rank Chr Start End Ref Alt Func.refgene Gene.refgene GeneDetail.refgene ExonicFunc.refgene AAChange.refgene Func.ensGene Gene.ensGene GeneDetail.ensGene ExonicFunc.ensGene AAChange.ensGene phastConsElements46way gwasCatalog cytoband tfbsConsSites wgEncodeRegTfbsClustered wgEncodeRegDnaseClustered evofold snp138 1000g2012feb_all 1000g2012apr_all 1000g2010nov_all 1000g2014sep_all 1000g2014sep_eur 1000g2014sep_eas 1000g2014sep_amr 1000g2014sep_afr 1000g2014sep_sas 1000g2012apr_eur 1000g2012apr_asn 1000g2012apr_amr 1000g2012apr_afr exac03 popfreq_max SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred RadialSVM_score RadialSVM_pred LR_score LR_pred VEST3_score CADD_raw CADD_phred GERP++_RS phyloP46way_placental phyloP100way_vertebrate SiPhy_29way_logOdds cadd caddgt10 avsift esp6500_ea esp6500_aa cosmic67 cg69 clinvar_20140929 rank.score 1 3 111795803 111795803 G T exonic TMPRSS7 NA nonsynonymous SNV TMPRSS7:NM_001042575:exon14:c.G1658T:p.R553I exonic ENSG00000176040 NA nonsynonymous SNV ENSG00000176040:ENST00000419127:exon14:c.G1658T:p.R553I,ENSG00000176040:ENST00000452346:exon16:c.G2036T:p.R679I Score=525;Name=lod=181 NA 3q13.2 Score=844;Name=V$FOXJ2_02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.235 M -2.48 D 0.750 D 0.819 D 0.884 5.143 32 6.11 2.906 8.810 17.651 5.142991 5.142991 0 NA NA NA NA NA 22.3333334 1 14 75472653 75472653 A G exonic EIF2B2 NA nonsynonymous SNV EIF2B2:NM_014239:exon5:c.A682G:p.R228G exonic ENSG00000119718 NA nonsynonymous SNV ENSG00000119718:ENST00000554748:exon1:c.A46G:p.R16G,ENSG00000119718:ENST00000266126:exon5:c.A682G:p.R228G Score=626;Name=lod=466 NA 14q24.3 Score=827;Name=V$FOXO3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008236 NA 0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.08 M -3.96 D 1.064 D 0.940 D 0.955 3.76 19.09 4.36 1.065 2.543 12.131 3.760111 3.760111 0 NA NA NA NA NA 22.3333252 1 1 205744020 205744020 G A exonic RAB7L1 NA nonsynonymous SNV RAB7L1:NM_001135663:exon1:c.C65T:p.S22L,RAB7L1:NM_001135662:exon2:c.C65T:p.S22L,RAB7L1:NM_003929:exon2:c.C65T:p.S22L exonic ENSG00000117280 NA nonsynonymous SNV ENSG00000117280:ENST00000414729:exon1:c.C65T:p.S22L,ENSG00000117280:ENST00000446390:exon1:c.C65T:p.S22L,ENSG00000117280:ENST00000235932:exon2:c.C65T:p.S22L,ENSG00000117280:ENST00000367139:exon2:c.C65T:p.S22L,ENSG00000117280:ENST00000528078:exon2:c.C65T:p.S22L Score=472;Name=lod=111 NA 1q32.1 NA Name=ZBTB7A_(SC-34508) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000663 NA 0.03 D 0.999 D 0.96 D 0.000 D 1.000 D 4.085 H -1.71 D 0.898 D 0.825 D 0.885 5.579 35 5.71 2.692 5.399 17.613 5.5793 5.5793 0 NA NA NA NA NA 22.3332671 2 12 121416797 121416797 G A exonic HNF1A NA nonsynonymous SNV HNF1A:NM_000545:exon1:c.G226A:p.D76N exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000257555:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000400024:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000402929:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000538646:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000540108:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000541395:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000541924:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000544413:exon1:c.G226A:p.D76N Score=456;Name=lod=95 NA 12q24.31 Score=950;Name=V$GATA1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03 D 0.999 D 0.994 D 0.000 D 1.000 D 1.7 L -4.98 D 1.099 D 0.947 D 0.163 4.842 27.6 4.34 1.954 6.435 15.836 4.84233 4.84233 0.01 NA NA NA NA NA 21.3333334 2 19 2415775 2415775 C A exonic TMPRSS9 NA nonsynonymous SNV TMPRSS9:NM_182973:exon10:c.C1579A:p.H527N exonic ENSG00000178297 NA nonsynonymous SNV ENSG00000178297:ENST00000332578:exon10:c.C1579A:p.H527N Score=343;Name=lod=33 NA 19p13.3 NA Name=CCNT2,Pol2(phosphoS2) Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004201 NA 0 D 0.993 D 0.936 D 0.000 D 1.000 D 3.42 M 0.12 T 0.164 D 0.457 T 0.486 3.381 17.4 3.8 1.976 5.665 14.415 3.38052 3.38052 0 NA NA NA NA NA 21.3332914 2 16 72050942 72050942 G A exonic DHODH NA nonsynonymous SNV DHODH:NM_001361:exon4:c.G454A:p.G152R exonic ENSG00000102967 NA nonsynonymous SNV ENSG00000102967:ENST00000219240:exon4:c.G454A:p.G152R,ENSG00000102967:ENST00000572887:exon4:c.G454A:p.G152R,ENSG00000102967:ENST00000576145:exon4:c.G370A:p.G124R Score=505;Name=lod=150 NA 16q22.2 NA NA NA NA rs267606766 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009937 0.0001 0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.64 H -4.22 D 1.059 D 0.976 D 0.989 1.93 12.41 5.82 2.757 9.135 19.089 1.929849 1.929849 0 0.00012 0 NA NA CLINSIG=pathogenic;CLNDBN=Miller_syndrome;CLNREVSTAT=single;CLNACC=RCV000018294.26;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0265257:263750:ORPHA246:66038001 21.333114 2 13 110855918 110855918 C G exonic COL4A1 NA nonsynonymous SNV COL4A1:NM_001845:exon18:c.G994C:p.G332R exonic ENSG00000187498 NA nonsynonymous SNV ENSG00000187498:ENST00000375820:exon18:c.G994C:p.G332R,ENSG00000187498:ENST00000543140:exon18:c.G994C:p.G332R Score=410;Name=lod=62 NA 13q34 NA Name=ZNF263 NA NA rs150182714 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00004942 0.0013 0.04 D 1.0 D 1.0 D 0.000 D 1.000 D 3.515 H -4.63 D 1.032 D 0.985 D 0.991 2.269 13.54 4.79 2.376 5.196 17.816 2.269008 2.269008 0.09 0.000233 0 NA NA NA 21.332051 2 11 77553595 77553595 G C exonic AAMDC NA nonsynonymous SNV AAMDC:NM_024684:exon2:c.G53C:p.G18A exonic ENSG00000087884 NA nonsynonymous SNV ENSG00000087884:ENST00000393427:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000525034:exon2:c.G110C:p.G37A,ENSG00000087884:ENST00000526164:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000532481:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000533193:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000304716:exon3:c.G53C:p.G18A,ENSG00000087884:ENST00000525409:exon3:c.G53C:p.G18A,ENSG00000087884:ENST00000526415:exon3:c.G53C:p.G18A,ENSG00000087884:ENST00000527134:exon3:c.G53C:p.G18A Score=633;Name=lod=500 NA 11q14.1 NA Name=c-Fos,c-Jun Name=47 NA rs138381967 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 0.04 D 0.999 D 0.912 D 0.000 D 1.000 D 2.005 M 0.7 T 0.109 D 0.558 D 0.695 4.276 22.3 4.67 2.941 6.477 14.855 4.276383 4.276383 0.04 0.000466 0.000227 NA NA NA 21.3316674 3 7 47331594 47331594 G A exonic TNS3 NA nonsynonymous SNV TNS3:NM_022748:exon27:c.C3887T:p.T1296M exonic ENSG00000136205 NA nonsynonymous SNV ENSG00000136205:ENST00000355730:exon24:c.C3167T:p.T1056M,ENSG00000136205:ENST00000311160:exon27:c.C3887T:p.T1296M,ENSG00000136205:ENST00000398879:exon27:c.C3887T:p.T1296M Score=243;Name=lod=13 NA 7p12.3 Score=728;Name=V$PAX4_04 Name=Pol2 Name=124 NA rs41280696 0.0023 0.0023 0.001 0.00179712 0.006 NA 0.0043 NA NA 0.004 NA 0.01 NA 0.0046 0.01 0.02 D 1.0 D 0.964 D 0.020 N 1.000 D 1.795 L -3.05 D 0.782 D 0.844 D 0.364 3.88 19.72 5.86 2.775 6.828 17.680 3.880412 3.880412 0.01 0.008402 0.00161 NA NA NA 21.3143314 4 19 17396344 17396344 G A exonic ANKLE1 NA nonsynonymous SNV ANKLE1:NM_152363:exon7:c.G1481A:p.R494Q exonic ENSG00000160117 NA nonsynonymous SNV ENSG00000160117:ENST00000394458:exon7:c.G1481A:p.R494Q,ENSG00000160117:ENST00000404085:exon7:c.G1469A:p.R490Q,ENSG00000160117:ENST00000594072:exon7:c.G1370A:p.R457Q,ENSG00000160117:ENST00000598347:exon7:c.G1403A:p.R468Q Score=548;Name=lod=225 NA 19p13.11 Score=874;Name=V$TAL1ALPHAE47_01 NA NA NA rs77683348 0.01 0.01 0.012 0.0101837 0.0199 0.006 0.013 0.003 0.0123 0.02 0.01 0.01 0.0041 0.0175 0.027 0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.045 M -3.52 D 0.550 D 0.801 D 0.278 4.286 22.4 4.35 2.252 8.502 14.417 4.285566 4.285566 0 0.026977 0.004085 NA NA NA 21.2689564 5 9 140777306 140777306 C G exonic CACNA1B NA nonsynonymous SNV CACNA1B:NM_000718:exon3:c.C501G:p.N167K,CACNA1B:NM_001243812:exon3:c.C501G:p.N167K exonic ENSG00000148408 NA nonsynonymous SNV ENSG00000148408:ENST00000277551:exon3:c.C501G:p.N167K,ENSG00000148408:ENST00000371355:exon3:c.C501G:p.N167K,ENSG00000148408:ENST00000371357:exon3:c.C501G:p.N167K,ENSG00000148408:ENST00000371363:exon3:c.C501G:p.N167K,ENSG00000148408:ENST00000371372:exon3:c.C501G:p.N167K Score=572;Name=lod=281 NA 9q34.3 NA Name=SUZ12,NRSF Name=9 NA rs4422842 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.49 0.02 D 1.0 D 0.999 D 0.000 D 1.000 D 4.925 H -5.66 D 1.009 D 0.987 D 0.542 1.491 10.93 -4.66 -0.938 -1.175 13.215 1.490893 1.490893 0.03 NA NA NA 0.486 NA 20.8334334 6 12 7280850 7280850 C T exonic RBP5 NA nonsynonymous SNV RBP5:NM_031491:exon2:c.G238A:p.G80R exonic ENSG00000139194 NA nonsynonymous SNV ENSG00000139194:ENST00000266560:exon2:c.G238A:p.G80R,ENSG00000139194:ENST00000542370:exon2:c.G238A:p.G80R Score=391;Name=lod=52 NA 12p13.31 NA Name=GABP,TAF1,Pol2 Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 0.999 D 0.981 D 0.000 D 1.000 D 2.29 M 1.49 T -0.663 T 0.190 T 0.307 2.962 15.87 3.55 2.270 3.664 16.422 2.961973 2.961973 0.01 NA NA NA NA NA 20.3333334 6 20 44579206 44579206 C T exonic ZNF335 NA nonsynonymous SNV ZNF335:NM_022095:exon21:c.G3218A:p.R1073Q exonic ENSG00000198026 NA nonsynonymous SNV ENSG00000198026:ENST00000426788:exon18:c.G2753A:p.R918Q,ENSG00000198026:ENST00000322927:exon21:c.G3218A:p.R1073Q Score=644;Name=lod=551 NA 20q13.12 NA Name=Pol2 Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008252 NA 0.01 D 1.0 D 0.998 D 0.000 D 1.000 D 2.475 M 2.31 T -0.902 T 0.137 T 0.803 4.953 28.8 4.82 2.681 7.239 17.438 4.952853 4.952853 0 NA NA NA NA NA 20.3333251 6 6 35259091 35259091 G T exonic ZNF76 NA nonsynonymous SNV ZNF76:NM_003427:exon8:c.G662T:p.G221V exonic ENSG00000065029 NA nonsynonymous SNV ENSG00000065029:ENST00000440666:exon7:c.G584T:p.G195V,ENSG00000065029:ENST00000339411:exon8:c.G662T:p.G221V,ENSG00000065029:ENST00000373953:exon8:c.G662T:p.G221V,ENSG00000065029:ENST00000469195:exon8:c.G662T:p.G221V Score=637;Name=lod=517 NA 6p21.31 Score=878;Name=V$AREB6_01 NA Name=5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000286 NA 0 D 1.0 D 0.992 D 0.001 D 1.000 D 2.51 M 1.9 T -0.866 T 0.151 T 0.751 5.209 33 5.11 2.816 9.601 18.069 5.208544 5.208544 0 NA NA NA NA NA 20.3333048 6 2 204053267 204053267 G C exonic NBEAL1 NA nonsynonymous SNV NBEAL1:NM_001114132:exon44:c.G6691C:p.A2231P exonic ENSG00000144426 NA nonsynonymous SNV ENSG00000144426:ENST00000414576:exon7:c.G736C:p.A246P,ENSG00000144426:ENST00000449802:exon44:c.G6691C:p.A2231P Score=592;Name=lod=338 NA 2q33.2 Score=932;Name=V$LMO2COM_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000058 NA 0.16 T 0.997 D 0.95 D 0.000 D 1.000 D 2.08 M -1.44 T 0.198 D 0.649 D 0.578 5.15 32 5.85 2.773 9.751 19.761 5.150183 5.150183 0.04 NA NA NA NA NA 20.3332754 6 6 38256069 38256069 G A exonic BTBD9 NA nonsynonymous SNV BTBD9:NM_152733:exon7:c.C1229T:p.P410L,BTBD9:NM_001099272:exon8:c.C1433T:p.P478L,BTBD9:NM_001172418:exon8:c.C1343T:p.P448L,BTBD9:NM_052893:exon9:c.C1433T:p.P478L exonic ENSG00000183826 NA nonsynonymous SNV ENSG00000183826:ENST00000408958:exon6:c.C1229T:p.P410L,ENSG00000183826:ENST00000314100:exon7:c.C1229T:p.P410L,ENSG00000183826:ENST00000403056:exon7:c.C1433T:p.P478L,ENSG00000183826:ENST00000419706:exon8:c.C1343T:p.P448L,ENSG00000183826:ENST00000481247:exon8:c.C1433T:p.P478L Score=505;Name=lod=150 NA 6p21.2 NA NA NA NA rs375379024 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0001 0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.68 M -4.91 D 1.105 D 0.960 D 0.636 3.745 19.01 5.31 1.636 9.323 15.660 3.744885 3.744885 0 0.000118 0 NA NA NA 20.3331154 6 7 33061694 33061694 T G exonic NT5C3A NA nonsynonymous SNV NT5C3A:NM_001002010:exon4:c.A340C:p.K114Q,NT5C3A:NM_001002009:exon5:c.A223C:p.K75Q,NT5C3A:NM_016489:exon5:c.A223C:p.K75Q,NT5C3A:NM_001166118:exon6:c.A187C:p.K63Q exonic ENSG00000122643 NA nonsynonymous SNV ENSG00000122643:ENST00000242210:exon4:c.A340C:p.K114Q,ENSG00000122643:ENST00000405342:exon4:c.A223C:p.K75Q,ENSG00000122643:ENST00000409787:exon4:c.A223C:p.K75Q,ENSG00000122643:ENST00000396152:exon5:c.A223C:p.K75Q,ENSG00000122643:ENST00000381626:exon6:c.A187C:p.K63Q,ENSG00000122643:ENST00000409467:exon6:c.A187C:p.K63Q Score=575;Name=lod=289 NA 7p14.3 Score=798;Name=V$COMP1_01 NA NA NA rs144452782 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.001 0.0019 0.16 T 0.999 D 0.989 D 0.000 D 1.000 D 2.14 M -1.9 D 0.474 D 0.725 D 0.225 4.197 21.8 5.4 2.058 4.731 15.418 4.196983 4.196983 0.09 0.001862 0.000683 NA NA NA 20.3274714 7 1 32674927 32674927 T C exonic DCDC2B NA nonsynonymous SNV DCDC2B:NM_001099434:exon1:c.T233C:p.V78A exonic ENSG00000222046 NA nonsynonymous SNV ENSG00000222046:ENST00000409358:exon1:c.T233C:p.V78A Score=489;Name=lod=130 NA 1p35.1 NA Name=Pol2 NA NA rs144804850 0.0032 0.0032 0.01 0.00139776 0.005 NA 0.0029 NA NA 0.01 NA 0.0028 NA 0.0053 0.01 0 D 1.0 D 1.0 D . . 1.000 D 3.045 M -4.22 D 0.919 D 0.936 D 0.861 4.771 26.8 5.16 2.078 7.399 14.958 4.770833 4.770833 0 0.008095 0.001212 NA NA NA 20.3149384 8 12 30878976 30878976 G C exonic CAPRIN2 NA nonsynonymous SNV CAPRIN2:NM_001002259:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001206856:exon9:c.C1829G:p.P610R,CAPRIN2:NM_023925:exon9:c.C1829G:p.P610R,CAPRIN2:NM_032156:exon9:c.C1829G:p.P610R exonic ENSG00000110888 NA nonsynonymous SNV ENSG00000110888:ENST00000433722:exon6:c.C1067G:p.P356R,ENSG00000110888:ENST00000308433:exon8:c.C830G:p.P277R,ENSG00000110888:ENST00000251071:exon9:c.C1829G:p.P610R,ENSG00000110888:ENST00000298892:exon9:c.C1829G:p.P610R,ENSG00000110888:ENST00000395805:exon9:c.C1829G:p.P610R,ENSG00000110888:ENST00000417045:exon9:c.C1829G:p.P610R,ENSG00000110888:ENST00000537108:exon10:c.C1586G:p.P529R Score=432;Name=lod=76 NA 12p11.21 NA Name=p300,CEBPB,p300_(N-15),eGFP-FOS,STAT3,c-Jun,GATA-2,c-Fos,JunD Name=113 NA rs73079976 0.01 0.01 0.003 0.0111821 0.0109 NA 0.0173 0.0008 0.0327 0.01 NA 0.01 NA 0.0092 0.01 0.01 D 1.0 D 1.0 D 0.001 D 0.980 D 1.65 L 2.21 T 0.305 D 0.569 D 0.82 3.816 19.38 4.72 1.348 4.493 15.950 3.816391 3.816391 0 0.008721 0.001135 NA 0.043 NA 20.3045124 9 2 170129547 170129547 C T exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon15:c.G2006A:p.G669D exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000443831:exon14:c.G1799A:p.G600D,ENSG00000081479:ENST00000263816:exon15:c.G2006A:p.G669D Score=602;Name=lod=373 NA 2q31.1 NA NA NA NA rs34291900 0.02 0.02 0.013 0.014976 0.0368 NA 0.013 0.0015 0.0276 0.04 NA 0.02 0.002 0.0285 0.04 0.07 T 1.0 D 1.0 D 0.000 D 1.000 D 2.58 M -2.33 D 0.205 D 0.520 D 0.465 4.937 28.6 5.38 2.681 7.729 19.496 4.937022 4.937022 0 0.035233 0.005674 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117514.2;CLNDSDB=.;CLNDSDBID=. 20.2328004 9 1 104117921 104117921 G A exonic AMY2B NA nonsynonymous SNV AMY2B:NM_020978:exon8:c.G955A:p.G319R exonic ENSG00000240038 NA nonsynonymous SNV ENSG00000240038:ENST00000477657:exon7:c.G955A:p.G319R,ENSG00000240038:ENST00000361355:exon8:c.G955A:p.G319R Score=637;Name=lod=516 NA 1p21.1 Score=767;Name=V$HTF_01 NA NA NA rs140978983 0.02 0.02 0.008 0.0173722 0.0457 NA 0.0389 0.0023 0.0112 0.04 NA 0.04 0.002 0.023 0.04 0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.655 H . . 0.440 D 0.592 D 0.521 4.701 26.1 5.26 2.462 6.711 18.939 4.701339 4.701339 0 0.033388 0.006355 NA 0.022 NA 20.2312454 10 6 111913262 111913262 C T exonic TRAF3IP2 NA nonsynonymous SNV TRAF3IP2:NM_001164281:exon2:c.G28A:p.D10N,TRAF3IP2:NM_147686:exon2:c.G28A:p.D10N exonic ENSG00000056972 NA nonsynonymous SNV ENSG00000056972:ENST00000359831:exon2:c.G28A:p.D10N,ENSG00000056972:ENST00000368761:exon2:c.G28A:p.D10N,ENSG00000056972:ENST00000340026:exon3:c.G55A:p.D19N Score=493;Name=lod=135 Name=Psoriatic arthritis,Psoriasis 6q21 Score=682;Name=V$P53_01 NA Name=70 NA rs33980500 0.08 0.08 0.075 0.0836661 0.0855 0.004 0.1196 0.143 0.0583 0.09 0.01 0.13 0.12 0.0825 0.14 0 D 1.0 D 1.0 D 0.000 D 0.000 P 2.045 M 0.66 T -0.609 T 0.245 T 0.14 4.785 26.9 5.5 2.588 5.038 17.582 4.785261 4.785261 0 0.077442 0.14049 NA 0.058 CLINSIG=other;CLNDBN=Psoriasis_susceptibility_13;CLNREVSTAT=single;CLNACC=RCV000023605.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3279754:614070 20.0878914 11 17 21319208 21319208 C T exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.C554T:p.A185V,KCNJ12:NM_021012:exon3:c.C554T:p.A185V exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.C554T:p.A185V,ENSG00000184185:ENST00000583088:exon3:c.C554T:p.A185V Score=523;Name=lod=178 NA 17p11.2 Score=798;Name=V$YY1_02 NA NA NA rs73979896 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4643 0.11 0.02 D 0.984 D 0.435 B 0.000 D 1.000 D 2.34 M -3.76 D 0.890 D 0.851 D 0.905 4.568 24.8 5.32 2.496 7.680 18.998 4.568141 4.568141 0.04 NA NA NA 0.101 NA 19.8690334 12 17 21319087 21319087 G A exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.G433A:p.G145S,KCNJ12:NM_021012:exon3:c.G433A:p.G145S exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G433A:p.G145S,ENSG00000184185:ENST00000583088:exon3:c.G433A:p.G145S Score=598;Name=lod=358 NA 17p11.2 NA NA NA NA rs75029097 NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.4905 0.087 0.01 D 1.0 D 1.0 D 0.000 D 1.000 D 4.135 H -7.9 D 0.899 D 0.997 D 0.982 5.047 29.9 5.23 2.448 9.690 18.791 5.047022 5.047022 0.01 NA NA NA 0.087 NA 19.8428334 12 17 21319943 21319943 A G exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.A1289G:p.E430G,KCNJ12:NM_021012:exon3:c.A1289G:p.E430G exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.A1289G:p.E430G,ENSG00000184185:ENST00000583088:exon3:c.A1289G:p.E430G Score=500;Name=lod=144 NA 17p11.2 Score=860;Name=V$P300_01 NA NA NA rs5021699 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA 0.4972 0.3 0.04 D 1.0 D 0.999 D 0.023 N 1.000 D 2.175 M -2.63 D 0.810 D 0.829 D 0.594 3.516 17.96 5.41 2.066 9.091 15.454 3.515652 3.515652 0.06 NA NA NA 0.304 NA 19.8361334 13 1 160011512 160011512 G A exonic KCNJ10 NA nonsynonymous SNV KCNJ10:NM_002241:exon2:c.C811T:p.R271C exonic ENSG00000177807 NA nonsynonymous SNV ENSG00000177807:ENST00000368089:exon2:c.C811T:p.R271C Score=651;Name=lod=591 NA 1q23.2 NA NA NA NA rs1130183 0.02 0.02 0.016 0.0147764 0.0477 NA 0.0259 NA 0.0082 0.05 NA 0.03 NA 0.0457 0.066 0.02 D 0.999 D 0.862 P 0.000 D 1.000 D 1.585 L -2.94 D 0.651 D 0.775 D 0.246 3.549 18.1 5.44 2.837 2.919 16.811 3.54874 3.54874 0.05 0.065465 0.012937 NA 0.087 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117320.2|RCV000126411.1;CLNDSDB=.|.;CLNDSDBID=.|. 19.6744684 14 19 40421270 40421270 C T exonic FCGBP NA nonsynonymous SNV FCGBP:NM_003890:exon5:c.G2651A:p.G884D exonic ENSG00000090920 NA nonsynonymous SNV ENSG00000090920:ENST00000221347:exon5:c.G2651A:p.G884D Score=449;Name=lod=89 NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009676 NA 0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.91 M -0.15 T 0.129 D 0.496 T 0.699 5.266 33 4.94 2.449 7.747 17.284 5.265948 5.265948 NA NA NA NA NA NA 19.3333237 14 9 35733406 35733406 T C exonic CREB3 NA nonsynonymous SNV CREB3:NM_006368:exon4:c.T359C:p.L120P exonic ENSG00000107175 NA nonsynonymous SNV ENSG00000107175:ENST00000353704:exon4:c.T359C:p.L120P NA NA 9p13.3 NA Name=CTCF_(C-20),Sin3Ak-20,CTCF,PU.1,Pol2 Name=130 NA rs138981526 0 0 NA 0 NA NA NA NA NA NA NA NA NA 0.0004 0.0002 0 D 1.0 D 0.998 D 0.001 N 0.950 D 2.295 M -1.86 D 0.443 D 0.700 D 0.532 3.212 16.76 3.62 0.768 3.688 8.684 3.212464 3.212464 0 0.000233 0 NA NA NA 19.3327004 14 1 37947235 37947235 A T exonic ZC3H12A NA nonsynonymous SNV ZC3H12A:NM_025079:exon4:c.A617T:p.K206M exonic ENSG00000163874 NA nonsynonymous SNV ENSG00000163874:ENST00000373087:exon4:c.A617T:p.K206M Score=534;Name=lod=198 NA 1p34.3 NA Name=Egr-1 Name=29 NA rs201388317 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00007415 0.0001 0.03 D 1.0 D 0.994 D 0.000 D 1.000 D 1.935 M 0.89 T -0.630 T 0.240 T 0.665 4.957 28.9 5.42 2.054 5.267 15.466 4.957246 4.957246 0 0.000116 0 NA NA NA 19.3321433 15 11 117979606 117979606 G C exonic TMPRSS4 NA nonsynonymous SNV TMPRSS4:NM_001173552:exon6:c.G458C:p.C153S,TMPRSS4:NM_001083947:exon7:c.G563C:p.C188S,TMPRSS4:NM_001173551:exon7:c.G572C:p.C191S,TMPRSS4:NM_019894:exon7:c.G578C:p.C193S exonic ENSG00000137648 NA nonsynonymous SNV ENSG00000137648:ENST00000522151:exon6:c.G419C:p.C140S,ENSG00000137648:ENST00000523251:exon6:c.G458C:p.C153S,ENSG00000137648:ENST00000437212:exon7:c.G578C:p.C193S,ENSG00000137648:ENST00000519236:exon7:c.G572C:p.C191S,ENSG00000137648:ENST00000522307:exon7:c.G137C:p.C46S,ENSG00000137648:ENST00000522824:exon7:c.G563C:p.C188S,ENSG00000137648:ENST00000534111:exon7:c.G572C:p.C191S Score=391;Name=lod=52 NA 11q23.3 NA NA NA NA rs45441097 0.0032 0.0032 0.001 0.00259585 0.006 NA 0.0086 NA 0.001 0.01 NA 0.01 NA 0.0042 0.01 0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.97 M 0.26 T 0.898 D 0.961 D 0.893 4.036 20.7 4.93 2.564 5.377 15.172 4.036391 4.036391 0 0.005121 0.000909 NA 0.051 NA 19.3180124 15 13 45589616 45589616 C G exonic KIAA1704 NA nonsynonymous SNV KIAA1704:NM_018559:exon6:c.C590G:p.P197R exonic ENSG00000133114 NA nonsynonymous SNV ENSG00000133114:ENST00000357537:exon5:c.C80G:p.P27R,ENSG00000133114:ENST00000361121:exon6:c.C590G:p.P197R,ENSG00000133114:ENST00000379151:exon6:c.C590G:p.P197R,ENSG00000133114:ENST00000497558:exon6:c.C590G:p.P197R Score=599;Name=lod=361 NA 13q14.12 NA Name=c-Fos,GATA-2 Name=27 NA rs151309735 0.0018 0.0018 0.002 0.00199681 0.006 NA NA NA 0.0041 0.004 NA 0.0028 NA 0.004 0.0077 0.05 D 0.999 D 0.984 D 0.000 D 1.000 D 2.42 M . . -0.205 T 0.374 T 0.592 4.548 24.6 5.51 2.746 7.192 18.782 4.548355 4.548355 0.01 0.007674 0.001589 NA NA NA 19.3156594 16 6 33281504 33281504 C A exonic TAPBP NA nonsynonymous SNV TAPBP:NM_003190:exon2:c.G175T:p.D59Y,TAPBP:NM_172208:exon2:c.G175T:p.D59Y,TAPBP:NM_172209:exon2:c.G175T:p.D59Y exonic ENSG00000231925 NA nonsynonymous SNV ENSG00000231925:ENST00000426633:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000434618:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000456592:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000475304:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000489157:exon2:c.G175T:p.D59Y Score=321;Name=lod=27 NA 6p21.32 NA Name=EBF1_(C-8),TBP,BAF155,CEBPB,Pol2,EBF Name=111 NA rs45583737 0.0014 0.0014 0.003 0.00339457 0.0089 NA 0.0029 0.0008 0.0051 0.004 NA NA NA 0.0051 0.0076 0 D 1.0 D 0.996 D 0.000 D 0.996 D 2.28 M 1.14 T -0.631 T 0.222 T 0.777 1.795 11.96 4.15 2.300 1.961 12.127 1.795345 1.795345 0 0.007572 0.001365 NA NA NA 19.3117614 16 4 96762158 96762158 G C exonic PDHA2 NA nonsynonymous SNV PDHA2:NM_005390:exon1:c.G857C:p.R286P exonic ENSG00000163114 NA nonsynonymous SNV ENSG00000163114:ENST00000295266:exon1:c.G857C:p.R286P Score=488;Name=lod=128 NA 4q22.3 NA NA NA NA rs147966234 0.0037 0.0037 0.002 0.00479233 0.007 NA 0.0043 NA 0.0143 0.01 NA 0.01 NA 0.0091 0.011 0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.685 H -6.13 D 0.850 D 0.988 D 0.493 3.384 17.42 3.17 0.785 3.345 8.906 3.384493 3.384493 0 0.010581 0.000681 NA NA NA 19.3066524 17 6 7581032 7581032 C T exonic DSP NA nonsynonymous SNV DSP:NM_004415:exon23:c.C4609T:p.R1537C exonic ENSG00000096696 NA nonsynonymous SNV ENSG00000096696:ENST00000379802:exon23:c.C4609T:p.R1537C Score=304;Name=lod=23 NA 6p24.3 NA Name=FOXA1_(C-20),FOXA1_(SC-101058),FOXA2_(SC-6554) Name=9 NA rs28763967 0.01 0.01 0.002 0.00359425 0.0159 NA 0.0014 0.0008 NA 0.01 NA 0.01 0.002 0.0091 0.014 0.04 D 1.0 D 0.965 D 0.000 D 1.000 D 1.1 L -0.87 T -0.245 T 0.393 T 0.328 3.224 16.8 5.85 2.772 2.051 15.812 3.224244 3.224244 0.01 0.014302 0.002951 NA 0.014 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038052.1;CLNDSDB=.;CLNDSDBID=. 19.2940314 17 22 18566288 18566288 C G exonic PEX26 NA nonsynonymous SNV PEX26:NM_001127649:exon3:c.C457G:p.L153V,PEX26:NM_001199319:exon4:c.C457G:p.L153V,PEX26:NM_017929:exon4:c.C457G:p.L153V exonic ENSG00000215193 NA nonsynonymous SNV ENSG00000215193:ENST00000399744:exon3:c.C457G:p.L153V,ENSG00000215193:ENST00000428061:exon3:c.C457G:p.L153V,ENSG00000215193:ENST00000329627:exon4:c.C457G:p.L153V Score=358;Name=lod=38 NA 22q11.21 NA NA NA NA rs12484657 0.01 0.01 0.003 0.00439297 0.0119 NA 0.0144 NA NA 0.01 NA 0.01 NA 0.01 0.018 0.05 D 1.0 D 0.998 D 0.391 U 0.652 N 2.34 M -3.2 D 0.569 D 0.801 D 0.423 3.523 17.99 5.47 2.724 2.405 16.856 3.522788 3.522788 0.03 0.017558 0.003631 NA 0.072 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081925.1;CLNDSDB=.;CLNDSDBID=. 19.2938754 18 12 6458350 6458350 A G exonic SCNN1A NA nonsynonymous SNV SCNN1A:NM_001159576:exon9:c.T1654C:p.W552R,SCNN1A:NM_001038:exon10:c.T1477C:p.W493R,SCNN1A:NM_001159575:exon10:c.T1546C:p.W516R exonic ENSG00000111319 NA nonsynonymous SNV ENSG00000111319:ENST00000540037:exon8:c.T577C:p.W193R,ENSG00000111319:ENST00000360168:exon9:c.T1654C:p.W552R,ENSG00000111319:ENST00000228916:exon10:c.T1477C:p.W493R,ENSG00000111319:ENST00000358945:exon10:c.T1543C:p.W515R,ENSG00000111319:ENST00000543768:exon10:c.T1546C:p.W516R Score=358;Name=lod=38 NA 12p13.31 NA NA NA NA rs5742912 0.01 0.01 0.004 0.0133786 0.0249 NA 0.0259 0.003 0.0204 0.02 NA 0.03 0.002 0.0182 0.03 0 D 1.0 D 1.0 D 0.000 D 1.000 A 3.305 M -0.15 T 0.047 D 0.266 T 0.939 3.934 20.1 5.19 1.984 5.594 11.522 3.933539 3.933539 0 0.023721 0.00522 NA 0.007 CLINSIG=pathogenic;CLNDBN=Bronchiectasis_with_or_without_elevated_sweat_chloride_2;CLNREVSTAT=single;CLNACC=RCV000009851.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2751666:613021 19.2665124 19 1 43223489 43223489 C T exonic LEPRE1 NA nonsynonymous SNV LEPRE1:NM_001146289:exon5:c.G1045A:p.G349R,LEPRE1:NM_001243246:exon5:c.G1045A:p.G349R,LEPRE1:NM_022356:exon5:c.G1045A:p.G349R exonic ENSG00000117385 NA nonsynonymous SNV ENSG00000117385:ENST00000236040:exon5:c.G1045A:p.G349R,ENSG00000117385:ENST00000296388:exon5:c.G1045A:p.G349R,ENSG00000117385:ENST00000397054:exon5:c.G1045A:p.G349R Score=437;Name=lod=80 NA 1p34.2 NA NA Name=7 NA rs6700677 0.04 0.04 0.046 0.0549121 0.0388 0.001 0.0389 0.112 0.0613 0.04 NA 0.05 0.1 0.0448 0.11 0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.89 M -1.66 D -0.536 T 0.067 T 0.492 4.366 23 5.84 2.769 7.487 17.643 4.365718 4.365718 0 0.043488 0.108488 ID=COSM1342736,COSM1342737;OCCURENCE=2(large_intestine) 0.058 NA 19.2062454 20 22 35478529 35478529 G A exonic ISX NA nonsynonymous SNV ISX:NM_001008494:exon2:c.G248A:p.R83Q exonic ENSG00000175329 NA nonsynonymous SNV ENSG00000175329:ENST00000308700:exon2:c.G248A:p.R83Q,ENSG00000175329:ENST00000404699:exon3:c.G248A:p.R83Q Score=366;Name=lod=41 NA 22q12.3 NA NA NA NA rs8140287 0.03 0.03 0.022 0.0307508 0.0557 0.003 0.0317 0.0023 0.0716 0.06 0.0017 0.02 NA 0.043 0.06 0.16 T 1.0 D 0.999 D 0.000 D 1.000 D 3.47 M -4.29 D 0.107 D 0.743 D 0.374 4.916 28.4 4.94 2.545 8.758 15.683 4.916181 4.916181 0 0.053721 0.011575 NA 0.022 NA 19.1809124 20 5 89914925 89914925 T G exonic GPR98 NA nonsynonymous SNV GPR98:NM_032119:exon4:c.T380G:p.L127R exonic ENSG00000164199 NA nonsynonymous SNV ENSG00000164199:ENST00000405460:exon4:c.T380G:p.L127R Score=630;Name=lod=485 NA 5q14.3 Score=846;Name=V$IRF1_01 NA NA NA rs41311333 0.02 0.02 0.016 0.0163738 0.0497 NA 0.0346 NA 0.0082 0.05 NA 0.04 NA 0.0618 0.05 0 D 0.999 D 0.972 D 0.000 D 1.000 D 1.935 M 1.35 T -0.952 T 0.044 T 0.281 3.935 20.1 5.43 2.063 7.492 15.490 3.935363 3.935363 0 0.045868 0.006656 NA 0.022 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039577.1|RCV000125292.1;CLNDSDB=.|.;CLNDSDBID=.|. 19.1759654 21 17 45214605 45214605 T C exonic CDC27 NA nonsynonymous SNV CDC27:NM_001114091:exon14:c.A1844G:p.H615R,CDC27:NM_001256:exon14:c.A1826G:p.H609R exonic ENSG00000004897 NA nonsynonymous SNV ENSG00000004897:ENST00000446365:exon13:c.A1643G:p.H548R,ENSG00000004897:ENST00000066544:exon14:c.A1826G:p.H609R,ENSG00000004897:ENST00000527547:exon14:c.A1823G:p.H608R,ENSG00000004897:ENST00000531206:exon14:c.A1844G:p.H615R Score=658;Name=lod=631 NA 17q21.32 Score=721;Name=V$SRF_01 Name=STAT1,CTCF,TAF1,CTCFL_(SC-98982),ZBTB33,GABP,TAF7_(SQ-8),SUZ12,IRF3,ZNF274,EBF,ZZZ3,GCN5,YY1,c-Jun,c-Fos,GATA-2 Name=148 NA rs76926116 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4987 0.022 0 D 0.848 P 0.513 P 0.000 D 1.000 D 3.425 M 0.32 T -0.114 T 0.354 T 0.89 4.752 26.6 5.81 2.228 6.308 14.108 4.752269 4.752269 0 NA NA NA 0.029 NA 18.8346334 21 17 21319121 21319121 C T exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.C467T:p.P156L,KCNJ12:NM_021012:exon3:c.C467T:p.P156L exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.C467T:p.P156L,ENSG00000184185:ENST00000583088:exon3:c.C467T:p.P156L Score=455;Name=lod=94 NA 17p11.2 Score=894;Name=V$USF_Q6 NA NA NA rs1714864 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4997 0.5 0.01 D 1.0 D 1.0 D 0.000 D 1.000 D 2.795 M -3.43 D -1.369 T 0.000 T 0.942 4.638 25.4 5.32 2.496 7.680 18.998 4.637763 4.637763 0.01 NA NA NA 0.341 NA 18.8336334 21 4 82369284 82369284 T G exonic RASGEF1B NA nonsynonymous SNV RASGEF1B:NM_152545:exon5:c.A593C:p.D198A exonic ENSG00000138670 NA nonsynonymous SNV ENSG00000138670:ENST00000504863:exon2:c.A128C:p.D43A,ENSG00000138670:ENST00000335927:exon4:c.A467C:p.D156A,ENSG00000138670:ENST00000264400:exon5:c.A593C:p.D198A,ENSG00000138670:ENST00000509081:exon5:c.A590C:p.D197A Score=558;Name=lod=248 NA 4q21.21 NA Name=FOSL1_(SC-183) Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006589 NA 0.06 T 0.972 D 0.844 P 0.000 D 1.000 D 2.085 M 1.58 T -0.886 T 0.156 T 0.912 4.644 25.5 5.31 2.243 5.820 15.100 4.643658 4.643658 0.01 NA NA NA NA NA 18.8332675 21 3 154886383 154886383 A G exonic MME NA nonsynonymous SNV MME:NM_000902:exon19:c.A1883G:p.N628S,MME:NM_007287:exon19:c.A1883G:p.N628S,MME:NM_007288:exon19:c.A1883G:p.N628S,MME:NM_007289:exon19:c.A1883G:p.N628S exonic ENSG00000196549 NA nonsynonymous SNV ENSG00000196549:ENST00000360490:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000460393:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000462745:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000492661:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000493237:exon19:c.A1883G:p.N628S Score=496;Name=lod=138 NA 3q25.2 Score=862;Name=V$OCT1_07 NA NA NA rs181745819 0.0005 0.0005 NA 0.000399361 0.001 NA 0.0014 NA NA NA NA 0.0028 NA 0.00003301 0.0028 0.12 T 0.976 D 0.739 P 0.000 D 1.000 D 1 L -1.64 D 0.011 D 0.512 D 0.258 3.865 19.64 5.25 1.988 7.082 15.182 3.865446 3.865446 0.07 NA NA NA NA NA 18.8323004 21 11 18047154 18047154 C T exonic TPH1 NA nonsynonymous SNV TPH1:NM_004179:exon7:c.G898A:p.A300T exonic ENSG00000129167 NA nonsynonymous SNV ENSG00000129167:ENST00000250018:exon7:c.G898A:p.A300T,ENSG00000129167:ENST00000341556:exon7:c.G898A:p.A300T Score=659;Name=lod=635 NA 11p15.1 NA NA NA NA rs145855109 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0007 0.0007 0.02 D 0.808 P 0.298 B 0.000 D 1.000 D 3.28 M -6.41 D 1.111 D 0.981 D 0.979 4.904 28.3 5.71 2.692 7.773 19.834 4.904046 4.904046 0.03 0.000699 0 NA NA NA 18.8319344 21 18 19153835 19153835 C T exonic ESCO1 NA nonsynonymous SNV ESCO1:NM_052911:exon4:c.G970A:p.E324K exonic ENSG00000141446 NA nonsynonymous SNV ENSG00000141446:ENST00000269214:exon4:c.G970A:p.E324K,ENSG00000141446:ENST00000383276:exon4:c.G970A:p.E324K Score=586;Name=lod=322 NA 18q11.2 Score=824;Name=V$FOXO3_01 Name=MafK_(ab50322) NA NA rs148536942 0.0023 0.0023 0.001 0.00119808 0.003 NA 0.0029 0.0008 NA 0.0026 NA 0.01 0.002 0.0012 0.01 0.03 D 0.996 D 0.837 P 0.000 D 0.998 D 1.935 M 1.44 T -0.398 T 0.296 T 0.561 4.078 21 5.74 2.715 5.038 18.116 4.078169 4.078169 NA 0.001628 0.000227 NA NA NA 18.8275054 22 16 2287649 2287649 A C exonic DNASE1L2 NA nonsynonymous SNV DNASE1L2:NM_001374:exon5:c.A590C:p.D197A exonic ENSG00000167968 NA nonsynonymous SNV ENSG00000167968:ENST00000564065:exon4:c.A590C:p.D197A,ENSG00000167968:ENST00000569184:exon4:c.A581C:p.D194A,ENSG00000167968:ENST00000320700:exon5:c.A590C:p.D197A,ENSG00000167968:ENST00000382437:exon5:c.A527C:p.D176A,ENSG00000167968:ENST00000567494:exon5:c.A590C:p.D197A Score=403;Name=lod=58 NA 16p13.3 NA Name=Pol2 Name=10 NA rs62621282 0.0041 0.0041 NA 0.00259585 0.005 NA 0.0115 NA NA 0.01 NA 0.01 NA 0.0026 0.01 0.14 T 0.984 D 0.831 P 0.000 D 0.528 N 2.56 M -1.28 T 0.199 D 0.502 D 0.388 2.54 14.45 4.37 1.833 4.650 9.904 2.539914 2.539914 0.02 0.002908 0.000761 NA NA NA 18.8228254 23 21 33975515 33975515 C T exonic C21orf59 NA nonsynonymous SNV C21orf59:NM_021254:exon5:c.G622A:p.V208M exonic ENSG00000159079,ENSG00000265590 NA nonsynonymous SNV ENSG00000159079:ENST00000540881:exon4:c.G454A:p.V152M,ENSG00000159079:ENST00000290155:exon5:c.G622A:p.V208M,ENSG00000159079:ENST00000382549:exon5:c.G622A:p.V208M,ENSG00000159079:ENST00000440966:exon5:c.G622A:p.V208M,ENSG00000265590:ENST00000553001:exon5:c.G622A:p.V208M Score=554;Name=lod=239 NA 21q22.11 Score=959;Name=V$MZF1_01 NA NA NA rs61735781 0.0041 0.0041 0.007 0.00379393 0.0099 NA 0.0014 NA 0.0082 0.01 NA NA NA 0.0045 0.011 0.02 D 0.999 D 0.907 P 0.000 D 0.999 D 2.77 M . . 0.014 D 0.434 T 0.604 4.317 22.6 5.38 2.677 2.548 19.501 4.316671 4.316671 0.01 0.007209 0.001362 NA 0.065 NA 18.8117244 24 2 241808314 241808314 C T exonic AGXT NA nonsynonymous SNV AGXT:NM_000030:exon1:c.C32T:p.P11L exonic ENSG00000172482 NA nonsynonymous SNV ENSG00000172482:ENST00000307503:exon1:c.C32T:p.P11L Score=251;Name=lod=14 NA 2q37.3 NA Name=HEY1,HDAC2_(SC-6296) NA NA rs34116584 0.11 0.11 0.086 0.0808706 0.2048 NA 0.1311 0.0363 0.0613 0.21 NA 0.14 0.05 0.1545 0.21 0.02 D 1.0 D 1.0 D 0.000 D 0.000 P 2.43 M -2.36 D -1.138 T 0.003 T 0.523 2.737 15.11 4.42 2.014 6.302 11.635 2.736816 2.736816 0.06 0.203419 0.061164 NA 0.094 CLINSIG=other;CLNDBN=Primary_hyperoxaluria\x2c_type_I;CLNREVSTAT=mult;CLNACC=RCV000005995.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT;CLNDSDBID=NBK1283:C0268164:259900:ORPHA416:ORPHA93598:65520001 18.7706144 25 15 45695445 45695445 C G exonic SPATA5L1 NA nonsynonymous SNV SPATA5L1:NM_024063:exon1:c.C818G:p.S273C exonic ENSG00000171763 NA nonsynonymous SNV ENSG00000171763:ENST00000305560:exon1:c.C818G:p.S273C,ENSG00000171763:ENST00000531970:exon1:c.C818G:p.S273C,ENSG00000171763:ENST00000559860:exon1:c.C818G:p.S273C NA NA 15q21.1 NA Name=CCNT2,HA-E2F1,TAF1 Name=114 NA rs143453038 0.02 0.02 0.02 0.00998403 0.0298 NA 0.0202 0.0023 0.0031 0.03 NA 0.02 0.02 0.0487 0.03 0 D 0.974 D 0.812 P 0.015 N 1.000 N 2.09 M -3.22 D 0.109 D 0.662 D 0.106 3.999 20.5 4.9 2.536 7.247 16.826 3.999282 3.999282 0.01 0.020671 0.005012 NA 0.043 NA 18.7341624 25 1 78392446 78392446 G A exonic NEXN NA nonsynonymous SNV NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R exonic ENSG00000162614 NA nonsynonymous SNV ENSG00000162614:ENST00000330010:exon7:c.G541A:p.G181R,ENSG00000162614:ENST00000401035:exon7:c.G541A:p.G181R,ENSG00000162614:ENST00000440324:exon7:c.G691A:p.G231R,ENSG00000162614:ENST00000457030:exon7:c.G691A:p.G231R,ENSG00000162614:ENST00000334785:exon8:c.G733A:p.G245R Score=558;Name=lod=247 NA 1p31.1 Score=933;Name=V$STAT_01 Name=MEF2A,PU.1 Name=20 NA rs1166698 0.2 0.2 0.194 0.150759 0.2107 0.38 0.1167 0.0106 0.0665 0.2 0.41 0.14 0.01 0.1846 0.41 0.31 T 1.0 D 1.0 D 0.000 D 0.000 P 2.63 M -0.06 T -0.291 T 0.460 T 0.422 4.442 23.7 5.64 2.643 8.915 19.694 4.442499 4.442499 0.02 0.207311 0.046582 NA 0.152 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041182.1|RCV000127191.1;CLNDSDB=.|.;CLNDSDBID=.|. 18.7307224 26 7 66453476 66453476 A G exonic SBDS NA nonsynonymous SNV SBDS:NM_016038:exon5:c.T635C:p.I212T exonic ENSG00000126524 NA nonsynonymous SNV ENSG00000126524:ENST00000246868:exon5:c.T635C:p.I212T Score=363;Name=lod=40 NA 7q11.21 NA NA NA NA rs79344818 0.02 0.02 0.018 0.0169728 0.0457 NA 0.036 0.0045 0.0082 0.04 NA 0.04 0.002 0.0248 0.04 0.01 D 0.154 B 0.599 P 0.000 D 1.000 D 2.805 M -4.1 D 0.405 D 0.718 D 0.281 3.525 18 2.65 0.394 6.487 5.317 3.524518 3.524518 0.05 0.038837 0.006582 NA 0.014 CLINSIG=non-pathogenic;CLNDBN=Shwachman_syndrome;CLNREVSTAT=single;CLNACC=RCV000020733.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1756:C0272170:260400:ORPHA811:89454001 18.7239964 27 19 46181392 46181392 G C exonic GIPR NA nonsynonymous SNV GIPR:NM_000164:exon12:c.G1060C:p.E354Q exonic ENSG00000010310 NA nonsynonymous SNV ENSG00000010310:ENST00000304207:exon11:c.G952C:p.E318Q,ENSG00000010310:ENST00000263281:exon12:c.G1060C:p.E354Q,ENSG00000010310:ENST00000590918:exon12:c.G1060C:p.E354Q Score=578;Name=lod=297 Name=Obesity 19q13.32 Score=874;Name=V$NMYC_01 Name=c-Myc,CTCF_(SC-5916),CTCF Name=21 NA rs1800437 0.18 0.18 0.165 0.161142 0.2137 0.2073 0.1268 0.1233 0.135 0.21 0.22 0.14 0.13 0.2019 0.22 0.07 T 1.0 D 0.999 D 0.000 D 0.021 P 2.545 M 0.9 T -1.097 T 0.000 T 0.134 4.468 23.9 3.14 0.954 3.265 11.062 4.46782 4.46782 0.01 0.203488 0.113482 NA 0.167 NA 18.7142454 28 20 61451332 61451332 C T exonic COL9A3 NA nonsynonymous SNV COL9A3:NM_001853:exon5:c.C307T:p.R103W exonic ENSG00000092758 NA nonsynonymous SNV ENSG00000092758:ENST00000452372:exon4:c.C196T:p.R66W,ENSG00000092758:ENST00000343916:exon5:c.C307T:p.R103W Score=457;Name=lod=96 NA 20q13.33 Score=795;Name=V$OLF1_01 NA NA NA rs61734651 0.03 0.03 0.026 0.0219649 0.0636 NA 0.0274 0.0038 0.0225 0.07 NA 0.04 0.0041 0.0479 0.07 0.02 D 0.997 D 0.761 P 0.052 U 0.816 D 2.92 M -1.78 D 0.001 D 0.323 T 0.598 2.993 15.98 3.59 2.106 0.835 8.333 2.992611 2.992611 0.01 0.067209 0.014526 NA 0.058 CLINSIG=other;CLNDBN=Intervertebral_disc_disease\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000018677.1;CLNDSDB=.;CLNDSDBID=. 18.6546244 29 12 52913668 52913668 C T exonic KRT5 NA nonsynonymous SNV KRT5:NM_000424:exon1:c.G413A:p.G138E exonic ENSG00000186081 NA nonsynonymous SNV ENSG00000186081:ENST00000252242:exon1:c.G413A:p.G138E,ENSG00000186081:ENST00000549420:exon2:c.G83A:p.G28E,ENSG00000186081:ENST00000551275:exon2:c.G308A:p.G103E Score=451;Name=lod=91 NA 12q13.13 NA Name=Pol2 NA NA rs11170164 0.03 0.03 0.029 0.0265575 0.0676 NA 0.0173 0.0045 0.0481 0.07 NA 0.01 0.0041 0.0582 0.074 0.01 D 0.959 D 0.503 P 0.000 D 0.999 D 3.09 M -1.02 T 0.002 D 0.391 T 0.521 3.255 16.92 5.45 2.559 . 19.286 3.25526 3.25526 0.01 0.074302 0.016114 NA 0.007 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056586.1;CLNDSDB=.;CLNDSDBID=. 18.6332314 30 8 101718965 101718965 G A exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon11:c.C1516T:p.R506C exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000517990:exon1:c.C43T:p.R15C,ENSG00000070756:ENST00000522658:exon2:c.C157T:p.R53C,ENSG00000070756:ENST00000318607:exon11:c.C1516T:p.R506C,ENSG00000070756:ENST00000519004:exon12:c.C1381T:p.R461C,ENSG00000070756:ENST00000522387:exon12:c.C1420T:p.R474C Score=624;Name=lod=459 NA 8q22.3 NA Name=CTCF_(SC-5916) Name=2 NA rs62513921 NA NA 0.27 NA NA NA NA NA NA NA NA NA NA 0.4118 NA 0.03 D 0.97 D 0.711 P 0.000 D 1.000 D 2.095 M 0.89 T -0.833 T 0.164 T 0.616 2.967 15.89 4.52 1.427 6.013 9.489 2.966636 2.966636 0 NA NA NA NA NA 18.4215334 31 17 45214527 45214527 T C exonic CDC27 NA nonsynonymous SNV CDC27:NM_001114091:exon14:c.A1922G:p.Y641C,CDC27:NM_001256:exon14:c.A1904G:p.Y635C exonic ENSG00000004897 NA nonsynonymous SNV ENSG00000004897:ENST00000446365:exon13:c.A1721G:p.Y574C,ENSG00000004897:ENST00000066544:exon14:c.A1904G:p.Y635C,ENSG00000004897:ENST00000527547:exon14:c.A1901G:p.Y634C,ENSG00000004897:ENST00000531206:exon14:c.A1922G:p.Y641C Score=658;Name=lod=631 NA 17q21.32 NA Name=IRF3,SUZ12,ZNF274,ZZZ3,EBF,c-Fos,GATA-2,c-Jun,YY1,CTCFL_(SC-98982),TAF1 Name=148 NA rs62075618 NA NA 0.28 NA NA NA NA NA NA NA NA NA NA 0.4763 0.087 0 D 0.985 D 0.79 P 0.000 D 0.000 P 3.91 H 0.26 T 0.329 D 0.469 T 0.933 5.004 29.4 5.98 2.293 6.308 14.409 5.004463 5.004463 0 NA NA NA 0.087 NA 18.3570334 32 9 37711382 37711382 G C exonic FRMPD1 NA nonsynonymous SNV FRMPD1:NM_014907:exon5:c.G398C:p.R133P exonic ENSG00000070601 NA nonsynonymous SNV ENSG00000070601:ENST00000377765:exon5:c.G398C:p.R133P,ENSG00000070601:ENST00000539465:exon5:c.G398C:p.R133P Score=472;Name=lod=111 NA 9p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.984 D 0.000 D 1.000 D 2.53 M 0.63 T -0.384 T 0.311 T 0.948 4.135 21.3 5.31 2.486 5.331 14.482 4.135137 4.135137 0 NA NA NA NA NA 18.3333334 32 11 45891977 45891977 T G exonic CRY2 NA nonsynonymous SNV CRY2:NM_001127457:exon9:c.T1260G:p.I420M,CRY2:NM_021117:exon9:c.T1506G:p.I502M exonic ENSG00000121671 NA nonsynonymous SNV ENSG00000121671:ENST00000417225:exon9:c.T1260G:p.I420M,ENSG00000121671:ENST00000443527:exon9:c.T1506G:p.I502M Score=538;Name=lod=204 NA 11p11.2 Score=764;Name=V$HOX13_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.923 P 0.85 P 0.000 D 0.997 D 3.075 M . . 0.057 D 0.461 T 0.487 3.783 19.2 -2.88 -0.421 -1.309 15.300 3.78254 3.78254 0 NA NA NA NA NA 18.3333334 32 16 23456431 23456431 G C exonic COG7 NA nonsynonymous SNV COG7:NM_153603:exon3:c.C373G:p.L125V exonic ENSG00000168434 NA nonsynonymous SNV ENSG00000168434:ENST00000307149:exon3:c.C373G:p.L125V Score=533;Name=lod=195 NA 16p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04 D 0.999 D 0.964 D 0.000 D 1.000 D 2.22 M 0.01 T -0.175 T 0.430 T 0.925 4.863 27.8 5.55 2.601 6.753 18.498 4.863331 4.863331 0 NA NA NA NA NA 18.3333334 32 5 140209597 140209597 G T exonic PCDHA6 NA nonsynonymous SNV PCDHA6:NM_018909:exon1:c.G1921T:p.D641Y,PCDHA6:NM_031848:exon1:c.G1921T:p.D641Y exonic ENSG00000081842 NA nonsynonymous SNV ENSG00000081842:ENST00000529310:exon1:c.G1921T:p.D641Y Score=259;Name=lod=15 NA 5q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002487 NA 0 D 1.0 D 0.99 D 0.002 U 1.000 D 3.355 M 0.69 T 0.010 D 0.385 T 0.531 1.802 11.98 3.98 2.216 5.619 16.652 1.801839 1.801839 0 NA NA NA NA NA 18.3333085 32 18 21494777 21494777 C A exonic LAMA3 NA nonsynonymous SNV LAMA3:NM_001127718:exon20:c.C2602A:p.P868T,LAMA3:NM_000227:exon21:c.C2770A:p.P924T,LAMA3:NM_001127717:exon57:c.C7429A:p.P2477T,LAMA3:NM_198129:exon58:c.C7597A:p.P2533T exonic ENSG00000053747 NA nonsynonymous SNV ENSG00000053747:ENST00000587184:exon20:c.C2602A:p.P868T,ENSG00000053747:ENST00000269217:exon21:c.C2770A:p.P924T,ENSG00000053747:ENST00000399516:exon57:c.C7429A:p.P2477T,ENSG00000053747:ENST00000313654:exon58:c.C7597A:p.P2533T Score=361;Name=lod=39 NA 18q11.2 NA NA NA NA rs201547061 0.0009 0.0009 NA 0.000399361 NA NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.00004956 0.0028 0.01 D 1.0 D 1.0 D . . 1.000 D 2.52 M -0.81 T 0.325 D 0.608 D 0.742 3.39 17.44 4.87 2.513 4.889 18.201 3.39001 3.39001 0 NA NA NA NA NA 18.3332838 32 12 21028181 21028181 T A exonic SLCO1B3 NA nonsynonymous SNV SLCO1B3:NM_019844:exon9:c.T740A:p.I247K exonic ENSG00000111700,ENSG00000257046 NA nonsynonymous SNV ENSG00000111700:ENST00000544370:exon3:c.T212A:p.I71K,ENSG00000257046:ENST00000540229:exon7:c.T740A:p.I247K,ENSG00000111700:ENST00000553473:exon7:c.T740A:p.I247K,ENSG00000111700:ENST00000261196:exon8:c.T740A:p.I247K,ENSG00000111700:ENST00000540853:exon8:c.T740A:p.I247K,ENSG00000111700:ENST00000381545:exon9:c.T740A:p.I247K Score=355;Name=lod=37 NA 12p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0 D 1.0 D 0.998 D 0.000 D 1.000 D 3.42 M 0.87 T -0.245 T 0.323 T 0.823 2.492 14.29 3.92 1.653 6.000 11.126 2.492348 2.492348 0 NA NA NA NA NA 18.3332334 32 17 39620376 39620376 C T exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon5:c.G950A:p.R317H exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon5:c.G950A:p.R317H Score=399;Name=lod=56 NA 17q21.2 NA NA NA NA rs144111267 0.0005 0.0005 NA 0.00179712 NA NA NA 0.0068 NA NA NA NA 0.002 0.001 0.0089 0.01 D 1.0 D 0.997 D 0.005 N 0.812 D 1.8 L -2.68 D 0.706 D 0.728 D 0.542 3.85 19.56 5.04 2.492 3.649 11.270 3.849917 3.849917 0.03 0 0.008852 NA NA NA 18.3323334 32 1 211836799 211836799 A G exonic NEK2 NA nonsynonymous SNV NEK2:NM_002497:exon8:c.T1307C:p.L436P exonic ENSG00000117650 NA nonsynonymous SNV ENSG00000117650:ENST00000366999:exon8:c.T1307C:p.L436P,ENSG00000117650:ENST00000540251:exon9:c.T1178C:p.L393P Score=374;Name=lod=44 NA 1q32.3 NA NA NA NA rs202099146 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00008719 0.0013 0.29 T 1.0 D 0.977 D 0.001 D 1.000 D 1.43 L -2.4 D 0.438 D 0.742 D 0.867 3.989 20.4 5.46 2.195 7.714 15.834 3.988833 3.988833 0.09 0.000349 0 NA NA NA 18.3318972 32 5 76029285 76029285 C A exonic F2R NA nonsynonymous SNV F2R:NM_001992:exon2:c.C1235A:p.S412Y exonic ENSG00000181104 NA nonsynonymous SNV ENSG00000181104:ENST00000319211:exon2:c.C1235A:p.S412Y NA NA 5q13.3 Score=719;Name=V$SEF1_C NA NA NA rs2227799 0.0005 0.0005 NA 0.00119808 0.003 NA 0.0014 0.0015 NA NA NA NA 0.002 0.0003 0.011 0.04 D 1.0 D 0.972 D 0.342 N 0.872 D 1.995 M -1.06 T 0.314 D 0.605 D 0.234 3.121 16.43 4.79 2.641 5.039 18.378 3.121071 3.121071 0 0.000233 0.000227 NA 0.007 NA 18.3298004 32 16 16208928 16208928 G A exonic ABCC1 NA nonsynonymous SNV ABCC1:NM_004996:exon23:c.G3385A:p.V1129I exonic ENSG00000103222 NA nonsynonymous SNV ENSG00000103222:ENST00000349029:exon21:c.G3040A:p.V1014I,ENSG00000103222:ENST00000346370:exon22:c.G3217A:p.V1073I,ENSG00000103222:ENST00000351154:exon22:c.G3208A:p.V1070I,ENSG00000103222:ENST00000345148:exon23:c.G3385A:p.V1129I,ENSG00000103222:ENST00000399410:exon23:c.G3385A:p.V1129I,ENSG00000103222:ENST00000399408:exon24:c.G3415A:p.V1139I Score=497;Name=lod=139 NA 16p13.11 NA NA NA NA rs74985930 0.0009 0.0009 NA 0.000399361 0.001 NA NA NA 0.001 0.0013 0.0017 NA NA 0.0015 0.0017 0.35 T 1.0 D 0.997 D 0.000 D 1.000 D 0.105 N -2.67 D 0.355 D 0.686 D 0.473 3.406 17.5 5.18 2.417 7.992 17.686 3.40567 3.40567 0.12 0.001299 0 ID=COSM702670;OCCURENCE=1(lung) NA NA 18.3295344 32 7 103969537 103969537 G T exonic LHFPL3 NA nonsynonymous SNV LHFPL3:NM_199000:exon1:c.G310T:p.A104S exonic ENSG00000187416 NA nonsynonymous SNV ENSG00000187416:ENST00000401970:exon1:c.G268T:p.A90S,ENSG00000187416:ENST00000424859:exon1:c.G268T:p.A90S,ENSG00000187416:ENST00000535008:exon1:c.G310T:p.A104S,ENSG00000187416:ENST00000543266:exon1:c.G310T:p.A104S Score=831;Name=lod=3182 NA 7q22.2 NA NA Name=3 NA rs190167677 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0009 0.0028 0.46 T 0.991 D 0.962 D 0.020 N 1.000 D 2.62 M -0.69 T 0.125 D 0.629 D 0.562 4.5 24.2 5.06 2.339 9.490 18.455 4.499961 4.499961 0.21 0.000949 0 NA NA NA 18.3294844 32 15 44856827 44856827 G A exonic SPG11 NA nonsynonymous SNV SPG11:NM_001160227:exon37:c.C6730T:p.L2244F,SPG11:NM_025137:exon39:c.C7069T:p.L2357F exonic ENSG00000104133 NA nonsynonymous SNV ENSG00000104133:ENST00000535302:exon37:c.C6730T:p.L2244F,ENSG00000104133:ENST00000261866:exon39:c.C7069T:p.L2357F Score=569;Name=lod=274 NA 15q21.1 Score=768;Name=V$MEF2_01 NA NA NA rs139334167 0.0027 0.0027 0.003 0.00179712 0.004 NA 0.0072 NA NA 0.004 NA 0.01 NA 0.0013 0.011 0.07 T 0.999 D 0.967 D 0.028 N 1.000 D 2.125 M -1.12 T 0.215 D 0.560 D 0.452 3.749 19.04 5.26 1.611 1.327 15.147 3.749209 3.749209 0.05 0.00221 0.000682 NA 0.007 NA 18.3258234 32 2 103334983 103334983 G C exonic MFSD9 NA nonsynonymous SNV MFSD9:NM_032718:exon6:c.C1321G:p.P441A exonic ENSG00000135953 NA nonsynonymous SNV ENSG00000135953:ENST00000258436:exon6:c.C1321G:p.P441A Score=346;Name=lod=34 NA 2q12.1 Score=779;Name=V$PAX5_01 NA NA NA rs34977505 0.02 0.02 0.017 0.0217652 0.001 NA 0.0058 0.0787 NA NA NA 0.01 0.07 0.0059 0.07 0.05 D 1.0 D 0.999 D 0.000 D 1.000 D 2.215 M -1.24 T -0.444 T 0.119 T 0.212 4.291 22.4 4.6 1.462 9.203 14.575 4.290996 4.290996 0.12 0.001047 0.057195 NA 0.022 NA 18.3253864 33 17 10354727 10354727 T G exonic MYH4 NA nonsynonymous SNV MYH4:NM_017533:exon28:c.A3781C:p.S1261R exonic ENSG00000264424 NA nonsynonymous SNV ENSG00000264424:ENST00000255381:exon28:c.A3781C:p.S1261R Score=401;Name=lod=57 NA 17p13.1 NA NA NA NA rs34610503 0.0005 0.0005 0.001 0.00239617 0.002 NA 0.0029 NA 0.0082 NA NA 0.0028 NA 0.0032 0.0033 0.01 D 0.849 P 0.649 P 0.001 U 0.979 D 2.865 M -1.65 D 0.444 D 0.646 D 0.629 4.172 21.6 5.62 2.263 2.043 11.245 4.17248 4.17248 NA 0.003256 0.000681 NA NA NA 18.3248774 33 12 58018668 58018668 T G exonic SLC26A10 NA nonsynonymous SNV SLC26A10:NM_133489:exon10:c.T1247G:p.L416R exonic ENSG00000135502 NA nonsynonymous SNV ENSG00000135502:ENST00000320442:exon10:c.T1247G:p.L416R,ENSG00000135502:ENST00000379218:exon11:c.T1354G:p.S452A Score=340;Name=lod=32 NA 12q13.3 NA NA NA NA rs111924104 0.0032 0.0032 0.001 0.00359425 0.003 NA 0.0058 0.0053 0.0041 0.01 NA 0.01 0.002 0.0054 0.01 0.03 D 0.997 D 0.952 D . . 1.000 D 1.735 L -2.4 D 0.394 D 0.697 D 0.659 2.246 13.47 3.65 2.029 4.422 7.261 2.246357 2.246357 0.02 0.00686 0.004085 NA NA NA 18.3180734 34 16 89986091 89986091 G A exonic MC1R NA nonsynonymous SNV MC1R:NM_002386:exon1:c.G425A:p.R142H exonic ENSG00000198211,ENSG00000258839 NA nonsynonymous SNV ENSG00000258839:ENST00000555147:exon1:c.G425A:p.R142H,ENSG00000198211:ENST00000556922:exon1:c.G425A:p.R142H,ENSG00000258839:ENST00000555427:exon3:c.G425A:p.R142H Score=538;Name=lod=204 NA 16q24.3 NA NA NA NA rs11547464 0.0037 0.0037 0.003 0.00279553 0.0089 NA 0.0058 0.0008 NA 0.01 NA 0.01 NA 0.005 0.01 . . 1.0 D 1.0 D 0.001 U 1.000 D 4.11 H -4.27 D 0.907 D 0.957 D 0.884 5.507 35 4.81 2.234 6.453 16.852 5.507412 5.507412 0 0.007442 0.000682 NA NA NA 18.3119914 35 2 179643775 179643775 C T exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon23:c.G3896A:p.G1299D,TTN:NM_133432:exon23:c.G3896A:p.G1299D,TTN:NM_133437:exon23:c.G3896A:p.G1299D,TTN:NM_001256850:exon24:c.G4034A:p.G1345D,TTN:NM_001267550:exon24:c.G4034A:p.G1345D,TTN:NM_133378:exon24:c.G4034A:p.G1345D,TTN:NM_133379:exon24:c.G4034A:p.G1345D exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon23:c.G3896A:p.G1299D,ENSG00000155657:ENST00000359218:exon23:c.G3896A:p.G1299D,ENSG00000155657:ENST00000460472:exon23:c.G3896A:p.G1299D,ENSG00000155657:ENST00000342992:exon24:c.G4034A:p.G1345D,ENSG00000155657:ENST00000360870:exon24:c.G4034A:p.G1345D,ENSG00000155657:ENST00000589042:exon24:c.G4034A:p.G1345D,ENSG00000155657:ENST00000591111:exon24:c.G4034A:p.G1345D Score=638;Name=lod=524 NA 2q31.2 Score=855;Name=V$ZID_01 NA NA NA rs36021856 0.01 0.01 0.004 0.00379393 0.0159 NA 0.0043 NA NA 0.02 NA 0.01 NA 0.0099 0.02 0 D 1.0 D 1.0 D . . 1.000 D 2.38 M -0.24 T -0.120 T 0.356 T 0.783 3.312 17.13 5.72 2.711 7.781 19.895 3.311645 3.311645 0.03 0.007326 0.000681 NA NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040288.1|RCV000126011.1;CLNDSDB=.|.;CLNDSDBID=.|. 18.3002074 35 6 31598523 31598523 C T exonic PRRC2A NA nonsynonymous SNV PRRC2A:NM_004638:exon15:c.C2410T:p.R804C,PRRC2A:NM_080686:exon15:c.C2410T:p.R804C exonic ENSG00000204469 NA nonsynonymous SNV ENSG00000204469:ENST00000376007:exon15:c.C2410T:p.R804C,ENSG00000204469:ENST00000376033:exon15:c.C2410T:p.R804C Score=355;Name=lod=37 NA 6p21.33 NA Name=Pol2-4H8,Pol2(b) Name=4 NA rs11538262 0.01 0.01 0 0.00638978 0.0159 0.003 0.0058 0.0015 0.0072 0.01 0.01 0.01 0.002 0.0076 0.011 0 D 1.0 D 0.996 D 0.000 D 1.000 D 0.975 L 3.15 T -1.105 T 0.026 T 0.253 1.64 11.44 4.2 1.359 1.916 11.851 1.639968 1.639968 0 0.011047 0.00227 NA 0.007 NA 18.2987864 36 19 7708058 7708058 C T exonic STXBP2 NA nonsynonymous SNV STXBP2:NM_001127396:exon13:c.C1025T:p.T342M,STXBP2:NM_001272034:exon13:c.C1067T:p.T356M,STXBP2:NM_006949:exon13:c.C1034T:p.T345M exonic ENSG00000076944 NA nonsynonymous SNV ENSG00000076944:ENST00000221283:exon13:c.C1034T:p.T345M,ENSG00000076944:ENST00000414284:exon13:c.C1025T:p.T342M,ENSG00000076944:ENST00000441779:exon13:c.C1067T:p.T356M Score=259;Name=lod=15 NA 19p13.2 Score=904;Name=V$AREB6_01 NA NA NA rs117761837 0.01 0.01 0.006 0.00459265 0.0139 NA 0.0072 0.0015 0.002 0.02 NA 0.01 NA 0.0109 0.02 0.02 D 1.0 D 0.992 D 0.000 D 1.000 D 2.045 M -0.99 T -0.144 T 0.353 T 0.361 2.642 14.8 4.31 2.513 7.661 12.170 2.642346 2.642346 0.02 0.016163 0.003404 NA 0.007 NA 18.2923704 36 1 63902524 63902524 C G exonic ALG6 NA nonsynonymous SNV ALG6:NM_013339:exon15:c.C1357G:p.L453V exonic ENSG00000088035 NA nonsynonymous SNV ENSG00000088035:ENST00000263440:exon14:c.C1363G:p.L455V,ENSG00000088035:ENST00000371108:exon15:c.C1357G:p.L453V Score=407;Name=lod=60 NA 1p31.3 NA NA NA NA rs41285372 0.01 0.01 0.003 0.00419329 0.0159 NA 0.0043 0.0008 0.001 0.01 NA 0.01 0.002 0.0121 0.018 0.12 T 1.0 D 0.998 D 0.000 D 1.000 D 2.25 M -1.76 D 0.120 D 0.585 D 0.241 3.125 16.45 3.19 0.647 2.010 11.104 3.125406 3.125406 0 0.017674 0.005447 NA NA NA 18.2876594 37 2 20130259 20130259 G A exonic WDR35 NA nonsynonymous SNV WDR35:NM_020779:exon25:c.C3019T:p.R1007C,WDR35:NM_001006657:exon26:c.C3052T:p.R1018C exonic ENSG00000118965 NA nonsynonymous SNV ENSG00000118965:ENST00000416055:exon17:c.C1471T:p.R491C,ENSG00000118965:ENST00000281405:exon25:c.C3019T:p.R1007C,ENSG00000118965:ENST00000345530:exon26:c.C3052T:p.R1018C Score=284;Name=lod=19 NA 2p24.1 NA NA NA NA rs56395266 0.01 0.01 0.005 0.00519169 0.0209 NA 0.0058 0.0008 NA 0.02 NA 0.01 NA 0.01 0.022 0.01 D 1.0 D 0.931 D 0.000 D 1.000 D 2.445 M -0.21 T 0.075 D 0.412 T 0.429 2.565 14.54 5.52 2.596 5.619 18.411 2.564551 2.564551 0.01 0.018488 0.004312 NA 0.014 NA 18.2839454 38 2 178545566 178545566 C T exonic PDE11A NA nonsynonymous SNV PDE11A:NM_001077196:exon13:c.G1079A:p.R360H,PDE11A:NM_001077358:exon15:c.G1337A:p.R446H,PDE11A:NM_016953:exon16:c.G2411A:p.R804H,PDE11A:NM_001077197:exon17:c.G1661A:p.R554H exonic ENSG00000128655 NA nonsynonymous SNV ENSG00000128655:ENST00000389683:exon13:c.G1079A:p.R360H,ENSG00000128655:ENST00000409504:exon15:c.G1337A:p.R446H,ENSG00000128655:ENST00000449286:exon15:c.G1337A:p.R446H,ENSG00000128655:ENST00000286063:exon16:c.G2411A:p.R804H,ENSG00000128655:ENST00000358450:exon17:c.G1661A:p.R554H Score=606;Name=lod=388 NA 2q31.2 NA NA NA NA rs75127279 0.01 0.01 0.002 0.0131789 0.0249 0.001 0.0101 NA 0.0337 0.03 NA 0.01 NA 0.0202 0.03 0 D 0.995 D 0.918 D 0.000 D 1.000 D 2.205 M -1.65 D -0.582 T 0.198 T 0.506 4.425 23.5 5.77 2.884 4.613 20.347 4.425447 4.425447 0 0.022103 0.004316 NA 0.007 NA 18.2661304 39 4 57248716 57248716 G C exonic AASDH NA nonsynonymous SNV AASDH:NM_181806:exon3:c.C278G:p.P93R exonic ENSG00000157426 NA nonsynonymous SNV ENSG00000157426:ENST00000205214:exon3:c.C278G:p.P93R,ENSG00000157426:ENST00000451613:exon3:c.C278G:p.P93R,ENSG00000157426:ENST00000502617:exon3:c.C278G:p.P93R,ENSG00000157426:ENST00000514745:exon3:c.C278G:p.P93R Score=278;Name=lod=18 NA 4q12 Score=855;Name=V$HAND1E47_01 Name=MafK_(ab50322) NA NA rs34228795 0.07 0.07 0.064 0.0646965 0.0179 0.1905 0.0231 0.0129 0.0828 0.02 0.21 0.04 0.02 0.043 0.21 0.02 D 0.995 D 0.962 D 0.000 D 0.000 P 3.24 M 0.8 T -1.042 T 0.001 T 0.276 2.399 13.98 5.03 1.468 4.194 12.111 2.39934 2.39934 0.07 0.020814 0.013164 NA 0.058 NA 18.2516194 40 13 114088074 114088074 G A exonic ADPRHL1 NA nonsynonymous SNV ADPRHL1:NM_138430:exon3:c.C488T:p.T163I,ADPRHL1:NM_199162:exon3:c.C242T:p.T81I exonic ENSG00000153531 NA nonsynonymous SNV ENSG00000153531:ENST00000356501:exon3:c.C242T:p.T81I,ENSG00000153531:ENST00000375418:exon3:c.C488T:p.T163I,ENSG00000153531:ENST00000413169:exon3:c.C242T:p.T81I Score=557;Name=lod=244 NA 13q34 Score=952;Name=V$TCF11_01 NA NA NA rs139075628 0.02 0.02 0.012 0.013778 0.0368 NA 0.0144 0.0008 0.0215 0.04 NA 0.02 0.01 0.0358 0.04 0 D 0.998 D 0.913 D 0.000 D 1.000 D 3.005 M -0.69 T -0.081 T 0.251 T 0.759 4.832 27.4 4.66 2.167 8.544 17.218 4.83249 4.83249 0.01 0.024796 0.005239 NA 0.007 NA 18.2359374 41 8 32611970 32611970 G T exonic NRG1 NA nonsynonymous SNV NRG1:NM_001159996:exon4:c.G319T:p.V107L,NRG1:NM_001160004:exon8:c.G772T:p.V258L,NRG1:NM_001160008:exon8:c.G772T:p.V258L,NRG1:NM_013957:exon8:c.G772T:p.V258L,NRG1:NM_013960:exon8:c.G781T:p.V261L,NRG1:NM_013964:exon8:c.G781T:p.V261L,NRG1:NM_013956:exon9:c.G796T:p.V266L exonic ENSG00000157168 NA nonsynonymous SNV ENSG00000157168:ENST00000519240:exon4:c.G310T:p.V104L,ENSG00000157168:ENST00000522402:exon4:c.G319T:p.V107L,ENSG00000157168:ENST00000539990:exon4:c.G310T:p.V104L,ENSG00000157168:ENST00000287845:exon7:c.G694T:p.V232L,ENSG00000157168:ENST00000519301:exon7:c.G631T:p.V211L,ENSG00000157168:ENST00000287840:exon8:c.G781T:p.V261L,ENSG00000157168:ENST00000287842:exon8:c.G772T:p.V258L,ENSG00000157168:ENST00000518104:exon8:c.G682T:p.V228L,ENSG00000157168:ENST00000521670:exon8:c.G781T:p.V261L,ENSG00000157168:ENST00000523079:exon8:c.G772T:p.V258L,ENSG00000157168:ENST00000338921:exon9:c.G805T:p.V269L,ENSG00000157168:ENST00000356819:exon9:c.G796T:p.V266L,ENSG00000157168:ENST00000405005:exon9:c.G781T:p.V261L,ENSG00000157168:ENST00000523534:exon9:c.G1000T:p.V334L Score=604;Name=lod=379 NA 8p12 Score=1000;Name=V$AML1_01 NA NA NA rs74942016 0.02 0.02 0.022 0.014377 0.0467 NA 0.0259 0.0008 0.0061 0.04 NA 0.02 NA 0.029 0.047 0.01 D 0.998 D 0.997 D 0.000 D 1.000 D 2.25 M 2.63 T -0.560 T 0.114 T 0.72 5.559 35 5.62 2.639 9.869 19.657 5.558867 5.558867 0.01 0.047093 0.010667 NA 0.022 NA 18.2105404 42 16 14029033 14029033 G A exonic ERCC4 NA nonsynonymous SNV ERCC4:NM_005236:exon8:c.G1244A:p.R415Q exonic ENSG00000175595 NA nonsynonymous SNV ENSG00000175595:ENST00000311895:exon8:c.G1244A:p.R415Q Score=489;Name=lod=129 NA 16p13.12 Score=710;Name=V$P53_01 NA NA NA rs1800067 0.03 0.03 0.026 0.0285543 0.0865 NA 0.0389 0.0038 0.0245 0.07 NA 0.04 0.01 0.0557 0.076 0.01 D 1.0 D 0.98 D 0.000 D 1.000 D 2.44 M -0.02 T -0.679 T 0.052 T 0.442 5.806 36 5.77 2.726 9.476 18.989 5.806123 5.806123 0 0.076512 0.012289 NA 0.087 NA 18.1146214 42 X 135956506 135956506 C G exonic RBMX NA nonsynonymous SNV RBMX:NM_002139:exon9:c.G971C:p.R324P exonic ENSG00000147274 NA nonsynonymous SNV ENSG00000147274:ENST00000565438:exon7:c.G587C:p.R196P,ENSG00000147274:ENST00000570135:exon8:c.G566C:p.R189P,ENSG00000147274:ENST00000320676:exon9:c.G971C:p.R324P Score=861;Name=lod=4226 NA Xq26.3 Score=807;Name=V$PAX3_01 Name=Pol2-4H8 NA NA rs77794331 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228 0.022 0.06 T 0.996 D 0.969 D 0.000 U 1.000 D 1.845 L -1.18 T 0.185 D 0.586 D 0.86 3.288 17.04 5.4 2.380 7.717 18.431 3.287583 3.287583 0.05 NA NA NA 0.022 NA 18.1053334 43 12 64173807 64173807 G A exonic TMEM5 NA nonsynonymous SNV TMEM5:NM_014254:exon1:c.G67A:p.A23T exonic ENSG00000118600 NA nonsynonymous SNV ENSG00000118600:ENST00000261234:exon1:c.G67A:p.A23T,ENSG00000118600:ENST00000543342:exon1:c.G67A:p.A23T Score=462;Name=lod=101 NA 12q14.2 NA Name=HMGN3,GABP,TAF1,YY1_(C-20),Pol2,ELF1_(SC-631),STAT1,Pol2(b),HA-E2F1,YY1,Egr-1,NFKB,c-Myc,CCNT2,IRF1,TBP Name=146 NA rs61935924 0.06 0.06 0.063 0.0523163 0.1044 0.0129 0.0562 0.0166 0.0849 0.1 0.01 0.07 0.02 0.0898 0.1 . . 1.0 D 0.997 D 0.000 D 1.000 D 1.555 L 1.47 T -1.203 T 0.004 T 0.158 4.54 24.5 2.5 1.009 4.363 6.754 4.540086 4.540086 0.15 0.105 0.02837 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118638.1;CLNDSDB=.;CLNDSDBID=. 18.0341334 44 6 123122464 123122464 C T exonic SMPDL3A NA nonsynonymous SNV SMPDL3A:NM_006714:exon4:c.C481T:p.P161S exonic ENSG00000172594 NA nonsynonymous SNV ENSG00000172594:ENST00000539041:exon3:c.C88T:p.P30S,ENSG00000172594:ENST00000368440:exon4:c.C481T:p.P161S Score=414;Name=lod=64 NA 6q22.31 NA NA Name=13 NA rs28385609 0.08 0.08 0.076 0.100639 0.1372 0.0248 0.0749 0.0507 0.227 0.15 0.02 0.07 0.05 0.1349 0.15 0.2 T 1.0 D 1.0 D 0.000 D 0.000 P 1.685 L -1.84 D 0.187 D 0.676 D 0.494 3.255 16.92 5.72 2.857 6.514 20.241 3.255243 3.255243 0 0.145698 0.046074 NA 0.08 NA 17.9155354 45 2 211060050 211060050 T G exonic ACADL NA nonsynonymous SNV ACADL:NM_001608:exon9:c.A997C:p.K333Q exonic ENSG00000115361 NA nonsynonymous SNV ENSG00000115361:ENST00000233710:exon9:c.A997C:p.K333Q Score=519;Name=lod=171 Name=Metabolite levels 2q34 Score=793;Name=V$OCT1_01 NA Name=28 NA rs2286963 0.23 0.23 0.228 0.211062 0.3131 0.1865 0.2248 0.0893 0.2863 0.32 0.18 0.28 0.11 0.3011 0.34 0.26 T 0.978 D 0.841 P 0.000 D 0.000 P 1.785 L -3.95 D -1.577 T 0.000 T 0.584 3.576 18.22 5.77 2.213 6.842 16.148 3.576473 3.576473 0.1 0.341395 0.150023 NA 0.261 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000115027.1;CLNDSDB=.;CLNDSDBID=. 17.8777384 46 22 24579157 24579157 G T exonic SUSD2 NA nonsynonymous SNV SUSD2:NM_019601:exon2:c.G209T:p.G70V exonic ENSG00000099994 NA nonsynonymous SNV ENSG00000099994:ENST00000358321:exon2:c.G209T:p.G70V Score=393;Name=lod=53 NA 22q11.23 NA NA NA NA rs79232038 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4683 NA 0.31 T 1.0 D 0.999 D 0.000 D 1.000 D 2.33 M -1.28 T 0.119 D 0.617 D 0.947 3.942 20.2 3.33 2.208 3.237 13.123 3.942095 3.942095 0 NA NA ID=COSM1180264;OCCURENCE=1(prostate) NA NA 17.8650334 47 17 21204192 21204192 C T exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000342679:exon5:c.C286T:p.R96W,ENSG00000034152:ENST00000361818:exon5:c.C199T:p.R67W,ENSG00000034152:ENST00000496046:exon5:c.C286T:p.R96W,ENSG00000034152:ENST00000526076:exon5:c.C199T:p.R67W,ENSG00000034152:ENST00000316920:exon6:c.C199T:p.R67W Score=461;Name=lod=100 NA 17p11.2 Score=801;Name=V$ER_Q6 NA NA NA rs56216806 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 0.01 D 1.0 D 0.994 D 0.000 D 1.000 D 2.375 M -0.23 T -0.944 T 0.000 T 0.939 2.698 14.98 5.08 2.359 2.458 13.451 2.698443 2.698443 0 NA NA NA 0.5 NA 17.8335334 47 11 48347067 48347067 C T exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.C575T:p.P192L exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.C575T:p.P192L Score=381;Name=lod=47 NA 11p11.2 Score=743;Name=V$SRF_01 NA NA NA rs73464001 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0 D 1.0 D 0.998 D 0.000 D 0.997 D 2.51 M 8.65 T -0.533 T 0.000 T 0.764 3.68 18.7 5.78 2.782 2.481 17.680 3.679921 3.679921 0.01 NA NA NA 0.377 NA 17.8333334 47 14 75416073 75416073 T C exonic PGF NA nonsynonymous SNV PGF:NM_001207012:exon3:c.A302G:p.N101S,PGF:NM_002632:exon3:c.A302G:p.N101S exonic ENSG00000119630 NA nonsynonymous SNV ENSG00000119630:ENST00000238607:exon3:c.A299G:p.N100S,ENSG00000119630:ENST00000405431:exon3:c.A302G:p.N101S,ENSG00000119630:ENST00000553716:exon3:c.A302G:p.N101S,ENSG00000119630:ENST00000555567:exon3:c.A302G:p.N101S Score=483;Name=lod=123 NA 14q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001789 NA 0 D 0.999 D 0.888 P 0.000 D 0.976 D 1.965 M . . -0.440 T 0.292 T 0.257 3.616 18.4 4.16 1.753 4.210 10.189 3.615925 3.615925 0 NA NA NA NA NA 17.8333155 47 9 109692959 109692959 G C exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon4:c.G6001C:p.A2001P exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000374686:exon2:c.G2650C:p.A884P,ENSG00000148143:ENST00000441147:exon2:c.G2536C:p.A846P,ENSG00000148143:ENST00000277225:exon4:c.G6001C:p.A2001P,ENSG00000148143:ENST00000457913:exon4:c.G6001C:p.A2001P Score=419;Name=lod=67 NA 9q31.2 Score=758;Name=V$HEN1_02 NA Name=7 NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00002474 NA 0.1 T 0.991 D 0.766 P 0.000 D 1.000 D 0.55 N 3.9 T -1.035 T 0.024 T 0.8 3.262 16.95 5.09 2.359 2.745 13.474 3.262111 3.262111 0.01 NA NA NA NA NA 17.8323087 47 5 39311336 39311336 A T exonic C9 NA nonsynonymous SNV C9:NM_001737:exon7:c.T1014A:p.F338L exonic ENSG00000113600 NA nonsynonymous SNV ENSG00000113600:ENST00000263408:exon7:c.T1014A:p.F338L Score=533;Name=lod=195 NA 5p13.1 Score=741;Name=V$MEF2_04 NA NA NA rs141600725 0.0005 0.0005 NA 0.000399361 NA NA 0.0014 NA 0.001 NA NA 0.0028 NA 0.0008 0.0028 0.48 T 0.957 D 0.67 P 0.000 D 0.981 D 1.75 L -2.07 D -0.125 T 0.536 D 0.679 4.201 21.8 4.31 2.082 1.646 9.879 4.201417 4.201417 0.04 0.002093 0.000681 NA NA NA 17.8304404 48 11 16824599 16824599 C T exonic PLEKHA7 NA nonsynonymous SNV PLEKHA7:NM_175058:exon15:c.G2077A:p.V693I exonic ENSG00000166689 NA nonsynonymous SNV ENSG00000166689:ENST00000525581:exon3:c.G70A:p.V24I,ENSG00000166689:ENST00000355661:exon15:c.G2077A:p.V693I,ENSG00000166689:ENST00000448080:exon15:c.G2077A:p.V693I,ENSG00000166689:ENST00000531066:exon15:c.G2077A:p.V693I Score=595;Name=lod=349 NA 11p15.1 Score=795;Name=V$ER_Q6 NA NA NA rs34556458 0.01 0.01 0.005 0.0061901 0.0119 NA 0.0202 0.0008 0.0041 0.01 NA 0.03 0.002 0.0068 0.03 0.04 D 0.995 D 0.867 P 0.000 D 1.000 D 2.215 M 1.41 T -0.980 T 0.075 T 0.497 5.112 32 5.84 2.768 7.272 19.738 5.112012 5.112012 0.18 0.007802 0.001591 NA NA NA 17.8068314 49 10 95093619 95093619 G A exonic MYOF NA nonsynonymous SNV MYOF:NM_133337:exon41:c.C4576T:p.P1526S,MYOF:NM_013451:exon42:c.C4615T:p.P1539S exonic ENSG00000138119 NA nonsynonymous SNV ENSG00000138119:ENST00000358334:exon41:c.C4576T:p.P1526S,ENSG00000138119:ENST00000359263:exon42:c.C4615T:p.P1539S,ENSG00000138119:ENST00000371501:exon42:c.C4615T:p.P1539S,ENSG00000138119:ENST00000371502:exon43:c.C4672T:p.P1558S Score=543;Name=lod=214 NA 10q23.33 Score=760;Name=V$LUN1_01 Name=STAT3,JunD Name=23 NA rs61861290 0.01 0.01 0.006 0.0061901 0.0189 NA 0.0144 0.0008 0.001 0.02 NA 0.02 0.002 0.0109 0.02 0.12 T 0.973 D 0.749 P 0.000 D 1.000 D 1.67 L 1.1 T -0.954 T 0.103 T 0.339 4.797 27.1 5.23 2.721 9.263 18.999 4.797467 4.797467 0.02 0.016845 0.003406 NA 0.007 NA 17.7866884 50 1 150940625 150940625 T G exonic CERS2 NA nonsynonymous SNV CERS2:NM_022075:exon4:c.A344C:p.E115A,CERS2:NM_181746:exon4:c.A344C:p.E115A exonic ENSG00000143418 NA nonsynonymous SNV ENSG00000143418:ENST00000558062:exon3:c.A344C:p.E115A,ENSG00000143418:ENST00000561294:exon3:c.A317C:p.E106A,ENSG00000143418:ENST00000271688:exon4:c.A344C:p.E115A,ENSG00000143418:ENST00000361419:exon4:c.A344C:p.E115A,ENSG00000143418:ENST00000368949:exon4:c.A344C:p.E115A,ENSG00000143418:ENST00000368954:exon4:c.A344C:p.E115A,ENSG00000143418:ENST00000421609:exon4:c.A344C:p.E115A,ENSG00000143418:ENST00000457392:exon4:c.A344C:p.E115A Score=636;Name=lod=511 Name=Rhegmatogenous retinal detachment 1q21.3 NA NA NA NA rs267738 0.1 0.1 0.074 0.0680911 0.1909 0.0258 0.0951 0.0061 0.0501 0.2 0.03 0.11 0.01 0.1469 0.21 0.28 T 0.863 P 0.756 P 0.000 D 0.000 P 2.565 M -3.89 D 0.822 D 0.867 D 0.322 5.158 32 4.9 2.058 7.460 14.374 5.158232 5.158232 0.01 0.211744 0.039946 ID=COSM1333906;OCCURENCE=1(large_intestine) 0.058 NA 17.7837894 51 8 145006992 145006992 C T exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon14:c.G1664A:p.R555Q,PLEC:NM_201379:exon14:c.G1640A:p.R547Q,PLEC:NM_201380:exon14:c.G2117A:p.R706Q,PLEC:NM_201381:exon14:c.G1610A:p.R537Q,PLEC:NM_201382:exon14:c.G1706A:p.R569Q,PLEC:NM_201383:exon14:c.G1718A:p.R573Q,PLEC:NM_201384:exon14:c.G1706A:p.R569Q,PLEC:NM_000445:exon15:c.G1787A:p.R596Q exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon14:c.G2117A:p.R706Q,ENSG00000178209:ENST00000345136:exon14:c.G1706A:p.R569Q,ENSG00000178209:ENST00000354589:exon14:c.G1706A:p.R569Q,ENSG00000178209:ENST00000354958:exon14:c.G1640A:p.R547Q,ENSG00000178209:ENST00000356346:exon14:c.G1664A:p.R555Q,ENSG00000178209:ENST00000357649:exon14:c.G1718A:p.R573Q,ENSG00000178209:ENST00000398774:exon14:c.G1610A:p.R537Q,ENSG00000178209:ENST00000527096:exon14:c.G1775A:p.R592Q,ENSG00000178209:ENST00000436759:exon15:c.G1787A:p.R596Q,ENSG00000178209:ENST00000528025:exon16:c.G1838A:p.R613Q Score=587;Name=lod=325 NA 8q24.3 NA NA NA NA rs3135103 0.01 0.01 0.008 0.00658946 0.0258 0.001 0.0058 NA 0.002 0.02 0.0017 0.01 NA 0.015 0.02 0.12 T 0.993 D 0.494 P 0.029 U 1.000 D 1.01 L -3.06 D 0.174 D 0.506 D 0.346 3.252 16.91 5.12 2.390 4.329 17.322 3.252136 3.252136 0.06 0.019533 0.005024 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117956.2;CLNDSDB=.;CLNDSDBID=. 17.7730004 52 15 79083120 79083120 G A exonic ADAMTS7 NA nonsynonymous SNV ADAMTS7:NM_014272:exon6:c.C920T:p.T307M exonic ENSG00000136378 NA nonsynonymous SNV ENSG00000136378:ENST00000388820:exon6:c.C920T:p.T307M Score=467;Name=lod=105 NA 15q25.1 Score=733;Name=V$PAX4_04 NA NA NA rs2127898 0.25 0.25 0.257 NA NA NA NA NA NA 0.23 0.28 0.3 0.21 0.3215 0.3 0.01 D 1.0 D 0.98 D 0.000 D 0.031 P 2.645 M -2.36 D -1.272 T 0.000 T 0.1 3.084 16.3 2.85 1.060 4.633 7.958 3.084407 3.084407 0 0.261822 0.286885 NA 0.261 NA 17.7500114 53 19 54662043 54662043 C T exonic LENG1 NA nonsynonymous SNV LENG1:NM_024316:exon2:c.G289A:p.E97K exonic ENSG00000105617 NA nonsynonymous SNV ENSG00000105617:ENST00000222224:exon2:c.G289A:p.E97K Score=440;Name=lod=82 NA 19q13.42 Score=780;Name=V$MEF2_02 NA NA NA rs35089861 0.03 0.03 0.021 0.0173722 0.0616 0.001 0.0245 0.0023 0.0041 0.06 NA 0.02 NA 0.0379 0.06 0.04 D 0.975 D 0.632 P 0.000 D 1.000 D 3.405 M 0.57 T -0.548 T 0.063 T 0.308 5.073 31 5.14 2.578 3.341 17.825 5.072531 5.072531 0 0.05407 0.006809 NA 0.029 NA 17.6797634 53 9 15459821 15459821 A C exonic SNAPC3 NA nonsynonymous SNV SNAPC3:NM_001039697:exon9:c.A1193C:p.E398A exonic ENSG00000164975 NA nonsynonymous SNV ENSG00000164975:ENST00000380821:exon9:c.A1193C:p.E398A,ENSG00000164975:ENST00000467062:exon9:c.A1193C:p.E398A,ENSG00000164975:ENST00000490969:exon9:c.A1193C:p.E398A Score=689;Name=lod=840 NA 9p22.3 Score=965;Name=V$CREL_01 NA NA NA rs3087653 0.04 0.04 0.037 0.0385383 0.0596 NA 0.0231 0.0416 0.0634 0.05 NA 0.03 0.05 0.0451 0.076 0.05 D 0.98 D 0.721 P 0.000 D 1.000 D 2.005 M 0.93 T -0.994 T 0.042 T 0.347 5.082 31 5.86 2.367 7.283 16.560 5.081553 5.081553 0.05 0.049419 0.03291 NA 0.051 NA 17.6792144 54 11 89017961 89017961 G A exonic TYR NA nonsynonymous SNV TYR:NM_000372:exon4:c.G1205A:p.R402Q exonic ENSG00000077498 NA nonsynonymous SNV ENSG00000077498:ENST00000263321:exon4:c.G1205A:p.R402Q Score=505;Name=lod=150 Name=Tanning,Sunburns 11q14.3 NA NA NA NA rs1126809 0.11 0.11 0.099 0.08127 0.2525 0.001 0.1254 0.0091 0.0542 0.25 NA 0.15 0.01 0.177 0.28 . . 0.999 D 0.994 D 0.000 D 0.000 P 2.025 M -4.81 D -1.761 T 0.001 T 0.836 5.014 29.5 4.68 2.166 7.499 17.625 5.013726 5.013726 0.02 0.281228 0.050659 NA 0.188 CLINSIG=other|pathogenic|other|other|other|pathogenic|untested;CLNDBN=Oculocutaneous_albinism_type_1B|Oca1-ts|Cutaneous_malignant_melanoma_8|Skin/hair/eye_pigmentation\x2c_variation_in\x2c_3|Skin/hair/eye_pigmentation_3\x2c_blue/green_eyes|WAARDENBURG_SYNDROME_2_AND_OCULAR_ALBINISM\x2c_DIGENIC|not_provided;CLNREVSTAT=mult|single|single|single|single|single|not;CLNACC=RCV000003978.5|RCV000003979.3|RCV000003980.3|RCV000003981.4|RCV000003982.4|RCV000023596.3|RCV000085910.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet|.|MedGen:OMIM:Orphanet|MedGen:OMIM|.|.|.;CLNDSDBID=NBK1166:C1847024:606952:ORPHA352731:ORPHA352737:ORPHA79434|.|C3152204:614456:ORPHA293822|C2677190:601800|.|.|. 17.6226054 55 8 101719121 101719121 G A exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon10:c.C1441T:p.R481C exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000522658:exon1:c.C82T:p.R28C,ENSG00000070756:ENST00000318607:exon10:c.C1441T:p.R481C,ENSG00000070756:ENST00000519004:exon11:c.C1306T:p.R436C,ENSG00000070756:ENST00000522387:exon11:c.C1345T:p.R449C Score=494;Name=lod=136 NA 8q22.3 Score=833;Name=V$FREAC4_01 NA Name=2 NA rs79986761 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2769 NA 0.03 D 0.87 P 0.368 B 0.000 D 1.000 D 2.345 M 2.54 T -0.696 T 0.189 T 0.929 3.493 17.86 5.63 2.816 8.991 20.034 3.492858 3.492858 0 NA NA NA NA NA 17.5564334 56 10 73558952 73558952 C T exonic CDH23 NA nonsynonymous SNV CDH23:NM_001171933:exon4:c.C419T:p.P140L,CDH23:NM_001171934:exon4:c.C419T:p.P140L,CDH23:NM_022124:exon49:c.C7139T:p.P2380L exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000398788:exon4:c.C419T:p.P140L,ENSG00000107736:ENST00000224721:exon50:c.C7154T:p.P2385L Score=387;Name=lod=50 NA 10q22.1 Score=990;Name=V$MZF1_01 NA NA NA rs4747195 0.34 0.34 0.294 0.328275 0.2744 0.5298 0.3473 0.2443 0.2761 0.27 0.52 0.3 0.27 0.2997 0.52 0.03 D 1.0 D 0.981 D 0.000 D 0.000 P 2.605 M 5.69 T -0.845 T 0.000 T 0.331 4.305 22.5 5.55 2.623 7.786 19.516 4.304758 4.304758 0 0.261241 0.24006 ID=COSM146955;OCCURENCE=1(stomach) 0.326 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039264.1|RCV000124204.1;CLNDSDB=.|.;CLNDSDBID=.|. 17.4979924 57 2 152476028 152476028 C G exonic NEB NA nonsynonymous SNV NEB:NM_004543:exon69:c.G10044C:p.W3348C,NEB:NM_001164507:exon73:c.G10809C:p.W3603C,NEB:NM_001164508:exon73:c.G10809C:p.W3603C,NEB:NM_001271208:exon73:c.G10809C:p.W3603C exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000172853:exon69:c.G10080C:p.W3360C,ENSG00000183091:ENST00000409198:exon70:c.G10080C:p.W3360C,ENSG00000183091:ENST00000603639:exon71:c.G10809C:p.W3603C,ENSG00000183091:ENST00000604864:exon71:c.G10809C:p.W3603C,ENSG00000183091:ENST00000397345:exon73:c.G10809C:p.W3603C,ENSG00000183091:ENST00000427231:exon73:c.G10809C:p.W3603C Score=457;Name=lod=96 NA 2q23.3 NA Name=CTCF,JunD,c-Jun,HA-E2F1,eGFP-JunD,GATA-2,c-Fos,NRSF Name=67 NA rs10172023 0.25 0.25 0.233 0.219848 0.3062 0.244 0.2478 0.1316 0.2055 0.32 0.25 0.23 0.14 0.2891 0.33 0.07 T 1.0 D 0.995 D 0.000 D 0.000 P 2.885 M 1.46 T -1.099 T 0.000 T 0.788 2.387 13.94 5.61 2.793 1.494 16.270 2.387416 2.387416 0.03 0.331429 0.138985 NA 0.167 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081108.3;CLNDSDB=.;CLNDSDBID=. 17.4066044 58 7 27856536 27856536 A G exonic TAX1BP1 NA nonsynonymous SNV TAX1BP1:NM_001206902:exon14:c.A1367G:p.D456G,TAX1BP1:NM_001079864:exon15:c.A1838G:p.D613G,TAX1BP1:NM_001206901:exon15:c.A1838G:p.D613G,TAX1BP1:NM_006024:exon15:c.A1964G:p.D655G exonic ENSG00000106052 NA nonsynonymous SNV ENSG00000106052:ENST00000457186:exon7:c.A575G:p.D192G,ENSG00000106052:ENST00000433216:exon14:c.A1367G:p.D456G,ENSG00000106052:ENST00000265393:exon15:c.A1838G:p.D613G,ENSG00000106052:ENST00000396319:exon15:c.A1964G:p.D655G,ENSG00000106052:ENST00000543117:exon15:c.A1838G:p.D613G,ENSG00000106052:ENST00000409980:exon16:c.A2036G:p.D679G Score=573;Name=lod=283 NA 7p15.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08 T 0.999 D 0.985 D 0.000 D 1.000 D 2.085 M 2.55 T -0.649 T 0.246 T 0.811 4.056 20.8 5.67 2.178 7.141 15.915 4.055665 4.055665 0 NA NA NA NA NA 17.3333334 58 16 72055110 72055110 G C exonic DHODH NA nonsynonymous SNV DHODH:NM_001361:exon5:c.G605C:p.G202A exonic ENSG00000102967 NA nonsynonymous SNV ENSG00000102967:ENST00000219240:exon5:c.G605C:p.G202A,ENSG00000102967:ENST00000572887:exon5:c.G605C:p.G202A Score=449;Name=lod=89 NA 16q22.2 NA Name=CTCF,Rad21,GABP Name=4 NA rs267606767 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46 T 0.158 B 0.12 B 0.000 D 1.000 D 0.255 N -2.08 D -0.390 T 0.436 T 0.951 2.111 13.01 5.23 2.596 9.697 19.193 2.110802 2.110802 0.16 NA NA NA NA CLINSIG=pathogenic;CLNDBN=Miller_syndrome,Miller_syndrome;CLNREVSTAT=single,single;CLNACC=RCV000018296.26,RCV000018295.26;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT,MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0265257:263750:ORPHA246:66038001,C0265257:263750:ORPHA246:66038001 17.3333334 58 2 73746975 73746975 A G exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon11:c.A9610G:p.T3204A exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon10:c.A9484G:p.T3162A,ENSG00000116127:ENST00000264448:exon11:c.A9610G:p.T3204A Score=459;Name=lod=98 NA 2p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008286 NA 0.01 D 0.999 D 0.996 D 0.000 D 1.000 D 1.525 L 2.69 T -1.141 T 0.075 T 0.775 4.154 21.5 5.62 2.277 4.868 12.513 4.153814 4.153814 0 NA NA NA NA NA 17.3333251 58 11 73809278 73809278 G C exonic C2CD3 NA nonsynonymous SNV C2CD3:NM_015531:exon16:c.C2755G:p.L919V exonic ENSG00000168014 NA nonsynonymous SNV ENSG00000168014:ENST00000313663:exon16:c.C2755G:p.L919V,ENSG00000168014:ENST00000334126:exon16:c.C2755G:p.L919V Score=652;Name=lod=593 NA 11q13.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008256 NA 0.13 T 0.998 D 0.996 D 0.000 D 1.000 D 2.26 M 0.23 T -0.331 T 0.408 T 0.756 4.852 27.7 5.62 2.794 5.570 19.625 4.852433 4.852433 0 NA NA NA NA NA 17.3333251 58 3 100605051 100605051 C A exonic ABI3BP NA nonsynonymous SNV ABI3BP:NM_015429:exon5:c.G599T:p.G200V exonic ENSG00000154175 NA nonsynonymous SNV ENSG00000154175:ENST00000527258:exon4:c.G356T:p.G119V,ENSG00000154175:ENST00000530539:exon4:c.G419T:p.G140V,ENSG00000154175:ENST00000284322:exon5:c.G599T:p.G200V,ENSG00000154175:ENST00000471714:exon5:c.G599T:p.G200V,ENSG00000154175:ENST00000495063:exon5:c.G599T:p.G200V Score=502;Name=lod=146 NA 3q12.2 NA NA NA NA rs199740093 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001666 NA 0.01 D 1.0 D 1.0 D 0.000 D 1.000 D 1.905 M 1.14 T -0.713 T 0.230 T 0.97 4.713 26.2 5.71 2.695 6.753 19.853 4.713332 4.713332 0 NA NA NA NA NA 17.3333167 58 14 45400737 45400737 G A exonic KLHL28 NA nonsynonymous SNV KLHL28:NM_017658:exon4:c.C1351T:p.R451C exonic ENSG00000179454 NA nonsynonymous SNV ENSG00000179454:ENST00000355081:exon4:c.C1393T:p.R465C,ENSG00000179454:ENST00000396128:exon4:c.C1351T:p.R451C Score=733;Name=lod=1274 NA 14q21.2 Score=834;Name=V$PAX3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001687 NA 0.18 T 1.0 D 0.999 D 0.000 D 1.000 D 0.33 N -1.33 T -0.016 T 0.489 T 0.954 2.337 13.77 4.72 2.321 5.164 17.631 2.33746 2.33746 0.19 NA NA NA NA NA 17.3333165 58 17 33457364 33457364 C T exonic FNDC8 NA nonsynonymous SNV FNDC8:NM_017559:exon4:c.C886T:p.R296W exonic ENSG00000073598 NA nonsynonymous SNV ENSG00000073598:ENST00000158009:exon4:c.C886T:p.R296W Score=426;Name=lod=72 NA 17q12 Score=694;Name=V$PPARG_02 Name=Pol2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002472 NA 0 D 0.993 D 0.353 B 0.111 N 1.000 D 0.345 N 1.38 T -1.087 T 0.053 T 0.28 2.499 14.32 3.92 1.399 2.161 10.565 2.498818 2.498818 NA NA NA NA NA NA 17.3333087 58 19 13869786 13869786 G A exonic CCDC130 NA nonsynonymous SNV CCDC130:NM_030818:exon7:c.G362A:p.R121H exonic ENSG00000104957 NA nonsynonymous SNV ENSG00000104957:ENST00000589096:exon1:c.G65A:p.R22H,ENSG00000104957:ENST00000586666:exon6:c.G215A:p.R72H,ENSG00000104957:ENST00000221554:exon7:c.G362A:p.R121H,ENSG00000104957:ENST00000586600:exon8:c.G362A:p.R121H Score=529;Name=lod=188 NA 19p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000254 NA 0.12 T 1.0 D 0.996 D 0.000 D 1.000 D 2.295 M 1.46 T -0.822 T 0.194 T 0.761 5.029 29.7 5.06 2.645 8.591 15.954 5.028667 5.028667 0 NA NA ID=COSM991728;OCCURENCE=1(endometrium) NA NA 17.333308 58 1 26161677 26161677 C T exonic AUNIP NA nonsynonymous SNV AUNIP:NM_024037:exon3:c.G881A:p.G294D exonic ENSG00000127423 NA nonsynonymous SNV ENSG00000127423:ENST00000374298:exon3:c.G881A:p.G294D,ENSG00000127423:ENST00000538789:exon3:c.G881A:p.G294D Score=494;Name=lod=136 NA 1p36.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004123 NA 0 D 1.0 D 1.0 D 0.000 D 0.997 D 1.1 L -0.43 T -0.311 T 0.372 T 0.853 4.158 21.5 5.39 2.826 3.943 14.588 4.158297 4.158297 NA NA NA NA NA NA 17.3332922 58 5 172341813 172341813 G A exonic ERGIC1 NA nonsynonymous SNV ERGIC1:NM_001031711:exon5:c.G347A:p.R116H exonic ENSG00000113719 NA nonsynonymous SNV ENSG00000113719:ENST00000326654:exon3:c.G212A:p.R71H,ENSG00000113719:ENST00000518247:exon3:c.G212A:p.R71H,ENSG00000113719:ENST00000393784:exon5:c.G347A:p.R116H,ENSG00000113719:ENST00000520326:exon5:c.G347A:p.R116H,ENSG00000113719:ENST00000523291:exon5:c.G347A:p.R116H Score=567;Name=lod=269 NA 5q35.1 NA NA NA NA rs369010301 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008286 0.0001 0.02 D 1.0 D 0.999 D 0.000 D 1.000 D 2.375 M . . -0.042 T 0.465 T 0.942 5.204 33 5.37 2.505 9.356 18.749 5.204417 5.204417 0.01 0.000116 0 NA NA NA 17.3332091 58 11 88911696 88911696 C A exonic TYR NA nonsynonymous SNV TYR:NM_000372:exon1:c.C575A:p.S192Y exonic ENSG00000077498 NA nonsynonymous SNV ENSG00000077498:ENST00000263321:exon1:c.C575A:p.S192Y NA Name=Skin pigmentation,Freckles 11q14.3 Score=929;Name=V$ZIC3_01 NA NA NA rs1042602 0.18 0.18 0.171 0.123403 0.3718 0.001 0.2378 0.0121 0.0634 0.37 0.0017 0.31 0.01 0.2518 0.38 . . 0.997 D 0.974 D 0.000 D 1.000 P 2.135 M -5.1 D -1.784 T 0.000 T 0.455 3.276 17 6.07 2.885 4.436 15.385 3.27596 3.27596 0.07 0.376716 0.075647 ID=COSM430000;OCCURENCE=1(breast) 0.232 CLINSIG=other|non-pathogenic|untested;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_3|Oculocutaneous_albinism_type_1A|not_provided;CLNREVSTAT=single|single|not;CLNACC=RCV000003977.4|RCV000055807.1|RCV000085955.1;CLNDSDB=MedGen:OMIM|GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT|.;CLNDSDBID=C2677190:601800|NBK1166:C0268494:203100:ORPHA352731:ORPHA79431:6483008|. 17.3330174 58 1 161681057 161681057 C T exonic FCRLA NA nonsynonymous SNV FCRLA:NM_032738:exon3:c.C343T:p.R115C,FCRLA:NM_001184866:exon4:c.C361T:p.R121C exonic ENSG00000132185 NA nonsynonymous SNV ENSG00000132185:ENST00000236938:exon3:c.C343T:p.R115C,ENSG00000132185:ENST00000349527:exon3:c.C292T:p.R98C,ENSG00000132185:ENST00000367953:exon4:c.C310T:p.R104C,ENSG00000132185:ENST00000367959:exon4:c.C361T:p.R121C,ENSG00000132185:ENST00000540926:exon4:c.C310T:p.R104C Score=295;Name=lod=21 NA 1q23.3 Score=798;Name=V$PAX5_02 NA NA NA rs147592382 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.00009095 0.0002 0 D 1.0 D 0.949 D 0.541 N 1.000 D 3.42 M 2.6 T -0.952 T 0.087 T 0.495 3.694 18.77 4.07 1.312 1.376 9.271 3.694062 3.694062 0 0.000233 0 NA NA NA 17.3330094 58 6 128303989 128303989 T A exonic PTPRK NA nonsynonymous SNV PTPRK:NM_002844:exon24:c.A3524T:p.K1175M,PTPRK:NM_001135648:exon25:c.A3542T:p.K1181M exonic ENSG00000152894 NA nonsynonymous SNV ENSG00000152894:ENST00000368215:exon24:c.A3521T:p.K1174M,ENSG00000152894:ENST00000368226:exon24:c.A3524T:p.K1175M,ENSG00000152894:ENST00000368213:exon25:c.A3542T:p.K1181M,ENSG00000152894:ENST00000368227:exon25:c.A3575T:p.K1192M,ENSG00000152894:ENST00000368210:exon26:c.A3578T:p.K1193M,ENSG00000152894:ENST00000532331:exon27:c.A3590T:p.K1197M,ENSG00000152894:ENST00000368207:exon28:c.A3620T:p.K1207M Score=583;Name=lod=312 NA 6q22.33 NA NA NA NA rs144386522 NA NA NA 0.000599042 NA NA NA NA 0.0031 NA NA NA NA 0.0004 0.0003 0 D 0.999 D 0.984 D 0.000 D 1.000 D 1.935 M 1.54 T -0.906 T 0.137 T 0.833 4.502 24.2 5.98 2.289 8.040 16.456 4.502096 4.502096 0 0.000349 0 NA NA NA 17.3325844 59 4 79432453 79432453 G A exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_025074:exon64:c.G9806A:p.R3269Q exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon64:c.G9806A:p.R3269Q Score=627;Name=lod=469 NA 4q21.21 NA NA NA NA rs61729366 0.0037 0.0037 0.004 0.00139776 0.006 NA NA 0.0008 NA 0.01 NA NA 0.002 0.0057 0.011 0.04 D 1.0 D 0.999 D 0.000 D 1.000 D 2.175 M 2.46 T -1.046 T 0.097 T 0.758 5.455 35 5.7 2.698 9.657 19.831 5.454638 5.454638 0 0.009813 0.00119 NA 0.007 NA 17.3118204 59 16 16295863 16295863 T C exonic ABCC6 NA nonsynonymous SNV ABCC6:NM_001171:exon9:c.A1171G:p.R391G exonic ENSG00000091262 NA nonsynonymous SNV ENSG00000091262:ENST00000205557:exon9:c.A1171G:p.R391G,ENSG00000091262:ENST00000456970:exon9:c.A1171G:p.R391G Score=537;Name=lod=203 NA 16p13.11 NA Name=PU.1 NA NA rs72653762 0.0032 0.0032 NA 0.00279553 0.0099 NA 0.0029 NA 0.002 0.01 NA 0.0028 NA 0.0061 0.01 0 D 1.0 D 1.0 D 0.000 U 1.000 D 2.68 M -2.8 D 0.533 D 0.760 D 0.972 2.833 15.44 1.8 0.510 0.549 9.238 2.832967 2.832967 0 0.009186 0.001821 NA NA NA 17.3081474 60 7 92763720 92763720 G A exonic SAMD9L NA nonsynonymous SNV SAMD9L:NM_152703:exon5:c.C1565T:p.A522V exonic ENSG00000177409 NA nonsynonymous SNV ENSG00000177409:ENST00000318238:exon5:c.C1565T:p.A522V,ENSG00000177409:ENST00000411955:exon6:c.C1565T:p.A522V,ENSG00000177409:ENST00000437805:exon6:c.C1565T:p.A522V Score=415;Name=lod=65 NA 7q21.2 NA NA NA NA rs151304501 0.01 0.01 0.005 0.00698882 0.0139 NA 0.0187 0.0015 0.0061 0.01 NA 0.02 0.002 0.0143 0.022 0.01 D 0.996 D 0.929 D 0.000 D 0.974 D 1.955 M 2.28 T -1.047 T 0.055 T 0.149 3.606 18.36 4.59 2.384 1.276 17.161 3.606454 3.606454 0.01 0.022093 0.004766 NA 0.007 NA 17.2830404 60 16 14042077 14042077 A G exonic ERCC4 NA nonsynonymous SNV ERCC4:NM_005236:exon11:c.A2624G:p.E875G exonic ENSG00000175595 NA nonsynonymous SNV ENSG00000175595:ENST00000311895:exon11:c.A2624G:p.E875G Score=289;Name=lod=20 NA 16p13.12 NA NA NA NA rs1800124 0.01 0.01 0.008 0.00579073 0.0199 NA 0.0043 0.0008 0.0051 0.02 NA 0.01 0.002 0.0131 0.02 0 D 0.937 P 0.585 P 0.000 D 1.000 D 2.715 M 2.44 T -1.045 T 0.050 T 0.252 4.589 25 6.16 2.367 8.711 15.987 4.588915 4.588915 0 0.017442 0.004324 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116989.3;CLNDSDB=.;CLNDSDBID=. 17.2828914 61 16 8906914 8906914 A C exonic PMM2 NA nonsynonymous SNV PMM2:NM_000303:exon7:c.A590C:p.E197A exonic ENSG00000140650 NA nonsynonymous SNV ENSG00000140650:ENST00000569958:exon4:c.A317C:p.E106A,ENSG00000140650:ENST00000537352:exon5:c.A215C:p.E72A,ENSG00000140650:ENST00000539622:exon6:c.A341C:p.E114A,ENSG00000140650:ENST00000268261:exon7:c.A590C:p.E197A,ENSG00000140650:ENST00000566983:exon7:c.A509C:p.E170A Score=295;Name=lod=21 NA 16p13.2 NA NA NA NA rs34258285 0.01 0.01 0.006 0.00898562 0.0249 NA 0.0216 0.0015 0.0031 0.02 NA 0.03 NA 0.0193 0.03 0.47 T 0.018 B 0.024 B 0.000 D 1.000 D 1.645 L -4.95 D 0.363 D 0.691 D 0.505 1.189 9.835 4.89 1.839 2.489 10.262 1.189414 NA 0.11 0.025465 0.004779 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078593.1;CLNDSDB=.;CLNDSDBID=. 17.2636684 62 12 51208122 51208122 C G exonic ATF1 NA nonsynonymous SNV ATF1:NM_005171:exon6:c.C571G:p.P191A exonic ENSG00000123268 NA nonsynonymous SNV ENSG00000123268:ENST00000539132:exon5:c.C166G:p.P56A,ENSG00000123268:ENST00000262053:exon6:c.C571G:p.P191A,ENSG00000123268:ENST00000552487:exon6:c.C571G:p.P191A Score=487;Name=lod=127 NA 12q13.12 NA NA NA NA rs2230674 0.01 0.01 0.007 0.0091853 0.0258 NA 0.0187 NA 0.0072 0.03 NA 0.02 NA 0.025 0.031 0.03 D 0.999 D 0.994 D 0.000 D 1.000 D 2.175 M 0.21 T -0.359 T 0.214 T 0.227 2.77 15.22 4.79 2.375 4.463 18.211 2.770176 2.770176 0.03 0.030814 0.006355 NA 0.007 NA 17.2517194 63 X 2835863 2835863 G T exonic ARSD NA nonsynonymous SNV ARSD:NM_001669:exon5:c.C845A:p.A282D exonic ENSG00000006756 NA nonsynonymous SNV ENSG00000006756:ENST00000381154:exon5:c.C845A:p.A282D Score=329;Name=lod=29 NA Xp22.33 NA NA NA NA rs78034736 0.08 0.08 NA NA NA NA NA NA NA 0.07 0.04 0.09 0.12 0.1017 0.12 0 D 1.0 D 0.993 D 0.001 U 0.000 P 4.72 H -3.86 D -0.813 T 0.163 T 0.757 2.89 15.63 3.36 1.338 6.148 14.320 2.889517 2.889517 0 NA NA ID=COSM1319458;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000073163.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 17.2316334 64 1 94473846 94473846 G A exonic ABCA4 NA nonsynonymous SNV ABCA4:NM_000350:exon42:c.C5843T:p.P1948L exonic ENSG00000198691 NA nonsynonymous SNV ENSG00000198691:ENST00000535881:exon5:c.C200T:p.P67L,ENSG00000198691:ENST00000536513:exon7:c.C653T:p.P218L,ENSG00000198691:ENST00000370225:exon42:c.C5843T:p.P1948L Score=389;Name=lod=51 NA 1p22.1 NA NA NA NA rs56142141 0.02 0.02 0.007 0.0165735 0.0467 0.001 0.0346 0.0053 0.0041 0.03 NA 0.02 0.0041 0.0306 0.037 0.05 D 0.01 B 0.009 B 0.566 N 1.000 D 1.19 L -4.04 D 0.044 D 0.764 D 0.172 2.787 15.28 5.35 2.941 2.654 19.614 2.787396 2.787396 0.1 0.037442 0.009759 NA NA CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085768.2;CLNDSDB=.;CLNDSDBID=. 17.2185914 65 10 101829514 101829514 C T exonic CPN1 NA nonsynonymous SNV CPN1:NM_001308:exon3:c.G533A:p.G178D exonic ENSG00000120054 NA nonsynonymous SNV ENSG00000120054:ENST00000370418:exon3:c.G533A:p.G178D Score=552;Name=lod=233 NA 10q24.2 Score=826;Name=V$CMYB_01 NA NA NA rs61751507 0.03 0.03 0.029 0.0265575 0.0437 0.0248 0.0634 0.0023 0.0174 0.04 0.03 0.06 0.002 0.0418 0.06 0.2 T 0.863 P 0.764 P 0.000 D 1.000 D 2.075 M 2.58 T -1.190 T 0.010 T 0.543 2.176 13.23 4.25 1.316 6.045 16.175 2.175745 2.175745 0.02 0.048023 0.010894 NA 0.022 CLINSIG=pathogenic;CLNDBN=Anaphylotoxin_inactivator_deficiency;CLNREVSTAT=single;CLNACC=RCV000007002.1;CLNDSDB=MedGen:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0398782:212070:124493003:234627009 17.1998104 66 1 38397423 38397423 C G intronic INPP5B NA NA NA exonic ENSG00000204084 NA nonsynonymous SNV ENSG00000204084:ENST00000373021:exon6:c.G694C:p.G232R,ENSG00000204084:ENST00000373026:exon6:c.G694C:p.G232R,ENSG00000204084:ENST00000373023:exon7:c.G694C:p.G232R Score=403;Name=lod=58 NA 1p34.3 Score=881;Name=V$AP2_Q6 Name=TAF1,E2F6_(H-50),ETS1,SP2_(SC-643),HMGN3,GABP,Pol2,YY1,Pol2(phosphoS2),Egr-1,HA-E2F1,YY1_(C-20),Pol2-4H8,USF1_(SC-8983),CCNT2,ELF1_(SC-631),IRF3,USF-1,CHD2_(N-1250) Name=148 NA rs199551269 NA NA NA 0.000599042 0.002 NA 0.0014 NA NA NA NA NA NA 0.007 NA 0 D 0.992 D 0.938 D 0.081 N 1.000 D . . -0.42 T 0.116 D 0.865 D 0.454 1.88 12.25 2.97 0.714 0.207 10.143 1.880272 1.880272 0 NA NA NA NA NA 17.1576667 67 6 100957344 100957344 T C exonic ASCC3 NA nonsynonymous SNV ASCC3:NM_006828:exon42:c.A6527G:p.Y2176C exonic ENSG00000112249 NA nonsynonymous SNV ENSG00000112249:ENST00000369162:exon42:c.A6527G:p.Y2176C Score=620;Name=lod=442 Name=Economic and political preferences (immigration/crime) 6q16.3 Score=862;Name=V$OCT1_06 Name=ERalpha_a Name=7 NA rs240768 0.11 0.11 0.113 0.136382 0.0517 0.1607 0.1138 0.23 0.0879 0.05 0.13 0.12 0.18 0.082 0.2 0.04 D 0.538 P 0.591 P 0.008 N 0.000 P 1.845 L 0.2 T -0.741 T 0.172 T 0.123 2.634 14.77 4.84 1.057 3.713 11.233 2.634304 2.634304 0.14 0.046279 0.195188 NA 0.159 NA 17.1533544 68 5 70798541 70798541 A G exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon15:c.A2164G:p.K722E exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon15:c.A2164G:p.K722E Score=393;Name=lod=53 NA 5q13.2 NA NA NA NA rs36009281 0.03 0.03 0.029 0.0325479 0.0885 NA 0.0432 0.003 0.0409 0.07 NA 0.04 0.0041 0.0561 0.084 0.02 D 0.998 D 0.994 D 0.000 D 1.000 D 1.995 M 2.7 T -1.233 T 0.006 T 0.328 2.981 15.94 4.7 2.109 1.185 10.729 2.98056 2.98056 0 0.083456 0.015046 NA 0.029 NA 17.1052774 69 X 135956467 135956467 C T exonic RBMX NA nonsynonymous SNV RBMX:NM_002139:exon9:c.G1010A:p.S337N exonic ENSG00000147274 NA nonsynonymous SNV ENSG00000147274:ENST00000565438:exon7:c.G626A:p.S209N,ENSG00000147274:ENST00000570135:exon8:c.G605A:p.S202N,ENSG00000147274:ENST00000320676:exon9:c.G1010A:p.S337N Score=861;Name=lod=4226 NA Xq26.3 Score=1000;Name=V$NKX25_01 Name=Pol2-4H8 NA NA rs35899675 NA NA 0.17806 NA NA NA NA NA NA NA NA NA NA 0.2332 0.043 0.13 T 0.981 D 0.954 D 0.000 U 0.000 P 1.355 L -1.08 T 0.014 D 0.537 D 0.085 2.524 14.4 5.4 2.380 4.933 18.431 2.523817 2.523817 0.28 NA NA ID=COSM292203;OCCURENCE=1(liver),1(large_intestine) 0.058 NA 17.1001334 69 6 32024395 32024395 C T exonic TNXB NA nonsynonymous SNV TNXB:NM_019105:exon23:c.G8111A:p.R2704H exonic ENSG00000168477 NA nonsynonymous SNV ENSG00000168477:ENST00000375244:exon23:c.G8111A:p.R2704H,ENSG00000168477:ENST00000375247:exon23:c.G8111A:p.R2704H Score=304;Name=lod=23 NA 6p21.33 Score=776;Name=V$HEN1_01 NA NA NA rs10947230 0.12 0.12 0.085 0.105431 0.0934 0.0823 0.0749 0.202 0.0327 0.1 0.1 0.1 0.21 0.0785 0.21 0.03 D 1.0 D 0.998 D 0.000 D 0.000 P 3.595 H 3.51 T -0.946 T 0.064 T 0.195 2.865 15.54 4.61 2.099 2.361 14.409 2.864793 2.864793 0 0.061982 0.157831 NA 0.087 NA 17.0994514 70 X 135956408 135956408 A G exonic RBMX NA nonsynonymous SNV RBMX:NM_002139:exon9:c.T1069C:p.Y357H exonic ENSG00000147274 NA nonsynonymous SNV ENSG00000147274:ENST00000565438:exon7:c.T685C:p.Y229H,ENSG00000147274:ENST00000570135:exon8:c.T664C:p.Y222H,ENSG00000147274:ENST00000320676:exon9:c.T1069C:p.Y357H Score=861;Name=lod=4226 NA Xq26.3 Score=895;Name=V$SPZ1_01 Name=USF-1,Pol2-4H8 NA NA rs76876438 NA NA 0.15739 NA NA NA NA NA NA NA NA NA NA 0.2433 0.022 0.08 T 0.995 D 0.969 D 0.000 U 0.000 P 1.7 L -1.1 T 0.188 D 0.557 D 0.735 1.938 12.44 5.66 1.900 9.184 14.898 1.937872 1.937872 0.04 NA NA NA 0.036 NA 17.0900334 71 22 29885016 29885016 G A exonic NEFH NA nonsynonymous SNV NEFH:NM_021076:exon4:c.G1387A:p.E463K exonic ENSG00000100285 NA nonsynonymous SNV ENSG00000100285:ENST00000310624:exon4:c.G1387A:p.E463K Score=517;Name=lod=169 NA 22q12.2 NA NA NA NA rs59371099 0.04 0.04 0.031 0.029353 0.0855 NA 0.0519 0.0053 0.0184 0.08 NA 0.05 0.01 0.0687 0.098 0 D 1.0 D 0.984 D 0.000 D 0.000 P 1.61 L -1.77 D -0.521 T 0.062 T 0.272 4.579 24.9 5.79 2.746 6.354 20.031 4.578565 4.578565 0.01 0.09814 0.01566 NA 0.036 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057181.1;CLNDSDB=.;CLNDSDBID=. 17.0809934 72 9 131483551 131483551 T A exonic ZDHHC12 NA nonsynonymous SNV ZDHHC12:NM_032799:exon5:c.A713T:p.N238I exonic ENSG00000160446 NA nonsynonymous SNV ENSG00000160446:ENST00000372663:exon5:c.A713T:p.N238I,ENSG00000160446:ENST00000372667:exon5:c.A755T:p.N252I Score=506;Name=lod=152 NA 9q34.11 NA NA NA NA rs11539209 0.05 0.05 0.041 0.0561102 0.0706 0.0546 0.0519 0.0159 0.1002 0.06 0.04 0.05 0.03 0.1147 0.077 0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.16 M 0.24 T -0.755 T 0.042 T 0.379 4.474 23.9 4.94 1.848 7.416 12.542 4.473739 4.473739 0 0.077201 0.019143 NA 0.036 NA 17.0708324 73 8 101719004 101719004 G A exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon11:c.C1477T:p.R493C exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000517990:exon1:c.C4T:p.R2C,ENSG00000070756:ENST00000522658:exon2:c.C118T:p.R40C,ENSG00000070756:ENST00000318607:exon11:c.C1477T:p.R493C,ENSG00000070756:ENST00000519004:exon12:c.C1342T:p.R448C,ENSG00000070756:ENST00000522387:exon12:c.C1381T:p.R461C Score=624;Name=lod=459 NA 8q22.3 Score=824;Name=V$AP4_01 Name=CTCF_(SC-5916) Name=2 NA rs62513924 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3078 NA 0.03 D 0.452 B 0.302 B 0.000 D 1.000 D 1.565 L 2.5 T -0.838 T 0.165 T 0.955 3.729 18.94 5.3 2.658 7.248 19.321 3.729404 3.729404 0.02 NA NA NA NA NA 17.0255334 74 13 39422624 39422624 C T exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon8:c.C6196T:p.R2066C exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon8:c.C6196T:p.R2066C Score=525;Name=lod=182 NA 13q13.3 NA Name=FOXA1_(C-20) NA NA rs9548505 0.09 0.09 0.076 0.109625 0.0895 0.001 0.2522 0.1445 0.0941 0.07 0.0017 0.2 0.12 0.1224 0.2 0.01 D 0.999 D 0.927 D 0.000 D 0.000 P 2.79 M 1.66 T -1.204 T 0.000 T 0.561 4.615 25.2 5.66 2.690 4.804 19.754 4.614809 4.614809 0.01 0.10907 0.141625 NA 0.087 NA 17.0123634 75 17 526907 526907 G T exonic VPS53 NA nonsynonymous SNV VPS53:NM_018289:exon10:c.C895A:p.L299I,VPS53:NM_001128159:exon11:c.C982A:p.L328I exonic ENSG00000141252 NA nonsynonymous SNV ENSG00000141252:ENST00000570650:exon3:c.C295A:p.L99I,ENSG00000141252:ENST00000291074:exon10:c.C895A:p.L299I,ENSG00000141252:ENST00000389040:exon10:c.C838A:p.L280I,ENSG00000141252:ENST00000437048:exon11:c.C982A:p.L328I,ENSG00000141252:ENST00000571805:exon11:c.C982A:p.L328I,ENSG00000141252:ENST00000446250:exon12:c.C388A:p.L130I Score=478;Name=lod=117 NA 17p13.3 Score=880;Name=V$HSF1_01 NA NA NA rs16954056 0.14 0.14 0.132 0.0942492 0.1093 0.1855 0.0821 0.0582 0.0419 0.11 0.23 0.12 0.08 0.1116 0.23 0.01 D 0.999 D 0.973 D 0.000 D 0.000 P 2.31 M 1.02 T -1.214 T 0.000 T 0.549 4.979 29.1 5.7 2.683 9.476 18.829 4.978662 4.978662 0 0.107674 0.066046 NA 0.08 NA 17.0047594 75 11 77583266 77583266 G A exonic AAMDC NA nonsynonymous SNV AAMDC:NM_024684:exon4:c.G274A:p.V92M exonic ENSG00000087884 NA nonsynonymous SNV ENSG00000087884:ENST00000393427:exon4:c.G274A:p.V92M,ENSG00000087884:ENST00000525034:exon4:c.G331A:p.V111M,ENSG00000087884:ENST00000525409:exon4:c.G178A:p.V60M,ENSG00000087884:ENST00000526415:exon5:c.G274A:p.V92M,ENSG00000087884:ENST00000533193:exon5:c.G412A:p.V138M Score=417;Name=lod=66 NA 11q14.1 Score=919;Name=V$CDPCR3HD_01 NA NA NA rs2186564 0.15 0.15 0.142 0.140974 0.1004 0.1766 0.1888 0.1286 0.1288 0.1 0.2 0.15 0.15 0.1335 0.2 0.06 T 0.998 D 0.953 D 0.000 D 0.000 P 2.28 M -1.51 D -1.099 T 0.002 T 0.524 4.245 22.1 5.28 2.746 6.493 14.341 4.244571 4.244571 0.01 0.096342 0.119545 ID=COSM147295;OCCURENCE=1(stomach) 0.152 NA 17.0030914 75 12 52713088 52713088 G A exonic KRT83 NA nonsynonymous SNV KRT83:NM_002282:exon2:c.C445T:p.R149C exonic ENSG00000170523 NA nonsynonymous SNV ENSG00000170523:ENST00000293670:exon2:c.C445T:p.R149C Score=633;Name=lod=498 NA 12q13.13 NA Name=CTCF_(SC-5916),SMC3_(ab9263),CTCF,Rad21 Name=17 NA rs2857663 0.1 0.1 0.113 0.127796 0.1034 0.0804 0.0576 0.1589 0.2096 0.1 0.07 0.08 0.16 0.119 0.16 0.01 D 0.067 B 0.077 B 0.048 U 1.000 D 3.115 M -2.54 D -0.757 T 0.010 T 0.306 3.343 17.25 4.39 2.157 9.621 12.453 3.342823 3.342823 0.01 0.111977 0.146164 NA 0.203 NA 16.9989564 75 11 5510598 5510598 A T exonic OR52D1 NA nonsynonymous SNV OR52D1:NM_001005163:exon1:c.A662T:p.Y221F exonic ENSG00000181609 NA nonsynonymous SNV ENSG00000181609:ENST00000322641:exon1:c.A662T:p.Y221F Score=346;Name=lod=34 NA 11p15.4 NA Name=Pol2(b) NA NA rs7950082 0.08 0.08 0.078 0.0754792 0.1163 0.003 0.0735 0.084 0.0982 0.13 0.01 0.07 0.11 0.1013 0.13 0 D 0.999 D 0.98 D 0.000 D 0.000 P 4.35 H 6.99 T -1.148 T 0.000 T 0.244 3.591 18.29 5.58 2.343 8.853 14.723 3.590815 3.590815 0 0.120084 0.095184 NA 0.094 NA 16.9956494 76 2 152500449 152500449 C G exonic NEB NA nonsynonymous SNV NEB:NM_001164507:exon57:c.G7839C:p.K2613N,NEB:NM_001164508:exon57:c.G7839C:p.K2613N,NEB:NM_001271208:exon57:c.G7839C:p.K2613N,NEB:NM_004543:exon57:c.G7839C:p.K2613N exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000603639:exon55:c.G7839C:p.K2613N,ENSG00000183091:ENST00000604864:exon55:c.G7839C:p.K2613N,ENSG00000183091:ENST00000172853:exon57:c.G7839C:p.K2613N,ENSG00000183091:ENST00000397345:exon57:c.G7839C:p.K2613N,ENSG00000183091:ENST00000409198:exon57:c.G7839C:p.K2613N,ENSG00000183091:ENST00000427231:exon57:c.G7839C:p.K2613N Score=574;Name=lod=286 NA 2q23.3 Score=876;Name=V$NF1_Q6 NA NA NA rs13013209 0.3 0.3 0.28 0.293331 0.4662 0.2609 0.4438 0.031 0.3967 0.46 0.27 0.39 0.03 0.415 0.47 0.02 D 0.999 D 0.998 D 0.000 D 0.000 P 2.98 M 1.13 T -0.977 T 0.000 T 0.227 4.324 22.7 5.77 2.729 4.897 19.994 4.323892 4.323892 0 0.47369 0.098309 NA 0.29 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081143.3;CLNDSDB=.;CLNDSDBID=. 16.9784434 76 16 58768129 58768129 C A exonic GOT2 NA nonsynonymous SNV GOT2:NM_002080:exon1:c.G4T:p.A2S exonic ENSG00000125166 NA nonsynonymous SNV ENSG00000125166:ENST00000245206:exon1:c.G4T:p.A2S,ENSG00000125166:ENST00000434819:exon1:c.G4T:p.A2S,ENSG00000125166:ENST00000568368:exon1:c.G4T:p.A2S Score=429;Name=lod=74 NA 16q21 Score=802;Name=V$YY1_02 Name=NRSF,PU.1,Pol2,TCF4,Pol2(phosphoS2),TAF1,POU2F2,E2F4,HMGN3,GABP,CTCF,GTF2F1_(RAP-74),Oct-2,Ini1,Pol2-4H8,ZNF263,TBP,c-Myc,NFKB,HEY1 NA NA rs11558171 0.05 0.05 0.046 0.0433307 0.1203 NA 0.0432 0.0045 0.0613 0.12 NA 0.05 0.01 0.1218 0.12 . . 0.984 D 0.935 D 0.000 D 0.954 D 1.1 L 2.14 T -1.175 T 0.002 T 0.23 3.449 17.68 4.94 2.558 3.168 13.550 3.449346 3.449346 0.08 0.112958 0.023245 ID=COSM435472;OCCURENCE=1(breast) 0.022 NA 16.9782754 77 8 53852871 53852871 A T exonic NPBWR1 NA nonsynonymous SNV NPBWR1:NM_005285:exon1:c.A404T:p.Y135F exonic ENSG00000183729 NA nonsynonymous SNV ENSG00000183729:ENST00000331251:exon1:c.A404T:p.Y135F Score=558;Name=lod=247 NA 8q11.23 NA NA NA NA rs33977775 0.09 0.09 0.102 0.0870607 0.1302 0.12 0.085 0.0038 0.1227 0.13 0.12 0.09 0.01 0.1146 0.13 0 D 1.0 D 0.999 D 0.000 D 0.000 P 2.425 M -2.2 D -0.710 T 0.039 T 0.243 4.817 27.3 5.06 2.120 6.875 14.971 4.816662 4.816662 0 0.118277 0.029759 NA 0.014 NA 16.9702564 77 16 56602798 56602798 G A exonic MT4 NA nonsynonymous SNV MT4:NM_032935:exon3:c.G143A:p.G48D exonic ENSG00000102891 NA nonsynonymous SNV ENSG00000102891:ENST00000219162:exon3:c.G143A:p.G48D Score=428;Name=lod=73 NA 16q12.2 Score=993;Name=V$AP2ALPHA_01 NA NA NA rs11643815 0.06 0.06 0.04 0.0563099 0.1252 0.0079 0.098 0.0076 0.0716 0.12 0.0017 0.07 0.01 0.1108 0.13 0 D 1.0 D 1.0 D 0.000 D 1.000 D . . 2.65 T -1.273 T 0.001 T 0.356 3.472 17.77 5.92 2.810 6.701 15.821 3.471985 3.471985 0 0.132007 0.029197 NA 0.029 NA 16.9653264 78 17 20108184 20108184 C G exonic SPECC1 NA nonsynonymous SNV SPECC1:NM_001033554:exon2:c.C579G:p.S193R,SPECC1:NM_001033555:exon2:c.C579G:p.S193R,SPECC1:NM_001243438:exon2:c.C579G:p.S193R,SPECC1:NM_001033553:exon4:c.C822G:p.S274R,SPECC1:NM_001243439:exon4:c.C822G:p.S274R,SPECC1:NM_152904:exon4:c.C822G:p.S274R exonic ENSG00000128487 NA nonsynonymous SNV ENSG00000128487:ENST00000395522:exon2:c.C579G:p.S193R,ENSG00000128487:ENST00000395525:exon2:c.C579G:p.S193R,ENSG00000128487:ENST00000395530:exon2:c.C579G:p.S193R,ENSG00000128487:ENST00000261503:exon4:c.C822G:p.S274R,ENSG00000128487:ENST00000395527:exon4:c.C822G:p.S274R,ENSG00000128487:ENST00000395529:exon4:c.C822G:p.S274R Score=405;Name=lod=59 NA 17p11.2 Score=936;Name=V$LMO2COM_01 NA NA NA rs9908032 0.1 0.1 0.097 0.113618 0.1223 0.0942 0.1455 0.093 0.1299 0.13 0.08 0.12 0.09 0.1182 0.13 0.04 D 1.0 D 0.999 D 0.000 D 0.000 P 2.005 M 2.77 T -0.961 T 0.010 T 0.145 4.032 20.7 5.38 2.698 3.068 17.005 4.031537 4.031537 0.13 0.134186 0.114843 NA 0.152 NA 16.9586474 79 8 101718968 101718968 C T exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon11:c.G1513A:p.V505I exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000517990:exon1:c.G40A:p.V14I,ENSG00000070756:ENST00000522658:exon2:c.G154A:p.V52I,ENSG00000070756:ENST00000318607:exon11:c.G1513A:p.V505I,ENSG00000070756:ENST00000519004:exon12:c.G1378A:p.V460I,ENSG00000070756:ENST00000522387:exon12:c.G1417A:p.V473I Score=624;Name=lod=459 NA 8q22.3 NA Name=CTCF_(SC-5916) Name=2 Score=67;Name=2348421_0_+_67 rs62513922 NA NA 0.27 NA NA NA NA NA NA NA NA NA NA 0.4114 NA 0.4 T 0.003 B 0.008 B 0.000 D 1.000 D 1.955 M 0.95 T -0.998 T 0.128 T 0.534 4.874 27.9 5.4 2.706 7.233 19.528 4.873827 4.873827 0.31 NA NA NA NA NA 16.9219334 79 3 63967900 63967900 A G exonic ATXN7 NA nonsynonymous SNV ATXN7:NM_001128149:exon3:c.A356G:p.K119R,ATXN7:NM_001177387:exon6:c.A791G:p.K264R,ATXN7:NM_000333:exon7:c.A791G:p.K264R exonic ENSG00000163635 NA nonsynonymous SNV ENSG00000163635:ENST00000484332:exon3:c.A356G:p.K119R,ENSG00000163635:ENST00000538065:exon5:c.A791G:p.K264R,ENSG00000163635:ENST00000487717:exon6:c.A791G:p.K264R,ENSG00000163635:ENST00000295900:exon7:c.A791G:p.K264R,ENSG00000163635:ENST00000398590:exon7:c.A791G:p.K264R Score=582;Name=lod=310 NA 3p14.1 Score=896;Name=V$YY1_01 Name=c-Myc,PU.1 NA NA rs1053338 0.13 0.13 0.104 0.114617 0.1471 0.1478 0.1916 0.0121 0.1309 0.15 0.18 0.17 0.01 0.1344 0.18 0.11 T 0.997 D 0.985 D 0.000 D 0.000 P 1.185 L 1.35 T -1.101 T 0.000 T 0.16 3.251 16.9 4.57 1.005 4.062 11.602 3.251328 3.251328 0.03 0.130941 0.035123 NA 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116489.2;CLNDSDB=.;CLNDSDBID=. 16.9208924 80 21 28305212 28305212 C T exonic ADAMTS5 NA nonsynonymous SNV ADAMTS5:NM_007038:exon5:c.G1841A:p.R614H exonic ENSG00000154736 NA nonsynonymous SNV ENSG00000154736:ENST00000284987:exon5:c.G1841A:p.R614H Score=516;Name=lod=167 NA 21q21.3 Score=869;Name=V$YY1_01 NA NA NA rs2830585 0.12 0.12 0.12 0.0988419 0.1799 0.0992 0.1138 0.0484 0.0726 0.18 0.11 0.11 0.05 0.1258 0.18 0 D 1.0 D 0.999 D 0.000 D 0.000 P 2.87 M 0.49 T -1.067 T 0.002 T 0.456 5.474 35 6.03 2.854 7.487 20.567 5.473629 5.473629 NA 0.159535 0.072401 ID=COSM1413521;OCCURENCE=3(large_intestine) 0.188 NA 16.8680984 81 6 154360797 154360797 A G exonic OPRM1 NA nonsynonymous SNV OPRM1:NM_000914:exon1:c.A118G:p.N40D,OPRM1:NM_001008503:exon1:c.A118G:p.N40D,OPRM1:NM_001008504:exon1:c.A118G:p.N40D,OPRM1:NM_001008505:exon1:c.A118G:p.N40D,OPRM1:NM_001145282:exon1:c.A118G:p.N40D,OPRM1:NM_001145283:exon1:c.A118G:p.N40D,OPRM1:NM_001145284:exon1:c.A118G:p.N40D,OPRM1:NM_001145285:exon1:c.A118G:p.N40D,OPRM1:NM_001145286:exon1:c.A118G:p.N40D,OPRM1:NM_001145279:exon3:c.A397G:p.N133D exonic ENSG00000112038 NA nonsynonymous SNV ENSG00000112038:ENST00000229768:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000330432:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000337049:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000360422:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000414028:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000419506:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000428397:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000435918:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000452687:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000519083:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000522739:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000524150:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000524163:exon1:c.A118G:p.N40D,ENSG00000112038:ENST00000520282:exon2:c.A262G:p.N88D,ENSG00000112038:ENST00000434900:exon3:c.A397G:p.N133D Score=431;Name=lod=75 NA 6q25.2 Score=693;Name=V$BRACH_01 Name=CtBP2,NRSF Name=44 NA rs1799971 0.19 0.19 0.172 0.223442 0.162 0.3929 0.2003 0.0091 0.4182 0.16 0.38 0.19 0.01 0.1856 0.38 0.01 D 0.95 P 0.775 P 0.137 N 0.000 P 0 N 2.16 T -0.989 T 0.037 T 0.363 4.356 22.9 5.75 2.200 2.322 15.041 4.355925 4.355925 0.02 0.128792 0.030622 NA 0.094 CLINSIG=unknown;CLNDBN=Opioid_dependence_1;CLNREVSTAT=single;CLNACC=RCV000010146.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864733:610064 16.8569414 82 7 151945007 151945007 C T exonic MLL3 NA nonsynonymous SNV MLL3:NM_170606:exon14:c.G2512A:p.G838S exonic ENSG00000055609 NA nonsynonymous SNV ENSG00000055609:ENST00000262189:exon14:c.G2512A:p.G838S,ENSG00000055609:ENST00000355193:exon14:c.G2512A:p.G838S Score=651;Name=lod=589 NA 7q36.1 Score=766;Name=V$MYOGNF1_01 NA NA NA rs2479172 NA NA 0.581 NA NA NA NA NA NA NA NA NA NA 0.4944 NA 0.43 T 1.0 D 0.999 D 0.000 D 1.000 D 1.04 L -2.3 D -0.835 T 0.230 T 0.622 4.381 23.1 5.67 2.658 7.484 19.769 4.381186 4.381186 0.01 NA NA NA NA NA 16.8389334 83 17 45214604 45214604 A T exonic CDC27 NA nonsynonymous SNV CDC27:NM_001114091:exon14:c.T1845A:p.H615Q,CDC27:NM_001256:exon14:c.T1827A:p.H609Q exonic ENSG00000004897 NA nonsynonymous SNV ENSG00000004897:ENST00000446365:exon13:c.T1644A:p.H548Q,ENSG00000004897:ENST00000066544:exon14:c.T1827A:p.H609Q,ENSG00000004897:ENST00000527547:exon14:c.T1824A:p.H608Q,ENSG00000004897:ENST00000531206:exon14:c.T1845A:p.H615Q Score=658;Name=lod=631 NA 17q21.32 Score=721;Name=V$SRF_01 Name=CTCF,STAT1,TAF7_(SQ-8),CTCFL_(SC-98982),TAF1,GABP,ZBTB33,ZNF274,IRF3,SUZ12,YY1,GCN5,c-Fos,GATA-2,c-Jun,EBF,ZZZ3 Name=148 NA rs75661039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4987 NA 0 D 0.999 D 0.983 D 0.000 D 1.000 D 3.08 M 0.34 T -0.378 T 0.345 T 0.879 4.388 23.2 -1.66 -0.648 0.088 11.920 4.38775 4.38775 0 NA NA NA NA NA 16.8346334 83 1 144994658 144994658 C A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002810:exon1:c.G74T:p.R25L,PDE4DIP:NM_001002812:exon1:c.G74T:p.R25L,PDE4DIP:NM_001198834:exon1:c.G74T:p.R25L,PDE4DIP:NM_014644:exon1:c.G74T:p.R25L,PDE4DIP:NM_001195261:exon2:c.G83T:p.R28L,PDE4DIP:NM_001198832:exon4:c.G272T:p.R91L,PDE4DIP:NM_022359:exon4:c.G485T:p.R162L exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369347:exon1:c.G74T:p.R25L,ENSG00000178104:ENST00000369349:exon1:c.G74T:p.R25L,ENSG00000178104:ENST00000369351:exon1:c.G74T:p.R25L,ENSG00000178104:ENST00000369354:exon1:c.G74T:p.R25L,ENSG00000178104:ENST00000369356:exon1:c.G74T:p.R25L,ENSG00000178104:ENST00000526445:exon1:c.G74T:p.R25L,ENSG00000178104:ENST00000528129:exon2:c.G83T:p.R28L,ENSG00000178104:ENST00000534536:exon2:c.G83T:p.R28L,ENSG00000178104:ENST00000313382:exon4:c.G272T:p.R91L,ENSG00000178104:ENST00000369348:exon4:c.G485T:p.R162L,ENSG00000178104:ENST00000369359:exon4:c.G485T:p.R162L,ENSG00000178104:ENST00000530740:exon4:c.G485T:p.R162L,ENSG00000178104:ENST00000530822:exon4:c.G272T:p.R91L,ENSG00000178104:ENST00000531369:exon4:c.G275T:p.R92L Score=720;Name=lod=1125 NA 1q21.1 NA NA Name=52 NA rs1664022 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 0 D 1.0 D 1.0 D . . 1.000 D 2.945 M 1.47 T -0.625 T 0.209 T 0.997 5.72 36 5.78 2.731 7.708 17.500 5.719624 5.719624 0 NA NA NA 0.5 NA 16.8335334 83 1 144871738 144871738 C A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_014644:exon32:c.G5224T:p.A1742S exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon32:c.G5224T:p.A1742S,ENSG00000178104:ENST00000369356:exon32:c.G5224T:p.A1742S,ENSG00000178104:ENST00000530740:exon34:c.G5479T:p.A1827S,ENSG00000178104:ENST00000369359:exon35:c.G5632T:p.A1878S Score=574;Name=lod=288 NA 1q21.1 Score=881;Name=V$NF1_Q6 Name=PU.1 NA NA rs1698605 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.48 T 0.997 D 0.985 D . . 1.000 D 1.995 M 4.7 T -0.798 T 0.015 T 0.179 5.071 31 5.97 2.834 6.650 17.918 5.071375 5.071375 0.06 NA NA NA 0.442 NA 16.8333334 83 1 144931330 144931330 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.G379A:p.A127T exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon1:c.G379A:p.A127T,ENSG00000178104:ENST00000529945:exon1:c.G379A:p.A127T Score=500;Name=lod=143 NA 1q21.1 NA Name=c-Myc,HA-E2F1,ZNF263 Name=134 NA rs2762745 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.02 D 1.0 D 0.988 D . . 1.000 D 1.87 L 2.56 T -1.152 T 0.064 T 0.303 4.031 20.7 5.3 2.467 6.056 16.437 4.031493 4.031493 0.08 NA NA NA 0.5 NA 16.8333334 83 4 154279631 154279631 A G exonic MND1 NA nonsynonymous SNV MND1:NM_001253861:exon4:c.A133G:p.M45V,MND1:NM_032117:exon4:c.A133G:p.M45V exonic ENSG00000121211 NA nonsynonymous SNV ENSG00000121211:ENST00000504860:exon3:c.A88G:p.M30V,ENSG00000121211:ENST00000240488:exon4:c.A133G:p.M45V,ENSG00000121211:ENST00000508731:exon4:c.A88G:p.M30V,ENSG00000121211:ENST00000509752:exon4:c.A133G:p.M45V Score=603;Name=lod=377 NA 4q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06 T 0.973 D 0.848 P 0.000 D 1.000 D 2.34 M . . -0.224 T 0.395 T 0.896 2.993 15.98 5.7 2.165 7.047 15.959 2.992863 2.992863 0.03 NA NA NA NA NA 16.8333334 83 11 92531088 92531088 T A exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon9:c.T4909A:p.F1637I exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000298047:exon9:c.T4909A:p.F1637I,ENSG00000165323:ENST00000409404:exon9:c.T4909A:p.F1637I,ENSG00000165323:ENST00000525166:exon9:c.T4459A:p.F1487I Score=435;Name=lod=78 NA 11q14.3 Score=836;Name=V$ER_Q6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 0.962 D 0.604 P . . 1.000 D 1.54 L 0.64 T -0.787 T 0.177 T 0.605 3.834 19.47 5.81 2.224 7.975 16.167 3.83398 3.83398 0.01 NA NA NA NA NA 16.8333334 83 16 24834847 24834847 C A exonic TNRC6A NA nonsynonymous SNV TNRC6A:NM_014494:exon25:c.C5608A:p.P1870T exonic ENSG00000090905 NA nonsynonymous SNV ENSG00000090905:ENST00000432286:exon8:c.C1042A:p.P348T,ENSG00000090905:ENST00000450465:exon18:c.C2440A:p.P814T,ENSG00000090905:ENST00000315183:exon24:c.C5461A:p.P1821T,ENSG00000090905:ENST00000395799:exon25:c.C5608A:p.P1870T Score=695;Name=lod=890 NA 16p12.1 Score=745;Name=V$MYOGNF1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 T 0.976 D 0.761 P 0.000 D 1.000 D 0.415 N 2.76 T -0.681 T 0.204 T 0.468 1.806 12 5.64 2.638 3.601 19.710 1.806007 1.806007 0.47 NA NA NA NA NA 16.8333334 83 2 209010521 209010521 G A exonic CRYGB NA nonsynonymous SNV CRYGB:NM_005210:exon2:c.C229T:p.R77C exonic ENSG00000182187 NA nonsynonymous SNV ENSG00000182187:ENST00000260988:exon2:c.C229T:p.R77C Score=464;Name=lod=103 NA 2q34 Score=801;Name=V$TCF11MAFG_01 NA NA NA rs201502749 0.0005 0.0005 NA 0.000199681 NA 0.001 NA NA NA NA 0.0017 NA NA 0.00004222 0.0017 0.04 D 0.777 P 0.343 B 0.000 D 1.000 D 2.71 M -1.05 T -0.125 T 0.427 T 0.413 2.277 13.57 2.74 1.314 1.516 10.103 2.276697 2.276697 0.05 NA NA ID=COSM573104;OCCURENCE=1(lung) NA NA 16.8332912 83 3 54933874 54933874 C T exonic CACNA2D3 NA nonsynonymous SNV CACNA2D3:NM_018398:exon27:c.C2428T:p.R810W exonic ENSG00000157445 NA nonsynonymous SNV ENSG00000157445:ENST00000490478:exon26:c.C2146T:p.R716W,ENSG00000157445:ENST00000288197:exon27:c.C2428T:p.R810W,ENSG00000157445:ENST00000474759:exon27:c.C2428T:p.R810W,ENSG00000157445:ENST00000415676:exon28:c.C2428T:p.R810W Score=537;Name=lod=203 NA 3p14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009301 NA 0.03 D 0.998 D 0.644 P 0.000 D 1.000 D 1.245 L -0.53 T -0.497 T 0.291 T 0.837 4.382 23.2 4.63 2.624 3.589 10.541 4.381507 4.381507 0.02 NA NA NA NA NA 16.8332404 83 1 202126900 202126900 C T exonic PTPN7 NA nonsynonymous SNV PTPN7:NM_080588:exon3:c.G475A:p.A159T,PTPN7:NM_001199797:exon4:c.G580A:p.A194T,PTPN7:NM_002832:exon4:c.G673A:p.A225T exonic ENSG00000143851 NA nonsynonymous SNV ENSG00000143851:ENST00000367279:exon3:c.G475A:p.A159T,ENSG00000143851:ENST00000308986:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000309017:exon4:c.G673A:p.A225T,ENSG00000143851:ENST00000435759:exon4:c.G377A:p.R126H,ENSG00000143851:ENST00000464870:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000467283:exon4:c.G355A:p.A119T,ENSG00000143851:ENST00000476061:exon4:c.G355A:p.A119T,ENSG00000143851:ENST00000477554:exon4:c.G601A:p.A201T,ENSG00000143851:ENST00000486116:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000495688:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000496197:exon4:c.G305A:p.R102H Score=516;Name=lod=167 NA 1q32.1 Score=761;Name=V$P53_01 NA Name=3 NA rs149783764 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 0.11 T 0.983 D 0.713 P 0.000 D 1.000 D 0.945 L 2.76 T -0.603 T 0.237 T 0.549 2.399 13.98 5.18 2.400 1.862 18.677 2.399048 2.399048 0.08 0.000349 0.000227 NA NA NA 16.8305844 83 2 179597590 179597590 T C exonic TTN NA nonsynonymous SNV TTN:NM_133378:exon52:c.A12581G:p.K4194R,TTN:NM_001256850:exon53:c.A15362G:p.K5121R,TTN:NM_001267550:exon55:c.A16313G:p.K5438R exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342992:exon52:c.A12581G:p.K4194R,ENSG00000155657:ENST00000591111:exon53:c.A15362G:p.K5121R,ENSG00000155657:ENST00000589042:exon55:c.A16313G:p.K5438R Score=463;Name=lod=102 NA 2q31.2 Score=777;Name=V$HEN1_01 NA NA NA rs190636272 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0008 0.0013 0 D 0.98 D 0.819 P . . 1.000 D 0.3 N -0.26 T -0.428 T 0.279 T 0.468 2.052 12.82 6.17 2.371 6.036 16.822 2.051998 2.051998 NA 0.000964 0.000254 NA NA CLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039885.1;CLNDSDB=.;CLNDSDBID=. 16.8305694 84 4 57829669 57829669 G A exonic NOA1 NA nonsynonymous SNV NOA1:NM_032313:exon7:c.C2044T:p.P682S exonic ENSG00000084092 NA nonsynonymous SNV ENSG00000084092:ENST00000264230:exon7:c.C2044T:p.P682S Score=439;Name=lod=81 NA 4q12 NA NA NA NA rs61747375 0.0027 0.0027 NA 0.00379393 0.004 NA 0.0043 NA 0.0123 0.01 NA 0.01 NA 0.0031 0.011 0.01 D 0.997 D 0.861 P 0.000 D 1.000 D 2.585 M 1.1 T -0.540 T 0.211 T 0.246 3.875 19.69 5.41 2.681 5.124 19.159 3.875361 3.875361 0 0.002326 0.001135 NA 0.007 NA 16.8239074 84 1 151374025 151374025 T C exonic PSMB4 NA nonsynonymous SNV PSMB4:NM_002796:exon6:c.T701C:p.I234T exonic ENSG00000159377 NA nonsynonymous SNV ENSG00000159377:ENST00000290541:exon6:c.T701C:p.I234T Score=431;Name=lod=75 NA 1q21.3 Score=822;Name=V$IRF7_01 NA Name=28 NA rs4603 0.2 0.2 0.18 0.192093 0.1461 0.3165 0.3026 0.0666 0.2025 0.15 0.35 0.28 0.05 0.1937 0.35 0 D 0.836 P 0.776 P 0.000 D 0.000 P 2.845 M 1.74 T -0.840 T 0.120 T 0.29 3.972 20.3 5.99 2.291 7.791 13.867 3.972373 3.972373 0 0.172791 0.09419 NA 0.152 NA 16.8207424 84 15 41679685 41679685 G C exonic NDUFAF1 NA nonsynonymous SNV NDUFAF1:NM_016013:exon5:c.C941G:p.A314G exonic ENSG00000137806 NA nonsynonymous SNV ENSG00000137806:ENST00000260361:exon5:c.C941G:p.A314G Score=539;Name=lod=207 NA 15q15.1 Score=895;Name=V$PAX4_02 NA NA NA rs12900702 0.09 0.09 0.068 0.0720847 0.1849 NA 0.111 0.0121 0.0838 0.19 NA 0.13 0.01 0.1382 0.19 0.01 D 0.952 P 0.683 P 0.000 D 0.000 P 2.18 M -0.14 T -1.176 T 0.001 T 0.174 5.19 32 5.58 2.644 8.859 19.592 5.189559 5.189559 0.01 0.19 0.036995 NA 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117704.2;CLNDSDB=.;CLNDSDBID=. 16.8202334 85 17 17697404 17697404 C T exonic RAI1 NA nonsynonymous SNV RAI1:NM_030665:exon3:c.C1142T:p.A381V exonic ENSG00000108557 NA nonsynonymous SNV ENSG00000108557:ENST00000261641:exon1:c.C1142T:p.A381V,ENSG00000108557:ENST00000395774:exon2:c.C1142T:p.A381V,ENSG00000108557:ENST00000353383:exon3:c.C1142T:p.A381V Score=422;Name=lod=69 NA 17p11.2 NA NA NA NA rs113208290 0.01 0.01 NA 0.00299521 0.0109 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0036 0.011 0.04 D 0.976 D 0.696 P 0.005 N 1.000 D 1.935 M 1.44 T -0.975 T 0.106 T 0.67 3.01 16.04 5.55 2.621 3.141 19.494 3.010211 3.010211 0.01 0.004651 0.001589 NA 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082255.3;CLNDSDB=.;CLNDSDBID=. 16.8141824 85 2 170029657 170029657 C T exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon57:c.G11092A:p.V3698M exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon57:c.G11092A:p.V3698M Score=429;Name=lod=74 NA 2q31.1 Score=830;Name=V$CHOP_01 NA NA NA rs34355135 0.0041 0.0041 0.005 0.00379393 0.006 NA 0.0115 NA 0.0051 0.01 NA 0.01 0.0041 0.0055 0.01 0.23 T 0.607 P 0.145 B 0.000 N 1.000 D 3.27 M -3.93 D 0.063 D 0.724 D 0.149 1.279 10.18 -0.879 -0.167 1.262 3.473 1.279458 1.279458 0.04 0.007791 0.001589 NA NA CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000117500.1;CLNDSDB=.;CLNDSDBID=. 16.8140424 86 3 167320010 167320010 T C exonic WDR49 NA nonsynonymous SNV WDR49:NM_178824:exon3:c.A157G:p.K53E exonic ENSG00000174776 NA nonsynonymous SNV ENSG00000174776:ENST00000308378:exon3:c.A157G:p.K53E,ENSG00000174776:ENST00000453925:exon3:c.A316G:p.K106E,ENSG00000174776:ENST00000479765:exon7:c.A1180G:p.K394E Score=532;Name=lod=193 NA 3q26.1 NA Name=NANOG_(SC-33759),SP1 Name=3 NA rs75218075 0.07 0.07 0.07 0.0726837 0.005 0.2034 0.0101 0.087 0.0327 0.01 0.19 0.01 0.08 0.0228 0.19 0.17 T 0.997 D 0.905 P 0.001 D 1.000 D 1.66 L 0.23 T -1.063 T 0.001 T 0.496 4.219 21.9 5.4 2.038 2.996 14.431 4.219294 4.219294 0 0.001977 0.063323 NA 0.051 NA 16.8035564 86 20 25259006 25259006 G T exonic PYGB NA nonsynonymous SNV PYGB:NM_002862:exon8:c.G907T:p.A303S exonic ENSG00000100994 NA nonsynonymous SNV ENSG00000100994:ENST00000216962:exon8:c.G907T:p.A303S Score=630;Name=lod=484 NA 20p11.21 Score=797;Name=V$PAX5_02 NA NA NA rs2228976 0.2 0.2 0.195 0.16234 0.1849 0.3512 0.1297 0.053 0.1155 0.19 0.35 0.16 0.06 0.1666 0.35 0.06 T 0.971 D 0.941 D 0.000 D 0.000 P 3.005 M -4.02 D -1.863 T 0.000 T 0.261 5.036 29.8 3.61 2.027 9.378 15.424 5.036398 5.036398 0.01 0.185698 0.079891 ID=COSM149154;OCCURENCE=1(breast),1(stomach) 0.094 NA 16.7961354 86 12 53216989 53216989 G A exonic KRT79 NA nonsynonymous SNV KRT79:NM_175834:exon7:c.C1178T:p.A393V exonic ENSG00000185640 NA nonsynonymous SNV ENSG00000185640:ENST00000330553:exon7:c.C1178T:p.A393V Score=289;Name=lod=20 NA 12q13.13 NA NA NA NA rs17688627 0.1 0.1 0.09 0.0720847 0.2147 NA 0.1268 0.0053 0.0511 0.22 NA 0.14 0.01 0.1326 0.22 0 D 0.997 D 0.937 D 0.001 D 0.025 P 2.455 M -2.38 D -1.167 T 0.002 T 0.063 2.755 15.17 3.8 2.412 7.742 11.559 2.755149 2.755149 0 0.190698 0.034271 NA 0.036 NA 16.7953354 87 3 132218075 132218075 C T exonic DNAJC13 NA nonsynonymous SNV DNAJC13:NM_015268:exon37:c.C4262T:p.A1421V exonic ENSG00000138246 NA nonsynonymous SNV ENSG00000138246:ENST00000260818:exon37:c.C4262T:p.A1421V Score=514;Name=lod=164 NA 3q22.1 NA NA NA NA rs61748102 0.02 0.02 0.015 0.0127796 0.0209 NA 0.0101 0.0242 0.0041 0.02 NA 0.02 0.03 0.0177 0.033 0.01 D 0.998 D 0.803 P 0.000 D 1.000 D 2.56 M 0.65 T -0.635 T 0.127 T 0.602 5.361 34 5.42 2.706 7.535 19.579 5.360586 5.360586 0 0.018837 0.02542 NA 0.043 NA 16.7758964 88 11 124180359 124180359 A C exonic OR8D1 NA nonsynonymous SNV OR8D1:NM_001002917:exon1:c.T304G:p.F102V exonic ENSG00000196341 NA nonsynonymous SNV ENSG00000196341:ENST00000357821:exon1:c.T304G:p.F102V Score=371;Name=lod=43 NA 11q24.2 NA NA Name=5 NA rs2510433 0.01 0.01 0.008 0.0105831 0.0219 NA 0.0231 0.0008 0.0143 0.02 NA 0.04 NA 0.017 0.04 0.01 D 0.991 D 0.881 P 0.051 U 0.855 D 3.005 M 7.56 T -0.816 T 0.001 T 0.161 1.692 11.62 4.29 1.813 4.020 8.849 1.69203 1.69203 0 0.025006 0.004316 NA 0.036 NA 16.7694274 89 4 2906707 2906707 G T exonic ADD1 NA nonsynonymous SNV ADD1:NM_001119:exon10:c.G1378T:p.G460W,ADD1:NM_014189:exon10:c.G1378T:p.G460W,ADD1:NM_014190:exon10:c.G1378T:p.G460W,ADD1:NM_176801:exon10:c.G1378T:p.G460W exonic ENSG00000087274 NA nonsynonymous SNV ENSG00000087274:ENST00000398123:exon9:c.G1378T:p.G460W,ENSG00000087274:ENST00000398129:exon9:c.G1378T:p.G460W,ENSG00000087274:ENST00000264758:exon10:c.G1378T:p.G460W,ENSG00000087274:ENST00000398125:exon10:c.G1378T:p.G460W,ENSG00000087274:ENST00000446856:exon10:c.G1378T:p.G460W,ENSG00000087274:ENST00000503455:exon10:c.G1378T:p.G460W,ENSG00000087274:ENST00000513328:exon10:c.G1378T:p.G460W,ENSG00000087274:ENST00000355842:exon11:c.G1378T:p.G460W Score=766;Name=lod=1731 NA 4p16.3 NA NA NA NA rs4961 0.25 0.25 0.238 0.208466 0.2048 0.4524 0.1744 0.0492 0.2004 0.22 0.5 0.18 0.05 0.2019 0.5 0.02 D 1.0 D 1.0 D 0.000 D 0.000 P 1.975 M 2.05 T -0.946 T 0.000 T 0.633 4.049 20.8 5.55 2.610 6.521 19.496 4.049487 4.049487 0.02 0.195116 0.085565 NA 0.275 CLINSIG=other;CLNDBN=Hypertension\x2c_salt-sensitive_essential\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000019936.1;CLNDSDB=.;CLNDSDBID=. 16.7315174 89 13 31221106 31221106 C T exonic USPL1 NA nonsynonymous SNV USPL1:NM_005800:exon7:c.C1150T:p.P384S exonic ENSG00000132952 NA nonsynonymous SNV ENSG00000132952:ENST00000255304:exon7:c.C1150T:p.P384S Score=547;Name=lod=223 NA 13q12.3 NA NA NA NA rs3742303 0.03 0.03 0.029 0.0407348 0.0328 0.0585 0.0245 0.0015 0.0951 0.03 0.07 0.03 NA 0.0398 0.07 0 D 0.988 D 0.68 P 0.000 D 0.986 D 2.28 M 0.79 T -0.967 T 0.024 T 0.222 3.944 20.2 4.72 1.489 1.710 12.920 3.943633 3.943633 0 0.033256 0.006809 NA 0.101 NA 16.7274774 90 2 179650408 179650408 G A exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon14:c.C2294T:p.T765I,ENSG00000155657:ENST00000359218:exon14:c.C2294T:p.T765I,ENSG00000155657:ENST00000460472:exon14:c.C2294T:p.T765I,ENSG00000155657:ENST00000342992:exon15:c.C2432T:p.T811I,ENSG00000155657:ENST00000360870:exon15:c.C2432T:p.T811I,ENSG00000155657:ENST00000589042:exon15:c.C2432T:p.T811I,ENSG00000155657:ENST00000591111:exon15:c.C2432T:p.T811I Score=570;Name=lod=277 NA 2q31.2 Score=943;Name=V$EGR1_01 Name=Egr-1 NA NA rs35813871 0.13 0.13 0.122 0.100439 0.2157 0.001 0.1499 0.0862 0.0685 0.22 NA 0.17 0.12 0.1691 0.23 0 D 0.999 D 0.951 D . . 0.062 P 0.895 L 0.25 T -1.116 T 0.000 T 0.639 2.46 14.19 5.51 2.738 5.619 19.784 2.460217 2.460217 0 0.234535 0.102133 NA 0.13 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040075.2|RCV000125850.1;CLNDSDB=.|.;CLNDSDBID=.|. 16.7139984 91 19 33490566 33490566 T C exonic RHPN2 NA nonsynonymous SNV RHPN2:NM_033103:exon10:c.A1151G:p.Q384R exonic ENSG00000131941 NA nonsynonymous SNV ENSG00000131941:ENST00000400226:exon9:c.A698G:p.Q233R,ENSG00000131941:ENST00000254260:exon10:c.A1151G:p.Q384R Score=548;Name=lod=224 NA 19q13.11 Score=884;Name=V$ZID_01 NA NA NA rs74582927 NA NA 0.11 0.278155 0.2883 0.2401 0.2176 0.3003 0.32 NA NA NA NA 0.3653 NA 0.2 T 1.0 D 0.982 D 0.000 D 1.000 D 2.34 M 2.26 T -1.024 T 0.112 T 0.724 4.389 23.2 4.72 1.765 7.278 14.205 4.389444 4.389444 0.08 NA NA ID=COSM1480906;OCCURENCE=2(breast) NA NA 16.6797334 92 11 124294377 124294377 A G exonic OR8B4 NA nonsynonymous SNV OR8B4:NM_001005196:exon1:c.T391C:p.Y131H exonic ENSG00000198657 NA nonsynonymous SNV ENSG00000198657:ENST00000356130:exon1:c.T391C:p.Y131H Score=389;Name=lod=51 NA 11q24.2 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs4057750 0.25 0.25 0.266 0.259984 0.1978 0.2163 0.1931 0.3843 0.2485 0.2 0.19 0.19 0.43 0.2325 0.43 0.01 D 1.0 D 0.999 D 0.000 D 0.001 P 3.38 M 7.58 T -0.931 T 0.000 T 0.334 3.53 18.02 4.62 2.073 8.756 14.135 3.530106 3.530106 0.01 0.228309 0.341209 NA 0.341 NA 16.6747244 92 11 124294236 124294236 A G exonic OR8B4 NA nonsynonymous SNV OR8B4:NM_001005196:exon1:c.T532C:p.C178R exonic ENSG00000198657 NA nonsynonymous SNV ENSG00000198657:ENST00000356130:exon1:c.T532C:p.C178R Score=355;Name=lod=37 NA 11q24.2 Score=887;Name=V$GATA1_02 NA NA NA rs4057749 0.27 0.27 0.281 0.28155 0.1988 0.2163 0.196 0.4637 0.2485 0.2 0.19 0.2 0.51 0.2378 0.51 0.01 D 1.0 D 0.995 D 0.000 D 0.000 P 3.76 H 0.02 T -0.966 T 0.000 T 0.299 3.011 16.05 4.02 2.070 7.016 13.713 3.011484 3.011484 0.01 0.228658 0.389368 NA 0.355 NA 16.6680754 93 15 91326099 91326099 C T exonic BLM NA nonsynonymous SNV BLM:NM_000057:exon13:c.C2603T:p.P868L exonic ENSG00000197299 NA nonsynonymous SNV ENSG00000197299:ENST00000355112:exon13:c.C2603T:p.P868L,ENSG00000197299:ENST00000560509:exon13:c.C2603T:p.P868L Score=593;Name=lod=343 NA 15q26.1 Score=817;Name=V$CEBP_C NA NA NA rs2227935 0.05 0.05 0.047 0.0513179 0.0736 NA 0.049 0.0749 0.0511 0.07 NA 0.06 0.09 0.0559 0.09 0.02 D 0.81 P 0.342 B 0.000 D 0.000 P 2.395 M 0.66 T -0.918 T 0.010 T 0.668 3.829 19.45 5.54 2.603 5.647 16.975 3.829246 3.829246 0 0.065263 0.073476 NA 0.029 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078058.4;CLNDSDB=.;CLNDSDBID=. 16.6385704 94 19 1079959 1079959 G A exonic HMHA1 NA nonsynonymous SNV HMHA1:NM_001258328:exon13:c.G1593A:p.M531I,HMHA1:NM_012292:exon13:c.G1545A:p.M515I exonic ENSG00000180448 NA nonsynonymous SNV ENSG00000180448:ENST00000590577:exon3:c.G450A:p.M150I,ENSG00000180448:ENST00000536472:exon12:c.G1065A:p.M355I,ENSG00000180448:ENST00000543365:exon12:c.G1194A:p.M398I,ENSG00000180448:ENST00000313093:exon13:c.G1545A:p.M515I,ENSG00000180448:ENST00000539243:exon13:c.G1593A:p.M531I,ENSG00000180448:ENST00000586866:exon13:c.G1557A:p.M519I,ENSG00000180448:ENST00000590214:exon13:c.G1626A:p.M542I Score=573;Name=lod=284 NA 19p13.3 Score=867;Name=V$OCT1_02 Name=USF1_(SC-8983),Rad21,CTCF Name=6 NA rs36084354 0.04 0.04 0.039 0.0291534 0.0855 0.0069 0.0548 0.0045 0.0092 0.08 0.01 0.07 0.01 0.0584 0.082 0.29 T 0.649 P 0.21 B 0.000 U 1.000 D 2.045 M 1.0 T -1.131 T 0.008 T 0.281 3.34 17.24 4.41 2.021 2.741 14.494 3.339832 3.339832 0.24 0.082093 0.018611 ID=COSM438502;OCCURENCE=2(breast) 0.08 NA 16.6073404 95 15 82574879 82574879 T C exonic FAM154B NA nonsynonymous SNV FAM154B:NM_001008226:exon3:c.T673C:p.W225R exonic ENSG00000188659 NA nonsynonymous SNV ENSG00000188659:ENST00000339465:exon3:c.T673C:p.W225R,ENSG00000188659:ENST00000427381:exon4:c.T628C:p.W210R Score=300;Name=lod=22 NA 15q25.2 Score=919;Name=V$NFKB_C Name=NFKB,CTCF NA NA rs11630197 0.21 0.21 0.202 0.234824 0.2873 0.1647 0.17 0.146 0.4192 0.3 0.17 0.19 0.12 0.2535 0.3 0.33 T 1.0 D 0.998 D 0.000 D 0.000 P 2.67 M 2.16 T -1.009 T 0.000 T 0.548 3.43 17.6 3.9 1.751 6.255 13.153 3.429838 3.429838 0 0.255698 0.167272 NA 0.246 NA 16.5368354 96 1 103379918 103379918 G A exonic COL11A1 NA nonsynonymous SNV COL11A1:NM_080630:exon50:c.C3620T:p.P1207L,COL11A1:NM_001190709:exon51:c.C3851T:p.P1284L,COL11A1:NM_001854:exon52:c.C3968T:p.P1323L,COL11A1:NM_080629:exon52:c.C4004T:p.P1335L exonic ENSG00000060718 NA nonsynonymous SNV ENSG00000060718:ENST00000512756:exon50:c.C3620T:p.P1207L,ENSG00000060718:ENST00000353414:exon51:c.C3851T:p.P1284L,ENSG00000060718:ENST00000358392:exon52:c.C4004T:p.P1335L,ENSG00000060718:ENST00000370096:exon52:c.C3968T:p.P1323L Score=603;Name=lod=376 Name=Glaucoma (primary open-angle) 1p21.1 NA NA NA NA rs3753841 0.53 0.53 0.452 0.496605 0.6123 0.7034 0.755 0.0492 0.5859 0.61 0.71 0.73 0.06 0.5916 0.73 0.09 T 0.935 P 0.715 P 0.000 D 0.000 P 2.75 M -4.09 D 0.969 D 0.915 D 0.527 4.107 21.2 5.75 2.716 9.365 19.960 4.107244 4.107244 0.12 0.611628 0.139582 NA 0.348 NA 16.5178054 96 6 160952838 160952838 G A exonic LPA NA nonsynonymous SNV LPA:NM_005577:exon40:c.C6046T:p.R2016C exonic ENSG00000198670 NA nonsynonymous SNV ENSG00000198670:ENST00000316300:exon39:c.C6046T:p.R2016C,ENSG00000198670:ENST00000447678:exon40:c.C6046T:p.R2016C Score=619;Name=lod=437 NA 6q25.3 Score=837;Name=V$AHRARNT_01 NA NA NA rs3124784 0.21 0.21 0.227 0.202676 0.2942 0.1081 0.1398 0.2421 0.1973 0.29 0.11 0.16 0.25 0.2456 0.29 0.1 T 1.0 D 0.994 D . . 0.840 P 1.35 L -2.5 D 0.354 D 0.664 D 0.154 0.61 7.285 3.02 1.412 2.791 13.963 0.609824 NA 0.02 0.276395 0.232864 NA 0.167 NA 16.5171384 97 11 47470345 47470345 G A exonic RAPSN NA nonsynonymous SNV RAPSN:NM_005055:exon1:c.C172T:p.R58C,RAPSN:NM_032645:exon1:c.C172T:p.R58C exonic ENSG00000165917 NA nonsynonymous SNV ENSG00000165917:ENST00000298854:exon1:c.C172T:p.R58C,ENSG00000165917:ENST00000352508:exon1:c.C172T:p.R58C,ENSG00000165917:ENST00000524487:exon1:c.C172T:p.R58C,ENSG00000165917:ENST00000529341:exon1:c.C172T:p.R58C Score=546;Name=lod=221 NA 11p11.2 NA NA NA NA rs34312154 0.06 0.06 0.035 0.0577077 0.1163 0.005 0.1023 0.003 0.0941 0.12 0.01 0.1 0.0041 0.1008 0.12 0.04 D 0.999 D 0.862 P 0.000 D 0.000 P 1.1 L -1.58 D -0.705 T 0.019 T 0.359 4.777 26.8 5.45 2.553 5.474 13.34 4.776946 4.776946 0 0.106794 0.02249 NA 0.036 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118118.2;CLNDSDB=.;CLNDSDBID=. 16.5094394 98 17 45214558 45214558 G A exonic CDC27 NA stopgain CDC27:NM_001114091:exon14:c.C1891T:p.R631X,CDC27:NM_001256:exon14:c.C1873T:p.R625X exonic ENSG00000004897 NA stopgain ENSG00000004897:ENST00000446365:exon13:c.C1690T:p.R564X,ENSG00000004897:ENST00000066544:exon14:c.C1873T:p.R625X,ENSG00000004897:ENST00000527547:exon14:c.C1870T:p.R624X,ENSG00000004897:ENST00000531206:exon14:c.C1891T:p.R631X Score=658;Name=lod=631 NA 17q21.32 Score=917;Name=V$FOXO4_01 Name=STAT1,CTCF,TAF1,CTCFL_(SC-98982),GABP,SUZ12,IRF3,ZNF274,EBF,ZZZ3,YY1,c-Jun,GATA-2,c-Fos Name=148 NA rs77685276 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4968 NA 1 T . . . . 0.000 D 1.000 A . . . . . . . . . 7.519 39 4.79 2.761 2.041 10.719 7.518532 7.518532 1 NA NA NA NA NA 16.5032 99 5 40841741 40841741 C T exonic CARD6 NA nonsynonymous SNV CARD6:NM_032587:exon1:c.C257T:p.S86L exonic ENSG00000132357 NA nonsynonymous SNV ENSG00000132357:ENST00000254691:exon1:c.C257T:p.S86L,ENSG00000132357:ENST00000381677:exon1:c.C257T:p.S86L Score=309;Name=lod=24 NA 5p13.1 Score=831;Name=V$CEBP_C Name=YY1,Pol2,MafK_(SC-477),TAF1,MafF_(M8194),FOXA1_(C-20),p300,CTCF,GTF2F1_(RAP-74),TBP,HEY1,FOXA2_(SC-6554),FOXA1_(SC-101058),MafK_(ab50322) Name=105 NA rs10512747 0.06 0.06 0.058 0.048123 0.1272 0.005 0.0605 0.0068 0.0583 0.13 0.0017 0.07 0.01 0.0913 0.13 0 D 0.989 D 0.845 P 0.135 N 0.677 P 1.935 M 2.76 T -1.091 T 0.001 T 0.363 3.841 19.51 4.01 1.275 0.479 8.544 3.840641 3.840641 0 0.120465 0.024512 NA 0.072 NA 16.4943684 100 5 118811533 118811533 G A exonic HSD17B4 NA nonsynonymous SNV HSD17B4:NM_001199292:exon5:c.G263A:p.R88H,HSD17B4:NM_000414:exon6:c.G317A:p.R106H,HSD17B4:NM_001199291:exon7:c.G392A:p.R131H exonic ENSG00000133835 NA nonsynonymous SNV ENSG00000133835:ENST00000515320:exon5:c.G263A:p.R88H,ENSG00000133835:ENST00000256216:exon6:c.G317A:p.R106H,ENSG00000133835:ENST00000442060:exon6:c.G317A:p.R106H,ENSG00000133835:ENST00000504811:exon7:c.G392A:p.R131H,ENSG00000133835:ENST00000510025:exon7:c.G245A:p.R82H Score=592;Name=lod=340 NA 5q23.1 Score=887;Name=V$HSF1_01 NA NA NA rs25640 0.4 0.4 0.36 0.36262 0.4493 0.5069 0.5086 0.1097 0.363 0.47 0.48 0.5 0.12 0.44 0.5 0.02 D 0.996 D 0.687 P 0.000 D 0.000 P 0.6 N -2.29 D -0.975 T 0.000 T 0.647 4.38 23.1 5.67 2.676 7.633 19.358 4.380296 4.380296 0.01 0.459981 0.176203 ID=COSM1432658;OCCURENCE=1(large_intestine) 0.239 CLINSIG=pathogenic;CLNDBN=Bifunctional_peroxisomal_enzyme_deficiency;CLNREVSTAT=single;CLNACC=RCV000008096.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0342870:261515:238068007 16.4840524 100 10 115410234 115410234 T C exonic NRAP NA nonsynonymous SNV NRAP:NM_001261463:exon8:c.A746G:p.Y249C,NRAP:NM_006175:exon8:c.A746G:p.Y249C,NRAP:NM_198060:exon8:c.A746G:p.Y249C exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000359988:exon8:c.A746G:p.Y249C,ENSG00000197893:ENST00000360478:exon8:c.A746G:p.Y249C,ENSG00000197893:ENST00000369358:exon8:c.A746G:p.Y249C,ENSG00000197893:ENST00000369360:exon8:c.A746G:p.Y249C Score=519;Name=lod=171 NA 10q25.3 Score=885;Name=V$GATA1_04 NA NA NA rs2185913 0.24 0.24 0.231 0.203474 0.3012 0.3343 0.245 0.0182 0.1892 0.29 0.35 0.28 0.03 0.2598 0.35 0.02 D 1.0 D 1.0 D 0.000 D 0.000 P 2.44 M 2.32 T -1.062 T 0.000 T 0.478 4.513 24.3 6.17 2.371 7.283 16.822 4.512888 4.512888 0.02 0.292093 0.058103 ID=COSM147049;OCCURENCE=1(stomach) 0.174 NA 16.4802404 101 1 9324213 9324213 C T exonic H6PD NA nonsynonymous SNV H6PD:NM_004285:exon5:c.C1661T:p.P554L exonic ENSG00000049239 NA nonsynonymous SNV ENSG00000049239:ENST00000377403:exon5:c.C1661T:p.P554L,ENSG00000049239:ENST00000602477:exon5:c.C1694T:p.P565L Score=304;Name=lod=23 NA 1p36.22 Score=979;Name=V$AP2REP_01 NA NA NA rs17368528 0.08 0.08 0.06 0.096845 0.1302 0.0685 0.1138 0.0053 0.2035 0.13 0.07 0.12 0.01 0.1185 0.13 0.02 D 0.913 P 0.208 B 0.001 D 0.000 P 2.075 M -4.76 D -0.514 T 0.077 T 0.183 2.424 14.06 4.76 2.677 1.817 13.147 2.423691 2.423691 NA 0.122615 0.022727 NA 0.094 NA 16.4620184 102 11 5510688 5510688 T C exonic OR52D1 NA nonsynonymous SNV OR52D1:NM_001005163:exon1:c.T752C:p.I251T exonic ENSG00000181609 NA nonsynonymous SNV ENSG00000181609:ENST00000322641:exon1:c.T752C:p.I251T Score=278;Name=lod=18 NA 11p15.4 NA Name=Pol2(b) NA NA rs7101919 0.18 0.18 0.165 0.154353 0.3111 0.0397 0.2767 0.0567 0.1564 0.31 0.05 0.27 0.09 0.2611 0.32 0 D 1.0 D 0.99 D 0.000 D 0.000 P 3.255 M 8.52 T -0.783 T 0.000 T 0.231 3.455 17.7 5.58 2.343 2.095 14.723 3.454892 3.454892 0 0.321969 0.096547 NA 0.275 NA 16.4391644 103 1 226019633 226019633 T C exonic EPHX1 NA nonsynonymous SNV EPHX1:NM_000120:exon3:c.T337C:p.Y113H,EPHX1:NM_001136018:exon3:c.T337C:p.Y113H exonic ENSG00000143819 NA nonsynonymous SNV ENSG00000143819:ENST00000272167:exon3:c.T337C:p.Y113H,ENSG00000143819:ENST00000366837:exon3:c.T337C:p.Y113H,ENSG00000143819:ENST00000445856:exon3:c.T337C:p.Y113H,ENSG00000143819:ENST00000448202:exon3:c.T337C:p.Y113H Score=468;Name=lod=106 NA 1q42.12 NA NA NA NA rs1051740 0.32 0.32 0.287 0.313299 0.3042 0.4821 0.3199 0.1407 0.3773 0.3 0.45 0.33 0.16 0.3134 0.45 0 D 0.998 D 0.986 D 0.000 D 0.000 P 2.185 M 3.7 T -0.886 T 0.000 T 0.678 4.99 29.3 5.58 2.136 7.809 15.758 4.990224 4.990224 0 0.299651 0.176123 NA 0.326 CLINSIG=other|other|other|other;CLNDBN=Lymphoproliferative_disorders\x2c_susceptibility_to|Preeclampsia\x2c_susceptibility_to|Emphysema\x2c_susceptibility_to|Pulmonary_disease\x2c_chronic_obstructive\x2c_susceptibility_to;CLNREVSTAT=single|single|single|single;CLNACC=RCV000018075.1|RCV000018076.1|RCV000018077.1|RCV000018078.1;CLNDSDB=.|.|.|.;CLNDSDBID=.|.|.|. 16.4160824 104 16 71683718 71683718 A G exonic PHLPP2 NA nonsynonymous SNV PHLPP2:NM_015020:exon18:c.T3047C:p.L1016S exonic ENSG00000040199 NA nonsynonymous SNV ENSG00000040199:ENST00000393524:exon17:c.T2846C:p.L949S,ENSG00000040199:ENST00000356272:exon18:c.T3047C:p.L1016S,ENSG00000040199:ENST00000567016:exon19:c.T3152C:p.L1051S,ENSG00000040199:ENST00000568954:exon19:c.T3047C:p.L1016S Score=547;Name=lod=223 NA 16q22.2 NA NA NA Score=92;Name=928795_0_+_92 rs61733127 0.1 0.1 0.08 0.086861 0.1481 0.0665 0.0634 0.028 0.1411 0.16 0.07 0.09 0.02 0.1214 0.16 0.02 D 0.975 D 0.853 P 0.000 D 0.000 P 2.99 M 2.28 T -1.146 T 0.001 T 0.879 3.826 19.43 5.9 2.251 9.339 15.513 3.826151 3.826151 0.02 0.149884 0.045723 NA 0.051 NA 16.4139494 105 17 34077232 34077232 G A exonic GAS2L2 NA nonsynonymous SNV GAS2L2:NM_139285:exon2:c.C491T:p.A164V exonic ENSG00000132139 NA nonsynonymous SNV ENSG00000132139:ENST00000254466:exon2:c.C491T:p.A164V,ENSG00000132139:ENST00000587565:exon2:c.C491T:p.A164V Score=550;Name=lod=229 NA 17q12 Score=769;Name=V$PAX5_01 Name=Egr-1,ZBTB7A_(SC-34508),E2F6_(H-50),ELF1_(SC-631) Name=42 NA rs11654604 0.16 0.16 0.13 0.143371 0.162 0.1567 0.2046 0.1014 0.1237 0.18 0.14 0.2 0.12 0.156 0.2 0.4 T 0.998 D 0.773 P 0.318 N 0.584 P 1.95 M 0.98 T -1.087 T 0.000 T 0.191 2.583 14.6 5.11 2.370 1.608 12.733 2.583429 2.583429 0.04 0.14736 0.108715 NA 0.196 NA 16.3679734 106 9 8465666 8465666 C G exonic PTPRD NA nonsynonymous SNV PTPRD:NM_001171025:exon14:c.G2251C:p.E751Q,PTPRD:NM_001040712:exon15:c.G2272C:p.E758Q,PTPRD:NM_130393:exon15:c.G2266C:p.E756Q,PTPRD:NM_130391:exon16:c.G2281C:p.E761Q,PTPRD:NM_130392:exon16:c.G2281C:p.E761Q,PTPRD:NM_002839:exon32:c.G3514C:p.E1172Q exonic ENSG00000153707 NA nonsynonymous SNV ENSG00000153707:ENST00000397606:exon14:c.G2251C:p.E751Q,ENSG00000153707:ENST00000397617:exon14:c.G2251C:p.E751Q,ENSG00000153707:ENST00000537002:exon14:c.G2272C:p.E758Q,ENSG00000153707:ENST00000397611:exon15:c.G2272C:p.E758Q,ENSG00000153707:ENST00000355233:exon16:c.G2281C:p.E761Q,ENSG00000153707:ENST00000486161:exon16:c.G2281C:p.E761Q,ENSG00000153707:ENST00000358503:exon17:c.G3448C:p.E1150Q,ENSG00000153707:ENST00000360074:exon18:c.G3475C:p.E1159Q,ENSG00000153707:ENST00000356435:exon21:c.G3514C:p.E1172Q,ENSG00000153707:ENST00000540109:exon21:c.G3514C:p.E1172Q,ENSG00000153707:ENST00000381196:exon29:c.G3514C:p.E1172Q Score=616;Name=lod=425 NA 9p24.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.981 D 0.932 D 0.000 D 1.000 D 1.78 L 0.91 T -0.619 T 0.306 T 0.782 4.144 21.4 5.5 2.746 7.445 19.757 4.144176 4.144176 0.25 NA NA NA NA NA 16.3333334 106 17 21217513 21217513 G A exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon12:c.G928A:p.V310M,MAP2K3:NM_145109:exon12:c.G1015A:p.V339M exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000342679:exon12:c.G1015A:p.V339M,ENSG00000034152:ENST00000361818:exon12:c.G928A:p.V310M,ENSG00000034152:ENST00000316920:exon13:c.G928A:p.V310M Score=522;Name=lod=177 NA 17p11.2 Score=747;Name=V$STAT5A_02 NA NA NA rs2363198 0.49 0.49 NA NA NA NA NA NA NA 0.49 0.49 0.5 0.5 0.5 0.5 0 D 0.997 D 0.789 P 0.000 D 1.000 D 1.655 L -0.77 T -0.986 T 0.000 T 0.308 3.586 18.26 3.94 1.057 7.174 10.666 3.58578 3.58578 0 NA NA NA 0.42 NA 16.3333334 106 19 9296702 9296702 T C exonic OR7D2 NA nonsynonymous SNV OR7D2:NM_175883:exon1:c.T245C:p.L82P exonic ENSG00000188000 NA nonsynonymous SNV ENSG00000188000:ENST00000344248:exon1:c.T245C:p.L82P NA NA 19p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.999 D 0.967 D 0.007 U 0.992 D 4.13 H 7.41 T -1.048 T 0.006 T 0.809 2.851 15.5 2.21 1.296 6.633 9.517 2.85105 2.85105 0 NA NA NA NA NA 16.3333334 106 6 35258481 35258481 G T exonic ZNF76 NA nonsynonymous SNV ZNF76:NM_003427:exon7:c.G613T:p.A205S exonic ENSG00000065029 NA nonsynonymous SNV ENSG00000065029:ENST00000440666:exon6:c.G535T:p.A179S,ENSG00000065029:ENST00000339411:exon7:c.G613T:p.A205S,ENSG00000065029:ENST00000373953:exon7:c.G613T:p.A205S,ENSG00000065029:ENST00000469195:exon7:c.G613T:p.A205S Score=589;Name=lod=329 NA 6p21.31 Score=960;Name=V$CEBP_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008238 NA 0.4 T 0.956 P 0.622 P 0.000 D 0.962 D 1.01 L 1.28 T -1.145 T 0.056 T 0.309 3.213 16.76 5.36 2.797 5.944 13.575 3.212611 3.212611 0.18 NA NA NA NA NA 16.3333252 106 5 140209598 140209598 A T exonic PCDHA6 NA nonsynonymous SNV PCDHA6:NM_018909:exon1:c.A1922T:p.D641V,PCDHA6:NM_031848:exon1:c.A1922T:p.D641V exonic ENSG00000081842 NA nonsynonymous SNV ENSG00000081842:ENST00000529310:exon1:c.A1922T:p.D641V Score=259;Name=lod=15 NA 5q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002487 NA 0 D 0.998 D 0.96 D 0.002 U 1.000 D 2.035 M 0.74 T -0.681 T 0.236 T 0.612 1.748 11.8 2.8 0.692 8.187 9.474 1.747703 1.747703 0 NA NA NA NA NA 16.3333085 106 14 39868794 39868794 C T exonic FBXO33 NA nonsynonymous SNV FBXO33:NM_203301:exon4:c.G1594A:p.E532K exonic ENSG00000165355 NA nonsynonymous SNV ENSG00000165355:ENST00000298097:exon4:c.G1594A:p.E532K Score=654;Name=lod=609 NA 14q21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003489 NA . . 0.999 D 0.972 D 0.000 D 1.000 D 0.345 N 0.89 T -0.935 T 0.153 T 0.653 2.384 13.93 5.85 2.767 4.383 20.154 2.384205 2.384205 0 NA NA NA NA NA 16.3332985 106 6 155606327 155606327 T C exonic TFB1M NA nonsynonymous SNV TFB1M:NM_016020:exon5:c.A631G:p.T211A exonic ENSG00000029639 NA nonsynonymous SNV ENSG00000029639:ENST00000367166:exon5:c.A631G:p.T211A Score=336;Name=lod=31 NA 6q25.3 Score=752;Name=V$STAT3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009887 NA 0.74 T 0.372 B 0.216 B 0.001 D 0.999 D 2.045 M 1.58 T -1.100 T 0.042 T 0.431 1.667 11.53 5.9 2.254 2.609 12.174 1.666688 1.666688 0.94 NA NA NA NA NA 16.3332345 106 18 21104425 21104425 A G exonic C18orf8 NA nonsynonymous SNV C18orf8:NM_001276342:exon10:c.A895G:p.I299V,C18orf8:NM_013326:exon12:c.A1039G:p.I347V exonic ENSG00000141452 NA nonsynonymous SNV ENSG00000141452:ENST00000590868:exon10:c.A895G:p.I299V,ENSG00000141452:ENST00000269221:exon12:c.A1039G:p.I347V Score=525;Name=lod=182 NA 18q11.2 NA NA NA NA rs147982431 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.001 0.22 T 0.994 D 0.978 D 0.000 D 1.000 D 2.14 M . . -0.304 T 0.408 T 0.526 4.538 24.5 5.4 2.032 8.857 15.412 4.538377 4.538377 0 0.001047 0 NA NA NA 16.3320864 106 3 57303603 57303603 C G exonic APPL1 NA nonsynonymous SNV APPL1:NM_012096:exon22:c.C2018G:p.S673C exonic ENSG00000157500 NA nonsynonymous SNV ENSG00000157500:ENST00000288266:exon22:c.C2018G:p.S673C Score=689;Name=lod=844 NA 3p14.3 NA NA NA NA rs138485817 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0006 0.0028 0.02 D 0.999 D 0.99 D 0.000 D 1.000 D 0.975 L 2.74 T -1.150 T 0.076 T 0.587 2.898 15.66 5.65 2.817 7.436 20.078 2.897885 2.897885 0.01 0.001977 0 NA NA NA 16.3307564 106 13 46538118 46538118 G T exonic ZC3H13 NA nonsynonymous SNV ZC3H13:NM_015070:exon17:c.C4534A:p.P1512T exonic ENSG00000123200 NA nonsynonymous SNV ENSG00000123200:ENST00000378921:exon4:c.C1399A:p.P467T,ENSG00000123200:ENST00000242848:exon17:c.C4531A:p.P1511T,ENSG00000123200:ENST00000282007:exon17:c.C4534A:p.P1512T Score=635;Name=lod=507 NA 13q14.13 NA NA NA NA rs143461574 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0007 0.0026 0 D 1.0 D 0.999 D 0.000 D 1.000 D 1.7 L 2.3 T -0.557 T 0.286 T 0.695 3.7 18.8 5.73 2.713 5.284 19.898 3.70006 3.70006 0 0.000465 0 NA NA NA 16.3301684 106 2 101643904 101643904 C G exonic TBC1D8 NA nonsynonymous SNV TBC1D8:NM_001102426:exon15:c.G2416C:p.V806L exonic ENSG00000204634 NA nonsynonymous SNV ENSG00000204634:ENST00000376840:exon15:c.G2416C:p.V806L,ENSG00000204634:ENST00000409318:exon15:c.G2461C:p.V821L Score=295;Name=lod=21 NA 2q11.2 Score=759;Name=V$STAT3_01 NA NA NA rs201720097 0.0009 0.0009 NA 0.000599042 0.002 NA NA NA 0.001 0.0026 NA NA NA 0.0007 0.0026 0.81 T 1.0 D 0.998 D 0.000 D 0.945 D 1.78 L 0.82 T -0.787 T 0.238 T 0.511 3.891 19.78 5.18 2.554 3.810 17.238 3.891088 3.891088 0.01 0.000484 0 NA NA NA 16.3301494 106 4 70361182 70361182 T C exonic UGT2B4 NA nonsynonymous SNV UGT2B4:NM_021139:exon1:c.A398G:p.N133S exonic ENSG00000156096 NA nonsynonymous SNV ENSG00000156096:ENST00000305107:exon1:c.A398G:p.N133S,ENSG00000156096:ENST00000512583:exon1:c.A398G:p.N133S Score=272;Name=lod=17 NA 4q13.2 NA NA NA NA rs181603790 0.0014 0.0014 NA 0.000998403 NA NA 0.0058 0.0008 NA NA NA 0.01 NA 0.0016 0.01 0.05 D 1.0 D 0.999 D 0.003 U 0.999 D 2.305 M -0.06 T -0.445 T 0.293 T 0.038 1.7 11.64 2.4 1.101 3.264 8.360 1.699937 1.699937 0.03 0.002234 0.00048 NA NA NA 16.3294994 106 6 132061420 132061420 G A exonic ENPP3 NA nonsynonymous SNV ENPP3:NM_005021:exon24:c.G2357A:p.S786N exonic ENSG00000154269 NA nonsynonymous SNV ENSG00000154269:ENST00000357639:exon24:c.G2357A:p.S786N,ENSG00000154269:ENST00000414305:exon25:c.G2357A:p.S786N Score=295;Name=lod=21 NA 6q23.2 NA NA Name=37 NA rs17601580 0.1 0.1 0.092 0.0892572 0.1998 0.0129 0.0879 0.0106 0.1616 0.21 0.01 0.11 0.02 0.142 0.21 0.03 D 0.965 D 0.819 P 0.000 D 0.000 P 2.61 M -0.48 T -0.024 T 0.479 T 0.143 4.528 24.4 5.45 2.716 8.015 19.663 4.527897 4.527897 0.01 0.16314 0.028597 NA 0.116 NA 16.3283934 106 13 53049198 53049198 G C exonic CKAP2 NA nonsynonymous SNV CKAP2:NM_001098525:exon9:c.G1974C:p.L658F,CKAP2:NM_018204:exon9:c.G1971C:p.L657F exonic ENSG00000136108 NA nonsynonymous SNV ENSG00000136108:ENST00000258607:exon9:c.G1971C:p.L657F,ENSG00000136108:ENST00000378037:exon9:c.G1974C:p.L658F,ENSG00000136108:ENST00000490903:exon9:c.G1827C:p.L609F Score=340;Name=lod=32 NA 13q14.3 Score=947;Name=V$LYF1_01 NA NA NA rs34624748 0 0 NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.002 0.002 0.01 D 1.0 D 0.996 D 0.000 D 1.000 D 2.485 M 1.69 T -0.804 T 0.159 T 0.574 3.047 16.17 3.86 0.607 0.748 9.738 3.047053 3.047053 0 0.001977 0 NA NA NA 16.3283564 106 9 94486381 94486381 G A exonic ROR2 NA nonsynonymous SNV ROR2:NM_004560:exon9:c.C2395T:p.P799S exonic ENSG00000169071 NA nonsynonymous SNV ENSG00000169071:ENST00000375708:exon9:c.C2395T:p.P799S Score=563;Name=lod=260 NA 9q22.31 Score=824;Name=V$CEBP_C NA NA NA rs141235720 NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.0021 0.0034 0.33 T 1.0 D 0.996 D 0.001 D 1.000 D 0.805 L -1.13 T -0.210 T 0.474 T 0.467 2.77 15.22 4.65 2.415 4.347 17.751 2.770186 2.770186 0.19 0.003372 0.000908 ID=COSM48755;OCCURENCE=1(lung),1(large_intestine) NA NA 16.3268614 107 9 134308126 134308126 G A exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon2:c.G238A:p.V80I exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon2:c.G238A:p.V80I,ENSG00000130723:ENST00000458550:exon2:c.G238A:p.V80I,ENSG00000130723:ENST00000405995:exon3:c.G238A:p.V80I Score=720;Name=lod=1122 NA 9q34.13 NA NA NA NA rs41302675 0.0018 0.0018 0 0.00139776 0.003 NA 0.0043 NA 0.001 0.004 NA 0.0028 NA 0.0038 0.004 0.02 D 0.997 D 0.992 D 0.002 U 1.000 D 2.7 M 1.08 T -0.418 T 0.323 T 0.589 5.537 35 6.03 2.861 9.476 19.545 5.537088 5.537088 0 0.002959 0.001207 NA NA NA 16.3235744 107 11 62295149 62295149 T G exonic AHNAK NA nonsynonymous SNV AHNAK:NM_001620:exon5:c.A6740C:p.K2247T exonic ENSG00000124942 NA nonsynonymous SNV ENSG00000124942:ENST00000378024:exon5:c.A6740C:p.K2247T Score=547;Name=lod=223 NA 11q12.3 NA NA NA NA rs61524789 0.03 0.03 0.042 0.0295527 0.002 NA 0.0101 0.1051 NA 0.0026 NA 0.01 0.14 0.0082 0.14 0.03 D 0.997 D 0.99 D 0.001 U 1.000 D 3.675 H 2.71 T -1.128 T 0.001 T 0.133 3.039 16.14 3.38 1.546 5.886 12.011 3.038892 3.038892 0.28 0.000349 0.085831 NA 0.036 NA 16.3227844 107 16 89620328 89620328 G A exonic SPG7 NA nonsynonymous SNV SPG7:NM_003119:exon15:c.G2063A:p.R688Q exonic ENSG00000197912 NA nonsynonymous SNV ENSG00000197912:ENST00000268704:exon15:c.G2063A:p.R688Q Score=509;Name=lod=156 NA 16q24.3 Score=809;Name=V$PAX4_01 Name=c-Myc NA NA rs12960 0.12 0.12 0.099 0.105831 0.166 0.131 0.1124 0.0098 0.1431 0.17 0.13 0.12 0.02 0.1509 0.19 0.42 T 0.818 P 0.258 B 0.000 D 0.000 P 0.505 N -1.69 D -1.051 T 0.001 T 0.289 4.264 22.2 5.21 2.423 9.423 17.776 4.264034 4.264034 0.05 0.193882 0.037534 NA 0.087 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118410.2;CLNDSDB=.;CLNDSDBID=. 16.3225514 107 5 140362125 140362125 C G exonic PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2 NA nonsynonymous SNV PCDHAC1:NM_018898:exon3:c.C2558G:p.P853R,PCDHAC2:NM_018899:exon3:c.C2690G:p.P897R,PCDHA1:NM_018900:exon3:c.C2519G:p.P840R,PCDHA10:NM_018901:exon3:c.C2513G:p.P838R,PCDHA11:NM_018902:exon3:c.C2516G:p.P839R,PCDHA12:NM_018903:exon3:c.C2492G:p.P831R,PCDHA13:NM_018904:exon3:c.C2519G:p.P840R,PCDHA2:NM_018905:exon3:c.C2513G:p.P838R,PCDHA3:NM_018906:exon3:c.C2519G:p.P840R,PCDHA4:NM_018907:exon3:c.C2510G:p.P837R,PCDHA5:NM_018908:exon3:c.C2477G:p.P826R,PCDHA6:NM_018909:exon3:c.C2519G:p.P840R,PCDHA7:NM_018910:exon3:c.C2480G:p.P827R,PCDHA8:NM_018911:exon3:c.C2519G:p.P840R,PCDHA1:NM_031411:exon3:c.C1727G:p.P576R,PCDHA6:NM_031849:exon3:c.C1727G:p.P576R,PCDHA9:NM_031857:exon3:c.C2519G:p.P840R,PCDHA10:NM_031860:exon3:c.C1724G:p.P575R exonic ENSG00000081842,ENSG00000204961,ENSG00000204962,ENSG00000204963,ENSG00000204965,ENSG00000204967,ENSG00000204969,ENSG00000204970,ENSG00000239389,ENSG00000243232,ENSG00000248383,ENSG00000249158,ENSG00000250120,ENSG00000251664,ENSG00000255408 NA nonsynonymous SNV ENSG00000248383:ENST00000253807:exon3:c.C2558G:p.P853R,ENSG00000243232:ENST00000289269:exon3:c.C2690G:p.P897R,ENSG00000239389:ENST00000289272:exon3:c.C2519G:p.P840R,ENSG00000250120:ENST00000307360:exon3:c.C2513G:p.P838R,ENSG00000204970:ENST00000394633:exon3:c.C1727G:p.P576R,ENSG00000251664:ENST00000398631:exon3:c.C2492G:p.P831R,ENSG00000249158:ENST00000398640:exon3:c.C2516G:p.P839R,ENSG00000239389:ENST00000409494:exon3:c.C2519G:p.P840R,ENSG00000204970:ENST00000504120:exon3:c.C2519G:p.P840R,ENSG00000250120:ENST00000506939:exon3:c.C1724G:p.P575R,ENSG00000204967:ENST00000512229:exon3:c.C2510G:p.P837R,ENSG00000255408:ENST00000522353:exon3:c.C2519G:p.P840R,ENSG00000204963:ENST00000525929:exon3:c.C2480G:p.P827R,ENSG00000204969:ENST00000526136:exon3:c.C2513G:p.P838R,ENSG00000081842:ENST00000527624:exon3:c.C1727G:p.P576R,ENSG00000081842:ENST00000529310:exon3:c.C2519G:p.P840R,ENSG00000204965:ENST00000529619:exon3:c.C2477G:p.P826R,ENSG00000204965:ENST00000529859:exon3:c.C2477G:p.P826R,ENSG00000204967:ENST00000530339:exon3:c.C2510G:p.P837R,ENSG00000204962:ENST00000531613:exon3:c.C2519G:p.P840R,ENSG00000204961:ENST00000532602:exon3:c.C2519G:p.P840R Score=608;Name=lod=396 NA 5q31.3 NA Name=POU2F2,Pbx3,PU.1,Oct-2 NA NA rs79247475 0.0023 0.0023 NA 0.00159744 0.005 NA NA NA 0.0031 0.01 NA NA NA 0.0055 0.011 0.08 T 1.0 D 0.998 D 0.001 D 1.000 D 1.845 L 0.78 T -0.605 T 0.247 T 0.913 4.546 24.6 5.9 2.802 4.950 17.179 4.545576 4.545576 0 0.004302 0.000454 NA 0.007 NA 16.3185314 107 2 242742842 242742842 A G exonic GAL3ST2 NA nonsynonymous SNV GAL3ST2:NM_022134:exon4:c.A458G:p.Y153C exonic ENSG00000154252 NA nonsynonymous SNV ENSG00000154252:ENST00000192314:exon4:c.A458G:p.Y153C Score=340;Name=lod=32 NA 2q37.3 NA Name=Egr-1 NA NA rs139344622 0.0005 0.0005 NA 0.00119808 0.003 NA 0.0029 NA 0.001 NA NA 0.0028 NA 0.0051 0.008 0 D 1.0 D 0.988 D 0.011 N 0.877 N 3.46 M 1.7 T -0.689 T 0.166 T 0.872 3.283 17.02 3.83 1.737 5.339 13.089 3.28302 3.28302 0 0.008025 0.001589 NA 0.007 NA 16.3172084 107 20 31756954 31756954 G A exonic BPIFA2 NA nonsynonymous SNV BPIFA2:NM_080574:exon2:c.G3A:p.M1I exonic ENSG00000131050 NA nonsynonymous SNV ENSG00000131050:ENST00000253362:exon2:c.G3A:p.M1I,ENSG00000131050:ENST00000354932:exon2:c.G3A:p.M1I Score=383;Name=lod=48 NA 20q11.21 NA Name=CTCF NA NA rs17124277 0.03 0.03 0.034 0.0279553 0.005 NA 0.0058 0.0991 NA 0.01 NA 0.01 0.11 0.0099 0.11 0 D 1.0 D 0.994 D 0.000 D 0.000 P . . 1.4 T -0.981 T 0.006 T 0.411 3.615 18.4 4.22 2.633 3.596 12.378 3.615032 3.615032 0 0.001977 0.090785 NA 0.029 NA 16.3164564 108 20 51871502 51871502 G A exonic TSHZ2 NA nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.G1496A:p.R499K,TSHZ2:NM_173485:exon2:c.G1505A:p.R502K exonic ENSG00000182463 NA nonsynonymous SNV ENSG00000182463:ENST00000329613:exon2:c.G1496A:p.R499K,ENSG00000182463:ENST00000371497:exon2:c.G1505A:p.R502K,ENSG00000182463:ENST00000603338:exon2:c.G1496A:p.R499K Score=488;Name=lod=128 NA 20q13.2 NA NA NA NA rs45479792 0.0041 0.0041 NA 0.00299521 0.008 NA 0.0072 0.0008 0.001 0.01 NA 0.01 0.002 0.0066 0.01 0.11 T 0.994 D 0.97 D 0.000 D 1.000 D 2.31 M 1.6 T -0.800 T 0.148 T 0.581 3.908 19.87 4.98 1.482 7.604 17.083 3.907598 3.907598 0.02 0.007558 0.002043 NA NA NA 16.3111754 108 10 101591737 101591737 T C exonic ABCC2 NA nonsynonymous SNV ABCC2:NM_000392:exon23:c.T3107C:p.I1036T exonic ENSG00000023839 NA nonsynonymous SNV ENSG00000023839:ENST00000370449:exon23:c.T3107C:p.I1036T NA NA 10q24.2 NA NA NA NA rs45441199 0.0027 0.0027 0.002 0.00219649 0.0099 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0053 0.01 0.03 D 0.316 B 0.232 B 0.510 N 1.000 D 1.985 M -3.61 D 0.452 D 0.762 D 0.316 2.093 12.96 5.64 2.149 2.195 15.833 2.093462 2.093462 0.04 0.008721 0.001362 NA 0.014 NA 16.3094124 108 10 43318589 43318589 A C exonic BMS1 NA nonsynonymous SNV BMS1:NM_014753:exon20:c.A3156C:p.E1052D exonic ENSG00000165733 NA nonsynonymous SNV ENSG00000165733:ENST00000374518:exon20:c.A3156C:p.E1052D Score=638;Name=lod=522 NA 10q11.21 NA NA NA NA rs138847020 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0244 NA 0.58 T 0.999 D 0.994 D 0.000 D 1.000 D 3.065 M 2.61 T -0.932 T 0.098 T 0.693 4.15 21.4 4.54 1.825 1.940 8.055 4.149608 4.149608 0 NA NA ID=COSM1347789;OCCURENCE=1(large_intestine) NA NA 16.3089334 108 12 121416650 121416650 A C exonic HNF1A NA nonsynonymous SNV HNF1A:NM_000545:exon1:c.A79C:p.I27L exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000257555:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000400024:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000402929:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000538646:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000540108:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000541395:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000541924:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000544413:exon1:c.A79C:p.I27L Score=479;Name=lod=118 Name=LDL cholesterol,Cholesterol, total,Gamma gluatamyl transferase levels 12q24.31 Score=755;Name=V$PPARA_01 Name=TAF1 NA NA rs1169288 0.3 0.3 0.285 0.298522 0.339 0.3889 0.33 0.0832 0.4325 0.33 0.42 0.34 0.07 0.3533 0.42 0.33 T 0.025 B 0.047 B 0.001 D 0.000 P 1.445 L -4.99 D -1.199 T 0.000 T 0.491 2.485 14.27 4.45 1.637 3.135 12.900 2.485259 2.485259 0.09 0.335156 0.120744 ID=COSM430522;OCCURENCE=1(breast) 0.21 CLINSIG=other|other|probable-non-pathogenic|non-pathogenic;CLNDBN=Insulin_resistance\x2c_susceptibility_to|Serum_hdl_cholesterol_level\x2c_modifier_of|not_specified|not_provided;CLNREVSTAT=single|single|single|single;CLNACC=RCV000016074.1|RCV000016075.25|RCV000117233.3|RCV000125370.1;CLNDSDB=MedGen|.|.|.;CLNDSDBID=C1852091|.|.|. 16.3058774 109 8 143816828 143816828 G A exonic THEM6 NA nonsynonymous SNV THEM6:NM_016647:exon2:c.G598A:p.G200R exonic ENSG00000130193 NA nonsynonymous SNV ENSG00000130193:ENST00000336138:exon2:c.G598A:p.G200R Score=325;Name=lod=28 NA 8q24.3 NA NA NA NA rs11540544 0.0027 0.0027 0.005 0.00219649 0.008 NA 0.0029 NA 0.001 0.01 NA NA NA 0.0194 0.013 0.05 D 1.0 D 1.0 D 0.000 D 1.000 D 1.67 L 0.93 T -0.814 T 0.152 T 0.323 1.492 10.94 4.07 2.104 2.712 11.646 1.491689 1.491689 0.02 0.012704 0.001366 NA NA NA 16.2932294 109 10 100017453 100017453 T G exonic LOXL4 NA nonsynonymous SNV LOXL4:NM_032211:exon8:c.A1214C:p.D405A exonic ENSG00000138131 NA nonsynonymous SNV ENSG00000138131:ENST00000260702:exon8:c.A1214C:p.D405A Score=420;Name=lod=68 NA 10q24.2 Score=847;Name=V$OCT_C NA NA NA rs1983864 0.36 0.36 0.316 0.36222 0.341 0.6081 0.5231 0.0575 0.4284 0.35 0.59 0.44 0.08 0.3737 0.59 0 D 1.0 D 1.0 D 0.000 D 0.000 P 2.59 M 0.62 T -0.872 T 0.000 T 0.347 4.649 25.5 5.55 2.104 6.298 15.692 4.648533 4.648533 0 0.326512 0.104857 NA 0.312 NA 16.2921214 109 22 25301142 25301142 A G exonic SGSM1 NA nonsynonymous SNV SGSM1:NM_001098498:exon20:c.A2623G:p.I875V,SGSM1:NM_001098497:exon21:c.A2806G:p.I936V,SGSM1:NM_133454:exon21:c.A2788G:p.I930V,SGSM1:NM_001039948:exon22:c.A2971G:p.I991V exonic ENSG00000167037 NA nonsynonymous SNV ENSG00000167037:ENST00000400358:exon21:c.A2806G:p.I936V,ENSG00000167037:ENST00000400359:exon22:c.A2971G:p.I991V Score=529;Name=lod=189 NA 22q11.23 Score=962;Name=V$TCF11_01 NA NA NA rs61742274 0.01 0.01 0.004 0.00419329 0.0169 NA 0.0043 NA 0.001 0.01 NA 0.01 0.002 0.0101 0.015 0.53 T 0.981 D 0.916 D 0.000 D 1.000 D 0.175 N 3.96 T -0.708 T 0.012 T 0.218 3.549 18.1 5.62 2.278 6.177 15.321 3.548895 3.548895 0.02 0.014685 0.004425 NA NA NA 16.2916484 110 9 139946040 139946040 G A exonic ENTPD2 NA nonsynonymous SNV ENTPD2:NM_001246:exon3:c.C308T:p.A103V,ENTPD2:NM_203468:exon3:c.C308T:p.A103V exonic ENSG00000054179 NA nonsynonymous SNV ENSG00000054179:ENST00000312665:exon3:c.C308T:p.A103V,ENSG00000054179:ENST00000355097:exon3:c.C308T:p.A103V Score=381;Name=lod=47 NA 9q34.3 NA NA NA NA rs34618694 0.01 0.01 0.006 0.00599042 0.0249 NA 0.0029 NA 0.0031 0.03 NA 0.0028 NA 0.0104 0.03 0.12 T 1.0 D 1.0 D 0.000 D 1.000 D 2.695 M 2.24 T -0.980 T 0.056 T 0.362 4.063 20.9 4.78 2.203 7.483 16.790 4.063199 4.063199 0 0.014419 0.003636 NA NA NA 16.2836144 111 3 32533246 32533246 T C exonic CMTM6 NA nonsynonymous SNV CMTM6:NM_017801:exon2:c.A271G:p.T91A exonic ENSG00000091317 NA nonsynonymous SNV ENSG00000091317:ENST00000205636:exon2:c.A271G:p.T91A Score=358;Name=lod=38 NA 3p22.3 NA NA NA NA rs35574803 0.01 0.01 0.009 0.00698882 0.0239 NA 0.0072 NA 0.0061 0.02 NA 0.01 NA 0.0161 0.026 0.07 T 1.0 D 0.998 D 0.000 D 1.000 D 2.545 M 2.95 T -1.140 T 0.036 T 0.314 2.824 15.41 5.74 2.193 5.542 15.033 2.823896 2.823896 0 0.026512 0.003177 NA 0.043 NA 16.2668214 112 12 122618042 122618042 G A exonic MLXIP NA nonsynonymous SNV MLXIP:NM_014938:exon9:c.G1240A:p.D414N exonic ENSG00000175727 NA nonsynonymous SNV ENSG00000175727:ENST00000377037:exon1:c.G61A:p.D21N,ENSG00000175727:ENST00000538698:exon1:c.G61A:p.D21N,ENSG00000175727:ENST00000319080:exon9:c.G1240A:p.D414N Score=278;Name=lod=18 NA 12q24.31 Score=814;Name=V$HNF4_01_B Name=CTCF,CTCF_(SC-5916) Name=12 NA rs113336247 0.01 0.01 0.008 0.00838658 0.0288 NA 0.0101 0.0023 0.0031 0.03 NA 0.01 0.002 0.0233 0.033 0.36 T 0.948 P 0.642 P 0.111 N 0.989 D . . 2.45 T -1.111 T 0.050 T 0.052 1.977 12.57 5.23 2.437 4.150 12.191 1.977335 1.977335 0.01 0.033309 0.006265 NA 0.014 NA 16.2479244 113 14 24533474 24533474 G A exonic LRRC16B NA nonsynonymous SNV LRRC16B:NM_138360:exon32:c.G2999A:p.R1000H exonic ENSG00000186648 NA nonsynonymous SNV ENSG00000186648:ENST00000334420:exon32:c.G287A:p.R96H,ENSG00000186648:ENST00000342740:exon32:c.G2999A:p.R1000H Score=568;Name=lod=271 NA 14q11.2 Score=865;Name=V$ATF_01 NA NA NA rs117092113 0.02 0.02 0.025 0.0145767 0.0427 NA 0.0202 0.003 0.0123 0.04 NA 0.02 0.0041 0.0325 0.043 0.15 T 0.999 D 0.989 D 0.001 D 0.519 D 1.1 L 0.98 T -0.867 T 0.053 T 0.333 2.844 15.47 5.28 2.467 1.176 14.436 2.843857 2.843857 0.16 0.042791 0.010894 NA 0.022 NA 16.2153424 114 11 66358274 66358274 A C exonic CCDC87 NA nonsynonymous SNV CCDC87:NM_018219:exon1:c.T2213G:p.L738R exonic ENSG00000182791 NA nonsynonymous SNV ENSG00000182791:ENST00000333861:exon1:c.T2213G:p.L738R Score=352;Name=lod=36 NA 11q13.2 NA NA NA NA rs62000969 0.03 0.03 0.015 0.014976 0.0378 NA 0.0259 0.003 0.0153 0.05 0.01 0.03 0.02 0.0317 0.05 0 D 1.0 D 0.999 D 0.004 N 0.986 D 2.425 M 1.6 T -0.954 T 0.040 T 0.585 2.846 15.48 5.07 2.132 5.171 11.138 2.846324 2.846324 0 0.049942 0.011818 NA 0.022 NA 16.2138914 115 7 30880413 30880413 G A exonic FAM188B NA nonsynonymous SNV FAM188B:NM_032222:exon9:c.G1394A:p.C465Y exonic ENSG00000106125 NA nonsynonymous SNV ENSG00000106125:ENST00000265299:exon9:c.G1394A:p.C465Y Score=446;Name=lod=87 NA 7p14.3 NA Name=GATA-2 Name=14 NA rs34970833 0.02 0.02 0.017 0.0161741 0.0427 NA 0.0187 0.0008 0.0245 0.04 NA 0.02 0.002 0.0398 0.053 0 D 0.155 B 0.111 B 0.000 D 1.000 D 0.11 N 1.68 T -1.072 T 0.008 T 0.493 2.848 15.49 4.93 2.571 3.468 15.684 2.848205 2.848205 0 0.052613 0.010579 NA 0.08 NA 16.1982204 115 6 160196343 160196343 A G exonic ACAT2 NA nonsynonymous SNV ACAT2:NM_005891:exon5:c.A632G:p.K211R exonic ENSG00000120437 NA nonsynonymous SNV ENSG00000120437:ENST00000367048:exon5:c.A632G:p.K211R,ENSG00000120437:ENST00000541436:exon5:c.A719G:p.K240R Score=444;Name=lod=85 NA 6q25.3 NA NA NA NA rs25683 0.37 0.37 0.332 0.365216 0.5457 0.1637 0.5965 0.1679 0.4898 0.56 0.15 0.57 0.17 0.516 0.57 0.05 D 0.969 D 0.621 P 0.000 D 0.000 P 1.68 L -2.84 D 0.433 D 0.657 D 0.118 4.986 29.2 5.65 2.166 8.691 15.880 4.986498 4.986498 0.06 0.574419 0.219927 NA 0.312 NA 16.1972144 115 8 41566438 41566438 C T exonic ANK1 NA nonsynonymous SNV ANK1:NM_000037:exon17:c.G1856A:p.R619H,ANK1:NM_001142446:exon17:c.G1955A:p.R652H,ANK1:NM_020475:exon17:c.G1856A:p.R619H,ANK1:NM_020476:exon17:c.G1856A:p.R619H,ANK1:NM_020477:exon17:c.G1856A:p.R619H exonic ENSG00000029534 NA nonsynonymous SNV ENSG00000029534:ENST00000265709:exon17:c.G1955A:p.R652H,ENSG00000029534:ENST00000289734:exon17:c.G1856A:p.R619H,ENSG00000029534:ENST00000347528:exon17:c.G1856A:p.R619H,ENSG00000029534:ENST00000352337:exon17:c.G1856A:p.R619H,ENSG00000029534:ENST00000379758:exon17:c.G1856A:p.R619H,ENSG00000029534:ENST00000396942:exon17:c.G1856A:p.R619H,ENSG00000029534:ENST00000396945:exon17:c.G1856A:p.R619H Score=569;Name=lod=275 NA 8p11.21 Score=777;Name=V$ER_Q6 Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs2304877 0.05 0.05 0.05 0.0403355 0.0437 0.0397 0.0504 0.0575 0.0072 0.04 0.05 0.04 0.07 0.0436 0.076 0.04 D 0.02 B 0.005 B 0.000 D 1.000 D 2.55 M -0.21 T -0.884 T 0.035 T 0.182 2.4 13.98 3.72 0.701 2.589 11.781 2.400068 2.400068 0.01 0.048837 0.054698 NA 0.138 NA 16.1971964 116 12 71533534 71533534 C G exonic TSPAN8 NA nonsynonymous SNV TSPAN8:NM_004616:exon4:c.G218C:p.G73A exonic ENSG00000127324 NA nonsynonymous SNV ENSG00000127324:ENST00000546561:exon3:c.G218C:p.G73A,ENSG00000127324:ENST00000247829:exon4:c.G218C:p.G73A,ENSG00000127324:ENST00000393330:exon7:c.G218C:p.G73A Score=533;Name=lod=195 NA 12q21.1 NA NA NA NA rs3763978 0.27 0.27 0.261 0.227037 0.3956 0.2847 0.2233 0.0378 0.2526 0.39 0.31 0.25 0.06 0.3332 0.41 0.01 D 0.999 D 0.989 D 0.000 D 0.000 P 3.59 H -3.52 D -1.673 T 0.000 T 0.381 3.885 19.74 5.09 2.525 4.362 16.363 3.884505 3.884505 0.08 0.41 0.109623 ID=COSM1364054;OCCURENCE=1(large_intestine) 0.225 NA 16.1945334 117 3 49737954 49737954 G A exonic RNF123 NA nonsynonymous SNV RNF123:NM_022064:exon14:c.G1160A:p.R387Q exonic ENSG00000164068 NA nonsynonymous SNV ENSG00000164068:ENST00000432042:exon11:c.G722A:p.R241Q,ENSG00000164068:ENST00000327697:exon14:c.G1160A:p.R387Q,ENSG00000164068:ENST00000457726:exon14:c.G1160A:p.R387Q Score=605;Name=lod=382 NA 3p21.31 NA Name=CTCF NA NA rs35620248 0.04 0.04 0.032 0.0223642 0.0716 0.006 0.0259 0.0068 0.0072 0.07 0.01 0.04 0.01 0.0497 0.07 0.23 T 0.999 D 0.978 D 0.001 D 1.000 D 0.695 N -0.63 T -0.697 T 0.063 T 0.383 4.095 21.1 5.4 2.529 9.053 18.147 4.095435 4.095435 0.08 0.060581 0.009759 NA 0.014 NA 16.1514524 117 14 20837033 20837033 T C exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon54:c.A7685G:p.H2562R exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000555008:exon42:c.A5692G:p.M1898V,ENSG00000129566:ENST00000556935:exon52:c.A7361G:p.H2454R,ENSG00000129566:ENST00000262715:exon54:c.A7685G:p.H2562R Score=472;Name=lod=111 NA 14q11.2 Score=731;Name=V$SEF1_C NA NA NA rs2104978 0.03 0.03 0.029 0.0345447 0.0656 0.002 0.0317 0.003 0.0808 0.07 NA 0.03 NA 0.0557 0.07 0.6 T 0.999 D 0.977 D 0.001 D 1.000 D 1.24 L 0.35 T -1.021 T 0.026 T 0.558 4.151 21.4 5.81 2.226 3.917 13.684 4.151048 4.151048 0.12 0.066279 0.014072 NA 0.014 NA 16.1457544 118 1 67518534 67518534 C T exonic SLC35D1 NA nonsynonymous SNV SLC35D1:NM_015139:exon3:c.G244A:p.A82T exonic ENSG00000116704 NA nonsynonymous SNV ENSG00000116704:ENST00000506472:exon2:c.G7A:p.A3T,ENSG00000116704:ENST00000235345:exon3:c.G244A:p.A82T Score=501;Name=lod=145 NA 1p31.3 Score=899;Name=V$TAL1ALPHAE47_01 Name=FOXA1_(SC-101058),FOXA2_(SC-6554),FOXA1_(C-20) Name=9 NA rs10157422 0.09 0.09 0.095 0.104233 0.0577 NA 0.062 0.267 0.0695 0.06 NA 0.07 0.24 0.075 0.24 0.56 T 0.402 B 0.109 B 0.000 D 0.000 P 1.935 M 0.28 T -0.903 T 0.125 T 0.443 5.022 29.6 5.05 2.342 7.390 17.161 5.022245 5.022245 0.25 0.06593 0.233999 NA 0.167 NA 16.1347034 119 2 166152389 166152389 G A exonic SCN2A NA nonsynonymous SNV SCN2A:NM_001040143:exon1:c.G56A:p.R19K,SCN2A:NM_001040142:exon2:c.G56A:p.R19K,SCN2A:NM_021007:exon2:c.G56A:p.R19K exonic ENSG00000136531 NA nonsynonymous SNV ENSG00000136531:ENST00000375427:exon1:c.G56A:p.R19K,ENSG00000136531:ENST00000283256:exon2:c.G56A:p.R19K,ENSG00000136531:ENST00000357398:exon2:c.G56A:p.R19K,ENSG00000136531:ENST00000375437:exon2:c.G56A:p.R19K,ENSG00000136531:ENST00000424833:exon2:c.G56A:p.R19K Score=785;Name=lod=2057 NA 2q24.3 Score=890;Name=V$NFKAPPAB50_01 NA NA NA rs17183814 0.07 0.07 0.054 0.0838658 0.0567 0.1379 0.0821 0.0212 0.1421 0.06 0.13 0.08 0.02 0.082 0.13 0.13 T 0.002 B 0.015 B 0.000 D 0.846 P 2.015 M -4.0 D -0.458 T 0.055 T 0.141 1.76 11.85 5.55 2.619 2.409 13.755 1.760255 1.760255 0.18 0.071628 0.033591 NA 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118260.2;CLNDSDB=.;CLNDSDBID=. 16.1230054 120 1 24409191 24409191 C T exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon17:c.G1984A:p.G662R exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon17:c.G1984A:p.G662R,ENSG00000142661:ENST00000330966:exon17:c.G1987A:p.G663R,ENSG00000142661:ENST00000374434:exon17:c.G1984A:p.G662R Score=309;Name=lod=24 NA 1p36.11 Score=794;Name=V$ARP1_01 NA NA NA rs4320729 0.32 0.32 0.274 0.256789 0.4364 0.4266 0.3213 0.0159 0.1769 0.45 0.43 0.3 0.02 0.3683 0.45 0.03 D 1.0 D 0.999 D 0.000 D 0.000 P 2.425 M 0.06 T -1.025 T 0.000 T 0.454 3.702 18.8 5.41 2.546 5.783 19.197 3.701981 3.701981 0 0.419447 0.08288 NA 0.188 NA 16.1091864 121 9 125377734 125377734 A G exonic OR1Q1 NA nonsynonymous SNV OR1Q1:NM_012364:exon1:c.A718G:p.T240A exonic ENSG00000165202 NA nonsynonymous SNV ENSG00000165202:ENST00000297913:exon1:c.A718G:p.T240A Score=464;Name=lod=103 NA 9q33.2 NA NA NA NA rs727913 0.12 0.12 0.097 0.11901 0.0646 0.3165 0.1715 0.0227 0.0644 0.06 0.27 0.14 0.03 0.1028 0.27 0 D 1.0 D 1.0 D 0.000 D 0.035 P 3.7 H 1.01 T -1.093 T 0.000 T 0.346 4.197 21.8 5.57 2.340 8.871 14.857 4.196836 4.196836 0 0.063605 0.027916 NA 0.058 NA 16.1023284 122 8 101718932 101718932 C G exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon11:c.G1549C:p.V517L exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000517990:exon1:c.G76C:p.V26L,ENSG00000070756:ENST00000522658:exon2:c.G190C:p.V64L,ENSG00000070756:ENST00000318607:exon11:c.G1549C:p.V517L,ENSG00000070756:ENST00000519004:exon12:c.G1414C:p.V472L,ENSG00000070756:ENST00000522387:exon12:c.G1453C:p.V485L Score=596;Name=lod=351 NA 8q22.3 Score=846;Name=V$MRF2_01 Name=CTCF_(SC-5916) NA NA rs62513920 NA NA 0.061 NA NA NA NA NA NA NA NA NA NA 0.2544 NA 0.32 T 0.0 B 0.003 B 0.001 D 1.000 D 1.915 M 1.01 T -1.002 T 0.128 T 0.822 5.122 32 5.3 2.658 7.233 19.321 5.122361 5.122361 0.09 NA NA NA NA NA 16.0789334 123 1 110766454 110766454 G A exonic KCNC4 NA nonsynonymous SNV KCNC4:NM_001039574:exon2:c.G1547A:p.R516Q,KCNC4:NM_004978:exon2:c.G1547A:p.R516Q exonic ENSG00000116396 NA nonsynonymous SNV ENSG00000116396:ENST00000369787:exon2:c.G1547A:p.R516Q,ENSG00000116396:ENST00000413138:exon2:c.G1547A:p.R516Q,ENSG00000116396:ENST00000438661:exon2:c.G1547A:p.R516Q,ENSG00000116396:ENST00000469655:exon2:c.G1547A:p.R516Q Score=547;Name=lod=222 NA 1p13.3 NA NA NA NA rs59123361 0.07 0.07 0.067 0.0503195 0.0924 0.0437 0.0821 0.0265 0.0235 0.09 0.06 0.08 0.03 0.0827 0.11 0.57 T 0.861 P 0.531 P 0.015 N 0.992 D 1.59 L -4.24 D 0.110 D 0.831 D 0.137 2.249 13.48 4.89 2.422 3.299 12.519 2.248558 2.248558 0.34 0.105233 0.036768 NA 0.065 NA 16.0530004 124 17 41879074 41879074 T C exonic MPP3 NA nonsynonymous SNV MPP3:NM_001932:exon20:c.A1753G:p.R585G exonic ENSG00000161647 NA nonsynonymous SNV ENSG00000161647:ENST00000398393:exon18:c.A1828G:p.R610G,ENSG00000161647:ENST00000398389:exon20:c.A1753G:p.R585G Score=437;Name=lod=80 NA 17q21.31 NA NA NA NA rs17742683 0.06 0.06 0.053 0.0676917 0.1133 0.0367 0.0764 0.0061 0.1299 0.11 0.02 0.08 0.01 0.0901 0.11 0.01 D 0.999 D 0.994 D 0.000 D 0.001 P 1.975 M 2.18 T -1.098 T 0.003 T 0.357 3.682 18.71 5.33 2.238 2.739 12.904 3.682451 3.682451 0 0.098722 0.01749 ID=COSM1579573;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.152 NA 16.0312114 124 6 75797302 75797302 C T exonic COL12A1 NA nonsynonymous SNV COL12A1:NM_080645:exon50:c.G5680A:p.G1894S,COL12A1:NM_004370:exon65:c.G9172A:p.G3058S exonic ENSG00000111799 NA nonsynonymous SNV ENSG00000111799:ENST00000425443:exon21:c.G2086A:p.G696S,ENSG00000111799:ENST00000345356:exon50:c.G5680A:p.G1894S,ENSG00000111799:ENST00000416123:exon62:c.G8944A:p.G2982S,ENSG00000111799:ENST00000322507:exon65:c.G9172A:p.G3058S,ENSG00000111799:ENST00000483888:exon65:c.G9160A:p.G3054S Score=584;Name=lod=316 NA 6q13 NA NA NA NA rs970547 0.72 0.72 0.713 0.711861 0.7744 0.6796 0.7738 0.6831 0.6759 0.77 0.68 0.79 0.65 0.7451 0.79 0.05 D 1.0 D 0.999 D 0.000 D 0.000 P 1.65 L -2.08 D 0.557 D 0.755 D 0.507 5.487 35 5.75 2.719 7.463 19.548 5.48679 5.48679 0.08 0.784281 0.659067 ID=COSM150125;OCCURENCE=1(stomach) 0.826 NA 16.0295524 125 17 4689313 4689313 G C exonic VMO1 NA nonsynonymous SNV VMO1:NM_001144939:exon2:c.C230G:p.T77S,VMO1:NM_001144940:exon2:c.C230G:p.T77S,VMO1:NM_182566:exon2:c.C230G:p.T77S exonic ENSG00000182853 NA nonsynonymous SNV ENSG00000182853:ENST00000328739:exon2:c.C230G:p.T77S,ENSG00000182853:ENST00000416307:exon2:c.C230G:p.T77S,ENSG00000182853:ENST00000441199:exon2:c.C230G:p.T77S Score=343;Name=lod=33 NA 17p13.2 NA NA NA NA rs2279961 0.11 0.11 0.097 0.0946486 0.0994 0.0992 0.1052 0.115 0.0501 0.1 0.11 0.1 0.13 0.1043 0.13 0.02 D 1.0 D 1.0 D 0.000 D 0.000 P 2.575 M 0.67 T -0.929 T 0.005 T 0.387 3.073 16.26 4.43 2.286 7.187 12.404 3.073061 3.073061 0 0.106279 0.125057 NA 0.072 NA 16.0233544 126 12 125348263 125348263 C T exonic SCARB1 NA nonsynonymous SNV SCARB1:NM_001082959:exon1:c.G4A:p.G2S,SCARB1:NM_005505:exon1:c.G4A:p.G2S exonic ENSG00000073060 NA nonsynonymous SNV ENSG00000073060:ENST00000261693:exon1:c.G4A:p.G2S,ENSG00000073060:ENST00000339570:exon1:c.G4A:p.G2S,ENSG00000073060:ENST00000376788:exon1:c.G4A:p.G2S,ENSG00000073060:ENST00000415380:exon1:c.G4A:p.G2S,ENSG00000073060:ENST00000545493:exon1:c.G4A:p.G2S,ENSG00000073060:ENST00000546215:exon1:c.G4A:p.G2S Score=371;Name=lod=43 NA 12q24.31 NA Name=AP-2alpha,Pol2-4H8,AP-2gamma,CCNT2,POU2F2,E2F6_(H-50),TAF1,E2F6,Mxi1_(bHLH),Pol2,Oct-2,Rad21 Name=138 NA rs4238001 0.08 0.08 0.101 0.0642971 0.1163 0.003 0.0994 0.0666 0.046 0.11 NA 0.1 0.09 0.1084 0.11 0.03 D 1.0 D 0.994 D 0.776 U 0.000 P 1.87 L 0.18 T -0.739 T 0.030 T 0.153 3.635 18.49 3.22 1.734 1.365 10.591 3.635365 3.635365 0 0.099133 0.052494 NA NA NA 16.0095004 127 12 48367976 48367976 C T exonic COL2A1 NA nonsynonymous SNV COL2A1:NM_033150:exon52:c.G4006A:p.G1336S,COL2A1:NM_001844:exon53:c.G4213A:p.G1405S exonic ENSG00000139219 NA nonsynonymous SNV ENSG00000139219:ENST00000337299:exon52:c.G4006A:p.G1336S,ENSG00000139219:ENST00000380518:exon53:c.G4213A:p.G1405S Score=495;Name=lod=137 NA 12q13.11 Score=846;Name=V$RFX1_01 NA NA NA rs2070739 0.2 0.2 0.16 0.170927 0.0964 0.4286 0.2896 0.0038 0.1237 0.11 0.43 0.27 0.01 0.15 0.43 0.17 T 1.0 D 0.999 D 0.000 D 0.000 P 2.835 M -0.8 T -1.115 T 0.000 T 0.497 4.51 24.2 5.06 2.500 4.064 18.380 4.509832 4.509832 0.03 0.094186 0.022242 NA 0.101 NA 15.9927474 127 7 36438709 36438709 C G exonic ANLN NA nonsynonymous SNV ANLN:NM_018685:exon3:c.C194G:p.S65W exonic ENSG00000011426 NA nonsynonymous SNV ENSG00000011426:ENST00000265748:exon3:c.C194G:p.S65W,ENSG00000011426:ENST00000396068:exon3:c.C194G:p.S65W,ENSG00000011426:ENST00000424865:exon3:c.C128G:p.S43W Score=499;Name=lod=142 NA 7p14.2 NA NA NA NA rs3735400 0.12 0.12 0.095 0.126997 0.0984 0.1806 0.1686 0.1036 0.1033 0.11 0.16 0.13 0.09 0.1307 0.16 0 D 1.0 D 0.999 D 0.000 D 0.000 P 2.255 M 3.82 T -1.035 T 0.002 T 0.425 3.481 17.81 4.59 1.453 4.346 14.312 3.481073 3.481073 0 0.113256 0.121652 ID=COSM1131590;OCCURENCE=1(prostate) 0.159 NA 15.9909774 128 1 236175327 236175327 C A exonic NID1 NA nonsynonymous SNV NID1:NM_002508:exon12:c.G2421T:p.Q807H exonic ENSG00000116962 NA nonsynonymous SNV ENSG00000116962:ENST00000264187:exon12:c.G2421T:p.Q807H Score=479;Name=lod=118 NA 1q42.3 Score=787;Name=V$PPARG_03 NA Name=6 NA rs3738531 0.16 0.16 0.14 0.194489 0.0885 0.2589 0.3127 0.1104 0.2669 0.08 0.26 0.23 0.12 0.1655 0.26 0.11 T 0.953 P 0.895 P 0.000 D 0.000 P 1.15 L -1.77 D -1.131 T 0.000 T 0.15 3.082 16.29 3.58 1.425 1.145 9.729 3.081801 3.081801 NA 0.098372 0.110077 NA 0.145 NA 15.9809614 129 5 162896650 162896650 C T exonic HMMR NA nonsynonymous SNV HMMR:NM_001142557:exon2:c.C16T:p.R6C,HMMR:NM_012485:exon4:c.C229T:p.R77C,HMMR:NM_001142556:exon5:c.C277T:p.R93C,HMMR:NM_012484:exon5:c.C274T:p.R92C exonic ENSG00000072571 NA nonsynonymous SNV ENSG00000072571:ENST00000432118:exon2:c.C16T:p.R6C,ENSG00000072571:ENST00000353866:exon4:c.C229T:p.R77C,ENSG00000072571:ENST00000358715:exon5:c.C274T:p.R92C,ENSG00000072571:ENST00000393915:exon5:c.C277T:p.R93C Score=363;Name=lod=40 NA 5q34 NA NA NA NA rs299284 0.08 0.08 0.09 0.0746805 0.1402 0.0119 0.0663 0.0688 0.0859 0.14 0.01 0.08 0.08 0.1037 0.14 0.02 D 1.0 D 0.983 D 0.000 D 0.000 P 2.135 M 1.36 T -0.881 T 0.013 T 0.535 4.458 23.8 5.31 1.626 5.623 15.756 4.457728 4.457728 0.01 0.117674 0.088743 NA 0.087 NA 15.9717594 130 11 4945199 4945199 C T exonic OR51G1 NA nonsynonymous SNV OR51G1:NM_001005237:exon1:c.G371A:p.R124H exonic ENSG00000176879 NA nonsynonymous SNV ENSG00000176879:ENST00000321961:exon1:c.G371A:p.R124H Score=371;Name=lod=43 NA 11p15.4 Score=820;Name=V$HNF4_01_B NA NA NA rs34742470 0.08 0.08 0.063 0.0489217 0.1441 NA 0.0937 0.0144 0.0164 0.14 NA 0.13 0.02 0.0937 0.14 0.01 D 1.0 D 0.996 D 0.001 U 0.000 P 3.33 M -1.1 T -0.687 T 0.016 T 0.106 2.662 14.86 3.3 0.988 2.992 11.045 2.66219 2.66219 0.02 0.132271 0.036801 NA 0.123 NA 15.9632624 130 2 43732823 43732823 T C exonic THADA NA nonsynonymous SNV THADA:NM_001083953:exon24:c.A3559G:p.T1187A,THADA:NM_022065:exon24:c.A3559G:p.T1187A exonic ENSG00000115970 NA nonsynonymous SNV ENSG00000115970:ENST00000330266:exon15:c.A2689G:p.T897A,ENSG00000115970:ENST00000405006:exon24:c.A3559G:p.T1187A,ENSG00000115970:ENST00000405975:exon24:c.A3559G:p.T1187A,ENSG00000115970:ENST00000415080:exon24:c.A2689G:p.T897A Score=549;Name=lod=228 Name=Type 2 diabetes 2p21 Score=934;Name=V$SOX5_01 NA NA NA rs7578597 0.12 0.12 0.137 0.137181 0.0905 0.006 0.0749 0.3094 0.1319 0.09 0.01 0.07 0.34 0.1733 0.34 0.11 T 1.0 D 0.998 D 0.000 D 0.000 P 1.045 L 1.15 T -0.995 T 0.000 T 0.434 3.099 16.35 5.54 2.323 4.611 14.795 3.099337 3.099337 0.12 0.109738 0.260215 NA 0.152 NA 15.9597954 131 16 55862883 55862883 C A exonic CES1 NA nonsynonymous SNV CES1:NM_001025194:exon2:c.G53T:p.G18V,CES1:NM_001025195:exon2:c.G56T:p.G19V,CES1:NM_001266:exon2:c.G53T:p.G18V exonic ENSG00000198848 NA nonsynonymous SNV ENSG00000198848:ENST00000360526:exon2:c.G56T:p.G19V,ENSG00000198848:ENST00000361503:exon2:c.G53T:p.G18V,ENSG00000198848:ENST00000422046:exon2:c.G53T:p.G18V Score=251;Name=lod=14 NA 16q12.2 NA NA NA NA rs3826190 0.37 0.37 0.32 NA NA NA NA NA NA 0.44 0.2 0.39 0.45 0.3912 0.45 0.01 D 0.992 D 0.969 D 0.000 N 1.000 D 1.96 M -0.17 T -0.842 T 0.000 T 0.599 3.604 18.35 3.52 2.051 1.881 9.530 3.604104 3.604104 0 NA NA ID=COSM1128928;OCCURENCE=1(prostate) 0.007 NA 15.9421334 132 9 132580901 132580901 C G exonic TOR1A NA nonsynonymous SNV TOR1A:NM_000113:exon4:c.G646C:p.D216H exonic ENSG00000136827 NA nonsynonymous SNV ENSG00000136827:ENST00000351698:exon4:c.G646C:p.D216H Score=391;Name=lod=52 NA 9q34.11 NA NA NA NA rs1801968 0.08 0.08 0.082 0.0836661 0.1382 0.0556 0.1095 0.0023 0.1483 0.15 0.05 0.07 0.01 0.1228 0.15 0.02 D 0.904 P 0.615 P 0.000 D 0.039 P 1.935 M 1.0 T -1.035 T 0.001 T 0.374 3.635 18.49 5.17 1.557 1.255 9.879 3.634709 3.634709 0.01 0.139884 0.027463 NA 0.051 CLINSIG=other|pathogenic;CLNDBN=Dystonia_1\x2c_torsion\x2c_modifier_of|Dystonia_1;CLNREVSTAT=single|single;CLNACC=RCV000005490.3|RCV000020122.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=.|NBK1492:C1851945:128100:ORPHA256 15.9324494 133 19 11526765 11526765 G T exonic RGL3 NA nonsynonymous SNV RGL3:NM_001035223:exon5:c.C485A:p.P162H,RGL3:NM_001161616:exon5:c.C485A:p.P162H exonic ENSG00000205517 NA nonsynonymous SNV ENSG00000205517:ENST00000567431:exon4:c.C377A:p.P126H,ENSG00000205517:ENST00000380456:exon5:c.C485A:p.P162H,ENSG00000205517:ENST00000393423:exon5:c.C485A:p.P162H,ENSG00000205517:ENST00000567080:exon5:c.C451A:p.P151T Score=417;Name=lod=66 NA 19p13.2 Score=863;Name=V$STAT5A_01 NA NA NA rs167479 0.4 0.4 0.362 0.445687 0.4602 0.4782 0.5476 0.1861 0.6759 0.45 0.46 0.52 0.17 0.4952 0.52 0 D 1.0 D 0.993 D 0.000 D 0.046 P 2.215 M 1.54 T -0.901 T 0.000 T 0.292 3.842 19.51 3.81 0.990 3.633 13.199 3.8419 3.8419 0 0.485 0.235134 NA 0.355 NA 15.8929334 133 19 19413092 19413092 C T exonic SUGP1 NA nonsynonymous SNV SUGP1:NM_172231:exon7:c.G869A:p.R290H exonic ENSG00000105705 NA nonsynonymous SNV ENSG00000105705:ENST00000247001:exon7:c.G869A:p.R290H Score=509;Name=lod=156 NA 19p13.11 Score=715;Name=V$NRSF_01 NA NA NA rs17751061 0.07 0.07 0.074 0.0688898 0.164 NA 0.1037 0.0061 0.1022 0.15 NA 0.12 0.01 0.1197 0.16 0.06 T 1.0 D 0.999 D 0.000 D 0.000 P 2.28 M 0.93 T -1.154 T 0.002 T 0.581 4.974 29.1 5.03 2.350 5.788 16.924 4.97375 4.97375 0.01 0.158023 0.030413 NA 0.08 NA 15.8916104 134 6 133789728 133789728 G A exonic EYA4 NA nonsynonymous SNV EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S exonic ENSG00000112319 NA nonsynonymous SNV ENSG00000112319:ENST00000430974:exon9:c.G667A:p.G223S,ENSG00000112319:ENST00000355286:exon10:c.G760A:p.G254S,ENSG00000112319:ENST00000431403:exon10:c.G829A:p.G277S,ENSG00000112319:ENST00000452339:exon10:c.G667A:p.G223S,ENSG00000112319:ENST00000525849:exon10:c.G760A:p.G254S,ENSG00000112319:ENST00000355167:exon11:c.G829A:p.G277S,ENSG00000112319:ENST00000367895:exon11:c.G829A:p.G277S,ENSG00000112319:ENST00000531901:exon11:c.G829A:p.G277S Score=617;Name=lod=430 NA 6q23.2 NA NA NA NA rs9493627 0.39 0.39 0.378 0.409545 0.3111 0.3442 0.3429 0.5688 0.41 0.31 0.38 0.33 0.57 0.3417 0.57 0.42 T 0.969 D 0.868 P 0.000 D 0.000 P 1.535 L -1.69 D -0.202 T 0.533 D 0.599 5.55 35 5.49 2.739 9.420 19.744 5.550184 5.550184 0.09 0.312791 0.519973 NA 0.5 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037882.1;CLNDSDB=.;CLNDSDBID=. 15.8677424 134 15 74219546 74219546 G T exonic LOXL1 NA nonsynonymous SNV LOXL1:NM_005576:exon1:c.G422T:p.R141L exonic ENSG00000129038 NA nonsynonymous SNV ENSG00000129038:ENST00000261921:exon1:c.G422T:p.R141L,ENSG00000129038:ENST00000566011:exon1:c.G422T:p.R141L Score=614;Name=lod=419 NA 15q24.1 Score=835;Name=V$AHRARNT_01 Name=Pol2,c-Myc Name=31 NA rs1048661 0.32 0.32 0.317 0.311302 0.3201 0.5179 0.3055 0.1536 0.3067 0.32 0.51 0.27 0.13 0.3374 0.51 0.01 D 0.914 P 0.325 B 0.366 N 0.292 P 1.67 L 1.6 T -0.911 T 0.000 T 0.414 4.335 22.8 4.1 1.818 2.792 13.824 4.334587 4.334587 0 0.309667 0.160208 NA 0.007 CLINSIG=other;CLNDBN=Exfoliation_syndrome\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000015434.1;CLNDSDB=.;CLNDSDBID=. 15.8661664 135 9 38396002 38396002 C T exonic ALDH1B1 NA nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.C257T:p.A86V exonic ENSG00000137124 NA nonsynonymous SNV ENSG00000137124:ENST00000377698:exon2:c.C257T:p.A86V Score=457;Name=lod=96 NA 9p13.2 NA NA NA NA rs2228093 0.22 0.22 0.187 0.230431 0.1511 0.3929 0.2853 0.0809 0.3078 0.15 0.4 0.25 0.11 0.1851 0.4 0 D 1.0 D 0.996 D 0.000 D 0.000 P 3.07 M 1.73 T -1.015 T 0.000 T 0.221 4.857 27.7 5.51 2.598 7.201 16.901 4.856835 4.856835 0 0.132907 0.107127 NA 0.123 NA 15.8642264 136 2 1168781 1168781 C A exonic SNTG2 NA nonsynonymous SNV SNTG2:NM_018968:exon8:c.C503A:p.S168Y exonic ENSG00000172554 NA nonsynonymous SNV ENSG00000172554:ENST00000308624:exon8:c.C503A:p.S168Y Score=472;Name=lod=111 NA 2p25.3 NA NA NA NA rs28505970 0.18 0.18 0.191 0.20627 0.169 0.1042 0.098 0.3608 0.2178 0.17 0.1 0.1 0.35 0.1629 0.35 0.02 D 0.999 D 0.996 D 0.000 D 0.000 P 2.2 M 0.55 T -1.085 T 0.000 T 0.14 2.55 14.49 4.58 2.067 4.969 15.167 2.550271 2.550271 0.02 0.150754 0.301595 ID=COSM148791;OCCURENCE=1(stomach) 0.254 NA 15.8506794 136 3 183861243 183861243 A G exonic EIF2B5 NA nonsynonymous SNV EIF2B5:NM_003907:exon13:c.A1759G:p.I587V exonic ENSG00000145191 NA nonsynonymous SNV ENSG00000145191:ENST00000273783:exon13:c.A1759G:p.I587V,ENSG00000145191:ENST00000444495:exon13:c.A1759G:p.I587V Score=627;Name=lod=471 NA 3q27.1 NA Name=USF2,USF-1,NFKB Name=6 NA rs843358 0.37 0.37 0.353 0.389976 0.3042 0.5288 0.3646 0.3268 0.4387 0.29 0.53 0.34 0.33 0.3498 0.53 1 T 0.591 P 0.163 B 0.000 D 0.000 P 1.385 L -1.55 D -0.973 T 0.000 T 0.256 1.988 12.6 5.72 2.183 5.214 16.015 1.988085 1.988085 0.14 0.328721 0.327054 NA 0.275 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080353.3;CLNDSDB=.;CLNDSDBID=. 15.8506124 136 15 40308859 40308859 G T exonic EIF2AK4 NA nonsynonymous SNV EIF2AK4:NM_001013703:exon28:c.G3916T:p.G1306C exonic ENSG00000128829 NA nonsynonymous SNV ENSG00000128829:ENST00000382727:exon27:c.G3832T:p.G1278C,ENSG00000128829:ENST00000263791:exon28:c.G3916T:p.G1306C Score=504;Name=lod=149 NA 15q15.1 NA NA Name=59 NA rs35602605 0.09 0.09 0.075 0.0698882 0.1769 0.006 0.0965 0.0234 0.0695 0.18 0.01 0.1 0.03 0.1306 0.18 0.08 T 1.0 D 0.995 D 0.000 D 0.000 P 2.265 M 1.18 T -1.223 T 0.001 T 0.383 4.234 22 5.52 2.751 7.807 19.818 4.23406 4.23406 0 0.177505 0.050449 NA 0.072 NA 15.8483284 136 17 45234417 45234417 A G exonic CDC27 NA nonsynonymous SNV CDC27:NM_001114091:exon7:c.T704C:p.I235T,CDC27:NM_001256:exon7:c.T704C:p.I235T exonic ENSG00000004897 NA nonsynonymous SNV ENSG00000004897:ENST00000446365:exon6:c.T521C:p.I174T,ENSG00000004897:ENST00000066544:exon7:c.T704C:p.I235T,ENSG00000004897:ENST00000526866:exon7:c.T704C:p.I235T,ENSG00000004897:ENST00000527547:exon7:c.T704C:p.I235T,ENSG00000004897:ENST00000531206:exon7:c.T704C:p.I235T Score=731;Name=lod=1246 NA 17q21.32 Score=790;Name=V$GFI1_01 Name=HDAC2_(SC-6296),GATA-2,HA-E2F1,YY1,TAL1_(SC-12984),ZZZ3,EBF,BRF2,Pol2(b),ZNF274,TBP,Nrf1,SETDB1,MafK_(ab50322),IRF3,NFKB,SUZ12,TR4,TAF7_(SQ-8),SMC3_(ab9263),Mxi1_(bHLH),PU.1,BDP1,RPC155,ZBTB33,CTCFL_(SC-98982),p300_(F-4),TAF1,RXRA,GTF2F1_(RAP-74),CHD2_(N-1250),p300,CTCF,BRF1,STAT1 Name=145 NA rs193061947 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4881 NA 0.56 T 0.131 B 0.046 B 0.000 D 1.000 D 0.695 N 0.81 T -0.916 T 0.162 T 0.93 3.169 16.6 5.44 2.066 8.754 13.444 3.168932 3.168932 0.01 NA NA NA NA NA 15.8452334 137 6 136582417 136582417 G A exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon11:c.C2590T:p.R864C,BCLAF1:NM_001077441:exon12:c.C2224T:p.R742C,BCLAF1:NM_014739:exon12:c.C2743T:p.R915C exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000031135:exon4:c.C397T:p.R133C,ENSG00000029363:ENST00000392348:exon9:c.C2590T:p.R864C,ENSG00000029363:ENST00000353331:exon11:c.C2590T:p.R864C,ENSG00000029363:ENST00000527536:exon11:c.C2596T:p.R866C,ENSG00000029363:ENST00000527759:exon12:c.C2737T:p.R913C,ENSG00000029363:ENST00000530767:exon12:c.C2224T:p.R742C,ENSG00000029363:ENST00000531224:exon12:c.C2743T:p.R915C Score=733;Name=lod=1274 NA 6q23.3 NA NA NA NA rs62431283 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA 0.4925 NA 0.04 D 1.0 D 0.997 D 0.000 D 1.000 D 0 N 4.26 T -0.997 T 0.084 T 0.875 2.705 15.01 5.71 2.691 5.363 18.034 2.70494 2.70494 0.03 NA NA NA NA NA 15.8408334 137 9 286593 286593 C A exonic DOCK8 NA nonsynonymous SNV DOCK8:NM_001190458:exon2:c.C85A:p.P29T,DOCK8:NM_001193536:exon2:c.C85A:p.P29T,DOCK8:NM_203447:exon3:c.C289A:p.P97T exonic ENSG00000107099 NA nonsynonymous SNV ENSG00000107099:ENST00000469391:exon2:c.C85A:p.P29T,ENSG00000107099:ENST00000483757:exon2:c.C85A:p.P29T,ENSG00000107099:ENST00000432829:exon3:c.C85A:p.P29T,ENSG00000107099:ENST00000453981:exon3:c.C289A:p.P97T,ENSG00000107099:ENST00000479404:exon3:c.C85A:p.P29T,ENSG00000107099:ENST00000487230:exon3:c.C85A:p.P29T Score=556;Name=lod=242 NA 9p24.3 NA NA Name=2 NA rs529208 0.52 0.52 0.502 0.529752 0.4841 0.7212 0.5231 0.3918 0.5706 0.47 0.72 0.51 0.39 0.5206 0.72 0.05 D 0.996 D 0.978 D 0.000 D 0.000 P 2.085 M 0.72 T -0.961 T 0.000 T 0.443 3.734 18.96 4.57 1.315 3.149 9.993 3.734202 3.734202 0.08 0.489884 0.414208 NA 0.442 NA 15.8387494 137 17 21319230 21319230 G C exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.G576C:p.Q192H,KCNJ12:NM_021012:exon3:c.G576C:p.Q192H exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G576C:p.Q192H,ENSG00000184185:ENST00000583088:exon3:c.G576C:p.Q192H Score=512;Name=lod=161 NA 17p11.2 NA NA NA NA rs1657742 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4975 0.28 0.03 D 0.004 B 0.009 B 0.000 N 0.998 D 1.6 L -3.38 D 0.178 D 0.691 D 0.731 1.781 11.91 5.32 2.496 2.586 9.678 1.781011 1.781011 0.06 NA NA ID=COSM436189;OCCURENCE=1(breast) 0.254 NA 15.8358334 137 6 136582497 136582497 G T exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon11:c.C2510A:p.T837N,BCLAF1:NM_001077441:exon12:c.C2144A:p.T715N,BCLAF1:NM_014739:exon12:c.C2663A:p.T888N exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000031135:exon4:c.C317A:p.T106N,ENSG00000029363:ENST00000392348:exon9:c.C2510A:p.T837N,ENSG00000029363:ENST00000353331:exon11:c.C2510A:p.T837N,ENSG00000029363:ENST00000527536:exon11:c.C2516A:p.T839N,ENSG00000029363:ENST00000527759:exon12:c.C2657A:p.T886N,ENSG00000029363:ENST00000530767:exon12:c.C2144A:p.T715N,ENSG00000029363:ENST00000531224:exon12:c.C2663A:p.T888N Score=733;Name=lod=1274 NA 6q23.3 Score=879;Name=V$YY1_01 NA NA NA rs62431284 NA NA 0.052 NA NA NA NA NA NA NA NA NA NA 0.4976 0.011 0.06 T 1.0 D 0.999 D 0.001 D 1.000 D 0.46 N 4.32 T -0.818 T 0.147 T 0.491 3.988 20.4 5.5 2.581 8.020 19.396 3.987729 3.987729 0.02 NA NA NA 0.014 NA 15.8357334 138 6 136599822 136599822 C G exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon4:c.G191C:p.G64A,BCLAF1:NM_001077441:exon4:c.G197C:p.G66A,BCLAF1:NM_014739:exon4:c.G197C:p.G66A exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon2:c.G191C:p.G64A,ENSG00000029363:ENST00000353331:exon4:c.G191C:p.G64A,ENSG00000029363:ENST00000527536:exon4:c.G197C:p.G66A,ENSG00000029363:ENST00000527613:exon4:c.G197C:p.G66A,ENSG00000029363:ENST00000527759:exon4:c.G191C:p.G64A,ENSG00000029363:ENST00000529826:exon4:c.G197C:p.G66A,ENSG00000029363:ENST00000530429:exon4:c.G191C:p.G64A,ENSG00000029363:ENST00000530767:exon4:c.G197C:p.G66A,ENSG00000029363:ENST00000531224:exon4:c.G197C:p.G66A,ENSG00000029363:ENST00000532384:exon4:c.G197C:p.G66A,ENSG00000029363:ENST00000534269:exon4:c.G191C:p.G64A Score=741;Name=lod=1365 NA 6q23.3 Score=877;Name=V$TST1_01 NA Name=2 NA rs9942517 0.5 0.5 0.46 0 NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 0.09 T 0.999 D 0.992 D 0.000 D 0.000 P 1.79 L 0.12 T -0.334 T 0.400 T 0.91 3.166 16.59 5.64 2.660 5.655 19.699 3.165888 3.165888 0 NA NA NA 0.5 NA 15.8334334 138 1 144918957 144918957 T A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon6:c.A1718T:p.E573V,PDE4DIP:NM_001002812:exon10:c.A1229T:p.E410V,PDE4DIP:NM_001198834:exon10:c.A1229T:p.E410V,PDE4DIP:NM_014644:exon10:c.A1229T:p.E410V,PDE4DIP:NM_001198832:exon13:c.A1427T:p.E476V exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon6:c.A1718T:p.E573V,ENSG00000178104:ENST00000479408:exon6:c.A590T:p.E197V,ENSG00000178104:ENST00000529945:exon6:c.A1718T:p.E573V,ENSG00000178104:ENST00000369349:exon10:c.A1229T:p.E410V,ENSG00000178104:ENST00000369351:exon10:c.A1229T:p.E410V,ENSG00000178104:ENST00000369354:exon10:c.A1229T:p.E410V,ENSG00000178104:ENST00000369356:exon10:c.A1229T:p.E410V,ENSG00000178104:ENST00000313382:exon13:c.A1427T:p.E476V,ENSG00000178104:ENST00000369359:exon13:c.A1640T:p.E547V,ENSG00000178104:ENST00000530740:exon13:c.A1640T:p.E547V Score=393;Name=lod=53 NA 1q21.1 NA NA NA NA rs1061308 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0 D 1.0 D 0.998 D . . 1.000 D 1.935 M 4.41 T -1.092 T 0.075 T 0.591 4.482 24 5.64 2.144 6.310 13.796 4.482075 4.482075 0 NA NA NA 0.5 NA 15.8333334 138 10 82363337 82363337 C T exonic SH2D4B NA nonsynonymous SNV SH2D4B:NM_001145719:exon5:c.C499T:p.R167C,SH2D4B:NM_207372:exon5:c.C646T:p.R216C exonic ENSG00000178217 NA nonsynonymous SNV ENSG00000178217:ENST00000313455:exon5:c.C499T:p.R167C,ENSG00000178217:ENST00000339284:exon5:c.C646T:p.R216C,ENSG00000178217:ENST00000470604:exon5:c.C643T:p.R215C Score=361;Name=lod=39 NA 10q23.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA 0.05 D 0.581 P 0.123 B 0.000 N 1.000 D 2.24 M 1.97 T -1.087 T 0.059 T 0.554 3.44 17.64 5.12 1.567 3.181 12.934 3.43968 3.43968 0.08 NA NA NA NA NA 15.8333334 138 11 48346932 48346932 G A exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.G440A:p.R147H exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.G440A:p.R147H Score=557;Name=lod=244 NA 11p11.2 Score=740;Name=V$PPARG_01 NA NA NA rs80285195 NA NA NA 0.00279553 NA NA 0.0014 0.0068 0.0041 NA NA NA NA 0.5 0.21 0.03 D 0.007 B 0.013 B 0.002 N 0.999 D 3.42 M -1.1 T -0.029 T 0.547 D 0.359 3.598 18.32 5.78 2.782 6.507 17.680 3.598179 3.598179 0.06 NA NA NA 0.196 NA 15.8333334 138 1 36755247 36755247 G A exonic THRAP3 NA nonsynonymous SNV THRAP3:NM_005119:exon5:c.G1627A:p.E543K exonic ENSG00000054118 NA nonsynonymous SNV ENSG00000054118:ENST00000354618:exon5:c.G1627A:p.E543K,ENSG00000054118:ENST00000469141:exon6:c.G1627A:p.E543K Score=512;Name=lod=160 NA 1p34.3 Score=739;Name=V$SEF1_C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000083 NA 0.08 T 0.486 P 0.356 B 0.000 D 1.000 D 1.525 L 2.55 T -1.178 T 0.052 T 0.491 3.876 19.69 6.06 2.882 7.827 19.609 3.875563 3.875563 0.01 NA NA NA NA NA 15.8333251 138 14 105413326 105413326 G A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C8462T:p.P2821L exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C8462T:p.P2821L Score=431;Name=lod=75 NA 14q32.33 NA NA NA NA rs369899617 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004142 0.0003 0.01 D 0.998 D 0.827 P . . 1.000 D 3.64 H 4.6 T -0.969 T 0.038 T 0.287 2.279 13.58 3.64 1.581 4.333 14.976 2.278753 2.278753 0 0 0.000254 ID=COSM953891;OCCURENCE=1(endometrium) NA NA 15.833292 138 10 5011081 5011081 A T exonic AKR1C1 NA nonsynonymous SNV AKR1C1:NM_001353:exon5:c.A515T:p.Q172L exonic ENSG00000187134 NA nonsynonymous SNV ENSG00000187134:ENST00000380859:exon5:c.A521T:p.Q174L,ENSG00000187134:ENST00000380872:exon5:c.A515T:p.Q172L,ENSG00000187134:ENST00000434459:exon10:c.A515T:p.Q172L Score=487;Name=lod=127 NA 10p15.1 Score=959;Name=V$MYOD_Q6 Name=Pol2 NA NA rs11474 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006589 NA 0.05 D 0.111 B 0.448 P 0.006 N 0.999 D 1.405 L 1.79 T -0.913 T 0.178 T 0.699 1.79 11.95 2.1 1.209 4.413 8.103 1.79043 1.79043 0.04 NA NA NA NA NA 15.8332675 138 12 56629033 56629033 C T exonic SLC39A5 NA nonsynonymous SNV SLC39A5:NM_001135195:exon5:c.C727T:p.R243W,SLC39A5:NM_173596:exon7:c.C727T:p.R243W exonic ENSG00000139540 NA nonsynonymous SNV ENSG00000139540:ENST00000266980:exon5:c.C727T:p.R243W,ENSG00000139540:ENST00000436633:exon7:c.C640T:p.R214W,ENSG00000139540:ENST00000454355:exon7:c.C727T:p.R243W Score=615;Name=lod=421 NA 12q13.3 NA NA NA NA rs147133811 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00008886 0.0007 0 D 0.998 D 0.88 P 0.008 N 0.994 D 2.18 M 0.74 T -0.148 T 0.388 T 0.478 3.387 17.43 4.44 2.420 3.808 16.703 3.38651 3.38651 0 0 0.000681 NA NA NA 15.8332445 138 1 232942679 232942679 T C exonic MAP10 NA nonsynonymous SNV MAP10:NM_019090:exon1:c.T1910C:p.L637P exonic ENSG00000212916 NA nonsynonymous SNV ENSG00000212916:ENST00000418460:exon1:c.T1910C:p.L637P Score=265;Name=lod=16 NA 1q42.2 NA NA NA NA rs202096626 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0005 0.0006 0 D 0.998 D 0.9 P 0.008 U 1.000 D 2.175 M . . -0.370 T 0.324 T 0.948 3.052 16.19 4.87 2.291 4.898 11.556 3.051735 3.051735 0 0.000613 0 NA NA NA 15.8322204 138 1 36553609 36553609 G A exonic TEKT2 NA nonsynonymous SNV TEKT2:NM_014466:exon10:c.G1115A:p.R372Q exonic ENSG00000092850 NA nonsynonymous SNV ENSG00000092850:ENST00000207457:exon10:c.G1115A:p.R372Q Score=539;Name=lod=207 NA 1p34.3 NA Name=Max Name=5 NA rs141119805 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0007 0.39 T 0.997 D 0.728 P 0.003 N 0.987 D 1.305 L 4.31 T -0.823 T 0.017 T 0.348 4.411 23.4 4.95 2.266 2.984 17.793 4.411327 4.411327 0.59 0.000698 0 NA NA NA 15.8319354 138 17 44249199 44249199 T G exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon2:c.A311C:p.K104T,KANSL1:NM_015443:exon2:c.A311C:p.K104T,KANSL1:NM_001193465:exon3:c.A311C:p.K104T exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000432791:exon1:c.A311C:p.K104T,ENSG00000120071:ENST00000575318:exon1:c.A311C:p.K104T,ENSG00000120071:ENST00000262419:exon2:c.A311C:p.K104T,ENSG00000120071:ENST00000571698:exon2:c.A311C:p.K104T,ENSG00000120071:ENST00000572904:exon2:c.A311C:p.K104T,ENSG00000120071:ENST00000574590:exon2:c.A311C:p.K104T,ENSG00000120071:ENST00000574655:exon3:c.A311C:p.K104T Score=827;Name=lod=3069 NA 17q21.31 NA NA NA NA rs17585974 0.1 0.1 0.081 0.0726837 0.1998 0.001 0.1398 0.0113 0.0511 0.19 0.0017 0.16 0.02 0.1204 0.19 0 D 0.999 D 0.996 D 0.000 D 1.000 D 0.895 L 1.73 T -1.162 T 0.000 T 0.655 3.414 17.53 5.87 2.244 6.677 13.665 3.413865 3.413865 0 0.183256 0.038357 NA 0.051 NA 15.8298774 138 17 39633354 39633354 C T exonic KRT35 NA nonsynonymous SNV KRT35:NM_002280:exon7:c.G1322A:p.C441Y exonic ENSG00000197079 NA nonsynonymous SNV ENSG00000197079:ENST00000246639:exon7:c.G1232A:p.C411Y,ENSG00000197079:ENST00000393989:exon7:c.G1322A:p.C441Y Score=378;Name=lod=46 NA 17q21.2 Score=834;Name=V$CHOP_01 NA NA NA rs12451652 0.17 0.17 0.156 0.173922 0.172 0.2956 0.1225 0.0741 0.2219 0.17 0.29 0.14 0.07 0.1635 0.29 0.01 D 0.011 B 0.022 B 0.000 D 0.163 P 2.685 M -1.6 D -1.060 T 0.000 T 0.221 2.096 12.96 4.43 1.496 1.906 11.993 2.095527 2.095527 0 0.169251 0.090627 NA 0.123 NA 15.8285824 138 14 91357007 91357007 C T exonic RPS6KA5 NA nonsynonymous SNV RPS6KA5:NM_004755:exon14:c.G1660A:p.D554N exonic ENSG00000100784 NA nonsynonymous SNV ENSG00000100784:ENST00000261991:exon14:c.G1660A:p.D554N,ENSG00000100784:ENST00000536315:exon14:c.G1423A:p.D475N Score=563;Name=lod=258 NA 14q32.11 NA NA NA NA rs55911249 0.0005 0.0005 0.001 0.000998403 0.002 NA 0.0043 NA NA NA NA 0.0028 NA 0.0021 0.0028 0.04 D 0.994 D 0.831 P 0.000 D 1.000 D 1.005 L -0.08 T -0.481 T 0.300 T 0.135 5 29.4 5.45 2.535 7.780 19.284 4.999614 4.999614 0.08 0.001977 0.000681 NA NA NA 15.8272564 138 15 74219582 74219582 G A exonic LOXL1 NA nonsynonymous SNV LOXL1:NM_005576:exon1:c.G458A:p.G153D exonic ENSG00000129038 NA nonsynonymous SNV ENSG00000129038:ENST00000261921:exon1:c.G458A:p.G153D,ENSG00000129038:ENST00000566011:exon1:c.G458A:p.G153D Score=614;Name=lod=419 Name=Glaucoma (exfoliation) 15q24.1 Score=929;Name=V$ZIC3_01 Name=Pol2,c-Myc Name=31 NA rs3825942 0.22 0.22 0.204 0.247604 0.1769 0.1399 0.1686 0.41 0.2679 0.18 0.14 0.2 0.41 0.1849 0.41 0.2 T 0.001 B 0.002 B 0.007 N 0.012 P 1.245 L 1.43 T -0.936 T 0.000 T 0.385 3.674 18.67 3.17 1.818 2.700 5.508 3.673592 3.673592 0 0.145302 0.36097 NA 0.007 CLINSIG=other;CLNDBN=Exfoliation_syndrome\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000015435.1;CLNDSDB=.;CLNDSDBID=. 15.8262314 139 11 58170712 58170712 C T exonic OR5B3 NA nonsynonymous SNV OR5B3:NM_001005469:exon1:c.G171A:p.M57I exonic ENSG00000172769 NA nonsynonymous SNV ENSG00000172769:ENST00000309403:exon1:c.G171A:p.M57I Score=468;Name=lod=106 NA 11q12.1 NA NA NA NA rs138976101 0.0027 0.0027 0.003 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0029 0.01 0 D 0.98 D 0.782 P 0.016 N 0.998 D 3.945 H 2.99 T -0.705 T 0.084 T 0.412 3.179 16.64 4.19 2.338 4.651 15.583 3.17872 3.17872 0 0.005122 0.001817 NA NA NA 15.8203114 140 10 73055607 73055607 G A exonic UNC5B NA nonsynonymous SNV UNC5B:NM_001244889:exon13:c.G2182A:p.V728M,UNC5B:NM_170744:exon14:c.G2215A:p.V739M exonic ENSG00000107731 NA nonsynonymous SNV ENSG00000107731:ENST00000373192:exon13:c.G2182A:p.V728M,ENSG00000107731:ENST00000335350:exon14:c.G2215A:p.V739M Score=613;Name=lod=412 NA 10q22.1 Score=885;Name=V$ZID_01 NA NA NA rs61749231 0.0037 0.0037 NA 0.00319489 0.006 NA 0.0086 NA 0.0041 0.004 NA 0.01 NA 0.0044 0.01 0.04 D 0.934 P 0.208 B 0.000 D 0.989 D 0.55 N 0.85 T -1.066 T 0.048 T 0.207 2.069 12.87 3.76 2.437 1.640 9.707 2.068509 2.068509 0.05 0.008605 0.001589 NA 0.007 NA 15.8143284 140 1 216108128 216108128 T C exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon38:c.A7130G:p.N2377S exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon38:c.A7130G:p.N2377S,ENSG00000042781:ENST00000366943:exon38:c.A7130G:p.N2377S Score=374;Name=lod=44 NA 1q41 NA NA NA NA rs111033394 0.0041 0.0041 NA 0.00299521 0.0119 NA 0.0043 NA NA 0.01 NA 0.0028 NA 0.0038 0.01 0.3 T 0.919 P 0.375 B 0.000 D 1.000 D 2.125 M 2.71 T -0.994 T 0.031 T 0.111 3.126 16.45 5.81 2.210 3.793 12.071 3.125586 3.125586 0.09 0.004537 0.00227 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041903.1;CLNDSDB=.;CLNDSDBID=. 15.8130964 140 10 90429652 90429652 A G exonic LIPF NA nonsynonymous SNV LIPF:NM_001198828:exon5:c.A382G:p.T128A,LIPF:NM_004190:exon5:c.A481G:p.T161A,LIPF:NM_001198829:exon6:c.A511G:p.T171A,LIPF:NM_001198830:exon6:c.A412G:p.T138A exonic ENSG00000182333 NA nonsynonymous SNV ENSG00000182333:ENST00000238983:exon5:c.A481G:p.T161A,ENSG00000182333:ENST00000355843:exon6:c.A382G:p.T128A,ENSG00000182333:ENST00000394375:exon6:c.A511G:p.T171A Score=374;Name=lod=44 NA 10q23.31 NA NA NA NA rs814628 0.17 0.17 0.161 0.167931 0.174 0.3056 0.2046 0.0098 0.2076 0.18 0.31 0.16 0.01 0.1759 0.31 0 D 0.995 D 0.954 D 0.000 D 0.000 P 3.805 H 0.06 T -1.153 T 0.000 T 0.43 3.665 18.63 5.24 2.194 8.620 14.264 3.665012 3.665012 0.01 0.175581 0.045166 NA 0.087 NA 15.8078524 140 10 81372166 81372166 C G exonic SFTPA1 NA nonsynonymous SNV SFTPA1:NM_001164647:exon3:c.C271G:p.P91A,SFTPA1:NM_001093770:exon4:c.C316G:p.P106A,SFTPA1:NM_001164644:exon4:c.C271G:p.P91A,SFTPA1:NM_001164645:exon4:c.C169G:p.P57A,SFTPA1:NM_001164646:exon4:c.C124G:p.P42A,SFTPA1:NM_005411:exon4:c.C271G:p.P91A exonic ENSG00000122852 NA nonsynonymous SNV ENSG00000122852:ENST00000372313:exon2:c.C94G:p.P32A,ENSG00000122852:ENST00000428376:exon3:c.C271G:p.P91A,ENSG00000122852:ENST00000429958:exon3:c.C271G:p.P91A,ENSG00000122852:ENST00000372308:exon4:c.C271G:p.P91A,ENSG00000122852:ENST00000398636:exon4:c.C271G:p.P91A,ENSG00000122852:ENST00000419470:exon4:c.C316G:p.P106A,ENSG00000122852:ENST00000439264:exon4:c.C271G:p.P91A Score=363;Name=lod=40 NA 10q22.3 NA Name=ZNF263 NA NA rs1136452 0.0046 0.0046 NA 0.00539137 0.008 NA 0.0014 0.0113 0.0031 0.01 NA 0.0028 0.01 0.0072 0.014 0.16 T 0.972 D 0.673 P 0.015 N 0.817 N 0.9 L -3.16 D 0.040 D 0.612 D 0.418 0.847 8.424 2.73 1.840 0.938 9.116 0.847037 NA 0.1 0.01094 0.013845 NA NA NA 15.8071934 141 19 55693469 55693469 C T exonic PTPRH NA nonsynonymous SNV PTPRH:NM_001161440:exon17:c.G2579A:p.R860Q,PTPRH:NM_002842:exon19:c.G3113A:p.R1038Q exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000263434:exon17:c.G2579A:p.R860Q,ENSG00000080031:ENST00000376350:exon19:c.G3113A:p.R1038Q Score=500;Name=lod=143 NA 19q13.42 Score=959;Name=V$MYOD_Q6 NA NA NA rs45541434 0.01 0.01 0.004 0.00519169 0.0119 NA 0.013 0.0008 0.0041 0.01 NA 0.02 0.002 0.0075 0.02 0.99 T 0.975 D 0.655 P 0.004 N 0.521 D -0.45 N -1.59 D -0.594 T 0.154 T 0.114 3.685 18.72 3.82 1.196 1.793 8.962 3.684827 3.684827 0.21 0.009186 0.003404 NA 0.007 NA 15.8047474 142 15 52536596 52536596 C T exonic MYO5C NA nonsynonymous SNV MYO5C:NM_018728:exon19:c.G2347A:p.A783T exonic ENSG00000128833 NA nonsynonymous SNV ENSG00000128833:ENST00000261839:exon19:c.G2347A:p.A783T Score=284;Name=lod=19 NA 15q21.2 NA Name=ELF1_(SC-631) NA NA rs55712142 0.04 0.04 0.026 0.0339457 0.0099 0.1002 0.0375 NA 0.0337 0.01 0.11 0.03 NA 0.0224 0.11 0.5 T 0.788 P 0.126 B 0.000 D 1.000 D 1.855 L -3.82 D -0.408 T 0.066 T 0.684 3.927 19.98 5.07 2.634 5.616 18.241 3.926667 3.926667 0.46 0.009631 0.003122 NA 0.022 NA 15.7914024 143 11 123777302 123777302 T G exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.T164G:p.L55R exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.T164G:p.L55R Score=284;Name=lod=19 NA 11q24.1 NA NA NA NA rs17127947 0.19 0.19 0.197 0.186502 0.1829 0.0933 0.1455 0.2844 0.183 0.19 0.13 0.16 0.27 0.1772 0.27 0 D 1.0 D 0.992 D 0.001 D 0.000 P 4.335 H 2.48 T -1.019 T 0.000 T 0.394 2.926 15.75 5.67 2.143 7.872 14.889 2.926498 2.926498 0 0.190277 0.245459 ID=COSM147343;OCCURENCE=1(stomach) 0.196 NA 15.7829564 143 15 90144615 90144615 T C exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon10:c.T2240C:p.V747A exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon10:c.T2240C:p.V747A,ENSG00000140534:ENST00000560985:exon10:c.T2237C:p.V746A Score=412;Name=lod=63 NA 15q26.1 NA NA NA NA rs12905387 0.01 0.01 0.004 0.00658946 0.0209 0.001 0.0086 NA 0.0051 0.02 NA 0.01 NA 0.011 0.02 0.01 D 0.972 D 0.673 P 0.025 N 0.906 D 2.095 M 1.81 T -0.991 T 0.053 T 0.341 3.243 16.87 4.39 1.006 3.500 10.819 3.242645 3.242645 0.02 0.019551 0.003363 NA NA NA 15.7818824 143 13 41323397 41323397 C T exonic MRPS31 NA nonsynonymous SNV MRPS31:NM_005830:exon6:c.G835A:p.D279N exonic ENSG00000102738 NA nonsynonymous SNV ENSG00000102738:ENST00000323563:exon6:c.G835A:p.D279N Score=483;Name=lod=123 NA 13q14.11 Score=951;Name=V$LYF1_01 NA NA NA rs13508 0.14 0.14 0.129 0.166933 0.1839 0.0675 0.2061 0.1278 0.2771 0.19 0.06 0.19 0.13 0.1933 0.19 0.02 D 0.999 D 0.951 D 0.000 D 0.000 P 1.87 L 1.47 T -1.203 T 0.000 T 0.032 4.631 25.4 5.17 2.406 6.719 17.260 4.631462 4.631462 0.02 0.177907 0.128234 NA 0.109 NA 15.7782264 143 18 13826391 13826391 C G exonic MC5R NA nonsynonymous SNV MC5R:NM_005913:exon1:c.C627G:p.F209L exonic ENSG00000176136 NA nonsynonymous SNV ENSG00000176136:ENST00000324750:exon1:c.C627G:p.F209L Score=495;Name=lod=137 NA 18p11.21 Score=793;Name=V$MYOGNF1_01 NA NA NA rs2236700 0.27 0.27 0.256 0.265375 0.172 0.3433 0.3573 0.3154 0.1483 0.17 0.37 0.3 0.29 0.2071 0.37 0.61 T 1.0 D 0.996 D 0.000 D 0.000 P 2.51 M 1.35 T -0.949 T 0.000 T 0.479 3.736 18.97 3.18 1.086 1.790 10.588 3.736421 3.736421 NA 0.178721 0.29596 NA 0.196 NA 15.7755124 144 11 48239182 48239182 C A exonic OR4B1 NA nonsynonymous SNV OR4B1:NM_001005470:exon1:c.C821A:p.T274K exonic ENSG00000175619 NA nonsynonymous SNV ENSG00000175619:ENST00000309562:exon1:c.C821A:p.T274K Score=366;Name=lod=41 NA 11p11.2 NA NA NA NA rs7130086 0.21 0.21 0.204 0.262181 0.174 0.3869 0.1844 0.1293 0.4591 0.19 0.34 0.18 0.14 0.2177 0.34 0 D 0.994 D 0.952 D 0.000 D 0.477 P 4.1 H 8.39 T -1.047 T 0.000 T 0.299 2.185 13.26 4.63 1.347 1.092 12.482 2.184673 2.184673 0 0.169846 0.140845 NA 0.196 NA 15.7717874 145 1 118644524 118644524 T A exonic SPAG17 NA nonsynonymous SNV SPAG17:NM_206996:exon5:c.A473T:p.E158V exonic ENSG00000155761 NA nonsynonymous SNV ENSG00000155761:ENST00000336338:exon5:c.A473T:p.E158V Score=343;Name=lod=33 NA 1p12 NA NA NA NA rs17185492 0.14 0.14 0.112 0.115815 0.2078 0.1329 0.147 0.0212 0.1094 0.22 0.12 0.17 0.01 0.167 0.22 0.01 D 1.0 D 0.998 D 0.000 D 0.535 P 2.19 M -0.0 T -0.261 T 0.338 T 0.245 3.735 18.97 5.39 2.168 3.050 13.067 3.734811 3.734811 0.14 0.199302 0.049705 ID=COSM1178400;OCCURENCE=1(prostate) 0.116 NA 15.7592314 146 17 6513329 6513329 G A exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon9:c.C1697T:p.P566L exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000589033:exon2:c.C65T:p.P22L,ENSG00000198920:ENST00000542606:exon7:c.C800T:p.P267L,ENSG00000198920:ENST00000572370:exon8:c.C800T:p.P267L,ENSG00000198920:ENST00000361413:exon9:c.C1697T:p.P566L Score=409;Name=lod=61 NA 17p13.1 NA NA Name=7 NA rs2304977 0.28 0.28 0.252 0.271765 0.3459 0.3562 0.3876 0.0303 0.3528 0.34 0.31 0.41 0.04 0.3575 0.41 0.31 T 0.979 D 0.747 P 0.000 D 0.000 P 2.43 M -2.02 D -1.136 T 0.000 T 0.315 3.689 18.74 4.15 1.275 2.037 11.292 3.688818 3.688818 0 0.37573 0.085302 NA 0.232 NA 15.7542034 146 11 46893108 46893108 T C exonic LRP4 NA nonsynonymous SNV LRP4:NM_002334:exon31:c.A4660G:p.S1554G exonic ENSG00000134569 NA nonsynonymous SNV ENSG00000134569:ENST00000378623:exon31:c.A4660G:p.S1554G Score=617;Name=lod=429 Name=D-dimer levels 11p11.2 Score=906;Name=V$AP1_Q2 NA NA NA rs2306029 0.35 0.35 0.322 0.367612 0.5417 0.2569 0.4841 0.1142 0.5624 0.53 0.27 0.45 0.11 0.4942 0.54 0.04 D 0.233 B 0.3 B 0.000 D 0.000 P 2.015 M -3.81 D -1.117 T 0.000 T 0.353 3.634 18.48 5.81 2.210 7.437 12.391 3.633739 3.633739 0.16 0.543266 0.194911 NA 0.478 NA 15.7541674 146 11 46886077 46886077 A T exonic LRP4 NA nonsynonymous SNV LRP4:NM_002334:exon36:c.T5165A:p.L1722H exonic ENSG00000134569 NA nonsynonymous SNV ENSG00000134569:ENST00000378623:exon36:c.T5165A:p.L1722H Score=508;Name=lod=155 NA 11p11.2 NA NA NA NA rs117936904 0.02 0.02 0.015 0.0121805 0.0408 NA 0.0202 0.0015 0.0041 0.04 NA 0.02 0.002 0.0186 0.04 0.48 T 0.992 D 0.707 P 0.000 D 1.000 D 0.695 N -2.76 D -0.212 T 0.304 T 0.462 4.265 22.3 5.99 2.291 6.753 14.736 4.265248 4.265248 0.01 0.022098 0.004543 NA NA NA 15.7518354 147 2 170060603 170060603 T C exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon42:c.A7894G:p.N2632D exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon42:c.A7894G:p.N2632D Score=278;Name=lod=18 NA 2q31.1 NA Name=FOXA1_(C-20),GATA3_(SC-268),ERalpha_a,FOXA2_(SC-6554) Name=4 NA rs17848169 0.02 0.02 0.019 0.0171725 0.0398 0.0129 0.0115 0.0015 0.0235 0.04 0.01 0.01 0.002 0.0295 0.04 0.87 T 0.514 P 0.053 B 0.007 N 1.000 D 0.815 L -2.73 D -0.588 T 0.166 T 0.023 -0.501 1.705 3.13 0.374 2.342 12.377 -0.50059 NA 0.74 0.037442 0.007036 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117548.2;CLNDSDB=.;CLNDSDBID=. 15.7265914 147 7 143633157 143633157 T C exonic OR2F2 NA nonsynonymous SNV OR2F2:NM_001004685:exon1:c.T832C:p.Y278H exonic ENSG00000221910 NA nonsynonymous SNV ENSG00000221910:ENST00000408955:exon1:c.T832C:p.Y278H Score=265;Name=lod=16 NA 7q35 NA NA NA NA rs13235235 0.17 0.17 0.169 0.165535 0.2028 0.002 0.1657 0.3464 0.0511 0.19 NA 0.19 0.32 0.1816 0.33 0 D 1.0 D 0.999 D 0.001 D 0.963 P 3.185 M 8.11 T -0.948 T 0.000 T 0.081 1.14 9.646 3.57 1.626 4.377 10.420 1.140355 NA 0.01 0.223657 0.333181 NA 0.239 NA 15.7252764 148 19 38055612 38055612 A T exonic ZNF571 NA nonsynonymous SNV ZNF571:NM_016536:exon4:c.T1718A:p.L573H exonic ENSG00000180479 NA nonsynonymous SNV ENSG00000180479:ENST00000328550:exon4:c.T1718A:p.L573H,ENSG00000180479:ENST00000451802:exon4:c.T1718A:p.L573H,ENSG00000180479:ENST00000593133:exon4:c.T1718A:p.L573H,ENSG00000180479:ENST00000358744:exon5:c.T1718A:p.L573H NA NA 19q13.12 NA Name=KAP1,ZNF274,SETDB1 Name=4 NA rs4802029 0.36 0.36 0.356 0.368211 0.168 0.6528 0.2637 0.3555 0.3722 0.17 0.65 0.25 0.41 0.2613 0.65 0.01 D 1.0 D 1.0 D . . 0.000 P 4.02 H 0.59 T -0.888 T 0.000 T 0.468 3.364 17.34 3.78 1.556 4.732 11.596 3.363795 3.363795 0.02 0.185581 0.315252 NA 0.297 NA 15.7184524 149 19 10085054 10085054 G A exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon46:c.C3373T:p.P1125S exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon46:c.C3373T:p.P1125S Score=538;Name=lod=205 NA 19p13.2 Score=920;Name=V$NFKAPPAB50_01 NA NA NA rs3815745 0.18 0.18 0.17 0.145966 0.2078 0.2202 0.1282 0.0688 0.1227 0.21 0.25 0.14 0.08 0.1939 0.25 0.62 T 0.993 D 0.953 D 0.000 D 0.030 P 1.075 L -3.8 D -1.025 T 0.001 T 0.109 4.047 20.8 4.89 2.246 6.794 15.533 4.046628 4.046628 0.15 0.226628 0.090331 NA 0.145 NA 15.7050054 150 18 72176083 72176083 T C exonic CNDP2 NA nonsynonymous SNV CNDP2:NM_018235:exon5:c.T376C:p.Y126H exonic ENSG00000133313 NA nonsynonymous SNV ENSG00000133313:ENST00000580672:exon3:c.T322C:p.Y108H,ENSG00000133313:ENST00000582666:exon3:c.T247C:p.Y83H,ENSG00000133313:ENST00000583785:exon4:c.T376C:p.Y126H,ENSG00000133313:ENST00000324262:exon5:c.T376C:p.Y126H,ENSG00000133313:ENST00000579847:exon5:c.T376C:p.Y126H,ENSG00000133313:ENST00000581272:exon5:c.T376C:p.Y126H,ENSG00000133313:ENST00000582589:exon5:c.T376C:p.Y126H,ENSG00000133313:ENST00000583216:exon5:c.T376C:p.Y126H Score=437;Name=lod=80 NA 18q22.3 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) NA NA rs2278161 0.2 0.2 0.166 0.215855 0.1899 0.3006 0.3156 0.0802 0.2679 0.18 0.3 0.26 0.08 0.2269 0.3 0.01 D 0.535 P 0.778 P 0.000 D 0.000 P 4.02 H 0.61 T -1.136 T 0.000 T 0.592 2.119 13.04 5.57 2.114 7.629 15.743 2.119143 2.119143 0.01 0.22314 0.118248 ID=COSM148445;OCCURENCE=1(stomach) 0.225 NA 15.6933934 151 22 30888527 30888527 C T exonic SEC14L4 NA nonsynonymous SNV SEC14L4:NM_001161368:exon8:c.G598A:p.V200M,SEC14L4:NM_174977:exon8:c.G598A:p.V200M exonic ENSG00000133488 NA nonsynonymous SNV ENSG00000133488:ENST00000255858:exon8:c.G598A:p.V200M,ENSG00000133488:ENST00000381982:exon8:c.G598A:p.V200M,ENSG00000133488:ENST00000392772:exon8:c.G436A:p.V146M,ENSG00000133488:ENST00000540456:exon9:c.G553A:p.V185M Score=569;Name=lod=275 NA 22q12.2 Score=831;Name=V$HNF4_01 NA NA NA rs17738540 0.15 0.15 0.144 0.147165 0.2296 0.0397 0.2824 0.1036 0.136 0.22 0.04 0.23 0.12 0.1938 0.23 0.05 D 1.0 D 0.91 D 0.000 D 0.000 P 1.74 L -1.05 T -1.106 T 0.000 T 0.448 2.783 15.27 2.76 1.199 1.804 11.461 2.783085 2.783085 0.05 0.225116 0.123014 NA 0.065 NA 15.6848174 152 17 33286664 33286664 A G exonic CCT6B NA nonsynonymous SNV CCT6B:NM_001193529:exon2:c.T143C:p.V48A,CCT6B:NM_001193530:exon2:c.T143C:p.V48A,CCT6B:NM_006584:exon2:c.T143C:p.V48A exonic ENSG00000132141 NA nonsynonymous SNV ENSG00000132141:ENST00000314144:exon2:c.T143C:p.V48A,ENSG00000132141:ENST00000421975:exon2:c.T143C:p.V48A,ENSG00000132141:ENST00000436961:exon2:c.T143C:p.V48A Score=604;Name=lod=379 NA 17q12 NA NA NA NA rs2230552 0.29 0.29 0.277 0.290935 0.2018 0.5278 0.2968 0.1225 0.362 0.2 0.56 0.28 0.13 0.2447 0.56 0 D 0.999 D 0.979 D 0.000 D 0.000 P 4.555 H -1.39 T -1.028 T 0.000 T 0.256 4.379 23.1 4.29 1.909 8.208 11.701 4.379366 4.379366 0 0.212674 0.124149 NA 0.232 NA 15.6741594 153 6 100966006 100966006 C T exonic ASCC3 NA nonsynonymous SNV ASCC3:NM_006828:exon38:c.G5788A:p.V1930M exonic ENSG00000112249 NA nonsynonymous SNV ENSG00000112249:ENST00000369162:exon38:c.G5788A:p.V1930M Score=580;Name=lod=303 NA 6q16.3 NA NA NA NA rs3213542 0.11 0.11 0.111 0.124002 0.0507 0.1597 0.1081 0.1891 0.0859 0.05 0.13 0.1 0.16 0.0782 0.16 0.03 D 0.975 D 0.819 P 0.000 D 0.000 P 2.86 M 0.09 T -0.243 T 0.342 T 0.238 4.325 22.7 4.93 2.433 3.942 18.505 4.324912 4.324912 0.03 0.046279 0.152065 NA 0.138 NA 15.6581544 154 13 39266484 39266484 G A exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon1:c.G5003A:p.R1668H exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon1:c.G5003A:p.R1668H Score=321;Name=lod=27 NA 13q13.3 NA NA NA NA rs1868463 0.11 0.11 0.116 0.121206 0.0547 0.246 0.0576 0.053 0.1984 0.05 0.26 0.06 0.07 0.0808 0.26 0.02 D 0.998 D 0.791 P 0.000 D 0.000 P 2.48 M 1.17 T -1.109 T 0.000 T 0.144 4.295 22.5 4.55 1.284 5.481 14.122 4.295451 4.295451 0.01 0.05093 0.043123 NA 0.08 NA 15.6469034 154 1 118657952 118657952 C T exonic SPAG17 NA nonsynonymous SNV SPAG17:NM_206996:exon4:c.G428A:p.R143Q exonic ENSG00000155761 NA nonsynonymous SNV ENSG00000155761:ENST00000336338:exon4:c.G428A:p.R143Q Score=289;Name=lod=20 NA 1p12 Score=799;Name=V$E2F_01 NA NA NA rs12133381 0.09 0.09 0.079 0.10603 0.0586 0.2728 0.0346 0.0038 0.1718 0.06 0.23 0.04 0.01 0.074 0.23 0 D 0.681 P 0.102 B 0.000 D 0.995 P 2.395 M -0.32 T -0.614 T 0.168 T 0.091 1.868 12.2 5.02 1.522 2.496 14.170 1.867742 1.867742 0.07 0.054535 0.015213 NA 0.022 NA 15.6461984 155 14 57755564 57755564 G A exonic AP5M1 NA nonsynonymous SNV AP5M1:NM_018229:exon8:c.G1435A:p.A479T exonic ENSG00000053770 NA nonsynonymous SNV ENSG00000053770:ENST00000556377:exon2:c.G142A:p.A48T,ENSG00000053770:ENST00000261558:exon8:c.G1435A:p.A479T,ENSG00000053770:ENST00000431972:exon9:c.G1477A:p.A493T Score=600;Name=lod=366 NA 14q22.3 Score=845;Name=V$TST1_01 NA NA NA rs35759976 0.05 0.05 0.04 0.034345 0.0736 NA 0.1254 0.0023 0.0082 0.07 NA 0.13 0.002 0.0612 0.13 0.01 D 0.773 P 0.321 B 0.000 D 1.000 D 1.79 L 1.4 T -1.187 T 0.002 T 0.514 5.107 32 5.63 2.814 7.054 20.053 5.106553 5.106553 0.02 0.070995 0.015441 NA 0.022 NA 15.6275384 156 11 116662407 116662407 G C exonic APOA5 NA nonsynonymous SNV APOA5:NM_001166598:exon3:c.C56G:p.S19W,APOA5:NM_052968:exon3:c.C56G:p.S19W exonic ENSG00000110243 NA nonsynonymous SNV ENSG00000110243:ENST00000227665:exon2:c.C56G:p.S19W,ENSG00000110243:ENST00000433069:exon3:c.C56G:p.S19W,ENSG00000110243:ENST00000542499:exon3:c.C56G:p.S19W NA NA 11q23.3 NA NA Name=2 NA rs3135506 0.05 0.05 0.03 0.0557109 0.0676 NA 0.1167 0.0673 0.0419 0.06 NA 0.09 0.05 0.079 0.09 0 D 0.993 D 0.823 P 0.827 N 1.000 N 2.075 M -0.46 T -0.839 T 0.048 T 0.386 4.007 20.5 5.41 2.826 2.796 14.577 4.006633 4.006633 0 0.064944 0.061109 NA 0.029 CLINSIG=other;CLNDBN=Hypertriglyceridemia\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000004653.1;CLNDSDB=.;CLNDSDBID=. 15.6217894 156 19 33517515 33517515 C T exonic RHPN2 NA nonsynonymous SNV RHPN2:NM_033103:exon3:c.G209A:p.R70Q exonic ENSG00000131941 NA nonsynonymous SNV ENSG00000131941:ENST00000254260:exon3:c.G209A:p.R70Q,ENSG00000131941:ENST00000588388:exon3:c.G209A:p.R70Q Score=629;Name=lod=481 NA 19q13.11 NA NA NA NA rs28626308 0.08 0.08 0.069 0.116214 0.0596 0.1508 0.0735 0.0575 0.2485 0.06 0.14 0.08 0.05 0.0977 0.14 0.04 D 0.986 D 0.624 P 0.000 D 0.000 P 2.11 M 2.13 T -1.066 T 0.001 T 0.112 2.367 13.87 2.82 0.953 2.820 11.687 2.366555 2.366555 0.04 0.054302 0.065138 NA 0.072 NA 15.6217314 156 2 118743630 118743630 G A exonic CCDC93 NA nonsynonymous SNV CCDC93:NM_019044:exon7:c.C535T:p.R179C exonic ENSG00000125633 NA nonsynonymous SNV ENSG00000125633:ENST00000319432:exon7:c.C535T:p.R179C,ENSG00000125633:ENST00000376300:exon7:c.C535T:p.R179C Score=444;Name=lod=85 NA 2q14.1 NA NA Name=3 NA rs33975708 0.06 0.06 0.052 0.0407348 0.0855 NA 0.0706 0.0424 0.0133 0.09 NA 0.08 0.04 0.0568 0.09 0.01 D 0.994 D 0.79 P 0.002 N 0.000 P 2.045 M 0.83 T -0.894 T 0.013 T 0.191 4.191 21.7 4.81 2.497 3.980 13.251 4.190677 4.190677 0 0.073953 0.047208 NA 0.029 NA 15.6170804 157 17 76200965 76200965 C T exonic AFMID NA nonsynonymous SNV AFMID:NM_001010982:exon6:c.C451T:p.R151W,AFMID:NM_001145526:exon6:c.C451T:p.R151W exonic ENSG00000183077 NA nonsynonymous SNV ENSG00000183077:ENST00000586542:exon5:c.C365T:p.A122V,ENSG00000183077:ENST00000327898:exon6:c.C451T:p.R151W,ENSG00000183077:ENST00000409257:exon6:c.C451T:p.R151W,ENSG00000183077:ENST00000591256:exon6:c.C451T:p.R151W Score=304;Name=lod=23 NA 17q25.3 NA NA NA NA rs72897843 0.05 0.05 0.043 0.0391374 0.0835 0.001 0.0533 0.0068 0.0665 0.1 0.0017 0.07 0.01 0.0656 0.1 0.02 D 0.999 D 0.877 P 0.357 N 1.000 D 2.295 M 2.7 T -1.224 T 0.003 T 0.125 3.578 18.23 3.89 1.224 4.622 12.491 3.57845 3.57845 0 0.098372 0.021562 NA 0.051 NA 15.5858614 158 X 135956462 135956462 G C exonic RBMX NA nonsynonymous SNV RBMX:NM_002139:exon9:c.C1015G:p.R339G exonic ENSG00000147274 NA nonsynonymous SNV ENSG00000147274:ENST00000565438:exon7:c.C631G:p.R211G,ENSG00000147274:ENST00000570135:exon8:c.C610G:p.R204G,ENSG00000147274:ENST00000320676:exon9:c.C1015G:p.R339G Score=861;Name=lod=4226 NA Xq26.3 Score=878;Name=V$NKX22_01 Name=Pol2-4H8 NA NA rs74463481 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2719 0.043 0.01 D 0.889 P 0.319 B 0.000 U 0.000 P 1.845 L -1.47 T 0.063 D 0.412 T 0.865 1.824 12.06 4.54 1.168 4.693 13.840 1.824057 1.824057 0.04 NA NA ID=COSM1636400;OCCURENCE=1(liver) 0.065 NA 15.5614334 159 16 3405986 3405986 G A exonic OR2C1 NA nonsynonymous SNV OR2C1:NM_012368:exon1:c.G46A:p.G16S exonic ENSG00000168158 NA nonsynonymous SNV ENSG00000168158:ENST00000304936:exon1:c.G46A:p.G16S Score=336;Name=lod=31 NA 16p13.3 NA NA NA NA rs1218762 0.26 0.26 0.258 0.252596 0.2614 0.1429 0.2435 0.3389 0.2464 0.27 0.14 0.25 0.37 0.2644 0.37 0.02 D 0.998 D 0.922 D 0.001 D 0.005 P 3.72 H 5.96 T -0.963 T 0.000 T 0.306 2.842 15.47 4.35 2.241 7.449 14.413 2.841769 2.841769 0.01 0.274884 0.345926 NA 0.384 NA 15.5326494 159 6 133045902 133045902 A G ncRNA_exonic VNN3 NA NA NA exonic ENSG00000093134 NA nonsynonymous SNV ENSG00000093134:ENST00000207771:exon6:c.T1043C:p.F348S Score=363;Name=lod=40 NA 6q23.2 NA NA NA NA rs2294759 0.27 0.27 0.246 0.269369 0.33 0.2232 0.4135 0.1467 0.318 0.3 0.23 0.4 0.16 0.3168 0.4 0.42 T 1.0 D 0.979 D 0.000 D 0.000 P . . -2.27 D 0.245 D 0.673 D 0.748 3.658 18.6 5.1 2.049 4.686 15.177 3.658274 3.658274 0 0.320693 0.166667 NA 0.203 NA 15.532507 160 11 124294349 124294349 C A exonic OR8B4 NA nonsynonymous SNV OR8B4:NM_001005196:exon1:c.G419T:p.C140F exonic ENSG00000198657 NA nonsynonymous SNV ENSG00000198657:ENST00000356130:exon1:c.G419T:p.C140F Score=251;Name=lod=14 NA 11q24.2 NA Name=MafF_(M8194),MafK_(ab50322) NA NA rs7116575 0.15 0.15 0.165 0.160743 0.0875 0.1984 0.111 0.2648 0.092 0.09 0.18 0.08 0.28 0.1185 0.28 0.01 D 0.529 P 0.443 B 0.000 D 0.000 P 3.5 M 8.52 T -0.903 T 0.000 T 0.325 1.642 11.45 4.62 2.564 2.958 17.603 1.641959 1.641959 0.01 0.107002 0.223989 NA 0.167 NA 15.5203314 160 7 100371417 100371417 G A exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon30:c.G5708A:p.C1903Y,ENSG00000146839:ENST00000542585:exon30:c.G5708A:p.C1903Y,ENSG00000146839:ENST00000546213:exon30:c.G1241A:p.C414Y,ENSG00000146839:ENST00000546292:exon30:c.G5708A:p.C1903Y Score=340;Name=lod=32 NA 7q22.1 NA NA NA NA rs12673041 0.07 0.07 0.072 0.107428 0.0368 0.1012 0.0562 0.1528 0.1616 0.03 0.07 0.05 0.16 0.0754 0.16 0 D 1.0 D 0.999 D 0.000 D 0.354 P 3.435 M 0.11 T -1.124 T 0.083 T 0.647 2.874 15.58 4.56 2.469 5.896 13.539 2.874327 2.874327 NA 0.037787 0.145441 NA 0.036 NA 15.5166797 161 17 40722029 40722029 A G exonic MLX NA nonsynonymous SNV MLX:NM_198205:exon6:c.A416G:p.Q139R,MLX:NM_170607:exon7:c.A668G:p.Q223R,MLX:NM_198204:exon7:c.A506G:p.Q169R exonic ENSG00000108788 NA nonsynonymous SNV ENSG00000108788:ENST00000346833:exon6:c.A416G:p.Q139R,ENSG00000108788:ENST00000591024:exon6:c.A578G:p.Q193R,ENSG00000108788:ENST00000246912:exon7:c.A668G:p.Q223R,ENSG00000108788:ENST00000435881:exon7:c.A506G:p.Q169R Score=587;Name=lod=325 NA 17q21.2 NA NA Name=8 NA rs665268 0.29 0.29 0.276 0.321486 0.2654 0.4355 0.2075 0.1952 0.5133 0.28 0.42 0.2 0.22 0.2903 0.42 0.35 T 1.0 D 0.982 D 0.000 D 0.000 P 2.045 M -1.08 T -1.047 T 0.000 T 0.121 2.728 15.08 4.65 1.014 7.525 11.437 2.72769 2.72769 0.05 0.273256 0.199047 NA 0.391 NA 15.5043774 162 8 18258103 18258103 G A exonic NAT2 NA nonsynonymous SNV NAT2:NM_000015:exon2:c.G590A:p.R197Q exonic ENSG00000156006 NA nonsynonymous SNV ENSG00000156006:ENST00000286479:exon2:c.G590A:p.R197Q,ENSG00000156006:ENST00000520116:exon2:c.G200A:p.R67Q Score=369;Name=lod=42 NA 8p22 NA NA NA NA rs1799930 0.24 0.24 0.245 0.264976 0.2823 0.256 0.1715 0.2375 0.3599 0.28 0.23 0.18 0.26 0.2773 0.29 0.08 T 1.0 D 0.991 D 0.000 D 0.002 P 2.33 M 4.43 T -0.935 T 0.000 T 0.503 2.204 13.33 2.51 1.706 1.291 8.621 2.204474 2.204474 0.08 0.290349 0.265774 NA 0.261 CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=single;CLNACC=RCV000000758.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005 15.4833844 163 1 79357360 79357360 G C exonic ELTD1 NA nonsynonymous SNV ELTD1:NM_022159:exon14:c.C1859G:p.A620G exonic ENSG00000162618 NA nonsynonymous SNV ENSG00000162618:ENST00000401034:exon4:c.C233G:p.A78G,ENSG00000162618:ENST00000370742:exon14:c.C1859G:p.A620G Score=452;Name=lod=92 NA 1p31.1 NA NA Name=2 NA rs2275902 0.26 0.26 0.268 0.252796 0.3091 0.2312 0.2046 0.2905 0.2004 0.31 0.21 0.23 0.28 0.2663 0.31 . . 0.999 D 0.992 D 0.000 D 0.000 P 2.84 M 0.78 T -0.409 T 0.316 T 0.372 4.843 27.6 5.59 2.612 9.835 19.583 4.843199 4.843199 0.02 0.294182 0.260406 NA 0.196 NA 15.4637514 164 4 187004074 187004074 C T exonic TLR3 NA nonsynonymous SNV TLR3:NM_003265:exon4:c.C1234T:p.L412F exonic ENSG00000164342 NA nonsynonymous SNV ENSG00000164342:ENST00000504367:exon2:c.C403T:p.L135F,ENSG00000164342:ENST00000296795:exon4:c.C1234T:p.L412F,ENSG00000164342:ENST00000513189:exon5:c.C1042T:p.L348F Score=426;Name=lod=72 NA 4q35.1 NA NA NA NA rs3775291 0.25 0.25 0.221 0.231829 0.3241 0.3284 0.3055 0.0265 0.2628 0.32 0.31 0.3 0.04 0.2712 0.32 0.02 D 1.0 D 1.0 D 0.000 N 0.000 P 4.52 H 0.95 T -1.355 T 0.000 T 0.481 2.888 15.62 4.95 1.458 4.031 14.798 2.888156 2.888156 0 0.290233 0.071039 ID=COSM149771;OCCURENCE=1(stomach) 0.21 CLINSIG=pathogenic;CLNDBN=Congenital_human_immunodeficiency_virus;CLNREVSTAT=single;CLNACC=RCV000034357.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1836230:609423 15.4478004 164 20 18513372 18513372 C T exonic SEC23B NA nonsynonymous SNV SEC23B:NM_001172745:exon11:c.C1298T:p.P433L,SEC23B:NM_001172746:exon11:c.C1244T:p.P415L,SEC23B:NM_006363:exon11:c.C1298T:p.P433L,SEC23B:NM_032985:exon11:c.C1298T:p.P433L,SEC23B:NM_032986:exon11:c.C1298T:p.P433L exonic ENSG00000101310 NA nonsynonymous SNV ENSG00000101310:ENST00000262544:exon11:c.C1298T:p.P433L,ENSG00000101310:ENST00000336714:exon11:c.C1298T:p.P433L,ENSG00000101310:ENST00000377465:exon11:c.C1298T:p.P433L,ENSG00000101310:ENST00000377475:exon11:c.C1298T:p.P433L Score=478;Name=lod=117 NA 20p11.23 NA NA NA NA rs17807673 0.06 0.06 0.057 0.0613019 0.1302 0.003 0.1095 0.0061 0.091 0.13 0.0017 0.09 0.01 0.1122 0.14 0.01 D 0.5 P 0.382 B 0.000 D 0.000 P 3.13 M -0.91 T -0.774 T 0.009 T 0.155 3.861 19.62 4.75 2.631 7.109 17.270 3.860872 3.860872 0.01 0.143605 0.030186 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081399.1;CLNDSDB=.;CLNDSDBID=. 15.4473284 165 17 56448297 56448297 C T exonic RNF43 NA nonsynonymous SNV RNF43:NM_017763:exon3:c.G350A:p.R117H exonic ENSG00000108375 NA nonsynonymous SNV ENSG00000108375:ENST00000584437:exon2:c.G350A:p.R117H,ENSG00000108375:ENST00000407977:exon3:c.G350A:p.R117H,ENSG00000108375:ENST00000577716:exon3:c.G350A:p.R117H Score=527;Name=lod=185 Name=Pancreatic cancer 17q22 Score=794;Name=V$PAX5_01 NA NA NA rs2257205 0.19 0.19 0.179 0.226238 0.1163 0.373 0.1009 0.1831 0.3354 0.12 0.35 0.11 0.18 0.1641 0.35 0 D 1.0 D 0.902 P 0.023 N 0.000 P 0.695 N 0.91 T -0.981 T 0.000 T 0.388 3.863 19.62 5.45 2.555 2.818 7.990 3.86256 3.86256 0 0.108837 0.185202 NA 0.181 NA 15.4440964 166 16 20441053 20441053 C G exonic ACSM5 NA nonsynonymous SNV ACSM5:NM_017888:exon8:c.C1055G:p.P352R exonic ENSG00000183549 NA nonsynonymous SNV ENSG00000183549:ENST00000331849:exon8:c.C1055G:p.P352R Score=448;Name=lod=88 NA 16p12.3 Score=789;Name=V$PAX2_01 NA NA NA rs8062344 0.44 0.44 0.426 0.439097 0.2813 0.5774 0.2046 0.6846 0.2935 0.3 0.58 0.23 0.67 0.3238 0.67 0 D 0.994 D 0.94 D 0.001 N 0.000 P 2.15 M 0.87 T -0.906 T 0.000 T 0.261 3.098 16.35 4.44 2.149 6.068 16.206 3.098109 3.098109 0 0.294535 0.60985 NA 0.493 NA 15.4336984 166 22 38877461 38877461 T G exonic KDELR3 NA nonsynonymous SNV KDELR3:NM_006855:exon4:c.T596G:p.V199G,KDELR3:NM_016657:exon4:c.T596G:p.V199G exonic ENSG00000100196 NA nonsynonymous SNV ENSG00000100196:ENST00000216014:exon4:c.T596G:p.V199G,ENSG00000100196:ENST00000409006:exon4:c.T596G:p.V199G Score=641;Name=lod=539 NA 22q13.1 NA Name=Pol2(phosphoS2),Pol2,Pol2-4H8 Name=44 NA rs12004 0.29 0.29 0.296 0.255192 0.3062 0.3542 0.1974 0.1657 0.2628 0.32 0.38 0.22 0.18 0.2884 0.38 0.03 D 0.823 P 0.568 P 0.001 N 0.000 P 2.56 M -0.96 T -1.143 T 0.000 T 0.545 3.194 16.69 4.65 1.950 7.868 14.226 3.193945 3.193945 0 0.306279 0.187018 NA 0.261 NA 15.4324544 166 10 126715436 126715436 C T exonic CTBP2 NA nonsynonymous SNV CTBP2:NM_022802:exon1:c.G893A:p.R298Q exonic ENSG00000175029 NA nonsynonymous SNV ENSG00000175029:ENST00000309035:exon1:c.G893A:p.R298Q Score=333;Name=lod=30 NA 10q26.13 NA NA NA NA rs3781411 0.12 0.12 0.08 0.122005 0.1352 0.0456 0.2896 0.1089 0.0859 0.13 0.05 0.24 0.1 0.1395 0.24 0 D 0.999 D 0.873 P 0.000 D 0.000 P . . -2.27 D -1.254 T 0.001 T 0.243 4.25 22.1 3.96 2.423 3.859 14.173 4.249659 4.249659 0 0.131047 0.101906 NA 0.101 NA 15.4275864 167 12 32908237 32908237 C A exonic YARS2 NA nonsynonymous SNV YARS2:NM_001040436:exon1:c.G572T:p.G191V exonic ENSG00000139131 NA nonsynonymous SNV ENSG00000139131:ENST00000324868:exon1:c.G572T:p.G191V,ENSG00000139131:ENST00000548490:exon1:c.G494T:p.G165V Score=566;Name=lod=266 NA 12p11.21 NA Name=GABP,Znf143_(16618-1-AP),TAF1,YY1_(C-20),BCLAF1_(M33-P5B11),Pol2(phosphoS2),SMC3_(ab9263),Pol2,PU.1,Rad21,ELF1_(SC-631),Max,GTF2F1_(RAP-74),RXRA,BAF155,CTCF,AP-2alpha,ZNF263,GATA-2,Pol2-4H8,Sin3Ak-20,YY1,CTCF_(SC-5916),CTCF_(C-20),PAX5-N19,PAX5-C20,AP-2gamma,HEY1,c-Myc,CCNT2,TBP,USF-1,TCF12 Name=147 NA rs11539445 0.13 0.13 0.091 0.126597 0.162 0.0833 0.0937 0.177 0.09 0.16 0.07 0.09 0.17 0.1259 0.17 0.01 D 0.617 P 0.188 B 0.000 D 0.000 P -0.255 N 0.72 T -1.067 T 0.000 T 0.063 2.978 15.93 4.2 1.384 4.211 11.588 2.97849 2.97849 0.21 0.14314 0.162052 NA 0.08 NA 15.4022934 168 5 68695940 68695940 T G exonic RAD17 NA nonsynonymous SNV RAD17:NM_133339:exon14:c.T1670G:p.L557R,RAD17:NM_133340:exon14:c.T1142G:p.L381R,RAD17:NM_133341:exon14:c.T1379G:p.L460R,RAD17:NM_002873:exon15:c.T1637G:p.L546R,RAD17:NM_133344:exon15:c.T1637G:p.L546R,RAD17:NM_133342:exon16:c.T1637G:p.L546R,RAD17:NM_133343:exon16:c.T1637G:p.L546R,RAD17:NM_133338:exon17:c.T1637G:p.L546R exonic ENSG00000152942 NA nonsynonymous SNV ENSG00000152942:ENST00000513214:exon5:c.T494G:p.L165R,ENSG00000152942:ENST00000282891:exon14:c.T1379G:p.L460R,ENSG00000152942:ENST00000358030:exon14:c.T1142G:p.L381R,ENSG00000152942:ENST00000380774:exon14:c.T1670G:p.L557R,ENSG00000152942:ENST00000305138:exon15:c.T1637G:p.L546R,ENSG00000152942:ENST00000345306:exon15:c.T1637G:p.L546R,ENSG00000152942:ENST00000521422:exon15:c.T1142G:p.L381R,ENSG00000152942:ENST00000354312:exon16:c.T1637G:p.L546R,ENSG00000152942:ENST00000361732:exon16:c.T1637G:p.L546R,ENSG00000152942:ENST00000509734:exon16:c.T1670G:p.L557R,ENSG00000152942:ENST00000354868:exon17:c.T1637G:p.L546R Score=603;Name=lod=375 NA 5q13.2 NA NA NA NA rs1045051 0.26 0.26 0.207 0.254792 0.3231 0.3155 0.3012 0.0446 0.3732 0.31 0.34 0.27 0.06 0.2992 0.34 0 D 1.0 D 1.0 D 0.000 D 0.000 P 2.05 M 1.79 T -1.039 T 0.000 T 0.695 4.291 22.4 5.73 2.203 7.248 15.060 4.29121 4.29121 0 0.321744 0.083976 NA 0.225 NA 15.3892894 169 8 24339679 24339679 G A exonic ADAM7 NA nonsynonymous SNV ADAM7:NM_003817:exon9:c.G730A:p.V244M exonic ENSG00000069206 NA nonsynonymous SNV ENSG00000069206:ENST00000520720:exon3:c.G46A:p.V16M,ENSG00000069206:ENST00000175238:exon9:c.G730A:p.V244M,ENSG00000069206:ENST00000380789:exon9:c.G730A:p.V244M Score=444;Name=lod=85 NA 8p21.2 NA NA NA NA rs13255694 0.25 0.25 0.216 0.261382 0.3032 0.1875 0.428 0.1006 0.3937 0.31 0.19 0.41 0.1 0.3261 0.41 0 D 1.0 D 1.0 D 0.000 D 0.000 P 3.595 H -0.7 T -1.131 T 0.000 T 0.427 3.357 17.31 5.63 2.652 4.064 15.176 3.357026 3.357026 0 0.329572 0.127099 NA 0.181 NA 15.3744614 169 8 110413762 110413762 T C exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon14:c.T1318C:p.Y440H exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon14:c.T1318C:p.Y440H Score=576;Name=lod=291 NA 8q23.1 Score=768;Name=V$MEF2_01 NA NA NA rs964307 0.32 0.32 0.264 0.3123 0.3111 0.3929 0.4741 0.1483 0.3374 0.31 0.41 0.42 0.16 0.3309 0.42 0 D 0.998 D 0.972 D 0.002 N 0.997 P 1.955 M 2.03 T -0.921 T 0.000 T 0.239 3.698 18.78 5.75 2.193 5.614 14.007 3.697657 3.697657 0 0.319029 0.188974 NA 0.29 NA 15.3723044 170 3 81698130 81698130 T C exonic GBE1 NA nonsynonymous SNV GBE1:NM_000158:exon5:c.A568G:p.R190G exonic ENSG00000114480 NA nonsynonymous SNV ENSG00000114480:ENST00000429644:exon5:c.A568G:p.R190G,ENSG00000114480:ENST00000489715:exon5:c.A445G:p.R149G Score=710;Name=lod=1022 NA 3p12.2 Score=856;Name=V$HAND1E47_01 NA NA NA rs2229519 0.33 0.33 0.297 0.321486 0.3052 0.4425 0.3026 0.2579 0.3129 0.3 0.44 0.28 0.27 0.3746 0.44 0.02 D 0.028 B 0.009 B 0.004 N 0.423 P 2.91 M -2.15 D -0.925 T 0.000 T 0.244 2.273 13.56 4.81 2.255 3.477 3.475 2.272762 2.272762 0.03 0.300542 0.276631 NA 0.326 CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000066196.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 15.3529914 171 16 28603655 28603655 T G exonic SULT1A2 NA nonsynonymous SNV SULT1A2:NM_001054:exon7:c.A704C:p.N235T,SULT1A2:NM_177528:exon7:c.A704C:p.N235T exonic ENSG00000197165 NA nonsynonymous SNV ENSG00000197165:ENST00000533150:exon3:c.A605C:p.N202T,ENSG00000197165:ENST00000335715:exon7:c.A704C:p.N235T,ENSG00000197165:ENST00000395630:exon7:c.A704C:p.N235T Score=454;Name=lod=93 NA 16p11.2 NA NA NA NA rs1059491 0.24 0.24 0.204 0.22484 0.3171 0.0744 0.3977 0.2209 0.1677 0.33 0.09 0.32 0.22 0.3126 0.36 0.01 D 1.0 D 1.0 D 0.000 D 0.022 P 2.82 M 4.45 T -0.944 T 0.000 T 0.258 3.95 20.2 4.98 1.864 7.957 12.659 3.950088 3.950088 0.01 0.360814 0.246472 ID=COSM1579553;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.174 NA 15.3428194 172 1 27686399 27686399 G T exonic MAP3K6 NA nonsynonymous SNV MAP3K6:NM_004672:exon17:c.C2269A:p.Q757K exonic ENSG00000142733 NA nonsynonymous SNV ENSG00000142733:ENST00000374040:exon16:c.C2245A:p.Q749K,ENSG00000142733:ENST00000357582:exon17:c.C2269A:p.Q757K,ENSG00000142733:ENST00000493901:exon18:c.C2269A:p.Q757K Score=620;Name=lod=442 NA 1p36.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03 D 0.906 P 0.542 P . . 0.991 D 0.565 N -0.08 T -0.769 T 0.177 T 0.714 3.813 19.36 5.03 2.610 5.201 12.037 3.812996 3.812996 NA NA NA NA NA NA 15.3333334 172 1 144930940 144930940 T C exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A769G:p.K257E exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon1:c.A769G:p.K257E,ENSG00000178104:ENST00000529945:exon1:c.A769G:p.K257E Score=265;Name=lod=16 NA 1q21.1 Score=844;Name=V$FAC1_01 Name=KAP1 Name=134 NA rs2147326 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 1 T 0.763 P 0.311 B . . 1.000 D 1.7 L 2.72 T -1.113 T 0.015 T 0.327 0.892 8.625 5.53 2.100 3.061 13.604 0.89225 NA 1 NA NA NA 0.5 NA 15.3333334 172 6 38810663 38810663 A C exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon35:c.A4829C:p.H1610P exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon31:c.A4178C:p.H1393P,ENSG00000124721:ENST00000359357:exon33:c.A4178C:p.H1393P,ENSG00000124721:ENST00000327475:exon34:c.A4793C:p.H1598P,ENSG00000124721:ENST00000449981:exon35:c.A4829C:p.H1610P Score=593;Name=lod=343 NA 6p21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04 D 0.1 B 0.279 B 0.001 D 0.995 N 3.18 M 0.05 T -0.656 T 0.242 T 0.434 1.998 12.64 5.12 2.047 6.176 9.721 1.998387 1.998387 0.02 NA NA NA NA NA 15.3333334 172 17 38560731 38560731 C T exonic TOP2A NA nonsynonymous SNV TOP2A:NM_001067:exon18:c.G2059A:p.G687R exonic ENSG00000131747 NA nonsynonymous SNV ENSG00000131747:ENST00000423485:exon18:c.G2059A:p.G687R Score=459;Name=lod=98 NA 17q21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004198 NA 0.01 D 0.273 B 0.23 B 0.000 D 1.000 D 1.745 L 1.93 T -1.046 T 0.090 T 0.948 4.064 20.9 5.5 2.592 7.760 19.383 4.064383 4.064383 0.03 NA NA NA NA NA 15.3332914 172 2 160706630 160706630 G A exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon23:c.C3011T:p.P1004L,LY75-CD302:NM_001198760:exon23:c.C3011T:p.P1004L,LY75:NM_002349:exon23:c.C3011T:p.P1004L exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon23:c.C3011T:p.P1004L,ENSG00000248672:ENST00000504764:exon23:c.C3011T:p.P1004L,ENSG00000248672:ENST00000505052:exon23:c.C3011T:p.P1004L,ENSG00000054219:ENST00000553424:exon23:c.C3011T:p.P1004L,ENSG00000054219:ENST00000554112:exon23:c.C3011T:p.P1004L Score=431;Name=lod=75 NA 2q24.2 Score=949;Name=V$CETS1P54_01 NA NA NA rs145262865 0.0005 0.0005 NA 0.000199681 NA 0.001 NA NA NA NA 0.0017 NA NA 0.00002491 0.0017 0.1 T 1.0 D 0.999 D 0.005 U 1.000 D 1.825 L 2.21 T -1.107 T 0.107 T 0.694 3.637 18.5 5.54 2.609 4.305 16.373 3.636931 3.636931 0.01 0.000116 0.000227 ID=COSM1008195;OCCURENCE=1(endometrium) NA NA 15.3331925 172 18 77659045 77659045 G C exonic KCNG2 NA nonsynonymous SNV KCNG2:NM_012283:exon2:c.G630C:p.E210D exonic ENSG00000178342 NA nonsynonymous SNV ENSG00000178342:ENST00000316249:exon2:c.G630C:p.E210D Score=679;Name=lod=765 NA 18q23 NA NA NA NA rs200870939 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0001 0.34 T 0.793 P 0.459 P 0.120 U 1.000 D 2.045 M -4.42 D 0.434 D 0.834 D 0.169 1.849 12.14 1.31 0.638 1.858 4.322 1.849026 1.849026 0.09 0.000116 0 NA NA NA 15.3330174 172 3 49147760 49147760 C T exonic USP19 NA nonsynonymous SNV USP19:NM_006677:exon25:c.G3586A:p.V1196I,USP19:NM_001199160:exon26:c.G3889A:p.V1297I,USP19:NM_001199161:exon26:c.G3895A:p.V1299I,USP19:NM_001199162:exon26:c.G3859A:p.V1287I exonic ENSG00000172046 NA nonsynonymous SNV ENSG00000172046:ENST00000398896:exon23:c.G3010A:p.V1004I,ENSG00000172046:ENST00000398888:exon25:c.G3586A:p.V1196I,ENSG00000172046:ENST00000398898:exon25:c.G3706A:p.V1236I,ENSG00000172046:ENST00000398892:exon26:c.G3706A:p.V1236I,ENSG00000172046:ENST00000417901:exon26:c.G3895A:p.V1299I,ENSG00000172046:ENST00000434032:exon26:c.G3889A:p.V1297I,ENSG00000172046:ENST00000453664:exon26:c.G3859A:p.V1287I Score=602;Name=lod=374 NA 3p21.31 NA NA NA NA rs185755099 0.0009 0.0009 NA 0 NA NA NA NA NA NA NA 0.01 NA 0.0003 0.01 0.17 T 0.999 D 0.997 D 0.000 D 1.000 D 1.24 L 1.4 T -0.967 T 0.136 T 0.483 4.869 27.9 5.67 2.666 7.476 19.763 4.86895 4.86895 0.03 0.000236 0 NA NA NA 15.3327974 172 3 38049774 38049774 C A exonic PLCD1 NA nonsynonymous SNV PLCD1:NM_001130964:exon13:c.G2050T:p.V684L,PLCD1:NM_006225:exon13:c.G1987T:p.V663L exonic ENSG00000187091 NA nonsynonymous SNV ENSG00000187091:ENST00000334661:exon13:c.G1987T:p.V663L,ENSG00000187091:ENST00000463876:exon13:c.G2050T:p.V684L Score=340;Name=lod=32 NA 3p22.2 NA NA NA NA rs78426951 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0009 0.0028 0.51 T 0.998 D 0.955 D 0.000 D 1.000 D 1.335 L -0.36 T -0.642 T 0.328 T 0.666 3.975 20.3 4.05 2.477 1.717 12.705 3.974526 3.974526 0.01 0.001395 0.000454 NA NA NA 15.3300384 172 12 4870233 4870233 A G exonic GALNT8 NA nonsynonymous SNV GALNT8:NM_017417:exon7:c.A1283G:p.N428S exonic ENSG00000130035 NA nonsynonymous SNV ENSG00000130035:ENST00000252318:exon7:c.A1283G:p.N428S Score=505;Name=lod=150 NA 12p13.32 NA NA NA NA rs143807268 0.0009 0.0009 0 0.000798722 0.002 0.001 NA NA 0.001 0.0013 0.0017 NA NA 0.0009 0.0017 0 D 0.943 P 0.543 P 0.044 N 0.882 D 3.235 M 0.2 T -0.194 T 0.296 T 0.274 3.82 19.4 3.27 1.389 8.531 9.672 3.819813 3.819813 0 0.001744 0.001135 NA NA NA 15.3286894 172 7 38574539 38574539 G A exonic AMPH NA nonsynonymous SNV AMPH:NM_001635:exon2:c.C142T:p.R48W,AMPH:NM_139316:exon2:c.C142T:p.R48W exonic ENSG00000078053 NA nonsynonymous SNV ENSG00000078053:ENST00000325590:exon2:c.C142T:p.R48W,ENSG00000078053:ENST00000356264:exon2:c.C142T:p.R48W,ENSG00000078053:ENST00000428293:exon2:c.C142T:p.R48W Score=608;Name=lod=394 NA 7p14.1 NA NA NA NA rs147234401 0.0009 0.0009 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA 0.002 0.0012 0.0028 0 D 1.0 D 0.997 D 0.000 D 1.000 D 2.135 M -0.02 T -0.224 T 0.386 T 0.774 3.654 18.58 -0.747 -0.037 1.238 15.376 3.653729 3.653729 0 0.002791 0.000227 ID=COSM1450618;OCCURENCE=1(large_intestine) NA NA 15.3283424 172 7 143701389 143701389 A T exonic OR6B1 NA nonsynonymous SNV OR6B1:NM_001005281:exon1:c.A300T:p.Q100H exonic ENSG00000221813 NA nonsynonymous SNV ENSG00000221813:ENST00000408922:exon1:c.A300T:p.Q100H Score=295;Name=lod=21 NA 7q35 NA NA NA NA rs182442940 0.0023 0.0023 NA 0.00259585 0.004 NA 0.0086 0.0015 0.001 0.0013 NA 0.01 NA 0.0018 0.01 0 D 1.0 D 1.0 D 0.003 U 0.599 D 3.865 H 4.44 T -0.976 T 0.030 T 0.811 3.587 18.27 -3.13 -0.425 -1.271 13.911 3.587495 3.587495 0 0.002107 0.001631 NA 0.007 NA 15.3254264 173 2 228102723 228102723 G C exonic COL4A3 NA nonsynonymous SNV COL4A3:NM_000091:exon2:c.G127C:p.G43R exonic ENSG00000169031 NA nonsynonymous SNV ENSG00000169031:ENST00000396578:exon2:c.G127C:p.G43R NA NA 2q36.3 NA Name=FOXA1_(SC-101058) NA NA rs13424243 0.25 0.25 0.237 0.230232 0.3539 0.0516 0.2637 0.32 0.1421 0.35 0.07 0.27 0.29 0.2884 0.37 0.01 D 1.0 D 0.997 D 0.008 N 1.000 P 3.85 H -4.63 D -1.817 T 0.000 T 0.163 3.005 16.02 4.31 1.315 1.245 9.784 3.004856 3.004856 0 0.371296 0.306486 NA 0.217 NA 15.3197374 174 6 144184227 144184227 A C exonic LTV1 NA nonsynonymous SNV LTV1:NM_032860:exon10:c.A1121C:p.K374T exonic ENSG00000135521 NA nonsynonymous SNV ENSG00000135521:ENST00000367576:exon10:c.A1121C:p.K374T Score=432;Name=lod=76 NA 6q24.2 NA NA NA NA rs41285031 0.0023 0.0023 NA 0.00179712 0.0089 NA NA NA NA 0.01 NA NA NA 0.0042 0.01 0.18 T 0.899 P 0.826 P 0.000 D 1.000 D 2.85 M . . -0.452 T 0.310 T 0.514 3.653 18.57 4.45 0.965 5.846 11.336 3.653331 3.653331 0.01 0.005698 0.000454 NA NA NA 15.3145354 174 16 23702246 23702246 G C exonic ERN2 NA nonsynonymous SNV ERN2:NM_033266:exon22:c.C2831G:p.A944G exonic ENSG00000134398 NA nonsynonymous SNV ENSG00000134398:ENST00000457008:exon21:c.C2531G:p.A844G,ENSG00000134398:ENST00000256797:exon22:c.C2831G:p.A944G Score=401;Name=lod=57 NA 16p12.2 NA NA NA NA rs56129167 0.0023 0.0023 NA 0.00379393 0.007 NA 0.0072 NA 0.0072 0.004 NA 0.01 NA 0.0061 0.01 0 D 0.955 P 0.871 P 0.000 D 1.000 D 3.165 M 1.46 T -0.652 T 0.163 T 0.268 2.281 13.58 3.25 0.306 6.648 12.983 2.281059 2.281059 0.01 0.008605 0.001138 NA NA NA 15.3116284 174 1 29527028 29527028 G A exonic MECR NA nonsynonymous SNV MECR:NM_001024732:exon7:c.C602T:p.A201V,MECR:NM_016011:exon7:c.C830T:p.A277V exonic ENSG00000116353 NA nonsynonymous SNV ENSG00000116353:ENST00000463412:exon5:c.C449T:p.A150V,ENSG00000116353:ENST00000263702:exon7:c.C830T:p.A277V,ENSG00000116353:ENST00000373791:exon7:c.C602T:p.A201V Score=531;Name=lod=191 NA 1p35.3 Score=808;Name=V$TCF11MAFG_01 NA NA NA rs148978800 0.0018 0.0018 0.002 0.00179712 0.008 NA NA 0.0008 NA 0.01 NA NA NA 0.005 0.01 0.08 T 0.965 D 0.335 B 0.022 N 0.951 D 2.22 M 3.44 T -1.063 T 0.016 T 0.271 3.225 16.81 4.75 2.696 4.282 10.263 3.224512 3.224512 0.19 0.008721 0.000681 ID=COSM908048;OCCURENCE=1(endometrium) NA NA 15.3116124 174 17 38935876 38935876 C T exonic KRT27 NA nonsynonymous SNV KRT27:NM_181537:exon5:c.G850A:p.A284T exonic ENSG00000171446 NA nonsynonymous SNV ENSG00000171446:ENST00000301656:exon5:c.G850A:p.A284T Score=371;Name=lod=43 NA 17q21.2 NA Name=TBP,E2F6_(H-50) Name=12 NA rs17558532 0.14 0.14 0.11 0.161342 0.1849 0.0625 0.1571 0.1611 0.2423 0.19 0.05 0.17 0.13 0.1698 0.19 0.08 T 0.525 P 0.177 B 0.000 D 0.000 P 0.935 L -2.48 D -0.971 T 0.002 T 0.146 4.403 23.3 5.52 2.754 2.482 18.777 4.403329 4.403329 0.19 0.170814 0.173173 NA 0.159 NA 15.3078194 174 13 33629393 33629393 C T exonic KL NA nonsynonymous SNV KL:NM_004795:exon3:c.C1540T:p.P514S exonic ENSG00000133116 NA nonsynonymous SNV ENSG00000133116:ENST00000380099:exon3:c.C1540T:p.P514S,ENSG00000133116:ENST00000426690:exon3:c.C619T:p.P207S Score=412;Name=lod=63 NA 13q13.1 NA NA NA NA rs3752472 0.04 0.04 0.032 0.0389377 NA 0.0863 0.0692 0.028 0.0235 0.0013 0.07 0.06 0.03 0.0259 0.07 0.85 T 1.0 D 0.996 D 0.000 D 1.000 D 1.155 L 1.62 T -1.140 T 0.014 T 0.669 3.707 18.83 6.03 2.861 7.418 20.557 3.707344 3.707344 0.01 0.001163 0.009986 NA 0.022 NA 15.3062704 174 9 15874585 15874585 T G exonic CCDC171 NA nonsynonymous SNV CCDC171:NM_173550:exon24:c.T3524G:p.L1175R exonic ENSG00000164989 NA nonsynonymous SNV ENSG00000164989:ENST00000297641:exon24:c.T3524G:p.L1175R,ENSG00000164989:ENST00000380701:exon24:c.T3524G:p.L1175R Score=812;Name=lod=2661 NA 9p22.3 NA NA NA NA rs149814894 0.01 0.01 0.004 0.00678914 0.0109 NA 0.0058 NA 0.0194 0.01 NA 0.01 NA 0.0095 0.01 0.12 T 1.0 D 0.999 D 0.000 D 1.000 D 0.805 L 2.14 T -0.907 T 0.142 T 0.897 3.602 18.34 5.74 2.205 5.172 16.105 3.602189 3.602189 0 0.007093 0.001135 ID=COSM1235977,COSM1235976;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 15.3058404 175 7 129663496 129663496 C T exonic ZC3HC1 NA nonsynonymous SNV ZC3HC1:NM_016478:exon8:c.G1088A:p.R363H exonic ENSG00000091732 NA nonsynonymous SNV ENSG00000091732:ENST00000358303:exon8:c.G1088A:p.R363H,ENSG00000091732:ENST00000481503:exon8:c.G959A:p.R320H,ENSG00000091732:ENST00000311873:exon9:c.G1025A:p.R342H Score=457;Name=lod=96 Name=Coronary heart disease 7q32.2 Score=809;Name=V$ER_Q6 NA NA NA rs11556924 0.19 0.19 0.193 0.155751 0.3767 0.0496 0.2089 0.0265 0.1748 0.38 0.05 0.22 0.05 0.2729 0.38 0.48 T 1.0 D 0.959 D 0.000 D 0.000 P 1.79 L 1.28 T -0.984 T 0.000 T 0.287 4.497 24.1 5.49 2.590 2.567 16.096 4.49715 4.49715 0 0.382558 0.08148 NA 0.145 NA 15.3011754 175 6 97058553 97058553 A G exonic FHL5 NA nonsynonymous SNV FHL5:NM_001170807:exon5:c.A610G:p.R204G,FHL5:NM_020482:exon6:c.A610G:p.R204G exonic ENSG00000112214 NA nonsynonymous SNV ENSG00000112214:ENST00000450218:exon5:c.A610G:p.R204G,ENSG00000112214:ENST00000541107:exon5:c.A610G:p.R204G,ENSG00000112214:ENST00000326771:exon6:c.A610G:p.R204G Score=439;Name=lod=81 NA 6q16.1 NA NA NA NA rs2273621 0.39 0.39 0.423 0.398163 0.3519 0.3522 0.3026 0.5499 0.3558 0.34 0.35 0.35 0.56 0.3485 0.56 0.02 D 0.051 B 0.12 B 0.007 N 0.127 P 2.955 M -2.32 D 0.066 D 0.573 D 0.27 2.958 15.86 4.7 1.019 4.670 13.127 2.95837 2.95837 0 0.334419 0.506128 NA 0.449 NA 15.2985144 175 2 38298139 38298139 T C exonic CYP1B1 NA nonsynonymous SNV CYP1B1:NM_000104:exon3:c.A1358G:p.N453S exonic ENSG00000138061 NA nonsynonymous SNV ENSG00000138061:ENST00000260630:exon3:c.A1358G:p.N453S,ENSG00000138061:ENST00000407341:exon3:c.A1358G:p.N453S Score=502;Name=lod=146 NA 2p22.2 Score=953;Name=V$FOXO1_01 NA Name=9 NA rs1800440 0.1 0.1 0.078 0.0996406 0.1958 0.005 0.1311 0.0068 0.2014 0.2 0.01 0.16 0.01 0.1547 0.2 0.04 D 0.596 P 0.306 B 0.000 D 0.000 P 1.725 L -0.22 T -1.072 T 0.000 T 0.039 3.651 18.56 5.95 2.279 6.035 14.376 3.651256 3.651256 0.01 0.186977 0.033364 ID=COSM1408011;OCCURENCE=2(large_intestine) 0.109 NA 15.2958564 176 17 73263012 73263012 C T exonic MIF4GD NA nonsynonymous SNV MIF4GD:NM_001242501:exon5:c.G478A:p.E160K,MIF4GD:NM_001242500:exon6:c.G580A:p.E194K,MIF4GD:NM_001242498:exon7:c.G601A:p.E201K,MIF4GD:NM_020679:exon7:c.G580A:p.E194K exonic ENSG00000125457 NA nonsynonymous SNV ENSG00000125457:ENST00000579119:exon5:c.G565A:p.E189K,ENSG00000125457:ENST00000580571:exon5:c.G322A:p.E108K,ENSG00000125457:ENST00000325102:exon6:c.G478A:p.E160K,ENSG00000125457:ENST00000580717:exon6:c.G478A:p.E160K,ENSG00000125457:ENST00000245551:exon7:c.G580A:p.E194K,ENSG00000125457:ENST00000577542:exon7:c.G601A:p.E201K,ENSG00000125457:ENST00000579297:exon7:c.G601A:p.E201K Score=611;Name=lod=405 NA 17q25.1 Score=925;Name=V$LMO2COM_01 Name=Pol2-4H8,Pol2 Name=8 NA rs61739324 0.08 0.08 0.081 0.103435 0.001 0.0992 0.072 0.2133 0.0869 0.0026 0.06 0.07 0.25 0.0364 0.25 0.59 T 0.896 P 0.519 P . . 0.000 P 1.78 L 2.28 T -0.942 T 0.000 T 0.261 3.256 16.92 4.76 1.428 7.450 14.690 3.255635 3.255635 0.04 0.002791 0.154789 NA 0.109 NA 15.2931424 176 4 187518041 187518041 T C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon25:c.A12653G:p.D4218G exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon25:c.A12653G:p.D4218G Score=395;Name=lod=54 NA 4q35.2 NA NA NA NA rs72716244 0.01 0.01 0.011 0.00599042 0.0169 NA 0.0144 0.0008 0.002 0.01 NA 0.02 NA 0.0107 0.02 0.26 T 1.0 D 0.998 D 0.000 D 1.000 D 1.21 L -0.55 T -0.476 T 0.265 T 0.288 2.44 14.12 5.23 2.206 4.029 15.287 2.439535 2.439535 0.09 0.014268 0.001597 NA 0.087 NA 15.2914654 176 16 3458609 3458609 G A exonic ZNF174 NA nonsynonymous SNV ZNF174:NM_003450:exon3:c.G914A:p.R305Q exonic ENSG00000103343 NA nonsynonymous SNV ENSG00000103343:ENST00000268655:exon3:c.G914A:p.R305Q,ENSG00000103343:ENST00000571936:exon4:c.G914A:p.R305Q NA NA 16p13.3 NA Name=MafK_(SC-477),MafK_(ab50322),SETDB1,KAP1 NA NA rs11640177 0.01 0.01 0.01 0.00399361 0.0149 NA 0.0043 NA 0.002 0.02 NA 0.0028 NA 0.0116 0.02 0 D 1.0 D 0.982 D 0.021 N 1.000 D 0.695 N 5.47 T -0.543 T 0.004 T 0.375 2.086 12.93 4.11 2.604 2.178 12.151 2.086368 2.086368 0.33 0.017791 0.004779 NA NA NA 15.2890424 176 11 86663296 86663296 G A exonic FZD4 NA nonsynonymous SNV FZD4:NM_012193:exon2:c.C502T:p.P168S exonic ENSG00000174804 NA nonsynonymous SNV ENSG00000174804:ENST00000531380:exon2:c.C502T:p.P168S Score=581;Name=lod=306 NA 11q14.2 Score=900;Name=V$CEBPB_01 NA Name=50 NA rs61735303 0.01 0.01 0.007 0.0147764 0.0109 NA 0.0245 0.0076 0.0368 0.01 NA 0.02 0.01 0.0166 0.022 . . 0.146 B 0.024 B 0.000 D 1.000 D 0 N -1.46 T -0.771 T 0.156 T 0.309 2.898 15.66 5.82 2.760 6.399 20.100 2.897848 2.897848 0.02 0.018027 0.008632 NA 0.014 NA 15.2878064 176 3 136664737 136664737 C T exonic NCK1 NA nonsynonymous SNV NCK1:NM_001190796:exon2:c.C347T:p.A116V,NCK1:NM_006153:exon3:c.C539T:p.A180V exonic ENSG00000158092 NA nonsynonymous SNV ENSG00000158092:ENST00000469404:exon2:c.C347T:p.A116V,ENSG00000158092:ENST00000288986:exon3:c.C539T:p.A180V,ENSG00000158092:ENST00000481752:exon3:c.C539T:p.A180V Score=726;Name=lod=1195 NA 3q22.3 Score=686;Name=V$PPARG_02 NA NA NA rs13320485 0.01 0.01 0.006 0.00858626 0.0179 NA 0.0274 0.0023 0.0031 0.01 NA 0.03 0.01 0.0117 0.03 0.06 T 0.415 B 0.119 B 0.000 D 1.000 D 1.995 M -0.32 T -0.751 T 0.120 T 0.245 4.836 27.5 6.16 2.937 4.451 18.354 4.836165 4.836165 0.05 0.016628 0.002724 NA 0.014 NA 15.2871054 177 11 47599322 47599322 T C exonic KBTBD4 NA nonsynonymous SNV KBTBD4:NM_016506:exon2:c.A230G:p.N77S,KBTBD4:NM_018095:exon2:c.A278G:p.N93S exonic ENSG00000123444,ENSG00000231880 NA nonsynonymous SNV ENSG00000231880:ENST00000450908:exon1:c.T44C:p.V15A,ENSG00000123444:ENST00000533290:exon1:c.A305G:p.N102S,ENSG00000123444:ENST00000395288:exon2:c.A230G:p.N77S,ENSG00000123444:ENST00000430070:exon2:c.A278G:p.N93S,ENSG00000123444:ENST00000525720:exon2:c.A377G:p.N126S,ENSG00000123444:ENST00000526005:exon2:c.A230G:p.N77S,ENSG00000123444:ENST00000529499:exon2:c.A230G:p.N77S,ENSG00000123444:ENST00000529946:exon2:c.A230G:p.N77S,ENSG00000123444:ENST00000531067:exon2:c.A230G:p.N77S,ENSG00000123444:ENST00000534239:exon2:c.A305G:p.N102S Score=715;Name=lod=1078 NA 11p11.2 NA Name=ZNF274,eGFP-GATA2 Name=27 NA rs75352463 0.01 0.01 0.006 0.00519169 0.0219 NA 0.0029 NA 0.002 0.02 NA 0.0028 NA 0.012 0.02 0.06 T 0.271 B 0.148 B 0.000 D 1.000 D 1.1 L -0.5 T -0.733 T 0.133 T 0.355 3.06 16.21 5.43 2.047 7.647 15.468 3.059969 3.059969 0.01 0.01617 0.004089 NA 0.007 NA 15.2832634 178 5 112178795 112178795 G A exonic APC NA nonsynonymous SNV APC:NM_001127511:exon14:c.G7450A:p.G2484S,APC:NM_000038:exon16:c.G7504A:p.G2502S,APC:NM_001127510:exon17:c.G7504A:p.G2502S exonic ENSG00000134982 NA nonsynonymous SNV ENSG00000134982:ENST00000257430:exon16:c.G7504A:p.G2502S,ENSG00000134982:ENST00000457016:exon16:c.G7504A:p.G2502S,ENSG00000134982:ENST00000508376:exon17:c.G7504A:p.G2502S Score=366;Name=lod=41 NA 5q22.2 NA NA NA NA rs2229995 0.01 0.01 0.006 0.00838658 0.0209 NA 0.0043 0.0008 0.0174 0.02 NA 0.01 NA 0.0199 0.02 . . 0.234 B 0.156 B 0.000 D 0.995 D 0 N -1.71 D -0.723 T 0.172 T 0.191 2.886 15.62 5.95 2.825 2.616 11.309 2.8862 2.8862 0.23 0.02 0.00386 NA NA CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified|Adenomatous_polyposis_coli;CLNREVSTAT=mult|single|single;CLNACC=RCV000034399.2|RCV000077994.2|RCV000119135.1;CLNDSDB=.|.|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=.|.|NBK1345:CN074282:175100:ORPHA733:70921007 15.2725334 178 1 67450431 67450431 A G exonic MIER1 NA nonsynonymous SNV MIER1:NM_001077701:exon13:c.A1387G:p.R463G,MIER1:NM_001077700:exon14:c.A1546G:p.R516G,MIER1:NM_001146110:exon15:c.A1438G:p.R480G,MIER1:NM_001146112:exon15:c.A1306G:p.R436G,MIER1:NM_020948:exon15:c.A1438G:p.R480G exonic ENSG00000198160 NA nonsynonymous SNV ENSG00000198160:ENST00000355356:exon13:c.A1387G:p.R463G,ENSG00000198160:ENST00000401041:exon14:c.A1546G:p.R516G,ENSG00000198160:ENST00000357692:exon15:c.A1438G:p.R480G Score=498;Name=lod=141 NA 1p31.3 NA Name=BATF,NFKB,BCL11A Name=12 NA rs17129563 0.01 0.01 0.01 0.00658946 0.0209 NA 0.013 NA 0.0031 0.02 NA 0.01 NA 0.0149 0.026 0.2 T 0.156 B 0.016 B 0.000 D 1.000 D 0.55 N 0.53 T -1.073 T 0.055 T 0.254 2.628 14.75 5.55 2.236 4.302 14.582 2.628286 2.628286 0.01 0.026033 0.004355 NA NA NA 15.2715004 178 17 58824617 58824617 G A exonic BCAS3 NA nonsynonymous SNV BCAS3:NM_001099432:exon6:c.G380A:p.R127K,BCAS3:NM_017679:exon6:c.G380A:p.R127K exonic ENSG00000141376 NA nonsynonymous SNV ENSG00000141376:ENST00000408905:exon5:c.G380A:p.R127K,ENSG00000141376:ENST00000588462:exon5:c.G380A:p.R127K,ENSG00000141376:ENST00000390652:exon6:c.G380A:p.R127K,ENSG00000141376:ENST00000407086:exon6:c.G380A:p.R127K,ENSG00000141376:ENST00000588168:exon6:c.G380A:p.R127K,ENSG00000141376:ENST00000589222:exon6:c.G380A:p.R127K Score=584;Name=lod=315 NA 17q23.2 NA NA NA NA rs34431714 0.01 0.01 0.017 0.0091853 0.0229 0.002 0.0173 0.0008 0.0082 0.03 0.0017 0.01 NA 0.0191 0.03 0.15 T 0.974 D 0.969 D 0.000 D 1.000 D 1.205 L 3.24 T -1.194 T 0.018 T 0.262 3.357 17.31 5.47 2.585 6.859 14.883 3.356755 3.356755 0.15 0.02483 0.007547 NA NA NA 15.2665034 179 12 25311489 25311489 G T exonic CASC1 NA nonsynonymous SNV CASC1:NM_001082973:exon3:c.C97A:p.R33S,CASC1:NM_001082972:exon4:c.C289A:p.R97S,CASC1:NM_018272:exon4:c.C115A:p.R39S exonic ENSG00000118307 NA nonsynonymous SNV ENSG00000118307:ENST00000320267:exon3:c.C97A:p.R33S,ENSG00000118307:ENST00000354189:exon4:c.C289A:p.R97S,ENSG00000118307:ENST00000395987:exon4:c.C115A:p.R39S Score=401;Name=lod=57 NA 12p12.1 NA NA NA NA rs10842496 0.27 0.27 0.261 0.253794 0.3757 0.1925 0.3487 0.1293 0.2924 0.37 0.24 0.31 0.14 0.3321 0.37 0.02 D 1.0 D 0.999 D 0.000 D 0.000 P 2.125 M 1.99 T -1.027 T 0.000 T 0.302 3.402 17.49 5.42 2.535 3.836 14.726 3.401556 3.401556 0 0.36168 0.154562 NA 0.254 NA 15.2638534 179 19 2039727 2039727 C T exonic MKNK2 NA nonsynonymous SNV MKNK2:NM_199054:exon14:c.G1283A:p.R428Q exonic ENSG00000099875 NA nonsynonymous SNV ENSG00000099875:ENST00000589441:exon3:c.G341A:p.R114Q,ENSG00000099875:ENST00000541165:exon12:c.G890A:p.R297Q,ENSG00000099875:ENST00000591601:exon13:c.G1283A:p.R428Q,ENSG00000099875:ENST00000250896:exon14:c.G1283A:p.R428Q Score=618;Name=lod=432 NA 19p13.3 Score=730;Name=V$LUN1_01 Name=Pol2-4H8 Name=5 NA rs34475638 0.01 0.01 0.01 0.0107827 0.0338 NA 0.0159 NA 0.0092 0.03 NA 0.02 NA 0.0192 0.03 0.44 T 0.342 B 0.027 B 0.015 N 1.000 D 0.895 L -0.22 T -1.060 T 0.046 T 0.093 2.64 14.79 2.49 1.980 2.700 3.816 2.639543 2.639543 0.5 0.024546 0.003858 NA 0.014 NA 15.2557874 180 17 56348106 56348106 T C exonic MPO NA nonsynonymous SNV MPO:NM_000250:exon12:c.A2149G:p.I717V exonic ENSG00000005381 NA nonsynonymous SNV ENSG00000005381:ENST00000577220:exon3:c.A244G:p.I82V,ENSG00000005381:ENST00000340482:exon11:c.A2245G:p.I749V,ENSG00000005381:ENST00000225275:exon12:c.A2149G:p.I717V Score=462;Name=lod=101 NA 17q22 Score=761;Name=V$MEF2_01 Name=ZEB1_(SC-25388),CTCF_(SC-5916),ELF1_(SC-631),CTCF,GABP Name=11 NA rs2759 0.02 0.02 0.016 0.0133786 0.0298 NA 0.0245 0.0106 0.0061 0.02 NA 0.04 0.02 0.0247 0.043 1 T 0.118 B 0.117 B 0.000 D 0.995 D -0.19 N -0.15 T -1.038 T 0.024 T 0.092 0.87 8.528 4.24 2.137 0.614 10.034 0.870326 NA 0.52 0.028605 0.010894 NA 0.029 NA 15.2502284 180 20 42355169 42355169 G C exonic GTSF1L NA nonsynonymous SNV GTSF1L:NM_001008901:exon1:c.C166G:p.L56V,GTSF1L:NM_176791:exon1:c.C166G:p.L56V exonic ENSG00000124196 NA nonsynonymous SNV ENSG00000124196:ENST00000373003:exon1:c.C166G:p.L56V,ENSG00000124196:ENST00000373005:exon1:c.C166G:p.L56V Score=522;Name=lod=177 NA 20q13.12 NA NA NA NA rs17826038 0.02 0.02 0.013 0.014377 0.0328 NA 0.036 0.0015 0.0123 0.03 NA 0.04 0.002 0.0215 0.04 0.06 T 1.0 D 0.998 D 0.001 D 0.869 D 2.6 M -0.18 T -0.474 T 0.141 T 0.155 2.38 13.92 2.74 1.137 0.781 7.110 2.380239 2.380239 0.01 0.030349 0.006355 NA 0.014 NA 15.2486844 180 6 3012778 3012778 G A exonic NQO2 NA nonsynonymous SNV NQO2:NM_000904:exon4:c.G173A:p.G58D exonic ENSG00000124588 NA nonsynonymous SNV ENSG00000124588:ENST00000380430:exon4:c.G173A:p.G58D,ENSG00000124588:ENST00000380454:exon4:c.G173A:p.G58D,ENSG00000124588:ENST00000380455:exon4:c.G173A:p.G58D,ENSG00000124588:ENST00000380441:exon5:c.G173A:p.G58D,ENSG00000124588:ENST00000380472:exon5:c.G173A:p.G58D,ENSG00000124588:ENST00000397717:exon5:c.G173A:p.G58D,ENSG00000124588:ENST00000426637:exon6:c.G173A:p.G58D,ENSG00000124588:ENST00000338130:exon7:c.G173A:p.G58D Score=340;Name=lod=32 NA 6p25.2 NA NA NA NA rs17300141 0.02 0.02 0.015 0.0177716 0.0268 NA 0.0101 0.0015 0.0542 0.03 NA 0.01 0.0041 0.0294 0.03 . . 1.0 D 0.98 D 0.000 D 0.997 D 3.055 M 2.94 T -0.929 T 0.079 T 0.378 2.522 14.39 4.48 0.752 5.151 17.652 2.521675 2.521675 0 0.029767 0.004312 NA NA NA 15.2473664 181 6 4996543 4996543 C T exonic RPP40 NA nonsynonymous SNV RPP40:NM_006638:exon6:c.G671A:p.S224N exonic ENSG00000124787 NA nonsynonymous SNV ENSG00000124787:ENST00000319533:exon5:c.G602A:p.S201N,ENSG00000124787:ENST00000380051:exon6:c.G671A:p.S224N,ENSG00000124787:ENST00000464646:exon6:c.G491A:p.S164N Score=325;Name=lod=28 NA 6p25.1 Score=814;Name=V$PAX5_01 NA NA NA rs62385118 0.04 0.04 0.033 0.0465256 0.0278 0.0387 0.036 0.0673 0.0532 0.03 0.04 0.04 0.04 0.0343 0.065 0.5 T 0.074 B 0.034 B 0.000 D 0.986 D 2.48 M 0.94 T -1.022 T 0.070 T 0.267 1.412 10.66 4.45 1.223 2.169 14.398 1.412049 1.412049 0.01 0.03407 0.064458 NA 0.036 NA 15.2371634 182 3 184099050 184099050 C T exonic CHRD NA nonsynonymous SNV CHRD:NM_003741:exon3:c.C280T:p.P94S exonic ENSG00000090539 NA nonsynonymous SNV ENSG00000090539:ENST00000204604:exon3:c.C280T:p.P94S,ENSG00000090539:ENST00000348986:exon3:c.C280T:p.P94S,ENSG00000090539:ENST00000420973:exon3:c.C280T:p.P94S,ENSG00000090539:ENST00000450923:exon3:c.C280T:p.P94S Score=537;Name=lod=203 NA 3q27.1 Score=683;Name=V$P53_01 Name=E2F6_(H-50) Name=7 NA rs34095724 0.04 0.04 0.051 0.0389377 0.0378 0.002 0.0173 0.093 0.0204 0.04 0.0017 0.02 0.11 0.0335 0.11 0.43 T 0.004 B 0.014 B 0.001 D 1.000 D 0.205 N 2.83 T -0.888 T 0.000 T 0.079 -0.14 3.315 4.3 1.169 0.462 7.737 -0.140029 NA 0.72 0.033977 0.093097 NA 0.051 NA 15.2280564 183 1 29320013 29320013 G A exonic EPB41 NA nonsynonymous SNV EPB41:NM_001166005:exon3:c.G640A:p.V214I,EPB41:NM_001166006:exon3:c.G640A:p.V214I,EPB41:NM_001166007:exon3:c.G13A:p.V5I,EPB41:NM_203343:exon3:c.G640A:p.V214I,EPB41:NM_004437:exon4:c.G13A:p.V5I,EPB41:NM_203342:exon4:c.G13A:p.V5I exonic ENSG00000159023 NA nonsynonymous SNV ENSG00000159023:ENST00000343067:exon3:c.G640A:p.V214I,ENSG00000159023:ENST00000347529:exon3:c.G640A:p.V214I,ENSG00000159023:ENST00000356093:exon3:c.G640A:p.V214I,ENSG00000159023:ENST00000373797:exon3:c.G640A:p.V214I,ENSG00000159023:ENST00000373798:exon3:c.G640A:p.V214I,ENSG00000159023:ENST00000398863:exon3:c.G640A:p.V214I,ENSG00000159023:ENST00000349460:exon4:c.G13A:p.V5I,ENSG00000159023:ENST00000373800:exon4:c.G13A:p.V5I Score=560;Name=lod=252 NA 1p35.3 Score=691;Name=V$P53_01 Name=CEBPB NA NA rs111642750 0.02 0.02 0.013 0.0155751 0.0408 NA 0.0346 0.0023 0.0102 0.03 NA 0.03 0.0041 0.0341 0.051 . . 0.896 P 0.87 P 0.008 N 1.000 D 1.735 L -1.0 T -0.313 T 0.245 T 0.16 3.293 17.06 4.31 1.189 4.671 12.426 3.293288 3.293288 0 0.051395 0.011348 NA 0.094 NA 15.2070384 184 16 58318604 58318604 T C exonic PRSS54 NA nonsynonymous SNV PRSS54:NM_001080492:exon6:c.A544G:p.S182G exonic ENSG00000103023 NA nonsynonymous SNV ENSG00000103023:ENST00000543437:exon5:c.A247G:p.S83G,ENSG00000103023:ENST00000569079:exon5:c.A247G:p.S83G,ENSG00000103023:ENST00000219301:exon6:c.A544G:p.S182G,ENSG00000103023:ENST00000567164:exon6:c.A544G:p.S182G,ENSG00000103023:ENST00000569727:exon6:c.A544G:p.S182G Score=519;Name=lod=172 NA 16q21 Score=901;Name=V$OCT1_06 Name=Egr-1,USF-1 Name=7 NA rs3815803 0.53 0.53 0.546 0.536941 0.5537 0.3929 0.3718 0.767 0.4744 0.56 0.37 0.41 0.73 0.5209 0.74 0.46 T 0.767 P 0.262 B 0.000 D 0.512 P 1.92 M 0.29 T -0.948 T 0.000 T 0.375 1.189 9.832 3.28 1.046 1.893 7.458 1.188593 NA 0.12 0.558256 0.742721 ID=COSM148088;OCCURENCE=1(stomach) 0.58 NA 15.2004774 185 22 26222454 26222454 C T exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon14:c.C2774T:p.S925L exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000335473:exon14:c.C2774T:p.S925L,ENSG00000133454:ENST00000407587:exon14:c.C2774T:p.S925L,ENSG00000133454:ENST00000536101:exon14:c.C2774T:p.S925L Score=361;Name=lod=39 NA 22q12.1 Score=850;Name=V$ZID_01 NA NA NA rs9624909 0.16 0.16 0.141 0.140974 0.2386 NA 0.1801 0.1838 0.1002 0.25 0.0035 0.21 0.18 0.1851 0.25 0.07 T 0.982 D 0.842 P 0.000 D 0.001 P 1.78 L -2.32 D -1.289 T 0.000 T 0.596 4.398 23.3 4.26 1.923 4.541 15.248 4.397818 4.397818 0 0.217124 0.18932 NA 0.203 NA 15.1925094 185 10 91522548 91522548 A G exonic KIF20B NA nonsynonymous SNV KIF20B:NM_016195:exon29:c.A4825G:p.K1609E exonic ENSG00000138182 NA nonsynonymous SNV ENSG00000138182:ENST00000260753:exon29:c.A4825G:p.K1609E,ENSG00000138182:ENST00000371728:exon29:c.A4945G:p.K1649E,ENSG00000138182:ENST00000394289:exon29:c.A4945G:p.K1649E,ENSG00000138182:ENST00000416354:exon29:c.A5035G:p.K1679E Score=459;Name=lod=98 NA 10q23.31 Score=963;Name=V$NKX25_02 NA NA NA rs34354493 0.12 0.12 0.119 0.10643 0.2276 0.001 0.1801 0.0098 0.1687 0.23 0.0017 0.2 0.02 0.1845 0.23 0 D 0.971 D 0.814 P 0.001 N 0.000 P 2.095 M 0.24 T -1.172 T 0.000 T 0.255 5.019 29.6 6.06 2.324 8.147 15.592 5.019322 5.019322 0 0.233953 0.051748 NA 0.145 NA 15.1872804 186 17 28505174 28505174 A C exonic NSRP1 NA nonsynonymous SNV NSRP1:NM_001261467:exon3:c.A95C:p.K32T,NSRP1:NM_032141:exon4:c.A257C:p.K86T exonic ENSG00000126653 NA nonsynonymous SNV ENSG00000126653:ENST00000585881:exon3:c.A95C:p.K32T,ENSG00000126653:ENST00000588614:exon3:c.A95C:p.K32T,ENSG00000126653:ENST00000247026:exon4:c.A257C:p.K86T,ENSG00000126653:ENST00000580103:exon4:c.A95C:p.K32T Score=633;Name=lod=497 NA 17q11.2 NA NA NA NA rs11544945 0.03 0.03 0.017 0.0211661 0.0666 0.001 0.036 0.0038 0.0082 0.06 0.0017 0.04 0.01 0.0369 0.06 0.02 D 0.992 D 0.938 D 0.000 D 1.000 D 1.33 L 0.83 T -1.045 T 0.030 T 0.158 3.723 18.91 3.9 0.829 3.209 9.493 3.723239 3.723239 0.01 0.0569 0.011575 NA 0.014 NA 15.1729334 186 12 10163375 10163375 C A exonic CLEC12B NA nonsynonymous SNV CLEC12B:NM_001129998:exon1:c.C17A:p.T6N,CLEC12B:NM_205852:exon1:c.C17A:p.T6N exonic ENSG00000256660 NA nonsynonymous SNV ENSG00000256660:ENST00000338896:exon1:c.C17A:p.T6N,ENSG00000256660:ENST00000396502:exon1:c.C17A:p.T6N,ENSG00000256660:ENST00000539155:exon1:c.C17A:p.T6N,ENSG00000256660:ENST00000544853:exon1:c.C17A:p.T6N Score=395;Name=lod=54 NA 12p13.2 NA NA NA NA rs1359082 0.34 0.34 0.346 0.3125 0.4245 0.1538 0.3775 0.3896 0.2106 0.43 0.15 0.38 0.39 0.3527 0.43 0.02 D 1.0 D 0.998 D 0.000 D 0.000 P 2.125 M 4.73 T -0.857 T 0.000 T 0.317 3.543 18.07 4.88 2.652 1.818 14.269 3.542762 3.542762 0.28 0.384419 0.373808 NA 0.413 NA 15.1717144 186 14 20846950 20846950 C T exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon37:c.G5315A:p.R1772Q exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000545983:exon8:c.G329A:p.R110Q,ENSG00000129566:ENST00000555008:exon25:c.G3344A:p.R1115Q,ENSG00000129566:ENST00000556935:exon35:c.G4991A:p.R1664Q,ENSG00000129566:ENST00000262715:exon37:c.G5315A:p.R1772Q Score=448;Name=lod=88 NA 14q11.2 Score=762;Name=V$YY1_02 NA NA NA rs8022805 0.03 0.03 0.029 0.0307508 0.0586 NA 0.0303 0.003 0.0716 0.07 NA 0.03 NA 0.0495 0.07 0.26 T 1.0 D 0.96 D 0.000 D 0.990 D 1.135 L 0.29 T -1.041 T 0.028 T 0.522 4.29 22.4 4.87 2.724 0.601 9.735 4.290462 4.290462 0.17 0.057791 0.010894 NA 0.007 NA 15.1674424 187 4 25125703 25125703 C G exonic SEPSECS NA nonsynonymous SNV SEPSECS:NM_016955:exon11:c.G1356C:p.K452N exonic ENSG00000109618 NA nonsynonymous SNV ENSG00000109618:ENST00000302922:exon10:c.G1119C:p.K373N,ENSG00000109618:ENST00000382103:exon11:c.G1356C:p.K452N Score=557;Name=lod=244 NA 4p15.2 NA NA NA NA rs2302566 0.1 0.1 0.096 0.11222 0.0567 0.1101 0.1095 0.1626 0.1053 0.06 0.11 0.1 0.15 0.0668 0.15 0.19 T 0.995 D 0.912 D 0.000 D 0.000 P 2.395 M -1.64 D -0.825 T 0.008 T 0.054 3.362 17.33 1.05 0.244 1.045 2.888 3.361994 3.361994 0.11 0.045708 0.137767 NA 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118326.1;CLNDSDB=.;CLNDSDBID=. 15.1641254 187 16 1272750 1272750 G A exonic TPSG1 NA nonsynonymous SNV TPSG1:NM_012467:exon4:c.C413T:p.S138F exonic ENSG00000116176 NA nonsynonymous SNV ENSG00000116176:ENST00000234798:exon4:c.C413T:p.S138F NA NA 16p13.3 NA NA NA NA rs113856625 0.03 0.03 0.023 0.0271565 0.0557 NA 0.0375 NA 0.0552 0.06 NA 0.04 NA 0.0535 0.065 0 D 0.999 D 0.939 D . . 0.573 N 3.67 H -3.43 D 0.025 D 0.512 D 0.195 2.97 15.9 2.47 0.519 0.774 10.531 2.969525 2.969525 0.01 0.065116 0.010687 ID=COSM434651;OCCURENCE=1(breast) 0.043 NA 15.1590174 187 17 39619115 39619115 G A exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon6:c.C1184T:p.T395M exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon6:c.C1184T:p.T395M Score=412;Name=lod=63 NA 17q21.2 NA NA NA NA rs2071563 0.4 0.4 0.372 0.36881 0.4245 0.3363 0.402 0.4259 0.2444 0.43 0.36 0.35 0.43 0.3754 0.43 0.01 D 1.0 D 1.0 D 0.001 N 0.285 P 3.625 H -2.95 D -1.530 T 0.000 T 0.395 3.401 17.48 5.07 2.493 2.380 17.801 3.400513 3.400513 0.01 0.375116 0.410576 NA 0.413 NA 15.1583174 187 14 24534916 24534916 G T exonic LRRC16B NA nonsynonymous SNV LRRC16B:NM_138360:exon34:c.G3482T:p.G1161V exonic ENSG00000186648 NA nonsynonymous SNV ENSG00000186648:ENST00000342740:exon34:c.G3482T:p.G1161V Score=366;Name=lod=41 NA 14q11.2 NA NA NA NA rs79328356 0.03 0.03 0.026 0.0195687 0.0616 0.003 0.0245 0.003 0.0123 0.06 0.0017 0.03 0.0041 0.0476 0.067 0.01 D 1.0 D 0.998 D 0.005 N 1.000 D 0.55 N 2.25 T -1.150 T 0.006 T 0.242 3.645 18.54 4.51 1.272 1.806 9.756 3.645209 3.645209 0.01 0.066744 0.014299 NA 0.007 NA 15.1573894 188 20 44352620 44352620 G A exonic SPINT4 NA nonsynonymous SNV SPINT4:NM_178455:exon2:c.G217A:p.G73S exonic ENSG00000149651 NA nonsynonymous SNV ENSG00000149651:ENST00000279058:exon2:c.G217A:p.G73S Score=381;Name=lod=47 NA 20q13.12 Score=887;Name=V$RFX1_02 NA NA NA rs6017667 0.47 0.47 0.488 0.519768 0.3857 0.4742 0.3199 0.7231 0.5716 0.36 0.48 0.35 0.74 0.4262 0.74 0 D 1.0 D 1.0 D 0.000 D 0.296 P . . -0.36 T -0.881 T 0.000 T 0.296 2.927 15.75 4.47 2.486 3.976 12.851 2.926993 2.926993 0 0.374767 0.641171 NA 0.442 NA 15.1466664 189 2 3392295 3392295 A G exonic TRAPPC12 NA nonsynonymous SNV TRAPPC12:NM_016030:exon2:c.A901G:p.S301G exonic ENSG00000171853 NA nonsynonymous SNV ENSG00000171853:ENST00000324266:exon2:c.A901G:p.S301G,ENSG00000171853:ENST00000382110:exon2:c.A901G:p.S301G Score=556;Name=lod=242 NA 2p25.3 NA NA NA NA rs11686212 0.44 0.44 0.425 0.467851 0.4006 0.6081 0.3141 0.4175 0.5695 0.39 0.61 0.35 0.4 0.4144 0.61 0.02 D 0.998 D 0.969 D 0.000 D 0.000 P 2.215 M 0.24 T -0.854 T 0.000 T 0.258 4.89 28.1 5.07 2.248 8.568 14.455 4.889728 4.889728 0 0.37407 0.412846 ID=COSM442851;OCCURENCE=2(breast) 0.493 NA 15.1442634 189 2 197521750 197521750 G A exonic CCDC150 NA nonsynonymous SNV CCDC150:NM_001080539:exon4:c.G466A:p.E156K exonic ENSG00000144395 NA nonsynonymous SNV ENSG00000144395:ENST00000472405:exon3:c.G157A:p.E53K,ENSG00000144395:ENST00000389175:exon4:c.G466A:p.E156K Score=474;Name=lod=113 NA 2q33.1 NA NA NA NA rs34133636 0.08 0.08 0.065 0.105431 0.0596 0.0238 0.0634 0.1929 0.1483 0.06 0.03 0.07 0.15 0.0788 0.16 0.4 T 1.0 D 0.994 D 0.000 D 0.000 P 1.935 M 1.54 T -1.093 T 0.001 T 0.439 2.179 13.24 3.88 1.199 4.205 12.594 2.178777 2.178777 0 0.053309 0.160051 ID=COSM149033;OCCURENCE=1(stomach) 0.188 NA 15.1416244 190 9 104152846 104152846 G A exonic MRPL50 NA nonsynonymous SNV MRPL50:NM_019051:exon2:c.C379T:p.L127F exonic ENSG00000136897 NA nonsynonymous SNV ENSG00000136897:ENST00000374865:exon2:c.C379T:p.L127F Score=525;Name=lod=181 NA 9q31.1 NA NA NA NA rs8131 0.06 0.06 0.056 0.0654952 0.0736 0.1111 0.0375 0.0038 0.1135 0.07 0.11 0.04 0.01 0.0658 0.11 0.05 D 0.999 D 0.972 D 0.007 N 0.000 P 2.215 M 0.8 T -1.008 T 0.009 T 0.177 3.688 18.74 4.96 2.793 1.279 15.775 3.687591 3.687591 0.07 0.064798 0.011802 NA 0.065 NA 15.1291354 190 3 167068256 167068256 T A exonic ZBBX NA nonsynonymous SNV ZBBX:NM_001199201:exon9:c.A480T:p.K160N,ZBBX:NM_001199202:exon9:c.A393T:p.K131N,ZBBX:NM_024687:exon9:c.A480T:p.K160N exonic ENSG00000169064 NA nonsynonymous SNV ENSG00000169064:ENST00000307529:exon6:c.A480T:p.K160N,ENSG00000169064:ENST00000392767:exon6:c.A480T:p.K160N,ENSG00000169064:ENST00000455345:exon8:c.A480T:p.K160N,ENSG00000169064:ENST00000474464:exon8:c.A480T:p.K160N,ENSG00000169064:ENST00000392764:exon9:c.A393T:p.K131N,ENSG00000169064:ENST00000392766:exon9:c.A480T:p.K160N Score=542;Name=lod=212 NA 3q26.1 NA Name=SMC3_(ab9263),CTCF_(SC-5916),Rad21,CTCF Name=52 NA rs4619784 0.27 0.27 0.26 0.255192 0.4076 0.1756 0.3343 0.0756 0.3671 0.4 0.18 0.35 0.12 0.3725 0.43 0.01 D 0.997 D 0.972 D 0.089 U 0.033 P 1.1 L 1.54 T -0.920 T 0.000 T 0.162 4.066 20.9 5.54 2.101 2.674 13.640 4.065775 4.065775 0.01 0.426362 0.130867 NA 0.326 NA 15.1268714 191 16 56660816 56660816 G A exonic MT1E NA nonsynonymous SNV MT1E:NM_175617:exon3:c.G119A:p.G40D exonic ENSG00000169715 NA nonsynonymous SNV ENSG00000169715:ENST00000568293:exon2:c.G53A:p.G18D,ENSG00000169715:ENST00000306061:exon3:c.G119A:p.G40D Score=532;Name=lod=194 NA 16q12.2 NA Name=Pol2 NA NA rs72818417 0.04 0.04 0.024 0.0375399 0.0775 NA 0.0648 0.0008 0.0654 0.08 NA 0.06 0.002 0.0691 0.08 0.02 D 0.854 P 0.746 P . . 1.000 D . . 2.89 T -1.162 T 0.003 T 0.274 1.955 12.49 2.39 1.334 4.596 6.545 1.955021 1.955021 0.02 0.076279 0.015469 NA 0.123 NA 15.1104544 191 14 20444026 20444026 T G exonic OR4K15 NA nonsynonymous SNV OR4K15:NM_001005486:exon1:c.T349G:p.S117A exonic ENSG00000169488 NA nonsynonymous SNV ENSG00000169488:ENST00000305051:exon1:c.T349G:p.S117A Score=243;Name=lod=13 NA 14q11.2 NA NA NA NA rs3861513 0.18 0.18 0.164 0.218251 0.2227 0.123 0.1715 0.2141 0.3507 0.23 0.12 0.18 0.19 0.2369 0.27 0.01 D 0.998 D 0.872 P 0.000 D 0.976 P 3.31 M 5.82 T -0.992 T 0.000 T 0.141 2.823 15.4 3.8 1.578 1.743 10.536 2.823282 2.823282 0.01 0.265589 0.240127 NA 0.196 NA 15.1081444 192 2 233243586 233243586 C T exonic ALPP NA nonsynonymous SNV ALPP:NM_001632:exon1:c.C74T:p.P25L exonic ENSG00000163283 NA nonsynonymous SNV ENSG00000163283:ENST00000392027:exon1:c.C74T:p.P25L NA NA 2q37.1 NA NA NA NA rs1130335 0.1 0.1 0.069 0.0844649 0.0726 0.2153 0.0533 0.025 0.0644 0.08 0.21 0.04 0.03 0.0819 0.21 0.03 D 1.0 D 0.994 D 0.000 D 0.148 P 2.815 M -1.75 D -1.033 T 0.002 T 0.106 2.46 14.18 1.8 1.299 -0.094 7.512 2.459635 2.459635 0.03 0.081163 0.041534 NA 0.152 CLINSIG=non-pathogenic|pathogenic;CLNDBN=ALKALINE_PHOSPHATASE\x2c_PLACENTAL\x2c_ALLELE-1_POLYMORPHISM|ALPP*1,ALKALINE_PHOSPHATASE\x2c_PLACENTAL\x2c_ALLELE-3_POLYMORPHISM|ALPP*3;CLNREVSTAT=single|single,single|single;CLNACC=RCV000014644.1|RCV000014645.24,RCV000014646.1|RCV000014647.24;CLNDSDB=.|.,.|.;CLNDSDBID=.|.,.|. 15.0976704 193 7 142750147 142750147 C T exonic OR6V1 NA nonsynonymous SNV OR6V1:NM_001001667:exon1:c.C710T:p.S237F exonic ENSG00000225781 NA nonsynonymous SNV ENSG00000225781:ENST00000418316:exon1:c.C710T:p.S237F Score=317;Name=lod=26 NA 7q34 NA NA NA NA rs10245778 0.08 0.08 0.079 0.081869 0.0815 0.0347 0.0663 0.1225 0.0869 0.07 0.04 0.08 0.13 0.0803 0.13 0 D 1.0 D 1.0 D . . 0.989 P 3.115 M 8.15 T -0.909 T 0.000 T 0.126 2.555 14.5 3.84 1.216 1.563 10.300 2.555326 2.555326 0 0.082678 0.122803 NA 0.058 NA 15.0888554 194 3 10331457 10331457 G T exonic GHRL NA nonsynonymous SNV GHRL:NM_001134944:exon2:c.C178A:p.L60M,GHRL:NM_001134945:exon2:c.C175A:p.L59M,GHRL:NM_001134941:exon3:c.C211A:p.L71M,GHRL:NM_016362:exon3:c.C214A:p.L72M exonic ENSG00000157017 NA nonsynonymous SNV ENSG00000157017:ENST00000422159:exon2:c.C214A:p.L72M,ENSG00000157017:ENST00000437422:exon2:c.C178A:p.L60M,ENSG00000157017:ENST00000449238:exon2:c.C175A:p.L59M,ENSG00000157017:ENST00000449554:exon3:c.C211A:p.L71M,ENSG00000157017:ENST00000450603:exon3:c.C214A:p.L72M,ENSG00000157017:ENST00000287656:exon4:c.C211A:p.L71M,ENSG00000157017:ENST00000335542:exon4:c.C214A:p.L72M,ENSG00000157017:ENST00000429122:exon4:c.C214A:p.L72M,ENSG00000157017:ENST00000430179:exon4:c.C211A:p.L71M,ENSG00000157017:ENST00000457360:exon4:c.C214A:p.L72M Score=259;Name=lod=15 NA 3p25.3 NA NA NA NA rs696217 0.09 0.09 0.099 0.0832668 0.0875 0.1915 0.0476 0.0091 0.093 0.08 0.19 0.06 0.01 0.0856 0.19 0.13 T 1.0 D 0.999 D 0.068 N 0.000 P 2.34 M 1.38 T -1.041 T 0.001 T 0.323 2.305 13.66 3.44 2.261 1.622 8.378 2.30467 2.30467 0.02 0.077093 0.02315 NA 0.087 CLINSIG=pathogenic|other;CLNDBN=Obesity\x2c_age_at_onset_of|Metabolic_syndrome\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000005365.1|RCV000005366.1;CLNDSDB=.|.;CLNDSDBID=.|. 15.0831404 194 2 24439048 24439048 A G exonic ITSN2 NA nonsynonymous SNV ITSN2:NM_019595:exon31:c.T3779C:p.I1260T,ITSN2:NM_006277:exon32:c.T3860C:p.I1287T exonic ENSG00000198399 NA nonsynonymous SNV ENSG00000198399:ENST00000361999:exon31:c.T3779C:p.I1260T,ENSG00000198399:ENST00000355123:exon32:c.T3860C:p.I1287T Score=440;Name=lod=82 NA 2p23.3 Score=787;Name=V$COMP1_01 NA NA NA rs3731625 0.07 0.07 0.068 0.0654952 0.0895 0.0784 0.0548 0.0401 0.0695 0.09 0.08 0.07 0.05 0.0785 0.09 0.01 D 0.4 B 0.382 B 0.080 U 1.000 D 3.065 M -0.46 T -0.704 T 0.034 T 0.347 3.883 19.74 5.38 2.189 8.850 15.759 3.883479 3.883479 0 0.083721 0.047662 ID=COSM148811;OCCURENCE=1(stomach) 0.036 NA 15.0816124 195 10 129690826 129690826 A T exonic CLRN3 NA nonsynonymous SNV CLRN3:NM_152311:exon1:c.T223A:p.F75I exonic ENSG00000180745 NA nonsynonymous SNV ENSG00000180745:ENST00000368671:exon1:c.T223A:p.F75I Score=371;Name=lod=43 NA 10q26.2 NA NA NA NA rs35070529 0.05 0.05 0.042 0.0365415 0.1083 NA 0.062 0.0106 0.0174 0.1 NA 0.06 0.02 0.0651 0.1 0.32 T 1.0 D 0.999 D 0.000 D 0.000 P 2.31 M -1.12 T -0.644 T 0.044 T 0.269 3.113 16.4 5.52 2.323 4.942 13.273 3.113079 3.113079 0 0.091977 0.017703 NA 0.116 NA 15.0679564 196 12 31256517 31256517 C T exonic DDX11 NA nonsynonymous SNV DDX11:NM_004399:exon25:c.C2393T:p.A798V,DDX11:NM_001257145:exon26:c.C2465T:p.A822V,DDX11:NM_030653:exon26:c.C2543T:p.A848V exonic ENSG00000013573 NA nonsynonymous SNV ENSG00000013573:ENST00000350437:exon25:c.C2393T:p.A798V,ENSG00000013573:ENST00000228264:exon26:c.C2465T:p.A822V,ENSG00000013573:ENST00000542838:exon26:c.C2543T:p.A848V Score=511;Name=lod=159 NA 12p11.21 Score=924;Name=V$HOXA3_01 NA NA NA rs140335402 0.05 0.05 NA 0.0423323 0.1113 0.002 0.0778 0.0098 0.0317 0.1 0.0017 0.08 0.02 0.0725 0.1 0.01 D 1.0 D 0.999 D 0.489 N 0.000 P 1.385 L -0.8 T -1.053 T 0.005 T . 0.074 4.403 3.14 1.582 6.568 11.816 0.074498 NA 0 0.099324 0.016018 ID=COSM1318019,COSM1318020;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 15.0502094 197 5 78181477 78181477 C T exonic ARSB NA nonsynonymous SNV ARSB:NM_000046:exon5:c.G1072A:p.V358M,ARSB:NM_198709:exon6:c.G1072A:p.V358M exonic ENSG00000113273 NA nonsynonymous SNV ENSG00000113273:ENST00000264914:exon5:c.G1072A:p.V358M,ENSG00000113273:ENST00000396151:exon6:c.G1072A:p.V358M,ENSG00000113273:ENST00000565165:exon6:c.G1072A:p.V358M Score=272;Name=lod=17 NA 5q14.1 NA NA NA NA rs1065757 0.34 0.34 0.301 0.285543 0.4662 0.372 0.4294 0.0371 0.2444 0.45 0.39 0.43 0.04 0.3907 0.45 0.13 T 1.0 D 0.994 D 0.000 D 0.000 P 1.57 L -4.96 D -1.542 T 0.000 T 0.323 4.122 21.3 5.46 2.555 3.985 18.284 4.12179 4.12179 0.13 0.432442 0.114389 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000077997.1;CLNDSDB=.;CLNDSDBID=. 15.0439914 197 6 136589448 136589448 C A exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon10:c.G2243T:p.R748L,BCLAF1:NM_001077441:exon10:c.G1730T:p.R577L,BCLAF1:NM_014739:exon10:c.G2249T:p.R750L exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon8:c.G2243T:p.R748L,ENSG00000029363:ENST00000353331:exon10:c.G2243T:p.R748L,ENSG00000029363:ENST00000527536:exon10:c.G2249T:p.R750L,ENSG00000029363:ENST00000527759:exon10:c.G2243T:p.R748L,ENSG00000029363:ENST00000530767:exon10:c.G1730T:p.R577L,ENSG00000029363:ENST00000531224:exon10:c.G2249T:p.R750L Score=683;Name=lod=793 NA 6q23.3 NA NA NA NA rs78267720 NA NA 0.128 NA NA NA NA NA NA NA NA NA NA 0.2922 NA 0.21 T 0.998 D 0.965 D 0.000 D 1.000 D 1.495 L 2.54 T -1.158 T 0.049 T 0.752 3.53 18.02 4.97 2.478 4.587 16.767 3.529872 3.529872 0.09 NA NA NA NA NA 15.0411334 197 6 31118898 31118898 A T exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon5:c.T695A:p.L232Q,CCHCR1:NM_001105564:exon5:c.T803A:p.L268Q,CCHCR1:NM_019052:exon5:c.T536A:p.L179Q exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000507459:exon4:c.T232A:p.C78S,ENSG00000204536:ENST00000508852:exon4:c.T232A:p.C78S,ENSG00000204536:ENST00000512418:exon4:c.T124A:p.C42S,ENSG00000204536:ENST00000376266:exon5:c.T536A:p.L179Q,ENSG00000204536:ENST00000396263:exon5:c.T536A:p.L179Q,ENSG00000204536:ENST00000396268:exon5:c.T803A:p.L268Q,ENSG00000204536:ENST00000448141:exon5:c.T428A:p.L143Q,ENSG00000204536:ENST00000448162:exon5:c.T536A:p.L179Q,ENSG00000204536:ENST00000451521:exon5:c.T695A:p.L232Q,ENSG00000204536:ENST00000508683:exon5:c.T428A:p.L143Q Score=265;Name=lod=16 NA 6p21.33 NA NA NA NA rs11540822 0.08 0.08 0.043 0.0640974 0.1123 0.0347 0.134 0.0076 0.0716 0.12 0.04 0.14 0.01 0.0955 0.14 0.01 D 1.0 D 0.999 D 0.380 N 0.924 P 2.08 M 3.51 T -1.125 T 0.031 T 0.482 2.905 15.68 4.34 1.638 4.235 10.012 2.90538 2.90538 0 0.085456 0.023541 NA 0.022 NA 15.0400774 197 2 71163086 71163086 T C exonic ATP6V1B1 NA nonsynonymous SNV ATP6V1B1:NM_001692:exon1:c.T2C:p.M1T exonic ENSG00000116039 NA nonsynonymous SNV ENSG00000116039:ENST00000234396:exon1:c.T2C:p.M1T,ENSG00000116039:ENST00000412314:exon1:c.T2C:p.M1T,ENSG00000116039:ENST00000432367:exon1:c.T2C:p.M1T Score=309;Name=lod=24 NA 2p13.3 NA NA NA NA rs11681642 0.39 0.39 0.382 0.36881 0.4473 0.3591 0.2939 0.3714 0.3476 0.46 0.36 0.31 0.4 0.4095 0.46 0 D 0.826 P 0.599 P 0.000 D 1.000 P . . -1.61 D -1.075 T 0.000 T 0.381 2.252 13.49 4.9 1.834 2.696 12.500 2.251676 2.251676 0 0.436512 0.373128 NA 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037207.1;CLNDSDB=.;CLNDSDBID=. 15.0400214 197 7 47913560 47913560 G T exonic PKD1L1 NA nonsynonymous SNV PKD1L1:NM_138295:exon24:c.C3833A:p.P1278Q exonic ENSG00000158683 NA nonsynonymous SNV ENSG00000158683:ENST00000289672:exon24:c.C3833A:p.P1278Q Score=272;Name=lod=17 NA 7p12.3 Score=726;Name=V$PPARG_01 NA Name=67 NA rs78833972 0.07 0.07 0.054 0.0922524 0.0905 0.0823 0.1643 0.003 0.1738 0.09 0.07 0.13 0.002 0.1077 0.13 0.06 T 1.0 D 0.997 D 0.010 N 0.000 P 1.845 L -0.29 T -0.904 T 0.008 T 0.186 3.221 16.79 4.28 2.300 1.433 15.005 3.220644 3.220644 0.08 0.098605 0.018384 NA 0.036 NA 15.0365284 197 1 207109116 207109116 C T exonic PIGR NA nonsynonymous SNV PIGR:NM_002644:exon5:c.G1093A:p.G365S exonic ENSG00000162896 NA nonsynonymous SNV ENSG00000162896:ENST00000356495:exon5:c.G1093A:p.G365S Score=349;Name=lod=35 NA 1q32.1 Score=734;Name=V$SEF1_C Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(SC-5916),YY1_(C-20) Name=63 NA rs2275531 0.35 0.35 0.339 0.296326 0.4563 0.3284 0.3271 0.1944 0.2147 0.45 0.31 0.37 0.23 0.3833 0.46 0.13 T 1.0 D 1.0 D 0.001 N 0.357 P 2.305 M 3.66 T -0.911 T 0.000 T 0.07 2.778 15.25 4.64 1.352 0.601 8.687 2.77791 2.77791 0.13 0.457907 0.218665 ID=COSM425158;OCCURENCE=1(breast) 0.449 NA 15.0358264 198 16 57735900 57735900 G C exonic CCDC135 NA nonsynonymous SNV CCDC135:NM_032269:exon5:c.G557C:p.C186S exonic ENSG00000159625 NA nonsynonymous SNV ENSG00000159625:ENST00000569167:exon4:c.G146C:p.C49S,ENSG00000159625:ENST00000394337:exon5:c.G557C:p.C186S,ENSG00000159625:ENST00000360716:exon6:c.G557C:p.C186S Score=433;Name=lod=77 NA 16q21 Score=830;Name=V$ISRE_01 Name=PU.1 Name=6 NA rs7196016 0.28 0.28 0.275 0.284545 0.2604 0.376 0.2824 0.2368 0.2812 0.27 0.38 0.27 0.19 0.285 0.38 0.28 T 0.585 P 0.12 B 0.000 D 0.000 P 0.735 N 0.41 T -0.951 T 0.000 T 0.499 2.172 13.22 4.11 1.095 9.207 14.472 2.171631 2.171631 0.19 0.253256 0.263876 NA 0.196 NA 15.0346774 198 2 170003432 170003432 T G exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon69:c.A12628C:p.I4210L exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon69:c.A12628C:p.I4210L Score=536;Name=lod=202 NA 2q31.1 NA NA NA NA rs4667591 0.54 0.54 0.5 0.555911 0.7932 0.4901 0.7277 0.146 0.8119 0.79 0.45 0.72 0.14 0.7176 0.79 0.03 D 0.995 D 0.992 D 0.000 N 0.000 P 3.105 M -3.03 D -0.903 T 0.000 T 0.301 4.841 27.5 4.5 0.957 6.284 12.950 4.841405 4.841405 0.07 0.790116 0.24217 ID=COSM1401028;OCCURENCE=1(large_intestine) 0.587 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117509.2;CLNDSDB=.;CLNDSDBID=. 15.0324174 199 2 138759649 138759649 C T exonic HNMT NA nonsynonymous SNV HNMT:NM_006895:exon4:c.C314T:p.T105I exonic ENSG00000150540 NA nonsynonymous SNV ENSG00000150540:ENST00000280097:exon4:c.C314T:p.T105I,ENSG00000150540:ENST00000410115:exon5:c.C314T:p.T105I Score=487;Name=lod=127 NA 2q22.1 NA NA NA NA rs11558538 0.06 0.06 0.056 0.0595048 0.1044 0.0317 0.0778 0.003 0.1053 0.1 0.03 0.07 0.0041 0.1017 0.1 0.4 T 0.729 P 0.602 P 0.001 N 1.000 D 2.125 M 0.99 T -1.146 T 0.007 T 0.396 4.102 21.1 5.27 1.580 5.284 15.171 4.101588 4.101588 0.01 0.104767 0.023831 NA 0.08 CLINSIG=other;CLNDBN=Asthma\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000005467.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1869116:600807 15.0224664 199 20 34218673 34218673 G C exonic CPNE1 NA nonsynonymous SNV CPNE1:NM_001198863:exon12:c.C1040G:p.P347R,CPNE1:NM_003915:exon12:c.C1055G:p.P352R,CPNE1:NM_152925:exon12:c.C1040G:p.P347R,CPNE1:NM_152926:exon12:c.C1040G:p.P347R,CPNE1:NM_152927:exon13:c.C1040G:p.P347R,CPNE1:NM_152928:exon13:c.C1040G:p.P347R exonic ENSG00000214078 NA nonsynonymous SNV ENSG00000214078:ENST00000430570:exon11:c.C968G:p.P323R,ENSG00000214078:ENST00000317677:exon12:c.C1055G:p.P352R,ENSG00000214078:ENST00000397442:exon12:c.C1040G:p.P347R,ENSG00000214078:ENST00000397443:exon12:c.C1040G:p.P347R,ENSG00000214078:ENST00000401607:exon12:c.C1040G:p.P347R,ENSG00000214078:ENST00000437340:exon12:c.C1040G:p.P347R,ENSG00000214078:ENST00000397445:exon13:c.C1040G:p.P347R,ENSG00000214078:ENST00000397446:exon13:c.C1040G:p.P347R,ENSG00000214078:ENST00000317619:exon14:c.C1040G:p.P347R,ENSG00000214078:ENST00000352393:exon14:c.C1040G:p.P347R Score=547;Name=lod=222 NA 20q11.22 Score=902;Name=V$NFY_C NA NA NA rs12481228 0.09 0.09 0.068 0.103634 0.1004 0.0833 0.1225 0.0749 0.1534 0.1 0.07 0.13 0.06 0.1061 0.13 0.02 D 0.763 P 0.656 P 0.000 U 0.000 P 2.55 M 2.0 T -1.219 T 0.002 T 0.566 4.759 26.7 5.32 2.767 9.577 18.785 4.759408 4.759408 0.01 0.106395 0.087154 NA 0.094 NA 15.0204384 199 1 156351699 156351699 G A exonic RHBG NA nonsynonymous SNV RHBG:NM_020407:exon6:c.G943A:p.G315R,RHBG:NM_001256395:exon7:c.G736A:p.G246R,RHBG:NM_001256396:exon7:c.G853A:p.G285R exonic ENSG00000132677 NA nonsynonymous SNV ENSG00000132677:ENST00000537040:exon3:c.G457A:p.G153R,ENSG00000132677:ENST00000368246:exon6:c.G943A:p.G315R,ENSG00000132677:ENST00000368249:exon6:c.G943A:p.G315R,ENSG00000132677:ENST00000400992:exon6:c.G847A:p.G283R,ENSG00000132677:ENST00000255013:exon7:c.G736A:p.G246R Score=595;Name=lod=348 NA 1q22 NA NA NA NA rs3748569 0.55 0.55 0.555 0.544728 0.4095 0.7014 0.6037 0.5719 0.4438 0.41 0.7 0.57 0.58 0.48 0.7 0.01 D 1.0 D 1.0 D 0.000 D 0.000 P 3.455 M 1.12 T -0.251 T 0.288 T 0.829 4.745 26.5 4.44 2.286 7.438 14.590 4.744673 4.744673 0 0.425291 0.526125 NA 0.616 NA 15.0185424 199 1 28282292 28282292 T C exonic SMPDL3B NA nonsynonymous SNV SMPDL3B:NM_001009568:exon6:c.T788C:p.V263A,SMPDL3B:NM_014474:exon6:c.T788C:p.V263A exonic ENSG00000130768 NA nonsynonymous SNV ENSG00000130768:ENST00000549094:exon5:c.T644C:p.V215A,ENSG00000130768:ENST00000373888:exon6:c.T788C:p.V263A,ENSG00000130768:ENST00000373894:exon6:c.T788C:p.V263A Score=336;Name=lod=31 NA 1p35.3 NA NA NA NA rs3813803 0.22 0.22 0.176 0.186302 0.2684 0.2123 0.255 0.0703 0.183 0.28 0.24 0.25 0.08 0.2507 0.3 0.06 T 0.992 D 0.814 P 0.000 D 0.420 P 2.095 M -3.1 D -1.516 T 0.000 T 0.33 3.409 17.52 5.34 2.009 7.608 15.291 3.409377 3.409377 0.01 0.296395 0.105311 NA 0.13 NA 15.0178384 199 22 50319170 50319170 A G exonic CRELD2 NA nonsynonymous SNV CRELD2:NM_024324:exon9:c.A974G:p.E325G,CRELD2:NM_001135101:exon10:c.A1121G:p.E374G exonic ENSG00000184164 NA nonsynonymous SNV ENSG00000184164:ENST00000403427:exon8:c.A890G:p.E297G,ENSG00000184164:ENST00000407217:exon8:c.A878G:p.E293G,ENSG00000184164:ENST00000328268:exon9:c.A974G:p.E325G,ENSG00000184164:ENST00000404488:exon10:c.A1121G:p.E374G Score=259;Name=lod=15 NA 22q13.33 NA Name=EBF,NFKB,EBF1_(C-8) NA NA rs11545763 0.08 0.08 0.076 0.067492 0.1193 0.0546 0.0735 0.0045 0.1084 0.13 0.06 0.09 0.01 0.093 0.13 0.28 T 0.998 D 0.947 D 0.042 U 0.042 P -1.18 N -3.05 D -0.520 T 0.016 T 0.213 3.084 16.3 4.41 1.667 5.457 12.782 3.083826 3.083826 0.07 0.104419 0.02315 ID=COSM149319;OCCURENCE=1(stomach) 0.174 NA 15.0166144 200 1 111857208 111857208 G A exonic CHIA NA nonsynonymous SNV CHIA:NM_201653:exon5:c.G304A:p.G102R exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000422815:exon2:c.G136A:p.G46R,ENSG00000134216:ENST00000343320:exon4:c.G304A:p.G102R,ENSG00000134216:ENST00000369740:exon5:c.G304A:p.G102R Score=547;Name=lod=222 NA 1p13.2 NA NA NA NA rs3818822 0.11 0.11 0.099 0.129593 0.0984 0.0933 0.0807 0.1936 0.1472 0.08 0.09 0.09 0.17 0.1131 0.17 0 D 1.0 D 0.998 D 0.000 N 0.000 P 3.725 H 3.38 T -0.895 T 0.070 T 0.49 3.918 19.93 4.56 2.233 8.823 15.193 3.918008 3.918008 0 0.107291 0.16284 NA 0.159 NA 15.0145424 200 12 114282496 114282496 C T exonic RBM19 NA nonsynonymous SNV RBM19:NM_001146698:exon23:c.G2762A:p.R921Q,RBM19:NM_001146699:exon23:c.G2762A:p.R921Q,RBM19:NM_016196:exon23:c.G2762A:p.R921Q exonic ENSG00000122965 NA nonsynonymous SNV ENSG00000122965:ENST00000552384:exon2:c.G212A:p.R71Q,ENSG00000122965:ENST00000261741:exon23:c.G2762A:p.R921Q,ENSG00000122965:ENST00000392561:exon23:c.G2762A:p.R921Q,ENSG00000122965:ENST00000545145:exon23:c.G2762A:p.R921Q Score=492;Name=lod=133 NA 12q24.13 NA NA NA NA rs2075387 0.22 0.22 0.196 0.219649 0.3002 0.131 0.2032 0.1815 0.2914 0.31 0.14 0.2 0.2 0.2493 0.31 0.05 D 0.997 D 0.86 P 0.000 D 0.000 P 1.935 M 3.47 T -0.939 T 0.000 T 0.699 4.144 21.4 5.11 2.368 4.408 18.155 4.143675 4.143675 0.02 0.269884 0.176123 NA 0.232 NA 15.0139494 200 5 42719239 42719239 A C exonic GHR NA nonsynonymous SNV GHR:NM_001242460:exon8:c.A1564C:p.I522L,GHR:NM_001242406:exon9:c.A1630C:p.I544L,GHR:NM_000163:exon10:c.A1630C:p.I544L,GHR:NM_001242399:exon10:c.A1651C:p.I551L,GHR:NM_001242402:exon10:c.A1630C:p.I544L,GHR:NM_001242403:exon10:c.A1630C:p.I544L,GHR:NM_001242404:exon10:c.A1630C:p.I544L,GHR:NM_001242405:exon10:c.A1630C:p.I544L,GHR:NM_001242400:exon11:c.A1630C:p.I544L,GHR:NM_001242401:exon11:c.A1630C:p.I544L exonic ENSG00000112964 NA nonsynonymous SNV ENSG00000112964:ENST00000537449:exon8:c.A1069C:p.I357L,ENSG00000112964:ENST00000357703:exon9:c.A1564C:p.I522L,ENSG00000112964:ENST00000230882:exon10:c.A1630C:p.I544L Score=429;Name=lod=74 NA 5p12 Score=727;Name=V$PAX4_04 NA Name=2 NA rs6180 0.44 0.44 0.432 0.444489 0.4185 0.5694 0.4006 0.379 0.4622 0.4 0.58 0.41 0.37 0.4434 0.58 0.08 T 0.933 P 0.897 P 0.074 N 1.000 P 3.585 H 1.3 T -0.908 T 0.000 T 0.286 2.482 14.26 3.43 1.135 1.574 5.415 2.482225 2.482225 0.01 0.460581 0.389015 NA 0.406 CLINSIG=other;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=single;CLNACC=RCV000009190.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:398036000 15.0108524 200 4 162307312 162307312 C A exonic FSTL5 NA nonsynonymous SNV FSTL5:NM_001128428:exon15:c.G2101T:p.D701Y,FSTL5:NM_001128427:exon16:c.G2128T:p.D710Y,FSTL5:NM_020116:exon16:c.G2131T:p.D711Y exonic ENSG00000168843 NA nonsynonymous SNV ENSG00000168843:ENST00000427802:exon15:c.G2101T:p.D701Y,ENSG00000168843:ENST00000536695:exon15:c.G2128T:p.D710Y,ENSG00000168843:ENST00000306100:exon16:c.G2131T:p.D711Y,ENSG00000168843:ENST00000379164:exon16:c.G2128T:p.D710Y Score=446;Name=lod=87 NA 4q32.2 NA NA NA NA rs3749598 0.09 0.09 0.084 0.0910543 0.1203 0.0704 0.121 0.0628 0.0992 0.12 0.06 0.1 0.08 0.1085 0.12 0.01 D 1.0 D 0.976 D 0.000 D 0.000 P 1.995 M 1.6 T -1.046 T 0.003 T 0.818 3.021 16.08 3.98 0.771 4.524 11.527 3.02145 3.02145 0.01 0.09686 0.067181 NA 0.08 NA 15.0076734 200 10 123970722 123970722 T A exonic TACC2 NA nonsynonymous SNV TACC2:NM_006997:exon3:c.T1016A:p.L339H,TACC2:NM_206860:exon3:c.T1016A:p.L339H,TACC2:NM_206861:exon6:c.T1220A:p.L407H,TACC2:NM_206862:exon9:c.T6782A:p.L2261H exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000260733:exon3:c.T1016A:p.L339H,ENSG00000138162:ENST00000360561:exon3:c.T1016A:p.L339H,ENSG00000138162:ENST00000368999:exon3:c.T1016A:p.L339H,ENSG00000138162:ENST00000369004:exon3:c.T1016A:p.L339H,ENSG00000138162:ENST00000514539:exon3:c.T1067A:p.L356H,ENSG00000138162:ENST00000358010:exon5:c.T1220A:p.L407H,ENSG00000138162:ENST00000513429:exon6:c.T1220A:p.L407H,ENSG00000138162:ENST00000453444:exon7:c.T6794A:p.L2265H,ENSG00000138162:ENST00000334433:exon8:c.T6782A:p.L2261H,ENSG00000138162:ENST00000515273:exon8:c.T6794A:p.L2265H,ENSG00000138162:ENST00000515603:exon8:c.T6647A:p.L2216H,ENSG00000138162:ENST00000369005:exon9:c.T6782A:p.L2261H Score=333;Name=lod=30 NA 10q26.13 Score=755;Name=V$NRSF_01 NA NA NA rs2295876 0.08 0.08 0.06 0.0890575 0.0835 0.1151 0.1311 0.0045 0.1524 0.08 0.13 0.11 0.01 0.1197 0.13 0.12 T 1.0 D 0.988 D 0.009 N 0.000 P 1.95 M 4.09 T -1.091 T 0.001 T 0.406 2.024 12.73 5.0 2.016 3.088 9.291 2.024084 2.024084 0.01 0.12407 0.026555 NA 0.138 NA 15.0060634 201 12 110011230 110011230 C T exonic MMAB NA nonsynonymous SNV MMAB:NM_052845:exon1:c.G56A:p.R19H exonic ENSG00000139428 NA nonsynonymous SNV ENSG00000139428:ENST00000420167:exon1:c.G56A:p.R19H,ENSG00000139428:ENST00000503497:exon1:c.G56A:p.R19H,ENSG00000139428:ENST00000537496:exon1:c.G56A:p.R19H,ENSG00000139428:ENST00000540016:exon1:c.G56A:p.R19H,ENSG00000139428:ENST00000541763:exon1:c.G56A:p.R19H,ENSG00000139428:ENST00000544051:exon1:c.G56A:p.R19H,ENSG00000139428:ENST00000545712:exon1:c.G56A:p.R19H Score=300;Name=lod=22 NA 12q24.11 NA Name=ZEB1_(SC-25388),HEY1,c-Myc,CCNT2,TBP,YY1,NANOG_(SC-33759),Pol2-4H8,Sin3Ak-20,ELF1_(SC-631),Oct-2,TAF1,E2F6_(H-50),ETS1,HMGN3,POU2F2,Pol2(phosphoS2),Pol2,E2F6,YY1_(C-20) Name=114 NA rs10774775 0.29 0.29 0.283 0.284944 0.2853 0.1607 0.2939 0.438 0.1994 0.28 0.15 0.31 0.45 0.2902 0.45 . . 0.989 D 0.556 P 0.034 N 0.000 P 0.895 L -1.76 D -1.001 T 0.000 T 0.545 2.368 13.88 3.89 1.351 1.236 11.184 2.368378 2.368378 0.01 0.266938 0.389699 NA NA NA 14.9908954 202 2 136409574 136409574 A C exonic R3HDM1 NA nonsynonymous SNV R3HDM1:NM_015361:exon17:c.A1895C:p.Q632P exonic ENSG00000048991 NA nonsynonymous SNV ENSG00000048991:ENST00000329971:exon14:c.A1508C:p.Q503P,ENSG00000048991:ENST00000409478:exon14:c.A1511C:p.Q504P,ENSG00000048991:ENST00000410054:exon14:c.A1730C:p.Q577P,ENSG00000048991:ENST00000264160:exon17:c.A1895C:p.Q632P,ENSG00000048991:ENST00000409606:exon17:c.A1898C:p.Q633P Score=566;Name=lod=266 NA 2q21.3 NA NA NA NA rs2305165 0.14 0.14 0.117 0.188498 0.1322 0.1756 0.2291 0.0923 0.3609 0.13 0.15 0.19 0.1 0.139 0.19 0.27 T 0.997 D 0.979 D 0.000 D 0.001 P 2.045 M 0.56 T -1.145 T 0.001 T 0.355 4.09 21.1 5.42 2.039 7.954 15.113 4.090264 4.090264 0.04 0.082907 0.112347 NA 0.094 NA 14.9792264 202 8 39840234 39840234 A G exonic IDO2 NA nonsynonymous SNV IDO2:NM_194294:exon5:c.A418G:p.I140V exonic ENSG00000188676 NA nonsynonymous SNV ENSG00000188676:ENST00000389060:exon4:c.A379G:p.I127V,ENSG00000188676:ENST00000502986:exon5:c.A418G:p.I140V Score=407;Name=lod=60 NA 8p11.21 Score=896;Name=V$GATA1_03 NA NA NA rs4736794 0.16 0.16 0.152 0.159744 0.1014 0.3343 0.2118 0.0227 0.1881 0.1 0.36 0.19 0.02 0.1603 0.36 . . 0.999 D 0.996 D 0.000 D 0.016 P 1.14 L 0.99 T -0.965 T 0.000 T 0.177 4.057 20.8 5.29 2.009 6.903 11.640 4.056992 4.056992 NA 0.094937 0.030472 NA 0.159 NA 14.9766964 203 17 76121318 76121318 G A exonic TMC6 NA nonsynonymous SNV TMC6:NM_001127198:exon6:c.C457T:p.L153F,TMC6:NM_007267:exon6:c.C457T:p.L153F exonic ENSG00000141524 NA nonsynonymous SNV ENSG00000141524:ENST00000392467:exon5:c.C457T:p.L153F,ENSG00000141524:ENST00000306591:exon6:c.C457T:p.L153F,ENSG00000141524:ENST00000322914:exon6:c.C457T:p.L153F,ENSG00000141524:ENST00000589271:exon6:c.C457T:p.L153F,ENSG00000141524:ENST00000590602:exon6:c.C457T:p.L153F,ENSG00000141524:ENST00000592063:exon6:c.C457T:p.L153F Score=480;Name=lod=119 NA 17q25.3 NA NA Name=15 NA rs12449858 0.14 0.14 0.128 0.105032 0.0924 0.2063 0.255 0.0083 0.0378 0.09 0.27 0.22 0.01 0.1842 0.27 0.02 D 1.0 D 0.989 D 0.000 U 0.000 P 1.795 L 0.18 T -1.066 T 0.000 T 0.275 4.113 21.2 3.37 1.580 7.533 12.859 4.112597 4.112597 0.03 0.093874 0.025705 NA 0.101 NA 14.9628594 203 2 220417266 220417266 C T exonic OBSL1 NA nonsynonymous SNV OBSL1:NM_015311:exon18:c.G5300A:p.R1767Q exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000373876:exon17:c.G5024A:p.R1675Q,ENSG00000124006:ENST00000404537:exon18:c.G5300A:p.R1767Q Score=464;Name=lod=103 NA 2q35 Score=864;Name=V$ELK1_02 Name=HA-E2F1,CCNT2,HEY1 Name=136 NA rs59332477 0.42 0.42 0.394 0.376597 0.4583 0.3819 0.5202 0.3495 0.2219 0.47 0.4 0.46 0.33 0.4683 0.47 0.43 T 1.0 D 0.997 D . . 0.000 P 1.27 L -0.24 T -0.929 T 0.000 T 0.174 4.252 22.2 4.61 2.390 3.585 14.290 4.252406 4.252406 0.17 0.445586 0.365784 NA 0.37 NA 14.9611474 203 17 45249335 45249335 T G exonic CDC27 NA nonsynonymous SNV CDC27:NM_001114091:exon3:c.A199C:p.T67P,CDC27:NM_001256:exon3:c.A199C:p.T67P exonic ENSG00000004897 NA nonsynonymous SNV ENSG00000004897:ENST00000570818:exon1:c.A79C:p.T27P,ENSG00000004897:ENST00000066544:exon3:c.A199C:p.T67P,ENSG00000004897:ENST00000526866:exon3:c.A199C:p.T67P,ENSG00000004897:ENST00000527547:exon3:c.A199C:p.T67P,ENSG00000004897:ENST00000531206:exon3:c.A199C:p.T67P,ENSG00000004897:ENST00000575483:exon3:c.A199C:p.T67P Score=690;Name=lod=850 NA 17q21.32 Score=836;Name=V$GR_Q6 Name=BRF2,YY1,c-Jun,STAT2,Nrf1,TBP,ZNF274,TAF1,BDP1,TR4 Name=123 NA rs76782714 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3761 NA 0.31 T 0.0 B 0.001 B 0.002 N 1.000 D -0.145 N -0.81 T -0.975 T 0.158 T 0.802 1.914 12.36 4.6 0.985 3.185 7.199 1.91376 1.91376 0.17 NA NA NA NA NA 14.9572334 204 21 34059352 34059352 T C exonic SYNJ1 NA nonsynonymous SNV SYNJ1:NM_001160302:exon8:c.A884G:p.K295R,SYNJ1:NM_001160306:exon8:c.A884G:p.K295R,SYNJ1:NM_003895:exon8:c.A1001G:p.K334R,SYNJ1:NM_203446:exon8:c.A1001G:p.K334R exonic ENSG00000159082 NA nonsynonymous SNV ENSG00000159082:ENST00000322229:exon7:c.A884G:p.K295R,ENSG00000159082:ENST00000357345:exon8:c.A884G:p.K295R,ENSG00000159082:ENST00000382491:exon8:c.A884G:p.K295R,ENSG00000159082:ENST00000382499:exon8:c.A1001G:p.K334R,ENSG00000159082:ENST00000429236:exon8:c.A884G:p.K295R,ENSG00000159082:ENST00000433931:exon8:c.A1001G:p.K334R Score=643;Name=lod=548 NA 21q22.11 Score=873;Name=V$FOXO3_01 NA NA NA rs2254562 0.29 0.29 0.307 0.304113 0.2873 0.3284 0.2882 0.2988 0.3149 0.29 0.34 0.28 0.25 0.2934 0.34 0.03 D 0.992 D 0.843 P 0.000 D 0.000 P 1.5 L 0.29 T -1.097 T 0.000 T 0.339 5.106 32 5.85 2.239 7.888 16.239 5.106299 5.106299 0.04 0.297905 0.297045 NA 0.326 NA 14.9547284 204 4 187542755 187542755 T C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon10:c.A4985G:p.N1662S exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon10:c.A4985G:p.N1662S Score=444;Name=lod=85 NA 4q35.2 NA NA NA NA rs28489116 0.23 0.23 0.213 0.200479 0.1113 0.3849 0.1988 0.2141 0.0849 0.12 0.4 0.21 0.21 0.1517 0.4 0.19 T 0.998 D 0.993 D 0.000 D 0.000 P 2.38 M 0.17 T -1.037 T 0.000 T 0.054 3.063 16.23 5.19 2.304 7.825 15.510 3.063325 3.063325 0.18 0.118012 0.160648 ID=COSM1131155,COSM1131153;OCCURENCE=1(prostate) 0.225 NA 14.9523214 204 16 334543 334543 C G exonic PDIA2 NA nonsynonymous SNV PDIA2:NM_006849:exon2:c.C356G:p.T119R exonic ENSG00000185615 NA nonsynonymous SNV ENSG00000185615:ENST00000219406:exon2:c.C356G:p.T119R,ENSG00000185615:ENST00000404312:exon2:c.C356G:p.T119R Score=409;Name=lod=61 NA 16p13.3 NA NA NA NA rs45614840 0.06 0.06 0.063 0.0479233 0.1421 NA 0.0749 0.0045 0.0399 0.14 NA 0.09 0.01 0.1043 0.14 0 D 1.0 D 0.999 D 0.006 N 0.007 P 3.63 H 3.47 T -1.050 T 0.001 T 0.569 2.342 13.79 3.17 1.873 1.869 11.246 2.341804 2.341804 0 0.134783 0.025475 NA 0.123 NA 14.9521504 205 1 201009182 201009182 A G exonic CACNA1S NA nonsynonymous SNV CACNA1S:NM_000069:exon44:c.T5399C:p.L1800S exonic ENSG00000081248 NA nonsynonymous SNV ENSG00000081248:ENST00000367338:exon43:c.T5342C:p.L1781S,ENSG00000081248:ENST00000362061:exon44:c.T5399C:p.L1800S Score=313;Name=lod=25 NA 1q32.1 NA NA NA NA rs12139527 0.21 0.21 0.198 0.229233 0.1054 0.1091 0.1023 0.6059 0.0613 0.11 0.11 0.1 0.57 0.1549 0.57 0.02 D 0.999 D 0.994 D . . 0.128 P 1.905 M 0.56 T -0.869 T 0.000 T 0.11 3.696 18.77 4.93 1.851 5.618 8.908 3.695757 3.695757 0 0.130698 0.541307 NA 0.246 NA 14.9423354 205 18 59174759 59174759 C A exonic CDH20 NA nonsynonymous SNV CDH20:NM_031891:exon5:c.C983A:p.P328H exonic ENSG00000101542 NA nonsynonymous SNV ENSG00000101542:ENST00000536675:exon5:c.C983A:p.P328H,ENSG00000101542:ENST00000262717:exon6:c.C983A:p.P328H,ENSG00000101542:ENST00000538374:exon6:c.C983A:p.P328H Score=454;Name=lod=93 NA 18q21.33 NA NA NA NA rs1943330 0.08 0.08 0.071 0.0593051 0.1461 0.0317 0.0793 0.0121 0.0481 0.14 0.03 0.09 0.02 0.1036 0.14 0.07 T 0.999 D 0.981 D 0.000 D 0.001 P 2.54 M 0.61 T -1.047 T 0.004 T 0.447 3.264 16.95 4.89 1.411 3.904 16.427 3.263748 3.263748 0.12 0.14186 0.028143 NA 0.109 NA 14.9417734 205 6 33153528 33153528 C T exonic COL11A2 NA nonsynonymous SNV COL11A2:NM_080680:exon6:c.G826A:p.E276K exonic ENSG00000204248 NA nonsynonymous SNV ENSG00000204248:ENST00000341947:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000357486:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000374712:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000395197:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000457788:exon6:c.G826A:p.E276K Score=512;Name=lod=160 NA 6p21.32 Score=788;Name=V$COMP1_01 NA NA NA rs9277934 0.29 0.29 0.306 0.321885 0.2773 0.2421 0.2738 0.3858 0.3978 0.27 0.26 0.22 0.39 0.3037 0.39 0.81 T 0.976 D 0.651 P 0.360 U 0.000 P 0.69 N -2.32 D -0.520 T 0.387 T 0.269 1.362 10.48 3.8 2.121 3.916 11.346 1.361885 1.361885 0.58 0.314323 0.367131 NA 0.254 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039839.1;CLNDSDB=.;CLNDSDBID=. 14.9380104 205 9 138516190 138516190 T C exonic GLT6D1 NA nonsynonymous SNV GLT6D1:NM_182974:exon5:c.A584G:p.H195R exonic ENSG00000204007 NA nonsynonymous SNV ENSG00000204007:ENST00000371763:exon5:c.A584G:p.H195R Score=259;Name=lod=15 NA 9q34.3 Score=757;Name=V$HEN1_02 NA NA NA rs35762223 0.12 0.12 0.117 0.123403 0.1372 0.1538 0.1369 0.1157 0.0787 0.12 0.13 0.15 0.1 0.1309 0.15 0 D 0.999 D 0.986 D 0.021 N 0.647 P 3.115 M 5.08 T -1.097 T 0.000 T 0.27 3.126 16.45 2.34 0.719 5.890 7.320 3.125657 3.125657 0.02 0.129216 0.125 ID=COSM150746;OCCURENCE=1(stomach) 0.094 NA 14.9360174 206 7 126542667 126542667 A T exonic GRM8 NA nonsynonymous SNV GRM8:NM_000845:exon5:c.T1085A:p.F362Y,GRM8:NM_001127323:exon6:c.T1085A:p.F362Y exonic ENSG00000179603 NA nonsynonymous SNV ENSG00000179603:ENST00000341617:exon5:c.T1085A:p.F362Y,ENSG00000179603:ENST00000405249:exon5:c.T1085A:p.F362Y,ENSG00000179603:ENST00000444921:exon5:c.T1085A:p.F362Y,ENSG00000179603:ENST00000339582:exon6:c.T1085A:p.F362Y,ENSG00000179603:ENST00000358373:exon6:c.T1085A:p.F362Y,ENSG00000179603:ENST00000472701:exon6:c.T1085A:p.F362Y Score=676;Name=lod=747 NA 7q31.33 Score=992;Name=V$LYF1_01 NA NA NA rs78124913 0.13 0.13 0.127 0.122604 0.1481 0.2083 0.1369 0.0098 0.1503 0.15 0.21 0.14 0.01 0.1309 0.21 0.38 T 0.75 P 0.473 P 0.000 D 0.000 P 1.1 L -2.33 D -1.097 T 0.001 T 0.366 3.135 16.48 4.88 1.827 9.283 13.682 3.135052 3.135052 0.22 0.124186 0.03064 ID=COSM150386;OCCURENCE=1(stomach) 0.065 NA 14.9301474 207 13 42465713 42465713 C T exonic VWA8 NA nonsynonymous SNV VWA8:NM_001009814:exon5:c.G494A:p.R165H,VWA8:NM_015058:exon5:c.G494A:p.R165H exonic ENSG00000102763 NA nonsynonymous SNV ENSG00000102763:ENST00000281496:exon5:c.G494A:p.R165H,ENSG00000102763:ENST00000379310:exon5:c.G494A:p.R165H Score=544;Name=lod=216 NA 13q14.11 NA NA NA NA rs9562362 0.22 0.22 0.213 0.202077 0.3171 0.1786 0.2954 0.0151 0.2945 0.33 0.2 0.31 0.02 0.2796 0.33 0 D 0.989 D 0.832 P 0.000 D 0.000 P 3.27 M 0.29 T -1.158 T 0.000 T 0.492 5.663 36 5.71 2.861 7.536 20.224 5.662997 5.662997 0 0.318256 0.059464 NA 0.232 NA 14.9183774 207 11 4842866 4842866 A G exonic OR51F2 NA nonsynonymous SNV OR51F2:NM_001004753:exon1:c.A251G:p.D84G exonic ENSG00000176925 NA nonsynonymous SNV ENSG00000176925:ENST00000322110:exon1:c.A251G:p.D84G Score=317;Name=lod=26 NA 11p15.4 NA NA NA NA rs35003053 0.09 0.09 0.072 0.0605032 0.163 NA 0.1023 0.0371 0.0194 0.16 NA 0.14 0.03 0.1039 0.16 0 D 1.0 D 0.991 D 0.001 U 0.000 P 3.54 H -0.27 T -0.812 T 0.005 T 0.291 3.656 18.59 4.43 1.991 5.659 12.924 3.656456 3.656456 0 0.148557 0.060654 NA 0.123 NA 14.9178764 208 20 6759115 6759115 A T exonic BMP2 NA nonsynonymous SNV BMP2:NM_001200:exon3:c.A570T:p.R190S exonic ENSG00000125845 NA nonsynonymous SNV ENSG00000125845:ENST00000378827:exon3:c.A570T:p.R190S Score=534;Name=lod=198 NA 20p12.3 Score=804;Name=V$ER_Q6 NA NA NA rs235768 0.76 0.76 0.773 0.766773 0.6223 0.8284 0.7291 0.9803 0.59 0.63 0.8 0.69 0.98 0.6743 0.98 0.01 D 0.978 D 0.871 P 0.000 D 0.000 P 2.855 M -0.45 T -1.044 T 0.000 T 0.329 2.955 15.85 5.72 2.319 4.861 16.363 2.955336 2.955336 0 0.627674 0.927793 NA 0.674 NA 14.9090594 209 12 55846623 55846623 T C exonic OR6C2 NA nonsynonymous SNV OR6C2:NM_054105:exon1:c.T626C:p.L209P exonic ENSG00000179695 NA nonsynonymous SNV ENSG00000179695:ENST00000322678:exon1:c.T626C:p.L209P NA NA 12q13.2 NA NA NA NA rs11171467 0.1 0.1 0.11 0.091254 0.1571 NA 0.0937 0.1346 0.0573 0.16 NA 0.1 0.14 0.1236 0.16 0 D 0.992 D 0.929 D 0.000 D 1.000 P 3.195 M 0.78 T -0.891 T 0.002 T 0.467 2.39 13.95 5.42 2.275 2.168 11.079 2.389734 2.389734 0 0.164535 0.132093 NA 0.145 NA 14.8880984 210 12 55715048 55715048 C T exonic OR6C1 NA nonsynonymous SNV OR6C1:NM_001005182:exon1:c.C665T:p.T222I exonic ENSG00000205330 NA nonsynonymous SNV ENSG00000205330:ENST00000379668:exon1:c.C665T:p.T222I NA NA 12q13.2 NA NA NA NA rs7132600 0.12 0.12 0.126 0.107428 0.1571 NA 0.0951 0.1982 0.0532 0.16 NA 0.1 0.2 0.1298 0.2 0 D 0.997 D 0.984 D 0.000 D 1.000 P 3.055 M 8.58 T -0.600 T 0.000 T 0.204 1.974 12.56 4.62 2.380 3.185 17.244 1.974087 1.974087 0 0.164302 0.201316 NA 0.159 NA 14.8821314 211 9 286491 286491 G A exonic DOCK8 NA nonsynonymous SNV DOCK8:NM_203447:exon3:c.G187A:p.D63N exonic ENSG00000107099 NA nonsynonymous SNV ENSG00000107099:ENST00000453981:exon3:c.G187A:p.D63N Score=533;Name=lod=196 NA 9p24.3 NA NA Name=2 NA rs3209441 0.07 0.07 0.076 0.0700879 0.165 0.0069 0.0807 0.0091 0.1125 0.16 NA 0.08 0.02 0.1234 0.18 0.07 T 1.0 D 0.992 D . . 0.000 P 2.24 M 1.56 T -1.229 T 0.001 T 0.123 5.384 34 5.47 2.574 9.479 19.343 5.383843 5.383843 0 0.17593 0.031548 NA 0.094 NA 14.8690034 212 3 56628031 56628031 G A exonic CCDC66 NA nonsynonymous SNV CCDC66:NM_001012506:exon10:c.G1277A:p.R426Q,CCDC66:NM_001141947:exon10:c.G1379A:p.R460Q exonic ENSG00000180376 NA nonsynonymous SNV ENSG00000180376:ENST00000422222:exon9:c.G1247A:p.R416Q,ENSG00000180376:ENST00000326595:exon10:c.G1277A:p.R426Q,ENSG00000180376:ENST00000394672:exon10:c.G1379A:p.R460Q,ENSG00000180376:ENST00000436465:exon10:c.G1379A:p.R460Q Score=587;Name=lod=323 NA 3p14.3 NA NA NA NA rs7637449 0.28 0.28 0.27 0.215056 0.5388 0.0486 0.2839 0.0741 0.1953 0.56 0.06 0.33 0.09 0.3961 0.56 0.01 D 1.0 D 0.999 D 0.000 D 0.000 P 2.045 M 0.49 T -0.870 T 0.000 T 0.4 5.038 29.8 5.81 2.739 4.880 17.852 5.038495 5.038495 0.01 0.537326 0.153881 NA 0.319 NA 14.8611074 212 5 176382995 176382995 G A exonic UIMC1 NA nonsynonymous SNV UIMC1:NM_001199298:exon8:c.C1304T:p.P435L,UIMC1:NM_016290:exon8:c.C1304T:p.P435L,UIMC1:NM_001199297:exon9:c.C1304T:p.P435L exonic ENSG00000087206 NA nonsynonymous SNV ENSG00000087206:ENST00000510698:exon6:c.C461T:p.P154L,ENSG00000087206:ENST00000377219:exon8:c.C1304T:p.P435L,ENSG00000087206:ENST00000377227:exon8:c.C1304T:p.P435L,ENSG00000087206:ENST00000506128:exon8:c.C806T:p.P269L,ENSG00000087206:ENST00000511320:exon8:c.C1304T:p.P435L Score=480;Name=lod=119 NA 5q35.2 NA NA Name=42 NA rs3733876 0.13 0.13 0.121 0.102636 0.1571 0.1944 0.0879 0.0189 0.0757 0.17 0.17 0.1 0.03 0.1425 0.17 0.04 D 1.0 D 0.999 D 0.001 N 0.001 P 1.355 L 2.58 T -1.162 T 0.000 T 0.219 2.048 12.8 5.53 2.775 2.389 15.188 2.047947 2.047947 0.01 0.173953 0.043577 NA 0.123 NA 14.8597804 212 19 44377669 44377669 G A exonic ZNF404 NA nonsynonymous SNV ZNF404:NM_001033719:exon2:c.C688T:p.H230Y exonic ENSG00000176222 NA nonsynonymous SNV ENSG00000176222:ENST00000324394:exon2:c.C691T:p.H231Y,ENSG00000176222:ENST00000587539:exon3:c.C697T:p.H233Y Score=435;Name=lod=78 NA 19q13.31 NA NA NA NA rs12977303 0.43 0.43 0.378 0.389976 0.507 0.5536 0.5692 0.0855 0.3855 0.51 0.57 0.5 0.11 0.4746 0.57 0 D 1.0 D 0.999 D . . 0.867 P 3.99 H -2.17 D -1.108 T 0.000 T 0.476 2.071 12.88 2.56 1.444 5.111 12.257 2.070859 2.070859 0.02 0.49342 0.139971 NA 0.37 NA 14.8583134 213 1 145281543 145281543 C T exonic NOTCH2NL NA nonsynonymous SNV NOTCH2NL:NM_203458:exon4:c.C473T:p.T158I exonic ENSG00000213240,ENSG00000255168 NA nonsynonymous SNV ENSG00000213240:ENST00000344859:exon4:c.C473T:p.T158I,ENSG00000213240:ENST00000362074:exon4:c.C473T:p.T158I,ENSG00000255168:ENST00000468030:exon4:c.C473T:p.T158I,ENSG00000213240:ENST00000369340:exon5:c.C473T:p.T158I Score=641;Name=lod=535 NA 1q21.1 Score=997;Name=V$MYOD_Q6 Name=CTCF,p300,c-Myc,FOXA1_(C-20) Name=13 NA rs8002 NA NA 0.288 NA NA NA NA NA NA NA NA NA NA 0.4808 NA 0.06 T 1.0 D 0.996 D . . 0.997 N 1.43 L -3.12 D -0.067 T 0.699 D 0.205 3.321 17.17 1.87 0.473 0.859 8.586 3.320895 3.320895 0.04 NA NA NA NA NA 14.8525334 214 17 45234420 45234420 T G exonic CDC27 NA nonsynonymous SNV CDC27:NM_001114091:exon7:c.A701C:p.Y234S,CDC27:NM_001256:exon7:c.A701C:p.Y234S exonic ENSG00000004897 NA nonsynonymous SNV ENSG00000004897:ENST00000446365:exon6:c.A518C:p.Y173S,ENSG00000004897:ENST00000066544:exon7:c.A701C:p.Y234S,ENSG00000004897:ENST00000526866:exon7:c.A701C:p.Y234S,ENSG00000004897:ENST00000527547:exon7:c.A701C:p.Y234S,ENSG00000004897:ENST00000531206:exon7:c.A701C:p.Y234S Score=731;Name=lod=1246 NA 17q21.32 Score=790;Name=V$GFI1_01 Name=SETDB1,MafK_(ab50322),SUZ12,IRF3,NFKB,TBP,ZNF274,Nrf1,ZZZ3,TAL1_(SC-12984),BRF2,Pol2(b),EBF,HA-E2F1,HDAC2_(SC-6296),GATA-2,YY1,BRF1,STAT1,RXRA,GTF2F1_(RAP-74),CHD2_(N-1250),CTCF,p300,RPC155,ZBTB33,TAF1,CTCFL_(SC-98982),p300_(F-4),TAF7_(SQ-8),TR4,PU.1,Mxi1_(bHLH),BDP1,SMC3_(ab9263) Name=145 NA rs78493795 NA NA 0.33 NA NA NA NA NA NA NA NA NA NA 0.4898 NA 0.4 T 0.003 B 0.006 B 0.000 D 0.000 P 0.55 N 0.9 T -0.853 T 0.139 T 0.936 2.265 13.53 5.44 2.066 7.522 13.444 2.264783 2.264783 0.11 NA NA NA NA NA 14.8435334 214 19 44418680 44418680 G C exonic ZNF45 NA nonsynonymous SNV ZNF45:NM_003425:exon10:c.C908G:p.P303R exonic ENSG00000124459 NA nonsynonymous SNV ENSG00000124459:ENST00000589703:exon4:c.C908G:p.P303R,ENSG00000124459:ENST00000269973:exon10:c.C908G:p.P303R Score=383;Name=lod=48 NA 19q13.31 NA Name=SETDB1 NA NA rs388685 0.47 0.47 0.43 0.414337 0.5119 0.5486 0.5764 0.174 0.3855 0.51 0.57 0.51 0.25 0.4789 0.57 0.01 D 1.0 D 0.999 D 0.003 N 0.000 P 2.375 M 2.29 T -0.893 T 0.000 T 0.195 1.86 12.18 3.39 1.915 2.850 14.050 1.86014 1.86014 0.1 0.500698 0.225601 NA 0.413 NA 14.8418354 215 6 136599393 136599393 G C exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon4:c.C620G:p.S207C,BCLAF1:NM_001077441:exon4:c.C626G:p.S209C,BCLAF1:NM_014739:exon4:c.C626G:p.S209C exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon2:c.C620G:p.S207C,ENSG00000029363:ENST00000353331:exon4:c.C620G:p.S207C,ENSG00000029363:ENST00000527536:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000527613:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000527759:exon4:c.C620G:p.S207C,ENSG00000029363:ENST00000529826:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000530429:exon4:c.C620G:p.S207C,ENSG00000029363:ENST00000530767:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000531224:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000532384:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000534269:exon4:c.C620G:p.S207C Score=810;Name=lod=2601 NA 6q23.3 Score=731;Name=V$PPARG_01 NA NA NA rs6940018 0.53 0.53 0.545 0.498203 0.499 0.5 0.5 0.4985 0.4939 0.52 0.51 0.55 0.55 0.4999 0.55 0.07 T 0.998 D 0.896 P 0.000 D 1.000 D 1.15 L 2.83 T -1.182 T 0.050 T 0.732 3.217 16.78 5.97 2.834 3.271 15.175 3.21667 3.21667 0.01 NA NA NA 0.493 NA 14.8344334 215 1 144866643 144866643 G A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_014644:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_001198832:exon36:c.C5281T:p.R1761C exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon34:c.C5599T:p.R1867C,ENSG00000178104:ENST00000369356:exon34:c.C5599T:p.R1867C,ENSG00000178104:ENST00000313382:exon36:c.C5281T:p.R1761C,ENSG00000178104:ENST00000530740:exon36:c.C5854T:p.R1952C,ENSG00000178104:ENST00000369359:exon37:c.C6007T:p.R2003C Score=597;Name=lod=357 NA 1q21.1 NA NA NA NA rs1620560 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.01 D 1.0 D 0.995 D . . 1.000 D 2.365 M 3.99 T -1.099 T 0.019 T 0.513 2.135 13.1 2.24 0.330 1.088 6.287 2.13496 2.13496 0.03 NA NA NA 0.493 NA 14.8333334 215 1 144916748 144916748 C G exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon9:c.G2096C:p.S699T,PDE4DIP:NM_001002812:exon13:c.G1607C:p.S536T,PDE4DIP:NM_001198834:exon13:c.G1607C:p.S536T,PDE4DIP:NM_014644:exon13:c.G1607C:p.S536T,PDE4DIP:NM_001198832:exon16:c.G1805C:p.S602T exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon9:c.G2096C:p.S699T,ENSG00000178104:ENST00000479408:exon9:c.G968C:p.S323T,ENSG00000178104:ENST00000529945:exon9:c.G2096C:p.S699T,ENSG00000178104:ENST00000369349:exon13:c.G1607C:p.S536T,ENSG00000178104:ENST00000369351:exon13:c.G1607C:p.S536T,ENSG00000178104:ENST00000369354:exon13:c.G1607C:p.S536T,ENSG00000178104:ENST00000369356:exon13:c.G1607C:p.S536T,ENSG00000178104:ENST00000313382:exon16:c.G1805C:p.S602T,ENSG00000178104:ENST00000369359:exon16:c.G2018C:p.S673T,ENSG00000178104:ENST00000530740:exon16:c.G2018C:p.S673T Score=602;Name=lod=374 NA 1q21.1 NA NA NA NA rs1747930 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.06 T 0.998 D 0.991 D . . 1.000 D 2.045 M 4.57 T -0.400 T 0.367 T 0.609 4.583 24.9 5.73 2.886 4.319 17.817 4.583315 4.583315 0.01 NA NA NA 0.5 NA 14.8333334 215 16 341206 341206 C G exonic AXIN1 NA nonsynonymous SNV AXIN1:NM_003502:exon9:c.G2278C:p.E760Q exonic ENSG00000103126 NA nonsynonymous SNV ENSG00000103126:ENST00000262320:exon9:c.G2278C:p.E760Q Score=567;Name=lod=270 NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39 T 0.501 P 0.086 B 0.000 D 1.000 D 1.39 L 0.19 T -0.948 T 0.131 T 0.092 1.519 11.03 3.57 1.836 3.574 14.066 1.519165 1.519165 0.43 NA NA NA NA NA 14.8333334 215 20 17600316 17600316 T C exonic RRBP1 NA nonsynonymous SNV RRBP1:NM_004587:exon19:c.A2338G:p.S780G,RRBP1:NM_001042576:exon20:c.A2338G:p.S780G exonic ENSG00000125844 NA nonsynonymous SNV ENSG00000125844:ENST00000246043:exon17:c.A3637G:p.S1213G,ENSG00000125844:ENST00000455029:exon18:c.A1660G:p.S554G,ENSG00000125844:ENST00000360807:exon19:c.A2338G:p.S780G,ENSG00000125844:ENST00000377813:exon19:c.A3637G:p.S1213G,ENSG00000125844:ENST00000377807:exon20:c.A2338G:p.S780G NA NA 20p12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11 T 0.989 D 0.889 P 0.000 D 0.999 N 2.19 M 2.04 T -0.946 T 0.152 T 0.219 2.496 14.31 4.75 1.048 2.772 10.79 2.495797 2.495797 0.01 NA NA NA NA NA 14.8333334 215 11 119243493 119243493 C T exonic USP2 NA nonsynonymous SNV USP2:NM_004205:exon2:c.G698A:p.R233H exonic ENSG00000036672 NA nonsynonymous SNV ENSG00000036672:ENST00000260187:exon2:c.G698A:p.R233H Score=309;Name=lod=24 NA 11q23.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002701 NA 0.07 T 0.998 D 0.743 P 0.049 N 1.000 D 0.345 N 2.14 T -1.102 T 0.057 T 0.447 2.721 15.06 5.37 2.501 1.679 16.265 2.720804 2.720804 0 NA NA NA NA NA 14.8333064 215 4 110618781 110618781 C T exonic CASP6 NA nonsynonymous SNV CASP6:NM_001226:exon3:c.G227A:p.R76H exonic ENSG00000138794 NA nonsynonymous SNV ENSG00000138794:ENST00000265164:exon3:c.G227A:p.R76H,ENSG00000138794:ENST00000503684:exon3:c.G173A:p.R58H,ENSG00000138794:ENST00000505486:exon3:c.G227A:p.R76H Score=358;Name=lod=38 NA 4q25 NA NA NA NA rs377499378 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003395 0.0001 0.01 D 0.72 P 0.234 B 0.000 D 1.000 D 1.8 L 1.89 T -1.063 T 0.068 T 0.547 2.587 14.61 4.3 1.561 1.325 8.445 2.587369 2.587369 0.06 0.000116 0 NA NA NA 14.8331835 215 14 64610629 64610629 G A exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon83:c.G15446A:p.R5149H,SYNE2:NM_182914:exon83:c.G15446A:p.R5149H exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000555612:exon3:c.G332A:p.R111H,ENSG00000054654:ENST00000394768:exon31:c.G4601A:p.R1534H,ENSG00000054654:ENST00000555002:exon34:c.G5348A:p.R1783H,ENSG00000054654:ENST00000554584:exon81:c.G15197A:p.R5066H,ENSG00000054654:ENST00000344113:exon83:c.G15446A:p.R5149H,ENSG00000054654:ENST00000358025:exon83:c.G15446A:p.R5149H,ENSG00000054654:ENST00000357395:exon84:c.G4601A:p.R1534H Score=561;Name=lod=253 NA 14q23.2 NA NA NA NA rs142206385 0.0009 0.0009 NA 0.000399361 NA 0.001 NA 0.0008 NA NA 0.0017 NA 0.002 0.0002 0.002 0.03 D 0.763 P 0.143 B 0.013 N 1.000 D 2.395 M 1.31 T -0.906 T 0.120 T 0.383 2.792 15.3 4.44 1.240 3.926 7.484 2.791982 2.791982 0 0.000349 0 NA NA NA 14.8327844 215 22 19184095 19184095 T C exonic CLTCL1 NA nonsynonymous SNV CLTCL1:NM_001835:exon25:c.A3946G:p.M1316V,CLTCL1:NM_007098:exon25:c.A3946G:p.M1316V exonic ENSG00000070371 NA nonsynonymous SNV ENSG00000070371:ENST00000263200:exon25:c.A3946G:p.M1316V,ENSG00000070371:ENST00000353891:exon25:c.A3946G:p.M1316V,ENSG00000070371:ENST00000427926:exon26:c.A3946G:p.M1316V Score=614;Name=lod=419 NA 22q11.21 NA Name=eGFP-NR4A1 NA NA rs1061325 0.38 0.38 0.366 0.403554 0.5149 0.3075 0.4568 0.2277 0.5879 0.52 0.29 0.41 0.25 0.4897 0.52 0.14 T 0.975 D 0.994 D 0.000 D 0.000 P 2.295 M 2.55 T -0.901 T 0.000 T 0.634 3.458 17.71 3.5 1.469 7.144 12.152 3.457621 3.457621 0.04 0.497029 0.261745 NA 0.333 NA 14.8317044 215 1 235324212 235324212 G A exonic RBM34 NA nonsynonymous SNV RBM34:NM_001161533:exon2:c.C224T:p.P75L,RBM34:NM_015014:exon2:c.C224T:p.P75L exonic ENSG00000188739 NA nonsynonymous SNV ENSG00000188739:ENST00000366606:exon2:c.C209T:p.P70L,ENSG00000188739:ENST00000408888:exon2:c.C224T:p.P75L,ENSG00000188739:ENST00000429912:exon2:c.C224T:p.P75L,ENSG00000188739:ENST00000447801:exon2:c.C218T:p.P73L NA NA 1q42.3 NA Name=Sin3Ak-20,Pol2,CHD2_(N-1250) Name=115 NA rs184349413 0.0009 0.0009 NA 0.00179712 0.001 NA 0.0086 0.0015 NA NA NA 0.01 NA 0.0004 0.01 0.2 T 0.969 D 0.691 P 0.001 N 0.687 N 2.215 M 2.35 T -1.091 T 0.057 T 0.267 3.959 20.3 3.17 1.287 2.429 8.907 3.959016 3.959016 0.01 0.000364 0.000785 NA NA NA 14.8315694 215 13 39262826 39262826 C G exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon1:c.C1345G:p.L449V exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon1:c.C1345G:p.L449V Score=496;Name=lod=138 NA 13q13.3 NA NA NA NA rs190063725 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0001 0.0013 0.25 T 0.988 D 0.751 P 0.000 D 1.000 D 0.93 L 1.71 T -1.141 T 0.087 T 0.77 2.633 14.77 5.6 2.648 2.597 19.623 2.633404 2.633404 0.13 NA NA NA NA NA 14.8312334 215 10 73544086 73544086 G A exonic CDH23 NA nonsynonymous SNV CDH23:NM_022124:exon40:c.G5411A:p.R1804Q exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000224721:exon41:c.G5426A:p.R1809Q Score=547;Name=lod=223 NA 10q22.1 NA NA NA NA rs3802711 0.15 0.15 0.14 0.138978 0.1839 0.2401 0.1282 0.0575 0.1063 0.19 0.21 0.11 0.07 0.1548 0.21 0.37 T 1.0 D 0.993 D 0.000 D 0.000 P 1.145 L . . -1.158 T 0.000 T 0.417 5.596 35 5.44 2.556 6.676 18.895 5.596016 5.596016 0.09 0.164461 0.07785 NA 0.087 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039213.1|RCV000124200.1;CLNDSDB=.|.;CLNDSDBID=.|. 14.8301724 215 1 223285200 223285200 G A exonic TLR5 NA stopgain TLR5:NM_003268:exon6:c.C1174T:p.R392X exonic ENSG00000187554 NA stopgain ENSG00000187554:ENST00000342210:exon4:c.C1174T:p.R392X,ENSG00000187554:ENST00000540964:exon4:c.C1174T:p.R392X,ENSG00000187554:ENST00000366881:exon6:c.C1174T:p.R392X Score=343;Name=lod=33 NA 1q41 Score=755;Name=V$SEF1_C NA NA NA rs5744168 0.04 0.04 0.036 0.0503195 0.0606 0.0387 0.0303 0.0227 0.1033 0.06 0.03 0.04 0.03 0.0556 0.06 1 T . . . . 0.138 N 1.000 D . . . . . . . . . 7.367 39 4.67 1.330 1.885 10.079 7.367396 7.367396 NA 0.054651 0.024058 NA 0.029 CLINSIG=other|pathogenic|pathogenic;CLNDBN=Legionellosis|Systemic_lupus_erythematosus\x2c_resistance_to\x2c_1|Melioidosis\x2c_resistance_to;CLNREVSTAT=single|single|single;CLNACC=RCV000007037.2|RCV000007038.2|RCV000074501.2;CLNDSDB=MedGen:OMIM|MedGen|MedGen;CLNDSDBID=C1837872:608556|C1864265|CN182252 14.829149 215 8 39862881 39862881 C T exonic IDO2 NA nonsynonymous SNV IDO2:NM_194294:exon9:c.C742T:p.R248W exonic ENSG00000188676 NA nonsynonymous SNV ENSG00000188676:ENST00000389060:exon8:c.C703T:p.R235W,ENSG00000188676:ENST00000502986:exon9:c.C742T:p.R248W Score=598;Name=lod=358 NA 8p11.21 NA NA Name=5 NA rs10109853 0.41 0.41 0.398 0.418131 0.5139 0.2877 0.4582 0.326 0.5501 0.53 0.27 0.46 0.35 0.4843 0.53 . . 1.0 D 1.0 D 0.000 D 0.003 P 3.69 H -0.32 T -0.914 T 0.000 T 0.556 3.901 19.83 6.03 2.861 3.023 15.934 3.900616 3.900616 NA 0.50608 0.357105 NA 0.362 NA 14.8290534 215 7 23383339 23383339 T C exonic IGF2BP3 NA nonsynonymous SNV IGF2BP3:NM_006547:exon9:c.A1075G:p.N359D exonic ENSG00000136231 NA nonsynonymous SNV ENSG00000136231:ENST00000258729:exon9:c.A1075G:p.N359D Score=630;Name=lod=484 NA 7p15.3 NA NA NA NA rs150697725 0.0018 0.0018 NA 0.00139776 0.003 0.001 NA NA 0.0031 0.004 0.0017 NA NA 0.0016 0.004 0.4 T 0.57 P 0.196 B 0.000 D 1.000 D 2.085 M 2.47 T -1.107 T 0.051 T 0.36 3.433 17.61 5.64 2.145 6.155 15.862 3.432779 3.432779 0.2 0.001977 0.000227 NA NA NA 14.8267564 216 7 76903907 76903907 C T exonic CCDC146 NA nonsynonymous SNV CCDC146:NM_020879:exon11:c.C1378T:p.R460C exonic ENSG00000135205 NA nonsynonymous SNV ENSG00000135205:ENST00000431197:exon10:c.C520T:p.R174C,ENSG00000135205:ENST00000285871:exon11:c.C1378T:p.R460C NA NA 7q11.23 Score=824;Name=V$BACH1_01 NA NA NA rs148164233 0.0014 0.0014 0.002 0.00419329 0.003 0.001 NA NA 0.0174 0.004 NA NA NA 0.0037 0.004 0.03 D 0.99 D 0.727 P 0.001 D 0.997 N 1.39 L 1.04 T -0.903 T 0.169 T 0.553 1.23 9.989 5.71 2.698 4.057 19.430 1.230341 NA 0 0.002558 0.000681 NA NA NA 14.8240754 216 6 161491684 161491684 G T exonic MAP3K4 NA nonsynonymous SNV MAP3K4:NM_005922:exon4:c.G1752T:p.Q584H,MAP3K4:NM_006724:exon4:c.G1752T:p.Q584H exonic ENSG00000085511 NA nonsynonymous SNV ENSG00000085511:ENST00000542952:exon2:c.G197T:p.S66I,ENSG00000085511:ENST00000348824:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000366919:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000366920:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000392142:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000544041:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000490904:exon5:c.G1850T:p.S617I NA NA 6q26 NA NA Name=2 NA rs34018542 0.0005 0.0005 NA 0.000798722 0.001 NA 0.0029 0.0008 NA NA NA 0.0028 NA 0.0029 0.0056 0.04 D 0.974 D 0.646 P 0.000 D 0.749 N 1.59 L 2.22 T -1.105 T 0.030 T 0.548 1.105 9.51 4.69 1.363 3.268 9.976 1.105499 NA 0.01 0.005581 0.000908 NA NA NA 14.8238524 216 9 79323853 79323853 C T exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.G3337A:p.D1113N exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.G3337A:p.D1113N,ENSG00000106772:ENST00000428286:exon8:c.G2260A:p.D754N NA NA 9q21.2 NA NA NA NA rs200875180 0.0009 0.0009 NA 0.000998403 0.005 NA NA NA NA 0.0026 NA NA NA 0.0038 0.0038 0 D 1.0 D 0.829 P 0.000 D 1.000 D 0.975 L 0.31 T -0.885 T 0.201 T 0.202 2.621 14.72 5.94 2.826 4.165 14.954 2.620639 2.620639 0 0.003769 0.000319 NA NA NA 14.8207644 216 19 35790493 35790493 C T exonic MAG NA nonsynonymous SNV MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V exonic ENSG00000105695 NA nonsynonymous SNV ENSG00000105695:ENST00000600291:exon4:c.C377T:p.A126V,ENSG00000105695:ENST00000361922:exon5:c.C452T:p.A151V,ENSG00000105695:ENST00000392213:exon5:c.C452T:p.A151V,ENSG00000105695:ENST00000537831:exon5:c.C377T:p.A126V,ENSG00000105695:ENST00000595791:exon5:c.C452T:p.A151V Score=501;Name=lod=145 NA 19q13.12 NA NA NA NA rs144553163 0.0027 0.0027 NA 0.00239617 0.005 NA 0.0014 0.0008 0.0051 0.01 NA NA 0.002 0.0044 0.01 1 T 0.98 D 0.79 P 0.000 D 0.919 D 1.245 L -1.0 T -0.510 T 0.274 T 0.433 3.859 19.6 4.57 2.361 1.742 14.866 3.858571 3.858571 0.03 0.004302 0.002497 NA NA NA 14.8196314 216 12 49498284 49498284 T G exonic LMBR1L NA nonsynonymous SNV LMBR1L:NM_018113:exon5:c.A382C:p.M128L exonic ENSG00000139636 NA nonsynonymous SNV ENSG00000139636:ENST00000550137:exon3:c.A208C:p.M70L,ENSG00000139636:ENST00000395141:exon4:c.A367C:p.M123L,ENSG00000139636:ENST00000267102:exon5:c.A382C:p.M128L,ENSG00000139636:ENST00000547382:exon5:c.A382C:p.M128L,ENSG00000139636:ENST00000551854:exon5:c.A397C:p.M133L Score=622;Name=lod=449 NA 12q13.12 NA NA NA NA rs35343771 0.0018 0.0018 0 0.00159744 0.005 0.001 0.0029 NA NA 0.004 0.0017 NA NA 0.0044 0.0048 1 T 0.91 P 0.909 D 0.000 D 1.000 D 0.8 N 2.07 T -1.118 T 0.068 T 0.789 3.026 16.1 6.07 2.326 8.005 15.611 3.025943 3.025943 0.55 0.004767 0.001589 NA NA NA 14.8191664 216 1 226555302 226555302 A G exonic PARP1 NA nonsynonymous SNV PARP1:NM_001618:exon17:c.T2285C:p.V762A exonic ENSG00000143799 NA nonsynonymous SNV ENSG00000143799:ENST00000366794:exon17:c.T2285C:p.V762A Score=616;Name=lod=424 NA 1q42.12 NA NA NA Score=100;Name=216809_0_+_100 rs1136410 0.24 0.24 0.204 0.196885 0.1541 0.4365 0.3516 0.0371 0.1002 0.17 0.46 0.33 0.05 0.2018 0.46 0.24 T 0.728 P 0.731 P 0.000 D 0.000 P 2.11 M 2.69 T -0.836 T 0.000 T 0.428 4.06 20.9 5.56 2.122 8.957 15.709 4.059621 4.059621 0.02 0.159419 0.052882 NA 0.196 NA 14.8180144 217 20 45878118 45878118 C G exonic ZMYND8 NA nonsynonymous SNV ZMYND8:NM_012408:exon13:c.G1687C:p.V563L,ZMYND8:NM_183047:exon13:c.G1687C:p.V563L,ZMYND8:NM_183048:exon13:c.G1612C:p.V538L exonic ENSG00000101040 NA nonsynonymous SNV ENSG00000101040:ENST00000446994:exon12:c.G1438C:p.V480L,ENSG00000101040:ENST00000540497:exon12:c.G1471C:p.V491L,ENSG00000101040:ENST00000311275:exon13:c.G1627C:p.V543L,ENSG00000101040:ENST00000352431:exon13:c.G1687C:p.V563L,ENSG00000101040:ENST00000360911:exon13:c.G1612C:p.V538L,ENSG00000101040:ENST00000372023:exon13:c.G1612C:p.V538L,ENSG00000101040:ENST00000458360:exon13:c.G1612C:p.V538L,ENSG00000101040:ENST00000461685:exon13:c.G1687C:p.V563L,ENSG00000101040:ENST00000471951:exon13:c.G1687C:p.V563L,ENSG00000101040:ENST00000536340:exon13:c.G1708C:p.V570L,ENSG00000101040:ENST00000262975:exon14:c.G1627C:p.V543L,ENSG00000101040:ENST00000355972:exon14:c.G1627C:p.V543L,ENSG00000101040:ENST00000396281:exon15:c.G1627C:p.V543L NA NA 20q13.12 NA Name=Pol2(b) NA NA rs77137073 0.01 0.01 0.003 0.00379393 0.0149 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0085 0.013 0.14 T 0.881 P 0.338 B 0.001 D 1.000 N 1.355 L -1.73 D -0.158 T 0.515 D 0.536 0.928 8.782 5.7 2.683 3.209 13.083 0.928382 NA 0.01 0.013256 0.003404 ID=COSM221041;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 14.7966774 217 6 35285719 35285719 A C exonic DEF6 NA nonsynonymous SNV DEF6:NM_022047:exon6:c.A859C:p.N287H exonic ENSG00000023892 NA nonsynonymous SNV ENSG00000023892:ENST00000542066:exon5:c.A94C:p.N32H,ENSG00000023892:ENST00000316637:exon6:c.A859C:p.N287H Score=371;Name=lod=43 NA 6p21.31 NA Name=CTCF,c-Myc,HA-E2F1 Name=127 NA rs61734579 0.01 0.01 0.004 0.00479233 0.0189 NA 0.0072 NA NA 0.02 NA 0.01 NA 0.0088 0.02 0.06 T 0.985 D 0.67 P 0.001 D 1.000 N 0.64 N 2.64 T -1.102 T 0.033 T 0.078 4.619 25.3 2.83 0.869 1.349 8.701 4.618935 4.618935 0.05 0.00907 0.001816 NA NA NA 14.7965634 218 3 148880043 148880043 G A exonic HPS3 NA nonsynonymous SNV HPS3:NM_032383:exon12:c.G2215A:p.G739R exonic ENSG00000163755 NA nonsynonymous SNV ENSG00000163755:ENST00000460822:exon2:c.G343A:p.G115R,ENSG00000163755:ENST00000460120:exon11:c.G1720A:p.G574R,ENSG00000163755:ENST00000296051:exon12:c.G2215A:p.G739R Score=407;Name=lod=60 NA 3q24 NA Name=GR NA NA rs78336249 0.01 0.01 0.004 0.00379393 0.0139 NA 0.0072 NA NA 0.01 NA 0.01 NA 0.0096 0.016 0.05 D 0.457 P 0.244 B 0.000 N 1.000 D 1.445 L -0.35 T -0.727 T 0.144 T 0.115 3.701 18.8 5.11 1.542 5.703 15.002 3.701103 3.701103 0.03 0.015698 0.004539 NA NA NA 14.7941354 218 1 186050417 186050417 A G exonic HMCN1 NA nonsynonymous SNV HMCN1:NM_031935:exon56:c.A8678G:p.E2893G exonic ENSG00000143341 NA nonsynonymous SNV ENSG00000143341:ENST00000271588:exon56:c.A8678G:p.E2893G,ENSG00000143341:ENST00000367492:exon56:c.A8678G:p.E2893G Score=385;Name=lod=49 NA 1q31.1 NA NA NA NA rs10798035 0.59 0.59 0.563 0.582668 0.499 0.5694 0.6311 0.6952 0.4959 0.51 0.6 0.63 0.66 0.5453 0.67 0.1 T 0.999 D 0.996 D 0.000 D 0.000 P 2.24 M 1.54 T -0.918 T 0.000 T 0.195 4.808 27.2 5.86 2.241 8.904 14.816 4.808057 4.808057 0.02 0.497558 0.667045 ID=COSM424810;OCCURENCE=1(breast) 0.63 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082286.1;CLNDSDB=.;CLNDSDBID=. 14.7914754 218 12 108012066 108012066 G A exonic BTBD11 NA nonsynonymous SNV BTBD11:NM_001017523:exon8:c.G974A:p.S325N,BTBD11:NM_001018072:exon10:c.G2363A:p.S788N exonic ENSG00000151136 NA nonsynonymous SNV ENSG00000151136:ENST00000357167:exon8:c.G974A:p.S325N,ENSG00000151136:ENST00000280758:exon10:c.G2363A:p.S788N,ENSG00000151136:ENST00000490090:exon10:c.G2363A:p.S788N Score=760;Name=lod=1629 NA 12q23.3 NA NA NA NA rs61753394 0.01 0.01 0.011 0.00658946 0.0209 NA 0.0115 NA 0.0041 0.02 NA 0.03 NA 0.0108 0.03 0.74 T 0.979 D 0.798 P 0.000 D 1.000 D 0.175 N 1.36 T -1.095 T 0.041 T 0.091 3.926 19.97 5.07 2.509 9.813 18.808 3.925728 3.925728 0.58 0.015581 0.001589 NA 0.007 NA 14.7860524 219 6 46593224 46593224 A G exonic CYP39A1 NA nonsynonymous SNV CYP39A1:NM_016593:exon7:c.T862C:p.Y288H exonic ENSG00000146233 NA nonsynonymous SNV ENSG00000146233:ENST00000275016:exon7:c.T862C:p.Y288H NA NA 6p12.3 Score=839;Name=V$OCT1_01 NA NA NA rs17856332 0.01 0.01 0.006 0.00738818 0.0249 NA 0.0115 0.0023 0.001 0.03 NA 0.02 0.0041 0.0124 0.03 0.71 T 0.97 D 0.827 P 0.000 D 1.000 N 0.97 L -1.96 D -0.597 T 0.380 T 0.177 2.167 13.2 5.2 1.970 4.960 11.458 2.166504 2.166504 0.1 0.01907 0.00522 NA NA NA 14.7769634 219 1 17265507 17265507 C T exonic CROCC NA nonsynonymous SNV CROCC:NM_014675:exon12:c.C1478T:p.P493L exonic ENSG00000058453 NA nonsynonymous SNV ENSG00000058453:ENST00000375541:exon12:c.C1478T:p.P493L Score=383;Name=lod=48 NA 1p36.13 NA NA Name=9 NA rs201951425 0.02 0.02 0.016 NA NA NA NA NA NA 0.03 NA 0.02 0.02 0.027 0.03 0.31 T 0.995 D 0.852 P . . 1.000 D 1.735 L 2.78 T -1.193 T 0.021 T 0.169 2.848 15.49 5.39 2.702 5.113 14.606 2.847709 2.847709 0.07 0.02968 0.012881 ID=COSM424609;OCCURENCE=1(breast) 0.014 NA 14.7766534 220 19 15918802 15918802 C G exonic OR10H1 NA nonsynonymous SNV OR10H1:NM_013940:exon1:c.G46C:p.G16R exonic ENSG00000186723 NA nonsynonymous SNV ENSG00000186723:ENST00000334920:exon1:c.G46C:p.G16R Score=278;Name=lod=18 NA 19p13.12 NA NA NA NA rs4808383 0.15 0.15 0.134 0.152955 0.1779 0.12 0.1124 0.1331 0.2168 0.18 0.13 0.1 0.13 0.1874 0.2 0.01 D 1.0 D 0.97 D 0.000 D 0.270 P 3.475 M 5.94 T -1.045 T 0.000 T 0.333 2.106 13 2.28 0.323 1.939 6.958 2.105991 2.105991 0.01 0.197093 0.138901 NA 0.239 NA 14.7709404 220 6 116943975 116943975 G A exonic RSPH4A NA nonsynonymous SNV RSPH4A:NM_001010892:exon2:c.G731A:p.R244H,RSPH4A:NM_001161664:exon2:c.G731A:p.R244H exonic ENSG00000111834 NA nonsynonymous SNV ENSG00000111834:ENST00000229554:exon2:c.G731A:p.R244H,ENSG00000111834:ENST00000368580:exon2:c.G731A:p.R244H,ENSG00000111834:ENST00000368581:exon2:c.G731A:p.R244H Score=652;Name=lod=594 NA 6q22.1 NA NA NA NA rs41289942 0.01 0.01 0.013 0.0119808 0.0249 0.001 0.0216 NA 0.0194 0.03 NA 0.02 NA 0.0196 0.03 0.09 T 0.868 P 0.427 B 0.000 D 1.000 D 3.075 M 2.09 T -1.040 T 0.064 T 0.596 3.293 17.06 4.8 2.661 1.835 13.533 3.292948 3.292948 0 0.023256 0.004312 NA 0.007 NA 14.7655774 221 12 9312951 9312951 G A exonic PZP NA nonsynonymous SNV PZP:NM_002864:exon24:c.C3008T:p.T1003M exonic ENSG00000126838 NA nonsynonymous SNV ENSG00000126838:ENST00000381997:exon19:c.C2366T:p.T789M,ENSG00000126838:ENST00000261336:exon24:c.C3008T:p.T1003M Score=358;Name=lod=38 NA 12p13.31 NA NA NA NA rs57006764 0.26 0.26 0.246 0.270767 0.1909 0.4762 0.2695 0.1619 0.2894 0.17 0.44 0.25 0.21 0.2101 0.44 0 D 1.0 D 0.996 D 0.000 U 0.983 P 3.11 M 1.04 T -0.968 T 0.000 T 0.13 1.514 11.01 3.67 1.044 2.458 8.644 1.5143 1.5143 0 0.169302 0.161144 NA 0.167 NA 14.7630314 221 1 25291010 25291010 A T exonic RUNX3 NA nonsynonymous SNV RUNX3:NM_001031680:exon1:c.T53A:p.I18N exonic ENSG00000020633 NA nonsynonymous SNV ENSG00000020633:ENST00000399916:exon1:c.T53A:p.I18N,ENSG00000020633:ENST00000338888:exon2:c.T53A:p.I18N Score=509;Name=lod=156 NA 1p36.11 NA Name=Pol2,Pol2-4H8 NA NA rs6672420 0.55 0.55 0.527 0.577676 0.5209 0.6885 0.719 0.3873 0.6789 0.49 0.66 0.66 0.4 0.5703 0.66 0.01 D 1.0 D 0.994 D 0.414 N 0.000 P 0.69 N -4.2 D -0.903 T 0.000 T 0.11 1.947 12.47 5.67 2.163 5.452 12.316 1.947479 1.947479 0 0.483953 0.423706 NA 0.384 NA 14.7581804 221 11 6007899 6007899 C T exonic OR52L1 NA nonsynonymous SNV OR52L1:NM_001005173:exon1:c.G262A:p.D88N exonic ENSG00000183313 NA nonsynonymous SNV ENSG00000183313:ENST00000332249:exon1:c.G262A:p.D88N Score=486;Name=lod=126 NA 11p15.4 NA NA NA NA rs4501959 0.19 0.19 0.17 0.167332 0.1879 0.3264 0.2954 0.0121 0.1012 0.19 0.31 0.25 0.02 0.1968 0.31 0.01 D 1.0 D 0.99 D 0.001 N 0.015 P 3.19 M -0.2 T -1.111 T 0.000 T 0.063 3.795 19.27 2.7 1.747 1.845 9.429 3.795375 3.795375 0.01 0.192689 0.043664 NA 0.065 NA 14.7559444 222 11 7949707 7949707 A G exonic OR10A6 NA nonsynonymous SNV OR10A6:NM_001004461:exon1:c.T503C:p.F168S exonic ENSG00000175393 NA nonsynonymous SNV ENSG00000175393:ENST00000309838:exon1:c.T503C:p.F168S Score=346;Name=lod=34 NA 11p15.4 NA NA NA NA rs111488559 0.02 0.02 0.013 0.0183706 0.0258 NA 0.0648 0.0015 0.0194 0.02 NA 0.04 0.0041 0.0343 0.04 0 D 0.981 D 0.832 P 0.000 D 0.932 N 3.505 H 8.58 T -1.038 T 0.001 T 0.316 1.828 12.07 3.24 0.792 1.052 7.024 1.828003 1.828003 0 0.039348 0.009768 NA 0.007 NA 14.7338854 222 17 40714804 40714804 C A exonic COASY NA nonsynonymous SNV COASY:NM_025233:exon1:c.C164A:p.S55Y,COASY:NM_001042529:exon2:c.C164A:p.S55Y,COASY:NM_001042532:exon3:c.C251A:p.S84Y exonic ENSG00000068120 NA nonsynonymous SNV ENSG00000068120:ENST00000393818:exon1:c.C164A:p.S55Y,ENSG00000068120:ENST00000420359:exon2:c.C164A:p.S55Y,ENSG00000068120:ENST00000421097:exon2:c.C164A:p.S55Y,ENSG00000068120:ENST00000585811:exon2:c.C164A:p.S55Y,ENSG00000068120:ENST00000585909:exon2:c.C251A:p.S84Y,ENSG00000068120:ENST00000586771:exon2:c.C164A:p.S55Y,ENSG00000068120:ENST00000587214:exon2:c.C164A:p.S55Y,ENSG00000068120:ENST00000587858:exon3:c.C251A:p.S84Y,ENSG00000068120:ENST00000590958:exon3:c.C251A:p.S84Y Score=483;Name=lod=122 NA 17q21.2 NA Name=Pol2,CEBPB Name=41 NA rs615942 0.47 0.47 0.435 0.506989 0.5239 0.4524 0.487 0.4289 0.6656 0.53 0.45 0.44 0.45 0.539 0.58 0.01 D 0.944 P 0.66 P 0.001 D 0.000 P 0.695 N 1.45 T -0.903 T 0.000 T 0.309 3.845 19.53 5.69 2.693 5.153 17.298 3.845183 3.845183 0.04 0.542927 0.43094 ID=COSM1383389;OCCURENCE=1(large_intestine) 0.601 NA 14.7275064 223 1 94512565 94512565 C T exonic ABCA4 NA nonsynonymous SNV ABCA4:NM_000350:exon19:c.G2828A:p.R943Q exonic ENSG00000198691 NA nonsynonymous SNV ENSG00000198691:ENST00000535735:exon18:c.G2606A:p.R869Q,ENSG00000198691:ENST00000370225:exon19:c.G2828A:p.R943Q Score=366;Name=lod=41 NA 1p22.1 Score=882;Name=V$AP4_01 NA NA NA rs1801581 0.01 0.01 0.014 0.0153754 0.0368 NA 0.0086 0.0023 0.0317 0.04 NA 0.01 0.002 0.0307 0.041 0.16 T 0.519 P 0.163 B 0.003 N 1.000 N 0.855 L -2.81 D -0.481 T 0.429 T 0.366 1.513 11.01 3.54 1.294 1.065 7.555 1.512669 1.512669 0.35 0.041047 0.014299 NA 0.072 CLINSIG=other|pathogenic|non-pathogenic;CLNDBN=MACULAR_DEGENERATION\x2c_AGE-RELATED\x2c_2\x2c_SUSCEPTIBILITY_TO|Stargardt_disease_1|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000008374.1|RCV000008375.1|RCV000085512.2;CLNDSDB=.|MedGen:OMIM:Orphanet|.;CLNDSDBID=.|C1855465:248200:ORPHA827|. 14.7247864 223 19 39915758 39915758 C G exonic PLEKHG2 NA nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A exonic ENSG00000090924 NA nonsynonymous SNV ENSG00000090924:ENST00000425673:exon17:c.C3898G:p.P1300A,ENSG00000090924:ENST00000409794:exon19:c.C3985G:p.P1329A Score=409;Name=lod=61 NA 19q13.2 NA Name=Pol2 NA NA rs31728 0.56 0.56 0.555 0.592252 0.5338 0.6002 0.5058 0.677 0.591 0.53 0.55 0.51 0.65 0.5527 0.68 . . 0.999 D 0.991 D 0.001 D 0.000 P 2.015 M -1.23 T -0.846 T 0.000 T 0.252 2.899 15.66 3.03 2.481 1.115 9.195 2.898814 2.898814 0.02 0.5298 0.6787 NA 0.478 NA 14.7170334 224 1 19600406 19600406 C T ncRNA_exonic AKR7L NA NA NA exonic ENSG00000211454 NA unknown UNKNOWN Score=482;Name=lod=121 NA 1p36.13 NA NA NA NA rs149246656 0.01 0.01 0.007 0.0195687 0.0348 NA 0.0317 0.0008 0.0409 0.02 NA 0.04 NA 0.0431 0.041 0.02 D 1.0 D 1.0 D 0.000 D 1.000 D . . . . -0.441 T 0.152 T 0.535 3.906 19.86 3.15 1.772 4.619 13.301 3.906027 3.906027 NA 0.040541 0.006522 NA NA NA 14.7148923 225 22 37581422 37581422 G C exonic C1QTNF6 NA nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.C125G:p.P42R,C1QTNF6:NM_182486:exon2:c.C125G:p.P42R exonic ENSG00000133466 NA nonsynonymous SNV ENSG00000133466:ENST00000337843:exon2:c.C125G:p.P42R,ENSG00000133466:ENST00000397110:exon2:c.C125G:p.P42R,ENSG00000133466:ENST00000434784:exon2:c.C125G:p.P42R Score=358;Name=lod=38 Name=Hypothyroidism 22q12.3 NA NA NA NA rs229526 0.18 0.18 0.173 0.189097 0.2068 0.1071 0.1369 0.2769 0.1738 0.19 0.1 0.16 0.28 0.1999 0.28 0.13 T 0.919 P 0.483 P 0.001 D 0.000 P 2.24 M 1.08 T -1.056 T 0.000 T 0.298 1.557 11.16 4.49 2.039 3.883 15.369 1.557493 1.557493 0.11 0.22314 0.26532 NA 0.196 NA 14.7034934 225 4 93511396 93511396 C T exonic GRID2 NA nonsynonymous SNV GRID2:NM_001510:exon2:c.C203T:p.T68M exonic ENSG00000152208 NA nonsynonymous SNV ENSG00000152208:ENST00000282020:exon2:c.C203T:p.T68M,ENSG00000152208:ENST00000510992:exon2:c.C203T:p.T68M Score=534;Name=lod=197 NA 4q22.1 NA NA NA NA rs34144324 0.03 0.03 0.027 0.0227636 0.0447 0.002 0.0533 0.0121 0.0143 0.05 0.0017 0.06 0.01 0.0351 0.06 0 D 0.963 D 0.595 P 0.000 D 0.528 N 0 N 2.38 T -0.717 T 0.075 T 0.222 3.828 19.44 5.96 2.826 5.085 15.948 3.828449 3.828449 0.02 0.050581 0.020881 ID=COSM1130995;OCCURENCE=1(prostate) 0.029 NA 14.7029524 225 9 104385711 104385711 C T exonic GRIN3A NA nonsynonymous SNV GRIN3A:NM_133445:exon5:c.G2503A:p.D835N exonic ENSG00000198785 NA nonsynonymous SNV ENSG00000198785:ENST00000361820:exon5:c.G2503A:p.D835N Score=660;Name=lod=640 NA 9q31.1 Score=926;Name=V$HSF2_01 NA NA NA rs10989563 0.11 0.11 0.126 0.131589 0.2386 0.0466 0.1671 0.0703 0.1667 0.19 0.04 0.17 0.05 0.2034 0.19 0.34 T 0.999 D 0.977 D 0.000 D 0.000 P 1.79 L 1.69 T -1.211 T 0.000 T 0.051 4.921 28.4 5.72 2.716 7.818 19.894 4.92116 4.92116 0.23 0.191744 0.089877 NA NA NA 14.6995894 225 7 89938680 89938680 C T exonic C7orf63 NA nonsynonymous SNV C7orf63:NM_001039706:exon22:c.C2654T:p.T885M,C7orf63:NM_001160138:exon22:c.C2600T:p.T867M exonic ENSG00000105792 NA nonsynonymous SNV ENSG00000105792:ENST00000449577:exon10:c.C1265T:p.T422M,ENSG00000105792:ENST00000316089:exon21:c.C2516T:p.T839M,ENSG00000105792:ENST00000389297:exon22:c.C2654T:p.T885M,ENSG00000105792:ENST00000497910:exon22:c.C2600T:p.T867M Score=474;Name=lod=113 NA 7q21.13 NA NA NA NA rs1134956 0.38 0.38 0.365 0.380591 0.5577 0.2024 0.3991 0.2859 0.4969 0.57 0.18 0.41 0.29 0.5071 0.57 0.01 D 1.0 D 1.0 D 0.000 D 0.000 P 2.395 M 1.55 T -0.886 T 0.000 T 0.522 4.164 21.5 5.51 2.601 4.335 19.421 4.163953 4.163953 0.01 0.571902 0.346494 NA 0.449 NA 14.6966314 226 17 39643340 39643340 T G exonic KRT36 NA nonsynonymous SNV KRT36:NM_003771:exon6:c.A1070C:p.N357T exonic ENSG00000126337 NA nonsynonymous SNV ENSG00000126337:ENST00000328119:exon6:c.A1070C:p.N357T,ENSG00000126337:ENST00000393986:exon7:c.A920C:p.N307T NA NA 17q21.2 Score=765;Name=V$HTF_01 Name=TCF12,CTCF,Rad21 Name=29 NA rs11657323 0.15 0.15 0.15 0.142173 0.2316 0.004 0.1239 0.1755 0.1605 0.24 0.0017 0.14 0.19 0.1923 0.24 0.02 D 0.286 B 0.395 B 0.000 D 1.000 P 2.015 M -2.43 D -0.986 T 0.001 T 0.078 2.491 14.29 3.84 0.520 -0.770 5.603 2.491425 2.491425 0.02 0.216395 0.169542 NA 0.196 NA 14.6930384 226 4 75248505 75248505 G T exonic EREG NA nonsynonymous SNV EREG:NM_001432:exon4:c.G422T:p.C141F exonic ENSG00000124882 NA nonsynonymous SNV ENSG00000124882:ENST00000244869:exon4:c.G422T:p.C141F Score=441;Name=lod=83 NA 4q13.3 Score=874;Name=V$TAL1ALPHAE47_01 NA NA NA rs78803121 0.02 0.02 0.024 0.0181709 0.0527 NA 0.0202 0.0008 0.0235 0.05 NA 0.03 0.002 0.0369 0.055 0.46 T 0.85 P 0.424 B 0.005 N 0.895 D 2.165 M 2.61 T -1.050 T 0.007 T 0.277 2 12.64 3.84 1.436 0.953 7.992 1.99957 1.99957 0.16 0.054884 0.013845 NA 0.007 NA 14.6888494 226 4 48037926 48037926 A G exonic NIPAL1 NA nonsynonymous SNV NIPAL1:NM_207330:exon6:c.A970G:p.I324V exonic ENSG00000163293 NA nonsynonymous SNV ENSG00000163293:ENST00000295461:exon6:c.A970G:p.I324V Score=514;Name=lod=163 NA 4p12 Score=766;Name=V$YY1_02 NA NA NA rs13116684 0.21 0.21 0.196 0.204073 0.2187 0.1637 0.1916 0.2262 0.2096 0.21 0.19 0.2 0.24 0.2097 0.28 . . 0.994 D 0.974 D 0.000 N 0.014 P 2.255 M -3.11 D -1.183 T 0.001 T 0.066 2.24 13.45 2.24 0.168 6.085 12.221 2.240068 2.240068 0.06 0.217093 0.203813 NA 0.239 NA 14.6878404 226 22 30888494 30888494 C T exonic SEC14L4 NA nonsynonymous SNV SEC14L4:NM_001161368:exon8:c.G631A:p.E211K,SEC14L4:NM_174977:exon8:c.G631A:p.E211K exonic ENSG00000133488 NA nonsynonymous SNV ENSG00000133488:ENST00000255858:exon8:c.G631A:p.E211K,ENSG00000133488:ENST00000381982:exon8:c.G631A:p.E211K,ENSG00000133488:ENST00000392772:exon8:c.G469A:p.E157K,ENSG00000133488:ENST00000540456:exon9:c.G586A:p.E196K Score=569;Name=lod=275 NA 22q12.2 NA NA NA NA rs17738527 0.15 0.15 0.132 0.14397 0.2296 0.0397 0.281 0.0923 0.136 0.22 0.04 0.23 0.11 0.1928 0.23 0.06 T 0.992 D 0.917 D 0.000 D 0.000 P 2.445 M 1.6 T -1.202 T 0.000 T 0.513 5.495 35 5.09 2.527 5.662 17.602 5.495305 5.495305 0 0.225116 0.113482 NA 0.058 NA 14.6858174 227 3 132226100 132226100 A G exonic DNAJC13 NA nonsynonymous SNV DNAJC13:NM_015268:exon43:c.A5018G:p.Y1673C exonic ENSG00000138246 NA nonsynonymous SNV ENSG00000138246:ENST00000260818:exon43:c.A5018G:p.Y1673C Score=663;Name=lod=662 NA 3q22.1 NA NA NA NA rs79953286 0.03 0.03 0.033 0.0241613 0.0586 NA 0.0461 0.0023 0.0276 0.07 NA 0.04 0.01 0.0447 0.07 0.06 T 0.992 D 0.62 P 0.000 D 1.000 D 1.15 L 2.21 T -1.201 T 0.005 T 0.327 2.156 13.17 5.75 2.181 5.344 16.050 2.15641 2.15641 0.16 0.060349 0.013618 NA 0.036 NA 14.6696844 227 2 108875198 108875198 G A exonic SULT1C3 NA nonsynonymous SNV SULT1C3:NM_001008743:exon5:c.G535A:p.G179R exonic ENSG00000196228 NA nonsynonymous SNV ENSG00000196228:ENST00000329106:exon5:c.G535A:p.G179R,ENSG00000196228:ENST00000376700:exon5:c.G535A:p.G179R Score=460;Name=lod=99 NA 2q12.3 NA NA NA NA rs2219078 0.39 0.39 0.384 0.34984 0.1918 0.6766 0.3876 0.3064 0.2076 0.21 0.73 0.37 0.3 0.2803 0.73 0 D 1.0 D 1.0 D 0.002 N 0.000 P 4.02 H -2.23 D -0.903 T 0.000 T 0.393 2.156 13.17 2.21 0.617 5.240 9.208 2.156047 2.156047 0 0.193023 0.293917 NA 0.275 NA 14.6682104 228 14 81251255 81251255 T C exonic CEP128 NA nonsynonymous SNV CEP128:NM_152446:exon14:c.A2195G:p.H732R exonic ENSG00000100629 NA nonsynonymous SNV ENSG00000100629:ENST00000281129:exon14:c.A2195G:p.H732R,ENSG00000100629:ENST00000555265:exon15:c.A2195G:p.H732R Score=358;Name=lod=38 NA 14q31.1 NA Name=CTCF Name=59 NA rs327463 0.29 0.29 0.289 0.332268 0.3827 0.1806 0.3602 0.2383 0.544 0.38 0.19 0.35 0.23 0.3854 0.4 0.49 T 0.996 D 0.89 P 0.001 D 0.000 P 1.5 L 1.55 T -0.913 T 0.000 T 0.286 1.638 11.43 4.88 2.326 2.088 12.780 1.637792 1.637792 0.36 0.40407 0.268271 ID=COSM147825;OCCURENCE=1(stomach) 0.377 NA 14.6611634 229 1 113098534 113098534 C T exonic ST7L NA nonsynonymous SNV ST7L:NM_017744:exon12:c.G1352A:p.R451Q,ST7L:NM_138727:exon12:c.G1301A:p.R434Q,ST7L:NM_138728:exon12:c.G1352A:p.R451Q,ST7L:NM_138729:exon12:c.G1352A:p.R451Q exonic ENSG00000007341 NA nonsynonymous SNV ENSG00000007341:ENST00000544629:exon10:c.G1157A:p.R386Q,ENSG00000007341:ENST00000369669:exon11:c.G803A:p.R268Q,ENSG00000007341:ENST00000343210:exon12:c.G1352A:p.R451Q,ENSG00000007341:ENST00000358039:exon12:c.G1352A:p.R451Q,ENSG00000007341:ENST00000360743:exon12:c.G1352A:p.R451Q,ENSG00000007341:ENST00000361846:exon12:c.G1352A:p.R451Q,ENSG00000007341:ENST00000369666:exon12:c.G1301A:p.R434Q,ENSG00000007341:ENST00000369668:exon12:c.G1352A:p.R451Q,ENSG00000007341:ENST00000490067:exon12:c.G1301A:p.R434Q,ENSG00000007341:ENST00000538187:exon12:c.G1184A:p.R395Q,ENSG00000007341:ENST00000490715:exon13:c.G1352A:p.R451Q Score=718;Name=lod=1107 NA 1p13.2 NA NA NA Score=73;Name=123186_0_-_73 rs6658555 0.16 0.16 0.152 0.1248 0.2406 0.0893 0.1196 0.093 0.089 0.26 0.07 0.15 0.11 0.1931 0.26 0.14 T 1.0 D 0.998 D 0.000 D 0.000 P 1.765 L 2.05 T -1.128 T 0.093 T 0.791 5.171 32 5.59 2.625 6.086 19.188 5.171196 5.171196 0.13 0.248721 0.118021 ID=COSM146584;OCCURENCE=1(stomach) 0.101 NA 14.6509124 229 6 42977092 42977092 T C exonic PPP2R5D NA synonymous SNV PPP2R5D:NM_180977:exon10:c.T966C:p.N322N,PPP2R5D:NM_001270476:exon12:c.T831C:p.N277N,PPP2R5D:NM_006245:exon12:c.T1284C:p.N428N,PPP2R5D:NM_180976:exon12:c.T1188C:p.N396N exonic ENSG00000112640 NA synonymous SNV ENSG00000112640:ENST00000461010:exon10:c.T966C:p.N322N,ENSG00000112640:ENST00000394110:exon12:c.T1188C:p.N396N,ENSG00000112640:ENST00000472118:exon12:c.T1260C:p.N420N,ENSG00000112640:ENST00000485511:exon12:c.T1284C:p.N428N Score=606;Name=lod=386 NA 6p21.1 Score=909;Name=V$SOX9_B1 Name=CTCF,Rad21,CTCF_(C-20),SMC3_(ab9263),CTCF_(SC-5916),ZNF263,CTCFL_(SC-98982) Name=87 NA rs114970216 0.0023 0.0023 0 0.00119808 0.005 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0048 0.011 . . . . . . . . 1.000 D . . . . . . . . . 0.714 7.805 -6.84 -1.363 -1.143 18.214 0.714379 NA NA 0.007209 0.002724 NA 0.014 NA 14.6496576 230 21 42852497 42852497 C T exonic TMPRSS2 NA nonsynonymous SNV TMPRSS2:NM_001135099:exon6:c.G589A:p.V197M,TMPRSS2:NM_005656:exon6:c.G478A:p.V160M exonic ENSG00000184012 NA nonsynonymous SNV ENSG00000184012:ENST00000424093:exon5:c.G358A:p.V120M,ENSG00000184012:ENST00000332149:exon6:c.G478A:p.V160M,ENSG00000184012:ENST00000398585:exon6:c.G589A:p.V197M,ENSG00000184012:ENST00000458356:exon6:c.G478A:p.V160M,ENSG00000184012:ENST00000454499:exon7:c.G478A:p.V160M Score=466;Name=lod=104 NA 21q22.3 NA NA NA NA rs12329760 0.29 0.29 0.302 0.261382 0.2356 0.3621 0.1542 0.2867 0.226 0.25 0.4 0.19 0.29 0.2502 0.4 0.02 D 0.999 D 0.938 D 0.022 N 0.077 P 2.755 M -0.75 T -1.061 T 0.000 T 0.274 3.616 18.4 4.23 2.392 1.578 9.916 3.615593 3.615593 0.03 0.216279 0.290286 ID=COSM149228;OCCURENCE=1(stomach) 0.21 NA 14.6312544 230 7 34874038 34874038 C G exonic NPSR1 NA nonsynonymous SNV NPSR1:NM_207172:exon6:c.C723G:p.S241R,NPSR1:NM_207173:exon6:c.C723G:p.S241R exonic ENSG00000187258 NA nonsynonymous SNV ENSG00000187258:ENST00000381542:exon4:c.C525G:p.S175R,ENSG00000187258:ENST00000359791:exon6:c.C723G:p.S241R,ENSG00000187258:ENST00000360581:exon6:c.C723G:p.S241R,ENSG00000187258:ENST00000381539:exon6:c.C723G:p.S241R,ENSG00000187258:ENST00000531252:exon6:c.C690G:p.S230R Score=497;Name=lod=139 NA 7p14.3 Score=863;Name=V$IRF1_01 NA NA NA rs727162 0.28 0.28 0.265 0.317692 0.2177 0.3512 0.3516 0.2708 0.4254 0.22 0.33 0.32 0.3 0.2777 0.33 0.15 T 0.999 D 0.974 D 0.000 D 0.000 P 1.755 L 1.22 T -0.996 T 0.000 T 0.381 2.111 13.02 4.75 2.456 1.415 10.144 2.111304 2.111304 0.07 0.210698 0.26759 NA 0.254 NA 14.6272354 231 15 43256191 43256191 T C exonic UBR1 NA nonsynonymous SNV UBR1:NM_174916:exon42:c.A4642G:p.T1548A exonic ENSG00000159459 NA nonsynonymous SNV ENSG00000159459:ENST00000290650:exon42:c.A4642G:p.T1548A Score=516;Name=lod=166 NA 15q15.2 Score=799;Name=V$FREAC3_01 NA NA NA rs3917223 0.03 0.03 0.04 0.033147 0.0736 0.001 0.0259 0.0023 0.0716 0.08 0.0017 0.03 NA 0.0638 0.08 0.3 T 0.702 P 0.217 B 0.000 D 1.000 D 0.995 L 0.8 T -1.153 T 0.006 T 0.084 2.472 14.23 4.65 1.969 3.860 12.458 2.472063 2.472063 0.21 0.073505 0.016568 NA 0.036 NA 14.6224284 231 11 116633862 116633862 G A exonic BUD13 NA nonsynonymous SNV BUD13:NM_001159736:exon4:c.C443T:p.P148L,BUD13:NM_032725:exon4:c.C443T:p.P148L exonic ENSG00000137656 NA nonsynonymous SNV ENSG00000137656:ENST00000260210:exon4:c.C443T:p.P148L,ENSG00000137656:ENST00000375445:exon4:c.C443T:p.P148L Score=265;Name=lod=16 Name=Metabolic syndrome (bivariate traits) 11q23.3 NA NA NA NA rs11820589 0.08 0.08 0.066 0.0888578 0.0696 NA 0.134 0.1808 0.044 0.06 NA 0.1 0.18 0.0787 0.18 0 D 0.733 P 0.229 B 0.002 N 0.000 P 2.31 M 2.15 T -1.061 T 0.000 T 0.046 1.347 10.42 4.08 2.597 4.403 12.959 1.346601 1.346601 0.01 0.068219 0.164698 NA 0.072 NA 14.6168144 231 11 43940602 43940602 C G exonic ALKBH3 NA nonsynonymous SNV ALKBH3:NM_139178:exon9:c.C684G:p.D228E exonic ENSG00000166199 NA nonsynonymous SNV ENSG00000166199:ENST00000302708:exon9:c.C684G:p.D228E Score=477;Name=lod=116 NA 11p11.2 NA NA NA NA rs1130290 0.16 0.16 0.15 0.138978 0.2575 0.0933 0.1398 0.0802 0.1431 0.26 0.08 0.15 0.1 0.1985 0.26 0.01 D 0.898 P 0.779 P 0.000 D 0.000 P 2.085 M 2.58 T -1.210 T 0.000 T 0.221 4.659 25.6 5.91 2.793 2.591 15.799 4.658695 4.658695 0 0.261047 0.097821 ID=COSM1127789;OCCURENCE=1(prostate) 0.145 NA 14.6162864 231 1 27239920 27239920 C G exonic NR0B2 NA nonsynonymous SNV NR0B2:NM_021969:exon1:c.G512C:p.G171A exonic ENSG00000131910 NA nonsynonymous SNV ENSG00000131910:ENST00000254227:exon1:c.G512C:p.G171A Score=580;Name=lod=304 NA 1p36.11 NA NA NA NA rs6659176 0.05 0.05 0.042 0.0465256 0.0746 0.006 0.049 0.0552 0.046 0.07 0.01 0.06 0.05 0.0615 0.081 0.61 T 0.991 D 0.894 P 0.000 D 1.000 D 0.965 L -3.43 D -0.331 T 0.189 T 0.24 4.021 20.6 3.43 0.588 3.826 11.346 4.020611 4.020611 0.02 0.081279 0.061734 NA 0.043 NA 14.6159544 232 22 30762140 30762140 G A exonic CCDC157 NA nonsynonymous SNV CCDC157:NM_001017437:exon3:c.G151A:p.D51N exonic ENSG00000187860 NA nonsynonymous SNV ENSG00000187860:ENST00000445005:exon2:c.G151A:p.D51N,ENSG00000187860:ENST00000338306:exon3:c.G151A:p.D51N,ENSG00000187860:ENST00000399824:exon3:c.G151A:p.D51N,ENSG00000187860:ENST00000405659:exon3:c.G151A:p.D51N,ENSG00000187860:ENST00000430839:exon3:c.G151A:p.D51N Score=540;Name=lod=208 NA 22q12.2 Score=909;Name=V$RORA1_01 NA NA NA rs740223 0.17 0.17 0.184 0.159145 0.2694 0.1468 0.1571 0.1415 0.0838 0.24 0.12 0.16 0.14 0.1961 0.26 0.15 T 1.0 D 1.0 D . . 0.000 P 1.905 M 1.46 T -1.212 T 0.000 T 0.301 5.589 35 5.25 2.613 9.060 17.382 5.588928 5.588928 0.04 0.256279 0.151384 NA 0.275 NA 14.6115544 232 11 59189912 59189912 G A exonic OR5A2 NA nonsynonymous SNV OR5A2:NM_001001954:exon1:c.C515T:p.P172L exonic ENSG00000172324 NA nonsynonymous SNV ENSG00000172324:ENST00000302040:exon1:c.C515T:p.P172L Score=346;Name=lod=34 NA 11q12.1 NA NA NA NA rs1453547 0.16 0.16 0.153 0.125998 0.2515 0.1121 0.1311 0.0242 0.1452 0.26 0.12 0.16 0.04 0.209 0.26 0.01 D 0.997 D 0.993 D 0.004 U 0.259 P 2.45 M 8.76 T -0.551 T 0.000 T 0.201 3.866 19.64 4.55 1.428 3.157 13.889 3.86568 3.86568 0.02 0.262864 0.058155 NA 0.109 NA 14.6099694 232 11 59224608 59224608 A G exonic OR4D6 NA nonsynonymous SNV OR4D6:NM_001004708:exon1:c.A175G:p.M59V exonic ENSG00000166884 NA nonsynonymous SNV ENSG00000166884:ENST00000300127:exon1:c.A175G:p.M59V Score=410;Name=lod=62 NA 11q12.1 NA NA NA NA rs1453544 0.16 0.16 0.16 0.1252 0.2525 0.1141 0.1326 0.0197 0.1431 0.27 0.12 0.16 0.04 0.2092 0.27 0 D 0.939 P 0.76 P 0.000 D 0.403 P 3.205 M 2.99 T -1.061 T 0.000 T 0.242 2.193 13.29 4.88 1.088 7.516 11.149 2.19261 2.19261 0 0.263562 0.055429 ID=COSM1178424;OCCURENCE=1(prostate) 0.094 NA 14.6080714 233 1 55273580 55273580 G T exonic C1orf177 NA nonsynonymous SNV C1orf177:NM_001110533:exon4:c.G376T:p.G126C,C1orf177:NM_152607:exon4:c.G376T:p.G126C exonic ENSG00000162398 NA nonsynonymous SNV ENSG00000162398:ENST00000358193:exon4:c.G376T:p.G126C,ENSG00000162398:ENST00000371273:exon4:c.G376T:p.G126C Score=403;Name=lod=58 NA 1p32.3 NA NA NA NA rs9782980 0.48 0.48 0.497 0.498003 0.5905 0.2708 0.4568 0.5023 0.6605 0.59 0.28 0.48 0.52 0.5604 0.6 0 D 1.0 D 0.999 D 0.000 D 0.000 P 2.135 M 1.76 T -0.903 T 0.000 T 0.395 2.589 14.62 4.45 2.531 3.474 9.007 2.589442 2.589442 0 0.598256 0.509532 NA 0.565 NA 14.5841774 234 1 205814485 205814485 G A exonic PM20D1 NA nonsynonymous SNV PM20D1:NM_152491:exon3:c.C457T:p.R153W exonic ENSG00000162877 NA nonsynonymous SNV ENSG00000162877:ENST00000367136:exon3:c.C457T:p.R153W Score=514;Name=lod=164 NA 1q32.1 NA NA NA NA rs1104899 0.23 0.23 0.221 0.2498 0.2515 0.255 0.2536 0.1868 0.3252 0.25 0.23 0.21 0.21 0.2634 0.25 0.01 D 0.996 D 0.962 D 0.000 D 0.000 P 3.38 M 0.06 T -1.022 T 0.000 T 0.367 2.027 12.74 3.96 0.793 2.648 5.217 2.027395 2.027395 0.02 0.249419 0.203132 NA 0.188 NA 14.5690144 234 6 29523952 29523952 A G exonic UBD NA nonsynonymous SNV UBD:NM_006398:exon2:c.T203C:p.I68T exonic ENSG00000213886 NA nonsynonymous SNV ENSG00000213886:ENST00000377050:exon2:c.T203C:p.I68T Score=251;Name=lod=14 NA 6p22.1 NA NA NA NA rs2076485 0.17 0.17 0.154 0.18151 0.2495 0.1756 0.2089 0.0295 0.3037 0.26 0.17 0.19 0.03 0.2536 0.26 0 D 1.0 D 0.99 D 0.727 N 0.003 P 3.14 M -1.39 T -0.189 T 0.597 D 0.168 3.017 16.06 3.0 0.352 1.033 7.034 3.016838 3.016838 0.02 0.262643 0.067836 ID=COSM1442903;OCCURENCE=1(large_intestine) 0.123 NA 14.5675904 235 17 649547 649547 G C exonic GEMIN4 NA nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C1736G:p.A579G exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000576778:exon1:c.C1703G:p.A568G,ENSG00000179409:ENST00000319004:exon2:c.C1736G:p.A579G Score=409;Name=lod=61 NA 17p13.3 NA NA NA NA rs910925 0.69 0.69 0.71 0.710064 0.5885 0.7232 0.6412 0.8858 0.6329 0.59 0.71 0.61 0.88 0.6244 0.88 0.03 D 1.0 D 0.997 D 0.000 D 0.000 P 2.095 M 2.35 T -1.080 T 0.000 T 0.581 4.442 23.7 5.84 2.779 9.633 19.135 4.442024 4.442024 0.1 0.56253 0.832337 NA 0.565 NA 14.5579034 236 15 74560776 74560776 G T exonic CCDC33 NA nonsynonymous SNV CCDC33:NM_025055:exon5:c.G523T:p.G175C exonic ENSG00000140481 NA nonsynonymous SNV ENSG00000140481:ENST00000398814:exon5:c.G523T:p.G175C,ENSG00000140481:ENST00000321288:exon7:c.G1132T:p.G378C NA NA 15q24.1 Score=731;Name=V$LUN1_01 NA NA NA rs56107695 0.07 0.07 0.075 0.0820687 0.0845 0.0774 0.1297 0.0113 0.1462 0.08 0.07 0.14 0.02 0.0969 0.14 0.01 D 0.967 D 0.876 P 0.016 N 1.000 P 2.075 M 2.1 T -1.079 T 0.001 T 0.428 1.208 9.905 3.78 0.978 2.465 9.166 1.207964 NA 0.01 0.099398 0.021156 NA 0.036 NA 14.5525354 237 18 33848581 33848581 T C exonic MOCOS NA nonsynonymous SNV MOCOS:NM_017947:exon15:c.T2600C:p.V867A exonic ENSG00000075643 NA nonsynonymous SNV ENSG00000075643:ENST00000261326:exon15:c.T2600C:p.V867A Score=466;Name=lod=104 NA 18q12.2 Score=845;Name=V$ELK1_01 NA NA NA rs1057251 0.08 0.08 0.053 0.072484 0.0775 0.0704 0.1758 0.0378 0.0429 0.07 0.07 0.17 0.03 0.0977 0.17 0.03 D 0.835 P 0.144 B 0.052 N 0.961 P 2.175 M 2.41 T -1.035 T 0.000 T 0.228 2.756 15.18 5.74 2.323 4.257 12.760 2.755988 2.755988 0 0.116279 0.04562 NA 0.051 NA 14.5418544 237 19 18304700 18304700 A G exonic MPV17L2 NA nonsynonymous SNV MPV17L2:NM_032683:exon2:c.A214G:p.M72V exonic ENSG00000254858 NA nonsynonymous SNV ENSG00000254858:ENST00000534474:exon2:c.A214G:p.M72V,ENSG00000254858:ENST00000599612:exon2:c.A214G:p.M72V Score=552;Name=lod=234 Name=Multiple sclerosis 19p13.11 NA NA Name=22 NA rs874628 0.19 0.19 0.194 0.17472 0.2813 0.0655 0.1974 0.1967 0.1319 0.28 0.07 0.22 0.19 0.2345 0.28 1 T 0.799 P 0.587 P 0.000 D 0.062 P 0.82 L 0.97 T -0.903 T 0.000 T 0.244 2.239 13.44 4.45 1.758 2.477 9.802 2.238933 2.238933 0.02 0.275755 0.190313 NA 0.225 NA 14.5417784 238 11 5364450 5364450 A G exonic OR51B5 NA nonsynonymous SNV OR51B5:NM_001005567:exon5:c.T305C:p.I102T exonic ENSG00000242180 NA nonsynonymous SNV ENSG00000242180:ENST00000300773:exon1:c.T305C:p.I102T Score=259;Name=lod=15 NA 11p15.4 NA NA NA NA rs11036912 0.33 0.33 0.298 0.325679 0.4404 0.1796 0.4035 0.2595 0.3926 0.44 0.16 0.42 0.27 0.4139 0.45 0 D 0.991 D 0.881 P 0.000 D 0.000 P 2.78 M 3.99 T -0.910 T 0.000 T 0.256 3.514 17.95 4.76 2.017 2.296 13.295 3.513868 3.513868 0 0.447172 0.279191 NA 0.362 NA 14.5318614 239 11 77301341 77301341 G A exonic AQP11 NA nonsynonymous SNV AQP11:NM_173039:exon1:c.G304A:p.G102S exonic ENSG00000178301 NA nonsynonymous SNV ENSG00000178301:ENST00000313578:exon1:c.G304A:p.G102S Score=482;Name=lod=121 NA 11q14.1 Score=822;Name=V$PAX3_01 NA Name=60 NA rs2276415 0.14 0.14 0.131 0.145966 0.0964 0.1825 0.1902 0.1377 0.1391 0.09 0.2 0.16 0.15 0.1357 0.21 0.32 T 0.952 P 0.334 B 0.000 N 0.000 P 1.955 M -1.92 D -1.077 T 0.001 T 0.103 3.402 17.49 3.68 0.715 2.719 9.864 3.402396 3.402396 0.02 0.093313 0.135 NA 0.159 NA 14.5079204 239 3 164793758 164793758 C A exonic SI NA nonsynonymous SNV SI:NM_001041:exon2:c.G43T:p.V15F exonic ENSG00000090402 NA nonsynonymous SNV ENSG00000090402:ENST00000264382:exon2:c.G43T:p.V15F,ENSG00000090402:ENST00000476593:exon2:c.G43T:p.V15F Score=361;Name=lod=39 NA 3q26.1 NA NA NA NA rs9290264 0.21 0.21 0.203 0.199481 0.2753 0.1111 0.1787 0.2118 0.2106 0.28 0.11 0.22 0.23 0.2551 0.3 0.07 T 0.955 P 0.649 P 0.001 D 0.012 P 2.19 M -2.84 D -1.400 T 0.000 T 0.636 2.742 15.13 5.68 2.702 2.195 15.296 2.742371 2.742371 0.01 0.296857 0.214934 NA 0.159 NA 14.5060764 240 1 145075683 145075683 C T exonic PDE4DIP NA stopgain PDE4DIP:NM_022359:exon1:c.G180A:p.W60X exonic ENSG00000178104 NA stopgain ENSG00000178104:ENST00000369345:exon1:c.G180A:p.W60X,ENSG00000178104:ENST00000369348:exon1:c.G180A:p.W60X,ENSG00000178104:ENST00000369359:exon1:c.G180A:p.W60X,ENSG00000178104:ENST00000526359:exon1:c.G180A:p.W60X,ENSG00000178104:ENST00000528661:exon1:c.G180A:p.W60X,ENSG00000178104:ENST00000530740:exon1:c.G180A:p.W60X Score=329;Name=lod=29 NA 1q21.1 NA Name=TBP,ZNF274,SUZ12,CCNT2,CtBP2,Pol2,TAF1 Name=117 NA rs2762779 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.51 0.49 0.4999 0.51 1 T . . . . . . 1.000 A . . . . . . . . . 4.419 23.5 3.72 2.068 2.191 11.187 4.418607 4.418607 0 NA NA ID=COSM423677;OCCURENCE=1(breast) 0.442 NA 14.5001 240 1 144852390 144852390 C T exonic PDE4DIP NA stopgain PDE4DIP:NM_001198834:exon44:c.G7053A:p.W2351X exonic ENSG00000178104 NA stopgain ENSG00000178104:ENST00000369356:exon44:c.G7053A:p.W2351X Score=289;Name=lod=20 NA 1q21.1 Score=948;Name=V$P53_02 Name=CTCF NA NA rs2455986 NA NA 0.449 NA NA NA NA NA NA NA NA NA NA 0.5 0.21 1 T . . . . . . 1.000 D . . . . . . . . . 15.108 49 3.48 2.216 2.282 10.259 15.107742 15.107742 NA NA NA NA 0.181 NA 14.5 240 11 48347014 48347014 G A exonic OR4C3 NA stopgain OR4C3:NM_001004702:exon1:c.G522A:p.W174X exonic ENSG00000176547 NA stopgain ENSG00000176547:ENST00000319856:exon1:c.G522A:p.W174X Score=313;Name=lod=25 NA 11p11.2 Score=817;Name=V$RREB1_01 NA NA NA rs72473368 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 1 T . . . . 0.000 D 1.000 D . . . . . . . . . 4.667 25.7 5.78 2.782 1.461 17.680 4.667316 4.667316 0 NA NA NA 0.486 NA 14.5 241 1 237841390 237841390 A G exonic RYR2 NA nonsynonymous SNV RYR2:NM_001035:exon61:c.A8873G:p.Q2958R exonic ENSG00000198626 NA nonsynonymous SNV ENSG00000198626:ENST00000542537:exon60:c.A8825G:p.Q2942R,ENSG00000198626:ENST00000366574:exon61:c.A8873G:p.Q2958R,ENSG00000198626:ENST00000360064:exon62:c.A8867G:p.Q2956R Score=609;Name=lod=398 NA 1q43 NA Name=p300_(N-15),CTCF,Rad21,CTCF_(SC-5916),SMC3_(ab9263) Name=81 NA rs34967813 0.14 0.14 0.123 0.0992412 0.2942 NA 0.1988 0.0113 0.0491 0.3 NA 0.21 0.02 0.2533 0.3 0.42 T 0.287 B 0.032 B 0.000 D 0.000 P 1.16 L -0.29 T -1.093 T 0.000 T 0.538 3.368 17.35 5.67 2.164 7.168 10.287 3.367905 3.367905 0.38 0.304163 0.052618 NA 0.13 CLINSIG=probable-non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Cardiomyopathy|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000030429.1|RCV000036801.2|RCV000127843.1;CLNDSDB=MedGen:SNOMED_CT|.|.;CLNDSDBID=C0878544:85898001|.|. 14.4816704 241 19 15990431 15990431 C T exonic CYP4F2 NA nonsynonymous SNV CYP4F2:NM_001082:exon11:c.G1297A:p.V433M exonic ENSG00000186115 NA nonsynonymous SNV ENSG00000186115:ENST00000221700:exon11:c.G1297A:p.V433M,ENSG00000186115:ENST00000592328:exon11:c.G1297A:p.V433M Score=503;Name=lod=147 Name=Vitamin E levels,Acenocoumarol maintenance dosage,Warfarin maintenance dose,Response to Vitamin E supplementation,Metabolite levels 19p13.12 NA Name=ZNF263 NA NA rs2108622 0.22 0.22 0.207 0.236821 0.2903 0.2143 0.2378 0.0825 0.4131 0.27 0.21 0.28 0.09 0.2726 0.29 0.01 D 1.0 D 0.98 D 0.000 U 0.000 P 3.08 M -0.51 T -1.120 T 0.000 T 0.18 2.408 14.01 1.72 0.476 1.995 7.54 2.407803 2.407803 0.01 0.291163 0.09714 NA 0.152 NA 14.4792704 241 22 39134207 39134207 C T exonic SUN2 NA nonsynonymous SNV SUN2:NM_001199579:exon17:c.G2074A:p.G692S,SUN2:NM_015374:exon17:c.G2011A:p.G671S,SUN2:NM_001199580:exon18:c.G2011A:p.G671S exonic ENSG00000100242 NA nonsynonymous SNV ENSG00000100242:ENST00000455125:exon4:c.G430A:p.G144S,ENSG00000100242:ENST00000216064:exon17:c.G2011A:p.G671S,ENSG00000100242:ENST00000405018:exon17:c.G2074A:p.G692S,ENSG00000100242:ENST00000411587:exon17:c.G1978A:p.G660S,ENSG00000100242:ENST00000405510:exon18:c.G2011A:p.G671S,ENSG00000100242:ENST00000406622:exon18:c.G2011A:p.G671S Score=437;Name=lod=80 NA 22q13.1 NA Name=ZNF263,Pol2-4H8 NA NA rs2072797 0.11 0.11 0.098 0.0950479 0.1312 0.1677 0.0519 0.0068 0.1329 0.14 0.19 0.07 0.01 0.1093 0.19 0.1 T 0.969 D 0.86 P 0.002 N 0.000 P 2.335 M 0.93 T -1.196 T 0.001 T 0.481 4.574 24.8 4.89 2.284 5.529 17.754 4.573738 4.573738 0 0.113605 0.021335 ID=COSM149297;OCCURENCE=1(stomach) 0.087 NA 14.4792284 241 6 152772264 152772264 A G exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon26:c.T3125C:p.V1042A,SYNE1:NM_182961:exon26:c.T3104C:p.V1035A exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000367253:exon24:c.T3104C:p.V1035A,ENSG00000131018:ENST00000413186:exon24:c.T3104C:p.V1035A,ENSG00000131018:ENST00000367248:exon25:c.T3074C:p.V1025A,ENSG00000131018:ENST00000265368:exon26:c.T3104C:p.V1035A,ENSG00000131018:ENST00000367255:exon26:c.T3104C:p.V1035A,ENSG00000131018:ENST00000423061:exon26:c.T3125C:p.V1042A,ENSG00000131018:ENST00000448038:exon27:c.T3125C:p.V1042A,ENSG00000131018:ENST00000341594:exon29:c.T3302C:p.V1101A Score=391;Name=lod=52 NA 6q25.2 NA NA NA NA rs214976 0.59 0.59 0.621 0.607228 0.4473 0.749 0.3732 0.8086 0.5194 0.44 0.74 0.4 0.77 0.4811 0.77 0.06 T 0.481 P 0.164 B 0.325 N 0.000 P 1.955 M 0.63 T 0.108 D 0.536 D 0.276 3.746 19.02 5.84 2.367 8.644 16.560 3.745785 3.745785 0.01 0.429535 0.733545 NA 0.587 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118478.2;CLNDSDB=.;CLNDSDBID=. 14.4753984 242 11 34969112 34969112 A G exonic PDHX NA nonsynonymous SNV PDHX:NM_001135024:exon3:c.A256G:p.T86A,PDHX:NM_001166158:exon3:c.A301G:p.T101A,PDHX:NM_003477:exon3:c.A301G:p.T101A exonic ENSG00000110435 NA nonsynonymous SNV ENSG00000110435:ENST00000533262:exon2:c.A220G:p.T74A,ENSG00000110435:ENST00000227868:exon3:c.A301G:p.T101A,ENSG00000110435:ENST00000430469:exon3:c.A301G:p.T101A,ENSG00000110435:ENST00000448838:exon3:c.A256G:p.T86A,ENSG00000110435:ENST00000533550:exon3:c.A121G:p.T41A Score=500;Name=lod=143 NA 11p13 Score=830;Name=V$FREAC4_01 NA NA NA rs11539202 0.15 0.15 0.162 0.108826 0.3191 NA 0.1527 0.0257 0.0859 0.33 NA 0.16 0.03 0.2197 0.33 0.33 T 0.999 D 0.996 D 0.000 D 0.000 P -0.135 N 2.0 T -0.914 T 0.000 T 0.696 3.228 16.82 4.93 1.091 8.129 11.872 3.228063 3.228063 0.12 0.321545 0.086512 NA 0.094 NA 14.4729884 242 9 92003679 92003679 C T exonic SEMA4D NA nonsynonymous SNV SEMA4D:NM_001142287:exon13:c.G979A:p.A327T,SEMA4D:NM_006378:exon13:c.G979A:p.A327T exonic ENSG00000187764 NA nonsynonymous SNV ENSG00000187764:ENST00000339861:exon11:c.G979A:p.A327T,ENSG00000187764:ENST00000422704:exon11:c.G979A:p.A327T,ENSG00000187764:ENST00000450295:exon11:c.G979A:p.A327T,ENSG00000187764:ENST00000356444:exon12:c.G979A:p.A327T,ENSG00000187764:ENST00000420987:exon12:c.G979A:p.A327T,ENSG00000187764:ENST00000429836:exon12:c.G979A:p.A327T,ENSG00000187764:ENST00000455551:exon12:c.G979A:p.A327T,ENSG00000187764:ENST00000343780:exon13:c.G979A:p.A327T,ENSG00000187764:ENST00000438547:exon13:c.G979A:p.A327T,ENSG00000187764:ENST00000537934:exon13:c.G979A:p.A327T Score=450;Name=lod=90 NA 9q22.2 NA NA NA NA rs11526468 0.26 0.26 0.233 0.22524 0.3072 0.3294 0.2723 0.0174 0.2812 0.31 0.38 0.3 0.03 0.2715 0.38 0.15 T 1.0 D 0.98 D 0.000 D 0.000 P 3.595 H 2.52 T -0.985 T 0.000 T 0.554 4.679 25.8 4.03 1.250 5.521 14.473 4.67851 4.67851 0.11 0.28907 0.063096 NA 0.246 NA 14.4655634 243 8 1514009 1514009 C A exonic DLGAP2 NA nonsynonymous SNV DLGAP2:NM_001277161:exon3:c.C1151A:p.P384Q,DLGAP2:NM_004745:exon3:c.C1151A:p.P384Q exonic ENSG00000198010 NA nonsynonymous SNV ENSG00000198010:ENST00000421627:exon3:c.C1151A:p.P384Q Score=278;Name=lod=18 NA 8p23.3 Score=828;Name=V$AP4_01 NA NA NA rs2301963 0.44 0.44 0.384 0.460663 0.4503 0.4484 0.5749 0.3434 0.5613 0.43 0.45 0.55 0.35 0.4943 0.55 0.03 D 0.976 D 0.636 P 0.003 N 0.561 P 2.2 M 1.98 T -0.891 T 0.000 T 0.184 2.695 14.97 4.55 2.238 3.412 17.716 2.69538 2.69538 0.1 0.447405 0.373023 NA 0.486 NA 14.4413284 244 22 42912097 42912097 C T exonic RRP7A NA nonsynonymous SNV RRP7A:NM_015703:exon3:c.G262A:p.V88I exonic ENSG00000189306 NA nonsynonymous SNV ENSG00000189306:ENST00000323013:exon3:c.G262A:p.V88I Score=295;Name=lod=21 NA 22q13.2 NA Name=TCF4 Name=6 NA rs11553441 0.09 0.09 0.064 0.0760783 0.1461 0.003 0.1772 0.0567 0.0337 0.14 0.0017 0.2 0.05 0.1271 0.2 0.12 T 0.941 P 0.373 B 0.000 D 0.000 P 2 M 2.21 T -1.004 T 0.000 T 0.133 1.212 9.919 2.9 0.946 3.845 12.115 1.211667 NA 0 0.137442 0.077621 NA 0.167 NA 14.4226914 245 1 248224216 248224216 C T exonic OR2L3 NA nonsynonymous SNV OR2L3:NM_001004687:exon1:c.C233T:p.P78L exonic ENSG00000198128 NA nonsynonymous SNV ENSG00000198128:ENST00000359959:exon1:c.C233T:p.P78L Score=278;Name=lod=18 NA 1q44 NA NA NA NA rs6658227 0.21 0.21 0.195 0.187899 0.1441 0.254 0.098 0.298 0.0798 0.14 0.3 0.1 0.3 0.1479 0.3 0 D 0.969 D 0.883 P 0.007 U 0.000 P 3.465 M 4.6 T -0.993 T 0.000 T 0.299 2.544 14.47 2.05 1.124 2.852 11.965 2.544357 2.544357 0 0.138023 0.273718 NA 0.152 NA 14.4033104 245 1 9305445 9305445 A C exonic H6PD NA nonsynonymous SNV H6PD:NM_004285:exon2:c.A452C:p.D151A exonic ENSG00000049239 NA nonsynonymous SNV ENSG00000049239:ENST00000377403:exon2:c.A452C:p.D151A,ENSG00000049239:ENST00000602477:exon2:c.A485C:p.D162A Score=401;Name=lod=57 NA 1p36.22 Score=755;Name=V$STAT1_01 NA NA NA rs34603401 0.08 0.08 0.047 0.0760783 0.163 0.001 0.1023 0.0053 0.1411 0.16 0.0017 0.12 0.01 0.1203 0.16 0.19 T 0.698 P 0.338 B 0.000 D 0.000 P 1.535 L -4.72 D -0.833 T 0.023 T 0.166 2.353 13.83 4.17 2.134 5.824 11.008 2.353386 2.353386 NA 0.151977 0.027236 NA 0.101 NA 14.3980564 245 12 124427306 124427306 T A exonic CCDC92 NA nonsynonymous SNV CCDC92:NM_025140:exon4:c.A208T:p.S70C exonic ENSG00000119242 NA nonsynonymous SNV ENSG00000119242:ENST00000545135:exon2:c.A157T:p.S53C,ENSG00000119242:ENST00000545891:exon3:c.A157T:p.S53C,ENSG00000119242:ENST00000238156:exon4:c.A208T:p.S70C,ENSG00000119242:ENST00000535556:exon4:c.A157T:p.S53C,ENSG00000119242:ENST00000539551:exon5:c.A208T:p.S70C,ENSG00000119242:ENST00000539761:exon6:c.A208T:p.S70C Score=361;Name=lod=39 NA 12q24.31 NA NA NA NA rs11057401 0.26 0.26 0.253 0.250399 0.3489 0.0794 0.3184 0.3109 0.1953 0.34 0.09 0.31 0.31 0.2797 0.34 0.01 D 1.0 D 0.971 D 0.001 D 0.000 P 2.44 M 0.86 T -1.056 T 0.000 T 0.269 4.43 23.5 3.44 0.469 3.019 9.493 4.429598 4.429598 0.01 0.309419 0.32433 ID=COSM1359878;OCCURENCE=1(large_intestine) 0.29 NA 14.3953144 246 11 4608542 4608542 C T exonic OR52I2 NA nonsynonymous SNV OR52I2:NM_001005170:exon1:c.C500T:p.T167M exonic ENSG00000226288 NA nonsynonymous SNV ENSG00000226288:ENST00000312614:exon1:c.C500T:p.T167M Score=259;Name=lod=15 NA 11p15.4 NA NA NA NA rs1847632 0.39 0.39 0.331 0.411542 0.326 0.5585 0.4121 0.2852 0.5184 0.35 0.58 0.39 0.24 0.3486 0.58 0 D 1.0 D 0.961 D 0.000 D 0.984 P 3.705 H 0.89 T -0.906 T 0.000 T 0.287 0.926 8.772 3.26 0.984 0.878 6.997 0.926203 NA 0 0.281061 0.274875 NA 0.239 NA 14.3776724 247 12 121691096 121691096 G A exonic CAMKK2 NA nonsynonymous SNV CAMKK2:NM_001270486:exon9:c.C1087T:p.R363C,CAMKK2:NM_001270485:exon10:c.C1087T:p.R363C,CAMKK2:NM_006549:exon10:c.C1087T:p.R363C,CAMKK2:NM_153499:exon10:c.C1087T:p.R363C,CAMKK2:NM_153500:exon10:c.C1087T:p.R363C,CAMKK2:NM_172214:exon10:c.C1087T:p.R363C,CAMKK2:NM_172215:exon10:c.C1087T:p.R363C,CAMKK2:NM_172216:exon10:c.C1087T:p.R363C,CAMKK2:NM_172226:exon10:c.C1087T:p.R363C exonic ENSG00000110931 NA nonsynonymous SNV ENSG00000110931:ENST00000545538:exon4:c.C448T:p.R150C,ENSG00000110931:ENST00000392474:exon9:c.C1087T:p.R363C,ENSG00000110931:ENST00000324774:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000337174:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000347034:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000392473:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000402834:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000404169:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000412367:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000446440:exon10:c.C1087T:p.R363C,ENSG00000110931:ENST00000538733:exon10:c.C1087T:p.R363C Score=500;Name=lod=144 NA 12q24.31 NA NA NA NA rs1132780 0.23 0.23 0.205 0.241214 0.1491 0.2778 0.2839 0.2799 0.2157 0.15 0.26 0.26 0.29 0.1825 0.29 0.01 D 0.981 D 0.729 P 0.000 D 0.000 P 1.045 L -0.25 T -1.067 T 0.000 T 0.348 2.17 13.21 4.47 1.279 2.049 9.037 2.169524 2.169524 0.01 0.129535 0.280073 NA 0.225 NA 14.3721984 248 4 106859549 106859549 G C exonic NPNT NA nonsynonymous SNV NPNT:NM_001033047:exon5:c.G477C:p.Q159H,NPNT:NM_001184692:exon5:c.G477C:p.Q159H,NPNT:NM_001184690:exon6:c.G528C:p.Q176H,NPNT:NM_001184691:exon6:c.G567C:p.Q189H,NPNT:NM_001184693:exon6:c.G567C:p.Q189H exonic ENSG00000168743 NA nonsynonymous SNV ENSG00000168743:ENST00000305572:exon5:c.G477C:p.Q159H,ENSG00000168743:ENST00000379987:exon5:c.G477C:p.Q159H,ENSG00000168743:ENST00000504304:exon5:c.G165C:p.Q55H,ENSG00000168743:ENST00000514622:exon5:c.G477C:p.Q159H,ENSG00000168743:ENST00000427316:exon6:c.G567C:p.Q189H,ENSG00000168743:ENST00000453617:exon6:c.G528C:p.Q176H,ENSG00000168743:ENST00000506666:exon6:c.G567C:p.Q189H,ENSG00000168743:ENST00000503451:exon7:c.G618C:p.Q206H Score=521;Name=lod=174 NA 4q24 NA NA NA NA rs35132891 0.32 0.32 0.31 0.324681 0.334 0.1825 0.3329 0.4607 0.272 0.32 0.2 0.35 0.43 0.3141 0.43 0.01 D 0.997 D 0.947 D 0.000 D 0.032 P 2.015 M 1.3 T -1.148 T 0.000 T 0.227 3.345 17.26 3.49 0.698 3.803 8.696 3.344923 3.344923 0.04 0.325233 0.410803 NA 0.377 NA 14.3600004 249 4 47901476 47901476 G A exonic NFXL1 NA nonsynonymous SNV NFXL1:NM_152995:exon6:c.C737T:p.P246L exonic ENSG00000170448 NA nonsynonymous SNV ENSG00000170448:ENST00000329043:exon6:c.C737T:p.P246L,ENSG00000170448:ENST00000381538:exon6:c.C737T:p.P246L,ENSG00000170448:ENST00000464756:exon6:c.C737T:p.P246L,ENSG00000170448:ENST00000507489:exon6:c.C737T:p.P246L Score=544;Name=lod=216 NA 4p12 NA NA NA NA rs12651301 0.42 0.42 0.423 0.388778 0.327 0.6002 0.3415 0.329 0.3487 0.35 0.63 0.35 0.33 0.3513 0.63 0.32 T 1.0 D 1.0 D 0.000 D 0.000 P 2.255 M 0.91 T -0.904 T 0.000 T 0.358 3.343 17.25 5.58 2.625 9.434 19.558 3.343126 3.343126 0 0.31 0.332501 NA 0.471 NA 14.3450334 250 17 21204187 21204187 G T exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon5:c.G194T:p.R65L,MAP2K3:NM_145109:exon5:c.G281T:p.R94L exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000342679:exon5:c.G281T:p.R94L,ENSG00000034152:ENST00000361818:exon5:c.G194T:p.R65L,ENSG00000034152:ENST00000496046:exon5:c.G281T:p.R94L,ENSG00000034152:ENST00000526076:exon5:c.G194T:p.R65L,ENSG00000034152:ENST00000316920:exon6:c.G194T:p.R65L Score=461;Name=lod=100 NA 17p11.2 NA NA NA NA rs56067280 0.5 0.5 0.52 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 0.01 D 0.982 D 0.671 P 0.000 D 0.000 P 0.595 N 1.09 T -1.001 T 0.000 T 0.953 3.314 17.14 5.08 2.359 7.845 18.482 3.314111 3.314111 0 NA NA ID=COSM288153;OCCURENCE=1(large_intestine) 0.5 NA 14.3335334 250 17 21202191 21202191 C A exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon3:c.C31A:p.P11T,MAP2K3:NM_145109:exon3:c.C118A:p.P40T exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000342679:exon3:c.C118A:p.P40T,ENSG00000034152:ENST00000361818:exon3:c.C31A:p.P11T,ENSG00000034152:ENST00000496046:exon3:c.C118A:p.P40T,ENSG00000034152:ENST00000526076:exon3:c.C31A:p.P11T,ENSG00000034152:ENST00000316920:exon4:c.C31A:p.P11T Score=381;Name=lod=47 NA 17p11.2 Score=964;Name=V$ZIC1_01 NA NA NA rs33911218 0.5 0.5 NA 0.000199681 NA NA NA 0.0008 NA 0.5 0.5 0.5 0.5 0.5 0.5 0.15 T 0.734 P 0.326 B 0.000 D 1.000 D 0.95 L -0.65 T -0.940 T 0.000 T 0.453 2.558 14.51 4.95 1.500 7.043 17.133 2.557959 2.557959 0.06 NA NA NA 0.5 NA 14.3333334 250 17 49072486 49072486 C T exonic SPAG9 NA nonsynonymous SNV SPAG9:NM_001251971:exon14:c.G1687A:p.D563N,SPAG9:NM_003971:exon17:c.G2116A:p.D706N,SPAG9:NM_001130527:exon18:c.G2128A:p.D710N,SPAG9:NM_001130528:exon18:c.G2158A:p.D720N exonic ENSG00000008294 NA nonsynonymous SNV ENSG00000008294:ENST00000510283:exon14:c.G1687A:p.D563N,ENSG00000008294:ENST00000357122:exon17:c.G2116A:p.D706N,ENSG00000008294:ENST00000262013:exon18:c.G2158A:p.D720N,ENSG00000008294:ENST00000505279:exon18:c.G2128A:p.D710N Score=325;Name=lod=28 NA 17q21.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03 D 0.449 B 0.265 B 0.001 N 1.000 D 1.75 L 1.88 T -1.067 T 0.087 T 0.055 4.233 22 5.59 2.621 7.135 19.596 4.2328 4.2328 0.01 NA NA NA NA NA 14.3333334 250 4 126373317 126373317 C T exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon9:c.C11146T:p.R3716C exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000335110:exon9:c.C6040T:p.R2014C,ENSG00000196159:ENST00000394329:exon9:c.C11146T:p.R3716C Score=343;Name=lod=33 NA 4q28.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001647 NA 0.01 D 0.219 B 0.034 B 0.003 U 1.000 D 1.845 L 0.53 T -0.862 T 0.156 T 0.941 2.938 15.79 4.92 1.445 4.651 14.756 2.937846 2.937846 0 NA NA ID=COSM232313,COSM232312;OCCURENCE=2(skin) NA NA 14.3333169 250 8 22267473 22267473 T G exonic SLC39A14 NA nonsynonymous SNV SLC39A14:NM_015359:exon4:c.T472G:p.F158V exonic ENSG00000104635 NA nonsynonymous SNV ENSG00000104635:ENST00000359741:exon4:c.T472G:p.F158V Score=568;Name=lod=272 NA 8p21.3 Score=836;Name=V$RREB1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001648 NA 0.28 T 0.007 B 0.039 B . . 1.000 D . . 0.9 T -1.077 T 0.073 T 0.165 2.572 14.56 4.08 0.995 3.230 6.333 2.571512 2.571512 0.3 NA NA NA NA NA 14.3333169 250 9 95263039 95263039 T C exonic ECM2 NA nonsynonymous SNV ECM2:NM_001197295:exon9:c.A1835G:p.H612R,ECM2:NM_001197296:exon9:c.A1835G:p.H612R,ECM2:NM_001393:exon9:c.A1901G:p.H634R exonic ENSG00000106823 NA nonsynonymous SNV ENSG00000106823:ENST00000344604:exon9:c.A1901G:p.H634R,ENSG00000106823:ENST00000444490:exon9:c.A1835G:p.H612R Score=568;Name=lod=272 NA 9q22.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001655 NA 0.46 T 0.158 B 0.065 B 0.000 D 1.000 D -0.93 N 0.72 T -1.061 T 0.043 T 0.195 1.868 12.2 3.96 2.058 3.539 9.821 1.867649 1.867649 0.51 NA NA NA NA NA 14.3333168 250 7 26224829 26224829 C G exonic NFE2L3 NA nonsynonymous SNV NFE2L3:NM_004289:exon4:c.C1511G:p.P504R exonic ENSG00000050344 NA nonsynonymous SNV ENSG00000050344:ENST00000056233:exon4:c.C1511G:p.P504R NA NA 7p15.2 NA Name=Pol2-4H8,RXRA,Pol2 Name=52 NA rs143155770 0.0005 0.0005 NA NA NA NA NA NA NA 0.0013 NA NA NA 0.00004942 0.0013 0.02 D 0.083 B 0.024 B 0.095 N 1.000 N 2.165 M 1.39 T -0.952 T 0.123 T 0.244 2.739 15.12 5.13 2.564 1.796 18.960 2.73945 2.73945 0.01 0.000233 0 NA NA NA 14.333051 250 14 105353232 105353232 A G exonic CEP170B NA nonsynonymous SNV CEP170B:NM_015005:exon11:c.A2446G:p.I816V,CEP170B:NM_001112726:exon12:c.A2656G:p.I886V exonic ENSG00000099814 NA nonsynonymous SNV ENSG00000099814:ENST00000418279:exon11:c.A2446G:p.I816V,ENSG00000099814:ENST00000556508:exon11:c.A2446G:p.I816V,ENSG00000099814:ENST00000414716:exon12:c.A2656G:p.I886V,ENSG00000099814:ENST00000453495:exon12:c.A2659G:p.I887V Score=278;Name=lod=18 NA 14q32.33 NA NA NA NA rs373327078 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004316 0.0002 0.02 D 0.985 D 0.952 D 0.000 N 1.000 D 1.655 L 0.4 T -0.652 T 0.262 T 0.177 1.781 11.92 2.15 0.592 3.784 7.858 1.781197 1.781197 0 0.000243 0 NA NA NA 14.3330472 250 1 159410402 159410402 C T exonic OR10J1 NA nonsynonymous SNV OR10J1:NM_012351:exon1:c.C854T:p.S285L exonic ENSG00000196184 NA nonsynonymous SNV ENSG00000196184:ENST00000423932:exon1:c.C854T:p.S285L NA NA 1q23.2 NA NA NA NA rs144480627 NA NA NA 0.000399361 NA NA NA 0.0015 NA NA NA NA NA 0.0003 0.0018 0 D 1.0 D 0.99 D 0.004 N 1.000 N 2.925 M 8.39 T -1.040 T 0.001 T 0.325 3.114 16.41 3.51 1.189 3.629 10.227 3.114426 3.114426 0 0 0.001816 NA NA NA 14.3330334 250 17 44248783 44248783 G T exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon2:c.C727A:p.Q243K,KANSL1:NM_015443:exon2:c.C727A:p.Q243K,KANSL1:NM_001193465:exon3:c.C727A:p.Q243K exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000432791:exon1:c.C727A:p.Q243K,ENSG00000120071:ENST00000575318:exon1:c.C727A:p.Q243K,ENSG00000120071:ENST00000262419:exon2:c.C727A:p.Q243K,ENSG00000120071:ENST00000572904:exon2:c.C727A:p.Q243K,ENSG00000120071:ENST00000574590:exon2:c.C727A:p.Q243K Score=472;Name=lod=110 NA 17q21.31 Score=767;Name=V$STAT3_01 NA NA NA rs142096969 NA NA NA 0.000798722 0.001 NA 0.0043 NA NA NA NA NA NA 0.0018 0.0024 0.5 T 0.103 B 0.058 B 0.000 D 1.000 D 0.345 N 2.72 T -0.977 T 0.022 T 0.492 1.556 11.16 6.04 2.873 2.286 13.678 1.556207 1.556207 0.47 0.002442 0.000227 NA NA NA 14.3280914 250 8 110131553 110131553 G A exonic TRHR NA nonsynonymous SNV TRHR:NM_003301:exon2:c.G1066A:p.V356I exonic ENSG00000174417 NA nonsynonymous SNV ENSG00000174417:ENST00000311762:exon2:c.G1066A:p.V356I,ENSG00000174417:ENST00000518632:exon3:c.G1066A:p.V356I Score=426;Name=lod=72 NA 8q23.1 Score=912;Name=V$TCF11_01 NA NA NA rs147019235 0.0014 0.0014 0 0.000798722 0.003 NA NA 0.0008 NA 0.004 NA NA NA 0.0021 0.004 0.28 T 0.448 B 0.091 B 0.000 N 1.000 D 2.22 M -0.23 T -0.689 T 0.247 T 0.064 3.02 16.07 4.93 1.471 4.569 14.268 3.02009 3.02009 0.03 0.001861 0.002497 NA NA NA 14.3263724 251 17 4863540 4863540 T C exonic SPAG7 NA nonsynonymous SNV SPAG7:NM_004890:exon4:c.A316G:p.I106V exonic ENSG00000091640 NA nonsynonymous SNV ENSG00000091640:ENST00000206020:exon4:c.A316G:p.I106V,ENSG00000091640:ENST00000573366:exon4:c.A163G:p.I55V,ENSG00000091640:ENST00000575142:exon4:c.A283G:p.I95V Score=613;Name=lod=415 NA 17p13.2 Score=760;Name=V$TCF11MAFG_01 NA NA NA rs73343382 0.02 0.02 0.023 0.0307508 0.001 NA 0.0058 0.1127 NA 0.0013 NA 0.0028 0.09 0.0092 0.09 1 T 0.003 B 0.008 B 0.000 D 0.987 D 0.76 N 0.94 T -1.113 T 0.003 T 0.09 -0.732 0.871 5.3 2.225 1.809 13.238 -0.732127 NA 0.85 0.000477 0.089985 NA 0.058 NA 14.3226564 251 15 69328226 69328226 C T exonic NOX5 NA nonsynonymous SNV NOX5:NM_001184779:exon7:c.C1054T:p.L352F,NOX5:NM_001184780:exon7:c.C1033T:p.L345F,NOX5:NM_024505:exon7:c.C1138T:p.L380F exonic ENSG00000255346 NA nonsynonymous SNV ENSG00000255346:ENST00000525143:exon4:c.C538T:p.L180F,ENSG00000255346:ENST00000388866:exon7:c.C1138T:p.L380F,ENSG00000255346:ENST00000455873:exon7:c.C1033T:p.L345F,ENSG00000255346:ENST00000530406:exon7:c.C1054T:p.L352F,ENSG00000255346:ENST00000260364:exon8:c.C1084T:p.L362F,ENSG00000255346:ENST00000448182:exon8:c.C1000T:p.L334F Score=530;Name=lod=190 NA 15q23 NA Name=CTCF,Max,Rad21,SMC3_(ab9263),E2F6_(H-50),Znf143_(16618-1-AP),CTCFL_(SC-98982),c-Myc,CTCF_(C-20),CTCF_(SC-5916) Name=30 NA rs12907196 0.31 0.31 0.294 0.271166 0.5358 0.124 0.33 0.1135 0.3221 0.54 0.14 0.35 0.11 0.4233 0.56 0.12 T 0.975 D 0.791 P 0.039 N 0.003 P 2.105 M -3.14 D -1.022 T 0.000 T 0.148 2.599 14.65 1.18 1.433 0.984 6.601 2.599053 2.599053 0.01 0.555142 0.171818 NA 0.304 NA 14.3190914 251 8 94738629 94738629 G A exonic FAM92A1 NA unknown UNKNOWN exonic ENSG00000188343 NA nonsynonymous SNV ENSG00000188343:ENST00000519679:exon3:c.G200A:p.R67Q,ENSG00000188343:ENST00000517718:exon4:c.G200A:p.R67Q,ENSG00000188343:ENST00000521641:exon4:c.G200A:p.R67Q,ENSG00000188343:ENST00000423990:exon7:c.G551A:p.R184Q,ENSG00000188343:ENST00000452913:exon8:c.G665A:p.R222Q,ENSG00000188343:ENST00000518322:exon8:c.G665A:p.R222Q,ENSG00000188343:ENST00000518116:exon9:c.G751A:p.E251K Score=628;Name=lod=474 NA 8q22.1 NA NA NA NA rs36117362 0.08 0.08 0.067 0.0623003 0.1252 NA 0.1037 0.0492 0.0501 0.13 NA 0.14 0.04 0.1015 0.14 0.01 D 0.325 B 0.041 B 0.000 D 1.000 D 2.135 M 2.54 T -1.149 T 0.001 T 0.793 3.49 17.85 5.5 2.732 7.835 19.762 3.490072 3.490072 0 0.124049 0.050633 NA 0.094 NA 14.3159177 252 3 97983711 97983711 T C exonic OR5H6 NA nonsynonymous SNV OR5H6:NM_001005479:exon1:c.T583C:p.C195R exonic ENSG00000230301 NA nonsynonymous SNV ENSG00000230301:ENST00000383696:exon1:c.T583C:p.C195R Score=352;Name=lod=36 NA 3q11.2 NA NA NA NA rs9853887 0.64 0.64 0.65 0.625 0.6849 0.621 0.598 0.587 0.638 0.68 0.68 0.57 0.59 0.656 0.68 0 D 0.999 D 0.991 D 0.000 D 0.000 P 4.42 H 0.02 T -0.900 T 0.000 T 0.21 2.723 15.07 2.19 1.006 6.506 7.966 2.722741 2.722741 0 0.678771 0.631244 NA 0.457 NA 14.3136624 252 7 143657232 143657232 A G exonic OR2F1 NA nonsynonymous SNV OR2F1:NM_012369:exon1:c.A169G:p.T57A exonic ENSG00000213215 NA nonsynonymous SNV ENSG00000213215:ENST00000392899:exon1:c.A169G:p.T57A Score=304;Name=lod=23 NA 7q35 NA NA NA NA rs61731392 0.04 0.04 0.034 0.0491214 0.003 NA 0.0216 0.1717 0.001 0.0013 NA 0.03 0.17 0.0155 0.17 0 D 0.409 B 0.11 B 0.000 D 0.772 P 2.595 M 7.19 T -0.866 T 0.000 T 0.272 2.526 14.41 5.65 2.371 2.957 13.874 2.525848 2.525848 0.01 0.002211 0.148888 NA 0.058 NA 14.3126224 252 7 94946084 94946084 A T exonic PON1 NA nonsynonymous SNV PON1:NM_000446:exon3:c.T163A:p.L55M exonic ENSG00000005421 NA nonsynonymous SNV ENSG00000005421:ENST00000222381:exon3:c.T163A:p.L55M,ENSG00000005421:ENST00000433729:exon3:c.T163A:p.L55M,ENSG00000005421:ENST00000542556:exon3:c.T163A:p.L55M Score=505;Name=lod=151 NA 7q21.3 NA Name=PU.1 Name=4 NA rs854560 0.2 0.2 0.199 0.182708 0.3579 0.0337 0.2061 0.1498 0.184 0.35 0.03 0.24 0.15 0.2913 0.37 0.02 D 0.983 D 0.925 D 0.001 D 0.500 P 1.845 L 0.79 T -1.032 T 0.000 T 0.226 3.71 18.84 -1.76 -0.066 0.196 4.210 3.7095 3.7095 0.04 0.373023 0.172946 NA 0.275 CLINSIG=other|other|pathogenic;CLNDBN=Coronary_artery_disease\x2c_susceptibility_to|Microvascular_complications_of_diabetes_5|Enzyme_activity_finding;CLNREVSTAT=single|single|single;CLNACC=RCV000014742.1|RCV000014743.1|RCV000133465.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=C1840169|C2674665:612633|C1827841:424017009 14.3111104 252 11 59211188 59211188 G A exonic OR5A1 NA nonsynonymous SNV OR5A1:NM_001004728:exon1:c.G547A:p.D183N exonic ENSG00000172320 NA nonsynonymous SNV ENSG00000172320:ENST00000302030:exon1:c.G547A:p.D183N Score=436;Name=lod=79 NA 11q12.1 Score=939;Name=V$ZIC3_01 NA NA NA rs6591536 0.62 0.62 0.615 0.635383 0.6938 0.7609 0.5836 0.4433 0.7423 0.68 0.73 0.57 0.46 0.66 0.73 0.02 D 1.0 D 1.0 D 0.001 N 0.001 P 2.755 M 8.59 T -1.097 T 0.000 T 0.132 3.92 19.94 5.98 2.835 7.834 14.736 3.920313 3.920313 0 0.673458 0.4791 NA 0.659 NA 14.3060754 252 3 436384 436384 A T exonic CHL1 NA nonsynonymous SNV CHL1:NM_001253388:exon22:c.A2923T:p.T975S,CHL1:NM_001253387:exon23:c.A2875T:p.T959S,CHL1:NM_006614:exon24:c.A2923T:p.T975S exonic ENSG00000134121 NA nonsynonymous SNV ENSG00000134121:ENST00000397491:exon23:c.A2875T:p.T959S,ENSG00000134121:ENST00000256509:exon24:c.A2923T:p.T975S Score=428;Name=lod=73 NA 3p26.3 NA NA NA NA rs145162591 0.01 0.01 0.004 0.00299521 0.0099 NA 0.0058 0.0008 NA 0.01 NA 0.01 0.002 0.0062 0.012 0.17 T 0.609 P 0.565 P 0.000 D 1.000 D 1.435 L 0.44 T -0.843 T 0.157 T 0.25 3.709 18.84 5.47 2.060 8.158 15.509 3.708601 3.708601 0.15 0.01186 0.002724 NA 0.007 NA 14.3053734 252 4 169369920 169369920 C T exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon9:c.G1007A:p.C336Y exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000505863:exon3:c.G191A:p.C64Y,ENSG00000181381:ENST00000260184:exon9:c.G1007A:p.C336Y,ENSG00000181381:ENST00000505890:exon9:c.G1007A:p.C336Y,ENSG00000181381:ENST00000511577:exon9:c.G1007A:p.C336Y Score=358;Name=lod=38 NA 4q32.3 NA NA NA NA rs12507582 0.37 0.37 0.333 0.328474 0.3429 0.619 0.5159 0.0212 0.2965 0.34 0.65 0.47 0.03 0.3539 0.65 0 D 1.0 D 0.999 D 0.001 U 0.989 P 2.08 M 2.41 T -0.954 T 0.000 T 0.386 2.402 13.99 2.46 1.346 3.413 9.910 2.402486 2.402486 0 0.331199 0.072808 NA 0.29 NA 14.3053344 253 1 92163646 92163646 G A exonic TGFBR3 NA nonsynonymous SNV TGFBR3:NM_001195683:exon15:c.C2326T:p.P776S,TGFBR3:NM_003243:exon15:c.C2329T:p.P777S,TGFBR3:NM_001195684:exon16:c.C2326T:p.P776S exonic ENSG00000069702 NA nonsynonymous SNV ENSG00000069702:ENST00000525962:exon14:c.C2329T:p.P777S,ENSG00000069702:ENST00000212355:exon15:c.C2329T:p.P777S,ENSG00000069702:ENST00000465892:exon15:c.C2326T:p.P776S,ENSG00000069702:ENST00000370399:exon16:c.C2326T:p.P776S Score=456;Name=lod=95 NA 1p22.1 NA Name=CEBPB Name=68 NA rs2228363 0.01 0.01 0.004 0.00419329 0.0099 NA 0.0086 NA 0.0051 0.01 NA 0.01 NA 0.0066 0.012 . . 0.01 B 0.009 B 0.075 N 0.876 D -1.1 N 1.5 T -0.998 T 0.012 T 0.212 2.033 12.76 5.03 2.470 4.431 14.219 2.03337 2.03337 0.61 0.012093 0.001589 NA NA NA 14.3047404 253 11 111635566 111635566 C T exonic PPP2R1B NA nonsynonymous SNV PPP2R1B:NM_001177562:exon3:c.G269A:p.G90D,PPP2R1B:NM_001177563:exon3:c.G269A:p.G90D,PPP2R1B:NM_002716:exon3:c.G269A:p.G90D,PPP2R1B:NM_181699:exon3:c.G269A:p.G90D exonic ENSG00000137713 NA nonsynonymous SNV ENSG00000137713:ENST00000311129:exon3:c.G269A:p.G90D,ENSG00000137713:ENST00000341980:exon3:c.G269A:p.G90D,ENSG00000137713:ENST00000393055:exon3:c.G269A:p.G90D,ENSG00000137713:ENST00000527614:exon3:c.G269A:p.G90D,ENSG00000137713:ENST00000531373:exon3:c.G224A:p.G75D,ENSG00000137713:ENST00000534521:exon3:c.G269A:p.G90D Score=654;Name=lod=606 NA 11q23.1 NA NA Name=53 NA rs1805076 0.01 0.01 0.006 0.00359425 0.0139 NA 0.0043 NA 0.001 0.02 NA 0.01 NA 0.0063 0.02 0.27 T 0.0 B 0.0 B 0.031 N 1.000 D -1.415 N 3.45 T -1.061 T 0.011 T 0.302 0.444 6.409 3.22 1.383 2.531 9.573 0.443517 NA 0.31 0.012218 0.002726 NA 0.007 CLINSIG=pathogenic;CLNDBN=Lung_cancer;CLNREVSTAT=single;CLNACC=RCV000007000.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0684249:211980:187875007 14.3009154 254 1 26665873 26665873 C G exonic AIM1L NA nonsynonymous SNV AIM1L:NM_001039775:exon6:c.G3252C:p.K1084N exonic ENSG00000176092 NA nonsynonymous SNV ENSG00000176092:ENST00000308182:exon5:c.G117C:p.K39N,ENSG00000176092:ENST00000527815:exon5:c.G630C:p.K210N Score=504;Name=lod=149 NA 1p36.11 NA Name=CTCF,ELF1_(SC-631),CTCF_(SC-5916) Name=5 NA rs142035096 0.01 0.01 NA 0.0071885 0.0159 NA 0.0101 0.0015 0.0112 0.02 NA 0.01 0.002 0.0125 0.02 0.39 T 0.837 P 0.597 P 0.000 D 1.000 D 2.25 M -1.04 T -0.656 T 0.244 T 0.044 2.343 13.79 0.98 -0.014 -0.070 4.136 2.342862 2.342862 0.21 0.011047 0.004085 NA NA NA 14.2938864 254 16 72831111 72831111 G C exonic ZFHX3 NA nonsynonymous SNV ZFHX3:NM_001164766:exon8:c.C2728G:p.L910V,ZFHX3:NM_006885:exon9:c.C5470G:p.L1824V exonic ENSG00000140836 NA nonsynonymous SNV ENSG00000140836:ENST00000397992:exon8:c.C2728G:p.L910V,ENSG00000140836:ENST00000268489:exon9:c.C5470G:p.L1824V Score=361;Name=lod=39 NA 16q22.2 NA NA NA NA rs79037957 0.01 0.01 0.009 0.00439297 0.0189 NA 0.0014 0.0008 0.001 0.02 0.0017 NA 0.002 0.0111 0.02 0.02 D 0.948 P 0.458 P 0.001 N 0.999 D 1.04 L -1.28 T -0.463 T 0.221 T 0.394 0.137 4.736 5.07 1.528 1.629 10.661 0.136913 NA NA 0.012674 0.002502 NA NA NA 14.2906594 254 2 96798440 96798440 C T exonic ASTL NA nonsynonymous SNV ASTL:NM_001002036:exon6:c.G476A:p.R159H exonic ENSG00000188886 NA nonsynonymous SNV ENSG00000188886:ENST00000342380:exon6:c.G476A:p.R159H NA NA 2q11.1 NA NA NA NA rs61735195 0.01 0.01 0.002 0.00658946 0.0129 NA 0.0173 0.0015 0.0061 0.01 NA 0.02 NA 0.0124 0.02 0.04 D 0.952 P 0.507 P 0.000 D 0.982 N 2.25 M -0.24 T -0.710 T 0.177 T 0.127 3.591 18.29 3.69 2.211 2.049 11.246 3.591213 3.591213 0.04 0.018953 0.00227 NA NA NA 14.2890804 254 15 91827271 91827271 A G exonic SV2B NA nonsynonymous SNV SV2B:NM_001167580:exon10:c.A1075G:p.I359V,SV2B:NM_014848:exon12:c.A1528G:p.I510V exonic ENSG00000185518 NA nonsynonymous SNV ENSG00000185518:ENST00000330276:exon10:c.A1528G:p.I510V,ENSG00000185518:ENST00000545111:exon10:c.A1075G:p.I359V,ENSG00000185518:ENST00000394232:exon11:c.A1528G:p.I510V,ENSG00000185518:ENST00000557410:exon12:c.A1528G:p.I510V Score=618;Name=lod=433 NA 15q26.1 NA Name=CTCF NA NA rs117361551 0.01 0.01 0.004 0.0111821 0.0169 NA 0.013 0.0008 0.0297 0.02 NA 0.01 NA 0.0126 0.022 0.61 T 0.094 B 0.123 B 0.000 D 0.999 D 1.2 L 1.0 T -1.070 T 0.051 T 0.123 1.275 10.16 5.61 2.152 2.317 14.687 1.274723 1.274723 0.5 0.014774 0.00273 NA 0.014 NA 14.2890594 254 1 26110236 26110236 G A exonic MAN1C1 NA nonsynonymous SNV MAN1C1:NM_020379:exon12:c.G1849A:p.V617M exonic ENSG00000117643 NA nonsynonymous SNV ENSG00000117643:ENST00000374329:exon11:c.G1162A:p.V388M,ENSG00000117643:ENST00000374332:exon12:c.G1849A:p.V617M,ENSG00000117643:ENST00000263979:exon13:c.G1309A:p.V437M NA NA 1p36.11 Score=756;Name=V$STAT3_01 NA NA NA rs79507311 0.01 0.01 0.011 0.0061901 0.0239 0.001 0.0043 0.0008 0.002 0.02 0.0017 0.01 0.002 0.0104 0.02 0.04 D 0.999 D 0.988 D 0.004 N 0.852 N 2.685 M -0.74 T -0.347 T 0.372 T 0.251 3.489 17.85 2.26 0.182 1.342 8.806 3.489365 3.489365 0 0.013837 0.001362 NA 0.029 NA 14.2851964 255 17 33269648 33269648 C G exonic CCT6B NA nonsynonymous SNV CCT6B:NM_001193529:exon6:c.G629C:p.G210A,CCT6B:NM_001193530:exon6:c.G605C:p.G202A,CCT6B:NM_006584:exon7:c.G740C:p.G247A exonic ENSG00000132141 NA nonsynonymous SNV ENSG00000132141:ENST00000585073:exon5:c.G314C:p.G105A,ENSG00000132141:ENST00000421975:exon6:c.G629C:p.G210A,ENSG00000132141:ENST00000436961:exon6:c.G605C:p.G202A,ENSG00000132141:ENST00000314144:exon7:c.G740C:p.G247A Score=630;Name=lod=484 NA 17q12 NA NA NA NA rs2230553 0.27 0.27 0.258 0.243211 0.3728 0.2639 0.1859 0.149 0.2566 0.38 0.23 0.21 0.18 0.3089 0.38 0.03 D 0.588 P 0.458 P 0.000 D 0.000 P 3.255 M -0.27 T -1.074 T 0.000 T 0.211 3.245 16.88 4.06 2.220 7.019 14.094 3.244978 3.244978 0.01 0.367109 0.173864 NA 0.225 NA 14.2845244 255 2 218747073 218747073 A C exonic TNS1 NA nonsynonymous SNV TNS1:NM_022648:exon15:c.T933G:p.I311M exonic ENSG00000079308 NA nonsynonymous SNV ENSG00000079308:ENST00000310858:exon12:c.T1026G:p.I342M,ENSG00000079308:ENST00000413554:exon12:c.T1137G:p.I379M,ENSG00000079308:ENST00000419504:exon14:c.T933G:p.I311M,ENSG00000079308:ENST00000430930:exon14:c.T933G:p.I311M,ENSG00000079308:ENST00000171887:exon15:c.T933G:p.I311M,ENSG00000079308:ENST00000446903:exon17:c.T1308G:p.I436M Score=489;Name=lod=130 NA 2q35 Score=835;Name=V$OCT1_02 NA NA NA rs11680854 0.01 0.01 0.005 0.0103834 0.0169 0.001 0.036 0.0023 0.0061 0.02 0.0017 0.03 0.0041 0.0157 0.03 0.06 T 1.0 D 0.997 D 0.003 U 0.999 D 2.165 M -3.17 D -0.941 T 0.093 T 0.589 2.998 16 0.438 -0.060 0.027 5.747 2.998004 2.998004 0 0.01907 0.004766 NA NA NA 14.2816634 255 19 7573098 7573098 T A exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon9:c.T1300A:p.Y434N exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon9:c.T1300A:p.Y434N Score=346;Name=lod=34 NA 19p13.2 Score=917;Name=V$MSX1_01 Name=Pol2,eGFP-JunD,FOSL1_(SC-183),c-Jun,c-Fos,Pol2-4H8,eGFP-FOS NA NA rs475923 0.32 0.32 0.298 0.288339 0.3628 0.1746 0.3833 0.295 0.2526 0.37 0.2 0.42 0.3 0.327 0.42 0.8 T 1.0 D 0.999 D 0.020 N 0.556 P 1.905 M 1.24 T -0.972 T 0.000 T 0.285 2.437 14.11 4.05 1.839 0.047 9.577 2.436592 2.436592 0.87 0.363922 0.298457 ID=COSM440623;OCCURENCE=1(breast) 0.362 NA 14.2796114 255 2 55544736 55544736 T C exonic CCDC88A NA nonsynonymous SNV CCDC88A:NM_001135597:exon20:c.A3563G:p.K1188R,CCDC88A:NM_001254943:exon20:c.A3563G:p.K1188R,CCDC88A:NM_018084:exon20:c.A3566G:p.K1189R exonic ENSG00000115355 NA nonsynonymous SNV ENSG00000115355:ENST00000412148:exon4:c.A701G:p.K234R,ENSG00000115355:ENST00000426576:exon6:c.A1091G:p.K364R,ENSG00000115355:ENST00000263630:exon20:c.A3566G:p.K1189R,ENSG00000115355:ENST00000336838:exon20:c.A3563G:p.K1188R,ENSG00000115355:ENST00000413716:exon20:c.A3563G:p.K1188R,ENSG00000115355:ENST00000436346:exon20:c.A3566G:p.K1189R Score=581;Name=lod=306 NA 2p16.1 NA NA NA NA rs41281501 0.01 0.01 0.01 0.00798722 0.0308 NA 0.0043 NA 0.0061 0.04 NA 0.01 NA 0.0118 0.04 0.57 T 0.999 D 0.995 D 0.000 U 1.000 D 0.105 N 3.06 T -1.098 T 0.026 T 0.115 1.298 10.25 4.77 1.066 4.970 11.906 1.297787 1.297787 0.54 0.011977 0.003858 NA NA NA 14.2787564 255 2 74699595 74699595 G T exonic MRPL53 NA nonsynonymous SNV MRPL53:NM_053050:exon2:c.C95A:p.T32N exonic ENSG00000204822 NA nonsynonymous SNV ENSG00000204822:ENST00000258105:exon2:c.C95A:p.T32N Score=504;Name=lod=149 NA 2p13.1 NA Name=Pol2,Sin3Ak-20,KAP1,E2F6,ETS1,E2F6_(H-50) Name=56 NA rs78834087 0.01 0.01 0.007 0.00778754 0.0258 NA 0.0173 NA 0.001 0.02 NA 0.01 NA 0.0126 0.02 0.3 T 0.213 B 0.096 B 0.000 D 1.000 D -0.345 N 0.91 T -1.089 T 0.023 T 0.044 0.533 6.887 3.63 1.367 0.674 7.890 0.533193 NA 0.54 0.017093 0.002951 NA NA NA 14.2778404 256 6 29910572 29910572 C T exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon2:c.C112T:p.R38W,ENSG00000206503:ENST00000376806:exon2:c.C112T:p.R38W,ENSG00000206503:ENST00000376809:exon2:c.C112T:p.R38W,ENSG00000206503:ENST00000396634:exon4:c.C112T:p.R38W Score=295;Name=lod=21 NA 6p22.1 NA Name=CTCF,Pol2-4H8 Name=11 NA rs45569434 0.04 0.04 0.067 NA NA NA NA NA NA 0.03 0.01 0.06 0.06 0.0603 0.06 0 D 1.0 D 0.98 D 0.690 U 0.991 N 3.54 H 5.54 T -0.994 T 0.009 T 0.742 2.152 13.15 1.87 0.363 0.209 5.323 2.151849 2.151849 0 NA NA ID=COSM1442948;OCCURENCE=1(large_intestine) NA NA 14.2730334 256 2 11927238 11927238 G A exonic LPIN1 NA nonsynonymous SNV LPIN1:NM_145693:exon10:c.G1480A:p.V494M,LPIN1:NM_001261427:exon11:c.G1498A:p.V500M,LPIN1:NM_001261428:exon12:c.G1735A:p.V579M exonic ENSG00000134324 NA nonsynonymous SNV ENSG00000134324:ENST00000396097:exon6:c.G670A:p.V224M,ENSG00000134324:ENST00000256720:exon10:c.G1480A:p.V494M,ENSG00000134324:ENST00000425416:exon11:c.G1498A:p.V500M,ENSG00000134324:ENST00000396099:exon12:c.G1606A:p.V536M,ENSG00000134324:ENST00000449576:exon12:c.G1735A:p.V579M Score=497;Name=lod=139 NA 2p25.1 NA NA NA NA rs33997857 0.01 0.01 0.009 0.0071885 0.0229 NA 0.013 0.0008 0.0031 0.02 NA 0.02 0.002 0.0157 0.022 0.02 D 0.947 P 0.847 P 0.020 N 1.000 D 1.83 L -0.56 T -0.257 T 0.310 T 0.225 4.18 21.6 5.57 2.630 4.249 19.553 4.179907 4.179907 0 0.022093 0.004993 NA 0.014 NA 14.2726404 256 2 74690378 74690378 C T exonic MOGS NA nonsynonymous SNV MOGS:NM_006302:exon3:c.G715A:p.D239N,MOGS:NM_001146158:exon4:c.G397A:p.D133N exonic ENSG00000115275 NA nonsynonymous SNV ENSG00000115275:ENST00000233616:exon3:c.G715A:p.D239N,ENSG00000115275:ENST00000414701:exon3:c.G358A:p.D120N,ENSG00000115275:ENST00000448666:exon4:c.G397A:p.D133N,ENSG00000115275:ENST00000452063:exon4:c.G397A:p.D133N Score=500;Name=lod=144 NA 2p13.1 Score=881;Name=V$CREB_02 NA NA NA rs1063588 0.49 0.49 0.51 0.51877 0.1581 0.8214 0.3127 0.8086 0.3323 0.15 0.82 0.26 0.79 0.2669 0.82 0.42 T 0.561 P 0.23 B 0.001 D 0.000 P 0.525 N 1.23 T -1.077 T 0.000 T 0.068 1.983 12.59 4.85 2.504 0.994 13.347 1.983034 1.983034 0.75 0.13632 0.674012 NA 0.413 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081381.1;CLNDSDB=.;CLNDSDBID=. 14.2720134 257 19 38673353 38673353 G A exonic SIPA1L3 NA nonsynonymous SNV SIPA1L3:NM_015073:exon16:c.G4403A:p.R1468Q exonic ENSG00000105738 NA nonsynonymous SNV ENSG00000105738:ENST00000601054:exon2:c.G242A:p.R81Q,ENSG00000105738:ENST00000222345:exon16:c.G4403A:p.R1468Q Score=300;Name=lod=22 NA 19q13.13 Score=906;Name=V$P300_01 NA NA NA rs61729145 0.01 0.01 0.01 0.00778754 0.0268 0.001 0.0072 0.0023 0.0031 0.02 NA 0.01 0.0041 0.0178 0.029 0.37 T 0.972 D 0.25 B 0.240 N 0.667 D 0.205 N -0.95 T -0.787 T 0.073 T 0.195 2.69 14.95 5.39 2.515 3.634 13.642 2.689767 2.689767 0.06 0.028488 0.003404 NA 0.007 NA 14.2602454 257 5 149509446 149509446 C T exonic PDGFRB NA nonsynonymous SNV PDGFRB:NM_002609:exon10:c.G1453A:p.E485K exonic ENSG00000113721 NA nonsynonymous SNV ENSG00000113721:ENST00000261799:exon10:c.G1453A:p.E485K Score=395;Name=lod=54 NA 5q32 NA Name=E2F6_(H-50),Egr-1,ZNF263,E2F6,c-Myc,CTCF Name=145 NA rs41287110 0.02 0.02 0.02 0.0107827 0.0328 NA 0.0216 0.0015 0.0041 0.04 NA 0.03 0.0041 0.0187 0.04 0.38 T 0.126 B 0.034 B 0.001 N 0.952 D 0.69 N -0.98 T -0.921 T 0.063 T 0.191 2.214 13.36 3.73 2.409 1.826 12.511 2.214386 2.214386 0.47 0.026047 0.004766 NA NA NA 14.2557864 258 9 19290794 19290794 A C exonic DENND4C NA nonsynonymous SNV DENND4C:NM_017925:exon5:c.A721C:p.I241L exonic ENSG00000137145 NA nonsynonymous SNV ENSG00000137145:ENST00000380432:exon1:c.A13C:p.I5L,ENSG00000137145:ENST00000434457:exon5:c.A721C:p.I241L,ENSG00000137145:ENST00000602925:exon5:c.A721C:p.I241L Score=676;Name=lod=748 NA 9p22.1 NA NA NA NA rs41269019 0.02 0.02 0.013 0.0115815 0.0338 NA 0.0274 0.0015 0.0031 0.03 NA 0.04 NA 0.0195 0.04 0.41 T 0.996 D 0.915 D 0.003 U 1.000 D 1.62 L . . -0.871 T 0.093 T 0.7 4.716 26.2 5.44 2.287 6.109 15.656 4.716165 4.716165 0.01 0.029433 0.007069 NA 0.022 NA 14.2506004 258 11 6891758 6891758 A C exonic OR10A2 NA nonsynonymous SNV OR10A2:NM_001004460:exon1:c.A773C:p.K258T exonic ENSG00000170790 NA nonsynonymous SNV ENSG00000170790:ENST00000307322:exon1:c.A773C:p.K258T Score=361;Name=lod=39 NA 11p15.4 NA NA NA NA rs7926083 0.31 0.31 0.307 0.324481 0.3569 0.3135 0.3732 0.2073 0.4264 0.36 0.31 0.35 0.2 0.3533 0.37 0.01 D 0.999 D 0.993 D 0.001 D 0.791 P 0.805 L 8.71 T -0.606 T 0.000 T 0.232 1.658 11.5 4.18 1.908 2.229 11.568 1.657657 1.657657 0.02 0.373021 0.201045 NA 0.268 NA 14.2501124 258 21 43505436 43505436 G A exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001004416:exon4:c.G517A:p.V173I,UMODL1:NM_001199527:exon4:c.G301A:p.V101I,UMODL1:NM_001199528:exon4:c.G301A:p.V101I,UMODL1:NM_173568:exon4:c.G517A:p.V173I exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400424:exon4:c.G301A:p.V101I,ENSG00000177398:ENST00000400427:exon4:c.G301A:p.V101I,ENSG00000177398:ENST00000408910:exon4:c.G517A:p.V173I,ENSG00000177398:ENST00000408989:exon4:c.G517A:p.V173I Score=369;Name=lod=42 NA 21q22.3 NA NA NA NA rs73371577 0.07 0.07 0.069 0.0609026 0.0258 0.1567 0.0432 0.028 0.0552 0.02 0.17 0.05 0.02 0.0434 0.17 0.01 D 1.0 D 0.966 D 0.002 N 0.567 P 2.045 M -1.05 T -0.919 T 0.003 T 0.133 3.408 17.51 3.01 0.926 2.780 9.273 3.407549 3.407549 0 0.018841 0.017969 NA 0.065 NA 14.2452924 259 15 43020983 43020983 G A exonic CDAN1 NA nonsynonymous SNV CDAN1:NM_138477:exon20:c.C2671T:p.R891C exonic ENSG00000140326 NA nonsynonymous SNV ENSG00000140326:ENST00000562465:exon7:c.C664T:p.R222C,ENSG00000140326:ENST00000356231:exon20:c.C2671T:p.R891C Score=493;Name=lod=134 NA 15q15.2 NA NA Name=3 NA rs8023524 0.21 0.21 0.238 0.262979 0.1859 0.0496 0.1282 0.4924 0.3476 0.2 0.06 0.14 0.45 0.2158 0.45 0.05 D 0.993 D 0.491 P 0.457 N 0.164 P 1.39 L -1.13 T -0.995 T 0.000 T 0.172 3.65 18.56 3.79 1.447 0.862 8.391 3.650453 3.650453 0.01 0.188416 0.428053 NA 0.261 CLINSIG=non-pathogenic;CLNDBN=Congenital_dyserythropoietic_anemia\x2c_type_I;CLNREVSTAT=single;CLNACC=RCV000020955.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK5313:C0271933:224120:ORPHA98869:59548005 14.2432174 259 7 11871406 11871406 G C exonic THSD7A NA nonsynonymous SNV THSD7A:NM_015204:exon1:c.C167G:p.P56R exonic ENSG00000005108 NA nonsynonymous SNV ENSG00000005108:ENST00000423059:exon1:c.C167G:p.P56R Score=415;Name=lod=65 NA 7p21.3 Score=917;Name=V$PAX4_03 Name=Rad21,CTCF,Pol2 Name=105 NA rs140474426 0.02 0.02 0.008 0.019369 0.0209 0.001 0.0519 0.0008 0.0389 0.02 0.0017 0.06 0.002 0.0377 0.06 0.53 T 0.099 B 0.04 B 0.358 U 0.959 N 0.46 N 0.3 T -1.098 T 0.019 T 0.28 1.235 10.02 4.79 2.482 4.202 13.112 1.235474 1.235474 0.6 0.033084 0.006801 ID=COSM1235712;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 14.2416494 259 12 109936056 109936056 T C exonic UBE3B NA nonsynonymous SNV UBE3B:NM_130466:exon11:c.T838C:p.S280P,UBE3B:NM_183415:exon11:c.T838C:p.S280P exonic ENSG00000151148 NA nonsynonymous SNV ENSG00000151148:ENST00000539599:exon10:c.T838C:p.S280P,ENSG00000151148:ENST00000280774:exon11:c.T838C:p.S280P,ENSG00000151148:ENST00000342494:exon11:c.T838C:p.S280P,ENSG00000151148:ENST00000434735:exon11:c.T838C:p.S280P,ENSG00000151148:ENST00000449510:exon11:c.T838C:p.S280P Score=483;Name=lod=122 NA 12q24.11 NA NA Name=5 NA rs61748069 0.02 0.02 0.015 0.0111821 0.0378 0.001 0.0058 0.0015 0.0112 0.05 NA 0.01 0.002 0.0247 0.05 0.01 D 0.232 B 0.229 B 0.001 N 1.000 D 1.59 L 1.42 T -1.000 T 0.028 T 0.559 3.156 16.56 4.65 2.236 2.732 11.341 3.156228 3.156228 0.02 0.030465 0.007717 ID=COSM1178430;OCCURENCE=1(prostate) NA NA 14.2403684 259 17 6524298 6524298 T A exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon7:c.A1125T:p.E375D exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000542606:exon5:c.A228T:p.E76D,ENSG00000198920:ENST00000572370:exon6:c.A228T:p.E76D,ENSG00000198920:ENST00000361413:exon7:c.A1125T:p.E375D Score=440;Name=lod=82 NA 17p13.1 NA NA NA NA rs9889363 0.31 0.31 0.291 0.307907 0.3489 0.3562 0.4006 0.1581 0.3528 0.34 0.31 0.43 0.17 0.3695 0.43 0.03 D 0.999 D 0.994 D 0.017 N 0.000 P 2.34 M -2.19 D -1.146 T 0.000 T 0.163 4.484 24 3.84 0.991 0.810 7.626 4.484199 4.484199 0.09 0.377206 0.202093 NA 0.261 NA 14.2377274 259 3 178968634 178968634 C T exonic KCNMB3 NA nonsynonymous SNV KCNMB3:NM_171830:exon1:c.G145A:p.A49T,KCNMB3:NM_001163677:exon2:c.G151A:p.A51T,KCNMB3:NM_014407:exon2:c.G157A:p.A53T,KCNMB3:NM_171828:exon2:c.G151A:p.A51T,KCNMB3:NM_171829:exon2:c.G91A:p.A31T exonic ENSG00000171121 NA nonsynonymous SNV ENSG00000171121:ENST00000392685:exon1:c.G145A:p.A49T,ENSG00000171121:ENST00000314235:exon2:c.G157A:p.A53T,ENSG00000171121:ENST00000349697:exon2:c.G151A:p.A51T,ENSG00000171121:ENST00000392686:exon2:c.G91A:p.A31T,ENSG00000171121:ENST00000485523:exon2:c.G91A:p.A31T,ENSG00000171121:ENST00000497599:exon2:c.G151A:p.A51T Score=466;Name=lod=104 NA 3q26.32 NA NA NA NA rs7645550 0.29 0.29 0.298 0.315296 0.3708 0.123 0.3127 0.416 0.3221 0.37 0.08 0.31 0.41 0.3456 0.41 0.17 T 1.0 D 0.996 D 0.000 D 0.004 P 2.34 M 2.89 T -0.920 T 0.000 T 0.247 3.544 18.08 6.08 2.894 4.589 18.157 3.544434 3.544434 0.01 0.38186 0.388107 ID=COSM149519;OCCURENCE=1(stomach) 0.319 NA 14.2350734 260 17 10348354 10348354 T C exonic MYH4 NA nonsynonymous SNV MYH4:NM_017533:exon37:c.A5405G:p.D1802G exonic ENSG00000264424 NA nonsynonymous SNV ENSG00000264424:ENST00000255381:exon37:c.A5405G:p.D1802G Score=542;Name=lod=212 NA 17p13.1 NA NA NA NA rs2277649 0.45 0.45 0.431 0.454872 0.3181 0.8214 0.4755 0.233 0.5031 0.31 0.83 0.45 0.22 0.4282 0.83 0 D 0.993 D 0.969 D 0.002 U 0.000 P 3.62 H -1.18 T -0.909 T 0.000 T 0.348 3.809 19.34 5.5 2.214 6.257 15.887 3.809062 3.809062 NA 0.354651 0.258057 NA 0.522 NA 14.2323824 261 3 39228676 39228676 T G exonic XIRP1 NA nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A2261C:p.Q754P,XIRP1:NM_194293:exon2:c.A2261C:p.Q754P exonic ENSG00000168334 NA nonsynonymous SNV ENSG00000168334:ENST00000340369:exon2:c.A2261C:p.Q754P,ENSG00000168334:ENST00000396251:exon2:c.A2261C:p.Q754P Score=346;Name=lod=34 NA 3p22.2 NA NA NA NA rs62244166 0.02 0.02 0.016 0.0201677 0.0507 0.001 0.0346 0.0045 0.0194 0.05 NA 0.04 0.0041 0.0316 0.05 0.11 T 0.997 D 0.942 D 0.001 N 1.000 D 2.08 M 3.71 T -1.178 T 0.007 T 0.364 1.685 11.59 4.11 1.873 0.168 6.303 1.685117 1.685117 0.05 0.044186 0.008852 NA 0.087 NA 14.2068474 262 11 124180282 124180282 A C exonic OR8D1 NA nonsynonymous SNV OR8D1:NM_001002917:exon1:c.T381G:p.C127W exonic ENSG00000196341 NA nonsynonymous SNV ENSG00000196341:ENST00000357821:exon1:c.T381G:p.C127W NA NA 11q24.2 Score=909;Name=V$TAL1BETAITF2_01 NA Name=5 NA rs7107539 0.32 0.32 0.282 0.267572 0.4066 0.4177 0.3372 0.0893 0.1616 0.39 0.42 0.36 0.07 0.3387 0.42 0.01 D 1.0 D 1.0 D 0.001 U 0.621 P 3.835 H 3.2 T -0.998 T 0.000 T 0.281 2.67 14.89 -3.22 -0.868 -1.117 14.372 2.67023 2.67023 0 0.393231 0.140618 NA 0.188 NA 14.1948024 262 13 102220193 102220193 G T exonic ITGBL1 NA nonsynonymous SNV ITGBL1:NM_001271754:exon2:c.G37T:p.A13S,ITGBL1:NM_001271756:exon2:c.G181T:p.A61S,ITGBL1:NM_004791:exon3:c.G460T:p.A154S exonic ENSG00000198542 NA nonsynonymous SNV ENSG00000198542:ENST00000376162:exon2:c.G181T:p.A61S,ENSG00000198542:ENST00000545560:exon2:c.G37T:p.A13S,ENSG00000198542:ENST00000376180:exon3:c.G460T:p.A154S Score=489;Name=lod=129 NA 13q33.1 Score=916;Name=V$AREB6_01 NA NA NA rs1140605 0.11 0.11 0.11 0.116014 0.0338 0.125 0.0692 0.2148 0.091 0.03 0.15 0.07 0.22 0.0698 0.22 0.03 D 0.165 B 0.056 B 0.000 N 0.000 P 0.915 L -2.58 D -0.998 T 0.001 T 0.106 2.719 15.05 4.58 1.417 3.744 14.133 2.718934 2.718934 0.07 0.043488 0.17635 NA 0.13 NA 14.1862454 262 10 102006625 102006625 G A exonic CWF19L1 NA nonsynonymous SNV CWF19L1:NM_018294:exon8:c.C776T:p.P259L exonic ENSG00000095485 NA nonsynonymous SNV ENSG00000095485:ENST00000370379:exon1:c.C41T:p.P14L,ENSG00000095485:ENST00000354105:exon8:c.C776T:p.P259L Score=626;Name=lod=467 NA 10q24.31 Score=941;Name=V$CETS1P54_01 NA NA NA rs7073610 0.07 0.07 0.059 0.0800719 0.0487 0.0615 0.0519 0.1233 0.093 0.05 0.07 0.06 0.1 0.0526 0.1 0.34 T 0.066 B 0.01 B 0.000 D 0.000 P 1.445 L 1.57 T -1.094 T 0.002 T 0.129 2.421 14.05 4.6 2.634 2.511 6.437 2.420734 2.420734 0.23 0.046279 0.095325 NA 0.051 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116860.2;CLNDSDB=.;CLNDSDBID=. 14.1857544 263 17 10355371 10355371 C T exonic MYH4 NA nonsynonymous SNV MYH4:NM_017533:exon27:c.G3625A:p.E1209K exonic ENSG00000264424 NA nonsynonymous SNV ENSG00000264424:ENST00000255381:exon27:c.G3625A:p.E1209K Score=612;Name=lod=409 NA 17p13.1 NA NA NA NA rs11651295 0.49 0.49 0.447 0.507987 0.334 0.8631 0.4841 0.3011 0.6176 0.34 0.87 0.47 0.3 0.4522 0.87 0 D 0.984 D 0.911 D 0.002 U 0.000 P 3.59 H -1.38 T -0.903 T 0.000 T 0.329 5.3 34 5.51 2.745 7.722 19.777 5.299995 5.299995 NA 0.363953 0.315706 NA 0.5 NA 14.1831804 263 1 205031116 205031116 C T exonic CNTN2 NA nonsynonymous SNV CNTN2:NM_005076:exon9:c.C1097T:p.P366L exonic ENSG00000184144 NA nonsynonymous SNV ENSG00000184144:ENST00000331830:exon9:c.C1097T:p.P366L Score=529;Name=lod=188 NA 1q32.1 Score=802;Name=V$ARP1_01 NA NA NA rs2229866 0.5 0.5 0.446 0.551118 0.339 0.876 0.5591 0.323 0.7372 0.33 0.87 0.5 0.31 0.4754 0.87 0.03 D 0.029 B 0.023 B 0.000 D 0.000 P 2.04 M -0.3 T -0.957 T 0.000 T 0.222 4.055 20.8 4.94 2.284 4.643 17.744 4.055142 4.055142 0.42 0.343612 0.336058 NA 0.377 NA 14.1753214 264 13 97484830 97484830 A G exonic HS6ST3 NA nonsynonymous SNV HS6ST3:NM_153456:exon2:c.A794G:p.K265R exonic ENSG00000185352 NA nonsynonymous SNV ENSG00000185352:ENST00000376705:exon2:c.A794G:p.K265R Score=574;Name=lod=288 NA 13q32.1 NA NA NA NA rs9516771 0.03 0.03 0.021 0.0377396 0.0487 0.0208 0.0375 0.0038 0.09 0.05 0.01 0.04 0.01 0.0568 0.058 0.1 T 0.433 B 0.103 B 0.000 D 1.000 D 2.205 M -0.9 T -0.746 T 0.065 T 0.323 4.345 22.9 5.7 2.157 9.335 15.962 4.345489 4.345489 0.08 0.057907 0.014072 NA 0.029 NA 14.1699264 264 7 128363287 128363287 G A exonic FAM71F1 NA nonsynonymous SNV FAM71F1:NM_032599:exon4:c.G724A:p.E242K exonic ENSG00000135248 NA nonsynonymous SNV ENSG00000135248:ENST00000466842:exon2:c.G292A:p.E98K,ENSG00000135248:ENST00000315184:exon4:c.G724A:p.E242K,ENSG00000135248:ENST00000471558:exon4:c.G724A:p.E242K,ENSG00000135248:ENST00000484425:exon5:c.G295A:p.E99K,ENSG00000135248:ENST00000485070:exon5:c.G427A:p.E143K Score=537;Name=lod=203 NA 7q32.1 NA NA NA NA rs6971091 0.15 0.15 0.156 0.159545 0.2336 0.1052 0.1628 0.0598 0.272 0.24 0.12 0.15 0.07 0.2039 0.24 0.2 T 0.998 D 0.892 P 0.001 D 0.026 P 2.095 M 2.87 T -1.144 T 0.000 T 0.22 3.748 19.03 5.2 2.868 4.046 14.431 3.748148 3.748148 0.05 0.229419 0.079664 NA 0.109 NA 14.1664144 265 16 3073240 3073240 G T exonic HCFC1R1 NA nonsynonymous SNV HCFC1R1:NM_001002017:exon2:c.C218A:p.P73Q,HCFC1R1:NM_017885:exon3:c.C275A:p.P92Q,HCFC1R1:NM_001002018:exon4:c.C275A:p.P92Q exonic ENSG00000103145 NA nonsynonymous SNV ENSG00000103145:ENST00000354679:exon2:c.C269A:p.P90Q,ENSG00000103145:ENST00000574151:exon2:c.C218A:p.P73Q,ENSG00000103145:ENST00000248089:exon3:c.C275A:p.P92Q,ENSG00000103145:ENST00000572355:exon3:c.C155A:p.P52Q,ENSG00000103145:ENST00000396916:exon4:c.C275A:p.P92Q,ENSG00000103145:ENST00000573842:exon4:c.C275A:p.P92Q,ENSG00000103145:ENST00000574980:exon4:c.C275A:p.P92Q Score=289;Name=lod=20 NA 16p13.3 Score=803;Name=V$ARP1_01 Name=Pol2-4H8,Pol2(phosphoS2),Pol2 Name=104 NA rs10508 0.17 0.17 0.141 0.189097 0.2356 0.1181 0.1916 0.1354 0.2853 0.23 0.1 0.21 0.11 0.224 0.23 0.09 T 0.571 P 0.183 B 0.667 N 0.013 P 0.55 N 0.91 T -1.048 T 0.000 T 0.269 1.228 9.981 3.14 1.172 2.458 7.493 1.228065 NA 0.13 0.229767 0.137853 ID=COSM1478796,COSM435123;OCCURENCE=1(breast) 0.232 NA 14.1439664 265 2 39088323 39088323 G A exonic DHX57 NA nonsynonymous SNV DHX57:NM_198963:exon5:c.C1229T:p.S410F exonic ENSG00000163214 NA nonsynonymous SNV ENSG00000163214:ENST00000457308:exon4:c.C923T:p.S308F,ENSG00000163214:ENST00000295373:exon5:c.C1229T:p.S410F Score=512;Name=lod=161 NA 2p22.1 NA NA NA NA rs11893062 0.03 0.03 0.024 0.0233626 0.0765 NA 0.0447 0.0045 0.0031 0.07 NA 0.04 0.01 0.0478 0.07 0.08 T 0.998 D 0.968 D 0.002 N 1.000 D 1.385 L 1.82 T -1.192 T 0.014 T 0.322 4.261 22.2 5.67 2.677 7.637 19.773 4.260554 4.260554 0 0.068488 0.013618 NA 0.036 NA 14.1405454 265 11 116655600 116655600 G A exonic ZNF259 NA nonsynonymous SNV ZNF259:NM_003904:exon8:c.C791T:p.A264V exonic ENSG00000109917 NA nonsynonymous SNV ENSG00000109917:ENST00000449430:exon4:c.C257T:p.A86V,ENSG00000109917:ENST00000227322:exon8:c.C791T:p.A264V Score=456;Name=lod=95 NA 11q23.3 Score=915;Name=V$CHOP_01 NA NA NA rs35120633 0.04 0.04 0.03 0.0467252 0.0666 NA 0.1153 0.0333 0.044 0.06 NA 0.09 0.03 0.0615 0.09 0.15 T 0.134 B 0.046 B 0.000 D 1.000 D 1.715 L 0.91 T -1.101 T 0.016 T 0.224 3.158 16.56 5.92 2.795 6.269 13.500 3.157904 3.157904 0.14 0.064711 0.029532 NA 0.036 NA 14.1405224 265 11 32955122 32955122 A G exonic QSER1 NA nonsynonymous SNV QSER1:NM_001076786:exon4:c.A1931G:p.Q644R exonic ENSG00000060749 NA nonsynonymous SNV ENSG00000060749:ENST00000399302:exon4:c.A1931G:p.Q644R,ENSG00000060749:ENST00000527788:exon5:c.A1214G:p.Q405R Score=395;Name=lod=54 NA 11p13 NA NA NA NA rs2297781 0.07 0.07 0.05 0.0788738 0.0577 0.0595 0.0778 0.0772 0.1237 0.06 0.07 0.07 0.07 0.0726 0.087 0.01 D 0.996 D 0.986 D 0.000 D 0.008 P 1.04 L 2.2 T -1.031 T 0.010 T 0.347 2.317 13.71 3.83 0.815 5.632 11.828 2.317458 2.317458 0 0.064496 0.072732 ID=COSM147173;OCCURENCE=1(stomach) 0.058 NA 14.1385374 265 19 44376937 44376937 G A exonic ZNF404 NA nonsynonymous SNV ZNF404:NM_001033719:exon2:c.C1420T:p.R474C exonic ENSG00000176222 NA nonsynonymous SNV ENSG00000176222:ENST00000324394:exon2:c.C1423T:p.R475C,ENSG00000176222:ENST00000587539:exon3:c.C1429T:p.R477C NA NA 19q13.31 NA Name=KAP1,SETDB1,p300_(N-15) Name=13 NA rs76311065 0.03 0.03 0.028 0.0223642 0.0805 0.001 0.0259 0.0045 0.0061 0.08 0.0017 0.02 0.0041 0.0495 0.08 0.05 D 0.999 D 0.918 D . . 1.000 N 1.36 L 3.19 T -1.071 T 0.002 T 0.446 0.023 4.133 -3.98 -0.530 -2.781 5.372 0.023005 NA 0.03 0.065489 0.009553 NA 0.007 NA 14.1378444 266 22 46643023 46643023 A C exonic CDPF1 NA nonsynonymous SNV CDPF1:NM_207327:exon3:c.T209G:p.L70R exonic ENSG00000205643 NA nonsynonymous SNV ENSG00000205643:ENST00000404583:exon2:c.T209G:p.L70R,ENSG00000205643:ENST00000404744:exon2:c.T209G:p.L70R,ENSG00000205643:ENST00000314567:exon3:c.T209G:p.L70R,ENSG00000205643:ENST00000381037:exon3:c.T209G:p.L70R Score=454;Name=lod=93 NA 22q13.31 Score=829;Name=V$AHRARNT_02 NA NA NA rs55641018 0.09 0.09 0.092 0.106629 0.0696 NA 0.0519 0.295 0.0389 0.06 NA 0.06 0.27 0.0709 0.27 0.46 T 0.998 D 0.944 D 0.051 N 0.940 P 1.175 L 0.93 T -1.020 T 0.000 T 0.461 0.733 7.895 4.28 1.998 1.072 5.964 0.733169 NA 0.58 0.06314 0.246482 NA 0.181 NA 14.1296934 266 12 30906358 30906358 G A exonic CAPRIN2 NA nonsynonymous SNV CAPRIN2:NM_001002259:exon1:c.C340T:p.P114S,CAPRIN2:NM_001206856:exon1:c.C340T:p.P114S,CAPRIN2:NM_023925:exon1:c.C340T:p.P114S,CAPRIN2:NM_032156:exon1:c.C340T:p.P114S exonic ENSG00000110888 NA nonsynonymous SNV ENSG00000110888:ENST00000251071:exon1:c.C340T:p.P114S,ENSG00000110888:ENST00000298892:exon1:c.C340T:p.P114S,ENSG00000110888:ENST00000395805:exon1:c.C340T:p.P114S,ENSG00000110888:ENST00000417045:exon1:c.C340T:p.P114S,ENSG00000110888:ENST00000454014:exon1:c.C340T:p.P114S,ENSG00000110888:ENST00000537108:exon2:c.C97T:p.P33S,ENSG00000110888:ENST00000540436:exon2:c.C97T:p.P33S,ENSG00000110888:ENST00000540584:exon2:c.C97T:p.P33S,ENSG00000110888:ENST00000542550:exon2:c.C97T:p.P33S Score=602;Name=lod=373 NA 12p11.21 NA Name=CTCF_(SC-5916),KAP1,CTCF_(C-20),SMC3_(ab9263),CTCF,Rad21 Name=126 NA rs17688567 0.04 0.04 0.029 0.0375399 0.0746 0.003 0.072 0.0045 0.0552 0.07 0.01 0.07 0.01 0.0559 0.073 0.17 T 0.136 B 0.05 B 0.008 N 1.000 D 0.145 N 1.88 T -1.054 T 0.003 T 0.202 1.895 12.29 4.29 2.520 2.359 10.657 1.894903 1.894903 0.06 0.073372 0.011575 NA 0.051 NA 14.1294614 266 6 18122506 18122506 G A exonic NHLRC1 NA nonsynonymous SNV NHLRC1:NM_198586:exon1:c.C332T:p.P111L exonic ENSG00000187566 NA nonsynonymous SNV ENSG00000187566:ENST00000340650:exon1:c.C332T:p.P111L NA NA 6p22.3 NA NA NA NA rs10949483 0.37 0.37 0.302 0.342851 0.3996 0.3869 0.4914 0.2042 0.3211 0.41 0.41 0.44 0.2 0.4211 0.44 0.19 T 0.164 B 0.04 B 0.001 D 0.930 P 1.87 L -4.18 D 0.499 D 0.769 D 0.16 2.814 15.37 5.23 2.418 1.492 17.581 2.813953 2.813953 0.02 0.385015 0.243062 NA 0.21 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117782.1|RCV000127205.1;CLNDSDB=.|.;CLNDSDBID=.|. 14.1276184 267 7 150554553 150554553 C T exonic ABP1 NA nonsynonymous SNV ABP1:NM_001091:exon2:c.C995T:p.S332F,ABP1:NM_001272072:exon2:c.C995T:p.S332F exonic ENSG00000002726 NA nonsynonymous SNV ENSG00000002726:ENST00000360937:exon2:c.C995T:p.S332F,ENSG00000002726:ENST00000416793:exon2:c.C995T:p.S332F,ENSG00000002726:ENST00000483043:exon3:c.C995T:p.S332F,ENSG00000002726:ENST00000467291:exon4:c.C995T:p.S332F,ENSG00000002726:ENST00000493429:exon4:c.C995T:p.S332F NA NA 7q36.1 NA NA NA NA rs1049742 0.06 0.06 0.042 0.053115 0.0785 0.002 0.0605 0.0877 0.0276 0.08 NA 0.07 0.09 0.0602 0.09 0.01 D 0.991 D 0.973 D 0.015 N 1.000 N 2.89 M 3.68 T -1.234 T 0.003 T 0.343 3.312 17.14 4.96 2.735 2.255 16.083 3.312468 3.312468 0 0.073755 0.086136 NA 0.174 NA 14.1208784 267 14 23504021 23504021 G A exonic PSMB5 NA nonsynonymous SNV PSMB5:NM_001144932:exon1:c.C70T:p.R24C,PSMB5:NM_002797:exon1:c.C70T:p.R24C exonic ENSG00000100804 NA nonsynonymous SNV ENSG00000100804:ENST00000334454:exon1:c.C70T:p.R24C,ENSG00000100804:ENST00000361611:exon1:c.C70T:p.R24C,ENSG00000100804:ENST00000460922:exon1:c.C70T:p.R24C,ENSG00000100804:ENST00000493471:exon1:c.C70T:p.R24C Score=461;Name=lod=100 NA 14q11.2 NA Name=Oct-2,TAF7_(SQ-8),YY1_(C-20),TR4,Pol2,Pol2(phosphoS2),POU2F2,TAF1,TBP,THAP1_(SC-98174),c-Myc,HEY1,NFKB,Sin3Ak-20,Pol2-4H8,KAP1,YY1,Pol2(b) Name=148 NA rs11543947 0.03 0.03 0.022 0.0359425 0.0626 0.001 0.0288 0.0234 0.0665 0.06 0.0017 0.03 0.02 0.0677 0.083 0.04 D 0.007 B 0.003 B 0.048 N 1.000 D 0.55 N 0.72 T -1.098 T 0.005 T 0.201 2.825 15.41 3.37 0.570 1.316 4.426 2.824549 2.824549 0.01 0.082674 0.038357 NA 0.007 NA 14.1203594 268 2 230861519 230861519 G T exonic FBXO36 NA nonsynonymous SNV FBXO36:NM_174899:exon3:c.G258T:p.L86F exonic ENSG00000153832 NA nonsynonymous SNV ENSG00000153832:ENST00000283946:exon3:c.G258T:p.L86F,ENSG00000153832:ENST00000373652:exon4:c.G165T:p.L55F Score=358;Name=lod=38 NA 2q36.3 Score=797;Name=V$OCT1_04 Name=MafK_(ab50322) NA NA rs1035834 0.21 0.21 0.186 0.179712 0.2654 0.1042 0.268 0.1959 0.0849 0.27 0.11 0.29 0.2 0.213 0.29 0.05 D 0.987 D 0.864 P 0.000 D 0.000 P 2.555 M 0.44 T -1.060 T 0.000 T 0.187 2.254 13.49 0.962 0.125 0.765 12.425 2.254163 2.254163 0.04 0.24 0.18906 ID=COSM149087;OCCURENCE=1(stomach) 0.13 NA 14.1149334 268 17 62496670 62496670 A C exonic DDX5 NA nonsynonymous SNV DDX5:NM_004396:exon12:c.T1438G:p.S480A exonic ENSG00000108654 NA nonsynonymous SNV ENSG00000108654:ENST00000450599:exon11:c.T1201G:p.S401A,ENSG00000108654:ENST00000225792:exon12:c.T1438G:p.S480A,ENSG00000108654:ENST00000578804:exon12:c.T1438G:p.S480A Score=625;Name=lod=464 NA 17q23.3 NA Name=Pol2-4H8,Pol2(b),Pol2 Name=15 NA rs1140409 0.04 0.04 0.04 0.0291534 0.0835 NA 0.0461 0.003 0.0266 0.09 NA 0.05 0.01 0.0644 0.09 0.47 T 0.024 B 0.01 B 0.010 N 0.943 D 0.895 L . . -1.097 T 0.006 T 0.147 0.094 4.506 4.64 1.096 4.358 7.547 0.093795 NA 0.67 0.071512 0.011575 NA 0.022 NA 14.1139214 269 20 21494184 21494184 C T exonic NKX2-2 NA nonsynonymous SNV NKX2-2:NM_002509:exon1:c.G124A:p.A42T exonic ENSG00000125820 NA nonsynonymous SNV ENSG00000125820:ENST00000377142:exon1:c.G124A:p.A42T Score=583;Name=lod=313 NA 20p11.22 Score=843;Name=V$YY1_02 Name=SUZ12 Name=9 NA rs8192562 0.04 0.04 0.023 0.0299521 0.0944 NA 0.0418 0.003 0.0225 0.08 NA 0.06 0.01 0.056 0.08 0.59 T 0.0 B 0.001 B 0.013 N 0.765 N -0.895 N -2.71 D -0.908 T 0.026 T 0.011 1.228 9.981 1.46 1.050 1.396 4.556 1.228068 NA 0.36 0.078953 0.014753 NA 0.014 NA 14.1039804 269 1 6705944 6705944 C T exonic DNAJC11 NA nonsynonymous SNV DNAJC11:NM_018198:exon8:c.G799A:p.V267M exonic ENSG00000007923 NA nonsynonymous SNV ENSG00000007923:ENST00000349363:exon7:c.G685A:p.V229M,ENSG00000007923:ENST00000377573:exon7:c.G529A:p.V177M,ENSG00000007923:ENST00000451196:exon7:c.G727A:p.V243M,ENSG00000007923:ENST00000294401:exon8:c.G799A:p.V267M,ENSG00000007923:ENST00000377577:exon8:c.G799A:p.V267M,ENSG00000007923:ENST00000426784:exon8:c.G889A:p.V297M,ENSG00000007923:ENST00000542246:exon8:c.G685A:p.V229M Score=502;Name=lod=146 NA 1p36.31 NA Name=ZNF263 NA NA rs12137794 0.04 0.04 0.022 0.0441294 0.0795 NA 0.1282 0.0038 0.0481 0.08 NA 0.07 0.0041 0.0692 0.082 0.42 T 0.222 B 0.019 B 0.000 D 0.996 D -0.345 N 2.53 T -0.999 T 0.002 T 0.218 2.073 12.89 4.25 2.472 5.648 3.838 2.072584 2.072584 0.32 0.082326 0.017022 NA 0.022 NA 14.1023074 270 10 29784072 29784072 G C exonic SVIL NA nonsynonymous SNV SVIL:NM_003174:exon17:c.C2425G:p.P809A,SVIL:NM_021738:exon19:c.C3703G:p.P1235A exonic ENSG00000197321 NA nonsynonymous SNV ENSG00000197321:ENST00000538146:exon2:c.C79G:p.P27A,ENSG00000197321:ENST00000535393:exon5:c.C445G:p.P149A,ENSG00000197321:ENST00000375400:exon17:c.C2425G:p.P809A,ENSG00000197321:ENST00000355867:exon19:c.C3703G:p.P1235A,ENSG00000197321:ENST00000375398:exon21:c.C3703G:p.P1235A Score=317;Name=lod=26 NA 10p11.23 NA NA NA NA rs2368406 0.64 0.64 0.655 NA NA NA NA NA NA 0.7 0.53 0.66 0.68 0.751 0.7 0.1 T 0.968 D 0.853 P 0.000 D 0.000 P 2.215 M 2.69 T -0.976 T 0.000 T 0.523 4.03 20.7 4.37 2.267 6.346 17.153 4.030226 4.030226 0.07 NA NA ID=COSM1599890;OCCURENCE=1(central_nervous_system) 0.725 NA 14.0823334 270 1 19635011 19635011 C T exonic AKR7A2 NA nonsynonymous SNV AKR7A2:NM_003689:exon2:c.G424A:p.A142T exonic ENSG00000053371 NA nonsynonymous SNV ENSG00000053371:ENST00000235835:exon2:c.G424A:p.A142T,ENSG00000053371:ENST00000330072:exon2:c.G394A:p.A132T NA NA 1p36.13 Score=853;Name=V$AHRARNT_01 NA NA NA rs1043657 0.05 0.05 0.047 0.0375399 0.0974 0.003 0.0605 0.0257 0.0112 0.1 NA 0.07 0.02 0.0639 0.1 0.02 D 0.999 D 0.952 D 0.000 D 1.000 P 2.02 M 3.66 T -1.098 T 0.001 T 0.331 1.272 10.15 0.911 0.384 2.267 5.664 1.272395 1.272395 0.01 0.093721 0.030867 NA 0.022 NA 14.0783124 270 2 98277090 98277090 T C exonic ACTR1B NA nonsynonymous SNV ACTR1B:NM_005735:exon3:c.A133G:p.M45V exonic ENSG00000115073 NA nonsynonymous SNV ENSG00000115073:ENST00000289228:exon3:c.A133G:p.M45V Score=579;Name=lod=302 NA 2q11.2 NA NA Name=5 NA rs79616802 0.12 0.12 0.131 0.133187 0.0885 0.0159 0.0965 0.3517 0.0307 0.09 0.02 0.11 0.3 0.0847 0.3 0.29 T 0.0 B 0.0 B 0.000 D 0.035 P -1.84 N -4.2 D -0.975 T 0.000 T 0.068 0.569 7.077 4.33 2.094 2.574 8.862 0.569383 NA 0.64 0.082558 0.288243 NA 0.13 NA 14.0775754 271 1 17593316 17593316 G A exonic PADI3 NA nonsynonymous SNV PADI3:NM_016233:exon5:c.G511A:p.V171M exonic ENSG00000142619 NA nonsynonymous SNV ENSG00000142619:ENST00000375460:exon5:c.G511A:p.V171M Score=395;Name=lod=54 NA 1p36.13 NA NA NA NA rs2272629 0.1 0.1 0.082 0.119808 0.0875 0.1508 0.1239 0.0287 0.2413 0.08 0.15 0.13 0.04 0.1009 0.15 0.11 T 0.999 D 0.921 D 0.008 N 0.481 P 2.12 M 2.01 T -1.094 T 0.001 T 0.133 1.701 11.65 3.94 1.176 1.770 9.398 1.701419 1.701419 0.1 0.08 0.033364 NA 0.087 NA 14.0649334 271 15 52903772 52903772 T C exonic FAM214A NA nonsynonymous SNV FAM214A:NM_019600:exon4:c.A404G:p.Q135R exonic ENSG00000047346 NA nonsynonymous SNV ENSG00000047346:ENST00000399202:exon3:c.A140G:p.Q47R,ENSG00000047346:ENST00000546305:exon3:c.A425G:p.Q142R,ENSG00000047346:ENST00000261844:exon4:c.A404G:p.Q135R,ENSG00000047346:ENST00000534964:exon4:c.A404G:p.Q135R,ENSG00000047346:ENST00000562135:exon4:c.A404G:p.Q135R Score=562;Name=lod=256 NA 15q21.3 NA NA NA NA rs8036680 0.07 0.07 0.074 0.0780751 0.0865 0.001 0.0706 0.1377 0.0736 0.09 NA 0.09 0.13 0.0889 0.13 . . 0.999 D 0.995 D 0.000 D 0.000 P 1.155 L 1.42 T -1.186 T 0.002 T 0.775 4.958 28.9 6.16 2.367 5.981 16.806 4.958215 4.958215 0.1 0.098097 0.125948 NA 0.08 NA 14.0598364 271 1 118565953 118565953 G A exonic SPAG17 NA nonsynonymous SNV SPAG17:NM_206996:exon28:c.C4043T:p.P1348L exonic ENSG00000155761 NA nonsynonymous SNV ENSG00000155761:ENST00000336338:exon28:c.C4043T:p.P1348L NA NA 1p12 NA Name=Rad21,CTCF NA NA rs10923472 0.29 0.29 0.249 0.28734 0.4314 0.1567 0.4107 0.1551 0.365 0.44 0.12 0.43 0.15 0.3948 0.45 0.01 D 1.0 D 0.998 D 0.030 N 0.226 P 2.045 M 2.07 T -1.040 T 0.099 T 0.248 3.567 18.18 5.63 2.669 2.084 15.189 3.566922 3.566922 0 0.448488 0.203586 NA 0.377 NA 14.0586454 272 1 9009451 9009451 G C exonic CA6 NA nonsynonymous SNV CA6:NM_001215:exon2:c.G209C:p.G70A,CA6:NM_001270500:exon2:c.G209C:p.G70A exonic ENSG00000131686 NA nonsynonymous SNV ENSG00000131686:ENST00000319474:exon2:c.G209C:p.G70A,ENSG00000131686:ENST00000377436:exon2:c.G209C:p.G70A,ENSG00000131686:ENST00000377443:exon2:c.G209C:p.G70A,ENSG00000131686:ENST00000480186:exon2:c.G209C:p.G70A Score=289;Name=lod=20 NA 1p36.23 NA NA NA NA rs2274329 0.09 0.09 0.077 0.0946486 0.1054 0.1647 0.0461 0.0053 0.1667 0.11 0.17 0.05 0.01 0.0924 0.17 . . 1.0 D 0.987 D 0.009 N 0.000 P 2.24 M 0.57 T -0.965 T 0.002 T 0.174 3.472 17.77 3.39 1.348 4.333 8.018 3.471661 3.471661 0 0.095349 0.020881 NA 0.072 NA 14.0401844 272 6 31112484 31112484 C T exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon15:c.G2039A:p.R680Q,CCHCR1:NM_001105564:exon15:c.G2147A:p.R716Q,CCHCR1:NM_019052:exon15:c.G1880A:p.R627Q exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000396263:exon13:c.G1721A:p.R574Q,ENSG00000204536:ENST00000376266:exon15:c.G1880A:p.R627Q,ENSG00000204536:ENST00000396268:exon15:c.G2147A:p.R716Q,ENSG00000204536:ENST00000451521:exon15:c.G2039A:p.R680Q Score=381;Name=lod=47 NA 6p21.33 NA NA NA NA rs130072 0.09 0.09 0.074 0.0784744 0.1123 0.0347 0.1369 0.0567 0.0767 0.12 0.04 0.15 0.05 0.099 0.15 0.22 T 1.0 D 0.998 D 0.005 N 0.390 P 2.28 M 3.26 T -1.099 T 0.034 T 0.368 4.346 22.9 4.2 1.144 2.178 9.343 4.346238 4.346238 0 0.086744 0.053109 NA 0.043 NA 14.0352894 273 12 58015494 58015494 G A exonic SLC26A10 NA nonsynonymous SNV SLC26A10:NM_133489:exon4:c.G577A:p.A193T exonic ENSG00000135502 NA nonsynonymous SNV ENSG00000135502:ENST00000320442:exon4:c.G577A:p.A193T,ENSG00000135502:ENST00000379218:exon4:c.G577A:p.A193T,ENSG00000135502:ENST00000474359:exon5:c.G799A:p.A267T Score=435;Name=lod=78 NA 12q13.3 NA Name=CTCF,E2F6,Pol2,HMGN3 Name=85 NA rs923828 0.29 0.29 0.275 0.265176 0.4374 0.2778 0.3242 0.1399 0.2025 0.41 0.21 0.37 0.14 0.4373 0.43 0.25 T 0.734 P 0.501 P . . 0.737 P 0.975 L -2.99 D -1.169 T 0.000 T 0.195 3.441 17.65 3.89 2.197 4.390 11.585 3.441194 3.441194 0.45 0.434008 0.186078 NA 0.29 NA 14.0246254 273 12 56494998 56494998 A T exonic ERBB3 NA nonsynonymous SNV ERBB3:NM_001982:exon27:c.A3355T:p.S1119C exonic ENSG00000065361 NA nonsynonymous SNV ENSG00000065361:ENST00000549832:exon5:c.A715T:p.S239C,ENSG00000065361:ENST00000553131:exon10:c.A1078T:p.S360C,ENSG00000065361:ENST00000550070:exon12:c.A1276T:p.S426C,ENSG00000065361:ENST00000450146:exon14:c.A1426T:p.S476C,ENSG00000065361:ENST00000267101:exon27:c.A3355T:p.S1119C,ENSG00000065361:ENST00000415288:exon28:c.A3178T:p.S1060C Score=432;Name=lod=76 NA 12q13.2 NA NA NA NA rs773123 0.06 0.06 0.058 0.0664936 0.1123 0.002 0.0663 0.0787 0.0695 0.11 0.0017 0.07 0.05 0.0908 0.11 0.07 T 1.0 D 0.998 D 0.000 D 0.000 P 0 N -1.06 T -0.609 T 0.018 T 0.715 4.127 21.3 5.87 2.371 6.234 14.096 4.12679 4.12679 0.01 0.106512 0.087154 NA 0.101 NA 14.0237214 273 1 89479063 89479063 G A exonic GBP3 NA nonsynonymous SNV GBP3:NM_018284:exon6:c.C673T:p.R225W exonic ENSG00000117226 NA nonsynonymous SNV ENSG00000117226:ENST00000370481:exon6:c.C673T:p.R225W,ENSG00000117226:ENST00000489444:exon6:c.C673T:p.R225W Score=391;Name=lod=52 NA 1p22.2 NA NA NA NA rs4656077 0.32 0.32 0.288 0.333666 0.4404 0.3075 0.2925 0.1793 0.4888 0.45 0.28 0.34 0.16 0.4172 0.45 . . 1.0 D 0.99 D 0.006 N 1.000 P 3.63 H -1.13 T 0.418 D 0.631 D 0.176 3.3 17.09 2.92 0.940 2.438 10.834 3.299634 3.299634 0.01 0.453721 0.261008 NA 0.246 NA 14.0220124 273 16 53481010 53481010 A G exonic RBL2 NA nonsynonymous SNV RBL2:NM_005611:exon4:c.A629G:p.Y210C exonic ENSG00000103479 NA nonsynonymous SNV ENSG00000103479:ENST00000262133:exon4:c.A629G:p.Y210C,ENSG00000103479:ENST00000544405:exon4:c.A407G:p.Y136C,ENSG00000103479:ENST00000567964:exon4:c.A236G:p.Y79C Score=590;Name=lod=332 NA 16q12.2 Score=819;Name=V$OCT1_04 NA NA NA rs17800727 0.14 0.14 0.127 0.108027 0.2883 0.001 0.2075 0.0189 0.0828 0.28 0.0017 0.22 0.03 0.2157 0.31 0.19 T 0.997 D 0.87 P 0.000 D 0.000 P 0.16 N -0.71 T -1.058 T 0.000 T 0.603 3.289 17.05 5.38 2.047 5.903 15.388 3.289226 3.289226 0.15 0.307791 0.053027 NA 0.21 NA 14.0215424 273 21 32253513 32253513 A T exonic KRTAP11-1 NA nonsynonymous SNV KRTAP11-1:NM_175858:exon1:c.T331A:p.C111S exonic ENSG00000182591 NA nonsynonymous SNV ENSG00000182591:ENST00000332378:exon1:c.T331A:p.C111S Score=349;Name=lod=35 NA 21q22.11 NA NA NA NA rs9636845 0.18 0.18 0.161 0.17492 0.0885 0.4663 0.2032 0.0045 0.1738 0.09 0.43 0.2 0.01 0.1356 0.43 0.08 T 1.0 D 0.999 D 0.013 N 0.002 P 2.445 M 3.61 T -0.877 T 0.000 T 0.316 2.992 15.98 5.4 2.197 4.106 13.723 2.992318 2.992318 NA 0.08907 0.02542 NA 0.254 NA 14.0201634 273 13 23907909 23907909 A G exonic SACS NA nonsynonymous SNV SACS:NM_014363:exon10:c.T10106C:p.V3369A exonic ENSG00000151835 NA nonsynonymous SNV ENSG00000151835:ENST00000402364:exon8:c.T7856C:p.V2619A,ENSG00000151835:ENST00000382292:exon9:c.T10106C:p.V3369A,ENSG00000151835:ENST00000382298:exon10:c.T10106C:p.V3369A Score=462;Name=lod=101 NA 13q12.12 NA NA NA NA rs17078605 0.27 0.27 0.22 0.258986 0.2783 0.3145 0.3617 0.0552 0.3845 0.28 0.36 0.36 0.07 0.2778 0.36 0.12 T 0.745 P 0.251 B 0.000 D 0.062 P 0.55 N -2.19 D -1.113 T 0.000 T 0.267 3.1 16.35 5.94 2.279 9.339 16.398 3.099588 3.099588 0.02 0.26006 0.096232 NA 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118228.2;CLNDSDB=.;CLNDSDBID=. 14.0171734 273 14 39650924 39650924 A G exonic PNN NA nonsynonymous SNV PNN:NM_002687:exon9:c.A2011G:p.S671G exonic ENSG00000100941 NA nonsynonymous SNV ENSG00000100941:ENST00000216832:exon9:c.A2011G:p.S671G Score=733;Name=lod=1267 NA 14q21.1 NA Name=HEY1,Pol2(b) NA NA rs13021 0.15 0.15 0.151 0.125998 0.1024 0.3145 0.0591 0.0696 0.0798 0.11 0.34 0.07 0.07 0.1066 0.34 0.08 T 0.924 P 0.827 P 0.000 D 0.000 P 0.425 N 2.53 T -0.902 T 0.000 T 0.213 1.518 11.03 4.74 2.364 5.380 10.986 1.518375 1.518375 0.04 0.109302 0.075579 NA 0.043 NA 14.0150314 274 12 129559421 129559421 C T exonic TMEM132D NA nonsynonymous SNV TMEM132D:NM_133448:exon9:c.G2299A:p.V767I exonic ENSG00000151952 NA nonsynonymous SNV ENSG00000151952:ENST00000389441:exon4:c.G913A:p.V305I,ENSG00000151952:ENST00000422113:exon9:c.G2299A:p.V767I Score=460;Name=lod=99 NA 12q24.33 Score=794;Name=V$ER_Q6 NA NA NA rs73159540 0.09 0.09 0.08 0.0826677 0.1173 0.1161 0.0778 0.0045 0.1217 0.12 0.11 0.09 0.01 0.0975 0.12 . . 0.936 P 0.797 P 0.000 D 0.000 P 0.48 N 2.54 T -0.972 T 0.001 T 0.115 1.066 9.353 4.2 2.033 2.480 16.884 1.066018 NA 0.53 0.107791 0.019973 NA 0.087 NA 14.0107424 275 14 96730313 96730313 G A exonic BDKRB1 NA stopgain BDKRB1:NM_000710:exon3:c.G294A:p.W98X exonic ENSG00000100739 NA stopgain ENSG00000100739:ENST00000216629:exon3:c.G294A:p.W98X,ENSG00000100739:ENST00000553356:exon3:c.G294A:p.W98X NA NA 14q32.2 Score=837;Name=V$GRE_C Name=HA-E2F1,c-Myc Name=4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1 T . . . . 0.784 U 1.000 A . . . . . . . . . 4.949 28.8 3.49 0.616 -0.154 6.591 4.948566 4.948566 0.57 NA NA NA NA NA 14 275 1 145606274 145606274 C T splicing POLR3C NM_006468:exon6:c.678+1G>A NA NA splicing ENSG00000186141 ENST00000334163:exon6:c.678+1G>A,ENST00000369294:exon6:c.678+1G>A NA NA Score=355;Name=lod=37 NA 1q21.1 NA Name=GATA-1 Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005772 NA . . . . . . . . 1.000 D . . . . . . . . . 3.79 19.24 4.96 1.485 4.254 10.815 3.79044 3.79044 NA NA NA NA NA NA 13.9999423 275 9 108366734 108366734 G A exonic FKTN NA nonsynonymous SNV FKTN:NM_006731:exon5:c.G608A:p.R203Q,FKTN:NM_001079802:exon6:c.G608A:p.R203Q,FKTN:NM_001198963:exon6:c.G608A:p.R203Q exonic ENSG00000106692 NA nonsynonymous SNV ENSG00000106692:ENST00000357998:exon4:c.G608A:p.R203Q,ENSG00000106692:ENST00000223528:exon5:c.G608A:p.R203Q,ENSG00000106692:ENST00000374705:exon5:c.G539A:p.R180Q,ENSG00000106692:ENST00000540160:exon5:c.G608A:p.R203Q,ENSG00000106692:ENST00000448551:exon6:c.G608A:p.R203Q,ENSG00000106692:ENST00000602661:exon6:c.G608A:p.R203Q Score=575;Name=lod=289 NA 9q31.2 NA NA NA NA rs34787999 0.2 0.2 0.178 0.158147 0.2724 0.0913 0.2205 0.1339 0.0982 0.29 0.1 0.24 0.13 0.2446 0.32 0.16 T 0.947 P 0.197 B 0.003 N 0.078 P 2.075 M -1.61 D -1.150 T 0.000 T 0.114 3.357 17.31 5.36 2.496 4.399 11.545 3.356859 3.356859 0.05 0.318953 0.15842 NA 0.123 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079437.3;CLNDSDB=.;CLNDSDBID=. 13.9973804 275 13 52676275 52676275 T G exonic NEK5 NA nonsynonymous SNV NEK5:NM_199289:exon10:c.A763C:p.K255Q exonic ENSG00000197168 NA nonsynonymous SNV ENSG00000197168:ENST00000465811:exon8:c.A763C:p.K255Q,ENSG00000197168:ENST00000355568:exon10:c.A763C:p.K255Q Score=478;Name=lod=117 NA 13q14.3 NA NA NA NA rs34756139 0.09 0.09 0.075 0.0720847 0.1173 0.0546 0.1167 0.0197 0.0828 0.13 0.06 0.13 0.03 0.1068 0.13 0.31 T 0.995 D 0.92 D 0.000 D 0.235 P 0.495 N -0.19 T -1.010 T 0.004 T 0.257 2.391 13.95 4.81 1.093 3.451 11.992 2.391323 2.391323 0.04 0.113953 0.039492 ID=COSM147693;OCCURENCE=1(stomach) 0.022 NA 13.9952804 276 10 115352005 115352005 A G exonic NRAP NA nonsynonymous SNV NRAP:NM_006175:exon38:c.T4487C:p.L1496P,NRAP:NM_001261463:exon39:c.T4592C:p.L1531P,NRAP:NM_198060:exon39:c.T4592C:p.L1531P exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000360478:exon38:c.T4487C:p.L1496P,ENSG00000197893:ENST00000369360:exon38:c.T4511C:p.L1504P,ENSG00000197893:ENST00000359988:exon39:c.T4592C:p.L1531P,ENSG00000197893:ENST00000369358:exon39:c.T4616C:p.L1539P Score=502;Name=lod=146 NA 10q25.3 NA NA NA NA rs11196389 0.09 0.09 0.063 0.0876597 0.1193 0.1062 0.0735 0.0439 0.1053 0.11 0.11 0.07 0.04 0.1039 0.12 0.37 T 0.998 D 0.982 D 0.000 D 0.000 P 1.565 L 2.29 T -1.160 T 0.002 T 0.792 3.396 17.47 5.67 2.288 7.076 16.204 3.396449 3.396449 0.05 0.122326 0.052882 NA 0.043 NA 13.9878074 276 17 5366947 5366947 G A exonic DHX33 NA nonsynonymous SNV DHX33:NM_020162:exon2:c.C352T:p.R118C exonic ENSG00000005100 NA nonsynonymous SNV ENSG00000005100:ENST00000225296:exon2:c.C352T:p.R118C Score=563;Name=lod=259 NA 17p13.2 NA NA NA NA rs8069315 0.11 0.11 0.116 0.108227 0.1233 0.0228 0.0677 0.233 0.0409 0.13 0.02 0.09 0.22 0.1086 0.22 0.01 D 0.136 B 0.032 B 0.000 D 0.000 P 2.55 M 3.16 T -1.044 T 0.000 T 0.311 4.826 27.4 5.04 2.340 4.532 17.368 4.825669 4.825669 0.03 0.114186 0.205175 NA 0.109 NA 13.9872474 276 10 96702047 96702047 C T exonic CYP2C9 NA nonsynonymous SNV CYP2C9:NM_000771:exon3:c.C430T:p.R144C exonic ENSG00000138109 NA nonsynonymous SNV ENSG00000138109:ENST00000260682:exon3:c.C430T:p.R144C Score=532;Name=lod=194 Name=Warfarin maintenance dose 10q23.33 NA NA NA NA rs1799853 0.07 0.07 0.045 0.0479233 0.1243 0.001 0.0994 0.0083 0.0348 0.12 0.0035 0.12 0.02 0.0914 0.13 0.01 D 1.0 D 0.995 D 0.000 U 0.002 P 2.275 M -0.44 T -0.866 T 0.007 T 0.648 3.015 16.06 1.42 0.194 -0.307 5.909 3.014845 3.014845 0.03 0.130789 0.026782 NA 0.094 CLINSIG=other;CLNDBN=Warfarin_response;CLNREVSTAT=single;CLNACC=RCV000008920.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN078029:122700 13.9868444 276 4 107845794 107845794 C T exonic DKK2 NA nonsynonymous SNV DKK2:NM_014421:exon3:c.G437A:p.R146Q exonic ENSG00000155011 NA nonsynonymous SNV ENSG00000155011:ENST00000285311:exon3:c.G437A:p.R146Q,ENSG00000155011:ENST00000513208:exon4:c.G137A:p.R46Q,ENSG00000155011:ENST00000510463:exon5:c.G299A:p.R100Q Score=550;Name=lod=230 NA 4q25 NA NA NA NA rs17037102 0.17 0.17 0.15 0.165535 0.1083 0.3859 0.3069 0.0053 0.1135 0.13 0.34 0.24 0.01 0.1365 0.34 0.1 T 1.0 D 0.992 D 0.000 D 0.051 P 0.895 L 0.94 T -1.041 T 0.000 T 0.391 3.264 16.95 5.75 2.717 2.645 19.946 3.263558 3.263558 0.41 0.102442 0.032002 ID=COSM149724;OCCURENCE=1(stomach),2(prostate) 0.087 NA 13.9860914 276 16 81241100 81241100 G C exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon5:c.C901G:p.P301A exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon5:c.C901G:p.P301A,ENSG00000269323:ENST00000599697:exon5:c.C901G:p.P301A Score=410;Name=lod=62 NA 16q23.2 NA NA NA NA rs11150370 0.51 0.51 0.457 0.473642 0.4384 0.8661 0.4784 0.177 0.5031 0.46 0.84 0.48 0.22 0.482 0.84 0.03 D 1.0 D 0.977 D 0.000 D 0.000 P . . -0.2 T -0.975 T 0.000 T 0.351 2.742 15.13 4.93 2.277 6.049 18.154 2.741991 2.741991 0 0.427427 0.207368 NA NA NA 13.9855064 277 2 10930903 10930903 T C exonic PDIA6 NA nonsynonymous SNV PDIA6:NM_005742:exon7:c.A641G:p.K214R exonic ENSG00000143870 NA nonsynonymous SNV ENSG00000143870:ENST00000272227:exon7:c.A641G:p.K214R,ENSG00000143870:ENST00000381611:exon8:c.A656G:p.K219R,ENSG00000143870:ENST00000404824:exon8:c.A785G:p.K262R,ENSG00000143870:ENST00000540494:exon8:c.A632G:p.K211R,ENSG00000143870:ENST00000404371:exon9:c.A797G:p.K266R Score=429;Name=lod=74 NA 2p25.1 Score=926;Name=V$ISRE_01 Name=MEF2A Name=8 NA rs4807 0.27 0.27 0.224 0.28135 0.2654 0.3948 0.3372 0.1059 0.3783 0.27 0.35 0.36 0.12 0.298 0.36 0.06 T 0.049 B 0.469 P 0.000 N 0.000 P 1.215 L 3.9 T -0.867 T 0.000 T 0.289 3.381 17.41 4.56 1.016 5.144 11.426 3.381466 3.381466 0.04 0.285233 0.124149 ID=COSM1398675;OCCURENCE=1(large_intestine) 0.232 NA 13.9847004 277 2 179432185 179432185 A G exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon154:c.T51479C:p.I17160T,TTN:NM_133432:exon155:c.T51854C:p.I17285T,TTN:NM_133437:exon155:c.T52055C:p.I17352T,TTN:NM_133378:exon275:c.T70970C:p.I23657T,TTN:NM_001256850:exon276:c.T73751C:p.I24584T,TTN:NM_001267550:exon326:c.T78674C:p.I26225T exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000460472:exon154:c.T51479C:p.I17160T,ENSG00000155657:ENST00000342175:exon155:c.T52055C:p.I17352T,ENSG00000155657:ENST00000359218:exon155:c.T51854C:p.I17285T,ENSG00000155657:ENST00000342992:exon275:c.T70970C:p.I23657T,ENSG00000155657:ENST00000591111:exon276:c.T73751C:p.I24584T,ENSG00000155657:ENST00000589042:exon326:c.T78674C:p.I26225T Score=609;Name=lod=398 NA 2q31.2 NA NA NA NA rs12463674 0.15 0.15 0.143 0.129992 0.3091 0.0427 0.1124 0.0053 0.2168 0.32 0.04 0.15 0.01 0.2368 0.32 0 D 0.801 P 0.192 B . . 0.000 P 2.34 M -0.64 T -1.099 T 0.000 T 0.626 2.876 15.58 5.65 2.140 5.989 15.874 2.875811 2.875811 NA 0.302956 0.054348 NA 0.174 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040637.3|RCV000125894.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.9844774 277 22 50297888 50297888 T C exonic ALG12 NA nonsynonymous SNV ALG12:NM_024105:exon9:c.A1177G:p.I393V exonic ENSG00000182858 NA nonsynonymous SNV ENSG00000182858:ENST00000330817:exon9:c.A1177G:p.I393V Score=358;Name=lod=38 NA 22q13.33 NA NA NA NA rs3922872 0.09 0.09 0.079 0.0916534 0.1243 0.0565 0.0821 0.0386 0.1728 0.13 0.06 0.1 0.04 0.1122 0.13 0.17 T 0.999 D 0.998 D 0.000 D 0.000 P 1.655 L 0.5 T -1.009 T 0.004 T 0.13 2.725 15.07 4.27 0.855 4.972 11.073 2.724709 2.724709 0 0.114767 0.04562 NA 0.174 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082161.1;CLNDSDB=.;CLNDSDBID=. 13.9820664 277 4 103964529 103964529 A C exonic SLC9B2 NA nonsynonymous SNV SLC9B2:NM_178833:exon9:c.T1070G:p.F357C exonic ENSG00000164038 NA nonsynonymous SNV ENSG00000164038:ENST00000506288:exon6:c.T770G:p.F257C,ENSG00000164038:ENST00000503103:exon8:c.T899G:p.F300C,ENSG00000164038:ENST00000503230:exon8:c.T899G:p.F300C,ENSG00000164038:ENST00000339611:exon9:c.T1070G:p.F357C,ENSG00000164038:ENST00000362026:exon9:c.T1070G:p.F357C,ENSG00000164038:ENST00000394785:exon9:c.T1070G:p.F357C Score=412;Name=lod=63 NA 4q24 NA NA NA NA rs2276976 0.12 0.12 0.106 0.14357 0.1064 0.1806 0.1628 0.062 0.2403 0.1 0.16 0.16 0.08 0.1313 0.16 0.18 T 0.995 D 0.911 D 0.066 N 0.004 P 2.135 M 2.33 T -1.187 T 0.001 T 0.45 2.917 15.72 5.93 2.270 6.434 16.387 2.917232 2.917232 0.07 0.115814 0.059918 NA 0.123 NA 13.9798194 277 3 12393125 12393125 C G exonic PPARG NA nonsynonymous SNV PPARG:NM_015869:exon1:c.C34G:p.P12A exonic ENSG00000132170 NA nonsynonymous SNV ENSG00000132170:ENST00000287820:exon1:c.C34G:p.P12A,ENSG00000132170:ENST00000397023:exon1:c.C34G:p.P12A Score=300;Name=lod=22 Name=Type 2 diabetes,Fasting insulin-related traits (interaction with BMI) 3p25.2 Score=843;Name=V$RORA2_01 NA NA NA rs1801282 0.07 0.07 0.054 0.0702875 0.1203 0.0258 0.1167 0.0053 0.1196 0.12 0.04 0.07 0.01 0.1101 0.12 0.02 D 0.0 B 0.0 B 0.541 N 0.000 P 0.695 N -2.99 D -0.726 T 0.019 T 0.154 2.182 13.25 2.93 0.859 0.376 5.341 2.181534 2.181534 0 0.123605 0.026101 NA 0.051 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118044.2;CLNDSDB=.;CLNDSDBID=. 13.9793284 278 5 7897191 7897191 C T exonic MTRR NA nonsynonymous SNV MTRR:NM_002454:exon14:c.C1783T:p.H595Y,MTRR:NM_024010:exon14:c.C1864T:p.H622Y exonic ENSG00000124275 NA nonsynonymous SNV ENSG00000124275:ENST00000264668:exon14:c.C1864T:p.H622Y,ENSG00000124275:ENST00000440940:exon14:c.C1783T:p.H595Y NA NA 5p15.31 Score=682;Name=V$P53_01 Name=CTCF,YY1_(C-20) NA NA rs10380 0.19 0.19 0.18 0.219449 0.1103 0.1399 0.3199 0.3684 0.1411 0.1 0.15 0.26 0.32 0.1509 0.32 0.04 D 0.001 B 0.004 B 0.438 N 0.965 P 2.02 M -2.14 D -1.095 T 0.000 T 0.051 -2.516 0.003 4.53 1.264 0.532 11.123 -2.516189 NA 0.15 0.097791 0.320018 NA 0.283 NA 13.9743424 278 3 49721532 49721532 G A exonic MST1 NA nonsynonymous SNV MST1:NM_020998:exon18:c.C2107T:p.R703C exonic ENSG00000173531 NA nonsynonymous SNV ENSG00000173531:ENST00000449682:exon18:c.C2107T:p.R703C NA Name=Ulcerative colitis,Inflammatory bowel disease,Crohn's disease,Primary sclerosing cholangitis 3p21.31 Score=761;Name=V$PAX5_02 NA NA NA rs3197999 0.22 0.22 0.203 0.191893 0.3131 0.0565 0.1686 0.2179 0.1881 0.31 0.06 0.22 0.24 0.2557 0.31 0.02 D 0.727 P 0.338 B 0.290 N 0.998 P 2.26 M -2.48 D -1.025 T 0.000 T 0.381 3.327 17.19 -2.82 -0.545 1.075 12.694 3.327308 3.327308 0.03 0.293605 0.235134 ID=COSM149393;OCCURENCE=1(stomach) 0.109 NA 13.9709284 279 16 70164334 70164334 A G exonic PDPR NA nonsynonymous SNV PDPR:NM_017990:exon7:c.A616G:p.I206V exonic ENSG00000090857 NA nonsynonymous SNV ENSG00000090857:ENST00000398122:exon5:c.A316G:p.I106V,ENSG00000090857:ENST00000565186:exon5:c.A616G:p.I206V,ENSG00000090857:ENST00000288050:exon7:c.A616G:p.I206V,ENSG00000090857:ENST00000568530:exon7:c.A616G:p.I206V Score=500;Name=lod=143 NA 16q22.1 NA NA NA NA rs10852462 0.33 0.33 0.313 NA NA NA NA NA NA 0.4 0.23 0.32 0.37 0.4008 0.4 0.37 T 0.071 B 0.074 B 0.000 D 1.000 D 0.12 N -1.51 D -1.042 T 0.000 T 0.122 1.707 11.67 4.93 1.843 5.916 8.479 1.706647 1.706647 0.42 NA NA ID=COSM148098;OCCURENCE=1(stomach) 0.167 NA 13.9325334 279 8 101719138 101719138 C T exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon10:c.G1424A:p.R475Q exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000522658:exon1:c.G65A:p.R22Q,ENSG00000070756:ENST00000318607:exon10:c.G1424A:p.R475Q,ENSG00000070756:ENST00000519004:exon11:c.G1289A:p.R430Q,ENSG00000070756:ENST00000522387:exon11:c.G1328A:p.R443Q Score=668;Name=lod=693 NA 8q22.3 Score=876;Name=V$MYCMAX_02 NA Name=2 NA rs79940439 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA 0.4025 NA 0.53 T 0.032 B 0.004 B 0.003 N 1.000 D 0.86 L 2.73 T -1.063 T 0.088 T 0.852 4.677 25.8 5.63 2.816 7.212 20.034 4.676811 4.676811 0.15 NA NA NA NA NA 13.9308334 280 19 6312290 6312290 T C exonic ACER1 NA nonsynonymous SNV ACER1:NM_133492:exon3:c.A220G:p.M74V exonic ENSG00000167769 NA nonsynonymous SNV ENSG00000167769:ENST00000301452:exon3:c.A220G:p.M74V Score=576;Name=lod=291 NA 19p13.3 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=4 NA rs72981971 0.17 0.17 0.141 0.159944 0.1332 0.3194 0.1354 0.0113 0.2413 0.14 0.38 0.14 0.02 0.158 0.38 0.81 T 0.01 B 0.018 B 0.001 D 0.242 P 0.455 N 1.01 T -0.937 T 0.000 T 0.104 -0.541 1.543 2.4 1.884 1.588 3.792 -0.541318 NA 1 0.125349 0.036314 NA 0.152 NA 13.9167844 280 14 100795139 100795139 G T exonic SLC25A47 NA nonsynonymous SNV SLC25A47:NM_207117:exon5:c.G404T:p.R135L exonic ENSG00000140107 NA nonsynonymous SNV ENSG00000140107:ENST00000361529:exon5:c.G404T:p.R135L NA NA 14q32.2 Score=771;Name=V$HEN1_02 Name=HNF4A_(H-171),HEY1,TBP,TAF1,HNF4A,Pol2,HNF4G_(SC-6558) Name=4 NA rs35007880 0.28 0.28 0.252 0.327276 0.492 0.2262 0.3127 0.0424 0.6575 0.48 0.18 0.33 0.05 0.4446 0.48 0.68 T 0.936 P 0.541 P 0.042 N 0.000 P 1.01 L -1.52 D -0.944 T 0.000 T 0.249 0.907 8.69 3.93 2.262 1.603 3.200 0.907281 NA 0.3 0.479952 0.101711 ID=COSM432666;OCCURENCE=1(breast) 0.319 NA 13.9167814 281 18 28720147 28720147 C T exonic DSC1 NA nonsynonymous SNV DSC1:NM_004948:exon10:c.G1378A:p.V460I,DSC1:NM_024421:exon10:c.G1378A:p.V460I exonic ENSG00000134765 NA nonsynonymous SNV ENSG00000134765:ENST00000257197:exon10:c.G1378A:p.V460I,ENSG00000134765:ENST00000257198:exon10:c.G1378A:p.V460I Score=363;Name=lod=40 NA 18q12.1 NA NA NA NA rs17800159 0.21 0.21 0.189 0.186302 0.1332 0.4792 0.232 0.0091 0.1462 0.12 0.49 0.21 0.02 0.1594 0.49 0.56 T 0.999 D 0.995 D 0.000 D 0.005 P 1.62 L -0.09 T -0.931 T 0.000 T 0.099 2.631 14.76 5.83 2.761 3.858 17.903 2.631257 2.631257 0.16 0.128837 0.024966 ID=COSM148417,COSM148416;OCCURENCE=1(stomach) 0.275 NA 13.9118964 281 8 101719201 101719201 A G exonic PABPC1 NA nonsynonymous SNV PABPC1:NM_002568:exon10:c.T1361C:p.I454T exonic ENSG00000070756 NA nonsynonymous SNV ENSG00000070756:ENST00000522658:exon1:c.T2C:p.I1T,ENSG00000070756:ENST00000318607:exon10:c.T1361C:p.I454T,ENSG00000070756:ENST00000519004:exon11:c.T1226C:p.I409T,ENSG00000070756:ENST00000522387:exon11:c.T1265C:p.I422T Score=668;Name=lod=693 NA 8q22.3 Score=942;Name=V$GATA2_01 NA NA NA rs72681439 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4216 NA . . 0.0 B 0.004 B 0.000 D 0.999 D 1.485 L 2.61 T -0.727 T 0.252 T 0.67 3.423 17.57 5.63 2.272 8.628 16.125 3.422927 3.422927 0.26 NA NA NA NA NA 13.9117334 281 12 29617550 29617550 G A exonic OVCH1 NA nonsynonymous SNV OVCH1:NM_183378:exon18:c.C2015T:p.S672F exonic ENSG00000187950 NA nonsynonymous SNV ENSG00000187950:ENST00000318184:exon18:c.C2015T:p.S672F Score=259;Name=lod=15 NA 12p11.22 NA NA NA NA rs11050243 0.16 0.16 0.155 0.182109 0.1352 0.0853 0.1023 0.3585 0.1483 0.14 0.1 0.08 0.33 0.1502 0.34 0.12 T 1.0 D 0.995 D . . 0.986 P 2.185 M 0.07 T -1.050 T 0.000 T 0.193 3.195 16.7 2.73 1.836 1.776 7.077 3.194855 3.194855 0.07 0.141072 0.338918 ID=COSM147461;OCCURENCE=1(stomach) 0.254 NA 13.9068614 282 17 37814080 37814080 G A exonic STARD3 NA nonsynonymous SNV STARD3:NM_001165937:exon4:c.G350A:p.R117Q,STARD3:NM_001165938:exon4:c.G350A:p.R117Q,STARD3:NM_006804:exon4:c.G350A:p.R117Q exonic ENSG00000131748 NA nonsynonymous SNV ENSG00000131748:ENST00000580611:exon3:c.G272A:p.R91Q,ENSG00000131748:ENST00000336308:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000394250:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000443521:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000544210:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000577248:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000578577:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000583419:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000583718:exon4:c.G350A:p.R117Q,ENSG00000131748:ENST00000581894:exon5:c.G350A:p.R117Q Score=545;Name=lod=219 NA 17q12 Score=883;Name=V$ZID_01 Name=ZNF263 NA NA rs1877031 0.49 0.49 0.498 0.46905 0.673 0.4157 0.5043 0.1853 0.6728 0.68 0.48 0.53 0.18 0.6146 0.68 0.31 T 0.97 D 0.637 P 0.000 D 0.000 P 1.245 L 0.94 T -0.978 T 0.000 T 0.531 3.169 16.6 4.38 2.125 3.666 17.305 3.168811 3.168811 0.12 0.652674 0.236723 ID=COSM148258;OCCURENCE=1(stomach),1(large_intestine) 0.471 NA 13.8930594 283 16 15111218 15111218 C T exonic PDXDC1 NA nonsynonymous SNV PDXDC1:NM_015027:exon11:c.C902T:p.P301L exonic ENSG00000179889 NA nonsynonymous SNV ENSG00000179889:ENST00000447912:exon10:c.C629T:p.P210L,ENSG00000179889:ENST00000450288:exon10:c.C818T:p.P273L,ENSG00000179889:ENST00000455313:exon10:c.C833T:p.P278L,ENSG00000179889:ENST00000567306:exon10:c.C788T:p.P263L,ENSG00000179889:ENST00000569715:exon10:c.C821T:p.P274L,ENSG00000179889:ENST00000325823:exon11:c.C857T:p.P286L,ENSG00000179889:ENST00000396410:exon11:c.C902T:p.P301L,ENSG00000179889:ENST00000535621:exon11:c.C902T:p.P301L,ENSG00000179889:ENST00000563679:exon11:c.C956T:p.P319L Score=346;Name=lod=34 NA 16p13.11 Score=740;Name=V$PPARA_01 Name=p300,FOXA1_(SC-101058),FOXA2_(SC-6554),FOXA1_(C-20) Name=90 NA rs4985162 0.27 0.27 0.164 NA NA NA NA NA NA 0.2 0.43 0.35 0.12 0.2654 0.43 0.35 T 0.015 B 0.016 B 0.000 N 0.001 P 0.55 N 1.19 T -0.920 T 0.000 T 0.368 2.317 13.7 4.49 1.260 3.082 12.440 2.316841 2.316841 0.33 0.183151 0.145426 NA 0.051 NA 13.8847824 283 5 120021817 120021817 C A exonic PRR16 NA nonsynonymous SNV PRR16:NM_016644:exon3:c.C259A:p.P87T exonic ENSG00000184838 NA nonsynonymous SNV ENSG00000184838:ENST00000407149:exon2:c.C328A:p.P110T,ENSG00000184838:ENST00000509923:exon2:c.C118A:p.P40T,ENSG00000184838:ENST00000379551:exon3:c.C259A:p.P87T,ENSG00000184838:ENST00000446965:exon3:c.C118A:p.P40T,ENSG00000184838:ENST00000505123:exon4:c.C118A:p.P40T Score=355;Name=lod=37 NA 5q23.1 NA NA NA NA rs17853861 0.1 0.1 0.092 0.091853 0.162 0.0536 0.085 0.0711 0.092 0.16 0.06 0.09 0.05 0.1291 0.16 . . 1.0 D 0.999 D 0.000 D 0.000 P 1.845 L 0.83 T -1.203 T 0.002 T 0.481 3.74 18.99 5.58 2.640 3.306 18.398 3.740256 3.740256 0 0.158488 0.079891 ID=COSM149903;OCCURENCE=1(stomach) NA NA 13.8837454 284 16 65025718 65025718 G A exonic CDH11 NA nonsynonymous SNV CDH11:NM_001797:exon6:c.C764T:p.T255M exonic ENSG00000140937 NA nonsynonymous SNV ENSG00000140937:ENST00000566827:exon5:c.C386T:p.T129M,ENSG00000140937:ENST00000268603:exon6:c.C764T:p.T255M,ENSG00000140937:ENST00000394156:exon6:c.C764T:p.T255M Score=636;Name=lod=513 NA 16q21 NA NA NA NA rs35195 0.22 0.22 0.196 0.18151 0.331 0.2044 0.2075 0.0234 0.1994 0.32 0.23 0.25 0.03 0.2728 0.36 0.01 D 0.996 D 0.88 P 0.000 N 0.000 P 2.205 M 3.92 T -0.899 T 0.000 T 0.227 3.782 19.2 4.59 1.344 3.388 13.283 3.782474 3.782474 0 0.356047 0.072855 NA 0.159 NA 13.8734864 285 16 72184566 72184566 C T exonic PMFBP1 NA nonsynonymous SNV PMFBP1:NM_031293:exon5:c.G577A:p.E193K,PMFBP1:NM_001160213:exon6:c.G142A:p.E48K exonic ENSG00000118557 NA nonsynonymous SNV ENSG00000118557:ENST00000237353:exon5:c.G577A:p.E193K,ENSG00000118557:ENST00000355636:exon5:c.G142A:p.E48K,ENSG00000118557:ENST00000537465:exon5:c.G577A:p.E193K Score=440;Name=lod=82 NA 16q22.2 NA NA NA NA rs35370634 0.08 0.08 0.079 0.0876597 0.162 0.0218 0.0634 0.0151 0.1943 0.17 0.02 0.07 0.02 0.1449 0.17 0.75 T 1.0 D 0.989 D 0.000 D 0.000 P 0.695 N 2.47 T -0.986 T 0.002 T 0.432 5.204 33 6.17 2.941 3.761 16.380 5.203928 5.203928 0 0.163256 0.035942 NA 0.138 NA 13.8631774 286 17 39622068 39622068 G T exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon3:c.C665A:p.S222Y exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon3:c.C665A:p.S222Y Score=538;Name=lod=205 NA 17q21.2 NA NA NA NA rs2071561 0.47 0.47 0.431 0.499601 0.4761 0.6369 0.5187 0.2413 0.7178 0.46 0.59 0.57 0.25 0.512 0.59 0 D 0.983 D 0.977 D 0.002 N 0.268 P 3.725 H -2.74 D -1.064 T 0.000 T 0.369 3.514 17.95 4.12 1.285 0.600 9.139 3.513733 3.513733 0 0.498605 0.287789 NA 0.42 NA 13.8466284 286 12 124826462 124826462 C T exonic NCOR2 NA nonsynonymous SNV NCOR2:NM_001077261:exon35:c.G5065A:p.A1689T,NCOR2:NM_001206654:exon35:c.G5065A:p.A1689T,NCOR2:NM_006312:exon36:c.G5095A:p.A1699T exonic ENSG00000196498 NA nonsynonymous SNV ENSG00000196498:ENST00000397355:exon34:c.G5068A:p.A1690T,ENSG00000196498:ENST00000404121:exon34:c.G3778A:p.A1260T,ENSG00000196498:ENST00000404621:exon34:c.G5065A:p.A1689T,ENSG00000196498:ENST00000405201:exon34:c.G5095A:p.A1699T,ENSG00000196498:ENST00000429285:exon34:c.G5065A:p.A1689T,ENSG00000196498:ENST00000356219:exon35:c.G5116A:p.A1706T Score=512;Name=lod=161 NA 12q24.31 NA NA NA NA rs2229840 0.15 0.15 0.125 0.160942 0.1551 0.1071 0.2637 0.112 0.2157 0.16 0.11 0.23 0.1 0.1705 0.23 0.34 T 1.0 D 0.99 D 0.000 D 0.000 P 0.665 N 2.37 T -1.025 T 0.000 T 0.378 2.976 15.92 4.37 1.985 4.646 10.589 2.976007 2.976007 0.38 0.162465 0.115932 NA 0.123 NA 13.8452684 287 21 47545768 47545768 G A exonic COL6A2 NA nonsynonymous SNV COL6A2:NM_001849:exon26:c.G2039A:p.R680H,COL6A2:NM_058174:exon26:c.G2039A:p.R680H,COL6A2:NM_058175:exon26:c.G2039A:p.R680H exonic ENSG00000142173 NA nonsynonymous SNV ENSG00000142173:ENST00000413758:exon11:c.G710A:p.R237H,ENSG00000142173:ENST00000397763:exon25:c.G2039A:p.R680H,ENSG00000142173:ENST00000409416:exon25:c.G2039A:p.R680H,ENSG00000142173:ENST00000300527:exon26:c.G2039A:p.R680H,ENSG00000142173:ENST00000310645:exon26:c.G2039A:p.R680H,ENSG00000142173:ENST00000357838:exon26:c.G2039A:p.R680H Score=584;Name=lod=316 NA 21q22.3 NA NA NA NA rs1042917 0.44 0.44 0.42 0.39397 0.5099 0.4306 0.6398 0.208 0.3139 0.53 0.41 0.62 0.23 0.4784 0.62 0.09 T 1.0 D 0.982 D 0.000 D 0.000 P 1.39 L -1.15 T -0.854 T 0.000 T 0.385 2.613 14.7 4.4 1.998 4.764 16.994 2.613296 2.613296 0.09 0.501163 0.240808 NA 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079868.2;CLNDSDB=.;CLNDSDBID=. 13.8438704 287 14 100615961 100615961 C T exonic DEGS2 NA nonsynonymous SNV DEGS2:NM_206918:exon2:c.G169A:p.A57T exonic ENSG00000168350 NA nonsynonymous SNV ENSG00000168350:ENST00000305631:exon2:c.G169A:p.A57T Score=483;Name=lod=122 NA 14q32.2 Score=718;Name=V$NRSF_01 NA NA NA rs4905937 0.14 0.14 0.115 0.142372 0.167 0.1825 0.1599 0.0749 0.1544 0.16 0.17 0.15 0.08 0.1648 0.17 0.39 T 0.908 P 0.449 P 0.000 D 0.000 P 1.515 L 1.42 T -1.057 T 0.000 T 0.216 3.522 17.99 4.4 2.154 5.961 17.313 3.521991 3.521991 0.21 0.160224 0.086482 NA 0.072 NA 13.8413094 287 1 205812912 205812912 A G exonic PM20D1 NA nonsynonymous SNV PM20D1:NM_152491:exon6:c.T710C:p.I237T exonic ENSG00000162877 NA nonsynonymous SNV ENSG00000162877:ENST00000367136:exon6:c.T710C:p.I237T NA NA 1q32.1 NA NA NA NA rs7518979 0.27 0.27 0.282 0.254593 0.169 0.3829 0.1398 0.3691 0.137 0.16 0.38 0.12 0.39 0.1782 0.39 0.07 T 0.996 D 0.97 D 0.000 D 0.448 P 3.02 M 2.93 T -0.977 T 0.000 T 0.359 1.951 12.48 4.92 1.085 6.988 13.217 1.950833 1.950833 0.02 0.145116 0.332728 NA 0.203 NA 13.8410174 288 1 144877176 144877176 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon28:c.G4511A:p.R1504Q,PDE4DIP:NM_014644:exon28:c.G4511A:p.R1504Q,PDE4DIP:NM_001198832:exon31:c.G4379A:p.R1460Q exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon28:c.G4511A:p.R1504Q,ENSG00000178104:ENST00000369356:exon28:c.G4511A:p.R1504Q,ENSG00000178104:ENST00000313382:exon31:c.G4379A:p.R1460Q,ENSG00000178104:ENST00000369359:exon31:c.G4919A:p.R1640Q,ENSG00000178104:ENST00000530740:exon31:c.G4919A:p.R1640Q Score=522;Name=lod=177 NA 1q21.1 Score=827;Name=V$SREBP1_02 Name=HEY1,CTCF NA NA rs2762875 0.5 0.5 0.44 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 1 T 0.0 B 0.0 B . . 1.000 D -2.325 N 5.54 T -0.991 T 0.000 T 0.307 0.264 5.425 5.18 0.994 5.444 9.320 0.263515 NA 1 NA NA NA 0.5 NA 13.8333334 288 1 144882823 144882823 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_014644:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_001198832:exon27:c.G3394A:p.A1132T exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon24:c.G3196A:p.A1066T,ENSG00000178104:ENST00000369356:exon24:c.G3196A:p.A1066T,ENSG00000178104:ENST00000313382:exon27:c.G3394A:p.A1132T,ENSG00000178104:ENST00000369359:exon27:c.G3607A:p.A1203T,ENSG00000178104:ENST00000530740:exon27:c.G3607A:p.A1203T Score=559;Name=lod=249 NA 1q21.1 NA NA NA NA rs1698647 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.58 T 0.998 D 0.995 D . . 1.000 D 0.805 L 4.69 T -0.530 T 0.009 T 0.429 5.06 31 5.76 2.736 3.310 17.451 5.060447 5.060447 0.07 NA NA NA 0.5 NA 13.8333334 288 1 144912233 144912233 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001002812:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198834:exon15:c.G2042A:p.R681H,PDE4DIP:NM_014644:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198832:exon18:c.G2240A:p.R747H exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon11:c.G2531A:p.R844H,ENSG00000178104:ENST00000479408:exon11:c.G1403A:p.R468H,ENSG00000178104:ENST00000529945:exon11:c.G2531A:p.R844H,ENSG00000178104:ENST00000369349:exon15:c.G2042A:p.R681H,ENSG00000178104:ENST00000369351:exon15:c.G2042A:p.R681H,ENSG00000178104:ENST00000369354:exon15:c.G2042A:p.R681H,ENSG00000178104:ENST00000369356:exon15:c.G2042A:p.R681H,ENSG00000178104:ENST00000313382:exon18:c.G2240A:p.R747H,ENSG00000178104:ENST00000369359:exon18:c.G2453A:p.R818H,ENSG00000178104:ENST00000530740:exon18:c.G2453A:p.R818H Score=476;Name=lod=115 NA 1q21.1 Score=735;Name=V$MYOGNF1_01 NA NA NA rs1629011 0.42 0.42 0.45 NA NA NA NA NA NA 0.43 0.44 0.44 0.38 0.5 0.5 0.12 T 1.0 D 0.998 D . . 1.000 D 0.975 L 4.35 T -1.123 T 0.052 T 0.571 1.457 10.82 4.62 0.743 2.224 12.264 1.456915 1.456915 0 NA NA NA 0.5 NA 13.8333334 288 19 55677895 55677895 A C exonic DNAAF3 NA nonsynonymous SNV DNAAF3:NM_001256714:exon1:c.T122G:p.I41R,DNAAF3:NM_178837:exon1:c.T122G:p.I41R exonic ENSG00000167646 NA nonsynonymous SNV ENSG00000167646:ENST00000391720:exon1:c.T122G:p.I41R,ENSG00000167646:ENST00000527223:exon1:c.T122G:p.I41R Score=336;Name=lod=31 NA 19q13.42 NA Name=NF-YB,Pol2,NF-YA,E2F6_(H-50),STAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008294 NA 0.04 D 0.729 P 0.354 B 0.890 N 1.000 D 0.69 N 2.05 T -1.092 T 0.040 T 0.189 1.47 10.86 2.91 0.864 0.427 5.976 1.469847 1.469847 0 NA NA NA NA NA 13.8333251 288 16 2150254 2150254 G A exonic PKD1 NA nonsynonymous SNV PKD1:NM_000296:exon28:c.C9625T:p.R3209C,PKD1:NM_001009944:exon28:c.C9625T:p.R3209C exonic ENSG00000008710 NA nonsynonymous SNV ENSG00000008710:ENST00000262304:exon28:c.C9625T:p.R3209C,ENSG00000008710:ENST00000423118:exon28:c.C9625T:p.R3209C Score=544;Name=lod=217 NA 16p13.3 NA NA NA NA rs147967021 0.0005 0.0005 0.001 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00009404 0.0028 0 D 0.891 P 0.283 B 0.002 N 0.998 D 1.265 L -0.24 T -0.685 T 0.188 T 0.589 2.133 13.09 4.69 2.424 2.193 10.831 2.133364 2.133364 0 NA NA NA NA NA 13.8332394 288 6 109954427 109954427 C T exonic AK9 NA nonsynonymous SNV AK9:NM_001145128:exon11:c.G1033A:p.D345N,AK9:NM_145025:exon11:c.G1033A:p.D345N exonic ENSG00000155085 NA nonsynonymous SNV ENSG00000155085:ENST00000285397:exon11:c.G1033A:p.D345N,ENSG00000155085:ENST00000368948:exon11:c.G1033A:p.D345N,ENSG00000155085:ENST00000424296:exon11:c.G1033A:p.D345N Score=414;Name=lod=64 NA 6q21 NA NA NA NA rs200088189 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0001 NA . . 0.536 P 0.246 B 0.000 D 1.000 D 1.15 L -0.04 T -1.005 T 0.099 T 0.044 2.271 13.55 4.8 1.389 2.106 12.515 2.271427 2.271427 0.02 NA NA NA NA NA 13.8332334 288 15 70949424 70949424 T C exonic UACA NA nonsynonymous SNV UACA:NM_001008224:exon19:c.A4183G:p.I1395V,UACA:NM_018003:exon19:c.A4222G:p.I1408V exonic ENSG00000137831 NA nonsynonymous SNV ENSG00000137831:ENST00000539319:exon16:c.A3895G:p.I1299V,ENSG00000137831:ENST00000322954:exon19:c.A4222G:p.I1408V,ENSG00000137831:ENST00000379983:exon19:c.A4183G:p.I1395V,ENSG00000137831:ENST00000560441:exon19:c.A4177G:p.I1393V Score=595;Name=lod=350 NA 15q23 NA NA NA NA rs143220817 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00008257 0.0002 0.04 D 0.783 P 0.205 B 0.043 N 1.000 D 1.61 L 1.58 T -0.963 T 0.103 T 0.695 3.457 17.71 5.5 2.216 5.765 15.914 3.456784 3.456784 0 0.000116 0.000227 NA NA NA 13.8331348 288 2 71163173 71163173 C T exonic ATP6V1B1 NA nonsynonymous SNV ATP6V1B1:NM_001692:exon1:c.C89T:p.T30I exonic ENSG00000116039 NA nonsynonymous SNV ENSG00000116039:ENST00000234396:exon1:c.C89T:p.T30I,ENSG00000116039:ENST00000412314:exon1:c.C89T:p.T30I,ENSG00000116039:ENST00000432367:exon1:c.C89T:p.T30I Score=470;Name=lod=108 NA 2p13.3 NA NA NA NA rs17720303 0.17 0.17 0.138 0.158546 0.1531 0.1865 0.2147 0.115 0.1544 0.14 0.2 0.24 0.11 0.1802 0.24 0.15 T 0.0 B 0.001 B 0.000 D 0.000 P 0.805 L -1.64 D -1.098 T 0.000 T 0.335 2.772 15.23 4.89 2.256 2.279 15.559 2.7721 2.7721 0.08 0.167791 0.14049 NA 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037210.1;CLNDSDB=.;CLNDSDBID=. 13.8322424 288 17 44248837 44248837 T C exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon2:c.A673G:p.N225D,KANSL1:NM_015443:exon2:c.A673G:p.N225D,KANSL1:NM_001193465:exon3:c.A673G:p.N225D exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000432791:exon1:c.A673G:p.N225D,ENSG00000120071:ENST00000575318:exon1:c.A673G:p.N225D,ENSG00000120071:ENST00000262419:exon2:c.A673G:p.N225D,ENSG00000120071:ENST00000572904:exon2:c.A673G:p.N225D,ENSG00000120071:ENST00000574590:exon2:c.A673G:p.N225D Score=699;Name=lod=924 NA 17q21.31 Score=782;Name=V$MEF2_02 NA NA NA rs35643216 0.1 0.1 0.078 0.0726837 0.1998 0.001 0.1398 0.0113 0.0511 0.19 0.0017 0.16 0.02 0.1205 0.19 0.13 T 0.42 B 0.128 B 0.000 D 1.000 D 0.205 N 2.85 T -0.711 T 0.000 T 0.271 1.907 12.33 4.97 2.317 3.265 9.254 1.907105 1.907105 0.1 0.181977 0.037903 NA 0.051 NA 13.8310564 288 14 93649713 93649713 T C exonic MOAP1 NA nonsynonymous SNV MOAP1:NM_022151:exon3:c.A875G:p.Q292R exonic ENSG00000165943 NA nonsynonymous SNV ENSG00000165943:ENST00000556883:exon2:c.A875G:p.Q292R,ENSG00000165943:ENST00000298894:exon3:c.A875G:p.Q292R Score=329;Name=lod=29 NA 14q32.12 Score=926;Name=V$AP1_C NA Name=4 NA rs74075220 0.01 0.01 0.006 0.00758786 0.001 NA 0.0043 0.0257 NA NA NA 0.01 0.03 0.0026 0.03 0.2 T 0.784 P 0.391 B . . 0.964 N 1.445 L 2.88 T -1.065 T 0.011 T 0.146 1.711 11.68 3.45 1.816 2.514 8.672 1.710811 1.710811 0.15 0.001163 0.015433 NA 0.022 NA 13.8285704 288 15 78295765 78295765 T C exonic TBC1D2B NA nonsynonymous SNV TBC1D2B:NM_015079:exon11:c.A2456G:p.Q819R,TBC1D2B:NM_144572:exon11:c.A2456G:p.Q819R exonic ENSG00000167202 NA nonsynonymous SNV ENSG00000167202:ENST00000300584:exon11:c.A2456G:p.Q819R,ENSG00000167202:ENST00000409931:exon11:c.A2456G:p.Q819R Score=461;Name=lod=100 NA 15q24.3 NA NA NA NA rs138988358 0.0023 0.0023 NA 0.00359425 0.005 NA 0.0029 0.0083 NA 0.0026 NA 0.01 0.002 0.0018 0.01 0.11 T 0.642 P 0.412 B 0.000 D 1.000 D 1.005 L 2.0 T -0.892 T 0.147 T 0.579 2.462 14.19 5.29 1.988 6.116 14.405 2.462446 2.462446 0.01 0.001514 0.004326 NA NA NA 13.8250194 289 11 5080844 5080844 T C exonic OR52E2 NA nonsynonymous SNV OR52E2:NM_001005164:exon1:c.A14G:p.N5S exonic ENSG00000176787 NA nonsynonymous SNV ENSG00000176787:ENST00000321522:exon1:c.A14G:p.N5S NA NA 11p15.4 Score=805;Name=V$BRN2_01 NA NA NA rs16909440 0.32 0.32 0.301 0.309105 0.3241 0.3829 0.353 0.1853 0.3538 0.32 0.38 0.39 0.21 0.3369 0.39 0.01 D 0.963 D 0.601 P 0.000 D 0.947 P 2.125 M -0.07 T -0.983 T 0.000 T 0.103 2.633 14.76 3.61 1.885 0.736 7.002 2.632936 2.632936 0.01 0.350977 0.220127 NA 0.304 NA 13.8213564 289 22 26157068 26157068 C G exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon2:c.C9G:p.I3M exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000539302:exon1:c.C9G:p.I3M,ENSG00000133454:ENST00000335473:exon2:c.C9G:p.I3M,ENSG00000133454:ENST00000407587:exon2:c.C9G:p.I3M,ENSG00000133454:ENST00000536101:exon2:c.C9G:p.I3M Score=521;Name=lod=175 NA 22q12.1 NA Name=GATA-2 Name=5 NA rs61734946 0.09 0.09 0.083 0.0770767 0.1839 0.002 0.1225 0.0129 0.0992 0.19 0.0035 0.14 0.02 0.1419 0.19 0 D 0.999 D 0.998 D 0.002 N 0.984 P 1.78 L -2.59 D -0.843 T 0.003 T 0.388 3.538 18.05 -0.902 0.029 0.036 2.609 3.537953 3.537953 0 0.189309 0.040301 NA 0.058 NA 13.8182244 290 17 78073485 78073485 G A exonic CCDC40 NA nonsynonymous SNV CCDC40:NM_017950:exon20:c.G3340A:p.V1114M exonic ENSG00000141519 NA nonsynonymous SNV ENSG00000141519:ENST00000397545:exon20:c.G3340A:p.V1114M NA NA 17q25.3 Score=773;Name=V$PAX2_01 NA NA NA rs61740509 0.02 0.02 0.005 0.0133786 0.007 0.001 0.0778 0.0008 0.0041 0.01 0.0017 0.07 0.002 0.0119 0.07 0.07 T 0.99 D 0.814 P . . 0.992 N 1.935 M 0.68 T -1.120 T 0.021 T 0.503 3.057 16.2 2.42 1.239 0.732 6.333 3.056628 3.056628 0.29 0.002381 0.001213 NA 0.007 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000081928.1;CLNDSDB=.;CLNDSDBID=. 13.8120524 291 1 45795084 45795084 G A exonic MUTYH NA nonsynonymous SNV MUTYH:NM_001048171:exon16:c.C1502T:p.S501F,MUTYH:NM_001048172:exon16:c.C1463T:p.S488F,MUTYH:NM_001048173:exon16:c.C1460T:p.S487F,MUTYH:NM_001048174:exon16:c.C1460T:p.S487F,MUTYH:NM_001128425:exon16:c.C1544T:p.S515F,MUTYH:NM_012222:exon16:c.C1535T:p.S512F exonic ENSG00000132781 NA nonsynonymous SNV ENSG00000132781:ENST00000488731:exon7:c.C545T:p.S182F,ENSG00000132781:ENST00000528332:exon7:c.C587T:p.S196F,ENSG00000132781:ENST00000529984:exon7:c.C545T:p.S182F,ENSG00000132781:ENST00000354383:exon16:c.C1463T:p.S488F,ENSG00000132781:ENST00000355498:exon16:c.C1460T:p.S487F,ENSG00000132781:ENST00000372098:exon16:c.C1535T:p.S512F,ENSG00000132781:ENST00000372100:exon16:c.C1493T:p.S498F,ENSG00000132781:ENST00000372110:exon16:c.C1505T:p.S502F,ENSG00000132781:ENST00000372115:exon16:c.C1502T:p.S501F,ENSG00000132781:ENST00000448481:exon16:c.C1493T:p.S498F,ENSG00000132781:ENST00000450313:exon16:c.C1544T:p.S515F,ENSG00000132781:ENST00000456914:exon16:c.C1460T:p.S487F,ENSG00000132781:ENST00000372104:exon17:c.C1460T:p.S487F NA NA 1p34.1 Score=824;Name=V$HEN1_01 Name=BAF155,Pol2 Name=19 NA rs140118273 0.0046 0.0046 0.007 0.00459265 0.008 NA 0.0086 0.0038 0.0041 0.01 NA 0.01 0.0041 0.0079 0.022 0.04 D 0.908 P 0.351 B 0.638 N 1.000 N 1.1 L -0.34 T -0.963 T 0.131 T 0.244 0.728 7.869 0.173 -0.048 1.741 6.802 0.727764 NA 0.03 0.012558 0.008171 NA 0.022 CLINSIG=non-pathogenic|non-pathogenic|untested|non-pathogenic;CLNDBN=not_provided|MYH-associated_polyposis|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|single|not|single;CLNACC=RCV000034672.2|RCV000119200.1|RCV000121601.1|RCV000132436.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:Orphanet|.|MedGen;CLNDSDBID=.|NBK107219:C1837991:608456:ORPHA220460|.|C0027672 13.8048754 291 3 12857493 12857493 C T exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon7:c.C1148T:p.P383L,CAND2:NM_001162499:exon9:c.C1427T:p.P476L exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon7:c.C1148T:p.P383L,ENSG00000144712:ENST00000456430:exon9:c.C1427T:p.P476L Score=401;Name=lod=57 NA 3p25.2 NA Name=Rad21,CTCF Name=4 NA rs2305397 0.37 0.37 0.376 0.322883 0.5775 0.1766 0.366 0.3154 0.1912 0.57 0.15 0.34 0.33 0.4258 0.57 0.11 T 0.137 B 0.147 B 0.000 D 0.000 P 2.105 M 2.79 T -0.928 T 0.000 T 0.204 1.841 12.11 5.12 2.395 5.984 16.085 1.841013 1.841013 0.18 0.525938 0.346267 ID=COSM1418693,COSM1418692;OCCURENCE=1(large_intestine) 0.406 NA 13.8040954 291 20 25262769 25262769 G A exonic PYGB NA nonsynonymous SNV PYGB:NM_002862:exon12:c.G1504A:p.D502N exonic ENSG00000100994 NA nonsynonymous SNV ENSG00000100994:ENST00000216962:exon12:c.G1504A:p.D502N Score=284;Name=lod=19 NA 20p11.21 NA Name=HA-E2F1 NA NA rs2227891 0.19 0.19 0.165 0.162141 0.1849 0.3502 0.1297 0.0514 0.1176 0.19 0.34 0.16 0.05 0.1672 0.34 0.2 T 0.009 B 0.012 B 0.000 D 0.000 P 1.2 L -3.18 D -1.124 T 0.000 T 0.172 2.449 14.15 3.93 2.182 7.572 16.101 2.448638 2.448638 0.14 0.185276 0.079318 NA 0.094 NA 13.7959574 292 20 36993333 36993333 A G exonic LBP NA nonsynonymous SNV LBP:NM_004139:exon8:c.A848G:p.D283G exonic ENSG00000129988 NA nonsynonymous SNV ENSG00000129988:ENST00000217407:exon8:c.A848G:p.D283G NA NA 20q11.23 NA NA NA NA rs2232607 0.01 0.01 0.01 0.00459265 0.0129 NA 0.0058 0.0023 0.0031 0.01 NA 0.01 0.0041 0.0112 0.017 0.01 D 0.987 D 0.842 P 0.023 N 1.000 N 2.54 M 2.4 T -1.054 T 0.051 T 0.259 1.84 12.11 4.46 1.129 1.925 9.510 1.840067 1.840067 0.01 0.016744 0.003404 NA NA NA 13.7924894 292 1 19596124 19596124 C T ncRNA_exonic AKR7L NA NA NA exonic ENSG00000211454 NA unknown UNKNOWN Score=567;Name=lod=268 NA 1p36.13 Score=808;Name=V$CEBP_C Name=CTCF NA NA rs2235794 0.66 0.66 0.625 0.664936 0.6918 0.8016 0.7334 0.3964 0.8108 0.68 0.81 0.72 0.41 0.6867 0.81 0.01 D 1.0 D 0.997 D 0.000 D 0.000 P . . . . -0.962 T 0.000 T 0.414 4.145 21.4 3.88 2.161 7.077 14.909 4.144836 4.144836 NA 0.663419 0.434249 NA 0.428 NA 13.7914143 292 7 151680072 151680072 T C exonic GALNTL5 NA nonsynonymous SNV GALNTL5:NM_145292:exon4:c.T370C:p.C124R exonic ENSG00000106648 NA nonsynonymous SNV ENSG00000106648:ENST00000392800:exon4:c.T370C:p.C124R,ENSG00000106648:ENST00000431418:exon5:c.T370C:p.C124R Score=300;Name=lod=22 NA 7q36.1 NA NA NA NA rs6960270 0.83 0.83 0.805 0.801118 0.8449 0.8403 0.8602 0.739 0.7577 0.86 0.8 0.86 0.78 0.8414 0.86 0 D 1.0 D 0.997 D 0.000 D 0.000 P 2.89 M 0.32 T -1.019 T 0.000 T 0.316 3.978 20.4 4.65 2.056 3.525 12.349 3.97756 3.97756 0.01 0.855814 0.748071 NA 0.812 NA 13.7912194 292 2 168931636 168931636 C T exonic STK39 NA nonsynonymous SNV STK39:NM_013233:exon11:c.G1195A:p.A399T exonic ENSG00000198648 NA nonsynonymous SNV ENSG00000198648:ENST00000355999:exon11:c.G1195A:p.A399T Score=624;Name=lod=457 NA 2q24.3 NA NA NA NA rs56031549 0.01 0.01 0.006 0.00638978 0.0169 NA 0.0159 NA 0.0041 0.01 NA 0.03 NA 0.0108 0.03 0.25 T 0.599 P 0.266 B 0.000 D 1.000 D 1.7 L -0.74 T -0.703 T 0.146 T 0.25 4.874 27.9 5.58 2.638 5.930 14.417 4.874365 4.874365 0.04 0.01442 0.002011 NA NA NA 13.7912134 292 19 15853080 15853080 G A exonic OR10H3 NA nonsynonymous SNV OR10H3:NM_013938:exon1:c.G878A:p.S293N exonic ENSG00000171936 NA nonsynonymous SNV ENSG00000171936:ENST00000305892:exon1:c.G878A:p.S293N Score=403;Name=lod=58 NA 19p13.12 NA NA NA NA rs2240229 0.15 0.15 0.146 0.157348 0.169 0.122 0.111 0.1505 0.2239 0.17 0.14 0.1 0.16 0.1877 0.2 0.01 D 1.0 D 0.999 D 0.031 U 0.949 P 3.39 M 1.1 T -0.992 T 0.001 T 0.144 1.583 11.25 2.37 1.330 0.941 10.392 1.582703 1.582703 0.01 0.188721 0.173854 NA 0.181 NA 13.7879124 293 6 30890483 30890483 G T exonic VARS2 NA nonsynonymous SNV VARS2:NM_001167733:exon21:c.G1618T:p.V540L,VARS2:NM_001167734:exon22:c.G2128T:p.V710L,VARS2:NM_020442:exon22:c.G2038T:p.V680L exonic ENSG00000137411 NA nonsynonymous SNV ENSG00000137411:ENST00000321897:exon21:c.G2038T:p.V680L,ENSG00000137411:ENST00000542001:exon21:c.G1618T:p.V540L,ENSG00000137411:ENST00000416670:exon22:c.G2038T:p.V680L,ENSG00000137411:ENST00000541562:exon22:c.G2128T:p.V710L Score=504;Name=lod=149 NA 6p21.33 Score=967;Name=V$LMO2COM_01 Name=CTCF Name=15 NA rs2074506 0.24 0.24 0.245 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.324 0.38 0.14 T 0.594 P 0.283 B 0.002 N 0.000 P 0.95 L 3.56 T -0.906 T 0.010 T 0.262 2.058 12.84 5.31 2.505 3.911 16.462 2.057783 2.057783 0.31 0.376616 0.145792 NA 0.283 NA 13.7768174 294 6 29407970 29407970 T C exonic OR10C1 NA nonsynonymous SNV OR10C1:NM_013941:exon1:c.T178C:p.F60L exonic ENSG00000206474 NA nonsynonymous SNV ENSG00000206474:ENST00000444197:exon1:c.T178C:p.F60L Score=443;Name=lod=84 NA 6p22.1 Score=864;Name=V$NKX3A_01 NA NA NA rs2074469 0.18 0.18 0.162 0.178714 0.1839 0.249 0.245 0.0756 0.1933 0.19 0.24 0.24 0.07 0.19 0.24 0.07 T 0.997 D 0.995 D 0.002 U 0.000 P 2.05 M 6.65 T -0.668 T 0.003 T 0.133 2.177 13.24 3.6 1.634 0.455 12.35 2.177007 2.177007 NA 0.187846 0.083388 NA 0.152 NA 13.7715874 294 2 98373842 98373842 A T exonic TMEM131 NA nonsynonymous SNV TMEM131:NM_015348:exon41:c.T5372A:p.V1791D exonic ENSG00000075568 NA nonsynonymous SNV ENSG00000075568:ENST00000186436:exon41:c.T5372A:p.V1791D Score=321;Name=lod=27 NA 2q11.2 Score=790;Name=V$MIF1_01 NA NA NA rs149630938 0.01 0.01 0.009 0.0123802 0.0239 NA 0.0216 0.0166 0.001 0.02 NA 0.02 0.02 0.0175 0.023 0.13 T 0.731 P 0.241 B 0.001 N 1.000 D 0 N 1.31 T -1.086 T 0.027 T 0.085 3.244 16.88 5.48 2.304 8.012 15.729 3.243662 3.243662 0 0.022781 0.014971 NA 0.007 NA 13.7691524 295 20 46365636 46365636 C T exonic SULF2 NA nonsynonymous SNV SULF2:NM_001161841:exon3:c.G226A:p.A76T,SULF2:NM_018837:exon3:c.G226A:p.A76T,SULF2:NM_198596:exon3:c.G226A:p.A76T exonic ENSG00000196562 NA nonsynonymous SNV ENSG00000196562:ENST00000359930:exon3:c.G226A:p.A76T,ENSG00000196562:ENST00000361612:exon3:c.G226A:p.A76T,ENSG00000196562:ENST00000437955:exon3:c.G226A:p.A76T,ENSG00000196562:ENST00000467815:exon3:c.G226A:p.A76T,ENSG00000196562:ENST00000484875:exon3:c.G226A:p.A76T Score=628;Name=lod=474 NA 20q13.12 Score=915;Name=V$SP1_Q6 NA NA NA rs56218501 0.1 0.1 0.1 0.0776757 0.2167 0.001 0.1354 0.0061 0.0695 0.21 NA 0.17 0.0041 0.143 0.21 0.31 T 0.002 B 0.004 B 0.000 D 0.003 P -0.03 N -4.94 D -0.815 T 0.003 T 0.172 2.362 13.86 5.44 2.559 2.973 8.508 2.362478 2.362478 0.31 0.214884 0.03813 ID=COSM1412272;OCCURENCE=1(large_intestine) 0.138 NA 13.7587494 296 3 137849888 137849888 C T exonic A4GNT NA nonsynonymous SNV A4GNT:NM_016161:exon2:c.G211A:p.V71I exonic ENSG00000118017 NA nonsynonymous SNV ENSG00000118017:ENST00000236709:exon2:c.G211A:p.V71I Score=428;Name=lod=73 NA 3q22.3 NA NA NA NA rs79791762 0.02 0.02 0.013 0.0121805 0.0318 0.004 0.0216 0.0038 0.0051 0.03 0.0017 0.03 0.01 0.0205 0.03 0.62 T 0.993 D 0.62 P 0.002 N 0.725 D 1.355 L -0.87 T -0.614 T 0.136 T 0.07 2.313 13.69 4.55 1.281 3.791 10.331 2.312966 2.312966 0.18 0.027674 0.007717 NA NA NA 13.7533594 296 11 130784396 130784396 G A exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon1:c.C1439T:p.P480L exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000265909:exon1:c.C1439T:p.P480L,ENSG00000120451:ENST00000533214:exon1:c.C1439T:p.P480L Score=272;Name=lod=17 NA 11q24.3 NA NA NA NA rs62621284 0.14 0.14 0.136 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 0.1752 0.21 0.37 T 1.0 D 0.978 D 0.022 N 0.000 P 2.075 M 2.51 T -1.163 T 0.000 T 0.526 3.042 16.15 5.63 2.660 6.284 17.854 3.041915 3.041915 0.01 0.208052 0.071558 NA 0.217 NA 13.7512814 297 6 36287312 36287312 G C exonic C6orf222 NA nonsynonymous SNV C6orf222:NM_001010903:exon11:c.C1744G:p.L582V exonic ENSG00000189325 NA nonsynonymous SNV ENSG00000189325:ENST00000437635:exon11:c.C1744G:p.L582V NA NA 6p21.31 NA Name=Max,c-Myc,CTCF,ZNF263 Name=8 NA rs743852 0.39 0.39 0.379 0.388379 0.5596 0.2183 0.3689 0.3737 0.4213 0.55 0.19 0.38 0.39 0.4756 0.56 0.02 D 1.0 D 0.993 D 0.002 N 0.993 P 2.42 M 0.02 T -0.454 T 0.289 T 0.21 3.704 18.82 3.6 1.398 0.853 7.043 3.704316 3.704316 NA 0.556163 0.397186 NA 0.449 NA 13.7419704 297 21 43510437 43510437 A G exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001004416:exon6:c.A820G:p.N274D,UMODL1:NM_001199527:exon6:c.A604G:p.N202D,UMODL1:NM_001199528:exon6:c.A604G:p.N202D,UMODL1:NM_173568:exon6:c.A820G:p.N274D exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400424:exon6:c.A604G:p.N202D,ENSG00000177398:ENST00000400427:exon6:c.A604G:p.N202D,ENSG00000177398:ENST00000408910:exon6:c.A820G:p.N274D,ENSG00000177398:ENST00000408989:exon6:c.A820G:p.N274D NA NA 21q22.3 NA NA NA NA rs17114359 NA NA NA 0.0790735 0.0467 NA 0.0331 0.2148 0.0429 NA NA NA NA 0.0486 0.11 0.04 D 0.983 D 0.79 P 0.878 N 1.000 P 0.695 N -2.96 D 0.127 D 0.695 D 0.114 1.714 11.69 1.51 0.188 1.864 8.693 1.714101 1.714101 0.11 NA NA NA 0.08 NA 13.7380334 297 12 48501161 48501161 A T exonic PFKM NA nonsynonymous SNV PFKM:NM_001166686:exon2:c.A5T:p.H2L exonic ENSG00000152556 NA nonsynonymous SNV ENSG00000152556:ENST00000340802:exon2:c.A5T:p.H2L,ENSG00000152556:ENST00000546755:exon2:c.A5T:p.H2L,ENSG00000152556:ENST00000547581:exon2:c.A5T:p.H2L,ENSG00000152556:ENST00000548288:exon2:c.A5T:p.H2L,ENSG00000152556:ENST00000549366:exon2:c.A5T:p.H2L,ENSG00000152556:ENST00000552792:exon2:c.A5T:p.H2L Score=441;Name=lod=83 NA 12q13.11 Score=809;Name=V$BRN2_01 Name=PAX5-C20,PAX5-N19 Name=9 NA rs11609399 0.35 0.35 0.318 0.35623 0.162 0.6468 0.4568 0.233 0.3517 0.16 0.6 0.45 0.27 0.2663 0.6 0.05 D . . . . 0.209 N 0.000 P 0 N -1.33 T -0.924 T 0.000 T 0.131 1.036 9.231 -2.34 -0.434 -1.232 8.661 1.035795 NA 0 0.169877 0.227679 NA 0.203 NA 13.7351564 298 17 26096597 26096597 G A exonic NOS2 NA nonsynonymous SNV NOS2:NM_000625:exon16:c.C1823T:p.S608L exonic ENSG00000007171 NA nonsynonymous SNV ENSG00000007171:ENST00000313735:exon16:c.C1823T:p.S608L Score=458;Name=lod=97 NA 17q11.2 Score=816;Name=V$GFI1_01 NA NA NA rs2297518 0.17 0.17 0.145 0.165335 0.2316 0.1518 0.1744 0.1271 0.1564 0.23 0.13 0.19 0.13 0.1777 0.23 0.16 T 0.918 P 0.623 P 0.001 D 0.001 P 1.315 L -0.83 T -1.190 T 0.000 T 0.198 3.41 17.52 5.27 2.464 6.204 17.460 3.409541 3.409541 0.05 0.195349 0.113482 NA 0.174 NA 13.7286844 298 12 123806219 123806219 C T exonic SBNO1 NA nonsynonymous SNV SBNO1:NM_001167856:exon16:c.G2186A:p.S729N,SBNO1:NM_018183:exon16:c.G2183A:p.S728N exonic ENSG00000139697 NA nonsynonymous SNV ENSG00000139697:ENST00000267176:exon16:c.G2183A:p.S728N,ENSG00000139697:ENST00000420886:exon16:c.G2186A:p.S729N,ENSG00000139697:ENST00000602398:exon17:c.G2186A:p.S729N,ENSG00000139697:ENST00000602750:exon17:c.G2183A:p.S728N Score=594;Name=lod=346 NA 12q24.31 NA NA NA NA rs1060105 0.13 0.13 0.121 0.124601 0.2227 0.002 0.1888 0.0514 0.2035 0.23 NA 0.19 0.06 0.187 0.23 0.48 T 0.981 D 0.943 D 0.000 D 0.000 P 1.39 L 1.45 T -1.120 T 0.000 T 0.063 4.065 20.9 5.48 2.551 6.921 19.361 4.064827 4.064827 0.17 0.197442 0.082388 NA 0.145 NA 13.7261914 299 11 51516000 51516000 C T exonic OR4C46 NA nonsynonymous SNV OR4C46:NM_001004703:exon1:c.C719T:p.S240F exonic ENSG00000185926 NA nonsynonymous SNV ENSG00000185926:ENST00000328188:exon1:c.C719T:p.S240F Score=397;Name=lod=55 NA 11p11.12 NA NA NA NA rs11246607 0.47 0.47 0.434 0.433307 0.5467 0.5427 0.5893 0.202 0.4059 0.56 0.53 0.6 0.16 0.5183 0.6 0.01 D 0.884 P 0.68 P 0.000 D 0.917 P 3.045 M 1.1 T -0.903 T 0.000 T 0.264 1.461 10.83 2.33 1.345 5.273 10.462 1.460606 1.460606 0.01 0.545624 0.261018 NA 0.341 NA 13.7227094 299 12 56814653 56814653 G A exonic TIMELESS NA nonsynonymous SNV TIMELESS:NM_003920:exon25:c.C3053T:p.P1018L exonic ENSG00000111602 NA nonsynonymous SNV ENSG00000111602:ENST00000554616:exon15:c.C1544T:p.P515L,ENSG00000111602:ENST00000229201:exon25:c.C3050T:p.P1017L,ENSG00000111602:ENST00000553532:exon25:c.C3053T:p.P1018L Score=436;Name=lod=79 NA 12q13.3 NA NA NA NA rs2291739 0.42 0.42 0.436 0.391573 0.5636 0.2768 0.3703 0.3124 0.455 0.56 0.32 0.4 0.32 0.4924 0.56 0.06 T 1.0 D 0.977 D 0.000 D 0.000 P 1.955 M 2.69 T -0.871 T 0.000 T 0.808 3.541 18.07 5.4 2.708 9.170 18.318 3.54119 3.54119 0.1 0.556512 0.35429 NA 0.464 NA 13.7208214 300 12 48919659 48919659 T C exonic OR8S1 NA nonsynonymous SNV OR8S1:NM_001005203:exon1:c.T245C:p.L82P exonic ENSG00000197376 NA nonsynonymous SNV ENSG00000197376:ENST00000310194:exon1:c.T245C:p.L82P Score=278;Name=lod=18 NA 12q13.11 NA NA NA NA rs4075258 0.54 0.54 0.553 0.578275 0.5139 0.6905 0.6599 0.4849 0.5971 0.44 0.71 0.62 0.46 0.5744 0.71 0 D 1.0 D 0.992 D 0.006 N 0.000 P 3.885 H 7.41 T -1.097 T 0.000 T 0.485 3.831 19.46 5.03 2.105 4.302 12.762 3.831371 3.831371 0 0.53093 0.495461 NA 0.246 NA 13.7141034 300 10 44052903 44052903 A C exonic ZNF239 NA nonsynonymous SNV ZNF239:NM_001099283:exon2:c.T625G:p.C209G,ZNF239:NM_005674:exon2:c.T625G:p.C209G,ZNF239:NM_001099284:exon3:c.T625G:p.C209G,ZNF239:NM_001099282:exon4:c.T625G:p.C209G exonic ENSG00000196793 NA nonsynonymous SNV ENSG00000196793:ENST00000306006:exon2:c.T625G:p.C209G,ENSG00000196793:ENST00000535642:exon2:c.T625G:p.C209G,ENSG00000196793:ENST00000426961:exon3:c.T625G:p.C209G,ENSG00000196793:ENST00000374446:exon4:c.T625G:p.C209G Score=284;Name=lod=19 NA 10q11.21 NA Name=SETDB1 NA NA rs2230661 0.52 0.52 0.499 0.544928 0.5308 0.5506 0.513 0.4917 0.6483 0.55 0.57 0.48 0.45 0.5573 0.58 0.01 D 0.998 D 0.991 D . . 0.157 P 3.895 H -0.97 T -0.961 T 0.000 T 0.314 1.92 12.38 2.88 0.900 4.452 7.281 1.920041 1.920041 0.03 0.534581 0.532512 NA 0.543 NA 13.7106524 301 6 31238909 31238909 G A exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon3:c.C560T:p.T187M,HLA-C:NM_002117:exon3:c.C560T:p.T187M exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon3:c.C560T:p.T187M,ENSG00000204525:ENST00000383329:exon3:c.C560T:p.T187M NA NA 6p21.33 NA Name=Pol2-4H8 NA NA rs1050686 NA NA 0.01 0.378794 0.3141 0.3641 0.3761 0.413 0.4162 NA NA NA NA 0.3147 NA 0.05 D 0.925 P 0.676 P 0.000 U 1.000 N 3.535 H 5.67 T -0.885 T 0.004 T 0.575 -0.666 1.083 -5.41 -5.533 -9.317 7.012 -0.666291 NA 0.03 NA NA NA NA NA 13.7045334 301 5 13811775 13811775 T C exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon44:c.A7388G:p.Q2463R exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon44:c.A7388G:p.Q2463R Score=414;Name=lod=64 NA 5p15.2 NA NA NA NA rs10078391 0.28 0.28 0.276 0.262181 0.2147 0.5585 0.1758 0.1884 0.1667 0.22 0.51 0.17 0.2 0.2149 0.51 0.02 D 0.389 B 0.194 B 0.000 D 0.000 P 2.65 M 1.79 T -0.922 T 0.000 T 0.28 2.73 15.09 5.78 2.204 7.977 16.119 2.730316 2.730316 0.01 0.204767 0.201543 NA 0.261 NA 13.6989664 302 22 30891294 30891294 G C exonic SEC14L4 NA nonsynonymous SNV SEC14L4:NM_001161368:exon5:c.C370G:p.R124G,SEC14L4:NM_174977:exon5:c.C370G:p.R124G exonic ENSG00000133488 NA nonsynonymous SNV ENSG00000133488:ENST00000255858:exon5:c.C370G:p.R124G,ENSG00000133488:ENST00000381982:exon5:c.C370G:p.R124G,ENSG00000133488:ENST00000392772:exon5:c.C208G:p.R70G,ENSG00000133488:ENST00000540456:exon6:c.C325G:p.R109G Score=355;Name=lod=37 NA 22q12.2 Score=985;Name=V$STAT3_02 NA NA NA rs9606739 0.16 0.16 0.125 0.148562 0.2296 0.0397 0.2839 0.1082 0.136 0.22 0.04 0.23 0.13 0.1953 0.23 0.33 T 0.868 P 0.525 P 0.000 D 0.000 P 1.7 L -0.99 T -1.115 T 0.000 T 0.312 1.898 12.3 2.62 1.161 2.707 11.674 1.89792 1.89792 0 0.225233 0.12778 NA 0.065 NA 13.6832004 303 2 223559089 223559089 T C exonic MOGAT1 NA nonsynonymous SNV MOGAT1:NM_058165:exon4:c.T487C:p.S163P exonic ENSG00000124003 NA nonsynonymous SNV ENSG00000124003:ENST00000446656:exon4:c.T487C:p.S163P Score=361;Name=lod=39 NA 2q36.1 Score=852;Name=V$IRF7_01 NA NA NA rs1868024 0.23 0.23 0.229 0.229832 0.2336 0.1161 0.2349 0.3654 0.1564 0.22 0.11 0.26 0.34 0.2135 0.34 0.37 T 0.022 B 0.104 B 0.000 D 0.000 P 1.025 L -2.93 D -1.104 T 0.000 T 0.085 -1.247 0.052 2.96 1.049 2.651 7.694 -1.247371 NA 0.41 0.218391 0.343432 NA 0.232 NA 13.6678424 303 11 60893235 60893235 C T exonic CD5 NA nonsynonymous SNV CD5:NM_014207:exon10:c.C1412T:p.A471V exonic ENSG00000110448 NA nonsynonymous SNV ENSG00000110448:ENST00000347785:exon10:c.C1412T:p.A471V Score=423;Name=lod=70 NA 11q12.2 NA NA NA NA rs2229177 0.67 0.67 0.649 0.691094 0.5517 0.9881 0.6628 0.5083 0.7955 0.54 0.99 0.65 0.51 0.6105 0.99 0.01 D 1.0 D 0.952 D 0.000 D 0.010 P 1.04 L 1.49 T -1.050 T 0.000 T 0.227 4.129 21.3 5.01 2.313 4.534 16.482 4.129368 4.129368 0 0.503373 0.530413 ID=COSM1355182;OCCURENCE=1(large_intestine) 0.681 NA 13.6677604 303 14 64557734 64557734 A C exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon60:c.A11944C:p.N3982H,SYNE2:NM_182914:exon60:c.A11944C:p.N3982H exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000394768:exon8:c.A1099C:p.N367H,ENSG00000054654:ENST00000555002:exon11:c.A1846C:p.N616H,ENSG00000054654:ENST00000344113:exon60:c.A11944C:p.N3982H,ENSG00000054654:ENST00000358025:exon60:c.A11944C:p.N3982H,ENSG00000054654:ENST00000554584:exon60:c.A12043C:p.N4015H,ENSG00000054654:ENST00000357395:exon61:c.A1099C:p.N367H Score=425;Name=lod=71 NA 14q23.2 NA NA NA NA rs10137972 0.09 0.09 0.098 0.0924521 0.0467 0.0843 0.049 0.1884 0.0491 0.05 0.08 0.05 0.2 0.0659 0.2 0.12 T 0.958 D 0.66 P 0.000 D 0.000 P 1.79 L 4.53 T -1.097 T 0.000 T 0.079 1.885 12.26 3.42 0.449 5.986 8.450 1.884559 1.884559 0.58 0.055465 0.146391 NA 0.123 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118501.1;CLNDSDB=.;CLNDSDBID=. 13.6652684 304 1 236413230 236413230 T A exonic ERO1LB NA nonsynonymous SNV ERO1LB:NM_019891:exon5:c.A386T:p.D129V exonic ENSG00000086619 NA nonsynonymous SNV ENSG00000086619:ENST00000327333:exon5:c.A386T:p.D129V,ENSG00000086619:ENST00000354619:exon5:c.A386T:p.D129V,ENSG00000086619:ENST00000366589:exon5:c.A29T:p.D10V Score=369;Name=lod=42 NA 1q42.3 Score=694;Name=V$PPARG_02 NA NA NA rs2477599 0.35 0.35 0.337 0.335463 0.6014 0.1329 0.3646 0.1354 0.5204 0.62 0.13 0.36 0.15 0.4791 0.62 0.05 D 0.92 P 0.491 P 0.000 D 0.000 P 1.59 L 0.88 T -0.890 T 0.000 T 0.612 3.236 16.85 4.72 1.025 4.282 11.204 3.23606 3.23606 0.05 0.59597 0.194823 NA 0.341 NA 13.6568634 305 12 53242440 53242440 A G exonic KRT78 NA nonsynonymous SNV KRT78:NM_173352:exon1:c.T275C:p.L92P exonic ENSG00000170423 NA nonsynonymous SNV ENSG00000170423:ENST00000304620:exon1:c.T275C:p.L92P Score=363;Name=lod=40 NA 12q13.13 NA NA NA NA rs2013335 0.5 0.5 0.489 0.515375 0.5785 0.5188 0.5519 0.2965 0.7168 0.57 0.53 0.52 0.33 0.5469 0.57 0 D 1.0 D 0.998 D . . 0.000 P 3.45 M -1.2 T -0.972 T 0.000 T 0.42 3.942 20.2 5.18 2.081 7.510 14.153 3.942107 3.942107 0 0.554186 0.341126 NA 0.493 NA 13.6537474 305 1 111861974 111861974 T C exonic CHIA NA nonsynonymous SNV CHIA:NM_001258002:exon7:c.T578C:p.F193S,CHIA:NM_021797:exon8:c.T737C:p.F246S,CHIA:NM_001040623:exon9:c.T578C:p.F193S,CHIA:NM_001258003:exon9:c.T737C:p.F246S,CHIA:NM_001258001:exon10:c.T737C:p.F246S,CHIA:NM_001258005:exon10:c.T578C:p.F193S,CHIA:NM_001258004:exon11:c.T578C:p.F193S,CHIA:NM_201653:exon11:c.T1061C:p.F354S exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000483391:exon7:c.T578C:p.F193S,ENSG00000134216:ENST00000422815:exon8:c.T893C:p.F298S,ENSG00000134216:ENST00000489524:exon8:c.T578C:p.F193S,ENSG00000134216:ENST00000353665:exon9:c.T578C:p.F193S,ENSG00000134216:ENST00000430615:exon9:c.T737C:p.F246S,ENSG00000134216:ENST00000343320:exon10:c.T1061C:p.F354S,ENSG00000134216:ENST00000451398:exon10:c.T578C:p.F193S,ENSG00000134216:ENST00000369740:exon11:c.T1061C:p.F354S Score=548;Name=lod=224 NA 1p13.2 NA Name=NFKB NA NA rs2275254 0.43 0.43 0.454 0.442292 0.5954 0.38 0.3098 0.3154 0.6145 0.62 0.33 0.38 0.31 0.5082 0.62 0.02 D 1.0 D 0.997 D 0.099 N 0.215 P 3.275 M 3.4 T -1.055 T 0.046 T 0.529 2.522 14.39 3.8 0.796 3.465 9.355 2.521585 2.521585 0.05 0.576279 0.34975 NA 0.464 NA 13.6534544 305 13 41495618 41495618 C G ncRNA_exonic SUGT1P3 NA NA NA ncRNA_exonic ENSG00000168852,ENSG00000239827 NA NA NA Score=423;Name=lod=70 NA 13q14.11 Score=807;Name=V$AHR_01 Name=Pol2(b),Pol2-4H8,Rad21,CTCF,TAF1,GATA-1,Pol2 Name=116 NA rs149467900 0.01 0.01 0.003 0.00359425 0.0089 NA 0.0029 0.0008 0.0061 0.01 NA 0.0028 0.002 0.0093 0.01 0 D . . . . . . 0.970 N . . . . -0.918 T 0.134 T 0.811 2.664 14.87 3.26 2.117 1.333 12.283 2.66411 2.66411 0 NA NA NA NA NA 13.6484666 306 7 138602916 138602916 G C exonic KIAA1549 NA nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.C1456G:p.P486A,KIAA1549:NM_020910:exon2:c.C1456G:p.P486A exonic ENSG00000122778 NA nonsynonymous SNV ENSG00000122778:ENST00000242365:exon1:c.C1306G:p.P436A,ENSG00000122778:ENST00000422774:exon2:c.C1456G:p.P486A,ENSG00000122778:ENST00000440172:exon2:c.C1456G:p.P486A Score=309;Name=lod=24 NA 7q34 NA NA NA NA rs2718131 0.22 0.22 0.226 0.210463 0.2555 0.0655 0.1556 0.388 0.1125 0.25 0.08 0.15 0.4 0.215 0.4 0.18 T 1.0 D 0.998 D 0.000 D 0.001 P 1.04 L 0.21 T -0.975 T 0.000 T 0.357 2.425 14.07 4.58 2.388 4.557 14.706 2.42482 2.42482 0.04 0.230065 0.36266 NA 0.261 NA 13.6327684 306 19 19329924 19329924 C T exonic NCAN NA nonsynonymous SNV NCAN:NM_004386:exon3:c.C274T:p.P92S exonic ENSG00000130287 NA nonsynonymous SNV ENSG00000130287:ENST00000252575:exon3:c.C274T:p.P92S Score=536;Name=lod=201 NA 19p13.11 NA NA NA NA rs2228603 0.05 0.05 0.042 0.0439297 0.0676 0.0556 0.0231 0.0061 0.0736 0.07 0.06 0.02 0.01 0.0643 0.074 0.72 T 0.957 D 0.752 P 0.002 N 1.000 D 0.315 N 4.33 T -0.601 T 0.001 T 0.039 2.382 13.92 4.66 2.119 1.319 15.042 2.382116 2.382116 0.23 0.07407 0.013845 ID=COSM439006,COSM439007;OCCURENCE=2(breast) 0.051 NA 13.6273634 306 1 151062957 151062957 G A exonic GABPB2 NA nonsynonymous SNV GABPB2:NM_144618:exon3:c.G184A:p.V62I exonic ENSG00000143458 NA nonsynonymous SNV ENSG00000143458:ENST00000368916:exon2:c.G184A:p.V62I,ENSG00000143458:ENST00000368917:exon3:c.G184A:p.V62I,ENSG00000143458:ENST00000368918:exon3:c.G184A:p.V62I Score=585;Name=lod=318 NA 1q21.3 NA NA NA NA rs11204774 0.06 0.06 0.061 0.0549121 0.0656 NA 0.0346 0.1339 0.0082 0.07 NA 0.03 0.12 0.0602 0.15 0.25 T 0.915 P 0.93 D 0.000 D 0.000 P 0.68 N 1.04 T -1.059 T 0.114 T 0.343 3.86 19.61 5.46 2.861 9.368 18.097 3.860454 3.860454 0.17 0.081977 0.150931 NA 0.058 NA 13.6255564 307 13 52524488 52524488 T C exonic ATP7B NA nonsynonymous SNV ATP7B:NM_001005918:exon7:c.A2009G:p.K670R,ATP7B:NM_000053:exon10:c.A2495G:p.K832R,ATP7B:NM_001243182:exon11:c.A2162G:p.K721R exonic ENSG00000123191 NA nonsynonymous SNV ENSG00000123191:ENST00000417240:exon4:c.A311G:p.K104R,ENSG00000123191:ENST00000344297:exon7:c.A2009G:p.K670R,ENSG00000123191:ENST00000448424:exon9:c.A2261G:p.K754R,ENSG00000123191:ENST00000242839:exon10:c.A2495G:p.K832R,ENSG00000123191:ENST00000418097:exon10:c.A2495G:p.K832R,ENSG00000123191:ENST00000400366:exon11:c.A2162G:p.K721R Score=432;Name=lod=76 NA 13q14.3 NA NA NA NA rs1061472 0.49 0.49 0.492 0.502396 0.5954 0.4008 0.4769 0.4977 0.5358 0.58 0.4 0.52 0.45 0.5384 0.59 0.09 T 0.954 P 0.789 P 0.000 D 0.000 P 0.16 N -2.64 D -0.931 T 0.000 T 0.55 3.417 17.55 5.54 2.107 6.206 15.657 3.416769 3.416769 0.14 0.586337 0.483719 NA 0.464 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029356.1|RCV000078043.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 13.6131964 307 3 121415720 121415720 T C exonic GOLGB1 NA nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.A3410G:p.Y1137C,GOLGB1:NM_001256486:exon13:c.A3650G:p.Y1217C,GOLGB1:NM_001256487:exon13:c.A3533G:p.Y1178C,GOLGB1:NM_004487:exon13:c.A3635G:p.Y1212C exonic ENSG00000173230 NA nonsynonymous SNV ENSG00000173230:ENST00000494517:exon12:c.A3527G:p.Y1176C,ENSG00000173230:ENST00000340645:exon13:c.A3635G:p.Y1212C,ENSG00000173230:ENST00000393667:exon13:c.A3650G:p.Y1217C Score=272;Name=lod=17 NA 3q13.33 NA NA NA NA rs3732410 0.26 0.26 0.231 0.219848 0.2505 0.4841 0.1585 0.0522 0.1861 0.25 0.47 0.19 0.07 0.2311 0.47 0.17 T 0.999 D 0.969 D 0.000 D 0.154 P 0.975 L 2.09 T -0.897 T 0.000 T 0.5 1.349 10.43 4.59 2.210 1.966 10.852 1.349415 1.349415 0.24 0.245698 0.074217 NA 0.138 NA 13.6060354 308 22 24468386 24468386 G A exonic CABIN1 NA nonsynonymous SNV CABIN1:NM_001201429:exon17:c.G2408A:p.R803Q,CABIN1:NM_001199281:exon18:c.G2558A:p.R853Q,CABIN1:NM_012295:exon18:c.G2558A:p.R853Q exonic ENSG00000099991 NA nonsynonymous SNV ENSG00000099991:ENST00000405822:exon17:c.G2408A:p.R803Q,ENSG00000099991:ENST00000263119:exon18:c.G2558A:p.R853Q,ENSG00000099991:ENST00000398319:exon18:c.G2558A:p.R853Q Score=557;Name=lod=244 NA 22q11.23 NA NA NA NA rs17854874 0.09 0.09 0.089 0.0613019 0.0974 0.1587 0.0317 0.0038 0.0225 0.1 0.17 0.04 0.002 0.0628 0.17 0.31 T 0.996 D 0.638 P 0.000 D 0.000 P 1.845 L 0.34 T -1.132 T 0.001 T 0.457 3.148 16.53 4.57 2.300 5.903 16.800 3.148196 3.148196 0.08 0.071279 0.015887 NA 0.123 NA 13.6018544 308 15 85448875 85448875 C A exonic SLC28A1 NA nonsynonymous SNV SLC28A1:NM_004213:exon8:c.C709A:p.Q237K exonic ENSG00000156222 NA nonsynonymous SNV ENSG00000156222:ENST00000286749:exon7:c.C709A:p.Q237K,ENSG00000156222:ENST00000538177:exon7:c.C709A:p.Q237K,ENSG00000156222:ENST00000394573:exon8:c.C709A:p.Q237K,ENSG00000156222:ENST00000537216:exon8:c.C709A:p.Q237K,ENSG00000156222:ENST00000537624:exon8:c.C709A:p.Q237K,ENSG00000156222:ENST00000537703:exon8:c.C475A:p.Q159K Score=446;Name=lod=87 NA 15q25.3 NA NA NA NA rs8187758 0.25 0.25 0.229 0.300519 0.2366 0.3075 0.3646 0.1573 0.5072 0.24 0.28 0.35 0.16 0.2738 0.35 0.39 T 0.999 D 0.999 D 0.000 D 0.000 P 1.475 L 2.6 T -0.895 T 0.000 T 0.407 1.292 10.23 4.03 2.240 5.575 11.882 1.292038 1.292038 0.12 0.224006 0.170676 NA 0.29 NA 13.5989274 309 20 10030452 10030452 G A exonic ANKEF1 NA nonsynonymous SNV ANKEF1:NM_198798:exon6:c.G1235A:p.G412E,ANKEF1:NM_022096:exon7:c.G1235A:p.G412E exonic ENSG00000132623 NA nonsynonymous SNV ENSG00000132623:ENST00000378380:exon6:c.G1235A:p.G412E,ENSG00000132623:ENST00000378392:exon7:c.G1235A:p.G412E Score=441;Name=lod=83 NA 20p12.2 NA NA NA NA rs524625 0.18 0.18 0.192 0.195687 0.2604 0.0069 0.1556 0.2799 0.2382 0.26 0.01 0.18 0.25 0.2202 0.26 0.33 T 1.0 D 0.973 D 0.000 D 0.000 P 1.625 L -0.13 T -1.184 T 0.000 T 0.326 2.006 12.66 5.86 2.937 1.841 20.563 2.005879 2.005879 0.26 0.258785 0.262381 NA 0.159 NA 13.5939484 309 19 14038791 14038791 C T exonic CC2D1A NA nonsynonymous SNV CC2D1A:NM_017721:exon23:c.C2402T:p.T801M exonic ENSG00000132024 NA nonsynonymous SNV ENSG00000132024:ENST00000318003:exon23:c.C2402T:p.T801M,ENSG00000132024:ENST00000589606:exon23:c.C2402T:p.T801M Score=405;Name=lod=59 NA 19p13.12 NA NA NA NA rs2305777 0.15 0.15 0.142 0.125 0.2644 0.0615 0.1816 0.0174 0.1524 0.27 0.07 0.2 0.03 0.2104 0.27 0.16 T 1.0 D 0.992 D 0.001 N 0.015 P 1.185 L 1.98 T -1.014 T 0.000 T 0.205 3.106 16.38 5.22 2.447 3.945 13.312 3.105779 3.105779 0.13 0.267198 0.043783 NA 0.21 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116591.2;CLNDSDB=.;CLNDSDBID=. 13.5913354 310 11 108040484 108040484 G T exonic NPAT NA nonsynonymous SNV NPAT:NM_002519:exon15:c.C2997A:p.N999K exonic ENSG00000149308 NA nonsynonymous SNV ENSG00000149308:ENST00000278612:exon15:c.C2997A:p.N999K Score=468;Name=lod=106 NA 11q22.3 NA NA NA NA rs34052882 0.04 0.04 0.027 0.0425319 0.0855 0.0119 0.0403 0.0068 0.0798 0.08 0.0035 0.04 0.01 0.0686 0.095 0.01 D 0.925 P 0.439 B 0.000 D 0.992 D 2.175 M 3.55 T -0.985 T 0.001 T 0.053 3.087 16.31 2.46 0.325 0.827 4.803 3.086852 3.086852 0.03 0.09483 0.018589 NA 0.007 NA 13.5844034 310 7 30795331 30795331 A G exonic INMT NA nonsynonymous SNV INMT:NM_001199219:exon3:c.A653G:p.E218G,INMT:NM_006774:exon3:c.A656G:p.E219G exonic ENSG00000241644 NA nonsynonymous SNV ENSG00000241644:ENST00000013222:exon3:c.A656G:p.E219G,ENSG00000241644:ENST00000409539:exon3:c.A653G:p.E218G Score=376;Name=lod=45 NA 7p14.3 NA Name=p300,CTCF,NRSF NA NA rs2302340 0.39 0.39 0.347 0.329273 0.4294 0.5476 0.5086 0.059 0.2393 0.43 0.55 0.49 0.08 0.404 0.55 0.07 T 0.969 D 0.847 P 0.002 N 0.015 P 2.24 M 2.77 T -0.926 T 0.000 T 0.298 3.191 16.68 3.67 1.635 3.452 10.601 3.190717 3.190717 0.11 0.41593 0.125511 ID=COSM150255;OCCURENCE=1(stomach) 0.261 NA 13.5840034 310 6 117724379 117724379 C T exonic ROS1 NA nonsynonymous SNV ROS1:NM_002944:exon6:c.G500A:p.R167Q exonic ENSG00000047936 NA nonsynonymous SNV ENSG00000047936:ENST00000368508:exon6:c.G500A:p.R167Q,ENSG00000047936:ENST00000368507:exon7:c.G527A:p.R176Q Score=473;Name=lod=112 NA 6q22.1 NA NA NA NA rs2243380 0.06 0.06 0.055 0.0501198 0.0934 0.0407 0.0865 0.0038 0.0521 0.1 0.04 0.09 0.01 0.071 0.1 0.06 T 0.908 P 0.222 B 0.000 D 0.000 P 2.125 M 0.24 T -0.846 T 0.102 T 0.921 3.881 19.72 4.44 2.687 2.643 9.653 3.880534 3.880534 0.1 0.091744 0.01793 NA 0.101 NA 13.5771894 310 1 201934578 201934578 G A exonic TIMM17A NA nonsynonymous SNV TIMM17A:NM_006335:exon5:c.G337A:p.V113I exonic ENSG00000134375 NA nonsynonymous SNV ENSG00000134375:ENST00000367287:exon5:c.G337A:p.V113I Score=524;Name=lod=179 NA 1q32.1 Score=812;Name=V$CDPCR3_01 NA NA NA rs4648 0.06 0.06 0.048 0.0615016 0.0855 0.0377 0.0793 0.0348 0.0849 0.08 0.04 0.08 0.03 0.0794 0.091 0.35 T 0.456 P 0.307 B 0.000 D 0.000 P 0.975 L 1.53 T -1.083 T 0.004 T 0.178 2.963 15.88 5.36 2.663 6.121 16.925 2.962682 2.962682 0.4 0.091279 0.046074 ID=COSM146732;OCCURENCE=1(stomach) 0.138 NA 13.5771544 311 15 22368862 22368862 G A exonic OR4M2 NA nonsynonymous SNV OR4M2:NM_001004719:exon1:c.G287A:p.G96E exonic ENSG00000182974 NA nonsynonymous SNV ENSG00000182974:ENST00000332663:exon1:c.G287A:p.G96E NA NA 15q11.2 NA Name=GATA3_(SC-268) NA NA rs1835183 0.6 0.6 0.576 NA NA NA NA NA NA 0.68 0.6 0.69 0.43 0.6277 0.69 0.04 D 0.97 D 0.735 P 0.000 D 1.000 P 2.42 M 2.95 T -1.046 T 0.000 T 0.18 2.146 13.13 2.5 1.422 0.394 10.808 2.146421 2.146421 0.01 0.635233 0.41035 NA 0.652 NA 13.5704004 311 4 1018705 1018705 C A exonic FGFRL1 NA nonsynonymous SNV FGFRL1:NM_021923:exon6:c.C1085A:p.P362Q,FGFRL1:NM_001004356:exon7:c.C1085A:p.P362Q,FGFRL1:NM_001004358:exon7:c.C1085A:p.P362Q exonic ENSG00000127418 NA nonsynonymous SNV ENSG00000127418:ENST00000264748:exon6:c.C1085A:p.P362Q,ENSG00000127418:ENST00000504138:exon7:c.C1085A:p.P362Q,ENSG00000127418:ENST00000510644:exon7:c.C1085A:p.P362Q,ENSG00000127418:ENST00000398484:exon8:c.C1085A:p.P362Q Score=278;Name=lod=18 NA 4p16.3 Score=840;Name=V$RREB1_01 NA NA NA rs4647930 0.14 0.14 0.153 0.136981 0.2674 0.0823 0.1383 0.031 0.2014 0.27 0.07 0.15 0.03 0.2281 0.27 0.16 T 0.105 B 0.03 B 0.000 D 0.000 P 1.355 L -1.89 D -1.107 T 0.000 T 0.207 2.615 14.7 3.86 0.988 2.056 11.910 2.614939 2.614939 0.35 0.269688 0.074192 NA 0.138 NA 13.5681454 312 22 18905964 18905964 C T exonic PRODH NA nonsynonymous SNV PRODH:NM_001195226:exon11:c.G968A:p.R323H,PRODH:NM_016335:exon12:c.G1292A:p.R431H exonic ENSG00000100033 NA nonsynonymous SNV ENSG00000100033:ENST00000334029:exon11:c.G968A:p.R323H,ENSG00000100033:ENST00000357068:exon11:c.G1292A:p.R431H,ENSG00000100033:ENST00000420436:exon11:c.G968A:p.R323H Score=588;Name=lod=328 NA 22q11.21 NA NA NA NA rs2904552 0.05 0.05 0.041 0.0429313 0.1054 0.001 0.0576 0.0234 0.0378 0.1 NA 0.05 0.02 0.0794 0.1 0.16 T 0.996 D 0.87 P 0.000 N 0.999 D 2.34 M 1.31 T -1.182 T 0.006 T 0.184 3.914 19.91 1.16 0.474 1.178 8.739 3.913871 3.913871 0 0.104651 0.036558 NA 0.022 CLINSIG=pathogenic|other;CLNDBN=Proline_dehydrogenase_deficiency|Schizophrenia_4;CLNREVSTAT=single|single;CLNACC=RCV000004224.1|RCV000004225.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM;CLNDSDBID=C0268529:239500:ORPHA419:61071003|C1833247:600850 13.5438824 312 12 95604290 95604290 T C exonic FGD6 NA nonsynonymous SNV FGD6:NM_018351:exon2:c.A770G:p.Q257R exonic ENSG00000180263 NA nonsynonymous SNV ENSG00000180263:ENST00000343958:exon2:c.A770G:p.Q257R,ENSG00000180263:ENST00000546711:exon2:c.A770G:p.Q257R,ENSG00000180263:ENST00000549499:exon2:c.A770G:p.Q257R NA NA 12q22 Score=784;Name=V$YY1_02 NA NA NA rs10507047 0.14 0.14 0.122 0.128594 0.0775 0.2331 0.1571 0.0983 0.0941 0.08 0.24 0.16 0.1 0.1173 0.24 0.09 T 0.483 P 0.084 B 0.000 D 1.000 P 1.935 M -0.45 T -1.075 T 0.000 T 0.171 0.186 5 4.85 1.093 1.955 7.720 0.185724 NA 0.03 0.097209 0.095778 ID=COSM1128444;OCCURENCE=1(prostate) 0.094 NA 13.5413244 313 9 2718654 2718654 G A exonic KCNV2 NA synonymous SNV KCNV2:NM_133497:exon1:c.G915A:p.V305V exonic ENSG00000168263 NA synonymous SNV ENSG00000168263:ENST00000382082:exon1:c.G915A:p.V305V Score=600;Name=lod=366 NA 9p24.2 Score=1000;Name=V$USF_C NA Name=4 NA rs7859993 0.03 0.03 0.026 0.0265575 0.0467 NA 0.0317 0.0386 0.0133 0.05 NA 0.04 0.04 0.0356 0.05 0.03 D . . . . . . 1.000 D . . . . -0.820 T 0.066 T . 0.858 8.471 4.18 2.362 0.314 11.425 0.85755 NA 0 0.049895 0.040891 NA 0.022 NA 13.5344716 313 9 35712003 35712003 G A exonic TLN1 NA nonsynonymous SNV TLN1:NM_006289:exon28:c.C3680T:p.S1227L exonic ENSG00000137076 NA nonsynonymous SNV ENSG00000137076:ENST00000314888:exon28:c.C3680T:p.S1227L,ENSG00000137076:ENST00000540444:exon28:c.C3680T:p.S1227L Score=615;Name=lod=420 NA 9p13.3 Score=916;Name=V$AP1FJ_Q2 Name=ERalpha_a,AP-2gamma,c-Myc Name=14 NA rs2295795 0.24 0.24 0.217 0.201478 0.2704 0.3383 0.268 0.0197 0.1881 0.26 0.37 0.28 0.02 0.2498 0.37 0.25 T 0.002 B 0.001 B 0.010 N 0.000 P 1.7 L 2.71 T -0.915 T 0.000 T 0.356 2.999 16 4.92 1.466 7.695 16.389 2.999336 2.999336 0.2 0.28 0.06355 NA 0.188 NA 13.5331334 314 10 95441272 95441272 G A exonic FRA10AC1 NA nonsynonymous SNV FRA10AC1:NM_145246:exon11:c.C752T:p.S251F exonic ENSG00000148690 NA nonsynonymous SNV ENSG00000148690:ENST00000359204:exon11:c.C752T:p.S251F,ENSG00000148690:ENST00000371430:exon11:c.C752T:p.S251F,ENSG00000148690:ENST00000394100:exon11:c.C752T:p.S251F,ENSG00000148690:ENST00000536233:exon11:c.C752T:p.S251F Score=403;Name=lod=58 NA 10q23.33 Score=851;Name=V$HAND1E47_01 NA NA NA rs11187583 0.09 0.09 0.067 0.0816693 0.1193 0.0337 0.0965 0.093 0.0665 0.11 0.02 0.13 0.09 0.0932 0.13 0.02 D 0.91 P 0.424 B 0.002 N 0.953 P 1.845 L 1.81 T -1.107 T 0.001 T 0.223 2.734 15.1 5.17 2.572 4.748 15.746 2.73405 2.73405 0.01 0.113282 0.087421 NA 0.058 NA 13.5075514 315 17 21204210 21204210 C T exonic MAP2K3 NA stopgain MAP2K3:NM_002756:exon5:c.C217T:p.Q73X,MAP2K3:NM_145109:exon5:c.C304T:p.Q102X exonic ENSG00000034152 NA stopgain ENSG00000034152:ENST00000342679:exon5:c.C304T:p.Q102X,ENSG00000034152:ENST00000361818:exon5:c.C217T:p.Q73X,ENSG00000034152:ENST00000496046:exon5:c.C304T:p.Q102X,ENSG00000034152:ENST00000526076:exon5:c.C217T:p.Q73X,ENSG00000034152:ENST00000316920:exon6:c.C217T:p.Q73X Score=586;Name=lod=320 NA 17p11.2 NA NA NA NA rs55796947 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4997 0.5 0.74 T . . . . 0.000 D 1.000 A . . . . . . . . . 4.876 27.9 5.08 2.359 5.826 18.482 4.876226 4.876226 0.78 NA NA NA 0.5 NA 13.5003 316 12 48359984 48359984 C T exonic TMEM106C NA nonsynonymous SNV TMEM106C:NM_001143842:exon5:c.C524T:p.S175F,TMEM106C:NM_024056:exon5:c.C524T:p.S175F exonic ENSG00000134291 NA nonsynonymous SNV ENSG00000134291:ENST00000552546:exon4:c.C311T:p.S104F,ENSG00000134291:ENST00000429772:exon5:c.C524T:p.S175F,ENSG00000134291:ENST00000546749:exon5:c.C116T:p.S39F,ENSG00000134291:ENST00000552561:exon5:c.C524T:p.S175F Score=363;Name=lod=40 NA 12q13.11 NA NA NA NA rs2286025 0.19 0.19 0.162 0.168331 0.1014 0.376 0.3372 0.0038 0.1258 0.11 0.39 0.3 0.01 0.1515 0.39 . . 0.985 D 0.831 P 0.000 D 0.000 P 1.59 L 2.03 T -0.903 T 0.000 T 0.494 3.298 17.08 3.47 1.409 3.082 13.808 3.29802 3.29802 0.01 0.099651 0.023831 NA 0.101 NA 13.4807824 316 17 1703543 1703543 G C exonic SMYD4 NA nonsynonymous SNV SMYD4:NM_052928:exon5:c.C1145G:p.P382R exonic ENSG00000186532 NA nonsynonymous SNV ENSG00000186532:ENST00000491788:exon1:c.C557G:p.P186R,ENSG00000186532:ENST00000305513:exon5:c.C1145G:p.P382R NA NA 17p13.3 Score=879;Name=V$OCT1_03 NA NA NA rs3809875 0.28 0.28 0.295 0.279353 0.2773 0.1905 0.2305 0.3926 0.2546 0.25 0.21 0.28 0.41 0.2779 0.41 0.51 T 0.986 D 0.936 D 0.016 N 1.000 P 2.105 M 2.92 T -0.857 T 0.000 T 0.427 1.626 11.4 4.83 2.941 3.500 16.852 1.626284 1.626284 0 0.300349 0.393327 NA 0.391 NA 13.4777844 317 2 88913273 88913273 G C exonic EIF2AK3 NA nonsynonymous SNV EIF2AK3:NM_004836:exon2:c.C407G:p.S136C exonic ENSG00000172071 NA nonsynonymous SNV ENSG00000172071:ENST00000303236:exon2:c.C407G:p.S136C Score=558;Name=lod=247 NA 2p11.2 Score=828;Name=V$RFX1_01 NA NA NA rs867529 0.29 0.29 0.251 0.280551 0.2982 0.4851 0.3343 0.0166 0.3701 0.29 0.48 0.34 0.02 0.2983 0.48 0.17 T 0.002 B 0.003 B 0.000 D 0.000 P 0.995 L 1.51 T -0.898 T 0.000 T 0.25 2.527 14.41 5.38 2.507 5.704 19.138 2.527371 2.527371 0.24 0.270233 0.058103 NA 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116969.2;CLNDSDB=.;CLNDSDBID=. 13.4666004 317 17 65052304 65052304 G A exonic CACNG1 NA nonsynonymous SNV CACNG1:NM_000727:exon4:c.G586A:p.G196S exonic ENSG00000108878 NA nonsynonymous SNV ENSG00000108878:ENST00000226021:exon4:c.G586A:p.G196S Score=272;Name=lod=17 NA 17q24.2 NA NA NA NA rs1799938 0.1 0.1 0.083 0.0944489 0.1322 0.0873 0.17 0.0083 0.1258 0.13 0.09 0.15 0.01 0.1196 0.15 0.03 D 0.956 P 0.368 B 0.000 N 0.000 P 2.665 M -0.5 T -0.912 T 0.003 T 0.278 3.338 17.23 4.03 1.244 7.606 12.718 3.337553 3.337553 0.03 0.115 0.024739 NA 0.13 NA 13.4665334 318 22 30688659 30688659 C T exonic TBC1D10A NA nonsynonymous SNV TBC1D10A:NM_001204240:exon9:c.G1253A:p.R418H,TBC1D10A:NM_031937:exon9:c.G1232A:p.R411H exonic ENSG00000099992 NA nonsynonymous SNV ENSG00000099992:ENST00000215790:exon9:c.G1232A:p.R411H,ENSG00000099992:ENST00000403362:exon9:c.G968A:p.R323H,ENSG00000099992:ENST00000403477:exon9:c.G1253A:p.R418H Score=389;Name=lod=51 NA 22q12.2 NA NA NA NA rs4823086 0.06 0.06 0.078 0.0453275 0.1461 0.001 0.0692 0.0045 0.0256 0.14 0.0017 0.06 0.0041 0.0909 0.14 0.05 D 0.99 D 0.469 P 0.003 N 0.000 P 1.61 L 3.51 T -1.019 T 0.000 T 0.2 2.525 14.4 5.51 2.768 1.726 12.190 2.524925 2.524925 0.14 0.136744 0.026101 NA 0.159 NA 13.4595894 318 2 1499899 1499899 C T exonic TPO NA synonymous SNV TPO:NM_175722:exon10:c.C1626T:p.P542P,TPO:NM_001206745:exon11:c.C1974T:p.P658P,TPO:NM_175719:exon11:c.C1974T:p.P658P,TPO:NM_175721:exon11:c.C2145T:p.P715P,TPO:NM_000547:exon12:c.C2145T:p.P715P,TPO:NM_001206744:exon12:c.C2145T:p.P715P exonic ENSG00000115705 NA synonymous SNV ENSG00000115705:ENST00000469607:exon3:c.C567T:p.P189P,ENSG00000115705:ENST00000422464:exon9:c.C1932T:p.P644P,ENSG00000115705:ENST00000382198:exon10:c.C1626T:p.P542P,ENSG00000115705:ENST00000349624:exon11:c.C1626T:p.P542P,ENSG00000115705:ENST00000382201:exon11:c.C1974T:p.P658P,ENSG00000115705:ENST00000329066:exon12:c.C2145T:p.P715P,ENSG00000115705:ENST00000337415:exon12:c.C2145T:p.P715P,ENSG00000115705:ENST00000345913:exon12:c.C2145T:p.P715P,ENSG00000115705:ENST00000346956:exon12:c.C2145T:p.P715P NA NA 2p25.3 Score=839;Name=V$NFKB_Q6 Name=AP-2gamma Name=7 NA rs732608 0.42 0.42 0.43 0.438898 0.4016 0.4087 0.4265 0.4349 0.5225 0.39 0.43 0.42 0.46 0.4109 0.46 0 D . . . . 0.000 D 0.000 P . . -0.65 T -0.999 T 0.000 T . -1.38 0.025 -5.71 -1.146 -1.559 2.751 -1.379854 NA NA 0.398488 0.441443 ID=COSM1685440;OCCURENCE=1(skin) 0.406 NA 13.4556786 319 2 68607947 68607947 G T exonic PLEK NA nonsynonymous SNV PLEK:NM_002664:exon3:c.G291T:p.K97N exonic ENSG00000115956 NA nonsynonymous SNV ENSG00000115956:ENST00000234313:exon3:c.G291T:p.K97N Score=645;Name=lod=555 NA 2p13.3 NA NA NA NA rs3816281 0.4 0.4 0.381 0.427117 0.2704 0.6885 0.415 0.2958 0.5051 0.28 0.67 0.41 0.27 0.3537 0.67 0.46 T 0.999 D 0.947 D 0.000 D 0.000 P 0.565 N 2.73 T -1.123 T 0.000 T 0.126 3.329 17.2 4.0 1.469 2.172 9.895 3.328837 3.328837 0.41 0.257093 0.288243 NA 0.333 NA 13.4521404 319 19 10224548 10224548 G A exonic P2RY11,PPAN-P2RY11 NA nonsynonymous SNV P2RY11:NM_002566:exon2:c.G259A:p.A87T,PPAN-P2RY11:NM_001040664:exon13:c.G1519A:p.A507T exonic ENSG00000130810,ENSG00000243207,ENSG00000244165 NA nonsynonymous SNV ENSG00000244165:ENST00000321826:exon2:c.G259A:p.A87T,ENSG00000243207:ENST00000393796:exon13:c.G1519A:p.A507T,ENSG00000130810:ENST00000556468:exon13:c.G1519A:p.A507T Score=474;Name=lod=113 NA 19p13.2 NA Name=Pol2,Pol2-4H8 Name=38 NA rs3745601 0.18 0.18 0.147 0.182508 0.1083 0.3304 0.1585 0.1142 0.2157 0.11 0.34 0.15 0.13 0.1592 0.34 0.39 T 0.992 D 0.788 P 0.670 U 0.000 P 1.46 L 1.17 T -0.975 T 0.000 T 0.189 3.239 16.86 3.53 2.411 -0.044 11.812 3.239499 3.239499 0.02 0.113747 0.108715 NA 0.08 NA 13.4520864 320 4 189061106 189061106 G A exonic TRIML1 NA nonsynonymous SNV TRIML1:NM_178556:exon1:c.G394A:p.E132K exonic ENSG00000184108 NA nonsynonymous SNV ENSG00000184108:ENST00000332517:exon1:c.G394A:p.E132K Score=329;Name=lod=29 NA 4q35.2 NA NA Name=4 NA rs13131525 0.29 0.29 0.256 0.255591 0.4672 0.0655 0.4942 0.1157 0.2536 0.47 0.09 0.49 0.11 0.4383 0.5 0.01 D 0.99 D 0.868 P 0.038 N 0.023 P 1.79 L 0.06 T -0.898 T 0.000 T 0.18 2.188 13.27 4.85 2.625 2.607 14.195 2.187911 2.187911 0.15 0.500581 0.178166 NA 0.333 NA 13.4272524 321 14 88407888 88407888 A G exonic GALC NA nonsynonymous SNV GALC:NM_001201401:exon14:c.T1616C:p.I539T,GALC:NM_000153:exon15:c.T1685C:p.I562T,GALC:NM_001201402:exon15:c.T1607C:p.I536T exonic ENSG00000054983 NA nonsynonymous SNV ENSG00000054983:ENST00000555000:exon10:c.T1052C:p.I351T,ENSG00000054983:ENST00000393568:exon14:c.T1616C:p.I539T,ENSG00000054983:ENST00000261304:exon15:c.T1685C:p.I562T,ENSG00000054983:ENST00000393569:exon15:c.T1607C:p.I536T,ENSG00000054983:ENST00000544807:exon15:c.T1517C:p.I506T NA NA 14q31.3 NA NA NA NA rs398607 0.43 0.43 0.45 0.447484 0.4881 0.2312 0.379 0.6452 0.41 0.47 0.22 0.4 0.61 0.4406 0.61 0.03 D 0.656 P 0.345 B 0.002 N 0.992 P 1.905 M -3.33 D -1.005 T 0.000 T 0.483 3.951 20.2 5.73 2.195 9.270 16.026 3.950939 3.950939 0.04 0.481282 0.614208 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078194.1;CLNDSDB=.;CLNDSDBID=. 13.4233514 321 1 151735576 151735576 T C exonic MRPL9 NA nonsynonymous SNV MRPL9:NM_031420:exon2:c.A200G:p.E67G exonic ENSG00000143436 NA nonsynonymous SNV ENSG00000143436:ENST00000368829:exon2:c.A200G:p.E67G,ENSG00000143436:ENST00000368830:exon2:c.A200G:p.E67G NA NA 1q21.3 Score=804;Name=V$CEBP_C Name=CTCF,c-Myc,ELF1_(SC-631),Pol2 Name=39 NA rs7007 0.13 0.13 0.102 0.122404 0.1322 0.1101 0.121 0.1271 0.1196 0.14 0.1 0.14 0.14 0.1392 0.14 0.12 T 0.937 P 0.347 B 0.008 N 0.000 P 1.955 M 1.36 T -1.085 T 0.045 T 0.176 2.528 14.41 3.7 0.861 1.076 8.532 2.5278 2.5278 0.21 0.139567 0.116205 NA 0.051 NA 13.4223664 322 6 38729511 38729511 T C exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon11:c.T1549C:p.Y517H exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon7:c.T898C:p.Y300H,ENSG00000124721:ENST00000359357:exon9:c.T898C:p.Y300H,ENSG00000124721:ENST00000327475:exon10:c.T1513C:p.Y505H,ENSG00000124721:ENST00000449981:exon11:c.T1549C:p.Y517H Score=559;Name=lod=250 NA 6p21.2 Score=835;Name=V$POU6F1_01 NA NA NA rs61748600 0.1 0.1 0.081 0.0838658 0.1372 0.0198 0.2334 0.0469 0.0389 0.14 0.02 0.22 0.05 0.1288 0.22 0.21 T 0.429 B 0.46 P 0.000 D 0.000 P 1.81 L 0.35 T -0.865 T 0.141 T 0.322 4.115 21.2 6.0 2.297 4.287 14.031 4.114753 4.114753 0.1 0.15271 0.063323 NA 0.188 NA 13.4146234 322 17 15496727 15496727 T G exonic CDRT1 NA nonsynonymous SNV CDRT1:NM_006382:exon11:c.A1930C:p.N644H exonic ENSG00000241322 NA nonsynonymous SNV ENSG00000241322:ENST00000354433:exon4:c.A430C:p.N144H,ENSG00000241322:ENST00000395906:exon11:c.A1930C:p.N644H Score=625;Name=lod=464 NA 17p12 NA NA NA NA rs79385100 0.18 0.18 0.135 0.197085 0.1213 0.2331 0.281 0.1936 0.183 0.13 0.22 0.26 0.17 0.1703 0.26 . . 0.995 D 0.908 P . . 0.000 P 1.905 M 2.13 T -1.043 T 0.000 T 0.111 3.416 17.55 3.61 1.781 4.784 9.886 3.41643 3.41643 0.01 0.128256 0.188379 NA 0.181 NA 13.4134774 323 20 42747247 42747247 C T exonic JPH2 NA nonsynonymous SNV JPH2:NM_020433:exon3:c.G1186A:p.A396T exonic ENSG00000149596 NA nonsynonymous SNV ENSG00000149596:ENST00000372980:exon3:c.G1186A:p.A396T Score=510;Name=lod=158 NA 20q13.12 Score=679;Name=V$P53_01 NA NA NA rs3810510 0.24 0.24 0.257 0.270367 0.1163 0.3571 0.1009 0.3933 0.2935 0.11 0.38 0.11 0.38 0.1846 0.38 0.19 T 0.967 D 0.605 P 0.097 N 0.000 P 1.53 L 0.06 T -1.000 T 0.000 T 0.102 4.195 21.7 3.84 1.005 4.050 11.654 4.194721 4.194721 0.12 0.128953 0.330232 ID=COSM1411944;OCCURENCE=1(large_intestine) 0.319 NA 13.4034804 324 3 41952852 41952852 T C exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon11:c.A1042G:p.S348G exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon11:c.A1042G:p.S348G,ENSG00000168038:ENST00000420927:exon11:c.A1042G:p.S348G Score=358;Name=lod=38 NA 3p22.1 NA NA NA NA rs35263917 0.09 0.09 0.094 0.0840655 0.166 0.002 0.0908 0.0635 0.1074 0.18 0.0035 0.09 0.06 0.1244 0.18 0.03 D 0.917 P 0.437 B 0.275 N 0.000 P 2.175 M 0.42 T -1.026 T 0.001 T 0.081 4.164 21.5 5.22 1.979 5.411 14.126 4.16415 4.16415 0.01 0.15022 0.077154 NA 0.13 NA 13.3927134 325 8 8234219 8234219 G A exonic SGK223 NA nonsynonymous SNV SGK223:NM_001080826:exon2:c.C1700T:p.P567L exonic ENSG00000182319 NA nonsynonymous SNV ENSG00000182319:ENST00000330777:exon2:c.C1700T:p.P567L,ENSG00000182319:ENST00000520004:exon3:c.C1700T:p.P567L NA NA 8p23.1 NA Name=Pol2 NA NA rs4840955 0.41 0.41 0.395 0.453275 0.3002 0.6409 0.4323 0.388 0.5204 0.28 0.64 0.36 0.39 0.3855 0.64 0.05 D 0.123 B 0.023 B 0.000 D 0.422 P 1.935 M 0.23 T -0.899 T 0.000 T 0.346 2.44 14.12 4.91 2.446 4.250 7.819 2.440334 2.440334 0.21 0.274096 0.319891 NA NA NA 13.3735374 325 15 43170793 43170793 A G exonic TTBK2 NA nonsynonymous SNV TTBK2:NM_173500:exon2:c.T23C:p.L8P exonic ENSG00000128881 NA nonsynonymous SNV ENSG00000128881:ENST00000267890:exon2:c.T23C:p.L8P,ENSG00000128881:ENST00000562880:exon2:c.T23C:p.L8P,ENSG00000128881:ENST00000564431:exon2:c.T23C:p.L8P,ENSG00000128881:ENST00000566931:exon2:c.T23C:p.L8P,ENSG00000128881:ENST00000567274:exon2:c.T23C:p.L8P,ENSG00000128881:ENST00000567840:exon2:c.T23C:p.L8P Score=544;Name=lod=217 NA 15q15.2 NA Name=TAL1_(SC-12984) Name=11 NA rs6493068 0.48 0.48 0.524 0.514776 0.2803 0.4157 0.2867 0.9592 0.4192 0.29 0.42 0.33 0.95 0.3784 0.95 0.35 T 0.0 B 0.0 B . . 0.001 P -0.11 N 1.21 T -1.008 T 0.000 T 0.364 2.474 14.23 5.29 1.242 5.237 14.210 2.474363 2.474363 0.14 0.303983 0.811663 NA 0.58 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118718.2;CLNDSDB=.;CLNDSDBID=. 13.3706504 326 1 18807938 18807938 C A exonic KLHDC7A NA nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C463A:p.P155T exonic ENSG00000179023 NA nonsynonymous SNV ENSG00000179023:ENST00000400664:exon1:c.C463A:p.P155T NA NA 1p36.13 Score=913;Name=V$SPZ1_01 Name=PAX5-N19,TCF12,ERalpha_a Name=11 NA rs2992754 0.29 0.29 0.263 0.266773 0.1252 0.623 0.2464 0.174 0.1851 0.12 0.62 0.25 0.19 0.2014 0.62 0.47 T 0.845 P 0.421 B 0.242 U 1.000 P 0.345 N -0.84 T -0.985 T 0.000 T 0.031 2.785 15.27 5.4 2.680 2.052 16.241 2.784993 2.784993 0.86 0.143434 0.191679 NA 0.167 NA 13.3632994 326 12 121435427 121435427 G A exonic HNF1A NA nonsynonymous SNV HNF1A:NM_000545:exon7:c.G1460A:p.S487N exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000535955:exon2:c.G176A:p.S59N,ENSG00000135100:ENST00000538626:exon2:c.G206A:p.S69N,ENSG00000135100:ENST00000257555:exon7:c.G1460A:p.S487N,ENSG00000135100:ENST00000400024:exon7:c.G1460A:p.S487N,ENSG00000135100:ENST00000541395:exon7:c.G1460A:p.S487N,ENSG00000135100:ENST00000544413:exon7:c.G1460A:p.S487N Score=586;Name=lod=322 NA 12q24.31 Score=785;Name=V$TAXCREB_02 NA NA NA rs2464196 0.33 0.33 0.309 0.317692 0.3161 0.4732 0.3501 0.112 0.4141 0.31 0.52 0.36 0.11 0.3465 0.52 0.14 T 0.106 B 0.147 B 0.000 N 0.000 P 1.245 L -4.39 D -1.097 T 0.000 T 0.098 1.925 12.39 3.53 0.976 1.527 10.495 1.924644 1.924644 0.06 0.311163 0.122787 NA 0.196 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117227.3|RCV000125374.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.3595704 326 11 64026639 64026639 G A exonic PLCB3 NA nonsynonymous SNV PLCB3:NM_001184883:exon11:c.G1247A:p.R416H,PLCB3:NM_000932:exon13:c.G1448A:p.R483H exonic ENSG00000149782 NA nonsynonymous SNV ENSG00000149782:ENST00000325234:exon11:c.G1247A:p.R416H,ENSG00000149782:ENST00000279230:exon13:c.G1448A:p.R483H,ENSG00000149782:ENST00000540288:exon13:c.G1448A:p.R483H Score=376;Name=lod=45 NA 11q13.1 Score=777;Name=V$E2F_01 NA NA NA rs12146487 0.1 0.1 0.093 0.076877 0.1551 0.0565 0.0836 0.0272 0.0798 0.16 0.07 0.09 0.03 0.1653 0.16 0.14 T 0.983 D 0.782 P 0.001 N 0.000 P 1.245 L 0.62 T -1.100 T 0.001 T 0.361 4.075 21 4.61 2.112 3.459 9.977 4.074922 4.074922 0.01 0.157612 0.05553 NA 0.116 NA 13.3553214 327 15 98513845 98513845 T C exonic ARRDC4 NA nonsynonymous SNV ARRDC4:NM_183376:exon7:c.T1072C:p.S358P exonic ENSG00000140450 NA nonsynonymous SNV ENSG00000140450:ENST00000268042:exon7:c.T1072C:p.S358P,ENSG00000140450:ENST00000538249:exon7:c.T811C:p.S271P Score=499;Name=lod=142 NA 15q26.3 NA NA Name=3 NA rs2130882 0.41 0.41 0.397 0.419129 0.4811 0.5486 0.5043 0.0545 0.6544 0.49 0.56 0.48 0.08 0.5021 0.56 0.49 T 0.998 D 0.878 P 0.000 D 0.002 P 1.345 L 3.05 T -0.998 T 0.000 T 0.304 2.484 14.26 4.35 0.994 3.886 12.081 2.483797 2.483797 0.49 0.507445 0.116295 ID=COSM1375590;OCCURENCE=1(large_intestine) 0.435 NA 13.3426884 328 8 101718987 101718987 G A exonic PABPC1 NA synonymous SNV PABPC1:NM_002568:exon11:c.C1494T:p.A498A exonic ENSG00000070756 NA synonymous SNV ENSG00000070756:ENST00000517990:exon1:c.C21T:p.A7A,ENSG00000070756:ENST00000522658:exon2:c.C135T:p.A45A,ENSG00000070756:ENST00000318607:exon11:c.C1494T:p.A498A,ENSG00000070756:ENST00000519004:exon12:c.C1359T:p.A453A,ENSG00000070756:ENST00000522387:exon12:c.C1398T:p.A466A Score=624;Name=lod=459 NA 8q22.3 Score=824;Name=V$AP4_01 Name=CTCF_(SC-5916) Name=2 Score=67;Name=2348421_0_+_67 rs62513923 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332 NA . . . . . . . . 1.000 D . . . . -0.946 T 0.162 T . 1.419 10.68 -2.54 -0.681 0.353 7.045 1.419134 1.419134 NA NA NA NA NA NA 13.3346666 328 6 136597281 136597281 A T exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon5:c.T1376A:p.L459H,BCLAF1:NM_014739:exon5:c.T1382A:p.L461H exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon3:c.T1376A:p.L459H,ENSG00000029363:ENST00000353331:exon5:c.T1376A:p.L459H,ENSG00000029363:ENST00000527536:exon5:c.T1382A:p.L461H,ENSG00000029363:ENST00000527613:exon5:c.T1382A:p.L461H,ENSG00000029363:ENST00000527759:exon5:c.T1376A:p.L459H,ENSG00000029363:ENST00000529826:exon5:c.T1382A:p.L461H,ENSG00000029363:ENST00000530429:exon5:c.T1376A:p.L459H,ENSG00000029363:ENST00000531224:exon5:c.T1382A:p.L461H,ENSG00000029363:ENST00000532384:exon5:c.T1382A:p.L461H Score=841;Name=lod=3476 NA 6q23.3 NA NA NA NA rs1967445 0.48 0.48 NA NA NA NA NA NA NA 0.49 0.49 0.49 0.45 0.4988 0.49 0.54 T 0.99 D 0.723 P 0.039 N 1.000 D 1.15 L 2.48 T -1.000 T 0.018 T 0.597 1.207 9.902 4.06 0.958 1.632 8.539 1.207187 NA 0.01 NA NA NA 0.486 NA 13.3345334 328 6 136597288 136597288 A C exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon5:c.T1369G:p.Y457D,BCLAF1:NM_014739:exon5:c.T1375G:p.Y459D exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon3:c.T1369G:p.Y457D,ENSG00000029363:ENST00000353331:exon5:c.T1369G:p.Y457D,ENSG00000029363:ENST00000527536:exon5:c.T1375G:p.Y459D,ENSG00000029363:ENST00000527613:exon5:c.T1375G:p.Y459D,ENSG00000029363:ENST00000527759:exon5:c.T1369G:p.Y457D,ENSG00000029363:ENST00000529826:exon5:c.T1375G:p.Y459D,ENSG00000029363:ENST00000530429:exon5:c.T1369G:p.Y457D,ENSG00000029363:ENST00000531224:exon5:c.T1375G:p.Y459D,ENSG00000029363:ENST00000532384:exon5:c.T1375G:p.Y459D Score=841;Name=lod=3476 NA 6q23.3 NA NA NA NA rs1967446 0.48 0.48 0.293 NA NA NA NA NA NA 0.49 0.49 0.49 0.45 0.4989 0.49 0.62 T 0.886 P 0.439 B 0.000 D 1.000 D 0.69 N 2.62 T -0.952 T 0.013 T 0.837 1.736 11.77 5.21 2.111 4.111 14.019 1.736471 1.736471 0.64 NA NA NA 0.486 NA 13.3344334 328 1 144922583 144922583 G A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001002812:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198834:exon7:c.C824T:p.S275L,PDE4DIP:NM_014644:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198832:exon10:c.C1022T:p.S341L exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon3:c.C1313T:p.S438L,ENSG00000178104:ENST00000479408:exon3:c.C185T:p.S62L,ENSG00000178104:ENST00000529945:exon3:c.C1313T:p.S438L,ENSG00000178104:ENST00000369349:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000369351:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000369354:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000369356:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000313382:exon10:c.C1022T:p.S341L,ENSG00000178104:ENST00000369359:exon10:c.C1235T:p.S412L,ENSG00000178104:ENST00000530740:exon10:c.C1235T:p.S412L Score=471;Name=lod=109 NA 1q21.1 Score=874;Name=V$BACH2_01 NA NA NA rs1359300 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.01 D 0.723 P 0.172 B . . 1.000 D 0.69 N 4.82 T -0.958 T 0.009 T 0.134 2.115 13.03 3.2 0.896 2.152 4.776 2.115089 2.115089 0.07 NA NA NA 0.5 NA 13.3333334 328 10 3141542 3141542 G A exonic PFKP NA nonsynonymous SNV PFKP:NM_002627:exon3:c.G262A:p.V88M,PFKP:NM_001242339:exon4:c.G158A:p.S53N exonic ENSG00000067057 NA nonsynonymous SNV ENSG00000067057:ENST00000381125:exon3:c.G262A:p.V88M,ENSG00000067057:ENST00000407806:exon3:c.G148A:p.V50M,ENSG00000067057:ENST00000421751:exon3:c.G148A:p.V50M,ENSG00000067057:ENST00000381075:exon4:c.G158A:p.S53N Score=476;Name=lod=115 NA 10p15.2 NA Name=STAT3,CEBPB Name=93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07 T 0.063 B 0.069 B 0.010 N 1.000 D -0.255 N -1.35 T -0.879 T 0.222 T 0.279 3.061 16.22 0.519 0.060 2.311 10.329 3.061138 3.061138 0.42 NA NA NA NA NA 13.3333334 328 12 57863479 57863479 C G exonic GLI1 NA nonsynonymous SNV GLI1:NM_001160045:exon9:c.C1190G:p.T397S,GLI1:NM_001167609:exon10:c.C1451G:p.T484S,GLI1:NM_005269:exon11:c.C1574G:p.T525S exonic ENSG00000111087 NA nonsynonymous SNV ENSG00000111087:ENST00000528467:exon9:c.C1451G:p.T484S,ENSG00000111087:ENST00000543426:exon9:c.C1190G:p.T397S,ENSG00000111087:ENST00000546141:exon10:c.C1451G:p.T484S,ENSG00000111087:ENST00000228682:exon11:c.C1574G:p.T525S Score=461;Name=lod=100 NA 12q13.3 Score=688;Name=V$BRACH_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 T 0.005 B 0.031 B 0.039 N 0.995 N -0.235 N 2.79 T -0.942 T 0.013 T 0.278 1.048 9.281 3.73 1.296 1.427 6.867 1.048264 NA 0.23 NA NA NA NA NA 13.3333334 328 13 75900394 75900394 C T exonic TBC1D4 NA nonsynonymous SNV TBC1D4:NM_014832:exon10:c.G1972A:p.D658N exonic ENSG00000136111 NA nonsynonymous SNV ENSG00000136111:ENST00000413735:exon5:c.G508A:p.D170N,ENSG00000136111:ENST00000377625:exon10:c.G1972A:p.D658N,ENSG00000136111:ENST00000377636:exon10:c.G1972A:p.D658N,ENSG00000136111:ENST00000431480:exon10:c.G1972A:p.D658N Score=300;Name=lod=22 NA 13q22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55 T 0.015 B 0.009 B 0.089 N 1.000 D 1.175 L 0.91 T -1.077 T 0.079 T 0.033 2.431 14.09 4.64 1.446 2.833 11.345 2.431135 2.431135 0.4 NA NA NA NA NA 13.3333334 328 17 77078115 77078115 C A exonic ENGASE NA nonsynonymous SNV ENGASE:NM_001042573:exon7:c.C1008A:p.N336K exonic ENSG00000167280 NA nonsynonymous SNV ENSG00000167280:ENST00000539857:exon6:c.C450A:p.N150K,ENSG00000167280:ENST00000579016:exon7:c.C1008A:p.N336K NA NA 17q25.3 Score=851;Name=V$ARNT_01 Name=Egr-1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.068 B 0.038 B 0.046 N 0.999 N 1.155 L . . -1.057 T 0.046 T 0.187 -0.085 3.584 -7.57 -1.356 -3.209 1.142 -0.085074 NA 0.23 NA NA NA NA NA 13.3333334 328 6 32036743 32036743 C T exonic TNXB NA nonsynonymous SNV TNXB:NM_019105:exon16:c.G5758A:p.G1920R exonic ENSG00000168477 NA nonsynonymous SNV ENSG00000168477:ENST00000375244:exon16:c.G5758A:p.G1920R,ENSG00000168477:ENST00000375247:exon16:c.G5758A:p.G1920R NA NA 6p21.33 Score=793;Name=V$CDPCR3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008655 NA 0.14 T 0.926 P 0.638 P 0.007 N 0.999 N 1.65 L 3.64 T -0.979 T 0.010 T 0.261 2.557 14.51 4.07 1.226 1.769 8.106 2.557304 2.557304 0 NA NA NA NA NA 13.3333247 328 12 129293353 129293353 A G exonic SLC15A4 NA nonsynonymous SNV SLC15A4:NM_145648:exon5:c.T1238C:p.M413T exonic ENSG00000139370 NA nonsynonymous SNV ENSG00000139370:ENST00000544112:exon2:c.T227C:p.M76T,ENSG00000139370:ENST00000266771:exon5:c.T1238C:p.M413T,ENSG00000139370:ENST00000376740:exon5:c.T338C:p.M113T Score=498;Name=lod=141 NA 12q24.32 Score=796;Name=V$PAX2_01 NA NA NA rs189625027 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0000165 0.0028 0.31 T 0.001 B 0.004 B 0.000 N 1.000 D 1.35 L 3.85 T -1.020 T 0.124 T 0.629 2.907 15.69 4.32 0.983 6.555 11.840 2.906903 2.906903 0.27 NA NA NA NA NA 13.3333169 328 17 6483131 6483131 T C exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon19:c.A2840G:p.Q947R exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000589033:exon12:c.A1208G:p.Q403R,ENSG00000198920:ENST00000542606:exon17:c.A1943G:p.Q648R,ENSG00000198920:ENST00000572370:exon18:c.A1943G:p.Q648R,ENSG00000198920:ENST00000361413:exon19:c.A2840G:p.Q947R Score=313;Name=lod=25 NA 17p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001657 NA 0.31 T 0.008 B 0.009 B 0.001 N 0.592 D 1.5 L 0.97 T -0.983 T 0.082 T 0.271 3.359 17.32 3.22 1.008 2.671 7.931 3.35874 3.35874 0.15 NA NA NA NA NA 13.3333168 328 20 51870120 51870120 A T exonic TSHZ2 NA nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.A114T:p.Q38H,TSHZ2:NM_173485:exon2:c.A123T:p.Q41H exonic ENSG00000182463 NA nonsynonymous SNV ENSG00000182463:ENST00000329613:exon2:c.A114T:p.Q38H,ENSG00000182463:ENST00000371497:exon2:c.A123T:p.Q41H,ENSG00000182463:ENST00000603338:exon2:c.A114T:p.Q38H NA NA 20q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001662 NA 0.04 D 0.001 B 0.001 B 0.000 D 0.998 N 1.61 L 2.49 T -1.088 T 0.026 T 0.202 0.315 5.706 -6.08 -1.856 -1.194 11.778 0.314831 NA 0.02 NA NA NA NA NA 13.3333168 328 17 10547753 10547753 G A exonic MYH3 NA nonsynonymous SNV MYH3:NM_002470:exon14:c.C1325T:p.T442I exonic ENSG00000109063 NA nonsynonymous SNV ENSG00000109063:ENST00000226209:exon13:c.C1325T:p.T442I,ENSG00000109063:ENST00000583535:exon14:c.C1325T:p.T442I Score=521;Name=lod=174 NA 17p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003295 NA 0.27 T 0.003 B 0.008 B . . 0.646 N 0.91 L -2.28 D -0.326 T 0.453 T 0.18 1.496 10.95 4.5 2.496 3.328 11.758 1.495821 1.495821 NA NA NA NA NA NA 13.3333004 328 X 2833643 2833643 C A exonic ARSD NA nonsynonymous SNV ARSD:NM_001669:exon6:c.G954T:p.Q318H exonic ENSG00000006756 NA nonsynonymous SNV ENSG00000006756:ENST00000381154:exon6:c.G954T:p.Q318H NA NA Xp22.33 NA NA Name=4 NA rs115332247 NA NA 0.06598 NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0.06 T 0.005 B 0.02 B 0.914 N 1.000 P 1.39 L -3.26 D -0.434 T 0.591 D 0.062 0.787 8.15 -6.79 -1.408 -2.691 2.444 0.787191 NA 0.06 NA NA ID=COSM1467377;OCCURENCE=1(large_intestine) NA NA 13.3332334 328 6 17794837 17794837 T C exonic KIF13A NA nonsynonymous SNV KIF13A:NM_001105566:exon24:c.A3041G:p.D1014G,KIF13A:NM_001105567:exon24:c.A3041G:p.D1014G,KIF13A:NM_001105568:exon24:c.A3041G:p.D1014G,KIF13A:NM_022113:exon24:c.A3041G:p.D1014G exonic ENSG00000137177 NA nonsynonymous SNV ENSG00000137177:ENST00000502297:exon1:c.A92G:p.D31G,ENSG00000137177:ENST00000506044:exon2:c.A221G:p.D74G,ENSG00000137177:ENST00000259711:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378814:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378816:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378826:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378843:exon24:c.A3041G:p.D1014G Score=456;Name=lod=95 NA 6p22.3 NA NA NA NA rs201793412 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 0.13 T 0.14 B 0.247 B 0.000 D 1.000 D 1.895 L 1.21 T -0.649 T 0.257 T 0.94 3.336 17.23 5.55 2.233 5.030 15.984 3.336158 3.336158 0.07 0.000242 0 NA NA NA 13.3329914 328 12 2907914 2907914 G A exonic FKBP4 NA nonsynonymous SNV FKBP4:NM_002014:exon4:c.G436A:p.E146K exonic ENSG00000004478 NA nonsynonymous SNV ENSG00000004478:ENST00000001008:exon4:c.G436A:p.E146K Score=389;Name=lod=51 NA 12p13.33 NA NA NA NA rs191293085 0.0009 0.0009 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0000906 0.0028 0.32 T 0.307 B 0.065 B 0.000 D 1.000 D 0.68 N 0.56 T -1.024 T 0.105 T 0.666 3.726 18.92 4.87 2.242 9.383 16.577 3.725768 3.725768 0.54 NA NA NA NA NA 13.3312428 328 14 64604650 64604650 A G exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon79:c.A14792G:p.K4931R,SYNE2:NM_182914:exon79:c.A14792G:p.K4931R exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000394768:exon27:c.A3947G:p.K1316R,ENSG00000054654:ENST00000555002:exon30:c.A4694G:p.K1565R,ENSG00000054654:ENST00000554584:exon77:c.A14543G:p.K4848R,ENSG00000054654:ENST00000344113:exon79:c.A14792G:p.K4931R,ENSG00000054654:ENST00000358025:exon79:c.A14792G:p.K4931R,ENSG00000054654:ENST00000357395:exon80:c.A3947G:p.K1316R Score=444;Name=lod=85 NA 14q23.2 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916) Name=50 NA rs147640636 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0014 0.41 T 0.282 B 0.159 B 0.006 N 1.000 D 1.295 L 1.36 T -1.101 T 0.068 T 0.143 2.214 13.36 2.12 0.117 2.659 9.838 2.214493 2.214493 0.12 0.001395 0.000227 NA NA NA 13.3312384 328 7 29966229 29966229 T C exonic SCRN1 NA nonsynonymous SNV SCRN1:NM_001145515:exon6:c.A721G:p.I241V,SCRN1:NM_001145513:exon7:c.A925G:p.I309V,SCRN1:NM_001145514:exon7:c.A985G:p.I329V,SCRN1:NM_014766:exon7:c.A925G:p.I309V exonic ENSG00000136193 NA nonsynonymous SNV ENSG00000136193:ENST00000416113:exon4:c.A403G:p.I135V,ENSG00000136193:ENST00000409497:exon6:c.A925G:p.I309V,ENSG00000136193:ENST00000425819:exon6:c.A721G:p.I241V,ENSG00000136193:ENST00000242059:exon7:c.A925G:p.I309V,ENSG00000136193:ENST00000426154:exon7:c.A925G:p.I309V,ENSG00000136193:ENST00000434476:exon7:c.A985G:p.I329V Score=545;Name=lod=218 NA 7p14.3 NA NA NA NA rs151249549 0.0009 0.0009 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA 0.002 0.0012 0.002 . . 0.103 B 0.031 B 0.000 D 1.000 D 1.63 L 3.18 T -1.086 T 0.036 T 0.142 1.872 12.22 5.68 2.185 3.404 14.796 1.872421 1.872421 0.08 0.001395 0.000908 NA NA NA 13.3297384 328 15 52643564 52643564 G A exonic MYO5A NA nonsynonymous SNV MYO5A:NM_000259:exon28:c.C3736T:p.R1246C,MYO5A:NM_001142495:exon28:c.C3736T:p.R1246C exonic ENSG00000197535 NA nonsynonymous SNV ENSG00000197535:ENST00000399228:exon1:c.C115T:p.R39C,ENSG00000197535:ENST00000399229:exon1:c.C16T:p.R6C,ENSG00000197535:ENST00000568914:exon1:c.C115T:p.R39C,ENSG00000197535:ENST00000356338:exon28:c.C3736T:p.R1246C,ENSG00000197535:ENST00000358212:exon28:c.C3736T:p.R1246C,ENSG00000197535:ENST00000399231:exon28:c.C3736T:p.R1246C,ENSG00000197535:ENST00000399233:exon28:c.C3736T:p.R1246C,ENSG00000197535:ENST00000553916:exon28:c.C3736T:p.R1246C Score=378;Name=lod=46 NA 15q21.2 NA Name=CEBPB NA NA rs1058219 0.17 0.17 0.149 0.148562 0.1819 0.1716 0.1499 0.0991 0.1564 0.18 0.2 0.19 0.1 0.1543 0.21 0.01 D 0.997 D 0.648 P 0.006 N 0.000 P 0 N 3.53 T -1.013 T 0.000 T 0.29 3.709 18.84 2.26 0.734 2.503 8.587 3.70896 3.70896 0 0.167543 0.102475 NA 0.174 NA 13.3295904 328 18 215504 215504 G A exonic THOC1 NA nonsynonymous SNV THOC1:NM_005131:exon20:c.C1603T:p.P535S exonic ENSG00000079134 NA nonsynonymous SNV ENSG00000079134:ENST00000261600:exon20:c.C1603T:p.P535S Score=645;Name=lod=556 NA 18p11.32 NA NA NA NA rs138671246 0.0009 0.0009 0.001 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0014 0.0028 0.59 T 0.029 B 0.022 B 0.000 D 1.000 D 0.665 N . . -0.940 T 0.157 T 0.489 1.903 12.32 5.44 2.560 6.757 19.261 1.902522 1.902522 NA 0.001954 0.00027 NA NA NA 13.3289794 328 5 110096992 110096992 A G exonic SLC25A46 NA nonsynonymous SNV SLC25A46:NM_138773:exon8:c.A767G:p.K256R exonic ENSG00000164209 NA nonsynonymous SNV ENSG00000164209:ENST00000509432:exon4:c.A128G:p.K43R,ENSG00000164209:ENST00000504098:exon7:c.A329G:p.K110R,ENSG00000164209:ENST00000355943:exon8:c.A767G:p.K256R,ENSG00000164209:ENST00000509442:exon8:c.A494G:p.K165R,ENSG00000164209:ENST00000513807:exon8:c.A281G:p.K94R Score=502;Name=lod=146 NA 5q22.1 NA NA NA NA rs141213807 0.0005 0.0005 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA NA 0.002 0.003 0.38 T 0.008 B 0.009 B 0.000 D 1.000 D 1.32 L -1.15 T -0.343 T 0.471 T 0.191 1.528 11.06 5.96 2.284 5.902 16.445 1.528277 1.528277 0.67 0.003024 0.001135 NA NA NA 13.3273094 329 16 1308156 1308156 G A exonic TPSD1 NA nonsynonymous SNV TPSD1:NM_012217:exon4:c.G617A:p.G206D exonic ENSG00000095917 NA nonsynonymous SNV ENSG00000095917:ENST00000211076:exon4:c.G617A:p.G206D,ENSG00000095917:ENST00000397534:exon5:c.G596A:p.G199D NA NA 16p13.3 NA NA NA NA rs139855296 0.0014 0.0014 0.003 0.000998403 0.005 NA NA NA NA 0.004 NA NA NA 0.0014 0.004 0.55 T 0.607 P 0.505 P 0.000 D 1.000 N 1.41 L -2.42 D -0.420 T 0.562 D 0.558 1.422 10.69 2.09 1.537 -0.018 8.856 1.422312 1.422312 0.35 0.002094 0.000456 NA NA NA 13.3248394 329 14 92253952 92253952 T G exonic TC2N NA nonsynonymous SNV TC2N:NM_001128595:exon10:c.A1067C:p.E356A,TC2N:NM_001128596:exon10:c.A1067C:p.E356A,TC2N:NM_152332:exon10:c.A1067C:p.E356A exonic ENSG00000165929 NA nonsynonymous SNV ENSG00000165929:ENST00000556590:exon4:c.A323C:p.E108A,ENSG00000165929:ENST00000556018:exon9:c.A875C:p.E292A,ENSG00000165929:ENST00000340892:exon10:c.A1067C:p.E356A,ENSG00000165929:ENST00000360594:exon10:c.A1067C:p.E356A,ENSG00000165929:ENST00000435962:exon10:c.A1067C:p.E356A Score=474;Name=lod=113 NA 14q32.12 NA NA NA NA rs144110131 0.0009 0.0009 0.001 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA NA 0.0023 0.0055 0.21 T 0.874 P 0.641 P 0.000 D 0.923 N 0.345 N 3.42 T -1.099 T 0.026 T 0.475 2.582 14.59 5.73 2.308 6.602 16.312 2.581856 2.581856 0.2 0.005465 0 NA NA NA 13.3235684 329 11 116728630 116728630 G C exonic SIK3 NA nonsynonymous SNV SIK3:NM_025164:exon20:c.C3233G:p.P1078R exonic ENSG00000160584 NA nonsynonymous SNV ENSG00000160584:ENST00000375288:exon19:c.C1238G:p.P413R,ENSG00000160584:ENST00000292055:exon20:c.C3233G:p.P1078R,ENSG00000160584:ENST00000375300:exon20:c.C3407G:p.P1136R,ENSG00000160584:ENST00000446921:exon20:c.C3227G:p.P1076R,ENSG00000160584:ENST00000542607:exon20:c.C3053G:p.P1018R,ENSG00000160584:ENST00000434315:exon21:c.C2750G:p.P917R Score=532;Name=lod=193 NA 11q23.3 NA NA NA NA rs12225230 0.15 0.15 0.136 0.170727 0.1511 0.0972 0.1902 0.1513 0.2791 0.14 0.11 0.19 0.18 0.187 0.19 0 D 0.967 D 0.663 P 0.001 U 0.001 P 0.805 L 1.37 T -1.055 T 0.001 T 0.425 1.653 11.49 5.54 2.585 5.065 13.745 1.65334 1.65334 0 0.173184 0.136983 NA 0.065 NA 13.3220494 329 16 10775932 10775932 A G exonic TEKT5 NA nonsynonymous SNV TEKT5:NM_144674:exon4:c.T781C:p.C261R exonic ENSG00000153060 NA nonsynonymous SNV ENSG00000153060:ENST00000576638:exon3:c.T100C:p.C34R,ENSG00000153060:ENST00000283025:exon4:c.T781C:p.C261R Score=300;Name=lod=22 NA 16p13.13 NA Name=HNF4A_(H-171),HNF4G_(SC-6558) NA NA rs138988373 0.0018 0.0018 0.002 0.00219649 0.006 NA 0.0058 NA 0.001 0.004 NA 0.0028 NA 0.0025 0.004 0.53 T 0.0 B 0.0 B 0.038 N 0.931 D -1.28 N 4.43 T -0.868 T 0.003 T 0.387 -0.58 1.395 3.88 1.889 1.120 5.513 -0.579606 NA 0.41 0.003372 0.000683 NA NA NA 13.3214614 329 16 10788200 10788200 C G exonic TEKT5 NA nonsynonymous SNV TEKT5:NM_144674:exon1:c.G531C:p.E177D exonic ENSG00000153060 NA nonsynonymous SNV ENSG00000153060:ENST00000283025:exon1:c.G531C:p.E177D Score=429;Name=lod=74 NA 16p13.13 NA NA NA NA rs148185751 0.0023 0.0023 0 0.00259585 0.006 NA 0.0058 0.0015 0.001 0.004 NA 0.0028 0.002 0.0027 0.004 0.02 D 0.319 B 0.364 B 0.003 N 0.997 D 2.81 M 3.97 T -1.173 T 0.028 T 0.49 1.905 12.33 4.68 1.368 0.283 8.029 1.905042 1.905042 0.01 0.003372 0.001138 NA NA NA 13.3212614 329 8 39695677 39695677 C A exonic ADAM2 NA nonsynonymous SNV ADAM2:NM_001464:exon1:c.G28T:p.G10W exonic ENSG00000104755 NA nonsynonymous SNV ENSG00000104755:ENST00000265708:exon1:c.G28T:p.G10W,ENSG00000104755:ENST00000347580:exon1:c.G28T:p.G10W,ENSG00000104755:ENST00000379853:exon1:c.G28T:p.G10W,ENSG00000104755:ENST00000521880:exon1:c.G28T:p.G10W NA NA 8p11.22 NA NA NA NA rs34800519 0.02 0.02 0.032 0.0263578 0.003 NA 0.0101 0.0923 NA 0.004 NA 0.01 0.1 0.0075 0.1 . . 1.0 D 0.999 D . . 1.000 N 2.52 M 5.24 T -1.098 T 0.001 T 0.43 2.752 15.16 3.26 2.114 1.104 10.285 2.751827 2.751827 0 0.00186 0.067862 NA 0.007 NA 13.3209734 329 16 2296927 2296927 G A exonic ECI1 NA nonsynonymous SNV ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M exonic ENSG00000167969 NA nonsynonymous SNV ENSG00000167969:ENST00000566379:exon2:c.C50T:p.T17M,ENSG00000167969:ENST00000301729:exon3:c.C227T:p.T76M,ENSG00000167969:ENST00000562238:exon3:c.C227T:p.T76M,ENSG00000167969:ENST00000570258:exon3:c.C50T:p.T17M Score=304;Name=lod=23 NA 16p13.3 NA NA NA NA rs112729404 0.0005 0.0005 NA 0.00658946 0.002 0.001 NA NA 0.0307 0.0013 NA NA NA 0.0083 0.0042 0.1 T 0.962 D 0.344 B 0.000 N 1.000 D 2.01 M -0.37 T -0.712 T 0.228 T 0.795 1.171 9.763 3.22 0.761 6.033 9.082 1.17056 NA 0.01 0.004186 0.000227 NA NA NA 13.3188474 329 2 136620315 136620315 T C exonic MCM6 NA nonsynonymous SNV MCM6:NM_005915:exon8:c.A1082G:p.N361S exonic ENSG00000076003 NA nonsynonymous SNV ENSG00000076003:ENST00000264156:exon8:c.A1082G:p.N361S Score=698;Name=lod=919 NA 2q21.3 NA NA NA NA rs141448886 0.0027 0.0027 0.001 0.00239617 0.008 0.001 0.0014 NA 0.002 0.01 0.0017 NA NA 0.004 0.01 0.24 T 0.399 B 0.34 B 0.000 D 1.000 D 1.32 L 2.8 T -1.082 T 0.026 T 0.235 4.198 21.8 5.27 1.973 7.589 15.208 4.19751 4.19751 0.05 0.004535 0.000908 NA NA NA 13.3167984 330 11 65314277 65314277 G C exonic LTBP3 NA nonsynonymous SNV LTBP3:NM_001130144:exon15:c.C2222G:p.A741G,LTBP3:NM_001164266:exon15:c.C1871G:p.A624G,LTBP3:NM_021070:exon15:c.C2222G:p.A741G exonic ENSG00000168056 NA nonsynonymous SNV ENSG00000168056:ENST00000527339:exon2:c.C242G:p.A81G,ENSG00000168056:ENST00000532932:exon4:c.C512G:p.A171G,ENSG00000168056:ENST00000536982:exon10:c.C1100G:p.A367G,ENSG00000168056:ENST00000301873:exon15:c.C2222G:p.A741G,ENSG00000168056:ENST00000322147:exon15:c.C2222G:p.A741G,ENSG00000168056:ENST00000530866:exon16:c.C1955G:p.A652G Score=439;Name=lod=81 NA 11q13.1 Score=987;Name=V$SP1_Q6 Name=USF-1,IRF1,Pbx3,E2F6_(H-50),TAF1,SP1 Name=71 NA rs148780991 0.01 0.01 NA 0.00878594 0.0109 0.002 0.0101 0.0182 NA 0.01 NA 0.01 0.01 0.0074 0.015 0.36 T 0.234 B 0.11 B 0.001 N 1.000 N -0.39 N 1.95 T -1.000 T 0.011 T 0.172 1.888 12.27 4.08 1.109 0.698 9.287 1.887566 1.887566 0.21 0.007009 0.015539 NA NA NA 13.3080244 331 15 41819716 41819716 C T exonic RPAP1 NA nonsynonymous SNV RPAP1:NM_015540:exon12:c.G1516A:p.E506K exonic ENSG00000103932 NA nonsynonymous SNV ENSG00000103932:ENST00000304330:exon12:c.G1516A:p.E506K,ENSG00000103932:ENST00000561603:exon12:c.G1516A:p.E506K,ENSG00000103932:ENST00000562303:exon12:c.G1516A:p.E506K Score=432;Name=lod=76 NA 15q15.1 NA NA NA NA rs1200345 0.51 0.51 0.514 0.509984 0.5179 0.3512 0.5692 0.6437 0.4427 0.53 0.34 0.56 0.65 0.5073 0.65 0.06 T 0.995 D 0.454 P 0.000 D 0.000 P 2.62 M -0.2 T -0.875 T 0.000 T 0.322 4.643 25.5 5.37 2.692 5.647 18.251 4.642865 4.642865 0.01 0.503721 0.63232 ID=COSM147884;OCCURENCE=1(stomach) 0.493 NA 13.3044124 331 2 179393691 179393691 G A exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon188:c.C79592T:p.T26531I,TTN:NM_133432:exon189:c.C79967T:p.T26656I,TTN:NM_133437:exon189:c.C80168T:p.T26723I,TTN:NM_133378:exon309:c.C99083T:p.T33028I,TTN:NM_001256850:exon310:c.C101864T:p.T33955I,TTN:NM_001267550:exon360:c.C106787T:p.T35596I exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000460472:exon188:c.C79592T:p.T26531I,ENSG00000155657:ENST00000342175:exon189:c.C80168T:p.T26723I,ENSG00000155657:ENST00000359218:exon189:c.C79967T:p.T26656I,ENSG00000155657:ENST00000342992:exon309:c.C99083T:p.T33028I,ENSG00000155657:ENST00000591111:exon310:c.C101864T:p.T33955I,ENSG00000155657:ENST00000589042:exon360:c.C106787T:p.T35596I Score=510;Name=lod=157 NA 2q31.2 NA NA NA NA rs55842557 0.01 0.01 0.004 0.00379393 0.0159 NA 0.0043 NA NA 0.02 NA 0.01 NA 0.0098 0.02 0 D 0.257 B 0.068 B . . 1.000 N 0.695 N 0.25 T -0.944 T 0.084 T 0.158 2.625 14.74 4.74 2.677 3.452 13.248 2.624609 2.624609 NA 0.006818 0.000793 NA NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040981.1|RCV000126004.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.3008154 331 10 72517830 72517830 G A exonic ADAMTS14 NA nonsynonymous SNV ADAMTS14:NM_080722:exon20:c.G3050A:p.S1017N,ADAMTS14:NM_139155:exon20:c.G3059A:p.S1020N exonic ENSG00000138316 NA nonsynonymous SNV ENSG00000138316:ENST00000373207:exon20:c.G3050A:p.S1017N,ENSG00000138316:ENST00000373208:exon20:c.G3059A:p.S1020N Score=410;Name=lod=62 NA 10q22.1 Score=782;Name=V$MYOGNF1_01 Name=CCNT2 NA NA rs10999516 0.23 0.23 0.213 0.213458 0.1849 0.37 0.2262 0.1543 0.1524 0.19 0.37 0.19 0.15 0.1882 0.37 0.7 T 0.464 P 0.288 B 0.057 N 0.952 P -0.785 N 0.65 T -0.978 T 0.000 T 0.014 1.703 11.65 3.39 2.250 2.373 5.864 1.702981 1.702981 0.32 0.16093 0.174535 NA 0.261 NA 13.2993034 331 8 128428823 128428823 G C exonic POU5F1B NA nonsynonymous SNV POU5F1B:NM_001159542:exon1:c.G712C:p.E238Q exonic ENSG00000212993 NA nonsynonymous SNV ENSG00000212993:ENST00000391675:exon1:c.G712C:p.E238Q,ENSG00000212993:ENST00000465342:exon2:c.G712C:p.E238Q Score=251;Name=lod=14 NA 8q24.21 NA NA NA NA rs7002225 0.5 0.5 0.448 0.484026 0.5239 0.5982 0.6023 0.2428 0.5675 0.52 0.62 0.57 0.25 0.5106 0.62 0.06 T 1.0 D 1.0 D 0.000 D 0.000 P 2.89 M -3.95 D -1.005 T 0.000 T 0.29 2.881 15.6 0.201 0.077 6.555 5.455 2.880629 2.880629 0 NA NA NA 0.507 NA 13.2988334 331 2 71740897 71740897 C A exonic DYSF NA nonsynonymous SNV DYSF:NM_001130455:exon6:c.C512A:p.A171E,DYSF:NM_001130976:exon6:c.C509A:p.A170E,DYSF:NM_001130977:exon6:c.C509A:p.A170E,DYSF:NM_001130978:exon6:c.C509A:p.A170E,DYSF:NM_001130983:exon6:c.C512A:p.A171E,DYSF:NM_001130984:exon6:c.C512A:p.A171E,DYSF:NM_001130986:exon6:c.C512A:p.A171E,DYSF:NM_003494:exon6:c.C509A:p.A170E,DYSF:NM_001130979:exon7:c.C602A:p.A201E,DYSF:NM_001130980:exon7:c.C602A:p.A201E,DYSF:NM_001130981:exon7:c.C602A:p.A201E,DYSF:NM_001130982:exon7:c.C605A:p.A202E,DYSF:NM_001130985:exon7:c.C605A:p.A202E,DYSF:NM_001130987:exon7:c.C605A:p.A202E exonic ENSG00000135636 NA nonsynonymous SNV ENSG00000135636:ENST00000258104:exon6:c.C509A:p.A170E,ENSG00000135636:ENST00000394120:exon6:c.C512A:p.A171E,ENSG00000135636:ENST00000409366:exon6:c.C512A:p.A171E,ENSG00000135636:ENST00000409744:exon6:c.C512A:p.A171E,ENSG00000135636:ENST00000429174:exon6:c.C509A:p.A170E,ENSG00000135636:ENST00000409582:exon7:c.C602A:p.A201E,ENSG00000135636:ENST00000409651:exon7:c.C605A:p.A202E,ENSG00000135636:ENST00000409762:exon7:c.C602A:p.A201E,ENSG00000135636:ENST00000410020:exon7:c.C605A:p.A202E,ENSG00000135636:ENST00000410041:exon7:c.C605A:p.A202E,ENSG00000135636:ENST00000413539:exon7:c.C602A:p.A201E Score=452;Name=lod=92 NA 2p13.2 NA Name=ZNF263 NA NA rs34999029 0.01 0.01 0.006 0.00419329 0.0109 NA 0.0101 0.0008 0.002 0.01 NA 0.01 NA 0.0098 0.022 0.99 T 0.187 B 0.278 B 0.032 N 0.969 N 0.55 N -1.61 D -0.847 T 0.208 T 0.323 0.611 7.291 3.5 1.142 0.098 12.783 0.611124 NA 0.76 0.015349 0.000681 NA 0.014 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080300.3;CLNDSDB=.;CLNDSDBID=. 13.2972844 332 16 82182418 82182418 T C exonic MPHOSPH6 NA nonsynonymous SNV MPHOSPH6:NM_005792:exon5:c.A401G:p.D134G exonic ENSG00000135698 NA nonsynonymous SNV ENSG00000135698:ENST00000258169:exon5:c.A401G:p.D134G,ENSG00000135698:ENST00000563504:exon5:c.A314G:p.D105G,ENSG00000135698:ENST00000563100:exon6:c.A347G:p.D116G Score=538;Name=lod=204 NA 16q23.3 NA NA NA NA rs34375324 0.01 0.01 0.007 0.00419329 0.0159 0.001 0.0029 NA 0.002 0.02 0.0017 0.0028 NA 0.0089 0.02 0.07 T 0.346 B 0.077 B 0.000 D 1.000 D 1.39 L 0.87 T -1.072 T 0.052 T 0.306 3.408 17.51 5.84 2.232 5.874 15.376 3.408034 3.408034 0.09 0.015465 0.003862 NA 0.007 NA 13.2930684 332 16 55703498 55703498 C T exonic SLC6A2 NA nonsynonymous SNV SLC6A2:NM_001043:exon2:c.C296T:p.T99I,SLC6A2:NM_001172504:exon2:c.C296T:p.T99I,SLC6A2:NM_001172501:exon3:c.C296T:p.T99I exonic ENSG00000103546 NA nonsynonymous SNV ENSG00000103546:ENST00000219833:exon2:c.C296T:p.T99I,ENSG00000103546:ENST00000379906:exon2:c.C296T:p.T99I,ENSG00000103546:ENST00000561820:exon2:c.C296T:p.T99I,ENSG00000103546:ENST00000566163:exon2:c.C296T:p.T99I,ENSG00000103546:ENST00000414754:exon3:c.C296T:p.T99I,ENSG00000103546:ENST00000568529:exon3:c.C296T:p.T99I,ENSG00000103546:ENST00000568655:exon3:c.C296T:p.T99I,ENSG00000103546:ENST00000568943:exon3:c.C296T:p.T99I Score=461;Name=lod=100 NA 16q12.2 Score=711;Name=V$HOX13_01 NA NA NA rs1805065 0.0032 0.0032 0.002 0.00559105 0.0129 NA 0.0144 0.0015 0.0031 0.01 NA 0.01 NA 0.0094 0.018 0.82 T 0.001 B 0.008 B 0.000 D 1.000 D -0.205 N -0.71 T -0.942 T 0.064 T 0.398 1.401 10.62 4.9 2.778 0.923 8.967 1.400808 1.400808 0.51 0.018372 0.004777 NA NA NA 13.2926614 332 6 29323905 29323905 A C exonic OR5V1 NA nonsynonymous SNV OR5V1:NM_030876:exon1:c.T68G:p.L23W exonic ENSG00000243729 NA nonsynonymous SNV ENSG00000243729:ENST00000543825:exon1:c.T68G:p.L23W,ENSG00000243729:ENST00000377154:exon4:c.T68G:p.L23W NA NA 6p22.1 NA NA NA NA rs6930033 0.24 0.24 0.214 0.251198 0.17 0.4038 0.2478 0.1672 0.2935 0.15 0.4 0.26 0.15 0.2113 0.4 0.05 D 0.997 D 0.817 P 0.205 N 1.000 P 2.325 M 3.42 T -1.124 T 0.029 T 0.176 2.869 15.56 4.37 1.953 1.174 13.664 2.86885 2.86885 0.12 0.160298 0.148089 NA 0.261 NA 13.2917354 332 17 46607958 46607958 T A exonic HOXB1 NA nonsynonymous SNV HOXB1:NM_002144:exon1:c.A309T:p.Q103H exonic ENSG00000120094 NA nonsynonymous SNV ENSG00000120094:ENST00000239174:exon1:c.A309T:p.Q103H,ENSG00000120094:ENST00000577092:exon1:c.A309T:p.Q103H NA NA 17q21.32 NA NA NA NA rs12939811 0.11 0.11 0.104 0.114417 0.1928 0.0982 0.1023 0.0651 0.1258 0.2 0.07 0.09 0.05 0.1622 0.2 0.03 D 0.641 P 0.19 B 0.001 D 1.000 P 1.625 L -2.58 D -0.903 T 0.001 T 0.091 0.848 8.428 -5.68 -1.633 -1.050 11.797 0.847945 NA 0.18 0.188488 0.077848 NA 0.174 NA 13.2898454 332 11 124440362 124440362 C G exonic OR8A1 NA nonsynonymous SNV OR8A1:NM_001005194:exon1:c.C398G:p.T133R exonic ENSG00000196119 NA nonsynonymous SNV ENSG00000196119:ENST00000284287:exon1:c.C398G:p.T133R Score=366;Name=lod=41 NA 11q24.2 NA NA NA NA rs55861866 0.28 0.28 0.261 0.272165 0.3598 0.2659 0.3847 0.0726 0.3783 0.35 0.28 0.38 0.09 0.3368 0.38 0 D 0.956 P 0.836 P 0.000 D 0.046 P 3.635 H 4.98 T -0.988 T 0.000 T 0.312 3.553 18.12 3.17 0.707 3.401 7.485 3.552723 3.552723 0 0.347174 0.131304 NA 0.254 NA 13.2895594 332 1 186026474 186026474 T C exonic HMCN1 NA nonsynonymous SNV HMCN1:NM_031935:exon46:c.T7253C:p.I2418T exonic ENSG00000143341 NA nonsynonymous SNV ENSG00000143341:ENST00000271588:exon46:c.T7253C:p.I2418T,ENSG00000143341:ENST00000367492:exon46:c.T7253C:p.I2418T Score=567;Name=lod=270 NA 1q31.1 Score=857;Name=V$E4BP4_01 NA NA NA rs12129650 0.55 0.55 0.552 0.529952 0.496 0.5675 0.6124 0.5393 0.455 0.51 0.6 0.6 0.52 0.5389 0.6 0.05 D 0.918 P 0.446 B 0.000 N 0.000 P 2.76 M -0.64 T -0.910 T 0.000 T 0.183 3.57 18.19 4.67 1.020 5.743 11.765 3.569521 3.569521 0.04 0.510116 0.555152 NA 0.514 NA 13.2883174 332 9 97055310 97055310 C T exonic ZNF169 NA nonsynonymous SNV ZNF169:NM_194320:exon4:c.C215T:p.P72L exonic ENSG00000175787 NA nonsynonymous SNV ENSG00000175787:ENST00000375354:exon3:c.C215T:p.P72L,ENSG00000175787:ENST00000480716:exon3:c.C215T:p.P72L,ENSG00000175787:ENST00000481550:exon3:c.C215T:p.P72L,ENSG00000175787:ENST00000340911:exon4:c.C215T:p.P72L,ENSG00000175787:ENST00000395395:exon4:c.C215T:p.P72L Score=289;Name=lod=20 NA 9q22.32 NA NA NA NA rs1536690 0.16 0.16 0.159 0.183506 0.1759 0.0565 0.1571 0.2526 0.2474 0.17 0.08 0.16 0.26 0.1862 0.26 0 D 0.997 D 0.88 P . . 0.000 P 1.815 L 5.45 T -1.007 T 0.000 T 0.317 1.516 11.02 3.09 1.754 1.624 9.822 1.516372 1.516372 0 0.183488 0.246255 NA 0.159 NA 13.2877454 332 18 44559844 44559844 G A exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.C1792T:p.P598S exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.C1792T:p.P598S NA NA 18q21.1 NA NA NA NA rs61743415 0.01 0.01 0.007 0.00758786 0.0209 0.006 0.0101 0.0008 0.0031 0.02 0.01 0.01 0.002 0.0119 0.02 0.01 D 0.99 D 0.929 D 0.003 N 1.000 N 2.745 M 1.46 T -1.034 T 0.092 T 0.121 2.519 14.38 1.4 1.090 5.083 8.764 2.518739 2.518739 0.01 0.014302 0.004085 NA 0.022 NA 13.2862314 332 18 44560038 44560038 C A exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G1598T:p.C533F exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G1598T:p.C533F NA NA 18q21.1 NA NA NA NA rs72921303 0.01 0.01 0.006 0.00758786 0.0209 0.006 0.0101 0.0008 0.0031 0.02 0.01 0.01 0.002 0.0119 0.02 0 D 1.0 D 0.999 D 0.792 N 0.976 N 2.38 M 1.12 T -0.991 T 0.135 T 0.297 1.992 12.62 1.65 1.258 1.461 6.791 1.991813 1.991813 0 0.014535 0.004085 NA 0.022 NA 13.2859984 332 12 6153534 6153534 T C exonic VWF NA nonsynonymous SNV VWF:NM_000552:exon18:c.A2365G:p.T789A exonic ENSG00000110799 NA nonsynonymous SNV ENSG00000110799:ENST00000261405:exon18:c.A2365G:p.T789A Score=525;Name=lod=181 Name=Coagulation factor levels 12p13.31 NA Name=AP-2gamma,c-Myc,AP-2alpha,JunD,c-Fos Name=29 NA rs1063856 0.34 0.34 0.336 0.336262 0.3668 0.0913 0.2406 0.6377 0.2178 0.37 0.08 0.27 0.65 0.3232 0.65 1 T 0.0 B 0.0 B 0.040 N 0.000 P -0.895 N -2.64 D -0.956 T 0.000 T 0.091 -0.204 3.009 2.17 0.446 0.890 9.244 -0.204232 NA 1 0.357442 0.568316 NA 0.442 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086605.1;CLNDSDB=.;CLNDSDBID=. 13.2858914 332 4 46995366 46995366 G T exonic GABRA4 NA nonsynonymous SNV GABRA4:NM_000809:exon1:c.C76A:p.L26M exonic ENSG00000109158 NA nonsynonymous SNV ENSG00000109158:ENST00000264318:exon1:c.C76A:p.L26M,ENSG00000109158:ENST00000502874:exon1:c.C76A:p.L26M Score=682;Name=lod=787 NA 4p12 Score=884;Name=V$ELK1_01 Name=SUZ12 Name=16 NA rs2229940 0.34 0.34 0.334 0.300719 0.3668 0.3879 0.2968 0.2526 0.2106 0.37 0.37 0.3 0.28 0.3144 0.37 0.09 T 0.091 B 0.103 B 0.108 N 0.808 P 0.695 N -1.56 D -1.052 T 0.000 T 0.206 2.179 13.24 2.98 0.588 2.533 6.801 2.178732 2.178732 0.01 0.366744 0.256922 ID=COSM1131120;OCCURENCE=1(prostate) 0.326 NA 13.2853894 333 17 8700982 8700982 C T exonic MFSD6L NA nonsynonymous SNV MFSD6L:NM_152599:exon1:c.G1457A:p.R486H exonic ENSG00000185156 NA nonsynonymous SNV ENSG00000185156:ENST00000329805:exon1:c.G1457A:p.R486H Score=366;Name=lod=41 NA 17p13.1 NA NA NA NA rs2242373 0.18 0.18 0.205 0.19988 0.1759 0.1915 0.1182 0.2156 0.2699 0.17 0.18 0.14 0.22 0.1855 0.22 0.16 T 0.995 D 0.684 P 0.038 N 0.830 P 1.5 L -3.48 D -1.260 T 0.002 T 0.076 3.204 16.73 4.9 2.531 4.132 17.013 3.204461 3.204461 0.18 0.188953 0.208579 NA 0.217 NA 13.2829804 333 15 52521383 52521383 C T exonic MYO5C NA nonsynonymous SNV MYO5C:NM_018728:exon25:c.G3154A:p.V1052I exonic ENSG00000128833 NA nonsynonymous SNV ENSG00000128833:ENST00000261839:exon25:c.G3154A:p.V1052I NA NA 15q21.2 Score=769;Name=V$TAXCREB_02 Name=PU.1,eGFP-JunD,CEBPB,ELF1_(SC-631),HA-E2F1,c-Jun,ZEB1_(SC-25388),c-Myc,PAX5-C20 Name=47 NA rs62623565 0.07 0.07 0.061 0.0754792 0.0099 0.1042 0.0576 0.1422 0.0358 0.01 0.11 0.04 0.13 0.0342 0.13 0.19 T 0.0 B 0.001 B 0.169 N 1.000 P 0.345 N 2.18 T -1.010 T 0.000 T 0.004 0.51 6.767 -5.82 -0.981 -1.925 8.719 0.510495 NA 0.22 0.010073 0.117617 NA 0.065 NA 13.2791604 333 19 12089743 12089743 C T exonic ZNF763 NA nonsynonymous SNV ZNF763:NM_001012753:exon4:c.C1013T:p.T338M exonic ENSG00000197054,ENSG00000267179 NA nonsynonymous SNV ENSG00000197054:ENST00000545530:exon2:c.C638T:p.T213M,ENSG00000197054:ENST00000343949:exon4:c.C1013T:p.T338M,ENSG00000197054:ENST00000358987:exon4:c.C1004T:p.T335M,ENSG00000197054:ENST00000538752:exon4:c.C1064T:p.T355M,ENSG00000267179:ENST00000590798:exon4:c.C1064T:p.T355M Score=371;Name=lod=43 NA 19p13.2 NA NA NA NA rs7250795 0.02 0.02 0.018 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 0.0168 0.03 0 D 0.965 D 0.408 B . . 1.000 N 2.92 M 1.74 T -1.092 T 0.029 T 0.059 1.301 10.26 -2.81 -2.203 0.028 4.350 1.300818 1.300818 0 0.018385 0.02793 NA 0.014 NA 13.2752484 334 1 208390469 208390469 C T exonic PLXNA2 NA nonsynonymous SNV PLXNA2:NM_025179:exon2:c.G799A:p.A267T exonic ENSG00000076356 NA nonsynonymous SNV ENSG00000076356:ENST00000367033:exon2:c.G799A:p.A267T Score=444;Name=lod=85 NA 1q32.2 Score=916;Name=V$CDPCR3HD_01 Name=CTCF NA NA rs3748735 0.14 0.14 0.144 0.139577 0.1988 0.1458 0.1715 0.0673 0.1472 0.18 0.14 0.15 0.07 0.1674 0.2 0.83 T 0.649 P 0.359 B 0.057 N 0.015 P 0 N 2.83 T -0.945 T 0.000 T 0.115 2.435 14.1 4.91 1.433 3.531 14.088 2.434528 2.434528 0.03 0.196047 0.087608 NA 0.051 NA 13.2710864 334 11 95713077 95713077 C T exonic MAML2 NA nonsynonymous SNV MAML2:NM_032427:exon5:c.G2506A:p.V836I exonic ENSG00000184384 NA nonsynonymous SNV ENSG00000184384:ENST00000524717:exon5:c.G2506A:p.V836I Score=492;Name=lod=133 NA 11q21 NA NA NA NA rs34520053 0.01 0.01 0.007 0.0061901 0.0229 0.001 0.0014 NA 0.0061 0.02 NA 0.0028 NA 0.0192 0.025 0.41 T 0.176 B 0.07 B 0.000 D 0.812 D 0.345 N 0.93 T -1.025 T 0.031 T 0.033 0.511 6.771 5.33 2.655 3.735 10.589 0.511215 NA 0.25 0.024515 0.006088 NA 0.007 NA 13.2667184 335 9 121971069 121971069 C T exonic DBC1 NA nonsynonymous SNV DBC1:NM_014618:exon7:c.G1073A:p.R358H exonic ENSG00000078725 NA nonsynonymous SNV ENSG00000078725:ENST00000265922:exon7:c.G1073A:p.R358H Score=514;Name=lod=163 NA 9q33.1 NA NA NA NA rs17476783 0.01 0.01 0.012 0.00778754 0.0298 NA 0.0086 0.0015 0.001 0.03 NA 0.01 0.002 0.0179 0.03 0.08 T 0.004 B 0.001 B 0.000 D 1.000 D 0.9 L 2.35 T -1.113 T 0.015 T 0.119 3.533 18.03 5.79 2.731 3.797 19.032 3.532696 3.532696 0.08 0.026628 0.006128 NA NA NA 13.2590054 336 11 82895826 82895826 A G exonic PCF11 NA nonsynonymous SNV PCF11:NM_015885:exon16:c.A4558G:p.S1520G exonic ENSG00000165494 NA nonsynonymous SNV ENSG00000165494:ENST00000298281:exon16:c.A4558G:p.S1520G Score=697;Name=lod=904 NA 11q14.1 NA NA NA NA rs118001085 0.01 0.01 0.011 0.00978435 0.0288 NA 0.0245 0.0015 0.001 0.03 NA 0.02 NA 0.0211 0.032 . . 0.01 B 0.026 B 0.000 D 0.985 D 1.1 L 1.69 T -1.071 T 0.018 T 0.146 2.28 13.58 6.16 2.367 2.428 11.197 2.279966 2.279966 0.22 0.032168 0.005826 ID=COSM1196689,COSM1196688;OCCURENCE=1(lung) NA NA 13.2512654 336 11 6891113 6891113 A G exonic OR10A2 NA nonsynonymous SNV OR10A2:NM_001004460:exon1:c.A128G:p.H43R exonic ENSG00000170790 NA nonsynonymous SNV ENSG00000170790:ENST00000307322:exon1:c.A128G:p.H43R Score=289;Name=lod=20 NA 11p15.4 Score=754;Name=V$TAXCREB_02 NA NA NA rs3930075 0.31 0.31 0.275 0.324281 0.3569 0.3135 0.3732 0.2073 0.4254 0.36 0.31 0.35 0.2 0.3533 0.37 0.02 D 0.001 B 0.002 B 0.002 N 0.936 P 2.265 M 2.38 T -0.971 T 0.000 T 0.188 0.509 6.758 4.3 1.942 5.036 6.623 0.508631 NA 0.07 0.373487 0.201045 NA 0.261 NA 13.2496464 337 7 127668769 127668769 G T exonic LRRC4 NA nonsynonymous SNV LRRC4:NM_022143:exon2:c.C1925A:p.T642N exonic ENSG00000128594 NA nonsynonymous SNV ENSG00000128594:ENST00000249363:exon2:c.C1925A:p.T642N Score=749;Name=lod=1481 NA 7q32.1 NA NA NA NA rs117070316 0.02 0.02 0.008 0.0133786 0.0368 NA 0.0245 0.0053 0.0061 0.03 NA 0.03 0.0041 0.0211 0.031 0.04 D 0.047 B 0.012 B 0.000 U 1.000 D 1.59 L 1.01 T -1.026 T 0.039 T 0.151 1.455 10.81 3.85 2.140 2.520 13.646 1.455145 1.455145 0.16 0.030814 0.007036 NA 0.014 NA 13.2446194 337 2 128388862 128388862 G C exonic MYO7B NA nonsynonymous SNV MYO7B:NM_001080527:exon36:c.G4941C:p.E1647D exonic ENSG00000169994 NA nonsynonymous SNV ENSG00000169994:ENST00000409090:exon12:c.G1500C:p.E500D,ENSG00000169994:ENST00000409816:exon35:c.G4941C:p.E1647D,ENSG00000169994:ENST00000389524:exon36:c.G4941C:p.E1647D,ENSG00000169994:ENST00000428314:exon36:c.G4941C:p.E1647D Score=448;Name=lod=88 NA 2q14.3 Score=816;Name=V$OLF1_01 NA NA NA rs13025959 0.14 0.14 0.138 0.168131 0.2018 0.1349 0.1239 0.0499 0.3589 0.2 0.15 0.13 0.05 0.198 0.2 0.35 T 0.849 P 0.276 B 0.000 D 0.001 P 1.47 L -0.28 T -1.054 T 0.000 T 0.422 1.856 12.16 4.89 1.447 2.170 6.796 1.855954 1.855954 0.14 0.188957 0.075463 NA 0.109 NA 13.2445764 338 1 226924642 226924642 C T exonic ITPKB NA nonsynonymous SNV ITPKB:NM_002221:exon2:c.G518A:p.R173H exonic ENSG00000143772 NA nonsynonymous SNV ENSG00000143772:ENST00000272117:exon1:c.G518A:p.R173H,ENSG00000143772:ENST00000366784:exon2:c.G518A:p.R173H,ENSG00000143772:ENST00000429204:exon2:c.G518A:p.R173H Score=455;Name=lod=94 NA 1q42.12 Score=851;Name=V$ZID_01 NA NA NA rs3754415 0.24 0.24 0.243 0.227037 0.2127 0.3393 0.2032 0.1694 0.2209 0.22 0.33 0.22 0.18 0.2073 0.33 0.06 T 0.946 P 0.224 B 0.000 D 0.418 P 0.805 L 1.24 T -0.958 T 0.000 T 0.149 4.025 20.6 4.6 2.374 2.942 9.190 4.025053 4.025053 0.05 0.181893 0.176162 ID=COSM425466;OCCURENCE=1(breast) 0.326 NA 13.2314404 338 16 58743454 58743454 A C exonic GOT2 NA nonsynonymous SNV GOT2:NM_002080:exon9:c.T1037G:p.V346G exonic ENSG00000125166 NA nonsynonymous SNV ENSG00000125166:ENST00000434819:exon8:c.T908G:p.V303G,ENSG00000125166:ENST00000245206:exon9:c.T1037G:p.V346G Score=501;Name=lod=145 NA 16q21 Score=796;Name=V$BACH1_01 Name=ERalpha_a Name=11 NA rs30842 0.74 0.74 0.728 0.755192 0.7097 0.6607 0.7824 0.8994 0.6851 0.69 0.66 0.77 0.89 0.7117 0.89 . . 0.0 B 0.0 B 0.000 N 0.642 P -1.64 N -2.64 D -0.944 T 0.000 T 0.125 -0.149 3.27 5.31 1.252 3.160 14.655 -0.149293 NA 0.55 0.686163 0.86101 NA 0.826 NA 13.2257704 339 15 65676726 65676726 C T exonic IGDCC4 NA nonsynonymous SNV IGDCC4:NM_020962:exon20:c.G3374A:p.C1125Y exonic ENSG00000103742 NA nonsynonymous SNV ENSG00000103742:ENST00000352385:exon20:c.G3374A:p.C1125Y Score=475;Name=lod=114 NA 15q22.31 NA NA NA NA rs33918653 0.26 0.26 0.243 0.234026 0.1869 0.4444 0.2579 0.1475 0.1656 0.19 0.46 0.22 0.14 0.2264 0.46 0.05 D 0.981 D 0.592 P 0.002 N 0.113 P 1.5 L 0.22 T -0.916 T 0.000 T 0.274 3.708 18.83 4.27 1.187 2.349 10.550 3.707798 3.707798 0 0.195278 0.139936 NA 0.275 NA 13.2247554 339 1 19595194 19595194 A G ncRNA_exonic AKR7L NA NA NA exonic ENSG00000211454 NA nonsynonymous SNV ENSG00000211454:ENST00000420396:exon4:c.T172C:p.F58L Score=467;Name=lod=105 NA 1p36.13 NA NA NA NA rs75616155 0.12 0.12 0.114 0.115016 0.0944 NA 0.0778 0.3154 0.0102 0.09 NA 0.09 0.3 0.0868 0.3 0.01 D 0.824 P 0.654 P 0.000 D 0.978 P . . 3.77 T -0.908 T 0.000 T 0.254 3.442 17.65 3.49 1.587 8.284 11.225 3.442406 3.442406 0.01 0.094651 0.274626 NA 0.138 NA 13.224149 339 16 2018578 2018578 C G exonic RNF151 NA nonsynonymous SNV RNF151:NM_174903:exon4:c.C390G:p.H130Q exonic ENSG00000179580 NA nonsynonymous SNV ENSG00000179580:ENST00000321392:exon3:c.C387G:p.H129Q,ENSG00000179580:ENST00000569714:exon4:c.C390G:p.H130Q NA NA 16p13.3 NA NA NA NA rs45488492 0.04 0.04 0.028 0.0503195 0.0239 NA 0.0245 0.0991 0.0818 0.03 NA 0.02 0.11 0.0563 0.11 0 D 1.0 D 0.999 D 0.000 D 0.000 P 2.865 M -3.1 D -0.337 T 0.111 T 0.341 1.619 11.37 0.546 0.235 -0.044 7.805 1.61932 1.61932 0 0.029028 0.079597 NA 0.043 NA 13.2241054 340 16 75690279 75690279 A G exonic TERF2IP NA nonsynonymous SNV TERF2IP:NM_018975:exon3:c.A970G:p.K324E exonic ENSG00000166848 NA nonsynonymous SNV ENSG00000166848:ENST00000300086:exon3:c.A970G:p.K324E Score=519;Name=lod=171 NA 16q23.1 NA NA NA NA rs4888444 0.02 0.02 0.016 0.0229633 0.0398 0.001 0.0288 0.0015 0.0532 0.04 NA 0.04 0.002 0.0351 0.046 1 T 0.008 B 0.005 B 0.000 D 0.704 D -0.625 N 1.11 T -1.027 T 0.006 T 0.092 0.193 5.039 4.63 2.183 2.219 6.293 0.192905 NA 1 0.046395 0.008872 NA 0.022 NA 13.2120384 340 11 89880604 89880604 G A exonic NAALAD2 NA nonsynonymous SNV NAALAD2:NM_005467:exon3:c.G301A:p.V101I exonic ENSG00000077616 NA nonsynonymous SNV ENSG00000077616:ENST00000321955:exon3:c.G301A:p.V101I,ENSG00000077616:ENST00000375944:exon3:c.G301A:p.V101I,ENSG00000077616:ENST00000525171:exon3:c.G301A:p.V101I,ENSG00000077616:ENST00000526637:exon3:c.G139A:p.V47I,ENSG00000077616:ENST00000527493:exon3:c.G301A:p.V101I,ENSG00000077616:ENST00000534061:exon3:c.G301A:p.V101I Score=552;Name=lod=233 NA 11q14.3 NA NA NA NA rs11018879 0.04 0.04 0.025 0.0373403 0.0437 0.0694 0.0331 0.0023 0.0481 0.04 0.06 0.04 0.002 0.0393 0.06 . . 0.034 B 0.007 B 0.003 N 1.000 D 2.33 M 1.36 T -1.056 T 0.022 T 0.053 3.03 16.11 4.12 1.242 6.121 14.076 3.030389 3.030389 0.24 0.038381 0.009087 NA 0.014 NA 13.2119524 340 13 25887811 25887811 T C exonic NUPL1 NA nonsynonymous SNV NUPL1:NM_001008564:exon4:c.T460C:p.S154P,NUPL1:NM_014089:exon5:c.T496C:p.S166P exonic ENSG00000139496 NA nonsynonymous SNV ENSG00000139496:ENST00000394327:exon3:c.T337C:p.S113P,ENSG00000139496:ENST00000381718:exon4:c.T460C:p.S154P,ENSG00000139496:ENST00000381736:exon5:c.T496C:p.S166P,ENSG00000139496:ENST00000381747:exon5:c.T496C:p.S166P,ENSG00000139496:ENST00000463407:exon5:c.T496C:p.S166P Score=489;Name=lod=129 NA 13q12.13 NA NA NA NA rs12871608 0.02 0.02 0.013 0.0147764 0.0517 NA 0.0101 0.0053 0.0082 0.05 NA 0.01 0.01 0.0294 0.05 0.08 T 0.005 B 0.009 B 0.000 D 1.000 D 1.78 L 1.37 T -1.084 T 0.026 T 0.308 3.395 17.46 4.64 1.041 2.613 12.062 3.395078 3.395078 0.03 0.043488 0.008171 NA 0.007 NA 13.2087454 340 4 106156163 106156163 G A exonic TET2 NA nonsynonymous SNV TET2:NM_001127208:exon3:c.G1064A:p.G355D,TET2:NM_017628:exon3:c.G1064A:p.G355D exonic ENSG00000168769 NA nonsynonymous SNV ENSG00000168769:ENST00000413648:exon2:c.G1064A:p.G355D,ENSG00000168769:ENST00000265149:exon3:c.G1064A:p.G355D,ENSG00000168769:ENST00000305737:exon3:c.G1064A:p.G355D,ENSG00000168769:ENST00000380013:exon3:c.G1064A:p.G355D,ENSG00000168769:ENST00000394764:exon3:c.G1064A:p.G355D,ENSG00000168769:ENST00000513237:exon3:c.G1127A:p.G376D,ENSG00000168769:ENST00000540549:exon3:c.G1064A:p.G355D,ENSG00000168769:ENST00000545826:exon3:c.G1064A:p.G355D Score=405;Name=lod=59 NA 4q24 NA NA NA NA rs61744960 0.02 0.02 0.022 0.0167732 0.0557 NA 0.0231 0.0023 0.0092 0.06 NA 0.02 0.002 0.0268 0.06 0.01 D 0.944 P 0.79 P 0.000 N 0.999 N 0.805 L 4.26 T -0.996 T 0.004 T 0.473 3.225 16.81 3.11 1.099 3.430 9.100 3.224528 3.224528 0.01 0.043721 0.007036 NA 0.014 NA 13.2071124 341 5 90151589 90151589 G A exonic GPR98 NA nonsynonymous SNV GPR98:NM_032119:exon82:c.G17626A:p.V5876I exonic ENSG00000164199 NA nonsynonymous SNV ENSG00000164199:ENST00000425867:exon18:c.G4609A:p.V1537I,ENSG00000164199:ENST00000405460:exon82:c.G17626A:p.V5876I Score=594;Name=lod=346 NA 5q14.3 NA NA Name=4 NA rs2247870 0.5 0.5 0.444 0.459065 0.5606 0.5665 0.6931 0.1309 0.5215 0.57 0.58 0.67 0.15 0.5393 0.67 . . 0.576 P 0.178 B 0.000 D 0.000 P 1.295 L -0.46 T -0.916 T 0.000 T 0.053 1.992 12.62 4.64 1.465 2.899 11.347 1.991585 1.991585 0.13 0.547222 0.195216 ID=COSM149886;OCCURENCE=1(stomach) 0.435 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039547.1;CLNDSDB=.;CLNDSDBID=. 13.1862114 342 12 52994896 52994896 A G exonic KRT72 NA nonsynonymous SNV KRT72:NM_001146225:exon1:c.T341C:p.M114T,KRT72:NM_001146226:exon1:c.T341C:p.M114T,KRT72:NM_080747:exon1:c.T341C:p.M114T exonic ENSG00000170486 NA nonsynonymous SNV ENSG00000170486:ENST00000293745:exon1:c.T341C:p.M114T,ENSG00000170486:ENST00000354310:exon1:c.T341C:p.M114T,ENSG00000170486:ENST00000537672:exon1:c.T341C:p.M114T Score=542;Name=lod=212 NA 12q13.13 Score=855;Name=V$ZID_01 NA NA NA rs56207115 0.08 0.08 0.081 0.0802716 0.0477 0.0218 0.0576 0.1982 0.0307 0.04 0.02 0.07 0.18 0.0516 0.18 0 D 0.001 B 0.013 B 0.023 N 0.000 P 0 N -0.89 T -1.059 T 0.000 T 0.407 3.124 16.44 4.49 2.244 9.084 14.843 3.123859 3.123859 0 0.049651 0.164775 NA 0.109 NA 13.1843824 342 2 10908893 10908893 A G exonic ATP6V1C2 NA nonsynonymous SNV ATP6V1C2:NM_001039362:exon6:c.A427G:p.N143D,ATP6V1C2:NM_144583:exon6:c.A427G:p.N143D exonic ENSG00000143882 NA nonsynonymous SNV ENSG00000143882:ENST00000272238:exon6:c.A427G:p.N143D,ENSG00000143882:ENST00000381661:exon6:c.A427G:p.N143D Score=419;Name=lod=67 NA 2p25.1 NA NA NA NA rs1198849 0.44 0.44 0.407 0.452476 0.3648 0.6597 0.438 0.3434 0.4867 0.38 0.62 0.44 0.34 0.4212 0.62 0.01 D 0.112 B 0.266 B 0.000 D 0.001 P 3.265 M 0.6 T -0.934 T 0.000 T 0.054 2.63 14.76 4.48 0.951 5.384 10.718 2.630472 2.630472 0.01 0.370465 0.332047 NA 0.319 NA 13.1768684 342 13 44411432 44411432 A G exonic CCDC122 NA nonsynonymous SNV CCDC122:NM_144974:exon7:c.T806C:p.I269T exonic ENSG00000151773 NA nonsynonymous SNV ENSG00000151773:ENST00000444614:exon7:c.T806C:p.I269T NA NA 13q14.11 NA Name=CEBPB NA NA rs9567280 0.06 0.06 0.048 0.061901 0.0577 0.1111 0.0447 0.0023 0.1084 0.06 0.11 0.04 0.0041 0.0524 0.11 0.01 D 0.835 P 0.466 P . . 0.000 P 1.78 L 0.9 T -1.005 T 0.004 T 0.246 2.92 15.73 5.35 2.143 4.507 13.008 2.919662 2.919662 0.01 0.047456 0.006702 NA 0.014 NA 13.1757774 343 6 26056604 26056604 G A exonic HIST1H1C NA nonsynonymous SNV HIST1H1C:NM_005319:exon1:c.C53T:p.A18V exonic ENSG00000187837 NA nonsynonymous SNV ENSG00000187837:ENST00000343677:exon1:c.C53T:p.A18V Score=349;Name=lod=35 NA 6p22.2 Score=829;Name=V$OLF1_01 Name=PAX5-C20,POU5F1_(SC-9081),Oct-2,SRF,CCNT2,FOSL1_(SC-183),c-Myc,ZBTB7A_(SC-34508),BCL3,HEY1,ZEB1_(SC-25388),NFKB,ELF1_(SC-631),TBP,CHD2_(N-1250),BATF,GATA2_(CG2-96),GTF2F1_(RAP-74),p300_(N-15),GTF2B,USF-1,TCF12,Nrf1,EBF1_(C-8),POU2F2,ZBTB33,GABP,HMGN3,ETS1,E2F6_(H-50),Pol2(b),TAF1,GATA-1,FOSL2,JunD,p300_(F-4),SP2_(SC-643),TAF7_(SQ-8),BCLAF1_(M33-P5B11),YY1_(C-20),Sin3Ak-20,eGFP-JunD,Pol2-4H8,SP1,NRSF,Pol2,GCN5,MEF2C_(SC-13268),Egr-1,Pol2(phosphoS2),YY1 Name=148 NA rs2230653 0.19 0.19 0.139 0.17492 0.0308 0.5089 0.2233 0.0008 0.18 0.04 0.55 0.18 0.002 0.1051 0.55 0.11 T 0.0 B 0.001 B 0.400 N 0.688 P 0 N 2.87 T -0.966 T 0.008 T 0.122 0.976 8.984 4.85 0.896 3.457 16.939 0.976138 NA 0.2 0.022934 0.009099 NA 0.08 NA 13.1744994 343 11 6221214 6221214 T A exonic OR52W1 NA nonsynonymous SNV OR52W1:NM_001005178:exon1:c.T761A:p.L254Q exonic ENSG00000175485 NA nonsynonymous SNV ENSG00000175485:ENST00000311352:exon1:c.T761A:p.L254Q Score=516;Name=lod=167 NA 11p15.4 NA NA NA NA rs11040799 0.62 0.62 0.586 0.569888 0.7475 0.7976 0.598 0.2133 0.6145 0.74 0.78 0.67 0.22 0.6795 0.78 0 D 0.999 D 0.972 D 0.009 N 0.112 P 3.315 M 1.02 T -0.965 T 0.000 T 0.293 3.358 17.31 5.11 2.036 3.012 14.368 3.357877 3.357877 0.01 0.73615 0.302135 NA 0.616 NA 13.1701834 343 1 47607785 47607785 G A exonic CYP4A22 NA nonsynonymous SNV CYP4A22:NM_001010969:exon4:c.G388A:p.G130S exonic ENSG00000162365 NA nonsynonymous SNV ENSG00000162365:ENST00000294337:exon4:c.G388A:p.G130S,ENSG00000162365:ENST00000371890:exon4:c.G388A:p.G130S,ENSG00000162365:ENST00000371891:exon4:c.G388A:p.G130S Score=300;Name=lod=22 NA 1p33 NA NA NA NA rs2056900 0.29 0.29 0.295 0.336262 0.1928 0.5546 0.232 0.2073 0.5072 0.19 0.55 0.24 0.2 0.2694 0.55 0.01 D 0.997 D 0.893 P 0.000 D 0.001 P 2.875 M -0.65 T -0.924 T 0.000 T 0.327 3.738 18.98 0.679 0.034 3.218 8.275 3.738385 3.738385 0.02 0.201512 0.228098 NA 0.21 NA 13.1696214 343 11 27384585 27384585 G A exonic CCDC34 NA nonsynonymous SNV CCDC34:NM_030771:exon1:c.C157T:p.P53S,CCDC34:NM_080654:exon1:c.C157T:p.P53S exonic ENSG00000109881 NA nonsynonymous SNV ENSG00000109881:ENST00000317945:exon1:c.C157T:p.P53S,ENSG00000109881:ENST00000328697:exon1:c.C157T:p.P53S NA NA 11p14.1 NA Name=Max,CHD2_(N-1250),TAF1,Pol2,E2F6,USF1_(SC-8983),HEY1,c-Myc,USF-1,HA-E2F1 Name=4 NA rs11549824 0.04 0.04 0.026 0.0295527 0.0557 0.002 0.0418 0.0408 0.0072 0.06 NA 0.05 0.04 0.0511 0.06 0.53 T 0.893 P 0.461 P 0.078 N 1.000 P 0.55 N 3.23 T -1.042 T 0.008 T 0.12 0.926 8.772 2.08 1.060 0.962 8.599 0.926153 NA 0.36 0.059084 0.041326 ID=COSM428874,COSM428873;OCCURENCE=1(breast) 0.029 NA 13.1674494 343 17 78184679 78184679 C T exonic SGSH NA nonsynonymous SNV SGSH:NM_000199:exon8:c.G1081A:p.V361I exonic ENSG00000181523 NA nonsynonymous SNV ENSG00000181523:ENST00000534910:exon7:c.G472A:p.V158I,ENSG00000181523:ENST00000326317:exon8:c.G1081A:p.V361I Score=586;Name=lod=322 NA 17q25.3 NA NA NA NA rs9894254 0.07 0.07 0.086 0.0634984 0.0616 NA 0.0403 0.1573 0.0204 0.06 NA 0.04 0.18 0.0536 0.18 0.24 T 0.065 B 0.127 B 0.000 D 0.000 P 1.17 L -1.39 T -1.014 T 0.001 T 0.126 3.261 16.94 4.45 2.009 3.164 16.696 3.260852 3.260852 0.21 0.050814 0.14276 NA 0.043 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078348.1;CLNDSDB=.;CLNDSDBID=. 13.1673194 344 19 12876964 12876964 G C exonic HOOK2 NA nonsynonymous SNV HOOK2:NM_001100176:exon15:c.C1464G:p.H488Q,HOOK2:NM_013312:exon15:c.C1464G:p.H488Q exonic ENSG00000095066 NA nonsynonymous SNV ENSG00000095066:ENST00000264827:exon15:c.C1464G:p.H488Q,ENSG00000095066:ENST00000397668:exon15:c.C1464G:p.H488Q Score=510;Name=lod=157 NA 19p13.2 Score=946;Name=V$LMO2COM_01 Name=CTCFL_(SC-98982),Znf143_(16618-1-AP),Pol2(phosphoS2),SMC3_(ab9263),YY1_(C-20),Rad21,ELF1_(SC-631),CTCF,ZNF263,ZEB1_(SC-25388),PAX5-C20,CTCF_(C-20) Name=132 NA rs897804 0.27 0.27 0.249 0.216853 0.4394 0.2321 0.2939 0.0325 0.1667 0.45 0.21 0.33 0.04 0.3365 0.45 0.44 T 0.013 B 0.01 B 0.056 N 0.476 P -0.14 N 2.4 T -0.908 T 0.000 T 0.024 2.256 13.5 3.69 2.174 1.363 6.3 2.255926 2.255926 0.48 0.393645 0.083592 ID=COSM438629;OCCURENCE=1(breast) 0.196 NA 13.1637884 344 4 38776491 38776491 T G exonic TLR10 NA nonsynonymous SNV TLR10:NM_001017388:exon2:c.A721C:p.N241H,TLR10:NM_001195106:exon3:c.A721C:p.N241H,TLR10:NM_001195107:exon3:c.A721C:p.N241H,TLR10:NM_001195108:exon3:c.A679C:p.N227H,TLR10:NM_030956:exon4:c.A721C:p.N241H exonic ENSG00000174123 NA nonsynonymous SNV ENSG00000174123:ENST00000361424:exon2:c.A721C:p.N241H,ENSG00000174123:ENST00000506111:exon2:c.A721C:p.N241H,ENSG00000174123:ENST00000508334:exon2:c.A721C:p.N241H,ENSG00000174123:ENST00000308973:exon4:c.A721C:p.N241H NA NA 4p14 NA NA NA NA rs11096957 0.48 0.48 0.5 0.5 0.3976 0.5546 0.4179 0.5492 0.5409 0.37 0.62 0.41 0.55 0.4301 0.66 0.02 D 0.864 P 0.669 P 0.004 N 1.000 P 2.28 M -1.73 D -0.915 T 0.000 T 0.055 0.994 9.059 4.91 1.841 0.982 14.544 0.993939 NA 0 0.34314 0.506355 NA 0.594 NA 13.1624934 344 7 150645534 150645534 T G exonic KCNH2 NA nonsynonymous SNV KCNH2:NM_172057:exon7:c.A1670C:p.K557T,KCNH2:NM_000238:exon11:c.A2690C:p.K897T exonic ENSG00000055118 NA nonsynonymous SNV ENSG00000055118:ENST00000330883:exon7:c.A1670C:p.K557T,ENSG00000055118:ENST00000392968:exon9:c.A2402C:p.K801T,ENSG00000055118:ENST00000262186:exon11:c.A2690C:p.K897T Score=399;Name=lod=56 NA 7q36.1 NA NA Name=3 NA rs1805123 0.13 0.13 0.111 0.136182 0.2535 0.0536 0.17 0.0068 0.2515 0.24 0.03 0.2 0.02 0.1871 0.24 0.11 T 0.952 P 0.305 B 0.004 N 0.000 P 1.935 M -4.79 D -1.076 T 0.002 T 0.403 2.663 14.87 -0.036 -0.079 2.069 7.206 2.663067 2.663067 0.17 0.232558 0.045166 ID=COSM1449213;OCCURENCE=1(large_intestine) 0.109 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000058152.2;CLNDSDB=.;CLNDSDBID=. 13.1601754 344 1 247752161 247752161 T C exonic OR2G2 NA nonsynonymous SNV OR2G2:NM_001001915:exon1:c.T500C:p.L167P exonic ENSG00000177489 NA nonsynonymous SNV ENSG00000177489:ENST00000320065:exon1:c.T500C:p.L167P Score=329;Name=lod=29 NA 1q44 NA NA NA NA rs10925085 0.35 0.35 0.329 0.307508 0.4125 0.5228 0.3501 0.0582 0.2843 0.41 0.53 0.35 0.06 0.3623 0.53 0 D 0.999 D 0.99 D 0.009 U 0.726 P 2.865 M 8.48 T -1.097 T 0.000 T 0.385 2.655 14.84 4.29 1.789 0.342 11.468 2.655025 2.655025 0 0.402791 0.105538 NA 0.297 NA 13.1557424 344 7 45217015 45217015 T C exonic RAMP3 NA nonsynonymous SNV RAMP3:NM_005856:exon2:c.T166C:p.W56R exonic ENSG00000122679 NA nonsynonymous SNV ENSG00000122679:ENST00000242249:exon2:c.T166C:p.W56R,ENSG00000122679:ENST00000481345:exon2:c.T166C:p.W56R,ENSG00000122679:ENST00000496212:exon2:c.T166C:p.W56R Score=393;Name=lod=53 NA 7p13 Score=931;Name=V$CEBPB_02 NA NA NA rs2074654 0.06 0.06 0.057 0.0640974 0.0547 0.1071 0.0807 0.0234 0.0726 0.05 0.1 0.09 0.02 0.0637 0.1 0.02 D 1.0 D 1.0 D 0.000 N 0.023 P 3.03 M 0.39 T -0.822 T 0.015 T 0.232 2.838 15.45 1.79 0.075 0.834 6.103 2.838217 2.838217 0.04 0.059767 0.026328 ID=COSM150281;OCCURENCE=1(stomach) 0.123 NA 13.1551664 345 7 148963652 148963652 C T exonic ZNF783 NA nonsynonymous SNV ZNF783:NM_001195220:exon2:c.C251T:p.T84I exonic ENSG00000204946 NA nonsynonymous SNV ENSG00000204946:ENST00000378052:exon2:c.C251T:p.T84I,ENSG00000204946:ENST00000434415:exon2:c.C251T:p.T84I,ENSG00000204946:ENST00000476295:exon2:c.C251T:p.T84I Score=309;Name=lod=24 NA 7q36.1 NA NA NA NA rs61729506 0.06 0.06 0.057 0.0549121 0.0557 NA 0.0706 0.1241 0.0061 0.06 NA 0.09 0.11 0.0555 0.11 0 D . . . . 0.004 N 0.000 P 2.515 M 1.82 T -1.034 T 0.003 T 0.146 2.449 14.15 3.62 2.190 0.985 8.745 2.448779 2.448779 0 0.069767 0.106673 NA 0.043 NA 13.1523664 346 16 22319517 22319517 T G exonic POLR3E NA nonsynonymous SNV POLR3E:NM_001258035:exon3:c.T28G:p.S10A,POLR3E:NM_001258033:exon4:c.T136G:p.S46A,POLR3E:NM_001258036:exon4:c.T136G:p.S46A,POLR3E:NM_018119:exon4:c.T136G:p.S46A exonic ENSG00000058600 NA nonsynonymous SNV ENSG00000058600:ENST00000563024:exon3:c.T28G:p.S10A,ENSG00000058600:ENST00000564750:exon3:c.T136G:p.S46A,ENSG00000058600:ENST00000299853:exon4:c.T136G:p.S46A,ENSG00000058600:ENST00000359210:exon4:c.T136G:p.S46A,ENSG00000058600:ENST00000564209:exon4:c.T136G:p.S46A,ENSG00000058600:ENST00000565358:exon4:c.T154G:p.S52A,ENSG00000058600:ENST00000564883:exon5:c.T136G:p.S46A Score=542;Name=lod=212 NA 16p12.2 NA NA NA NA rs2347 0.03 0.03 0.026 0.0513179 0.0716 0.003 0.0274 0.0106 0.1524 0.07 0.0017 0.04 0.01 0.0613 0.07 0 D 0.153 B 0.07 B 0.041 N 1.000 D 0.535 N 0.85 T -1.090 T 0.010 T 0.58 2.249 13.48 5.6 2.145 3.172 14.808 2.248808 2.248808 0.36 0.057093 0.015476 NA 0.029 NA 13.1433404 346 7 100374087 100374087 A G exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon34:c.A6215G:p.N2072S,ENSG00000146839:ENST00000542585:exon34:c.A6215G:p.N2072S,ENSG00000146839:ENST00000546213:exon34:c.A1748G:p.N583S,ENSG00000146839:ENST00000546292:exon34:c.A6215G:p.N2072S Score=420;Name=lod=68 NA 7q22.1 NA NA NA NA rs314300 0.28 0.28 0.26 0.245208 0.5408 0.0327 0.2839 0.1316 0.2863 0.54 0.03 0.31 0.15 0.4658 0.54 0.01 D 1.0 D 0.998 D 0.000 D 0.815 P . . -0.14 T -0.871 T 0.000 T 0.216 2.766 15.21 4.82 2.118 7.130 11.376 2.765624 2.765624 NA 0.520843 0.196909 NA 0.312 NA 13.1392237 346 3 37574951 37574951 G A exonic ITGA9 NA nonsynonymous SNV ITGA9:NM_002207:exon14:c.G1520A:p.G507E exonic ENSG00000144668 NA nonsynonymous SNV ENSG00000144668:ENST00000264741:exon14:c.G1520A:p.G507E,ENSG00000144668:ENST00000422441:exon14:c.G1520A:p.G507E Score=395;Name=lod=54 NA 3p22.2 Score=768;Name=V$STAT5A_02 NA NA NA rs267561 0.61 0.61 0.574 0.559105 0.5427 0.8046 0.6844 0.4486 0.3834 0.54 0.82 0.7 0.42 0.5728 0.82 0.35 T 0.529 P 0.443 B 0.000 D 0.000 P 2.31 M 0.85 T -1.034 T 0.000 T 0.407 3.787 19.23 5.86 2.775 7.753 20.186 3.78746 3.78746 0 0.580349 0.471403 NA 0.63 NA 13.1374844 347 16 84485677 84485677 T A exonic ATP2C2 NA nonsynonymous SNV ATP2C2:NM_014861:exon18:c.T1811A:p.L604Q exonic ENSG00000064270 NA nonsynonymous SNV ENSG00000064270:ENST00000262429:exon18:c.T1811A:p.L604Q,ENSG00000064270:ENST00000416219:exon18:c.T1811A:p.L604Q Score=435;Name=lod=78 NA 16q24.1 NA NA NA NA rs62640926 0.04 0.04 0.023 0.0291534 0.0765 0.0069 0.0447 0.0068 0.0225 0.07 0.0017 0.07 0.01 0.0497 0.072 0.98 T 0.01 B 0.042 B 0.000 D 0.994 D -0.38 N -3.8 D -0.563 T 0.105 T 0.226 0.143 4.768 3.95 0.753 6.105 10.453 0.142831 NA 0.53 0.072406 0.019941 NA 0.065 NA 13.1347274 347 3 10264480 10264480 C G exonic IRAK2 NA nonsynonymous SNV IRAK2:NM_001570:exon9:c.C1174G:p.L392V exonic ENSG00000134070 NA nonsynonymous SNV ENSG00000134070:ENST00000256458:exon9:c.C1174G:p.L392V Score=481;Name=lod=120 NA 3p25.3 NA NA NA NA rs3844283 0.3 0.3 0.286 0.288139 0.4185 0.1339 0.464 0.2126 0.2904 0.44 0.15 0.44 0.18 0.3612 0.44 0.03 D 1.0 D 0.998 D 0.002 N 0.000 P 1.76 L 1.35 T -0.918 T 0.000 T 0.167 3.812 19.36 5.14 2.369 1.933 14.105 3.812335 3.812335 0 0.419186 0.232864 NA 0.435 NA 13.1344474 347 9 21816758 21816758 G A exonic MTAP NA nonsynonymous SNV MTAP:NM_002451:exon3:c.G166A:p.V56I exonic ENSG00000099810,ENSG00000264545 NA nonsynonymous SNV ENSG00000099810:ENST00000380172:exon3:c.G166A:p.V56I,ENSG00000264545:ENST00000404796:exon3:c.G166A:p.V56I,ENSG00000099810:ENST00000460874:exon3:c.G217A:p.V73I,ENSG00000099810:ENST00000580718:exon3:c.G166A:p.V56I,ENSG00000099810:ENST00000580900:exon3:c.G166A:p.V56I Score=588;Name=lod=327 NA 9p21.3 NA NA NA NA rs7023954 0.41 0.41 0.372 0.388179 0.3946 0.4375 0.4438 0.4334 0.2301 0.4 0.4 0.41 0.44 0.3944 0.44 0.09 T 0.179 B 0.182 B 0.000 D 0.000 P 2.38 M -2.6 D -1.124 T 0.000 T 0.279 3.406 17.5 5.44 2.711 6.620 18.392 3.405531 3.405531 0.11 0.415 0.434862 NA 0.406 NA 13.1293334 348 1 153277423 153277423 C T exonic PGLYRP3 NA nonsynonymous SNV PGLYRP3:NM_052891:exon3:c.G376A:p.G126S exonic ENSG00000159527 NA nonsynonymous SNV ENSG00000159527:ENST00000290722:exon3:c.G376A:p.G126S Score=295;Name=lod=21 NA 1q21.3 Score=878;Name=V$GATA1_04 NA NA NA rs843971 0.45 0.45 0.455 0.469848 0.3996 0.5833 0.4553 0.385 0.5501 0.38 0.55 0.45 0.44 0.4235 0.55 . . 0.911 P 0.6 P 0.000 D 0.428 P 1.11 L 2.6 T -1.058 T 0.022 T 0.228 2.989 15.97 4.48 2.307 2.539 12.509 2.988634 2.988634 0.1 0.385581 0.383568 NA 0.457 NA 13.1246524 348 1 228412228 228412228 G A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon9:c.G2722A:p.A908T,OBSCN:NM_052843:exon9:c.G2722A:p.A908T,OBSCN:NM_001271223:exon10:c.G2998A:p.A1000T exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon9:c.G2722A:p.A908T,ENSG00000154358:ENST00000422127:exon9:c.G2722A:p.A908T,ENSG00000154358:ENST00000570156:exon10:c.G2998A:p.A1000T Score=325;Name=lod=28 NA 1q42.13 NA NA NA NA rs1757153 0.26 0.26 NA 0.284145 0.3618 0.1756 0.3559 0.3351 0.1963 0.3 0.16 0.33 0.25 0.3471 0.33 0.28 T 0.978 D 0.695 P 0.006 N 0.000 P 2.64 M 3.36 T -0.879 T 0.000 T 0.224 1.944 12.46 3.5 1.211 2.707 12.898 1.944173 1.944173 NA NA NA NA NA NA 13.1244334 348 1 48764419 48764419 C T exonic SPATA6 NA nonsynonymous SNV SPATA6:NM_019073:exon13:c.G1433A:p.C478Y exonic ENSG00000132122 NA nonsynonymous SNV ENSG00000132122:ENST00000396199:exon12:c.G1217A:p.C406Y,ENSG00000132122:ENST00000371843:exon13:c.G1385A:p.C462Y,ENSG00000132122:ENST00000371847:exon13:c.G1433A:p.C478Y Score=600;Name=lod=366 NA 1p33 NA NA NA NA rs1056042 0.31 0.31 0.297 0.273962 0.4254 0.3492 0.3329 0.025 0.3354 0.43 0.36 0.35 0.05 0.3636 0.43 0.15 T 0.997 D 0.994 D 0.000 D 0.104 P 0.69 N 2.64 T -0.865 T 0.000 T 0.858 3.846 19.54 4.78 2.474 1.488 13.188 3.846395 3.846395 0.07 0.421395 0.08897 ID=COSM146506;OCCURENCE=1(stomach) 0.319 NA 13.1229384 348 5 52201722 52201722 C T exonic ITGA1 NA nonsynonymous SNV ITGA1:NM_181501:exon12:c.C1439T:p.T480M exonic ENSG00000213949 NA nonsynonymous SNV ENSG00000213949:ENST00000282588:exon12:c.C1439T:p.T480M Score=391;Name=lod=52 NA 5q11.2 NA NA NA NA rs4145748 0.1 0.1 0.082 0.0960463 0.0596 0.1488 0.2695 0.0189 0.0603 0.06 0.16 0.2 0.02 0.09 0.2 0.1 T 0.941 P 0.587 P 0.000 D 0.002 P 1.79 L 2.7 T -1.085 T 0.000 T 0.165 3.285 17.03 5.77 2.890 1.784 15.830 3.28452 3.28452 0.01 0.062907 0.031094 ID=COSM149831;OCCURENCE=1(stomach) 0.08 NA 13.1208264 348 16 57756643 57756643 C T exonic CCDC135 NA nonsynonymous SNV CCDC135:NM_032269:exon10:c.C1298T:p.P433L exonic ENSG00000159625 NA nonsynonymous SNV ENSG00000159625:ENST00000336825:exon9:c.C1103T:p.P368L,ENSG00000159625:ENST00000394337:exon10:c.C1298T:p.P433L,ENSG00000159625:ENST00000360716:exon11:c.C1298T:p.P433L Score=441;Name=lod=83 NA 16q21 NA NA NA NA rs3809611 0.2 0.2 0.205 0.210663 0.2465 0.1548 0.1441 0.2322 0.2495 0.25 0.15 0.16 0.2 0.231 0.25 0.09 T 0.826 P 0.201 B 0.000 D 0.000 P 2.92 M 3.22 T -0.974 T 0.000 T 0.422 3.162 16.58 5.12 2.384 3.831 17.142 3.162039 3.162039 0 0.235116 0.220655 NA 0.145 NA 13.1207174 348 1 159854251 159854251 T C exonic CCDC19 NA nonsynonymous SNV CCDC19:NM_012337:exon7:c.A872G:p.E291G exonic ENSG00000213085 NA nonsynonymous SNV ENSG00000213085:ENST00000368099:exon7:c.A872G:p.E291G,ENSG00000213085:ENST00000426543:exon7:c.A617G:p.E206G Score=304;Name=lod=23 NA 1q23.2 NA NA NA NA rs16842789 0.11 0.11 0.106 0.104433 0.0666 0.0556 0.0591 0.2284 0.0583 0.07 0.09 0.06 0.24 0.0774 0.24 . . 0.892 P 0.657 P 0.017 N 0.007 P 2.275 M 2.73 T -1.116 T 0.041 T 0.107 2.907 15.69 5.09 2.032 6.500 13.108 2.906712 2.906712 0 0.070465 0.195869 NA 0.159 NA 13.1188684 348 5 52214581 52214581 G A exonic ITGA1 NA nonsynonymous SNV ITGA1:NM_181501:exon16:c.G2008A:p.V670I exonic ENSG00000213949 NA nonsynonymous SNV ENSG00000213949:ENST00000282588:exon16:c.G2008A:p.V670I Score=594;Name=lod=346 NA 5q11.2 NA NA NA NA rs2279587 0.1 0.1 0.083 0.0976438 0.0616 0.1548 0.2709 0.0182 0.0603 0.06 0.16 0.19 0.02 0.0909 0.19 0.46 T 0.722 P 0.576 P 0.000 D 0.019 P 1.21 L 1.12 T -1.086 T 0.000 T 0.095 2.817 15.38 5.51 2.738 1.855 13.053 2.817003 2.817003 0.22 0.063503 0.032002 ID=COSM149832;OCCURENCE=1(stomach) 0.08 NA 13.1173304 349 21 43281767 43281767 C A exonic PRDM15 NA nonsynonymous SNV PRDM15:NM_022115:exon7:c.G796T:p.V266L exonic ENSG00000141956 NA nonsynonymous SNV ENSG00000141956:ENST00000269844:exon7:c.G796T:p.V266L,ENSG00000141956:ENST00000433067:exon7:c.G796T:p.V266L NA NA 21q22.3 NA Name=BATF Name=5 NA rs62621406 0.04 0.04 0.024 0.0467252 0.0626 0.005 0.0476 0.0083 0.1247 0.07 0.0017 0.06 0.01 0.0701 0.088 0.02 D 0.0 B 0.0 B . . 1.000 N 0 N 2.96 T -0.980 T 0.001 T 0.023 -0.043 3.797 -4.84 -3.390 -3.706 2.647 -0.042558 NA 0 0.087674 0.01566 NA 0.065 NA 13.1129594 349 8 144994888 144994888 G A exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon32:c.C9059T:p.A3020V,PLEC:NM_201379:exon32:c.C9035T:p.A3012V,PLEC:NM_201380:exon32:c.C9512T:p.A3171V,PLEC:NM_201381:exon32:c.C9005T:p.A3002V,PLEC:NM_201382:exon32:c.C9101T:p.A3034V,PLEC:NM_201383:exon32:c.C9113T:p.A3038V,PLEC:NM_201384:exon32:c.C9101T:p.A3034V,PLEC:NM_000445:exon33:c.C9182T:p.A3061V exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon32:c.C9512T:p.A3171V,ENSG00000178209:ENST00000345136:exon32:c.C9101T:p.A3034V,ENSG00000178209:ENST00000354589:exon32:c.C9101T:p.A3034V,ENSG00000178209:ENST00000354958:exon32:c.C9035T:p.A3012V,ENSG00000178209:ENST00000356346:exon32:c.C9059T:p.A3020V,ENSG00000178209:ENST00000357649:exon32:c.C9113T:p.A3038V,ENSG00000178209:ENST00000398774:exon32:c.C9005T:p.A3002V,ENSG00000178209:ENST00000527096:exon32:c.C9170T:p.A3057V,ENSG00000178209:ENST00000436759:exon33:c.C9182T:p.A3061V NA NA 8q24.3 Score=784;Name=V$HEN1_01 NA NA NA rs35858667 0.04 0.04 0.039 0.0275559 0.0905 NA 0.0519 0.003 0.0072 0.08 0.0035 0.06 0.01 0.0568 0.08 0.01 D 0.072 B 0.04 B 0.025 U 1.000 N 0.69 N -0.68 T -0.989 T 0.015 T 0.154 -0.123 3.399 2.84 1.849 3.149 12.553 -0.122623 NA 0.02 0.073086 0.014068 NA 0.029 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078904.3;CLNDSDB=.;CLNDSDBID=. 13.1129474 349 1 118482149 118482149 C T exonic WDR3 NA nonsynonymous SNV WDR3:NM_006784:exon6:c.C629T:p.A210V exonic ENSG00000065183 NA nonsynonymous SNV ENSG00000065183:ENST00000349139:exon6:c.C629T:p.A210V NA NA 1p12 NA NA NA NA rs34973445 0.04 0.04 0.033 0.0247604 0.0855 NA 0.0403 0.0038 0.0051 0.08 NA 0.06 0.01 0.0554 0.081 0.01 D 0.015 B 0.051 B 0.005 N 1.000 D 2.785 M 0.14 T -0.692 T 0.184 T 0.148 3.27 16.97 5.0 2.476 5.589 15.762 3.270047 3.270047 0.09 0.080698 0.01566 NA 0.043 NA 13.1117354 349 5 38955796 38955796 G A exonic RICTOR NA nonsynonymous SNV RICTOR:NM_152756:exon26:c.C2510T:p.S837F exonic ENSG00000164327 NA nonsynonymous SNV ENSG00000164327:ENST00000296782:exon26:c.C2510T:p.S837F,ENSG00000164327:ENST00000357387:exon26:c.C2510T:p.S837F Score=675;Name=lod=735 Name=Obesity-related traits 5p13.1 NA NA NA NA rs2043112 0.39 0.39 0.398 0.363818 0.4284 0.4494 0.3631 0.2648 0.3436 0.43 0.49 0.36 0.25 0.3933 0.49 0 D 0.207 B 0.074 B 0.000 D 0.433 P 0 N 0.93 T -0.951 T 0.000 T 0.216 0.53 6.873 4.77 1.258 4.186 7.101 0.530458 NA 0.08 0.401047 0.285293 NA 0.413 NA 13.1105864 349 9 107456892 107456892 C G exonic OR13D1 NA nonsynonymous SNV OR13D1:NM_001004484:exon1:c.C190G:p.L64V exonic ENSG00000179055 NA nonsynonymous SNV ENSG00000179055:ENST00000318763:exon1:c.C190G:p.L64V Score=289;Name=lod=20 NA 9q31.1 Score=796;Name=V$BACH1_01 NA NA NA rs13294411 0.04 0.04 0.034 0.0533147 0.0686 0.002 0.0533 0.0068 0.1534 0.07 0.0017 0.06 0.01 0.0734 0.086 0.02 D 0.946 P 0.486 P 0.000 D 0.983 N 3.36 M 4.57 T -1.036 T 0.001 T 0.138 2.253 13.49 1.74 0.730 -0.206 6.769 2.253189 2.253189 0.04 0.086279 0.015207 NA 0.043 NA 13.1050544 350 7 73097720 73097720 G C exonic DNAJC30 NA nonsynonymous SNV DNAJC30:NM_032317:exon1:c.C34G:p.L12V exonic ENSG00000176410 NA nonsynonymous SNV ENSG00000176410:ENST00000395176:exon1:c.C34G:p.L12V NA NA 7q11.23 Score=774;Name=V$PAX5_01 Name=TBP,USF-1,Pol2-4H8,YY1,FOXA1_(C-20),CHD2_(N-1250),GTF2F1_(RAP-74),NF-YB,Max,YY1_(C-20),SP1,Pol2,NF-YA Name=13 NA rs28494095 0.09 0.09 0.107 0.0958466 0.0785 0.0198 0.1239 0.171 0.0706 0.08 0.02 0.12 0.15 0.0835 0.15 0.21 T 0.002 B 0.005 B 0.199 N 1.000 P 0.695 N 0.28 T -1.119 T 0.001 T 0.049 2.136 13.1 -9.05 -2.087 -1.088 3.705 2.135786 2.135786 0.25 0.070933 0.152265 NA 0.065 NA 13.1004004 350 2 128477084 128477084 G C exonic WDR33 NA nonsynonymous SNV WDR33:NM_018383:exon16:c.C2515G:p.P839A exonic ENSG00000136709 NA nonsynonymous SNV ENSG00000136709:ENST00000322313:exon16:c.C2515G:p.P839A Score=533;Name=lod=196 NA 2q14.3 NA NA NA NA rs61730415 0.05 0.05 0.055 0.0571086 0.0716 0.0427 0.049 0.0582 0.0613 0.07 0.02 0.04 0.06 0.0754 0.088 0.59 T 0.056 B 0.012 B 0.000 D 0.000 P 0.345 N -2.45 D -0.732 T 0.034 T 0.174 3.168 16.6 4.5 1.377 5.164 15.503 3.167656 3.167656 0.01 0.087579 0.065138 NA 0.065 NA 13.0987544 351 1 26527951 26527951 G A exonic CATSPER4 NA nonsynonymous SNV CATSPER4:NM_198137:exon9:c.G1306A:p.D436N exonic ENSG00000188782 NA nonsynonymous SNV ENSG00000188782:ENST00000338855:exon9:c.G1306A:p.D436N,ENSG00000188782:ENST00000456354:exon9:c.G1306A:p.D436N NA NA 1p36.11 NA Name=GABP,TAL1_(SC-12984),E2F4,SP2_(SC-643),JunD,E2F6_(H-50),eGFP-JunD,E2F6,c-Jun,CTCF_(SC-5916),NF-YB,Max,CCNT2,c-Myc,CEBPB,CHD2_(N-1250),USF-1,CTCF Name=91 NA rs6657616 0.21 0.21 0.209 0.210264 0.2654 0.0218 0.1657 0.3744 0.1575 0.28 0.02 0.19 0.36 0.2235 0.36 0.12 T 0.779 P 0.251 B 0.029 N 1.000 P 1.355 L -4.36 D -1.190 T 0.000 T 0.08 3.634 18.48 3.1 2.393 1.622 5.74 3.633953 3.633953 NA 0.257674 0.342714 NA 0.217 NA 13.0867594 352 7 150490376 150490376 C T exonic TMEM176B NA nonsynonymous SNV TMEM176B:NM_001101314:exon4:c.G289A:p.A97T,TMEM176B:NM_001101311:exon5:c.G400A:p.A134T,TMEM176B:NM_001101312:exon5:c.G400A:p.A134T,TMEM176B:NM_014020:exon5:c.G400A:p.A134T exonic ENSG00000106565 NA nonsynonymous SNV ENSG00000106565:ENST00000429904:exon4:c.G400A:p.A134T,ENSG00000106565:ENST00000450753:exon4:c.G289A:p.A97T,ENSG00000106565:ENST00000326442:exon5:c.G400A:p.A134T,ENSG00000106565:ENST00000434545:exon5:c.G400A:p.A134T,ENSG00000106565:ENST00000447204:exon5:c.G400A:p.A134T,ENSG00000106565:ENST00000492607:exon6:c.G400A:p.A134T Score=300;Name=lod=22 NA 7q36.1 NA NA NA NA rs2072443 0.4 0.4 0.401 0.407548 0.4155 0.5278 0.3357 0.2935 0.4806 0.41 0.55 0.34 0.27 0.4188 0.55 0.04 D 0.999 D 0.985 D 0.705 N 0.644 P 2.17 M 4.23 T -0.902 T 0.000 T 0.237 1.955 12.5 2.33 2.139 0.396 4.849 1.955452 1.955452 0.02 0.417442 0.311847 NA 0.297 NA 13.0815914 352 15 81598269 81598269 T G exonic IL16 NA nonsynonymous SNV IL16:NM_004513:exon5:c.T1338G:p.N446K,IL16:NM_172217:exon16:c.T3441G:p.N1147K,IL16:NM_001172128:exon17:c.T3441G:p.N1147K exonic ENSG00000172349 NA nonsynonymous SNV ENSG00000172349:ENST00000394652:exon5:c.T1338G:p.N446K,ENSG00000172349:ENST00000302987:exon16:c.T3441G:p.N1147K,ENSG00000172349:ENST00000394660:exon17:c.T3441G:p.N1147K,ENSG00000172349:ENST00000559388:exon19:c.T3303G:p.N1101K NA NA 15q25.1 Score=860;Name=V$YY1_01 NA NA NA rs11556218 0.15 0.15 0.153 0.146366 0.0746 0.1647 0.1614 0.2398 0.0644 0.07 0.19 0.14 0.24 0.0969 0.24 0.07 T 1.0 D 0.997 D 0.003 N 0.010 P 0.48 N 1.65 T -1.076 T 0.000 T 0.122 0.96 8.917 -6.3 -1.160 -1.379 11.181 0.96014 NA 0.01 0.083605 0.200182 NA 0.21 NA 13.0782284 353 3 179322385 179322385 A C exonic MRPL47 NA nonsynonymous SNV MRPL47:NM_020409:exon1:c.T28G:p.C10G exonic ENSG00000136522 NA nonsynonymous SNV ENSG00000136522:ENST00000259038:exon1:c.T28G:p.C10G,ENSG00000136522:ENST00000476781:exon1:c.T28G:p.C10G NA NA 3q26.33 NA Name=ELK4,POU2F2,GABP,TAF1,Pol2(b),MafK_(SC-477),Sin3Ak-20,YY1_(C-20),TAF7_(SQ-8),Pol2-4H8,eGFP-JunD,Pol2,SP1,TCF4,YY1,MafK_(ab50322),Oct-2,ELF1_(SC-631),NFKB,ZEB1_(SC-25388),HEY1,TBP,GTF2F1_(RAP-74),IRF1,THAP1_(SC-98174),GTF2B Name=148 NA rs2339844 0.1 0.1 0.095 0.120807 0.0795 0.1002 0.1455 0.1044 0.1892 0.08 0.1 0.14 0.12 0.1018 0.23 0.15 T 0.005 B 0.004 B 0.000 D 0.000 P 1.5 L 1.26 T -1.095 T 0.001 T 0.252 1.992 12.62 5.12 2.276 2.637 11.489 1.991639 1.991639 0.04 0.078488 0.092374 NA 0.167 NA 13.0735454 353 10 129906427 129906427 C A exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.G2597T:p.G866V,MKI67:NM_002417:exon13:c.G3677T:p.G1226V exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.G2597T:p.G866V,ENSG00000148773:ENST00000368654:exon13:c.G3677T:p.G1226V NA NA 10q26.2 NA NA NA NA rs41306015 0.04 0.04 0.037 0.0397364 0.0944 NA 0.0648 0.0008 0.0593 0.09 0.0017 0.06 0.0041 0.0698 0.099 0.21 T 1.0 D 1.0 D 0.331 N 0.999 P 2.165 M 4.0 T -1.050 T 0.001 T 0.366 2.499 14.32 3.33 1.875 1.029 13.353 2.499339 2.499339 0.03 0.098488 0.019065 NA 0.051 NA 13.0706454 354 11 73020846 73020846 G T exonic ARHGEF17 NA nonsynonymous SNV ARHGEF17:NM_014786:exon1:c.G1163T:p.R388L exonic ENSG00000110237 NA nonsynonymous SNV ENSG00000110237:ENST00000263674:exon1:c.G1163T:p.R388L Score=336;Name=lod=31 NA 11q13.4 Score=823;Name=V$OLF1_01 NA NA NA rs3741151 0.05 0.05 0.036 0.0489217 0.0924 0.0099 0.0403 0.0295 0.0767 0.1 0.01 0.02 0.02 0.0829 0.1 0 D 0.001 B 0.001 B 0.106 N 1.000 P 0.895 L -0.55 T -0.880 T 0.009 T 0.113 2.802 15.33 3.1 2.244 2.467 12.005 2.802497 2.802497 0.01 0.095673 0.036106 NA 0.08 NA 13.0623604 354 12 49691250 49691250 A G exonic PRPH NA synonymous SNV PRPH:NM_006262:exon6:c.A1107G:p.K369K exonic ENSG00000135406 NA synonymous SNV ENSG00000135406:ENST00000257860:exon6:c.A1107G:p.K369K Score=675;Name=lod=739 NA 12q13.12 Score=772;Name=V$HTF_01 Name=CTCFL_(SC-98982),YY1_(C-20),SMC3_(ab9263),Pol2,CTCF,Pol2-4H8,ZNF263,CTCF_(SC-5916),c-Myc Name=42 NA rs73112143 0.2 0.2 0.197 0.205272 0.2048 0.0367 0.1484 0.3979 0.1595 0.21 0.05 0.17 0.38 0.2012 0.38 . . . . . . . . 0.000 P . . . . -0.964 T 0.000 T . 3.596 18.31 3.65 0.690 4.851 9.756 3.596407 3.596407 NA 0.200279 0.351566 NA 0.246 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057157.1;CLNDSDB=.;CLNDSDBID=. 13.0603876 354 10 102016044 102016044 C T exonic CWF19L1 NA nonsynonymous SNV CWF19L1:NM_018294:exon5:c.G479A:p.C160Y exonic ENSG00000095485 NA nonsynonymous SNV ENSG00000095485:ENST00000354105:exon5:c.G479A:p.C160Y Score=558;Name=lod=248 NA 10q24.31 Score=860;Name=V$HMX1_01 NA NA NA rs2270962 0.22 0.22 0.215 0.250998 0.0775 0.1419 0.1311 0.5998 0.1554 0.09 0.15 0.13 0.56 0.1306 0.56 0.25 T 0.0 B 0.0 B 0.000 N 0.000 P -0.895 N 1.67 T -0.961 T 0.000 T 0.114 1.678 11.57 4.85 1.152 1.883 9.637 1.677721 1.677721 0.16 0.066163 0.515207 ID=COSM147028;OCCURENCE=1(stomach) 0.181 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116858.2;CLNDSDB=.;CLNDSDBID=. 13.0590704 354 16 72156842 72156842 T G exonic PMFBP1 NA nonsynonymous SNV PMFBP1:NM_031293:exon19:c.A2739C:p.K913N,PMFBP1:NM_001160213:exon20:c.A2304C:p.K768N exonic ENSG00000118557 NA nonsynonymous SNV ENSG00000118557:ENST00000537792:exon3:c.A237C:p.K79N,ENSG00000118557:ENST00000237353:exon19:c.A2739C:p.K913N,ENSG00000118557:ENST00000355636:exon19:c.A2304C:p.K768N,ENSG00000118557:ENST00000537465:exon19:c.A2754C:p.K918N Score=525;Name=lod=182 NA 16q22.2 NA NA NA NA rs16973716 0.43 0.43 0.435 0.481629 0.4105 0.3413 0.3112 0.6263 0.6247 0.42 0.35 0.35 0.59 0.442 0.59 0.06 T 0.999 D 0.996 D 0.000 D 0.447 P 2.08 M 2.3 T -0.886 T 0.000 T 0.13 3.456 17.71 3.78 0.893 1.490 7.127 3.45639 3.45639 0.03 0.422209 0.55232 NA 0.536 NA 13.0586244 354 7 11509561 11509561 G C exonic THSD7A NA nonsynonymous SNV THSD7A:NM_015204:exon9:c.C2313G:p.D771E exonic ENSG00000005108 NA nonsynonymous SNV ENSG00000005108:ENST00000423059:exon9:c.C2313G:p.D771E Score=508;Name=lod=155 NA 7p21.3 NA NA NA NA rs2285744 0.27 0.27 0.275 0.278754 0.4125 0.2252 0.2435 0.1195 0.4366 0.4 0.22 0.28 0.14 0.4303 0.43 0.38 T 1.0 D 0.999 D 0.000 D 0.000 P 3.13 M 2.08 T -0.927 T 0.000 T 0.411 4.157 21.5 3.74 0.801 2.051 8.898 4.156823 4.156823 0 0.432825 0.158281 NA 0.384 NA 13.0577084 354 17 648186 648186 G A exonic GEMIN4 NA nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C3097T:p.R1033C exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000576778:exon1:c.C3064T:p.R1022C,ENSG00000179409:ENST00000319004:exon2:c.C3097T:p.R1033C Score=516;Name=lod=166 NA 17p13.3 NA NA NA NA rs7813 0.69 0.69 0.726 0.707069 0.5905 0.7232 0.6398 0.8782 0.6268 0.59 0.71 0.61 0.87 0.6245 0.87 0.01 D 0.995 D 0.528 P 0.000 D 0.000 P 1.61 L 3.24 T -1.158 T 0.000 T 0.431 3.373 17.37 5.71 2.709 7.130 18.856 3.372854 3.372854 0.01 0.562831 0.835938 NA 0.63 NA 13.0555024 355 11 67202156 67202156 C T exonic RPS6KB2 NA nonsynonymous SNV RPS6KB2:NM_003952:exon14:c.C1259T:p.A420V exonic ENSG00000175634 NA nonsynonymous SNV ENSG00000175634:ENST00000312629:exon14:c.C1259T:p.A420V Score=441;Name=lod=83 NA 11q13.2 NA Name=Pol2-4H8,Oct-2,POU2F2,Pol2 Name=6 NA rs13859 0.5 0.5 0.503 0.486821 0.4225 0.3264 0.5692 0.8079 0.226 0.44 0.32 0.54 0.77 0.4291 0.77 0.08 T 0.003 B 0.009 B 0.000 D 0.000 P 0 N -0.32 T -0.963 T 0.000 T 0.067 2.597 14.64 4.45 2.300 6.850 15.058 2.596768 2.596768 0.01 0.42784 0.734837 ID=COSM1475816,COSM429715;OCCURENCE=1(breast) 0.58 NA 13.0538934 355 19 18285944 18285944 G A exonic IFI30 NA nonsynonymous SNV IFI30:NM_006332:exon2:c.G227A:p.R76Q exonic ENSG00000216490 NA nonsynonymous SNV ENSG00000216490:ENST00000407280:exon2:c.G227A:p.R76Q,ENSG00000216490:ENST00000597802:exon3:c.G227A:p.R76Q Score=333;Name=lod=30 NA 19p13.11 NA NA Name=2 NA rs11554159 0.19 0.19 0.213 0.181709 0.2704 0.0655 0.1816 0.2398 0.1319 0.27 0.07 0.2 0.22 0.2554 0.27 0.15 T 0.997 D 0.757 P . . 0.000 P 1.525 L . . -1.089 T 0.000 T 0.364 3.402 17.49 4.22 1.230 5.701 12.498 3.402221 3.402221 0.07 0.25648 0.219128 NA 0.225 NA 13.0510534 355 9 32634467 32634467 T C exonic TAF1L NA nonsynonymous SNV TAF1L:NM_153809:exon1:c.A1111G:p.M371V exonic ENSG00000122728 NA nonsynonymous SNV ENSG00000122728:ENST00000242310:exon1:c.A1111G:p.M371V Score=719;Name=lod=1119 NA 9p21.1 NA NA NA NA rs17219559 0.05 0.05 0.054 0.0397364 0.1113 0.001 0.0951 0.0038 0.0153 0.11 0.0017 0.09 0.01 0.071 0.11 0.01 D 0.896 P 0.54 P 0.000 D 0.000 P 2.485 M 0.71 T -1.020 T 0.004 T 0.198 2.446 14.14 1.04 0.426 5.066 5.860 2.445506 2.445506 NA 0.102442 0.015887 NA 0.058 NA 13.0485914 356 16 70170222 70170222 G T exonic PDPR NA nonsynonymous SNV PDPR:NM_017990:exon10:c.G1123T:p.V375L exonic ENSG00000090857 NA nonsynonymous SNV ENSG00000090857:ENST00000398122:exon8:c.G823T:p.V275L,ENSG00000090857:ENST00000565186:exon8:c.G1123T:p.V375L,ENSG00000090857:ENST00000288050:exon10:c.G1123T:p.V375L,ENSG00000090857:ENST00000568530:exon10:c.G1123T:p.V375L NA NA 16q22.1 NA NA NA NA rs59034887 0.14 0.14 0.118 NA NA NA NA NA NA 0.15 0.09 0.12 0.18 0.1536 0.18 0.81 T 0.004 B 0.015 B 0.000 D 1.000 D 0.365 N -1.96 D -1.101 T 0.001 T 0.133 2.031 12.75 4.42 1.985 7.777 11.983 2.030632 2.030632 0.15 0.136211 0.152108 ID=COSM148099;OCCURENCE=1(stomach) 0.087 NA 13.0435224 356 6 42891022 42891022 G A exonic PTCRA NA nonsynonymous SNV PTCRA:NM_001243168:exon2:c.G316A:p.V106I,PTCRA:NM_138296:exon2:c.G316A:p.V106I,PTCRA:NM_001243169:exon3:c.G241A:p.V81I exonic ENSG00000171611 NA nonsynonymous SNV ENSG00000171611:ENST00000304672:exon2:c.G316A:p.V106I,ENSG00000171611:ENST00000441198:exon3:c.G241A:p.V81I Score=358;Name=lod=38 NA 6p21.1 NA NA NA NA rs9471966 0.23 0.23 0.257 0.240415 0.2893 0.0238 0.2133 0.3994 0.2178 0.28 0.03 0.23 0.41 0.2383 0.41 0.07 T 0.995 D 0.894 P 0.001 D 0.000 P 1.1 L 0.58 T -0.864 T 0.141 T 0.104 4.363 23 4.82 2.668 3.635 9.602 4.362653 4.362653 0.1 0.264884 0.345438 NA 0.254 NA 13.0408494 356 5 80600619 80600619 C G exonic ZCCHC9 NA nonsynonymous SNV ZCCHC9:NM_001131035:exon2:c.C43G:p.P15A,ZCCHC9:NM_001131036:exon2:c.C43G:p.P15A,ZCCHC9:NM_032280:exon2:c.C43G:p.P15A exonic ENSG00000131732 NA nonsynonymous SNV ENSG00000131732:ENST00000254037:exon1:c.C43G:p.P15A,ENSG00000131732:ENST00000380199:exon2:c.C43G:p.P15A,ENSG00000131732:ENST00000407610:exon2:c.C43G:p.P15A,ENSG00000131732:ENST00000438268:exon2:c.C43G:p.P15A Score=304;Name=lod=23 NA 5q14.1 NA NA NA NA rs16878594 0.06 0.06 0.058 0.0654952 0.1123 0.0069 0.0692 0.0605 0.0818 0.1 0.0035 0.08 0.05 0.0824 0.1 0.93 T 0.002 B 0.002 B 0.000 D 0.941 D 0.235 N 0.97 T -1.102 T 0.002 T 0.051 0.755 7.999 4.59 2.559 2.765 12.468 0.754886 NA 0.89 0.100465 0.064458 NA 0.101 NA 13.0381684 356 5 125887715 125887715 T G exonic ALDH7A1 NA nonsynonymous SNV ALDH7A1:NM_001202404:exon12:c.A1204C:p.K402Q,ALDH7A1:NM_001182:exon14:c.A1315C:p.K439Q,ALDH7A1:NM_001201377:exon14:c.A1231C:p.K411Q exonic ENSG00000164904 NA nonsynonymous SNV ENSG00000164904:ENST00000447989:exon12:c.A1204C:p.K402Q,ENSG00000164904:ENST00000553117:exon12:c.A1123C:p.K375Q,ENSG00000164904:ENST00000409134:exon14:c.A1315C:p.K439Q Score=556;Name=lod=242 NA 5q23.2 Score=750;Name=V$STAT5A_02 NA NA NA rs12514417 0.1 0.1 0.077 0.096845 0.1014 0.1667 0.1571 0.0219 0.0787 0.09 0.15 0.13 0.02 0.1059 0.15 0.24 T 0.019 B 0.026 B 0.000 N 0.000 P 1.475 L -2.85 D -0.814 T 0.008 T 0.24 1.974 12.56 3.52 0.900 4.745 11.714 1.974123 1.974123 0.24 0.088721 0.044485 NA 0.058 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116310.2|RCV000123625.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.0373124 357 2 225362478 225362478 C T exonic CUL3 NA nonsynonymous SNV CUL3:NM_001257197:exon11:c.G1501A:p.V501I,CUL3:NM_001257198:exon12:c.G1717A:p.V573I,CUL3:NM_003590:exon12:c.G1699A:p.V567I exonic ENSG00000036257 NA nonsynonymous SNV ENSG00000036257:ENST00000344951:exon11:c.G1501A:p.V501I,ENSG00000036257:ENST00000264414:exon12:c.G1699A:p.V567I,ENSG00000036257:ENST00000409096:exon12:c.G1627A:p.V543I,ENSG00000036257:ENST00000409777:exon12:c.G1627A:p.V543I Score=645;Name=lod=558 NA 2q36.2 Score=848;Name=V$NKX61_01 NA NA NA rs3738952 0.13 0.13 0.104 0.139377 0.0845 0.2391 0.1859 0.0129 0.2311 0.08 0.24 0.17 0.02 0.128 0.24 0.16 T 0.0 B 0.014 B 0.000 D 0.000 P -0.345 N -0.76 T -1.111 T 0.000 T 0.174 3.015 16.06 6.16 2.937 2.648 20.860 3.015369 3.015369 0.19 0.094302 0.026101 NA 0.123 NA 13.0265314 358 5 96363459 96363459 A G exonic LNPEP NA nonsynonymous SNV LNPEP:NM_005575:exon17:c.A2887G:p.I963V,LNPEP:NM_175920:exon17:c.A2845G:p.I949V exonic ENSG00000113441 NA nonsynonymous SNV ENSG00000113441:ENST00000231368:exon17:c.A2887G:p.I963V,ENSG00000113441:ENST00000395770:exon17:c.A2845G:p.I949V Score=485;Name=lod=125 NA 5q15 NA NA NA NA rs11746232 0.06 0.06 0.057 0.0706869 0.1262 0.003 0.0692 0.0265 0.1442 0.12 0.01 0.07 0.02 0.0938 0.12 0.04 D 0.006 B 0.038 B 0.000 D 0.000 P 1.67 L 3.54 T -1.050 T 0.000 T 0.098 3.007 16.03 5.83 2.229 4.550 15.846 3.007313 3.007313 0.01 0.096047 0.032229 NA 0.181 NA 13.0172864 359 14 64908845 64908845 G A exonic MTHFD1 NA nonsynonymous SNV MTHFD1:NM_005956:exon20:c.G1958A:p.R653Q exonic ENSG00000100714 NA nonsynonymous SNV ENSG00000100714:ENST00000216605:exon20:c.G2126A:p.R709Q,ENSG00000100714:ENST00000545908:exon20:c.G2126A:p.R709Q,ENSG00000100714:ENST00000555709:exon20:c.G1958A:p.R653Q Score=456;Name=lod=95 NA 14q23.3 Score=869;Name=V$CHOP_01 NA NA NA rs2236225 0.35 0.35 0.304 0.341853 0.4294 0.1984 0.5447 0.1581 0.5041 0.43 0.23 0.53 0.21 0.4354 0.53 0.15 T 0.33 B 0.026 B 0.000 D 0.000 P 1.02 L 1.98 T -0.909 T 0.000 T 0.398 2.668 14.88 4.97 2.941 5.247 5.933 2.667518 2.667518 0.09 0.457442 0.214026 NA 0.428 CLINSIG=other;CLNDBN=Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000014603.1;CLNDSDB=.;CLNDSDBID=. 13.0110914 359 1 207074905 207074905 T C exonic IL24 NA nonsynonymous SNV IL24:NM_001185156:exon5:c.T373C:p.Y125H,IL24:NM_006850:exon5:c.T370C:p.Y124H exonic ENSG00000162892 NA nonsynonymous SNV ENSG00000162892:ENST00000294984:exon5:c.T370C:p.Y124H,ENSG00000162892:ENST00000391929:exon5:c.T373C:p.Y125H Score=300;Name=lod=22 NA 1q32.1 NA NA NA NA rs1150258 0.36 0.36 0.353 0.315695 0.4533 0.2123 0.438 0.2905 0.228 0.45 0.23 0.5 0.3 0.3976 0.5 0.13 T 1.0 D 0.999 D 0.000 D 0.000 P 2.14 M 2.25 T -0.915 T 0.000 T 0.225 2.461 14.19 2.38 0.322 1.076 3.697 2.460607 2.460607 NA 0.471512 0.295733 NA 0.478 NA 13.0109214 360 14 20295627 20295627 C G exonic OR4N2 NA nonsynonymous SNV OR4N2:NM_001004723:exon1:c.C20G:p.T7R exonic ENSG00000176294 NA nonsynonymous SNV ENSG00000176294:ENST00000315947:exon1:c.C20G:p.T7R,ENSG00000176294:ENST00000568211:exon1:c.C20G:p.T7R,ENSG00000176294:ENST00000557677:exon2:c.C20G:p.T7R,ENSG00000176294:ENST00000557414:exon5:c.C20G:p.T7R NA NA 14q11.2 NA NA NA NA rs72663752 0.08 0.08 0.063 0.0726837 0.1093 0.1002 0.1023 0.0174 0.0603 0.11 0.09 0.1 0.01 0.1092 0.11 0.09 T 0.857 P 0.517 P 0.000 D 1.000 N 2.25 M 5.72 T -1.147 T 0.006 T 0.431 1.467 10.85 4.41 2.431 2.603 14.877 1.467128 1.467128 0 0.114767 0.044258 NA 0.08 NA 13.0000664 360 19 2396611 2396611 C T exonic TMPRSS9 NA nonsynonymous SNV TMPRSS9:NM_182973:exon2:c.C217T:p.R73W exonic ENSG00000178297 NA nonsynonymous SNV ENSG00000178297:ENST00000332578:exon2:c.C217T:p.R73W Score=265;Name=lod=16 NA 19p13.3 NA NA NA NA rs17685098 0.38 0.38 0.343 0.389377 0.2286 0.504 0.4524 0.4206 0.3497 0.24 0.53 0.4 0.41 0.359 0.53 0.01 D 0.997 D 0.817 P 0.220 N 0.984 P 0.69 N -2.36 D -0.986 T 0.000 T 0.123 2.554 14.5 2.94 0.795 1.370 10.228 2.553839 2.553839 0 0.246279 0.38851 NA 0.355 NA 12.9994544 360 18 14537949 14537949 A G exonic POTEC NA nonsynonymous SNV POTEC:NM_001137671:exon3:c.T661C:p.C221R exonic ENSG00000183206 NA nonsynonymous SNV ENSG00000183206:ENST00000358970:exon3:c.T661C:p.C221R,ENSG00000183206:ENST00000511306:exon3:c.T661C:p.C221R Score=410;Name=lod=62 NA 18p11.21 NA NA NA NA rs7505568 0.25 0.25 0.134 NA NA NA NA NA NA 0.15 0.47 0.25 0.13 0.1981 0.47 0 D 0.996 D 0.996 D . . 0.000 P 2.52 M -0.13 T -0.991 T 0.000 T 0.495 1.905 12.33 1.4 0.898 5.428 4.972 1.905479 1.905479 NA 0.139849 0.142341 NA NA NA 12.9953844 360 16 70182390 70182390 T G exonic PDPR NA nonsynonymous SNV PDPR:NM_017990:exon17:c.T1986G:p.N662K exonic ENSG00000090857 NA nonsynonymous SNV ENSG00000090857:ENST00000567896:exon2:c.T60G:p.N20K,ENSG00000090857:ENST00000563930:exon3:c.T60G:p.N20K,ENSG00000090857:ENST00000567046:exon3:c.T60G:p.N20K,ENSG00000090857:ENST00000569042:exon3:c.T135G:p.N45K,ENSG00000090857:ENST00000542659:exon4:c.T21G:p.N7K,ENSG00000090857:ENST00000398122:exon15:c.T1686G:p.N562K,ENSG00000090857:ENST00000288050:exon17:c.T1986G:p.N662K,ENSG00000090857:ENST00000568530:exon17:c.T1986G:p.N662K Score=528;Name=lod=187 NA 16q22.1 Score=880;Name=V$OCT_C NA NA NA rs62050978 NA NA 0.22 NA NA NA NA NA NA NA NA NA NA 0.338 0.18 0.34 T 0.037 B 0.021 B 0.000 D 1.000 D 1.59 L -0.31 T -0.497 T 0.555 D 0.392 2.518 14.38 -1.15 -0.552 -1.180 11.278 2.518492 2.518492 0.07 NA NA NA 0.145 NA 12.9953334 361 11 123886984 123886984 A G exonic OR10G4 NA nonsynonymous SNV OR10G4:NM_001004462:exon1:c.A703G:p.R235G exonic ENSG00000254737 NA nonsynonymous SNV ENSG00000254737:ENST00000320891:exon1:c.A703G:p.R235G Score=378;Name=lod=46 NA 11q24.1 NA NA NA NA rs4936880 0.45 0.45 0.416 0.427316 0.4404 0.3591 0.5014 0.4682 0.3763 0.44 0.41 0.54 0.45 0.4471 0.54 0 D 0.88 P 0.843 P 0.006 N 0.908 P 2.88 M 8.63 T -1.162 T 0.000 T 0.181 2.819 15.39 3.33 1.529 2.582 11.874 2.819021 2.819021 0 0.455571 0.476147 NA 0.37 NA 12.9902624 361 2 160310246 160310246 A G exonic BAZ2B NA nonsynonymous SNV BAZ2B:NM_013450:exon4:c.T212C:p.M71T exonic ENSG00000123636 NA nonsynonymous SNV ENSG00000123636:ENST00000343439:exon4:c.T212C:p.M71T,ENSG00000123636:ENST00000355831:exon4:c.T212C:p.M71T,ENSG00000123636:ENST00000392782:exon4:c.T212C:p.M71T,ENSG00000123636:ENST00000392783:exon4:c.T212C:p.M71T,ENSG00000123636:ENST00000437839:exon4:c.T212C:p.M71T Score=755;Name=lod=1565 NA 2q24.2 Score=973;Name=V$IK2_01 NA NA NA rs10202670 0.07 0.07 0.059 0.0714856 0.1153 0.0129 0.0605 0.0287 0.1524 0.12 0.01 0.08 0.04 0.1084 0.12 0 D 0.187 B 0.059 B . . 0.523 P 1.7 L 2.79 T -1.082 T 0.002 T 0.333 3.276 17 5.46 2.066 8.256 14.500 3.276231 3.276231 0.03 0.121389 0.035266 NA 0.043 NA 12.9882444 361 10 115644040 115644040 G A exonic NHLRC2 NA nonsynonymous SNV NHLRC2:NM_198514:exon5:c.G940A:p.V314I exonic ENSG00000196865 NA nonsynonymous SNV ENSG00000196865:ENST00000369301:exon5:c.G940A:p.V314I Score=407;Name=lod=60 NA 10q25.3 NA NA NA NA rs7913176 0.24 0.24 0.206 0.223442 0.2932 0.3125 0.2291 0.121 0.1943 0.29 0.31 0.2 0.12 0.272 0.31 0.79 T 0.552 P 0.064 B 0.000 D 0.059 P 1.085 L -2.59 D -0.986 T 0.000 T 0.064 2.338 13.78 5.03 2.345 2.574 16.589 2.338147 2.338147 0.43 0.281628 0.155243 ID=COSM427091;OCCURENCE=1(breast) 0.188 NA 12.9865054 362 14 74876355 74876355 G C exonic SYNDIG1L NA nonsynonymous SNV SYNDIG1L:NM_001105579:exon2:c.C93G:p.S31R exonic ENSG00000183379 NA nonsynonymous SNV ENSG00000183379:ENST00000554823:exon1:c.C93G:p.S31R,ENSG00000183379:ENST00000331628:exon2:c.C93G:p.S31R,ENSG00000183379:ENST00000554953:exon2:c.C93G:p.S31R Score=437;Name=lod=80 NA 14q24.3 NA NA NA NA rs61734850 0.13 0.13 0.104 0.104034 0.1203 0.0813 0.1945 0.0983 0.0542 0.13 0.1 0.17 0.12 0.1179 0.17 0.01 D 0.232 B 0.147 B 0.009 N 0.732 P 0.55 N -3.69 D -0.726 T 0.007 T 0.072 1.117 9.554 3.46 2.298 1.104 9.878 1.116787 NA 0.03 0.111071 0.102372 NA 0.167 NA 12.9840624 362 11 17118687 17118687 T C exonic PIK3C2A NA nonsynonymous SNV PIK3C2A:NM_002645:exon26:c.A4243G:p.T1415A exonic ENSG00000011405 NA nonsynonymous SNV ENSG00000011405:ENST00000265970:exon26:c.A4243G:p.T1415A,ENSG00000011405:ENST00000540361:exon26:c.A3103G:p.T1035A Score=646;Name=lod=563 NA 11p15.1 NA NA NA NA rs11604561 0.08 0.08 0.074 0.0802716 0.1243 0.0109 0.1081 0.0968 0.0644 0.12 0.01 0.13 0.09 0.1002 0.13 0.24 T 0.018 B 0.012 B 0.000 D 0.000 P 2.175 M 0.37 T -0.997 T 0.003 T 0.242 2.95 15.83 4.96 2.326 4.121 11.685 2.950077 2.950077 0.05 0.125204 0.097955 NA 0.138 NA 12.9836294 362 20 6011934 6011934 C T exonic CRLS1 NA nonsynonymous SNV CRLS1:NM_001127458:exon4:c.C281T:p.P94L,CRLS1:NM_019095:exon4:c.C578T:p.P193L exonic ENSG00000088766 NA nonsynonymous SNV ENSG00000088766:ENST00000378863:exon4:c.C578T:p.P193L,ENSG00000088766:ENST00000378868:exon4:c.C281T:p.P94L Score=612;Name=lod=409 NA 20p12.3 NA NA NA NA rs41282950 0.07 0.07 0.049 0.0517173 0.1292 0.0099 0.0908 0.0038 0.0521 0.13 0.01 0.1 0.002 0.0965 0.13 0.65 T 0.952 P 0.725 P 0.000 D 0.000 P 1.06 L . . -1.126 T 0.003 T 0.18 3.795 19.27 5.74 2.716 6.175 17.415 3.795241 3.795241 0.14 0.125843 0.022923 NA 0.065 NA 12.9817904 362 4 17829990 17829990 G C exonic NCAPG NA nonsynonymous SNV NCAPG:NM_022346:exon12:c.G1743C:p.M581I exonic ENSG00000109805 NA nonsynonymous SNV ENSG00000109805:ENST00000510063:exon4:c.G438C:p.M146I,ENSG00000109805:ENST00000251496:exon12:c.G1743C:p.M581I Score=500;Name=lod=143 NA 4p15.31 Score=815;Name=V$POU3F2_01 NA NA NA rs3795243 0.1 0.1 0.086 0.141174 0.0905 0.1617 0.1167 0.0877 0.2618 0.09 0.12 0.12 0.09 0.1288 0.13 0.69 T 0.015 B 0.02 B 0.000 D 0.055 P 0.63 N 1.2 T -1.053 T 0.001 T 0.059 -0.589 1.362 5.01 2.309 3.187 7.943 -0.588596 NA 0.41 0.132326 0.088289 NA 0.138 NA 12.9817074 362 6 32548026 32548026 G C exonic HLA-DRB1 NA nonsynonymous SNV HLA-DRB1:NM_002124:exon5:c.C785G:p.T262R exonic ENSG00000196126 NA nonsynonymous SNV ENSG00000196126:ENST00000360004:exon5:c.C785G:p.T262R Score=389;Name=lod=51 NA 6p21.32 NA NA NA NA rs9269744 NA NA 0.278 NA NA NA NA NA NA NA NA NA NA 0.3575 0.098 0.07 T 1.0 D 0.997 D 0.231 N 1.000 D . . 6.11 T -0.679 T 0.004 T 0.73 2.404 14 3.06 0.736 2.243 9.689 2.40378 2.40378 0.08 NA NA NA 0.101 NA 12.9758334 363 17 1704296 1704296 C A exonic SMYD4 NA nonsynonymous SNV SMYD4:NM_052928:exon5:c.G392T:p.R131I exonic ENSG00000186532 NA nonsynonymous SNV ENSG00000186532:ENST00000305513:exon5:c.G392T:p.R131I,ENSG00000186532:ENST00000570368:exon5:c.G392T:p.R131I,ENSG00000186532:ENST00000571854:exon5:c.G392T:p.R131I Score=313;Name=lod=25 NA 17p13.3 NA NA Name=5 NA rs7224496 0.34 0.34 0.326 0.28734 0.4851 0.2688 0.2594 0.2073 0.2311 0.51 0.27 0.3 0.18 0.3875 0.51 0.21 T 0.993 D 0.961 D 0.041 N 0.000 P 2.79 M 2.19 T -0.913 T 0.000 T 0.461 2.149 13.14 3.97 0.844 3.005 9.787 2.148721 2.148721 0.07 0.48814 0.22719 NA 0.261 NA 12.9725934 363 16 81242198 81242198 G A exonic PKD1L2 NA stopgain PKD1L2:NM_001076780:exon4:c.C658T:p.Q220X exonic ENSG00000166473,ENSG00000269323 NA stopgain ENSG00000166473:ENST00000337114:exon4:c.C658T:p.Q220X,ENSG00000269323:ENST00000599697:exon4:c.C658T:p.Q220X Score=459;Name=lod=98 NA 16q23.2 NA NA NA NA rs7499011 0.2 0.2 0.182 0.161741 0.3837 0.003 0.2349 0.0923 0.1391 0.37 0.0017 0.3 0.08 0.2809 0.37 0.04 D . . . . 0.000 D 0.000 P . . . . . . . . . 5.056 30 4.31 1.957 7.373 16.402 5.056326 5.056326 0.01 0.363959 0.142008 NA 0.196 NA 12.971441 363 2 113537223 113537223 C A exonic IL1A NA nonsynonymous SNV IL1A:NM_000575:exon5:c.G340T:p.A114S exonic ENSG00000115008 NA nonsynonymous SNV ENSG00000115008:ENST00000263339:exon5:c.G340T:p.A114S NA NA 2q13 NA Name=Pol2(b) Name=6 NA rs17561 0.2 0.2 0.201 0.217452 0.2873 0.0734 0.2666 0.1672 0.3272 0.3 0.08 0.25 0.17 0.2733 0.3 0.4 T 0.982 D 0.637 P 0.171 N 1.000 P 1.75 L 2.28 T -0.912 T 0.000 T 0.064 3.462 17.73 4.44 2.761 2.817 12.884 3.461982 3.461982 0.25 0.301744 0.183386 NA 0.232 NA 12.9709894 364 17 39471778 39471778 C T exonic KRTAP17-1 NA nonsynonymous SNV KRTAP17-1:NM_031964:exon1:c.G125A:p.G42D exonic ENSG00000186860 NA nonsynonymous SNV ENSG00000186860:ENST00000334202:exon1:c.G125A:p.G42D Score=265;Name=lod=16 NA 17q21.2 Score=865;Name=V$SPZ1_01 NA NA NA rs78413710 0.18 0.18 0.055 0.187899 0.1809 0.3165 0.1354 0.1354 0.1708 0.17 0.28 0.14 0.13 0.1916 0.28 0 D 0.015 B 0.018 B . . 0.999 P 0.55 N . . -1.042 T 0.000 T 0.364 0.257 5.391 3.29 1.004 1.496 7.677 0.257268 NA NA NA NA NA 0.007 NA 12.9608334 364 1 205554085 205554085 G C exonic MFSD4 NA nonsynonymous SNV MFSD4:NM_181644:exon5:c.G941C:p.G314A exonic ENSG00000174514 NA nonsynonymous SNV ENSG00000174514:ENST00000536357:exon4:c.G680C:p.G227A,ENSG00000174514:ENST00000367147:exon5:c.G941C:p.G314A,ENSG00000174514:ENST00000539267:exon5:c.G941C:p.G314A Score=251;Name=lod=14 NA 1q32.1 Score=816;Name=V$GFI1_01 Name=CTCF,CTCF_(SC-5916) Name=7 NA rs7526132 0.42 0.42 0.394 0.425919 0.4503 0.0813 0.4942 0.708 0.3262 0.47 0.09 0.49 0.66 0.4449 0.66 0.52 T 0.042 B 0.035 B 0.000 N 0.997 P 0.785 N -1.35 T -0.945 T 0.000 T 0.064 -0.242 2.834 4.8 1.594 4.195 15.565 -0.241878 NA 1 0.479535 0.652746 NA 0.464 NA 12.9585984 365 6 31239501 31239501 G T exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon2:c.C218A:p.A73E,HLA-C:NM_002117:exon2:c.C218A:p.A73E exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon2:c.C218A:p.A73E,ENSG00000204525:ENST00000376237:exon2:c.C218A:p.A73E,ENSG00000204525:ENST00000383329:exon2:c.C218A:p.A73E Score=340;Name=lod=32 NA 6p21.33 Score=980;Name=V$AP2GAMMA_01 Name=CTCF,NFKB,Pol2-4H8,RFX5_(N-494),Pol2 Name=31 NA rs1050409 0.14 0.14 0.11 0.141973 0.1382 0.0367 0.1873 0.2436 0.0849 0.13 0.05 0.19 0.22 0.1286 0.22 0.02 D 0.054 B 0.1 B 0.749 U 0.976 P 4.815 H 5.56 T -1.058 T 0.006 T 0.537 1.739 11.77 1.93 0.751 0.281 5.723 1.738587 1.738587 0.02 0.112629 0.18994 ID=COSM451201,COSM451202;OCCURENCE=1(breast) 0.007 NA 12.9539044 365 1 41485902 41485902 C G exonic SLFNL1 NA nonsynonymous SNV SLFNL1:NM_144990:exon2:c.G431C:p.R144T,SLFNL1:NM_001168247:exon3:c.G431C:p.R144T exonic ENSG00000171790 NA nonsynonymous SNV ENSG00000171790:ENST00000359345:exon1:c.G431C:p.R144T,ENSG00000171790:ENST00000372613:exon1:c.G431C:p.R144T,ENSG00000171790:ENST00000302946:exon2:c.G431C:p.R144T,ENSG00000171790:ENST00000372611:exon3:c.G431C:p.R144T,ENSG00000171790:ENST00000397197:exon3:c.G431C:p.R144T,ENSG00000171790:ENST00000439569:exon3:c.G431C:p.R144T Score=272;Name=lod=17 NA 1p34.2 Score=851;Name=V$GATA1_03 Name=Pol2-4H8 NA NA rs3738368 0.2 0.2 0.159 0.182109 0.3042 0.1687 0.2896 0.0166 0.2178 0.29 0.18 0.3 0.02 0.275 0.31 0.01 D 0.972 D 0.592 P 0.045 N 0.906 P 1.845 L 0.24 T -1.062 T 0.000 T 0.19 1.197 9.864 3.77 0.746 0.322 8.589 1.197201 NA 0 0.307558 0.074671 NA 0.268 NA 12.9465754 365 19 8160897 8160897 G C exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon44:c.C5607G:p.N1869K exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon44:c.C5607G:p.N1869K,ENSG00000142449:ENST00000600128:exon45:c.C5607G:p.N1869K,ENSG00000142449:ENST00000601739:exon45:c.C5607G:p.N1869K Score=537;Name=lod=203 NA 19p13.2 NA Name=KAP1 NA NA rs12150963 0.15 0.15 0.131 0.132188 0.1153 0.245 0.2594 0.0159 0.1002 0.12 0.26 0.23 0.02 0.1401 0.26 0.31 T 0.334 B 0.138 B 0.000 U 0.000 P 0.245 N -2.88 D -1.091 T 0.000 T 0.053 1.885 12.26 3.71 1.748 6.946 15.833 1.885399 1.885399 0.18 0.132674 0.036087 NA 0.058 NA 12.9452594 366 5 141309824 141309824 G A exonic KIAA0141 NA nonsynonymous SNV KIAA0141:NM_001142603:exon7:c.G739A:p.A247T,KIAA0141:NM_014773:exon7:c.G739A:p.A247T exonic ENSG00000081791 NA nonsynonymous SNV ENSG00000081791:ENST00000194118:exon7:c.G739A:p.A247T,ENSG00000081791:ENST00000432126:exon7:c.G739A:p.A247T,ENSG00000081791:ENST00000508751:exon7:c.G739A:p.A247T Score=512;Name=lod=161 NA 5q31.3 Score=820;Name=V$IRF7_01 NA NA NA rs351260 0.19 0.19 0.16 0.163139 0.3062 0.1329 0.2161 0.0234 0.1984 0.3 0.13 0.25 0.04 0.2619 0.34 0.13 T 0.742 P 0.227 B 0.001 N 0.979 P 3.26 M 0.53 T -1.067 T 0.000 T 0.292 2.258 13.51 3.97 1.243 2.644 9.366 2.258234 2.258234 0.37 0.337209 0.072628 NA 0.174 NA 12.9280244 367 1 64095111 64095111 A G exonic PGM1 NA nonsynonymous SNV PGM1:NM_001172818:exon2:c.A316G:p.I106V,PGM1:NM_002633:exon2:c.A262G:p.I88V exonic ENSG00000079739 NA nonsynonymous SNV ENSG00000079739:ENST00000371083:exon2:c.A316G:p.I106V,ENSG00000079739:ENST00000371084:exon2:c.A262G:p.I88V Score=407;Name=lod=60 NA 1p31.3 Score=821;Name=V$CDP_01 NA NA NA rs855314 0.13 0.13 0.127 0.129792 0.1431 0.0109 0.1138 0.2519 0.0849 0.14 0.01 0.11 0.25 0.1304 0.25 1 T 0.107 B 0.059 B 0.000 D 0.000 P -0.53 N 0.02 T -1.049 T 0.042 T 0.251 1.673 11.55 5.48 2.210 9.210 15.892 1.672935 1.672935 1 0.14093 0.2399 NA 0.13 NA 12.9189034 367 8 87567193 87567193 C T exonic CPNE3 NA nonsynonymous SNV CPNE3:NM_003909:exon15:c.C1235T:p.T412M exonic ENSG00000085719 NA nonsynonymous SNV ENSG00000085719:ENST00000198765:exon14:c.C1235T:p.T412M,ENSG00000085719:ENST00000521271:exon15:c.C1235T:p.T412M Score=559;Name=lod=249 NA 8q21.3 Score=765;Name=V$PAX5_02 NA NA NA rs2304789 0.22 0.22 0.207 0.212859 0.332 0.0139 0.17 0.2829 0.2311 0.32 0.02 0.19 0.32 0.2666 0.32 0.14 T 0.471 P 0.149 B 0.000 D 0.000 P 1.16 L 1.91 T -0.930 T 0.000 T 0.392 2.55 14.49 5.66 2.814 3.088 20.111 2.550189 2.550189 0.12 0.318605 0.313209 NA 0.268 NA 12.9161284 368 1 11854476 11854476 T G exonic MTHFR NA nonsynonymous SNV MTHFR:NM_005957:exon8:c.A1286C:p.E429A exonic ENSG00000177000 NA nonsynonymous SNV ENSG00000177000:ENST00000376592:exon7:c.A1286C:p.E429A,ENSG00000177000:ENST00000376583:exon8:c.A1409C:p.E470A,ENSG00000177000:ENST00000376590:exon8:c.A1286C:p.E429A,ENSG00000177000:ENST00000376585:exon9:c.A1409C:p.E470A Score=575;Name=lod=289 NA 1p36.22 NA NA NA NA rs1801131 0.23 0.23 0.224 0.249401 0.3131 0.2192 0.1513 0.1513 0.4172 0.32 0.19 0.18 0.17 0.295 0.32 0.18 T 0.462 P 0.065 B 0.000 D 0.000 P 1.375 L -0.78 T -1.076 T 0.000 T 0.397 2.791 15.29 4.74 1.898 3.792 13.742 2.790872 2.790872 0.12 0.31314 0.155016 NA 0.203 CLINSIG=non-pathogenic|other;CLNDBN=MTHFR_deficiency\x2c_thermolabile_type|Schizophrenia\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000003698.1|RCV000003699.1;CLNDSDB=MedGen|.;CLNDSDBID=C1856059|. 12.9120934 368 3 170732300 170732300 G A exonic SLC2A2 NA nonsynonymous SNV SLC2A2:NM_000340:exon3:c.C329T:p.T110I exonic ENSG00000163581 NA nonsynonymous SNV ENSG00000163581:ENST00000314251:exon3:c.C329T:p.T110I,ENSG00000163581:ENST00000497642:exon3:c.C329T:p.T110I Score=595;Name=lod=350 NA 3q26.2 NA Name=CEBPB NA NA rs5400 0.19 0.19 0.204 0.215256 0.1352 0.0159 0.1715 0.4894 0.1636 0.14 0.02 0.19 0.46 0.154 0.46 1 T 0.0 B 0.0 B 0.013 N 0.000 P -2.86 N -0.48 T -0.948 T 0.000 T 0.029 0.881 8.575 6.08 1.126 7.036 12.113 0.880856 NA 1 0.133372 0.447118 NA 0.341 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118387.2;CLNDSDB=.;CLNDSDBID=. 12.9107614 368 1 247695427 247695427 C G exonic OR2C3 NA nonsynonymous SNV OR2C3:NM_198074:exon2:c.G387C:p.R129S exonic ENSG00000196242 NA nonsynonymous SNV ENSG00000196242:ENST00000366487:exon2:c.G387C:p.R129S Score=500;Name=lod=144 NA 1q44 NA Name=CTCF,CTCF_(SC-5916) Name=3 NA rs34220133 0.07 0.07 0.063 0.0690895 0.1372 0.002 0.0504 0.0333 0.1299 0.14 0.0035 0.07 0.02 0.1225 0.16 0 D 0.421 B 0.086 B 0.213 U 0.000 P 1.445 L 5.03 T -0.912 T 0.000 T 0.178 3.347 17.27 2.0 0.418 -2.208 7.899 3.347422 3.347422 0 0.16407 0.049705 NA 0.123 NA 12.9095634 369 17 29161503 29161503 A G exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon2:c.A404G:p.E135G exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon2:c.A404G:p.E135G,ENSG00000176208:ENST00000578295:exon2:c.A404G:p.E135G Score=336;Name=lod=31 NA 17q11.2 Score=789;Name=V$CART1_01 NA NA NA rs11080134 0.17 0.17 0.14 0.151558 0.327 0.001 0.2594 0.0673 0.1636 0.33 0.0017 0.28 0.06 0.2609 0.34 0.18 T 0.977 D 0.647 P 0.007 N 0.201 P 1.735 L 2.21 T -1.033 T 0.000 T 0.232 0.479 6.597 4.24 1.067 1.536 6.678 0.47855 NA 0 0.341131 0.109396 NA 0.246 NA 12.9043024 369 19 46998236 46998236 C T exonic PNMAL2 NA nonsynonymous SNV PNMAL2:NM_020709:exon1:c.G487A:p.G163S exonic ENSG00000204850,ENSG00000204851 NA nonsynonymous SNV ENSG00000204850:ENST00000377652:exon1:c.C347T:p.P116L,ENSG00000204851:ENST00000377655:exon1:c.G487A:p.G163S,ENSG00000204851:ENST00000599531:exon1:c.G487A:p.G163S NA NA 19q13.32 Score=766;Name=V$YY1_02 NA NA NA rs4803967 0.11 0.11 0.096 0.0824681 0.1551 0.0069 0.1311 0.0976 0.0307 0.16 0.01 0.16 0.1 0.1166 0.16 0.43 T 0.996 D 0.923 D . . 1.000 P 0.55 N 1.33 T -1.068 T 0.001 T 0.116 3.645 18.53 2.93 1.922 1.437 9.557 3.644613 3.644613 0 0.158256 0.124376 NA 0.116 NA 12.9033774 369 11 20648364 20648364 G C exonic SLC6A5 NA nonsynonymous SNV SLC6A5:NM_004211:exon8:c.G1371C:p.K457N exonic ENSG00000165970 NA nonsynonymous SNV ENSG00000165970:ENST00000525748:exon8:c.G1371C:p.K457N Score=476;Name=lod=115 NA 11p15.1 Score=765;Name=V$BRACH_01 NA NA NA rs3740870 0.09 0.09 0.076 0.0904553 0.1392 0.0744 0.0922 0.0091 0.1656 0.14 0.08 0.1 0.02 0.1339 0.16 0.71 T 0.043 B 0.03 B 0.000 D 0.000 P 0.49 N -0.74 T -1.089 T 0.001 T 0.235 1.659 11.51 5.12 2.873 1.250 10.623 1.659351 1.659351 0.09 0.16093 0.030413 ID=COSM1353176;OCCURENCE=1(large_intestine) 0.138 NA 12.8993034 369 16 77323235 77323235 C G exonic ADAMTS18 NA nonsynonymous SNV ADAMTS18:NM_199355:exon22:c.G3476C:p.S1159T exonic ENSG00000140873 NA nonsynonymous SNV ENSG00000140873:ENST00000282849:exon22:c.G3476C:p.S1159T NA NA 16q23.1 NA Name=GR Name=110 NA rs3743749 0.17 0.17 0.166 0.181909 0.1451 0.2212 0.1254 0.2103 0.181 0.13 0.18 0.15 0.22 0.1499 0.22 0.3 T 0.116 B 0.115 B 0.000 D 0.999 P 1.275 L 0.12 T -1.078 T 0.000 T 0.098 3.928 19.99 4.82 1.443 3.104 13.782 3.928362 3.928362 0.18 0.141512 0.209964 NA 0.152 NA 12.8968214 369 15 36946303 36946303 C G exonic C15orf41 NA nonsynonymous SNV C15orf41:NM_001130010:exon4:c.C217G:p.L73V exonic ENSG00000186073 NA nonsynonymous SNV ENSG00000186073:ENST00000564586:exon2:c.C106G:p.L36V,ENSG00000186073:ENST00000437989:exon4:c.C217G:p.L73V,ENSG00000186073:ENST00000566621:exon4:c.C217G:p.L73V,ENSG00000186073:ENST00000569302:exon4:c.C217G:p.L73V Score=626;Name=lod=466 NA 15q14 Score=896;Name=V$AREB6_01 NA Name=8 NA rs3784678 0.49 0.49 0.49 0.497005 0.4423 0.6815 0.3818 0.3782 0.6053 0.47 0.66 0.38 0.42 0.5352 0.66 0.16 T 0.879 P 0.503 P . . 0.000 P 1.465 L 0.85 T -0.913 T 0.000 T 0.33 2.814 15.37 5.5 2.854 3.645 12.854 2.813509 2.813509 0.1 0.459195 0.395594 NA 0.572 NA 12.8966384 370 1 186316488 186316488 C T exonic TPR NA nonsynonymous SNV TPR:NM_003292:exon22:c.G2879A:p.S960N exonic ENSG00000047410 NA nonsynonymous SNV ENSG00000047410:ENST00000367478:exon22:c.G2879A:p.S960N Score=561;Name=lod=253 NA 1q31.1 NA NA NA NA rs3753565 0.1 0.1 0.106 0.0980431 0.1501 0.13 0.0634 0.0242 0.136 0.15 0.11 0.07 0.03 0.1341 0.16 0.08 T 0.956 P 0.63 P 0.000 D 0.035 P 1.7 L 1.84 T -1.188 T 0.001 T 0.111 4.675 25.8 5.25 2.445 3.539 18.845 4.6754 4.6754 0.07 0.156129 0.043837 NA 0.094 NA 12.8930044 370 18 56203074 56203074 G A exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.C4345T:p.P1449S exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.C4345T:p.P1449S NA NA 18q21.32 NA Name=EBF1_(C-8),Oct-2,ELF1_(SC-631),BCL11A,YY1_(C-20),Pol2,POU2F2,TAF1,PAX5-C20,Pol2-4H8,Pbx3,YY1 Name=5 NA rs3809982 0.38 0.38 0.363 0.329273 0.5308 0.2381 0.3847 0.2088 0.3395 0.54 0.24 0.45 0.23 0.4259 0.54 0.14 T 0.999 D 0.96 D 0.002 N 1.000 P 1.65 L 0.72 T -0.984 T 0.000 T 0.193 2.866 15.55 3.37 1.415 1.301 10.886 2.865878 2.865878 0 0.484997 0.25931 NA 0.457 NA 12.8916364 371 3 16327909 16327909 C T exonic OXNAD1 NA nonsynonymous SNV OXNAD1:NM_138381:exon5:c.C244T:p.R82C exonic ENSG00000154814 NA nonsynonymous SNV ENSG00000154814:ENST00000544043:exon4:c.C298T:p.R100C,ENSG00000154814:ENST00000285083:exon5:c.C244T:p.R82C,ENSG00000154814:ENST00000435829:exon5:c.C298T:p.R100C,ENSG00000154814:ENST00000605932:exon5:c.C244T:p.R82C,ENSG00000154814:ENST00000606098:exon5:c.C244T:p.R82C Score=366;Name=lod=41 NA 3p25.1 NA Name=BATF,Pol2-4H8 Name=10 NA rs6777976 0.18 0.18 0.198 0.177316 0.162 0.1696 0.1081 0.2663 0.1299 0.16 0.19 0.11 0.27 0.1449 0.27 0.17 T 0.02 B 0.011 B 0.000 N 0.000 P 2.64 M 2.39 T -1.044 T 0.000 T 0.41 2.186 13.27 4.38 1.204 0.332 13.880 2.185915 2.185915 0.07 0.14186 0.232183 NA 0.196 NA 12.8845734 371 2 133540605 133540605 G T exonic NCKAP5 NA nonsynonymous SNV NCKAP5:NM_207363:exon14:c.C3779A:p.P1260Q exonic ENSG00000176771 NA nonsynonymous SNV ENSG00000176771:ENST00000317721:exon12:c.C3779A:p.P1260Q,ENSG00000176771:ENST00000409261:exon14:c.C3779A:p.P1260Q Score=415;Name=lod=65 NA 2q21.2 NA NA NA NA rs13016342 0.12 0.12 0.123 0.121006 0.1441 0.0655 0.1225 0.1702 0.0869 0.13 0.06 0.15 0.16 0.1393 0.17 0.21 T 0.996 D 0.931 D 0.042 U 0.000 P 0.975 L 2.4 T -1.056 T 0.000 T 0.074 3.458 17.72 4.61 1.500 6.500 14.048 3.458367 3.458367 0.06 0.165428 0.174273 NA 0.196 NA 12.8845054 371 10 61552692 61552692 G T exonic CCDC6 NA nonsynonymous SNV CCDC6:NM_005436:exon9:c.C1408A:p.P470T exonic ENSG00000108091 NA nonsynonymous SNV ENSG00000108091:ENST00000263102:exon9:c.C1408A:p.P470T Score=574;Name=lod=287 NA 10q21.2 NA NA NA NA rs1053266 0.46 0.46 0.402 0.435304 0.4503 0.6121 0.598 0.1989 0.4417 0.47 0.57 0.58 0.22 0.502 0.58 0.02 D 0.998 D 0.987 D 0.030 N 0.000 P 1.39 L 0.54 T -0.870 T 0.000 T 0.262 3.312 17.13 5.6 2.786 8.852 19.985 3.311702 3.311702 0 0.503372 0.264185 ID=COSM146940;OCCURENCE=1(stomach) 0.42 NA 12.8776614 371 12 117383320 117383320 G A exonic FBXW8 NA nonsynonymous SNV FBXW8:NM_012174:exon3:c.G377A:p.R126Q,FBXW8:NM_153348:exon3:c.G575A:p.R192Q exonic ENSG00000174989 NA nonsynonymous SNV ENSG00000174989:ENST00000309909:exon3:c.G575A:p.R192Q,ENSG00000174989:ENST00000455858:exon3:c.G377A:p.R126Q Score=503;Name=lod=148 NA 12q24.22 NA NA NA NA rs4076700 0.68 0.68 0.642 0.641773 0.8201 0.7302 0.8429 0.2315 0.7791 0.83 0.75 0.83 0.27 0.7886 0.85 0.17 T 1.0 D 0.977 D 0.000 D 0.005 P 1.935 M 1.82 T -1.116 T 0.000 T 0.58 4.031 20.7 5.19 1.585 4.602 13.006 4.031213 4.031213 0.14 0.847558 0.313436 NA 0.638 NA 12.8770754 372 15 90170237 90170237 C T exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon22:c.C5653T:p.R1885C exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon22:c.C5653T:p.R1885C,ENSG00000140534:ENST00000560985:exon22:c.C5650T:p.R1884C Score=363;Name=lod=40 NA 15q26.1 NA NA NA NA rs3743372 0.26 0.26 0.267 0.267372 0.33 0.3958 0.2839 0.0514 0.3507 0.34 0.35 0.25 0.06 0.302 0.35 0.03 D 0.998 D 0.804 P 0.391 N 0.000 P 1.87 L 3.02 T -0.904 T 0.000 T 0.343 2.882 15.6 3.49 1.328 0.993 8.464 2.881889 2.881889 0.05 0.334147 0.086364 NA 0.254 NA 12.8671864 372 8 2046700 2046700 C T exonic MYOM2 NA nonsynonymous SNV MYOM2:NM_003970:exon19:c.C2327T:p.T776M exonic ENSG00000036448 NA nonsynonymous SNV ENSG00000036448:ENST00000523438:exon6:c.C602T:p.T201M,ENSG00000036448:ENST00000262113:exon19:c.C2327T:p.T776M Score=321;Name=lod=27 NA 8p23.3 NA NA NA NA rs2294066 0.19 0.19 0.169 0.165935 0.166 0.2629 0.1945 0.1195 0.1084 0.16 0.27 0.23 0.1 0.1563 0.27 0.04 D 0.999 D 0.967 D 0.002 N 0.666 P 2.32 M 0.32 T -1.115 T 0.000 T 0.275 1.457 10.81 3.72 0.700 0.029 11.114 1.456847 1.456847 0.07 0.144186 0.125965 NA 0.174 NA 12.8668474 373 19 44156472 44156472 T C exonic PLAUR NA nonsynonymous SNV PLAUR:NM_001005377:exon5:c.A524G:p.K175R,PLAUR:NM_001005376:exon6:c.A659G:p.K220R,PLAUR:NM_002659:exon6:c.A659G:p.K220R exonic ENSG00000011422 NA nonsynonymous SNV ENSG00000011422:ENST00000221264:exon5:c.A524G:p.K175R,ENSG00000011422:ENST00000339082:exon6:c.A659G:p.K220R,ENSG00000011422:ENST00000340093:exon6:c.A659G:p.K220R,ENSG00000011422:ENST00000599892:exon6:c.A584G:p.K195R Score=426;Name=lod=72 NA 19q13.31 NA Name=eGFP-JunD,HEY1,YY1 Name=142 NA rs2302524 0.17 0.17 0.142 0.165136 0.1412 0.0833 0.2666 0.208 0.1442 0.14 0.08 0.24 0.25 0.1629 0.25 0.06 T 0.158 B 0.062 B 0.851 N 0.585 P 0.55 N -0.43 T -1.104 T 0.000 T 0.104 2.931 15.77 4.49 2.014 3.565 10.344 2.930532 2.930532 0.03 0.166512 0.197458 ID=COSM148659;OCCURENCE=1(stomach) 0.21 NA 12.8627214 373 17 42987523 42987523 G A exonic GFAP NA nonsynonymous SNV GFAP:NM_001131019:exon8:c.C1277T:p.T426M exonic ENSG00000131095 NA nonsynonymous SNV ENSG00000131095:ENST00000586125:exon2:c.C128T:p.T43M,ENSG00000131095:ENST00000435360:exon8:c.C1277T:p.T426M Score=374;Name=lod=44 NA 17q21.31 NA NA NA NA rs9908084 0.08 0.08 0.115 0.105631 0.167 0.005 0.1081 0.1021 0.1493 0.13 0.0035 0.13 0.07 0.1375 0.17 0.01 D 0.007 B 0.001 B . . 0.000 P 0 N -1.89 D -0.989 T 0.001 T 0.064 2.267 13.54 3.8 1.599 1.941 9.513 2.267411 2.267411 0 0.166946 0.095344 NA NA NA 12.8618874 373 18 34324091 34324091 G A exonic FHOD3 NA nonsynonymous SNV FHOD3:NM_025135:exon20:c.G3451A:p.V1151I exonic ENSG00000134775 NA nonsynonymous SNV ENSG00000134775:ENST00000592128:exon5:c.G388A:p.V130I,ENSG00000134775:ENST00000591635:exon12:c.G1039A:p.V347I,ENSG00000134775:ENST00000359247:exon19:c.G3400A:p.V1134I,ENSG00000134775:ENST00000445677:exon19:c.G3337A:p.V1113I,ENSG00000134775:ENST00000257209:exon20:c.G3451A:p.V1151I,ENSG00000134775:ENST00000590592:exon23:c.G3976A:p.V1326I Score=579;Name=lod=302 NA 18q12.2 NA NA NA NA rs2303510 0.33 0.33 0.335 0.376198 0.3042 0.3204 0.389 0.41 0.453 0.29 0.33 0.36 0.38 0.3415 0.46 0.18 T 0.976 D 0.622 P 0.000 D 0.000 P 0.73 N 2.36 T -0.803 T 0.000 T 0.107 4.066 20.9 5.29 2.451 7.884 17.505 4.06619 4.06619 0.18 0.326279 0.412392 NA 0.391 NA 12.8613544 374 6 166579270 166579270 C T exonic T NA nonsynonymous SNV T:NM_001270484:exon4:c.G530A:p.G177D,T:NM_003181:exon4:c.G530A:p.G177D exonic ENSG00000164458 NA nonsynonymous SNV ENSG00000164458:ENST00000366876:exon3:c.G530A:p.G177D,ENSG00000164458:ENST00000296946:exon4:c.G530A:p.G177D,ENSG00000164458:ENST00000366871:exon4:c.G530A:p.G177D,ENSG00000164458:ENST00000461348:exon4:c.G530A:p.G177D Score=278;Name=lod=18 NA 6q27 Score=839;Name=V$PAX4_01 NA Name=3 NA rs2305089 0.39 0.39 0.352 0.391773 0.495 0.3423 0.5288 0.2042 0.4928 0.47 0.32 0.53 0.24 0.4745 0.53 0.8 T 0.168 B 0.201 B 0.000 D 0.000 P 1.145 L -1.31 T -0.824 T 0.210 T 0.342 1.171 9.764 4.06 1.059 5.496 14.432 1.170949 NA 0.02 0.512442 0.264185 NA 0.486 NA 12.8513914 374 5 129040056 129040056 A T exonic ADAMTS19 NA nonsynonymous SNV ADAMTS19:NM_133638:exon21:c.A3266T:p.Y1089F exonic ENSG00000145808 NA nonsynonymous SNV ENSG00000145808:ENST00000274487:exon21:c.A3266T:p.Y1089F Score=528;Name=lod=186 NA 5q23.3 Score=835;Name=V$PAX3_01 NA NA NA rs11749126 0.08 0.08 0.087 0.0708866 0.163 0.002 0.1009 0.0083 0.1104 0.16 NA 0.12 0.02 0.1357 0.18 . . 0.058 B 0.022 B 0.000 D 0.000 P 0.985 L 0.19 T -1.088 T 0.000 T 0.289 2.357 13.84 4.29 2.166 4.259 14.489 2.356939 2.356939 0.29 0.18407 0.039946 NA 0.029 NA 12.8505634 374 1 186273994 186273994 C T exonic PRG4 NA nonsynonymous SNV PRG4:NM_001127708:exon5:c.C415T:p.R139W,PRG4:NM_005807:exon6:c.C538T:p.R180W exonic ENSG00000116690 NA nonsynonymous SNV ENSG00000116690:ENST00000533951:exon4:c.C265T:p.R89W,ENSG00000116690:ENST00000367483:exon5:c.C415T:p.R139W,ENSG00000116690:ENST00000367484:exon5:c.C415T:p.R139W,ENSG00000116690:ENST00000445192:exon6:c.C538T:p.R180W Score=646;Name=lod=561 NA 1q31.1 NA NA NA NA rs2273779 0.25 0.25 0.223 0.231629 0.33 0.129 0.4063 0.149 0.2239 0.35 0.13 0.4 0.13 0.305 0.4 0.03 D 0.97 D 0.529 P 0.033 U 0.000 P 0.55 N 2.96 T -0.947 T 0.000 T 0.382 3.678 18.69 4.26 1.188 1.402 9.740 3.677565 3.677565 0 0.352524 0.186903 NA 0.21 NA 12.8458094 375 11 193865 193865 T G exonic LOC653486,SCGB1C1 NA nonsynonymous SNV LOC653486:NM_001097610:exon2:c.T209G:p.I70R,SCGB1C1:NM_145651:exon2:c.T209G:p.I70R exonic ENSG00000188076 NA nonsynonymous SNV ENSG00000188076:ENST00000342878:exon2:c.T209G:p.I70R Score=399;Name=lod=56 NA 11p15.5 NA NA NA NA rs2686894 0.5 0.5 NA 0.493011 0.4901 0.4812 0.4942 0.4992 0.499 0.5 0.5 0.49 0.5 0.5 0.5 0.03 D 0.96 D 0.776 P 0.002 N 1.000 D . . 2.48 T -0.833 T 0.000 T 0.703 2.385 13.94 3.96 0.885 2.284 8.159 2.3855 2.3855 0.11 NA NA NA NA NA 12.8432334 375 7 44444122 44444122 G A exonic NUDCD3 NA nonsynonymous SNV NUDCD3:NM_015332:exon4:c.C703T:p.R235C exonic ENSG00000015676 NA nonsynonymous SNV ENSG00000015676:ENST00000355451:exon4:c.C703T:p.R235C Score=358;Name=lod=38 NA 7p13 NA NA NA NA rs11550029 0.08 0.08 0.059 0.0716853 0.165 0.005 0.0807 0.0174 0.1115 0.16 0.01 0.1 0.01 0.1418 0.19 0.05 D 0.041 B 0.125 B 0.001 D 0.000 P 1.32 L 2.5 T -1.009 T 0.000 T 0.247 3.493 17.86 5.39 2.519 5.089 18.752 3.492703 3.492703 0.05 0.186279 0.044939 ID=COSM453111;OCCURENCE=1(breast) 0.051 NA 12.8402544 376 17 21203893 21203893 T C exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon4:c.T115C:p.S39P,MAP2K3:NM_145109:exon4:c.T202C:p.S68P exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000342679:exon4:c.T202C:p.S68P,ENSG00000034152:ENST00000361818:exon4:c.T115C:p.S39P,ENSG00000034152:ENST00000496046:exon4:c.T202C:p.S68P,ENSG00000034152:ENST00000526076:exon4:c.T115C:p.S39P,ENSG00000034152:ENST00000316920:exon5:c.T115C:p.S39P NA NA 17p11.2 Score=864;Name=V$YY1_01 NA NA NA rs34105301 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4995 0.5 0.05 D 0.266 B 0.056 B 0.001 N 1.000 N 2.555 M 1.02 T -1.097 T 0.000 T 0.715 1.507 10.99 5.47 2.087 1.894 11.148 1.50703 1.50703 0.09 NA NA NA 0.42 NA 12.8338334 376 11 48346962 48346962 A G exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.A470G:p.N157S exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.A470G:p.N157S Score=557;Name=lod=244 NA 11p11.2 Score=861;Name=V$MRF2_01 NA NA NA rs74589050 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 NA 0 D 0.0 B 0.0 B 0.006 N 0.849 N 0.345 N 2.15 T -1.067 T 0.036 T 0.194 2.055 12.83 5.78 2.245 9.088 14.203 2.055245 2.055245 0 NA NA NA NA NA 12.8334334 376 11 48346791 48346791 C T exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.C299T:p.S100F exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.C299T:p.S100F NA NA 11p11.2 NA NA NA NA rs73463994 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0 D 0.007 B 0.044 B 0.000 D 0.994 N 2.325 M 4.02 T -1.000 T 0.000 T 0.762 1.821 12.05 5.88 2.829 2.146 17.887 1.820639 1.820639 0 NA NA NA 0.239 NA 12.8333334 376 11 57947223 57947223 C A exonic OR9Q1 NA nonsynonymous SNV OR9Q1:NM_001005212:exon3:c.C307A:p.L103M exonic ENSG00000186509 NA nonsynonymous SNV ENSG00000186509:ENST00000335397:exon3:c.C307A:p.L103M Score=378;Name=lod=46 NA 11q12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 0.552 P 0.12 B 0.218 N 0.840 N 1.815 L 7.54 T -0.971 T 0.001 T 0.214 2.148 13.14 2.91 1.436 0.205 1.371 2.147802 2.147802 0.04 NA NA NA NA NA 12.8333334 376 17 21202237 21202237 G C exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon3:c.G77C:p.R26T,MAP2K3:NM_145109:exon3:c.G164C:p.R55T exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000342679:exon3:c.G164C:p.R55T,ENSG00000034152:ENST00000361818:exon3:c.G77C:p.R26T,ENSG00000034152:ENST00000496046:exon3:c.G164C:p.R55T,ENSG00000034152:ENST00000526076:exon3:c.G77C:p.R26T,ENSG00000034152:ENST00000316920:exon4:c.G77C:p.R26T Score=573;Name=lod=283 NA 17p11.2 NA NA NA NA rs36047035 0.5 0.5 0.44 0.000199681 0.001 NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.1 T 0.087 B 0.03 B 0.000 D 0.970 D 0.625 N 1.08 T -0.968 T 0.000 T 0.387 2.755 15.17 3.5 1.261 4.728 4.543 2.754779 2.754779 0.03 NA NA NA 0.478 NA 12.8323334 376 22 50898827 50898827 G A exonic SBF1 NA nonsynonymous SNV SBF1:NM_002972:exon25:c.C3157T:p.R1053W exonic ENSG00000100241 NA nonsynonymous SNV ENSG00000100241:ENST00000348911:exon25:c.C3160T:p.R1054W,ENSG00000100241:ENST00000380817:exon25:c.C3157T:p.R1053W,ENSG00000100241:ENST00000390679:exon25:c.C3157T:p.R1053W Score=591;Name=lod=336 NA 22q13.33 NA NA NA NA rs202156491 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0009 0 D 0.998 D 0.9 P 0.004 N 0.961 D 0.895 L 2.85 T -1.134 T 0.041 T 0.521 3.261 16.94 1.58 0.251 2.910 11.43 3.261272 3.261272 0 0.000936 0 NA NA NA 12.8316974 376 10 47000079 47000079 T C exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.T1199C:p.L400P exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.T1199C:p.L400P,ENSG00000204175:ENST00000374317:exon3:c.T1199C:p.L400P Score=387;Name=lod=50 NA 10q11.22 NA Name=CTCF NA NA rs3127823 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5017 0.5 1 T 0.0 B 0.0 B 0.001 N 0.992 D -2.295 N 2.17 T -0.855 T 0.000 T 0.21 -0.61 1.282 4.65 1.108 2.609 11.112 -0.610062 NA 1 NA NA NA 0.5 NA 12.8316334 376 1 235324219 235324219 G A exonic RBM34 NA nonsynonymous SNV RBM34:NM_001161533:exon2:c.C217T:p.P73S,RBM34:NM_015014:exon2:c.C217T:p.P73S exonic ENSG00000188739 NA nonsynonymous SNV ENSG00000188739:ENST00000366606:exon2:c.C202T:p.P68S,ENSG00000188739:ENST00000408888:exon2:c.C217T:p.P73S,ENSG00000188739:ENST00000429912:exon2:c.C217T:p.P73S,ENSG00000188739:ENST00000447801:exon2:c.C211T:p.P71S NA NA 1q42.3 NA Name=CHD2_(N-1250),Pol2,Sin3Ak-20 Name=115 NA rs181926176 0.0009 0.0009 NA 0.00179712 0.001 NA 0.0086 0.0015 NA NA NA 0.01 NA 0.0004 0.01 0.38 T 0.64 P 0.146 B 0.001 N 0.988 D 2.255 M 2.08 T -1.084 T 0.030 T 0.148 3.302 17.1 0.896 0.273 1.087 6.016 3.301935 3.301935 0.02 0.000364 0.000779 NA NA NA 12.8315694 376 10 1230968 1230968 C T exonic ADARB2 NA nonsynonymous SNV ADARB2:NM_018702:exon9:c.G1876A:p.A626T exonic ENSG00000185736 NA nonsynonymous SNV ENSG00000185736:ENST00000381310:exon2:c.G403A:p.A135T,ENSG00000185736:ENST00000381305:exon3:c.G82A:p.A28T,ENSG00000185736:ENST00000381312:exon9:c.G1876A:p.A626T Score=278;Name=lod=18 NA 10p15.3 Score=893;Name=V$BACH2_01 NA NA NA rs2271275 0.56 0.56 0.544 0.543131 0.6809 0.6696 0.5115 0.2504 0.6892 0.68 0.65 0.56 0.24 0.6403 0.68 0.22 T 0.623 P 0.376 B 0.000 D 0.000 P 1.68 L -3.3 D -0.926 T 0.000 T 0.383 2.281 13.59 4.81 2.220 1.502 17.899 2.28143 2.28143 0.05 0.68241 0.322742 ID=COSM1560925;OCCURENCE=1(large_intestine) 0.449 NA 12.8297234 376 22 46932032 46932032 T A exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon1:c.A1036T:p.T346S exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon1:c.A1036T:p.T346S,ENSG00000075275:ENST00000395964:exon1:c.A1036T:p.T346S Score=498;Name=lod=141 NA 22q13.31 NA NA NA NA rs142090496 0.0014 0.0014 0.001 0.000798722 0.002 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA 0.0011 0.0028 0.06 T 0.972 D 0.694 P 0.000 U 0.868 N 1.785 L 4.66 T -1.100 T 0.013 T 0.512 3.017 16.06 4.21 1.553 4.777 12.956 3.016895 3.016895 0.12 0.002674 0.000454 NA NA NA 12.8275594 376 4 37591783 37591783 G A exonic C4orf19 NA nonsynonymous SNV C4orf19:NM_018302:exon3:c.G106A:p.D36N,C4orf19:NM_001104629:exon4:c.G106A:p.D36N exonic ENSG00000154274 NA nonsynonymous SNV ENSG00000154274:ENST00000284437:exon3:c.G106A:p.D36N,ENSG00000154274:ENST00000381980:exon4:c.G106A:p.D36N Score=278;Name=lod=18 NA 4p14 NA NA NA NA rs75469859 0.0014 0.0014 NA 0.00119808 0.003 NA 0.0014 NA 0.002 0.004 NA NA NA 0.0014 0.004 0.08 T 0.977 D 0.787 P 0.462 N 1.000 N 1.59 L 1.49 T -0.973 T 0.129 T 0.104 4.191 21.7 5.54 2.884 3.783 13.080 4.191373 4.191373 0.01 0.001744 0 NA NA NA 12.8271894 377 7 89854446 89854446 T G exonic STEAP2 NA nonsynonymous SNV STEAP2:NM_001244945:exon2:c.T50G:p.F17C,STEAP2:NM_152999:exon2:c.T50G:p.F17C,STEAP2:NM_001040665:exon3:c.T50G:p.F17C,STEAP2:NM_001040666:exon3:c.T50G:p.F17C,STEAP2:NM_001244944:exon3:c.T50G:p.F17C,STEAP2:NM_001244946:exon3:c.T50G:p.F17C exonic ENSG00000157214 NA nonsynonymous SNV ENSG00000157214:ENST00000287908:exon2:c.T50G:p.F17C,ENSG00000157214:ENST00000394626:exon2:c.T50G:p.F17C,ENSG00000157214:ENST00000402625:exon2:c.T50G:p.F17C,ENSG00000157214:ENST00000428074:exon2:c.T50G:p.F17C,ENSG00000157214:ENST00000394621:exon3:c.T50G:p.F17C,ENSG00000157214:ENST00000394622:exon3:c.T50G:p.F17C,ENSG00000157214:ENST00000394629:exon3:c.T50G:p.F17C,ENSG00000157214:ENST00000394632:exon3:c.T50G:p.F17C,ENSG00000157214:ENST00000426158:exon3:c.T50G:p.F17C Score=507;Name=lod=153 NA 7q21.13 NA NA NA NA rs194520 0.37 0.37 0.335 0.33726 0.5119 0.1825 0.3862 0.2859 0.3517 0.52 0.19 0.4 0.3 0.4686 0.53 0.12 T 0.999 D 0.995 D 0.000 D 0.000 P 0 N 3.4 T -0.903 T 0.000 T 0.387 3.259 16.93 5.83 2.236 5.041 16.213 3.259318 3.259318 0.03 0.528372 0.339764 NA 0.428 NA 12.8244614 377 22 17590180 17590180 G A exonic IL17RA NA nonsynonymous SNV IL17RA:NM_014339:exon13:c.G2071A:p.A691T exonic ENSG00000177663 NA nonsynonymous SNV ENSG00000177663:ENST00000319363:exon13:c.G2071A:p.A691T NA NA 22q11.1 NA NA NA NA rs41323645 0.1 0.1 0.107 0.113818 0.1064 NA 0.0778 0.2352 0.1002 0.11 NA 0.11 0.22 0.3023 0.22 0.2 T 1.0 D 0.926 D 0.039 N 1.000 P 2.14 M 3.27 T -1.045 T 0.000 T 0.075 3.372 17.37 3.56 2.261 1.290 7.722 3.372199 3.372199 0.59 0.100745 0.180666 NA 0.094 NA 12.8238884 377 10 15256194 15256194 G A exonic FAM171A1 NA nonsynonymous SNV FAM171A1:NM_001010924:exon8:c.C1393T:p.P465S exonic ENSG00000148468 NA nonsynonymous SNV ENSG00000148468:ENST00000378116:exon8:c.C1393T:p.P465S Score=423;Name=lod=70 NA 10p13 NA NA NA NA rs3814165 0.12 0.12 0.111 0.124201 0.1859 0.1448 0.1254 0.0129 0.1892 0.19 0.14 0.11 0.02 0.1497 0.19 0.41 T 0.891 P 0.596 P 0.000 D 0.000 P 1.655 L 1.53 T -1.058 T 0.000 T 0.083 2.075 12.9 4.35 1.445 7.060 14.242 2.075108 2.075108 0.33 0.174884 0.042215 NA 0.094 NA 12.8228494 377 16 89613123 89613123 A G exonic SPG7 NA nonsynonymous SNV SPG7:NM_003119:exon11:c.A1507G:p.T503A exonic ENSG00000197912 NA nonsynonymous SNV ENSG00000197912:ENST00000561911:exon1:c.A52G:p.T18A,ENSG00000197912:ENST00000268704:exon11:c.A1507G:p.T503A Score=609;Name=lod=399 NA 16q24.3 NA NA NA NA rs2292954 0.12 0.12 0.102 0.10643 0.168 0.131 0.1124 0.0106 0.1431 0.17 0.13 0.12 0.02 0.1507 0.19 0.27 T 0.0 B 0.002 B 0.000 D 0.000 P 0.2 N -3.48 D -0.928 T 0.002 T 0.126 2.204 13.33 4.33 0.915 2.181 10.941 2.204196 2.204196 0.37 0.193721 0.038217 NA 0.094 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118409.2;CLNDSDB=.;CLNDSDBID=. 12.8209124 377 11 1605957 1605957 C T exonic KRTAP5-1 NA nonsynonymous SNV KRTAP5-1:NM_001005922:exon1:c.G523A:p.G175R exonic ENSG00000205869 NA nonsynonymous SNV ENSG00000205869:ENST00000382171:exon1:c.G523A:p.G175R Score=405;Name=lod=59 NA 11p15.5 NA NA NA NA rs151275365 0.01 0.01 NA NA NA NA NA NA NA 0.02 NA NA NA 0.0052 0.02 0.63 T 0.713 P 0.327 B . . 0.982 N 1.93 M 3.48 T -1.036 T 0.009 T 0.142 -1.292 0.039 2.91 1.185 -1.117 5.975 -1.291524 NA 0 0.01291 0.002726 NA NA NA 12.8152234 378 11 124756982 124756982 G A exonic ROBO4 NA nonsynonymous SNV ROBO4:NM_019055:exon15:c.C2326T:p.R776C exonic ENSG00000154133 NA nonsynonymous SNV ENSG00000154133:ENST00000306534:exon15:c.C2326T:p.R776C,ENSG00000154133:ENST00000533054:exon15:c.C1891T:p.R631C Score=358;Name=lod=38 NA 11q24.2 NA NA NA NA rs138481093 0.0037 0.0037 0.005 0.00199681 0.006 0.001 0.0029 0.0008 NA 0.01 0.0017 0.0028 0.0041 0.005 0.01 0.1 T 0.986 D 0.534 P 0.303 N 0.997 N 1.78 L 0.18 T -0.922 T 0.206 T 0.267 2.484 14.26 3.83 0.955 1.196 7.800 2.483817 2.483817 0.04 0.007444 0.002499 NA NA NA 12.8148894 378 6 154567863 154567863 C T exonic IPCEF1,OPRM1 NA stopgain OPRM1:NM_001008503:exon4:c.C1201T:p.R401X exonic ENSG00000074706,ENSG00000112038 NA stopgain ENSG00000112038:ENST00000337049:exon4:c.C1201T:p.R401X NA NA 6q25.2 NA Name=EBF1_(C-8),Pol2 Name=4 NA rs34427887 0.03 0.03 0.026 0.029353 0.0636 NA 0.0476 0.0061 0.0429 0.05 NA 0.06 0.01 0.0517 0.071 0.36 T . . . . . . 1.000 D . . . . . . . . . 4.341 22.8 -11.0 -3.247 -5.945 6.589 4.341008 4.341008 0.76 0.071512 0.016568 NA 0.036 NA 12.813188 378 4 154709854 154709854 G A exonic SFRP2 NA nonsynonymous SNV SFRP2:NM_003013:exon1:c.C134T:p.A45V exonic ENSG00000145423 NA nonsynonymous SNV ENSG00000145423:ENST00000274063:exon1:c.C134T:p.A45V Score=763;Name=lod=1676 NA 4q31.3 NA Name=TAF7_(SQ-8) NA NA rs4643790 0.16 0.16 0.143 0.149361 0.1879 0.005 0.1066 0.2784 0.1145 0.19 0.01 0.13 0.3 0.1486 0.3 0.34 T 0.013 B 0.038 B 0.000 D 0.000 P 0.72 N -0.63 T -1.090 T 0.000 T 0.168 2.692 14.96 4.63 2.288 5.407 17.889 2.692402 2.692402 0.12 0.183721 0.264866 NA NA NA 12.8131124 379 3 120976051 120976051 C G exonic STXBP5L NA nonsynonymous SNV STXBP5L:NM_014980:exon17:c.C1703G:p.T568S exonic ENSG00000145087 NA nonsynonymous SNV ENSG00000145087:ENST00000471262:exon16:c.C1703G:p.T568S,ENSG00000145087:ENST00000273666:exon17:c.C1703G:p.T568S,ENSG00000145087:ENST00000471454:exon17:c.C1703G:p.T568S,ENSG00000145087:ENST00000472879:exon17:c.C1703G:p.T568S,ENSG00000145087:ENST00000492541:exon17:c.C1703G:p.T568S,ENSG00000145087:ENST00000497029:exon17:c.C1703G:p.T568S Score=651;Name=lod=592 NA 3q13.33 Score=889;Name=V$FOXJ2_02 NA NA NA rs17249244 0.1 0.1 0.085 0.0898562 0.2048 0.004 0.1023 0.0908 0.0501 0.2 0.0017 0.12 0.07 0.1411 0.2 1 T 0.013 B 0.006 B 0.000 D 0.002 P -0.62 N 1.56 T -1.058 T 0.000 T 0.219 0.63 7.387 5.49 2.732 4.931 16.033 0.62996 NA 0.77 0.185753 0.103815 NA 0.167 NA 12.8016804 379 16 31374535 31374535 C G exonic ITGAX NA nonsynonymous SNV ITGAX:NM_000887:exon14:c.C1550G:p.P517R exonic ENSG00000140678 NA nonsynonymous SNV ENSG00000140678:ENST00000268296:exon14:c.C1550G:p.P517R,ENSG00000140678:ENST00000562522:exon14:c.C1550G:p.P517R Score=420;Name=lod=68 NA 16p11.2 Score=744;Name=V$ROAZ_01 NA NA NA rs2230429 0.41 0.41 0.383 0.298722 0.339 0.6766 0.3184 0.1014 0.1207 0.35 0.74 0.36 0.13 0.3313 0.74 0 D 0.996 D 0.727 P . . 0.900 P 1.88 L 1.35 T -1.032 T 0.000 T 0.389 2.682 14.93 4.03 1.952 0.907 13.447 2.681501 2.681501 0.01 0.365465 0.155894 NA 0.312 NA 12.7975684 380 18 44560123 44560123 C T exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G1513A:p.G505R exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G1513A:p.G505R NA NA 18q21.1 NA NA NA NA rs72921305 0.01 0.01 0.006 0.00758786 0.0209 0.006 0.0101 0.0008 0.0031 0.02 0.01 0.01 0.002 0.012 0.02 0.01 D 0.783 P 0.439 B 0.003 N 0.616 N 2.11 M 2.36 T -1.092 T 0.026 T 0.073 2.416 14.04 2.1 1.505 2.357 7.761 2.416024 2.416024 0 0.014535 0.003858 NA 0.022 NA 12.7858984 381 11 123777412 123777412 A G exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.A274G:p.I92V exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.A274G:p.I92V Score=259;Name=lod=15 NA 11q24.1 Score=908;Name=V$GATA_C NA NA NA rs17127950 0.19 0.19 0.196 0.186502 0.1829 0.0933 0.1455 0.2844 0.183 0.19 0.13 0.16 0.27 0.1772 0.27 0.01 D 0.019 B 0.033 B 0.006 N 0.921 P 2.42 M 3.42 T -1.014 T 0.000 T 0.037 0.688 7.674 3.53 0.480 3.218 7.826 0.687645 NA 0.01 0.190161 0.245459 NA 0.196 NA 12.7830724 381 19 21606429 21606429 G T exonic ZNF493 NA nonsynonymous SNV ZNF493:NM_175910:exon2:c.G584T:p.C195F,ZNF493:NM_001076678:exon4:c.G968T:p.C323F exonic ENSG00000196268 NA nonsynonymous SNV ENSG00000196268:ENST00000355504:exon2:c.G584T:p.C195F,ENSG00000196268:ENST00000392288:exon4:c.G968T:p.C323F NA NA 19p12 NA Name=ZNF274 NA NA rs4621113 0.59 0.59 0.563 0.58766 0.5 0.6319 0.5476 0.6589 0.5644 0.49 0.66 0.56 0.68 0.536 0.68 0 D 1.0 D 1.0 D . . 0.000 P 3.495 M -1.94 D -0.915 T 0.000 T 0.099 0.336 5.82 0.985 0.399 6.598 8.758 0.335504 NA 0 0.516651 0.626876 NA 0.435 NA 12.7806824 381 16 58713798 58713798 G A exonic SLC38A7 NA nonsynonymous SNV SLC38A7:NM_018231:exon3:c.C233T:p.T78I exonic ENSG00000103042 NA nonsynonymous SNV ENSG00000103042:ENST00000562397:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000564100:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000564391:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000566598:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000570101:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000219320:exon3:c.C233T:p.T78I,ENSG00000103042:ENST00000563196:exon3:c.C233T:p.T78I Score=422;Name=lod=69 NA 16q21 Score=891;Name=V$AP2_Q6 NA NA NA rs7191331 0.12 0.12 0.112 0.11262 0.1948 0.0228 0.0778 0.0998 0.1626 0.2 0.02 0.09 0.11 0.1645 0.2 . . 0.006 B 0.014 B 0.000 D 0.000 P 0 N 4.35 T -0.769 T 0.000 T 0.306 1.435 10.74 5.91 2.813 2.320 12.495 1.434544 1.434544 0.23 0.194302 0.116015 ID=COSM435471;OCCURENCE=1(breast) 0.072 NA 12.7797314 381 19 5455990 5455990 G A exonic ZNRF4 NA nonsynonymous SNV ZNRF4:NM_181710:exon1:c.G488A:p.R163H exonic ENSG00000105428 NA nonsynonymous SNV ENSG00000105428:ENST00000222033:exon1:c.G488A:p.R163H NA NA 19p13.3 NA NA NA NA rs17304380 0.21 0.21 0.158 0.186701 0.1948 0.3671 0.1916 0.0227 0.2106 0.2 0.36 0.21 0.03 0.1944 0.36 0.03 D 1.0 D 0.984 D 0.000 U 1.000 P 4.355 H 2.71 T -1.008 T 0.000 T 0.285 2.695 14.97 3.57 0.907 2.500 11.461 2.694842 2.694842 0.02 0.166941 0.050093 NA 0.188 NA 12.7771924 382 6 33131501 33131501 G A exonic COL11A2 NA nonsynonymous SNV COL11A2:NM_080679:exon63:c.C4844T:p.P1615L,COL11A2:NM_080681:exon64:c.C4907T:p.P1636L,COL11A2:NM_080680:exon66:c.C5165T:p.P1722L exonic ENSG00000204248 NA nonsynonymous SNV ENSG00000204248:ENST00000361917:exon63:c.C4844T:p.P1615L,ENSG00000204248:ENST00000374708:exon64:c.C4907T:p.P1636L,ENSG00000204248:ENST00000374712:exon64:c.C4922T:p.P1641L,ENSG00000204248:ENST00000374713:exon64:c.C5024T:p.P1675L,ENSG00000204248:ENST00000357486:exon65:c.C5102T:p.P1701L,ENSG00000204248:ENST00000374714:exon65:c.C5087T:p.P1696L,ENSG00000204248:ENST00000395197:exon65:c.C4985T:p.P1662L,ENSG00000204248:ENST00000341947:exon66:c.C5165T:p.P1722L NA NA 6p21.32 NA NA NA NA rs2229792 0.01 0.01 0.014 0.00678914 0.0179 0.003 0.0159 NA 0.002 0.02 0.0035 0.02 0.0041 0.0193 0.025 0.05 D 0.861 P 0.163 B 0.117 N 1.000 N 0.55 N -0.69 T -1.037 T 0.089 T 0.326 1.424 10.7 4.06 1.288 1.031 13.065 1.424038 1.424038 0 0.025471 0.002982 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039838.1;CLNDSDB=.;CLNDSDBID=. 12.7706624 382 6 159178345 159178345 C T exonic SYTL3 NA nonsynonymous SNV SYTL3:NM_001242395:exon12:c.C1036T:p.P346S,SYTL3:NM_001009991:exon13:c.C1036T:p.P346S,SYTL3:NM_001242394:exon14:c.C1240T:p.P414S,SYTL3:NM_001242384:exon15:c.C1240T:p.P414S exonic ENSG00000164674 NA nonsynonymous SNV ENSG00000164674:ENST00000367081:exon6:c.C418T:p.P140S,ENSG00000164674:ENST00000297239:exon13:c.C1240T:p.P414S,ENSG00000164674:ENST00000360448:exon13:c.C1036T:p.P346S Score=374;Name=lod=44 NA 6q25.3 NA NA NA NA rs901363 0.46 0.46 0.457 0.449081 0.328 0.7361 0.598 0.2753 0.407 0.32 0.76 0.52 0.3 0.3987 0.76 0.43 T 0.853 P 0.395 B 0.000 D 0.000 P 2.28 M 3.1 T -1.001 T 0.017 T 0.34 3.572 18.21 5.07 2.356 2.629 12.838 3.572424 3.572424 0.17 0.336395 0.281661 NA 0.428 NA 12.7702384 383 20 47273726 47273726 C T exonic PREX1 NA nonsynonymous SNV PREX1:NM_020820:exon18:c.G1975A:p.V659M exonic ENSG00000124126 NA nonsynonymous SNV ENSG00000124126:ENST00000371941:exon18:c.G1975A:p.V659M,ENSG00000124126:ENST00000396220:exon18:c.G1975A:p.V659M Score=405;Name=lod=59 NA 20q13.13 Score=829;Name=V$AHRARNT_01 Name=SMC3_(ab9263),CTCF Name=19 NA rs55904123 0.15 0.15 0.133 0.160343 0.1839 0.1587 0.2133 0.0363 0.2679 0.18 0.15 0.22 0.04 0.1971 0.22 1 T 0.0 B 0.001 B 0.000 N 0.575 P -0.895 N 2.29 T -0.919 T 0.000 T 0.065 -1.987 0.007 2.8 -0.281 3.541 8.526 -1.987474 NA 1 0.188023 0.077394 ID=COSM1178474,COSM1178473;OCCURENCE=1(prostate) 0.13 NA 12.7643104 383 10 47087078 47087078 G T exonic NPY4R NA nonsynonymous SNV NPY4R:NM_005972:exon3:c.G295T:p.A99S exonic ENSG00000204174 NA nonsynonymous SNV ENSG00000204174:ENST00000395716:exon2:c.G295T:p.A99S,ENSG00000204174:ENST00000374312:exon3:c.G295T:p.A99S Score=525;Name=lod=182 NA 10q11.22 NA NA NA NA rs2229967 0.27 0.27 0.214 NA NA NA NA NA NA 0.27 0.23 0.33 0.27 0.2985 0.33 0.02 D 0.687 P 0.624 P 0.015 N 1.000 N 1.46 L 1.14 T -1.150 T 0.000 T 0.111 1.83 12.08 3.89 2.418 1.524 13.643 1.829727 1.829727 0.01 0.270814 0.2803 NA 0.203 NA 12.7640194 383 9 75315438 75315438 G A exonic TMC1 NA nonsynonymous SNV TMC1:NM_138691:exon8:c.G241A:p.E81K exonic ENSG00000165091 NA nonsynonymous SNV ENSG00000165091:ENST00000396237:exon4:c.G241A:p.E81K,ENSG00000165091:ENST00000340019:exon7:c.G241A:p.E81K,ENSG00000165091:ENST00000297784:exon8:c.G241A:p.E81K Score=611;Name=lod=404 NA 9q21.13 NA NA NA NA rs1796993 0.28 0.28 0.271 0.276358 0.163 0.381 0.2493 0.2708 0.3119 0.17 0.41 0.27 0.29 0.2381 0.41 0.74 T 0.155 B 0.023 B 0.000 D 0.000 P 1.28 L 0.67 T -0.975 T 0.000 T 0.143 3.065 16.23 5.48 2.730 5.552 18.494 3.0649 3.0649 0.34 0.168645 0.262596 NA 0.174 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041139.1;CLNDSDB=.;CLNDSDBID=. 12.7635884 383 14 24771285 24771285 G A exonic NOP9 NA nonsynonymous SNV NOP9:NM_174913:exon4:c.G923A:p.S308N exonic ENSG00000196943 NA nonsynonymous SNV ENSG00000196943:ENST00000267425:exon4:c.G923A:p.S308N,ENSG00000196943:ENST00000396802:exon4:c.G923A:p.S308N Score=363;Name=lod=40 NA 14q12 NA NA NA NA rs4280164 0.15 0.15 0.142 0.150359 0.1849 0.004 0.3473 0.1581 0.1155 0.2 0.01 0.3 0.15 0.183 0.3 0.5 T 0.939 P 0.639 P 0.000 D 0.129 P 1.7 L 2.54 T -0.870 T 0.000 T 0.075 3.531 18.02 5.21 2.717 3.940 13.422 3.531149 3.531149 0.07 0.207326 0.167045 NA 0.13 NA 12.7581074 383 3 165491280 165491280 C T exonic BCHE NA nonsynonymous SNV BCHE:NM_000055:exon4:c.G1699A:p.A567T exonic ENSG00000114200 NA nonsynonymous SNV ENSG00000114200:ENST00000479451:exon3:c.G289A:p.A97T,ENSG00000114200:ENST00000540653:exon3:c.G85A:p.A29T,ENSG00000114200:ENST00000264381:exon4:c.G1699A:p.A567T Score=636;Name=lod=513 Name=Cardiovascular disease risk factors,Butyrylcholinesterase levels 3q26.1 NA NA NA NA rs1803274 0.16 0.16 0.164 0.158546 0.1859 0.1339 0.1225 0.1725 0.1626 0.19 0.16 0.13 0.14 0.1891 0.25 0.07 T 0.001 B 0.012 B 0.019 N 0.933 P 1.895 L -0.18 T -1.017 T 0.001 T 0.246 2.97 15.9 4.14 1.206 4.872 11.972 2.969877 2.969877 0.08 0.201791 0.1896 NA 0.29 CLINSIG=other|pathogenic;CLNDBN=BCHE\x2c_K_variant|CHE*539T;CLNREVSTAT=single|single;CLNACC=RCV000014120.26|RCV000014122.16;CLNDSDB=.|.;CLNDSDBID=.|. 12.7565424 383 2 241817516 241817516 A G exonic AGXT NA nonsynonymous SNV AGXT:NM_000030:exon10:c.A1020G:p.I340M exonic ENSG00000172482 NA nonsynonymous SNV ENSG00000172482:ENST00000307503:exon10:c.A1020G:p.I340M Score=304;Name=lod=23 NA 2q37.3 Score=829;Name=V$XBP1_01 NA NA NA rs4426527 0.14 0.14 0.125 0.111222 0.2038 0.0883 0.1571 0.0356 0.1094 0.21 0.09 0.17 0.06 0.1653 0.21 0.81 T 0.0 B 0.001 B 0.000 N 1.000 P -2.14 N -2.16 D -1.061 T 0.000 T 0.2 -2.217 0.005 2.21 0.010 2.787 8.273 -2.216946 NA 0.38 0.207907 0.064004 NA 0.116 CLINSIG=other;CLNDBN=Primary_hyperoxaluria\x2c_type_I;CLNREVSTAT=mult;CLNACC=RCV000032682.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT;CLNDSDBID=NBK1283:C0268164:259900:ORPHA416:ORPHA93598:65520001 12.7563264 384 4 2916762 2916762 C G exonic ADD1 NA nonsynonymous SNV ADD1:NM_001119:exon13:c.C1757G:p.S586C,ADD1:NM_014189:exon13:c.C1850G:p.S617C,ADD1:NM_014190:exon13:c.C1757G:p.S586C,ADD1:NM_176801:exon13:c.C1850G:p.S617C exonic ENSG00000087274 NA nonsynonymous SNV ENSG00000087274:ENST00000398123:exon12:c.C1850G:p.S617C,ENSG00000087274:ENST00000398129:exon12:c.C1757G:p.S586C,ENSG00000087274:ENST00000264758:exon13:c.C1850G:p.S617C,ENSG00000087274:ENST00000398125:exon13:c.C1850G:p.S617C,ENSG00000087274:ENST00000446856:exon13:c.C1757G:p.S586C,ENSG00000087274:ENST00000503455:exon13:c.C1850G:p.S617C,ENSG00000087274:ENST00000513328:exon13:c.C1757G:p.S586C,ENSG00000087274:ENST00000355842:exon15:c.C1850G:p.S617C NA NA 4p16.3 NA Name=MEF2A,PAX5-N19,EBF1_(C-8) Name=8 NA rs4963 0.27 0.27 0.264 0.237819 0.1909 0.4524 0.1772 0.1702 0.1994 0.2 0.5 0.19 0.17 0.2136 0.5 0.14 T 0.94 P 0.694 P 0.355 N 1.000 P 1.04 L 2.16 T -0.888 T 0.000 T 0.239 1.701 11.65 4.6 1.306 1.284 16.421 1.700709 1.700709 0.05 0.183953 0.17635 NA 0.333 NA 12.7448804 384 12 122186317 122186317 G A exonic TMEM120B NA nonsynonymous SNV TMEM120B:NM_001080825:exon3:c.G274A:p.D92N exonic ENSG00000188735 NA nonsynonymous SNV ENSG00000188735:ENST00000541467:exon2:c.G211A:p.D71N,ENSG00000188735:ENST00000342607:exon3:c.G274A:p.D92N,ENSG00000188735:ENST00000449592:exon3:c.G274A:p.D92N Score=584;Name=lod=314 NA 12q24.31 NA Name=Pol2 Name=7 NA rs28655666 0.47 0.47 0.46 0.425919 0.5467 0.5179 0.4481 0.2103 0.4826 0.56 0.54 0.48 0.23 0.4962 0.56 0.06 T 0.007 B 0.022 B 0.000 D 0.000 P 1.59 L 1.26 T -0.934 T 0.000 T 0.072 3.18 16.64 3.45 1.384 5.310 11.992 3.18021 3.18021 0.03 0.545584 0.255243 ID=COSM1599921,COSM1599922;OCCURENCE=1(central_nervous_system) 0.333 NA 12.7448494 384 12 25243115 25243115 G C exonic LRMP NA nonsynonymous SNV LRMP:NM_001204126:exon12:c.G590C:p.C197S,LRMP:NM_001204127:exon12:c.G590C:p.C197S,LRMP:NM_006152:exon13:c.G590C:p.C197S exonic ENSG00000118308 NA nonsynonymous SNV ENSG00000118308:ENST00000536173:exon9:c.G431C:p.C144S,ENSG00000118308:ENST00000547044:exon12:c.G590C:p.C197S,ENSG00000118308:ENST00000548766:exon12:c.G590C:p.C197S,ENSG00000118308:ENST00000354454:exon13:c.G590C:p.C197S,ENSG00000118308:ENST00000361433:exon13:c.G590C:p.C197S Score=352;Name=lod=36 NA 12p12.1 NA NA NA NA rs1908946 0.53 0.53 0.505 0.499401 0.5189 0.8095 0.5231 0.1657 0.5941 0.53 0.78 0.56 0.21 0.5386 0.78 0.07 T 0.943 P 0.674 P 0.000 D 0.000 P 2.215 M 2.39 T -0.924 T 0.000 T 0.51 4.833 27.5 5.76 2.732 5.897 17.468 4.832726 4.832726 0.09 0.53186 0.229687 NA 0.413 NA 12.7439734 385 17 40818699 40818699 A G exonic TUBG2 NA nonsynonymous SNV TUBG2:NM_016437:exon11:c.A1237G:p.M413V exonic ENSG00000037042 NA nonsynonymous SNV ENSG00000037042:ENST00000251412:exon11:c.A1237G:p.M413V Score=686;Name=lod=819 NA 17q21.2 NA Name=Pol2 NA NA rs1046097 0.46 0.46 0.439 0.477835 0.5258 0.4643 0.4697 0.3147 0.6687 0.53 0.46 0.43 0.36 0.5287 0.56 0.66 T 0.0 B 0.0 B 0.000 D 0.155 P 1.265 L -1.93 D -0.986 T 0.000 T 0.097 1.499 10.96 5.07 2.132 7.164 14.989 1.498948 1.498948 0.45 0.544535 0.340445 NA 0.594 NA 12.7342984 385 3 9970121 9970121 C T exonic IL17RC NA nonsynonymous SNV IL17RC:NM_001203265:exon10:c.C965T:p.P322L,IL17RC:NM_032732:exon10:c.C965T:p.P322L,IL17RC:NM_001203263:exon11:c.C1010T:p.P337L,IL17RC:NM_001203264:exon11:c.C1010T:p.P337L,IL17RC:NM_153460:exon11:c.C1010T:p.P337L,IL17RC:NM_153461:exon11:c.C1223T:p.P408L exonic ENSG00000163702 NA nonsynonymous SNV ENSG00000163702:ENST00000416074:exon9:c.C578T:p.P193L,ENSG00000163702:ENST00000438091:exon9:c.C890T:p.P297L,ENSG00000163702:ENST00000383812:exon10:c.C965T:p.P322L,ENSG00000163702:ENST00000436503:exon10:c.C935T:p.P312L,ENSG00000163702:ENST00000455057:exon10:c.C965T:p.P322L,ENSG00000163702:ENST00000295981:exon11:c.C1223T:p.P408L,ENSG00000163702:ENST00000403601:exon11:c.C1010T:p.P337L,ENSG00000163702:ENST00000413608:exon11:c.C1010T:p.P337L Score=321;Name=lod=27 NA 3p25.3 Score=874;Name=V$NF1_Q6 NA NA NA rs115419420 0.02 0.02 0.025 0.0153754 0.0398 NA 0.0173 0.0174 0.002 0.05 NA 0.01 0.02 0.026 0.05 1 T 0.799 P 0.276 B 0.022 N 0.985 D 1.23 L 2.66 T -1.004 T 0.004 T 0.487 1.099 9.485 2.73 1.222 0.855 5.503 1.099131 NA 0.31 0.037674 0.027916 ID=COSM1567088;OCCURENCE=1(large_intestine) 0.007 NA 12.7298594 385 18 43497710 43497710 A G exonic EPG5 NA nonsynonymous SNV EPG5:NM_020964:exon17:c.T3173C:p.V1058A exonic ENSG00000152223 NA nonsynonymous SNV ENSG00000152223:ENST00000282041:exon17:c.T3173C:p.V1058A Score=612;Name=lod=408 NA 18q12.3 NA NA NA NA rs3744998 0.49 0.49 0.463 0.426917 0.5497 0.5734 0.4222 0.2602 0.3783 0.55 0.56 0.48 0.31 0.4909 0.57 0.01 D 0.884 P 0.636 P 0.000 D 0.000 P 1.845 L 2.48 T -0.921 T 0.000 T 0.33 3.644 18.53 5.4 2.178 6.681 15.712 3.644132 3.644132 0.01 0.56508 0.293103 NA 0.464 NA 12.7276534 386 6 31323337 31323337 T C exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon4:c.A652G:p.I218V exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000434333:exon3:c.A685G:p.I229V,ENSG00000234745:ENST00000412585:exon4:c.A652G:p.I218V NA NA 6p21.33 Score=833;Name=V$SREBP1_02 Name=USF-1,Pol2,Pol2-4H8 Name=4 NA rs1050341 0.27 0.27 0.262 0.292532 0.2097 0.2034 0.2853 0.3994 0.3303 0.2 0.25 0.3 0.36 0.2329 0.36 1 T 0.0 B 0.001 B 0.060 N 1.000 P 1.19 L 2.59 T -1.003 T 0.006 T 0.138 -0.331 2.431 -6.41 -1.842 -3.036 8.999 -0.330915 NA 0.39 0.166395 0.321153 NA 0.246 NA 12.7243384 386 11 102651313 102651313 G C exonic MMP10 NA nonsynonymous SNV MMP10:NM_002425:exon1:c.C10G:p.L4V exonic ENSG00000166670 NA nonsynonymous SNV ENSG00000166670:ENST00000279441:exon1:c.C10G:p.L4V,ENSG00000166670:ENST00000539681:exon1:c.C10G:p.L4V NA NA 11q22.2 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(C-20),NANOG_(SC-33759),CTCF_(SC-5916),c-Jun,JunD Name=123 NA rs17435959 0.08 0.08 0.075 0.0834665 0.0358 0.0486 0.0389 0.1982 0.045 0.04 0.05 0.03 0.2 0.051 0.2 0.04 D 0.914 P 0.351 B 0.019 N 1.000 P 2.85 M 2.58 T -1.076 T 0.000 T 0.191 1.21 9.913 1.59 0.478 1.532 8.088 1.209925 NA 0.09 0.030472 0.153881 NA 0.058 NA 12.7160614 387 4 72433545 72433545 A C exonic SLC4A4 NA nonsynonymous SNV SLC4A4:NM_001134742:exon25:c.A3220C:p.I1074L exonic ENSG00000080493 NA nonsynonymous SNV ENSG00000080493:ENST00000425175:exon25:c.A3220C:p.I1074L Score=672;Name=lod=715 NA 4q13.3 Score=904;Name=V$OCT1_07 NA NA NA rs1062677 0.16 0.16 0.144 0.171725 0.1849 0.1181 0.3487 0.0998 0.1851 0.17 0.09 0.3 0.11 0.2603 0.3 0.02 D 0.0 B 0.0 B . . 0.000 P 0.345 N -1.21 T -1.090 T 0.000 T 0.062 2.372 13.89 4.42 1.053 3.445 13.123 2.371522 2.371522 0.05 0.186659 0.126204 NA 0.152 NA 12.7014744 387 14 73989145 73989145 G A exonic HEATR4 NA nonsynonymous SNV HEATR4:NM_203309:exon2:c.C712T:p.R238C,HEATR4:NM_001220484:exon3:c.C712T:p.R238C exonic ENSG00000187105 NA nonsynonymous SNV ENSG00000187105:ENST00000334988:exon2:c.C712T:p.R238C,ENSG00000187105:ENST00000560393:exon2:c.C571T:p.R191C,ENSG00000187105:ENST00000553558:exon3:c.C712T:p.R238C NA NA 14q24.3 NA NA NA NA rs78901745 0.03 0.03 0.029 0.0303514 0.0487 0.002 0.0403 0.0431 0.0164 0.04 NA 0.06 0.04 0.0385 0.06 0 D 0.995 D 0.609 P 0.364 N 1.000 N 0.895 L 0.88 T -1.112 T 0.016 T 0.387 3.263 16.95 4.97 2.815 1.142 13.091 3.263202 3.263202 0.02 0.048488 0.040399 NA 0.029 NA 12.6976454 388 20 47859217 47859217 G A exonic DDX27 NA nonsynonymous SNV DDX27:NM_017895:exon19:c.G2296A:p.G766S exonic ENSG00000124228 NA nonsynonymous SNV ENSG00000124228:ENST00000371764:exon19:c.G2296A:p.G766S Score=531;Name=lod=191 NA 20q13.13 NA NA NA NA rs1130146 0.29 0.29 0.255 0.272564 0.4085 0.3234 0.3271 0.0567 0.3333 0.41 0.29 0.34 0.07 0.3498 0.41 0.37 T 0.983 D 0.748 P 0.000 D 0.000 P 1.04 L 4.89 T -0.652 T 0.000 T 0.193 4.86 27.8 4.95 1.487 7.104 14.258 4.860053 4.860053 0.05 0.381744 0.106219 NA 0.225 NA 12.6932894 388 12 6635274 6635274 G A exonic NCAPD2 NA nonsynonymous SNV NCAPD2:NM_014865:exon19:c.G2389A:p.V797M exonic ENSG00000010292 NA nonsynonymous SNV ENSG00000010292:ENST00000382457:exon16:c.G2005A:p.V669M,ENSG00000010292:ENST00000545962:exon18:c.G2254A:p.V752M,ENSG00000010292:ENST00000315579:exon19:c.G2389A:p.V797M Score=505;Name=lod=150 NA 12p13.31 NA NA NA NA rs10849482 0.11 0.11 0.092 0.107827 0.2107 0.0089 0.1354 0.0242 0.1973 0.21 0.01 0.18 0.04 0.1933 0.24 0.11 T 0.947 P 0.66 P 0.000 D 0.245 P 1.74 L 0.46 T -1.123 T 0.000 T 0.622 4.01 20.6 5.62 2.653 2.367 13.892 4.010233 4.010233 0.01 0.236047 0.056514 NA 0.087 NA 12.6932864 388 2 55436934 55436934 G A exonic CLHC1 NA nonsynonymous SNV CLHC1:NM_001135598:exon4:c.C167T:p.A56V,CLHC1:NM_152385:exon6:c.C533T:p.A178V exonic ENSG00000162994 NA nonsynonymous SNV ENSG00000162994:ENST00000406076:exon4:c.C167T:p.A56V,ENSG00000162994:ENST00000407122:exon5:c.C533T:p.A178V,ENSG00000162994:ENST00000401408:exon6:c.C533T:p.A178V Score=278;Name=lod=18 NA 2p16.1 NA NA NA NA rs9677948 0.21 0.21 0.226 0.210264 0.2137 0.0853 0.1715 0.3699 0.1472 0.21 0.08 0.17 0.4 0.2075 0.4 0.24 T 0.953 P 0.556 P 0.052 N 0.000 P 1.935 M 2.15 T -0.912 T 0.000 T 0.062 3.768 19.13 3.33 1.195 2.381 5.118 3.767599 3.767599 0.06 0.219339 0.359737 NA 0.254 NA 12.6927944 388 16 78420775 78420775 G A exonic WWOX NA nonsynonymous SNV WWOX:NM_016373:exon6:c.G535A:p.A179T exonic ENSG00000186153 NA nonsynonymous SNV ENSG00000186153:ENST00000408984:exon6:c.G535A:p.A179T,ENSG00000186153:ENST00000566780:exon6:c.G535A:p.A179T Score=686;Name=lod=818 NA 16q23.1 Score=779;Name=V$PAX2_01 NA NA NA rs11545029 0.33 0.33 0.302 0.263379 0.6064 0.0635 0.4035 0.1067 0.229 0.6 0.08 0.42 0.13 0.4507 0.6 0.14 T 0.098 B 0.076 B 0.000 D 0.000 P 0.7 N -2.28 D -0.928 T 0.000 T 0.664 3.128 16.46 5.52 2.597 8.072 19.451 3.128484 3.128484 0.05 0.583474 0.195003 NA 0.232 NA 12.6927594 388 6 29910759 29910759 T C exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon2:c.T299C:p.V100A,HLA-A:NM_002116:exon2:c.T299C:p.V100A exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon2:c.T299C:p.V100A,ENSG00000206503:ENST00000376806:exon2:c.T299C:p.V100A,ENSG00000206503:ENST00000376809:exon2:c.T299C:p.V100A,ENSG00000206503:ENST00000396634:exon4:c.T299C:p.V100A NA NA 6p22.1 NA Name=CTCF,Pol2-4H8 Name=11 NA rs1071742 NA NA 0.146 0.154553 0.1928 0.0704 0.1225 0.1445 0.2382 NA NA NA NA 0.1853 0.27 0.18 T 0.0 B 0.004 B 0.035 N 1.000 P 2.065 M 5.69 T -0.920 T 0.001 T 0.174 0.281 5.521 -6.67 -1.834 -2.538 0.464 0.280982 NA 0.26 0.266807 0.149499 NA NA NA 12.6884264 388 20 34596371 34596371 C T exonic CNBD2 NA nonsynonymous SNV CNBD2:NM_001207076:exon9:c.C1123T:p.P375S,CNBD2:NM_080834:exon9:c.C1123T:p.P375S exonic ENSG00000149646 NA nonsynonymous SNV ENSG00000149646:ENST00000349339:exon9:c.C1123T:p.P375S,ENSG00000149646:ENST00000373973:exon9:c.C1123T:p.P375S,ENSG00000149646:ENST00000538900:exon9:c.C1123T:p.P375S Score=265;Name=lod=16 NA 20q11.23 Score=849;Name=V$LUN1_01 NA NA NA rs6060750 0.24 0.24 0.243 0.309904 0.2018 0.3135 0.1859 0.3359 0.4703 0.2 0.25 0.22 0.31 0.2429 0.31 0.34 T 0.42 B 0.09 B 0.003 N 0.175 P 2.075 M 2.75 T -0.923 T 0.000 T 0.299 1.724 11.72 4.5 2.797 2.944 13.009 1.723698 1.723698 0.46 0.201977 0.30345 NA 0.188 NA 12.6866564 388 8 33246591 33246591 G C exonic FUT10 NA nonsynonymous SNV FUT10:NM_032664:exon4:c.C1102G:p.L368V exonic ENSG00000172728 NA nonsynonymous SNV ENSG00000172728:ENST00000518672:exon3:c.C1018G:p.L340V,ENSG00000172728:ENST00000327671:exon4:c.C1102G:p.L368V,ENSG00000172728:ENST00000524021:exon4:c.C1018G:p.L340V,ENSG00000172728:ENST00000335589:exon5:c.C916G:p.L306V Score=419;Name=lod=67 NA 8p12 NA NA NA NA rs17855838 0.22 0.22 0.224 0.272963 0.1938 0.4683 0.1671 0.0855 0.4816 0.18 0.44 0.15 0.07 0.2509 0.44 0.08 T 0.918 P 0.596 P 0.005 N 0.000 P 2.81 M 1.81 T -0.902 T 0.000 T 0.225 2.799 15.32 4.09 2.493 1.797 10.244 2.799234 2.799234 0.02 0.202907 0.120291 ID=COSM150482;OCCURENCE=1(stomach) 0.203 NA 12.6857264 389 5 32786389 32786389 A G exonic NPR3 NA nonsynonymous SNV NPR3:NM_000908:exon8:c.A1561G:p.N521D,NPR3:NM_001204375:exon8:c.A1564G:p.N522D,NPR3:NM_001204376:exon8:c.A913G:p.N305D exonic ENSG00000113389 NA nonsynonymous SNV ENSG00000113389:ENST00000265074:exon8:c.A1564G:p.N522D,ENSG00000113389:ENST00000415167:exon8:c.A1561G:p.N521D,ENSG00000113389:ENST00000415685:exon8:c.A913G:p.N305D,ENSG00000113389:ENST00000434067:exon8:c.A916G:p.N306D Score=663;Name=lod=662 NA 5p13.3 NA Name=BAF155,BAF170,STAT1,PRDM1_(Val90),EBF,AP-2alpha NA NA rs2270915 0.18 0.18 0.152 0.195487 0.1879 0.2024 0.2147 0.0991 0.3129 0.2 0.21 0.19 0.1 0.2587 0.21 0.23 T 0.001 B 0.003 B 0.000 D 0.039 P 0 N 0.92 T -1.064 T 0.000 T 0.054 1.976 12.56 5.0 1.137 4.122 13.745 1.975892 1.975892 0.25 0.201885 0.116876 NA 0.145 NA 12.6848484 389 12 52995020 52995020 C T exonic KRT72 NA nonsynonymous SNV KRT72:NM_001146225:exon1:c.G217A:p.G73S,KRT72:NM_001146226:exon1:c.G217A:p.G73S,KRT72:NM_080747:exon1:c.G217A:p.G73S exonic ENSG00000170486 NA nonsynonymous SNV ENSG00000170486:ENST00000293745:exon1:c.G217A:p.G73S,ENSG00000170486:ENST00000354310:exon1:c.G217A:p.G73S,ENSG00000170486:ENST00000537672:exon1:c.G217A:p.G73S,ENSG00000170486:ENST00000550829:exon1:c.G197A:p.R66Q Score=399;Name=lod=56 NA 12q13.13 NA NA NA NA rs57242225 0.08 0.08 0.082 0.0804712 0.0477 0.0218 0.0591 0.1982 0.0307 0.04 0.02 0.07 0.18 0.0649 0.18 0.19 T 0.618 P 0.177 B 0.112 N 0.000 P 2.13 M -1.79 D -0.982 T 0.001 T 0.388 2.955 15.85 3.09 1.269 0.532 2.837 2.954785 2.954785 0.09 0.044744 0.148105 NA 0.116 NA 12.6759894 390 17 39637244 39637244 A G exonic KRT35 NA nonsynonymous SNV KRT35:NM_002280:exon1:c.T106C:p.S36P exonic ENSG00000197079 NA nonsynonymous SNV ENSG00000197079:ENST00000246639:exon1:c.T16C:p.S6P,ENSG00000197079:ENST00000393989:exon1:c.T106C:p.S36P Score=346;Name=lod=34 NA 17q21.2 NA NA NA NA rs743686 0.53 0.53 0.519 0.574481 0.5398 0.3333 0.5591 0.7352 0.6524 0.54 0.3 0.61 0.74 0.5732 0.74 0.07 T 0.999 D 0.933 D 0.027 N 0.221 P 2.11 M -1.58 D -0.853 T 0.000 T 0.48 3.235 16.84 5.31 2.231 0.577 9.117 3.234991 3.234991 0.05 0.548226 0.708952 NA 0.594 NA 12.6721074 390 12 52981627 52981627 A T exonic KRT72 NA nonsynonymous SNV KRT72:NM_001146226:exon6:c.T972A:p.D324E,KRT72:NM_001146225:exon7:c.T1098A:p.D366E,KRT72:NM_080747:exon7:c.T1098A:p.D366E exonic ENSG00000170486 NA nonsynonymous SNV ENSG00000170486:ENST00000354310:exon6:c.T972A:p.D324E,ENSG00000170486:ENST00000293745:exon7:c.T1098A:p.D366E,ENSG00000170486:ENST00000537672:exon7:c.T1098A:p.D366E,ENSG00000170486:ENST00000398066:exon8:c.T534A:p.D178E Score=376;Name=lod=45 NA 12q13.13 Score=860;Name=V$YY1_01 Name=CTCF NA NA rs7310138 0.17 0.17 0.165 0.142372 0.2465 0.1349 0.1455 0.1127 0.0808 0.24 0.12 0.16 0.11 0.1854 0.24 0.03 D 0.008 B 0.063 B 0.001 D 1.000 P -0.695 N -2.36 D -1.030 T 0.000 T 0.104 1.196 9.862 0.958 0.055 -0.414 9.489 1.196455 NA 0.08 0.229767 0.136632 NA 0.225 NA 12.6716664 390 21 43708422 43708422 G A exonic ABCG1 NA synonymous SNV ABCG1:NM_004915:exon10:c.G1260A:p.S420S,ABCG1:NM_016818:exon10:c.G1224A:p.S408S,ABCG1:NM_207174:exon10:c.G1257A:p.S419S,ABCG1:NM_207629:exon10:c.G1215A:p.S405S,ABCG1:NM_207627:exon11:c.G1230A:p.S410S,ABCG1:NM_207628:exon12:c.G1158A:p.S386S exonic ENSG00000160179 NA synonymous SNV ENSG00000160179:ENST00000343687:exon10:c.G1257A:p.S419S,ENSG00000160179:ENST00000347800:exon10:c.G1215A:p.S405S,ENSG00000160179:ENST00000361802:exon10:c.G1260A:p.S420S,ENSG00000160179:ENST00000398449:exon10:c.G1224A:p.S408S,ENSG00000160179:ENST00000340588:exon11:c.G1584A:p.S528S,ENSG00000160179:ENST00000398437:exon11:c.G1698A:p.S566S,ENSG00000160179:ENST00000398457:exon11:c.G1230A:p.S410S Score=596;Name=lod=353 NA 21q22.3 Score=819;Name=V$PAX2_01 NA Name=33 NA rs141061143 0.0009 0.0009 NA 0.00139776 NA NA 0.0014 0.0045 NA NA NA NA 0.0041 0.0002 0.0041 . . . . . . . . 1.000 D . . . . -0.818 T 0.217 T . 1.669 11.54 2.3 0.883 3.009 9.973 1.669497 1.669497 NA 0 0.000681 NA NA NA 12.6664666 390 18 48331553 48331553 T C exonic MRO NA nonsynonymous SNV MRO:NM_001127174:exon4:c.A400G:p.T134A,MRO:NM_001127175:exon4:c.A442G:p.T148A,MRO:NM_001127176:exon4:c.A442G:p.T148A,MRO:NM_031939:exon5:c.A400G:p.T134A exonic ENSG00000134042 NA nonsynonymous SNV ENSG00000134042:ENST00000431965:exon4:c.A442G:p.T148A,ENSG00000134042:ENST00000436348:exon4:c.A442G:p.T148A,ENSG00000134042:ENST00000588444:exon4:c.A400G:p.T134A,ENSG00000134042:ENST00000592966:exon4:c.A400G:p.T134A,ENSG00000134042:ENST00000256425:exon5:c.A400G:p.T134A,ENSG00000134042:ENST00000398439:exon5:c.A400G:p.T134A,ENSG00000134042:ENST00000428869:exon6:c.A400G:p.T134A Score=485;Name=lod=125 NA 18q21.2 NA NA NA NA rs2849233 0.29 0.29 0.27 0.25639 0.4056 0.2798 0.3401 0.0484 0.3006 0.42 0.28 0.37 0.05 0.3613 0.42 1 T 0.978 D 0.719 P 0.002 N 0.194 P 2.135 M 1.49 T -0.919 T 0.000 T 0.412 3.04 16.14 5.71 2.177 2.464 12.350 3.039804 3.039804 0.09 0.400814 0.116659 NA 0.268 NA 12.6656194 391 3 38645420 38645420 T C exonic SCN5A NA nonsynonymous SNV SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R exonic ENSG00000183873 NA nonsynonymous SNV ENSG00000183873:ENST00000414099:exon11:c.A1673G:p.H558R,ENSG00000183873:ENST00000423572:exon11:c.A1673G:p.H558R,ENSG00000183873:ENST00000449557:exon11:c.A1673G:p.H558R,ENSG00000183873:ENST00000450102:exon11:c.A1673G:p.H558R,ENSG00000183873:ENST00000455624:exon11:c.A1673G:p.H558R,ENSG00000183873:ENST00000333535:exon12:c.A1673G:p.H558R,ENSG00000183873:ENST00000413689:exon12:c.A1673G:p.H558R,ENSG00000183873:ENST00000425664:exon12:c.A1673G:p.H558R,ENSG00000183873:ENST00000443581:exon12:c.A1673G:p.H558R,ENSG00000183873:ENST00000451551:exon12:c.A1673G:p.H558R Score=481;Name=lod=120 NA 3p22.2 Score=817;Name=V$GFI1_01 NA NA NA rs1805124 0.21 0.21 0.217 0.230431 0.2167 0.1012 0.2277 0.3094 0.273 0.22 0.11 0.21 0.3 0.2217 0.3 1 T 0.0 B 0.0 B 0.009 N 0.998 P -2.085 N -3.39 D -0.924 T 0.000 T 0.29 -0.946 0.349 2.44 0.109 1.656 15.575 -0.945829 NA 1 0.232092 0.274833 ID=COSM1422826,COSM1422824,COSM1422825;OCCURENCE=1(large_intestine) 0.188 CLINSIG=pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Progressive_familial_heart_block_type_1A|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000010000.1|RCV000041604.1|RCV000058440.2;CLNDSDB=MedGen:OMIM:Orphanet|.|.;CLNDSDBID=C1879286:113900:ORPHA871|.|. 12.6628414 391 17 39579059 39579059 G A exonic KRT37 NA stopgain KRT37:NM_003770:exon3:c.C703T:p.Q235X exonic ENSG00000108417 NA stopgain ENSG00000108417:ENST00000225550:exon3:c.C703T:p.Q235X Score=455;Name=lod=94 NA 17q21.2 NA NA NA NA rs78158550 0.17 0.17 0.092 0.172125 0.1759 0.3214 0.1268 0.034 0.2331 0.18 0.31 0.13 0.04 0.1619 0.31 0 D . . . . 0.512 N 0.000 P . . . . . . . . . 4.683 25.9 3.87 1.016 3.380 13.752 4.682848 4.682848 0 NA NA NA 0.109 NA 12.6622 392 2 142567910 142567910 T C exonic LRP1B NA nonsynonymous SNV LRP1B:NM_018557:exon2:c.A143G:p.Q48R exonic ENSG00000168702 NA nonsynonymous SNV ENSG00000168702:ENST00000389484:exon2:c.A143G:p.Q48R,ENSG00000168702:ENST00000434794:exon2:c.A143G:p.Q48R Score=670;Name=lod=703 NA 2q22.2 Score=968;Name=V$LYF1_01 Name=USF2,USF-1 NA NA rs12990449 0.22 0.22 0.231 0.217452 0.2296 0.3532 0.1787 0.0658 0.2975 0.22 0.37 0.16 0.06 0.2338 0.37 0.54 T 0.001 B 0.005 B 0.002 N 0.797 P 0.315 N -3.68 D -1.072 T 0.000 T 0.269 2.335 13.77 4.45 0.946 3.525 7.876 2.335108 2.335108 0.15 0.215349 0.096913 NA 0.196 NA 12.6545844 392 1 27332466 27332466 T C exonic FAM46B NA nonsynonymous SNV FAM46B:NM_052943:exon2:c.A1247G:p.H416R exonic ENSG00000158246 NA nonsynonymous SNV ENSG00000158246:ENST00000289166:exon2:c.A1247G:p.H416R Score=537;Name=lod=203 NA 1p36.11 NA Name=Pol2 Name=42 NA rs61737590 0.04 0.04 0.026 0.0457268 0.0577 0.0069 0.0403 0.0628 0.0542 0.04 0.01 0.04 0.06 0.0559 0.067 0.64 T 0.67 P 0.231 B 0.937 N 0.998 N -0.695 N 1.99 T -1.026 T 0.002 T 0.037 -0.365 2.28 3.54 0.418 1.382 8.960 -0.364833 NA 0.13 0.067093 0.057649 NA 0.022 NA 12.6526404 392 1 12339619 12339619 A T exonic VPS13D NA nonsynonymous SNV VPS13D:NM_015378:exon20:c.A4514T:p.E1505V,VPS13D:NM_018156:exon20:c.A4514T:p.E1505V exonic ENSG00000048707 NA nonsynonymous SNV ENSG00000048707:ENST00000356315:exon20:c.A4514T:p.E1505V,ENSG00000048707:ENST00000358136:exon20:c.A4514T:p.E1505V Score=596;Name=lod=354 NA 1p36.22 NA NA NA NA rs4845898 0.17 0.17 0.151 0.161142 0.2356 0.1964 0.2118 0.0151 0.2096 0.23 0.2 0.21 0.03 0.2162 0.23 0.18 T 0.925 P 0.491 P 0.000 D 0.000 P 0.695 N 0.59 T -1.097 T 0.000 T 0.238 3.472 17.77 6.02 2.304 4.771 16.542 3.471713 3.471713 0.09 0.22907 0.043123 NA 0.101 NA 12.6524634 392 5 147593497 147593497 C A exonic SPINK6 NA nonsynonymous SNV SPINK6:NM_205841:exon3:c.C106A:p.P36T,SPINK6:NM_001195290:exon4:c.C106A:p.P36T exonic ENSG00000178172 NA nonsynonymous SNV ENSG00000178172:ENST00000325630:exon3:c.C106A:p.P36T,ENSG00000178172:ENST00000514389:exon4:c.C106A:p.P36T Score=562;Name=lod=256 NA 5q32 NA NA NA NA rs12186491 0.7 0.7 0.659 0.679313 0.9185 0.6954 0.8833 0.2489 0.8538 0.91 0.67 0.88 0.26 0.8441 0.92 0.04 D 1.0 D 0.999 D 0.000 D 0.044 P . . -0.84 T -0.934 T 0.000 T 0.3 2.024 12.72 5.75 2.885 1.358 15.818 2.02375 2.02375 0.27 0.923023 0.384022 NA 0.659 NA 12.6477104 392 2 68364478 68364478 T C exonic WDR92 NA nonsynonymous SNV WDR92:NM_001256476:exon6:c.A721G:p.M241V,WDR92:NM_138458:exon6:c.A721G:p.M241V exonic ENSG00000243667 NA nonsynonymous SNV ENSG00000243667:ENST00000295121:exon6:c.A721G:p.M241V,ENSG00000243667:ENST00000406245:exon6:c.A418G:p.M140V,ENSG00000243667:ENST00000409164:exon6:c.A721G:p.M241V Score=643;Name=lod=545 NA 2p14 NA NA Name=2 NA rs13009282 0.17 0.17 0.166 0.177316 0.2177 0.1538 0.1988 0.1641 0.1626 0.22 0.16 0.17 0.13 0.2123 0.26 0.23 T 0.0 B 0.001 B 0.000 D 0.000 P 1.4 L 1.71 T -1.091 T 0.000 T 0.368 2.063 12.86 4.81 2.308 3.431 12.234 2.063138 2.063138 0.05 0.257558 0.159555 ID=COSM148870;OCCURENCE=1(stomach) 0.319 NA 12.6457754 393 6 31239082 31239082 G C exonic HLA-C NA synonymous SNV HLA-C:NM_001243042:exon3:c.C387G:p.P129P,HLA-C:NM_002117:exon3:c.C387G:p.P129P exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376237:exon3:c.C370G:p.R124G NA NA 6p21.33 NA Name=Pol2-4H8 Name=74 NA rs1050384 0.21 0.21 0.126 0.223043 0.2157 0.1766 0.2651 0.2625 0.1953 0.2 0.19 0.21 0.23 0.1398 0.23 0 D . . . . . . 0.011 P . . . . -0.972 T 0.046 T . -0.665 1.086 -5.62 -4.526 -6.812 5.265 -0.665366 NA 0 NA NA NA 0.051 NA 12.6445 393 11 4510587 4510587 C T exonic OR52K1 NA nonsynonymous SNV OR52K1:NM_001005171:exon1:c.C457T:p.R153W exonic ENSG00000196778 NA nonsynonymous SNV ENSG00000196778:ENST00000307632:exon1:c.C457T:p.R153W NA NA 11p15.4 Score=743;Name=V$PAX4_04 NA NA NA rs331510 0.2 0.2 0.173 0.220647 0.2416 0.2282 0.1441 0.115 0.3885 0.22 0.25 0.19 0.11 0.2259 0.25 0.01 D 0.067 B 0.034 B 0.001 D 1.000 P 2.57 M 8.9 T -0.990 T 0.000 T 0.177 0.284 5.539 2.18 0.661 -2.560 7.901 0.284441 NA 0.01 0.229874 0.130622 NA 0.138 NA 12.6359594 394 1 207872595 207872595 A G exonic CR1L NA nonsynonymous SNV CR1L:NM_175710:exon8:c.A1204G:p.N402D exonic ENSG00000197721 NA nonsynonymous SNV ENSG00000197721:ENST00000294997:exon7:c.A1036G:p.N346D,ENSG00000197721:ENST00000508064:exon8:c.A1204G:p.N402D Score=304;Name=lod=23 NA 1q32.2 NA Name=CTCF NA NA rs12729569 0.14 0.14 0.105 0.111621 0.2535 0.0317 0.1441 0.053 0.1043 0.26 0.04 0.18 0.05 0.1888 0.26 0.3 T 0.994 D 0.968 D . . 1.000 P 1.25 L -0.03 T -1.083 T 0.000 T 0.04 2.416 14.04 1.65 1.027 3.166 5.443 2.416352 2.416352 0.19 0.262844 0.089532 NA 0.051 NA 12.6281894 394 7 550467 550467 G A exonic PDGFA NA synonymous SNV PDGFA:NM_002607:exon4:c.C432T:p.R144R,PDGFA:NM_033023:exon4:c.C432T:p.R144R exonic ENSG00000197461 NA synonymous SNV ENSG00000197461:ENST00000354513:exon4:c.C432T:p.R144R,ENSG00000197461:ENST00000400761:exon4:c.C459T:p.R153R,ENSG00000197461:ENST00000402802:exon4:c.C432T:p.R144R Score=387;Name=lod=50 NA 7p22.3 Score=809;Name=V$PAX4_01 NA Name=3 NA rs149090369 0.02 0.02 0.008 0.0323482 0.003 NA 0.1398 0.0439 0.0041 0.01 NA 0.07 0.03 0.0336 0.07 0.02 D . . . . 0.000 D 0.846 D . . . . -0.801 T 0.028 T . -0.929 0.381 -1.84 -0.293 -0.053 10.925 -0.928605 NA NA 0.00291 0.042935 NA 0.014 NA 12.6271566 395 1 151015868 151015868 G A exonic BNIPL NA nonsynonymous SNV BNIPL:NM_001159642:exon6:c.G431A:p.S144N,BNIPL:NM_138278:exon6:c.G677A:p.S226N exonic ENSG00000163141 NA nonsynonymous SNV ENSG00000163141:ENST00000485855:exon3:c.G431A:p.S144N,ENSG00000163141:ENST00000295294:exon6:c.G431A:p.S144N,ENSG00000163141:ENST00000368931:exon6:c.G677A:p.S226N Score=577;Name=lod=296 NA 1q21.3 NA NA NA NA rs12068365 0.06 0.06 0.076 0.0583067 0.0656 NA 0.036 0.146 0.0082 0.07 NA 0.04 0.15 0.0611 0.16 0.32 T 0.722 P 0.358 B 0.000 D 0.818 P 0.38 N 1.78 T -1.023 T 0.016 T 0.027 3.267 16.96 4.36 1.160 3.521 7.167 3.267359 3.267359 0.06 0.082442 0.156605 NA 0.065 NA 12.6241914 395 12 101587518 101587518 C T exonic SLC5A8 NA nonsynonymous SNV SLC5A8:NM_145913:exon5:c.G577A:p.V193I exonic ENSG00000256870 NA nonsynonymous SNV ENSG00000256870:ENST00000536262:exon5:c.G577A:p.V193I Score=558;Name=lod=247 NA 12q23.1 NA NA NA NA rs1709189 0.29 0.29 0.317 0.279353 0.2475 0.5437 0.1268 0.2224 0.2249 0.23 0.52 0.15 0.22 0.2393 0.52 0.14 T 0.0 B 0.008 B 0.000 D 0.018 P 0.525 N -2.3 D -0.956 T 0.000 T 0.062 2.545 14.47 3.6 1.291 1.947 12.077 2.54487 2.54487 0.08 0.224419 0.185883 NA 0.232 NA 12.6221144 395 14 60976537 60976537 C A exonic SIX6 NA nonsynonymous SNV SIX6:NM_007374:exon1:c.C421A:p.H141N exonic ENSG00000184302 NA nonsynonymous SNV ENSG00000184302:ENST00000327720:exon1:c.C421A:p.H141N Score=547;Name=lod=222 NA 14q23.1 Score=895;Name=V$MYOD_01 NA NA NA rs33912345 0.39 0.39 0.354 0.341454 0.5974 0.2133 0.6599 0.0318 0.4029 0.61 0.24 0.6 0.04 0.5153 0.61 0.1 T 0.0 B 0.002 B 0.000 D 0.000 P -1.37 N -3.86 D -0.959 T 0.000 T 0.091 0.917 8.731 5.38 2.804 3.798 14.842 0.916682 NA 0.59 0.599093 0.116659 NA 0.42 NA 12.6215404 395 1 12389953 12389953 T C exonic VPS13D NA synonymous SNV VPS13D:NM_015378:exon37:c.T8265C:p.D2755D,VPS13D:NM_018156:exon37:c.T8265C:p.D2755D exonic ENSG00000048707 NA synonymous SNV ENSG00000048707:ENST00000356315:exon37:c.T8265C:p.D2755D,ENSG00000048707:ENST00000358136:exon37:c.T8265C:p.D2755D Score=560;Name=lod=251 NA 1p36.22 Score=684;Name=V$BRACH_01 NA NA NA rs79566132 0.02 0.02 0.02 0.0221645 0.0099 NA 0.0144 0.0628 0.0082 0.01 NA 0.02 0.07 0.0176 0.07 . . . . . . . . 1.000 D . . . . -1.041 T 0.029 T . 1.2 9.877 4.63 1.108 1.658 11.833 1.20047 NA NA 0.01907 0.065365 NA 0.014 NA 12.6200966 395 3 154018887 154018887 G C exonic DHX36 NA nonsynonymous SNV DHX36:NM_001114397:exon10:c.C1247G:p.S416C,DHX36:NM_020865:exon10:c.C1247G:p.S416C exonic ENSG00000174953 NA nonsynonymous SNV ENSG00000174953:ENST00000308361:exon10:c.C1247G:p.S416C,ENSG00000174953:ENST00000329463:exon10:c.C1247G:p.S416C,ENSG00000174953:ENST00000481941:exon10:c.C989G:p.S330C,ENSG00000174953:ENST00000496811:exon10:c.C1247G:p.S416C,ENSG00000174953:ENST00000544526:exon10:c.C1247G:p.S416C Score=621;Name=lod=444 NA 3q25.2 NA NA NA NA rs9438 0.41 0.41 0.378 0.414337 0.4115 0.4841 0.4049 0.3949 0.3783 0.4 0.46 0.4 0.38 0.4018 0.46 0.14 T 0.97 D 0.698 P 0.000 D 0.044 P 1.24 L 2.49 T -0.816 T 0.000 T 0.257 2.232 13.42 5.89 2.788 4.847 16.498 2.23161 2.23161 0.12 0.402442 0.357694 NA 0.355 NA 12.6175914 396 8 145114844 145114844 C T exonic OPLAH NA nonsynonymous SNV OPLAH:NM_017570:exon2:c.G92A:p.R31Q exonic ENSG00000178814 NA nonsynonymous SNV ENSG00000178814:ENST00000426825:exon2:c.G92A:p.R31Q Score=526;Name=lod=183 NA 8q24.3 Score=849;Name=V$HMX1_01 NA NA NA rs7004867 0.07 0.07 0.077 0.0617013 0.0865 0.001 0.0504 0.1195 0.0286 0.08 0.0017 0.06 0.14 0.0624 0.14 0.29 T 0.8 P 0.243 B 0.000 N 0.004 P . . . . -1.073 T 0.001 T 0.084 1.295 10.24 4.37 1.221 4.204 11.898 1.294808 1.294808 0.36 0.070925 0.110016 ID=COSM454210;OCCURENCE=2(breast) 0.058 NA 12.6135084 396 1 206634526 206634526 T A exonic SRGAP2 NA unknown UNKNOWN exonic ENSG00000163486 NA nonsynonymous SNV ENSG00000163486:ENST00000414007:exon19:c.T2557A:p.S853T Score=579;Name=lod=301 NA 1q32.1 Score=816;Name=V$ARP1_01 NA NA NA rs116377172 0.01 0.01 0.013 0.0071885 0.0229 NA 0.0159 0.0015 NA 0.03 NA 0.03 0.0041 0.0131 0.03 0.33 T . . . . 0.000 D . . . . 2.99 T -1.094 T 0.018 T 0.425 2.461 14.19 5.96 2.285 4.946 16.448 2.461103 2.461103 0.15 0.02027 0.004757 NA NA NA 12.6103967 396 10 99125949 99125949 C T exonic RRP12 NA nonsynonymous SNV RRP12:NM_001145114:exon27:c.G3250A:p.G1084S,RRP12:NM_015179:exon29:c.G3433A:p.G1145S exonic ENSG00000052749 NA nonsynonymous SNV ENSG00000052749:ENST00000536831:exon23:c.G2587A:p.G863S,ENSG00000052749:ENST00000315563:exon26:c.G3133A:p.G1045S,ENSG00000052749:ENST00000414986:exon27:c.G3250A:p.G1084S,ENSG00000052749:ENST00000370992:exon29:c.G3433A:p.G1145S Score=456;Name=lod=95 NA 10q24.1 NA NA NA NA rs2275580 0.44 0.44 0.393 0.395966 0.5934 0.3968 0.562 0.1271 0.4376 0.6 0.43 0.57 0.12 0.5342 0.6 0.52 T 0.991 D 0.359 B 0.000 D 0.000 P 2.045 M 1.5 T -0.932 T 0.000 T 0.25 3.819 19.39 4.28 2.422 5.615 12.141 3.819004 3.819004 0.11 0.597209 0.210622 NA 0.399 NA 12.6085244 396 12 112471090 112471090 G T exonic NAA25 NA nonsynonymous SNV NAA25:NM_024953:exon23:c.C2743A:p.L915I exonic ENSG00000111300 NA nonsynonymous SNV ENSG00000111300:ENST00000261745:exon23:c.C2743A:p.L915I Score=637;Name=lod=518 NA 12q24.13 NA NA NA NA rs12298022 0.11 0.11 0.12 0.11242 0.0706 NA 0.098 0.298 0.0307 0.06 NA 0.12 0.3 0.0811 0.3 0.16 T 0.957 D 0.458 P 0.004 N 0.023 P 0.55 N 1.31 T -0.985 T 0.000 T 0.074 2.622 14.73 5.01 2.816 3.008 14.549 2.621707 2.621707 0.24 0.07314 0.257149 NA 0.109 NA 12.6084934 396 14 20444607 20444607 C G exonic OR4K15 NA nonsynonymous SNV OR4K15:NM_001005486:exon1:c.C930G:p.I310M exonic ENSG00000169488 NA nonsynonymous SNV ENSG00000169488:ENST00000305051:exon1:c.C930G:p.I310M Score=336;Name=lod=31 NA 14q11.2 NA NA NA NA rs10135467 0.18 0.18 0.174 0.219449 0.2227 0.123 0.1715 0.2186 0.3507 0.23 0.12 0.18 0.2 0.2371 0.27 0 D 1.0 D 0.988 D 0.000 D 0.935 P 2.195 M 0.41 T -1.081 T 0.000 T 0.334 2.005 12.66 -0.451 -0.217 -0.927 3.784 2.004692 2.004692 0.01 0.265581 0.240009 NA 0.196 NA 12.6079524 397 5 118861713 118861713 A G exonic HSD17B4 NA nonsynonymous SNV HSD17B4:NM_001199292:exon18:c.A1621G:p.I541V,HSD17B4:NM_000414:exon19:c.A1675G:p.I559V,HSD17B4:NM_001199291:exon20:c.A1750G:p.I584V exonic ENSG00000133835 NA nonsynonymous SNV ENSG00000133835:ENST00000513628:exon14:c.A1264G:p.I422V,ENSG00000133835:ENST00000509514:exon15:c.A889G:p.I297V,ENSG00000133835:ENST00000515320:exon18:c.A1621G:p.I541V,ENSG00000133835:ENST00000256216:exon19:c.A1675G:p.I559V,ENSG00000133835:ENST00000414835:exon19:c.A1255G:p.I419V,ENSG00000133835:ENST00000504811:exon20:c.A1750G:p.I584V,ENSG00000133835:ENST00000510025:exon20:c.A1603G:p.I535V Score=461;Name=lod=100 NA 5q23.1 Score=935;Name=V$NKX25_02 NA NA NA rs11205 0.41 0.41 0.384 0.40016 0.4125 0.4177 0.4683 0.4092 0.3088 0.44 0.37 0.45 0.37 0.411 0.45 0.17 T 0.791 P 0.332 B 0.000 D 0.000 P 0.885 L -1.4 T -0.983 T 0.000 T 0.329 2.588 14.61 5.39 2.050 3.836 14.383 2.58774 2.58774 0.08 0.40907 0.395322 ID=COSM1130959;OCCURENCE=1(prostate) 0.333 NA 12.6007634 397 9 36087876 36087876 G A exonic RECK NA nonsynonymous SNV RECK:NM_021111:exon9:c.G823A:p.V275I exonic ENSG00000122707 NA nonsynonymous SNV ENSG00000122707:ENST00000377966:exon9:c.G823A:p.V275I Score=480;Name=lod=119 NA 9p13.3 NA NA NA NA rs16932912 0.15 0.15 0.129 0.129593 0.0785 0.2659 0.1225 0.0968 0.091 0.08 0.28 0.11 0.11 0.0888 0.28 0.03 D 0.665 P 0.103 B 0.008 N 0.652 P -0.345 N 0.94 T -1.019 T 0.000 T 0.107 2.634 14.77 5.48 2.575 4.794 16.841 2.63429 2.63429 0.51 0.066512 0.091693 NA 0.101 NA 12.5995214 397 10 61831271 61831271 T C exonic ANK3 NA nonsynonymous SNV ANK3:NM_020987:exon37:c.A9368G:p.K3123R exonic ENSG00000151150 NA nonsynonymous SNV ENSG00000151150:ENST00000280772:exon37:c.A9368G:p.K3123R Score=652;Name=lod=597 NA 10q21.2 NA NA NA NA rs10821668 0.15 0.15 0.126 0.125799 0.2724 0.0347 0.2104 0.0204 0.1513 0.27 0.04 0.22 0.03 0.2019 0.27 0.54 T 0.001 B 0.004 B 0.000 D 0.000 P -0.895 N -0.03 T -1.059 T 0.000 T 0.078 -1.292 0.039 5.23 1.983 4.653 9.621 -1.291949 NA 0.85 0.26093 0.051294 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116349.2;CLNDSDB=.;CLNDSDBID=. 12.5981034 398 20 43547677 43547677 T G exonic PABPC1L NA nonsynonymous SNV PABPC1L:NM_001124756:exon4:c.T634G:p.S212A exonic ENSG00000101104 NA nonsynonymous SNV ENSG00000101104:ENST00000217073:exon4:c.T634G:p.S212A,ENSG00000101104:ENST00000217074:exon4:c.T634G:p.S212A,ENSG00000101104:ENST00000255136:exon4:c.T634G:p.S212A,ENSG00000101104:ENST00000537323:exon4:c.T634G:p.S212A Score=505;Name=lod=151 NA 20q13.12 Score=824;Name=V$GRE_C NA NA NA rs2075960 0.23 0.23 0.205 0.23143 0.2515 0.2123 0.3458 0.1838 0.2137 0.24 0.22 0.33 0.17 0.2465 0.33 0.29 T 0.013 B 0.066 B 0.001 D 0.000 P 0.68 N -2.0 D -1.093 T 0.000 T 0.075 1.411 10.66 3.94 0.929 3.107 12.128 1.411498 1.411498 0.33 0.243439 0.172513 NA 0.152 NA 12.5918944 398 15 85341859 85341859 G A exonic ZNF592 NA nonsynonymous SNV ZNF592:NM_014630:exon8:c.G2777A:p.S926N exonic ENSG00000166716 NA nonsynonymous SNV ENSG00000166716:ENST00000299927:exon5:c.G2777A:p.S926N,ENSG00000166716:ENST00000560079:exon8:c.G2777A:p.S926N Score=417;Name=lod=66 NA 15q25.3 Score=897;Name=V$MEIS1_01 NA NA NA rs8182086 0.34 0.34 0.324 0.378395 0.2326 0.4782 0.3602 0.3775 0.4397 0.24 0.45 0.34 0.38 0.2926 0.45 0.55 T 0.208 B 0.038 B 0.016 N 0.848 P 0.345 N 6.26 T -0.973 T 0.000 T 0.113 2.74 15.12 4.75 2.439 1.816 15.291 2.740064 2.740064 0.18 0.21947 0.328189 ID=COSM1375070;OCCURENCE=1(large_intestine) 0.406 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118956.2;CLNDSDB=.;CLNDSDBID=. 12.5886634 399 3 57902639 57902639 G A exonic SLMAP NA synonymous SNV SLMAP:NM_007159:exon19:c.G2043A:p.Q681Q exonic ENSG00000163681 NA synonymous SNV ENSG00000163681:ENST00000442599:exon6:c.G498A:p.Q166Q,ENSG00000163681:ENST00000494088:exon7:c.G573A:p.Q191Q,ENSG00000163681:ENST00000495364:exon8:c.G696A:p.Q232Q,ENSG00000163681:ENST00000416870:exon18:c.G573A:p.Q191Q,ENSG00000163681:ENST00000449503:exon18:c.G1980A:p.Q660Q,ENSG00000163681:ENST00000295952:exon19:c.G2043A:p.Q681Q,ENSG00000163681:ENST00000295951:exon20:c.G2043A:p.Q681Q,ENSG00000163681:ENST00000428312:exon20:c.G2094A:p.Q698Q Score=698;Name=lod=916 NA 3p14.3 Score=881;Name=V$STAT5A_01 NA NA NA rs17745496 0.02 0.02 0.013 0.0133786 0.0388 NA 0.0259 0.0023 0.0072 0.03 NA 0.02 0.002 0.0233 0.033 . . . . . . . . 1.000 D . . . . -0.701 T 0.147 T . 0.222 5.196 4.99 1.482 2.674 14.727 0.221671 NA NA 0.032209 0.004766 NA 0.022 NA 12.5723576 399 11 125769354 125769354 T C exonic HYLS1 NA nonsynonymous SNV HYLS1:NM_001134793:exon3:c.T91C:p.C31R,HYLS1:NM_145014:exon4:c.T91C:p.C31R exonic ENSG00000198331 NA nonsynonymous SNV ENSG00000198331:ENST00000425380:exon3:c.T91C:p.C31R,ENSG00000198331:ENST00000526028:exon3:c.T91C:p.C31R,ENSG00000198331:ENST00000356438:exon4:c.T91C:p.C31R Score=397;Name=lod=55 NA 11q24.2 NA NA NA NA rs667782 0.3 0.3 0.306 0.299321 0.2416 0.3542 0.2291 0.3177 0.3272 0.26 0.37 0.19 0.35 0.2831 0.37 0.01 D 0.853 P 0.549 P 0.010 N 0.000 P 1.61 L -0.81 T -1.095 T 0.000 T 0.391 3.646 18.54 6.17 2.371 4.052 15.052 3.646288 3.646288 0 0.237962 0.301 NA 0.304 NA 12.5706714 399 10 115489167 115489167 G A exonic CASP7 NA nonsynonymous SNV CASP7:NM_033340:exon8:c.G746A:p.R249K exonic ENSG00000165806 NA nonsynonymous SNV ENSG00000165806:ENST00000369331:exon8:c.G746A:p.R249K Score=544;Name=lod=216 NA 10q25.3 Score=853;Name=V$OCT1_05 NA NA NA rs2227309 0.27 0.27 0.257 0.2498 0.2525 0.4087 0.2579 0.1346 0.2331 0.24 0.42 0.28 0.14 0.2595 0.42 0 D 0.176 B 0.066 B . . 0.000 P . . 3.07 T -0.927 T 0.000 T . 2.737 15.11 3.97 1.450 4.005 11.314 2.736679 2.736679 0 0.252674 0.14798 NA 0.21 NA 12.5686594 399 15 86278309 86278309 G A exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_001270546:exon23:c.G3232A:p.G1078S,AKAP13:NM_006738:exon31:c.G7381A:p.G2461S,AKAP13:NM_007200:exon31:c.G7369A:p.G2457S exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000394510:exon18:c.G2104A:p.G702S,ENSG00000170776:ENST00000361243:exon31:c.G7381A:p.G2461S,ENSG00000170776:ENST00000394518:exon31:c.G7369A:p.G2457S Score=343;Name=lod=33 NA 15q25.3 NA NA NA NA rs2241268 0.16 0.16 0.147 0.136581 0.2793 0.0486 0.2248 0.0098 0.1892 0.28 0.06 0.23 0.01 0.2189 0.28 0.12 T 0.999 D 0.965 D . . 0.000 P 1.075 L 2.14 T -0.999 T 0.000 T 0.274 3.418 17.55 4.86 1.458 2.615 14.2 3.418288 3.418288 0.07 0.266574 0.044959 NA 0.217 NA 12.5685594 399 17 39742807 39742807 C T exonic KRT14 NA nonsynonymous SNV KRT14:NM_000526:exon1:c.G280A:p.A94T exonic ENSG00000186847 NA nonsynonymous SNV ENSG00000186847:ENST00000167586:exon1:c.G280A:p.A94T Score=295;Name=lod=21 NA 17q21.2 NA NA Name=2 NA rs3826550 0.3 0.3 0.288 0.290735 0.4145 0.0575 0.2709 0.4153 0.2495 0.42 0.05 0.3 0.41 0.3525 0.42 0.39 T 0.048 B 0.08 B 0.714 N 0.999 P 1.795 L -2.51 D -1.073 T 0.000 T 0.317 0.497 6.698 5.11 2.541 0.065 14.229 0.497409 NA 0.5 NA NA NA 0.333 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056702.1;CLNDSDB=.;CLNDSDBID=. 12.5663334 400 3 193081122 193081122 G T exonic ATP13A5 NA nonsynonymous SNV ATP13A5:NM_198505:exon3:c.C287A:p.S96Y exonic ENSG00000187527 NA nonsynonymous SNV ENSG00000187527:ENST00000342358:exon3:c.C287A:p.S96Y,ENSG00000187527:ENST00000446087:exon4:c.C353A:p.S118Y Score=414;Name=lod=64 NA 3q29 NA NA NA NA rs12637558 0.41 0.41 0.38 0.415935 0.4125 0.5764 0.4337 0.2133 0.5153 0.41 0.56 0.4 0.24 0.4347 0.56 0.04 D 0.567 P 0.366 B 0.002 N 0.133 P 2.25 M 0.91 T -0.899 T 0.000 T 0.151 3.255 16.92 4.17 1.428 3.546 13.298 3.255259 3.255259 0.02 0.426279 0.2601 ID=COSM77312;OCCURENCE=1(ovary) 0.319 NA 12.5598544 401 8 86021994 86021994 G A exonic LRRCC1 NA nonsynonymous SNV LRRCC1:NM_033402:exon2:c.G269A:p.C90Y exonic ENSG00000133739 NA nonsynonymous SNV ENSG00000133739:ENST00000414626:exon1:c.G209A:p.C70Y,ENSG00000133739:ENST00000360375:exon2:c.G269A:p.C90Y Score=561;Name=lod=254 NA 8q21.2 NA NA NA NA rs62525422 0.05 0.05 0.04 0.0565096 0.0905 0.0149 0.0389 0.0083 0.1421 0.09 0.01 0.04 0.01 0.0945 0.11 0.06 T 0.969 D 0.66 P 0.022 N 0.549 P 0 N 3.01 T -0.995 T 0.001 T 0.156 2.457 14.18 5.52 2.582 5.294 12.742 2.457495 2.457495 0.08 0.110103 0.019859 NA 0.043 NA 12.5382304 401 11 7079038 7079038 G A exonic NLRP14 NA nonsynonymous SNV NLRP14:NM_176822:exon7:c.G2422A:p.E808K exonic ENSG00000158077 NA nonsynonymous SNV ENSG00000158077:ENST00000299481:exon7:c.G2422A:p.E808K Score=336;Name=lod=31 NA 11p15.4 NA Name=GATA-2 NA NA rs10839708 0.56 0.56 0.552 0.565895 0.6024 0.7063 0.6124 0.3502 0.6421 0.6 0.67 0.59 0.35 0.6051 0.67 0.3 T 0.955 P 0.721 P 0.000 D 0.226 P 1.58 L 1.0 T -0.966 T 0.000 T 0.174 4.279 22.4 3.98 1.205 3.157 9.472 4.278511 4.278511 0.03 0.588338 0.360745 NA 0.478 NA 12.5374954 401 5 145499996 145499996 C T exonic LARS NA nonsynonymous SNV LARS:NM_020117:exon31:c.G3263A:p.R1088K exonic ENSG00000133706 NA nonsynonymous SNV ENSG00000133706:ENST00000274562:exon30:c.G3182A:p.R1061K,ENSG00000133706:ENST00000510191:exon30:c.G3101A:p.R1034K,ENSG00000133706:ENST00000545646:exon30:c.G3125A:p.R1042K,ENSG00000133706:ENST00000394434:exon31:c.G3263A:p.R1088K Score=617;Name=lod=430 NA 5q32 NA NA NA NA rs10988 0.2 0.2 0.169 0.184904 0.2535 0.1984 0.3775 0.0189 0.1881 0.25 0.2 0.3 0.04 0.2643 0.3 0.3 T 0.073 B 0.045 B 0.000 D 0.000 P 1.95 M 0.0 T -1.066 T 0.000 T 0.197 2.82 15.39 4.46 1.371 4.941 14.386 2.819804 2.819804 0.31 0.278721 0.067862 ID=COSM149961;OCCURENCE=1(stomach) 0.275 NA 12.5368124 402 19 52876385 52876385 G A exonic ZNF880 NA nonsynonymous SNV ZNF880:NM_001145434:exon2:c.G34A:p.V12M exonic ENSG00000221923 NA nonsynonymous SNV ENSG00000221923:ENST00000344085:exon2:c.G34A:p.V12M,ENSG00000221923:ENST00000422689:exon2:c.G34A:p.V12M,ENSG00000221923:ENST00000424032:exon2:c.G34A:p.V12M,ENSG00000221923:ENST00000597976:exon2:c.G34A:p.V12M,ENSG00000221923:ENST00000600321:exon2:c.G34A:p.V12M Score=355;Name=lod=37 NA 19q13.41 NA NA NA NA rs14048 0.05 0.05 0.052 0.0403355 0.1163 NA 0.0303 0.0061 0.0573 0.12 NA 0.04 0.01 0.0755 0.12 0.02 D 0.999 D 0.856 P . . 1.000 P 3.685 H 2.88 T -1.059 T 0.002 T 0.305 1.038 9.241 1.61 0.870 1.214 8.247 1.038238 NA 0 0.107794 0.023844 NA 0.022 NA 12.5337394 402 3 108189627 108189627 C T exonic MYH15 NA nonsynonymous SNV MYH15:NM_014981:exon14:c.G1361A:p.R454Q exonic ENSG00000144821 NA nonsynonymous SNV ENSG00000144821:ENST00000273353:exon14:c.G1361A:p.R454Q NA NA 3q13.13 NA NA NA NA rs4299484 0.15 0.15 0.136 0.100839 0.2932 NA 0.1873 0.0098 0.0685 0.3 NA 0.22 0.02 0.207 0.3 0 D 1.0 D 0.999 D . . 1.000 P 2.935 M -2.38 D -1.239 T 0.000 T 0.238 4.411 23.4 2.58 0.557 0.405 7.019 4.411069 4.411069 0 0.300747 0.055611 ID=COSM1130381;OCCURENCE=1(prostate) 0.167 NA 12.5323864 402 1 171753039 171753039 A G exonic METTL13 NA nonsynonymous SNV METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V exonic ENSG00000010165 NA nonsynonymous SNV ENSG00000010165:ENST00000367736:exon1:c.A64G:p.M22V,ENSG00000010165:ENST00000361735:exon2:c.A313G:p.M105V,ENSG00000010165:ENST00000362019:exon2:c.A55G:p.M19V,ENSG00000010165:ENST00000367737:exon2:c.A313G:p.M105V,ENSG00000010165:ENST00000458517:exon3:c.A310G:p.M104V Score=500;Name=lod=144 NA 1q24.3 Score=862;Name=V$BACH2_01 NA NA NA rs2232816 0.34 0.34 0.321 0.306909 0.2445 0.5238 0.2867 0.2829 0.1943 0.24 0.53 0.29 0.3 0.2858 0.53 1 T 0.023 B 0.02 B 0.000 D 0.726 P -0.05 N 1.07 T -1.067 T 0.037 T 0.096 0.723 7.848 5.33 1.987 3.514 7.714 0.723345 NA 0.8 0.272093 0.309578 NA 0.362 NA 12.5309404 402 17 6441376 6441376 G A exonic PITPNM3 NA nonsynonymous SNV PITPNM3:NM_001165966:exon2:c.C49T:p.P17S,PITPNM3:NM_031220:exon2:c.C49T:p.P17S exonic ENSG00000091622 NA nonsynonymous SNV ENSG00000091622:ENST00000262483:exon2:c.C49T:p.P17S,ENSG00000091622:ENST00000421306:exon2:c.C49T:p.P17S Score=493;Name=lod=135 NA 17p13.2 Score=800;Name=V$ARP1_01 NA NA NA rs28493751 0.06 0.06 0.055 0.0533147 0.1103 0.002 0.0648 0.0265 0.0757 0.11 0.0017 0.08 0.03 0.0842 0.11 0.1 T 0.782 P 0.349 B 0.002 N 0.874 P 0 N 1.03 T -1.071 T 0.002 T 0.077 3.534 18.04 4.89 2.439 3.677 13.931 3.534439 3.534439 0.13 0.109186 0.044485 ID=COSM39259;OCCURENCE=1(central_nervous_system) 0.08 NA 12.5296474 402 16 15178499 15178499 G A exonic RRN3 NA nonsynonymous SNV RRN3:NM_018427:exon7:c.C596T:p.S199L exonic ENSG00000085721 NA nonsynonymous SNV ENSG00000085721:ENST00000540462:exon4:c.C149T:p.S50L,ENSG00000085721:ENST00000429751:exon6:c.C506T:p.S169L,ENSG00000085721:ENST00000198767:exon7:c.C596T:p.S199L,ENSG00000085721:ENST00000327307:exon7:c.C497T:p.S166L,ENSG00000085721:ENST00000563559:exon7:c.C596T:p.S199L,ENSG00000085721:ENST00000564131:exon7:c.C596T:p.S199L Score=564;Name=lod=262 NA 16p13.11 NA NA NA NA rs2541719 NA NA 0.189 NA NA NA NA NA NA NA NA NA NA 0.3038 NA . . 0.496 P 0.099 B 0.004 U 1.000 D 1.22 L 1.14 T -1.066 T 0.076 T 0.615 1.466 10.85 3.86 1.700 4.366 12.516 1.465668 1.465668 0.31 NA NA NA NA NA 12.5295334 402 17 55182878 55182878 C T exonic AKAP1 NA nonsynonymous SNV AKAP1:NM_003488:exon2:c.C53T:p.A18V,AKAP1:NM_001242902:exon3:c.C53T:p.A18V,AKAP1:NM_001242903:exon3:c.C53T:p.A18V exonic ENSG00000121057 NA nonsynonymous SNV ENSG00000121057:ENST00000314126:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000337714:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000481416:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000539273:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000572156:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000572557:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000572814:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000573085:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000574683:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000575322:exon2:c.C53T:p.A18V,ENSG00000121057:ENST00000571629:exon3:c.C53T:p.A18V,ENSG00000121057:ENST00000576591:exon3:c.C53T:p.A18V Score=435;Name=lod=78 NA 17q22 NA NA NA NA rs17761023 0.06 0.06 0.055 0.0609026 0.1143 0.005 0.0476 0.0643 0.0685 0.11 0.01 0.04 0.05 0.0885 0.11 0 D 0.545 P 0.068 B 0.000 D 0.000 P 1.31 L 2.21 T -1.067 T 0.001 T 0.406 2.568 14.55 3.65 0.737 3.292 11.434 2.567697 2.567697 0 0.102209 0.068997 NA 0.174 NA 12.5283244 403 1 89479074 89479074 C T exonic GBP3 NA nonsynonymous SNV GBP3:NM_018284:exon6:c.G662A:p.R221Q exonic ENSG00000117226 NA nonsynonymous SNV ENSG00000117226:ENST00000370481:exon6:c.G662A:p.R221Q,ENSG00000117226:ENST00000489444:exon6:c.G662A:p.R221Q Score=391;Name=lod=52 NA 1p22.2 NA NA NA NA rs4656078 0.32 0.32 0.284 0.333866 0.4404 0.3075 0.2925 0.1793 0.4898 0.45 0.28 0.34 0.16 0.4182 0.45 . . 0.997 D 0.693 P 0.096 N 1.000 P 3.41 M -1.87 D -0.152 T 0.555 D 0.051 3.535 18.04 -0.523 -0.185 2.143 4.647 3.535117 3.535117 0.04 0.45314 0.260218 NA 0.246 NA 12.5215934 404 9 215269 215269 A C exonic C9orf66 NA nonsynonymous SNV C9orf66:NM_152569:exon1:c.T128G:p.L43R exonic ENSG00000183784 NA nonsynonymous SNV ENSG00000183784:ENST00000382387:exon1:c.T128G:p.L43R NA NA 9p24.3 NA Name=CTCF,SMC3_(ab9263),Pol2,CCNT2,TBP,ZNF263 Name=8 NA rs636922 0.21 0.21 0.2 0.179513 0.2634 0.3185 0.2104 0.0083 0.1595 0.25 0.32 0.21 0.01 0.3102 0.32 0 D 0.089 B 0.023 B . . 1.000 P 0 N 2.03 T -0.931 T 0.000 T 0.141 1.737 11.77 -6.2 -1.934 -3.285 1.217 1.737391 1.737391 NA 0.24779 0.054595 NA 0.123 NA 12.5119434 404 7 133848257 133848257 G T exonic LRGUK NA nonsynonymous SNV LRGUK:NM_144648:exon7:c.G904T:p.D302Y exonic ENSG00000155530 NA nonsynonymous SNV ENSG00000155530:ENST00000285928:exon7:c.G904T:p.D302Y Score=381;Name=lod=47 NA 7q33 NA NA NA NA rs17167553 0.17 0.17 0.157 0.177516 0.0795 0.3234 0.1599 0.1619 0.1616 0.06 0.31 0.17 0.17 0.1406 0.31 0.01 D 0.902 P 0.332 B 0.456 N 0.966 P 1.355 L 1.86 T -0.934 T 0.000 T 0.127 3.251 16.9 3.77 1.349 1.524 4.382 3.250766 3.250766 0.02 0.101395 0.172492 NA 0.123 NA 12.5118384 404 1 98348885 98348885 G A exonic DPYD NA nonsynonymous SNV DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C exonic ENSG00000188641 NA nonsynonymous SNV ENSG00000188641:ENST00000306031:exon2:c.C85T:p.R29C,ENSG00000188641:ENST00000370192:exon2:c.C85T:p.R29C Score=321;Name=lod=27 NA 1p21.3 NA NA NA NA rs1801265 0.77 0.77 0.758 0.739816 0.7853 0.9137 0.7752 0.5582 0.7342 0.78 0.94 0.77 0.55 0.7652 0.94 0.18 T 0.964 D 0.663 P 0.006 N 0.000 P . . -1.59 D -0.126 T 0.456 T 0.478 3.585 18.26 5.84 2.763 2.235 12.592 3.585293 3.585293 0.17 0.775116 0.600318 NA 0.732 CLINSIG=pathogenic;CLNDBN=Dihydropyrimidine_dehydrogenase_deficiency,not_provided;CLNREVSTAT=single,not;CLNACC=RCV000000464.1,RCV000086506.1;CLNDSDB=MedGen:OMIM,.;CLNDSDBID=C2720286:274270,. 12.5077174 405 1 144915561 144915561 G A exonic PDE4DIP NA stopgain PDE4DIP:NM_001002811:exon10:c.C2353T:p.R785X,PDE4DIP:NM_001002812:exon14:c.C1864T:p.R622X,PDE4DIP:NM_001198834:exon14:c.C1864T:p.R622X,PDE4DIP:NM_014644:exon14:c.C1864T:p.R622X,PDE4DIP:NM_001198832:exon17:c.C2062T:p.R688X exonic ENSG00000178104 NA stopgain ENSG00000178104:ENST00000313431:exon10:c.C2353T:p.R785X,ENSG00000178104:ENST00000479408:exon10:c.C1225T:p.R409X,ENSG00000178104:ENST00000529945:exon10:c.C2353T:p.R785X,ENSG00000178104:ENST00000369349:exon14:c.C1864T:p.R622X,ENSG00000178104:ENST00000369351:exon14:c.C1864T:p.R622X,ENSG00000178104:ENST00000369354:exon14:c.C1864T:p.R622X,ENSG00000178104:ENST00000369356:exon14:c.C1864T:p.R622X,ENSG00000178104:ENST00000313382:exon17:c.C2062T:p.R688X,ENSG00000178104:ENST00000369359:exon17:c.C2275T:p.R759X,ENSG00000178104:ENST00000530740:exon17:c.C2275T:p.R759X Score=412;Name=lod=63 NA 1q21.1 NA NA NA NA rs1778111 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 1 T . . . . . . 1.000 D . . . . . . . . . 8.123 40 3.29 1.327 2.184 4.430 8.122839 8.122839 0.32 NA NA NA 0.493 NA 12.5 406 9 123860689 123860689 C T exonic CNTRL NA nonsynonymous SNV CNTRL:NM_007018:exon5:c.C647T:p.P216L exonic ENSG00000119397 NA nonsynonymous SNV ENSG00000119397:ENST00000238341:exon5:c.C647T:p.P216L,ENSG00000119397:ENST00000373865:exon6:c.C647T:p.P216L,ENSG00000119397:ENST00000373855:exon7:c.C647T:p.P216L Score=527;Name=lod=185 NA 9q33.2 NA NA NA NA rs10818504 0.42 0.42 0.388 0.430911 0.4503 0.5704 0.4957 0.1233 0.637 0.45 0.59 0.49 0.13 0.4586 0.59 0.03 D 0.998 D 0.75 P . . 0.000 P 1.15 L 0.56 T -0.900 T 0.000 T 0.098 4.019 20.6 4.73 1.382 1.322 13.889 4.01853 4.01853 0.1 0.435581 0.180436 NA 0.384 NA 12.4888524 407 1 151512895 151512895 A G exonic TUFT1 NA nonsynonymous SNV TUFT1:NM_001126337:exon1:c.A53G:p.Q18R,TUFT1:NM_020127:exon1:c.A53G:p.Q18R exonic ENSG00000143367 NA nonsynonymous SNV ENSG00000143367:ENST00000353024:exon1:c.A53G:p.Q18R,ENSG00000143367:ENST00000368848:exon1:c.A53G:p.Q18R,ENSG00000143367:ENST00000368849:exon1:c.A53G:p.Q18R,ENSG00000143367:ENST00000392712:exon1:c.A53G:p.Q18R Score=494;Name=lod=136 NA 1q21.3 NA Name=c-Myc,CCNT2,HEY1,ELF1_(SC-631),TCF12,GTF2B,TBP,GTF2F1_(RAP-74),Pol2(b),TAF1,HMGN3,NRSF,SP1,Pol2,STAT3,Ini1,Pol2(phosphoS2),TAF7_(SQ-8),Sin3Ak-20,HA-E2F1,Pol2-4H8,E2F6 Name=144 NA rs3828054 0.1 0.1 0.096 0.111821 0.1133 0.0526 0.098 0.1641 0.1104 0.12 0.03 0.1 0.17 0.1159 0.17 0.77 T 0.688 P 0.218 B 0.205 N 0.000 P 1.79 L 2.28 T -1.046 T 0.024 T 0.135 2.634 14.77 2.54 0.335 1.688 9.012 2.634094 2.634094 0.01 0.124302 0.153881 ID=COSM423832;OCCURENCE=1(breast) 0.101 NA 12.4798314 407 1 94544234 94544234 T C exonic ABCA4 NA nonsynonymous SNV ABCA4:NM_000350:exon10:c.A1268G:p.H423R exonic ENSG00000198691 NA nonsynonymous SNV ENSG00000198691:ENST00000370225:exon10:c.A1268G:p.H423R,ENSG00000198691:ENST00000535735:exon10:c.A1268G:p.H423R Score=467;Name=lod=105 NA 1p22.1 NA NA NA NA rs3112831 0.25 0.25 0.209 0.220847 0.2913 0.254 0.3026 0.1316 0.1769 0.29 0.23 0.29 0.16 0.2553 0.31 0.39 T 0.0 B 0.0 B 0.000 N 0.000 P -2.255 N -1.74 D -1.070 T 0.075 T 0.443 1.795 11.96 5.49 1.341 2.204 14.540 1.795287 1.795287 0.08 0.309419 0.165456 NA 0.246 CLINSIG=other;CLNDBN=not_provided,not_provided;CLNREVSTAT=mult,not;CLNACC=RCV000085383.3,RCV000085382.1;CLNDSDB=.,.;CLNDSDBID=.,. 12.4773144 408 11 123676231 123676231 G T exonic OR6M1 NA nonsynonymous SNV OR6M1:NM_001005325:exon1:c.C827A:p.T276K exonic ENSG00000196099 NA nonsynonymous SNV ENSG00000196099:ENST00000309154:exon1:c.C827A:p.T276K NA NA 11q24.1 NA NA NA NA rs4936845 0.24 0.24 0.214 0.243411 0.2853 0.2946 0.317 0.1029 0.2853 0.29 0.28 0.26 0.11 0.277 0.3 0 D 0.741 P 0.735 P 0.004 U 1.000 P 3.365 M 8.39 T -1.097 T 0.000 T 0.233 2.251 13.48 3.48 1.754 1.794 6.579 2.251267 2.251267 0.01 0.298674 0.122616 ID=COSM1352200;OCCURENCE=1(large_intestine) 0.341 NA 12.4723594 408 6 56420538 56420538 C T exonic DST NA nonsynonymous SNV DST:NM_015548:exon41:c.G6872A:p.R2291H,DST:NM_183380:exon51:c.G7850A:p.R2617H,DST:NM_001144770:exon52:c.G7970A:p.R2657H,DST:NM_001144769:exon54:c.G8384A:p.R2795H exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000244364:exon41:c.G6872A:p.R2291H,ENSG00000151914:ENST00000446842:exon47:c.G13136A:p.R4379H,ENSG00000151914:ENST00000370788:exon51:c.G7850A:p.R2617H,ENSG00000151914:ENST00000421834:exon51:c.G7850A:p.R2617H,ENSG00000151914:ENST00000361203:exon56:c.G14108A:p.R4703H,ENSG00000151914:ENST00000370769:exon57:c.G14114A:p.R4705H,ENSG00000151914:ENST00000370754:exon60:c.G14648A:p.R4883H Score=611;Name=lod=407 NA 6p12.1 NA Name=KAP1 Name=66 NA rs11756977 0.31 0.31 0.316 0.335463 0.2744 0.3482 0.2767 0.388 0.3558 0.25 0.32 0.3 0.4 0.2982 0.4 0.3 T 0.002 B 0.002 B 0.000 N 1.000 P -1.61 N 1.32 T -1.012 T 0.010 T 0.318 2.145 13.13 5.67 1.083 1.649 9.192 2.144711 2.144711 0.12 0.295318 0.346449 NA 0.275 NA 12.4654154 409 11 4790396 4790396 G A exonic OR51F1 NA nonsynonymous SNV OR51F1:NM_001004752:exon1:c.C752T:p.A251V exonic ENSG00000188069 NA nonsynonymous SNV ENSG00000188069:ENST00000343430:exon1:c.C752T:p.A251V,ENSG00000188069:ENST00000380383:exon1:c.C773T:p.A258V NA NA 11p15.4 NA NA NA NA rs17324609 0.07 0.07 0.057 0.0459265 0.1412 NA 0.0951 0.0061 0.0143 0.14 NA 0.13 0.0041 0.0925 0.14 0.01 D 0.984 D 0.886 P 0.559 N 0.000 P 1.075 L 1.52 T -1.102 T 0.001 T 0.187 3.964 20.3 5.24 2.728 2.740 11.825 3.963905 3.963905 0.06 0.13483 0.031804 NA 0.116 NA 12.4648034 409 19 49378994 49378994 A G exonic PPP1R15A NA nonsynonymous SNV PPP1R15A:NM_014330:exon3:c.A1789G:p.T597A exonic ENSG00000087074 NA nonsynonymous SNV ENSG00000087074:ENST00000200453:exon3:c.A1789G:p.T597A Score=440;Name=lod=82 NA 19q13.33 Score=757;Name=V$TAXCREB_02 Name=Pol2,HMGN3,Pol2-4H8,Ini1,YY1,CCNT2 Name=66 NA rs500079 0.34 0.34 0.33 0.358626 0.2813 0.1984 0.2896 0.5832 0.3487 0.28 0.24 0.29 0.58 0.3005 0.58 1 T 0.0 B 0.0 B 0.227 N 1.000 P -1.81 N 2.11 T -0.924 T 0.000 T 0.019 -1.313 0.035 2.81 0.355 1.174 7.697 -1.312913 NA 1 0.28716 0.524739 NA 0.319 NA 12.4643734 409 11 56510623 56510623 A G exonic OR9G4 NA nonsynonymous SNV OR9G4:NM_001005284:exon1:c.T665C:p.V222A exonic ENSG00000172457 NA nonsynonymous SNV ENSG00000172457:ENST00000302957:exon1:c.T665C:p.V222A Score=272;Name=lod=17 NA 11q12.1 NA NA NA NA rs513873 0.2 0.2 0.22 0.188698 0.2992 0.0853 0.1599 0.2163 0.1646 0.31 0.08 0.15 0.23 0.2537 0.32 0.45 T 0.999 D 0.994 D 0.003 N 0.554 P 1.07 L 1.16 T -0.992 T 0.000 T 0.191 2.453 14.16 5.07 2.131 3.072 13.822 2.452759 2.452759 0.41 0.319483 0.238982 NA 0.145 NA 12.4609504 409 11 125617610 125617610 A G exonic PATE1 NA nonsynonymous SNV PATE1:NM_138294:exon4:c.A140G:p.Q47R exonic ENSG00000171053 NA nonsynonymous SNV ENSG00000171053:ENST00000437148:exon3:c.A104G:p.Q35R,ENSG00000171053:ENST00000305738:exon4:c.A140G:p.Q47R Score=333;Name=lod=30 NA 11q24.2 NA NA NA NA rs2114084 0.33 0.33 0.333 0.33746 0.2893 0.4375 0.2219 0.3797 0.3088 0.28 0.39 0.27 0.39 0.2967 0.39 0.25 T 0.998 D 0.929 D 0.060 N 0.957 P 1.245 L 1.37 T -0.934 T 0.000 T 0.294 1.149 9.678 4.19 2.115 1.778 9.922 1.148572 NA 0.32 0.288439 0.377328 NA 0.261 NA 12.4588944 410 17 67081830 67081830 T C exonic ABCA6 NA nonsynonymous SNV ABCA6:NM_080284:exon31:c.A3965G:p.N1322S exonic ENSG00000154262 NA nonsynonymous SNV ENSG00000154262:ENST00000284425:exon31:c.A3965G:p.N1322S Score=512;Name=lod=161 NA 17q24.2 Score=822;Name=V$ROAZ_01 NA NA NA rs2302134 0.45 0.45 0.41 0.459864 0.6481 0.375 0.6729 0.1619 0.6053 0.65 0.32 0.63 0.17 0.5867 0.65 0 D 0.841 P 0.45 P 0.313 N 0.000 P 2.64 M -3.59 D -1.011 T 0.000 T 0.064 3.008 16.03 1.13 0.059 2.103 8.291 3.008083 3.008083 NA 0.646628 0.256922 NA 0.377 NA 12.4519054 410 6 29694680 29694680 A C exonic HLA-F NA nonsynonymous SNV HLA-F:NM_001098479:exon7:c.A1057C:p.N353H exonic ENSG00000204642 NA nonsynonymous SNV ENSG00000204642:ENST00000440587:exon6:c.A670C:p.N224H,ENSG00000204642:ENST00000259951:exon7:c.A1057C:p.N353H Score=737;Name=lod=1318 NA 6p22.1 NA Name=Pol2-4H8 NA NA rs3734814 0.18 0.18 0.156 0.230831 0.1183 0.2917 0.1628 0.2632 0.2883 0.11 0.27 0.14 0.22 0.1778 0.27 0 D 0.982 D 0.712 P . . 0.000 P 1.525 L 5.82 T -0.785 T 0.002 T 0.034 0.143 4.769 0.62 0.488 4.474 5.455 0.142916 NA 0 0.087328 0.164531 NA NA NA 12.4499054 410 6 29694681 29694681 A T exonic HLA-F NA nonsynonymous SNV HLA-F:NM_001098479:exon7:c.A1058T:p.N353I exonic ENSG00000204642 NA nonsynonymous SNV ENSG00000204642:ENST00000440587:exon6:c.A671T:p.N224I,ENSG00000204642:ENST00000259951:exon7:c.A1058T:p.N353I Score=737;Name=lod=1318 NA 6p22.1 NA Name=Pol2-4H8 NA NA rs3734815 0.18 0.18 0.16 0.230831 0.1183 0.2917 0.1628 0.2632 0.2883 0.11 0.27 0.14 0.23 0.1778 0.27 0 D 0.982 D 0.844 P . . 0.000 P 1.525 L 5.82 T -1.060 T 0.059 T 0.095 0.297 5.607 0.62 0.488 6.207 5.455 0.296758 NA 0 0.088848 0.16813 NA NA NA 12.4483854 410 1 1650845 1650845 G A exonic CDK11A,CDK11B NA nonsynonymous SNV CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11B:NM_033486:exon4:c.C277T:p.R93W,CDK11B:NM_033492:exon4:c.C277T:p.R93W,CDK11B:NM_033493:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W,CDK11B:NM_033488:exon5:c.C175T:p.R59W,CDK11B:NM_033489:exon5:c.C175T:p.R59W exonic ENSG00000008128 NA nonsynonymous SNV ENSG00000008128:ENST00000356200:exon3:c.C175T:p.R59W,ENSG00000008128:ENST00000509982:exon3:c.C277T:p.R93W,ENSG00000008128:ENST00000357760:exon4:c.C277T:p.R93W,ENSG00000008128:ENST00000358779:exon4:c.C277T:p.R93W,ENSG00000008128:ENST00000378633:exon4:c.C277T:p.R93W,ENSG00000008128:ENST00000378635:exon4:c.C277T:p.R93W,ENSG00000008128:ENST00000378638:exon4:c.C175T:p.R59W,ENSG00000008128:ENST00000404249:exon4:c.C277T:p.R93W,ENSG00000008128:ENST00000460465:exon4:c.C277T:p.R93W,ENSG00000008128:ENST00000479362:exon4:c.C277T:p.R93W Score=624;Name=lod=456 NA 1p36.33 NA NA NA NA rs1059831 0.46 0.46 0.462 0.747404 0.9215 0.7788 0.879 0.4992 0.7781 0.49 0.47 0.48 0.4 0.4784 0.54 0.08 T 1.0 D 0.999 D 0.082 U 0.990 D 0.975 L 3.65 T -0.768 T 0.000 T 0.574 3.297 17.08 5.3 2.462 6.450 17.983 3.297294 3.297294 0 0.487974 0.366227 NA 0.587 NA 12.4454594 411 1 228525008 228525008 G A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon66:c.G16724A:p.R5575H,OBSCN:NM_052843:exon66:c.G16724A:p.R5575H,OBSCN:NM_001271223:exon77:c.G19595A:p.R6532H exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon66:c.G16724A:p.R5575H,ENSG00000154358:ENST00000366709:exon66:c.G8081A:p.R2694H,ENSG00000154358:ENST00000422127:exon66:c.G16724A:p.R5575H,ENSG00000154358:ENST00000366707:exon72:c.G9626A:p.R3209H,ENSG00000154358:ENST00000570156:exon77:c.G19595A:p.R6532H Score=410;Name=lod=62 NA 1q42.13 Score=773;Name=V$P53_01 NA NA NA rs3795809 0.09 0.09 0.078 0.0766773 0.1252 0.0556 0.1744 0.0189 0.0573 0.13 0.06 0.18 0.02 0.1335 0.18 0.15 T 0.545 P 0.049 B 0.001 N 0.022 P 1.39 L 1.31 T -1.055 T 0.000 T 0.422 3.516 17.96 4.37 2.437 6.878 17.467 3.516358 3.516358 0.02 0.135591 0.035558 ID=COSM1339809,COSM1339808,COSM1339807;OCCURENCE=1(large_intestine) 0.101 NA 12.4390424 411 1 228402121 228402121 A G exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon4:c.A1505G:p.Q502R,ENSG00000154358:ENST00000422127:exon4:c.A1505G:p.Q502R,ENSG00000154358:ENST00000570156:exon4:c.A1505G:p.Q502R Score=452;Name=lod=92 NA 1q42.13 Score=942;Name=V$ZIC3_01 NA Name=2 NA rs1771487 0.7 0.7 0.707 0.719649 0.6362 0.8244 0.6427 0.6815 0.8037 0.63 0.83 0.62 0.71 0.6539 0.83 0.75 T 0.018 B 0.016 B 0.000 D 0.000 P 0.31 N -1.0 T -1.001 T 0.000 T 0.247 3.468 17.76 5.27 1.979 3.871 15.165 3.467805 3.467805 NA 0.606544 0.66319 NA 0.572 NA 12.4366894 411 6 32948426 32948426 C T exonic BRD2 NA synonymous SNV BRD2:NM_001199456:exon12:c.C2196T:p.S732S,BRD2:NM_001113182:exon13:c.C2337T:p.S779S,BRD2:NM_001199455:exon13:c.C2442T:p.S814S,BRD2:NM_005104:exon13:c.C2337T:p.S779S exonic ENSG00000204256 NA synonymous SNV ENSG00000204256:ENST00000449085:exon12:c.C2196T:p.S732S,ENSG00000204256:ENST00000374825:exon13:c.C2337T:p.S779S,ENSG00000204256:ENST00000374831:exon13:c.C2337T:p.S779S,ENSG00000204256:ENST00000395287:exon13:c.C2442T:p.S814S,ENSG00000204256:ENST00000395289:exon14:c.C2442T:p.S814S,ENSG00000204256:ENST00000443797:exon14:c.C1977T:p.S659S Score=538;Name=lod=205 NA 6p21.32 NA Name=Pol2-4H8,Pol2 Name=12 NA rs2071876 0.06 0.06 0.058 0.0605032 0.0805 0.0397 0.0591 0.028 0.1063 0.08 0.05 0.06 0.02 0.07 0.08 . . . . . . . . 1.000 D . . . . -0.885 T 0.162 T . 1.406 10.64 4.34 0.871 3.126 11.739 1.405612 1.405612 NA 0.079734 0.034083 NA 0.051 NA 12.4364326 412 10 22839628 22839628 T C exonic PIP4K2A NA nonsynonymous SNV PIP4K2A:NM_005028:exon7:c.A752G:p.N251S exonic ENSG00000150867 NA nonsynonymous SNV ENSG00000150867:ENST00000604912:exon4:c.A290G:p.N97S,ENSG00000150867:ENST00000323883:exon5:c.A332G:p.N111S,ENSG00000150867:ENST00000376573:exon7:c.A752G:p.N251S,ENSG00000150867:ENST00000545335:exon7:c.A575G:p.N192S Score=633;Name=lod=496 NA 10p12.2 Score=862;Name=V$FAC1_01 NA NA NA rs2230469 0.26 0.26 0.256 0.21226 0.3131 0.3839 0.134 0.0696 0.18 0.33 0.41 0.12 0.08 0.2694 0.41 0.55 T 0.001 B 0.006 B 0.000 D 0.000 P 0.155 N 1.37 T -0.924 T 0.000 T 0.088 1.132 9.613 6.07 2.330 5.912 16.628 1.131741 NA 0.71 0.318605 0.103542 NA 0.29 NA 12.4322284 412 20 43933021 43933021 G T exonic MATN4 NA nonsynonymous SNV MATN4:NM_003833:exon3:c.C490A:p.R164S,MATN4:NM_030590:exon3:c.C490A:p.R164S,MATN4:NM_030592:exon3:c.C490A:p.R164S exonic ENSG00000124159 NA nonsynonymous SNV ENSG00000124159:ENST00000372754:exon2:c.C490A:p.R164S,ENSG00000124159:ENST00000372756:exon2:c.C490A:p.R164S,ENSG00000124159:ENST00000342716:exon3:c.C490A:p.R164S,ENSG00000124159:ENST00000353917:exon3:c.C490A:p.R164S,ENSG00000124159:ENST00000360607:exon3:c.C490A:p.R164S,ENSG00000124159:ENST00000537548:exon4:c.C490A:p.R164S NA NA 20q13.12 Score=785;Name=V$AHRARNT_02 NA NA NA rs2072788 0.38 0.38 0.366 0.395767 0.2634 0.755 0.3444 0.1959 0.4683 0.26 0.73 0.34 0.18 0.3755 0.73 1 T 0.149 B 0.095 B 0.001 D 1.000 P -0.73 N -1.72 D -0.947 T 0.000 T 0.217 -0.228 2.899 3.82 1.258 1.582 7.358 -0.228035 NA 1 0.268128 0.193616 NA 0.21 NA 12.4263054 413 11 48285906 48285906 C T exonic OR4X1 NA nonsynonymous SNV OR4X1:NM_001004726:exon1:c.C494T:p.P165L exonic ENSG00000176567 NA nonsynonymous SNV ENSG00000176567:ENST00000320048:exon1:c.C494T:p.P165L NA NA 11p11.2 NA NA NA NA rs16905753 0.17 0.17 0.162 0.182708 0.1252 0.1627 0.1268 0.3185 0.1186 0.13 0.16 0.12 0.27 0.149 0.29 0 D 0.604 P 0.299 B . . 0.919 P 2.71 M 8.65 T -0.932 T 0.000 T 0.301 3.117 16.41 4.28 2.404 3.311 14.773 3.116671 3.116671 0.01 0.134365 0.286461 ID=COSM147191;OCCURENCE=1(stomach) 0.181 NA 12.4247684 413 11 1780205 1780205 A G exonic CTSD NA synonymous SNV CTSD:NM_001909:exon4:c.T465C:p.T155T exonic ENSG00000117984,ENSG00000250644 NA synonymous SNV ENSG00000117984:ENST00000438213:exon3:c.T420C:p.T140T,ENSG00000117984:ENST00000236671:exon4:c.T465C:p.T155T,ENSG00000117984:ENST00000367196:exon4:c.T360C:p.T120T,ENSG00000117984:ENST00000433655:exon4:c.T465C:p.T155T Score=503;Name=lod=147 NA 11p15.5 Score=814;Name=V$GRE_C NA NA NA rs11555039 0.07 0.07 0.078 0.076278 0.0795 0.0367 0.0605 0.0893 0.1074 0.08 0.03 0.07 0.1 0.0784 0.1 . . . . . . . . 0.000 P . . . . -1.020 T 0.002 T . 1.191 9.842 -6.7 -0.997 -3.061 7.640 1.191211 NA NA 0.084206 0.099909 NA 0.058 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116856.2|RCV000124646.1;CLNDSDB=.|.;CLNDSDBID=.|. 12.4245606 413 11 68840160 68840160 A G exonic TPCN2 NA nonsynonymous SNV TPCN2:NM_139075:exon12:c.A1127G:p.K376R exonic ENSG00000162341 NA nonsynonymous SNV ENSG00000162341:ENST00000294309:exon12:c.A1127G:p.K376R,ENSG00000162341:ENST00000542467:exon12:c.A1127G:p.K376R NA Name=Hair color 11q13.3 Score=909;Name=V$FOXO4_01,V$HFH3_01 Name=NRSF NA NA rs3750965 0.26 0.26 0.256 0.290735 0.3032 0.2063 0.1945 0.2322 0.5123 0.31 0.24 0.23 0.21 0.2934 0.32 0.35 T 0.41 B 0.103 B 0.000 N 0.628 P 1.995 M -4.16 D -1.154 T 0.000 T 0.066 -0.818 0.628 2.61 0.327 0.272 6.529 -0.818239 NA 0.46 0.315557 0.245 ID=COSM1356592;OCCURENCE=1(large_intestine) 0.297 NA 12.4211764 414 7 89983808 89983808 T G exonic GTPBP10 NA nonsynonymous SNV GTPBP10:NM_033107:exon3:c.T264G:p.C88W exonic ENSG00000105793 NA nonsynonymous SNV ENSG00000105793:ENST00000222511:exon3:c.T264G:p.C88W,ENSG00000105793:ENST00000380058:exon3:c.T264G:p.C88W,ENSG00000105793:ENST00000417207:exon3:c.T264G:p.C88W,ENSG00000105793:ENST00000426366:exon3:c.T237G:p.C79W,ENSG00000105793:ENST00000453512:exon3:c.T237G:p.C79W,ENSG00000105793:ENST00000450619:exon4:c.T315G:p.C105W Score=481;Name=lod=120 NA 7q21.13 NA NA Name=2 NA rs42663 0.82 0.82 0.818 0.80012 0.8161 0.8899 0.8012 0.7277 0.7883 0.82 0.88 0.8 0.77 0.8097 0.88 . . 0.959 D 0.781 P 0.036 N 0.000 P 2.415 M 1.99 T -1.097 T 0.000 T 0.238 2.594 14.63 3.22 0.974 1.544 5.858 2.594094 2.594094 0.1 0.794487 0.731276 NA 0.79 NA 12.4130464 414 22 50722134 50722134 T C exonic PLXNB2 NA nonsynonymous SNV PLXNB2:NM_012401:exon15:c.A2467G:p.I823V exonic ENSG00000196576 NA nonsynonymous SNV ENSG00000196576:ENST00000359337:exon15:c.A2467G:p.I823V,ENSG00000196576:ENST00000449103:exon15:c.A2467G:p.I823V Score=378;Name=lod=46 NA 22q13.33 NA NA NA NA rs11547731 0.63 0.63 0.65 0.654353 0.6392 0.5813 0.5548 0.7602 0.6728 0.64 0.53 0.59 0.76 0.6374 0.76 0.11 T 0.999 D 0.998 D 0.014 N 0.003 P 2.295 M -0.09 T -0.942 T 0.000 T 0.131 3.074 16.26 4.22 1.780 2.064 11.353 3.074368 3.074368 0 0.646389 0.761771 ID=COSM445170;OCCURENCE=1(breast) 0.558 NA 12.4103444 414 2 133542585 133542585 C G exonic NCKAP5 NA nonsynonymous SNV NCKAP5:NM_207363:exon14:c.G1799C:p.S600T exonic ENSG00000176771 NA nonsynonymous SNV ENSG00000176771:ENST00000317721:exon12:c.G1799C:p.S600T,ENSG00000176771:ENST00000409261:exon14:c.G1799C:p.S600T Score=472;Name=lod=110 NA 2q21.2 NA NA NA NA rs17325719 0.09 0.09 0.086 0.081869 0.1412 0.0526 0.1052 0.0582 0.0665 0.13 0.04 0.12 0.06 0.1242 0.16 0.01 D 0.882 P 0.367 B 0.026 U 0.000 P 0.895 L 0.97 T -1.129 T 0.001 T 0.122 3.953 20.2 5.64 2.937 5.761 18.068 3.953142 3.953142 0.01 0.157971 0.076026 NA 0.145 NA 12.4099624 415 1 151733335 151733335 T G exonic MRPL9 NA nonsynonymous SNV MRPL9:NM_031420:exon6:c.A629C:p.E210A exonic ENSG00000143436 NA nonsynonymous SNV ENSG00000143436:ENST00000368829:exon5:c.A527C:p.E176A,ENSG00000143436:ENST00000368830:exon6:c.A629C:p.E210A Score=536;Name=lod=201 NA 1q21.3 NA NA NA NA rs8480 0.52 0.52 0.494 0.511981 0.4642 0.4365 0.5951 0.6936 0.3344 0.46 0.4 0.58 0.71 0.4899 0.71 0.16 T 0.968 D 0.581 P 0.003 N 0.014 P 2.135 M 1.41 T -0.991 T 0.081 T 0.267 3.625 18.44 5.27 2.198 4.818 11.508 3.625299 3.625299 0.03 0.478023 0.630277 NA 0.464 NA 12.4012104 415 16 27472772 27472772 C T exonic GTF3C1 NA nonsynonymous SNV GTF3C1:NM_001520:exon37:c.G6229A:p.E2077K exonic ENSG00000077235 NA nonsynonymous SNV ENSG00000077235:ENST00000356183:exon37:c.G6229A:p.E2077K,ENSG00000077235:ENST00000561623:exon37:c.G6154A:p.E2052K NA NA 16p12.1 NA NA NA NA rs2228248 0.09 0.09 0.067 0.0696885 0.16 0.001 0.1844 0.0098 0.047 0.16 NA 0.16 0.01 0.1214 0.16 0.02 D 0.948 P 0.311 B 0.011 N 1.000 P 1.95 M 1.79 T -1.074 T 0.000 T 0.287 3.591 18.29 5.22 2.450 3.221 15.544 3.5905 3.5905 0.02 0.151047 0.038234 NA 0.036 NA 12.4008864 415 11 17409572 17409572 T C exonic KCNJ11 NA nonsynonymous SNV KCNJ11:NM_000525:exon1:c.A67G:p.K23E exonic ENSG00000187486 NA nonsynonymous SNV ENSG00000187486:ENST00000339994:exon1:c.A67G:p.K23E Score=410;Name=lod=62 Name=Type 2 diabetes 11p15.1 Score=820;Name=V$PPARG_03 NA NA NA rs5219 0.73 0.73 0.738 0.737021 0.6471 0.6617 0.7075 0.9766 0.6043 0.66 0.62 0.7 0.97 0.6471 0.97 0.38 T 0.0 B 0.001 B 0.001 N 0.002 P . . -2.18 D -0.974 T 0.000 T 0.349 -0.32 2.478 4.3 0.810 2.065 8.471 -0.320351 NA 0.36 0.639413 0.930682 NA 0.775 CLINSIG=other|drug-response|non-pathogenic;CLNDBN=Diabetes_mellitus_type_2|Exercise_stress_response\x2c_impaired\x2c_association_with|Permanent_neonatal_diabetes_mellitus;CLNREVSTAT=single|single|single;CLNACC=RCV000009214.1|RCV000009215.1|RCV000020356.1;CLNDSDB=MedGen:OMIM:SNOMED_CT|.|GeneReviews:MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C0011860:125853:44054006|.|NBK1447:C1833104:606176:ORPHA79134:ORPHA99885 12.3997204 415 10 96066341 96066341 A G exonic PLCE1 NA nonsynonymous SNV PLCE1:NM_001165979:exon25:c.A4856G:p.H1619R,PLCE1:NM_016341:exon26:c.A5780G:p.H1927R exonic ENSG00000138193 NA nonsynonymous SNV ENSG00000138193:ENST00000371375:exon25:c.A4856G:p.H1619R,ENSG00000138193:ENST00000371380:exon25:c.A5780G:p.H1927R,ENSG00000138193:ENST00000371385:exon25:c.A4856G:p.H1619R,ENSG00000138193:ENST00000260766:exon26:c.A5780G:p.H1927R Score=607;Name=lod=391 Name=Esophageal cancer 10q23.33 Score=909;Name=V$ISRE_01 NA NA NA rs2274223 0.28 0.28 0.299 0.298522 0.338 0.2391 0.2133 0.3797 0.2699 0.32 0.19 0.22 0.35 0.2846 0.39 1 T 0.0 B 0.0 B 0.002 N 1.000 P 0.08 N -0.31 T -1.071 T 0.000 T 0.105 -0.14 3.314 5.43 1.456 3.020 14.426 -0.140122 NA 1 0.311122 0.334078 NA 0.297 NA 12.3996114 415 17 37884037 37884037 C G exonic ERBB2 NA nonsynonymous SNV ERBB2:NM_004448:exon27:c.C3508G:p.P1170A,ERBB2:NM_001005862:exon30:c.C3418G:p.P1140A exonic ENSG00000141736 NA nonsynonymous SNV ENSG00000141736:ENST00000445658:exon21:c.C2680G:p.P894A,ENSG00000141736:ENST00000269571:exon27:c.C3508G:p.P1170A,ENSG00000141736:ENST00000540147:exon27:c.C3418G:p.P1140A,ENSG00000141736:ENST00000541774:exon27:c.C3463G:p.P1155A,ENSG00000141736:ENST00000406381:exon29:c.C3418G:p.P1140A,ENSG00000141736:ENST00000584601:exon31:c.C3418G:p.P1140A Score=514;Name=lod=163 NA 17q12 NA NA NA NA rs1058808 0.49 0.49 0.486 0.452077 0.673 0.4018 0.4784 0.1921 0.6094 0.68 0.48 0.5 0.2 0.607 0.68 0.03 D 0.953 P 0.607 P . . 0.000 P 2.05 M -0.81 T -0.881 T 0.000 T 0.26 4.265 22.3 5.04 2.326 3.926 18.007 4.264979 4.264979 0.02 0.656512 0.234453 NA 0.486 NA 12.3968214 416 1 144916676 144916676 C T exonic PDE4DIP NA stopgain PDE4DIP:NM_001002811:exon9:c.G2168A:p.W723X,PDE4DIP:NM_001002812:exon13:c.G1679A:p.W560X,PDE4DIP:NM_001198834:exon13:c.G1679A:p.W560X,PDE4DIP:NM_014644:exon13:c.G1679A:p.W560X,PDE4DIP:NM_001198832:exon16:c.G1877A:p.W626X exonic ENSG00000178104 NA stopgain ENSG00000178104:ENST00000313431:exon9:c.G2168A:p.W723X,ENSG00000178104:ENST00000479408:exon9:c.G1040A:p.W347X,ENSG00000178104:ENST00000529945:exon9:c.G2168A:p.W723X,ENSG00000178104:ENST00000369349:exon13:c.G1679A:p.W560X,ENSG00000178104:ENST00000369351:exon13:c.G1679A:p.W560X,ENSG00000178104:ENST00000369354:exon13:c.G1679A:p.W560X,ENSG00000178104:ENST00000369356:exon13:c.G1679A:p.W560X,ENSG00000178104:ENST00000313382:exon16:c.G1877A:p.W626X,ENSG00000178104:ENST00000369359:exon16:c.G2090A:p.W697X,ENSG00000178104:ENST00000530740:exon16:c.G2090A:p.W697X Score=602;Name=lod=374 NA 1q21.1 NA NA NA NA rs1698683 0.27 0.27 0.214 NA NA NA NA NA NA 0.35 0.04 0.26 0.4 0.2947 0.4 0.16 T . . . . . . 1.000 D . . . . . . . . . 7.266 38 5.83 2.932 4.323 18.033 7.265646 7.265646 0.05 0.311685 0.339764 NA 0.188 NA 12.393615 416 2 120438515 120438515 G C exonic TMEM177 NA nonsynonymous SNV TMEM177:NM_001105198:exon2:c.G86C:p.G29A,TMEM177:NM_001105199:exon2:c.G86C:p.G29A,TMEM177:NM_030577:exon2:c.G86C:p.G29A exonic ENSG00000144120 NA nonsynonymous SNV ENSG00000144120:ENST00000272521:exon2:c.G86C:p.G29A,ENSG00000144120:ENST00000401466:exon2:c.G86C:p.G29A,ENSG00000144120:ENST00000409951:exon2:c.G86C:p.G29A,ENSG00000144120:ENST00000424086:exon2:c.G86C:p.G29A,ENSG00000144120:ENST00000445518:exon2:c.G86C:p.G29A Score=412;Name=lod=63 NA 2q14.2 NA NA NA NA rs11684353 0.15 0.15 0.166 0.139976 0.1511 0.119 0.134 0.1589 0.1288 0.15 0.14 0.16 0.17 0.1408 0.17 0.81 T 0.518 P 0.147 B 0.000 D 0.028 P 0.805 L 2.11 T -1.039 T 0.000 T 0.105 -0.307 2.536 3.95 2.509 3.461 9.915 -0.307404 NA 0.64 0.148605 0.172038 NA 0.13 NA 12.3928284 416 9 104449098 104449098 C T exonic GRIN3A NA nonsynonymous SNV GRIN3A:NM_133445:exon2:c.G1084A:p.V362M exonic ENSG00000198785 NA nonsynonymous SNV ENSG00000198785:ENST00000361820:exon2:c.G1084A:p.V362M Score=612;Name=lod=410 NA 9q31.1 NA NA NA NA rs10989591 0.3 0.3 0.314 0.319688 0.326 0.1081 0.2824 0.5295 0.274 0.32 0.12 0.28 0.49 0.3033 0.49 0.12 T 0.429 B 0.438 B 0.000 D 0.000 P 1.67 L -2.11 D -1.048 T 0.000 T 0.204 4.104 21.1 5.83 2.763 4.796 20.137 4.103988 4.103988 0.03 0.314302 0.47458 NA 0.275 NA 12.3897314 416 2 28821613 28821613 C T exonic PLB1 NA synonymous SNV PLB1:NM_001170585:exon34:c.C2427T:p.P809P,PLB1:NM_153021:exon35:c.C2460T:p.P820P exonic ENSG00000163803 NA synonymous SNV ENSG00000163803:ENST00000422425:exon34:c.C2427T:p.P809P,ENSG00000163803:ENST00000327757:exon35:c.C2460T:p.P820P Score=457;Name=lod=96 NA 2p23.2 Score=844;Name=V$HNF4_01 NA Name=2 NA rs35746006 0.06 0.06 0.048 0.0373403 0.1034 NA 0.062 0.0061 0.0327 0.11 NA 0.09 0.01 0.0706 0.11 0.06 T . . . . 0.001 D 0.000 P . . 1.92 T -1.077 T 0.001 T . 0.441 6.397 -3.04 -0.131 -1.888 1.069 0.441408 NA NA 0.106047 0.020427 ID=COSM1565603,COSM1565604;OCCURENCE=1(large_intestine) 0.007 NA 12.3866196 417 1 55136529 55136529 T C exonic MROH7 NA nonsynonymous SNV MROH7:NM_001039464:exon7:c.T1526C:p.V509A exonic ENSG00000184313,ENSG00000271723 NA nonsynonymous SNV ENSG00000184313:ENST00000409996:exon5:c.T230C:p.V77A,ENSG00000184313:ENST00000438846:exon5:c.T1526C:p.V509A,ENSG00000184313:ENST00000454855:exon5:c.T80C:p.V27A,ENSG00000184313:ENST00000545244:exon5:c.T230C:p.V77A,ENSG00000184313:ENST00000413188:exon6:c.T1526C:p.V509A,ENSG00000184313:ENST00000422659:exon6:c.T1526C:p.V509A,ENSG00000184313:ENST00000339553:exon7:c.T1526C:p.V509A,ENSG00000184313:ENST00000395690:exon7:c.T1526C:p.V509A,ENSG00000271723:ENST00000414150:exon7:c.T1526C:p.V509A,ENSG00000184313:ENST00000421030:exon7:c.T1526C:p.V509A,ENSG00000184313:ENST00000440047:exon7:c.T1526C:p.V509A,ENSG00000271723:ENST00000606515:exon7:c.T1526C:p.V509A,ENSG00000271723:ENST00000425300:exon8:c.T1601C:p.V534A Score=395;Name=lod=54 NA 1p32.3 NA NA NA NA rs480963 0.34 0.34 0.29 0.378994 0.2863 0.372 0.4669 0.267 0.5706 0.29 0.37 0.44 0.29 0.3769 0.44 0.15 T 0.999 D 0.962 D 0.010 N 0.000 P 1.79 L 3.42 T -0.863 T 0.000 T 0.335 2.988 15.96 5.08 1.931 3.724 11.296 2.98755 2.98755 0.24 0.285226 0.263048 NA 0.268 NA 12.3849074 417 20 9288522 9288522 G A exonic PLCB4 NA nonsynonymous SNV PLCB4:NM_000933:exon1:c.G61A:p.A21T,PLCB4:NM_182797:exon2:c.G61A:p.A21T,PLCB4:NM_001172646:exon3:c.G61A:p.A21T exonic ENSG00000101333 NA nonsynonymous SNV ENSG00000101333:ENST00000378493:exon1:c.G61A:p.A21T,ENSG00000101333:ENST00000378501:exon1:c.G61A:p.A21T,ENSG00000101333:ENST00000414679:exon1:c.G61A:p.A21T,ENSG00000101333:ENST00000278655:exon2:c.G61A:p.A21T,ENSG00000101333:ENST00000334005:exon3:c.G61A:p.A21T,ENSG00000101333:ENST00000378473:exon3:c.G61A:p.A21T,ENSG00000101333:ENST00000416836:exon3:c.G61A:p.A21T,ENSG00000101333:ENST00000441846:exon3:c.G61A:p.A21T,ENSG00000101333:ENST00000407043:exon4:c.G61A:p.A21T,ENSG00000101333:ENST00000437503:exon4:c.G61A:p.A21T Score=621;Name=lod=446 NA 20p12.2 NA NA NA NA rs6077510 0.48 0.48 0.474 0.471446 0.6819 0.4692 0.5922 0.1203 0.6462 0.66 0.47 0.59 0.15 0.5965 0.67 1 T 0.993 D 0.956 D 0.000 D 0.000 P 1.185 L 0.96 T -1.075 T 0.000 T 0.403 2.086 12.93 5.86 2.781 7.072 18.970 2.085975 2.085975 0.04 0.673144 0.211076 NA 0.507 NA 12.3817894 417 9 74332970 74332970 G A exonic TMEM2 NA nonsynonymous SNV TMEM2:NM_001135820:exon12:c.C2104T:p.P702S,TMEM2:NM_013390:exon13:c.C2293T:p.P765S exonic ENSG00000135048 NA nonsynonymous SNV ENSG00000135048:ENST00000377066:exon12:c.C2104T:p.P702S,ENSG00000135048:ENST00000377044:exon13:c.C2293T:p.P765S Score=510;Name=lod=157 NA 9q21.13 NA NA NA NA rs25692 0.12 0.12 0.082 0.112819 0.161 0.1458 0.1138 0.0068 0.1718 0.17 0.14 0.13 0.01 0.13 0.17 0.3 T 0.57 P 0.142 B 0.000 D 0.000 P 1.655 L 0.48 T -1.119 T 0.001 T 0.232 2.79 15.29 5.47 2.577 7.250 19.393 2.789688 2.789688 0.36 0.164884 0.039038 NA 0.058 NA 12.3774494 418 10 72307101 72307101 C T exonic PALD1 NA nonsynonymous SNV PALD1:NM_014431:exon18:c.C2161T:p.R721C exonic ENSG00000107719 NA nonsynonymous SNV ENSG00000107719:ENST00000263563:exon18:c.C2161T:p.R721C Score=346;Name=lod=34 NA 10q22.1 NA NA NA NA rs3740447 0.21 0.21 0.168 0.204073 0.1481 0.5079 0.1686 0.0151 0.229 0.14 0.47 0.17 0.02 0.1687 0.47 0 D 0.997 D 0.857 P 0.054 N 0.002 P 2.215 M 1.85 T -0.919 T 0.000 T 0.427 3.32 17.16 3.12 0.928 -0.056 6.620 3.319934 3.319934 0 0.141628 0.040626 NA 0.174 NA 12.3749054 418 21 38117308 38117308 C A exonic SIM2 NA nonsynonymous SNV SIM2:NM_005069:exon10:c.C1447A:p.L483M,SIM2:NM_009586:exon10:c.C1447A:p.L483M exonic ENSG00000159263 NA nonsynonymous SNV ENSG00000159263:ENST00000290399:exon10:c.C1447A:p.L483M,ENSG00000159263:ENST00000430056:exon10:c.C1447A:p.L483M Score=471;Name=lod=109 NA 21q22.13 NA NA Name=23 NA rs2073601 0.17 0.17 0.158 0.171925 0.326 0.0427 0.1729 0.0514 0.3088 0.33 0.04 0.2 0.07 0.2778 0.36 0.22 T 0.998 D 0.983 D 0.000 N 0.733 P 1.845 L 1.21 T -0.996 T 0.000 T 0.266 3.421 17.56 3.55 2.194 0.413 11.046 3.420969 3.420969 0.18 0.356047 0.095098 NA 0.094 NA 12.3734864 418 11 65386206 65386206 C G exonic PCNXL3 NA nonsynonymous SNV PCNXL3:NM_032223:exon6:c.C1373G:p.S458C exonic ENSG00000197136 NA nonsynonymous SNV ENSG00000197136:ENST00000355703:exon6:c.C1373G:p.S458C Score=512;Name=lod=161 NA 11q13.1 Score=871;Name=V$OLF1_01 NA NA NA rs1193851 0.26 0.26 0.262 0.23742 0.336 0.1329 0.245 0.3336 0.1084 0.34 0.12 0.26 0.3 0.2804 0.35 0.02 D 0.983 D 0.431 B 0.002 N 0.995 P 0.345 N 5.38 T -0.813 T 0.000 T 0.102 2.996 15.99 4.13 2.384 0.682 10.049 2.995718 2.995718 0.06 0.345459 0.329151 NA 0.239 NA 12.3714744 418 1 23847464 23847464 C A exonic E2F2 NA nonsynonymous SNV E2F2:NM_004091:exon4:c.G678T:p.Q226H exonic ENSG00000007968 NA nonsynonymous SNV ENSG00000007968:ENST00000361729:exon4:c.G678T:p.Q226H Score=472;Name=lod=111 NA 1p36.12 NA NA NA NA rs2075995 0.42 0.42 0.422 0.355232 0.5089 0.5992 0.4092 0.062 0.3037 0.52 0.64 0.38 0.07 0.4514 0.64 0.36 T 0.985 D 0.669 P 0.000 D 0.024 P 1.7 L -2.0 D -0.876 T 0.000 T 0.132 2.68 14.92 5.06 1.521 0.027 14.136 2.679578 2.679578 NA 0.502791 0.128007 NA 0.341 NA 12.3702424 418 6 32726803 32726803 C T exonic HLA-DQB2 NA nonsynonymous SNV HLA-DQB2:NM_001198858:exon3:c.G470A:p.R157Q exonic ENSG00000232629 NA nonsynonymous SNV ENSG00000232629:ENST00000411527:exon3:c.G470A:p.R157Q,ENSG00000232629:ENST00000435145:exon3:c.G470A:p.R157Q,ENSG00000232629:ENST00000437316:exon3:c.G470A:p.R157Q NA Name=IgG glycosylation 6p21.32 Score=824;Name=V$HNF4_01 NA NA NA rs1049110 NA NA 0.489 NA NA NA NA NA NA NA NA NA NA 0.4656 0.65 0.02 D 0.666 P 0.057 B 0.527 N 1.000 P 2.1 M 4.19 T -0.925 T 0.003 T 0.274 1.005 9.106 -2.23 -0.273 -0.503 4.658 1.005354 NA 0.09 NA NA NA 0.609 NA 12.3677334 419 16 81249927 81249927 C T exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon2:c.G386A:p.G129D exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon2:c.G386A:p.G129D,ENSG00000269323:ENST00000599697:exon2:c.G386A:p.G129D Score=340;Name=lod=32 NA 16q23.2 NA NA NA NA rs7185774 0.18 0.18 0.177 0.149361 0.3598 0.0089 0.2219 0.0598 0.1472 0.34 0.0035 0.29 0.06 0.2632 0.35 0.09 T 0.998 D 0.947 D 0.795 N 0.000 P . . 2.2 T -1.003 T 0.000 T 0.495 3.316 17.15 5.09 2.391 3.983 18.583 3.316419 3.316419 0.02 0.345524 0.115904 NA 0.174 NA 12.3648094 419 12 89916811 89916811 C T exonic GALNT4,POC1B-GALNT4 NA nonsynonymous SNV GALNT4:NM_003774:exon1:c.G1516A:p.V506I,POC1B-GALNT4:NM_001199781:exon3:c.G1507A:p.V503I,POC1B-GALNT4:NM_001199782:exon3:c.G1000A:p.V334I exonic ENSG00000257594,ENSG00000259075 NA nonsynonymous SNV ENSG00000257594:ENST00000529983:exon1:c.G1516A:p.V506I,ENSG00000259075:ENST00000413530:exon3:c.G1000A:p.V334I,ENSG00000259075:ENST00000548729:exon3:c.G1507A:p.V503I Score=284;Name=lod=19 NA 12q21.33 Score=898;Name=V$CEBP_01 NA NA NA rs2230283 0.24 0.24 0.23 0.205272 0.3529 0.1369 0.2435 0.1536 0.1667 0.36 0.15 0.23 0.18 0.2766 0.36 0.06 T 0.88 P 0.794 P . . 0.000 P 1.89 L 1.41 T -1.066 T 0.000 T 0.181 4.431 23.6 5.93 2.814 7.429 19.338 4.430637 4.430637 0.07 0.342857 0.17863 ID=COSM1128449;OCCURENCE=1(prostate) 0.261 NA 12.3609764 419 3 125854409 125854409 T C exonic ALDH1L1 NA nonsynonymous SNV ALDH1L1:NM_001270365:exon10:c.A1138G:p.S380G,ALDH1L1:NM_001270364:exon12:c.A1471G:p.S491G,ALDH1L1:NM_012190:exon12:c.A1441G:p.S481G exonic ENSG00000144908 NA nonsynonymous SNV ENSG00000144908:ENST00000452905:exon10:c.A1138G:p.S380G,ENSG00000144908:ENST00000273450:exon12:c.A1471G:p.S491G,ENSG00000144908:ENST00000393431:exon12:c.A1441G:p.S481G,ENSG00000144908:ENST00000393434:exon12:c.A1441G:p.S481G,ENSG00000144908:ENST00000472186:exon12:c.A1441G:p.S481G Score=510;Name=lod=157 NA 3q21.3 NA NA NA NA rs2276724 0.18 0.18 0.155 0.154353 0.167 0.2381 0.1499 0.1346 0.0849 0.17 0.23 0.17 0.12 0.1428 0.23 0.01 D 0.494 P 0.392 B 0.007 N 0.000 P 1.83 L 2.96 T -1.044 T 0.000 T 0.23 1.843 12.12 3.74 1.714 6.863 10.722 1.843443 1.843443 0.04 0.163256 0.130277 NA 0.087 NA 12.3602774 419 7 21628242 21628242 C G exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon11:c.C1961G:p.S654C exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000328843:exon11:c.C1961G:p.S654C,ENSG00000105877:ENST00000409508:exon11:c.C1961G:p.S654C Score=374;Name=lod=44 NA 7p15.3 NA NA NA NA rs62441683 0.09 0.09 0.082 0.0772764 0.1819 0.0308 0.1009 0.0038 0.1002 0.17 0.04 0.12 0.002 0.1251 0.17 0.07 T 0.958 D 0.67 P 0.104 N 0.876 P . . 0.42 T -1.012 T 0.001 T 0.339 0.132 4.709 3.67 1.553 2.449 1.782 0.131783 NA 0.08 0.16764 0.027034 NA 0.203 NA 12.3586934 420 1 159175527 159175527 G A exonic DARC NA nonsynonymous SNV DARC:NM_001122951:exon1:c.G304A:p.A102T,DARC:NM_002036:exon2:c.G298A:p.A100T exonic ENSG00000213088 NA nonsynonymous SNV ENSG00000213088:ENST00000368121:exon1:c.G304A:p.A102T,ENSG00000213088:ENST00000368122:exon2:c.G298A:p.A100T,ENSG00000213088:ENST00000435307:exon2:c.G304A:p.A102T,ENSG00000213088:ENST00000537147:exon3:c.G298A:p.A100T NA Name=IgE levels 1q23.2 Score=741;Name=V$SEF1_C NA NA NA rs13962 0.08 0.08 0.074 0.0688898 0.1839 NA 0.0937 0.0045 0.091 0.18 NA 0.1 0.002 0.1267 0.18 0.12 T 0.968 D 0.763 P 0.173 U 1.000 P 1.15 L 1.66 T -1.082 T 0.054 T 0.384 2.438 14.11 3.07 1.259 0.380 5.803 2.438188 2.438188 0.12 0.170581 0.031775 NA 0.029 NA 12.3521524 421 19 18329784 18329784 C T exonic PDE4C NA nonsynonymous SNV PDE4C:NM_001098818:exon9:c.G935A:p.R312Q,PDE4C:NM_001098819:exon9:c.G713A:p.R238Q,PDE4C:NM_000923:exon10:c.G1031A:p.R344Q exonic ENSG00000105650 NA nonsynonymous SNV ENSG00000105650:ENST00000539010:exon5:c.G338A:p.R113Q,ENSG00000105650:ENST00000262805:exon9:c.G935A:p.R312Q,ENSG00000105650:ENST00000447275:exon9:c.G713A:p.R238Q,ENSG00000105650:ENST00000594465:exon9:c.G1031A:p.R344Q,ENSG00000105650:ENST00000594617:exon10:c.G1031A:p.R344Q,ENSG00000105650:ENST00000355502:exon13:c.G1031A:p.R344Q Score=487;Name=lod=127 NA 19p13.11 NA NA NA NA rs2229228 0.26 0.26 0.25 0.209864 0.3638 0.1032 0.2493 0.1989 0.1483 0.38 0.1 0.27 0.23 0.2894 0.38 0.01 D 0.98 D 0.436 B 0.000 N 0.681 P 3.045 M -0.49 T -1.084 T 0.000 T 0.051 2.909 15.69 2.33 0.284 1.092 7.446 2.909073 2.909073 0.01 0.33686 0.225828 ID=COSM148535;OCCURENCE=1(stomach) 0.181 NA 12.3432734 421 3 124369744 124369744 C T exonic KALRN NA synonymous SNV KALRN:NM_007064:exon5:c.C660T:p.N220N,KALRN:NM_001024660:exon38:c.C5751T:p.N1917N exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000459915:exon2:c.C27T:p.N9N,ENSG00000160145:ENST00000428018:exon4:c.C564T:p.N188N,ENSG00000160145:ENST00000454902:exon4:c.C564T:p.N188N,ENSG00000160145:ENST00000291478:exon5:c.C660T:p.N220N,ENSG00000160145:ENST00000393496:exon5:c.C774T:p.N258N,ENSG00000160145:ENST00000360013:exon38:c.C5751T:p.N1917N Score=583;Name=lod=312 NA 3q21.2 NA Name=ELF1_(SC-631),NFKB,BCL3,PAX5-N19,Oct-2,EBF1_(C-8),TCF12,BATF,EBF,POU2F2,SP1,PU.1,Egr-1,BCL11A,MEF2A,Pol2-4H8 Name=9 NA rs12106716 0.09 0.09 0.088 0.0890575 0.1014 0.001 0.111 0.1339 0.091 0.09 NA 0.12 0.15 0.106 0.15 . . . . . . . . 0.000 P . . . . -1.049 T 0.002 T . -0.496 1.724 3.96 1.250 2.823 12.888 -0.495982 NA NA 0.12186 0.145937 NA 0.181 NA 12.3374066 421 6 136590698 136590698 C T exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon9:c.G2090A:p.R697H,BCLAF1:NM_001077441:exon9:c.G1577A:p.R526H,BCLAF1:NM_014739:exon9:c.G2096A:p.R699H exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon7:c.G2090A:p.R697H,ENSG00000029363:ENST00000353331:exon9:c.G2090A:p.R697H,ENSG00000029363:ENST00000527536:exon9:c.G2096A:p.R699H,ENSG00000029363:ENST00000527613:exon9:c.G2096A:p.R699H,ENSG00000029363:ENST00000527759:exon9:c.G2090A:p.R697H,ENSG00000029363:ENST00000529826:exon9:c.G2093A:p.R698H,ENSG00000029363:ENST00000530429:exon9:c.G2090A:p.R697H,ENSG00000029363:ENST00000530767:exon9:c.G1577A:p.R526H,ENSG00000029363:ENST00000531224:exon9:c.G2096A:p.R699H,ENSG00000029363:ENST00000532384:exon9:c.G2096A:p.R699H Score=825;Name=lod=3015 NA 6q23.3 NA NA NA NA rs62431287 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA 0.4978 NA 0.07 T 0.993 D 0.829 P 0.003 N 0.000 P 1.405 L 1.52 T -1.074 T 0.074 T 0.8 2.042 12.78 5.01 2.496 4.959 12.089 2.042067 2.042067 0.01 NA NA ID=COSM1579171;OCCURENCE=1(breast) NA NA 12.3355334 422 3 183976103 183976103 C T exonic ECE2 NA nonsynonymous SNV ECE2:NM_032331:exon3:c.C508T:p.R170W exonic ENSG00000145194 NA nonsynonymous SNV ENSG00000145194:ENST00000324557:exon3:c.C508T:p.R170W Score=535;Name=lod=200 NA 3q27.1 NA NA NA NA rs11546878 0.11 0.11 0.107 0.0884585 0.1799 0.0694 0.1138 0.0061 0.1074 0.19 0.07 0.13 0.01 0.1451 0.19 0.18 T 0.996 D 0.649 P . . 0.000 P . . -0.17 T -1.073 T 0.000 T 0.16 3.227 16.82 3.1 1.325 2.415 3.725 3.227219 3.227219 0.02 0.174651 0.035406 NA 0.072 NA 12.3336824 422 3 48669454 48669454 G C exonic SLC26A6 NA nonsynonymous SNV SLC26A6:NM_001040454:exon5:c.C546G:p.F182L,SLC26A6:NM_022911:exon6:c.C609G:p.F203L,SLC26A6:NM_134263:exon6:c.C609G:p.F203L,SLC26A6:NM_134426:exon6:c.C609G:p.F203L exonic ENSG00000225697 NA nonsynonymous SNV ENSG00000225697:ENST00000421649:exon2:c.C147G:p.F49L,ENSG00000225697:ENST00000444531:exon2:c.C117G:p.F39L,ENSG00000225697:ENST00000358747:exon5:c.C546G:p.F182L,ENSG00000225697:ENST00000426599:exon5:c.C505G:p.R169G,ENSG00000225697:ENST00000431739:exon5:c.C457G:p.R153G,ENSG00000225697:ENST00000455886:exon5:c.C505G:p.R169G,ENSG00000225697:ENST00000383733:exon6:c.C609G:p.F203L,ENSG00000225697:ENST00000395550:exon6:c.C609G:p.F203L,ENSG00000225697:ENST00000420764:exon6:c.C609G:p.F203L Score=534;Name=lod=197 NA 3p21.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1 T 0.36 B 0.119 B . . 1.000 D 0.395 N -2.71 D -0.432 T 0.508 D 0.203 2.937 15.79 -1.36 -0.230 -0.296 9.944 2.937282 2.937282 0.08 NA NA NA NA NA 12.3333334 422 5 79739010 79739010 A G exonic ZFYVE16 NA nonsynonymous SNV ZFYVE16:NM_014733:exon5:c.A2488G:p.T830A,ZFYVE16:NM_001105251:exon6:c.A2488G:p.T830A exonic ENSG00000039319 NA nonsynonymous SNV ENSG00000039319:ENST00000509558:exon1:c.A40G:p.T14A,ENSG00000039319:ENST00000338008:exon5:c.A2488G:p.T830A,ENSG00000039319:ENST00000505560:exon6:c.A2488G:p.T830A,ENSG00000039319:ENST00000510158:exon6:c.A2488G:p.T830A Score=422;Name=lod=69 NA 5q14.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22 T 0.0 B 0.0 B 0.101 N 0.993 N -1.01 N 1.23 T -1.047 T 0.029 T 0.052 -0.917 0.403 3.54 1.322 2.711 6.840 -0.917387 NA 0.45 NA NA NA NA NA 12.3333334 422 19 48343000 48343000 G A exonic CRX NA nonsynonymous SNV CRX:NM_000554:exon4:c.G676A:p.V226M exonic ENSG00000105392 NA nonsynonymous SNV ENSG00000105392:ENST00000221996:exon4:c.G676A:p.V226M,ENSG00000105392:ENST00000539067:exon4:c.G676A:p.V226M Score=450;Name=lod=90 NA 19q13.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16 T 0.026 B 0.017 B 0.050 N 1.000 N 0.69 N -2.03 D -0.769 T 0.328 T 0.135 2.765 15.21 2.04 0.415 3.937 4.446 2.765373 2.765373 0.13 NA NA ID=COSM439884;OCCURENCE=1(breast) NA NA 12.3333334 422 19 37619496 37619496 G C exonic ZNF420 NA nonsynonymous SNV ZNF420:NM_144689:exon5:c.G1603C:p.E535Q exonic ENSG00000197050 NA nonsynonymous SNV ENSG00000197050:ENST00000337995:exon5:c.G1603C:p.E535Q NA NA 19q13.12 NA Name=KAP1,ZNF274,SETDB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008241 NA . . 0.821 P 0.57 P . . 1.000 N 1.275 L 3.19 T -1.027 T 0.027 T 0.114 -0.695 0.987 2.01 0.980 0.447 9.288 -0.695326 NA 0.24 NA NA NA NA NA 12.3333252 422 10 131965213 131965213 A G exonic GLRX3 NA nonsynonymous SNV GLRX3:NM_001199868:exon6:c.A682G:p.I228V,GLRX3:NM_006541:exon6:c.A682G:p.I228V exonic ENSG00000108010 NA nonsynonymous SNV ENSG00000108010:ENST00000331244:exon6:c.A682G:p.I228V,ENSG00000108010:ENST00000368644:exon6:c.A682G:p.I228V,ENSG00000108010:ENST00000481034:exon6:c.A682G:p.I228V Score=549;Name=lod=227 NA 10q26.3 Score=827;Name=V$GR_Q6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008284 NA 0.5 T 0.002 B 0.002 B 0.002 N 0.742 N 0.015 N 3.2 T -0.975 T 0.011 T 0.111 -0.79 0.704 2.65 0.259 2.013 8.717 -0.789589 NA 0.74 NA NA NA NA NA 12.3333251 422 12 32490627 32490627 T C exonic BICD1 NA nonsynonymous SNV BICD1:NM_001003398:exon7:c.T2447C:p.I816T,BICD1:NM_001714:exon7:c.T2447C:p.I816T exonic ENSG00000151746 NA nonsynonymous SNV ENSG00000151746:ENST00000281474:exon7:c.T2447C:p.I816T,ENSG00000151746:ENST00000395758:exon7:c.T2447C:p.I816T,ENSG00000151746:ENST00000548411:exon7:c.T2447C:p.I816T Score=780;Name=lod=1975 NA 12p11.21 NA NA NA NA rs200867915 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004119 NA 0.48 T 0.008 B 0.007 B 0.001 N 1.000 D 0 N 1.01 T -1.071 T 0.052 T 0.462 -0.171 3.168 4.66 1.968 2.694 10.447 -0.170539 NA 0.83 NA NA NA NA NA 12.3332922 422 15 75131031 75131031 T C exonic ULK3 NA nonsynonymous SNV ULK3:NM_001099436:exon10:c.A1055G:p.N352S exonic ENSG00000140474 NA nonsynonymous SNV ENSG00000140474:ENST00000440863:exon10:c.A1055G:p.N352S,ENSG00000140474:ENST00000568667:exon10:c.A1088G:p.N363S,ENSG00000140474:ENST00000569437:exon10:c.A1055G:p.N352S Score=446;Name=lod=87 NA 15q24.1 Score=920;Name=V$HOXA3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005975 NA 0.39 T 0.017 B 0.007 B . . 0.815 D 1.085 L 2.06 T -1.034 T 0.033 T 0.073 2.008 12.67 1.63 0.022 2.325 5.607 2.008193 2.008193 0.23 NA NA ID=COSM1478352;OCCURENCE=1(breast) NA NA 12.3332736 422 20 33584521 33584521 G A exonic MYH7B NA nonsynonymous SNV MYH7B:NM_020884:exon30:c.G3352A:p.A1118T exonic ENSG00000078814 NA nonsynonymous SNV ENSG00000078814:ENST00000262873:exon28:c.G3352A:p.A1118T NA NA 20q11.22 NA NA Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 NA 0.01 D 0.425 B 0.237 B 0.438 N 1.000 N 0.69 N -1.66 D -0.690 T 0.310 T 0.062 1.258 10.1 2.09 0.375 0.109 1.085 1.258267 1.258267 0.02 NA NA NA NA NA 12.3330334 422 10 105104826 105104826 C T exonic PCGF6 NA nonsynonymous SNV PCGF6:NM_001011663:exon6:c.G737A:p.R246H exonic ENSG00000156374 NA nonsynonymous SNV ENSG00000156374:ENST00000369847:exon6:c.G737A:p.R246H Score=629;Name=lod=480 NA 10q24.33 Score=842;Name=V$IRF7_01 NA NA NA rs137910892 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0002 0.0006 0.47 T 0.002 B 0.001 B 0.001 N 1.000 D 0.59 N 1.38 T -1.098 T 0.054 T 0.234 2.458 14.18 3.84 0.763 4.684 11.892 2.457667 2.457667 0.32 0.000581 0 NA NA NA 12.3325524 422 10 102738626 102738626 G A exonic SEMA4G NA nonsynonymous SNV SEMA4G:NM_001203244:exon7:c.G664A:p.V222I,SEMA4G:NM_017893:exon7:c.G664A:p.V222I exonic ENSG00000095539 NA nonsynonymous SNV ENSG00000095539:ENST00000210633:exon7:c.G664A:p.V222I,ENSG00000095539:ENST00000370250:exon7:c.G664A:p.V222I,ENSG00000095539:ENST00000517724:exon7:c.G664A:p.V222I,ENSG00000095539:ENST00000519649:exon8:c.G664A:p.V222I,ENSG00000095539:ENST00000521006:exon8:c.G664A:p.V222I Score=440;Name=lod=82 NA 10q24.31 NA NA NA NA rs138710515 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0006 0.38 T 0.208 B 0.052 B 0.000 N 1.000 D 1.015 L 2.83 T -1.021 T 0.021 T 0.171 2.339 13.78 4.73 1.380 4.521 11.636 2.339296 2.339296 0.13 0.000581 0 NA NA NA 12.3324524 422 8 8749895 8749895 G A exonic MFHAS1 NA nonsynonymous SNV MFHAS1:NM_004225:exon1:c.C674T:p.A225V exonic ENSG00000147324 NA nonsynonymous SNV ENSG00000147324:ENST00000276282:exon1:c.C674T:p.A225V Score=452;Name=lod=92 NA 8p23.1 NA Name=Pol2 Name=113 NA rs140544252 0 0 NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0007 0.37 T 0.146 B 0.038 B 0.004 N 0.926 N 1.58 L 1.81 T -1.046 T 0.050 T 0.187 0.541 6.931 3.45 0.573 3.018 9.058 0.541412 NA 0.79 0.000698 0 NA NA NA 12.3313354 422 10 46999019 46999019 G A exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G139A:p.V47M exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.G139A:p.V47M,ENSG00000204175:ENST00000374317:exon3:c.G139A:p.V47M NA NA 10q11.22 NA NA NA NA rs3127819 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.502 0.5 0.1 T 1.0 D 0.882 P 0.019 N 1.000 N 1.995 M 3.27 T -1.062 T 0.000 T 0.374 3.977 20.4 5.43 2.723 2.595 15.109 3.977383 3.977383 0.15 NA NA ID=COSM1560779;OCCURENCE=1(large_intestine) 0.471 NA 12.3313334 422 12 108686280 108686280 G A exonic CMKLR1 NA nonsynonymous SNV CMKLR1:NM_001142344:exon3:c.C460T:p.R154C,CMKLR1:NM_001142345:exon3:c.C460T:p.R154C,CMKLR1:NM_004072:exon3:c.C454T:p.R152C,CMKLR1:NM_001142343:exon4:c.C460T:p.R154C exonic ENSG00000174600 NA nonsynonymous SNV ENSG00000174600:ENST00000312143:exon3:c.C460T:p.R154C,ENSG00000174600:ENST00000397688:exon3:c.C454T:p.R152C,ENSG00000174600:ENST00000412676:exon3:c.C460T:p.R154C,ENSG00000174600:ENST00000552995:exon3:c.C454T:p.R152C,ENSG00000174600:ENST00000550402:exon4:c.C460T:p.R154C NA NA 12q23.3 NA NA NA NA rs146650378 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0005 0.0013 0.01 D 0.947 P 0.567 P 0.007 N 0.998 N 1.91 M 0.95 T -0.900 T 0.147 T 0.675 0.755 8 2.29 0.163 1.409 14.505 0.755197 NA 0.02 0.000588 0 NA NA NA 12.3312454 422 1 110882499 110882499 T G exonic RBM15 NA nonsynonymous SNV RBM15:NM_001201545:exon1:c.T472G:p.S158A,RBM15:NM_022768:exon1:c.T472G:p.S158A exonic ENSG00000162775 NA nonsynonymous SNV ENSG00000162775:ENST00000369784:exon1:c.T472G:p.S158A,ENSG00000162775:ENST00000487146:exon1:c.T472G:p.S158A,ENSG00000162775:ENST00000602849:exon1:c.T472G:p.S158A Score=435;Name=lod=78 NA 1p13.3 NA Name=E2F6_(H-50),ELK4,Pol2,Egr-1,Sin3Ak-20,USF1_(SC-8983) Name=72 NA rs200933258 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0002 0.0028 0.59 T 0.039 B 0.013 B 0.001 N 0.969 N -0.345 N 0.9 T -0.959 T 0.014 T 0.17 0.918 8.735 2.79 0.954 0.908 6.709 0.917509 NA 0.78 NA NA NA NA NA 12.3311334 422 12 52962157 52962157 G A exonic KRT74 NA nonsynonymous SNV KRT74:NM_175053:exon7:c.C1151T:p.T384M exonic ENSG00000170484 NA nonsynonymous SNV ENSG00000170484:ENST00000305620:exon7:c.C1151T:p.T384M,ENSG00000170484:ENST00000549343:exon8:c.C1193T:p.T398M Score=371;Name=lod=43 NA 12q13.13 NA NA NA NA NA NA NA NA 0.000599042 0.002 0.001 NA NA NA NA NA NA NA 0.0003 NA 0.05 D 0.926 P 0.507 P 0.004 N 1.000 N 1.415 L -0.97 T -0.249 T 0.563 D 0.108 2.385 13.93 1.3 0.137 0.560 10.230 2.385147 2.385147 0.1 NA NA ID=COSM124031;OCCURENCE=1(upper_aerodigestive_tract) NA NA 12.3310334 422 18 47463727 47463727 G A exonic MYO5B NA nonsynonymous SNV MYO5B:NM_001080467:exon15:c.C1793T:p.P598L exonic ENSG00000167306 NA nonsynonymous SNV ENSG00000167306:ENST00000285039:exon15:c.C1793T:p.P598L NA NA 18q21.1 NA NA NA NA rs75107667 0.01 0.01 0.008 0.0091853 NA 0.001 0.0029 0.0325 NA NA 0.0035 0.0028 0.03 0.0023 0.03 0.08 T 0.002 B 0.014 B 0.531 N 0.824 D 0.435 N -3.62 D -0.408 T 0.460 T 0.031 1.509 11 4.39 1.229 3.859 12.897 1.509013 1.509013 0.14 0.00012 0.021378 NA 0.022 NA 12.3309134 422 7 45104131 45104131 G A exonic CCM2 NA nonsynonymous SNV CCM2:NM_001167934:exon3:c.G184A:p.V62I,CCM2:NM_001029835:exon4:c.G421A:p.V141I,CCM2:NM_001167935:exon4:c.G358A:p.V120I,CCM2:NM_031443:exon4:c.G358A:p.V120I exonic ENSG00000136280 NA nonsynonymous SNV ENSG00000136280:ENST00000541586:exon3:c.G184A:p.V62I,ENSG00000136280:ENST00000258781:exon4:c.G358A:p.V120I,ENSG00000136280:ENST00000381112:exon4:c.G421A:p.V141I,ENSG00000136280:ENST00000474617:exon4:c.G340A:p.V114I,ENSG00000136280:ENST00000475551:exon4:c.G340A:p.V114I,ENSG00000136280:ENST00000488727:exon4:c.G358A:p.V120I,ENSG00000136280:ENST00000544363:exon4:c.G358A:p.V120I Score=630;Name=lod=485 NA 7p13 Score=805;Name=V$ER_Q6 NA NA NA rs11552377 0.12 0.12 0.117 0.108027 0.174 0.1091 0.1671 0.0166 0.1207 0.17 0.09 0.18 0.02 0.1461 0.18 0.47 T 0.699 P 0.099 B 0.001 N 0.162 P 0.83 L 0.93 T -1.055 T 0.000 T 0.063 1.458 10.82 3.15 1.244 2.274 9.673 1.458249 1.458249 0.61 0.183953 0.039946 NA 0.051 NA 12.3292804 422 16 72831132 72831132 C A exonic ZFHX3 NA nonsynonymous SNV ZFHX3:NM_001164766:exon8:c.G2707T:p.V903L,ZFHX3:NM_006885:exon9:c.G5449T:p.V1817L exonic ENSG00000140836 NA nonsynonymous SNV ENSG00000140836:ENST00000397992:exon8:c.G2707T:p.V903L,ENSG00000140836:ENST00000268489:exon9:c.G5449T:p.V1817L Score=343;Name=lod=33 NA 16q22.2 NA NA NA NA rs148334947 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0009 0.0026 0.71 T 0.002 B 0.002 B 0.000 D 0.798 N 0.345 N -0.7 T -0.966 T 0.172 T 0.167 0.787 8.149 6.03 2.854 2.503 15.258 0.786921 NA NA 0.001512 0.000227 NA NA NA 12.3289214 422 12 39724052 39724052 A G exonic KIF21A NA nonsynonymous SNV KIF21A:NM_001173465:exon22:c.T3224C:p.V1075A,KIF21A:NM_017641:exon23:c.T3293C:p.V1098A,KIF21A:NM_001173464:exon24:c.T3332C:p.V1111A exonic ENSG00000139116 NA nonsynonymous SNV ENSG00000139116:ENST00000551066:exon4:c.T395C:p.V132A,ENSG00000139116:ENST00000541463:exon22:c.T3224C:p.V1075A,ENSG00000139116:ENST00000361961:exon23:c.T3293C:p.V1098A,ENSG00000139116:ENST00000361418:exon24:c.T3332C:p.V1111A Score=623;Name=lod=454 NA 12q12 NA NA NA NA rs150294289 0.0027 0.0027 NA 0.00139776 0.004 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0011 0.01 0.78 T 0.0 B 0.002 B . . 1.000 D 0 N -0.38 T -1.059 T 0.067 T 0.2 1.483 10.91 4.82 1.089 4.647 11.237 1.482908 1.482908 0.36 0.001628 0.000681 NA NA NA 12.3266054 422 17 5087054 5087054 T G exonic ZNF594 NA nonsynonymous SNV ZNF594:NM_032530:exon2:c.A498C:p.Q166H exonic ENSG00000180626 NA nonsynonymous SNV ENSG00000180626:ENST00000399604:exon1:c.A498C:p.Q166H,ENSG00000180626:ENST00000575779:exon2:c.A498C:p.Q166H Score=376;Name=lod=45 NA 17p13.2 NA Name=ZNF274 NA NA rs59197486 0.02 0.02 0.026 0.0259585 NA NA 0.0029 0.0968 NA NA NA 0.0028 0.09 0.0072 0.09 0.29 T 1.0 D 0.919 D . . 1.000 N 0.775 N 1.27 T -1.079 T 0.005 T 0.199 -0.748 0.822 -1.34 -0.203 -5.229 7.134 -0.748155 NA 0.35 0.000238 0.071895 NA 0.043 NA 12.3258954 422 10 95931011 95931011 A G exonic PLCE1 NA nonsynonymous SNV PLCE1:NM_001165979:exon3:c.A643G:p.I215V,PLCE1:NM_016341:exon4:c.A1567G:p.I523V exonic ENSG00000138193 NA nonsynonymous SNV ENSG00000138193:ENST00000371375:exon3:c.A643G:p.I215V,ENSG00000138193:ENST00000371380:exon3:c.A1567G:p.I523V,ENSG00000138193:ENST00000371385:exon3:c.A643G:p.I215V,ENSG00000138193:ENST00000260766:exon4:c.A1567G:p.I523V Score=497;Name=lod=140 NA 10q23.33 Score=949;Name=V$CDPCR3HD_01 NA NA NA rs61751494 NA NA NA 0.000798722 0.003 NA 0.0014 NA NA NA NA NA NA 0.0016 0.0035 0.44 T 0.006 B 0.004 B 0.001 D 0.930 N 0.46 N 1.45 T -1.047 T 0.038 T 0.089 0.552 6.986 5.71 2.172 0.905 5.729 0.55195 NA 0.15 0.003481 0.000249 NA NA NA 12.3252524 423 17 5462215 5462215 T A exonic NLRP1 NA nonsynonymous SNV NLRP1:NM_001033053:exon4:c.A1801T:p.I601F,NLRP1:NM_014922:exon4:c.A1801T:p.I601F,NLRP1:NM_033004:exon4:c.A1801T:p.I601F,NLRP1:NM_033006:exon4:c.A1801T:p.I601F,NLRP1:NM_033007:exon4:c.A1801T:p.I601F exonic ENSG00000091592 NA nonsynonymous SNV ENSG00000091592:ENST00000262467:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000345221:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000354411:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000544378:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000571451:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000572272:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000577119:exon4:c.A1801T:p.I601F,ENSG00000091592:ENST00000269280:exon5:c.A1801T:p.I601F NA NA 17p13.2 NA NA NA NA rs73973843 0.02 0.02 0.024 0.0299521 NA NA 0.0043 0.1112 NA NA NA 0.01 0.11 0.0081 0.11 0 D 0.997 D 0.967 D 0.135 N 1.000 P 2.145 M -0.48 T -0.771 T 0.017 T 0.605 2.679 14.92 2.13 0.841 -0.077 5.318 2.678747 2.678747 0.04 0.000465 0.078983 NA 0.072 NA 12.3247684 423 3 124456742 124456742 G C exonic UMPS NA nonsynonymous SNV UMPS:NM_000373:exon3:c.G638C:p.G213A exonic ENSG00000114491 NA nonsynonymous SNV ENSG00000114491:ENST00000413078:exon2:c.G104C:p.G35A,ENSG00000114491:ENST00000538242:exon2:c.G104C:p.G35A,ENSG00000114491:ENST00000232607:exon3:c.G638C:p.G213A,ENSG00000114491:ENST00000479719:exon3:c.G638C:p.G213A,ENSG00000114491:ENST00000536109:exon4:c.G362C:p.G121A Score=259;Name=lod=15 NA 3q21.2 Score=856;Name=V$FOXJ2_02 NA NA NA rs1801019 0.17 0.17 0.162 0.185903 0.1491 0.1677 0.2622 0.152 0.2342 0.14 0.19 0.24 0.15 0.1888 0.24 0.75 T 0.91 P 0.388 B 0.000 D 0.003 P 1.675 L 0.59 T -1.035 T 0.000 T 0.176 -0.127 3.378 2.95 0.503 3.284 9.664 -0.126888 NA 0.16 0.17093 0.154562 NA 0.174 NA 12.3245034 423 17 2203175 2203175 C G exonic SMG6 NA nonsynonymous SNV SMG6:NM_017575:exon2:c.G872C:p.R291P exonic ENSG00000070366 NA nonsynonymous SNV ENSG00000070366:ENST00000263073:exon2:c.G872C:p.R291P,ENSG00000070366:ENST00000544865:exon2:c.G779C:p.R260P Score=346;Name=lod=34 NA 17p13.3 NA NA NA NA rs1885986 0.23 0.23 0.201 0.184704 0.3569 0.0893 0.4222 0.0318 0.1442 0.34 0.13 0.43 0.04 0.2929 0.43 0.06 T 0.998 D 0.921 D 0.004 N 0.000 P 0.895 L 2.89 T -0.817 T 0.000 T 0.777 2.872 15.57 5.35 2.490 3.931 19.057 2.871802 2.871802 0 0.359419 0.072855 NA 0.232 NA 12.3241144 423 16 4033436 4033436 T C exonic ADCY9 NA nonsynonymous SNV ADCY9:NM_001116:exon7:c.A2316G:p.I772M exonic ENSG00000162104 NA nonsynonymous SNV ENSG00000162104:ENST00000294016:exon7:c.A2316G:p.I772M NA NA 16p13.3 Score=786;Name=V$ER_Q6 Name=NRSF NA NA rs2230739 0.28 0.28 0.275 0.260383 0.341 0.3819 0.2334 0.1172 0.2648 0.32 0.4 0.25 0.1 0.3572 0.4 0.45 T 0.001 B 0.001 B 0.086 N 1.000 P 0.205 N -1.61 D -1.058 T 0.000 T 0.12 0.514 6.786 -7.94 -1.914 -1.685 11.379 0.513906 NA 0.25 0.312558 0.147701 ID=COSM1162178;OCCURENCE=1(pancreas) 0.333 NA 12.3225754 423 20 31812206 31812206 A G exonic BPIFA3 NA nonsynonymous SNV BPIFA3:NM_178466:exon3:c.A324G:p.I108M exonic ENSG00000131059 NA nonsynonymous SNV ENSG00000131059:ENST00000375454:exon3:c.A324G:p.I108M Score=235;Name=lod=12 NA 20q11.21 Score=838;Name=V$HAND1E47_01 NA NA NA rs112731808 0.03 0.03 0.023 0.0197684 0.004 0.0308 0.0072 0.0446 NA 0.01 0.03 0.01 0.06 0.0075 0.087 0.27 T 0.0 B 0.001 B 0.017 N 0.996 D -0.975 N 3.52 T -0.821 T 0.001 T 0.029 -2.099 0.006 3.41 0.804 1.446 7.016 -2.099179 NA 0.95 0.001512 0.042442 NA 0.058 NA 12.3203214 423 4 5620263 5620263 G A exonic EVC2 NA nonsynonymous SNV EVC2:NM_001166136:exon15:c.C2408T:p.A803V,EVC2:NM_147127:exon15:c.C2648T:p.A883V exonic ENSG00000173040 NA nonsynonymous SNV ENSG00000173040:ENST00000310917:exon15:c.C2408T:p.A803V,ENSG00000173040:ENST00000344408:exon15:c.C2648T:p.A883V,ENSG00000173040:ENST00000344938:exon15:c.C2648T:p.A883V,ENSG00000173040:ENST00000475313:exon15:c.C2408T:p.A803V NA NA 4p16.2 NA NA NA NA rs140951974 0.0027 0.0027 NA 0.00179712 0.006 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.004 0.01 0.21 T 0.97 D 0.265 B 0.000 D 1.000 N 0.695 N -1.04 T -0.822 T 0.168 T 0.311 2.833 15.44 4.37 2.488 1.943 9.876 2.832975 2.832975 0.05 0.003953 0.000227 NA NA NA 12.3193804 423 2 233243981 233243981 A T exonic ALPP NA nonsynonymous SNV ALPP:NM_001632:exon3:c.A265T:p.I89L exonic ENSG00000163283 NA nonsynonymous SNV ENSG00000163283:ENST00000392027:exon3:c.A265T:p.I89L Score=317;Name=lod=26 NA 2q37.1 Score=683;Name=V$P53_01 Name=NRSF NA NA rs13026692 0.37 0.37 0.327 0.388778 0.337 0.5377 0.4611 0.2496 0.4254 0.34 0.53 0.42 0.22 0.3619 0.53 0.02 D 0.0 B 0.001 B 0.002 N 1.000 P -0.695 N -3.79 D -0.912 T 0.000 T 0.03 1.782 11.92 -0.159 -0.152 2.236 4.362 1.781661 1.781661 0 0.315581 0.268724 ID=COSM1162692;OCCURENCE=1(pancreas) 0.333 NA 12.3188524 423 17 5085637 5085637 G A exonic ZNF594 NA nonsynonymous SNV ZNF594:NM_032530:exon2:c.C1915T:p.L639F exonic ENSG00000180626 NA nonsynonymous SNV ENSG00000180626:ENST00000399604:exon1:c.C1915T:p.L639F,ENSG00000180626:ENST00000575779:exon2:c.C1915T:p.L639F NA NA 17p13.2 NA Name=SETDB1,KAP1 NA NA rs189770499 0.0023 0.0023 NA 0.00239617 0.004 NA 0.0029 NA 0.0061 0.004 NA 0.01 NA 0.0048 0.01 0.05 D 1.0 D 0.996 D . . 1.000 N 2.325 M 0.68 T -0.924 T 0.180 T 0.123 1.264 10.12 -0.665 0.034 0.296 5.464 1.26438 1.26438 0.04 0.006534 0.001159 NA NA NA 12.3179994 423 10 119043458 119043458 T G exonic PDZD8 NA nonsynonymous SNV PDZD8:NM_173791:exon5:c.A2786C:p.N929T exonic ENSG00000165650 NA nonsynonymous SNV ENSG00000165650:ENST00000334464:exon5:c.A2786C:p.N929T NA NA 10q25.3 Score=810;Name=V$PBX1_02 NA NA NA rs140922572 0.0014 0.0014 0.001 0.000798722 0.004 NA NA NA NA 0.004 NA NA NA 0.0052 0.0067 0.37 T 0.132 B 0.051 B 0.001 N 0.975 N 0.805 L -2.03 D -0.798 T 0.278 T 0.065 -0.23 2.889 3.17 1.011 2.484 8.570 -0.230091 NA 0.36 0.006744 0.00227 NA NA NA 12.3173894 424 4 8605860 8605860 C A exonic CPZ NA nonsynonymous SNV CPZ:NM_003652:exon3:c.C621A:p.D207E,CPZ:NM_001014447:exon4:c.C654A:p.D218E,CPZ:NM_001014448:exon4:c.C243A:p.D81E exonic ENSG00000109625 NA nonsynonymous SNV ENSG00000109625:ENST00000315782:exon3:c.C621A:p.D207E,ENSG00000109625:ENST00000360986:exon4:c.C654A:p.D218E,ENSG00000109625:ENST00000382480:exon4:c.C243A:p.D81E Score=581;Name=lod=307 NA 4p16.1 NA Name=E2F6_(H-50) NA NA rs28421391 NA NA NA 0.00359425 0.0109 NA 0.0043 0.0008 0.0031 NA NA NA NA 0.0113 NA 1 T 0.001 B 0.002 B 0.031 N 1.000 D -2.56 N 3.38 T -0.937 T 0.002 T 0.109 -0.153 3.251 -3.98 -0.863 -0.989 0.154 -0.153244 NA 1 NA NA ID=COSM1670900;OCCURENCE=1(kidney) 0.014 NA 12.3111334 424 2 148716428 148716428 T C exonic ORC4 NA nonsynonymous SNV ORC4:NM_001190882:exon4:c.A11G:p.N4S,ORC4:NM_002552:exon5:c.A233G:p.N78S,ORC4:NM_181741:exon5:c.A233G:p.N78S,ORC4:NM_181742:exon5:c.A233G:p.N78S,ORC4:NM_001190879:exon6:c.A233G:p.N78S exonic ENSG00000115947 NA nonsynonymous SNV ENSG00000115947:ENST00000540442:exon4:c.A11G:p.N4S,ENSG00000115947:ENST00000264169:exon5:c.A233G:p.N78S,ENSG00000115947:ENST00000392857:exon5:c.A233G:p.N78S,ENSG00000115947:ENST00000392858:exon5:c.A233G:p.N78S,ENSG00000115947:ENST00000416719:exon5:c.A233G:p.N78S,ENSG00000115947:ENST00000440042:exon5:c.A233G:p.N78S,ENSG00000115947:ENST00000457954:exon6:c.A233G:p.N78S,ENSG00000115947:ENST00000535373:exon6:c.A233G:p.N78S Score=556;Name=lod=243 Name=Urate levels 2q23.1 Score=851;Name=V$POU6F1_01 NA NA NA rs2307394 0.39 0.39 0.362 0.355831 0.325 0.4762 0.4611 0.2859 0.2832 0.35 0.48 0.44 0.3 0.3865 0.48 0.46 T 0.082 B 0.033 B 0.028 N 0.000 P 0.935 L 0.45 T -0.953 T 0.000 T 0.134 2.286 13.6 5.48 2.069 2.450 9.147 2.286415 2.286415 0.14 0.31285 0.30871 NA 0.471 NA 12.3089834 424 3 41877414 41877414 T C exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon18:c.A1706G:p.K569R exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon18:c.A1706G:p.K569R Score=586;Name=lod=322 Name=Blood pressure 3p22.1 NA NA NA NA rs3774372 0.18 0.18 0.167 0.172724 0.1849 0.1458 0.1369 0.1974 0.18 0.2 0.15 0.14 0.21 0.1714 0.22 0.57 T 0.78 P 0.288 B 0.000 U 0.000 P 1.01 L -0.1 T -1.069 T 0.000 T 0.298 2.4 13.98 5.48 2.204 4.095 14.100 2.400184 2.400184 0.34 0.168301 0.208833 NA 0.203 NA 12.3087324 424 19 15760883 15760883 G A exonic CYP4F3 NA nonsynonymous SNV CYP4F3:NM_000896:exon7:c.G808A:p.V270I,CYP4F3:NM_001199208:exon7:c.G808A:p.V270I,CYP4F3:NM_001199209:exon7:c.G808A:p.V270I exonic ENSG00000186529 NA nonsynonymous SNV ENSG00000186529:ENST00000585846:exon6:c.G808A:p.V270I,ENSG00000186529:ENST00000221307:exon7:c.G808A:p.V270I,ENSG00000186529:ENST00000586182:exon7:c.G808A:p.V270I,ENSG00000186529:ENST00000591058:exon7:c.G808A:p.V270I Score=295;Name=lod=21 NA 19p13.12 Score=933;Name=V$TCF11_01 NA NA NA rs28371536 0.0032 0.0032 0.003 0.00299521 0.0099 NA 0.0043 NA 0.002 0.01 NA NA NA 0.0063 0.01 0.07 T 0.05 B 0.19 B 0.004 U 0.971 D 0.395 N -0.34 T -0.899 T 0.131 T 0.126 1.854 12.16 2.94 0.667 4.257 9.454 1.853745 1.853745 0.07 0.009302 0.001135 NA NA NA 12.3078314 425 1 12342990 12342990 G A exonic VPS13D NA nonsynonymous SNV VPS13D:NM_015378:exon21:c.G4831A:p.E1611K,VPS13D:NM_018156:exon21:c.G4831A:p.E1611K exonic ENSG00000048707 NA nonsynonymous SNV ENSG00000048707:ENST00000356315:exon21:c.G4831A:p.E1611K,ENSG00000048707:ENST00000358136:exon21:c.G4831A:p.E1611K Score=349;Name=lod=35 NA 1p36.22 NA NA NA NA rs41279452 0.0041 0.0041 0.004 0.00219649 0.008 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0092 0.012 0.33 T 0.4 B 0.121 B 0.004 N 1.000 D 0.345 N 0.59 T -1.051 T 0.069 T 0.328 2.65 14.82 5.82 2.756 3.743 15.560 2.649755 2.649755 0.05 0.012209 0.00227 NA 0.007 NA 12.3039244 425 17 74075984 74075984 C T exonic ZACN NA nonsynonymous SNV ZACN:NM_180990:exon4:c.C283T:p.R95C exonic ENSG00000186919 NA nonsynonymous SNV ENSG00000186919:ENST00000334586:exon4:c.C283T:p.R95C,ENSG00000186919:ENST00000425015:exon4:c.C283T:p.R95C NA NA 17q25.1 NA Name=FOSL2,CTCF,Pol2 Name=24 NA rs113860382 0.0041 0.0041 0.005 0.00259585 0.0119 NA 0.0014 NA NA 0.01 NA NA NA 0.0101 0.01 0 D 0.155 B 0.033 B 0.242 N 1.000 N 2.015 M -1.6 D -0.563 T 0.316 T 0.473 1.759 11.84 1.88 0.899 0.331 2.786 1.759335 1.759335 0.02 0.00814 0.001362 NA NA NA 12.3031934 425 19 53268990 53268990 C G exonic ZNF600 NA nonsynonymous SNV ZNF600:NM_198457:exon3:c.G2019C:p.K673N exonic ENSG00000189190 NA nonsynonymous SNV ENSG00000189190:ENST00000338230:exon3:c.G2019C:p.K673N NA NA 19q13.41 NA NA NA NA rs117125329 0.0041 0.0041 0.002 0.00299521 0.0139 NA 0.0014 NA NA 0.01 NA NA NA 0.0063 0.01 0 D 1.0 D 0.995 D . . 1.000 N 2.77 M 3.15 T -1.094 T 0.046 T 0.034 1.549 11.13 0.575 0.072 -1.409 4.988 1.549407 1.549407 0 0.010116 0.00227 NA NA NA 12.3030174 425 14 64564680 64564680 G A exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon62:c.G12122A:p.R4041H,SYNE2:NM_182914:exon62:c.G12122A:p.R4041H exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000394768:exon10:c.G1277A:p.R426H,ENSG00000054654:ENST00000555002:exon13:c.G2024A:p.R675H,ENSG00000054654:ENST00000344113:exon62:c.G12122A:p.R4041H,ENSG00000054654:ENST00000358025:exon62:c.G12122A:p.R4041H,ENSG00000054654:ENST00000554584:exon62:c.G12221A:p.R4074H,ENSG00000054654:ENST00000357395:exon63:c.G1277A:p.R426H NA NA 14q23.2 NA NA NA NA rs17101661 0.01 0.01 0.008 0.0105831 0.004 NA 0.0086 0.031 0.002 0.01 NA 0.02 0.03 0.012 0.03 0.12 T 0.958 D 0.278 B 0.044 N 1.000 N 0.345 N 4.11 T -0.942 T 0.029 T 0.096 2.11 13.01 -6.11 -1.796 -3.312 8.328 2.109711 2.109711 0.35 0.016163 0.023831 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118505.2;CLNDSDB=.;CLNDSDBID=. 12.3011704 425 7 150747896 150747896 C T exonic ASIC3 NA nonsynonymous SNV ASIC3:NM_004769:exon4:c.C865T:p.P289S,ASIC3:NM_020321:exon4:c.C865T:p.P289S,ASIC3:NM_020322:exon4:c.C865T:p.P289S exonic ENSG00000213199 NA nonsynonymous SNV ENSG00000213199:ENST00000297512:exon4:c.C865T:p.P289S,ENSG00000213199:ENST00000349064:exon4:c.C865T:p.P289S,ENSG00000213199:ENST00000357922:exon4:c.C865T:p.P289S,ENSG00000213199:ENST00000377904:exon4:c.C865T:p.P289S,ENSG00000213199:ENST00000468325:exon4:c.C865T:p.P289S Score=363;Name=lod=40 NA 7q36.1 NA NA NA NA rs114024820 0.01 0.01 NA 0.00379393 0.0109 NA 0.0043 NA 0.0051 0.01 NA 0.01 NA 0.009 0.014 0.51 T 0.058 B 0.043 B 0.758 U 0.942 D 0.55 N -0.07 T -0.998 T 0.119 T 0.386 0.132 4.709 5.06 2.501 1.103 16.296 0.131841 NA 0.33 0.014422 0.001362 NA 0.007 NA 12.2990114 425 4 169362557 169362557 C G exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon10:c.G1225C:p.V409L exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000505863:exon4:c.G409C:p.V137L,ENSG00000181381:ENST00000260184:exon10:c.G1225C:p.V409L,ENSG00000181381:ENST00000505890:exon10:c.G1225C:p.V409L,ENSG00000181381:ENST00000511577:exon10:c.G1225C:p.V409L Score=251;Name=lod=14 NA 4q32.3 NA NA Name=22 NA rs13151700 0.37 0.37 0.35 0.334265 0.3439 0.6141 0.5159 0.0469 0.2955 0.34 0.64 0.47 0.05 0.3579 0.64 0.74 T 0.378 B 0.065 B 0.121 U 0.999 P 2.015 M 2.86 T -1.026 T 0.000 T 0.248 1.575 11.22 3.1 1.411 3.471 9.976 1.574833 1.574833 0.14 0.332598 0.095954 NA 0.29 NA 12.2989354 426 11 116693871 116693871 C T exonic APOA4 NA nonsynonymous SNV APOA4:NM_000482:exon1:c.G37A:p.V13M exonic ENSG00000110244 NA nonsynonymous SNV ENSG00000110244:ENST00000357780:exon1:c.G37A:p.V13M Score=477;Name=lod=116 NA 11q23.3 NA NA NA NA rs12721041 0.01 0.01 0.005 0.00299521 0.0129 NA 0.0014 NA 0.001 0.01 NA 0.01 NA 0.01 0.017 0.01 D 0.241 B 0.284 B 0.171 N 0.999 N 2.62 M -1.07 T -0.441 T 0.314 T 0.197 2.287 13.6 3.39 1.383 0.411 10.192 2.286795 2.286795 0.01 0.016775 0.002726 NA NA NA 12.2936584 426 2 179393859 179393859 A G exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon188:c.T79424C:p.I26475T,TTN:NM_133432:exon189:c.T79799C:p.I26600T,TTN:NM_133437:exon189:c.T80000C:p.I26667T,TTN:NM_133378:exon309:c.T98915C:p.I32972T,TTN:NM_001256850:exon310:c.T101696C:p.I33899T,TTN:NM_001267550:exon360:c.T106619C:p.I35540T exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000460472:exon188:c.T79424C:p.I26475T,ENSG00000155657:ENST00000342175:exon189:c.T80000C:p.I26667T,ENSG00000155657:ENST00000359218:exon189:c.T79799C:p.I26600T,ENSG00000155657:ENST00000342992:exon309:c.T98915C:p.I32972T,ENSG00000155657:ENST00000591111:exon310:c.T101696C:p.I33899T,ENSG00000155657:ENST00000589042:exon360:c.T106619C:p.I35540T Score=391;Name=lod=52 NA 2q31.2 Score=823;Name=V$NFKB_Q6 NA NA NA rs55880440 0.01 0.01 0.009 0.00459265 0.0109 NA 0.0144 NA 0.002 0.02 NA 0.02 NA 0.0142 0.02 0 D 0.0 B 0.0 B . . 1.000 N 0.55 N 0.13 T -0.981 T 0.081 T 0.516 1.983 12.59 1.63 0.412 1.884 6.346 1.983058 1.983058 NA 0.017835 0.004137 NA 0.007 CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040979.3|RCV000126003.1;CLNDSDB=.|.;CLNDSDBID=.|. 12.2903984 426 12 125467158 125467158 C T exonic DHX37 NA nonsynonymous SNV DHX37:NM_032656:exon3:c.G288A:p.M96I exonic ENSG00000150990 NA nonsynonymous SNV ENSG00000150990:ENST00000308736:exon3:c.G288A:p.M96I Score=440;Name=lod=82 NA 12q24.31 NA NA NA NA rs11558556 0.37 0.37 0.371 0.374002 0.339 0.4147 0.2507 0.4123 0.4039 0.35 0.41 0.27 0.42 0.3608 0.45 0.05 D 0.0 B 0.0 B 0.001 D 0.000 P 1.265 L 2.89 T -0.915 T 0.000 T 0.04 1.859 12.17 4.05 2.382 1.912 13.481 1.858647 1.858647 0.13 0.347093 0.392646 NA 0.348 NA 12.2864404 426 20 52573971 52573971 T G exonic BCAS1 NA nonsynonymous SNV BCAS1:NM_003657:exon10:c.A1416C:p.Q472H exonic ENSG00000064787 NA nonsynonymous SNV ENSG00000064787:ENST00000395961:exon10:c.A1416C:p.Q472H Score=387;Name=lod=50 NA 20q13.2 Score=785;Name=V$MIF1_01 NA Name=77 NA rs35575210 0.13 0.13 0.109 0.132188 0.1899 0.1429 0.1354 0.0265 0.2025 0.19 0.12 0.16 0.02 0.1658 0.19 . . 0.496 P 0.178 B . . 0.000 P 1.795 L 2.01 T -1.025 T 0.000 T 0.2 3.718 18.88 4.43 0.908 1.178 6.56 3.717957 3.717957 0.01 0.191279 0.046527 NA 0.094 NA 12.2863544 427 8 95541459 95541459 A C exonic KIAA1429 NA nonsynonymous SNV KIAA1429:NM_015496:exon7:c.T719G:p.V240G,KIAA1429:NM_183009:exon7:c.T719G:p.V240G exonic ENSG00000164944 NA nonsynonymous SNV ENSG00000164944:ENST00000297591:exon7:c.T719G:p.V240G,ENSG00000164944:ENST00000421249:exon7:c.T719G:p.V240G,ENSG00000164944:ENST00000437199:exon7:c.T719G:p.V240G Score=682;Name=lod=790 NA 8q22.1 NA NA NA NA rs76706433 0.01 0.01 0.007 0.0091853 0.0348 NA 0.0144 NA 0.001 0.02 NA 0.02 NA 0.0106 0.02 0.06 T 0.001 B 0.002 B 0.011 N 1.000 D 0.55 N 0.72 T -1.082 T 0.045 T 0.204 2.16 13.18 5.23 2.098 3.497 11.147 2.15982 2.15982 0.34 0.014535 0.002724 NA NA NA 12.2733984 427 19 17922666 17922666 G A exonic B3GNT3 NA nonsynonymous SNV B3GNT3:NM_014256:exon3:c.G854A:p.R285H exonic ENSG00000179913 NA nonsynonymous SNV ENSG00000179913:ENST00000318683:exon3:c.G854A:p.R285H,ENSG00000179913:ENST00000595387:exon3:c.G854A:p.R285H Score=343;Name=lod=33 NA 19p13.11 Score=772;Name=V$PAX5_01 NA NA NA rs77134098 0.02 0.02 0.013 0.0109824 0.0278 0.001 0.0173 0.0076 0.0041 0.03 0.0017 0.02 0.01 0.0144 0.033 0.27 T 0.026 B 0.016 B 0.006 N 0.887 D 1.69 L 0.96 T -1.033 T 0.037 T 0.126 0.406 6.204 5.23 2.452 0.363 9.841 0.405851 NA 0.39 0.019651 0.014526 NA 0.022 NA 12.2714824 427 15 42032383 42032383 C G exonic MGA NA nonsynonymous SNV MGA:NM_001080541:exon14:c.C4567G:p.P1523A,MGA:NM_001164273:exon14:c.C4567G:p.P1523A exonic ENSG00000174197 NA nonsynonymous SNV ENSG00000174197:ENST00000566586:exon13:c.C4567G:p.P1523A,ENSG00000174197:ENST00000570161:exon13:c.C4567G:p.P1523A,ENSG00000174197:ENST00000219905:exon14:c.C4567G:p.P1523A,ENSG00000174197:ENST00000389936:exon14:c.C4567G:p.P1523A,ENSG00000174197:ENST00000545763:exon14:c.C4567G:p.P1523A Score=528;Name=lod=187 NA 15q15.1 NA NA NA NA rs17677991 0.3 0.3 0.277 0.301318 0.3797 0.1875 0.4597 0.2141 0.3436 0.39 0.17 0.44 0.22 0.3371 0.44 0.02 D 0.942 P 0.573 P 0.006 N 0.312 P 0.55 N -2.08 D -1.140 T 0.000 T 0.345 1.52 11.03 4.22 0.919 1.448 8.768 1.520149 1.520149 0.04 0.345203 0.227296 NA 0.181 NA 12.2713304 427 20 4705274 4705274 C T exonic PRND NA nonsynonymous SNV PRND:NM_012409:exon2:c.C77T:p.T26M exonic ENSG00000171864 NA nonsynonymous SNV ENSG00000171864:ENST00000305817:exon2:c.C77T:p.T26M NA NA 20p13 NA NA NA NA rs41279424 0.01 0.01 0.006 0.00738818 0.0199 NA 0.0072 NA 0.0123 0.01 NA 0.01 NA 0.0202 0.022 0 D 0.088 B 0.016 B 0.000 D 1.000 N 0 N 1.97 T -1.031 T 0.016 T 0.063 1.001 9.089 5.47 2.560 3.545 14.825 1.001333 NA 0 0.022209 0.005447 NA NA NA 12.2710244 427 9 91606812 91606812 G A exonic C9orf47 NA nonsynonymous SNV C9orf47:NM_001001938:exon3:c.G518A:p.S173N,C9orf47:NM_001142413:exon3:c.G461A:p.S154N exonic ENSG00000186354 NA nonsynonymous SNV ENSG00000186354:ENST00000375850:exon2:c.G617A:p.S206N,ENSG00000186354:ENST00000334490:exon3:c.G518A:p.S173N,ENSG00000186354:ENST00000375851:exon3:c.G461A:p.S154N NA NA 9q22.1 NA Name=HA-E2F1 Name=21 NA rs34421923 0.01 0.01 0.009 0.00798722 0.0308 NA 0.0086 0.0008 0.002 0.03 NA 0.01 0.002 0.014 0.03 0 D 0.995 D 0.918 D . . 1.000 N 0 N . . -1.095 T 0.031 T 0.041 1.722 11.72 1.95 0.776 -0.034 5.757 1.721699 1.721699 0.02 0.023372 0.002497 NA 0.007 NA 12.2651614 428 14 23861811 23861811 A G exonic MYH6 NA nonsynonymous SNV MYH6:NM_002471:exon25:c.T3302C:p.V1101A exonic ENSG00000197616 NA nonsynonymous SNV ENSG00000197616:ENST00000356287:exon24:c.T3302C:p.V1101A,ENSG00000197616:ENST00000405093:exon25:c.T3302C:p.V1101A Score=578;Name=lod=297 Name=Heart rate,Electrocardiographic traits 14q11.2 NA NA NA NA rs365990 0.36 0.36 0.372 0.3748 0.3489 0.1597 0.2925 0.6437 0.318 0.35 0.16 0.34 0.63 0.3461 0.63 1 T 0.0 B 0.0 B . . 1.000 P -0.935 N -0.95 T -0.949 T 0.000 T 0.021 -0.194 3.06 4.69 1.118 2.250 9.475 -0.193522 NA 1 0.373721 0.615524 NA 0.391 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037473.1;CLNDSDB=.;CLNDSDBID=. 12.2646124 428 14 69697289 69697289 G A exonic EXD2 NA nonsynonymous SNV EXD2:NM_018199:exon3:c.G316A:p.D106N,EXD2:NM_001193361:exon4:c.G691A:p.D231N,EXD2:NM_001193363:exon4:c.G691A:p.D231N,EXD2:NM_001193360:exon5:c.G691A:p.D231N,EXD2:NM_001193362:exon5:c.G691A:p.D231N exonic ENSG00000081177 NA nonsynonymous SNV ENSG00000081177:ENST00000409675:exon3:c.G316A:p.D106N,ENSG00000081177:ENST00000449989:exon3:c.G316A:p.D106N,ENSG00000081177:ENST00000312994:exon4:c.G691A:p.D231N,ENSG00000081177:ENST00000409018:exon4:c.G691A:p.D231N,ENSG00000081177:ENST00000409242:exon4:c.G316A:p.D106N,ENSG00000081177:ENST00000409949:exon5:c.G316A:p.D106N,ENSG00000081177:ENST00000409014:exon6:c.G316A:p.D106N,ENSG00000081177:ENST00000413191:exon6:c.G316A:p.D106N Score=592;Name=lod=341 NA 14q24.1 NA NA NA NA rs35010854 0.01 0.01 0.004 0.00798722 0.0229 NA 0.0086 0.0015 0.0092 0.02 NA 0.01 0.002 0.0195 0.029 0.11 T 0.346 B 0.166 B 0.000 N 1.000 D 1.7 L -0.13 T -0.868 T 0.089 T 0.021 5.215 33 4.44 1.359 4.444 14.038 5.215178 5.215178 0.01 0.029535 0.006355 NA 0.014 NA 12.2613984 429 11 309127 309127 A G exonic IFITM2 NA nonsynonymous SNV IFITM2:NM_006435:exon2:c.A361G:p.I121V exonic ENSG00000185201 NA nonsynonymous SNV ENSG00000185201:ENST00000399817:exon2:c.A361G:p.I121V,ENSG00000185201:ENST00000602569:exon2:c.A301G:p.I101V,ENSG00000185201:ENST00000533141:exon3:c.A301G:p.I101V NA NA 11p15.5 NA Name=Pol2 Name=7 NA rs1059091 0.5 0.5 0.5 0.540535 0.332 0.6944 0.4553 0.5976 0.5798 0.34 0.69 0.44 0.58 0.4185 0.69 0.21 T 0.0 B 0.002 B . . 1.000 P 2.115 M -2.15 D -0.947 T 0.000 T 0.075 0.838 8.381 -3.77 -1.307 -0.264 4.320 0.837569 NA 0 0.329548 0.545631 NA 0.457 NA 12.2532854 429 4 57250285 57250285 T C exonic AASDH NA nonsynonymous SNV AASDH:NM_181806:exon2:c.A181G:p.I61V exonic ENSG00000157426 NA nonsynonymous SNV ENSG00000157426:ENST00000205214:exon2:c.A181G:p.I61V,ENSG00000157426:ENST00000451613:exon2:c.A181G:p.I61V,ENSG00000157426:ENST00000502617:exon2:c.A181G:p.I61V,ENSG00000157426:ENST00000503808:exon2:c.A181G:p.I61V,ENSG00000157426:ENST00000514745:exon2:c.A181G:p.I61V Score=548;Name=lod=224 NA 4q12 Score=763;Name=V$STAT1_01 NA NA NA rs34543011 0.07 0.07 0.064 0.0646965 0.0179 0.1905 0.0231 0.0129 0.0828 0.02 0.21 0.04 0.02 0.0422 0.21 0.8 T 0.068 B 0.088 B 0.000 N 0.000 P 0.295 N 3.92 T -1.010 T 0.000 T 0.152 1.834 12.09 4.74 1.058 1.273 11.013 1.833908 1.833908 0.14 0.020814 0.013164 NA 0.058 NA 12.2524194 429 2 54135936 54135936 T C exonic PSME4 NA nonsynonymous SNV PSME4:NM_014614:exon22:c.A2614G:p.I872V exonic ENSG00000068878 NA nonsynonymous SNV ENSG00000068878:ENST00000404125:exon22:c.A2614G:p.I872V Score=583;Name=lod=312 NA 2p16.2 NA NA NA NA rs2302878 0.1 0.1 0.096 0.105232 0.0109 0.2163 0.0922 0.0923 0.1145 0.01 0.24 0.07 0.09 0.0613 0.24 0.11 T 0.001 B 0.002 B 0.000 D 0.000 P 0.55 N -0.09 T -1.110 T 0.000 T 0.05 1.497 10.95 4.79 2.263 3.818 7.493 1.496838 1.496838 0.17 0.01013 0.088783 NA 0.072 NA 12.2510034 429 2 80530062 80530062 T C exonic LRRTM1 NA nonsynonymous SNV LRRTM1:NM_178839:exon2:c.A883G:p.I295V exonic ENSG00000162951 NA nonsynonymous SNV ENSG00000162951:ENST00000295057:exon2:c.A883G:p.I295V,ENSG00000162951:ENST00000409148:exon2:c.A883G:p.I295V,ENSG00000162951:ENST00000417012:exon2:c.A883G:p.I295V,ENSG00000162951:ENST00000433224:exon2:c.A883G:p.I295V Score=750;Name=lod=1483 NA 2p12 Score=850;Name=V$RORA2_01 NA NA NA rs76300062 0.03 0.03 0.022 0.0229633 0.0358 0.0397 0.0144 0.0061 0.0215 0.04 0.04 0.02 0.0041 0.0252 0.04 . . 0.001 B 0.005 B 0.009 N 1.000 D 0.42 N 0.02 T -1.055 T 0.024 T 0.04 -0.731 0.873 -8.12 -2.019 0.178 11.500 -0.731247 NA 0.4 0.022442 0.008398 NA 0.014 NA 12.2498914 430 12 53086645 53086645 G A exonic KRT77 NA nonsynonymous SNV KRT77:NM_175078:exon6:c.C1100T:p.T367M exonic ENSG00000189182 NA nonsynonymous SNV ENSG00000189182:ENST00000341809:exon6:c.C1100T:p.T367M,ENSG00000189182:ENST00000537195:exon7:c.C401T:p.T134M NA NA 12q13.13 NA NA NA NA rs3782489 0.33 0.33 0.321 0.379393 0.3499 0.245 0.3703 0.4584 0.4479 0.36 0.22 0.33 0.43 0.3699 0.43 0.01 D 0.999 D 0.964 D . . 1.000 P 3.3 M -1.64 D -1.245 T 0.000 T 0.059 3.073 16.26 1.41 0.371 1.188 8.836 3.073422 3.073422 0 0.368883 0.420073 NA 0.384 NA 12.2446504 430 13 23928671 23928671 C T exonic SACS NA nonsynonymous SNV SACS:NM_014363:exon8:c.G2080A:p.A694T exonic ENSG00000151835 NA nonsynonymous SNV ENSG00000151835:ENST00000423156:exon1:c.G952A:p.A318T,ENSG00000151835:ENST00000382292:exon7:c.G2080A:p.A694T,ENSG00000151835:ENST00000382298:exon8:c.G2080A:p.A694T Score=450;Name=lod=90 NA 13q12.12 NA NA NA NA rs17325713 0.01 0.01 0.011 0.0081869 0.0318 NA 0.0043 NA 0.0061 0.03 NA 0.01 NA 0.0233 0.037 0.67 T 0.003 B 0.012 B 0.000 D 1.000 N 0 N 2.3 T -1.075 T 0.008 T 0.213 2.171 13.22 5.17 1.524 6.006 17.208 2.170806 2.170806 0.02 0.036977 0.003858 NA 0.058 NA 12.2412564 430 5 178555097 178555097 C T exonic ADAMTS2 NA nonsynonymous SNV ADAMTS2:NM_014244:exon17:c.G2480A:p.R827Q exonic ENSG00000087116 NA nonsynonymous SNV ENSG00000087116:ENST00000251582:exon17:c.G2480A:p.R827Q Score=336;Name=lod=31 NA 5q35.3 NA NA NA NA rs35445112 0.02 0.02 0.018 0.0113818 0.0348 NA 0.0288 0.0008 0.001 0.04 NA 0.03 NA 0.0253 0.04 0.27 T 0.038 B 0.013 B 0.004 N 0.998 D 1.7 L 0.68 T -1.041 T 0.025 T 0.135 1.557 11.16 3.4 2.232 3.942 3.729 1.556824 1.556824 0.03 0.037674 0.006355 NA 0.022 NA 12.2355594 431 10 88719789 88719789 C G exonic SNCG NA synonymous SNV SNCG:NM_003087:exon3:c.C195G:p.A65A exonic ENSG00000173267 NA nonsynonymous SNV ENSG00000173267:ENST00000348795:exon3:c.C247G:p.R83G NA NA 10q23.2 NA Name=HEY1 NA NA rs760113 0.21 0.21 0.219 0.230032 0.2346 0.0615 0.2262 0.2693 0.3487 0.24 0.07 0.27 0.27 0.2827 0.3 0 D . . . . . . 0.000 P . . -2.41 D -0.917 T 0.000 T . 1.185 9.818 -8.16 -1.414 -1.896 1.049 1.184969 NA 0 0.248837 0.274172 NA 0.283 NA 12.233863 431 3 3887508 3887508 C G exonic LRRN1 NA nonsynonymous SNV LRRN1:NM_020873:exon2:c.C1183G:p.L395V exonic ENSG00000175928 NA nonsynonymous SNV ENSG00000175928:ENST00000319331:exon2:c.C1183G:p.L395V NA NA 3p26.2 Score=895;Name=V$YY1_01 NA NA Score=184;Name=1515397.10_1_+_184 rs35362954 0.02 0.02 0.01 0.0139776 0.0398 NA 0.036 0.0008 0.0041 0.03 NA 0.04 0.002 0.0257 0.042 0.39 T 0.323 B 0.079 B 0.000 D 0.976 N 1.79 L 0.5 T -1.061 T 0.037 T 0.189 1.171 9.763 -6.55 -0.996 -0.207 23.043 1.170701 NA 0.04 0.042209 0.007036 NA 0.014 NA 12.2256244 432 6 52343899 52343899 T C exonic EFHC1 NA nonsynonymous SNV EFHC1:NM_018100:exon8:c.T1343C:p.M448T,EFHC1:NM_001172420:exon9:c.T1286C:p.M429T exonic ENSG00000096093 NA nonsynonymous SNV ENSG00000096093:ENST00000371068:exon8:c.T1343C:p.M448T,ENSG00000096093:ENST00000433625:exon8:c.T1070C:p.M357T,ENSG00000096093:ENST00000538167:exon8:c.T1286C:p.M429T Score=523;Name=lod=178 NA 6p12.2 NA NA NA NA rs1266787 0.07 0.07 0.077 0.0722843 0.0408 NA 0.0317 0.2194 0.0092 0.04 NA 0.03 0.21 0.0389 0.21 1 T 0.063 B 0.034 B 0.000 N 0.026 P -0.28 N 2.06 T -0.949 T 0.007 T 0.184 0.988 9.035 3.56 1.066 2.699 9.492 0.988215 NA 0.35 0.029767 0.196096 NA 0.145 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116943.2;CLNDSDB=.;CLNDSDBID=. 12.2238664 432 2 69736561 69736561 A G exonic AAK1 NA nonsynonymous SNV AAK1:NM_014911:exon14:c.T1808C:p.V603A exonic ENSG00000115977 NA nonsynonymous SNV ENSG00000115977:ENST00000406297:exon14:c.T1808C:p.V603A,ENSG00000115977:ENST00000409068:exon14:c.T1808C:p.V603A,ENSG00000115977:ENST00000409085:exon14:c.T1808C:p.V603A Score=659;Name=lod=635 NA 2p13.3 NA Name=MafF_(M8194) NA NA rs56038532 0.02 0.02 0.015 0.0141773 0.0417 NA 0.0259 0.0015 0.0092 0.04 NA 0.04 NA 0.0245 0.043 0.57 T 0.001 B 0.001 B 0.120 N 0.750 N -0.205 N 1.86 T -1.033 T 0.006 T 0.054 1.52 11.03 4.6 2.179 2.356 3.879 1.519829 1.519829 0.22 0.043288 0.010576 NA 0.007 NA 12.2238454 432 9 215296 215296 A G exonic C9orf66 NA nonsynonymous SNV C9orf66:NM_152569:exon1:c.T101C:p.V34A exonic ENSG00000183784 NA nonsynonymous SNV ENSG00000183784:ENST00000382387:exon1:c.T101C:p.V34A NA NA 9p24.3 NA Name=TBP,CCNT2,ZNF263,CTCF,Pol2 Name=8 NA rs73370597 0.02 0.02 0.023 0.0353435 0.0298 0.001 0.0418 0.0333 0.0746 0.02 NA 0.05 0.04 0.0426 0.05 0 D 0.08 B 0.032 B . . 1.000 N 0 N 2.13 T -0.996 T 0.004 T 0.079 1.304 10.27 -5.9 -1.583 -0.752 1.803 1.304136 1.304136 NA 0.041182 0.031392 NA 0.036 NA 12.2197514 432 11 34910397 34910397 C T exonic APIP NA nonsynonymous SNV APIP:NM_015957:exon4:c.G227A:p.C76Y exonic ENSG00000149089 NA nonsynonymous SNV ENSG00000149089:ENST00000532428:exon2:c.G86A:p.C29Y,ENSG00000149089:ENST00000395787:exon4:c.G227A:p.C76Y,ENSG00000149089:ENST00000278359:exon5:c.G278A:p.C93Y Score=592;Name=lod=338 NA 11p13 Score=933;Name=V$HFH3_01 NA NA NA rs1977420 0.46 0.46 0.411 0.457468 0.3559 0.7371 0.4035 0.3056 0.5174 0.36 0.71 0.4 0.36 0.4042 0.71 0.31 T 0.012 B 0.036 B 0.000 D 0.000 P 1.085 L 2.03 T -0.965 T 0.000 T 0.595 2.895 15.65 5.85 2.771 4.655 20.177 2.895387 2.895387 0.5 0.357376 0.30895 NA 0.493 NA 12.2158574 433 15 81665021 81665021 T A exonic TMC3 NA nonsynonymous SNV TMC3:NM_001080532:exon2:c.A147T:p.Q49H exonic ENSG00000188869 NA nonsynonymous SNV ENSG00000188869:ENST00000359440:exon2:c.A147T:p.Q49H,ENSG00000188869:ENST00000558726:exon2:c.A147T:p.Q49H Score=621;Name=lod=445 NA 15q25.1 Score=776;Name=V$PAX6_01 NA Name=2 NA rs76902501 0.05 0.05 0.053 0.0577077 0.0278 0.0694 0.0231 0.0923 0.0542 0.03 0.08 0.03 0.08 0.0496 0.08 0.01 D 0.898 P 0.553 P 0.002 N 0.069 P 1.75 L -0.2 T -0.937 T 0.015 T 0.075 3.338 17.23 1.45 0.046 0.464 1.050 3.337639 3.337639 0.01 0.041494 0.066684 NA 0.036 NA 12.2144394 433 5 127873094 127873094 G A exonic FBN2 NA nonsynonymous SNV FBN2:NM_001999:exon1:c.C203T:p.A68V exonic ENSG00000138829 NA nonsynonymous SNV ENSG00000138829:ENST00000262464:exon1:c.C203T:p.A68V,ENSG00000138829:ENST00000502468:exon1:c.C203T:p.A68V,ENSG00000138829:ENST00000508989:exon1:c.C203T:p.A68V,ENSG00000138829:ENST00000508053:exon7:c.C203T:p.A68V NA NA 5q23.3 NA NA Name=70 NA rs62390671 0.02 0.02 0.013 0.0147764 0.0417 NA 0.0187 0.0076 0.0092 0.04 NA 0.03 0.0041 0.0331 0.047 0.27 T 0.0 B 0.001 B 0.177 N 0.998 N -0.69 N -0.67 T -0.942 T 0.064 T 0.044 2.411 14.02 2.94 1.155 1.937 7.027 2.411265 2.411265 0.05 0.046609 0.013895 NA 0.007 CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000079963.3|RCV000125030.1;CLNDSDB=.|.;CLNDSDBID=.|. 12.2119244 434 6 31238910 31238910 T G exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon3:c.A559C:p.T187P,HLA-C:NM_002117:exon3:c.A559C:p.T187P exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon3:c.A559C:p.T187P,ENSG00000204525:ENST00000383329:exon3:c.A559C:p.T187P NA NA 6p21.33 NA Name=Pol2-4H8 NA NA rs1050685 0.22 0.22 NA 0.378794 0.3141 0.3641 0.3761 0.413 0.4162 0.2 0.24 0.2 0.25 0.3163 0.25 0.11 T 0.213 B 0.577 P 0.000 U 1.000 N 2.585 M 5.7 T -0.972 T 0.003 T 0.701 -0.28 2.661 -5.41 -4.140 -2.856 8.140 -0.27981 NA 0.07 NA NA NA NA NA 12.2029334 434 1 216051125 216051125 G A exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon43:c.C8656T:p.L2886F exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon43:c.C8656T:p.L2886F,ENSG00000042781:ENST00000366943:exon43:c.C8656T:p.L2886F Score=742;Name=lod=1377 NA 1q41 NA NA NA NA rs41277200 0.07 0.07 0.055 0.0776757 0.0457 0.1458 0.0576 0.0582 0.0808 0.04 0.12 0.05 0.06 0.052 0.12 0.25 T 0.0 B 0.0 B 0.000 N 0.000 P -2.08 N 0.45 T -1.096 T 0.001 T 0.091 0.68 7.636 5.9 1.063 6.926 12.131 0.679967 NA NA 0.03814 0.062415 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041933.1;CLNDSDB=.;CLNDSDBID=. 12.1974934 434 9 18639300 18639300 G A exonic ADAMTSL1 NA nonsynonymous SNV ADAMTSL1:NM_001040272:exon7:c.G725A:p.S242N,ADAMTSL1:NM_052866:exon7:c.G725A:p.S242N exonic ENSG00000178031 NA nonsynonymous SNV ENSG00000178031:ENST00000276935:exon7:c.G725A:p.S242N,ENSG00000178031:ENST00000327883:exon7:c.G725A:p.S242N,ENSG00000178031:ENST00000380548:exon7:c.G725A:p.S242N,ENSG00000178031:ENST00000380566:exon7:c.G725A:p.S242N Score=669;Name=lod=695 NA 9p22.1 NA NA NA NA rs776755 0.06 0.06 0.059 0.0625 0.0497 NA 0.0432 0.174 0.0031 0.05 NA 0.04 0.16 0.0446 0.16 0.37 T 0.915 P 0.468 P . . 0.000 P -0.015 N 0.58 T -1.085 T 0.001 T 0.194 1.255 10.09 4.87 1.580 4.426 15.239 1.255422 1.255422 0.57 0.042219 0.161598 NA 0.058 NA 12.1968144 435 11 119185677 119185677 T C exonic MCAM NA nonsynonymous SNV MCAM:NM_006500:exon3:c.A266G:p.E89G exonic ENSG00000076706 NA nonsynonymous SNV ENSG00000076706:ENST00000264036:exon3:c.A266G:p.E89G Score=439;Name=lod=81 NA 11q23.3 Score=856;Name=V$TST1_01 NA NA NA rs34587557 0.02 0.02 0.013 0.0207668 0.0477 NA 0.049 NA 0.0225 0.04 NA 0.04 NA 0.0372 0.054 0.23 T 0.018 B 0.098 B . . 1.000 D 1.245 L -0.14 T -1.011 T 0.040 T 0.06 3.347 17.27 5.41 2.040 0.893 11.83 3.347132 3.347132 0.13 0.054133 0.008189 ID=COSM428543;OCCURENCE=1(breast) 0.072 NA 12.1943004 435 19 8183871 8183871 G A exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon25:c.C3247T:p.R1083W exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon25:c.C3247T:p.R1083W,ENSG00000142449:ENST00000600128:exon26:c.C3247T:p.R1083W,ENSG00000142449:ENST00000601739:exon26:c.C3247T:p.R1083W Score=437;Name=lod=80 NA 19p13.2 NA NA NA NA rs35579498 0.1 0.1 0.07 0.0798722 0.0388 0.1796 0.1988 0.0061 0.0348 0.04 0.22 0.15 0.01 0.0635 0.22 0 D 0.039 B 0.005 B 0.000 U 0.003 P 2.095 M -3.03 D -0.954 T 0.001 T 0.075 3.081 16.29 0.394 -0.036 2.788 6.274 3.080514 3.080514 0 0.038721 0.014526 NA 0.036 NA 12.1923124 436 1 183099560 183099560 G A exonic LAMC1 NA nonsynonymous SNV LAMC1:NM_002293:exon19:c.G3362A:p.R1121Q exonic ENSG00000135862 NA nonsynonymous SNV ENSG00000135862:ENST00000258341:exon19:c.G3362A:p.R1121Q Score=571;Name=lod=278 NA 1q25.3 NA NA NA NA rs20559 0.02 0.02 0.018 0.0155751 0.0467 NA 0.0144 0.0008 0.0204 0.05 NA 0.02 0.002 0.0419 0.063 0.6 T 0.014 B 0.002 B 0.005 N 0.998 D 0.885 L 1.98 T -1.046 T 0.004 T 0.071 2.509 14.35 4.76 2.339 4.810 9.970 2.509314 2.509314 0.37 0.063023 0.013391 NA 0.08 NA 12.1817104 436 8 145007187 145007187 G A exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon14:c.C1469T:p.A490V,PLEC:NM_201379:exon14:c.C1445T:p.A482V,PLEC:NM_201380:exon14:c.C1922T:p.A641V,PLEC:NM_201381:exon14:c.C1415T:p.A472V,PLEC:NM_201382:exon14:c.C1511T:p.A504V,PLEC:NM_201383:exon14:c.C1523T:p.A508V,PLEC:NM_201384:exon14:c.C1511T:p.A504V,PLEC:NM_000445:exon15:c.C1592T:p.A531V exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon14:c.C1922T:p.A641V,ENSG00000178209:ENST00000345136:exon14:c.C1511T:p.A504V,ENSG00000178209:ENST00000354589:exon14:c.C1511T:p.A504V,ENSG00000178209:ENST00000354958:exon14:c.C1445T:p.A482V,ENSG00000178209:ENST00000356346:exon14:c.C1469T:p.A490V,ENSG00000178209:ENST00000357649:exon14:c.C1523T:p.A508V,ENSG00000178209:ENST00000398774:exon14:c.C1415T:p.A472V,ENSG00000178209:ENST00000527096:exon14:c.C1580T:p.A527V,ENSG00000178209:ENST00000436759:exon15:c.C1592T:p.A531V,ENSG00000178209:ENST00000528025:exon16:c.C1643T:p.A548V Score=378;Name=lod=46 NA 8q24.3 Score=759;Name=V$TCF11MAFG_01 NA NA NA rs11136336 0.24 0.24 0.219 0.23143 0.4066 0.1399 0.2867 0.0605 0.3374 0.4 0.16 0.29 0.06 0.3669 0.4 0.12 T 0.0 B 0.0 B 0.028 U 1.000 P -0.55 N -1.03 T -1.073 T 0.000 T 0.052 1.073 9.379 3.92 2.261 1.952 7.883 1.072611 NA 0.01 0.37909 0.10286 NA 0.283 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117955.2;CLNDSDB=.;CLNDSDBID=. 12.1807434 436 11 67288594 67288594 C T exonic CABP2 NA nonsynonymous SNV CABP2:NM_016366:exon4:c.G281A:p.R94Q exonic ENSG00000167791 NA nonsynonymous SNV ENSG00000167791:ENST00000353903:exon3:c.G110A:p.R37Q,ENSG00000167791:ENST00000294288:exon4:c.G281A:p.R94Q Score=621;Name=lod=447 NA 11q13.2 Score=777;Name=V$PAX5_02 NA NA NA rs2276118 0.44 0.44 0.415 0.429712 0.5606 0.6558 0.3775 0.0303 0.6391 0.54 0.67 0.41 0.04 0.5289 0.67 0.02 D 0.771 P 0.204 B 0.000 D 0.113 P 0.495 N -0.04 T -0.958 T 0.000 T 0.051 1.034 9.221 3.61 1.256 0.618 6.202 1.033505 NA 0.19 0.567986 0.126818 NA 0.37 NA 12.1758474 437 19 1043103 1043103 G A exonic ABCA7 NA nonsynonymous SNV ABCA7:NM_019112:exon8:c.G643A:p.G215S exonic ENSG00000064687 NA nonsynonymous SNV ENSG00000064687:ENST00000435683:exon2:c.G229A:p.G77S,ENSG00000064687:ENST00000433129:exon7:c.G643A:p.G215S,ENSG00000064687:ENST00000263094:exon8:c.G643A:p.G215S NA NA 19p13.3 NA Name=Pol2 Name=14 NA rs72973581 0.02 0.02 0.031 0.0197684 0.0547 NA 0.0202 0.0053 0.0235 0.05 NA 0.02 0.01 0.0432 0.062 0.44 T 0.048 B 0.005 B . . 1.000 N 1.29 L -2.0 D -0.949 T 0.061 T 0.045 0.262 5.418 -5.86 -1.248 0.841 5.684 0.26222 NA 0.4 0.062442 0.014766 NA 0.065 NA 12.1729914 437 2 85824251 85824251 T C exonic RNF181 NA nonsynonymous SNV RNF181:NM_016494:exon4:c.T352C:p.Y118H exonic ENSG00000168894 NA nonsynonymous SNV ENSG00000168894:ENST00000306368:exon4:c.T352C:p.Y118H,ENSG00000168894:ENST00000441634:exon4:c.T352C:p.Y118H Score=589;Name=lod=329 NA 2p11.2 Score=814;Name=V$HNF4_01 NA NA NA rs6643 0.23 0.23 0.23 0.227436 0.0358 0.2966 0.0807 0.5189 0.0634 0.04 0.32 0.08 0.54 0.098 0.54 0.88 T 0.0 B 0.0 B 0.005 N 1.000 P 0.07 N -0.24 T -0.975 T 0.000 T 0.119 0.317 5.72 4.31 1.276 2.607 10.751 0.317352 NA 1 0.027093 0.437358 NA 0.261 NA 12.1724404 437 2 128394955 128394955 A G exonic MYO7B NA nonsynonymous SNV MYO7B:NM_001080527:exon47:c.A6314G:p.Q2105R exonic ENSG00000169994 NA nonsynonymous SNV ENSG00000169994:ENST00000409090:exon23:c.A2873G:p.Q958R,ENSG00000169994:ENST00000409816:exon46:c.A6314G:p.Q2105R,ENSG00000169994:ENST00000389524:exon47:c.A6317G:p.Q2106R,ENSG00000169994:ENST00000428314:exon47:c.A6314G:p.Q2105R Score=243;Name=lod=13 NA 2q14.3 NA NA Name=5 NA rs11686946 0.16 0.16 0.135 0.206669 0.1968 0.1865 0.1239 0.1135 0.4223 0.2 0.2 0.13 0.09 0.2828 0.2 0.19 T 0.546 P 0.115 B 0.359 N 0.425 P 1.67 L -2.1 D -1.096 T 0.001 T 0.088 2.406 14 2.65 0.819 6.232 8.260 2.406269 2.406269 0.08 0.186644 0.123932 ID=COSM330409,COSM330410;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) 0.123 NA 12.1670894 437 1 19612477 19612477 C T exonic AKR7A3 NA nonsynonymous SNV AKR7A3:NM_012067:exon3:c.G412A:p.V138M exonic ENSG00000162482 NA nonsynonymous SNV ENSG00000162482:ENST00000361640:exon3:c.G412A:p.V138M Score=489;Name=lod=130 NA 1p36.13 Score=825;Name=V$HMX1_01 NA NA NA rs2231198 0.49 0.49 0.45 0.463259 0.3817 0.6905 0.5432 0.3646 0.3896 0.37 0.72 0.54 0.38 0.4239 0.72 0.15 T 0.375 B 0.057 B 0.001 N 0.988 P 2.61 M 1.91 T -0.983 T 0.000 T 0.06 0.523 6.831 3.04 1.542 2.346 5.909 0.52256 NA 0.12 0.361628 0.366985 NA 0.435 NA 12.1661054 437 17 78079669 78079669 G A exonic GAA NA nonsynonymous SNV GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H exonic ENSG00000171298 NA nonsynonymous SNV ENSG00000171298:ENST00000302262:exon3:c.G668A:p.R223H,ENSG00000171298:ENST00000570803:exon3:c.G668A:p.R223H,ENSG00000171298:ENST00000390015:exon4:c.G668A:p.R223H NA NA 17q25.3 NA Name=E2F6_(H-50) Name=43 NA rs1042395 0.61 0.61 0.618 0.602436 0.7535 0.5437 0.5418 0.5212 0.6605 0.75 0.57 0.55 0.5 0.676 0.75 0.58 T 0.206 B 0.022 B 0.000 D 1.000 P 2.27 M -2.0 D -0.910 T 0.000 T 0.37 0.241 5.299 1.76 1.113 -0.044 10.855 0.240631 NA 0.29 0.73814 0.544051 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078185.2;CLNDSDB=.;CLNDSDBID=. 12.1656934 437 6 31239417 31239417 C T exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon2:c.G302A:p.S101N,HLA-C:NM_002117:exon2:c.G302A:p.S101N exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon2:c.G302A:p.S101N,ENSG00000204525:ENST00000376237:exon2:c.G302A:p.S101N,ENSG00000204525:ENST00000383329:exon2:c.G302A:p.S101N NA NA 6p21.33 Score=795;Name=V$ARP1_01 Name=NFKB,CTCF,RFX5_(N-494),Pol2,Pol2-4H8 Name=31 NA rs2308557 0.36 0.36 0.353 0.38738 0.4125 0.1399 0.3862 0.5408 0.41 0.41 0.14 0.39 0.54 0.3785 0.54 0.75 T 0.0 B 0.003 B 0.082 U 1.000 P -0.81 N 5.85 T -0.939 T 0.000 T 0.416 0.495 6.683 -4.12 -0.960 -3.592 4.736 0.494653 NA 0.46 0.376707 0.535738 NA 0.167 NA 12.1656264 438 16 84256410 84256410 C T exonic KCNG4 NA nonsynonymous SNV KCNG4:NM_172347:exon3:c.G973A:p.G325R exonic ENSG00000168418 NA nonsynonymous SNV ENSG00000168418:ENST00000308251:exon3:c.G973A:p.G325R NA NA 16q24.1 NA NA NA NA rs7196482 0.17 0.17 0.15 0.176717 0.2266 0.0506 0.1686 0.2156 0.2086 0.24 0.05 0.17 0.21 0.2206 0.28 0.01 D 0.976 D 0.672 P 0.004 N 1.000 P 2.285 M -4.22 D -0.880 T 0.002 T 0.059 0.795 8.185 -2.74 -0.433 -0.117 8.171 0.794792 NA NA 0.223488 0.214091 NA 0.304 NA 12.1626454 438 6 31324064 31324064 T A exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon3:c.A499T:p.T167S exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000434333:exon2:c.A532T:p.T178S,ENSG00000234745:ENST00000412585:exon3:c.A499T:p.T167S NA NA 6p21.33 NA Name=Pol2-4H8 Name=6 NA rs1050367 0.08 0.08 0.04 0.0682907 0.0577 0.12 0.0576 0.0749 0.0245 0.06 0.12 0.05 0.07 0.065 0.12 0.01 D 0.001 B 0.005 B 0.144 U 1.000 P 2.78 M 5.52 T -0.983 T 0.002 T 0.58 0.368 5.999 -0.943 -0.714 1.078 4.691 0.368207 NA 0.01 0.049443 0.05343 NA 0.007 NA 12.1611904 438 11 35201842 35201842 C T exonic CD44 NA synonymous SNV CD44:NM_000610:exon3:c.C255T:p.H85H,CD44:NM_001001389:exon3:c.C255T:p.H85H,CD44:NM_001001390:exon3:c.C255T:p.H85H,CD44:NM_001001391:exon3:c.C255T:p.H85H,CD44:NM_001202555:exon3:c.C255T:p.H85H,CD44:NM_001202556:exon3:c.C255T:p.H85H,CD44:NM_001202557:exon3:c.C255T:p.H85H exonic ENSG00000026508 NA synonymous SNV ENSG00000026508:ENST00000279452:exon2:c.C135T:p.H45H,ENSG00000026508:ENST00000525211:exon2:c.C192T:p.H64H,ENSG00000026508:ENST00000526000:exon2:c.C189T:p.H63H,ENSG00000026508:ENST00000263398:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000352818:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000360158:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000415148:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000428726:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000433354:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000433892:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000434472:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000437706:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000449691:exon3:c.C255T:p.H85H,ENSG00000026508:ENST00000526669:exon3:c.C255T:p.H85H NA NA 11p13 Score=921;Name=V$MYCMAX_02 Name=Pol2-4H8 Name=3 NA rs1071695 0.15 0.15 0.151 0.139377 0.173 0.0714 0.2205 0.149 0.1043 0.17 0.08 0.22 0.15 0.161 0.22 . . . . . . . . 0.000 P . . . . -1.034 T 0.000 T . 0.088 4.473 -8.16 -1.565 -3.037 17.435 0.087625 NA NA 0.171824 0.161671 ID=COSM1353673;OCCURENCE=1(large_intestine) 0.116 NA 12.1608426 438 12 106460938 106460938 G C exonic NUAK1 NA nonsynonymous SNV NUAK1:NM_014840:exon7:c.C1628G:p.P543R exonic ENSG00000074590 NA nonsynonymous SNV ENSG00000074590:ENST00000261402:exon7:c.C1628G:p.P543R Score=346;Name=lod=34 NA 12q23.3 NA NA NA NA rs3741883 0.23 0.23 0.211 0.221446 0.2207 0.4177 0.2133 0.0408 0.2699 0.22 0.42 0.21 0.04 0.2248 0.42 0.32 T 0.93 P 0.383 B 0.000 D 0.029 P 0 N -0.76 T -0.996 T 0.000 T 0.1 1.139 9.64 5.53 2.596 3.525 12.754 1.138832 NA 0.02 0.228023 0.069451 ID=COSM147601,COSM147600;OCCURENCE=1(stomach) 0.101 NA 12.1598104 438 4 126241335 126241335 C G exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon1:c.C3769G:p.Q1257E exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000394329:exon1:c.C3769G:p.Q1257E Score=495;Name=lod=137 NA 4q28.1 Score=732;Name=V$MEF2_04 NA NA NA rs36052762 0.1 0.1 0.079 0.108626 0.0477 0.2014 0.1571 0.0234 0.1564 0.04 0.2 0.13 0.02 0.0852 0.2 0.34 T 0.054 B 0.08 B 0.005 U 0.000 P 0.84 L 5.33 T -0.679 T 0.000 T 0.131 -0.083 3.596 3.89 2.503 3.553 15.618 -0.082671 NA 0.2 0.044358 0.025067 NA 0.08 NA 12.1560754 438 19 10402938 10402938 G A exonic ICAM5 NA nonsynonymous SNV ICAM5:NM_003259:exon4:c.G901A:p.V301I exonic ENSG00000105376 NA nonsynonymous SNV ENSG00000105376:ENST00000221980:exon4:c.G901A:p.V301I Score=313;Name=lod=25 NA 19p13.2 Score=748;Name=V$TCF11MAFG_01 Name=ZBTB7A_(SC-34508),Pol2-4H8 Name=126 NA rs1056538 0.29 0.29 0.269 0.289537 0.4056 0.2371 0.5202 0.0439 0.3926 0.41 0.25 0.48 0.02 0.3829 0.48 0.28 T 0.006 B 0.006 B 0.325 N 0.999 P 1.87 L 3.44 T -0.951 T 0.000 T 0.07 3.266 16.96 3.27 1.336 0.359 5.044 3.265958 3.265958 0.29 0.389044 0.098956 NA 0.29 NA 12.1557894 439 10 100148176 100148176 A G exonic PYROXD2 NA nonsynonymous SNV PYROXD2:NM_032709:exon13:c.T1382C:p.M461T exonic ENSG00000119943 NA nonsynonymous SNV ENSG00000119943:ENST00000370575:exon13:c.T1382C:p.M461T Score=503;Name=lod=147 NA 10q24.2 NA Name=CTCF_(SC-5916),CTCF Name=9 NA rs2147896 0.56 0.56 0.542 0.599641 0.3479 0.5833 0.5418 0.8752 0.544 0.35 0.59 0.51 0.87 0.4745 0.87 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.28 N 2.07 T -0.968 T 0.000 T 0.142 -0.744 0.834 4.92 1.095 6.425 13.121 -0.744101 NA 1 0.358023 0.767136 NA 0.486 NA 12.1529104 439 8 144995494 144995494 C T exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon32:c.G8453A:p.R2818H,PLEC:NM_201379:exon32:c.G8429A:p.R2810H,PLEC:NM_201380:exon32:c.G8906A:p.R2969H,PLEC:NM_201381:exon32:c.G8399A:p.R2800H,PLEC:NM_201382:exon32:c.G8495A:p.R2832H,PLEC:NM_201383:exon32:c.G8507A:p.R2836H,PLEC:NM_201384:exon32:c.G8495A:p.R2832H,PLEC:NM_000445:exon33:c.G8576A:p.R2859H exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon32:c.G8906A:p.R2969H,ENSG00000178209:ENST00000345136:exon32:c.G8495A:p.R2832H,ENSG00000178209:ENST00000354589:exon32:c.G8495A:p.R2832H,ENSG00000178209:ENST00000354958:exon32:c.G8429A:p.R2810H,ENSG00000178209:ENST00000356346:exon32:c.G8453A:p.R2818H,ENSG00000178209:ENST00000357649:exon32:c.G8507A:p.R2836H,ENSG00000178209:ENST00000398774:exon32:c.G8399A:p.R2800H,ENSG00000178209:ENST00000527096:exon32:c.G8564A:p.R2855H,ENSG00000178209:ENST00000436759:exon33:c.G8576A:p.R2859H Score=535;Name=lod=200 NA 8q24.3 Score=772;Name=V$MIF1_01 NA NA NA rs6558407 0.25 0.25 0.205 0.230631 0.4294 0.1419 0.2939 0.028 0.3466 0.42 0.16 0.3 0.03 0.3444 0.42 0.06 T 0.116 B 0.01 B 0.005 U 0.236 P 3.305 M -1.25 T -1.069 T 0.000 T 0.142 1.19 9.838 2.11 0.222 2.910 7.380 1.190145 NA 0.01 0.41168 0.092323 NA 0.239 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078902.3;CLNDSDB=.;CLNDSDBID=. 12.1478534 439 6 152470752 152470752 C A exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon135:c.G24289T:p.A8097S,SYNE1:NM_182961:exon136:c.G24502T:p.A8168S exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000354674:exon7:c.G967T:p.A323S,ENSG00000131018:ENST00000539504:exon7:c.G967T:p.A323S,ENSG00000131018:ENST00000367257:exon16:c.G2440T:p.A814S,ENSG00000131018:ENST00000367251:exon21:c.G3268T:p.A1090S,ENSG00000131018:ENST00000356820:exon51:c.G8074T:p.A2692S,ENSG00000131018:ENST00000423061:exon135:c.G24289T:p.A8097S,ENSG00000131018:ENST00000265368:exon136:c.G24502T:p.A8168S,ENSG00000131018:ENST00000367255:exon136:c.G24502T:p.A8168S,ENSG00000131018:ENST00000448038:exon136:c.G24289T:p.A8097S,ENSG00000131018:ENST00000341594:exon137:c.G23338T:p.A7780S Score=497;Name=lod=139 NA 6q25.1 Score=880;Name=V$CEBPA_01 NA NA NA rs17082236 0.1 0.1 0.11 0.115615 0.0646 0.001 0.0865 0.3283 0.0194 0.06 NA 0.09 0.29 0.0677 0.29 0.78 T 0.003 B 0.016 B 0.009 N 0.000 P 0.345 N 0.63 T -1.055 T 0.027 T 0.054 2.819 15.39 3.96 0.760 1.542 10.982 2.819315 2.819315 0.14 0.054767 0.285747 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118466.2;CLNDSDB=.;CLNDSDBID=. 12.1462664 439 11 63991581 63991581 G A exonic TRPT1 NA nonsynonymous SNV TRPT1:NM_001160393:exon6:c.C664T:p.R222C,TRPT1:NM_031472:exon6:c.C514T:p.R172C,TRPT1:NM_001033678:exon7:c.C661T:p.R221C,TRPT1:NM_001160389:exon7:c.C667T:p.R223C,TRPT1:NM_001160390:exon7:c.C661T:p.R221C exonic ENSG00000149743 NA nonsynonymous SNV ENSG00000149743:ENST00000546133:exon3:c.C235T:p.R79C,ENSG00000149743:ENST00000394547:exon6:c.C514T:p.R172C,ENSG00000149743:ENST00000317459:exon7:c.C661T:p.R221C,ENSG00000149743:ENST00000394546:exon7:c.C667T:p.R223C NA NA 11q13.1 Score=781;Name=V$HEN1_02 Name=Pol2(b),Pol2 Name=28 NA rs11549690 0.03 0.03 0.018 0.0209665 0.0646 NA 0.0476 0.003 0.0031 0.06 NA 0.05 NA 0.0506 0.073 0.01 D 0.083 B 0.026 B 0.351 N 0.969 N 0.975 L 1.88 T -1.084 T 0.009 T 0.413 0.907 8.688 1.97 0.688 1.659 8.363 0.906698 NA 0 0.073074 0.01522 NA 0.014 NA 12.1450594 440 17 61987570 61987570 G T exonic CSHL1 NA nonsynonymous SNV CSHL1:NM_001318:exon3:c.C141A:p.D47E,CSHL1:NM_022580:exon3:c.C174A:p.D58E,CSHL1:NM_022579:exon4:c.C423A:p.D141E,CSHL1:NM_022581:exon4:c.C354A:p.D118E exonic ENSG00000204414 NA nonsynonymous SNV ENSG00000204414:ENST00000346606:exon3:c.C141A:p.D47E,ENSG00000204414:ENST00000438387:exon3:c.C174A:p.D58E,ENSG00000204414:ENST00000450719:exon3:c.C141A:p.D47E,ENSG00000204414:ENST00000561003:exon3:c.C174A:p.D58E,ENSG00000204414:ENST00000259003:exon4:c.C237A:p.D79E,ENSG00000204414:ENST00000309894:exon4:c.C423A:p.D141E Score=528;Name=lod=186 NA 17q23.3 NA NA NA NA rs2727307 0.32 0.32 0.276 0.277955 0.4185 0.4196 0.3256 0.059 0.2495 0.42 0.38 0.37 0.08 0.3593 0.42 0 D 0.389 B 0.266 B 0.008 N 0.000 P 0.895 L -2.64 D -1.072 T 0.000 T 0.403 0.843 8.404 3.07 1.730 1.431 8.274 0.842563 NA 0.06 0.414186 0.125965 ID=COSM1178446,COSM1178445;OCCURENCE=1(prostate) 0.362 NA 12.1413474 440 11 18743180 18743180 C G exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon4:c.G280C:p.A94P exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon4:c.G280C:p.A94P,ENSG00000179057:ENST00000513874:exon4:c.G280C:p.A94P Score=381;Name=lod=47 NA 11p15.1 Score=880;Name=V$NFKAPPAB50_01 Name=Rad21,CTCF,CTCF_(C-20) Name=4 NA rs10832975 0.35 0.35 0.318 0.360024 0.3897 0.3224 0.5187 0.171 0.5112 0.41 0.31 0.51 0.19 0.4102 0.51 1 T 0.0 B 0.0 B 0.092 N 1.000 P -2.68 N 0.37 T -0.895 T 0.000 T 0.106 0.617 7.324 4.39 0.606 5.417 13.175 0.617487 NA 1 0.393691 0.217118 ID=COSM428799,COSM428800;OCCURENCE=1(breast) 0.442 NA 12.1397424 441 12 1553797 1553797 A G exonic ERC1 NA nonsynonymous SNV ERC1:NM_178039:exon17:c.A3010G:p.T1004A,ERC1:NM_178040:exon18:c.A3094G:p.T1032A exonic ENSG00000082805 NA nonsynonymous SNV ENSG00000082805:ENST00000355446:exon17:c.A3094G:p.T1032A,ENSG00000082805:ENST00000543086:exon17:c.A3010G:p.T1004A,ENSG00000082805:ENST00000589028:exon17:c.A3094G:p.T1032A,ENSG00000082805:ENST00000360905:exon18:c.A3094G:p.T1032A,ENSG00000082805:ENST00000397203:exon18:c.A3094G:p.T1032A,ENSG00000082805:ENST00000546231:exon20:c.A3106G:p.T1036A Score=703;Name=lod=957 NA 12p13.33 Score=914;Name=V$USF_02 NA NA NA rs12319376 0.16 0.16 0.169 0.189297 0.0567 0.006 0.0994 0.587 0.0409 0.05 0.01 0.09 0.55 0.0907 0.55 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.55 N 2.11 T -0.950 T 0.000 T 0.089 0.203 5.093 4.56 1.368 3.033 12.242 0.202824 NA 1 0.052674 0.543804 NA 0.232 NA 12.1332594 441 14 75230953 75230953 C T exonic YLPM1 NA nonsynonymous SNV YLPM1:NM_019589:exon1:c.C761T:p.P254L exonic ENSG00000119596 NA nonsynonymous SNV ENSG00000119596:ENST00000238571:exon1:c.C761T:p.P254L,ENSG00000119596:ENST00000325680:exon1:c.C761T:p.P254L,ENSG00000119596:ENST00000552421:exon1:c.C761T:p.P254L Score=530;Name=lod=190 NA 14q24.3 NA NA Name=73 NA rs45599947 0.03 0.03 0.027 0.0267572 0.0736 0.001 0.0288 0.0015 0.0378 0.08 NA 0.03 0.002 0.0544 0.08 0.69 T 0.004 B 0.01 B 0.089 N 0.962 N 0 N 2.04 T -1.027 T 0.002 T 0.085 -0.088 3.571 4.31 2.218 2.015 12.174 -0.087629 NA 0.07 0.073705 0.016241 NA 0.087 NA 12.1316284 442 19 39229089 39229089 A G exonic CAPN12 NA nonsynonymous SNV CAPN12:NM_144691:exon7:c.T859C:p.C287R exonic ENSG00000182472 NA nonsynonymous SNV ENSG00000182472:ENST00000601953:exon6:c.T412C:p.C138R,ENSG00000182472:ENST00000328867:exon7:c.T859C:p.C287R Score=470;Name=lod=108 NA 19q13.2 Score=774;Name=V$PAX5_01 NA NA NA rs12983010 0.1 0.1 0.072 0.113219 0.0646 0.0982 0.1326 0.1483 0.1176 0.07 0.12 0.1 0.14 0.081 0.14 0.44 T 0.0 B 0.0 B 0.031 N 0.873 P -2.135 N -2.15 D -1.012 T 0.002 T 0.06 1.122 9.575 5.02 1.272 0.179 7.656 1.122059 NA 0.5 0.063968 0.110732 NA 0.123 NA 12.1237654 442 11 64009879 64009879 G A exonic FKBP2 NA nonsynonymous SNV FKBP2:NM_001135208:exon2:c.G20A:p.R7Q,FKBP2:NM_004470:exon2:c.G20A:p.R7Q,FKBP2:NM_057092:exon2:c.G20A:p.R7Q exonic ENSG00000173486 NA nonsynonymous SNV ENSG00000173486:ENST00000309366:exon2:c.G20A:p.R7Q,ENSG00000173486:ENST00000394540:exon2:c.G20A:p.R7Q,ENSG00000173486:ENST00000449942:exon2:c.G20A:p.R7Q,ENSG00000173486:ENST00000535135:exon2:c.G20A:p.R7Q Score=510;Name=lod=158 NA 11q13.1 NA Name=ELF1_(SC-631),Pol2,Pol2-4H8 Name=72 NA rs4672 0.03 0.03 0.027 0.0249601 0.0736 NA 0.0533 0.0038 0.0092 0.06 NA 0.06 NA 0.0569 0.08 0.3 T 0.0 B 0.0 B 0.443 N 1.000 N 0 N 1.27 T -1.047 T 0.003 T 0.071 1.926 12.4 2.3 0.931 -1.217 5.793 1.925613 1.925613 0.63 0.079474 0.016583 NA 0.022 NA 12.1233594 442 12 11183108 11183108 G C exonic TAS2R31 NA nonsynonymous SNV TAS2R31:NM_176885:exon1:c.C827G:p.P276R exonic ENSG00000256436 NA nonsynonymous SNV ENSG00000256436:ENST00000390675:exon1:c.C827G:p.P276R NA NA 12p13.2 NA NA NA NA rs12318612 0.16 0.16 0.122 0.122604 0.2734 NA 0.2161 0.1051 0.0511 0.28 NA 0.2 0.14 0.1867 0.28 0 D 0.741 P 0.356 B . . 0.999 P 1.975 M -0.08 T -1.077 T 0.000 T 0.172 1.045 9.268 2.41 1.376 1.677 8.345 1.04489 NA NA 0.253585 0.124688 NA 0.094 NA 12.1196484 442 6 70961833 70961833 T C exonic COL9A1 NA nonsynonymous SNV COL9A1:NM_078485:exon22:c.A1133G:p.Q378R,COL9A1:NM_001851:exon28:c.A1862G:p.Q621R exonic ENSG00000112280 NA nonsynonymous SNV ENSG00000112280:ENST00000320755:exon22:c.A1133G:p.Q378R,ENSG00000112280:ENST00000370499:exon22:c.A1133G:p.Q378R,ENSG00000112280:ENST00000357250:exon28:c.A1862G:p.Q621R Score=374;Name=lod=44 NA 6q13 Score=866;Name=V$ELK1_01 NA NA NA rs1135056 0.35 0.35 0.323 0.326677 0.4274 0.2917 0.2522 0.3646 0.2607 0.42 0.26 0.3 0.39 0.3753 0.42 0.76 T 0.001 B 0.003 B 0.001 N 0.000 P -0.14 N -3.18 D -0.684 T 0.339 T 0.019 0.374 6.03 4.93 1.459 1.631 13.120 0.373878 NA 0.4 0.413837 0.347935 NA 0.464 NA 12.1167964 443 5 161128627 161128627 C T exonic GABRA6 NA nonsynonymous SNV GABRA6:NM_000811:exon9:c.C1210T:p.P404S exonic ENSG00000145863 NA nonsynonymous SNV ENSG00000145863:ENST00000274545:exon9:c.C1210T:p.P404S,ENSG00000145863:ENST00000523217:exon9:c.C1180T:p.P394S Score=358;Name=lod=38 NA 5q34 NA NA NA NA rs34907804 0.07 0.07 0.059 0.0728834 0.0765 NA 0.085 0.1369 0.0491 0.07 NA 0.11 0.13 0.0663 0.16 0.43 T 0.005 B 0.002 B 0.004 N 0.837 P 0.895 L -1.71 D -0.963 T 0.006 T 0.158 0.84 8.391 5.16 2.571 3.751 9.259 0.839816 NA 0.14 0.077442 0.122787 NA 0.152 NA 12.1130914 443 17 66364691 66364691 C G exonic ARSG NA nonsynonymous SNV ARSG:NM_001267727:exon7:c.C707G:p.T236S,ARSG:NM_014960:exon7:c.C707G:p.T236S exonic ENSG00000141337 NA nonsynonymous SNV ENSG00000141337:ENST00000452479:exon6:c.C215G:p.T72S,ENSG00000141337:ENST00000448504:exon7:c.C707G:p.T236S Score=417;Name=lod=66 NA 17q24.2 NA Name=AP-2alpha,AP-2gamma Name=5 NA rs1558876 0.29 0.29 0.255 0.275958 0.4076 0.126 0.3934 0.1914 0.3262 0.42 0.14 0.38 0.19 0.3784 0.44 0.18 T 0.026 B 0.023 B 0.372 N 0.994 P 0.41 N . . -0.972 T 0.000 T 0.1 -0.195 3.051 4.24 2.733 2.123 13.000 -0.195352 NA 0.23 0.438256 0.223332 NA 0.254 NA 12.1090774 443 4 42895308 42895308 G A exonic GRXCR1 NA nonsynonymous SNV GRXCR1:NM_001080476:exon1:c.G25A:p.E9K exonic ENSG00000215203 NA nonsynonymous SNV ENSG00000215203:ENST00000399770:exon1:c.G25A:p.E9K Score=329;Name=lod=29 NA 4p13 NA NA NA NA rs78136490 0.13 0.13 0.126 0.123203 0.0716 0.1567 0.0648 0.2307 0.0378 0.07 0.14 0.06 0.24 0.0883 0.24 0.38 T 0.155 B 0.014 B 0.001 U 0.002 P 1.59 L 1.23 T -1.045 T 0.000 T 0.16 1.769 11.87 4.99 1.451 5.087 16.148 1.769118 1.769118 0.02 0.065566 0.180473 NA 0.116 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036856.1;CLNDSDB=.;CLNDSDBID=. 12.1078674 443 11 111754574 111754574 A C exonic C11orf1 NA synonymous SNV C11orf1:NM_022761:exon4:c.A423C:p.S141S exonic ENSG00000137720 NA nonsynonymous SNV ENSG00000137720:ENST00000530214:exon3:c.A356C:p.Q119P Score=383;Name=lod=48 NA 11q23.1 Score=792;Name=V$OCT1_04 NA NA NA rs1045282 0.27 0.27 0.256 0.239617 0.3231 0.1905 0.3069 0.1952 0.2168 0.32 0.18 0.35 0.23 0.27 0.35 0.03 D . . . . . . 0.000 P . . 1.82 T -0.941 T 0.000 T . 1.389 10.58 4.22 1.017 1.708 5.789 1.389114 1.389114 NA 0.300093 0.218764 NA 0.304 NA 12.106807 443 1 64097432 64097432 C T exonic PGM1 NA nonsynonymous SNV PGM1:NM_001172818:exon4:c.C715T:p.R239C,PGM1:NM_001172819:exon4:c.C70T:p.R24C,PGM1:NM_002633:exon4:c.C661T:p.R221C exonic ENSG00000079739 NA nonsynonymous SNV ENSG00000079739:ENST00000371083:exon4:c.C715T:p.R239C,ENSG00000079739:ENST00000371084:exon4:c.C661T:p.R221C,ENSG00000079739:ENST00000540265:exon4:c.C70T:p.R24C Score=410;Name=lod=62 NA 1p31.3 NA NA NA NA rs1126728 0.24 0.24 0.212 0.241414 0.2505 0.2688 0.2478 0.1876 0.272 0.25 0.29 0.25 0.17 0.2428 0.29 0.26 T 0.679 P 0.143 B 0.000 D 0.000 P 1.015 L -0.0 T -0.970 T 0.107 T 0.567 4.263 22.2 5.75 2.885 2.557 20.327 4.263036 4.263036 0.23 0.234419 0.201089 NA 0.261 NA 12.1056144 444 1 93073228 93073228 C A exonic EVI5 NA nonsynonymous SNV EVI5:NM_005665:exon15:c.G1836T:p.Q612H exonic ENSG00000067208 NA nonsynonymous SNV ENSG00000067208:ENST00000370331:exon15:c.G1836T:p.Q612H,ENSG00000067208:ENST00000540033:exon15:c.G1836T:p.Q612H,ENSG00000067208:ENST00000543509:exon16:c.G1869T:p.Q623H Score=460;Name=lod=99 NA 1p22.1 NA NA NA NA rs11808092 0.15 0.15 0.141 0.123403 0.2744 0.0159 0.1873 0.0696 0.1063 0.27 0.02 0.22 0.06 0.1994 0.27 0.05 D 0.589 P 0.439 B 0.000 N 0.000 P 2.255 M 1.4 T -0.984 T 0.080 T 0.298 3.072 16.26 4.67 1.342 0.689 10.749 3.071826 3.071826 0.04 0.256571 0.10604 NA 0.239 NA 12.1029624 444 4 187539588 187539588 T C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon10:c.A8152G:p.I2718V exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon10:c.A8152G:p.I2718V Score=437;Name=lod=80 NA 4q35.2 NA NA NA NA rs3733406 0.07 0.07 0.071 0.0571086 0.0905 0.0268 0.049 0.0696 0.0429 0.1 0.03 0.07 0.06 0.0663 0.1 0.7 T 0.004 B 0.01 B 0.000 D 0.080 P -0.215 N 0.78 T -1.060 T 0.002 T 0.024 -0.242 2.835 5.0 2.225 1.644 8.607 -0.241701 NA 0.89 0.073848 0.069341 NA 0.051 NA 12.1026854 444 2 1499927 1499927 A C exonic TPO NA nonsynonymous SNV TPO:NM_175722:exon10:c.A1654C:p.T552P,TPO:NM_001206745:exon11:c.A2002C:p.T668P,TPO:NM_175719:exon11:c.A2002C:p.T668P,TPO:NM_175721:exon11:c.A2173C:p.T725P,TPO:NM_000547:exon12:c.A2173C:p.T725P,TPO:NM_001206744:exon12:c.A2173C:p.T725P exonic ENSG00000115705 NA nonsynonymous SNV ENSG00000115705:ENST00000469607:exon3:c.A595C:p.T199P,ENSG00000115705:ENST00000422464:exon9:c.A1960C:p.T654P,ENSG00000115705:ENST00000382198:exon10:c.A1654C:p.T552P,ENSG00000115705:ENST00000349624:exon11:c.A1654C:p.T552P,ENSG00000115705:ENST00000382201:exon11:c.A2002C:p.T668P,ENSG00000115705:ENST00000329066:exon12:c.A2173C:p.T725P,ENSG00000115705:ENST00000337415:exon12:c.A2173C:p.T725P,ENSG00000115705:ENST00000345913:exon12:c.A2173C:p.T725P,ENSG00000115705:ENST00000346956:exon12:c.A2173C:p.T725P Score=259;Name=lod=15 NA 2p25.3 NA Name=AP-2gamma Name=7 NA rs732609 0.47 0.47 0.482 0.498403 0.4026 0.4087 0.438 0.6498 0.5276 0.39 0.43 0.43 0.67 0.428 0.67 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.755 N -0.5 T -0.913 T 0.000 T 0.408 -1.591 0.014 4.39 0.993 3.471 11.196 -1.590934 NA 1 0.400116 0.607354 NA 0.449 NA 12.1026174 444 17 47783663 47783663 C T exonic SLC35B1 NA nonsynonymous SNV SLC35B1:NM_005827:exon3:c.G242A:p.R81H exonic ENSG00000121073 NA nonsynonymous SNV ENSG00000121073:ENST00000511763:exon2:c.G113A:p.R38H,ENSG00000121073:ENST00000240333:exon3:c.G242A:p.R81H,ENSG00000121073:ENST00000415270:exon3:c.G353A:p.R118H,ENSG00000121073:ENST00000507773:exon3:c.G217A:p.V73I,ENSG00000121073:ENST00000511657:exon3:c.G41A:p.R14H,ENSG00000121073:ENST00000514907:exon3:c.G149A:p.R50H,ENSG00000121073:ENST00000503334:exon4:c.G41A:p.R14H,ENSG00000121073:ENST00000508520:exon4:c.G251A:p.R84H,ENSG00000121073:ENST00000515850:exon4:c.G344A:p.R115H Score=693;Name=lod=876 NA 17q21.33 NA NA NA NA rs1135034 0.05 0.05 0.053 0.0519169 0.0865 NA 0.036 0.1006 0.0153 0.08 NA 0.05 0.07 0.0628 0.086 0.13 T 0.014 B 0.013 B 0.000 D 0.000 P 0.15 N 1.54 T -0.990 T 0.007 T 0.327 2.582 14.6 4.77 2.465 4.511 17.599 2.582492 2.582492 0.21 0.085233 0.085792 NA 0.043 NA 12.0988004 444 2 228128568 228128568 G A exonic COL4A3 NA nonsynonymous SNV COL4A3:NM_000091:exon21:c.G1223A:p.R408H exonic ENSG00000169031 NA nonsynonymous SNV ENSG00000169031:ENST00000396578:exon21:c.G1223A:p.R408H Score=343;Name=lod=33 NA 2q36.3 NA NA NA NA rs34505188 0.1 0.1 0.063 0.100639 0.0686 0.1577 0.1772 0.028 0.1186 0.06 0.15 0.16 0.03 0.091 0.16 0.3 T 0.999 D 0.912 D 0.019 N 0.998 P 0.98 L -3.33 D -0.722 T 0.010 T 0.111 0.886 8.597 2.07 0.456 0.671 2.641 0.88596 NA 0.16 0.077036 0.033011 NA 0.051 NA 12.0966974 444 15 100269680 100269680 G C exonic LYSMD4 NA nonsynonymous SNV LYSMD4:NM_152449:exon6:c.C542G:p.A181G exonic ENSG00000183060 NA nonsynonymous SNV ENSG00000183060:ENST00000409796:exon3:c.C539G:p.A180G,ENSG00000183060:ENST00000332728:exon4:c.C539G:p.A180G,ENSG00000183060:ENST00000545021:exon4:c.C161G:p.A54G,ENSG00000183060:ENST00000344791:exon6:c.C542G:p.A181G Score=309;Name=lod=24 NA 15q26.3 NA NA NA NA rs2061007 0.42 0.42 0.389 0.38119 0.5905 0.374 0.451 0.0726 0.5409 0.61 0.39 0.49 0.1 0.5391 0.61 0.21 T 0.996 D 0.852 P 0.000 D 0.372 P 2.38 M 1.99 T -0.937 T 0.000 T 0.199 1.963 12.52 2.2 0.183 1.382 10.647 1.962662 1.962662 0.23 0.608372 0.15842 NA 0.442 NA 12.0953614 445 21 46066764 46066764 C T exonic KRTAP10-11 NA nonsynonymous SNV KRTAP10-11:NM_198692:exon1:c.C389T:p.S130F exonic ENSG00000243489 NA nonsynonymous SNV ENSG00000243489:ENST00000334670:exon1:c.C389T:p.S130F Score=251;Name=lod=14 NA 21q22.3 NA NA NA NA rs4818952 0.76 0.76 0.742 0.777356 0.7694 0.6548 0.7493 0.8896 0.7802 0.77 0.63 0.77 0.89 0.7484 0.89 0 D 1.0 D 0.999 D . . 0.000 P 3.325 M 4.52 T -1.103 T 0.000 T 0.233 1.79 11.95 3.32 1.583 0.618 10.528 1.790471 1.790471 0.01 0.722791 0.865411 NA 0.543 NA 12.0927424 445 9 107562804 107562804 T C exonic ABCA1 NA nonsynonymous SNV ABCA1:NM_005502:exon35:c.A4760G:p.K1587R exonic ENSG00000165029 NA nonsynonymous SNV ENSG00000165029:ENST00000374736:exon35:c.A4760G:p.K1587R Score=614;Name=lod=418 NA 9q31.1 NA NA Name=3 NA rs2230808 0.59 0.59 0.559 0.538339 0.7922 0.5883 0.7478 0.1324 0.6258 0.79 0.61 0.71 0.17 0.6936 0.79 1 T 0.018 B 0.034 B 0.000 D 0.000 P 0.19 N -2.23 D -0.978 T 0.000 T 0.235 1.465 10.84 5.93 2.271 5.978 16.380 1.465085 1.465085 0.54 0.760465 0.242624 NA 0.522 NA 12.0870684 445 11 4945196 4945196 T G exonic OR51G1 NA nonsynonymous SNV OR51G1:NM_001005237:exon1:c.A374C:p.Y125S exonic ENSG00000176879 NA nonsynonymous SNV ENSG00000176879:ENST00000321961:exon1:c.A374C:p.Y125S Score=371;Name=lod=43 NA 11p15.4 Score=794;Name=V$PPARG_01 NA NA NA rs1378739 0.66 0.66 0.664 0.657348 0.5686 0.7222 0.6484 0.7231 0.5992 0.55 0.72 0.67 0.76 0.5993 0.76 0 D 0.761 P 0.247 B 0.059 U 0.000 P 2.85 M 0.4 T -0.966 T 0.000 T 0.338 1.063 9.34 2.99 1.760 0.375 9.016 1.062863 NA 0 0.579921 0.699228 NA 0.659 NA 12.0855124 446 4 69681936 69681936 G T exonic UGT2B10 NA nonsynonymous SNV UGT2B10:NM_001075:exon1:c.G199T:p.D67Y,UGT2B10:NM_001144767:exon1:c.G199T:p.D67Y exonic ENSG00000109181 NA nonsynonymous SNV ENSG00000109181:ENST00000265403:exon1:c.G199T:p.D67Y,ENSG00000109181:ENST00000458688:exon1:c.G199T:p.D67Y NA NA 4q13.2 NA Name=HEY1 NA NA rs61750900 0.05 0.05 0.046 0.0439297 0.0915 0.001 0.072 0.0356 0.0307 0.1 NA 0.07 0.03 0.0655 0.1 0.02 D 0.937 P 0.746 P 0.397 U 1.000 P 1.1 L 3.32 T -1.026 T 0.006 T 0.044 0.171 4.922 -4.37 -1.398 -0.013 1.778 0.171385 NA 0.03 0.091671 0.041761 NA 0.094 NA 12.0846624 446 10 64415184 64415184 A G exonic ZNF365 NA nonsynonymous SNV ZNF365:NM_199452:exon4:c.A184G:p.T62A exonic ENSG00000138311 NA nonsynonymous SNV ENSG00000138311:ENST00000395251:exon4:c.A184G:p.T62A NA Name=Crohn's disease 10q21.2 NA Name=SRF,NFKB,Pol2-4H8,Pol2 NA NA rs7076156 0.85 0.85 0.865 0.871206 0.7266 0.8968 0.8329 0.9826 0.8701 0.73 0.91 0.81 0.97 0.7939 0.97 0 D 0.0 B 0.001 B . . 1.000 P 0 N 0.71 T -0.989 T 0.000 T 0.078 0.099 4.534 -6.85 -2.089 -2.262 10.440 0.099119 NA 0.8 0.733837 0.945756 NA 0.841 CLINSIG=other;CLNDBN=Uric_acid_nephrolithiasis\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000002951.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2700426:605990 12.0789964 446 14 21623836 21623836 G A exonic OR5AU1 NA nonsynonymous SNV OR5AU1:NM_001004731:exon1:c.C349T:p.L117F exonic ENSG00000169327 NA nonsynonymous SNV ENSG00000169327:ENST00000304418:exon1:c.C349T:p.L117F Score=475;Name=lod=114 NA 14q11.2 NA NA NA NA rs4982419 0.65 0.65 0.66 0.664736 0.7624 0.4851 0.6916 0.6702 0.7229 0.75 0.47 0.72 0.66 0.7147 0.78 0.01 D 1.0 D 1.0 D . . 0.000 P 1.22 L 6.89 T -1.212 T 0.000 T 0.3 2.471 14.22 4.34 2.265 0.954 14.412 2.471261 2.471261 0.03 0.779767 0.665456 NA 0.674 NA 12.0764664 446 9 32526146 32526146 G A exonic DDX58 NA nonsynonymous SNV DDX58:NM_014314:exon1:c.C19T:p.R7C exonic ENSG00000107201 NA nonsynonymous SNV ENSG00000107201:ENST00000379882:exon1:c.C19T:p.R7C,ENSG00000107201:ENST00000379883:exon1:c.C19T:p.R7C NA NA 9p21.1 NA Name=Pol2,TAF1,GATA-1,TBP,c-Myc,STAT2,HEY1,NFKB,STAT3,HA-E2F1,Sin3Ak-20,Pol2-4H8 Name=144 NA rs10813831 0.19 0.19 0.197 0.184105 0.2773 0.1052 0.1628 0.2073 0.1534 0.27 0.07 0.19 0.2 0.2228 0.27 0 D 0.998 D 0.736 P 0.560 N 1.000 P 1.78 L 3.4 T -0.978 T 0.000 T 0.146 2.744 15.14 -2.08 -0.381 -0.144 8.097 2.743956 2.743956 0 0.257326 0.231049 NA 0.123 NA 12.0759074 447 9 36169723 36169723 G A exonic CCIN NA nonsynonymous SNV CCIN:NM_005893:exon1:c.G224A:p.S75N exonic ENSG00000185972 NA nonsynonymous SNV ENSG00000185972:ENST00000335119:exon1:c.G224A:p.S75N Score=542;Name=lod=213 NA 9p13.3 Score=801;Name=V$PPARG_01 NA NA NA rs34789048 0.06 0.06 0.07 0.0555112 0.0934 NA 0.0375 0.0779 0.0562 0.09 NA 0.04 0.1 0.0715 0.1 0.74 T 0.0 B 0.0 B 0.018 N 0.998 N 0.3 N -0.26 T -1.122 T 0.004 T 0.012 -1.249 0.051 3.26 0.957 2.016 6.056 -1.248935 NA 0.77 0.094302 0.089877 NA 0.087 NA 12.0741314 448 1 77685042 77685042 T C exonic PIGK NA nonsynonymous SNV PIGK:NM_005482:exon1:c.A46G:p.T16A exonic ENSG00000142892 NA nonsynonymous SNV ENSG00000142892:ENST00000359130:exon1:c.A46G:p.T16A,ENSG00000142892:ENST00000370812:exon1:c.A46G:p.T16A,ENSG00000142892:ENST00000370813:exon1:c.A46G:p.T16A,ENSG00000142892:ENST00000445065:exon1:c.A46G:p.T16A NA NA 1p31.1 NA Name=CTCF,THAP1_(SC-98174),TBP,CEBPB,IRF1,GTF2F1_(RAP-74),Max,c-Myc,ELF1_(SC-631),FOXA1_(SC-101058),HEY1,ZEB1_(SC-25388),NFKB,Oct-2,Pol2,ATF3,Pol2(phosphoS2),Ini1,STAT3,YY1,Egr-1,YY1_(C-20),Sin3Ak-20,TAF7_(SQ-8),USF1_(SC-8983),c-Fos,Pol2-4H8,Pol2(b),TAF1,GATA-1,ETS1,FOXA1_(C-20),E2F4,POU2F2 Name=148 NA rs12723684 0.17 0.17 0.159 0.191693 0.0706 0.0387 0.2305 0.4644 0.0777 0.06 0.04 0.19 0.45 0.1228 0.45 0.62 T 0.0 B 0.0 B 0.309 N 1.000 P -0.55 N 1.0 T -1.014 T 0.019 T 0.013 0.012 4.075 4.58 1.549 1.006 9.016 0.011714 NA 0 0.077227 0.379709 NA 0.196 NA 12.0627064 448 8 53537316 53537316 A G exonic RB1CC1 NA synonymous SNV RB1CC1:NM_001083617:exon23:c.T4659C:p.L1553L,RB1CC1:NM_014781:exon23:c.T4668C:p.L1556L exonic ENSG00000023287 NA synonymous SNV ENSG00000023287:ENST00000539297:exon21:c.T4659C:p.L1553L,ENSG00000023287:ENST00000025008:exon23:c.T4668C:p.L1556L,ENSG00000023287:ENST00000435644:exon23:c.T4659C:p.L1553L Score=625;Name=lod=462 NA 8q11.23 NA NA NA NA rs1129660 0.32 0.32 0.299 0.285343 0.2058 0.6558 0.3184 0.0794 0.2403 0.21 0.69 0.28 0.11 0.2329 0.69 0 D . . . . 0.000 D 0.000 P . . . . -0.904 T 0.000 T . 1.105 9.506 4.21 2.154 1.334 1.776 1.10458 NA NA 0.166085 0.088289 NA 0.304 NA 12.0618816 448 8 145001031 145001031 T C exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon30:c.A3923G:p.H1308R,PLEC:NM_201379:exon30:c.A3899G:p.H1300R,PLEC:NM_201380:exon30:c.A4376G:p.H1459R,PLEC:NM_201381:exon30:c.A3869G:p.H1290R,PLEC:NM_201382:exon30:c.A3965G:p.H1322R,PLEC:NM_201383:exon30:c.A3977G:p.H1326R,PLEC:NM_201384:exon30:c.A3965G:p.H1322R,PLEC:NM_000445:exon31:c.A4046G:p.H1349R exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon30:c.A4376G:p.H1459R,ENSG00000178209:ENST00000345136:exon30:c.A3965G:p.H1322R,ENSG00000178209:ENST00000354589:exon30:c.A3965G:p.H1322R,ENSG00000178209:ENST00000354958:exon30:c.A3899G:p.H1300R,ENSG00000178209:ENST00000356346:exon30:c.A3923G:p.H1308R,ENSG00000178209:ENST00000357649:exon30:c.A3977G:p.H1326R,ENSG00000178209:ENST00000398774:exon30:c.A3869G:p.H1290R,ENSG00000178209:ENST00000527096:exon30:c.A4034G:p.H1345R,ENSG00000178209:ENST00000436759:exon31:c.A4046G:p.H1349R Score=376;Name=lod=45 NA 8q24.3 NA NA Name=4 NA rs55895668 0.45 0.45 0.488 0.466653 0.4344 0.1429 0.3674 0.8782 0.3476 0.42 0.16 0.38 0.86 0.4128 0.86 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.935 N 1.71 T -1.000 T 0.000 T 0.273 0.865 8.506 3.9 1.009 1.623 7.478 0.865407 NA 1 0.429375 0.822767 ID=COSM150562,COSM150563;OCCURENCE=1(stomach) 0.543 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117968.2;CLNDSDB=.;CLNDSDBID=. 12.0567584 449 4 89311962 89311962 T C exonic HERC6 NA nonsynonymous SNV HERC6:NM_001165136:exon4:c.T595C:p.C199R,HERC6:NM_017912:exon4:c.T595C:p.C199R exonic ENSG00000138642 NA nonsynonymous SNV ENSG00000138642:ENST00000264346:exon4:c.T595C:p.C199R,ENSG00000138642:ENST00000273960:exon4:c.T595C:p.C199R,ENSG00000138642:ENST00000380265:exon4:c.T595C:p.C199R Score=567;Name=lod=268 NA 4q22.1 Score=768;Name=V$TCF11MAFG_01 NA NA NA rs12510688 0.09 0.09 0.066 0.0822684 0.0934 0.1181 0.1844 0.0038 0.0675 0.1 0.09 0.19 0.01 0.0966 0.19 0.02 D 0.202 B 0.19 B 0.007 N 0.001 P 0.07 N -1.29 T -1.019 T 0.001 T 0.402 3.678 18.69 3.42 0.873 5.565 9.622 3.678447 3.678447 0 0.089767 0.021788 NA 0.058 NA 12.0535664 449 9 130165973 130165973 T C exonic SLC2A8 NA nonsynonymous SNV SLC2A8:NM_001271712:exon4:c.T269C:p.I90T,SLC2A8:NM_001271711:exon6:c.T758C:p.I253T,SLC2A8:NM_014580:exon6:c.T758C:p.I253T exonic ENSG00000136856 NA nonsynonymous SNV ENSG00000136856:ENST00000430147:exon3:c.T275C:p.I92T,ENSG00000136856:ENST00000423934:exon4:c.T353C:p.I118T,ENSG00000136856:ENST00000451404:exon4:c.T269C:p.I90T,ENSG00000136856:ENST00000419917:exon5:c.T551C:p.I184T,ENSG00000136856:ENST00000373360:exon6:c.T758C:p.I253T,ENSG00000136856:ENST00000373371:exon6:c.T758C:p.I253T Score=441;Name=lod=83 NA 9q33.3 NA NA NA NA rs34064803 0.06 0.06 0.047 0.0453275 0.1054 NA 0.0821 0.0272 0.0286 0.1 NA 0.09 0.03 0.0715 0.1 0.37 T 0.878 P 0.661 P 0.016 N 0.000 P 0.82 L -0.82 T -0.903 T 0.015 T 0.532 3.465 17.75 5.42 2.063 7.338 14.460 3.465299 3.465299 0 0.103023 0.03064 NA 0.036 NA 12.0534104 449 19 54744799 54744799 G C exonic LILRA6 NA nonsynonymous SNV LILRA6:NM_024318:exon5:c.C863G:p.P288R exonic ENSG00000244482 NA nonsynonymous SNV ENSG00000244482:ENST00000245621:exon5:c.C863G:p.P288R,ENSG00000244482:ENST00000396365:exon5:c.C863G:p.P288R,ENSG00000244482:ENST00000419410:exon5:c.C863G:p.P288R,ENSG00000244482:ENST00000440558:exon5:c.C863G:p.P288R NA NA 19q13.42 NA NA NA NA rs1052975 0.18 0.18 0.091 NA NA NA NA NA NA 0.21 0.22 0.15 0.14 0.2825 0.22 0.88 T 0.991 D 0.932 D 0.000 N 1.000 N 0.005 N 2.62 T -0.903 T 0.000 T 0.15 -1.431 0.021 -4.75 -4.910 -3.366 3.320 -1.430762 NA 0.69 NA NA NA 0.007 NA 12.0508334 449 11 60704213 60704213 C T exonic TMEM132A NA nonsynonymous SNV TMEM132A:NM_017870:exon11:c.C2909T:p.A970V,TMEM132A:NM_178031:exon11:c.C2906T:p.A969V exonic ENSG00000006118 NA nonsynonymous SNV ENSG00000006118:ENST00000005286:exon11:c.C2909T:p.A970V,ENSG00000006118:ENST00000453848:exon11:c.C2906T:p.A969V Score=439;Name=lod=81 NA 11q12.2 Score=829;Name=V$HNF4_01 NA NA NA rs2469887 0.41 0.41 0.431 0.421925 0.4225 0.3165 0.4467 0.4735 0.4427 0.42 0.32 0.45 0.47 0.4304 0.51 0 D 0.098 B 0.008 B 0.026 N 0.890 P 1.845 L 3.28 T -0.924 T 0.000 T 0.099 2.128 13.07 3.7 1.312 4.120 5.148 2.127516 2.127516 0.01 0.430565 0.466863 NA 0.493 NA 12.0498684 449 17 1782952 1782952 A G exonic RPA1 NA nonsynonymous SNV RPA1:NM_002945:exon11:c.A1051G:p.T351A exonic ENSG00000132383 NA nonsynonymous SNV ENSG00000132383:ENST00000574049:exon3:c.A319G:p.T107A,ENSG00000132383:ENST00000254719:exon11:c.A1051G:p.T351A Score=419;Name=lod=67 NA 17p13.3 Score=817;Name=V$PBX1_02 NA NA NA rs5030755 0.04 0.04 0.042 0.0291534 0.1024 NA 0.0202 0.0045 0.0235 0.11 NA 0.03 0.0041 0.0742 0.11 0.53 T 0.0 B 0.001 B 0.005 N 0.995 P 0.865 L 2.37 T -1.008 T 0.001 T 0.09 0.478 6.596 5.93 2.273 4.639 10.181 0.478367 NA 0.78 0.110116 0.021108 NA 0.043 NA 12.0466174 449 4 119952955 119952955 C T exonic SYNPO2 NA nonsynonymous SNV SYNPO2:NM_001128933:exon4:c.C3025T:p.R1009W,SYNPO2:NM_001128934:exon4:c.C3025T:p.R1009W,SYNPO2:NM_133477:exon4:c.C3025T:p.R1009W exonic ENSG00000172403 NA nonsynonymous SNV ENSG00000172403:ENST00000307142:exon4:c.C3025T:p.R1009W,ENSG00000172403:ENST00000429713:exon4:c.C3025T:p.R1009W,ENSG00000172403:ENST00000434046:exon4:c.C3025T:p.R1009W NA NA 4q26 NA Name=FOXA2_(SC-6554),FOXA1_(C-20) NA NA rs61732241 0.05 0.05 0.04 0.0359425 0.1113 0.001 0.0562 0.0023 0.0256 0.11 NA 0.05 0.0041 0.0746 0.11 . . 1.0 D 0.936 D 0.046 N 1.000 P 1.79 L 2.98 T -1.101 T 0.001 T 0.201 0.935 8.808 3.41 0.538 -2.009 8.293 0.934621 NA 0.01 0.101512 0.019746 NA 0.065 NA 12.0459214 450 13 28624294 28624294 G A exonic FLT3 NA nonsynonymous SNV FLT3:NM_004119:exon6:c.C680T:p.T227M exonic ENSG00000122025 NA nonsynonymous SNV ENSG00000122025:ENST00000241453:exon6:c.C680T:p.T227M,ENSG00000122025:ENST00000380982:exon6:c.C680T:p.T227M,ENSG00000122025:ENST00000380987:exon6:c.C680T:p.T227M,ENSG00000122025:ENST00000537084:exon6:c.C680T:p.T227M Score=496;Name=lod=138 NA 13q12.2 NA NA Name=6 NA rs1933437 0.57 0.57 0.554 0.558706 0.5805 0.7688 0.6066 0.2844 0.6564 0.58 0.75 0.61 0.3 0.5988 0.75 0.15 T 0.999 D 0.879 P 0.001 D 0.509 P 0.895 L -1.03 T -0.903 T 0.000 T 0.334 1.942 12.45 3.85 0.687 3.696 11.157 1.941805 1.941805 0 0.614884 0.343395 NA 0.486 NA 12.0391494 450 2 228855866 228855866 G C exonic SPHKAP NA nonsynonymous SNV SPHKAP:NM_030623:exon10:c.C4722G:p.S1574R,SPHKAP:NM_001142644:exon11:c.C4809G:p.S1603R exonic ENSG00000153820 NA nonsynonymous SNV ENSG00000153820:ENST00000344657:exon10:c.C4722G:p.S1574R,ENSG00000153820:ENST00000392056:exon11:c.C4809G:p.S1603R NA NA 2q36.3 Score=849;Name=V$OLF1_01 NA NA NA rs16824283 0.2 0.2 0.164 0.175519 0.3022 0.2282 0.1931 0.0303 0.1748 0.29 0.21 0.21 0.03 0.2227 0.29 0.04 D 0.966 D 0.787 P 0.001 D 1.000 P 1.52 L 3.28 T -1.030 T 0.000 T 0.07 1.699 11.64 -2.19 -0.511 0.210 13.899 1.699048 1.699048 0.09 0.269535 0.067181 ID=COSM1406006,COSM1406005;OCCURENCE=1(large_intestine) 0.225 NA 12.0388984 450 11 49080565 49080565 A C exonic TRIM64C NA nonsynonymous SNV TRIM64C:NM_001206631:exon1:c.T100G:p.F34V exonic ENSG00000214891 NA nonsynonymous SNV ENSG00000214891:ENST00000530230:exon1:c.T100G:p.F34V Score=378;Name=lod=46 NA 11p11.12 NA NA NA NA rs7932738 0.17 0.17 0.142 0.180511 0.1352 0.1607 0.1268 0.3185 0.0992 0.14 0.16 0.12 0.29 0.1603 0.29 0.02 D . . . . . . 0.997 P 2.36 M 1.44 T -1.038 T 0.000 T 0.666 2.613 14.7 1.55 0.994 4.322 5.259 2.612876 2.612876 0 NA NA ID=COSM147195;OCCURENCE=1(stomach) 0.181 NA 12.0378334 450 6 31129707 31129707 C T exonic TCF19 NA nonsynonymous SNV TCF19:NM_001077511:exon3:c.C722T:p.P241L,TCF19:NM_007109:exon3:c.C722T:p.P241L exonic ENSG00000137310 NA nonsynonymous SNV ENSG00000137310:ENST00000542218:exon1:c.C482T:p.P161L,ENSG00000137310:ENST00000376255:exon3:c.C722T:p.P241L,ENSG00000137310:ENST00000376257:exon3:c.C722T:p.P241L NA NA 6p21.33 NA NA Name=4 NA rs2073724 0.09 0.09 0.065 0.0810703 0.1123 0.0347 0.1383 0.0666 0.0757 0.12 0.04 0.15 0.06 0.099 0.15 0.33 T 0.906 P 0.521 P 0.408 N 1.000 P 1.61 L 1.96 T -1.097 T 0.034 T 0.099 2.111 13.01 3.56 2.573 0.980 7.417 2.110858 2.110858 0.19 0.085552 0.053318 NA 0.051 NA 12.0364814 450 11 102562700 102562700 C T exonic MMP27 NA nonsynonymous SNV MMP27:NM_022122:exon10:c.G1339A:p.D447N exonic ENSG00000137675 NA nonsynonymous SNV ENSG00000137675:ENST00000260229:exon10:c.G1339A:p.D447N Score=507;Name=lod=153 NA 11q22.2 NA NA NA NA rs2509010 0.18 0.18 0.173 0.163738 0.2744 0.1081 0.2435 0.0696 0.1779 0.29 0.1 0.22 0.07 0.24 0.29 0.47 T 0.576 P 0.031 B 0.000 D 0.244 P 1.255 L 2.53 T -0.903 T 0.000 T 0.039 2.422 14.06 3.86 2.819 1.080 10.216 2.422247 2.422247 0.32 0.283636 0.107808 NA 0.138 NA 12.0352974 451 11 19077765 19077765 T C exonic MRGPRX2 NA nonsynonymous SNV MRGPRX2:NM_054030:exon2:c.A185G:p.N62S exonic ENSG00000183695 NA nonsynonymous SNV ENSG00000183695:ENST00000329773:exon2:c.A185G:p.N62S NA NA 11p15.1 Score=879;Name=V$IK3_01 Name=PU.1,Nrf1 NA NA rs10833049 0.32 0.32 0.293 0.31849 0.2614 0.2659 0.2781 0.5265 0.1789 0.25 0.25 0.28 0.52 0.2727 0.52 0.02 D 0.976 D 0.817 P 0.000 D 1.000 P 1.81 L 3.02 T -0.902 T 0.000 T 0.012 2.515 14.37 1.41 0.130 0.390 2.945 2.515471 2.515471 0.02 0.265898 0.471578 ID=COSM147163;OCCURENCE=1(stomach) 0.283 NA 12.0333354 451 6 29913037 29913037 G A exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon7:c.G1072A:p.V358M,HLA-A:NM_002116:exon7:c.G1072A:p.V358M exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376806:exon7:c.G1090A:p.V364M,ENSG00000206503:ENST00000376809:exon7:c.G1072A:p.V358M,ENSG00000206503:ENST00000396634:exon9:c.G1072A:p.V358M NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs1137631 0.19 0.19 0.153 NA NA NA NA NA NA 0.15 0.18 0.18 0.27 0.1569 0.27 0 D 0.999 D 0.998 D 0.837 U 1.000 P 3.015 M 4.12 T -1.088 T 0.019 T 0.385 0.142 4.763 0.003 -0.132 -0.040 5.556 0.141947 NA 0.09 0.145 0.209033 ID=COSM1442961;OCCURENCE=1(large_intestine) 0.101 NA 12.0314334 452 22 39147235 39147235 A C exonic SUN2 NA nonsynonymous SNV SUN2:NM_001199579:exon3:c.T266G:p.L89R,SUN2:NM_015374:exon3:c.T266G:p.L89R,SUN2:NM_001199580:exon4:c.T266G:p.L89R exonic ENSG00000100242 NA nonsynonymous SNV ENSG00000100242:ENST00000216064:exon3:c.T266G:p.L89R,ENSG00000100242:ENST00000405018:exon3:c.T266G:p.L89R,ENSG00000100242:ENST00000417332:exon3:c.T266G:p.L89R,ENSG00000100242:ENST00000433561:exon3:c.T266G:p.L89R,ENSG00000100242:ENST00000456894:exon3:c.T266G:p.L89R,ENSG00000100242:ENST00000405510:exon4:c.T266G:p.L89R,ENSG00000100242:ENST00000406622:exon4:c.T266G:p.L89R,ENSG00000100242:ENST00000411587:exon4:c.T371G:p.L124R,ENSG00000100242:ENST00000420859:exon4:c.T266G:p.L89R,ENSG00000100242:ENST00000438058:exon4:c.T266G:p.L89R,ENSG00000100242:ENST00000439339:exon4:c.T266G:p.L89R,ENSG00000100242:ENST00000452294:exon4:c.T266G:p.L89R NA NA 22q13.1 NA NA NA NA rs35496634 0.06 0.06 0.053 0.0347444 0.1243 NA 0.0461 0.0061 0.0092 0.14 NA 0.06 0.01 0.0764 0.14 0.04 D 0.952 P 0.598 P 0.002 N 0.977 P 0.695 N 2.49 T -1.047 T 0.002 T 0.332 0.773 8.085 4.01 1.917 2.683 9.571 0.773188 NA 0 0.111279 0.020654 NA 0.065 NA 12.0213544 452 16 77401545 77401545 A G exonic ADAMTS18 NA nonsynonymous SNV ADAMTS18:NM_199355:exon4:c.T571C:p.Y191H exonic ENSG00000140873 NA nonsynonymous SNV ENSG00000140873:ENST00000282849:exon4:c.T571C:p.Y191H,ENSG00000140873:ENST00000449265:exon4:c.T571C:p.Y191H Score=553;Name=lod=236 NA 16q23.1 NA NA NA NA rs11643211 0.36 0.36 0.331 0.366813 0.2495 0.5774 0.5187 0.2519 0.318 0.23 0.59 0.46 0.23 0.3157 0.59 0.53 T 0.599 P 0.345 B 0.000 D 0.000 P 1.21 L 3.39 T -1.062 T 0.000 T 0.568 3.252 16.91 4.72 1.980 6.985 13.538 3.251844 3.251844 0.08 0.248605 0.260464 NA 0.268 NA 12.0195284 452 2 17946243 17946243 A G exonic GEN1 NA nonsynonymous SNV GEN1:NM_001130009:exon4:c.A428G:p.N143S,GEN1:NM_182625:exon4:c.A428G:p.N143S exonic ENSG00000178295 NA nonsynonymous SNV ENSG00000178295:ENST00000317402:exon4:c.A428G:p.N143S,ENSG00000178295:ENST00000381254:exon4:c.A428G:p.N143S Score=366;Name=lod=41 NA 2p24.2 NA NA NA NA rs16981869 0.13 0.13 0.134 0.127995 0.1074 0.0337 0.1153 0.2436 0.0992 0.11 0.03 0.12 0.27 0.1045 0.27 0.03 D 0.812 P 0.553 P 0.011 N 0.000 P 1.18 L -0.45 T -1.083 T 0.000 T 0.048 2.946 15.82 3.32 0.435 6.885 8.027 2.946009 2.946009 0 0.102674 0.228779 NA 0.109 NA 12.0187594 452 3 130361856 130361856 G A exonic COL6A6 NA nonsynonymous SNV COL6A6:NM_001102608:exon30:c.G5216A:p.R1739Q exonic ENSG00000206384 NA nonsynonymous SNV ENSG00000206384:ENST00000358511:exon30:c.G5216A:p.R1739Q,ENSG00000206384:ENST00000453409:exon30:c.G5216A:p.R1739Q Score=458;Name=lod=97 NA 3q22.1 NA NA NA NA rs16830494 0.12 0.12 0.116 0.121206 0.0934 0.1855 0.1614 0.0461 0.1564 0.09 0.19 0.16 0.05 0.1243 0.19 0.04 D 0.272 B 0.032 B . . 0.733 P 1.67 L -2.63 D -0.992 T 0.002 T 0.132 2.809 15.35 3.06 0.387 1.703 9.697 2.808812 2.808812 0.05 0.097641 0.061867 NA 0.08 NA 12.0179924 452 2 28854958 28854958 C T exonic PLB1 NA nonsynonymous SNV PLB1:NM_001170585:exon54:c.C3920T:p.A1307V,PLB1:NM_153021:exon55:c.C3953T:p.A1318V exonic ENSG00000163803 NA nonsynonymous SNV ENSG00000163803:ENST00000541605:exon15:c.C848T:p.A283V,ENSG00000163803:ENST00000422425:exon54:c.C3920T:p.A1307V,ENSG00000163803:ENST00000327757:exon55:c.C3953T:p.A1318V NA NA 2p23.2 NA NA NA NA rs2199619 0.26 0.26 0.258 0.253395 0.2823 0.3204 0.1844 0.1921 0.2863 0.3 0.29 0.19 0.22 0.2672 0.3 0.11 T 0.993 D 0.766 P 0.125 N 0.997 P 2.06 M 1.4 T -1.049 T 0.000 T 0.518 3.349 17.28 4.49 1.290 2.540 9.892 3.349364 3.349364 0.04 0.266395 0.219246 NA 0.268 NA 12.0174384 453 11 56949691 56949691 G A exonic LRRC55 NA nonsynonymous SNV LRRC55:NM_001005210:exon1:c.G324A:p.M108I exonic ENSG00000183908 NA nonsynonymous SNV ENSG00000183908:ENST00000497933:exon1:c.G324A:p.M108I Score=352;Name=lod=36 NA 11q12.1 Score=834;Name=V$AHRARNT_01 NA NA NA rs12364102 0.07 0.07 0.07 0.0664936 0.1113 0.0714 0.0879 0.0144 0.0706 0.1 0.07 0.1 0.02 0.0902 0.12 0.11 T 0.002 B 0.004 B 0.154 N 0.002 P -0.77 N 1.01 T -1.098 T 0.001 T 0.089 2.902 15.67 4.89 1.455 4.049 13.596 2.901736 2.901736 0.05 0.122439 0.030895 NA 0.029 NA 12.0093944 454 1 156264000 156264000 G A exonic C1orf85 NA nonsynonymous SNV C1orf85:NM_001256605:exon3:c.C349T:p.P117S,C1orf85:NM_001256604:exon4:c.C607T:p.P203S,C1orf85:NM_001256608:exon4:c.C607T:p.P203S,C1orf85:NM_001256609:exon4:c.C364T:p.P122S,C1orf85:NM_144580:exon4:c.C607T:p.P203S exonic ENSG00000198715 NA nonsynonymous SNV ENSG00000198715:ENST00000368264:exon3:c.C349T:p.P117S,ENSG00000198715:ENST00000362007:exon4:c.C607T:p.P203S NA NA 1q22 NA NA NA NA rs10908496 0.21 0.21 0.178 0.199281 0.2694 0.2272 0.2738 0.0681 0.2229 0.27 0.24 0.23 0.07 0.2661 0.29 0.63 T 0.959 D 0.675 P 0.005 N 1.000 P 2.075 M 2.12 T -1.071 T 0.041 T 0.38 1.613 11.35 4.59 1.277 1.928 12.459 1.612711 1.612711 0.2 0.292907 0.096005 NA 0.196 NA 12.0049264 454 6 132203615 132203615 G A splicing ENPP1 NM_006208:exon21:c.2230+1G>A NA NA splicing ENSG00000197594 ENST00000360971:exon21:c.2230+1G>A,ENST00000513998:exon21:c.2204+1G>A NA NA Score=387;Name=lod=50 NA 6q23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 NA . . . . . . . . 1.000 D . . . . . . . . . 4.254 22.2 6.16 2.937 6.338 18.633 4.253761 4.253761 NA NA NA NA NA NA 11.9999918 454 4 165878621 165878621 G A exonic FAM218A NA stopgain FAM218A:NM_153027:exon1:c.G447A:p.W149X exonic ENSG00000250486 NA stopgain ENSG00000250486:ENST00000513876:exon1:c.G447A:p.W149X NA NA 4q32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001662 NA 0 D . . . . . . 1.000 N . . . . . . . . . 1.594 11.29 -2.48 -1.270 -0.507 0.078 1.593966 1.593966 0 NA NA NA NA NA 11.9999834 454 2 10186419 10186419 A G exonic KLF11 NA nonsynonymous SNV KLF11:NM_001177716:exon2:c.A134G:p.Q45R,KLF11:NM_001177718:exon2:c.A134G:p.Q45R,KLF11:NM_003597:exon2:c.A185G:p.Q62R exonic ENSG00000172059 NA nonsynonymous SNV ENSG00000172059:ENST00000305883:exon2:c.A185G:p.Q62R,ENSG00000172059:ENST00000401510:exon2:c.A134G:p.Q45R,ENSG00000172059:ENST00000440320:exon2:c.A134G:p.Q45R,ENSG00000172059:ENST00000448523:exon2:c.A134G:p.Q45R,ENSG00000172059:ENST00000535335:exon2:c.A134G:p.Q45R,ENSG00000172059:ENST00000540845:exon2:c.A134G:p.Q45R Score=540;Name=lod=209 NA 2p25.1 NA NA NA NA rs35927125 0.06 0.06 0.052 0.0579073 0.1233 0.003 0.072 0.034 0.0695 0.11 0.0017 0.1 0.03 0.0926 0.12 0.04 D 0.003 B 0.003 B 0.075 N 0.776 P 2.215 M 2.54 T -1.045 T 0.004 T 0.079 1.637 11.43 -0.464 -0.043 2.349 5.936 1.636632 1.636632 0.11 0.121395 0.042896 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117438.2;CLNDSDB=.;CLNDSDBID=. 11.9960384 455 2 238243464 238243464 C G exonic COL6A3 NA nonsynonymous SNV COL6A3:NM_057166:exon38:c.G7213C:p.A2405P,COL6A3:NM_057167:exon40:c.G8416C:p.A2806P,COL6A3:NM_004369:exon41:c.G9034C:p.A3012P exonic ENSG00000163359 NA nonsynonymous SNV ENSG00000163359:ENST00000472056:exon38:c.G7213C:p.A2405P,ENSG00000163359:ENST00000409809:exon39:c.G8416C:p.A2806P,ENSG00000163359:ENST00000346358:exon40:c.G8434C:p.A2812P,ENSG00000163359:ENST00000347401:exon40:c.G8431C:p.A2811P,ENSG00000163359:ENST00000353578:exon40:c.G8416C:p.A2806P,ENSG00000163359:ENST00000295550:exon41:c.G9034C:p.A3012P Score=371;Name=lod=43 NA 2q37.3 Score=830;Name=V$OLF1_01 Name=PAX5-C20 NA NA rs2270669 0.8 0.8 0.823 0.792332 0.7873 0.7312 0.67 0.9841 0.6881 0.78 0.74 0.7 0.97 0.7729 0.97 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.995 N 2.08 T -0.939 T 0.000 T 0.091 2.183 13.26 5.29 1.247 5.502 16.149 2.183382 2.183382 NA 0.778372 0.945756 NA 0.87 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081019.2;CLNDSDB=.;CLNDSDBID=. 11.9947614 455 9 27561628 27561628 T C exonic C9orf72 NA nonsynonymous SNV C9orf72:NM_001256054:exon5:c.A620G:p.N207S,C9orf72:NM_018325:exon5:c.A620G:p.N207S,C9orf72:NM_145005:exon5:c.A620G:p.N207S exonic ENSG00000147894 NA nonsynonymous SNV ENSG00000147894:ENST00000379995:exon5:c.A620G:p.N207S,ENSG00000147894:ENST00000379997:exon5:c.A620G:p.N207S,ENSG00000147894:ENST00000380003:exon5:c.A620G:p.N207S Score=633;Name=lod=496 NA 9p21.2 NA NA NA NA rs17769294 0.05 0.05 0.039 0.0491214 0.1083 0.001 0.0735 0.0189 0.0613 0.11 NA 0.07 0.02 0.1043 0.13 . . 0.0 B 0.003 B 0.000 D 0.000 P 1.7 L 0.96 T -1.083 T 0.001 T 0.048 2.602 14.66 4.95 2.330 1.986 9.708 2.602228 2.602228 0.07 0.126192 0.034044 NA 0.087 NA 11.9945414 455 3 40085760 40085760 G A exonic MYRIP NA synonymous SNV MYRIP:NM_015460:exon3:c.G330A:p.A110A exonic ENSG00000170011 NA nonsynonymous SNV ENSG00000170011:ENST00000396217:exon3:c.G200A:p.R67Q Score=489;Name=lod=129 NA 3p22.1 Score=797;Name=V$COMP1_01 Name=FOXA1_(C-20) NA NA rs56248790 0.0027 0.0027 NA 0.00219649 0.006 NA 0.0029 NA 0.0031 0.01 NA 0.0028 NA 0.0022 0.01 . . 0.017 B 0.002 B . . 1.000 D . . 2.0 T -1.012 T 0.018 T . 2.746 15.14 -10.9 -2.763 0.008 12.247 2.745583 2.745583 0.02 0.002209 0.001135 NA NA NA 11.989591 456 10 73550969 73550969 G A exonic CDH23 NA nonsynonymous SNV CDH23:NM_022124:exon45:c.G6130A:p.E2044K exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000224721:exon46:c.G6145A:p.E2049K Score=493;Name=lod=134 NA 10q22.1 NA NA NA NA rs10466026 0.35 0.35 0.324 0.332668 0.2763 0.5288 0.3473 0.261 0.2751 0.27 0.52 0.3 0.29 0.3111 0.52 0.78 T 0.635 P 0.32 B 0.002 N 0.000 P -0.665 N . . -1.032 T 0.000 T 0.232 4.131 21.3 5.91 2.793 2.222 11.484 4.130608 4.130608 1 0.262925 0.270473 ID=COSM146953;OCCURENCE=1(stomach),1(large_intestine) 0.333 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039237.1|RCV000124202.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.9830084 456 10 102056745 102056745 C T exonic PKD2L1 NA nonsynonymous SNV PKD2L1:NM_001253837:exon6:c.G1036A:p.V346I,PKD2L1:NM_016112:exon6:c.G1177A:p.V393I exonic ENSG00000107593 NA nonsynonymous SNV ENSG00000107593:ENST00000338519:exon5:c.G952A:p.V318I,ENSG00000107593:ENST00000318222:exon6:c.G1177A:p.V393I,ENSG00000107593:ENST00000353274:exon6:c.G1177A:p.V393I Score=537;Name=lod=203 NA 10q24.31 Score=923;Name=V$TCF11_01 NA NA NA rs2278842 0.12 0.12 0.104 0.119409 0.1193 0.1101 0.1542 0.1006 0.1299 0.11 0.11 0.15 0.09 0.1191 0.15 1 T 0.067 B 0.058 B 0.004 N 0.000 P 0.3 N -0.11 T -1.096 T 0.001 T 0.244 1.449 10.79 4.04 1.439 1.178 12.735 1.449311 1.449311 0.5 0.112093 0.088289 NA 0.065 NA 11.9828404 456 2 203765756 203765756 T C exonic WDR12 NA nonsynonymous SNV WDR12:NM_018256:exon3:c.A223G:p.I75V exonic ENSG00000138442 NA nonsynonymous SNV ENSG00000138442:ENST00000261015:exon3:c.A223G:p.I75V Score=652;Name=lod=594 NA 2q33.2 NA NA NA NA rs35212307 0.07 0.07 0.07 0.0459265 0.1302 0.0159 0.0735 0.0136 0.0143 0.14 0.02 0.09 0.01 0.0905 0.14 0.27 T 0.001 B 0.002 B 0.000 D 0.000 P 1.415 L 0.48 T -1.082 T 0.001 T 0.148 3.045 16.16 4.69 2.224 6.288 11.315 3.045462 3.045462 0.21 0.129884 0.033818 NA 0.036 NA 11.9827494 456 19 41292601 41292601 A T exonic RAB4B NA synonymous SNV RAB4B:NM_016154:exon6:c.A462T:p.T154T exonic ENSG00000167578,ENSG00000171570 NA nonsynonymous SNV ENSG00000167578:ENST00000378307:exon5:c.A307T:p.R103W NA NA 19q13.2 NA Name=ZNF263 NA NA rs35573002 0.05 0.05 0.054 0.0579073 NA NA 0.0216 0.208 NA NA NA 0.03 0.22 0.0172 0.22 0 D . . . . . . 1.000 N . . -0.7 T -1.010 T 0.000 T . -0.077 3.626 -8.58 -2.342 -3.624 0.306 -0.07657 NA 0.01 0.000581 0.174762 NA 0.043 NA 11.982219 456 7 120969769 120969769 G A exonic WNT16 NA nonsynonymous SNV WNT16:NM_016087:exon2:c.G214A:p.G72R,WNT16:NM_057168:exon2:c.G244A:p.G82R exonic ENSG00000002745 NA nonsynonymous SNV ENSG00000002745:ENST00000222462:exon2:c.G244A:p.G82R,ENSG00000002745:ENST00000361301:exon2:c.G214A:p.G72R Score=535;Name=lod=199 Name=Bone mineral density 7q31.31 Score=834;Name=V$PAX4_01 Name=CTCF,Rad21,CTCF_(SC-5916),CTCF_(C-20) Name=39 NA rs2908004 0.48 0.48 0.481 0.510383 0.4433 0.1766 0.4092 0.9228 0.4376 0.44 0.18 0.44 0.93 0.4577 0.93 0.21 T 0.001 B 0.001 B 0.000 N 1.000 P -1.435 N -0.88 T -0.938 T 0.000 T 0.099 1.98 12.58 -0.765 -0.608 1.051 12.157 1.980316 1.980316 0.39 0.455 0.837948 ID=COSM1599875,COSM1599876;OCCURENCE=1(central_nervous_system) 0.645 NA 11.9773334 456 5 147286013 147286013 A T exonic C5orf46 NA nonsynonymous SNV C5orf46:NM_206966:exon1:c.T52A:p.F18I exonic ENSG00000178776 NA nonsynonymous SNV ENSG00000178776:ENST00000318315:exon1:c.T52A:p.F18I,ENSG00000178776:ENST00000515291:exon1:c.T52A:p.F18I Score=369;Name=lod=42 NA 5q32 NA Name=STAT3,GATA3_(SC-268),TBP Name=78 NA rs7722926 0.26 0.26 0.293 0.294529 0.0905 0.2232 0.147 0.6619 0.1861 0.09 0.22 0.15 0.66 0.1622 0.66 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 1.26 T -0.920 T 0.000 T 0.09 0.22 5.187 3.7 0.443 1.300 5.768 0.220059 NA 1 0.104767 0.610304 NA 0.37 NA 11.9758664 457 11 101359750 101359750 G A exonic TRPC6 NA nonsynonymous SNV TRPC6:NM_004621:exon4:c.C1211T:p.A404V exonic ENSG00000137672 NA nonsynonymous SNV ENSG00000137672:ENST00000344327:exon4:c.C1211T:p.A404V,ENSG00000137672:ENST00000532133:exon4:c.C1211T:p.A404V Score=329;Name=lod=29 NA 11q22.1 NA NA NA NA rs36111323 0.07 0.07 0.075 0.0642971 0.1382 0.0268 0.0764 0.0023 0.1022 0.15 0.03 0.07 0.002 0.0986 0.15 0.63 T 1.0 D 0.997 D 0.000 N 0.000 P 1.5 L -0.34 T -0.971 T 0.003 T 0.221 2.406 14 3.92 0.815 4.690 12.471 2.405544 2.405544 0.18 0.121773 0.022696 NA 0.116 NA 11.9747604 457 16 84212779 84212779 G A exonic TAF1C NA nonsynonymous SNV TAF1C:NM_001243158:exon11:c.C1382T:p.P461L,TAF1C:NM_001243157:exon12:c.C1382T:p.P461L,TAF1C:NM_001243160:exon12:c.C947T:p.P316L,TAF1C:NM_001243159:exon14:c.C1151T:p.P384L,TAF1C:NM_005679:exon14:c.C2378T:p.P793L,TAF1C:NM_001243156:exon15:c.C2300T:p.P767L,TAF1C:NM_139353:exon15:c.C2096T:p.P699L exonic ENSG00000103168 NA nonsynonymous SNV ENSG00000103168:ENST00000570117:exon11:c.C1382T:p.P461L,ENSG00000103168:ENST00000378541:exon13:c.C2378T:p.P793L,ENSG00000103168:ENST00000567759:exon14:c.C2378T:p.P793L,ENSG00000103168:ENST00000341690:exon15:c.C2096T:p.P699L,ENSG00000103168:ENST00000541676:exon15:c.C2099T:p.P700L,ENSG00000103168:ENST00000566732:exon15:c.C2300T:p.P767L NA NA 16q24.1 Score=805;Name=V$OLF1_01 NA NA NA rs2230131 0.14 0.14 0.151 0.158746 0.1103 0.1508 0.0648 0.208 0.2168 0.11 0.14 0.08 0.21 0.1574 0.21 0.01 D 0.381 B 0.067 B 0.081 N 1.000 P 1.95 M 4.24 T -0.928 T 0.000 T 0.178 1.563 11.18 2.21 0.219 1.120 4.762 1.563138 1.563138 0.01 0.093575 0.195771 NA 0.145 NA 11.9720584 457 6 3010390 3010390 C T exonic NQO2 NA nonsynonymous SNV NQO2:NM_000904:exon3:c.C139T:p.L47F exonic ENSG00000124588 NA nonsynonymous SNV ENSG00000124588:ENST00000380430:exon3:c.C139T:p.L47F,ENSG00000124588:ENST00000380454:exon3:c.C139T:p.L47F,ENSG00000124588:ENST00000380455:exon3:c.C139T:p.L47F,ENSG00000124588:ENST00000380441:exon4:c.C139T:p.L47F,ENSG00000124588:ENST00000380472:exon4:c.C139T:p.L47F,ENSG00000124588:ENST00000397717:exon4:c.C139T:p.L47F,ENSG00000124588:ENST00000426637:exon5:c.C139T:p.L47F,ENSG00000124588:ENST00000338130:exon6:c.C139T:p.L47F Score=419;Name=lod=67 NA 6p25.2 Score=876;Name=V$COUP_01 Name=FOSL2,JunD,HNF4A_(H-171) Name=25 NA rs1143684 0.8 0.8 0.799 0.797524 0.7893 0.6558 0.768 0.9849 0.7198 0.8 0.67 0.77 0.98 0.7906 0.98 1 T 0.001 B 0.002 B 0.000 N 1.000 P -3.395 N 3.34 T -0.962 T 0.001 T 0.262 -0.65 1.141 5.63 0.967 5.048 9.689 -0.649564 NA 1 0.782326 0.960962 NA 0.812 NA 11.9711074 457 6 29911228 29911228 A C exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon3:c.A527C:p.E176A,HLA-A:NM_002116:exon3:c.A527C:p.E176A exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon3:c.A527C:p.E176A,ENSG00000206503:ENST00000376806:exon3:c.A527C:p.E176A,ENSG00000206503:ENST00000376809:exon3:c.A527C:p.E176A,ENSG00000206503:ENST00000396634:exon5:c.A527C:p.E176A NA NA 6p22.1 NA Name=Pol2-4H8 Name=10 NA rs9256983 NA NA NA 0.189497 0.1819 0.2817 0.0879 0.0847 0.316 NA NA NA NA 0.1836 0.17 0.39 T 0.0 B 0.003 B 0.003 N 1.000 N 0.29 N 9.59 T -0.859 T 0.000 T 0.344 -1.396 0.023 -7.56 -7.540 1.149 8.368 -1.395936 NA 0.52 NA NA NA 0.203 NA 11.9678334 458 1 183201970 183201970 G C exonic LAMC2 NA nonsynonymous SNV LAMC2:NM_005562:exon14:c.G2198C:p.S733T,LAMC2:NM_018891:exon14:c.G2198C:p.S733T exonic ENSG00000058085 NA nonsynonymous SNV ENSG00000058085:ENST00000264144:exon14:c.G2198C:p.S733T,ENSG00000058085:ENST00000493293:exon14:c.G2198C:p.S733T NA NA 1q25.3 Score=798;Name=V$ISRE_01 NA Name=4 NA rs2296303 0.15 0.15 0.144 0.144968 0.1024 0.1468 0.1556 0.2186 0.0798 0.11 0.16 0.15 0.22 0.1384 0.23 0.4 T 0.244 B 0.169 B 0.000 D 0.937 P 2.075 M 2.47 T -0.984 T 0.000 T 0.06 0.455 6.469 1.73 0.063 1.207 6.354 0.454627 NA 0.04 0.128721 0.226282 NA 0.123 NA 11.9638124 458 15 44943757 44943757 A G exonic SPG11 NA nonsynonymous SNV SPG11:NM_001160227:exon6:c.T1388C:p.F463S,SPG11:NM_025137:exon6:c.T1388C:p.F463S exonic ENSG00000104133 NA nonsynonymous SNV ENSG00000104133:ENST00000557866:exon1:c.T86C:p.F29S,ENSG00000104133:ENST00000261866:exon6:c.T1388C:p.F463S,ENSG00000104133:ENST00000427534:exon6:c.T1388C:p.F463S,ENSG00000104133:ENST00000535302:exon6:c.T1388C:p.F463S,ENSG00000104133:ENST00000558319:exon6:c.T1388C:p.F463S,ENSG00000104133:ENST00000559193:exon6:c.T1388C:p.F463S NA NA 15q21.1 Score=813;Name=V$GFI1_01 NA NA NA rs3759871 0.49 0.49 0.489 0.47484 0.4513 0.4653 0.5893 0.5234 0.362 0.44 0.49 0.57 0.52 0.4659 0.57 0.33 T 0.066 B 0.022 B 0.001 D 1.000 P 1.61 L -0.73 T -0.903 T 0.000 T 0.418 1.234 10.01 4.93 1.092 1.226 3.101 1.234381 1.234381 0.4 0.455677 0.525478 ID=COSM147894;OCCURENCE=1(stomach) 0.449 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Spastic_paraplegia_11\x2c_autosomal_recessive|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000034172.2|RCV000118403.2;CLNDSDB=GeneReviews:MedGen:OMIM|.;CLNDSDBID=NBK1210:C1858479:604360|. 11.9604564 458 6 29912348 29912348 A G exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon5:c.A967G:p.T323A,HLA-A:NM_002116:exon5:c.A967G:p.T323A exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376806:exon5:c.A967G:p.T323A,ENSG00000206503:ENST00000376809:exon5:c.A967G:p.T323A,ENSG00000206503:ENST00000396634:exon7:c.A967G:p.T323A NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs1137078 0.24 0.24 0.206 0.257987 0.1769 0.1984 0.2305 0.3994 0.2311 0.16 0.21 0.24 0.4 0.198 0.4 0 D 0.0 B 0.002 B 0.843 U 1.000 P 1.375 L 6.02 T -0.962 T 0.001 T 0.208 -0.183 3.109 -6.18 -1.981 -1.200 5.305 -0.183024 NA 0.12 NA NA NA 0.08 NA 11.9584334 458 11 47370041 47370041 T C exonic MYBPC3 NA nonsynonymous SNV MYBPC3:NM_000256:exon6:c.A706G:p.S236G exonic ENSG00000134571 NA nonsynonymous SNV ENSG00000134571:ENST00000256993:exon6:c.A706G:p.S236G,ENSG00000134571:ENST00000399249:exon6:c.A706G:p.S236G,ENSG00000134571:ENST00000544791:exon6:c.A706G:p.S236G,ENSG00000134571:ENST00000545968:exon6:c.A706G:p.S236G Score=591;Name=lod=336 NA 11p11.2 NA NA NA NA rs3729989 0.09 0.09 0.085 0.0670927 0.1412 0.0268 0.0836 0.0431 0.0532 0.14 0.02 0.1 0.07 0.1079 0.14 1 T 0.0 B 0.0 B . . 0.999 P -1.655 N -0.3 T -1.055 T 0.001 T 0.048 0.063 4.342 5.12 1.170 2.559 13.832 0.062968 NA 1 0.126281 0.057397 NA 0.072 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000035662.2|RCV000126920.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.9579524 459 17 12915009 12915009 G A exonic ELAC2 NA nonsynonymous SNV ELAC2:NM_018127:exon7:c.C650T:p.S217L,ELAC2:NM_173717:exon7:c.C650T:p.S217L exonic ENSG00000006744 NA nonsynonymous SNV ENSG00000006744:ENST00000338034:exon7:c.C650T:p.S217L,ENSG00000006744:ENST00000395962:exon7:c.C593T:p.S198L,ENSG00000006744:ENST00000581499:exon7:c.C368T:p.S123L NA NA 17p12 NA NA NA NA rs4792311 0.21 0.21 0.205 0.214457 0.3151 0.0347 0.245 0.233 0.2495 0.33 0.03 0.23 0.21 0.2711 0.33 0.63 T 0.688 P 0.107 B 0.066 N 1.000 P 1.995 M -0.16 T -1.000 T 0.000 T 0.373 1.146 9.668 3.23 1.372 3.696 8.053 1.146016 NA 0.07 0.296744 0.23468 NA 0.21 CLINSIG=pathogenic;CLNDBN=Prostate_cancer\x2c_hereditary\x2c_2;CLNREVSTAT=single;CLNACC=RCV000005358.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=CN130472:614731:ORPHA1331 11.9503894 459 3 57542173 57542173 C T exonic PDE12 NA nonsynonymous SNV PDE12:NM_177966:exon1:c.C67T:p.R23W exonic ENSG00000174840 NA nonsynonymous SNV ENSG00000174840:ENST00000311180:exon1:c.C67T:p.R23W,ENSG00000174840:ENST00000487257:exon1:c.C67T:p.R23W NA NA 3p14.3 NA Name=Pol2(phosphoS2),YY1,Pol2,Mxi1_(bHLH),Pol2-4H8,YY1_(C-20),GATA-1,Pol2(b),TAF1,HEY1 Name=148 NA rs2241988 0.39 0.39 0.401 0.387979 0.4722 0.4306 0.451 0.1437 0.5429 0.47 0.42 0.47 0.15 0.4723 0.47 0.06 T 0.987 D 0.431 B 0.020 N 0.991 P 1.245 L 1.78 T -0.889 T 0.000 T 0.088 1.752 11.82 3.66 2.641 3.766 10.908 1.751894 1.751894 0.02 0.440634 0.182749 NA 0.377 NA 11.9481994 460 2 207041053 207041053 T C exonic GPR1 NA nonsynonymous SNV GPR1:NM_001098199:exon3:c.A919G:p.I307V,GPR1:NM_001261454:exon3:c.A919G:p.I307V,GPR1:NM_001261455:exon3:c.A919G:p.I307V,GPR1:NM_005279:exon3:c.A919G:p.I307V,GPR1:NM_001261452:exon4:c.A919G:p.I307V,GPR1:NM_001261453:exon4:c.A919G:p.I307V exonic ENSG00000183671 NA nonsynonymous SNV ENSG00000183671:ENST00000407325:exon3:c.A919G:p.I307V,ENSG00000183671:ENST00000437420:exon4:c.A919G:p.I307V Score=549;Name=lod=227 NA 2q33.3 NA NA Name=41 NA rs3732083 0.47 0.47 0.46 0.46246 0.4831 0.2579 0.5735 0.6483 0.3221 0.49 0.25 0.58 0.63 0.458 0.63 0.21 T 0.08 B 0.011 B 0.000 D 0.015 P 0 N 1.24 T -0.979 T 0.000 T 0.111 1.325 10.35 5.7 2.177 3.455 12.485 1.32518 1.32518 0.27 0.45 0.630958 NA 0.464 NA 11.9422334 460 7 90001496 90001496 G C exonic GTPBP10 NA nonsynonymous SNV GTPBP10:NM_001042717:exon3:c.G255C:p.L85F,GTPBP10:NM_033107:exon5:c.G492C:p.L164F exonic ENSG00000105793 NA nonsynonymous SNV ENSG00000105793:ENST00000257659:exon3:c.G255C:p.L85F,ENSG00000105793:ENST00000380058:exon4:c.G347C:p.C116S,ENSG00000105793:ENST00000453512:exon4:c.G320C:p.C107S,ENSG00000105793:ENST00000222511:exon5:c.G492C:p.L164F,ENSG00000105793:ENST00000426366:exon5:c.G465C:p.L155F,ENSG00000105793:ENST00000450619:exon6:c.G543C:p.L181F Score=547;Name=lod=223 NA 7q21.13 NA NA NA NA rs35001814 0.06 0.06 0.06 0.0505192 0.1302 0.002 0.0965 0.0068 0.045 0.12 NA 0.11 0.01 0.1109 0.15 . . 1.0 D 0.999 D 0.000 D 0.000 P 1.575 L 1.34 T -1.093 T 0.001 T 0.432 2.366 13.87 1.58 0.399 1.259 11.810 2.366126 2.366126 0 0.150151 0.029505 NA 0.08 NA 11.9420824 460 16 28513403 28513403 A G exonic IL27 NA nonsynonymous SNV IL27:NM_145659:exon4:c.T356C:p.L119P exonic ENSG00000197272 NA nonsynonymous SNV ENSG00000197272:ENST00000356897:exon4:c.T356C:p.L119P NA NA 16p11.2 NA NA NA NA rs181206 0.18 0.18 0.149 0.159944 0.2873 0.0833 0.3501 0.0151 0.1687 0.3 0.1 0.27 0.02 0.2851 0.32 0.01 D 0.99 D 0.836 P 0.383 N 1.000 P 1.245 L 1.13 T -1.014 T 0.000 T 0.322 2.471 14.22 2.97 1.600 1.753 6.393 2.471119 2.471119 0.09 0.320116 0.072827 NA 0.13 NA 11.9408174 460 2 201736166 201736166 A C exonic PPIL3 NA nonsynonymous SNV PPIL3:NM_032472:exon7:c.T450G:p.D150E,PPIL3:NM_130906:exon7:c.T438G:p.D146E exonic ENSG00000240344 NA nonsynonymous SNV ENSG00000240344:ENST00000409264:exon6:c.T495G:p.D165E,ENSG00000240344:ENST00000286175:exon7:c.T450G:p.D150E,ENSG00000240344:ENST00000392283:exon7:c.T438G:p.D146E,ENSG00000240344:ENST00000409361:exon7:c.T426G:p.D142E,ENSG00000240344:ENST00000409449:exon7:c.T450G:p.D150E Score=592;Name=lod=338 NA 2q33.1 Score=880;Name=V$OCT1_03 Name=JunD,CEBPB Name=26 NA rs7562391 0.17 0.17 0.204 0.176118 0.1441 0.0139 0.1268 0.4523 0.0378 0.15 0.0035 0.12 0.41 0.1228 0.41 0.69 T 0.001 B 0.004 B 0.000 D 0.000 P 0.4 N 0.9 T -0.919 T 0.000 T 0.086 0.977 8.989 1.14 0.509 0.345 6.039 0.977153 NA 0.55 0.127907 0.371993 NA 0.196 NA 11.9385264 461 5 141019830 141019830 C G exonic RELL2 NA nonsynonymous SNV RELL2:NM_173828:exon5:c.C847G:p.Q283E,RELL2:NM_001130029:exon6:c.C847G:p.Q283E exonic ENSG00000164620 NA nonsynonymous SNV ENSG00000164620:ENST00000297164:exon5:c.C847G:p.Q283E,ENSG00000164620:ENST00000518856:exon5:c.C649G:p.Q217E,ENSG00000164620:ENST00000521367:exon5:c.C649G:p.Q217E,ENSG00000164620:ENST00000444782:exon6:c.C847G:p.Q283E Score=440;Name=lod=82 NA 5q31.3 NA NA NA NA rs11742646 0.16 0.16 0.159 NA NA NA NA NA NA 0.17 0.13 0.22 0.14 0.2028 0.22 0.35 T 0.073 B 0.037 B 0.000 D 0.000 P 0.805 L 2.43 T -0.954 T 0.000 T 0.104 1.803 11.99 4.66 1.312 2.418 12.254 1.802654 1.802654 0.17 0.19686 0.139128 NA 0.116 NA 11.9336734 461 17 15217437 15217437 C G exonic TEKT3 NA nonsynonymous SNV TEKT3:NM_031898:exon6:c.G845C:p.G282A exonic ENSG00000125409 NA nonsynonymous SNV ENSG00000125409:ENST00000338696:exon5:c.G845C:p.G282A,ENSG00000125409:ENST00000395930:exon6:c.G845C:p.G282A,ENSG00000125409:ENST00000539245:exon7:c.G347C:p.G116A Score=403;Name=lod=58 NA 17p12 Score=780;Name=V$STAT3_01 NA NA NA rs230898 0.42 0.42 0.392 0.427516 0.4652 0.4732 0.3919 0.2927 0.5491 0.5 0.47 0.39 0.25 0.4566 0.5 0.61 T 0.001 B 0.004 B 0.000 D 0.128 P 0.65 N 4.34 T -0.938 T 0.000 T 0.336 1.833 12.09 5.43 2.549 5.786 14.451 1.832668 1.832668 0.28 0.481047 0.326146 NA 0.478 NA 11.9304864 461 19 13409696 13409696 C G exonic CACNA1A NA nonsynonymous SNV CACNA1A:NM_001127221:exon19:c.G2754C:p.E918D,CACNA1A:NM_001127222:exon19:c.G2751C:p.E917D exonic ENSG00000141837 NA nonsynonymous SNV ENSG00000141837:ENST00000360228:exon19:c.G2751C:p.E917D,ENSG00000141837:ENST00000573710:exon19:c.G2754C:p.E918D Score=300;Name=lod=22 NA 19p13.2 Score=775;Name=V$PAX5_02 NA Name=2 NA rs16022 0.11 0.11 0.117 0.105831 0.1471 0.1171 0.1254 0.0605 0.0992 0.14 0.12 0.12 0.05 0.1435 0.14 0.27 T 0.115 B 0.056 B 0.000 N 0.001 P -0.345 N -3.96 D -0.491 T 0.017 T 0.039 -0.269 2.711 1.49 0.091 0.109 5.84 -0.268795 NA 0.37 0.116032 0.058489 ID=COSM329213,COSM329212,COSM329211;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.014 CLINSIG=untested|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=not|single;CLNACC=RCV000059296.1|RCV000116520.2;CLNDSDB=.|.;CLNDSDBID=.|. 11.9267014 462 7 143632618 143632618 C T exonic OR2F2 NA nonsynonymous SNV OR2F2:NM_001004685:exon1:c.C293T:p.A98V exonic ENSG00000221910 NA nonsynonymous SNV ENSG00000221910:ENST00000408955:exon1:c.C293T:p.A98V Score=363;Name=lod=40 NA 7q35 NA NA NA NA rs2240359 0.46 0.46 0.46 0.435304 0.2783 0.5397 0.4006 0.6974 0.1595 0.27 0.53 0.43 0.69 0.3414 0.69 1 T 0.732 P 0.16 B 0.000 D 0.553 P 0.41 N 5.93 T -1.167 T 0.000 T 0.099 0.1 4.54 3.66 2.048 2.487 7.147 0.100329 NA 1 0.291017 0.625965 NA 0.428 NA 11.9226164 462 16 69221510 69221510 C G exonic SNTB2 NA synonymous SNV SNTB2:NM_006750:exon1:c.C441G:p.P147P exonic ENSG00000168807 NA synonymous SNV ENSG00000168807:ENST00000336278:exon1:c.C441G:p.P147P,ENSG00000168807:ENST00000467311:exon1:c.C441G:p.P147P Score=686;Name=lod=820 NA 16q22.1 Score=851;Name=V$IK1_01 Name=TCF4,Pol2,GATA3_(SC-268),E2F6_(H-50),EBF1_(C-8),CEBPB,GATA-2,HA-E2F1,AP-2gamma,c-Myc Name=133 NA rs10650 0.18 0.18 0.125 0.180711 0.2296 0.0417 0.1671 0.3003 0.1217 0.22 0.05 0.17 0.29 0.2966 0.29 0 D . . . . 0.000 N 0.000 P . . 1.49 T -1.035 T 0.000 T . 2.138 13.11 2.86 0.564 0.499 8.631 2.137905 2.137905 NA 0.218184 0.264106 NA 0.007 NA 11.9222826 462 12 10588530 10588530 C G exonic KLRC2 NA nonsynonymous SNV KLRC2:NM_002260:exon1:c.G56C:p.R19P exonic ENSG00000205809,ENSG00000255641 NA nonsynonymous SNV ENSG00000205809:ENST00000381901:exon1:c.G56C:p.R19P,ENSG00000205809:ENST00000381902:exon1:c.G56C:p.R19P,ENSG00000255641:ENST00000539033:exon1:c.G56C:p.R19P NA NA 12p13.2 NA Name=STAT1,TCF4,p300_(N-15),TBP,IRF3,c-Fos Name=54 NA rs34195537 0.26 0.26 0.269 NA NA NA NA NA NA 0.3 0.25 0.32 0.14 0.4118 0.32 0.01 D 0.999 D 0.971 D 0.109 N 1.000 N 1.9 L 3.36 T -0.904 T 0.000 T 0.275 1.675 11.56 -0.058 -0.169 -0.155 4.909 1.674672 1.674672 0.02 NA NA ID=COSM1628343;OCCURENCE=1(liver) NA NA 11.9215334 462 1 211840498 211840498 T C exonic NEK2 NA nonsynonymous SNV NEK2:NM_001204182:exon7:c.A1061G:p.N354S,NEK2:NM_001204183:exon7:c.A1061G:p.N354S,NEK2:NM_002497:exon7:c.A1061G:p.N354S exonic ENSG00000117650 NA nonsynonymous SNV ENSG00000117650:ENST00000366998:exon7:c.A1061G:p.N354S,ENSG00000117650:ENST00000366999:exon7:c.A1061G:p.N354S,ENSG00000117650:ENST00000540251:exon8:c.A932G:p.N311S Score=426;Name=lod=72 NA 1q32.3 NA NA NA NA rs2230489 0.17 0.17 0.157 0.172324 0.1282 0.2242 0.2061 0.1778 0.1329 0.13 0.24 0.17 0.17 0.1526 0.24 0.43 T 0.002 B 0.003 B 0.000 D 0.007 P 1.43 L 1.25 T -1.030 T 0.000 T 0.04 1.874 12.22 4.89 1.964 1.120 9.121 1.874092 1.874092 0.15 0.131512 0.16296 NA 0.123 NA 11.9210214 462 5 149006640 149006640 C T exonic ARHGEF37 NA nonsynonymous SNV ARHGEF37:NM_001001669:exon11:c.C1466T:p.P489L exonic ENSG00000183111 NA nonsynonymous SNV ENSG00000183111:ENST00000333677:exon11:c.C1466T:p.P489L Score=378;Name=lod=46 NA 5q32 NA NA NA NA rs9324624 0.4 0.4 0.426 0.375599 0.5109 0.1706 0.3617 0.4871 0.3067 0.5 0.16 0.4 0.54 0.4193 0.54 0.06 T 1.0 D 0.963 D 0.005 N 0.000 P 1.795 L 0.45 T -0.886 T 0.000 T 0.094 3.945 20.2 4.53 1.281 5.321 12.358 3.944542 3.944542 0.15 0.484201 0.458881 NA 0.543 NA 11.9189324 463 16 88908306 88908306 G A exonic GALNS NA synonymous SNV GALNS:NM_000512:exon3:c.C318T:p.N106N exonic ENSG00000141012 NA nonsynonymous SNV ENSG00000141012:ENST00000567525:exon2:c.C143T:p.T48M Score=420;Name=lod=68 NA 16q24.3 NA NA NA NA rs34278797 0.02 0.02 0.014 0.0115815 0.0368 NA 0.0216 0.0015 0.0041 0.03 NA 0.03 0.0041 0.0218 0.031 0 D . . . . . . 1.000 D . . . . -0.505 T 0.142 T . 1.551 11.14 -2.82 -0.434 -1.237 13.413 1.551197 1.551197 0 0.030705 0.006378 NA NA NA 11.910695 463 5 43039793 43039793 T C exonic ANXA2R NA nonsynonymous SNV ANXA2R:NM_001014279:exon1:c.A356G:p.Q119R exonic ENSG00000177721 NA nonsynonymous SNV ENSG00000177721:ENST00000314890:exon2:c.A356G:p.Q119R NA NA 5p12 NA Name=CTCF,NFKB,ELF1_(SC-631),c-Myc,GR,TCF4,Pol2,HA-E2F1,YY1_(C-20),Sin3Ak-20 Name=146 NA rs1054428 0.2 0.2 0.166 0.183506 0.334 0.0089 0.3487 0.115 0.184 0.32 0.01 0.36 0.11 0.2673 0.36 0.3 T 0.994 D 0.81 P . . 1.000 P 0.975 L 1.47 T -1.097 T 0.000 T 0.049 1.34 10.4 -6.01 -2.514 -0.215 1.570 1.34023 1.34023 0.25 0.326977 0.149796 NA 0.21 NA 11.9050564 464 9 95887320 95887320 G T exonic NINJ1 NA nonsynonymous SNV NINJ1:NM_004148:exon3:c.C329A:p.A110D exonic ENSG00000131669 NA nonsynonymous SNV ENSG00000131669:ENST00000375446:exon3:c.C329A:p.A110D Score=527;Name=lod=184 Name=Obesity (early onset extreme) 9q22.31 Score=783;Name=V$AHRARNT_02 NA NA NA rs2275848 0.8 0.8 0.754 0.789137 0.8101 0.874 0.8775 0.6248 0.8395 0.8 0.89 0.86 0.63 0.805 0.89 0.54 T 0.936 P 0.799 P 0.000 D 0.001 P 1.15 L 0.97 T -1.030 T 0.000 T 0.059 2.785 15.27 2.51 0.571 1.597 12.090 2.785166 2.785166 0.39 0.813953 0.676577 NA 0.783 NA 11.9042804 465 17 66538239 66538239 G T exonic FAM20A NA nonsynonymous SNV FAM20A:NM_017565:exon7:c.C996A:p.N332K,FAM20A:NM_001243746:exon8:c.C582A:p.N194K exonic ENSG00000108950 NA nonsynonymous SNV ENSG00000108950:ENST00000592554:exon7:c.C996A:p.N332K Score=446;Name=lod=87 NA 17q24.2 Score=928;Name=V$E47_01 NA NA NA rs2302234 0.38 0.38 0.352 0.357827 0.3121 0.5446 0.4481 0.2716 0.2648 0.3 0.53 0.43 0.27 0.3236 0.53 0.79 T 0.811 P 0.341 B 0.003 N 0.000 P 0.965 L . . -0.988 T 0.000 T 0.12 1.849 12.14 5.02 2.873 2.510 16.842 1.848673 1.848673 0.26 0.303023 0.274172 NA 0.413 NA 11.8946104 465 9 109689752 109689752 C T exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon3:c.C3559T:p.P1187S exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000374686:exon1:c.C208T:p.P70S,ENSG00000148143:ENST00000441147:exon1:c.C94T:p.P32S,ENSG00000148143:ENST00000277225:exon3:c.C3559T:p.P1187S,ENSG00000148143:ENST00000457913:exon3:c.C3559T:p.P1187S Score=605;Name=lod=384 NA 9q31.2 NA NA NA NA rs3814541 0.1 0.1 0.091 0.103634 0.162 0.0794 0.0908 0.0151 0.1973 0.18 0.08 0.11 0.02 0.1331 0.18 0.14 T 0.062 B 0.046 B 0.000 D 0.000 P 1.87 L 3.93 T -1.000 T 0.000 T 0.078 1.335 10.38 5.37 2.513 3.028 13.411 1.33508 1.33508 0 0.145698 0.030413 NA 0.101 NA 11.8925354 465 19 10129552 10129552 C G exonic RDH8 NA nonsynonymous SNV RDH8:NM_015725:exon3:c.C468G:p.H156Q exonic ENSG00000080511 NA nonsynonymous SNV ENSG00000080511:ENST00000171214:exon3:c.C408G:p.H136Q,ENSG00000080511:ENST00000591589:exon3:c.C468G:p.H156Q Score=519;Name=lod=171 NA 19p13.2 NA NA NA NA rs1122206 0.17 0.17 0.175 0.194289 0.1541 0.0853 0.1513 0.3381 0.184 0.15 0.09 0.14 0.34 0.1544 0.34 0.09 T 0.999 D 0.995 D 0.000 D 0.001 P 0.39 N -3.18 D -1.135 T 0.000 T 0.909 3.517 17.96 0.86 0.635 0.608 7.313 3.517049 3.517049 0.03 0.13407 0.303677 ID=COSM1130021;OCCURENCE=1(prostate) 0.203 NA 11.8907634 466 6 55142337 55142337 A G exonic HCRTR2 NA nonsynonymous SNV HCRTR2:NM_001526:exon5:c.A922G:p.I308V exonic ENSG00000137252 NA nonsynonymous SNV ENSG00000137252:ENST00000370862:exon5:c.A922G:p.I308V Score=656;Name=lod=618 NA 6p12.1 Score=727;Name=V$SEF1_C NA Name=11 Score=94;Name=2047481_0_+_94 rs2653349 0.87 0.87 0.87 0.878794 0.8161 0.9375 0.8761 0.8926 0.8661 0.81 0.94 0.87 0.88 0.8393 0.94 1 T 0.0 B 0.001 B 0.000 N 0.998 P -0.545 N 1.36 T -1.041 T 0.014 T 0.092 1.136 9.629 6.06 1.590 7.443 15.685 1.135918 NA 1 0.793605 0.884476 NA 0.891 NA 11.8843284 466 19 7573287 7573287 C T exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon9:c.C1489T:p.P497S exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon9:c.C1489T:p.P497S NA NA 19p13.2 Score=812;Name=V$CDPCR3_01 NA NA NA rs1133378 0.28 0.28 0.249 0.239217 0.337 0.1746 0.3285 0.1725 0.2321 0.35 0.2 0.37 0.2 0.2889 0.37 0.15 T 0.992 D 0.876 P 0.096 N 1.000 P 1.78 L 2.55 T -0.905 T 0.000 T 0.166 3.24 16.86 3.62 2.325 1.017 11.066 3.239811 3.239811 0.13 0.331279 0.19119 NA 0.29 NA 11.8761544 466 6 29141632 29141632 T C exonic OR2J2 NA nonsynonymous SNV OR2J2:NM_030905:exon1:c.T220C:p.Y74H exonic ENSG00000204700 NA nonsynonymous SNV ENSG00000204700:ENST00000377167:exon1:c.T220C:p.Y74H Score=455;Name=lod=94 NA 6p22.1 NA NA NA NA rs3116855 0.36 0.36 0.313 0.316494 0.5149 0.3512 0.4035 0.0408 0.3875 0.54 0.35 0.41 0.04 0.4515 0.54 0.01 D . . . . . . 0.957 P 2.855 M 4.95 T -1.071 T 0.009 T 0.05 1.637 11.43 2.3 1.039 2.328 9.076 1.636528 1.636528 0.03 0.491101 0.115731 NA 0.239 NA 11.8758324 467 1 241951329 241951329 C T exonic WDR64 NA nonsynonymous SNV WDR64:NM_144625:exon23:c.C2854T:p.R952W exonic ENSG00000162843 NA nonsynonymous SNV ENSG00000162843:ENST00000414635:exon13:c.C1666T:p.R556W,ENSG00000162843:ENST00000472717:exon13:c.C1531T:p.R511W,ENSG00000162843:ENST00000437684:exon18:c.C2353T:p.R785W,ENSG00000162843:ENST00000366552:exon23:c.C2854T:p.R952W NA NA 1q43 Score=794;Name=V$COMP1_01 NA NA NA rs12074374 0.13 0.13 0.122 0.11242 0.16 0.005 0.1254 0.2186 0.0215 0.15 0.0035 0.15 0.21 0.1326 0.21 0 D 1.0 D 0.928 D 0.047 N 0.545 P 1.87 L 1.17 T -1.091 T 0.000 T 0.359 3.271 16.98 2.8 0.339 0.373 9.375 3.271363 3.271363 0 0.168605 0.214253 NA 0.21 NA 11.8721284 468 19 49377918 49377918 G T exonic PPP1R15A NA nonsynonymous SNV PPP1R15A:NM_014330:exon2:c.G1428T:p.R476S exonic ENSG00000087074 NA nonsynonymous SNV ENSG00000087074:ENST00000200453:exon2:c.G1428T:p.R476S NA NA 19q13.33 NA Name=PU.1,Pol2,FOSL1_(SC-183),c-Fos,GATA-2,eGFP-JunB Name=93 NA rs35087747 0.09 0.09 0.083 0.0840655 0.164 0.003 0.0793 0.087 0.0849 0.16 0.0017 0.08 0.09 0.1281 0.18 1 T 0.0 B 0.0 B 0.776 N 1.000 P -0.345 N 3.49 T -0.981 T 0.000 T 0.017 -0.888 0.463 -5.56 -1.820 -2.597 3.004 -0.888184 NA 1 0.180116 0.131185 NA 0.138 NA 11.8611174 468 19 42213782 42213782 T C exonic CEACAM5 NA nonsynonymous SNV CEACAM5:NM_004363:exon2:c.T248C:p.V83A exonic ENSG00000105388,ENSG00000267881 NA nonsynonymous SNV ENSG00000105388:ENST00000221992:exon2:c.T248C:p.V83A,ENSG00000105388:ENST00000398599:exon2:c.T248C:p.V83A,ENSG00000105388:ENST00000405816:exon2:c.T248C:p.V83A,ENSG00000267881:ENST00000598976:exon2:c.T248C:p.V83A NA NA 19q13.2 Score=823;Name=V$E4BP4_01 NA NA NA rs28683503 0.14 0.14 0.132 0.16234 0.1958 NA 0.1037 0.3949 0.0225 0.17 NA 0.11 0.27 0.1443 0.31 0.11 T 0.016 B 0.084 B . . 1.000 P 2.035 M -0.27 T -0.979 T 0.000 T 0.066 -0.036 3.83 -4.68 -1.374 -2.465 1.288 -0.035887 NA 0 0.132442 0.305266 NA 0.232 NA 11.8607914 468 19 51918135 51918135 G T exonic SIGLEC10 NA nonsynonymous SNV SIGLEC10:NM_001171156:exon8:c.C1384A:p.R462S,SIGLEC10:NM_033130:exon8:c.C1558A:p.R520S exonic ENSG00000142512 NA nonsynonymous SNV ENSG00000142512:ENST00000339313:exon8:c.C1558A:p.R520S,ENSG00000142512:ENST00000356298:exon8:c.C1558A:p.R520S,ENSG00000142512:ENST00000439889:exon8:c.C1384A:p.R462S Score=304;Name=lod=23 NA 19q13.41 Score=780;Name=V$HEN1_01 NA NA NA rs1833785 0.21 0.21 0.212 0.243011 0.1501 0.2113 0.1974 0.3828 0.2147 0.15 0.19 0.18 0.36 0.1781 0.36 1 T 0.001 B 0.003 B 0.120 N 0.000 P -1.57 N -1.99 D -1.056 T 0.000 T 0.057 -0.235 2.864 -2.29 -0.803 -0.988 11.809 -0.235411 NA 1 0.149221 0.345141 NA 0.232 NA 11.8559124 469 11 56468720 56468720 T C exonic OR9G1,OR9G9 NA nonsynonymous SNV OR9G1:NM_001005213:exon1:c.T857C:p.L286P,OR9G9:NM_001013358:exon1:c.T857C:p.L286P exonic ENSG00000174914 NA nonsynonymous SNV ENSG00000174914:ENST00000312153:exon1:c.T857C:p.L286P Score=519;Name=lod=171 NA 11q12.1 NA NA NA NA rs66943455 NA NA 0.379 NA NA NA NA NA NA NA NA NA NA 0.4847 NA 1 T 0.0 B 0.0 B 0.000 N 0.954 D -4.28 N 2.5 T -0.886 T 0.004 T 0.3 -0.318 2.488 4.62 1.281 3.981 13.155 -0.31812 NA 1 NA NA NA 0.014 NA 11.8486334 469 3 46729757 46729757 C G exonic ALS2CL NA nonsynonymous SNV ALS2CL:NM_001190707:exon3:c.G133C:p.E45Q,ALS2CL:NM_147129:exon3:c.G133C:p.E45Q exonic ENSG00000178038 NA nonsynonymous SNV ENSG00000178038:ENST00000318962:exon3:c.G133C:p.E45Q,ENSG00000178038:ENST00000415953:exon3:c.G133C:p.E45Q,ENSG00000178038:ENST00000431015:exon3:c.G133C:p.E45Q,ENSG00000178038:ENST00000434140:exon3:c.G133C:p.E45Q,ENSG00000178038:ENST00000450172:exon3:c.G133C:p.E45Q Score=243;Name=lod=13 NA 3p21.31 NA NA NA NA rs7642448 0.4 0.4 0.404 0.448482 0.3161 0.3046 0.3991 0.736 0.3793 0.31 0.28 0.4 0.68 0.3641 0.68 0.17 T 0.988 D 0.69 P 0.001 N 0.000 P 1.04 L 0.47 T -0.955 T 0.000 T 0.099 1.704 11.66 4.36 2.413 3.504 12.567 1.703594 1.703594 0.08 0.307093 0.644349 NA 0.507 NA 11.8460404 470 6 150212003 150212003 C T exonic RAET1E NA nonsynonymous SNV RAET1E:NM_001243325:exon1:c.G35A:p.R12H,RAET1E:NM_001243327:exon1:c.G35A:p.R12H,RAET1E:NM_139165:exon1:c.G35A:p.R12H,RAET1E:NM_001243328:exon2:c.G35A:p.R12H exonic ENSG00000164520 NA nonsynonymous SNV ENSG00000164520:ENST00000357183:exon1:c.G35A:p.R12H,ENSG00000164520:ENST00000367363:exon1:c.G35A:p.R12H,ENSG00000164520:ENST00000392270:exon1:c.G35A:p.R12H,ENSG00000164520:ENST00000529948:exon1:c.G35A:p.R12H,ENSG00000164520:ENST00000532335:exon2:c.G35A:p.R12H,ENSG00000164520:ENST00000531073:exon3:c.G35A:p.R12H NA NA 6q25.1 NA Name=Pol2,TBP Name=23 NA rs9383583 0.26 0.26 0.269 0.267772 0.1581 0.5526 0.1182 0.2209 0.2566 0.14 0.55 0.14 0.19 0.1931 0.55 0.39 T 0.001 B 0.001 B . . 1.000 P -0.345 N 5.18 T -0.965 T 0.007 T 0.334 0.328 5.78 -4.39 -2.414 -2.057 7.046 0.328267 NA 0 0.139535 0.222197 NA 0.261 NA 11.8425984 470 11 56468368 56468368 C T exonic OR9G1,OR9G9 NA nonsynonymous SNV OR9G1:NM_001005213:exon1:c.C505T:p.R169C,OR9G9:NM_001013358:exon1:c.C505T:p.R169C exonic ENSG00000174914 NA nonsynonymous SNV ENSG00000174914:ENST00000312153:exon1:c.C505T:p.R169C NA NA 11q12.1 NA NA NA NA rs11228733 0.49 0.49 NA 0.000798722 NA NA 0.0043 0.0008 NA 0.5 0.48 0.5 0.5 0.4946 0.5 0.02 D 0.782 P 0.67 P 0.086 N 1.000 N 2.235 M 1.17 T -0.978 T 0.000 T 0.159 1.623 11.38 -6.62 -1.435 -0.527 9.083 1.622619 1.622619 0.02 NA NA NA 0.123 NA 11.8387334 471 19 35422808 35422808 C T exonic ZNF30 NA nonsynonymous SNV ZNF30:NM_001099437:exon3:c.C71T:p.S24F,ZNF30:NM_001099438:exon3:c.C71T:p.S24F,ZNF30:NM_194325:exon3:c.C71T:p.S24F exonic ENSG00000168661 NA nonsynonymous SNV ENSG00000168661:ENST00000303586:exon3:c.C71T:p.S24F,ENSG00000168661:ENST00000439785:exon3:c.C71T:p.S24F,ENSG00000168661:ENST00000601142:exon3:c.C71T:p.S24F,ENSG00000168661:ENST00000601957:exon3:c.C71T:p.S24F Score=361;Name=lod=39 NA 19q13.11 NA NA NA NA rs10422961 0.29 0.29 0.294 0.288139 0.3618 0.2202 0.232 0.2693 0.3476 0.37 0.24 0.26 0.26 0.3122 0.37 0.01 D 0.694 P 0.351 B . . 0.000 P 4.305 H 4.1 T -1.044 T 0.000 T 0.195 1.637 11.43 1.55 1.167 1.149 6.571 1.63739 1.63739 0.02 0.324643 0.254064 ID=COSM1392764;OCCURENCE=1(large_intestine) 0.196 NA 11.8346904 471 11 48346961 48346961 A T exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.A469T:p.N157Y exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.A469T:p.N157Y Score=557;Name=lod=244 NA 11p11.2 Score=861;Name=V$MRF2_01 NA NA NA rs75493089 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4996 NA 1 T 0.0 B 0.0 B 0.006 N 0.771 N -4.415 N 2.87 T -0.987 T 0.003 T 0.192 -1.328 0.032 4.66 1.048 6.104 10.809 -1.328244 NA 1 NA NA NA NA NA 11.8337334 471 1 144868170 144868170 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_014644:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_001198832:exon35:c.G4951A:p.A1651T exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon33:c.G5269A:p.A1757T,ENSG00000178104:ENST00000369356:exon33:c.G5269A:p.A1757T,ENSG00000178104:ENST00000313382:exon35:c.G4951A:p.A1651T,ENSG00000178104:ENST00000530740:exon35:c.G5524A:p.A1842T,ENSG00000178104:ENST00000369359:exon36:c.G5677A:p.A1893T Score=336;Name=lod=31 NA 1q21.1 Score=843;Name=V$TAL1BETAE47_01 NA Name=2 NA rs1628310 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.44 T 0.034 B 0.022 B . . 1.000 D 0.55 N 4.88 T -0.924 T 0.002 T 0.026 1.492 10.94 2.4 0.870 0.085 6.363 1.491553 1.491553 0.17 NA NA NA 0.5 NA 11.8333334 471 1 144871782 144871782 A G exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_014644:exon32:c.T5180C:p.L1727P exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon32:c.T5180C:p.L1727P,ENSG00000178104:ENST00000369356:exon32:c.T5180C:p.L1727P,ENSG00000178104:ENST00000530740:exon34:c.T5435C:p.L1812P,ENSG00000178104:ENST00000369359:exon35:c.T5588C:p.L1863P Score=550;Name=lod=230 NA 1q21.1 NA NA NA NA rs1778158 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.42 1 T 0.0 B 0.0 B . . 1.000 D -1.935 N 4.86 T -0.939 T 0.001 T 0.116 0.261 5.413 5.97 1.549 3.094 13.280 0.261421 NA 1 NA NA NA 0.384 NA 11.8333334 471 1 144917841 144917841 T C exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon7:c.A1934G:p.H645R,PDE4DIP:NM_001002812:exon11:c.A1445G:p.H482R,PDE4DIP:NM_001198834:exon11:c.A1445G:p.H482R,PDE4DIP:NM_014644:exon11:c.A1445G:p.H482R,PDE4DIP:NM_001198832:exon14:c.A1643G:p.H548R exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon7:c.A1934G:p.H645R,ENSG00000178104:ENST00000479408:exon7:c.A806G:p.H269R,ENSG00000178104:ENST00000529945:exon7:c.A1934G:p.H645R,ENSG00000178104:ENST00000369349:exon11:c.A1445G:p.H482R,ENSG00000178104:ENST00000369351:exon11:c.A1445G:p.H482R,ENSG00000178104:ENST00000369354:exon11:c.A1445G:p.H482R,ENSG00000178104:ENST00000369356:exon11:c.A1445G:p.H482R,ENSG00000178104:ENST00000313382:exon14:c.A1643G:p.H548R,ENSG00000178104:ENST00000369359:exon14:c.A1856G:p.H619R,ENSG00000178104:ENST00000530740:exon14:c.A1856G:p.H619R Score=433;Name=lod=77 NA 1q21.1 NA NA NA NA rs1698681 0.5 0.5 0.49 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.64 T 0.053 B 0.058 B . . 1.000 D -0.55 N 4.99 T -1.036 T 0.041 T 0.227 1.128 9.599 4.59 2.215 2.822 10.02 1.128116 NA 0.11 NA NA NA 0.493 NA 11.8333334 471 1 144931392 144931392 G A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.C317T:p.A106V exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon1:c.C317T:p.A106V,ENSG00000178104:ENST00000529945:exon1:c.C317T:p.A106V NA NA 1q21.1 NA Name=c-Myc,PAX5-C20,ZNF263,HA-E2F1 Name=134 NA rs2798893 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.32 T 0.036 B 0.01 B . . 0.994 N 0.14 N 2.67 T -0.938 T 0.008 T 0.039 0.239 5.292 4.35 1.154 1.217 12.594 0.239266 NA 0.25 NA NA NA 0.5 NA 11.8333334 471 2 167273315 167273315 G A exonic SCN7A NA nonsynonymous SNV SCN7A:NM_002976:exon20:c.C3316T:p.R1106W exonic ENSG00000136546 NA nonsynonymous SNV ENSG00000136546:ENST00000409855:exon20:c.C3316T:p.R1106W NA NA 2q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002591 NA 0 D 0.669 P 0.04 B 0.736 N 1.000 N -0.625 N -4.09 D -0.293 T 0.632 D 0.15 0.416 6.26 0.442 0.172 0.805 16.370 0.416089 NA 0 NA NA NA NA NA 11.8333075 471 10 13340236 13340236 G A exonic PHYH NA nonsynonymous SNV PHYH:NM_006214:exon2:c.C85T:p.P29S exonic ENSG00000107537 NA nonsynonymous SNV ENSG00000107537:ENST00000263038:exon2:c.C85T:p.P29S,ENSG00000107537:ENST00000396920:exon2:c.C28T:p.P10S,ENSG00000107537:ENST00000479604:exon2:c.C85T:p.P29S Score=272;Name=lod=17 NA 10p13 NA NA NA NA rs28938169 0.11 0.11 0.088 0.0976438 0.173 0.0238 0.0965 0.1165 0.0716 0.17 0.02 0.11 0.1 0.1504 0.18 0.49 T 0.156 B 0.029 B 0.007 N 0.000 P 1.825 L -2.66 D -0.883 T 0.004 T 0.306 0.939 8.826 3.26 0.542 2.237 9.816 0.938836 NA 0.07 0.177209 0.122333 NA 0.043 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000008020.2|RCV000117911.2;CLNDSDB=.|.;CLNDSDBID=.|. 11.8327244 471 11 130275749 130275749 T C exonic ADAMTS8 NA nonsynonymous SNV ADAMTS8:NM_007037:exon9:c.A2374G:p.T792A exonic ENSG00000134917 NA nonsynonymous SNV ENSG00000134917:ENST00000257359:exon9:c.A2374G:p.T792A Score=429;Name=lod=74 NA 11q24.3 NA NA NA NA rs11222085 0.1 0.1 0.089 0.0838658 0.175 NA 0.2464 0.0129 0.0573 0.19 NA 0.21 0.01 0.1441 0.21 0.53 T 0.044 B 0.052 B 0.001 D 0.150 P 1.115 L 0.75 T -1.047 T 0.000 T 0.051 0.887 8.604 5.34 2.018 0.973 9.408 0.887485 NA 0.02 0.181536 0.032099 NA 0.196 NA 11.8326974 471 1 1650787 1650787 T C exonic CDK11A,CDK11B NA nonsynonymous SNV CDK11A:NM_024011:exon4:c.A335G:p.H112R,CDK11B:NM_033486:exon4:c.A335G:p.H112R,CDK11B:NM_033489:exon5:c.A233G:p.H78R exonic ENSG00000008128 NA nonsynonymous SNV ENSG00000008128:ENST00000356200:exon3:c.A233G:p.H78R,ENSG00000008128:ENST00000509982:exon3:c.A335G:p.H112R,ENSG00000008128:ENST00000378638:exon4:c.A233G:p.H78R,ENSG00000008128:ENST00000404249:exon4:c.A335G:p.H112R,ENSG00000008128:ENST00000460465:exon4:c.A335G:p.H112R Score=336;Name=lod=31 NA 1p36.33 NA NA NA NA rs1137003 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5011 0.5 1 T 0.001 B 0.002 B . . 1.000 D . . 3.6 T -0.873 T 0.000 T 0.243 0.491 6.665 4.87 1.053 5.293 12.456 0.491257 NA 1 NA NA NA 0.116 NA 11.8322334 471 5 122685727 122685727 C G exonic CEP120 NA nonsynonymous SNV CEP120:NM_001166226:exon19:c.G2559C:p.Q853H,CEP120:NM_153223:exon20:c.G2637C:p.Q879H exonic ENSG00000168944 NA nonsynonymous SNV ENSG00000168944:ENST00000306467:exon19:c.G2637C:p.Q879H,ENSG00000168944:ENST00000306481:exon19:c.G2559C:p.Q853H,ENSG00000168944:ENST00000328236:exon20:c.G2637C:p.Q879H Score=615;Name=lod=423 NA 5q23.2 Score=788;Name=V$HEN1_01 NA NA NA rs1047437 0.19 0.19 0.165 0.185304 0.1581 0.244 0.2147 0.118 0.2229 0.17 0.25 0.2 0.14 0.1774 0.25 0.37 T 0.0 B 0.001 B 0.011 U 0.000 P -1.175 N 1.97 T -0.941 T 0.000 T 0.034 1.329 10.36 2.59 1.371 2.127 4.583 1.329111 1.329111 1 0.165736 0.134135 NA 0.152 NA 11.8320974 471 1 75702736 75702736 C A exonic SLC44A5 NA nonsynonymous SNV SLC44A5:NM_001130058:exon11:c.G676T:p.D226Y,SLC44A5:NM_152697:exon11:c.G676T:p.D226Y exonic ENSG00000137968 NA nonsynonymous SNV ENSG00000137968:ENST00000535611:exon8:c.G286T:p.D96Y,ENSG00000137968:ENST00000370855:exon11:c.G676T:p.D226Y,ENSG00000137968:ENST00000370859:exon11:c.G676T:p.D226Y NA NA 1p31.1 NA NA NA NA rs143251034 0.0009 0.0009 0.002 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0004 0.0028 0 D 0.982 D 0.891 P 0.202 N 0.998 D 2.175 M 2.84 T -1.038 T 0.045 T 0.374 1.643 11.45 -1.47 0.010 0.671 6.567 1.643121 1.643121 0.02 0.000116 0 NA NA NA 11.8318174 471 12 14976375 14976375 C T exonic C12orf60 NA nonsynonymous SNV C12orf60:NM_175874:exon2:c.C506T:p.T169I exonic ENSG00000182993 NA nonsynonymous SNV ENSG00000182993:ENST00000330828:exon2:c.C506T:p.T169I NA NA 12p12.3 Score=1000;Name=V$AML1_01 NA NA NA rs149459242 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0006 0.001 0.01 D 0.893 P 0.432 B 0.061 N 1.000 N 1.1 L 2.24 T -1.060 T 0.032 T 0.186 1.469 10.86 2.37 1.185 0.673 4.778 1.468777 1.468777 0.04 0.001047 0.000681 NA NA NA 11.8306864 471 17 76433899 76433899 G A exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon74:c.C11857T:p.H3953Y exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon74:c.C11839T:p.H3947Y,ENSG00000187775:ENST00000585328:exon74:c.C11842T:p.H3948Y Score=467;Name=lod=105 NA 17q25.3 NA NA NA NA rs61742072 0.13 0.13 0.093 0.105831 0.1889 0.1012 0.1095 0.0257 0.1309 0.19 0.1 0.13 0.06 0.1465 0.19 0.23 T 0.0 B 0.0 B 0.000 D 1.000 P 1.36 L 3.11 T -0.971 T 0.000 T 0.066 1.912 12.35 2.96 1.112 2.564 14.073 1.912274 1.912274 0.46 0.167287 0.046094 NA NA NA 11.8306464 472 15 82563991 82563991 C T exonic FAM154B NA nonsynonymous SNV FAM154B:NM_001008226:exon2:c.C101T:p.P34L exonic ENSG00000188659 NA nonsynonymous SNV ENSG00000188659:ENST00000339465:exon2:c.C101T:p.P34L,ENSG00000188659:ENST00000427381:exon3:c.C56T:p.P19L,ENSG00000188659:ENST00000565432:exon4:c.C140T:p.P47L Score=428;Name=lod=73 NA 15q25.2 NA NA NA NA rs16973457 0.37 0.37 0.383 0.373802 0.5497 0.1994 0.317 0.3154 0.4918 0.55 0.19 0.36 0.29 0.447 0.55 0.3 T 0.936 P 0.704 P 0.006 N 0.000 P 1.935 M 2.01 T -0.907 T 0.000 T 0.274 2.688 14.95 3.93 2.481 3.564 7.259 2.68788 2.68788 0.13 0.515465 0.359737 NA 0.457 NA 11.8211684 472 11 63991801 63991801 T C exonic TRPT1 NA nonsynonymous SNV TRPT1:NM_001160393:exon5:c.A515G:p.H172R,TRPT1:NM_031472:exon5:c.A368G:p.H123R,TRPT1:NM_001033678:exon6:c.A515G:p.H172R,TRPT1:NM_001160389:exon6:c.A521G:p.H174R,TRPT1:NM_001160390:exon6:c.A515G:p.H172R,TRPT1:NM_001160392:exon6:c.A515G:p.H172R exonic ENSG00000149743 NA nonsynonymous SNV ENSG00000149743:ENST00000546133:exon2:c.A137G:p.H46R,ENSG00000149743:ENST00000394547:exon5:c.A368G:p.H123R,ENSG00000149743:ENST00000546089:exon5:c.A368G:p.H123R,ENSG00000149743:ENST00000317459:exon6:c.A515G:p.H172R,ENSG00000149743:ENST00000394546:exon6:c.A521G:p.H174R,ENSG00000149743:ENST00000541278:exon6:c.A515G:p.H172R,ENSG00000149743:ENST00000545812:exon6:c.A521G:p.H174R NA Name=Attention deficit hyperactivity disorder 11q13.1 NA Name=Pol2-4H8,Pol2(b) Name=28 NA rs1059440 0.17 0.17 0.144 0.153355 0.171 0.1766 0.3242 0.0915 0.0736 0.17 0.17 0.29 0.08 0.1698 0.29 0.14 T 0.103 B 0.047 B 0.002 N 1.000 P 0 N 1.06 T -0.989 T 0.000 T 0.261 1.767 11.87 2.59 0.906 3.865 6.109 1.766573 1.766573 0.05 0.172562 0.105407 NA 0.116 NA 11.8199714 472 10 15008493 15008493 A C exonic MEIG1 NA nonsynonymous SNV MEIG1:NM_001080836:exon2:c.A26C:p.K9T exonic ENSG00000197889 NA nonsynonymous SNV ENSG00000197889:ENST00000378240:exon1:c.A26C:p.K9T,ENSG00000197889:ENST00000407572:exon2:c.A26C:p.K9T Score=667;Name=lod=682 NA 10p13 NA NA NA NA rs4750568 0.58 0.58 0.555 0.611222 0.668 0.4802 0.732 0.5439 0.6933 0.66 0.45 0.72 0.5 0.6597 0.72 0.3 T 0.99 D 0.709 P 0.000 D 0.000 P . . 0.7 T -0.971 T 0.000 T 0.351 3.348 17.27 5.68 2.155 5.750 15.595 3.34787 3.34787 0.31 0.68814 0.584884 NA 0.623 NA 11.8174934 472 15 31294714 31294714 C A exonic TRPM1 NA stopgain TRPM1:NM_001252020:exon27:c.G4240T:p.E1414X,TRPM1:NM_002420:exon27:c.G4123T:p.E1375X,TRPM1:NM_001252024:exon28:c.G4189T:p.E1397X exonic ENSG00000134160 NA stopgain ENSG00000134160:ENST00000559177:exon8:c.G1468T:p.E490X,ENSG00000134160:ENST00000558768:exon25:c.G3895T:p.E1299X,ENSG00000134160:ENST00000397795:exon27:c.G4123T:p.E1375X,ENSG00000134160:ENST00000542188:exon27:c.G4240T:p.E1414X,ENSG00000134160:ENST00000558445:exon27:c.G4123T:p.E1375X,ENSG00000134160:ENST00000256552:exon28:c.G4189T:p.E1397X NA NA 15q13.3 NA NA NA NA rs3784589 0.05 0.05 0.038 0.0682907 0.0616 0.0169 0.049 0.0772 0.1299 0.05 0.02 0.07 0.07 0.0653 0.079 0.25 T . . . . 0.072 N 1.000 D . . . . . . . . . 7.318 39 5.05 2.341 2.601 11.870 7.318356 7.318356 0.41 0.056519 0.079275 NA 0.051 NA 11.816581 472 1 114680310 114680310 G A exonic SYT6 NA nonsynonymous SNV SYT6:NM_001270805:exon3:c.C623T:p.T208I,SYT6:NM_205848:exon3:c.C623T:p.T208I exonic ENSG00000134207 NA nonsynonymous SNV ENSG00000134207:ENST00000369547:exon3:c.C623T:p.T208I,ENSG00000134207:ENST00000393296:exon3:c.C878T:p.T293I Score=607;Name=lod=389 NA 1p13.2 NA NA NA NA rs41274114 0.17 0.17 0.165 0.164736 0.175 0.0784 0.1902 0.2042 0.1718 0.18 0.09 0.2 0.22 0.1644 0.22 0.27 T 0.022 B 0.101 B 0.000 D 0.000 P 0.515 N -0.31 T -0.973 T 0.128 T 0.243 2.721 15.06 5.45 2.567 5.813 19.29 2.721352 2.721352 0.38 0.177674 0.19882 NA 0.225 NA 11.8162594 473 1 152282311 152282311 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G5051A:p.R1684H exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G5051A:p.R1684H NA NA 1q21.3 NA NA NA NA rs12407807 0.27 0.27 0.229 0.296725 0.1421 0.5843 0.3905 0.0461 0.4315 0.15 0.59 0.33 0.07 0.232 0.59 0.3 T 0.999 D 0.974 D . . 1.000 P 0.255 N 3.73 T -1.019 T 0.006 T 0.105 1.575 11.22 -5.01 -0.996 -2.483 5.650 1.575161 1.575161 0.26 0.144302 0.06877 NA 0.181 NA 11.8149314 473 12 121618257 121618257 C G exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon12:c.C1289G:p.P430R exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000541446:exon10:c.C422G:p.P141R,ENSG00000089041:ENST00000328963:exon11:c.C779G:p.P260R,ENSG00000089041:ENST00000546057:exon12:c.C1289G:p.P430R,ENSG00000089041:ENST00000535250:exon13:c.C1019G:p.P340R Score=374;Name=lod=44 NA 12q24.31 NA NA NA NA rs10160951 0.04 0.04 0.036 0.0423323 0.003 NA 0.0058 0.1551 NA 0.0013 NA 0.01 0.15 0.0146 0.15 0.07 T 0.867 P 0.408 B 0.003 N 0.000 P 2.3 M 4.45 T -1.011 T 0.000 T 0.765 2.582 14.59 4.71 1.374 0.650 10.498 2.581709 2.581709 0.07 0.003023 0.137767 NA 0.043 NA 11.8127104 473 12 52912909 52912909 G T exonic KRT5 NA nonsynonymous SNV KRT5:NM_000424:exon2:c.C591A:p.D197E exonic ENSG00000186081 NA nonsynonymous SNV ENSG00000186081:ENST00000252242:exon2:c.C591A:p.D197E,ENSG00000186081:ENST00000549420:exon3:c.C261A:p.D87E Score=569;Name=lod=273 NA 12q13.13 Score=708;Name=V$PPARG_02 NA NA NA rs641615 0.25 0.25 0.085 0.215056 0.2823 0.3393 0.2233 0.1089 0.1554 0.27 0.35 0.25 0.12 0.2412 0.35 1 T 0.03 B 0.012 B 0.000 D 0.943 P -3.76 N -0.64 T -0.921 T 0.000 T 0.535 0.268 5.448 2.41 0.792 0.484 7.437 0.267812 NA 1 NA NA NA 0.275 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056634.1;CLNDSDB=.;CLNDSDBID=. 11.8098334 473 11 82564294 82564294 T G exonic PRCP NA nonsynonymous SNV PRCP:NM_005040:exon3:c.A336C:p.E112D,PRCP:NM_199418:exon4:c.A399C:p.E133D exonic ENSG00000137509 NA nonsynonymous SNV ENSG00000137509:ENST00000531128:exon2:c.A21C:p.E7D,ENSG00000137509:ENST00000534264:exon2:c.A21C:p.E7D,ENSG00000137509:ENST00000534631:exon2:c.A21C:p.E7D,ENSG00000137509:ENST00000535099:exon2:c.A21C:p.E7D,ENSG00000137509:ENST00000313010:exon3:c.A336C:p.E112D,ENSG00000137509:ENST00000527444:exon3:c.A21C:p.E7D,ENSG00000137509:ENST00000528082:exon3:c.A21C:p.E7D,ENSG00000137509:ENST00000529671:exon3:c.A213C:p.E71D,ENSG00000137509:ENST00000531801:exon3:c.A21C:p.E7D,ENSG00000137509:ENST00000532809:exon3:c.A174C:p.E58D,ENSG00000137509:ENST00000533126:exon3:c.A21C:p.E7D,ENSG00000137509:ENST00000393399:exon4:c.A399C:p.E133D,ENSG00000137509:ENST00000534396:exon4:c.A21C:p.E7D Score=605;Name=lod=383 NA 11q14.1 NA Name=PU.1 NA NA rs2229437 0.14 0.14 0.137 0.139377 0.1869 0.1131 0.1297 0.1051 0.1708 0.19 0.1 0.14 0.1 0.1581 0.19 . . 0.087 B 0.081 B 0.000 D 0.000 P 2.01 M 2.4 T -1.042 T 0.000 T 0.481 2.569 14.55 2.94 0.864 0.547 7.228 2.569018 2.569018 0.03 0.179651 0.128234 NA 0.188 NA 11.8086824 474 17 80543972 80543972 C T exonic FOXK2 NA nonsynonymous SNV FOXK2:NM_004514:exon7:c.C1472T:p.A491V exonic ENSG00000141568 NA nonsynonymous SNV ENSG00000141568:ENST00000335255:exon7:c.C1472T:p.A491V,ENSG00000141568:ENST00000473637:exon7:c.C1472T:p.A491V NA NA 17q25.3 NA NA NA NA rs12150682 0.0041 0.0041 0.008 0.00379393 0.0159 NA 0.0014 0.0015 NA 0.01 NA 0.0028 NA 0.0055 0.011 0.05 D 0.83 P 0.221 B 0.005 N 1.000 N 0.69 N -3.34 D -0.295 T 0.481 T 0.665 2.139 13.11 3.37 0.824 2.432 9.069 2.138568 2.138568 0.06 0.008394 0.001137 NA 0.007 NA 11.8035394 474 15 63970456 63970456 T C exonic HERC1 NA nonsynonymous SNV HERC1:NM_003922:exon37:c.A6658G:p.I2220V exonic ENSG00000103657 NA nonsynonymous SNV ENSG00000103657:ENST00000443617:exon37:c.A6658G:p.I2220V Score=608;Name=lod=395 NA 15q22.31 NA NA NA NA rs2228510 0.36 0.36 0.328 0.366014 0.5368 0.0704 0.4395 0.4599 0.316 0.5 0.07 0.43 0.42 0.4493 0.55 0.01 D 0.001 B 0.001 B 0.001 D 0.009 P 1.1 L 1.6 T -0.946 T 0.000 T 0.117 2.237 13.44 4.56 0.977 2.202 11.829 2.237397 2.237397 0.14 0.548107 0.470725 ID=COSM147939;OCCURENCE=1(stomach) 0.348 NA 11.7991264 474 1 159505101 159505101 G A exonic OR10J5 NA nonsynonymous SNV OR10J5:NM_001004469:exon1:c.C697T:p.R233W exonic ENSG00000184155 NA nonsynonymous SNV ENSG00000184155:ENST00000334857:exon1:c.C697T:p.R233W NA NA 1q23.2 NA NA NA NA rs35393723 0.1 0.1 0.085 0.0984425 0.1869 0.0248 0.1556 0.0257 0.1411 0.2 0.01 0.14 0.01 0.1618 0.2 0.01 D 0.145 B 0.045 B . . 1.000 P 2.14 M 8.06 T -1.027 T 0.000 T 0.038 -0.465 1.851 -7.29 -2.366 -1.216 5.142 -0.465148 NA 0.07 0.185581 0.050613 NA 0.116 NA 11.7990524 475 10 50531137 50531137 A T exonic C10orf71 NA nonsynonymous SNV C10orf71:NM_001135196:exon3:c.A547T:p.S183C exonic ENSG00000177354 NA nonsynonymous SNV ENSG00000177354:ENST00000323868:exon3:c.A547T:p.S183C,ENSG00000177354:ENST00000374144:exon3:c.A547T:p.S183C NA NA 10q11.23 NA NA NA NA rs41281949 0.01 0.01 0.007 0.00758786 0.0179 NA 0.0144 0.0008 0.0092 0.02 NA 0.01 0.002 0.0079 0.02 0.01 D 0.992 D 0.613 P 0.003 N 1.000 N 0 N 3.55 T -1.076 T 0.015 T 0.14 2.753 15.17 3.24 0.493 1.979 8.458 2.752975 2.752975 0.01 0.012713 0.002005 NA NA NA 11.7948204 475 2 11706672 11706672 C T exonic GREB1 NA nonsynonymous SNV GREB1:NM_014668:exon4:c.C344T:p.A115V,GREB1:NM_033090:exon4:c.C344T:p.A115V,GREB1:NM_148903:exon4:c.C344T:p.A115V exonic ENSG00000196208 NA nonsynonymous SNV ENSG00000196208:ENST00000234142:exon3:c.C344T:p.A115V,ENSG00000196208:ENST00000389825:exon3:c.C14T:p.A5V,ENSG00000196208:ENST00000263834:exon4:c.C344T:p.A115V,ENSG00000196208:ENST00000381483:exon4:c.C344T:p.A115V,ENSG00000196208:ENST00000381486:exon4:c.C344T:p.A115V NA NA 2p25.1 NA NA NA NA rs142882892 0.0046 0.0046 0.006 0.00479233 0.0109 NA 0.0072 0.0008 0.0072 0.01 NA 0.0028 0.002 0.012 0.018 0.05 D 0.846 P 0.246 B 0.029 N 1.000 N 1.585 L 3.06 T -1.014 T 0.063 T 0.044 2.597 14.65 4.63 1.337 5.952 14.603 2.597412 2.597412 0.03 0.018256 0.004539 NA NA NA 11.7921774 475 12 52863213 52863213 C T exonic KRT6C NA nonsynonymous SNV KRT6C:NM_173086:exon8:c.G1441A:p.V481I exonic ENSG00000170465 NA nonsynonymous SNV ENSG00000170465:ENST00000252250:exon8:c.G1441A:p.V481I Score=431;Name=lod=75 NA 12q13.13 NA NA NA NA rs412533 0.33 0.33 0.313 0.249601 0.3628 0.4812 0.2637 0.0242 0.1892 0.36 0.56 0.32 0.04 0.3149 0.56 0.17 T 0.824 P 0.08 B 0.000 D 0.979 P 1.7 L -3.05 D -0.943 T 0.000 T 0.057 1.81 12.01 3.57 1.983 0.864 11.804 1.809706 1.809706 0.21 0.367791 0.07172 NA 0.304 NA 11.7878424 475 12 6567907 6567907 C T exonic TAPBPL NA nonsynonymous SNV TAPBPL:NM_018009:exon5:c.C1001T:p.T334M exonic ENSG00000139192 NA nonsynonymous SNV ENSG00000139192:ENST00000266556:exon5:c.C1001T:p.T334M Score=363;Name=lod=40 NA 12p13.31 Score=1000;Name=V$ATF6_01 Name=Pol2 NA NA rs1045546 0.1 0.1 0.074 0.0970447 0.1819 0.0089 0.1196 0.0076 0.2055 0.19 0.01 0.16 0.01 0.1672 0.2 0.09 T 0.24 B 0.086 B 0.057 N 0.000 P 2.055 M 3.96 T -0.984 T 0.000 T 0.138 1.192 9.846 3.38 0.691 -0.172 7.175 1.192328 NA 0.02 0.198605 0.039492 NA 0.072 NA 11.7856284 476 2 219507166 219507166 G A exonic ZNF142 NA nonsynonymous SNV ZNF142:NM_001105537:exon8:c.C4073T:p.A1358V exonic ENSG00000115568 NA nonsynonymous SNV ENSG00000115568:ENST00000411696:exon7:c.C4073T:p.A1358V,ENSG00000115568:ENST00000449707:exon8:c.C4073T:p.A1358V Score=425;Name=lod=71 NA 2q35 NA NA NA NA rs114603798 0.01 0.01 0.013 0.0145767 0.0179 NA 0.0159 NA 0.045 0.02 NA 0.02 NA 0.0181 0.02 0.2 T 0.78 P 0.265 B 0.001 N 0.950 N -0.18 N 1.71 T -1.080 T 0.014 T 0.047 2.219 13.38 3.51 1.497 2.126 8.817 2.218753 2.218753 0.07 0.018875 0.002581 NA 0.007 NA 11.7784584 477 5 141019569 141019569 G C exonic RELL2 NA nonsynonymous SNV RELL2:NM_173828:exon5:c.G586C:p.G196R,RELL2:NM_001130029:exon6:c.G586C:p.G196R exonic ENSG00000164620 NA nonsynonymous SNV ENSG00000164620:ENST00000297164:exon5:c.G586C:p.G196R,ENSG00000164620:ENST00000518856:exon5:c.G388C:p.G130R,ENSG00000164620:ENST00000521367:exon5:c.G388C:p.G130R,ENSG00000164620:ENST00000444782:exon6:c.G586C:p.G196R Score=455;Name=lod=94 NA 5q31.3 Score=772;Name=V$HEN1_01 NA NA NA rs17855844 0.16 0.16 0.137 0.183906 0.161 0.1468 0.2205 0.1225 0.3027 0.17 0.13 0.22 0.14 0.2037 0.22 0.18 T 0.665 P 0.531 P 0.115 N 0.000 P 0.69 N 2.43 T -0.976 T 0.000 T 0.164 2.923 15.74 3.11 1.026 -0.127 5.099 2.923004 2.923004 0.42 0.19458 0.137313 NA 0.116 NA 11.7740534 477 4 155491759 155491759 G A exonic FGB NA nonsynonymous SNV FGB:NM_001184741:exon8:c.G1256A:p.R419K,FGB:NM_005141:exon8:c.G1433A:p.R478K exonic ENSG00000171564 NA nonsynonymous SNV ENSG00000171564:ENST00000509493:exon6:c.G776A:p.R259K,ENSG00000171564:ENST00000302068:exon8:c.G1433A:p.R478K Score=522;Name=lod=177 NA 4q31.3 NA NA NA NA rs4220 0.17 0.17 0.149 0.153355 0.1998 0.2242 0.1499 0.0756 0.1401 0.21 0.18 0.2 0.09 0.1732 0.21 1 T 0.0 B 0.002 B 0.000 N 1.000 P -1.75 N -1.19 T -1.068 T 0.000 T 0.072 0.051 4.277 -2.97 -1.030 3.223 7.404 0.050543 NA 1 0.189884 0.088516 NA 0.167 CLINSIG=other;CLNDBN=FIBRINOGEN_BALTIMORE_2;CLNREVSTAT=single;CLNACC=RCV000017808.1;CLNDSDB=.;CLNDSDBID=. 11.7704494 478 4 844781 844781 G A exonic GAK NA synonymous SNV GAK:NM_005255:exon26:c.C3600T:p.T1200T exonic ENSG00000178950 NA nonsynonymous SNV ENSG00000178950:ENST00000504668:exon2:c.C197T:p.P66L Score=391;Name=lod=52 NA 4p16.3 Score=865;Name=V$COUP_01 NA NA NA rs75072999 0.03 0.03 0.033 0.0267572 0.0835 NA 0.036 0.0015 0.0235 0.07 NA 0.04 0.0041 0.0606 0.093 0 D . . . . . . 1.000 D . . . . -0.950 T 0.021 T . 1.853 12.15 2.33 0.625 0.666 11.037 1.852878 1.852878 NA 0.093256 0.020881 ID=COSM287830;OCCURENCE=1(large_intestine) 0.043 NA 11.762644 478 12 20905250 20905250 C T exonic SLCO1C1 NA nonsynonymous SNV SLCO1C1:NM_001145944:exon13:c.C1676T:p.S559F,SLCO1C1:NM_001145946:exon16:c.C2030T:p.S677F exonic ENSG00000139155 NA nonsynonymous SNV ENSG00000139155:ENST00000545102:exon13:c.C1676T:p.S559F,ENSG00000139155:ENST00000381552:exon15:c.C2030T:p.S677F,ENSG00000139155:ENST00000545604:exon16:c.C2030T:p.S677F Score=443;Name=lod=84 NA 12p12.2 NA NA NA NA rs6487138 0.48 0.48 0.444 0.469449 0.495 0.5923 0.5677 0.2012 0.6094 0.51 0.63 0.53 0.22 0.5359 0.63 0.04 D 0.946 P 0.789 P 0.004 N 0.000 P . . 1.11 T -0.920 T 0.000 T 0.217 3.12 16.43 5.37 2.797 2.654 16.148 3.120305 3.120305 0 0.540833 0.247956 NA 0.536 NA 11.7616004 478 1 153271621 153271621 G A exonic PGLYRP3 NA nonsynonymous SNV PGLYRP3:NM_052891:exon6:c.C815T:p.A272V exonic ENSG00000159527 NA nonsynonymous SNV ENSG00000159527:ENST00000290722:exon6:c.C815T:p.A272V Score=426;Name=lod=72 NA 1q21.3 NA NA NA NA rs34391119 0.01 0.01 0.011 0.00778754 0.0298 NA 0.0072 0.0015 0.002 0.03 NA 0.01 0.01 0.0174 0.03 0 D 0.999 D 0.898 P 0.051 N 0.831 N 2.675 M 2.21 T -1.055 T 0.064 T 0.261 3.455 17.7 1.15 0.332 0.737 13.095 3.454835 3.454835 0.01 0.027674 0.004312 NA 0.014 NA 11.7584594 478 3 125648356 125648356 T C exonic ALG1L NA nonsynonymous SNV ALG1L:NM_001015050:exon6:c.A403G:p.N135D,ALG1L:NM_001195223:exon7:c.A463G:p.N155D exonic ENSG00000189366 NA nonsynonymous SNV ENSG00000189366:ENST00000340333:exon6:c.A403G:p.N135D Score=366;Name=lod=41 NA 3q21.2 NA NA NA NA rs3828357 0.29 0.29 0.291 0.277157 0.3738 0.245 0.2738 0.2262 0.2822 0.37 0.26 0.27 0.24 0.3402 0.37 0.19 T 0.594 P 0.164 B 0.001 D 0.000 P 1.005 L -0.48 T -0.998 T 0.000 T 0.019 1.952 12.49 2.3 1.057 4.720 8.154 1.952222 1.952222 0.16 0.361003 0.268978 NA 0.196 NA 11.7583304 479 1 231408091 231408091 A G exonic GNPAT NA nonsynonymous SNV GNPAT:NM_014236:exon11:c.A1556G:p.D519G exonic ENSG00000116906 NA nonsynonymous SNV ENSG00000116906:ENST00000366646:exon10:c.A1373G:p.D458G,ENSG00000116906:ENST00000366647:exon11:c.A1556G:p.D519G,ENSG00000116906:ENST00000416000:exon11:c.A1526G:p.D509G NA NA 1q42.2 NA Name=c-Fos,c-Jun Name=19 NA rs11558492 0.14 0.14 0.126 0.135583 0.2127 0.1002 0.1729 0.0688 0.1564 0.19 0.1 0.2 0.08 0.1612 0.21 0.05 D 0.075 B 0.034 B 0.037 N 0.998 P 1.04 L -0.1 T -1.082 T 0.000 T 0.228 1.77 11.88 -0.263 -0.134 1.947 9.158 1.770311 1.770311 0.15 0.205814 0.091693 NA 0.101 CLINSIG=pathogenic;CLNDBN=Rhizomelic_chondrodysplasia_punctata_type_2;CLNREVSTAT=single;CLNACC=RCV000029140.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1857242:222765:ORPHA177 11.7536194 479 1 32557486 32557486 A G exonic TMEM39B NA synonymous SNV TMEM39B:NM_018056:exon6:c.A801G:p.S267S exonic ENSG00000121775 NA nonsynonymous SNV ENSG00000121775:ENST00000441402:exon4:c.A562G:p.T188A,ENSG00000121775:ENST00000456834:exon5:c.A646G:p.T216A Score=585;Name=lod=319 NA 1p35.1 NA NA Name=2 NA rs744455 0.17 0.17 0.162 0.223642 0.0596 0.2351 0.232 0.2927 0.2812 0.06 0.23 0.14 0.3 0.1241 0.3 0 D . . . . . . 0.000 P . . . . -1.012 T 0.000 T . 2.149 13.14 -10.3 -2.042 -1.285 2.614 2.14881 2.14881 0 0.065116 0.268724 NA 0.217 NA 11.751184 479 3 108634973 108634973 C A splicing GUCA1C NM_005459:exon4:c.442+1G>T NA NA exonic;splicing ENSG00000138472;ENSG00000138472 ENST00000261047:exon4:c.442+1G>T nonsynonymous SNV ENSG00000138472:ENST00000393963:exon3:c.G443T:p.G148V,ENSG00000138472:ENST00000471108:exon3:c.G443T:p.G148V Score=321;Name=lod=27 NA 3q13.13 NA NA NA NA rs10933973 0.26 0.26 0.257 0.249601 0.3042 0.1806 0.3084 0.2519 0.2198 0.3 0.22 0.3 0.2 0.2991 0.31 0 D 1.0 D 0.995 D . . 0.000 P . . -1.8 D -1.079 T 0.000 T 0.622 2.434 14.1 -0.274 -0.323 1.417 7.715 2.433951 2.433951 0 0.313488 0.270767 NA 0.167 NA 11.7498787 479 21 37518706 37518706 G A exonic CBR3 NA nonsynonymous SNV CBR3:NM_001236:exon3:c.G730A:p.V244M exonic ENSG00000159231 NA nonsynonymous SNV ENSG00000159231:ENST00000290354:exon3:c.G730A:p.V244M Score=414;Name=lod=64 NA 21q22.12 NA NA NA NA rs1056892 0.38 0.38 0.392 0.427117 0.3539 0.4048 0.2608 0.5098 0.5317 0.36 0.41 0.29 0.47 0.3742 0.47 0.05 D 0.622 P 0.141 B 0.001 D 0.898 P 2.185 M 2.87 T -0.904 T 0.000 T 0.063 2.341 13.78 0.552 0.567 2.055 11.334 2.340505 2.340505 0.07 0.359767 0.474807 NA 0.304 NA 11.7454664 480 1 152749091 152749091 C T exonic LCE1F NA nonsynonymous SNV LCE1F:NM_178354:exon1:c.C244T:p.R82W exonic ENSG00000240386 NA nonsynonymous SNV ENSG00000240386:ENST00000334371:exon1:c.C244T:p.R82W Score=435;Name=lod=78 NA 1q21.3 NA NA NA NA rs41268480 0.1 0.1 0.079 0.0908546 0.2117 0.0278 0.1311 0.0053 0.1186 0.22 0.02 0.12 0.01 0.1691 0.22 0 D 0.968 D 0.335 B . . 0.982 P 1.59 L 3.79 T -0.980 T 0.009 T 0.111 1.334 10.38 4.45 2.445 0.406 12.773 1.333655 1.333655 NA 0.214851 0.036574 NA 0.065 NA 11.7376824 480 6 47649265 47649265 T A exonic GPR111 NA nonsynonymous SNV GPR111:NM_153839:exon7:c.T766A:p.L256M exonic ENSG00000164393 NA nonsynonymous SNV ENSG00000164393:ENST00000398742:exon5:c.T766A:p.L256M,ENSG00000164393:ENST00000296862:exon6:c.T970A:p.L324M,ENSG00000164393:ENST00000507065:exon6:c.T766A:p.L256M,ENSG00000164393:ENST00000467205:exon7:c.T766A:p.L256M NA NA 6p12.3 NA NA NA NA rs17541107 0.44 0.44 0.41 0.397564 0.3678 0.6915 0.5331 0.236 0.2474 0.38 0.7 0.48 0.22 0.3802 0.7 0.18 T 0.973 D 0.807 P 0.415 N 1.000 P 2.28 M 0.91 T -0.992 T 0.086 T 0.091 2.287 13.6 -6.69 -1.925 -1.302 9.618 2.28673 2.28673 0.11 0.348058 0.280507 NA 0.442 NA 11.7372754 480 15 56208463 56208463 A C exonic NEDD4 NA nonsynonymous SNV NEDD4:NM_198400:exon1:c.T567G:p.S189R exonic ENSG00000069869 NA nonsynonymous SNV ENSG00000069869:ENST00000338963:exon1:c.T567G:p.S189R,ENSG00000069869:ENST00000506154:exon1:c.T567G:p.S189R,ENSG00000069869:ENST00000508342:exon1:c.T567G:p.S189R Score=399;Name=lod=56 NA 15q21.3 NA NA Name=68 NA rs113176671 0.01 0.01 0.015 0.00998403 0.0368 0.001 0.0115 0.0015 0.002 0.04 NA 0.01 NA 0.0242 0.04 0 D 0.835 P 0.398 B . . 1.000 N 1.04 L 1.01 T -1.008 T 0.024 T 0.275 3.24 16.86 -2.59 -0.280 0.639 13.311 3.23983 3.23983 0 0.035423 0.00456 NA 0.014 NA 11.7369104 480 17 6690164 6690164 A G exonic FBXO39 NA nonsynonymous SNV FBXO39:NM_153230:exon3:c.A1089G:p.I363M exonic ENSG00000177294 NA nonsynonymous SNV ENSG00000177294:ENST00000321535:exon3:c.A1089G:p.I363M Score=536;Name=lod=201 NA 17p13.1 NA Name=CTCF,Pol2,c-Fos,c-Jun Name=101 NA rs7213731 0.15 0.15 0.146 0.150759 0.2167 0.002 0.2003 0.1989 0.136 0.22 0.0017 0.21 0.19 0.1825 0.22 0.27 T 0.001 B 0.004 B 0.062 N 1.000 P 0 N 0.63 T -1.039 T 0.000 T 0.263 1.536 11.09 -6.49 -1.087 -0.129 12.722 1.536159 1.536159 0.22 0.198372 0.196096 NA 0.159 NA 11.7357614 481 17 39884065 39884065 C A exonic HAP1 NA nonsynonymous SNV HAP1:NM_177977:exon8:c.G1224T:p.L408F exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000310778:exon8:c.G1224T:p.L408F,ENSG00000173805:ENST00000347901:exon8:c.G1224T:p.L408F Score=423;Name=lod=70 NA 17q21.2 NA NA NA NA rs35612698 0.26 0.26 0.259 0.236422 0.4016 0.1935 0.2493 0.1793 0.1789 0.39 0.15 0.29 0.17 0.3041 0.39 0.01 D 0.99 D 0.901 P . . 0.000 P 2.455 M 1.3 T -0.976 T 0.000 T 0.156 2.506 14.34 1.28 1.809 0.135 3.458 2.50598 2.50598 0.05 0.39314 0.213118 NA 0.246 NA 11.7344934 482 17 4936898 4936898 C T exonic SLC52A1 NA nonsynonymous SNV SLC52A1:NM_001104577:exon3:c.G886A:p.V296M,SLC52A1:NM_017986:exon3:c.G886A:p.V296M exonic ENSG00000132517 NA nonsynonymous SNV ENSG00000132517:ENST00000254853:exon3:c.G886A:p.V296M,ENSG00000132517:ENST00000424747:exon3:c.G886A:p.V296M,ENSG00000132517:ENST00000512825:exon3:c.G886A:p.V296M Score=583;Name=lod=313 NA 17p13.2 NA NA NA NA rs2304445 0.27 0.27 0.263 0.30651 0.1909 0.506 0.2565 0.1172 0.5112 0.19 0.5 0.25 0.13 0.2482 0.5 0.05 D 1.0 D 0.983 D 0.000 D 0.001 P 1.69 L -0.9 T -0.957 T 0.000 T 0.136 2.108 13.01 -0.105 -0.032 0.399 3.634 2.108368 2.108368 0 0.171628 0.120971 ID=COSM1384504;OCCURENCE=1(large_intestine) 0.181 NA 11.7226054 482 12 4735969 4735969 G A exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.C2099T:p.S700F exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000228850:exon4:c.C2099T:p.S700F,ENSG00000111254:ENST00000545990:exon5:c.C2099T:p.S700F Score=358;Name=lod=38 NA 12p13.32 NA NA Name=8 NA rs2041291 NA NA NA 0.158347 0.1143 0.1647 0.1225 0.1248 0.2679 NA NA NA NA NA NA 0.06 T 0.96 D 0.765 P 0.397 N 1.000 N 2.015 M 2.95 T -1.018 T 0.061 T 0.392 1.359 10.47 0.415 -0.136 0.055 16.733 1.358997 1.358997 0.02 NA NA NA NA NA 11.7190334 482 19 38056574 38056574 T A exonic ZNF571 NA nonsynonymous SNV ZNF571:NM_016536:exon4:c.A756T:p.E252D exonic ENSG00000180479 NA nonsynonymous SNV ENSG00000180479:ENST00000328550:exon4:c.A756T:p.E252D,ENSG00000180479:ENST00000451802:exon4:c.A756T:p.E252D,ENSG00000180479:ENST00000593133:exon4:c.A756T:p.E252D,ENSG00000180479:ENST00000358744:exon5:c.A756T:p.E252D Score=300;Name=lod=22 NA 19q13.12 NA Name=KAP1,ZNF274,SETDB1 NA NA rs28512414 0.36 0.36 0.353 0.368211 0.168 0.6528 0.2637 0.3555 0.3722 0.17 0.65 0.25 0.41 0.2613 0.65 0.07 T 0.003 B 0.031 B . . 0.000 P 1.685 L 1.97 T -0.977 T 0.000 T 0.052 2.214 13.36 3.87 1.604 -1.471 7.564 2.213757 2.213757 0.01 0.185478 0.315252 NA 0.297 NA 11.7185554 483 9 4617999 4617999 G C exonic SPATA6L NA nonsynonymous SNV SPATA6L:NM_001039395:exon8:c.C745G:p.H249D exonic ENSG00000106686 NA nonsynonymous SNV ENSG00000106686:ENST00000475086:exon8:c.C745G:p.H249D,ENSG00000106686:ENST00000461761:exon9:c.C919G:p.H307D,ENSG00000106686:ENST00000454239:exon10:c.C919G:p.H307D,ENSG00000106686:ENST00000381895:exon12:c.C550G:p.H184D NA NA 9p24.1 NA Name=JunD Name=9 NA rs41302077 0.08 0.08 0.051 0.0636981 0.0398 0.0169 0.0879 0.0794 0.0982 0.07 0.04 0.1 0.14 0.0472 0.14 0.25 T 0.989 D 0.836 P 0.123 N 1.000 N 1.845 L 1.83 T -1.156 T 0.001 T 0.287 1.033 9.22 2.02 0.332 0.924 6.723 1.033151 NA 0.19 0.037064 0.06774 NA 0.101 NA 11.7092694 483 17 38935812 38935812 A G exonic KRT27 NA nonsynonymous SNV KRT27:NM_181537:exon5:c.T914C:p.I305T exonic ENSG00000171446 NA nonsynonymous SNV ENSG00000171446:ENST00000301656:exon5:c.T914C:p.I305T NA NA 17q21.2 NA Name=TBP,E2F6_(H-50) Name=12 NA rs981684 0.6 0.6 0.61 0.555711 0.5209 0.8254 0.6153 0.4531 0.41 0.52 0.83 0.58 0.45 0.5581 0.83 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.88 N -2.26 D -0.949 T 0.000 T 0.086 -0.748 0.822 5.52 1.483 2.487 14.010 -0.74815 NA 1 0.548023 0.458693 NA 0.464 NA 11.7063104 484 X 1314931 1314931 C T exonic CRLF2 NA nonsynonymous SNV CRLF2:NM_022148:exon6:c.G730A:p.V244M exonic ENSG00000205755 NA nonsynonymous SNV ENSG00000205755:ENST00000381567:exon6:c.G730A:p.V244M,ENSG00000205755:ENST00000400841:exon6:c.G730A:p.V244M NA NA Xp22.33 NA NA NA NA rs151218732 0.05 0.05 0.03418 NA NA NA NA NA NA 0.07 NA 0.06 0.08 0.0616 0.089 0.15 T 0.981 D 0.867 P 0.076 U 1.000 N . . -5.04 D 0.009 D 0.331 T 0.303 0.941 8.836 -2.96 -0.706 -0.399 0.322 0.941191 NA 0 0.067505 0.089381 NA 0.014 NA 11.7042284 485 21 47423509 47423509 C T exonic COL6A1 NA nonsynonymous SNV COL6A1:NM_001848:exon35:c.C2669T:p.S890L exonic ENSG00000142156 NA nonsynonymous SNV ENSG00000142156:ENST00000361866:exon35:c.C2669T:p.S890L NA NA 21q22.3 NA NA Name=11 NA rs13051496 0.15 0.15 0.164 0.108826 0.2604 0.0615 0.1196 0.0424 0.0838 0.27 0.07 0.14 0.07 0.1626 0.27 0.27 T 0.126 B 0.041 B 0.057 N 1.000 P -0.805 N -1.26 T -1.091 T 0.000 T 0.077 1.462 10.83 4.03 1.035 3.945 11.892 1.462082 1.462082 0.04 0.216213 0.055833 ID=COSM444607;OCCURENCE=1(breast) 0.058 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079802.2;CLNDSDB=.;CLNDSDBID=. 11.6941204 485 3 7494417 7494417 A T exonic GRM7 NA nonsynonymous SNV GRM7:NM_000844:exon6:c.A1298T:p.Y433F,GRM7:NM_181874:exon6:c.A1298T:p.Y433F exonic ENSG00000196277 NA nonsynonymous SNV ENSG00000196277:ENST00000445087:exon3:c.A269T:p.Y90F,ENSG00000196277:ENST00000357716:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000389335:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000389336:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000402647:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000403881:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000440923:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000467425:exon6:c.A1298T:p.Y433F,ENSG00000196277:ENST00000486284:exon6:c.A1298T:p.Y433F Score=289;Name=lod=20 NA 3p26.1 Score=879;Name=V$AP1_01 NA NA NA rs2229902 0.22 0.22 0.189 0.157348 0.4046 0.0744 0.2507 0.0272 0.0982 0.41 0.07 0.28 0.04 0.3052 0.44 0.7 T 0.523 P 0.239 B 0.017 N 0.187 P 0.995 L -1.66 D -0.981 T 0.000 T 0.125 1.214 9.927 3.39 0.414 2.335 6.541 1.213739 NA 0.41 0.435233 0.097821 NA 0.116 NA 11.6883004 485 2 234432017 234432017 A G exonic USP40 NA nonsynonymous SNV USP40:NM_018218:exon15:c.T2033C:p.V678A exonic ENSG00000085982 NA nonsynonymous SNV ENSG00000085982:ENST00000427112:exon15:c.T1997C:p.V666A,ENSG00000085982:ENST00000450966:exon15:c.T2033C:p.V678A,ENSG00000085982:ENST00000251722:exon16:c.T1997C:p.V666A Score=313;Name=lod=25 NA 2q37.1 Score=911;Name=V$MYCMAX_02 NA NA NA rs838543 0.19 0.19 0.181 0.180112 0.2435 0.1458 0.134 0.2284 0.1176 0.23 0.12 0.13 0.25 0.1909 0.25 0.13 T 0.107 B 0.023 B . . 0.000 P 1.725 L 0.63 T -1.089 T 0.000 T 0.271 1.989 12.61 5.57 2.119 2.928 14.309 1.989024 1.989024 1 0.210696 0.21105 NA 0.159 NA 11.6882374 485 1 40363054 40363054 G C exonic MYCL1 NA nonsynonymous SNV MYCL1:NM_001033081:exon2:c.C1085G:p.T362S,MYCL1:NM_001033082:exon3:c.C1175G:p.T392S exonic ENSG00000116990 NA nonsynonymous SNV ENSG00000116990:ENST00000372816:exon2:c.C1085G:p.T362S,ENSG00000116990:ENST00000397332:exon3:c.C1175G:p.T392S Score=483;Name=lod=123 NA 1p34.2 Score=851;Name=V$NFY_C Name=TAF7_(SQ-8),ZNF263,TBP,GTF2B,HEY1 Name=4 NA rs3134614 0.95 0.95 0.954 0.935703 0.8917 1 0.9035 0.9962 0.8558 0.89 1 0.91 1 0.8865 1 0.71 T 0.0 B 0.0 B 0.000 N 0.000 P -0.345 N -0.9 T -0.955 T 0.000 T 0.063 -1.019 0.234 4.53 1.316 0.985 5.637 -1.018913 NA 1 0.867209 0.974807 NA 0.971 NA 11.6879244 485 19 8138054 8138054 C A exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon61:c.G7830T:p.E2610D exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon61:c.G7830T:p.E2610D,ENSG00000142449:ENST00000600128:exon62:c.G7830T:p.E2610D,ENSG00000142449:ENST00000601739:exon62:c.G7830T:p.E2610D Score=484;Name=lod=124 NA 19p13.2 NA Name=c-Myc,Max Name=11 NA rs7257948 0.6 0.6 0.595 0.579473 0.5586 0.3552 0.6441 0.8956 0.3589 0.57 0.4 0.64 0.87 0.5465 0.87 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.87 N 1.97 T -0.995 T 0.000 T 0.112 -1.328 0.032 -3.82 -2.290 -1.163 10.101 -1.328437 NA 1 0.540465 0.845438 ID=COSM1397709;OCCURENCE=1(large_intestine) 0.652 NA 11.6877684 485 7 134889141 134889141 G A exonic WDR91 NA nonsynonymous SNV WDR91:NM_014149:exon6:c.C770T:p.P257L exonic ENSG00000105875 NA nonsynonymous SNV ENSG00000105875:ENST00000344400:exon6:c.C770T:p.P257L,ENSG00000105875:ENST00000354475:exon6:c.C770T:p.P257L,ENSG00000105875:ENST00000423565:exon6:c.C665T:p.P222L Score=349;Name=lod=35 NA 7q33 NA NA Name=74 NA rs292592 0.65 0.65 0.639 0.655152 0.7087 0.6131 0.804 0.4955 0.7536 0.72 0.59 0.8 0.53 0.7135 0.8 0.42 T 0.899 P 0.365 B 0.000 D 0.000 P 0.975 L 1.37 T -1.024 T 0.000 T 0.319 4.597 25 5.4 2.548 6.474 17.370 4.596691 4.596691 0.23 0.723605 0.549932 ID=COSM324308;OCCURENCE=1(lung) 0.703 NA 11.6875284 485 16 71773190 71773190 G T exonic AP1G1 NA nonsynonymous SNV AP1G1:NM_001128:exon20:c.C2054A:p.P685H,AP1G1:NM_001030007:exon21:c.C2063A:p.P688H exonic ENSG00000166747 NA nonsynonymous SNV ENSG00000166747:ENST00000564155:exon4:c.C329A:p.P110H,ENSG00000166747:ENST00000299980:exon20:c.C2054A:p.P685H,ENSG00000166747:ENST00000393512:exon21:c.C2063A:p.P688H,ENSG00000166747:ENST00000423132:exon21:c.C2063A:p.P688H,ENSG00000166747:ENST00000433195:exon23:c.C2123A:p.P708H,ENSG00000166747:ENST00000569748:exon23:c.C2054A:p.P685H Score=608;Name=lod=396 NA 16q22.2 NA NA NA NA rs904763 0.18 0.18 0.175 0.240815 0.2127 0.1895 0.1945 0.1112 0.5307 0.2 0.2 0.22 0.12 0.2344 0.25 0.46 T 0.36 B 0.182 B 0.000 D 0.000 P 1.15 L 2.43 T -0.912 T 0.000 T 0.376 3.1 16.36 5.65 2.658 6.138 14.543 3.100175 3.100175 0.21 0.19907 0.125796 NA 0.174 NA 11.6871634 485 2 62067433 62067433 T C exonic FAM161A NA nonsynonymous SNV FAM161A:NM_001201543:exon3:c.A706G:p.I236V,FAM161A:NM_032180:exon3:c.A706G:p.I236V exonic ENSG00000170264 NA nonsynonymous SNV ENSG00000170264:ENST00000404929:exon3:c.A706G:p.I236V,ENSG00000170264:ENST00000405894:exon3:c.A706G:p.I236V Score=395;Name=lod=54 NA 2p15 NA NA NA NA rs17513722 0.15 0.15 0.133 0.116414 0.2227 0.0863 0.1427 0.0408 0.1217 0.23 0.1 0.18 0.05 0.1842 0.24 0.5 T 0.924 P 0.52 P 0.000 D 0.677 P 1.81 L 1.51 T -1.009 T 0.000 T 0.188 1.86 12.18 4.38 0.919 1.029 7.965 1.860464 1.860464 0.14 0.239588 0.074064 NA 0.072 NA 11.6868454 485 19 49116359 49116359 T C exonic FAM83E NA nonsynonymous SNV FAM83E:NM_017708:exon1:c.A271G:p.T91A exonic ENSG00000105523 NA nonsynonymous SNV ENSG00000105523:ENST00000263266:exon1:c.A271G:p.T91A,ENSG00000105523:ENST00000593772:exon2:c.A22G:p.T8A NA NA 19q13.33 NA Name=Pol2 Name=5 NA rs447802 0.49 0.49 NA 0.550919 0.2614 0.7431 0.4986 0.7277 0.4489 0.24 0.68 0.44 0.7 0.386 0.7 1 T 0.0 B 0.002 B 0.178 N 1.000 P 0.55 N 2.85 T -0.944 T 0.000 T 0.016 -0.215 2.961 -5.7 -1.443 -1.799 10.325 -0.214627 NA 0.87 NA NA ID=COSM439909;OCCURENCE=1(breast),1(large_intestine) 0.522 NA 11.6859334 486 10 91479211 91479211 G T exonic KIF20B NA nonsynonymous SNV KIF20B:NM_016195:exon13:c.G1470T:p.E490D exonic ENSG00000138182 NA nonsynonymous SNV ENSG00000138182:ENST00000260753:exon13:c.G1470T:p.E490D,ENSG00000138182:ENST00000371728:exon13:c.G1470T:p.E490D,ENSG00000138182:ENST00000394289:exon13:c.G1470T:p.E490D,ENSG00000138182:ENST00000416354:exon13:c.G1470T:p.E490D Score=363;Name=lod=40 NA 10q23.31 NA NA NA NA rs17484219 0.14 0.14 0.14 0.127196 0.2276 0.001 0.1859 0.0855 0.1687 0.23 0.0017 0.2 0.1 0.1905 0.23 0.46 T 0.602 P 0.491 P 0.002 N 0.987 P 2.33 M -0.24 T -1.033 T 0.000 T 0.055 1.173 9.772 3.72 0.668 1.059 3.831 1.17291 NA 0.35 0.230877 0.09673 NA 0.181 NA 11.6843564 486 17 39633349 39633349 G C exonic KRT35 NA nonsynonymous SNV KRT35:NM_002280:exon7:c.C1327G:p.P443A exonic ENSG00000197079 NA nonsynonymous SNV ENSG00000197079:ENST00000246639:exon7:c.C1237G:p.P413A,ENSG00000197079:ENST00000393989:exon7:c.C1327G:p.P443A Score=378;Name=lod=46 NA 17q21.2 Score=905;Name=V$SP1_Q6 NA NA NA rs2071601 0.52 0.52 0.474 0.548323 0.5388 0.3462 0.5432 0.6354 0.6524 0.54 0.31 0.6 0.66 0.5675 0.66 0.08 T 0.038 B 0.022 B 0.001 D 0.021 P 1.795 L -1.38 T -0.897 T 0.000 T 0.248 2.905 15.68 5.41 2.816 4.118 14.573 2.905373 2.905373 0.02 0.544617 0.617678 NA 0.565 NA 11.6824164 486 20 31673846 31673846 A G exonic BPIFB4 NA nonsynonymous SNV BPIFB4:NM_182519:exon5:c.A802G:p.I268V exonic ENSG00000186191 NA nonsynonymous SNV ENSG00000186191:ENST00000375483:exon5:c.A802G:p.I268V Score=439;Name=lod=81 NA 20q11.21 Score=860;Name=V$STAT5A_01 NA NA NA rs2070325 0.47 0.47 0.42 0.465455 0.3797 0.7569 0.4611 0.2693 0.5215 0.39 0.76 0.43 0.29 0.4094 0.76 0.15 T 0.677 P 0.42 B 0.001 N 0.457 P 1.445 L 3.29 T -1.175 T 0.000 T 0.245 2.766 15.21 3.94 1.649 3.418 9.115 2.766176 2.766176 0.06 0.36186 0.266228 NA 0.435 NA 11.6823734 486 4 156289917 156289917 G A exonic MAP9 NA nonsynonymous SNV MAP9:NM_001039580:exon5:c.C529T:p.R177W exonic ENSG00000164114 NA nonsynonymous SNV ENSG00000164114:ENST00000379248:exon4:c.C310T:p.R104W,ENSG00000164114:ENST00000311277:exon5:c.C529T:p.R177W,ENSG00000164114:ENST00000424373:exon5:c.C529T:p.R177W,ENSG00000164114:ENST00000433024:exon5:c.C526T:p.R176W,ENSG00000164114:ENST00000515654:exon5:c.C529T:p.R177W Score=391;Name=lod=52 NA 4q32.1 NA NA NA NA rs3733391 0.16 0.16 0.156 0.169529 0.2406 0.2054 0.1282 0.0197 0.2914 0.22 0.21 0.14 0.02 0.2074 0.22 0.04 D 0.116 B 0.011 B 0.736 N 0.184 P 2.045 M 1.98 T -1.088 T 0.000 T 0.256 1.968 12.54 3.12 0.496 2.687 6.310 1.968422 1.968422 0.06 0.206628 0.051067 ID=COSM1428168;OCCURENCE=1(large_intestine) 0.123 NA 11.6787054 486 8 121013770 121013770 A G exonic DEPTOR NA nonsynonymous SNV DEPTOR:NM_022783:exon5:c.A611G:p.N204S exonic ENSG00000155792 NA nonsynonymous SNV ENSG00000155792:ENST00000523492:exon3:c.A308G:p.N103S,ENSG00000155792:ENST00000286234:exon5:c.A611G:p.N204S Score=483;Name=lod=122 NA 8q24.12 Score=759;Name=V$MEF2_01 NA NA NA rs2271900 0.68 0.68 0.657 0.641174 0.7296 0.7093 0.7219 0.4743 0.6483 0.74 0.73 0.73 0.46 0.7032 0.74 0.39 T 0.507 P 0.338 B 0.000 D 0.000 P 1.175 L 2.49 T -1.122 T 0.000 T 0.191 2.346 13.8 3.58 1.112 4.774 8.909 2.345632 2.345632 0.31 0.722093 0.509986 NA 0.725 NA 11.6784404 486 5 174156168 174156168 T C exonic MSX2 NA nonsynonymous SNV MSX2:NM_002449:exon2:c.T386C:p.M129T exonic ENSG00000120149 NA nonsynonymous SNV ENSG00000120149:ENST00000239243:exon2:c.T386C:p.M129T Score=571;Name=lod=278 NA 5q35.2 Score=864;Name=V$GR_Q6 NA Name=3 NA rs4242182 0.79 0.79 0.757 0.765775 0.8797 0.9821 0.8516 0.3578 0.9162 0.89 0.98 0.84 0.37 0.8757 0.98 0.2 T 0.0 B 0.001 B 0.005 N 0.000 P 0.805 L -3.71 D -0.907 T 0.000 T 0.076 1.698 11.64 5.28 2.219 4.549 15.368 1.698414 1.698414 0.14 0.901395 0.470041 NA 0.71 NA 11.6765384 486 15 82555242 82555242 A G exonic FAM154B NA nonsynonymous SNV FAM154B:NM_001008226:exon1:c.A22G:p.S8G exonic ENSG00000188659 NA nonsynonymous SNV ENSG00000188659:ENST00000339465:exon1:c.A22G:p.S8G,ENSG00000188659:ENST00000566205:exon1:c.A22G:p.S8G,ENSG00000188659:ENST00000566861:exon1:c.A22G:p.S8G Score=309;Name=lod=24 NA 15q25.2 NA Name=Sin3Ak-20,Pbx3,ZNF263,c-Fos,ELK4,Pol2,Mxi1_(bHLH),SREBP1,ELF1_(SC-631) Name=145 NA rs11631813 0.17 0.17 0.165 0.207867 0.2028 0.1637 0.1282 0.1354 0.4131 0.22 0.17 0.14 0.11 0.2836 0.22 0.95 T 0.042 B 0.029 B 0.756 U 0.000 P 0 N 2.46 T -0.962 T 0.000 T 0.044 2.195 13.3 1.95 1.480 1.720 8.206 2.195442 2.195442 0.14 0.170698 0.144156 NA 0.217 NA 11.6762354 486 22 50686371 50686371 C T exonic HDAC10 NA nonsynonymous SNV HDAC10:NM_001159286:exon12:c.G1225A:p.V409I,HDAC10:NM_032019:exon13:c.G1285A:p.V429I exonic ENSG00000100429 NA nonsynonymous SNV ENSG00000100429:ENST00000448072:exon11:c.G1135A:p.V379I,ENSG00000100429:ENST00000454936:exon11:c.G1135A:p.V379I,ENSG00000100429:ENST00000349505:exon12:c.G1225A:p.V409I,ENSG00000100429:ENST00000216271:exon13:c.G1285A:p.V429I NA NA 22q13.33 NA Name=JunD,c-Fos,ZNF263,c-Jun,ELF1_(SC-631),eGFP-JunD,USF1_(SC-8983),Mxi1_(bHLH),Pol2 Name=104 NA rs34402301 0.03 0.03 0.021 0.0191693 0.0557 NA 0.0432 0.003 0.0061 0.06 NA 0.05 0.0041 0.0418 0.06 0.37 T 0.99 D 0.555 P 0.295 N 1.000 N 2.34 M 1.57 T -1.066 T 0.015 T 0.129 2.389 13.95 1.1 0.204 0.055 6.052 2.388992 2.388992 0.03 0.06 0.010894 NA NA NA 11.6758334 487 19 17366313 17366313 C T exonic USHBP1 NA nonsynonymous SNV USHBP1:NM_031941:exon10:c.G1573A:p.V525M exonic ENSG00000130307 NA nonsynonymous SNV ENSG00000130307:ENST00000431146:exon9:c.G1381A:p.V461M,ENSG00000130307:ENST00000252597:exon10:c.G1573A:p.V525M NA NA 19p13.11 NA Name=BHLHE40,USF-1 Name=39 NA rs12459398 0.27 0.27 0.275 0.269169 0.2197 0.2788 0.268 0.3132 0.2515 0.21 0.27 0.24 0.36 0.2353 0.36 0.11 T 0.047 B 0.004 B 0.040 N 1.000 P 0.69 N 2.25 T -0.956 T 0.000 T 0.063 0.423 6.299 -5.46 -1.191 -1.146 8.565 0.423219 NA 0.09 0.203488 0.305946 NA 0.283 NA 11.6748454 487 9 100823135 100823135 G C exonic NANS NA nonsynonymous SNV NANS:NM_018946:exon2:c.G204C:p.E68D exonic ENSG00000095380 NA nonsynonymous SNV ENSG00000095380:ENST00000210444:exon2:c.G204C:p.E68D Score=597;Name=lod=356 NA 9q22.33 Score=753;Name=V$STAT5A_02 NA NA NA rs1058446 0.23 0.23 0.233 0.192292 0.2207 0.2004 0.2622 0.2224 0.0644 0.22 0.22 0.24 0.24 0.1988 0.24 0.32 T 0.0 B 0.006 B 0.000 D 0.001 P -0.505 N 0.95 T -1.002 T 0.000 T 0.12 2.077 12.9 2.95 0.470 2.315 9.694 2.077207 2.077207 0.54 0.241279 0.212665 NA 0.239 NA 11.6725544 487 13 24167505 24167505 T A exonic TNFRSF19 NA nonsynonymous SNV TNFRSF19:NM_001204458:exon3:c.T91A:p.S31T,TNFRSF19:NM_018647:exon3:c.T91A:p.S31T,TNFRSF19:NM_148957:exon3:c.T91A:p.S31T exonic ENSG00000127863 NA nonsynonymous SNV ENSG00000127863:ENST00000248484:exon3:c.T91A:p.S31T,ENSG00000127863:ENST00000382258:exon3:c.T91A:p.S31T,ENSG00000127863:ENST00000382263:exon3:c.T91A:p.S31T Score=452;Name=lod=92 NA 13q12.12 NA NA Name=7 NA rs9550987 0.26 0.26 0.271 0.27516 0.2217 0.2421 0.1888 0.413 0.2393 0.22 0.27 0.2 0.34 0.2269 0.37 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.64 N 1.97 T -0.937 T 0.000 T 0.05 0.39 6.12 5.3 0.962 3.731 9.796 0.390465 NA 1 0.216512 0.368588 NA 0.341 NA 11.6682214 487 1 227921376 227921376 C T exonic JMJD4 NA synonymous SNV JMJD4:NM_001161465:exon4:c.G699A:p.P233P,JMJD4:NM_023007:exon4:c.G699A:p.P233P exonic ENSG00000081692 NA synonymous SNV ENSG00000081692:ENST00000366758:exon4:c.G699A:p.P233P,ENSG00000081692:ENST00000438896:exon4:c.G699A:p.P233P NA NA 1q42.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002534 NA . . . . . . . . 1.000 D . . . . -0.853 T 0.140 T . -0.045 3.784 -8.45 -1.873 -3.526 7.639 -0.045005 NA NA NA NA NA NA NA 11.6666413 488 17 56584508 56584508 T C exonic MTMR4 NA nonsynonymous SNV MTMR4:NM_004687:exon9:c.A838G:p.S280G exonic ENSG00000108389 NA nonsynonymous SNV ENSG00000108389:ENST00000323456:exon9:c.A838G:p.S280G,ENSG00000108389:ENST00000579925:exon9:c.A838G:p.S280G NA NA 17q22 NA Name=HNF4A NA NA rs2302190 0.28 0.28 0.282 0.328075 0.2187 0.3214 0.1398 0.4652 0.3957 0.22 0.29 0.16 0.44 0.2462 0.44 0.64 T 0.0 B 0.005 B 0.000 D 0.998 P 0 N -3.25 D -1.056 T 0.000 T 0.095 0.585 7.155 4.09 0.914 1.581 10.708 0.584622 NA 0.62 0.203488 0.417612 NA 0.188 NA 11.6649454 488 18 66513615 66513615 A G exonic CCDC102B NA nonsynonymous SNV CCDC102B:NM_024781:exon4:c.A893G:p.K298R,CCDC102B:NM_001093729:exon6:c.A893G:p.K298R exonic ENSG00000150636 NA nonsynonymous SNV ENSG00000150636:ENST00000584156:exon3:c.A893G:p.K298R,ENSG00000150636:ENST00000319445:exon4:c.A893G:p.K298R,ENSG00000150636:ENST00000360242:exon4:c.A893G:p.K298R,ENSG00000150636:ENST00000584775:exon6:c.A893G:p.K298R Score=435;Name=lod=78 NA 18q22.1 NA NA NA NA rs2187094 0.39 0.39 0.319 0.367812 0.4006 0.6438 0.4467 0.0703 0.3957 0.39 0.63 0.43 0.08 0.3888 0.63 0.47 T 0.889 P 0.399 B 0.000 D 0.000 P 1.125 L 2.44 T -1.060 T 0.000 T 0.262 0.956 8.901 4.4 1.043 2.635 9.504 0.956416 NA 0.26 0.382442 0.127326 ID=COSM148442;OCCURENCE=1(breast),1(stomach) 0.384 NA 11.6614914 488 20 31652292 31652292 G A exonic BPIFB3 NA nonsynonymous SNV BPIFB3:NM_182658:exon7:c.G682A:p.V228M exonic ENSG00000186190 NA nonsynonymous SNV ENSG00000186190:ENST00000375494:exon7:c.G682A:p.V228M Score=397;Name=lod=55 NA 20q11.21 NA NA NA NA rs4911290 0.49 0.49 0.454 0.490016 0.3867 0.756 0.4755 0.3464 0.5266 0.39 0.75 0.44 0.36 0.4225 0.75 0 D 0.472 P 0.181 B 0.034 N 0.998 P 2.135 M 3.27 T -1.117 T 0.000 T 0.194 0.779 8.111 2.63 0.569 1.284 13.137 0.778703 NA 0 0.365233 0.328416 NA 0.457 NA 11.6589004 488 11 102272839 102272839 C A exonic TMEM123 NA nonsynonymous SNV TMEM123:NM_052932:exon3:c.G256T:p.V86F exonic ENSG00000152558 NA nonsynonymous SNV ENSG00000152558:ENST00000361236:exon2:c.G199T:p.V67F,ENSG00000152558:ENST00000398136:exon3:c.G256T:p.V86F,ENSG00000152558:ENST00000526676:exon4:c.G130T:p.V44F NA NA 11q22.2 NA NA NA NA rs11547915 0.03 0.03 0.026 0.0195687 0.0616 0.004 0.0274 0.0015 0.0112 0.07 0.0035 0.02 0.0041 0.0449 0.071 0.03 D 0.848 P 0.423 B 0.000 N 1.000 N 0.69 N 1.82 T -1.063 T 0.010 T 0.274 3.117 16.42 -4.21 -1.099 -2.354 1.637 3.117415 3.117415 0.02 0.070559 0.011846 NA 0.014 NA 11.6562744 489 3 124438188 124438188 C T exonic KALRN NA synonymous SNV KALRN:NM_007064:exon27:c.C3741T:p.S1247S,KALRN:NM_001024660:exon60:c.C8832T:p.S2944S exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000428018:exon26:c.C3645T:p.S1215S,ENSG00000160145:ENST00000291478:exon27:c.C3741T:p.S1247S,ENSG00000160145:ENST00000360013:exon60:c.C8832T:p.S2944S Score=573;Name=lod=285 NA 3q21.2 NA NA NA NA rs56410073 0.0005 0.0005 NA 0.00159744 0.005 0.001 0.0029 NA NA 0.0013 NA NA NA 0.0028 0.0044 . . . . . . . . 1.000 D . . . . -0.772 T 0.223 T . 0.525 6.844 4.42 1.445 1.953 9.625 0.524926 NA NA 0.004419 0.001816 NA NA NA 11.6544476 489 10 4889403 4889403 C T exonic AKR1E2 NA stopgain AKR1E2:NM_001271025:exon6:c.C607T:p.R203X,AKR1E2:NM_001271021:exon7:c.C730T:p.R244X,AKR1E2:NM_001040177:exon9:c.C901T:p.R301X exonic ENSG00000165568 NA stopgain ENSG00000165568:ENST00000345253:exon6:c.C607T:p.R203X,ENSG00000165568:ENST00000334019:exon7:c.C730T:p.R244X,ENSG00000165568:ENST00000532248:exon7:c.C730T:p.R244X,ENSG00000165568:ENST00000298375:exon9:c.C901T:p.R301X,ENSG00000165568:ENST00000463345:exon9:c.C901T:p.R301X,ENSG00000165568:ENST00000474119:exon9:c.C589T:p.R197X NA NA 10p15.1 NA NA NA NA rs12240276 0.08 0.08 0.069 0.0784744 0.1342 NA 0.0879 0.1006 0.0654 0.12 NA 0.09 0.09 0.0968 0.12 1 T . . . . 0.000 D 0.000 P . . . . . . . . . 1.503 10.97 4.47 2.490 3.131 15.052 1.502954 1.502954 1 0.115116 0.098956 NA 0.174 NA 11.653884 489 2 130911901 130911901 C T exonic SMPD4 NA synonymous SNV SMPD4:NM_001171083:exon13:c.G1419A:p.E473E,SMPD4:NM_017751:exon15:c.G1638A:p.E546E,SMPD4:NM_017951:exon16:c.G1725A:p.E575E exonic ENSG00000136699 NA synonymous SNV ENSG00000136699:ENST00000457039:exon5:c.G516A:p.E172E,ENSG00000136699:ENST00000426662:exon8:c.G633A:p.E211E,ENSG00000136699:ENST00000443958:exon9:c.G717A:p.E239E,ENSG00000136699:ENST00000453750:exon9:c.G972A:p.E324E,ENSG00000136699:ENST00000452225:exon11:c.G948A:p.E316E,ENSG00000136699:ENST00000431183:exon13:c.G1419A:p.E473E,ENSG00000136699:ENST00000339679:exon14:c.G1299A:p.E433E,ENSG00000136699:ENST00000351288:exon15:c.G1638A:p.E546E,ENSG00000136699:ENST00000409031:exon16:c.G1725A:p.E575E Score=583;Name=lod=311 NA 2q21.1 NA NA NA NA rs11887653 0.03 0.03 0.013 0.0297524 0.004 0.001 0.0173 0.0998 NA 0.004 0.0017 0.01 0.09 0.0106 0.09 . . . . . . . . 1.000 D . . . . -1.078 T 0.015 T . 0.821 8.308 3.77 1.623 1.816 13.096 0.821464 NA NA 0.001977 0.0875 NA 0.022 NA 11.6500896 490 16 54318172 54318172 C A exonic IRX3 NA nonsynonymous SNV IRX3:NM_024336:exon3:c.G1437T:p.Q479H exonic ENSG00000177508 NA nonsynonymous SNV ENSG00000177508:ENST00000558054:exon2:c.G125T:p.S42I,ENSG00000177508:ENST00000329734:exon3:c.G1437T:p.Q479H Score=622;Name=lod=448 NA 16q12.2 Score=758;Name=V$E2F_01 NA Name=28 NA rs1126960 0.17 0.17 0.164 0.154553 0.2455 0.0169 0.1931 0.1732 0.1503 0.25 0.02 0.22 0.18 0.2021 0.25 0.08 T 0.053 B 0.016 B 0.268 N 0.768 P 1.095 L 0.58 T -1.077 T 0.000 T 0.149 2.53 14.42 4.1 1.058 0.377 7.686 2.529864 2.529864 0.2 0.243023 0.193358 NA 0.268 NA 11.6427104 490 14 21790040 21790040 G T exonic RPGRIP1 NA nonsynonymous SNV RPGRIP1:NM_020366:exon13:c.G1639T:p.A547S exonic ENSG00000092200 NA nonsynonymous SNV ENSG00000092200:ENST00000554303:exon2:c.G58T:p.A20S,ENSG00000092200:ENST00000555587:exon2:c.G64T:p.A22S,ENSG00000092200:ENST00000382933:exon4:c.G565T:p.A189S,ENSG00000092200:ENST00000206660:exon13:c.G1639T:p.A547S,ENSG00000092200:ENST00000400017:exon13:c.G1639T:p.A547S,ENSG00000092200:ENST00000556336:exon13:c.G1558T:p.A520S,ENSG00000092200:ENST00000557771:exon13:c.G1558T:p.A520S Score=284;Name=lod=19 NA 14q11.2 NA NA NA NA rs10151259 0.16 0.16 0.167 0.167332 0.2366 0.004 0.1412 0.2315 0.1963 0.24 NA 0.15 0.23 0.2105 0.25 0.29 T 1.0 D 0.999 D 0.004 N 0.000 P 1.64 L -0.1 T -1.048 T 0.000 T 0.118 2.344 13.8 3.04 0.777 0.774 5.699 2.344142 2.344142 0.34 0.245258 0.204918 NA 0.167 CLINSIG=pathogenic|untested;CLNDBN=Cone-rod_dystrophy_13|not_provided;CLNREVSTAT=mult|not;CLNACC=RCV000005275.2|RCV000086240.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK1298:C2750720:608194:ORPHA1872|. 11.6409754 490 19 5455800 5455800 G A exonic ZNRF4 NA nonsynonymous SNV ZNRF4:NM_181710:exon1:c.G298A:p.V100I exonic ENSG00000105428 NA nonsynonymous SNV ENSG00000105428:ENST00000222033:exon1:c.G298A:p.V100I NA NA 19p13.3 NA NA NA NA rs2240745 0.08 0.08 0.072 0.0788738 0.0656 0.1845 0.0259 0.0045 0.1217 0.06 0.2 0.03 0.0041 0.07 0.2 0.78 T 0.989 D 0.696 P 0.334 U 1.000 P 0.74 N 3.59 T -0.969 T 0.000 T 0.035 0.866 8.511 3.63 1.576 1.969 10.79 0.866465 NA 0.33 0.061273 0.014098 NA 0.094 NA 11.6364604 491 6 43100373 43100373 C T exonic PTK7 NA synonymous SNV PTK7:NM_001270398:exon7:c.C1200T:p.H400H,PTK7:NM_002821:exon7:c.C1176T:p.H392H,PTK7:NM_152880:exon7:c.C1176T:p.H392H,PTK7:NM_152881:exon7:c.C1176T:p.H392H,PTK7:NM_152882:exon7:c.C1176T:p.H392H exonic ENSG00000112655 NA synonymous SNV ENSG00000112655:ENST00000481946:exon3:c.C435T:p.H145H,ENSG00000112655:ENST00000230418:exon7:c.C1176T:p.H392H,ENSG00000112655:ENST00000230419:exon7:c.C1176T:p.H392H,ENSG00000112655:ENST00000345201:exon7:c.C1176T:p.H392H,ENSG00000112655:ENST00000349241:exon7:c.C1176T:p.H392H,ENSG00000112655:ENST00000352931:exon7:c.C1176T:p.H392H,ENSG00000112655:ENST00000471863:exon7:c.C1176T:p.H392H,ENSG00000112655:ENST00000481273:exon7:c.C1200T:p.H400H NA NA 6p21.1 Score=891;Name=V$E47_02 NA NA NA rs56004029 0.01 0.01 0.004 0.0129792 0.006 0.003 0.0259 0.0008 0.0378 0.01 NA 0.02 0.002 0.0205 0.022 0 D . . . . . . 1.000 D . . . . -0.070 T 0.267 T . 0.624 7.354 -10.0 -2.408 -1.211 17.759 0.623517 NA NA 0.00593 0.001362 NA 0.029 NA 11.6342366 491 20 31676804 31676804 A C exonic BPIFB4 NA nonsynonymous SNV BPIFB4:NM_182519:exon6:c.A959C:p.N320T exonic ENSG00000186191 NA nonsynonymous SNV ENSG00000186191:ENST00000375483:exon6:c.A959C:p.N320T Score=485;Name=lod=125 NA 20q11.21 NA NA NA NA rs2889732 0.55 0.55 0.546 0.551518 0.3917 0.753 0.4971 0.5703 0.5215 0.4 0.76 0.47 0.6 0.4388 0.76 0.29 T 0.979 D 0.675 P 0.003 N 0.437 P 0.345 N 3.53 T -1.248 T 0.000 T 0.182 4.102 21.1 5.01 1.887 3.261 11.107 4.101996 4.101996 0.2 0.370698 0.5202 NA 0.536 NA 11.6321354 491 3 133371471 133371471 G A exonic TOPBP1 NA nonsynonymous SNV TOPBP1:NM_007027:exon8:c.C925T:p.R309C exonic ENSG00000163781 NA nonsynonymous SNV ENSG00000163781:ENST00000260810:exon8:c.C925T:p.R309C Score=510;Name=lod=157 NA 3q22.1 NA NA NA NA rs55633281 0.05 0.05 0.044 0.0391374 0.0765 0.001 0.0591 0.0461 0.0164 0.07 0.0017 0.07 0.04 0.0533 0.076 0.06 T 0.488 P 0.074 B 0.001 N 0.011 P 1.59 L 2.64 T -1.054 T 0.002 T 0.069 2.669 14.89 3.9 1.426 3.469 12.933 2.669114 2.669114 0.01 0.07629 0.04343 ID=COSM1419178,COSM1419177;OCCURENCE=1(large_intestine) 0.08 NA 11.6272434 492 15 43023482 43023482 T C exonic CDAN1 NA nonsynonymous SNV CDAN1:NM_138477:exon12:c.A1787G:p.Q596R exonic ENSG00000140326 NA nonsynonymous SNV ENSG00000140326:ENST00000356231:exon12:c.A1787G:p.Q596R Score=598;Name=lod=358 NA 15q15.2 NA NA NA NA rs12917189 0.39 0.39 0.429 0.453674 0.2068 0.2589 0.1729 0.9531 0.4325 0.22 0.25 0.18 0.95 0.2933 0.95 0.9 T 0.0 B 0.0 B 0.002 N 1.000 P -1.06 N -2.1 D -0.944 T 0.000 T 0.086 0.36 5.952 4.05 0.421 2.077 4.659 0.359651 NA 0.47 0.209933 0.818883 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=Congenital_dyserythropoietic_anemia\x2c_type_I;CLNREVSTAT=single;CLNACC=RCV000020952.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK5313:C0271933:224120:ORPHA98869:59548005 11.6233004 492 2 242707195 242707195 C A exonic D2HGDH NA synonymous SNV D2HGDH:NM_152783:exon10:c.C1377A:p.P459P exonic ENSG00000180902 NA synonymous SNV ENSG00000180902:ENST00000403782:exon9:c.C975A:p.P325P,ENSG00000180902:ENST00000321264:exon10:c.C1377A:p.P459P Score=508;Name=lod=155 NA 2q37.3 NA NA NA NA rs143940595 0.01 0.01 0.004 0.00559105 0.0169 NA 0.0115 0.0015 0.001 0.02 NA 0.01 NA 0.0137 0.02 0.11 T . . . . 0.000 D 1.000 D . . -1.75 D -0.596 T 0.278 T . 0.319 5.731 0.168 0.004 -1.633 2.366 0.319253 NA NA 0.017113 0.003404 NA 0.007 NA 11.6189536 493 5 79027700 79027700 T C exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.T3112C:p.F1038L exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.T3112C:p.F1038L NA NA 5q14.1 NA NA NA NA rs62621915 0.16 0.16 0.163 0.131789 0.0596 0.3621 0.0389 0.093 0.0869 0.06 0.41 0.04 0.11 0.0948 0.41 0.48 T 0.988 D 0.675 P 0.082 N 1.000 P 1.845 L -0.25 T -0.956 T 0.000 T 0.197 1.398 10.61 5.88 2.252 0.990 14.532 1.39822 1.39822 0.52 0.065007 0.078892 NA 0.167 NA 11.6139264 494 6 32548632 32548632 T A exonic HLA-DRB1 NA nonsynonymous SNV HLA-DRB1:NM_002124:exon4:c.A654T:p.R218S exonic ENSG00000196126 NA nonsynonymous SNV ENSG00000196126:ENST00000360004:exon4:c.A654T:p.R218S Score=333;Name=lod=30 NA 6p21.32 NA NA NA NA rs78817721 NA NA 0.244 NA NA NA NA NA NA NA NA NA NA 0.2288 0.033 0.04 D 0.945 P 0.25 B 0.192 N 1.000 D 2.08 M 3.17 T -0.941 T 0.010 T 0.627 0.751 7.979 1.02 -0.038 -0.892 7.066 0.750737 NA 0.05 NA NA NA 0.022 NA 11.6045334 494 13 53286950 53286950 C T exonic LECT1 NA nonsynonymous SNV LECT1:NM_001011705:exon5:c.G523A:p.V175I,LECT1:NM_007015:exon5:c.G523A:p.V175I exonic ENSG00000136110 NA nonsynonymous SNV ENSG00000136110:ENST00000431550:exon4:c.G289A:p.V97I,ENSG00000136110:ENST00000377962:exon5:c.G523A:p.V175I,ENSG00000136110:ENST00000448904:exon5:c.G523A:p.V175I Score=436;Name=lod=79 NA 13q14.3 NA NA NA NA rs7330220 0.06 0.06 0.066 0.0698882 0.0726 NA 0.0562 0.1452 0.047 0.08 NA 0.05 0.12 0.0726 0.14 0.02 D 0.679 P 0.348 B 0.016 N 0.999 P 0.69 N -1.31 T -0.949 T 0.004 T 0.106 2.958 15.86 3.36 0.545 2.845 9.504 2.958266 2.958266 0.01 0.084767 0.140944 NA 0.138 NA 11.6033664 494 3 14755572 14755572 A G exonic C3orf20 NA nonsynonymous SNV C3orf20:NM_001184957:exon8:c.A853G:p.I285V,C3orf20:NM_001184958:exon8:c.A853G:p.I285V,C3orf20:NM_032137:exon8:c.A1219G:p.I407V exonic ENSG00000131379 NA nonsynonymous SNV ENSG00000131379:ENST00000253697:exon8:c.A1219G:p.I407V,ENSG00000131379:ENST00000412910:exon8:c.A853G:p.I285V,ENSG00000131379:ENST00000435614:exon8:c.A853G:p.I285V Score=304;Name=lod=23 NA 3p25.1 Score=945;Name=V$GATA1_01 NA NA NA rs6765537 0.41 0.41 0.398 0.378195 0.4155 0.3244 0.4524 0.4244 0.2802 0.42 0.33 0.43 0.47 0.3915 0.47 0.36 T 0.506 P 0.225 B 0.002 N 0.961 P 2.08 M 2.74 T -0.917 T 0.000 T 0.063 3.123 16.44 4.41 0.942 2.190 8.233 3.123451 3.123451 0.43 0.42314 0.431003 NA 0.449 NA 11.6031934 495 11 48266736 48266736 C G exonic OR4X2 NA stopgain OR4X2:NM_001004727:exon1:c.C81G:p.Y27X exonic ENSG00000172208 NA stopgain ENSG00000172208:ENST00000302329:exon1:c.C81G:p.Y27X Score=346;Name=lod=34 NA 11p11.2 NA NA NA NA rs7120775 0.17 0.17 0.157 0.17472 0.1252 0.1627 0.1268 0.2882 0.1186 0.13 0.16 0.13 0.26 0.1476 0.27 1 T . . . . 0.000 D 0.000 P . . . . . . . . . 3.645 18.54 2.46 1.255 -0.233 6.823 3.645426 3.645426 0 0.132271 0.268741 ID=COSM147190;OCCURENCE=1(stomach) 0.174 NA 11.594929 495 2 219509618 219509618 C A exonic ZNF142 NA nonsynonymous SNV ZNF142:NM_001105537:exon8:c.G1621T:p.A541S exonic ENSG00000115568 NA nonsynonymous SNV ENSG00000115568:ENST00000411696:exon7:c.G1621T:p.A541S,ENSG00000115568:ENST00000449707:exon8:c.G1621T:p.A541S NA NA 2q35 Score=916;Name=V$E47_01 Name=CTCF Name=5 NA rs2230115 0.53 0.53 0.479 0.516374 0.5934 0.8194 0.5879 0.0711 0.6759 0.6 0.79 0.6 0.07 0.5741 0.79 0.55 T 0.732 P 0.505 P 0.036 N 1.000 P 1.7 L 2.78 T -1.162 T 0.000 T 0.074 0.772 8.081 5.08 1.528 0.775 10.901 0.772438 NA 0.15 0.577488 0.166819 NA 0.37 NA 11.5883454 496 9 79324741 79324741 T C exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.A2449G:p.N817D exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.A2449G:p.N817D,ENSG00000106772:ENST00000428286:exon8:c.A1372G:p.N458D Score=391;Name=lod=52 NA 9q21.2 Score=766;Name=V$STAT5A_02 NA NA NA rs557352 0.48 0.48 0.43 0.461861 0.5885 0.3601 0.6412 0.2995 0.5286 0.58 0.37 0.64 0.33 0.562 0.64 0.24 T 0.379 B 0.093 B 0.000 D 0.000 P 1.04 L 1.89 T -0.987 T 0.000 T 0.116 0.686 7.668 5.65 2.152 1.282 10.486 0.686425 NA 0.25 0.60483 0.368622 NA 0.522 NA 11.5780034 496 1 11906068 11906068 A G exonic NPPA NA stoploss NPPA:NM_006172:exon3:c.T454C:p.X152R exonic ENSG00000175206 NA stoploss ENSG00000175206:ENST00000376476:exon3:c.T304C:p.X102R,ENSG00000175206:ENST00000376480:exon3:c.T454C:p.X152R Score=378;Name=lod=46 NA 1p36.22 Score=767;Name=V$MEF2_04 Name=CTCF,NRSF Name=68 NA rs5065 0.14 0.14 0.143 0.179113 0.1233 0.0129 0.1138 0.4183 0.1309 0.11 0.01 0.11 0.35 0.1437 0.41 . . . . . . . . 1.000 P . . . . . . . . . 0.315 5.706 0.954 0.041 0.306 2.125 0.314728 NA 0.62 0.155233 0.408534 NA 0.188 NA 11.577767 496 10 15649698 15649698 T G exonic ITGA8 NA nonsynonymous SNV ITGA8:NM_003638:exon17:c.A1742C:p.Q581P exonic ENSG00000077943 NA nonsynonymous SNV ENSG00000077943:ENST00000378076:exon17:c.A1742C:p.Q581P Score=355;Name=lod=37 NA 10p13 Score=793;Name=V$GFI1_01 NA NA NA rs9333269 0.05 0.05 0.037 0.0325479 0.0974 NA 0.0591 0.0053 0.0174 0.1 NA 0.08 0.01 0.0689 0.1 0.27 T 0.545 P 0.362 B 0.122 N 0.990 N 1.78 L 0.78 T -1.085 T 0.004 T 0.352 0.958 8.908 -2.03 -1.017 0.007 7.953 0.958115 NA 0.04 0.090349 0.01566 ID=COSM146891;OCCURENCE=1(stomach) 0.065 NA 11.5766844 497 11 20648380 20648380 G A exonic SLC6A5 NA nonsynonymous SNV SLC6A5:NM_004211:exon8:c.G1387A:p.D463N exonic ENSG00000165970 NA nonsynonymous SNV ENSG00000165970:ENST00000525748:exon8:c.G1387A:p.D463N Score=464;Name=lod=103 NA 11p15.1 NA NA NA NA rs1805091 0.18 0.18 0.17 0.16274 0.2505 0.0883 0.1787 0.1165 0.2004 0.25 0.09 0.21 0.17 0.2258 0.29 0.18 T 0.094 B 0.145 B 0.000 D 0.000 P 1.05 L -0.85 T -1.128 T 0.000 T 0.114 4.096 21.1 6.04 2.873 9.869 20.174 4.096148 4.096148 0.21 0.287209 0.125057 ID=COSM1353177;OCCURENCE=1(large_intestine) 0.188 NA 11.5698244 497 5 68616331 68616331 C T exonic CCDC125 NA nonsynonymous SNV CCDC125:NM_176816:exon1:c.G37A:p.V13M exonic ENSG00000183323 NA nonsynonymous SNV ENSG00000183323:ENST00000396499:exon1:c.G37A:p.V13M,ENSG00000183323:ENST00000383374:exon2:c.G37A:p.V13M,ENSG00000183323:ENST00000396496:exon2:c.G37A:p.V13M NA NA 5q13.2 NA NA Name=2 NA rs10471774 0.31 0.31 0.274 0.260583 0.4543 0.2837 0.2968 0.062 0.2802 0.47 0.27 0.37 0.06 0.3684 0.47 0.11 T 0.994 D 0.649 P 0.631 N 0.987 P 1.39 L 0.91 T -0.914 T 0.000 T 0.045 2.993 15.98 4.02 1.170 2.597 11.374 2.992915 2.992915 0.04 0.44314 0.131185 NA 0.239 NA 11.5674934 498 3 169514585 169514585 A T exonic LRRC34 NA nonsynonymous SNV LRRC34:NM_153353:exon7:c.T760A:p.L254I,LRRC34:NM_001172779:exon8:c.T856A:p.L286I,LRRC34:NM_001172780:exon8:c.T856A:p.L286I exonic ENSG00000171757 NA nonsynonymous SNV ENSG00000171757:ENST00000528597:exon1:c.T103A:p.L35I,ENSG00000171757:ENST00000316515:exon7:c.T721A:p.L241I,ENSG00000171757:ENST00000522526:exon7:c.T760A:p.L254I,ENSG00000171757:ENST00000446859:exon8:c.T856A:p.L286I,ENSG00000171757:ENST00000522830:exon8:c.T673A:p.L225I NA NA 3q26.2 Score=902;Name=V$HLF_01 NA NA NA rs10936600 0.31 0.31 0.268 0.272963 0.2425 0.5784 0.353 0.0598 0.2209 0.25 0.59 0.29 0.09 0.2834 0.59 0.44 T 1.0 D 0.994 D 0.000 D 0.939 P 1.585 L 0.29 T -0.919 T 0.000 T 0.586 1.828 12.07 -0.438 -0.269 1.045 12.056 1.827537 1.827537 0.07 0.247558 0.095778 NA 0.167 NA 11.5598754 498 2 112614429 112614429 G A exonic ANAPC1 NA stopgain ANAPC1:NM_022662:exon12:c.C1393T:p.Q465X exonic ENSG00000153107 NA stopgain ENSG00000153107:ENST00000341068:exon12:c.C1393T:p.Q465X Score=535;Name=lod=199 NA 2q13 NA NA NA NA rs72936240 NA NA 0.293 NA NA NA NA NA NA NA NA NA NA 0.4426 NA . . . . . . 0.001 U 0.000 P . . . . . . . . . 12.789 46 4.09 1.972 6.767 16.629 12.789264 12.789264 0.04 NA NA NA NA NA 11.5574 498 12 32860302 32860302 G A exonic DNM1L NA synonymous SNV DNM1L:NM_005690:exon3:c.G252A:p.G84G,DNM1L:NM_012062:exon3:c.G252A:p.G84G,DNM1L:NM_012063:exon3:c.G252A:p.G84G exonic ENSG00000087470 NA nonsynonymous SNV ENSG00000087470:ENST00000414834:exon4:c.G86A:p.G29E Score=395;Name=lod=54 NA 12p11.21 Score=781;Name=V$TAXCREB_01 NA NA NA rs2272238 0.14 0.14 0.131 0.14397 0.164 0.0833 0.1037 0.2103 0.1247 0.16 0.07 0.1 0.22 0.1328 0.22 0 D 0.0 B 0.0 B 0.111 U 0.000 P . . -3.71 D -0.881 T 0.001 T . 2.895 15.65 -3.54 -0.090 -0.519 2.061 2.895173 2.895173 0 0.145906 0.195504 NA 0.094 NA 11.557294 498 13 31891746 31891746 G A exonic B3GALTL NA nonsynonymous SNV B3GALTL:NM_194318:exon13:c.G1108A:p.E370K exonic ENSG00000187676 NA nonsynonymous SNV ENSG00000187676:ENST00000343307:exon13:c.G1108A:p.E370K Score=284;Name=lod=19 NA 13q12.3 NA NA NA NA rs1041073 0.69 0.69 0.659 0.666733 0.7575 0.7798 0.7579 0.3873 0.7699 0.76 0.77 0.79 0.39 0.7425 0.79 0.28 T 0.964 D 0.472 P 0.000 N 0.001 P 0.82 L -1.92 D -0.913 T 0.000 T 0.174 3.616 18.4 3.21 0.602 5.974 7.087 3.616191 3.616191 0.04 0.778023 0.416024 NA 0.507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082784.1;CLNDSDB=.;CLNDSDBID=. 11.5553104 499 1 879317 879317 C T exonic SAMD11 NA synonymous SNV SAMD11:NM_152486:exon14:c.C1830T:p.Y610Y exonic ENSG00000187634 NA synonymous SNV ENSG00000187634:ENST00000342066:exon14:c.C1830T:p.Y610Y Score=483;Name=lod=123 NA 1p36.33 NA Name=Pol2(phosphoS2) NA NA rs7523549 0.09 0.09 0.077 0.091254 0.0398 0.0665 0.0778 0.2156 0.0112 0.04 0.07 0.07 0.21 0.048 0.21 . . . . . . . . 0.000 P . . . . -1.180 T 0.000 T . -0.42 2.042 5.43 2.567 3.429 15.438 -0.419809 NA NA 0.027027 0.190282 ID=COSM1344678;OCCURENCE=2(large_intestine) 0.072 NA 11.5518396 499 9 2718717 2718717 C T exonic KCNV2 NA synonymous SNV KCNV2:NM_133497:exon1:c.C978T:p.D326D exonic ENSG00000168263 NA synonymous SNV ENSG00000168263:ENST00000382082:exon1:c.C978T:p.D326D Score=622;Name=lod=450 NA 9p24.2 Score=735;Name=V$MYOGNF1_01 NA Name=4 NA rs7860945 0.03 0.03 0.034 0.0333466 0.0417 NA 0.0331 0.0681 0.0123 0.04 NA 0.04 0.06 0.0351 0.065 0.15 T . . . . . . 1.000 D . . . . -1.070 T 0.027 T . 0.348 5.887 3.39 0.600 0.343 9.714 0.347725 NA 0.01 0.04445 0.065138 NA 0.022 NA 11.5454166 500 11 1651555 1651555 C A exonic KRTAP5-5 NA nonsynonymous SNV KRTAP5-5:NM_001001480:exon1:c.C485A:p.P162H exonic ENSG00000185940 NA nonsynonymous SNV ENSG00000185940:ENST00000399676:exon1:c.C485A:p.P162H NA NA 11p15.5 NA NA NA NA rs147101544 0.07 0.07 0.034 0.0748802 0.1054 0.003 0.0908 0.1399 0.0184 0.09 NA 0.08 0.09 0.0849 0.13 0 D 0.976 D 0.451 P . . 1.000 P 2.74 M 5.1 T -0.986 T 0.000 T 0.094 -0.408 2.092 2.89 0.577 0.883 6.636 -0.408148 NA 0.01 0.099162 0.133515 NA 0.014 NA 11.5438714 500 9 140277826 140277826 C T exonic EXD3 NA nonsynonymous SNV EXD3:NM_017820:exon3:c.G59A:p.R20Q exonic ENSG00000187609 NA nonsynonymous SNV ENSG00000187609:ENST00000340951:exon3:c.G59A:p.R20Q,ENSG00000187609:ENST00000460390:exon3:c.G59A:p.R20Q,ENSG00000187609:ENST00000479452:exon3:c.G59A:p.R20Q Score=300;Name=lod=22 NA 9q34.3 NA Name=Pol2(b),TAL1_(SC-12984),GATA-2,ZBTB7A_(SC-34508),CCNT2,GATA2_(CG2-96),GABP,HMGN3 Name=6 NA rs13291830 0.55 0.55 NA 0.545327 0.6203 0.3849 0.4539 0.7776 0.3845 0.6 0.36 0.46 0.76 0.5744 0.77 0.57 T 0.003 B 0.001 B 0.004 N 0.000 P -1.845 N 1.58 T -1.004 T 0.000 T 0.022 1.996 12.63 -2.21 -1.248 -1.620 7.97 1.995825 1.995825 0.62 0.5979 0.772824 NA 0.652 NA 11.5407334 501 7 139026152 139026152 T G exonic C7orf55,C7orf55-LUC7L2 NA nonsynonymous SNV C7orf55-LUC7L2:NM_001244584:exon1:c.T22G:p.S8A,C7orf55:NM_197964:exon1:c.T22G:p.S8A exonic ENSG00000164898,ENSG00000269955 NA nonsynonymous SNV ENSG00000164898:ENST00000297534:exon1:c.T22G:p.S8A,ENSG00000269955:ENST00000541515:exon1:c.T22G:p.S8A Score=385;Name=lod=49 NA 7q34 NA Name=BRCA1_(C-1863),YY1_(C-20),Pol2,SP1,Pol2(phosphoS2),HMGN3,TAF1,p300_(F-4),GTF2F1_(RAP-74),CHD2_(N-1250),CTCF,eGFP-HDAC8,Max,HA-E2F1,ZNF263,Pol2-4H8,CTCF_(SC-5916),YY1,FOXA1_(C-20),Pol2(b),IRF1,GTF2B,PAX5-C20,SIX5,c-Myc,AP-2gamma,NFKB,HEY1 Name=148 NA rs10265 0.4 0.4 0.434 0.417133 0.2763 0.2024 0.2709 0.879 0.2628 0.27 0.22 0.3 0.87 0.2805 0.87 0.63 T 0.0 B 0.0 B 0.588 N 1.000 P -0.205 N 1.63 T -0.999 T 0.000 T 0.036 1.223 9.961 2.58 0.103 1.201 9.300 1.222766 NA 0.78 0.245581 0.781661 ID=COSM1600101;OCCURENCE=1(central_nervous_system) 0.471 NA 11.5309524 501 22 41790179 41790179 G A exonic TEF NA synonymous SNV TEF:NM_001145398:exon3:c.G465A:p.P155P,TEF:NM_003216:exon3:c.G555A:p.P185P exonic ENSG00000167074 NA synonymous SNV ENSG00000167074:ENST00000266304:exon3:c.G555A:p.P185P,ENSG00000167074:ENST00000406644:exon3:c.G465A:p.P155P NA NA 22q13.2 Score=824;Name=V$HNF4_01 NA NA NA rs17365991 0.03 0.03 0.019 0.0179712 0.0507 0.003 0.0288 0.003 0.0123 0.06 0.01 0.03 0.0041 0.0366 0.06 . . . . . . . . 1.000 D . . . . -0.993 T 0.013 T . 1.024 9.184 -6.36 -1.214 -2.554 1.456 1.02433 NA NA 0.051977 0.009986 NA 0.029 NA 11.5273896 502 17 8243598 8243598 C T exonic ODF4 NA nonsynonymous SNV ODF4:NM_153007:exon1:c.C229T:p.R77C exonic ENSG00000184650 NA nonsynonymous SNV ENSG00000184650:ENST00000328248:exon1:c.C229T:p.R77C NA NA 17p13.1 Score=772;Name=V$YY1_02 NA NA NA rs73250854 0.1 0.1 0.106 0.0982428 0.1024 0.0139 0.098 0.1694 0.0849 0.1 0.02 0.1 0.17 0.1018 0.17 0 D 0.997 D 0.833 P 0.573 N 1.000 P 1.32 L 0.99 T -1.082 T 0.001 T 0.158 1.916 12.36 2.84 0.615 0.702 5.650 1.916018 1.916018 NA 0.111744 0.142306 NA 0.159 NA 11.5173894 503 4 187209729 187209729 G A exonic F11 NA synonymous SNV F11:NM_000128:exon15:c.G1839A:p.E613E exonic ENSG00000088926 NA synonymous SNV ENSG00000088926:ENST00000264692:exon15:c.G1683A:p.E561E,ENSG00000088926:ENST00000403665:exon15:c.G1839A:p.E613E Score=259;Name=lod=15 NA 4q35.2 Score=833;Name=V$HMX1_01 NA NA NA rs5976 0.06 0.06 0.061 0.0583067 0.0537 0.0843 0.0605 0.0303 0.0726 0.06 0.09 0.05 0.04 0.0546 0.098 . . . . . . . . 1.000 D . . . . -1.094 T 0.011 T . 2.784 15.27 4.65 1.463 0.191 6.403 2.784293 2.784293 NA 0.046163 0.047435 ID=COSM149776;OCCURENCE=1(stomach) 0.065 NA 11.5122036 503 7 44800176 44800176 G T exonic ZMIZ2 NA nonsynonymous SNV ZMIZ2:NM_174929:exon7:c.G1146T:p.L382F,ZMIZ2:NM_031449:exon9:c.G1224T:p.L408F exonic ENSG00000122515 NA nonsynonymous SNV ENSG00000122515:ENST00000265346:exon7:c.G1146T:p.L382F,ENSG00000122515:ENST00000413916:exon8:c.G1050T:p.L350F,ENSG00000122515:ENST00000433667:exon8:c.G1128T:p.L376F,ENSG00000122515:ENST00000441627:exon8:c.G1224T:p.L408F,ENSG00000122515:ENST00000309315:exon9:c.G1224T:p.L408F Score=462;Name=lod=101 NA 7p13 NA NA NA NA rs3735478 0.18 0.18 0.152 0.15016 0.3042 0.1429 0.1873 0.0136 0.1575 0.32 0.13 0.18 0.0041 0.2418 0.32 0.35 T 1.0 D 0.991 D 0.000 D 0.001 P 1.61 L 0.68 T -1.031 T 0.000 T 0.209 3.227 16.81 2.59 0.705 0.844 8.409 3.226875 3.226875 0.03 0.27583 0.05495 NA 0.152 NA 11.5115034 503 4 74451073 74451073 A G exonic RASSF6 NA nonsynonymous SNV RASSF6:NM_001270392:exon5:c.T355C:p.S119P,RASSF6:NM_001270391:exon6:c.T391C:p.S131P,RASSF6:NM_177532:exon6:c.T391C:p.S131P,RASSF6:NM_201431:exon6:c.T487C:p.S163P exonic ENSG00000169435 NA nonsynonymous SNV ENSG00000169435:ENST00000335049:exon5:c.T355C:p.S119P,ENSG00000169435:ENST00000307439:exon6:c.T391C:p.S131P,ENSG00000169435:ENST00000342081:exon6:c.T487C:p.S163P,ENSG00000169435:ENST00000395777:exon6:c.T391C:p.S131P Score=441;Name=lod=83 NA 4q13.3 Score=876;Name=V$GATA1_04 NA NA NA rs12507775 0.25 0.25 0.231 0.263379 0.2833 0.1141 0.4712 0.2761 0.2321 0.28 0.11 0.41 0.25 0.2641 0.41 0.22 T 0.034 B 0.038 B 0.022 N 0.415 P 0.95 L 1.14 T -0.937 T 0.000 T 0.114 0.981 9.003 4.74 2.254 1.490 4.841 0.98056 NA 0.27 0.276111 0.296641 NA 0.348 NA 11.5098224 503 13 47354101 47354101 C T exonic ESD NA nonsynonymous SNV ESD:NM_001984:exon8:c.G569A:p.G190E exonic ENSG00000139684 NA nonsynonymous SNV ENSG00000139684:ENST00000378720:exon8:c.G569A:p.G190E,ENSG00000139684:ENST00000378697:exon9:c.G482A:p.G161E Score=533;Name=lod=195 NA 13q14.2 NA NA NA NA rs9778 0.17 0.17 0.167 0.192093 0.0775 0.4206 0.1383 0.0855 0.2566 0.06 0.4 0.15 0.1 0.1398 0.4 0.11 T 0.685 P 0.301 B 0.000 N 0.000 P 2.595 M 1.49 T -0.961 T 0.000 T 0.397 4.072 20.9 4.42 0.912 4.842 10.904 4.07188 4.07188 0.02 0.106279 0.079437 NA 0.254 NA 11.5097544 504 5 121488506 121488506 C G exonic ZNF474 NA nonsynonymous SNV ZNF474:NM_207317:exon2:c.C821G:p.S274C exonic ENSG00000164185 NA nonsynonymous SNV ENSG00000164185:ENST00000296600:exon2:c.C821G:p.S274C NA NA 5q23.2 NA Name=ERalpha_a,GR Name=22 NA rs35262183 0.27 0.27 0.23 0.249401 0.2724 0.3909 0.2406 0.09 0.3016 0.27 0.41 0.3 0.09 0.2858 0.41 0.11 T 0.985 D 0.408 B 0.537 U 1.000 P 1.95 M 0.78 T -0.957 T 0.000 T 0.06 0.247 5.333 2.52 0.216 0.799 7.621 0.24683 NA 0.05 0.28186 0.116205 NA 0.159 NA 11.4932734 504 6 52701143 52701143 C T exonic GSTA5 NA nonsynonymous SNV GSTA5:NM_153699:exon4:c.G163A:p.V55I exonic ENSG00000182793 NA nonsynonymous SNV ENSG00000182793:ENST00000284562:exon4:c.G163A:p.V55I,ENSG00000182793:ENST00000370989:exon4:c.G163A:p.V55I Score=614;Name=lod=417 NA 6p12.2 NA NA NA NA rs2397118 0.91 0.91 0.909 0.888578 0.9473 0.8681 0.9654 0.854 0.8415 0.94 0.87 0.97 0.87 0.9306 0.97 0.04 D 0.32 B 0.295 B 0.000 D 0.039 P 2.485 M 2.94 T -1.125 T 0.024 T 0.045 2.89 15.63 2.63 1.456 4.168 10.674 2.890114 2.890114 0.02 0.96407 0.866546 NA 0.913 NA 11.4913634 504 6 31324036 31324036 T A exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon3:c.A527T:p.E176V exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000434333:exon2:c.A560T:p.E187V,ENSG00000234745:ENST00000412585:exon3:c.A527T:p.E176V NA NA 6p21.33 NA Name=Pol2-4H8 Name=6 NA rs151341293 0.41 0.41 0.344 0.425519 0.4294 0.3839 0.4553 0.4304 0.4366 0.4 0.41 0.44 0.41 0.4164 0.44 1 T 0.001 B 0.01 B 0.000 U 1.000 P -0.175 N 9.57 T -0.860 T 0.000 T 0.542 -1.683 0.012 -6.36 -6.376 -7.607 1.663 -1.683326 NA 1 NA NA NA 0.333 NA 11.4875334 504 3 16254172 16254172 G A exonic GALNT15 NA nonsynonymous SNV GALNT15:NM_054110:exon6:c.G1294A:p.A432T exonic ENSG00000131386 NA nonsynonymous SNV ENSG00000131386:ENST00000339732:exon6:c.G1294A:p.A432T,ENSG00000131386:ENST00000437509:exon6:c.G1294A:p.A432T Score=300;Name=lod=22 NA 3p25.1 NA NA NA NA rs17851238 0.15 0.15 0.139 0.153355 0.1133 0.002 0.1599 0.3396 0.0941 0.12 0.0017 0.15 0.35 0.117 0.35 0.21 T 0.651 P 0.154 B 0.935 N 0.730 P 0.745 N 0.28 T -1.021 T 0.000 T 0.29 1.839 12.11 4.47 2.524 2.581 15.503 1.838866 1.838866 0.35 0.117558 0.288697 ID=COSM1420344;OCCURENCE=1(large_intestine) 0.21 NA 11.4854754 505 15 40564576 40564576 C T exonic PAK6 NA nonsynonymous SNV PAK6:NM_001276717:exon4:c.C1010T:p.P337L,PAK6:NM_001128629:exon5:c.C1010T:p.P337L,PAK6:NM_001128628:exon6:c.C1010T:p.P337L,PAK6:NM_001276718:exon6:c.C1010T:p.P337L,PAK6:NM_020168:exon6:c.C1010T:p.P337L exonic ENSG00000137843 NA nonsynonymous SNV ENSG00000137843:ENST00000542403:exon4:c.C1010T:p.P337L,ENSG00000137843:ENST00000453867:exon5:c.C1010T:p.P337L,ENSG00000137843:ENST00000260404:exon6:c.C1010T:p.P337L,ENSG00000137843:ENST00000441369:exon6:c.C1010T:p.P337L,ENSG00000137843:ENST00000455577:exon6:c.C1010T:p.P337L,ENSG00000137843:ENST00000560346:exon6:c.C1010T:p.P337L Score=251;Name=lod=14 NA 15q15.1 NA NA NA NA rs3743137 0.11 0.11 0.086 0.0940495 0.1252 0.119 0.0663 0.0348 0.136 0.14 0.12 0.09 0.07 0.1138 0.14 0.35 T 0.695 P 0.155 B 0.016 N 0.000 P 0.805 L -0.92 T -1.027 T 0.003 T 0.395 1.408 10.65 3.04 0.996 2.667 13.280 1.408476 1.408476 0.09 0.111628 0.046754 NA 0.094 NA 11.4827054 505 9 96080699 96080699 C T exonic C9orf129 NA nonsynonymous SNV C9orf129:NM_001098808:exon5:c.G572A:p.R191H exonic ENSG00000204352 NA nonsynonymous SNV ENSG00000204352:ENST00000375419:exon5:c.G572A:p.R191H NA NA 9q22.31 NA NA NA NA rs36081907 0.11 0.11 0.113 0.0986422 0.1402 0.001 0.0937 0.1762 0.0552 0.14 0.0017 0.11 0.18 0.1019 0.18 0 D 0.931 P 0.099 B . . 1.000 P 0 N 0.62 T -1.051 T 0.000 T 0.032 2.091 12.95 -3.08 -0.978 -1.366 3.485 2.091402 2.091402 0 0.110407 0.151804 NA 0.101 NA 11.4808264 505 8 67592152 67592152 T C exonic C8orf44 NA nonsynonymous SNV C8orf44:NM_019607:exon3:c.T443C:p.F148S exonic ENSG00000213865 NA nonsynonymous SNV ENSG00000213865:ENST00000519561:exon3:c.T443C:p.F148S,ENSG00000213865:ENST00000390159:exon4:c.T443C:p.F148S NA NA 8q13.1 NA Name=CEBPB,eGFP-FOS,MafK_(ab50322),c-Fos,c-Jun,JunD,eGFP-JunB Name=111 NA rs1057463 0.21 0.21 0.189 0.21845 0.2922 0.2401 0.2291 0.0514 0.3384 0.3 0.23 0.23 0.05 0.2655 0.3 0.48 T 0.713 P 0.522 P . . 1.000 P 0 N 1.12 T -0.998 T 0.000 T 0.27 2.602 14.66 2.84 0.893 1.327 6.239 2.60237 2.60237 0.43 0.294884 0.091466 NA 0.297 NA 11.4807494 505 5 148206473 148206473 G C exonic ADRB2 NA nonsynonymous SNV ADRB2:NM_000024:exon1:c.G79C:p.E27Q exonic ENSG00000169252 NA nonsynonymous SNV ENSG00000169252:ENST00000305988:exon1:c.G79C:p.E27Q NA NA 5q32 Score=791;Name=V$PAX2_01 NA Name=10 NA rs1042714 0.76 0.76 0.749 0.795727 0.5905 0.9266 0.7579 0.8638 0.8067 0.59 0.93 0.73 0.84 0.6834 0.93 0.45 T 0.009 B 0.009 B 0.133 N 1.000 P 0.345 N 1.19 T -1.012 T 0.000 T 0.194 -0.276 2.677 4.04 1.387 1.400 11.190 -0.276314 NA 0.47 0.579884 0.816387 NA 0.565 CLINSIG=other|other|other;CLNDBN=Asthma\x2c_childhood\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to|Obesity;CLNREVSTAT=single|single|single;CLNACC=RCV000019318.1|RCV000019319.1|RCV000033191.1;CLNDSDB=.|.|MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=.|.|C0028754:601665:ORPHA71529:414916001 11.4795494 506 6 2955802 2955802 T C exonic SERPINB6 NA nonsynonymous SNV SERPINB6:NM_001271822:exon3:c.A310G:p.M104V,SERPINB6:NM_001271823:exon3:c.A325G:p.M109V,SERPINB6:NM_001271824:exon3:c.A268G:p.M90V,SERPINB6:NM_001271825:exon3:c.A268G:p.M90V,SERPINB6:NM_004568:exon3:c.A268G:p.M90V,SERPINB6:NM_001195291:exon4:c.A280G:p.M94V exonic ENSG00000124570 NA nonsynonymous SNV ENSG00000124570:ENST00000380520:exon2:c.A268G:p.M90V,ENSG00000124570:ENST00000335686:exon3:c.A268G:p.M90V,ENSG00000124570:ENST00000380524:exon3:c.A268G:p.M90V,ENSG00000124570:ENST00000380529:exon3:c.A268G:p.M90V,ENSG00000124570:ENST00000380539:exon3:c.A268G:p.M90V,ENSG00000124570:ENST00000380546:exon3:c.A268G:p.M90V NA NA 6p25.2 NA NA NA NA rs2295769 0.24 0.24 0.224 0.212859 0.2992 0.2728 0.2464 0.0295 0.2863 0.32 0.31 0.24 0.03 0.2645 0.32 1 T 0.0 B 0.004 B 0.040 N 1.000 P -0.165 N -1.79 D -1.064 T 0.103 T 0.263 -0.603 1.306 3.8 0.984 2.224 9.206 -0.6034 NA 0.39 0.299302 0.066046 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037108.1;CLNDSDB=.;CLNDSDBID=. 11.4703314 506 6 46672943 46672943 A G exonic PLA2G7 NA nonsynonymous SNV PLA2G7:NM_001168357:exon11:c.T1136C:p.V379A,PLA2G7:NM_005084:exon11:c.T1136C:p.V379A exonic ENSG00000146070 NA nonsynonymous SNV ENSG00000146070:ENST00000274793:exon11:c.T1136C:p.V379A,ENSG00000146070:ENST00000537365:exon11:c.T1136C:p.V379A NA NA 6p12.3 NA NA NA NA rs1051931 0.79 0.79 0.773 0.810304 0.7565 0.9087 0.8458 0.7239 0.8558 0.76 0.9 0.85 0.68 0.8033 0.9 0.73 T 0.99 D 0.814 P 0.029 N 0.000 P 2.015 M 0.63 T -0.909 T 0.123 T 0.662 2.924 15.75 5.87 2.247 6.861 11.874 2.924347 2.924347 0.2 0.803953 0.747617 NA 0.804 CLINSIG=other|untested;CLNDBN=Asthma_and_atopy\x2c_susceptibility_to|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000008378.1|RCV000049574.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.4695804 506 3 172835290 172835290 C T exonic SPATA16 NA nonsynonymous SNV SPATA16:NM_031955:exon2:c.G232A:p.E78K exonic ENSG00000144962 NA nonsynonymous SNV ENSG00000144962:ENST00000351008:exon2:c.G232A:p.E78K Score=448;Name=lod=88 NA 3q26.31 NA NA NA NA rs1515441 0.17 0.17 0.149 0.170727 0.0994 0.3095 0.183 0.0968 0.1922 0.09 0.35 0.16 0.09 0.1434 0.35 0.07 T 0.634 P 0.167 B 0.043 N 0.994 P 0.695 N 2.2 T -0.910 T 0.000 T 0.107 2.705 15.01 4.4 1.227 1.559 14.126 2.705345 2.705345 0.08 0.122558 0.103041 NA 0.152 NA 11.4679754 506 16 84228770 84228770 G C exonic ADAD2 NA nonsynonymous SNV ADAD2:NM_001145400:exon4:c.G703C:p.G235R,ADAD2:NM_139174:exon5:c.G919C:p.G307R exonic ENSG00000140955 NA nonsynonymous SNV ENSG00000140955:ENST00000315906:exon4:c.G703C:p.G235R,ENSG00000140955:ENST00000268624:exon5:c.G919C:p.G307R Score=381;Name=lod=47 NA 16q24.1 Score=899;Name=V$NCX_01 NA NA NA rs11149631 0.3 0.3 0.285 0.276158 0.3101 0.1964 0.2363 0.4463 0.1217 0.31 0.18 0.26 0.47 0.2603 0.47 0.21 T 0.424 B 0.256 B 0.012 N 0.687 P 1.095 L 2.3 T -0.893 T 0.000 T 0.24 1.544 11.12 2.82 2.419 1.829 5.638 1.544385 1.544385 0.12 0.295835 0.421364 NA 0.362 NA 11.4670984 506 8 118184783 118184783 C T exonic SLC30A8 NA nonsynonymous SNV SLC30A8:NM_173851:exon8:c.C973T:p.R325W,SLC30A8:NM_001172814:exon9:c.C826T:p.R276W,SLC30A8:NM_001172811:exon10:c.C826T:p.R276W,SLC30A8:NM_001172813:exon11:c.C826T:p.R276W,SLC30A8:NM_001172815:exon11:c.C826T:p.R276W exonic ENSG00000164756 NA nonsynonymous SNV ENSG00000164756:ENST00000456015:exon8:c.C973T:p.R325W,ENSG00000164756:ENST00000519688:exon9:c.C826T:p.R276W,ENSG00000164756:ENST00000521243:exon10:c.C826T:p.R276W,ENSG00000164756:ENST00000427715:exon11:c.C826T:p.R276W NA Name=Type 2 diabetes,Type 2 diabetes and other traits,Glycated hemoglobin levels 8q24.11 NA Name=CTCF,GATA2_(CG2-96),CCNT2,KAP1,GATA-2,TAL1_(SC-12984) Name=23 NA rs13266634 0.28 0.28 0.26 0.255192 0.2833 0.4573 0.2666 0.0741 0.2546 0.29 0.46 0.26 0.08 0.2849 0.46 0.03 D 0.002 B 0.001 B 0.734 N 1.000 P 1.585 L -0.14 T -0.942 T 0.000 T 0.139 1.783 11.92 -1.75 -0.224 -0.403 0.873 1.783088 1.783088 0.04 0.29814 0.096686 NA 0.152 CLINSIG=other;CLNDBN=DIABETES_MELLITUS\x2c_TYPE_2\x2c_SUSCEPTIBILITY_TO;CLNREVSTAT=single;CLNACC=RCV000001055.2;CLNDSDB=.;CLNDSDBID=. 11.4669934 507 6 47649694 47649694 A G exonic GPR111 NA nonsynonymous SNV GPR111:NM_153839:exon7:c.A1195G:p.I399V exonic ENSG00000164393 NA nonsynonymous SNV ENSG00000164393:ENST00000398742:exon5:c.A1195G:p.I399V,ENSG00000164393:ENST00000296862:exon6:c.A1399G:p.I467V,ENSG00000164393:ENST00000507065:exon6:c.A1195G:p.I399V,ENSG00000164393:ENST00000467205:exon7:c.A1195G:p.I399V Score=451;Name=lod=91 NA 6p12.3 NA NA NA NA rs9381594 0.48 0.48 0.475 0.520966 0.6272 0.3085 0.4352 0.4758 0.7526 0.62 0.3 0.49 0.49 0.5954 0.65 0.66 T 0.937 P 0.605 P 0.000 D 0.217 P 1.86 L 0.69 T -0.999 T 0.095 T 0.293 2.65 14.82 5.39 2.040 6.083 14.577 2.649573 2.649573 0.2 0.647433 0.48443 NA 0.435 NA 11.4633004 507 4 79385632 79385632 C T exonic FRAS1 NA synonymous SNV FRAS1:NM_025074:exon49:c.C6924T:p.V2308V exonic ENSG00000138759 NA synonymous SNV ENSG00000138759:ENST00000264895:exon49:c.C6924T:p.V2308V Score=440;Name=lod=82 NA 4q21.21 NA NA Name=8 NA rs13123710 0.03 0.03 0.041 0.024361 0.0646 0.001 0.036 0.0061 0.0235 0.07 NA 0.04 0.01 0.0583 0.081 . . . . . . . . 1.000 D . . . . . . . . . -0.683 1.028 3.77 0.702 2.680 11.660 -0.682839 NA NA 0.080603 0.016715 NA 0.051 NA 11.4631636 507 21 47423389 47423389 G A exonic COL6A1 NA nonsynonymous SNV COL6A1:NM_001848:exon35:c.G2549A:p.R850H exonic ENSG00000142156 NA nonsynonymous SNV ENSG00000142156:ENST00000361866:exon35:c.G2549A:p.R850H Score=524;Name=lod=179 NA 21q22.3 Score=835;Name=V$CEBP_C NA Name=9 NA rs1053312 0.28 0.28 0.269 0.270168 0.2724 0.1339 0.281 0.4198 0.1984 0.27 0.15 0.3 0.42 0.2888 0.42 0.15 T 0.002 B 0.002 B 0.489 N 0.996 P 0.345 N -1.75 D -1.025 T 0.000 T 0.056 3.756 19.07 0.709 0.063 -0.001 3.456 3.755932 3.755932 0.15 0.30935 0.398488 NA 0.384 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079798.2;CLNDSDB=.;CLNDSDBID=. 11.4627834 507 20 17950545 17950545 A T exonic MGME1 NA nonsynonymous SNV MGME1:NM_052865:exon2:c.A43T:p.S15C exonic ENSG00000125871 NA nonsynonymous SNV ENSG00000125871:ENST00000377704:exon2:c.A43T:p.S15C,ENSG00000125871:ENST00000377709:exon2:c.A43T:p.S15C,ENSG00000125871:ENST00000377710:exon2:c.A43T:p.S15C NA NA 20p11.23 NA Name=c-Myc,USF-1,TBP,Pol2(b),Sin3Ak-20,c-Fos,Max,ELF1_(SC-631),HNF4G_(SC-6558),USF2,Pol2,PU.1,USF1_(SC-8983) Name=124 NA rs11551768 0.08 0.08 0.065 0.0852636 0.1362 0.0288 0.1066 0.0582 0.1125 0.12 0.03 0.12 0.05 0.1041 0.13 0.03 D 0.985 D 0.527 P 0.025 N 1.000 N 1.39 L 0.79 T -1.026 T 0.002 T 0.123 1.545 11.12 -0.887 -0.475 0.776 9.91 1.544737 1.544737 0.03 0.131279 0.071039 NA 0.174 NA 11.4617544 507 6 31239430 31239430 C T exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon2:c.G289A:p.A97T,HLA-C:NM_002117:exon2:c.G289A:p.A97T exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon2:c.G289A:p.A97T,ENSG00000204525:ENST00000376237:exon2:c.G289A:p.A97T,ENSG00000204525:ENST00000383329:exon2:c.G289A:p.A97T NA NA 6p21.33 NA Name=Pol2,RFX5_(N-494),Pol2-4H8,NFKB,CTCF Name=31 NA rs41543814 0.48 0.48 0.429 0.462061 0.4404 0.6567 0.5202 0.3797 0.3538 0.43 0.65 0.51 0.37 0.4329 0.65 1 T 0.002 B 0.008 B 0.005 N 1.000 P . . 9.54 T -0.994 T 0.014 T 0.52 0.631 7.393 -5.5 -1.130 -6.348 0.960 0.631156 NA 1 NA NA ID=COSM329393,COSM329394;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.254 NA 11.4600334 507 20 20493222 20493222 G A exonic RALGAPA2 NA synonymous SNV RALGAPA2:NM_020343:exon32:c.C4791T:p.P1597P exonic ENSG00000188559 NA synonymous SNV ENSG00000188559:ENST00000417022:exon1:c.C81T:p.P27P,ENSG00000188559:ENST00000202677:exon32:c.C4791T:p.P1597P Score=371;Name=lod=43 NA 20p11.23 Score=987;Name=V$AP2ALPHA_01 NA NA NA rs35039408 0.28 0.28 0.227 0.270567 0.4195 0.2163 0.4395 0.0295 0.3793 0.41 0.21 0.42 0.04 0.3774 0.42 0.03 D . . . . 0.000 D 0.000 P . . -3.37 D -1.119 T 0.000 T . 0.835 8.371 -1.68 -0.136 -1.513 5.947 0.835272 NA NA 0.414133 0.09127 ID=COSM1130680,COSM149149;OCCURENCE=1(stomach),1(prostate) 0.268 NA 11.4556336 508 2 219602499 219602499 G C exonic TTLL4 NA nonsynonymous SNV TTLL4:NM_014640:exon3:c.G100C:p.E34Q exonic ENSG00000135912 NA nonsynonymous SNV ENSG00000135912:ENST00000258398:exon1:c.G100C:p.E34Q,ENSG00000135912:ENST00000437755:exon2:c.G100C:p.E34Q,ENSG00000135912:ENST00000392102:exon3:c.G100C:p.E34Q,ENSG00000135912:ENST00000442769:exon3:c.G100C:p.E34Q,ENSG00000135912:ENST00000415717:exon4:c.G100C:p.E34Q,ENSG00000135912:ENST00000424644:exon4:c.G100C:p.E34Q Score=329;Name=lod=29 NA 2q35 NA NA NA NA rs3731877 0.42 0.42 0.436 0.403355 0.4662 0.1409 0.4222 0.6006 0.3292 0.46 0.16 0.42 0.64 0.4387 0.64 0.02 D 0.59 P 0.159 B 0.001 N 0.000 P 1.04 L 1.75 T -1.003 T 0.000 T 0.194 2.755 15.17 5.53 2.601 3.127 13.995 2.754812 2.754812 0 0.474651 0.585111 ID=COSM1600350;OCCURENCE=1(central_nervous_system) 0.522 NA 11.4537824 508 19 20229486 20229486 G A exonic ZNF90 NA nonsynonymous SNV ZNF90:NM_007138:exon4:c.G1123A:p.G375S exonic ENSG00000213988 NA nonsynonymous SNV ENSG00000213988:ENST00000418063:exon4:c.G1123A:p.G375S Score=329;Name=lod=29 NA 19p12 NA Name=KAP1,ZNF274 NA NA rs1725935 0.24 0.24 0.233 0.229034 0.1103 0.495 0.2205 0.1316 0.2147 0.12 0.55 0.19 0.12 0.1746 0.55 . . 0.994 D 0.768 P . . 0.778 P 0.63 N 3.21 T -0.931 T 0.000 T 0.027 2.955 15.85 -1.68 0.293 4.888 6.538 2.955039 2.955039 0.03 0.100566 0.138006 NA 0.174 NA 11.4478674 509 2 165551201 165551201 T C exonic COBLL1 NA nonsynonymous SNV COBLL1:NM_014900:exon12:c.A2815G:p.N939D exonic ENSG00000082438 NA nonsynonymous SNV ENSG00000082438:ENST00000375458:exon11:c.A2701G:p.N901D,ENSG00000082438:ENST00000342193:exon12:c.A2815G:p.N939D,ENSG00000082438:ENST00000409184:exon12:c.A2815G:p.N939D,ENSG00000082438:ENST00000392717:exon13:c.A2929G:p.N977D,ENSG00000082438:ENST00000194871:exon15:c.A3016G:p.N1006D NA Name=Fasting insulin-related traits (interaction with BMI) 2q24.3 NA Name=c-Jun Name=6 NA rs7607980 0.11 0.11 0.123 0.107428 0.1541 0.001 0.0821 0.1861 0.0808 0.15 NA 0.09 0.21 0.1103 0.21 0.61 T 0.804 P 0.311 B 0.442 N 1.000 P 0.695 N . . -1.012 T 0.000 T 0.056 0.327 5.776 -2.65 -0.224 0.534 6.031 0.327468 NA 0.22 0.124884 0.155924 NA 0.138 NA 11.4440494 509 7 141784326 141784326 G C intronic MGAM NA NA NA exonic ENSG00000257335 NA nonsynonymous SNV ENSG00000257335:ENST00000475668:exon54:c.G6389C:p.G2130A Score=539;Name=lod=207 NA 7q34 Score=949;Name=V$PBX1_01 NA NA NA rs10952514 0.27 0.27 0.214 0.2498 0.3777 0.2917 0.2291 0.1112 0.2771 0.36 0.29 0.29 0.09 0.345 0.36 0 D . . . . . . 0.000 P . . . . -1.061 T 0.000 T 0.444 3.2 16.71 4.31 1.341 7.557 12.911 3.199726 3.199726 NA NA NA NA 0.29 NA 11.4439667 509 6 31324024 31324024 C A exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon3:c.G539T:p.R180L exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000434333:exon2:c.G572T:p.R191L,ENSG00000234745:ENST00000412585:exon3:c.G539T:p.R180L NA NA 6p21.33 NA Name=Pol2-4H8 Name=6 NA rs697742 0.48 0.48 0.432 0.4998 0.3877 0.5655 0.4813 0.4894 0.5746 0.4 0.58 0.49 0.49 0.5026 0.58 0.91 T 0.001 B 0.018 B 0.104 N 1.000 P . . 9.53 T -0.941 T 0.000 T 0.561 0.874 8.545 -4.74 -1.333 -2.272 3.974 0.874227 NA 0.82 NA NA NA 0.333 NA 11.4430334 509 11 34916657 34916657 C T exonic APIP NA nonsynonymous SNV APIP:NM_015957:exon2:c.G58A:p.D20N exonic ENSG00000149089 NA nonsynonymous SNV ENSG00000149089:ENST00000395787:exon2:c.G58A:p.D20N,ENSG00000149089:ENST00000278359:exon3:c.G109A:p.D37N Score=525;Name=lod=182 NA 11p13 NA NA NA NA rs61734605 0.15 0.15 0.148 0.114617 0.328 NA 0.1643 0.0204 0.1053 0.34 NA 0.17 0.02 0.2333 0.34 0.16 T 0.338 B 0.093 B 0.000 D 0.000 P 1.14 L 1.82 T -0.937 T 0.000 T 0.034 3.668 18.64 5.17 2.417 6.770 18.655 3.668045 3.668045 0.08 0.334691 0.083106 NA 0.123 NA 11.4373424 509 1 24421950 24421950 C G exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon8:c.G772C:p.D258H exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon8:c.G772C:p.D258H,ENSG00000142661:ENST00000330966:exon8:c.G775C:p.D259H,ENSG00000142661:ENST00000374434:exon8:c.G772C:p.D258H Score=521;Name=lod=174 NA 1p36.11 NA NA NA NA rs4319261 0.46 0.46 0.441 0.410543 0.497 0.377 0.3386 0.5416 0.2301 0.52 0.35 0.38 0.56 0.4249 0.56 0.36 T 0.999 D 0.869 P 0.005 N 0.000 P 0.585 N 0.39 T -0.903 T 0.000 T 0.637 0.784 8.135 5.81 2.764 4.329 17.041 0.783923 NA 0.57 0.474496 0.498407 NA 0.297 NA 11.4369374 509 12 132688115 132688115 C T exonic GALNT9 NA nonsynonymous SNV GALNT9:NM_021808:exon3:c.G100A:p.A34T,GALNT9:NM_001122636:exon7:c.G1198A:p.A400T exonic ENSG00000182870 NA nonsynonymous SNV ENSG00000182870:ENST00000541995:exon2:c.G100A:p.A34T,ENSG00000182870:ENST00000542942:exon2:c.G100A:p.A34T,ENSG00000182870:ENST00000397325:exon3:c.G100A:p.A34T,ENSG00000182870:ENST00000538356:exon3:c.G100A:p.A34T,ENSG00000182870:ENST00000535228:exon4:c.G451A:p.A151T,ENSG00000182870:ENST00000328957:exon7:c.G1198A:p.A400T Score=259;Name=lod=15 NA 12q24.33 NA NA NA NA rs11246991 0.07 0.07 0.065 0.0517173 0.1491 NA 0.0965 0.0068 0.0337 0.14 NA 0.1 0.01 0.1071 0.14 0.11 T 0.996 D 0.778 P 0.000 N 0.000 P 0.105 N 1.3 T -0.971 T 0.002 T 0.331 4.304 22.5 2.97 0.726 5.780 11.222 4.303589 4.303589 0.01 0.141854 0.029817 NA 0.043 NA 11.4352794 510 6 26184102 26184102 G A exonic HIST1H2BE NA nonsynonymous SNV HIST1H2BE:NM_003523:exon1:c.G79A:p.G27S exonic ENSG00000197697 NA nonsynonymous SNV ENSG00000197697:ENST00000356530:exon1:c.G79A:p.G27S Score=619;Name=lod=436 NA 6p22.2 NA Name=TBP,Oct-2,HEY1,Pol2-4H8,Pol2,NRSF,POU2F2,TAF1,GATA-1 NA NA rs7766641 0.36 0.36 0.295 0.352835 0.2833 0.7579 0.3732 0.0204 0.4417 0.29 0.77 0.33 0.03 0.334 0.77 0.11 T . . . . 0.004 U 0.078 P . . 1.95 T -1.115 T 0.049 T 0.107 2.728 15.08 4.18 1.280 7.554 12.907 2.728194 2.728194 0.18 0.281163 0.065138 NA 0.21 NA 11.4348704 510 1 114438951 114438951 A G exonic AP4B1 NA nonsynonymous SNV AP4B1:NM_001253852:exon8:c.T1439C:p.L480S,AP4B1:NM_001253853:exon9:c.T1142C:p.L381S,AP4B1:NM_006594:exon9:c.T1439C:p.L480S exonic ENSG00000134262 NA nonsynonymous SNV ENSG00000134262:ENST00000369567:exon5:c.T935C:p.L312S,ENSG00000134262:ENST00000369569:exon8:c.T1439C:p.L480S,ENSG00000134262:ENST00000256658:exon9:c.T1439C:p.L480S Score=443;Name=lod=84 NA 1p13.2 NA NA Name=27 NA rs1217401 0.35 0.35 0.371 0.376997 0.2694 0.0794 0.2536 0.8003 0.3098 0.28 0.09 0.28 0.79 0.3186 0.79 0.07 T 0.071 B 0.111 B 0.017 N 0.000 P 0.05 N 1.85 T -1.051 T 0.024 T 0.298 2.81 15.36 6.04 2.317 6.230 16.588 2.810246 2.810246 0.13 0.311512 0.684748 NA 0.312 NA 11.4338214 510 5 180046344 180046344 G C exonic FLT4 NA nonsynonymous SNV FLT4:NM_002020:exon19:c.C2670G:p.H890Q,FLT4:NM_182925:exon19:c.C2670G:p.H890Q exonic ENSG00000037280 NA nonsynonymous SNV ENSG00000037280:ENST00000261937:exon19:c.C2670G:p.H890Q,ENSG00000037280:ENST00000393347:exon19:c.C2670G:p.H890Q,ENSG00000037280:ENST00000502649:exon19:c.C2670G:p.H890Q Score=520;Name=lod=173 NA 5q35.3 Score=728;Name=V$SEF1_C Name=HA-E2F1,Pol2-4H8,ZNF263,CTCF_(SC-5916),Pol2,TAF1,CTCF Name=24 NA rs448012 0.53 0.53 0.587 0.582668 0.6531 0.497 0.7464 0.5144 0.5746 0.58 0.44 0.64 0.46 0.6247 0.64 0.29 T 0.18 B 0.285 B . . 0.000 P -0.295 N -1.54 D -0.907 T 0.000 T 0.438 3.023 16.09 1.22 0.126 3.431 8.832 3.023122 3.023122 0.09 0.623371 0.545496 ID=COSM449470,COSM1486680;OCCURENCE=1(breast) 0.246 NA 11.4321624 511 4 2160894 2160894 C T exonic POLN NA synonymous SNV POLN:NM_181808:exon12:c.G1599A:p.L533L exonic ENSG00000130997 NA synonymous SNV ENSG00000130997:ENST00000382865:exon12:c.G1599A:p.L533L,ENSG00000130997:ENST00000511885:exon14:c.G1599A:p.L533L Score=456;Name=lod=95 NA 4p16.3 Score=702;Name=V$LUN1_01 NA NA NA rs10488836 0.2 0.2 0.177 0.201478 0.0706 0.3363 0.1686 0.2579 0.1442 0.07 0.33 0.17 0.25 0.1132 0.33 . . . . . . . . 0.000 P . . . . . . . . . 1.019 9.161 3.6 2.460 2.431 7.645 1.01861 NA NA 0.060581 0.229687 NA 0.167 NA 11.4222856 511 1 91782011 91782011 G A exonic HFM1 NA synonymous SNV HFM1:NM_001017975:exon26:c.C2835T:p.I945I exonic ENSG00000162669 NA synonymous SNV ENSG00000162669:ENST00000370424:exon22:c.C1872T:p.I624I,ENSG00000162669:ENST00000294696:exon26:c.C531T:p.I177I,ENSG00000162669:ENST00000370425:exon26:c.C2835T:p.I945I Score=631;Name=lod=490 NA 1p22.2 Score=843;Name=V$BRN2_01 NA NA NA rs74843031 0.11 0.11 0.106 0.105631 0.0746 0.1726 0.1167 0.1021 0.0654 0.09 0.14 0.15 0.1 0.095 0.15 . . . . . . . . 0.000 P . . . . -0.767 T 0.191 T . 0.829 8.343 4.16 1.103 4.416 15.326 0.829136 NA NA 0.078205 0.106721 ID=COSM146558;OCCURENCE=1(stomach) 0.08 NA 11.4188616 512 5 122359640 122359640 T C exonic PPIC NA nonsynonymous SNV PPIC:NM_000943:exon5:c.A569G:p.N190S exonic ENSG00000168938 NA nonsynonymous SNV ENSG00000168938:ENST00000306442:exon5:c.A569G:p.N190S Score=448;Name=lod=88 NA 5q23.2 NA NA NA NA rs451195 0.16 0.16 0.161 0.141174 0.339 0.0129 0.1902 0.0348 0.1789 0.33 0.01 0.2 0.03 0.2435 0.35 0.17 T 0.001 B 0.001 B 0.000 D 0.000 P 0.055 N 1.31 T -0.965 T 0.000 T 0.006 3.016 16.06 4.74 1.035 4.760 13.205 3.01551 3.01551 0.15 0.346744 0.085792 NA 0.138 NA 11.4040894 512 3 14175262 14175262 T C exonic TMEM43 NA nonsynonymous SNV TMEM43:NM_024334:exon7:c.T536C:p.M179T exonic ENSG00000170876 NA nonsynonymous SNV ENSG00000170876:ENST00000306077:exon7:c.T536C:p.M179T Score=321;Name=lod=27 NA 3p25.1 NA NA NA NA rs2340917 0.46 0.46 0.405 0.463259 0.2624 0.6756 0.5058 0.4508 0.4376 0.26 0.66 0.49 0.49 0.3724 0.66 1 T 0.0 B 0.0 B 0.000 N 0.999 P -1.59 N 1.6 T -0.943 T 0.000 T 0.146 -0.349 2.349 5.32 1.246 3.048 14.217 -0.349307 NA 1 0.295465 0.405583 NA 0.312 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000039389.3|RCV000125539.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.4030684 512 8 23021346 23021346 G A exonic TNFRSF10D NA nonsynonymous SNV TNFRSF10D:NM_003840:exon1:c.C103T:p.P35S exonic ENSG00000173530 NA nonsynonymous SNV ENSG00000173530:ENST00000312584:exon1:c.C103T:p.P35S NA NA 8p21.3 NA Name=ZNF263,Pol2(b),Pol2 Name=135 NA rs11135703 0.28 0.28 0.244 0.259984 0.1133 0.5655 0.33 0.2035 0.1227 0.12 0.55 0.28 0.18 0.2073 0.55 0.3 T 0.997 D 0.879 P 0.756 U 1.000 P 1.895 L -1.55 D -0.979 T 0.000 T 0.099 1.81 12.01 0.373 0.110 0.836 3.631 1.810184 1.810184 0.32 0.112209 0.209941 NA 0.196 NA 11.4005244 512 1 20915701 20915701 A C exonic CDA NA nonsynonymous SNV CDA:NM_001785:exon1:c.A79C:p.K27Q exonic ENSG00000158825 NA nonsynonymous SNV ENSG00000158825:ENST00000375071:exon1:c.A79C:p.K27Q Score=472;Name=lod=110 NA 1p36.12 NA Name=Pol2 NA NA rs2072671 0.21 0.21 0.215 0.192692 0.3141 0.122 0.3055 0.0673 0.2301 0.33 0.13 0.28 0.08 0.2758 0.35 0.42 T 0.004 B 0.005 B 0.001 N 0.000 P 0.465 N 0.98 T -0.964 T 0.000 T 0.194 2.326 13.74 3.98 2.169 1.604 7.795 2.326085 2.326085 0.64 0.346279 0.103495 NA 0.138 NA 11.3971544 513 2 71043461 71043461 C T exonic CLEC4F NA nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G1052A:p.R351H,CLEC4F:NM_173535:exon4:c.G1052A:p.R351H exonic ENSG00000152672 NA nonsynonymous SNV ENSG00000152672:ENST00000272367:exon4:c.G1052A:p.R351H,ENSG00000152672:ENST00000426626:exon4:c.G1052A:p.R351H NA NA 2p13.3 Score=818;Name=V$OCT1_01 NA NA NA rs722896 0.34 0.34 0.342 0.338059 0.3101 0.5248 0.4006 0.1195 0.4254 0.3 0.6 0.34 0.12 0.3313 0.6 0.59 T 0.006 B 0.001 B 0.298 N 1.000 P -0.22 N -1.66 D -1.040 T 0.000 T 0.015 0.693 7.7 -5.05 -1.226 -1.034 11.540 0.692882 NA 0.45 0.301977 0.167726 NA 0.29 NA 11.3899564 513 16 15131962 15131962 A G exonic NTAN1 NA nonsynonymous SNV NTAN1:NM_001270767:exon8:c.T544C:p.S182P,NTAN1:NM_001270766:exon9:c.T544C:p.S182P,NTAN1:NM_173474:exon10:c.T859C:p.S287P exonic ENSG00000157045 NA nonsynonymous SNV ENSG00000157045:ENST00000287706:exon10:c.T859C:p.S287P Score=441;Name=lod=83 NA 16p13.11 Score=906;Name=V$STAT5B_01 NA NA NA rs1135999 0.33 0.33 0.265 0.34405 0.3072 0.37 0.5331 0.1838 0.4376 0.32 0.38 0.48 0.19 0.3411 0.48 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.54 N 1.9 T -0.928 T 0.000 T 0.089 0.729 7.877 5.87 1.644 5.104 14.696 0.729487 NA 1 0.298256 0.224169 NA 0.406 NA 11.3867774 514 1 151315287 151315287 G C exonic RFX5 NA nonsynonymous SNV RFX5:NM_000449:exon11:c.C1226G:p.P409R,RFX5:NM_001025603:exon11:c.C1226G:p.P409R exonic ENSG00000143390 NA nonsynonymous SNV ENSG00000143390:ENST00000452513:exon10:c.C1106G:p.P369R,ENSG00000143390:ENST00000290524:exon11:c.C1226G:p.P409R,ENSG00000143390:ENST00000368870:exon11:c.C1226G:p.P409R,ENSG00000143390:ENST00000392746:exon11:c.C1226G:p.P409R,ENSG00000143390:ENST00000452671:exon11:c.C1226G:p.P409R Score=243;Name=lod=13 NA 1q21.3 NA NA NA NA rs2233854 0.08 0.08 0.07 0.0634984 0.171 NA 0.0994 0.003 0.0746 0.18 NA 0.1 0.002 0.1188 0.18 0 D 0.664 P 0.12 B 0.126 N 0.984 P 1.59 L 1.32 T -1.093 T 0.033 T 0.312 1.252 10.08 3.26 0.749 1.746 8.749 1.252305 1.252305 0 0.16186 0.034952 NA 0.138 NA 11.3816734 514 7 21924014 21924014 A G exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon76:c.A12493G:p.M4165V exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000409508:exon76:c.A12493G:p.M4165V,ENSG00000105877:ENST00000328843:exon77:c.A12514G:p.M4172V Score=527;Name=lod=184 NA 7p15.3 Score=801;Name=V$POU3F2_01 NA NA NA rs6461613 0.65 0.65 0.608 0.622404 0.8539 0.6617 0.634 0.326 0.7362 0.86 0.62 0.65 0.34 0.7558 0.86 0.09 T 0.716 P 0.268 B 0.000 D 0.000 P . . 3.14 T -1.147 T 0.000 T 0.165 2.131 13.08 5.7 2.161 3.699 12.383 2.131495 2.131495 0.02 0.847759 0.439538 NA 0.674 NA 11.3758744 515 17 2091765 2091765 C T exonic SMG6 NA nonsynonymous SNV SMG6:NM_001256828:exon3:c.G190A:p.A64T,SMG6:NM_001256827:exon4:c.G190A:p.A64T,SMG6:NM_017575:exon11:c.G2914A:p.A972T exonic ENSG00000070366 NA nonsynonymous SNV ENSG00000070366:ENST00000536871:exon3:c.G190A:p.A64T,ENSG00000070366:ENST00000570606:exon3:c.G190A:p.A64T,ENSG00000070366:ENST00000570668:exon3:c.G190A:p.A64T,ENSG00000070366:ENST00000571442:exon3:c.G190A:p.A64T,ENSG00000070366:ENST00000575663:exon3:c.G190A:p.A64T,ENSG00000070366:ENST00000354901:exon4:c.G190A:p.A64T,ENSG00000070366:ENST00000570659:exon4:c.G190A:p.A64T,ENSG00000070366:ENST00000263073:exon11:c.G2914A:p.A972T,ENSG00000070366:ENST00000544865:exon11:c.G2821A:p.A941T Score=559;Name=lod=249 NA 17p13.3 NA NA NA NA rs903160 0.35 0.35 0.363 0.403754 0.3091 0.3264 0.3012 0.5499 0.456 0.32 0.28 0.3 0.54 0.3491 0.54 0.37 T 0.0 B 0.001 B 0.000 D 0.722 P -0.55 N 1.63 T -0.922 T 0.000 T 0.316 2.122 13.05 2.5 1.176 1.791 4.303 2.122399 2.122399 0.43 0.307442 0.491602 NA 0.362 NA 11.3676914 516 3 113379865 113379865 G C exonic KIAA2018 NA nonsynonymous SNV KIAA2018:NM_001009899:exon7:c.C664G:p.P222A exonic ENSG00000176542 NA nonsynonymous SNV ENSG00000176542:ENST00000478658:exon5:c.C664G:p.P222A,ENSG00000176542:ENST00000316407:exon7:c.C664G:p.P222A Score=623;Name=lod=455 NA 3q13.2 Score=868;Name=V$NF1_Q6 NA Name=30 NA rs9866806 0.26 0.26 0.231 0.206669 0.3519 0.2004 0.1758 0.1536 0.1575 0.38 0.21 0.21 0.16 0.2885 0.38 0.16 T 0.104 B 0.023 B 0.117 N 0.000 P 0 N 2.6 T -0.901 T 0.000 T 0.085 0.649 7.481 3.04 1.179 0.716 1.794 0.648761 NA 0.42 0.332972 0.147797 NA 0.087 NA 11.3599614 516 12 117693817 117693817 G A exonic NOS1 NA nonsynonymous SNV NOS1:NM_001204218:exon17:c.C2557T:p.P853S exonic ENSG00000089250 NA nonsynonymous SNV ENSG00000089250:ENST00000338101:exon16:c.C2557T:p.P853S Score=561;Name=lod=254 NA 12q24.22 Score=781;Name=V$STAT1_01 NA NA NA rs11068428 0.36 0.36 0.321 0.347444 0.3161 0.502 0.5231 0.2012 0.2935 0.33 0.46 0.5 0.19 0.3457 0.5 0.32 T . . . . . . 0.000 P 0 N 5.08 T -1.087 T 0.000 T 0.165 1.296 10.24 5.05 1.529 2.955 11.083 1.296247 1.296247 0.8 0.314164 0.189498 NA 0.362 NA 11.3573694 517 7 100371474 100371474 G A exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon30:c.G5765A:p.R1922H,ENSG00000146839:ENST00000542585:exon30:c.G5765A:p.R1922H,ENSG00000146839:ENST00000546213:exon30:c.G1298A:p.R433H,ENSG00000146839:ENST00000546292:exon30:c.G5765A:p.R1922H Score=259;Name=lod=15 NA 7q22.1 NA NA NA NA rs78193191 NA NA NA 0.445487 0.3419 0.7867 0.5418 0.2141 0.4448 NA NA NA NA 0.4724 0.33 0.22 T 0.793 P 0.169 B 0.570 N 1.000 N 2.34 M 2.44 T -0.648 T 0.364 T 0.25 3.459 17.72 2.73 1.222 1.873 6.138 3.459247 3.459247 NA NA NA NA 0.297 NA 11.3523667 517 2 238244963 238244963 A G exonic COL6A3 NA nonsynonymous SNV COL6A3:NM_057166:exon37:c.T6959C:p.M2320T,COL6A3:NM_057167:exon39:c.T8162C:p.M2721T,COL6A3:NM_004369:exon40:c.T8780C:p.M2927T exonic ENSG00000163359 NA nonsynonymous SNV ENSG00000163359:ENST00000472056:exon37:c.T6959C:p.M2320T,ENSG00000163359:ENST00000409809:exon38:c.T8162C:p.M2721T,ENSG00000163359:ENST00000346358:exon39:c.T8180C:p.M2727T,ENSG00000163359:ENST00000347401:exon39:c.T8177C:p.M2726T,ENSG00000163359:ENST00000353578:exon39:c.T8162C:p.M2721T,ENSG00000163359:ENST00000295550:exon40:c.T8780C:p.M2927T NA NA 2q37.3 NA Name=PAX5-C20 Name=5 NA rs6728818 0.65 0.65 0.675 0.636581 0.6899 0.5417 0.549 0.8101 0.5072 0.66 0.55 0.58 0.79 0.6386 0.79 1 T 0.0 B 0.0 B 0.270 N 1.000 P 0.14 N -2.18 D -0.941 T 0.000 T 0.008 0.5 6.71 2.21 0.255 1.747 5.073 0.499605 NA NA 0.653757 0.780073 NA 0.725 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081013.2;CLNDSDB=.;CLNDSDBID=. 11.3510764 517 22 24579049 24579049 G A exonic SUSD2 NA nonsynonymous SNV SUSD2:NM_019601:exon2:c.G101A:p.R34H exonic ENSG00000099994 NA nonsynonymous SNV ENSG00000099994:ENST00000358321:exon2:c.G101A:p.R34H Score=295;Name=lod=21 NA 22q11.23 NA NA NA NA rs35660748 NA NA 0.14 NA NA NA NA NA NA NA NA NA NA 0.4841 NA 0.06 T 0.772 P 0.133 B 0.050 N 0.907 N 1.6 L -0.0 T -0.860 T 0.133 T 0.386 2.126 13.07 2.74 2.151 1.506 5.289 2.126204 2.126204 0.01 NA NA ID=COSM1178084;OCCURENCE=1(prostate) NA NA 11.3492334 517 9 126783433 126783433 G C exonic LHX2 NA synonymous SNV LHX2:NM_004789:exon4:c.G783C:p.P261P exonic ENSG00000106689 NA synonymous SNV ENSG00000106689:ENST00000373615:exon4:c.G783C:p.P261P Score=493;Name=lod=135 NA 9q33.3 Score=730;Name=V$PAX4_04 Name=Nrf1,PAX5-N19,PAX5-C20 Name=17 NA rs1042486 0.39 0.39 0.352 0.359026 0.4433 0.4286 0.4712 0.1846 0.3569 0.45 0.41 0.44 0.21 0.4235 0.45 . . . . . . . . 0.000 P . . . . -0.999 T 0.000 T . 1.269 10.14 -3.77 -1.288 0.039 12.213 1.268589 1.268589 NA 0.453721 0.238311 NA 0.333 NA 11.3461456 518 9 78936358 78936358 G A exonic PCSK5 NA nonsynonymous SNV PCSK5:NM_001190482:exon30:c.G3824A:p.G1275D exonic ENSG00000099139 NA nonsynonymous SNV ENSG00000099139:ENST00000424854:exon24:c.G2924A:p.G975D,ENSG00000099139:ENST00000545128:exon30:c.G3824A:p.G1275D NA NA 9q21.13 NA Name=JunD,c-Jun Name=102 NA rs1110222 0.31 0.31 0.327 0.319089 0.341 0.1369 0.2378 0.4592 0.3528 0.34 0.13 0.27 0.48 0.3203 0.48 0.42 T . . . . 0.009 N 1.000 P 2.14 M 1.52 T -0.885 T 0.000 T 0.053 0.946 8.856 4.61 1.334 0.922 8.559 0.945778 NA 0.34 0.329985 0.442352 NA 0.268 NA 11.3420484 518 11 56380134 56380134 C G exonic OR5M1 NA nonsynonymous SNV OR5M1:NM_001004740:exon1:c.G845C:p.S282T exonic ENSG00000255012 NA nonsynonymous SNV ENSG00000255012:ENST00000526538:exon1:c.G845C:p.S282T Score=265;Name=lod=16 NA 11q12.1 NA NA NA NA rs4939078 0.4 0.4 0.338 0.418331 0.3141 0.622 0.5605 0.1815 0.5348 0.31 0.62 0.55 0.16 0.3789 0.62 0.01 D 0.996 D 0.955 D . . 0.985 P -1.85 N 1.15 T -1.045 T 0.000 T 0.128 1.884 12.26 2.77 0.775 0.674 6.886 1.884258 1.884258 NA 0.29917 0.198144 NA 0.341 NA 11.3411634 518 17 37922259 37922259 G A exonic IKZF3 NA synonymous SNV IKZF3:NM_001257413:exon4:c.C651T:p.S217S,IKZF3:NM_001257412:exon5:c.C768T:p.S256S,IKZF3:NM_001257414:exon5:c.C912T:p.S304S,IKZF3:NM_001257409:exon6:c.C1095T:p.S365S,IKZF3:NM_001257411:exon6:c.C885T:p.S295S,IKZF3:NM_183231:exon6:c.C1029T:p.S343S,IKZF3:NM_183232:exon6:c.C1080T:p.S360S,IKZF3:NM_001257408:exon7:c.C1212T:p.S404S,IKZF3:NM_001257410:exon7:c.C1053T:p.S351S,IKZF3:NM_183228:exon7:c.C1146T:p.S382S,IKZF3:NM_183229:exon7:c.C1197T:p.S399S,IKZF3:NM_183230:exon7:c.C1197T:p.S399S,IKZF3:NM_012481:exon8:c.C1314T:p.S438S exonic ENSG00000161405 NA synonymous SNV ENSG00000161405:ENST00000583368:exon3:c.C573T:p.S191S,ENSG00000161405:ENST00000377952:exon4:c.C651T:p.S217S,ENSG00000161405:ENST00000377945:exon5:c.C912T:p.S304S,ENSG00000161405:ENST00000394189:exon5:c.C768T:p.S256S,ENSG00000161405:ENST00000346243:exon6:c.C1080T:p.S360S,ENSG00000161405:ENST00000377944:exon6:c.C885T:p.S295S,ENSG00000161405:ENST00000439016:exon6:c.C1029T:p.S343S,ENSG00000161405:ENST00000439167:exon6:c.C1095T:p.S365S,ENSG00000161405:ENST00000350532:exon7:c.C1197T:p.S399S,ENSG00000161405:ENST00000351680:exon7:c.C1197T:p.S399S,ENSG00000161405:ENST00000377958:exon7:c.C1053T:p.S351S,ENSG00000161405:ENST00000467757:exon7:c.C1146T:p.S382S,ENSG00000161405:ENST00000535189:exon7:c.C1212T:p.S404S,ENSG00000161405:ENST00000346872:exon8:c.C1314T:p.S438S Score=662;Name=lod=654 Name=Primary biliary cirrhosis 17q12 NA Name=ZNF274 NA NA rs907092 0.35 0.35 0.345 0.298722 0.4732 0.2937 0.3401 0.1384 0.3119 0.48 0.35 0.36 0.13 0.4006 0.48 . . . . . . . . 0.000 P . . . . -0.873 T 0.000 T . 0.845 8.414 4.73 1.382 2.032 9.981 0.844787 NA NA 0.453372 0.167045 ID=COSM148259;OCCURENCE=1(stomach) 0.333 NA 11.3394946 518 4 1164277 1164277 C G exonic SPON2 NA nonsynonymous SNV SPON2:NM_012445:exon5:c.G724C:p.V242L,SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L exonic ENSG00000159674 NA nonsynonymous SNV ENSG00000159674:ENST00000290902:exon5:c.G724C:p.V242L,ENSG00000159674:ENST00000431380:exon6:c.G724C:p.V242L Score=295;Name=lod=21 NA 4p16.3 NA NA NA NA rs2279279 0.58 0.58 0.535 0.553315 0.6829 0.6766 0.7089 0.2239 0.6278 0.67 0.7 0.67 0.23 0.6396 0.7 0.46 T 0.27 B 0.071 B 0.001 D 0.067 P 2.015 M 2.99 T -1.010 T 0.000 T 0.102 2.136 13.1 3.83 2.180 2.473 7.163 2.135501 2.135501 0.61 0.671977 0.279165 NA 0.5 NA 11.3388564 518 1 46810530 46810530 A G exonic NSUN4 NA nonsynonymous SNV NSUN4:NM_001256127:exon2:c.A4G:p.T2A,NSUN4:NM_001256128:exon2:c.A4G:p.T2A,NSUN4:NM_199044:exon2:c.A151G:p.T51A exonic ENSG00000117481 NA nonsynonymous SNV ENSG00000117481:ENST00000307089:exon2:c.A151G:p.T51A,ENSG00000117481:ENST00000474844:exon2:c.A151G:p.T51A,ENSG00000117481:ENST00000537428:exon2:c.A4G:p.T2A,ENSG00000117481:ENST00000536062:exon3:c.A4G:p.T2A Score=497;Name=lod=139 NA 1p33 NA NA NA NA rs3737744 0.35 0.35 0.338 0.304513 0.3419 0.5169 0.3559 0.1415 0.2311 0.35 0.49 0.4 0.16 0.3227 0.49 0.5 T 0.004 B 0.005 B 0.000 D 0.002 P 1.445 L 2.54 T -0.912 T 0.000 T 0.252 3.001 16.01 5.45 2.080 5.480 15.186 3.001459 3.001459 NA 0.331279 0.181798 NA 0.159 NA 11.3374544 518 19 9002504 9002504 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon51:c.A40312G:p.N13438D exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000380951:exon3:c.A235G:p.N79D,ENSG00000181143:ENST00000397910:exon51:c.A40312G:p.N13438D Score=278;Name=lod=18 NA 19p13.2 NA NA NA NA rs78327556 NA NA 0.31 0.000798722 NA NA NA 0.003 NA NA NA NA NA 0.4965 NA 0.2 T 0.945 P 0.959 D . . . . 2.81 M 1.19 T -0.730 T 0.198 T 0.281 2.075 12.89 1.72 0.474 1.298 4.463 2.074535 2.074535 0.34 NA NA NA NA NA 11.3368334 518 11 17351683 17351683 C G exonic NUCB2 NA nonsynonymous SNV NUCB2:NM_005013:exon12:c.C1012G:p.Q338E exonic ENSG00000070081 NA nonsynonymous SNV ENSG00000070081:ENST00000458064:exon9:c.C922G:p.Q308E,ENSG00000070081:ENST00000323688:exon12:c.C1012G:p.Q338E,ENSG00000070081:ENST00000529010:exon12:c.C1012G:p.Q338E Score=579;Name=lod=302 NA 11p15.1 NA NA NA NA rs757081 0.26 0.26 0.233 0.237819 0.3111 0.3552 0.2795 0.0182 0.3088 0.3 0.38 0.28 0.03 0.3665 0.38 0.64 T 0.054 B 0.05 B 0.000 D 0.000 P 1.225 L 2.38 T -0.977 T 0.000 T 0.16 1.546 11.12 5.7 2.692 3.992 15.332 1.546059 1.546059 0.44 0.320453 0.058333 NA 0.188 NA 11.3352804 519 9 140611555 140611555 A G exonic EHMT1 NA nonsynonymous SNV EHMT1:NM_001145527:exon3:c.A563G:p.D188G,EHMT1:NM_024757:exon3:c.A563G:p.D188G exonic ENSG00000181090 NA nonsynonymous SNV ENSG00000181090:ENST00000334856:exon3:c.A470G:p.D157G,ENSG00000181090:ENST00000460843:exon3:c.A563G:p.D188G,ENSG00000181090:ENST00000462484:exon3:c.A563G:p.D188G NA NA 9q34.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39 T 0.005 B 0.003 B 0.137 N 1.000 N 1.39 L 1.69 T -0.991 T 0.180 T 0.135 2.146 13.13 4.62 2.236 1.808 7.636 2.145627 2.145627 0.04 NA NA NA NA NA 11.3333334 519 20 33583331 33583331 A G exonic MYH7B NA nonsynonymous SNV MYH7B:NM_020884:exon28:c.A3019G:p.K1007E exonic ENSG00000078814 NA nonsynonymous SNV ENSG00000078814:ENST00000262873:exon26:c.A3019G:p.K1007E Score=499;Name=lod=142 NA 20q11.22 Score=866;Name=V$RORA1_01 NA NA NA rs2425015 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.003 N 0.992 P -3.86 N -1.64 D -0.902 T 0.000 T 0.225 1.729 11.74 5.38 1.534 7.797 14.482 1.728772 1.728772 1 NA NA NA 1 NA 11.3333334 519 3 49841903 49841903 G A exonic FAM212A NA nonsynonymous SNV FAM212A:NM_203370:exon2:c.G347A:p.R116H exonic ENSG00000185614 NA nonsynonymous SNV ENSG00000185614:ENST00000333323:exon2:c.G347A:p.R116H Score=278;Name=lod=18 NA 3p21.31 NA Name=ZNF263,Max Name=30 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008259 NA 0.34 T 0.007 B 0.006 B 0.630 N 0.953 N -0.115 N . . -1.005 T 0.039 T 0.149 0.458 6.489 1.95 0.156 0.528 5.073 0.458382 NA 0.24 NA NA NA NA NA 11.3333251 519 1 44595144 44595144 G T exonic KLF17 NA nonsynonymous SNV KLF17:NM_173484:exon2:c.G201T:p.M67I exonic ENSG00000171872 NA nonsynonymous SNV ENSG00000171872:ENST00000372299:exon2:c.G201T:p.M67I NA NA 1p34.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008433 NA 0.09 T 0.16 B 0.027 B 0.233 N 1.000 N 0.55 N 3.2 T -0.999 T 0.015 T 0.038 1.891 12.28 3.66 1.520 1.800 10.296 1.89087 1.89087 0.05 NA NA NA NA NA 11.333325 519 17 48435851 48435851 G A exonic XYLT2 NA nonsynonymous SNV XYLT2:NM_022167:exon10:c.G2225A:p.R742H exonic ENSG00000015532 NA nonsynonymous SNV ENSG00000015532:ENST00000017003:exon10:c.G2225A:p.R742H Score=587;Name=lod=324 NA 17q21.33 NA NA NA NA rs369581548 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002489 NA 0.14 T 0.023 B 0.009 B 0.014 N 1.000 D 1.59 L 3.56 T -1.002 T 0.014 T 0.235 3.337 17.23 2.62 0.571 1.659 7.786 3.337102 3.337102 0.03 NA NA NA NA NA 11.3333085 519 22 46804943 46804943 T C exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon9:c.A5176G:p.S1726G exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon9:c.A5176G:p.S1726G Score=235;Name=lod=12 NA 22q13.31 NA NA NA NA rs201049711 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004212 NA 1 T 0.0 B 0.0 B 0.001 N 1.000 D -2.12 N -0.08 T -0.939 T 0.044 T 0.061 -1.033 0.216 2.45 0.355 1.784 11.220 -1.032644 NA 1 NA NA NA NA NA 11.3332913 519 1 196963210 196963210 A G exonic CFHR5 NA nonsynonymous SNV CFHR5:NM_030787:exon4:c.A431G:p.K144R exonic ENSG00000134389 NA nonsynonymous SNV ENSG00000134389:ENST00000256785:exon4:c.A431G:p.K144R,ENSG00000134389:ENST00000367414:exon4:c.A503G:p.K168R Score=251;Name=lod=14 NA 1q31.3 NA NA NA NA rs201787238 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.00007569 0.0002 . . 0.378 B 0.15 B . . 1.000 N 0.805 L 1.64 T -0.902 T 0.224 T 0.106 1.534 11.08 3.98 1.448 1.781 9.268 1.533854 1.533854 0.01 0 0.000228 NA NA NA 11.3332577 519 4 159091777 159091777 C G exonic FAM198B NA nonsynonymous SNV FAM198B:NM_001031700:exon2:c.G751C:p.G251R,FAM198B:NM_001128424:exon2:c.G751C:p.G251R,FAM198B:NM_016613:exon2:c.G751C:p.G251R exonic ENSG00000164125 NA nonsynonymous SNV ENSG00000164125:ENST00000296530:exon2:c.G751C:p.G251R,ENSG00000164125:ENST00000393807:exon2:c.G751C:p.G251R,ENSG00000164125:ENST00000585682:exon2:c.G751C:p.G251R,ENSG00000164125:ENST00000592057:exon2:c.G751C:p.G251R NA NA 4q32.1 NA Name=TAF1,CTCF_(SC-5916),Rad21,c-Myc,CTCF Name=34 NA NA NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.0001 NA 0.29 T 0.01 B 0.022 B 0.124 N 1.000 N 1.845 L 1.6 T -1.009 T 0.056 T 0.093 0.525 6.844 2.89 0.487 0.352 0.548 0.524885 NA 0.23 NA NA NA NA NA 11.3332334 519 10 135342118 135342118 C T exonic CYP2E1 NA nonsynonymous SNV CYP2E1:NM_000773:exon2:c.C311T:p.P104L exonic ENSG00000130649 NA nonsynonymous SNV ENSG00000130649:ENST00000252945:exon2:c.C311T:p.P104L,ENSG00000130649:ENST00000463117:exon4:c.C311T:p.P104L NA NA 10q26.3 Score=861;Name=V$NFKB_C NA Name=7 NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0002 NA 0.01 D 0.122 B 0.036 B 0.020 N 1.000 N 1.685 L -0.41 T -0.909 T 0.175 T 0.271 2.605 14.67 -0.662 -0.189 0.769 3.784 2.604515 2.604515 0 NA NA NA NA NA 11.3331334 519 12 50366997 50366997 T G exonic AQP6 NA nonsynonymous SNV AQP6:NM_001652:exon1:c.T41G:p.M14R exonic ENSG00000086159 NA nonsynonymous SNV ENSG00000086159:ENST00000315520:exon1:c.T41G:p.M14R NA NA 12q13.12 NA NA NA NA rs144813201 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 0 D 0.003 B 0.001 B 0.297 N 0.977 N 1.355 L -2.16 D -0.607 T 0.473 T 0.174 1.221 9.954 -4.12 -0.913 -1.076 6.273 1.221033 NA 0 0.000233 0.000227 NA NA NA 11.3330004 519 11 102398322 102398322 C G exonic MMP7 NA nonsynonymous SNV MMP7:NM_002423:exon3:c.G417C:p.E139D exonic ENSG00000137673 NA nonsynonymous SNV ENSG00000137673:ENST00000260227:exon3:c.G417C:p.E139D Score=385;Name=lod=49 NA 11q22.2 NA NA NA NA rs141956671 0.0009 0.0009 NA 0.00219649 NA NA NA 0.0083 NA NA NA NA 0.0041 0.0004 0.0041 0.06 T 0.934 P 0.725 P 0.271 N 1.000 N 1.965 M 0.71 T -0.966 T 0.167 T 0.193 2.329 13.74 1.4 0.398 -1.476 5.537 2.328734 2.328734 0.43 0 0.001816 NA NA NA 11.3329334 519 14 31765138 31765138 T G exonic HEATR5A NA nonsynonymous SNV HEATR5A:NM_015473:exon34:c.A5596C:p.T1866P exonic ENSG00000129493 NA nonsynonymous SNV ENSG00000129493:ENST00000439727:exon28:c.A4717C:p.T1573P,ENSG00000129493:ENST00000439348:exon32:c.A5353C:p.T1785P,ENSG00000129493:ENST00000389961:exon33:c.A5578C:p.T1860P,ENSG00000129493:ENST00000543095:exon34:c.A5596C:p.T1866P Score=631;Name=lod=490 NA 14q12 NA NA Name=2 NA rs200160216 NA NA NA 0.000798722 NA NA 0.0058 NA NA NA NA NA NA 0.0004 NA 0.06 T 0.941 P 0.796 P 0.013 N 1.000 D 1.61 L -0.16 T -0.592 T 0.307 T 0.673 2.321 13.72 0.688 -0.108 0.367 10.246 2.320866 2.320866 0.02 NA NA NA NA NA 11.3329334 519 19 19675769 19675769 C T exonic PBX4 NA nonsynonymous SNV PBX4:NM_025245:exon6:c.G898A:p.A300T exonic ENSG00000105717 NA nonsynonymous SNV ENSG00000105717:ENST00000251203:exon6:c.G898A:p.A300T Score=343;Name=lod=33 NA 19p13.11 Score=967;Name=V$MYOD_Q6 NA NA NA rs116791423 NA NA NA 0.000599042 NA 0.002 NA NA 0.001 NA NA NA NA 0.0003 0.0005 0.6 T 0.003 B 0.001 B 0.015 N 0.817 D 1.005 L -2.69 D -0.708 T 0.435 T 0.051 0.832 8.355 -1.5 -0.431 0.405 4.164 0.831761 NA 0.79 0.000116 0.000454 NA NA NA 11.3329174 519 19 17321596 17321596 G A exonic MYO9B NA nonsynonymous SNV MYO9B:NM_001130065:exon38:c.G5869A:p.G1957S,MYO9B:NM_004145:exon38:c.G5869A:p.G1957S exonic ENSG00000099331 NA nonsynonymous SNV ENSG00000099331:ENST00000598419:exon4:c.G277A:p.G93S,ENSG00000099331:ENST00000597073:exon5:c.G388A:p.G130S,ENSG00000099331:ENST00000595641:exon36:c.G5821A:p.G1941S,ENSG00000099331:ENST00000397274:exon37:c.G5869A:p.G1957S,ENSG00000099331:ENST00000594824:exon38:c.G5869A:p.G1957S,ENSG00000099331:ENST00000595618:exon38:c.G5869A:p.G1957S NA NA 19p13.11 NA NA NA NA rs199522818 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.0003 0.0007 0.73 T 0.051 B 0.004 B 0.387 N 1.000 N 0.695 N -1.77 D -0.867 T 0.320 T 0.079 1.4 10.62 5.01 2.321 3.151 12.407 1.399974 1.399974 0.5 0.000118 0.000712 NA NA NA 11.3329154 519 14 62249083 62249083 C T exonic SNAPC1 NA nonsynonymous SNV SNAPC1:NM_003082:exon8:c.C944T:p.P315L exonic ENSG00000023608 NA nonsynonymous SNV ENSG00000023608:ENST00000216294:exon8:c.C944T:p.P315L Score=304;Name=lod=23 NA 14q23.2 NA NA NA NA rs140945950 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0003 0.33 T 0.181 B 0.074 B 0.481 N 0.995 D 1.1 L . . -1.099 T 0.181 T 0.194 1.529 11.06 5.28 1.602 0.528 14.525 1.528943 1.528943 0.03 0.000349 0 NA NA NA 11.3323844 519 1 10068261 10068261 A G exonic RBP7 NA nonsynonymous SNV RBP7:NM_052960:exon3:c.A283G:p.T95A exonic ENSG00000162444 NA nonsynonymous SNV ENSG00000162444:ENST00000294435:exon3:c.A283G:p.T95A Score=558;Name=lod=246 NA 1p36.22 NA NA NA NA rs145618174 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0005 0.03 D 0.042 B 0.031 B 0.012 N 0.658 N 1.65 L 3.13 T -1.093 T 0.021 T 0.204 2.279 13.58 2.99 0.656 4.396 6.305 2.278853 2.278853 0.03 0.000349 0.000454 NA NA NA 11.3316844 519 2 27424636 27424636 G A exonic SLC5A6 NA nonsynonymous SNV SLC5A6:NM_021095:exon14:c.C1442T:p.S481F exonic ENSG00000138074 NA nonsynonymous SNV ENSG00000138074:ENST00000310574:exon14:c.C1442T:p.S481F,ENSG00000138074:ENST00000408041:exon15:c.C1442T:p.S481F Score=532;Name=lod=194 NA 2p23.3 NA NA NA NA rs1395 0.62 0.62 0.604 0.532548 0.6928 0.8492 0.5245 0.1626 0.547 0.71 0.89 0.57 0.19 0.6193 0.89 0.05 D 0.012 B 0.011 B 0.401 N 0.072 P 1.845 L -2.11 D -0.919 T 0.000 T 0.13 2.234 13.43 4.78 1.391 2.014 12.560 2.234358 2.234358 0.03 0.689884 0.251475 NA 0.442 NA 11.3313494 519 8 24774812 24774812 G A exonic NEFM NA nonsynonymous SNV NEFM:NM_001105541:exon3:c.G316A:p.V106I,NEFM:NM_005382:exon3:c.G1444A:p.V482I exonic ENSG00000104722 NA nonsynonymous SNV ENSG00000104722:ENST00000221166:exon3:c.G1444A:p.V482I,ENSG00000104722:ENST00000433454:exon3:c.G316A:p.V106I,ENSG00000104722:ENST00000437366:exon3:c.G1444A:p.V482I,ENSG00000104722:ENST00000518131:exon3:c.G1444A:p.V482I NA NA 8p21.2 NA NA NA NA rs61751047 NA NA NA 0.000998403 0.001 NA NA 0.003 NA NA NA NA NA 0.0006 0.0034 0.29 T 0.002 B 0.001 B 0.075 N 1.000 N 2.35 M -1.61 D -0.171 T 0.702 D 0.036 -0.907 0.424 1.68 0.499 1.785 6.416 -0.906998 NA 0.05 0.000465 0.003404 ID=COSM454338;OCCURENCE=1(breast) NA NA 11.3312684 519 3 124418879 124418879 T C exonic KALRN NA synonymous SNV KALRN:NM_007064:exon23:c.T2904C:p.Y968Y,KALRN:NM_001024660:exon56:c.T7995C:p.Y2665Y exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000428018:exon22:c.T2808C:p.Y936Y,ENSG00000160145:ENST00000291478:exon23:c.T2904C:p.Y968Y,ENSG00000160145:ENST00000360013:exon56:c.T7995C:p.Y2665Y NA NA 3q21.2 Score=858;Name=V$AP1_01 Name=FOSL2,TAF1,TCF4,HNF4A,HEY1,HNF4G_(SC-6558),RXRA,TBP Name=22 NA rs56047676 0.1 0.1 0.098 0.110423 0.1024 0.0843 0.1182 0.1415 0.0982 0.09 0.07 0.13 0.14 0.1118 0.15 . . . . . . . . 0.000 P . . . . -0.936 T 0.002 T . 0.985 9.021 -3.82 -0.618 -3.477 16.087 0.984823 NA NA 0.121744 0.15025 NA 0.174 NA 11.3307226 519 11 19854088 19854088 G A exonic NAV2 NA nonsynonymous SNV NAV2:NM_001111018:exon2:c.G134A:p.R45K,NAV2:NM_001244963:exon2:c.G326A:p.R109K,NAV2:NM_145117:exon2:c.G326A:p.R109K,NAV2:NM_182964:exon2:c.G326A:p.R109K exonic ENSG00000166833 NA nonsynonymous SNV ENSG00000166833:ENST00000349880:exon2:c.G326A:p.R109K,ENSG00000166833:ENST00000360655:exon2:c.G134A:p.R45K,ENSG00000166833:ENST00000396085:exon2:c.G326A:p.R109K,ENSG00000166833:ENST00000396087:exon2:c.G326A:p.R109K,ENSG00000166833:ENST00000527559:exon3:c.G113A:p.R38K,ENSG00000166833:ENST00000540292:exon3:c.G119A:p.R40K Score=567;Name=lod=268 NA 11p15.1 NA NA Name=2 NA rs6483617 0.42 0.42 0.407 0.405751 0.337 0.3542 0.3804 0.6672 0.1943 0.35 0.36 0.39 0.61 0.3476 0.66 . . 0.0 B 0.0 B 0.000 N 0.000 P -1.24 N 0.43 T -0.956 T 0.000 T 0.193 0.964 8.932 5.83 1.042 6.383 11.722 0.963756 NA 1 0.318425 0.656207 NA 0.384 NA 11.3303084 519 11 18740269 18740269 G A exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon8:c.C703T:p.R235W exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon8:c.C703T:p.R235W,ENSG00000179057:ENST00000513874:exon8:c.C703T:p.R235W NA NA 11p15.1 NA NA NA NA rs201466035 NA NA 0 0.000599042 0.002 NA 0.0014 NA NA NA NA NA NA 0.0007 0.0009 0.03 D 0.999 D 0.96 D 0.073 U 1.000 N 1.965 M 0.61 T -0.918 T 0.191 T 0.424 2.987 15.96 -0.237 -0.329 0.141 3.840 2.987141 2.987141 0.06 0.000855 0 NA NA NA 11.3297784 519 2 72359636 72359636 G C exonic CYP26B1 NA nonsynonymous SNV CYP26B1:NM_001277742:exon5:c.C1034G:p.A345G,CYP26B1:NM_019885:exon6:c.C1259G:p.A420G exonic ENSG00000003137 NA nonsynonymous SNV ENSG00000003137:ENST00000412253:exon5:c.C686G:p.A229G,ENSG00000003137:ENST00000546307:exon5:c.C1034G:p.A345G,ENSG00000003137:ENST00000001146:exon6:c.C1259G:p.A420G Score=340;Name=lod=32 NA 2p13.2 NA NA NA NA rs7568553 0.02 0.02 0.014 0.0175719 NA NA 0.0029 0.0651 NA NA NA 0.01 0.07 0.0048 0.07 0.42 T 0.002 B 0.025 B 0.001 N 0.949 N 0.03 N -0.41 T -1.118 T 0.011 T 0.082 1.826 12.06 4.24 1.530 2.951 4.218 1.825723 1.825723 0.43 0.000581 0.044712 NA 0.022 NA 11.3279524 519 2 37599896 37599896 A C exonic QPCT NA nonsynonymous SNV QPCT:NM_012413:exon7:c.A1012C:p.N338H exonic ENSG00000115828 NA nonsynonymous SNV ENSG00000115828:ENST00000444022:exon4:c.A307C:p.N103H,ENSG00000115828:ENST00000537448:exon6:c.A865C:p.N289H,ENSG00000115828:ENST00000338415:exon7:c.A1012C:p.N338H Score=577;Name=lod=295 NA 2p22.2 NA NA NA NA rs139934664 0.0014 0.0014 0.001 0.00119808 0.003 NA 0.0029 0.0008 NA 0.0026 NA NA 0.002 0.0014 0.0026 0.26 T 0.149 B 0.125 B 0.000 N 1.000 D 1.28 L 0.79 T -1.048 T 0.111 T 0.121 2.15 13.14 2.09 0.108 3.308 14.373 2.149554 2.149554 0.14 0.001279 0.000681 NA NA NA 11.3276544 519 1 111957583 111957583 A G exonic OVGP1 NA nonsynonymous SNV OVGP1:NM_002557:exon11:c.T1540C:p.Y514H exonic ENSG00000085465 NA nonsynonymous SNV ENSG00000085465:ENST00000369732:exon11:c.T1540C:p.Y514H NA NA 1p13.2 NA Name=FOSL2,RXRA NA NA rs1126656 0.19 0.19 0.125 NA NA NA NA NA NA 0.22 0.13 0.19 0.22 0.0065 0.22 0.47 T 0.0 B 0.0 B . . 1.000 P -1.24 N 3.83 T -0.937 T 0.001 T 0.027 -0.615 1.263 -5.76 -3.042 -2.105 1.698 -0.615397 NA 0.11 NA NA NA 0.051 NA 11.3268334 520 1 184023529 184023529 A C exonic TSEN15 NA nonsynonymous SNV TSEN15:NM_001127394:exon2:c.A177C:p.Q59H,TSEN15:NM_052965:exon2:c.A177C:p.Q59H exonic ENSG00000198860 NA nonsynonymous SNV ENSG00000198860:ENST00000361641:exon2:c.A177C:p.Q59H,ENSG00000198860:ENST00000423085:exon2:c.A177C:p.Q59H,ENSG00000198860:ENST00000485209:exon2:c.A177C:p.Q59H,ENSG00000198860:ENST00000533373:exon2:c.A177C:p.Q59H Score=572;Name=lod=282 Name=Height 1q25.3 NA NA NA NA rs1046934 0.32 0.32 0.319 0.302915 0.327 0.4504 0.3026 0.1233 0.3691 0.33 0.46 0.31 0.15 0.3349 0.46 0.01 D 0.007 B 0.021 B 0.000 N 0.000 P 1.905 M 0.79 T -0.977 T 0.000 T 0.38 3.4 17.48 1.56 0.094 1.476 5.549 3.399957 3.399957 0 0.347558 0.162733 NA 0.399 NA 11.3238754 520 22 38219570 38219570 C G exonic GALR3 NA nonsynonymous SNV GALR3:NM_003614:exon1:c.C157G:p.P53A exonic ENSG00000128310 NA nonsynonymous SNV ENSG00000128310:ENST00000249041:exon1:c.C157G:p.P53A Score=415;Name=lod=65 NA 22q13.1 NA NA NA NA rs78650836 0.0005 0.0005 NA 0.000998403 0.001 NA 0.0029 0.0008 0.001 NA NA 0.0028 NA 0.0037 0.006 0.61 T 0.12 B 0.023 B 0.001 N 0.986 N 0.595 N 1.23 T -1.053 T 0.031 T 0.323 1.644 11.45 4.24 2.885 2.077 6.697 1.643789 1.643789 0.76 0.006047 0.001135 NA NA NA 11.3225864 520 19 49206286 49206286 A G exonic FUT2 NA nonsynonymous SNV FUT2:NM_000511:exon2:c.A73G:p.I25V,FUT2:NM_001097638:exon2:c.A73G:p.I25V exonic ENSG00000176920 NA nonsynonymous SNV ENSG00000176920:ENST00000391876:exon2:c.A73G:p.I25V,ENSG00000176920:ENST00000425340:exon2:c.A73G:p.I25V,ENSG00000176920:ENST00000522966:exon2:c.A73G:p.I25V NA NA 19q13.33 NA NA NA NA rs1800021 0.03 0.03 0.028 0.0317492 NA NA 0.0072 0.1165 NA NA NA 0.01 0.1 0.0113 0.12 0.44 T 0.009 B 0.02 B . . 1.000 N 0.74 N -4.05 D -0.652 T 0.036 T 0.037 0.353 5.916 -6.4 -1.565 -1.895 10.915 0.353094 NA 0.3 0.000698 0.118702 NA 0.043 NA 11.3213354 520 15 89169738 89169738 G A exonic AEN NA nonsynonymous SNV AEN:NM_022767:exon2:c.G298A:p.G100R exonic ENSG00000181026 NA nonsynonymous SNV ENSG00000181026:ENST00000332810:exon2:c.G298A:p.G100R,ENSG00000181026:ENST00000379231:exon2:c.G298A:p.G100R,ENSG00000181026:ENST00000559528:exon2:c.G298A:p.G100R NA NA 15q26.1 NA Name=Pol2 NA NA rs147477549 0.0032 0.0032 NA 0.00159744 0.006 NA 0.0014 0.0008 NA 0.01 NA 0.0028 0.002 0.0028 0.01 0.76 T 0.006 B 0.002 B 0.007 N 1.000 N -0.255 N 2.31 T -1.010 T 0.011 T 0.062 -0.57 1.433 -6.78 -1.137 -1.168 3.393 -0.569745 NA 0.48 0.003838 0.000455 NA NA NA 11.3206954 520 12 132626668 132626668 T C exonic DDX51 NA nonsynonymous SNV DDX51:NM_175066:exon5:c.A884G:p.Q295R exonic ENSG00000185163 NA nonsynonymous SNV ENSG00000185163:ENST00000397333:exon5:c.A884G:p.Q295R Score=525;Name=lod=182 NA 12q24.33 NA NA NA NA rs1133690 0.61 0.61 0.557 0.542332 0.6958 0.753 0.6772 0.1989 0.5358 0.69 0.77 0.68 0.24 0.6338 0.77 0.06 T 0.907 P 0.788 P 0.000 D 0.000 P 0.81 L 2.44 T -1.172 T 0.000 T 0.233 4.453 23.7 4.71 1.756 5.419 12.153 4.45307 4.45307 0.26 0.685216 0.309182 NA 0.543 NA 11.3185174 520 4 23815662 23815662 C T exonic PPARGC1A NA nonsynonymous SNV PPARGC1A:NM_013261:exon8:c.G1444A:p.G482S exonic ENSG00000109819 NA nonsynonymous SNV ENSG00000109819:ENST00000264867:exon8:c.G1444A:p.G482S Score=736;Name=lod=1310 NA 4p15.2 Score=807;Name=V$EVI1_01 NA NA NA rs8192678 0.29 0.29 0.285 0.265775 0.3608 0.4425 0.2565 0.0454 0.2904 0.36 0.45 0.23 0.05 0.3081 0.45 1 T 0.053 B 0.004 B 0.000 N 0.000 P -0.805 N 2.09 T -0.944 T 0.000 T 0.024 -0.176 3.141 6.02 1.099 2.170 10.887 -0.176377 NA 1 0.347442 0.103268 NA 0.362 NA 11.3169914 520 2 220097286 220097286 G A exonic ANKZF1 NA nonsynonymous SNV ANKZF1:NM_001042410:exon5:c.G439A:p.E147K,ANKZF1:NM_018089:exon5:c.G439A:p.E147K exonic ENSG00000163516 NA nonsynonymous SNV ENSG00000163516:ENST00000453432:exon4:c.G244A:p.E82K,ENSG00000163516:ENST00000323348:exon5:c.G439A:p.E147K,ENSG00000163516:ENST00000410034:exon5:c.G439A:p.E147K NA NA 2q35 NA NA NA NA rs200506719 0.0018 0.0018 NA 0.00199681 0.004 NA NA NA 0.0061 0.004 NA 0.0028 NA 0.0066 0.011 0.79 T 0.176 B 0.037 B 0.120 N 1.000 N 2.125 M 1.76 T -1.009 T 0.042 T 0.469 1.857 12.17 4.66 1.576 2.407 10.022 1.856758 1.856758 0.04 0.006072 0.002347 NA 0.007 NA 11.3166614 520 19 5772823 5772823 G C exonic CATSPERD NA nonsynonymous SNV CATSPERD:NM_152784:exon20:c.G1788C:p.E596D exonic ENSG00000174898 NA nonsynonymous SNV ENSG00000174898:ENST00000381624:exon20:c.G1788C:p.E596D NA NA 19p13.3 NA NA NA NA rs143660393 0.0032 0.0032 0.004 0.00239617 0.008 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0042 0.01 0.01 D 1.0 D 0.996 D 0.307 N 1.000 N 2.045 M 1.67 T -1.055 T 0.106 T 0.392 2.591 14.63 1.95 0.803 0.810 5.300 2.591332 2.591332 0.01 0.00531 0.00141 NA 0.036 NA 11.3158234 520 5 477508 477508 C T exonic SLC9A3 NA nonsynonymous SNV SLC9A3:NM_004174:exon11:c.G1699A:p.V567M exonic ENSG00000066230 NA nonsynonymous SNV ENSG00000066230:ENST00000264938:exon11:c.G1699A:p.V567M,ENSG00000066230:ENST00000514375:exon11:c.G1672A:p.V558M Score=456;Name=lod=95 NA 5p15.33 Score=783;Name=V$ER_Q6 NA NA NA rs41282627 0.01 0.01 0.009 0.0103834 0.005 NA 0.0014 0.0227 0.0164 0.01 NA NA 0.02 0.0064 0.043 1 T 0.002 B 0.001 B 0.026 N 1.000 N -1.63 N 1.0 T -0.940 T 0.025 T 0.109 0.054 4.298 3.71 0.724 1.407 10.051 0.054464 NA 1 0.006744 0.018157 NA 0.029 NA 11.3151894 521 5 167929035 167929035 G A exonic RARS NA nonsynonymous SNV RARS:NM_002887:exon9:c.G982A:p.V328I exonic ENSG00000113643 NA nonsynonymous SNV ENSG00000113643:ENST00000538719:exon8:c.G364A:p.V122I,ENSG00000113643:ENST00000231572:exon9:c.G982A:p.V328I Score=393;Name=lod=53 NA 5q34 Score=814;Name=V$CEBP_C NA NA NA rs62385662 0.0046 0.0046 0.007 0.0103834 0.007 NA 0.0058 0.0008 0.0409 0.01 NA 0.01 NA 0.0084 0.011 0.72 T 0.003 B 0.014 B 0.000 N 0.897 N -0.025 N -0.24 T -1.032 T 0.083 T 0.072 -0.765 0.773 3.99 0.904 2.042 9.332 -0.765124 NA 1 0.005008 0.000908 NA 0.007 NA 11.3129254 521 17 34190069 34190069 C A exonic C17orf66 NA nonsynonymous SNV C17orf66:NM_152781:exon8:c.G686T:p.G229V exonic ENSG00000172653 NA nonsynonymous SNV ENSG00000172653:ENST00000311880:exon8:c.G686T:p.G229V,ENSG00000172653:ENST00000585840:exon8:c.G686T:p.G229V,ENSG00000172653:ENST00000592980:exon8:c.G566T:p.G189V,ENSG00000172653:ENST00000587573:exon9:c.G464T:p.G155V,ENSG00000172653:ENST00000589015:exon9:c.G584T:p.G195V NA NA 17q12 Score=822;Name=V$HNF4_01_B NA NA NA rs115641363 0.0032 0.0032 0 0.00279553 0.0099 NA 0.0029 NA 0.002 0.01 NA NA NA 0.0048 0.011 0.54 T 0.386 B 0.232 B 0.382 N 1.000 N 0.805 L 0.82 T -1.056 T 0.052 T 0.171 0.701 7.741 -5.35 -1.235 -1.167 2.722 0.701267 NA 0.17 0.006163 0.001589 NA 0.007 NA 11.3124704 521 15 41819367 41819367 T C exonic RPAP1 NA nonsynonymous SNV RPAP1:NM_015540:exon13:c.A1744G:p.R582G exonic ENSG00000103932 NA nonsynonymous SNV ENSG00000103932:ENST00000304330:exon13:c.A1744G:p.R582G,ENSG00000103932:ENST00000561603:exon13:c.A1744G:p.R582G,ENSG00000103932:ENST00000562303:exon13:c.A1744G:p.R582G Score=575;Name=lod=290 NA 15q15.1 NA NA NA NA rs11630901 0.09 0.09 0.083 0.0658946 0.2008 NA 0.1153 0.0098 0.0358 0.21 NA 0.12 0.01 0.132 0.21 0 D 0.704 P 0.197 B 0.002 N 0.251 P 1.39 L -0.87 T -1.065 T 0.000 T 0.46 2.977 15.93 3.43 0.862 1.747 5.368 2.977355 2.977355 0.02 0.188256 0.037903 ID=COSM1372787;OCCURENCE=1(large_intestine) 0.043 NA 11.3122774 521 3 44692564 44692564 C G exonic ZNF35 NA nonsynonymous SNV ZNF35:NM_003420:exon2:c.C5G:p.T2S exonic ENSG00000169981 NA nonsynonymous SNV ENSG00000169981:ENST00000296092:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000396056:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000399560:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000415571:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000432115:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000453164:exon2:c.C5G:p.T2S Score=333;Name=lod=30 NA 3p21.31 NA NA NA NA rs2272044 0.31 0.31 0.275 0.315296 0.1402 0.7907 0.2983 0.0076 0.4335 0.15 0.81 0.27 0.01 0.2404 0.81 0 D 0.779 P 0.191 B . . 0.000 P 0.805 L 2.78 T -1.167 T 0.000 T 0.133 3.725 18.92 4.08 2.298 0.427 12.070 3.725294 3.725294 0 0.141977 0.038584 NA 0.159 NA 11.3107564 521 8 110456917 110456917 G A exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon38:c.G4819A:p.V1607I exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon38:c.G4819A:p.V1607I Score=486;Name=lod=126 NA 8q23.1 NA NA NA NA rs73700891 0.01 0.01 0.016 0.0181709 0.008 NA 0.0159 0.0522 0.0031 0.01 NA 0.01 0.04 0.0095 0.04 0.41 T 0.059 B 0.059 B 0.000 D 0.998 N 1.1 L -1.01 T -1.006 T 0.083 T 0.025 0.101 4.545 2.54 0.901 1.540 8.559 0.101185 NA 0.3 0.008682 0.034965 NA NA NA 11.3071514 521 19 44981862 44981862 A G exonic ZNF180 NA nonsynonymous SNV ZNF180:NM_013256:exon5:c.T836C:p.I279T exonic ENSG00000167384 NA nonsynonymous SNV ENSG00000167384:ENST00000391956:exon4:c.T761C:p.I254T,ENSG00000167384:ENST00000221327:exon5:c.T836C:p.I279T,ENSG00000167384:ENST00000592529:exon5:c.T755C:p.I252T NA NA 19q13.31 NA Name=SETDB1 NA NA rs74472964 0.0032 0.0032 0.003 0.00379393 0.007 NA 0.0072 NA 0.0072 0.01 NA 0.01 NA 0.0081 0.012 0.09 T 0.372 B 0.074 B 0.087 N 0.997 N 0 N 3.28 T -0.976 T 0.007 T 0.081 0.377 6.049 3.08 1.993 1.434 5.237 0.377467 NA 0.05 0.011982 0.001589 NA 0.007 NA 11.3062514 521 11 57886280 57886280 C T exonic OR9I1 NA nonsynonymous SNV OR9I1:NM_001005211:exon1:c.G637A:p.V213I exonic ENSG00000172377 NA nonsynonymous SNV ENSG00000172377:ENST00000302610:exon1:c.G637A:p.V213I NA NA 11q12.1 NA NA NA NA rs113763198 0.01 0.01 0.007 0.00359425 0.0099 0.002 0.0014 NA 0.0051 0.01 0.0035 0.0028 NA 0.0065 0.011 0.66 T 0.096 B 0.025 B 0.001 D 0.995 N 0.72 N 1.27 T -1.041 T 0.032 T 0.038 -0.932 0.375 3.96 1.429 -1.723 4.527 -0.93161 NA 0.33 0.011057 0.002045 NA NA NA 11.3058764 522 1 34401453 34401453 A G exonic CSMD2 NA nonsynonymous SNV CSMD2:NM_052896:exon4:c.T500C:p.L167P exonic ENSG00000121904 NA nonsynonymous SNV ENSG00000121904:ENST00000241312:exon4:c.T500C:p.L167P,ENSG00000121904:ENST00000373381:exon4:c.T620C:p.L207P Score=578;Name=lod=297 NA 1p35.1 NA NA NA NA rs16836099 0.09 0.09 0.101 0.107428 0.002 NA 0.0389 0.385 NA 0.0013 NA 0.05 0.34 0.0327 0.34 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.815 N 0.03 T -1.012 T 0.000 T 0.093 -0.521 1.622 5.27 1.217 2.194 9.555 -0.521336 NA 0.28 0.001977 0.333409 NA 0.138 NA 11.2966564 522 8 8999039 8999039 G T exonic PPP1R3B NA nonsynonymous SNV PPP1R3B:NM_001201329:exon2:c.C123A:p.S41R,PPP1R3B:NM_024607:exon2:c.C123A:p.S41R exonic ENSG00000173281 NA nonsynonymous SNV ENSG00000173281:ENST00000310455:exon2:c.C123A:p.S41R,ENSG00000173281:ENST00000519699:exon2:c.C123A:p.S41R Score=426;Name=lod=72 NA 8p23.1 NA NA NA NA rs61756425 0.02 0.02 0.019 0.0233626 0.007 0.0595 0.013 NA 0.0419 0.01 0.06 0.02 NA 0.0173 0.06 0.72 T 0.001 B 0.001 B 0.588 N 1.000 N 0.805 L 0.93 T -1.060 T 0.010 T 0.046 2.594 14.64 3.94 1.425 2.459 9.210 2.594345 2.594345 0.21 0.013721 0.002497 NA 0.036 NA 11.2953124 523 1 38184382 38184382 C T exonic EPHA10 NA nonsynonymous SNV EPHA10:NM_001099439:exon16:c.G2863A:p.A955T exonic ENSG00000183317 NA nonsynonymous SNV ENSG00000183317:ENST00000330210:exon12:c.G1348A:p.A450T,ENSG00000183317:ENST00000373048:exon16:c.G2863A:p.A955T,ENSG00000183317:ENST00000427468:exon16:c.G2863A:p.A955T NA NA 1p34.3 NA NA NA NA rs11583463 0.0046 0.0046 NA 0.00319489 0.0089 NA 0.0029 0.0008 0.0041 0.01 NA 0.0028 0.002 0.0118 0.019 1 T 0.0 B 0.001 B 0.836 N 0.931 D -0.07 N 3.28 T -0.946 T 0.004 T 0.061 -1.374 0.026 -8.76 -2.307 -1.739 8.703 -1.374266 NA 0.69 0.019111 0.003202 NA NA NA 11.2935224 523 11 86666031 86666031 G A exonic FZD4 NA nonsynonymous SNV FZD4:NM_012193:exon1:c.C97T:p.P33S exonic ENSG00000174804 NA nonsynonymous SNV ENSG00000174804:ENST00000531380:exon1:c.C97T:p.P33S NA NA 11q14.2 NA Name=Egr-1,ZBTB7A_(SC-34508),USF-1,E2F6 Name=42 NA rs61735304 0.01 0.01 NA 0.0125799 0.0109 0.001 0.0245 0.0015 0.0327 0.01 NA 0.02 0.01 0.0153 0.02 . . 0.0 B 0.0 B 0.207 N 1.000 N 0.345 N -1.29 T -0.977 T 0.137 T 0.067 1.547 11.13 3.34 1.152 0.183 7.955 1.547072 1.547072 0.34 0.016235 0.002516 NA 0.007 NA 11.2908984 523 21 44293744 44293744 C G exonic WDR4 NA nonsynonymous SNV WDR4:NM_001260474:exon3:c.G213C:p.K71N,WDR4:NM_018669:exon3:c.G213C:p.K71N,WDR4:NM_033661:exon3:c.G213C:p.K71N exonic ENSG00000160193 NA nonsynonymous SNV ENSG00000160193:ENST00000330317:exon3:c.G213C:p.K71N,ENSG00000160193:ENST00000398208:exon3:c.G213C:p.K71N Score=483;Name=lod=123 NA 21q22.3 NA NA NA NA rs2248490 0.49 0.49 0.521 0.502995 0.5258 0.3363 0.3199 0.7284 0.4765 0.53 0.34 0.37 0.72 0.4968 0.72 0.03 D 0.496 P 0.156 B 0.981 N 0.836 P 1.845 L 1.59 T -0.914 T 0.000 T 0.122 1.773 11.89 3.52 2.302 1.906 5.791 1.772878 1.772878 0.49 0.520349 0.694734 NA 0.601 NA 11.2903844 523 1 16096934 16096934 C T exonic FBLIM1 NA nonsynonymous SNV FBLIM1:NM_001024216:exon2:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F exonic ENSG00000162458 NA nonsynonymous SNV ENSG00000162458:ENST00000332305:exon2:c.C281T:p.S94F,ENSG00000162458:ENST00000400773:exon4:c.C281T:p.S94F,ENSG00000162458:ENST00000502739:exon4:c.C281T:p.S94F,ENSG00000162458:ENST00000441801:exon5:c.C572T:p.S191F,ENSG00000162458:ENST00000375766:exon6:c.C572T:p.S191F,ENSG00000162458:ENST00000375771:exon7:c.C572T:p.S191F Score=581;Name=lod=305 NA 1p36.21 NA NA NA NA rs10927851 0.62 0.62 0.592 0.642372 0.6501 0.8284 0.6931 0.3843 0.7556 0.64 0.81 0.61 0.39 0.6816 0.81 0.73 T 0.997 D 0.916 D 0.059 N 0.025 P 1.125 L 0.93 T -1.081 T 0.000 T 0.335 4.08 21 5.24 2.618 3.566 14.607 4.080246 4.080246 0.04 0.71186 0.430776 NA 0.696 NA 11.2897734 523 5 176308303 176308303 C T exonic HK3 NA nonsynonymous SNV HK3:NM_002115:exon18:c.G2627A:p.R876H exonic ENSG00000160883 NA nonsynonymous SNV ENSG00000160883:ENST00000292432:exon18:c.G2627A:p.R876H Score=405;Name=lod=59 NA 5q35.2 NA NA NA NA rs145827614 0.01 0.01 0.012 0.00778754 0.0169 NA 0.0086 0.0008 0.0153 0.02 NA 0.01 NA 0.0146 0.02 . . 0.0 B 0.0 B 0.015 N 0.987 N -1.94 N -4.0 D -0.496 T 0.312 T 0.098 -0.743 0.838 5.09 0.884 3.248 9.238 -0.742758 NA 1 0.015814 0.003177 NA NA NA 11.2860194 524 19 14499616 14499616 C T exonic CD97 NA nonsynonymous SNV CD97:NM_001025160:exon3:c.C176T:p.T59M,CD97:NM_001784:exon3:c.C176T:p.T59M,CD97:NM_078481:exon3:c.C176T:p.T59M exonic ENSG00000123146 NA nonsynonymous SNV ENSG00000123146:ENST00000586517:exon2:c.C125T:p.T42M,ENSG00000123146:ENST00000242786:exon3:c.C176T:p.T59M,ENSG00000123146:ENST00000357355:exon3:c.C176T:p.T59M,ENSG00000123146:ENST00000358600:exon3:c.C176T:p.T59M,ENSG00000123146:ENST00000587606:exon3:c.C176T:p.T59M,ENSG00000123146:ENST00000591080:exon3:c.C176T:p.T59M,ENSG00000123146:ENST00000592261:exon3:c.C176T:p.T59M NA NA 19p13.12 NA NA NA NA rs139113505 0.04 0.04 0.003 0.0393371 0.0258 0.0188 0.1023 0.0416 0.0266 0.02 0.02 0.09 0.05 0.0246 0.09 0.23 T 0.987 D 0.391 B . . 1.000 N 1.5 L -0.22 T -1.041 T 0.010 T 0.088 0.944 8.85 -6.22 -2.299 -3.944 3.178 0.944315 NA 0.19 NA NA NA 0.007 NA 11.2829334 524 19 9968434 9968434 C T exonic OLFM2 NA nonsynonymous SNV OLFM2:NM_058164:exon3:c.G317A:p.R106Q exonic ENSG00000105088 NA nonsynonymous SNV ENSG00000105088:ENST00000590841:exon2:c.G83A:p.R28Q,ENSG00000105088:ENST00000592448:exon2:c.G83A:p.R28Q,ENSG00000105088:ENST00000264833:exon3:c.G317A:p.R106Q,ENSG00000105088:ENST00000593091:exon3:c.G389A:p.R130Q Score=336;Name=lod=31 NA 19p13.2 NA NA NA NA rs2303100 0.37 0.37 0.327 0.310503 0.5427 0.3095 0.5403 0.0401 0.2751 0.55 0.31 0.54 0.05 0.4593 0.55 . . 0.942 P 0.329 B 0.000 D 0.906 P 1.1 L 0.88 T -0.901 T 0.000 T 0.121 2.904 15.68 3.92 2.025 1.246 7.327 2.90424 2.90424 0.03 0.548605 0.128007 NA 0.319 NA 11.2827284 524 1 52854961 52854961 G A exonic ORC1 NA nonsynonymous SNV ORC1:NM_001190818:exon7:c.C1115T:p.A372V,ORC1:NM_001190819:exon7:c.C1115T:p.A372V,ORC1:NM_004153:exon7:c.C1115T:p.A372V exonic ENSG00000085840 NA nonsynonymous SNV ENSG00000085840:ENST00000371566:exon7:c.C1115T:p.A372V,ENSG00000085840:ENST00000371568:exon7:c.C1115T:p.A372V NA NA 1p32.3 NA NA NA NA rs3087476 0.01 0.01 0.009 0.00798722 0.0169 NA 0.0274 0.0008 0.0031 0.02 NA 0.02 NA 0.0149 0.022 0.55 T 0.262 B 0.015 B 0.783 N 1.000 N 1.7 L 0.99 T -1.052 T 0.044 T 0.012 0.154 4.83 3.18 1.325 2.075 7.872 0.154299 NA 0.19 0.021744 0.004766 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117871.2;CLNDSDB=.;CLNDSDBID=. 11.2797894 524 11 95564259 95564259 A G exonic CEP57 NA nonsynonymous SNV CEP57:NM_001243777:exon10:c.A1264G:p.R422G,CEP57:NM_014679:exon11:c.A1342G:p.R448G,CEP57:NM_001243776:exon12:c.A1315G:p.R439G exonic ENSG00000166037 NA nonsynonymous SNV ENSG00000166037:ENST00000325486:exon10:c.A1264G:p.R422G,ENSG00000166037:ENST00000325542:exon11:c.A1342G:p.R448G,ENSG00000166037:ENST00000537677:exon11:c.A1261G:p.R421G,ENSG00000166037:ENST00000541150:exon11:c.A1315G:p.R439G Score=383;Name=lod=48 NA 11q21 NA NA NA NA rs644799 0.27 0.27 0.277 0.205871 0.3738 0.253 0.2363 0.0772 0.137 0.37 0.28 0.28 0.09 0.2976 0.38 0 D 0.0 B 0.0 B 0.096 N 0.000 P -0.95 N 1.55 T -0.980 T 0.000 T 0.304 0.098 4.527 4.92 1.511 1.006 6.424 0.097865 NA 0.64 0.382271 0.124035 ID=COSM1357997;OCCURENCE=1(large_intestine) 0.246 NA 11.2796624 524 1 53553754 53553754 T C exonic SLC1A7 NA nonsynonymous SNV SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R exonic ENSG00000162383 NA nonsynonymous SNV ENSG00000162383:ENST00000371494:exon11:c.A1610G:p.Q537R Score=445;Name=lod=86 NA 1p32.3 NA Name=Rad21,CTCF Name=6 NA rs1288401 0.46 0.46 0.414 0.410144 0.7336 0.2966 0.4798 0.1498 0.4969 0.74 0.28 0.54 0.16 0.5929 0.74 0.4 T 0.0 B 0.0 B 0.001 N 0.000 P 0.46 N 0.79 T -1.000 T 0.000 T 0.127 1.897 12.3 5.76 2.186 4.223 16.092 1.89696 1.89696 0.43 0.728721 0.261916 ID=COSM146516;OCCURENCE=1(stomach) 0.507 NA 11.2781124 524 10 105824333 105824333 G A exonic COL17A1 NA nonsynonymous SNV COL17A1:NM_000494:exon10:c.C629T:p.T210M exonic ENSG00000065618 NA nonsynonymous SNV ENSG00000065618:ENST00000353479:exon10:c.C629T:p.T210M,ENSG00000065618:ENST00000369733:exon10:c.C629T:p.T210M,ENSG00000065618:ENST00000393211:exon10:c.C629T:p.T210M NA NA 10q25.1 NA NA NA NA rs805708 0.6 0.6 0.56 0.564896 0.6799 0.6746 0.7061 0.2814 0.6166 0.68 0.71 0.71 0.27 0.6739 0.71 0.12 T 1.0 D 0.947 D 0.006 N 0.340 P 1.995 M 0.46 T -0.910 T 0.000 T 0.489 3.586 18.27 5.57 2.627 6.834 19.139 3.586094 3.586094 0.1 0.703023 0.35497 NA 0.623 NA 11.2765104 525 16 74729219 74729219 C T exonic MLKL NA nonsynonymous SNV MLKL:NM_001142497:exon2:c.G437A:p.R146Q,MLKL:NM_152649:exon2:c.G437A:p.R146Q exonic ENSG00000168404 NA nonsynonymous SNV ENSG00000168404:ENST00000306247:exon2:c.G437A:p.R146Q,ENSG00000168404:ENST00000308807:exon2:c.G437A:p.R146Q,ENSG00000168404:ENST00000573267:exon3:c.G437A:p.R146Q NA NA 16q23.1 NA NA Name=3 NA rs34515646 0.01 0.01 0.01 0.00519169 0.0179 NA 0.0058 0.0015 0.002 0.02 NA 0.01 0.002 0.0159 0.025 0.36 T 0.229 B 0.009 B 0.054 N 1.000 N 0 N 2.75 T -0.966 T 0.092 T 0.26 0.79 8.163 -8.08 -1.323 -1.701 7.787 0.789953 NA 0.31 0.024767 0.005914 NA 0.007 NA 11.2747664 525 6 29910761 29910761 G A exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon2:c.G301A:p.D101N,HLA-A:NM_002116:exon2:c.G301A:p.D101N exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon2:c.G301A:p.D101N,ENSG00000206503:ENST00000376806:exon2:c.G301A:p.D101N,ENSG00000206503:ENST00000376809:exon2:c.G301A:p.D101N,ENSG00000206503:ENST00000396634:exon4:c.G301A:p.D101N NA NA 6p22.1 NA Name=Pol2-4H8,CTCF Name=11 NA rs1136688 0.29 0.29 0.192 0.384984 0.3936 0.3115 0.3963 0.3812 0.4489 0.31 0.22 0.35 0.29 0.3543 0.35 0.83 T 0.0 B 0.007 B 0.102 N 1.000 P -1.27 N 5.86 T -0.939 T 0.000 T 0.111 0.519 6.812 -7.15 -3.195 -5.635 9.805 0.518999 NA 1 0.313725 0.268459 NA NA NA 11.2717084 525 3 73114003 73114003 T C exonic PPP4R2 NA synonymous SNV PPP4R2:NM_174907:exon8:c.T639C:p.S213S exonic ENSG00000163605 NA synonymous SNV ENSG00000163605:ENST00000394284:exon7:c.T468C:p.S156S,ENSG00000163605:ENST00000488810:exon7:c.T564C:p.S188S,ENSG00000163605:ENST00000295862:exon8:c.T471C:p.S157S,ENSG00000163605:ENST00000356692:exon8:c.T639C:p.S213S Score=409;Name=lod=61 NA 3p13 NA NA Name=2 NA rs61188513 0.19 0.19 0.203 0.215655 0.1203 0.3542 0.0937 0.1483 0.3487 0.12 0.37 0.1 0.15 0.1681 0.37 . . . . . . . . 0.000 P . . . . -1.084 T 0.000 T . 2.051 12.81 5.56 2.237 3.746 16.005 2.050878 2.050878 NA 0.106834 0.127679 NA 0.13 NA 11.2714326 525 21 46011468 46011468 G A exonic KRTAP10-6 NA nonsynonymous SNV KRTAP10-6:NM_198688:exon1:c.C898T:p.P300S exonic ENSG00000188155 NA nonsynonymous SNV ENSG00000188155:ENST00000400368:exon1:c.C898T:p.P300S Score=417;Name=lod=66 NA 21q22.3 NA NA NA NA rs465279 0.53 0.53 0.5 0.501997 0.7286 0.4435 0.6311 0.236 0.5971 0.71 0.47 0.65 0.23 0.6373 0.71 0.02 D 1.0 D 1.0 D . . 0.000 P 1.795 L 4.58 T -1.146 T 0.000 T 0.15 1.801 11.98 2.7 1.520 . 11.167 1.800987 1.800987 0.01 0.697347 0.299591 NA 0.072 NA 11.2700864 525 2 73491644 73491644 C T exonic FBXO41 NA nonsynonymous SNV FBXO41:NM_001080410:exon5:c.G1568A:p.R523H exonic ENSG00000163013 NA nonsynonymous SNV ENSG00000163013:ENST00000295133:exon6:c.G1751A:p.R584H,ENSG00000163013:ENST00000520530:exon6:c.G1568A:p.R523H,ENSG00000163013:ENST00000521871:exon6:c.G1568A:p.R523H Score=361;Name=lod=39 NA 2p13.2 NA NA NA NA rs61733550 0.02 0.02 0.023 0.0199681 0.0268 NA 0.013 0.0484 NA 0.03 NA 0.02 0.04 0.0178 0.044 0.25 T 0.008 B 0.002 B 0.000 N 1.000 D 1.59 L . . -1.060 T 0.040 T 0.146 2.275 13.56 3.41 0.735 3.783 7.918 2.27477 2.27477 0.13 0.018943 0.044012 NA 0.022 NA 11.2697904 525 1 152083325 152083325 A T exonic TCHH NA nonsynonymous SNV TCHH:NM_007113:exon3:c.T2368A:p.L790M exonic ENSG00000159450 NA nonsynonymous SNV ENSG00000159450:ENST00000368804:exon2:c.T2368A:p.L790M NA Name=Hair morphology 1q21.3 NA Name=CTCF,ZNF263,Pol2 Name=72 NA rs11803731 0.1 0.1 0.088 0.0726837 0.2286 0.001 0.0937 0.0045 0.0634 0.22 0.0017 0.14 0.01 0.1571 0.22 0.08 T 0.989 D 0.737 P . . 1.000 P 0.695 N 3.1 T -0.978 T 0.009 T 0.101 -0.863 0.52 -0.583 0.140 -0.142 1.528 -0.862595 NA NA 0.178324 0.03598 NA 0.094 NA 11.2693094 525 1 114394689 114394689 C T exonic PTPN22 NA nonsynonymous SNV PTPN22:NM_001193431:exon10:c.G788A:p.R263Q,PTPN22:NM_015967:exon10:c.G788A:p.R263Q exonic ENSG00000134242 NA nonsynonymous SNV ENSG00000134242:ENST00000525799:exon5:c.G407A:p.R136Q,ENSG00000134242:ENST00000538253:exon6:c.G56A:p.R19Q,ENSG00000134242:ENST00000359785:exon10:c.G788A:p.R263Q,ENSG00000134242:ENST00000420377:exon10:c.G788A:p.R263Q Score=601;Name=lod=368 NA 1p13.2 NA NA NA NA rs33996649 0.01 0.01 0.012 0.0109824 0.0258 NA 0.0202 0.0023 0.0123 0.02 NA 0.02 0.002 0.0175 0.021 1 T 0.011 B 0.001 B 0.001 N 1.000 N -0.785 N -1.69 D -0.969 T 0.080 T 0.099 0.524 6.84 3.43 0.460 3.684 13.045 0.524195 NA 1 0.021047 0.006355 NA 0.007 NA 11.2689864 525 9 35674053 35674053 G A exonic CA9 NA nonsynonymous SNV CA9:NM_001216:exon1:c.G97A:p.V33M exonic ENSG00000107159 NA nonsynonymous SNV ENSG00000107159:ENST00000378357:exon1:c.G97A:p.V33M Score=358;Name=lod=38 NA 9p13.3 NA Name=Pol2,AP-2alpha,Ini1 NA NA rs2071676 0.32 0.32 0.284 0.323283 0.3569 0.4444 0.4078 0.0764 0.4376 0.34 0.46 0.37 0.11 0.3619 0.46 0 D 0.815 P 0.515 P 0.405 N 0.000 P 1.04 L -0.66 T -1.020 T 0.000 T 0.074 1.689 11.61 3.11 0.654 0.359 8.009 1.688594 1.688594 0 0.348023 0.11507 NA 0.246 NA 11.2665104 525 19 45854919 45854919 T G exonic ERCC2 NA nonsynonymous SNV ERCC2:NM_000400:exon23:c.A2251C:p.K751Q exonic ENSG00000104884 NA nonsynonymous SNV ENSG00000104884:ENST00000391944:exon21:c.A2017C:p.K673Q,ENSG00000104884:ENST00000391945:exon23:c.A2251C:p.K751Q Score=422;Name=lod=69 Name=Lung Cancer (DNA repair capacity) 19q13.32 NA NA NA NA rs13181 0.24 0.24 0.234 0.236621 0.3638 0.0764 0.2147 0.1921 0.3466 0.38 0.09 0.21 0.21 0.3308 0.38 0.89 T 0.0 B 0.001 B 0.200 N 0.000 P 0.62 N -1.42 T -1.087 T 0.000 T 0.075 -0.624 1.232 4.29 1.046 1.198 11.392 -0.623727 NA 0.71 0.372442 0.235361 NA 0.268 NA 11.2662914 525 2 125660609 125660609 C T exonic CNTNAP5 NA nonsynonymous SNV CNTNAP5:NM_130773:exon22:c.C3584T:p.T1195M exonic ENSG00000155052 NA nonsynonymous SNV ENSG00000155052:ENST00000431078:exon22:c.C3584T:p.T1195M NA NA 2q14.3 NA NA NA NA rs34165507 0.01 0.01 0.009 0.0081869 0.0219 NA 0.0115 0.0015 0.0092 0.02 NA 0.01 0.002 0.0214 0.024 0.09 T 0.005 B 0.002 B 0.148 N 1.000 N 2.125 M -2.38 D -0.597 T 0.362 T 0.036 0.166 4.895 -5.46 -1.309 -0.082 8.671 0.166325 NA 0.07 0.024341 0.005176 NA NA NA 11.2656924 526 20 34022387 34022387 A C exonic GDF5 NA nonsynonymous SNV GDF5:NM_000557:exon2:c.T826G:p.S276A exonic ENSG00000125965,ENSG00000204183 NA nonsynonymous SNV ENSG00000125965:ENST00000374369:exon2:c.T826G:p.S276A,ENSG00000204183:ENST00000374375:exon2:c.A431C:p.E144A,ENSG00000125965:ENST00000374372:exon4:c.T826G:p.S276A Score=549;Name=lod=228 NA 20q11.22 NA NA Name=29 NA rs224331 0.34 0.34 0.294 0.383986 0.3539 0.2857 0.2608 0.466 0.4928 0.36 0.24 0.29 0.45 0.3701 0.45 0.73 T 0.0 B 0.001 B 0.037 N 1.000 P -0.69 N -0.1 T -0.939 T 0.000 T 0.141 0.786 8.146 3.54 1.145 1.594 1.889 0.786387 NA 0.31 0.345955 0.414736 ID=COSM1483572,COSM443713,COSM1483571;OCCURENCE=1(breast) 0.355 NA 11.2633784 526 8 125568623 125568623 A G exonic MTSS1 NA synonymous SNV MTSS1:NM_014751:exon12:c.T1254C:p.Y418Y exonic ENSG00000170873 NA synonymous SNV ENSG00000170873:ENST00000395508:exon5:c.T576C:p.Y192Y,ENSG00000170873:ENST00000524090:exon6:c.T924C:p.Y308Y,ENSG00000170873:ENST00000378017:exon12:c.T1179C:p.Y393Y,ENSG00000170873:ENST00000518547:exon12:c.T1254C:p.Y418Y,ENSG00000170873:ENST00000325064:exon13:c.T1266C:p.Y422Y Score=450;Name=lod=90 NA 8q24.13 Score=810;Name=V$ER_Q6 NA NA NA rs3829036 0.17 0.17 0.154 0.138578 0.1431 0.1399 0.219 0.1626 0.0429 0.15 0.16 0.22 0.19 0.1331 0.22 . . . . . . . . 0.000 P . . . . . . . . . 1.311 10.3 -7.28 -1.551 -1.462 15.875 1.311018 1.311018 NA 0.128635 0.146391 NA 0.116 NA 11.2618316 526 18 56204932 56204932 T G exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.A2487C:p.K829N exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.A2487C:p.K829N NA NA 18q21.32 NA Name=Pol2-4H8 NA NA rs3809973 0.44 0.44 0.439 0.404353 0.5726 0.2361 0.4294 0.4319 0.3497 0.59 0.24 0.51 0.38 0.4688 0.59 0.06 T 0.995 D 0.891 P 0.705 N 1.000 P 1.7 L 0.73 T -0.940 T 0.000 T 0.02 2.163 13.19 4.36 2.126 1.866 10.192 2.163361 2.163361 0 0.533488 0.450295 NA 0.522 NA 11.2584454 526 19 57863052 57863052 T C exonic ZNF304 NA nonsynonymous SNV ZNF304:NM_020657:exon1:c.T20C:p.M7T exonic ENSG00000131845 NA nonsynonymous SNV ENSG00000131845:ENST00000282286:exon1:c.T20C:p.M7T,ENSG00000131845:ENST00000443917:exon1:c.T20C:p.M7T,ENSG00000131845:ENST00000391705:exon2:c.T20C:p.M7T NA NA 19q13.43 NA NA Name=4 NA rs117111481 0.01 0.01 0.007 0.00738818 0.0308 NA 0.0072 0.0008 NA 0.03 NA 0.01 NA 0.02 0.03 0.87 T 0.0 B 0.0 B . . 1.000 N 0.97 L 3.35 T -0.911 T 0.004 T 0.053 -2.125 0.005 -4.43 -1.491 -1.136 10.856 -2.12545 NA 0.47 0.026279 0.003631 NA 0.014 NA 11.2562544 526 15 49148192 49148192 T G exonic SHC4 NA nonsynonymous SNV SHC4:NM_203349:exon8:c.A1200C:p.Q400H exonic ENSG00000185634 NA nonsynonymous SNV ENSG00000185634:ENST00000396535:exon5:c.A471C:p.Q157H,ENSG00000185634:ENST00000557797:exon5:c.A342C:p.Q114H,ENSG00000185634:ENST00000558220:exon5:c.A342C:p.Q114H,ENSG00000185634:ENST00000537958:exon6:c.A342C:p.Q114H,ENSG00000185634:ENST00000332408:exon8:c.A1200C:p.Q400H Score=497;Name=lod=139 NA 15q21.1 NA Name=CTCF_(C-20),HNF4A_(H-171),RXRA,CTCF,HNF4G_(SC-6558),Rad21,SMC3_(ab9263),HNF4A Name=121 NA rs16961728 0.04 0.04 0.032 0.0291534 0.0288 0.0823 0.0101 0.003 0.0235 0.03 0.09 0.01 0.0041 0.0295 0.09 0.12 T 0.019 B 0.038 B 0.637 N 0.699 D 1.15 L 3.45 T -1.039 T 0.003 T 0.132 1.559 11.17 -0.005 -0.162 0.087 4.593 1.559255 1.559255 0.11 0.019329 0.004096 ID=COSM1178436;OCCURENCE=1(prostate) 0.007 NA 11.2557044 527 11 7091569 7091569 C T exonic NLRP14 NA nonsynonymous SNV NLRP14:NM_176822:exon11:c.C3028T:p.L1010F exonic ENSG00000158077 NA nonsynonymous SNV ENSG00000158077:ENST00000299481:exon11:c.C3028T:p.L1010F NA NA 11p15.4 NA NA NA NA rs17280682 0.11 0.11 0.104 0.0960463 0.2147 0.0169 0.1297 0.0666 0.0716 0.21 0.02 0.13 0.05 0.1495 0.22 0.08 T 0.706 P 0.433 B 0.002 N 0.999 P 2.28 M 0.07 T -1.077 T 0.000 T 0.193 2.575 14.57 4.13 2.602 2.377 12.195 2.575489 2.575489 0 0.215084 0.083598 NA 0.13 NA 11.2540494 527 10 17156151 17156151 A G exonic CUBN NA nonsynonymous SNV CUBN:NM_001081:exon8:c.T758C:p.F253S exonic ENSG00000107611 NA nonsynonymous SNV ENSG00000107611:ENST00000377833:exon8:c.T758C:p.F253S NA Name=Folate pathway vitamin levels 10p13 NA Name=NRSF Name=79 NA rs1801222 0.77 0.77 0.77 0.799321 0.7107 0.8472 0.7997 0.8056 0.8323 0.7 0.82 0.8 0.78 0.7278 0.82 0.92 T 0.0 B 0.0 B 0.497 N 0.999 P -1.7 N -2.24 D -0.951 T 0.000 T 0.055 -0.296 2.587 2.53 0.346 3.219 9.400 -0.296087 NA 0.83 0.646628 0.799591 NA 0.761 NA 11.2482054 527 12 8329700 8329700 A C exonic ZNF705A NA nonsynonymous SNV ZNF705A:NM_001004328:exon5:c.A424C:p.K142Q exonic ENSG00000196946 NA nonsynonymous SNV ENSG00000196946:ENST00000359286:exon5:c.A424C:p.K142Q,ENSG00000196946:ENST00000396570:exon6:c.A424C:p.K142Q Score=329;Name=lod=29 NA 12p13.31 NA NA NA NA rs10743253 0.47 0.47 0.424 0.429712 0.5616 0.5198 0.4683 0.2882 0.365 0.55 0.52 0.47 0.28 0.4837 0.55 0 D 0.981 D 0.854 P . . 0.997 P 2.955 M 4.36 T -0.959 T 0.000 T 0.097 3.111 16.4 1.35 0.891 3.275 6.812 3.111296 3.111296 0.02 0.541744 0.315479 ID=COSM147416;OCCURENCE=1(stomach) NA NA 11.2462894 527 1 43232504 43232504 C A exonic LEPRE1 NA nonsynonymous SNV LEPRE1:NM_001146289:exon1:c.G139T:p.A47S,LEPRE1:NM_001243246:exon1:c.G139T:p.A47S,LEPRE1:NM_022356:exon1:c.G139T:p.A47S exonic ENSG00000117385 NA nonsynonymous SNV ENSG00000117385:ENST00000236040:exon1:c.G139T:p.A47S,ENSG00000117385:ENST00000296388:exon1:c.G139T:p.A47S,ENSG00000117385:ENST00000372526:exon1:c.G139T:p.A47S,ENSG00000117385:ENST00000397054:exon1:c.G139T:p.A47S Score=629;Name=lod=480 NA 1p34.2 NA Name=ZBTB7A_(SC-34508),NFKB,ETS1,TAF1,Pol2,YY1,Pol2(phosphoS2),Sin3Ak-20,YY1_(C-20),HA-E2F1,Pol2-4H8,ZNF263 NA NA rs55716016 0.03 0.03 0.026 0.0397364 0.0258 0.001 0.0216 0.0794 0.0532 0.03 NA 0.03 0.06 0.0327 0.068 0.4 T 0.047 B 0.02 B 0.023 N 0.983 N -0.05 N 1.22 T -1.056 T 0.004 T 0.164 2.105 13 3.23 0.940 2.122 9.280 2.105025 2.105025 0.37 0.029721 0.067614 NA NA NA 11.2451124 528 2 69650730 69650730 G A exonic NFU1 NA nonsynonymous SNV NFU1:NM_001002755:exon3:c.C286T:p.R96C,NFU1:NM_015700:exon3:c.C214T:p.R72C exonic ENSG00000169599 NA nonsynonymous SNV ENSG00000169599:ENST00000303698:exon3:c.C214T:p.R72C,ENSG00000169599:ENST00000410022:exon3:c.C286T:p.R96C Score=522;Name=lod=177 NA 2p13.3 NA NA NA NA rs74637005 0.02 0.02 0.011 0.0123802 0.0358 NA 0.0245 0.0015 0.0072 0.03 NA 0.03 NA 0.0199 0.037 0.08 T 0.012 B 0.006 B 0.000 N 1.000 D -0.905 N -0.08 T -1.109 T 0.020 T 0.089 1.774 11.89 3.6 0.628 4.488 6.907 1.774476 1.774476 0.06 0.037326 0.009079 NA 0.007 NA 11.2403074 528 6 29911114 29911114 G A exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon3:c.G413A:p.R138Q,HLA-A:NM_002116:exon3:c.G413A:p.R138Q exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon3:c.G413A:p.R138Q,ENSG00000206503:ENST00000376806:exon3:c.G413A:p.R138Q,ENSG00000206503:ENST00000376809:exon3:c.G413A:p.R138Q,ENSG00000206503:ENST00000396634:exon5:c.G413A:p.R138Q NA NA 6p22.1 NA Name=Pol2-4H8 Name=10 NA rs3173420 0.64 0.64 0.562 0.64976 0.5895 0.6766 0.7003 0.7352 0.5327 0.53 0.71 0.66 0.7 0.5447 0.71 0.26 T 0.892 P 0.276 B 0.000 U 1.000 P 0.935 L 9.43 T -0.921 T 0.000 T 0.079 0.292 5.582 -7.13 -2.037 -10.234 8.128 0.292193 NA 0.26 0.463093 0.579018 NA 0.101 NA 11.2360404 528 16 84476200 84476200 A T exonic ATP2C2 NA nonsynonymous SNV ATP2C2:NM_014861:exon15:c.A1396T:p.M466L exonic ENSG00000064270 NA nonsynonymous SNV ENSG00000064270:ENST00000262429:exon15:c.A1396T:p.M466L,ENSG00000064270:ENST00000416219:exon15:c.A1396T:p.M466L Score=469;Name=lod=107 NA 16q24.1 NA NA NA NA rs247897 0.4 0.4 0.391 0.408147 0.3499 0.4226 0.3401 0.4713 0.4162 0.35 0.41 0.36 0.51 0.3729 0.51 0.34 T 0.193 B 0.147 B 0.000 D 0.002 P 0.105 N -3.68 D -1.002 T 0.000 T 0.137 1.447 10.78 3.8 0.794 6.632 11.172 1.446866 1.446866 0.27 0.375122 0.421081 NA 0.37 NA 11.2354114 529 1 153390626 153390626 G A exonic S100A7A NA nonsynonymous SNV S100A7A:NM_176823:exon2:c.G68A:p.R23H exonic ENSG00000184330 NA nonsynonymous SNV ENSG00000184330:ENST00000329256:exon1:c.G68A:p.R23H,ENSG00000184330:ENST00000368728:exon2:c.G68A:p.R23H,ENSG00000184330:ENST00000368729:exon2:c.G68A:p.R23H NA NA 1q21.3 NA NA NA NA rs55985140 0.01 0.01 0.008 0.0105831 0.0348 NA 0.0144 0.0015 0.0061 0.03 NA 0.01 NA 0.0278 0.036 0.21 T 0.002 B 0.0 B . . 1.000 N 1.965 M 2.82 T -0.980 T 0.008 T 0.037 -0.974 0.3 -4.92 -2.016 -2.796 5.587 -0.974224 NA 0.16 0.036512 0.005901 NA 0.058 NA 11.2342214 529 14 39818145 39818145 G A exonic CTAGE5 NA nonsynonymous SNV CTAGE5:NM_001247988:exon22:c.G1996A:p.G666R,CTAGE5:NM_203355:exon22:c.G2083A:p.G695R,CTAGE5:NM_001247989:exon23:c.G2227A:p.G743R,CTAGE5:NM_001247990:exon23:c.G1987A:p.G663R,CTAGE5:NM_005930:exon23:c.G2212A:p.G738R,CTAGE5:NM_203354:exon23:c.G2176A:p.G726R,CTAGE5:NM_203356:exon23:c.G2125A:p.G709R exonic ENSG00000150527,ENSG00000258941 NA nonsynonymous SNV ENSG00000150527:ENST00000348007:exon22:c.G2083A:p.G695R,ENSG00000150527:ENST00000553352:exon22:c.G2125A:p.G709R,ENSG00000150527:ENST00000557038:exon22:c.G1972A:p.G658R,ENSG00000150527:ENST00000280083:exon23:c.G2212A:p.G738R,ENSG00000150527:ENST00000341502:exon23:c.G2212A:p.G738R,ENSG00000150527:ENST00000341749:exon23:c.G2176A:p.G726R,ENSG00000150527:ENST00000396158:exon23:c.G2227A:p.G743R,ENSG00000150527:ENST00000396165:exon23:c.G2125A:p.G709R,ENSG00000150527:ENST00000556148:exon23:c.G1987A:p.G663R,ENSG00000258941:ENST00000603904:exon23:c.G2125A:p.G709R,ENSG00000258941:ENST00000553728:exon27:c.G3817A:p.G1273R Score=399;Name=lod=56 NA 14q21.1 Score=931;Name=V$NFKB_C Name=NFKB NA NA rs1060878 0.29 0.29 0.263 0.310703 0.3837 0.1587 0.2839 0.2973 0.4294 0.38 0.17 0.28 0.32 0.3511 0.39 . . 0.0 B 0.001 B 0.003 N 1.000 P -2.56 N 1.91 T -0.949 T 0.000 T 0.155 -0.907 0.424 3.81 0.329 1.555 4.512 -0.907019 NA 1 0.369039 0.315168 NA 0.478 NA 11.2294944 529 2 182780307 182780307 G A exonic SSFA2 NA nonsynonymous SNV SSFA2:NM_001130445:exon11:c.G1940A:p.G647D,SSFA2:NM_006751:exon11:c.G1940A:p.G647D exonic ENSG00000138434 NA nonsynonymous SNV ENSG00000138434:ENST00000409136:exon3:c.G467A:p.G156D,ENSG00000138434:ENST00000428267:exon10:c.G1481A:p.G494D,ENSG00000138434:ENST00000320370:exon11:c.G1940A:p.G647D,ENSG00000138434:ENST00000409001:exon11:c.G1940A:p.G647D,ENSG00000138434:ENST00000431877:exon11:c.G1940A:p.G647D Score=393;Name=lod=53 NA 2q31.3 Score=705;Name=V$HOX13_01 NA NA NA rs75716247 0.07 0.07 0.074 0.0844649 0.0348 0.0843 0.0403 0.1241 0.1135 0.03 0.11 0.04 0.12 0.0486 0.12 1 T 0.0 B 0.0 B 0.004 N 1.000 P -2.125 N 3.05 T -0.993 T 0.000 T 0.054 -0.017 3.925 5.56 0.948 3.857 11.349 -0.017296 NA 1 0.023721 0.11961 NA 0.065 NA 11.2262124 529 11 60776103 60776103 T C exonic CD6 NA synonymous SNV CD6:NM_001254750:exon4:c.T567C:p.T189T,CD6:NM_001254751:exon4:c.T567C:p.T189T,CD6:NM_006725:exon4:c.T567C:p.T189T exonic ENSG00000013725 NA synonymous SNV ENSG00000013725:ENST00000313421:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000344028:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000344931:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000346437:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000352009:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000433107:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000452451:exon4:c.T567C:p.T189T,ENSG00000013725:ENST00000542157:exon4:c.T567C:p.T189T NA NA 11q12.2 Score=942;Name=V$NMYC_01 Name=USF-1 NA NA rs61899223 0.13 0.13 0.126 0.158746 0.1382 0.0764 0.1081 0.2693 0.1513 0.12 0.06 0.12 0.23 0.1682 0.25 . . . . . . . . 0.000 P . . . . -1.045 T 0.000 T . -0.669 1.073 -8.0 -2.159 -0.993 6.244 -0.669235 NA NA 0.134217 0.248067 NA 0.123 NA 11.2260496 530 14 64520020 64520020 A G exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon48:c.A9389G:p.N3130S,SYNE2:NM_182914:exon48:c.A9389G:p.N3130S exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000344113:exon48:c.A9389G:p.N3130S,ENSG00000054654:ENST00000358025:exon48:c.A9389G:p.N3130S,ENSG00000054654:ENST00000554584:exon48:c.A9488G:p.N3163S NA NA 14q23.2 NA Name=c-Fos Name=8 NA rs11847087 0.06 0.06 0.064 0.0609026 0.0258 NA 0.0303 0.1884 0.0092 0.03 NA 0.04 0.18 0.042 0.18 0.41 T 0.021 B 0.008 B 0.343 N 1.000 P 0.895 L 0.85 T -1.061 T 0.000 T 0.029 1.221 9.954 3.03 0.362 0.894 7.802 1.220848 NA 0.46 0.04056 0.144119 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118559.1;CLNDSDB=.;CLNDSDBID=. 11.2249734 530 6 33169392 33169392 G C exonic SLC39A7 NA nonsynonymous SNV SLC39A7:NM_006979:exon1:c.G370C:p.G124R,SLC39A7:NM_001077516:exon2:c.G370C:p.G124R exonic ENSG00000112473 NA nonsynonymous SNV ENSG00000112473:ENST00000374677:exon1:c.G370C:p.G124R,ENSG00000112473:ENST00000374675:exon2:c.G370C:p.G124R Score=663;Name=lod=660 NA 6p21.32 Score=808;Name=V$ARP1_01 Name=Pol2 NA NA rs35690712 0.03 0.03 0.025 0.0265575 0.0368 0.0129 0.0274 0.0129 0.0481 0.03 0.01 0.04 0.02 0.0354 0.043 0.62 T 0.0 B 0.001 B 0.481 N 0.894 N 0.695 N 0.2 T -1.020 T 0.037 T 0.02 1.848 12.14 2.26 0.308 0.245 5.012 1.847875 1.847875 0.01 0.039066 0.00689 NA 0.072 NA 11.2220674 530 19 44352639 44352639 G A exonic ZNF283 NA nonsynonymous SNV ZNF283:NM_181845:exon7:c.G1886A:p.R629H exonic ENSG00000167637 NA nonsynonymous SNV ENSG00000167637:ENST00000588797:exon6:c.G1469A:p.R490H,ENSG00000167637:ENST00000324461:exon7:c.G1886A:p.R629H NA NA 19q13.31 NA NA NA NA rs1061768 0.16 0.16 0.159 0.14976 0.2227 0.0744 0.1787 0.1316 0.1564 0.23 0.08 0.15 0.17 0.1826 0.23 0 D 0.564 P 0.128 B . . 0.000 P 0.11 N 2.48 T -0.944 T 0.000 T 0.053 1.805 12 2.61 1.440 3.677 12.363 1.805208 1.805208 0 0.207378 0.136605 NA 0.21 NA 11.2206554 530 1 21798144 21798144 C T exonic NBPF3 NA nonsynonymous SNV NBPF3:NM_001256417:exon4:c.C319T:p.R107C,NBPF3:NM_001256416:exon5:c.C529T:p.R177C,NBPF3:NM_032264:exon5:c.C529T:p.R177C exonic ENSG00000142794 NA nonsynonymous SNV ENSG00000142794:ENST00000454000:exon4:c.C319T:p.R107C,ENSG00000142794:ENST00000318249:exon5:c.C529T:p.R177C,ENSG00000142794:ENST00000342104:exon5:c.C529T:p.R177C,ENSG00000142794:ENST00000318220:exon8:c.C361T:p.R121C,ENSG00000142794:ENST00000434838:exon9:c.C361T:p.R121C NA NA 1p36.12 NA NA NA NA rs142355608 0.02 0.02 0.014 0.0185703 0.0358 NA 0.0231 0.0136 0.0235 0.04 NA 0.03 0.01 0.0347 0.047 0.18 T 1.0 D 0.977 D . . 1.000 N 0.835 L 4.09 T -1.064 T 0.027 T 0.443 -0.398 2.136 -2.25 -0.893 -2.305 2.689 -0.397871 NA 0.11 0.046882 0.016795 NA 0.022 NA 11.2159514 531 18 63530016 63530016 A G exonic CDH7 NA nonsynonymous SNV CDH7:NM_004361:exon11:c.A1727G:p.N576S,CDH7:NM_033646:exon11:c.A1727G:p.N576S exonic ENSG00000081138 NA nonsynonymous SNV ENSG00000081138:ENST00000323011:exon11:c.A1727G:p.N576S,ENSG00000081138:ENST00000397968:exon11:c.A1727G:p.N576S,ENSG00000081138:ENST00000536984:exon11:c.A1727G:p.N576S Score=522;Name=lod=177 NA 18q22.1 Score=734;Name=V$PAX4_04 NA NA NA rs2291343 0.68 0.68 0.64 0.629593 0.7087 0.9196 0.7421 0.2814 0.6401 0.71 0.94 0.76 0.28 0.7023 0.94 1 T 0.022 B 0.027 B 0.000 D 0.000 P 0.11 N 0.77 T -0.952 T 0.000 T 0.058 1.639 11.44 5.37 2.044 3.177 15.355 1.639132 1.639132 0.54 0.71 0.35429 NA 0.543 NA 11.2123334 531 9 2838470 2838470 C T exonic KIAA0020 NA nonsynonymous SNV KIAA0020:NM_014878:exon2:c.G38A:p.S13N exonic ENSG00000080608 NA nonsynonymous SNV ENSG00000080608:ENST00000397885:exon2:c.G38A:p.S13N Score=395;Name=lod=54 Name=Obesity-related traits 9p24.2 NA NA Name=99 NA rs10968457 0.04 0.04 0.032 0.0385383 0.0437 0.0536 0.0533 0.0189 0.0337 0.04 0.07 0.04 0.01 0.0406 0.07 0.69 T 0.0 B 0.0 B 0.769 N 1.000 N 0.205 N -2.11 D -1.024 T 0.044 T 0.009 -0.44 1.958 -1.52 -0.419 0.029 10.248 -0.439506 NA NA 0.041088 0.026044 NA 0.058 NA 11.2079454 532 15 63419699 63419699 A C exonic LACTB NA nonsynonymous SNV LACTB:NM_032857:exon4:c.A763C:p.K255Q,LACTB:NM_171846:exon4:c.A763C:p.K255Q exonic ENSG00000103642 NA nonsynonymous SNV ENSG00000103642:ENST00000557972:exon3:c.A286C:p.K96Q,ENSG00000103642:ENST00000261893:exon4:c.A763C:p.K255Q,ENSG00000103642:ENST00000413507:exon4:c.A763C:p.K255Q NA NA 15q22.2 NA NA NA NA rs34536322 0.02 0.02 0.012 0.0153754 0.0507 NA 0.0259 0.0015 0.0061 0.05 NA 0.02 0.0041 0.0311 0.05 0.31 T 0.09 B 0.015 B 0.011 N 0.937 D 0.805 L 0.82 T -1.075 T 0.017 T 0.196 0.779 8.11 6.07 2.330 2.731 11.689 0.778652 NA 0.04 0.047242 0.010667 NA 0.014 NA 11.2042914 532 17 48437456 48437456 C G exonic XYLT2 NA nonsynonymous SNV XYLT2:NM_022167:exon11:c.C2402G:p.T801R exonic ENSG00000015532 NA nonsynonymous SNV ENSG00000015532:ENST00000017003:exon11:c.C2402G:p.T801R NA NA 17q21.33 Score=824;Name=V$GR_Q6 Name=Pol2 NA NA rs6504649 0.27 0.27 0.241 0.250998 0.4006 0.0962 0.2767 0.1989 0.3088 0.41 0.09 0.32 0.23 0.3324 0.41 0 D 0.025 B 0.036 B 0.018 N 0.998 P 0.345 N 3.69 T -0.908 T 0.000 T 0.184 0.282 5.524 1.87 0.273 3.021 5.830 0.281686 NA 0.01 0.397534 0.241489 ID=COSM1384191;OCCURENCE=1(large_intestine) 0.188 CLINSIG=other;CLNDBN=Pseudoxanthoma_elasticum\x2c_modifier_of_severity_of;CLNREVSTAT=single;CLNACC=RCV000002642.2;CLNDSDB=MedGen;CLNDSDBID=C1842481 11.2027994 532 12 56092668 56092668 C T exonic ITGA7 NA nonsynonymous SNV ITGA7:NM_001144996:exon6:c.G836A:p.R279H,ITGA7:NM_001144997:exon6:c.G545A:p.R182H,ITGA7:NM_002206:exon6:c.G824A:p.R275H exonic ENSG00000135424 NA nonsynonymous SNV ENSG00000135424:ENST00000556273:exon3:c.G98A:p.R33H,ENSG00000135424:ENST00000557257:exon4:c.G350A:p.R117H,ENSG00000135424:ENST00000257879:exon6:c.G824A:p.R275H,ENSG00000135424:ENST00000347027:exon6:c.G824A:p.R275H,ENSG00000135424:ENST00000394229:exon6:c.G824A:p.R275H,ENSG00000135424:ENST00000394230:exon6:c.G836A:p.R279H,ENSG00000135424:ENST00000452168:exon6:c.G545A:p.R182H,ENSG00000135424:ENST00000553804:exon6:c.G836A:p.R279H,ENSG00000135424:ENST00000257880:exon7:c.G956A:p.R319H,ENSG00000135424:ENST00000555728:exon7:c.G956A:p.R319H Score=640;Name=lod=530 NA 12q13.2 NA NA NA NA rs74867235 0.02 0.02 0.019 0.0155751 0.0427 0.001 0.0231 0.0038 0.0133 0.04 NA 0.02 0.01 0.0367 0.053 0.23 T 0.017 B 0.02 B 0.028 N 0.696 D 0.205 N 1.96 T -0.982 T 0.032 T 0.255 2.063 12.85 2.64 0.643 -0.015 8.994 2.062739 2.062739 0.09 0.052791 0.010667 NA 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079991.3;CLNDSDB=.;CLNDSDBID=. 11.2011424 532 12 52710721 52710721 G C exonic KRT83 NA nonsynonymous SNV KRT83:NM_002282:exon5:c.C837G:p.I279M exonic ENSG00000170523 NA nonsynonymous SNV ENSG00000170523:ENST00000293670:exon5:c.C837G:p.I279M Score=554;Name=lod=237 NA 12q13.13 NA NA NA NA rs2852464 0.34 0.34 0.361 0.359225 0.3877 0.1885 0.2997 0.4713 0.3967 0.38 0.19 0.31 0.48 0.3624 0.48 0.01 D 0.765 P 0.841 P 0.446 U 0.996 P 2.975 M -2.68 D -1.097 T 0.000 T 0.227 2.043 12.79 -0.295 -0.327 0.505 8.922 2.043241 2.043241 0.01 0.382209 0.457785 ID=COSM147525;OCCURENCE=1(stomach) 0.42 NA 11.2010244 532 6 96034844 96034844 C T exonic MANEA NA nonsynonymous SNV MANEA:NM_024641:exon2:c.C529T:p.R177C exonic ENSG00000172469 NA nonsynonymous SNV ENSG00000172469:ENST00000358812:exon2:c.C529T:p.R177C,ENSG00000172469:ENST00000369293:exon2:c.C529T:p.R177C Score=561;Name=lod=255 NA 6q16.1 NA NA NA NA rs62619206 0.04 0.04 0.038 0.0341454 0.0517 NA 0.0375 0.0643 0.0082 0.04 NA 0.04 0.06 0.0372 0.061 0.04 D 0.038 B 0.01 B 0.023 N 1.000 D 1.455 L . . -1.040 T 0.078 T 0.15 1.839 12.11 2.67 0.233 0.477 9.525 1.838805 1.838805 0.05 0.0436 0.060698 ID=COSM1446510;OCCURENCE=1(large_intestine) 0.036 NA 11.2008334 532 4 89772301 89772301 C A exonic FAM13A NA nonsynonymous SNV FAM13A:NM_014883:exon7:c.G877T:p.A293S exonic ENSG00000138640 NA nonsynonymous SNV ENSG00000138640:ENST00000264344:exon7:c.G877T:p.A293S NA NA 4q22.1 NA Name=CTCF NA NA rs7680970 0.06 0.06 0.071 0.071885 0.0398 NA 0.0202 0.208 0.0317 0.04 NA 0.02 0.19 0.0528 0.2 0.71 T 0.001 B 0.001 B 0.174 N 1.000 P 0.14 N 2.27 T -1.004 T 0.000 T 0.033 -0.996 0.266 -8.65 -2.955 -2.226 1.815 -0.996427 NA 0.73 0.043256 0.199047 NA 0.094 NA 11.1974774 532 2 211456637 211456637 A G exonic CPS1 NA nonsynonymous SNV CPS1:NM_001875:exon10:c.A1030G:p.T344A,CPS1:NM_001122633:exon11:c.A1048G:p.T350A exonic ENSG00000021826 NA nonsynonymous SNV ENSG00000021826:ENST00000233072:exon10:c.A1030G:p.T344A,ENSG00000021826:ENST00000430249:exon11:c.A1048G:p.T350A Score=657;Name=lod=622 NA 2q34 NA NA NA NA rs1047883 0.56 0.56 0.572 NA NA NA NA NA NA 0.55 0.53 0.48 0.69 0.5697 0.69 0.04 D 0.001 B 0.006 B 0.001 N 0.000 P 2.025 M -2.59 D -0.903 T 0.000 T 0.076 1.455 10.81 -0.92 -0.609 0.253 12.858 1.45497 1.45497 0.04 0.567558 0.638901 NA NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116829.2|RCV000124588.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.1960754 532 19 38912764 38912764 A G exonic RASGRP4 NA nonsynonymous SNV RASGRP4:NM_001146202:exon2:c.T53C:p.I18T,RASGRP4:NM_001146203:exon2:c.T53C:p.I18T,RASGRP4:NM_001146204:exon2:c.T53C:p.I18T,RASGRP4:NM_001146205:exon2:c.T53C:p.I18T,RASGRP4:NM_001146206:exon2:c.T53C:p.I18T,RASGRP4:NM_001146207:exon2:c.T53C:p.I18T,RASGRP4:NM_170604:exon2:c.T53C:p.I18T exonic ENSG00000171777 NA nonsynonymous SNV ENSG00000171777:ENST00000293062:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000426920:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000433821:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000454404:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000586305:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000587738:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000587753:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000589358:exon2:c.T53C:p.I18T,ENSG00000171777:ENST00000589474:exon2:c.T53C:p.I18T NA Name=Asperger disorder 19q13.2 Score=874;Name=V$SPZ1_01 NA NA NA rs892055 0.49 0.49 0.465 0.538339 0.3549 0.5536 0.4539 0.6604 0.6063 0.37 0.56 0.42 0.64 0.4307 0.64 1 T 0.019 B 0.011 B 0.832 N 1.000 P -1.39 N 1.7 T -0.935 T 0.000 T 0.016 -2.12 0.005 4.07 1.089 2.730 10.023 -2.119697 NA 1 0.352656 0.578687 NA 0.413 NA 11.1950774 533 12 121615103 121615103 G A exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon11:c.G1042A:p.A348T exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000541446:exon9:c.G175A:p.A59T,ENSG00000089041:ENST00000328963:exon10:c.G532A:p.A178T,ENSG00000089041:ENST00000546057:exon11:c.G1042A:p.A348T,ENSG00000089041:ENST00000535250:exon12:c.G772A:p.A258T Score=349;Name=lod=35 NA 12q24.31 Score=751;Name=V$SEF1_C NA Name=16 NA rs1718119 0.31 0.31 0.334 0.322484 0.3827 0.1419 0.2003 0.4599 0.3476 0.39 0.13 0.21 0.47 0.3582 0.47 1 T 0.001 B 0.0 B 0.044 N 0.000 P -2.095 N 3.88 T -0.964 T 0.000 T 0.399 0.482 6.616 5.62 0.980 0.672 7.451 0.482145 NA 1 0.397442 0.455515 ID=COSM430526;OCCURENCE=1(breast) 0.406 NA 11.1949914 533 2 220420785 220420785 G A exonic OBSL1 NA synonymous SNV OBSL1:NM_001173431:exon14:c.C4566T:p.C1522C,OBSL1:NM_015311:exon14:c.C4566T:p.C1522C exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000265318:exon13:c.C4166T:p.A1389V Score=599;Name=lod=361 NA 2q35 NA NA NA NA rs3087971 0.26 0.26 0.204 0.229233 0.2734 0.2837 0.2983 0.2224 0.0879 0.27 0.3 0.29 0.19 0.2548 0.3 0 D . . . . . . 0.000 P . . 0.43 T -0.959 T 0.000 T . -0.453 1.9 -6.84 -1.935 -2.148 14.848 -0.453356 NA 0 0.278369 0.223168 NA 0.145 NA 11.193431 533 4 69343287 69343287 A G exonic TMPRSS11E NA nonsynonymous SNV TMPRSS11E:NM_014058:exon8:c.A908G:p.Y303C exonic ENSG00000087128 NA nonsynonymous SNV ENSG00000087128:ENST00000305363:exon8:c.A908G:p.Y303C NA NA 4q13.2 NA NA NA NA rs976002 0.19 0.19 0.167 0.190296 0.1879 0.0873 0.317 0.2133 0.1779 0.19 0.08 0.28 0.23 0.2213 0.28 0.12 T 0.986 D 0.631 P 0.353 N 1.000 P 1.32 L -2.4 D -1.215 T 0.000 T 0.148 2.322 13.72 3.0 0.884 2.022 7.869 2.322425 2.322425 0.17 0.231163 0.219927 NA 0.13 NA 11.1929704 533 12 49390677 49390677 T C exonic DDN NA nonsynonymous SNV DDN:NM_015086:exon2:c.A1982G:p.E661G exonic ENSG00000181418 NA nonsynonymous SNV ENSG00000181418:ENST00000421952:exon2:c.A1982G:p.E661G NA NA 12q13.12 NA Name=ELF1_(SC-631),Rad21,CTCF,CTCFL_(SC-98982),Znf143_(16618-1-AP),YY1_(C-20),PU.1,SMC3_(ab9263),CTCF_(C-20),ZBTB7A_(SC-34508),HEY1,CTCF_(SC-5916),YY1 Name=127 NA rs10783299 0.4 0.4 0.423 0.438698 0.3539 0.4425 0.2939 0.553 0.4703 0.36 0.41 0.3 0.55 0.4141 0.55 0.78 T 0.0 B 0.0 B 0.293 N 1.000 P -0.345 N 0.94 T -0.986 T 0.000 T 0.01 -0.158 3.227 -5.81 -2.010 -1.178 2.493 -0.1582 NA 0.46 0.373372 0.511575 ID=COSM147494,COSM1476598;OCCURENCE=1(breast),1(stomach) 0.406 NA 11.1919614 533 1 228505204 228505204 G A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon52:c.G13601A:p.R4534H,OBSCN:NM_052843:exon52:c.G13601A:p.R4534H,OBSCN:NM_001271223:exon63:c.G16472A:p.R5491H exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon52:c.G13601A:p.R4534H,ENSG00000154358:ENST00000366709:exon52:c.G4958A:p.R1653H,ENSG00000154358:ENST00000422127:exon52:c.G13601A:p.R4534H,ENSG00000154358:ENST00000366707:exon58:c.G6503A:p.R2168H,ENSG00000154358:ENST00000570156:exon63:c.G16472A:p.R5491H NA NA 1q42.13 NA NA NA NA rs4653942 0.34 0.34 0.336 0.315296 0.1869 0.499 0.2954 0.3941 0.1656 0.2 0.5 0.31 0.38 0.2619 0.5 0.12 T 0.994 D 0.706 P 0.229 N 1.000 P 0.875 L 0.37 T -0.932 T 0.000 T 0.176 2.12 13.05 2.36 1.099 1.330 2.871 2.120013 2.120013 0.1 0.194378 0.376582 NA 0.254 NA 11.1901554 533 15 42171655 42171655 C A exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon16:c.G2985T:p.Q995H exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon16:c.G2985T:p.Q995H Score=284;Name=lod=19 NA 15q15.1 NA NA NA NA rs55637254 0.02 0.02 0.014 0.0307508 0.0368 0.0129 0.0519 NA 0.0695 0.04 0.01 0.05 NA 0.0699 0.05 0.03 D 0.267 B 0.079 B 0.019 N 0.986 N 1.52 L 0.66 T -1.056 T 0.018 T 0.072 1.476 10.88 2.71 1.024 0.462 5.151 1.476158 1.476158 0.01 0.036685 0.00669 NA NA NA 11.1899484 533 11 8752598 8752598 G C exonic ST5 NA nonsynonymous SNV ST5:NM_213618:exon3:c.C239G:p.P80R,ST5:NM_005418:exon6:c.C239G:p.P80R exonic ENSG00000166444 NA nonsynonymous SNV ENSG00000166444:ENST00000313726:exon3:c.C239G:p.P80R,ENSG00000166444:ENST00000527930:exon3:c.C329G:p.P110R,ENSG00000166444:ENST00000528523:exon3:c.C239G:p.P80R,ENSG00000166444:ENST00000533016:exon3:c.C299G:p.P100R,ENSG00000166444:ENST00000533580:exon3:c.C290G:p.P97R,ENSG00000166444:ENST00000533681:exon3:c.C239G:p.P80R,ENSG00000166444:ENST00000357665:exon4:c.C239G:p.P80R,ENSG00000166444:ENST00000526155:exon4:c.C239G:p.P80R,ENSG00000166444:ENST00000526241:exon4:c.C239G:p.P80R,ENSG00000166444:ENST00000527473:exon4:c.C239G:p.P80R,ENSG00000166444:ENST00000534248:exon4:c.C239G:p.P80R,ENSG00000166444:ENST00000527347:exon5:c.C239G:p.P80R,ENSG00000166444:ENST00000530959:exon5:c.C239G:p.P80R,ENSG00000166444:ENST00000527516:exon6:c.C239G:p.P80R,ENSG00000166444:ENST00000534127:exon6:c.C239G:p.P80R NA NA 11p15.4 NA NA NA NA rs61751342 0.02 0.02 0.022 0.0177716 0.0537 NA 0.0216 0.0008 0.0194 0.05 NA 0.02 0.0041 0.0384 0.055 0.12 T 0.838 P 0.466 P 0.005 N 0.961 N 1.15 L 3.5 T -1.002 T 0.003 T 0.362 1.458 10.82 4.59 1.314 3.158 7.957 1.458111 1.458111 0.37 0.054702 0.01204 NA NA NA 11.1865314 533 6 70984436 70984436 A G exonic COL9A1 NA nonsynonymous SNV COL9A1:NM_078485:exon5:c.T286C:p.S96P,COL9A1:NM_001851:exon11:c.T1015C:p.S339P exonic ENSG00000112280 NA nonsynonymous SNV ENSG00000112280:ENST00000320755:exon5:c.T286C:p.S96P,ENSG00000112280:ENST00000370499:exon5:c.T286C:p.S96P,ENSG00000112280:ENST00000357250:exon11:c.T1015C:p.S339P Score=472;Name=lod=111 NA 6q13 NA NA NA NA rs592121 0.44 0.44 0.466 0.482428 0.3628 0.3145 0.4294 0.7231 0.4908 0.36 0.32 0.4 0.71 0.4065 0.71 0.92 T 0.001 B 0.0 B 0.000 N 0.000 P -2.28 N -2.63 D -0.902 T 0.156 T 0.039 1.706 11.66 4.98 1.496 2.383 12.120 1.705769 1.705769 0.29 0.377558 0.679301 ID=COSM1179829,COSM1179830;OCCURENCE=1(prostate) 0.667 NA 11.1864754 534 18 7034508 7034508 T G exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon14:c.A2021C:p.N674T exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon14:c.A2021C:p.N674T Score=475;Name=lod=114 NA 18p11.31 NA NA NA NA rs566655 0.17 0.17 0.156 0.15016 0.2247 0.1042 0.1974 0.1467 0.092 0.23 0.13 0.18 0.14 0.1928 0.23 1 T 0.751 P 0.446 B 0.000 D 0.490 P -0.12 N 1.55 T -1.050 T 0.000 T 0.116 0.14 4.754 4.75 1.067 0.256 9.799 0.140128 NA NA 0.231047 0.164321 NA 0.138 NA 11.1847864 534 9 103204577 103204577 C G exonic MSANTD3,MSANTD3-TMEFF1 NA synonymous SNV MSANTD3-TMEFF1:NM_001198812:exon1:c.C357G:p.L119L,MSANTD3:NM_001198805:exon2:c.C357G:p.L119L,MSANTD3:NM_001198806:exon2:c.C357G:p.L119L,MSANTD3:NM_001198807:exon2:c.C357G:p.L119L,MSANTD3:NM_080655:exon2:c.C357G:p.L119L exonic ENSG00000066697,ENSG00000241697,ENSG00000251349 NA synonymous SNV ENSG00000241697:ENST00000334943:exon1:c.C18G:p.L6L,ENSG00000066697:ENST00000374885:exon2:c.C357G:p.L119L,ENSG00000066697:ENST00000374886:exon2:c.C357G:p.L119L,ENSG00000066697:ENST00000395067:exon2:c.C357G:p.L119L,ENSG00000066697:ENST00000398977:exon3:c.C357G:p.L119L Score=452;Name=lod=92 NA 9q31.1 NA Name=CTCF NA NA rs35438121 0.08 0.08 0.075 0.0700879 0.167 0.001 0.1239 0.0129 0.0808 0.16 NA 0.14 0.02 0.1381 0.18 0.01 D . . . . . . 0.000 P . . 0.09 T -0.943 T 0.001 T . 1.359 10.47 -2.15 -0.203 -1.163 10.975 1.359305 1.359305 NA 0.17814 0.032229 NA 0.058 NA 11.1834266 534 1 201183424 201183424 G A exonic IGFN1 NA nonsynonymous SNV IGFN1:NM_001164586:exon13:c.G8848A:p.V2950I exonic ENSG00000163395 NA nonsynonymous SNV ENSG00000163395:ENST00000295591:exon13:c.G328A:p.V110I,ENSG00000163395:ENST00000335211:exon13:c.G8848A:p.V2950I,ENSG00000163395:ENST00000437879:exon14:c.G1477A:p.V493I,ENSG00000163395:ENST00000451870:exon14:c.G1477A:p.V493I Score=462;Name=lod=101 NA 1q32.1 Score=879;Name=V$YY1_01 NA NA NA rs41304263 0.03 0.03 0.024 0.019369 0.0437 NA 0.0389 0.0076 0.0164 0.04 NA 0.04 0.02 0.046 0.061 0.13 T 0.433 B 0.286 B 0.199 N 1.000 N 1.98 M -0.23 T -0.968 T 0.035 T 0.127 2.08 12.91 2.75 0.748 0.563 2.109 2.079584 2.079584 0.26 0.060698 0.018157 NA 0.014 NA 11.1829354 534 19 51503285 51503285 C T exonic KLK8 NA nonsynonymous SNV KLK8:NM_007196:exon4:c.G460A:p.V154I,KLK8:NM_144505:exon4:c.G595A:p.V199I exonic ENSG00000129455 NA nonsynonymous SNV ENSG00000129455:ENST00000291726:exon4:c.G460A:p.V154I,ENSG00000129455:ENST00000391806:exon4:c.G595A:p.V199I,ENSG00000129455:ENST00000600767:exon5:c.G460A:p.V154I Score=333;Name=lod=30 NA 19q13.41 NA NA NA NA rs16988799 0.05 0.05 0.052 0.0497204 0.0547 NA 0.0375 0.1142 0.0174 0.06 NA 0.06 0.11 0.0464 0.11 1 T 0.052 B 0.04 B 0.016 N 1.000 D 0.385 N -3.39 D -0.842 T 0.021 T 0.074 -0.415 2.063 1.64 0.376 1.520 6.428 -0.414887 NA 0.57 0.051512 0.100545 NA 0.08 NA 11.1807214 534 2 26679362 26679362 G A exonic DRC1 NA nonsynonymous SNV DRC1:NM_145038:exon17:c.G2200A:p.V734M exonic ENSG00000157856 NA nonsynonymous SNV ENSG00000157856:ENST00000288710:exon17:c.G2200A:p.V734M Score=317;Name=lod=26 NA 2p23.3 NA NA NA NA rs35313480 0.03 0.03 0.018 0.0217652 0.0497 NA 0.0519 0.0023 0.0204 0.05 NA 0.07 0.0041 0.0406 0.07 0.11 T 0.063 B 0.037 B 0.829 N 0.996 N 1.565 L 2.38 T -1.097 T 0.005 T 0.134 1.891 12.28 4.84 2.398 2.445 13.806 1.890752 1.890752 0.1 0.063953 0.009305 NA 0.014 NA 11.1790804 534 4 87770252 87770252 G A exonic SLC10A6 NA nonsynonymous SNV SLC10A6:NM_197965:exon1:c.C17T:p.S6F exonic ENSG00000145283 NA nonsynonymous SNV ENSG00000145283:ENST00000273905:exon1:c.C17T:p.S6F Score=378;Name=lod=46 NA 4q21.3 NA NA NA NA rs17694522 0.03 0.03 0.019 0.0165735 0.0577 NA 0.0245 NA 0.0082 0.07 NA 0.03 NA 0.0408 0.07 0.02 D 0.307 B 0.079 B 0.404 N 0.989 N 0.55 N 3.07 T -0.969 T 0.002 T 0.151 2.831 15.43 4.1 0.771 1.957 9.904 2.830952 2.830952 0.01 0.057209 0.011121 NA 0.007 NA 11.1776244 535 2 160182302 160182302 C T exonic BAZ2B NA nonsynonymous SNV BAZ2B:NM_013450:exon35:c.G6071A:p.S2024N exonic ENSG00000123636 NA nonsynonymous SNV ENSG00000123636:ENST00000343439:exon34:c.G5771A:p.S1924N,ENSG00000123636:ENST00000355831:exon34:c.G5969A:p.S1990N,ENSG00000123636:ENST00000392782:exon34:c.G5963A:p.S1988N,ENSG00000123636:ENST00000392783:exon35:c.G6071A:p.S2024N Score=508;Name=lod=155 NA 2q24.2 NA NA NA NA rs415793 0.25 0.25 0.228 0.250599 0.2097 0.2321 0.1801 0.329 0.2556 0.22 0.21 0.21 0.37 0.2304 0.37 0.33 T 0.763 P 0.229 B 0.001 U 0.047 P 0.695 N 0.32 T -0.956 T 0.000 T 0.068 2.09 12.94 5.78 2.730 2.956 11.376 2.08969 2.08969 0.31 0.218926 0.283954 NA 0.232 NA 11.1743074 535 17 15611495 15611495 T C exonic ZNF286A NA nonsynonymous SNV ZNF286A:NM_001130842:exon5:c.T268C:p.Y90H,ZNF286A:NM_020652:exon5:c.T268C:p.Y90H exonic ENSG00000187607,ENSG00000255104 NA nonsynonymous SNV ENSG00000187607:ENST00000481540:exon3:c.T184C:p.Y62H,ENSG00000187607:ENST00000395893:exon4:c.T268C:p.Y90H,ENSG00000255104:ENST00000412988:exon4:c.T238C:p.Y80H,ENSG00000187607:ENST00000464847:exon4:c.T268C:p.Y90H,ENSG00000187607:ENST00000472486:exon4:c.T238C:p.Y80H,ENSG00000187607:ENST00000593105:exon4:c.T238C:p.Y80H,ENSG00000187607:ENST00000395894:exon5:c.T268C:p.Y90H,ENSG00000255104:ENST00000413242:exon5:c.T268C:p.Y90H,ENSG00000187607:ENST00000421016:exon5:c.T268C:p.Y90H,ENSG00000187607:ENST00000580393:exon5:c.T397C:p.Y133H,ENSG00000187607:ENST00000583566:exon5:c.T268C:p.Y90H,ENSG00000187607:ENST00000585194:exon5:c.T268C:p.Y90H Score=433;Name=lod=77 NA 17p12 NA NA NA NA rs3760299 0.48 0.48 0.465 0.508187 0.3708 0.626 0.4207 0.5703 0.5061 0.38 0.6 0.39 0.58 0.4247 0.6 0.03 D 0.001 B 0.001 B . . 0.106 P -0.145 N 5.68 T -1.062 T 0.000 T 0.178 1.12 9.566 3.9 1.029 1.340 7.510 1.119785 NA 0.19 0.367326 0.558783 ID=COSM436076;OCCURENCE=1(breast) 0.362 NA 11.1705074 535 1 117576522 117576522 A T exonic CD101 NA nonsynonymous SNV CD101:NM_001256106:exon9:c.A2865T:p.L955F,CD101:NM_001256109:exon9:c.A2865T:p.L955F,CD101:NM_001256111:exon9:c.A2679T:p.L893F,CD101:NM_004258:exon9:c.A2865T:p.L955F exonic ENSG00000134256 NA nonsynonymous SNV ENSG00000134256:ENST00000256652:exon9:c.A2865T:p.L955F,ENSG00000134256:ENST00000369470:exon9:c.A2865T:p.L955F NA NA 1p13.1 NA NA NA NA rs34223095 0.03 0.03 0.022 0.0455272 0.0477 0.002 0.0663 0.0008 0.1339 0.05 0.0017 0.07 NA 0.0566 0.07 0 D 0.386 B 0.101 B 0.049 N 1.000 N 1.1 L 3.16 T -1.058 T 0.006 T 0.204 2.175 13.23 -8.22 -1.695 -1.784 12.139 2.174648 2.174648 0.09 0.05907 0.011348 NA 0.029 NA 11.1699634 535 8 32453358 32453358 G A exonic NRG1 NA nonsynonymous SNV NRG1:NM_001160002:exon2:c.G113A:p.R38Q,NRG1:NM_001160004:exon2:c.G113A:p.R38Q,NRG1:NM_001160005:exon2:c.G113A:p.R38Q,NRG1:NM_001160007:exon2:c.G113A:p.R38Q,NRG1:NM_001160008:exon2:c.G113A:p.R38Q,NRG1:NM_004495:exon2:c.G113A:p.R38Q,NRG1:NM_013956:exon2:c.G113A:p.R38Q,NRG1:NM_013957:exon2:c.G113A:p.R38Q,NRG1:NM_013958:exon2:c.G113A:p.R38Q,NRG1:NM_013960:exon2:c.G113A:p.R38Q,NRG1:NM_013962:exon2:c.G758A:p.R253Q,NRG1:NM_013964:exon2:c.G113A:p.R38Q exonic ENSG00000157168 NA nonsynonymous SNV ENSG00000157168:ENST00000287840:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000287842:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000287845:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000338921:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000341377:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000356819:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000518104:exon2:c.G50A:p.R17Q,ENSG00000157168:ENST00000519301:exon2:c.G50A:p.R17Q,ENSG00000157168:ENST00000520407:exon2:c.G758A:p.R253Q,ENSG00000157168:ENST00000521670:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000523079:exon2:c.G113A:p.R38Q,ENSG00000157168:ENST00000523534:exon2:c.G317A:p.R106Q,ENSG00000157168:ENST00000405005:exon3:c.G113A:p.R38Q Score=496;Name=lod=138 NA 8p12 NA NA NA NA rs3924999 0.41 0.41 0.414 0.385184 0.3767 0.7589 0.3746 0.0666 0.4468 0.37 0.78 0.35 0.09 0.3913 0.78 0.08 T 0.966 D 0.245 B 0.020 N 0.000 P 0.895 L 1.02 T -1.014 T 0.000 T 0.326 3.45 17.68 5.65 2.826 3.343 9.101 3.450326 3.450326 0.05 0.395814 0.133 NA 0.391 NA 11.1695194 536 10 102050242 102050242 C A exonic PKD2L1 NA nonsynonymous SNV PKD2L1:NM_001253837:exon13:c.G1901T:p.R634L,PKD2L1:NM_016112:exon13:c.G2042T:p.R681L exonic ENSG00000107593 NA nonsynonymous SNV ENSG00000107593:ENST00000338519:exon12:c.G1817T:p.R606L,ENSG00000107593:ENST00000318222:exon13:c.G2042T:p.R681L,ENSG00000107593:ENST00000353274:exon13:c.G2042T:p.R681L NA NA 10q24.31 NA NA NA NA rs6584356 0.07 0.07 0.063 0.0836661 0.0577 0.0605 0.0591 0.1248 0.0961 0.06 0.07 0.07 0.1 0.0593 0.1 0.01 D 0.268 B 0.051 B 0.408 N 1.000 P 1.585 L -0.82 T -0.903 T 0.013 T 0.049 1.023 9.177 -6.23 -1.207 -1.306 14.653 1.02255 NA 0.01 0.054884 0.098048 NA 0.051 NA 11.1614494 536 16 1129010 1129010 C A exonic SSTR5 NA nonsynonymous SNV SSTR5:NM_001053:exon1:c.C142A:p.L48M,SSTR5:NM_001172560:exon2:c.C142A:p.L48M exonic ENSG00000162009 NA nonsynonymous SNV ENSG00000162009:ENST00000293897:exon1:c.C142A:p.L48M,ENSG00000162009:ENST00000562758:exon1:c.C142A:p.L48M,ENSG00000162009:ENST00000397547:exon2:c.C142A:p.L48M Score=389;Name=lod=51 NA 16p13.3 NA NA NA NA rs4988483 0.03 0.03 0.042 0.0213658 0.0646 NA 0.0403 0.003 0.0102 0.05 NA 0.04 0.01 0.0528 0.055 0.24 T 0.928 P 0.753 P 0.032 N 0.938 D 2.015 M 1.38 T -1.092 T 0.025 T 0.276 1.638 11.44 1.39 0.035 0.345 6.154 1.638295 1.638295 0.12 0.054804 0.011494 NA 0.014 NA 11.1611294 536 1 248309356 248309356 A G exonic OR2M5 NA nonsynonymous SNV OR2M5:NM_001004690:exon1:c.A907G:p.K303E exonic ENSG00000162727 NA nonsynonymous SNV ENSG00000162727:ENST00000366476:exon1:c.A907G:p.K303E NA NA 1q44 NA NA NA NA rs73141283 0.06 0.06 0.054 0.0545128 0.0646 0.0754 0.0187 0.0575 0.044 0.06 0.1 0.02 0.06 0.0555 0.1 0 D 0.011 B 0.023 B . . 1.000 P 2.615 M 1.03 T -1.002 T 0.005 T 0.089 1.897 12.3 2.65 0.948 1.499 8.695 1.896938 1.896938 0 0.05314 0.056287 NA 0.072 NA 11.1600934 537 10 29581493 29581493 A C exonic LYZL1 NA nonsynonymous SNV LYZL1:NM_032517:exon3:c.A323C:p.Q108P exonic ENSG00000120563 NA nonsynonymous SNV ENSG00000120563:ENST00000494304:exon2:c.A128C:p.Q43P,ENSG00000120563:ENST00000375500:exon3:c.A323C:p.Q108P NA NA 10p12.1 NA NA NA NA rs3818551 0.28 0.28 0.206 0.255192 0.2227 0.2748 0.2795 0.2504 0.2577 0.24 0.29 0.31 0.29 0.2423 0.31 0.05 D 0.731 P 0.3 B 0.399 N 0.999 P 1.24 L -0.86 T -1.087 T 0.000 T 0.443 0.669 7.583 4.4 1.937 0.971 10.610 0.669163 NA 0.12 0.213721 0.24512 NA 0.188 NA 11.1546124 537 18 9944960 9944960 A G exonic VAPA NA nonsynonymous SNV VAPA:NM_003574:exon5:c.A457G:p.M153V exonic ENSG00000101558 NA nonsynonymous SNV ENSG00000101558:ENST00000340541:exon5:c.A457G:p.M153V NA NA 18p11.22 NA Name=CEBPB,FOXA2_(SC-6554) Name=6 NA rs29132 0.08 0.08 0.071 0.0840655 0.0527 0.0774 0.1052 0.1263 0.0511 0.06 0.07 0.07 0.15 0.0744 0.15 . . 0.0 B 0.0 B 0.138 N 1.000 P . . 1.59 T -1.093 T 0.000 T 0.013 -0.841 0.572 -11.3 -4.044 -2.575 5.383 -0.840846 NA NA 0.054145 0.128186 NA 0.065 NA 11.1520884 537 20 61459315 61459315 C T exonic COL9A3 NA nonsynonymous SNV COL9A3:NM_001853:exon17:c.C887T:p.P296L exonic ENSG00000092758 NA nonsynonymous SNV ENSG00000092758:ENST00000343916:exon17:c.C887T:p.P296L Score=340;Name=lod=32 NA 20q13.33 Score=830;Name=V$COMP1_01 NA NA NA rs45628843 0.04 0.04 0.038 0.024361 0.0865 NA 0.0461 0.0015 0.001 0.08 NA 0.05 0.0041 0.038 0.08 0.41 T 0.027 B 0.021 B 0.000 U 1.000 D 0.92 L -4.09 D -0.607 T 0.126 T 0.107 0.091 4.489 1.12 0.199 0.161 5.557 0.090672 NA 0.23 0.061279 0.013624 NA 0.029 NA 11.1475544 537 12 39713776 39713776 C A exonic KIF21A NA nonsynonymous SNV KIF21A:NM_001173463:exon26:c.G3651T:p.E1217D,KIF21A:NM_001173465:exon26:c.G3603T:p.E1201D,KIF21A:NM_017641:exon27:c.G3672T:p.E1224D,KIF21A:NM_001173464:exon28:c.G3711T:p.E1237D exonic ENSG00000139116 NA nonsynonymous SNV ENSG00000139116:ENST00000551264:exon7:c.G834T:p.E278D,ENSG00000139116:ENST00000541463:exon26:c.G3603T:p.E1201D,ENSG00000139116:ENST00000544797:exon26:c.G3651T:p.E1217D,ENSG00000139116:ENST00000361961:exon27:c.G3672T:p.E1224D,ENSG00000139116:ENST00000395670:exon27:c.G3711T:p.E1237D,ENSG00000139116:ENST00000361418:exon28:c.G3711T:p.E1237D Score=420;Name=lod=68 NA 12q12 NA NA NA NA rs75223821 0.05 0.05 0.062 0.0549121 0.0596 0.1151 0.0288 0.0053 0.0736 0.06 0.1 0.03 0.01 0.0653 0.1 0.57 T 0.996 D 0.987 D 0.000 D 0.266 P 0.96 L 0.35 T -1.042 T 0.004 T 0.473 1.94 12.45 1.43 0.376 0.500 8.279 1.940324 1.940324 0.22 0.063023 0.009541 NA 0.036 NA 11.1454104 538 19 54759361 54759361 T C exonic LILRB5 NA nonsynonymous SNV LILRB5:NM_001081443:exon4:c.A440G:p.D147G,LILRB5:NM_001081442:exon5:c.A740G:p.D247G,LILRB5:NM_006840:exon5:c.A740G:p.D247G exonic ENSG00000105609 NA nonsynonymous SNV ENSG00000105609:ENST00000345866:exon4:c.A440G:p.D147G,ENSG00000105609:ENST00000316219:exon5:c.A740G:p.D247G,ENSG00000105609:ENST00000449561:exon5:c.A740G:p.D247G,ENSG00000105609:ENST00000450632:exon5:c.A713G:p.D238G NA NA 19q13.42 NA NA Name=2 NA rs12975366 0.27 0.27 0.266 0.270767 0.4344 0.125 0.3213 0.1483 0.3824 0.41 0.08 0.37 0.18 0.3444 0.41 0.02 D 1.0 D 0.991 D 0.878 N 1.000 P 2.405 M 2.57 T -0.960 T 0.000 T 0.208 2.356 13.84 1.52 0.372 0.165 5.559 2.356397 2.356397 0.01 0.410349 0.179301 ID=COSM1396264,COSM1396263;OCCURENCE=1(large_intestine) 0.239 NA 11.1441844 538 13 37583831 37583831 G A exonic SUPT20H NA nonsynonymous SNV SUPT20H:NM_001014286:exon26:c.C2318T:p.T773M exonic ENSG00000102710 NA nonsynonymous SNV ENSG00000102710:ENST00000350612:exon26:c.C2318T:p.T773M Score=590;Name=lod=334 NA 13q13.3 Score=969;Name=V$P53_02 Name=Pol2-4H8 NA NA rs9469 0.42 0.42 0.401 0.413139 0.3787 0.7232 0.4222 0.0809 0.5716 0.39 0.7 0.43 0.11 0.4128 0.7 0.16 T 0.006 B 0.004 B 0.001 N 0.000 P 0.665 N 1.4 T -1.003 T 0.000 T 0.193 0.874 8.546 4.18 0.832 3.130 10.349 0.874397 NA NA 0.398256 0.140263 NA 0.348 NA 11.1435774 538 22 30163526 30163526 A G exonic UQCR10 NA nonsynonymous SNV UQCR10:NM_001003684:exon1:c.A139G:p.I47V,UQCR10:NM_013387:exon1:c.A139G:p.I47V exonic ENSG00000184076 NA nonsynonymous SNV ENSG00000184076:ENST00000330029:exon1:c.A139G:p.I47V,ENSG00000184076:ENST00000401406:exon1:c.A139G:p.I47V Score=433;Name=lod=77 NA 22q12.2 NA Name=TAF7_(SQ-8),YY1_(C-20),Pol2(phosphoS2),NRSF,Pol2,ETS1,TAF1,TBP,NFKB,c-Myc,Pol2-4H8,Sin3Ak-20,Egr-1,YY1,CTCF_(SC-5916) NA NA rs76013375 0.13 0.13 0.13 0.147564 0.0467 0.0853 0.0951 0.3389 0.0941 0.05 0.1 0.08 0.33 0.0932 0.33 0.52 T 0.194 B 0.107 B . . 0.911 P . . 0.96 T -0.966 T 0.000 T 0.117 2.342 13.79 4.63 2.196 0.609 9.248 2.341566 2.341566 0.15 0.051156 0.26206 NA 0.145 NA 11.1422774 538 9 7799653 7799653 G T exonic C9orf123 NA nonsynonymous SNV C9orf123:NM_033428:exon1:c.C82A:p.P28T exonic ENSG00000137038 NA nonsynonymous SNV ENSG00000137038:ENST00000358227:exon1:c.C82A:p.P28T NA NA 9p24.1 NA Name=TAF7_(SQ-8),NRSF,Pol2,Pol2(phosphoS2),TAF1,Pol2-4H8,ELK4,TBP NA NA rs1127430 0.38 0.38 0.32 0.374201 0.3926 0.371 0.5375 0.264 0.3916 0.38 0.34 0.55 0.28 0.4108 0.55 0.01 D 0.879 P 0.488 P 0.042 N 1.000 P 1.935 M 0.66 T -0.903 T 0.000 T 0.09 3.467 17.75 3.45 0.773 -0.242 8.651 3.467238 3.467238 0.03 0.393256 0.277803 NA 0.239 NA 11.1366774 538 7 121653250 121653250 G A exonic PTPRZ1 NA nonsynonymous SNV PTPRZ1:NM_002851:exon12:c.G4150A:p.D1384N exonic ENSG00000106278 NA nonsynonymous SNV ENSG00000106278:ENST00000393386:exon12:c.G4150A:p.D1384N NA NA 7q31.32 Score=924;Name=V$HSF2_01 NA Name=12 NA rs61732005 0.09 0.09 0.083 0.0784744 0.0557 0.2093 0.0447 0.0567 0.0204 0.05 0.2 0.05 0.04 0.0662 0.2 0.11 T 0.001 B 0.001 B 0.648 N 1.000 P 0.92 L 0.9 T -1.072 T 0.000 T 0.008 1.808 12.01 3.29 0.732 3.354 7.981 1.808443 1.808443 0.15 0.075116 0.077621 NA 0.065 NA 11.1363174 539 19 19230816 19230816 T C exonic TMEM161A NA nonsynonymous SNV TMEM161A:NM_001256766:exon10:c.A1054G:p.I352V,TMEM161A:NM_017814:exon12:c.A1363G:p.I455V exonic ENSG00000064545 NA nonsynonymous SNV ENSG00000064545:ENST00000450333:exon10:c.A1054G:p.I352V,ENSG00000064545:ENST00000162044:exon12:c.A1363G:p.I455V,ENSG00000064545:ENST00000587583:exon12:c.A1288G:p.I430V Score=469;Name=lod=107 NA 19p13.11 NA NA NA NA rs45467802 0.15 0.15 0.025 0.0485224 0.0437 0.0446 0.0331 0.0477 0.0695 0.15 0.11 0.1 0.21 0.1087 0.21 0.2 T 0.009 B 0.006 B 0.000 D 0.564 P 0.69 N . . -1.061 T 0.000 T 0.052 1.736 11.76 3.48 0.602 1.729 7.550 1.735741 1.735741 0.35 0.047397 0.052716 NA 0.094 NA 11.1335364 539 1 197070521 197070521 C G exonic ASPM NA nonsynonymous SNV ASPM:NM_018136:exon18:c.G7860C:p.Q2620H exonic ENSG00000066279 NA nonsynonymous SNV ENSG00000066279:ENST00000367409:exon18:c.G7860C:p.Q2620H NA NA 1q31.3 NA NA NA NA rs12138336 0.03 0.03 0.025 0.028754 0.0825 0.001 0.0432 0.0023 0.0276 0.07 0.0017 0.04 0.002 0.0511 0.07 0.27 T 0.064 B 0.152 B 0.257 N 1.000 N 1.05 L -0.6 T -0.989 T 0.022 T 0.116 1.147 9.672 -8.33 -1.375 -1.094 6.539 1.146919 NA 0.12 0.069667 0.013164 NA 0.036 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000020799.1|RCV000123704.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512|. 11.1300664 539 16 84474484 84474484 G A exonic ATP2C2 NA nonsynonymous SNV ATP2C2:NM_014861:exon14:c.G1231A:p.G411S exonic ENSG00000064270 NA nonsynonymous SNV ENSG00000064270:ENST00000262429:exon14:c.G1231A:p.G411S,ENSG00000064270:ENST00000416219:exon14:c.G1231A:p.G411S Score=243;Name=lod=13 NA 16q24.1 NA NA NA NA rs2303853 0.05 0.05 0.035 0.0407348 0.0736 0.0258 0.0764 0.0061 0.044 0.07 0.02 0.09 0.01 0.0607 0.09 0.19 T 0.094 B 0.037 B 0.681 N 0.211 P 0.535 N -0.41 T -1.000 T 0.010 T 0.086 1.006 9.107 4.75 1.403 4.470 13.555 1.005591 NA 0.7 0.070163 0.018601 NA 0.029 NA 11.1288704 540 17 58121453 58121453 G A exonic HEATR6 NA nonsynonymous SNV HEATR6:NM_022070:exon20:c.C3017T:p.S1006L exonic ENSG00000068097 NA nonsynonymous SNV ENSG00000068097:ENST00000585976:exon18:c.C2681T:p.S894L,ENSG00000068097:ENST00000184956:exon20:c.C3017T:p.S1006L NA NA 17q23.1 Score=845;Name=V$ATF_01 NA NA NA rs16943991 0.1 0.1 0.106 0.0954473 0.0716 0.0625 0.0706 0.1967 0.0348 0.07 0.06 0.09 0.18 0.07 0.18 0.2 T 0.071 B 0.026 B 0.038 N 1.000 P 0.93 L 1.56 T -1.054 T 0.000 T 0.096 0.961 8.919 4.19 1.321 4.156 12.914 0.960615 NA 0.25 0.06907 0.169995 NA 0.13 NA 11.1226634 540 2 220421417 220421417 C G exonic OBSL1 NA nonsynonymous SNV OBSL1:NM_001173431:exon13:c.G4095C:p.E1365D,OBSL1:NM_015311:exon13:c.G4095C:p.E1365D exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000265317:exon4:c.G792C:p.E264D,ENSG00000124006:ENST00000265318:exon12:c.G3819C:p.E1273D,ENSG00000124006:ENST00000373876:exon12:c.G3819C:p.E1273D,ENSG00000124006:ENST00000404537:exon13:c.G4095C:p.E1365D,ENSG00000124006:ENST00000603926:exon13:c.G4095C:p.E1365D Score=385;Name=lod=49 NA 2q35 Score=845;Name=V$CREBP1_Q2 NA NA NA rs1983210 0.7 0.7 0.715 0.724641 0.7366 0.7163 0.6873 0.6036 0.911 0.73 0.7 0.7 0.62 0.7461 0.76 0.38 T 0.846 P 0.759 P . . 0.000 P 2.215 M -0.61 T -0.967 T 0.000 T 0.246 1.802 11.98 2.11 0.954 0.902 10.104 1.801775 1.801775 0.03 0.7336 0.637725 ID=COSM442368;OCCURENCE=1(breast) 0.79 NA 11.1170334 541 17 43216472 43216472 A G exonic ACBD4 NA nonsynonymous SNV ACBD4:NM_024722:exon8:c.A734G:p.Q245R,ACBD4:NM_001135705:exon9:c.A734G:p.Q245R,ACBD4:NM_001135706:exon9:c.A772G:p.R258G,ACBD4:NM_001135707:exon9:c.A724G:p.R242G,ACBD4:NM_001135704:exon11:c.A772G:p.R258G exonic ENSG00000181513 NA nonsynonymous SNV ENSG00000181513:ENST00000398322:exon8:c.A734G:p.Q245R,ENSG00000181513:ENST00000321854:exon9:c.A734G:p.Q245R,ENSG00000181513:ENST00000376955:exon9:c.A724G:p.R242G,ENSG00000181513:ENST00000586346:exon9:c.A772G:p.R258G,ENSG00000181513:ENST00000431281:exon11:c.A772G:p.R258G,ENSG00000181513:ENST00000591859:exon11:c.A772G:p.R258G Score=435;Name=lod=78 NA 17q21.31 NA NA NA NA rs16939879 0.09 0.09 0.096 0.0882588 0.0805 0.0159 0.0504 0.205 0.0399 0.08 0.01 0.06 0.23 0.0691 0.23 0.21 T 0.0 B 0.002 B 0.384 N 0.357 P . . 2.19 T -0.990 T 0.000 T 0.088 0.947 8.863 -6.01 -0.950 -0.984 9.755 0.947335 NA 0 0.075101 0.159481 NA 0.101 NA 11.1086324 541 10 55568972 55568972 T G exonic PCDH15 NA unknown UNKNOWN exonic ENSG00000150275 NA nonsynonymous SNV ENSG00000150275:ENST00000395442:exon11:c.A1433C:p.E478A,ENSG00000150275:ENST00000395440:exon12:c.A1640C:p.E547A,ENSG00000150275:ENST00000395446:exon18:c.A2426C:p.E809A,ENSG00000150275:ENST00000395445:exon36:c.A4838C:p.E1613A Score=329;Name=lod=29 NA 10q21.1 NA NA NA NA rs11003863 0.31 0.31 0.28 0.298123 0.1511 0.6796 0.2968 0.087 0.3425 0.16 0.73 0.26 0.1 0.2489 0.73 1 T 0.012 B 0.01 B . . 0.000 P 0.345 N 2.55 T -0.924 T 0.000 T 0.114 2.582 14.59 4.56 2.159 4.736 5.579 2.581923 2.581923 0 0.160525 0.121492 NA 0.232 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037010.1;CLNDSDB=.;CLNDSDBID=. 11.1061417 542 13 113479820 113479820 A G exonic ATP11A NA nonsynonymous SNV ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V exonic ENSG00000068650 NA nonsynonymous SNV ENSG00000068650:ENST00000283558:exon11:c.A949G:p.M317V,ENSG00000068650:ENST00000375630:exon11:c.A949G:p.M317V,ENSG00000068650:ENST00000375645:exon11:c.A949G:p.M317V,ENSG00000068650:ENST00000487903:exon11:c.A949G:p.M317V Score=479;Name=lod=118 NA 13q34 Score=694;Name=V$PPARG_02 NA NA NA rs368865 0.85 0.85 0.841 0.842252 0.7445 0.8661 0.8473 0.9894 0.7157 0.74 0.86 0.84 0.99 0.7648 0.99 0.68 T 0.0 B 0.0 B 0.001 N 1.000 P -2.155 N -2.43 D -0.945 T 0.000 T 0.299 -0.672 1.065 5.14 1.176 3.156 10.121 -0.671815 NA 1 0.723605 0.944848 ID=COSM147717;OCCURENCE=1(stomach) 0.877 NA 11.1004284 542 22 26830285 26830285 A G exonic ASPHD2 NA nonsynonymous SNV ASPHD2:NM_020437:exon2:c.A704G:p.N235S exonic ENSG00000128203 NA nonsynonymous SNV ENSG00000128203:ENST00000215906:exon2:c.A704G:p.N235S Score=651;Name=lod=589 NA 22q12.1 Score=741;Name=V$PPARA_01 NA NA NA rs34902186 0.04 0.04 0.032 0.0263578 0.0795 NA 0.049 0.0045 0.0123 0.09 NA 0.04 0.01 0.0614 0.094 0.78 T 0.006 B 0.019 B 0.000 N 0.000 P 1.04 L 1.0 T -1.049 T 0.003 T 0.017 1.619 11.37 3.49 0.656 4.499 8.031 1.618941 1.618941 0.21 0.094302 0.014753 NA 0.043 NA 11.0981314 542 2 231036860 231036860 C T exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon16:c.G1737A:p.M579I,SP110:NM_080424:exon16:c.G1737A:p.M579I exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000258381:exon16:c.G1737A:p.M579I,ENSG00000135899:ENST00000358662:exon16:c.G1737A:p.M579I Score=309;Name=lod=24 NA 2q37.1 NA NA NA NA rs3948463 0.05 0.05 0.038 0.0395367 0.0924 0.001 0.0476 0.0076 0.0624 0.09 0.0017 0.06 0.01 0.0606 0.09 0.46 T 0.046 B 0.008 B . . 1.000 D -0.225 N -2.18 D -1.040 T 0.019 T 0.095 0.054 4.293 2.68 0.812 -0.052 7.669 0.053612 NA 0.19 0.082558 0.016795 NA 0.072 NA 11.0977754 542 19 48244401 48244401 G A exonic EHD2 NA synonymous SNV EHD2:NM_014601:exon6:c.G1344A:p.K448K exonic ENSG00000024422 NA synonymous SNV ENSG00000024422:ENST00000538399:exon5:c.G936A:p.K312K,ENSG00000024422:ENST00000263277:exon6:c.G1344A:p.K448K Score=541;Name=lod=210 NA 19q13.33 Score=904;Name=V$AP1_Q4 NA NA NA rs35910701 0.1 0.1 0.091 0.0914537 0.2187 0.006 0.1052 0.0416 0.1063 0.21 0.01 0.12 0.04 0.1547 0.21 0.29 T . . . . . . 0.000 P . . . . -1.106 T 0.000 T . 1.223 9.962 4.13 2.024 2.995 14.267 1.223109 NA 0.14 0.195698 0.070813 NA 0.051 NA 11.0975686 542 4 177082069 177082069 G C exonic WDR17 NA nonsynonymous SNV WDR17:NM_181265:exon20:c.G2666C:p.C889S,WDR17:NM_170710:exon21:c.G2738C:p.C913S exonic ENSG00000150627 NA nonsynonymous SNV ENSG00000150627:ENST00000393643:exon20:c.G2666C:p.C889S,ENSG00000150627:ENST00000507824:exon20:c.G2687C:p.C896S,ENSG00000150627:ENST00000508596:exon20:c.G2666C:p.C889S,ENSG00000150627:ENST00000280190:exon21:c.G2738C:p.C913S Score=482;Name=lod=121 NA 4q34.2 NA NA NA NA rs7693453 0.18 0.18 0.173 0.192093 0.2545 0.1677 0.1354 0.1422 0.2607 0.25 0.15 0.16 0.12 0.2218 0.26 0.53 T 0.727 P 0.165 B 0.000 D 0.000 P 1.845 L 0.52 T -1.099 T 0.000 T 0.374 0.497 6.694 2.79 0.619 4.116 13.571 0.496597 NA 0.74 0.26 0.163414 NA 0.116 NA 11.0970334 542 2 238990388 238990388 G A exonic SCLY NA nonsynonymous SNV SCLY:NM_016510:exon5:c.G547A:p.A183T exonic ENSG00000132330 NA nonsynonymous SNV ENSG00000132330:ENST00000450965:exon1:c.G13A:p.A5T,ENSG00000132330:ENST00000413463:exon3:c.G265A:p.A89T,ENSG00000132330:ENST00000422984:exon3:c.G241A:p.A81T,ENSG00000132330:ENST00000254663:exon5:c.G547A:p.A183T,ENSG00000132330:ENST00000409736:exon5:c.G523A:p.A175T,ENSG00000132330:ENST00000555827:exon5:c.G523A:p.A175T,ENSG00000132330:ENST00000373332:exon6:c.G277A:p.A93T NA NA 2q37.3 NA NA NA NA rs3210400 0.3 0.3 0.25 0.253994 0.4563 0.2321 0.438 0.0393 0.228 0.46 0.21 0.43 0.04 0.3571 0.46 0 D 0.775 P 0.593 P 0.075 N 0.004 P 1.355 L 1.98 T -0.877 T 0.000 T 0.404 2.296 13.64 4.96 1.464 4.874 10.015 2.296062 2.296062 0.02 0.423488 0.09419 NA 0.319 NA 11.0964454 542 2 69659126 69659126 A T exonic NFU1 NA nonsynonymous SNV NFU1:NM_001002755:exon2:c.T74A:p.M25K,NFU1:NM_015700:exon2:c.T2A:p.M1K exonic ENSG00000169599 NA nonsynonymous SNV ENSG00000169599:ENST00000303698:exon2:c.T2A:p.M1K,ENSG00000169599:ENST00000410022:exon2:c.T74A:p.M25K,ENSG00000169599:ENST00000419370:exon2:c.T2A:p.M1K,ENSG00000169599:ENST00000438184:exon2:c.T2A:p.M1K NA NA 2p13.3 Score=910;Name=V$MEIS1_01 NA NA NA rs4453725 0.31 0.31 0.301 0.317093 0.4185 0.2103 0.3818 0.2526 0.364 0.42 0.19 0.38 0.23 0.3928 0.43 0.01 D 0.039 B 0.019 B 0.865 N 0.000 P 0.345 N 0.01 T -0.987 T 0.000 T 0.275 -0.031 3.853 3.94 1.066 0.978 6.884 -0.031371 NA 0 0.42686 0.2803 ID=COSM1130747;OCCURENCE=1(prostate) 0.399 NA 11.0951734 543 1 150280550 150280550 G A exonic MRPS21 NA nonsynonymous SNV MRPS21:NM_018997:exon2:c.G152A:p.R51Q,MRPS21:NM_031901:exon3:c.G152A:p.R51Q exonic ENSG00000187145 NA nonsynonymous SNV ENSG00000187145:ENST00000369084:exon2:c.G152A:p.R51Q,ENSG00000187145:ENST00000309092:exon3:c.G152A:p.R51Q Score=556;Name=lod=243 NA 1q21.2 NA NA NA NA rs4845 0.09 0.09 0.093 0.0878594 0.0706 0.001 0.0519 0.2337 0.0235 0.08 0.0017 0.04 0.25 0.0824 0.25 0.79 T 0.011 B 0.012 B . . 0.998 P . . 1.46 T -1.020 T 0.015 T 0.197 1.682 11.58 4.94 2.572 1.483 9.104 1.681805 1.681805 0.52 0.089186 0.191784 NA 0.101 NA 11.0911474 543 1 167865871 167865871 G A exonic ADCY10 NA nonsynonymous SNV ADCY10:NM_001167749:exon4:c.C242T:p.T81M,ADCY10:NM_018417:exon7:c.C701T:p.T234M exonic ENSG00000143199 NA nonsynonymous SNV ENSG00000143199:ENST00000545172:exon4:c.C242T:p.T81M,ENSG00000143199:ENST00000367848:exon7:c.C425T:p.T142M,ENSG00000143199:ENST00000367851:exon7:c.C701T:p.T234M Score=389;Name=lod=51 NA 1q24.2 NA NA NA NA rs16859886 0.08 0.08 0.084 0.0758786 0.0905 NA 0.0735 0.1664 0.0184 0.08 NA 0.08 0.16 0.0719 0.16 0.22 T 0.0 B 0.0 B 0.001 N 1.000 P -0.895 N 1.58 T -1.010 T 0.011 T 0.185 -1.274 0.044 5.32 0.959 2.046 8.373 -1.274499 NA 0.83 0.080116 0.153427 NA 0.08 NA 11.0908174 543 22 42538508 42538508 A G ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN NA NA 22q13.2 NA NA NA NA rs3021082 0.36 0.36 0.064 0.38778 0.2942 0.5694 0.2277 0.4887 0.274 0.27 0.51 0.3 0.4 0.45 0.51 0 D 0.982 D 0.958 D 0.081 N 1.000 P . . . . -0.905 T 0.000 T . 0.165 4.886 3.82 1.730 3.001 9.209 0.164755 NA 0 NA NA NA NA NA 11.0891333 543 15 90347814 90347814 G A exonic ANPEP NA nonsynonymous SNV ANPEP:NM_001150:exon5:c.C932T:p.A311V exonic ENSG00000166825 NA nonsynonymous SNV ENSG00000166825:ENST00000300060:exon5:c.C932T:p.A311V NA NA 15q26.1 Score=777;Name=V$MYOGNF1_01 NA NA NA rs17240268 0.08 0.08 0.079 0.071885 0.0924 0.002 0.0576 0.1362 0.046 0.09 0.0035 0.06 0.16 0.0722 0.16 0.27 T 0.907 P 0.509 P 0.056 N 1.000 P 2.605 M 4.1 T -0.990 T 0.000 T 0.024 2.777 15.25 -2.78 -0.056 -0.465 8.837 2.77699 2.77699 0.22 0.081065 0.136818 NA 0.145 NA 11.0876684 544 19 33605312 33605312 T C exonic GPATCH1 NA nonsynonymous SNV GPATCH1:NM_018025:exon15:c.T2183C:p.L728S exonic ENSG00000076650 NA nonsynonymous SNV ENSG00000076650:ENST00000170564:exon15:c.T2183C:p.L728S NA NA 19q13.11 NA Name=PRDM1_(Val90),JunD Name=7 NA rs10421769 0.7 0.7 0.72 0.770168 0.3489 0.9901 0.7017 0.9697 0.7556 0.35 0.99 0.62 0.97 0.5403 0.99 0.75 T 0.001 B 0.0 B 0.334 N 1.000 P -1.39 N 2.25 T -0.980 T 0.000 T 0.018 -0.074 3.637 5.32 1.248 2.751 11.675 -0.074302 NA 0.26 0.362907 0.874035 NA 0.601 NA 11.0812264 544 22 42610099 42610099 T C exonic TCF20 NA nonsynonymous SNV TCF20:NM_005650:exon1:c.A1213G:p.M405V,TCF20:NM_181492:exon1:c.A1213G:p.M405V exonic ENSG00000100207 NA nonsynonymous SNV ENSG00000100207:ENST00000335626:exon1:c.A1213G:p.M405V,ENSG00000100207:ENST00000359486:exon1:c.A1213G:p.M405V Score=625;Name=lod=463 NA 22q13.2 NA NA NA NA rs34030679 0.07 0.07 0.077 0.0860623 0.0815 0.0308 0.062 0.1324 0.1022 0.07 0.02 0.07 0.14 0.0796 0.14 1 T 0.0 B 0.0 B 0.000 N 0.000 P 1.245 L 1.53 T -1.028 T 0.000 T 0.112 -1.837 0.009 3.74 1.084 1.197 5.668 -1.837371 NA 1 0.091628 0.137767 NA 0.094 NA 11.0806054 544 10 129906980 129906980 C T exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.G2044A:p.G682S,MKI67:NM_002417:exon13:c.G3124A:p.G1042S exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.G2044A:p.G682S,ENSG00000148773:ENST00000368654:exon13:c.G3124A:p.G1042S NA NA 10q26.2 NA NA NA NA rs2152143 0.21 0.21 0.201 0.190495 0.2704 0.1181 0.3156 0.1172 0.1933 0.27 0.15 0.33 0.1 0.239 0.33 0.73 T 0.975 D 0.561 P . . 1.000 P 0.97 L 4.5 T -1.018 T 0.000 T 0.031 1.117 9.554 -4.11 -1.001 -1.344 8.078 1.116707 NA 0.8 0.247442 0.130731 ID=COSM146357;OCCURENCE=1(stomach) 0.152 NA 11.0764914 545 3 167023738 167023738 G C exonic ZBBX NA nonsynonymous SNV ZBBX:NM_001199201:exon17:c.C1418G:p.A473G,ZBBX:NM_001199202:exon17:c.C1331G:p.A444G,ZBBX:NM_024687:exon17:c.C1418G:p.A473G exonic ENSG00000169064 NA nonsynonymous SNV ENSG00000169064:ENST00000307529:exon14:c.C1418G:p.A473G,ENSG00000169064:ENST00000392767:exon14:c.C1418G:p.A473G,ENSG00000169064:ENST00000455345:exon16:c.C1418G:p.A473G,ENSG00000169064:ENST00000392764:exon17:c.C1331G:p.A444G,ENSG00000169064:ENST00000392766:exon17:c.C1418G:p.A473G Score=251;Name=lod=14 NA 3q26.1 NA NA NA NA rs13096767 0.33 0.33 0.326 0.334665 0.4195 0.1835 0.353 0.3548 0.363 0.41 0.18 0.37 0.37 0.4167 0.42 0.2 T 0.999 D 0.994 D 0.037 N 0.975 P 1.32 L 2.96 T -0.839 T 0.000 T 0.138 0.867 8.513 4.76 2.332 0.607 13.640 0.866911 NA 0.16 0.424982 0.375763 ID=COSM149508,COSM149509;OCCURENCE=1(stomach) 0.457 NA 11.0721514 545 10 29578084 29578084 A G exonic LYZL1 NA nonsynonymous SNV LYZL1:NM_032517:exon1:c.A38G:p.K13R exonic ENSG00000120563 NA nonsynonymous SNV ENSG00000120563:ENST00000375500:exon1:c.A38G:p.K13R Score=317;Name=lod=26 NA 10p12.1 NA NA NA NA rs2532753 0.65 0.65 0.612 0.676917 0.6153 0.7897 0.7421 0.6006 0.681 0.6 0.8 0.64 0.58 0.6467 0.8 0.4 T 0.877 P 0.461 P 0.000 N 0.992 P . . -0.36 T -0.957 T 0.000 T 0.136 1.983 12.59 4.04 2.058 2.028 9.661 1.982645 1.982645 0.5 NA NA NA 0.514 NA 11.0713334 545 8 31024654 31024654 T C exonic WRN NA nonsynonymous SNV WRN:NM_000553:exon34:c.T4099C:p.C1367R exonic ENSG00000165392 NA nonsynonymous SNV ENSG00000165392:ENST00000298139:exon34:c.T4099C:p.C1367R NA NA 8p12 Score=866;Name=V$OCT1_06 NA NA NA rs1346044 0.18 0.18 0.172 0.192692 0.2664 0.1042 0.1729 0.1475 0.2832 0.26 0.1 0.18 0.16 0.2416 0.26 0.1 T 0.744 P 0.289 B 0.365 N 0.055 P 2.14 M 0.93 T -1.067 T 0.000 T 0.107 0.767 8.055 2.45 0.406 0.579 5.606 0.766747 NA 0.02 0.255814 0.171811 NA 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118880.3;CLNDSDB=.;CLNDSDBID=. 11.0695194 545 6 126661502 126661502 G T exonic CENPW NA nonsynonymous SNV CENPW:NM_001012507:exon1:c.G83T:p.R28L exonic ENSG00000203760 NA nonsynonymous SNV ENSG00000203760:ENST00000368325:exon1:c.G83T:p.R28L,ENSG00000203760:ENST00000368326:exon1:c.G83T:p.R28L,ENSG00000203760:ENST00000368328:exon1:c.G83T:p.R28L NA NA 6q22.32 NA Name=HA-E2F1,Pol2-4H8,Pol2,GATA-1,Pol2(b),SETDB1 Name=148 NA rs41285260 0.05 0.05 0.059 0.0515176 0.1093 NA 0.0735 0.025 0.0654 0.1 NA 0.08 0.02 0.0679 0.1 0.01 D 0.001 B 0.008 B 0.744 N 1.000 N . . 1.94 T -0.929 T 0.012 T 0.132 2.688 14.95 -2.24 -0.711 -0.203 3.739 2.687974 2.687974 0 0.088605 0.032229 NA 0.058 NA 11.0675284 546 22 35481493 35481493 C T exonic ISX NA nonsynonymous SNV ISX:NM_001008494:exon4:c.C545T:p.T182M exonic ENSG00000175329 NA nonsynonymous SNV ENSG00000175329:ENST00000308700:exon4:c.C545T:p.T182M,ENSG00000175329:ENST00000404699:exon5:c.C545T:p.T182M NA NA 22q12.3 NA NA NA NA rs61735502 0.05 0.05 0.049 0.0654952 0.0994 0.0129 0.049 0.0507 0.1166 0.1 0.01 0.05 0.03 0.0806 0.1 0.23 T 0.007 B 0.003 B 0.865 N 1.000 P 0.83 L -2.67 D -0.903 T 0.027 T 0.058 1.485 10.91 -9.08 -1.704 -1.783 9.362 1.484734 1.484734 0.02 0.09314 0.059464 NA 0.065 NA 11.0601934 546 9 136555629 136555629 T C exonic SARDH NA nonsynonymous SNV SARDH:NM_001134707:exon16:c.A1942G:p.M648V,SARDH:NM_007101:exon16:c.A1942G:p.M648V exonic ENSG00000123453 NA nonsynonymous SNV ENSG00000123453:ENST00000371868:exon4:c.A226G:p.M76V,ENSG00000123453:ENST00000422262:exon15:c.A1438G:p.M480V,ENSG00000123453:ENST00000371872:exon16:c.A1942G:p.M648V,ENSG00000123453:ENST00000439388:exon16:c.A1942G:p.M648V Score=343;Name=lod=33 NA 9q34.2 NA Name=CTCF NA NA rs886016 0.53 0.53 0.546 0.554513 0.4394 0.4444 0.4914 0.8404 0.4448 0.45 0.44 0.48 0.82 0.4415 0.82 0.65 T 0.0 B 0.0 B 0.000 N 0.000 P -2.285 N -0.59 T -0.951 T 0.000 T 0.073 -0.731 0.874 5.02 1.114 2.882 8.554 -0.731017 NA 1 0.393488 0.759646 NA 0.514 NA 11.0589454 547 6 38773293 38773293 G A exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon23:c.G3071A:p.G1024E exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon19:c.G2420A:p.G807E,ENSG00000124721:ENST00000359357:exon21:c.G2420A:p.G807E,ENSG00000124721:ENST00000327475:exon22:c.G3035A:p.G1012E,ENSG00000124721:ENST00000449981:exon23:c.G3071A:p.G1024E Score=251;Name=lod=14 NA 6p21.2 Score=754;Name=V$MYOGNF1_01 NA NA NA rs874808 0.48 0.48 0.447 0.47504 0.3817 0.6994 0.5821 0.3245 0.4673 0.39 0.69 0.55 0.33 0.4585 0.69 1 T 0.0 B 0.0 B 0.088 N 1.000 P 0.69 N 1.96 T -0.979 T 0.011 T 0.045 -0.46 1.874 4.22 1.018 2.661 7.081 -0.459527 NA 1 0.43814 0.338629 NA 0.543 NA 11.0549934 547 7 141673345 141673345 C G exonic TAS2R38 NA nonsynonymous SNV TAS2R38:NM_176817:exon1:c.G145C:p.A49P exonic ENSG00000257138 NA nonsynonymous SNV ENSG00000257138:ENST00000547270:exon1:c.G145C:p.A49P NA Name=Bitter taste response 7q34 NA NA NA NA rs713598 0.53 0.53 0.483 0.504792 0.4225 0.6756 0.6585 0.475 0.3446 0.42 0.65 0.61 0.51 0.4459 0.65 0.38 T 0.001 B 0.005 B 0.005 N 0.945 P -2.08 N 5.72 T -1.116 T 0.000 T 0.165 -0.698 0.978 5.1 1.402 2.468 11.663 -0.697866 NA 1 0.410465 0.469814 NA 0.442 CLINSIG=drug-response;CLNDBN=Phenylthiocarbamide_tasting;CLNREVSTAT=single;CLNACC=RCV000003038.1;CLNDSDB=MedGen;CLNDSDBID=C1868398 11.0544684 547 4 2951804 2951804 A G exonic NOP14 NA nonsynonymous SNV NOP14:NM_003703:exon8:c.T1139C:p.L380S exonic ENSG00000087269 NA nonsynonymous SNV ENSG00000087269:ENST00000314262:exon8:c.T1139C:p.L380S,ENSG00000087269:ENST00000398071:exon8:c.T1139C:p.L380S,ENSG00000087269:ENST00000416614:exon8:c.T1139C:p.L380S,ENSG00000087269:ENST00000502735:exon8:c.T1139C:p.L380S Score=340;Name=lod=32 NA 4p16.3 NA NA NA NA rs2515960 0.42 0.42 0.41 0.407548 0.4433 0.1915 0.415 0.6815 0.2178 0.44 0.18 0.42 0.67 0.4067 0.67 0 D 0.0 B 0.0 B 0.002 N 0.988 P -2.66 N 1.61 T -0.971 T 0.000 T 0.11 -0.249 2.803 5.43 1.309 3.876 13.176 -0.248704 NA 1 0.429535 0.626645 NA 0.341 NA 11.0537984 547 21 47558552 47558552 G A exonic FTCD NA nonsynonymous SNV FTCD:NM_006657:exon12:c.C1313T:p.A438V,FTCD:NM_206965:exon12:c.C1313T:p.A438V exonic ENSG00000160282 NA nonsynonymous SNV ENSG00000160282:ENST00000291670:exon12:c.C1313T:p.A438V,ENSG00000160282:ENST00000359679:exon12:c.C1313T:p.A438V,ENSG00000160282:ENST00000397746:exon12:c.C1313T:p.A438V,ENSG00000160282:ENST00000397748:exon12:c.C1313T:p.A438V NA NA 21q22.3 NA NA NA NA rs61735841 0.04 0.04 0.043 0.0289537 0.0954 0.0069 0.0331 0.0068 0.0102 0.09 0.01 0.04 0.01 0.0826 0.1 0.17 T 0.281 B 0.067 B 0.023 N 1.000 D 1.735 L 0.83 T -1.152 T 0.004 T 0.142 1.998 12.64 3.47 0.913 1.492 9.687 1.998345 1.998345 0.2 0.101721 0.021719 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081447.1;CLNDSDB=.;CLNDSDBID=. 11.0536124 547 14 93398031 93398031 G C exonic CHGA NA nonsynonymous SNV CHGA:NM_001275:exon6:c.G792C:p.E264D exonic ENSG00000100604 NA nonsynonymous SNV ENSG00000100604:ENST00000216492:exon6:c.G792C:p.E264D NA NA 14q32.12 NA NA NA NA rs9658655 0.15 0.15 0.149 0.183506 0.0736 0.2391 0.1859 0.2171 0.1922 0.07 0.21 0.17 0.22 0.1277 0.24 0.25 T 0.872 P 0.535 P 0.132 N 0.000 P 2.175 M 4.68 T -0.763 T 0.000 T 0.052 3.15 16.53 3.98 1.940 0.676 13.148 3.149949 3.149949 0.28 0.083605 0.179528 NA 0.174 NA 11.0484284 547 8 52325767 52325767 T G exonic PXDNL NA nonsynonymous SNV PXDNL:NM_144651:exon15:c.A1847C:p.D616A exonic ENSG00000147485 NA nonsynonymous SNV ENSG00000147485:ENST00000356297:exon15:c.A1847C:p.D616A,ENSG00000147485:ENST00000543296:exon15:c.A1847C:p.D616A Score=471;Name=lod=109 NA 8q11.22 NA NA NA NA rs16916207 0.16 0.16 0.164 0.158746 0.0865 0.2768 0.0793 0.1921 0.1227 0.09 0.27 0.08 0.19 0.1113 0.27 0.01 D 0.129 B 0.046 B . . 0.995 P 1.39 L -0.06 T -1.083 T 0.000 T 0.279 1.558 11.16 3.61 0.674 4.320 8.613 1.557645 1.557645 0.01 0.087188 0.181842 NA 0.116 NA 11.0483454 548 6 29912856 29912856 A T exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon6:c.A1033T:p.T345S,HLA-A:NM_002116:exon6:c.A1033T:p.T345S exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376806:exon6:c.A1051T:p.T351S,ENSG00000206503:ENST00000376809:exon6:c.A1033T:p.T345S,ENSG00000206503:ENST00000396634:exon8:c.A1033T:p.T345S NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs2231119 NA NA 0.522 0.686502 0.6342 0.6885 0.7752 0.73 0.6166 NA NA NA NA 0.6563 0.62 0 D 0.0 B 0.001 B 0.002 N 1.000 P . . 4.97 T -0.921 T 0.001 T 0.451 0.595 7.208 -6.63 -1.927 -3.514 3.845 0.594792 NA 1 NA NA ID=COSM1621366;OCCURENCE=1(liver) 0.529 NA 11.0428334 548 8 10467124 10467124 G C exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.C4484G:p.P1495R exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C4484G:p.P1495R NA NA 8p23.1 NA NA NA NA rs4841399 0.29 0.29 0.259 0.281749 0.2555 0.3938 0.353 0.2511 0.184 0.26 0.42 0.3 0.2 0.2945 0.42 0.05 D 0.851 P 0.314 B 0.066 N 1.000 P 0.345 N 3.69 T -0.970 T 0.000 T 0.051 1.055 9.308 -5.06 -1.450 -1.416 1.985 1.054817 NA 0.03 0.241035 0.25 ID=COSM453785;OCCURENCE=1(breast) 0.217 NA 11.0422984 548 5 178415937 178415937 A G exonic GRM6 NA synonymous SNV GRM6:NM_000843:exon6:c.T1353C:p.N451N exonic ENSG00000113262 NA synonymous SNV ENSG00000113262:ENST00000231188:exon6:c.T1353C:p.N451N,ENSG00000113262:ENST00000517717:exon7:c.T1353C:p.N451N Score=463;Name=lod=102 NA 5q35.3 Score=763;Name=V$PAX6_01 NA NA NA rs2067011 0.53 0.53 0.483 0.506989 0.5547 0.5913 0.5317 0.388 0.5143 0.55 0.59 0.5 0.45 0.5328 0.59 0 D . . . . . . 0.000 P . . . . -0.922 T 0.000 T . 1.769 11.88 -4.44 -0.676 -1.561 15.244 1.769401 1.769401 0 0.537791 0.409896 NA 0.551 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086024.1;CLNDSDB=.;CLNDSDBID=. 11.0413756 548 4 3215835 3215835 T C exonic HTT NA nonsynonymous SNV HTT:NM_002111:exon50:c.T6925C:p.Y2309H exonic ENSG00000197386 NA nonsynonymous SNV ENSG00000197386:ENST00000355072:exon50:c.T6925C:p.Y2309H Score=472;Name=lod=110 NA 4p16.3 Score=753;Name=V$TCF11MAFG_01 NA NA NA rs362331 0.46 0.46 0.427 0.441294 0.4334 0.3859 0.4294 0.5862 0.319 0.44 0.38 0.44 0.57 0.4386 0.57 0.58 T 0.0 B 0.0 B 0.000 N 0.999 P -1.355 N 3.59 T -1.024 T 0.000 T 0.275 1.119 9.562 5.7 1.427 3.175 8.214 1.118641 NA 0.93 0.420295 0.565019 ID=COSM447793;OCCURENCE=1(breast) 0.536 NA 11.0410384 548 7 82453708 82453708 A C exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon19:c.T14440G:p.S4814A,PCLO:NM_033026:exon19:c.T14440G:p.S4814A exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon19:c.T14440G:p.S4814A,ENSG00000186472:ENST00000423517:exon19:c.T14440G:p.S4814A Score=513;Name=lod=162 NA 7q21.11 NA NA NA NA rs2522833 0.42 0.42 0.41 0.402556 0.4324 0.6865 0.4164 0.0424 0.5562 0.45 0.7 0.41 0.07 0.4431 0.7 0 D 0.013 B 0.118 B . . 0.000 P -0.145 N 1.01 T -0.971 T 0.000 T 0.137 2.174 13.22 5.72 2.179 5.108 15.993 2.173542 2.173542 1 0.419207 0.102551 NA 0.297 NA 11.0386264 548 6 26108168 26108168 G A exonic HIST1H1T NA nonsynonymous SNV HIST1H1T:NM_005323:exon1:c.C154T:p.L52F exonic ENSG00000187475 NA nonsynonymous SNV ENSG00000187475:ENST00000338379:exon1:c.C154T:p.L52F NA NA 6p22.2 NA NA NA NA rs2051542 0.24 0.24 0.213 0.217053 0.0865 0.5506 0.2133 0.0734 0.2045 0.1 0.62 0.15 0.09 0.1469 0.62 0 D 0.997 D 0.968 D 0.034 N 1.000 P 2.14 M 1.5 T -0.991 T 0.092 T 0.132 3.183 16.65 0.107 0.088 0.451 8.973 3.183196 3.183196 0 0.062674 0.089877 NA 0.116 NA 11.0372594 548 5 180057293 180057293 T C exonic FLT4 NA nonsynonymous SNV FLT4:NM_002020:exon4:c.A445G:p.N149D,FLT4:NM_182925:exon4:c.A445G:p.N149D exonic ENSG00000037280 NA nonsynonymous SNV ENSG00000037280:ENST00000261937:exon4:c.A445G:p.N149D,ENSG00000037280:ENST00000393347:exon4:c.A445G:p.N149D,ENSG00000037280:ENST00000502649:exon4:c.A445G:p.N149D Score=536;Name=lod=202 NA 5q35.3 Score=869;Name=V$ELK1_02 NA NA NA rs34221241 0.05 0.05 0.053 0.0389377 0.1243 0.001 0.0331 0.0045 0.0409 0.13 0.0017 0.04 0.01 0.0751 0.13 0.55 T 0.012 B 0.005 B . . 0.473 P 1.1 L 1.12 T -1.043 T 0.001 T 0.007 1.061 9.334 2.96 0.440 1.625 3.930 1.061203 NA 0.17 0.097465 0.021818 NA 0.014 NA 11.0364684 548 10 121436286 121436286 C T exonic BAG3 NA nonsynonymous SNV BAG3:NM_004281:exon4:c.C1220T:p.P407L exonic ENSG00000151929 NA nonsynonymous SNV ENSG00000151929:ENST00000369085:exon4:c.C1220T:p.P407L NA NA 10q26.11 NA NA NA NA rs3858340 0.16 0.16 0.136 0.155551 0.0964 0.253 0.1744 0.1664 0.0879 0.09 0.24 0.13 0.16 0.1141 0.24 0.06 T 0.191 B 0.1 B 0.279 N 0.226 P 0.895 L -0.21 T -1.093 T 0.000 T 0.068 2.558 14.51 5.73 2.861 4.449 20.260 2.558206 2.558206 0.03 0.087674 0.170449 NA 0.145 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000037885.2|RCV000123816.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.0351594 549 17 57963537 57963537 A G exonic TUBD1 NA nonsynonymous SNV TUBD1:NM_001193609:exon3:c.T227C:p.M76T,TUBD1:NM_001193610:exon3:c.T227C:p.M76T,TUBD1:NM_001193611:exon3:c.T227C:p.M76T,TUBD1:NM_016261:exon3:c.T227C:p.M76T exonic ENSG00000108423 NA nonsynonymous SNV ENSG00000108423:ENST00000376094:exon2:c.T227C:p.M76T,ENSG00000108423:ENST00000590498:exon2:c.T26C:p.M9T,ENSG00000108423:ENST00000592426:exon2:c.T227C:p.M76T,ENSG00000108423:ENST00000593110:exon2:c.T26C:p.M9T,ENSG00000108423:ENST00000325752:exon3:c.T227C:p.M76T,ENSG00000108423:ENST00000340993:exon3:c.T227C:p.M76T,ENSG00000108423:ENST00000394239:exon3:c.T227C:p.M76T,ENSG00000108423:ENST00000591548:exon3:c.T227C:p.M76T Score=591;Name=lod=335 Name=Inflammatory bowel disease 17q23.1 Score=895;Name=V$PBX1_02 NA NA NA rs1292053 0.49 0.49 0.503 0.48123 0.4175 0.5754 0.4597 0.5204 0.4121 0.42 0.6 0.44 0.53 0.4462 0.6 0.65 T 0.0 B 0.0 B 0.000 N 0.000 P -1.095 N -0.47 T -0.926 T 0.000 T 0.082 -0.355 2.326 4.1 0.476 4.164 11.301 -0.354555 NA 1 0.436163 0.481843 ID=COSM148311;OCCURENCE=1(stomach) 0.507 NA 11.0334704 549 11 17035718 17035718 A G exonic PLEKHA7 NA synonymous SNV PLEKHA7:NM_175058:exon2:c.T117C:p.H39H exonic ENSG00000166689 NA nonsynonymous SNV ENSG00000166689:ENST00000532079:exon2:c.T53C:p.I18T Score=599;Name=lod=362 NA 11p15.1 NA Name=USF-1,USF2 Name=12 NA rs61881311 0.72 0.72 0.682 0.707867 0.6143 0.9653 0.7334 0.5408 0.7464 0.61 0.97 0.71 0.59 0.6942 0.97 0 D . . . . . . 0.000 P . . . . -1.061 T 0.000 T . 0.886 8.595 3.15 0.316 1.878 8.259 0.8856 NA NA 0.660025 0.5684 NA NA NA 11.031475 549 8 52321686 52321686 C T exonic PXDNL NA nonsynonymous SNV PXDNL:NM_144651:exon17:c.G2498A:p.S833N exonic ENSG00000147485 NA nonsynonymous SNV ENSG00000147485:ENST00000522628:exon1:c.G296A:p.S99N,ENSG00000147485:ENST00000356297:exon17:c.G2498A:p.S833N,ENSG00000147485:ENST00000543296:exon17:c.G2498A:p.S833N Score=295;Name=lod=21 NA 8q11.22 NA NA NA NA rs11985241 0.15 0.15 0.14 0.153954 0.0905 0.2768 0.0778 0.1725 0.1217 0.09 0.27 0.08 0.17 0.1283 0.27 0.16 T 0.118 B 0.048 B 0.000 D 0.970 P 1.03 L -0.71 T -1.080 T 0.000 T 0.016 0.084 4.452 2.63 0.553 5.229 9.853 0.083708 NA 0.08 0.086186 0.161841 NA 0.087 NA 11.0283474 549 2 20189015 20189015 T C exonic WDR35 NA nonsynonymous SNV WDR35:NM_001006657:exon2:c.A53G:p.Q18R,WDR35:NM_020779:exon2:c.A53G:p.Q18R exonic ENSG00000118965 NA nonsynonymous SNV ENSG00000118965:ENST00000281405:exon2:c.A53G:p.Q18R,ENSG00000118965:ENST00000345530:exon2:c.A53G:p.Q18R,ENSG00000118965:ENST00000414212:exon2:c.A53G:p.Q18R Score=652;Name=lod=597 NA 2p24.1 NA NA NA NA rs1060742 0.1 0.1 0.087 0.11861 0.1123 0.1736 0.1196 0.0038 0.2229 0.11 0.17 0.12 0.01 0.1065 0.17 0.57 T 0.0 B 0.0 B 0.000 N 0.000 P -1.845 N 1.61 T -1.030 T 0.000 T 0.037 1.705 11.66 5.31 2.232 2.239 9.392 1.704882 1.704882 0.75 0.08814 0.021108 ID=COSM148806;OCCURENCE=1(stomach) 0.08 NA 11.0263934 550 19 17316782 17316782 T C exonic MYO9B NA nonsynonymous SNV MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A,MYO9B:NM_004145:exon32:c.T5078C:p.V1693A exonic ENSG00000099331 NA nonsynonymous SNV ENSG00000099331:ENST00000397274:exon31:c.T5078C:p.V1693A,ENSG00000099331:ENST00000595641:exon31:c.T5078C:p.V1693A,ENSG00000099331:ENST00000594824:exon32:c.T5078C:p.V1693A,ENSG00000099331:ENST00000595618:exon32:c.T5078C:p.V1693A NA NA 19p13.11 NA Name=Pol2-4H8 NA NA rs7248508 0.6 0.6 0.579 0.631589 0.3917 0.746 0.6772 0.708 0.6247 0.4 0.78 0.64 0.67 0.5198 0.78 0.93 T 0.0 B 0.0 B 0.011 N 1.000 P -1.5 N -1.85 D -0.953 T 0.000 T 0.051 -0.277 2.673 4.74 1.136 1.204 10.878 -0.277158 NA 0.75 0.399857 0.645631 ID=COSM438877,COSM438878;OCCURENCE=1(breast) 0.587 NA 11.0219764 550 18 2724930 2724930 A T exonic SMCHD1 NA nonsynonymous SNV SMCHD1:NM_015295:exon21:c.A2637T:p.K879N exonic ENSG00000101596 NA nonsynonymous SNV ENSG00000101596:ENST00000577880:exon10:c.A1050T:p.K350N,ENSG00000101596:ENST00000261598:exon21:c.A2637T:p.K879N,ENSG00000101596:ENST00000320876:exon21:c.A2637T:p.K879N Score=597;Name=lod=356 NA 18p11.32 NA NA Name=2 NA rs633422 0.28 0.28 0.231 0.20627 0.4553 0.1915 0.2925 0.0166 0.1605 0.44 0.24 0.33 0.02 0.418 0.44 0.28 T 0.0 B 0.0 B 0.001 D 0.284 P 0.805 L 1.8 T -0.904 T 0.000 T 0.078 1.977 12.57 3.1 0.363 1.045 5.757 1.976754 1.976754 NA 0.438346 0.082642 NA 0.174 NA 11.0216874 550 8 196274 196274 T G exonic ZNF596 NA nonsynonymous SNV ZNF596:NM_001042415:exon6:c.T1427G:p.V476G,ZNF596:NM_001042416:exon6:c.T1427G:p.V476G,ZNF596:NM_173539:exon6:c.T1427G:p.V476G exonic ENSG00000172748 NA nonsynonymous SNV ENSG00000172748:ENST00000320552:exon4:c.T1217G:p.V406G,ENSG00000172748:ENST00000308811:exon6:c.T1427G:p.V476G,ENSG00000172748:ENST00000398612:exon6:c.T1427G:p.V476G NA NA 8p23.3 NA Name=KAP1,SETDB1,ZNF274 NA NA rs2072174 0.18 0.18 0.159 0.169329 0.0855 0.3294 0.1844 0.0862 0.1922 0.09 0.37 0.19 0.1 0.1381 0.37 0.05 D 0.069 B 0.054 B . . 1.000 P 0.745 N 2.19 T -0.904 T 0.000 T 0.109 -0.658 1.112 -4.35 -0.910 -1.577 0.692 -0.6578 NA 0.05 0.089302 0.096232 NA 0.174 NA 11.0204314 550 20 34502107 34502107 G A exonic PHF20 NA nonsynonymous SNV PHF20:NM_016436:exon12:c.G1813A:p.V605M exonic ENSG00000025293 NA nonsynonymous SNV ENSG00000025293:ENST00000374012:exon12:c.G1813A:p.V605M Score=446;Name=lod=87 NA 20q11.23 Score=873;Name=V$IRF2_01 NA NA NA rs17431878 0.09 0.09 0.074 0.105831 0.1034 0.0863 0.1153 0.0726 0.1667 0.1 0.07 0.13 0.06 0.1047 0.13 0.1 T 0.148 B 0.033 B 0.199 N 0.000 P 0 N 1.47 T -1.051 T 0.001 T 0.024 0.947 8.86 3.18 0.694 1.275 8.456 0.946747 NA 0.09 0.105 0.074671 NA 0.08 NA 11.0202334 550 5 79026360 79026360 G A exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.G1772A:p.G591D exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.G1772A:p.G591D Score=272;Name=lod=17 NA 5q14.1 NA NA NA NA rs16877124 0.28 0.28 0.34 0.272364 0.0815 0.3621 0.0821 0.5787 0.0971 0.08 0.41 0.08 0.61 0.1466 0.61 1 T 0.0 B 0.0 B 0.020 N 0.999 P -1.1 N 2.07 T -0.942 T 0.000 T 0.131 -0.072 3.649 5.8 1.039 1.390 8.459 -0.071966 NA 1 0.085707 0.487703 ID=COSM149863;OCCURENCE=1(stomach) 0.304 NA 11.0195264 550 10 5136651 5136651 C G exonic AKR1C3 NA nonsynonymous SNV AKR1C3:NM_001253909:exon1:c.C15G:p.H5Q,AKR1C3:NM_003739:exon1:c.C15G:p.H5Q exonic ENSG00000196139 NA nonsynonymous SNV ENSG00000196139:ENST00000380554:exon1:c.C15G:p.H5Q NA NA 10p15.1 NA Name=HEY1,TBP,c-Fos,KAP1,Sin3Ak-20,GTF2F1_(RAP-74),p300,GATA-1,TAF1,SP1,Pol2 Name=91 NA rs12529 0.57 0.57 0.558 0.579673 0.4046 0.8611 0.5447 0.4569 0.6605 0.41 0.87 0.55 0.5 0.4978 0.87 0.35 T 0.001 B 0.003 B 0.000 N 1.000 P -0.55 N 0.85 T -0.993 T 0.000 T 0.028 0.461 6.504 -4.36 -1.160 -1.565 6.266 0.461158 NA 0.34 0.412421 0.464367 NA 0.5 NA 11.0185124 550 7 27827103 27827103 T A exonic TAX1BP1 NA nonsynonymous SNV TAX1BP1:NM_001206902:exon7:c.T448A:p.L150I,TAX1BP1:NM_001079864:exon8:c.T919A:p.L307I,TAX1BP1:NM_001206901:exon8:c.T919A:p.L307I,TAX1BP1:NM_006024:exon8:c.T919A:p.L307I exonic ENSG00000106052 NA nonsynonymous SNV ENSG00000106052:ENST00000433216:exon7:c.T448A:p.L150I,ENSG00000106052:ENST00000265393:exon8:c.T919A:p.L307I,ENSG00000106052:ENST00000396319:exon8:c.T919A:p.L307I,ENSG00000106052:ENST00000409980:exon8:c.T919A:p.L307I,ENSG00000106052:ENST00000543117:exon8:c.T919A:p.L307I Score=663;Name=lod=657 NA 7p15.2 NA NA NA NA rs11540483 0.05 0.05 0.045 0.0379393 0.1173 0.001 0.0663 0.0061 0.0174 0.11 NA 0.08 0.01 0.0805 0.12 0.25 T 0.717 P 0.566 P 0.019 N 0.035 P 1.5 L 2.83 T -1.088 T 0.001 T 0.071 2.844 15.47 2.28 0.460 2.318 2.990 2.843571 2.843571 0.03 0.117558 0.024058 NA 0.087 NA 11.0179754 550 1 248059476 248059476 A C exonic OR2W3 NA nonsynonymous SNV OR2W3:NM_001001957:exon1:c.A588C:p.E196D exonic ENSG00000238243 NA nonsynonymous SNV ENSG00000238243:ENST00000360358:exon1:c.A588C:p.E196D,ENSG00000238243:ENST00000537741:exon3:c.A588C:p.E196D NA NA 1q44 NA NA NA NA rs12139390 0.59 0.59 0.559 0.576078 0.7962 0.5833 0.5965 0.2602 0.7546 0.79 0.54 0.61 0.29 0.7155 0.81 0.05 D 0.999 D 0.986 D 0.000 D 1.000 P 2.515 M 8.44 T -0.914 T 0.000 T 0.208 2.059 12.84 -2.08 -0.240 -0.407 11.115 2.058771 2.058771 0.01 0.805465 0.363822 NA 0.572 NA 11.0161684 550 5 79024779 79024779 A G exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.A191G:p.Y64C exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A191G:p.Y64C Score=651;Name=lod=591 NA 5q14.1 NA NA NA NA rs16877109 0.29 0.29 0.338 0.277356 0.0815 0.3621 0.085 0.5961 0.0971 0.08 0.41 0.09 0.62 0.1495 0.62 1 T 0.0 B 0.0 B 0.000 N 0.992 P -1.1 N 2.01 T -0.960 T 0.000 T 0.164 -0.333 2.421 5.7 1.415 5.366 10.364 -0.333065 NA 1 0.086564 0.515684 NA 0.319 NA 11.0157694 551 1 55182300 55182300 T A exonic TTC4 NA nonsynonymous SNV TTC4:NM_004623:exon2:c.T139A:p.S47T exonic ENSG00000243725,ENSG00000271723 NA stopgain ENSG00000271723:ENST00000414150:exon25:c.T3846A:p.C1282X Score=425;Name=lod=71 NA 1p32.3 Score=883;Name=V$FREAC7_01 NA NA NA rs1147990 0.66 0.66 0.662 0.668331 0.5477 0.9683 0.6081 0.5038 0.7485 0.53 0.97 0.59 0.56 0.599 0.97 1 T 0.001 B 0.0 B . . 0.000 P -0.425 N 2.67 T -0.965 T 0.000 T 0.012 1.503 10.97 4.92 1.011 5.925 9.617 1.502706 1.502706 NA 0.511047 0.551975 NA 0.543 NA 11.0089197 551 14 68257352 68257352 T A exonic ZFYVE26 NA nonsynonymous SNV ZFYVE26:NM_015346:exon15:c.A2692T:p.T898S exonic ENSG00000072121 NA nonsynonymous SNV ENSG00000072121:ENST00000347230:exon15:c.A2692T:p.T898S,ENSG00000072121:ENST00000555452:exon15:c.A2692T:p.T898S Score=525;Name=lod=181 NA 14q24.1 NA NA NA NA rs17192170 0.05 0.05 0.039 0.0429313 0.1153 NA 0.0648 0.0061 0.047 0.1 NA 0.07 0.002 0.0903 0.12 0.89 T 0.08 B 0.027 B 0.113 N 0.000 P 2.015 M 1.73 T -1.034 T 0.001 T 0.136 1.968 12.54 2.38 0.504 1.256 2.477 1.96792 1.96792 0.66 0.12 0.02769 NA 0.08 NA 11.0077334 551 2 43519977 43519977 C T exonic THADA NA nonsynonymous SNV THADA:NM_001083953:exon32:c.G4814A:p.C1605Y,THADA:NM_022065:exon32:c.G4814A:p.C1605Y exonic ENSG00000115970 NA nonsynonymous SNV ENSG00000115970:ENST00000405006:exon32:c.G4814A:p.C1605Y,ENSG00000115970:ENST00000405975:exon32:c.G4814A:p.C1605Y,ENSG00000115970:ENST00000415080:exon32:c.G3857A:p.C1286Y Score=383;Name=lod=48 NA 2p21 NA NA NA NA rs35720761 0.08 0.08 0.071 0.0690895 0.1044 NA 0.1412 0.0772 0.0419 0.11 NA 0.14 0.07 0.098 0.14 0.08 T 0.322 B 0.061 B 0.011 N 0.000 P 0.625 N 2.91 T -1.013 T 0.000 T 0.307 1.524 11.05 3.91 1.450 1.916 9.066 1.524467 1.524467 0 0.124246 0.077472 NA 0.123 NA 11.0066874 552 1 243329049 243329049 G A exonic CEP170 NA nonsynonymous SNV CEP170:NM_001042404:exon12:c.C1919T:p.T640I,CEP170:NM_001042405:exon12:c.C1919T:p.T640I,CEP170:NM_014812:exon13:c.C2213T:p.T738I exonic ENSG00000143702 NA nonsynonymous SNV ENSG00000143702:ENST00000366543:exon12:c.C1919T:p.T640I,ENSG00000143702:ENST00000366544:exon12:c.C1919T:p.T640I,ENSG00000143702:ENST00000366542:exon13:c.C2213T:p.T738I NA NA 1q43 Score=918;Name=V$HSF2_01 NA NA NA rs3766664 NA NA 0.181 NA NA NA NA NA NA NA NA NA NA 0.3293 NA 0.13 T 0.441 B 0.2 B 0.876 N 0.973 N 0.55 N 0.87 T -1.003 T 0.089 T 0.134 1.106 9.512 3.25 1.208 1.630 7.105 1.106068 NA 0.05 NA NA NA NA NA 11.0040334 552 1 183515428 183515428 G A exonic SMG7 NA nonsynonymous SNV SMG7:NM_001174061:exon16:c.G2572A:p.V858I,SMG7:NM_173156:exon17:c.G2698A:p.V900I,SMG7:NM_201568:exon17:c.G2560A:p.V854I,SMG7:NM_201569:exon17:c.G2560A:p.V854I exonic ENSG00000116698 NA nonsynonymous SNV ENSG00000116698:ENST00000508461:exon16:c.G2572A:p.V858I,ENSG00000116698:ENST00000347615:exon17:c.G2698A:p.V900I,ENSG00000116698:ENST00000456731:exon17:c.G2434A:p.V812I,ENSG00000116698:ENST00000507469:exon17:c.G2560A:p.V854I,ENSG00000116698:ENST00000515829:exon17:c.G2560A:p.V854I,ENSG00000116698:ENST00000367537:exon18:c.G2647A:p.V883I Score=572;Name=lod=282 NA 1q25.3 NA NA NA NA rs2298083 0.17 0.17 0.159 0.165535 0.0984 0.1052 0.2233 0.2935 0.0828 0.11 0.11 0.18 0.31 0.1231 0.31 0.18 T 0.255 B 0.106 B 0.921 N 0.000 P 0.695 N 0.82 T -0.996 T 0.000 T 0.159 3.758 19.08 5.72 2.691 5.505 19.897 3.758164 3.758164 0.01 0.109535 0.256015 NA 0.196 NA 11.0022984 552 7 881668 881668 C T exonic SUN1 NA nonsynonymous SNV SUN1:NM_001130965:exon3:c.C352T:p.H118Y,SUN1:NM_025154:exon3:c.C202T:p.H68Y,SUN1:NM_001171944:exon4:c.C352T:p.H118Y,SUN1:NM_001171946:exon4:c.C352T:p.H118Y,SUN1:NM_001171945:exon5:c.C415T:p.H139Y exonic ENSG00000164828 NA nonsynonymous SNV ENSG00000164828:ENST00000450881:exon2:c.C277T:p.H93Y,ENSG00000164828:ENST00000389574:exon3:c.C202T:p.H68Y,ENSG00000164828:ENST00000401592:exon3:c.C352T:p.H118Y,ENSG00000164828:ENST00000403868:exon3:c.C352T:p.H118Y,ENSG00000164828:ENST00000405266:exon3:c.C352T:p.H118Y,ENSG00000164828:ENST00000425407:exon3:c.C202T:p.H68Y,ENSG00000164828:ENST00000452783:exon4:c.C352T:p.H118Y,ENSG00000164828:ENST00000435699:exon5:c.C352T:p.H118Y,ENSG00000164828:ENST00000439679:exon5:c.C352T:p.H118Y,ENSG00000164828:ENST00000457378:exon5:c.C415T:p.H139Y,ENSG00000164828:ENST00000457598:exon5:c.C352T:p.H118Y,ENSG00000164828:ENST00000456758:exon6:c.C526T:p.H176Y Score=321;Name=lod=27 NA 7p22.3 NA NA NA NA rs6461378 0.53 0.53 0.532 0.532947 0.4324 0.6399 0.4438 0.6233 0.4673 0.43 0.63 0.42 0.64 0.4667 0.64 0.38 T 0.945 P 0.558 P 0.276 N 0.000 P 1.1 L 0.7 T -0.947 T 0.000 T 0.148 1.41 10.65 5.56 2.610 5.379 19.110 1.410311 1.410311 0.3 0.432012 0.563401 NA 0.514 NA 11.0022214 552 5 140793007 140793007 A G exonic PCDHGA10 NA nonsynonymous SNV PCDHGA10:NM_018913:exon1:c.A265G:p.I89V,PCDHGA10:NM_032090:exon1:c.A265G:p.I89V exonic ENSG00000253846 NA nonsynonymous SNV ENSG00000253846:ENST00000398610:exon1:c.A265G:p.I89V Score=397;Name=lod=55 NA 5q31.3 Score=766;Name=V$MIF1_01 NA Name=4 NA rs4912751 0.54 0.54 0.497 0.55611 0.4245 0.3254 0.6239 0.8941 0.4243 0.45 0.33 0.6 0.86 0.4782 0.86 1 T 0.0 B 0.002 B . . 0.000 P -1.095 N 1.78 T -0.972 T 0.000 T 0.012 -1.002 0.258 2.76 0.352 -2.080 10.693 -1.001608 NA 1 0.428622 0.833022 NA 0.543 NA 11.0020114 552 11 56143592 56143592 C T exonic OR8U1,OR8U8 NA nonsynonymous SNV OR8U1:NM_001005204:exon1:c.C493T:p.R165C exonic ENSG00000172199 NA nonsynonymous SNV ENSG00000172199:ENST00000302270:exon1:c.C493T:p.R165C NA NA 11q12.1 NA NA NA NA rs17150411 0.32 0.32 0.281 NA NA NA NA NA NA 0.29 0.43 0.42 0.16 0.3315 0.43 0.03 D 0.03 B 0.022 B 0.024 N 1.000 P 1.28 L 8.59 T -1.050 T 0.000 T 0.555 0.108 4.583 2.79 1.472 -2.520 7.772 0.108223 NA 0.07 NA NA ID=COSM1354638;OCCURENCE=1(large_intestine) 0.239 NA 11.0018334 552 22 46719100 46719100 C G exonic GTSE1 NA nonsynonymous SNV GTSE1:NM_016426:exon8:c.C1446G:p.D482E exonic ENSG00000075218 NA nonsynonymous SNV ENSG00000075218:ENST00000454366:exon8:c.C1446G:p.D482E NA NA 22q13.31 NA Name=BRCA1_(C-1863),E2F1,c-Jun,HA-E2F1,p300_(N-15),TBP Name=6 NA rs6008684 0.12 0.12 0.128 0.114417 0.1223 0.001 0.0692 0.2791 0.0327 0.13 NA 0.09 0.27 0.0987 0.27 0.09 T 0.13 B 0.042 B 0.254 N 1.000 P 2.045 M 3.34 T -0.943 T 0.000 T 0.051 0.183 4.984 -4.36 -0.816 -0.322 3.185 0.182775 NA 0.24 0.110814 0.258284 NA 0.138 NA 11.0015194 552 4 184190233 184190233 G T exonic WWC2 NA nonsynonymous SNV WWC2:NM_024949:exon15:c.G2317T:p.A773S exonic ENSG00000151718 NA nonsynonymous SNV ENSG00000151718:ENST00000504005:exon8:c.G1363T:p.A455S,ENSG00000151718:ENST00000438543:exon14:c.G2023T:p.A675S,ENSG00000151718:ENST00000378925:exon15:c.G2023T:p.A675S,ENSG00000151718:ENST00000403733:exon15:c.G2317T:p.A773S,ENSG00000151718:ENST00000448232:exon15:c.G2317T:p.A773S,ENSG00000151718:ENST00000513834:exon15:c.G2170T:p.A724S Score=446;Name=lod=87 NA 4q35.1 NA NA NA NA rs11941467 0.07 0.07 0.065 0.0998403 0.1143 0.0933 0.072 0.0166 0.2239 0.11 0.08 0.08 0.01 0.1076 0.13 0.57 T 0.099 B 0.04 B 0.005 N 1.000 N 0.22 N 2.46 T -1.053 T 0.001 T 0.16 0.524 6.837 3.5 1.430 1.546 13.716 0.523552 NA 0.78 0.110116 0.037222 NA 0.087 NA 11.0013174 552 7 107834613 107834613 G C exonic NRCAM NA nonsynonymous SNV NRCAM:NM_001037132:exon14:c.C1633G:p.P545A,NRCAM:NM_001193583:exon16:c.C1576G:p.P526A,NRCAM:NM_001193584:exon16:c.C1576G:p.P526A,NRCAM:NM_005010:exon16:c.C1615G:p.P539A,NRCAM:NM_001193582:exon17:c.C1633G:p.P545A exonic ENSG00000091129 NA nonsynonymous SNV ENSG00000091129:ENST00000425651:exon14:c.C1633G:p.P545A,ENSG00000091129:ENST00000351718:exon16:c.C1615G:p.P539A,ENSG00000091129:ENST00000379024:exon16:c.C1576G:p.P526A,ENSG00000091129:ENST00000379028:exon17:c.C1633G:p.P545A,ENSG00000091129:ENST00000413765:exon17:c.C1576G:p.P526A,ENSG00000091129:ENST00000379022:exon18:c.C1633G:p.P545A Score=426;Name=lod=72 NA 7q31.1 NA Name=MafK_(ab50322),ERalpha_a,GR,MafK_(SC-477),MafF_(M8194) Name=8 NA rs6958498 0.73 0.73 0.703 0.698882 0.7992 0.8839 0.8012 0.441 0.681 0.8 0.89 0.8 0.4 0.7562 0.89 0.45 T 0.282 B 0.305 B 0.000 N 0.000 P 1.19 L 1.48 T -1.097 T 0.000 T 0.246 2.438 14.11 4.82 1.381 7.583 16.795 2.438335 2.438335 0.23 0.779767 0.506582 NA 0.609 NA 10.9981664 552 16 81279120 81279120 T C exonic BCMO1 NA synonymous SNV BCMO1:NM_017429:exon2:c.T105C:p.N35N exonic ENSG00000135697 NA nonsynonymous SNV ENSG00000135697:ENST00000425577:exon2:c.T28C:p.W10R NA NA 16q23.2 NA NA NA NA rs28370522 0.38 0.38 0.356 0.379593 0.341 0.3472 0.366 0.5484 0.2342 0.33 0.31 0.38 0.55 0.3405 0.55 0 D 0.0 B 0.0 B . . 0.000 P . . -3.19 D -1.038 T 0.000 T . 0.577 7.118 -7.85 -2.283 -2.127 17.496 0.577439 NA 0 0.320698 0.517938 ID=COSM148124;OCCURENCE=1(stomach) 0.377 NA 10.997802 552 5 118969960 118969960 C T exonic FAM170A NA nonsynonymous SNV FAM170A:NM_001163991:exon2:c.C376T:p.P126S,FAM170A:NM_182761:exon3:c.C517T:p.P173S exonic ENSG00000164334 NA nonsynonymous SNV ENSG00000164334:ENST00000379555:exon2:c.C376T:p.P126S,ENSG00000164334:ENST00000504819:exon2:c.C376T:p.P126S,ENSG00000164334:ENST00000335286:exon3:c.C517T:p.P173S,ENSG00000164334:ENST00000515256:exon3:c.C517T:p.P173S NA NA 5q23.1 NA NA NA NA rs328694 0.43 0.43 0.416 0.44349 0.4453 0.495 0.3876 0.3495 0.5552 0.42 0.52 0.4 0.35 0.4473 0.52 . . 1.0 D 0.999 D 0.000 D 1.000 P 2.075 M 0.98 T -0.914 T 0.000 T 0.022 1.318 10.32 2.11 0.357 0.813 3.731 1.318429 1.318429 0.13 0.444856 0.340715 ID=COSM1130958;OCCURENCE=1(prostate) 0.464 NA 10.9958774 553 11 123887164 123887164 A C exonic OR10G4 NA nonsynonymous SNV OR10G4:NM_001004462:exon1:c.A883C:p.K295Q exonic ENSG00000254737 NA nonsynonymous SNV ENSG00000254737:ENST00000320891:exon1:c.A883C:p.K295Q Score=435;Name=lod=78 NA 11q24.1 NA NA NA NA rs4936881 0.45 0.45 0.377 0.427716 0.4404 0.3591 0.5029 0.469 0.3763 0.44 0.4 0.53 0.45 0.4472 0.53 0.01 D 0.265 B 0.128 B 0.014 N 0.989 P 1.34 L 1.08 T -0.905 T 0.000 T 0.085 2.121 13.05 3.38 1.547 3.532 11.941 2.121331 2.121331 0 0.455793 0.478646 ID=COSM147352;OCCURENCE=1(stomach) 0.377 NA 10.9899404 553 16 23080634 23080634 C A exonic USP31 NA nonsynonymous SNV USP31:NM_020718:exon16:c.G2792T:p.R931L exonic ENSG00000103404 NA nonsynonymous SNV ENSG00000103404:ENST00000567975:exon2:c.G671T:p.R224L,ENSG00000103404:ENST00000219689:exon16:c.G2792T:p.R931L NA NA 16p12.2 NA NA NA NA rs10083789 0.18 0.18 0.185 0.145567 0.3042 0.0546 0.1873 0.1157 0.0869 0.3 0.06 0.22 0.12 0.2319 0.31 0.39 T 0.982 D 0.691 P 0.102 N 1.000 P 1.59 L 2.95 T -0.829 T 0.000 T 0.425 2.805 15.34 5.07 1.557 1.836 14.489 2.805061 2.805061 0.01 0.308837 0.153391 NA 0.145 NA 10.9883964 553 1 159409857 159409857 A G exonic OR10J1 NA nonsynonymous SNV OR10J1:NM_012351:exon1:c.A309G:p.I103M exonic ENSG00000196184 NA nonsynonymous SNV ENSG00000196184:ENST00000423932:exon1:c.A309G:p.I103M NA NA 1q23.2 NA NA NA NA rs12048482 0.47 0.47 0.46 0.479633 0.6471 0.2381 0.5101 0.4297 0.6022 0.65 0.27 0.56 0.39 0.563 0.65 0.02 D 0.971 D 0.841 P 0.001 D 1.000 P 2.8 M 7.13 T -0.903 T 0.001 T 0.284 1.13 9.605 -1.89 -0.511 -1.590 3.694 1.129702 NA 0 0.636512 0.493872 ID=COSM146659,COSM146660;OCCURENCE=1(stomach) 0.514 NA 10.9867214 554 1 152281228 152281228 C G exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G6134C:p.S2045T exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G6134C:p.S2045T NA NA 1q21.3 NA NA NA NA rs7546186 NA NA 0.188 NA NA NA NA NA NA NA NA NA NA 0.2189 0.33 0.54 T 0.899 P 0.722 P . . 1.000 N 2.045 M 3.14 T -1.007 T 0.016 T 0.018 0.147 4.788 2.37 0.726 1.514 8.020 0.146596 NA 0.15 0.131138 0.327962 NA NA NA 10.9832954 554 11 69063510 69063510 G A exonic MYEOV NA nonsynonymous SNV MYEOV:NM_138768:exon3:c.G593A:p.R198Q exonic ENSG00000172927 NA nonsynonymous SNV ENSG00000172927:ENST00000535407:exon2:c.G419A:p.R140Q,ENSG00000172927:ENST00000308946:exon3:c.G593A:p.R198Q,ENSG00000172927:ENST00000441339:exon3:c.G593A:p.R198Q NA NA 11q13.3 NA Name=Egr-1 NA NA rs11539762 0.13 0.13 0.138 0.160942 0.1083 0.2163 0.0893 0.1074 0.2812 0.1 0.2 0.1 0.11 0.1342 0.2 0 D 0.981 D 0.152 B . . 1.000 P 0 N 1.84 T -0.985 T 0.000 T 0.067 1.565 11.19 1.41 1.070 -0.346 6.216 1.564823 1.564823 0.69 0.107708 0.098409 ID=COSM1356602;OCCURENCE=1(large_intestine) 0.174 NA 10.9831254 554 11 5536852 5536852 A G exonic UBQLNL NA nonsynonymous SNV UBQLNL:NM_145053:exon1:c.T820C:p.Y274H exonic ENSG00000175518 NA nonsynonymous SNV ENSG00000175518:ENST00000380184:exon1:c.T820C:p.Y274H NA NA 11p15.4 NA NA NA NA rs2017434 0.34 0.34 0.31 0.320887 0.2644 0.375 0.3487 0.3472 0.2679 0.28 0.41 0.31 0.37 0.3125 0.41 0.01 D 0.799 P 0.425 B 0.145 N 1.000 P 2.75 M 0.23 T -1.008 T 0.000 T 0.139 0.651 7.494 3.94 0.925 1.024 8.845 0.651206 NA 0.04 0.275308 0.336211 NA 0.304 NA 10.9811254 554 2 160885442 160885442 T C exonic PLA2R1 NA nonsynonymous SNV PLA2R1:NM_001007267:exon5:c.A874G:p.M292V,PLA2R1:NM_001195641:exon5:c.A874G:p.M292V,PLA2R1:NM_007366:exon5:c.A874G:p.M292V exonic ENSG00000153246 NA nonsynonymous SNV ENSG00000153246:ENST00000283243:exon5:c.A874G:p.M292V,ENSG00000153246:ENST00000392771:exon5:c.A874G:p.M292V Score=329;Name=lod=29 NA 2q24.2 NA NA NA NA rs3749117 0.33 0.33 0.3 0.256989 0.4742 0.3542 0.2695 0.0552 0.1973 0.49 0.35 0.3 0.06 0.3886 0.49 0.04 D 0.002 B 0.011 B 0.587 N 0.995 P 1.125 L 2.44 T -0.936 T 0.000 T 0.093 0.936 8.814 4.64 0.991 3.267 12.167 0.935883 NA 0.3 0.489767 0.121198 NA 0.254 NA 10.9807664 554 2 207820276 207820276 G A exonic CPO NA nonsynonymous SNV CPO:NM_173077:exon3:c.G255A:p.M85I exonic ENSG00000144410 NA nonsynonymous SNV ENSG00000144410:ENST00000272852:exon3:c.G255A:p.M85I Score=317;Name=lod=26 NA 2q33.3 NA NA NA NA rs13420911 0.39 0.39 0.388 0.382388 0.4553 0.4067 0.2579 0.3843 0.3681 0.45 0.39 0.3 0.39 0.4222 0.48 0.7 T 0.021 B 0.014 B 0.000 D 0.965 P -1.19 N 3.12 T -0.961 T 0.000 T 0.171 -0.474 1.814 5.11 2.660 1.092 11.019 -0.473902 NA 0.99 0.475581 0.38788 NA 0.486 NA 10.9802524 554 19 48800914 48800914 G A exonic CCDC114 NA nonsynonymous SNV CCDC114:NM_144577:exon13:c.C1403T:p.P468L exonic ENSG00000105479 NA nonsynonymous SNV ENSG00000105479:ENST00000315396:exon13:c.C1403T:p.P468L Score=300;Name=lod=22 NA 19q13.33 NA NA NA NA rs35461177 0.2 0.2 0.169 0.167532 0.2803 0.1329 0.2277 0.1036 0.1309 0.26 0.14 0.28 0.1 0.2887 0.29 0.02 D 0.606 P 0.077 B . . 0.721 P 0.895 L 1.98 T -0.927 T 0.000 T 0.032 2.823 15.4 1.84 0.965 1.490 5.469 2.822657 2.822657 0.07 0.285465 0.128688 ID=COSM148680;OCCURENCE=1(stomach) 0.217 NA 10.9788684 554 2 121726366 121726366 C T exonic GLI2 NA synonymous SNV GLI2:NM_005270:exon5:c.C720T:p.D240D exonic ENSG00000074047 NA nonsynonymous SNV ENSG00000074047:ENST00000360874:exon3:c.C307T:p.R103C Score=457;Name=lod=96 NA 2q14.2 NA NA NA NA rs142793481 0.01 0.01 0.001 0.00359425 0.0089 0.002 0.0014 NA 0.0061 0.01 0.0035 0.01 NA 0.0073 0.01 0 D 0.008 B 0.002 B . . 1.000 D . . . . -0.994 T 0.122 T . 4.124 21.3 -4.85 -0.744 -0.851 14.435 4.124312 4.124312 0 0.005465 0.001589 NA NA NA 10.978335 554 17 15554504 15554504 G A exonic TRIM16 NA synonymous SNV TRIM16:NM_006470:exon4:c.C420T:p.A140A exonic ENSG00000221926,ENSG00000251537 NA synonymous SNV ENSG00000251537:ENST00000455584:exon1:c.C420T:p.A140A,ENSG00000221926:ENST00000336708:exon4:c.C420T:p.A140A,ENSG00000221926:ENST00000578237:exon6:c.C420T:p.A140A Score=358;Name=lod=38 NA 17p12 NA Name=CTCF,Pol2,SMC3_(ab9263) Name=27 NA rs4792642 0.25 0.25 0.226 0.276358 0.2107 0.3125 0.281 0.2829 0.2945 0.21 0.28 0.25 0.27 0.2511 0.3 . . . . . . . . 0.000 P . . . . -1.077 T 0.000 T . 1.305 10.27 4.44 2.563 0.296 13.537 1.304808 1.304808 NA 0.226628 0.299138 NA 0.152 NA 10.9782386 554 1 9074861 9074861 C T exonic SLC2A7 NA nonsynonymous SNV SLC2A7:NM_207420:exon7:c.G782A:p.R261Q exonic ENSG00000197241 NA nonsynonymous SNV ENSG00000197241:ENST00000400906:exon7:c.G782A:p.R261Q Score=358;Name=lod=38 NA 1p36.23 NA NA Name=6 NA rs12402973 0.11 0.11 0.092 0.0950479 0.1123 0.1696 0.1527 0.0129 0.0706 0.1 0.16 0.14 0.01 0.1474 0.16 0.31 T 0.009 B 0.005 B 0.033 N 0.997 P -0.045 N -0.73 T -1.087 T 0.001 T 0.067 -0.133 3.349 -2.98 -1.040 0.018 12.185 -0.132953 NA 0.23 0.097533 0.030923 ID=COSM1126929;OCCURENCE=1(prostate) 0.058 NA 10.9761004 554 3 193036783 193036783 G A exonic ATP13A5 NA nonsynonymous SNV ATP13A5:NM_198505:exon17:c.C2030T:p.A677V exonic ENSG00000187527 NA nonsynonymous SNV ENSG00000187527:ENST00000342358:exon17:c.C2030T:p.A677V Score=361;Name=lod=39 NA 3q29 NA NA NA NA rs73888252 0.19 0.19 0.183 0.205871 0.0974 0.2768 0.1326 0.2731 0.2055 0.1 0.29 0.13 0.24 0.1492 0.29 0.22 T 0.013 B 0.016 B 0.939 N 0.473 P 0.52 N 0.38 T -1.048 T 0.000 T 0.056 0.661 7.543 5.0 1.454 1.902 12.263 0.661046 NA 0.27 0.111163 0.240581 NA 0.203 NA 10.9755704 554 8 144893084 144893084 G A exonic SCRIB NA nonsynonymous SNV SCRIB:NM_015356:exon11:c.C1265T:p.P422L,SCRIB:NM_182706:exon11:c.C1265T:p.P422L exonic ENSG00000180900 NA nonsynonymous SNV ENSG00000180900:ENST00000320476:exon11:c.C1265T:p.P422L,ENSG00000180900:ENST00000356994:exon11:c.C1265T:p.P422L,ENSG00000180900:ENST00000377533:exon11:c.C1022T:p.P341L Score=407;Name=lod=60 NA 8q24.3 NA NA NA NA rs6558394 0.53 0.53 0.509 0.534145 0.6282 0.3502 0.6729 0.466 0.6207 0.64 0.36 0.64 0.5 0.5984 0.64 0.29 T 0.983 D 0.839 P . . 0.000 P 0.345 N -1.07 T -0.904 T 0.000 T 0.113 2.935 15.78 4.21 2.047 7.463 15.888 2.93456 2.93456 0.23 0.631518 0.484084 NA 0.551 NA 10.9752154 555 12 96312686 96312686 C A exonic CCDC38 NA nonsynonymous SNV CCDC38:NM_182496:exon3:c.G106T:p.V36F exonic ENSG00000165972 NA nonsynonymous SNV ENSG00000165972:ENST00000344280:exon3:c.G106T:p.V36F Score=458;Name=lod=97 NA 12q23.1 NA NA NA NA rs12368787 0.07 0.07 0.057 0.066893 0.1372 0.0278 0.0749 0.0401 0.0654 0.13 0.02 0.07 0.05 0.0977 0.13 0.62 T 0.0 B 0.0 B 0.004 N 0.000 P -0.975 N 1.7 T -1.016 T 0.000 T 0.098 -0.157 3.234 4.85 0.983 2.491 8.897 -0.156872 NA 0.75 0.124419 0.048365 NA 0.043 NA 10.9740144 555 1 89449390 89449390 T C exonic RBMXL1 NA nonsynonymous SNV RBMXL1:NM_019610:exon2:c.A120G:p.I40M,RBMXL1:NM_001162536:exon3:c.A120G:p.I40M exonic ENSG00000213516 NA nonsynonymous SNV ENSG00000213516:ENST00000321792:exon2:c.A120G:p.I40M,ENSG00000213516:ENST00000399794:exon3:c.A120G:p.I40M Score=671;Name=lod=711 NA 1p22.2 NA NA NA NA rs78952987 NA NA 0.18 NA NA NA NA NA NA NA NA NA NA 0.3607 0.033 1 T 0.0 B 0.01 B 0.000 N 1.000 N 0.305 N -1.55 D -1.001 T 0.090 T 0.15 -0.155 3.243 0.297 -0.006 3.335 4.201 -0.154977 NA 1 NA NA NA 0.029 CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000064930.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 10.9726334 555 8 7218632 7218632 C T exonic ZNF705G NA nonsynonymous SNV ZNF705G:NM_001164457:exon2:c.G139A:p.G47R exonic ENSG00000215372 NA nonsynonymous SNV ENSG00000215372:ENST00000400078:exon2:c.G139A:p.G47R,ENSG00000215372:ENST00000400156:exon4:c.G139A:p.G47R Score=251;Name=lod=14 NA 8p23.1 NA NA NA NA rs3989698 NA NA 0.286 NA NA NA NA NA NA NA NA NA NA 0.3617 0.011 . . . . . . . . 0.989 P 3.175 M 4.13 T -1.072 T 0.032 T 0.154 0.086 4.466 1.24 1.034 2.931 8.534 0.086282 NA 0.05 NA NA NA 0.007 NA 10.9716334 555 12 31605044 31605044 G T exonic DENND5B NA nonsynonymous SNV DENND5B:NM_144973:exon5:c.C1459A:p.H487N exonic ENSG00000170456 NA nonsynonymous SNV ENSG00000170456:ENST00000546299:exon4:c.C1315A:p.H439N,ENSG00000170456:ENST00000389082:exon5:c.C1459A:p.H487N,ENSG00000170456:ENST00000306833:exon6:c.C1564A:p.H522N,ENSG00000170456:ENST00000354285:exon6:c.C1525A:p.H509N,ENSG00000170456:ENST00000536562:exon7:c.C1564A:p.H522N Score=432;Name=lod=76 NA 12p11.21 NA NA NA NA rs1056320 0.18 0.18 0.178 0.177316 0.1233 0.247 0.1052 0.2284 0.1431 0.12 0.24 0.12 0.25 0.1386 0.25 0.46 T 0.006 B 0.026 B 0.022 N 0.998 P 0.345 N 1.05 T -1.030 T 0.000 T 0.087 1.421 10.69 4.67 2.421 5.975 13.191 1.420867 1.420867 0.38 0.104837 0.199379 NA 0.181 NA 10.9665964 555 15 30018627 30018627 T C exonic TJP1 NA nonsynonymous SNV TJP1:NM_003257:exon18:c.A2368G:p.I790V,TJP1:NM_175610:exon18:c.A2368G:p.I790V exonic ENSG00000104067 NA nonsynonymous SNV ENSG00000104067:ENST00000346128:exon18:c.A2368G:p.I790V,ENSG00000104067:ENST00000356107:exon18:c.A2368G:p.I790V,ENSG00000104067:ENST00000545208:exon18:c.A2368G:p.I790V,ENSG00000104067:ENST00000400011:exon19:c.A2380G:p.I794V Score=611;Name=lod=406 NA 15q13.1 NA NA NA NA rs2229515 0.11 0.11 0.086 0.141773 0.1262 0.124 0.2003 0.0582 0.2474 0.11 0.11 0.18 0.07 0.1312 0.18 . . 0.73 P 0.728 P 0.000 N 0.000 P 1.8 L 2.06 T -1.081 T 0.000 T 0.093 3.304 17.1 3.52 0.475 2.833 8.452 3.303927 3.303927 0.04 0.110107 0.069962 NA 0.094 NA 10.9658264 556 12 31256546 31256546 G A exonic DDX11 NA nonsynonymous SNV DDX11:NM_004399:exon25:c.G2422A:p.V808I,DDX11:NM_001257144:exon26:c.G2567A:p.R856H,DDX11:NM_001257145:exon26:c.G2494A:p.V832I,DDX11:NM_030653:exon26:c.G2572A:p.V858I,DDX11:NM_152438:exon26:c.G2567A:p.R856H exonic ENSG00000013573 NA nonsynonymous SNV ENSG00000013573:ENST00000350437:exon25:c.G2422A:p.V808I,ENSG00000013573:ENST00000228264:exon26:c.G2494A:p.V832I,ENSG00000013573:ENST00000407793:exon26:c.G2567A:p.R856H,ENSG00000013573:ENST00000542838:exon26:c.G2572A:p.V858I,ENSG00000013573:ENST00000545668:exon26:c.G2567A:p.R856H Score=511;Name=lod=159 NA 12p11.21 NA Name=ERalpha_a NA NA rs1046457 0.53 0.53 0.523 0.634185 0.4384 0.8075 0.611 0.708 0.5736 0.34 0.74 0.53 0.6 0.5095 0.74 1 T 0.001 B 0.0 B 0.280 N 0.000 P . . -2.76 D -0.942 T 0.000 T 0.288 -1.428 0.021 3.14 0.313 2.796 6.492 -1.427665 NA 1 0.422406 0.646297 NA 0.058 NA 10.9630274 556 17 72350412 72350412 G A exonic KIF19 NA nonsynonymous SNV KIF19:NM_153209:exon18:c.G2420A:p.R807H exonic ENSG00000196169 NA nonsynonymous SNV ENSG00000196169:ENST00000389916:exon18:c.G2420A:p.R807H Score=439;Name=lod=81 NA 17q25.1 NA Name=CTCF_(SC-5916),NANOG_(SC-33759),Pol2-4H8,ZNF263,JunD,TCF12,CCNT2,PAX5-C20,CTCF_(C-20),ATF3,SMC3_(ab9263),TAF7_(SQ-8),YY1_(C-20),Znf143_(16618-1-AP),CTCFL_(SC-98982),GABP,CTCF,Rad21 Name=48 NA rs2271535 0.36 0.36 0.337 0.343051 0.4712 0.4008 0.4207 0.0756 0.4581 0.47 0.42 0.41 0.08 0.4392 0.47 0.19 T 0.008 B 0.002 B . . 0.985 P 1.7 L -0.6 T -0.967 T 0.000 T 0.1 2.037 12.77 1.78 1.141 1.286 6.784 2.036734 2.036734 0 0.467233 0.141127 ID=COSM437309;OCCURENCE=1(breast) 0.391 NA 10.9557004 557 18 55240505 55240505 C T exonic FECH NA nonsynonymous SNV FECH:NM_000140:exon3:c.G287A:p.R96Q,FECH:NM_001012515:exon3:c.G305A:p.R102Q exonic ENSG00000066926 NA nonsynonymous SNV ENSG00000066926:ENST00000262093:exon3:c.G287A:p.R96Q,ENSG00000066926:ENST00000382873:exon3:c.G305A:p.R102Q,ENSG00000066926:ENST00000585494:exon3:c.G287A:p.R96Q,ENSG00000066926:ENST00000585747:exon3:c.G287A:p.R96Q,ENSG00000066926:ENST00000592699:exon3:c.G287A:p.R96Q,ENSG00000066926:ENST00000591215:exon4:c.G71A:p.R24Q Score=568;Name=lod=271 NA 18q21.31 NA NA NA NA rs1041951 0.06 0.06 0.062 0.0517173 0.1233 0.001 0.0793 0.0492 0.0143 0.13 NA 0.08 0.03 0.1029 0.15 0.2 T 0.117 B 0.005 B 0.000 N 0.028 P 1.805 L -4.34 D -0.565 T 0.026 T 0.08 2.558 14.52 4.38 1.630 0.503 10.347 2.558455 2.558455 0.33 0.152442 0.060826 NA 0.051 NA 10.9546914 557 7 48287840 48287840 G A exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon14:c.G1664A:p.R555H exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon14:c.G1664A:p.R555H NA NA 7p12.3 NA NA NA NA rs2361519 0.19 0.19 0.2 0.198083 0.1123 0.1508 0.1873 0.3003 0.2045 0.11 0.18 0.18 0.32 0.1537 0.32 1 T 0.002 B 0.001 B 0.164 N 1.000 P -0.145 N -2.35 D -0.916 T 0.000 T 0.052 -0.9 0.438 -8.57 -1.979 -1.368 15.131 -0.899834 NA 0.62 0.113069 0.270197 NA 0.188 NA 10.9542644 557 2 86433240 86433240 C T exonic MRPL35 NA nonsynonymous SNV MRPL35:NM_016622:exon2:c.C55T:p.P19S,MRPL35:NM_145644:exon2:c.C55T:p.P19S exonic ENSG00000132313 NA nonsynonymous SNV ENSG00000132313:ENST00000254644:exon2:c.C55T:p.P19S,ENSG00000132313:ENST00000337109:exon2:c.C55T:p.P19S,ENSG00000132313:ENST00000409180:exon2:c.C55T:p.P19S,ENSG00000132313:ENST00000605125:exon2:c.C55T:p.P19S Score=325;Name=lod=28 NA 2p11.2 NA NA NA NA rs10901 0.26 0.26 0.244 0.244609 0.4751 0.121 0.2781 0.0552 0.3671 0.46 0.12 0.33 0.06 0.4 0.51 0.33 T 0.192 B 0.033 B 0.000 N 0.038 P 2.295 M 2.65 T -0.941 T 0.000 T 0.233 2.81 15.36 4.74 1.527 2.399 10.645 2.809597 2.809597 0.18 0.505 0.112801 ID=COSM148890;OCCURENCE=1(stomach),1(prostate) 0.319 NA 10.9532334 557 3 194061826 194061826 C T exonic CPN2 NA nonsynonymous SNV CPN2:NM_001080513:exon2:c.G1606A:p.V536M exonic ENSG00000178772 NA nonsynonymous SNV ENSG00000178772:ENST00000323830:exon2:c.G1606A:p.V536M,ENSG00000178772:ENST00000429275:exon2:c.G1606A:p.V536M Score=243;Name=lod=13 NA 3q29 NA NA NA NA rs11711157 0.3 0.3 0.294 0.284545 0.3121 0.3175 0.245 0.1702 0.4049 0.34 0.37 0.3 0.16 0.2944 0.37 0 D 0.918 P 0.063 B 0.083 N 0.775 P 0.895 L 0.38 T -0.961 T 0.000 T 0.128 2.229 13.41 2.79 0.871 0.955 10.235 2.229251 2.229251 0 0.280116 0.186564 NA 0.232 NA 10.9467174 557 8 104337367 104337367 A C exonic FZD6 NA nonsynonymous SNV FZD6:NM_001164615:exon4:c.A1033C:p.M345L,FZD6:NM_003506:exon4:c.A1033C:p.M345L,FZD6:NM_001164616:exon5:c.A937C:p.M313L exonic ENSG00000164930 NA nonsynonymous SNV ENSG00000164930:ENST00000540287:exon3:c.A118C:p.M40L,ENSG00000164930:ENST00000358755:exon4:c.A1033C:p.M345L,ENSG00000164930:ENST00000522484:exon4:c.A1033C:p.M345L,ENSG00000164930:ENST00000522566:exon4:c.A1033C:p.M345L,ENSG00000164930:ENST00000523739:exon5:c.A937C:p.M313L Score=625;Name=lod=464 NA 8q22.3 NA NA NA NA rs3808553 0.46 0.46 0.444 0.448083 0.4583 0.6379 0.5086 0.2988 0.4008 0.45 0.6 0.49 0.28 0.4625 0.6 0.53 T 0.05 B 0.023 B 0.000 D 0.009 P -0.02 N -1.08 T -0.969 T 0.000 T 0.267 1.221 9.953 6.17 2.371 3.769 16.822 1.220576 NA 0.25 0.466279 0.304358 NA 0.471 NA 10.9462544 557 3 8809222 8809222 C T exonic OXTR NA nonsynonymous SNV OXTR:NM_000916:exon3:c.G652A:p.A218T exonic ENSG00000180914 NA nonsynonymous SNV ENSG00000180914:ENST00000316793:exon3:c.G652A:p.A218T Score=579;Name=lod=301 NA 3p25.3 NA Name=GATA-2,GATA3_(SC-268) Name=86 NA rs4686302 0.15 0.15 0.111 0.142572 0.1183 0.1696 0.2695 0.0749 0.1411 0.13 0.17 0.24 0.09 0.149 0.24 0.33 T 0.002 B 0.01 B 0.020 N 0.000 P 0.18 N 1.22 T -0.997 T 0.000 T 0.071 0.641 7.441 3.49 0.623 0.913 10.46 0.640665 NA 0.95 0.120144 0.071947 NA 0.094 NA 10.9458894 557 5 167933158 167933158 T A exonic RARS NA nonsynonymous SNV RARS:NM_002887:exon10:c.T1190A:p.F397Y exonic ENSG00000113643 NA nonsynonymous SNV ENSG00000113643:ENST00000538719:exon9:c.T572A:p.F191Y,ENSG00000113643:ENST00000231572:exon10:c.T1190A:p.F397Y NA NA 5q34 Score=759;Name=V$MEF2_04 NA NA NA rs2305734 0.1 0.1 0.08 0.0439297 0.0785 0.0635 0.0418 0.0038 0.044 0.18 0.08 0.11 0.02 0.1372 0.18 0.04 D 0.001 B 0.024 B 0.021 N 1.000 P 1.3 L -0.07 T -1.087 T 0.000 T 0.077 -0.993 0.27 3.13 0.120 2.391 4.397 -0.993336 NA 1 0.172442 0.035633 NA 0.014 NA 10.9451914 558 5 178540975 178540975 G A exonic ADAMTS2 NA nonsynonymous SNV ADAMTS2:NM_014244:exon22:c.C3529T:p.P1177S exonic ENSG00000087116 NA nonsynonymous SNV ENSG00000087116:ENST00000251582:exon22:c.C3529T:p.P1177S Score=333;Name=lod=30 NA 5q35.3 NA NA NA NA rs1054480 0.25 0.25 0.242 0.263778 0.2952 0.3105 0.3833 0.0401 0.4008 0.3 0.31 0.34 0.05 0.2998 0.34 0.57 T 0.651 P 0.084 B 0.004 N 0.000 P 0.695 N 0.35 T -0.969 T 0.000 T 0.061 1.386 10.57 5.05 2.308 3.893 17.394 1.386031 1.386031 0.2 0.293837 0.081026 NA 0.246 NA 10.9444964 558 19 6156510 6156510 A G exonic ACSBG2 NA nonsynonymous SNV ACSBG2:NM_030924:exon5:c.A455G:p.K152R exonic ENSG00000130377 NA nonsynonymous SNV ENSG00000130377:ENST00000587227:exon1:c.A50G:p.K17R,ENSG00000130377:ENST00000252669:exon5:c.A455G:p.K152R,ENSG00000130377:ENST00000586696:exon5:c.A455G:p.K152R,ENSG00000130377:ENST00000588304:exon5:c.A305G:p.K102R,ENSG00000130377:ENST00000591403:exon5:c.A455G:p.K152R Score=458;Name=lod=97 NA 19p13.3 NA NA NA NA rs33937754 0.06 0.06 0.053 0.0495208 0.1332 NA 0.0677 0.0068 0.0593 0.13 NA 0.07 0.0041 0.1025 0.15 0.93 T 0.004 B 0.029 B 0.019 N 0.000 P 0.87 L 2.84 T -1.020 T 0.000 T 0.071 0.545 6.947 5.9 2.251 4.329 14.284 0.544588 NA 0.92 0.153372 0.026101 NA 0.087 NA 10.9442614 558 13 114175032 114175032 G A exonic TMCO3 NA nonsynonymous SNV TMCO3:NM_017905:exon8:c.G1327A:p.A443T exonic ENSG00000150403 NA nonsynonymous SNV ENSG00000150403:ENST00000434316:exon8:c.G1327A:p.A443T Score=361;Name=lod=39 NA 13q34 NA NA NA NA rs2260335 0.2 0.2 0.218 0.203674 0.1282 0.1498 0.1369 0.41 0.1053 0.12 0.16 0.14 0.4 0.1359 0.4 0.45 T 0.097 B 0.033 B 0.004 N 0.000 P 0.84 L 2.39 T -0.899 T 0.000 T 0.015 -0.155 3.243 4.09 1.083 2.740 13.108 -0.154835 NA 0.34 0.125465 0.344303 NA 0.196 NA 10.9437684 558 5 74055209 74055209 T C exonic GFM2 NA nonsynonymous SNV GFM2:NM_032380:exon4:c.A191G:p.N64S,GFM2:NM_170681:exon4:c.A191G:p.N64S,GFM2:NM_170691:exon4:c.A191G:p.N64S exonic ENSG00000164347 NA nonsynonymous SNV ENSG00000164347:ENST00000296805:exon4:c.A191G:p.N64S,ENSG00000164347:ENST00000345239:exon4:c.A191G:p.N64S,ENSG00000164347:ENST00000427854:exon4:c.A191G:p.N64S,ENSG00000164347:ENST00000509097:exon4:c.A191G:p.N64S,ENSG00000164347:ENST00000509430:exon5:c.A191G:p.N64S Score=397;Name=lod=55 NA 5q13.3 NA NA NA NA rs957680 0.15 0.15 0.168 0.155751 0.1392 0.0208 0.1239 0.3427 0.0818 0.11 0.02 0.15 0.37 0.1285 0.37 0.41 T 0.072 B 0.032 B 0.000 N 0.516 P 0.13 N 0.26 T -1.015 T 0.000 T 0.057 2.065 12.86 -4.89 -1.096 -1.041 13.336 2.06503 2.06503 0.1 0.124186 0.313209 NA 0.246 NA 10.9414474 558 19 2917287 2917287 C A exonic ZNF57 NA nonsynonymous SNV ZNF57:NM_173480:exon4:c.C668A:p.T223N exonic ENSG00000171970 NA nonsynonymous SNV ENSG00000171970:ENST00000306908:exon4:c.C668A:p.T223N,ENSG00000171970:ENST00000523428:exon4:c.C572A:p.T191N NA NA 19p13.3 NA Name=ZNF274 NA NA rs2288958 0.47 0.47 0.431 0.468251 0.4642 0.631 0.5447 0.2398 0.5593 0.47 0.65 0.52 0.23 0.4831 0.65 0.02 D 0.002 B 0.003 B . . 1.000 P 0.77 N 2.43 T -0.962 T 0.000 T 0.029 2.112 13.02 -4.04 -1.718 -2.633 4.722 2.111658 2.111658 0.22 0.447093 0.273264 NA 0.522 NA 10.9389404 558 12 64746833 64746833 C T exonic C12orf56 NA nonsynonymous SNV C12orf56:NM_001099676:exon2:c.G256A:p.D86N,C12orf56:NM_001170633:exon2:c.G256A:p.D86N exonic ENSG00000185306 NA nonsynonymous SNV ENSG00000185306:ENST00000333722:exon2:c.G256A:p.D86N,ENSG00000185306:ENST00000543259:exon2:c.G217A:p.D73N,ENSG00000185306:ENST00000543942:exon2:c.G256A:p.D86N Score=472;Name=lod=111 NA 12q14.2 NA NA NA NA rs73118352 0.15 0.15 0.132 0.165335 0.1372 0.2669 0.1888 0.1014 0.1595 0.14 0.24 0.15 0.07 0.1402 0.24 . . 0.213 B 0.126 B 0.010 N 0.959 P 1.275 L . . -1.063 T 0.000 T 0.07 1.307 10.28 3.83 2.439 2.873 11.539 1.306739 1.306739 0.98 0.11746 0.093561 NA 0.065 NA 10.9384734 558 9 7174673 7174673 G A exonic KDM4C NA nonsynonymous SNV KDM4C:NM_015061:exon22:c.G3115A:p.V1039I exonic ENSG00000107077 NA nonsynonymous SNV ENSG00000107077:ENST00000428870:exon15:c.G2176A:p.V726I,ENSG00000107077:ENST00000442236:exon20:c.G2350A:p.V784I,ENSG00000107077:ENST00000381309:exon22:c.G3115A:p.V1039I Score=459;Name=lod=98 NA 9p24.1 Score=747;Name=V$STAT5A_02 NA NA NA rs913588 0.34 0.34 0.326 0.318291 0.4751 0.1151 0.3919 0.3215 0.3098 0.5 0.13 0.37 0.34 0.4226 0.5 0.25 T 0.278 B 0.057 B 0.005 N 0.000 P -0.695 N 1.37 T -0.987 T 0.000 T 0.129 1.741 11.78 4.74 2.671 2.329 11.194 1.740653 1.740653 0.41 0.497558 0.350885 NA 0.384 NA 10.9380754 558 2 130897218 130897218 T C exonic CCDC74B NA synonymous SNV CCDC74B:NM_001258307:exon8:c.A855G:p.A285A,CCDC74B:NM_207310:exon8:c.A1053G:p.A351A exonic ENSG00000152076 NA synonymous SNV ENSG00000152076:ENST00000392984:exon7:c.A1359G:p.A453A,ENSG00000152076:ENST00000310463:exon8:c.A1053G:p.A351A,ENSG00000152076:ENST00000409943:exon8:c.A855G:p.A285A NA NA 2q21.1 NA NA Name=4 NA rs13006246 0.14 0.14 0.109 0.109625 0.2863 0.0288 0.1873 0.025 0.0706 0.25 0.04 0.22 0.03 0.1835 0.26 0 D . . . . . . 0.000 P . . . . -1.039 T 0.000 T . -1.04 0.207 -9.37 -3.106 -1.147 2.014 -1.039639 NA 0 0.261689 0.066561 NA 0.007 NA 10.9351776 559 11 56431216 56431216 C T exonic OR5AR1 NA stopgain OR5AR1:NM_001004730:exon1:c.C55T:p.Q19X exonic ENSG00000172459 NA stopgain ENSG00000172459:ENST00000302969:exon1:c.C55T:p.Q19X Score=471;Name=lod=109 NA 11q12.1 NA NA NA NA rs11228710 0.62 0.62 0.587 0.623003 0.6879 0.7857 0.7406 0.2716 0.7802 0.68 0.8 0.75 0.24 0.6887 0.8 0.02 D . . . . 0.000 D 0.000 P . . . . . . . . . 3.835 19.48 5.33 2.780 0.906 14.481 3.834831 3.834831 0.01 0.689479 0.337801 NA 0.58 NA 10.933921 560 2 163208893 163208893 T G exonic GCA NA nonsynonymous SNV GCA:NM_012198:exon3:c.T238G:p.S80A exonic ENSG00000115271 NA nonsynonymous SNV ENSG00000115271:ENST00000233612:exon3:c.T181G:p.S61A,ENSG00000115271:ENST00000429691:exon3:c.T181G:p.S61A,ENSG00000115271:ENST00000437150:exon3:c.T238G:p.S80A,ENSG00000115271:ENST00000446271:exon3:c.T316G:p.S106A,ENSG00000115271:ENST00000453113:exon4:c.T181G:p.S61A Score=621;Name=lod=445 NA 2q24.2 NA NA NA NA rs17783344 0.07 0.07 0.057 0.0521166 0.1571 0.003 0.0749 0.0068 0.0399 0.15 0.0017 0.09 0.002 0.1068 0.15 0.42 T 0.001 B 0.006 B 0.066 U 0.009 P 1.39 L -1.06 T -0.994 T 0.003 T 0.216 1.746 11.8 5.19 1.951 1.858 10.265 1.74638 1.74638 0.1 0.145 0.031775 NA 0.051 NA 10.9244334 560 9 33386510 33386510 C T exonic AQP7 NA nonsynonymous SNV AQP7:NM_001170:exon5:c.G298A:p.A100T exonic ENSG00000165269 NA nonsynonymous SNV ENSG00000165269:ENST00000379503:exon2:c.G106A:p.A36T,ENSG00000165269:ENST00000439678:exon2:c.G22A:p.A8T,ENSG00000165269:ENST00000379506:exon3:c.G295A:p.A99T,ENSG00000165269:ENST00000379507:exon3:c.G295A:p.A99T,ENSG00000165269:ENST00000377425:exon4:c.G127A:p.A43T,ENSG00000165269:ENST00000537089:exon4:c.G22A:p.A8T,ENSG00000165269:ENST00000541274:exon4:c.G22A:p.A8T,ENSG00000165269:ENST00000297988:exon5:c.G298A:p.A100T,ENSG00000165269:ENST00000539936:exon5:c.G298A:p.A100T NA NA 9p13.3 Score=722;Name=V$HOX13_01 NA NA NA rs77962308 NA NA 0.23 NA NA NA NA NA NA NA NA NA NA 0.4118 NA 0.42 T 0.022 B 0.077 B 0.001 N 1.000 P . . -2.52 D -0.587 T 0.452 T 0.523 -0.191 3.072 -2.38 -0.529 -1.493 9.755 -0.190807 NA 0.25 NA NA ID=COSM1716043;OCCURENCE=1(small_intestine) NA NA 10.9215334 560 10 12143105 12143105 C G exonic DHTKD1 NA nonsynonymous SNV DHTKD1:NM_018706:exon10:c.C1821G:p.I607M exonic ENSG00000181192 NA nonsynonymous SNV ENSG00000181192:ENST00000263035:exon10:c.C1821G:p.I607M Score=471;Name=lod=109 NA 10p14 Score=921;Name=V$OCT1_06 NA NA NA rs2062988 0.72 0.72 0.727 0.724042 0.8191 0.7054 0.6873 0.5545 0.9008 0.82 0.71 0.73 0.59 0.7788 0.82 0.22 T 0.0 B 0.001 B 0.000 N 0.608 P -1.3 N -2.85 D -1.044 T 0.000 T 0.353 0.86 8.483 5.48 1.336 7.152 14.857 0.860296 NA 1 0.814186 0.601226 NA 0.725 NA 10.9212474 561 6 24463020 24463020 G C exonic GPLD1 NA nonsynonymous SNV GPLD1:NM_001503:exon11:c.C825G:p.D275E exonic ENSG00000112293 NA nonsynonymous SNV ENSG00000112293:ENST00000230036:exon11:c.C825G:p.D275E Score=289;Name=lod=20 NA 6p22.3 NA NA NA NA rs17300770 0.11 0.11 0.084 0.0966454 0.169 0.1022 0.0965 0.0212 0.1186 0.17 0.1 0.1 0.02 0.121 0.17 0.87 T 0.418 B 0.154 B 0.281 N 0.000 P 1.845 L -0.09 T -1.038 T 0.072 T 0.034 -0.168 3.182 4.14 1.506 1.284 5.096 -0.167636 NA 0.47 0.128372 0.037676 NA 0.109 NA 10.9149614 561 6 7374207 7374207 T G exonic CAGE1 NA nonsynonymous SNV CAGE1:NM_205864:exon4:c.A437C:p.E146A,CAGE1:NM_001170692:exon5:c.A845C:p.E282A,CAGE1:NM_001170693:exon5:c.A845C:p.E282A exonic ENSG00000164304 NA nonsynonymous SNV ENSG00000164304:ENST00000296742:exon4:c.A437C:p.E146A,ENSG00000164304:ENST00000338150:exon5:c.A845C:p.E282A,ENSG00000164304:ENST00000379918:exon5:c.A845C:p.E282A,ENSG00000164304:ENST00000458291:exon5:c.A845C:p.E282A,ENSG00000164304:ENST00000502583:exon5:c.A845C:p.E282A,ENSG00000164304:ENST00000512086:exon5:c.A845C:p.E282A,ENSG00000164304:ENST00000512691:exon5:c.A881C:p.E294A NA NA 6p24.3 NA Name=PU.1,ELF1_(SC-631) Name=9 NA rs2876098 0.13 0.13 0.11 0.102436 0.1491 0.1062 0.1455 0.0703 0.0634 0.16 0.11 0.15 0.09 0.1341 0.16 0.06 T 0.908 P 0.453 P 0.154 N 1.000 P 1.735 L 1.33 T -1.094 T 0.047 T 0.138 3.071 16.25 3.23 0.410 0.785 7.542 3.071426 3.071426 0.03 0.142151 0.09165 NA 0.094 NA 10.9079824 561 17 1540106 1540106 G A exonic SCARF1 NA nonsynonymous SNV SCARF1:NM_145350:exon10:c.C1493T:p.S498L exonic ENSG00000074660 NA nonsynonymous SNV ENSG00000074660:ENST00000571272:exon10:c.C1493T:p.S498L Score=552;Name=lod=233 NA 17p13.3 NA NA NA NA rs34849297 0.08 0.08 0.079 0.0527157 0.159 0.001 0.0865 0.0053 0.0368 0.16 NA 0.12 0.01 0.1072 0.16 0.03 D 0.083 B 0.017 B . . 0.000 P . . . . -1.058 T 0.001 T . 2.856 15.51 -2.06 -0.203 -1.417 11.084 2.855703 2.855703 0.04 0.159302 0.031094 NA 0.116 NA 10.9078314 561 5 7885959 7885959 A G exonic MTRR NA nonsynonymous SNV MTRR:NM_002454:exon7:c.A1049G:p.K350R,MTRR:NM_024010:exon7:c.A1130G:p.K377R exonic ENSG00000124275 NA nonsynonymous SNV ENSG00000124275:ENST00000264668:exon7:c.A1130G:p.K377R,ENSG00000124275:ENST00000440940:exon7:c.A1049G:p.K350R Score=423;Name=lod=70 NA 5p15.31 NA NA NA NA rs162036 0.23 0.23 0.218 0.253195 0.1362 0.1687 0.3516 0.4365 0.1431 0.13 0.18 0.31 0.39 0.1711 0.39 0.35 T 0.281 B 0.139 B 0.006 N 0.000 P 2.07 M 1.45 T -0.941 T 0.000 T 0.231 1.635 11.42 -2.24 -0.619 1.230 11.376 1.634585 1.634585 0.07 0.118488 0.377213 NA 0.348 NA 10.9075454 561 3 119150836 119150836 C T exonic TMEM39A NA nonsynonymous SNV TMEM39A:NM_018266:exon9:c.G1459A:p.A487T exonic ENSG00000176142 NA nonsynonymous SNV ENSG00000176142:ENST00000319172:exon9:c.G1459A:p.A487T Score=762;Name=lod=1673 NA 3q13.33 NA NA NA NA rs1132200 0.09 0.09 0.086 0.0886581 0.1441 0.0724 0.0663 0.0083 0.1728 0.14 0.08 0.09 0.01 0.1227 0.16 0.22 T 0.043 B 0.027 B 0.020 N 0.026 P 0 N 0.82 T -1.102 T 0.000 T 0.139 3.021 16.08 5.65 2.941 2.236 14.482 3.021427 3.021427 0.05 0.159572 0.035633 NA 0.051 NA 10.9069614 562 4 83582064 83582064 G T exonic SCD5 NA nonsynonymous SNV SCD5:NM_024906:exon4:c.C736A:p.L246M exonic ENSG00000145284 NA nonsynonymous SNV ENSG00000145284:ENST00000273908:exon4:c.C736A:p.L246M NA NA 4q21.22 NA NA NA NA rs3733228 0.33 0.33 0.283 0.302716 0.2913 0.4762 0.487 0.0794 0.3067 0.3 0.49 0.45 0.1 0.3256 0.49 0.03 D 0.471 P 0.323 B . . 0.012 P . . . . -0.883 T 0.000 T 0.03 0.735 7.902 3.92 2.502 1.546 11.799 0.734689 NA 0 0.311744 0.105311 NA 0.239 NA 10.9046894 562 4 2176454 2176454 G A exonic POLN NA nonsynonymous SNV POLN:NM_181808:exon8:c.C1273T:p.R425C exonic ENSG00000130997 NA nonsynonymous SNV ENSG00000130997:ENST00000382865:exon8:c.C1273T:p.R425C,ENSG00000130997:ENST00000511885:exon10:c.C1273T:p.R425C Score=507;Name=lod=153 NA 4p16.3 NA NA NA NA rs9328764 0.31 0.31 0.312 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 0.1905 0.57 0.31 T 0.0 B 0.001 B 0.008 N 0.999 P 0.745 N 3.0 T -0.974 T 0.000 T 0.395 1.92 12.38 4.48 0.984 1.365 6.711 1.919595 1.919595 0.18 0.115698 0.503858 NA 0.384 NA 10.9028354 562 10 55955610 55955610 C T exonic PCDH15 NA nonsynonymous SNV PCDH15:NM_001142767:exon10:c.G1027A:p.G343S,PCDH15:NM_001142768:exon10:c.G1072A:p.G358S,PCDH15:NM_001142773:exon10:c.G1072A:p.G358S,PCDH15:NM_001142764:exon11:c.G1138A:p.G380S,PCDH15:NM_001142765:exon11:c.G1138A:p.G380S,PCDH15:NM_001142766:exon11:c.G1138A:p.G380S,PCDH15:NM_033056:exon11:c.G1138A:p.G380S,PCDH15:NM_001142763:exon12:c.G1153A:p.G385S exonic ENSG00000150275 NA nonsynonymous SNV ENSG00000150275:ENST00000395432:exon10:c.G1027A:p.G343S,ENSG00000150275:ENST00000395433:exon10:c.G1072A:p.G358S,ENSG00000150275:ENST00000320301:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000361849:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000373955:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000373965:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000395430:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000395438:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000395440:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000395445:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000395446:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000437009:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000448885:exon11:c.G1138A:p.G380S,ENSG00000150275:ENST00000373957:exon13:c.G1072A:p.G358S,ENSG00000150275:ENST00000414778:exon13:c.G1153A:p.G385S Score=432;Name=lod=76 NA 10q21.1 NA NA NA NA rs10825269 0.21 0.21 0.225 0.243211 0.1382 0.0863 0.2104 0.4871 0.2065 0.13 0.09 0.19 0.48 0.1656 0.48 0.93 T 0.017 B 0.004 B . . 0.000 P 0.11 N 2.53 T -0.951 T 0.000 T 0.096 0.328 5.78 5.17 0.823 2.210 10.723 0.328284 NA 0.78 0.128023 0.441897 NA 0.217 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000039695.1|RCV000086940.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.9015104 562 12 49580180 49580180 T C exonic TUBA1A NA synonymous SNV TUBA1A:NM_001270399:exon3:c.A288G:p.K96K,TUBA1A:NM_001270400:exon3:c.A183G:p.K61K,TUBA1A:NM_006009:exon3:c.A288G:p.K96K exonic ENSG00000167552 NA nonsynonymous SNV ENSG00000167552:ENST00000546918:exon2:c.A440G:p.K147R Score=667;Name=lod=686 NA 12q13.12 NA Name=ZNF263 NA NA rs1056875 0.49 0.49 0.496 0.55631 0.3439 0.6925 0.366 0.6952 0.5818 0.32 0.69 0.36 0.61 0.4258 0.69 0 D . . . . 0.000 D 0.000 P . . 0.02 T -0.921 T 0.000 T . 1.182 9.806 3.41 0.327 0.876 9.420 1.181768 NA NA 0.33 0.66069 NA 0.536 NA 10.9003 562 12 52938497 52938497 A C exonic KRT71 NA nonsynonymous SNV KRT71:NM_033448:exon9:c.T1391G:p.V464G exonic ENSG00000139648 NA nonsynonymous SNV ENSG00000139648:ENST00000267119:exon9:c.T1391G:p.V464G Score=363;Name=lod=40 NA 12q13.13 NA Name=CTCF,c-Myc Name=8 NA rs10783518 0.39 0.39 0.321 0.327276 0.507 0.5 0.4712 0.028 0.2669 0.51 0.47 0.5 0.05 0.4448 0.51 0.41 T 0.0 B 0.0 B 0.019 N 0.943 P -1.04 N -1.41 T -0.923 T 0.000 T 0.094 0.067 4.361 2.61 0.136 2.480 6.539 0.06657 NA 0.37 0.481442 0.095172 NA 0.377 NA 10.9000914 562 7 27196113 27196113 C T exonic HOXA7 NA nonsynonymous SNV HOXA7:NM_006896:exon1:c.G52A:p.A18T exonic ENSG00000122592 NA nonsynonymous SNV ENSG00000122592:ENST00000242159:exon1:c.G52A:p.A18T,ENSG00000122592:ENST00000519842:exon3:c.G52A:p.A18T Score=794;Name=lod=2245 NA 7p15.2 NA Name=TBP,GTF2F1_(RAP-74) Name=73 NA rs2301721 0.66 0.66 0.65 0.618411 0.83 0.8581 0.6499 0.1014 0.8303 0.83 0.84 0.67 0.16 0.7691 0.84 0.41 T 0.08 B 0.015 B 0.001 N 0.016 P 0.55 N 1.58 T -1.013 T 0.000 T 0.262 2.174 13.23 4.34 1.341 2.781 13.662 2.173748 2.173748 0.26 0.835467 0.21 NA 0.601 NA 10.8987664 562 5 149759096 149759096 T C exonic TCOF1 NA nonsynonymous SNV TCOF1:NM_000356:exon16:c.T2429C:p.V810A,TCOF1:NM_001135245:exon16:c.T2429C:p.V810A,TCOF1:NM_001008657:exon17:c.T2660C:p.V887A,TCOF1:NM_001135243:exon17:c.T2660C:p.V887A,TCOF1:NM_001135244:exon17:c.T2660C:p.V887A,TCOF1:NM_001195141:exon17:c.T2660C:p.V887A exonic ENSG00000070814 NA nonsynonymous SNV ENSG00000070814:ENST00000323668:exon16:c.T2429C:p.V810A,ENSG00000070814:ENST00000445265:exon16:c.T2429C:p.V810A,ENSG00000070814:ENST00000377797:exon17:c.T2660C:p.V887A,ENSG00000070814:ENST00000394269:exon17:c.T2660C:p.V887A,ENSG00000070814:ENST00000427724:exon17:c.T2660C:p.V887A,ENSG00000070814:ENST00000439160:exon17:c.T2660C:p.V887A,ENSG00000070814:ENST00000451292:exon17:c.T2660C:p.V887A,ENSG00000070814:ENST00000504761:exon17:c.T2660C:p.V887A,ENSG00000070814:ENST00000513346:exon17:c.T2660C:p.V887A NA NA 5q32 NA NA NA NA rs7713638 0.15 0.15 0.131 0.16274 0.1302 0.1448 0.0937 0.2534 0.1411 0.12 0.1 0.11 0.26 0.1466 0.26 0.34 T 0.0 B 0.004 B 0.723 N 1.000 P 1.185 L -0.04 T -1.093 T 0.000 T 0.247 1.117 9.555 -7.47 -1.851 -4.376 13.724 1.116955 NA 0.34 0.158372 0.255334 NA 0.13 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118610.2;CLNDSDB=.;CLNDSDBID=. 10.8981614 563 17 38028634 38028634 G T exonic ZPBP2 NA nonsynonymous SNV ZPBP2:NM_198844:exon4:c.G452T:p.S151I,ZPBP2:NM_199321:exon5:c.G518T:p.S173I exonic ENSG00000186075 NA nonsynonymous SNV ENSG00000186075:ENST00000583811:exon2:c.G164T:p.S55I,ENSG00000186075:ENST00000377940:exon4:c.G452T:p.S151I,ENSG00000186075:ENST00000348931:exon5:c.G518T:p.S173I Score=513;Name=lod=162 NA 17q12 Score=797;Name=V$GFI1_01 NA NA NA rs11557467 0.41 0.41 0.399 0.379593 0.508 0.2817 0.3862 0.3865 0.3344 0.52 0.31 0.4 0.35 0.4459 0.52 0.02 D 0.295 B 0.266 B 0.005 N 0.973 P 0.345 N 0.57 T -0.920 T 0.000 T 0.316 0.151 4.814 4.4 0.900 3.003 8.372 0.151266 NA 0.11 0.487442 0.326146 NA 0.37 NA 10.8919914 563 13 32371361 32371361 A G exonic RXFP2 NA nonsynonymous SNV RXFP2:NM_001166058:exon16:c.A1738G:p.I580V,RXFP2:NM_130806:exon17:c.A1810G:p.I604V exonic ENSG00000133105 NA nonsynonymous SNV ENSG00000133105:ENST00000380314:exon16:c.A1738G:p.I580V,ENSG00000133105:ENST00000298386:exon17:c.A1810G:p.I604V Score=593;Name=lod=343 NA 13q13.1 NA Name=CTCF Name=105 NA rs17076657 0.15 0.15 0.127 0.139776 0.1551 0.1905 0.1657 0.1021 0.1043 0.15 0.19 0.15 0.11 0.1487 0.19 0.75 T 0.005 B 0.02 B 0.002 N 0.417 P 0.75 N 1.19 T -1.010 T 0.000 T 0.097 1.408 10.64 1.75 0.439 1.108 6.411 1.408258 1.408258 0.33 0.142674 0.149796 NA 0.145 NA 10.8868594 563 7 48311563 48311563 T G exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon17:c.T2300G:p.I767S exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon17:c.T2300G:p.I767S NA NA 7p12.3 NA NA NA NA rs17712293 0.18 0.18 0.163 0.194489 0.1322 0.2153 0.2709 0.1543 0.2372 0.13 0.23 0.25 0.17 0.1728 0.25 0.01 D 0.294 B 0.057 B 0.852 N 1.000 P 1.245 L -2.16 D -1.085 T 0.000 T 0.138 0.703 7.752 3.42 1.029 0.606 7.492 0.70348 NA 0 0.142524 0.161805 NA 0.159 NA 10.8858094 564 7 154379739 154379739 C T intronic DPP6 NA NA NA exonic ENSG00000130226 NA nonsynonymous SNV ENSG00000130226:ENST00000406326:exon6:c.C1007T:p.P336L NA NA 7q36.2 NA NA Name=3 NA rs75213895 0.07 0.07 0.06 0.0830671 0.0954 0.0069 0.2176 0.0681 0.0736 0.09 0.0017 0.18 0.05 0.0909 0.18 0 D 0.0 B 0.0 B . . 1.000 P . . . . -1.004 T 0.000 T 0.028 0.367 5.993 -6.29 -1.780 -1.569 0.953 0.367225 NA 0 0.095681 0.07363 NA 0.08 NA 10.8846857 564 17 80352303 80352303 G A exonic OGFOD3 NA nonsynonymous SNV OGFOD3:NM_175902:exon9:c.C940T:p.P314S exonic ENSG00000181396 NA nonsynonymous SNV ENSG00000181396:ENST00000329197:exon9:c.C940T:p.P314S NA NA 17q25.3 NA Name=ERalpha_a Name=3 NA rs62079523 0.19 0.19 0.179 0.1873 0.325 0.003 0.1974 0.1543 0.273 0.33 0.0017 0.21 0.16 0.2772 0.35 0.04 D 0.648 P 0.127 B 0.001 D 1.000 P . . 1.41 T -0.930 T 0.000 T 0.054 0.714 7.804 -0.635 -0.123 -0.380 3.661 0.714279 NA 0 0.348488 0.191784 NA 0.174 NA 10.8826454 564 5 80631642 80631642 C T exonic ACOT12 NA nonsynonymous SNV ACOT12:NM_130767:exon12:c.G1207A:p.A403T exonic ENSG00000172497 NA nonsynonymous SNV ENSG00000172497:ENST00000307624:exon12:c.G1207A:p.A403T NA NA 5q14.1 Score=987;Name=V$GATA6_01 NA NA NA rs10371 0.12 0.12 0.118 0.120208 0.159 0.002 0.134 0.1815 0.1094 0.15 0.0035 0.14 0.17 0.1359 0.19 0.22 T 0.051 B 0.077 B 0.002 N 0.041 P 0.77 N 1.5 T -1.036 T 0.000 T 0.032 0.609 7.282 4.34 1.275 1.926 11.145 0.609265 NA 0.13 0.156395 0.192692 NA 0.203 NA 10.8820384 564 9 109687403 109687403 A G exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon3:c.A1210G:p.M404V exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000277225:exon3:c.A1210G:p.M404V,ENSG00000148143:ENST00000457913:exon3:c.A1210G:p.M404V Score=646;Name=lod=564 NA 9q31.2 Score=880;Name=V$NKX22_01 NA NA NA rs17723637 0.12 0.12 0.115 0.121406 0.167 0.0804 0.0994 0.0726 0.1984 0.18 0.08 0.12 0.07 0.1386 0.18 . . 0.002 B 0.014 B 0.001 D 0.000 P 0.695 N 3.97 T -0.899 T 0.000 T 0.14 1.32 10.33 0.684 -0.119 1.389 9.001 1.320087 1.320087 0 0.146512 0.079891 ID=COSM150663;OCCURENCE=1(stomach) 0.109 NA 10.8812214 564 12 52639302 52639302 G C exonic KRT7 NA nonsynonymous SNV KRT7:NM_005556:exon7:c.G1091C:p.G364A exonic ENSG00000135480 NA nonsynonymous SNV ENSG00000135480:ENST00000331817:exon7:c.G1091C:p.G364A Score=518;Name=lod=170 NA 12q13.13 NA Name=Pol2,CTCF Name=6 NA rs2608009 0.87 0.87 0.892 0.892173 0.8171 0.9067 0.8458 0.9773 0.8722 0.83 0.89 0.79 0.98 0.8372 0.98 1 T 0.0 B 0.0 B 0.165 N 1.000 P -3.39 N -1.01 T -0.915 T 0.000 T 0.043 0.198 5.066 3.43 1.232 4.688 15.086 0.197835 NA 1 0.802326 0.937131 NA 0.841 NA 10.8767074 564 6 29142064 29142064 A G exonic OR2J2 NA nonsynonymous SNV OR2J2:NM_030905:exon1:c.A652G:p.T218A exonic ENSG00000204700 NA nonsynonymous SNV ENSG00000204700:ENST00000377167:exon1:c.A652G:p.T218A Score=272;Name=lod=17 NA 6p22.1 NA NA NA NA rs3130743 0.36 0.36 0.33 0.316494 0.5149 0.3512 0.4035 0.0408 0.3875 0.54 0.35 0.41 0.04 0.4506 0.54 0.01 D . . . . . . 1.000 P 3.935 H 1.22 T -0.825 T 0.167 T 0.021 1.927 12.4 2.0 0.045 1.946 6.152 1.926755 1.926755 0.01 0.492157 0.115484 NA 0.239 NA 10.8756764 565 22 46656479 46656479 A G exonic PKDREJ NA nonsynonymous SNV PKDREJ:NM_006071:exon1:c.T2741C:p.L914P exonic ENSG00000130943 NA nonsynonymous SNV ENSG00000130943:ENST00000253255:exon1:c.T2741C:p.L914P Score=376;Name=lod=45 NA 22q13.31 NA NA NA NA rs6519993 0.22 0.22 0.24 0.245407 0.16 0.001 0.134 0.6785 0.0787 0.15 NA 0.15 0.63 0.1597 0.63 1 T 0.0 B 0.0 B 0.015 N 0.186 P -1.555 N 1.52 T -0.950 T 0.000 T 0.092 -0.561 1.467 5.33 1.411 4.073 13.324 -0.560725 NA 1 0.146047 0.601453 NA 0.304 NA 10.8675864 565 4 186111639 186111639 T C exonic KIAA1430 NA nonsynonymous SNV KIAA1430:NM_020827:exon2:c.A712G:p.T238A exonic ENSG00000164323 NA nonsynonymous SNV ENSG00000164323:ENST00000296775:exon2:c.A712G:p.T238A,ENSG00000164323:ENST00000458385:exon2:c.A712G:p.T238A,ENSG00000164323:ENST00000514798:exon2:c.A712G:p.T238A NA NA 4q35.1 NA Name=eGFP-GATA2,GATA-1 Name=2 NA rs1133657 0.47 0.47 0.456 0.430511 0.4771 0.5823 0.5159 0.2489 0.411 0.46 0.61 0.48 0.29 0.4797 0.61 0.16 T 0.061 B 0.023 B 0.004 N 1.000 P 0.69 N 1.59 T -0.953 T 0.000 T 0.011 0.372 6.022 4.35 1.020 3.595 11.184 0.372441 NA 0.32 0.511125 0.29621 NA 0.529 NA 10.8654084 566 11 1858572 1858572 C T exonic SYT8 NA nonsynonymous SNV SYT8:NM_138567:exon9:c.C1117T:p.R373W exonic ENSG00000149043 NA nonsynonymous SNV ENSG00000149043:ENST00000341958:exon8:c.C1075T:p.R359W,ENSG00000149043:ENST00000381968:exon9:c.C1117T:p.R373W Score=443;Name=lod=84 NA 11p15.5 Score=842;Name=V$HEN1_01 Name=CTCF NA NA rs2292474 0.39 0.39 0.367 0.384984 0.498 0.378 0.415 0.1679 0.5481 0.5 0.4 0.45 0.17 0.4903 0.5 1 T 0.0 B 0.0 B . . 0.000 P -3.275 N 3.77 T -0.948 T 0.000 T 0.368 -0.659 1.107 2.68 0.174 3.304 8.520 -0.659353 NA 1 0.480756 0.208372 NA 0.326 NA 10.8642774 566 6 160113872 160113872 A G exonic SOD2 NA nonsynonymous SNV SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A exonic ENSG00000112096 NA nonsynonymous SNV ENSG00000112096:ENST00000337404:exon2:c.T47C:p.V16A,ENSG00000112096:ENST00000367054:exon2:c.T47C:p.V16A,ENSG00000112096:ENST00000367055:exon2:c.T47C:p.V16A,ENSG00000112096:ENST00000444946:exon2:c.T47C:p.V16A,ENSG00000112096:ENST00000452684:exon2:c.T47C:p.V16A,ENSG00000112096:ENST00000535561:exon2:c.T116C:p.V39A,ENSG00000112096:ENST00000538183:exon2:c.T47C:p.V16A,ENSG00000112096:ENST00000545162:exon2:c.T116C:p.V39A,ENSG00000112096:ENST00000546260:exon2:c.T47C:p.V16A NA NA 6q25.3 NA Name=Pol2,c-Myc,Sin3Ak-20 Name=100 NA rs4880 0.37 0.37 0.358 0.410743 0.4662 0.125 0.5836 0.4236 0.5082 0.46 0.11 0.54 0.41 0.5024 0.54 0.73 T 0.024 B 0.014 B 0.003 N 0.812 P . . 2.8 T -0.931 T 0.008 T 0.209 1.174 9.777 3.08 0.205 2.565 9.062 1.174329 NA 0.81 0.500465 0.419655 NA 0.37 CLINSIG=non-pathogenic|other;CLNDBN=SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes_6;CLNREVSTAT=single|single;CLNACC=RCV000015872.1|RCV000015873.1;CLNDSDB=.|MedGen:OMIM;CLNDSDBID=.|CN031984:612634 10.8642684 566 11 100933412 100933412 C A exonic PGR NA nonsynonymous SNV PGR:NM_000926:exon4:c.G1978T:p.V660L,PGR:NM_001202474:exon4:c.G1486T:p.V496L,PGR:NM_001271162:exon4:c.G196T:p.V66L exonic ENSG00000082175 NA nonsynonymous SNV ENSG00000082175:ENST00000528960:exon3:c.G1861T:p.V621L,ENSG00000082175:ENST00000325455:exon4:c.G1978T:p.V660L,ENSG00000082175:ENST00000534013:exon4:c.G196T:p.V66L,ENSG00000082175:ENST00000534780:exon4:c.G1978T:p.V660L Score=448;Name=lod=88 NA 11q22.1 NA NA NA NA rs1042838 0.09 0.09 0.084 0.0714856 0.1789 0.0099 0.1369 0.0061 0.0665 0.19 0.01 0.15 0.01 0.1258 0.19 0.32 T 0.006 B 0.004 B 0.357 N 0.000 P 1.38 L -1.67 D -1.017 T 0.001 T 0.049 1.681 11.58 4.49 2.512 0.674 5.311 1.681111 1.681111 0.09 0.164419 0.029959 NA 0.101 NA 10.8642144 566 7 30831082 30831082 C T exonic FAM188B NA nonsynonymous SNV FAM188B:NM_032222:exon5:c.C965T:p.T322M exonic ENSG00000106125 NA nonsynonymous SNV ENSG00000106125:ENST00000265299:exon5:c.C965T:p.T322M NA NA 7p14.3 NA Name=CTCF Name=7 NA rs12701034 0.46 0.46 0.441 0.502995 0.4801 0.1627 0.4424 0.8048 0.5123 0.48 0.17 0.46 0.75 0.4887 0.76 0 D 0.012 B 0.003 B 0.347 N 1.000 P 0 N 4.1 T -1.027 T 0.000 T 0.046 0.684 7.655 -2.83 -0.654 -1.912 1.041 0.683653 NA 0.03 0.50262 0.76395 NA 0.406 NA 10.8619134 566 19 10670184 10670184 C G exonic KRI1 NA nonsynonymous SNV KRI1:NM_023008:exon12:c.G1063C:p.E355Q exonic ENSG00000129347 NA nonsynonymous SNV ENSG00000129347:ENST00000361821:exon11:c.G1051C:p.E351Q,ENSG00000129347:ENST00000312962:exon12:c.G1063C:p.E355Q Score=546;Name=lod=221 NA 19p13.2 NA NA NA NA rs3826709 0.62 0.62 0.621 0.622204 0.4523 0.755 0.6441 0.7247 0.5061 0.47 0.77 0.59 0.73 0.5405 0.77 0.1 T 0.187 B 0.069 B 0.000 D 0.006 P 1.82 L 1.2 T -1.021 T 0.000 T 0.164 1.832 12.08 4.97 2.306 4.333 17.055 1.83156 1.83156 0.17 0.478721 0.707898 NA 0.522 NA 10.8618124 566 21 43187167 43187167 G C exonic RIPK4 NA nonsynonymous SNV RIPK4:NM_020639:exon1:c.C35G:p.A12G exonic ENSG00000183421 NA nonsynonymous SNV ENSG00000183421:ENST00000332512:exon1:c.C35G:p.A12G,ENSG00000183421:ENST00000352483:exon1:c.C35G:p.A12G Score=490;Name=lod=131 NA 21q22.3 NA Name=GABP,TAF1,Pol2,JunD,HA-E2F1,Pol2-4H8,HEY1,ZEB1_(SC-25388),TBP NA NA rs6586239 0.12 0.12 0.127 0.122604 0.1561 NA 0.1095 0.2073 0.1094 0.16 NA 0.12 0.21 0.1602 0.21 1 T 0.0 B 0.0 B 0.002 N 0.000 P -2.19 N 2.42 T -0.944 T 0.000 T 0.074 1.037 9.236 3.68 0.548 4.871 12.165 1.0371 NA 1 0.158042 0.178832 ID=COSM1414217,COSM1414218;OCCURENCE=1(large_intestine) 0.014 NA 10.8589914 566 2 71351403 71351403 C A exonic MCEE NA nonsynonymous SNV MCEE:NM_032601:exon2:c.G311T:p.R104L exonic ENSG00000124370 NA nonsynonymous SNV ENSG00000124370:ENST00000244217:exon2:c.G311T:p.R104L,ENSG00000124370:ENST00000494660:exon2:c.G26T:p.R9L,ENSG00000124370:ENST00000486135:exon3:c.G26T:p.R9L NA NA 2p13.3 Score=756;Name=V$PAX6_01 NA NA NA rs6748672 0.17 0.17 0.16 0.201478 0.1342 0.2282 0.1729 0.2277 0.228 0.14 0.18 0.17 0.22 0.1743 0.23 0.03 D 0.01 B 0.005 B 0.322 N 1.000 P 0.255 N -0.1 T -1.081 T 0.000 T 0.056 1.241 10.04 -4.61 -1.053 0.803 6.804 1.241494 1.241494 0.04 0.168488 0.227644 NA 0.203 NA 10.8563454 566 1 75214441 75214441 A G exonic TYW3 NA nonsynonymous SNV TYW3:NM_001162916:exon3:c.A262G:p.M88V,TYW3:NM_138467:exon4:c.A361G:p.M121V exonic ENSG00000162623 NA nonsynonymous SNV ENSG00000162623:ENST00000457880:exon3:c.A262G:p.M88V,ENSG00000162623:ENST00000370867:exon4:c.A361G:p.M121V Score=361;Name=lod=39 NA 1p31.1 NA NA NA NA rs1133891 0.33 0.33 0.302 0.359225 0.1262 0.7063 0.317 0.2496 0.4192 0.14 0.7 0.27 0.22 0.2399 0.7 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.195 N 1.84 T -0.958 T 0.005 T 0.068 -0.963 0.319 5.03 1.528 5.631 14.423 -0.962859 NA 1 0.11186 0.224013 NA 0.246 NA 10.8553734 567 8 125463250 125463250 T C exonic TRMT12 NA nonsynonymous SNV TRMT12:NM_017956:exon1:c.T82C:p.W28R exonic ENSG00000183665 NA nonsynonymous SNV ENSG00000183665:ENST00000328599:exon1:c.T82C:p.W28R,ENSG00000183665:ENST00000522518:exon1:c.T82C:p.W28R Score=383;Name=lod=48 NA 8q24.13 NA Name=Pol2,NFKB,AP-2gamma,Pol2-4H8,ELK4 Name=3 NA rs3812475 0.55 0.55 0.52 0.571086 0.495 0.4415 0.4798 0.7814 0.5634 0.5 0.42 0.52 0.8 0.5124 0.8 1 T 0.0 B 0.0 B 0.024 N 1.000 P -2.045 N 1.13 T -0.963 T 0.000 T 0.054 -0.892 0.456 5.15 1.515 0.518 10.538 -0.891521 NA 1 0.471977 0.694734 NA 0.5 NA 10.8539564 567 5 176637576 176637576 T C exonic NSD1 NA nonsynonymous SNV NSD1:NM_022455:exon5:c.T2176C:p.S726P,NSD1:NM_172349:exon6:c.T1369C:p.S457P exonic ENSG00000165671 NA nonsynonymous SNV ENSG00000165671:ENST00000361032:exon2:c.T1867C:p.S623P,ENSG00000165671:ENST00000439151:exon5:c.T2176C:p.S726P,ENSG00000165671:ENST00000347982:exon6:c.T1369C:p.S457P,ENSG00000165671:ENST00000354179:exon6:c.T1369C:p.S457P NA NA 5q35.3 NA NA NA NA rs28932178 0.24 0.24 0.221 0.249601 0.1441 0.5119 0.2233 0.1059 0.3006 0.15 0.51 0.2 0.1 0.1987 0.51 . . 0.999 D 0.929 D 0.125 N 1.000 P 0.695 N -3.14 D -1.012 T 0.000 T 0.049 0.945 8.852 1.28 0.130 0.397 4.185 0.944892 NA 0.07 0.138488 0.102587 NA 0.225 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082108.1;CLNDSDB=.;CLNDSDBID=. 10.8520454 567 6 13801615 13801615 T C exonic MCUR1 NA nonsynonymous SNV MCUR1:NM_001031713:exon4:c.A646G:p.T216A exonic ENSG00000050393 NA nonsynonymous SNV ENSG00000050393:ENST00000379170:exon4:c.A646G:p.T216A Score=516;Name=lod=167 NA 6p23 Score=783;Name=V$STAT5A_02 NA NA NA rs3180196 0.16 0.16 0.129 0.1248 0.1779 0.3026 0.0879 0.0068 0.0726 0.18 0.28 0.12 0.01 0.1523 0.28 0.75 T 0.267 B 0.055 B 0.007 N 0.000 P 0.145 N 1.02 T -1.022 T 0.018 T 0.026 1.771 11.88 3.97 0.874 2.978 8.555 1.771192 1.771192 0.4 0.152594 0.03406 ID=COSM150055;OCCURENCE=1(stomach) 0.116 NA 10.8505394 567 11 124189729 124189729 C T exonic OR8D2 NA nonsynonymous SNV OR8D2:NM_001002918:exon1:c.G365A:p.R122H exonic ENSG00000197263 NA nonsynonymous SNV ENSG00000197263:ENST00000357438:exon1:c.G365A:p.R122H Score=472;Name=lod=110 NA 11q24.2 NA NA NA NA rs2512219 0.24 0.24 0.259 0.277556 0.1292 0.1895 0.2003 0.4531 0.3384 0.13 0.22 0.2 0.46 0.2068 0.46 0 D 0.001 B 0.001 B 0.028 N 0.305 P 2.53 M -1.1 T -1.006 T 0.000 T 0.038 0.938 8.823 1.61 0.473 5.273 9.523 0.938032 NA 0.02 0.14829 0.423217 NA 0.355 NA 10.8490434 568 3 182897920 182897920 A G exonic MCF2L2 NA nonsynonymous SNV MCF2L2:NM_015078:exon28:c.T3044C:p.M1015T exonic ENSG00000053524 NA nonsynonymous SNV ENSG00000053524:ENST00000328913:exon28:c.T3044C:p.M1015T,ENSG00000053524:ENST00000473233:exon28:c.T3044C:p.M1015T NA NA 3q27.1 NA Name=ZNF263 NA NA rs35070271 0.22 0.22 0.201 0.190495 0.171 0.3056 0.3559 0.0953 0.1033 0.18 0.33 0.3 0.1 0.1821 0.33 0.58 T 0.0 B 0.0 B 0.110 N 1.000 P 0.55 N 4.7 T -0.913 T 0.000 T 0.095 0.749 7.97 -3.98 -1.047 -0.999 10.751 0.748863 NA 0.68 0.135349 0.123922 NA 0.283 NA 10.8448844 568 17 79089590 79089590 A G exonic BAIAP2 NA nonsynonymous SNV BAIAP2:NM_001144888:exon14:c.A1556G:p.Q519R,BAIAP2:NM_017451:exon14:c.A1556G:p.Q519R exonic ENSG00000175866 NA nonsynonymous SNV ENSG00000175866:ENST00000392411:exon12:c.A1322G:p.Q441R,ENSG00000175866:ENST00000321300:exon14:c.A1556G:p.Q519R,ENSG00000175866:ENST00000428708:exon14:c.A1556G:p.Q519R Score=397;Name=lod=55 NA 17q25.3 NA NA NA NA rs4969391 0.19 0.19 0.146 0.172324 0.1561 0.1478 0.3631 0.1059 0.1687 0.16 0.16 0.31 0.17 0.1823 0.31 0.27 T 0.0 B 0.001 B 0.405 N 0.000 P -0.205 N 1.13 T -1.032 T 0.000 T 0.216 2.343 13.79 4.96 1.862 4.516 8.529 2.343165 2.343165 0.33 0.154651 0.117113 ID=COSM1387194;OCCURENCE=1(large_intestine) 0.181 NA 10.8402824 568 9 139110654 139110654 C T exonic QSOX2 NA synonymous SNV QSOX2:NM_181701:exon8:c.G957A:p.K319K exonic ENSG00000165661 NA synonymous SNV ENSG00000165661:ENST00000358701:exon8:c.G957A:p.K319K Score=329;Name=lod=29 NA 9q34.3 NA Name=CTCF,Rad21 NA NA rs12684650 0.17 0.17 0.162 0.153155 0.2873 0.121 0.2075 0.0098 0.2035 0.29 0.13 0.21 0.02 0.2442 0.3 . . . . . . . . 0.000 P . . . . -1.031 T 0.000 T . 0.262 5.417 3.96 1.032 1.654 10.232 0.262043 NA NA 0.296744 0.062869 NA 0.123 NA 10.8384226 568 1 7913029 7913029 A G exonic UTS2 NA nonsynonymous SNV UTS2:NM_006786:exon1:c.T35C:p.I12T exonic ENSG00000049247 NA nonsynonymous SNV ENSG00000049247:ENST00000361696:exon1:c.T35C:p.I12T,ENSG00000049247:ENST00000377516:exon2:c.T35C:p.I12T NA NA 1p36.23 NA Name=GATA2_(CG2-96) Name=11 NA rs34305100 0.11 0.11 0.078 0.0830671 0.1839 0.0357 0.0994 0.0635 0.0429 0.18 0.03 0.12 0.06 0.1355 0.18 0.17 T 0.091 B 0.039 B 0.061 N 1.000 P 1.15 L 1.15 T -1.065 T 0.000 T 0.081 1.517 11.02 2.83 0.370 1.875 4.342 1.517424 1.517424 0.08 0.177442 0.074898 NA 0.101 NA 10.8364914 568 15 42643529 42643529 T C exonic GANC NA nonsynonymous SNV GANC:NM_198141:exon23:c.T2534C:p.F845S exonic ENSG00000214013 NA nonsynonymous SNV ENSG00000214013:ENST00000566690:exon5:c.T161C:p.F54S,ENSG00000214013:ENST00000567596:exon5:c.T161C:p.F54S,ENSG00000214013:ENST00000318010:exon23:c.T2534C:p.F845S Score=346;Name=lod=34 NA 15q15.1 NA NA NA NA rs7181742 0.28 0.28 0.297 0.378395 0.1332 0.1577 0.3847 0.7405 0.364 0.12 0.13 0.33 0.68 0.2251 0.68 1 T 0.0 B 0.0 B 0.027 N 0.000 P -1.585 N -2.03 D -0.925 T 0.000 T 0.454 1.363 10.48 3.48 0.677 2.048 4.157 1.362931 1.362931 1 0.138986 0.627099 NA 0.319 NA 10.8360474 568 22 42537271 42537271 T C ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA nonsynonymous SNV ENSG00000205702:ENST00000435101:exon3:c.A26G:p.Y9C NA NA 22q13.2 NA NA NA NA rs28510588 0.24 0.24 0.17 0.261981 0.3131 0.2669 0.3617 0.025 0.454 0.3 0.27 0.36 0.03 0.3516 0.36 0 D 1.0 D 0.992 D 0.272 N 0.999 P . . -1.0 T -0.743 T 0.000 T . 2.469 14.22 -6.81 -1.750 0.132 15.808 2.468957 2.468957 0 NA NA NA 0.13 NA 10.8353 569 11 48347124 48347124 A G exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.A632G:p.E211G exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.A632G:p.E211G Score=378;Name=lod=46 NA 11p11.2 NA NA NA NA rs79019124 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4993 0.3 0.07 T 0.0 B 0.001 B 0.002 N 0.954 N 1.6 L 8.62 T -1.005 T 0.001 T 0.4 2.266 13.54 4.65 1.046 1.362 10.016 2.266344 2.266344 0.05 NA NA NA 0.268 NA 10.8340334 569 4 38933859 38933859 G A exonic FAM114A1 NA nonsynonymous SNV FAM114A1:NM_138389:exon12:c.G1327A:p.V443I exonic ENSG00000197712 NA nonsynonymous SNV ENSG00000197712:ENST00000515037:exon10:c.G706A:p.V236I,ENSG00000197712:ENST00000358869:exon12:c.G1327A:p.V443I Score=534;Name=lod=198 NA 4p14 NA NA NA NA rs17429619 0.13 0.13 0.111 0.108826 0.1551 0.0764 0.2046 0.0507 0.1053 0.17 0.08 0.2 0.07 0.1652 0.2 1 T 0.012 B 0.007 B 0.002 N 0.004 P 0.63 N 3.05 T -0.982 T 0.000 T 0.032 -0.784 0.718 4.38 1.435 1.397 3.702 -0.784474 NA 0.86 0.17907 0.078075 NA 0.036 NA 10.8339634 569 1 24417415 24417415 T C exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon12:c.A1304G:p.Q435R exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon12:c.A1304G:p.Q435R,ENSG00000142661:ENST00000330966:exon12:c.A1307G:p.Q436R,ENSG00000142661:ENST00000374434:exon12:c.A1304G:p.Q435R Score=358;Name=lod=38 NA 1p36.11 NA NA NA NA rs6700245 0.12 0.12 0.121 0.169529 0.1759 0.003 0.1311 0.239 0.2679 0.15 0.0035 0.16 0.18 0.1634 0.2 0.61 T 0.003 B 0.021 B 0.074 N 0.000 P 0.27 N 0.44 T -1.052 T 0.000 T 0.042 1.752 11.82 3.03 2.007 1.310 3.636 1.751658 1.751658 0.11 0.160458 0.197776 NA 0.159 NA 10.8335754 569 1 144865850 144865850 G T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_014644:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_001198832:exon37:c.C5412A:p.D1804E exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon35:c.C5730A:p.D1910E,ENSG00000178104:ENST00000369356:exon35:c.C5730A:p.D1910E,ENSG00000178104:ENST00000313382:exon37:c.C5412A:p.D1804E,ENSG00000178104:ENST00000530740:exon37:c.C5985A:p.D1995E,ENSG00000178104:ENST00000369359:exon38:c.C6138A:p.D2046E Score=448;Name=lod=88 NA 1q21.1 NA NA Name=20 NA rs1613780 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 1 T 0.0 B 0.0 B . . 1.000 D -2.045 N 5.35 T -0.963 T 0.007 T 0.209 -0.992 0.272 3.3 0.078 0.393 4.602 -0.992159 NA 1 NA NA NA 0.5 NA 10.8333334 569 1 144886197 144886197 A T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_014644:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_001198832:exon26:c.T3235A:p.F1079I exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon23:c.T3037A:p.F1013I,ENSG00000178104:ENST00000369356:exon23:c.T3037A:p.F1013I,ENSG00000178104:ENST00000313382:exon26:c.T3235A:p.F1079I,ENSG00000178104:ENST00000369359:exon26:c.T3448A:p.F1150I,ENSG00000178104:ENST00000530740:exon26:c.T3448A:p.F1150I Score=518;Name=lod=170 NA 1q21.1 NA Name=PU.1 NA NA rs1698624 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.55 T 0.0 B 0.0 B . . 0.972 D -0.345 N 5.01 T -1.018 T 0.001 T 0.29 -1.049 0.196 -2.45 -0.810 -0.328 2.677 -1.049274 NA 1 NA NA NA 0.5 NA 10.8333334 569 11 48346916 48346916 G C exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.G424C:p.V142L exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.G424C:p.V142L NA NA 11p11.2 Score=740;Name=V$PPARG_01 NA NA NA rs77069283 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.24 0.18 T 0.001 B 0.012 B 0.006 N 1.000 N 1.525 L 3.49 T -1.033 T 0.020 T 0.663 1.913 12.35 4.87 1.493 1.564 12.531 1.912807 1.912807 0.15 NA NA ID=COSM1180649;OCCURENCE=1(upper_aerodigestive_tract) 0.225 NA 10.8333334 569 13 98829175 98829175 C G exonic RNF113B NA nonsynonymous SNV RNF113B:NM_178861:exon1:c.G316C:p.E106Q exonic ENSG00000139797 NA nonsynonymous SNV ENSG00000139797:ENST00000267291:exon1:c.G316C:p.E106Q Score=702;Name=lod=953 NA 13q32.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71 T 0.804 P 0.446 B 0.002 U 1.000 N 1.045 L 1.49 T -1.027 T 0.050 T 0.074 2.047 12.8 1.16 0.936 4.951 8.184 2.046654 2.046654 0.65 NA NA NA NA NA 10.8333334 569 8 53586706 53586706 A G exonic RB1CC1 NA nonsynonymous SNV RB1CC1:NM_001083617:exon7:c.T701C:p.M234T,RB1CC1:NM_014781:exon7:c.T701C:p.M234T exonic ENSG00000023287 NA nonsynonymous SNV ENSG00000023287:ENST00000539297:exon5:c.T701C:p.M234T,ENSG00000023287:ENST00000025008:exon7:c.T701C:p.M234T,ENSG00000023287:ENST00000435644:exon7:c.T701C:p.M234T Score=671;Name=lod=714 NA 8q11.23 Score=872;Name=V$EVI1_04 NA NA NA rs17337252 0.55 0.55 0.5 0.502995 0.5 0.8393 0.6095 0.2088 0.4816 0.51 0.84 0.59 0.23 0.511 0.84 0.67 T 0.0 B 0.0 B 0.310 N 0.963 P -0.69 N 2.63 T -1.034 T 0.000 T 0.136 1.013 9.138 2.99 0.976 2.354 3.679 1.013096 NA 0.56 0.489651 0.254653 NA 0.587 NA 10.8326824 569 7 100608370 100608370 A C intergenic ACHE,MUC12 dist=114829;dist=4534 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000422757:exon5:c.A575C:p.E192A,ENSG00000169894:ENST00000319509:exon6:c.A2105C:p.E702A Score=272;Name=lod=17 NA 7q22.1 NA NA Name=2 NA rs73714276 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5007 0.41 0.32 T 0.675 P 0.294 B . . 0.974 N 1.4 L 3.08 T -1.058 T 0.027 T 0.277 2.806 15.34 2.09 1.200 1.884 6.166 2.806029 2.806029 0.07 NA NA ID=COSM1599879,COSM1599880;OCCURENCE=1(central_nervous_system) 0.406 NA 10.8326334 569 7 142637601 142637601 T C exonic C7orf34 NA nonsynonymous SNV C7orf34:NM_178829:exon2:c.T371C:p.V124A exonic ENSG00000165131 NA nonsynonymous SNV ENSG00000165131:ENST00000409607:exon2:c.T371C:p.V124A NA NA 7q34 NA NA NA NA rs148010864 0.0009 0.0009 NA 0.000798722 NA NA 0.0029 0.0015 NA NA NA 0.0028 0.002 0.0005 0.0028 0.01 D 0.597 P 0.199 B 0.003 N 1.000 N 0.69 N . . -1.054 T 0.053 T 0.503 1.655 11.49 3.33 0.846 2.330 7.163 1.65483 1.65483 0.03 0.000698 0.000227 NA NA NA 10.8321354 569 2 73315604 73315604 C T exonic RAB11FIP5 NA nonsynonymous SNV RAB11FIP5:NM_015470:exon3:c.G1142A:p.R381H exonic ENSG00000135631 NA nonsynonymous SNV ENSG00000135631:ENST00000258098:exon3:c.G1142A:p.R381H NA NA 2p13.2 NA NA NA NA rs199517071 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.00008307 0.0026 0.34 T 0.998 D 0.747 P 0.258 N 1.000 N 1.61 L 0.91 T -1.032 T 0.126 T 0.351 2.298 13.64 3.28 1.074 0.087 5.835 2.298396 2.298396 0.58 NA NA NA NA NA 10.8312503 569 12 121593936 121593936 C T exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon3:c.C349T:p.R117W exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000261826:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000377162:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000535600:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000541022:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000541564:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000541716:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000546057:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000535250:exon4:c.C79T:p.R27W NA NA 12q24.31 NA NA Name=3 NA rs28360445 0.0018 0.0018 NA 0.000998403 0.002 NA 0.0043 NA NA 0.0013 NA 0.01 NA 0.0013 0.01 0 D 0.976 D 0.657 P 0.544 N 1.000 N 0 N 3.64 T -0.944 T 0.008 T 0.426 1.1 9.489 -1.17 -0.427 -0.106 5.973 1.100292 NA 0 0.001977 0.000454 NA NA NA 10.8280564 569 2 96993757 96993757 C T exonic ITPRIPL1 NA nonsynonymous SNV ITPRIPL1:NM_178495:exon1:c.C1412T:p.T471M,ITPRIPL1:NM_001163523:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001163524:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001008949:exon3:c.C1388T:p.T463M exonic ENSG00000198885 NA nonsynonymous SNV ENSG00000198885:ENST00000361124:exon1:c.C1412T:p.T471M,ENSG00000198885:ENST00000536814:exon2:c.C1364T:p.T455M,ENSG00000198885:ENST00000542887:exon2:c.C1364T:p.T455M,ENSG00000198885:ENST00000439118:exon3:c.C1388T:p.T463M NA NA 2q11.2 NA NA NA NA rs2279105 0.27 0.27 0.293 0.360623 0.3191 0.2312 0.3141 0.2421 0.7301 0.32 0.21 0.31 0.22 0.351 0.34 0.12 T 0.998 D 0.664 P 0.045 N 1.000 P 0.205 N 3.11 T -0.727 T 0.000 T 0.399 2.276 13.57 5.5 2.861 2.765 18.332 2.275854 2.275854 0.02 0.335233 0.249433 NA 0.196 NA 10.8280004 569 5 171765882 171765882 C T exonic SH3PXD2B NA nonsynonymous SNV SH3PXD2B:NM_001017995:exon13:c.G2227A:p.V743M exonic ENSG00000174705 NA nonsynonymous SNV ENSG00000174705:ENST00000311601:exon13:c.G2227A:p.V743M NA NA 5q35.1 Score=714;Name=V$P53_01 NA NA NA rs141103005 0.0009 0.0009 NA 0.00239617 0.003 NA NA NA 0.0092 0.0026 NA NA NA 0.0013 0.0026 . . 0.53 P 0.059 B 0.052 N 1.000 N 0.695 N 0.13 T -1.055 T 0.083 T 0.026 -0.597 1.33 -4.75 -0.916 1.183 1.810 -0.59705 NA 0.06 0.001279 0.000454 NA 0.043 NA 10.8277544 569 5 67588148 67588148 G A exonic PIK3R1 NA nonsynonymous SNV PIK3R1:NM_181504:exon2:c.G168A:p.M56I,PIK3R1:NM_181524:exon2:c.G78A:p.M26I,PIK3R1:NM_181523:exon8:c.G978A:p.M326I exonic ENSG00000145675 NA nonsynonymous SNV ENSG00000145675:ENST00000320694:exon2:c.G78A:p.M26I,ENSG00000145675:ENST00000336483:exon2:c.G168A:p.M56I,ENSG00000145675:ENST00000522084:exon3:c.G168A:p.M56I,ENSG00000145675:ENST00000523807:exon4:c.G168A:p.M56I,ENSG00000145675:ENST00000274335:exon7:c.G978A:p.M326I,ENSG00000145675:ENST00000396611:exon7:c.G978A:p.M326I,ENSG00000145675:ENST00000521381:exon8:c.G978A:p.M326I,ENSG00000145675:ENST00000521657:exon8:c.G978A:p.M326I Score=634;Name=lod=503 NA 5q13.1 NA NA NA NA rs3730089 0.22 0.22 0.199 0.220447 0.167 0.1657 0.2133 0.416 0.0726 0.16 0.16 0.21 0.38 0.1742 0.38 0.28 T 0.0 B 0.0 B 0.000 N 0.000 P 1.32 L 1.99 T -1.011 T 0.000 T 0.218 1.519 11.03 4.25 1.498 4.509 15.363 1.519262 1.519262 0.51 0.164535 0.382206 NA 0.188 NA 10.8275984 569 19 5783515 5783515 G A exonic PRR22 NA nonsynonymous SNV PRR22:NM_001134316:exon3:c.C743T:p.P248L exonic ENSG00000212123 NA nonsynonymous SNV ENSG00000212123:ENST00000419421:exon3:c.C743T:p.P248L NA NA 19p13.3 NA Name=Pol2,Pol2-4H8 NA NA rs34572934 0.0014 0.0014 0.002 0.000998403 0.003 NA 0.0029 NA NA 0.0026 NA 0.0028 NA 0.0016 0.0028 0.17 T 0.999 D 0.889 P . . 1.000 N 0.975 L -0.04 T -0.890 T 0.246 T 0.213 2.499 14.32 2.36 0.717 0.436 7.774 2.4991 2.4991 0.02 0.002461 0.002537 NA 0.036 NA 10.8262724 569 2 71360431 71360431 G A exonic MPHOSPH10 NA nonsynonymous SNV MPHOSPH10:NM_005791:exon2:c.G493A:p.V165I exonic ENSG00000124383 NA nonsynonymous SNV ENSG00000124383:ENST00000244230:exon2:c.G493A:p.V165I,ENSG00000124383:ENST00000498451:exon2:c.G493A:p.V165I NA NA 2p13.3 NA NA NA NA rs150757204 0.0009 0.0009 NA 0.000998403 0.003 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0017 0.0031 0.18 T 0.753 P 0.195 B 0.622 N 1.000 N 1.355 L 2.93 T -1.042 T 0.028 T 0.017 1.763 11.85 4.16 2.528 1.821 10.848 1.762625 1.762625 0.27 0.00314 0.000227 NA NA NA 10.8254934 569 1 156641746 156641746 C G exonic NES NA nonsynonymous SNV NES:NM_006617:exon4:c.G2234C:p.R745T exonic ENSG00000132688 NA nonsynonymous SNV ENSG00000132688:ENST00000368223:exon4:c.G2234C:p.R745T NA NA 1q23.1 NA NA NA NA rs140652000 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0032 0.0041 0 D 0.915 P 0.321 B . . 1.000 N 1.525 L -2.27 D -0.647 T 0.294 T 0.094 2.044 12.79 -3.54 -0.414 -0.784 7.417 2.043651 2.043651 0 0.00407 0 NA NA NA 10.8250634 570 5 121413208 121413208 C T exonic LOX NA nonsynonymous SNV LOX:NM_002317:exon1:c.G473A:p.R158Q exonic ENSG00000113083 NA nonsynonymous SNV ENSG00000113083:ENST00000231004:exon1:c.G473A:p.R158Q Score=617;Name=lod=428 NA 5q23.2 Score=927;Name=V$ZIC1_01 NA NA NA rs1800449 0.17 0.17 0.151 0.156749 0.162 0.1875 0.1599 0.1437 0.135 0.15 0.2 0.17 0.15 0.1728 0.2 0.73 T 0.0 B 0.0 B 0.218 N 1.000 P 1.5 L 1.97 T -0.976 T 0.000 T 0.143 -0.27 2.703 2.41 -0.042 -0.034 9.841 -0.270433 NA 0.42 0.173761 0.178425 ID=COSM448489;OCCURENCE=1(breast) 0.13 CLINSIG=non-pathogenic;CLNDBN=LYSYL_OXIDASE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000015437.1;CLNDSDB=.;CLNDSDBID=. 10.8247724 570 4 75695301 75695301 G A exonic BTC NA nonsynonymous SNV BTC:NM_001729:exon2:c.C130T:p.L44F exonic ENSG00000174808 NA nonsynonymous SNV ENSG00000174808:ENST00000395743:exon2:c.C130T:p.L44F NA NA 4q13.3 NA NA NA NA rs56320257 0.03 0.03 0.026 0.0285543 NA NA 0.0115 0.1021 NA NA NA 0.01 0.11 0.0092 0.11 0.3 T 0.986 D 0.744 P 0.023 N 1.000 N 1.355 L 2.81 T -1.036 T 0.001 T 0.154 2.144 13.13 2.27 0.640 1.497 5.981 2.144133 2.144133 0.07 0.000814 0.102133 NA 0.051 NA 10.8233194 570 12 7945640 7945640 G T exonic NANOG NA nonsynonymous SNV NANOG:NM_024865:exon2:c.G246T:p.K82N exonic ENSG00000111704 NA nonsynonymous SNV ENSG00000111704:ENST00000229307:exon2:c.G246T:p.K82N,ENSG00000111704:ENST00000526286:exon2:c.G246T:p.K82N,ENSG00000111704:ENST00000541267:exon4:c.G174T:p.K58N NA NA 12p13.31 NA NA NA NA rs2889551 0.33 0.33 0.306 NA NA NA NA NA NA 0.52 0.04 0.48 0.27 0.5104 0.52 0.48 T 0.0 B 0.001 B 0.031 N 1.000 P -0.345 N -2.89 D -1.054 T 0.000 T 0.07 0.426 6.311 -8.46 -2.317 -2.719 8.235 0.425557 NA 0.25 NA NA NA 0.442 NA 10.8229334 570 15 64970496 64970496 C T exonic ZNF609 NA nonsynonymous SNV ZNF609:NM_015042:exon5:c.C3584T:p.T1195M exonic ENSG00000180357 NA nonsynonymous SNV ENSG00000180357:ENST00000326648:exon5:c.C3584T:p.T1195M NA NA 15q22.31 NA NA NA NA rs146522359 0.0009 0.0009 NA 0.00139776 0.004 NA 0.0029 0.0008 NA 0.0026 NA NA NA 0.0022 0.011 0.08 T 0.567 P 0.092 B 0.311 N 1.000 N 0.345 N 0.94 T -1.039 T 0.062 T 0.108 1.999 12.64 5.62 2.640 2.921 12.937 1.999185 1.999185 0.02 0.004652 0.001362 NA 0.007 NA 10.8224814 570 6 29912333 29912333 C T exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon5:c.C952T:p.L318F,HLA-A:NM_002116:exon5:c.C952T:p.L318F exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376806:exon5:c.C952T:p.L318F,ENSG00000206503:ENST00000376809:exon5:c.C952T:p.L318F,ENSG00000206503:ENST00000396634:exon7:c.C952T:p.L318F NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs3179982 0.53 0.53 0.511 0.535343 0.5229 0.4881 0.6023 0.6044 0.456 0.51 0.48 0.54 0.62 0.5252 0.62 0 D 0.998 D 0.995 D 0.189 U 1.000 P . . 5.49 T -0.913 T 0.004 T 0.174 -0.025 3.888 -0.987 -0.224 -2.297 6.412 -0.024559 NA 0.32 0.464747 0.524188 NA 0.232 NA 10.8204864 570 11 60777073 60777073 G A exonic CD6 NA nonsynonymous SNV CD6:NM_001254750:exon5:c.G811A:p.A271T,CD6:NM_001254751:exon5:c.G811A:p.A271T,CD6:NM_006725:exon5:c.G811A:p.A271T exonic ENSG00000013725 NA nonsynonymous SNV ENSG00000013725:ENST00000313421:exon5:c.G811A:p.A271T,ENSG00000013725:ENST00000344028:exon5:c.G811A:p.A271T,ENSG00000013725:ENST00000344931:exon5:c.G811A:p.A271T,ENSG00000013725:ENST00000346437:exon5:c.G811A:p.A271T,ENSG00000013725:ENST00000352009:exon5:c.G811A:p.A271T,ENSG00000013725:ENST00000452451:exon5:c.G811A:p.A271T NA NA 11q12.2 NA Name=CTCF,CTCF_(SC-5916) NA NA rs12360861 0.1 0.1 0.076 0.0766773 0.1938 0.001 0.121 0.0401 0.0521 0.2 0.0017 0.14 0.04 0.1385 0.2 0.61 T 0.069 B 0.013 B 0.143 N 1.000 P 0.12 N 1.34 T -1.095 T 0.000 T 0.013 -0.547 1.521 -9.81 -2.169 -7.571 5.943 -0.546883 NA 0.56 0.18167 0.060599 ID=COSM1561314,COSM1561313;OCCURENCE=1(large_intestine) 0.174 NA 10.8193634 570 2 29226512 29226512 A G exonic FAM179A NA nonsynonymous SNV FAM179A:NM_199280:exon6:c.A794G:p.Q265R exonic ENSG00000189350 NA nonsynonymous SNV ENSG00000189350:ENST00000379558:exon6:c.A794G:p.Q265R,ENSG00000189350:ENST00000403861:exon6:c.A794G:p.Q265R Score=289;Name=lod=20 NA 2p23.2 NA NA NA NA rs12623297 0.78 0.78 0.771 0.744808 0.839 0.8274 0.8098 0.5998 0.7127 0.82 0.81 0.81 0.64 0.8124 0.86 0.11 T 0.999 D 0.994 D . . 0.973 P 1.04 L 2.43 T -1.159 T 0.000 T 0.188 2.674 14.9 5.16 1.950 4.415 11.387 2.673574 2.673574 0.09 0.863735 0.657252 NA 0.855 NA 10.8181984 570 1 152281948 152281948 G A exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C5414T:p.A1805V exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C5414T:p.A1805V NA NA 1q21.3 NA NA NA NA rs12405241 0.26 0.26 0.183 0.28754 0.1421 0.5843 0.3905 0.0113 0.4315 0.15 0.59 0.33 0.02 0.2288 0.59 0.35 T 0.999 D 0.959 D . . 1.000 P 1.555 L 4.62 T -0.975 T 0.004 T 0.016 1.13 9.606 -3.56 -0.903 -5.623 0.762 1.13007 NA 0.6 0.144253 0.036541 NA 0.087 NA 10.8181804 570 5 13894894 13894894 T A exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon16:c.A2296T:p.I766L exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon16:c.A2296T:p.I766L Score=511;Name=lod=159 NA 5p15.2 NA NA NA NA rs4701997 0.44 0.44 0.417 0.487819 0.5 0.249 0.4654 0.5681 0.6288 0.49 0.24 0.48 0.57 0.5073 0.57 0.59 T 0.001 B 0.032 B 0.000 D 0.200 P 1.975 M 0.83 T -0.929 T 0.000 T 0.101 1.635 11.42 4.37 0.935 3.012 8.531 1.634972 1.634972 0.31 0.507907 0.533137 ID=COSM149798;OCCURENCE=1(stomach) 0.457 NA 10.8181264 570 17 39579112 39579112 G A exonic KRT37 NA nonsynonymous SNV KRT37:NM_003770:exon3:c.C650T:p.A217V exonic ENSG00000108417 NA nonsynonymous SNV ENSG00000108417:ENST00000225550:exon3:c.C650T:p.A217V Score=317;Name=lod=26 NA 17q21.2 NA NA NA NA rs16966811 0.18 0.18 0.155 0.173323 0.1759 0.3224 0.1268 0.0378 0.2331 0.18 0.31 0.13 0.05 0.1638 0.31 0.01 D 0.003 B 0.003 B 0.390 N 1.000 P 1.11 L -2.6 D -1.055 T 0.000 T 0.076 1.493 10.94 1.39 0.233 2.537 8.168 1.492672 1.492672 0.01 0.176977 0.057876 NA 0.109 NA 10.8166564 570 20 31757078 31757078 G A exonic BPIFA2 NA nonsynonymous SNV BPIFA2:NM_080574:exon2:c.G127A:p.G43R exonic ENSG00000131050 NA nonsynonymous SNV ENSG00000131050:ENST00000253362:exon2:c.G127A:p.G43R,ENSG00000131050:ENST00000354932:exon2:c.G127A:p.G43R NA NA 20q11.21 NA Name=CTCF,CTCF_(SC-5916) Name=20 NA rs6059139 0.03 0.03 0.036 0.028155 0.005 NA 0.0058 0.0998 NA 0.01 NA 0.01 0.11 0.01 0.11 0.08 T 0.532 P 0.236 B 0.500 N 1.000 P 1.3 L 2.62 T -1.029 T 0.001 T 0.102 -0.212 2.971 2.22 0.707 0.736 6.387 -0.212453 NA 0 0.001977 0.092601 NA 0.029 NA 10.8163564 570 5 135388663 135388663 A G exonic TGFBI NA synonymous SNV TGFBI:NM_000358:exon8:c.A981G:p.V327V exonic ENSG00000120708 NA synonymous SNV ENSG00000120708:ENST00000604555:exon3:c.A213G:p.V71V,ENSG00000120708:ENST00000305126:exon8:c.A981G:p.V327V,ENSG00000120708:ENST00000442011:exon8:c.A981G:p.V327V Score=481;Name=lod=120 NA 5q31.1 NA Name=Pol2 NA NA rs1054124 0.36 0.36 0.365 0.387181 0.2594 0.3433 0.3631 0.5446 0.3681 0.27 0.34 0.34 0.53 0.3213 0.53 . . . . . . . . 0.000 P . . . . -0.902 T 0.000 T . 0.313 5.696 5.65 1.532 5.704 15.162 0.31293 NA NA 0.270146 0.495769 NA 0.341 NA 10.8158206 571 19 35435006 35435006 G A exonic ZNF30 NA nonsynonymous SNV ZNF30:NM_001099437:exon5:c.G1139A:p.R380K,ZNF30:NM_001099438:exon5:c.G1139A:p.R380K,ZNF30:NM_194325:exon5:c.G1136A:p.R379K exonic ENSG00000168661 NA nonsynonymous SNV ENSG00000168661:ENST00000303586:exon5:c.G1139A:p.R380K,ENSG00000168661:ENST00000439785:exon5:c.G1139A:p.R380K,ENSG00000168661:ENST00000601142:exon5:c.G1136A:p.R379K,ENSG00000168661:ENST00000426813:exon6:c.G893A:p.R298K Score=304;Name=lod=23 NA 19q13.11 NA Name=ZNF274,SETDB1 Name=5 NA rs1345658 0.63 0.63 0.662 0.652356 0.5129 0.6002 0.4049 0.9402 0.636 0.51 0.63 0.47 0.94 0.5334 0.94 1 T 0.0 B 0.0 B . . 1.000 P -1.205 N 2.89 T -1.020 T 0.000 T 0.055 -0.793 0.695 2.07 0.080 2.619 5.384 -0.793153 NA 1 0.472784 0.853703 NA 0.645 NA 10.8142494 571 2 135745129 135745129 G A exonic MAP3K19 NA nonsynonymous SNV MAP3K19:NM_025052:exon7:c.C1313T:p.T438I exonic ENSG00000176601 NA nonsynonymous SNV ENSG00000176601:ENST00000358371:exon5:c.C974T:p.T325I,ENSG00000176601:ENST00000375845:exon7:c.C1313T:p.T438I,ENSG00000176601:ENST00000392915:exon7:c.C1364T:p.T455I NA NA 2q21.3 NA NA NA NA rs16831235 0.15 0.15 0.141 0.132388 0.2028 0.122 0.2262 0.0424 0.1258 0.2 0.14 0.21 0.04 0.1567 0.21 0 D 0.942 P 0.504 P 0.059 N 0.962 P 1.32 L 1.84 T -1.094 T 0.000 T 0.106 3.689 18.74 2.11 0.663 2.295 8.471 3.689257 3.689257 0 0.163721 0.064231 NA 0.094 NA 10.8101124 571 3 47452676 47452676 G A exonic PTPN23 NA nonsynonymous SNV PTPN23:NM_015466:exon20:c.G3388A:p.G1130S exonic ENSG00000076201 NA nonsynonymous SNV ENSG00000076201:ENST00000431726:exon19:c.G3010A:p.G1004S,ENSG00000076201:ENST00000265562:exon20:c.G3388A:p.G1130S NA NA 3p21.31 Score=866;Name=V$YY1_01 NA NA NA rs138329311 0.01 0.01 0.005 0.00359425 0.0099 NA 0.0086 0.0008 0.001 0.01 NA 0.01 0.002 0.0078 0.01 0.54 T 0.909 P 0.128 B 0.000 N 1.000 N 0.345 N 3.92 T -0.855 T 0.004 T 0.193 1.034 9.224 2.36 0.611 2.827 8.304 1.03403 NA 0.47 0.009848 0.00117 NA NA NA 10.8057854 572 14 69795199 69795199 G A exonic GALNT16 NA nonsynonymous SNV GALNT16:NM_001168368:exon6:c.G601A:p.V201M,GALNT16:NM_020692:exon6:c.G601A:p.V201M exonic ENSG00000100626 NA nonsynonymous SNV ENSG00000100626:ENST00000337827:exon6:c.G601A:p.V201M,ENSG00000100626:ENST00000448469:exon6:c.G601A:p.V201M,ENSG00000100626:ENST00000553471:exon6:c.G601A:p.V201M,ENSG00000100626:ENST00000553669:exon6:c.G601A:p.V201M Score=343;Name=lod=33 NA 14q24.1 NA NA NA NA rs12879377 0.2 0.2 0.19 0.175519 0.3569 0.1329 0.2032 0.0658 0.1616 0.33 0.14 0.23 0.07 0.2937 0.38 0.24 T 0.476 P 0.039 B 0.018 N 0.144 P 1.64 L 0.12 T -0.950 T 0.000 T 0.197 0.798 8.202 4.49 1.272 2.850 6.000 0.798489 NA 0.15 0.381163 0.10168 NA 0.21 NA 10.8015704 572 6 130031215 130031215 T C exonic ARHGAP18 NA nonsynonymous SNV ARHGAP18:NM_033515:exon1:c.A67G:p.T23A exonic ENSG00000146376 NA nonsynonymous SNV ENSG00000146376:ENST00000368149:exon1:c.A67G:p.T23A Score=588;Name=lod=326 NA 6q22.33 Score=835;Name=V$PPARG_03 Name=HEY1,TBP,TAF1,Pol2,Sin3Ak-20,KAP1,ZNF263,Pol2-4H8 NA NA rs3752536 0.8 0.8 0.792 0.8127 0.835 0.7123 0.8199 0.8253 0.8712 0.85 0.72 0.82 0.8 0.8476 0.88 . . 0.0 B 0.0 B 0.001 N 0.000 P -0.345 N . . -1.043 T 0.024 T 0.023 0.951 8.878 5.88 1.509 1.935 11.269 0.950939 NA 0.88 0.85093 0.8266 NA 0.906 NA 10.7998034 572 4 159601676 159601676 C T exonic ETFDH NA nonsynonymous SNV ETFDH:NM_004453:exon2:c.C92T:p.T31I exonic ENSG00000171503 NA nonsynonymous SNV ENSG00000171503:ENST00000511912:exon2:c.C92T:p.T31I Score=409;Name=lod=61 NA 4q32.1 NA NA NA NA rs11559290 0.72 0.72 0.693 0.672724 0.8638 0.9732 0.7378 0.1452 0.8333 0.86 0.97 0.78 0.18 0.8119 0.97 0.47 T 0.0 B 0.005 B 0.015 N 0.000 P 0.69 N -4.33 D -0.906 T 0.000 T 0.079 1.513 11.01 5.63 2.818 1.121 8.929 1.513167 1.513167 0.31 0.859967 0.259646 NA 0.623 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081080.1;CLNDSDB=.;CLNDSDBID=. 10.7976664 572 17 41223094 41223094 T C exonic BRCA1 NA nonsynonymous SNV BRCA1:NM_007297:exon14:c.A4696G:p.S1566G,BRCA1:NM_007298:exon14:c.A1525G:p.S509G,BRCA1:NM_007294:exon15:c.A4837G:p.S1613G,BRCA1:NM_007299:exon15:c.A1525G:p.S509G,BRCA1:NM_007300:exon16:c.A4900G:p.S1634G exonic ENSG00000012048 NA nonsynonymous SNV ENSG00000012048:ENST00000591534:exon3:c.A310G:p.S104G,ENSG00000012048:ENST00000484087:exon9:c.A1150G:p.S384G,ENSG00000012048:ENST00000351666:exon11:c.A1288G:p.S430G,ENSG00000012048:ENST00000309486:exon14:c.A3949G:p.S1317G,ENSG00000012048:ENST00000352993:exon14:c.A1411G:p.S471G,ENSG00000012048:ENST00000493795:exon14:c.A4696G:p.S1566G,ENSG00000012048:ENST00000493919:exon14:c.A1387G:p.S463G,ENSG00000012048:ENST00000357654:exon15:c.A4837G:p.S1613G,ENSG00000012048:ENST00000468300:exon15:c.A1525G:p.S509G,ENSG00000012048:ENST00000478531:exon15:c.A1525G:p.S509G,ENSG00000012048:ENST00000491747:exon15:c.A1525G:p.S509G,ENSG00000012048:ENST00000471181:exon16:c.A4900G:p.S1634G NA NA 17q21.31 Score=876;Name=V$E47_02 NA NA NA rs1799966 0.33 0.33 0.297 0.355831 0.3598 0.372 0.3746 0.2254 0.498 0.36 0.33 0.4 0.22 0.3496 0.4 0.05 D 0.459 P 0.115 B 0.372 N 1.000 P 1.04 L -1.93 D -1.080 T 0.000 T 0.454 1.652 11.48 1.5 0.128 -0.112 6.894 1.651916 1.651916 0.06 0.326628 0.242624 NA 0.268 CLINSIG=other|untested|probable-non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Neoplastic_Syndromes\x2c_Hereditary,not_provided|Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_1|BRCA1_and_BRCA2_Hereditary_Breast_and_Ovarian_Cancer|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|not|single,mult|not|mult|single|not|single;CLNACC=RCV000031194.3|RCV000048673.2|RCV000130704.1,RCV000034753.2|RCV000048672.4|RCV000112410.2|RCV000119096.1|RCV000120260.1|RCV000128996.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen,.|GeneReviews:MedGen:OMIM:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen|.|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672,.|NBK1247:C0346153:114480:254843006|NBK1247:C2676676:604370:ORPHA145|NBK1247:C0677776|.|C0027672 10.7973054 572 22 51117580 51117580 T C exonic SHANK3 NA nonsynonymous SNV SHANK3:NM_033517:exon6:c.T734C:p.I245T exonic ENSG00000251322 NA nonsynonymous SNV ENSG00000251322:ENST00000262795:exon6:c.T734C:p.I245T,ENSG00000251322:ENST00000414786:exon6:c.T734C:p.I245T,ENSG00000251322:ENST00000445220:exon6:c.T734C:p.I245T Score=649;Name=lod=577 NA 22q13.33 Score=725;Name=V$SEF1_C NA NA NA rs9616915 0.36 0.36 0.361 0.343251 0.5089 0.0754 0.353 0.4077 0.3548 0.51 0.1 0.39 0.4 0.5116 0.52 0.51 T 0.0 B 0.001 B . . 0.999 P 0.78 N 2.07 T -0.935 T 0.000 T 0.102 1.282 10.19 4.65 1.190 1.469 6.717 1.281994 1.281994 0.26 0.517014 0.404448 ID=COSM445196;OCCURENCE=1(breast) 0.312 NA 10.7958194 572 3 9956279 9956279 G A exonic IL17RE NA nonsynonymous SNV IL17RE:NM_001193380:exon14:c.G1417A:p.G473R exonic ENSG00000163701 NA nonsynonymous SNV ENSG00000163701:ENST00000454190:exon14:c.G1417A:p.G473R NA NA 3p25.3 Score=949;Name=V$GATA1_01 NA NA NA rs455863 0.37 0.37 0.377 0.362021 0.5447 0.0933 0.4625 0.4054 0.3211 0.54 0.07 0.46 0.39 0.4609 0.54 0 D 0.0 B 0.0 B . . 0.000 P . . 1.52 T -0.993 T 0.000 T . -0.014 3.94 -9.87 -4.926 -5.110 6.235 -0.014333 NA 0 0.532442 0.415116 NA 0.254 NA 10.7952914 573 5 148747902 148747902 G C exonic PCYOX1L NA nonsynonymous SNV PCYOX1L:NM_024028:exon6:c.G1170C:p.E390D exonic ENSG00000145882 NA nonsynonymous SNV ENSG00000145882:ENST00000514349:exon5:c.G900C:p.E300D,ENSG00000145882:ENST00000274569:exon6:c.G1170C:p.E390D Score=495;Name=lod=137 NA 5q32 NA NA NA NA rs4705336 0.1 0.1 0.069 0.0852636 0.1958 0.001 0.1499 0.0136 0.1094 0.2 NA 0.15 0.02 0.1533 0.2 0.55 T 0.999 D 0.994 D 0.000 D 0.000 P 1.3 L 2.48 T -1.023 T 0.000 T 0.076 3.684 18.72 0.481 -0.223 0.648 5.324 3.684287 3.684287 0.18 0.190116 0.038811 ID=COSM149982;OCCURENCE=1(stomach) 0.058 NA 10.7941174 573 18 6977844 6977844 A G exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon44:c.T6227C:p.I2076T exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon44:c.T6227C:p.I2076T Score=555;Name=lod=240 NA 18p11.31 Score=838;Name=V$OCT1_02 NA NA NA rs671871 0.25 0.25 0.278 0.273962 0.172 0.0893 0.2089 0.6309 0.1329 0.17 0.1 0.2 0.6 0.1947 0.6 0.53 T 0.0 B 0.0 B 0.181 N 1.000 P -1.1 N 1.0 T -0.943 T 0.000 T 0.049 0.291 5.574 2.15 0.209 1.200 5.082 0.290674 NA NA 0.176977 0.544939 NA 0.312 NA 10.7896564 573 9 136029138 136029138 G A exonic GBGT1 NA synonymous SNV GBGT1:NM_021996:exon7:c.C870T:p.G290G exonic ENSG00000148288 NA nonsynonymous SNV ENSG00000148288:ENST00000372043:exon7:c.C851T:p.A284V Score=336;Name=lod=31 NA 9q34.2 NA NA NA NA rs35902535 0.05 0.05 0.062 0.0419329 0.0795 0.002 0.0403 0.0333 0.0573 0.09 0.0035 0.04 0.04 0.059 0.09 0 D . . . . . . 1.000 D . . 1.91 T -1.173 T 0.004 T . 2.022 12.72 2.31 0.542 0.761 5.091 2.02222 2.02222 NA 0.07186 0.045393 NA 0.029 NA 10.78964 573 1 152329435 152329435 C T exonic FLG2 NA nonsynonymous SNV FLG2:NM_001014342:exon3:c.G827A:p.R276Q exonic ENSG00000143520 NA nonsynonymous SNV ENSG00000143520:ENST00000388718:exon3:c.G827A:p.R276Q NA NA 1q21.3 NA NA Name=3 NA rs2282303 0.32 0.32 0.305 0.348243 0.1441 0.502 0.4164 0.3631 0.3313 0.15 0.5 0.36 0.34 0.2407 0.5 0.68 T 0.005 B 0.0 B . . 1.000 P -0.49 N 5.81 T -1.090 T 0.000 T 0.028 -1.684 0.012 3.44 1.051 1.178 7.919 -1.684393 NA 0.85 0.160233 0.325919 NA 0.29 NA 10.7883004 573 20 54941140 54941140 C T exonic FAM210B NA nonsynonymous SNV FAM210B:NM_080821:exon3:c.C376T:p.P126S exonic ENSG00000124098 NA nonsynonymous SNV ENSG00000124098:ENST00000371384:exon3:c.C376T:p.P126S Score=401;Name=lod=57 NA 20q13.2 Score=989;Name=V$P53_02 Name=CTCF NA NA rs6099115 0.21 0.21 0.207 0.229433 0.1938 0.001 0.1484 0.5499 0.1258 0.18 NA 0.16 0.54 0.1805 0.54 0.8 T 0.002 B 0.03 B 0.000 N 1.000 P -0.09 N 1.64 T -0.921 T 0.000 T 0.01 -0.616 1.259 3.28 0.373 0.723 4.021 -0.616284 NA 0.99 0.171163 0.492737 NA 0.232 NA 10.7878704 574 1 209785206 209785206 G A exonic CAMK1G NA nonsynonymous SNV CAMK1G:NM_020439:exon11:c.G985A:p.V329I exonic ENSG00000008118 NA nonsynonymous SNV ENSG00000008118:ENST00000009105:exon11:c.G985A:p.V329I,ENSG00000008118:ENST00000361322:exon11:c.G985A:p.V329I NA NA 1q32.2 Score=809;Name=V$PPARG_03 Name=CTCF,EBF1_(C-8),EBF Name=10 NA rs11119315 0.2 0.2 0.188 0.183107 0.1819 0.1062 0.1859 0.3064 0.0951 0.19 0.13 0.2 0.3 0.1876 0.3 0.19 T 0.008 B 0.006 B 0.110 N 1.000 P 0.205 N -0.3 T -1.076 T 0.000 T 0.055 1.555 11.15 -1.06 -0.529 -1.582 5.383 1.555376 1.555376 0.19 0.179186 0.291421 NA 0.196 NA 10.7846474 574 6 31238942 31238942 G A exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon3:c.C527T:p.A176V,HLA-C:NM_002117:exon3:c.C527T:p.A176V exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon3:c.C527T:p.A176V,ENSG00000204525:ENST00000383329:exon3:c.C527T:p.A176V NA NA 6p21.33 NA Name=Pol2-4H8 NA NA rs2308590 0.56 0.56 NA 0.296725 0.2763 0.244 0.3098 0.3631 0.273 0.52 0.6 0.56 0.58 0.2731 0.6 0.35 T 0.001 B 0.005 B 0.000 N 1.000 N -2.455 N 9.46 T -0.887 T 0.000 T 0.505 -0.725 0.893 -5.62 -4.565 -15.955 2.384 -0.724867 NA 0.22 NA NA NA NA NA 10.7839334 574 1 75175886 75175886 T C exonic CRYZ NA nonsynonymous SNV CRYZ:NM_001134759:exon4:c.A115G:p.I39V,CRYZ:NM_001130043:exon6:c.A526G:p.I176V,CRYZ:NM_001889:exon6:c.A526G:p.I176V,CRYZ:NM_001130042:exon7:c.A526G:p.I176V exonic ENSG00000116791 NA nonsynonymous SNV ENSG00000116791:ENST00000370872:exon4:c.A115G:p.I39V,ENSG00000116791:ENST00000340866:exon6:c.A526G:p.I176V,ENSG00000116791:ENST00000370871:exon6:c.A526G:p.I176V,ENSG00000116791:ENST00000441120:exon6:c.A526G:p.I176V,ENSG00000116791:ENST00000370870:exon7:c.A526G:p.I176V,ENSG00000116791:ENST00000417775:exon7:c.A526G:p.I176V Score=564;Name=lod=262 NA 1p31.1 NA NA NA NA rs3819946 0.42 0.42 0.419 0.460663 0.1421 0.7669 0.3386 0.525 0.4724 0.16 0.78 0.31 0.48 0.2799 0.78 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.375 N 4.15 T -0.946 T 0.004 T 0.139 -0.009 3.968 5.54 1.488 4.095 11.738 -0.0089 NA 1 0.130581 0.448933 NA 0.326 NA 10.7807524 574 9 37441650 37441650 T C exonic ZBTB5 NA nonsynonymous SNV ZBTB5:NM_014872:exon2:c.A899G:p.D300G exonic ENSG00000168795 NA nonsynonymous SNV ENSG00000168795:ENST00000307750:exon2:c.A899G:p.D300G Score=397;Name=lod=55 NA 9p13.2 NA NA NA NA rs17502738 0.11 0.11 0.107 0.0936502 0.2097 0.0099 0.1124 0.0393 0.1207 0.22 0.01 0.14 0.05 0.1545 0.22 0.34 T 0.0 B 0.0 B 0.009 N 0.781 P 0.55 N 3.0 T -0.927 T 0.000 T 0.028 1.544 11.11 5.65 2.371 3.664 10.362 1.543531 1.543531 0.02 0.191628 0.056287 NA 0.232 NA 10.7775054 574 11 111749349 111749349 A T exonic FDXACB1 NA nonsynonymous SNV FDXACB1:NM_138378:exon2:c.T260A:p.I87N exonic ENSG00000255561,ENSG00000258529 NA nonsynonymous SNV ENSG00000255561:ENST00000260257:exon2:c.T260A:p.I87N,ENSG00000258529:ENST00000524880:exon2:c.T260A:p.I87N Score=490;Name=lod=131 NA 11q23.1 NA Name=CTCF,Rad21,TCF4 Name=18 NA rs611010 0.91 0.91 0.917 0.92472 0.832 0.9712 0.9049 0.9425 0.9622 0.84 0.99 0.89 0.94 0.8895 0.99 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.63 N 2.03 T -0.942 T 0.000 T 0.15 1.398 10.61 6.17 1.157 5.877 13.065 1.397531 1.397531 1 0.834755 0.9192 NA 0.906 NA 10.7770784 574 1 216172380 216172380 A G exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon34:c.T6506C:p.I2169T exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon34:c.T6506C:p.I2169T,ENSG00000042781:ENST00000366943:exon34:c.T6506C:p.I2169T Score=407;Name=lod=60 NA 1q41 NA NA NA NA rs10864219 0.59 0.59 0.582 0.59345 0.497 0.8343 0.6513 0.4206 0.637 0.5 0.85 0.62 0.43 0.5567 0.85 0.65 T 0.094 B 0.016 B 0.589 N 0.000 P -0.55 N 0.66 T -0.984 T 0.000 T 0.074 0.866 8.51 5.77 2.199 2.395 11.547 0.866247 NA 0.19 0.502674 0.438493 NA 0.551 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041888.1|RCV000126249.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.7769594 574 9 110084328 110084328 C T exonic RAD23B NA nonsynonymous SNV RAD23B:NM_001244713:exon7:c.C683T:p.A228V,RAD23B:NM_001244724:exon7:c.C530T:p.A177V,RAD23B:NM_002874:exon7:c.C746T:p.A249V exonic ENSG00000119318 NA nonsynonymous SNV ENSG00000119318:ENST00000358015:exon7:c.C746T:p.A249V,ENSG00000119318:ENST00000416373:exon7:c.C530T:p.A177V Score=586;Name=lod=322 NA 9q31.2 NA NA NA NA rs1805329 0.17 0.17 0.13 0.152756 0.1789 0.2014 0.3055 0.0076 0.1636 0.21 0.19 0.24 0.02 0.1953 0.24 0.28 T 0.299 B 0.091 B 0.288 N 0.945 P 0.695 N 2.08 T -0.913 T 0.000 T 0.064 3.455 17.7 5.28 2.626 3.697 19.280 3.455281 3.455281 0.09 0.183372 0.049024 NA 0.138 NA 10.7757614 575 5 151771852 151771852 G A exonic NMUR2 NA nonsynonymous SNV NMUR2:NM_020167:exon4:c.C1148T:p.P383L exonic ENSG00000132911 NA nonsynonymous SNV ENSG00000132911:ENST00000255262:exon4:c.C1148T:p.P383L NA NA 5q33.1 NA NA NA NA rs4958532 0.13 0.13 0.105 0.122804 0.2038 0.0258 0.2954 0.0121 0.1667 0.21 0.04 0.27 0.01 0.1745 0.27 0.11 T 0.02 B 0.012 B 0.012 N 0.625 P 1.935 M -0.42 T -1.083 T 0.000 T 0.085 0.587 7.167 3.38 1.101 3.298 11.493 0.586858 NA 0.01 0.18093 0.053336 NA 0.152 NA 10.7741034 575 6 32629963 32629963 C T exonic HLA-DQB1 NA nonsynonymous SNV HLA-DQB1:NM_001243961:exon3:c.G442A:p.V148I,HLA-DQB1:NM_002123:exon3:c.G442A:p.V148I exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000399082:exon2:c.G172A:p.V58I,ENSG00000179344:ENST00000374943:exon3:c.G442A:p.V148I,ENSG00000179344:ENST00000399079:exon3:c.G442A:p.V148I,ENSG00000179344:ENST00000434651:exon3:c.G442A:p.V148I,ENSG00000179344:ENST00000399084:exon4:c.G442A:p.V148I Score=395;Name=lod=54 NA 6p21.32 NA NA NA NA rs1049100 0.2 0.2 0.172 0.213059 0.2008 0.244 0.1527 0.2284 0.2157 0.22 0.16 0.19 0.24 0.1957 0.24 0 D 0.027 B 0.055 B 0.012 N 0.929 P 1.55 L 4.09 T -1.002 T 0.005 T 0.375 2.166 13.2 3.64 2.065 0.196 6.057 2.166325 2.166325 0.02 0.163917 0.197016 NA 0.174 NA 10.7729164 575 20 47258763 47258763 C T exonic PREX1 NA nonsynonymous SNV PREX1:NM_020820:exon29:c.G3718A:p.V1240I exonic ENSG00000124126 NA nonsynonymous SNV ENSG00000124126:ENST00000371941:exon29:c.G3718A:p.V1240I,ENSG00000124126:ENST00000396220:exon29:c.G3718A:p.V1240I Score=393;Name=lod=53 NA 20q13.13 NA NA NA NA rs16993997 0.14 0.14 0.115 0.150759 0.1849 0.1528 0.2133 0.0182 0.2485 0.18 0.15 0.22 0.02 0.1899 0.22 0.17 T 0.005 B 0.008 B 0.308 U 0.995 P 0.49 N 1.21 T -1.044 T 0.000 T 0.173 1.512 11.01 3.47 1.292 2.936 10.657 1.512329 1.512329 0.14 0.188721 0.056968 NA 0.123 NA 10.7698124 575 2 74699778 74699778 C A exonic MRPL53 NA nonsynonymous SNV MRPL53:NM_053050:exon1:c.G10T:p.A4S exonic ENSG00000204822 NA nonsynonymous SNV ENSG00000204822:ENST00000258105:exon1:c.G10T:p.A4S,ENSG00000204822:ENST00000409710:exon1:c.G10T:p.A4S NA NA 2p13.1 Score=845;Name=V$RFX1_02 Name=Max,c-Myc,CCNT2,ELF1_(SC-631),NFKB,HEY1,BCL3,NF-YB,PAX5-N19,PAX5-C20,SRF,SETDB1,SIX5,Oct-2,THAP1_(SC-98174),p300,TCF12,USF-1,TBP,GTF2F1_(RAP-74),CEBPB,RXRA,CHD2_(N-1250),FOSL2,Pol2(b),TAF1,E2F6_(H-50),ETS1,ELK4,POU2F2,HMGN3,USF2,GABP,Pol2,NRSF,Mxi1_(bHLH),PU.1,YY1,Pol2(phosphoS2),Ini1,Egr-1,Sin3Ak-20,YY1_(C-20),MEF2A,HDAC2_(SC-6296),KAP1,Pol2-4H8,TR4,E2F6 Name=148 NA rs1047911 0.5 0.5 0.508 0.516773 0.1581 0.8214 0.3098 0.8064 0.3272 0.16 0.83 0.27 0.8 0.268 0.83 0.82 T 0.0 B 0.0 B 0.077 N 1.000 P 0.345 N 0.76 T -0.964 T 0.000 T 0.058 0.188 5.013 2.26 0.280 0.255 3.604 0.188132 NA 0.1 0.138055 0.70631 NA 0.413 NA 10.7691784 575 2 85893741 85893741 G A exonic SFTPB NA nonsynonymous SNV SFTPB:NM_000542:exon5:c.C428T:p.T143I,SFTPB:NM_198843:exon5:c.C428T:p.T143I exonic ENSG00000168878 NA nonsynonymous SNV ENSG00000168878:ENST00000519937:exon4:c.C392T:p.T131I,ENSG00000168878:ENST00000342375:exon5:c.C392T:p.T131I,ENSG00000168878:ENST00000393822:exon5:c.C428T:p.T143I,ENSG00000168878:ENST00000409383:exon5:c.C428T:p.T143I Score=371;Name=lod=43 NA 2p11.2 NA Name=ZNF263 Name=6 NA rs1130866 0.51 0.51 0.543 0.519968 0.5388 0.2639 0.4193 0.8018 0.455 0.53 0.28 0.44 0.78 0.5037 0.78 0.9 T 0.0 B 0.001 B 0.149 N 0.151 P -1.795 N -0.69 T -0.949 T 0.000 T 0.254 -1.964 0.007 3.33 0.561 3.237 6.990 -1.963919 NA 1 0.524884 0.743305 NA 0.587 NA 10.7659494 575 10 129905896 129905896 T A exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.A3128T:p.E1043V,MKI67:NM_002417:exon13:c.A4208T:p.E1403V exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.A3128T:p.E1043V,ENSG00000148773:ENST00000368654:exon13:c.A4208T:p.E1403V NA NA 10q26.2 NA NA NA NA rs3740423 0.16 0.16 0.126 0.139976 0.1958 0.1181 0.281 0.0098 0.181 0.2 0.15 0.29 0.01 0.1888 0.29 0.15 T 1.0 D 0.994 D . . 1.000 P 1.7 L 3.42 T -0.945 T 0.000 T 0.16 2.392 13.96 2.66 0.650 -1.195 4.090 2.391928 2.391928 0.02 0.183023 0.030867 ID=COSM146355;OCCURENCE=1(stomach) 0.109 NA 10.7657104 576 6 46135489 46135489 T C exonic ENPP5 NA nonsynonymous SNV ENPP5:NM_021572:exon2:c.A511G:p.I171V exonic ENSG00000112796 NA nonsynonymous SNV ENSG00000112796:ENST00000230565:exon2:c.A511G:p.I171V,ENSG00000112796:ENST00000371383:exon3:c.A511G:p.I171V Score=567;Name=lod=270 NA 6p21.1 NA NA NA NA rs6926570 0.42 0.42 0.399 0.444489 0.5308 0.4494 0.4467 0.1899 0.6933 0.53 0.4 0.49 0.19 0.5128 0.53 0.46 T 0.379 B 0.241 B 0.000 D 0.003 P 1.08 L -0.66 T -0.860 T 0.156 T 0.205 2.903 15.67 5.33 2.145 7.618 15.624 2.903331 2.903331 0.33 0.529767 0.236269 NA 0.399 NA 10.7599664 576 4 123145751 123145751 T A exonic KIAA1109 NA synonymous SNV KIAA1109:NM_015312:exon21:c.T2712A:p.P904P exonic ENSG00000138688 NA synonymous SNV ENSG00000138688:ENST00000449251:exon3:c.T336A:p.P112P,ENSG00000138688:ENST00000388738:exon21:c.T2712A:p.P904P,ENSG00000138688:ENST00000455637:exon21:c.T2712A:p.P904P,ENSG00000138688:ENST00000264501:exon23:c.T2712A:p.P904P Score=696;Name=lod=897 NA 4q27 Score=774;Name=V$STAT5A_02 Name=CTCF Name=29 NA rs7658836 0.26 0.26 0.222 0.273762 0.2913 0.3562 0.3055 0.0408 0.4632 0.3 0.34 0.3 0.05 0.3132 0.34 . . . . . . . . 0.000 P . . . . -0.987 T 0.000 T . 1.177 9.787 3.87 0.892 0.023 9.020 1.176902 NA NA 0.302314 0.085329 ID=COSM1131285;OCCURENCE=1(prostate) 0.174 NA 10.7598526 576 1 2444414 2444414 G A exonic PANK4 NA nonsynonymous SNV PANK4:NM_018216:exon13:c.C1640T:p.A547V exonic ENSG00000157881 NA nonsynonymous SNV ENSG00000157881:ENST00000502512:exon3:c.C203T:p.A68V,ENSG00000157881:ENST00000378466:exon13:c.C1640T:p.A547V,ENSG00000157881:ENST00000435556:exon13:c.C1523T:p.A508V NA NA 1p36.32 NA NA NA NA rs7535528 0.28 0.28 0.256 0.225639 0.3867 0.3046 0.2983 0.0136 0.2137 0.38 0.35 0.32 0.02 0.3141 0.38 0.02 D 0.769 P 0.119 B 0.364 N 1.000 P 1.585 L 3.19 T -0.867 T 0.000 T 0.359 1.822 12.05 5.59 2.635 3.927 18.568 1.822331 1.822331 0.03 0.374826 0.07172 NA 0.196 NA 10.7577074 576 9 115968797 115968797 C T exonic FKBP15 NA nonsynonymous SNV FKBP15:NM_015258:exon4:c.G316A:p.A106T exonic ENSG00000119321 NA nonsynonymous SNV ENSG00000119321:ENST00000238256:exon4:c.G316A:p.A106T,ENSG00000119321:ENST00000414250:exon4:c.G391A:p.A131T,ENSG00000119321:ENST00000446284:exon4:c.G391A:p.A131T Score=611;Name=lod=406 NA 9q32 Score=741;Name=V$MYOGNF1_01 NA NA NA rs1133618 0.18 0.18 0.2 0.190096 0.2078 0.0228 0.2161 0.3298 0.137 0.22 0.02 0.21 0.3 0.177 0.3 0.69 T 0.006 B 0.015 B . . 0.988 P 0.175 N 0.97 T -0.957 T 0.000 T 0.058 0.345 5.87 2.84 0.329 1.143 6.322 0.344614 NA 0.59 0.191169 0.277573 NA 0.196 NA 10.7573644 577 19 9006749 9006749 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon44:c.G39499A:p.V13167M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon44:c.G39499A:p.V13167M NA NA 19p13.2 NA NA NA NA rs75444444 0.17 0.17 0.201 0.198283 0.1889 0.1399 0.1153 0.2859 0.2086 0.19 0.1 0.12 0.28 0.1957 0.28 0 D 0.932 P 0.539 P . . . . 1.575 L 0.97 T -1.003 T 0.000 T 0.088 0.45 6.442 -3.6 -0.648 -3.453 3.475 0.449704 NA 0.1 0.193813 0.252196 NA 0.254 NA 10.7549204 577 11 6541225 6541225 C G exonic DNHD1 NA nonsynonymous SNV DNHD1:NM_173589:exon8:c.C1678G:p.Q560E,DNHD1:NM_144666:exon9:c.C1678G:p.Q560E exonic ENSG00000179532 NA nonsynonymous SNV ENSG00000179532:ENST00000527990:exon7:c.C1678G:p.Q560E,ENSG00000179532:ENST00000354685:exon8:c.C1678G:p.Q560E,ENSG00000179532:ENST00000254579:exon9:c.C1678G:p.Q560E NA NA 11p15.4 Score=1000;Name=V$AP4_Q6 NA NA NA rs11603869 0.13 0.13 0.127 0.142572 0.1909 0.0327 0.1628 0.1233 0.2178 0.2 0.04 0.14 0.13 0.1748 0.21 1 T 0.372 B 0.083 B 0.615 N 1.000 P 0.975 L 2.79 T -1.052 T 0.000 T 0.104 1.42 10.69 3.63 1.401 1.531 9.850 1.420306 1.420306 0.06 0.214153 0.123807 NA 0.225 NA 10.7534804 577 6 144852201 144852201 G A exonic UTRN NA nonsynonymous SNV UTRN:NM_007124:exon41:c.G5920A:p.A1974T exonic ENSG00000152818 NA nonsynonymous SNV ENSG00000152818:ENST00000367545:exon41:c.G5920A:p.A1974T Score=343;Name=lod=33 NA 6q24.2 NA NA NA NA rs12204734 0.1 0.1 0.098 0.128794 0.2018 0.0605 0.0965 0.0068 0.3119 0.19 0.06 0.12 0.01 0.1819 0.2 0.06 T 0.002 B 0.004 B 0.005 N 0.000 P 1.79 L 1.14 T -1.076 T 0.038 T 0.088 1.975 12.56 3.62 1.296 1.641 5.997 1.975171 1.975171 0.13 0.196163 0.034498 NA 0.101 NA 10.7534704 577 8 143833850 143833850 G A exonic LYPD2 NA nonsynonymous SNV LYPD2:NM_205545:exon1:c.C20T:p.A7V exonic ENSG00000197353 NA nonsynonymous SNV ENSG00000197353:ENST00000359228:exon1:c.C20T:p.A7V NA NA 8q24.3 NA NA NA NA rs11775636 0.24 0.24 0.256 0.249601 0.1899 0.4018 0.1628 0.205 0.2761 0.2 0.4 0.16 0.21 0.2128 0.4 0.66 T 0.002 B 0.001 B 0.084 N 1.000 P 0.13 N -1.6 D -1.097 T 0.000 T 0.007 -0.584 1.377 -8.41 -1.930 -2.198 8.505 -0.58438 NA 1 0.179777 0.20945 NA 0.21 NA 10.7508564 577 3 195615376 195615376 A G exonic TNK2 NA synonymous SNV TNK2:NM_001010938:exon2:c.T273C:p.D91D,TNK2:NM_005781:exon2:c.T84C:p.D28D exonic ENSG00000061938 NA synonymous SNV ENSG00000061938:ENST00000316664:exon2:c.T84C:p.D28D,ENSG00000061938:ENST00000333602:exon2:c.T84C:p.D28D,ENSG00000061938:ENST00000381916:exon2:c.T273C:p.D91D,ENSG00000061938:ENST00000392400:exon2:c.T84C:p.D28D,ENSG00000061938:ENST00000428187:exon2:c.T180C:p.D60D,ENSG00000061938:ENST00000439230:exon2:c.T84C:p.D28D,ENSG00000061938:ENST00000447060:exon2:c.T84C:p.D28D,ENSG00000061938:ENST00000427576:exon3:c.T276C:p.D92D,ENSG00000061938:ENST00000433111:exon4:c.T84C:p.D28D Score=638;Name=lod=523 NA 3q29 Score=900;Name=V$CREBP1CJUN_01 Name=NRSF NA NA rs3747669 0.42 0.42 0.446 0.442692 0.2922 0.4583 0.4164 0.6694 0.2935 0.29 0.43 0.36 0.66 0.3383 0.66 . . . . . . . . 0.000 P . . . . -1.095 T 0.000 T . -0.792 0.697 -5.99 -1.458 -0.816 16.029 -0.792193 NA NA 0.286279 0.593509 NA 0.391 NA 10.7498876 577 22 26422980 26422980 A G exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon43:c.A7040G:p.Q2347R exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000335473:exon43:c.A7040G:p.Q2347R,ENSG00000133454:ENST00000407587:exon43:c.A7043G:p.Q2348R,ENSG00000133454:ENST00000536101:exon43:c.A7040G:p.Q2347R NA NA 22q12.1 NA NA NA NA rs2236005 0.35 0.35 0.384 0.426318 0.174 0.244 0.2522 0.9107 0.3425 0.16 0.24 0.23 0.86 0.257 0.86 1 T 0.0 B 0.0 B 0.051 N 1.000 P -1.935 N -1.86 D -0.944 T 0.000 T 0.117 -2.419 0.003 3.78 1.056 2.406 4.701 -2.419485 NA 1 0.153967 0.768236 NA 0.514 NA 10.7483664 577 16 3447282 3447282 C G UTR5 ZSCAN32 NM_017810:c.-7158G>C NA NA exonic ENSG00000140987 NA nonsynonymous SNV ENSG00000140987:ENST00000396846:exon1:c.G276C:p.E92D,ENSG00000140987:ENST00000573719:exon1:c.G276C:p.E92D,ENSG00000140987:ENST00000574940:exon1:c.G276C:p.E92D,ENSG00000140987:ENST00000396852:exon2:c.G276C:p.E92D,ENSG00000140987:ENST00000571906:exon2:c.G276C:p.E92D,ENSG00000140987:ENST00000573327:exon2:c.G276C:p.E92D,ENSG00000140987:ENST00000576500:exon2:c.G276C:p.E92D Score=317;Name=lod=26 NA 16p13.3 NA NA NA NA rs27241 0.25 0.25 0.243 0.257388 0.2475 0.131 0.2262 0.379 0.2556 0.25 0.13 0.23 0.39 0.3392 0.39 0.01 D 0.997 D 0.992 D 0.115 U 0.079 P . . 3.18 T -0.933 T 0.000 T 0.171 1.703 11.65 2.35 0.285 0.238 5.310 1.70313 1.70313 0 NA NA NA 0.413 NA 10.7466334 577 10 26355906 26355906 G A exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon11:c.G956A:p.R319H exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000543632:exon10:c.G956A:p.R319H,ENSG00000095777:ENST00000265944:exon11:c.G956A:p.R319H Score=488;Name=lod=128 NA 10p12.1 Score=857;Name=V$POU3F2_01 NA NA NA rs3824700 0.4 0.4 0.399 0.39357 0.5527 0.2937 0.3473 0.3116 0.4765 0.57 0.29 0.34 0.3 0.485 0.57 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.33 N -0.87 T -0.924 T 0.000 T 0.062 -0.156 3.24 5.56 0.949 4.608 6.739 -0.155574 NA 1 0.550116 0.367907 NA 0.457 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039050.1;CLNDSDB=.;CLNDSDBID=. 10.7455174 578 16 4310468 4310468 C G exonic TFAP4 NA nonsynonymous SNV TFAP4:NM_003223:exon5:c.G654C:p.Q218H exonic ENSG00000090447 NA nonsynonymous SNV ENSG00000090447:ENST00000204517:exon5:c.G654C:p.Q218H Score=626;Name=lod=467 NA 16p13.3 NA Name=GR,HA-E2F1,c-Myc Name=10 NA rs251732 0.67 0.67 0.633 0.672724 0.506 0.7589 0.6369 0.8336 0.5634 0.51 0.77 0.62 0.82 0.5832 0.82 0.57 T 0.0 B 0.0 B 0.079 N 1.000 P -0.69 N -5.09 D -0.916 T 0.000 T 0.042 1.579 11.24 2.12 0.552 0.599 3.182 1.579246 1.579246 0.39 0.499186 0.786755 ID=COSM1377904;OCCURENCE=1(large_intestine) 0.63 NA 10.7449474 578 7 122078414 122078414 T G exonic CADPS2 NA synonymous SNV CADPS2:NM_001009571:exon16:c.A2448C:p.T816T,CADPS2:NM_001167940:exon17:c.A2457C:p.T819T,CADPS2:NM_017954:exon17:c.A2457C:p.T819T exonic ENSG00000081803 NA synonymous SNV ENSG00000081803:ENST00000313070:exon16:c.A2448C:p.T816T,ENSG00000081803:ENST00000334010:exon16:c.A2460C:p.T820T,ENSG00000081803:ENST00000412584:exon16:c.A2448C:p.T816T,ENSG00000081803:ENST00000449022:exon17:c.A2457C:p.T819T Score=762;Name=lod=1665 NA 7q31.32 Score=890;Name=V$OCT1_02 NA NA NA rs2074589 0.3 0.3 0.273 0.284145 0.2982 0.3889 0.3761 0.1346 0.2986 0.28 0.43 0.37 0.12 0.315 0.43 . . . . . . . . 0.000 P . . . . -0.877 T 0.000 T . 0.555 7.004 5.71 2.172 1.420 11.122 0.55545 NA NA 0.311371 0.144628 NA 0.297 NA 10.7420956 578 12 122380838 122380838 C T exonic WDR66 NA nonsynonymous SNV WDR66:NM_001178003:exon7:c.C1148T:p.T383M,WDR66:NM_144668:exon7:c.C1148T:p.T383M exonic ENSG00000158023 NA nonsynonymous SNV ENSG00000158023:ENST00000288912:exon7:c.C1148T:p.T383M,ENSG00000158023:ENST00000397454:exon7:c.C1148T:p.T383M NA NA 12q24.31 NA NA NA NA rs34768683 0.08 0.08 0.087 0.118211 0.0239 0.0754 0.0303 0.2209 0.183 0.02 0.06 0.04 0.22 0.0543 0.22 0.09 T 0.989 D 0.648 P 0.022 N 1.000 P 1.78 L 0.65 T -1.084 T 0.000 T 0.195 2.593 14.63 3.1 1.054 0.262 5.332 2.592619 2.592619 0.14 0.018766 0.182088 NA 0.101 NA 10.7363674 579 1 152286367 152286367 C A exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G995T:p.G332V exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G995T:p.G332V NA NA 1q21.3 NA NA NA NA rs41267154 0.31 0.31 0.279 0.340655 0.171 0.6062 0.4193 0.115 0.4908 0.17 0.62 0.35 0.13 0.2603 0.62 0.24 T 1.0 D 0.995 D . . 1.000 P 2.14 M 4.69 T -0.920 T 0.008 T 0.069 1.003 9.095 1.2 0.200 -1.020 5.380 1.002721 NA 0.28 0.167907 0.132093 NA 0.217 NA 10.7341264 579 20 61463522 61463522 C A exonic COL9A3 NA nonsynonymous SNV COL9A3:NM_001853:exon25:c.C1304A:p.A435E exonic ENSG00000092758 NA nonsynonymous SNV ENSG00000092758:ENST00000343916:exon25:c.C1304A:p.A435E NA NA 20q13.33 NA Name=FOXA2_(SC-6554) NA NA rs751557 0.21 0.21 0.208 0.212859 0.2177 0.0496 0.1729 0.447 0.0879 0.21 0.06 0.18 0.41 0.182 0.41 0.83 T 0.081 B 0.061 B 0.657 N 1.000 P -0.115 N -3.27 D -1.093 T 0.000 T 0.085 1.371 10.51 4.23 2.584 0.934 12.510 1.37113 1.37113 0.86 0.206279 0.396505 ID=COSM1413000;OCCURENCE=1(large_intestine) 0.167 NA 10.7273544 580 14 24901249 24901249 A C exonic KHNYN NA nonsynonymous SNV KHNYN:NM_015299:exon3:c.A782C:p.K261T exonic ENSG00000100441 NA nonsynonymous SNV ENSG00000100441:ENST00000251343:exon3:c.A782C:p.K261T,ENSG00000100441:ENST00000553935:exon3:c.A782C:p.K261T,ENSG00000100441:ENST00000556842:exon3:c.A782C:p.K261T NA NA 14q12 Score=949;Name=V$AREB6_04 Name=CTCF,ELF1_(SC-631),Rad21,BCLAF1_(M33-P5B11),Pol2,Pol2(phosphoS2),SMC3_(ab9263),CTCFL_(SC-98982),CTCF_(C-20),ZBTB7A_(SC-34508),NFKB,ZNF263 NA NA rs3742520 0.45 0.45 0.393 0.405152 0.5636 0.5208 0.5807 0.0552 0.4714 0.57 0.53 0.56 0.09 0.5036 0.57 0.02 D 0.028 B 0.007 B 0.324 U 1.000 P 0.805 L 1.8 T -0.961 T 0.000 T 0.293 0.365 5.982 2.28 0.182 1.941 3.854 0.365043 NA 0.01 0.541977 0.13005 ID=COSM1562675;OCCURENCE=1(large_intestine) 0.413 NA 10.7241564 580 10 23297252 23297252 G A exonic ARMC3 NA nonsynonymous SNV ARMC3:NM_173081:exon15:c.G1877A:p.R626Q exonic ENSG00000165309 NA nonsynonymous SNV ENSG00000165309:ENST00000376528:exon12:c.G1088A:p.R363Q,ENSG00000165309:ENST00000298032:exon15:c.G1877A:p.R626Q,ENSG00000165309:ENST00000409049:exon15:c.G1877A:p.R626Q,ENSG00000165309:ENST00000409983:exon15:c.G1877A:p.R626Q Score=420;Name=lod=68 NA 10p12.2 NA NA NA NA rs10828395 0.16 0.16 0.149 0.188498 0.1859 0.12 0.0951 0.2821 0.2014 0.18 0.11 0.1 0.24 0.2459 0.27 0.66 T 0.287 B 0.036 B 0.385 N 0.000 P 0.625 N 2.42 T -1.065 T 0.000 T 0.273 2.272 13.55 5.56 2.603 2.748 15.028 2.271992 2.271992 0.11 0.180839 0.273163 NA 0.109 NA 10.7206944 580 1 152957887 152957887 G A exonic SPRR1A NA nonsynonymous SNV SPRR1A:NM_001199828:exon2:c.G181A:p.V61I,SPRR1A:NM_005987:exon2:c.G181A:p.V61I exonic ENSG00000169474 NA nonsynonymous SNV ENSG00000169474:ENST00000368762:exon1:c.G181A:p.V61I,ENSG00000169474:ENST00000307122:exon2:c.G181A:p.V61I Score=243;Name=lod=13 NA 1q21.3 NA NA NA NA rs1611764 0.58 0.58 0.568 0.561102 0.5348 0.6319 0.4524 0.6278 0.502 0.53 0.65 0.5 0.65 0.5345 0.65 0.12 T 0.828 P 0.542 P 0.817 N 1.000 P . . 2.48 T -1.025 T 0.021 T 0.052 1.983 12.59 3.77 1.389 1.015 7.763 1.983175 1.983175 0.19 0.543488 0.636632 NA 0.522 NA 10.7205454 580 2 207569623 207569623 A C exonic DYTN NA nonsynonymous SNV DYTN:NM_001093730:exon5:c.T427G:p.S143A exonic ENSG00000232125 NA nonsynonymous SNV ENSG00000232125:ENST00000452335:exon5:c.T427G:p.S143A NA NA 2q33.3 Score=821;Name=V$PAX4_01 NA NA NA rs116768218 0.02 0.02 0.01 0.0131789 0.0398 NA 0.0245 0.003 0.0051 0.04 NA 0.02 0.01 0.033 0.041 0.26 T 0.625 P 0.266 B . . 1.000 N 1.185 L -0.72 T -1.042 T 0.060 T 0.062 0.241 5.303 2.63 1.009 0.469 5.391 0.241324 NA 0.66 0.041029 0.007603 NA NA NA 10.7195044 580 7 87564497 87564497 C G exonic ADAM22 NA nonsynonymous SNV ADAM22:NM_004194:exon2:c.C242G:p.P81R,ADAM22:NM_016351:exon2:c.C242G:p.P81R,ADAM22:NM_021721:exon2:c.C242G:p.P81R,ADAM22:NM_021722:exon2:c.C242G:p.P81R,ADAM22:NM_021723:exon2:c.C242G:p.P81R exonic ENSG00000008277 NA nonsynonymous SNV ENSG00000008277:ENST00000398203:exon1:c.C143G:p.P48R,ENSG00000008277:ENST00000265727:exon2:c.C242G:p.P81R,ENSG00000008277:ENST00000315984:exon2:c.C242G:p.P81R,ENSG00000008277:ENST00000398201:exon2:c.C242G:p.P81R,ENSG00000008277:ENST00000398204:exon2:c.C242G:p.P81R,ENSG00000008277:ENST00000398209:exon2:c.C242G:p.P81R,ENSG00000008277:ENST00000412441:exon2:c.C242G:p.P81R,ENSG00000008277:ENST00000439864:exon2:c.C242G:p.P81R NA NA 7q21.12 Score=892;Name=V$AREB6_01 NA Name=24 NA rs2279542 0.63 0.63 0.635 0.630391 0.5229 0.5407 0.6282 0.9834 0.3579 0.52 0.52 0.59 0.97 0.5761 0.97 0.7 T 0.002 B 0.009 B 0.154 N 1.000 P 1.27 L 4.56 T -0.989 T 0.000 T 0.175 0.35 5.901 -5.26 -1.699 -1.004 1.067 0.350386 NA 0.16 0.516243 0.891913 NA 0.63 NA 10.7180904 581 12 48919796 48919796 C T exonic OR8S1 NA nonsynonymous SNV OR8S1:NM_001005203:exon1:c.C382T:p.R128C exonic ENSG00000197376 NA nonsynonymous SNV ENSG00000197376:ENST00000310194:exon1:c.C382T:p.R128C Score=433;Name=lod=77 NA 12q13.11 NA Name=CTCF NA NA rs12425460 0.59 0.59 0.588 0.578874 0.5139 0.6895 0.6599 0.4879 0.5971 0.54 0.72 0.65 0.48 0.5746 0.72 0.01 D 0.003 B 0.003 B 0.013 N 0.603 P 1.01 L 4.99 T -1.059 T 0.000 T 0.117 1.692 11.62 3.07 1.345 -0.820 8.056 1.691514 1.691514 0.03 0.531163 0.495461 NA 0.572 NA 10.7136704 581 11 27720937 27720937 C T exonic BDNF NA nonsynonymous SNV BDNF:NM_170734:exon1:c.G16A:p.E6K exonic ENSG00000176697 NA nonsynonymous SNV ENSG00000176697:ENST00000395986:exon1:c.G16A:p.E6K NA NA 11p14.1 NA Name=ZNF263,Pol2 Name=144 NA rs66866077 0.02 0.02 0.012 0.0151757 0.0368 NA 0.0432 NA 0.0092 0.03 NA 0.05 NA 0.0357 0.05 0 D 0.938 P 0.248 B 0.658 U 1.000 N . . 0.52 T -1.070 T 0.018 T 0.088 1.793 11.95 0.204 -0.056 0.277 3.743 1.792906 1.792906 0.03 0.047376 0.012355 NA 0.087 NA 10.7134574 581 10 26446312 26446312 G A exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon26:c.G2867A:p.S956N exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000265944:exon26:c.G2867A:p.S956N Score=513;Name=lod=162 NA 10p12.1 NA NA NA NA rs3758449 0.46 0.46 0.458 0.455272 0.5646 0.3552 0.451 0.4304 0.4826 0.57 0.38 0.43 0.4 0.5064 0.57 0.84 T 0.0 B 0.001 B 0.000 N 0.000 P -0.56 N -0.56 T -0.950 T 0.000 T 0.017 0.531 6.877 4.17 0.961 5.327 9.520 0.531306 NA 0.76 0.549186 0.466182 ID=COSM146910;OCCURENCE=1(stomach),2(large_intestine) 0.514 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039031.1;CLNDSDB=.;CLNDSDBID=. 10.7131474 581 11 69063393 69063393 T C exonic MYEOV NA nonsynonymous SNV MYEOV:NM_138768:exon3:c.T476C:p.V159A exonic ENSG00000172927 NA nonsynonymous SNV ENSG00000172927:ENST00000535407:exon2:c.T302C:p.V101A,ENSG00000172927:ENST00000308946:exon3:c.T476C:p.V159A,ENSG00000172927:ENST00000441339:exon3:c.T476C:p.V159A NA NA 11q13.3 NA Name=Egr-1,Pol2-4H8 NA NA rs7103126 0.4 0.4 0.404 0.454872 0.169 0.4643 0.1916 0.8533 0.3875 0.16 0.47 0.21 0.82 0.2767 0.82 0 D 0.0 B 0.0 B . . 1.000 P 0 N 1.87 T -1.022 T 0.000 T 0.02 -0.52 1.627 -1.73 -1.628 -4.270 5.559 -0.520073 NA 1 0.176176 0.722045 NA 0.514 NA 10.7114574 581 14 104559922 104559922 C G exonic ASPG NA nonsynonymous SNV ASPG:NM_001080464:exon3:c.C286G:p.L96V exonic ENSG00000166183 NA nonsynonymous SNV ENSG00000166183:ENST00000455920:exon3:c.C286G:p.L96V,ENSG00000166183:ENST00000546892:exon3:c.C286G:p.L96V,ENSG00000166183:ENST00000551177:exon3:c.C286G:p.L96V Score=425;Name=lod=71 NA 14q32.33 Score=928;Name=V$CEBPA_01 NA NA NA rs1744284 0.4 0.4 0.394 0.41254 0.1809 0.3869 0.3314 0.6815 0.3712 0.19 0.4 0.36 0.75 0.2738 0.75 0.03 D 0.004 B 0.012 B 0.000 N 1.000 P 1.035 L 1.3 T -0.999 T 0.000 T 0.365 -0.145 3.291 1.01 -0.348 2.059 5.606 -0.144993 NA 0.1 0.169771 0.550794 NA 0.188 NA 10.7088624 581 4 9922130 9922130 C T exonic SLC2A9 NA nonsynonymous SNV SLC2A9:NM_020041:exon7:c.G881A:p.R294H,SLC2A9:NM_001001290:exon8:c.G794A:p.R265H exonic ENSG00000109667 NA nonsynonymous SNV ENSG00000109667:ENST00000264784:exon7:c.G881A:p.R294H,ENSG00000109667:ENST00000309065:exon8:c.G794A:p.R265H,ENSG00000109667:ENST00000506583:exon9:c.G794A:p.R265H NA NA 4p16.1 Score=874;Name=V$NF1_Q6 NA NA NA rs3733591 0.29 0.29 0.278 0.294129 0.1909 0.6845 0.2075 0.0393 0.4039 0.21 0.69 0.18 0.05 0.2459 0.69 . . 1.0 D 0.997 D 0.342 N 0.997 P 2.395 M -0.81 T -0.902 T 0.000 T 0.07 2.346 13.8 1.57 -0.019 0.218 9.255 2.345619 2.345619 0.05 0.189419 0.071266 NA 0.188 NA 10.7071144 581 11 102398593 102398593 C T exonic MMP7 NA nonsynonymous SNV MMP7:NM_002423:exon2:c.G230A:p.R77H exonic ENSG00000137673 NA nonsynonymous SNV ENSG00000137673:ENST00000260227:exon2:c.G230A:p.R77H NA NA 11q22.2 NA Name=CEBPB,p300_(N-15),JunD,c-Jun Name=30 NA rs10502001 0.18 0.18 0.163 0.133586 0.2237 0.248 0.1484 0.0076 0.0828 0.21 0.29 0.16 0.01 0.1854 0.29 0.17 T 0.021 B 0.007 B 0.062 N 1.000 P 1.195 L 1.26 T -1.071 T 0.000 T 0.041 1.019 9.161 -7.85 -1.561 -0.363 18.316 1.018645 NA 0.29 0.219121 0.046074 NA 0.145 NA 10.7051124 581 11 6239344 6239344 G A exonic FAM160A2 NA nonsynonymous SNV FAM160A2:NM_001098794:exon9:c.C1472T:p.T491M,FAM160A2:NM_032127:exon9:c.C1514T:p.T505M exonic ENSG00000051009 NA nonsynonymous SNV ENSG00000051009:ENST00000265978:exon9:c.C1514T:p.T505M,ENSG00000051009:ENST00000449352:exon9:c.C1472T:p.T491M,ENSG00000051009:ENST00000524416:exon9:c.C1472T:p.T491M Score=491;Name=lod=132 NA 11p15.4 Score=739;Name=V$PAX4_04 NA Name=3 NA rs3750944 0.53 0.53 0.572 0.528954 0.5417 0.5 0.4294 0.6165 0.498 0.54 0.53 0.43 0.6 0.5308 0.6 0.24 T 0.051 B 0.013 B 0.030 N 1.000 P 0.69 N 3.1 T -0.983 T 0.000 T 0.055 0.783 8.13 5.5 0.929 1.772 6.959 0.782895 NA 0.09 0.555763 0.579354 NA 0.435 NA 10.7050704 582 8 101648164 101648164 C G exonic SNX31 NA nonsynonymous SNV SNX31:NM_152628:exon3:c.G217C:p.D73H exonic ENSG00000174226 NA nonsynonymous SNV ENSG00000174226:ENST00000520352:exon2:c.G19C:p.D7H,ENSG00000174226:ENST00000311812:exon3:c.G217C:p.D73H,ENSG00000174226:ENST00000520661:exon3:c.G220C:p.D74H,ENSG00000174226:ENST00000520743:exon4:c.G295C:p.D99H Score=507;Name=lod=154 NA 8q22.3 NA Name=MafK_(ab50322) NA NA rs2187016 0.27 0.27 0.263 0.33127 0.165 0.2579 0.2795 0.5234 0.3548 0.17 0.22 0.28 0.48 0.2472 0.48 0.02 D 0.81 P 0.715 P 0.131 N 0.000 P 1.385 L 1.53 T -0.903 T 0.000 T 0.345 2.789 15.29 1.95 0.079 0.190 8.866 2.788555 2.788555 0.05 0.216512 0.455288 NA 0.283 NA 10.7046214 582 6 31125257 31125257 C A exonic CCHCR1 NA stopgain CCHCR1:NM_001105563:exon1:c.G121T:p.E41X,CCHCR1:NM_001105564:exon1:c.G121T:p.E41X exonic ENSG00000204536 NA stopgain ENSG00000204536:ENST00000396268:exon1:c.G121T:p.E41X,ENSG00000204536:ENST00000426967:exon1:c.G121T:p.E41X,ENSG00000204536:ENST00000451521:exon1:c.G121T:p.E41X,ENSG00000204536:ENST00000488920:exon1:c.G121T:p.E41X Score=272;Name=lod=17 NA 6p21.33 NA NA NA NA rs72856718 0.09 0.09 0.076 0.08127 0.1123 0.0347 0.1383 0.0666 0.0767 0.12 0.04 0.15 0.06 0.0989 0.15 0.3 T . . . . . . 0.000 P . . . . . . . . . 4.759 26.7 3.02 1.215 0.856 7.680 4.75863 4.75863 0 0.085422 0.054003 NA 0.051 NA 10.703378 582 11 34937813 34937813 G A exonic APIP NA nonsynonymous SNV APIP:NM_015957:exon1:c.C19T:p.R7W exonic ENSG00000149089 NA nonsynonymous SNV ENSG00000149089:ENST00000395787:exon1:c.C19T:p.R7W NA NA 11p13 NA Name=EBF,HA-E2F1,Pol2-4H8,CCNT2,HEY1,AP-2gamma,TBP,TAF1,Pol2,ELF1_(SC-631) Name=148 NA rs2956114 0.43 0.43 0.384 0.434704 0.3539 0.7371 0.3977 0.2239 0.5174 0.36 0.71 0.39 0.26 0.4217 0.71 0.05 D 0.74 P 0.075 B 0.384 N 0.989 P 0 N 2.19 T -0.944 T 0.000 T 0.048 2.476 14.24 2.5 0.561 0.295 10.852 2.476444 2.476444 0.13 0.354565 0.242721 NA 0.464 NA 10.7031684 582 2 80529956 80529956 T C exonic LRRTM1 NA nonsynonymous SNV LRRTM1:NM_178839:exon2:c.A989G:p.N330S exonic ENSG00000162951 NA nonsynonymous SNV ENSG00000162951:ENST00000295057:exon2:c.A989G:p.N330S,ENSG00000162951:ENST00000409148:exon2:c.A989G:p.N330S,ENSG00000162951:ENST00000417012:exon2:c.A989G:p.N330S,ENSG00000162951:ENST00000433224:exon2:c.A989G:p.N330S Score=664;Name=lod=666 NA 2p12 Score=742;Name=V$TCF11MAFG_01 NA NA NA rs6733871 0.37 0.37 0.363 0.367412 0.1839 0.4831 0.3213 0.5076 0.2802 0.19 0.55 0.28 0.48 0.2693 0.55 . . 0.0 B 0.0 B 0.000 N 0.000 P -1.79 N 1.08 T -0.926 T 0.000 T 0.024 -0.165 3.194 3.46 0.219 2.149 10.573 -0.16522 NA 0.56 0.178488 0.449841 NA 0.326 NA 10.7016454 583 19 15569378 15569378 G C exonic RASAL3 NA nonsynonymous SNV RASAL3:NM_022904:exon7:c.C751G:p.L251V exonic ENSG00000105122 NA nonsynonymous SNV ENSG00000105122:ENST00000343625:exon7:c.C751G:p.L251V Score=511;Name=lod=159 NA 19p13.12 NA NA NA NA rs58123634 0.03 0.03 0.039 0.038738 0.0447 0.005 0.0231 0.0522 0.0603 0.05 0.0017 0.02 0.04 0.046 0.051 0.79 T 0.633 P 0.234 B 0.022 U 0.573 N 0.095 N -3.21 D -0.400 T 0.154 T 0.065 1.326 10.35 3.42 0.874 0.013 10.225 1.325523 1.325523 0.68 0.048402 0.050787 NA 0.043 NA 10.6942314 583 7 155531080 155531080 A G exonic RBM33 NA nonsynonymous SNV RBM33:NM_053043:exon11:c.A1720G:p.T574A exonic ENSG00000184863 NA nonsynonymous SNV ENSG00000184863:ENST00000401878:exon11:c.A1720G:p.T574A Score=259;Name=lod=15 NA 7q36.3 Score=784;Name=V$AHRARNT_02 NA NA NA rs3735576 0.36 0.36 0.354 0.365415 0.1869 0.3135 0.281 0.7239 0.1779 0.19 0.34 0.29 0.7 0.2575 0.7 1 T 0.0 B 0.001 B 0.285 N 0.001 P 0.6 N 1.01 T -0.933 T 0.000 T 0.255 -0.815 0.637 2.89 0.503 1.813 7.324 -0.814922 NA 0.31 0.196377 0.613374 NA 0.384 NA 10.6925564 583 7 139746793 139746793 C T exonic PARP12 NA nonsynonymous SNV PARP12:NM_022750:exon5:c.G877A:p.V293I exonic ENSG00000059378 NA nonsynonymous SNV ENSG00000059378:ENST00000263549:exon5:c.G877A:p.V293I,ENSG00000059378:ENST00000473341:exon5:c.G877A:p.V293I Score=431;Name=lod=75 NA 7q34 NA NA NA NA rs34111764 0.08 0.08 0.085 0.0978435 0.0408 NA 0.0375 0.298 0.0297 0.04 NA 0.03 0.26 0.0561 0.26 0.35 T 0.714 P 0.288 B 0.011 N 1.000 P 1.675 L 3.22 T -0.886 T 0.000 T 0.063 1.085 9.431 3.67 0.756 2.699 9.984 1.085463 NA 0.35 0.044535 0.263731 NA 0.109 NA 10.6918984 583 13 23898664 23898664 A G exonic SGCG NA nonsynonymous SNV SGCG:NM_000231:exon8:c.A860G:p.N287S exonic ENSG00000102683 NA nonsynonymous SNV ENSG00000102683:ENST00000218867:exon8:c.A860G:p.N287S,ENSG00000102683:ENST00000537476:exon9:c.A860G:p.N287S,ENSG00000102683:ENST00000545013:exon9:c.A860G:p.N287S Score=278;Name=lod=18 NA 13q12.12 NA NA Name=20 NA rs1800354 0.89 0.89 0.859 0.877796 0.8946 0.999 0.9308 0.7027 0.9346 0.9 1 0.93 0.72 0.8817 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.95 N -1.82 D -0.928 T 0.000 T 0.072 -0.56 1.471 5.41 1.305 4.017 14.422 -0.559727 NA 1 0.867209 0.731049 NA 0.841 NA 10.6898244 583 1 119575818 119575818 C G exonic WARS2 NA nonsynonymous SNV WARS2:NM_015836:exon6:c.G799C:p.A267P exonic ENSG00000116874 NA nonsynonymous SNV ENSG00000116874:ENST00000235521:exon6:c.G799C:p.A267P,ENSG00000116874:ENST00000537870:exon6:c.G517C:p.A173P NA NA 1p12 NA NA NA NA rs3790549 0.1 0.1 0.089 0.096845 0.0437 0.2143 0.0331 0.1127 0.0542 0.04 0.18 0.06 0.11 0.0569 0.18 0.1 T 0.507 P 0.433 B 0.070 N 1.000 P -0.195 N 0.72 T -1.044 T 0.049 T 0.144 1.789 11.94 4.88 2.785 2.312 11.814 1.789287 1.789287 0.25 0.04314 0.103041 NA 0.13 NA 10.6895934 583 9 90500909 90500909 C T exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C1507T:p.P503S exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.C1507T:p.P503S NA NA 9q22.1 NA NA NA NA rs75035814 0.09 0.09 0.099 0.0920527 0.0497 NA 0.0403 0.2852 0.0061 0.05 NA 0.05 0.28 0.0514 0.28 0.45 T 0.996 D 0.898 P 0.073 N 1.000 P 0.225 N 3.25 T -1.036 T 0.000 T 0.044 -0.619 1.249 -4.39 -1.333 -0.226 3.838 -0.619035 NA 0.78 0.04407 0.230368 NA 0.101 NA 10.6881634 583 19 54327313 54327313 C A exonic NLRP12 NA nonsynonymous SNV NLRP12:NM_001277126:exon1:c.G116T:p.G39V,NLRP12:NM_001277129:exon1:c.G116T:p.G39V,NLRP12:NM_144687:exon1:c.G116T:p.G39V exonic ENSG00000142405 NA nonsynonymous SNV ENSG00000142405:ENST00000324134:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000345770:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000351894:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000354278:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000391772:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000391773:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000391775:exon1:c.G116T:p.G39V,ENSG00000142405:ENST00000535162:exon1:c.G116T:p.G39V NA NA 19q13.42 Score=839;Name=V$EVI1_04 NA NA NA rs34436714 0.25 0.25 0.236 0.255591 0.2008 0.1776 0.2291 0.3858 0.2352 0.2 0.15 0.24 0.43 0.2294 0.43 0.2 T 0.134 B 0.062 B 0.027 N 0.000 P 1.875 L 0.13 T -0.965 T 0.000 T 0.497 2.131 13.08 4.48 2.224 1.465 13.021 2.130976 2.130976 0.01 0.215233 0.367453 NA 0.232 NA 10.6879004 584 14 68029313 68029313 G A exonic PLEKHH1 NA nonsynonymous SNV PLEKHH1:NM_020715:exon7:c.G965A:p.R322Q exonic ENSG00000054690 NA nonsynonymous SNV ENSG00000054690:ENST00000329153:exon7:c.G965A:p.R322Q Score=530;Name=lod=190 NA 14q24.1 NA NA NA NA rs2236235 0.18 0.18 0.161 0.173123 0.2207 0.2887 0.1758 0.0136 0.2188 0.22 0.3 0.17 0.01 0.2131 0.3 0.47 T 0.016 B 0.004 B 0.002 N 0.000 P 1.995 M 1.97 T -0.948 T 0.000 T 0.032 0.914 8.718 2.26 0.310 2.565 8.094 0.913728 NA 0.1 0.214648 0.03881 NA 0.123 NA 10.6848854 584 6 97058574 97058574 G A exonic FHL5 NA nonsynonymous SNV FHL5:NM_001170807:exon5:c.G631A:p.V211M,FHL5:NM_020482:exon6:c.G631A:p.V211M exonic ENSG00000112214 NA nonsynonymous SNV ENSG00000112214:ENST00000541107:exon5:c.G631A:p.V211M,ENSG00000112214:ENST00000326771:exon6:c.G631A:p.V211M NA NA 6q16.1 NA NA NA NA rs2252816 0.36 0.36 0.313 0.337859 0.3887 0.5625 0.4971 0.0371 0.3476 0.4 0.54 0.45 0.04 0.386 0.54 0.06 T 0.484 P 0.23 B 0.228 N 1.000 P 2.605 M -2.24 D -0.793 T 0.354 T 0.04 3.446 17.66 -11.8 -2.198 -1.087 8.879 3.445731 3.445731 0.11 0.377674 0.09714 NA 0.29 NA 10.6809594 584 3 16419309 16419309 C T exonic RFTN1 NA nonsynonymous SNV RFTN1:NM_015150:exon5:c.G742A:p.E248K exonic ENSG00000131378 NA nonsynonymous SNV ENSG00000131378:ENST00000432519:exon4:c.G634A:p.E212K,ENSG00000131378:ENST00000334133:exon5:c.G742A:p.E248K,ENSG00000131378:ENST00000451036:exon5:c.G742A:p.E248K NA NA 3p24.3 NA NA NA NA rs34276015 0.03 0.03 0.026 0.0461262 0.0517 0.0119 0.0375 0.0008 0.1431 0.06 0.0035 0.04 0.0041 0.0513 0.06 0.56 T 0.617 P 0.121 B 0.128 N 1.000 N 1.59 L 1.53 T -1.023 T 0.018 T 0.108 1.679 11.57 5.24 2.443 3.342 12.825 1.679255 1.679255 0.15 0.050581 0.009305 NA 0.087 NA 10.6797524 584 11 77825320 77825320 T C exonic ALG8 NA nonsynonymous SNV ALG8:NM_001007027:exon6:c.A665G:p.N222S,ALG8:NM_024079:exon6:c.A665G:p.N222S exonic ENSG00000159063 NA nonsynonymous SNV ENSG00000159063:ENST00000532440:exon1:c.A119G:p.N40S,ENSG00000159063:ENST00000525755:exon5:c.A512G:p.N171S,ENSG00000159063:ENST00000299626:exon6:c.A665G:p.N222S,ENSG00000159063:ENST00000376156:exon6:c.A665G:p.N222S,ENSG00000159063:ENST00000525870:exon6:c.A401G:p.N134S,ENSG00000159063:ENST00000530454:exon6:c.A668G:p.N223S,ENSG00000159063:ENST00000527099:exon7:c.A401G:p.N134S Score=505;Name=lod=151 NA 11q14.1 NA NA Name=2 NA rs665278 0.15 0.15 0.13 0.146366 0.2286 0.0942 0.2003 0.0439 0.2157 0.23 0.1 0.21 0.04 0.1991 0.23 0.92 T 0.001 B 0.004 B 0.067 N 0.774 P 1.01 L -1.72 D -1.100 T 0.000 T 0.14 -0.269 2.71 1.56 0.064 0.541 5.020 -0.269072 NA 0.42 0.229147 0.073864 NA 0.181 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082158.1;CLNDSDB=.;CLNDSDBID=. 10.6764864 585 11 1857751 1857751 C G exonic SYT8 NA nonsynonymous SNV SYT8:NM_138567:exon6:c.C655G:p.P219A exonic ENSG00000149043 NA nonsynonymous SNV ENSG00000149043:ENST00000341958:exon5:c.C613G:p.P205A,ENSG00000149043:ENST00000381968:exon6:c.C655G:p.P219A NA NA 11p15.5 NA NA NA NA rs3741231 0.34 0.34 0.305 0.337859 0.3926 0.3026 0.3732 0.2398 0.4254 0.4 0.31 0.39 0.23 0.3886 0.4 0.04 D 0.666 P 0.162 B . . 0.121 P 1.93 M 2.99 T -0.915 T 0.000 T 0.379 2.675 14.91 2.33 0.459 1.232 8.09 2.675253 2.675253 0.03 0.38047 0.261126 NA 0.261 NA 10.6716634 585 20 42089613 42089613 G A exonic SRSF6 NA synonymous SNV SRSF6:NM_006275:exon6:c.G945A:p.V315V exonic ENSG00000124193 NA synonymous SNV ENSG00000124193:ENST00000244020:exon6:c.G945A:p.V315V Score=536;Name=lod=201 NA 20q13.11 Score=879;Name=V$MAZR_01 Name=HEY1,Pol2-4H8 Name=6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305371 NA NA NA NA NA NA NA 10.6665666 585 19 9006663 9006663 C T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon44:c.G39585A:p.T13195T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon44:c.G39585A:p.T13195T NA NA 19p13.2 Score=748;Name=V$NRSF_01 NA NA NA rs376322394 NA NA NA 0.000998403 NA 0.001 NA 0.0023 0.001 NA NA NA NA 0.0004 0.0005 . . . . . . . . . . . . . . -1.037 T 0.059 T . -0.582 1.387 -5.98 -5.897 -11.109 4.038 -0.581746 NA NA 0 0.000502 NA NA NA 10.6662666 585 15 33357262 33357262 A G exonic FMN1 NA nonsynonymous SNV FMN1:NM_001103184:exon2:c.T1388C:p.L463P,FMN1:NM_001277313:exon6:c.T2057C:p.L686P exonic ENSG00000248905 NA nonsynonymous SNV ENSG00000248905:ENST00000334528:exon2:c.T1388C:p.L463P,ENSG00000248905:ENST00000558197:exon2:c.T1388C:p.L463P,ENSG00000248905:ENST00000559047:exon3:c.T2057C:p.L686P Score=477;Name=lod=116 NA 15q13.3 NA Name=p300 Name=68 NA rs2306277 0.44 0.44 0.423 0.44988 0.5646 0.2054 0.5634 0.4342 0.5245 0.56 0.22 0.59 0.39 0.5306 0.59 0.89 T 0.0 B 0.0 B 0.000 N . . -1.055 N 1.49 T -0.950 T 0.000 T 0.147 -0.341 2.387 5.13 0.916 6.540 13.146 -0.34075 NA 1 0.572104 0.460616 ID=COSM147870;OCCURENCE=1(stomach) 0.457 NA 10.6660294 585 11 5968728 5968728 T C exonic OR56A3 NA nonsynonymous SNV OR56A3:NM_001003443:exon1:c.T152C:p.M51T exonic ENSG00000184478 NA nonsynonymous SNV ENSG00000184478:ENST00000329564:exon1:c.T152C:p.M51T Score=304;Name=lod=23 NA 11p15.4 NA NA NA NA rs1840178 0.57 0.57 0.524 0.560903 0.5408 0.6548 0.6412 0.4871 0.5276 0.54 0.65 0.65 0.47 0.5659 0.65 0.03 D 0.0 B 0.001 B 0.331 N 1.000 P -1.09 N 4.06 T -1.061 T 0.000 T 0.047 0.041 4.229 3.99 0.980 1.113 8.944 0.041428 NA 0.07 0.560638 0.509995 NA 0.522 NA 10.6659954 586 3 121416623 121416623 G C exonic GOLGB1 NA nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C2507G:p.T836S,GOLGB1:NM_001256486:exon13:c.C2747G:p.T916S,GOLGB1:NM_001256487:exon13:c.C2630G:p.T877S,GOLGB1:NM_004487:exon13:c.C2732G:p.T911S exonic ENSG00000173230 NA nonsynonymous SNV ENSG00000173230:ENST00000494517:exon12:c.C2624G:p.T875S,ENSG00000173230:ENST00000340645:exon13:c.C2732G:p.T911S,ENSG00000173230:ENST00000393667:exon13:c.C2747G:p.T916S Score=578;Name=lod=299 NA 3q13.33 NA NA NA NA rs3732407 0.14 0.14 0.121 0.105431 0.2435 0.0476 0.147 0.0121 0.1196 0.25 0.06 0.19 0.02 0.1842 0.25 0.71 T 0.012 B 0.027 B 0.003 N 0.996 P 0.29 N 3.16 T -0.945 T 0.000 T 0.074 0.64 7.435 4.48 1.493 3.941 12.094 0.639547 NA 0.33 0.241103 0.04108 NA 0.065 NA 10.6645304 586 17 56247101 56247101 C A exonic OR4D2 NA nonsynonymous SNV OR4D2:NM_001004707:exon1:c.C85A:p.L29I exonic ENSG00000255713 NA nonsynonymous SNV ENSG00000255713:ENST00000545221:exon1:c.C85A:p.L29I Score=378;Name=lod=46 NA 17q22 Score=973;Name=V$AREB6_04 NA NA NA rs60994383 0.23 0.23 0.232 0.235224 0.2147 0.1657 0.1599 0.3775 0.1892 0.22 0.16 0.18 0.36 0.2269 0.36 0.14 T 0.001 B 0.005 B 0.373 N 1.000 P 0.82 L 8.36 T -0.994 T 0.000 T 0.056 0.003 4.031 -5.02 -0.561 -2.547 2.287 0.003271 NA 0.18 0.228256 0.355651 NA 0.138 NA 10.6634774 586 11 43357557 43357557 G A intronic API5 NA NA NA exonic ENSG00000166181 NA nonsynonymous SNV ENSG00000166181:ENST00000534600:exon13:c.G1505A:p.R502H Score=653;Name=lod=601 NA 11p12 NA NA NA NA rs188033951 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0006 0.0016 . . 0.474 P 0.058 B . . 1.000 N . . 1.68 T -1.064 T 0.039 T 0.361 2.894 15.64 5.6 2.639 3.748 13.605 2.89422 2.89422 NA 0.001628 0.000227 NA NA NA 10.6634387 586 2 182783550 182783550 A G exonic SSFA2 NA synonymous SNV SSFA2:NM_001130445:exon13:c.A2934G:p.L978L,SSFA2:NM_006751:exon13:c.A2934G:p.L978L exonic ENSG00000138434 NA synonymous SNV ENSG00000138434:ENST00000409136:exon5:c.A1461G:p.L487L,ENSG00000138434:ENST00000428267:exon12:c.A2475G:p.L825L,ENSG00000138434:ENST00000320370:exon13:c.A2934G:p.L978L,ENSG00000138434:ENST00000409001:exon13:c.A2934G:p.L978L,ENSG00000138434:ENST00000431877:exon13:c.A2934G:p.L978L Score=625;Name=lod=462 NA 2q31.3 NA Name=MafK_(ab50322) NA NA rs78894663 0.0027 0.0027 0.003 0.00579073 0.001 NA 0.0029 0.0197 NA NA NA 0.0028 0.01 0.0025 0.027 . . . . . . . . 1.000 D . . . . -0.998 T 0.087 T . 1.205 9.892 2.52 0.205 0.624 9.081 1.204576 NA NA 0.000116 0.026782 NA NA NA 10.6630506 586 4 153896358 153896358 C T exonic FHDC1 NA nonsynonymous SNV FHDC1:NM_033393:exon11:c.C1915T:p.R639C exonic ENSG00000137460 NA nonsynonymous SNV ENSG00000137460:ENST00000260008:exon11:c.C1915T:p.R639C,ENSG00000137460:ENST00000511601:exon12:c.C1915T:p.R639C NA NA 4q31.3 NA NA NA NA rs3811833 0.55 0.55 0.528 0.48143 0.7565 0.5466 0.5937 0.1445 0.5072 0.76 0.55 0.61 0.17 0.654 0.76 0.02 D 0.997 D 0.563 P 0.763 N 1.000 P 2.08 M 1.39 T -1.004 T 0.000 T 0.069 3.191 16.68 3.68 2.622 0.141 13.886 3.191286 3.191286 0.09 0.760526 0.234226 NA 0.5 NA 10.6623074 586 9 74360096 74360096 C T exonic TMEM2 NA nonsynonymous SNV TMEM2:NM_001135820:exon4:c.G872A:p.R291H,TMEM2:NM_013390:exon4:c.G872A:p.R291H exonic ENSG00000135048 NA nonsynonymous SNV ENSG00000135048:ENST00000377044:exon4:c.G872A:p.R291H,ENSG00000135048:ENST00000377066:exon4:c.G872A:p.R291H,ENSG00000135048:ENST00000542935:exon4:c.G872A:p.R291H Score=412;Name=lod=63 NA 9q21.13 NA NA NA NA rs25689 0.23 0.23 0.233 0.284145 0.2187 0.1766 0.2752 0.3608 0.365 0.21 0.18 0.22 0.34 0.2411 0.34 0.23 T 0.0 B 0.001 B 0.028 N 0.000 P -0.205 N -0.66 T -1.035 T 0.000 T 0.053 1.252 10.08 6.03 1.106 1.925 9.001 1.25199 1.25199 0.22 0.211279 0.328416 NA 0.304 NA 10.6622544 586 3 187088656 187088656 C T exonic RTP4 NA nonsynonymous SNV RTP4:NM_022147:exon2:c.C236T:p.T79I exonic ENSG00000136514 NA nonsynonymous SNV ENSG00000136514:ENST00000259030:exon2:c.C236T:p.T79I NA NA 3q27.3 NA NA NA NA rs1047584 0.18 0.18 0.158 0.179712 0.2376 0.0536 0.2363 0.1831 0.2055 0.22 0.06 0.27 0.19 0.2037 0.27 0.13 T 0.905 P 0.599 P 0.110 N 1.000 P 1.04 L 2.19 T -1.016 T 0.000 T 0.021 0.498 6.698 -7.78 -3.035 -1.121 0.425 0.497523 NA 0.01 0.235698 0.194054 NA 0.174 NA 10.6563354 586 19 6850767 6850767 C T exonic VAV1 NA nonsynonymous SNV VAV1:NM_001258206:exon23:c.C2150T:p.T717M,VAV1:NM_001258207:exon23:c.C2120T:p.T707M,VAV1:NM_005428:exon24:c.C2216T:p.T739M exonic ENSG00000141968 NA nonsynonymous SNV ENSG00000141968:ENST00000304076:exon23:c.C2150T:p.T717M,ENSG00000141968:ENST00000539284:exon23:c.C1925T:p.T642M,ENSG00000141968:ENST00000596764:exon23:c.C2120T:p.T707M,ENSG00000141968:ENST00000599806:exon24:c.C2051T:p.T684M,ENSG00000141968:ENST00000602142:exon24:c.C2216T:p.T739M NA NA 19p13.3 NA NA NA NA rs36097961 0.03 0.03 0.016 0.01877 0.0586 0.004 0.0173 0.0015 0.0174 0.06 NA 0.02 0.0041 0.0514 0.067 0.31 T 0.65 P 0.34 B 0.070 N 1.000 N 0.52 N -2.43 D -0.662 T 0.078 T 0.081 1.654 11.49 -5.12 -0.785 -1.136 10.404 1.653804 1.653804 0.4 0.067442 0.013391 NA 0.014 NA 10.6558914 587 5 102343291 102343291 C A exonic PAM NA synonymous SNV PAM:NM_138821:exon18:c.C1824A:p.T608T,PAM:NM_000919:exon19:c.C2145A:p.T715T,PAM:NM_001177306:exon19:c.C2145A:p.T715T,PAM:NM_138766:exon19:c.C2145A:p.T715T,PAM:NM_138822:exon19:c.C2145A:p.T715T exonic ENSG00000145730 NA synonymous SNV ENSG00000145730:ENST00000274392:exon18:c.C1854A:p.T618T,ENSG00000145730:ENST00000348126:exon18:c.C1824A:p.T608T,ENSG00000145730:ENST00000304400:exon19:c.C2145A:p.T715T,ENSG00000145730:ENST00000346918:exon19:c.C2145A:p.T715T,ENSG00000145730:ENST00000379787:exon19:c.C285A:p.T95T,ENSG00000145730:ENST00000438793:exon19:c.C2145A:p.T715T,ENSG00000145730:ENST00000455264:exon19:c.C2145A:p.T715T Score=599;Name=lod=364 NA 5q21.1 Score=861;Name=V$IRF1_01 NA NA NA rs34746026 0.0009 0.0009 NA 0.00559105 0.003 NA 0.0014 NA 0.0245 0.0026 NA NA NA 0.005 0.011 . . . . . . . . 1.000 D . . . . -0.979 T 0.124 T . 0.911 8.706 3.35 0.720 0.328 0.892 0.910841 NA NA 0.004419 0.000908 NA 0.007 NA 10.6542476 587 20 14066276 14066276 C T exonic MACROD2 NA nonsynonymous SNV MACROD2:NM_080676:exon3:c.C173T:p.T58I exonic ENSG00000172264 NA nonsynonymous SNV ENSG00000172264:ENST00000217246:exon3:c.C173T:p.T58I,ENSG00000172264:ENST00000310348:exon3:c.C173T:p.T58I Score=590;Name=lod=334 NA 20p12.1 NA NA NA NA rs2990505 0.25 0.25 0.229 0.257788 0.2346 0.1895 0.2983 0.3056 0.2587 0.23 0.2 0.27 0.32 0.237 0.32 0.1 T 0.165 B 0.111 B 0.216 N 0.000 P 1.1 L 1.05 T -1.081 T 0.000 T 0.065 1.961 12.51 4.81 2.724 2.427 12.947 1.960781 1.960781 0.18 0.209956 0.295379 ID=COSM149145;OCCURENCE=1(stomach) 0.203 NA 10.6517774 587 7 87160618 87160618 A C exonic ABCB1 NA nonsynonymous SNV ABCB1:NM_000927:exon22:c.T2677G:p.S893A exonic ENSG00000085563 NA nonsynonymous SNV ENSG00000085563:ENST00000543898:exon19:c.T2485G:p.S829A,ENSG00000085563:ENST00000265724:exon22:c.T2677G:p.S893A Score=545;Name=lod=218 NA 7q21.12 Score=959;Name=V$HSF2_01 NA NA NA rs2032582 0.66 0.66 0.694 0.617013 0.5726 0.4683 0.572 0.9796 0.3579 0.57 0.55 0.59 0.97 0.5432 0.97 1 T 0.0 B 0.005 B 0.000 N 0.999 P -0.98 N -2.24 D -0.903 T 0.000 T 0.057 0.196 5.057 3.72 0.319 2.118 14.563 0.196173 NA 1 0.568488 0.891966 NA 0.652 NA 10.6490454 587 1 33820134 33820134 C T exonic PHC2 NA nonsynonymous SNV PHC2:NM_198040:exon8:c.G1423A:p.V475M exonic ENSG00000134686 NA nonsynonymous SNV ENSG00000134686:ENST00000373422:exon2:c.G241A:p.V81M,ENSG00000134686:ENST00000431992:exon7:c.G1336A:p.V446M,ENSG00000134686:ENST00000257118:exon8:c.G1423A:p.V475M,ENSG00000134686:ENST00000419414:exon9:c.G1426A:p.V476M Score=395;Name=lod=54 NA 1p35.1 NA NA NA NA rs12026290 0.17 0.17 0.151 0.171526 0.2346 0.2113 0.17 0.0182 0.274 0.23 0.2 0.17 0.03 0.2117 0.24 0.03 D 0.412 B 0.172 B 0.848 N 0.003 P 1.39 L 1.8 T -1.067 T 0.000 T 0.059 0.884 8.589 3.93 1.457 0.612 9.164 0.884024 NA 0.03 0.241744 0.05084 NA 0.145 NA 10.6452894 588 8 21550800 21550800 A T exonic GFRA2 NA nonsynonymous SNV GFRA2:NM_001165039:exon7:c.T986A:p.L329Q,GFRA2:NM_001165038:exon8:c.T1070A:p.L357Q,GFRA2:NM_001495:exon9:c.T1385A:p.L462Q exonic ENSG00000168546 NA nonsynonymous SNV ENSG00000168546:ENST00000518077:exon7:c.T986A:p.L329Q,ENSG00000168546:ENST00000400782:exon8:c.T1070A:p.L357Q,ENSG00000168546:ENST00000517892:exon8:c.T1070A:p.L357Q,ENSG00000168546:ENST00000524240:exon9:c.T1385A:p.L462Q,ENSG00000168546:ENST00000517328:exon11:c.T1385A:p.L462Q Score=371;Name=lod=43 NA 8p21.3 NA NA NA NA rs1128397 0.38 0.38 0.396 0.372005 0.4026 0.4296 0.3228 0.3396 0.3599 0.41 0.44 0.31 0.34 0.3867 0.44 0.06 T 0.997 D 0.879 P 0.003 N 0.037 P 1.87 L 1.61 T -0.931 T 0.000 T 0.234 3.462 17.73 2.85 0.299 2.372 9.679 3.462459 3.462459 0.04 0.39921 0.333417 NA 0.377 NA 10.6448234 588 17 61623052 61623052 C T exonic KCNH6 NA nonsynonymous SNV KCNH6:NM_030779:exon14:c.C2774T:p.T925M,KCNH6:NM_173092:exon14:c.C2507T:p.T836M exonic ENSG00000173826 NA nonsynonymous SNV ENSG00000173826:ENST00000314672:exon13:c.C2666T:p.T889M,ENSG00000173826:ENST00000456941:exon14:c.C2507T:p.T836M,ENSG00000173826:ENST00000581784:exon14:c.C2507T:p.T836M,ENSG00000173826:ENST00000583023:exon14:c.C2774T:p.T925M NA NA 17q23.3 Score=858;Name=V$CEBP_C NA NA NA rs35819807 0.16 0.16 0.163 0.139976 0.2485 0.0367 0.1052 0.1626 0.1288 0.25 0.04 0.12 0.17 0.1953 0.25 0.28 T 0.009 B 0.004 B 0.426 N 1.000 P 0.41 N -5.58 D -0.394 T 0.001 T 0.032 1.057 9.316 -7.62 -1.025 0.188 6.958 1.056938 NA 0.1 0.246744 0.164094 NA 0.152 NA 10.6427894 588 7 89984409 89984409 A G exonic GTPBP10 NA nonsynonymous SNV GTPBP10:NM_033107:exon4:c.A329G:p.N110S exonic ENSG00000105793 NA nonsynonymous SNV ENSG00000105793:ENST00000222511:exon4:c.A329G:p.N110S,ENSG00000105793:ENST00000426366:exon4:c.A302G:p.N101S,ENSG00000105793:ENST00000450619:exon5:c.A380G:p.N127S Score=454;Name=lod=93 NA 7q21.13 NA NA NA NA rs42664 0.52 0.52 0.49 0.51258 0.5517 0.6468 0.5317 0.3109 0.593 0.56 0.62 0.54 0.32 0.5684 0.62 . . 0.277 B 0.223 B 0.000 D 0.000 P 0.495 N 2.04 T -0.982 T 0.000 T 0.096 2.751 15.16 5.93 2.258 6.499 16.384 2.750984 2.750984 0.15 0.574436 0.361099 NA 0.507 NA 10.6387974 588 12 78530991 78530991 C T exonic NAV3 NA synonymous SNV NAV3:NM_014903:exon19:c.C4476T:p.P1492P exonic ENSG00000067798 NA synonymous SNV ENSG00000067798:ENST00000550788:exon3:c.C363T:p.P121P,ENSG00000067798:ENST00000266692:exon17:c.C3945T:p.P1315P,ENSG00000067798:ENST00000228327:exon19:c.C4476T:p.P1492P,ENSG00000067798:ENST00000397909:exon19:c.C4476T:p.P1492P,ENSG00000067798:ENST00000536525:exon19:c.C4476T:p.P1492P Score=557;Name=lod=245 NA 12q21.2 NA NA NA NA rs61754236 0.01 0.01 0.003 0.00519169 0.0109 NA 0.0043 0.0053 0.0051 0.01 NA 0.01 0.002 0.0081 0.011 . . . . . . . . 1.000 D . . . . -0.918 T 0.117 T . 0.053 4.289 -5.07 -1.265 -0.014 7.644 0.052786 NA NA 0.011068 0.006952 ID=COSM147568;OCCURENCE=1(stomach) 0.007 NA 10.6365986 588 1 78585086 78585086 T C exonic GIPC2 NA nonsynonymous SNV GIPC2:NM_017655:exon4:c.T617C:p.L206P exonic ENSG00000137960 NA nonsynonymous SNV ENSG00000137960:ENST00000370759:exon4:c.T617C:p.L206P NA NA 1p31.1 Score=830;Name=V$PPARA_01 NA Name=12 NA rs540742 0.34 0.34 0.339 0.307109 0.2266 0.6637 0.1758 0.2186 0.2352 0.22 0.65 0.19 0.26 0.2531 0.65 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.69 N -1.39 T -1.038 T 0.032 T 0.056 -2.457 0.003 4.68 0.867 2.060 9.103 -2.457311 NA 1 0.218372 0.224694 NA 0.261 NA 10.6352614 589 2 201768238 201768238 C T exonic NIF3L1 NA nonsynonymous SNV NIF3L1:NM_001142356:exon5:c.C832T:p.L278F,NIF3L1:NM_001136039:exon7:c.C971T:p.T324I,NIF3L1:NM_001142355:exon7:c.C890T:p.T297I,NIF3L1:NM_021824:exon7:c.C890T:p.T297I exonic ENSG00000196290 NA nonsynonymous SNV ENSG00000196290:ENST00000409588:exon5:c.C832T:p.L278F,ENSG00000196290:ENST00000359683:exon7:c.C890T:p.T297I,ENSG00000196290:ENST00000409020:exon7:c.C971T:p.T324I,ENSG00000196290:ENST00000416651:exon7:c.C971T:p.T324I,ENSG00000196290:ENST00000409357:exon8:c.C971T:p.T324I Score=543;Name=lod=214 NA 2q33.1 NA NA NA NA rs7917 0.26 0.26 0.298 0.283347 0.2555 0.0149 0.1772 0.6694 0.1421 0.26 0.01 0.2 0.62 0.2218 0.62 0.37 T 0.0 B 0.0 B 0.000 N 0.996 P . . 1.07 T -0.951 T 0.000 T 0.048 0.621 7.341 5.33 0.968 5.883 11.529 0.620919 NA 0.67 0.221359 0.578809 NA 0.348 NA 10.6346744 589 12 104341103 104341103 C T exonic HSP90B1 NA synonymous SNV HSP90B1:NM_003299:exon17:c.C2277T:p.P759P exonic ENSG00000166598 NA synonymous SNV ENSG00000166598:ENST00000299767:exon17:c.C2277T:p.P759P Score=476;Name=lod=115 NA 12q23.3 NA NA NA NA rs7645 0.45 0.45 0.463 0.45627 0.336 0.4692 0.4582 0.6362 0.3221 0.33 0.47 0.43 0.63 0.3742 0.63 0.08 T . . . . 0.000 D 0.000 P . . 2.98 T -0.991 T 0.000 T . 0.873 8.541 -5.92 -1.182 -2.780 5.348 0.873248 NA NA 0.322209 0.5867 NA 0.471 NA 10.6342576 589 16 50744624 50744624 C T exonic NOD2 NA nonsynonymous SNV NOD2:NM_022162:exon4:c.C802T:p.P268S exonic ENSG00000167207 NA nonsynonymous SNV ENSG00000167207:ENST00000300589:exon4:c.C802T:p.P268S NA NA 16q12.1 Score=773;Name=V$HEN1_02 NA NA NA rs2066842 0.12 0.12 0.122 0.102037 0.2465 0.0079 0.1671 0.0272 0.1053 0.24 0.0017 0.19 0.04 0.1844 0.27 0.71 T 0.029 B 0.01 B 0.217 N 1.000 P 1.175 L -0.33 T -1.098 T 0.000 T 0.045 -1.853 0.009 -8.34 -1.444 -1.762 7.107 -1.852658 NA 0.39 0.26907 0.058007 NA 0.203 NA 10.6333634 589 3 58382846 58382846 C T exonic PXK NA synonymous SNV PXK:NM_017771:exon10:c.C903T:p.C301C exonic ENSG00000168297 NA synonymous SNV ENSG00000168297:ENST00000536660:exon7:c.C492T:p.C164C,ENSG00000168297:ENST00000383716:exon8:c.C804T:p.C268C,ENSG00000168297:ENST00000463280:exon8:c.C804T:p.C268C,ENSG00000168297:ENST00000302779:exon9:c.C852T:p.C284C,ENSG00000168297:ENST00000383715:exon9:c.C852T:p.C284C,ENSG00000168297:ENST00000479241:exon9:c.C852T:p.C284C,ENSG00000168297:ENST00000356151:exon10:c.C903T:p.C301C,ENSG00000168297:ENST00000484288:exon10:c.C903T:p.C301C Score=478;Name=lod=117 NA 3p14.3 Score=948;Name=V$NKX25_01 NA NA NA rs3191903 0.23 0.23 0.21 0.200679 0.3777 0.001 0.2839 0.1959 0.1718 0.36 NA 0.3 0.22 0.2827 0.37 . . . . . . . . 0.000 P . . . . -1.135 T 0.000 T . 1.333 10.37 5.5 2.861 1.606 19.592 1.332515 1.332515 NA 0.373256 0.205856 NA 0.319 NA 10.6330106 589 8 145642002 145642002 C T exonic SLC39A4 NA nonsynonymous SNV SLC39A4:NM_130849:exon1:c.G172A:p.A58T exonic ENSG00000147804 NA nonsynonymous SNV ENSG00000147804:ENST00000301305:exon1:c.G172A:p.A58T,ENSG00000147804:ENST00000526658:exon1:c.G172A:p.A58T NA NA 8q24.3 NA Name=Pol2-4H8,HEY1,TCF12,TBP,Pol2,HNF4G_(SC-6558) Name=11 NA rs2280838 0.48 0.48 0.455 0.433506 0.5567 0.373 0.4236 0.416 0.3998 0.58 0.41 0.48 0.42 0.5757 0.58 0.7 T 0.0 B 0.0 B 0.100 N 0.803 P 0.345 N 0.38 T -1.026 T 0.000 T 0.385 2.808 15.35 -9.42 -1.950 -2.408 5.707 2.807508 2.807508 0.67 0.569765 0.430987 NA 0.442 NA 10.6311684 589 1 183094547 183094547 T C exonic LAMC1 NA nonsynonymous SNV LAMC1:NM_002293:exon15:c.T2663C:p.L888P exonic ENSG00000135862 NA nonsynonymous SNV ENSG00000135862:ENST00000258341:exon15:c.T2663C:p.L888P Score=361;Name=lod=39 NA 1q25.3 NA Name=USF-1 NA NA rs20558 0.53 0.53 0.49 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.5723 0.58 1 T 0.0 B 0.0 B 0.000 N 0.002 P -1.95 N 0.22 T -0.940 T 0.000 T 0.167 0.436 6.37 5.64 1.396 4.396 14.475 0.43641 NA 0.28 0.569535 0.374489 NA 0.442 NA 10.6278984 590 16 57762401 57762401 T C exonic CCDC135 NA nonsynonymous SNV CCDC135:NM_032269:exon16:c.T2296C:p.C766R exonic ENSG00000159625 NA nonsynonymous SNV ENSG00000159625:ENST00000336825:exon15:c.T2101C:p.C701R,ENSG00000159625:ENST00000394337:exon16:c.T2296C:p.C766R,ENSG00000159625:ENST00000360716:exon17:c.T2296C:p.C766R NA NA 16q21 Score=876;Name=V$NF1_Q6 NA NA NA rs2923147 0.39 0.39 0.381 0.394569 0.2256 0.3839 0.2954 0.7133 0.2188 0.23 0.38 0.3 0.7 0.2842 0.7 1 T 0.0 B 0.0 B 0.002 N 1.000 P -2.295 N 1.28 T -0.941 T 0.000 T 0.38 -1.228 0.059 4.16 1.184 1.019 8.033 -1.228281 NA 0.53 0.199022 0.637067 ID=COSM435439;OCCURENCE=1(breast) 0.326 NA 10.6245114 590 6 43412865 43412865 T C exonic ABCC10 NA nonsynonymous SNV ABCC10:NM_033450:exon12:c.T2759C:p.I920T,ABCC10:NM_001198934:exon14:c.T2843C:p.I948T exonic ENSG00000124574 NA nonsynonymous SNV ENSG00000124574:ENST00000244533:exon12:c.T2759C:p.I920T,ENSG00000124574:ENST00000372530:exon14:c.T2843C:p.I948T Score=428;Name=lod=73 NA 6p21.1 NA NA NA NA rs2125739 0.19 0.19 0.187 0.20008 0.2316 0.0804 0.1859 0.3079 0.1554 0.22 0.07 0.2 0.26 0.2243 0.32 0.81 T 0.0 B 0.001 B 0.012 N 1.000 P -0.205 N -2.7 D -0.956 T 0.209 T 0.024 0.304 5.646 4.99 1.106 0.701 8.263 0.303835 NA 1 0.254884 0.317295 NA 0.181 NA 10.6225494 590 2 163124051 163124051 C T exonic IFIH1 NA nonsynonymous SNV IFIH1:NM_022168:exon15:c.G2836A:p.A946T exonic ENSG00000115267 NA nonsynonymous SNV ENSG00000115267:ENST00000263642:exon15:c.G2836A:p.A946T Score=422;Name=lod=69 Name=Immunoglobulin A,Type 1 diabetes,Type 1 diabetes autoantibodies 2q24.2 Score=886;Name=V$SRY_02 NA NA NA rs1990760 0.37 0.37 0.34 0.356629 0.6054 0.1865 0.3905 0.1256 0.5644 0.61 0.22 0.45 0.11 0.5047 0.61 0.61 T 0.105 B 0.027 B 0.030 N 0.000 P 1.245 L 0.95 T -0.945 T 0.000 T 0.084 0.048 4.264 3.87 1.243 0.669 7.731 0.048 NA 0.32 0.602907 0.185202 NA 0.457 NA 10.6203264 590 6 32609806 32609806 C T exonic HLA-DQA1 NA nonsynonymous SNV HLA-DQA1:NM_002122:exon3:c.C389T:p.T130I exonic ENSG00000196735 NA nonsynonymous SNV ENSG00000196735:ENST00000343139:exon3:c.C389T:p.T130I,ENSG00000196735:ENST00000374949:exon3:c.C389T:p.T130I,ENSG00000196735:ENST00000395363:exon3:c.C389T:p.T130I,ENSG00000196735:ENST00000496318:exon3:c.C389T:p.T130I Score=393;Name=lod=53 NA 6p21.32 NA Name=Pol2,Pol2-4H8 Name=3 NA rs707952 0.2 0.2 0.206 0.187101 0.2286 0.12 0.2392 0.2209 0.1309 0.21 0.15 0.27 0.21 0.239 0.27 0.33 T 0.009 B 0.016 B 0.141 N 0.671 P 1.575 L 6.0 T -0.953 T 0.001 T 0.524 0.745 7.95 2.07 0.410 0.300 4.838 0.744573 NA 0.33 0.247324 0.225017 NA 0.239 NA 10.6184094 591 12 109723233 109723233 G A exonic FOXN4 NA synonymous SNV FOXN4:NM_213596:exon8:c.C777T:p.S259S exonic ENSG00000139445 NA nonsynonymous SNV ENSG00000139445:ENST00000423960:exon5:c.C532T:p.R178W Score=381;Name=lod=47 NA 12q24.11 NA NA NA NA rs17177336 0.09 0.09 0.092 0.0998403 0.1352 0.0288 0.1037 0.0749 0.1677 0.14 0.02 0.1 0.09 0.117 0.14 0 D . . . . . . 0.000 P . . . . -0.535 T 0.003 T . 1.59 11.27 -9.23 -2.813 -0.245 17.771 1.590006 1.590006 0 0.134302 0.068316 NA 0.159 NA 10.613498 591 7 1595068 1595068 G A exonic TMEM184A NA nonsynonymous SNV TMEM184A:NM_001097620:exon2:c.C53T:p.A18V exonic ENSG00000164855 NA nonsynonymous SNV ENSG00000164855:ENST00000414730:exon1:c.C53T:p.A18V,ENSG00000164855:ENST00000297477:exon2:c.C53T:p.A18V,ENSG00000164855:ENST00000319010:exon2:c.C53T:p.A18V,ENSG00000164855:ENST00000319018:exon2:c.C53T:p.A18V,ENSG00000164855:ENST00000421923:exon2:c.C53T:p.A18V,ENSG00000164855:ENST00000431208:exon2:c.C53T:p.A18V,ENSG00000164855:ENST00000441933:exon2:c.C53T:p.A18V NA NA 7p22.3 Score=850;Name=V$CREB_Q2 Name=ZNF263,Sin3Ak-20,FOSL2,p300,CTCF,ELF1_(SC-631),GR,SP1,Mxi1_(bHLH) Name=125 NA rs17852421 0.24 0.24 0.229 0.222045 0.2455 0.1915 0.3631 0.1936 0.1677 0.26 0.18 0.33 0.2 0.2486 0.33 0.35 T 0.001 B 0.0 B 0.751 U 1.000 P 0.345 N 1.42 T -0.972 T 0.000 T 0.249 0.291 5.573 -2.47 -0.333 -0.512 6.154 0.290622 NA 0.17 0.22684 0.188656 NA 0.304 NA 10.6123934 591 8 76452313 76452313 G A exonic HNF4G NA nonsynonymous SNV HNF4G:NM_004133:exon1:c.G86A:p.S29N exonic ENSG00000164749 NA nonsynonymous SNV ENSG00000164749:ENST00000396423:exon1:c.G86A:p.S29N Score=437;Name=lod=80 NA 8q21.11 NA NA Name=3 NA rs2943549 0.62 0.62 0.653 0.611821 0.5785 0.3938 0.4827 0.9516 0.5031 0.58 0.44 0.5 0.97 0.5729 0.97 1 T 0.0 B 0.0 B 0.036 N 0.000 P 0.09 N -2.95 D -0.946 T 0.000 T 0.008 -1.98 0.007 3.58 0.925 1.740 8.075 -1.98006 NA 0.87 0.571464 0.894278 NA 0.63 NA 10.6104694 591 2 71012734 71012734 C G exonic FIGLA NA nonsynonymous SNV FIGLA:NM_001004311:exon3:c.G422C:p.S141T exonic ENSG00000183733 NA nonsynonymous SNV ENSG00000183733:ENST00000332372:exon3:c.G422C:p.S141T NA NA 2p13.3 NA Name=GATA-1,Sin3Ak-20,SMC3_(ab9263),Max,c-Myc,CTCF Name=87 NA rs7566476 0.75 0.75 0.762 0.762979 0.5626 0.9077 0.6873 0.882 0.7127 0.57 0.94 0.66 0.88 0.6231 0.94 0.95 T 0.0 B 0.0 B 0.891 N 1.000 P -1.67 N -3.71 D -0.942 T 0.000 T 0.023 -1.681 0.012 3.24 0.701 1.504 6.039 -1.681187 NA 1 0.537964 0.813572 NA 0.71 NA 10.6096694 591 10 78944590 78944590 G A exonic KCNMA1 NA synonymous SNV KCNMA1:NM_001271518:exon3:c.C525T:p.F175F,KCNMA1:NM_001014797:exon4:c.C687T:p.F229F,KCNMA1:NM_001161352:exon4:c.C687T:p.F229F,KCNMA1:NM_001161353:exon4:c.C687T:p.F229F,KCNMA1:NM_001271519:exon4:c.C687T:p.F229F,KCNMA1:NM_002247:exon4:c.C687T:p.F229F exonic ENSG00000156113 NA synonymous SNV ENSG00000156113:ENST00000604624:exon3:c.C270T:p.F90F,ENSG00000156113:ENST00000286627:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000286628:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000354353:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000372408:exon4:c.C498T:p.F166F,ENSG00000156113:ENST00000372437:exon4:c.C492T:p.F164F,ENSG00000156113:ENST00000372440:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000372443:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000404771:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000404857:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000406533:exon4:c.C687T:p.F229F,ENSG00000156113:ENST00000457953:exon4:c.C609T:p.F203F Score=708;Name=lod=1002 NA 10q22.3 NA NA NA NA rs1131824 0.38 0.38 0.408 0.40595 0.335 0.249 0.2695 0.705 0.3333 0.34 0.24 0.3 0.68 0.3605 0.68 . . . . . . . . 0.000 P . . . . -0.927 T 0.000 T . 0.55 6.974 5.31 1.101 1.408 10.553 0.549742 NA NA 0.361512 0.620744 NA 0.413 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117331.2;CLNDSDB=.;CLNDSDBID=. 10.6096546 591 13 44457925 44457925 A G exonic LACC1 NA nonsynonymous SNV LACC1:NM_001128303:exon4:c.A760G:p.I254V,LACC1:NM_153218:exon4:c.A760G:p.I254V exonic ENSG00000179630 NA nonsynonymous SNV ENSG00000179630:ENST00000325686:exon4:c.A760G:p.I254V,ENSG00000179630:ENST00000441843:exon4:c.A760G:p.I254V Score=624;Name=lod=456 Name=Leprosy,Crohn's disease 13q14.11 NA NA Name=20 NA rs3764147 0.3 0.3 0.283 0.305911 0.2266 0.3472 0.3646 0.3048 0.3047 0.24 0.32 0.37 0.33 0.2702 0.37 1 T 0.001 B 0.001 B 0.001 N 0.971 P -0.925 N 1.42 T -0.914 T 0.000 T 0.024 -0.658 1.113 1.94 0.041 2.664 8.856 -0.657608 NA 1 0.230349 0.294371 NA 0.268 NA 10.6061844 591 17 685752 685752 G A exonic RNMTL1 NA nonsynonymous SNV RNMTL1:NM_018146:exon1:c.G134A:p.G45E exonic ENSG00000171861 NA nonsynonymous SNV ENSG00000171861:ENST00000304478:exon1:c.G134A:p.G45E,ENSG00000171861:ENST00000574509:exon1:c.G134A:p.G45E NA NA 17p13.3 NA Name=CHD2_(N-1250),IRF4_(M-17),YY1_(C-20),Pol2(phosphoS2),Pol2,TAF1,TBP,Pol2-4H8,ZNF263,KAP1,HA-E2F1,YY1 NA NA rs2249542 0.16 0.16 0.13 0.152356 0.2525 0.0923 0.1787 0.0469 0.2352 0.25 0.09 0.2 0.06 0.2129 0.26 1 T 0.261 B 0.042 B 0.215 N 0.037 P 1.32 L 2.28 T -1.066 T 0.000 T 0.37 4.081 21 5.5 2.737 1.415 11.768 4.081462 4.081462 0 0.262209 0.085565 NA 0.152 NA 10.6057244 592 13 113909339 113909339 A G exonic CUL4A NA nonsynonymous SNV CUL4A:NM_001008895:exon18:c.A1931G:p.K644R,CUL4A:NM_003589:exon18:c.A1631G:p.K544R exonic ENSG00000139842 NA nonsynonymous SNV ENSG00000139842:ENST00000326335:exon18:c.A1631G:p.K544R,ENSG00000139842:ENST00000375440:exon18:c.A1931G:p.K644R,ENSG00000139842:ENST00000375441:exon18:c.A1631G:p.K544R,ENSG00000139842:ENST00000451881:exon18:c.A1631G:p.K544R Score=420;Name=lod=68 NA 13q34 NA NA NA NA rs2302757 0.22 0.22 0.183 0.251597 0.2326 0.3353 0.3228 0.0136 0.456 0.24 0.32 0.3 0.02 0.2663 0.32 0.16 T 0.009 B 0.054 B 0.000 D 0.001 P 1.45 L -0.87 T -1.072 T 0.000 T 0.019 0.888 8.608 3.77 0.817 3.974 9.167 0.888485 NA 0.17 0.230698 0.049478 NA 0.188 NA 10.6037354 592 9 38396065 38396065 G T exonic ALDH1B1 NA nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.G320T:p.R107L exonic ENSG00000137124 NA nonsynonymous SNV ENSG00000137124:ENST00000377698:exon2:c.G320T:p.R107L Score=441;Name=lod=83 NA 9p13.2 NA Name=JunD NA NA rs2073478 0.42 0.42 0.446 0.394968 0.6093 0.3036 0.3646 0.2572 0.4765 0.6 0.29 0.43 0.28 0.5177 0.6 0.01 D . . . . 0.002 N 0.003 P . . -1.16 T -0.901 T 0.000 T 0.091 3.477 17.79 2.79 0.332 2.228 7.741 3.47651 3.47651 0.01 0.603721 0.307308 ID=COSM1462466;OCCURENCE=1(large_intestine) 0.507 NA 10.6026124 592 7 143043240 143043240 C T exonic CLCN1 NA nonsynonymous SNV CLCN1:NM_000083:exon18:c.C2180T:p.P727L exonic ENSG00000188037 NA nonsynonymous SNV ENSG00000188037:ENST00000343257:exon18:c.C2180T:p.P727L NA NA 7q34 NA Name=CTCF NA NA rs13438232 0.36 0.36 0.363 0.369409 0.4076 0.2768 0.2939 0.4236 0.4059 0.4 0.26 0.34 0.45 0.3974 0.45 0.04 D 0.546 P 0.122 B 0.165 N 0.003 P 0.88 L -1.93 D -0.988 T 0.000 T 0.109 0.686 7.665 3.45 0.825 0.850 4.005 0.685684 NA 0.19 0.426163 0.417612 NA 0.442 NA 10.6021704 592 10 60146061 60146061 T C exonic TFAM NA synonymous SNV TFAM:NM_001270782:exon2:c.T183C:p.S61S,TFAM:NM_003201:exon2:c.T183C:p.S61S exonic ENSG00000108064 NA synonymous SNV ENSG00000108064:ENST00000373895:exon2:c.T183C:p.S61S,ENSG00000108064:ENST00000487519:exon2:c.T183C:p.S61S Score=374;Name=lod=44 NA 10q21.1 Score=855;Name=V$IRF7_01 NA NA NA rs78325627 0.01 0.01 0.011 0.0091853 0.0268 NA 0.0144 0.0008 0.0082 0.03 NA 0.02 NA 0.0168 0.03 . . . . . . . . 0.843 D . . . . . . . . . 1.557 11.16 -3.33 -0.165 -0.679 3.896 1.557243 1.557243 NA 0.021163 0.002043 NA 0.007 NA 10.6019036 592 17 62045555 62045555 G A exonic SCN4A NA synonymous SNV SCN4A:NM_000334:exon6:c.C864T:p.N288N exonic ENSG00000007314 NA synonymous SNV ENSG00000007314:ENST00000435607:exon6:c.C864T:p.N288N,ENSG00000007314:ENST00000578147:exon6:c.C864T:p.N288N Score=657;Name=lod=625 NA 17q23.3 Score=809;Name=V$PAX4_01 Name=USF-1,c-Myc,E2F6,USF2,E2F6_(H-50),Max Name=3 NA rs7218917 0.06 0.06 0.07 0.0736821 0.0179 0.0218 0.0245 0.2103 0.0348 0.01 0.02 0.02 0.2 0.0312 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387215 NA NA 0.015899 0.154111 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118277.1;CLNDSDB=.;CLNDSDBID=. 10.6016676 592 1 79095581 79095581 T C exonic IFI44L NA nonsynonymous SNV IFI44L:NM_006820:exon4:c.T704C:p.I235T exonic ENSG00000137959 NA nonsynonymous SNV ENSG00000137959:ENST00000450498:exon3:c.T635C:p.I212T,ENSG00000137959:ENST00000370751:exon4:c.T704C:p.I235T NA NA 1p31.1 NA Name=Pol2-4H8 NA NA rs987495 0.21 0.21 0.2 0.214457 0.2505 0.245 0.2709 0.1195 0.2342 0.26 0.25 0.23 0.09 0.2367 0.28 0.62 T 0.0 B 0.0 B 0.070 N 1.000 P -0.55 N 2.82 T -0.978 T 0.003 T 0.026 -1.099 0.144 -5.64 -2.136 -1.687 4.079 -1.098806 NA 0.46 0.245465 0.144803 NA 0.341 NA 10.6006684 592 6 31238930 31238930 A C exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon3:c.T539G:p.L180R,HLA-C:NM_002117:exon3:c.T539G:p.L180R exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon3:c.T539G:p.L180R,ENSG00000204525:ENST00000383329:exon3:c.T539G:p.L180R NA NA 6p21.33 NA Name=Pol2-4H8 NA NA rs79636386 0.3 0.3 0.181 0.371206 0.3857 0.372 0.3833 0.3396 0.3896 0.31 0.31 0.33 0.26 0.3478 0.33 0.54 T 0.035 B 0.04 B 0.000 N 1.000 P -0.225 N 9.43 T -0.986 T 0.000 T 0.641 -0.945 0.35 -5.62 -3.815 -5.015 0.750 -0.945417 NA 0.21 NA NA ID=COSM451200,COSM451199;OCCURENCE=1(breast) 0.065 NA 10.5998334 592 2 45169819 45169819 C T exonic SIX3 NA synonymous SNV SIX3:NM_005413:exon1:c.C576T:p.R192R exonic ENSG00000138083 NA synonymous SNV ENSG00000138083:ENST00000260653:exon1:c.C576T:p.R192R Score=756;Name=lod=1581 NA 2p21 Score=885;Name=V$NMYC_01 Name=SUZ12 Name=29 NA rs182881 0.03 0.03 0.027 0.0267572 0.0258 0.003 0.013 0.053 0.0266 0.02 0.0035 0.02 0.07 0.0215 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.968779 NA NA 0.021439 0.044643 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=Holoprosencephaly_2;CLNREVSTAT=single;CLNACC=RCV000055687.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1530:C1834877:157170:ORPHA2162 10.5979276 592 11 2417935 2417935 T C exonic CD81 NA synonymous SNV CD81:NM_004356:exon7:c.T639C:p.A213A exonic ENSG00000110651 NA synonymous SNV ENSG00000110651:ENST00000481687:exon5:c.T657C:p.A219A,ENSG00000110651:ENST00000263645:exon7:c.T639C:p.A213A,ENSG00000110651:ENST00000492252:exon7:c.T618C:p.A206A,ENSG00000110651:ENST00000492627:exon7:c.T426C:p.A142A,ENSG00000110651:ENST00000526072:exon7:c.T426C:p.A142A,ENSG00000110651:ENST00000527343:exon7:c.T606C:p.A202A,ENSG00000110651:ENST00000381036:exon8:c.T753C:p.A251A NA NA 11p15.5 Score=774;Name=V$YY1_02 NA NA NA rs2229751 0.1 0.1 0.093 0.122005 0.0149 0.0317 0.0389 0.3797 0.0358 0.01 0.02 0.04 0.37 0.0437 0.37 . . . . . . . . 0.000 P . . . . -0.961 T 0.000 T . 1.213 9.923 -6.79 -2.053 -3.414 2.211 1.212674 NA NA 0.011165 0.326975 NA 0.145 NA 10.5969016 592 2 73680508 73680508 G C exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon8:c.G6851C:p.R2284P exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000423048:exon1:c.G1685C:p.R562P,ENSG00000116127:ENST00000409009:exon7:c.G6725C:p.R2242P,ENSG00000116127:ENST00000264448:exon8:c.G6851C:p.R2284P,ENSG00000116127:ENST00000377715:exon8:c.G6851C:p.R2284P Score=387;Name=lod=50 NA 2p13.1 NA NA NA NA rs6546839 0.34 0.34 0.351 0.364417 0.2276 0.0089 0.3919 0.8782 0.1575 0.23 0.01 0.35 0.86 0.2696 0.86 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.525 N 3.65 T -0.991 T 0.000 T 0.468 -0.08 3.609 5.49 1.481 2.660 12.855 -0.079949 NA 1 0.23945 0.741962 NA 0.435 NA 10.5966834 592 4 56874517 56874517 A C exonic CEP135 NA nonsynonymous SNV CEP135:NM_025009:exon18:c.A2305C:p.I769L exonic ENSG00000174799 NA nonsynonymous SNV ENSG00000174799:ENST00000257287:exon18:c.A2305C:p.I769L NA NA 4q12 NA NA NA NA rs3214045 0.16 0.16 0.188 0.139177 0.2714 0.0913 0.1182 0.087 0.138 0.28 0.11 0.12 0.08 0.2095 0.28 0.32 T 0.0 B 0.0 B 0.580 N 0.957 P -1.12 N 2.33 T -0.903 T 0.000 T 0.013 -1.216 0.064 -6.14 -0.994 -1.014 7.631 -1.216297 NA 0.61 0.257269 0.120064 NA 0.145 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116668.2;CLNDSDB=.;CLNDSDBID=. 10.5951644 593 18 6997818 6997818 A C exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon33:c.T4729G:p.S1577A exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon33:c.T4729G:p.S1577A NA NA 18p11.31 NA NA NA NA rs12961939 0.18 0.18 0.175 0.149561 0.2684 0.0575 0.1758 0.1513 0.1012 0.28 0.07 0.2 0.15 0.2025 0.28 0.56 T 0.364 B 0.161 B 0.003 N 1.000 P 1.995 M 2.72 T -0.943 T 0.000 T 0.17 1.364 10.49 4.18 2.160 4.299 11.787 1.363916 1.363916 NA 0.268721 0.149342 NA 0.123 NA 10.5937124 593 11 4790268 4790268 C A exonic OR51F1 NA nonsynonymous SNV OR51F1:NM_001004752:exon1:c.G880T:p.D294Y exonic ENSG00000188069 NA nonsynonymous SNV ENSG00000188069:ENST00000343430:exon1:c.G880T:p.D294Y,ENSG00000188069:ENST00000380383:exon1:c.G901T:p.D301Y Score=397;Name=lod=55 NA 11p15.4 NA NA NA NA rs1030726 0.23 0.23 0.245 0.215655 0.2704 NA 0.2017 0.4569 0.0654 0.25 NA 0.23 0.46 0.218 0.46 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.91 N 2.4 T -0.908 T 0.000 T 0.12 -0.499 1.713 5.43 1.085 6.611 11.833 -0.498507 NA 1 0.253374 0.446842 NA 0.29 NA 10.5915594 593 13 103449202 103449202 T C exonic KDELC1 NA nonsynonymous SNV KDELC1:NM_024089:exon2:c.A340G:p.I114V exonic ENSG00000134901 NA nonsynonymous SNV ENSG00000134901:ENST00000376004:exon2:c.A340G:p.I114V Score=567;Name=lod=268 NA 13q33.1 NA NA NA NA rs1047740 0.43 0.43 0.444 0.417532 0.2316 0.4821 0.2752 0.7269 0.2249 0.24 0.53 0.28 0.72 0.2939 0.72 1 T 0.0 B 0.001 B 0.000 N 0.996 P -1.245 N -1.53 D -0.937 T 0.000 T 0.032 -0.171 3.165 4.85 0.884 0.957 10.088 -0.171246 NA 1 0.22 0.652519 NA 0.37 NA 10.5878334 593 17 46847364 46847364 C A exonic TTLL6 NA nonsynonymous SNV TTLL6:NM_173623:exon7:c.G1215T:p.E405D,TTLL6:NM_001130918:exon14:c.G2136T:p.E712D exonic ENSG00000170703 NA nonsynonymous SNV ENSG00000170703:ENST00000433608:exon7:c.G1215T:p.E405D,ENSG00000170703:ENST00000393382:exon14:c.G2136T:p.E712D NA NA 17q21.32 NA NA NA NA rs2032844 0.25 0.25 0.225 0.238219 0.2445 0.1736 0.3905 0.2602 0.1605 0.25 0.16 0.37 0.26 0.2531 0.37 0.09 T 0.999 D 0.994 D 0.000 N 1.000 P 1.845 L . . -1.019 T 0.000 T 0.074 3.541 18.07 -3.84 -0.440 -1.741 5.684 3.541315 3.541315 0 0.249302 0.258057 NA 0.304 NA 10.5864314 593 22 38119213 38119213 G A exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.G650A:p.S217N exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon7:c.G650A:p.S217N Score=243;Name=lod=13 NA 22q13.1 NA NA NA NA rs12628603 0.55 0.55 0.505 0.526558 0.5696 0.7073 0.611 0.3752 0.4407 0.56 0.66 0.6 0.39 0.5697 0.66 0.02 D 0.384 B 0.111 B . . 0.000 P 0.805 L 1.71 T -0.982 T 0.000 T 0.074 2.213 13.36 3.16 1.910 3.006 6.973 2.21308 2.21308 0 0.608307 0.408401 NA 0.543 NA 10.5857264 593 7 23015831 23015831 T C exonic FAM126A NA synonymous SNV FAM126A:NM_032581:exon7:c.A624G:p.S208S exonic ENSG00000122591 NA synonymous SNV ENSG00000122591:ENST00000409923:exon7:c.A624G:p.S208S,ENSG00000122591:ENST00000432176:exon7:c.A624G:p.S208S Score=461;Name=lod=100 NA 7p15.3 NA NA NA NA rs3735231 0.38 0.38 0.368 0.3748 0.3628 0.4663 0.33 0.3578 0.3476 0.36 0.47 0.36 0.31 0.3738 0.47 . . . . . . . . 0.000 P . . . . -0.938 T 0.000 T . 1.901 12.31 5.49 2.092 1.643 15.587 1.900832 1.900832 NA 0.344964 0.343622 NA 0.435 CLINSIG=non-pathogenic;CLNDBN=Hypomyelination_and_Congenital_Cataract;CLNREVSTAT=single;CLNACC=RCV000020929.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK2587:C2674508:610532:ORPHA85163 10.5851026 594 7 82784456 82784456 A G exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon2:c.T1501C:p.S501P,PCLO:NM_033026:exon2:c.T1501C:p.S501P exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon2:c.T1501C:p.S501P,ENSG00000186472:ENST00000423517:exon2:c.T1501C:p.S501P NA NA 7q21.11 Score=818;Name=V$PPARG_03 NA NA NA rs6972461 0.16 0.16 0.141 0.147364 0.2704 0.005 0.183 0.1974 0.0746 0.25 0.01 0.18 0.18 0.2024 0.28 0 D 0.0 B 0.0 B . . 1.000 P -0.35 N 2.38 T -0.956 T 0.000 T 0.042 -2.268 0.004 -8.7 -5.602 -0.017 4.929 -2.268151 NA 0.51 0.27567 0.199177 NA 0.058 NA 10.5848634 594 1 35864571 35864571 A G exonic ZMYM4 NA synonymous SNV ZMYM4:NM_005095:exon22:c.A3360G:p.Q1120Q exonic ENSG00000146463 NA synonymous SNV ENSG00000146463:ENST00000373297:exon20:c.A3093G:p.Q1031Q,ENSG00000146463:ENST00000314607:exon22:c.A3360G:p.Q1120Q Score=630;Name=lod=484 NA 1p34.3 Score=711;Name=V$NRSF_01 NA Name=11 NA rs12040345 0.11 0.11 0.118 0.14397 0.0219 0.0923 0.0418 0.3623 0.1002 0.02 0.06 0.05 0.36 0.0498 0.36 . . . . . . . . 0.000 P . . . . -0.948 T 0.000 T . 0.928 8.779 3.17 0.889 0.366 6.190 0.927843 NA NA 0.010465 0.276214 NA 0.094 NA 10.5845016 594 21 46057711 46057711 G C exonic KRTAP10-10 NA nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.G377C:p.C126S exonic ENSG00000221859 NA nonsynonymous SNV ENSG00000221859:ENST00000380095:exon1:c.G377C:p.C126S Score=376;Name=lod=45 NA 21q22.3 NA NA NA NA rs4818948 0.25 0.25 0.225 0.27516 0.2406 0.0526 0.2233 0.4781 0.3027 0.25 0.05 0.24 0.47 0.2571 0.47 0.16 T 0.157 B 0.114 B . . 0.000 P 3.295 M 4.88 T -1.018 T 0.000 T 0.187 1.174 9.775 2.19 0.411 2.512 4.961 1.173863 NA 0.11 0.251744 0.448025 ID=COSM1130521;OCCURENCE=1(prostate) 0.13 NA 10.5838894 594 14 95912388 95912388 G A exonic SYNE3 NA nonsynonymous SNV SYNE3:NM_152592:exon8:c.C1490T:p.T497M exonic ENSG00000176438 NA nonsynonymous SNV ENSG00000176438:ENST00000554873:exon4:c.C761T:p.T254M,ENSG00000176438:ENST00000334258:exon8:c.C1490T:p.T497M,ENSG00000176438:ENST00000553340:exon8:c.C1490T:p.T497M,ENSG00000176438:ENST00000557275:exon8:c.C1490T:p.T497M NA NA 14q32.13 NA NA NA NA rs61749972 0.06 0.06 0.057 0.0587061 0.0895 0.002 0.0605 0.0424 0.1063 0.09 0.0017 0.08 0.05 0.079 0.09 0.16 T 0.669 P 0.08 B 0.333 N 1.000 N 1.6 L 3.53 T -0.986 T 0.001 T 0.131 2.167 13.2 3.12 1.239 0.954 4.667 2.166674 2.166674 0.27 0.085233 0.057195 NA 0.123 NA 10.5796004 594 5 89703641 89703641 C G exonic CETN3 NA nonsynonymous SNV CETN3:NM_004365:exon2:c.G28C:p.V10L exonic ENSG00000153140 NA nonsynonymous SNV ENSG00000153140:ENST00000518458:exon1:c.G7C:p.V3L,ENSG00000153140:ENST00000283122:exon2:c.G28C:p.V10L,ENSG00000153140:ENST00000522083:exon2:c.G28C:p.V10L,ENSG00000153140:ENST00000522565:exon2:c.G28C:p.V10L,ENSG00000153140:ENST00000522842:exon2:c.G28C:p.V10L,ENSG00000153140:ENST00000522864:exon2:c.G28C:p.V10L Score=673;Name=lod=722 NA 5q14.3 NA Name=CEBPB NA NA rs4873 0.18 0.18 0.172 0.185304 0.2565 0.2034 0.1585 0.0628 0.2781 0.25 0.2 0.17 0.04 0.2291 0.27 0.76 T 0.0 B 0.001 B 0.120 N 0.971 P 0 N -0.13 T -1.091 T 0.000 T 0.071 1.812 12.02 3.64 0.643 2.485 8.043 1.812032 1.812032 0.34 0.269383 0.093594 NA 0.145 NA 10.5783504 594 16 20638576 20638576 A T exonic ACSM1 NA synonymous SNV ACSM1:NM_052956:exon10:c.T1362A:p.G454G exonic;splicing ENSG00000166743;ENSG00000166743 ENST00000519745:exon10:c.1195+2T>A synonymous SNV ENSG00000166743:ENST00000307493:exon10:c.T1362A:p.G454G,ENSG00000166743:ENST00000219151:exon11:c.T315A:p.G105G,ENSG00000166743:ENST00000520010:exon11:c.T1362A:p.G454G NA NA 16p12.3 Score=751;Name=V$HOX13_01 Name=JunD NA NA rs1692729 0.58 0.58 0.607 0.605831 0.326 0.8512 0.3372 0.7844 0.59 0.34 0.88 0.36 0.76 0.4388 0.88 . . . . . . . . 1.000 P . . . . -1.082 T 0.000 T . -1.945 0.007 -8.45 -2.291 -5.201 7.086 -1.945169 NA NA 0.325233 0.73194 NA 0.565 NA 10.5766336 595 19 41512841 41512841 G T exonic CYP2B6 NA nonsynonymous SNV CYP2B6:NM_000767:exon4:c.G516T:p.Q172H exonic ENSG00000197408 NA nonsynonymous SNV ENSG00000197408:ENST00000324071:exon4:c.G516T:p.Q172H NA NA 19q13.2 NA NA NA NA rs3745274 0.27 0.27 0.24 0.315695 0.2356 0.2153 0.3732 0.3744 0.3814 0.23 0.18 0.36 0.35 0.2732 0.37 0.12 T 0.001 B 0.005 B 0.000 N 1.000 P 0.53 N -0.41 T -1.034 T 0.000 T 0.07 0.704 7.755 -8.96 -1.641 -1.320 1.071 0.704176 NA 0.26 0.249767 0.369723 NA 0.239 CLINSIG=pathogenic|other;CLNDBN=Efavirenz\x2c_poor_metabolism_of|Efavirenz_central_nervous_system_toxicity\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000022520.23|RCV000022521.2;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C3281153:614546|CN122725 10.5747664 595 12 4388084 4388084 C G exonic CCND2 NA synonymous SNV CCND2:NM_001759:exon3:c.C570G:p.T190T exonic ENSG00000118971 NA synonymous SNV ENSG00000118971:ENST00000261254:exon3:c.C570G:p.T190T Score=531;Name=lod=192 NA 12p13.32 NA Name=Pol2,CEBPB,Pol2-4H8 Name=24 NA rs3217805 0.25 0.25 0.251 0.219848 0.3787 0.0833 0.2781 0.1679 0.226 0.39 0.1 0.31 0.18 0.3226 0.39 . . . . . . . . 0.000 P . . . . -0.937 T 0.000 T . -0.343 2.376 -7.54 -1.038 -0.106 2.657 -0.343256 NA NA 0.392791 0.19655 NA 0.333 NA 10.5725756 595 2 241713646 241713646 A G exonic KIF1A NA synonymous SNV KIF1A:NM_004321:exon11:c.T991C:p.L331L,KIF1A:NM_001244008:exon12:c.T991C:p.L331L exonic ENSG00000130294 NA synonymous SNV ENSG00000130294:ENST00000404283:exon11:c.T991C:p.L331L,ENSG00000130294:ENST00000320389:exon12:c.T991C:p.L331L,ENSG00000130294:ENST00000498729:exon12:c.T991C:p.L331L Score=555;Name=lod=241 NA 2q37.3 Score=807;Name=V$ARP1_01 NA NA NA rs1063353 0.5 0.5 0.568 0.513578 0.3618 0.622 0.3631 0.7428 0.3548 0.36 0.61 0.32 0.72 0.3862 0.72 . . . . . . 0.000 U 0.000 P . . . . -0.957 T 0.000 T . 0.266 5.44 4.33 0.820 6.463 12.066 0.266237 NA NA 0.346616 0.650117 NA 0.652 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000117403.2;CLNDSDB=.;CLNDSDBID=. 10.5720506 595 19 35612159 35612159 C G exonic FXYD3 NA nonsynonymous SNV FXYD3:NM_001136010:exon5:c.C107G:p.P36R,FXYD3:NM_001136009:exon6:c.C107G:p.P36R exonic ENSG00000089356 NA nonsynonymous SNV ENSG00000089356:ENST00000603449:exon4:c.C107G:p.P36R,ENSG00000089356:ENST00000454903:exon5:c.C107G:p.P36R,ENSG00000089356:ENST00000605552:exon5:c.C107G:p.P36R NA NA 19q13.12 NA Name=BAF155 NA NA rs2290649 0.28 0.28 0.241 0.236821 0.2455 0.2798 0.415 0.1815 0.1319 0.25 0.33 0.38 0.21 0.2652 0.38 . . 0.0 B 0.0 B . . 1.000 P . . . . -0.980 T 0.000 T 0.004 -0.458 1.879 -8.32 -2.597 -1.795 4.253 -0.458439 NA 0 0.25314 0.198593 NA 0.312 NA 10.5694934 595 9 139929435 139929435 A G exonic C9orf139 NA nonsynonymous SNV C9orf139:NM_207511:exon3:c.A502G:p.K168E exonic ENSG00000180539 NA nonsynonymous SNV ENSG00000180539:ENST00000314330:exon3:c.A502G:p.K168E NA NA 9q34.3 NA Name=EBF,TBP,NFKB,IRF4_(M-17),BCL11A,EBF1_(C-8),BATF Name=8 NA rs12337910 0.08 0.08 0.082 0.0884585 0.1004 0.0337 0.0937 0.1604 0.0317 0.08 0.03 0.08 0.14 0.0804 0.18 0.87 T 0.612 P 0.181 B . . 1.000 P 0 N 0.56 T -1.088 T 0.000 T 0.008 0.625 7.36 0.229 0.021 -2.228 2.346 0.624706 NA NA 0.085797 0.179254 NA 0.203 NA 10.5667364 596 14 51225132 51225132 G T exonic NIN NA synonymous SNV NIN:NM_020921:exon18:c.C2616A:p.A872A,NIN:NM_182944:exon18:c.C2616A:p.A872A,NIN:NM_182946:exon18:c.C2616A:p.A872A exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000530997:exon16:c.C2616A:p.A872A,ENSG00000100503:ENST00000245441:exon18:c.C2616A:p.A872A,ENSG00000100503:ENST00000324330:exon18:c.C2616A:p.A872A,ENSG00000100503:ENST00000382041:exon18:c.C2616A:p.A872A,ENSG00000100503:ENST00000453196:exon18:c.C2616A:p.A872A,ENSG00000100503:ENST00000476352:exon18:c.C2616A:p.A872A Score=369;Name=lod=42 NA 14q22.1 NA NA NA NA rs2073349 0.4 0.4 0.386 0.38758 0.3628 0.5099 0.4712 0.3033 0.3415 0.37 0.52 0.48 0.26 0.3775 0.52 . . . . . . . . 0.000 P . . . . -0.886 T 0.000 T . 0.627 7.37 4.85 2.756 2.971 16.768 0.62662 NA NA 0.367791 0.288924 NA 0.29 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117798.2;CLNDSDB=.;CLNDSDBID=. 10.5585756 596 3 12859004 12859004 A C exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon8:c.A2294C:p.H765P,CAND2:NM_001162499:exon10:c.A2573C:p.H858P exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon8:c.A2294C:p.H765P,ENSG00000144712:ENST00000456430:exon10:c.A2573C:p.H858P Score=462;Name=lod=101 NA 3p25.2 Score=772;Name=V$PAX5_02 NA NA NA rs3732678 0.57 0.57 0.609 0.572284 0.6382 0.2897 0.4755 0.9713 0.3252 0.62 0.26 0.46 0.94 0.542 0.94 0.29 T 0.0 B 0.0 B 0.204 N 0.000 P -0.805 N -0.11 T -0.992 T 0.000 T 0.039 0.478 6.595 3.88 1.150 2.850 10.525 0.478073 NA 0.4 0.596667 0.905637 NA 0.659 NA 10.5564664 596 14 97321689 97321689 C T exonic VRK1 NA synonymous SNV VRK1:NM_003384:exon8:c.C705T:p.G235G exonic ENSG00000100749 NA synonymous SNV ENSG00000100749:ENST00000216639:exon8:c.C705T:p.G235G Score=551;Name=lod=232 NA 14q32.2 Score=810;Name=V$HMX1_01 NA NA NA rs2230532 0.46 0.46 0.428 0.416733 0.3698 0.8442 0.4928 0.1649 0.3108 0.36 0.85 0.44 0.16 0.3892 0.85 . . . . . . . . 0.000 P . . . . -1.060 T 0.000 T . 1.05 9.288 -6.05 -1.420 -0.690 9.119 1.049864 NA NA 0.351395 0.170903 NA 0.435 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118848.2;CLNDSDB=.;CLNDSDBID=. 10.5562716 597 3 196674749 196674749 C T exonic PIGZ NA nonsynonymous SNV PIGZ:NM_025163:exon3:c.G1019A:p.R340Q exonic ENSG00000119227 NA nonsynonymous SNV ENSG00000119227:ENST00000412723:exon3:c.G1019A:p.R340Q Score=243;Name=lod=13 NA 3q29 Score=888;Name=V$RFX1_01 Name=CTCF,NRSF NA NA rs4916589 0.65 0.65 0.674 0.632188 0.6034 0.7659 0.5692 0.6815 0.502 0.6 0.8 0.54 0.64 0.5911 0.8 0.61 T 0.0 B 0.0 B 0.103 N 0.002 P -1.65 N 0.04 T -0.954 T 0.000 T 0.046 -1.085 0.158 3.4 0.923 1.385 1.287 -1.08454 NA NA 0.584478 0.652973 NA 0.529 NA 10.5543554 597 19 51957556 51957556 T C exonic SIGLEC8 NA nonsynonymous SNV SIGLEC8:NM_014442:exon6:c.A1162G:p.R388G exonic ENSG00000105366 NA nonsynonymous SNV ENSG00000105366:ENST00000430817:exon4:c.A835G:p.R279G,ENSG00000105366:ENST00000340550:exon5:c.A883G:p.R295G,ENSG00000105366:ENST00000321424:exon6:c.A1162G:p.R388G NA NA 19q13.41 NA NA NA NA rs3829659 0.33 0.33 0.306 0.326877 0.2714 0.2321 0.255 0.5461 0.2362 0.29 0.24 0.3 0.53 0.2666 0.54 0.03 D 1.0 D 0.962 D . . 1.000 P 2.82 M 0.62 T -0.968 T 0.000 T 0.036 1.608 11.33 -0.073 -0.079 -0.711 4.310 1.607566 1.607566 0.03 0.242907 0.536768 ID=COSM148699;OCCURENCE=1(stomach) 0.341 NA 10.5524264 597 20 42331457 42331457 A G exonic MYBL2 NA nonsynonymous SNV MYBL2:NM_002466:exon8:c.A1279G:p.S427G exonic ENSG00000101057 NA nonsynonymous SNV ENSG00000101057:ENST00000396863:exon7:c.A1207G:p.S403G,ENSG00000101057:ENST00000217026:exon8:c.A1279G:p.S427G Score=542;Name=lod=212 NA 20q13.12 NA NA NA NA rs2070235 0.15 0.15 0.165 0.15655 0.0885 0.1002 0.0807 0.3124 0.1278 0.09 0.12 0.08 0.33 0.108 0.33 0.41 T 0.78 P 0.192 B 0.019 N 0.480 P 0 N 2.53 T -0.903 T 0.000 T 0.033 0.92 8.745 2.73 0.867 2.611 6.869 0.919897 NA 0.61 0.085814 0.282796 NA 0.138 NA 10.5510194 597 2 28827625 28827625 C T exonic PLB1 NA nonsynonymous SNV PLB1:NM_001170585:exon40:c.C2927T:p.A976V,PLB1:NM_153021:exon41:c.C2960T:p.A987V exonic ENSG00000163803 NA nonsynonymous SNV ENSG00000163803:ENST00000444257:exon1:c.C32T:p.A11V,ENSG00000163803:ENST00000422425:exon40:c.C2927T:p.A976V,ENSG00000163803:ENST00000327757:exon41:c.C2960T:p.A987V NA NA 2p23.2 NA NA NA NA rs34289907 0.06 0.06 0.054 0.043131 0.1054 NA 0.0634 0.025 0.0337 0.11 NA 0.09 0.02 0.0733 0.11 0.1 T 0.966 D 0.513 P 0.289 N 0.000 P 1.905 M 0.5 T -0.949 T 0.004 T 0.248 3.315 17.14 -5.37 -0.605 -0.209 8.837 3.31471 3.31471 0.16 0.107209 0.032229 NA 0.014 NA 10.5474244 597 6 144869785 144869785 A G exonic UTRN NA nonsynonymous SNV UTRN:NM_007124:exon46:c.A6605G:p.N2202S exonic ENSG00000152818 NA nonsynonymous SNV ENSG00000152818:ENST00000367545:exon46:c.A6605G:p.N2202S NA NA 6q24.2 NA Name=GATA-2,Rad21,CTCF Name=5 NA rs1534443 0.36 0.36 0.357 0.373003 0.2515 0.5952 0.2147 0.3328 0.4356 0.24 0.62 0.24 0.33 0.3007 0.62 0.97 T 0.0 B 0.0 B 0.569 N 1.000 P -0.205 N 0.34 T -1.090 T 0.014 T 0.012 -0.427 2.009 -6.34 -1.221 -0.108 2.057 -0.427481 NA 0.89 0.234419 0.297549 NA 0.268 NA 10.5467144 597 7 143088867 143088867 T C exonic EPHA1 NA nonsynonymous SNV EPHA1:NM_005232:exon17:c.A2698G:p.M900V exonic ENSG00000146904 NA nonsynonymous SNV ENSG00000146904:ENST00000275815:exon17:c.A2698G:p.M900V Score=376;Name=lod=45 NA 7q34 Score=933;Name=V$TCF11_01 Name=Pol2-4H8 Name=77 NA rs6967117 0.95 0.95 0.945 0.960264 0.9245 1 0.9798 0.9198 0.9969 0.91 1 0.98 0.93 0.9366 1 1 T 0.0 B 0.0 B 0.017 N 1.000 P -1.955 N 0.14 T -0.961 T 0.000 T 0.056 -1.962 0.007 3.78 0.704 1.959 8.653 -1.962456 NA 1 0.926047 0.916704 NA 0.913 NA 10.5461864 597 11 125891162 125891162 A G exonic CDON NA synonymous SNV CDON:NM_001243597:exon3:c.T330C:p.P110P,CDON:NM_016952:exon3:c.T330C:p.P110P exonic ENSG00000064309 NA synonymous SNV ENSG00000064309:ENST00000263577:exon3:c.T330C:p.P110P,ENSG00000064309:ENST00000392693:exon3:c.T330C:p.P110P,ENSG00000064309:ENST00000527967:exon3:c.T330C:p.P110P,ENSG00000064309:ENST00000531586:exon3:c.T330C:p.P110P,ENSG00000064309:ENST00000534818:exon3:c.T330C:p.P110P Score=304;Name=lod=23 NA 11q24.2 Score=776;Name=V$PAX5_01 NA NA NA rs35131477 0.02 0.02 0.015 0.0263578 0.0368 0.005 0.0331 0.0144 0.0491 0.04 0.01 0.04 0.01 0.0371 0.048 . . . . . . . . 1.000 D . . . . -1.078 T 0.025 T . -0.562 1.462 -0.615 -0.126 -0.611 3.771 -0.562135 NA NA 0.047453 0.027033 NA 0.072 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081796.1;CLNDSDB=.;CLNDSDBID=. 10.5453136 598 6 42906384 42906384 G T exonic CNPY3 NA nonsynonymous SNV CNPY3:NM_006586:exon6:c.G692T:p.S231I exonic ENSG00000137161 NA nonsynonymous SNV ENSG00000137161:ENST00000372836:exon6:c.G692T:p.S231I Score=553;Name=lod=236 NA 6p21.1 NA NA NA NA rs9471969 0.21 0.21 0.206 0.213858 0.2744 0.0149 0.2075 0.3328 0.2004 0.28 0.02 0.22 0.32 0.2603 0.32 0.17 T 0.38 B 0.085 B 0.029 N 0.000 P 0 N 1.84 T -1.043 T 0.017 T 0.134 3.15 16.53 5.02 2.504 4.641 15.613 3.149626 3.149626 0.22 0.255757 0.322061 NA 0.246 NA 10.5428764 598 5 55407542 55407542 C T exonic ANKRD55 NA nonsynonymous SNV ANKRD55:NM_024669:exon10:c.G1033A:p.V345M exonic ENSG00000164512 NA nonsynonymous SNV ENSG00000164512:ENST00000434982:exon2:c.G169A:p.V57M,ENSG00000164512:ENST00000504958:exon8:c.G904A:p.V302M,ENSG00000164512:ENST00000341048:exon10:c.G1033A:p.V345M Score=495;Name=lod=137 NA 5q11.2 NA Name=JunD NA NA rs321776 0.22 0.22 0.205 0.207867 0.2803 0.2927 0.1254 0.0658 0.2965 0.28 0.31 0.17 0.06 0.243 0.31 0.35 T 0.003 B 0.001 B 0.000 N 0.007 P -0.345 N 1.57 T -0.942 T 0.000 T 0.068 -1.993 0.007 -3.45 -1.167 -0.316 13.739 -1.993416 NA 1 0.268953 0.09714 NA 0.116 NA 10.5410804 598 12 427575 427575 A G exonic KDM5A NA nonsynonymous SNV KDM5A:NM_001042603:exon19:c.T2594C:p.M865T exonic ENSG00000073614 NA nonsynonymous SNV ENSG00000073614:ENST00000544760:exon10:c.T1451C:p.M484T,ENSG00000073614:ENST00000382815:exon19:c.T2594C:p.M865T,ENSG00000073614:ENST00000399788:exon19:c.T2594C:p.M865T Score=585;Name=lod=319 NA 12p13.33 Score=805;Name=V$PBX1_02 NA NA NA rs11062385 0.35 0.35 0.335 0.353035 0.2326 0.5109 0.3199 0.3321 0.3661 0.24 0.51 0.32 0.37 0.3102 0.51 0.42 T 0.001 B 0.004 B 0.002 N 0.520 P -0.695 N 1.05 T -0.915 T 0.000 T 0.237 0.477 6.591 3.99 0.760 3.908 6.180 0.477457 NA 0.51 0.253773 0.316694 NA 0.29 NA 10.5367604 598 7 100373077 100373077 C G exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon32:c.C5904G:p.F1968L,ENSG00000146839:ENST00000542585:exon32:c.C5904G:p.F1968L,ENSG00000146839:ENST00000546213:exon32:c.C1437G:p.F479L,ENSG00000146839:ENST00000546292:exon32:c.C5904G:p.F1968L Score=378;Name=lod=46 NA 7q22.1 NA NA NA NA rs542137 0.47 0.47 0.416 0.445288 0.3419 0.7867 0.5418 0.2133 0.4448 0.35 0.82 0.52 0.21 0.4252 0.82 0.27 T 0.95 P 0.629 P 0.011 N 0.990 P . . 2.5 T -1.137 T 0.000 T 0.428 1.947 12.47 4.26 2.303 1.241 12.873 1.947026 1.947026 NA 0.363288 0.223587 NA 0.297 NA 10.5362787 599 1 95330372 95330372 G A exonic SLC44A3 NA nonsynonymous SNV SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I exonic ENSG00000143036 NA nonsynonymous SNV ENSG00000143036:ENST00000446120:exon10:c.G1204A:p.V402I,ENSG00000143036:ENST00000467909:exon10:c.G1168A:p.V390I,ENSG00000143036:ENST00000527077:exon10:c.G1108A:p.V370I,ENSG00000143036:ENST00000532427:exon10:c.G1072A:p.V358I,ENSG00000143036:ENST00000271227:exon11:c.G1312A:p.V438I,ENSG00000143036:ENST00000529450:exon11:c.G1216A:p.V406I NA NA 1p21.3 NA Name=GR Name=51 NA rs859098 0.78 0.78 0.759 0.754593 0.7813 0.9831 0.8141 0.4841 0.8149 0.78 0.99 0.82 0.52 0.7701 0.99 0.09 T 0.848 P 0.366 B 0.027 N 1.000 P 1.87 L 2.26 T -1.103 T 0.030 T 0.056 1.269 10.14 5.63 2.644 3.330 13.912 1.269144 1.269144 0.08 0.747326 0.547662 NA 0.652 NA 10.5346074 599 17 27286851 27286851 T C exonic SEZ6 NA nonsynonymous SNV SEZ6:NM_001098635:exon8:c.A1636G:p.T546A,SEZ6:NM_178860:exon8:c.A1636G:p.T546A exonic ENSG00000063015 NA nonsynonymous SNV ENSG00000063015:ENST00000540632:exon7:c.A1414G:p.T472A,ENSG00000063015:ENST00000317338:exon8:c.A1636G:p.T546A,ENSG00000063015:ENST00000360295:exon8:c.A1636G:p.T546A,ENSG00000063015:ENST00000442608:exon8:c.A1636G:p.T546A Score=590;Name=lod=333 NA 17q11.2 NA NA NA NA rs1976165 0.31 0.31 0.297 0.360423 0.2525 0.244 0.317 0.4977 0.4366 0.23 0.25 0.31 0.49 0.2953 0.49 0.27 T 0.0 B 0.0 B 0.000 N 0.000 P 1.04 L -0.06 T -0.940 T 0.000 T 0.131 1.848 12.14 5.07 1.281 5.780 11.883 1.84811 1.84811 0.85 0.254953 0.428845 NA 0.406 NA 10.5305804 599 1 196642233 196642233 G A exonic CFH NA nonsynonymous SNV CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I exonic ENSG00000000971 NA nonsynonymous SNV ENSG00000000971:ENST00000359637:exon2:c.G184A:p.V62I,ENSG00000000971:ENST00000367429:exon2:c.G184A:p.V62I,ENSG00000000971:ENST00000439155:exon2:c.G184A:p.V62I NA Name=Circulating myeloperoxidase levels (serum) 1q31.3 NA NA NA NA rs800292 0.43 0.43 0.435 0.468051 0.2604 0.4067 0.4193 0.7912 0.3425 0.26 0.41 0.38 0.78 0.321 0.78 0.3 T 0.0 B 0.0 B . . 1.000 P -2.42 N -0.09 T -0.942 T 0.000 T 0.082 -0.457 1.885 5.12 0.801 1.734 7.815 -0.456897 NA 1 0.221977 0.707898 ID=COSM146716;OCCURENCE=1(stomach) 0.478 CLINSIG=other;CLNDBN=Age-related_macular_degeneration_4;CLNREVSTAT=single;CLNACC=RCV000018017.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1853147:610698 10.5299564 600 10 88277457 88277457 C T exonic WAPAL NA nonsynonymous SNV WAPAL:NM_015045:exon2:c.G370A:p.V124I exonic ENSG00000062650 NA nonsynonymous SNV ENSG00000062650:ENST00000298767:exon2:c.G370A:p.V124I Score=536;Name=lod=201 NA 10q23.2 Score=913;Name=V$TCF11_01 NA Name=4 NA rs10887621 0.18 0.18 0.16 0.192492 0.2803 0.1776 0.1239 0.0643 0.3395 0.28 0.17 0.13 0.08 0.2475 0.28 0.08 T 0.06 B 0.02 B 0.524 N 0.056 P 0 N 1.96 T -0.951 T 0.000 T 0.01 0.904 8.675 1.12 0.323 1.529 10.075 0.90375 NA 0.08 0.282093 0.104857 NA 0.145 NA 10.5234404 600 11 7817852 7817852 C G exonic OR5P2 NA nonsynonymous SNV OR5P2:NM_153444:exon1:c.G638C:p.C213S exonic ENSG00000183303 NA nonsynonymous SNV ENSG00000183303:ENST00000329434:exon1:c.G638C:p.C213S Score=317;Name=lod=26 NA 11p15.4 NA NA NA NA rs76615008 0.27 0.27 0.257 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 0.2552 0.37 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.99 N 1.33 T -0.903 T 0.000 T 0.079 -0.573 1.419 5.5 1.580 3.226 14.363 -0.573385 NA 1 0.282386 0.325736 NA 0.261 NA 10.5194474 600 2 8871342 8871342 C A exonic KIDINS220 NA nonsynonymous SNV KIDINS220:NM_020738:exon30:c.G4824T:p.Q1608H exonic ENSG00000134313 NA nonsynonymous SNV ENSG00000134313:ENST00000418530:exon28:c.G4527T:p.Q1509H,ENSG00000134313:ENST00000427284:exon29:c.G4767T:p.Q1589H,ENSG00000134313:ENST00000473731:exon29:c.G4767T:p.Q1589H,ENSG00000134313:ENST00000256707:exon30:c.G4824T:p.Q1608H Score=304;Name=lod=23 NA 2p25.1 NA NA Name=3 NA rs1044280 0.23 0.23 0.245 0.235024 0.2893 0.1637 0.2435 0.2368 0.2444 0.3 0.16 0.23 0.22 0.2626 0.3 0.07 T 0.002 B 0.009 B 0.006 N 0.000 P 0.895 L -0.29 T -1.054 T 0.000 T 0.063 1.714 11.69 2.88 1.481 -0.047 9.766 1.714197 1.714197 0.05 0.26329 0.21824 NA 0.377 NA 10.5181434 600 11 7818056 7818056 T C exonic OR5P2 NA nonsynonymous SNV OR5P2:NM_153444:exon1:c.A434G:p.Y145C exonic ENSG00000183303 NA nonsynonymous SNV ENSG00000183303:ENST00000329434:exon1:c.A434G:p.Y145C NA NA 11p15.4 NA NA NA NA rs73406604 0.27 0.27 0.262 0.236422 0.2763 0.128 0.2911 0.3472 0.1186 0.29 0.15 0.28 0.37 0.2572 0.37 0.02 D 0.023 B 0.169 B 0.000 D 1.000 P 2.095 M 1.15 T -0.991 T 0.000 T 0.261 0.266 5.438 3.18 0.511 0.078 4.477 0.265978 NA 0 0.282502 0.326108 ID=COSM1559363;OCCURENCE=1(central_nervous_system) 0.261 NA 10.5173314 600 11 59623378 59623378 C A exonic TCN1 NA nonsynonymous SNV TCN1:NM_001062:exon6:c.G901T:p.D301Y exonic ENSG00000134827 NA nonsynonymous SNV ENSG00000134827:ENST00000257264:exon6:c.G901T:p.D301Y Score=376;Name=lod=45 NA 11q12.1 NA NA NA NA rs34324219 0.07 0.07 0.065 0.0523163 0.1153 NA 0.0663 0.0454 0.0409 0.13 NA 0.08 0.05 0.0874 0.13 0.01 D 0.795 P 0.437 B 0.009 N 1.000 N 2.51 M 0.74 T -1.098 T 0.002 T 0.196 2.178 13.24 1.77 0.072 -0.220 3.586 2.178076 2.178076 0 0.114668 0.068832 ID=COSM1579601;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.043 NA 10.5159654 600 10 115609915 115609915 C G exonic DCLRE1A NA nonsynonymous SNV DCLRE1A:NM_014881:exon2:c.G949C:p.D317H,DCLRE1A:NM_001271816:exon3:c.G949C:p.D317H exonic ENSG00000198924 NA nonsynonymous SNV ENSG00000198924:ENST00000361384:exon2:c.G949C:p.D317H,ENSG00000198924:ENST00000369305:exon3:c.G949C:p.D317H Score=317;Name=lod=26 NA 10q25.3 Score=862;Name=V$BACH2_01 NA NA NA rs3750898 0.7 0.7 0.651 0.657748 0.7942 0.8185 0.817 0.3086 0.7106 0.78 0.83 0.81 0.35 0.7562 0.83 0.07 T 0.993 D 0.72 P 0.656 N 0.936 P 1.79 L -0.29 T -1.003 T 0.000 T 0.078 3.705 18.82 4.13 1.517 0.905 10.130 3.704827 3.704827 0.02 0.767791 0.384249 NA 0.659 NA 10.5151424 601 21 31587793 31587793 A G exonic CLDN8 NA nonsynonymous SNV CLDN8:NM_199328:exon1:c.T451C:p.S151P exonic ENSG00000156284 NA nonsynonymous SNV ENSG00000156284:ENST00000286809:exon1:c.T451C:p.S151P,ENSG00000156284:ENST00000399899:exon1:c.T451C:p.S151P Score=540;Name=lod=208 NA 21q22.11 NA NA NA NA rs686364 0.4 0.4 0.445 0.41873 0.2773 0.4484 0.2651 0.7216 0.2331 0.26 0.42 0.28 0.69 0.2974 0.69 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.91 N -2.42 D -0.903 T 0.000 T 0.07 -1.43 0.021 3.96 0.776 7.728 11.447 -1.42969 NA 1 0.243953 0.658193 NA 0.478 NA 10.5146804 601 8 99030280 99030280 T C exonic MATN2 NA synonymous SNV MATN2:NM_002380:exon12:c.T1755C:p.D585D,MATN2:NM_030583:exon12:c.T1755C:p.D585D exonic ENSG00000132561 NA synonymous SNV ENSG00000132561:ENST00000520016:exon11:c.T1755C:p.D585D,ENSG00000132561:ENST00000522025:exon11:c.T903C:p.D301D,ENSG00000132561:ENST00000524308:exon11:c.T1632C:p.D544D,ENSG00000132561:ENST00000254898:exon12:c.T1755C:p.D585D,ENSG00000132561:ENST00000521689:exon12:c.T1755C:p.D585D NA NA 8q22.2 Score=801;Name=V$PAX3_01 Name=E2F6_(H-50) Name=4 NA rs2248014 0.67 0.67 0.669 0.654752 0.7167 0.4325 0.7435 0.8404 0.5061 0.73 0.41 0.72 0.85 0.6787 0.85 . . . . . . . . 1.000 P . . . . . . . . . -1.06 0.184 -7.86 -1.622 -5.375 2.155 -1.059806 NA NA 0.757106 0.843095 NA 0.761 NA 10.5141606 601 19 6904137 6904137 C T exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256254:exon5:c.C470T:p.A157V,EMR1:NM_001256252:exon7:c.C737T:p.A246V,EMR1:NM_001256253:exon8:c.C893T:p.A298V,EMR1:NM_001974:exon8:c.C893T:p.A298V exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000381407:exon5:c.C470T:p.A157V,ENSG00000174837:ENST00000381404:exon7:c.C737T:p.A246V,ENSG00000174837:ENST00000250572:exon8:c.C893T:p.A298V,ENSG00000174837:ENST00000312053:exon8:c.C893T:p.A298V NA NA 19p13.2 NA NA NA NA rs370094 0.42 0.42 0.433 0.432708 0.2396 0.4554 0.4193 0.6664 0.3016 0.24 0.49 0.38 0.65 0.3229 0.65 0.1 T 0.001 B 0.006 B . . 1.000 P 0.615 N -3.01 D -1.044 T 0.000 T 0.026 -0.301 2.567 -7.78 -3.955 -2.439 3.682 -0.300602 NA 0.27 0.257209 0.588743 NA 0.428 NA 10.5136244 601 11 120175749 120175749 A G exonic POU2F3 NA nonsynonymous SNV POU2F3:NM_001244682:exon7:c.A461G:p.H154R,POU2F3:NM_014352:exon7:c.A455G:p.H152R exonic ENSG00000137709 NA nonsynonymous SNV ENSG00000137709:ENST00000260264:exon7:c.A461G:p.H154R,ENSG00000137709:ENST00000543440:exon7:c.A455G:p.H152R Score=399;Name=lod=56 NA 11q23.3 NA NA NA NA rs7110845 0.76 0.76 0.78 0.830272 0.5567 0.9405 0.7104 0.9682 0.8967 0.56 0.94 0.65 0.95 0.6878 0.95 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.32 N -1.51 D -0.936 T 0.000 T 0.044 0.852 8.445 6.17 1.644 7.551 15.859 0.851801 NA 1 0.575599 0.891512 NA 0.877 NA 10.5132344 601 8 23423669 23423669 A G exonic SLC25A37 NA nonsynonymous SNV SLC25A37:NM_016612:exon2:c.A259G:p.I87V exonic ENSG00000147454 NA nonsynonymous SNV ENSG00000147454:ENST00000290075:exon2:c.A259G:p.I87V,ENSG00000147454:ENST00000417331:exon2:c.A259G:p.I87V,ENSG00000147454:ENST00000519973:exon2:c.A259G:p.I87V,ENSG00000147454:ENST00000523930:exon2:c.A202G:p.I68V Score=259;Name=lod=15 NA 8p21.2 Score=827;Name=V$FREAC3_01 NA NA NA rs2942194 0.2 0.2 0.174 0.173123 0.2922 0.2163 0.2421 0.0197 0.1646 0.28 0.2 0.28 0.02 0.2538 0.28 1 T 0.0 B 0.003 B 0.000 N 0.190 P -0.47 N -1.26 T -1.066 T 0.000 T 0.097 0.156 4.84 3.49 0.457 4.460 5.027 0.156136 NA 0.84 0.276492 0.059701 NA 0.174 NA 10.5108414 601 5 95236459 95236459 C T exonic ELL2 NA nonsynonymous SNV ELL2:NM_012081:exon7:c.G892A:p.A298T exonic ENSG00000118985 NA nonsynonymous SNV ENSG00000118985:ENST00000513343:exon4:c.G346A:p.A116T,ENSG00000118985:ENST00000237853:exon7:c.G892A:p.A298T Score=558;Name=lod=247 NA 5q15 NA NA NA NA rs3815768 0.33 0.33 0.323 0.341653 0.2803 0.4325 0.2392 0.3699 0.3456 0.29 0.43 0.23 0.35 0.2822 0.43 1 T 0.0 B 0.003 B 0.001 N 0.000 P -1.555 N 2.06 T -0.919 T 0.000 T 0.123 1.217 9.94 3.65 1.374 1.128 4.893 1.21735 NA 0.63 0.261395 0.349069 NA 0.377 NA 10.5094384 601 17 72588806 72588806 C A exonic C17orf77 NA stopgain C17orf77:NM_152460:exon3:c.C621A:p.C207X exonic ENSG00000182352 NA stopgain ENSG00000182352:ENST00000328023:exon2:c.C621A:p.C207X,ENSG00000182352:ENST00000392620:exon3:c.C621A:p.C207X NA NA 17q25.1 NA NA Name=6 NA rs545652 0.21 0.21 0.227 0.223642 0.1392 0.0476 0.1441 0.5189 0.1493 0.14 0.04 0.19 0.52 0.1788 0.52 . . . . . . . . 0.895 P . . . . . . . . . 4.352 22.9 2.38 1.642 -0.036 8.346 4.351629 4.351629 NA 0.172674 0.446891 NA 0.225 NA 10.509326 601 2 218683154 218683154 A G exonic TNS1 NA nonsynonymous SNV TNS1:NM_022648:exon24:c.T3589C:p.W1197R exonic ENSG00000079308 NA nonsynonymous SNV ENSG00000079308:ENST00000446688:exon6:c.T1003C:p.W335R,ENSG00000079308:ENST00000430930:exon21:c.T3526C:p.W1176R,ENSG00000079308:ENST00000419504:exon22:c.T3550C:p.W1184R,ENSG00000079308:ENST00000171887:exon24:c.T3589C:p.W1197R Score=397;Name=lod=55 Name=Pulmonary function,Pulmonary function (interaction) 2q35 Score=927;Name=V$AP2_Q6 NA NA NA rs2571445 0.66 0.66 0.654 0.658946 0.5905 0.621 0.6167 0.8351 0.5603 0.6 0.62 0.64 0.82 0.6196 0.82 0.82 T 0.0 B 0.0 B 0.043 N 0.000 P -1.355 N 2.52 T -0.945 T 0.000 T 0.087 -1.21 0.067 3.71 0.552 1.368 7.287 -1.21036 NA 1 0.614419 0.80118 NA 0.674 NA 10.5088144 601 10 133761285 133761285 G A exonic PPP2R2D NA unknown UNKNOWN exonic ENSG00000175470 NA nonsynonymous SNV ENSG00000175470:ENST00000455566:exon6:c.G979A:p.G327S Score=581;Name=lod=305 NA 10q26.3 NA NA NA NA rs34473884 0.16 0.16 0.146 0.184105 0.2068 0.1607 0.2392 0.0817 0.2843 0.2 0.17 0.21 0.05 0.2196 0.23 0.03 D 0.868 P 0.39 B 0.000 N 0.000 P . . 1.67 T -1.042 T 0.000 T 0.693 3.015 16.06 2.58 0.820 8.740 10.560 3.015017 3.015017 0.03 0.234173 0.10019 NA 0.203 NA 10.5060937 602 11 59224885 59224885 G C exonic OR4D6 NA nonsynonymous SNV OR4D6:NM_001004708:exon1:c.G452C:p.S151T exonic ENSG00000166884 NA nonsynonymous SNV ENSG00000166884:ENST00000300127:exon1:c.G452C:p.S151T NA NA 11q12.1 Score=806;Name=V$RREB1_01 NA NA NA rs1453542 0.21 0.21 0.192 0.177316 0.2793 0.1746 0.2305 0.0477 0.2127 0.29 0.2 0.26 0.06 0.2554 0.3 0 D 0.022 B 0.088 B 0.055 N 1.000 P 0.49 N 1.24 T -1.008 T 0.000 T 0.055 1.928 12.41 5.04 2.846 -0.059 15.506 1.928327 1.928327 0.01 0.295693 0.074739 NA 0.13 NA 10.5029404 602 3 98217178 98217178 T A exonic OR5K2 NA stopgain OR5K2:NM_001004737:exon1:c.T654A:p.Y218X exonic ENSG00000231861 NA stopgain ENSG00000231861:ENST00000427338:exon1:c.T654A:p.Y218X NA NA 3q11.2 Score=899;Name=V$EVI1_05 NA NA NA rs55639376 0.13 0.13 0.114 0.123802 0.16 0.0526 0.1412 0.1422 0.1227 0.15 0.07 0.17 0.13 0.154 0.18 1 T . . . . 0.002 N 0.000 P . . . . . . . . . 1.357 10.46 -2.78 -0.629 -2.229 9.443 1.356721 1.356721 0 0.18388 0.13527 NA 0.145 NA 10.50212 602 22 42276742 42276742 G C exonic SREBF2 NA nonsynonymous SNV SREBF2:NM_004599:exon10:c.G1784C:p.G595A exonic ENSG00000198911 NA nonsynonymous SNV ENSG00000198911:ENST00000361204:exon10:c.G1784C:p.G595A NA NA 22q13.2 Score=829;Name=V$COMP1_01 NA NA NA rs2228314 0.37 0.37 0.371 0.405751 0.2316 0.2004 0.5893 0.6165 0.3814 0.22 0.23 0.54 0.62 0.3339 0.62 0.88 T 0.0 B 0.0 B 0.058 N 1.000 P -0.55 N 2.24 T -0.968 T 0.000 T 0.023 0.249 5.347 4.95 1.094 1.148 6.559 0.249403 NA 1 0.266047 0.570813 NA 0.42 NA 10.5017864 602 19 9060541 9060541 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G26905A:p.V8969M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G26905A:p.V8969M NA NA 19p13.2 NA NA NA NA rs11882256 0.4 0.4 0.395 0.391773 0.2525 0.5933 0.4712 0.3427 0.3374 0.26 0.65 0.42 0.32 0.3219 0.65 0 D 0.001 B 0.002 B . . . . 0.69 N 2.04 T -0.963 T 0.000 T 0.036 -0.37 2.257 -5.24 -3.677 -7.589 3.185 -0.370133 NA 0.03 0.260552 0.321752 NA 0.384 NA 10.4983814 602 2 171070912 171070912 T C exonic MYO3B NA synonymous SNV MYO3B:NM_001083615:exon4:c.T345C:p.T115T,MYO3B:NM_138995:exon4:c.T345C:p.T115T exonic ENSG00000071909 NA synonymous SNV ENSG00000071909:ENST00000317935:exon4:c.T345C:p.T115T,ENSG00000071909:ENST00000334231:exon4:c.T372C:p.T124T,ENSG00000071909:ENST00000408978:exon4:c.T345C:p.T115T,ENSG00000071909:ENST00000409044:exon4:c.T345C:p.T115T,ENSG00000071909:ENST00000484338:exon4:c.T372C:p.T124T NA NA 2q31.1 Score=854;Name=V$ZID_01 Name=Pbx3,YY1_(C-20) Name=5 NA rs13385825 0.41 0.41 0.402 0.417732 0.3787 0.4494 0.33 0.447 0.4479 0.38 0.46 0.39 0.4 0.4046 0.46 . . . . . . . . 0.000 P . . . . . . . . . 0.959 8.911 -11.0 -3.781 -3.150 3.259 0.958801 NA NA 0.388022 0.409553 NA 0.261 NA 10.4953446 603 22 31998612 31998612 G A exonic SFI1 NA nonsynonymous SNV SFI1:NM_001258325:exon15:c.G1481A:p.R494Q,SFI1:NM_001258326:exon15:c.G1400A:p.R467Q,SFI1:NM_001258327:exon15:c.G1400A:p.R467Q,SFI1:NM_014775:exon16:c.G1553A:p.R518Q,SFI1:NM_001007467:exon17:c.G1646A:p.R549Q exonic ENSG00000198089 NA nonsynonymous SNV ENSG00000198089:ENST00000417682:exon6:c.G491A:p.R164Q,ENSG00000198089:ENST00000414585:exon13:c.G1187A:p.R396Q,ENSG00000198089:ENST00000443011:exon13:c.G1187A:p.R396Q,ENSG00000198089:ENST00000400289:exon15:c.G1400A:p.R467Q,ENSG00000198089:ENST00000443326:exon15:c.G1400A:p.R467Q,ENSG00000198089:ENST00000540643:exon15:c.G1481A:p.R494Q,ENSG00000198089:ENST00000432498:exon16:c.G1553A:p.R518Q,ENSG00000198089:ENST00000400288:exon17:c.G1646A:p.R549Q Score=251;Name=lod=14 NA 22q12.2 NA Name=c-Fos,p300 Name=106 NA rs2006771 0.35 0.35 0.356 0.351837 0.4612 0.12 0.3847 0.4138 0.3712 0.45 0.12 0.42 0.41 0.4146 0.46 0.65 T 0.733 P 0.117 B 0.726 N 1.000 P 0 N 1.59 T -0.952 T 0.000 T 0.231 1.425 10.7 -3.74 -0.393 -0.421 11.677 1.424511 1.424511 0.42 0.463806 0.420253 NA 0.384 NA 10.4937274 603 3 135720540 135720540 A G exonic PPP2R3A NA nonsynonymous SNV PPP2R3A:NM_002718:exon2:c.A200G:p.D67G exonic ENSG00000073711 NA nonsynonymous SNV ENSG00000073711:ENST00000264977:exon2:c.A200G:p.D67G NA NA 3q22.3 NA NA NA NA rs9814557 0.14 0.14 0.131 0.142372 0.2773 0.0268 0.1369 0.0567 0.2423 0.27 0.02 0.15 0.06 0.254 0.31 0.05 D 0.085 B 0.026 B 0.008 N 1.000 P 1.245 L 2.51 T -0.948 T 0.000 T 0.124 1.011 9.131 3.3 1.032 3.716 8.415 1.011458 NA 0.07 0.313256 0.10168 NA 0.174 NA 10.4887774 603 10 73558886 73558886 G A exonic CDH23 NA nonsynonymous SNV CDH23:NM_001171933:exon4:c.G353A:p.R118Q,CDH23:NM_001171934:exon4:c.G353A:p.R118Q,CDH23:NM_022124:exon49:c.G7073A:p.R2358Q exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000398788:exon4:c.G353A:p.R118Q,ENSG00000107736:ENST00000224721:exon50:c.G7088A:p.R2363Q Score=512;Name=lod=160 NA 10q22.1 Score=786;Name=V$ER_Q6 NA NA NA rs4747194 0.35 0.35 0.326 0.341254 0.2783 0.5298 0.3501 0.267 0.3057 0.28 0.52 0.3 0.29 0.3081 0.52 0.78 T 0.027 B 0.015 B 0.000 N 0.000 P 1.68 L 4.67 T -1.020 T 0.000 T 0.096 2.477 14.24 2.71 0.314 0.823 10.597 2.477311 2.477311 0.15 0.261393 0.263289 ID=COSM146954;OCCURENCE=1(stomach) 0.333 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039262.1|RCV000124203.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.4855404 604 18 77246406 77246406 T G exonic NFATC1 NA nonsynonymous SNV NFATC1:NM_172388:exon8:c.T835G:p.C279G,NFATC1:NM_006162:exon9:c.T2251G:p.C751G,NFATC1:NM_172387:exon9:c.T2212G:p.C738G,NFATC1:NM_172389:exon9:c.T2212G:p.C738G exonic ENSG00000131196 NA nonsynonymous SNV ENSG00000131196:ENST00000397790:exon8:c.T835G:p.C279G,ENSG00000131196:ENST00000545796:exon8:c.T835G:p.C279G,ENSG00000131196:ENST00000253506:exon9:c.T2251G:p.C751G,ENSG00000131196:ENST00000318065:exon9:c.T2212G:p.C738G,ENSG00000131196:ENST00000329101:exon9:c.T2212G:p.C738G,ENSG00000131196:ENST00000427363:exon9:c.T2251G:p.C751G Score=300;Name=lod=22 NA 18q23 NA NA NA NA rs754093 0.38 0.38 0.353 0.338858 0.4722 0.3542 0.415 0.1566 0.3783 0.47 0.38 0.47 0.15 0.4172 0.47 0 D 0.872 P 0.325 B 0.001 N 0.000 P 1.73 L 2.03 T -0.908 T 0.000 T 0.448 1.124 9.583 3.49 0.745 4.802 9.691 1.124206 NA 0.01 0.463471 0.183386 ID=COSM438403;OCCURENCE=1(breast) 0.297 NA 10.4804624 604 17 38131187 38131187 C A exonic GSDMA NA nonsynonymous SNV GSDMA:NM_178171:exon10:c.C941A:p.T314N exonic ENSG00000167914 NA nonsynonymous SNV ENSG00000167914:ENST00000301659:exon10:c.C941A:p.T314N Score=507;Name=lod=153 NA 17q21.1 NA NA NA NA rs56030650 0.42 0.42 0.396 0.382788 0.4573 0.4742 0.3847 0.3132 0.3047 0.46 0.48 0.41 0.29 0.4271 0.48 0.34 T 0.968 D 0.637 P 0.062 N 0.617 P 1.79 L 1.91 T -0.893 T 0.000 T 0.098 2.002 12.65 3.96 0.779 1.437 13.316 2.002462 2.002462 NA 0.471905 0.332454 NA 0.428 NA 10.4770284 605 8 120429024 120429024 G A exonic NOV NA nonsynonymous SNV NOV:NM_002514:exon2:c.G125A:p.R42Q exonic ENSG00000136999 NA nonsynonymous SNV ENSG00000136999:ENST00000259526:exon2:c.G125A:p.R42Q NA NA 8q24.12 NA Name=E2F6 Name=125 NA rs2279112 0.29 0.29 0.319 0.312899 0.2266 0.1538 0.1902 0.5681 0.3078 0.22 0.17 0.22 0.58 0.3636 0.58 1 T 0.0 B 0.0 B 0.778 N 1.000 P -0.55 N 0.43 T -0.996 T 0.000 T 0.049 1.708 11.67 -8.39 -1.696 -0.773 5.490 1.708383 1.708383 1 0.268281 0.523656 NA 0.261 NA 10.4748524 605 15 80263345 80263345 A C exonic BCL2A1 NA nonsynonymous SNV BCL2A1:NM_001114735:exon1:c.T117G:p.N39K,BCL2A1:NM_004049:exon1:c.T117G:p.N39K exonic ENSG00000140379 NA nonsynonymous SNV ENSG00000140379:ENST00000267953:exon1:c.T117G:p.N39K,ENSG00000140379:ENST00000335661:exon1:c.T117G:p.N39K NA NA 15q25.1 NA Name=Pol2-4H8,NFKB Name=123 NA rs1138358 0.43 0.43 0.441 0.458866 0.2624 0.5367 0.3127 0.6377 0.4427 0.26 0.55 0.37 0.63 0.3366 0.63 0.78 T 0.052 B 0.016 B 0.886 N 1.000 P 0.41 N 2.39 T -0.920 T 0.000 T 0.007 0.027 4.156 -10.2 -1.753 -3.817 1.529 0.027388 NA 0.89 0.261395 0.561053 NA 0.435 NA 10.4729384 605 6 106999822 106999822 G A exonic AIM1 NA nonsynonymous SNV AIM1:NM_001624:exon12:c.G4184A:p.C1395Y exonic ENSG00000112297 NA nonsynonymous SNV ENSG00000112297:ENST00000457437:exon6:c.G641A:p.C214Y,ENSG00000112297:ENST00000535438:exon6:c.G641A:p.C214Y,ENSG00000112297:ENST00000369066:exon12:c.G4184A:p.C1395Y Score=582;Name=lod=310 NA 6q21 Score=845;Name=V$POU6F1_01 NA NA NA rs2297970 0.18 0.18 0.172 0.199081 0.2873 0.0565 0.1988 0.121 0.3609 0.3 0.05 0.21 0.13 0.269 0.31 0.22 T 0.295 B 0.355 B 0.002 N 0.140 P 0.515 N -0.95 T -0.859 T 0.154 T 0.345 1.433 10.73 5.03 1.489 0.941 8.493 1.432797 1.432797 0.06 0.305769 0.149342 ID=COSM150149;OCCURENCE=1(stomach) 0.188 NA 10.4712644 605 1 26582091 26582091 G A exonic CEP85 NA nonsynonymous SNV CEP85:NM_022778:exon4:c.G638A:p.S213N exonic ENSG00000130695 NA nonsynonymous SNV ENSG00000130695:ENST00000451429:exon3:c.G485A:p.S162N,ENSG00000130695:ENST00000252992:exon4:c.G638A:p.S213N,ENSG00000130695:ENST00000476272:exon4:c.G638A:p.S213N NA NA 1p36.11 NA NA NA NA rs3795686 0.23 0.23 0.216 0.186302 0.3022 0.2599 0.2363 0.0575 0.1299 0.3 0.25 0.24 0.07 0.2533 0.31 1 T 0.0 B 0.001 B 0.000 D 0.995 P -0.205 N 2.78 T -0.933 T 0.000 T 0.004 -1.134 0.115 4.24 1.069 1.327 9.919 -1.133765 NA 0.69 0.307558 0.094871 NA 0.232 NA 10.4702754 605 3 14174427 14174427 A T exonic TMEM43 NA nonsynonymous SNV TMEM43:NM_024334:exon6:c.A504T:p.K168N exonic ENSG00000170876 NA nonsynonymous SNV ENSG00000170876:ENST00000306077:exon6:c.A504T:p.K168N Score=569;Name=lod=275 NA 3p25.1 Score=830;Name=V$RREB1_01 NA NA NA rs4685076 0.33 0.33 0.32 0.352636 0.2545 0.4613 0.366 0.3026 0.3998 0.26 0.41 0.35 0.34 0.3209 0.41 0.36 T 0.203 B 0.123 B 0.000 D 0.017 P 0.805 L 1.3 T -0.896 T 0.000 T 0.122 2.835 15.44 1.56 0.298 0.905 7.874 2.834829 2.834829 0.23 0.287791 0.287108 NA 0.225 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000039387.3|RCV000125538.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.4701424 605 12 31256905 31256905 T C exonic DDX11 NA nonsynonymous SNV DDX11:NM_001257144:exon27:c.T2851C:p.C951R,DDX11:NM_152438:exon27:c.T2851C:p.C951R exonic ENSG00000013573 NA nonsynonymous SNV ENSG00000013573:ENST00000407793:exon27:c.T2851C:p.C951R,ENSG00000013573:ENST00000545668:exon27:c.T2851C:p.C951R NA NA 12p11.21 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),FOXA1_(C-20) Name=30 NA rs1046458 0.54 0.54 0.517 0.638379 0.4553 0.8105 0.6153 0.708 0.5716 0.36 0.73 0.52 0.61 0.4082 0.73 . . 0.0 B 0.0 B . . 1.000 P 0.345 N -0.68 T -0.962 T 0.000 T 0.104 -1.335 0.031 -2.53 -1.616 -0.876 4.767 -1.335212 NA 0 NA NA NA 0.116 NA 10.4698334 605 8 144406705 144406705 C T exonic TOP1MT NA nonsynonymous SNV TOP1MT:NM_001258447:exon6:c.G472A:p.V158I,TOP1MT:NM_052963:exon6:c.G766A:p.V256I,TOP1MT:NM_001258446:exon7:c.G472A:p.V158I exonic ENSG00000184428 NA nonsynonymous SNV ENSG00000184428:ENST00000329245:exon6:c.G766A:p.V256I,ENSG00000184428:ENST00000519139:exon6:c.G472A:p.V158I,ENSG00000184428:ENST00000519148:exon6:c.G472A:p.V158I,ENSG00000184428:ENST00000522041:exon6:c.G472A:p.V158I,ENSG00000184428:ENST00000519591:exon7:c.G472A:p.V158I,ENSG00000184428:ENST00000521193:exon7:c.G472A:p.V158I,ENSG00000184428:ENST00000523676:exon7:c.G472A:p.V158I Score=543;Name=lod=215 NA 8q24.3 NA NA NA NA rs11544484 0.27 0.27 0.292 0.275759 0.3121 0.0754 0.1873 0.5015 0.2025 0.3 0.07 0.2 0.51 0.2706 0.51 1 T 0.042 B 0.026 B 0.353 N 0.999 P -0.775 N 1.24 T -1.042 T 0.000 T 0.208 -1.661 0.012 -7.1 -1.752 1.413 9.912 -1.660811 NA 1 0.282093 0.494553 NA 0.304 NA 10.4685404 605 18 61647069 61647069 G A exonic SERPINB8 NA nonsynonymous SNV SERPINB8:NM_001031848:exon3:c.G203A:p.R68Q,SERPINB8:NM_002640:exon3:c.G203A:p.R68Q,SERPINB8:NM_198833:exon3:c.G203A:p.R68Q exonic ENSG00000166401 NA nonsynonymous SNV ENSG00000166401:ENST00000353706:exon3:c.G203A:p.R68Q,ENSG00000166401:ENST00000397985:exon3:c.G203A:p.R68Q,ENSG00000166401:ENST00000397988:exon3:c.G203A:p.R68Q,ENSG00000166401:ENST00000441827:exon3:c.G203A:p.R68Q,ENSG00000166401:ENST00000448851:exon3:c.G203A:p.R68Q NA NA 18q22.1 NA NA NA NA rs1944270 0.34 0.34 0.354 0.325879 0.2863 0.1944 0.2262 0.6445 0.1421 0.3 0.2 0.25 0.64 0.3009 0.64 1 T 0.0 B 0.001 B 0.276 N 1.000 P -0.575 N -1.77 D -1.015 T 0.000 T 0.263 -1.263 0.047 -5.63 -1.431 -2.669 10.542 -1.263202 NA 1 0.280116 0.573309 NA 0.391 NA 10.4660174 606 21 46067180 46067180 C T exonic KRTAP10-11 NA nonsynonymous SNV KRTAP10-11:NM_198692:exon1:c.C805T:p.R269C exonic ENSG00000243489 NA nonsynonymous SNV ENSG00000243489:ENST00000334670:exon1:c.C805T:p.R269C NA NA 21q22.3 Score=780;Name=V$HEN1_02 NA NA NA rs462007 0.81 0.81 0.805 0.816094 0.8062 0.6796 0.7954 0.9887 0.7485 0.81 0.67 0.82 0.98 0.7801 0.98 0.06 T 1.0 D 0.895 P . . 0.001 P 1.955 M 5.85 T -0.939 T 0.000 T 0.125 0.878 8.562 3.04 0.187 -1.248 6.258 0.877898 NA 0.03 0.782837 0.956176 NA 0.63 NA 10.4641964 606 9 15188106 15188106 T C exonic TTC39B NA nonsynonymous SNV TTC39B:NM_001168341:exon12:c.A1051G:p.I351V,TTC39B:NM_001168342:exon12:c.A763G:p.I255V,TTC39B:NM_001168340:exon13:c.A1219G:p.I407V,TTC39B:NM_001168339:exon14:c.A1252G:p.I418V,TTC39B:NM_152574:exon14:c.A1258G:p.I420V exonic ENSG00000155158 NA nonsynonymous SNV ENSG00000155158:ENST00000297615:exon12:c.A1051G:p.I351V,ENSG00000155158:ENST00000507993:exon12:c.A763G:p.I255V,ENSG00000155158:ENST00000380850:exon13:c.A1219G:p.I407V,ENSG00000155158:ENST00000355694:exon14:c.A1060G:p.I354V,ENSG00000155158:ENST00000507285:exon14:c.A763G:p.I255V,ENSG00000155158:ENST00000512701:exon14:c.A1258G:p.I420V Score=631;Name=lod=491 NA 9p22.3 NA NA Name=3 NA rs1407977 0.76 0.76 0.772 0.772564 0.5964 0.9236 0.7089 0.8548 0.7321 0.6 0.94 0.67 0.87 0.6816 0.94 0.55 T 0.002 B 0.012 B 0.000 N 0.000 P 2.24 M 0.99 T -0.987 T 0.000 T 0.081 -0.491 1.742 2.85 0.342 1.742 12.630 -0.491464 NA 0.31 0.5913 0.804812 ID=COSM455697;OCCURENCE=1(breast) 0.739 NA 10.4640334 606 6 97626374 97626374 A G exonic MMS22L NA nonsynonymous SNV MMS22L:NM_198468:exon18:c.T2624C:p.V875A exonic ENSG00000146263 NA nonsynonymous SNV ENSG00000146263:ENST00000369251:exon16:c.T2504C:p.V835A,ENSG00000146263:ENST00000275053:exon18:c.T2624C:p.V875A Score=389;Name=lod=51 NA 6q16.1 NA NA NA NA rs1737145 0.37 0.37 0.379 0.41254 0.4662 0.245 0.3746 0.4228 0.5429 0.45 0.21 0.37 0.43 0.4366 0.47 0.27 T 0.675 P 0.13 B 0.212 N 0.955 P 1.78 L 2.02 T -1.057 T 0.022 T 0.104 2.313 13.69 3.37 1.052 3.642 7.626 2.313357 2.313357 0.27 0.472339 0.428214 NA 0.406 NA 10.4581944 606 7 123197691 123197691 G C intronic NDUFA5 NA NA NA exonic ENSG00000128609 NA stopgain ENSG00000128609:ENST00000471770:exon1:c.C9G:p.Y3X NA NA 7q31.32 NA Name=Oct-2,POU2F2,NRSF,Pol2,PAX5-C20,PAX5-N19,Pol2(b),HA-E2F1,Sin3Ak-20,Pol2-4H8 Name=32 NA rs118062590 0.01 0.01 0.002 0.00419329 0.0199 NA 0.0014 NA NA 0.02 NA 0.0028 NA 0.0099 0.02 0.32 T . . . . . . 1.000 N . . . . . . . . . 3.443 17.66 -9.07 -1.498 -0.428 3.661 3.443469 3.443469 NA 0.013059 0.001712 NA NA NA 10.457141 607 11 4870284 4870284 G C exonic OR51S1 NA nonsynonymous SNV OR51S1:NM_001004758:exon1:c.C155G:p.T52S exonic ENSG00000176922 NA nonsynonymous SNV ENSG00000176922:ENST00000322101:exon1:c.C155G:p.T52S NA NA 11p15.4 NA Name=CTCF NA NA rs35918613 0.08 0.08 0.058 0.0497204 0.1481 NA 0.0937 0.0136 0.0174 0.15 NA 0.13 0.02 0.0946 0.15 0.18 T 0.521 P 0.272 B 0.008 N 1.000 P 1.495 L -0.63 T -1.024 T 0.002 T 0.074 0.364 5.974 3.21 1.390 0.091 8.453 0.363637 NA 0.05 0.135761 0.037483 NA 0.109 NA 10.4548724 607 22 41548008 41548008 A G exonic EP300 NA nonsynonymous SNV EP300:NM_001429:exon15:c.A2989G:p.I997V exonic ENSG00000100393 NA nonsynonymous SNV ENSG00000100393:ENST00000263253:exon15:c.A2989G:p.I997V NA NA 22q13.2 NA NA NA NA rs20551 0.21 0.21 0.153 0.223442 0.3032 0.0536 0.513 0.0227 0.3824 0.31 0.06 0.5 0.03 0.2959 0.5 0.32 T 0.0 B 0.0 B 0.299 N 1.000 P 0 N -1.56 D -0.944 T 0.000 T 0.018 0.581 7.139 3.62 0.432 2.165 10.289 0.581359 NA 0.29 0.280349 0.060372 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079673.2;CLNDSDB=.;CLNDSDBID=. 10.4538844 607 3 66434643 66434643 T C exonic LRIG1 NA nonsynonymous SNV LRIG1:NM_015541:exon14:c.A1843G:p.M615V exonic ENSG00000144749 NA nonsynonymous SNV ENSG00000144749:ENST00000273261:exon14:c.A1843G:p.M615V,ENSG00000144749:ENST00000383703:exon15:c.A1915G:p.M639V Score=439;Name=lod=81 NA 3p14.1 NA NA NA NA rs2306272 0.38 0.38 0.356 0.36222 0.2922 0.7341 0.2435 0.1513 0.4202 0.3 0.73 0.29 0.17 0.3133 0.73 0.32 T 0.007 B 0.026 B 0.007 N 0.000 P -0.045 N 1.06 T -0.970 T 0.000 T 0.113 0.839 8.389 5.0 1.126 6.232 12.850 0.839336 NA 0.25 0.274186 0.144576 NA 0.362 NA 10.4536474 607 19 8987218 8987218 G T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon68:c.C41869A:p.Q13957K exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000380951:exon20:c.C1792A:p.Q598K,ENSG00000181143:ENST00000397910:exon68:c.C41869A:p.Q13957K Score=309;Name=lod=24 NA 19p13.2 Score=952;Name=V$LMO2COM_01 NA NA NA rs3764556 0.37 0.37 0.357 0.435104 0.2734 0.4286 0.2824 0.5885 0.5092 0.27 0.38 0.27 0.59 0.3399 0.59 0.09 T 0.071 B 0.277 B 0.004 N . . 2.925 M 1.68 T -0.977 T 0.000 T 0.109 0.491 6.661 1.37 0.472 1.684 8.348 0.490582 NA NA 0.272438 0.513456 NA 0.428 NA 10.4475954 608 19 56703248 56703248 G A exonic ZSCAN5B NA nonsynonymous SNV ZSCAN5B:NM_001080456:exon2:c.C559T:p.P187S exonic ENSG00000197213 NA nonsynonymous SNV ENSG00000197213:ENST00000358992:exon2:c.C559T:p.P187S,ENSG00000197213:ENST00000586855:exon3:c.C559T:p.P187S NA NA 19q13.43 NA NA NA NA rs527025 0.25 0.25 0.252 0.246006 0.2932 0.2798 0.2032 0.1936 0.2638 0.29 0.28 0.22 0.19 0.2872 0.31 0.25 T 1.0 D 0.996 D . . 1.000 P 2.595 M 3.3 T -1.028 T 0.000 T 0.046 1.762 11.85 -2.51 -0.516 -0.393 3.894 1.762444 1.762444 0.15 0.313953 0.20404 NA 0.232 NA 10.4389804 608 19 2118692 2118692 C T exonic AP3D1 NA nonsynonymous SNV AP3D1:NM_001261826:exon15:c.G1621A:p.G541R,AP3D1:NM_003938:exon15:c.G1621A:p.G541R exonic ENSG00000065000 NA nonsynonymous SNV ENSG00000065000:ENST00000350812:exon10:c.G1114A:p.G372R,ENSG00000065000:ENST00000356926:exon14:c.G1348A:p.G450R,ENSG00000065000:ENST00000345016:exon15:c.G1621A:p.G541R,ENSG00000065000:ENST00000355272:exon15:c.G1621A:p.G541R NA NA 19p13.3 NA NA NA NA rs34569645 0.07 0.07 0.064 0.0758786 0.1123 NA 0.0648 0.0734 0.1278 0.11 NA 0.08 0.08 0.1267 0.16 0.53 T 0.63 P 0.186 B 0.804 N 1.000 P 2.42 M 1.74 T -1.041 T 0.000 T 0.084 -0.247 2.81 2.61 0.421 2.416 12.673 -0.247155 NA 0.4 0.155994 0.08627 NA 0.065 NA 10.4383394 608 22 44342116 44342116 A G exonic PNPLA3 NA nonsynonymous SNV PNPLA3:NM_025225:exon9:c.A1300G:p.K434E exonic ENSG00000100344 NA nonsynonymous SNV ENSG00000100344:ENST00000216180:exon9:c.A1300G:p.K434E,ENSG00000100344:ENST00000423180:exon9:c.A1288G:p.K430E NA NA 22q13.31 NA Name=CTCF Name=138 NA rs2294918 0.77 0.77 0.746 0.78774 0.6292 0.8185 0.7882 0.8964 0.772 0.64 0.85 0.76 0.89 0.6778 0.89 0.31 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 1.36 T -0.993 T 0.000 T 0.017 -1.344 0.03 -5.47 -1.617 -2.202 1.474 -1.3437 NA 1 0.591047 0.854744 NA 0.783 NA 10.4352864 609 18 13068132 13068132 T C exonic CEP192 NA nonsynonymous SNV CEP192:NM_032142:exon23:c.T4654C:p.S1552P exonic ENSG00000101639 NA nonsynonymous SNV ENSG00000101639:ENST00000430049:exon13:c.T3229C:p.S1077P,ENSG00000101639:ENST00000510237:exon14:c.T3454C:p.S1152P,ENSG00000101639:ENST00000325971:exon21:c.T2866C:p.S956P,ENSG00000101639:ENST00000506447:exon23:c.T4654C:p.S1552P Score=410;Name=lod=62 NA 18p11.21 NA NA Name=15 NA rs578208 0.74 0.74 0.776 0.747204 0.6203 0.8105 0.6354 0.8669 0.7301 0.62 0.81 0.65 0.88 0.6623 0.88 1 T 0.0 B 0.0 B 0.000 N 0.993 P -2.215 N 1.86 T -0.962 T 0.000 T 0.098 0.532 6.879 5.37 1.415 4.296 14.643 0.531696 NA NA 0.619186 0.809805 NA 0.688 NA 10.4315474 609 11 118221350 118221350 G T exonic CD3G NA nonsynonymous SNV CD3G:NM_000073:exon4:c.G391T:p.V131F exonic ENSG00000160654 NA nonsynonymous SNV ENSG00000160654:ENST00000532917:exon4:c.G391T:p.V131F Score=414;Name=lod=64 NA 11q23.3 NA NA NA NA rs3753058 0.21 0.21 NA 0.297524 0.1789 0.5119 0.1124 0.1611 0.5143 0.14 0.45 0.11 0.1 0.2189 0.45 0.09 T 0.986 D 0.669 P 0.008 N 0.000 P 2.215 M -0.03 T -0.961 T 0.000 T 0.71 4.042 20.7 1.63 0.046 0.322 9.204 4.042038 4.042038 0.02 0.004423 0.004318 NA NA NA 10.4311104 609 13 32811607 32811607 G A exonic FRY NA nonsynonymous SNV FRY:NM_023037:exon44:c.G5902A:p.G1968S exonic ENSG00000073910 NA nonsynonymous SNV ENSG00000073910:ENST00000380250:exon44:c.G5902A:p.G1968S Score=358;Name=lod=38 NA 13q13.1 NA NA NA NA rs2806639 0.23 0.23 0.229 0.215855 0.3091 0.004 0.2392 0.3487 0.1421 0.32 0.01 0.25 0.32 0.2811 0.32 0.47 T 0.0 B 0.001 B 0.001 N 0.000 P 1.245 L 2.01 T -0.917 T 0.000 T 0.154 0.024 4.136 6.17 2.941 1.858 15.946 0.023614 NA 0.61 0.313216 0.3215 NA 0.188 NA 10.4299174 609 16 81248745 81248745 A G exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon3:c.T518C:p.L173S exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon3:c.T518C:p.L173S,ENSG00000269323:ENST00000599697:exon3:c.T518C:p.L173S Score=466;Name=lod=104 NA 16q23.2 NA NA Name=36 NA rs8060294 0.4 0.4 0.36 0.390176 0.2962 0.4345 0.3473 0.5454 0.2618 0.31 0.41 0.34 0.55 0.3318 0.55 1 T 0.0 B 0.0 B 0.026 N 0.000 P . . 2.42 T -0.928 T 0.000 T 0.337 1.529 11.07 3.79 0.438 5.197 10.266 1.52924 1.52924 0.48 0.277778 0.506653 ID=COSM1563477,COSM1563476;OCCURENCE=1(large_intestine) 0.377 NA 10.4275554 610 2 133541575 133541575 C T exonic NCKAP5 NA nonsynonymous SNV NCKAP5:NM_207363:exon14:c.G2809A:p.V937I exonic ENSG00000176771 NA nonsynonymous SNV ENSG00000176771:ENST00000317721:exon12:c.G2809A:p.V937I,ENSG00000176771:ENST00000409261:exon14:c.G2809A:p.V937I Score=425;Name=lod=71 NA 2q21.2 Score=840;Name=V$OLF1_01 NA NA NA rs12611515 0.39 0.39 0.413 0.372804 0.2952 0.497 0.3141 0.4554 0.2546 0.28 0.52 0.33 0.44 0.3256 0.52 0.25 T 0.003 B 0.003 B 0.715 U 0.000 P 0.805 L 2.82 T -0.947 T 0.000 T 0.036 -0.051 3.753 3.36 0.753 2.178 3.561 -0.051168 NA 0.05 0.288158 0.44081 ID=COSM441142;OCCURENCE=2(breast) 0.341 NA 10.4243754 610 11 6898663 6898663 G A exonic OR10A4 NA nonsynonymous SNV OR10A4:NM_207186:exon1:c.G785A:p.R262Q exonic ENSG00000170782 NA nonsynonymous SNV ENSG00000170782:ENST00000379829:exon1:c.G785A:p.R262Q Score=440;Name=lod=82 NA 11p15.4 NA NA NA NA rs10839635 0.3 0.3 0.276 0.309105 0.325 0.3988 0.2882 0.2042 0.3569 0.33 0.35 0.28 0.19 0.3007 0.35 0.53 T 0.907 P 0.627 P 0.002 N 0.973 P 0.565 N 1.21 T -0.978 T 0.000 T 0.238 1.152 9.692 4.04 2.554 0.803 7.878 1.152108 NA 0.15 0.284218 0.236256 NA 0.29 NA 10.4234154 610 20 18395988 18395988 C T exonic DZANK1 NA nonsynonymous SNV DZANK1:NM_001099407:exon11:c.G1060A:p.G354S exonic ENSG00000089091 NA nonsynonymous SNV ENSG00000089091:ENST00000377630:exon10:c.G541A:p.G181S,ENSG00000089091:ENST00000262547:exon11:c.G1060A:p.G354S,ENSG00000089091:ENST00000329494:exon12:c.G1066A:p.G356S,ENSG00000089091:ENST00000357236:exon12:c.G718A:p.G240S Score=410;Name=lod=62 NA 20p11.23 Score=784;Name=V$STAT5A_02 NA NA NA rs6035037 0.24 0.24 0.223 0.2498 0.3151 0.1696 0.2983 0.1573 0.3558 0.31 0.18 0.27 0.16 0.2892 0.31 0.11 T 0.352 B 0.056 B 0.181 N 1.000 P 0.075 N 0.76 T -1.013 T 0.000 T 0.362 2.563 14.53 3.54 0.619 3.120 8.633 2.562631 2.562631 0.1 0.306917 0.167973 ID=COSM443500,COSM443499;OCCURENCE=1(breast) 0.138 NA 10.4221164 610 10 63958112 63958112 T C exonic RTKN2 NA nonsynonymous SNV RTKN2:NM_145307:exon12:c.A1385G:p.H462R exonic ENSG00000182010 NA nonsynonymous SNV ENSG00000182010:ENST00000315289:exon8:c.A791G:p.H264R,ENSG00000182010:ENST00000373789:exon12:c.A1385G:p.H462R,ENSG00000182010:ENST00000395265:exon13:c.A1448G:p.H483R Score=419;Name=lod=67 Name=Rheumatoid arthritis 10q21.2 Score=736;Name=V$HOX13_01 NA NA NA rs3125734 0.65 0.65 0.639 0.588858 0.6362 0.8998 0.7017 0.3132 0.5123 0.64 0.91 0.67 0.34 0.6339 0.91 0.16 T 0.001 B 0.001 B 0.057 N 0.000 P 0.84 L 1.63 T -1.056 T 0.000 T 0.03 -0.528 1.595 2.33 0.379 1.674 9.116 -0.528166 NA 0.47 0.641163 0.382887 NA 0.478 NA 10.4220704 610 19 49949652 49949652 G A exonic PIH1D1 NA nonsynonymous SNV PIH1D1:NM_017916:exon9:c.C860T:p.P287L exonic ENSG00000104872 NA nonsynonymous SNV ENSG00000104872:ENST00000262265:exon9:c.C860T:p.P287L,ENSG00000104872:ENST00000596049:exon10:c.C860T:p.P287L NA NA 19q13.33 NA Name=ZNF263,CTCF NA NA rs7462 0.22 0.22 0.226 0.185703 0.3231 0.005 0.2032 0.2746 0.0982 0.32 0.01 0.22 0.3 0.2531 0.34 0.08 T 0.0 B 0.0 B 0.023 N 1.000 P 0.55 N 2.34 T -0.928 T 0.000 T 0.039 0.073 4.396 2.25 0.954 1.153 6.978 0.073136 NA 0.18 0.336628 0.252837 NA 0.239 NA 10.4205054 610 7 53103794 53103794 C T exonic POM121L12 NA nonsynonymous SNV POM121L12:NM_182595:exon1:c.C430T:p.P144S exonic ENSG00000221900 NA nonsynonymous SNV ENSG00000221900:ENST00000408890:exon1:c.C430T:p.P144S NA NA 7p12.1 NA NA NA NA rs73357087 0.17 0.17 0.118 0.14377 0.1451 0.0982 0.2133 0.2073 0.0542 0.16 0.11 0.2 0.21 0.1359 0.21 0.05 D 0.998 D 0.681 P . . 1.000 P 1.545 L -0.94 T -1.094 T 0.000 T 0.092 1.849 12.14 0.674 0.171 2.258 6.499 1.849414 1.849414 0.1 0.132041 0.191572 NA 0.21 NA 10.4202924 611 4 38799710 38799710 T C exonic TLR1 NA nonsynonymous SNV TLR1:NM_003263:exon4:c.A743G:p.N248S exonic ENSG00000174125 NA nonsynonymous SNV ENSG00000174125:ENST00000502213:exon3:c.A743G:p.N248S,ENSG00000174125:ENST00000308979:exon4:c.A743G:p.N248S NA NA 4p14 Score=824;Name=V$EVI1_04 NA NA NA rs4833095 0.53 0.53 0.576 0.574681 0.2803 0.5992 0.4726 0.8797 0.5123 0.24 0.66 0.44 0.89 0.3921 0.89 0.28 T 0.001 B 0.003 B 0.147 N 1.000 P 0.915 L 1.55 T -1.027 T 0.000 T 0.021 -0.465 1.852 -3.18 -1.061 -0.228 11.483 -0.464903 NA 0.52 0.249011 0.777122 NA 0.536 CLINSIG=other;CLNDBN=Leprosy_5;CLNREVSTAT=single;CLNACC=RCV000008866.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2750733:613223 10.4119224 611 14 94933640 94933640 A T exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_175739:exon3:c.T762A:p.H254Q,SERPINA9:NM_001042518:exon4:c.T462A:p.H154Q exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000337425:exon3:c.T762A:p.H254Q,ENSG00000170054:ENST00000380365:exon3:c.T708A:p.H236Q,ENSG00000170054:ENST00000448305:exon3:c.T468A:p.H156Q,ENSG00000170054:ENST00000546329:exon3:c.T654A:p.H218Q,ENSG00000170054:ENST00000298845:exon4:c.T462A:p.H154Q,ENSG00000170054:ENST00000424550:exon4:c.T315A:p.H105Q NA NA 14q32.13 Score=686;Name=V$P53_01 NA NA NA rs28583900 0.33 0.33 0.306 0.322484 0.3101 0.4643 0.3847 0.146 0.3834 0.32 0.48 0.35 0.16 0.3141 0.48 0.61 T 0.002 B 0.007 B 0.943 N 1.000 P -1.11 N -1.68 D -1.025 T 0.000 T 0.01 -0.576 1.41 -6.94 -1.227 -0.058 1.551 -0.575794 NA 0.67 0.300431 0.159341 NA 0.268 NA 10.4087024 611 19 33605300 33605300 A G exonic GPATCH1 NA nonsynonymous SNV GPATCH1:NM_018025:exon15:c.A2171G:p.H724R exonic ENSG00000076650 NA nonsynonymous SNV ENSG00000076650:ENST00000170564:exon15:c.A2171G:p.H724R NA NA 19q13.11 NA Name=PRDM1_(Val90),JunD NA NA rs10416265 0.53 0.53 0.543 0.592452 0.2475 0.8433 0.3386 0.7239 0.6912 0.26 0.86 0.32 0.73 0.4063 0.86 0.56 T 0.0 B 0.0 B 0.049 N 1.000 P 0.69 N 2.08 T -1.015 T 0.000 T 0.025 -0.073 3.646 -8.87 -2.702 -1.933 9.373 -0.07252 NA 0.22 0.272093 0.672492 NA 0.514 NA 10.4074404 611 19 57647236 57647236 T C exonic ZIM3 NA nonsynonymous SNV ZIM3:NM_052882:exon5:c.A469G:p.N157D exonic ENSG00000141946 NA nonsynonymous SNV ENSG00000141946:ENST00000269834:exon5:c.A469G:p.N157D NA NA 19q13.43 NA Name=MafK_(ab50322) NA NA rs7252632 0.74 0.74 0.72 0.743211 0.6203 0.9276 0.7046 0.7466 0.7025 0.61 0.94 0.72 0.71 0.6781 0.94 0.04 D 0.0 B 0.0 B . . 1.000 P -0.345 N 3.59 T -0.902 T 0.000 T 0.003 -2.097 0.006 -4.36 -5.246 -2.390 1.868 -2.097396 NA 0.6 0.627791 0.752837 ID=COSM1396954;OCCURENCE=1(large_intestine) 0.601 NA 10.4071424 611 17 79255998 79255998 G A exonic SLC38A10 NA synonymous SNV SLC38A10:NM_001037984:exon5:c.C492T:p.F164F,SLC38A10:NM_138570:exon5:c.C492T:p.F164F exonic ENSG00000157637 NA nonsynonymous SNV ENSG00000157637:ENST00000543204:exon1:c.C67T:p.H23Y Score=414;Name=lod=64 NA 17q25.3 NA NA NA NA rs10871494 0.13 0.13 0.092 0.113219 0.2207 0.003 0.1931 0.1157 0.0562 0.22 0.0017 0.2 0.11 0.1648 0.22 . . . . . . . . 0.000 P . . . . -1.091 T 0.000 T . 1.569 11.2 4.36 2.485 3.645 11.612 1.569041 1.569041 NA 0.207791 0.128688 ID=COSM437772,COSM437773;OCCURENCE=1(breast) 0.123 NA 10.406709 612 17 3628212 3628212 T C exonic GSG2 NA nonsynonymous SNV GSG2:NM_031965:exon1:c.T983C:p.I328T exonic ENSG00000177602 NA nonsynonymous SNV ENSG00000177602:ENST00000325418:exon1:c.T983C:p.I328T NA NA 17p13.2 NA NA NA NA rs220461 0.23 0.23 0.22 0.253594 0.3072 0.3006 0.1556 0.0219 0.5327 0.31 0.31 0.18 0.03 0.3046 0.32 0 D 0.001 B 0.0 B 0.857 N 1.000 P 0.345 N 3.24 T -0.891 T 0.000 T 0.006 -0.663 1.096 -8.67 -2.050 -2.294 9.806 -0.662582 NA 1 0.318953 0.070132 NA 0.268 NA 10.4025804 612 11 17408630 17408630 C T exonic KCNJ11 NA nonsynonymous SNV KCNJ11:NM_000525:exon1:c.G1009A:p.V337I,KCNJ11:NM_001166290:exon2:c.G748A:p.V250I exonic ENSG00000187486 NA nonsynonymous SNV ENSG00000187486:ENST00000339994:exon1:c.G1009A:p.V337I,ENSG00000187486:ENST00000528731:exon2:c.G748A:p.V250I NA Name=Type 2 diabetes 11p15.1 NA Name=CTCF NA NA rs5215 0.72 0.72 0.755 0.730631 0.6471 0.6617 0.7032 0.9546 0.6043 0.66 0.62 0.69 0.95 0.6448 0.95 0.1 T 0.004 B 0.009 B 0.105 N 1.000 P . . -3.36 D -0.825 T 0.000 T 0.023 1.801 11.98 -5.99 -1.420 -0.140 21.971 1.800702 1.800702 0.31 0.63918 0.913182 NA 0.754 NA 10.4022534 612 19 12502787 12502787 G A exonic ZNF799 NA nonsynonymous SNV ZNF799:NM_001080821:exon4:c.C425T:p.T142M exonic ENSG00000196466,ENSG00000268870 NA nonsynonymous SNV ENSG00000196466:ENST00000419318:exon4:c.C329T:p.T110M,ENSG00000196466:ENST00000430385:exon4:c.C425T:p.T142M,ENSG00000268870:ENST00000595562:exon4:c.C425T:p.T142M NA NA 19p13.2 NA NA NA NA rs12974755 0.08 0.08 0.061 0.0884585 0.1501 0.0585 0.0793 0.0174 0.1585 0.15 0.05 0.09 0.02 0.1286 0.15 0.01 D 0.995 D 0.741 P . . 1.000 P 1.995 M 3.22 T -1.042 T 0.000 T 0.041 1.529 11.07 -0.771 -0.311 -0.024 6.277 1.5293 1.5293 0.08 0.153372 0.04335 NA 0.043 NA 10.4012614 612 11 102495998 102495998 T G exonic MMP20 NA nonsynonymous SNV MMP20:NM_004771:exon1:c.A53C:p.K18T exonic ENSG00000137674 NA nonsynonymous SNV ENSG00000137674:ENST00000260228:exon1:c.A53C:p.K18T Score=329;Name=lod=29 NA 11q22.2 NA Name=BHLHE40 NA NA rs2245803 0.68 0.68 0.668 0.676518 0.6262 0.8016 0.6816 0.6036 0.6943 0.62 0.81 0.68 0.61 0.6623 0.81 0.61 T 0.0 B 0.0 B 0.842 N 0.859 P 0 N 2.65 T -1.012 T 0.000 T 0.226 0.362 5.964 4.12 0.999 2.004 11.56 0.361845 NA 0.58 0.644103 0.624376 NA 0.703 NA 10.4007304 612 1 66058513 66058513 A G exonic LEPR NA nonsynonymous SNV LEPR:NM_001198687:exon5:c.A668G:p.Q223R,LEPR:NM_001198688:exon5:c.A668G:p.Q223R,LEPR:NM_001198689:exon5:c.A668G:p.Q223R,LEPR:NM_001003679:exon6:c.A668G:p.Q223R,LEPR:NM_001003680:exon6:c.A668G:p.Q223R,LEPR:NM_002303:exon6:c.A668G:p.Q223R exonic ENSG00000116678 NA nonsynonymous SNV ENSG00000116678:ENST00000371058:exon4:c.A668G:p.Q223R,ENSG00000116678:ENST00000344610:exon6:c.A668G:p.Q223R,ENSG00000116678:ENST00000349533:exon6:c.A668G:p.Q223R,ENSG00000116678:ENST00000371059:exon6:c.A668G:p.Q223R,ENSG00000116678:ENST00000371060:exon6:c.A668G:p.Q223R Score=358;Name=lod=38 NA 1p31.3 NA NA NA NA rs1137101 0.59 0.59 0.57 0.584265 0.4692 0.869 0.4366 0.5923 0.5031 0.49 0.87 0.42 0.54 0.5103 0.87 0.41 T 0.828 P 0.234 B 0.112 N 0.000 P 1.32 L 0.58 T -1.102 T 0.050 T 0.208 2.271 13.55 3.66 0.513 2.850 9.228 2.271131 2.271131 0.12 0.454186 0.560826 NA 0.572 CLINSIG=non-pathogenic;CLNDBN=LEPTIN_RECEPTOR_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000009047.1;CLNDSDB=.;CLNDSDBID=. 10.3996474 612 19 49368843 49368843 T C exonic PLEKHA4 NA nonsynonymous SNV PLEKHA4:NM_001161354:exon3:c.A109G:p.I37V,PLEKHA4:NM_020904:exon3:c.A109G:p.I37V exonic ENSG00000105559 NA nonsynonymous SNV ENSG00000105559:ENST00000263265:exon3:c.A109G:p.I37V,ENSG00000105559:ENST00000355496:exon3:c.A109G:p.I37V Score=403;Name=lod=58 NA 19q13.33 NA NA NA NA rs506425 0.38 0.38 0.404 0.4377 0.3032 0.1111 0.3242 0.8661 0.4141 0.31 0.12 0.34 0.83 0.3297 0.83 1 T 0.0 B 0.0 B 0.000 N 0.998 P -1.575 N 2.78 T -0.994 T 0.000 T 0.011 0.012 4.078 3.98 1.270 3.044 10.498 0.012294 NA 1 0.30314 0.788697 NA 0.464 NA 10.3972934 612 11 6913243 6913243 T C exonic OR2D2 NA nonsynonymous SNV OR2D2:NM_003700:exon1:c.A489G:p.I163M exonic ENSG00000166368 NA nonsynonymous SNV ENSG00000166368:ENST00000299459:exon1:c.A489G:p.I163M NA NA 11p15.4 NA NA NA NA rs1965207 0.11 0.11 0.117 0.133387 0.162 0.0764 0.0937 0.1293 0.1963 0.13 0.07 0.1 0.12 0.1368 0.14 0.04 D 0.395 B 0.54 P 0.003 N 1.000 P 1.26 L 8.72 T -0.920 T 0.000 T 0.044 2.042 12.79 -10.2 -2.599 -2.769 4.355 2.04214 2.04214 0.08 0.138501 0.136983 NA NA NA 10.3960324 612 17 26694861 26694861 G A exonic VTN NA nonsynonymous SNV VTN:NM_000638:exon7:c.C1199T:p.T400M exonic ENSG00000109072,ENSG00000272099 NA nonsynonymous SNV ENSG00000109072:ENST00000555059:exon1:c.C173T:p.T58M,ENSG00000272099:ENST00000226218:exon7:c.C1199T:p.T400M NA NA 17q11.2 NA NA Name=2 NA rs704 0.58 0.58 0.539 0.555112 0.4493 0.7083 0.5389 0.6097 0.4438 0.44 0.77 0.55 0.58 0.5082 0.77 0.22 T 0.943 P 0.115 B 0.004 N 1.000 P 1.15 L 3.67 T -0.902 T 0.000 T 0.631 1.847 12.13 -8.94 -2.112 -3.133 6.426 1.846907 1.846907 0.29 0.480698 0.565819 NA 0.478 NA 10.3951354 613 8 23060256 23060256 T C exonic TNFRSF10A NA nonsynonymous SNV TNFRSF10A:NM_003844:exon3:c.A422G:p.H141R exonic ENSG00000104689 NA nonsynonymous SNV ENSG00000104689:ENST00000221132:exon3:c.A422G:p.H141R NA NA 8p21.3 NA Name=GR NA NA rs17620 0.56 0.56 0.533 0.571685 0.4553 0.9742 0.6153 0.2458 0.6861 0.46 0.98 0.57 0.23 0.5254 0.98 0.13 T 0.824 P 0.177 B 0.921 U 1.000 P 1.04 L 0.99 T -0.910 T 0.000 T 0.018 -0.282 2.65 -6.96 -4.586 -2.096 2.080 -0.282244 NA 0.46 0.459302 0.284385 NA 0.384 NA 10.3933314 613 11 57798942 57798942 A G exonic OR6Q1 NA nonsynonymous SNV OR6Q1:NM_001005186:exon1:c.A518G:p.Y173C exonic ENSG00000172381 NA nonsynonymous SNV ENSG00000172381:ENST00000302622:exon1:c.A518G:p.Y173C Score=313;Name=lod=25 NA 11q12.1 NA NA NA NA rs2513726 0.38 0.38 0.356 0.408147 0.2913 0.6825 0.2651 0.3238 0.4611 0.28 0.66 0.27 0.31 0.3518 0.66 1 T 0.0 B 0.0 B 0.001 N 0.000 P -3.245 N 9.05 T -0.993 T 0.000 T 0.076 -0.527 1.599 5.04 1.136 5.148 9.753 -0.527015 NA 1 0.298534 0.336665 NA 0.326 NA 10.3916994 613 10 115393929 115393929 G A exonic NRAP NA nonsynonymous SNV NRAP:NM_006175:exon14:c.C1364T:p.S455L,NRAP:NM_001261463:exon15:c.C1469T:p.S490L,NRAP:NM_198060:exon15:c.C1469T:p.S490L exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000360478:exon14:c.C1364T:p.S455L,ENSG00000197893:ENST00000369360:exon14:c.C1364T:p.S455L,ENSG00000197893:ENST00000359988:exon15:c.C1469T:p.S490L,ENSG00000197893:ENST00000369358:exon15:c.C1469T:p.S490L Score=456;Name=lod=95 NA 10q25.3 NA NA NA NA rs3189030 0.3 0.3 0.308 0.290735 0.328 0.4266 0.2781 0.1203 0.3517 0.3 0.44 0.31 0.12 0.3061 0.44 0.29 T 0.083 B 0.018 B 0.016 N 0.167 P 2.005 M 2.48 T -0.935 T 0.000 T 0.199 1.068 9.361 3.28 0.542 2.948 10.661 1.068063 NA 0.16 0.308372 0.139355 ID=COSM1179743;OCCURENCE=1(prostate) 0.239 NA 10.3908614 613 17 27959903 27959903 G A exonic SSH2 NA nonsynonymous SNV SSH2:NM_033389:exon15:c.C2228T:p.S743L exonic ENSG00000141298 NA nonsynonymous SNV ENSG00000141298:ENST00000269033:exon15:c.C2228T:p.S743L,ENSG00000141298:ENST00000540801:exon16:c.C2309T:p.S770L Score=595;Name=lod=349 NA 17q11.2 NA NA NA NA rs2289629 0.2 0.2 0.168 0.184704 0.335 0.0764 0.2983 0.1044 0.1697 0.32 0.06 0.3 0.1 0.2782 0.33 0.1 T 0.141 B 0.028 B 0.053 N 0.000 P 2.045 M 0.56 T -1.067 T 0.000 T 0.163 2.653 14.83 4.1 0.907 3.615 17.957 2.653224 2.653224 0.02 0.332674 0.154335 NA 0.123 NA 10.3874594 613 2 182543455 182543455 T C exonic NEUROD1 NA nonsynonymous SNV NEUROD1:NM_002500:exon2:c.A133G:p.T45A exonic ENSG00000162992 NA nonsynonymous SNV ENSG00000162992:ENST00000295108:exon2:c.A133G:p.T45A Score=376;Name=lod=45 NA 2q31.3 NA Name=ZNF263,NRSF NA NA rs1801262 0.73 0.73 0.732 0.770767 0.6123 0.9196 0.745 0.7307 0.8528 0.6 0.92 0.7 0.74 0.7027 0.92 0.76 T 0.0 B 0.0 B 0.289 N 0.000 P 0.345 N -3.57 D -0.953 T 0.000 T 0.036 0.082 4.444 4.43 0.741 1.164 9.282 0.082289 NA 0.78 0.631512 0.743305 ID=COSM1179689;OCCURENCE=1(prostate) 0.739 NA 10.3868214 613 2 152352843 152352843 C G exonic NEB NA nonsynonymous SNV NEB:NM_004543:exon140:c.G18829C:p.A6277P,NEB:NM_001164507:exon173:c.G24433C:p.A8145P,NEB:NM_001164508:exon173:c.G24433C:p.A8145P,NEB:NM_001271208:exon174:c.G24538C:p.A8180P exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000509223:exon5:c.G265C:p.A89P,ENSG00000183091:ENST00000397336:exon6:c.G358C:p.A120P,ENSG00000183091:ENST00000424585:exon9:c.G742C:p.A248P,ENSG00000183091:ENST00000413693:exon67:c.G8065C:p.A2689P,ENSG00000183091:ENST00000172853:exon140:c.G18865C:p.A6289P,ENSG00000183091:ENST00000409198:exon141:c.G18865C:p.A6289P,ENSG00000183091:ENST00000603639:exon171:c.G24433C:p.A8145P,ENSG00000183091:ENST00000604864:exon171:c.G24433C:p.A8145P,ENSG00000183091:ENST00000397345:exon173:c.G24433C:p.A8145P,ENSG00000183091:ENST00000427231:exon173:c.G24433C:p.A8145P Score=641;Name=lod=537 NA 2q23.3 Score=913;Name=V$MEIS1_01 NA NA NA rs7575451 0.68 0.68 0.671 0.627796 0.6541 0.751 0.6945 0.5862 0.4826 0.64 0.78 0.69 0.63 0.6499 0.78 0.85 T 0.0 B 0.001 B . . 0.000 P -0.78 N 4.1 T -1.033 T 0.000 T 0.698 0.967 8.946 4.11 0.607 3.099 10.384 0.967001 NA 0.31 0.644182 0.594762 NA 0.623 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081126.3;CLNDSDB=.;CLNDSDBID=. 10.3851514 614 22 30953295 30953295 C T exonic GAL3ST1 NA nonsynonymous SNV GAL3ST1:NM_004861:exon3:c.G85A:p.V29M exonic ENSG00000128242 NA nonsynonymous SNV ENSG00000128242:ENST00000453479:exon1:c.G85A:p.V29M,ENSG00000128242:ENST00000338911:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000402321:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000402369:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000406955:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000416358:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000427899:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000431313:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000441967:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000443111:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000443136:exon2:c.G85A:p.V29M,ENSG00000128242:ENST00000401975:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000406361:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000411821:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000423299:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000423371:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000426220:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000437282:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000452827:exon3:c.G85A:p.V29M,ENSG00000128242:ENST00000428682:exon4:c.G85A:p.V29M,ENSG00000128242:ENST00000445645:exon4:c.G85A:p.V29M,ENSG00000128242:ENST00000447224:exon4:c.G85A:p.V29M,ENSG00000128242:ENST00000448604:exon5:c.G85A:p.V29M Score=497;Name=lod=139 NA 22q12.2 NA Name=CTCF,CTCF_(SC-5916) Name=3 NA rs2267161 0.32 0.32 0.329 0.309904 0.326 0.3502 0.2536 0.3646 0.2178 0.31 0.34 0.25 0.34 0.3065 0.37 0.24 T 0.137 B 0.106 B 0.003 N 0.000 P 0.345 N 2.18 T -0.893 T 0.000 T 0.371 2.327 13.74 1.09 0.316 1.007 7.679 2.327313 2.327313 0.07 0.317674 0.373808 NA 0.428 NA 10.3831594 614 3 45779136 45779136 A T exonic SACM1L NA nonsynonymous SNV SACM1L:NM_014016:exon15:c.A1301T:p.Y434F exonic ENSG00000211456 NA nonsynonymous SNV ENSG00000211456:ENST00000433336:exon5:c.A332T:p.Y111F,ENSG00000211456:ENST00000541314:exon14:c.A1118T:p.Y373F,ENSG00000211456:ENST00000389061:exon15:c.A1301T:p.Y434F,ENSG00000211456:ENST00000418611:exon16:c.A992T:p.Y331F Score=618;Name=lod=432 NA 3p21.31 NA NA NA NA rs1468542 0.57 0.57 0.555 0.548323 0.6849 0.3958 0.5706 0.6505 0.411 0.7 0.35 0.58 0.62 0.6017 0.7 1 T 0.001 B 0.001 B 0.000 D 0.000 P -0.48 N 2.0 T -0.985 T 0.000 T 0.296 0.428 6.322 6.06 2.322 5.805 16.613 0.42752 NA 1 0.663721 0.628461 ID=COSM149368;OCCURENCE=1(stomach) 0.507 NA 10.3830124 614 3 124646837 124646837 G A exonic MUC13 NA nonsynonymous SNV MUC13:NM_033049:exon2:c.C53T:p.A18V exonic ENSG00000173702 NA nonsynonymous SNV ENSG00000173702:ENST00000311075:exon2:c.C53T:p.A18V NA NA 3q21.2 NA Name=IRF4_(M-17),BCL11A,PAX5-N19,TCF12 Name=5 NA rs4679394 0.09 0.09 0.076 0.10623 0.1511 0.0298 0.2003 0.0159 0.1943 0.15 0.02 0.2 0.01 0.146 0.2 0.02 D 0.799 P 0.217 B 0.057 N 1.000 P 0.55 N 2.28 T -1.034 T 0.000 T 0.035 1.548 11.13 -0.446 -0.111 0.130 3.488 1.548071 1.548071 0.05 0.155233 0.035179 NA 0.109 NA 10.3810004 614 19 54657069 54657069 C T intronic CNOT3 NA NA NA exonic ENSG00000088038 NA nonsynonymous SNV ENSG00000088038:ENST00000358389:exon17:c.C1646T:p.S549L NA NA 19q13.42 NA NA Name=16 NA rs42318 0.18 0.18 0.169 0.196286 0.2853 0.1637 0.2133 0.0734 0.2924 0.28 0.14 0.2 0.08 0.2381 0.28 0 D . . . . . . 1.000 P . . . . -1.014 T 0.000 T 0.066 1.856 12.16 -4.41 -1.419 -1.469 1.421 1.856036 1.856036 0 0.263435 0.119863 NA 0.21 NA 10.3798317 614 6 130374102 130374102 C A exonic L3MBTL3 NA nonsynonymous SNV L3MBTL3:NM_001007102:exon6:c.C473A:p.T158N,L3MBTL3:NM_032438:exon7:c.C548A:p.T183N exonic ENSG00000198945 NA nonsynonymous SNV ENSG00000198945:ENST00000368139:exon5:c.C473A:p.T158N,ENSG00000198945:ENST00000526019:exon6:c.C473A:p.T158N,ENSG00000198945:ENST00000533560:exon6:c.C473A:p.T158N,ENSG00000198945:ENST00000361794:exon7:c.C548A:p.T183N,ENSG00000198945:ENST00000368136:exon7:c.C548A:p.T183N,ENSG00000198945:ENST00000528385:exon7:c.C548A:p.T183N,ENSG00000198945:ENST00000529410:exon9:c.C548A:p.T183N Score=403;Name=lod=58 NA 6q23.1 Score=764;Name=V$STAT5A_02 NA NA NA rs9388768 0.54 0.54 0.502 0.503994 0.6461 0.7599 0.6124 0.1142 0.544 0.66 0.73 0.61 0.11 0.6266 0.73 0.3 T 0.0 B 0.001 B 0.041 N 1.000 P 0 N 2.58 T -1.080 T 0.028 T 0.072 1.007 9.113 5.03 2.498 1.151 13.180 1.007105 NA 0.06 0.68093 0.211984 NA 0.428 NA 10.3797034 614 19 52497250 52497250 G A exonic ZNF615 NA nonsynonymous SNV ZNF615:NM_198480:exon6:c.C1079T:p.T360I,ZNF615:NM_001199324:exon7:c.C1112T:p.T371I exonic ENSG00000197619 NA nonsynonymous SNV ENSG00000197619:ENST00000391795:exon4:c.C1094T:p.T365I,ENSG00000197619:ENST00000376716:exon6:c.C1079T:p.T360I,ENSG00000197619:ENST00000594083:exon6:c.C1112T:p.T371I,ENSG00000197619:ENST00000602063:exon6:c.C1079T:p.T360I,ENSG00000197619:ENST00000598071:exon7:c.C1112T:p.T371I NA NA 19q13.41 NA Name=SETDB1 NA NA rs1978717 0.41 0.41 0.434 0.476038 0.3121 0.3929 0.3977 0.6074 0.6084 0.33 0.36 0.4 0.6 0.3666 0.6 1 T 0.0 B 0.001 B . . 1.000 P 0.21 N 3.15 T -0.966 T 0.000 T 0.008 -4.047 0.001 -3.42 -2.010 -0.987 9.982 -4.047464 NA 1 0.277674 0.579664 ID=COSM148712,COSM148711;OCCURENCE=1(stomach) 0.457 NA 10.3769594 614 5 147480080 147480080 G A exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon13:c.G1156A:p.D386N,SPINK5:NM_001127699:exon13:c.G1156A:p.D386N,SPINK5:NM_006846:exon13:c.G1156A:p.D386N exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon13:c.G1156A:p.D386N,ENSG00000133710:ENST00000359874:exon13:c.G1156A:p.D386N,ENSG00000133710:ENST00000398454:exon13:c.G1156A:p.D386N,ENSG00000133710:ENST00000508733:exon13:c.G1099A:p.D367N NA NA 5q32 NA NA NA NA rs2303064 0.3 0.3 0.33 0.348243 0.1213 0.4246 0.1614 0.559 0.3507 0.13 0.45 0.16 0.5 0.2119 0.5 0.3 T 0.734 P 0.258 B 0.031 N 1.000 P 1.9 L 3.58 T -0.967 T 0.000 T 0.045 1.477 10.88 3.82 1.349 1.896 9.194 1.47658 1.47658 0.01 0.12506 0.458482 NA 0.268 NA 10.3750734 615 15 99666979 99666979 G A exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA nonsynonymous SNV ENSG00000182253:ENST00000560674:exon3:c.G130A:p.V44I,ENSG00000182253:ENST00000328642:exon4:c.G985A:p.V329I,ENSG00000182253:ENST00000336292:exon4:c.G985A:p.V329I NA NA 15q26.3 NA NA Name=2 NA rs5030691 0.07 0.07 0.088 0.0752796 0.0805 0.0466 0.0432 0.1021 0.0859 0.09 0.05 0.03 0.1 0.1342 0.1 1 T 0.0 B 0.0 B . . 1.000 P . . -1.44 T -0.996 T 0.007 T 0.089 -0.683 1.026 -7.36 -2.152 -1.740 11.008 -0.683404 NA 1 0.079435 0.08245 NA 0.029 NA 10.3725317 615 15 45661678 45661678 T A exonic GATM NA nonsynonymous SNV GATM:NM_001482:exon3:c.A330T:p.Q110H exonic ENSG00000171766 NA nonsynonymous SNV ENSG00000171766:ENST00000558163:exon2:c.A111T:p.Q37H,ENSG00000171766:ENST00000396659:exon3:c.A330T:p.Q110H,ENSG00000171766:ENST00000558336:exon3:c.A330T:p.Q110H Score=581;Name=lod=306 NA 15q21.1 NA NA NA NA rs1288775 0.6 0.6 0.621 0.61861 0.2783 0.8185 0.5692 0.8676 0.4611 0.28 0.85 0.51 0.86 0.4185 0.86 0.55 T 0.0 B 0.0 B 0.116 N 1.000 P -1.1 N 1.06 T -1.011 T 0.000 T 0.251 1.279 10.18 3.5 0.129 1.947 4.948 1.278669 1.278669 0.55 0.267217 0.762966 NA 0.464 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117125.2|RCV000125215.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.3693164 615 16 57016092 57016092 G A exonic CETP NA nonsynonymous SNV CETP:NM_000078:exon14:c.G1264A:p.V422I exonic ENSG00000087237 NA nonsynonymous SNV ENSG00000087237:ENST00000379780:exon13:c.G1084A:p.V362I,ENSG00000087237:ENST00000200676:exon14:c.G1264A:p.V422I,ENSG00000087237:ENST00000566128:exon14:c.G1069A:p.V357I NA NA 16q13 NA Name=ZNF263 NA NA rs5882 0.55 0.55 0.532 0.533946 0.669 0.5635 0.5994 0.3623 0.5501 0.67 0.52 0.62 0.36 0.6165 0.68 0.37 T 0.001 B 0.003 B 0.776 N 1.000 P -0.55 N 3.35 T -0.987 T 0.000 T 0.043 -1.024 0.227 -6.67 -1.419 -2.553 8.142 -1.024059 NA 1 0.681395 0.414695 NA 0.63 CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10;CLNREVSTAT=single;CLNACC=RCV000019077.1;CLNDSDB=.;CLNDSDBID=. 10.3664384 616 8 6338306 6338306 C A exonic MCPH1 NA nonsynonymous SNV MCPH1:NM_024596:exon11:c.C2045A:p.T682N exonic ENSG00000147316 NA nonsynonymous SNV ENSG00000147316:ENST00000344683:exon11:c.C2045A:p.T682N NA NA 8p23.1 NA NA Name=2 NA rs12674488 0.14 0.14 0.14 0.146366 0.163 0.1806 0.1153 0.0938 0.1871 0.15 0.18 0.12 0.08 0.1522 0.18 0.13 T 0.981 D 0.873 P 0.021 N 1.000 P 1.545 L 1.6 T -1.097 T 0.000 T 0.057 2.141 13.12 0.673 -0.152 1.013 18.576 2.140912 2.140912 0.04 0.156145 0.08434 NA 0.174 NA 10.3619884 616 9 96214928 96214928 G A exonic FAM120AOS NA nonsynonymous SNV FAM120AOS:NM_198841:exon1:c.C64T:p.L22F exonic ENSG00000188938 NA nonsynonymous SNV ENSG00000188938:ENST00000375412:exon1:c.C64T:p.L22F NA NA 9q22.31 NA Name=CCNT2 NA NA rs1055710 0.36 0.36 0.359 0.289736 0.3509 0.4187 0.33 0.2247 0.1534 0.36 0.45 0.38 0.23 0.3201 0.45 0.25 T 0.048 B 0.015 B . . 1.000 P 0 N 0.51 T -0.953 T 0.000 T 0.023 2.262 13.52 -6.63 -1.502 -1.624 2.120 2.262325 2.262325 0.57 0.301571 0.218449 NA 0.29 NA 10.3607624 616 17 39684321 39684321 G C exonic KRT19 NA nonsynonymous SNV KRT19:NM_002276:exon1:c.C179G:p.A60G exonic ENSG00000171345 NA nonsynonymous SNV ENSG00000171345:ENST00000361566:exon1:c.C179G:p.A60G,ENSG00000171345:ENST00000455635:exon1:c.C179G:p.A60G Score=387;Name=lod=50 NA 17q21.2 NA Name=ZNF263,Pol2-4H8 NA NA rs4602 0.73 0.73 0.711 0.748003 0.6471 0.9187 0.7896 0.6445 0.7863 0.63 0.93 0.74 0.64 0.6944 0.93 0.58 T 0.0 B 0.0 B 0.103 N 1.000 P -1.79 N -1.07 T -0.958 T 0.000 T 0.276 -0.265 2.73 4.39 1.213 0.256 14.859 -0.264716 NA 1 0.63279 0.630213 NA 0.58 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056945.1;CLNDSDB=.;CLNDSDBID=. 10.3590434 616 6 32188640 32188640 T C exonic NOTCH4 NA nonsynonymous SNV NOTCH4:NM_004557:exon5:c.A815G:p.D272G exonic ENSG00000204301 NA nonsynonymous SNV ENSG00000204301:ENST00000375023:exon5:c.A815G:p.D272G Score=428;Name=lod=73 NA 6p21.32 NA NA NA NA rs520692 0.27 0.27 0.25 0.267772 0.3519 0.1935 0.2594 0.208 0.3446 0.34 0.19 0.3 0.22 0.3058 0.34 0.35 T 0.001 B 0.02 B 0.594 N 0.000 P 0.945 L -2.85 D -0.793 T 0.356 T 0.021 0.305 5.652 3.6 0.865 2.466 6.691 0.304853 NA 0.33 0.318837 0.212665 NA NA NA 10.3567964 617 14 88938652 88938652 A G exonic PTPN21 NA nonsynonymous SNV PTPN21:NM_007039:exon15:c.T2807C:p.V936A exonic ENSG00000070778 NA nonsynonymous SNV ENSG00000070778:ENST00000328736:exon14:c.T2807C:p.V936A,ENSG00000070778:ENST00000556564:exon15:c.T2807C:p.V936A Score=566;Name=lod=266 NA 14q31.3 NA NA NA NA rs2274736 0.37 0.37 0.373 0.395767 0.2962 0.38 0.2781 0.5227 0.4264 0.31 0.36 0.28 0.52 0.3431 0.52 0.3 T 0.0 B 0.0 B 0.000 N 1.000 P -1.04 N 2.65 T -0.940 T 0.000 T 0.075 1.298 10.25 5.86 1.502 3.948 15.262 1.298031 1.298031 0.42 0.341047 0.506128 NA 0.471 NA 10.3529864 617 9 116060221 116060221 C T exonic RNF183 NA nonsynonymous SNV RNF183:NM_145051:exon2:c.G244A:p.A82T exonic ENSG00000165188 NA nonsynonymous SNV ENSG00000165188:ENST00000478815:exon1:c.G244A:p.A82T,ENSG00000165188:ENST00000416588:exon2:c.G244A:p.A82T,ENSG00000165188:ENST00000441031:exon2:c.G244A:p.A82T,ENSG00000165188:ENST00000297894:exon4:c.G244A:p.A82T NA NA 9q32 NA NA NA NA rs3750533 0.37 0.37 0.386 0.402157 0.3032 0.4226 0.196 0.4478 0.5675 0.31 0.43 0.23 0.48 0.3537 0.48 0.65 T . . . . 0.202 N 1.000 P . . -3.13 D -1.023 T 0.000 T 0.007 -0.251 2.79 5.17 0.996 1.729 9.276 -0.251487 NA NA 0.325898 0.43663 NA 0.406 NA 10.3505354 617 7 20698270 20698270 A G exonic ABCB5 NA nonsynonymous SNV ABCB5:NM_001163942:exon5:c.A343G:p.K115E,ABCB5:NM_001163993:exon5:c.A343G:p.K115E,ABCB5:NM_178559:exon5:c.A343G:p.K115E,ABCB5:NM_001163941:exon14:c.A1678G:p.K560E exonic ENSG00000004846 NA nonsynonymous SNV ENSG00000004846:ENST00000258738:exon5:c.A343G:p.K115E,ENSG00000004846:ENST00000406935:exon5:c.A343G:p.K115E,ENSG00000004846:ENST00000443026:exon5:c.A343G:p.K115E,ENSG00000004846:ENST00000404938:exon14:c.A1678G:p.K560E Score=295;Name=lod=21 NA 7p21.1 NA NA NA NA rs2301641 0.34 0.34 0.362 0.363818 0.328 0.2024 0.3127 0.584 0.3057 0.33 0.2 0.31 0.52 0.3368 0.56 1 T 0.0 B 0.0 B 0.000 N 0.997 P -2.635 N -0.33 T -0.943 T 0.000 T 0.158 -0.521 1.621 4.69 1.511 6.508 12.502 -0.521441 NA 1 0.318837 0.55833 NA 0.362 NA 10.3496964 617 10 128192985 128192985 C T exonic C10orf90 NA nonsynonymous SNV C10orf90:NM_001004298:exon3:c.G784A:p.D262N exonic ENSG00000154493 NA nonsynonymous SNV ENSG00000154493:ENST00000284694:exon3:c.G784A:p.D262N,ENSG00000154493:ENST00000356858:exon3:c.G643A:p.D215N,ENSG00000154493:ENST00000392694:exon3:c.G643A:p.D215N,ENSG00000154493:ENST00000432642:exon3:c.G784A:p.D262N,ENSG00000154493:ENST00000454341:exon3:c.G784A:p.D262N,ENSG00000154493:ENST00000544758:exon4:c.G1075A:p.D359N NA NA 10q26.2 Score=778;Name=V$HEN1_02 Name=Rad21,CTCF Name=130 NA rs11245007 0.45 0.45 0.464 0.500599 0.3082 0.5099 0.4121 0.6876 0.499 0.3 0.48 0.39 0.67 0.3738 0.67 1 T 0.0 B 0.0 B 0.177 N 1.000 P -1.735 N 2.83 T -0.982 T 0.000 T 0.023 -0.372 2.249 1.59 -0.113 1.599 5.221 -0.371988 NA 1 0.30186 0.594644 NA 0.413 NA 10.3494734 617 6 32006886 32006886 G A exonic CYP21A2 NA nonsynonymous SNV CYP21A2:NM_001128590:exon2:c.G218A:p.R73K,CYP21A2:NM_000500:exon3:c.G308A:p.R103K exonic ENSG00000231852 NA nonsynonymous SNV ENSG00000231852:ENST00000435122:exon2:c.G218A:p.R73K,ENSG00000231852:ENST00000418967:exon3:c.G308A:p.R103K,ENSG00000231852:ENST00000471671:exon3:c.G308A:p.R103K,ENSG00000231852:ENST00000478281:exon3:c.G341A:p.R114K NA NA 6p21.33 NA NA NA NA rs6474 0.25 0.25 0.205 0.214856 0.339 0.2173 0.3718 0.0227 0.2331 0.34 0.24 0.4 0.03 0.3341 0.4 0.83 T 0.0 B 0.002 B 0.402 N 1.000 P . . -0.27 T -1.072 T 0.052 T 0.107 -0.576 1.41 -4.44 -1.185 -1.034 0.523 -0.575885 NA 0.96 0.314535 0.069287 ID=COSM1319109;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) 0.283 CLINSIG=non-pathogenic;CLNDBN=21-hydroxylase_deficiency;CLNREVSTAT=single;CLNACC=RCV000055817.1;CLNDSDB=GeneReviews:MedGen:OMIM;CLNDSDBID=NBK1171:C0852654:201910 10.3456984 617 5 32400266 32400266 A G exonic ZFR NA nonsynonymous SNV ZFR:NM_016107:exon9:c.T1559C:p.I520T exonic ENSG00000056097 NA nonsynonymous SNV ENSG00000056097:ENST00000265069:exon9:c.T1559C:p.I520T Score=403;Name=lod=58 NA 5p13.3 NA NA NA NA rs1051489 0.26 0.26 0.276 0.232827 0.337 0.2698 0.2522 0.0779 0.2832 0.32 0.29 0.31 0.1 0.3087 0.34 0.57 T 0.0 B 0.0 B 0.047 N 1.000 P -0.345 N 3.58 T -0.851 T 0.000 T 0.01 1.351 10.44 6.16 2.367 3.036 12.626 1.351153 1.351153 0.49 0.342209 0.11507 NA 0.167 NA 10.3454244 618 22 42341308 42341308 A G exonic CENPM NA synonymous SNV CENPM:NM_001002876:exon4:c.T231C:p.S77S,CENPM:NM_024053:exon4:c.T231C:p.S77S exonic ENSG00000100162 NA nonsynonymous SNV ENSG00000100162:ENST00000402420:exon3:c.T214C:p.S72P Score=304;Name=lod=23 NA 22q13.2 NA NA NA NA rs7293091 0.26 0.26 0.252 0.295927 0.2008 0.123 0.4496 0.3971 0.3262 0.2 0.13 0.42 0.4 0.2556 0.42 0.01 D . . . . 0.000 D 0.000 P . . . . -0.954 T 0.000 T . 2.715 15.04 1.19 0.148 0.950 9.887 2.714778 2.714778 0 0.19907 0.393781 NA 0.312 NA 10.34453 618 9 78936492 78936492 A G exonic PCSK5 NA nonsynonymous SNV PCSK5:NM_001190482:exon30:c.A3958G:p.K1320E exonic ENSG00000099139 NA nonsynonymous SNV ENSG00000099139:ENST00000424854:exon24:c.A3058G:p.K1020E,ENSG00000099139:ENST00000545128:exon30:c.A3958G:p.K1320E Score=340;Name=lod=32 NA 9q21.13 Score=837;Name=V$MYCMAX_03 NA NA NA rs1110223 0.31 0.31 0.325 0.31889 0.341 0.1369 0.2378 0.4592 0.3517 0.34 0.13 0.27 0.48 0.3191 0.48 1 T . . . . 0.020 N 0.000 P -0.51 N 1.64 T -0.942 T 0.000 T 0.024 -0.564 1.456 4.78 0.753 2.286 9.362 -0.563675 NA 1 0.329985 0.44121 NA 0.268 NA 10.3432484 618 14 88862529 88862529 G A exonic SPATA7 NA nonsynonymous SNV SPATA7:NM_001040428:exon3:c.G124A:p.V42M,SPATA7:NM_018418:exon4:c.G220A:p.V74M exonic;splicing ENSG00000042317;ENSG00000042317 ENST00000557248:exon4:c.219+1G>A nonsynonymous SNV ENSG00000042317:ENST00000555401:exon2:c.G49A:p.V17M,ENSG00000042317:ENST00000356583:exon3:c.G124A:p.V42M,ENSG00000042317:ENST00000553885:exon3:c.G124A:p.V42M,ENSG00000042317:ENST00000553908:exon3:c.G124A:p.V42M,ENSG00000042317:ENST00000556870:exon3:c.G124A:p.V42M,ENSG00000042317:ENST00000045347:exon4:c.G220A:p.V74M,ENSG00000042317:ENST00000393545:exon4:c.G220A:p.V74M,ENSG00000042317:ENST00000555515:exon4:c.G220A:p.V74M,ENSG00000042317:ENST00000555534:exon4:c.G220A:p.V74M,ENSG00000042317:ENST00000556553:exon4:c.G124A:p.V42M Score=284;Name=lod=19 NA 14q31.3 Score=791;Name=V$STAT3_01 NA NA NA rs3179969 0.38 0.38 0.407 0.407548 0.3002 0.3621 0.281 0.5749 0.4284 0.31 0.33 0.29 0.58 0.3473 0.58 1 T 0.001 B 0.002 B 0.355 N 1.000 P -0.745 N 2.34 T -0.917 T 0.000 T 0.266 1.218 9.944 2.45 -0.020 1.184 3.822 1.218398 NA 0.42 0.34287 0.543804 NA 0.486 NA 10.3429634 618 17 39535859 39535859 A G exonic KRT34 NA nonsynonymous SNV KRT34:NM_021013:exon4:c.T839C:p.I280T exonic ENSG00000131737 NA nonsynonymous SNV ENSG00000131737:ENST00000394001:exon4:c.T839C:p.I280T Score=535;Name=lod=200 NA 17q21.2 Score=772;Name=V$STAT5A_02 NA NA NA rs2239710 0.72 0.72 0.731 0.744609 0.6451 0.5873 0.6744 0.9682 0.7566 0.66 0.6 0.7 0.95 0.6983 0.95 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.1 N . . -0.978 T 0.000 T 0.046 -1.679 0.012 3.56 1.064 2.515 7.274 -1.67948 NA 0.4 0.651047 0.912392 ID=COSM1383139;OCCURENCE=1(large_intestine) 0.826 NA 10.3388864 618 9 100995721 100995721 A G exonic TBC1D2 NA nonsynonymous SNV TBC1D2:NM_001267571:exon4:c.T758C:p.L253S,TBC1D2:NM_018421:exon4:c.T758C:p.L253S exonic ENSG00000095383 NA nonsynonymous SNV ENSG00000095383:ENST00000342112:exon3:c.T104C:p.L35S,ENSG00000095383:ENST00000375064:exon4:c.T758C:p.L253S,ENSG00000095383:ENST00000375066:exon4:c.T758C:p.L253S NA NA 9q22.33 Score=809;Name=V$HNF4_01 NA NA NA rs879369 0.4 0.4 0.436 0.41234 0.339 0.1756 0.3372 0.8011 0.2597 0.36 0.17 0.36 0.78 0.3402 0.78 0.47 T 0.004 B 0.002 B 0.135 N 1.000 P 1.085 L 3.15 T -0.984 T 0.000 T 0.021 -2.119 0.006 -5.96 -2.065 -1.964 15.990 -2.118793 NA 0.27 0.317442 0.735361 NA 0.478 NA 10.3366914 618 7 100608884 100608884 G A intergenic ACHE,MUC12 dist=115343;dist=4020 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000422757:exon6:c.G733A:p.A245T,ENSG00000169894:ENST00000319509:exon7:c.G2263A:p.A755T NA NA 7q22.1 NA Name=HMGN3,GABP,E2F6_(H-50),ETS1,E2F6,Rad21,CTCF,Sin3Ak-20,HDAC2_(SC-6296),ZBTB7A_(SC-34508),c-Myc,USF-1 Name=5 NA rs73163797 NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.4981 0.011 0.76 T 0.279 B 0.015 B . . 1.000 N -0.145 N 0.99 T -1.014 T 0.030 T 0.037 -0.858 0.53 -4.34 -1.380 -2.604 3.284 -0.858257 NA 0.59 NA NA ID=COSM86682,COSM1547618;OCCURENCE=1(ovary),1(lung) 0.007 NA 10.3352334 619 17 21319007 21319007 G A exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.G353A:p.R118Q,KCNJ12:NM_021012:exon3:c.G353A:p.R118Q exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G353A:p.R118Q,ENSG00000184185:ENST00000583088:exon3:c.G353A:p.R118Q NA NA 17p11.2 Score=858;Name=V$AP4_01 NA NA NA rs1657740 NA NA NA 0.498203 0.5 0.5 0.5 0.4939 0.499 NA NA NA NA 0.4994 NA 0.58 T 0.216 B 0.108 B 0.309 N 1.000 N -0.345 N -3.25 D -0.463 T 0.428 T 0.092 0.334 5.809 -2.04 -0.020 1.199 5.726 0.333536 NA 0.61 NA NA ID=COSM1630088;OCCURENCE=1(liver) NA NA 10.3339334 619 20 9543622 9543622 C T exonic PAK7 NA nonsynonymous SNV PAK7:NM_177990:exon6:c.G1532A:p.S511N,PAK7:NM_020341:exon7:c.G1532A:p.S511N exonic ENSG00000101349 NA nonsynonymous SNV ENSG00000101349:ENST00000353224:exon6:c.G1532A:p.S511N,ENSG00000101349:ENST00000378423:exon7:c.G1532A:p.S511N,ENSG00000101349:ENST00000378429:exon7:c.G1532A:p.S511N Score=529;Name=lod=189 NA 20p12.2 NA NA NA NA rs2297345 0.52 0.52 0.542 0.514577 0.3151 0.5427 0.3833 0.8782 0.2924 0.31 0.55 0.41 0.87 0.3759 0.87 . . 0.0 B 0.002 B 0.000 N 0.910 P 0.99 L 2.57 T -1.057 T 0.000 T 0.047 1.138 9.638 5.87 1.158 6.239 12.329 1.138248 NA 1 0.308605 0.790513 NA 0.493 NA 10.3337284 619 3 167248948 167248948 T C exonic WDR49 NA nonsynonymous SNV WDR49:NM_178824:exon9:c.A1117G:p.M373V exonic ENSG00000174776 NA nonsynonymous SNV ENSG00000174776:ENST00000476376:exon7:c.A592G:p.M198V,ENSG00000174776:ENST00000308378:exon9:c.A1117G:p.M373V,ENSG00000174776:ENST00000453925:exon9:c.A1309G:p.M437V Score=431;Name=lod=75 NA 3q26.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43 T 0.008 B 0.001 B 0.081 N 1.000 N 0.925 L 1.63 T -1.032 T 0.066 T 0.248 -0.546 1.524 3.15 0.398 0.888 7.950 -0.546232 NA 0.12 NA NA NA NA NA 10.3333334 619 4 169393005 169393005 C T exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon4:c.G157A:p.V53I exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000260184:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000505696:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000505890:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000511577:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000512371:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000514748:exon5:c.G157A:p.V53I NA NA 4q32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07 T 0.341 B 0.124 B 0.643 U 1.000 N 1.1 L 2.3 T -1.024 T 0.035 T 0.187 2.264 13.53 2.31 0.176 4.759 9.113 2.264016 2.264016 0.02 NA NA NA NA NA 10.3333334 619 6 126210903 126210903 G T exonic NCOA7 NA nonsynonymous SNV NCOA7:NM_001199621:exon8:c.G1358T:p.G453V,NCOA7:NM_001122842:exon9:c.G1670T:p.G557V,NCOA7:NM_181782:exon9:c.G1703T:p.G568V,NCOA7:NM_001199619:exon10:c.G1703T:p.G568V,NCOA7:NM_001199620:exon11:c.G1703T:p.G568V exonic ENSG00000111912 NA nonsynonymous SNV ENSG00000111912:ENST00000413085:exon3:c.G1097T:p.G366V,ENSG00000111912:ENST00000229634:exon8:c.G1358T:p.G453V,ENSG00000111912:ENST00000392477:exon9:c.G1703T:p.G568V,ENSG00000111912:ENST00000368357:exon10:c.G1703T:p.G568V NA NA 6q22.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23 T 0.1 B 0.054 B 0.283 N 1.000 N 0.805 L 1.46 T -1.028 T 0.018 T 0.428 -0.697 0.983 2.66 1.434 0.677 4.318 -0.696532 NA 0 NA NA NA NA NA 10.3333334 619 7 48545976 48545976 A G exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon49:c.A13336G:p.K4446E exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000411975:exon6:c.A655G:p.K219E,ENSG00000179869:ENST00000544596:exon6:c.A526G:p.K176E,ENSG00000179869:ENST00000435803:exon49:c.A13336G:p.K4446E Score=436;Name=lod=79 NA 7p12.3 NA NA NA NA rs6583448 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.5 N -2.24 D -0.939 T 0.000 T 0.272 -1.009 0.247 5.04 1.122 4.263 11.109 -1.00949 NA 1 NA NA NA 1 NA 10.3333334 619 8 30706055 30706055 G C exonic TEX15 NA nonsynonymous SNV TEX15:NM_031271:exon1:c.C479G:p.S160C exonic ENSG00000133863 NA nonsynonymous SNV ENSG00000133863:ENST00000256246:exon1:c.C479G:p.S160C NA NA 8p12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.004 B 0.006 B 0.082 N 1.000 N -0.11 N 2.82 T -1.004 T 0.010 T 0.1 1.374 10.52 -3.57 -0.583 -0.485 0.367 1.374262 1.374262 0.18 NA NA NA NA NA 10.3333334 619 1 235602095 235602095 G C exonic TBCE NA nonsynonymous SNV TBCE:NM_001079515:exon13:c.G1128C:p.E376D,TBCE:NM_003193:exon13:c.G1128C:p.E376D exonic ENSG00000116957 NA nonsynonymous SNV ENSG00000116957:ENST00000366601:exon13:c.G1128C:p.E376D,ENSG00000116957:ENST00000406207:exon13:c.G1128C:p.E376D,ENSG00000116957:ENST00000543662:exon14:c.G1281C:p.E427D Score=389;Name=lod=51 NA 1q42.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 NA 0.62 T 0.001 B 0.003 B 0.024 N 0.720 N 1.24 L 1.93 T -1.028 T 0.040 T 0.16 0.322 5.748 2.56 0.906 -0.018 7.561 0.322375 NA 0.47 NA NA NA NA NA 10.3333252 619 8 145112442 145112442 G A exonic OPLAH NA nonsynonymous SNV OPLAH:NM_017570:exon10:c.C1331T:p.P444L exonic ENSG00000178814 NA nonsynonymous SNV ENSG00000178814:ENST00000426825:exon10:c.C1331T:p.P444L NA NA 8q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000039 NA 0.27 T 0.009 B 0.007 B 0.101 N 0.980 N . . . . -0.900 T 0.106 T 0.245 2.496 14.3 3.2 2.025 -0.012 12.217 2.495536 2.495536 0.28 NA NA NA NA NA 10.3332944 619 15 56385886 56385886 T C exonic RFX7 NA nonsynonymous SNV RFX7:NM_022841:exon9:c.A4040G:p.N1347S exonic ENSG00000181827 NA nonsynonymous SNV ENSG00000181827:ENST00000559847:exon7:c.A3749G:p.N1250S,ENSG00000181827:ENST00000317318:exon9:c.A4040G:p.N1347S,ENSG00000181827:ENST00000422057:exon9:c.A3749G:p.N1250S,ENSG00000181827:ENST00000423270:exon9:c.A4040G:p.N1347S,ENSG00000181827:ENST00000559447:exon9:c.A3749G:p.N1250S Score=696;Name=lod=901 NA 15q21.3 NA NA NA NA rs375177046 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.00009958 0.0003 0.75 T 0.0 B 0.0 B 0.031 N 0.507 N -0.55 N 0.77 T -1.018 T 0.039 T 0.044 -1.133 0.115 -8.18 -1.633 -0.341 16.183 -1.132757 NA 0.82 0 0.000262 NA NA NA 10.3332338 619 1 175049305 175049305 C A exonic TNN NA nonsynonymous SNV TNN:NM_022093:exon4:c.C791A:p.T264N exonic ENSG00000120332 NA nonsynonymous SNV ENSG00000120332:ENST00000239462:exon4:c.C791A:p.T264N NA NA 1q25.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0.09 T 0.04 B 0.063 B 0.306 N 1.000 N 0.6 N 3.97 T -0.954 T 0.011 T 0.044 2.004 12.66 3.7 0.704 1.392 12.292 2.004075 2.004075 0.03 NA NA NA NA NA 10.3332334 619 19 11486643 11486643 C G exonic SWSAP1 NA nonsynonymous SNV SWSAP1:NM_175871:exon2:c.C641G:p.A214G exonic ENSG00000173928 NA nonsynonymous SNV ENSG00000173928:ENST00000312423:exon2:c.C641G:p.A214G NA NA 19p13.2 NA Name=Pol2 NA NA rs150033461 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA 0.12 T 0.164 B 0.027 B 0.527 N 1.000 N 0.895 L 0.86 T -1.034 T 0.076 T 0.062 2.15 13.15 2.86 1.051 0.002 3.343 2.150013 2.150013 0.05 NA NA NA NA NA 10.3331334 619 10 126715565 126715565 C T exonic CTBP2 NA nonsynonymous SNV CTBP2:NM_022802:exon1:c.G764A:p.R255H exonic ENSG00000175029 NA nonsynonymous SNV ENSG00000175029:ENST00000309035:exon1:c.G764A:p.R255H NA NA 10q26.13 NA NA NA NA rs143281706 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.00009146 0.0001 0 D 0.957 D 0.312 B 0.491 N 1.000 N . . -1.7 D -0.635 T 0.336 T 0.219 1.344 10.42 1.45 0.204 0.040 2.657 1.343945 1.343945 0 0.000116 0 NA NA NA 10.3331259 619 20 744428 744428 G A exonic SLC52A3 NA nonsynonymous SNV SLC52A3:NM_033409:exon3:c.C787T:p.H263Y exonic ENSG00000101276 NA nonsynonymous SNV ENSG00000101276:ENST00000217254:exon3:c.C787T:p.H263Y,ENSG00000101276:ENST00000381944:exon3:c.C787T:p.H263Y Score=333;Name=lod=30 NA 20p13 Score=847;Name=V$ER_Q6 NA NA NA rs150159842 NA NA NA 0.000998403 NA NA 0.0072 NA NA NA NA NA NA 0.0002 0.0002 0.05 D 0.003 B 0.003 B 0.875 N 1.000 N 1.39 L -0.59 T -0.884 T 0.211 T 0.038 1.788 11.94 -0.151 0.077 0.503 4.446 1.788492 1.788492 0.04 0.000116 0.000227 NA NA NA 10.3330174 619 22 50298100 50298100 G C exonic ALG12 NA nonsynonymous SNV ALG12:NM_024105:exon8:c.C1047G:p.I349M exonic ENSG00000182858 NA nonsynonymous SNV ENSG00000182858:ENST00000330817:exon8:c.C1047G:p.I349M NA NA 22q13.33 NA NA NA NA rs182006999 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0003 0.0001 0.12 T 0.26 B 0.207 B 0.400 N 1.000 N 1.33 L -0.07 T -1.077 T 0.061 T 0.235 -0.482 1.783 -9.54 -4.196 -4.606 1.528 -0.481512 NA 0.04 0.000116 0 NA NA NA 10.3329174 619 9 125673569 125673569 C G exonic ZBTB6 NA nonsynonymous SNV ZBTB6:NM_006626:exon2:c.G783C:p.E261D exonic ENSG00000186130 NA nonsynonymous SNV ENSG00000186130:ENST00000373659:exon2:c.G783C:p.E261D Score=608;Name=lod=394 NA 9q33.2 NA NA NA NA rs143894946 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0002 0.0028 0.23 T 0.048 B 0.027 B 0.000 D 0.981 D 1.645 L 2.95 T -1.040 T 0.024 T 0.716 1.612 11.35 -0.222 -0.008 0.800 10.387 1.612424 1.612424 0.07 0.000233 0 NA NA NA 10.3329004 619 10 101639648 101639648 C T exonic DNMBP NA nonsynonymous SNV DNMBP:NM_015221:exon16:c.G4468A:p.V1490I exonic ENSG00000107554 NA nonsynonymous SNV ENSG00000107554:ENST00000540316:exon8:c.G1276A:p.V426I,ENSG00000107554:ENST00000543621:exon13:c.G2206A:p.V736I,ENSG00000107554:ENST00000324109:exon16:c.G4468A:p.V1490I,ENSG00000107554:ENST00000342239:exon16:c.G4540A:p.V1514I NA NA 10q24.2 NA NA NA NA rs199968530 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0003 0.48 T 0.001 B 0.001 B 0.184 N 1.000 N 0.345 N 2.8 T -1.071 T 0.038 T 0.058 1.458 10.82 -9.7 -1.438 -5.963 5.072 1.458087 1.458087 0.68 0.000349 0 NA NA NA 10.3326844 619 19 39915896 39915896 A G exonic PLEKHG2 NA nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.A4123G:p.R1375G exonic ENSG00000090924 NA nonsynonymous SNV ENSG00000090924:ENST00000600210:exon3:c.A274G:p.R92G,ENSG00000090924:ENST00000596443:exon5:c.A310G:p.R104G,ENSG00000090924:ENST00000425673:exon17:c.A4036G:p.R1346G,ENSG00000090924:ENST00000378550:exon18:c.A1696G:p.R566G,ENSG00000090924:ENST00000409797:exon18:c.A1696G:p.R566G,ENSG00000090924:ENST00000409794:exon19:c.A4123G:p.R1375G Score=333;Name=lod=30 NA 19q13.2 Score=846;Name=V$NFKB_C Name=Pol2 NA NA rs199999525 NA NA NA 0.000798722 NA NA 0.0058 NA NA NA NA NA NA 0.0003 0.0004 . . 0.005 B 0.011 B 0.083 N 0.977 N 1.185 L -0.56 T -0.982 T 0.183 T 0.448 1.914 12.36 1.57 0.265 0.641 6.420 1.913548 1.913548 0.13 0.000356 0 NA NA NA 10.3326774 619 11 57886441 57886441 C T exonic OR9I1 NA nonsynonymous SNV OR9I1:NM_001005211:exon1:c.G476A:p.R159H exonic ENSG00000172377 NA nonsynonymous SNV ENSG00000172377:ENST00000302610:exon1:c.G476A:p.R159H NA NA 11q12.1 NA NA NA NA rs139300657 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0003 0.0028 1 T 0.429 B 0.099 B 0.000 D 1.000 N -0.915 N 9.1 T -1.099 T 0.000 T 0.147 -0.802 0.672 4.03 1.433 0.034 7.138 -0.801673 NA 0.71 0.000582 0.000227 ID=COSM415544;OCCURENCE=1(urinary_tract) NA NA 10.3324514 619 6 24843131 24843131 C T exonic FAM65B NA nonsynonymous SNV FAM65B:NM_015864:exon13:c.G1729A:p.D577N,FAM65B:NM_014722:exon14:c.G1879A:p.D627N exonic ENSG00000111913 NA nonsynonymous SNV ENSG00000111913:ENST00000378023:exon13:c.G1729A:p.D577N,ENSG00000111913:ENST00000510784:exon13:c.G1831A:p.D611N,ENSG00000111913:ENST00000538035:exon13:c.G1816A:p.D606N,ENSG00000111913:ENST00000540914:exon13:c.G1729A:p.D577N,ENSG00000111913:ENST00000259698:exon14:c.G1879A:p.D627N Score=516;Name=lod=166 NA 6p22.3 NA NA NA NA rs201962345 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0003 0.0028 0.41 T 0.069 B 0.039 B 0.035 N 0.999 D 1.24 L 1.32 T -1.087 T 0.029 T 0.036 2.801 15.33 1.96 0.607 2.841 9.142 2.801008 2.801008 0.01 0.000732 0 NA NA NA 10.3323014 619 22 17669306 17669306 T C exonic CECR1 NA nonsynonymous SNV CECR1:NM_177405:exon4:c.A281G:p.H94R,CECR1:NM_017424:exon6:c.A1004G:p.H335R exonic ENSG00000093072 NA nonsynonymous SNV ENSG00000093072:ENST00000330232:exon4:c.A281G:p.H94R,ENSG00000093072:ENST00000262607:exon6:c.A1004G:p.H335R,ENSG00000093072:ENST00000399837:exon7:c.A1004G:p.H335R,ENSG00000093072:ENST00000399839:exon7:c.A1004G:p.H335R,ENSG00000093072:ENST00000449907:exon7:c.A878G:p.H293R Score=251;Name=lod=14 NA 22q11.1 NA Name=CTCF NA NA rs2231495 0.33 0.33 0.337 0.364617 0.3211 0.2262 0.3156 0.5696 0.3098 0.33 0.21 0.27 0.52 0.3473 0.55 0.34 T 0.237 B 0.015 B 0.006 N 1.000 P -0.315 N -1.54 D -0.919 T 0.000 T 0.09 -0.326 2.455 0.283 0.033 2.520 2.398 -0.325573 NA 0.32 0.333023 0.547208 NA 0.399 NA 10.3319104 619 19 10800258 10800258 C T UTR3 ILF3 NM_017620:c.*270C>T,NM_012218:c.*270C>T NA NA UTR3 ENSG00000129351 ENST00000318511:c.*270C>T,ENST00000449870:c.*270C>T,ENST00000590261:c.*270C>T NA NA Score=374;Name=lod=44 NA 19p13.2 NA NA NA NA rs201258602 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0005 NA 0 D . . . . . . 1.000 D . . . . -0.487 T 0.286 T . 2.294 13.63 4.22 1.392 0.398 10.399 2.293786 2.293786 0 NA NA NA NA NA 10.3308334 619 2 219695487 219695487 G C exonic PRKAG3 NA nonsynonymous SNV PRKAG3:NM_017431:exon3:c.C211G:p.P71A exonic ENSG00000115592 NA nonsynonymous SNV ENSG00000115592:ENST00000233944:exon3:c.C211G:p.P71A,ENSG00000115592:ENST00000392098:exon3:c.C211G:p.P71A,ENSG00000115592:ENST00000430489:exon3:c.C211G:p.P71A,ENSG00000115592:ENST00000439262:exon3:c.C136G:p.P46A,ENSG00000115592:ENST00000470307:exon3:c.C211G:p.P71A,ENSG00000115592:ENST00000529249:exon3:c.C211G:p.P71A NA NA 2q35 NA NA NA NA rs692243 0.21 0.21 0.195 0.18131 0.1471 0.4018 0.1758 0.0605 0.1564 0.16 0.4 0.15 0.1 0.1784 0.4 0.46 T 0.993 D 0.778 P 0.045 N 1.000 P 0.805 L 0.79 T -1.022 T 0.000 T 0.154 1.934 12.42 1.91 0.992 1.419 5.055 1.933641 1.933641 0.06 0.17814 0.082842 NA 0.159 NA 10.3296934 619 19 22156433 22156433 A C exonic ZNF208 NA nonsynonymous SNV ZNF208:NM_007153:exon4:c.T1403G:p.L468R exonic ENSG00000160321 NA nonsynonymous SNV ENSG00000160321:ENST00000397126:exon4:c.T1403G:p.L468R NA NA 19p12 NA NA NA NA rs147590661 0.01 0.01 0.004 0.0113818 NA NA 0.0029 0.0416 NA NA NA 0.0028 0.02 0.0035 0.036 0 D . . . . . . 1.000 N . . 0.61 T -1.035 T 0.041 T 0.288 0.778 8.108 2.26 0.824 4.532 8.092 0.778256 NA NA 0.000353 0.036201 NA 0.007 NA 10.3294804 619 19 22155884 22155884 G T exonic ZNF208 NA nonsynonymous SNV ZNF208:NM_007153:exon4:c.C1952A:p.T651N exonic ENSG00000160321 NA nonsynonymous SNV ENSG00000160321:ENST00000397126:exon4:c.C1952A:p.T651N NA NA 19p12 NA NA NA NA rs148696573 0.01 0.01 0.003 0.0115815 NA NA 0.0029 0.0424 NA NA NA 0.0028 0.02 0.0038 0.038 0.57 T 0.425 B 0.241 B . . 1.000 N . . 1.31 T -1.112 T 0.012 T 0.023 -3.003 0.001 -4.98 -4.359 -9.131 3.369 -3.003217 NA 0.95 0.000469 0.038316 NA NA NA 10.3290644 619 15 43568715 43568715 T C exonic TGM7 NA nonsynonymous SNV TGM7:NM_052955:exon13:c.A2071G:p.N691D exonic ENSG00000159495 NA nonsynonymous SNV ENSG00000159495:ENST00000452443:exon13:c.A2071G:p.N691D Score=507;Name=lod=154 NA 15q15.2 NA NA NA NA rs148274809 0.0009 0.0009 0.001 0.000599042 0.001 NA 0.0014 NA 0.001 0.0013 NA 0.0028 NA 0.0018 0.011 1 T 0.003 B 0.007 B 0.336 N 0.951 N 0.915 L -0.19 T -0.993 T 0.122 T 0.097 2.343 13.79 3.3 0.647 1.305 8.539 2.343238 2.343238 0.54 0.001861 0.000227 NA 0.007 NA 10.3286724 619 10 115350597 115350597 G A exonic NRAP NA nonsynonymous SNV NRAP:NM_006175:exon39:c.C4591T:p.R1531C,NRAP:NM_001261463:exon40:c.C4696T:p.R1566C,NRAP:NM_198060:exon40:c.C4696T:p.R1566C exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000360478:exon39:c.C4591T:p.R1531C,ENSG00000197893:ENST00000369360:exon39:c.C4615T:p.R1539C,ENSG00000197893:ENST00000359988:exon40:c.C4696T:p.R1566C,ENSG00000197893:ENST00000369358:exon40:c.C4720T:p.R1574C Score=575;Name=lod=289 NA 10q25.3 NA NA NA NA rs1885434 0.35 0.35 0.339 0.360024 0.3042 0.2996 0.4683 0.4221 0.319 0.3 0.33 0.41 0.42 0.3535 0.42 0.07 T 0.035 B 0.019 B 0.001 N 0.000 P 2.065 M 2.4 T -0.956 T 0.000 T 0.328 2.523 14.4 3.83 0.756 3.514 11.877 2.522821 2.522821 0.03 0.348372 0.407853 NA 0.297 NA 10.3272614 619 19 22155922 22155922 T A exonic ZNF208 NA nonsynonymous SNV ZNF208:NM_007153:exon4:c.A1914T:p.K638N exonic ENSG00000160321 NA nonsynonymous SNV ENSG00000160321:ENST00000397126:exon4:c.A1914T:p.K638N NA NA 19p12 NA NA NA NA rs151216289 0.01 0.01 0.008 0.0179712 NA NA 0.0043 0.0658 NA NA NA 0.0028 0.04 0.0058 0.058 0.1 T 1.0 D 0.99 D . . 1.000 N . . 0.36 T -1.026 T 0.040 T 0.02 1.457 10.82 1.42 -0.058 -2.827 2.304 1.456902 1.456902 0.01 0.00047 0.057512 NA NA NA 10.3270634 619 5 94826655 94826655 C A exonic TTC37 NA nonsynonymous SNV TTC37:NM_014639:exon37:c.G3888T:p.R1296S exonic ENSG00000198677 NA nonsynonymous SNV ENSG00000198677:ENST00000358746:exon37:c.G3888T:p.R1296S Score=415;Name=lod=65 NA 5q15 NA NA NA NA rs2303650 0.21 0.21 0.211 0.227436 0.165 0.12 0.1787 0.4024 0.2004 0.16 0.13 0.2 0.38 0.1824 0.38 0.48 T 0.704 P 0.231 B 0.000 N 0.117 P 1.04 L -1.18 T -0.994 T 0.000 T 0.174 2.837 15.45 3.23 0.398 1.310 5.884 2.836743 2.836743 0.04 0.158953 0.374035 NA 0.254 NA 10.3269804 619 12 123187313 123187313 C G exonic HCAR2 NA nonsynonymous SNV HCAR2:NM_177551:exon1:c.G518C:p.G173A exonic ENSG00000182782 NA nonsynonymous SNV ENSG00000182782:ENST00000328880:exon1:c.G518C:p.G173A NA NA 12q24.31 Score=815;Name=V$CDPCR3_01 NA NA NA rs144376493 NA NA NA 0.00119808 0.005 NA 0.0014 NA NA NA NA NA NA 0.0018 NA 0.3 T 0.008 B 0.016 B 0.324 N 1.000 N 1.15 L 1.06 T -1.047 T 0.078 T 0.109 -0.45 1.915 -9.83 -2.003 -0.136 14.223 -0.449758 NA 0.61 NA NA NA NA NA 10.3265334 619 12 123187314 123187314 C T exonic HCAR2 NA nonsynonymous SNV HCAR2:NM_177551:exon1:c.G517A:p.G173S exonic ENSG00000182782 NA nonsynonymous SNV ENSG00000182782:ENST00000328880:exon1:c.G517A:p.G173S NA NA 12q24.31 Score=815;Name=V$CDPCR3_01 NA NA NA rs141052038 NA NA NA 0.00119808 0.005 NA 0.0014 NA NA NA NA NA NA 0.0019 NA 0.26 T 0.005 B 0.004 B 0.324 N 1.000 N 0.645 N 1.07 T -1.063 T 0.047 T 0.14 -0.363 2.29 -10.5 -2.694 -1.276 1.363 -0.362698 NA 0.6 NA NA NA NA NA 10.3264334 619 22 42486723 42486723 G A exonic NDUFA6 NA nonsynonymous SNV NDUFA6:NM_002490:exon1:c.C104T:p.A35V exonic ENSG00000184983 NA nonsynonymous SNV ENSG00000184983:ENST00000498737:exon1:c.C104T:p.A35V,ENSG00000184983:ENST00000602404:exon1:c.C26T:p.A9V NA NA 22q13.2 NA Name=GTF2F1_(RAP-74),Oct-2,Max,YY1_(C-20),BCLAF1_(M33-P5B11),TAF7_(SQ-8),Pol2,Pol2(phosphoS2),POU2F2,TAF1,E2F6_(H-50),NF-YA,TBP,IRF1,GTF2B,c-Myc,HEY1,Pol2-4H8,YY1,Pol2(b) NA NA rs1801311 0.33 0.33 0.341 0.353834 0.335 0.1508 0.3271 0.5371 0.3538 0.33 0.17 0.32 0.55 0.3372 0.55 0.1 T 0.024 B 0.005 B 0.000 D 0.000 P 0.235 N -0.42 T -0.929 T 0.000 T 0.071 3.197 16.7 2.39 0.720 1.568 5.860 3.196846 3.196846 0.18 0.33593 0.493418 NA 0.362 NA 10.3252034 620 2 130931095 130931095 G A exonic SMPD4 NA synonymous SNV SMPD4:NM_017751:exon4:c.C378T:p.L126L,SMPD4:NM_017951:exon4:c.C378T:p.L126L exonic ENSG00000136699 NA stopgain ENSG00000136699:ENST00000339679:exon4:c.C115T:p.R39X Score=448;Name=lod=88 NA 2q21.1 NA NA NA NA rs145230616 0.0032 0.0032 0.004 0.00638978 0.004 NA 0.0043 0.0038 0.0204 0.004 NA 0.01 0.0041 0.004 0.011 0.92 T . . . . . . 1.000 D . . . . . . . . . 4.102 21.1 -4.12 -0.677 0.362 1.129 4.102182 4.102182 1 0.001163 0.00227 NA 0.007 NA 10.3241703 620 3 39307832 39307832 T C exonic CX3CR1 NA nonsynonymous SNV CX3CR1:NM_001171171:exon2:c.A169G:p.T57A,CX3CR1:NM_001171172:exon2:c.A169G:p.T57A,CX3CR1:NM_001171174:exon2:c.A265G:p.T89A,CX3CR1:NM_001337:exon2:c.A169G:p.T57A exonic ENSG00000168329 NA nonsynonymous SNV ENSG00000168329:ENST00000358309:exon2:c.A265G:p.T89A,ENSG00000168329:ENST00000399220:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000412814:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000435290:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000541347:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000542107:exon2:c.A169G:p.T57A NA NA 3p22.2 Score=790;Name=V$CMYB_01 NA NA NA rs199811198 NA NA NA 0.000798722 0.003 NA NA NA 0.001 NA NA NA NA 0.0029 0.0041 0 D 0.166 B 0.096 B 0.204 N 1.000 N 0.41 N 1.22 T -1.029 T 0.054 T 0.205 1.992 12.62 4.23 0.897 -0.084 6.122 1.991676 1.991676 0.1 0.004063 0.000248 NA NA NA 10.3233704 620 4 70146423 70146423 G A exonic UGT2B28 NA nonsynonymous SNV UGT2B28:NM_001207004:exon1:c.G205A:p.A69T,UGT2B28:NM_053039:exon1:c.G205A:p.A69T exonic ENSG00000135226 NA nonsynonymous SNV ENSG00000135226:ENST00000335568:exon1:c.G205A:p.A69T,ENSG00000135226:ENST00000511240:exon1:c.G205A:p.A69T NA NA 4q13.2 NA NA NA NA rs150261084 0.0023 0.0023 0.002 0.00139776 0.002 NA 0.0058 0.0008 NA 0.0026 NA 0.01 NA 0.0032 0.01 0.62 T 0.24 B 0.102 B 0.190 U 1.000 N -0.345 N 0.06 T -1.041 T 0.045 T 0.029 -2.019 0.006 -4.36 -4.831 -7.778 1.429 -2.019228 NA 0.53 0.005432 0.001719 NA NA NA 10.3227014 620 15 81592746 81592746 T A exonic IL16 NA nonsynonymous SNV IL16:NM_004513:exon2:c.T976A:p.S326T,IL16:NM_172217:exon13:c.T3079A:p.S1027T,IL16:NM_001172128:exon14:c.T3079A:p.S1027T exonic ENSG00000172349 NA nonsynonymous SNV ENSG00000172349:ENST00000394652:exon2:c.T976A:p.S326T,ENSG00000172349:ENST00000302987:exon13:c.T3079A:p.S1027T,ENSG00000172349:ENST00000394660:exon14:c.T3079A:p.S1027T,ENSG00000172349:ENST00000559388:exon16:c.T2941A:p.S981T NA NA 15q25.1 NA NA NA NA rs34101586 0.03 0.03 0.024 0.0305511 0.001 NA 0.0115 0.1089 NA NA NA 0.02 0.1 0.0094 0.1 0.89 T 0.304 B 0.05 B 0.277 N 1.000 N 0.895 L 3.37 T -0.997 T 0.001 T 0.108 1.254 10.09 -7.93 -1.675 -1.191 10.752 1.253775 1.253775 0.82 0.000349 0.097594 NA 0.029 NA 10.3225844 620 11 68747507 68747507 T G exonic MRGPRD NA nonsynonymous SNV MRGPRD:NM_198923:exon1:c.A949C:p.N317H exonic ENSG00000172938 NA nonsynonymous SNV ENSG00000172938:ENST00000309106:exon1:c.A949C:p.N317H NA NA 11q13.3 NA Name=ELF1_(SC-631) NA NA rs143309852 0.0027 0.0027 NA 0.00259585 0.004 NA 0.0043 0.0008 0.0051 0.01 NA 0.0028 0.002 0.0038 0.01 0.19 T 0.007 B 0.004 B 0.030 U 1.000 N 1.495 L 3.76 T -1.009 T 0.010 T 0.118 1.234 10.01 -9.11 -1.649 0.162 9.018 1.233728 1.233728 0.04 0.003697 0.001205 NA NA NA 10.3218364 620 5 7878179 7878179 C T exonic MTRR NA nonsynonymous SNV MTRR:NM_002454:exon5:c.C524T:p.S175L,MTRR:NM_024010:exon5:c.C605T:p.S202L exonic ENSG00000124275 NA nonsynonymous SNV ENSG00000124275:ENST00000264668:exon5:c.C605T:p.S202L,ENSG00000124275:ENST00000440940:exon5:c.C524T:p.S175L NA NA 5p15.31 Score=781;Name=V$HEN1_02 NA Name=46 NA rs1532268 0.25 0.25 0.27 0.269968 0.336 0.129 0.2147 0.2708 0.3855 0.34 0.1 0.23 0.31 0.3155 0.36 0.3 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N 4.37 T -0.910 T 0.000 T 0.301 0.982 9.011 -10.6 -2.652 -1.590 3.722 0.982408 NA 0.31 0.360116 0.266001 NA 0.203 NA 10.3217174 620 3 171452701 171452701 C T exonic PLD1 NA nonsynonymous SNV PLD1:NM_001130081:exon5:c.G494A:p.R165H,PLD1:NM_002662:exon5:c.G494A:p.R165H exonic ENSG00000075651 NA nonsynonymous SNV ENSG00000075651:ENST00000340989:exon5:c.G494A:p.R165H,ENSG00000075651:ENST00000342215:exon5:c.G494A:p.R165H,ENSG00000075651:ENST00000351298:exon5:c.G494A:p.R165H,ENSG00000075651:ENST00000356327:exon5:c.G494A:p.R165H NA NA 3q26.31 NA NA NA NA rs148972595 0.0027 0.0027 0.003 0.00239617 0.005 NA 0.0072 0.0008 0.001 0.0026 NA 0.01 NA 0.0025 0.01 0.28 T 0.013 B 0.022 B 0.000 N 1.000 N 1.115 L 3.32 T -1.059 T 0.039 T 0.148 2.181 13.25 4.01 1.436 1.468 9.058 2.181483 2.181483 0.07 0.004419 0.000908 NA 0.007 NA 10.3214144 620 5 181730 181730 C G exonic PLEKHG4B NA nonsynonymous SNV PLEKHG4B:NM_052909:exon17:c.C3436G:p.R1146G exonic ENSG00000153404 NA nonsynonymous SNV ENSG00000153404:ENST00000283426:exon17:c.C3436G:p.R1146G Score=395;Name=lod=54 NA 5p15.33 NA NA NA NA rs12519352 0.32 0.32 0.317 0.33147 0.503 0.256 0.3732 0.0817 0.5409 0.5 0.26 0.39 0.08 0.4659 0.55 0.08 T 0.997 D 0.859 P . . 1.000 P 0.345 N 1.17 T -0.965 T 0.000 T 0.163 0.32 5.732 3.21 1.335 . 7.717 0.319585 NA 0 0.546047 0.163414 NA 0.399 NA 10.3183864 620 1 152281690 152281690 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G5672A:p.R1891Q exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G5672A:p.R1891Q NA NA 1q21.3 NA NA NA NA rs12407748 0.25 0.25 0.197 0.28754 0.1421 0.5843 0.3905 0.0113 0.4315 0.15 0.55 0.31 0.02 0.2286 0.55 0.76 T 0.665 P 0.172 B . . 1.000 P 0.315 N 3.96 T -0.962 T 0.002 T 0.021 0.062 4.339 -3.57 -1.013 -4.006 7.831 0.062313 NA 0.5 0.144419 0.036768 NA 0.109 NA 10.3182144 620 22 36556823 36556823 G T exonic APOL3 NA nonsynonymous SNV APOL3:NM_145640:exon1:c.C117A:p.S39R exonic ENSG00000128284 NA nonsynonymous SNV ENSG00000128284:ENST00000349314:exon1:c.C117A:p.S39R,ENSG00000128284:ENST00000397289:exon1:c.C117A:p.S39R,ENSG00000128284:ENST00000422426:exon1:c.C117A:p.S39R,ENSG00000128284:ENST00000432700:exon1:c.C117A:p.S39R,ENSG00000128284:ENST00000531095:exon1:c.C9A:p.S3R NA NA 22q12.3 NA Name=Pol2-4H8,TBP,IRF1,NFKB,PRDM1_(Val90),Pol2,POU2F2,Oct-2 Name=97 NA rs132653 0.8 0.8 0.78 0.784744 0.8588 0.9762 0.8919 0.4372 0.9049 0.86 0.97 0.89 0.46 0.8306 0.97 0.05 D 0.976 D 0.447 P 0.005 N 1.000 P 0 N 3.57 T -0.824 T 0.000 T 0.051 0.512 6.774 -4.25 -0.934 -0.708 0.976 0.511823 NA 0 0.826395 0.500227 NA 0.71 NA 10.3175384 620 19 8171067 8171067 C T exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon37:c.G4738A:p.V1580I exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon37:c.G4738A:p.V1580I,ENSG00000142449:ENST00000600128:exon38:c.G4738A:p.V1580I,ENSG00000142449:ENST00000601739:exon38:c.G4738A:p.V1580I Score=572;Name=lod=281 NA 19p13.2 NA NA NA NA rs151274163 0.0023 0.0023 0.002 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0058 0.01 1 T 0.0 B 0.0 B 0.023 N 0.994 N 0.475 N -3.77 D -0.509 T 0.512 D 0.051 -1.831 0.009 -0.849 -0.252 -0.293 11.606 -1.830866 NA 1 0.005465 0.002724 ID=COSM1157870;OCCURENCE=1(pancreas) NA NA 10.3170684 620 2 220099713 220099713 C T exonic ANKZF1 NA nonsynonymous SNV ANKZF1:NM_001042410:exon10:c.C1370T:p.T457I,ANKZF1:NM_018089:exon10:c.C1370T:p.T457I exonic ENSG00000163516 NA nonsynonymous SNV ENSG00000163516:ENST00000409849:exon7:c.C740T:p.T247I,ENSG00000163516:ENST00000323348:exon10:c.C1370T:p.T457I,ENSG00000163516:ENST00000410034:exon10:c.C1370T:p.T457I NA NA 2q35 NA NA NA NA rs140395841 0.0018 0.0018 0.002 0.00199681 0.004 NA NA NA 0.0061 0.004 NA 0.0028 NA 0.0066 0.011 0.21 T 0.048 B 0.01 B 0.106 N 1.000 N 1.87 L 1.9 T -1.087 T 0.050 T 0.113 -0.372 2.247 5.2 2.705 1.800 15.585 -0.372488 NA 0.1 0.005978 0.002217 NA 0.007 NA 10.3167554 620 7 100486754 100486754 G C exonic UFSP1 NA nonsynonymous SNV UFSP1:NM_001015072:exon1:c.C139G:p.L47V exonic ENSG00000176125 NA nonsynonymous SNV ENSG00000176125:ENST00000388761:exon1:c.C139G:p.L47V NA Name=Resting heart rate 7q22.1 NA Name=Sin3Ak-20,Pol2-4H8 NA NA rs12666989 0.11 0.11 0.09 0.0884585 0.1829 0.0308 0.1023 0.0416 0.1043 0.2 0.03 0.12 0.04 0.156 0.2 0.62 T 0.77 P 0.353 B 0.268 N 1.000 P 0.535 N 1.56 T -1.026 T 0.000 T 0.156 -1.34 0.03 2.54 0.567 0.527 7.534 -1.33953 NA 0.67 0.17814 0.056338 NA 0.109 NA 10.3162934 620 19 38056763 38056763 C G exonic ZNF571 NA nonsynonymous SNV ZNF571:NM_016536:exon4:c.G567C:p.Q189H exonic ENSG00000180479 NA nonsynonymous SNV ENSG00000180479:ENST00000328550:exon4:c.G567C:p.Q189H,ENSG00000180479:ENST00000451802:exon4:c.G567C:p.Q189H,ENSG00000180479:ENST00000593133:exon4:c.G567C:p.Q189H,ENSG00000180479:ENST00000358744:exon5:c.G567C:p.Q189H NA NA 19q13.12 NA Name=KAP1 NA NA rs8111790 0.2 0.2 0.184 0.179912 0.3618 0.0288 0.2651 0.0885 0.2117 0.37 0.04 0.26 0.09 0.2905 0.37 1 T 0.0 B 0.001 B . . 0.000 P -2.725 N 4.75 T -0.931 T 0.000 T 0.078 -0.696 0.983 -6.98 -1.791 -2.048 3.981 -0.696452 NA 1 0.364884 0.133227 ID=COSM1393235;OCCURENCE=1(large_intestine) 0.304 NA 10.3161494 620 8 38869207 38869207 G A exonic ADAM9 NA nonsynonymous SNV ADAM9:NM_003816:exon3:c.G226A:p.E76K exonic ENSG00000168615 NA nonsynonymous SNV ENSG00000168615:ENST00000379917:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000466936:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000468065:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000481513:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000481873:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000487273:exon3:c.G226A:p.E76K Score=498;Name=lod=141 NA 8p11.22 Score=833;Name=V$OCT1_02 NA NA NA rs61753672 0.0027 0.0027 0 0.00399361 0.005 NA 0.0029 0.0008 0.0123 0.004 NA 0.01 0.002 0.0064 0.011 0.97 T 0.084 B 0.097 B 0.003 N 0.633 N 0.28 N 3.24 T -0.951 T 0.008 T 0.218 0.349 5.892 1.19 0.469 1.084 6.302 0.348613 NA 0.3 0.00593 0.000454 NA 0.007 NA 10.3160034 620 3 197401952 197401952 T C exonic KIAA0226 NA synonymous SNV KIAA0226:NM_014687:exon20:c.A2856G:p.S952S,KIAA0226:NM_001145642:exon21:c.A2721G:p.S907S exonic ENSG00000145016 NA synonymous SNV ENSG00000145016:ENST00000296343:exon20:c.A2856G:p.S952S,ENSG00000145016:ENST00000273582:exon21:c.A2721G:p.S907S Score=343;Name=lod=33 NA 3q29 NA NA NA NA rs28562770 0.21 0.21 0.239 0.236022 0.1173 0.0327 0.0865 0.6475 0.1176 0.11 0.04 0.09 0.65 0.1315 0.65 . . . . . . . . 0.000 P . . . . -0.928 T 0.000 T . 0.3 5.623 -5.35 -0.833 -7.278 1.096 0.299568 NA NA 0.101944 0.528594 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117386.2;CLNDSDB=.;CLNDSDBID=. 10.3159226 620 16 723506 723506 C T exonic RHOT2 NA nonsynonymous SNV RHOT2:NM_138769:exon19:c.C1757T:p.P586L exonic ENSG00000140983 NA nonsynonymous SNV ENSG00000140983:ENST00000315082:exon19:c.C1757T:p.P586L NA NA 16p13.3 NA NA Name=4 NA rs147973504 0.0018 0.0018 0.001 0.00279553 0.006 NA 0.0029 NA 0.0061 0.004 NA 0.0028 NA 0.0053 0.011 0.12 T 0.021 B 0.017 B 0.007 N 0.733 N 0.345 N 2.58 T -1.024 T 0.017 T 0.146 1.405 10.63 4.64 2.139 0.468 14.996 1.404865 1.404865 0.04 0.006401 0.000909 ID=COSM328360;OCCURENCE=1(pancreas) 0.007 NA 10.3156324 621 2 220354108 220354108 A G exonic SPEG NA nonsynonymous SNV SPEG:NM_005876:exon36:c.A8368G:p.R2790G exonic ENSG00000072195 NA nonsynonymous SNV ENSG00000072195:ENST00000312358:exon36:c.A8368G:p.R2790G Score=437;Name=lod=80 NA 2q35 NA NA NA NA rs55760516 0.37 0.37 0.325 0.408347 0.334 0.2321 0.4092 0.5333 0.4969 0.33 0.25 0.43 0.52 0.3622 0.52 1 T 0.0 B 0.0 B 0.002 N 0.000 P 0 N -0.03 T -0.947 T 0.000 T 0.028 0.944 8.848 4.33 1.063 1.890 6.806 0.943804 NA 0.19 0.323814 0.480769 NA 0.261 NA 10.3133194 621 21 47614469 47614469 A C exonic LSS NA nonsynonymous SNV LSS:NM_001145437:exon19:c.T1684G:p.L562V,LSS:NM_001001438:exon20:c.T1924G:p.L642V,LSS:NM_001145436:exon20:c.T1891G:p.L631V,LSS:NM_002340:exon20:c.T1924G:p.L642V exonic ENSG00000160285 NA nonsynonymous SNV ENSG00000160285:ENST00000457828:exon19:c.T1684G:p.L562V,ENSG00000160285:ENST00000356396:exon20:c.T1924G:p.L642V,ENSG00000160285:ENST00000397728:exon20:c.T1924G:p.L642V,ENSG00000160285:ENST00000522411:exon20:c.T1891G:p.L631V Score=391;Name=lod=52 NA 21q22.3 NA Name=Rad21 Name=4 NA rs2254524 0.74 0.74 0.773 0.732228 0.6809 0.6875 0.5821 0.9319 0.6677 0.68 0.72 0.6 0.94 0.675 0.94 1 T 0.0 B 0.0 B 0.044 N 1.000 P -2.365 N 2.07 T -0.995 T 0.000 T 0.188 -0.136 3.333 3.26 0.275 2.308 7.861 -0.136198 NA 1 0.666512 0.888561 ID=COSM444622;OCCURENCE=1(breast) 0.862 NA 10.3109214 621 19 14001206 14001206 G A exonic C19orf57 NA nonsynonymous SNV C19orf57:NM_024323:exon6:c.C463T:p.L155F exonic ENSG00000132016 NA nonsynonymous SNV ENSG00000132016:ENST00000586783:exon5:c.C463T:p.L155F,ENSG00000132016:ENST00000346736:exon6:c.C463T:p.L155F,ENSG00000132016:ENST00000454313:exon6:c.C463T:p.L155F NA NA 19p13.12 NA NA NA NA rs144502446 0.0046 0.0046 0.01 0.00279553 0.0089 NA 0.0014 0.0023 0.001 0.01 NA NA 0.0041 0.0072 0.011 0.25 T 0.0 B 0.001 B . . 1.000 N 0.145 N 1.67 T -1.066 T 0.020 T 0.023 -0.896 0.447 -5.29 -3.561 -4.466 0.575 -0.895879 NA 0.27 0.006409 0.001136 NA 0.007 NA 10.3108244 621 13 103459861 103459861 A G exonic BIVM,BIVM-ERCC5 NA nonsynonymous SNV BIVM-ERCC5:NM_001204425:exon1:c.A244G:p.I82V,BIVM:NM_017693:exon3:c.A244G:p.I82V exonic ENSG00000134897,ENSG00000270181 NA nonsynonymous SNV ENSG00000134897:ENST00000419638:exon2:c.A244G:p.I82V,ENSG00000134897:ENST00000257336:exon3:c.A244G:p.I82V Score=609;Name=lod=399 NA 13q33.1 NA NA Name=5 NA rs41281670 0.0023 0.0023 0.003 0.00159744 0.006 NA 0.0029 NA NA 0.01 NA NA NA 0.0054 0.011 0.74 T 0.005 B 0.006 B 0.003 N 1.000 D 0 N . . -1.059 T 0.029 T 0.1 0.929 8.784 -1.0 -0.318 0.150 1.398 0.928949 NA 0.95 0.011512 0.00227 NA NA NA 10.3104214 621 17 41244435 41244435 T C exonic BRCA1 NA nonsynonymous SNV BRCA1:NM_007297:exon9:c.A2972G:p.E991G,BRCA1:NM_007294:exon10:c.A3113G:p.E1038G,BRCA1:NM_007300:exon10:c.A3113G:p.E1038G exonic ENSG00000012048 NA nonsynonymous SNV ENSG00000012048:ENST00000309486:exon9:c.A2225G:p.E742G,ENSG00000012048:ENST00000493795:exon9:c.A2972G:p.E991G,ENSG00000012048:ENST00000346315:exon10:c.A3113G:p.E1038G,ENSG00000012048:ENST00000354071:exon10:c.A3113G:p.E1038G,ENSG00000012048:ENST00000357654:exon10:c.A3113G:p.E1038G,ENSG00000012048:ENST00000471181:exon10:c.A3113G:p.E1038G NA NA 17q21.31 NA NA NA NA rs16941 0.3 0.3 0.271 0.335663 0.3569 0.371 0.3646 0.1573 0.498 0.36 0.33 0.38 0.13 0.3429 0.38 0.04 D 0.936 P 0.606 P 0.155 N 1.000 P 2.54 M -1.24 T -1.094 T 0.000 T 0.252 1.803 11.99 -0.974 0.112 -0.480 6.162 1.80339 1.80339 0.04 0.325465 0.188379 NA 0.254 CLINSIG=non-pathogenic|non-pathogenic|untested|untested|non-pathogenic;CLNDBN=not_provided|Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|mult|not|not|single;CLNACC=RCV000034738.2|RCV000112006.2|RCV000114987.1|RCV000120276.1|RCV000128978.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|.|MedGen;CLNDSDBID=.|NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|.|C0027672 10.3080684 621 19 57648277 57648277 A T exonic ZIM3 NA nonsynonymous SNV ZIM3:NM_052882:exon4:c.T205A:p.L69M exonic ENSG00000141946 NA nonsynonymous SNV ENSG00000141946:ENST00000269834:exon4:c.T205A:p.L69M NA NA 19q13.43 NA Name=PU.1 NA NA rs4801200 0.4 0.4 0.381 0.420927 0.5099 0.3621 0.4755 0.267 0.5593 0.49 0.36 0.51 0.24 0.4865 0.53 1 T 0.704 P 0.198 B . . 1.000 P -0.91 N 3.57 T -0.938 T 0.000 T 0.028 0.635 7.413 -4.65 -1.311 -1.600 3.276 0.635215 NA 0.11 0.529535 0.310259 NA 0.283 NA 10.3073984 621 3 58395863 58395863 A G exonic PXK NA nonsynonymous SNV PXK:NM_017771:exon16:c.A1442G:p.K481R exonic ENSG00000168297 NA nonsynonymous SNV ENSG00000168297:ENST00000493474:exon2:c.A50G:p.K17R,ENSG00000168297:ENST00000459676:exon7:c.A521G:p.K174R,ENSG00000168297:ENST00000536660:exon13:c.A1031G:p.K344R,ENSG00000168297:ENST00000383716:exon14:c.A1343G:p.K448R,ENSG00000168297:ENST00000463280:exon14:c.A1343G:p.K448R,ENSG00000168297:ENST00000302779:exon15:c.A1391G:p.K464R,ENSG00000168297:ENST00000383715:exon15:c.A1391G:p.K464R,ENSG00000168297:ENST00000479241:exon15:c.A1391G:p.K464R,ENSG00000168297:ENST00000356151:exon16:c.A1442G:p.K481R,ENSG00000168297:ENST00000484288:exon16:c.A1442G:p.K481R Score=496;Name=lod=138 NA 3p14.3 NA NA NA NA rs56384862 0.2 0.2 0.184 0.177316 0.3777 0.001 0.2767 0.1112 0.1718 0.36 NA 0.3 0.13 0.2759 0.37 0.24 T 0.107 B 0.021 B 0.002 N 0.004 P 1.265 L 2.14 T -0.978 T 0.000 T 0.241 2.69 14.95 5.9 2.268 4.760 14.945 2.689584 2.689584 0.03 0.372674 0.131639 ID=COSM446941;OCCURENCE=1(breast) 0.29 NA 10.3070594 621 13 103343230 103343230 C G exonic METTL21C NA nonsynonymous SNV METTL21C:NM_001010977:exon2:c.G215C:p.R72P exonic ENSG00000139780 NA nonsynonymous SNV ENSG00000139780:ENST00000267273:exon2:c.G215C:p.R72P NA NA 13q33.1 Score=845;Name=V$GATA1_02 NA NA NA rs149948690 0.0032 0.0032 0.002 0.00359425 0.007 NA 0.0043 0.0008 0.0072 0.01 NA 0.0028 0.002 0.01 0.01 0.28 T 0.431 B 0.071 B 0.025 N 1.000 N 0.55 N 2.51 T -1.035 T 0.013 T 0.11 1.59 11.27 -4.69 -0.770 -0.991 3.606 1.590051 1.590051 0.2 0.010116 0.001135 NA NA NA 10.3062174 621 5 52240850 52240850 C A exonic ITGA1 NA nonsynonymous SNV ITGA1:NM_181501:exon27:c.C3363A:p.S1121R exonic ENSG00000213949 NA nonsynonymous SNV ENSG00000213949:ENST00000282588:exon27:c.C3363A:p.S1121R Score=450;Name=lod=90 NA 5q11.2 Score=791;Name=V$MEF2_02 NA Name=20 NA rs151102756 0.01 0.01 0.005 0.00539137 0.0129 0.001 0.0014 NA 0.0123 0.01 0.0017 0.0028 NA 0.0072 0.01 0.41 T 0.136 B 0.017 B 0.042 N 0.860 N 0.64 N 0.79 T -1.103 T 0.039 T 0.202 2.011 12.68 0.424 0.381 -0.592 0.543 2.010677 2.010677 0.12 0.007907 0.001362 NA NA NA 10.3053264 622 22 21133831 21133831 C A exonic SERPIND1 NA nonsynonymous SNV SERPIND1:NM_000185:exon2:c.C231A:p.D77E exonic ENSG00000099937 NA nonsynonymous SNV ENSG00000099937:ENST00000406799:exon1:c.C231A:p.D77E,ENSG00000099937:ENST00000215727:exon2:c.C231A:p.D77E NA NA 22q11.21 NA NA NA NA rs5903 NA NA NA 0.00339457 0.0119 NA 0.0043 NA 0.002 NA NA NA NA 0.0069 0.0097 1 T 0.0 B 0.0 B 0.001 N 1.000 N -0.295 N -1.53 D -0.812 T 0.089 T 0.122 0.164 4.885 -11.5 -1.815 -2.171 7.576 0.164489 NA 1 0.009651 0.00227 NA NA NA 10.3048824 622 4 1165130 1165130 G T exonic SPON2 NA nonsynonymous SNV SPON2:NM_012445:exon3:c.C365A:p.A122E,SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E exonic ENSG00000159674 NA nonsynonymous SNV ENSG00000159674:ENST00000290902:exon3:c.C365A:p.A122E,ENSG00000159674:ENST00000431380:exon4:c.C365A:p.A122E NA NA 4p16.3 Score=850;Name=V$AHRARNT_01 Name=CTCF Name=25 NA rs11247975 0.58 0.58 0.601 0.554513 0.6839 0.6756 0.7089 0.2284 0.6278 0.68 0.7 0.67 0.23 0.6624 0.7 0.91 T 0.009 B 0.019 B 0.036 N 0.998 P . . 1.04 T -1.020 T 0.000 T 0.027 0.628 7.379 -8.23 -2.550 0.841 10.976 0.628442 NA 0.39 0.68635 0.313008 NA 0.174 NA 10.3006834 622 17 36959002 36959002 G A exonic CWC25 NA nonsynonymous SNV CWC25:NM_017748:exon9:c.C1114T:p.R372W exonic ENSG00000108296 NA nonsynonymous SNV ENSG00000108296:ENST00000225428:exon9:c.C1114T:p.R372W,ENSG00000108296:ENST00000536127:exon10:c.C925T:p.R309W Score=472;Name=lod=111 NA 17q12 NA NA NA NA rs139189793 0.0032 0.0032 0.003 0.00319489 0.008 NA 0.0029 0.0008 0.0051 0.01 NA 0.0028 0.002 0.0095 0.015 0.06 T 0.004 B 0.002 B 0.002 N 0.994 D 1.795 L . . -0.920 T 0.100 T 0.102 2.871 15.57 1.4 0.367 3.333 8.846 2.871419 2.871419 0.08 0.015318 0.003 NA 0.007 NA 10.3005154 622 16 84270476 84270476 G A exonic KCNG4 NA nonsynonymous SNV KCNG4:NM_172347:exon2:c.C616T:p.R206W exonic ENSG00000168418 NA nonsynonymous SNV ENSG00000168418:ENST00000308251:exon2:c.C616T:p.R206W,ENSG00000168418:ENST00000568181:exon2:c.C616T:p.R206W NA NA 16q24.1 Score=971;Name=V$AP4_Q6 NA NA NA rs11646443 0.24 0.24 0.214 0.273762 0.3628 0.1161 0.2507 0.2262 0.4254 0.36 0.11 0.25 0.19 0.3357 0.36 0.17 T 0.055 B 0.011 B 0.808 U 1.000 P 0.805 L -4.21 D -1.095 T 0.000 T 0.092 1.675 11.56 3.0 0.386 1.442 5.841 1.675051 1.675051 0.15 0.334691 0.245905 NA 0.37 NA 10.3001424 622 11 55541019 55541019 G A exonic OR5D13 NA nonsynonymous SNV OR5D13:NM_001001967:exon1:c.G106A:p.V36I exonic ENSG00000198877 NA nonsynonymous SNV ENSG00000198877:ENST00000361760:exon1:c.G106A:p.V36I NA NA 11q11 NA NA NA NA rs147031394 0.01 0.01 0.008 0.0071885 0.0139 0.001 0.0101 0.0038 0.0092 0.01 NA 0.01 0.01 0.0094 0.012 1 T 0.002 B 0.001 B 0.860 N 1.000 N -0.37 N 7.44 T -0.999 T 0.000 T 0.023 -1.392 0.024 -4.35 -0.957 -1.802 4.036 -1.392498 NA 1 0.012221 0.003864 NA 0.007 NA 10.2978124 622 6 27420048 27420048 G C exonic ZNF184 NA nonsynonymous SNV ZNF184:NM_007149:exon6:c.C1290G:p.H430Q exonic ENSG00000096654 NA nonsynonymous SNV ENSG00000096654:ENST00000211936:exon6:c.C1290G:p.H430Q,ENSG00000096654:ENST00000377419:exon6:c.C1290G:p.H430Q NA NA 6p22.1 NA Name=KAP1,SETDB1 NA NA rs61736956 0.01 0.01 0.005 0.00519169 0.0129 NA 0.013 NA 0.0041 0.01 NA 0.02 NA 0.0097 0.02 0.47 T 0.043 B 0.02 B 0.000 D 0.999 N 0.19 N 2.49 T -0.914 T 0.006 T 0.235 1.071 9.372 2.49 0.810 -0.682 9.238 1.070845 NA 0.42 0.013488 0.004085 NA 0.058 NA 10.2972454 622 11 28119309 28119309 T G exonic KIF18A NA nonsynonymous SNV KIF18A:NM_031217:exon2:c.A186C:p.Q62H exonic ENSG00000121621 NA nonsynonymous SNV ENSG00000121621:ENST00000263181:exon2:c.A186C:p.Q62H Score=587;Name=lod=324 NA 11p14.1 NA NA NA NA rs144868444 0.01 0.01 0.004 0.00359425 0.0159 NA NA NA 0.002 0.02 NA NA NA 0.0088 0.02 0.57 T 0.001 B 0.012 B 0.001 D 0.906 N 0.51 N -0.91 T -1.045 T 0.088 T 0.034 1.141 9.649 3.16 0.442 0.411 1.892 1.140934 NA 0.16 0.012448 0.002044 NA 0.007 NA 10.2961854 622 15 85447434 85447434 G T exonic SLC28A1 NA nonsynonymous SNV SLC28A1:NM_004213:exon7:c.G568T:p.A190S exonic ENSG00000156222 NA nonsynonymous SNV ENSG00000156222:ENST00000286749:exon6:c.G568T:p.A190S,ENSG00000156222:ENST00000538177:exon6:c.G568T:p.A190S,ENSG00000156222:ENST00000394573:exon7:c.G568T:p.A190S,ENSG00000156222:ENST00000537216:exon7:c.G568T:p.A190S,ENSG00000156222:ENST00000537624:exon7:c.G568T:p.A190S,ENSG00000156222:ENST00000537703:exon7:c.G334T:p.A112S NA NA 15q25.3 NA NA NA NA rs45523532 0.01 0.01 0.007 0.0081869 0.0139 0.001 0.013 0.0129 NA 0.01 0.0017 0.01 0.02 0.0092 0.022 0.11 T 0.012 B 0.032 B 0.147 N 1.000 N 0.4 N 2.4 T -1.031 T 0.010 T 0.097 -0.489 1.754 -8.76 -2.978 -4.106 1.207 -0.488578 NA 0.04 0.014422 0.013845 NA 0.014 NA 10.2958114 623 11 120973430 120973430 A G exonic TECTA NA nonsynonymous SNV TECTA:NM_005422:exon1:c.A56G:p.Q19R exonic ENSG00000109927 NA nonsynonymous SNV ENSG00000109927:ENST00000264037:exon1:c.A56G:p.Q19R,ENSG00000109927:ENST00000392793:exon2:c.A56G:p.Q19R Score=637;Name=lod=518 NA 11q23.3 Score=773;Name=V$NRSF_01 NA NA NA rs35507522 0.03 0.03 0.03 0.0413339 0.0099 NA 0.0101 0.1256 0.0245 0.01 NA 0.0028 0.12 0.0201 0.12 1 T 0.0 B 0.0 B 0.967 N 1.000 N -1.095 N 1.3 T -1.039 T 0.001 T 0.044 -0.714 0.926 -1.09 -0.408 0.028 12.607 -0.714189 NA 1 0.009537 0.10236 NA 0.036 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038504.1;CLNDSDB=.;CLNDSDBID=. 10.2937964 623 9 112219474 112219474 C G exonic PTPN3 NA nonsynonymous SNV PTPN3:NM_001145368:exon4:c.G268C:p.A90P,PTPN3:NM_002829:exon4:c.G268C:p.A90P exonic ENSG00000070159 NA nonsynonymous SNV ENSG00000070159:ENST00000262539:exon4:c.G20C:p.S7T,ENSG00000070159:ENST00000374541:exon4:c.G268C:p.A90P Score=529;Name=lod=188 NA 9q31.3 NA NA NA NA rs3793524 0.38 0.38 0.399 0.408347 0.3439 0.3442 0.2939 0.5318 0.455 0.35 0.35 0.33 0.5 0.3568 0.5 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.26 N -1.04 T -0.988 T 0.000 T 0.1 4.526 24.4 5.56 1.370 6.534 16.312 4.525557 4.525557 1 0.338953 0.48207 NA 0.42 NA 10.2936804 623 18 29793346 29793346 C T exonic MEP1B NA nonsynonymous SNV MEP1B:NM_005925:exon11:c.C1403T:p.A468V exonic ENSG00000141434 NA nonsynonymous SNV ENSG00000141434:ENST00000269202:exon11:c.C1403T:p.A468V,ENSG00000141434:ENST00000581447:exon11:c.C1403T:p.A468V NA NA 18q12.1 NA NA NA NA rs141050716 0.01 0.01 0.005 0.00878594 0.0159 NA 0.0274 0.0015 0.0072 0.01 NA 0.03 0.0041 0.0104 0.03 0.05 D 0.039 B 0.049 B 0.418 N 1.000 N -0.55 N 0.97 T -0.955 T 0.013 T 0.049 0.29 5.569 -11.4 -2.917 -1.797 11.117 0.289753 NA 0.28 0.015819 0.003185 NA 0.007 NA 10.2912144 623 19 14153293 14153293 T C exonic IL27RA NA nonsynonymous SNV IL27RA:NM_004843:exon5:c.T563C:p.L188P exonic ENSG00000104998 NA nonsynonymous SNV ENSG00000104998:ENST00000263379:exon5:c.T563C:p.L188P NA NA 19p13.12 NA NA NA NA rs35026308 0.16 0.16 0.132 0.141773 0.1968 0.2659 0.1311 0.0212 0.1278 0.19 0.26 0.14 0.02 0.1625 0.26 0.27 T 0.978 D 0.694 P 0.537 N 1.000 P 0.975 L 0.52 T -1.073 T 0.000 T 0.142 1.708 11.67 2.52 0.330 1.225 7.559 1.708448 1.708448 0.06 0.186744 0.043577 NA 0.123 NA 10.2872894 623 2 228194480 228194480 A T exonic MFF NA nonsynonymous SNV MFF:NM_001277061:exon3:c.A19T:p.S7C,MFF:NM_020194:exon3:c.A19T:p.S7C exonic ENSG00000168958 NA nonsynonymous SNV ENSG00000168958:ENST00000353339:exon3:c.A19T:p.S7C,ENSG00000168958:ENST00000392059:exon3:c.A19T:p.S7C,ENSG00000168958:ENST00000436237:exon3:c.A19T:p.S7C,ENSG00000168958:ENST00000443428:exon3:c.A19T:p.S7C Score=534;Name=lod=198 NA 2q36.3 NA NA NA NA rs3211097 0.2 0.2 0.201 0.269369 0.3678 0.2431 0.245 0.0961 0.4468 0.27 0.19 0.24 0.07 0.3291 0.35 . . 0.0 B 0.001 B 0.013 N 0.000 P 0.69 N 1.33 T -0.989 T 0.000 T 0.257 2.649 14.82 4.8 1.049 3.440 10.393 2.649436 2.649436 0 0.349186 0.118248 NA NA NA 10.2872474 624 1 26357656 26357656 C A exonic EXTL1 NA nonsynonymous SNV EXTL1:NM_004455:exon5:c.C1135A:p.H379N exonic ENSG00000158008 NA nonsynonymous SNV ENSG00000158008:ENST00000374280:exon5:c.C1135A:p.H379N NA NA 1p36.11 Score=870;Name=V$SREBP1_02 NA NA NA rs2736831 0.61 0.61 0.567 0.594249 0.6978 0.75 0.732 0.2027 0.7587 0.72 0.73 0.72 0.23 0.6742 0.73 0.27 T 0.029 B 0.01 B 0.019 N 0.557 P 1.5 L -3.54 D -0.903 T 0.000 T 0.057 4.233 22 4.7 2.453 1.294 16.601 4.233153 4.233153 NA 0.678256 0.289605 NA 0.377 NA 10.2830774 624 7 139715645 139715645 C A exonic TBXAS1 NA nonsynonymous SNV TBXAS1:NM_001061:exon11:c.C1352A:p.T451N,TBXAS1:NM_030984:exon11:c.C1352A:p.T451N,TBXAS1:NM_001166253:exon12:c.C1490A:p.T497N,TBXAS1:NM_001166254:exon13:c.C1148A:p.T383N,TBXAS1:NM_001130966:exon15:c.C1352A:p.T451N exonic ENSG00000059377 NA nonsynonymous SNV ENSG00000059377:ENST00000411653:exon11:c.C1349A:p.T450N,ENSG00000059377:ENST00000414508:exon11:c.C1352A:p.T451N,ENSG00000059377:ENST00000436047:exon11:c.C1352A:p.T451N,ENSG00000059377:ENST00000448866:exon11:c.C1349A:p.T450N,ENSG00000059377:ENST00000416849:exon12:c.C1490A:p.T497N,ENSG00000059377:ENST00000458722:exon12:c.C1487A:p.T496N,ENSG00000059377:ENST00000425687:exon13:c.C1148A:p.T383N,ENSG00000059377:ENST00000263552:exon15:c.C1352A:p.T451N,ENSG00000059377:ENST00000336425:exon15:c.C1349A:p.T450N Score=295;Name=lod=21 NA 7q34 Score=875;Name=V$HNF4_01 NA NA NA rs5763 0.01 0.01 0.006 0.00539137 0.0149 NA 0.0072 0.0015 0.0051 0.01 NA 0.01 0.002 0.0148 0.021 0.07 T 0.011 B 0.07 B 0.019 N 1.000 D 1.495 L -0.4 T -0.987 T 0.100 T 0.094 -0.133 3.35 0.297 0.039 -0.032 4.204 -0.132775 NA 0.06 0.020698 0.003404 NA 0.007 NA 10.2829354 624 1 18807953 18807953 C A exonic KLHDC7A NA nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C478A:p.R160S exonic ENSG00000179023 NA nonsynonymous SNV ENSG00000179023:ENST00000400664:exon1:c.C478A:p.R160S NA NA 1p36.13 NA Name=TCF12,ERalpha_a,PAX5-N19 Name=11 NA rs11261022 0.31 0.31 0.299 0.279553 0.3628 0.2321 0.3401 0.2534 0.2352 0.38 0.24 0.29 0.28 0.3362 0.38 0.62 T 0.026 B 0.008 B 0.550 U 1.000 P 0 N -0.62 T -1.049 T 0.000 T 0.033 1.765 11.86 -3.99 -0.507 -4.138 2.446 1.764864 1.764864 0.26 0.351466 0.2494 NA 0.225 NA 10.2828674 624 2 207162033 207162033 A G exonic ZDBF2 NA nonsynonymous SNV ZDBF2:NM_020923:exon4:c.A124G:p.S42G exonic ENSG00000204186 NA nonsynonymous SNV ENSG00000204186:ENST00000374423:exon4:c.A124G:p.S42G NA NA 2q33.3 NA NA NA NA rs116382753 0.01 0.01 0.006 0.00559105 0.0169 NA 0.0115 0.0008 0.002 0.02 NA 0.02 NA 0.0144 0.022 0.01 D 0.137 B 0.049 B . . 1.000 N 1.5 L 2.06 T -1.044 T 0.024 T 0.091 3.498 17.88 3.66 0.804 5.597 8.266 3.498075 3.498075 0.01 0.019506 0.005529 NA 0.014 NA 10.2825274 624 5 174106 174106 G A exonic PLEKHG4B NA nonsynonymous SNV PLEKHG4B:NM_052909:exon16:c.G3227A:p.R1076Q exonic ENSG00000153404 NA nonsynonymous SNV ENSG00000153404:ENST00000283426:exon16:c.G3227A:p.R1076Q Score=579;Name=lod=301 NA 5p15.33 NA NA Name=3 NA rs4956987 0.33 0.33 0.303 0.338858 0.504 0.2659 0.3804 0.0877 0.5542 0.5 0.26 0.39 0.09 0.4992 0.55 0.08 T 0.994 D 0.862 P . . 0.981 P 0.95 L 2.79 T -0.916 T 0.000 T 0.05 2.606 14.67 0.527 -0.290 3.436 7.067 2.605848 2.605848 0.02 0.54907 0.167953 NA 0.391 NA 10.2810634 624 4 79455714 79455714 C G exonic FRAS1 NA synonymous SNV FRAS1:NM_025074:exon71:c.C11037G:p.P3679P exonic ENSG00000138759 NA synonymous SNV ENSG00000138759:ENST00000264895:exon71:c.C11037G:p.P3679P Score=491;Name=lod=132 NA 4q21.21 Score=942;Name=V$CDPCR3HD_01 Name=ERalpha_a NA NA rs4975070 0.52 0.52 0.52 0.514976 0.4632 0.7758 0.4395 0.3086 0.6319 0.47 0.79 0.45 0.35 0.4884 0.79 . . . . . . . . 0.000 P . . . . -0.987 T 0.000 T . 0.402 6.186 3.2 2.336 0.493 9.098 0.402486 NA NA 0.435938 0.337645 NA 0.486 NA 10.2791286 624 15 42134416 42134416 C T exonic JMJD7-PLA2G4B,PLA2G4B NA nonsynonymous SNV PLA2G4B:NM_001114633:exon9:c.C647T:p.A216V,JMJD7-PLA2G4B:NM_001198588:exon14:c.C1340T:p.A447V,JMJD7-PLA2G4B:NM_005090:exon14:c.C1340T:p.A447V exonic ENSG00000168970,ENSG00000243708 NA nonsynonymous SNV ENSG00000168970:ENST00000458483:exon9:c.C647T:p.A216V,ENSG00000243708:ENST00000452633:exon10:c.C647T:p.A216V,ENSG00000168970:ENST00000342159:exon14:c.C1340T:p.A447V,ENSG00000168970:ENST00000382448:exon14:c.C1340T:p.A447V Score=340;Name=lod=32 NA 15q15.1 NA NA NA NA rs117260632 0.01 0.01 0.007 0.00579073 0.0189 NA 0.0115 0.0015 NA 0.02 NA 0.02 NA 0.015 0.021 1 T 0.001 B 0.001 B 0.000 N 1.000 N -2.25 N 5.25 T -0.938 T 0.001 T 0.148 0.159 4.854 4.7 0.755 2.220 7.470 0.158741 NA 1 0.020581 0.002951 NA NA NA 10.2788524 624 21 22746187 22746187 T C exonic NCAM2 NA nonsynonymous SNV NCAM2:NM_004540:exon9:c.T1049C:p.L350P exonic ENSG00000154654 NA nonsynonymous SNV ENSG00000154654:ENST00000284894:exon6:c.T623C:p.L208P,ENSG00000154654:ENST00000400546:exon9:c.T1049C:p.L350P,ENSG00000154654:ENST00000535285:exon10:c.T1124C:p.L375P Score=428;Name=lod=73 NA 21q21.1 NA NA Name=20 NA rs232518 0.4 0.4 0.395 0.389776 0.3539 0.5804 0.2939 0.3782 0.3139 0.36 0.53 0.31 0.36 0.35 0.53 0.27 T 0.0 B 0.001 B 0.000 N 0.024 P -0.195 N 1.5 T -0.917 T 0.000 T 0.045 1.492 10.94 4.54 0.679 1.490 6.180 1.491592 1.491592 0.24 0.350924 0.369336 NA 0.312 NA 10.2785094 624 3 186390627 186390627 C T exonic HRG NA nonsynonymous SNV HRG:NM_000412:exon5:c.C610T:p.P204S exonic ENSG00000113905 NA nonsynonymous SNV ENSG00000113905:ENST00000232003:exon5:c.C610T:p.P204S Score=376;Name=lod=45 Name=Activated partial thromboplastin time 3q27.3 NA NA NA NA rs9898 0.46 0.46 0.487 0.491414 0.327 0.5724 0.3977 0.6278 0.4591 0.32 0.54 0.42 0.63 0.3854 0.63 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.935 N 2.64 T -0.951 T 0.000 T 0.133 -1.67 0.012 4.35 0.779 2.157 7.213 -1.670189 NA 1 0.342442 0.593509 ID=COSM1179693;OCCURENCE=1(prostate) 0.391 NA 10.2784914 624 11 85437226 85437226 T C exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_206927:exon1:c.A274G:p.I92V,SYTL2:NM_206928:exon1:c.A274G:p.I92V exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000354566:exon1:c.A274G:p.I92V,ENSG00000137501:ENST00000359152:exon1:c.A1846G:p.I616V,ENSG00000137501:ENST00000389959:exon1:c.A274G:p.I92V,ENSG00000137501:ENST00000525423:exon1:c.A274G:p.I92V NA NA 11q14.1 NA Name=eGFP-JunD,TCF4,c-Jun,GATA-2,c-Fos,STAT3,JunD,eGFP-JunB,p300_(N-15),eGFP-FOS,SETDB1 Name=119 NA rs75207631 0.01 0.01 0.008 0.00599042 0.0189 NA 0.0086 NA 0.0051 0.02 NA 0.01 0.002 0.0134 0.024 . . 0.008 B 0.002 B 0.963 N 1.000 N 0.695 N 1.61 T -1.008 T 0.024 T 0.058 -0.26 2.751 2.32 0.475 -0.036 6.724 -0.26008 NA 0.44 0.024424 0.003631 NA 0.007 NA 10.2766094 624 19 12089805 12089805 C G exonic ZNF763 NA nonsynonymous SNV ZNF763:NM_001012753:exon4:c.C1075G:p.R359G exonic ENSG00000197054,ENSG00000267179 NA nonsynonymous SNV ENSG00000197054:ENST00000545530:exon2:c.C700G:p.R234G,ENSG00000197054:ENST00000343949:exon4:c.C1075G:p.R359G,ENSG00000197054:ENST00000358987:exon4:c.C1066G:p.R356G,ENSG00000197054:ENST00000538752:exon4:c.C1126G:p.R376G,ENSG00000267179:ENST00000590798:exon4:c.C1126G:p.R376G NA NA 19p13.2 NA NA NA NA rs7250894 0.02 0.02 0.019 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 0.0167 0.03 0.07 T 0.997 D 0.973 D . . 1.000 N 1.305 L 1.96 T -1.072 T 0.024 T 0.044 1.257 10.1 -2.81 -0.819 0.127 1.016 1.256644 1.256644 0 0.018432 0.027239 NA 0.014 NA 10.2753014 625 11 111781047 111781047 A C intronic CRYAB NA NA NA exonic ENSG00000109846 NA nonsynonymous SNV ENSG00000109846:ENST00000533971:exon2:c.T328G:p.C110G NA NA 11q23.1 NA NA NA NA rs11603779 0.27 0.27 0.257 0.239816 0.3231 0.1905 0.3069 0.1952 0.2178 0.32 0.18 0.35 0.23 0.2695 0.35 0.04 D 0.0 B 0.001 B . . 1.000 P . . -2.68 D -1.030 T 0.000 T 0.083 -0.046 3.779 -6.74 -1.113 . 2.709 -0.045988 NA NA 0.299977 0.218537 NA 0.304 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037213.1|RCV000124611.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.2740897 625 10 121679013 121679013 A G exonic SEC23IP NA nonsynonymous SNV SEC23IP:NM_007190:exon11:c.A1930G:p.K644E exonic ENSG00000107651 NA nonsynonymous SNV ENSG00000107651:ENST00000543134:exon10:c.A1297G:p.K433E,ENSG00000107651:ENST00000369075:exon11:c.A1930G:p.K644E Score=507;Name=lod=153 NA 10q26.11 NA NA Name=25 NA rs2475298 0.74 0.74 0.747 0.751398 0.671 0.8363 0.7248 0.7821 0.7239 0.68 0.84 0.69 0.75 0.7164 0.84 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.59 N 1.0 T -0.966 T 0.000 T 0.079 -0.503 1.697 5.15 1.326 3.883 10.432 -0.502512 NA 1 0.672442 0.778938 NA 0.739 NA 10.2734914 625 22 45255630 45255630 T C exonic ARHGAP8,PRR5-ARHGAP8 NA synonymous SNV ARHGAP8:NM_181335:exon11:c.T897C:p.R299R,ARHGAP8:NM_001017526:exon12:c.T990C:p.R330R,PRR5-ARHGAP8:NM_181334:exon14:c.T1263C:p.R421R exonic ENSG00000241484,ENSG00000248405 NA synonymous SNV ENSG00000241484:ENST00000356099:exon11:c.T897C:p.R299R,ENSG00000241484:ENST00000389774:exon12:c.T990C:p.R330R,ENSG00000248405:ENST00000361473:exon14:c.T1290C:p.R430R,ENSG00000241484:ENST00000389773:exon14:c.T1263C:p.R421R,ENSG00000248405:ENST00000352766:exon16:c.T1527C:p.R509R,ENSG00000241484:ENST00000517296:exon16:c.T1527C:p.R509R Score=466;Name=lod=104 NA 22q13.31 NA NA NA NA rs61756769 0.11 0.11 0.113 0.123602 0.1431 0.0526 0.0533 0.2269 0.0869 0.14 0.05 0.06 0.17 0.1221 0.22 . . . . . . . . 0.000 P . . . . -0.989 T 0.000 T . -0.546 1.526 -8.28 -1.175 -1.137 0.973 -0.545531 NA NA 0.12814 0.223332 NA 0.13 NA 10.2733266 625 7 156469133 156469133 C G exonic RNF32 NA nonsynonymous SNV RNF32:NM_001184996:exon9:c.C873G:p.H291Q,RNF32:NM_001184997:exon9:c.C873G:p.H291Q,RNF32:NM_030936:exon9:c.C873G:p.H291Q exonic ENSG00000105982 NA nonsynonymous SNV ENSG00000105982:ENST00000343665:exon7:c.C801G:p.H267Q,ENSG00000105982:ENST00000317955:exon9:c.C873G:p.H291Q,ENSG00000105982:ENST00000392743:exon9:c.C873G:p.H291Q,ENSG00000105982:ENST00000432459:exon9:c.C873G:p.H291Q,ENSG00000105982:ENST00000405335:exon10:c.C873G:p.H291Q NA NA 7q36.3 NA Name=Pol2 NA NA rs2302147 0.42 0.42 0.43 0.401158 0.3479 0.4097 0.4121 0.5303 0.2648 0.37 0.41 0.37 0.53 0.3681 0.53 0.31 T 0.033 B 0.006 B 0.329 N 0.000 P -0.6 N 1.02 T -0.961 T 0.000 T 0.041 0.866 8.51 -3.84 -0.967 -1.452 12.477 0.866371 NA 0.36 0.345349 0.488652 NA 0.022 NA 10.2719844 625 7 116528240 116528240 C T exonic CAPZA2 NA synonymous SNV CAPZA2:NM_006136:exon2:c.C99T:p.F33F exonic ENSG00000198898 NA nonsynonymous SNV ENSG00000198898:ENST00000464223:exon2:c.C32T:p.S11L,ENSG00000198898:ENST00000484325:exon3:c.C32T:p.S11L Score=599;Name=lod=361 NA 7q31.2 NA NA NA NA rs4808 0.31 0.31 0.309 0.323482 0.2346 0.3948 0.3098 0.3888 0.2628 0.24 0.37 0.29 0.38 0.2645 0.38 0 D . . . . . . 0.000 P . . . . -1.004 T 0.000 T . 1.763 11.85 3.5 0.143 1.798 9.172 1.762539 1.762539 0.04 0.229525 0.372674 NA 0.362 NA 10.271375 625 4 2990499 2990499 G T exonic GRK4 NA nonsynonymous SNV GRK4:NM_001004056:exon2:c.G98T:p.R33L,GRK4:NM_001004057:exon3:c.G194T:p.R65L,GRK4:NM_182982:exon3:c.G194T:p.R65L exonic ENSG00000125388 NA nonsynonymous SNV ENSG00000125388:ENST00000345167:exon2:c.G98T:p.R33L,ENSG00000125388:ENST00000398051:exon2:c.G98T:p.R33L,ENSG00000125388:ENST00000398052:exon3:c.G194T:p.R65L,ENSG00000125388:ENST00000504933:exon3:c.G194T:p.R65L Score=479;Name=lod=118 NA 4p16.3 NA NA Name=3 NA rs2960306 0.34 0.34 0.338 0.3125 0.3777 0.0942 0.3285 0.5371 0.1554 0.38 0.1 0.34 0.54 0.3256 0.54 0.53 T 0.0 B 0.001 B 0.000 N 0.000 P -2.085 N 4.57 T -1.046 T 0.000 T 0.052 1.493 10.94 5.56 0.934 3.228 11.195 1.492816 1.492816 0.55 0.358837 0.491829 NA 0.254 NA 10.2711964 625 21 43547873 43547873 G A exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001199527:exon19:c.G3790A:p.D1264N,UMODL1:NM_173568:exon19:c.G4006A:p.D1336N,UMODL1:NM_001004416:exon20:c.G3622A:p.D1208N,UMODL1:NM_001199528:exon20:c.G3406A:p.D1136N exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400427:exon19:c.G3790A:p.D1264N,ENSG00000177398:ENST00000408989:exon19:c.G4006A:p.D1336N,ENSG00000177398:ENST00000400424:exon20:c.G3406A:p.D1136N,ENSG00000177398:ENST00000408910:exon20:c.G3622A:p.D1208N Score=425;Name=lod=71 NA 21q22.3 Score=853;Name=V$ZID_01 NA NA NA rs220159 0.37 0.37 0.352 0.357827 0.3499 0.369 0.4236 0.3253 0.3517 0.35 0.38 0.43 0.33 0.3655 0.43 . . 0.001 B 0.003 B 0.000 N 1.000 P -1.845 N -1.54 D -0.977 T 0.000 T 0.015 -1.856 0.009 2.42 0.263 0.913 6.734 -1.855586 NA 1 0.351723 0.307274 ID=COSM1414247,COSM1414248;OCCURENCE=1(large_intestine) 0.326 NA 10.2662104 625 11 68855363 68855363 G A exonic TPCN2 NA nonsynonymous SNV TPCN2:NM_139075:exon25:c.G2201A:p.G734E exonic ENSG00000162341 NA nonsynonymous SNV ENSG00000162341:ENST00000542467:exon18:c.G1655A:p.G552E,ENSG00000162341:ENST00000294309:exon25:c.G2201A:p.G734E NA NA 11q13.3 NA NA NA NA rs3829241 0.24 0.24 0.199 0.176318 0.3817 0.2063 0.2205 0.0386 0.089 0.36 0.21 0.27 0.05 0.3025 0.38 1 T 0.001 B 0.001 B 0.229 N 1.000 P 0 N -4.07 D -0.966 T 0.000 T 0.102 -2.162 0.005 -3.6 -0.426 1.094 3.602 -2.162036 NA 0.79 0.383326 0.105909 NA 0.181 CLINSIG=pathogenic;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_10;CLNREVSTAT=single;CLNACC=RCV000000764.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677088:612267 10.2658074 625 1 6693097 6693097 A G exonic THAP3 NA nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R exonic ENSG00000041988 NA nonsynonymous SNV ENSG00000041988:ENST00000307896:exon5:c.A677G:p.Q226R,ENSG00000041988:ENST00000054650:exon6:c.A680G:p.Q227R NA NA 1p36.31 NA NA NA NA rs3174820 0.33 0.33 0.291 0.370407 0.332 0.3889 0.3429 0.3086 0.4939 0.33 0.38 0.32 0.28 0.3911 0.4 0.83 T 0.0 B 0.0 B 0.000 N 1.000 P -0.695 N -3.4 D -0.934 T 0.000 T 0.022 -1.511 0.017 -7.5 -3.278 -2.490 1.286 -1.510745 NA 0.07 0.34455 0.306857 NA 0.377 NA 10.2656834 625 20 31805464 31805464 C A exonic BPIFA3 NA nonsynonymous SNV BPIFA3:NM_001042439:exon1:c.C122A:p.A41E,BPIFA3:NM_178466:exon1:c.C122A:p.A41E exonic ENSG00000131059 NA nonsynonymous SNV ENSG00000131059:ENST00000375452:exon1:c.C122A:p.A41E,ENSG00000131059:ENST00000375454:exon1:c.C122A:p.A41E Score=363;Name=lod=40 NA 20q11.21 NA NA NA NA rs17124391 0.01 0.01 0.011 0.0081869 0.0239 0.001 0.0115 0.0008 0.0072 0.03 NA 0.02 NA 0.0173 0.03 0.09 T 0.999 D 0.956 D 0.010 N 0.763 N 0.975 L 1.8 T -1.069 T 0.035 T 0.129 2.336 13.77 0.96 0.222 0.403 5.935 2.336467 2.336467 0 0.02686 0.004539 NA 0.014 NA 10.2652734 625 5 115177207 115177207 T C exonic ATG12 NA nonsynonymous SNV ATG12:NM_001277783:exon1:c.A43G:p.I15V,ATG12:NM_004707:exon1:c.A43G:p.I15V exonic ENSG00000145782 NA nonsynonymous SNV ENSG00000145782:ENST00000274459:exon1:c.A184G:p.I62V,ENSG00000145782:ENST00000379594:exon1:c.A43G:p.I15V,ENSG00000145782:ENST00000500945:exon1:c.A43G:p.I15V,ENSG00000145782:ENST00000509910:exon1:c.A43G:p.I15V,ENSG00000145782:ENST00000513322:exon1:c.A43G:p.I15V NA NA 5q22.3 NA Name=Pol2,NRSF,SP1,Mxi1_(bHLH),PU.1,YY1,Ini1,Pol2(phosphoS2),Egr-1,Sin3Ak-20,YY1_(C-20),HA-E2F1,TAF7_(SQ-8),ZNF263,Pol2-4H8,USF1_(SC-8983),E2F6,Pol2(b),TAF1,ETS1,EBF,WHIP,ELK4,POU2F2,GABP,EBF1_(C-8),TCF12,USF-1,BHLHE40,TBP,GTF2F1_(RAP-74),Max,SUZ12,c-Myc,ELF1_(SC-631),NFKB,HEY1,SETDB1,Oct-2 Name=148 NA rs74844425 0.01 0.01 0.014 0.013778 0.0258 0.002 0.0159 0.0061 0.0225 0.02 0.0035 0.02 0.01 0.0165 0.033 0.34 T 0.0 B 0.0 B 0.107 N 0.990 N 0 N . . -1.048 T 0.020 T 0.094 1.519 11.03 -4.3 -0.369 -0.491 9.182 1.518606 1.518606 0.44 0.025814 0.009764 NA 0.022 NA 10.2652194 626 3 46945000 46945000 G A exonic PTH1R NA nonsynonymous SNV PTH1R:NM_001184744:exon15:c.G1636A:p.E546K,PTH1R:NM_000316:exon16:c.G1636A:p.E546K exonic ENSG00000160801 NA nonsynonymous SNV ENSG00000160801:ENST00000422115:exon4:c.G403A:p.E135K,ENSG00000160801:ENST00000313049:exon14:c.G1636A:p.E546K,ENSG00000160801:ENST00000430002:exon15:c.G1636A:p.E546K,ENSG00000160801:ENST00000418619:exon16:c.G1636A:p.E546K,ENSG00000160801:ENST00000449590:exon16:c.G1636A:p.E546K Score=369;Name=lod=42 NA 3p21.31 NA NA NA NA rs77048718 0.01 0.01 0.013 0.00858626 0.0278 NA 0.013 0.0015 0.0041 0.03 NA 0.01 0.002 0.0166 0.03 0.85 T 0.07 B 0.016 B . . 0.984 N 1.04 L 0.67 T -0.990 T 0.087 T 0.075 1.742 11.78 1.79 1.319 1.840 3.723 1.741593 1.741593 0 0.025465 0.004085 NA 0.007 NA 10.2634684 626 2 218695102 218695102 G A exonic TNS1 NA nonsynonymous SNV TNS1:NM_022648:exon21:c.C3010T:p.R1004W exonic ENSG00000079308 NA nonsynonymous SNV ENSG00000079308:ENST00000419504:exon20:c.C3010T:p.R1004W,ENSG00000079308:ENST00000171887:exon21:c.C3010T:p.R1004W Score=399;Name=lod=56 NA 2q35 Score=819;Name=V$RFX1_01 NA NA NA rs3796028 0.39 0.39 0.385 0.375399 0.3648 0.4276 0.4308 0.32 0.3681 0.35 0.45 0.4 0.36 0.363 0.45 0.04 D 0.0 B 0.0 B 0.000 N 0.000 P 0 N -2.83 D -0.982 T 0.000 T 0.181 -0.1 3.509 -1.23 -0.055 -0.422 4.230 -0.100132 NA 0.02 0.342558 0.312074 NA 0.37 NA 10.2629754 626 19 37488197 37488197 G A exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204839:exon9:c.G1412A:p.C471Y,ZNF568:NM_001204838:exon10:c.G1604A:p.C535Y exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000455427:exon9:c.G1412A:p.C471Y,ENSG00000198453:ENST00000444991:exon10:c.G1604A:p.C535Y Score=425;Name=lod=71 NA 19q13.12 Score=893;Name=V$NKX3A_01 Name=ZNF274 NA NA rs1345748 0.47 0.47 0.468 0.496605 0.5109 0.25 0.5346 0.6006 0.5685 0.52 0.26 0.52 0.61 0.5638 0.61 1 T 0.0 B 0.0 B . . 0.000 P -2.3 N 2.72 T -0.945 T 0.000 T 0.092 -1.145 0.106 3.79 0.628 . 3.457 -1.145078 NA 1 NA NA NA 0.493 NA 10.2586334 626 17 79169670 79169670 C T exonic AZI1 NA nonsynonymous SNV AZI1:NM_001009811:exon16:c.G1981A:p.E661K,AZI1:NM_014984:exon16:c.G1981A:p.E661K exonic ENSG00000141577 NA nonsynonymous SNV ENSG00000141577:ENST00000573053:exon3:c.G298A:p.E100K,ENSG00000141577:ENST00000269392:exon16:c.G1990A:p.E664K,ENSG00000141577:ENST00000374782:exon16:c.G1981A:p.E661K,ENSG00000141577:ENST00000450824:exon16:c.G1981A:p.E661K,ENSG00000141577:ENST00000575907:exon16:c.G1990A:p.E664K NA NA 17q25.3 NA NA NA NA rs61741549 0.01 0.01 0.007 0.0175719 0.0278 0.002 0.0086 0.0015 0.0511 0.03 NA 0.01 NA 0.0234 0.03 0.96 T 0.195 B 0.043 B 0.098 N 1.000 N 0.605 N 2.63 T -0.959 T 0.005 T 0.129 0.351 5.905 3.05 2.120 2.235 2.791 0.351152 NA 0.74 0.024651 0.003406 NA 0.007 NA 10.2574824 626 19 1068738 1068738 G A exonic HMHA1 NA nonsynonymous SNV HMHA1:NM_001258328:exon2:c.G464A:p.R155H,HMHA1:NM_012292:exon2:c.G416A:p.R139H exonic ENSG00000180448 NA nonsynonymous SNV ENSG00000180448:ENST00000313093:exon2:c.G416A:p.R139H,ENSG00000180448:ENST00000539243:exon2:c.G464A:p.R155H,ENSG00000180448:ENST00000586866:exon2:c.G428A:p.R143H,ENSG00000180448:ENST00000587186:exon2:c.G431A:p.R144H,ENSG00000180448:ENST00000590214:exon2:c.G497A:p.R166H NA NA 19p13.3 NA NA Name=8 NA rs1801284 0.4 0.4 0.388 0.404752 0.3449 0.3611 0.3862 0.5265 0.3599 0.36 0.4 0.38 0.48 0.3823 0.51 0.15 T 0.008 B 0.002 B 0.854 N 1.000 P 0.895 L 2.01 T -0.946 T 0.000 T 0.051 -0.171 3.168 -8.44 -4.781 -1.052 16.357 -0.17062 NA 0.22 0.35071 0.509558 NA 0.319 NA 10.2554234 627 19 9060915 9060915 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G26531A:p.R8844H exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G26531A:p.R8844H NA NA 19p13.2 NA NA NA NA rs59168469 0.03 0.03 0.016 0.0393371 0.0189 0.0109 0.1182 0.0098 0.0736 0.02 0.01 0.1 0.0041 0.0389 0.1 0 D 0.0 B 0.0 B . . . . 0 N 1.99 T -0.995 T 0.001 T 0.076 1.957 12.5 -3.49 -1.368 -0.245 0.807 1.957132 1.957132 0.1 0.021017 0.008354 NA 0.022 NA 10.2545164 627 11 7059981 7059981 G A exonic NLRP14 NA nonsynonymous SNV NLRP14:NM_176822:exon2:c.G164A:p.R55Q exonic ENSG00000158077 NA nonsynonymous SNV ENSG00000158077:ENST00000299481:exon2:c.G164A:p.R55Q NA NA 11p15.4 NA NA NA NA rs61063081 0.11 0.11 0.109 0.096246 0.2147 0.0179 0.1297 0.0666 0.0716 0.21 0.02 0.13 0.05 0.15 0.21 0.46 T 0.999 D 0.898 P 0.238 N 1.000 P 2.415 M 0.6 T -1.037 T 0.000 T 0.127 2.554 14.5 2.23 0.659 0.751 10.422 2.554234 2.554234 0.27 0.214153 0.084053 NA 0.13 NA 10.2544804 627 4 57176832 57176832 T C exonic KIAA1211 NA nonsynonymous SNV KIAA1211:NM_020722:exon6:c.T286C:p.S96P exonic ENSG00000109265 NA nonsynonymous SNV ENSG00000109265:ENST00000504228:exon4:c.T286C:p.S96P,ENSG00000109265:ENST00000541073:exon5:c.T265C:p.S89P,ENSG00000109265:ENST00000264229:exon6:c.T286C:p.S96P Score=343;Name=lod=33 NA 4q12 NA Name=GR NA NA rs79868722 0.07 0.07 0.06 0.0644968 0.0169 0.1875 0.0259 0.0038 0.0961 0.02 0.21 0.04 0.01 0.0428 0.21 . . 0.008 B 0.009 B . . 0.294 P 0.95 L 2.58 T -0.924 T 0.000 T 0.101 1.13 9.606 -2.32 -0.560 -0.371 6.228 1.129904 NA 0.27 0.019579 0.005227 NA 0.036 NA 10.2540544 627 17 46629593 46629593 G T exonic HOXB3 NA nonsynonymous SNV HOXB3:NM_002146:exon3:c.C244A:p.P82T exonic ENSG00000120093 NA nonsynonymous SNV ENSG00000120093:ENST00000470495:exon1:c.C244A:p.P82T,ENSG00000120093:ENST00000476342:exon2:c.C244A:p.P82T,ENSG00000120093:ENST00000311626:exon3:c.C244A:p.P82T,ENSG00000120093:ENST00000471459:exon3:c.C25A:p.P9T,ENSG00000120093:ENST00000472863:exon3:c.C25A:p.P9T,ENSG00000120093:ENST00000489475:exon4:c.C25A:p.P9T,ENSG00000120093:ENST00000498678:exon4:c.C244A:p.P82T Score=522;Name=lod=176 NA 17q21.32 NA NA Name=3 NA rs2229304 0.66 0.66 0.636 0.603435 0.7068 0.7976 0.6599 0.3563 0.591 0.71 0.83 0.67 0.37 0.6686 0.83 0.63 T 0.072 B 0.021 B 0.327 U 0.000 P 0.55 N 1.53 T -0.964 T 0.000 T 0.091 0.005 4.042 3.96 2.203 3.016 16.135 0.005447 NA NA 0.704329 0.432303 NA 0.58 NA 10.2536044 627 2 37494591 37494591 A G exonic PRKD3 NA synonymous SNV PRKD3:NM_005813:exon13:c.T1866C:p.N622N exonic ENSG00000115825 NA synonymous SNV ENSG00000115825:ENST00000443977:exon5:c.T471C:p.N157N,ENSG00000115825:ENST00000234179:exon13:c.T1866C:p.N622N,ENSG00000115825:ENST00000379066:exon14:c.T1866C:p.N622N Score=618;Name=lod=435 NA 2p22.2 Score=797;Name=V$XBP1_01 NA NA NA rs2302650 0.15 0.15 0.135 0.191294 0.1362 0.2292 0.1902 0.1074 0.3231 0.12 0.23 0.16 0.08 0.1544 0.23 . . . . . . . . 0.000 P . . . . -1.084 T 0.000 T . 0.79 8.165 3.5 0.707 2.234 10.703 0.790357 NA NA 0.124535 0.113079 NA 0.246 NA 10.2515316 627 7 82581859 82581859 C T exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon5:c.G8410A:p.A2804T,PCLO:NM_033026:exon5:c.G8410A:p.A2804T exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon5:c.G8410A:p.A2804T,ENSG00000186472:ENST00000423517:exon5:c.G8410A:p.A2804T NA NA 7q21.11 NA NA NA NA rs976714 0.33 0.33 0.305 0.320088 0.3608 0.4405 0.389 0.1029 0.3988 0.37 0.44 0.37 0.09 0.3614 0.44 0 D 0.001 B 0.001 B . . 1.000 P -0.69 N 2.32 T -0.905 T 0.000 T 0.014 0.463 6.515 -5.02 -0.998 -1.275 1.692 0.463151 NA 0.91 0.360401 0.137939 NA 0.268 NA 10.2507324 627 11 124947396 124947396 A G exonic SLC37A2 NA nonsynonymous SNV SLC37A2:NM_001145290:exon4:c.A286G:p.I96V,SLC37A2:NM_198277:exon4:c.A286G:p.I96V exonic ENSG00000134955 NA nonsynonymous SNV ENSG00000134955:ENST00000298280:exon4:c.A286G:p.I96V,ENSG00000134955:ENST00000308074:exon4:c.A286G:p.I96V,ENSG00000134955:ENST00000403796:exon4:c.A286G:p.I96V,ENSG00000134955:ENST00000407458:exon4:c.A286G:p.I96V,ENSG00000134955:ENST00000532000:exon4:c.A175G:p.I59V Score=517;Name=lod=169 NA 11q24.2 NA NA NA NA rs55752830 0.34 0.34 0.337 0.377196 0.3757 0.1468 0.3689 0.5348 0.409 0.37 0.14 0.39 0.5 0.3542 0.5 0.83 T 0.0 B 0.001 B 0.000 N 1.000 P -1.445 N 0.41 T -0.944 T 0.000 T 0.032 -1.091 0.151 3.56 1.128 2.952 10.899 -1.091165 NA 0.85 0.352873 0.485461 NA 0.478 NA 10.2505604 627 11 6891605 6891605 A G exonic OR10A2 NA nonsynonymous SNV OR10A2:NM_001004460:exon1:c.A620G:p.H207R exonic ENSG00000170790 NA nonsynonymous SNV ENSG00000170790:ENST00000307322:exon1:c.A620G:p.H207R NA NA 11p15.4 Score=711;Name=V$HOX13_01 NA NA NA rs10839631 0.29 0.29 0.267 0.324481 0.3569 0.3135 0.3732 0.2073 0.4264 0.34 0.3 0.35 0.18 0.3532 0.37 1 T 0.0 B 0.002 B 0.024 N 1.000 P -0.145 N 8.78 T -0.975 T 0.000 T 0.015 -3.295 0.001 -2.84 -1.081 -2.861 4.346 -3.294832 NA 1 0.372905 0.201045 NA 0.246 NA 10.2503284 627 14 20874411 20874411 T C exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon3:c.A716G:p.H239R exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000262715:exon3:c.A716G:p.H239R,ENSG00000129566:ENST00000555727:exon3:c.A716G:p.H239R,ENSG00000129566:ENST00000556935:exon3:c.A716G:p.H239R Score=265;Name=lod=16 NA 14q11.2 NA NA NA NA rs61734876 0.01 0.01 0.011 0.0129792 0.0298 NA 0.0202 0.0023 0.0184 0.03 NA 0.02 NA 0.0245 0.033 0.41 T 0.0 B 0.0 B 0.375 N 1.000 D -0.69 N 2.69 T -0.952 T 0.005 T 0.088 -0.295 2.593 2.68 0.491 0.143 6.839 -0.294686 NA 0.46 0.033256 0.008398 ID=COSM328328;OCCURENCE=1(pancreas) NA NA 10.2457774 628 19 49407660 49407660 G A exonic NUCB1 NA synonymous SNV NUCB1:NM_006184:exon3:c.G192A:p.T64T exonic ENSG00000104805 NA synonymous SNV ENSG00000104805:ENST00000263273:exon2:c.G192A:p.T64T,ENSG00000104805:ENST00000451312:exon2:c.G192A:p.T64T,ENSG00000104805:ENST00000405315:exon3:c.G192A:p.T64T,ENSG00000104805:ENST00000407032:exon3:c.G192A:p.T64T,ENSG00000104805:ENST00000411700:exon3:c.G192A:p.T64T,ENSG00000104805:ENST00000452087:exon3:c.G192A:p.T64T Score=539;Name=lod=206 NA 19q13.33 NA NA NA NA rs1058483 0.06 0.06 0.065 0.0547125 0.1441 0.001 0.062 0.0076 0.0767 0.14 0.0017 0.07 0.01 0.1106 0.17 . . . . . . . . 0.000 P . . . . -1.060 T 0.000 T . -0.919 0.4 -8.54 -1.883 -6.299 8.591 -0.918842 NA NA 0.167674 0.03064 NA 0.123 NA 10.2442926 628 1 110466466 110466466 T C exonic CSF1 NA nonsynonymous SNV CSF1:NM_000757:exon6:c.T1223C:p.L408P,CSF1:NM_172212:exon6:c.T1223C:p.L408P exonic ENSG00000184371 NA nonsynonymous SNV ENSG00000184371:ENST00000329608:exon6:c.T1223C:p.L408P,ENSG00000184371:ENST00000369802:exon6:c.T1223C:p.L408P NA NA 1p13.3 NA Name=CTCF NA NA rs1058885 0.43 0.43 0.42 0.421526 0.336 0.5972 0.3271 0.4554 0.3497 0.34 0.61 0.35 0.41 0.3815 0.61 0.33 T 0.002 B 0.007 B 0.584 N 1.000 P -0.205 N 2.45 T -0.974 T 0.004 T 0.017 0.858 8.471 -9.14 -2.705 -1.105 3.933 0.857555 NA 0.08 0.372558 0.440309 NA 0.355 NA 10.2432754 628 1 226074563 226074563 T G exonic LEFTY1 NA nonsynonymous SNV LEFTY1:NM_020997:exon4:c.A965C:p.D322A exonic ENSG00000243709 NA nonsynonymous SNV ENSG00000243709:ENST00000272134:exon4:c.A965C:p.D322A Score=358;Name=lod=38 NA 1q42.12 NA NA Name=2 NA rs360057 0.29 0.29 0.265 0.254792 0.3946 0.2073 0.3415 0.1407 0.2526 0.41 0.21 0.36 0.15 0.3359 0.41 0.41 T 0.0 B 0.0 B 0.016 N 1.000 P -1.385 N -0.47 T -0.965 T 0.000 T 0.093 -1.72 0.011 2.09 0.753 5.788 9.653 -1.720453 NA 0.77 0.360116 0.185429 ID=COSM1339274;OCCURENCE=1(large_intestine) 0.319 NA 10.2427174 628 11 5862845 5862845 A G exonic OR52E6 NA nonsynonymous SNV OR52E6:NM_001005167:exon1:c.T283C:p.S95P exonic ENSG00000205409 NA nonsynonymous SNV ENSG00000205409:ENST00000329322:exon1:c.T283C:p.S95P,ENSG00000205409:ENST00000379946:exon2:c.T295C:p.S99P NA NA 11p15.4 NA NA NA NA rs4592451 0.4 0.4 0.403 0.383986 0.3728 0.4593 0.3184 0.3782 0.3722 0.39 0.46 0.33 0.41 0.3694 0.46 0.06 T 0.904 P 0.616 P 0.086 N 1.000 P 2.24 M 1.0 T -1.007 T 0.000 T 0.309 2.484 14.27 -4.43 -0.345 -4.844 5.397 2.483961 2.483961 0.03 0.350209 0.367787 NA 0.406 NA 10.2409244 628 2 210905194 210905194 T C exonic KANSL1L NA nonsynonymous SNV KANSL1L:NM_152519:exon8:c.A1979G:p.N660S exonic ENSG00000144445 NA nonsynonymous SNV ENSG00000144445:ENST00000281772:exon8:c.A1979G:p.N660S,ENSG00000144445:ENST00000418791:exon8:c.A1979G:p.N660S,ENSG00000144445:ENST00000452086:exon8:c.A1979G:p.N660S,ENSG00000144445:ENST00000457374:exon8:c.A1979G:p.N660S Score=488;Name=lod=128 NA 2q34 NA NA NA NA rs78815845 0.01 0.01 0.011 0.00938498 0.0278 NA 0.013 0.0008 0.0092 0.03 NA 0.01 NA 0.0282 0.039 0.64 T 0.178 B 0.03 B 0.178 N 0.995 N 0.345 N . . -1.035 T 0.011 T 0.001 1.441 10.76 3.88 0.784 4.292 7.491 1.44062 1.44062 0.15 0.038623 0.007266 NA 0.072 NA 10.2387104 628 3 148757864 148757864 C T exonic HLTF NA nonsynonymous SNV HLTF:NM_003071:exon21:c.G2456A:p.R819H,HLTF:NM_139048:exon21:c.G2456A:p.R819H exonic ENSG00000071794 NA nonsynonymous SNV ENSG00000071794:ENST00000467858:exon7:c.G860A:p.R287H,ENSG00000071794:ENST00000310053:exon21:c.G2456A:p.R819H,ENSG00000071794:ENST00000392912:exon21:c.G2456A:p.R819H,ENSG00000071794:ENST00000465259:exon21:c.G2453A:p.R818H,ENSG00000071794:ENST00000494055:exon21:c.G2456A:p.R819H NA NA 3q24 Score=909;Name=V$USF_02 NA Name=2 NA rs2229361 0.02 0.02 0.01 0.0199681 0.0278 0.001 0.0231 0.0008 0.0552 0.03 0.0017 0.03 NA 0.0307 0.037 0.3 T 0.275 B 0.077 B . . 1.000 N 0.345 N -2.36 D -0.852 T 0.149 T 0.209 0.247 5.332 1.5 0.296 0.927 8.984 0.246511 NA 0.13 0.036761 0.008398 NA 0.029 NA 10.2380724 628 6 32609173 32609173 C G exonic HLA-DQA1 NA nonsynonymous SNV HLA-DQA1:NM_002122:exon2:c.C169G:p.Q57E exonic ENSG00000196735 NA nonsynonymous SNV ENSG00000196735:ENST00000343139:exon2:c.C169G:p.Q57E,ENSG00000196735:ENST00000374949:exon2:c.C169G:p.Q57E,ENSG00000196735:ENST00000395363:exon2:c.C169G:p.Q57E,ENSG00000196735:ENST00000496318:exon2:c.C169G:p.Q57E NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs10093 0.4 0.4 0.195 0.403355 0.4483 0.4216 0.4827 0.2958 0.4274 0.44 0.41 0.44 0.28 0.3552 0.44 0.4 T 0.007 B 0.027 B 0.206 N 1.000 P 0.08 N 5.83 T -1.036 T 0.011 T 0.588 -2.454 0.003 -7.66 -5.868 -5.842 8.879 -2.453699 NA 0.21 0.292164 0.226488 NA 0.275 NA 10.2376694 628 11 6648424 6648424 G A exonic DCHS1 NA nonsynonymous SNV DCHS1:NM_003737:exon14:c.C5846T:p.T1949M exonic ENSG00000166341 NA nonsynonymous SNV ENSG00000166341:ENST00000299441:exon14:c.C5846T:p.T1949M NA NA 11p15.4 Score=848;Name=V$COMP1_01 NA NA NA rs4758443 0.33 0.33 0.315 0.297524 0.3728 0.4236 0.3372 0.1233 0.2975 0.38 0.44 0.34 0.12 0.3559 0.44 0.15 T 0.023 B 0.01 B 0.000 D 1.000 P 2.3 M 4.61 T -0.948 T 0.000 T 0.068 -0.855 0.539 2.32 0.359 0.935 5.963 -0.85454 NA 0.23 0.367784 0.172194 ID=COSM1356235;OCCURENCE=1(large_intestine) 0.399 NA 10.2368494 628 3 182755209 182755209 T G exonic MCCC1 NA nonsynonymous SNV MCCC1:NM_020166:exon13:c.A1391C:p.H464P exonic ENSG00000078070 NA nonsynonymous SNV ENSG00000078070:ENST00000539926:exon11:c.A986C:p.H329P,ENSG00000078070:ENST00000476176:exon12:c.A1250C:p.H417P,ENSG00000078070:ENST00000492597:exon12:c.A1064C:p.H355P,ENSG00000078070:ENST00000265594:exon13:c.A1391C:p.H464P Score=431;Name=lod=75 NA 3q27.1 NA NA NA NA rs2270968 0.48 0.48 0.437 0.464856 0.7346 0.3323 0.6297 0.1929 0.5746 0.72 0.32 0.58 0.22 0.6248 0.74 0.3 T 0.001 B 0.004 B 0.000 D 0.887 P -1.925 N -1.43 T -0.918 T 0.000 T 0.413 1.051 9.294 3.51 0.474 1.118 8.309 1.051243 NA 0.4 0.737093 0.287562 NA 0.406 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081992.1;CLNDSDB=.;CLNDSDBID=. 10.2368404 629 9 139272045 139272045 C A exonic SNAPC4 NA nonsynonymous SNV SNAPC4:NM_003086:exon21:c.G4234T:p.A1412S exonic ENSG00000165684 NA nonsynonymous SNV ENSG00000165684:ENST00000298532:exon21:c.G4234T:p.A1412S NA NA 9q34.3 NA NA NA NA rs79283598 0.02 0.02 0.02 0.0135783 0.0477 0.001 0.0187 0.0023 0.0031 0.05 0.0017 0.02 0.0041 0.0235 0.05 0.16 T 0.0 B 0.0 B 0.000 N 1.000 N 0.205 N 2.02 T -1.052 T 0.004 T 0.011 -0.757 0.796 -7.47 -3.382 -2.362 1.689 -0.757231 NA 0.35 0.031781 0.005901 NA 0.094 NA 10.2303524 629 5 140186937 140186937 G T exonic PCDHA4 NA nonsynonymous SNV PCDHA4:NM_018907:exon1:c.G165T:p.E55D,PCDHA4:NM_031500:exon1:c.G165T:p.E55D exonic ENSG00000204967 NA nonsynonymous SNV ENSG00000204967:ENST00000356878:exon1:c.G165T:p.E55D,ENSG00000204967:ENST00000512229:exon1:c.G165T:p.E55D,ENSG00000204967:ENST00000530339:exon1:c.G165T:p.E55D Score=603;Name=lod=378 NA 5q31.3 Score=825;Name=V$AP4_01 NA NA NA rs11167605 0.32 0.32 0.243 0.331869 0.3738 0.5139 0.415 0.0151 0.4703 0.35 0.52 0.36 0.02 0.3667 0.52 0.16 T 0.011 B 0.028 B 0.001 U 0.000 P 0.765 N 1.65 T -0.929 T 0.000 T 0.03 1.06 9.328 4.73 2.369 0.274 7.801 1.059892 NA 0.22 0.364038 0.076975 NA 0.29 NA 10.2287954 629 15 66612965 66612965 T C exonic DIS3L NA synonymous SNV DIS3L:NM_001143688:exon9:c.T1221C:p.N407N,DIS3L:NM_133375:exon9:c.T972C:p.N324N exonic ENSG00000166938 NA nonsynonymous SNV ENSG00000166938:ENST00000441424:exon8:c.T649C:p.W217R Score=468;Name=lod=106 NA 15q22.31 Score=835;Name=V$GRE_C NA NA NA rs17851970 0.17 0.17 0.14 0.187899 0.2614 0.1855 0.1686 0.0393 0.3292 0.26 0.13 0.22 0.03 0.2421 0.27 0.07 T . . . . . . 0.000 P . . 0.58 T -1.011 T 0.000 T . 2.594 14.64 -4.54 -0.986 0.232 8.864 2.594292 2.594292 0 0.268435 0.080191 NA 0.21 NA 10.228065 629 9 95993326 95993326 T C exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon3:c.T1011C:p.S337S exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000297954:exon3:c.T1011C:p.S337S,ENSG00000165238:ENST00000395475:exon3:c.T969C:p.S323S,ENSG00000165238:ENST00000395477:exon3:c.T1011C:p.S337S,ENSG00000165238:ENST00000448039:exon3:c.T1011C:p.S337S Score=452;Name=lod=92 NA 9q22.31 NA NA NA NA rs11787888 0.11 0.11 0.098 0.148562 0.1541 0.0843 0.111 0.0983 0.3037 0.16 0.07 0.12 0.1 0.149 0.16 . . . . . . . . 0.000 P . . . . -1.032 T 0.000 T . 1.385 10.56 -6.68 -1.726 -1.965 3.288 1.385337 1.385337 NA 0.137326 0.105992 NA 0.152 NA 10.2262406 630 3 195452951 195452951 G C exonic MUC20 NA nonsynonymous SNV MUC20:NM_001098516:exon2:c.G859C:p.D287H,MUC20:NM_152673:exon3:c.G964C:p.D322H exonic ENSG00000176945 NA nonsynonymous SNV ENSG00000176945:ENST00000445522:exon1:c.G1372C:p.D458H,ENSG00000176945:ENST00000436408:exon2:c.G1477C:p.D493H,ENSG00000176945:ENST00000447234:exon2:c.G1477C:p.D493H,ENSG00000176945:ENST00000320736:exon3:c.G964C:p.D322H NA NA 3q29 Score=761;Name=V$PAX5_02 NA NA NA rs2688542 0.62 0.62 0.6 NA NA NA NA NA NA 0.61 0.79 0.56 0.47 0.6086 0.79 0.2 T 0.969 D 0.642 P 0.291 N 1.000 P 0.895 L 2.67 T -0.952 T 0.000 T 0.177 0.909 8.698 2.12 0.428 0.431 5.828 0.909135 NA 0.18 NA NA ID=COSM446212;OCCURENCE=1(breast) 0.145 NA 10.2247334 630 17 41244936 41244936 G A exonic BRCA1 NA nonsynonymous SNV BRCA1:NM_007297:exon9:c.C2471T:p.P824L,BRCA1:NM_007294:exon10:c.C2612T:p.P871L,BRCA1:NM_007300:exon10:c.C2612T:p.P871L exonic ENSG00000012048 NA nonsynonymous SNV ENSG00000012048:ENST00000309486:exon9:c.C1724T:p.P575L,ENSG00000012048:ENST00000493795:exon9:c.C2471T:p.P824L,ENSG00000012048:ENST00000346315:exon10:c.C2612T:p.P871L,ENSG00000012048:ENST00000354071:exon10:c.C2612T:p.P871L,ENSG00000012048:ENST00000357654:exon10:c.C2612T:p.P871L,ENSG00000012048:ENST00000471181:exon10:c.C2612T:p.P871L Score=399;Name=lod=56 NA 17q21.31 NA NA Name=52 NA rs799917 0.48 0.48 0.497 0.54393 0.3628 0.371 0.428 0.885 0.5297 0.37 0.33 0.45 0.86 0.41 0.86 1 T 0.0 B 0.0 B 0.001 N 0.000 P -3.395 N -0.05 T -0.937 T 0.000 T 0.255 -0.374 2.24 5.04 0.938 4.246 9.647 -0.374065 NA 1 0.33593 0.800045 ID=COSM148278;OCCURENCE=1(stomach) 0.507 NA 10.2246034 630 5 148680717 148680717 G A exonic AFAP1L1 NA nonsynonymous SNV AFAP1L1:NM_001146337:exon4:c.G251A:p.R84Q,AFAP1L1:NM_152406:exon4:c.G251A:p.R84Q exonic ENSG00000157510 NA nonsynonymous SNV ENSG00000157510:ENST00000296721:exon4:c.G251A:p.R84Q,ENSG00000157510:ENST00000515000:exon4:c.G251A:p.R84Q Score=489;Name=lod=130 NA 5q32 NA NA Name=2 NA rs61734415 0.02 0.02 0.013 0.0091853 0.0338 NA 0.0101 0.0015 0.0031 0.04 NA 0.02 0.0041 0.0308 0.045 0.75 T 0.052 B 0.007 B 0.012 N 0.669 D 1.01 L 1.03 T -1.011 T 0.016 T 0.11 0.79 8.165 0.557 0.162 0.499 10.301 0.790456 NA 0.6 0.044651 0.009759 NA 0.007 NA 10.2240824 630 7 143632984 143632984 G A exonic OR2F2 NA nonsynonymous SNV OR2F2:NM_001004685:exon1:c.G659A:p.R220Q exonic ENSG00000221910 NA nonsynonymous SNV ENSG00000221910:ENST00000408955:exon1:c.G659A:p.R220Q NA NA 7q35 NA NA NA NA rs61740239 0.03 0.03 0.022 0.0297524 0.0408 0.0288 0.0202 0.0234 0.0348 0.04 0.03 0.03 0.02 0.0339 0.04 0.35 T 0.0 B 0.005 B 0.896 N 1.000 N 1.095 L 8.89 T -1.105 T 0.000 T 0.035 -1.247 0.052 -7.02 -1.909 -1.199 8.249 -1.246956 NA 0.37 0.034884 0.028597 NA 0.022 NA 10.2237494 630 15 42148736 42148736 A G exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon53:c.T8869C:p.Y2957H exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon53:c.T8869C:p.Y2957H NA NA 15q15.1 NA NA NA NA rs61733880 0.04 0.04 0.044 0.052516 0.0338 NA 0.0245 0.1165 0.0593 0.03 NA 0.02 0.13 0.0481 0.13 0.82 T 0.0 B 0.0 B 0.062 N 1.000 P -1.845 N 1.39 T -1.051 T 0.000 T 0.042 -0.199 3.035 5.19 1.196 3.505 13.978 -0.198706 NA 0.69 0.028259 0.089923 NA 0.058 NA 10.2231744 630 2 71297695 71297695 T C exonic NAGK NA synonymous SNV NAGK:NM_017567:exon2:c.T231C:p.D77D exonic ENSG00000124357 NA synonymous SNV ENSG00000124357:ENST00000244204:exon2:c.T93C:p.D31D,ENSG00000124357:ENST00000455662:exon2:c.T231C:p.D77D Score=618;Name=lod=432 NA 2p13.3 NA Name=Znf143_(16618-1-AP),SMC3_(ab9263),CTCF_(SC-5916),Rad21,CTCF Name=102 NA rs2287328 0.14 0.14 0.114 0.143371 0.1431 0.1438 0.1729 0.115 0.1605 0.14 0.12 0.18 0.12 0.1476 0.18 . . . . . . . . 0.000 P . . . . -1.008 T 0.000 T . 1.337 10.39 -3.11 -0.245 0.766 6.060 1.337451 1.337451 NA 0.156279 0.141625 NA 0.116 NA 10.2196876 630 7 20768077 20768077 A T exonic ABCB5 NA nonsynonymous SNV ABCB5:NM_178559:exon14:c.A1531T:p.I511L,ABCB5:NM_001163941:exon23:c.A2866T:p.I956L exonic ENSG00000004846 NA nonsynonymous SNV ENSG00000004846:ENST00000441315:exon3:c.A367T:p.I123L,ENSG00000004846:ENST00000258738:exon14:c.A1531T:p.I511L,ENSG00000004846:ENST00000404938:exon23:c.A2866T:p.I956L Score=512;Name=lod=160 NA 7p21.1 Score=831;Name=V$OCT1_02 NA NA NA rs117497357 0.02 0.02 0.017 0.0139776 0.0378 0.001 0.0259 0.0023 0.0102 0.05 0.0017 0.02 0.002 0.0326 0.05 1 T 0.0 B 0.001 B 0.830 N 1.000 N -1.225 N -2.45 D -0.879 T 0.053 T 0.109 -0.689 1.008 -1.13 -0.196 -0.287 5.759 -0.688653 NA 1 0.046163 0.009079 NA 0.007 NA 10.2167704 630 8 11188743 11188743 C T exonic SLC35G5 NA nonsynonymous SNV SLC35G5:NM_054028:exon1:c.C128T:p.A43V exonic ENSG00000177710 NA nonsynonymous SNV ENSG00000177710:ENST00000382435:exon1:c.C128T:p.A43V Score=569;Name=lod=273 NA 8p23.1 NA NA NA NA rs13260331 0.33 0.33 0.251 0.317093 0.3588 0.5833 0.3401 0.0197 0.3855 0.35 0.58 0.33 0.03 0.3688 0.58 0.47 T 0.997 D 0.985 D 0.000 D 0.604 P 0.895 L 1.49 T -0.938 T 0.000 T 0.094 1.639 11.44 0.34 0.426 0.269 2.848 1.638949 1.638949 0.46 0.389535 0.087154 NA 0.065 NA 10.2161984 630 7 76889354 76889354 G C exonic CCDC146 NA nonsynonymous SNV CCDC146:NM_020879:exon8:c.G787C:p.E263Q exonic ENSG00000135205 NA nonsynonymous SNV ENSG00000135205:ENST00000285871:exon8:c.G787C:p.E263Q,ENSG00000135205:ENST00000431197:exon8:c.G25C:p.E9Q NA NA 7q11.23 NA NA NA NA rs17853516 0.08 0.08 0.079 0.0948482 0.0288 0.0595 0.0375 0.202 0.0951 0.03 0.08 0.04 0.18 0.056 0.18 0.61 T 0.051 B 0.027 B 0.085 N 1.000 P 0.345 N 2.44 T -0.998 T 0.000 T 0.027 0.183 4.987 4.56 2.741 1.956 15.559 0.183373 NA 0.2 0.032442 0.174081 NA 0.072 NA 10.2160914 630 11 2424541 2424541 C G exonic TSSC4 NA nonsynonymous SNV TSSC4:NM_005706:exon2:c.C678G:p.H226Q exonic ENSG00000184281 NA nonsynonymous SNV ENSG00000184281:ENST00000451491:exon2:c.C678G:p.H226Q,ENSG00000184281:ENST00000333256:exon3:c.C678G:p.H226Q,ENSG00000184281:ENST00000380996:exon4:c.C486G:p.H162Q,ENSG00000184281:ENST00000440813:exon4:c.C486G:p.H162Q NA NA 11p15.5 NA NA NA NA rs2234279 0.13 0.13 0.149 0.133786 0.0258 0.1151 0.0735 0.3411 0.0266 0.02 0.12 0.08 0.34 0.0617 0.34 0.25 T 0.41 B 0.112 B 0.699 U 0.985 P 0.69 N 2.56 T -1.014 T 0.000 T 0.152 -1.532 0.016 -7.33 -2.708 -1.962 4.793 -1.531603 NA 0.25 0.030123 0.286915 NA 0.101 NA 10.2157104 631 8 77616519 77616519 G C exonic ZFHX4 NA nonsynonymous SNV ZFHX4:NM_024721:exon2:c.G196C:p.V66L exonic ENSG00000091656 NA nonsynonymous SNV ENSG00000091656:ENST00000518282:exon1:c.G196C:p.V66L,ENSG00000091656:ENST00000050961:exon2:c.G196C:p.V66L,ENSG00000091656:ENST00000455469:exon2:c.G196C:p.V66L,ENSG00000091656:ENST00000517585:exon2:c.G196C:p.V66L,ENSG00000091656:ENST00000520307:exon2:c.G196C:p.V66L,ENSG00000091656:ENST00000521891:exon2:c.G196C:p.V66L,ENSG00000091656:ENST00000523885:exon2:c.G196C:p.V66L,ENSG00000091656:ENST00000523809:exon3:c.G196C:p.V66L Score=849;Name=lod=3768 NA 8q21.11 Score=816;Name=V$IRF1_01 NA NA NA rs56261025 0.02 0.02 0.025 0.0139776 0.0487 NA 0.0187 0.0023 0.0051 0.06 NA 0.02 0.0041 0.0316 0.06 0.29 T 0.104 B 0.028 B 0.117 U 0.988 N 0 N 1.57 T -1.052 T 0.003 T 0.16 -0.352 2.338 -2.56 -0.739 0.116 2.474 -0.351766 NA 0.19 0.038935 0.006718 NA 0.007 NA 10.2140984 631 1 156202173 156202173 A G exonic PMF1,PMF1-BGLAP NA nonsynonymous SNV PMF1:NM_001199653:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199661:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199662:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199663:exon2:c.A224G:p.Q75R,PMF1:NM_007221:exon2:c.A224G:p.Q75R exonic ENSG00000160783,ENSG00000260238 NA nonsynonymous SNV ENSG00000260238:ENST00000320139:exon2:c.A224G:p.Q75R,ENSG00000260238:ENST00000368276:exon2:c.A224G:p.Q75R,ENSG00000160783:ENST00000368277:exon2:c.A224G:p.Q75R,ENSG00000160783:ENST00000368279:exon2:c.A224G:p.Q75R,ENSG00000260238:ENST00000490491:exon2:c.A224G:p.Q75R,ENSG00000160783:ENST00000565805:exon2:c.A224G:p.Q75R,ENSG00000160783:ENST00000567140:exon2:c.A224G:p.Q75R NA NA 1q22 NA Name=E2F6_(H-50),MafK_(SC-477),MafK_(ab50322),NF-E2 NA NA rs1052053 0.44 0.44 0.437 0.447284 0.3708 0.3313 0.366 0.7065 0.3528 0.38 0.33 0.36 0.71 0.3852 0.71 1 T 0.0 B 0.0 B 0.030 N 1.000 P -1.5 N 1.61 T -0.942 T 0.006 T 0.103 -1.191 0.077 4.69 1.429 2.569 8.218 -1.191101 NA 1 0.364419 0.674308 NA 0.457 NA 10.2129144 631 20 44640225 44640225 A G exonic MMP9 NA nonsynonymous SNV MMP9:NM_004994:exon6:c.A836G:p.Q279R exonic ENSG00000100985 NA nonsynonymous SNV ENSG00000100985:ENST00000372330:exon6:c.A836G:p.Q279R Score=463;Name=lod=102 NA 20q13.12 NA NA NA NA rs17576 0.45 0.45 0.422 0.455471 0.3807 0.7391 0.2277 0.3442 0.5521 0.39 0.72 0.28 0.35 0.392 0.72 0.28 T 0.004 B 0.01 B 0.302 N 0.988 P 0.145 N 3.03 T -1.052 T 0.000 T 0.118 1.754 11.82 2.71 1.778 2.309 9.352 1.753923 1.753923 0.31 0.347791 0.347935 NA 0.261 NA 10.2128424 631 12 6554628 6554628 G A exonic CD27 NA nonsynonymous SNV CD27:NM_001242:exon2:c.G175A:p.A59T exonic ENSG00000139193 NA nonsynonymous SNV ENSG00000139193:ENST00000266557:exon2:c.G175A:p.A59T NA NA 12p13.31 NA Name=Pol2 NA NA rs25680 0.12 0.12 0.116 0.167532 0.1968 0.0536 0.1239 0.1505 0.3088 0.18 0.02 0.16 0.12 0.1978 0.23 0.59 T 0.473 P 0.265 B 0.273 N 1.000 P 0.895 L -1.74 D -1.103 T 0.000 T 0.076 2.22 13.38 2.66 0.513 0.839 6.020 2.21984 2.21984 0.36 0.229884 0.17635 NA 0.188 NA 10.2088494 631 12 3147203 3147203 C T exonic TEAD4 NA nonsynonymous SNV TEAD4:NM_201443:exon9:c.C580T:p.P194S,TEAD4:NM_201441:exon10:c.C838T:p.P280S,TEAD4:NM_003213:exon11:c.C967T:p.P323S exonic ENSG00000197905 NA nonsynonymous SNV ENSG00000197905:ENST00000397122:exon9:c.C580T:p.P194S,ENSG00000197905:ENST00000358409:exon10:c.C838T:p.P280S,ENSG00000197905:ENST00000359864:exon11:c.C967T:p.P323S NA NA 12p13.33 NA NA NA NA rs11550887 0.03 0.03 0.02 0.0239617 0.0467 NA 0.0879 NA 0.0123 0.04 NA 0.1 NA 0.035 0.1 0.98 T 0.007 B 0.002 B 0.000 D 1.000 N -0.115 N 1.67 T -1.070 T 0.001 T 0.153 -2.306 0.004 4.77 2.182 -0.052 16.802 -2.305616 NA 0.92 0.045 0.006582 NA 0.029 NA 10.2066334 632 2 11740961 11740961 C T exonic GREB1 NA nonsynonymous SNV GREB1:NM_014668:exon16:c.C2369T:p.P790L exonic ENSG00000196208 NA nonsynonymous SNV ENSG00000196208:ENST00000432985:exon7:c.C1271T:p.P424L,ENSG00000196208:ENST00000234142:exon15:c.C2369T:p.P790L,ENSG00000196208:ENST00000381486:exon16:c.C2369T:p.P790L NA NA 2p25.1 Score=776;Name=V$MEF2_01 NA NA NA rs76644468 0.03 0.03 0.02 0.024361 0.0487 NA 0.1009 0.0015 0.001 0.05 NA 0.1 0.0041 0.0412 0.1 0.22 T 0.013 B 0.003 B 0.066 N 0.927 N 1.1 L 3.21 T -1.122 T 0.003 T 0.027 1.314 10.31 4.06 0.823 2.393 10.556 1.314289 1.314289 0.1 0.039717 0.00686 NA 0.022 NA 10.2037164 632 6 56417545 56417545 T C exonic DST NA nonsynonymous SNV DST:NM_015548:exon42:c.A8176G:p.T2726A,DST:NM_183380:exon52:c.A9154G:p.T3052A,DST:NM_001144770:exon53:c.A9274G:p.T3092A,DST:NM_001144769:exon55:c.A9688G:p.T3230A exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000244364:exon42:c.A8176G:p.T2726A,ENSG00000151914:ENST00000446842:exon48:c.A14440G:p.T4814A,ENSG00000151914:ENST00000370788:exon52:c.A9154G:p.T3052A,ENSG00000151914:ENST00000421834:exon52:c.A9154G:p.T3052A,ENSG00000151914:ENST00000361203:exon57:c.A15412G:p.T5138A,ENSG00000151914:ENST00000370769:exon58:c.A15418G:p.T5140A,ENSG00000151914:ENST00000370754:exon61:c.A15952G:p.T5318A Score=417;Name=lod=66 NA 6p12.1 NA Name=MafF_(M8194),MafK_(SC-477) Name=73 NA rs4715631 0.69 0.69 0.668 0.662141 0.7247 0.6488 0.7233 0.6089 0.6401 0.75 0.68 0.7 0.6 0.704 0.75 1 T 0.005 B 0.02 B 0.011 N 0.999 P 1.065 L 1.58 T -0.973 T 0.015 T 0.397 0.699 7.732 2.39 0.184 2.720 8.553 0.699473 NA 0.95 0.70189 0.641645 ID=COSM1445315,COSM1445314;OCCURENCE=1(large_intestine) 0.725 NA 10.2027434 632 1 216011361 216011361 T C exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon47:c.A9343G:p.T3115A exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon47:c.A9343G:p.T3115A,ENSG00000042781:ENST00000366943:exon47:c.A9343G:p.T3115A NA NA 1q41 NA NA NA NA rs56032526 0.06 0.06 0.047 0.0646965 0.0457 0.1577 0.0533 0.0015 0.0818 0.04 0.14 0.04 0.01 0.0487 0.14 1 T 0.0 B 0.001 B 0.925 N 0.194 P -0.255 N 0.66 T -0.937 T 0.001 T 0.04 -0.499 1.71 -5.56 -1.017 0.126 17.253 -0.499351 NA 0.99 0.039767 0.012256 NA 0.036 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041949.1|RCV000087015.2;CLNDSDB=.|.;CLNDSDBID=.|. 10.1991664 632 6 30131585 30131585 G A exonic TRIM15 NA nonsynonymous SNV TRIM15:NM_033229:exon1:c.G124A:p.A42T exonic ENSG00000204610 NA nonsynonymous SNV ENSG00000204610:ENST00000376688:exon1:c.G124A:p.A42T,ENSG00000204610:ENST00000376694:exon1:c.G124A:p.A42T NA NA 6p22.1 NA NA NA NA rs17194467 0.02 0.02 0.022 0.0169728 0.0487 0.002 0.0317 0.0008 0.0112 0.05 0.01 0.03 0.002 0.0335 0.055 0.57 T 0.126 B 0.041 B 0.026 N 1.000 N -0.185 N -2.05 D -0.891 T 0.114 T 0.027 -0.866 0.512 -7.52 -1.495 -0.915 7.365 -0.866102 NA 0.64 0.055002 0.011597 NA 0.123 NA 10.1961314 633 3 174951756 174951756 T C exonic NAALADL2 NA nonsynonymous SNV NAALADL2:NM_207015:exon3:c.T581C:p.M194T exonic ENSG00000177694 NA nonsynonymous SNV ENSG00000177694:ENST00000454872:exon3:c.T581C:p.M194T NA NA 3q26.31 Score=887;Name=V$OCT1_07 NA NA NA rs4371530 0.65 0.65 0.655 0.638778 0.7167 0.6181 0.5749 0.5764 0.7096 0.71 0.66 0.59 0.6 0.6928 0.73 0 D 0.0 B 0.006 B 0.709 N 1.000 P 0 N 1.13 T -0.953 T 0.000 T 0.017 -0.42 2.04 -3.1 -1.349 -1.106 11.737 -0.420179 NA 0.64 0.733985 0.625682 ID=COSM149518;OCCURENCE=1(stomach) 0.536 NA 10.1898484 633 19 9058907 9058907 G C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C28539G:p.H9513Q exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C28539G:p.H9513Q NA NA 19p13.2 NA NA NA NA rs1833777 0.42 0.42 0.413 0.41893 0.3946 0.503 0.3934 0.3593 0.456 0.4 0.5 0.4 0.36 0.3838 0.5 0 D 0.0 B 0.0 B . . . . 0 N 1.77 T -0.935 T 0.000 T 0.024 -0.689 1.009 -4.44 -3.470 -3.662 0.881 -0.688602 NA 0.34 0.365699 0.373676 NA 0.413 NA 10.1892344 633 3 48419897 48419897 C T exonic FBXW12 NA nonsynonymous SNV FBXW12:NM_001159929:exon5:c.C439T:p.R147W,FBXW12:NM_207102:exon6:c.C496T:p.R166W exonic ENSG00000164049 NA nonsynonymous SNV ENSG00000164049:ENST00000436231:exon3:c.C25T:p.R9W,ENSG00000164049:ENST00000445170:exon5:c.C439T:p.R147W,ENSG00000164049:ENST00000296438:exon6:c.C496T:p.R166W NA NA 3p21.31 NA NA NA NA rs6442117 0.62 0.62 0.616 0.619409 0.5298 0.6597 0.6225 0.6021 0.6912 0.54 0.67 0.62 0.65 0.5907 0.67 0.03 D 0.616 P 0.011 B 0.000 N 1.000 P 0 N 1.51 T -0.944 T 0.000 T 0.107 1.24 10.03 -8.47 -3.246 -1.945 0.454 1.240004 1.240004 0.02 0.527209 0.599864 NA 0.529 NA 10.1856244 634 19 9003618 9003618 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon49:c.G40022A:p.R13341H exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon49:c.G40022A:p.R13341H NA NA 19p13.2 Score=772;Name=V$TAXCREB_02 NA NA NA rs11085776 0.65 0.65 0.55 0.620008 0.7177 0.6071 0.7291 0.4599 0.6718 0.69 0.67 0.72 0.5 0.6923 0.74 0 D 0.229 B 0.044 B . . . . . . 1.57 T -1.102 T 0.000 T 0.046 0.047 4.257 -6.47 -2.840 -4.861 10.886 0.046692 NA 0.24 0.742059 0.549853 NA 0.543 NA 10.1812744 634 5 70858342 70858342 A G exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon38:c.A7738G:p.T2580A exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000525844:exon12:c.A1804G:p.T602A,ENSG00000145734:ENST00000358731:exon38:c.A7738G:p.T2580A NA NA 5q13.2 NA NA NA NA rs115185087 0.04 0.04 0.026 0.0367412 0.0507 0.001 0.1354 0.0015 0.0368 0.04 NA 0.13 0.0041 0.0525 0.13 1 T 0.001 B 0.002 B 0.923 N 0.876 D 0.055 N 3.92 T -0.921 T 0.000 T 0.016 -0.786 0.715 -11.3 -1.884 -1.312 11.162 -0.785678 NA 1 0.049621 0.013022 NA 0.014 NA 10.1805124 634 19 12772165 12772165 G A exonic MAN2B1 NA nonsynonymous SNV MAN2B1:NM_000528:exon7:c.C935T:p.T312I,MAN2B1:NM_001173498:exon7:c.C935T:p.T312I exonic ENSG00000104774 NA nonsynonymous SNV ENSG00000104774:ENST00000221363:exon7:c.C935T:p.T312I,ENSG00000104774:ENST00000456935:exon7:c.C935T:p.T312I Score=529;Name=lod=189 NA 19p13.2 NA NA NA NA rs1054487 0.32 0.32 0.336 0.327875 0.4036 0.0615 0.281 0.584 0.2117 0.39 0.05 0.31 0.54 0.3398 0.54 1 T 0.003 B 0.023 B 0.263 N 0.996 P -1.95 N -0.96 T -0.962 T 0.000 T 0.072 -1.241 0.054 -2.19 -0.506 1.938 11.254 -1.240886 NA 1 0.410814 0.536995 ID=COSM1178457;OCCURENCE=1(prostate) 0.399 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079081.3;CLNDSDB=.;CLNDSDBID=. 10.1791194 634 3 124515509 124515509 G A exonic ITGB5 NA synonymous SNV ITGB5:NM_002213:exon10:c.C1419T:p.S473S exonic ENSG00000082781 NA synonymous SNV ENSG00000082781:ENST00000296181:exon10:c.C1419T:p.S473S Score=369;Name=lod=42 NA 3q21.2 Score=861;Name=V$HAND1E47_01 Name=Pol2 NA NA rs2291088 0.16 0.16 0.132 0.163139 0.1521 0.1657 0.2565 0.118 0.1667 0.14 0.19 0.23 0.12 0.175 0.23 . . . . . . . . 0.000 P . . . . -1.064 T 0.000 T . -0.908 0.422 1.33 0.054 2.252 9.290 -0.907623 NA NA 0.161279 0.123241 NA 0.116 NA 10.1782876 634 1 155019710 155019710 A C exonic DCST1 NA nonsynonymous SNV DCST1:NM_001143687:exon13:c.A1459C:p.M487L,DCST1:NM_152494:exon14:c.A1534C:p.M512L exonic ENSG00000163357 NA nonsynonymous SNV ENSG00000163357:ENST00000368419:exon13:c.A1534C:p.M512L,ENSG00000163357:ENST00000423025:exon13:c.A1459C:p.M487L,ENSG00000163357:ENST00000295542:exon14:c.A1534C:p.M512L,ENSG00000163357:ENST00000392480:exon14:c.A1534C:p.M512L Score=381;Name=lod=47 NA 1q22 NA NA NA NA rs11264300 0.53 0.53 0.506 0.554513 0.3569 0.8849 0.5865 0.3858 0.6227 0.36 0.9 0.53 0.36 0.4524 0.9 0.89 T 0.016 B 0.022 B 0.000 N 0.852 P 0.93 L 1.62 T -1.017 T 0.017 T 0.109 1.757 11.83 3.73 0.960 3.293 8.753 1.756878 1.756878 0.14 0.346977 0.40808 ID=COSM1559945;OCCURENCE=1(large_intestine) 0.478 NA 10.1770564 634 1 12942990 12942990 A G exonic PRAMEF4 NA nonsynonymous SNV PRAMEF4:NM_001009611:exon2:c.T226C:p.C76R exonic ENSG00000243073 NA nonsynonymous SNV ENSG00000243073:ENST00000235349:exon2:c.T226C:p.C76R NA NA 1p36.21 NA NA NA NA rs143934691 0.02 0.02 NA 0.0199681 0.0646 0.001 0.0303 0.0008 0.0123 0.04 NA 0.02 NA 0.041 0.051 0.12 T 0.919 P 0.586 P 0.032 N 1.000 N 1.04 L 3.73 T -1.058 T 0.003 T 0.182 0.674 7.608 -2.96 -1.446 -0.437 3.695 0.674144 NA 0.11 0.051028 0.009835 NA NA NA 10.1767054 634 17 7366348 7366348 A C exonic ZBTB4 NA nonsynonymous SNV ZBTB4:NM_001128833:exon4:c.T1953G:p.D651E,ZBTB4:NM_020899:exon4:c.T1953G:p.D651E exonic ENSG00000174282 NA nonsynonymous SNV ENSG00000174282:ENST00000311403:exon4:c.T1953G:p.D651E,ENSG00000174282:ENST00000380599:exon4:c.T1953G:p.D651E NA NA 17p13.1 NA Name=ZNF263 NA NA rs78260319 0.1 0.1 0.057 0.124002 0.0427 0.2381 0.2536 0.0726 0.0675 0.04 0.16 0.15 0.09 0.0883 0.16 0.99 T 0.0 B 0.0 B 0.639 N 1.000 P 0 N 1.67 T -1.079 T 0.000 T 0.123 -1.316 0.034 -10.2 -3.239 -2.586 5.424 -1.315815 NA 1 0.027093 0.071039 NA 0.014 NA 10.1752404 635 6 32629764 32629764 C T exonic HLA-DQB1 NA nonsynonymous SNV HLA-DQB1:NM_001243961:exon3:c.G641A:p.S214N,HLA-DQB1:NM_002123:exon3:c.G641A:p.S214N exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000399082:exon2:c.G371A:p.S124N,ENSG00000179344:ENST00000374943:exon3:c.G641A:p.S214N,ENSG00000179344:ENST00000399079:exon3:c.G641A:p.S214N,ENSG00000179344:ENST00000434651:exon3:c.G641A:p.S214N,ENSG00000179344:ENST00000399084:exon4:c.G641A:p.S214N Score=414;Name=lod=64 NA 6p21.32 Score=792;Name=V$OLF1_01 Name=Pol2-4H8 NA NA rs1130398 0.43 0.43 0.383 0.395567 0.3946 0.4782 0.5476 0.3154 0.3119 0.4 0.49 0.52 0.31 0.4056 0.52 0.04 D 0.0 B 0.001 B 0.396 N 1.000 P . . 4.09 T -0.922 T 0.003 T 0.054 0.352 5.911 1.62 0.319 -0.126 3.541 0.352128 NA 0.09 0.359637 0.296996 NA 0.036 NA 10.1734964 635 9 99581811 99581811 C T exonic ZNF782 NA nonsynonymous SNV ZNF782:NM_001001662:exon6:c.G494A:p.R165H exonic ENSG00000196597 NA nonsynonymous SNV ENSG00000196597:ENST00000535338:exon3:c.G98A:p.R33H,ENSG00000196597:ENST00000478850:exon5:c.G494A:p.R165H,ENSG00000196597:ENST00000481138:exon6:c.G494A:p.R165H NA NA 9q22.33 NA Name=SETDB1 NA NA rs4645656 0.25 0.25 0.307 0.272364 0.0318 0.3185 0.0735 0.6271 0.1339 0.03 0.34 0.07 0.62 0.1083 0.62 0.5 T 0.0 B 0.0 B . . 1.000 P 0.345 N 5.86 T -0.984 T 0.000 T 0.258 0.34 5.842 -4.0 -1.320 -0.145 3.225 0.339619 NA NA 0.020465 0.545166 ID=COSM150638;OCCURENCE=1(stomach) 0.225 NA 10.1727684 635 22 46644177 46644177 G A exonic CDPF1 NA nonsynonymous SNV CDPF1:NM_207327:exon2:c.C5T:p.A2V exonic ENSG00000205643 NA nonsynonymous SNV ENSG00000205643:ENST00000404583:exon1:c.C5T:p.A2V,ENSG00000205643:ENST00000404744:exon1:c.C5T:p.A2V,ENSG00000205643:ENST00000314567:exon2:c.C5T:p.A2V,ENSG00000205643:ENST00000381037:exon2:c.C5T:p.A2V Score=361;Name=lod=39 NA 22q13.31 Score=848;Name=V$TAL1BETAITF2_01 NA NA NA rs61748935 0.06 0.06 0.061 0.0786741 0.0497 0.002 0.0389 0.2156 0.0307 0.03 0.0017 0.05 0.2 0.0613 0.2 0.07 T 0.055 B 0.02 B 0.183 N 0.000 P 1.61 L 1.35 T -1.076 T 0.000 T 0.091 1.999 12.64 3.35 0.605 0.766 5.947 1.999342 1.999342 0.05 0.051628 0.180436 NA 0.145 NA 10.1707054 635 22 20074006 20074006 A G exonic DGCR8 NA nonsynonymous SNV DGCR8:NM_001190326:exon2:c.A520G:p.I174V,DGCR8:NM_022720:exon2:c.A520G:p.I174V exonic ENSG00000128191 NA nonsynonymous SNV ENSG00000128191:ENST00000407755:exon1:c.A520G:p.I174V,ENSG00000128191:ENST00000351989:exon2:c.A520G:p.I174V,ENSG00000128191:ENST00000383024:exon2:c.A520G:p.I174V NA NA 22q11.21 NA Name=Pol2(b) NA NA rs35987994 0.04 0.04 0.04 0.0505192 0.0547 0.0813 0.0101 0.0045 0.1053 0.06 0.07 0.01 0.0041 0.054 0.07 0.49 T 0.0 B 0.0 B 0.336 N 1.000 N 0 N 1.59 T -1.082 T 0.003 T 0.02 -1.13 0.118 -10.8 -3.838 -1.110 4.334 -1.129884 NA 1 0.054535 0.011802 NA 0.043 NA 10.1700984 635 1 210004199 210004199 C G exonic DIEXF NA nonsynonymous SNV DIEXF:NM_014388:exon3:c.C199G:p.Q67E exonic ENSG00000117597 NA nonsynonymous SNV ENSG00000117597:ENST00000491415:exon3:c.C199G:p.Q67E Score=538;Name=lod=205 NA 1q32.2 NA NA Name=5 NA rs585627 0.6 0.6 0.61 0.590056 0.7286 0.3859 0.5418 0.6074 0.6687 0.72 0.41 0.61 0.63 0.673 0.76 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.045 N 1.17 T -0.936 T 0.000 T 0.06 -0.237 2.855 5.02 1.248 5.518 15.931 -0.237372 NA 1 0.76186 0.588516 ID=COSM1338527;OCCURENCE=1(large_intestine) 0.71 NA 10.1698734 635 11 102584104 102584104 T G exonic MMP8 NA nonsynonymous SNV MMP8:NM_002424:exon10:c.A1379C:p.K460T exonic ENSG00000118113 NA nonsynonymous SNV ENSG00000118113:ENST00000236826:exon10:c.A1379C:p.K460T NA NA 11q22.2 Score=810;Name=V$RSRFC4_01 NA NA NA rs35866072 0.08 0.08 0.079 0.0882588 0.0437 0.0089 0.0591 0.2224 0.0552 0.04 0.01 0.06 0.25 0.0663 0.25 0.19 T 0.004 B 0.01 B . . 1.000 P -0.405 N 2.57 T -0.916 T 0.000 T 0.052 0.473 6.566 -8.0 -1.793 -0.226 3.810 0.472756 NA 0.09 0.053617 0.199501 NA 0.087 NA 10.1697164 635 11 5221645 5221645 C G exonic OR51V1 NA nonsynonymous SNV OR51V1:NM_001004760:exon1:c.G286C:p.G96R exonic ENSG00000176742 NA nonsynonymous SNV ENSG00000176742:ENST00000321255:exon1:c.G286C:p.G96R Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs11512276 NA NA NA 0.279952 0.3449 0.3423 0.2277 0.2436 0.2352 NA NA NA NA 0.3192 0.32 0.01 D 0.529 P 0.443 B 0.059 N 0.999 N 1.385 L 4.37 T -0.985 T 0.010 T 0.392 2.094 12.96 3.64 0.897 0.474 5.075 2.093996 2.093996 0.19 NA NA NA 0.326 NA 10.1692334 635 6 31239407 31239407 G T exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon2:c.C312A:p.N104K,HLA-C:NM_002117:exon2:c.C312A:p.N104K exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon2:c.C312A:p.N104K,ENSG00000204525:ENST00000376237:exon2:c.C312A:p.N104K,ENSG00000204525:ENST00000383329:exon2:c.C312A:p.N104K NA NA 6p21.33 Score=837;Name=V$NFY_C Name=CTCF,NFKB,RFX5_(N-494),Pol2,Pol2-4H8 Name=31 NA rs17408553 0.36 0.36 0.348 0.386981 0.4115 0.1399 0.3862 0.5408 0.409 0.41 0.14 0.39 0.53 0.3786 0.54 0.19 T 0.059 B 0.172 B 0.580 U 1.000 P 2.35 M 5.85 T -1.018 T 0.086 T 0.452 0.569 7.072 -0.203 -0.060 -0.046 3.497 0.568503 NA 0.31 0.375784 0.535407 NA 0.101 NA 10.1674494 635 2 202490812 202490812 C A exonic TMEM237 NA nonsynonymous SNV TMEM237:NM_001044385:exon11:c.G1096T:p.A366S,TMEM237:NM_152388:exon11:c.G1072T:p.A358S exonic ENSG00000155755 NA nonsynonymous SNV ENSG00000155755:ENST00000409444:exon12:c.G1072T:p.A358S,ENSG00000155755:ENST00000409883:exon12:c.G1096T:p.A366S Score=551;Name=lod=232 NA 2q33.1 NA NA NA NA rs73989521 0.06 0.06 0.065 0.0625 0.0447 NA 0.0447 0.174 0.0072 0.05 NA 0.04 0.15 0.0686 0.15 0.17 T 0.126 B 0.031 B 0.000 D 0.002 P 0.885 L . . -1.084 T 0.001 T 0.079 2.168 13.2 1.98 0.069 0.711 6.038 2.167621 2.167621 0.23 0.053733 0.149099 NA 0.058 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000118633.2|RCV000125531.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.1663004 635 20 45947853 45947853 T A ncRNA_exonic LOC100131496 NA NA NA exonic ENSG00000267882 NA synonymous SNV ENSG00000267882:ENST00000599904:exon1:c.T489A:p.T163T Score=415;Name=lod=65 NA 20q13.12 Score=955;Name=V$NCX_01 Name=Pol2-4H8,JunD,TCF4,Pol2,TAF1,ELF1_(SC-631) Name=136 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.553066 2.553066 NA NA NA NA NA NA 10.1662666 635 18 14105016 14105016 C A exonic ZNF519 NA nonsynonymous SNV ZNF519:NM_145287:exon3:c.G1523T:p.R508I exonic ENSG00000175322 NA nonsynonymous SNV ENSG00000175322:ENST00000590202:exon3:c.G1523T:p.R508I Score=446;Name=lod=87 NA 18p11.21 NA Name=SETDB1 NA NA rs61609068 0.31 0.31 0.306 0.292133 0.1958 0.6597 0.2622 0.112 0.2771 0.19 0.67 0.24 0.11 0.2535 0.67 0.24 T 0.857 P 0.299 B . . 0.000 P 2.365 M . . -0.928 T 0.000 T 0.12 0.332 5.798 0.646 0.661 0.368 7.223 0.331605 NA NA 0.218837 0.13005 NA 0.232 NA 10.1651964 636 16 72107865 72107865 C T exonic HPR NA nonsynonymous SNV HPR:NM_020995:exon2:c.C80T:p.T27M exonic ENSG00000261701 NA nonsynonymous SNV ENSG00000261701:ENST00000228226:exon1:c.C191T:p.T64M,ENSG00000261701:ENST00000356967:exon2:c.C80T:p.T27M,ENSG00000261701:ENST00000540303:exon2:c.C80T:p.T27M,ENSG00000261701:ENST00000561690:exon2:c.C80T:p.T27M NA NA 16q22.2 NA Name=Pol2 Name=22 NA rs11642506 0.03 0.03 0.031 0.0245607 0.0567 NA 0.0259 0.0008 0.0481 0.06 NA 0.03 NA 0.0513 0.061 0.09 T 0.02 B 0.008 B 0.980 N 1.000 N 0.92 L -2.4 D -0.802 T 0.100 T 0.07 -0.629 1.213 0.581 0.222 0.396 4.141 -0.629181 NA 0.19 0.060652 0.012389 NA 0.022 NA 10.1646814 636 4 9922167 9922167 C T exonic SLC2A9 NA nonsynonymous SNV SLC2A9:NM_020041:exon7:c.G844A:p.V282I,SLC2A9:NM_001001290:exon8:c.G757A:p.V253I exonic ENSG00000109667 NA nonsynonymous SNV ENSG00000109667:ENST00000264784:exon7:c.G844A:p.V282I,ENSG00000109667:ENST00000309065:exon8:c.G757A:p.V253I,ENSG00000109667:ENST00000506583:exon9:c.G757A:p.V253I Score=304;Name=lod=23 Name=Uric acid levels,Urate levels 4p16.1 NA NA NA NA rs16890979 0.22 0.22 0.224 0.263778 0.2137 0.0129 0.3818 0.4803 0.1973 0.2 0.01 0.33 0.43 0.2395 0.43 . . 0.693 P 0.206 B 0.000 N 0.905 P 1.56 L -0.93 T -0.980 T 0.000 T 0.027 0.959 8.913 1.61 -0.007 1.648 9.693 0.959077 NA 0.28 0.220698 0.414435 NA 0.188 NA 10.1594354 636 6 30458064 30458064 G A exonic HLA-E NA nonsynonymous SNV HLA-E:NM_005516:exon3:c.G382A:p.G128R exonic ENSG00000204592 NA nonsynonymous SNV ENSG00000204592:ENST00000376630:exon3:c.G382A:p.G128R Score=284;Name=lod=19 NA 6p21.33 NA Name=IRF1,RFX5_(N-494),Pol2-4H8,E2F6,E2F6_(H-50) Name=119 NA rs1264457 0.51 0.51 0.539 0.514377 0.5676 0.3433 0.5331 0.5726 0.544 0.58 0.36 0.51 0.57 0.5391 0.58 0.01 D 0.696 P 0.073 B 0.222 N 0.989 P . . 9.11 T -1.271 T 0.000 T 0.021 2.084 12.92 0.764 0.265 0.815 4.3 2.083505 2.083505 0.05 0.567737 0.559973 NA 0.558 NA 10.1588964 636 10 102046380 102046380 T G exonic BLOC1S2 NA nonsynonymous SNV BLOC1S2:NM_173809:exon1:c.A37C:p.S13R exonic ENSG00000196072 NA nonsynonymous SNV ENSG00000196072:ENST00000370372:exon1:c.A37C:p.S13R NA NA 10q24.31 NA Name=Oct-2,ELF1_(SC-631),YY1_(C-20),Mxi1_(bHLH),Pol2,Pol2(phosphoS2),POU2F2,GABP,TAF1,TBP,Nrf1,NFKB,HEY1,ZEB1_(SC-25388),Sin3Ak-20,Pol2-4H8,YY1,ELK4 Name=145 NA rs33965491 0.08 0.08 0.075 0.0952476 0.0586 0.0605 0.062 0.174 0.0859 0.06 0.07 0.07 0.13 0.0635 0.13 0.58 T 0.0 B 0.0 B 0.999 N 1.000 P 0 N . . -1.037 T 0.001 T 0.055 0.217 5.17 2.66 0.234 0.309 10.690 0.216979 NA 0.77 0.05284 0.126706 NA 0.058 NA 10.1583934 636 19 58420699 58420699 C A exonic ZNF417 NA nonsynonymous SNV ZNF417:NM_152475:exon3:c.G947T:p.R316L exonic ENSG00000173480 NA nonsynonymous SNV ENSG00000173480:ENST00000312026:exon3:c.G947T:p.R316L,ENSG00000173480:ENST00000595559:exon3:c.G944T:p.R315L,ENSG00000173480:ENST00000536263:exon4:c.G350T:p.R117L NA NA 19q13.43 NA NA NA NA rs3745133 0.3 0.3 0.248 0.33746 0.3499 0.2817 0.2911 0.4153 0.3098 0.33 0.21 0.3 0.34 0.3259 0.34 0.02 D 0.627 P 0.236 B . . 1.000 P 1.86 L 1.82 T -0.989 T 0.000 T 0.174 0.881 8.577 -2.01 -0.691 -2.414 7.886 0.881369 NA 0.1 NA NA ID=COSM148790;OCCURENCE=1(stomach) 0.181 NA 10.1575334 637 19 10088271 10088271 C G exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon42:c.G3125C:p.R1042P exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon42:c.G3125C:p.R1042P Score=456;Name=lod=95 NA 19p13.2 NA NA NA NA rs2161468 0.36 0.36 0.362 0.35024 0.3946 0.3313 0.2522 0.3389 0.409 0.39 0.36 0.27 0.37 0.3803 0.4 1 T 0.018 B 0.001 B 0.001 N 1.000 P -0.465 N -2.61 D -1.047 T 0.000 T 0.083 -1.324 0.033 2.68 0.256 4.928 6.561 -1.324178 NA 1 0.403953 0.36246 NA 0.268 NA 10.1544804 637 3 49343175 49343175 G A exonic USP4 NA synonymous SNV USP4:NM_199443:exon8:c.C960T:p.D320D,USP4:NM_003363:exon9:c.C1101T:p.D367D exonic ENSG00000114316 NA synonymous SNV ENSG00000114316:ENST00000351842:exon8:c.C960T:p.D320D,ENSG00000114316:ENST00000265560:exon9:c.C1101T:p.D367D NA NA 3p21.31 Score=854;Name=V$ARNT_01 Name=EBF,EBF1_(C-8) Name=5 NA rs2230929 0.13 0.13 0.121 0.0916534 0.1968 0.0546 0.098 0.0651 0.0532 0.2 0.07 0.14 0.07 0.144 0.2 . . . . . . . . 0.000 P . . . . -0.996 T 0.000 T . 0.096 4.516 -11.4 -2.469 -0.668 16.227 0.095814 NA NA 0.173372 0.096686 ID=COSM149389;OCCURENCE=1(stomach) 0.196 NA 10.1524946 637 1 152732106 152732106 A T exonic KPRP NA nonsynonymous SNV KPRP:NM_001025231:exon2:c.A42T:p.Q14H exonic ENSG00000203786 NA nonsynonymous SNV ENSG00000203786:ENST00000606109:exon1:c.A42T:p.Q14H,ENSG00000203786:ENST00000368773:exon2:c.A42T:p.Q14H Score=363;Name=lod=40 NA 1q21.3 Score=821;Name=V$TCF11MAFG_01 NA NA NA rs17612167 0.16 0.16 0.12 0.177117 0.2256 0.2262 0.1441 0.0106 0.3252 0.24 0.19 0.14 0.02 0.2249 0.24 0.02 D 0.681 P 0.264 B 0.051 N 1.000 P 0 N 2.71 T -0.927 T 0.007 T 0.067 2.367 13.87 -0.206 0.066 -0.281 8.327 2.367214 2.367214 0.16 0.232209 0.04335 NA 0.101 NA 10.1506244 637 2 206305156 206305156 C T exonic PARD3B NA nonsynonymous SNV PARD3B:NM_057177:exon19:c.C2597T:p.T866I,PARD3B:NM_152526:exon19:c.C2618T:p.T873I exonic ENSG00000116117 NA nonsynonymous SNV ENSG00000116117:ENST00000351153:exon19:c.C2597T:p.T866I,ENSG00000116117:ENST00000358768:exon19:c.C2618T:p.T873I,ENSG00000116117:ENST00000406610:exon20:c.C2804T:p.T935I NA NA 2q33.3 NA NA NA NA rs10185378 0.07 0.07 0.064 0.0670927 0.0567 0.001 0.0461 0.1778 0.0112 0.05 0.0017 0.06 0.18 0.0582 0.18 0.36 T 0.051 B 0.027 B 0.071 N 1.000 P 1.59 L 1.57 T -1.083 T 0.000 T 0.056 -2.065 0.006 4.42 2.670 1.819 8.742 -2.064669 NA 0.55 0.06875 0.175978 NA 0.087 NA 10.1496834 637 2 44071743 44071743 A G exonic ABCG8 NA nonsynonymous SNV ABCG8:NM_022437:exon2:c.A161G:p.Y54C exonic ENSG00000143921 NA nonsynonymous SNV ENSG00000143921:ENST00000272286:exon2:c.A161G:p.Y54C Score=601;Name=lod=371 NA 2p21 NA NA NA NA rs4148211 0.44 0.44 0.373 0.434704 0.3708 0.8512 0.3501 0.1293 0.544 0.39 0.86 0.32 0.12 0.4287 0.86 0.06 T 0.321 B 0.191 B 0.000 N 0.000 P 1.1 L -2.38 D -0.942 T 0.000 T 0.265 2.737 15.11 4.12 0.856 5.345 10.976 2.737366 2.737366 0.05 0.385233 0.195188 NA 0.304 NA 10.1486004 637 3 149468530 149468530 T G exonic COMMD2 NA nonsynonymous SNV COMMD2:NM_016094:exon4:c.A337C:p.I113L exonic ENSG00000114744 NA nonsynonymous SNV ENSG00000114744:ENST00000473414:exon4:c.A337C:p.I113L,ENSG00000114744:ENST00000491617:exon4:c.A337C:p.I113L Score=313;Name=lod=25 NA 3q25.1 NA NA NA NA rs9843784 0.26 0.26 0.238 0.239018 0.4085 0.25 0.268 0.0446 0.2955 0.42 0.23 0.26 0.04 0.3531 0.42 0.31 T 0.016 B 0.011 B 0.000 D 0.017 P 1.475 L 3.07 T -0.913 T 0.000 T 0.141 2.663 14.86 2.7 0.927 2.382 11.807 2.662649 2.662649 0.17 0.423372 0.111439 NA 0.254 NA 10.1483614 637 3 133547692 133547692 G A exonic RAB6B NA synonymous SNV RAB6B:NM_016577:exon8:c.C567T:p.I189I exonic ENSG00000154917 NA synonymous SNV ENSG00000154917:ENST00000285208:exon8:c.C567T:p.I189I,ENSG00000154917:ENST00000543906:exon8:c.C567T:p.I189I,ENSG00000154917:ENST00000486858:exon9:c.C528T:p.I176I Score=622;Name=lod=451 NA 3q22.1 Score=798;Name=V$COMP1_01 Name=SP2_(SC-643),NF-YA,c-Fos,NF-YB,IRF1 Name=9 Score=90;Name=1639988_0_-_90 rs2293373 0.2 0.2 0.165 0.202476 0.171 0.3869 0.2666 0.0091 0.2607 0.17 0.38 0.22 0.02 0.2001 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501065 NA NA 0.14814 0.034952 NA 0.13 NA 10.1474266 637 8 145001588 145001588 C T exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon27:c.G3704A:p.R1235Q,PLEC:NM_201379:exon27:c.G3680A:p.R1227Q,PLEC:NM_201380:exon27:c.G4157A:p.R1386Q,PLEC:NM_201381:exon27:c.G3650A:p.R1217Q,PLEC:NM_201382:exon27:c.G3746A:p.R1249Q,PLEC:NM_201383:exon27:c.G3758A:p.R1253Q,PLEC:NM_201384:exon27:c.G3746A:p.R1249Q,PLEC:NM_000445:exon28:c.G3827A:p.R1276Q exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon27:c.G4157A:p.R1386Q,ENSG00000178209:ENST00000345136:exon27:c.G3746A:p.R1249Q,ENSG00000178209:ENST00000354589:exon27:c.G3746A:p.R1249Q,ENSG00000178209:ENST00000354958:exon27:c.G3680A:p.R1227Q,ENSG00000178209:ENST00000356346:exon27:c.G3704A:p.R1235Q,ENSG00000178209:ENST00000357649:exon27:c.G3758A:p.R1253Q,ENSG00000178209:ENST00000398774:exon27:c.G3650A:p.R1217Q,ENSG00000178209:ENST00000527096:exon27:c.G3815A:p.R1272Q,ENSG00000178209:ENST00000436759:exon28:c.G3827A:p.R1276Q Score=507;Name=lod=154 NA 8q24.3 Score=959;Name=V$AP4_Q5 NA Name=4 NA rs11136334 0.25 0.25 0.222 0.230831 0.4274 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 0.3489 0.42 0.45 T 0.0 B 0.0 B 0.606 N 0.981 P -0.69 N 1.38 T -0.932 T 0.000 T 0.078 1.989 12.61 -0.662 -0.040 0.002 4.689 1.989397 1.989397 0.19 0.411304 0.095519 ID=COSM1489106,COSM454196,COSM454197;OCCURENCE=1(breast) 0.232 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078861.3;CLNDSDB=.;CLNDSDBID=. 10.1457294 638 19 40030704 40030704 C T exonic EID2 NA nonsynonymous SNV EID2:NM_153232:exon1:c.G16A:p.A6T exonic ENSG00000176396 NA nonsynonymous SNV ENSG00000176396:ENST00000390658:exon1:c.G16A:p.A6T NA NA 19q13.2 Score=741;Name=V$SEF1_C Name=GABP,E2F4,POU2F2,TAF1,E2F6,YY1_(C-20),Pol2(phosphoS2),Pol2,Oct-2,GTF2F1_(RAP-74),Pol2-4H8,HA-E2F1,YY1,PAX5-N19,HEY1,TBP NA NA rs7252027 0.2 0.2 0.182 0.198682 0.2396 0.244 0.1686 0.0666 0.3098 0.26 0.26 0.22 0.04 0.2465 0.26 0.19 T 0.938 P 0.363 B 0.481 U 0.998 P 1.39 L -2.25 D -1.097 T 0.000 T 0.037 3.503 17.9 0.166 0.140 0.100 3.575 3.503009 3.503009 0.09 0.203822 0.086856 NA 0.094 NA 10.1434114 638 13 100518580 100518580 A G exonic CLYBL NA nonsynonymous SNV CLYBL:NM_206808:exon6:c.A721G:p.I241V exonic ENSG00000125246 NA nonsynonymous SNV ENSG00000125246:ENST00000419700:exon1:c.A10G:p.I4V,ENSG00000125246:ENST00000376354:exon5:c.A619G:p.I207V,ENSG00000125246:ENST00000376355:exon5:c.A619G:p.I207V,ENSG00000125246:ENST00000444838:exon5:c.A619G:p.I207V,ENSG00000125246:ENST00000339105:exon6:c.A721G:p.I241V,ENSG00000125246:ENST00000376360:exon6:c.A721G:p.I241V Score=473;Name=lod=112 NA 13q32.3 Score=840;Name=V$CDPCR1_01 NA NA NA rs3783185 0.81 0.81 0.814 0.82508 0.7356 0.877 0.7536 0.9047 0.8067 0.72 0.89 0.77 0.87 0.7473 0.89 0.16 T 0.102 B 0.437 B 0.000 N 0.000 P 1.91 M 1.37 T -1.045 T 0.000 T 0.122 2.773 15.23 3.17 0.479 4.849 10.038 2.772797 2.772797 0.09 0.707093 0.87222 ID=COSM1179725;OCCURENCE=1(prostate) 0.877 NA 10.1433404 638 7 1478610 1478610 C T exonic MICALL2 NA nonsynonymous SNV MICALL2:NM_182924:exon10:c.G1988A:p.R663H exonic ENSG00000164877 NA nonsynonymous SNV ENSG00000164877:ENST00000405088:exon6:c.G1352A:p.R451H,ENSG00000164877:ENST00000413446:exon9:c.G1858A:p.A620T,ENSG00000164877:ENST00000297508:exon10:c.G1988A:p.R663H NA NA 7p22.3 NA NA NA NA rs4580937 0.11 0.11 0.086 0.0990415 0.0507 0.0278 0.2176 0.1868 0.0194 0.06 0.04 0.2 0.18 0.0853 0.2 0.62 T 0.015 B 0.001 B 0.068 N 1.000 P 0 N 2.4 T -1.089 T 0.000 T 0.128 1.158 9.715 -6.93 -2.572 -5.739 7.249 1.158115 NA 0.06 0.054429 0.171448 NA 0.152 NA 10.1429044 638 19 17025292 17025292 G A exonic CPAMD8 NA nonsynonymous SNV CPAMD8:NM_015692:exon29:c.C3944T:p.T1315I exonic ENSG00000160111 NA nonsynonymous SNV ENSG00000160111:ENST00000443236:exon29:c.C3944T:p.T1315I Score=461;Name=lod=100 NA 19p13.11 NA NA NA NA rs706761 0.65 0.65 0.665 0.643371 0.5835 0.7073 0.4597 0.8419 0.501 0.59 0.7 0.47 0.83 0.5629 0.83 0.18 T 0.572 P 0.285 B 0.000 U 0.000 P 1.915 M . . -1.030 T 0.000 T 0.109 1.085 9.429 1.8 1.202 4.636 7.718 1.085015 NA 0.15 0.545476 0.805182 NA 0.565 NA 10.1414574 638 10 99439541 99439541 G C exonic AVPI1 NA nonsynonymous SNV AVPI1:NM_021732:exon2:c.C122G:p.A41G exonic ENSG00000119986 NA nonsynonymous SNV ENSG00000119986:ENST00000370626:exon2:c.C122G:p.A41G Score=458;Name=lod=97 NA 10q24.2 NA NA NA NA rs2275047 0.47 0.47 0.467 0.508187 0.3579 0.4742 0.438 0.6982 0.4908 0.35 0.46 0.41 0.69 0.4389 0.69 0.25 T 0.0 B 0.0 B . . 1.000 P -1.1 N 1.59 T -1.015 T 0.000 T 0.014 0.081 4.439 5.09 1.383 1.539 13.397 0.081327 NA 0 0.396279 0.645937 ID=COSM428249;OCCURENCE=2(breast) 0.543 NA 10.1402544 638 16 24918048 24918048 C T exonic SLC5A11 NA nonsynonymous SNV SLC5A11:NM_001258414:exon10:c.C679T:p.R227C exonic ENSG00000158865 NA nonsynonymous SNV ENSG00000158865:ENST00000569071:exon9:c.C679T:p.R227C,ENSG00000158865:ENST00000449109:exon10:c.C679T:p.R227C Score=371;Name=lod=43 NA 16p12.1 NA NA NA NA rs17772929 0.26 0.26 0.26 0.237021 0.4254 0.0169 0.2565 0.3026 0.1677 0.44 0.02 0.28 0.26 0.3384 0.44 0 D 0.007 B 0.001 B . . 0.000 P . . -1.79 D -0.979 T 0.000 T . 2.903 15.67 -2.83 -0.302 -0.908 11.609 2.903209 2.903209 0.08 0.430465 0.335002 ID=COSM1162532;OCCURENCE=1(pancreas) 0.254 NA 10.1390684 638 12 133295353 133295353 C T exonic PGAM5 NA nonsynonymous SNV PGAM5:NM_138575:exon6:c.C725T:p.P242L exonic ENSG00000247077 NA nonsynonymous SNV ENSG00000247077:ENST00000317555:exon6:c.C725T:p.P242L NA NA 12q24.33 NA Name=Pol2(phosphoS2),Pol2 NA NA rs12423651 0.19 0.19 0.143 0.14996 0.0527 0.505 0.1873 0.0038 0.0552 0.06 0.52 0.2 0.01 0.1087 0.52 0 D 1.0 D 1.0 D 0.000 N 1.000 P . . . . -0.918 T 0.000 T 0.023 1.054 9.305 -1.0 -0.434 -0.495 . 1.0541 NA 0 0.032907 0.012937 NA 0.058 NA 10.1390264 638 15 42643538 42643538 A G exonic GANC NA nonsynonymous SNV GANC:NM_198141:exon23:c.A2543G:p.Q848R exonic ENSG00000214013 NA nonsynonymous SNV ENSG00000214013:ENST00000566690:exon5:c.A170G:p.Q57R,ENSG00000214013:ENST00000567596:exon5:c.A170G:p.Q57R,ENSG00000214013:ENST00000318010:exon23:c.A2543G:p.Q848R NA NA 15q15.1 NA NA NA NA rs7180279 0.11 0.11 0.099 0.148562 0.0477 0.0972 0.2925 0.2035 0.1288 0.04 0.06 0.23 0.21 0.0917 0.23 0.3 T 0.002 B 0.002 B 0.833 N 1.000 P -0.345 N -2.1 D -1.081 T 0.000 T 0.163 1.755 11.83 2.85 2.051 0.861 5.219 1.755487 1.755487 0.17 0.056525 0.177258 NA 0.152 NA 10.1374084 639 10 27459746 27459746 C G exonic MASTL NA nonsynonymous SNV MASTL:NM_001172303:exon8:c.C1858G:p.P620A,MASTL:NM_001172304:exon8:c.C1858G:p.P620A,MASTL:NM_032844:exon8:c.C1858G:p.P620A exonic ENSG00000120539 NA nonsynonymous SNV ENSG00000120539:ENST00000342386:exon8:c.C1858G:p.P620A,ENSG00000120539:ENST00000375940:exon8:c.C1858G:p.P620A,ENSG00000120539:ENST00000375946:exon8:c.C1858G:p.P620A NA NA 10p12.1 NA Name=NRSF NA NA rs3802526 0.1 0.1 0.09 0.110423 0.0646 0.1528 0.0432 0.0825 0.1994 0.06 0.2 0.05 0.06 0.0842 0.2 0.48 T 0.287 B 0.124 B 0.051 N 1.000 P 1.87 L 2.03 T -1.013 T 0.000 T 0.086 0.167 4.898 4.32 2.617 0.314 14.799 0.166844 NA 0.11 0.052209 0.081934 NA 0.08 NA 10.1323244 639 19 55693244 55693244 T C exonic PTPRH NA nonsynonymous SNV PTPRH:NM_001161440:exon18:c.A2692G:p.I898V,PTPRH:NM_002842:exon20:c.A3226G:p.I1076V exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000263434:exon18:c.A2692G:p.I898V,ENSG00000080031:ENST00000376350:exon20:c.A3226G:p.I1076V Score=503;Name=lod=148 NA 19q13.42 Score=774;Name=V$PAX6_01 NA NA NA rs2288419 0.34 0.34 0.345 0.401358 0.1928 0.4425 0.4193 0.472 0.4652 0.18 0.45 0.33 0.47 0.3099 0.48 1 T 0.775 P 0.426 B 0.001 N 0.001 P 0.95 L 2.9 T -1.024 T 0.000 T 0.033 0.401 6.18 2.25 0.291 -0.083 6.251 0.401308 NA 0.3 0.202442 0.433954 NA 0.377 NA 10.1281914 639 19 49954803 49954803 C T exonic PIH1D1 NA nonsynonymous SNV PIH1D1:NM_017916:exon1:c.G29A:p.G10E exonic ENSG00000104872 NA nonsynonymous SNV ENSG00000104872:ENST00000262265:exon1:c.G29A:p.G10E,ENSG00000104872:ENST00000596049:exon2:c.G29A:p.G10E,ENSG00000104872:ENST00000599366:exon2:c.G29A:p.G10E,ENSG00000104872:ENST00000601825:exon2:c.G29A:p.G10E NA NA 19q13.33 NA Name=Pol2,NFKB Name=15 NA rs2293013 0.61 0.61 0.579 0.608826 0.7535 0.4117 0.6124 0.6475 0.6084 0.74 0.39 0.63 0.64 0.6862 0.77 1 T 0.0 B 0.0 B 0.225 N 1.000 P -0.695 N 2.94 T -0.997 T 0.000 T 0.108 -1.475 0.018 3.85 0.976 1.388 7.647 -1.474623 NA 1 0.765814 0.61734 NA 0.652 NA 10.1278194 639 5 141019110 141019110 C A exonic RELL2 NA nonsynonymous SNV RELL2:NM_173828:exon4:c.C397A:p.L133I,RELL2:NM_001130029:exon5:c.C397A:p.L133I exonic ENSG00000164620 NA nonsynonymous SNV ENSG00000164620:ENST00000297164:exon4:c.C397A:p.L133I,ENSG00000164620:ENST00000518856:exon4:c.C199A:p.L67I,ENSG00000164620:ENST00000521367:exon4:c.C199A:p.L67I,ENSG00000164620:ENST00000444782:exon5:c.C397A:p.L133I Score=605;Name=lod=383 NA 5q31.3 NA NA NA NA rs14251 0.37 0.37 0.381 0.397564 0.3807 0.1637 0.379 0.5772 0.4264 0.38 0.16 0.4 0.6 0.4086 0.6 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.5 N 1.52 T -0.930 T 0.000 T 0.129 0.355 5.924 5.7 0.990 3.514 12.860 0.354549 NA 1 0.417791 0.514072 NA 0.399 NA 10.1262424 639 1 248085124 248085124 G A exonic OR2T8 NA nonsynonymous SNV OR2T8:NM_001005522:exon1:c.G805A:p.D269N exonic ENSG00000177462 NA nonsynonymous SNV ENSG00000177462:ENST00000319968:exon1:c.G805A:p.D269N NA NA 1q44 NA NA NA NA rs4590708 0.31 0.31 0.28 0.350439 0.1998 0.5387 0.2709 0.2769 0.4673 0.2 0.54 0.26 0.26 0.2865 0.54 0.02 D 0.734 P 0.415 B 0.004 U 1.000 P 1.895 L 8.53 T -1.341 T 0.000 T 0.109 1.92 12.38 3.56 1.816 0.194 8.914 1.919763 1.919763 0 0.2208 0.252383 NA 0.203 NA 10.1262334 639 13 39424253 39424253 C G exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon9:c.C6458G:p.T2153S exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon9:c.C6458G:p.T2153S Score=426;Name=lod=72 NA 13q13.3 NA NA NA NA rs9548506 0.06 0.06 0 0.091853 0.0885 0.001 0.2478 0.0802 0.0941 0.05 0.0017 0.17 0.05 0.1172 0.17 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.07 N 1.55 T -0.975 T 0.000 T 0.081 -1.069 0.174 3.13 0.100 3.496 8.984 -1.069032 NA 1 0.002558 0.001816 NA NA NA 10.1250754 639 19 41944237 41944237 T C exonic ATP5SL NA nonsynonymous SNV ATP5SL:NM_001167867:exon2:c.A119G:p.N40S,ATP5SL:NM_001167868:exon2:c.A119G:p.N40S,ATP5SL:NM_001167869:exon2:c.A101G:p.N34S,ATP5SL:NM_001167870:exon2:c.A101G:p.N34S,ATP5SL:NM_001167871:exon2:c.A101G:p.N34S,ATP5SL:NM_018035:exon2:c.A101G:p.N34S exonic ENSG00000105341 NA nonsynonymous SNV ENSG00000105341:ENST00000221943:exon2:c.A101G:p.N34S,ENSG00000105341:ENST00000301183:exon2:c.A119G:p.N40S,ENSG00000105341:ENST00000417807:exon2:c.A119G:p.N40S,ENSG00000105341:ENST00000438807:exon2:c.A101G:p.N34S,ENSG00000105341:ENST00000586786:exon2:c.A62G:p.N21S,ENSG00000105341:ENST00000589102:exon2:c.A101G:p.N34S,ENSG00000105341:ENST00000589970:exon2:c.A101G:p.N34S,ENSG00000105341:ENST00000590641:exon2:c.A119G:p.N40S,ENSG00000105341:ENST00000592922:exon2:c.A101G:p.N34S,ENSG00000105341:ENST00000595425:exon2:c.A101G:p.N34S,ENSG00000105341:ENST00000597457:exon2:c.A101G:p.N34S NA NA 19q13.2 NA Name=CTCFL_(SC-98982) NA NA rs2231940 0.4 0.4 0.366 0.385383 0.4066 0.5635 0.5144 0.1604 0.3926 0.42 0.54 0.43 0.17 0.4053 0.54 0.82 T 0.018 B 0.016 B 0.301 N 1.000 P -0.09 N 3.12 T -0.960 T 0.000 T 0.002 -0.77 0.758 -6.19 -1.890 -6.233 8.229 -0.770415 NA 0.2 0.396395 0.215388 ID=COSM148638;OCCURENCE=1(stomach) 0.341 NA 10.1250384 639 1 150737220 150737220 A G exonic CTSS NA nonsynonymous SNV CTSS:NM_001199739:exon2:c.T20C:p.V7A,CTSS:NM_004079:exon2:c.T20C:p.V7A exonic ENSG00000163131 NA nonsynonymous SNV ENSG00000163131:ENST00000368985:exon2:c.T20C:p.V7A,ENSG00000163131:ENST00000448301:exon2:c.T20C:p.V7A NA NA 1q21.3 Score=831;Name=V$GR_Q6 Name=p300_(N-15),c-Fos,RPC155 Name=125 NA rs41271951 0.04 0.04 0.028 0.0217652 0.0765 NA 0.0331 0.0008 0.0082 0.09 NA 0.04 0.002 0.0503 0.09 0.37 T 0.0 B 0.0 B 0.008 N 1.000 N -0.345 N -1.13 T -0.979 T 0.109 T 0.036 1.581 11.24 -1.64 -0.377 -0.018 6.373 1.580863 1.580863 0.13 0.081512 0.01498 NA NA NA 10.1250214 640 22 32756407 32756407 A G exonic RFPL3 NA nonsynonymous SNV RFPL3:NM_001098535:exon2:c.A542G:p.Y181C,RFPL3:NM_006604:exon3:c.A455G:p.Y152C exonic ENSG00000128276 NA nonsynonymous SNV ENSG00000128276:ENST00000249007:exon2:c.A542G:p.Y181C,ENSG00000128276:ENST00000382088:exon2:c.A455G:p.Y152C,ENSG00000128276:ENST00000397468:exon3:c.A455G:p.Y152C Score=385;Name=lod=49 NA 22q12.3 NA NA NA NA rs5749408 0.18 0.18 0.136 0.169928 0.0467 0.4583 0.1124 0.1059 0.1268 0.04 0.44 0.13 0.11 0.1087 0.44 0.06 T 0.411 B 0.093 B . . 0.000 P 2.545 M -0.89 T -1.021 T 0.000 T 0.243 0.87 8.527 0.704 0.528 1.786 5.601 0.870091 NA 0 0.055724 0.113255 ID=COSM149282,COSM149283;OCCURENCE=1(stomach) 0.116 NA 10.1222094 640 8 2021421 2021421 G T exonic MYOM2 NA nonsynonymous SNV MYOM2:NM_003970:exon10:c.G961T:p.V321L exonic ENSG00000036448 NA nonsynonymous SNV ENSG00000036448:ENST00000262113:exon10:c.G961T:p.V321L Score=358;Name=lod=38 NA 8p23.3 NA NA NA NA rs2272720 0.31 0.31 0.28 0.279952 0.4046 0.3601 0.379 0.0257 0.3425 0.41 0.36 0.41 0.03 0.3778 0.43 0.43 T 0.005 B 0.017 B 0.012 N 0.000 P 1.345 L -0.23 T -0.985 T 0.000 T 0.152 0.904 8.677 4.63 2.093 5.607 17.493 0.904279 NA 0.36 0.429186 0.095098 NA 0.355 NA 10.1217474 640 15 91354521 91354521 G A exonic BLM NA nonsynonymous SNV BLM:NM_000057:exon21:c.G3961A:p.V1321I exonic ENSG00000197299 NA nonsynonymous SNV ENSG00000197299:ENST00000560509:exon19:c.G3568A:p.V1190I,ENSG00000197299:ENST00000355112:exon21:c.G3961A:p.V1321I NA NA 15q26.1 NA NA NA NA rs7167216 0.07 0.07 0.064 0.0670927 0.0795 0.0238 0.0461 0.0953 0.0757 0.08 0.03 0.06 0.11 0.0663 0.11 0.24 T 0.01 B 0.003 B 0.670 N 1.000 P 0.455 N 0.89 T -1.097 T 0.002 T 0.046 2.764 15.2 -4.78 -1.050 -0.668 17.092 2.7636 2.7636 0.66 0.066426 0.092812 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116501.3;CLNDSDB=.;CLNDSDBID=. 10.1211074 640 6 56482801 56482801 C G exonic DST NA nonsynonymous SNV DST:NM_001723:exon23:c.G6031C:p.V2011L exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000370765:exon23:c.G6031C:p.V2011L Score=409;Name=lod=61 NA 6p12.1 NA NA NA NA rs6459166 0.4 0.4 0.403 0.401757 0.3976 0.2669 0.4063 0.5817 0.2986 0.38 0.25 0.43 0.59 0.3887 0.59 0.49 T 0.0 B 0.0 B . . 1.000 P . . 2.63 T -0.975 T 0.010 T 0.033 -0.571 1.427 5.49 1.332 1.942 12.807 -0.571209 NA 0.48 0.427791 0.550159 NA 0.449 NA 10.1192424 640 5 149755744 149755744 G C exonic TCOF1 NA nonsynonymous SNV TCOF1:NM_000356:exon12:c.G1762C:p.A588P,TCOF1:NM_001135245:exon12:c.G1762C:p.A588P,TCOF1:NM_001008657:exon13:c.G1993C:p.A665P,TCOF1:NM_001135243:exon13:c.G1993C:p.A665P,TCOF1:NM_001135244:exon13:c.G1993C:p.A665P,TCOF1:NM_001195141:exon13:c.G1993C:p.A665P exonic ENSG00000070814 NA nonsynonymous SNV ENSG00000070814:ENST00000323668:exon12:c.G1762C:p.A588P,ENSG00000070814:ENST00000445265:exon12:c.G1762C:p.A588P,ENSG00000070814:ENST00000377797:exon13:c.G1993C:p.A665P,ENSG00000070814:ENST00000394269:exon13:c.G1993C:p.A665P,ENSG00000070814:ENST00000427724:exon13:c.G1993C:p.A665P,ENSG00000070814:ENST00000439160:exon13:c.G1993C:p.A665P,ENSG00000070814:ENST00000451292:exon13:c.G1993C:p.A665P,ENSG00000070814:ENST00000504761:exon13:c.G1993C:p.A665P,ENSG00000070814:ENST00000513346:exon13:c.G1993C:p.A665P NA NA 5q32 NA NA NA NA rs2071240 0.05 0.05 0.04 0.0605032 0.0646 0.122 0.0274 0.0045 0.092 0.06 0.08 0.03 0.01 0.0693 0.081 0.43 T 1.0 D 0.999 D 0.140 N 1.000 P 1.445 L -0.52 T -0.797 T 0.033 T 0.273 2.779 15.25 1.85 0.125 0.180 3.913 2.778545 2.778545 0.09 0.080484 0.013845 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118607.2;CLNDSDB=.;CLNDSDBID=. 10.1189494 640 7 21640361 21640361 T C exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon16:c.T3068C:p.V1023A exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000328843:exon16:c.T3068C:p.V1023A,ENSG00000105877:ENST00000409508:exon16:c.T3068C:p.V1023A Score=278;Name=lod=18 NA 7p15.3 NA NA NA NA rs10269582 0.24 0.24 0.216 0.220447 0.4274 0.0198 0.3112 0.149 0.2464 0.44 0.02 0.33 0.13 0.3529 0.44 0.93 T 0.029 B 0.012 B 0.001 N 0.085 P . . 1.97 T -0.962 T 0.000 T 0.168 -1.709 0.011 4.49 2.161 2.368 10.789 -1.708807 NA 0.84 0.434418 0.177705 NA 0.246 NA 10.1186154 640 15 58838010 58838010 A G exonic LIPC NA nonsynonymous SNV LIPC:NM_000236:exon5:c.A644G:p.N215S exonic ENSG00000166035 NA nonsynonymous SNV ENSG00000166035:ENST00000433326:exon4:c.A461G:p.N154S,ENSG00000166035:ENST00000299022:exon5:c.A644G:p.N215S,ENSG00000166035:ENST00000414170:exon6:c.A644G:p.N215S,ENSG00000166035:ENST00000356113:exon7:c.A644G:p.N215S NA NA 15q21.3 Score=791;Name=V$CART1_01 NA NA NA rs6083 0.59 0.59 0.583 0.608626 0.3847 0.7917 0.4928 0.7141 0.59 0.38 0.85 0.48 0.69 0.4703 0.85 0.04 D 0.028 B 0.014 B 0.109 N 1.000 P 1.495 L -2.61 D -0.994 T 0.000 T 0.013 1.396 10.6 -0.071 0.025 2.059 2.841 1.39631 1.39631 0.06 0.363117 0.678376 NA 0.486 NA 10.1152164 640 8 37728017 37728017 A G exonic RAB11FIP1 NA nonsynonymous SNV RAB11FIP1:NM_025151:exon4:c.T1652C:p.M551T,RAB11FIP1:NM_001002814:exon5:c.T3554C:p.M1185T exonic ENSG00000156675 NA nonsynonymous SNV ENSG00000156675:ENST00000524118:exon3:c.T1208C:p.M403T,ENSG00000156675:ENST00000287263:exon4:c.T1652C:p.M551T,ENSG00000156675:ENST00000522727:exon4:c.T1208C:p.M403T,ENSG00000156675:ENST00000330843:exon5:c.T3554C:p.M1185T Score=486;Name=lod=126 NA 8p11.23 NA Name=GR,c-Jun NA NA rs7817179 0.83 0.83 0.823 0.809505 0.7416 0.9752 0.781 0.8366 0.6922 0.76 0.98 0.75 0.85 0.7573 0.98 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.61 N 2.43 T -0.954 T 0.000 T 0.088 -0.976 0.298 5.42 1.295 1.543 10.847 -0.975855 NA 1 0.719302 0.79369 NA 0.014 NA 10.1151314 641 10 72520254 72520254 C T exonic ADAMTS14 NA nonsynonymous SNV ADAMTS14:NM_080722:exon22:c.C3317T:p.P1106L,ADAMTS14:NM_139155:exon22:c.C3326T:p.P1109L exonic ENSG00000138316 NA nonsynonymous SNV ENSG00000138316:ENST00000373207:exon22:c.C3317T:p.P1106L,ENSG00000138316:ENST00000373208:exon22:c.C3326T:p.P1109L NA NA 10q22.1 NA NA NA NA rs61736607 0.04 0.04 0.025 0.0279553 0.0805 0.001 0.0461 0.0038 0.0215 0.07 NA 0.06 0.0041 0.0538 0.085 0.55 T 0.006 B 0.003 B 0.496 N 1.000 N -0.46 N 0.1 T -1.132 T 0.004 T 0.041 1.143 9.658 3.53 1.220 1.076 12.268 1.143274 NA 0.52 0.085233 0.014072 NA 0.022 NA 10.1138004 641 20 31590686 31590686 C A exonic SUN5 NA nonsynonymous SNV SUN5:NM_080675:exon2:c.G117T:p.E39D exonic ENSG00000167098 NA nonsynonymous SNV ENSG00000167098:ENST00000356173:exon2:c.G117T:p.E39D,ENSG00000167098:ENST00000375519:exon2:c.G117T:p.E39D,ENSG00000167098:ENST00000375523:exon2:c.G117T:p.E39D,ENSG00000167098:ENST00000420875:exon2:c.G84T:p.E28D NA NA 20q11.21 NA NA NA NA rs1133358 0.18 0.18 0.175 0.191094 0.2535 0.0169 0.281 0.2315 0.1881 0.25 0.02 0.26 0.2 0.2236 0.26 0.03 D 0.533 P 0.237 B 0.076 N 1.000 P 1.995 M 2.27 T -1.046 T 0.000 T 0.084 1.561 11.17 2.04 0.641 0.531 10.482 1.561289 1.561289 0 0.242558 0.238538 NA 0.268 NA 10.1136754 641 10 115391612 115391612 G A intronic NRAP NA NA NA exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000369360:exon16:c.C1639T:p.H547Y,ENSG00000197893:ENST00000369358:exon17:c.C1744T:p.H582Y Score=649;Name=lod=579 NA 10q25.3 NA NA Name=16 NA rs17090786 0.01 0.01 0.006 0.0091853 0.0239 NA 0.0187 0.0008 0.0082 0.01 NA 0.02 0.0041 0.0131 0.02 . . . . . . 0.034 N 1.000 D . . 2.56 T -1.032 T 0.016 T 0.062 1.3 10.26 2.53 0.307 0.161 2.916 1.300209 1.300209 0.09 0.017209 0.002497 NA NA NA 10.1124577 641 14 54417522 54417522 A G exonic BMP4 NA nonsynonymous SNV BMP4:NM_001202:exon4:c.T455C:p.V152A,BMP4:NM_130850:exon4:c.T455C:p.V152A,BMP4:NM_130851:exon4:c.T455C:p.V152A exonic ENSG00000125378 NA stoploss ENSG00000125378:ENST00000558961:exon2:c.T313C:p.X105R Score=637;Name=lod=518 NA 14q22.2 NA NA NA NA rs17563 0.37 0.37 0.32 0.325679 0.5497 0.2857 0.3617 0.1831 0.3037 0.56 0.27 0.37 0.2 0.457 0.56 0.28 T 0.002 B 0.007 B 0.000 N 0.001 P 1.39 L -0.08 T -0.920 T 0.000 T 0.176 1.865 12.19 4.05 0.993 5.063 9.132 1.8645 1.8645 0.11 0.548256 0.258284 NA 0.384 NA 10.1117107 641 6 38650628 38650628 T G exonic GLO1 NA nonsynonymous SNV GLO1:NM_006708:exon4:c.A332C:p.E111A exonic ENSG00000124767 NA nonsynonymous SNV ENSG00000124767:ENST00000373365:exon4:c.A332C:p.E111A Score=512;Name=lod=160 NA 6p21.2 NA NA NA NA rs4746 0.3 0.3 0.269 0.28734 0.4185 0.1002 0.3818 0.3132 0.2434 0.42 0.09 0.37 0.33 0.3618 0.44 0.41 T 0.0 B 0.002 B 0.000 N 0.000 P 0.515 N 1.68 T -1.049 T 0.017 T 0.107 1.659 11.51 3.5 0.518 4.247 14.942 1.659204 1.659204 0.2 0.44186 0.349296 NA 0.326 CLINSIG=unknown;CLNDBN=Autism_1;CLNREVSTAT=single;CLNACC=RCV000017412.1;CLNDSDB=MedGen;CLNDSDBID=C1968924 10.1111734 641 3 39323163 39323163 A C exonic CX3CR1 NA nonsynonymous SNV CX3CR1:NM_001171174:exon1:c.T24G:p.F8L exonic ENSG00000168329 NA nonsynonymous SNV ENSG00000168329:ENST00000358309:exon1:c.T24G:p.F8L NA NA 3p22.2 NA Name=PU.1 Name=4 NA rs11715522 0.46 0.46 0.424 0.422923 0.4135 0.6895 0.487 0.1694 0.455 0.41 0.71 0.51 0.21 0.4235 0.71 1 T . . . . . . 1.000 P . . -0.06 T -0.957 T 0.000 T 0.037 1.188 9.831 -2.35 -0.414 -1.109 4.902 1.188448 NA 1 0.385678 0.198342 NA 0.478 NA 10.1106554 641 14 20444012 20444012 A T exonic OR4K15 NA nonsynonymous SNV OR4K15:NM_001005486:exon1:c.A335T:p.E112V exonic ENSG00000169488 NA nonsynonymous SNV ENSG00000169488:ENST00000305051:exon1:c.A335T:p.E112V NA NA 14q11.2 NA NA NA NA rs3861512 0.18 0.18 0.162 0.218251 0.2227 0.123 0.1715 0.2141 0.3507 0.23 0.12 0.18 0.19 0.2368 0.27 0.02 D 0.608 P 0.273 B 0.072 N 1.000 P 2.16 M 4.76 T -0.907 T 0.000 T 0.16 0.46 6.499 -0.288 -0.252 0.973 7.247 0.46028 NA 0.04 0.265534 0.240127 ID=COSM1368755;OCCURENCE=1(large_intestine) 0.196 NA 10.1082994 641 5 140801104 140801104 T C exonic PCDHGA11 NA nonsynonymous SNV PCDHGA11:NM_018914:exon1:c.T310C:p.F104L,PCDHGA11:NM_032091:exon1:c.T310C:p.F104L,PCDHGA11:NM_032092:exon1:c.T310C:p.F104L exonic ENSG00000253873 NA nonsynonymous SNV ENSG00000253873:ENST00000398587:exon1:c.T310C:p.F104L,ENSG00000253873:ENST00000518882:exon1:c.T310C:p.F104L NA NA 5q31.3 NA Name=ZNF263 NA NA rs11167744 0.1 0.1 0.077 0.113219 0.0596 0.1181 0.1499 0.1195 0.1288 0.07 0.12 0.13 0.11 0.095 0.13 1 T 0.0 B 0.0 B 0.714 N 1.000 P -1.685 N 1.86 T -0.989 T 0.000 T 0.095 -0.407 2.098 -3.06 -0.129 -3.692 0.919 -0.406756 NA 1 0.073239 0.113395 NA 0.08 NA 10.1054944 641 16 20802172 20802172 C T exonic ERI2 NA nonsynonymous SNV ERI2:NM_080663:exon9:c.G815A:p.G272D exonic ENSG00000196678 NA nonsynonymous SNV ENSG00000196678:ENST00000300005:exon9:c.G815A:p.G272D NA NA 16p12.3 NA NA NA NA rs2301770 0.11 0.11 0.118 0.106629 0.0755 0.1329 0.0663 0.1263 0.1135 0.08 0.15 0.09 0.14 0.0825 0.15 . . 0.999 D 0.982 D . . 1.000 P . . . . -1.055 T 0.002 T 0.106 0.444 6.413 -0.5 -0.080 -1.022 5.237 0.444309 NA 0 0.070233 0.114721 NA 0.101 NA 10.1051004 642 19 41633980 41633980 C T exonic CYP2F1 NA nonsynonymous SNV CYP2F1:NM_000774:exon10:c.C1469T:p.P490L exonic ENSG00000197446 NA nonsynonymous SNV ENSG00000197446:ENST00000331105:exon10:c.C1469T:p.P490L NA NA 19q13.2 NA Name=Rad21,CTCF,RXRA,Pol2,c-Myc,NFKB,CTCF_(C-20),HA-E2F1,ZNF263 Name=109 NA rs7246981 0.06 0.06 0.035 0.0557109 0.0875 0.001 0.2161 0.0015 0.0389 0.09 0.0017 0.15 0.002 0.0736 0.15 0.01 D 0.004 B 0.001 B 0.032 U 1.000 P 1.65 L 2.43 T -1.044 T 0.000 T 0.06 1.332 10.37 -0.195 -0.211 -0.276 2.873 1.332271 1.332271 0.01 0.070614 0.013495 NA 0.007 NA 10.1016194 642 19 15996820 15996820 G A exonic CYP4F2 NA synonymous SNV CYP4F2:NM_001082:exon9:c.C1029T:p.H343H exonic ENSG00000186115 NA nonsynonymous SNV ENSG00000186115:ENST00000011989:exon7:c.C515T:p.T172I Score=510;Name=lod=158 NA 19p13.12 NA Name=NRSF NA NA rs2074900 0.25 0.25 0.239 0.233027 0.2972 0.2222 0.2421 0.1725 0.2536 0.31 0.24 0.22 0.22 0.2864 0.31 0 D 0.004 B 0.009 B . . 0.000 P . . 1.8 T -0.978 T 0.000 T . 1.085 9.429 1.49 0.379 2.531 5.187 1.085048 NA 0.37 0.314884 0.189741 NA 0.384 NA 10.101516 642 20 60968547 60968547 A G exonic CABLES2 NA nonsynonymous SNV CABLES2:NM_031215:exon6:c.T829C:p.S277P exonic ENSG00000149679 NA nonsynonymous SNV ENSG00000149679:ENST00000279101:exon6:c.T829C:p.S277P NA NA 20q13.33 NA NA NA NA rs41284972 0.05 0.05 0.059 0.0858626 0.0815 0.0089 0.0447 0.0522 0.2444 0.09 0.01 0.05 0.06 0.0837 0.09 0.26 T 0.885 P 0.53 P 0.135 N 1.000 P 1.385 L 0.82 T -1.069 T 0.005 T 0.283 0.97 8.957 2.44 0.176 1.250 2.950 0.969725 NA 0.24 0.067674 0.057876 NA 0.109 NA 10.1004594 642 6 150114745 150114745 G A exonic PCMT1 NA nonsynonymous SNV PCMT1:NM_001252050:exon4:c.G427A:p.V143I,PCMT1:NM_001252051:exon4:c.G427A:p.V143I,PCMT1:NM_001252052:exon4:c.G427A:p.V143I,PCMT1:NM_001252049:exon5:c.G532A:p.V178I,PCMT1:NM_001252053:exon5:c.G532A:p.V178I,PCMT1:NM_005389:exon5:c.G532A:p.V178I exonic ENSG00000120265 NA nonsynonymous SNV ENSG00000120265:ENST00000544496:exon4:c.G253A:p.V85I,ENSG00000120265:ENST00000367378:exon5:c.G532A:p.V178I,ENSG00000120265:ENST00000367380:exon5:c.G358A:p.V120I,ENSG00000120265:ENST00000367384:exon5:c.G532A:p.V178I,ENSG00000120265:ENST00000464889:exon5:c.G532A:p.V178I,ENSG00000120265:ENST00000495487:exon5:c.G265A:p.V89I Score=631;Name=lod=490 NA 6q25.1 Score=872;Name=V$BACH2_01 NA NA NA rs4816 0.64 0.64 0.629 0.667332 0.3678 0.8343 0.6715 0.9009 0.4847 0.35 0.8 0.63 0.89 0.4918 0.89 0.39 T 0.0 B 0.001 B 0.000 N 1.000 P -0.575 N 1.98 T -1.025 T 0.017 T 0.078 1.576 11.22 4.61 0.453 2.084 10.463 1.575546 1.575546 1 0.373343 0.79596 NA 0.717 NA 10.1003904 642 5 79032666 79032666 C T exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.C8078T:p.T2693I exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.C8078T:p.T2693I NA NA 5q14.1 NA NA NA NA rs28362541 0.21 0.21 0.245 0.181909 0.0596 0.3621 0.0476 0.2776 0.0879 0.06 0.41 0.04 0.33 0.1076 0.41 0.02 D 0.007 B 0.0 B . . 1.000 P 0 N 2.25 T -0.906 T 0.000 T 0.02 -0.283 2.648 -3.19 -1.139 0.094 0.154 -0.282578 NA 0.65 0.065886 0.232806 NA 0.21 NA 10.1002474 642 5 140595343 140595343 G C exonic PCDHB13 NA nonsynonymous SNV PCDHB13:NM_018933:exon1:c.G1648C:p.V550L exonic ENSG00000187372 NA nonsynonymous SNV ENSG00000187372:ENST00000341948:exon1:c.G1648C:p.V550L NA NA 5q31.3 NA NA NA NA rs56309578 0.06 0.06 0.028 0.0684904 0.0795 0.003 0.0663 0.1377 0.0327 0.06 0.0035 0.05 0.14 0.0684 0.14 1 T 0.0 B 0.003 B . . 1.000 N 0.24 N 4.66 T -0.951 T 0.000 T 0.064 -1.352 0.028 -3.54 -1.078 -2.965 4.891 -1.351816 NA 0.56 0.085389 0.118529 NA 0.058 NA 10.1000444 642 1 152129087 152129087 T C exonic RPTN NA nonsynonymous SNV RPTN:NM_001122965:exon3:c.A488G:p.K163R exonic ENSG00000215853 NA nonsynonymous SNV ENSG00000215853:ENST00000316073:exon3:c.A488G:p.K163R NA NA 1q21.3 NA NA NA NA rs78544048 0.23 0.23 0.17 0.27476 0.1779 0.2996 0.4741 0.2216 0.2791 0.17 0.27 0.35 0.18 0.0002 0.35 0.69 T 0.0 B 0.001 B 0.585 N 1.000 P -2.175 N 2.63 T -0.962 T 0.002 T 0.004 -0.794 0.693 -4.06 -1.459 -1.098 5.483 -0.793571 NA 1 0.056411 0.070562 NA 0.167 NA 10.0988224 642 3 191093310 191093310 A G exonic CCDC50 NA nonsynonymous SNV CCDC50:NM_178335:exon6:c.A908G:p.K303R exonic ENSG00000152492 NA nonsynonymous SNV ENSG00000152492:ENST00000392456:exon6:c.A908G:p.K303R Score=475;Name=lod=114 NA 3q28 NA NA NA NA rs4677728 0.5 0.5 0.51 0.502196 0.4105 0.4702 0.4697 0.7247 0.3517 0.42 0.44 0.46 0.72 0.4294 0.72 1 T 0.11 B 0.025 B 0.125 N 0.000 P . . 1.56 T -0.950 T 0.000 T 0.039 0.545 6.952 2.32 0.168 1.352 7.377 0.545436 NA 0.85 0.395116 0.670527 NA 0.464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041449.1;CLNDSDB=.;CLNDSDBID=. 10.0983174 642 12 122392038 122392038 C T exonic WDR66 NA nonsynonymous SNV WDR66:NM_001178003:exon10:c.C1333T:p.L445F,WDR66:NM_144668:exon10:c.C1333T:p.L445F exonic ENSG00000158023 NA nonsynonymous SNV ENSG00000158023:ENST00000288912:exon10:c.C1333T:p.L445F,ENSG00000158023:ENST00000397454:exon10:c.C1333T:p.L445F Score=428;Name=lod=73 NA 12q24.31 NA NA NA NA rs11043265 0.24 0.24 0.255 0.310503 0.0527 0.2937 0.0749 0.6309 0.3272 0.06 0.26 0.09 0.62 0.1371 0.62 0.65 T 0.424 B 0.223 B 0.703 N 0.999 P 1.59 L 0.61 T -0.955 T 0.000 T 0.071 1.624 11.39 3.52 1.295 0.184 9.323 1.624335 1.624335 0.05 0.045355 0.526709 NA 0.246 NA 10.0981784 642 3 14755617 14755617 C G exonic C3orf20 NA nonsynonymous SNV C3orf20:NM_001184957:exon8:c.C898G:p.L300V,C3orf20:NM_001184958:exon8:c.C898G:p.L300V,C3orf20:NM_032137:exon8:c.C1264G:p.L422V exonic ENSG00000131379 NA nonsynonymous SNV ENSG00000131379:ENST00000253697:exon8:c.C1264G:p.L422V,ENSG00000131379:ENST00000412910:exon8:c.C898G:p.L300V,ENSG00000131379:ENST00000435614:exon8:c.C898G:p.L300V Score=414;Name=lod=64 NA 3p25.1 Score=705;Name=V$HOX13_01 NA NA NA rs6790129 0.41 0.41 0.416 0.378994 0.4175 0.3234 0.4568 0.4244 0.2802 0.42 0.33 0.44 0.47 0.3927 0.47 0.28 T 0.873 P 0.49 P 0.001 N 0.922 P 1.905 M 2.55 T -0.928 T 0.000 T 0.139 2.702 14.99 1.57 0.306 -0.090 2.053 2.701572 2.701572 0.3 0.425581 0.431003 NA 0.449 NA 10.0975524 642 19 41939297 41939297 C G exonic ATP5SL NA nonsynonymous SNV ATP5SL:NM_001167871:exon4:c.G395C:p.C132S,ATP5SL:NM_001167867:exon5:c.G494C:p.C165S,ATP5SL:NM_018035:exon5:c.G476C:p.C159S exonic ENSG00000105341 NA nonsynonymous SNV ENSG00000105341:ENST00000590641:exon4:c.G413C:p.C138S,ENSG00000105341:ENST00000592922:exon4:c.G395C:p.C132S,ENSG00000105341:ENST00000595425:exon4:c.G395C:p.C132S,ENSG00000105341:ENST00000221943:exon5:c.G476C:p.C159S,ENSG00000105341:ENST00000417807:exon5:c.G494C:p.C165S,ENSG00000105341:ENST00000589102:exon5:c.G422C:p.C141S Score=414;Name=lod=64 NA 19q13.2 NA Name=Pol2 NA NA rs1043413 0.5 0.5 0.525 0.506789 0.4095 0.5694 0.5504 0.5938 0.3937 0.42 0.54 0.48 0.6 0.4368 0.6 0.32 T 0.001 B 0.001 B 0.000 N 0.000 P -0.505 N 1.64 T -0.960 T 0.000 T 0.033 0.873 8.539 3.39 0.617 2.613 7.807 0.872772 NA 0.47 0.391395 0.558103 NA 0.457 NA 10.0956384 643 2 228131169 228131169 A G exonic COL4A3 NA nonsynonymous SNV COL4A3:NM_000091:exon22:c.A1352G:p.H451R exonic ENSG00000169031 NA nonsynonymous SNV ENSG00000169031:ENST00000396578:exon22:c.A1352G:p.H451R NA NA 2q36.3 NA NA NA NA rs11677877 0.1 0.1 0.079 0.111422 0.0686 0.1577 0.183 0.0666 0.1176 0.06 0.15 0.17 0.05 0.0944 0.17 0.86 T 0.145 B 0.1 B 0.417 N 1.000 P -1.665 N -4.07 D -0.661 T 0.003 T 0.035 0.261 5.41 -4.09 -1.113 -0.285 4.196 0.260736 NA 0.5 0.076679 0.06654 NA 0.051 NA 10.0936544 643 6 32783086 32783086 A G exonic HLA-DOB NA synonymous SNV HLA-DOB:NM_002120:exon2:c.T96C:p.D32D exonic ENSG00000241106 NA synonymous SNV ENSG00000241106:ENST00000438763:exon2:c.T96C:p.D32D Score=500;Name=lod=144 NA 6p21.32 NA NA Name=46 NA rs7383287 0.12 0.12 0.111 0.132388 0.1839 0.0308 0.1268 0.1831 0.1196 0.19 0.03 0.12 0.12 0.1776 0.21 . . . . . . . . 0.000 P . . . . -0.949 T 0.122 T . 1.339 10.4 4.28 1.907 0.298 11.651 1.339479 1.339479 NA 0.21186 0.182932 NA 0.167 NA 10.0933066 643 1 161088583 161088583 T G exonic NIT1 NA nonsynonymous SNV NIT1:NM_001185092:exon2:c.T10G:p.F4V,NIT1:NM_005600:exon2:c.T10G:p.F4V exonic ENSG00000158793 NA nonsynonymous SNV ENSG00000158793:ENST00000368008:exon2:c.T10G:p.F4V,ENSG00000158793:ENST00000368009:exon2:c.T10G:p.F4V Score=444;Name=lod=85 NA 1q23.3 Score=892;Name=V$ZID_01 NA NA NA rs41270017 0.07 0.07 0.087 0.0928514 0.0736 0.0675 0.0663 0.1067 0.1391 0.07 0.06 0.06 0.1 0.0877 0.12 0.26 T 0.0 B 0.0 B 0.452 N 0.000 P 0.345 N -0.94 T -1.061 T 0.137 T 0.103 1.542 11.11 2.52 0.903 0.594 9.211 1.542148 1.542148 0.28 0.079186 0.115751 NA 0.051 NA 10.0928474 643 22 36123083 36123083 C T exonic APOL5 NA nonsynonymous SNV APOL5:NM_030642:exon3:c.C968T:p.T323M exonic ENSG00000128313 NA nonsynonymous SNV ENSG00000128313:ENST00000249044:exon3:c.C968T:p.T323M NA NA 22q12.3 NA NA NA NA rs2076672 0.18 0.18 0.167 0.148562 0.2545 0.0804 0.2032 0.0923 0.1472 0.27 0.07 0.24 0.11 0.2261 0.27 0 D 0.998 D 0.837 P 0.358 U 1.000 P 1.59 L 3.7 T -0.914 T 0.000 T 0.1 2.253 13.49 1.78 0.174 0.985 7.039 2.253235 2.253235 0 0.263256 0.118702 NA 0.145 NA 10.0894774 643 11 56756399 56756399 G T exonic OR5AK2 NA nonsynonymous SNV OR5AK2:NM_001005323:exon1:c.G11T:p.G4V exonic ENSG00000181273 NA nonsynonymous SNV ENSG00000181273:ENST00000326855:exon1:c.G11T:p.G4V NA NA 11q12.1 NA NA NA NA rs10896563 0.14 0.14 0.129 0.136581 0.0746 0.3879 0.0778 0.025 0.1339 0.07 0.37 0.05 0.03 0.0997 0.37 0.17 T 0.262 B 0.194 B 0.525 N 1.000 P 1.145 L 7.08 T -1.097 T 0.000 T 0.033 -0.073 3.646 -4.16 -1.062 -2.403 6.529 -0.072519 NA 0.08 0.070764 0.025443 NA 0.159 NA 10.0882694 643 4 79437155 79437155 C T exonic FRAS1 NA synonymous SNV FRAS1:NM_025074:exon66:c.C10377T:p.T3459T exonic ENSG00000138759 NA synonymous SNV ENSG00000138759:ENST00000264895:exon66:c.C10377T:p.T3459T Score=352;Name=lod=36 NA 4q21.21 Score=845;Name=V$ZID_01 NA NA NA rs3749487 0.2 0.2 0.176 0.176518 0.2058 0.2242 0.1398 0.177 0.1227 0.2 0.22 0.16 0.2 0.191 0.22 . . . . . . . . 0.000 P . . . . -0.985 T 0.000 T . -0.603 1.309 -4.61 -0.358 -1.645 2.796 -0.602724 NA NA 0.181829 0.178121 ID=COSM1131029,COSM1131030;OCCURENCE=1(prostate) 0.246 NA 10.0880376 643 14 70924602 70924602 T G exonic ADAM21 NA nonsynonymous SNV ADAM21:NM_003813:exon2:c.T386G:p.F129C exonic ENSG00000139985 NA nonsynonymous SNV ENSG00000139985:ENST00000267499:exon1:c.T386G:p.F129C,ENSG00000139985:ENST00000603540:exon2:c.T386G:p.F129C NA NA 14q24.2 NA NA NA NA rs72735759 NA NA 0.046 NA NA NA NA NA NA NA NA NA NA 0.2459 0.011 0.11 T 0.407 B 0.258 B 0.261 U 1.000 N 1.865 L 5.29 T -1.046 T 0.005 T 0.318 -1.273 0.044 -7.52 -2.633 -1.073 1.36 -1.273422 NA 0.12 NA NA NA 0.043 NA 10.0874334 643 11 120989335 120989335 A G exonic TECTA NA nonsynonymous SNV TECTA:NM_005422:exon6:c.A1111G:p.R371G exonic ENSG00000109927 NA nonsynonymous SNV ENSG00000109927:ENST00000264037:exon6:c.A1111G:p.R371G,ENSG00000109927:ENST00000392793:exon7:c.A1111G:p.R371G Score=243;Name=lod=13 NA 11q23.3 NA NA NA NA rs612969 0.46 0.46 0.449 0.443291 0.4314 0.246 0.3818 0.7428 0.2975 0.44 0.3 0.41 0.72 0.403 0.72 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.815 N 0.36 T -0.909 T 0.000 T 0.037 -0.024 3.893 3.86 0.364 4.856 11.718 -0.023615 NA 1 0.412305 0.663187 NA 0.529 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038479.1;CLNDSDB=.;CLNDSDBID=. 10.0866284 643 9 125391241 125391241 G A exonic OR1B1 NA stopgain OR1B1:NM_001004450:exon1:c.C574T:p.R192X exonic ENSG00000171484 NA stopgain ENSG00000171484:ENST00000304833:exon1:c.C574T:p.R192X NA NA 9q33.2 NA NA NA NA rs1476860 0.33 0.33 0.307 0.339257 0.2763 0.5972 0.4683 0.053 0.4335 0.28 0.57 0.41 0.08 0.3404 0.57 0.19 T . . . . 0.288 N 0.000 P . . . . . . . . . 3.187 16.67 -6.05 -0.973 -1.276 7.867 3.187345 3.187345 0.53 0.296977 0.090331 NA 0.225 NA 10.086323 643 13 28009031 28009031 G C exonic GTF3A NA nonsynonymous SNV GTF3A:NM_002097:exon7:c.G733C:p.V245L exonic ENSG00000122034 NA nonsynonymous SNV ENSG00000122034:ENST00000381140:exon7:c.G733C:p.V245L Score=251;Name=lod=14 NA 13q12.2 NA NA NA NA rs7323 0.2 0.2 0.162 0.173323 0.2505 0.0913 0.2363 0.2057 0.09 0.26 0.05 0.27 0.2 0.2233 0.27 0.18 T 0.854 P 0.22 B 0.007 N 0.062 P 1.09 L 3.01 T -0.875 T 0.000 T 0.138 2.449 14.15 2.92 0.313 4.024 10.520 2.448947 2.448947 0.01 0.27359 0.205357 ID=COSM1366159;OCCURENCE=1(large_intestine) 0.181 NA 10.0859434 644 17 38936659 38936659 C T exonic KRT27 NA nonsynonymous SNV KRT27:NM_181537:exon3:c.G577A:p.G193S exonic ENSG00000171446 NA nonsynonymous SNV ENSG00000171446:ENST00000301656:exon3:c.G577A:p.G193S Score=355;Name=lod=37 NA 17q21.2 Score=921;Name=V$CDPCR3HD_01 NA NA NA rs17558560 0.4 0.4 0.384 0.348842 0.4076 0.6617 0.2939 0.121 0.3129 0.42 0.65 0.31 0.12 0.4051 0.65 0.09 T 0.152 B 0.314 B 0.002 N 0.015 P 1.775 L -1.63 D -0.888 T 0.000 T 0.037 2.61 14.69 3.41 0.639 0.735 11.131 2.609788 2.609788 0.03 0.435698 0.157512 NA 0.333 NA 10.0849354 644 9 91994433 91994433 C T exonic SEMA4D NA nonsynonymous SNV SEMA4D:NM_006378:exon18:c.G1775A:p.G592D exonic ENSG00000187764 NA nonsynonymous SNV ENSG00000187764:ENST00000422704:exon16:c.G1775A:p.G592D,ENSG00000187764:ENST00000450295:exon16:c.G1775A:p.G592D,ENSG00000187764:ENST00000356444:exon17:c.G1775A:p.G592D,ENSG00000187764:ENST00000438547:exon18:c.G1775A:p.G592D NA NA 9q22.2 Score=798;Name=V$PPARG_03 NA NA NA rs45464494 0.04 0.04 0.039 0.04373 0.0845 NA 0.0375 0.003 0.1063 0.08 NA 0.04 0.01 0.0766 0.11 0.77 T 0.0 B 0.001 B 0.281 N 1.000 P -0.145 N 1.94 T -0.989 T 0.001 T 0.04 -0.004 3.996 3.07 0.676 2.059 5.974 -0.003557 NA 0.38 0.088256 0.015433 NA 0.072 NA 10.0839774 644 21 47556882 47556882 G A UTR3 FTCD NM_206965:c.*19C>T NA NA exonic ENSG00000160282 NA nonsynonymous SNV ENSG00000160282:ENST00000359679:exon14:c.C1625T:p.P542L,ENSG00000160282:ENST00000397748:exon14:c.C1625T:p.P542L NA NA 21q22.3 NA NA NA NA rs79622089 0.05 0.05 0.045 0.0355431 0.0915 0.006 0.0403 0.034 0.0072 0.08 0.01 0.05 0.05 0.0631 0.095 0 D 0.001 B 0.0 B . . 1.000 N . . -0.72 T -1.043 T 0.003 T 0.181 -1.374 0.026 -3.34 -1.427 -4.010 4.692 -1.373792 NA 0 0.094884 0.047457 NA 0.014 NA 10.0838494 644 18 57026361 57026361 A G exonic LMAN1 NA nonsynonymous SNV LMAN1:NM_005570:exon1:c.T116C:p.V39A exonic ENSG00000074695 NA nonsynonymous SNV ENSG00000074695:ENST00000251047:exon1:c.T116C:p.V39A NA NA 18q21.32 NA Name=HEY1,NFKB,TBP,YY1,Sin3Ak-20,Pol2-4H8,ELF1_(SC-631),TAF1,Pol2,NRSF,YY1_(C-20) NA NA rs33926449 0.08 0.08 0.085 0.0754792 0.0964 NA 0.0764 0.143 0.0399 0.09 NA 0.09 0.14 0.0701 0.14 0.83 T 0.0 B 0.0 B 0.281 N 1.000 P 0 N 0.65 T -1.024 T 0.000 T 0.019 -1.773 0.01 -5.14 -1.538 -0.169 9.594 -1.772631 NA 1 0.086532 0.128688 NA 0.043 NA 10.0803014 644 4 38800214 38800214 C G exonic TLR1 NA nonsynonymous SNV TLR1:NM_003263:exon4:c.G239C:p.R80T exonic ENSG00000174125 NA nonsynonymous SNV ENSG00000174125:ENST00000505940:exon2:c.G239C:p.R80T,ENSG00000174125:ENST00000502213:exon3:c.G239C:p.R80T,ENSG00000174125:ENST00000515861:exon3:c.G239C:p.R80T,ENSG00000174125:ENST00000308979:exon4:c.G239C:p.R80T NA NA 4p14 NA NA NA NA rs5743611 0.04 0.04 0.03 0.0225639 0.0934 NA 0.013 0.0061 0.002 0.1 NA 0.01 0.01 0.0689 0.1 0.05 D 0.132 B 0.142 B 0.079 N 1.000 P 2.31 M 0.22 T -0.669 T 0.027 T 0.368 0.772 8.08 3.22 0.794 0.057 3.840 0.772095 NA 0.06 0.090814 0.014072 NA 0.08 NA 10.0802194 644 20 45315769 45315769 T C exonic TP53RK NA nonsynonymous SNV TP53RK:NM_033550:exon2:c.A385G:p.T129A exonic ENSG00000172315 NA nonsynonymous SNV ENSG00000172315:ENST00000372114:exon2:c.A385G:p.T129A NA NA 20q13.12 NA NA NA NA rs11550540 0.04 0.04 0.048 0.0273562 0.0905 0.001 0.0346 0.0023 0.0184 0.1 NA 0.03 0.01 0.0661 0.1 0.66 T 0.007 B 0.011 B 0.024 N 0.826 D 0.835 L 2.02 T -0.984 T 0.001 T 0.008 -0.776 0.742 3.0 0.447 1.561 3.869 -0.775919 NA 0.63 0.09686 0.016576 NA 0.087 NA 10.0798734 644 10 129901747 129901747 C T exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.G7277A:p.R2426Q,MKI67:NM_002417:exon13:c.G8357A:p.R2786Q exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.G7277A:p.R2426Q,ENSG00000148773:ENST00000368654:exon13:c.G8357A:p.R2786Q NA NA 10q26.2 NA NA NA NA rs10764749 0.2 0.2 0.195 0.179712 0.2704 0.1181 0.3112 0.0787 0.1933 0.27 0.15 0.33 0.06 0.2361 0.33 0.63 T 0.991 D 0.644 P . . 1.000 P 0.06 N 4.57 T -0.969 T 0.000 T 0.054 3.066 16.23 -5.02 -1.121 -0.829 0.584 3.065692 3.065692 0.43 0.247791 0.093509 NA 0.13 NA 10.0790424 644 10 129901501 129901501 G C exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.C7523G:p.T2508S,MKI67:NM_002417:exon13:c.C8603G:p.T2868S exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.C7523G:p.T2508S,ENSG00000148773:ENST00000368654:exon13:c.C8603G:p.T2868S NA NA 10q26.2 NA NA Name=2 NA rs2071496 0.2 0.2 0.179 0.180312 0.2714 0.119 0.3112 0.0787 0.1943 0.27 0.15 0.33 0.06 0.2359 0.33 0.77 T 0.99 D 0.798 P . . 1.000 P 1.01 L 4.33 T -1.018 T 0.000 T 0.035 1.751 11.81 -2.31 -0.761 -0.652 2.895 1.750579 1.750579 0.33 0.247674 0.09419 ID=COSM146353;OCCURENCE=1(stomach) 0.138 NA 10.0783594 644 21 47581835 47581835 C T exonic SPATC1L NA nonsynonymous SNV SPATC1L:NM_032261:exon3:c.G229A:p.E77K,SPATC1L:NM_001142854:exon4:c.G691A:p.E231K exonic ENSG00000160284 NA nonsynonymous SNV ENSG00000160284:ENST00000330205:exon3:c.G229A:p.E77K,ENSG00000160284:ENST00000291672:exon4:c.G691A:p.E231K Score=419;Name=lod=67 NA 21q22.3 NA NA NA NA rs113710653 0.05 0.05 0.057 0.0405351 0.0964 0.0139 0.0504 0.0106 0.044 0.09 0.01 0.06 0.01 0.0741 0.09 0.67 T 0.0 B 0.0 B 0.001 N 1.000 N -1.39 N 1.14 T -1.003 T 0.001 T 0.057 0.675 7.612 3.27 0.117 1.022 4.598 0.674926 NA 0.61 0.086906 0.01596 NA 0.014 NA 10.0759274 644 3 179306775 179306775 C T exonic MRPL47 NA nonsynonymous SNV MRPL47:NM_177988:exon6:c.G308A:p.R103H,MRPL47:NM_020409:exon7:c.G638A:p.R213H exonic ENSG00000136522 NA nonsynonymous SNV ENSG00000136522:ENST00000392659:exon6:c.G308A:p.R103H,ENSG00000136522:ENST00000259038:exon7:c.G578A:p.R193H,ENSG00000136522:ENST00000476781:exon7:c.G638A:p.R213H NA NA 3q26.33 NA NA NA NA rs10513762 0.1 0.1 0.111 0.119808 0.0795 0.1002 0.147 0.1051 0.182 0.08 0.1 0.14 0.12 0.1008 0.23 0.13 T 0.971 D 0.424 B 0.419 N 1.000 P 0.695 N 1.43 T -1.083 T 0.001 T 0.103 -0.124 3.395 -2.01 -0.508 1.085 4.352 -0.123521 NA 0.04 0.077907 0.092147 ID=COSM149520;OCCURENCE=1(stomach) 0.167 NA 10.0751264 645 3 47282303 47282303 G A exonic KIF9 NA nonsynonymous SNV KIF9:NM_022342:exon16:c.C1717T:p.R573W,KIF9:NM_182902:exon17:c.C1912T:p.R638W,KIF9:NM_001134878:exon18:c.C1912T:p.R638W exonic ENSG00000088727 NA nonsynonymous SNV ENSG00000088727:ENST00000352910:exon15:c.C1438T:p.R480W,ENSG00000088727:ENST00000444589:exon16:c.C1717T:p.R573W,ENSG00000088727:ENST00000335044:exon17:c.C1912T:p.R638W,ENSG00000088727:ENST00000265529:exon18:c.C1912T:p.R638W,ENSG00000088727:ENST00000452770:exon18:c.C1912T:p.R638W NA NA 3p21.31 NA NA NA NA rs2276853 0.56 0.56 0.53 0.560104 0.5994 0.5357 0.5504 0.5121 0.6166 0.6 0.53 0.57 0.52 0.5723 0.6 0.03 D 0.999 D 0.785 P 0.000 D 0.000 P 1.955 M 0.57 T -0.892 T 0.000 T 0.489 3.71 18.84 1.97 0.398 0.807 9.232 3.71011 3.71011 0.02 0.587442 0.519519 ID=COSM149379;OCCURENCE=1(stomach) 0.616 NA 10.0741914 645 20 1559259 1559259 C T exonic SIRPB1 NA nonsynonymous SNV SIRPB1:NM_001083910:exon2:c.G158A:p.R53H,SIRPB1:NM_006065:exon2:c.G158A:p.R53H exonic ENSG00000101307,ENSG00000260861 NA nonsynonymous SNV ENSG00000101307:ENST00000262929:exon2:c.G155A:p.R52H,ENSG00000101307:ENST00000381603:exon2:c.G158A:p.R53H,ENSG00000101307:ENST00000381605:exon2:c.G158A:p.R53H,ENSG00000101307:ENST00000563840:exon2:c.G155A:p.R52H,ENSG00000260861:ENST00000564763:exon2:c.G158A:p.R53H,ENSG00000260861:ENST00000567028:exon2:c.G155A:p.R52H NA NA 20p13 NA NA NA NA rs2746603 0.04 0.04 0.026 0.0279553 0.0855 NA 0.0533 0.003 0.0133 0.07 NA 0.06 0.002 0.069 0.11 0.54 T 0.0 B 0.001 B 0.073 N 1.000 N 0.535 N -0.16 T -1.044 T 0.003 T 0.053 0.176 4.95 -4.72 -2.799 -3.462 7.858 0.176424 NA 0.38 0.105294 0.018898 ID=COSM443472;OCCURENCE=1(breast) 0.014 NA 10.0735394 645 10 129906674 129906674 T C exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.A2350G:p.K784E,MKI67:NM_002417:exon13:c.A3430G:p.K1144E exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.A2350G:p.K784E,ENSG00000148773:ENST00000368654:exon13:c.A3430G:p.K1144E NA NA 10q26.2 NA NA NA NA rs41300566 0.04 0.04 0.037 0.0397364 0.0944 NA 0.0648 0.0008 0.0593 0.09 0.0017 0.06 0.0041 0.0698 0.099 0.39 T 0.896 P 0.489 P . . 1.000 P 2.08 M 3.74 T -0.994 T 0.001 T 0.108 1.446 10.78 2.43 0.548 0.108 8.090 1.445892 1.445892 0.09 0.098605 0.019065 NA 0.051 NA 10.0705284 645 11 123886307 123886307 C T exonic OR10G4 NA nonsynonymous SNV OR10G4:NM_001004462:exon1:c.C26T:p.A9V exonic ENSG00000254737 NA nonsynonymous SNV ENSG00000254737:ENST00000320891:exon1:c.C26T:p.A9V NA NA 11q24.1 NA NA NA NA rs79057843 0.28 0.28 0.336 0.309505 0.4334 0.2093 0.3357 0.2587 0.3354 0.35 0.22 0.33 0.19 0.4028 0.43 0.02 D 0.0 B 0.001 B 0.326 N 1.000 P -0.48 N 5.34 T -0.943 T 0.000 T 0.019 1.15 9.683 -5.4 -2.100 -2.071 2.090 1.149889 NA 0.03 0.427774 0.298138 ID=COSM147348;OCCURENCE=1(stomach) NA NA 10.0693594 645 8 125562029 125562029 C T exonic NDUFB9 NA nonsynonymous SNV NDUFB9:NM_005005:exon4:c.C436T:p.P146S exonic ENSG00000147684 NA nonsynonymous SNV ENSG00000147684:ENST00000276689:exon4:c.C436T:p.P146S,ENSG00000147684:ENST00000517367:exon4:c.C403T:p.P135S NA NA 8q24.13 Score=893;Name=V$MYOD_01 Name=CTCF_(SC-5916),CTCF Name=7 NA rs10195 0.11 0.11 0.121 0.102835 0.0915 0.1558 0.0519 0.1309 0.0583 0.09 0.14 0.05 0.16 0.0926 0.16 0.15 T 0.007 B 0.008 B 0.360 N 1.000 P 0.84 L -0.52 T -1.061 T 0.001 T 0.084 1.608 11.33 -0.336 -0.294 -0.292 16.947 1.607689 1.607689 0.18 0.084186 0.102587 NA 0.087 NA 10.0650474 646 1 22216604 22216604 C G exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon6:c.G444C:p.L148L exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000412328:exon3:c.G212C:p.W71S Score=541;Name=lod=210 NA 1p36.12 NA NA NA NA rs2254357 0.45 0.45 0.453 0.444489 0.6839 0.3522 0.4164 0.2163 0.6217 0.67 0.35 0.45 0.24 0.577 0.68 0.91 T 0.946 P 0.509 P . . 0.000 P . . 0.56 T -1.050 T 0.000 T . 0.101 4.543 4.5 2.837 1.469 14.050 0.100844 NA 1 0.677093 0.302996 NA 0.457 NA 10.062007 646 5 52358757 52358757 G A exonic ITGA2 NA nonsynonymous SNV ITGA2:NM_002203:exon13:c.G1600A:p.E534K exonic ENSG00000164171 NA nonsynonymous SNV ENSG00000164171:ENST00000296585:exon13:c.G1600A:p.E534K,ENSG00000164171:ENST00000509814:exon13:c.G1600A:p.E534K,ENSG00000164171:ENST00000509960:exon13:c.G1600A:p.E534K,ENSG00000164171:ENST00000510722:exon13:c.G1600A:p.E534K Score=594;Name=lod=347 NA 5q11.2 NA NA NA NA rs1801106 0.11 0.11 0.113 0.104233 0.0885 0.0317 0.0663 0.2035 0.0879 0.09 0.03 0.06 0.26 0.089 0.26 0.46 T 0.0 B 0.0 B 0.000 N 1.000 P . . 1.87 T -0.944 T 0.000 T 0.101 0.702 7.743 4.8 0.513 2.980 8.798 0.701728 NA 1 0.095698 0.181344 NA 0.109 NA 10.0601354 646 12 31648826 31648826 C T exonic DENND5B NA nonsynonymous SNV DENND5B:NM_144973:exon2:c.G155A:p.R52K exonic ENSG00000170456 NA nonsynonymous SNV ENSG00000170456:ENST00000546299:exon1:c.G11A:p.R4K,ENSG00000170456:ENST00000389082:exon2:c.G155A:p.R52K,ENSG00000170456:ENST00000306833:exon3:c.G260A:p.R87K,ENSG00000170456:ENST00000354285:exon3:c.G221A:p.R74K,ENSG00000170456:ENST00000536562:exon4:c.G260A:p.R87K Score=647;Name=lod=569 NA 12p11.21 NA NA NA NA rs4930979 0.42 0.42 0.362 0.396565 0.4165 0.5734 0.6095 0.084 0.4652 0.42 0.58 0.57 0.1 0.4553 0.58 0.26 T 0.004 B 0.03 B 0.000 N 0.000 P 0.74 N 3.82 T -0.949 T 0.000 T 0.171 2.323 13.73 3.71 1.277 1.535 11.863 2.32302 2.32302 0.25 0.401543 0.125824 NA 0.384 NA 10.0599904 646 4 944210 944210 A C exonic TMEM175 NA nonsynonymous SNV TMEM175:NM_032326:exon4:c.A194C:p.Q65P exonic;splicing ENSG00000127419;ENSG00000127419 ENST00000507319:exon4:c.193-2A>C,ENST00000504744:exon5:c.398-2A>C nonsynonymous SNV ENSG00000127419:ENST00000514453:exon3:c.A155C:p.Q52P,ENSG00000127419:ENST00000264771:exon4:c.A194C:p.Q65P,ENSG00000127419:ENST00000514546:exon5:c.A194C:p.Q65P Score=378;Name=lod=46 NA 4p16.3 NA NA NA NA rs34884217 0.04 0.04 0.031 0.0321486 0.0964 0.001 0.049 0.0023 0.0266 0.08 NA 0.06 0.01 0.0703 0.11 0.27 T 0.003 B 0.005 B 0.359 N 1.000 D -0.345 N 1.0 T -1.022 T 0.001 T 0.375 -0.586 1.373 0.563 0.233 4.186 4.374 -0.585596 NA 0.18 0.107093 0.022923 NA 0.043 NA 10.0595404 646 2 232263127 232263127 G A exonic B3GNT7 NA nonsynonymous SNV B3GNT7:NM_145236:exon2:c.G697A:p.V233I exonic ENSG00000156966 NA nonsynonymous SNV ENSG00000156966:ENST00000287590:exon2:c.G697A:p.V233I NA NA 2q37.1 NA NA NA NA rs2290130 0.24 0.24 0.234 0.233227 0.2833 0.2381 0.2378 0.1551 0.2791 0.29 0.23 0.21 0.18 0.2468 0.29 0.2 T 0.954 P 0.297 B 0.010 N 1.000 P 1.63 L 1.01 T -0.996 T 0.000 T 0.057 2.2 13.31 3.84 0.988 4.133 10.276 2.200387 2.200387 0.09 0.244101 0.151344 NA 0.232 NA 10.0591324 646 3 33879770 33879770 G A exonic PDCD6IP NA nonsynonymous SNV PDCD6IP:NM_001162429:exon9:c.G1147A:p.V383I,PDCD6IP:NM_013374:exon9:c.G1132A:p.V378I exonic ENSG00000170248 NA nonsynonymous SNV ENSG00000170248:ENST00000307296:exon9:c.G1132A:p.V378I,ENSG00000170248:ENST00000457054:exon9:c.G1147A:p.V383I Score=580;Name=lod=303 NA 3p22.3 NA NA NA NA rs3203777 0.3 0.3 0.285 0.29353 0.4523 0.3442 0.2334 0.0151 0.4969 0.47 0.34 0.25 0.02 0.3795 0.47 0.25 T 0.022 B 0.056 B 0.000 N 0.000 P 0.955 L 2.03 T -0.908 T 0.000 T 0.138 3.093 16.33 4.92 2.281 8.057 11.606 3.09306 3.09306 0.21 0.443023 0.086019 ID=COSM149352;OCCURENCE=1(stomach) 0.37 NA 10.0585104 646 1 111783982 111783982 C T exonic CHI3L2 NA nonsynonymous SNV CHI3L2:NM_001025197:exon8:c.C922T:p.R308W,CHI3L2:NM_001025199:exon8:c.C715T:p.R239W,CHI3L2:NM_004000:exon9:c.C952T:p.R318W exonic ENSG00000064886 NA nonsynonymous SNV ENSG00000064886:ENST00000472825:exon2:c.C40T:p.R14W,ENSG00000064886:ENST00000497220:exon4:c.C331T:p.R111W,ENSG00000064886:ENST00000369744:exon8:c.C922T:p.R308W,ENSG00000064886:ENST00000466741:exon8:c.C715T:p.R239W,ENSG00000064886:ENST00000524472:exon8:c.C715T:p.R239W,ENSG00000064886:ENST00000369748:exon9:c.C952T:p.R318W,ENSG00000064886:ENST00000445067:exon11:c.C952T:p.R318W NA NA 1p13.3 NA NA NA NA rs13721 NA NA NA 0.108826 0.1262 0.0913 0.2493 0.0038 0.1513 NA NA NA NA 0.1495 0.087 1 T 1.0 D 0.992 D 0.041 U 1.000 N 0.48 N 3.52 T -1.037 T 0.013 T 0.247 0.325 5.762 3.59 0.444 0.388 4.273 0.324941 NA 0.22 NA NA NA 0.109 NA 10.0576334 647 2 69040500 69040500 G A exonic ARHGAP25 NA synonymous SNV ARHGAP25:NM_001166276:exon5:c.G735A:p.Q245Q,ARHGAP25:NM_001166277:exon5:c.G636A:p.Q212Q,ARHGAP25:NM_014882:exon5:c.G732A:p.Q244Q,ARHGAP25:NM_001007231:exon6:c.G756A:p.Q252Q exonic ENSG00000163219 NA synonymous SNV ENSG00000163219:ENST00000409030:exon5:c.G732A:p.Q244Q,ENSG00000163219:ENST00000409220:exon5:c.G735A:p.Q245Q,ENSG00000163219:ENST00000467265:exon5:c.G636A:p.Q212Q,ENSG00000163219:ENST00000497079:exon5:c.G735A:p.Q245Q,ENSG00000163219:ENST00000295381:exon6:c.G753A:p.Q251Q,ENSG00000163219:ENST00000409202:exon6:c.G756A:p.Q252Q,ENSG00000163219:ENST00000544262:exon6:c.G678A:p.Q226Q,ENSG00000163219:ENST00000463483:exon7:c.G678A:p.Q226Q Score=534;Name=lod=198 NA 2p13.3 Score=818;Name=V$RFX1_01 NA NA NA rs2280310 0.28 0.28 0.285 0.297724 0.1839 0.4425 0.3213 0.2927 0.2556 0.18 0.39 0.31 0.28 0.2363 0.39 . . . . . . . . 0.000 P . . . . -0.967 T 0.000 T . 1.032 9.214 3.62 1.432 0.624 12.366 1.031745 NA NA 0.192209 0.269859 ID=COSM148873;OCCURENCE=1(stomach) 0.225 NA 10.0542576 647 16 1254369 1254369 C T exonic CACNA1H NA nonsynonymous SNV CACNA1H:NM_001005407:exon10:c.C2362T:p.R788C,CACNA1H:NM_021098:exon10:c.C2362T:p.R788C exonic ENSG00000196557 NA nonsynonymous SNV ENSG00000196557:ENST00000565831:exon9:c.C2362T:p.R788C,ENSG00000196557:ENST00000348261:exon10:c.C2362T:p.R788C,ENSG00000196557:ENST00000358590:exon10:c.C2362T:p.R788C NA NA 16p13.3 NA NA NA NA rs3751664 0.07 0.07 0.077 0.0467252 0.0875 0.1012 0.0447 0.0023 0.0102 0.1 0.1 0.05 0.0041 0.0887 0.1 0.02 D 0.1 B 0.035 B 0.287 N 1.000 P 1.65 L -4.13 D -0.337 T 0.097 T 0.523 0.627 7.372 0.508 0.285 -0.310 6.816 0.627044 NA 0.05 0.103229 0.015428 NA 0.036 CLINSIG=other|non-pathogenic;CLNDBN=Epilepsy\x2c_childhood_absence_6|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000002823.1|RCV000082068.1;CLNDSDB=MedGen:OMIM|.;CLNDSDBID=C2749872:611942|. 10.0539044 647 17 66449122 66449122 G A exonic WIPI1 NA nonsynonymous SNV WIPI1:NM_017983:exon2:c.C92T:p.T31I exonic ENSG00000070540 NA nonsynonymous SNV ENSG00000070540:ENST00000262139:exon2:c.C92T:p.T31I,ENSG00000070540:ENST00000589316:exon2:c.C92T:p.T31I Score=444;Name=lod=85 NA 17q24.2 Score=762;Name=V$MIF1_01 NA Name=18 NA rs883541 0.72 0.72 0.737 0.736222 0.7634 0.5337 0.6902 0.8533 0.7914 0.77 0.56 0.7 0.85 0.7469 0.85 0.24 T 0.0 B 0.0 B 0.000 N 0.000 P -1.73 N 0.37 T -0.977 T 0.000 T 0.114 1.468 10.85 5.02 0.536 6.391 8.224 1.467786 1.467786 0.26 0.769767 0.827962 NA 0.783 NA 10.0532664 647 19 9065203 9065203 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A22243G:p.S7415G exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A22243G:p.S7415G NA NA 19p13.2 NA NA NA NA rs62118307 0.17 0.17 0.145 0.166933 0.0855 0.2679 0.183 0.1626 0.1411 0.09 0.3 0.16 0.15 0.1177 0.3 0 D 0.005 B 0.003 B . . . . 0.805 L 1.93 T -0.947 T 0.000 T 0.031 0.111 4.596 -2.82 -0.825 -1.098 3.887 0.110781 NA 0.29 0.077172 0.148395 NA 0.174 NA 10.0529614 647 17 10346781 10346781 T C exonic MYH4 NA nonsynonymous SNV MYH4:NM_017533:exon40:c.A5731G:p.K1911E exonic ENSG00000264424 NA nonsynonymous SNV ENSG00000264424:ENST00000255381:exon40:c.A5731G:p.K1911E Score=474;Name=lod=113 NA 17p13.1 NA NA NA NA rs3744554 0.52 0.52 0.453 0.533147 0.3698 0.8631 0.5245 0.3336 0.637 0.37 0.87 0.51 0.32 0.495 0.87 1 T 0.0 B 0.0 B 0.003 N 1.000 P -2.63 N -1.67 D -0.931 T 0.000 T 0.041 -0.305 2.548 4.23 0.912 1.988 12.116 -0.304632 NA NA 0.416977 0.353155 NA 0.58 NA 10.0515564 647 19 11526759 11526759 G A exonic RGL3 NA nonsynonymous SNV RGL3:NM_001035223:exon5:c.C491T:p.A164V,RGL3:NM_001161616:exon5:c.C491T:p.A164V exonic ENSG00000205517 NA nonsynonymous SNV ENSG00000205517:ENST00000567431:exon4:c.C383T:p.A128V,ENSG00000205517:ENST00000380456:exon5:c.C491T:p.A164V,ENSG00000205517:ENST00000393423:exon5:c.C491T:p.A164V,ENSG00000205517:ENST00000567080:exon5:c.C457T:p.P153S Score=417;Name=lod=66 NA 19p13.2 NA NA NA NA rs160838 0.64 0.64 0.635 0.639177 0.6014 0.6766 0.719 0.6747 0.5348 0.62 0.66 0.66 0.66 0.6067 0.71 0.32 T 0.574 P 0.184 B 0.742 N 0.987 P 0.97 L 0.7 T -0.946 T 0.000 T 0.3 1.902 12.32 2.56 0.979 2.116 8.122 1.901814 1.901814 0.02 0.576047 0.671584 NA 0.703 NA 10.0491864 647 12 15095558 15095558 C G exonic ARHGDIB NA synonymous SNV ARHGDIB:NM_001175:exon6:c.G504C:p.A168A exonic ENSG00000111348 NA synonymous SNV ENSG00000111348:ENST00000228945:exon6:c.G504C:p.A168A,ENSG00000111348:ENST00000541644:exon6:c.G504C:p.A168A,ENSG00000111348:ENST00000541546:exon7:c.G504C:p.A168A Score=563;Name=lod=259 NA 12p12.3 NA NA Name=4 NA rs4703 0.52 0.52 0.49 0.481829 0.5606 0.5714 0.5418 0.4062 0.3681 0.58 0.56 0.55 0.38 0.5273 0.58 0 D . . . . 0.000 D 0.000 P . . . . -0.942 T 0.000 T . 1.256 10.09 0.426 -0.017 1.293 2.097 1.25567 1.25567 NA 0.53 0.424875 NA 0.609 NA 10.0487666 647 2 216300482 216300482 T A exonic FN1 NA nonsynonymous SNV FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L exonic ENSG00000115414 NA nonsynonymous SNV ENSG00000115414:ENST00000323926:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000336916:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000345488:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000346544:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000354785:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000356005:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000357009:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000357867:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000359671:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000421182:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000426059:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000432072:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000443816:exon1:c.A44T:p.Q15L,ENSG00000115414:ENST00000446046:exon1:c.A44T:p.Q15L Score=369;Name=lod=42 NA 2q35 NA Name=Pol2,Pol2(b) Name=39 NA rs1250259 0.86 0.86 0.86 0.795128 0.7674 0.9246 0.7853 0.9009 0.5542 0.79 0.95 0.81 0.89 0.7691 0.95 1 T 0.007 B 0.009 B 0.088 N 1.000 P -2.015 N 2.88 T -0.961 T 0.000 T 0.109 0.764 8.042 5.35 0.873 3.387 11.474 0.764126 NA 1 0.74907 0.865577 NA 0.681 NA 10.0477634 647 19 9068530 9068530 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G18916A:p.V6306M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G18916A:p.V6306M NA NA 19p13.2 NA NA NA NA rs7250080 0.18 0.18 0.177 0.189497 0.0845 0.2679 0.1888 0.2458 0.1411 0.09 0.3 0.17 0.2 0.1235 0.3 0 D 0.96 D 0.353 B . . . . 0.695 N 1.4 T -0.971 T 0.000 T 0.018 -0.202 3.02 1.06 0.447 -1.485 4.846 -0.201996 NA 0.07 0.077605 0.218236 NA 0.188 NA 10.0477284 647 19 1055191 1055191 G A exonic ABCA7 NA nonsynonymous SNV ABCA7:NM_019112:exon30:c.G4046A:p.R1349Q exonic ENSG00000064687 NA nonsynonymous SNV ENSG00000064687:ENST00000435683:exon24:c.G3632A:p.R1211Q,ENSG00000064687:ENST00000433129:exon29:c.G4046A:p.R1349Q,ENSG00000064687:ENST00000263094:exon30:c.G4046A:p.R1349Q NA NA 19p13.3 NA NA NA NA rs3745842 0.39 0.39 0.402 0.390575 0.4205 0.3482 0.4121 0.3585 0.4315 0.44 0.38 0.43 0.32 0.4433 0.44 0.61 T 0.008 B 0.004 B . . 1.000 P -1.1 N -3.46 D -1.065 T 0.000 T 0.024 -0.079 3.615 -5.26 -1.084 -2.995 10.516 -0.078683 NA 0.44 0.422098 0.376024 NA 0.254 NA 10.0474354 647 15 27772676 27772676 C T exonic GABRG3 NA synonymous SNV GABRG3:NM_033223:exon8:c.C963T:p.T321T exonic ENSG00000182256 NA synonymous SNV ENSG00000182256:ENST00000333743:exon8:c.C963T:p.T321T Score=541;Name=lod=211 NA 15q12 NA Name=Rad21,CTCF NA NA rs140679 0.54 0.54 0.527 0.516374 0.5467 0.6577 0.6844 0.3026 0.5092 0.54 0.69 0.66 0.3 0.5373 0.69 . . . . . . . . 0.000 P . . . . -1.149 T 0.000 T . 1.175 9.78 -8.26 -2.099 -1.707 18.838 1.175068 NA NA 0.535547 0.310861 NA 0.522 NA 10.0471196 647 1 165532746 165532746 T A exonic LRRC52 NA nonsynonymous SNV LRRC52:NM_001005214:exon2:c.T627A:p.D209E exonic ENSG00000162763 NA nonsynonymous SNV ENSG00000162763:ENST00000294818:exon2:c.T627A:p.D209E NA NA 1q24.1 NA NA NA NA rs17407838 0.07 0.07 0.07 0.0585064 0.1034 NA 0.062 0.1006 0.0133 0.1 NA 0.06 0.1 0.0784 0.11 1 T 0.0 B 0.0 B 0.102 N 0.994 P 0 N -0.12 T -1.046 T 0.018 T 0.02 -2.044 0.006 -8.56 -3.350 -4.590 4.737 -2.043824 NA NA 0.105233 0.093282 NA 0.065 NA 10.0463004 648 5 180039606 180039606 C T exonic FLT4 NA nonsynonymous SNV FLT4:NM_002020:exon26:c.G3437A:p.R1146H,FLT4:NM_182925:exon26:c.G3437A:p.R1146H exonic ENSG00000037280 NA nonsynonymous SNV ENSG00000037280:ENST00000261937:exon26:c.G3437A:p.R1146H,ENSG00000037280:ENST00000393347:exon26:c.G3437A:p.R1146H,ENSG00000037280:ENST00000502649:exon26:c.G3437A:p.R1146H Score=491;Name=lod=132 NA 5q35.3 NA Name=CTCF NA NA rs1130379 0.05 0.05 0.047 0.0341454 0.1173 NA 0.0288 0.003 0.0297 0.13 NA 0.03 0.0041 0.0757 0.13 0.2 T 0.004 B 0.005 B . . 0.995 P 0.805 L -2.48 D -0.948 T 0.009 T 0.105 0.715 7.806 -0.631 -0.027 0.885 8.402 0.714752 NA 0.27 0.1 0.021562 NA NA NA 10.0403334 648 12 9750669 9750669 A G exonic KLRB1 NA nonsynonymous SNV KLRB1:NM_002258:exon5:c.T503C:p.I168T exonic ENSG00000111796 NA nonsynonymous SNV ENSG00000111796:ENST00000229402:exon5:c.T503C:p.I168T Score=343;Name=lod=33 NA 12p13.31 NA NA NA NA rs1135816 0.4 0.4 0.363 0.403954 0.4205 0.5317 0.5029 0.1475 0.5317 0.43 0.52 0.44 0.16 0.446 0.52 0.03 D 0.953 P 0.802 P 0.005 N 0.948 P 1.31 L 1.76 T -0.921 T 0.000 T 0.093 1.803 11.99 1.91 0.577 2.636 4.821 1.802709 1.802709 0 0.427906 0.170527 NA 0.341 NA 10.0389274 648 1 89522646 89522646 G C exonic GBP1 NA nonsynonymous SNV GBP1:NM_002053:exon7:c.C1046G:p.T349S exonic ENSG00000117228 NA nonsynonymous SNV ENSG00000117228:ENST00000370473:exon7:c.C1046G:p.T349S Score=437;Name=lod=80 NA 1p22.2 NA NA NA NA rs1048425 0.7 0.7 0.71 0.718251 0.7654 0.5595 0.6138 0.7958 0.8027 0.76 0.54 0.68 0.78 0.7451 0.81 0.06 T 0.254 B 0.438 B 0.000 N 1.000 P 3.09 M 3.92 T -1.185 T 0.020 T 0.062 2.046 12.8 3.89 1.026 2.002 12.960 2.046072 2.046072 0.03 0.784419 0.812755 ID=COSM1344744;OCCURENCE=1(large_intestine) 0.616 NA 10.0384144 648 3 141162128 141162128 C G exonic ZBTB38 NA nonsynonymous SNV ZBTB38:NM_001080412:exon8:c.C898G:p.P300A exonic ENSG00000177311 NA nonsynonymous SNV ENSG00000177311:ENST00000321464:exon2:c.C901G:p.P301A,ENSG00000177311:ENST00000441582:exon2:c.C898G:p.P300A,ENSG00000177311:ENST00000509883:exon3:c.C898G:p.P300A,ENSG00000177311:ENST00000514251:exon4:c.C898G:p.P300A NA NA 3q23 NA NA NA NA rs62282002 0.13 0.13 0.11 0.111222 0.0915 0.2192 0.2046 0.0053 0.0971 0.09 0.26 0.18 0.01 0.1153 0.26 . . 0.104 B 0.058 B 0.230 N 1.000 P 0.695 N 3.39 T -0.911 T 0.000 T 0.198 -0.637 1.183 5.28 2.611 1.548 7.196 -0.637454 NA 1 0.0887 0.019474 NA 0.058 NA 10.0378334 648 19 56733425 56733425 C A exonic ZSCAN5A NA nonsynonymous SNV ZSCAN5A:NM_024303:exon5:c.G1010T:p.G337V exonic ENSG00000131848 NA nonsynonymous SNV ENSG00000131848:ENST00000254165:exon5:c.G659T:p.G220V,ENSG00000131848:ENST00000391713:exon5:c.G1010T:p.G337V,ENSG00000131848:ENST00000587492:exon5:c.G572T:p.G191V,ENSG00000131848:ENST00000592355:exon5:c.G1007T:p.G336V,ENSG00000131848:ENST00000587340:exon7:c.G1010T:p.G337V NA NA 19q13.43 NA Name=CTCF NA NA rs34187696 0.2 0.2 0.183 0.160144 0.2813 0.1806 0.1542 0.0454 0.1738 0.28 0.2 0.17 0.07 0.225 0.29 0.33 T 0.993 D 0.881 P . . 1.000 P 2.34 M 3.16 T -0.976 T 0.000 T 0.047 2.151 13.15 0.561 0.181 -0.082 5.376 2.151177 2.151177 0.01 0.289767 0.080799 ID=COSM148772;OCCURENCE=1(stomach) 0.225 NA 10.0372664 648 3 33194990 33194990 C A exonic SUSD5 NA nonsynonymous SNV SUSD5:NM_015551:exon5:c.G1134T:p.E378D exonic ENSG00000173705 NA nonsynonymous SNV ENSG00000173705:ENST00000309558:exon5:c.G1134T:p.E378D NA NA 3p22.3 Score=943;Name=V$MEIS1_01 NA NA NA rs6810039 0.63 0.63 0.614 0.659944 0.3936 0.8542 0.6441 0.7307 0.6493 0.41 0.89 0.57 0.74 0.5157 0.89 0.77 T 0.0 B 0.0 B 0.002 N 1.000 P -2.015 N 3.36 T -0.952 T 0.000 T 0.024 -0.407 2.099 -9.81 -2.418 -0.950 8.356 -0.406519 NA 1 0.386788 0.692878 NA 0.58 NA 10.0372454 648 13 52365354 52365354 G T exonic DHRS12 NA nonsynonymous SNV DHRS12:NM_001031719:exon3:c.C166A:p.Q56K,DHRS12:NM_024705:exon3:c.C166A:p.Q56K,DHRS12:NM_001270424:exon4:c.C313A:p.Q105K exonic ENSG00000102796 NA nonsynonymous SNV ENSG00000102796:ENST00000218981:exon3:c.C166A:p.Q56K,ENSG00000102796:ENST00000280056:exon3:c.C166A:p.Q56K,ENSG00000102796:ENST00000444610:exon4:c.C313A:p.Q105K Score=313;Name=lod=25 NA 13q14.3 NA NA NA NA rs61729904 0.07 0.07 0.054 0.0692891 0.0934 0.0516 0.1816 0.0076 0.0665 0.09 0.05 0.16 0.01 0.0932 0.16 0.07 T 0.007 B 0.032 B 0.108 N 1.000 P 1.805 L 2.93 T -1.036 T 0.000 T 0.05 -2.518 0.003 -5.96 -1.351 -0.138 1.257 -2.518055 NA 0.68 0.111395 0.021562 NA 0.036 NA 10.0353384 649 8 17419539 17419539 G A exonic SLC7A2 NA nonsynonymous SNV SLC7A2:NM_001008539:exon10:c.G1591A:p.A531T,SLC7A2:NM_001164771:exon10:c.G1711A:p.A571T,SLC7A2:NM_003046:exon10:c.G1708A:p.A570T exonic ENSG00000003989 NA nonsynonymous SNV ENSG00000003989:ENST00000004531:exon10:c.G1711A:p.A571T,ENSG00000003989:ENST00000398090:exon10:c.G1708A:p.A570T,ENSG00000003989:ENST00000522656:exon10:c.G1591A:p.A531T,ENSG00000003989:ENST00000494857:exon11:c.G1591A:p.A531T,ENSG00000003989:ENST00000470360:exon12:c.G1708A:p.A570T NA NA 8p22 NA Name=Pol2 NA NA rs62622371 0.04 0.04 0.027 0.0261581 0.0865 NA 0.0403 0.0053 0.0092 0.08 NA 0.04 0.0041 0.0885 0.12 0.17 T 0.012 B 0.005 B 0.431 N 1.000 N 0.975 L -2.25 D -0.997 T 0.015 T 0.066 1.736 11.76 1.89 0.759 1.796 7.910 1.735861 1.735861 0.49 0.12407 0.024739 NA 0.065 NA 10.0342634 649 7 50514577 50514577 C T exonic FIGNL1 NA nonsynonymous SNV FIGNL1:NM_001042762:exon4:c.G409A:p.V137M,FIGNL1:NM_022116:exon4:c.G409A:p.V137M exonic ENSG00000132436 NA nonsynonymous SNV ENSG00000132436:ENST00000419119:exon2:c.G409A:p.V137M,ENSG00000132436:ENST00000356889:exon4:c.G409A:p.V137M,ENSG00000132436:ENST00000395556:exon4:c.G409A:p.V137M,ENSG00000132436:ENST00000433017:exon4:c.G409A:p.V137M NA NA 7p12.1 NA Name=CEBPB,GTF2F1_(RAP-74),p300,FOXA2_(SC-6554),BCL11A,MEF2A,IRF4_(M-17),TCF4,MEF2C_(SC-13268),p300_(N-15),Pol2-4H8,STAT3,JunD Name=120 NA rs10235371 0.07 0.07 0.082 0.063099 0.1153 0.0377 0.0836 0.0446 0.046 0.1 0.04 0.08 0.07 0.0815 0.1 0.11 T 0.437 B 0.115 B 0.342 N 1.000 P 1.59 L 1.96 T -1.091 T 0.001 T 0.032 1.642 11.45 -4.56 -0.842 0.561 10.055 1.642477 1.642477 0.03 0.10407 0.046754 NA 0.152 NA 10.0324634 649 16 15098047 15098047 C G exonic PDXDC1 NA nonsynonymous SNV PDXDC1:NM_015027:exon5:c.C246G:p.I82M exonic ENSG00000179889 NA nonsynonymous SNV ENSG00000179889:ENST00000450288:exon4:c.C162G:p.I54M,ENSG00000179889:ENST00000569715:exon4:c.C165G:p.I55M,ENSG00000179889:ENST00000325823:exon5:c.C201G:p.I67M,ENSG00000179889:ENST00000396410:exon5:c.C246G:p.I82M,ENSG00000179889:ENST00000455313:exon5:c.C246G:p.I82M,ENSG00000179889:ENST00000535621:exon5:c.C246G:p.I82M,ENSG00000179889:ENST00000563522:exon5:c.C201G:p.I67M,ENSG00000179889:ENST00000563679:exon5:c.C300G:p.I100M,ENSG00000179889:ENST00000567306:exon5:c.C201G:p.I67M Score=667;Name=lod=683 NA 16p13.11 NA NA NA NA rs11549900 0.3 0.3 0.228 NA NA NA NA NA NA 0.26 0.44 0.38 0.13 0.304 0.44 0.16 T 0.048 B 0.025 B 0.003 N 0.000 P 0 N 2.07 T -0.914 T 0.000 T 0.394 0.416 6.258 2.76 0.455 1.821 9.103 0.415784 NA 0.14 NA NA NA 0.138 NA 10.0293334 649 10 115457264 115457264 T G exonic CASP7 NA nonsynonymous SNV CASP7:NM_001227:exon2:c.T12G:p.D4E,CASP7:NM_001267056:exon2:c.T12G:p.D4E,CASP7:NM_001267057:exon2:c.T236G:p.I79S,CASP7:NM_033340:exon2:c.T12G:p.D4E,CASP7:NM_033338:exon3:c.T111G:p.D37E,CASP7:NM_033339:exon3:c.T12G:p.D4E exonic ENSG00000165806 NA nonsynonymous SNV ENSG00000165806:ENST00000369318:exon2:c.T12G:p.D4E,ENSG00000165806:ENST00000369331:exon2:c.T12G:p.D4E,ENSG00000165806:ENST00000429617:exon2:c.T12G:p.D4E,ENSG00000165806:ENST00000345633:exon3:c.T12G:p.D4E,ENSG00000165806:ENST00000369315:exon3:c.T12G:p.D4E,ENSG00000165806:ENST00000369321:exon3:c.T111G:p.D37E NA NA 10q25.3 NA NA NA NA rs11555408 0.11 0.11 0.109 0.105631 0.1044 0.0883 0.0807 0.146 0.0879 0.11 0.08 0.09 0.15 0.0971 0.15 0.28 T 0.865 P 0.476 P 0.103 N 0.888 P 1.935 M 4.37 T -1.026 T 0.000 T 0.121 2.221 13.38 2.04 0.317 0.009 5.734 2.220932 2.220932 0 0.103721 0.123014 NA 0.087 NA 10.0281124 649 16 20648702 20648702 G A exonic ACSM1 NA synonymous SNV ACSM1:NM_052956:exon8:c.C1188T:p.Y396Y exonic ENSG00000166743 NA synonymous SNV ENSG00000166743:ENST00000219151:exon8:c.C45T:p.Y15Y,ENSG00000166743:ENST00000307493:exon8:c.C1188T:p.Y396Y,ENSG00000166743:ENST00000520010:exon9:c.C1188T:p.Y396Y NA NA 16p12.3 NA Name=CTCF NA NA rs151328 0.31 0.31 0.316 0.346845 0.1799 0.3512 0.1916 0.5416 0.3609 0.2 0.34 0.2 0.52 0.2598 0.52 . . . . . . . . 1.000 P . . . . -1.125 T 0.000 T . -1.451 0.019 -9.12 -1.806 -2.456 17.329 -1.451414 NA NA 0.200698 0.494548 NA 0.355 NA 10.0262686 649 1 55541174 55541174 A G exonic USP24 NA nonsynonymous SNV USP24:NM_015306:exon63:c.T7403C:p.V2468A exonic ENSG00000162402 NA nonsynonymous SNV ENSG00000162402:ENST00000407756:exon60:c.T6923C:p.V2308A,ENSG00000162402:ENST00000294383:exon63:c.T7403C:p.V2468A Score=590;Name=lod=333 NA 1p32.3 NA NA NA NA rs487230 0.7 0.7 0.681 0.692292 0.7714 0.9187 0.8473 0.2648 0.8456 0.76 0.9 0.82 0.3 0.7697 0.9 0.86 T 0.0 B 0.001 B 0.001 D 0.695 P -0.205 N 4.46 T -1.024 T 0.000 T 0.217 1.955 12.49 4.22 1.158 5.139 11.412 1.954963 1.954963 0.23 0.76709 0.356754 NA 0.667 NA 10.0251434 650 22 50319079 50319079 T G exonic CRELD2 NA nonsynonymous SNV CRELD2:NM_024324:exon9:c.T883G:p.S295A,CRELD2:NM_001135101:exon10:c.T1030G:p.S344A exonic ENSG00000184164 NA nonsynonymous SNV ENSG00000184164:ENST00000403427:exon8:c.T799G:p.S267A,ENSG00000184164:ENST00000407217:exon8:c.T787G:p.S263A,ENSG00000184164:ENST00000328268:exon9:c.T883G:p.S295A,ENSG00000184164:ENST00000404488:exon10:c.T1030G:p.S344A Score=349;Name=lod=35 NA 22q13.33 NA Name=EBF NA NA rs11545762 0.08 0.08 0.068 0.067492 0.1193 0.0546 0.0735 0.0045 0.1084 0.13 0.06 0.09 0.01 0.0931 0.13 0.66 T 0.256 B 0.058 B 0.270 N 1.000 P 0.355 N -2.77 D -0.935 T 0.009 T 0.194 0.579 7.126 0.735 0.103 0.626 13.933 0.579015 NA 0.37 0.096744 0.020654 ID=COSM149318;OCCURENCE=1(stomach) 0.167 NA 10.0241894 650 4 71024099 71024099 A G exonic C4orf40 NA nonsynonymous SNV C4orf40:NM_214711:exon3:c.A130G:p.I44V exonic ENSG00000187533 NA nonsynonymous SNV ENSG00000187533:ENST00000344526:exon3:c.A130G:p.I44V,ENSG00000187533:ENST00000502294:exon4:c.A130G:p.I44V NA NA 4q13.3 NA NA NA NA rs1612460 0.05 0.05 0.043 0.0385383 0.1133 0.002 0.0648 0.003 0.0286 0.12 0.0035 0.07 NA 0.0801 0.12 1 T 0.147 B 0.124 B . . 1.000 P 0.345 N 1.47 T -1.026 T 0.001 T 0.047 -0.334 2.416 -3.16 -1.081 -1.545 2.897 -0.334292 NA 0.09 0.116163 0.021788 NA 0.145 NA 10.0237704 650 4 79300993 79300993 G A exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_001166133:exon27:c.G3406A:p.E1136K,FRAS1:NM_025074:exon27:c.G3406A:p.E1136K exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon27:c.G3406A:p.E1136K,ENSG00000138759:ENST00000325942:exon27:c.G3406A:p.E1136K NA NA 4q21.21 NA NA NA NA rs12512164 0.23 0.23 0.195 0.213259 0.2704 0.2173 0.3487 0.1195 0.181 0.27 0.22 0.32 0.13 0.2644 0.32 0.38 T 0.87 P 0.119 B 0.012 N 1.000 P 1.39 L -1.0 T -1.026 T 0.000 T 0.144 -0.046 3.779 3.55 1.351 3.882 7.925 -0.046038 NA 0.21 0.274787 0.148384 ID=COSM1131043,COSM1131042,COSM1131044;OCCURENCE=1(prostate) 0.297 NA 10.0237464 650 21 46021179 46021179 C A exonic KRTAP10-7 NA nonsynonymous SNV KRTAP10-7:NM_198689:exon2:c.C643A:p.Q215K exonic ENSG00000205441 NA nonsynonymous SNV ENSG00000205441:ENST00000380102:exon1:c.C658A:p.Q220K Score=383;Name=lod=48 NA 21q22.3 NA NA NA NA rs363877 0.75 0.75 0.79 0.774561 0.9354 0.8234 0.9121 0.5408 0.7771 0.88 0.73 0.84 0.51 0.8746 0.88 0.17 T 0.886 P 0.298 B . . 0.000 P 3.32 M 4.8 T -1.045 T 0.000 T 0.315 1.171 9.765 2.77 1.804 0.149 8.906 1.17101 NA 0.15 NA NA NA 0.022 NA 10.0233334 650 2 26799031 26799031 G A exonic C2orf70 NA synonymous SNV C2orf70:NM_001105519:exon2:c.G336A:p.T112T exonic ENSG00000173557 NA nonsynonymous SNV ENSG00000173557:ENST00000409392:exon3:c.G298A:p.E100K NA NA 2p23.3 NA NA NA NA rs2272464 0.35 0.35 0.332 0.359824 0.336 0.623 0.232 0.1785 0.4489 0.34 0.6 0.21 0.2 0.3436 0.6 0 D . . . . . . 0.000 P . . . . -0.997 T 0.000 T . 0.784 8.134 -9.61 -3.293 -3.581 1.425 0.783761 NA NA 0.297768 0.184832 NA 0.326 NA 10.022632 650 11 118967758 118967758 T C exonic DPAGT1 NA nonsynonymous SNV DPAGT1:NM_001382:exon9:c.A1177G:p.I393V exonic ENSG00000172269 NA nonsynonymous SNV ENSG00000172269:ENST00000432443:exon7:c.A934G:p.I312V,ENSG00000172269:ENST00000354202:exon9:c.A1177G:p.I393V,ENSG00000172269:ENST00000409993:exon11:c.A1177G:p.I393V NA NA 11q23.3 NA NA NA NA rs643788 0.43 0.43 0.415 0.433307 0.4563 0.631 0.2983 0.2844 0.5031 0.44 0.62 0.35 0.24 0.4215 0.62 0.61 T 0.0 B 0.002 B 0.880 N 1.000 P 0.41 N -2.63 D -0.977 T 0.000 T 0.038 -1.647 0.012 -4.23 -0.993 -0.320 2.110 -1.64735 NA 0.45 0.433411 0.297045 NA 0.471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079665.2;CLNDSDB=.;CLNDSDBID=. 10.0221224 650 6 32363816 32363816 T C exonic BTNL2 NA nonsynonymous SNV BTNL2:NM_019602:exon5:c.A1078G:p.S360G exonic ENSG00000204290 NA nonsynonymous SNV ENSG00000204290:ENST00000414363:exon3:c.A448G:p.S150G,ENSG00000204290:ENST00000540315:exon3:c.A448G:p.S150G,ENSG00000204290:ENST00000544175:exon4:c.A247G:p.S83G,ENSG00000204290:ENST00000374993:exon5:c.A1078G:p.S360G,ENSG00000204290:ENST00000374995:exon5:c.A796G:p.S266G,ENSG00000204290:ENST00000454136:exon5:c.A1078G:p.S360G Score=304;Name=lod=23 Name=Sarcoidosis 6p21.32 NA NA NA NA rs2076530 0.38 0.38 0.377 0.386981 0.4473 0.2917 0.4841 0.3275 0.4346 0.43 0.34 0.49 0.25 0.426 0.49 . . 0.0 B 0.0 B 0.064 N 0.000 P -2.025 N 4.47 T -0.975 T 0.001 T 0.056 -0.875 0.492 3.36 0.783 1.798 7.002 -0.875 NA 1 0.438354 0.32273 NA 0.42 NA 10.0216794 650 7 123256427 123256427 C T exonic ASB15 NA nonsynonymous SNV ASB15:NM_080928:exon4:c.C170T:p.P57L exonic ENSG00000146809 NA nonsynonymous SNV ENSG00000146809:ENST00000275699:exon4:c.C170T:p.P57L,ENSG00000146809:ENST00000447789:exon4:c.C170T:p.P57L,ENSG00000146809:ENST00000540573:exon4:c.C170T:p.P57L,ENSG00000146809:ENST00000434204:exon5:c.C170T:p.P57L,ENSG00000146809:ENST00000437535:exon5:c.C170T:p.P57L,ENSG00000146809:ENST00000451215:exon6:c.C170T:p.P57L,ENSG00000146809:ENST00000451558:exon8:c.C170T:p.P57L Score=509;Name=lod=156 NA 7q31.32 NA NA Name=27 NA rs6962756 0.77 0.77 0.767 0.779353 0.7664 0.7927 0.6412 0.8139 0.8303 0.77 0.78 0.72 0.79 0.7785 0.82 0.73 T 0.0 B 0.0 B 0.058 N 0.998 P -0.695 N 2.4 T -0.965 T 0.000 T 0.376 0.862 8.492 5.94 1.075 1.201 5.071 0.862144 NA 0.38 0.768023 0.819255 NA 0.609 NA 10.0204104 650 4 123280860 123280860 T C exonic KIAA1109 NA synonymous SNV KIAA1109:NM_015312:exon83:c.T14784C:p.H4928H exonic ENSG00000138688 NA synonymous SNV ENSG00000138688:ENST00000438707:exon29:c.T4791C:p.H1597H,ENSG00000138688:ENST00000388738:exon83:c.T14784C:p.H4928H,ENSG00000138688:ENST00000264501:exon85:c.T14784C:p.H4928H Score=613;Name=lod=415 NA 4q27 NA NA NA NA rs1127348 0.14 0.14 0.118 0.121805 0.2416 0.123 0.1311 0.0068 0.1462 0.24 0.13 0.14 0.01 0.1913 0.24 . . . . . . . . 0.000 P . . . . -1.081 T 0.000 T . 0.637 7.423 5.94 2.282 2.379 12.246 0.637044 NA NA 0.215332 0.038378 ID=COSM1426709;OCCURENCE=1(large_intestine) 0.116 NA 10.0184346 650 5 37182902 37182902 G A exonic C5orf42 NA nonsynonymous SNV C5orf42:NM_023073:exon26:c.C5381T:p.P1794L exonic ENSG00000197603 NA nonsynonymous SNV ENSG00000197603:ENST00000509849:exon11:c.C2396T:p.P799L,ENSG00000197603:ENST00000514429:exon11:c.C2525T:p.P842L,ENSG00000197603:ENST00000508244:exon25:c.C5381T:p.P1794L,ENSG00000197603:ENST00000274258:exon26:c.C2024T:p.P675L,ENSG00000197603:ENST00000425232:exon26:c.C5381T:p.P1794L NA NA 5p13.2 NA NA NA NA rs75589774 0.08 0.08 0.069 0.0948482 0.0954 0.0665 0.1326 0.0832 0.1125 0.09 0.02 0.15 0.09 0.1109 0.15 1 T 0.383 B 0.155 B 0.076 N 0.998 P 0.345 N 2.28 T -1.038 T 0.000 T 0.313 2.505 14.34 4.8 2.379 2.926 7.747 2.505049 2.505049 1 0.109419 0.082842 NA 0.029 NA 10.0176144 650 12 21713402 21713402 T C exonic GYS2 NA nonsynonymous SNV GYS2:NM_021957:exon8:c.A1087G:p.M363V exonic ENSG00000111713 NA nonsynonymous SNV ENSG00000111713:ENST00000261195:exon8:c.A1087G:p.M363V Score=536;Name=lod=202 NA 12p12.1 NA Name=GR Name=66 NA rs2306180 0.75 0.75 0.73 0.740615 0.7704 0.7629 0.7579 0.6407 0.8098 0.79 0.77 0.75 0.68 0.7686 0.79 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.19 N 0.55 T -0.928 T 0.000 T 0.053 -0.588 1.365 3.98 0.675 2.620 10.364 -0.587682 NA 1 0.776744 0.67635 NA 0.609 NA 10.0175894 651 4 40119501 40119501 T C exonic N4BP2 NA synonymous SNV N4BP2:NM_018177:exon8:c.T1677C:p.H559H exonic ENSG00000078177 NA synonymous SNV ENSG00000078177:ENST00000261435:exon8:c.T1677C:p.H559H Score=573;Name=lod=284 NA 4p14 Score=829;Name=V$FREAC3_01 NA NA NA rs1128372 0.13 0.13 0.09 0.113618 0.2207 0.0208 0.255 0.0106 0.138 0.23 0.02 0.27 0.01 0.2006 0.27 . . . . . . . . 0.000 P . . . . -1.122 T 0.000 T . 0.193 5.04 4.11 0.322 2.177 12.694 0.193016 NA NA 0.230465 0.04857 NA 0.058 NA 10.0149016 651 6 32362703 32362703 G T exonic BTNL2 NA nonsynonymous SNV BTNL2:NM_019602:exon6:c.C1178A:p.P393Q exonic ENSG00000204290 NA nonsynonymous SNV ENSG00000204290:ENST00000414363:exon4:c.C548A:p.P183Q,ENSG00000204290:ENST00000540315:exon4:c.C548A:p.P183Q,ENSG00000204290:ENST00000544175:exon5:c.C347A:p.P116Q,ENSG00000204290:ENST00000374993:exon6:c.C1178A:p.P393Q,ENSG00000204290:ENST00000374995:exon6:c.C896A:p.P299Q,ENSG00000204290:ENST00000454136:exon6:c.C1178A:p.P393Q NA NA 6p21.32 Score=941;Name=V$NMYC_01 NA NA NA rs41521946 0.12 0.12 NA 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.11 0.15 0.15 0.09 0.1547 0.15 1 T 0.0 B 0.001 B 0.066 N 1.000 P -2.925 N -0.79 T -0.975 T 0.016 T 0.159 -2.27 0.004 2.67 0.971 0.414 4.221 -2.270351 NA 0.53 0.00186 0.002497 NA NA NA 10.0137734 651 15 100269635 100269635 G C exonic LYSMD4 NA nonsynonymous SNV LYSMD4:NM_152449:exon6:c.C587G:p.T196S exonic ENSG00000183060 NA nonsynonymous SNV ENSG00000183060:ENST00000409796:exon3:c.C584G:p.T195S,ENSG00000183060:ENST00000332728:exon4:c.C584G:p.T195S,ENSG00000183060:ENST00000545021:exon4:c.C206G:p.T69S,ENSG00000183060:ENST00000344791:exon6:c.C587G:p.T196S NA NA 15q26.3 NA NA NA NA rs72760587 0.13 0.13 0.105 0.148363 0.1093 0.2054 0.2363 0.1059 0.1247 0.11 0.18 0.18 0.08 0.114 0.18 0.48 T 0.063 B 0.037 B 0.375 N 1.000 P 1.415 L 2.0 T -1.022 T 0.000 T 0.058 0.026 4.146 4.2 1.129 4.356 11.926 0.02552 NA 0.5 0.098488 0.108942 ID=COSM147991;OCCURENCE=1(stomach) 0.13 NA 10.0115454 651 11 124006972 124006972 G T exonic VWA5A NA nonsynonymous SNV VWA5A:NM_014622:exon12:c.G1496T:p.S499I,VWA5A:NM_001130142:exon13:c.G1496T:p.S499I exonic ENSG00000110002 NA nonsynonymous SNV ENSG00000110002:ENST00000392748:exon12:c.G1496T:p.S499I,ENSG00000110002:ENST00000456829:exon13:c.G1496T:p.S499I Score=340;Name=lod=32 NA 11q24.2 NA NA NA NA rs2276054 0.11 0.11 0.124 0.122204 0.1014 0.0585 0.0764 0.1952 0.1431 0.11 0.05 0.1 0.2 0.1147 0.2 0.87 T 0.0 B 0.0 B 0.344 N 0.000 P -1.725 N 3.99 T -0.977 T 0.000 T 0.051 -0.462 1.862 5.35 0.868 3.428 10.829 -0.462433 NA 1 0.107118 0.170831 NA 0.181 NA 10.0101154 651 3 53700550 53700550 T C exonic CACNA1D NA synonymous SNV CACNA1D:NM_000720:exon7:c.T1104C:p.D368D,CACNA1D:NM_001128839:exon7:c.T1104C:p.D368D,CACNA1D:NM_001128840:exon7:c.T1104C:p.D368D exonic ENSG00000157388 NA synonymous SNV ENSG00000157388:ENST00000481478:exon1:c.T123C:p.D41D,ENSG00000157388:ENST00000288139:exon7:c.T1104C:p.D368D,ENSG00000157388:ENST00000350061:exon7:c.T1104C:p.D368D,ENSG00000157388:ENST00000422281:exon7:c.T1104C:p.D368D Score=663;Name=lod=657 NA 3p21.1 Score=884;Name=V$TAL1ALPHAE47_01 NA NA NA rs2250736 0.66 0.66 0.684 0.70647 0.5298 0.6548 0.6081 0.9304 0.7086 0.52 0.66 0.58 0.91 0.5945 0.91 . . . . . . . . 0.000 P . . . . -1.106 T 0.000 T . -0.494 1.733 -7.67 -1.886 -1.895 16.490 -0.493554 NA NA 0.533488 0.86995 NA 0.768 NA 10.0088786 651 16 624114 624114 A G exonic PIGQ NA nonsynonymous SNV PIGQ:NM_004204:exon2:c.A40G:p.T14A,PIGQ:NM_148920:exon2:c.A40G:p.T14A exonic ENSG00000007541 NA nonsynonymous SNV ENSG00000007541:ENST00000026218:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000321878:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000409439:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000422307:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000443147:exon2:c.A82G:p.T28A,ENSG00000007541:ENST00000470411:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000293874:exon3:c.A40G:p.T14A,ENSG00000007541:ENST00000409527:exon3:c.A40G:p.T14A,ENSG00000007541:ENST00000439574:exon3:c.A40G:p.T14A NA NA 16p13.3 Score=770;Name=V$TCF11MAFG_01 NA NA NA rs2071979 0.52 0.52 0.468 0.531949 0.4264 0.6359 0.4914 0.4871 0.6227 0.45 0.63 0.5 0.52 0.4908 0.63 0.75 T 0.001 B 0.0 B 0.000 N 1.000 P -1.955 N 2.65 T -0.968 T 0.000 T 0.159 -0.532 1.577 5.17 1.192 7.784 13.025 -0.532487 NA 1 0.407791 0.478646 NA 0.37 NA 10.0083424 651 3 10311939 10311939 C T exonic TATDN2 NA nonsynonymous SNV TATDN2:NM_014760:exon4:c.C1073T:p.P358L exonic ENSG00000157014,ENSG00000272410 NA nonsynonymous SNV ENSG00000272410:ENST00000437082:exon3:c.C902T:p.P301L,ENSG00000157014:ENST00000287652:exon4:c.C1073T:p.P358L,ENSG00000157014:ENST00000448281:exon4:c.C1073T:p.P358L Score=265;Name=lod=16 NA 3p25.3 NA NA NA NA rs2075352 0.18 0.18 0.181 0.179313 0.1044 0.2768 0.0778 0.2625 0.1155 0.1 0.28 0.08 0.27 0.1253 0.28 0.14 T 0.154 B 0.006 B 0.367 N 0.876 P 1.61 L 0.86 T -1.070 T 0.000 T 0.082 0.371 6.013 4.73 2.353 0.912 10.845 0.370799 NA 0.15 0.095698 0.245801 NA 0.203 NA 10.0079354 651 1 24421474 24421474 G A exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon9:c.C797T:p.T266M exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon9:c.C797T:p.T266M,ENSG00000142661:ENST00000330966:exon9:c.C800T:p.T267M,ENSG00000142661:ENST00000374434:exon9:c.C797T:p.T266M NA NA 1p36.11 Score=740;Name=V$MEF2_04 Name=CTCF NA NA rs6678540 0.38 0.38 0.354 0.319888 0.4771 0.3383 0.2911 0.2746 0.2209 0.51 0.31 0.32 0.29 0.3942 0.51 0.62 T 0.002 B 0.004 B 0.125 N 1.000 P -0.69 N 0.53 T -0.919 T 0.000 T 0.079 0.661 7.54 4.06 0.810 2.024 7.292 0.660523 NA 0.22 0.454954 0.271711 NA 0.217 NA 10.0070794 651 13 113530199 113530199 G A exonic ATP11A NA nonsynonymous SNV ATP11A:NM_015205:exon28:c.G3271A:p.V1091I,ATP11A:NM_032189:exon28:c.G3271A:p.V1091I exonic ENSG00000068650 NA nonsynonymous SNV ENSG00000068650:ENST00000415301:exon1:c.G77A:p.R26H,ENSG00000068650:ENST00000419631:exon3:c.G247A:p.V83I,ENSG00000068650:ENST00000283558:exon28:c.G3271A:p.V1091I,ENSG00000068650:ENST00000375630:exon28:c.G3271A:p.V1091I,ENSG00000068650:ENST00000375645:exon28:c.G3271A:p.V1091I,ENSG00000068650:ENST00000487903:exon28:c.G3271A:p.V1091I Score=541;Name=lod=211 NA 13q34 NA NA NA NA rs11616795 0.08 0.08 0.06 0.0820687 0.1272 0.0853 0.098 0.0129 0.1145 0.1 0.07 0.1 0.02 0.0933 0.11 0.53 T 0.0 B 0.002 B 0.000 D 0.001 P 0.735 N 0.29 T -1.064 T 0.003 T 0.186 0.711 7.79 1.59 0.446 4.185 10.924 0.711346 NA 0.22 0.106047 0.024285 NA 0.043 NA 10.0067864 651 4 152682046 152682046 G T exonic PET112 NA nonsynonymous SNV PET112:NM_004564:exon1:c.C89A:p.A30D exonic ENSG00000059691 NA nonsynonymous SNV ENSG00000059691:ENST00000263985:exon1:c.C89A:p.A30D,ENSG00000059691:ENST00000508611:exon1:c.C89A:p.A30D,ENSG00000059691:ENST00000511538:exon1:c.C77A:p.A26D,ENSG00000059691:ENST00000512306:exon1:c.C89A:p.A30D,ENSG00000059691:ENST00000515812:exon1:c.C89A:p.A30D NA NA 4q31.3 NA Name=Pol2,Mxi1_(bHLH),NRSF,YY1,YY1_(C-20),Sin3Ak-20,TAF7_(SQ-8),KAP1,Pol2-4H8,ERalpha_a,USF1_(SC-8983),Pol2(b),TAF1,eGFP-JunB,ETS1,MafK_(SC-477),POU2F2,p300,USF-1,TBP,Max,c-Myc,HEY1,NFKB,Oct-2 NA NA rs11556167 0.12 0.12 0.117 0.128195 0.1044 0.122 0.0807 0.2511 0.0266 0.11 0.09 0.07 0.21 0.1087 0.23 0.01 D 0.18 B 0.055 B 0.901 N 1.000 P 0.55 N 0.88 T -1.046 T 0.000 T 0.285 1.987 12.6 2.35 0.776 0.241 6.125 1.986626 1.986626 0.08 0.113488 0.231956 NA 0.145 NA 10.0067454 651 18 43262359 43262359 G A exonic SLC14A2 NA nonsynonymous SNV SLC14A2:NM_007163:exon20:c.G2638A:p.A880T,SLC14A2:NM_001242692:exon21:c.G2638A:p.A880T exonic ENSG00000132874 NA nonsynonymous SNV ENSG00000132874:ENST00000589658:exon9:c.G1069A:p.A357T,ENSG00000132874:ENST00000255226:exon20:c.G2638A:p.A880T,ENSG00000132874:ENST00000586448:exon21:c.G2638A:p.A880T Score=436;Name=lod=79 NA 18q12.3 NA NA NA NA rs3745009 0.4 0.4 0.388 0.427716 0.4404 0.3869 0.3761 0.4024 0.5276 0.44 0.39 0.35 0.4 0.4362 0.45 0.38 T 0.017 B 0.024 B 0.001 N 0.000 P 1.53 L 0.72 T -0.940 T 0.000 T 0.149 2.767 15.21 5.14 2.390 1.970 18.217 2.766981 2.766981 0.48 0.45 0.390377 ID=COSM1130064;OCCURENCE=2(prostate) 0.297 NA 10.0067334 651 10 13214753 13214753 G C exonic MCM10 NA nonsynonymous SNV MCM10:NM_018518:exon5:c.G580C:p.A194P,MCM10:NM_182751:exon5:c.G583C:p.A195P exonic ENSG00000065328 NA nonsynonymous SNV ENSG00000065328:ENST00000378694:exon4:c.G580C:p.A194P,ENSG00000065328:ENST00000378714:exon5:c.G580C:p.A194P,ENSG00000065328:ENST00000484800:exon5:c.G583C:p.A195P NA NA 10p13 NA NA NA NA rs34630110 0.06 0.06 0.051 0.0411342 0.1163 0.0149 0.0447 0.0166 0.0215 0.12 0.02 0.06 0.02 0.0924 0.12 0.3 T 0.0 B 0.001 B 0.983 N 1.000 P 0.69 N 2.5 T -0.951 T 0.000 T 0.032 1.317 10.32 -6.07 -1.167 -1.322 7.314 1.317398 1.317398 0.23 0.119419 0.040172 NA 0.101 NA 10.0052144 652 4 71114956 71114956 G T exonic CSN3 NA nonsynonymous SNV CSN3:NM_005212:exon4:c.G329T:p.R110L exonic ENSG00000171209 NA nonsynonymous SNV ENSG00000171209:ENST00000304954:exon4:c.G329T:p.R110L NA NA 4q13.3 NA NA NA NA rs1048152 0.15 0.15 0.147 0.139776 0.1074 0.2183 0.1671 0.0983 0.1288 0.11 0.24 0.16 0.12 0.1296 0.24 0.02 D 0.086 B 0.07 B 0.195 N 1.000 P 1.75 L 1.83 T -0.977 T 0.000 T 0.087 1.532 11.08 -5.34 -0.757 -2.249 1.091 1.532121 1.532121 0.03 0.09186 0.087835 ID=COSM149686;OCCURENCE=1(stomach),1(prostate) 0.188 NA 10.0044734 652 5 140763029 140763029 A G exonic PCDHGA7 NA nonsynonymous SNV PCDHGA7:NM_018920:exon1:c.A563G:p.E188G,PCDHGA7:NM_032087:exon1:c.A563G:p.E188G exonic ENSG00000253537 NA nonsynonymous SNV ENSG00000253537:ENST00000518325:exon1:c.A563G:p.E188G Score=309;Name=lod=24 NA 5q31.3 NA NA NA NA rs2072315 0.52 0.52 0.512 0.543131 0.4225 0.3264 0.6254 0.8495 0.4182 0.45 0.33 0.6 0.81 0.4771 0.81 1 T 0.0 B 0.0 B . . 0.000 P -3.27 N 2.14 T -0.962 T 0.000 T 0.085 -0.733 0.867 4.23 1.290 1.416 12.470 -0.733271 NA NA 0.430402 0.808526 NA 0.558 NA 10.0033314 652 7 44610376 44610376 G A exonic DDX56 NA stopgain DDX56:NM_019082:exon7:c.C991T:p.R331X exonic ENSG00000136271 NA stopgain ENSG00000136271:ENST00000258772:exon7:c.C991T:p.R331X,ENSG00000136271:ENST00000421223:exon7:c.C991T:p.R331X NA NA 7p13 Score=730;Name=V$PPARG_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008267 NA 0.36 T . . . . 0.176 N 1.000 N . . . . . . . . . 14.196 48 1.5 0.256 0.874 13.216 14.195918 14.195918 0.51 NA NA NA NA NA 9.9999917 652 1 34330067 34330067 A C exonic HMGB4 NA nonsynonymous SNV HMGB4:NM_145205:exon2:c.A275C:p.E92A exonic ENSG00000176256 NA nonsynonymous SNV ENSG00000176256:ENST00000519684:exon2:c.A275C:p.E92A,ENSG00000176256:ENST00000522796:exon4:c.A275C:p.E92A Score=378;Name=lod=46 NA 1p35.1 NA NA NA NA rs10379 0.86 0.86 0.857 0.901158 0.7475 0.9008 0.9063 0.9917 0.9335 0.74 0.91 0.89 0.99 0.8262 0.99 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.535 N -3.15 D -0.930 T 0.000 T 0.063 0.863 8.494 5.58 1.614 3.889 11.928 0.862633 NA NA 0.759884 0.946664 NA 0.949 NA 9.9997494 652 6 16290761 16290761 T A exonic GMPR NA nonsynonymous SNV GMPR:NM_006877:exon8:c.T766A:p.F256I exonic ENSG00000137198 NA nonsynonymous SNV ENSG00000137198:ENST00000259727:exon8:c.T766A:p.F256I Score=361;Name=lod=39 NA 6p22.3 NA NA NA NA rs1042391 0.65 0.65 0.657 0.70627 0.3986 0.874 0.5576 0.8835 0.7157 0.39 0.88 0.54 0.85 0.5444 0.88 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.83 N -1.05 T -1.067 T 0.040 T 0.152 -0.274 2.686 5.22 0.810 4.307 11.563 -0.274157 NA 1 0.391395 0.822288 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=GMP_REDUCTASE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000017331.1;CLNDSDB=.;CLNDSDBID=. 9.9989384 652 14 45665468 45665468 C G exonic FANCM NA nonsynonymous SNV FANCM:NM_020937:exon21:c.C5434G:p.P1812A exonic ENSG00000187790 NA nonsynonymous SNV ENSG00000187790:ENST00000557110:exon1:c.C94G:p.P32A,ENSG00000187790:ENST00000556250:exon14:c.C3982G:p.P1328A,ENSG00000187790:ENST00000542564:exon20:c.C5356G:p.P1786A,ENSG00000187790:ENST00000267430:exon21:c.C5434G:p.P1812A NA NA 14q21.2 NA NA NA NA rs3736772 0.09 0.09 0.084 0.10623 0.1143 0.119 0.1081 0.0068 0.2178 0.13 0.12 0.09 0.01 0.1158 0.13 0.12 T 0.003 B 0.005 B 0.104 N 1.000 P 0.895 L 2.56 T -1.051 T 0.002 T 0.216 0.998 9.077 3.29 1.186 1.240 14.452 0.998283 NA 0.24 0.105814 0.023377 NA 0.109 NA 9.9974194 653 3 172835082 172835082 C T exonic SPATA16 NA nonsynonymous SNV SPATA16:NM_031955:exon2:c.G440A:p.G147E exonic ENSG00000144962 NA nonsynonymous SNV ENSG00000144962:ENST00000351008:exon2:c.G440A:p.G147E NA NA 3q26.31 NA NA NA NA rs16846616 0.15 0.15 0.132 0.136981 0.0944 0.3065 0.1686 0.0242 0.136 0.09 0.34 0.15 0.03 0.1287 0.34 0.02 D 0.002 B 0.007 B 0.008 N 1.000 P 0.805 L 1.52 T -0.982 T 0.000 T 0.113 1.551 11.14 4.39 1.342 0.279 11.282 1.551399 1.551399 0.02 0.117093 0.045847 NA 0.138 NA 9.9931404 653 21 34897113 34897113 C T exonic GART NA nonsynonymous SNV GART:NM_000819:exon11:c.G1261A:p.V421I,GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I exonic ENSG00000159131 NA nonsynonymous SNV ENSG00000159131:ENST00000361093:exon11:c.G1261A:p.V421I,ENSG00000159131:ENST00000381815:exon11:c.G1261A:p.V421I,ENSG00000159131:ENST00000381831:exon11:c.G1261A:p.V421I,ENSG00000159131:ENST00000381839:exon11:c.G1261A:p.V421I Score=449;Name=lod=89 NA 21q22.11 Score=837;Name=V$AHRARNT_01 NA NA NA rs8788 0.87 0.87 0.85 0.874201 0.7753 0.9831 0.8703 0.9191 0.8057 0.77 0.99 0.87 0.9 0.808 0.99 1 T 0.0 B 0.001 B 0.000 N 0.000 P -3.51 N 2.14 T -0.949 T 0.000 T 0.051 -0.007 3.979 6.03 1.107 5.789 12.349 -0.006732 NA 1 0.760581 0.901725 NA 0.877 NA 9.9894524 653 21 34640788 34640788 A G exonic IL10RB NA nonsynonymous SNV IL10RB:NM_000628:exon2:c.A139G:p.K47E exonic ENSG00000243646,ENSG00000249624 NA nonsynonymous SNV ENSG00000243646:ENST00000290200:exon2:c.A139G:p.K47E,ENSG00000243646:ENST00000422891:exon2:c.A139G:p.K47E NA NA 21q22.11 NA NA NA NA rs2834167 0.35 0.35 0.276 0.339457 0.2684 0.5635 0.5014 0.0855 0.41 0.28 0.56 0.48 0.1 0.3189 0.56 0.34 T 0.583 P 0.284 B 0.039 N 1.000 P 1.5 L -0.69 T -0.866 T 0.000 T 0.327 2.927 15.76 2.61 2.021 0.790 5.676 2.927466 2.927466 0.06 0.257442 0.130731 NA 0.159 CLINSIG=other;CLNDBN=Hepatitis_b_virus\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000018431.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864880:610424 9.9885914 653 2 54587596 54587596 C T exonic C2orf73 NA nonsynonymous SNV C2orf73:NM_001100396:exon5:c.C761T:p.P254L exonic ENSG00000177994 NA nonsynonymous SNV ENSG00000177994:ENST00000398634:exon5:c.C761T:p.P254L,ENSG00000177994:ENST00000447328:exon5:c.C587T:p.P196L NA NA 2p16.2 NA Name=Rad21,c-Jun,GATA-2,KAP1 Name=103 NA rs2280718 0.73 0.73 0.709 0.676717 0.7903 0.6429 0.7522 0.6445 0.5849 0.8 0.69 0.74 0.65 0.7586 0.8 . . 0.385 B 0.161 B 0.001 D 0.086 P 1.7 L -0.48 T -0.977 T 0.000 T 0.112 3.865 19.64 3.18 0.584 1.105 8.302 3.864774 3.864774 0.51 0.796435 0.685166 NA 0.667 NA 9.9879984 653 19 44983567 44983567 C G exonic ZNF180 NA nonsynonymous SNV ZNF180:NM_013256:exon4:c.G267C:p.W89C exonic ENSG00000167384 NA nonsynonymous SNV ENSG00000167384:ENST00000391956:exon3:c.G192C:p.W64C,ENSG00000167384:ENST00000221327:exon4:c.G267C:p.W89C,ENSG00000167384:ENST00000591064:exon4:c.G186C:p.W62C,ENSG00000167384:ENST00000592529:exon4:c.G186C:p.W62C,ENSG00000167384:ENST00000586637:exon5:c.G295C:p.E99Q NA NA 19q13.31 NA NA NA NA rs2253563 0.48 0.48 0.481 0.453874 0.4672 0.4395 0.3242 0.6498 0.2822 0.46 0.48 0.35 0.59 0.4347 0.62 0.01 D 0.945 P 0.669 P 0.269 N 0.000 P 0.69 N 4.66 T -1.097 T 0.000 T 0.134 2.922 15.74 4.99 2.458 0.896 16.145 2.921938 2.921938 0.04 0.443953 0.61961 NA 0.551 NA 9.9874804 653 12 125448960 125448960 C T exonic DHX37 NA synonymous SNV DHX37:NM_032656:exon15:c.G2025A:p.T675T exonic ENSG00000150990 NA nonsynonymous SNV ENSG00000150990:ENST00000543962:exon4:c.G380A:p.R127Q NA NA 12q24.31 NA NA NA NA rs4076777 0.41 0.41 0.401 0.365216 0.33 0.6448 0.3386 0.2088 0.3436 0.33 0.68 0.37 0.23 0.3551 0.68 0 D . . . . . . 0.000 P . . . . -0.969 T 0.000 T . 1.783 11.92 -3.66 -1.499 -2.742 2.548 1.782963 1.782963 NA 0.328837 0.214707 NA 0.362 NA 9.986063 654 22 50502491 50502491 T C exonic MLC1 NA nonsynonymous SNV MLC1:NM_015166:exon11:c.A1031G:p.N344S,MLC1:NM_139202:exon11:c.A1031G:p.N344S exonic ENSG00000100427 NA nonsynonymous SNV ENSG00000100427:ENST00000450140:exon9:c.A875G:p.N292S,ENSG00000100427:ENST00000431262:exon10:c.A941G:p.N314S,ENSG00000100427:ENST00000535444:exon10:c.A794G:p.N265S,ENSG00000100427:ENST00000538737:exon10:c.A929G:p.N310S,ENSG00000100427:ENST00000311597:exon11:c.A1031G:p.N344S,ENSG00000100427:ENST00000395876:exon11:c.A1031G:p.N344S NA NA 22q13.33 Score=776;Name=V$HEN1_01 NA NA NA rs11568188 0.11 0.11 0.075 0.13119 0.1312 0.0923 0.1758 0.059 0.2372 0.12 0.09 0.16 0.08 0.0907 0.16 0.81 T 0.0 B 0.002 B 0.345 N 1.000 P -0.69 N -1.99 D -0.997 T 0.001 T 0.038 -0.756 0.798 1.67 0.357 0.621 2.066 -0.75638 NA 0.82 0.127209 0.066303 ID=COSM1416980;OCCURENCE=2(large_intestine) 0.022 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000020711.2|RCV000117622.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK1535:C1858854:604004:ORPHA2478|. 9.9842244 654 1 152281304 152281304 A C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.T6058G:p.S2020A exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T6058G:p.S2020A NA NA 1q21.3 NA NA NA NA rs7512857 NA NA 0.202 NA NA NA NA NA NA NA NA NA NA 0.2186 0.33 0.21 T 0.998 D 0.929 D . . 1.000 N 2.095 M 3.05 T -1.046 T 0.020 T 0.037 0.428 6.327 1.13 0.103 0.391 2.886 0.428418 NA 0.37 0.132907 0.326827 NA 0.007 NA 9.9818264 654 20 14306953 14306953 G T exonic FLRT3 NA nonsynonymous SNV FLRT3:NM_013281:exon2:c.C1200A:p.H400Q,FLRT3:NM_198391:exon3:c.C1200A:p.H400Q exonic ENSG00000125848 NA nonsynonymous SNV ENSG00000125848:ENST00000378053:exon2:c.C1200A:p.H400Q,ENSG00000125848:ENST00000341420:exon3:c.C1200A:p.H400Q Score=701;Name=lod=938 NA 20p12.1 Score=832;Name=V$BRN2_01 NA Name=3 NA rs6079391 0.31 0.31 0.282 0.260783 0.4652 0.1597 0.4107 0.1543 0.1922 0.48 0.14 0.41 0.16 0.4062 0.48 0.3 T 0.0 B 0.0 B 0.020 N 0.000 P 0 N 0.37 T -0.913 T 0.000 T 0.015 -0.051 3.751 1.58 0.899 1.833 4.333 -0.051493 NA 0.32 0.481512 0.21153 ID=COSM1410455;OCCURENCE=1(large_intestine) 0.399 NA 9.9804214 654 1 152281039 152281039 G A exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C6323T:p.A2108V exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C6323T:p.A2108V NA NA 1q21.3 NA NA NA NA rs7522925 0.29 0.29 0.264 NA NA NA NA NA NA 0.13 0.42 0.3 0.38 0.2208 0.42 0.3 T 0.324 B 0.021 B . . 1.000 N 0.895 L 4.67 T -0.931 T 0.001 T 0.011 0.454 6.463 -6.74 -1.346 -3.796 6.099 0.453669 NA 0.14 0.13407 0.356786 NA 0.058 NA 9.9784634 654 2 239040218 239040218 G A exonic ESPNL NA nonsynonymous SNV ESPNL:NM_194312:exon9:c.G2863A:p.A955T exonic ENSG00000144488 NA nonsynonymous SNV ENSG00000144488:ENST00000409506:exon4:c.G1759A:p.A587T,ENSG00000144488:ENST00000409169:exon8:c.G2731A:p.A911T,ENSG00000144488:ENST00000343063:exon9:c.G2863A:p.A955T NA NA 2q37.3 NA NA NA NA rs73102309 0.12 0.12 0.136 0.133786 0.1173 0.0546 0.0908 0.2368 0.1237 0.11 0.07 0.1 0.19 0.121 0.21 0.54 T 0.001 B 0.002 B 0.612 N 1.000 P 0.55 N 1.04 T -1.043 T 0.000 T 0.138 0.201 5.082 -8.28 -1.336 -1.492 0.427 0.200731 NA 0.38 0.117613 0.209891 NA 0.094 NA 9.9774204 655 8 27308585 27308585 A C exonic PTK2B NA nonsynonymous SNV PTK2B:NM_173175:exon25:c.A2387C:p.K796T,PTK2B:NM_173176:exon26:c.A2513C:p.K838T,PTK2B:NM_004103:exon27:c.A2513C:p.K838T,PTK2B:NM_173174:exon31:c.A2513C:p.K838T exonic ENSG00000120899 NA nonsynonymous SNV ENSG00000120899:ENST00000397497:exon17:c.A1625C:p.K542T,ENSG00000120899:ENST00000517339:exon24:c.A2387C:p.K796T,ENSG00000120899:ENST00000420218:exon25:c.A2387C:p.K796T,ENSG00000120899:ENST00000346049:exon26:c.A2513C:p.K838T,ENSG00000120899:ENST00000338238:exon30:c.A2387C:p.K796T,ENSG00000120899:ENST00000544172:exon30:c.A2513C:p.K838T,ENSG00000120899:ENST00000397501:exon31:c.A2513C:p.K838T Score=487;Name=lod=127 NA 8p21.2 Score=905;Name=V$GATA_C NA NA NA rs751019 0.38 0.38 0.346 0.364617 0.4573 0.3601 0.4092 0.2413 0.409 0.45 0.34 0.44 0.26 0.437 0.46 0.27 T 0.014 B 0.003 B 0.016 N 0.333 P 0.145 N -0.8 T -0.955 T 0.000 T 0.219 0.861 8.485 4.26 0.890 3.193 8.073 0.860694 NA 0.09 0.464535 0.281207 NA 0.319 NA 9.9744984 655 6 12125772 12125772 A G exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A5744G:p.Q1915R exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.A5744G:p.Q1915R NA NA 6p24.1 NA NA NA NA rs1126472 0.15 0.15 0.142 0.170128 0.1362 0.131 0.1282 0.2352 0.1871 0.13 0.11 0.15 0.23 0.1235 0.23 . . 0.022 B 0.01 B . . 1.000 P 0 N 3.05 T -0.907 T 0.002 T 0.013 -2.199 0.005 -6.62 -1.569 -3.171 1.272 -2.198926 NA 0.54 0.100049 0.205148 NA 0.217 NA 9.9735844 655 22 50301476 50301476 T C exonic ALG12 NA synonymous SNV ALG12:NM_024105:exon7:c.A885G:p.A295A exonic ENSG00000182858 NA synonymous SNV ENSG00000182858:ENST00000330817:exon7:c.A885G:p.A295A NA NA 22q13.33 NA NA NA NA rs8135963 0.35 0.35 0.381 0.402157 0.2097 0.1806 0.1902 0.8253 0.407 0.22 0.19 0.2 0.83 0.2704 0.83 . . . . . . . . 1.000 P . . . . -1.046 T 0.000 T . -0.937 0.366 -9.6 -3.134 -5.665 1.883 -0.936583 NA NA 0.215116 0.711757 ID=COSM445148;OCCURENCE=1(breast) 0.478 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082168.1;CLNDSDB=.;CLNDSDBID=. 9.9714506 655 22 50297435 50297435 T C UTR3 ALG12 NM_024105:c.*51A>G NA NA exonic ENSG00000182858 NA unknown UNKNOWN NA NA 22q13.33 NA Name=GATA-2 Name=5 NA rs1321 0.34 0.34 0.373 0.402157 0.2097 0.1796 0.1873 0.8253 0.41 0.22 0.19 0.2 0.83 0.2749 0.83 0 D . . . . . . 1.000 P . . . . -0.976 T 0.000 T . -0.578 1.402 -4.75 -3.054 -0.767 1.057 -0.577915 NA NA 0.213754 0.7082 NA 0.478 NA 9.9683127 656 7 34818113 34818113 A T exonic NPSR1 NA nonsynonymous SNV NPSR1:NM_207172:exon3:c.A320T:p.N107I,NPSR1:NM_207173:exon3:c.A320T:p.N107I exonic ENSG00000187258 NA nonsynonymous SNV ENSG00000187258:ENST00000359791:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000360581:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000381539:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000381553:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000396095:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000531252:exon3:c.A287T:p.N96I NA NA 7p14.3 Score=858;Name=V$FOXJ2_02 NA NA NA rs324981 0.48 0.48 0.485 0.467452 0.4622 0.5288 0.4092 0.559 0.3272 0.46 0.52 0.45 0.49 0.4465 0.55 1 T 0.0 B 0.0 B 0.000 N 0.035 P -1.505 N 1.56 T -0.940 T 0.000 T 0.289 -1.424 0.021 5.14 0.895 2.994 8.601 -1.424493 NA 1 0.460698 0.5463 NA 0.406 CLINSIG=other;CLNDBN=ASTHMA-RELATED_TRAITS\x2c_SUSCEPTIBILITY_TO\x2c_2;CLNREVSTAT=single;CLNACC=RCV000002276.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1837811:608584 9.9639354 656 7 75053499 75053499 G A exonic POM121C NA nonsynonymous SNV POM121C:NM_001099415:exon12:c.C881T:p.S294L exonic ENSG00000135213 NA nonsynonymous SNV ENSG00000135213:ENST00000257665:exon10:c.C1607T:p.S536L,ENSG00000135213:ENST00000453279:exon12:c.C881T:p.S294L NA NA 7q11.23 NA NA NA NA rs113744930 0.12 0.12 0.115 0.15016 0.1183 0.002 0.098 0.3169 0.1472 0.1 0.0017 0.11 0.31 0.1272 0.31 0.03 D 0.013 B 0.01 B 0.170 N 1.000 P 2.175 M 3.62 T -1.024 T 0.000 T 0.041 1.18 9.798 1.71 0.161 2.461 7.049 1.179694 NA 0.14 0.124767 0.260781 NA 0.188 NA 9.9630664 656 9 114454544 114454544 T C exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon23:c.A3404G:p.E1135G,C9orf84:NM_173521:exon25:c.A3521G:p.E1174G exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon22:c.A3299G:p.E1100G,ENSG00000165181:ENST00000394779:exon23:c.A3404G:p.E1135G,ENSG00000165181:ENST00000318737:exon25:c.A3521G:p.E1174G,ENSG00000165181:ENST00000374287:exon27:c.A3521G:p.E1174G NA NA 9q31.3 NA NA NA NA rs7869279 0.52 0.52 0.487 0.497005 0.4404 0.7728 0.5994 0.3911 0.3415 0.43 0.75 0.58 0.36 0.4843 0.75 0.06 T 0.893 P 0.563 P 0.374 N 0.001 P 0.895 L 3.38 T -1.200 T 0.000 T 0.087 1.58 11.24 4.24 0.955 2.033 10.794 1.580204 1.580204 0.06 0.445814 0.412392 NA 0.464 NA 9.9628194 656 11 4944986 4944986 A G exonic OR51G1 NA nonsynonymous SNV OR51G1:NM_001005237:exon1:c.T584C:p.I195T exonic ENSG00000176879 NA nonsynonymous SNV ENSG00000176879:ENST00000321961:exon1:c.T584C:p.I195T NA NA 11p15.4 Score=817;Name=V$PBX1_02 NA NA NA rs12796015 0.07 0.07 0.058 0.048722 0.1441 NA 0.0937 0.0136 0.0164 0.14 NA 0.13 0.02 0.0942 0.14 0.35 T 0.0 B 0.002 B 0.172 U 1.000 P -1.545 N 8.76 T -1.053 T 0.000 T 0.017 -3.142 0.001 -3.28 -0.348 -3.126 2.789 -3.142373 NA 0.58 0.132969 0.036801 NA 0.123 NA 9.9620644 656 2 85628983 85628983 C T exonic CAPG NA nonsynonymous SNV CAPG:NM_001256139:exon3:c.G121A:p.V41I,CAPG:NM_001256140:exon3:c.G121A:p.V41I,CAPG:NM_001747:exon3:c.G121A:p.V41I exonic ENSG00000042493 NA nonsynonymous SNV ENSG00000042493:ENST00000263867:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000409275:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000409670:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000409724:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000409921:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000439385:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000449030:exon3:c.G121A:p.V41I,ENSG00000042493:ENST00000447219:exon4:c.G121A:p.V41I NA NA 2p11.2 NA NA NA NA rs2229668 0.1 0.1 0.096 0.0920527 0.1233 0.0764 0.0807 0.0832 0.0961 0.12 0.08 0.09 0.09 0.1083 0.14 0.22 T 0.0 B 0.0 B 0.859 N 1.000 P 0.025 N 0.56 T -1.067 T 0.001 T 0.205 0.483 6.62 -9.84 -2.182 -5.140 17.044 0.482844 NA 0.25 0.141512 0.096913 NA 0.072 NA 9.9602214 657 2 220037444 220037444 G A exonic CNPPD1 NA nonsynonymous SNV CNPPD1:NM_015680:exon8:c.C1097T:p.P366L exonic ENSG00000115649 NA nonsynonymous SNV ENSG00000115649:ENST00000360507:exon8:c.C1097T:p.P366L,ENSG00000115649:ENST00000409789:exon9:c.C1097T:p.P366L NA NA 2q35 NA NA NA NA rs17655123 0.11 0.11 0.095 0.0890575 0.1322 0.1597 0.1182 0.0144 0.0521 0.13 0.16 0.11 0.02 0.117 0.16 0.1 T 0.041 B 0.037 B 0.096 N 0.998 P 0.895 L 1.11 T -1.100 T 0.000 T 0.229 1.435 10.74 5.04 2.609 2.773 15.233 1.434915 1.434915 0.01 0.130814 0.033818 NA 0.08 NA 9.9533194 657 4 187531022 187531022 A G exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon15:c.T10001C:p.V3334A exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon15:c.T10001C:p.V3334A Score=496;Name=lod=138 NA 4q35.2 NA NA NA NA rs28647489 0.22 0.22 0.21 0.192492 0.1103 0.3819 0.1902 0.1921 0.0838 0.11 0.4 0.2 0.19 0.1497 0.4 0.68 T 0.001 B 0.004 B 0.000 N 0.000 P 1.41 L 4.04 T -0.930 T 0.000 T 0.082 0.105 4.568 2.77 0.443 3.445 7.055 0.105461 NA 0.3 0.120297 0.145042 ID=COSM1131161,COSM1131159;OCCURENCE=1(prostate) 0.167 NA 9.9530364 657 11 1775385 1775385 C T intronic CTSD,MOB2 NA NA NA exonic ENSG00000117984 NA nonsynonymous SNV ENSG00000117984:ENST00000429746:exon2:c.G142A:p.A48T NA NA 11p15.5 NA NA Name=3 NA rs78735768 0.05 0.05 0.039 0.0523163 0.0666 0.0377 0.0519 0.0182 0.0992 0.07 0.03 0.07 0.03 0.0787 0.07 . . . . . . . . 1.000 N . . 0.37 T -1.074 T 0.006 T 0.023 2.091 12.95 -5.59 -2.497 -2.211 0.098 2.090647 2.090647 0.02 0.069335 0.024807 NA 0.022 NA 9.9520317 657 17 39580562 39580562 T C exonic KRT37 NA nonsynonymous SNV KRT37:NM_003770:exon1:c.A214G:p.T72A exonic ENSG00000108417 NA nonsynonymous SNV ENSG00000108417:ENST00000225550:exon1:c.A214G:p.T72A Score=295;Name=lod=21 NA 17q21.2 NA NA NA NA rs9916484 0.37 0.37 0.309 0.391374 0.4592 0.4067 0.3415 0.1846 0.6207 0.45 0.4 0.4 0.21 0.4373 0.49 0.08 T 0.019 B 0.004 B 0.004 N 0.999 P 0.895 L -1.47 T -0.978 T 0.000 T 0.072 1.211 9.918 4.69 1.760 0.986 12.087 1.211427 NA 0.18 0.485465 0.223559 NA 0.348 NA 9.9513684 657 1 248343945 248343945 C G exonic OR2M2 NA nonsynonymous SNV OR2M2:NM_001004688:exon1:c.C658G:p.R220G exonic ENSG00000198601 NA nonsynonymous SNV ENSG00000198601:ENST00000359682:exon1:c.C658G:p.R220G NA NA 1q44 NA NA NA NA rs4244171 0.51 0.51 0.453 0.574681 0.6382 0.4306 0.6037 0.6051 0.5961 0.58 0.38 0.56 0.51 0.6109 0.63 0.33 T 0.971 D 0.838 P 0.496 U 1.000 P 2.135 M 8.7 T -1.041 T 0.000 T 0.078 0.525 6.844 -2.0 -0.160 -0.965 3.429 0.524908 NA 0.33 0.633054 0.58443 ID=COSM1178407;OCCURENCE=1(prostate) 0.58 NA 9.9511794 657 8 6302183 6302183 G C exonic MCPH1 NA nonsynonymous SNV MCPH1:NM_001172575:exon7:c.G796C:p.D266H,MCPH1:NM_001172574:exon8:c.G940C:p.D314H,MCPH1:NM_024596:exon8:c.G940C:p.D314H exonic ENSG00000147316 NA nonsynonymous SNV ENSG00000147316:ENST00000522905:exon7:c.G796C:p.D266H,ENSG00000147316:ENST00000344683:exon8:c.G940C:p.D314H,ENSG00000147316:ENST00000519480:exon8:c.G940C:p.D314H NA NA 8p23.1 NA NA NA NA rs930557 0.68 0.68 0.629 0.644768 0.7982 0.7639 0.8256 0.2458 0.7751 0.82 0.78 0.83 0.25 0.7714 0.83 0.06 T 1.0 D 0.992 D 0.492 N 1.000 P 2.19 M 2.69 T -1.055 T 0.000 T 0.166 1.759 11.84 2.68 0.345 0.311 8.507 1.759211 1.759211 0.11 0.814053 0.373603 NA 0.609 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_1;CLNREVSTAT=single;CLNACC=RCV000020903.1;CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet;CLNDSDBID=NBK9587:C1855081:251200:606858:ORPHA2512 9.9496804 657 1 214820099 214820099 A G exonic CENPF NA nonsynonymous SNV CENPF:NM_016343:exon13:c.A7186G:p.N2396D exonic ENSG00000117724 NA nonsynonymous SNV ENSG00000117724:ENST00000366955:exon13:c.A7186G:p.N2396D Score=309;Name=lod=24 NA 1q41 Score=806;Name=V$IRF7_01 NA NA NA rs3748697 0.27 0.27 0.257 0.235024 0.4831 0.122 0.3127 0.0522 0.2883 0.47 0.11 0.35 0.07 0.3926 0.51 0.67 T 0.013 B 0.018 B 0.021 N 0.914 P 1.525 L 0.96 T -0.916 T 0.000 T 0.007 -0.004 3.995 3.97 0.969 0.342 5.149 -0.003637 NA NA 0.508837 0.118355 ID=COSM425281;OCCURENCE=1(breast) 0.333 NA 9.9487964 657 17 38121993 38121993 G A exonic GSDMA NA nonsynonymous SNV GSDMA:NM_178171:exon2:c.G53A:p.R18Q exonic ENSG00000167914 NA nonsynonymous SNV ENSG00000167914:ENST00000301659:exon2:c.G53A:p.R18Q,ENSG00000167914:ENST00000577447:exon2:c.G53A:p.R18Q Score=387;Name=lod=50 Name=Asthma 17q21.1 NA NA NA NA rs3894194 0.43 0.43 0.387 0.430911 0.4463 0.5397 0.5043 0.2587 0.4836 0.44 0.5 0.5 0.26 0.4824 0.5 0.44 T 0.016 B 0.01 B 0.489 N 0.941 P 1.56 L 1.94 T -0.939 T 0.000 T 0.314 2.271 13.55 3.34 1.245 0.886 7.603 2.270656 2.270656 NA 0.456031 0.295008 NA 0.435 NA 9.9486024 657 19 33467515 33467515 T C exonic C19orf40 NA nonsynonymous SNV C19orf40:NM_152266:exon5:c.T575C:p.I192T exonic ENSG00000131944 NA nonsynonymous SNV ENSG00000131944:ENST00000590179:exon3:c.T290C:p.I97T,ENSG00000131944:ENST00000589646:exon4:c.T290C:p.I97T,ENSG00000131944:ENST00000588258:exon5:c.T575C:p.I192T,ENSG00000131944:ENST00000590281:exon5:c.T575C:p.I192T NA NA 19q13.11 NA NA Name=2 NA rs3816032 0.16 0.16 0.13 0.189696 0.1074 0.3403 0.1297 0.0809 0.3088 0.09 0.32 0.14 0.1 0.1583 0.32 0.6 T 0.002 B 0.008 B 0.402 N 1.000 P 1.5 L . . -1.003 T 0.000 T 0.055 0.012 4.075 3.21 0.383 1.380 10.026 0.011771 NA 0.18 0.119186 0.083069 NA 0.138 NA 9.9484474 657 21 18937758 18937758 A G exonic CXADR NA nonsynonymous SNV CXADR:NM_001207065:exon3:c.A223G:p.T75A,CXADR:NM_001207064:exon4:c.A428G:p.H143R,CXADR:NM_001207063:exon5:c.A584G:p.H195R exonic ENSG00000154639 NA nonsynonymous SNV ENSG00000154639:ENST00000356275:exon3:c.A223G:p.T75A,ENSG00000154639:ENST00000400165:exon4:c.A428G:p.H143R,ENSG00000154639:ENST00000400166:exon5:c.A584G:p.H195R NA NA 21q21.1 NA NA NA NA rs437470 0.18 0.18 0.177 0.187101 0.1233 0.1468 0.1196 0.3737 0.09 0.1 0.15 0.13 0.38 0.139 0.38 0.37 T 0.0 B 0.001 B . . 0.000 P . . -2.52 D -1.061 T 0.000 T . -0.929 0.381 -10.6 -4.439 -2.428 3.001 -0.928851 NA 0 0.125465 0.318883 NA 0.246 NA 9.9455684 657 16 77328990 77328990 C A exonic ADAMTS18 NA nonsynonymous SNV ADAMTS18:NM_199355:exon19:c.G2836T:p.A946S exonic ENSG00000140873 NA nonsynonymous SNV ENSG00000140873:ENST00000282849:exon19:c.G2836T:p.A946S Score=385;Name=lod=49 NA 16q23.1 NA NA NA NA rs12935394 0.12 0.12 0.117 0.114018 0.1262 0.1935 0.183 0.0053 0.1176 0.13 0.19 0.16 0.01 0.1312 0.19 0.87 T 0.0 B 0.001 B 0.000 N 1.000 P -2.475 N 0.78 T -1.032 T 0.000 T 0.058 -0.743 0.837 3.28 0.426 1.489 3.918 -0.743407 NA 0.79 0.130814 0.021611 NA 0.065 NA 9.9451194 657 10 76854564 76854564 C T exonic DUSP13 NA nonsynonymous SNV DUSP13:NM_001007272:exon4:c.G617A:p.C206Y,DUSP13:NM_016364:exon4:c.G467A:p.C156Y,DUSP13:NM_001007273:exon6:c.G746A:p.C249Y exonic ENSG00000079393 NA nonsynonymous SNV ENSG00000079393:ENST00000464872:exon3:c.G314A:p.C105Y,ENSG00000079393:ENST00000372700:exon4:c.G617A:p.C206Y,ENSG00000079393:ENST00000472493:exon4:c.G467A:p.C156Y,ENSG00000079393:ENST00000478873:exon4:c.G875A:p.C292Y,ENSG00000079393:ENST00000605915:exon5:c.G533A:p.C178Y,ENSG00000079393:ENST00000607131:exon6:c.G746A:p.C249Y,ENSG00000079393:ENST00000491677:exon8:c.G854A:p.C285Y Score=539;Name=lod=206 NA 10q22.2 NA NA NA NA rs3088142 0.65 0.65 0.62 0.641773 0.4433 0.9028 0.6844 0.6884 0.4836 0.45 0.91 0.63 0.68 0.5191 0.91 1 T 0.052 B 0.015 B 0.220 N 0.000 P -0.135 N -1.87 D -0.984 T 0.000 T 0.065 -0.513 1.656 -2.21 -1.260 -0.120 7.288 -0.512679 NA 1 0.42593 0.658874 NA 0.681 NA 9.9450034 658 10 13330402 13330402 T C exonic PHYH NA synonymous SNV PHYH:NM_001037537:exon5:c.A336G:p.T112T,PHYH:NM_006214:exon6:c.A636G:p.T212T exonic ENSG00000107537 NA synonymous SNV ENSG00000107537:ENST00000396913:exon5:c.A336G:p.T112T,ENSG00000107537:ENST00000263038:exon6:c.A636G:p.T212T,ENSG00000107537:ENST00000396920:exon6:c.A585G:p.T195T,ENSG00000107537:ENST00000453759:exon6:c.A336G:p.T112T Score=443;Name=lod=84 NA 10p13 Score=754;Name=V$MYOGNF1_01 Name=IRF4_(M-17),Pol2,EBF1_(C-8),PAX5-N19 Name=7 NA rs473407 0.24 0.24 0.229 0.239018 0.2286 0.124 0.1686 0.4312 0.1585 0.23 0.15 0.17 0.43 0.2394 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260186 NA NA 0.254884 0.38788 NA 0.21 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081366.3;CLNDSDB=.;CLNDSDBID=. 9.9437826 658 16 78064733 78064733 C A exonic CLEC3A NA nonsynonymous SNV CLEC3A:NM_001244755:exon2:c.C433A:p.Q145K,CLEC3A:NM_005752:exon3:c.C616A:p.Q206K exonic ENSG00000166509 NA nonsynonymous SNV ENSG00000166509:ENST00000299642:exon3:c.C616A:p.Q206K,ENSG00000166509:ENST00000575655:exon3:c.C589A:p.Q197K Score=369;Name=lod=42 NA 16q23.1 NA NA NA NA rs2072663 0.15 0.15 0.129 0.13139 0.1223 0.245 0.1441 0.0719 0.0951 0.12 0.25 0.12 0.1 0.1341 0.25 0.41 T 0.001 B 0.0 B 0.018 N 1.000 P 0 N . . -1.026 T 0.000 T 0.115 1.269 10.14 3.85 0.547 3.057 10.229 1.268501 1.268501 0.44 0.133403 0.082575 NA 0.167 NA 9.9435304 658 2 27462076 27462076 C T exonic CAD NA synonymous SNV CAD:NM_004341:exon32:c.C5229T:p.P1743P exonic ENSG00000084774 NA synonymous SNV ENSG00000084774:ENST00000403525:exon31:c.C5040T:p.P1680P,ENSG00000084774:ENST00000264705:exon32:c.C5229T:p.P1743P NA NA 2p23.3 NA NA NA NA rs3739092 0.23 0.23 0.21 0.265575 0.2237 0.1488 0.3689 0.2716 0.3476 0.23 0.11 0.31 0.3 0.2681 0.31 0.14 T . . . . 0.000 D 0.000 P . . . . -1.028 T 0.000 T . 0.551 6.98 -5.32 -2.352 -3.104 4.550 0.550843 NA NA 0.231977 0.238084 NA 0.268 NA 9.9428896 658 1 152280900 152280900 T G exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.A6462C:p.Q2154H exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.A6462C:p.Q2154H NA NA 1q21.3 NA NA NA NA rs74129452 NA NA 0.217 0.34385 0.1541 0.4444 0.3487 0.3843 0.3773 NA NA NA NA 0.2366 0.087 0.18 T 0.0 B 0.0 B . . 1.000 N -2.255 N 3.9 T -0.888 T 0.001 T 0.054 -0.347 2.361 -5.18 -3.813 -3.334 0.166 -0.346581 NA 1 NA NA NA 0.087 NA 9.9426334 658 2 220046840 220046840 G A exonic FAM134A NA nonsynonymous SNV FAM134A:NM_024293:exon9:c.G1121A:p.R374H exonic ENSG00000144567 NA nonsynonymous SNV ENSG00000144567:ENST00000430297:exon9:c.G1121A:p.R374H,ENSG00000144567:ENST00000458520:exon9:c.G500A:p.R167H NA NA 2q35 NA NA NA NA rs3210652 0.12 0.12 0.098 0.0952476 0.1382 0.1706 0.121 0.0144 0.0644 0.14 0.17 0.12 0.02 0.1223 0.17 0.52 T 0.0 B 0.0 B 0.669 N 1.000 P -0.895 N 1.56 T -1.020 T 0.000 T 0.232 -1.529 0.016 2.82 1.232 1.578 9.160 -1.529021 NA 0 0.132093 0.032229 NA 0.087 NA 9.9407404 658 7 141672604 141672604 T C exonic TAS2R38 NA nonsynonymous SNV TAS2R38:NM_176817:exon1:c.A886G:p.I296V exonic ENSG00000257138 NA nonsynonymous SNV ENSG00000257138:ENST00000547270:exon1:c.A886G:p.I296V NA NA 7q34 Score=775;Name=V$MYOGNF1_01 NA NA NA rs10246939 0.55 0.55 0.52 0.520567 0.4612 0.6766 0.6873 0.4766 0.362 0.45 0.65 0.64 0.52 0.4761 0.65 0.24 T 0.747 P 0.759 P 0.001 N 0.057 P 1.665 L 0.68 T -0.925 T 0.000 T 0.117 0.759 8.017 0.982 -0.099 -2.380 8.797 0.758746 NA 0.39 0.455581 0.477985 NA 0.507 CLINSIG=drug-response;CLNDBN=Phenylthiocarbamide_tasting;CLNREVSTAT=single;CLNACC=RCV000003040.1;CLNDSDB=MedGen;CLNDSDBID=C1868398 9.9404524 658 3 67054649 67054649 T C exonic KBTBD8 NA nonsynonymous SNV KBTBD8:NM_032505:exon3:c.T1258C:p.C420R exonic ENSG00000163376 NA nonsynonymous SNV ENSG00000163376:ENST00000295568:exon3:c.T1180C:p.C394R,ENSG00000163376:ENST00000417314:exon3:c.T1258C:p.C420R Score=555;Name=lod=241 NA 3p14.1 NA NA NA NA rs13096789 0.1 0.1 0.084 0.0934505 0.1352 0.0179 0.2305 0.0522 0.0869 0.14 0.02 0.19 0.05 0.1244 0.19 . . 0.003 B 0.005 B 0.000 N 0.000 P -0.075 N -1.05 T -1.113 T 0.000 T 0.137 1.242 10.04 2.69 0.369 4.094 9.381 1.242106 1.242106 0.76 0.135698 0.06128 NA 0.094 NA 9.9380354 658 8 26628028 26628028 A G exonic ADRA1A NA nonsynonymous SNV ADRA1A:NM_000680:exon2:c.T1039C:p.C347R,ADRA1A:NM_033302:exon2:c.T1039C:p.C347R,ADRA1A:NM_033303:exon2:c.T1039C:p.C347R,ADRA1A:NM_033304:exon2:c.T1039C:p.C347R exonic ENSG00000120907 NA nonsynonymous SNV ENSG00000120907:ENST00000276393:exon2:c.T1039C:p.C347R,ENSG00000120907:ENST00000354550:exon2:c.T1039C:p.C347R,ENSG00000120907:ENST00000380582:exon2:c.T1039C:p.C347R,ENSG00000120907:ENST00000380586:exon2:c.T1039C:p.C347R,ENSG00000120907:ENST00000519229:exon2:c.T1039C:p.C347R,ENSG00000120907:ENST00000380573:exon3:c.T1039C:p.C347R Score=376;Name=lod=45 NA 8p21.2 NA NA NA NA rs1048101 0.64 0.64 0.645 0.648163 0.4334 0.8929 0.4928 0.7844 0.5429 0.44 0.88 0.49 0.77 0.519 0.88 0.93 T 0.0 B 0.0 B 0.000 N 0.000 P -1.155 N 1.4 T -0.978 T 0.000 T 0.048 0.452 6.452 5.83 1.498 2.915 14.870 0.451582 NA 0.86 0.445465 0.739446 NA 0.58 NA 9.9354684 659 15 59500116 59500116 T C exonic LDHAL6B NA nonsynonymous SNV LDHAL6B:NM_033195:exon1:c.T977C:p.I326T exonic ENSG00000171989 NA nonsynonymous SNV ENSG00000171989:ENST00000307144:exon1:c.T977C:p.I326T Score=433;Name=lod=77 NA 15q22.2 NA NA NA NA rs3825937 0.36 0.36 0.336 0.398962 0.2734 0.5694 0.3934 0.2496 0.5583 0.27 0.59 0.35 0.24 0.3471 0.59 0.06 T 0.069 B 0.512 P 0.001 U 0.000 P 2.175 M -0.03 T -0.902 T 0.000 T 0.18 3.597 18.32 1.47 0.654 4.730 4.957 3.597035 3.597035 0.02 0.278102 0.261068 NA 0.29 NA 9.9347314 659 19 2109157 2109157 T C exonic AP3D1 NA nonsynonymous SNV AP3D1:NM_003938:exon28:c.A3214G:p.I1072V,AP3D1:NM_001261826:exon30:c.A3400G:p.I1134V exonic ENSG00000065000 NA nonsynonymous SNV ENSG00000065000:ENST00000350812:exon23:c.A2707G:p.I903V,ENSG00000065000:ENST00000345016:exon28:c.A3214G:p.I1072V,ENSG00000065000:ENST00000356926:exon29:c.A3091G:p.I1031V,ENSG00000065000:ENST00000355272:exon30:c.A3400G:p.I1134V NA NA 19p13.3 Score=831;Name=V$PBX1_02 NA NA NA rs25673 0.07 0.07 0.065 0.0778754 0.1153 NA 0.0677 0.0779 0.1268 0.11 NA 0.09 0.09 0.1275 0.16 0.5 T 0.004 B 0.002 B 0.004 N 0.999 P 1.6 L 0.87 T -1.030 T 0.000 T 0.032 -1.604 0.014 -5.88 -1.861 -0.827 7.611 -1.603914 NA 0.44 0.156856 0.09399 NA 0.065 NA 9.9336774 659 19 18378219 18378219 A G exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.T131C:p.L44P,KIAA1683:NM_025249:exon3:c.T131C:p.L44P exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.T131C:p.L44P,ENSG00000130518:ENST00000600328:exon3:c.T131C:p.L44P NA NA 19p13.11 NA Name=Egr-1 NA NA rs1469023 0.55 0.55 0.563 0.561502 0.4523 0.5516 0.6052 0.73 0.4254 0.45 0.52 0.54 0.72 0.502 0.72 0.09 T 0.0 B 0.0 B . . 1.000 P -0.805 N 3.9 T -1.059 T 0.000 T 0.031 0.631 7.39 -2.54 -1.090 -1.300 3.5 0.630654 NA 0.15 0.445452 0.705175 NA 0.522 NA 9.9335814 659 10 128193368 128193368 C T exonic C10orf90 NA nonsynonymous SNV C10orf90:NM_001004298:exon3:c.G401A:p.R134H exonic ENSG00000154493 NA nonsynonymous SNV ENSG00000154493:ENST00000284694:exon3:c.G401A:p.R134H,ENSG00000154493:ENST00000356858:exon3:c.G260A:p.R87H,ENSG00000154493:ENST00000392694:exon3:c.G260A:p.R87H,ENSG00000154493:ENST00000432642:exon3:c.G401A:p.R134H,ENSG00000154493:ENST00000454341:exon3:c.G401A:p.R134H,ENSG00000154493:ENST00000488181:exon4:c.G260A:p.R87H,ENSG00000154493:ENST00000544758:exon4:c.G692A:p.R231H NA NA 10q26.2 NA NA NA NA rs11245008 0.21 0.21 0.202 0.215056 0.1153 0.129 0.1599 0.4592 0.1155 0.12 0.15 0.16 0.44 0.1561 0.44 0.28 T 0.03 B 0.011 B 0.269 N 1.000 P -0.2 N 2.03 T -0.996 T 0.000 T 0.065 1.138 9.636 -9.93 -3.872 -2.225 11.455 1.137739 NA 0.14 0.128855 0.374427 NA 0.246 NA 9.9330784 659 1 24861704 24861704 G A exonic RCAN3 NA nonsynonymous SNV RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q exonic ENSG00000117602 NA nonsynonymous SNV ENSG00000117602:ENST00000374393:exon2:c.G317A:p.R106Q,ENSG00000117602:ENST00000412742:exon3:c.G491A:p.R164Q NA NA 1p36.11 NA Name=E2F6_(H-50),EBF1_(C-8) Name=20 NA rs196432 0.52 0.52 0.512 0.509185 0.4573 0.7272 0.4006 0.4667 0.4724 0.48 0.73 0.39 0.44 0.4822 0.73 0.87 T 0.014 B 0.005 B . . 0.000 P . . . . -1.029 T 0.000 T . -1.348 0.029 -11.6 -4.477 -3.588 9.401 -1.348475 NA 1 0.461163 0.46414 ID=COSM1341222;OCCURENCE=1(large_intestine) 0.362 NA 9.9326704 659 18 8798185 8798185 G A exonic SOGA2 NA nonsynonymous SNV SOGA2:NM_015210:exon10:c.G2332A:p.G778S exonic ENSG00000168502 NA nonsynonymous SNV ENSG00000168502:ENST00000518815:exon3:c.G277A:p.G93S,ENSG00000168502:ENST00000306329:exon8:c.G3289A:p.G1097S,ENSG00000168502:ENST00000517570:exon8:c.G2209A:p.G737S,ENSG00000168502:ENST00000400050:exon9:c.G2209A:p.G737S,ENSG00000168502:ENST00000306285:exon10:c.G277A:p.G93S,ENSG00000168502:ENST00000359865:exon10:c.G2332A:p.G778S NA NA 18p11.22 NA NA NA NA rs12386117 0.08 0.08 0.072 0.0748802 0.1421 0.0228 0.0865 0.0567 0.0757 0.15 0.02 0.09 0.05 0.1158 0.15 0.59 T 0.176 B 0.037 B 0.001 N 0.984 P 0.46 N -0.36 T -1.075 T 0.001 T 0.194 3.42 17.56 4.51 1.404 1.961 11.536 3.420396 3.420396 NA 0.145 0.05606 NA 0.203 NA 9.9304334 659 21 47831509 47831509 A G exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon28:c.A5522G:p.N1841S exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon28:c.A5522G:p.N1841S NA NA 21q22.3 NA NA Name=3 NA rs35940413 0.19 0.19 0.21 0.202875 0.1322 0.004 0.1369 0.5113 0.1104 0.14 0.0035 0.15 0.5 0.1413 0.5 0.78 T 0.0 B 0.0 B 0.755 N 1.000 P -0.695 N 4.92 T -1.067 T 0.000 T 0.021 -2.021 0.006 2.58 0.770 0.260 7.481 -2.02143 NA 0.54 0.129535 0.458428 NA 0.188 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081353.1|RCV000127367.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.9302984 659 7 34979905 34979905 C A exonic DPY19L1 NA nonsynonymous SNV DPY19L1:NM_015283:exon19:c.G1505T:p.G502V exonic ENSG00000173852 NA nonsynonymous SNV ENSG00000173852:ENST00000310974:exon19:c.G1505T:p.G502V Score=410;Name=lod=62 NA 7p14.3 NA NA NA NA rs1637696 0.22 0.22 0.208 0.205272 0.2982 0.129 0.255 0.1589 0.2157 0.3 0.13 0.25 0.2 0.2724 0.33 0.32 T 0.549 P 0.227 B 0.096 N 0.001 P 0.55 N 0.51 T -0.982 T 0.000 T 0.147 1.582 11.25 5.24 2.619 0.945 7.391 1.582436 1.582436 0.29 0.332926 0.18084 NA 0.283 NA 9.9298074 659 10 45496120 45496120 A T exonic C10orf25 NA nonsynonymous SNV C10orf25:NM_001039380:exon1:c.T188A:p.I63N exonic ENSG00000165511 NA nonsynonymous SNV ENSG00000165511:ENST00000298298:exon1:c.T188A:p.I63N NA NA 10q11.21 NA Name=CTCF NA NA rs12269028 0.48 0.48 0.417 0.460463 0.6571 0.371 0.6945 0.2231 0.5051 0.64 0.36 0.67 0.26 0.5984 0.67 0 D 0.981 D 0.654 P . . 1.000 P 0 N 1.12 T -0.934 T 0.000 T 0.331 0.21 5.134 -2.84 -0.646 0.246 3.232 0.2104 NA NA 0.649419 0.325238 NA 0.543 NA 9.9284144 659 17 38062217 38062217 C T exonic GSDMB NA nonsynonymous SNV GSDMB:NM_018530:exon6:c.G844A:p.G282R,GSDMB:NM_001042471:exon8:c.G871A:p.G291R,GSDMB:NM_001165959:exon8:c.G883A:p.G295R,GSDMB:NM_001165958:exon9:c.G910A:p.G304R exonic ENSG00000073605 NA nonsynonymous SNV ENSG00000073605:ENST00000394175:exon6:c.G844A:p.G282R,ENSG00000073605:ENST00000309481:exon8:c.G871A:p.G291R,ENSG00000073605:ENST00000360317:exon8:c.G910A:p.G304R,ENSG00000073605:ENST00000394179:exon8:c.G895A:p.G299R,ENSG00000073605:ENST00000520542:exon8:c.G883A:p.G295R,ENSG00000073605:ENST00000418519:exon9:c.G910A:p.G304R NA NA 17q12 NA NA NA NA rs2305479 0.35 0.35 0.324 0.311102 0.502 0.2817 0.3646 0.1422 0.3354 0.51 0.31 0.38 0.13 0.4222 0.51 0.06 T 1.0 D 0.999 D 0.849 N 1.000 P 1.895 L 1.92 T -0.969 T 0.000 T 0.036 2.061 12.85 -2.46 -0.954 0.110 5.321 2.060971 2.060971 0 0.481279 0.184067 ID=COSM148262;OCCURENCE=1(stomach) 0.304 NA 9.9278544 659 6 76640803 76640803 G A exonic IMPG1 NA nonsynonymous SNV IMPG1:NM_001563:exon15:c.C2110T:p.R704W exonic ENSG00000112706 NA nonsynonymous SNV ENSG00000112706:ENST00000369952:exon2:c.C193T:p.R65W,ENSG00000112706:ENST00000369950:exon15:c.C2110T:p.R704W NA NA 6q14.1 NA NA Name=22 NA rs10943299 0.09 0.09 0.08 0.0898562 0.1402 0.003 0.0821 0.0862 0.138 0.15 NA 0.08 0.1 0.1217 0.15 1 T 0.0 B 0.0 B 0.785 N 0.882 P -1.415 N 2.41 T -0.987 T 0.002 T 0.087 -1.809 0.009 -7.59 -2.374 0.417 8.324 -1.809098 NA 0.58 0.144535 0.095098 NA 0.145 NA 9.9268984 660 19 41384702 41384702 T C exonic CYP2A7 NA nonsynonymous SNV CYP2A7:NM_030589:exon4:c.A641G:p.Q214R,CYP2A7:NM_000764:exon5:c.A794G:p.Q265R exonic ENSG00000198077 NA nonsynonymous SNV ENSG00000198077:ENST00000291764:exon4:c.A641G:p.Q214R,ENSG00000198077:ENST00000301146:exon5:c.A794G:p.Q265R NA NA 19q13.2 Score=848;Name=V$OLF1_01 NA NA NA rs117539170 0.13 0.13 0.083 0.139577 0.2336 0.0456 0.1052 0.1664 0.1278 0.21 0.03 0.1 0.15 0.1758 0.21 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.145 N -0.09 T -1.020 T 0.000 T 0.247 -0.995 0.267 2.18 0.257 1.278 6.428 -0.995466 NA 1 NA NA NA 0.101 NA 9.9239334 660 7 134618710 134618710 A G exonic CALD1 NA nonsynonymous SNV CALD1:NM_033138:exon5:c.A1190G:p.H397R exonic ENSG00000122786 NA nonsynonymous SNV ENSG00000122786:ENST00000361675:exon5:c.A1190G:p.H397R NA NA 7q33 NA Name=PU.1 NA NA rs6973420 0.55 0.55 0.552 0.508387 0.4821 0.8581 0.366 0.4357 0.3742 0.48 0.86 0.38 0.43 0.4739 0.86 . . 0.0 B 0.0 B 0.032 N 1.000 P 0 N 1.63 T -1.012 T 0.000 T 0.008 -1.288 0.04 -4.5 -1.211 -1.464 6.321 -1.287969 NA 0.53 0.453488 0.444394 NA 0.493 NA 9.9238454 660 16 3119304 3119304 A G exonic IL32 NA nonsynonymous SNV IL32:NM_001012636:exon5:c.A488G:p.D163G,IL32:NM_001012634:exon6:c.A455G:p.D152G,IL32:NM_001012635:exon6:c.A455G:p.D152G,IL32:NM_001012632:exon7:c.A515G:p.D172G,IL32:NM_001012718:exon7:c.A515G:p.D172G,IL32:NM_004221:exon7:c.A515G:p.D172G,IL32:NM_001012631:exon8:c.A515G:p.D172G,IL32:NM_001012633:exon8:c.A344G:p.D115G exonic ENSG00000008517 NA nonsynonymous SNV ENSG00000008517:ENST00000548246:exon4:c.A395G:p.D132G,ENSG00000008517:ENST00000551513:exon4:c.A626G:p.D209G,ENSG00000008517:ENST00000382213:exon5:c.A488G:p.D163G,ENSG00000008517:ENST00000548476:exon5:c.A653G:p.D218G,ENSG00000008517:ENST00000008180:exon6:c.A455G:p.D152G,ENSG00000008517:ENST00000396890:exon6:c.A653G:p.D218G,ENSG00000008517:ENST00000526464:exon6:c.A515G:p.D172G,ENSG00000008517:ENST00000529699:exon6:c.A455G:p.D152G,ENSG00000008517:ENST00000530890:exon6:c.A455G:p.D152G,ENSG00000008517:ENST00000531965:exon6:c.A485G:p.D162G,ENSG00000008517:ENST00000534507:exon6:c.A653G:p.D218G,ENSG00000008517:ENST00000548652:exon6:c.A488G:p.D163G,ENSG00000008517:ENST00000548807:exon6:c.A653G:p.D218G,ENSG00000008517:ENST00000552356:exon6:c.A455G:p.D152G,ENSG00000008517:ENST00000552936:exon6:c.A587G:p.D196G,ENSG00000008517:ENST00000325568:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000440815:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000444393:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000525643:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000530538:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000533097:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000552664:exon7:c.A515G:p.D172G,ENSG00000008517:ENST00000396887:exon8:c.A344G:p.D115G,ENSG00000008517:ENST00000528163:exon8:c.A515G:p.D172G,ENSG00000008517:ENST00000529550:exon8:c.A515G:p.D172G,ENSG00000008517:ENST00000549213:exon8:c.A344G:p.D115G,ENSG00000008517:ENST00000551122:exon8:c.A344G:p.D115G NA NA 16p13.3 NA NA NA NA rs2981599 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4135 NA 0.53 T 0.001 B 0.001 B . . 1.000 N 0.345 N 0.46 T -1.046 T 0.060 T 0.453 -0.753 0.809 -2.53 -1.773 -1.447 0.713 -0.752764 NA 0 NA NA ID=COSM1629876;OCCURENCE=1(liver) NA NA 9.9198334 660 10 64927823 64927823 C G exonic JMJD1C NA nonsynonymous SNV JMJD1C:NM_004241:exon23:c.G6894C:p.E2298D,JMJD1C:NM_032776:exon26:c.G7605C:p.E2535D exonic ENSG00000171988 NA nonsynonymous SNV ENSG00000171988:ENST00000402544:exon23:c.G6894C:p.E2298D,ENSG00000171988:ENST00000542921:exon25:c.G7059C:p.E2353D,ENSG00000171988:ENST00000399262:exon26:c.G7605C:p.E2535D Score=613;Name=lod=412 NA 10q21.3 NA NA NA NA rs1935 0.39 0.39 0.384 0.392173 0.4901 0.3601 0.3112 0.2859 0.5256 0.47 0.39 0.37 0.27 0.4457 0.48 0.14 T 0.355 B 0.057 B 0.000 D 0.000 P 1.245 L 0.83 T -0.910 T 0.000 T 0.155 2.789 15.29 3.57 1.279 -0.006 5.196 2.788518 2.788518 0.02 0.478277 0.339658 ID=COSM1128024,COSM1128022;OCCURENCE=1(prostate) 0.355 NA 9.9192564 660 19 14040896 14040896 G A exonic CC2D1A NA nonsynonymous SNV CC2D1A:NM_017721:exon27:c.G2716A:p.A906T exonic ENSG00000132024 NA nonsynonymous SNV ENSG00000132024:ENST00000318003:exon27:c.G2716A:p.A906T,ENSG00000132024:ENST00000589606:exon27:c.G2713A:p.A905T NA NA 19p13.12 NA NA NA NA rs11669628 0.15 0.15 0.124 0.133187 0.1501 0.255 0.111 0.0151 0.1656 0.16 0.25 0.14 0.03 0.1385 0.25 0.31 T 0.074 B 0.003 B 0.712 N 1.000 P 0.345 N 2.31 T -0.923 T 0.000 T 0.056 1.33 10.36 -4.52 -0.388 -2.576 7.893 1.32967 1.32967 0.34 0.125815 0.033215 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116594.2;CLNDSDB=.;CLNDSDBID=. 9.9189184 660 14 94776221 94776221 A C exonic SERPINA6 NA nonsynonymous SNV SERPINA6:NM_001756:exon3:c.T736G:p.S246A exonic ENSG00000170099 NA nonsynonymous SNV ENSG00000170099:ENST00000341584:exon3:c.T736G:p.S246A NA NA 14q32.13 Score=853;Name=V$RFX1_02 NA NA NA rs2228541 0.58 0.58 0.566 0.598043 0.4364 0.9325 0.6816 0.407 0.6186 0.42 0.91 0.65 0.39 0.5247 0.91 0.07 T 0.001 B 0.01 B 0.631 N 1.000 P 1.205 L -2.32 D -0.902 T 0.000 T 0.071 1.98 12.58 -10.7 -1.670 -4.329 0.348 1.979713 1.979713 0.18 0.454651 0.383568 NA 0.558 NA 9.9175824 660 10 38344700 38344700 C G exonic ZNF33A NA nonsynonymous SNV ZNF33A:NM_006954:exon5:c.C1648G:p.Q550E,ZNF33A:NM_006974:exon5:c.C1645G:p.Q549E exonic ENSG00000189180 NA nonsynonymous SNV ENSG00000189180:ENST00000307441:exon4:c.C1645G:p.Q549E,ENSG00000189180:ENST00000432900:exon4:c.C1666G:p.Q556E,ENSG00000189180:ENST00000374618:exon5:c.C1648G:p.Q550E,ENSG00000189180:ENST00000458705:exon5:c.C1645G:p.Q549E Score=414;Name=lod=64 NA 10p11.1 NA Name=KAP1,SETDB1 Name=9 NA rs2505232 0.51 0.51 0.497 0.477037 0.493 0.5754 0.5173 0.5272 0.2628 0.5 0.55 0.5 0.49 0.4463 0.55 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.19 N 2.75 T -0.938 T 0.000 T 0.125 -2.414 0.003 1.68 0.044 4.342 7.605 -2.414126 NA 1 0.477093 0.514753 NA 0.522 NA 9.9169404 660 6 38746176 38746176 G A exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon14:c.G1975A:p.A659T exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon10:c.G1324A:p.A442T,ENSG00000124721:ENST00000359357:exon12:c.G1324A:p.A442T,ENSG00000124721:ENST00000327475:exon13:c.G1939A:p.A647T,ENSG00000124721:ENST00000449981:exon14:c.G1975A:p.A659T Score=536;Name=lod=202 NA 6p21.2 NA NA NA NA rs61748601 0.11 0.11 0.091 0.0852636 0.1362 0.0198 0.2334 0.053 0.0389 0.14 0.02 0.22 0.06 0.1285 0.22 0.66 T 0.0 B 0.005 B 0.003 N 0.056 P -0.775 N 0.5 T -1.007 T 0.017 T 0.04 0.319 5.727 3.55 1.222 0.659 4.767 0.318627 NA 0.58 0.151815 0.065138 NA 0.181 NA 9.9168184 661 12 108985945 108985945 A G exonic TMEM119 NA nonsynonymous SNV TMEM119:NM_181724:exon2:c.T215C:p.I72T exonic ENSG00000183160 NA nonsynonymous SNV ENSG00000183160:ENST00000392806:exon2:c.T215C:p.I72T,ENSG00000183160:ENST00000549031:exon3:c.T215C:p.I72T Score=284;Name=lod=19 NA 12q23.3 NA NA NA NA rs7975237 0.61 0.61 0.606 0.655551 0.4433 0.8532 0.4539 0.7542 0.68 0.43 0.85 0.48 0.69 0.527 0.85 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.125 N 1.1 T -0.962 T 0.000 T 0.204 -1.224 0.061 4.59 1.089 1.977 10.659 -1.223836 NA 1 0.449419 0.721516 NA 0.587 NA 9.9136144 661 2 218745685 218745685 G A exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon16:c.C990T:p.S330S exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000310858:exon13:c.C1083T:p.S361S,ENSG00000079308:ENST00000413554:exon13:c.C1194T:p.S398S,ENSG00000079308:ENST00000419504:exon15:c.C990T:p.S330S,ENSG00000079308:ENST00000430930:exon15:c.C990T:p.S330S,ENSG00000079308:ENST00000171887:exon16:c.C990T:p.S330S,ENSG00000079308:ENST00000446903:exon18:c.C1365T:p.S455S Score=565;Name=lod=263 NA 2q35 Score=765;Name=V$PAX4_04 NA NA NA rs10199795 0.58 0.58 0.577 0.530751 0.6074 0.5347 0.536 0.584 0.3722 0.61 0.54 0.58 0.56 0.5426 0.61 . . . . . . . . 0.000 P . . . . . . . . . 1.234 10.01 -5.36 -0.981 -4.843 5.595 1.233765 1.233765 NA 0.604302 0.585111 ID=COSM149063;OCCURENCE=1(stomach) 0.406 NA 9.9123646 661 3 41996136 41996136 T C exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon2:c.A116G:p.K39R exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon2:c.A116G:p.K39R,ENSG00000168038:ENST00000414606:exon2:c.A116G:p.K39R,ENSG00000168038:ENST00000420927:exon2:c.A116G:p.K39R,ENSG00000168038:ENST00000431379:exon2:c.A116G:p.K39R,ENSG00000168038:ENST00000453224:exon2:c.A116G:p.K39R Score=581;Name=lod=305 Name=Multiple myeloma (hyperdiploidy) 3p22.1 NA NA NA NA rs2272007 0.7 0.7 0.653 0.682109 0.8091 0.8512 0.8098 0.2821 0.8272 0.8 0.84 0.8 0.29 0.7869 0.84 0.41 T 0.205 B 0.132 B 0.000 N 0.042 P -0.635 N -0.19 T -1.015 T 0.000 T 0.125 1.106 9.511 4.4 1.058 3.866 11.703 1.105636 NA 0.29 0.82503 0.358431 ID=COSM1131441,COSM1131440;OCCURENCE=1(prostate) 0.652 NA 9.9123034 661 16 66614008 66614008 T C exonic CMTM2 NA nonsynonymous SNV CMTM2:NM_144673:exon2:c.T365C:p.I122T exonic ENSG00000140932 NA nonsynonymous SNV ENSG00000140932:ENST00000268595:exon2:c.T365C:p.I122T NA NA 16q21 NA NA NA NA rs2290182 0.22 0.22 0.227 0.236621 0.1302 0.3036 0.2421 0.2663 0.2331 0.13 0.29 0.24 0.27 0.1799 0.29 0.35 T 0.058 B 0.063 B 0.057 N 1.000 P 1.355 L 1.43 T -1.023 T 0.000 T 0.073 2.595 14.64 3.42 1.059 3.042 6.694 2.595383 2.595383 0.06 0.11314 0.26647 NA 0.188 NA 9.9100934 661 5 140720516 140720516 C G exonic PCDHGA2 NA nonsynonymous SNV PCDHGA2:NM_018915:exon1:c.C1978G:p.L660V,PCDHGA2:NM_032009:exon1:c.C1978G:p.L660V exonic ENSG00000081853 NA nonsynonymous SNV ENSG00000081853:ENST00000394576:exon1:c.C1978G:p.L660V NA NA 5q31.3 Score=798;Name=V$PAX3_01 Name=NRSF NA NA rs11575969 0.39 0.39 0.259 0.385982 0.4722 0.5903 0.4222 0.0204 0.5552 0.46 0.59 0.41 0.04 0.4697 0.59 0.37 T 0.092 B 0.182 B 0.070 U 0.000 P -0.175 N 0.55 T -0.935 T 0.000 T 0.092 -0.128 3.374 2.01 0.676 -1.561 3.494 -0.127759 NA 0.3 0.484353 0.096811 NA 0.333 NA 9.9070804 661 3 190106074 190106074 G C exonic CLDN16 NA nonsynonymous SNV CLDN16:NM_006580:exon1:c.G166C:p.A56P exonic ENSG00000113946 NA nonsynonymous SNV ENSG00000113946:ENST00000264734:exon1:c.G166C:p.A56P,ENSG00000113946:ENST00000456423:exon1:c.G166C:p.A56P NA NA 3q28 NA NA NA NA rs3214506 NA NA NA 0.117013 0.2336 0.0208 0.1455 0.0681 0.1421 NA NA NA NA 0.1945 NA 0.2 T 0.006 B 0.015 B 0.187 N 1.000 N 0.55 N -2.9 D -0.495 T 0.543 D 0.302 0.449 6.438 -3.93 -0.435 -0.121 0.443 0.448874 NA 0.15 NA NA NA NA NA 9.9052334 662 1 221057739 221057739 C G exonic HLX NA nonsynonymous SNV HLX:NM_021958:exon4:c.C1160G:p.A387G exonic ENSG00000136630 NA nonsynonymous SNV ENSG00000136630:ENST00000549319:exon2:c.C518G:p.A173G,ENSG00000136630:ENST00000366903:exon4:c.C1160G:p.A387G,ENSG00000136630:ENST00000427693:exon4:c.C359G:p.A120G Score=569;Name=lod=275 NA 1q41 NA NA NA NA rs11578466 0.1 0.1 0.085 0.0746805 0.162 0.001 0.1066 0.0719 0.0419 0.16 NA 0.12 0.09 0.1188 0.16 0.21 T 0.012 B 0.021 B 0.132 N 0.207 P 0.255 N 0.61 T -0.959 T 0.004 T 0.142 3.293 17.06 3.16 0.642 1.083 8.363 3.292686 3.292686 0.12 0.149651 0.079664 NA 0.094 NA 9.9028824 662 4 99808254 99808254 G A exonic EIF4E NA synonymous SNV EIF4E:NM_001130678:exon5:c.C435T:p.D145D,EIF4E:NM_001130679:exon5:c.C375T:p.D125D,EIF4E:NM_001968:exon5:c.C375T:p.D125D exonic ENSG00000151247 NA synonymous SNV ENSG00000151247:ENST00000280892:exon5:c.C435T:p.D145D,ENSG00000151247:ENST00000450253:exon5:c.C375T:p.D125D,ENSG00000151247:ENST00000505992:exon5:c.C375T:p.D125D,ENSG00000151247:ENST00000504432:exon6:c.C459T:p.D153D Score=673;Name=lod=727 NA 4q23 Score=924;Name=V$RORA1_01 NA NA NA rs62323192 0.12 0.12 0.122 0.109425 0.2734 0.001 0.1455 0.0144 0.1554 0.27 0.0017 0.15 0.02 0.2065 0.29 . . . . . . . . 0.000 P . . . . -1.041 T 0.000 T . 1.304 10.27 4.14 0.823 4.700 9.897 1.303728 1.303728 NA 0.287442 0.052202 ID=COSM1130974;OCCURENCE=1(prostate) 0.203 NA 9.8993246 662 1 47767914 47767914 G A exonic STIL NA nonsynonymous SNV STIL:NM_001048166:exon4:c.C257T:p.A86V,STIL:NM_003035:exon4:c.C257T:p.A86V exonic ENSG00000123473 NA nonsynonymous SNV ENSG00000123473:ENST00000413565:exon2:c.C269T:p.A90V,ENSG00000123473:ENST00000243182:exon4:c.C257T:p.A86V,ENSG00000123473:ENST00000337817:exon4:c.C257T:p.A86V,ENSG00000123473:ENST00000371877:exon4:c.C257T:p.A86V,ENSG00000123473:ENST00000396221:exon4:c.C257T:p.A86V,ENSG00000123473:ENST00000360380:exon5:c.C257T:p.A86V,ENSG00000123473:ENST00000447475:exon5:c.C257T:p.A86V Score=473;Name=lod=112 NA 1p33 NA NA NA NA rs3125630 0.61 0.61 0.628 0.60643 0.4553 0.5675 0.5937 0.8805 0.4407 0.47 0.59 0.57 0.86 0.5034 0.86 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.28 N 1.87 T -0.967 T 0.000 T 0.351 -0.118 3.42 5.42 0.891 5.182 10.116 -0.118387 NA 1 0.476977 0.819791 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_7;CLNREVSTAT=single;CLNACC=RCV000020526.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C2675187:612703:ORPHA2512 9.8976564 662 13 78188078 78188078 A G exonic SCEL NA nonsynonymous SNV SCEL:NM_001160706:exon22:c.A1313G:p.K438R,SCEL:NM_003843:exon23:c.A1379G:p.K460R,SCEL:NM_144777:exon24:c.A1439G:p.K480R exonic ENSG00000136155 NA nonsynonymous SNV ENSG00000136155:ENST00000535157:exon22:c.A1313G:p.K438R,ENSG00000136155:ENST00000377246:exon23:c.A1379G:p.K460R,ENSG00000136155:ENST00000349847:exon24:c.A1439G:p.K480R Score=403;Name=lod=58 NA 13q22.3 NA NA NA NA rs8002725 0.19 0.19 0.199 0.215855 0.1183 0.1409 0.1729 0.3903 0.1881 0.11 0.14 0.19 0.36 0.17 0.36 0.53 T 0.003 B 0.011 B 0.001 N 0.992 P 1.725 L 1.84 T -1.040 T 0.000 T 0.085 0.782 8.124 3.93 0.883 1.211 8.176 0.781687 NA 0.02 0.149302 0.355197 NA 0.268 NA 9.8957314 663 3 41831203 41831203 C T exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon21:c.G2143A:p.A715T exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon21:c.G2143A:p.A715T Score=468;Name=lod=106 NA 3p22.1 Score=872;Name=V$RORA1_01 NA NA NA rs17215589 0.09 0.09 0.094 0.0814696 0.166 0.002 0.0879 0.0552 0.1074 0.18 0.0035 0.08 0.06 0.1241 0.18 1 T 0.001 B 0.002 B 0.002 N 0.000 P -0.49 N -0.19 T -1.056 T 0.000 T 0.075 -0.314 2.507 2.31 -0.047 -0.189 4.546 -0.313897 NA 1 0.150376 0.065735 NA 0.13 NA 9.8928574 663 16 716273 716273 T C exonic WDR90 NA nonsynonymous SNV WDR90:NM_145294:exon37:c.T4663C:p.C1555R exonic ENSG00000161996 NA nonsynonymous SNV ENSG00000161996:ENST00000315764:exon3:c.T460C:p.C154R,ENSG00000161996:ENST00000547944:exon3:c.T460C:p.C154R,ENSG00000161996:ENST00000293879:exon37:c.T4663C:p.C1555R,ENSG00000161996:ENST00000549091:exon37:c.T4669C:p.C1557R NA NA 16p13.3 Score=832;Name=V$NGFIC_01 NA NA NA rs11866949 0.32 0.32 0.306 0.360623 0.1163 0.3224 0.2133 0.7927 0.1718 0.1 0.32 0.17 0.76 0.2002 0.76 0.62 T 0.0 B 0.001 B 0.152 N 1.000 P -1.1 N 3.57 T -0.993 T 0.000 T 0.078 -0.257 2.766 -3.8 -0.600 -1.058 6.673 -0.25687 NA 0.19 0.12527 0.632367 NA 0.304 NA 9.8915634 663 22 42416056 42416056 A G exonic WBP2NL NA nonsynonymous SNV WBP2NL:NM_152613:exon4:c.A362G:p.D121G exonic ENSG00000183066 NA nonsynonymous SNV ENSG00000183066:ENST00000543212:exon2:c.A140G:p.D47G,ENSG00000183066:ENST00000328823:exon4:c.A362G:p.D121G,ENSG00000183066:ENST00000329620:exon4:c.A362G:p.D121G,ENSG00000183066:ENST00000412113:exon4:c.A362G:p.D121G,ENSG00000183066:ENST00000436265:exon4:c.A362G:p.D121G Score=397;Name=lod=55 NA 22q13.2 NA NA NA NA rs133335 0.56 0.56 0.565 0.546126 0.4791 0.8641 0.3631 0.4697 0.5204 0.48 0.85 0.35 0.49 0.4998 0.85 1 T 0.0 B 0.0 B 0.000 N 0.998 P -2.505 N 3.93 T -1.000 T 0.000 T 0.203 -0.769 0.762 5.23 1.454 5.333 13.100 -0.7691 NA 1 0.464186 0.480708 NA 0.362 NA 9.8902474 663 17 6683684 6683684 A G exonic FBXO39 NA nonsynonymous SNV FBXO39:NM_153230:exon2:c.A497G:p.Y166C exonic ENSG00000177294 NA nonsynonymous SNV ENSG00000177294:ENST00000321535:exon2:c.A497G:p.Y166C NA NA 17p13.1 NA NA NA NA rs16956264 0.14 0.14 0.121 0.131989 0.162 0.002 0.219 0.1755 0.1145 0.18 0.0017 0.19 0.18 0.1466 0.2 0.18 T 0.0 B 0.001 B 0.152 N 1.000 P 0.345 N 0.6 T -1.082 T 0.000 T 0.1 -0.23 2.889 3.36 1.041 1.871 5.275 -0.229983 NA 0.1 0.135 0.195642 NA 0.109 NA 9.8897334 663 19 35617270 35617270 T C exonic LGI4 NA synonymous SNV LGI4:NM_139284:exon8:c.A1203G:p.T401T exonic ENSG00000153902 NA nonsynonymous SNV ENSG00000153902:ENST00000392225:exon7:c.A1280G:p.Q427R NA NA 19q13.12 NA NA NA NA rs1319969 0.32 0.32 0.301 0.366414 0.3708 0.2669 0.2493 0.3359 0.589 0.38 0.24 0.23 0.37 0.3873 0.38 0 D . . . . . . 0.000 P . . -0.17 T -0.962 T 0.000 T . 0.955 8.894 -9.02 -2.941 -4.585 10.368 0.954608 NA 0 0.356512 0.355424 ID=COSM439239;OCCURENCE=1(breast) 0.348 NA 9.885388 663 19 53770764 53770764 G A exonic VN1R4 NA nonsynonymous SNV VN1R4:NM_173857:exon1:c.C155T:p.A52V exonic ENSG00000228567 NA nonsynonymous SNV ENSG00000228567:ENST00000311170:exon1:c.C155T:p.A52V NA NA 19q13.42 NA NA NA NA rs74429916 0.21 0.21 0.148 NA NA NA NA NA NA 0.23 0.08 0.2 0.32 0.2157 0.32 0.01 D 0.995 D 0.919 D 0.005 U 1.000 P 1.76 L 0.87 T -1.047 T 0.000 T 0.075 2.667 14.88 0.080 0.118 0.705 4.793 2.666556 2.666556 0 0.23255 0.271675 NA NA NA 9.8850834 663 1 151108137 151108137 T G exonic SEMA6C NA nonsynonymous SNV SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P exonic ENSG00000143434 NA nonsynonymous SNV ENSG00000143434:ENST00000368912:exon13:c.A1243C:p.T415P,ENSG00000143434:ENST00000341697:exon14:c.A1363C:p.T455P,ENSG00000143434:ENST00000368913:exon14:c.A1363C:p.T455P,ENSG00000143434:ENST00000368914:exon14:c.A1363C:p.T455P Score=501;Name=lod=145 NA 1q21.3 NA Name=CTCF Name=7 NA rs4971007 0.83 0.83 0.834 0.823482 0.8201 0.9048 0.8084 0.7632 0.8354 0.82 0.9 0.82 0.78 0.8189 0.9 0.36 T 0.0 B 0.0 B 0.000 N 0.990 P 0.975 L 2.84 T -0.967 T 0.009 T 0.098 1.981 12.58 4.64 0.974 0.899 10.287 1.98054 1.98054 0.58 0.809302 0.778484 NA 0.812 NA 9.8850314 664 8 144654255 144654255 A G exonic MROH6 NA nonsynonymous SNV MROH6:NM_001100878:exon2:c.T395C:p.V132A exonic ENSG00000204839 NA nonsynonymous SNV ENSG00000204839:ENST00000398882:exon2:c.T395C:p.V132A,ENSG00000204839:ENST00000529971:exon2:c.T395C:p.V132A NA NA 8q24.3 Score=875;Name=V$GR_Q6 Name=ZNF263 Name=10 NA rs4874153 0.8 0.8 0.781 0.773762 0.8231 0.9058 0.7349 0.6657 0.7607 0.82 0.89 0.74 0.72 0.7955 0.89 1 T 0.0 B 0.0 B . . 0.043 P 0 N 4.19 T -0.975 T 0.000 T 0.105 0.682 7.647 4.3 1.035 0.671 8.222 0.682093 NA 0.61 0.830663 0.69822 ID=COSM454146,COSM454147;OCCURENCE=1(breast) 0.645 NA 9.8840704 664 6 31842598 31842598 T A exonic SLC44A4 NA nonsynonymous SNV SLC44A4:NM_001178045:exon6:c.A140T:p.D47V,SLC44A4:NM_025257:exon6:c.A368T:p.D123V exonic ENSG00000204385 NA nonsynonymous SNV ENSG00000204385:ENST00000229729:exon6:c.A368T:p.D123V,ENSG00000204385:ENST00000544672:exon6:c.A140T:p.D47V NA NA 6p21.33 NA NA NA NA rs12661281 0.11 0.11 0.105 0.0944489 0.1491 0.1022 0.183 0.0068 0.0859 0.14 0.12 0.19 0.01 0.1471 0.19 0.09 T 0.0 B 0.001 B 0.001 N 1.000 P 0.205 N 2.2 T -1.050 T 0.018 T 0.156 1.549 11.13 -9.67 -2.288 -3.226 10.170 1.549042 1.549042 0.17 0.153721 0.028824 NA 0.174 NA 9.8834124 664 14 34269167 34269167 G C exonic NPAS3 NA nonsynonymous SNV NPAS3:NM_001165893:exon11:c.G1564C:p.A522P,NPAS3:NM_022123:exon11:c.G1558C:p.A520P,NPAS3:NM_001164749:exon12:c.G1654C:p.A552P,NPAS3:NM_173159:exon12:c.G1615C:p.A539P exonic ENSG00000151322 NA nonsynonymous SNV ENSG00000151322:ENST00000346562:exon11:c.G1558C:p.A520P,ENSG00000151322:ENST00000548645:exon11:c.G1564C:p.A522P,ENSG00000151322:ENST00000551634:exon11:c.G1576C:p.A526P,ENSG00000151322:ENST00000356141:exon12:c.G1654C:p.A552P,ENSG00000151322:ENST00000357798:exon12:c.G1615C:p.A539P,ENSG00000151322:ENST00000551492:exon12:c.G1669C:p.A557P Score=622;Name=lod=449 NA 14q13.1 NA NA NA NA rs12434716 0.13 0.13 0.105 0.121605 0.1491 0.0099 0.2075 0.1876 0.0583 0.14 0.01 0.22 0.19 0.1421 0.22 1 T 0.0 B 0.0 B 0.099 N 0.000 P -0.345 N 3.39 T -1.074 T 0.000 T 0.054 0.081 4.439 2.01 0.590 1.052 5.187 0.081186 NA 1 0.15907 0.195869 NA 0.101 NA 9.8830634 664 18 9117867 9117867 T C exonic NDUFV2 NA nonsynonymous SNV NDUFV2:NM_021074:exon2:c.T86C:p.V29A exonic ENSG00000178127 NA nonsynonymous SNV ENSG00000178127:ENST00000318388:exon2:c.T86C:p.V29A,ENSG00000178127:ENST00000400033:exon3:c.T95C:p.V32A Score=567;Name=lod=268 NA 18p11.22 NA NA NA NA rs906807 0.76 0.76 0.737 0.778954 0.831 0.7063 0.8026 0.7368 0.8405 0.82 0.67 0.79 0.74 0.8001 0.82 1 T 0.0 B 0.0 B 0.003 N 0.000 P -1.465 N 1.02 T -0.966 T 0.000 T 0.042 -0.511 1.661 4.67 1.497 1.537 11.855 -0.511449 NA NA 0.819409 0.760781 NA 0.761 CLINSIG=unknown|probable-non-pathogenic|non-pathogenic;CLNDBN=Parkinson_disease\x2c_mitochondrial|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000009621.1|RCV000117718.2|RCV000127170.1;CLNDSDB=GeneReviews:MedGen:OMIM|.|.;CLNDSDBID=NBK1223:C1838867:556500|.|. 9.8828244 664 3 183755822 183755822 G A exonic HTR3D NA nonsynonymous SNV HTR3D:NM_182537:exon4:c.G155A:p.R52H,HTR3D:NM_001145143:exon6:c.G530A:p.R177H,HTR3D:NM_001163646:exon6:c.G674A:p.R225H exonic ENSG00000186090 NA nonsynonymous SNV ENSG00000186090:ENST00000453435:exon2:c.G17A:p.R6H,ENSG00000186090:ENST00000334128:exon4:c.G155A:p.R52H,ENSG00000186090:ENST00000382489:exon6:c.G674A:p.R225H,ENSG00000186090:ENST00000428798:exon6:c.G530A:p.R177H Score=488;Name=lod=128 NA 3q27.1 NA Name=CTCF_(SC-5916),CTCF Name=4 NA rs1000952 0.76 0.76 0.809 0.763978 0.6531 0.9167 0.7061 0.8623 0.6288 0.64 0.92 0.67 0.83 0.6623 0.92 0.02 D 0.998 D 0.753 P 0.000 N 0.983 P 1.73 L -0.94 T -0.944 T 0.000 T 0.147 -0.091 3.556 0.149 0.192 0.251 . -0.090615 NA 0.04 0.635116 0.822969 NA 0.862 NA 9.8828174 664 17 8161149 8161149 C T exonic PFAS NA nonsynonymous SNV PFAS:NM_012393:exon10:c.C1100T:p.P367L exonic ENSG00000178921 NA nonsynonymous SNV ENSG00000178921:ENST00000314666:exon10:c.C1100T:p.P367L NA NA 17p13.1 NA NA NA NA rs4791641 0.35 0.35 0.312 0.338858 0.5288 0.2272 0.3184 0.2292 0.4213 0.54 0.22 0.36 0.22 0.4346 0.54 0 D 0.0 B 0.004 B 0.001 N 0.000 P 1.575 L 1.04 T -0.939 T 0.000 T 0.072 2.458 14.18 4.82 1.467 1.652 12.428 2.458258 2.458258 NA 0.488721 0.279165 NA 0.471 NA 9.8812124 664 11 5373497 5373497 G C exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.G760C:p.V254L exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.G760C:p.V254L NA NA 11p15.4 NA NA NA NA rs7106330 0.12 0.12 0.097 0.105431 0.1541 0.0754 0.1599 0.0303 0.1493 0.17 0.09 0.16 0.05 0.1462 0.17 0.04 D 0.082 B 0.098 B 0.031 N 0.999 P -0.44 N 1.47 T -1.065 T 0.000 T 0.187 1.757 11.83 3.98 1.272 -0.090 5.133 1.757108 1.757108 0.07 0.151966 0.054748 NA 0.167 NA 9.8810674 664 1 182026813 182026813 G C exonic ZNF648 NA nonsynonymous SNV ZNF648:NM_001009992:exon2:c.C333G:p.N111K exonic ENSG00000179930 NA nonsynonymous SNV ENSG00000179930:ENST00000339948:exon2:c.C333G:p.N111K NA NA 1q25.3 NA NA NA NA rs12568050 0.17 0.17 0.163 0.176917 0.1471 0.2837 0.121 0.09 0.2546 0.15 0.28 0.11 0.12 0.1683 0.28 0.84 T 0.001 B 0.002 B . . 1.000 P 0 N 3.32 T -0.937 T 0.000 T 0.021 0.178 4.957 -4.0 -1.686 -2.038 6.409 0.177723 NA 0.14 0.136977 0.097367 NA 0.196 NA 9.8809564 664 9 15784631 15784631 A G exonic CCDC171 NA nonsynonymous SNV CCDC171:NM_173550:exon21:c.A3206G:p.K1069R exonic ENSG00000164989 NA nonsynonymous SNV ENSG00000164989:ENST00000297641:exon21:c.A3206G:p.K1069R,ENSG00000164989:ENST00000380701:exon21:c.A3206G:p.K1069R Score=616;Name=lod=426 NA 9p22.3 NA NA NA NA rs1539172 0.44 0.44 0.457 0.474441 0.4742 0.3651 0.3703 0.5439 0.5675 0.48 0.35 0.39 0.54 0.4786 0.56 1 T 0.0 B 0.002 B 0.000 N 0.000 P -0.145 N -0.34 T -0.945 T 0.000 T 0.181 -0.27 2.706 4.13 1.268 3.377 7.667 -0.269904 NA 1 0.499651 0.558356 NA 0.428 NA 9.8808824 664 10 129917560 129917560 T C exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon5:c.A311G:p.N104S,MKI67:NM_002417:exon5:c.A311G:p.N104S exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon5:c.A311G:p.N104S,ENSG00000148773:ENST00000368654:exon5:c.A311G:p.N104S NA NA 10q26.2 NA NA NA NA rs2071498 0.65 0.65 0.637 0.633986 0.665 0.6389 0.719 0.5802 0.6094 0.66 0.63 0.69 0.62 0.6476 0.69 . . 0.982 D 0.702 P 0.256 N 1.000 P 0.695 N 5.13 T -1.094 T 0.000 T 0.01 2.889 15.63 3.64 1.890 1.414 8.955 2.889073 2.889073 0.16 0.641279 0.564062 NA 0.522 NA 9.8794544 664 6 150240829 150240829 G C exonic RAET1G NA nonsynonymous SNV RAET1G:NM_001001788:exon2:c.C209G:p.T70R exonic ENSG00000203722 NA nonsynonymous SNV ENSG00000203722:ENST00000367360:exon2:c.C209G:p.T70R,ENSG00000203722:ENST00000367361:exon2:c.C209G:p.T70R,ENSG00000203722:ENST00000479265:exon2:c.C209G:p.T70R NA NA 6q25.1 NA NA NA NA rs9397449 0.23 0.23 0.208 0.226038 0.1501 0.5317 0.111 0.1021 0.2382 0.13 0.54 0.13 0.1 0.1724 0.54 1 T 0.059 B 0.066 B . . 1.000 P 0.895 L 6.13 T -0.939 T 0.000 T 0.062 -0.347 2.358 -2.05 -0.955 -2.137 0.992 -0.34724 NA 0.1 0.131395 0.111666 NA 0.268 NA 9.8794384 664 11 100998771 100998771 C G exonic PGR NA nonsynonymous SNV PGR:NM_000926:exon1:c.G1031C:p.S344T,PGR:NM_001202474:exon1:c.G539C:p.S180T,PGR:NM_001271161:exon1:c.G539C:p.S180T exonic ENSG00000082175 NA nonsynonymous SNV ENSG00000082175:ENST00000263463:exon1:c.G1031C:p.S344T,ENSG00000082175:ENST00000325455:exon1:c.G1031C:p.S344T,ENSG00000082175:ENST00000526300:exon1:c.G1031C:p.S344T,ENSG00000082175:ENST00000528960:exon1:c.G1031C:p.S344T,ENSG00000082175:ENST00000534780:exon1:c.G1031C:p.S344T Score=309;Name=lod=24 NA 11q22.1 NA Name=E2F6,SUZ12,HA-E2F1 Name=14 NA rs3740753 0.1 0.1 0.093 0.0720847 0.1769 0.0099 0.1398 0.0061 0.0695 0.19 0.01 0.15 0.01 0.1294 0.19 0.22 T 0.15 B 0.053 B 0.825 N 0.000 P 0.805 L 2.89 T -0.937 T 0.000 T 0.064 0.674 7.606 1.76 0.816 -0.179 5.448 0.673794 NA 0 0.15006 0.025469 NA 0.065 NA 9.8769734 664 14 39556185 39556185 G C exonic SEC23A NA nonsynonymous SNV SEC23A:NM_006364:exon6:c.C631G:p.L211V exonic ENSG00000100934 NA nonsynonymous SNV ENSG00000100934:ENST00000537403:exon2:c.C25G:p.L9V,ENSG00000100934:ENST00000536508:exon5:c.C253G:p.L85V,ENSG00000100934:ENST00000545328:exon5:c.C544G:p.L182V,ENSG00000100934:ENST00000307712:exon6:c.C631G:p.L211V Score=581;Name=lod=306 NA 14q21.1 Score=796;Name=V$MEF2_03 NA NA NA rs8018720 0.78 0.78 0.781 0.778754 0.827 0.6488 0.7579 0.8638 0.7628 0.82 0.63 0.81 0.87 0.8042 0.88 0.64 T 0.0 B 0.0 B 0.000 N 0.000 P 0.835 L -1.26 T -0.966 T 0.000 T 0.046 0.997 9.072 4.77 1.433 2.531 12.047 0.997209 NA 0.82 0.826047 0.856332 NA 0.913 NA 9.8760864 665 9 140243968 140243968 C T exonic EXD3 NA nonsynonymous SNV EXD3:NM_017820:exon15:c.G1510A:p.V504M exonic ENSG00000187609 NA nonsynonymous SNV ENSG00000187609:ENST00000340951:exon15:c.G1510A:p.V504M,ENSG00000187609:ENST00000342129:exon15:c.G550A:p.V184M NA NA 9q34.3 NA NA NA NA rs79140116 0.13 0.13 0.083 0.104633 0.1541 0.0427 0.2695 0.0507 0.0736 0.16 0.05 0.29 0.05 0.166 0.29 0.11 T 0.015 B 0.0 B 0.008 N 1.000 P -0.375 N -0.3 T -1.108 T 0.000 T 0.023 -0.112 3.449 -5.44 -1.820 -1.924 1.161 -0.112483 NA 0.25 0.142041 0.060019 NA 0.058 NA 9.8711924 665 9 79320847 79320847 G C exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.C6343G:p.Q2115E exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.C6343G:p.Q2115E,ENSG00000106772:ENST00000428286:exon8:c.C5266G:p.Q1756E Score=289;Name=lod=20 NA 9q21.2 NA NA NA NA rs2077181 0.26 0.26 0.256 0.23762 0.1551 0.4653 0.1599 0.2103 0.18 0.15 0.5 0.14 0.22 0.1846 0.5 0.19 T 0.055 B 0.012 B 0.064 N 0.000 P 1.59 L 0.89 T -0.940 T 0.000 T 0.158 -0.137 3.328 5.09 2.854 0.801 12.296 -0.137372 NA 0.25 0.123116 0.200255 NA 0.167 NA 9.8705174 665 22 46655948 46655948 T C exonic PKDREJ NA nonsynonymous SNV PKDREJ:NM_006071:exon1:c.A3272G:p.N1091S exonic ENSG00000130943 NA nonsynonymous SNV ENSG00000130943:ENST00000253255:exon1:c.A3272G:p.N1091S NA NA 22q13.31 NA NA NA NA rs6008384 0.22 0.22 0.245 0.245407 0.16 0.001 0.134 0.6785 0.0787 0.15 NA 0.15 0.63 0.1605 0.63 0.89 T 0.004 B 0.002 B 0.564 N 1.000 P -0.95 N 1.31 T -0.993 T 0.000 T 0.038 -1.216 0.065 -8.26 -1.777 -2.624 8.673 -1.215526 NA 0.77 0.146395 0.602814 NA 0.304 NA 9.8664384 666 15 90128966 90128966 C T exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon4:c.C1204T:p.R402W exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon4:c.C1204T:p.R402W,ENSG00000140534:ENST00000560985:exon4:c.C1201T:p.R401W Score=436;Name=lod=79 NA 15q26.1 Score=816;Name=V$PAX4_01 NA NA NA rs11629584 0.38 0.38 0.369 0.361621 0.5129 0.2331 0.3775 0.2905 0.4233 0.51 0.26 0.43 0.27 0.4588 0.51 0.25 T 0.0 B 0.0 B 0.121 N 1.000 P -1.87 N 2.68 T -0.973 T 0.000 T 0.25 2.256 13.5 5.25 0.937 1.751 9.935 2.255768 2.255768 0.24 0.497337 0.333077 ID=COSM147976;OCCURENCE=1(stomach) 0.355 NA 9.8642964 666 1 223284599 223284599 T C exonic TLR5 NA nonsynonymous SNV TLR5:NM_003268:exon6:c.A1775G:p.N592S exonic ENSG00000187554 NA nonsynonymous SNV ENSG00000187554:ENST00000342210:exon4:c.A1775G:p.N592S,ENSG00000187554:ENST00000540964:exon4:c.A1775G:p.N592S,ENSG00000187554:ENST00000366881:exon6:c.A1775G:p.N592S NA NA 1q41 NA NA NA NA rs2072493 0.17 0.17 0.145 0.140176 0.162 0.2728 0.2089 0.0045 0.1155 0.17 0.28 0.19 0.01 0.1487 0.28 0.76 T 0.0 B 0.0 B 0.001 N 1.000 P 0.155 N 1.91 T -1.004 T 0.000 T 0.019 -1.858 0.009 -10.0 -1.542 -2.960 0.577 -1.85816 NA 0.77 0.159651 0.032683 ID=COSM146787;OCCURENCE=1(stomach) 0.109 CLINSIG=other;CLNDBN=Legionellosis;CLNREVSTAT=single;CLNACC=RCV000007039.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1837872:608556 9.8629824 666 2 47251469 47251469 G C exonic TTC7A NA nonsynonymous SNV TTC7A:NM_020458:exon14:c.G1612C:p.V538L exonic ENSG00000068724 NA nonsynonymous SNV ENSG00000068724:ENST00000263737:exon13:c.G550C:p.V184L,ENSG00000068724:ENST00000319190:exon14:c.G1612C:p.V538L,ENSG00000068724:ENST00000394850:exon14:c.G1612C:p.V538L,ENSG00000068724:ENST00000409245:exon15:c.G1510C:p.V504L Score=493;Name=lod=134 NA 2p21 NA NA NA NA rs2304290 0.27 0.27 0.259 0.270168 0.1332 0.6032 0.196 0.2156 0.1943 0.14 0.59 0.2 0.18 0.198 0.59 1 T 0.002 B 0.003 B 0.001 N 0.000 P -1.18 N 0.99 T -0.923 T 0.000 T 0.168 -1.344 0.029 2.57 0.626 1.360 1.978 -1.344233 NA 1 0.141279 0.228779 NA 0.203 NA 9.8608544 666 7 30795288 30795288 A G exonic INMT NA nonsynonymous SNV INMT:NM_001199219:exon3:c.A610G:p.M204V,INMT:NM_006774:exon3:c.A613G:p.M205V exonic ENSG00000241644 NA nonsynonymous SNV ENSG00000241644:ENST00000013222:exon3:c.A613G:p.M205V,ENSG00000241644:ENST00000409539:exon3:c.A610G:p.M204V Score=346;Name=lod=34 NA 7p14.3 Score=874;Name=V$YY1_01 Name=CTCF NA NA rs2302339 0.23 0.23 0.218 0.246406 0.3499 0.1677 0.245 0.1293 0.3804 0.36 0.16 0.26 0.12 0.2932 0.36 0.6 T 0.622 P 0.318 B 0.006 N 0.999 P 1.54 L 3.04 T -0.922 T 0.000 T 0.211 1.317 10.32 1.28 0.137 0.540 6.598 1.317284 1.317284 0.07 0.329535 0.154108 ID=COSM1600335;OCCURENCE=1(central_nervous_system) 0.188 NA 9.8606984 666 17 51901643 51901643 C T exonic KIF2B NA nonsynonymous SNV KIF2B:NM_032559:exon1:c.C1249T:p.P417S exonic ENSG00000141200 NA nonsynonymous SNV ENSG00000141200:ENST00000268919:exon1:c.C1249T:p.P417S Score=278;Name=lod=18 NA 17q22 Score=794;Name=V$MEIS1AHOXA9_01 NA NA NA rs4561518 0.81 0.81 0.827 0.760184 0.834 0.8145 0.7608 0.789 0.589 0.84 0.8 0.77 0.8 0.7988 0.84 1 T 0.0 B 0.0 B 0.001 N 0.996 P -2.16 N -0.77 T -0.940 T 0.000 T 0.058 -1.798 0.009 5.73 1.101 3.483 11.396 -1.797937 NA 1 0.84093 0.799818 NA 0.797 NA 9.8596034 666 3 125648283 125648283 A G exonic ALG1L NA nonsynonymous SNV ALG1L:NM_001015050:exon6:c.T476C:p.I159T,ALG1L:NM_001195223:exon7:c.T536C:p.I179T exonic ENSG00000189366 NA nonsynonymous SNV ENSG00000189366:ENST00000340333:exon6:c.T476C:p.I159T NA NA 3q21.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=52 NA rs3811679 0.23 0.23 0.174 0.232228 0.171 0.1071 0.1513 0.4796 0.1472 0.17 0.1 0.18 0.5 0.1549 0.5 0.7 T 0.0 B 0.0 B 0.248 N 1.000 P -0.55 N -0.51 T -0.943 T 0.000 T 0.058 0.288 5.558 1.38 -0.062 -1.074 4.835 0.287738 NA 1 0.148515 0.35348 ID=COSM445491;OCCURENCE=1(breast) 0.029 NA 9.8589184 666 9 33385863 33385863 G T exonic AQP7 NA nonsynonymous SNV AQP7:NM_001170:exon7:c.C527A:p.A176E exonic ENSG00000165269 NA nonsynonymous SNV ENSG00000165269:ENST00000447660:exon3:c.C131A:p.A44E,ENSG00000165269:ENST00000379503:exon4:c.C335A:p.A112E,ENSG00000165269:ENST00000439678:exon4:c.C251A:p.A84E,ENSG00000165269:ENST00000379506:exon5:c.C524A:p.A175E,ENSG00000165269:ENST00000379507:exon5:c.C524A:p.A175E,ENSG00000165269:ENST00000541274:exon5:c.C132A:p.S44R,ENSG00000165269:ENST00000377425:exon6:c.C356A:p.A119E,ENSG00000165269:ENST00000537089:exon6:c.C251A:p.A84E,ENSG00000165269:ENST00000297988:exon7:c.C527A:p.A176E,ENSG00000165269:ENST00000539936:exon7:c.C527A:p.A176E Score=243;Name=lod=13 NA 9p13.3 NA NA NA NA rs62542746 NA NA 0.34 NA NA NA NA NA NA NA NA NA NA 0.4747 NA 0.08 T 0.002 B 0.023 B 0.011 N 1.000 P . . -1.97 D -1.063 T 0.021 T 0.752 0.971 8.961 1.57 0.051 2.102 7.453 0.970522 NA 0.05 NA NA NA NA NA 9.8586334 666 6 29911203 29911203 A C exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon3:c.A502C:p.K168Q,HLA-A:NM_002116:exon3:c.A502C:p.K168Q exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon3:c.A502C:p.K168Q,ENSG00000206503:ENST00000376806:exon3:c.A502C:p.K168Q,ENSG00000206503:ENST00000376809:exon3:c.A502C:p.K168Q,ENSG00000206503:ENST00000396634:exon5:c.A502C:p.K168Q Score=366;Name=lod=41 NA 6p22.1 NA Name=Pol2-4H8 Name=10 NA rs1059517 0.29 0.29 0.318 0.339058 0.2356 0.2143 0.2853 0.5673 0.3037 0.2 0.22 0.29 0.53 0.2399 0.53 1 T 0.004 B 0.005 B 0.561 N 1.000 P 0.285 N 5.65 T -1.002 T 0.001 T 0.286 -0.104 3.492 -1.26 -0.300 -0.840 13.840 -0.103622 NA 1 NA NA NA 0.159 NA 9.8578334 666 22 51011376 51011376 G C exonic CPT1B NA nonsynonymous SNV CPT1B:NM_001145134:exon10:c.C1178G:p.S393C,CPT1B:NM_001145137:exon10:c.C1280G:p.S427C,CPT1B:NM_001145135:exon11:c.C1280G:p.S427C,CPT1B:NM_004377:exon11:c.C1280G:p.S427C,CPT1B:NM_152245:exon11:c.C1280G:p.S427C,CPT1B:NM_152246:exon11:c.C1280G:p.S427C exonic ENSG00000205560 NA nonsynonymous SNV ENSG00000205560:ENST00000405237:exon10:c.C1280G:p.S427C,ENSG00000205560:ENST00000457250:exon10:c.C1178G:p.S393C,ENSG00000205560:ENST00000312108:exon11:c.C1280G:p.S427C,ENSG00000205560:ENST00000360719:exon11:c.C1280G:p.S427C,ENSG00000205560:ENST00000395650:exon11:c.C1280G:p.S427C,ENSG00000205560:ENST00000434492:exon13:c.C671G:p.S224C NA NA 22q13.33 NA NA NA NA rs8142477 0.36 0.36 0.361 0.422923 0.1143 0.501 0.2997 0.6679 0.4162 0.12 0.51 0.26 0.64 0.2447 0.64 0.21 T 0.0 B 0.005 B 0.362 N 1.000 P 0 N -2.56 D -1.035 T 0.000 T 0.059 -0.026 3.878 -5.54 -1.599 0.686 6.414 -0.026487 NA 0.13 0.116744 0.565365 NA 0.428 NA 9.8575894 666 22 45244930 45244930 C T exonic ARHGAP8,PRR5-ARHGAP8 NA synonymous SNV ARHGAP8:NM_001198726:exon10:c.C867T:p.L289L,ARHGAP8:NM_181335:exon10:c.C867T:p.L289L,ARHGAP8:NM_001017526:exon11:c.C960T:p.L320L,PRR5-ARHGAP8:NM_181334:exon13:c.C1233T:p.L411L exonic ENSG00000241484,ENSG00000248405 NA synonymous SNV ENSG00000241484:ENST00000336963:exon10:c.C867T:p.L289L,ENSG00000241484:ENST00000356099:exon10:c.C867T:p.L289L,ENSG00000241484:ENST00000389774:exon11:c.C960T:p.L320L,ENSG00000248405:ENST00000361473:exon13:c.C1260T:p.L420L,ENSG00000241484:ENST00000389773:exon13:c.C1233T:p.L411L,ENSG00000248405:ENST00000352766:exon15:c.C1497T:p.L499L,ENSG00000241484:ENST00000517296:exon15:c.C1497T:p.L499L NA NA 22q13.31 Score=864;Name=V$IK3_01 NA NA NA rs2269543 0.34 0.34 0.345 0.367212 0.2495 0.3105 0.2594 0.5915 0.32 0.24 0.33 0.28 0.53 0.2901 0.53 . . . . . . . . 0.000 P . . . . -1.009 T 0.000 T . -0.376 2.23 -7.64 -1.448 -2.997 9.513 -0.376321 NA NA 0.271047 0.533818 NA 0.37 NA 9.8560196 666 1 248224569 248224569 G T exonic OR2L3 NA nonsynonymous SNV OR2L3:NM_001004687:exon1:c.G586T:p.G196C exonic ENSG00000198128 NA nonsynonymous SNV ENSG00000198128:ENST00000359959:exon1:c.G586T:p.G196C NA NA 1q44 NA NA NA NA rs71535241 NA NA 0.321 NA NA NA NA NA NA NA NA NA NA 0.4776 0.022 0.16 T 0.004 B 0.009 B 0.425 N 1.000 P 0 N 8.74 T -1.016 T 0.000 T 0.149 -0.623 1.236 -2.94 -0.962 -2.916 0.431 -0.622604 NA 0.17 NA NA NA 0.014 NA 9.8557334 667 3 118621664 118621664 C A exonic IGSF11 NA nonsynonymous SNV IGSF11:NM_001015887:exon7:c.G999T:p.E333D,IGSF11:NM_152538:exon9:c.G996T:p.E332D exonic ENSG00000144847 NA nonsynonymous SNV ENSG00000144847:ENST00000393775:exon7:c.G999T:p.E333D,ENSG00000144847:ENST00000489689:exon7:c.G927T:p.E309D,ENSG00000144847:ENST00000491903:exon7:c.G915T:p.E305D,ENSG00000144847:ENST00000425327:exon8:c.G996T:p.E332D,ENSG00000144847:ENST00000354673:exon9:c.G996T:p.E332D,ENSG00000144847:ENST00000441144:exon9:c.G924T:p.E308D Score=361;Name=lod=39 NA 3q13.32 NA NA NA NA rs36052974 0.22 0.22 0.212 0.263379 0.1292 0.1319 0.317 0.3775 0.3446 0.12 0.15 0.3 0.4 0.1997 0.4 0.58 T 0.002 B 0.006 B 0.248 N 0.870 P 0.205 N -0.87 T -1.033 T 0.000 T 0.043 0.7 7.735 3.46 0.787 3.961 8.814 0.700035 NA 0.52 0.149651 0.365411 NA 0.239 NA 9.8547824 667 8 10467652 10467652 G C exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.C3956G:p.A1319G exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C3956G:p.A1319G NA NA 8p23.1 NA NA NA NA rs4840501 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4793 0.34 1 T 0.0 B 0.0 B 0.138 N 1.000 N . . 3.99 T -0.962 T 0.005 T 0.016 -0.752 0.812 -2.33 -1.592 -0.974 4.568 -0.751668 NA 1 NA NA NA 0.297 NA 9.8540334 667 8 144654249 144654249 G A exonic MROH6 NA nonsynonymous SNV MROH6:NM_001100878:exon2:c.C401T:p.T134I exonic ENSG00000204839 NA nonsynonymous SNV ENSG00000204839:ENST00000398882:exon2:c.C401T:p.T134I,ENSG00000204839:ENST00000529971:exon2:c.C401T:p.T134I NA NA 8q24.3 Score=875;Name=V$GR_Q6 Name=ZNF263 Name=10 NA rs10866911 0.38 0.38 0.327 0.320288 0.5229 0.3562 0.4135 0.1135 0.2883 0.53 0.32 0.49 0.13 0.4319 0.53 0.53 T 0.037 B 0.018 B . . 0.029 P 0.55 N 4.19 T -0.915 T 0.000 T 0.128 2.854 15.51 -1.38 -0.139 1.349 6.138 2.853888 2.853888 0.24 0.525018 0.171216 NA 0.254 NA 9.8535154 667 17 28296327 28296327 T G exonic EFCAB5 NA nonsynonymous SNV EFCAB5:NM_001145053:exon4:c.T541G:p.L181V,EFCAB5:NM_198529:exon4:c.T709G:p.L237V exonic ENSG00000176927 NA nonsynonymous SNV ENSG00000176927:ENST00000419434:exon1:c.T127G:p.L43V,ENSG00000176927:ENST00000320856:exon4:c.T709G:p.L237V,ENSG00000176927:ENST00000378738:exon4:c.T709G:p.L237V,ENSG00000176927:ENST00000394832:exon4:c.T709G:p.L237V,ENSG00000176927:ENST00000394835:exon4:c.T709G:p.L237V,ENSG00000176927:ENST00000440741:exon4:c.T709G:p.L237V,ENSG00000176927:ENST00000536908:exon4:c.T541G:p.L181V Score=399;Name=lod=56 NA 17q11.2 NA NA NA NA rs9897794 0.55 0.55 0.544 0.542332 0.4622 0.7133 0.5677 0.444 0.5634 0.47 0.72 0.55 0.47 0.5288 0.72 0.6 T 0.0 B 0.0 B 0.050 N 0.000 P -1.7 N 3.05 T -1.020 T 0.000 T 0.048 0.218 5.176 5.32 1.390 3.577 13.330 0.21808 NA 0.3 0.489341 0.424185 NA 0.659 NA 9.8529924 667 3 125648209 125648209 C T exonic ALG1L NA nonsynonymous SNV ALG1L:NM_001015050:exon6:c.G550A:p.G184S,ALG1L:NM_001195223:exon7:c.G610A:p.G204S exonic ENSG00000189366 NA nonsynonymous SNV ENSG00000189366:ENST00000340333:exon6:c.G550A:p.G184S NA NA 3q21.2 NA Name=CTCF_(SC-5916),Rad21,CTCF_(C-20),CTCF Name=52 NA rs3187686 0.22 0.22 0.242 0.231629 0.171 0.1071 0.1513 0.4773 0.1472 0.17 0.1 0.17 0.49 0.1558 0.49 0 D 0.007 B 0.001 B . . 1.000 P 0 N -0.57 T -0.960 T 0.000 T 0.034 2.677 14.91 0.603 0.206 0.241 3.862 2.676827 2.676827 0 0.154377 0.383772 NA 0.232 NA 9.8521564 667 18 56279025 56279025 T G exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon2:c.A5C:p.K2T exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon2:c.A5C:p.K2T Score=387;Name=lod=50 NA 18q21.32 NA Name=CtBP2,YY1_(C-20),SP1,TCF4,GR,ERalpha_a,NANOG_(SC-33759) Name=70 NA rs6566987 0.92 0.92 0.925 0.940695 0.8231 1 0.9078 0.9826 0.9673 0.82 1 0.91 0.97 0.8647 1 1 T 0.0 B 0.0 B . . 1.000 P -0.55 N 1.2 T -0.956 T 0.000 T 0.027 -0.864 0.516 3.9 0.361 1.184 6.293 -0.864298 NA 0 0.793814 0.949698 NA 0.833 NA 9.8517194 667 6 30039240 30039240 G T exonic RNF39 NA nonsynonymous SNV RNF39:NM_025236:exon4:c.C911A:p.A304E,RNF39:NM_170769:exon4:c.C911A:p.A304E exonic ENSG00000204618 NA nonsynonymous SNV ENSG00000204618:ENST00000244360:exon4:c.C911A:p.A304E,ENSG00000204618:ENST00000376751:exon4:c.C911A:p.A304E NA NA 6p22.1 NA Name=CTCF,NANOG_(SC-33759) Name=40 NA rs2301753 0.18 0.18 0.187 0.191294 0.0954 0.1905 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 0.2698 0.3 1 T 0.0 B 0.0 B 0.012 N 1.000 P -1.245 N 0.03 T -1.042 T 0.026 T 0.045 -0.576 1.41 4.54 0.706 0.703 9.819 -0.57564 NA 1 0.118094 0.250666 NA 0.145 NA 9.8500394 667 3 125648343 125648343 G A exonic ALG1L NA nonsynonymous SNV ALG1L:NM_001015050:exon6:c.C416T:p.S139L,ALG1L:NM_001195223:exon7:c.C476T:p.S159L exonic ENSG00000189366 NA nonsynonymous SNV ENSG00000189366:ENST00000340333:exon6:c.C416T:p.S139L NA NA 3q21.2 NA NA Name=52 NA rs3187711 0.23 0.23 0.229 0.233826 0.171 0.1071 0.1556 0.4834 0.1472 0.17 0.1 0.18 0.49 0.157 0.49 0.49 T 0.959 D 0.194 B 0.000 N 0.999 P 1.28 L -0.49 T -0.883 T 0.000 T 0.103 -0.343 2.375 1.4 0.305 2.799 7.096 -0.343481 NA 0.41 0.155926 0.393508 ID=COSM445492;OCCURENCE=1(breast) 0.239 NA 9.8494074 667 6 132172368 132172368 A C exonic ENPP1 NA nonsynonymous SNV ENPP1:NM_006208:exon4:c.A517C:p.K173Q exonic ENSG00000197594 NA nonsynonymous SNV ENSG00000197594:ENST00000360971:exon4:c.A517C:p.K173Q,ENSG00000197594:ENST00000513998:exon4:c.A517C:p.K173Q NA NA 6q23.2 NA NA NA NA rs1044498 0.29 0.29 0.307 0.342252 0.1332 0.0962 0.196 0.8835 0.183 0.12 0.11 0.16 0.87 0.2063 0.87 0.31 T 0.072 B 0.068 B 0.588 N 1.000 P 1.475 L 0.95 T -1.082 T 0.051 T 0.07 1.611 11.34 3.39 0.174 1.966 14.335 1.610895 1.610895 0.14 0.144767 0.751248 NA 0.333 CLINSIG=other|other|other;CLNDBN=Insulin_resistance\x2c_susceptibility_to|Diabetes_mellitus_type_2|Obesity;CLNREVSTAT=single|single|single;CLNACC=RCV000014558.1|RCV000014559.1|RCV000033192.1;CLNDSDB=MedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C1852091|C0011860:125853:44054006|C0028754:601665:ORPHA71529:414916001 9.8490664 667 11 99690428 99690428 T G exonic CNTN5 NA nonsynonymous SNV CNTN5:NM_001243270:exon3:c.T209G:p.L70R,CNTN5:NM_001243271:exon4:c.T209G:p.L70R,CNTN5:NM_014361:exon4:c.T209G:p.L70R exonic ENSG00000149972 NA nonsynonymous SNV ENSG00000149972:ENST00000279463:exon2:c.T209G:p.L70R,ENSG00000149972:ENST00000528682:exon3:c.T209G:p.L70R,ENSG00000149972:ENST00000524871:exon4:c.T209G:p.L70R,ENSG00000149972:ENST00000527185:exon4:c.T209G:p.L70R Score=343;Name=lod=33 NA 11q22.1 Score=918;Name=V$MZF1_02 NA NA NA rs7125822 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA 0.4849 0.076 0.46 T 0.0 B 0.0 B 0.154 N 0.000 P -0.55 N 0.54 T -1.035 T 0.054 T 0.404 -1.377 0.025 3.13 0.778 0.881 6.345 -1.377401 NA 1 NA NA NA 0.094 NA 9.8484334 668 21 39671476 39671476 G A exonic KCNJ15 NA nonsynonymous SNV KCNJ15:NM_001276438:exon3:c.G293A:p.G98D,KCNJ15:NM_170736:exon3:c.G293A:p.G98D,KCNJ15:NM_170737:exon3:c.G293A:p.G98D,KCNJ15:NM_001276437:exon4:c.G293A:p.G98D,KCNJ15:NM_001276439:exon4:c.G293A:p.G98D,KCNJ15:NM_002243:exon4:c.G293A:p.G98D,KCNJ15:NM_001276435:exon5:c.G293A:p.G98D,KCNJ15:NM_001276436:exon5:c.G293A:p.G98D exonic ENSG00000157551 NA nonsynonymous SNV ENSG00000157551:ENST00000419868:exon2:c.G293A:p.G98D,ENSG00000157551:ENST00000398927:exon3:c.G293A:p.G98D,ENSG00000157551:ENST00000398934:exon3:c.G293A:p.G98D,ENSG00000157551:ENST00000398938:exon3:c.G293A:p.G98D,ENSG00000157551:ENST00000438657:exon3:c.G293A:p.G98D,ENSG00000157551:ENST00000328656:exon4:c.G293A:p.G98D,ENSG00000157551:ENST00000398928:exon4:c.G293A:p.G98D,ENSG00000157551:ENST00000398930:exon4:c.G293A:p.G98D,ENSG00000157551:ENST00000398932:exon4:c.G293A:p.G98D NA NA 21q22.13 NA NA NA NA rs2230033 0.33 0.33 0.311 0.288738 0.497 0.253 0.4625 0.0363 0.3292 0.5 0.28 0.46 0.05 0.4459 0.55 . . 0.093 B 0.079 B 0.272 U 1.000 P -0.405 N -3.27 D -0.943 T 0.000 T 0.39 -1.729 0.011 4.22 1.249 1.174 2.999 -1.728508 NA 0.36 0.547326 0.120971 NA 0.319 NA 9.8431074 668 17 45468858 45468858 T G exonic EFCAB13 NA stopgain EFCAB13:NM_001195192:exon13:c.T1350G:p.Y450X,EFCAB13:NM_152347:exon15:c.T1638G:p.Y546X exonic ENSG00000178852 NA stopgain ENSG00000178852:ENST00000523842:exon3:c.T216G:p.Y72X,ENSG00000178852:ENST00000517484:exon13:c.T1350G:p.Y450X,ENSG00000178852:ENST00000331493:exon15:c.T1638G:p.Y546X NA NA 17q21.32 NA NA NA NA rs118004742 0.03 0.03 0.021 0.0231629 0.0547 NA 0.0634 0.0045 0.0112 0.04 NA 0.08 0.0041 0.0444 0.08 1 T . . . . 0.510 N 1.000 A . . . . . . . . . 2.01 12.68 2.06 0.539 0.671 5.459 2.009891 2.009891 0.1 0.059446 0.014753 ID=COSM328408;OCCURENCE=1(pancreas) 0.007 NA 9.841454 668 6 30893941 30893941 G A exonic VARS2 NA nonsynonymous SNV VARS2:NM_001167733:exon29:c.G2726A:p.R909Q,VARS2:NM_001167734:exon30:c.G3236A:p.R1079Q,VARS2:NM_020442:exon30:c.G3146A:p.R1049Q exonic ENSG00000137411 NA nonsynonymous SNV ENSG00000137411:ENST00000321897:exon29:c.G3146A:p.R1049Q,ENSG00000137411:ENST00000542001:exon29:c.G2726A:p.R909Q,ENSG00000137411:ENST00000416670:exon30:c.G3146A:p.R1049Q,ENSG00000137411:ENST00000541562:exon30:c.G3236A:p.R1079Q NA NA 6p21.33 NA NA NA NA rs4678 0.11 0.11 0.126 0.0904553 0.1551 0.0258 0.0663 0.0968 0.0992 0.17 0.03 0.07 0.14 0.1467 0.19 1 T 0.078 B 0.016 B 0.418 N 1.000 P 0.185 N 1.5 T -1.046 T 0.009 T 0.092 0.127 4.681 -8.54 -1.624 -1.020 8.556 0.126566 NA 1 0.193388 0.121523 NA 0.145 NA 9.8381454 668 11 99690286 99690286 T G exonic CNTN5 NA nonsynonymous SNV CNTN5:NM_001243270:exon3:c.T67G:p.S23A,CNTN5:NM_001243271:exon4:c.T67G:p.S23A,CNTN5:NM_014361:exon4:c.T67G:p.S23A exonic ENSG00000149972 NA nonsynonymous SNV ENSG00000149972:ENST00000279463:exon2:c.T67G:p.S23A,ENSG00000149972:ENST00000528682:exon3:c.T67G:p.S23A,ENSG00000149972:ENST00000524871:exon4:c.T67G:p.S23A,ENSG00000149972:ENST00000527185:exon4:c.T67G:p.S23A Score=481;Name=lod=120 NA 11q22.1 NA NA NA NA rs10790978 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA 0.4965 0.21 1 T 0.0 B 0.0 B 0.002 N 0.000 P -0.55 N 0.72 T -1.005 T 0.044 T 0.327 -1.707 0.011 4.28 0.875 3.780 10.378 -1.707129 NA 1 NA NA ID=COSM1476010,COSM430127;OCCURENCE=2(breast) 0.196 NA 9.8368334 668 19 37488499 37488499 T C exonic ZNF568 NA stoploss ZNF568:NM_001204839:exon9:c.T1714C:p.X572R,ZNF568:NM_001204838:exon10:c.T1906C:p.X636R exonic ENSG00000198453 NA stoploss ENSG00000198453:ENST00000455427:exon9:c.T1714C:p.X572R NA NA 19q13.12 NA NA NA NA rs1667366 0.47 0.47 0.438 0.496805 0.5119 0.25 0.5346 0.6006 0.5685 0.52 0.26 0.52 0.61 0.6526 0.61 . . . . . . . . 1.000 P . . . . . . . . . 1.748 11.81 2.66 0.957 -1.955 7.157 1.748479 1.748479 0.62 NA NA NA 0.493 NA 9.8355 669 7 123514896 123514896 G T exonic HYAL4 NA nonsynonymous SNV HYAL4:NM_012269:exon4:c.G1036T:p.A346S exonic ENSG00000106302 NA nonsynonymous SNV ENSG00000106302:ENST00000476325:exon3:c.G1036T:p.A346S,ENSG00000106302:ENST00000483878:exon3:c.G1036T:p.A346S,ENSG00000106302:ENST00000223026:exon4:c.G1036T:p.A346S NA NA 7q31.32 Score=845;Name=V$TST1_01 NA NA NA rs6949082 0.11 0.11 0.103 0.113618 0.1779 0.001 0.0994 0.1293 0.1524 0.18 0.0017 0.1 0.16 0.1508 0.18 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.075 N 2.05 T -0.988 T 0.000 T 0.028 -0.528 1.595 4.89 0.508 2.040 7.820 -0.528098 NA 0.87 0.170233 0.149796 NA 0.094 NA 9.8344004 669 18 56247600 56247600 C A exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon4:c.G408T:p.R136S exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon4:c.G408T:p.R136S NA NA 18q21.32 NA Name=SRF,USF-1 Name=47 NA rs9944810 0.48 0.48 0.458 0.482827 0.5 0.6022 0.4755 0.3306 0.5532 0.49 0.62 0.49 0.28 0.5001 0.62 0.5 T 0.0 B 0.0 B . . 1.000 P -0.345 N 1.1 T -0.943 T 0.000 T 0.031 -0.705 0.956 -6.19 -1.702 -0.613 3.377 -0.704751 NA 0 0.499052 0.349716 NA 0.377 NA 9.8341814 669 7 142460369 142460369 G A exonic PRSS1 NA nonsynonymous SNV PRSS1:NM_002769:exon4:c.G542A:p.S181N exonic ENSG00000204983 NA nonsynonymous SNV ENSG00000204983:ENST00000492062:exon3:c.G392A:p.S131N,ENSG00000204983:ENST00000311737:exon4:c.G542A:p.S181N,ENSG00000204983:ENST00000486171:exon5:c.G584A:p.S195N NA NA 7q34 NA NA NA NA rs201719096 NA NA 0.318 NA NA NA NA NA NA NA NA NA NA 0.4997 NA 0.77 T 0.0 B 0.001 B 0.594 N 1.000 N 0.345 N -1.52 D -0.550 T 0.492 T 0.112 -2.362 0.004 -2.6 -0.627 -1.044 9.758 -2.362164 NA 1 NA NA NA NA NA 9.8336334 669 9 33387047 33387047 T G exonic AQP7 NA nonsynonymous SNV AQP7:NM_001170:exon4:c.A188C:p.K63T exonic ENSG00000165269 NA nonsynonymous SNV ENSG00000165269:ENST00000379506:exon2:c.A185C:p.K62T,ENSG00000165269:ENST00000379507:exon2:c.A185C:p.K62T,ENSG00000165269:ENST00000377425:exon3:c.A17C:p.K6T,ENSG00000165269:ENST00000297988:exon4:c.A188C:p.K63T,ENSG00000165269:ENST00000539936:exon4:c.A188C:p.K63T NA NA 9p13.3 NA NA NA NA rs4008658 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA 0.4998 NA 1 T 0.0 B 0.005 B 0.308 N 1.000 P . . 2.87 T -0.707 T 0.242 T 0.155 -2.141 0.005 -4.79 -1.171 -1.519 4.817 -2.14074 NA 0.32 NA NA NA NA NA 9.8335334 669 9 118162670 118162670 C A exonic DEC1 NA nonsynonymous SNV DEC1:NM_017418:exon6:c.C46A:p.P16T exonic ENSG00000173077 NA nonsynonymous SNV ENSG00000173077:ENST00000374016:exon6:c.C46A:p.P16T NA NA 9q33.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008293 NA 0 D 0.722 P 0.156 B . . 1.000 N . . 0.19 T -1.023 T 0.112 T 0.124 0.032 4.178 -1.37 -0.540 -0.199 6.563 0.031525 NA NA NA NA ID=COSM202034;OCCURENCE=1(large_intestine) NA NA 9.8333251 669 6 90368431 90368431 T A exonic MDN1 NA nonsynonymous SNV MDN1:NM_014611:exon89:c.A14919T:p.E4973D exonic ENSG00000112159 NA nonsynonymous SNV ENSG00000112159:ENST00000369393:exon89:c.A14919T:p.E4973D,ENSG00000112159:ENST00000428876:exon89:c.A14919T:p.E4973D Score=272;Name=lod=17 NA 6q15 NA NA NA NA rs139030773 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004942 0.0005 0.36 T 0.759 P 0.202 B 0.000 D 0.668 N 1.1 L 3.8 T -0.820 T 0.004 T 0.196 1.953 12.49 1.02 0.361 0.103 7.265 1.952733 1.952733 0.06 0.000116 0.000454 NA NA NA 9.833168 669 1 1650832 1650832 A G exonic CDK11A,CDK11B NA nonsynonymous SNV CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11B:NM_033492:exon4:c.T290C:p.V97A,CDK11B:NM_033493:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_033488:exon5:c.T188C:p.V63A,CDK11B:NM_033489:exon5:c.T188C:p.V63A exonic ENSG00000008128 NA nonsynonymous SNV ENSG00000008128:ENST00000356200:exon3:c.T188C:p.V63A,ENSG00000008128:ENST00000509982:exon3:c.T290C:p.V97A,ENSG00000008128:ENST00000357760:exon4:c.T290C:p.V97A,ENSG00000008128:ENST00000358779:exon4:c.T290C:p.V97A,ENSG00000008128:ENST00000378633:exon4:c.T290C:p.V97A,ENSG00000008128:ENST00000378635:exon4:c.T290C:p.V97A,ENSG00000008128:ENST00000378638:exon4:c.T188C:p.V63A,ENSG00000008128:ENST00000404249:exon4:c.T290C:p.V97A,ENSG00000008128:ENST00000460465:exon4:c.T290C:p.V97A,ENSG00000008128:ENST00000479362:exon4:c.T290C:p.V97A Score=624;Name=lod=456 NA 1p36.33 NA NA NA NA rs72909030 0.5 0.5 0.48 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5011 0.5 0.96 T 0.033 B 0.018 B 0.107 N 1.000 P -0.695 N 3.64 T -0.923 T 0.000 T 0.175 0.676 7.618 4.12 0.513 5.802 9.081 0.67616 NA 0.66 NA NA NA 0.094 NA 9.8322334 669 10 46998894 46998894 G A exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G14A:p.R5H exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.G14A:p.R5H,ENSG00000204175:ENST00000374317:exon3:c.G14A:p.R5H NA NA 10q11.22 Score=778;Name=V$STAT5A_02 NA NA NA rs3127817 0.51 0.51 NA NA NA NA NA NA NA 0.51 0.5 0.51 0.51 0.5019 0.51 0.42 T 0.004 B 0.002 B 0.835 N 1.000 N 0.51 N 4.04 T -0.917 T 0.000 T 0.062 0.204 5.102 -10.4 -1.831 -1.881 5.079 0.20445 NA 1 NA NA ID=COSM427578;OCCURENCE=1(breast) 0.5 NA 9.8314334 669 1 161018422 161018422 C G exonic ARHGAP30 NA nonsynonymous SNV ARHGAP30:NM_001025598:exon12:c.G2389C:p.D797H exonic ENSG00000186517 NA nonsynonymous SNV ENSG00000186517:ENST00000368015:exon8:c.G1858C:p.D620H,ENSG00000186517:ENST00000368013:exon12:c.G2389C:p.D797H NA NA 1q23.3 NA NA NA NA rs61733353 0.0032 0.0032 0.001 0.0081869 NA NA 0.0029 0.0295 NA NA NA 0.01 0.01 0.0024 0.019 0.03 D 0.553 P 0.343 B 0.438 N 1.000 N 2.015 M 3.01 T -1.021 T 0.037 T 0.089 0.369 6.003 0.756 0.282 -0.310 4.019 0.369047 NA 0.03 0.000116 0.018838 NA 0.007 NA 9.8308174 669 1 152382120 152382120 C T exonic CRNN NA nonsynonymous SNV CRNN:NM_016190:exon3:c.G1438A:p.G480S exonic ENSG00000143536 NA nonsynonymous SNV ENSG00000143536:ENST00000271835:exon3:c.G1438A:p.G480S NA NA 1q21.3 NA NA NA NA rs3829868 0.23 0.23 0.208 0.246805 0.1441 0.4315 0.3689 0.0635 0.3231 0.15 0.45 0.3 0.06 0.2071 0.45 0.03 D 0.18 B 0.079 B 0.078 N 1.000 P 1.115 L 3.01 T -1.028 T 0.011 T 0.072 2.037 12.77 4.01 1.289 -0.082 8.987 2.037003 2.037003 0.37 0.151977 0.082388 NA 0.203 NA 9.8301564 669 20 24994289 24994289 C T exonic ACSS1 NA nonsynonymous SNV ACSS1:NM_001252676:exon9:c.G1099A:p.V367M,ACSS1:NM_001252675:exon10:c.G1456A:p.V486M,ACSS1:NM_001252677:exon10:c.G1462A:p.V488M,ACSS1:NM_032501:exon10:c.G1462A:p.V488M exonic ENSG00000154930 NA nonsynonymous SNV ENSG00000154930:ENST00000537502:exon8:c.G1213A:p.V405M,ENSG00000154930:ENST00000542618:exon9:c.G1099A:p.V367M,ENSG00000154930:ENST00000323482:exon10:c.G1462A:p.V488M,ENSG00000154930:ENST00000432802:exon10:c.G1462A:p.V488M NA NA 20p11.21 NA NA NA NA rs6050249 0.18 0.18 0.179 0.163938 0.167 0.0595 0.1513 0.3064 0.0849 0.15 0.07 0.2 0.34 0.1553 0.34 0.03 D 0.19 B 0.082 B 0.842 N 0.000 P 1.64 L 0.43 T -1.038 T 0.000 T 0.087 2.032 12.75 -10.6 -1.951 -2.494 2.233 2.03194 2.03194 0.04 0.181628 0.312755 ID=COSM443564;OCCURENCE=1(breast),1(large_intestine) 0.13 NA 9.8294054 669 7 89861832 89861832 G A exonic STEAP2 NA nonsynonymous SNV STEAP2:NM_152999:exon5:c.G1367A:p.R456Q,STEAP2:NM_001040665:exon6:c.G1367A:p.R456Q,STEAP2:NM_001244944:exon6:c.G1367A:p.R456Q exonic ENSG00000157214 NA nonsynonymous SNV ENSG00000157214:ENST00000287908:exon5:c.G1367A:p.R456Q,ENSG00000157214:ENST00000394621:exon6:c.G1367A:p.R456Q,ENSG00000157214:ENST00000394622:exon6:c.G1367A:p.R456Q Score=557;Name=lod=244 NA 7q21.13 NA Name=p300 NA NA rs194524 0.36 0.36 0.324 0.329872 0.5119 0.1825 0.3862 0.2685 0.3374 0.52 0.19 0.4 0.29 0.466 0.53 0.1 T 0.003 B 0.006 B 0.001 N 0.000 P 2.14 M 3.47 T -0.973 T 0.000 T 0.116 3.026 16.1 1.91 0.080 1.918 8.865 3.02615 3.02615 0.12 0.528262 0.325465 NA 0.42 NA 9.8271714 669 1 3329051 3329051 G A exonic PRDM16 NA nonsynonymous SNV PRDM16:NM_022114:exon9:c.G2290A:p.V764M,PRDM16:NM_199454:exon9:c.G2290A:p.V764M exonic ENSG00000142611 NA nonsynonymous SNV ENSG00000142611:ENST00000509860:exon5:c.G1717A:p.V573M,ENSG00000142611:ENST00000270722:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000378391:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000441472:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000442529:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000511072:exon9:c.G2293A:p.V765M,ENSG00000142611:ENST00000514189:exon9:c.G2293A:p.V765M,ENSG00000142611:ENST00000378398:exon10:c.G2293A:p.V765M Score=582;Name=lod=308 NA 1p36.32 NA NA NA NA rs149333409 0.0023 0.0023 0.002 0.000798722 0.003 NA 0.0014 NA NA 0.01 NA NA NA 0.0012 0.01 0.07 T 0.8 P 0.259 B 0.071 U 0.920 N 1.87 L 3.45 T -1.031 T 0.012 T 0.131 0.201 5.084 1.68 0.241 1.877 5.922 0.201188 NA 0.02 0.002402 0 NA NA NA 9.8267314 669 16 1544302 1544302 A G exonic TELO2 NA nonsynonymous SNV TELO2:NM_016111:exon2:c.A20G:p.E7G exonic ENSG00000100726 NA nonsynonymous SNV ENSG00000100726:ENST00000262319:exon2:c.A20G:p.E7G,ENSG00000100726:ENST00000497339:exon2:c.A20G:p.E7G NA NA 16p13.3 NA Name=ZNF263 NA NA rs2667661 0.26 0.26 0.087 0.28774 0.2416 0.5119 0.196 0.2345 0.2413 0.21 0.48 0.17 0.17 0.2521 0.48 0.39 T 0.0 B 0.0 B 0.741 N 1.000 P 0.345 N 2.42 T -0.904 T 0.000 T 0.023 1.279 10.18 -7.1 -1.371 -0.276 3.174 1.2787 1.2787 0.43 0.01314 0.015007 NA NA NA 9.8264934 669 1 26596080 26596080 G A exonic CEP85 NA nonsynonymous SNV CEP85:NM_022778:exon9:c.G1624A:p.A542T exonic ENSG00000130695 NA nonsynonymous SNV ENSG00000130695:ENST00000451429:exon8:c.G1471A:p.A491T,ENSG00000130695:ENST00000252992:exon9:c.G1624A:p.A542T,ENSG00000130695:ENST00000476272:exon9:c.G1624A:p.A542T Score=490;Name=lod=131 NA 1p36.11 NA NA NA NA rs7550997 0.13 0.13 0.106 0.129393 0.1889 0.0228 0.1052 0.2027 0.0961 0.2 0.02 0.11 0.16 0.1515 0.2 0.31 T 0.001 B 0.002 B 0.098 N 0.998 P 1.1 L 2.82 T -0.976 T 0.000 T 0.155 0.96 8.915 3.11 1.365 0.154 5.216 0.959619 NA 0.4 0.166512 0.159101 NA 0.094 NA 9.8264214 670 2 241463453 241463453 C A exonic ANKMY1 NA nonsynonymous SNV ANKMY1:NM_017844:exon6:c.G991T:p.V331L,ANKMY1:NM_016552:exon7:c.G1414T:p.V472L exonic ENSG00000144504 NA nonsynonymous SNV ENSG00000144504:ENST00000405002:exon5:c.G724T:p.V242L,ENSG00000144504:ENST00000536462:exon5:c.G850T:p.V284L,ENSG00000144504:ENST00000361678:exon6:c.G991T:p.V331L,ENSG00000144504:ENST00000373318:exon6:c.G991T:p.V331L,ENSG00000144504:ENST00000373320:exon6:c.G724T:p.V242L,ENSG00000144504:ENST00000403283:exon6:c.G1228T:p.V410L,ENSG00000144504:ENST00000405523:exon6:c.G991T:p.V331L,ENSG00000144504:ENST00000272972:exon7:c.G1414T:p.V472L,ENSG00000144504:ENST00000391987:exon8:c.G1414T:p.V472L,ENSG00000144504:ENST00000401804:exon8:c.G1681T:p.V561L NA NA 2q37.3 NA NA NA NA rs3821348 0.15 0.15 0.145 0.163339 0.1769 0.0992 0.1412 0.1089 0.3047 0.2 0.11 0.15 0.13 0.1727 0.2 0.31 T 0.002 B 0.002 B 0.000 N 1.000 P 0.55 N 4.48 T -1.105 T 0.000 T 0.119 -0.806 0.659 -8.12 -2.329 -2.542 11.640 -0.806463 NA 0.36 0.158953 0.115524 NA 0.123 NA 9.8247804 670 19 58213773 58213773 G C exonic ZNF154 NA nonsynonymous SNV ZNF154:NM_001085384:exon3:c.C544G:p.L182V exonic ENSG00000179909 NA nonsynonymous SNV ENSG00000179909:ENST00000426889:exon3:c.C544G:p.L182V,ENSG00000179909:ENST00000451275:exon3:c.C544G:p.L182V,ENSG00000179909:ENST00000512439:exon3:c.C544G:p.L182V NA NA 19q13.43 NA NA NA NA rs2188736 0.15 0.15 0.154 0.124201 0.1948 0.0843 0.111 0.1589 0.0552 0.19 0.09 0.14 0.16 0.149 0.19 0.28 T 0.0 B 0.0 B . . 1.000 P 0.015 N 3.21 T -0.914 T 0.000 T 0.024 2.178 13.24 -3.59 -1.235 -1.922 6.679 2.178466 2.178466 1 0.165385 0.148897 NA 0.13 NA 9.8241484 670 1 67279835 67279835 G A exonic WDR78 NA nonsynonymous SNV WDR78:NM_024763:exon17:c.C2525T:p.S842F exonic ENSG00000152763 NA nonsynonymous SNV ENSG00000152763:ENST00000464352:exon12:c.C1724T:p.S575F,ENSG00000152763:ENST00000431318:exon16:c.C1664T:p.S555F,ENSG00000152763:ENST00000371026:exon17:c.C2525T:p.S842F NA NA 1p31.3 NA NA NA NA rs148734945 0.0027 0.0027 NA 0.000998403 0.004 NA 0.0014 NA NA 0.0026 0.0017 0.01 NA 0.0019 0.01 0.03 D 0.498 P 0.153 B 0.335 N 1.000 N 0.345 N 0.35 T -0.993 T 0.073 T 0.24 0.622 7.347 1.77 0.293 1.177 8.201 0.622068 NA 0.01 0.003505 0.000454 NA 0.007 NA 9.8239284 670 7 143632833 143632833 A G exonic OR2F2 NA nonsynonymous SNV OR2F2:NM_001004685:exon1:c.A508G:p.T170A exonic ENSG00000221910 NA nonsynonymous SNV ENSG00000221910:ENST00000408955:exon1:c.A508G:p.T170A NA NA 7q35 Score=883;Name=V$AREB6_03 NA NA NA rs13229174 0.11 0.11 0.108 0.102037 0.167 0.001 0.1239 0.1596 0.046 0.16 NA 0.14 0.16 0.1458 0.2 0.01 D 0.001 B 0.009 B 0.291 N 1.000 P -0.59 N 1.22 T -1.022 T 0.000 T 0.047 0.367 5.995 2.28 0.494 0.187 2.966 0.367465 NA 0.06 0.19814 0.164548 NA 0.159 NA 9.8223934 670 2 131688783 131688783 G A exonic ARHGEF4 NA nonsynonymous SNV ARHGEF4:NM_015320:exon3:c.G253A:p.V85I,ARHGEF4:NM_032995:exon3:c.G253A:p.V85I exonic ENSG00000136002 NA nonsynonymous SNV ENSG00000136002:ENST00000409303:exon1:c.G253A:p.V85I,ENSG00000136002:ENST00000428230:exon2:c.G253A:p.V85I,ENSG00000136002:ENST00000438985:exon2:c.G793A:p.V265I,ENSG00000136002:ENST00000525839:exon2:c.G253A:p.V85I,ENSG00000136002:ENST00000326016:exon3:c.G253A:p.V85I,ENSG00000136002:ENST00000392953:exon3:c.G253A:p.V85I,ENSG00000136002:ENST00000409359:exon3:c.G2821A:p.V941I NA NA 2q21.1 NA NA NA NA rs61750360 0.12 0.12 0.121 0.139776 0.175 0.1319 0.0951 0.0378 0.2812 0.19 0.1 0.11 0.03 0.1643 0.19 0.22 T 0.213 B 0.016 B . . 1.000 P 0.805 L 0.96 T -1.084 T 0.000 T 0.047 2.038 12.77 -6.62 -1.009 -1.771 0.049 2.037539 2.037539 0.11 0.172326 0.05901 NA 0.116 NA 9.8217074 670 14 68042574 68042574 A G exonic PLEKHH1 NA nonsynonymous SNV PLEKHH1:NM_020715:exon16:c.A2204G:p.H735R exonic ENSG00000054690 NA nonsynonymous SNV ENSG00000054690:ENST00000329153:exon16:c.A2204G:p.H735R NA NA 14q24.1 NA Name=CTCF Name=18 NA rs11158685 0.47 0.47 0.419 0.478634 0.496 0.4603 0.5648 0.3903 0.5378 0.5 0.47 0.55 0.36 0.5193 0.55 1 T 0.0 B 0.0 B 0.318 N 1.000 P -1.575 N 2.02 T -0.921 T 0.000 T 0.009 -1.665 0.012 -2.53 -0.977 -0.176 15.213 -1.664876 NA 1 0.497616 0.374635 NA 0.529 NA 9.8204174 670 1 152192555 152192555 T C exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1550G:p.Y517C exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.A1550G:p.Y517C NA NA 1q21.3 NA NA NA NA rs41266134 0.27 0.27 0.219 0.292332 0.1412 0.5962 0.3905 0.0242 0.4274 0.15 0.59 0.33 0.03 0.2286 0.59 0.18 T 0.003 B 0.001 B . . 1.000 P 0.345 N 4.67 T -0.915 T 0.001 T 0.082 -0.243 2.829 -6.02 -1.875 -6.023 0.352 -0.243134 NA 0.17 0.144302 0.046754 NA 0.159 NA 9.8192314 670 1 152283283 152283283 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G4079A:p.R1360H exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G4079A:p.R1360H NA NA 1q21.3 NA NA NA NA rs11586631 0.23 0.23 0.168 0.28774 0.1421 0.5823 0.389 0.0144 0.4315 0.12 0.52 0.29 0.01 0.2289 0.52 0.55 T 0.406 B 0.051 B . . 1.000 P 0.895 L 4.85 T -0.896 T 0.001 T 0.032 1.641 11.44 -7.56 -1.837 -6.306 1.394 1.640902 1.640902 0.24 0.143904 0.036995 NA 0.167 NA 9.8184294 670 14 93199080 93199080 C T exonic LGMN NA nonsynonymous SNV LGMN:NM_005606:exon2:c.G52A:p.V18I,LGMN:NM_001008530:exon3:c.G52A:p.V18I exonic ENSG00000100600 NA nonsynonymous SNV ENSG00000100600:ENST00000334869:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000553802:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000554189:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000555699:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000556097:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000557434:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000557609:exon2:c.G52A:p.V18I,ENSG00000100600:ENST00000393218:exon3:c.G52A:p.V18I,ENSG00000100600:ENST00000553371:exon3:c.G52A:p.V18I,ENSG00000100600:ENST00000553918:exon3:c.G52A:p.V18I,ENSG00000100600:ENST00000554397:exon3:c.G52A:p.V18I,ENSG00000100600:ENST00000554919:exon3:c.G52A:p.V18I,ENSG00000100600:ENST00000554080:exon4:c.G52A:p.V18I NA NA 14q32.12 NA NA NA NA rs2236264 0.19 0.19 0.176 0.233826 0.1571 0.2371 0.2118 0.326 0.2004 0.14 0.19 0.2 0.26 0.1934 0.3 0.5 T 0.005 B 0.001 B 0.085 N 1.000 P 1.43 L 0.93 T -1.086 T 0.000 T 0.316 1.498 10.96 -9.35 -2.287 -2.629 2.485 1.498046 1.498046 0.18 0.164884 0.295733 NA 0.21 NA 9.8179494 670 17 39578424 39578424 G T exonic KRT37 NA nonsynonymous SNV KRT37:NM_003770:exon5:c.C917A:p.A306D exonic ENSG00000108417 NA nonsynonymous SNV ENSG00000108417:ENST00000225550:exon5:c.C917A:p.A306D Score=272;Name=lod=17 NA 17q21.2 NA NA NA NA rs2071607 0.17 0.17 0.141 0.172524 0.1759 0.3224 0.1268 0.0348 0.2331 0.18 0.31 0.13 0.04 0.1636 0.31 0.06 T 0.007 B 0.015 B 0.219 N 1.000 P 1.935 M -2.66 D -1.044 T 0.000 T 0.122 2.177 13.24 -1.33 0.077 0.732 3.523 2.177273 2.177273 0.1 0.176744 0.055606 NA 0.101 NA 9.8170894 670 8 144940230 144940230 G C exonic EPPK1 NA nonsynonymous SNV EPPK1:NM_031308:exon1:c.C7192G:p.L2398V exonic ENSG00000227184 NA nonsynonymous SNV ENSG00000227184:ENST00000525985:exon2:c.C7192G:p.L2398V NA NA 8q24.3 NA NA NA NA rs7005697 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5168 0.27 0.34 T 0.0 B 0.001 B . . 1.000 N . . -0.34 T -0.993 T 0.144 T 0.095 -0.602 1.31 -8.45 -3.371 -2.023 11.446 -0.602381 NA 0.15 NA NA NA 0.275 NA 9.8165334 670 9 86258685 86258685 A C exonic IDNK NA nonsynonymous SNV IDNK:NM_001001551:exon5:c.A554C:p.K185T,IDNK:NM_001256915:exon5:c.A416C:p.K139T exonic ENSG00000148057 NA nonsynonymous SNV ENSG00000148057:ENST00000376419:exon5:c.A554C:p.K185T,ENSG00000148057:ENST00000454393:exon5:c.A683C:p.K228T,ENSG00000148057:ENST00000277124:exon6:c.A416C:p.K139T NA NA 9q21.32 NA NA NA NA rs1052690 0.1 0.1 0.076 0.0972444 0.1889 0.0337 0.1254 0.0189 0.1544 0.17 0.02 0.16 0.02 0.1428 0.19 0.09 T 0.072 B 0.142 B 0.453 N 1.000 P 0.725 N 1.58 T -1.042 T 0.000 T 0.065 2.754 15.17 3.99 1.954 2.782 6.238 2.753549 2.753549 0.01 0.185625 0.041401 NA 0.225 NA 9.8160084 671 11 5602615 5602615 A G exonic OR52B6 NA nonsynonymous SNV OR52B6:NM_001005162:exon1:c.A509G:p.H170R exonic ENSG00000187747 NA nonsynonymous SNV ENSG00000187747:ENST00000345043:exon1:c.A509G:p.H170R NA NA 11p15.4 NA Name=CEBPB NA NA rs2341434 0.69 0.69 0.695 0.716653 0.4761 0.9802 0.67 0.7413 0.6922 0.47 0.97 0.63 0.72 0.5746 0.97 1 T 0.0 B 0.0 B 0.024 N 0.354 P -3.525 N 1.26 T -0.957 T 0.000 T 0.055 -2.09 0.006 5.15 1.413 1.843 9.936 -2.090174 NA 1 0.467877 0.696274 NA 0.616 NA 9.8147564 671 1 228486404 228486404 C T exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001271223:exon49:c.C13196T:p.T4399M exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000366707:exon44:c.C3266T:p.T1089M,ENSG00000154358:ENST00000570156:exon49:c.C13196T:p.T4399M NA NA 1q42.13 NA NA NA NA rs56021350 0.17 0.17 0.159 0.165935 0.1581 0.1518 0.2378 0.1982 0.0941 0.16 0.15 0.23 0.17 0.1835 0.23 0.23 T . . . . . . 1.000 P . . -0.36 T -1.017 T 0.000 T 0.271 0.912 8.711 -4.67 -1.387 -2.459 12.656 0.911956 NA 0.12 0.178805 0.229452 ID=COSM425517,COSM1473524,COSM425518;OCCURENCE=1(breast) 0.167 NA 9.8129284 671 5 135392426 135392426 T C exonic TGFBI NA synonymous SNV TGFBI:NM_000358:exon12:c.T1620C:p.F540F exonic ENSG00000120708 NA synonymous SNV ENSG00000120708:ENST00000305126:exon12:c.T1620C:p.F540F,ENSG00000120708:ENST00000442011:exon12:c.T1620C:p.F540F Score=426;Name=lod=72 NA 5q31.1 Score=771;Name=V$E2F_01 NA NA NA rs4669 0.39 0.39 0.398 0.420527 0.2584 0.3433 0.3703 0.6687 0.3671 0.27 0.34 0.35 0.67 0.3312 0.67 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . 1.138 9.636 -2.69 -1.131 -0.359 14.514 1.137809 NA NA 0.270183 0.598273 NA 0.377 NA 9.8068836 671 7 47913579 47913579 T C exonic PKD1L1 NA nonsynonymous SNV PKD1L1:NM_138295:exon24:c.A3814G:p.K1272E exonic ENSG00000158683 NA nonsynonymous SNV ENSG00000158683:ENST00000289672:exon24:c.A3814G:p.K1272E NA NA 7p12.3 Score=867;Name=V$TAL1ALPHAE47_01 NA Name=67 NA rs1470859 0.89 0.89 0.907 0.91853 0.83 0.9742 0.9121 0.9849 0.8671 0.79 0.98 0.86 0.93 0.8688 0.98 0.3 T 0.0 B 0.0 B 0.007 N 1.000 P 0.205 N -0.56 T -0.973 T 0.000 T 0.034 -2.071 0.006 -9.08 -1.865 -1.957 4.848 -2.070591 NA 0.59 0.827791 0.959374 NA 0.609 NA 9.8067424 672 15 50782703 50782703 A G exonic USP8 NA nonsynonymous SNV USP8:NM_001128610:exon14:c.A2215G:p.T739A,USP8:NM_005154:exon14:c.A2215G:p.T739A,USP8:NM_001128611:exon15:c.A2215G:p.T739A exonic ENSG00000138592 NA nonsynonymous SNV ENSG00000138592:ENST00000425032:exon11:c.A1897G:p.T633A,ENSG00000138592:ENST00000307179:exon14:c.A2215G:p.T739A,ENSG00000138592:ENST00000396444:exon14:c.A2215G:p.T739A,ENSG00000138592:ENST00000433963:exon15:c.A2215G:p.T739A NA NA 15q21.2 NA NA NA NA rs11638390 0.11 0.11 0.089 0.115415 0.1789 0.002 0.2406 0.0265 0.1984 0.17 NA 0.24 0.04 0.1675 0.24 0.51 T 0.0 B 0.001 B 0.819 N 1.000 P -0.205 N 4.38 T -0.911 T 0.000 T 0.021 -1.119 0.126 -6.61 -1.515 -1.084 8.103 -1.118975 NA 0.43 0.18293 0.050319 NA 0.13 NA 9.8040034 672 1 184764740 184764740 C T exonic FAM129A NA nonsynonymous SNV FAM129A:NM_052966:exon14:c.G2158A:p.V720M exonic ENSG00000135842 NA nonsynonymous SNV ENSG00000135842:ENST00000367511:exon14:c.G2158A:p.V720M NA NA 1q25.3 NA NA NA NA rs17313374 0.0046 0.0046 0.003 0.00339457 0.0099 NA 0.0058 NA 0.0031 0.01 NA 0.01 NA 0.007 0.013 0.11 T 0.593 P 0.038 B 0.339 N 1.000 N 0.695 N 2.39 T -1.060 T 0.014 T 0.018 2.877 15.59 -3.8 -0.611 -1.543 12.110 2.877144 2.877144 0.02 0.013023 0.001135 NA NA NA 9.8034104 672 17 8216468 8216468 T C exonic ARHGEF15 NA nonsynonymous SNV ARHGEF15:NM_025014:exon3:c.T830C:p.L277P,ARHGEF15:NM_173728:exon3:c.T830C:p.L277P exonic ENSG00000198844 NA nonsynonymous SNV ENSG00000198844:ENST00000581809:exon1:c.T110C:p.L37P,ENSG00000198844:ENST00000421050:exon2:c.T830C:p.L277P,ENSG00000198844:ENST00000361926:exon3:c.T830C:p.L277P Score=385;Name=lod=49 NA 17p13.1 NA NA NA NA rs871841 0.62 0.62 0.64 0.621006 0.4761 0.7431 0.6758 0.7186 0.4734 0.47 0.74 0.62 0.73 0.5541 0.74 1 T 0.0 B 0.0 B 0.000 N 0.529 P -0.895 N 1.36 T -0.965 T 0.000 T 0.101 0.583 7.148 5.13 1.409 1.477 9.673 0.583117 NA 0.52 0.500116 0.687018 NA 0.522 NA 9.8030174 672 2 233834975 233834975 A G exonic NGEF NA nonsynonymous SNV NGEF:NM_019850:exon3:c.T332C:p.M111T exonic ENSG00000066248 NA nonsynonymous SNV ENSG00000066248:ENST00000264051:exon3:c.T332C:p.M111T NA NA 2q37.1 NA Name=ERalpha_a Name=13 NA rs4973588 0.88 0.88 0.851 0.842452 0.8459 0.8433 0.8963 0.9312 0.68 0.85 0.85 0.9 0.93 0.8427 0.93 0.61 T 0.0 B 0.0 B 0.003 N 1.000 P 0.55 N -0.19 T -1.022 T 0.000 T 0.242 -2.385 0.004 -7.42 -2.223 -1.327 5.422 -2.38465 NA 0.23 0.845581 0.916478 NA 0.862 NA 9.7991524 672 11 56468212 56468212 G A exonic OR9G1,OR9G9 NA nonsynonymous SNV OR9G1:NM_001005213:exon1:c.G349A:p.V117M,OR9G9:NM_001013358:exon1:c.G349A:p.V117M exonic ENSG00000174914 NA nonsynonymous SNV ENSG00000174914:ENST00000312153:exon1:c.G349A:p.V117M Score=472;Name=lod=110 NA 11q12.1 NA NA NA NA rs591369 NA NA 0.349 0.0119808 0.0328 0.001 0.0216 0.0015 0.0092 NA NA NA NA 0.5017 0.42 1 T 0.0 B 0.0 B 0.000 N 1.000 N -3.75 N 5.7 T -0.942 T 0.000 T 0.248 -1.106 0.138 4.54 0.860 5.268 10.193 -1.105975 NA 1 NA NA NA 0.449 NA 9.7988334 672 1 232564297 232564297 T A exonic SIPA1L2 NA nonsynonymous SNV SIPA1L2:NM_020808:exon15:c.A4270T:p.M1424L exonic ENSG00000116991 NA nonsynonymous SNV ENSG00000116991:ENST00000308942:exon9:c.A1492T:p.M498L,ENSG00000116991:ENST00000262861:exon15:c.A4270T:p.M1424L,ENSG00000116991:ENST00000366630:exon16:c.A4270T:p.M1424L Score=295;Name=lod=21 NA 1q42.2 NA NA Name=2 NA rs3210731 0.1 0.1 0.099 0.0938498 0.1909 0.003 0.1801 0.0371 0.1033 0.18 NA 0.18 0.04 0.1534 0.19 0.36 T 0.0 B 0.0 B 0.093 N 0.976 P 0.69 N 1.6 T -0.998 T 0.000 T 0.058 1.744 11.79 2.18 0.114 0.529 2.251 1.7436 1.7436 0.09 0.191946 0.068017 NA 0.116 NA 9.7970874 672 3 124732618 124732618 A G exonic HEG1 NA nonsynonymous SNV HEG1:NM_020733:exon6:c.T1805C:p.F602S exonic ENSG00000173706 NA nonsynonymous SNV ENSG00000173706:ENST00000311127:exon6:c.T1805C:p.F602S Score=259;Name=lod=15 NA 3q21.2 NA NA NA NA rs6790837 0.44 0.44 0.41 0.441094 0.5358 0.4673 0.4409 0.2269 0.6063 0.55 0.48 0.44 0.23 0.4975 0.55 0.94 T 0.0 B 0.0 B . . 1.000 P -1.61 N -2.16 D -0.968 T 0.000 T 0.066 -0.85 0.549 3.35 0.750 2.578 9.274 -0.850305 NA 0.83 0.504916 0.255255 NA 0.355 NA 9.7951174 673 16 70690989 70690989 G C exonic IL34 NA nonsynonymous SNV IL34:NM_001172771:exon5:c.G364C:p.E122Q,IL34:NM_001172772:exon5:c.G367C:p.E123Q,IL34:NM_152456:exon5:c.G367C:p.E123Q exonic ENSG00000157368 NA nonsynonymous SNV ENSG00000157368:ENST00000288098:exon4:c.G367C:p.E123Q,ENSG00000157368:ENST00000566361:exon4:c.G292C:p.E98Q,ENSG00000157368:ENST00000429149:exon5:c.G367C:p.E123Q NA NA 16q22.1 NA Name=CTCF_(SC-5916),CTCF,Rad21 NA NA rs8046424 0.65 0.65 0.645 0.715056 0.4742 0.6687 0.5994 0.9826 0.7311 0.46 0.69 0.56 0.97 0.5764 0.97 0.9 T 0.0 B 0.0 B 0.374 N 1.000 P -1.04 N 0.93 T -0.976 T 0.000 T 0.017 1.319 10.33 3.04 1.197 1.221 2.441 1.319045 1.319045 0.59 0.488256 0.900364 NA 0.645 NA 9.7944774 673 3 112063850 112063850 C A exonic CD200 NA nonsynonymous SNV CD200:NM_005944:exon3:c.C136A:p.P46T,CD200:NM_001004196:exon4:c.C211A:p.P71T exonic ENSG00000091972 NA nonsynonymous SNV ENSG00000091972:ENST00000606471:exon2:c.C49A:p.P17T,ENSG00000091972:ENST00000315711:exon3:c.C136A:p.P46T,ENSG00000091972:ENST00000498096:exon3:c.C136A:p.P46T,ENSG00000091972:ENST00000607597:exon3:c.C115A:p.P39T,ENSG00000091972:ENST00000473539:exon4:c.C211A:p.P71T Score=346;Name=lod=34 NA 3q13.2 NA NA NA NA rs2272022 0.24 0.24 0.229 0.202476 0.3907 0.1359 0.2709 0.1188 0.1421 0.39 0.11 0.26 0.12 0.2841 0.39 0.73 T 0.513 P 0.147 B 0.006 N 0.000 P 0.41 N 1.83 T -0.943 T 0.000 T 0.088 0.068 4.367 4.19 0.831 0.953 7.310 0.067615 NA 0.71 0.365233 0.142079 NA 0.275 NA 9.7933004 673 6 43418733 43418733 G A exonic DLK2 NA synonymous SNV DLK2:NM_023932:exon6:c.C696T:p.H232H,DLK2:NM_206539:exon6:c.C696T:p.H232H exonic ENSG00000171462 NA synonymous SNV ENSG00000171462:ENST00000357338:exon6:c.C696T:p.H232H,ENSG00000171462:ENST00000372485:exon6:c.C678T:p.H226H,ENSG00000171462:ENST00000372488:exon6:c.C696T:p.H232H,ENSG00000171462:ENST00000414245:exon6:c.C678T:p.H226H Score=464;Name=lod=103 NA 6p21.1 Score=794;Name=V$PAX5_02 NA NA NA rs1214749 0.26 0.26 0.288 0.278954 0.2863 0.0804 0.2147 0.5424 0.1656 0.27 0.07 0.22 0.5 0.2775 0.5 . . . . . . . . 0.000 P . . . . -1.032 T 0.043 T . 0.048 4.262 -5.77 -1.278 -0.286 9.454 0.04777 NA NA 0.311047 0.502951 NA 0.312 NA 9.7918196 673 20 44469290 44469290 G A exonic SNX21 NA nonsynonymous SNV SNX21:NM_033421:exon4:c.G460A:p.A154T,SNX21:NM_152897:exon4:c.G460A:p.A154T exonic ENSG00000124104 NA nonsynonymous SNV ENSG00000124104:ENST00000372542:exon3:c.G433A:p.A145T,ENSG00000124104:ENST00000342644:exon4:c.G460A:p.A154T,ENSG00000124104:ENST00000491381:exon4:c.G460A:p.A154T Score=496;Name=lod=138 NA 20q13.12 Score=858;Name=V$PAX4_01 NA NA NA rs4638862 0.4 0.4 0.394 0.35024 0.5298 0.4276 0.5202 0.0658 0.3497 0.55 0.44 0.48 0.07 0.4789 0.55 0.39 T 0.05 B 0.013 B 0.028 N 0.000 P . . 1.65 T -0.925 T 0.000 T 0.082 0.947 8.862 2.39 0.473 1.246 3.931 0.947087 NA 0.41 0.533256 0.157059 NA 0.348 NA 9.7913774 673 20 31622083 31622083 G A exonic BPIFB6 NA nonsynonymous SNV BPIFB6:NM_174897:exon3:c.G289A:p.V97I exonic ENSG00000167104 NA nonsynonymous SNV ENSG00000167104:ENST00000349552:exon3:c.G289A:p.V97I Score=443;Name=lod=84 NA 20q11.21 Score=805;Name=V$PAX5_02 NA NA NA rs2070317 0.57 0.57 0.55 0.569089 0.5179 0.7579 0.5303 0.4592 0.6033 0.52 0.75 0.5 0.49 0.5157 0.75 0.8 T 0.001 B 0.001 B 0.001 N 1.000 P -1.89 N 3.66 T -1.039 T 0.000 T 0.042 0.086 4.462 4.7 0.649 2.180 7.220 0.08567 NA 1 0.510349 0.445302 NA 0.543 NA 9.7893844 674 9 136029645 136029645 G T exonic GBGT1 NA stopgain GBGT1:NM_021996:exon7:c.C363A:p.Y121X exonic ENSG00000148288 NA stopgain ENSG00000148288:ENST00000540636:exon6:c.C312A:p.Y104X,ENSG00000148288:ENST00000372040:exon7:c.C363A:p.Y121X Score=355;Name=lod=37 NA 9q34.2 NA NA NA NA rs35898523 0.05 0.05 0.055 0.0429313 0.0815 0.002 0.0418 0.034 0.0583 0.09 0.0035 0.04 0.05 0.0615 0.09 0.94 T . . . . . . 1.000 D . . 1.27 T -1.117 T 0.004 T . 3.367 17.35 1.47 0.008 0.687 6.090 3.367115 3.367115 NA 0.07314 0.045166 NA 0.029 NA 9.78386 674 1 180243524 180243524 A G exonic LHX4 NA nonsynonymous SNV LHX4:NM_033343:exon6:c.A983G:p.N328S exonic ENSG00000121454 NA nonsynonymous SNV ENSG00000121454:ENST00000263726:exon6:c.A983G:p.N328S Score=793;Name=lod=2223 NA 1q25.2 NA NA NA NA rs7536561 0.45 0.45 0.422 0.426318 0.5487 0.5942 0.3256 0.1165 0.6176 0.58 0.6 0.35 0.12 0.485 0.6 1 T 0.0 B 0.0 B 0.000 N 0.000 P 0.235 N -2.24 D -0.956 T 0.000 T 0.033 -0.197 3.045 3.27 0.377 2.529 6.920 -0.196658 NA 0.75 0.516047 0.204948 NA 0.471 NA 9.7835864 674 19 44418693 44418693 T C exonic ZNF45 NA nonsynonymous SNV ZNF45:NM_003425:exon10:c.A895G:p.T299A exonic ENSG00000124459 NA nonsynonymous SNV ENSG00000124459:ENST00000589703:exon4:c.A895G:p.T299A,ENSG00000124459:ENST00000269973:exon10:c.A895G:p.T299A Score=383;Name=lod=48 NA 19q13.31 NA Name=SETDB1 NA NA rs388706 0.57 0.57 0.545 0.525359 0.5169 0.7996 0.6499 0.3336 0.4223 0.51 0.82 0.58 0.38 0.5272 0.82 0.07 T 0.0 B 0.002 B 0.028 N 1.000 P 1.49 L 1.73 T -0.903 T 0.000 T 0.015 -0.384 2.197 -2.16 -1.254 -0.211 6.297 -0.383998 NA 0.04 0.50593 0.358148 NA 0.5 NA 9.7833034 674 2 47382342 47382342 G T exonic C2orf61 NA nonsynonymous SNV C2orf61:NM_001163561:exon1:c.C49A:p.L17M,C2orf61:NM_173649:exon1:c.C49A:p.L17M exonic ENSG00000239605 NA nonsynonymous SNV ENSG00000239605:ENST00000294947:exon1:c.C49A:p.L17M,ENSG00000239605:ENST00000445927:exon1:c.C49A:p.L17M NA NA 2p21 NA Name=Pol2 NA NA rs815804 0.16 0.16 0.164 0.126597 0.1819 0.1458 0.1297 0.1021 0.0808 0.19 0.15 0.13 0.13 0.1656 0.2 0.03 D 0.911 P 0.474 P . . 1.000 P 0.69 N 1.03 T -1.042 T 0.000 T 0.084 1.69 11.61 0.373 0.057 -0.363 11.525 1.689502 1.689502 0 0.203837 0.135497 NA 0.101 NA 9.7819964 674 4 6596360 6596360 G A exonic MAN2B2 NA nonsynonymous SNV MAN2B2:NM_015274:exon7:c.G958A:p.V320M exonic ENSG00000013288 NA nonsynonymous SNV ENSG00000013288:ENST00000285599:exon7:c.G958A:p.V320M,ENSG00000013288:ENST00000504248:exon7:c.G805A:p.V269M Score=387;Name=lod=50 NA 4p16.1 Score=839;Name=V$CHOP_01 NA NA NA rs2301795 0.47 0.47 0.468 0.455471 0.5388 0.3879 0.4755 0.4387 0.4479 0.53 0.38 0.47 0.47 0.4951 0.53 0.16 T 0.407 B 0.33 B 0.014 N 0.970 P 1.685 L -1.04 T -0.923 T 0.000 T 0.324 0.522 6.829 2.76 0.341 3.562 8.097 0.522162 NA 0.25 0.518023 0.438039 NA 0.543 NA 9.7814104 674 22 45258324 45258324 C T exonic ARHGAP8,PRR5-ARHGAP8 NA nonsynonymous SNV ARHGAP8:NM_181335:exon12:c.C1151T:p.P384L,ARHGAP8:NM_001017526:exon13:c.C1244T:p.P415L,PRR5-ARHGAP8:NM_181334:exon15:c.C1517T:p.P506L exonic ENSG00000241484,ENSG00000248405 NA nonsynonymous SNV ENSG00000241484:ENST00000356099:exon12:c.C1151T:p.P384L,ENSG00000241484:ENST00000389774:exon13:c.C1244T:p.P415L,ENSG00000248405:ENST00000361473:exon15:c.C1544T:p.P515L,ENSG00000241484:ENST00000389773:exon15:c.C1517T:p.P506L,ENSG00000248405:ENST00000352766:exon17:c.C1781T:p.P594L,ENSG00000241484:ENST00000517296:exon17:c.C1781T:p.P594L NA NA 22q13.31 NA NA NA NA rs2071762 0.21 0.21 0.195 0.22504 0.1759 0.3145 0.2493 0.0976 0.3384 0.17 0.35 0.26 0.09 0.2187 0.35 0.29 T 0.355 B 0.031 B 0.396 N 0.031 P 1.245 L 2.16 T -1.057 T 0.000 T 0.564 0.674 7.606 -7.34 -2.296 -1.175 9.202 0.673888 NA 0.28 0.157791 0.110531 NA 0.138 NA 9.7809424 674 3 41756965 41756965 C T exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon24:c.G2551A:p.V851I exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon24:c.G2551A:p.V851I NA NA 3p22.1 Score=730;Name=V$SEF1_C NA Name=8 NA rs61744388 0.25 0.25 0.268 0.265575 0.1839 0.1478 0.1628 0.5348 0.18 0.19 0.15 0.16 0.53 0.1975 0.53 0.35 T 0.002 B 0.005 B 0.060 N 1.000 P 0.695 N -0.01 T -0.973 T 0.000 T 0.041 0.768 8.06 -10.1 -2.451 -0.947 25.247 0.767962 NA 0.44 0.171332 0.469493 NA 0.283 NA 9.7806014 674 16 84513562 84513562 G A exonic TLDC1 NA nonsynonymous SNV TLDC1:NM_020947:exon8:c.C1328T:p.S443L exonic ENSG00000140950 NA nonsynonymous SNV ENSG00000140950:ENST00000343629:exon8:c.C1328T:p.S443L,ENSG00000140950:ENST00000535580:exon9:c.C1247T:p.S416L NA NA 16q24.1 NA NA NA NA rs34628943 0.01 0.01 0.007 0.00798722 0.0169 NA 0.0259 0.0015 0.0031 0.01 NA 0.03 0.002 0.015 0.03 0.03 D 0.667 P 0.088 B 0.333 N 1.000 N 2.015 M 3.06 T -1.070 T 0.010 T 0.101 0.62 7.339 1.65 0.276 0.545 10.800 0.620495 NA 0 0.023721 0.005682 NA 0.007 NA 9.7777124 674 1 152331240 152331240 G A exonic FLG2 NA nonsynonymous SNV FLG2:NM_001014342:exon2:c.C121T:p.L41F exonic ENSG00000143520 NA nonsynonymous SNV ENSG00000143520:ENST00000388718:exon2:c.C121T:p.L41F Score=473;Name=lod=112 NA 1q21.3 NA NA NA NA rs3818831 0.34 0.34 0.321 0.371805 0.1461 0.501 0.4222 0.4493 0.3303 0.15 0.49 0.36 0.42 0.2485 0.49 1 T 0.0 B 0.0 B . . 1.000 P -0.335 N 2.36 T -0.934 T 0.005 T 0.079 -0.391 2.168 5.26 0.946 1.519 8.297 -0.390521 NA 1 0.161163 0.403314 NA 0.341 NA 9.7775704 674 1 31347399 31347399 C T exonic SDC3 NA nonsynonymous SNV SDC3:NM_014654:exon4:c.G907A:p.D303N exonic ENSG00000162512 NA nonsynonymous SNV ENSG00000162512:ENST00000336798:exon2:c.G733A:p.D245N,ENSG00000162512:ENST00000339394:exon4:c.G907A:p.D303N NA NA 1p35.2 NA NA NA NA rs4949184 0.18 0.18 0.173 0.234425 0.1799 0.0665 0.1628 0.3782 0.32 0.16 0.04 0.15 0.37 0.194 0.37 0.2 T 0.008 B 0.015 B 0.009 N 0.998 P 0.205 N 1.81 T -0.950 T 0.000 T 0.003 3.891 19.78 4.7 2.454 3.045 6.755 3.890788 3.890788 0.04 0.181977 0.310259 NA 0.239 NA 9.7774564 674 9 136199466 136199466 G A exonic SURF6 NA nonsynonymous SNV SURF6:NM_006753:exon4:c.C524T:p.T175M exonic ENSG00000148296 NA nonsynonymous SNV ENSG00000148296:ENST00000372022:exon4:c.C524T:p.T175M NA NA 9q34.2 NA NA NA NA rs886089 0.27 0.27 0.229 0.28095 0.3569 0.2986 0.3501 0.0386 0.4632 0.37 0.27 0.34 0.06 0.3496 0.37 0.1 T 0.532 P 0.125 B 0.145 N 1.000 P 0 N 2.5 T -1.012 T 0.000 T 0.048 0.875 8.549 -8.28 -3.813 -1.892 1.671 0.875047 NA 0.08 0.350814 0.08443 ID=COSM1569382;OCCURENCE=1(large_intestine) 0.21 NA 9.7760194 674 3 193080414 193080414 C G exonic ATP13A5 NA nonsynonymous SNV ATP13A5:NM_198505:exon4:c.G397C:p.E133Q exonic ENSG00000187527 NA nonsynonymous SNV ENSG00000187527:ENST00000342358:exon4:c.G397C:p.E133Q,ENSG00000187527:ENST00000446087:exon5:c.G463C:p.E155Q Score=470;Name=lod=108 NA 3q29 NA NA NA NA rs6797429 0.53 0.53 0.544 0.513778 0.5288 0.3859 0.5259 0.646 0.4427 0.54 0.41 0.56 0.64 0.5117 0.64 0.72 T 0.0 B 0.001 B 0.006 N 1.000 P -1.1 N 1.75 T -0.995 T 0.000 T 0.052 -0.913 0.411 5.6 1.534 2.617 13.352 -0.913282 NA 0.96 0.517558 0.616432 NA 0.565 NA 9.7752754 675 8 48885436 48885436 T A exonic MCM4 NA nonsynonymous SNV MCM4:NM_005914:exon13:c.T1948A:p.L650M,MCM4:NM_182746:exon14:c.T1948A:p.L650M exonic ENSG00000104738 NA nonsynonymous SNV ENSG00000104738:ENST00000262105:exon13:c.T1948A:p.L650M,ENSG00000104738:ENST00000523944:exon14:c.T1948A:p.L650M Score=596;Name=lod=352 NA 8q11.21 NA Name=Pol2-4H8 NA NA rs762679 0.92 0.92 0.936 0.914137 0.8449 1 0.9222 0.941 0.8548 0.83 1 0.9 0.96 0.8669 1 0.83 T 0.002 B 0.011 B 0.000 N 0.000 P 0.18 N 2.56 T -0.942 T 0.000 T 0.275 1.118 9.559 5.32 0.967 7.133 10.738 1.117856 NA 0.79 0.847093 0.923513 NA 0.978 NA 9.7744404 675 5 151775064 151775064 C G exonic NMUR2 NA nonsynonymous SNV NMUR2:NM_020167:exon3:c.G893C:p.S298T exonic ENSG00000132911 NA nonsynonymous SNV ENSG00000132911:ENST00000255262:exon3:c.G893C:p.S298T Score=369;Name=lod=42 NA 5q33.1 NA NA NA NA rs4958535 0.13 0.13 0.111 0.122804 0.2038 0.0258 0.2954 0.0121 0.1667 0.21 0.04 0.27 0.01 0.1744 0.27 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.135 N -0.48 T -1.042 T 0.000 T 0.015 0.044 4.243 2.97 0.060 3.998 5.795 0.044036 NA 1 0.18093 0.053109 NA 0.13 NA 9.7742034 675 5 151771838 151771838 T C exonic NMUR2 NA nonsynonymous SNV NMUR2:NM_020167:exon4:c.A1162G:p.M388V exonic ENSG00000132911 NA nonsynonymous SNV ENSG00000132911:ENST00000255262:exon4:c.A1162G:p.M388V NA NA 5q33.1 Score=942;Name=V$TCF11_01 NA NA NA rs4958531 0.13 0.13 0.103 0.122804 0.2038 0.0258 0.2954 0.0121 0.1667 0.21 0.04 0.27 0.01 0.1745 0.27 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.15 N -0.28 T -1.092 T 0.000 T 0.009 -1.684 0.012 -7.17 -1.680 -0.557 2.861 -1.683941 NA 1 0.18093 0.053336 NA 0.152 NA 9.7741034 675 19 37879589 37879589 A G exonic ZNF527 NA nonsynonymous SNV ZNF527:NM_032453:exon5:c.A638G:p.H213R exonic ENSG00000189164 NA nonsynonymous SNV ENSG00000189164:ENST00000436120:exon5:c.A638G:p.H213R NA NA 19q13.12 NA NA NA NA rs4452075 0.31 0.31 0.282 0.345647 0.1581 0.3006 0.2666 0.5303 0.3916 0.15 0.33 0.3 0.52 0.2338 0.52 0.01 D 0.009 B 0.016 B 0.678 N 1.000 P 1.905 M . . -0.941 T 0.000 T 0.103 1.511 11 -0.451 -0.407 1.296 6.376 1.510539 1.510539 0.18 0.168841 0.472437 NA 0.297 NA 9.7725924 675 5 151772055 151772055 G T exonic NMUR2 NA nonsynonymous SNV NMUR2:NM_020167:exon4:c.C945A:p.F315L exonic ENSG00000132911 NA nonsynonymous SNV ENSG00000132911:ENST00000255262:exon4:c.C945A:p.F315L Score=540;Name=lod=209 NA 5q33.1 NA NA NA NA rs1895245 0.13 0.13 0.103 0.122804 0.2038 0.0258 0.2954 0.0121 0.1667 0.21 0.04 0.27 0.01 0.1764 0.27 1 T 0.01 B 0.01 B 0.003 N 0.151 P -0.025 N 1.61 T -0.952 T 0.000 T 0.096 0.329 5.783 2.2 -0.007 2.077 9.623 0.328848 NA 0.39 0.18093 0.053336 NA 0.152 NA 9.7722034 675 12 80750659 80750659 G A exonic OTOGL NA nonsynonymous SNV OTOGL:NM_173591:exon48:c.G5957A:p.R1986Q exonic ENSG00000165899 NA nonsynonymous SNV ENSG00000165899:ENST00000550182:exon1:c.G8A:p.R3Q,ENSG00000165899:ENST00000546620:exon2:c.G14A:p.R5Q,ENSG00000165899:ENST00000458043:exon48:c.G5957A:p.R1986Q,ENSG00000165899:ENST00000547103:exon48:c.G5921A:p.R1974Q Score=555;Name=lod=240 NA 12q21.31 NA NA NA NA rs11836060 0.15 0.15 0.139 0.171526 0.1819 0.0506 0.2075 0.1838 0.2434 0.18 0.05 0.21 0.17 0.1829 0.21 0.53 T 0.001 B 0.001 B 0.010 N 0.908 P 0.305 N 1.61 T -0.970 T 0.000 T 0.138 2.393 13.96 4.06 0.253 3.251 7.626 2.393127 2.393127 0.29 0.196512 0.186791 NA 0.072 NA 9.7720214 675 4 951947 951947 T C exonic TMEM175 NA nonsynonymous SNV TMEM175:NM_032326:exon11:c.T1178C:p.M393T exonic ENSG00000127419 NA nonsynonymous SNV ENSG00000127419:ENST00000508204:exon9:c.T932C:p.M311T,ENSG00000127419:ENST00000515740:exon9:c.T830C:p.M277T,ENSG00000127419:ENST00000264771:exon11:c.T1178C:p.M393T Score=313;Name=lod=25 NA 4p16.3 NA NA NA NA rs34311866 0.12 0.12 0.124 0.139976 0.1869 0.131 0.0879 0.0083 0.316 0.2 0.12 0.07 0.01 0.1855 0.2 0.01 D 0.0 B 0.001 B 0.018 N 1.000 P 0 N 1.56 T -1.044 T 0.000 T 0.408 0.003 4.032 0.788 -0.078 1.299 7.523 0.003419 NA 0 0.189595 0.035471 NA 0.072 NA 9.7713384 675 20 47269233 47269233 C G exonic PREX1 NA nonsynonymous SNV PREX1:NM_020820:exon21:c.G2358C:p.Q786H exonic ENSG00000124126 NA nonsynonymous SNV ENSG00000124126:ENST00000371941:exon21:c.G2358C:p.Q786H,ENSG00000124126:ENST00000396220:exon21:c.G2358C:p.Q786H Score=515;Name=lod=165 NA 20q13.13 NA NA NA NA rs41283558 0.14 0.14 0.121 0.149561 0.1849 0.1468 0.2118 0.0197 0.2474 0.18 0.14 0.22 0.03 0.19 0.22 0.2 T 0.018 B 0.035 B 0.002 N 0.000 P 1.59 L 0.99 T -1.069 T 0.000 T 0.225 2.228 13.41 3.56 0.893 3.347 13.953 2.228164 2.228164 0 0.188721 0.056741 ID=COSM1412287,COSM1412286;OCCURENCE=1(large_intestine) 0.123 NA 9.7697124 675 22 20307256 20307256 G A exonic DGCR6L NA synonymous SNV DGCR6L:NM_033257:exon2:c.C177T:p.T59T exonic ENSG00000128185 NA nonsynonymous SNV ENSG00000128185:ENST00000405465:exon2:c.C164T:p.P55L Score=651;Name=lod=588 NA 22q11.21 NA Name=HA-E2F1,Pol2 NA NA rs7235 0.27 0.27 0.241 0.239217 0.4314 0.1766 0.2205 0.1271 0.271 0.44 0.19 0.23 0.11 0.3602 0.44 1 T . . . . . . 0.000 P . . 1.29 T -0.956 T 0.000 T . -0.658 1.11 -2.34 -0.496 -1.230 6.272 -0.658346 NA 1 0.438939 0.162733 ID=COSM149253;OCCURENCE=1(stomach) 0.181 NA 9.769461 675 7 105177041 105177041 A T exonic RINT1 NA nonsynonymous SNV RINT1:NM_021930:exon3:c.A118T:p.S40C exonic ENSG00000135249 NA nonsynonymous SNV ENSG00000135249:ENST00000257700:exon3:c.A118T:p.S40C,ENSG00000135249:ENST00000467392:exon3:c.A118T:p.S40C,ENSG00000135249:ENST00000497979:exon3:c.A118T:p.S40C NA NA 7q22.3 NA NA NA NA rs11556986 0.16 0.16 0.157 0.191494 0.1948 0.0218 0.17 0.2738 0.2669 0.21 0.01 0.17 0.25 0.1891 0.25 0.05 D 0.0 B 0.002 B 0.081 N 1.000 P 1.245 L 1.8 T -1.020 T 0.000 T 0.063 1.065 9.35 2.75 0.279 1.413 6.722 1.065381 NA 0.01 0.18 0.253518 NA 0.159 NA 9.7694334 675 3 42772038 42772038 A T exonic CCDC13 NA nonsynonymous SNV CCDC13:NM_144719:exon13:c.T1639A:p.S547T exonic ENSG00000244607 NA nonsynonymous SNV ENSG00000244607:ENST00000310232:exon13:c.T1639A:p.S547T NA NA 3p22.1 NA Name=RXRA,HNF4G_(SC-6558),TCF4 Name=2 NA rs12495805 0.2 0.2 0.21 0.204073 0.1849 0.1081 0.1844 0.2451 0.2812 0.19 0.12 0.21 0.28 0.1968 0.28 0.61 T 0.0 B 0.0 B 0.039 N 1.000 P -1.935 N 2.86 T -0.946 T 0.000 T 0.017 -0.83 0.599 -3.26 -0.933 -0.454 10.147 -0.829686 NA 1 0.182209 0.244439 NA 0.225 NA 9.7694244 676 10 100190920 100190920 G A exonic HPS1 NA synonymous SNV HPS1:NM_000195:exon7:c.C636T:p.L212L,HPS1:NM_182639:exon7:c.C636T:p.L212L exonic ENSG00000107521 NA synonymous SNV ENSG00000107521:ENST00000359632:exon1:c.C120T:p.L40L,ENSG00000107521:ENST00000325103:exon7:c.C636T:p.L212L,ENSG00000107521:ENST00000338546:exon7:c.C636T:p.L212L,ENSG00000107521:ENST00000361490:exon7:c.C636T:p.L212L NA NA 10q24.2 Score=873;Name=V$ELK1_02 NA Name=8 NA rs1801287 0.28 0.28 0.262 0.282947 0.2952 0.3442 0.2911 0.1369 0.3988 0.3 0.35 0.29 0.14 0.3157 0.35 . . . . . . . . 0.000 P . . . . -1.056 T 0.000 T . 0.573 7.097 -10.6 -2.442 -1.746 8.234 0.573403 NA NA 0.292442 0.134362 ID=COSM426895;OCCURENCE=1(breast) 0.239 NA 9.7633246 676 1 228504591 228504591 C A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon51:c.C13467A:p.H4489Q,OBSCN:NM_052843:exon51:c.C13467A:p.H4489Q,OBSCN:NM_001271223:exon62:c.C16338A:p.H5446Q exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon51:c.C13467A:p.H4489Q,ENSG00000154358:ENST00000366709:exon51:c.C4824A:p.H1608Q,ENSG00000154358:ENST00000422127:exon51:c.C13467A:p.H4489Q,ENSG00000154358:ENST00000366707:exon57:c.C6369A:p.H2123Q,ENSG00000154358:ENST00000570156:exon62:c.C16338A:p.H5446Q NA NA 1q42.13 NA NA NA NA rs61825301 0.16 0.16 0.133 0.145367 0.159 0.1518 0.2349 0.121 0.0941 0.16 0.15 0.24 0.1 0.2444 0.24 0.29 T 0.999 D 0.921 D 0.000 D 1.000 P 1.855 L 0.6 T -1.041 T 0.000 T 0.357 1.937 12.44 0.187 -0.223 -0.722 9.788 1.93745 1.93745 0.25 0.167182 0.157343 NA 0.145 NA 9.7627514 676 1 206626607 206626607 G A exonic SRGAP2 NA unknown UNKNOWN exonic ENSG00000163486 NA synonymous SNV ENSG00000163486:ENST00000439126:exon11:c.G1083A:p.L361L,ENSG00000163486:ENST00000414007:exon16:c.G1821A:p.L607L,ENSG00000163486:ENST00000419187:exon16:c.G156A:p.L52L Score=604;Name=lod=381 NA 1q32.1 Score=782;Name=V$E2F_01 NA NA NA rs11120575 0.37 0.37 0.393 0.346046 0.5338 0.2708 0.3948 0.1989 0.3947 0.55 0.24 0.42 0.21 0.523 0.55 . . . . . . . . 0.711 P . . . . -0.896 T 0.000 T . 1.584 11.25 5.62 2.633 1.812 18.649 1.58447 1.58447 NA 0.514563 0.251212 NA 0.413 NA 9.7619703 676 15 91083353 91083353 G A exonic CRTC3 NA nonsynonymous SNV CRTC3:NM_001042574:exon2:c.G215A:p.S72N,CRTC3:NM_022769:exon2:c.G215A:p.S72N exonic ENSG00000140577 NA nonsynonymous SNV ENSG00000140577:ENST00000268184:exon2:c.G215A:p.S72N,ENSG00000140577:ENST00000420329:exon2:c.G215A:p.S72N,ENSG00000140577:ENST00000560098:exon2:c.G215A:p.S72N NA NA 15q26.1 Score=780;Name=V$HEN1_02 NA NA NA rs8033595 0.39 0.39 0.386 0.373602 0.5626 0.1786 0.3674 0.3729 0.3855 0.55 0.18 0.45 0.35 0.4612 0.55 0.26 T 0.955 P 0.85 P 0.003 N 0.804 P -0.08 N 2.73 T -1.014 T 0.000 T 0.029 2.131 13.08 2.37 0.370 1.228 8.605 2.131448 2.131448 0.29 0.547697 0.401501 NA 0.355 NA 9.7618364 676 16 30536918 30536918 C G exonic ZNF768 NA nonsynonymous SNV ZNF768:NM_024671:exon2:c.G543C:p.E181D exonic ENSG00000169957 NA nonsynonymous SNV ENSG00000169957:ENST00000380412:exon2:c.G543C:p.E181D,ENSG00000169957:ENST00000562803:exon2:c.G450C:p.E150D Score=289;Name=lod=20 NA 16p11.2 NA NA NA NA rs10871453 0.29 0.29 0.296 0.267971 0.3827 0.005 0.2695 0.4856 0.1258 0.37 0.0017 0.31 0.49 0.2995 0.49 0.34 T 0.963 D 0.543 P 0.000 D 0.862 P 0 N 3.21 T -0.975 T 0.000 T 0.338 2.843 15.47 0.635 -0.007 0.396 3.762 2.842609 2.842609 NA 0.389302 0.460628 NA 0.326 NA 9.7618314 676 7 156469179 156469179 C T exonic RNF32 NA nonsynonymous SNV RNF32:NM_001184996:exon9:c.C919T:p.R307C,RNF32:NM_001184997:exon9:c.C919T:p.R307C,RNF32:NM_030936:exon9:c.C919T:p.R307C exonic ENSG00000105982 NA nonsynonymous SNV ENSG00000105982:ENST00000343665:exon7:c.C847T:p.R283C,ENSG00000105982:ENST00000317955:exon9:c.C919T:p.R307C,ENSG00000105982:ENST00000392743:exon9:c.C919T:p.R307C,ENSG00000105982:ENST00000432459:exon9:c.C919T:p.R307C,ENSG00000105982:ENST00000405335:exon10:c.C919T:p.R307C NA NA 7q36.3 NA Name=Pol2 NA NA rs2302146 0.42 0.42 0.427 0.402556 0.3559 0.4058 0.415 0.531 0.2648 0.38 0.41 0.38 0.53 0.371 0.53 0.04 D 0.986 D 0.594 P 0.097 N 1.000 P 0.895 L -0.26 T -1.001 T 0.000 T 0.054 2.323 13.73 -0.589 -0.157 0.486 2.196 2.323027 2.323027 0.05 0.345 0.488652 NA 0.014 NA 9.7614334 676 10 102684380 102684380 C A exonic FAM178A NA nonsynonymous SNV FAM178A:NM_001136123:exon5:c.C1622A:p.S541Y,FAM178A:NM_018121:exon5:c.C1622A:p.S541Y exonic ENSG00000119906 NA nonsynonymous SNV ENSG00000119906:ENST00000238961:exon5:c.C1622A:p.S541Y,ENSG00000119906:ENST00000370269:exon5:c.C1622A:p.S541Y,ENSG00000119906:ENST00000370271:exon5:c.C1622A:p.S541Y Score=352;Name=lod=36 NA 10q24.31 NA NA NA NA rs10883563 0.33 0.33 0.287 0.31869 0.5746 0.0952 0.4769 0.1619 0.3855 0.58 0.1 0.46 0.12 0.4574 0.58 0.51 T 1.0 D 0.971 D 0.001 N 0.569 P 0.805 L 0.77 T -0.943 T 0.000 T 0.37 2.469 14.21 4.17 0.874 0.681 13.491 2.468846 2.468846 0.04 0.541047 0.207898 NA 0.348 NA 9.7602864 676 14 64497930 64497930 G A exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon45:c.G7076A:p.S2359N,SYNE2:NM_182914:exon45:c.G7076A:p.S2359N exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000554584:exon44:c.G7076A:p.S2359N,ENSG00000054654:ENST00000344113:exon45:c.G7076A:p.S2359N,ENSG00000054654:ENST00000358025:exon45:c.G7076A:p.S2359N Score=278;Name=lod=18 NA 14q23.2 NA NA NA NA rs4027404 0.69 0.69 0.707 0.702476 0.8757 0.7798 0.8069 0.4236 0.7474 0.8 0.76 0.76 0.4 0.8209 0.88 0.52 T 0.004 B 0.012 B 0.051 N 0.000 P 0.895 L 0.72 T -0.995 T 0.000 T 0.02 -0.18 3.123 3.1 1.208 0.982 5.694 -0.180117 NA 0.44 0.878191 0.527614 NA 0.703 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118548.1;CLNDSDB=.;CLNDSDBID=. 9.7585424 676 12 8329676 8329676 C T exonic ZNF705A NA nonsynonymous SNV ZNF705A:NM_001004328:exon5:c.C400T:p.R134C exonic ENSG00000196946 NA nonsynonymous SNV ENSG00000196946:ENST00000359286:exon5:c.C400T:p.R134C,ENSG00000196946:ENST00000396570:exon6:c.C400T:p.R134C NA NA 12p13.31 NA NA NA NA rs10743252 0.46 0.46 0.419 0.501398 0.5845 0.5288 0.4914 0.4992 0.3978 0.5 0.48 0.45 0.36 0.5053 0.5 0.05 D 0.0 B 0.0 B . . 1.000 P 0.205 N 3.07 T -0.928 T 0.000 T 0.044 -0.677 1.048 -2.7 -2.873 -1.071 3.854 -0.676742 NA 0.19 0.486505 0.421471 ID=COSM147415;OCCURENCE=1(stomach) NA NA 9.7570284 676 20 56137895 56137895 G C exonic PCK1 NA nonsynonymous SNV PCK1:NM_002591:exon4:c.G550C:p.V184L exonic ENSG00000124253 NA nonsynonymous SNV ENSG00000124253:ENST00000535860:exon2:c.G154C:p.V52L,ENSG00000124253:ENST00000319441:exon4:c.G550C:p.V184L Score=383;Name=lod=48 NA 20q13.31 Score=708;Name=V$HOX13_01 NA NA NA rs707555 0.87 0.87 0.876 0.846046 0.8648 0.7798 0.8055 0.9962 0.7209 0.86 0.79 0.84 0.99 0.8463 0.99 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.99 N 3.96 T -0.924 T 0.000 T 0.235 -0.175 3.147 5.13 1.304 4.387 16.134 -0.174947 NA 1 0.865698 0.970495 NA 0.891 NA 9.7565354 676 18 56205262 56205262 A C exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.T2157G:p.H719Q exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.T2157G:p.H719Q NA NA 18q21.32 NA Name=Pol2-4H8,EBF,Pol2 NA NA rs12103986 0.44 0.44 0.426 0.404353 0.5736 0.2361 0.4294 0.4312 0.3497 0.59 0.24 0.51 0.38 0.47 0.59 1 T 0.0 B 0.001 B 0.940 N 1.000 P -0.55 N 1.07 T -0.960 T 0.000 T 0.03 -0.931 0.376 -5.12 -1.351 -1.093 10.123 -0.931153 NA 0 0.53407 0.450976 NA 0.522 NA 9.7556634 677 1 111957592 111957592 A G exonic OVGP1 NA nonsynonymous SNV OVGP1:NM_002557:exon11:c.T1531C:p.S511P exonic ENSG00000085465 NA nonsynonymous SNV ENSG00000085465:ENST00000369732:exon11:c.T1531C:p.S511P NA NA 1p13.2 NA Name=RXRA,FOSL2 NA NA rs56294468 0.2 0.2 0.15 0.223243 0.2763 0.1587 0.1715 0.1989 0.3047 0.27 0.13 0.19 0.18 0.0041 0.3 0.34 T 0.0 B 0.0 B . . 1.000 P -0.805 N 3.95 T -0.920 T 0.001 T 0.045 -0.131 3.357 -5.52 -1.460 -0.421 4.337 -0.131299 NA 0.28 0.299884 0.176551 NA 0.072 NA 9.7530494 677 17 47039132 47039132 T C exonic GIP NA nonsynonymous SNV GIP:NM_004123:exon4:c.A307G:p.S103G exonic ENSG00000159224 NA nonsynonymous SNV ENSG00000159224:ENST00000357424:exon4:c.A307G:p.S103G NA NA 17q21.32 NA Name=eGFP-FOS,FOSL2,Egr-1,c-Fos,Pol2-4H8,GATA-2,Rad21,ELF1_(SC-631),GR,FOSL1_(SC-183),p300,RXRA,CHD2_(N-1250),TCF4,Pol2,NRSF Name=105 NA rs2291725 0.46 0.46 0.45 0.422524 0.5497 0.6835 0.451 0.0651 0.4857 0.56 0.7 0.43 0.07 0.4953 0.7 0.65 T 0.0 B 0.0 B 0.476 N 1.000 P -0.205 N 1.88 T -0.974 T 0.000 T 0.008 -0.287 2.629 -5.07 -1.203 0.042 4.524 -0.28691 NA 0.72 0.535349 0.142533 ID=COSM148293;OCCURENCE=1(stomach) 0.362 NA 9.7529844 677 2 74710491 74710491 C T exonic TTC31 NA nonsynonymous SNV TTC31:NM_022492:exon2:c.C83T:p.A28V exonic ENSG00000115282 NA nonsynonymous SNV ENSG00000115282:ENST00000233623:exon2:c.C83T:p.A28V,ENSG00000115282:ENST00000410003:exon2:c.C83T:p.A28V,ENSG00000115282:ENST00000424122:exon2:c.C83T:p.A28V,ENSG00000115282:ENST00000449459:exon2:c.C83T:p.A28V Score=385;Name=lod=49 NA 2p13.1 NA Name=Rad21,NFKB,SRF,CTCF_(C-20),SIX5,PAX5-C20,TCF12,CTCF,CTCFL_(SC-98982),Znf143_(16618-1-AP),GATA-1,SMC3_(ab9263),Pol2,CTCF_(SC-5916),ZNF263,HA-E2F1 Name=148 NA rs6707475 0.51 0.51 0.527 0.547324 0.159 0.8224 0.3256 0.907 0.3344 0.15 0.82 0.27 0.89 0.2797 0.89 1 T 0.0 B 0.0 B 0.049 N 0.000 P -1.61 N 1.16 T -1.001 T 0.000 T 0.058 2.535 14.44 0.28 -0.006 -0.054 3.169 2.534928 2.534928 0.66 0.144573 0.760051 NA 0.464 NA 9.7500604 677 6 31378358 31378358 T G exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon2:c.T109G:p.W37G,MICA:NM_001177519:exon2:c.T109G:p.W37G exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon2:c.T70G:p.W24G,ENSG00000204520:ENST00000449934:exon2:c.T109G:p.W37G NA NA 6p21.33 NA NA NA NA rs1063630 0.26 0.26 0.214 0.268171 0.1928 0.1786 0.3386 0.3797 0.2372 0.21 0.17 0.39 0.36 0.2227 0.39 0.05 D 0.355 B 0.234 B 0.126 N 1.000 P 0.455 N 5.86 T -0.949 T 0.001 T 0.276 0.451 6.451 -2.15 -0.789 -0.968 4.674 0.451312 NA 0.01 0.168242 0.343931 NA 0.217 NA 9.7495914 677 12 109937534 109937534 G A exonic UBE3B NA nonsynonymous SNV UBE3B:NM_130466:exon12:c.G1037A:p.R346Q,UBE3B:NM_183415:exon12:c.G1037A:p.R346Q exonic ENSG00000151148 NA nonsynonymous SNV ENSG00000151148:ENST00000539599:exon11:c.G1037A:p.R346Q,ENSG00000151148:ENST00000280774:exon12:c.G1037A:p.R346Q,ENSG00000151148:ENST00000342494:exon12:c.G1037A:p.R346Q,ENSG00000151148:ENST00000434735:exon12:c.G1037A:p.R346Q,ENSG00000151148:ENST00000449510:exon12:c.G1037A:p.R346Q Score=539;Name=lod=206 NA 12q24.11 NA NA NA NA rs7298565 0.52 0.52 0.535 0.517173 0.5417 0.3105 0.4899 0.7731 0.3783 0.55 0.29 0.51 0.74 0.5102 0.74 0.83 T 0.0 B 0.0 B 0.000 N 0.000 P -2.215 N 1.7 T -0.959 T 0.000 T 0.215 1.177 9.788 5.64 0.974 7.276 11.013 1.177035 NA 0.81 0.532326 0.731276 NA 0.529 NA 9.7491074 677 7 23757162 23757162 G C exonic STK31 NA nonsynonymous SNV STK31:NM_001260504:exon4:c.G144C:p.Q48H,STK31:NM_001260505:exon4:c.G213C:p.Q71H,STK31:NM_031414:exon4:c.G213C:p.Q71H,STK31:NM_032944:exon4:c.G144C:p.Q48H exonic;splicing ENSG00000196335;ENSG00000196335 ENST00000422637:exon4:c.82-1G>C nonsynonymous SNV ENSG00000196335:ENST00000354639:exon4:c.G144C:p.Q48H,ENSG00000196335:ENST00000355870:exon4:c.G213C:p.Q71H,ENSG00000196335:ENST00000428484:exon4:c.G144C:p.Q48H,ENSG00000196335:ENST00000433467:exon4:c.G213C:p.Q71H,ENSG00000196335:ENST00000444333:exon4:c.G144C:p.Q48H,ENSG00000196335:ENST00000456014:exon4:c.G144C:p.Q48H Score=462;Name=lod=101 NA 7p15.3 NA NA NA NA rs6945306 0.25 0.25 0.227 NA NA NA NA NA NA 0.29 0.35 0.18 0.13 0.2945 0.35 0.31 T 0.001 B 0.005 B 0.968 N 1.000 P 0.345 N 2.94 T -0.903 T 0.000 T 0.273 0.225 5.213 2.95 0.838 1.356 6.068 0.224817 NA 0.2 0.289767 0.16591 NA 0.181 NA 9.7490664 677 2 239155053 239155053 C T exonic PER2 NA nonsynonymous SNV PER2:NM_022817:exon23:c.G3731A:p.G1244E exonic ENSG00000132326 NA nonsynonymous SNV ENSG00000132326:ENST00000254657:exon23:c.G3731A:p.G1244E NA NA 2q37.3 NA NA NA NA rs934945 0.19 0.19 0.166 0.17472 0.1789 0.2639 0.317 0.0083 0.2025 0.19 0.27 0.3 0.01 0.2176 0.3 1 T 0.02 B 0.008 B 0.886 N 1.000 P 1.04 L 2.9 T -0.929 T 0.000 T 0.039 1.19 9.836 2.88 1.224 1.428 5.508 1.189691 NA 1 0.189884 0.044258 NA 0.225 NA 9.7469494 678 9 140051376 140051376 G A exonic GRIN1 NA synonymous SNV GRIN1:NM_000832:exon6:c.G855A:p.V285V,GRIN1:NM_007327:exon6:c.G855A:p.V285V,GRIN1:NM_021569:exon6:c.G855A:p.V285V,GRIN1:NM_001185090:exon7:c.G918A:p.V306V,GRIN1:NM_001185091:exon7:c.G918A:p.V306V exonic ENSG00000176884 NA synonymous SNV ENSG00000176884:ENST00000315048:exon6:c.G855A:p.V285V,ENSG00000176884:ENST00000350902:exon6:c.G855A:p.V285V,ENSG00000176884:ENST00000371550:exon6:c.G855A:p.V285V,ENSG00000176884:ENST00000371559:exon6:c.G855A:p.V285V,ENSG00000176884:ENST00000371561:exon6:c.G855A:p.V285V,ENSG00000176884:ENST00000371546:exon7:c.G918A:p.V306V,ENSG00000176884:ENST00000371553:exon7:c.G918A:p.V306V,ENSG00000176884:ENST00000371555:exon7:c.G918A:p.V306V,ENSG00000176884:ENST00000371560:exon7:c.G918A:p.V306V Score=526;Name=lod=183 NA 9q34.3 Score=845;Name=V$EGR3_01 Name=ZNF263,Egr-1,SUZ12,E2F6_(H-50),SP1,Pol2 Name=87 NA rs1126442 0.16 0.16 0.136 0.139577 0.336 0.002 0.2017 0.0265 0.1881 0.34 0.0017 0.21 0.03 0.2679 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.036959 2.036959 NA 0.319241 0.065544 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117172.2;CLNDSDB=.;CLNDSDBID=. 9.7435256 678 2 100210642 100210642 T C exonic AFF3 NA nonsynonymous SNV AFF3:NM_001025108:exon14:c.A1556G:p.N519S,AFF3:NM_002285:exon14:c.A1481G:p.N494S exonic ENSG00000144218 NA nonsynonymous SNV ENSG00000144218:ENST00000409236:exon13:c.A1481G:p.N494S,ENSG00000144218:ENST00000317233:exon14:c.A1481G:p.N494S,ENSG00000144218:ENST00000356421:exon14:c.A1556G:p.N519S,ENSG00000144218:ENST00000409579:exon15:c.A1556G:p.N519S NA NA 2q11.2 NA NA Name=2 NA rs1047265 0.14 0.14 0.137 0.147764 0.2038 0.0873 0.1239 0.0877 0.2505 0.21 0.1 0.14 0.08 0.1833 0.21 0.74 T 0.002 B 0.008 B 0.279 N 1.000 P 1.01 L -0.01 T -1.143 T 0.000 T 0.003 -0.828 0.604 -11.7 -2.514 -1.095 8.322 -0.827843 NA 0.74 0.202907 0.115751 NA 0.225 NA 9.7433264 678 3 171404478 171404478 C A exonic PLD1 NA nonsynonymous SNV PLD1:NM_002662:exon16:c.G1864T:p.A622S exonic ENSG00000075651 NA nonsynonymous SNV ENSG00000075651:ENST00000340989:exon16:c.G1864T:p.A622S,ENSG00000075651:ENST00000351298:exon16:c.G1864T:p.A622S NA NA 3q26.31 NA NA NA NA rs2290480 0.15 0.15 0.134 0.165535 0.1988 0.13 0.1052 0.1384 0.2474 0.2 0.12 0.12 0.13 0.1869 0.27 0.82 T 0.0 B 0.0 B 0.000 N 1.000 P -0.345 N 3.43 T -0.964 T 0.000 T 0.063 0.417 6.267 -8.81 -2.053 -3.644 9.557 0.417295 NA 0.13 0.204884 0.128007 ID=COSM1162698;OCCURENCE=1(pancreas) 0.181 NA 9.7427494 678 5 78340286 78340286 A G exonic DMGDH NA nonsynonymous SNV DMGDH:NM_013391:exon6:c.T835C:p.S279P exonic ENSG00000132837 NA nonsynonymous SNV ENSG00000132837:ENST00000380311:exon3:c.T232C:p.S78P,ENSG00000132837:ENST00000523732:exon3:c.T352C:p.S118P,ENSG00000132837:ENST00000255189:exon6:c.T835C:p.S279P Score=516;Name=lod=167 NA 5q14.1 NA NA NA NA rs532964 0.61 0.61 0.609 0.615216 0.506 0.7798 0.5879 0.6271 0.5613 0.5 0.78 0.61 0.58 0.5614 0.78 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.265 N 1.78 T -0.956 T 0.000 T 0.205 0.87 8.528 5.29 1.388 7.831 14.534 0.870415 NA 1 0.526279 0.600999 NA 0.551 NA 9.7396544 679 16 21151913 21151913 G T exonic DNAH3 NA nonsynonymous SNV DNAH3:NM_017539:exon5:c.C640A:p.Q214K exonic ENSG00000158486 NA nonsynonymous SNV ENSG00000158486:ENST00000261383:exon5:c.C640A:p.Q214K,ENSG00000158486:ENST00000415178:exon5:c.C640A:p.Q214K Score=383;Name=lod=48 NA 16p12.3 NA NA NA NA rs72780891 0.16 0.16 0.133 0.170927 0.1869 0.129 0.2954 0.0968 0.2096 0.2 0.11 0.25 0.09 0.2087 0.25 0.97 T 0.147 B 0.061 B 0.481 N 0.982 P 1.32 L 2.21 T -0.978 T 0.000 T 0.172 0.872 8.534 4.1 1.318 0.697 3.879 0.871685 NA 0.66 0.203605 0.120627 ID=COSM1376588,COSM1376589;OCCURENCE=1(large_intestine) 0.159 NA 9.7341284 679 1 152283236 152283236 T C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.A4126G:p.R1376G exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.A4126G:p.R1376G NA NA 1q21.3 NA NA NA NA rs11581433 0.27 0.27 0.226 0.343051 0.171 0.6062 0.4236 0.1218 0.4908 0.15 0.55 0.3 0.1 0.2614 0.55 1 T 0.0 B 0.001 B . . 1.000 P -1.3 N 4.49 T -0.960 T 0.001 T 0.033 0.552 6.987 -4.46 -0.955 -2.374 8.082 0.552125 NA 0.85 0.167054 0.137767 NA 0.152 NA 9.7338794 679 17 56676368 56676368 T C exonic TEX14 NA nonsynonymous SNV TEX14:NM_001201457:exon14:c.A2356G:p.N786D,TEX14:NM_031272:exon14:c.A2338G:p.N780D,TEX14:NM_198393:exon14:c.A2338G:p.N780D exonic ENSG00000121101 NA nonsynonymous SNV ENSG00000121101:ENST00000240361:exon14:c.A2356G:p.N786D,ENSG00000121101:ENST00000349033:exon14:c.A2338G:p.N780D,ENSG00000121101:ENST00000389934:exon14:c.A2338G:p.N780D NA NA 17q22 Score=845;Name=V$OCT1_Q6 NA NA NA rs389389 0.11 0.11 0.105 0.0896565 0.2286 NA 0.1282 0.0356 0.0849 0.21 NA 0.16 0.04 0.1557 0.22 0.33 T 0.0 B 0.003 B 0.285 N 1.000 P 1.78 L -1.13 T -1.095 T 0.000 T 0.028 0.755 8 -3.63 -1.256 -0.600 7.020 0.755293 NA 0 0.215233 0.056741 NA 0.225 NA 9.7338004 679 1 152285930 152285930 G A exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C1432T:p.P478S exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C1432T:p.P478S NA NA 1q21.3 NA NA NA NA rs11584340 0.31 0.31 0.271 0.344649 0.171 0.6062 0.4222 0.1286 0.4908 0.17 0.62 0.35 0.15 0.2613 0.62 1 T 0.02 B 0.034 B . . 1.000 P -1.75 N 5.59 T -0.999 T 0.000 T 0.013 0.046 4.251 -3.12 -1.350 -1.893 3.067 0.045625 NA 1 0.167907 0.139582 NA 0.217 NA 9.7331264 679 10 98380137 98380137 T C exonic PIK3AP1 NA nonsynonymous SNV PIK3AP1:NM_152309:exon12:c.A1913G:p.K638R exonic ENSG00000155629 NA nonsynonymous SNV ENSG00000155629:ENST00000371109:exon5:c.A710G:p.K237R,ENSG00000155629:ENST00000371110:exon11:c.A1379G:p.K460R,ENSG00000155629:ENST00000339364:exon12:c.A1913G:p.K638R Score=557;Name=lod=245 NA 10q24.1 NA NA NA NA rs12784975 0.19 0.19 0.161 0.157348 0.2296 0.0883 0.3516 0.1014 0.092 0.24 0.09 0.31 0.14 0.1786 0.31 0.35 T 0.011 B 0.011 B 0.000 N 0.006 P 1.43 L 0.88 T -0.988 T 0.000 T 0.06 1.969 12.54 3.57 0.495 1.701 9.532 1.968994 1.968994 0.13 0.194884 0.123014 NA 0.21 NA 9.7302494 679 20 34219496 34219496 T C exonic CPNE1 NA nonsynonymous SNV CPNE1:NM_001198863:exon8:c.A632G:p.Q211R,CPNE1:NM_003915:exon8:c.A647G:p.Q216R,CPNE1:NM_152925:exon8:c.A632G:p.Q211R,CPNE1:NM_152926:exon8:c.A632G:p.Q211R,CPNE1:NM_152927:exon9:c.A632G:p.Q211R,CPNE1:NM_152928:exon9:c.A632G:p.Q211R exonic ENSG00000214078 NA nonsynonymous SNV ENSG00000214078:ENST00000412056:exon7:c.A560G:p.Q187R,ENSG00000214078:ENST00000416778:exon7:c.A560G:p.Q187R,ENSG00000214078:ENST00000430570:exon7:c.A560G:p.Q187R,ENSG00000214078:ENST00000317677:exon8:c.A647G:p.Q216R,ENSG00000214078:ENST00000397442:exon8:c.A632G:p.Q211R,ENSG00000214078:ENST00000397443:exon8:c.A632G:p.Q211R,ENSG00000214078:ENST00000401607:exon8:c.A632G:p.Q211R,ENSG00000214078:ENST00000414664:exon8:c.A632G:p.Q211R,ENSG00000214078:ENST00000437340:exon8:c.A632G:p.Q211R,ENSG00000214078:ENST00000439806:exon8:c.A632G:p.Q211R,ENSG00000214078:ENST00000397445:exon9:c.A632G:p.Q211R,ENSG00000214078:ENST00000397446:exon9:c.A632G:p.Q211R,ENSG00000214078:ENST00000317619:exon10:c.A632G:p.Q211R,ENSG00000214078:ENST00000352393:exon10:c.A632G:p.Q211R Score=425;Name=lod=71 NA 20q11.22 NA NA NA NA rs6579255 0.22 0.22 0.231 0.271965 0.1899 0.1359 0.1844 0.4244 0.3528 0.19 0.11 0.22 0.4 0.2229 0.4 0.53 T 0.0 B 0.002 B 0.657 N 1.000 P 0.4 N -0.46 T -0.969 T 0.000 T 0.397 1.613 11.35 4.46 0.812 1.628 6.516 1.612918 1.612918 0.5 0.190581 0.394462 NA 0.268 NA 9.7299524 679 19 7986638 7986638 C G exonic SNAPC2 NA nonsynonymous SNV SNAPC2:NM_003083:exon3:c.C352G:p.L118V exonic ENSG00000104976 NA nonsynonymous SNV ENSG00000104976:ENST00000221573:exon3:c.C352G:p.L118V NA NA 19p13.2 NA Name=USF-1,Pol2 NA NA rs475002 0.45 0.45 0.407 0.41274 0.5467 0.5169 0.4092 0.2156 0.4366 0.54 0.5 0.44 0.24 0.4983 0.56 0.06 T 0.992 D 0.912 D 0.011 N 1.000 P 2.19 M 0.79 T -0.928 T 0.000 T 0.145 2.917 15.72 -0.458 0.200 -0.315 1.330 2.916868 2.916868 0.08 0.5592 0.281888 NA 0.457 NA 9.7291334 679 17 39671724 39671724 T C exonic KRT15 NA nonsynonymous SNV KRT15:NM_002275:exon6:c.A1247G:p.K416R exonic ENSG00000171346 NA nonsynonymous SNV ENSG00000171346:ENST00000393974:exon5:c.A752G:p.K251R,ENSG00000171346:ENST00000393981:exon5:c.A752G:p.K251R,ENSG00000171346:ENST00000254043:exon6:c.A1247G:p.K416R,ENSG00000171346:ENST00000393976:exon8:c.A1247G:p.K416R Score=325;Name=lod=28 NA 17q21.2 Score=857;Name=V$OCT1_05 NA NA NA rs2305556 0.16 0.16 0.153 0.133387 0.2107 0.0565 0.1354 0.2012 0.0399 0.21 0.05 0.16 0.2 0.1695 0.23 . . 0.001 B 0.013 B 0.003 N 0.979 P 0.98 L -0.96 T -1.103 T 0.000 T 0.039 2.777 15.25 2.51 0.356 0.036 1.977 2.776876 2.776876 0.16 0.225581 0.21448 NA 0.109 NA 9.7275524 679 19 5455735 5455735 G A exonic ZNRF4 NA nonsynonymous SNV ZNRF4:NM_181710:exon1:c.G233A:p.R78Q exonic ENSG00000105428 NA nonsynonymous SNV ENSG00000105428:ENST00000222033:exon1:c.G233A:p.R78Q NA NA 19p13.3 NA NA NA NA rs2240744 0.21 0.21 0.202 0.197484 0.2157 0.3958 0.1326 0.0272 0.2505 0.21 0.4 0.15 0.03 0.1987 0.4 0.3 T 0.0 B 0.0 B 0.055 N 1.000 P 0 N 3.66 T -0.918 T 0.000 T 0.026 0.483 6.622 -6.66 -1.706 -2.987 0.592 0.48322 NA 0.35 0.19182 0.052795 NA 0.188 NA 9.7271134 679 2 44099433 44099433 C A exonic ABCG8 NA nonsynonymous SNV ABCG8:NM_022437:exon8:c.C1199A:p.T400K exonic ENSG00000143921 NA nonsynonymous SNV ENSG00000143921:ENST00000272286:exon8:c.C1199A:p.T400K NA NA 2p21 NA NA NA NA rs4148217 0.22 0.22 0.21 0.215655 0.2008 0.1141 0.3228 0.2912 0.1575 0.19 0.1 0.32 0.31 0.2146 0.32 0.31 T 0.059 B 0.046 B 0.012 N 1.000 P 0.49 N -0.43 T -1.030 T 0.000 T 0.196 1.2 9.876 3.93 1.015 1.368 9.954 1.200333 NA 0.42 0.191512 0.27281 ID=COSM1408149;OCCURENCE=1(large_intestine) 0.268 NA 9.7264214 680 17 6515454 6515454 C T exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon8:c.G1330A:p.D444N exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000542606:exon6:c.G433A:p.D145N,ENSG00000198920:ENST00000572370:exon7:c.G433A:p.D145N,ENSG00000198920:ENST00000361413:exon8:c.G1330A:p.D444N NA NA 17p13.1 NA NA Name=6 NA rs2289643 0.54 0.54 0.515 0.536342 0.5149 0.7103 0.621 0.3275 0.6012 0.49 0.68 0.62 0.37 0.5595 0.68 0.41 T 0.025 B 0.005 B 0.200 N 1.000 P 1.61 L 3.04 T -0.948 T 0.000 T 0.025 0.774 8.089 3.36 1.434 1.423 8.274 0.774006 NA 0 0.536874 0.369589 ID=COSM1130191;OCCURENCE=1(prostate) 0.609 NA 9.7220594 680 17 73552185 73552185 G A exonic LLGL2 NA nonsynonymous SNV LLGL2:NM_001015002:exon3:c.G134A:p.R45H,LLGL2:NM_001031803:exon3:c.G134A:p.R45H,LLGL2:NM_004524:exon3:c.G134A:p.R45H exonic ENSG00000073350 NA nonsynonymous SNV ENSG00000073350:ENST00000581713:exon2:c.G134A:p.R45H,ENSG00000073350:ENST00000583658:exon2:c.G137A:p.R46H,ENSG00000073350:ENST00000167462:exon3:c.G134A:p.R45H,ENSG00000073350:ENST00000375227:exon3:c.G134A:p.R45H,ENSG00000073350:ENST00000392550:exon3:c.G134A:p.R45H,ENSG00000073350:ENST00000577200:exon3:c.G134A:p.R45H,ENSG00000073350:ENST00000578536:exon3:c.G134A:p.R45H,ENSG00000073350:ENST00000580578:exon3:c.G134A:p.R45H,ENSG00000073350:ENST00000578363:exon4:c.G134A:p.R45H,ENSG00000073350:ENST00000579392:exon4:c.G134A:p.R45H Score=475;Name=lod=114 NA 17q25.1 NA NA NA NA rs1671036 0.42 0.42 0.393 0.409145 0.5606 0.4683 0.379 0.1165 0.6094 0.57 0.48 0.42 0.12 0.5026 0.57 0.1 T 0.054 B 0.031 B 0.014 N 0.872 P 0.895 L 1.47 T -0.921 T 0.000 T 0.192 0.712 7.793 3.58 1.146 1.330 9.608 0.712073 NA 0.04 0.550349 0.17567 NA 0.478 NA 9.7197844 680 6 32050067 32050067 T C exonic TNXB NA nonsynonymous SNV TNXB:NM_019105:exon9:c.A3482G:p.H1161R exonic ENSG00000168477 NA nonsynonymous SNV ENSG00000168477:ENST00000375244:exon9:c.A3482G:p.H1161R,ENSG00000168477:ENST00000375247:exon9:c.A3482G:p.H1161R Score=309;Name=lod=24 Name=Height 6p21.33 NA NA NA NA rs185819 0.57 0.57 0.575 0.586262 0.5507 0.6399 0.6066 0.4508 0.7362 0.55 0.63 0.61 0.49 0.5767 0.63 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.355 N 0.65 T -0.960 T 0.007 T 0.048 -1.751 0.01 3.96 0.658 1.334 8.740 -1.750763 NA 1 0.486242 0.458367 NA 0.558 NA 9.7196914 680 17 73089706 73089706 G A UTR5 SLC16A5 NM_001271765:c.-26G>A,NM_004695:c.-26G>A NA NA exonic ENSG00000170190 NA nonsynonymous SNV ENSG00000170190:ENST00000538213:exon2:c.G95A:p.R32K,ENSG00000170190:ENST00000584207:exon2:c.G65A:p.R22K NA NA 17q25.1 NA Name=Pol2 NA NA rs4789134 0.24 0.24 0.211 0.239217 0.3748 0.1597 0.2939 0.0461 0.4039 0.38 0.15 0.32 0.07 0.3948 0.38 0.82 T 0.759 P 0.099 B . . 0.000 P . . 3.38 T -0.988 T 0.000 T 0.146 2.982 15.94 2.85 1.929 2.671 11.918 2.982455 2.982455 0 0.344473 0.089767 NA 0.196 NA 9.7192604 680 19 11558275 11558275 G A exonic PRKCSH NA nonsynonymous SNV PRKCSH:NM_001001329:exon11:c.G871A:p.A291T,PRKCSH:NM_002743:exon11:c.G871A:p.A291T exonic ENSG00000130175 NA nonsynonymous SNV ENSG00000130175:ENST00000587327:exon10:c.G871A:p.A291T,ENSG00000130175:ENST00000589838:exon10:c.G871A:p.A291T,ENSG00000130175:ENST00000252455:exon11:c.G871A:p.A291T,ENSG00000130175:ENST00000412601:exon11:c.G871A:p.A291T,ENSG00000130175:ENST00000592741:exon11:c.G871A:p.A291T,ENSG00000130175:ENST00000591462:exon12:c.G871A:p.A291T NA NA 19p13.2 NA Name=ZNF263 NA NA rs11557488 0.12 0.12 0.097 0.091254 0.2256 0.0248 0.1182 0.0265 0.09 0.25 0.03 0.13 0.03 0.1733 0.25 0.62 T 0.22 B 0.036 B 0.765 N 1.000 P 1.245 L -0.65 T -1.093 T 0.000 T 0.058 1.868 12.2 1.41 0.480 1.332 7.787 1.867674 1.867674 0.49 0.215698 0.059237 NA 0.116 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080027.1;CLNDSDB=.;CLNDSDBID=. 9.7187354 680 6 69666684 69666684 A G exonic BAI3 NA nonsynonymous SNV BAI3:NM_001704:exon8:c.A1508G:p.N503S exonic ENSG00000135298 NA nonsynonymous SNV ENSG00000135298:ENST00000370598:exon8:c.A1508G:p.N503S Score=508;Name=lod=155 NA 6q12 Score=831;Name=V$OCT1_02 NA NA NA rs1932618 0.89 0.89 0.89 0.905351 0.8569 0.9226 0.8977 0.9062 0.9417 0.85 0.92 0.89 0.9 0.8942 0.94 1 T 0.0 B 0.005 B 0.000 N 0.000 P 1.37 L 0.67 T -1.071 T 0.038 T 0.053 0.209 5.125 5.19 1.347 6.443 10.524 0.20865 NA 1 0.864535 0.918293 NA 0.906 NA 9.7176984 680 6 32610495 32610495 A G exonic HLA-DQA1 NA nonsynonymous SNV HLA-DQA1:NM_002122:exon4:c.A722G:p.Q241R exonic ENSG00000196735 NA nonsynonymous SNV ENSG00000196735:ENST00000343139:exon4:c.A722G:p.Q241R,ENSG00000196735:ENST00000374949:exon4:c.A722G:p.Q241R,ENSG00000196735:ENST00000395363:exon4:c.A722G:p.Q241R NA NA 6p21.32 Score=717;Name=V$HOX13_01 Name=Pol2-4H8 NA NA rs9272793 NA NA 0.357 0.549321 0.5944 0.5407 0.696 0.4992 0.4755 NA NA NA NA 0.5736 0.45 0.8 T 0.0 B 0.002 B 0.388 N 1.000 P -0.975 N 4.73 T -0.961 T 0.001 T 0.144 -3.04 0.001 -8.17 -3.647 -0.307 18.146 -3.039841 NA 0.6 0.447874 0.383698 NA 0.051 NA 9.7174594 680 1 21795288 21795288 C T exonic NBPF3 NA nonsynonymous SNV NBPF3:NM_001256416:exon3:c.C241T:p.R81C,NBPF3:NM_032264:exon3:c.C241T:p.R81C exonic ENSG00000142794 NA nonsynonymous SNV ENSG00000142794:ENST00000318249:exon3:c.C241T:p.R81C,ENSG00000142794:ENST00000342104:exon3:c.C241T:p.R81C,ENSG00000142794:ENST00000318220:exon6:c.C73T:p.R25C,ENSG00000142794:ENST00000434838:exon7:c.C73T:p.R25C NA NA 1p36.12 NA Name=CTCFL_(SC-98982),SMC3_(ab9263),CTCF_(SC-5916),CTCF_(C-20),Rad21,ELF1_(SC-631),FOXA2_(SC-6554),CTCF Name=62 NA rs61740199 0.02 0.02 0.018 0.0155751 0.0368 NA 0.0216 0.0023 0.0235 0.04 NA 0.03 0.002 0.0341 0.047 0.17 T 0.796 P 0.171 B . . 1.000 N 1.735 L 3.97 T -0.972 T 0.002 T 0.443 0.357 5.939 -0.961 -0.346 -0.126 3.918 0.357252 NA 0.05 0.047326 0.005901 NA 0.029 NA 9.7151074 681 3 52430526 52430526 G A exonic DNAH1 NA nonsynonymous SNV DNAH1:NM_015512:exon71:c.G11402A:p.G3801D exonic ENSG00000114841 NA nonsynonymous SNV ENSG00000114841:ENST00000490713:exon14:c.G2102A:p.G701D,ENSG00000114841:ENST00000420323:exon71:c.G11402A:p.G3801D NA NA 3p21.1 NA NA NA NA rs12163565 0.17 0.17 0.119 0.165935 0.1978 0.2927 0.1239 0.0219 0.227 0.2 0.25 0.14 0.03 0.2325 0.25 1 T 0.0 B 0.003 B 0.023 N 1.000 P -1.34 N 3.2 T -0.915 T 0.000 T 0.163 -2.059 0.006 2.35 1.034 1.873 10.132 -2.059211 NA 0.67 0.189078 0.047765 ID=COSM1566694,COSM1566695;OCCURENCE=1(large_intestine) 0.203 NA 9.7139554 681 14 59113430 59113430 G A exonic DACT1 NA nonsynonymous SNV DACT1:NM_001079520:exon4:c.G1978A:p.G660S,DACT1:NM_016651:exon4:c.G2089A:p.G697S exonic ENSG00000165617 NA nonsynonymous SNV ENSG00000165617:ENST00000335867:exon4:c.G2089A:p.G697S,ENSG00000165617:ENST00000395151:exon4:c.G1246A:p.G416S,ENSG00000165617:ENST00000395153:exon4:c.G1978A:p.G660S,ENSG00000165617:ENST00000541264:exon4:c.G1246A:p.G416S,ENSG00000165617:ENST00000556859:exon4:c.G1246A:p.G416S NA NA 14q23.1 NA Name=E2F6 Name=5 NA rs698025 0.25 0.25 0.279 0.270168 0.1958 0.1508 0.3343 0.4281 0.2106 0.19 0.14 0.32 0.42 0.2325 0.42 0.68 T 0.002 B 0.001 B 0.295 N 1.000 P 1.24 L 0.99 T -0.961 T 0.000 T 0.044 -0.971 0.306 0.845 -0.056 1.550 0.797 -0.970599 NA 0.34 0.191286 0.357727 NA 0.225 NA 9.7137474 681 17 7579472 7579472 G C exonic TP53 NA nonsynonymous SNV TP53:NM_001126118:exon3:c.C98G:p.P33R,TP53:NM_000546:exon4:c.C215G:p.P72R,TP53:NM_001126112:exon4:c.C215G:p.P72R,TP53:NM_001126113:exon4:c.C215G:p.P72R,TP53:NM_001126114:exon4:c.C215G:p.P72R,TP53:NM_001276695:exon4:c.C98G:p.P33R,TP53:NM_001276696:exon4:c.C98G:p.P33R,TP53:NM_001276760:exon4:c.C98G:p.P33R,TP53:NM_001276761:exon4:c.C98G:p.P33R exonic ENSG00000141510 NA nonsynonymous SNV ENSG00000141510:ENST00000359597:exon3:c.C215G:p.P72R,ENSG00000141510:ENST00000413465:exon3:c.C215G:p.P72R,ENSG00000141510:ENST00000269305:exon4:c.C215G:p.P72R,ENSG00000141510:ENST00000420246:exon4:c.C215G:p.P72R,ENSG00000141510:ENST00000445888:exon4:c.C215G:p.P72R,ENSG00000141510:ENST00000455263:exon4:c.C215G:p.P72R,ENSG00000141510:ENST00000508793:exon4:c.C215G:p.P72R,ENSG00000141510:ENST00000604348:exon4:c.C215G:p.P72R,ENSG00000141510:ENST00000503591:exon5:c.C215G:p.P72R NA NA 17p13.1 NA NA NA NA rs1042522 0.6 0.6 0.515 0.542931 0.7147 0.5863 0.683 0.3313 0.5082 0.72 0.61 0.72 0.33 0.66 0.75 0.17 T 0.745 P 0.372 B 0.371 U 1.000 P 0 N -2.05 D -0.929 T 0.000 T 0.267 0.823 8.316 1.87 1.355 1.015 9.773 0.823228 NA 0.26 0.745233 0.405086 NA 0.572 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=CODON_72_POLYMORPHISM\x2c_(rs1042522)|not_provided|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=single|single|single|single;CLNACC=RCV000013144.1|RCV000034639.1|RCV000079202.2|RCV000132165.1;CLNDSDB=.|.|.|MedGen;CLNDSDBID=.|.|.|C0027672 9.7134004 681 9 37729786 37729786 C T exonic FRMPD1 NA nonsynonymous SNV FRMPD1:NM_014907:exon8:c.C674T:p.A225V exonic ENSG00000070601 NA nonsynonymous SNV ENSG00000070601:ENST00000541302:exon4:c.C281T:p.A94V,ENSG00000070601:ENST00000536622:exon5:c.C140T:p.A47V,ENSG00000070601:ENST00000377765:exon8:c.C674T:p.A225V,ENSG00000070601:ENST00000539465:exon8:c.C674T:p.A225V Score=566;Name=lod=266 NA 9p13.2 Score=810;Name=V$HNF4_01 Name=CEBPB,ZNF263 NA NA rs1359590 0.2 0.2 0.21 0.208067 0.2137 0.1855 0.1311 0.2224 0.2607 0.21 0.15 0.15 0.27 0.2011 0.27 1 T 0.004 B 0.007 B 0.012 N 0.000 P -1.07 N -0.69 T -1.042 T 0.000 T 0.181 0.334 5.809 0.349 0.009 0.034 8.806 0.333501 NA 0.84 0.205581 0.19655 NA 0.225 NA 9.7129524 681 6 165713961 165713961 A C exonic C6orf118 NA nonsynonymous SNV C6orf118:NM_144980:exon3:c.T768G:p.I256M exonic ENSG00000112539 NA nonsynonymous SNV ENSG00000112539:ENST00000230301:exon3:c.T768G:p.I256M,ENSG00000112539:ENST00000543069:exon3:c.T456G:p.I152M NA NA 6q27 NA NA NA NA rs510579 0.46 0.46 0.478 0.483626 0.3757 0.2073 0.4395 0.8207 0.455 0.39 0.23 0.42 0.84 0.3962 0.84 0.18 T 0.993 D 0.878 P 0.648 N 1.000 P 1.5 L 2.48 T -1.055 T 0.018 T 0.082 0.061 4.334 -10.0 -3.147 -2.096 7.846 0.06136 NA 0.25 0.348721 0.746709 NA 0.464 NA 9.7127124 681 19 35506729 35506729 G A exonic GRAMD1A NA synonymous SNV GRAMD1A:NM_001136199:exon10:c.G1050A:p.A350A,GRAMD1A:NM_020895:exon11:c.G1071A:p.A357A exonic ENSG00000089351 NA synonymous SNV ENSG00000089351:ENST00000411896:exon10:c.G1050A:p.A350A,ENSG00000089351:ENST00000504615:exon10:c.G369A:p.A123A,ENSG00000089351:ENST00000317991:exon11:c.G1071A:p.A357A,ENSG00000089351:ENST00000599564:exon12:c.G1332A:p.A444A NA NA 19q13.12 NA Name=c-Myc,Pol2 Name=37 NA rs2290647 0.28 0.28 0.299 0.255391 0.3419 0.2183 0.3055 0.2723 0.1462 0.34 0.21 0.32 0.26 0.2897 0.34 . . . . . . . . 0.000 P . . . . . . . . . 0.403 6.19 -8.37 -1.894 -0.462 3.662 0.403188 NA NA 0.322611 0.267681 NA 0.196 NA 9.7124556 681 3 125826059 125826059 T C exonic ALDH1L1 NA nonsynonymous SNV ALDH1L1:NM_001270365:exon19:c.A2075G:p.D692G,ALDH1L1:NM_001270364:exon21:c.A2408G:p.D803G,ALDH1L1:NM_012190:exon21:c.A2378G:p.D793G exonic ENSG00000144908 NA nonsynonymous SNV ENSG00000144908:ENST00000452905:exon19:c.A2075G:p.D692G,ENSG00000144908:ENST00000273450:exon21:c.A2408G:p.D803G,ENSG00000144908:ENST00000393434:exon21:c.A2378G:p.D793G,ENSG00000144908:ENST00000472186:exon21:c.A2378G:p.D793G NA NA 3q21.3 NA NA NA NA rs1127717 0.19 0.19 0.18 0.198083 0.2167 0.126 0.1571 0.2284 0.2413 0.21 0.12 0.19 0.23 0.1886 0.23 0.1 T 0.03 B 0.131 B 0.012 N 0.000 P 0.745 N -1.01 T -1.056 T 0.000 T 0.212 1.342 10.41 3.98 1.677 3.804 10.872 1.342416 1.342416 0.06 0.215698 0.213345 NA 0.181 NA 9.7123354 681 6 31379807 31379807 C T exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon4:c.C697T:p.R233W,MICA:NM_001177519:exon4:c.C697T:p.R233W exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon3:c.C370T:p.R124W,ENSG00000204520:ENST00000449934:exon4:c.C697T:p.R233W NA NA 6p21.33 NA NA NA NA rs1051798 0.32 0.32 0.176 0.364018 0.3141 0.2996 0.4063 0.4773 0.2986 0.27 0.24 0.41 0.41 0.3079 0.41 0.17 T 0.027 B 0.004 B 0.358 N 1.000 P . . 2.46 T -1.004 T 0.007 T 0.18 -0.147 3.279 -5.05 -2.258 -9.749 1.846 -0.147379 NA 0.07 NA NA NA 0.341 NA 9.7113334 681 3 97868419 97868419 G A exonic OR5H14 NA nonsynonymous SNV OR5H14:NM_001005514:exon1:c.G190A:p.G64R exonic ENSG00000236032 NA nonsynonymous SNV ENSG00000236032:ENST00000437310:exon1:c.G190A:p.G64R NA NA 3q11.2 NA NA NA NA rs4241468 0.58 0.58 0.576 0.57528 0.5298 0.5228 0.5634 0.6672 0.5603 0.54 0.58 0.52 0.7 0.5551 0.7 0.04 D 0.983 D 0.933 D 0.017 N 1.000 P 0.95 L 3.63 T -1.058 T 0.000 T 0.262 1.958 12.5 1.57 1.380 -0.422 3.319 1.957996 1.957996 0 0.539651 0.673627 NA 0.514 NA 9.7087824 681 19 10079093 10079093 C T exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon59:c.G4282A:p.V1428M exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon59:c.G4282A:p.V1428M Score=371;Name=lod=43 NA 19p13.2 Score=877;Name=V$RFX1_01 NA NA NA rs3815746 0.21 0.21 0.22 0.179712 0.2048 0.2222 0.1383 0.1838 0.1339 0.21 0.25 0.16 0.21 0.1989 0.26 0.24 T 0.015 B 0.004 B 0.005 N 0.997 P 0.405 N -3.25 D -1.061 T 0.000 T 0.044 0.275 5.488 1.72 0.861 -0.266 6.160 0.275036 NA 0.08 0.222907 0.190649 NA 0.203 NA 9.7067264 682 7 76029695 76029695 C T exonic SRCRB4D NA nonsynonymous SNV SRCRB4D:NM_080744:exon4:c.G383A:p.R128H exonic ENSG00000146700 NA nonsynonymous SNV ENSG00000146700:ENST00000275560:exon4:c.G383A:p.R128H Score=513;Name=lod=162 NA 7q11.23 Score=980;Name=V$AP2GAMMA_01 NA NA NA rs4728712 0.17 0.17 0.15 0.189097 0.2048 0.2421 0.255 0.0454 0.2658 0.21 0.21 0.23 0.04 0.2209 0.23 0.49 T 0.003 B 0.004 B 0.021 N 0.433 P 1.095 L 0.92 T -1.021 T 0.000 T 0.052 2.385 13.93 2.55 0.748 -0.167 4.075 2.385104 2.385104 0.18 0.203699 0.085565 ID=COSM1452110;OCCURENCE=1(large_intestine) 0.094 NA 9.7039344 682 X 215944 215944 G T exonic PLCXD1 NA nonsynonymous SNV PLCXD1:NM_018390:exon7:c.G914T:p.G305V exonic ENSG00000182378 NA nonsynonymous SNV ENSG00000182378:ENST00000381657:exon7:c.G914T:p.G305V,ENSG00000182378:ENST00000381663:exon7:c.G914T:p.G305V,ENSG00000182378:ENST00000399012:exon8:c.G914T:p.G305V NA NA Xp22.33 NA Name=Pol2 NA NA rs112920828 0.04 0.04 0.0442 NA NA NA NA NA NA 0.07 NA 0.06 0.03 0.0588 0.074 0.2 T 0.969 D 0.711 P 0.075 N 1.000 N . . . . -1.144 T 0.013 T 0.204 0.815 8.276 1.77 0.932 0.021 10.279 0.814518 NA 0.01 0.073673 0.041988 NA 0.007 NA 9.7008604 682 1 144922523 144922523 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon3:c.G1373A:p.R458H,PDE4DIP:NM_001002812:exon7:c.G884A:p.R295H,PDE4DIP:NM_001198834:exon7:c.G884A:p.R295H,PDE4DIP:NM_014644:exon7:c.G884A:p.R295H,PDE4DIP:NM_001198832:exon10:c.G1082A:p.R361H exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon3:c.G1373A:p.R458H,ENSG00000178104:ENST00000479408:exon3:c.G245A:p.R82H,ENSG00000178104:ENST00000529945:exon3:c.G1373A:p.R458H,ENSG00000178104:ENST00000369349:exon7:c.G884A:p.R295H,ENSG00000178104:ENST00000369351:exon7:c.G884A:p.R295H,ENSG00000178104:ENST00000369354:exon7:c.G884A:p.R295H,ENSG00000178104:ENST00000369356:exon7:c.G884A:p.R295H,ENSG00000178104:ENST00000313382:exon10:c.G1082A:p.R361H,ENSG00000178104:ENST00000369359:exon10:c.G1295A:p.R432H,ENSG00000178104:ENST00000530740:exon10:c.G1295A:p.R432H Score=517;Name=lod=169 NA 1q21.1 NA NA NA NA rs2455994 0.26 0.26 0.22 NA NA NA NA NA NA 0.35 0.04 0.26 0.38 0.2909 0.38 0.16 T 0.069 B 0.022 B . . 1.000 D 0.345 N 4.82 T -0.962 T 0.008 T 0.108 2.8 15.33 2.07 0.129 0.055 8.982 2.800371 2.800371 0.11 0.343532 0.341807 NA 0.188 NA 9.6989014 682 8 110448635 110448635 A G exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon30:c.A3574G:p.T1192A exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon30:c.A3574G:p.T1192A Score=433;Name=lod=77 NA 8q23.1 NA NA NA NA rs10093885 0.17 0.17 0.185 0.21865 0.2058 0.002 0.1542 0.3502 0.3231 0.2 0.0017 0.19 0.29 0.2146 0.31 0.79 T 0.009 B 0.022 B 0.551 N 1.000 P 1.13 L -0.92 T -1.070 T 0.000 T 0.121 0.399 6.168 2.94 0.314 1.811 8.051 0.399236 NA 0.16 0.214129 0.312601 NA 0.283 NA 9.6988044 682 1 152279841 152279841 G C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C7521G:p.H2507Q exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C7521G:p.H2507Q NA NA 1q21.3 NA NA NA NA rs3126074 0.4 0.4 0.338 0.46226 0.172 0.6548 0.451 0.5189 0.4939 0.17 0.63 0.38 0.49 0.2943 0.63 0.64 T 0.0 B 0.0 B . . 1.000 P -1.59 N 3.73 T -0.937 T 0.001 T 0.022 -0.408 2.091 -4.87 -1.444 -7.955 8.373 -0.40831 NA 0.47 0.169302 0.465956 NA 0.29 NA 9.6977314 682 6 112671611 112671611 G A exonic RFPL4B NA nonsynonymous SNV RFPL4B:NM_001013734:exon3:c.G701A:p.G234D exonic ENSG00000251258 NA nonsynonymous SNV ENSG00000251258:ENST00000441065:exon3:c.G701A:p.G234D NA NA 6q21 NA NA NA NA rs11153361 0.15 0.15 0.171 0.163339 0.2286 0.0367 0.134 0.2141 0.1789 0.22 0.04 0.16 0.19 0.1898 0.22 0.62 T 0.0 B 0.001 B 0.000 N 1.000 P 0.475 N -0.2 T -1.045 T 0.030 T 0.085 -0.958 0.329 -7.84 -3.102 -1.890 2.054 -0.957504 NA NA 0.217209 0.221516 NA 0.225 NA 9.6977244 682 1 152286002 152286002 T C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.A1360G:p.T454A exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.A1360G:p.T454A NA NA 1q21.3 NA NA NA NA rs2011331 0.4 0.4 0.385 0.464058 0.173 0.6587 0.4539 0.5204 0.4939 0.18 0.63 0.38 0.49 0.2949 0.63 0.96 T 0.04 B 0.006 B . . 1.000 P -0.09 N 4.4 T -0.902 T 0.001 T 0.012 -0.076 3.629 -6.86 -3.086 -2.855 0.086 -0.075933 NA 0.03 0.169884 0.46709 NA 0.29 NA 9.6955494 682 19 8188812 8188812 C T exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon22:c.G2812A:p.V938I exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon22:c.G2812A:p.V938I,ENSG00000142449:ENST00000600128:exon23:c.G2812A:p.V938I,ENSG00000142449:ENST00000601739:exon23:c.G2812A:p.V938I Score=541;Name=lod=210 NA 19p13.2 NA NA NA NA rs35840170 0.1 0.1 0.06 0.0834665 0.0358 0.1974 0.1988 0.0083 0.0348 0.04 0.23 0.14 0.01 0.0647 0.23 0.35 T 0.646 P 0.146 B 0.002 U 0.999 P 0.68 N -3.03 D -1.040 T 0.000 T 0.033 1.565 11.19 -0.095 0.131 -0.124 3.908 1.565162 1.565162 0.55 0.037791 0.014526 NA 0.043 NA 9.6950424 683 14 51368610 51368610 A G exonic ABHD12B NA nonsynonymous SNV ABHD12B:NM_181814:exon8:c.A613G:p.I205V,ABHD12B:NM_001206673:exon10:c.A844G:p.I282V exonic ENSG00000131969 NA nonsynonymous SNV ENSG00000131969:ENST00000353130:exon8:c.A613G:p.I205V,ENSG00000131969:ENST00000395752:exon9:c.A523G:p.I175V,ENSG00000131969:ENST00000337334:exon10:c.A844G:p.I282V Score=473;Name=lod=112 NA 14q22.1 Score=772;Name=V$EVI1_01 NA NA NA rs28564871 0.3 0.3 0.273 0.283746 0.2028 0.4573 0.3876 0.1649 0.2751 0.21 0.47 0.38 0.18 0.2462 0.47 0.71 T 0.0 B 0.001 B 0.080 N 0.000 P 0.175 N 2.27 T -0.910 T 0.000 T 0.046 0.493 6.676 3.35 0.401 0.331 5.205 0.49334 NA 0.47 0.190526 0.152746 ID=COSM33040;OCCURENCE=1(breast) 0.188 NA 9.6938074 683 1 51826921 51826921 T C exonic EPS15 NA nonsynonymous SNV EPS15:NM_001159969:exon12:c.A1524G:p.I508M,EPS15:NM_001981:exon24:c.A2466G:p.I822M exonic ENSG00000085832 NA nonsynonymous SNV ENSG00000085832:ENST00000396122:exon13:c.A1497G:p.I499M,ENSG00000085832:ENST00000371730:exon22:c.A2064G:p.I688M,ENSG00000085832:ENST00000371733:exon24:c.A2466G:p.I822M Score=643;Name=lod=549 NA 1p32.3 NA NA NA NA rs17567 0.23 0.23 0.266 0.233427 0.2038 0.0119 0.1643 0.5673 0.09 0.21 0.02 0.16 0.58 0.2065 0.58 0.25 T 0.001 B 0.001 B . . 0.000 P -0.69 N 0.98 T -0.947 T 0.000 T 0.053 1.631 11.41 5.85 1.492 0.672 8.804 1.631297 1.631297 0.06 0.230465 0.514299 NA 0.355 NA 9.6925684 683 1 150199123 150199123 G T exonic ANP32E NA synonymous SNV ANP32E:NM_001136478:exon4:c.C375A:p.G125G,ANP32E:NM_001136479:exon5:c.C354A:p.G118G,ANP32E:NM_030920:exon5:c.C498A:p.G166G exonic ENSG00000143401 NA nonsynonymous SNV ENSG00000143401:ENST00000533654:exon4:c.C332A:p.A111E Score=409;Name=lod=61 NA 1q21.2 Score=883;Name=V$YY1_01 NA Name=2 NA rs7522034 0.56 0.56 0.586 0.602037 0.4304 0.5456 0.4683 0.9228 0.498 0.44 0.5 0.43 0.9 0.4619 0.9 0.55 T 0.0 B 0.0 B . . 0.000 P . . 8.07 T -1.083 T 0.000 T . -1.417 0.022 -3.24 -0.475 0.015 1.400 -1.416738 NA 0.95 0.416047 0.821834 ID=COSM1179736;OCCURENCE=1(prostate) 0.587 NA 9.691653 683 9 125316350 125316350 C T exonic OR1N2 NA nonsynonymous SNV OR1N2:NM_001004457:exon1:c.C902T:p.T301M exonic ENSG00000171501 NA nonsynonymous SNV ENSG00000171501:ENST00000373688:exon1:c.C902T:p.T301M Score=321;Name=lod=27 NA 9q33.2 Score=871;Name=V$IK1_01 NA NA NA rs1411272 0.58 0.58 0.56 0.591653 0.5457 0.6667 0.5994 0.6362 0.4959 0.54 0.62 0.59 0.59 0.5622 0.64 1 T 0.003 B 0.001 B 0.000 N 1.000 P -0.85 N 1.26 T -0.928 T 0.000 T 0.072 -0.755 0.802 4.56 0.800 3.075 9.473 -0.755023 NA 1 0.534535 0.621652 ID=COSM150701;OCCURENCE=1(stomach) 0.558 NA 9.6908984 683 11 124180082 124180082 A G exonic OR8D1 NA nonsynonymous SNV OR8D1:NM_001002917:exon1:c.T581C:p.L194P exonic ENSG00000196341 NA nonsynonymous SNV ENSG00000196341:ENST00000357821:exon1:c.T581C:p.L194P NA NA 11q24.2 Score=901;Name=V$OCT1_06 NA NA NA rs4936919 0.34 0.34 0.3 0.286542 0.4066 0.4206 0.3458 0.1543 0.1616 0.39 0.43 0.37 0.13 0.3452 0.43 0 D 0.961 D 0.866 P 0.097 U 1.000 P 1.71 L 8.4 T -0.986 T 0.000 T 0.25 1.897 12.3 1.92 0.208 0.080 2.616 1.897451 1.897451 0 0.391137 0.199091 NA 0.203 NA 9.6903964 683 1 206669465 206669465 C T exonic IKBKE NA nonsynonymous SNV IKBKE:NM_001193321:exon21:c.C1883T:p.P628L,IKBKE:NM_014002:exon22:c.C2138T:p.P713L exonic ENSG00000143466 NA nonsynonymous SNV ENSG00000143466:ENST00000537984:exon21:c.C1883T:p.P628L,ENSG00000143466:ENST00000367120:exon22:c.C2138T:p.P713L NA NA 1q32.1 NA NA NA NA rs3748022 0.19 0.19 0.154 0.148163 0.2326 0.1935 0.3256 0.0182 0.0644 0.24 0.19 0.29 0.03 0.193 0.29 0.2 T 0.03 B 0.022 B 0.867 N 1.000 P 0.345 N 0.16 T -1.059 T 0.000 T 0.099 2.281 13.59 3.45 1.401 1.861 8.691 2.281232 2.281232 0.21 0.21814 0.044258 ID=COSM1178403;OCCURENCE=1(prostate) 0.159 NA 9.6895934 683 19 14975427 14975427 A G intergenic OR7A10,OR7A17 dist=22738;dist=15811 NA NA ncRNA_exonic ENSG00000172148 NA NA NA Score=284;Name=lod=19 NA 19p13.12 NA NA NA NA rs10416150 0.16 0.16 0.154 0.140375 0.175 0.1488 0.121 0.1785 0.0583 0.18 0.12 0.11 0.2 0.1357 0.24 0.03 D . . . . 0.000 U 0.999 N . . . . -1.080 T 0.000 T . 0.228 5.229 2.29 1.076 1.242 8.102 0.227774 NA 0.01 NA NA NA 0.225 NA 9.6893 683 11 119043656 119043656 C T exonic NLRX1 NA nonsynonymous SNV NLRX1:NM_024618:exon4:c.C187T:p.P63S,NLRX1:NM_170722:exon4:c.C187T:p.P63S exonic ENSG00000160703 NA nonsynonymous SNV ENSG00000160703:ENST00000525863:exon3:c.C187T:p.P63S,ENSG00000160703:ENST00000292199:exon4:c.C187T:p.P63S,ENSG00000160703:ENST00000409109:exon4:c.C187T:p.P63S,ENSG00000160703:ENST00000409265:exon4:c.C187T:p.P63S,ENSG00000160703:ENST00000409991:exon4:c.C187T:p.P63S,ENSG00000160703:ENST00000422249:exon4:c.C187T:p.P63S,ENSG00000160703:ENST00000449394:exon4:c.C187T:p.P63S,ENSG00000160703:ENST00000454811:exon4:c.C187T:p.P63S NA NA 11q23.3 Score=906;Name=V$PAX4_03 NA NA NA rs643423 0.64 0.64 0.641 0.682308 0.5497 0.8829 0.402 0.6936 0.7955 0.54 0.87 0.45 0.65 0.5742 0.87 0.92 T 0.005 B 0.002 B 0.777 N 1.000 P -0.145 N 1.67 T -0.992 T 0.000 T 0.269 -1.288 0.04 -4.75 -1.172 -2.208 11.945 -1.28751 NA 0.84 0.522352 0.650682 NA 0.754 NA 9.6870814 684 11 107917087 107917087 A G exonic CUL5 NA synonymous SNV CUL5:NM_003478:exon3:c.A225G:p.Q75Q exonic ENSG00000166266 NA synonymous SNV ENSG00000166266:ENST00000393094:exon3:c.A225G:p.Q75Q,ENSG00000166266:ENST00000531427:exon3:c.A225G:p.Q75Q Score=677;Name=lod=751 NA 11q22.3 Score=892;Name=V$CEBP_Q2 NA NA NA rs7117111 0.67 0.67 0.638 0.662141 0.6561 0.9038 0.745 0.3691 0.7566 0.65 0.91 0.71 0.4 0.6693 0.91 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . 1.042 9.257 5.81 2.210 4.341 11.997 1.042218 NA NA 0.658795 0.396184 NA 0.601 NA 9.6824716 684 2 73868328 73868328 A G exonic NAT8 NA nonsynonymous SNV NAT8:NM_003960:exon2:c.T428C:p.F143S exonic ENSG00000144035 NA nonsynonymous SNV ENSG00000144035:ENST00000272425:exon2:c.T428C:p.F143S NA Name=Chronic kidney disease 2p13.1 NA NA NA NA rs13538 0.25 0.25 0.27 0.269569 0.2097 0.005 0.2622 0.6172 0.1391 0.21 0.01 0.22 0.61 0.2186 0.61 0.74 T 0.0 B 0.0 B 0.161 N 1.000 P -0.455 N 1.95 T -1.012 T 0.000 T 0.065 -1.772 0.01 -7.73 -2.616 0.187 3.591 -1.771572 NA 1 0.222907 0.526782 NA 0.312 NA 9.6821264 684 19 39994711 39994711 T C exonic DLL3 NA nonsynonymous SNV DLL3:NM_016941:exon5:c.T653C:p.L218P,DLL3:NM_203486:exon5:c.T653C:p.L218P exonic ENSG00000090932 NA nonsynonymous SNV ENSG00000090932:ENST00000205143:exon5:c.T653C:p.L218P,ENSG00000090932:ENST00000356433:exon5:c.T653C:p.L218P Score=251;Name=lod=14 NA 19q13.2 NA NA NA NA rs1110627 0.59 0.59 0.587 0.629992 0.5596 0.6111 0.5231 0.7511 0.6339 0.56 0.55 0.53 0.75 0.5686 0.75 . . 0.0 B 0.0 B 0.172 N 0.499 P -2.41 N -2.41 D -0.971 T 0.000 T 0.111 -0.598 1.326 0.831 0.021 1.879 8.004 -0.597997 NA 0.33 0.523605 0.719927 NA 0.514 CLINSIG=non-pathogenic;CLNDBN=Jarcho-Levin_syndrome;CLNREVSTAT=single;CLNACC=RCV000034281.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK8828:C0265343:277300:ORPHA2311:61367005 9.6815284 684 6 167796319 167796319 T C exonic TCP10 NA nonsynonymous SNV TCP10:NM_004610:exon2:c.A43G:p.S15G exonic ENSG00000203690 NA nonsynonymous SNV ENSG00000203690:ENST00000485157:exon1:c.A43G:p.S15G,ENSG00000203690:ENST00000366827:exon2:c.A43G:p.S15G,ENSG00000203690:ENST00000397829:exon2:c.A43G:p.S15G,ENSG00000203690:ENST00000476779:exon3:c.A43G:p.S15G NA NA 6q27 NA NA NA NA rs17855833 0.25 0.25 0.186 0.236422 0.1958 0.3839 0.2579 0.1747 0.1943 0.19 0.4 0.23 0.19 0.2459 0.4 0.64 T 0.0 B 0.0 B . . 1.000 P -0.2 N 2.02 T -0.956 T 0.005 T 0.122 -1.838 0.009 -4.04 -2.017 -2.516 4.184 -1.838222 NA 0.55 0.210883 0.215473 NA 0.174 NA 9.6807504 684 17 8701423 8701423 A G exonic MFSD6L NA nonsynonymous SNV MFSD6L:NM_152599:exon1:c.T1016C:p.I339T exonic ENSG00000185156 NA nonsynonymous SNV ENSG00000185156:ENST00000329805:exon1:c.T1016C:p.I339T NA NA 17p13.1 Score=804;Name=V$IRF7_01 Name=Pol2-4H8 NA NA rs34184531 0.18 0.18 0.176 0.17472 0.2316 0.13 0.1499 0.1384 0.229 0.24 0.12 0.17 0.18 0.1935 0.24 0.55 T 0.01 B 0.012 B 0.941 N 1.000 P -0.205 N -2.47 D -1.137 T 0.000 T 0.026 -0.903 0.432 -0.563 -0.300 0.331 10.368 -0.902668 NA 0.31 0.228721 0.15025 NA 0.181 NA 9.6795124 684 2 241621866 241621866 C T exonic AQP12B NA nonsynonymous SNV AQP12B:NM_001102467:exon1:c.G389A:p.R130H exonic ENSG00000185176 NA nonsynonymous SNV ENSG00000185176:ENST00000407834:exon1:c.G389A:p.R130H NA NA 2q37.3 Score=761;Name=V$TCF11MAFG_01 NA NA NA rs62187796 0.11 0.11 0.11 0.0932508 0.2296 0.003 0.0994 0.0265 0.1319 0.23 0.01 0.11 0.05 0.196 0.23 0.13 T 0.001 B 0.002 B 0.606 N 1.000 P 1.085 L 2.4 T -0.971 T 0.000 T 0.047 -0.382 2.205 -2.13 -0.508 -1.901 8.346 -0.382095 NA 0.1 0.230886 0.072308 NA 0.022 NA 9.6768474 685 2 42515388 42515388 A G exonic EML4 NA nonsynonymous SNV EML4:NM_001145076:exon10:c.A970G:p.I324V,EML4:NM_019063:exon11:c.A1144G:p.I382V exonic ENSG00000143924 NA nonsynonymous SNV ENSG00000143924:ENST00000402711:exon10:c.A970G:p.I324V,ENSG00000143924:ENST00000318522:exon11:c.A1144G:p.I382V,ENSG00000143924:ENST00000401738:exon12:c.A1177G:p.I393V Score=499;Name=lod=142 NA 2p21 Score=821;Name=V$BRN2_01 NA NA NA rs10202624 0.85 0.85 0.885 0.853634 0.8986 0.8036 0.6369 0.9705 0.8548 0.9 0.8 0.69 0.98 0.8564 0.98 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.59 N 0.76 T -0.938 T 0.000 T 0.16 1.182 9.806 5.67 1.409 8.008 14.879 1.181731 NA 0.85 0.903466 0.944394 NA 0.87 NA 9.6748674 685 16 55905676 55905676 C T splicing CES5A NM_001190158:exon5:c.366-1G>A,NM_001143685:exon4:c.279-1G>A,NM_145024:exon4:c.279-1G>A NA NA splicing ENSG00000159398 ENST00000521992:exon5:c.366-1G>A,ENST00000319165:exon4:c.279-1G>A,ENST00000290567:exon4:c.279-1G>A,ENST00000520435:exon4:c.279-1G>A NA NA Score=346;Name=lod=34 NA 16q12.2 NA NA NA NA rs72810507 0.06 0.06 0.043 0.0477236 0.1233 0.0327 0.0504 0.0121 0.0317 0.12 0.03 0.05 0.01 0.09 0.12 . . . . . . . . 0.000 P . . . . . . . . . 2.836 15.45 4.89 2.633 5.842 14.293 2.836059 2.836059 NA 0.113953 0.029117 NA 0.123 NA 9.672747 685 10 124610027 124610027 G A exonic FAM24B NA nonsynonymous SNV FAM24B:NM_001204364:exon3:c.C5T:p.P2L,FAM24B:NM_152644:exon3:c.C5T:p.P2L exonic ENSG00000213185 NA nonsynonymous SNV ENSG00000213185:ENST00000368896:exon3:c.C5T:p.P2L,ENSG00000213185:ENST00000368898:exon3:c.C5T:p.P2L NA NA 10q26.13 NA Name=USF-1,c-Fos,c-Jun Name=48 NA rs1891110 0.53 0.53 0.522 0.502396 0.5785 0.4931 0.4597 0.4834 0.4898 0.58 0.52 0.45 0.51 0.5284 0.58 0.23 T 0.0 B 0.0 B 0.956 U 1.000 P . . 1.1 T -0.926 T 0.000 T 0.016 -1.238 0.055 3.0 0.555 1.235 5.076 -1.23818 NA 0.81 0.554884 0.5202 NA 0.464 NA 9.6715494 685 19 5866724 5866724 G A exonic FUT5 NA nonsynonymous SNV FUT5:NM_002034:exon2:c.C1013T:p.T338M exonic ENSG00000130383 NA nonsynonymous SNV ENSG00000130383:ENST00000588525:exon2:c.C1013T:p.T338M,ENSG00000130383:ENST00000252675:exon5:c.C1013T:p.T338M Score=313;Name=lod=25 NA 19p13.3 NA NA NA NA rs4807054 0.41 0.41 0.291 0.40016 0.3837 0.5516 0.5317 0.2254 0.4039 0.35 0.58 0.51 0.22 0.4085 0.58 0.08 T 0.64 P 0.219 B 0.927 N 1.000 P 2.375 M 1.86 T -0.915 T 0.000 T 0.14 1.721 11.71 0.912 1.211 0.495 7.483 1.720979 1.720979 0.03 0.36997 0.241027 ID=COSM1396046;OCCURENCE=1(large_intestine) 0.21 NA 9.6711634 685 1 152281479 152281479 G T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C5883A:p.H1961Q exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C5883A:p.H1961Q NA NA 1q21.3 NA NA NA NA rs3126079 0.46 0.46 0.494 0.538139 0.1759 0.6607 0.4683 0.7897 0.4939 0.18 0.63 0.39 0.74 0.3173 0.74 0.59 T 0.0 B 0.0 B . . 1.000 P 0.255 N 5.51 T -0.955 T 0.000 T 0.014 -0.995 0.268 -4.75 -3.868 -4.708 2.776 -0.994755 NA 1 0.172093 0.688153 NA 0.384 NA 9.6680404 685 10 105037868 105037868 C T exonic INA NA synonymous SNV INA:NM_032727:exon1:c.C900T:p.R300R exonic ENSG00000148798 NA synonymous SNV ENSG00000148798:ENST00000369849:exon1:c.C900T:p.R300R Score=791;Name=lod=2184 NA 10q24.33 Score=847;Name=V$ELK1_01 NA Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183071 NA NA NA NA NA NA NA 9.6666666 685 19 10939816 10939816 C T exonic DNM2 NA synonymous SNV DNM2:NM_001005362:exon18:c.C2151T:p.D717D,DNM2:NM_004945:exon18:c.C2151T:p.D717D,DNM2:NM_001005360:exon19:c.C2163T:p.D721D,DNM2:NM_001005361:exon19:c.C2163T:p.D721D,DNM2:NM_001190716:exon19:c.C2163T:p.D721D exonic ENSG00000079805 NA synonymous SNV ENSG00000079805:ENST00000359692:exon18:c.C2151T:p.D717D,ENSG00000079805:ENST00000408974:exon18:c.C2151T:p.D717D,ENSG00000079805:ENST00000314646:exon19:c.C2163T:p.D721D,ENSG00000079805:ENST00000355667:exon19:c.C2163T:p.D721D,ENSG00000079805:ENST00000389253:exon19:c.C2163T:p.D721D,ENSG00000079805:ENST00000585892:exon19:c.C2163T:p.D721D Score=552;Name=lod=233 NA 19p13.2 NA Name=CTCF_(SC-5916),ZBTB33,CTCF Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706356 NA NA NA NA NA NA NA 9.6666666 685 17 7406476 7406476 G C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon17:c.G2793C:p.R931R exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon17:c.G2793C:p.R931R Score=560;Name=lod=251 NA 17p13.1 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916),Pol2-4H8 Name=14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008624 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103732 NA NA NA NA NA NA NA 9.666658 685 6 116325143 116325143 G A exonic FRK NA synonymous SNV FRK:NM_002031:exon2:c.C363T:p.I121I exonic ENSG00000111816 NA synonymous SNV ENSG00000111816:ENST00000606080:exon2:c.C363T:p.I121I Score=540;Name=lod=209 NA 6q22.1 NA Name=PU.1,JunD Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4737 NA NA NA NA NA NA NA 9.66665 685 11 116661330 116661330 G A exonic APOA5 NA synonymous SNV APOA5:NM_001166598:exon4:c.C615T:p.H205H,APOA5:NM_052968:exon4:c.C615T:p.H205H exonic ENSG00000110243 NA synonymous SNV ENSG00000110243:ENST00000227665:exon3:c.C615T:p.H205H,ENSG00000110243:ENST00000542499:exon4:c.C615T:p.H205H Score=433;Name=lod=77 NA 11q23.3 Score=960;Name=V$USF_C NA Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001861 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832431 NA NA NA NA NA NA NA 9.666648 686 16 1272275 1272275 C T exonic TPSG1 NA nonsynonymous SNV TPSG1:NM_012467:exon5:c.G578A:p.R193H exonic ENSG00000116176 NA nonsynonymous SNV ENSG00000116176:ENST00000234798:exon5:c.G578A:p.R193H NA NA 16p13.3 NA NA NA NA rs143120059 0.03 0.03 0.022 0.0249601 0.0557 NA 0.0375 NA 0.044 0.06 NA 0.04 NA 0.0529 0.06 0.06 T 0.996 D 0.829 P . . 1.000 N 1.39 L -2.5 D -0.628 T 0.171 T 0.076 1.988 12.6 0.547 0.314 -0.252 2.411 1.987806 1.987806 0.09 0.060458 0.010137 ID=COSM967132;OCCURENCE=1(endometrium) 0.043 NA 9.6642754 686 11 76867745 76867745 G A exonic MYO7A NA synonymous SNV MYO7A:NM_000260:exon6:c.G510A:p.L170L,MYO7A:NM_001127179:exon6:c.G510A:p.L170L,MYO7A:NM_001127180:exon6:c.G510A:p.L170L exonic ENSG00000137474 NA synonymous SNV ENSG00000137474:ENST00000409709:exon6:c.G510A:p.L170L,ENSG00000137474:ENST00000409893:exon6:c.G510A:p.L170L,ENSG00000137474:ENST00000458637:exon6:c.G510A:p.L170L,ENSG00000137474:ENST00000409619:exon7:c.G477A:p.L159L Score=525;Name=lod=181 NA 11q13.5 Score=734;Name=V$PPARG_01 NA NA Score=87;Name=431899_0_+_87 rs34477144 0.0018 0.0018 0.001 0.000998403 0.001 NA 0.0014 0.0015 0.001 0.0013 NA 0.01 0.002 0.0025 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103259 NA NA 0.002724 0 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036177.1;CLNDSDB=.;CLNDSDBID=. 9.6604426 686 11 6790028 6790028 C G exonic OR2AG2 NA nonsynonymous SNV OR2AG2:NM_001004490:exon1:c.G161C:p.R54P exonic ENSG00000188124 NA nonsynonymous SNV ENSG00000188124:ENST00000338569:exon1:c.G161C:p.R54P NA NA 11p15.4 NA NA NA NA rs10839616 0.23 0.23 0.246 0.288538 0.2157 0.2143 0.1671 0.3654 0.4223 0.22 0.19 0.2 0.33 0.2389 0.34 0.01 D 0.942 P 0.738 P 0.189 N 1.000 P 2.395 M 7.37 T -0.898 T 0.000 T 0.269 0.692 7.698 0.401 0.087 -0.918 8.302 0.692473 NA 0.02 0.219972 0.340981 NA 0.362 NA 9.6587614 686 2 170493103 170493103 T A exonic PPIG NA nonsynonymous SNV PPIG:NM_004792:exon14:c.T1335A:p.D445E exonic ENSG00000138398 NA nonsynonymous SNV ENSG00000138398:ENST00000433207:exon11:c.T1314A:p.D438E,ENSG00000138398:ENST00000409714:exon13:c.T1290A:p.D430E,ENSG00000138398:ENST00000260970:exon14:c.T1335A:p.D445E,ENSG00000138398:ENST00000448752:exon14:c.T1335A:p.D445E Score=730;Name=lod=1231 NA 2q31.1 NA NA NA NA rs1050354 0.55 0.55 0.581 0.584265 0.5378 0.4296 0.4625 0.7595 0.6411 0.54 0.43 0.51 0.71 0.5724 0.72 0.5 T 0.02 B 0.007 B 0.000 D 0.000 P 0.345 N 2.52 T -1.038 T 0.000 T 0.066 0.624 7.359 4.74 1.028 0.739 10.071 0.624371 NA 0.36 0.566979 0.72484 ID=COSM148985;OCCURENCE=1(stomach) 0.609 NA 9.6561544 686 1 221054648 221054648 A C exonic HLX NA synonymous SNV HLX:NM_021958:exon2:c.A705C:p.A235A exonic ENSG00000136630 NA synonymous SNV ENSG00000136630:ENST00000366903:exon2:c.A705C:p.A235A Score=567;Name=lod=268 NA 1q41 Score=860;Name=V$HAND1E47_01 Name=SUZ12 Name=75 NA rs146391223 0.01 0.01 0.008 0.0203674 NA 0.0327 0.0086 NA 0.0644 NA 0.05 0.0028 NA 0.0104 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.098897 2.098897 NA 0.00093 0 NA NA NA 9.6553366 686 7 151859523 151859523 G A exonic MLL3 NA synonymous SNV MLL3:NM_170606:exon43:c.C11139T:p.A3713A exonic ENSG00000055609 NA synonymous SNV ENSG00000055609:ENST00000424877:exon1:c.C897T:p.A299A,ENSG00000055609:ENST00000262189:exon43:c.C11139T:p.A3713A,ENSG00000055609:ENST00000355193:exon43:c.C11139T:p.A3713A NA NA 7q36.1 NA NA Name=3 NA rs140482040 0.0005 0.0005 NA 0.00119808 0.004 NA 0.0029 NA NA 0.0013 NA NA NA 0.0029 0.0045 . . . . . . . . 1.000 N . . . . . . . . . 1.401 10.62 3.4 1.268 0.630 6.324 1.40119 1.40119 NA 0.004535 0.000227 NA NA NA 9.6552316 687 17 10551919 10551919 G C exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon8:c.C690G:p.A230A exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon7:c.C690G:p.A230A,ENSG00000109063:ENST00000583535:exon8:c.C690G:p.A230A Score=488;Name=lod=128 NA 17p13.1 Score=987;Name=V$IK2_01 Name=CTCF Name=4 NA rs147148934 0.0032 0.0032 0.003 0.00319489 0.003 NA 0.0072 0.0008 0.0072 0.004 NA 0.01 0.002 0.0048 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531339 NA NA 0.004767 0.00227 NA NA NA 9.6540996 687 9 90500193 90500193 C G exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C791G:p.A264G exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.C791G:p.A264G NA NA 9q22.1 NA NA NA NA rs59256416 0.12 0.12 0.122 0.124201 0.0636 0.0347 0.0461 0.3464 0.0337 0.07 0.03 0.06 0.33 0.0676 0.33 0.47 T 0.541 P 0.179 B . . 1.000 P 0.69 N 3.9 T -0.938 T 0.000 T 0.011 0.025 4.145 -3.39 -1.792 -0.872 3.770 0.025191 NA 0.05 0.048488 0.287108 NA 0.101 NA 9.6536454 687 14 20841707 20841707 C T exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon46:c.G6640A:p.V2214I exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000545983:exon17:c.G1654A:p.V552I,ENSG00000129566:ENST00000555008:exon34:c.G4669A:p.V1557I,ENSG00000129566:ENST00000556935:exon44:c.G6316A:p.V2106I,ENSG00000129566:ENST00000262715:exon46:c.G6640A:p.V2214I NA NA 14q11.2 Score=748;Name=V$PPARA_01 NA NA NA rs1713449 0.31 0.31 0.319 0.324081 0.2187 0.3056 0.3646 0.4675 0.229 0.23 0.3 0.32 0.46 0.2579 0.46 0.38 T 0.313 B 0.079 B 0.176 N 1.000 P 0.55 N 2.19 T -0.918 T 0.000 T 0.041 0.117 4.632 4.35 0.601 1.561 12.057 0.11739 NA 0.25 0.205465 0.409896 ID=COSM432796;OCCURENCE=1(breast) 0.217 NA 9.6512684 687 17 10551910 10551910 G A exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon8:c.C699T:p.N233N exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon7:c.C699T:p.N233N,ENSG00000109063:ENST00000583535:exon8:c.C699T:p.N233N NA NA 17p13.1 Score=987;Name=V$IK2_01 Name=CTCF Name=4 NA rs16943604 0.01 0.01 0.01 0.0123802 0.003 NA 0.0115 0.0333 0.0072 0.004 NA 0.01 0.03 0.0075 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040314 NA NA 0.005 0.028824 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117678.2;CLNDSDB=.;CLNDSDBID=. 9.6511666 687 6 35285720 35285720 A C exonic DEF6 NA nonsynonymous SNV DEF6:NM_022047:exon6:c.A860C:p.N287T exonic ENSG00000023892 NA nonsynonymous SNV ENSG00000023892:ENST00000542066:exon5:c.A95C:p.N32T,ENSG00000023892:ENST00000316637:exon6:c.A860C:p.N287T Score=371;Name=lod=43 NA 6p21.31 NA Name=CTCF,c-Myc,HA-E2F1 Name=127 NA rs2395617 0.9 0.9 0.882 0.907748 0.8946 0.9891 0.915 0.8162 0.956 0.88 0.99 0.89 0.84 0.9032 0.99 0.42 T 0.017 B 0.008 B 0.001 N 1.000 P 0.9 L 2.66 T -0.983 T 0.016 T 0.004 1.86 12.18 3.57 0.261 1.680 3.846 1.859812 1.859812 0.78 0.885814 0.829778 NA 0.833 NA 9.6497194 687 22 43206950 43206950 A C exonic ARFGAP3 NA nonsynonymous SNV ARFGAP3:NM_001142293:exon11:c.T933G:p.S311R,ARFGAP3:NM_014570:exon12:c.T1065G:p.S355R exonic ENSG00000242247 NA nonsynonymous SNV ENSG00000242247:ENST00000429508:exon10:c.T849G:p.S283R,ENSG00000242247:ENST00000437119:exon11:c.T933G:p.S311R,ENSG00000242247:ENST00000263245:exon12:c.T1065G:p.S355R Score=363;Name=lod=40 NA 22q13.2 NA NA NA NA rs1018448 0.68 0.68 0.67 0.701877 0.5417 0.6399 0.7378 0.9206 0.6094 0.53 0.66 0.73 0.9 0.5996 0.9 0.94 T 0.0 B 0.002 B 0.003 N 0.895 P -1.01 N 3.48 T -1.002 T 0.000 T 0.066 -0.241 2.837 4.2 1.192 1.294 4.354 -0.241382 NA 0.43 0.545233 0.864276 NA 0.681 NA 9.6468004 687 19 37441980 37441980 A G exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204837:exon5:c.A1733G:p.Q578R,ZNF568:NM_001204836:exon6:c.A1733G:p.Q578R,ZNF568:NM_001204835:exon7:c.A1922G:p.Q641R,ZNF568:NM_198539:exon7:c.A1925G:p.Q642R exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000415168:exon5:c.A1733G:p.Q578R,ENSG00000198453:ENST00000333987:exon7:c.A1925G:p.Q642R NA NA 19q13.12 NA Name=SETDB1 NA NA rs1644634 0.54 0.54 0.522 0.547923 0.5636 0.3085 0.5634 0.6982 0.5644 0.57 0.32 0.57 0.72 0.5486 0.72 0.04 D 0.0 B 0.0 B . . 1.000 P 0.125 N 3.57 T -0.995 T 0.000 T 0.026 -0.995 0.267 -6.21 -1.765 -0.872 5.980 -0.995235 NA 0.82 0.574561 0.705362 NA 0.543 NA 9.6465724 687 6 117622188 117622188 T G exonic ROS1 NA nonsynonymous SNV ROS1:NM_002944:exon42:c.A6682C:p.K2228Q exonic ENSG00000047936 NA nonsynonymous SNV ENSG00000047936:ENST00000368508:exon42:c.A6682C:p.K2228Q,ENSG00000047936:ENST00000368507:exon43:c.A6664C:p.K2222Q NA NA 6q22.1 NA NA NA NA rs529156 0.16 0.16 0.138 0.139377 0.2197 0.1587 0.1657 0.0386 0.1544 0.23 0.15 0.17 0.04 0.2079 0.26 0.41 T 0.0 B 0.0 B 0.339 N 1.000 P -0.55 N -0.5 T -1.081 T 0.048 T 0.038 0.424 6.301 4.07 1.449 1.029 5.098 0.423609 NA 0.38 0.259767 0.074217 ID=COSM150169;OCCURENCE=1(stomach) 0.087 NA 9.6459664 687 6 117622233 117622233 C T exonic ROS1 NA nonsynonymous SNV ROS1:NM_002944:exon42:c.G6637A:p.D2213N exonic ENSG00000047936 NA nonsynonymous SNV ENSG00000047936:ENST00000368508:exon42:c.G6637A:p.D2213N,ENSG00000047936:ENST00000368507:exon43:c.G6619A:p.D2207N Score=414;Name=lod=64 NA 6q22.1 NA NA NA NA rs529038 0.16 0.16 0.132 0.136382 0.2197 0.1587 0.1628 0.0287 0.1544 0.23 0.15 0.17 0.04 0.2084 0.26 0.51 T 0.009 B 0.015 B 0.024 N 0.981 P 0.795 N -2.43 D -0.914 T 0.260 T 0.03 2.286 13.6 3.19 0.754 0.902 7.372 2.286366 2.286366 0.57 0.259419 0.06877 ID=COSM150170;OCCURENCE=1(stomach) 0.087 NA 9.6458144 687 18 61565014 61565014 C T exonic SERPINB2 NA synonymous SNV SERPINB2:NM_002575:exon5:c.C471T:p.D157D,SERPINB2:NM_001143818:exon6:c.C471T:p.D157D exonic ENSG00000197632,ENSG00000242550 NA synonymous SNV ENSG00000197632:ENST00000299502:exon5:c.C471T:p.D157D,ENSG00000197632:ENST00000413956:exon6:c.C471T:p.D157D,ENSG00000197632:ENST00000457692:exon6:c.C471T:p.D157D Score=329;Name=lod=29 NA 18q21.33 Score=856;Name=V$STAT5A_01 NA NA NA rs6106 0.06 0.06 0.066 0.0625 0.002 NA 0.0259 0.2216 NA 0.0013 NA 0.03 0.24 0.0177 0.24 . . . . . . . . 0.000 P . . . . -1.067 T 0.000 T . 0.825 8.325 2.87 0.418 0.916 8.494 0.825088 NA NA 0.001395 0.177258 NA 0.109 NA 9.6455716 688 10 115910928 115910928 G T exonic C10orf118 NA nonsynonymous SNV C10orf118:NM_018017:exon4:c.C811A:p.Q271K exonic ENSG00000165813 NA nonsynonymous SNV ENSG00000165813:ENST00000369287:exon4:c.C811A:p.Q271K Score=586;Name=lod=320 NA 10q25.3 NA NA NA NA rs7095762 0.21 0.21 0.211 0.207268 0.2505 0.0585 0.2349 0.3434 0.1125 0.24 0.06 0.25 0.31 0.2058 0.32 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.49 N 1.3 T -0.972 T 0.000 T 0.012 -0.7 0.97 4.8 0.496 4.641 11.990 -0.700333 NA 1 0.235 0.317068 NA 0.167 NA 9.6420334 688 17 6683215 6683215 C T exonic FBXO39 NA nonsynonymous SNV FBXO39:NM_153230:exon2:c.C28T:p.P10S exonic ENSG00000177294 NA nonsynonymous SNV ENSG00000177294:ENST00000321535:exon2:c.C28T:p.P10S Score=431;Name=lod=75 NA 17p13.1 Score=755;Name=V$NRSF_01 NA NA NA rs4796555 0.34 0.34 0.318 0.324681 0.2107 0.6151 0.2896 0.2148 0.316 0.21 0.66 0.25 0.22 0.2652 0.66 0.67 T 0.022 B 0.01 B 0.130 N 0.995 P 0.805 L 0.58 T -0.934 T 0.000 T 0.045 2.013 12.69 2.26 0.813 0.928 4.791 2.013227 2.013227 0 0.218488 0.217431 NA 0.283 NA 9.6389454 688 17 47210469 47210469 G A exonic B4GALNT2 NA nonsynonymous SNV B4GALNT2:NM_153446:exon1:c.G82A:p.E28K exonic ENSG00000167080 NA nonsynonymous SNV ENSG00000167080:ENST00000300404:exon1:c.G82A:p.E28K NA NA 17q21.32 NA NA NA NA rs117575112 0.05 0.05 0.035 0.0559105 0.0716 0.0724 0.0432 0.0166 0.0849 0.08 0.07 0.06 0.01 0.0658 0.08 0.35 T 0.581 P 0.086 B . . 0.997 N 0 N 2.1 T -1.015 T 0.001 T 0.055 2.393 13.96 2.36 1.623 -0.172 8.357 2.392587 2.392587 NA 0.057688 0.02542 NA 0.022 NA 9.6382454 688 17 8215534 8215534 C T exonic ARHGEF15 NA synonymous SNV ARHGEF15:NM_025014:exon2:c.C177T:p.T59T,ARHGEF15:NM_173728:exon2:c.C177T:p.T59T exonic ENSG00000198844 NA synonymous SNV ENSG00000198844:ENST00000421050:exon1:c.C177T:p.T59T,ENSG00000198844:ENST00000361926:exon2:c.C177T:p.T59T,ENSG00000198844:ENST00000579439:exon2:c.C177T:p.T59T,ENSG00000198844:ENST00000583529:exon3:c.C177T:p.T59T Score=336;Name=lod=31 NA 17p13.1 Score=871;Name=V$YY1_01 NA NA NA rs3744651 0.45 0.45 0.472 0.416933 0.3211 0.6468 0.4424 0.4062 0.2751 0.32 0.65 0.42 0.43 0.3756 0.65 0.02 D . . . . . . 0.000 P . . . . -0.951 T 0.000 T . 0.644 7.455 2.11 0.358 -0.282 5.165 0.643538 NA 0 0.331977 0.378348 NA 0.362 NA 9.6379896 688 1 879482 879482 G C exonic SAMD11 NA synonymous SNV SAMD11:NM_152486:exon14:c.G1995C:p.G665G exonic ENSG00000187634 NA synonymous SNV ENSG00000187634:ENST00000342066:exon14:c.G1995C:p.G665G NA NA 1p36.33 NA NA NA NA rs149880798 0.01 0.01 0.004 0.00399361 0.0149 NA 0.0072 NA NA 0.02 NA 0.01 NA 0.0062 0.02 0.01 D . . . . 0.000 D 0.690 N . . . . -0.968 T 0.056 T . -0.843 0.567 -5.2 -0.861 -0.113 3.898 -0.842805 NA NA 0.008837 0.001816 NA NA NA 9.6367296 688 20 39797465 39797465 T C exonic PLCG1 NA nonsynonymous SNV PLCG1:NM_002660:exon21:c.T2438C:p.I813T,PLCG1:NM_182811:exon21:c.T2438C:p.I813T exonic ENSG00000124181 NA nonsynonymous SNV ENSG00000124181:ENST00000373271:exon21:c.T2438C:p.I813T,ENSG00000124181:ENST00000373272:exon21:c.T2438C:p.I813T,ENSG00000124181:ENST00000244007:exon22:c.T2438C:p.I813T Score=488;Name=lod=128 NA 20q12 NA NA NA NA rs753381 0.71 0.71 0.738 0.732827 0.5398 0.8075 0.6398 0.9818 0.5838 0.54 0.81 0.57 0.97 0.6155 0.97 1 T 0.0 B 0.0 B 0.000 N 0.999 P -0.82 N 0.91 T -0.938 T 0.000 T 0.074 1.335 10.38 5.82 1.486 1.012 15.181 1.33506 1.33506 0.46 0.542093 0.917612 NA 0.688 NA 9.6359404 688 2 10126330 10126330 G A exonic GRHL1 NA nonsynonymous SNV GRHL1:NM_198182:exon9:c.G1189A:p.V397I exonic ENSG00000134317 NA nonsynonymous SNV ENSG00000134317:ENST00000324883:exon8:c.G622A:p.V208I,ENSG00000134317:ENST00000324907:exon9:c.G1189A:p.V397I,ENSG00000134317:ENST00000472167:exon9:c.G1189A:p.V397I,ENSG00000134317:ENST00000405379:exon10:c.G1189A:p.V397I Score=595;Name=lod=350 NA 2p25.1 NA NA NA NA rs2303920 0.29 0.29 0.275 0.26278 0.2316 0.2599 0.402 0.3064 0.1401 0.23 0.25 0.39 0.34 0.2537 0.39 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.465 N 2.42 T -0.929 T 0.000 T 0.106 0.867 8.514 5.49 0.922 6.326 11.477 0.867179 NA 1 0.213023 0.311847 ID=COSM148796;OCCURENCE=1(stomach) 0.246 NA 9.6350104 689 X 76937963 76937963 G C exonic ATRX NA nonsynonymous SNV ATRX:NM_138270:exon8:c.C2671G:p.Q891E,ATRX:NM_000489:exon9:c.C2785G:p.Q929E exonic ENSG00000085224 NA nonsynonymous SNV ENSG00000085224:ENST00000395603:exon8:c.C2671G:p.Q891E,ENSG00000085224:ENST00000373344:exon9:c.C2785G:p.Q929E NA NA Xq21.1 NA NA NA NA rs3088074 0.51 0.51 0.53418 NA NA NA NA NA NA 0.32 0.49 0.36 0.94 0.3924 0.94 1 T 0.0 B 0.0 B 0.069 N 1.000 P -1.525 N -2.55 D -0.934 T 0.000 T 0.007 -0.924 0.391 4.93 0.607 0.278 9.941 -0.923656 NA 1 0.305965 0.863103 NA 0.406 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078959.4;CLNDSDB=.;CLNDSDBID=. 9.6349684 689 8 42036577 42036577 A G exonic PLAT NA synonymous SNV PLAT:NM_033011:exon12:c.T1230C:p.S410S,PLAT:NM_000930:exon13:c.T1368C:p.S456S exonic ENSG00000104368 NA nonsynonymous SNV ENSG00000104368:ENST00000270189:exon10:c.T860C:p.L287P Score=387;Name=lod=50 NA 8p11.21 NA NA NA NA rs1136159 0.1 0.1 0.096 0.103035 0.1143 0.1885 0.0749 0.0151 0.1421 0.11 0.16 0.08 0.02 0.1273 0.16 0.15 T . . . . . . 0.000 P . . -0.89 T -0.990 T 0.002 T . 1.511 11 4.04 0.895 3.768 7.900 1.511239 1.511239 0.09 0.127209 0.030867 NA 0.051 NA 9.631191 689 22 44131786 44131786 T C exonic EFCAB6 NA nonsynonymous SNV EFCAB6:NM_198856:exon5:c.A139G:p.R47G,EFCAB6:NM_022785:exon7:c.A595G:p.R199G exonic ENSG00000186976 NA nonsynonymous SNV ENSG00000186976:ENST00000358439:exon5:c.A277G:p.R93G,ENSG00000186976:ENST00000396231:exon5:c.A139G:p.R47G,ENSG00000186976:ENST00000356087:exon6:c.A277G:p.R93G,ENSG00000186976:ENST00000262726:exon7:c.A595G:p.R199G NA NA 22q13.2 NA NA NA NA rs3747203 0.06 0.06 0.056 0.0748802 0.0696 0.126 0.0403 0.0015 0.1513 0.07 0.12 0.05 NA 0.0721 0.12 0.12 T 0.982 D 0.79 P 0.006 N 1.000 N 2.215 M 1.55 T -1.030 T 0.003 T 0.423 1.997 12.63 -1.68 -0.086 0.041 16.924 1.996917 1.996917 0 0.060814 0.013618 NA 0.029 NA 9.6308194 689 2 26800422 26800422 G A exonic C2orf70 NA synonymous SNV C2orf70:NM_001105519:exon3:c.G387A:p.T129T exonic ENSG00000173557 NA nonsynonymous SNV ENSG00000173557:ENST00000409392:exon4:c.G349A:p.G117R NA NA 2p23.3 Score=857;Name=V$EVI1_02 NA NA NA rs1053807 0.37 0.37 0.34 0.341254 0.4642 0.2183 0.5821 0.2035 0.3569 0.46 0.25 0.6 0.2 0.4282 0.6 0 D . . . . . . 0.000 P . . . . -1.032 T 0.000 T . -1.335 0.031 -10.5 -4.527 -5.452 1.084 -1.334981 NA NA 0.477197 0.239214 NA 0.399 NA 9.630403 689 22 38323507 38323507 G T exonic MICALL1 NA nonsynonymous SNV MICALL1:NM_033386:exon9:c.G1555T:p.A519S exonic ENSG00000100139 NA nonsynonymous SNV ENSG00000100139:ENST00000215957:exon9:c.G1555T:p.A519S Score=289;Name=lod=20 NA 22q13.1 NA Name=ZNF263 NA NA rs9610875 0.17 0.17 0.155 0.167732 0.2336 0.1349 0.2637 0.0265 0.2566 0.24 0.15 0.28 0.02 0.2279 0.28 1 T 0.0 B 0.001 B 0.073 N 0.002 P -2.215 N 0.85 T -0.951 T 0.000 T 0.129 -0.041 3.806 1.63 -0.039 2.468 7.755 -0.040672 NA 1 0.24186 0.057195 NA 0.101 NA 9.6299734 689 12 50529736 50529736 G A exonic CERS5 NA synonymous SNV CERS5:NM_147190:exon7:c.C753T:p.D251D exonic ENSG00000139624 NA synonymous SNV ENSG00000139624:ENST00000317551:exon7:c.C753T:p.D251D,ENSG00000139624:ENST00000551697:exon7:c.C753T:p.D251D,ENSG00000139624:ENST00000422340:exon8:c.C579T:p.D193D Score=561;Name=lod=254 NA 12q13.12 NA NA NA NA rs3741562 0.29 0.29 0.282 0.314896 0.3479 0.1806 0.3026 0.3162 0.4264 0.34 0.19 0.3 0.31 0.3286 0.36 . . . . . . . . 0.000 P . . . . -0.948 T 0.000 T . 0.813 8.269 4.63 2.567 3.398 8.538 0.812981 NA NA 0.360465 0.322288 NA 0.355 NA 9.6297016 689 7 44112873 44112873 G T UTR3 POLM NM_013284:c.*17C>A NA NA exonic ENSG00000122678 NA nonsynonymous SNV ENSG00000122678:ENST00000395831:exon9:c.C1315A:p.H439N NA NA 7p13 NA NA NA NA rs3218660 0.23 0.23 0.178 0.231629 0.2336 0.1141 0.2738 0.3139 0.2096 0.24 0.12 0.28 0.31 0.2448 0.31 0 D 0.0 B 0.001 B 0.000 D 1.000 P . . 1.71 T -0.964 T 0.000 T 0.057 2.36 13.85 -3.99 -1.400 -0.269 0.509 2.360374 2.360374 0 0.226163 0.314117 NA 0.196 NA 9.6287704 689 10 49420008 49420008 T C exonic FRMPD2 NA nonsynonymous SNV FRMPD2:NM_001018071:exon13:c.A1600G:p.K534E exonic ENSG00000170324 NA nonsynonymous SNV ENSG00000170324:ENST00000305531:exon11:c.A1525G:p.K509E,ENSG00000170324:ENST00000407470:exon12:c.A1504G:p.K502E,ENSG00000170324:ENST00000374201:exon13:c.A1600G:p.K534E Score=431;Name=lod=75 NA 10q11.22 NA NA NA NA rs1864345 0.27 0.27 0.279 0.282348 0.2535 0.0694 0.183 0.6074 0.1626 0.25 0.05 0.2 0.62 0.2337 0.62 1 T 0.0 B 0.0 B . . 0.000 P -2.56 N -1.19 T -0.911 T 0.000 T 0.065 0.071 4.384 3.39 0.225 1.490 8.676 0.070801 NA 1 0.217442 0.542896 NA 0.348 NA 9.6286914 689 17 649505 649505 T A exonic GEMIN4 NA nonsynonymous SNV GEMIN4:NM_015721:exon2:c.A1778T:p.E593V exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000576778:exon1:c.A1745T:p.E582V,ENSG00000179409:ENST00000319004:exon2:c.A1778T:p.E593V Score=313;Name=lod=25 NA 17p13.3 NA NA NA NA rs4968104 0.16 0.16 0.139 0.158746 0.2465 0.122 0.1772 0.0545 0.2342 0.24 0.13 0.2 0.05 0.2081 0.25 0.2 T 0.279 B 0.086 B 0.744 N 0.000 P 1.79 L 2.33 T -0.981 T 0.000 T 0.494 -0.365 2.28 5.46 2.079 0.530 5.915 -0.36493 NA 0.37 0.251555 0.091764 ID=COSM1385279,COSM437180;OCCURENCE=1(breast),1(large_intestine) 0.232 NA 9.6271784 689 5 143200053 143200053 C T exonic HMHB1 NA nonsynonymous SNV HMHB1:NM_021182:exon2:c.C46T:p.H16Y exonic ENSG00000158497 NA nonsynonymous SNV ENSG00000158497:ENST00000289448:exon2:c.C46T:p.H16Y NA NA 5q31.3 NA NA Name=13 NA rs161557 0.28 0.28 0.275 0.292332 0.2227 0.3889 0.3343 0.295 0.2311 0.21 0.4 0.26 0.27 0.2652 0.4 0 D 0.021 B 0.007 B . . 0.990 P . . 0.02 T -0.959 T 0.000 T 0.04 0.924 8.763 -2.32 -0.226 -0.312 0.189 0.924004 NA NA 0.218773 0.254965 NA 0.399 NA 9.6266604 689 19 58774071 58774071 A G exonic ZNF544 NA nonsynonymous SNV ZNF544:NM_014480:exon7:c.A2099G:p.Q700R exonic ENSG00000198131 NA nonsynonymous SNV ENSG00000198131:ENST00000415203:exon3:c.A2015G:p.Q672R,ENSG00000198131:ENST00000599953:exon4:c.A1673G:p.Q558R,ENSG00000198131:ENST00000600044:exon5:c.A2015G:p.Q672R,ENSG00000198131:ENST00000600220:exon5:c.A2015G:p.Q672R,ENSG00000198131:ENST00000596652:exon6:c.A2099G:p.Q700R,ENSG00000198131:ENST00000269829:exon7:c.A2099G:p.Q700R NA NA 19q13.43 NA Name=ZNF274,SETDB1 NA NA rs260462 0.55 0.55 0.523 0.527356 0.5915 0.5873 0.5403 0.4297 0.5225 0.59 0.58 0.57 0.44 0.5475 0.59 1 T 0.03 B 0.0 B . . 1.000 P -0.26 N 1.3 T -0.971 T 0.000 T 0.01 -1.487 0.018 -5.14 -1.370 -3.353 10.032 -1.486893 NA 0.57 0.56907 0.466182 NA 0.522 NA 9.6252634 689 13 24876752 24876752 T C exonic SPATA13 NA synonymous SNV SPATA13:NM_153023:exon12:c.T1800C:p.P600P,SPATA13:NM_001166271:exon13:c.T3675C:p.P1225P exonic ENSG00000182957 NA synonymous SNV ENSG00000182957:ENST00000409126:exon9:c.T1380C:p.P460P,ENSG00000182957:ENST00000434675:exon9:c.T1494C:p.P498P,ENSG00000182957:ENST00000399949:exon10:c.T1566C:p.P522P,ENSG00000182957:ENST00000343003:exon11:c.T1632C:p.P544P,ENSG00000182957:ENST00000382095:exon12:c.T1800C:p.P600P,ENSG00000182957:ENST00000382108:exon13:c.T3675C:p.P1225P,ENSG00000182957:ENST00000424834:exon15:c.T3675C:p.P1225P NA NA 13q12.12 Score=810;Name=V$SREBP1_02 NA NA NA rs33990382 0.42 0.42 0.379 0.452077 0.34 0.6062 0.317 0.4977 0.4427 0.31 0.57 0.33 0.46 0.3654 0.57 . . . . . . . . 0.000 P . . . . -0.952 T 0.000 T . -0.526 1.605 -8.13 -1.684 -6.924 4.272 -0.525517 NA NA 0.336047 0.469814 NA 0.471 NA 9.6252196 690 19 9002519 9002519 G C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon51:c.C40297G:p.H13433D exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000380951:exon3:c.C220G:p.H74D,ENSG00000181143:ENST00000397910:exon51:c.C40297G:p.H13433D NA NA 19p13.2 NA NA NA NA rs150783178 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4896 0.22 1 T 0.222 B 0.355 B . . . . . . 2.09 T -1.048 T 0.000 T 0.244 -0.928 0.382 -5.49 -1.841 -3.152 5.917 -0.928 NA 1 0.219535 0.21329 NA NA NA 9.6241984 690 6 31239742 31239742 G C intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 NA Name=NFKB,Oct-2,Pol2,RFX5_(N-494),Pol2-4H8,YY1_(C-20),EBF,TAF1,POU2F2 NA NA rs41553018 0.14 0.14 0.085 0.148762 0.1382 0.0556 0.1873 0.2443 0.0992 0.13 0.05 0.19 0.22 0.1385 0.22 0 D . . . . . . 1.000 P . . . . -0.992 T 0.042 T 0.106 0.431 6.34 -4.02 -1.166 -1.620 4.042 0.430817 NA NA 0.099368 0.155138 NA 0.072 NA 9.623932 690 22 19951816 19951816 C T exonic COMT NA synonymous SNV COMT:NM_007310:exon3:c.C459T:p.L153L,COMT:NM_000754:exon5:c.C609T:p.L203L,COMT:NM_001135161:exon5:c.C609T:p.L203L,COMT:NM_001135162:exon5:c.C609T:p.L203L exonic ENSG00000093010 NA synonymous SNV ENSG00000093010:ENST00000449653:exon3:c.C459T:p.L153L,ENSG00000093010:ENST00000361682:exon5:c.C609T:p.L203L,ENSG00000093010:ENST00000403184:exon5:c.C609T:p.L203L,ENSG00000093010:ENST00000403710:exon5:c.C609T:p.L203L,ENSG00000093010:ENST00000406520:exon5:c.C609T:p.L203L,ENSG00000093010:ENST00000412786:exon5:c.C609T:p.L203L,ENSG00000093010:ENST00000407537:exon6:c.C459T:p.L153L Score=407;Name=lod=60 NA 22q11.21 NA NA NA NA rs165631 0.01 0.01 0.004 0.0091853 0.0179 NA 0.0144 0.0008 0.0174 0.01 NA 0.02 NA 0.0107 0.02 . . . . . . 0.000 D 1.000 D . . -0.61 T -0.944 T 0.134 T . -0.561 1.468 -1.1 0.047 -0.326 3.857 -0.560505 NA NA 0.014419 0.002497 NA 0.007 NA 9.6236476 690 12 95927762 95927762 T C exonic USP44 NA nonsynonymous SNV USP44:NM_001042403:exon2:c.A271G:p.T91A,USP44:NM_032147:exon2:c.A271G:p.T91A exonic ENSG00000136014 NA nonsynonymous SNV ENSG00000136014:ENST00000552440:exon1:c.A271G:p.T91A,ENSG00000136014:ENST00000258499:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000393091:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000537435:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000549639:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000551837:exon3:c.A271G:p.T91A Score=658;Name=lod=628 NA 12q22 Score=890;Name=V$GATA1_05 NA NA NA rs3812813 0.69 0.69 0.68 0.716054 0.5577 0.7242 0.7089 0.8646 0.6748 0.55 0.7 0.68 0.88 0.612 0.88 1 T 0.0 B 0.001 B 0.000 N 0.999 P -1.155 N 1.61 T -0.965 T 0.000 T 0.176 -0.208 2.992 4.22 0.647 1.532 9.607 -0.207916 NA 1 0.542093 0.800045 NA 0.761 NA 9.6215404 690 10 115334124 115334124 C T exonic HABP2 NA synonymous SNV HABP2:NM_001177660:exon3:c.C105T:p.H35H,HABP2:NM_004132:exon3:c.C183T:p.H61H exonic ENSG00000148702 NA nonsynonymous SNV ENSG00000148702:ENST00000537906:exon4:c.C149T:p.T50M NA NA 10q25.3 Score=863;Name=V$AHRARNT_01 NA NA NA rs3740530 0.54 0.54 0.518 0.534545 0.6183 0.6042 0.6354 0.2965 0.6268 0.62 0.62 0.64 0.27 0.6235 0.64 0 D 0.99 D 0.584 P . . 1.000 P . . . . -0.941 T 0.000 T . 0.114 4.611 2.41 0.729 0.639 6.047 0.113538 NA NA 0.638488 0.359737 NA 0.457 NA 9.619712 690 11 10503736 10503736 C T exonic AMPD3 NA nonsynonymous SNV AMPD3:NM_001172431:exon3:c.C76T:p.R26W,AMPD3:NM_000480:exon4:c.C580T:p.R194W,AMPD3:NM_001025389:exon4:c.C553T:p.R185W,AMPD3:NM_001025390:exon4:c.C574T:p.R192W,AMPD3:NM_001172430:exon4:c.C553T:p.R185W exonic ENSG00000133805 NA nonsynonymous SNV ENSG00000133805:ENST00000444303:exon3:c.C76T:p.R26W,ENSG00000133805:ENST00000396553:exon4:c.C553T:p.R185W,ENSG00000133805:ENST00000396554:exon4:c.C580T:p.R194W,ENSG00000133805:ENST00000528723:exon4:c.C574T:p.R192W,ENSG00000133805:ENST00000529507:exon4:c.C553T:p.R185W,ENSG00000133805:ENST00000529834:exon4:c.C553T:p.R185W,ENSG00000133805:ENST00000534047:exon4:c.C580T:p.R194W,ENSG00000133805:ENST00000524866:exon5:c.C553T:p.R185W NA NA 11p15.4 NA NA NA NA rs11042836 0.03 0.03 0.027 0.0229633 0.0755 NA 0.0346 0.003 0.0112 0.07 NA 0.04 0.01 0.054 0.085 0.02 D 0.977 D 0.462 P 0.570 N 1.000 N 0.895 L 1.27 T -1.091 T 0.004 T 0.126 2.909 15.69 -1.45 -0.101 -0.216 3.280 2.909453 2.909453 0.02 0.084886 0.016356 NA 0.014 NA 9.6189474 690 17 74387284 74387284 C T exonic UBE2O NA nonsynonymous SNV UBE2O:NM_022066:exon18:c.G3619A:p.G1207S exonic ENSG00000175931 NA nonsynonymous SNV ENSG00000175931:ENST00000319380:exon18:c.G3619A:p.G1207S Score=333;Name=lod=30 NA 17q25.1 NA NA NA NA rs3803739 0.4 0.4 0.357 0.390176 0.5865 0.3839 0.4755 0.1006 0.5256 0.6 0.34 0.45 0.12 0.5341 0.6 0.77 T 0.437 B 0.098 B 0.446 N 0.045 P 1.1 L -0.73 T -0.978 T 0.000 T 0.146 2.861 15.53 3.61 1.126 2.578 14.020 2.861116 2.861116 0.5 0.594302 0.188606 ID=COSM148348;OCCURENCE=1(stomach) 0.275 NA 9.6184314 690 12 6153514 6153514 A G exonic VWF NA synonymous SNV VWF:NM_000552:exon18:c.T2385C:p.Y795Y exonic ENSG00000110799 NA synonymous SNV ENSG00000110799:ENST00000261405:exon18:c.T2385C:p.Y795Y Score=525;Name=lod=181 Name=Coagulation factor levels 12p13.31 Score=803;Name=V$PPARA_01 Name=c-Fos,AP-2alpha,JunD,AP-2gamma,c-Myc Name=29 NA rs1063857 0.34 0.34 0.339 0.336462 0.3678 0.0913 0.2406 0.6377 0.2178 0.38 0.08 0.27 0.65 0.3231 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.338935 1.338935 NA 0.357558 0.568089 NA 0.442 NA 9.6182086 690 9 139973820 139973820 C T exonic UAP1L1 NA nonsynonymous SNV UAP1L1:NM_207309:exon5:c.C956T:p.A319V exonic ENSG00000197355 NA nonsynonymous SNV ENSG00000197355:ENST00000360271:exon3:c.C587T:p.A196V,ENSG00000197355:ENST00000409858:exon5:c.C956T:p.A319V NA NA 9q34.3 NA NA Name=4 NA rs7037849 0.48 0.48 0.454 0.489217 0.3996 0.6528 0.4452 0.4834 0.4519 0.39 0.66 0.46 0.44 0.4315 0.66 0.04 D 0.787 P 0.34 B 0.372 N 1.000 P 1.59 L 2.26 T -1.004 T 0.000 T 0.054 1.277 10.17 0.091 0.092 1.006 11.789 1.276808 1.276808 0.12 0.386047 0.470268 NA 0.196 NA 9.6161864 690 16 81056441 81056441 T G exonic CENPN NA stoploss CENPN:NM_018455:exon7:c.T613G:p.X205E exonic ENSG00000166451 NA stoploss ENSG00000166451:ENST00000299572:exon7:c.T613G:p.X205E NA NA 16q23.2 NA NA NA NA rs3743503 0.14 0.14 0.128 0.132588 0.1262 0.2063 0.1369 0.0658 0.1503 0.13 0.21 0.15 0.07 0.1412 0.21 . . . . . . . . 1.000 P . . . . . . . . . -0.733 0.869 -8.33 -1.710 0.047 2.288 -0.732616 NA 0.97 0.116628 0.066985 NA 0.065 NA 9.615972 690 3 15276562 15276562 G A exonic CAPN7 NA synonymous SNV CAPN7:NM_014296:exon12:c.G1317A:p.A439A exonic ENSG00000131375 NA synonymous SNV ENSG00000131375:ENST00000253693:exon12:c.G1317A:p.A439A Score=544;Name=lod=216 NA 3p25.1 NA NA NA NA rs35189473 0.01 0.01 0.008 0.0123802 0.0159 0.001 0.0058 NA 0.0419 0.02 0.0017 0.01 NA 0.018 0.02 . . . . . . . . 1.000 D . . . . -0.918 T 0.088 T . 1.322 10.34 -4.67 -0.778 -0.196 7.953 1.322481 1.322481 NA 0.01686 0.004085 NA NA NA 9.6159066 690 14 75142606 75142606 G A exonic AREL1 NA synonymous SNV AREL1:NM_001039479:exon8:c.C876T:p.G292G exonic ENSG00000119682 NA synonymous SNV ENSG00000119682:ENST00000555330:exon6:c.C876T:p.G292G,ENSG00000119682:ENST00000556202:exon7:c.C393T:p.G131G,ENSG00000119682:ENST00000356357:exon8:c.C876T:p.G292G Score=589;Name=lod=330 NA 14q24.3 Score=764;Name=V$PAX6_01 NA NA NA rs35864766 0.01 0.01 0.005 0.00698882 0.0129 NA 0.0101 0.0008 0.0143 0.01 NA 0.01 0.002 0.0151 0.023 . . . . . . . . 1.000 D . . . . -1.012 T 0.055 T . 1.112 9.535 -1.44 -0.091 -0.124 0.163 1.11193 NA NA 0.023114 0.005234 NA NA NA 9.6155526 691 3 159997061 159997061 T A exonic IFT80 NA nonsynonymous SNV IFT80:NM_001190242:exon15:c.A1345T:p.T449S,IFT80:NM_020800:exon16:c.A1756T:p.T586S,IFT80:NM_001190241:exon17:c.A1345T:p.T449S exonic ENSG00000068885,ENSG00000248710 NA nonsynonymous SNV ENSG00000248710:ENST00000483754:exon14:c.A2269T:p.T757S,ENSG00000068885:ENST00000483465:exon15:c.A1345T:p.T449S,ENSG00000068885:ENST00000326448:exon16:c.A1756T:p.T586S,ENSG00000068885:ENST00000496589:exon17:c.A1345T:p.T449S Score=436;Name=lod=79 NA 3q25.33 NA NA NA NA rs6778728 0.26 0.26 0.281 0.261382 0.2356 0.0685 0.1859 0.5598 0.137 0.23 0.06 0.21 0.55 0.2311 0.55 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.85 N 0.38 T -0.925 T 0.000 T 0.032 0.315 5.706 2.54 -0.015 2.644 5.843 0.314848 NA 1 0.251744 0.473445 NA 0.232 NA 9.6148894 691 7 37890267 37890267 G A exonic NME8 NA nonsynonymous SNV NME8:NM_016616:exon5:c.G128A:p.R43K exonic ENSG00000086288 NA nonsynonymous SNV ENSG00000086288:ENST00000440017:exon4:c.G128A:p.R43K,ENSG00000086288:ENST00000199447:exon5:c.G128A:p.R43K Score=533;Name=lod=195 NA 7p14.1 NA NA NA NA rs2722372 0.27 0.27 0.281 0.245208 0.2475 0.1815 0.2161 0.4092 0.1074 0.24 0.21 0.22 0.45 0.2301 0.45 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.54 N 4.61 T -0.955 T 0.000 T 0.165 -0.07 3.659 3.85 0.339 3.615 8.864 -0.069882 NA 1 0.243023 0.368588 NA 0.283 NA 9.6127104 691 21 31869286 31869286 T C exonic KRTAP19-4 NA nonsynonymous SNV KRTAP19-4:NM_181610:exon1:c.A143G:p.Y48C exonic ENSG00000186967 NA nonsynonymous SNV ENSG00000186967:ENST00000334058:exon1:c.A143G:p.Y48C NA NA 21q22.11 NA NA NA NA rs2298437 0.57 0.57 0.581 0.614217 0.5606 0.3194 0.6571 0.82 0.6646 0.54 0.33 0.67 0.84 0.5833 0.84 0 D 0.0 B 0.001 B . . 1.000 P . . 3.19 T -1.036 T 0.000 T 0.058 0.586 7.165 -4.2 -1.323 -1.290 4.858 0.586432 NA NA 0.57814 0.748071 NA 0.659 NA 9.6112934 691 12 65462623 65462623 A G exonic WIF1 NA synonymous SNV WIF1:NM_007191:exon4:c.T459C:p.D153D exonic ENSG00000156076 NA synonymous SNV ENSG00000156076:ENST00000546001:exon3:c.T273C:p.D91D,ENSG00000156076:ENST00000286574:exon4:c.T459C:p.D153D Score=586;Name=lod=321 NA 12q14.3 NA NA NA NA rs34105816 0.01 0.01 0.006 0.0109824 0.0179 NA 0.049 0.0008 0.002 0.02 NA 0.03 0.002 0.0168 0.03 . . . . . . . . 1.000 D . . . . -1.016 T 0.075 T . 0.949 8.87 3.15 0.477 -0.138 5.725 0.949111 NA NA 0.02093 0.003858 NA NA NA 9.6110366 691 5 162909716 162909716 C T exonic HMMR NA nonsynonymous SNV HMMR:NM_001142557:exon10:c.C1193T:p.A398V,HMMR:NM_012485:exon12:c.C1406T:p.A469V,HMMR:NM_001142556:exon13:c.C1454T:p.A485V,HMMR:NM_012484:exon13:c.C1451T:p.A484V exonic ENSG00000072571 NA nonsynonymous SNV ENSG00000072571:ENST00000432118:exon10:c.C1193T:p.A398V,ENSG00000072571:ENST00000353866:exon12:c.C1406T:p.A469V,ENSG00000072571:ENST00000358715:exon13:c.C1451T:p.A484V,ENSG00000072571:ENST00000393915:exon13:c.C1454T:p.A485V,ENSG00000072571:ENST00000416990:exon13:c.C1109T:p.A370V NA NA 5q34 NA NA NA NA rs299295 0.2 0.2 0.2 0.215655 0.2525 0.0724 0.1888 0.2905 0.2434 0.25 0.05 0.21 0.26 0.2326 0.29 1 T 0.0 B 0.0 B 0.339 N 1.000 P -1.7 N 3.83 T -0.957 T 0.000 T 0.035 -1.548 0.015 4.27 1.068 2.306 8.185 -1.548218 NA 1 0.237907 0.290059 NA 0.225 NA 9.6103264 691 7 140125750 140125750 T C exonic RAB19 NA nonsynonymous SNV RAB19:NM_001008749:exon4:c.T454C:p.Y152H exonic ENSG00000146955 NA nonsynonymous SNV ENSG00000146955:ENST00000356407:exon3:c.T454C:p.Y152H,ENSG00000146955:ENST00000537763:exon4:c.T454C:p.Y152H,ENSG00000146955:ENST00000275874:exon5:c.T595C:p.Y199H NA NA 7q34 NA NA Name=6 NA rs2948386 0.13 0.13 0.114 0.146366 0.2396 0.0704 0.1153 0.0356 0.3006 0.25 0.06 0.12 0.04 0.2189 0.27 . . 0.0 B 0.001 B 0.187 N 1.000 P -1.305 N -1.27 T -1.051 T 0.000 T 0.045 1.43 10.72 -6.44 -0.983 -0.209 19.431 1.430357 1.430357 0.49 0.267674 0.061053 NA 0.123 NA 9.6071594 691 14 104452640 104452640 G A exonic TDRD9 NA synonymous SNV TDRD9:NM_153046:exon8:c.G1098A:p.L366L exonic ENSG00000156414 NA synonymous SNV ENSG00000156414:ENST00000339063:exon8:c.G1098A:p.L366L,ENSG00000156414:ENST00000409874:exon8:c.G1098A:p.L366L Score=425;Name=lod=71 NA 14q32.33 Score=893;Name=V$RORA1_01 NA NA NA rs10143389 0.32 0.32 0.317 0.322085 0.3588 0.3343 0.3516 0.2731 0.317 0.36 0.32 0.33 0.27 0.3549 0.36 . . . . . . . . 0.000 P . . . . -0.967 T 0.000 T . 0.854 8.454 3.9 0.772 1.987 7.929 0.853663 NA NA 0.346977 0.300953 ID=COSM147851,COSM147850;OCCURENCE=1(stomach) 0.312 NA 9.6059896 691 18 61570529 61570529 C G exonic SERPINB2 NA nonsynonymous SNV SERPINB2:NM_002575:exon8:c.C1238G:p.S413C,SERPINB2:NM_001143818:exon9:c.C1238G:p.S413C exonic ENSG00000197632 NA nonsynonymous SNV ENSG00000197632:ENST00000299502:exon8:c.C1238G:p.S413C,ENSG00000197632:ENST00000457692:exon9:c.C1238G:p.S413C Score=399;Name=lod=56 NA 18q21.33 NA Name=Pol2(b) NA NA rs6104 0.33 0.33 0.326 0.349042 0.2296 0.499 0.3559 0.3669 0.2883 0.22 0.46 0.33 0.35 0.2811 0.46 1 T 0.003 B 0.005 B 0.008 N 0.000 P 0.475 N -1.87 D -1.004 T 0.000 T 0.034 -0.386 2.187 1.29 0.381 0.425 1.553 -0.3862 NA 1 0.217326 0.368588 NA 0.275 NA 9.6053074 692 13 31848657 31848657 C T exonic B3GALTL NA synonymous SNV B3GALTL:NM_194318:exon9:c.C672T:p.Y224Y exonic ENSG00000187676 NA synonymous SNV ENSG00000187676:ENST00000343307:exon9:c.C672T:p.Y224Y Score=456;Name=lod=95 NA 13q12.3 Score=760;Name=V$PPARA_01 NA Name=27 NA rs35019745 0.01 0.01 0.01 0.00559105 0.0219 NA 0.0043 NA 0.0031 0.02 NA 0.0028 NA 0.0174 0.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798008 NA NA 0.022791 0.004766 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082790.1;CLNDSDB=.;CLNDSDBID=. 9.6045756 692 7 897492 897492 A G exonic SUN1 NA synonymous SNV SUN1:NM_001171944:exon11:c.A1113G:p.T371T,SUN1:NM_025154:exon12:c.A1173G:p.T391T,SUN1:NM_001130965:exon13:c.A1422G:p.T474T exonic ENSG00000164828 NA synonymous SNV ENSG00000164828:ENST00000413514:exon9:c.A816G:p.T272T,ENSG00000164828:ENST00000429178:exon11:c.A1197G:p.T399T,ENSG00000164828:ENST00000452783:exon11:c.A1113G:p.T371T,ENSG00000164828:ENST00000389574:exon12:c.A1173G:p.T391T,ENSG00000164828:ENST00000425407:exon12:c.A1173G:p.T391T,ENSG00000164828:ENST00000401592:exon13:c.A1422G:p.T474T,ENSG00000164828:ENST00000405266:exon14:c.A1533G:p.T511T,ENSG00000164828:ENST00000456758:exon19:c.A1989G:p.T663T NA NA 7p22.3 NA NA Name=8 NA rs10950789 0.44 0.44 0.421 0.436901 0.3479 0.4821 0.4669 0.5144 0.3558 0.35 0.51 0.48 0.48 0.388 0.51 . . . . . . . . 1.000 P . . . . -0.907 T 0.000 T . 0.288 5.56 -6.38 -1.729 -0.960 0.219 0.288222 NA NA 0.326731 0.479971 NA 0.478 NA 9.6040356 692 21 31812772 31812772 C A exonic KRTAP15-1 NA nonsynonymous SNV KRTAP15-1:NM_181623:exon1:c.C127A:p.L43M exonic ENSG00000186970 NA nonsynonymous SNV ENSG00000186970:ENST00000334067:exon1:c.C127A:p.L43M Score=278;Name=lod=18 NA 21q22.11 NA NA NA NA rs2832873 0.53 0.53 0.525 0.554113 0.5736 0.2788 0.6427 0.6543 0.6196 0.55 0.3 0.65 0.67 0.5698 0.67 0.04 D 0.956 P 0.622 P 0.136 N 1.000 P 2.325 M 3.86 T -0.936 T 0.000 T 0.059 1.981 12.58 0.826 0.140 0.037 3.575 1.980915 1.980915 0.03 0.586395 0.644349 NA 0.659 NA 9.6035384 692 18 61570503 61570503 C G exonic SERPINB2 NA nonsynonymous SNV SERPINB2:NM_002575:exon8:c.C1212G:p.N404K,SERPINB2:NM_001143818:exon9:c.C1212G:p.N404K exonic ENSG00000197632 NA nonsynonymous SNV ENSG00000197632:ENST00000299502:exon8:c.C1212G:p.N404K,ENSG00000197632:ENST00000457692:exon9:c.C1212G:p.N404K NA NA 18q21.33 NA Name=Pol2(b) NA NA rs6103 0.33 0.33 0.328 0.349441 0.2296 0.499 0.3559 0.3676 0.2894 0.22 0.46 0.33 0.35 0.2829 0.46 0.75 T 0.0 B 0.001 B 0.215 N 1.000 P -0.12 N 2.76 T -0.960 T 0.000 T 0.018 -1.839 0.009 -2.38 -0.415 -1.506 4.321 -1.839191 NA 1 0.218256 0.368588 NA 0.283 NA 9.6025774 692 7 51111340 51111340 C T exonic COBL NA synonymous SNV COBL:NM_015198:exon8:c.G1146A:p.P382P exonic ENSG00000106078 NA synonymous SNV ENSG00000106078:ENST00000431948:exon7:c.G801A:p.P267P,ENSG00000106078:ENST00000445054:exon7:c.G822A:p.P274P,ENSG00000106078:ENST00000265136:exon8:c.G1146A:p.P382P,ENSG00000106078:ENST00000395542:exon10:c.G1392A:p.P464P NA NA 7p12.1 Score=882;Name=V$E47_02 NA NA NA rs61737951 0.01 0.01 0.007 0.00698882 0.0258 NA 0.0072 NA 0.0041 0.03 NA 0.01 NA 0.019 0.03 . . . . . . . . 1.000 N . . . . -1.089 T 0.013 T . 0.09 4.487 -10.0 -3.811 -4.607 1.727 0.090279 NA NA 0.021395 0.004766 NA 0.007 NA 9.6004716 692 14 25100282 25100282 A G exonic GZMB NA nonsynonymous SNV GZMB:NM_004131:exon5:c.T739C:p.Y247H exonic ENSG00000100453 NA nonsynonymous SNV ENSG00000100453:ENST00000216341:exon5:c.T739C:p.Y247H,ENSG00000100453:ENST00000382540:exon5:c.T604C:p.Y202H,ENSG00000100453:ENST00000382542:exon5:c.T841C:p.Y281H,ENSG00000100453:ENST00000415355:exon5:c.T703C:p.Y235H NA NA 14q12 NA Name=TCF4,FOXA1_(SC-101058),FOXA1_(C-20) Name=33 NA rs2236338 0.27 0.27 0.274 0.291933 0.2495 0.2986 0.2075 0.3298 0.3374 0.25 0.26 0.23 0.33 0.246 0.33 0.17 T 0.001 B 0.003 B 0.578 N 1.000 P 0.625 N -2.53 D -1.111 T 0.000 T 0.011 -0.736 0.858 -1.58 -0.409 -0.197 3.501 -0.736322 NA 0.15 0.238372 0.317975 ID=COSM147756;OCCURENCE=1(stomach) 0.275 NA 9.5994614 692 1 27676925 27676925 G A exonic SYTL1 NA synonymous SNV SYTL1:NM_001193308:exon10:c.G954A:p.K318K,SYTL1:NM_032872:exon10:c.G918A:p.K306K exonic ENSG00000142765 NA synonymous SNV ENSG00000142765:ENST00000543823:exon9:c.G954A:p.K318K,ENSG00000142765:ENST00000318074:exon10:c.G918A:p.K306K Score=412;Name=lod=63 NA 1p36.11 NA NA NA NA rs6702341 0.25 0.25 0.213 0.244808 0.3787 0.1786 0.2089 0.1392 0.3436 0.39 0.17 0.22 0.15 0.3132 0.39 . . . . . . . . 0.000 P . . . . -0.917 T 0.000 T . 1.546 11.12 3.87 2.155 0.998 6.072 1.546023 1.546023 NA 0.37593 0.169088 NA 0.225 NA 9.5988366 693 1 207881557 207881557 A G exonic CR1L NA nonsynonymous SNV CR1L:NM_175710:exon10:c.A1363G:p.I455V exonic ENSG00000197721 NA nonsynonymous SNV ENSG00000197721:ENST00000508064:exon10:c.A1363G:p.I455V NA NA 1q32.2 NA Name=AP-2gamma,STAT3,AP-2alpha Name=11 NA rs6683902 0.68 0.68 0.677 0.705272 0.5626 0.8819 0.4755 0.7753 0.7382 0.56 0.87 0.5 0.75 0.6086 0.87 0.72 T 0.0 B 0.0 B . . 1.000 P 0.77 N 1.91 T -0.993 T 0.000 T 0.025 -2.374 0.004 -3.34 -0.914 -2.039 3.512 -2.373647 NA NA 0.567242 0.725738 NA 0.565 NA 9.5948914 693 8 87519315 87519315 T G exonic RMDN1 NA nonsynonymous SNV RMDN1:NM_016033:exon2:c.A156C:p.K52N exonic ENSG00000176623 NA nonsynonymous SNV ENSG00000176623:ENST00000406452:exon2:c.A156C:p.K52N,ENSG00000176623:ENST00000430676:exon2:c.A156C:p.K52N,ENSG00000176623:ENST00000519966:exon2:c.A156C:p.K52N,ENSG00000176623:ENST00000521045:exon2:c.A24C:p.K8N,ENSG00000176623:ENST00000522804:exon2:c.A156C:p.K52N,ENSG00000176623:ENST00000523370:exon2:c.A24C:p.K8N,ENSG00000176623:ENST00000523911:exon2:c.A24C:p.K8N,ENSG00000176623:ENST00000524172:exon2:c.A24C:p.K8N Score=459;Name=lod=98 NA 8q21.3 NA NA NA NA rs6980476 0.17 0.17 0.153 0.153355 0.2515 0.0496 0.134 0.1725 0.1472 0.26 0.06 0.17 0.16 0.2168 0.27 . . 0.021 B 0.012 B 0.090 N 0.000 P 1.6 L 1.31 T -1.045 T 0.000 T 0.179 1.992 12.62 3.26 0.747 2.340 5.852 1.991542 1.991542 0.23 0.270233 0.204267 NA 0.159 NA 9.5948004 693 6 106967185 106967185 A C exonic AIM1 NA nonsynonymous SNV AIM1:NM_001624:exon2:c.A878C:p.Q293P exonic ENSG00000112297 NA nonsynonymous SNV ENSG00000112297:ENST00000369066:exon2:c.A878C:p.Q293P NA NA 6q21 NA NA Name=4 NA rs1159148 0.17 0.17 0.153 0.20647 0.2366 0.0536 0.1945 0.1974 0.3538 0.23 0.05 0.2 0.2 0.2424 0.26 0.35 T 0.0 B 0.0 B 0.155 N 1.000 P -0.69 N -0.54 T -1.106 T 0.055 T 0.035 -0.275 2.681 2.58 0.381 1.127 8.426 -0.275346 NA 0.21 0.259535 0.209941 NA 0.239 NA 9.5947984 693 1 24706269 24706269 A G exonic STPG1 NA synonymous SNV STPG1:NM_178122:exon4:c.T195C:p.N65N,STPG1:NM_001199012:exon5:c.T336C:p.N112N,STPG1:NM_001199013:exon5:c.T336C:p.N112N,STPG1:NM_001199014:exon6:c.T60C:p.N20N exonic ENSG00000001460 NA synonymous SNV ENSG00000001460:ENST00000438866:exon1:c.T45C:p.N15N,ENSG00000001460:ENST00000440416:exon3:c.T195C:p.N65N,ENSG00000001460:ENST00000003583:exon4:c.T195C:p.N65N,ENSG00000001460:ENST00000337248:exon5:c.T336C:p.N112N,ENSG00000001460:ENST00000374409:exon5:c.T336C:p.N112N NA NA 1p36.11 NA NA Name=6 NA rs1064842 0.43 0.43 0.414 0.419129 0.3618 0.4444 0.5101 0.4894 0.2924 0.38 0.44 0.48 0.49 0.3706 0.5 . . . . . . . . 1.000 P . . . . -1.122 T 0.000 T . -0.667 1.081 -7.34 -1.966 -1.203 18.125 -0.667099 NA NA 0.341395 0.495234 ID=COSM1340988,COSM1340987;OCCURENCE=1(large_intestine) 0.319 NA 9.5928716 693 17 7329632 7329632 T G exonic C17orf74 NA nonsynonymous SNV C17orf74:NM_175734:exon3:c.T322G:p.S108A exonic ENSG00000184560 NA nonsynonymous SNV ENSG00000184560:ENST00000333870:exon3:c.T322G:p.S108A NA NA 17p13.1 NA NA NA NA rs13290 0.36 0.36 0.299 0.345048 0.5984 0.0427 0.3732 0.2837 0.4591 0.6 0.03 0.42 0.31 0.5045 0.64 0.09 T 0.99 D 0.978 D 0.004 N 0.006 P 1.59 L 1.28 T -0.956 T 0.000 T 0.086 2.02 12.71 3.18 1.683 0.457 8.133 2.019575 2.019575 NA 0.640199 0.354946 NA 0.37 NA 9.5902344 693 15 66821250 66821250 A G exonic ZWILCH NA nonsynonymous SNV ZWILCH:NM_017975:exon11:c.A1030G:p.S344G exonic ENSG00000174442 NA nonsynonymous SNV ENSG00000174442:ENST00000535141:exon10:c.A688G:p.S230G,ENSG00000174442:ENST00000565627:exon10:c.A688G:p.S230G,ENSG00000174442:ENST00000307897:exon11:c.A1030G:p.S344G,ENSG00000174442:ENST00000446801:exon11:c.A688G:p.S230G Score=295;Name=lod=21 NA 15q22.31 NA NA NA NA rs11071896 0.16 0.16 0.136 0.181709 0.2535 0.1825 0.1585 0.0325 0.3252 0.25 0.13 0.21 0.02 0.2351 0.25 1 T 0.0 B 0.0 B 0.000 N 0.983 P -2.215 N 1.11 T -0.976 T 0.000 T 0.008 0.888 8.607 3.19 0.566 4.667 8.938 0.888157 NA 1 0.254827 0.072921 NA 0.21 NA 9.5899064 693 21 46271460 46271460 T C UTR3 PTTG1IP NM_004339:c.*36A>G NA NA exonic ENSG00000183255 NA nonsynonymous SNV ENSG00000183255:ENST00000445724:exon3:c.A251G:p.E84G NA NA 21q22.3 NA Name=USF-1 Name=3 NA rs2236442 0.07 0.07 0.063 0.0628994 0.0885 0.0625 0.0432 0.0514 0.0665 0.09 0.06 0.05 0.05 0.0788 0.11 0.04 D 0.914 P 0.254 B . . 1.000 N . . 0.9 T -1.107 T 0.003 T 0.058 2.012 12.69 0.454 -0.060 -0.542 4.840 2.012203 2.012203 0 0.079884 0.048797 ID=COSM149244;OCCURENCE=1(stomach) 0.167 NA 9.5861494 693 8 76468282 76468282 G A exonic HNF4G NA nonsynonymous SNV HNF4G:NM_004133:exon6:c.G681A:p.M227I exonic ENSG00000164749 NA nonsynonymous SNV ENSG00000164749:ENST00000396423:exon6:c.G681A:p.M227I,ENSG00000164749:ENST00000354370:exon7:c.G570A:p.M190I Score=603;Name=lod=377 NA 8q21.11 NA NA NA NA rs1805098 0.62 0.62 0.641 0.614816 0.5895 0.3919 0.4914 0.9508 0.5041 0.6 0.44 0.5 0.96 0.5803 0.96 0.19 T 0.001 B 0.017 B 0.154 N 0.473 P 0.975 L -3.95 D -0.977 T 0.000 T 0.037 1.523 11.04 2.52 0.295 -1.558 4.259 1.523031 1.523031 0.26 0.577674 0.889469 NA 0.551 NA 9.5858594 693 7 76991935 76991935 C T exonic GSAP NA nonsynonymous SNV GSAP:NM_017439:exon13:c.G914A:p.G305E exonic ENSG00000186088 NA nonsynonymous SNV ENSG00000186088:ENST00000257626:exon13:c.G914A:p.G305E NA NA 7q11.23 NA NA NA NA rs1527263 0.28 0.28 0.276 0.301917 0.2326 0.0883 0.219 0.5454 0.3231 0.24 0.09 0.25 0.59 0.2634 0.59 1 T 0.0 B 0.0 B 0.211 N 1.000 P -1.1 N 2.43 T -0.939 T 0.000 T 0.049 -1.816 0.009 4.5 0.999 1.184 5.787 -1.815517 NA 0.75 0.252326 0.496823 ID=COSM1452150;OCCURENCE=1(large_intestine) 0.275 NA 9.5850074 694 15 85383640 85383640 G A exonic ALPK3 NA nonsynonymous SNV ALPK3:NM_020778:exon5:c.G1736A:p.G579E exonic ENSG00000136383 NA nonsynonymous SNV ENSG00000136383:ENST00000258888:exon5:c.G1736A:p.G579E NA NA 15q25.3 Score=945;Name=V$USF_C NA NA NA rs3803405 0.16 0.16 0.147 0.137979 0.2575 0.1329 0.1643 0.0159 0.1667 0.26 0.14 0.2 0.01 0.222 0.27 0.14 T 0.197 B 0.092 B 0.382 N 1.000 P 0.975 L 0.31 T -1.053 T 0.000 T 0.218 2.831 15.43 2.68 1.163 0.123 6.531 2.831448 2.831448 0 0.270126 0.055202 NA 0.239 NA 9.5837074 694 21 44480616 44480616 G A exonic CBS NA synonymous SNV CBS:NM_000071:exon12:c.C1080T:p.A360A,CBS:NM_001178008:exon12:c.C1080T:p.A360A,CBS:NM_001178009:exon12:c.C1080T:p.A360A exonic ENSG00000160200 NA synonymous SNV ENSG00000160200:ENST00000544202:exon10:c.C816T:p.A272A,ENSG00000160200:ENST00000352178:exon12:c.C1080T:p.A360A,ENSG00000160200:ENST00000359624:exon12:c.C1080T:p.A360A,ENSG00000160200:ENST00000398158:exon12:c.C1080T:p.A360A,ENSG00000160200:ENST00000398165:exon12:c.C1080T:p.A360A,ENSG00000160200:ENST00000398168:exon12:c.C1080T:p.A360A NA NA 21q22.3 NA Name=Pol2-4H8,Pol2 NA NA rs1801181 0.33 0.33 0.313 0.295527 0.3857 0.5744 0.1888 0.0204 0.363 0.39 0.58 0.21 0.03 0.3382 0.58 . . . . . . . . 0.000 P . . . . -0.995 T 0.000 T . -0.52 1.626 -10.1 -2.547 -2.619 3.956 -0.520158 NA NA 0.359204 0.074444 NA 0.246 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000078107.1|RCV000124155.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.5835626 694 6 31124849 31124849 C T exonic CCHCR1 NA stopgain CCHCR1:NM_001105563:exon2:c.G234A:p.W78X,CCHCR1:NM_001105564:exon2:c.G234A:p.W78X exonic ENSG00000204536 NA stopgain ENSG00000204536:ENST00000396268:exon2:c.G234A:p.W78X,ENSG00000204536:ENST00000426967:exon2:c.G261A:p.W87X,ENSG00000204536:ENST00000451521:exon2:c.G234A:p.W78X Score=340;Name=lod=32 NA 6p21.33 NA NA NA NA rs3130453 0.46 0.46 0.432 0.469249 0.4612 0.3968 0.5202 0.4977 0.4775 0.47 0.35 0.52 0.5 0.4756 0.52 0.45 T . . . . . . 0.000 P . . . . . . . . . 6.046 37 3.71 1.298 0.244 6.222 6.045963 6.045963 NA 0.481728 0.49106 NA 0.478 NA 9.581472 695 1 85666156 85666156 T G exonic SYDE2 NA nonsynonymous SNV SYDE2:NM_032184:exon1:c.A524C:p.Q175P exonic ENSG00000097096 NA nonsynonymous SNV ENSG00000097096:ENST00000341460:exon1:c.A524C:p.Q175P NA NA 1p22.3 NA NA Name=46 NA rs12121540 0.3 0.3 0.246 0.304513 0.2376 0.4683 0.379 0.1543 0.3548 0.22 0.49 0.36 0.17 0.2861 0.49 0.71 T 0.0 B 0.001 B 0.261 N 1.000 P 0.11 N 3.32 T -0.928 T 0.002 T 0.033 -0.323 2.467 -9.1 -1.318 -0.785 1.917 -0.322733 NA 0.5 0.238354 0.162358 NA 0.181 NA 9.5712794 695 19 2223327 2223327 G A exonic DOT1L NA synonymous SNV DOT1L:NM_032482:exon25:c.G3438A:p.P1146P exonic ENSG00000104885 NA synonymous SNV ENSG00000104885:ENST00000457590:exon2:c.G78A:p.P26P,ENSG00000104885:ENST00000398665:exon25:c.G3438A:p.P1146P NA NA 19p13.3 Score=799;Name=V$OLF1_01 NA NA NA rs2286329 0.1 0.1 0.074 0.124002 0.0189 0.122 0.0692 0.2337 0.1247 0.02 0.15 0.08 0.2 0.0601 0.2 . . . . . . . . 0.000 P . . . . -1.117 T 0.000 T . -0.427 2.013 -10.0 -4.716 -3.325 5.132 -0.426659 NA NA 0.016735 0.201593 NA 0.087 NA 9.5709316 695 1 9323910 9323910 G A exonic H6PD NA nonsynonymous SNV H6PD:NM_004285:exon5:c.G1358A:p.R453Q exonic ENSG00000049239 NA nonsynonymous SNV ENSG00000049239:ENST00000377403:exon5:c.G1358A:p.R453Q,ENSG00000049239:ENST00000602477:exon5:c.G1391A:p.R464Q NA NA 1p36.22 NA NA NA NA rs6688832 0.36 0.36 0.347 0.389577 0.2485 0.4812 0.3732 0.4932 0.3119 0.25 0.45 0.34 0.46 0.2851 0.46 0.49 T 0.001 B 0.001 B 0.301 N 1.000 P 0.69 N -4.83 D -0.989 T 0.000 T 0.09 -1.189 0.078 -2.12 -0.530 -0.091 4.519 -1.18893 NA NA 0.229186 0.457785 NA 0.348 CLINSIG=unknown;CLNDBN=Deficiency_of_(R)-20-hydroxysteroid_dehydrogenase;CLNREVSTAT=single;CLNACC=RCV000017511.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C1291245:604931:ORPHA168588:124138004 9.5705474 695 3 12858028 12858028 T C exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon8:c.T1318C:p.S440P,CAND2:NM_001162499:exon10:c.T1597C:p.S533P exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon8:c.T1318C:p.S440P,ENSG00000144712:ENST00000456430:exon10:c.T1597C:p.S533P Score=523;Name=lod=178 NA 3p25.2 Score=865;Name=V$AP1_01 NA NA NA rs3732675 0.61 0.61 0.643 0.604034 0.6243 0.4365 0.4914 0.9584 0.3569 0.61 0.4 0.48 0.95 0.5541 0.95 1 T 0.0 B 0.0 B 0.001 N 0.000 P -1.025 N -0.06 T -0.947 T 0.000 T 0.061 -0.479 1.795 4.25 0.577 1.701 7.327 -0.478506 NA 1 0.586605 0.889423 ID=COSM1484577,COSM445535;OCCURENCE=1(breast) 0.674 NA 9.5683284 695 1 115168600 115168600 A T exonic DENND2C NA nonsynonymous SNV DENND2C:NM_198459:exon2:c.T6A:p.D2E,DENND2C:NM_001256404:exon4:c.T6A:p.D2E exonic ENSG00000175984 NA nonsynonymous SNV ENSG00000175984:ENST00000393276:exon2:c.T6A:p.D2E,ENSG00000175984:ENST00000393277:exon2:c.T6A:p.D2E,ENSG00000175984:ENST00000393274:exon4:c.T6A:p.D2E Score=617;Name=lod=428 NA 1p13.2 NA NA NA NA rs7541738 0.13 0.13 0.128 0.114217 0.2863 0.002 0.1441 0.0182 0.1616 0.29 NA 0.18 0.02 0.2032 0.29 0.18 T 0.084 B 0.024 B 0.024 N 0.390 P 1.355 L 3.61 T -0.982 T 0.008 T 0.095 2.013 12.69 4.54 2.187 0.645 1.817 2.012818 2.012818 0.2 0.275994 0.061507 NA 0.167 NA 9.5678394 695 9 117266965 117266965 C T exonic DFNB31 NA synonymous SNV DFNB31:NM_001173425:exon1:c.G117A:p.V39V,DFNB31:NM_015404:exon1:c.G117A:p.V39V exonic ENSG00000095397 NA synonymous SNV ENSG00000095397:ENST00000362057:exon1:c.G117A:p.V39V,ENSG00000095397:ENST00000374057:exon1:c.G117A:p.V39V Score=629;Name=lod=478 NA 9q32 Score=926;Name=V$MYB_Q6 Name=Sin3Ak-20,Pol2,E2F6,E2F6_(H-50) Name=94 NA rs2297815 0.27 0.27 0.272 0.255591 0.4016 0.1389 0.3256 0.2231 0.2198 0.41 0.15 0.32 0.17 0.3339 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.619851 1.619851 NA 0.365246 0.239645 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038862.2;CLNDSDB=.;CLNDSDBID=. 9.5659206 696 5 40955561 40955561 G C exonic C7 NA nonsynonymous SNV C7:NM_000587:exon10:c.G1166C:p.S389T exonic ENSG00000112936 NA nonsynonymous SNV ENSG00000112936:ENST00000313164:exon10:c.G1166C:p.S389T NA NA 5p13.1 NA NA Name=10 NA rs1063499 0.51 0.51 0.472 0.48123 0.5855 0.5218 0.5317 0.3048 0.5348 0.6 0.53 0.55 0.33 0.57 0.61 0.12 T 0.939 P 0.666 P 0.047 N 1.000 P 2.545 M -0.1 T -0.903 T 0.000 T 0.111 2.712 15.03 1.41 0.031 1.379 7.182 2.712446 2.712446 0.03 0.613185 0.344918 NA 0.543 NA 9.5646484 696 4 38879949 38879949 G A exonic FAM114A1 NA nonsynonymous SNV FAM114A1:NM_138389:exon3:c.G250A:p.G84R exonic ENSG00000197712 NA nonsynonymous SNV ENSG00000197712:ENST00000510213:exon2:c.G250A:p.G84R,ENSG00000197712:ENST00000358869:exon3:c.G250A:p.G84R Score=243;Name=lod=13 NA 4p14 NA NA NA NA rs11096964 0.23 0.23 0.221 0.203275 0.2475 0.0863 0.2061 0.3192 0.1196 0.27 0.08 0.22 0.35 0.248 0.35 0.36 T 0.09 B 0.018 B 0.002 N 0.073 P 1.955 M 2.9 T -0.941 T 0.000 T 0.221 2.644 14.8 1.88 0.255 1.477 5.853 2.643511 2.643511 0.02 0.273488 0.312528 NA 0.159 NA 9.5643454 696 1 29631909 29631909 A G exonic PTPRU NA nonsynonymous SNV PTPRU:NM_001195001:exon18:c.A2789G:p.N930S,PTPRU:NM_133177:exon18:c.A2789G:p.N930S,PTPRU:NM_133178:exon18:c.A2789G:p.N930S,PTPRU:NM_005704:exon19:c.A2819G:p.N940S exonic ENSG00000060656 NA nonsynonymous SNV ENSG00000060656:ENST00000323874:exon18:c.A2789G:p.N930S,ENSG00000060656:ENST00000356870:exon18:c.A2789G:p.N930S,ENSG00000060656:ENST00000373779:exon18:c.A2789G:p.N930S,ENSG00000060656:ENST00000428026:exon18:c.A2789G:p.N930S,ENSG00000060656:ENST00000460170:exon18:c.A2789G:p.N930S,ENSG00000060656:ENST00000345512:exon19:c.A2819G:p.N940S Score=578;Name=lod=298 NA 1p35.3 NA NA NA NA rs2235937 0.31 0.31 0.287 0.336462 0.2425 0.4851 0.3775 0.2209 0.407 0.23 0.48 0.31 0.22 0.2945 0.48 . . 0.0 B 0.001 B 0.001 D 0.904 P 0.015 N 1.62 T -0.902 T 0.000 T 0.078 -0.431 1.995 1.77 0.386 2.492 6.934 -0.43079 NA 0.56 0.232791 0.225374 ID=COSM146456;OCCURENCE=1(stomach) 0.181 NA 9.5635424 696 11 57381989 57381989 G A exonic SERPING1 NA nonsynonymous SNV SERPING1:NM_001032295:exon7:c.G1438A:p.V480M,SERPING1:NM_000062:exon8:c.G1438A:p.V480M exonic ENSG00000149131 NA nonsynonymous SNV ENSG00000149131:ENST00000378324:exon7:c.G1282A:p.V428M,ENSG00000149131:ENST00000403558:exon7:c.G1567A:p.V523M,ENSG00000149131:ENST00000278407:exon8:c.G1438A:p.V480M,ENSG00000149131:ENST00000340687:exon8:c.G1327A:p.V443M,ENSG00000149131:ENST00000378323:exon8:c.G1453A:p.V485M Score=512;Name=lod=160 NA 11q12.1 NA NA NA NA rs4926 0.17 0.17 0.174 0.149561 0.2664 0.0942 0.1657 0.0855 0.1616 0.26 0.11 0.19 0.09 0.2231 0.28 0.07 T 0.048 B 0.034 B 0.026 N 1.000 P 1.425 L -1.94 D -0.970 T 0.000 T 0.221 1.571 11.21 -0.867 -0.365 -1.524 20.931 1.570632 1.570632 0.02 0.280843 0.106315 NA 0.08 NA 9.5629904 696 4 38880046 38880046 T C exonic FAM114A1 NA nonsynonymous SNV FAM114A1:NM_138389:exon3:c.T347C:p.L116P exonic ENSG00000197712 NA nonsynonymous SNV ENSG00000197712:ENST00000510213:exon2:c.T347C:p.L116P,ENSG00000197712:ENST00000358869:exon3:c.T347C:p.L116P NA NA 4p14 NA NA NA NA rs11555334 0.23 0.23 0.214 0.202875 0.2475 0.0863 0.2061 0.3192 0.1176 0.27 0.08 0.22 0.35 0.2547 0.35 0.31 T 0.0 B 0.0 B 0.570 N 0.000 P -1.085 N 2.96 T -0.931 T 0.000 T 0.337 -0.655 1.123 -9.46 -2.805 -2.405 7.574 -0.654738 NA 0.33 0.26829 0.308797 NA 0.181 NA 9.5628434 696 5 35874575 35874575 C T exonic IL7R NA nonsynonymous SNV IL7R:NM_002185:exon6:c.C731T:p.T244I exonic ENSG00000168685 NA nonsynonymous SNV ENSG00000168685:ENST00000303115:exon6:c.C731T:p.T244I NA Name=Type 1 diabetes,Multiple sclerosis 5p13.2 NA NA NA NA rs6897932 0.19 0.19 0.162 0.172524 0.2714 0.1687 0.183 0.0658 0.2117 0.28 0.18 0.2 0.07 0.2327 0.28 0.87 T 0.0 B 0.001 B 0.188 N 1.000 P 0.605 N -3.91 D -0.806 T 0.000 T 0.073 0.602 7.247 -2.49 -0.378 -0.450 7.369 0.602421 NA 0.78 0.267442 0.10985 ID=COSM132904;OCCURENCE=1(stomach),1(haematopoietic_and_lymphoid_tissue) 0.21 NA 9.5617914 696 11 72408055 72408055 G C exonic ARAP1 NA nonsynonymous SNV ARAP1:NM_001135190:exon19:c.C2221G:p.Q741E,ARAP1:NM_015242:exon20:c.C2404G:p.Q802E,ARAP1:NM_001040118:exon22:c.C3139G:p.Q1047E exonic ENSG00000186635 NA nonsynonymous SNV ENSG00000186635:ENST00000393605:exon17:c.C2419G:p.Q807E,ENSG00000186635:ENST00000429686:exon19:c.C2221G:p.Q741E,ENSG00000186635:ENST00000334211:exon20:c.C2404G:p.Q802E,ENSG00000186635:ENST00000426523:exon20:c.C2404G:p.Q802E,ENSG00000186635:ENST00000455638:exon20:c.C3139G:p.Q1047E,ENSG00000186635:ENST00000359373:exon22:c.C3139G:p.Q1047E,ENSG00000186635:ENST00000393609:exon22:c.C3139G:p.Q1047E NA NA 11q13.4 NA NA NA NA rs56200889 0.23 0.23 0.203 0.249201 0.2624 0.2431 0.2147 0.2194 0.3067 0.27 0.23 0.2 0.19 0.2606 0.27 0.02 D 0.052 B 0.115 B 0.005 N 1.000 P 1.23 L 2.19 T -1.015 T 0.000 T 0.264 2.158 13.17 4.43 2.501 0.552 9.477 2.158091 2.158091 0.08 0.248893 0.209472 ID=COSM429808,COSM429807;OCCURENCE=1(breast) 0.152 NA 9.5614404 696 9 37489378 37489378 C T exonic POLR1E NA synonymous SNV POLR1E:NM_022490:exon4:c.C324T:p.N108N exonic ENSG00000137054 NA nonsynonymous SNV ENSG00000137054:ENST00000442009:exon4:c.C20T:p.T7I Score=519;Name=lod=171 NA 9p13.2 NA NA NA NA rs11542231 0.07 0.07 0.06 0.0656949 0.1571 0.002 0.0965 0.0053 0.0971 0.15 0.0017 0.12 0.01 0.1208 0.16 0.23 T 0.002 B 0.003 B . . 0.000 P . . 1.96 T -1.039 T 0.000 T . 3.612 18.38 4.37 1.236 0.633 6.019 3.611716 3.611716 0 0.162093 0.032456 NA 0.123 NA 9.560007 696 19 9059307 9059307 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G28139A:p.G9380D exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G28139A:p.G9380D NA NA 19p13.2 NA NA NA NA rs12461695 0.15 0.15 0.133 0.145966 0.0865 0.2669 0.1787 0.0855 0.1411 0.09 0.3 0.15 0.08 0.1126 0.3 0 D 0.502 P 0.273 B . . . . 0.975 L 1.85 T -0.950 T 0.000 T 0.136 0.039 4.216 0.092 0.046 -2.733 3.638 0.038924 NA 0.22 0.07683 0.095873 NA 0.145 NA 9.5574034 696 4 2744087 2744087 G A exonic TNIP2 NA nonsynonymous SNV TNIP2:NM_001161527:exon6:c.C866T:p.A289V,TNIP2:NM_024309:exon6:c.C1187T:p.A396V exonic ENSG00000168884 NA nonsynonymous SNV ENSG00000168884:ENST00000503235:exon5:c.C938T:p.A313V,ENSG00000168884:ENST00000315423:exon6:c.C1187T:p.A396V,ENSG00000168884:ENST00000510267:exon6:c.C866T:p.A289V NA NA 4p16.3 Score=878;Name=V$CP2_01 NA Name=2 NA rs2269495 0.36 0.36 0.33 0.342851 0.4165 0.3879 0.5663 0.0651 0.4376 0.44 0.41 0.52 0.09 0.4335 0.52 0.06 T 0.617 P 0.173 B 0.943 N 1.000 P 2.015 M 1.12 T -0.926 T 0.000 T 0.048 3.521 17.98 1.99 0.536 0.476 12.816 3.520625 3.520625 0.09 0.427209 0.142533 ID=COSM447768;OCCURENCE=1(breast) 0.399 NA 9.5561244 697 5 22078584 22078584 C T exonic CDH12 NA nonsynonymous SNV CDH12:NM_004061:exon5:c.G202A:p.V68M exonic ENSG00000154162 NA nonsynonymous SNV ENSG00000154162:ENST00000522262:exon3:c.G202A:p.V68M,ENSG00000154162:ENST00000504376:exon4:c.G202A:p.V68M,ENSG00000154162:ENST00000382254:exon5:c.G202A:p.V68M Score=662;Name=lod=656 NA 5p14.3 NA NA NA NA rs4371716 0.32 0.32 0.374 0.36222 0.2396 0.1438 0.2824 0.6755 0.3466 0.24 0.15 0.27 0.69 0.2988 0.69 0.36 T 0.0 B 0.001 B 0.000 N 1.000 P -1.115 N 9.26 T -1.103 T 0.000 T 0.114 2.566 14.54 5.5 0.931 5.801 11.527 2.565803 2.565803 0.31 0.240465 0.620064 NA 0.391 NA 9.5544684 697 8 18257854 18257854 T C exonic NAT2 NA nonsynonymous SNV NAT2:NM_000015:exon2:c.T341C:p.I114T exonic ENSG00000156006 NA nonsynonymous SNV ENSG00000156006:ENST00000286479:exon2:c.T341C:p.I114T Score=243;Name=lod=13 NA 8p22 NA NA NA NA rs1801280 0.3 0.3 0.261 0.292732 0.4493 0.0377 0.3617 0.292 0.3466 0.45 0.03 0.38 0.31 0.3846 0.45 0.06 T 0.37 B 0.5 P 0.009 N 0.922 P 1.61 L 4.26 T -0.928 T 0.000 T 0.257 0.992 9.05 0.537 0.102 3.744 4.753 0.99186 NA 0.08 0.445465 0.297549 NA 0.29 CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=single;CLNACC=RCV000000759.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005 9.5539684 697 14 38061742 38061742 C T exonic FOXA1 NA nonsynonymous SNV FOXA1:NM_004496:exon2:c.G247A:p.A83T exonic ENSG00000129514 NA nonsynonymous SNV ENSG00000129514:ENST00000250448:exon2:c.G247A:p.A83T,ENSG00000129514:ENST00000540786:exon2:c.G148A:p.A50T Score=313;Name=lod=25 NA 14q21.1 NA Name=Pol2 NA NA rs7144658 0.63 0.63 0.601 0.583067 0.5825 0.8442 0.6614 0.3714 0.545 0.59 0.87 0.64 0.4 0.6084 0.87 0.54 T 0.009 B 0.013 B 0.068 N 0.021 P 0.9 L 2.36 T -1.032 T 0.000 T 0.011 2.77 15.22 2.96 0.784 1.052 5.555 2.770271 2.770271 0.02 0.589446 0.441163 NA 0.464 NA 9.5529874 697 15 89417238 89417238 A G exonic ACAN NA nonsynonymous SNV ACAN:NM_013227:exon17:c.A7499G:p.Q2500R exonic ENSG00000157766 NA nonsynonymous SNV ENSG00000157766:ENST00000559004:exon16:c.A7385G:p.Q2462R,ENSG00000157766:ENST00000561243:exon16:c.A7499G:p.Q2500R,ENSG00000157766:ENST00000439576:exon17:c.A7499G:p.Q2500R Score=599;Name=lod=361 NA 15q26.1 NA NA NA NA rs1126823 0.36 0.36 0.366 0.406749 0.2366 0.2639 0.2939 0.7557 0.3374 0.22 0.25 0.32 0.72 0.2928 0.72 1 T 0.001 B 0.001 B 0.011 N 0.000 P . . -0.14 T -0.938 T 0.000 T 0.252 -0.064 3.69 2.92 0.591 1.990 11.127 -0.063804 NA 1 0.251057 0.678901 NA 0.464 NA 9.5528764 697 6 30314567 30314567 C A exonic RPP21,TRIM39-RPP21 NA nonsynonymous SNV RPP21:NM_001199120:exon5:c.C469A:p.Q157K,RPP21:NM_024839:exon5:c.C445A:p.Q149K,TRIM39-RPP21:NM_001199119:exon10:c.C1492A:p.Q498K exonic ENSG00000241370,ENSG00000248167 NA nonsynonymous SNV ENSG00000241370:ENST00000428040:exon4:c.C514A:p.Q172K,ENSG00000241370:ENST00000433076:exon5:c.C469A:p.Q157K,ENSG00000241370:ENST00000442966:exon5:c.C445A:p.Q149K,ENSG00000248167:ENST00000513556:exon10:c.C1228A:p.Q410K NA NA 6p22.1 NA NA NA NA rs974963 0.32 0.32 0.291 0.372604 0.2435 0.505 0.4496 0.3018 0.41 0.21 0.45 0.37 0.29 0.2973 0.45 0 D 0.003 B 0.006 B 0.106 N 1.000 P 0.55 N 1.52 T -1.082 T 0.034 T 0.081 1.21 9.914 3.1 0.743 1.778 11.662 1.210278 NA 0.37 0.241602 0.277631 NA NA NA 9.5509314 697 3 39307256 39307256 C T exonic CX3CR1 NA nonsynonymous SNV CX3CR1:NM_001171171:exon2:c.G745A:p.V249I,CX3CR1:NM_001171172:exon2:c.G745A:p.V249I,CX3CR1:NM_001171174:exon2:c.G841A:p.V281I,CX3CR1:NM_001337:exon2:c.G745A:p.V249I exonic ENSG00000168329 NA nonsynonymous SNV ENSG00000168329:ENST00000358309:exon2:c.G841A:p.V281I,ENSG00000168329:ENST00000399220:exon2:c.G745A:p.V249I,ENSG00000168329:ENST00000541347:exon2:c.G745A:p.V249I,ENSG00000168329:ENST00000542107:exon2:c.G745A:p.V249I NA NA 3p22.2 NA NA NA NA rs3732379 0.17 0.17 0.153 0.144369 0.2853 0.0278 0.2378 0.0893 0.1278 0.28 0.03 0.26 0.11 0.2209 0.28 1 T 0.033 B 0.018 B 0.074 N 1.000 P 0.035 N -0.4 T -1.059 T 0.000 T 0.1 -1.864 0.008 -2.32 -0.555 -1.393 12.312 -1.863526 NA 0.85 0.276284 0.133975 NA 0.203 CLINSIG=other|pathogenic|other|other;CLNDBN=Human_immunodeficiency_virus_type_1\x2c_rapid_progression_to_AIDS|Coronary_artery_disease\x2c_resistance_to|Age-related_macular_degeneration_12|MACULAR_DEGENERATION\x2c_AGE-RELATED\x2c_12\x2c_SUSCEPTIBILITY_TO;CLNREVSTAT=single|single|single|single;CLNACC=RCV000008629.3|RCV000008630.3|RCV000022393.1|RCV000023109.3;CLNDSDB=.|.|MedGen:OMIM|.;CLNDSDBID=.|.|C3151079:613784|. 9.5508494 697 5 5146395 5146395 A G exonic ADAMTS16 NA nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.A328G:p.M110V exonic ENSG00000145536 NA nonsynonymous SNV ENSG00000145536:ENST00000274181:exon3:c.A328G:p.M110V,ENSG00000145536:ENST00000511368:exon3:c.A328G:p.M110V NA NA 5p15.32 NA Name=Pol2-4H8 NA NA rs1863968 0.46 0.46 0.468 0.482827 0.6133 0.4286 0.4035 0.3525 0.637 0.6 0.4 0.46 0.34 0.5537 0.62 0.02 D 0.005 B 0.004 B 0.022 N 0.999 P 1.4 L 3.48 T -0.902 T 0.000 T 0.062 1.049 9.286 -11.5 -2.247 -1.137 8.248 1.049358 NA 0.07 0.617576 0.414824 NA 0.428 NA 9.5487574 697 16 57071113 57071113 T C exonic NLRC5 NA synonymous SNV NLRC5:NM_032206:exon14:c.T2718C:p.S906S exonic ENSG00000140853 NA synonymous SNV ENSG00000140853:ENST00000538453:exon3:c.T171C:p.S57S,ENSG00000140853:ENST00000543030:exon8:c.T615C:p.S205S,ENSG00000140853:ENST00000538110:exon10:c.T1239C:p.S413S,ENSG00000140853:ENST00000539144:exon13:c.T2718C:p.S906S,ENSG00000140853:ENST00000262510:exon15:c.T2718C:p.S906S,ENSG00000140853:ENST00000308149:exon15:c.T2718C:p.S906S,ENSG00000140853:ENST00000436936:exon15:c.T2718C:p.S906S Score=352;Name=lod=36 NA 16q13 NA NA Name=9 NA rs1684579 0.5 0.5 0.613 0.576278 0.7455 0.3958 0.6081 0.6135 0.5153 0.6 0.37 0.57 0.45 0.6585 0.71 . . . . . . . . 0.000 P . . . . . . . . . -0.547 1.52 -4.08 -1.299 -2.080 14.812 -0.547262 NA NA 0.713953 0.634213 ID=COSM148084;OCCURENCE=1(stomach) NA NA 9.5487136 697 17 15496730 15496730 A G exonic CDRT1 NA nonsynonymous SNV CDRT1:NM_006382:exon11:c.T1927C:p.F643L exonic ENSG00000241322 NA nonsynonymous SNV ENSG00000241322:ENST00000354433:exon4:c.T427C:p.F143L,ENSG00000241322:ENST00000395906:exon11:c.T1927C:p.F643L Score=625;Name=lod=464 NA 17p12 NA NA NA NA rs8078150 0.34 0.34 0.307 0.360623 0.2346 0.3819 0.33 0.4675 0.3456 0.25 0.37 0.31 0.46 0.2966 0.46 . . 0.0 B 0.0 B . . 0.000 P -1.845 N 2.3 T -0.939 T 0.000 T 0.09 0.007 4.048 2.47 0.301 2.533 4.283 0.006554 NA 1 0.254302 0.447571 NA 0.377 NA 9.5478314 697 12 92818482 92818482 C T exonic CLLU1 NA nonsynonymous SNV CLLU1:NM_001025233:exon1:c.C26T:p.S9F exonic ENSG00000257127 NA nonsynonymous SNV ENSG00000257127:ENST00000378485:exon1:c.C26T:p.S9F NA NA 12q22 NA Name=STAT3,c-Fos Name=88 NA rs12580153 0.19 0.19 0.158 0.163738 0.2793 0.1379 0.1787 0.0658 0.1933 0.27 0.15 0.2 0.09 0.2388 0.27 0 D . . . . . . 1.000 P 0 N 0.72 T -1.004 T 0.000 T 0.053 -0.392 2.161 0.23 0.039 -0.423 2.744 -0.392163 NA NA 0.268308 0.089139 NA 0.109 NA 9.5469254 697 20 31688241 31688241 T C exonic BPIFB4 NA nonsynonymous SNV BPIFB4:NM_182519:exon12:c.T1579C:p.F527L exonic ENSG00000186191 NA nonsynonymous SNV ENSG00000186191:ENST00000375483:exon12:c.T1579C:p.F527L Score=333;Name=lod=30 NA 20q11.21 NA NA NA NA rs11699009 0.51 0.51 0.525 0.515775 0.6054 0.247 0.5288 0.6755 0.4755 0.6 0.24 0.55 0.67 0.5666 0.68 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.7 N 3.2 T -0.988 T 0.000 T 0.103 -0.758 0.793 5.77 1.476 1.524 11.036 -0.75831 NA 1 0.614651 0.67635 ID=COSM1685483;OCCURENCE=1(skin) 0.522 NA 9.5466824 697 20 10030188 10030188 T A exonic ANKEF1 NA nonsynonymous SNV ANKEF1:NM_198798:exon6:c.T971A:p.L324Q,ANKEF1:NM_022096:exon7:c.T971A:p.L324Q exonic ENSG00000132623 NA nonsynonymous SNV ENSG00000132623:ENST00000378380:exon6:c.T971A:p.L324Q,ENSG00000132623:ENST00000378392:exon7:c.T971A:p.L324Q NA NA 20p12.2 NA NA Name=2 NA rs652633 0.18 0.18 0.189 0.197684 0.2744 0.0069 0.1571 0.2685 0.2485 0.27 0.01 0.18 0.24 0.2316 0.28 0.29 T 0.003 B 0.005 B 0.203 N 1.000 P 1.155 L -0.32 T -1.070 T 0.000 T 0.219 -0.067 3.673 3.19 1.044 -0.618 3.429 -0.067203 NA 0.07 0.281047 0.256015 NA 0.196 NA 9.5462864 698 19 49339098 49339098 T C exonic HSD17B14 NA nonsynonymous SNV HSD17B14:NM_016246:exon2:c.A91G:p.N31D exonic ENSG00000087076 NA nonsynonymous SNV ENSG00000087076:ENST00000263278:exon2:c.A91G:p.N31D,ENSG00000087076:ENST00000599157:exon2:c.A91G:p.N31D NA NA 19q13.33 Score=836;Name=V$GR_Q6 Name=c-Myc,ZBTB7A_(SC-34508),ZEB1_(SC-25388),NFKB,PAX5-C20,CTCF_(C-20),USF-1,TCF12,JunD,RFX5_(N-494),CTCF_(SC-5916),NANOG_(SC-33759),Pol2-4H8,ZNF263,Max,ELF1_(SC-631),Rad21,Oct-2,CTCF,RXRA,GTF2F1_(RAP-74),Znf143_(16618-1-AP),CTCFL_(SC-98982),POU2F2,GABP,USF2,ATF3,PU.1,Pol2,SMC3_(ab9263),BCLAF1_(M33-P5B11),YY1_(C-20),IRF4_(M-17),eGFP-JunD Name=146 NA rs8110220 0.3 0.3 0.307 0.34385 0.2674 0.0893 0.2867 0.6165 0.3569 0.26 0.12 0.32 0.58 0.274 0.58 0.41 T 0.0 B 0.0 B 0.755 N 1.000 P -0.335 N 2.03 T -0.950 T 0.000 T 0.038 -1.452 0.019 -1.77 -0.518 -0.043 4.057 -1.451578 NA 0.55 0.247267 0.539719 NA 0.428 NA 9.5446664 698 2 54482964 54482964 C T exonic TSPYL6 NA nonsynonymous SNV TSPYL6:NM_001003937:exon1:c.G325A:p.G109S exonic ENSG00000178021 NA nonsynonymous SNV ENSG00000178021:ENST00000317802:exon1:c.G325A:p.G109S NA NA 2p16.2 NA NA NA NA rs843704 0.24 0.24 0.209 0.270168 0.2624 0.2966 0.1902 0.2171 0.3793 0.27 0.24 0.2 0.22 0.272 0.27 0.43 T 0.065 B 0.007 B . . 1.000 P 0.97 L 2.16 T -0.936 T 0.000 T 0.007 0.19 5.023 -2.31 -1.916 -0.965 2.536 0.189912 NA NA 0.255842 0.220117 ID=COSM148855;OCCURENCE=1(stomach) 0.254 NA 9.5430914 698 8 22021037 22021037 C A exonic SFTPC NA nonsynonymous SNV SFTPC:NM_001172357:exon4:c.C413A:p.T138N,SFTPC:NM_001172410:exon4:c.C413A:p.T138N,SFTPC:NM_003018:exon4:c.C413A:p.T138N exonic ENSG00000168484 NA nonsynonymous SNV ENSG00000168484:ENST00000520605:exon3:c.C254A:p.T85N,ENSG00000168484:ENST00000523296:exon3:c.C254A:p.T85N,ENSG00000168484:ENST00000524255:exon3:c.C254A:p.T85N,ENSG00000168484:ENST00000318561:exon4:c.C413A:p.T138N,ENSG00000168484:ENST00000437090:exon4:c.C413A:p.T138N,ENSG00000168484:ENST00000521315:exon4:c.C413A:p.T138N,ENSG00000168484:ENST00000522109:exon4:c.C413A:p.T138N Score=448;Name=lod=88 NA 8p21.3 NA NA NA NA rs4715 0.21 0.21 0.173 0.197484 0.2644 0.2688 0.2507 0.0318 0.2413 0.27 0.26 0.26 0.04 0.2523 0.27 0.09 T 0.949 P 0.761 P 0.148 N 1.000 P . . -1.3 T -1.143 T 0.000 T 0.147 3.74 18.99 2.47 0.200 0.920 7.539 3.740275 3.740275 0.07 0.27447 0.062081 NA 0.246 NA 9.5421634 698 16 68057096 68057096 T C exonic DDX28 NA nonsynonymous SNV DDX28:NM_018380:exon1:c.A10G:p.T4A exonic ENSG00000182810 NA nonsynonymous SNV ENSG00000182810:ENST00000332395:exon1:c.A10G:p.T4A NA NA 16q22.1 NA Name=Max,GR,FOXA1_(SC-101058),ELF1_(SC-631),FOXA2_(SC-6554),HNF4G_(SC-6558),Oct-2,p300,RXRA,CEBPB,GTF2F1_(RAP-74),TAF1,MafK_(SC-477),POU2F2,ZBTB33,Pol2,ATF3,Mxi1_(bHLH),SP1,NRSF,Pol2(phosphoS2),TCF4,MEF2C_(SC-13268),HNF4A,YY1_(C-20),BRCA1_(C-1863),TAF7_(SQ-8),eGFP-JunD,IRF4_(M-17),TR4,USF1_(SC-8983),CCNT2,c-Myc,HEY1,NFKB,PAX5-C20,SRF,GRp20,SIX5,USF-1,TBP,Pol2(b),JunD,FOXA1_(C-20),RFX5_(N-494),YY1,HA-E2F1,Sin3Ak-20,c-Jun,ZNF263,Pol2-4H8 Name=148 NA rs237831 0.96 0.96 0.956 0.972843 0.9245 1 0.9539 0.9955 0.9775 0.92 1 0.94 0.99 0.9424 1 1 T 0.0 B 0.0 B 0.030 N 1.000 P 0 N 4.15 T -0.949 T 0.000 T 0.042 -0.475 1.812 -5.55 -1.490 -1.874 0.221 -0.474531 NA 1 0.925962 0.988439 NA 0.964 NA 9.5404714 699 16 3406626 3406626 G A exonic OR2C1 NA nonsynonymous SNV OR2C1:NM_012368:exon1:c.G686A:p.R229H exonic ENSG00000168158 NA nonsynonymous SNV ENSG00000168158:ENST00000304936:exon1:c.G686A:p.R229H NA NA 16p13.3 NA NA NA NA rs11648783 0.26 0.26 0.255 0.252596 0.2614 0.1429 0.2421 0.3389 0.2474 0.27 0.14 0.25 0.37 0.2629 0.37 0.03 D 0.009 B 0.005 B 0.343 N 1.000 P 0.285 N 1.09 T -0.950 T 0.000 T 0.049 0.103 4.555 -5.29 -0.962 -0.888 2.626 0.103149 NA 0.04 0.275116 0.346381 NA 0.319 NA 9.5339174 699 12 3788145 3788145 C T exonic EFCAB4B NA nonsynonymous SNV EFCAB4B:NM_001144958:exon6:c.G460A:p.E154K,EFCAB4B:NM_032680:exon6:c.G460A:p.E154K exonic ENSG00000130038 NA nonsynonymous SNV ENSG00000130038:ENST00000252322:exon6:c.G460A:p.E154K,ENSG00000130038:ENST00000440314:exon6:c.G460A:p.E154K,ENSG00000130038:ENST00000444507:exon6:c.G460A:p.E154K NA NA 12p13.32 Score=681;Name=V$PPARG_02 NA NA NA rs242018 0.22 0.22 0.205 0.222444 0.2565 0.1319 0.33 0.1747 0.2689 0.26 0.14 0.33 0.18 0.2696 0.33 0.25 T 0.039 B 0.003 B 0.172 N 1.000 P 2.215 M 2.41 T -1.046 T 0.000 T 0.074 0.384 6.084 1.51 -0.025 1.008 4.976 0.383782 NA 0.24 0.275581 0.187245 NA 0.232 NA 9.5316524 699 3 62578336 62578336 C T exonic CADPS NA synonymous SNV CADPS:NM_003716:exon7:c.G1413A:p.A471A,CADPS:NM_183393:exon7:c.G1413A:p.A471A,CADPS:NM_183394:exon7:c.G1413A:p.A471A exonic ENSG00000163618 NA synonymous SNV ENSG00000163618:ENST00000283269:exon7:c.G1413A:p.A471A,ENSG00000163618:ENST00000357948:exon7:c.G1413A:p.A471A,ENSG00000163618:ENST00000383710:exon7:c.G1413A:p.A471A Score=525;Name=lod=182 NA 3p14.2 Score=755;Name=V$SEF1_C Name=NFKB Name=5 NA rs17066673 0.06 0.06 0.065 0.0652955 0.0547 0.0734 0.049 0.0756 0.0654 0.05 0.06 0.04 0.08 0.0443 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.113052 3.113052 NA 0.036512 0.071039 NA 0.058 NA 9.5311546 699 10 24813454 24813454 G A exonic KIAA1217 NA nonsynonymous SNV KIAA1217:NM_001098501:exon12:c.G2554A:p.A852T,KIAA1217:NM_019590:exon13:c.G2659A:p.A887T,KIAA1217:NM_001098500:exon14:c.G2419A:p.A807T exonic ENSG00000120549 NA nonsynonymous SNV ENSG00000120549:ENST00000307544:exon8:c.G1708A:p.A570T,ENSG00000120549:ENST00000376451:exon8:c.G1708A:p.A570T,ENSG00000120549:ENST00000396445:exon8:c.G1708A:p.A570T,ENSG00000120549:ENST00000396446:exon8:c.G1708A:p.A570T,ENSG00000120549:ENST00000438429:exon11:c.G2104A:p.A702T,ENSG00000120549:ENST00000376452:exon12:c.G2554A:p.A852T,ENSG00000120549:ENST00000376456:exon12:c.G2554A:p.A852T,ENSG00000120549:ENST00000458595:exon12:c.G2554A:p.A852T,ENSG00000120549:ENST00000376454:exon13:c.G2659A:p.A887T,ENSG00000120549:ENST00000376462:exon14:c.G2419A:p.A807T NA NA 10p12.1 NA NA NA NA rs10828663 0.22 0.22 0.222 0.1875 0.2893 0.1081 0.2147 0.2133 0.1104 0.28 0.11 0.23 0.23 0.2263 0.29 0.58 T 0.437 B 0.034 B 0.003 N 1.000 P 1.67 L 0.74 T -1.013 T 0.000 T 0.3 1.997 12.63 4.61 1.336 4.371 14.350 1.99666 1.99666 0.05 0.28814 0.236723 ID=COSM1347282;OCCURENCE=1(large_intestine) 0.275 NA 9.5295934 699 17 42987524 42987524 T C exonic GFAP NA nonsynonymous SNV GFAP:NM_001131019:exon8:c.A1276G:p.T426A exonic ENSG00000131095 NA nonsynonymous SNV ENSG00000131095:ENST00000586125:exon2:c.A127G:p.T43A,ENSG00000131095:ENST00000435360:exon8:c.A1276G:p.T426A Score=374;Name=lod=44 NA 17q21.31 NA NA NA NA rs9916491 0.24 0.24 0.242 0.24361 0.2624 0.251 0.2291 0.2307 0.2444 0.24 0.28 0.25 0.17 0.2675 0.28 0.21 T 0.0 B 0.0 B . . 0.000 P 0 N -1.77 D -1.100 T 0.000 T 0.053 1.517 11.02 3.79 0.924 0.753 6.750 1.517202 1.517202 0.15 0.274288 0.241071 NA 0.072 NA 9.5291454 699 19 41937095 41937095 G A downstream ATP5SL NA NA NA downstream ENSG00000105341 NA NA NA NA Name=Height 19q13.2 NA Name=Pol2 Name=8 NA rs17318596 0.39 0.39 0.349 0.376997 0.3847 0.5605 0.5072 0.1528 0.3906 0.4 0.54 0.43 0.17 0.3902 0.54 0.08 T . . . . . . 1.000 P . . . . -1.001 T 0.000 T . 0.623 7.349 -5.28 -2.745 -1.499 5.52 0.622576 NA 0.01 0.366399 0.214041 NA 0.312 NA 9.5253676 700 2 108994808 108994808 C G exonic SULT1C4 NA nonsynonymous SNV SULT1C4:NM_006588:exon1:c.C15G:p.D5E exonic ENSG00000198075 NA nonsynonymous SNV ENSG00000198075:ENST00000272452:exon1:c.C15G:p.D5E,ENSG00000198075:ENST00000409309:exon1:c.C15G:p.D5E NA NA 2q12.3 NA Name=TAL1_(SC-12984) Name=6 NA rs1402467 0.36 0.36 0.403 0.417732 0.2634 0.1081 0.1801 0.8752 0.4458 0.26 0.11 0.19 0.9 0.2992 0.9 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 5.01 T -1.009 T 0.000 T 0.005 -0.565 1.45 -1.75 -0.973 -0.691 6.706 -0.565305 NA 0.46 0.246279 0.766682 NA 0.5 NA 9.5244544 700 5 32087374 32087374 A G exonic PDZD2 NA nonsynonymous SNV PDZD2:NM_178140:exon19:c.A3820G:p.T1274A exonic ENSG00000133401 NA nonsynonymous SNV ENSG00000133401:ENST00000282493:exon19:c.A3820G:p.T1274A,ENSG00000133401:ENST00000438447:exon20:c.A3820G:p.T1274A NA NA 5p13.3 NA NA NA NA rs157496 0.33 0.33 0.324 0.359824 0.2773 0.4137 0.2349 0.3396 0.5051 0.28 0.42 0.25 0.35 0.3006 0.42 0.89 T 0.0 B 0.0 B 0.527 N 1.000 P 0 N 3.38 T -0.957 T 0.000 T 0.012 -0.312 2.516 -5.16 -1.500 -2.248 2.028 -0.311796 NA 0.27 0.231163 0.337948 NA 0.239 NA 9.5242704 700 6 31079994 31079994 C T exonic C6orf15 NA nonsynonymous SNV C6orf15:NM_014070:exon2:c.G142A:p.G48R exonic ENSG00000204542 NA nonsynonymous SNV ENSG00000204542:ENST00000259870:exon2:c.G142A:p.G48R NA NA 6p21.33 NA NA NA NA rs2233976 0.09 0.09 0.078 0.0798722 0.1163 0.0387 0.1455 0.0461 0.0838 0.12 0.03 0.17 0.04 0.1017 0.17 0.01 D 0.895 P 0.324 B 0.035 N 1.000 P 1.78 L 3.31 T -0.972 T 0.008 T 0.092 2.922 15.74 3.01 0.605 0.533 6.540 2.921597 2.921597 0 0.091951 0.055453 ID=COSM150067;OCCURENCE=1(stomach) 0.051 NA 9.5233824 700 11 6023640 6023640 T C exonic OR56A4 NA nonsynonymous SNV OR56A4:NM_001005179:exon1:c.A739G:p.I247V exonic ENSG00000183389 NA nonsynonymous SNV ENSG00000183389:ENST00000330728:exon1:c.A739G:p.I247V NA NA 11p15.4 NA NA Name=8 NA rs11040249 0.16 0.16 0.161 0.164537 0.2684 0.0794 0.1945 0.0582 0.2679 0.28 0.08 0.19 0.07 0.2451 0.3 0.12 T 0.001 B 0.019 B 0.002 U 1.000 P 1.62 L 8.72 T -1.023 T 0.000 T 0.064 0.806 8.238 3.72 1.669 0.189 11.668 0.806233 NA 0.37 0.298184 0.10836 NA 0.094 NA 9.5216494 700 3 111921116 111921116 C A exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon18:c.G2303T:p.S768I exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon17:c.G2159T:p.S720I,ENSG00000172139:ENST00000305815:exon18:c.G2303T:p.S768I Score=410;Name=lod=62 NA 3q13.2 NA NA NA NA rs9288938 0.32 0.32 0.294 0.335463 0.2376 0.3393 0.4049 0.3699 0.3364 0.24 0.32 0.38 0.37 0.305 0.38 0.25 T 0.906 P 0.747 P 0.005 N 0.995 P 1.935 M -1.17 T -1.055 T 0.000 T 0.106 2.835 15.44 1.96 0.072 0.167 6.080 2.835271 2.835271 0.05 0.270993 0.363368 NA 0.304 NA 9.5197404 700 20 44505973 44505973 T C exonic ZSWIM3 NA nonsynonymous SNV ZSWIM3:NM_080752:exon2:c.T776C:p.V259A exonic ENSG00000132801 NA nonsynonymous SNV ENSG00000132801:ENST00000255152:exon2:c.T776C:p.V259A,ENSG00000132801:ENST00000454862:exon3:c.T758C:p.V253A NA NA 20q13.12 Score=751;Name=V$SEF1_C NA NA NA rs2903808 0.57 0.57 0.538 0.564896 0.6024 0.5615 0.6859 0.4297 0.6268 0.62 0.57 0.64 0.42 0.6057 0.64 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.15 N 1.68 T -0.964 T 0.000 T 0.037 -1.013 0.242 5.49 1.579 1.344 11.323 -1.013146 NA 1 0.605698 0.46709 NA 0.551 NA 9.5195354 700 9 15784560 15784560 A G exonic CCDC171 NA synonymous SNV CCDC171:NM_173550:exon21:c.A3135G:p.A1045A exonic ENSG00000164989 NA synonymous SNV ENSG00000164989:ENST00000297641:exon21:c.A3135G:p.A1045A,ENSG00000164989:ENST00000380701:exon21:c.A3135G:p.A1045A Score=598;Name=lod=360 NA 9p22.3 NA NA NA NA rs55780067 0.02 0.02 0.022 0.0251597 0.0557 NA 0.0202 0.0008 0.0562 0.05 NA 0.02 NA 0.0422 0.054 . . . . . . . . 1.000 D . . . . -1.052 T 0.022 T . 1.17 9.759 -2.06 -0.559 -0.078 2.304 1.169548 NA NA 0.049651 0.008398 NA 0.036 NA 9.5191156 700 8 55541513 55541513 T C exonic RP1 NA nonsynonymous SNV RP1:NM_006269:exon4:c.T5071C:p.S1691P exonic ENSG00000104237 NA nonsynonymous SNV ENSG00000104237:ENST00000220676:exon4:c.T5071C:p.S1691P Score=284;Name=lod=19 NA 8q12.1 NA NA NA NA rs414352 0.3 0.3 0.299 0.278954 0.2714 0.4415 0.3069 0.1687 0.2485 0.26 0.44 0.3 0.22 0.2725 0.44 0.43 T 0.0 B 0.0 B 0.378 N 1.000 P 1.265 L 1.99 T -0.915 T 0.000 T 0.022 -0.095 3.533 3.7 0.230 -0.231 4.478 -0.095342 NA 0.14 0.272209 0.200409 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081373.1;CLNDSDB=.;CLNDSDBID=. 9.5172244 700 19 56572832 56572832 G A exonic NLRP5 NA nonsynonymous SNV NLRP5:NM_153447:exon15:c.G3541A:p.V1181I exonic ENSG00000171487 NA nonsynonymous SNV ENSG00000171487:ENST00000390649:exon15:c.G3541A:p.V1181I NA NA 19q13.43 NA NA NA NA rs10409555 0.34 0.34 0.339 0.358826 0.2575 0.4415 0.2277 0.466 0.3262 0.26 0.43 0.23 0.45 0.3004 0.45 0.71 T 0.0 B 0.0 B . . 1.000 P 0.84 L -0.65 T -1.097 T 0.000 T 0.023 -1.828 0.009 -6.66 -4.845 -1.531 8.169 -1.828455 NA 0.63 0.258741 0.426724 NA 0.399 NA 9.5166924 701 6 160560845 160560845 A G exonic SLC22A1 NA nonsynonymous SNV SLC22A1:NM_003057:exon7:c.A1222G:p.M408V,SLC22A1:NM_153187:exon7:c.A1222G:p.M408V exonic ENSG00000175003 NA nonsynonymous SNV ENSG00000175003:ENST00000324965:exon7:c.A1222G:p.M408V,ENSG00000175003:ENST00000366963:exon7:c.A1222G:p.M408V,ENSG00000175003:ENST00000457470:exon7:c.A1222G:p.M408V NA NA 6q25.3 NA NA Name=95 NA rs628031 0.7 0.7 0.686 0.6877 0.5865 0.7411 0.7839 0.7307 0.6104 0.58 0.76 0.77 0.75 0.6405 0.77 0.84 T 0.0 B 0.001 B 0.553 N 1.000 P -1.365 N 0.48 T -1.097 T 0.018 T 0.024 -1.407 0.022 -9.1 -2.233 -2.590 1.367 -1.406937 NA 0.76 0.592209 0.726282 NA 0.58 NA 9.5141244 701 19 6903920 6903920 A G exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256254:exon4:c.A338G:p.N113S,EMR1:NM_001256252:exon6:c.A605G:p.N202S,EMR1:NM_001256253:exon7:c.A761G:p.N254S,EMR1:NM_001974:exon7:c.A761G:p.N254S exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000381407:exon4:c.A338G:p.N113S,ENSG00000174837:ENST00000595026:exon5:c.A659G:p.N220S,ENSG00000174837:ENST00000381404:exon6:c.A605G:p.N202S,ENSG00000174837:ENST00000250572:exon7:c.A761G:p.N254S,ENSG00000174837:ENST00000312053:exon7:c.A761G:p.N254S NA NA 19p13.2 NA NA NA NA rs443658 0.42 0.42 0.428 0.432708 0.2396 0.4554 0.4193 0.6664 0.3016 0.24 0.49 0.38 0.65 0.3229 0.65 1 T 0.998 D 0.994 D . . 1.000 P 0.89 L -2.22 D -0.903 T 0.000 T 0.026 -0.456 1.89 -0.148 0.024 -0.193 5.798 -0.455654 NA 0.42 0.257093 0.588743 NA 0.428 NA 9.5137404 701 12 113553481 113553481 C T exonic RASAL1 NA nonsynonymous SNV RASAL1:NM_001193521:exon10:c.G962A:p.R321H,RASAL1:NM_001193520:exon11:c.G962A:p.R321H,RASAL1:NM_004658:exon11:c.G962A:p.R321H exonic ENSG00000111344 NA nonsynonymous SNV ENSG00000111344:ENST00000446861:exon10:c.G962A:p.R321H,ENSG00000111344:ENST00000548055:exon10:c.G962A:p.R321H,ENSG00000111344:ENST00000261729:exon11:c.G962A:p.R321H,ENSG00000111344:ENST00000546530:exon11:c.G962A:p.R321H Score=472;Name=lod=110 NA 12q24.13 NA NA NA NA rs1284879 0.79 0.79 0.728 0.780351 0.7734 0.7927 0.8559 0.7534 0.7577 0.76 0.79 0.85 0.78 0.7747 0.85 0.07 T 0.838 P 0.333 B 0.000 D 0.988 P -0.145 N 2.3 T -1.140 T 0.000 T 0.165 2.801 15.33 2.6 0.252 3.620 11.284 2.800696 2.800696 0.08 0.772442 0.754653 NA 0.812 NA 9.5127914 701 12 125438516 125438516 T C exonic DHX37 NA nonsynonymous SNV DHX37:NM_032656:exon20:c.A2605G:p.S869G exonic ENSG00000150990 NA nonsynonymous SNV ENSG00000150990:ENST00000544745:exon17:c.A1966G:p.S656G,ENSG00000150990:ENST00000308736:exon20:c.A2605G:p.S869G Score=336;Name=lod=31 NA 12q24.31 NA NA NA NA rs4516060 0.62 0.62 0.55 0.655751 0.5994 0.8462 0.6513 0.4463 0.8037 0.59 0.84 0.64 0.42 0.6358 0.84 1 T 0.0 B 0.0 B 0.000 N 0.989 P -1.83 N 4.31 T -1.012 T 0.000 T 0.055 -0.184 3.102 5.24 1.222 5.545 13.718 -0.184466 NA 1 0.585581 0.440763 ID=COSM203005;OCCURENCE=1(large_intestine) 0.5 NA 9.5125524 701 10 99116903 99116903 C T exonic RRP12 NA nonsynonymous SNV RRP12:NM_001145114:exon32:c.G3659A:p.R1220Q,RRP12:NM_015179:exon34:c.G3842A:p.R1281Q exonic ENSG00000052749 NA nonsynonymous SNV ENSG00000052749:ENST00000536831:exon28:c.G2996A:p.R999Q,ENSG00000052749:ENST00000315563:exon31:c.G3542A:p.R1181Q,ENSG00000052749:ENST00000414986:exon32:c.G3659A:p.R1220Q,ENSG00000052749:ENST00000370992:exon34:c.G3842A:p.R1281Q Score=582;Name=lod=310 NA 10q24.1 NA NA NA NA rs1048445 0.26 0.26 0.256 0.283347 0.2813 0.3075 0.2853 0.1762 0.4039 0.28 0.28 0.29 0.18 0.2737 0.29 0.52 T 0.013 B 0.003 B 0.004 N 0.804 P -1.24 N 1.56 T -0.950 T 0.000 T 0.052 1.543 11.11 3.1 0.374 2.901 10.381 1.542652 1.542652 0.73 0.267907 0.174535 NA 0.239 NA 9.5104264 701 6 100964147 100964147 G C exonic ASCC3 NA nonsynonymous SNV ASCC3:NM_006828:exon39:c.C5984G:p.S1995C exonic ENSG00000112249 NA nonsynonymous SNV ENSG00000112249:ENST00000369162:exon39:c.C5984G:p.S1995C Score=405;Name=lod=59 NA 6q16.3 NA NA NA NA rs240780 0.71 0.71 0.751 0.767772 0.5795 0.7857 0.611 0.9486 0.8098 0.56 0.76 0.64 0.95 0.6592 0.95 0.24 T 0.0 B 0.0 B 0.000 N 0.000 P 0 N -0.19 T -1.100 T 0.061 T 0.064 1.341 10.4 4.96 1.244 3.029 14.899 1.340708 1.340708 0.14 0.584535 0.87222 ID=COSM1132075;OCCURENCE=1(prostate) 0.71 NA 9.5100984 701 22 32756703 32756703 C T exonic RFPL3 NA nonsynonymous SNV RFPL3:NM_001098535:exon2:c.C838T:p.R280C,RFPL3:NM_006604:exon3:c.C751T:p.R251C exonic ENSG00000128276 NA nonsynonymous SNV ENSG00000128276:ENST00000249007:exon2:c.C838T:p.R280C,ENSG00000128276:ENST00000382088:exon2:c.C751T:p.R251C,ENSG00000128276:ENST00000397468:exon3:c.C751T:p.R251C NA NA 22q12.3 NA NA NA NA rs73166367 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA 0.3241 NA 0.06 T 0.981 D 0.857 P . . 0.755 N 2.275 M -0.4 T -0.508 T 0.366 T 0.304 1.306 10.28 0.475 0.473 0.183 6.668 1.306312 1.306312 0.01 NA NA ID=COSM1415947,COSM78412;OCCURENCE=1(ovary),1(large_intestine) NA NA 9.5092334 701 14 21215923 21215923 G T exonic EDDM3A NA nonsynonymous SNV EDDM3A:NM_006683:exon2:c.G184T:p.G62C exonic ENSG00000181562 NA nonsynonymous SNV ENSG00000181562:ENST00000326842:exon2:c.G184T:p.G62C NA NA 14q11.2 NA NA NA NA rs34552133 0.1 0.1 0.08 0.113019 0.1064 0.1627 0.0519 0.062 0.181 0.1 0.16 0.07 0.05 0.113 0.16 0.03 D 0.996 D 0.907 P 0.944 N 1.000 P 1.245 L 0.99 T -1.090 T 0.001 T 0.088 1.798 11.97 0.182 -0.138 0.484 3.852 1.797746 1.797746 0.06 0.107209 0.064911 NA 0.058 NA 9.5067244 702 20 6065729 6065729 C T exonic FERMT1 NA nonsynonymous SNV FERMT1:NM_017671:exon12:c.G1577A:p.R526K exonic ENSG00000101311 NA nonsynonymous SNV ENSG00000101311:ENST00000536936:exon11:c.G806A:p.R269K,ENSG00000101311:ENST00000217289:exon12:c.G1577A:p.R526K Score=507;Name=lod=153 NA 20p12.3 NA NA NA NA rs2232074 0.48 0.48 0.032 0.457069 0.3797 0.6409 0.4784 0.4554 0.3344 0.36 0.67 0.47 0.42 0.3977 0.67 1 T 0.0 B 0.0 B 0.000 N 0.698 P -2.67 N -0.81 T -0.915 T 0.000 T 0.054 0.375 6.035 5.17 0.905 6.256 11.280 0.374774 NA 1 0.051628 0.084203 NA NA NA 9.5043054 702 5 134782450 134782450 T A exonic C5orf20 NA stopgain C5orf20:NM_130848:exon1:c.A349T:p.R117X exonic ENSG00000251380 NA stopgain ENSG00000251380:ENST00000503143:exon1:c.A349T:p.R117X NA NA 5q31.1 NA NA NA NA rs12520799 0.61 0.61 0.632 0.645168 0.5149 0.5635 0.5533 0.9319 0.5409 0.5 0.55 0.51 0.92 0.5177 0.92 0 D . . . . . . 0.000 P . . . . . . . . . 4.232 22 -5.91 -1.602 -0.200 0.601 4.231785 4.231785 NA 0.463372 0.862233 NA 0.761 NA 9.504028 702 3 14187449 14187449 G T exonic XPC NA nonsynonymous SNV XPC:NM_001145769:exon16:c.C2704A:p.Q902K,XPC:NM_004628:exon16:c.C2815A:p.Q939K exonic ENSG00000154767 NA nonsynonymous SNV ENSG00000154767:ENST00000285021:exon16:c.C2815A:p.Q939K,ENSG00000154767:ENST00000449060:exon16:c.C2704A:p.Q902K Score=436;Name=lod=79 NA 3p25.1 NA Name=CTCF NA NA rs2228001 0.66 0.66 0.622 0.684704 0.5954 0.6667 0.7176 0.7511 0.682 0.59 0.65 0.73 0.71 0.6325 0.73 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.125 N 1.93 T -0.955 T 0.000 T 0.133 0.147 4.792 4.24 0.882 2.905 7.925 0.147259 NA 1 0.601483 0.729879 NA 0.406 NA 9.5039504 702 12 13526328 13526328 G T ncRNA_exonic C12orf36 NA NA NA exonic ENSG00000180861 NA nonsynonymous SNV ENSG00000180861:ENST00000527705:exon2:c.C227A:p.A76E,ENSG00000180861:ENST00000318426:exon3:c.C227A:p.A76E NA NA 12p13.1 NA NA Name=6 NA rs17821405 0.25 0.25 0.227 0.233227 0.3439 0.1677 0.2867 0.1581 0.2505 0.35 0.19 0.28 0.16 0.3044 0.35 0 D 0.962 D 0.445 B . . 1.000 P . . 1.53 T -0.959 T 0.000 T 0.376 0.371 6.015 -0.015 -0.012 -1.011 5.117 0.371098 NA NA 0.348256 0.178166 NA 0.145 NA 9.503444 702 4 100239319 100239319 T C exonic ADH1B NA nonsynonymous SNV ADH1B:NM_000668:exon3:c.A143G:p.H48R exonic ENSG00000196616 NA nonsynonymous SNV ENSG00000196616:ENST00000305046:exon3:c.A143G:p.H48R,ENSG00000196616:ENST00000394887:exon3:c.A23G:p.H8R Score=417;Name=lod=66 Name=Upper aerodigestive tract cancers,Alcohol dependence,Esophageal cancer 4q23 NA NA NA NA rs1229984 0.79 0.79 0.803 0.841454 0.9712 0.3026 0.9424 0.9985 0.9796 0.98 0.27 0.92 1 0.9064 1 0.15 T 0.0 B 0.0 B 0.001 N 0.117 P . . 3.8 T -0.998 T 0.000 T 0.022 0.445 6.418 3.57 0.318 2.012 10.534 0.44529 NA 0.38 0.953023 0.983886 NA 0.899 CLINSIG=other|other;CLNDBN=Alcohol_dependence|AERODIGESTIVE_TRACT_CANCER\x2c_SQUAMOUS_CELL\x2c_ALCOHOL-RELATED\x2c_PROTECTION_AGAINST;CLNREVSTAT=single|single;CLNACC=RCV000019813.1|RCV000019814.1;CLNDSDB=MedGen:OMIM|.;CLNDSDBID=CN028882:103780|. 9.5027104 702 20 16359567 16359567 A G exonic KIF16B NA nonsynonymous SNV KIF16B:NM_001199865:exon19:c.T3080C:p.M1027T,KIF16B:NM_001199866:exon19:c.T3080C:p.M1027T,KIF16B:NM_024704:exon19:c.T3080C:p.M1027T exonic ENSG00000089177 NA nonsynonymous SNV ENSG00000089177:ENST00000354981:exon19:c.T3080C:p.M1027T,ENSG00000089177:ENST00000355755:exon19:c.T3080C:p.M1027T,ENSG00000089177:ENST00000378003:exon19:c.T758C:p.M253T,ENSG00000089177:ENST00000408042:exon19:c.T3080C:p.M1027T Score=346;Name=lod=34 NA 20p12.1 NA Name=CTCF NA NA rs6034464 0.76 0.76 0.76 0.785144 0.5497 0.9663 0.7003 0.8759 0.7781 0.55 0.97 0.69 0.9 0.6802 0.97 0.72 T 0.005 B 0.014 B 0.277 N 0.999 P 0 N 2.6 T -0.976 T 0.000 T 0.035 0.428 6.324 4.07 0.926 3.855 10.024 0.427843 NA 0.03 0.601279 0.835225 NA 0.717 NA 9.5021544 702 7 91743150 91743150 A G exonic CYP51A1 NA synonymous SNV CYP51A1:NM_000786:exon10:c.T1359C:p.H453H,CYP51A1:NM_001146152:exon10:c.T1044C:p.H348H exonic ENSG00000001630 NA synonymous SNV ENSG00000001630:ENST00000003100:exon10:c.T1359C:p.H453H,ENSG00000001630:ENST00000450723:exon10:c.T1044C:p.H348H Score=612;Name=lod=410 NA 7q21.2 Score=874;Name=V$CREB_02 NA NA NA rs7797834 0.35 0.35 0.35 0.359625 0.3867 0.1607 0.3588 0.4539 0.41 0.39 0.17 0.38 0.49 0.3771 0.49 . . . . . . . . 0.000 P . . . . -0.891 T 0.000 T . 2.164 13.19 3.73 0.894 3.131 10.444 2.164343 2.164343 NA 0.401512 0.471403 NA 0.406 NA 9.5013546 702 22 18300240 18300240 T C exonic MICAL3 NA synonymous SNV MICAL3:NM_015241:exon26:c.A5187G:p.L1729L exonic ENSG00000243156 NA synonymous SNV ENSG00000243156:ENST00000441493:exon26:c.A5187G:p.L1729L NA NA 22q11.21 Score=953;Name=V$LYF1_01 NA NA NA rs5992854 0.39 0.39 0.384 0.386182 0.3897 0.1726 0.2651 0.6876 0.2812 0.38 0.18 0.29 0.7 0.3781 0.7 . . . . . . . . 0.006 P . . . . . . . . . -1.643 0.013 -2.63 -0.962 -1.496 6.781 -1.642718 NA NA 0.401126 0.646932 NA 0.5 NA 9.4977406 702 20 60937516 60937516 A G exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon2:c.T390C:p.S130S exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon2:c.T390C:p.S130S,ENSG00000130702:ENST00000370677:exon2:c.T390C:p.S130S,ENSG00000130702:ENST00000370692:exon2:c.T390C:p.S130S Score=525;Name=lod=182 NA 20q13.33 Score=778;Name=V$YY1_02 Name=CEBPB,Pol2 Name=5 NA rs41284996 0.05 0.05 0.048 0.0756789 0.0527 0.0089 0.0375 0.0787 0.1912 0.06 0.0035 0.05 0.09 0.071 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.469889 1.469889 NA 0.047625 0.074192 NA 0.13 NA 9.4953416 703 15 100269737 100269737 G A exonic LYSMD4 NA nonsynonymous SNV LYSMD4:NM_152449:exon6:c.C485T:p.A162V exonic ENSG00000183060 NA nonsynonymous SNV ENSG00000183060:ENST00000409796:exon3:c.C482T:p.A161V,ENSG00000183060:ENST00000332728:exon4:c.C482T:p.A161V,ENSG00000183060:ENST00000545021:exon4:c.C104T:p.A35V,ENSG00000183060:ENST00000344791:exon6:c.C485T:p.A162V NA NA 15q26.3 NA NA NA NA rs8041078 0.17 0.17 0.157 0.177516 0.1163 0.2024 0.2392 0.2315 0.0982 0.12 0.18 0.19 0.22 0.1228 0.22 0.19 T 0.804 P 0.173 B 0.270 N 1.000 P 1.79 L 2.01 T -1.003 T 0.000 T 0.045 1.2 9.877 3.91 1.144 0.099 14.035 1.2005 NA 0.2 0.103837 0.196323 NA 0.203 NA 9.4903964 703 4 2210065 2210065 C A exonic POLN NA nonsynonymous SNV POLN:NM_181808:exon3:c.G363T:p.Q121H exonic ENSG00000130997 NA nonsynonymous SNV ENSG00000130997:ENST00000382865:exon3:c.G363T:p.Q121H,ENSG00000130997:ENST00000511885:exon5:c.G363T:p.Q121H NA NA 4p16.3 NA NA NA NA rs2353552 0.06 0.06 0.053 0.0439297 0.1262 0.003 0.0677 0.0068 0.0348 0.13 0.0017 0.09 0.01 0.0889 0.13 0.02 D 0.976 D 0.628 P 0.001 N 1.000 P 0.975 L 0.81 T -1.091 T 0.002 T 0.172 3.659 18.6 -0.11 0.219 -0.704 1.232 3.658914 3.658914 0.01 0.128286 0.024124 NA 0.036 NA 9.4899474 703 19 53056953 53056953 G A exonic ZNF808 NA nonsynonymous SNV ZNF808:NM_001039886:exon5:c.G784A:p.D262N exonic ENSG00000198482 NA nonsynonymous SNV ENSG00000198482:ENST00000487863:exon3:c.G577A:p.D193N,ENSG00000198482:ENST00000359798:exon5:c.G784A:p.D262N Score=304;Name=lod=23 NA 19q13.41 NA NA NA NA rs329965 0.21 0.21 0.18 0.217252 0.3022 0.0754 0.2983 0.1831 0.2648 0.3 0.06 0.3 0.18 0.2555 0.3 1 T 0.655 P 0.557 P . . 1.000 P 0.855 L 3.18 T -1.040 T 0.000 T 0.004 1.083 9.422 -1.46 -0.660 -2.115 2.604 1.083267 NA 0.36 0.286977 0.194054 NA 0.138 NA 9.4886564 703 22 44379838 44379838 A G exonic SAMM50 NA nonsynonymous SNV SAMM50:NM_015380:exon12:c.A1033G:p.I345V exonic ENSG00000100347 NA nonsynonymous SNV ENSG00000100347:ENST00000396202:exon11:c.A403G:p.I135V,ENSG00000100347:ENST00000350028:exon12:c.A1033G:p.I345V Score=329;Name=lod=29 NA 22q13.31 NA NA NA NA rs8418 0.75 0.75 0.749 0.766973 0.6143 0.8194 0.6441 0.9183 0.7526 0.63 0.84 0.63 0.91 0.6499 0.91 1 T 0.0 B 0.002 B 0.000 N 1.000 P -0.31 N 1.41 T -0.964 T 0.000 T 0.069 -1.467 0.018 5.04 1.255 3.202 11.457 -1.466822 NA 1 0.58093 0.864276 NA 0.79 NA 9.4882034 703 1 67243024 67243024 C A exonic TCTEX1D1 NA nonsynonymous SNV TCTEX1D1:NM_152665:exon5:c.C427A:p.L143I exonic ENSG00000152760 NA nonsynonymous SNV ENSG00000152760:ENST00000282670:exon5:c.C427A:p.L143I Score=512;Name=lod=161 NA 1p31.3 Score=870;Name=V$NKX3A_01 NA NA NA rs2133173 0.22 0.22 0.21 0.197684 0.2932 0.1012 0.2219 0.205 0.1718 0.31 0.1 0.25 0.21 0.2589 0.31 0.4 T 0.044 B 0.063 B 0.277 N 1.000 P 1.845 L 1.56 T -1.042 T 0.029 T 0.054 0.267 5.444 1.91 0.105 1.313 7.868 0.267048 NA NA 0.295581 0.23468 NA 0.246 NA 9.4856524 704 20 4843470 4843470 C A exonic SLC23A2 NA synonymous SNV SLC23A2:NM_005116:exon14:c.G1440T:p.A480A,SLC23A2:NM_203327:exon14:c.G1440T:p.A480A exonic ENSG00000089057 NA synonymous SNV ENSG00000089057:ENST00000424750:exon11:c.G1098T:p.A366A,ENSG00000089057:ENST00000338244:exon14:c.G1440T:p.A480A,ENSG00000089057:ENST00000379333:exon14:c.G1440T:p.A480A Score=507;Name=lod=154 NA 20p13 NA NA NA NA rs34073337 0.05 0.05 0.057 0.0626997 0.0666 NA 0.0533 0.1233 0.0481 0.07 0.0017 0.06 0.09 0.0571 0.12 . . . . . . . . 0.000 P . . . . -1.027 T 0.001 T . -0.509 1.669 -6.79 -1.003 -0.896 2.992 -0.509488 NA NA 0.05907 0.111212 NA 0.109 NA 9.4838966 704 1 245245402 245245402 C T exonic EFCAB2 NA synonymous SNV EFCAB2:NM_001143943:exon4:c.C201T:p.P67P,EFCAB2:NM_032328:exon5:c.C201T:p.P67P exonic ENSG00000203666 NA synonymous SNV ENSG00000203666:ENST00000447569:exon4:c.C201T:p.P67P,ENSG00000203666:ENST00000366522:exon5:c.C609T:p.P203P,ENSG00000203666:ENST00000366523:exon5:c.C201T:p.P67P Score=565;Name=lod=263 NA 1q44 Score=1000;Name=V$AP2REP_01 NA NA NA rs10927387 0.32 0.32 0.335 0.289337 0.4453 0.1935 0.2853 0.2489 0.2853 0.43 0.22 0.31 0.27 0.3438 0.43 0 D . . . . 0.049 N 0.000 P . . -1.24 T -1.012 T 0.000 T . 1.133 9.619 2.57 0.722 -0.343 3.951 1.133382 NA NA 0.394651 0.252156 ID=COSM146846;OCCURENCE=1(stomach) 0.348 NA 9.4829156 704 19 17088319 17088319 G T exonic CPAMD8 NA nonsynonymous SNV CPAMD8:NM_015692:exon15:c.C1758A:p.D586E exonic ENSG00000160111 NA nonsynonymous SNV ENSG00000160111:ENST00000443236:exon15:c.C1758A:p.D586E Score=401;Name=lod=57 NA 19p13.11 NA NA NA NA rs3745335 0.34 0.34 0.328 0.349042 0.2863 0.2837 0.3012 0.503 0.3067 0.3 0.29 0.31 0.5 0.2936 0.5 0.96 T 0.002 B 0.023 B 0.707 U 0.041 P 0.4 N . . -0.965 T 0.000 T 0.023 -0.467 1.841 -4.91 -2.316 -0.780 1.055 -0.46732 NA 0.58 0.270703 0.426056 NA 0.312 NA 9.4827304 704 3 38766675 38766675 A G exonic SCN10A NA nonsynonymous SNV SCN10A:NM_006514:exon17:c.T3218C:p.V1073A exonic ENSG00000185313 NA nonsynonymous SNV ENSG00000185313:ENST00000449082:exon17:c.T3218C:p.V1073A NA Name=Electrocardiographic conduction measures,Electrocardiographic traits 3p22.2 NA NA NA NA rs6795970 0.74 0.74 0.745 0.757987 0.5905 0.8194 0.6441 0.9478 0.6912 0.58 0.83 0.64 0.94 0.6586 0.94 0.79 T 0.0 B 0.0 B 0.000 N 1.000 P -0.115 N -3.69 D -0.912 T 0.000 T 0.018 -0.357 2.315 -4.56 -1.287 -0.830 0.783 -0.356928 NA NA 0.60186 0.899001 NA 0.681 NA 9.4823734 704 12 39695445 39695445 G A exonic KIF21A NA synonymous SNV KIF21A:NM_001173463:exon33:c.C4657T:p.L1553L,KIF21A:NM_001173465:exon33:c.C4609T:p.L1537L,KIF21A:NM_017641:exon36:c.C4729T:p.L1577L,KIF21A:NM_001173464:exon37:c.C4768T:p.L1590L exonic ENSG00000139116 NA synonymous SNV ENSG00000139116:ENST00000551264:exon13:c.C1711T:p.L571L,ENSG00000139116:ENST00000541463:exon33:c.C4609T:p.L1537L,ENSG00000139116:ENST00000544797:exon33:c.C4657T:p.L1553L,ENSG00000139116:ENST00000361961:exon36:c.C4729T:p.L1577L,ENSG00000139116:ENST00000395670:exon36:c.C4771T:p.L1591L,ENSG00000139116:ENST00000361418:exon37:c.C4768T:p.L1590L Score=548;Name=lod=225 NA 12q12 Score=772;Name=V$AHRARNT_02 Name=GATA-2 Name=7 NA rs2271477 0.08 0.08 0.08 0.0810703 0.0696 0.128 0.121 0.0219 0.0961 0.07 0.15 0.1 0.02 0.0649 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.838588 NA NA 0.05093 0.026555 NA 0.065 NA 9.4812366 704 17 7386280 7386280 G A exonic SLC35G6 NA stopgain SLC35G6:NM_001102614:exon2:c.G977A:p.W326X exonic ENSG00000259224 NA stopgain ENSG00000259224:ENST00000412468:exon2:c.G977A:p.W326X Score=425;Name=lod=71 NA 17p13.1 NA NA NA NA rs7214088 0.59 0.59 0.688 0.746406 0.7734 0.9187 0.8718 0.5696 0.6912 0.56 0.7 0.7 0.41 0.7461 0.7 0.2 T . . . . . . 0.000 P . . . . . . . . . 2.343 13.79 3.62 0.773 2.382 7.681 2.343383 2.343383 0.31 NA NA NA NA NA 9.4805 704 8 10467604 10467604 C A exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.G4004T:p.G1335V exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.G4004T:p.G1335V NA NA 8p23.1 NA NA NA NA rs74366179 0.18 0.18 0.128 NA NA NA NA NA NA 0.15 0.22 0.19 0.15 0.2033 0.24 0.01 D 0.995 D 0.72 P . . 1.000 P 0 N 3.38 T -0.875 T 0.000 T 0.035 1.423 10.7 -0.449 0.008 -0.865 6.577 1.422679 1.422679 0.01 0.152069 0.132172 ID=COSM1330390;OCCURENCE=1(ovary) 0.188 NA 9.4779644 704 1 28209366 28209366 A G exonic THEMIS2 NA nonsynonymous SNV THEMIS2:NM_001105556:exon4:c.A1531G:p.K511E exonic ENSG00000130775 NA nonsynonymous SNV ENSG00000130775:ENST00000373921:exon4:c.A1531G:p.K511E,ENSG00000130775:ENST00000328928:exon5:c.A1144G:p.K382E Score=259;Name=lod=15 NA 1p35.3 NA NA NA NA rs3766400 0.45 0.45 0.406 0.450479 0.6322 0.501 0.5029 0.0711 0.6871 0.63 0.49 0.53 0.09 0.5829 0.64 0.29 T 0.0 B 0.0 B 0.000 N 0.000 P -2.2 N 2.66 T -0.933 T 0.000 T 0.306 -0.519 1.629 4.0 1.258 1.850 3.223 -0.519377 NA 1 0.641351 0.152547 NA 0.428 NA 9.4768824 704 8 98991221 98991221 A G exonic MATN2 NA nonsynonymous SNV MATN2:NM_002380:exon6:c.A1066G:p.K356E,MATN2:NM_030583:exon6:c.A1066G:p.K356E exonic ENSG00000132561 NA nonsynonymous SNV ENSG00000132561:ENST00000522270:exon2:c.A157G:p.K53E,ENSG00000132561:ENST00000519585:exon3:c.A214G:p.K72E,ENSG00000132561:ENST00000520016:exon5:c.A1066G:p.K356E,ENSG00000132561:ENST00000522025:exon5:c.A214G:p.K72E,ENSG00000132561:ENST00000254898:exon6:c.A1066G:p.K356E,ENSG00000132561:ENST00000521689:exon6:c.A1066G:p.K356E,ENSG00000132561:ENST00000524308:exon6:c.A1066G:p.K356E Score=417;Name=lod=66 NA 8q22.1 Score=823;Name=V$EVI1_03 NA NA NA rs1869609 0.46 0.46 0.457 0.413738 0.662 0.2937 0.4409 0.3729 0.318 0.66 0.26 0.47 0.38 0.5363 0.66 0.14 T 0.005 B 0.029 B 0.044 N 0.717 P 1.365 L -4.03 D -0.952 T 0.000 T 0.285 1.529 11.06 -2.27 -0.258 0.083 5.163 1.528751 1.528751 0.34 0.658201 0.449927 NA 0.478 NA 9.4768324 704 16 1306986 1306986 C T exonic TPSD1 NA nonsynonymous SNV TPSD1:NM_012217:exon3:c.C443T:p.T148M exonic ENSG00000095917 NA nonsynonymous SNV ENSG00000095917:ENST00000211076:exon3:c.C443T:p.T148M,ENSG00000095917:ENST00000397534:exon4:c.C422T:p.T141M Score=272;Name=lod=17 NA 16p13.3 NA NA NA NA rs72775467 0.35 0.35 0.213 NA NA NA NA NA NA 0.35 0.44 0.31 0.29 0.3581 0.44 0.07 T 0.665 P 0.144 B 0.784 N 1.000 P 1.545 L -1.52 D -1.035 T 0.000 T 0.354 0.026 4.148 1.57 0.384 0.429 3.811 0.025917 NA 0.05 NA NA ID=COSM1579273;OCCURENCE=1(NS) NA NA 9.4752334 704 19 9090784 9090784 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.G1031A:p.R344K exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.G1031A:p.R344K NA NA 19p13.2 NA NA NA NA rs73495785 0.17 0.17 0.154 0.169728 0.1252 0.1746 0.1758 0.2042 0.1595 0.12 0.16 0.17 0.25 0.1338 0.25 0 D 0.862 P 0.261 B . . . . 0 N 4.24 T -0.888 T 0.000 T 0.059 -0.008 3.972 -1.38 -0.287 -0.953 2.670 -0.008126 NA 0 0.099238 0.16756 ID=COSM303963,COSM303964;OCCURENCE=1(central_nervous_system) 0.094 NA 9.4750954 705 11 69063728 69063728 G C exonic MYEOV NA nonsynonymous SNV MYEOV:NM_138768:exon3:c.G811C:p.G271R exonic ENSG00000172927 NA nonsynonymous SNV ENSG00000172927:ENST00000535407:exon2:c.G637C:p.G213R,ENSG00000172927:ENST00000308946:exon3:c.G811C:p.G271R,ENSG00000172927:ENST00000441339:exon3:c.G811C:p.G271R NA NA 11q13.3 NA Name=Pol2-4H8 NA NA rs11228610 0.15 0.15 0.136 0.179912 0.1083 0.2153 0.0922 0.1785 0.2812 0.1 0.2 0.1 0.2 0.1429 0.22 0 D 0.902 P 0.278 B . . 1.000 P 0 N 1.61 T -1.011 T 0.000 T 0.112 0.544 6.945 -0.159 -0.078 -0.360 3.223 0.544246 NA 0.8 0.108174 0.156136 NA 0.188 NA 9.4739594 705 3 135722264 135722264 A G exonic PPP2R3A NA nonsynonymous SNV PPP2R3A:NM_002718:exon2:c.A1924G:p.S642G exonic ENSG00000073711 NA nonsynonymous SNV ENSG00000073711:ENST00000264977:exon2:c.A1924G:p.S642G Score=403;Name=lod=58 NA 3q22.3 NA NA NA NA rs17197552 0.16 0.16 0.145 0.172724 0.2783 0.0288 0.1412 0.1505 0.2648 0.27 0.02 0.16 0.13 0.2662 0.31 0.13 T 0.0 B 0.001 B 0.178 N 0.000 P 0.695 N 3.33 T -0.910 T 0.000 T 0.028 1.01 9.126 3.47 0.481 1.520 8.219 1.010279 NA 0.12 0.314884 0.174841 NA 0.203 NA 9.4739494 705 2 37406680 37406680 C G exonic SULT6B1 NA nonsynonymous SNV SULT6B1:NM_001032377:exon4:c.G336C:p.L112F exonic ENSG00000138068 NA nonsynonymous SNV ENSG00000138068:ENST00000260637:exon4:c.G336C:p.L112F,ENSG00000138068:ENST00000535679:exon4:c.G450C:p.L150F,ENSG00000138068:ENST00000407963:exon5:c.G336C:p.L112F Score=522;Name=lod=176 NA 2p22.2 Score=826;Name=V$OCT1_04 NA NA NA rs10205833 0.41 0.41 0.396 0.42492 0.2614 0.8016 0.4207 0.2277 0.4744 0.28 0.8 0.38 0.21 0.348 0.8 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.05 N -1.55 D -0.943 T 0.000 T 0.1 -0.91 0.417 0.367 -0.041 0.681 5.287 -0.910131 NA 1 0.25093 0.24739 NA 0.413 NA 9.4730034 705 14 24845841 24845841 T C exonic NFATC4 NA nonsynonymous SNV NFATC4:NM_001198966:exon9:c.T2188C:p.S730P,NFATC4:NM_004554:exon9:c.T2398C:p.S800P,NFATC4:NM_001136022:exon10:c.T2587C:p.S863P exonic ENSG00000100968 NA nonsynonymous SNV ENSG00000100968:ENST00000555393:exon4:c.T262C:p.S88P,ENSG00000100968:ENST00000555802:exon4:c.T262C:p.S88P,ENSG00000100968:ENST00000555167:exon6:c.T1003C:p.S335P,ENSG00000100968:ENST00000556759:exon6:c.T1003C:p.S335P,ENSG00000100968:ENST00000554344:exon8:c.T2188C:p.S730P,ENSG00000100968:ENST00000557451:exon8:c.T2188C:p.S730P,ENSG00000100968:ENST00000250373:exon9:c.T2398C:p.S800P,ENSG00000100968:ENST00000422617:exon9:c.T2362C:p.S788P,ENSG00000100968:ENST00000553708:exon9:c.T2398C:p.S800P,ENSG00000100968:ENST00000553879:exon9:c.T2188C:p.S730P,ENSG00000100968:ENST00000555453:exon9:c.T2362C:p.S788P,ENSG00000100968:ENST00000413692:exon10:c.T2587C:p.S863P,ENSG00000100968:ENST00000424781:exon10:c.T2437C:p.S813P,ENSG00000100968:ENST00000539237:exon10:c.T2494C:p.S832P,ENSG00000100968:ENST00000555590:exon10:c.T2437C:p.S813P,ENSG00000100968:ENST00000556279:exon10:c.T2494C:p.S832P Score=489;Name=lod=130 NA 14q12 NA Name=CTCF_(SC-5916),YY1_(C-20),CTCF,Rad21 Name=3 NA rs7149586 0.39 0.39 0.387 0.358027 0.6571 0.1538 0.4539 0.2209 0.3783 0.63 0.16 0.49 0.22 0.5384 0.67 0.86 T 0.0 B 0.0 B 0.031 N 0.000 P 0.345 N 3.14 T -0.933 T 0.000 T 0.15 1.55 11.14 2.27 0.294 -0.270 5.340 1.549706 1.549706 0.38 0.668721 0.287108 NA 0.536 NA 9.4691124 705 17 61903445 61903445 G C exonic FTSJ3 NA nonsynonymous SNV FTSJ3:NM_017647:exon5:c.C271G:p.Q91E exonic ENSG00000108592 NA nonsynonymous SNV ENSG00000108592:ENST00000580272:exon4:c.C271G:p.Q91E,ENSG00000108592:ENST00000427159:exon5:c.C271G:p.Q91E,ENSG00000108592:ENST00000581209:exon5:c.C271G:p.Q91E Score=611;Name=lod=406 NA 17q23.3 NA NA NA NA rs2584625 0.68 0.68 0.694 0.732827 0.5984 0.5556 0.6816 0.9796 0.7566 0.6 0.58 0.64 0.97 0.6597 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.78 N 1.61 T -0.955 T 0.000 T 0.184 2.818 15.39 4.74 1.367 5.111 13.178 2.818139 2.818139 1 0.606512 0.91103 NA 0.681 NA 9.4687214 706 9 96021312 96021312 G A exonic WNK2 NA nonsynonymous SNV WNK2:NM_006648:exon11:c.G2482A:p.V828M exonic ENSG00000165238 NA nonsynonymous SNV ENSG00000165238:ENST00000395475:exon10:c.G2284A:p.V762M,ENSG00000165238:ENST00000448039:exon10:c.G2326A:p.V776M,ENSG00000165238:ENST00000297954:exon11:c.G2482A:p.V828M,ENSG00000165238:ENST00000349097:exon11:c.G1318A:p.V440M,ENSG00000165238:ENST00000395477:exon11:c.G2482A:p.V828M,ENSG00000165238:ENST00000427277:exon11:c.G1318A:p.V440M NA NA 9q22.31 NA NA NA NA rs10761203 0.38 0.38 0.353 0.313498 0.4573 0.4345 0.5058 0.0681 0.2362 0.46 0.44 0.5 0.09 0.4327 0.5 0.13 T 0.734 P 0.101 B 0.290 N 0.998 P 0.895 L 0.16 T -0.915 T 0.000 T 0.294 1.262 10.12 2.9 1.143 1.047 3.581 1.262253 1.262253 0.02 0.481856 0.14571 ID=COSM456261,COSM456262;OCCURENCE=1(breast) 0.348 NA 9.4614774 706 6 49814379 49814379 T C exonic CRISP1 NA nonsynonymous SNV CRISP1:NM_001131:exon5:c.A289G:p.T97A,CRISP1:NM_001205220:exon5:c.A289G:p.T97A,CRISP1:NM_170609:exon5:c.A289G:p.T97A exonic ENSG00000124812 NA nonsynonymous SNV ENSG00000124812:ENST00000329411:exon4:c.A289G:p.T97A,ENSG00000124812:ENST00000355791:exon4:c.A289G:p.T97A,ENSG00000124812:ENST00000335847:exon5:c.A289G:p.T97A,ENSG00000124812:ENST00000505118:exon5:c.A289G:p.T97A,ENSG00000124812:ENST00000507853:exon5:c.A289G:p.T97A,ENSG00000124812:ENST00000536021:exon5:c.A289G:p.T97A NA NA 6p12.3 NA NA NA NA rs3209304 0.06 0.06 0.045 0.0439297 0.1272 NA 0.0504 0.0091 0.046 0.13 NA 0.06 0.01 0.0972 0.15 . . 0.98 D 0.699 P 0.515 N 1.000 P 1.825 L 3.21 T -1.003 T 0.016 T 0.07 1.323 10.34 2.77 0.842 0.287 4.506 1.323035 1.323035 0.22 0.148605 0.032683 NA 0.101 NA 9.4603284 706 11 6816875 6816875 G A exonic OR6A2 NA nonsynonymous SNV OR6A2:NM_003696:exon1:c.C65T:p.A22V exonic ENSG00000184933 NA nonsynonymous SNV ENSG00000184933:ENST00000332601:exon1:c.C65T:p.A22V NA NA 11p15.4 NA NA NA NA rs7122644 0.3 0.3 0.289 0.312899 0.2932 0.4623 0.2695 0.1906 0.3753 0.3 0.41 0.25 0.19 0.2991 0.41 0.54 T 0.001 B 0.0 B 0.867 N 1.000 P 0.615 N 7.44 T -0.979 T 0.000 T 0.02 0.551 6.981 -9.9 -2.137 -1.986 15.104 0.551115 NA 0.52 0.281308 0.222172 NA 0.312 NA 9.4597254 707 19 33600764 33600764 T C exonic GPATCH1 NA nonsynonymous SNV GPATCH1:NM_018025:exon11:c.T1427C:p.L476P exonic ENSG00000076650 NA nonsynonymous SNV ENSG00000076650:ENST00000170564:exon11:c.T1427C:p.L476P NA NA 19q13.11 NA NA NA NA rs2287679 0.44 0.44 0.45 0.533546 0.2416 0.5079 0.2867 0.8003 0.6748 0.25 0.5 0.3 0.78 0.3712 0.78 0.28 T 0.0 B 0.001 B 0.445 N 0.989 P -1.03 N 1.54 T -0.997 T 0.000 T 0.031 -0.214 2.963 5.74 1.454 1.138 9.437 -0.214135 NA 0.19 0.267093 0.726963 NA 0.261 NA 9.4534404 707 12 7022085 7022085 T A exonic LRRC23 NA nonsynonymous SNV LRRC23:NM_001135217:exon7:c.T950A:p.V317E,LRRC23:NM_201650:exon7:c.T950A:p.V317E exonic ENSG00000010626 NA nonsynonymous SNV ENSG00000010626:ENST00000007969:exon7:c.T950A:p.V317E,ENSG00000010626:ENST00000443597:exon7:c.T950A:p.V317E Score=325;Name=lod=28 NA 12p13.31 NA NA NA NA rs1057077 0.38 0.38 0.404 0.401358 0.2952 0.2579 0.2752 0.7141 0.3252 0.29 0.25 0.35 0.69 0.3045 0.69 1 T 0.0 B 0.0 B . . 0.000 P -2.215 N 0.66 T -0.927 T 0.000 T 0.097 -0.933 0.372 5.27 0.931 4.721 11.904 -0.933309 NA 1 0.280233 0.616886 NA 0.42 NA 9.4534004 707 3 49689210 49689210 G A exonic BSN NA nonsynonymous SNV BSN:NM_003458:exon5:c.G2221A:p.A741T exonic ENSG00000164061 NA nonsynonymous SNV ENSG00000164061:ENST00000296452:exon5:c.G2221A:p.A741T NA NA 3p21.31 NA NA NA NA rs34762726 0.24 0.24 0.23 0.208866 0.3241 0.0565 0.1729 0.2632 0.1994 0.33 0.06 0.23 0.3 0.2649 0.33 0.72 T 0.003 B 0.006 B 0.230 N 1.000 P 0.29 N 2.32 T -0.924 T 0.000 T 0.064 -0.652 1.133 4.17 1.092 1.965 6.161 -0.65194 NA 0.74 0.298441 0.26759 NA 0.304 NA 9.4458924 707 3 142681249 142681249 G A exonic PAQR9 NA synonymous SNV PAQR9:NM_198504:exon1:c.C930T:p.S310S exonic ENSG00000188582 NA synonymous SNV ENSG00000188582:ENST00000340634:exon1:c.C930T:p.S310S Score=664;Name=lod=669 NA 3q23 NA NA NA NA rs62276870 0.04 0.04 0.052 0.028754 0.0895 NA 0.0389 0.0053 0.0204 0.09 NA 0.05 0.01 0.0531 0.09 . . . . . . . . 0.000 P . . . . -0.944 T 0.015 T . 0.654 7.505 2.88 0.075 2.840 13.488 0.653518 NA NA 0.078953 0.013618 NA 0.08 NA 9.4451136 708 12 6562823 6562823 C T exonic TAPBPL NA nonsynonymous SNV TAPBPL:NM_018009:exon3:c.C506T:p.A169V exonic ENSG00000139192 NA nonsynonymous SNV ENSG00000139192:ENST00000544021:exon2:c.C275T:p.A92V,ENSG00000139192:ENST00000266556:exon3:c.C506T:p.A169V NA NA 12p13.31 NA NA NA NA rs2041387 0.26 0.26 0.241 0.258187 0.3042 0.3224 0.1744 0.1846 0.3037 0.29 0.33 0.17 0.18 0.2806 0.33 0.42 T 0.003 B 0.003 B 0.049 N 1.000 P 1.78 L 3.02 T -1.014 T 0.000 T 0.224 1.074 9.385 4.56 2.097 1.069 12.858 1.073965 NA 0.35 0.304884 0.187245 NA 0.21 NA 9.4436494 708 6 32944094 32944094 G C exonic BRD2 NA synonymous SNV BRD2:NM_001199455:exon5:c.G678C:p.L226L,BRD2:NM_001199456:exon5:c.G537C:p.L179L,BRD2:NM_001113182:exon6:c.G678C:p.L226L,BRD2:NM_005104:exon6:c.G678C:p.L226L exonic ENSG00000204256 NA synonymous SNV ENSG00000204256:ENST00000395287:exon5:c.G678C:p.L226L,ENSG00000204256:ENST00000449085:exon5:c.G537C:p.L179L,ENSG00000204256:ENST00000607833:exon5:c.G678C:p.L226L,ENSG00000204256:ENST00000374825:exon6:c.G678C:p.L226L,ENSG00000204256:ENST00000374831:exon6:c.G678C:p.L226L,ENSG00000204256:ENST00000395289:exon6:c.G678C:p.L226L,ENSG00000204256:ENST00000495733:exon6:c.G678C:p.L226L,ENSG00000204256:ENST00000443797:exon7:c.G318C:p.L106L Score=637;Name=lod=516 NA 6p21.32 NA Name=Pol2-4H8,Pol2,Pol2(b) NA NA rs15912 0.04 0.04 0.043 0.0477236 0.0805 0.0208 0.0548 0.0068 0.092 0.08 0.02 0.06 0.01 0.0652 0.08 . . . . . . . . 1.000 D . . . . -1.034 T 0.094 T . 0.724 7.849 1.43 0.141 -0.195 5.134 0.72359 NA NA 0.077335 0.020516 NA 0.043 NA 9.4436316 708 6 80196848 80196848 C T exonic LCA5 NA nonsynonymous SNV LCA5:NM_001122769:exon8:c.G1967A:p.G656D,LCA5:NM_181714:exon9:c.G1967A:p.G656D exonic ENSG00000135338 NA nonsynonymous SNV ENSG00000135338:ENST00000369846:exon8:c.G1967A:p.G656D,ENSG00000135338:ENST00000392959:exon9:c.G1967A:p.G656D Score=333;Name=lod=30 NA 6q14.1 NA NA NA NA rs1875845 0.35 0.35 0.371 0.355232 0.2674 0.2698 0.3444 0.553 0.274 0.27 0.28 0.35 0.55 0.3167 0.55 1 T 0.0 B 0.0 B 0.022 N 1.000 P -1.5 N 1.72 T -0.922 T 0.004 T 0.062 -1.484 0.018 4.38 0.909 1.009 6.683 -1.48355 NA 0 0.30856 0.514753 NA 0.507 NA 9.4406734 708 18 55103512 55103512 C T exonic ONECUT2 NA synonymous SNV ONECUT2:NM_004852:exon1:c.C564T:p.S188S exonic ENSG00000119547 NA synonymous SNV ENSG00000119547:ENST00000491143:exon1:c.C564T:p.S188S Score=823;Name=lod=2954 NA 18q21.31 Score=902;Name=V$ATF_01 Name=SUZ12 Name=8 NA rs79019704 0.1 0.1 0.072 0.144369 0.0646 0.1429 0.1427 0.1732 0.1902 0.06 0.13 0.1 0.13 0.104 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253658 NA NA 0.057903 0.123855 ID=COSM1559501;OCCURENCE=1(central_nervous_system) 0.036 NA 9.4401636 708 6 29912280 29912280 T C exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon5:c.T899C:p.L300P,HLA-A:NM_002116:exon5:c.T899C:p.L300P exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376806:exon5:c.T899C:p.L300P,ENSG00000206503:ENST00000376809:exon5:c.T899C:p.L300P,ENSG00000206503:ENST00000396634:exon7:c.T899C:p.L300P Score=243;Name=lod=13 NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs1136903 0.67 0.67 0.669 0.686302 0.6342 0.6885 0.7738 0.7307 0.6155 0.6 0.7 0.72 0.72 0.6575 0.72 0 D 0.0 B 0.001 B 0.021 N 0.965 P . . 6.02 T -0.906 T 0.001 T 0.157 0.107 4.576 2.46 0.264 -0.580 5.789 0.107015 NA 1 0.602805 0.696559 NA 0.072 NA 9.4388284 708 12 7867847 7867847 G C exonic DPPA3 NA nonsynonymous SNV DPPA3:NM_199286:exon2:c.G151C:p.E51Q exonic ENSG00000187569 NA nonsynonymous SNV ENSG00000187569:ENST00000345088:exon2:c.G151C:p.E51Q NA NA 12p13.31 NA NA NA NA rs2024320 0.24 0.24 0.195 0.217851 0.3121 0.1845 0.2349 0.1884 0.183 0.32 0.19 0.24 0.2 0.2774 0.32 0.1 T 0.0 B 0.001 B . . 1.000 P 0.55 N 0.88 T -1.005 T 0.000 T 0.041 -0.368 2.265 -4.95 -2.785 -2.670 8.051 -0.368323 NA 0.11 0.306744 0.214026 NA 0.196 NA 9.4370894 708 5 145442203 145442203 G C exonic SH3RF2 NA nonsynonymous SNV SH3RF2:NM_152550:exon10:c.G2129C:p.G710A exonic ENSG00000156463 NA nonsynonymous SNV ENSG00000156463:ENST00000511217:exon9:c.G2129C:p.G710A,ENSG00000156463:ENST00000359120:exon10:c.G2129C:p.G710A Score=251;Name=lod=14 NA 5q32 NA NA NA NA rs1056149 0.63 0.63 0.614 0.630192 0.6481 0.7212 0.5937 0.4561 0.7791 0.67 0.71 0.62 0.5 0.6263 0.71 0.86 T 0.004 B 0.005 B 0.648 N 0.923 P 0.145 N 2.36 T -1.006 T 0.000 T 0.072 0.713 7.796 3.5 1.248 2.639 12.229 0.712587 NA 0.55 0.622209 0.475261 NA 0.551 NA 9.4367244 708 6 30864829 30864829 T C exonic DDR1 NA synonymous SNV DDR1:NM_001202522:exon11:c.T1470C:p.V490V,DDR1:NM_001202523:exon13:c.T1851C:p.V617V,DDR1:NM_013994:exon13:c.T1908C:p.V636V,DDR1:NM_001954:exon15:c.T1797C:p.V599V,DDR1:NM_013993:exon15:c.T1908C:p.V636V exonic ENSG00000204580 NA synonymous SNV ENSG00000204580:ENST00000361741:exon9:c.T909C:p.V303V,ENSG00000204580:ENST00000417521:exon9:c.T1104C:p.V368V,ENSG00000204580:ENST00000376567:exon12:c.T1797C:p.V599V,ENSG00000204580:ENST00000418800:exon13:c.T1797C:p.V599V,ENSG00000204580:ENST00000508312:exon13:c.T1851C:p.V617V,ENSG00000204580:ENST00000513240:exon13:c.T1908C:p.V636V,ENSG00000204580:ENST00000376568:exon14:c.T1908C:p.V636V,ENSG00000204580:ENST00000376569:exon14:c.T1797C:p.V599V,ENSG00000204580:ENST00000376570:exon15:c.T1797C:p.V599V,ENSG00000204580:ENST00000452441:exon15:c.T1908C:p.V636V,ENSG00000204580:ENST00000324771:exon16:c.T1908C:p.V636V,ENSG00000204580:ENST00000376575:exon16:c.T1908C:p.V636V,ENSG00000204580:ENST00000454612:exon17:c.T1797C:p.V599V Score=517;Name=lod=168 NA 6p21.33 NA NA Name=2 NA rs1049623 0.51 0.51 0.505 0.535743 0.3847 0.6667 0.5245 0.4531 0.6759 0.42 0.61 0.52 0.51 0.4631 0.61 . . . . . . . . 0.000 P . . . . . . . . . 1.344 10.41 5.29 1.250 0.586 7.79 1.343892 1.343892 NA 0.382209 0.455742 ID=COSM1178502,COSM1178504,COSM1178503;OCCURENCE=1(prostate) 0.493 NA 9.4366576 708 22 41075543 41075543 A G exonic MCHR1 NA nonsynonymous SNV MCHR1:NM_005297:exon1:c.A94G:p.N32D exonic ENSG00000128285 NA nonsynonymous SNV ENSG00000128285:ENST00000249016:exon1:c.A94G:p.N32D,ENSG00000128285:ENST00000381433:exon1:c.A94G:p.N32D NA NA 22q13.2 NA Name=Egr-1 Name=20 NA rs133072 0.71 0.71 0.722 0.667732 0.6352 0.9802 0.4207 0.7209 0.4826 0.62 0.99 0.44 0.73 0.626 0.99 1 T 0.0 B 0.0 B 0.013 N 1.000 P 0 N 0.56 T -0.939 T 0.000 T 0.111 -0.387 2.184 2.02 0.487 2.486 5.505 -0.386845 NA 0.98 0.636078 0.690282 NA 0.601 NA 9.4360554 708 20 3675498 3675498 T G exonic SIGLEC1 NA nonsynonymous SNV SIGLEC1:NM_023068:exon11:c.A2756C:p.H919P exonic ENSG00000088827 NA nonsynonymous SNV ENSG00000088827:ENST00000202578:exon11:c.A2756C:p.H919P,ENSG00000088827:ENST00000344754:exon11:c.A2756C:p.H919P Score=407;Name=lod=60 NA 20p13 NA NA NA NA rs709012 0.71 0.71 0.688 0.741414 0.5984 0.869 0.6715 0.7995 0.728 0.61 0.85 0.63 0.77 0.6838 0.85 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.905 N 2.82 T -0.993 T 0.000 T 0.096 -0.14 3.313 4.79 1.269 3.709 12.336 -0.140367 NA 1 0.615465 0.766228 NA 0.761 NA 9.4356684 709 5 74324548 74324548 G A exonic GCNT4 NA nonsynonymous SNV GCNT4:NM_016591:exon1:c.C1315T:p.P439S exonic ENSG00000176928 NA nonsynonymous SNV ENSG00000176928:ENST00000322348:exon1:c.C1315T:p.P439S Score=381;Name=lod=47 NA 5q13.3 NA NA NA NA rs3811987 0.4 0.4 0.413 0.436701 0.3002 0.2897 0.3732 0.7504 0.3497 0.31 0.28 0.34 0.74 0.3266 0.74 0.8 T 0.0 B 0.0 B 0.001 N 0.994 P -0.805 N 3.27 T -1.034 T 0.000 T 0.113 -0.611 1.278 4.79 0.497 3.881 10.670 -0.611098 NA 1 0.271628 0.669542 ID=COSM149851;OCCURENCE=1(stomach) 0.435 NA 9.4349054 709 5 167891830 167891830 T C exonic WWC1 NA synonymous SNV WWC1:NM_001161661:exon21:c.T3031C:p.L1011L,WWC1:NM_001161662:exon21:c.T3031C:p.L1011L,WWC1:NM_015238:exon21:c.T3013C:p.L1005L exonic ENSG00000113645 NA synonymous SNV ENSG00000113645:ENST00000524038:exon8:c.T1009C:p.L337L,ENSG00000113645:ENST00000265293:exon21:c.T3013C:p.L1005L,ENSG00000113645:ENST00000521089:exon21:c.T3031C:p.L1011L Score=525;Name=lod=182 NA 5q34 NA NA NA NA rs3203960 0.32 0.32 0.32 0.339058 0.4463 0.0407 0.3329 0.4009 0.4571 0.46 0.03 0.36 0.4 0.3693 0.46 . . . . . . . . 0.000 P . . . . -0.935 T 0.000 T . 0.437 6.375 5.14 1.189 1.673 13.906 0.437319 NA NA 0.416395 0.393554 NA 0.391 NA 9.4346716 709 19 14758168 14758168 G A exonic EMR3 NA nonsynonymous SNV EMR3:NM_032571:exon8:c.C707T:p.A236V exonic ENSG00000131355 NA nonsynonymous SNV ENSG00000131355:ENST00000443157:exon5:c.C329T:p.A110V,ENSG00000131355:ENST00000344373:exon7:c.C551T:p.A184V,ENSG00000131355:ENST00000599900:exon7:c.C62T:p.A21V,ENSG00000131355:ENST00000253673:exon8:c.C707T:p.A236V NA NA 19p13.12 NA NA NA NA rs34226397 0.3 0.3 0.316 0.298123 0.3091 0.2738 0.2104 0.3691 0.2781 0.29 0.25 0.24 0.4 0.2858 0.4 0.32 T 0.092 B 0.041 B . . 1.000 P 1.54 L 3.23 T -0.955 T 0.000 T 0.237 -1.771 0.01 3.94 1.753 2.331 11.575 -1.771288 NA 0.77 0.305 0.369496 NA 0.312 NA 9.4334334 709 12 132401566 132401566 C T exonic ULK1 NA nonsynonymous SNV ULK1:NM_003565:exon21:c.C2141T:p.P714L exonic ENSG00000177169 NA nonsynonymous SNV ENSG00000177169:ENST00000541761:exon2:c.C185T:p.P62L,ENSG00000177169:ENST00000321867:exon21:c.C2141T:p.P714L NA NA 12q24.33 NA NA NA NA rs11546871 0.19 0.19 0.185 0.203674 0.326 0.0377 0.2651 0.0877 0.362 0.31 0.03 0.3 0.09 0.2652 0.31 0.67 T 0.007 B 0.002 B 0.575 N 0.808 P 0 N 1.61 T -0.948 T 0.000 T 0.113 0.532 6.883 4.16 1.226 2.192 9.041 0.532418 NA 0.32 0.30979 0.102465 ID=COSM330256;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) 0.123 NA 9.4323434 709 1 20501582 20501582 G A exonic PLA2G2C NA stopgain PLA2G2C:NM_001105572:exon1:c.C106T:p.R36X exonic ENSG00000187980 NA stopgain ENSG00000187980:ENST00000247992:exon1:c.C106T:p.R36X,ENSG00000187980:ENST00000429261:exon2:c.C97T:p.R33X NA NA 1p36.12 Score=907;Name=V$USF_Q6 NA Name=5 NA rs12139100 0.18 0.18 0.196 0.240216 0.1839 0.1766 0.121 0.2829 0.3906 0.19 0.16 0.12 0.24 0.2095 0.25 0.38 T . . . . 0.051 N 0.000 P . . . . . . . . . 3.616 18.4 -0.89 -0.055 0.198 4.751 3.615689 3.615689 NA 0.17597 0.250384 NA 0.152 NA 9.43063 709 2 95947099 95947099 G A exonic PROM2 NA nonsynonymous SNV PROM2:NM_001165977:exon12:c.G1537A:p.G513S,PROM2:NM_001165978:exon12:c.G1537A:p.G513S,PROM2:NM_144707:exon12:c.G1537A:p.G513S exonic ENSG00000155066 NA nonsynonymous SNV ENSG00000155066:ENST00000317620:exon12:c.G1537A:p.G513S,ENSG00000155066:ENST00000317668:exon12:c.G1537A:p.G513S,ENSG00000155066:ENST00000403131:exon12:c.G1537A:p.G513S,ENSG00000155066:ENST00000542147:exon12:c.G1537A:p.G513S NA NA 2q11.1 NA NA NA NA rs72819488 0.12 0.12 0.102 0.100639 0.1382 0.2004 0.0879 0.003 0.1002 0.15 0.2 0.07 0.0041 0.1238 0.2 0.69 T 0.984 D 0.684 P 0.511 N 1.000 P 2.095 M 1.0 T -1.053 T 0.000 T 0.21 1.869 12.21 1.65 0.357 0.897 4.444 1.869411 1.869411 0.13 0.141279 0.028597 NA 0.08 NA 9.4300544 709 20 55949894 55949894 C G ncRNA_intronic MIR5095 NA NA NA exonic ENSG00000101146 NA nonsynonymous SNV ENSG00000101146:ENST00000527947:exon11:c.C1057G:p.Q353E NA NA 20q13.31 NA Name=Max Name=11 NA rs41304419 0.03 0.03 0.024 0.0325479 0.0219 0.001 0.0144 0.084 0.0194 0.02 NA 0.02 0.08 0.027 0.087 . . 0.006 B 0.005 B . . 1.000 N . . -0.06 T -1.106 T 0.005 T 0.044 0.225 5.217 -0.768 -0.133 -3.206 4.300 0.225499 NA NA 0.022442 0.086927 NA 0.087 NA 9.428658 709 14 56146357 56146357 G A exonic KTN1 NA synonymous SNV KTN1:NM_004986:exon41:c.G3852A:p.A1284A,KTN1:NM_001079522:exon42:c.G3870A:p.A1290A,KTN1:NM_001079521:exon43:c.G4023A:p.A1341A,KTN1:NM_001271014:exon43:c.G3939A:p.A1313A exonic ENSG00000126777 NA synonymous SNV ENSG00000126777:ENST00000555573:exon11:c.G954A:p.A318A,ENSG00000126777:ENST00000554507:exon24:c.G1737A:p.A579A,ENSG00000126777:ENST00000395311:exon41:c.G3870A:p.A1290A,ENSG00000126777:ENST00000413890:exon41:c.G3870A:p.A1290A,ENSG00000126777:ENST00000438792:exon41:c.G3852A:p.A1284A,ENSG00000126777:ENST00000395308:exon42:c.G3870A:p.A1290A,ENSG00000126777:ENST00000416613:exon42:c.G4023A:p.A1341A,ENSG00000126777:ENST00000395309:exon43:c.G4023A:p.A1341A,ENSG00000126777:ENST00000395314:exon43:c.G4023A:p.A1341A,ENSG00000126777:ENST00000459737:exon44:c.G4023A:p.A1341A NA NA 14q22.3 Score=877;Name=V$FREAC3_01 NA NA NA rs11546 0.05 0.05 0.045 0.0625 0.0626 0.0159 0.0749 0.053 0.1145 0.07 0.01 0.07 0.06 0.0775 0.098 . . . . . . . . 1.000 D . . . . -1.038 T 0.004 T . 0.396 6.153 -2.35 -0.584 -0.219 0.509 0.396415 NA NA 0.098256 0.062869 NA 0.022 NA 9.4283106 709 1 110201812 110201812 A G intronic GSTM4 NA NA NA exonic ENSG00000168765 NA nonsynonymous SNV ENSG00000168765:ENST00000369833:exon5:c.A524G:p.Y175C NA NA 1p13.3 NA Name=c-Jun,p300_(N-15) Name=21 NA rs563003 0.9 0.9 0.902 0.874002 0.8598 0.9692 0.8963 0.8177 0.8507 0.88 0.96 0.89 0.86 0.88 0.96 . . . . . . . . 1.000 P . . 3.47 T -0.923 T 0.004 T 0.019 1.081 9.412 -4.98 -1.127 -2.260 5.024 1.080692 NA 0.23 NA NA NA 0.768 NA 9.4268667 710 2 239237953 239237953 G T exonic TRAF3IP1 NA nonsynonymous SNV TRAF3IP1:NM_001139490:exon5:c.G885T:p.K295N,TRAF3IP1:NM_015650:exon5:c.G885T:p.K295N exonic ENSG00000204104 NA nonsynonymous SNV ENSG00000204104:ENST00000373327:exon5:c.G885T:p.K295N,ENSG00000204104:ENST00000391993:exon5:c.G885T:p.K295N,ENSG00000204104:ENST00000391994:exon5:c.G885T:p.K295N Score=251;Name=lod=14 NA 2q37.3 NA NA NA NA rs12464423 0.24 0.24 0.22 0.205072 0.3012 0.2351 0.3516 0.0219 0.2188 0.32 0.24 0.34 0.04 0.2893 0.34 0.11 T 0.904 P 0.625 P 0.336 N 0.086 P 1.735 L 2.09 T -0.946 T 0.000 T 0.042 1.206 9.896 2.52 0.395 0.808 8.217 1.20553 NA 0.02 0.320154 0.067045 NA 0.159 NA 9.4226794 710 11 6891704 6891704 T C exonic OR10A2 NA nonsynonymous SNV OR10A2:NM_001004460:exon1:c.T719C:p.I240T exonic ENSG00000170790 NA nonsynonymous SNV ENSG00000170790:ENST00000307322:exon1:c.T719C:p.I240T Score=385;Name=lod=49 NA 11p15.4 Score=763;Name=V$PAX6_01 NA NA NA rs10839632 0.3 0.3 0.266 0.310903 0.325 0.4067 0.2882 0.205 0.3569 0.33 0.36 0.28 0.19 0.3019 0.36 0 D 0.0 B 0.002 B 0.015 N 1.000 P -0.215 N 1.17 T -0.946 T 0.000 T 0.049 -0.054 3.738 1.6 0.754 0.050 9.393 -0.054205 NA 0.03 0.284916 0.236483 NA 0.297 NA 9.4215174 710 6 31110391 31110391 G C exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon18:c.C2486G:p.S829C,CCHCR1:NM_001105564:exon18:c.C2594G:p.S865C,CCHCR1:NM_019052:exon18:c.C2327G:p.S776C exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000396263:exon16:c.C2168G:p.S723C,ENSG00000204536:ENST00000376266:exon18:c.C2327G:p.S776C,ENSG00000204536:ENST00000396268:exon18:c.C2594G:p.S865C,ENSG00000204536:ENST00000451521:exon18:c.C2486G:p.S829C NA NA 6p21.33 NA NA Name=7 NA rs1576 0.24 0.24 0.254 0.223043 0.3141 0.0724 0.2767 0.2315 0.2352 0.33 0.09 0.29 0.25 0.2752 0.33 0.18 T 0.0 B 0.001 B 0.001 N 1.000 P 1.61 L 3.83 T -0.917 T 0.004 T 0.075 0.802 8.219 -5.36 -0.977 -0.312 7.497 0.802047 NA 0.14 0.322791 0.248298 NA 0.254 NA 9.4212424 710 22 32586854 32586854 C T exonic RFPL2 NA nonsynonymous SNV RFPL2:NM_006605:exon2:c.G859A:p.V287I,RFPL2:NM_001159545:exon4:c.G772A:p.V258I,RFPL2:NM_001159546:exon4:c.G772A:p.V258I,RFPL2:NM_001098527:exon5:c.G1042A:p.V348I exonic ENSG00000128253 NA nonsynonymous SNV ENSG00000128253:ENST00000248980:exon2:c.G859A:p.V287I,ENSG00000128253:ENST00000248983:exon4:c.G772A:p.V258I,ENSG00000128253:ENST00000400236:exon5:c.G772A:p.V258I,ENSG00000128253:ENST00000400237:exon5:c.G1042A:p.V348I NA NA 22q12.3 NA NA NA NA rs136467 0.4 0.4 0.42 0.471845 0.4911 0.1488 0.3775 0.8207 0.3804 0.43 0.11 0.33 0.72 0.422 0.72 0.41 T 0.0 B 0.003 B . . 1.000 P 0.04 N -0.37 T -0.963 T 0.000 T 0.133 -1.98 0.007 -2.48 -3.030 -1.822 1.045 -1.979568 NA 0.29 NA NA NA 0.457 NA 9.4202334 710 5 81572184 81572184 G C intronic RPS23 NA NA NA exonic ENSG00000186468 NA nonsynonymous SNV ENSG00000186468:ENST00000507980:exon3:c.C318G:p.F106L NA NA 5q14.2 NA Name=HEY1 NA NA rs226200 0.58 0.58 0.563 0.554513 0.5775 0.8968 0.6671 0.1157 0.6912 0.58 0.92 0.65 0.14 0.5992 0.92 0 D . . . . . . 1.000 P . . . . -1.022 T 0.000 T 0.098 1.434 10.74 -6.71 -1.253 -1.221 6.730 1.434239 1.434239 NA 0.570961 0.169597 NA 0.543 NA 9.4190057 710 12 7023123 7023123 A G exonic LRRC23 NA nonsynonymous SNV LRRC23:NM_006992:exon7:c.A827G:p.E276G exonic ENSG00000010626 NA nonsynonymous SNV ENSG00000010626:ENST00000429740:exon4:c.A559G:p.N187D,ENSG00000010626:ENST00000323702:exon7:c.A827G:p.E276G NA NA 12p13.31 NA Name=TBP,HEY1,FOXA1_(C-20),p300,FOXA1_(SC-101058),FOXA2_(SC-6554),TCF4,Pol2 Name=5 NA rs710415 0.45 0.45 0.48 0.477835 0.2972 0.4732 0.2896 0.8169 0.3436 0.29 0.44 0.35 0.78 0.3337 0.78 0.01 D 0.0 B 0.0 B . . 1.000 P . . 1.17 T -1.024 T 0.000 T 0.068 1.347 10.42 -0.778 -0.503 -0.005 3.692 1.346628 1.346628 0.16 0.283837 0.70699 NA 0.478 NA 9.4185964 710 3 124731485 124731485 C G exonic HEG1 NA nonsynonymous SNV HEG1:NM_020733:exon6:c.G2938C:p.V980L exonic ENSG00000173706 NA nonsynonymous SNV ENSG00000173706:ENST00000311127:exon6:c.G2938C:p.V980L NA NA 3q21.2 NA NA NA NA rs10804567 0.73 0.73 0.7 0.746206 0.6262 0.9286 0.7363 0.6596 0.8057 0.65 0.92 0.68 0.65 0.6847 0.92 0.97 T 0.0 B 0.0 B 0.429 N 1.000 P -2.015 N -2.24 D -0.957 T 0.000 T 0.041 -1.056 0.188 -9.01 -2.011 -1.876 4.606 -1.056212 NA 0.65 0.603942 0.666352 NA 0.58 NA 9.4184914 710 5 56209735 56209735 A G exonic SETD9 NA nonsynonymous SNV SETD9:NM_001171990:exon4:c.A625G:p.K209E,SETD9:NM_153706:exon4:c.A625G:p.K209E exonic ENSG00000155542 NA nonsynonymous SNV ENSG00000155542:ENST00000285947:exon4:c.A625G:p.K209E,ENSG00000155542:ENST00000541720:exon4:c.A625G:p.K209E Score=552;Name=lod=233 NA 5q11.2 NA NA NA NA rs40497 0.17 0.17 0.168 0.142772 0.335 0.0308 0.1772 0.0794 0.1217 0.32 0.03 0.2 0.08 0.2417 0.34 0.79 T 0.105 B 0.009 B 0.003 N 1.000 P 1.87 L 1.49 T -0.967 T 0.000 T 0.063 2.227 13.4 3.33 1.008 0.552 7.101 2.227366 2.227366 0.78 0.338256 0.120064 NA 0.13 NA 9.4183774 710 22 31491295 31491295 G C exonic SMTN NA nonsynonymous SNV SMTN:NM_001207018:exon11:c.G1807C:p.A603P,SMTN:NM_006932:exon12:c.G1639C:p.A547P,SMTN:NM_134269:exon12:c.G1639C:p.A547P,SMTN:NM_134270:exon12:c.G1639C:p.A547P,SMTN:NM_001207017:exon13:c.G1894C:p.A632P exonic ENSG00000183963 NA nonsynonymous SNV ENSG00000183963:ENST00000404574:exon2:c.G436C:p.A146P,ENSG00000183963:ENST00000455608:exon2:c.G70C:p.A24P,ENSG00000183963:ENST00000333137:exon12:c.G1639C:p.A547P,ENSG00000183963:ENST00000347557:exon12:c.G1639C:p.A547P,ENSG00000183963:ENST00000358743:exon12:c.G1639C:p.A547P Score=385;Name=lod=49 NA 22q12.2 NA NA NA NA rs3205187 0.48 0.48 0.484 0.491613 0.672 0.123 0.5159 0.5159 0.636 0.67 0.1 0.56 0.54 0.5816 0.67 1 T 0.0 B 0.002 B 0.002 N 0.000 P -0.895 N 1.94 T -0.975 T 0.000 T 0.1 -0.47 1.831 3.9 1.495 1.084 11.344 -0.469884 NA 1 0.663605 0.497049 NA 0.543 NA 9.4161284 711 8 27903069 27903069 C T exonic NUGGC NA nonsynonymous SNV NUGGC:NM_001010906:exon12:c.G1421A:p.S474N exonic ENSG00000189233 NA nonsynonymous SNV ENSG00000189233:ENST00000341513:exon12:c.G1421A:p.S474N,ENSG00000189233:ENST00000413272:exon12:c.G1421A:p.S474N Score=414;Name=lod=64 NA 8p21.1 NA NA NA NA rs13279787 0.38 0.38 0.355 0.378195 0.2972 0.4375 0.4092 0.4304 0.3078 0.3 0.45 0.37 0.44 0.3412 0.45 0.39 T 0.001 B 0.001 B 0.005 N 0.990 P 0.345 N 1.49 T -0.901 T 0.000 T 0.002 0.616 7.315 2.29 1.181 0.340 6.573 0.615758 NA 0.17 0.281197 0.378898 NA 0.391 NA 9.4137364 711 5 153413390 153413390 C T exonic FAM114A2 NA nonsynonymous SNV FAM114A2:NM_018691:exon4:c.G364A:p.G122S exonic ENSG00000055147 NA nonsynonymous SNV ENSG00000055147:ENST00000520313:exon3:c.G154A:p.G52S,ENSG00000055147:ENST00000351797:exon4:c.G364A:p.G122S,ENSG00000055147:ENST00000522395:exon4:c.G364A:p.G122S,ENSG00000055147:ENST00000522858:exon4:c.G364A:p.G122S,ENSG00000055147:ENST00000523705:exon4:c.G364A:p.G122S,ENSG00000055147:ENST00000519808:exon5:c.G364A:p.G122S,ENSG00000055147:ENST00000520667:exon5:c.G364A:p.G122S Score=598;Name=lod=358 NA 5q33.2 NA NA NA NA rs2578377 0.71 0.71 0.692 0.716254 0.6262 0.8581 0.7161 0.6256 0.7853 0.64 0.87 0.67 0.64 0.6749 0.87 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.625 N 1.22 T -0.958 T 0.000 T 0.265 1.547 11.13 5.93 1.074 5.922 12.161 1.547196 1.547196 1 0.623052 0.648888 NA 0.674 NA 9.4091814 711 17 1673276 1673276 C T exonic SERPINF1 NA nonsynonymous SNV SERPINF1:NM_002615:exon3:c.C215T:p.T72M exonic ENSG00000132386 NA nonsynonymous SNV ENSG00000132386:ENST00000254722:exon3:c.C215T:p.T72M,ENSG00000132386:ENST00000570731:exon3:c.C215T:p.T72M,ENSG00000132386:ENST00000571149:exon3:c.C215T:p.T72M,ENSG00000132386:ENST00000571360:exon3:c.C176T:p.T59M,ENSG00000132386:ENST00000573770:exon3:c.C215T:p.T72M,ENSG00000132386:ENST00000577053:exon3:c.C215T:p.T72M NA NA 17p13.3 NA Name=ZNF263 Name=42 NA rs1136287 0.65 0.65 0.688 0.626198 0.6541 0.4871 0.5893 0.8759 0.4294 0.63 0.5 0.62 0.86 0.6188 0.86 0.18 T 0.005 B 0.006 B 0.000 N 1.000 P 0.805 L -1.87 D -0.955 T 0.000 T 0.283 1.046 9.272 -11.3 -2.772 -0.750 5.207 1.045905 NA 0.1 0.65186 0.82887 ID=COSM1381146;OCCURENCE=1(large_intestine) 0.71 NA 9.4085734 711 14 94933473 94933473 C A exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_175739:exon3:c.G929T:p.R310I,SERPINA9:NM_001042518:exon4:c.G629T:p.R210I exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000337425:exon3:c.G929T:p.R310I,ENSG00000170054:ENST00000380365:exon3:c.G875T:p.R292I,ENSG00000170054:ENST00000448305:exon3:c.G635T:p.R212I,ENSG00000170054:ENST00000546329:exon3:c.G821T:p.R274I,ENSG00000170054:ENST00000298845:exon4:c.G629T:p.R210I,ENSG00000170054:ENST00000424550:exon4:c.G482T:p.R161I NA NA 14q32.13 Score=901;Name=V$ZID_01 NA NA NA rs28618118 0.33 0.33 0.296 0.322284 0.3101 0.4643 0.3847 0.1452 0.3834 0.32 0.48 0.35 0.16 0.3146 0.48 0.4 T 0.03 B 0.02 B 0.007 N 1.000 P 1.125 L -1.87 D -0.973 T 0.000 T 0.099 1.779 11.91 2.57 0.790 -0.880 9.319 1.778992 1.778992 0.02 0.300406 0.160732 NA 0.268 NA 9.4082274 711 8 144895669 144895669 G A exonic SCRIB NA synonymous SNV SCRIB:NM_015356:exon5:c.C474T:p.L158L,SCRIB:NM_182706:exon5:c.C474T:p.L158L exonic ENSG00000180900 NA synonymous SNV ENSG00000180900:ENST00000320476:exon5:c.C474T:p.L158L,ENSG00000180900:ENST00000356994:exon5:c.C474T:p.L158L,ENSG00000180900:ENST00000377533:exon5:c.C231T:p.L77L Score=558;Name=lod=246 NA 8q24.3 Score=872;Name=V$COUP_01 Name=c-Myc Name=6 NA rs56748182 0.05 0.05 0.049 0.0411342 0.0994 0.0248 0.0504 0.0106 0.0327 0.1 0.02 0.07 0.01 0.0702 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.750709 1.750709 NA 0.091047 0.023377 NA 0.058 NA 9.4060196 711 8 144917880 144917880 G A exonic NRBP2 NA synonymous SNV NRBP2:NM_178564:exon18:c.C1458T:p.A486A exonic ENSG00000185189 NA synonymous SNV ENSG00000185189:ENST00000327830:exon17:c.C729T:p.A243A,ENSG00000185189:ENST00000442628:exon18:c.C1458T:p.A486A NA NA 8q24.3 NA NA NA NA rs72693365 0.05 0.05 0.042 0.0425319 0.0944 0.0109 0.0504 0.0106 0.0593 0.09 0.01 0.07 0.01 0.0745 0.092 . . . . . . . . 0.002 P . . . . -1.030 T 0.002 T . 1.684 11.59 -5.0 -1.097 -2.313 2.289 1.684044 1.684044 NA 0.091998 0.023398 NA 0.051 NA 9.4057686 712 4 1730299 1730299 A G exonic TACC3 NA synonymous SNV TACC3:NM_006342:exon4:c.A1170G:p.A390A exonic ENSG00000013810 NA synonymous SNV ENSG00000013810:ENST00000313288:exon4:c.A1170G:p.A390A NA NA 4p16.3 NA Name=HA-E2F1 NA NA rs798759 0.32 0.32 0.308 0.30631 0.4394 0.1597 0.3184 0.3245 0.2873 0.44 0.18 0.32 0.29 0.3737 0.45 . . . . . . . . 1.000 P . . . . -0.948 T 0.000 T . 0.129 4.696 -4.59 -1.208 -1.073 7.277 0.129352 NA NA 0.450698 0.354517 NA 0.428 NA 9.4028686 712 14 39777676 39777676 G C exonic CTAGE5 NA nonsynonymous SNV CTAGE5:NM_001247988:exon13:c.G991C:p.E331Q,CTAGE5:NM_001247989:exon13:c.G1093C:p.E365Q,CTAGE5:NM_001247990:exon13:c.G853C:p.E285Q,CTAGE5:NM_005930:exon13:c.G1078C:p.E360Q,CTAGE5:NM_203354:exon13:c.G1042C:p.E348Q,CTAGE5:NM_203355:exon13:c.G1078C:p.E360Q,CTAGE5:NM_203356:exon13:c.G991C:p.E331Q exonic ENSG00000150527,ENSG00000258941 NA nonsynonymous SNV ENSG00000150527:ENST00000553352:exon12:c.G991C:p.E331Q,ENSG00000150527:ENST00000557038:exon12:c.G838C:p.E280Q,ENSG00000150527:ENST00000280083:exon13:c.G1078C:p.E360Q,ENSG00000150527:ENST00000341502:exon13:c.G1078C:p.E360Q,ENSG00000150527:ENST00000341749:exon13:c.G1042C:p.E348Q,ENSG00000150527:ENST00000348007:exon13:c.G1078C:p.E360Q,ENSG00000150527:ENST00000396158:exon13:c.G1093C:p.E365Q,ENSG00000150527:ENST00000396165:exon13:c.G991C:p.E331Q,ENSG00000150527:ENST00000556148:exon13:c.G853C:p.E285Q,ENSG00000258941:ENST00000603904:exon13:c.G991C:p.E331Q,ENSG00000258941:ENST00000553728:exon17:c.G2683C:p.E895Q Score=243;Name=lod=13 NA 14q21.1 NA NA NA NA rs1950952 0.54 0.54 0.507 0.535942 0.6511 0.4177 0.5605 0.4387 0.6534 0.65 0.44 0.59 0.44 0.6187 0.66 . . 0.154 B 0.139 B . . 0.998 P 1.615 L 2.27 T -0.900 T 0.000 T 0.074 2.15 13.15 4.5 1.266 2.215 8.212 2.150357 2.150357 0.48 0.661716 0.469473 NA 0.601 NA 9.4018174 712 1 110279701 110279701 C T exonic GSTM3 NA nonsynonymous SNV GSTM3:NM_000849:exon9:c.G670A:p.V224I exonic ENSG00000134202 NA nonsynonymous SNV ENSG00000134202:ENST00000256594:exon8:c.G670A:p.V224I,ENSG00000134202:ENST00000361066:exon9:c.G670A:p.V224I,ENSG00000134202:ENST00000540225:exon9:c.G670A:p.V224I NA NA 1p13.3 NA Name=CTCF NA NA rs7483 0.38 0.38 0.345 0.360623 0.2962 0.7252 0.4035 0.0628 0.4233 0.31 0.73 0.36 0.09 0.3415 0.73 1 T 0.0 B 0.0 B 0.632 N 1.000 P -0.69 N 4.94 T -0.926 T 0.000 T 0.095 -1.711 0.011 -5.25 -0.786 -1.859 1.767 -1.711288 NA 1 0.296512 0.111893 NA 0.304 NA 9.3991214 712 6 31378425 31378425 A G exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon2:c.A176G:p.Y59C,MICA:NM_001177519:exon2:c.A176G:p.Y59C exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon2:c.A137G:p.Y46C,ENSG00000204520:ENST00000449934:exon2:c.A176G:p.Y59C NA NA 6p21.33 NA NA NA NA rs1051786 0.37 0.37 0.34 0.364816 0.3141 0.3006 0.4078 0.4788 0.2986 0.32 0.28 0.47 0.46 0.3314 0.47 0.22 T 0.078 B 0.054 B 0.870 N 1.000 P . . 3.86 T -0.930 T 0.002 T 0.217 0.022 4.126 -5.5 -2.184 -3.180 3.654 0.021662 NA 0.22 0.288812 0.418353 NA 0.304 NA 9.3990214 712 10 102824349 102824349 G C exonic KAZALD1 NA nonsynonymous SNV KAZALD1:NM_030929:exon4:c.G764C:p.G255A exonic ENSG00000107821 NA nonsynonymous SNV ENSG00000107821:ENST00000370200:exon4:c.G764C:p.G255A Score=448;Name=lod=88 NA 10q24.31 NA NA NA NA rs807037 0.58 0.58 0.572 0.595647 0.6461 0.4921 0.549 0.6241 0.6452 0.65 0.44 0.59 0.63 0.6265 0.66 1 T 0.0 B 0.0 B 0.000 N 0.988 P -2.155 N 0.6 T -0.919 T 0.000 T 0.119 0.948 8.866 5.53 1.349 6.064 16.587 0.948041 NA 1 0.662442 0.631185 NA 0.529 NA 9.3982914 712 11 123894402 123894402 A G exonic OR10G9 NA nonsynonymous SNV OR10G9:NM_001001953:exon1:c.A683G:p.H228R exonic ENSG00000236981 NA nonsynonymous SNV ENSG00000236981:ENST00000375024:exon1:c.A683G:p.H228R Score=317;Name=lod=26 NA 11q24.1 NA NA NA NA rs12221656 0.28 0.28 0.227 0.325479 0.2922 0.505 0.4568 0.1664 0.2965 0.24 0.42 0.35 0.12 0.3337 0.42 1 T 0.0 B 0.0 B 0.231 N 1.000 P -0.855 N 1.36 T -0.924 T 0.000 T 0.102 -2.265 0.004 2.52 0.297 -1.055 3.881 -2.264974 NA 1 0.310537 0.194684 ID=COSM147361;OCCURENCE=1(stomach) 0.261 NA 9.3968964 712 9 94495608 94495608 T C exonic ROR2 NA nonsynonymous SNV ROR2:NM_004560:exon6:c.A733G:p.T245A exonic ENSG00000169071 NA nonsynonymous SNV ENSG00000169071:ENST00000375708:exon6:c.A733G:p.T245A,ENSG00000169071:ENST00000375715:exon6:c.A313G:p.T105A Score=668;Name=lod=692 NA 9q22.31 Score=845;Name=V$P300_01 NA NA NA rs10820900 0.63 0.63 0.589 0.644968 0.659 0.5268 0.5159 0.7587 0.6902 0.66 0.51 0.53 0.78 0.6318 0.78 1 T 0.0 B 0.004 B 0.025 N 1.000 P 0.425 N -0.89 T -0.925 T 0.000 T 0.037 0.335 5.817 3.45 1.109 0.861 4.185 0.334936 NA 1 0.645814 0.743305 ID=COSM1569878;OCCURENCE=1(large_intestine) 0.478 NA 9.3967194 713 9 79946961 79946961 C T exonic VPS13A NA synonymous SNV VPS13A:NM_001018037:exon45:c.C5910T:p.Y1970Y,VPS13A:NM_001018038:exon46:c.C6027T:p.Y2009Y,VPS13A:NM_015186:exon46:c.C6027T:p.Y2009Y,VPS13A:NM_033305:exon46:c.C6027T:p.Y2009Y exonic ENSG00000197969 NA synonymous SNV ENSG00000197969:ENST00000376636:exon45:c.C5910T:p.Y1970Y,ENSG00000197969:ENST00000357409:exon46:c.C6027T:p.Y2009Y,ENSG00000197969:ENST00000360280:exon46:c.C6027T:p.Y2009Y,ENSG00000197969:ENST00000376634:exon46:c.C6027T:p.Y2009Y Score=393;Name=lod=53 NA 9q21.2 Score=806;Name=V$IRF7_01 NA NA NA rs17424026 0.08 0.08 0.083 0.0688898 0.0954 0.1091 0.0576 0.0325 0.0573 0.1 0.11 0.05 0.05 0.0872 0.11 . . . . . . . . 0.000 P . . . . -1.036 T 0.004 T . 0.686 7.668 1.82 0.150 1.220 9.604 0.686428 NA NA 0.090951 0.054698 NA 0.036 NA 9.3931156 713 14 91925027 91925027 G T UTR3 SMEK1 NM_032560:c.*76C>A NA NA UTR3 ENSG00000100796 ENST00000428424:c.*76C>A,ENST00000337238:c.*76C>A,ENST00000554684:c.*76C>A,ENST00000554943:c.*76C>A,ENST00000555462:c.*76C>A NA NA Score=489;Name=lod=129 NA 14q32.12 NA NA Name=3 NA rs10135595 0.48 0.48 0.452 0.460064 0.4712 0.4673 0.4481 0.4917 0.407 0.5 0.47 0.44 0.52 0.4699 0.52 0 D . . . . . . 0.000 P . . . . -0.901 T 0.000 T . 0.679 7.633 4.08 0.802 2.196 8.703 0.679251 NA NA NA NA NA 0.442 NA 9.3922334 713 17 1456318 1456318 G A exonic PITPNA NA synonymous SNV PITPNA:NM_006224:exon3:c.C177T:p.H59H exonic ENSG00000174238 NA synonymous SNV ENSG00000174238:ENST00000313486:exon3:c.C177T:p.H59H,ENSG00000174238:ENST00000539476:exon3:c.C177T:p.H59H,ENSG00000174238:ENST00000573056:exon3:c.C243T:p.H81H,ENSG00000174238:ENST00000575288:exon3:c.C177T:p.H59H Score=594;Name=lod=346 NA 17p13.3 Score=855;Name=V$FREAC3_01 Name=BATF Name=5 NA rs2230463 0.05 0.05 0.043 0.038738 0.0954 0.0069 0.0418 0.0189 0.0378 0.1 0.01 0.05 0.02 0.0754 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226694 NA NA 0.105712 0.028722 NA 0.051 NA 9.3901546 713 10 123996976 123996976 G A exonic TACC2 NA nonsynonymous SNV TACC2:NM_206860:exon10:c.G2338A:p.A780T,TACC2:NM_006997:exon11:c.G2428A:p.A810T,TACC2:NM_206861:exon14:c.G2632A:p.A878T,TACC2:NM_206862:exon17:c.G8194A:p.A2732T exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000496913:exon7:c.G1168A:p.A390T,ENSG00000138162:ENST00000360561:exon10:c.G2338A:p.A780T,ENSG00000138162:ENST00000369000:exon10:c.G1063A:p.A355T,ENSG00000138162:ENST00000260733:exon11:c.G2428A:p.A810T,ENSG00000138162:ENST00000369001:exon11:c.G1075A:p.A359T,ENSG00000138162:ENST00000369004:exon11:c.G2374A:p.A792T,ENSG00000138162:ENST00000368999:exon12:c.G2464A:p.A822T,ENSG00000138162:ENST00000358010:exon13:c.G2632A:p.A878T,ENSG00000138162:ENST00000453444:exon13:c.G7975A:p.A2659T,ENSG00000138162:ENST00000513429:exon14:c.G2632A:p.A878T,ENSG00000138162:ENST00000515273:exon14:c.G7975A:p.A2659T,ENSG00000138162:ENST00000515603:exon14:c.G7828A:p.A2610T,ENSG00000138162:ENST00000334433:exon16:c.G8194A:p.A2732T,ENSG00000138162:ENST00000369005:exon17:c.G8194A:p.A2732T NA NA 10q26.13 NA NA Name=4 NA rs2295879 0.25 0.25 0.235 0.269169 0.339 0.2351 0.2925 0.1286 0.4059 0.35 0.23 0.26 0.13 0.3028 0.35 0.71 T 0.022 B 0.009 B 0.547 N 1.000 P -0.345 N 4.11 T -0.924 T 0.000 T 0.137 -0.105 3.486 -6.6 -1.413 -0.946 7.101 -0.104786 NA 0.73 0.302093 0.159101 NA 0.239 NA 9.3894404 713 14 20852817 20852817 G A exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon22:c.C3163T:p.R1055C exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000555008:exon10:c.C1213T:p.R405C,ENSG00000129566:ENST00000556935:exon20:c.C2839T:p.R947C,ENSG00000129566:ENST00000262715:exon22:c.C3163T:p.R1055C,ENSG00000129566:ENST00000555727:exon22:c.C3163T:p.R1055C NA NA 14q11.2 NA NA NA NA rs1760903 0.58 0.58 0.589 0.633387 0.4573 0.6121 0.5994 0.7837 0.6575 0.46 0.6 0.56 0.74 0.5323 0.74 0.06 T 0.987 D 0.555 P 0.435 N 1.000 P 1.5 L 2.18 T -0.950 T 0.000 T 0.07 0.619 7.33 3.21 0.576 1.437 8.359 0.61875 NA 0.09 0.454651 0.738992 NA 0.551 NA 9.3890824 713 12 118509191 118509191 G A exonic VSIG10 NA nonsynonymous SNV VSIG10:NM_019086:exon6:c.C1303T:p.H435Y exonic ENSG00000176834 NA nonsynonymous SNV ENSG00000176834:ENST00000359236:exon6:c.C1303T:p.H435Y Score=329;Name=lod=29 NA 12q24.23 NA NA NA NA rs7307331 0.53 0.53 0.522 0.541933 0.2813 0.7808 0.5072 0.7337 0.3292 0.27 0.76 0.46 0.71 0.3774 0.76 0.88 T 0.0 B 0.0 B 0.002 N 1.000 P -2.125 N 0.84 T -0.956 T 0.000 T 0.06 -0.891 0.457 5.15 0.926 3.890 11.262 -0.890959 NA 1 0.287172 0.646919 NA 0.471 NA 9.3874614 713 16 22144318 22144318 C T exonic VWA3A NA nonsynonymous SNV VWA3A:NM_173615:exon20:c.C1970T:p.T657I exonic ENSG00000175267 NA nonsynonymous SNV ENSG00000175267:ENST00000563389:exon2:c.C116T:p.T39I,ENSG00000175267:ENST00000389398:exon20:c.C1970T:p.T657I,ENSG00000175267:ENST00000568328:exon21:c.C2033T:p.T678I NA NA 16p12.2 NA NA NA NA rs1105929 0.51 0.51 0.549 0.599042 0.2734 0.7788 0.353 0.8177 0.6278 0.28 0.74 0.33 0.75 0.4011 0.75 0.54 T 0.002 B 0.01 B 0.726 N 1.000 P -0.41 N 1.91 T -0.993 T 0.000 T 0.427 -0.913 0.412 -5.8 -1.309 -2.116 12.339 -0.91276 NA 0.58 0.271654 0.693117 NA 0.507 NA 9.3871794 713 8 22570935 22570935 T C exonic PEBP4 NA nonsynonymous SNV PEBP4:NM_144962:exon7:c.A632G:p.E211G exonic ENSG00000134020 NA nonsynonymous SNV ENSG00000134020:ENST00000256404:exon7:c.A632G:p.E211G NA NA 8p21.3 NA NA NA NA rs1047406 0.32 0.32 0.265 0.286342 0.3231 0.2996 0.4582 0.2413 0.1738 0.32 0.29 0.43 0.26 0.3091 0.43 0.69 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N 1.42 T -0.981 T 0.000 T 0.02 -0.816 0.635 -8.31 -2.217 -3.186 0.224 -0.815731 NA 0.38 0.314636 0.264706 NA 0.246 NA 9.3864974 714 19 4236996 4236996 G A exonic EBI3 NA nonsynonymous SNV EBI3:NM_005755:exon5:c.G601A:p.V201I exonic ENSG00000105246 NA nonsynonymous SNV ENSG00000105246:ENST00000221847:exon5:c.G601A:p.V201I NA NA 19p13.3 NA NA NA NA rs4740 0.41 0.41 0.407 0.448482 0.3052 0.4415 0.2738 0.6233 0.4908 0.31 0.44 0.28 0.6 0.3591 0.6 0.44 T 0.06 B 0.023 B 0.410 N 1.000 P 0.02 N 0.29 T -1.000 T 0.000 T 0.087 -0.279 2.664 -8.95 -2.080 -1.447 20.474 -0.279141 NA 0.75 0.285581 0.583749 NA 0.399 NA 9.3834524 714 2 242716380 242716380 A T exonic GAL3ST2 NA nonsynonymous SNV GAL3ST2:NM_022134:exon1:c.A10T:p.M4L exonic ENSG00000154252 NA nonsynonymous SNV ENSG00000154252:ENST00000192314:exon1:c.A10T:p.M4L NA NA 2q37.3 NA NA NA NA rs12469459 0.38 0.38 0.406 0.370407 0.3052 0.3978 0.2392 0.5416 0.271 0.3 0.4 0.27 0.56 0.3455 0.56 1 T 0.0 B 0.0 B 0.000 U 1.000 P 0 N 2.72 T -0.929 T 0.000 T 0.059 -2.213 0.005 -3.88 -1.477 -2.059 0.425 -2.212774 NA 0.75 0.301 0.479573 NA 0.413 NA 9.3816334 714 21 46101939 46101939 C T exonic KRTAP12-1 NA nonsynonymous SNV KRTAP12-1:NM_181686:exon1:c.G100A:p.V34M exonic ENSG00000187175 NA nonsynonymous SNV ENSG00000187175:ENST00000391617:exon1:c.G100A:p.V34M NA NA 21q22.3 NA NA NA NA rs9984476 0.11 0.11 0.094 0.123203 0.1461 0.0813 0.121 0.0946 0.183 0.15 0.08 0.12 0.08 0.1463 0.16 0 D 0.932 P 0.36 B . . 1.000 P . . 4.95 T -0.877 T 0.000 T 0.029 1.458 10.82 -1.71 -0.476 -1.796 6.365 1.458239 1.458239 0.02 0.160426 0.087872 NA 0.058 NA 9.3805074 714 3 42728144 42728144 A G exonic KLHL40 NA nonsynonymous SNV KLHL40:NM_152393:exon1:c.A1034G:p.N345S exonic ENSG00000157119 NA nonsynonymous SNV ENSG00000157119:ENST00000287777:exon1:c.A1034G:p.N345S Score=581;Name=lod=305 NA 3p22.1 NA NA NA NA rs6805421 0.65 0.65 0.617 0.622604 0.672 0.8343 0.5922 0.3638 0.7249 0.67 0.8 0.63 0.43 0.6489 0.8 0.83 T 0.002 B 0.001 B 0.000 D 0.999 P -0.55 N -0.19 T -0.958 T 0.000 T 0.004 0.527 6.854 3.24 0.518 1.917 11.030 0.526858 NA 0.22 0.634186 0.414889 ID=COSM149365;OCCURENCE=1(stomach),1(large_intestine) 0.486 NA 9.3782474 714 5 179290845 179290845 T G exonic TBC1D9B NA nonsynonymous SNV TBC1D9B:NM_015043:exon21:c.A3305C:p.K1102T,TBC1D9B:NM_198868:exon22:c.A3356C:p.K1119T exonic ENSG00000197226 NA nonsynonymous SNV ENSG00000197226:ENST00000444477:exon8:c.A779C:p.K260T,ENSG00000197226:ENST00000519746:exon8:c.A833C:p.K278T,ENSG00000197226:ENST00000355235:exon21:c.A3305C:p.K1102T,ENSG00000197226:ENST00000356834:exon22:c.A3356C:p.K1119T NA NA 5q35.3 NA NA NA NA rs30386 0.54 0.54 0.509 0.576478 0.4493 0.7748 0.67 0.4289 0.636 0.43 0.78 0.62 0.39 0.5467 0.78 0.27 T 0.734 P 0.203 B 0.007 N 1.000 P 1.5 L 1.0 T -1.034 T 0.000 T 0.479 -0.643 1.164 5.37 2.027 1.367 11.382 -0.642875 NA 0.28 0.459419 0.459147 NA 0.507 NA 9.3779144 714 5 157164962 157164962 T C exonic THG1L NA nonsynonymous SNV THG1L:NM_017872:exon5:c.T695C:p.L232P exonic ENSG00000113272 NA nonsynonymous SNV ENSG00000113272:ENST00000231198:exon5:c.T695C:p.L232P Score=605;Name=lod=382 NA 5q33.3 NA NA NA NA rs2270812 0.7 0.7 0.706 0.709065 0.6471 0.8125 0.5086 0.7738 0.7209 0.66 0.8 0.55 0.76 0.6611 0.8 1 T 0.0 B 0.0 B 0.000 N 0.013 P -2.38 N 1.42 T -0.951 T 0.000 T 0.544 0.53 6.87 5.58 1.503 4.779 15.078 0.529873 NA 1 0.647674 0.751021 NA 0.645 NA 9.3774594 714 11 123777736 123777736 T C exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.T598C:p.F200L exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.T598C:p.F200L NA NA 11q24.1 NA NA NA NA rs10790610 0.27 0.27 0.241 0.267772 0.3141 0.378 0.3271 0.0794 0.319 0.32 0.35 0.28 0.08 0.3102 0.35 0.56 T 0.025 B 0.05 B 0.000 D 0.982 P 0.58 N 8.84 T -1.248 T 0.000 T 0.087 1.443 10.76 3.39 1.035 0.367 7.585 1.442552 1.442552 0.59 0.331705 0.127384 NA 0.319 NA 9.3773284 714 3 99643176 99643176 C T exonic FILIP1L NA nonsynonymous SNV FILIP1L:NM_001042459:exon4:c.G503A:p.R168H,FILIP1L:NM_182909:exon4:c.G503A:p.R168H exonic ENSG00000168386 NA nonsynonymous SNV ENSG00000168386:ENST00000331335:exon4:c.G503A:p.R168H,ENSG00000168386:ENST00000354552:exon4:c.G503A:p.R168H,ENSG00000168386:ENST00000398326:exon4:c.G503A:p.R168H Score=608;Name=lod=396 NA 3q12.1 NA NA NA NA rs793440 0.24 0.24 0.208 0.253395 0.3111 0.1954 0.3545 0.1558 0.3139 0.33 0.14 0.33 0.16 0.3131 0.33 1 T 0.0 B 0.0 B 0.033 N 0.000 P -2.605 N 1.0 T -0.968 T 0.000 T 0.065 0.178 4.956 5.5 0.931 5.664 11.516 0.177581 NA 1 0.333007 0.19375 NA 0.174 NA 9.3761264 714 19 6897464 6897464 C G exonic;splicing EMR1;EMR1 NM_001256255:exon5:c.418+2C>G nonsynonymous SNV EMR1:NM_001256252:exon4:c.C264G:p.S88R,EMR1:NM_001256253:exon5:c.C420G:p.S140R,EMR1:NM_001974:exon5:c.C420G:p.S140R exonic;splicing ENSG00000174837;ENSG00000174837 ENST00000450315:exon5:c.418+2C>G nonsynonymous SNV ENSG00000174837:ENST00000595026:exon3:c.C318G:p.S106R,ENSG00000174837:ENST00000381404:exon4:c.C264G:p.S88R,ENSG00000174837:ENST00000250572:exon5:c.C420G:p.S140R,ENSG00000174837:ENST00000312053:exon5:c.C420G:p.S140R NA NA 19p13.3 NA NA NA NA rs330880 0.47 0.47 0.5 0.501797 0.2734 0.4831 0.4496 0.8328 0.3456 0.26 0.51 0.41 0.8 0.378 0.8 0.54 T 0.001 B 0.007 B . . 1.000 P 1.1 L -2.95 D -0.968 T 0.000 T 0.056 -0.25 2.796 -3.22 -0.762 -1.976 5.443 -0.250332 NA 0.48 0.305814 0.728779 NA 0.486 NA 9.3761194 714 19 44055726 44055726 T C exonic XRCC1 NA nonsynonymous SNV XRCC1:NM_006297:exon10:c.A1196G:p.Q399R exonic ENSG00000073050 NA nonsynonymous SNV ENSG00000073050:ENST00000543982:exon9:c.A1103G:p.Q368R,ENSG00000073050:ENST00000262887:exon10:c.A1196G:p.Q399R Score=582;Name=lod=309 NA 19q13.31 Score=938;Name=V$LYF1_01 NA NA NA rs25487 0.74 0.74 0.727 0.739617 0.6342 0.7649 0.6873 0.8896 0.6564 0.65 0.75 0.69 0.88 0.6834 0.88 1 T 0.0 B 0.0 B 0.000 N 0.999 P . . 2.85 T -0.976 T 0.000 T 0.033 -0.568 1.441 4.13 0.842 1.854 7.732 -0.567604 NA 0.84 0.639651 0.844984 NA 0.754 NA 9.3760824 714 22 18301693 18301693 T C exonic MICAL3 NA nonsynonymous SNV MICAL3:NM_015241:exon26:c.A3734G:p.Q1245R exonic ENSG00000243156 NA nonsynonymous SNV ENSG00000243156:ENST00000441493:exon26:c.A3734G:p.Q1245R NA NA 22q11.21 NA NA NA NA rs8135914 0.25 0.25 0.214 0.254992 0.331 0.0893 0.2161 0.3812 0.2045 0.31 0.08 0.24 0.37 0.3003 0.37 0.67 T 0.0 B 0.0 B . . 1.000 P 0.345 N 0.04 T -0.949 T 0.000 T 0.016 0.193 5.042 -4.25 -1.684 -1.645 6.364 0.193465 NA 0.57 0.325966 0.332305 NA 0.21 NA 9.3760674 715 1 243329075 243329075 T C exonic CEP170 NA synonymous SNV CEP170:NM_001042404:exon12:c.A1893G:p.K631K,CEP170:NM_001042405:exon12:c.A1893G:p.K631K,CEP170:NM_014812:exon13:c.A2187G:p.K729K exonic ENSG00000143702 NA synonymous SNV ENSG00000143702:ENST00000366543:exon12:c.A1893G:p.K631K,ENSG00000143702:ENST00000366544:exon12:c.A1893G:p.K631K,ENSG00000143702:ENST00000366542:exon13:c.A2187G:p.K729K Score=381;Name=lod=47 NA 1q43 NA NA NA NA rs2728432 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA 0.2923 NA 0.52 T . . . . 0.005 N 1.000 D . . 0.83 T -1.091 T 0.092 T . -0.779 0.733 2.17 0.238 0.760 6.111 -0.779384 NA NA NA NA NA NA NA 9.3743666 715 7 57188016 57188016 A G exonic ZNF479 NA nonsynonymous SNV ZNF479:NM_033273:exon5:c.T1106C:p.M369T exonic ENSG00000185177 NA nonsynonymous SNV ENSG00000185177:ENST00000331162:exon5:c.T1106C:p.M369T NA NA 7p11.2 NA Name=ZNF274 NA NA rs11981414 0.33 0.33 0.281 0.321685 0.2913 0.5427 0.379 0.0915 0.3957 0.3 0.59 0.32 0.09 0.3383 0.59 1 T 0.0 B 0.0 B . . 1.000 P -0.395 N 3.26 T -0.923 T 0.000 T 0.02 -3.605 0.001 -0.375 -2.973 -1.761 2.196 -3.605008 NA 1 0.33042 0.129851 ID=COSM150297;OCCURENCE=1(stomach) 0.196 NA 9.3733134 715 14 91948043 91948043 T C exonic SMEK1 NA synonymous SNV SMEK1:NM_032560:exon5:c.A792G:p.T264T exonic ENSG00000100796 NA synonymous SNV ENSG00000100796:ENST00000554390:exon4:c.A792G:p.T264T,ENSG00000100796:ENST00000554684:exon4:c.A792G:p.T264T,ENSG00000100796:ENST00000554943:exon4:c.A792G:p.T264T,ENSG00000100796:ENST00000337238:exon5:c.A792G:p.T264T Score=838;Name=lod=3402 NA 14q32.12 NA NA NA NA rs17127374 0.05 0.05 0.051 0.0465256 0.1163 0.003 0.0605 0.0204 0.045 0.1 0.01 0.07 0.02 0.0755 0.1 . . . . . . . . 1.000 D . . . . -1.032 T 0.004 T . 0.842 8.401 -2.82 -0.337 0.101 1.314 0.84192 NA NA 0.104186 0.036995 NA 0.051 NA 9.3706806 715 11 554214 554214 G C exonic LRRC56 NA nonsynonymous SNV LRRC56:NM_198075:exon14:c.G1567C:p.D523H exonic ENSG00000161328 NA nonsynonymous SNV ENSG00000161328:ENST00000270115:exon14:c.G1567C:p.D523H NA NA 11p15.5 NA NA NA NA rs10902171 0.81 0.81 0.797 0.791534 0.827 0.873 0.853 0.7057 0.7434 0.83 0.87 0.81 0.7 0.8171 0.87 0.16 T 0.983 D 0.615 P 0.457 N 1.000 P 0.805 L 2.85 T -1.097 T 0.000 T 0.075 2.235 13.43 2.51 1.030 1.982 6.766 2.235403 2.235403 0.21 0.820963 0.714091 NA 0.536 NA 9.3682704 715 8 90990479 90990479 C G exonic NBN NA nonsynonymous SNV NBN:NM_002485:exon5:c.G553C:p.E185Q exonic ENSG00000104320 NA nonsynonymous SNV ENSG00000104320:ENST00000517772:exon3:c.G307C:p.E103Q,ENSG00000104320:ENST00000265433:exon5:c.G553C:p.E185Q,ENSG00000104320:ENST00000409330:exon5:c.G307C:p.E103Q Score=548;Name=lod=225 NA 8q21.3 NA NA NA NA rs1805794 0.33 0.33 0.301 0.357029 0.3062 0.4673 0.3761 0.2307 0.453 0.31 0.46 0.34 0.22 0.3453 0.46 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.855 N 0.51 T -0.961 T 0.000 T 0.106 -0.041 3.805 3.08 0.091 2.133 13.939 -0.04088 NA 1 0.313605 0.233772 NA 0.341 NA 9.3682284 716 12 7242204 7242204 C T exonic C1R NA unknown UNKNOWN exonic ENSG00000159403 NA nonsynonymous SNV ENSG00000159403:ENST00000540610:exon3:c.G235A:p.E79K,ENSG00000159403:ENST00000535233:exon4:c.G448A:p.E150K,ENSG00000159403:ENST00000536053:exon4:c.G592A:p.E198K,ENSG00000159403:ENST00000542220:exon4:c.G550A:p.E184K,ENSG00000159403:ENST00000542285:exon4:c.G547A:p.E183K NA NA 12p13.31 NA NA NA NA rs1126605 0.17 0.17 0.168 0.17492 0.1014 0.3512 0.062 0.1513 0.181 0.1 0.36 0.07 0.15 0.1174 0.36 0.96 T 0.0 B 0.002 B 0.206 N 0.999 P . . -4.06 D -0.799 T 0.000 T 0.149 -1.079 0.163 -5.24 -1.367 -0.444 10.563 -1.079027 NA 1 0.083294 0.140244 NA 0.196 NA 9.3645727 716 3 197432029 197432029 C A exonic KIAA0226 NA synonymous SNV KIAA0226:NM_001145642:exon3:c.G57T:p.T19T,KIAA0226:NM_014687:exon3:c.G237T:p.T79T exonic ENSG00000145016 NA synonymous SNV ENSG00000145016:ENST00000273582:exon3:c.G57T:p.T19T,ENSG00000145016:ENST00000296343:exon3:c.G237T:p.T79T,ENSG00000145016:ENST00000389665:exon3:c.G237T:p.T79T,ENSG00000145016:ENST00000449205:exon3:c.G237T:p.T79T Score=548;Name=lod=225 NA 3q29 Score=786;Name=V$CDP_01 NA NA NA rs60457064 0.14 0.14 0.171 0.153355 0.1034 0.0308 0.0692 0.3699 0.0982 0.1 0.04 0.07 0.36 0.1055 0.36 . . . . . . . . 0.000 P . . . . . . . . . 1.38 10.54 -1.45 -0.430 -0.645 0.753 1.379884 1.379884 NA 0.094184 0.311724 NA 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117388.2;CLNDSDB=.;CLNDSDBID=. 9.3635826 716 16 72162966 72162966 G T exonic PMFBP1 NA nonsynonymous SNV PMFBP1:NM_031293:exon13:c.C1949A:p.T650K,PMFBP1:NM_001160213:exon14:c.C1514A:p.T505K exonic ENSG00000118557 NA nonsynonymous SNV ENSG00000118557:ENST00000537392:exon9:c.C1358A:p.T453K,ENSG00000118557:ENST00000237353:exon13:c.C1949A:p.T650K,ENSG00000118557:ENST00000355636:exon13:c.C1514A:p.T505K,ENSG00000118557:ENST00000537465:exon13:c.C1964A:p.T655K Score=369;Name=lod=42 NA 16q22.2 NA NA NA NA rs34832584 0.08 0.08 0.075 0.0870607 0.16 0.0228 0.0634 0.0113 0.1973 0.17 0.02 0.07 0.02 0.1458 0.17 0.83 T 0.586 P 0.13 B 0.016 N 0.000 P 0.55 N 2.81 T -0.972 T 0.000 T 0.208 -0.079 3.613 2.15 0.434 0.355 5.483 -0.079076 NA 0.18 0.163953 0.035032 NA 0.138 NA 9.3635804 716 1 170521376 170521376 G A exonic GORAB NA nonsynonymous SNV GORAB:NM_152281:exon5:c.G958A:p.E320K exonic ENSG00000120370 NA nonsynonymous SNV ENSG00000120370:ENST00000367763:exon5:c.G958A:p.E320K NA NA 1q24.2 NA NA NA NA rs913257 0.61 0.61 0.59 0.592652 0.4692 0.877 0.5865 0.5257 0.5215 0.49 0.91 0.51 0.53 0.5394 0.91 0.09 T 0.777 P 0.112 B 0.000 D 0.000 P 1.79 L -0.01 T -1.034 T 0.085 T 0.087 1.971 12.55 2.65 0.737 2.566 9.782 1.971203 1.971203 0.14 0.462674 0.531094 NA 0.623 NA 9.3620594 716 2 220422774 220422774 A G exonic OBSL1 NA synonymous SNV OBSL1:NM_001173431:exon11:c.T3561C:p.P1187P,OBSL1:NM_015311:exon11:c.T3561C:p.P1187P exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265317:exon3:c.T534C:p.P178P,ENSG00000124006:ENST00000265318:exon10:c.T3285C:p.P1095P,ENSG00000124006:ENST00000373876:exon11:c.T3561C:p.P1187P,ENSG00000124006:ENST00000404537:exon11:c.T3561C:p.P1187P,ENSG00000124006:ENST00000603926:exon11:c.T3561C:p.P1187P NA NA 2q35 Score=730;Name=V$NRSF_01 NA NA NA rs2278201 0.45 0.45 0.401 0.419129 0.4433 0.3839 0.5245 0.5113 0.2311 0.45 0.4 0.47 0.48 0.4303 0.5 . . . . . . . . 0.000 P . . . . -0.969 T 0.000 T . -1.289 0.04 -8.31 -2.193 -4.618 4.725 -1.288871 NA NA 0.433084 0.503268 NA 0.507 NA 9.3599826 716 10 108367020 108367020 C T exonic SORCS1 NA synonymous SNV SORCS1:NM_001013031:exon23:c.G3069A:p.A1023A,SORCS1:NM_001206569:exon23:c.G3069A:p.A1023A,SORCS1:NM_001206570:exon23:c.G3069A:p.A1023A,SORCS1:NM_001206571:exon23:c.G3069A:p.A1023A,SORCS1:NM_001206572:exon23:c.G3069A:p.A1023A,SORCS1:NM_052918:exon23:c.G3069A:p.A1023A exonic ENSG00000108018 NA synonymous SNV ENSG00000108018:ENST00000369698:exon15:c.G1674A:p.A558A,ENSG00000108018:ENST00000263054:exon23:c.G3069A:p.A1023A,ENSG00000108018:ENST00000344440:exon23:c.G3069A:p.A1023A NA NA 10q25.1 Score=855;Name=V$IK3_01 NA NA NA rs7082289 0.16 0.16 0.177 0.237021 0.0765 0.2401 0.0994 0.323 0.3804 0.08 0.22 0.1 0.27 0.1471 0.28 . . . . . . . . 0.000 P . . . . -1.017 T 0.000 T . 0.298 5.613 -11.8 -5.598 -2.984 9.601 0.297926 NA NA 0.083837 0.282796 NA 0.181 NA 9.3592296 716 3 134077470 134077470 C G exonic AMOTL2 NA nonsynonymous SNV AMOTL2:NM_016201:exon9:c.G2196C:p.E732D exonic ENSG00000114019 NA nonsynonymous SNV ENSG00000114019:ENST00000249883:exon9:c.G2196C:p.E732D,ENSG00000114019:ENST00000422605:exon9:c.G2193C:p.E731D,ENSG00000114019:ENST00000513145:exon9:c.G2187C:p.E729D,ENSG00000114019:ENST00000514516:exon9:c.G2367C:p.E789D NA NA 3q22.2 NA Name=CTCF_(SC-5916),Pol2,SMC3_(ab9263),CTCF,Rad21,CTCF_(C-20) Name=26 NA rs1353776 0.77 0.77 0.809 0.808706 0.6074 0.9246 0.7176 0.9357 0.7894 0.61 0.93 0.66 0.93 0.7111 0.93 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.905 N 2.6 T -0.860 T 0.000 T 0.014 -0.864 0.516 -11.0 -3.529 -2.805 9.742 -0.864124 NA 1 0.656977 0.874943 NA 0.783 NA 9.3578564 716 3 133341988 133341988 T C exonic TOPBP1 NA nonsynonymous SNV TOPBP1:NM_007027:exon19:c.A3125G:p.N1042S exonic ENSG00000163781 NA nonsynonymous SNV ENSG00000163781:ENST00000260810:exon19:c.A3125G:p.N1042S NA NA 3q22.1 NA NA NA NA rs10935070 0.18 0.18 0.152 0.187899 0.3588 0.0258 0.2997 0.0106 0.3395 0.36 0.03 0.26 0.01 0.2898 0.36 0.8 T 0.0 B 0.0 B 0.972 N 1.000 P 0.205 N 2.78 T -0.918 T 0.000 T 0.002 -0.378 2.223 -9.36 -2.029 -2.948 20.667 -0.377961 NA 0.57 0.327297 0.058791 NA 0.188 NA 9.3574364 716 16 20471450 20471450 G A exonic ACSM2A NA nonsynonymous SNV ACSM2A:NM_001010845:exon3:c.G14A:p.R5Q exonic ENSG00000183747 NA nonsynonymous SNV ENSG00000183747:ENST00000396104:exon1:c.G14A:p.R5Q,ENSG00000183747:ENST00000424070:exon2:c.G14A:p.R5Q,ENSG00000183747:ENST00000573854:exon2:c.G14A:p.R5Q,ENSG00000183747:ENST00000574692:exon2:c.G14A:p.R5Q,ENSG00000183747:ENST00000219054:exon3:c.G14A:p.R5Q,ENSG00000183747:ENST00000571894:exon3:c.G14A:p.R5Q,ENSG00000183747:ENST00000575690:exon3:c.G14A:p.R5Q,ENSG00000183747:ENST00000576361:exon3:c.G14A:p.R5Q NA NA 16p12.3 NA NA NA NA rs59292608 0.19 0.19 0.151 0.169529 0.172 0.4018 0.0706 0.0121 0.2106 0.19 0.4 0.08 0.01 0.1565 0.4 0.33 T 0.762 P 0.141 B 0.025 N 1.000 P 0 N 2.28 T -0.996 T 0.000 T 0.242 0.881 8.575 -4.66 -0.830 -1.073 0.439 0.880844 NA 0.16 0.147791 0.031321 ID=COSM148036;OCCURENCE=1(stomach) 0.109 NA 9.3570424 716 8 39872935 39872935 T A exonic IDO2 NA stopgain IDO2:NM_194294:exon11:c.T1077A:p.Y359X exonic ENSG00000188676 NA stopgain ENSG00000188676:ENST00000389060:exon10:c.T1038A:p.Y346X,ENSG00000188676:ENST00000502986:exon11:c.T1077A:p.Y359X Score=387;Name=lod=50 NA 8p11.21 NA NA NA NA rs4503083 0.25 0.25 0.237 0.229832 0.2107 0.3601 0.317 0.112 0.2127 0.21 0.4 0.29 0.09 0.2257 0.4 . . . . . . 0.001 N 0.000 P . . . . . . . . . 3.695 18.77 -2.22 -0.380 0.394 15.055 3.694799 3.694799 NA 0.207451 0.109727 NA 0.304 NA 9.356149 717 11 86161388 86161388 C G exonic ME3 NA nonsynonymous SNV ME3:NM_001014811:exon8:c.G972C:p.K324N,ME3:NM_001161586:exon9:c.G972C:p.K324N,ME3:NM_006680:exon9:c.G972C:p.K324N exonic ENSG00000151376 NA nonsynonymous SNV ENSG00000151376:ENST00000393324:exon8:c.G972C:p.K324N,ENSG00000151376:ENST00000359636:exon9:c.G972C:p.K324N,ENSG00000151376:ENST00000524826:exon9:c.G972C:p.K324N,ENSG00000151376:ENST00000543262:exon9:c.G972C:p.K324N Score=618;Name=lod=435 NA 11q14.2 NA NA NA NA rs1042780 0.27 0.27 0.275 0.298323 0.327 0.2728 0.3516 0.2201 0.363 0.31 0.23 0.34 0.22 0.3157 0.36 . . 0.008 B 0.028 B 0.020 N 0.000 P 0.93 L 0.99 T -0.949 T 0.000 T 0.091 2.343 13.79 2.51 0.814 2.043 8.001 2.343035 2.343035 0.24 0.335776 0.233651 ID=COSM147300;OCCURENCE=1(stomach) 0.406 NA 9.3548574 717 12 6840209 6840209 G A UTR3 COPS7A NM_001164094:c.*4G>A,NM_016319:c.*4G>A,NM_001164095:c.*4G>A,NM_001164093:c.*4G>A NA NA exonic ENSG00000111652 NA nonsynonymous SNV ENSG00000111652:ENST00000538410:exon7:c.G680A:p.G227E Score=523;Name=lod=178 NA 12p13.31 NA Name=EBF NA NA rs3168600 0.64 0.64 0.636 0.668331 0.661 0.749 0.5922 0.5446 0.8139 0.65 0.75 0.62 0.52 0.6689 0.75 1 T 0.131 B 0.04 B . . 0.000 P . . . . -1.003 T 0.000 T 0.298 1.783 11.92 4.82 2.497 4.150 16.270 1.783055 1.783055 NA 0.649186 0.55833 NA 0.529 NA 9.3542474 717 9 96209943 96209943 T C exonic FAM120AOS NA nonsynonymous SNV FAM120AOS:NM_198841:exon3:c.A721G:p.K241E exonic ENSG00000188938 NA nonsynonymous SNV ENSG00000188938:ENST00000375412:exon3:c.A721G:p.K241E,ENSG00000188938:ENST00000423591:exon3:c.A175G:p.K59E,ENSG00000188938:ENST00000428378:exon3:c.A172G:p.K58E NA NA 9q22.31 NA Name=GATA-1 NA NA rs10821128 0.31 0.31 0.293 0.227236 0.3479 0.4117 0.3069 0.0363 0.1145 0.36 0.45 0.36 0.05 0.297 0.45 0 D 0.0 B 0.0 B . . 1.000 P 0 N 0.63 T -0.939 T 0.000 T 0.043 -0.314 2.509 -1.41 -0.371 -1.584 5.358 -0.313505 NA 0.2 0.336977 0.091466 NA 0.21 NA 9.3514564 717 7 29070320 29070320 C T exonic CPVL NA nonsynonymous SNV CPVL:NM_019029:exon12:c.G1193A:p.R398H,CPVL:NM_031311:exon12:c.G1193A:p.R398H exonic ENSG00000106066 NA nonsynonymous SNV ENSG00000106066:ENST00000455893:exon2:c.G188A:p.R63H,ENSG00000106066:ENST00000265394:exon12:c.G1193A:p.R398H,ENSG00000106066:ENST00000396276:exon12:c.G1193A:p.R398H,ENSG00000106066:ENST00000409850:exon16:c.G1193A:p.R398H Score=433;Name=lod=77 NA 7p14.3 NA NA NA NA rs1052200 0.19 0.19 0.17 0.205471 0.1521 0.2649 0.281 0.1604 0.2065 0.16 0.26 0.22 0.14 0.1879 0.26 0.54 T 0.512 P 0.133 B 0.000 N 0.001 P 1.76 L 1.51 T -0.972 T 0.000 T 0.285 1.198 9.868 1.97 0.364 1.058 9.388 1.19828 NA 0.15 0.142674 0.157739 NA 0.159 NA 9.3506594 717 10 27687965 27687965 A G exonic PTCHD3 NA nonsynonymous SNV PTCHD3:NM_001034842:exon4:c.T1562C:p.M521T exonic ENSG00000182077 NA nonsynonymous SNV ENSG00000182077:ENST00000438700:exon4:c.T1562C:p.M521T Score=463;Name=lod=102 NA 10p12.1 NA NA NA NA rs2505327 0.53 0.53 0.499 0.54992 0.6829 0.37 0.5202 0.5257 0.6524 0.68 0.31 0.56 0.54 0.6187 0.68 0.86 T 0.0 B 0.001 B 0.005 N 0.986 P -2.255 N -1.95 D -0.935 T 0.000 T 0.048 -1.257 0.049 4.08 0.934 3.946 11.730 -1.256648 NA NA 0.681554 0.534725 NA 0.543 NA 9.3501794 717 13 41515286 41515286 T A exonic ELF1 NA nonsynonymous SNV ELF1:NM_001145353:exon7:c.A955T:p.T319S,ELF1:NM_172373:exon8:c.A1027T:p.T343S exonic ENSG00000120690 NA nonsynonymous SNV ENSG00000120690:ENST00000442101:exon7:c.A955T:p.T319S,ENSG00000120690:ENST00000239882:exon8:c.A1027T:p.T343S Score=490;Name=lod=131 NA 13q14.11 NA NA Name=13 NA rs1056820 0.44 0.44 0.394 0.413538 0.7097 0.1538 0.6657 0.152 0.5511 0.73 0.16 0.63 0.17 0.5957 0.73 0.84 T 0.008 B 0.016 B 0.187 N 0.161 P 1.1 L 0.61 T -0.951 T 0.000 T 0.022 1.382 10.55 4.3 1.026 0.626 5.668 1.382206 1.382206 0.44 0.678372 0.220608 ID=COSM1366878;OCCURENCE=1(large_intestine) 0.478 NA 9.3495614 717 11 68030173 68030173 C A exonic C11orf24 NA nonsynonymous SNV C11orf24:NM_022338:exon4:c.G290T:p.G97V exonic ENSG00000171067 NA nonsynonymous SNV ENSG00000171067:ENST00000304271:exon4:c.G290T:p.G97V NA NA 11q13.2 NA Name=ZNF263 NA NA rs3802746 0.34 0.34 0.305 0.383387 0.3062 0.4752 0.513 0.1309 0.6176 0.31 0.46 0.49 0.11 0.3728 0.49 0.33 T 0.995 D 0.919 D . . 1.000 P 1.65 L 0.54 T -0.923 T 0.000 T 0.08 1.807 12 1.45 0.746 0.759 6.607 1.806515 1.806515 0.02 0.306591 0.156818 NA 0.283 NA 9.3477424 717 19 53117017 53117017 T G exonic ZNF83 NA synonymous SNV ZNF83:NM_001105554:exon3:c.A801C:p.G267G,ZNF83:NM_001277951:exon3:c.A801C:p.G267G,ZNF83:NM_018300:exon3:c.A801C:p.G267G,ZNF83:NM_001105552:exon4:c.A801C:p.G267G,ZNF83:NM_001242538:exon4:c.A801C:p.G267G,ZNF83:NM_001277946:exon4:c.A801C:p.G267G,ZNF83:NM_001105550:exon5:c.A801C:p.G267G,ZNF83:NM_001105551:exon5:c.A801C:p.G267G,ZNF83:NM_001277948:exon5:c.A801C:p.G267G,ZNF83:NM_001277949:exon5:c.A801C:p.G267G,ZNF83:NM_001277952:exon5:c.A801C:p.G267G,ZNF83:NM_001105549:exon6:c.A801C:p.G267G,ZNF83:NM_001105553:exon6:c.A801C:p.G267G,ZNF83:NM_001242531:exon6:c.A801C:p.G267G,ZNF83:NM_001277945:exon6:c.A801C:p.G267G,ZNF83:NM_001277947:exon6:c.A801C:p.G267G exonic ENSG00000167766 NA synonymous SNV ENSG00000167766:ENST00000391789:exon1:c.A801C:p.G267G,ENSG00000167766:ENST00000541777:exon2:c.A801C:p.G267G,ENSG00000167766:ENST00000597597:exon2:c.A801C:p.G267G,ENSG00000167766:ENST00000301096:exon3:c.A801C:p.G267G,ENSG00000167766:ENST00000545872:exon3:c.A801C:p.G267G,ENSG00000167766:ENST00000536937:exon5:c.A801C:p.G267G,ENSG00000167766:ENST00000544146:exon6:c.A801C:p.G267G Score=309;Name=lod=24 NA 19q13.41 NA Name=SETDB1,ZNF274 NA NA rs7248435 NA NA 0.19 0.273163 0.2137 0.497 0.4323 0.1649 0.137 NA NA NA NA NA 0.11 . . . . . . . . 0.000 P . . . . . . . . . -1.293 0.039 0.536 0.214 -3.515 4.165 -1.293052 NA NA 0.105465 0.087154 NA 0.022 NA 9.3475016 717 2 24524958 24524958 C T exonic ITSN2 NA nonsynonymous SNV ITSN2:NM_006277:exon10:c.G871A:p.V291I,ITSN2:NM_019595:exon10:c.G871A:p.V291I,ITSN2:NM_147152:exon10:c.G871A:p.V291I exonic ENSG00000198399 NA nonsynonymous SNV ENSG00000198399:ENST00000355123:exon10:c.G871A:p.V291I,ENSG00000198399:ENST00000361999:exon10:c.G871A:p.V291I,ENSG00000198399:ENST00000406921:exon10:c.G871A:p.V291I,ENSG00000198399:ENST00000412011:exon11:c.G946A:p.V316I Score=503;Name=lod=147 NA 2p23.3 NA NA NA NA rs7603997 0.3 0.3 0.323 0.292133 0.3509 0.1915 0.2075 0.388 0.2658 0.35 0.19 0.23 0.41 0.3046 0.42 1 T 0.948 P 0.596 P 0.002 N 1.000 P -0.205 N 1.71 T -1.057 T 0.000 T 0.091 -0.179 3.13 2.11 0.338 0.343 9.130 -0.178539 NA 1 0.330349 0.422833 NA 0.406 NA 9.3474844 717 19 58420162 58420162 T C exonic ZNF417 NA nonsynonymous SNV ZNF417:NM_152475:exon3:c.A1484G:p.N495S exonic ENSG00000173480 NA nonsynonymous SNV ENSG00000173480:ENST00000312026:exon3:c.A1484G:p.N495S,ENSG00000173480:ENST00000595559:exon3:c.A1481G:p.N494S,ENSG00000173480:ENST00000536263:exon4:c.A887G:p.N296S NA NA 19q13.43 NA NA NA NA rs10416584 0.28 0.28 0.195 0.314696 0.3698 0.2996 0.2882 0.2943 0.32 0.32 0.25 0.3 0.22 0.3255 0.39 1 T 0.0 B 0.001 B . . 1.000 P 0.24 N 3.21 T -0.945 T 0.000 T 0.01 -1.121 0.125 -4.76 -3.048 -8.711 1.071 -1.120845 NA 1 0.2906 0.215842 NA 0.341 NA 9.3474334 717 11 124189306 124189306 G A exonic OR8D2 NA nonsynonymous SNV OR8D2:NM_001002918:exon1:c.C788T:p.P263L exonic ENSG00000197263 NA nonsynonymous SNV ENSG00000197263:ENST00000357438:exon1:c.C788T:p.P263L NA NA 11q24.2 NA NA NA NA rs2466620 0.24 0.24 0.239 0.277556 0.1292 0.1895 0.2003 0.4531 0.3384 0.13 0.22 0.2 0.46 0.2086 0.46 0.02 D 0.698 P 0.419 B 0.038 N 1.000 P 0.8 N 8.64 T -1.267 T 0.000 T 0.088 2.407 14.01 1.41 0.435 1.552 8.25 2.407143 2.407143 0.04 0.148639 0.423217 NA 0.348 NA 9.3468944 717 17 38122686 38122686 G A exonic GSDMA NA nonsynonymous SNV GSDMA:NM_178171:exon3:c.G388A:p.E130K exonic ENSG00000167914 NA nonsynonymous SNV ENSG00000167914:ENST00000301659:exon3:c.G388A:p.E130K,ENSG00000167914:ENST00000577447:exon3:c.G388A:p.E130K Score=289;Name=lod=20 NA 17q21.1 NA NA NA NA rs7212944 0.35 0.35 0.361 0.31849 0.331 0.38 0.2795 0.3389 0.2423 0.33 0.4 0.28 0.37 0.3264 0.42 0.76 T 0.037 B 0.062 B 0.958 N 0.999 P 0.045 N 2.03 T -0.914 T 0.000 T 0.175 1.149 9.682 2.99 0.692 2.671 7.407 1.149475 NA NA 0.329467 0.33729 NA 0.406 NA 9.3464664 717 1 27210721 27210721 T C exonic GPN2 NA nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G exonic ENSG00000142751 NA nonsynonymous SNV ENSG00000142751:ENST00000374133:exon3:c.A253G:p.R85G,ENSG00000142751:ENST00000374135:exon4:c.A790G:p.R264G Score=594;Name=lod=346 NA 1p36.11 NA NA NA NA rs3170660 0.84 0.84 0.842 0.873203 0.6292 0.997 0.8256 0.9781 0.8885 0.63 1 0.81 0.98 0.732 1 1 T 0.0 B 0.0 B 0.000 N 0.917 P 0 N 2.37 T -0.920 T 0.000 T 0.142 1.021 9.172 5.48 1.329 5.788 14.182 1.021476 NA 1 0.626512 0.916931 NA 0.848 NA 9.3456214 718 10 112266823 112266823 C T exonic DUSP5 NA nonsynonymous SNV DUSP5:NM_004419:exon3:c.C659T:p.A220V exonic ENSG00000138166 NA nonsynonymous SNV ENSG00000138166:ENST00000369583:exon3:c.C659T:p.A220V Score=393;Name=lod=53 NA 10q25.2 NA Name=Pol2-4H8 NA NA rs1889565 0.82 0.82 0.964 0.973243 1 1 0.9928 0.9024 1 0.84 0.88 0.86 0.68 0.991 1 0 D 0.017 B 0.015 B 0.001 D 1.000 P 0.715 N 0.14 T -1.024 T 0.000 T 0.053 2.841 15.46 3.8 0.762 0.910 5.665 2.840994 2.840994 0.02 0.999651 0.903768 NA NA NA 9.3426824 718 18 48333203 48333203 C G exonic MRO NA nonsynonymous SNV MRO:NM_001127174:exon3:c.G117C:p.R39S,MRO:NM_001127175:exon3:c.G159C:p.R53S,MRO:NM_001127176:exon3:c.G159C:p.R53S,MRO:NM_031939:exon4:c.G117C:p.R39S exonic ENSG00000134042 NA nonsynonymous SNV ENSG00000134042:ENST00000431965:exon3:c.G159C:p.R53S,ENSG00000134042:ENST00000436348:exon3:c.G159C:p.R53S,ENSG00000134042:ENST00000588444:exon3:c.G117C:p.R39S,ENSG00000134042:ENST00000592966:exon3:c.G117C:p.R39S,ENSG00000134042:ENST00000256425:exon4:c.G117C:p.R39S,ENSG00000134042:ENST00000398439:exon4:c.G117C:p.R39S,ENSG00000134042:ENST00000585524:exon4:c.G262C:p.V88L,ENSG00000134042:ENST00000428869:exon5:c.G117C:p.R39S NA NA 18q21.2 Score=760;Name=V$STAT5A_02 NA NA NA rs4940019 0.45 0.45 0.404 0.463059 0.496 0.4673 0.6816 0.1929 0.635 0.49 0.5 0.64 0.19 0.5139 0.64 0.72 T 0.519 P 0.251 B 0.002 N 1.000 P 2.2 M 2.38 T -0.911 T 0.000 T 0.109 0.564 7.049 2.63 0.271 0.590 5.164 0.564038 NA 0.06 0.482093 0.241716 NA 0.471 NA 9.3413404 718 10 70892791 70892791 C T exonic VPS26A NA synonymous SNV VPS26A:NM_001035260:exon2:c.C141T:p.S47S,VPS26A:NM_004896:exon2:c.C141T:p.S47S exonic ENSG00000122958 NA nonsynonymous SNV ENSG00000122958:ENST00000546041:exon2:c.C14T:p.P5L Score=510;Name=lod=158 NA 10q22.1 NA NA NA NA rs5030932 0.18 0.18 0.163 0.167532 0.2545 0.0367 0.1297 0.2723 0.0982 0.25 0.02 0.16 0.26 0.1921 0.26 0.68 T 0.0 B 0.0 B . . 0.000 P . . . . -0.975 T 0.000 T . 0.077 4.419 -2.87 -0.793 -1.102 0.987 0.077459 NA NA 0.212674 0.249206 ID=COSM1241893;OCCURENCE=1(oesophagus) 0.275 NA 9.340726 718 22 22868493 22868493 G T exonic ZNF280A NA nonsynonymous SNV ZNF280A:NM_080740:exon2:c.C1462A:p.R488S exonic ENSG00000169548 NA nonsynonymous SNV ENSG00000169548:ENST00000302097:exon2:c.C1462A:p.R488S Score=349;Name=lod=35 NA 22q11.22 NA NA NA NA rs361666 0.53 0.53 0.479 0.471645 0.7018 0.4107 0.732 0.2375 0.4294 0.7 0.43 0.7 0.26 0.6099 0.7 0.15 T 0.024 B 0.008 B . . 0.640 P 1.1 L 5.29 T -1.098 T 0.000 T 0.105 1.491 10.94 3.76 2.372 4.885 13.875 1.491486 1.491486 0.03 0.68093 0.307989 NA 0.399 NA 9.3407034 718 11 56344993 56344993 C A exonic OR5M10 NA nonsynonymous SNV OR5M10:NM_001004741:exon1:c.G205T:p.V69L exonic ENSG00000254834 NA nonsynonymous SNV ENSG00000254834:ENST00000526812:exon1:c.G205T:p.V69L Score=284;Name=lod=19 NA 11q12.1 NA NA NA NA rs10792043 0.64 0.64 0.573 0.653754 0.6501 0.874 0.719 0.3517 0.7924 0.64 0.87 0.74 0.28 0.6779 0.87 0.13 T 0.09 B 0.063 B . . 0.998 P 0.77 N 5.64 T -0.958 T 0.000 T 0.04 2.043 12.79 4.04 2.238 -1.748 7.392 2.042699 2.042699 NA 0.665419 0.412731 NA 0.572 NA 9.3399144 718 17 78184393 78184393 C T exonic SGSH NA nonsynonymous SNV SGSH:NM_000199:exon8:c.G1367A:p.R456H exonic ENSG00000181523 NA nonsynonymous SNV ENSG00000181523:ENST00000534910:exon7:c.G758A:p.R253H,ENSG00000181523:ENST00000326317:exon8:c.G1367A:p.R456H NA NA 17q25.3 NA NA NA NA rs7503034 0.33 0.33 0.268 0.345847 0.3032 0.3998 0.4769 0.2126 0.4213 0.31 0.37 0.44 0.21 0.3592 0.44 0.12 T 0.0 B 0.0 B 0.198 N 0.001 P 0.345 N -1.1 T -1.062 T 0.000 T 0.032 0.32 5.737 -6.91 -1.268 -0.308 10.126 0.320438 NA 0.08 0.331395 0.220835 NA 0.348 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078352.1;CLNDSDB=.;CLNDSDBID=. 9.3395384 718 22 22869123 22869123 T C exonic ZNF280A NA nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A832G:p.N278D exonic ENSG00000169548 NA nonsynonymous SNV ENSG00000169548:ENST00000302097:exon2:c.A832G:p.N278D Score=376;Name=lod=45 NA 22q11.22 NA NA NA NA rs362003 0.53 0.53 0.486 0.473642 0.7028 0.4137 0.7334 0.2398 0.4315 0.7 0.43 0.7 0.26 0.6102 0.7 1 T 0.0 B 0.0 B . . 1.000 P -2.56 N 5.64 T -1.038 T 0.000 T 0.004 -1.412 0.022 2.54 1.063 3.227 7.296 -1.41217 NA 1 0.680814 0.307989 NA 0.406 NA 9.3395194 718 3 10353626 10353626 C T intronic SEC13 NA NA NA intronic ENSG00000157020 NA NA NA NA NA 3p25.3 NA Name=Pol2 NA NA rs35671 0.19 0.19 0.207 0.196286 0.2346 0.0258 0.2219 0.2632 0.2239 0.23 0.02 0.22 0.32 0.1998 0.32 0.01 D 0.0 B 0.0 B . . 1.000 P . . . . -1.048 T 0.000 T . -0.992 0.273 -6.27 -4.679 -4.721 2.607 -0.991745 NA 0.18 0.227093 0.247163 NA 0.362 NA 9.338507 718 11 67352689 67352689 A G exonic GSTP1 NA nonsynonymous SNV GSTP1:NM_000852:exon5:c.A313G:p.I105V exonic ENSG00000084207 NA nonsynonymous SNV ENSG00000084207:ENST00000398603:exon5:c.A313G:p.I105V,ENSG00000084207:ENST00000398606:exon5:c.A313G:p.I105V NA NA 11q13.2 Score=697;Name=V$PPARG_02 Name=CTCF_(SC-5916),USF-1 NA NA rs1695 0.32 0.32 0.295 0.352636 0.331 0.1786 0.4755 0.4803 0.2945 0.32 0.17 0.43 0.44 0.3335 0.44 1 T 0.0 B 0.0 B 0.320 N 0.999 P -0.67 N 3.96 T -0.938 T 0.000 T 0.018 -2.264 0.004 -1.16 -0.473 -1.510 6.983 -2.264068 NA 1 0.331667 0.419626 NA 0.362 NA 9.3371664 719 5 35861068 35861068 T C exonic IL7R NA nonsynonymous SNV IL7R:NM_002185:exon2:c.T197C:p.I66T exonic ENSG00000168685 NA nonsynonymous SNV ENSG00000168685:ENST00000303115:exon2:c.T197C:p.I66T,ENSG00000168685:ENST00000343305:exon2:c.T197C:p.I66T,ENSG00000168685:ENST00000506850:exon2:c.T197C:p.I66T,ENSG00000168685:ENST00000511982:exon2:c.T197C:p.I66T,ENSG00000168685:ENST00000514217:exon2:c.T197C:p.I66T Score=431;Name=lod=75 NA 5p13.2 NA NA Name=44 NA rs1494558 0.61 0.61 0.586 0.59984 0.6978 0.4256 0.5418 0.7625 0.5 0.7 0.4 0.57 0.75 0.6279 0.75 . . 0.0 B 0.0 B 0.505 N 1.000 P . . -0.76 T -0.953 T 0.000 T 0.028 -1.522 0.016 2.16 0.111 0.337 3.678 -1.521583 NA 1 0.673605 0.754199 ID=COSM149813;OCCURENCE=1(stomach) 0.616 CLINSIG=pathogenic|untested;CLNDBN=Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified;CLNREVSTAT=single|not;CLNACC=RCV000015964.24|RCV000121212.1;CLNDSDB=MedGen:OMIM|.;CLNDSDBID=C1837028:608971|. 9.3340284 719 7 100549697 100549697 A G intergenic ACHE,MUC12 dist=56156;dist=63207 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.A278G:p.N93S NA NA 7q22.1 NA Name=CTCF NA NA rs77036391 NA NA NA 0.00199681 NA 0.0069 0.0043 NA NA NA NA NA NA 0.4999 0.48 0.9 T . . . . . . . . -0.55 N . . -1.010 T 0.025 T 0.061 -1.52 0.016 -3.51 -1.667 -1.456 4.422 -1.519788 NA 1 NA NA NA 0.478 NA 9.3334334 719 17 21215557 21215557 G A exonic MAP2K3 NA nonsynonymous SNV MAP2K3:NM_002756:exon10:c.G791A:p.R264H,MAP2K3:NM_145109:exon10:c.G878A:p.R293H exonic ENSG00000034152 NA nonsynonymous SNV ENSG00000034152:ENST00000527123:exon1:c.G104A:p.R35H,ENSG00000034152:ENST00000342679:exon10:c.G878A:p.R293H,ENSG00000034152:ENST00000361818:exon10:c.G791A:p.R264H,ENSG00000034152:ENST00000316920:exon11:c.G791A:p.R264H NA NA 17p11.2 NA NA Name=4 NA rs35206134 0.5 0.5 0.45 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 0.09 T 0.991 D 0.836 P 0.064 N 0.991 N 0.42 N -0.18 T -0.952 T 0.000 T 0.234 3.412 17.53 0.552 -0.076 0.507 5.924 3.411528 3.411528 0.09 NA NA NA 0.493 NA 9.3334334 719 6 26234450 26234450 T G UTR3 HIST1H1D NM_005320:c.*46A>C NA NA UTR3 ENSG00000124575 ENST00000244534:c.*46A>C NA NA Score=536;Name=lod=202 NA 6p22.2 NA Name=HEY1,NFKB,Oct-2,Pol2,Sin3Ak-20,TAF7_(SQ-8),Pol2-4H8,JunD,ETS1,POU2F2 Name=129 Score=262;Name=2017125_0_+_262 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.755318 2.755318 NA NA NA NA NA NA 9.3333334 719 8 25365148 25365148 C T exonic CDCA2 NA nonsynonymous SNV CDCA2:NM_152562:exon15:c.C2966T:p.T989I exonic ENSG00000184661 NA nonsynonymous SNV ENSG00000184661:ENST00000380665:exon14:c.C2921T:p.T974I,ENSG00000184661:ENST00000330560:exon15:c.C2966T:p.T989I NA NA 8p21.2 NA NA Name=24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29 T 0.178 B 0.165 B 0.159 N 1.000 N 0.805 L 1.44 T -1.036 T 0.054 T 0.093 2.196 13.3 0.542 0.073 -0.220 1.929 2.195731 2.195731 0.06 NA NA NA NA NA 9.3333334 719 17 21318952 21318952 A G exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.A298G:p.I100V,KCNJ12:NM_021012:exon3:c.A298G:p.I100V exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.A298G:p.I100V,ENSG00000184185:ENST00000583088:exon3:c.A298G:p.I100V NA NA 17p11.2 Score=762;Name=V$TCF11MAFG_01 NA NA NA rs8076599 0.5 0.5 NA 0.4998 0.5 0.5 0.5 0.4992 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.48 T 0.0 B 0.001 B 0.069 N 1.000 N -0.67 N -3.76 D -0.935 T 0.000 T 0.131 -0.84 0.574 -3.72 -0.937 -0.470 4.056 -0.839995 NA 0.54 NA NA NA 0.319 NA 9.3333334 719 19 36342551 36342551 C G exonic NPHS1 NA nonsynonymous SNV NPHS1:NM_004646:exon2:c.G82C:p.A28P exonic ENSG00000161270 NA nonsynonymous SNV ENSG00000161270:ENST00000353632:exon2:c.G82C:p.A28P,ENSG00000161270:ENST00000378910:exon2:c.G82C:p.A28P NA NA 19q13.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001963 NA 0.04 D 0.442 B 0.135 B 0.002 N 1.000 N 0.46 N -0.71 T -0.891 T 0.178 T 0.423 3.67 18.65 1.41 0.574 . 7.226 3.669784 3.669784 0.03 NA NA NA NA NA 9.3333138 719 9 135140221 135140221 G A exonic SETX NA nonsynonymous SNV SETX:NM_015046:exon26:c.C7439T:p.A2480V exonic ENSG00000107290 NA nonsynonymous SNV ENSG00000107290:ENST00000436441:exon17:c.C2252T:p.A751V,ENSG00000107290:ENST00000393220:exon25:c.C7340T:p.A2447V,ENSG00000107290:ENST00000224140:exon26:c.C7439T:p.A2480V,ENSG00000107290:ENST00000372169:exon27:c.C7526T:p.A2509V NA NA 9q34.13 NA NA NA NA rs376524608 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004118 0.0001 0.25 T 0.041 B 0.011 B 0.065 N 1.000 N 1.67 L -1.73 D -0.448 T 0.554 D 0.051 2.064 12.86 0.049 0.154 0.645 7.848 2.064254 2.064254 0.08 0.000116 0 NA NA NA 9.3331762 719 14 51226983 51226983 G A exonic NIN NA nonsynonymous SNV NIN:NM_016350:exon17:c.C1991T:p.T664I,NIN:NM_020921:exon17:c.C1991T:p.T664I,NIN:NM_182944:exon17:c.C1991T:p.T664I,NIN:NM_182946:exon17:c.C1991T:p.T664I exonic ENSG00000100503 NA nonsynonymous SNV ENSG00000100503:ENST00000530997:exon15:c.C1991T:p.T664I,ENSG00000100503:ENST00000382043:exon16:c.C1991T:p.T664I,ENSG00000100503:ENST00000245441:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000324330:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000382041:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000389868:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000453196:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000476352:exon17:c.C1991T:p.T664I NA NA 14q22.1 NA Name=YY1 Name=3 NA rs147946706 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0001 0.32 T 0.002 B 0.009 B 0.980 N 1.000 N 0.4 N 3.51 T -0.949 T 0.021 T 0.2 1.095 9.467 1.72 0.284 0.443 6.837 1.094578 NA 0.16 0.000116 0 NA NA NA 9.3329174 719 9 35869498 35869498 C T exonic OR13J1 NA nonsynonymous SNV OR13J1:NM_001004487:exon1:c.G901A:p.A301T exonic ENSG00000168828 NA nonsynonymous SNV ENSG00000168828:ENST00000377981:exon1:c.G901A:p.A301T NA NA 9p13.3 NA NA NA NA rs146834712 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0005 0.02 D 0.01 B 0.002 B 0.254 N 1.000 N 1.04 L 1.19 T -1.018 T 0.071 T 0.158 0.457 6.481 2.66 0.417 -0.387 11.945 0.456986 NA 0.01 0.000465 0 NA NA NA 9.3326684 719 1 62910770 62910770 A G exonic USP1 NA nonsynonymous SNV USP1:NM_001017415:exon6:c.A919G:p.T307A,USP1:NM_001017416:exon6:c.A919G:p.T307A,USP1:NM_003368:exon6:c.A919G:p.T307A exonic ENSG00000162607 NA nonsynonymous SNV ENSG00000162607:ENST00000339950:exon6:c.A919G:p.T307A,ENSG00000162607:ENST00000371146:exon6:c.A919G:p.T307A NA NA 1p31.3 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.000008339 NA 0.74 T 0.0 B 0.003 B 0.026 N 1.000 N 1.245 L 2.29 T -0.985 T 0.019 T 0.043 1.112 9.536 -2.73 -0.331 0.344 0.537 1.112106 NA 0.32 NA NA NA NA NA 9.3323251 719 8 96259948 96259948 T C exonic C8orf37 NA nonsynonymous SNV C8orf37:NM_177965:exon6:c.A521G:p.K174R exonic ENSG00000156172 NA nonsynonymous SNV ENSG00000156172:ENST00000286688:exon6:c.A521G:p.K174R Score=363;Name=lod=40 NA 8q22.1 NA NA NA NA rs148114532 NA NA NA 0.000998403 NA NA NA NA 0.0051 NA NA NA NA 0.0007 0.0006 0.1 T 0.433 B 0.127 B 0.007 N 0.955 N 1.87 L -1.65 D -0.551 T 0.422 T 0.133 2.839 15.46 1.45 0.006 0.561 13.087 2.838787 2.838787 0.3 0.000581 0 NA NA NA 9.3320524 719 20 44511254 44511254 C T exonic ZSWIM1 NA nonsynonymous SNV ZSWIM1:NM_080603:exon2:c.C23T:p.P8L exonic ENSG00000168612 NA nonsynonymous SNV ENSG00000168612:ENST00000372520:exon2:c.C23T:p.P8L,ENSG00000168612:ENST00000372523:exon2:c.C23T:p.P8L NA NA 20q13.12 NA Name=NRSF NA NA rs35165640 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 0.02 D 0.011 B 0.001 B . . 1.000 N 0 N 1.84 T -1.014 T 0.028 T 0.087 0.073 4.395 0.014 -0.031 -0.016 3.879 0.072866 NA 0.21 0.000349 0 NA NA NA 9.3317844 719 19 55087468 55087468 G A exonic LILRA2 NA nonsynonymous SNV LILRA2:NM_001130917:exon6:c.G1147A:p.G383S,LILRA2:NM_006866:exon6:c.G1147A:p.G383S exonic ENSG00000239998 NA nonsynonymous SNV ENSG00000239998:ENST00000391737:exon5:c.G1111A:p.G371S,ENSG00000239998:ENST00000251376:exon6:c.G1147A:p.G383S,ENSG00000239998:ENST00000391738:exon6:c.G1147A:p.G383S,ENSG00000239998:ENST00000251377:exon7:c.G1147A:p.G383S NA NA 19q13.42 NA NA NA NA rs151154459 0.0005 0.0005 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA NA NA 0.0008 0.0013 . . 0.009 B 0.047 B 0.154 N 1.000 N -0.07 N 4.4 T -0.915 T 0.005 T 0.123 -1.503 0.017 -3.32 -0.506 -2.363 4.249 -1.502921 NA 1 0.000581 0.000227 NA NA NA 9.3309524 719 13 96239805 96239805 G A exonic DZIP1 NA nonsynonymous SNV DZIP1:NM_014934:exon19:c.C2149T:p.P717S,DZIP1:NM_198968:exon20:c.C2206T:p.P736S exonic ENSG00000134874 NA nonsynonymous SNV ENSG00000134874:ENST00000361156:exon17:c.C2149T:p.P717S,ENSG00000134874:ENST00000347108:exon18:c.C2206T:p.P736S,ENSG00000134874:ENST00000361396:exon19:c.C2149T:p.P717S,ENSG00000134874:ENST00000376829:exon20:c.C2206T:p.P736S Score=265;Name=lod=16 NA 13q32.1 NA NA NA NA rs11070136 0.28 0.28 0.261 0.26877 0.3618 0.1558 0.2248 0.3207 0.2505 0.36 0.14 0.28 0.33 0.3003 0.36 0.5 T 0.005 B 0.008 B 0.026 N 1.000 P 1.385 L 1.46 T -0.935 T 0.000 T 0.062 -1.61 0.013 2.63 1.244 0.739 4.96 -1.609554 NA 0.25 0.340349 0.300272 ID=COSM147707;OCCURENCE=1(stomach) 0.261 NA 9.3308844 719 10 70968613 70968613 C A exonic SUPV3L1 NA nonsynonymous SNV SUPV3L1:NM_003171:exon15:c.C2183A:p.A728E exonic ENSG00000156502 NA nonsynonymous SNV ENSG00000156502:ENST00000359655:exon15:c.C2183A:p.A728E NA NA 10q22.1 Score=764;Name=V$PAX5_01 NA NA NA rs200900544 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0007 0.0013 0.39 T 0.012 B 0.01 B 0.989 N 1.000 N 0.895 L 1.58 T -0.999 T 0.041 T 0.191 -1.952 0.007 -2.32 -0.391 -0.259 2.626 -1.951546 NA 0.96 0.000814 0.000227 NA NA NA 9.3308194 719 1 212911836 212911836 T C exonic NSL1 NA nonsynonymous SNV NSL1:NM_015471:exon6:c.A760G:p.M254V exonic ENSG00000117697 NA nonsynonymous SNV ENSG00000117697:ENST00000366975:exon4:c.A637G:p.M213V,ENSG00000117697:ENST00000366977:exon6:c.A760G:p.M254V NA NA 1q32.3 NA Name=NRSF Name=35 NA rs15702 0.61 0.61 0.624 0.607428 0.6859 0.5308 0.4438 0.6513 0.6626 0.68 0.52 0.51 0.67 0.6402 0.68 1 T 0.0 B 0.0 B 0.186 N 1.000 P -1.04 N 1.86 T -0.969 T 0.000 T 0.023 -2.58 0.003 -10.5 -2.672 -3.546 1.497 -2.579856 NA 1 0.676512 0.682478 NA 0.659 NA 9.3307214 719 4 144920596 144920596 G A exonic GYPB NA nonsynonymous SNV GYPB:NM_002100:exon3:c.C143T:p.T48M exonic ENSG00000250361 NA nonsynonymous SNV ENSG00000250361:ENST00000513128:exon2:c.C44T:p.T15M,ENSG00000250361:ENST00000283126:exon3:c.C143T:p.T48M,ENSG00000250361:ENST00000429670:exon3:c.C143T:p.T48M,ENSG00000250361:ENST00000502664:exon3:c.C143T:p.T48M NA NA 4q31.21 NA NA NA NA rs7683365 0.24 0.24 0.216 0.235224 0.339 0.0347 0.3444 0.1853 0.3252 0.32 0.04 0.36 0.26 0.3457 0.36 0.22 T 0.002 B 0.0 B 0.916 N 1.000 P . . 3.07 T -0.908 T 0.000 T 0.215 1.18 9.8 -3.31 -1.595 -5.841 1.086 1.180374 NA 0.11 0.318446 0.193083 NA 0.312 NA 9.3301874 719 1 150131687 150131687 C T exonic PLEKHO1 NA nonsynonymous SNV PLEKHO1:NM_016274:exon6:c.C1199T:p.P400L exonic ENSG00000023902 NA nonsynonymous SNV ENSG00000023902:ENST00000025469:exon5:c.C1097T:p.P366L,ENSG00000023902:ENST00000369126:exon5:c.C650T:p.P217L,ENSG00000023902:ENST00000369124:exon6:c.C1199T:p.P400L NA NA 1q21.2 Score=837;Name=V$GRE_C Name=Pol2-4H8,c-Fos NA NA rs150382228 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0011 0.0028 0.32 T 0.063 B 0.016 B 0.999 N 1.000 N 0 N 1.06 T -0.981 T 0.022 T 0.146 1.568 11.2 -0.792 0.016 0.552 13.372 1.567933 1.567933 0.12 0.001163 0 NA NA NA 9.3300704 719 10 126172791 126172791 G A exonic LHPP NA nonsynonymous SNV LHPP:NM_001167880:exon2:c.G209A:p.R70K,LHPP:NM_022126:exon2:c.G209A:p.R70K exonic ENSG00000107902 NA nonsynonymous SNV ENSG00000107902:ENST00000368839:exon2:c.G209A:p.R70K,ENSG00000107902:ENST00000368842:exon2:c.G209A:p.R70K,ENSG00000107902:ENST00000392757:exon2:c.G209A:p.R70K NA NA 10q26.13 NA NA NA NA rs148962333 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0009 0.0017 0.4 T 0.008 B 0.009 B 0.664 N 1.000 N 1.02 L 1.67 T -1.021 T 0.045 T 0.165 0.167 4.897 -7.11 -1.870 -0.129 8.011 0.166709 NA 0.38 0.001744 0.000227 NA NA NA 9.3296894 719 1 156641537 156641537 C T exonic NES NA nonsynonymous SNV NES:NM_006617:exon4:c.G2443A:p.V815I exonic ENSG00000132688 NA nonsynonymous SNV ENSG00000132688:ENST00000368223:exon4:c.G2443A:p.V815I NA NA 1q23.1 NA NA NA NA rs951781 0.21 0.21 0.194 0.204273 0.3439 0.12 0.2738 0.0363 0.3252 0.35 0.13 0.29 0.04 0.3053 0.35 0.18 T 0.026 B 0.001 B 0.393 N 1.000 P 1.175 L -1.96 D -0.860 T 0.216 T 0.007 1.624 11.39 -4.93 -0.441 -1.666 7.434 1.624057 1.624057 0.41 0.354651 0.091012 ID=COSM146641;OCCURENCE=1(stomach) 0.348 NA 9.3294824 719 19 51228634 51228634 G A exonic CLEC11A NA synonymous SNV CLEC11A:NM_002975:exon4:c.G882A:p.E294E exonic ENSG00000105472 NA nonsynonymous SNV ENSG00000105472:ENST00000599973:exon4:c.G931A:p.E311K Score=613;Name=lod=415 NA 19q13.33 Score=810;Name=V$HMX1_01 Name=E2F6,Pol2,GABP,E2F6_(H-50) Name=9 NA rs11084024 0.17 0.17 0.142 0.151558 0.2505 0.0506 0.1182 0.1853 0.1319 0.27 0.06 0.12 0.19 0.2029 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184185 NA 0 0.217427 0.181652 NA 0.188 NA 9.329173 719 21 32127470 32127470 T C exonic KRTAP21-1 NA nonsynonymous SNV KRTAP21-1:NM_181619:exon1:c.A227G:p.Y76C exonic ENSG00000187005 NA nonsynonymous SNV ENSG00000187005:ENST00000335093:exon1:c.A227G:p.Y76C Score=389;Name=lod=51 NA 21q22.11 NA NA NA NA rs148348278 NA NA NA 0.00199681 NA NA NA NA 0.0102 NA NA NA NA 0.003 0.0014 0 D 0.008 B 0.006 B . . 1.000 N . . . . -1.003 T 0.073 T 0.324 0.099 4.533 0.614 0.237 0.103 5.775 0.099027 NA 0 0.001395 0.000227 NA NA NA 9.3289384 719 16 84520339 84520339 T C exonic TLDC1 NA nonsynonymous SNV TLDC1:NM_020947:exon5:c.A856G:p.I286V exonic ENSG00000140950 NA nonsynonymous SNV ENSG00000140950:ENST00000343629:exon5:c.A856G:p.I286V,ENSG00000140950:ENST00000535580:exon6:c.A775G:p.I259V NA NA 16q24.1 NA NA NA NA rs141459520 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.0009 0.0013 0.03 D 0.071 B 0.107 B 0.011 N 1.000 N 1.44 L 0.96 T -0.983 T 0.095 T 0.227 -0.121 3.41 1.75 0.016 1.422 8.882 -0.120503 NA 0.17 0.001279 0.000455 NA NA NA 9.3281544 719 9 100983329 100983329 G A exonic TBC1D2 NA nonsynonymous SNV TBC1D2:NM_001267571:exon6:c.C1160T:p.A387V,TBC1D2:NM_018421:exon6:c.C1160T:p.A387V exonic ENSG00000095383 NA nonsynonymous SNV ENSG00000095383:ENST00000342112:exon5:c.C506T:p.A169V,ENSG00000095383:ENST00000375064:exon6:c.C1160T:p.A387V,ENSG00000095383:ENST00000375066:exon6:c.C1160T:p.A387V NA NA 9q22.33 NA NA NA NA rs61753563 0.02 0.02 0.021 0.0225639 NA NA 0.0014 0.0847 NA NA NA 0.0028 0.09 0.0053 0.09 0.18 T 0.006 B 0.001 B 0.165 N 1.000 P -0.29 N 3.1 T -0.998 T 0.001 T 0.022 0.401 6.179 -5.98 -0.925 -1.009 7.336 0.40121 NA 0.37 0.000349 0.051294 NA 0.014 NA 9.3276844 719 6 66115146 66115146 C T exonic EYS NA nonsynonymous SNV EYS:NM_198283:exon5:c.G977A:p.S326N,EYS:NM_001142800:exon6:c.G977A:p.S326N,EYS:NM_001142801:exon6:c.G977A:p.S326N exonic ENSG00000188107 NA nonsynonymous SNV ENSG00000188107:ENST00000370616:exon3:c.G977A:p.S326N,ENSG00000188107:ENST00000342421:exon4:c.G977A:p.S326N,ENSG00000188107:ENST00000370618:exon6:c.G977A:p.S326N,ENSG00000188107:ENST00000370621:exon6:c.G977A:p.S326N,ENSG00000188107:ENST00000393380:exon6:c.G977A:p.S326N,ENSG00000188107:ENST00000503581:exon6:c.G977A:p.S326N NA NA 6q12 NA NA NA NA rs112822256 0.0023 0.0023 0.003 0.00219649 0.003 NA NA 0.0053 0.001 0.0026 NA NA 0.01 0.0018 0.011 0.03 D 0.001 B 0.001 B . . 1.000 N 0.6 N -1.61 D -0.827 T 0.246 T 0.045 0.984 9.018 -1.66 -0.679 0.103 6.756 0.984254 NA 0.01 0.001279 0.006128 NA 0.007 NA 9.3272544 719 14 55509919 55509919 G A exonic SOCS4 NA nonsynonymous SNV SOCS4:NM_080867:exon2:c.G160A:p.G54S,SOCS4:NM_199421:exon3:c.G160A:p.G54S exonic ENSG00000180008 NA nonsynonymous SNV ENSG00000180008:ENST00000339298:exon2:c.G160A:p.G54S,ENSG00000180008:ENST00000395472:exon2:c.G160A:p.G54S,ENSG00000180008:ENST00000555846:exon3:c.G160A:p.G54S NA NA 14q22.3 NA NA NA NA rs146421724 0.0009 0.0009 NA 0.00179712 0.003 NA 0.0086 NA NA 0.0013 NA 0.0028 NA 0.0014 0.0028 0.15 T 0.0 B 0.0 B 0.310 N 1.000 N 0 N 1.48 T -1.024 T 0.035 T 0.029 -0.395 2.148 -4.77 -1.350 -0.433 6.006 -0.395268 NA 0.2 0.001744 0 NA NA NA 9.3271894 719 20 44238741 44238741 T G exonic WFDC9 NA nonsynonymous SNV WFDC9:NM_147198:exon3:c.A80C:p.N27T exonic ENSG00000180205 NA nonsynonymous SNV ENSG00000180205:ENST00000326000:exon3:c.A80C:p.N27T NA NA 20q13.12 NA NA NA NA rs2245898 0.39 0.39 0.383 0.393371 0.325 0.4276 0.3545 0.4175 0.4233 0.31 0.43 0.39 0.47 0.3539 0.47 0.65 T 0.0 B 0.0 B 0.009 N 1.000 P . . 1.52 T -0.969 T 0.000 T 0.012 -0.453 1.9 -6.08 -1.726 -1.986 4.197 -0.453305 NA 0.75 0.32814 0.394008 ID=COSM149186;OCCURENCE=1(stomach) 0.297 NA 9.3262934 719 19 10577843 10577843 C A exonic PDE4A NA nonsynonymous SNV PDE4A:NM_006202:exon10:c.C1490A:p.A497E,PDE4A:NM_001111307:exon15:c.C2207A:p.A736E,PDE4A:NM_001111308:exon15:c.C2129A:p.A710E,PDE4A:NM_001111309:exon15:c.C2024A:p.A675E,PDE4A:NM_001243121:exon17:c.C2141A:p.A714E exonic ENSG00000065989 NA nonsynonymous SNV ENSG00000065989:ENST00000344979:exon10:c.C1490A:p.A497E,ENSG00000065989:ENST00000293683:exon15:c.C2129A:p.A710E,ENSG00000065989:ENST00000352831:exon15:c.C2207A:p.A736E,ENSG00000065989:ENST00000440014:exon15:c.C2024A:p.A675E,ENSG00000065989:ENST00000380702:exon16:c.C2141A:p.A714E,ENSG00000065989:ENST00000592685:exon17:c.C2141A:p.A714E NA NA 19p13.2 NA NA NA NA rs1051738 0.18 0.18 0.186 0.188299 0.1521 0.1389 0.1369 0.3033 0.1575 0.16 0.11 0.17 0.29 0.1765 0.29 0.44 T 0.849 P 0.438 B . . 1.000 P 0 N -0.02 T -1.097 T 0.000 T 0.058 2.082 12.92 -4.39 -0.449 -1.502 1.544 2.081865 2.081865 0.03 0.178605 0.285747 ID=COSM148506;OCCURENCE=1(stomach) 0.152 NA 9.3261284 719 2 103335178 103335178 C T exonic MFSD9 NA nonsynonymous SNV MFSD9:NM_032718:exon6:c.G1126A:p.A376T exonic ENSG00000135953 NA nonsynonymous SNV ENSG00000135953:ENST00000258436:exon6:c.G1126A:p.A376T NA NA 2q12.1 NA NA NA NA rs34096572 0.02 0.02 0.018 0.0199681 0.001 NA 0.0058 0.0719 NA NA NA 0.01 0.07 0.0054 0.07 0.44 T 0.356 B 0.119 B 0.602 N 1.000 N 0.55 N 0.32 T -1.096 T 0.009 T 0.027 0.646 7.469 -5.16 -1.433 -0.437 7.441 0.646291 NA 0.47 0.000814 0.053109 NA 0.029 NA 9.3261194 720 12 32994073 32994073 G A exonic PKP2 NA nonsynonymous SNV PKP2:NM_001005242:exon6:c.C1445T:p.T482M,PKP2:NM_004572:exon7:c.C1577T:p.T526M exonic ENSG00000057294 NA nonsynonymous SNV ENSG00000057294:ENST00000340811:exon6:c.C1445T:p.T482M,ENSG00000057294:ENST00000070846:exon7:c.C1577T:p.T526M NA NA 12p11.21 NA NA NA NA rs146882581 0.0023 0.0023 0.002 0.00379393 0.005 NA 0.0029 0.0091 NA 0.0026 NA NA 0.01 0.0023 0.01 0.12 T 0.198 B 0.032 B 0.002 N 1.000 N 1.56 L -1.07 T -0.835 T 0.225 T 0.278 -0.137 3.327 2.01 0.068 0.502 8.816 -0.137495 NA 0.08 0.002326 0.006355 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038172.1;CLNDSDB=.;CLNDSDBID=. 9.3237074 720 9 136340625 136340625 C T exonic SLC2A6 NA nonsynonymous SNV SLC2A6:NM_001145099:exon5:c.G671A:p.R224Q,SLC2A6:NM_017585:exon5:c.G671A:p.R224Q exonic ENSG00000160326 NA nonsynonymous SNV ENSG00000160326:ENST00000371897:exon5:c.G671A:p.R224Q,ENSG00000160326:ENST00000371899:exon5:c.G671A:p.R224Q Score=426;Name=lod=72 NA 9q34.2 NA NA NA NA rs147854160 NA NA NA 0.000798722 0.003 NA 0.0014 NA NA NA NA NA NA 0.0026 0.0051 0.37 T 0.021 B 0.003 B 0.042 N 0.996 N -0.525 N -0.84 T -1.018 T 0.092 T 0.024 0.598 7.225 0.644 0.206 1.189 6.988 0.598187 NA 0.8 0.005117 0.00091 NA NA NA 9.3226164 720 2 220355529 220355529 A G exonic SPEG NA nonsynonymous SNV SPEG:NM_005876:exon38:c.A9236G:p.H3079R exonic ENSG00000072195 NA nonsynonymous SNV ENSG00000072195:ENST00000312358:exon38:c.A9236G:p.H3079R Score=558;Name=lod=247 NA 2q35 Score=874;Name=V$USF_01 NA NA NA rs12464085 0.35 0.35 0.327 0.400958 0.331 0.1736 0.3905 0.5696 0.4867 0.32 0.19 0.4 0.56 0.3552 0.56 1 T 0.0 B 0.0 B 0.099 N 0.000 P 0.14 N -0.07 T -0.944 T 0.000 T 0.053 0.871 8.533 -0.076 -0.187 1.359 11.281 0.871477 NA 1 0.325077 0.517032 NA 0.326 NA 9.3220564 720 11 77409568 77409568 T C exonic RSF1 NA synonymous SNV RSF1:NM_016578:exon7:c.A2679G:p.P893P exonic ENSG00000048649 NA synonymous SNV ENSG00000048649:ENST00000531026:exon1:c.A6G:p.P2P,ENSG00000048649:ENST00000480887:exon2:c.A1923G:p.P641P,ENSG00000048649:ENST00000526324:exon3:c.A2082G:p.P694P,ENSG00000048649:ENST00000360355:exon6:c.A2586G:p.P862P,ENSG00000048649:ENST00000308488:exon7:c.A2679G:p.P893P NA NA 11q14.1 NA NA NA NA rs4945203 0.19 0.19 0.179 0.196885 0.0984 0.1736 0.2161 0.3298 0.1288 0.1 0.19 0.19 0.35 0.1502 0.35 . . . . . . . . 0.000 P . . . . -0.987 T 0.000 T . 0.916 8.729 -8.3 -2.263 -1.814 2.551 0.916226 NA NA 0.096925 0.305227 NA 0.225 NA 9.3211416 720 2 238257013 238257013 G A exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon27:c.C5124T:p.F1708F,COL6A3:NM_057167:exon29:c.C6327T:p.F2109F,COL6A3:NM_004369:exon30:c.C6945T:p.F2315F exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon27:c.C5124T:p.F1708F,ENSG00000163359:ENST00000409809:exon28:c.C6327T:p.F2109F,ENSG00000163359:ENST00000346358:exon29:c.C6345T:p.F2115F,ENSG00000163359:ENST00000347401:exon29:c.C6342T:p.F2114F,ENSG00000163359:ENST00000353578:exon29:c.C6327T:p.F2109F,ENSG00000163359:ENST00000295550:exon30:c.C6945T:p.F2315F Score=383;Name=lod=48 NA 2q37.3 Score=993;Name=V$STAT3_02 Name=MafK_(SC-477),MafK_(ab50322) NA NA rs2646265 0.1 0.1 0.083 0.10643 0.1302 0.0516 0.1729 0.0817 0.1247 0.13 0.04 0.16 0.09 0.11 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972586 NA NA 0.10593 0.081707 NA 0.087 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080980.3;CLNDSDB=.;CLNDSDBID=. 9.3205366 720 19 57649900 57649900 C T exonic ZIM3 NA nonsynonymous SNV ZIM3:NM_052882:exon3:c.G82A:p.E28K exonic ENSG00000141946 NA nonsynonymous SNV ENSG00000141946:ENST00000269834:exon3:c.G82A:p.E28K NA NA 19q13.43 NA NA NA NA rs2370134 0.16 0.16 0.124 0.138978 0.161 0.247 0.2161 0.0144 0.1186 0.15 0.27 0.19 0.03 0.17 0.27 0.01 D 0.611 P 0.048 B . . 1.000 P 1.67 L 4.68 T -0.907 T 0.000 T 0.062 1.474 10.87 -1.33 0.277 -2.790 0.233 1.473521 1.473521 0.08 0.182442 0.04857 NA 0.058 NA 9.3198914 720 2 116548675 116548675 G A exonic DPP10 NA nonsynonymous SNV DPP10:NM_001004360:exon18:c.G1529A:p.S510N,DPP10:NM_001178034:exon18:c.G1562A:p.S521N,DPP10:NM_001178037:exon18:c.G1538A:p.S513N,DPP10:NM_020868:exon18:c.G1550A:p.S517N,DPP10:NM_001178036:exon19:c.G1400A:p.S467N exonic ENSG00000175497 NA nonsynonymous SNV ENSG00000175497:ENST00000310323:exon18:c.G1529A:p.S510N,ENSG00000175497:ENST00000393147:exon18:c.G1562A:p.S521N,ENSG00000175497:ENST00000410059:exon18:c.G1550A:p.S517N,ENSG00000175497:ENST00000409163:exon19:c.G1400A:p.S467N Score=484;Name=lod=124 NA 2q14.1 NA NA NA NA rs13421193 0.03 0.03 0.039 0.0391374 0.001 NA 0.0101 0.1422 NA NA NA 0.0028 0.13 0.0121 0.13 1 T 0.001 B 0.001 B 0.020 N 1.000 N -0.205 N 1.54 T -0.992 T 0.000 T 0.013 0.72 7.83 2.67 0.394 -0.263 7.229 0.719671 NA 0.48 0.000931 0.121026 NA 0.072 NA 9.3193024 720 1 152276149 152276149 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G11213A:p.R3738H exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G11213A:p.R3738H NA NA 1q21.3 NA NA NA NA rs77422831 0.26 0.26 0.202 0.286941 0.1421 0.5804 0.3919 0.0113 0.4315 0.15 0.58 0.32 0.02 0.2288 0.58 0.27 T 0.751 P 0.065 B . . 1.000 P -0.505 N 4.68 T -0.947 T 0.001 T 0.033 1.563 11.18 -2.2 -0.570 -2.253 4.171 1.563264 1.563264 0.3 0.144186 0.036995 NA 0.145 NA 9.3182474 720 14 90420961 90420961 G A exonic EFCAB11 NA nonsynonymous SNV EFCAB11:NM_145231:exon1:c.C44T:p.A15V exonic ENSG00000140025 NA nonsynonymous SNV ENSG00000140025:ENST00000316738:exon1:c.C44T:p.A15V,ENSG00000140025:ENST00000538485:exon1:c.C44T:p.A15V,ENSG00000140025:ENST00000556639:exon1:c.C44T:p.A15V NA NA 14q32.11 NA Name=GABP,TAF1,GATA-1,PU.1,Pol2,Pol2(phosphoS2),ELF1_(SC-631),BAF155,Sin3Ak-20,Pol2-4H8,HEY1,TBP NA NA rs35435801 0.03 0.03 0.032 0.0397364 0.002 NA 0.0159 0.1407 NA NA NA 0.02 0.11 0.0129 0.13 0.05 D 0.005 B 0.003 B 0.954 N 0.999 P 0.49 N 3.05 T -1.007 T 0.000 T 0.034 1.724 11.72 0.256 0.142 0.384 7.462 1.723768 1.723768 0.9 0.000465 0.128688 NA 0.014 NA 9.3179684 720 1 117122288 117122288 G C exonic IGSF3 NA nonsynonymous SNV IGSF3:NM_001007237:exon10:c.C3060G:p.D1020E,IGSF3:NM_001542:exon11:c.C3120G:p.D1040E exonic ENSG00000143061 NA nonsynonymous SNV ENSG00000143061:ENST00000318837:exon10:c.C3120G:p.D1040E,ENSG00000143061:ENST00000369486:exon10:c.C3060G:p.D1020E,ENSG00000143061:ENST00000369483:exon11:c.C3120G:p.D1040E NA NA 1p13.1 NA NA NA NA rs647711 0.28 0.28 0.15 0.261581 0.4324 0.1101 0.3141 0.1732 0.3241 0.43 0.13 0.31 0.19 0.2949 0.43 0.83 T 0.0 B 0.0 B 0.638 N 1.000 P 0 N 4.08 T -0.902 T 0.001 T 0.048 -2.465 0.003 -5.35 -2.572 -1.686 7.115 -2.465162 NA 1 0.288372 0.134362 ID=COSM1333058,COSM1333059;OCCURENCE=1(large_intestine) 0.058 NA 9.3176614 720 19 55143083 55143083 T C exonic LILRB1 NA nonsynonymous SNV LILRB1:NM_001081637:exon4:c.T203C:p.L68P,LILRB1:NM_001081638:exon4:c.T203C:p.L68P,LILRB1:NM_001081639:exon4:c.T203C:p.L68P,LILRB1:NM_006669:exon5:c.T203C:p.L68P exonic ENSG00000104972 NA nonsynonymous SNV ENSG00000104972:ENST00000396315:exon3:c.T203C:p.L68P,ENSG00000104972:ENST00000396317:exon3:c.T203C:p.L68P,ENSG00000104972:ENST00000396321:exon3:c.T203C:p.L68P,ENSG00000104972:ENST00000418536:exon3:c.T203C:p.L68P,ENSG00000104972:ENST00000421584:exon3:c.T203C:p.L68P,ENSG00000104972:ENST00000427581:exon3:c.T311C:p.L104P,ENSG00000104972:ENST00000448689:exon3:c.T203C:p.L68P,ENSG00000104972:ENST00000324602:exon4:c.T203C:p.L68P,ENSG00000104972:ENST00000396327:exon4:c.T203C:p.L68P,ENSG00000104972:ENST00000396332:exon4:c.T203C:p.L68P,ENSG00000104972:ENST00000434867:exon4:c.T203C:p.L68P,ENSG00000104972:ENST00000396331:exon5:c.T203C:p.L68P NA NA 19q13.42 NA NA NA NA rs1061679 0.46 0.46 0.442 0.468251 0.3032 0.5982 0.4899 0.618 0.2863 0.29 0.58 0.44 0.58 0.3925 0.58 0.86 T 0.0 B 0.001 B 0.005 N 1.000 P -0.83 N 5.84 T -0.974 T 0.000 T 0.087 -3.114 0.001 -3.16 -1.373 -3.288 0.354 -3.114359 NA 1 0.321047 0.581253 NA 0.543 NA 9.3165864 720 11 6524072 6524072 A C exonic DNHD1 NA nonsynonymous SNV DNHD1:NM_173589:exon3:c.A836C:p.Q279P,DNHD1:NM_144666:exon4:c.A836C:p.Q279P exonic ENSG00000179532 NA nonsynonymous SNV ENSG00000179532:ENST00000527990:exon2:c.A836C:p.Q279P,ENSG00000179532:ENST00000354685:exon3:c.A836C:p.Q279P,ENSG00000179532:ENST00000254579:exon4:c.A836C:p.Q279P NA NA 11p15.4 NA NA NA NA rs11605196 0.1 0.1 0.091 0.0996406 0.1789 0.0169 0.147 0.0408 0.1493 0.19 0.02 0.13 0.05 0.1485 0.19 0.3 T 0.838 P 0.367 B 0.150 N 1.000 P 1.245 L 2.65 T -1.034 T 0.000 T 0.425 1.627 11.4 4.52 0.971 0.115 8.234 1.627054 1.627054 0.02 0.19041 0.062926 NA 0.203 NA 9.3155234 721 19 55715309 55715309 C T exonic PTPRH NA nonsynonymous SNV PTPRH:NM_002842:exon5:c.G727A:p.V243I exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000376350:exon5:c.G727A:p.V243I Score=284;Name=lod=19 NA 19q13.42 NA NA NA NA rs45535035 0.13 0.13 0.126 0.124401 0.1978 0.0327 0.0994 0.1558 0.1186 0.21 0.02 0.12 0.13 0.1433 0.21 1 T 0.74 P 0.088 B 0.953 N 0.002 P 0.125 N 0.17 T -1.097 T 0.000 T 0.02 -1.345 0.029 2.49 0.582 -0.050 6.898 -1.344619 NA 0.54 0.177442 0.16296 NA 0.138 NA 9.3147914 721 12 57132236 57132236 C T exonic PRIM1 NA nonsynonymous SNV PRIM1:NM_000946:exon11:c.G1126A:p.V376I exonic ENSG00000198056 NA nonsynonymous SNV ENSG00000198056:ENST00000338193:exon11:c.G1126A:p.V376I Score=456;Name=lod=95 NA 12q13.3 NA NA NA NA rs143246089 0.0037 0.0037 0.004 0.00259585 0.004 NA 0.0101 0.0008 0.001 0.004 NA 0.01 0.002 0.0067 0.01 0.2 T 0.0 B 0.0 B 0.448 N 1.000 N -1.1 N 0.96 T -1.029 T 0.025 T 0.011 1.107 9.516 2.0 0.349 -0.217 6.071 1.106991 NA 0.53 0.008427 0.00134 NA NA NA 9.3142064 721 7 6370406 6370406 C T exonic FAM220A NA nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G380A:p.R127Q exonic ENSG00000178397 NA nonsynonymous SNV ENSG00000178397:ENST00000313324:exon2:c.G380A:p.R127Q NA NA 7p22.1 NA NA NA NA rs3750040 0.69 0.69 0.673 0.723043 0.4543 0.8839 0.6571 0.8669 0.6861 0.45 0.88 0.63 0.85 0.5882 0.88 0.6 T 0.994 D 0.662 P 0.557 U 1.000 P 0.69 N 3.1 T -1.039 T 0.000 T 0.101 0.819 8.298 4.23 1.144 0.772 8.367 0.819362 NA 0.61 0.477326 0.814798 NA 0.688 NA 9.3135074 721 14 21792811 21792811 G A exonic RPGRIP1 NA synonymous SNV RPGRIP1:NM_020366:exon14:c.G1797A:p.P599P exonic ENSG00000092200 NA nonsynonymous SNV ENSG00000092200:ENST00000307974:exon1:c.G23A:p.R8H,ENSG00000092200:ENST00000555489:exon2:c.G139A:p.V47I NA NA 14q11.2 Score=763;Name=V$MYOGNF1_01 NA NA NA rs9322965 0.16 0.16 0.174 0.184704 0.2336 0.0188 0.1427 0.2421 0.2577 0.24 0.01 0.15 0.23 0.2126 0.24 0.19 T 0.001 B 0.001 B . . 1.000 P . . -1.27 T -1.096 T 0.000 T . 0.9 8.657 3.17 0.534 -0.363 2.633 0.899673 NA 0.2 0.240772 0.211607 NA 0.181 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086242.1;CLNDSDB=.;CLNDSDBID=. 9.313028 721 9 116060124 116060124 T C exonic RNF183 NA nonsynonymous SNV RNF183:NM_145051:exon2:c.A341G:p.Q114R exonic ENSG00000165188 NA nonsynonymous SNV ENSG00000165188:ENST00000478815:exon1:c.A341G:p.Q114R,ENSG00000165188:ENST00000416588:exon2:c.A341G:p.Q114R,ENSG00000165188:ENST00000441031:exon2:c.A341G:p.Q114R,ENSG00000165188:ENST00000297894:exon4:c.A341G:p.Q114R Score=514;Name=lod=163 NA 9q32 Score=813;Name=V$TAXCREB_01 NA NA NA rs3750534 0.37 0.37 0.398 0.408546 0.3181 0.4246 0.2061 0.4486 0.5746 0.33 0.43 0.23 0.48 0.3648 0.49 0.57 T . . . . 0.192 N 1.000 P . . 2.35 T -0.938 T 0.000 T 0.016 -1.472 0.018 3.16 0.318 0.059 4.768 -1.471647 NA NA 0.337653 0.427337 NA 0.42 NA 9.3127804 721 11 125617606 125617606 G A exonic PATE1 NA nonsynonymous SNV PATE1:NM_138294:exon4:c.G136A:p.V46I exonic ENSG00000171053 NA nonsynonymous SNV ENSG00000171053:ENST00000437148:exon3:c.G100A:p.V34I,ENSG00000171053:ENST00000305738:exon4:c.G136A:p.V46I NA NA 11q24.2 NA NA NA NA rs537916 0.27 0.27 0.27 0.274161 0.334 0.2282 0.2925 0.2073 0.3374 0.34 0.24 0.28 0.2 0.3327 0.35 0.33 T 0.004 B 0.008 B 0.923 N 1.000 P 1.15 L 1.66 T -0.974 T 0.000 T 0.045 0.651 7.495 -6.17 -1.459 -1.626 13.537 0.651394 NA 0 0.35392 0.229441 NA 0.391 NA 9.3127134 721 19 9801668 9801668 T C exonic ZNF812 NA nonsynonymous SNV ZNF812:NM_001199814:exon6:c.A511G:p.R171G exonic ENSG00000224689 NA nonsynonymous SNV ENSG00000224689:ENST00000457674:exon5:c.A511G:p.R171G NA NA 19p13.2 NA NA NA NA rs113307466 0.05 0.05 0.055 0.0644968 0.001 0.0159 0.0216 0.2186 0.002 0.0013 0.01 0.02 0.2 0.0201 0.2 1 T 0.0 B 0.0 B . . 1.000 P -2.58 N 2.03 T -0.999 T 0.000 T 0.097 -2.257 0.004 -2.83 -1.714 0.296 9.803 -2.256732 NA 1 NA NA NA 0.072 NA 9.3122334 721 5 169031150 169031150 T C exonic SPDL1 NA nonsynonymous SNV SPDL1:NM_017785:exon12:c.T1757C:p.L586S exonic ENSG00000040275 NA nonsynonymous SNV ENSG00000040275:ENST00000265295:exon12:c.T1757C:p.L586S Score=325;Name=lod=28 NA 5q35.1 Score=843;Name=V$STAT5B_01 NA NA NA rs3777084 0.65 0.65 0.644 0.656749 0.672 0.7331 0.5965 0.5893 0.6963 0.69 0.72 0.6 0.57 0.6613 0.72 0.89 T 0.0 B 0.0 B 0.122 N 1.000 P -1.79 N 1.72 T -0.970 T 0.000 T 0.017 -1.57 0.015 4.05 0.402 1.392 5.756 -1.570291 NA 1 0.690116 0.591239 NA 0.587 NA 9.3099174 721 3 100364914 100364914 G A exonic GPR128 NA nonsynonymous SNV GPR128:NM_032787:exon9:c.G1072A:p.D358N exonic ENSG00000144820 NA nonsynonymous SNV ENSG00000144820:ENST00000475887:exon3:c.G187A:p.D63N,ENSG00000144820:ENST00000273352:exon9:c.G1072A:p.D358N NA NA 3q12.2 NA NA NA NA rs61742836 0.01 0.01 0.01 0.00419329 0.0159 NA 0.0043 0.0015 NA 0.01 NA 0.0028 0.01 0.0049 0.011 0.75 T 0.001 B 0.002 B 0.866 N 1.000 N 1.155 L 1.44 T -0.992 T 0.044 T 0.006 1.211 9.917 -2.94 -0.446 -1.582 7.078 1.211071 NA 0.29 0.007442 0.001135 NA 0.007 NA 9.3050914 722 22 38205989 38205989 T C exonic GCAT NA nonsynonymous SNV GCAT:NM_001171690:exon2:c.T230C:p.L77S exonic ENSG00000100116 NA nonsynonymous SNV ENSG00000100116:ENST00000323205:exon2:c.T230C:p.L77S,ENSG00000100116:ENST00000445195:exon2:c.T230C:p.L77S NA NA 22q13.1 NA Name=Pol2 NA NA rs2285178 0.28 0.28 0.26 0.275559 0.332 0.3135 0.3098 0.1014 0.3896 0.33 0.34 0.31 0.11 0.3866 0.34 0 D 0.037 B 0.009 B . . 1.000 P . . -1.86 D -1.068 T 0.000 T 0.075 0.329 5.786 0.006 -0.072 0.213 4.103 0.329321 NA 0 0.31077 0.140263 NA 0.239 NA 9.3039634 722 20 50407502 50407502 A C exonic SALL4 NA nonsynonymous SNV SALL4:NM_020436:exon2:c.T1520G:p.L507R exonic ENSG00000101115 NA nonsynonymous SNV ENSG00000101115:ENST00000217086:exon2:c.T1520G:p.L507R Score=251;Name=lod=14 NA 20q13.2 NA NA NA NA rs6126344 0.35 0.35 0.28 0.358826 0.335 0.5962 0.3386 0.1218 0.4734 0.32 0.57 0.36 0.13 0.3506 0.57 0.68 T 0.024 B 0.005 B 0.056 N 0.000 P 1.905 M 2.88 T -0.966 T 0.000 T 0.084 -0.033 3.845 1.9 0.343 2.155 8.640 -0.033053 NA 0.33 0.343837 0.149796 NA 0.304 NA 9.3038964 722 2 171260797 171260797 A G exonic MYO3B NA nonsynonymous SNV MYO3B:NM_001083615:exon20:c.A2318G:p.E773G,MYO3B:NM_138995:exon20:c.A2318G:p.E773G exonic ENSG00000071909 NA nonsynonymous SNV ENSG00000071909:ENST00000317935:exon20:c.A2318G:p.E773G,ENSG00000071909:ENST00000334231:exon20:c.A2345G:p.E782G,ENSG00000071909:ENST00000408978:exon20:c.A2318G:p.E773G,ENSG00000071909:ENST00000409044:exon20:c.A2318G:p.E773G,ENSG00000071909:ENST00000484338:exon20:c.A2345G:p.E782G Score=486;Name=lod=126 NA 2q31.1 NA NA NA NA rs33962844 0.25 0.25 0.207 0.248403 0.3509 0.2718 0.4251 0.0189 0.3037 0.35 0.25 0.36 0.02 0.3328 0.36 0.2 T 0.005 B 0.021 B 0.024 N 0.778 P 3.02 M -0.7 T -1.050 T 0.000 T 0.43 1.062 9.337 -0.056 -0.159 2.485 3.741 1.061972 NA 0.1 0.3481 0.081109 NA 0.167 NA 9.3015334 722 8 144620342 144620342 T C exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.A1195G:p.S399G exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.A1195G:p.S399G NA NA 8q24.3 NA NA NA NA rs1318196 0.39 0.39 0.386 0.417332 0.3479 0.2133 0.4654 0.5779 0.4479 0.37 0.24 0.44 0.56 0.3672 0.56 1 T 0.0 B 0.0 B 0.010 N 1.000 P -1.95 N 4.22 T -0.987 T 0.000 T 0.014 -1.126 0.121 3.82 1.019 1.005 7.957 -1.126009 NA 1 0.316818 0.526782 ID=COSM454139;OCCURENCE=1(breast) 0.355 NA 9.3014154 722 20 31767470 31767470 G C exonic BPIFA2 NA nonsynonymous SNV BPIFA2:NM_080574:exon7:c.G706C:p.V236L exonic ENSG00000131050 NA nonsynonymous SNV ENSG00000131050:ENST00000253362:exon7:c.G706C:p.V236L,ENSG00000131050:ENST00000354932:exon7:c.G706C:p.V236L NA NA 20q11.21 NA NA NA NA rs1075435 0.08 0.08 0.087 0.0926518 0.004 0.0317 0.0231 0.3116 NA 0.01 0.03 0.03 0.29 0.0273 0.29 0.27 T 0.0 B 0.001 B 0.240 N 1.000 P -0.55 N 3.67 T -0.902 T 0.000 T 0.014 0.629 7.382 -4.0 -1.413 -0.686 5.819 0.629044 NA 0.04 0.001977 0.245574 NA 0.065 NA 9.3000564 722 3 58410554 58410554 C T exonic PXK NA nonsynonymous SNV PXK:NM_017771:exon18:c.C1604T:p.A535V exonic ENSG00000168297 NA nonsynonymous SNV ENSG00000168297:ENST00000536660:exon15:c.C1193T:p.A398V,ENSG00000168297:ENST00000383716:exon16:c.C1505T:p.A502V,ENSG00000168297:ENST00000302779:exon17:c.C1553T:p.A518V,ENSG00000168297:ENST00000356151:exon18:c.C1604T:p.A535V NA NA 3p14.3 NA Name=Pol2(phosphoS2) NA NA rs34579268 0.24 0.24 0.252 0.205471 0.3777 0.001 0.2839 0.2141 0.1718 0.37 0.0035 0.31 0.27 0.284 0.37 0.19 T 0.0 B 0.0 B 0.481 N 0.999 P 0.41 N 2.17 T -0.979 T 0.000 T 0.143 0.87 8.525 -5.16 -0.924 -1.086 11.274 0.869609 NA 0.19 0.372674 0.216069 ID=COSM1599970;OCCURENCE=1(central_nervous_system) 0.312 NA 9.2989594 722 18 66564514 66564514 G C exonic CCDC102B NA nonsynonymous SNV CCDC102B:NM_024781:exon6:c.G1112C:p.R371T,CCDC102B:NM_001093729:exon8:c.G1112C:p.R371T exonic ENSG00000150636 NA nonsynonymous SNV ENSG00000150636:ENST00000584156:exon5:c.G1112C:p.R371T,ENSG00000150636:ENST00000319445:exon6:c.G1112C:p.R371T,ENSG00000150636:ENST00000360242:exon6:c.G1112C:p.R371T,ENSG00000150636:ENST00000358653:exon7:c.G1112C:p.R371T Score=567;Name=lod=269 NA 18q22.1 NA NA NA NA rs117721069 0.02 0.02 0.018 0.0191693 0.0139 0.0665 NA 0.0023 0.0123 0.02 0.07 NA 0.002 0.0134 0.07 1 T 0.0 B 0.0 B 0.060 N 1.000 N -1.815 N 3.43 T -0.965 T 0.000 T 0.078 1.439 10.75 1.62 0.029 1.359 2.225 1.43936 1.43936 1 0.007791 0.007717 NA 0.007 NA 9.2982424 722 19 49377424 49377424 G A exonic PPP1R15A NA nonsynonymous SNV PPP1R15A:NM_014330:exon2:c.G934A:p.G312S exonic ENSG00000087074 NA nonsynonymous SNV ENSG00000087074:ENST00000200453:exon2:c.G934A:p.G312S NA NA 19q13.33 NA NA NA NA rs11541192 0.14 0.14 0.146 0.152756 0.1849 0.0179 0.1023 0.2474 0.1667 0.18 0.02 0.11 0.21 0.1588 0.26 0.63 T 0.462 P 0.121 B 0.209 N 1.000 P 1.245 L 3.49 T -0.964 T 0.000 T 0.022 2.784 15.27 4.26 2.078 0.442 12.568 2.783964 2.783964 0.26 0.191977 0.25783 NA 0.203 NA 9.2976564 722 3 97660106 97660106 A C exonic CRYBG3 NA nonsynonymous SNV CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H exonic ENSG00000080200 NA nonsynonymous SNV ENSG00000080200:ENST00000389622:exon5:c.A397C:p.N133H,ENSG00000080200:ENST00000182096:exon17:c.A2776C:p.N926H NA NA 3q11.2 NA NA NA NA rs4857302 0.51 0.51 0.501 0.48143 0.5139 0.6875 0.5101 0.2648 0.5082 0.52 0.73 0.46 0.29 0.5083 0.73 0.03 D 0.963 D 0.671 P 0.040 N 1.000 P 1.585 L 1.6 T -1.002 T 0.000 T 0.148 1.502 10.97 3.35 0.077 0.703 5.992 1.501933 1.501933 0.02 0.513655 0.293287 NA 0.449 NA 9.2974784 723 1 14105139 14105139 T A exonic PRDM2 NA nonsynonymous SNV PRDM2:NM_001007257:exon3:c.T246A:p.D82E,PRDM2:NM_012231:exon8:c.T849A:p.D283E,PRDM2:NM_015866:exon8:c.T849A:p.D283E exonic ENSG00000116731 NA nonsynonymous SNV ENSG00000116731:ENST00000413440:exon3:c.T246A:p.D82E,ENSG00000116731:ENST00000343137:exon4:c.T246A:p.D82E,ENSG00000116731:ENST00000235372:exon8:c.T849A:p.D283E,ENSG00000116731:ENST00000311066:exon8:c.T849A:p.D283E Score=321;Name=lod=27 NA 1p36.21 NA NA NA NA rs2076324 0.35 0.35 0.288 0.371206 0.327 0.3988 0.5375 0.208 0.4908 0.32 0.42 0.51 0.2 0.3563 0.51 1 T 0.005 B 0.002 B 0.174 N 0.000 P -1.23 N 4.98 T -1.058 T 0.000 T 0.059 -2.514 0.003 -3.62 -1.465 -0.258 3.302 -2.513786 NA 1 0.356512 0.250567 NA 0.319 NA 9.2935214 723 1 20009790 20009790 C T exonic TMCO4 NA nonsynonymous SNV TMCO4:NM_181719:exon16:c.G1648A:p.A550T exonic ENSG00000162542 NA nonsynonymous SNV ENSG00000162542:ENST00000375122:exon15:c.G1528A:p.A510T,ENSG00000162542:ENST00000375127:exon15:c.G1648A:p.A550T,ENSG00000162542:ENST00000294543:exon16:c.G1648A:p.A550T NA NA 1p36.13 NA NA NA NA rs41312012 0.0041 0.0041 0.002 0.00559105 0.0119 NA 0.0043 NA 0.0133 0.01 NA 0.0028 NA 0.0133 0.015 0.69 T 0.09 B 0.008 B 0.489 N 1.000 N 0.55 N 1.55 T -0.989 T 0.019 T 0.058 1.888 12.27 -7.47 -0.937 -2.627 4.873 1.887704 1.887704 0.04 0.014651 0.001816 NA 0.007 NA 9.2934824 723 6 54186147 54186147 T C exonic TINAG NA nonsynonymous SNV TINAG:NM_014464:exon3:c.T472C:p.S158P exonic ENSG00000137251 NA nonsynonymous SNV ENSG00000137251:ENST00000259782:exon3:c.T472C:p.S158P,ENSG00000137251:ENST00000370864:exon3:c.T418C:p.S140P,ENSG00000137251:ENST00000370869:exon4:c.T460C:p.S154P Score=358;Name=lod=38 NA 6p12.1 NA NA NA NA rs1058768 0.75 0.75 0.766 0.737819 0.6968 0.8472 0.6239 0.8238 0.6319 0.7 0.84 0.62 0.82 0.6839 0.84 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.24 N 1.09 T -0.981 T 0.007 T 0.157 0.069 4.375 5.53 1.357 1.391 10.639 0.069084 NA 1 0.659651 0.783477 NA 0.659 NA 9.2929824 723 11 44940828 44940828 G A exonic TSPAN18 NA nonsynonymous SNV TSPAN18:NM_130783:exon6:c.G397A:p.V133I exonic ENSG00000157570 NA nonsynonymous SNV ENSG00000157570:ENST00000340160:exon6:c.G397A:p.V133I,ENSG00000157570:ENST00000533080:exon6:c.G202A:p.V68I,ENSG00000157570:ENST00000520358:exon7:c.G397A:p.V133I,ENSG00000157570:ENST00000533786:exon7:c.G397A:p.V133I,ENSG00000157570:ENST00000520999:exon8:c.G427A:p.V143I Score=397;Name=lod=55 NA 11p11.2 NA NA NA NA rs2291334 0.34 0.34 0.299 0.347045 0.329 0.5575 0.415 0.034 0.5235 0.33 0.55 0.43 0.04 0.3701 0.55 0.2 T 0.363 B 0.181 B 0.013 N 0.000 P 1.175 L -1.27 T -0.931 T 0.000 T 0.102 1.671 11.55 2.4 0.622 5.142 9.262 1.671289 1.671289 0.17 0.341591 0.099864 NA 0.21 NA 9.2926424 723 1 21804620 21804620 C T exonic NBPF3 NA nonsynonymous SNV NBPF3:NM_001256416:exon9:c.C1051T:p.P351S exonic ENSG00000142794 NA nonsynonymous SNV ENSG00000142794:ENST00000342104:exon9:c.C1051T:p.P351S NA NA 1p36.12 NA NA NA NA rs182761944 0.01 0.01 NA 0.00339457 0.0109 NA 0.0086 NA NA 0.01 NA 0.01 NA 0.0129 0.019 0.81 T 0.003 B 0.001 B . . 1.000 N . . 4.29 T -0.931 T 0.002 T 0.076 -1.941 0.007 -1.96 -3.014 -3.348 0.412 -1.940573 NA NA 0.018837 0.00227 NA 0.007 NA 9.2906964 723 21 45959256 45959256 C G exonic KRTAP10-1 NA nonsynonymous SNV KRTAP10-1:NM_198691:exon1:c.G778C:p.A260P exonic ENSG00000215455 NA nonsynonymous SNV ENSG00000215455:ENST00000400375:exon1:c.G778C:p.A260P NA NA 21q22.3 Score=955;Name=V$AP4_Q5 NA NA NA rs143105755 0.01 0.01 0.007 0.00599042 0.0189 0.001 0.0029 0.0061 NA 0.02 NA 0.0028 0.002 0.0103 0.02 1 T 0.0 B 0.001 B . . 1.000 N -1.995 N 5.83 T -0.957 T 0.000 T 0.048 -0.802 0.672 -1.99 -0.658 1.652 5.017 -0.801637 NA 1 0.013611 0.004085 NA NA NA 9.2905224 723 20 31890175 31890175 G T exonic BPIFB1 NA nonsynonymous SNV BPIFB1:NM_033197:exon10:c.G938T:p.S313I exonic ENSG00000125999 NA nonsynonymous SNV ENSG00000125999:ENST00000253354:exon10:c.G938T:p.S313I NA NA 20q11.21 NA NA NA NA rs6120222 0.1 0.1 0.113 0.118411 0.005 NA 0.0245 0.4319 NA 0.01 NA 0.03 0.41 0.0348 0.41 0.19 T 0.0 B 0.0 B 0.853 N 1.000 P -0.895 N 3.19 T -0.917 T 0.000 T 0.03 -0.584 1.38 3.27 0.296 1.275 4.887 -0.583585 NA 0.83 0.003023 0.354063 NA 0.101 NA 9.2905104 723 5 128301885 128301885 T G exonic SLC27A6 NA nonsynonymous SNV SLC27A6:NM_001017372:exon1:c.T55G:p.L19V,SLC27A6:NM_014031:exon2:c.T55G:p.L19V exonic ENSG00000113396 NA nonsynonymous SNV ENSG00000113396:ENST00000262462:exon1:c.T55G:p.L19V,ENSG00000113396:ENST00000395266:exon2:c.T55G:p.L19V,ENSG00000113396:ENST00000506176:exon2:c.T55G:p.L19V NA NA 5q23.3 NA NA NA NA rs2526247 0.24 0.24 0.22 0.207069 0.3668 0.0585 0.2522 0.1853 0.1933 0.36 0.07 0.31 0.21 0.3 0.38 0.6 T 0.001 B 0.002 B 0.850 N 1.000 P 1.355 L 0.61 T -1.026 T 0.000 T 0.035 -0.257 2.764 -8.9 -3.239 -6.036 2.438 -0.257268 NA 0.81 0.376047 0.220608 NA 0.123 NA 9.2904864 723 7 45932669 45932669 A G exonic IGFBP1 NA nonsynonymous SNV IGFBP1:NM_000596:exon4:c.A759G:p.I253M exonic ENSG00000146678 NA nonsynonymous SNV ENSG00000146678:ENST00000468955:exon3:c.A630G:p.I210M,ENSG00000146678:ENST00000275525:exon4:c.A759G:p.I253M,ENSG00000146678:ENST00000457280:exon4:c.A753G:p.I251M NA NA 7p12.3 NA Name=HEY1 NA NA rs4619 0.4 0.4 0.397 0.375998 0.334 0.5268 0.3588 0.444 0.184 0.34 0.49 0.28 0.49 0.3557 0.49 0.04 D 0.003 B 0.005 B 0.096 N 1.000 P 0.345 N -0.01 T -0.939 T 0.000 T 0.01 -0.621 1.24 1.51 0.045 1.012 6.171 -0.621478 NA 0.07 0.353605 0.453473 NA 0.355 NA 9.2900284 723 19 35175208 35175208 A G exonic ZNF302 NA nonsynonymous SNV ZNF302:NM_001012320:exon5:c.A266G:p.Y89C,ZNF302:NM_018443:exon5:c.A266G:p.Y89C exonic ENSG00000089335 NA nonsynonymous SNV ENSG00000089335:ENST00000423823:exon5:c.A266G:p.Y89C,ENSG00000089335:ENST00000457781:exon5:c.A266G:p.Y89C,ENSG00000089335:ENST00000505163:exon5:c.A266G:p.Y89C,ENSG00000089335:ENST00000505242:exon5:c.A266G:p.Y89C,ENSG00000089335:ENST00000446502:exon6:c.A398G:p.Y133C Score=272;Name=lod=17 NA 19q13.11 NA NA NA NA rs2290652 0.28 0.28 0.261 0.250599 0.3767 0.3006 0.2075 0.1369 0.2536 0.37 0.3 0.23 0.15 0.3116 0.37 0.12 T 1.0 D 0.998 D . . 0.000 P . . 6.05 T -0.904 T 0.000 T 0.153 1.288 10.21 0.967 0.686 0.223 4.169 1.288432 1.288432 0.12 0.35586 0.172775 NA 0.225 NA 9.2891734 723 19 35175775 35175775 C T exonic ZNF302 NA nonsynonymous SNV ZNF302:NM_001012320:exon5:c.C833T:p.T278I,ZNF302:NM_018443:exon5:c.C833T:p.T278I exonic ENSG00000089335 NA nonsynonymous SNV ENSG00000089335:ENST00000423823:exon5:c.C833T:p.T278I,ENSG00000089335:ENST00000457781:exon5:c.C833T:p.T278I,ENSG00000089335:ENST00000505242:exon5:c.C833T:p.T278I,ENSG00000089335:ENST00000446502:exon6:c.C965T:p.T322I Score=403;Name=lod=58 NA 19q13.11 NA NA NA NA rs11543232 0.28 0.28 0.26 0.250599 0.3767 0.3006 0.2075 0.1369 0.2536 0.37 0.3 0.23 0.15 0.3089 0.37 1 T 0.998 D 0.993 D . . 0.000 P 0.22 N 2.66 T -1.014 T 0.000 T 0.059 -0.517 1.64 0.967 0.822 0.177 3.223 -0.516644 NA 0.4 0.358953 0.185429 NA 0.225 NA 9.2887804 723 6 49701523 49701523 A G exonic CRISP3 NA nonsynonymous SNV CRISP3:NM_001190986:exon5:c.T385C:p.S129P,CRISP3:NM_006061:exon5:c.T355C:p.S119P exonic ENSG00000096006 NA nonsynonymous SNV ENSG00000096006:ENST00000423399:exon3:c.T46C:p.S16P,ENSG00000096006:ENST00000393666:exon4:c.T316C:p.S106P,ENSG00000096006:ENST00000263045:exon5:c.T355C:p.S119P,ENSG00000096006:ENST00000354620:exon5:c.T385C:p.S129P,ENSG00000096006:ENST00000371159:exon5:c.T409C:p.S137P,ENSG00000096006:ENST00000433368:exon5:c.T385C:p.S129P NA NA 6p12.3 NA NA Name=5 NA rs495335 0.68 0.68 0.644 0.67512 0.6948 0.5476 0.7594 0.7383 0.6411 0.69 0.54 0.75 0.76 0.68 0.76 1 T 0.0 B 0.0 B 0.004 N 1.000 P -1.43 N 3.06 T -0.980 T 0.010 T 0.321 -0.438 1.963 5.1 1.156 1.944 9.818 -0.438361 NA 1 0.672558 0.744439 NA 0.739 NA 9.2859754 724 19 37644489 37644489 A T exonic ZNF585A NA nonsynonymous SNV ZNF585A:NM_152655:exon6:c.T147A:p.H49Q,ZNF585A:NM_199126:exon6:c.T147A:p.H49Q exonic ENSG00000196967 NA nonsynonymous SNV ENSG00000196967:ENST00000356958:exon5:c.T312A:p.H104Q,ENSG00000196967:ENST00000292841:exon6:c.T147A:p.H49Q,ENSG00000196967:ENST00000355533:exon6:c.T147A:p.H49Q,ENSG00000196967:ENST00000392157:exon6:c.T147A:p.H49Q NA NA 19q13.12 NA NA NA NA rs62110074 0.01 0.01 0.007 0.00539137 0.0179 NA 0.0086 0.0008 0.002 0.03 0.0017 0.02 0.01 0.0115 0.03 0.01 D 0.091 B 0.11 B 0.243 U 1.000 N 0.625 N 3.41 T -1.036 T 0.018 T 0.124 2.293 13.63 2.74 0.617 -0.029 5.410 2.293317 2.293317 0.32 0.019651 0.002952 NA 0.022 NA 9.2842824 724 19 8389405 8389405 G A exonic KANK3 NA synonymous SNV KANK3:NM_198471:exon10:c.C2310T:p.A770A exonic ENSG00000186994 NA synonymous SNV ENSG00000186994:ENST00000330915:exon10:c.C2310T:p.A770A,ENSG00000186994:ENST00000593649:exon10:c.C2310T:p.A770A Score=541;Name=lod=210 NA 19p13.2 Score=838;Name=V$HNF4_01 Name=CTCF_(C-20),JunD,CTCF_(SC-5916),Rad21,CTCF,Pol2 Name=37 NA rs12981073 0.15 0.15 0.16 0.153554 0.1223 0.0655 0.1383 0.295 0.0961 0.12 0.07 0.15 0.28 0.1386 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438534 NA NA 0.122442 0.249887 NA 0.138 NA 9.2833246 724 19 21719719 21719719 T A exonic ZNF429 NA nonsynonymous SNV ZNF429:NM_001001415:exon4:c.T864A:p.D288E exonic ENSG00000197013 NA nonsynonymous SNV ENSG00000197013:ENST00000358491:exon4:c.T864A:p.D288E NA NA 19p12 NA Name=SETDB1,ZNF274,KAP1 NA NA rs143458227 0.01 0.01 0.005 0.0135783 0.0179 NA 0.0231 NA 0.0348 0.02 NA 0.02 NA 0.0181 0.02 0.95 T 0.109 B 0.015 B . . 1.000 N -0.685 N 3.21 T -0.936 T 0.003 T 0.036 -1.043 0.203 -1.6 0.251 -3.401 2.347 -1.042878 NA 1 0.014142 0.002563 NA 0.007 NA 9.2831914 724 19 49964977 49964977 C G exonic ALDH16A1 NA nonsynonymous SNV ALDH16A1:NM_001145396:exon6:c.C679G:p.L227V,ALDH16A1:NM_153329:exon6:c.C679G:p.L227V exonic ENSG00000161618 NA nonsynonymous SNV ENSG00000161618:ENST00000540132:exon3:c.C190G:p.L64V,ENSG00000161618:ENST00000433981:exon4:c.C184G:p.L62V,ENSG00000161618:ENST00000293350:exon6:c.C679G:p.L227V,ENSG00000161618:ENST00000455361:exon6:c.C679G:p.L227V NA NA 19q13.33 NA Name=SETDB1 NA NA rs1320303 0.52 0.52 0.551 0.510184 0.7107 0.3214 0.4222 0.5257 0.5399 0.69 0.3 0.49 0.55 0.6222 0.72 1 T 0.001 B 0.003 B 0.762 N 1.000 P -1.175 N 1.93 T -0.978 T 0.000 T 0.052 -3.957 0.001 -9.23 -2.738 -3.278 13.206 -3.95699 NA 1 0.71731 0.521848 NA 0.442 NA 9.2831234 724 3 12475557 12475557 C T exonic PPARG NA synonymous SNV PPARG:NM_005037:exon7:c.C1347T:p.H449H,PPARG:NM_015869:exon7:c.C1431T:p.H477H,PPARG:NM_138711:exon8:c.C1347T:p.H449H,PPARG:NM_138712:exon8:c.C1347T:p.H449H exonic ENSG00000132170 NA synonymous SNV ENSG00000132170:ENST00000287820:exon7:c.C1431T:p.H477H,ENSG00000132170:ENST00000397015:exon7:c.C1347T:p.H449H,ENSG00000132170:ENST00000309576:exon8:c.C1347T:p.H449H,ENSG00000132170:ENST00000397010:exon8:c.C1347T:p.H449H,ENSG00000132170:ENST00000397012:exon8:c.C1347T:p.H449H,ENSG00000132170:ENST00000397026:exon9:c.C1365T:p.H455H Score=466;Name=lod=104 NA 3p25.2 Score=943;Name=V$USF_C Name=STAT3,Pol2 NA NA rs3856806 0.12 0.12 0.103 0.126597 0.1213 0.2113 0.1138 0.0484 0.1595 0.13 0.2 0.08 0.04 0.134 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879475 NA NA 0.128488 0.064004 NA 0.138 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Glioma_susceptibility_1|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000008615.2|RCV000118043.2;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet|.;CLNDSDBID=C2750850:137800:ORPHA360:ORPHA94|. 9.2828786 724 2 228194481 228194481 G T exonic MFF NA nonsynonymous SNV MFF:NM_001277061:exon3:c.G20T:p.S7I,MFF:NM_020194:exon3:c.G20T:p.S7I exonic ENSG00000168958 NA nonsynonymous SNV ENSG00000168958:ENST00000353339:exon3:c.G20T:p.S7I,ENSG00000168958:ENST00000392059:exon3:c.G20T:p.S7I,ENSG00000168958:ENST00000436237:exon3:c.G20T:p.S7I,ENSG00000168958:ENST00000443428:exon3:c.G20T:p.S7I Score=534;Name=lod=198 NA 2q36.3 NA NA NA NA rs3211098 0.2 0.2 0.199 0.272364 0.3748 0.245 0.2493 0.0961 0.4499 0.27 0.19 0.24 0.07 0.3292 0.35 . . 0.079 B 0.035 B 0.013 N 0.000 P 0.69 N 1.35 T -0.965 T 0.000 T 0.264 1.793 11.95 3.1 0.365 2.061 7.081 1.792561 1.792561 0 0.347093 0.117113 NA NA NA 9.2822404 724 2 17947886 17947886 G A exonic GEN1 NA nonsynonymous SNV GEN1:NM_001130009:exon5:c.G566A:p.S189N,GEN1:NM_182625:exon5:c.G566A:p.S189N exonic ENSG00000178295 NA nonsynonymous SNV ENSG00000178295:ENST00000317402:exon5:c.G566A:p.S189N,ENSG00000178295:ENST00000381254:exon5:c.G566A:p.S189N NA NA 2p24.2 Score=810;Name=V$PBX1_02 NA NA NA rs116772931 0.01 0.01 0.006 0.00938498 0.0199 NA 0.0202 0.0008 0.0123 0.02 NA 0.01 NA 0.0125 0.022 0.19 T 0.002 B 0.009 B 0.489 N 1.000 N 0.345 N -0.49 T -1.053 T 0.072 T 0.027 0.973 8.972 -2.36 -0.400 0.268 3.703 0.973193 NA 0.05 0.018837 0.003858 NA 0.014 NA 9.2820964 724 19 52887603 52887603 G A exonic ZNF880 NA nonsynonymous SNV ZNF880:NM_001145434:exon4:c.G770A:p.R257Q exonic ENSG00000221923 NA nonsynonymous SNV ENSG00000221923:ENST00000422689:exon4:c.G770A:p.R257Q NA NA 19q13.41 NA NA NA NA rs78052167 0.02 0.02 NA 0.0211661 0.0298 0.0536 0.0288 0.0008 0.001 0.03 NA 0.04 0.0041 0.0221 0.04 . . 0.294 B 0.064 B . . 1.000 N 0.285 N 1.75 T -1.011 T 0.006 T 0.074 -0.7 0.973 -3.79 -0.882 -7.860 3.169 -0.699584 NA 0.56 NA NA NA 0.007 NA 9.2814334 724 4 8621172 8621172 G A exonic CPZ NA nonsynonymous SNV CPZ:NM_003652:exon10:c.G1754A:p.R585Q,CPZ:NM_001014447:exon11:c.G1787A:p.R596Q,CPZ:NM_001014448:exon11:c.G1376A:p.R459Q exonic ENSG00000109625 NA nonsynonymous SNV ENSG00000109625:ENST00000429646:exon9:c.G611A:p.R204Q,ENSG00000109625:ENST00000315782:exon10:c.G1754A:p.R585Q,ENSG00000109625:ENST00000360986:exon11:c.G1787A:p.R596Q,ENSG00000109625:ENST00000382480:exon11:c.G1376A:p.R459Q NA NA 4p16.1 NA NA NA NA rs61734020 0.02 0.02 0.016 0.0215655 0.0179 0.0238 0.0086 0.0424 0.0041 0.02 0.02 0.01 0.03 0.0175 0.046 0.59 T 0.033 B 0.003 B 0.000 N 1.000 N 1.7 L 2.12 T -1.076 T 0.021 T 0.077 1.928 12.4 -5.92 -1.323 -0.088 2.465 1.928003 1.928003 0.07 0.017791 0.046074 NA 0.014 NA 9.2801424 724 2 203155936 203155936 A C exonic NOP58 NA synonymous SNV NOP58:NM_015934:exon8:c.A723C:p.S241S exonic ENSG00000055044 NA synonymous SNV ENSG00000055044:ENST00000433543:exon4:c.A333C:p.S111S,ENSG00000055044:ENST00000264279:exon8:c.A723C:p.S241S Score=626;Name=lod=467 NA 2q33.1 Score=858;Name=V$CDPCR3_01 Name=PU.1 Name=32 NA rs3731700 0.1 0.1 0.071 0.124401 0.1402 0.123 0.1427 0.0053 0.2577 0.14 0.1 0.15 0.01 0.1264 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.356063 1.356063 NA 0.121628 0.024739 NA 0.065 NA 9.2784386 724 9 99537071 99537071 T C exonic ZNF510 NA nonsynonymous SNV ZNF510:NM_014930:exon3:c.A128G:p.Q43R exonic ENSG00000081386 NA nonsynonymous SNV ENSG00000081386:ENST00000223428:exon3:c.A128G:p.Q43R,ENSG00000081386:ENST00000374641:exon3:c.A128G:p.Q43R,ENSG00000081386:ENST00000375231:exon3:c.A128G:p.Q43R Score=349;Name=lod=35 NA 9q22.33 NA NA NA NA rs2289651 0.08 0.08 0.084 0.0617013 0.0129 0.2063 0.0202 0.0265 0.0399 0.01 0.25 0.02 0.02 0.0322 0.25 0.07 T 0.267 B 0.039 B . . 0.000 P 0 N 5.46 T -0.935 T 0.000 T 0.114 2.209 13.34 1.52 0.438 1.940 5.073 2.209217 2.209217 0.01 0.010465 0.022242 ID=COSM150637;OCCURENCE=1(stomach) 0.058 NA 9.2777684 724 16 28883241 28883241 A G exonic SH2B1 NA nonsynonymous SNV SH2B1:NM_015503:exon5:c.A1450G:p.T484A,SH2B1:NM_001145795:exon6:c.A1450G:p.T484A,SH2B1:NM_001145796:exon6:c.A1450G:p.T484A,SH2B1:NM_001145797:exon6:c.A1450G:p.T484A,SH2B1:NM_001145812:exon6:c.A1450G:p.T484A exonic ENSG00000178188 NA nonsynonymous SNV ENSG00000178188:ENST00000337120:exon5:c.A1450G:p.T484A,ENSG00000178188:ENST00000538342:exon5:c.A442G:p.T148A,ENSG00000178188:ENST00000545570:exon5:c.A520G:p.T174A,ENSG00000178188:ENST00000566176:exon5:c.A511G:p.T171A,ENSG00000178188:ENST00000359285:exon6:c.A1450G:p.T484A,ENSG00000178188:ENST00000395532:exon6:c.A1450G:p.T484A,ENSG00000178188:ENST00000322610:exon8:c.A1450G:p.T484A Score=585;Name=lod=318 Name=Body mass index,Weight,Obesity 16p11.2 NA NA NA NA rs7498665 0.27 0.27 0.23 0.261382 0.329 0.126 0.4856 0.2277 0.2178 0.34 0.13 0.4 0.21 0.3453 0.4 0.89 T 0.0 B 0.0 B 0.587 N 1.000 P 0 N 1.66 T -0.931 T 0.000 T 0.024 0.017 4.1 3.08 0.567 0.782 4.220 0.016531 NA 0.31 0.381395 0.270369 ID=COSM148065;OCCURENCE=1(stomach) 0.145 NA 9.2776384 724 6 30893428 30893428 G A exonic VARS2 NA nonsynonymous SNV VARS2:NM_001167733:exon27:c.G2473A:p.A825T,VARS2:NM_001167734:exon28:c.G2983A:p.A995T,VARS2:NM_020442:exon28:c.G2893A:p.A965T exonic ENSG00000137411 NA nonsynonymous SNV ENSG00000137411:ENST00000321897:exon27:c.G2893A:p.A965T,ENSG00000137411:ENST00000542001:exon27:c.G2473A:p.A825T,ENSG00000137411:ENST00000416670:exon28:c.G2893A:p.A965T,ENSG00000137411:ENST00000541562:exon28:c.G2983A:p.A995T NA NA 6p21.33 Score=877;Name=V$AREB6_03 NA NA NA rs2252863 0.24 0.24 0.24 0.223043 0.3559 0.247 0.2075 0.0983 0.2413 0.35 0.28 0.2 0.06 0.3295 0.37 0.51 T 0.098 B 0.011 B 0.539 N 1.000 P 1.845 L 1.44 T -1.016 T 0.023 T 0.071 0.008 4.057 -2.55 -0.547 -1.432 6.792 0.008232 NA 0.35 0.370693 0.143 NA 0.268 NA 9.2772404 724 3 184429414 184429414 C A exonic MAGEF1 NA nonsynonymous SNV MAGEF1:NM_022149:exon1:c.G196T:p.A66S exonic ENSG00000177383 NA nonsynonymous SNV ENSG00000177383:ENST00000317897:exon1:c.G196T:p.A66S NA NA 3q27.1 NA Name=ELF1_(SC-631),CTCF,E2F6_(H-50),YY1_(C-20),HA-E2F1,E2F6,ZNF263,Pol2 Name=147 NA rs10937187 0.52 0.52 0.498 0.493011 0.7356 0.4355 0.4741 0.3094 0.5644 0.75 0.4 0.52 0.31 0.6072 0.75 0.3 T 0.063 B 0.026 B 0.254 N 1.000 P 0.55 N 3.73 T -1.014 T 0.000 T 0.069 0.797 8.197 2.1 0.581 1.444 5.094 0.797357 NA 0.86 0.713654 0.348842 NA 0.551 NA 9.2768794 724 1 120054215 120054215 A G exonic HSD3B1 NA nonsynonymous SNV HSD3B1:NM_000862:exon3:c.A235G:p.I79V exonic ENSG00000203857 NA nonsynonymous SNV ENSG00000203857:ENST00000528909:exon2:c.A235G:p.I79V,ENSG00000203857:ENST00000235547:exon3:c.A241G:p.I81V,ENSG00000203857:ENST00000369413:exon3:c.A235G:p.I79V,ENSG00000203857:ENST00000531340:exon3:c.A235G:p.I79V Score=387;Name=lod=50 NA 1p12 NA NA NA NA rs6201 0.09 0.09 0.081 0.136581 0.005 0.0546 0.0706 0.385 0.0675 0.0013 0.03 0.06 0.33 0.0482 0.33 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.72 N -1.46 T -0.998 T 0.045 T 0.201 -2.694 0 0.153 0.119 2.367 7.304 -2.693868 NA 1 0.003372 0.315706 NA 0.109 NA 9.2767614 724 19 12089709 12089709 T C exonic ZNF763 NA nonsynonymous SNV ZNF763:NM_001012753:exon4:c.T979C:p.Y327H exonic ENSG00000197054,ENSG00000267179 NA nonsynonymous SNV ENSG00000197054:ENST00000545530:exon2:c.T604C:p.Y202H,ENSG00000197054:ENST00000343949:exon4:c.T979C:p.Y327H,ENSG00000197054:ENST00000358987:exon4:c.T970C:p.Y324H,ENSG00000197054:ENST00000538752:exon4:c.T1030C:p.Y344H,ENSG00000267179:ENST00000590798:exon4:c.T1030C:p.Y344H NA NA 19p13.2 NA NA NA NA rs7254529 0.02 0.02 0.016 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 0.0167 0.03 0.54 T 0.0 B 0.0 B . . 1.000 N -0.085 N 2.47 T -0.976 T 0.006 T 0.01 -1.931 0.008 -1.55 -2.052 -1.474 4.559 -1.931359 NA 0.53 0.018264 0.027841 NA 0.014 NA 9.2754694 724 9 136199503 136199503 G A exonic SURF6 NA nonsynonymous SNV SURF6:NM_006753:exon4:c.C487T:p.R163W exonic ENSG00000148296 NA nonsynonymous SNV ENSG00000148296:ENST00000372022:exon4:c.C487T:p.R163W NA NA 9q34.2 NA NA NA NA rs886090 0.27 0.27 0.224 0.282947 0.3569 0.3075 0.3501 0.0386 0.4642 0.37 0.28 0.34 0.06 0.3503 0.37 0.02 D 0.999 D 0.91 D 0.297 N 0.999 P 1.78 L 2.4 T -0.946 T 0.000 T 0.065 1.233 10.01 1.02 0.029 0.524 6.647 1.233467 1.233467 0.02 0.35093 0.08443 NA 0.21 NA 9.2752034 724 11 82643760 82643760 G T exonic C11orf82 NA nonsynonymous SNV C11orf82:NM_145018:exon6:c.G1380T:p.R460S exonic ENSG00000165490 NA nonsynonymous SNV ENSG00000165490:ENST00000329143:exon2:c.G477T:p.R159S,ENSG00000165490:ENST00000533655:exon6:c.G1380T:p.R460S,ENSG00000165490:ENST00000430323:exon7:c.G1380T:p.R460S NA NA 11q14.1 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) Name=3 NA rs7947780 0.3 0.3 0.296 0.307508 0.3579 0.3244 0.4049 0.1793 0.3425 0.36 0.3 0.35 0.19 0.3483 0.36 . . 0.048 B 0.014 B 0.226 N 1.000 P 1.59 L 1.12 T -0.967 T 0.000 T 0.278 -0.014 3.944 2.37 0.534 0.093 5.656 -0.013559 NA 0.01 0.352093 0.223332 NA 0.21 NA 9.2750404 725 3 66430811 66430811 T G exonic LRIG1 NA nonsynonymous SNV LRIG1:NM_015541:exon19:c.A3158C:p.Q1053P exonic ENSG00000144749 NA nonsynonymous SNV ENSG00000144749:ENST00000273261:exon19:c.A3158C:p.Q1053P,ENSG00000144749:ENST00000383703:exon20:c.A3089C:p.Q1030P NA NA 3p14.1 NA NA NA NA rs2279290 0.12 0.12 0.102 0.108027 0.1958 0.0556 0.1138 0.084 0.1002 0.2 0.05 0.13 0.09 0.1621 0.2 0.08 T 0.467 P 0.134 B 0.002 N 0.999 P 1.61 L -0.21 T -1.084 T 0.000 T 0.499 1.253 10.08 3.13 0.931 2.859 9.968 1.25274 1.25274 0.01 0.200698 0.096686 NA 0.174 NA 9.2747354 725 4 10099340 10099340 T C exonic WDR1 NA nonsynonymous SNV WDR1:NM_017491:exon5:c.A553G:p.I185V exonic ENSG00000071127 NA nonsynonymous SNV ENSG00000071127:ENST00000508079:exon4:c.A565G:p.I189V,ENSG00000071127:ENST00000382452:exon5:c.A553G:p.I185V,ENSG00000071127:ENST00000499869:exon5:c.A553G:p.I185V NA NA 4p16.1 Score=884;Name=V$SRY_02 Name=Pol2-4H8 NA NA rs13441 0.62 0.62 0.598 0.57528 0.7097 0.6538 0.7147 0.3941 0.502 0.7 0.62 0.73 0.4 0.6492 0.73 0.2 T 0.019 B 0.026 B 0.006 N 0.999 P 0.615 N 0.2 T -0.978 T 0.000 T 0.107 1.004 9.102 4.35 0.917 1.162 10.392 1.004302 NA 0.64 0.70029 0.461089 NA 0.601 NA 9.2741434 725 1 76397972 76397972 C T exonic ASB17 NA nonsynonymous SNV ASB17:NM_080868:exon1:c.G5A:p.S2N exonic ENSG00000154007 NA nonsynonymous SNV ENSG00000154007:ENST00000284142:exon1:c.G5A:p.S2N Score=412;Name=lod=63 NA 1p31.1 NA NA NA NA rs3795251 0.38 0.38 0.355 0.396565 0.3221 0.7073 0.2983 0.1884 0.5041 0.33 0.64 0.32 0.19 0.3856 0.64 0.22 T 0.002 B 0.002 B 0.003 N 0.990 P 0.205 N 1.3 T -1.034 T 0.019 T 0.046 0.685 7.663 3.13 0.434 1.304 8.176 0.685413 NA 0.79 0.351886 0.19877 NA 0.449 NA 9.2737474 725 12 71094955 71094955 C T exonic PTPRR NA nonsynonymous SNV PTPRR:NM_130846:exon3:c.G421A:p.V141I,PTPRR:NM_001207016:exon4:c.G538A:p.V180I,PTPRR:NM_001207015:exon6:c.G820A:p.V274I,PTPRR:NM_002849:exon7:c.G1156A:p.V386I exonic ENSG00000153233 NA nonsynonymous SNV ENSG00000153233:ENST00000440835:exon3:c.G421A:p.V141I,ENSG00000153233:ENST00000378778:exon4:c.G538A:p.V180I,ENSG00000153233:ENST00000549308:exon4:c.G421A:p.V141I,ENSG00000153233:ENST00000550661:exon4:c.G421A:p.V141I,ENSG00000153233:ENST00000342084:exon6:c.G820A:p.V274I,ENSG00000153233:ENST00000283228:exon7:c.G1156A:p.V386I Score=622;Name=lod=450 NA 12q15 Score=821;Name=V$HEN1_01 NA NA NA rs35387004 0.06 0.06 0.058 0.0708866 0.0139 0.006 0.072 0.2035 0.0164 0.01 0.0017 0.06 0.2 0.0307 0.2 0.2 T 0.001 B 0.001 B 0.264 N 0.989 P 0.46 N 1.59 T -1.011 T 0.000 T 0.118 1.407 10.64 1.04 0.376 0.070 8.502 1.40672 1.40672 0.28 0.015116 0.150023 NA 0.08 NA 9.2736174 725 10 26357748 26357748 G A exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon12:c.G1105A:p.V369I exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000543632:exon11:c.G1105A:p.V369I,ENSG00000095777:ENST00000265944:exon12:c.G1105A:p.V369I Score=580;Name=lod=304 NA 10p12.1 NA NA NA NA rs3817420 0.62 0.62 0.628 0.66893 0.7227 0.6181 0.6369 0.7133 0.6288 0.63 0.59 0.6 0.65 0.6794 0.68 0.21 T 0.001 B 0.001 B 0.000 N 0.000 P -0.345 N -0.59 T -0.903 T 0.000 T 0.051 1.999 12.64 3.19 0.068 4.224 6.144 1.999339 1.999339 0.36 0.65907 0.681798 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039024.1;CLNDSDB=.;CLNDSDBID=. 9.2721634 725 4 39448529 39448529 G A exonic KLB NA nonsynonymous SNV KLB:NM_175737:exon4:c.G2183A:p.R728Q exonic ENSG00000134962 NA nonsynonymous SNV ENSG00000134962:ENST00000257408:exon4:c.G2183A:p.R728Q NA NA 4p14 NA Name=c-Myc,CTCF,Pol2-4H8,HA-E2F1,Pol2 Name=117 NA rs17618244 0.16 0.16 0.137 0.153754 0.1909 0.1885 0.2219 0.0514 0.1697 0.17 0.18 0.22 0.06 0.1796 0.22 0.37 T 0.66 P 0.127 B 0.029 N 1.000 P 0.91 L 1.59 T -0.957 T 0.000 T 0.049 1.168 9.751 0.475 -0.262 0.400 5.966 1.16751 NA 0.33 0.191457 0.068213 NA 0.123 NA 9.2713764 725 12 6442346 6442346 A G intronic TNFRSF1A NA NA NA exonic ENSG00000067182 NA nonsynonymous SNV ENSG00000067182:ENST00000440083:exon4:c.T659C:p.F220S NA NA 12p13.31 Score=830;Name=V$AHRARNT_01 NA Name=5 NA rs1800692 0.69 0.69 0.704 0.71266 0.6322 0.4653 0.7104 0.9705 0.7035 0.63 0.52 0.71 0.97 0.6665 0.97 0 D . . . . . . 1.000 P . . -5.31 D -0.960 T 0.000 T 0.24 0.977 8.987 2.0 0.149 -0.512 7.375 0.976673 NA NA 0.597674 0.900817 ID=COSN164119;OCCURENCE=1(breast) 0.79 NA 9.2702927 725 19 40408532 40408532 G A exonic FCGBP NA nonsynonymous SNV FCGBP:NM_003890:exon8:c.C4307T:p.P1436L exonic ENSG00000090920 NA nonsynonymous SNV ENSG00000090920:ENST00000221347:exon8:c.C4307T:p.P1436L NA NA 19q13.2 NA NA NA NA rs36106401 0.11 0.11 0.086 0.11222 0.1839 0.0387 0.2003 0.0363 0.1544 0.19 0.03 0.14 0.04 0.1768 0.2 0.63 T 0.61 P 0.055 B . . 1.000 P 1.225 L 2.14 T -0.997 T 0.000 T 0.177 2.242 13.46 4.8 2.240 . 11.069 2.242442 2.242442 NA 0.203488 0.080799 ID=COSM148630;OCCURENCE=1(stomach) 0.174 NA 9.2691454 725 17 67125840 67125840 C T exonic ABCA6 NA nonsynonymous SNV ABCA6:NM_080284:exon7:c.G844A:p.V282I exonic ENSG00000154262 NA nonsynonymous SNV ENSG00000154262:ENST00000284425:exon7:c.G844A:p.V282I NA NA 17q24.3 NA NA NA NA rs4968839 0.54 0.54 0.511 0.555112 0.7107 0.4673 0.7219 0.3313 0.6697 0.7 0.42 0.68 0.34 0.6563 0.7 0.33 T 0.0 B 0.002 B 0.070 N 0.996 P -1.87 N -1.67 D -0.903 T 0.000 T 0.046 -0.26 2.753 2.06 1.048 1.046 1.991 -0.259664 NA 0.35 0.697509 0.406945 NA 0.529 NA 9.2688244 725 2 202122995 202122995 A G exonic CASP8 NA nonsynonymous SNV CASP8:NM_001080125:exon1:c.A41G:p.K14R exonic ENSG00000064012 NA nonsynonymous SNV ENSG00000064012:ENST00000358485:exon1:c.A41G:p.K14R,ENSG00000064012:ENST00000437283:exon1:c.A41G:p.K14R NA NA 2q33.1 NA Name=Oct-2,c-Myc,Max,NFKB,ELF1_(SC-631),GTF2F1_(RAP-74),USF-1,POU2F2,E2F6_(H-50),Pol2(b),Sin3Ak-20,E2F6,IRF4_(M-17),USF1_(SC-8983),Pol2-4H8,ZNF263,Mxi1_(bHLH),Pol2,MEF2C_(SC-13268),STAT3 Name=144 NA rs3769823 0.65 0.65 0.644 0.646366 0.6918 0.6964 0.5922 0.5862 0.6677 0.68 0.68 0.6 0.61 0.6673 0.71 0.97 T 0.008 B 0.015 B 0.000 U 1.000 P . . 4.26 T -0.995 T 0.000 T 0.07 1.628 11.4 2.78 0.875 1.746 6.134 1.627895 1.627895 0.76 0.705882 0.591615 NA 0.58 NA 9.2683514 725 9 138440624 138440624 G C exonic OBP2A NA synonymous SNV OBP2A:NM_014582:exon5:c.G459C:p.S153S exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000340780:exon5:c.G524C:p.R175P NA NA 9q34.3 NA NA NA NA rs3827835 0.17 0.17 0.156 0.155751 0.2515 0.1567 0.1383 0.062 0.1953 0.25 0.15 0.17 0.07 0.2158 0.26 0.39 T 0.0 B 0.0 B . . 1.000 P . . 1.43 T -0.977 T 0.000 T . -0.621 1.241 -4.97 -2.382 -3.579 6.252 -0.621429 NA 0.26 0.264767 0.094644 NA 0.087 NA 9.267933 726 3 136574501 136574501 A G exonic SLC35G2 NA nonsynonymous SNV SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R exonic ENSG00000168917 NA nonsynonymous SNV ENSG00000168917:ENST00000393079:exon2:c.A1199G:p.K400R,ENSG00000168917:ENST00000446465:exon2:c.A1199G:p.K400R Score=737;Name=lod=1316 NA 3q22.3 NA NA NA NA rs1052618 0.72 0.72 0.688 0.712859 0.6561 0.8502 0.7695 0.5983 0.7444 0.65 0.86 0.75 0.63 0.715 0.86 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.895 N 2.15 T -0.980 T 0.000 T 0.033 0.038 4.211 5.79 1.480 5.396 13.854 0.037933 NA 1 0.697558 0.627099 NA 0.565 NA 9.2646754 726 9 35906565 35906565 G A exonic HRCT1 NA nonsynonymous SNV HRCT1:NM_001039792:exon1:c.G281A:p.R94H exonic ENSG00000196196 NA nonsynonymous SNV ENSG00000196196:ENST00000354323:exon1:c.G281A:p.R94H NA NA 9p13.3 NA NA NA NA rs7852213 0.1 0.1 0.102 NA NA NA NA NA NA 0.13 0.02 0.08 0.16 0.031 0.16 0 D 0.0 B 0.0 B . . 1.000 P 0 N . . -1.043 T 0.000 T 0.079 0.599 7.227 -0.589 -0.036 -2.722 3.463 0.59861 NA NA 0.039663 0.120791 NA 0.007 NA 9.2626704 726 19 49377319 49377319 A G exonic PPP1R15A NA nonsynonymous SNV PPP1R15A:NM_014330:exon2:c.A829G:p.K277E exonic ENSG00000087074 NA nonsynonymous SNV ENSG00000087074:ENST00000200453:exon2:c.A829G:p.K277E NA NA 19q13.33 NA Name=Pol2 NA NA rs610308 0.39 0.39 0.418 0.444888 0.3539 0.1141 0.3444 0.8033 0.4663 0.35 0.12 0.35 0.78 0.3678 0.78 1 T 0.0 B 0.0 B 0.008 N 1.000 P -0.345 N 3.45 T -0.986 T 0.000 T 0.015 -0.808 0.655 -3.11 -0.994 -0.530 5.550 -0.808008 NA 1 0.34907 0.747844 NA 0.471 NA 9.2625634 726 11 5602275 5602275 A G exonic OR52B6 NA nonsynonymous SNV OR52B6:NM_001005162:exon1:c.A169G:p.T57A exonic ENSG00000187747 NA nonsynonymous SNV ENSG00000187747:ENST00000345043:exon1:c.A169G:p.T57A NA NA 11p15.4 NA Name=TAL1_(SC-12984) NA NA rs1077126 0.55 0.55 0.542 0.572284 0.331 0.7669 0.5692 0.6362 0.5358 0.34 0.76 0.53 0.63 0.4287 0.76 0.3 T 0.0 B 0.002 B 0.001 N 1.000 P 0.415 N 7.45 T -1.098 T 0.000 T 0.018 -1.03 0.219 3.24 0.774 -0.981 9.284 -1.029841 NA 0.51 0.311915 0.560465 NA 0.384 NA 9.2617184 726 11 123909671 123909671 G A exonic OR10G7 NA nonsynonymous SNV OR10G7:NM_001004463:exon1:c.C38T:p.T13M exonic ENSG00000182634 NA nonsynonymous SNV ENSG00000182634:ENST00000330487:exon1:c.C38T:p.T13M NA NA 11q24.2 NA NA NA NA rs11827843 0.06 0.06 0.057 0.0784744 0.0139 0.0744 0.0288 0.1558 0.0798 0.02 0.09 0.03 0.13 0.0408 0.14 0.2 T 0.003 B 0.003 B 0.791 N 1.000 P 0.27 N 7.46 T -1.066 T 0.000 T 0.035 0.233 5.259 -2.34 -0.569 -1.233 3.522 0.233252 NA 0.32 0.018144 0.143636 NA 0.08 NA 9.2604894 726 2 71351487 71351487 G A exonic MCEE NA nonsynonymous SNV MCEE:NM_032601:exon2:c.C227T:p.A76V exonic ENSG00000124370 NA nonsynonymous SNV ENSG00000124370:ENST00000244217:exon2:c.C227T:p.A76V NA NA 2p13.3 Score=782;Name=V$HEN1_01 NA NA NA rs11541017 0.21 0.21 0.184 0.182508 0.3956 0.0446 0.2695 0.0318 0.2474 0.4 0.05 0.3 0.03 0.3056 0.4 0.47 T 0.015 B 0.003 B 0.690 N 1.000 P 0.325 N 0.01 T -0.972 T 0.000 T 0.027 1.228 9.982 -4.05 -1.116 -0.150 7.096 1.228432 NA 0.13 0.372326 0.081026 ID=COSM1409252;OCCURENCE=1(large_intestine) 0.232 NA 9.2598074 726 2 111598958 111598958 C T exonic ACOXL NA nonsynonymous SNV ACOXL:NM_001142807:exon10:c.C764T:p.T255M exonic ENSG00000153093 NA nonsynonymous SNV ENSG00000153093:ENST00000417074:exon4:c.C278T:p.T93M,ENSG00000153093:ENST00000340561:exon10:c.C764T:p.T255M,ENSG00000153093:ENST00000389811:exon10:c.C764T:p.T255M,ENSG00000153093:ENST00000439055:exon10:c.C764T:p.T255M Score=448;Name=lod=88 NA 2q13 NA NA NA NA rs1554005 0.19 0.19 0.166 0.182907 0.1809 0.1567 0.2349 0.1467 0.2239 0.18 0.15 0.25 0.19 0.2072 0.25 0.08 T 0.672 P 0.298 B 0.028 N 0.988 P 1.785 L -0.63 T -1.199 T 0.001 T 0.208 0.953 8.885 3.38 0.685 0.153 7.550 0.95266 NA 0.18 0.188227 0.160082 NA 0.254 NA 9.2570064 726 18 56204671 56204671 A T exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.T2748A:p.N916K exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.T2748A:p.N916K NA NA 18q21.32 NA Name=Pol2-4H8 Name=3 NA rs4940404 0.43 0.43 0.431 0.404153 0.5726 0.2361 0.4294 0.4312 0.3497 0.57 0.24 0.51 0.38 0.4701 0.57 0.06 T 0.886 P 0.381 B 0.290 N 1.000 P 1.7 L 0.58 T -0.906 T 0.000 T 0.013 3.315 17.15 2.8 0.915 -0.367 5.569 3.31482 3.31482 0 0.533953 0.450295 NA 0.529 NA 9.2566804 726 14 74759477 74759477 C T exonic ABCD4 NA nonsynonymous SNV ABCD4:NM_005050:exon9:c.G910A:p.A304T exonic ENSG00000119688 NA nonsynonymous SNV ENSG00000119688:ENST00000298816:exon7:c.G598A:p.A200T,ENSG00000119688:ENST00000356924:exon9:c.G910A:p.A304T Score=581;Name=lod=307 NA 14q24.3 NA NA NA NA rs4148077 0.27 0.27 0.268 0.270367 0.3857 0.247 0.2723 0.1475 0.3405 0.37 0.24 0.29 0.13 0.3285 0.37 0.79 T 0.003 B 0.003 B 0.001 N 0.000 P 0.72 N -3.47 D -1.059 T 0.000 T 0.329 1.783 11.92 2.14 0.453 0.645 4.363 1.782746 1.782746 0.7 0.363837 0.197458 NA 0.275 NA 9.2552964 727 3 187088812 187088812 C T exonic RTP4 NA nonsynonymous SNV RTP4:NM_022147:exon2:c.C392T:p.T131M exonic ENSG00000136514 NA nonsynonymous SNV ENSG00000136514:ENST00000259030:exon2:c.C392T:p.T131M NA NA 3q27.3 NA NA NA NA rs3821812 0.41 0.41 0.375 0.384385 0.3469 0.7351 0.4942 0.1399 0.3139 0.34 0.69 0.43 0.16 0.3825 0.69 0.26 T 0.23 B 0.031 B 0.000 N 1.000 P -0.55 N 1.94 T -0.984 T 0.000 T 0.053 -0.489 1.751 -7.38 -2.845 -1.461 3.293 -0.489207 NA 0.32 0.35093 0.20699 NA 0.261 NA 9.2530034 727 20 57769140 57769140 G C exonic ZNF831 NA nonsynonymous SNV ZNF831:NM_178457:exon1:c.G3066C:p.L1022F exonic ENSG00000124203 NA nonsynonymous SNV ENSG00000124203:ENST00000371030:exon1:c.G3066C:p.L1022F NA NA 20q13.32 NA NA NA NA rs55786258 0.18 0.18 0.14 0.168331 0.1899 0.2718 0.2378 0.0477 0.1534 0.21 0.21 0.22 0.06 0.2067 0.22 0.04 D 0.523 P 0.073 B 0.001 N 1.000 P 0 N 3.62 T -0.959 T 0.000 T 0.025 1.524 11.05 -2.88 -0.261 . 3.886 1.523625 1.523625 0.3 0.185385 0.061465 NA 0.072 NA 9.2513484 727 7 82582846 82582846 C T exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon5:c.G7423A:p.V2475I,PCLO:NM_033026:exon5:c.G7423A:p.V2475I exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon5:c.G7423A:p.V2475I,ENSG00000186472:ENST00000423517:exon5:c.G7423A:p.V2475I Score=596;Name=lod=354 NA 7q21.11 NA NA NA NA rs10954696 0.33 0.33 0.287 0.320288 0.3608 0.4425 0.389 0.1021 0.3988 0.37 0.44 0.37 0.09 0.3611 0.44 0 D 0.001 B 0.002 B . . 0.001 P 1.5 L 2.37 T -0.948 T 0.000 T 0.016 -0.97 0.307 2.62 0.847 -0.776 8.800 -0.97032 NA 0.13 0.361279 0.137084 NA 0.254 NA 9.2501544 727 19 9066259 9066259 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A21187G:p.T7063A exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A21187G:p.T7063A NA NA 19p13.2 NA NA NA NA rs17000770 0.34 0.34 0.336 0.351038 0.3489 0.2768 0.3746 0.388 0.363 0.36 0.3 0.37 0.34 0.3639 0.47 0 D 0.673 P 0.533 P . . . . 1.24 L 1.75 T -0.927 T 0.000 T 0.029 0.136 4.731 -0.117 -0.128 1.613 5.386 0.136008 NA 0.08 0.370836 0.36814 ID=COSM1129649,COSM1129651,COSM1129650;OCCURENCE=1(prostate) 0.333 NA 9.2496974 727 10 26355992 26355992 A G exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon11:c.A1042G:p.I348V exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000543632:exon10:c.A1042G:p.I348V,ENSG00000095777:ENST00000265944:exon11:c.A1042G:p.I348V Score=539;Name=lod=206 NA 10p12.1 NA NA NA NA rs3824699 0.67 0.67 0.654 0.66274 0.7217 0.6181 0.6311 0.6929 0.6299 0.72 0.62 0.62 0.67 0.6786 0.72 1 T 0.0 B 0.001 B 0.019 N 0.721 P -1.59 N -0.53 T -0.922 T 0.000 T 0.065 -0.914 0.41 2.73 0.067 2.019 9.617 -0.91367 NA 1 0.683837 0.679982 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039019.1;CLNDSDB=.;CLNDSDBID=. 9.2491964 727 3 196435534 196435534 T C exonic CEP19 NA nonsynonymous SNV CEP19:NM_032898:exon2:c.A7G:p.M3V exonic ENSG00000174007 NA nonsynonymous SNV ENSG00000174007:ENST00000409690:exon2:c.A7G:p.M3V NA NA 3q29 NA Name=GATA3_(SC-268),STAT3,AP-2alpha,GTF2F1_(RAP-74),CEBPB,p300_(N-15),BAF170,AP-2gamma Name=38 NA rs6776064 0.43 0.43 0.409 0.438099 0.3459 0.5952 0.3184 0.4319 0.4642 0.36 0.61 0.32 0.44 0.3851 0.61 0.97 T . . . . . . 1.000 P . . . . -0.935 T 0.000 T 0.002 -2.166 0.005 2.89 0.535 -0.082 7.318 -2.165644 NA 1 0.354297 0.394997 NA 0.522 NA 9.2480364 727 14 20876189 20876189 G A exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon2:c.C410T:p.T137M exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000262715:exon2:c.C410T:p.T137M,ENSG00000129566:ENST00000555727:exon2:c.C410T:p.T137M,ENSG00000129566:ENST00000556549:exon2:c.C410T:p.T137M,ENSG00000129566:ENST00000556935:exon2:c.C410T:p.T137M NA NA 14q11.2 NA NA NA NA rs10083536 0.03 0.03 0.038 0.0315495 0.0268 NA 0.0159 0.0802 0.0143 0.03 NA 0.01 0.09 0.0283 0.09 0.13 T 0.0 B 0.0 B 0.029 N 1.000 N -0.345 N 1.46 T -1.062 T 0.003 T 0.059 0.96 8.918 -8.33 -1.108 -0.671 9.306 0.96042 NA 0.09 0.030233 0.070813 NA 0.014 NA 9.2480004 727 22 23541488 23541488 C T intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA Name=36 NA rs2071436 0.25 0.25 0.224 0.226438 0.2356 0.3581 0.3429 0.0809 0.1953 0.25 0.38 0.27 0.09 0.263 0.38 0.02 D . . . . . . 1.000 P . . . . -1.021 T 0.000 T . -0.115 3.437 -6.14 -2.747 -1.992 8.577 -0.114821 NA 0 0.254897 0.121005 NA 0.203 NA 9.246503 728 22 46763671 46763671 A G exonic CELSR1 NA synonymous SNV CELSR1:NM_014246:exon28:c.T8034C:p.D2678D exonic ENSG00000075275 NA synonymous SNV ENSG00000075275:ENST00000262738:exon28:c.T8034C:p.D2678D Score=405;Name=lod=59 NA 22q13.31 Score=756;Name=V$PAX6_01 Name=GABP,Znf143_(16618-1-AP),YY1_(C-20),IRF4_(M-17),SMC3_(ab9263),Rad21,CTCF,JunD,CTCF_(SC-5916),PAX5-C20,CTCF_(C-20),ZEB1_(SC-25388),TCF12 Name=103 NA rs7285515 0.21 0.21 0.211 0.224042 0.1292 0.002 0.1167 0.6664 0.0286 0.11 0.0017 0.13 0.65 0.171 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519552 NA NA 0.122034 0.578061 NA 0.268 NA 9.2444326 728 3 137787041 137787041 C T exonic DZIP1L NA nonsynonymous SNV DZIP1L:NM_173543:exon13:c.G1784A:p.G595E exonic ENSG00000158163 NA nonsynonymous SNV ENSG00000158163:ENST00000327532:exon13:c.G1784A:p.G595E NA NA 3q22.3 Score=802;Name=V$OLF1_01 NA NA NA rs115489792 0.01 0.01 0.007 0.00998403 0.0308 NA 0.0202 0.0008 0.0041 0.03 NA 0.02 0.002 0.0239 0.034 0.34 T 0.002 B 0.004 B 0.083 N 1.000 N 0 N 1.2 T -1.043 T 0.014 T 0.041 1.222 9.958 2.03 0.623 0.308 7.079 1.222121 NA 0.16 0.034302 0.00749 NA NA NA 9.2443314 728 2 175263063 175263063 G A exonic SCRN3 NA nonsynonymous SNV SCRN3:NM_024583:exon2:c.G52A:p.D18N exonic ENSG00000144306 NA nonsynonymous SNV ENSG00000144306:ENST00000548031:exon1:c.G52A:p.D18N,ENSG00000144306:ENST00000272732:exon2:c.G52A:p.D18N,ENSG00000144306:ENST00000424069:exon2:c.G52A:p.D18N,ENSG00000144306:ENST00000427038:exon2:c.G52A:p.D18N,ENSG00000144306:ENST00000437944:exon2:c.G52A:p.D18N,ENSG00000144306:ENST00000548868:exon2:c.G52A:p.D18N,ENSG00000144306:ENST00000458563:exon3:c.G52A:p.D18N NA NA 2q31.1 NA NA NA NA rs10497410 0.1 0.1 0.086 0.0850639 0.2127 0.006 0.1556 0.0121 0.0838 0.21 0.01 0.17 0.01 0.1508 0.23 0.69 T 0.545 P 0.094 B 0.008 N 0.000 P 1.085 L 3.01 T -1.003 T 0.000 T 0.085 1.687 11.6 4.25 0.881 6.412 12.073 1.68675 1.68675 0.61 0.226512 0.046074 NA 0.116 NA 9.2433214 728 14 73989816 73989816 C T exonic HEATR4 NA nonsynonymous SNV HEATR4:NM_203309:exon2:c.G41A:p.C14Y,HEATR4:NM_001220484:exon3:c.G41A:p.C14Y exonic ENSG00000187105 NA nonsynonymous SNV ENSG00000187105:ENST00000334988:exon2:c.G41A:p.C14Y,ENSG00000187105:ENST00000556455:exon2:c.G41A:p.C14Y,ENSG00000187105:ENST00000553558:exon3:c.G41A:p.C14Y,ENSG00000187105:ENST00000557603:exon3:c.G41A:p.C14Y,ENSG00000187105:ENST00000563329:exon4:c.G41A:p.C14Y NA NA 14q24.3 NA NA NA NA rs28552441 0.03 0.03 0.028 0.0335463 0.0487 0.002 0.0375 0.0575 0.0153 0.04 NA 0.05 0.05 0.0414 0.054 . . . . . . . . 1.000 N 0.695 N 1.88 T -0.999 T 0.005 T 0.102 0.062 4.337 -5.36 -0.779 -3.076 2.155 0.062005 NA NA NA NA NA 0.036 NA 9.2432334 728 18 5416221 5416221 C T exonic EPB41L3 NA nonsynonymous SNV EPB41L3:NM_012307:exon13:c.G1663A:p.A555T exonic ENSG00000082397 NA nonsynonymous SNV ENSG00000082397:ENST00000341928:exon13:c.G1663A:p.A555T,ENSG00000082397:ENST00000342933:exon13:c.G1663A:p.A555T NA NA 18p11.31 NA NA NA NA rs9966357 0.05 0.05 0.055 0.0503195 0.0268 NA 0.0187 0.121 0.0532 0.03 NA 0.02 0.15 0.0328 0.15 0.59 T 0.0 B 0.0 B . . 1.000 P 0 N -1.37 T -1.096 T 0.001 T 0.017 -1.93 0.008 -11.1 -4.798 -2.647 6.690 -1.93012 NA NA 0.031279 0.106673 NA 0.051 NA 9.2424544 728 5 7878192 7878192 T C exonic MTRR NA synonymous SNV MTRR:NM_002454:exon5:c.T537C:p.L179L,MTRR:NM_024010:exon5:c.T618C:p.L206L exonic ENSG00000124275 NA synonymous SNV ENSG00000124275:ENST00000264668:exon5:c.T618C:p.L206L,ENSG00000124275:ENST00000440940:exon5:c.T537C:p.L179L NA NA 5p15.31 NA NA Name=46 NA rs161870 0.23 0.23 0.224 0.252995 0.1352 0.1696 0.3516 0.4357 0.1431 0.12 0.18 0.31 0.39 0.1711 0.39 . . . . . . . . 1.000 P . . . . -0.992 T 0.000 T . 0.292 5.58 -10.9 -2.045 -3.799 2.513 0.291749 NA NA 0.118372 0.377667 NA 0.341 NA 9.2419946 728 11 5862937 5862937 C A exonic OR52E6 NA nonsynonymous SNV OR52E6:NM_001005167:exon1:c.G191T:p.C64F exonic ENSG00000205409 NA nonsynonymous SNV ENSG00000205409:ENST00000329322:exon1:c.G191T:p.C64F,ENSG00000205409:ENST00000379946:exon2:c.G203T:p.C68F Score=387;Name=lod=50 NA 11p15.4 NA NA NA NA rs4495918 0.4 0.4 0.391 0.384185 0.3728 0.4593 0.3184 0.379 0.3722 0.39 0.46 0.33 0.41 0.3692 0.46 1 T 0.0 B 0.0 B 0.001 N 0.000 P -3.875 N 5.7 T -0.985 T 0.000 T 0.079 -2.527 0.003 3.64 0.475 4.740 9.114 -2.527363 NA 1 0.350093 0.368015 NA 0.406 NA 9.2412404 728 11 5862653 5862653 T C exonic OR52E6 NA nonsynonymous SNV OR52E6:NM_001005167:exon1:c.A475G:p.I159V exonic ENSG00000205409 NA nonsynonymous SNV ENSG00000205409:ENST00000329322:exon1:c.A475G:p.I159V,ENSG00000205409:ENST00000379946:exon2:c.A487G:p.I163V NA NA 11p15.4 NA NA NA NA rs4357719 0.4 0.4 0.408 0.384185 0.3728 0.4593 0.3184 0.3782 0.3732 0.39 0.46 0.33 0.41 0.3693 0.46 0.27 T 0.0 B 0.002 B 0.103 N 1.000 P 0.49 N 1.19 T -1.020 T 0.000 T 0.009 -1.652 0.012 -6.91 -3.731 -12.782 0.801 -1.651578 NA 0.37 0.350209 0.366879 NA 0.406 NA 9.2410244 728 1 228559430 228559430 G A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon94:c.G20951A:p.R6984Q,OBSCN:NM_001271223:exon105:c.G23822A:p.R7941Q exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000422127:exon94:c.G20951A:p.R6984Q,ENSG00000154358:ENST00000366707:exon100:c.G13853A:p.R4618Q,ENSG00000154358:ENST00000570156:exon105:c.G23822A:p.R7941Q NA NA 1q42.13 NA Name=ZNF263 NA NA rs41305136 0.02 0.02 0.012 0.0217652 0.0298 NA 0.0159 0.0008 0.0685 0.03 0.0035 0.02 0.002 0.0317 0.031 0.61 T 0.0 B 0.0 B . . 1.000 N 0 N 0.07 T -1.057 T 0.028 T 0.254 2.722 15.06 -3.53 -0.556 -0.312 2.442 2.7217 2.7217 0.36 0.030851 0.005238 NA NA NA 9.2409824 728 11 5862984 5862984 G C exonic OR52E6 NA nonsynonymous SNV OR52E6:NM_001005167:exon1:c.C144G:p.F48L exonic ENSG00000205409 NA nonsynonymous SNV ENSG00000205409:ENST00000329322:exon1:c.C144G:p.F48L,ENSG00000205409:ENST00000379946:exon2:c.C156G:p.F52L NA NA 11p15.4 NA NA NA NA rs10769272 0.4 0.4 0.404 0.384185 0.3728 0.4593 0.3184 0.379 0.3722 0.39 0.46 0.33 0.41 0.3696 0.46 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.74 N 8.17 T -0.988 T 0.000 T 0.032 -1.558 0.015 -7.27 -1.655 -7.918 4.005 -1.558484 NA 1 0.350326 0.368015 ID=COSM1127733;OCCURENCE=1(prostate) 0.406 NA 9.2406074 728 11 5863013 5863013 T C exonic OR52E6 NA nonsynonymous SNV OR52E6:NM_001005167:exon1:c.A115G:p.I39V exonic ENSG00000205409 NA nonsynonymous SNV ENSG00000205409:ENST00000329322:exon1:c.A115G:p.I39V,ENSG00000205409:ENST00000379946:exon2:c.A127G:p.I43V NA NA 11p15.4 NA NA NA NA rs4362173 0.4 0.4 0.404 0.384185 0.3728 0.4593 0.3184 0.379 0.3722 0.39 0.46 0.33 0.41 0.3699 0.46 1 T 0.0 B 0.001 B 0.384 N 1.000 P 0.235 N 8.43 T -1.020 T 0.000 T 0.014 -2.612 0 -3.21 -0.999 -5.184 7.592 -2.611809 NA 1 0.350442 0.369318 NA 0.406 NA 9.2401914 728 18 33718326 33718326 A C exonic ELP2 NA nonsynonymous SNV ELP2:NM_001242875:exon4:c.A382C:p.T128P,ELP2:NM_001242876:exon4:c.A382C:p.T128P,ELP2:NM_001242877:exon4:c.A382C:p.T128P,ELP2:NM_001242878:exon4:c.A382C:p.T128P,ELP2:NM_001242879:exon4:c.A382C:p.T128P,ELP2:NM_018255:exon4:c.A382C:p.T128P exonic ENSG00000134759 NA nonsynonymous SNV ENSG00000134759:ENST00000350494:exon4:c.A382C:p.T128P,ENSG00000134759:ENST00000351393:exon4:c.A382C:p.T128P,ENSG00000134759:ENST00000358232:exon4:c.A382C:p.T128P,ENSG00000134759:ENST00000423854:exon4:c.A382C:p.T128P,ENSG00000134759:ENST00000442325:exon4:c.A382C:p.T128P,ENSG00000134759:ENST00000539560:exon4:c.A382C:p.T128P,ENSG00000134759:ENST00000542824:exon4:c.A382C:p.T128P Score=383;Name=lod=48 NA 18q12.2 NA NA NA NA rs1785934 0.35 0.35 0.354 0.320487 0.3797 0.2024 0.3847 0.382 0.2526 0.4 0.19 0.43 0.39 0.3427 0.43 0.28 T 0.011 B 0.02 B 0.015 N 1.000 P 0.98 L 2.17 T -0.949 T 0.000 T 0.16 0.683 7.649 3.49 1.017 0.654 4.858 0.68253 NA 0.12 0.371279 0.366319 NA 0.326 NA 9.2396544 728 19 35719106 35719106 A G exonic FAM187B NA nonsynonymous SNV FAM187B:NM_152481:exon1:c.T478C:p.C160R exonic ENSG00000177558 NA nonsynonymous SNV ENSG00000177558:ENST00000324675:exon1:c.T478C:p.C160R Score=340;Name=lod=32 NA 19q13.12 NA NA NA NA rs565791 0.5 0.5 0.465 0.499601 0.7177 0.1915 0.611 0.4266 0.6125 0.71 0.18 0.64 0.43 0.6431 0.73 1 T 0.0 B 0.0 B 0.000 N 0.215 P -2.045 N 2.41 T -0.970 T 0.000 T 0.078 -1.466 0.019 5.07 1.280 2.272 10.065 -1.466188 NA 1 0.733488 0.461189 NA 0.529 NA 9.2390454 728 9 117051020 117051020 A G exonic COL27A1 NA synonymous SNV COL27A1:NM_032888:exon43:c.A4083G:p.G1361G exonic ENSG00000196739 NA synonymous SNV ENSG00000196739:ENST00000356083:exon43:c.A4083G:p.G1361G Score=443;Name=lod=84 NA 9q32 Score=845;Name=V$RFX1_01 Name=CTCF Name=10 NA rs1687410 0.23 0.23 0.223 0.234225 0.1372 0.2827 0.1988 0.3631 0.135 0.13 0.28 0.21 0.33 0.158 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649445 NA NA 0.132791 0.326827 NA 0.167 NA 9.2386756 728 17 2203025 2203025 T G exonic SMG6 NA nonsynonymous SNV SMG6:NM_017575:exon2:c.A1022C:p.N341T exonic ENSG00000070366 NA nonsynonymous SNV ENSG00000070366:ENST00000263073:exon2:c.A1022C:p.N341T,ENSG00000070366:ENST00000544865:exon2:c.A929C:p.N310T Score=431;Name=lod=75 NA 17p13.3 NA NA NA NA rs1885987 0.26 0.26 0.219 0.229433 0.3827 0.1716 0.438 0.0469 0.2301 0.37 0.17 0.45 0.06 0.3254 0.45 0.41 T 0.001 B 0.004 B 0.743 N 0.000 P 0 N 3.15 T -0.939 T 0.000 T 0.095 0.92 8.744 2.3 0.252 3.302 10.136 0.919722 NA 0 0.386628 0.093963 NA 0.246 NA 9.2386054 728 11 12315915 12315915 A G exonic MICALCL NA nonsynonymous SNV MICALCL:NM_032867:exon3:c.A937G:p.S313G exonic ENSG00000133808 NA nonsynonymous SNV ENSG00000133808:ENST00000256186:exon3:c.A937G:p.S313G NA NA 11p15.3 NA NA NA NA rs1493954 0.49 0.49 0.489 0.53095 0.3429 0.6786 0.4755 0.618 0.4939 0.34 0.67 0.43 0.58 0.416 0.67 0.4 T 0.076 B 0.029 B 0.006 N 1.000 P 1.445 L 1.17 T -0.979 T 0.000 T 0.063 1.101 9.494 5.41 2.049 3.504 11.819 1.101419 NA 0.09 0.335871 0.545059 NA 0.464 NA 9.2385624 728 5 35084647 35084647 T C exonic PRLR NA nonsynonymous SNV PRLR:NM_001204315:exon4:c.A298G:p.I100V,PRLR:NM_001204316:exon4:c.A298G:p.I100V,PRLR:NM_001204317:exon4:c.A298G:p.I100V,PRLR:NM_001204318:exon4:c.A298G:p.I100V,PRLR:NM_000949:exon5:c.A298G:p.I100V exonic ENSG00000113494 NA nonsynonymous SNV ENSG00000113494:ENST00000397391:exon2:c.A85G:p.I29V,ENSG00000113494:ENST00000231423:exon3:c.A298G:p.I100V,ENSG00000113494:ENST00000310101:exon3:c.A298G:p.I100V,ENSG00000113494:ENST00000348262:exon3:c.A298G:p.I100V,ENSG00000113494:ENST00000513753:exon3:c.A298G:p.I100V,ENSG00000113494:ENST00000542609:exon3:c.A298G:p.I100V,ENSG00000113494:ENST00000382002:exon5:c.A298G:p.I100V,ENSG00000113494:ENST00000503330:exon5:c.A298G:p.I100V,ENSG00000113494:ENST00000509839:exon5:c.A298G:p.I100V,ENSG00000113494:ENST00000514206:exon5:c.A298G:p.I100V Score=343;Name=lod=33 NA 5p13.2 NA NA NA NA rs2228482 0.05 0.05 0.064 0.0714856 0.0229 0.0327 0.0461 0.1392 0.0879 0.02 0.04 0.04 0.13 0.0434 0.13 0.51 T 0.007 B 0.013 B 0.000 N 0.000 P 0.98 L 1.6 T -1.024 T 0.005 T 0.142 -0.385 2.194 3.4 0.473 0.201 5.789 -0.384548 NA 0.51 0.02907 0.124376 NA 0.051 NA 9.2379634 728 1 36636854 36636854 G A exonic MAP7D1 NA nonsynonymous SNV MAP7D1:NM_018067:exon2:c.G329A:p.R110Q exonic ENSG00000116871 NA nonsynonymous SNV ENSG00000116871:ENST00000316156:exon2:c.G329A:p.R110Q,ENSG00000116871:ENST00000373150:exon2:c.G329A:p.R110Q,ENSG00000116871:ENST00000373151:exon2:c.G329A:p.R110Q,ENSG00000116871:ENST00000429533:exon2:c.G212A:p.R71Q,ENSG00000116871:ENST00000530729:exon2:c.G212A:p.R71Q Score=467;Name=lod=105 NA 1p34.3 NA NA NA NA rs112601844 0.02 0.02 0.009 0.0115815 0.0318 NA 0.0173 0.0015 0.0123 0.03 NA 0.02 0.002 0.0279 0.038 0.26 T 0.342 B 0.016 B 0.599 N 1.000 D 1.1 L 3.53 T -0.894 T 0.003 T 0.147 2.265 13.53 1.99 0.711 0.146 5.287 2.265438 2.265438 0.09 0.037907 0.010213 NA 0.014 NA 9.2357264 729 1 44595410 44595410 A G exonic KLF17 NA nonsynonymous SNV KLF17:NM_173484:exon2:c.A467G:p.N156S exonic ENSG00000171872 NA nonsynonymous SNV ENSG00000171872:ENST00000372299:exon2:c.A467G:p.N156S NA NA 1p34.1 NA NA NA NA rs2485652 0.32 0.32 0.301 0.275559 0.3966 0.4236 0.2594 0.0915 0.2587 0.38 0.44 0.3 0.1 0.3305 0.44 0.94 T 0.0 B 0.0 B 0.163 N 1.000 P -0.46 N 3.17 T -0.946 T 0.000 T 0.007 -1.363 0.027 -9.27 -2.352 -2.032 8.585 -1.362961 NA 0.89 0.372558 0.144349 NA 0.29 NA 9.2336754 729 19 11979305 11979305 C G exonic ZNF439 NA nonsynonymous SNV ZNF439:NM_152262:exon3:c.C1421G:p.A474G exonic ENSG00000171291 NA nonsynonymous SNV ENSG00000171291:ENST00000304030:exon3:c.C1421G:p.A474G,ENSG00000171291:ENST00000455282:exon3:c.C1013G:p.A338G Score=343;Name=lod=33 NA 19p13.2 NA Name=KAP1,SETDB1 NA NA rs72994214 0.04 0.04 0.026 0.0323482 0.0388 0.0734 0.0288 0.0023 0.0266 0.03 0.08 0.04 0.01 0.0296 0.08 0.06 T 0.039 B 0.094 B . . 0.994 P 0.14 N 1.22 T -1.046 T 0.003 T 0.037 0.744 7.948 0.749 0.716 0.180 6.108 0.744179 NA 0.07 0.031395 0.007036 NA 0.007 NA 9.2335384 729 1 247752019 247752019 G C exonic OR2G2 NA nonsynonymous SNV OR2G2:NM_001001915:exon1:c.G358C:p.V120L exonic ENSG00000177489 NA nonsynonymous SNV ENSG00000177489:ENST00000320065:exon1:c.G358C:p.V120L NA NA 1q44 NA NA NA NA rs1151687 0.61 0.61 0.554 0.579473 0.7147 0.7599 0.6686 0.1641 0.7526 0.73 0.77 0.69 0.17 0.6779 0.77 0.01 D 0.112 B 0.082 B 0.007 U 1.000 P 1.98 M 3.49 T -1.090 T 0.000 T 0.254 2.254 13.5 3.37 1.008 0.628 9.752 2.254468 2.254468 0.01 0.70814 0.251248 ID=COSM1178405;OCCURENCE=1(prostate),1(meninges) 0.63 NA 9.2325934 729 22 37637653 37637653 G C exonic RAC2 NA synonymous SNV RAC2:NM_002872:exon2:c.C81G:p.A27A exonic ENSG00000128340 NA synonymous SNV ENSG00000128340:ENST00000249071:exon2:c.C81G:p.A27A,ENSG00000128340:ENST00000401529:exon2:c.C81G:p.A27A,ENSG00000128340:ENST00000405484:exon2:c.C60G:p.A20A,ENSG00000128340:ENST00000441619:exon3:c.C81G:p.A27A Score=546;Name=lod=220 NA 22q13.1 Score=797;Name=V$OLF1_01 Name=Pol2,PU.1,ELF1_(SC-631) Name=21 NA rs2239774 0.17 0.17 0.156 0.189696 0.1372 0.2788 0.0994 0.2035 0.1973 0.13 0.22 0.12 0.21 0.1547 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364076 NA NA 0.142442 0.183613 NA 0.152 NA 9.2323246 729 1 207790088 207790088 C G exonic CR1 NA nonsynonymous SNV CR1:NM_000573:exon33:c.C5480G:p.P1827R,CR1:NM_000651:exon41:c.C6830G:p.P2277R exonic ENSG00000203710 NA nonsynonymous SNV ENSG00000203710:ENST00000367051:exon33:c.C5480G:p.P1827R,ENSG00000203710:ENST00000367052:exon33:c.C5480G:p.P1827R,ENSG00000203710:ENST00000367053:exon33:c.C5480G:p.P1827R,ENSG00000203710:ENST00000400960:exon33:c.C5480G:p.P1827R,ENSG00000203710:ENST00000367049:exon41:c.C6830G:p.P2277R NA NA 1q32.2 NA NA NA NA rs3811381 0.2 0.2 0.157 0.26278 0.1809 0.3224 0.2608 0.1172 0.4836 0.17 0.23 0.28 0.13 0.2403 0.28 0.64 T 0.643 P 0.142 B . . 1.000 P -0.115 N 2.0 T -0.960 T 0.000 T 0.449 -1.746 0.01 -5.58 -1.266 -0.775 3.197 -1.745772 NA 0.34 0.182346 0.127301 NA 0.181 NA 9.2297874 729 5 54410099 54410099 G A exonic CDC20B NA nonsynonymous SNV CDC20B:NM_001145734:exon11:c.C1381T:p.R461W,CDC20B:NM_001170402:exon12:c.C1507T:p.R503W,CDC20B:NM_152623:exon12:c.C1495T:p.R499W exonic ENSG00000164287 NA nonsynonymous SNV ENSG00000164287:ENST00000322374:exon11:c.C1381T:p.R461W,ENSG00000164287:ENST00000296733:exon12:c.C1495T:p.R499W,ENSG00000164287:ENST00000381375:exon12:c.C1507T:p.R503W NA NA 5q11.2 NA NA NA NA rs444527 0.16 0.16 0.132 0.169529 0.2127 0.1865 0.147 0.0401 0.2986 0.22 0.16 0.16 0.05 0.2011 0.22 0.01 D 0.995 D 0.84 P 0.286 N 1.000 P 0.815 L 0.18 T -1.091 T 0.000 T 0.202 2.897 15.65 1.7 0.876 0.257 4.240 2.897041 2.897041 0.2 0.19093 0.06128 ID=COSM149836;OCCURENCE=1(stomach) 0.087 NA 9.2286034 729 1 201860626 201860626 A G exonic SHISA4 NA nonsynonymous SNV SHISA4:NM_198149:exon4:c.A477G:p.I159M exonic ENSG00000198892 NA nonsynonymous SNV ENSG00000198892:ENST00000362011:exon4:c.A477G:p.I159M Score=551;Name=lod=232 NA 1q32.1 NA NA NA NA rs2250377 0.76 0.76 0.745 0.784345 0.6988 0.8978 0.7767 0.8041 0.7342 0.68 0.89 0.75 0.74 0.7233 0.89 0.41 T 0.0 B 0.0 B 0.009 N 1.000 P 0 N 0.97 T -1.021 T 0.000 T 0.087 0.805 8.231 5.46 1.314 1.845 12.278 0.804709 NA 0.14 0.682791 0.787789 NA 0.841 NA 9.2284424 729 19 37487866 37487866 A T exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204839:exon9:c.A1081T:p.S361C,ZNF568:NM_001204838:exon10:c.A1273T:p.S425C exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000433993:exon5:c.A877T:p.S293C,ENSG00000198453:ENST00000455427:exon9:c.A1081T:p.S361C,ENSG00000198453:ENST00000444991:exon10:c.A1273T:p.S425C Score=259;Name=lod=15 NA 19q13.12 NA NA NA NA rs1667363 0.47 0.47 0.45 0.497005 0.5119 0.25 0.5346 0.6006 0.5695 0.52 0.26 0.52 0.61 0.5939 0.61 1 T 0.0 B 0.0 B . . 0.000 P -3.805 N 3.89 T -0.956 T 0.000 T 0.238 -0.083 3.594 3.74 0.615 4.576 7.920 -0.082997 NA 1 NA NA NA 0.493 NA 9.2275334 729 11 59132798 59132798 G C exonic OR5AN1 NA nonsynonymous SNV OR5AN1:NM_001004729:exon1:c.G867C:p.L289F exonic ENSG00000176495 NA nonsynonymous SNV ENSG00000176495:ENST00000313940:exon1:c.G867C:p.L289F NA NA 11q12.1 NA NA NA NA rs7941190 0.66 0.66 0.639 0.673323 0.7227 0.744 0.7363 0.5061 0.7311 0.71 0.7 0.71 0.52 0.688 0.71 0.03 D 1.0 D 0.999 D 0.002 N 0.993 P 2.055 M 1.11 T -0.933 T 0.000 T 0.11 2.568 14.55 1.4 0.184 0.022 4.616 2.568337 2.568337 0.02 0.695111 0.531577 NA 0.703 NA 9.2275224 729 17 56276940 56276940 A C exonic EPX NA nonsynonymous SNV EPX:NM_000502:exon9:c.A1322C:p.K441T exonic ENSG00000121053 NA nonsynonymous SNV ENSG00000121053:ENST00000225371:exon9:c.A1322C:p.K441T NA NA 17q22 Score=747;Name=V$MYOGNF1_01 NA NA NA rs35750729 0.07 0.07 0.064 0.0676917 0.0318 0.0069 0.036 0.2005 0.0102 0.03 0.01 0.05 0.2 0.0431 0.2 0.22 T 0.259 B 0.165 B 0.648 N 1.000 P 1.36 L -0.3 T -1.056 T 0.000 T 0.085 2.199 13.31 -5.8 -0.719 0.003 8.410 2.199187 2.199187 0.44 0.031047 0.167272 NA 0.08 NA 9.2273864 729 1 181702616 181702616 G A exonic CACNA1E NA nonsynonymous SNV CACNA1E:NM_001205294:exon20:c.G2935A:p.G979S,CACNA1E:NM_000721:exon21:c.G2992A:p.G998S,CACNA1E:NM_001205293:exon21:c.G2992A:p.G998S exonic ENSG00000198216 NA nonsynonymous SNV ENSG00000198216:ENST00000358338:exon20:c.G2788A:p.G930S,ENSG00000198216:ENST00000360108:exon20:c.G2935A:p.G979S,ENSG00000198216:ENST00000526775:exon20:c.G2935A:p.G979S,ENSG00000198216:ENST00000357570:exon21:c.G2845A:p.G949S,ENSG00000198216:ENST00000367567:exon21:c.G1813A:p.G605S,ENSG00000198216:ENST00000367570:exon21:c.G2992A:p.G998S,ENSG00000198216:ENST00000367573:exon21:c.G2992A:p.G998S NA NA 1q25.3 NA NA NA NA rs41304253 0.02 0.02 0.016 0.0161741 0.0338 NA 0.0403 0.0023 0.0164 0.03 NA 0.05 0.0041 0.0293 0.05 1 T 0.0 B 0.001 B 0.032 N 1.000 N 0 N -3.78 D -0.249 T 0.202 T 0.044 0.949 8.868 1.61 0.966 0.515 1.751 0.948678 NA 0.82 0.044618 0.010233 NA 0.007 NA 9.2256154 730 19 37487873 37487873 C A exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204839:exon9:c.C1088A:p.A363E,ZNF568:NM_001204838:exon10:c.C1280A:p.A427E exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000433993:exon5:c.C884A:p.A295E,ENSG00000198453:ENST00000455427:exon9:c.C1088A:p.A363E,ENSG00000198453:ENST00000444991:exon10:c.C1280A:p.A427E NA NA 19q13.12 Score=829;Name=V$CEBP_C NA NA NA rs1667364 0.47 0.47 0.461 0.497005 0.5119 0.25 0.5346 0.6014 0.5685 0.52 0.26 0.52 0.62 0.5966 0.62 1 T 0.0 B 0.0 B . . 1.000 P -1.995 N 1.24 T -0.917 T 0.000 T 0.137 -1.256 0.049 3.74 0.615 3.278 8.737 -1.255646 NA 1 NA NA NA 0.493 NA 9.2248334 730 1 160124875 160124875 G A exonic ATP1A4 NA nonsynonymous SNV ATP1A4:NM_144699:exon3:c.G248A:p.G83D exonic ENSG00000132681 NA nonsynonymous SNV ENSG00000132681:ENST00000368081:exon3:c.G248A:p.G83D,ENSG00000132681:ENST00000477338:exon3:c.G248A:p.G83D Score=405;Name=lod=59 NA 1q23.2 NA Name=PU.1 NA NA rs6427504 0.71 0.71 0.716 0.693091 0.6958 0.6835 0.7104 0.7458 0.6166 0.68 0.68 0.7 0.77 0.6977 0.77 1 T 0.0 B 0.0 B 0.181 N 0.000 P -2.97 N -1.09 T -1.035 T 0.022 T 0.045 -0.969 0.309 4.48 0.754 6.088 8.284 -0.968965 NA 1 0.715349 0.750113 NA 0.688 NA 9.2244844 730 19 6156483 6156483 T C exonic ACSBG2 NA nonsynonymous SNV ACSBG2:NM_030924:exon5:c.T428C:p.V143A exonic ENSG00000130377 NA nonsynonymous SNV ENSG00000130377:ENST00000587227:exon1:c.T23C:p.V8A,ENSG00000130377:ENST00000252669:exon5:c.T428C:p.V143A,ENSG00000130377:ENST00000586696:exon5:c.T428C:p.V143A,ENSG00000130377:ENST00000588304:exon5:c.T278C:p.V93A,ENSG00000130377:ENST00000591403:exon5:c.T428C:p.V143A Score=336;Name=lod=31 NA 19p13.3 NA NA NA NA rs4807840 0.73 0.73 0.714 0.712061 0.7127 0.7153 0.7478 0.7337 0.6534 0.72 0.73 0.75 0.75 0.7088 0.75 1 T 0.0 B 0.0 B 0.001 N 0.000 P -3.505 N 1.19 T -0.928 T 0.000 T 0.043 0.009 4.063 5.9 1.511 5.346 13.144 0.009457 NA 1 0.68814 0.723332 NA 0.717 NA 9.2236934 730 9 117792583 117792583 C G exonic TNC NA nonsynonymous SNV TNC:NM_002160:exon24:c.G6022C:p.E2008Q exonic ENSG00000041982 NA nonsynonymous SNV ENSG00000041982:ENST00000537320:exon16:c.G4111C:p.E1371Q,ENSG00000041982:ENST00000345230:exon17:c.G4111C:p.E1371Q,ENSG00000041982:ENST00000346706:exon18:c.G4384C:p.E1462Q,ENSG00000041982:ENST00000535648:exon19:c.G4657C:p.E1553Q,ENSG00000041982:ENST00000542877:exon19:c.G4933C:p.E1645Q,ENSG00000041982:ENST00000340094:exon20:c.G4930C:p.E1644Q,ENSG00000041982:ENST00000341037:exon21:c.G5476C:p.E1826Q,ENSG00000041982:ENST00000423613:exon21:c.G5203C:p.E1735Q,ENSG00000041982:ENST00000350763:exon24:c.G6022C:p.E2008Q Score=381;Name=lod=47 NA 9q33.1 NA NA NA NA rs13321 0.67 0.67 0.696 0.668131 0.7207 0.5625 0.6772 0.7337 0.6278 0.75 0.54 0.65 0.73 0.6857 0.75 1 T 0.043 B 0.048 B 0.000 N 0.938 P -0.375 N -1.05 T -1.062 T 0.000 T 0.177 0.065 4.353 5.35 1.405 6.277 16.561 0.06508 NA 1 0.704767 0.734907 NA 0.667 NA 9.2221664 730 19 40360928 40360928 G A exonic FCGBP NA synonymous SNV FCGBP:NM_003890:exon33:c.C15480T:p.R5160R exonic ENSG00000090920 NA synonymous SNV ENSG00000090920:ENST00000221347:exon33:c.C15480T:p.R5160R Score=407;Name=lod=60 NA 19q13.2 Score=943;Name=V$CETS1P54_01 Name=TAF1 Name=7 NA rs1053686 0.11 0.11 0.098 0.117812 0.1431 0.0387 0.1988 0.1271 0.1033 0.14 0.03 0.14 0.13 0.1448 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194583 NA NA 0.157791 0.156378 ID=COSM148622;OCCURENCE=1(stomach) 0.196 NA 9.2209756 730 5 149001551 149001551 A C exonic ARHGEF37 NA nonsynonymous SNV ARHGEF37:NM_001001669:exon9:c.A1261C:p.M421L exonic ENSG00000183111 NA nonsynonymous SNV ENSG00000183111:ENST00000333677:exon9:c.A1261C:p.M421L Score=444;Name=lod=85 NA 5q32 NA NA NA NA rs4629585 0.41 0.41 0.394 0.436901 0.34 0.5 0.4769 0.3797 0.5204 0.34 0.53 0.42 0.36 0.4185 0.53 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.19 N 0.85 T -0.917 T 0.000 T 0.031 -1.223 0.062 4.1 0.956 0.122 8.822 -1.222824 NA 1 0.355456 0.380829 NA 0.312 NA 9.2193774 730 11 33054856 33054856 C T exonic DEPDC7 NA nonsynonymous SNV DEPDC7:NM_001077242:exon9:c.C1391T:p.T464I,DEPDC7:NM_139160:exon9:c.C1364T:p.T455I exonic ENSG00000121690 NA nonsynonymous SNV ENSG00000121690:ENST00000241051:exon9:c.C1391T:p.T464I,ENSG00000121690:ENST00000311388:exon9:c.C1364T:p.T455I NA NA 11p13 NA NA NA NA rs17852859 0.02 0.02 0.012 0.0139776 0.0447 NA 0.0216 0.0015 0.0082 0.04 NA 0.02 0.002 0.0297 0.04 0.12 T 0.008 B 0.009 B 0.005 N 1.000 N 0.29 N -1.75 D -0.922 T 0.092 T 0.037 -0.78 0.73 2.33 0.279 0.099 8.295 -0.780275 NA 0.31 0.040354 0.007739 NA 0.109 NA 9.2185794 730 11 13032511 13032511 G C exonic RASSF10 NA nonsynonymous SNV RASSF10:NM_001080521:exon1:c.G1388C:p.C463S ncRNA_exonic ENSG00000189431 NA NA NA Score=272;Name=lod=17 NA 11p15.2 Score=678;Name=V$P53_01 Name=JunD,Max Name=24 NA rs55909156 0.07 0.07 0.069 0.0822684 0.0984 0.0645 0.0576 0.0257 0.1779 0.1 0.06 0.06 0.03 0.0904 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.364584 2.364584 0.79 0.092798 0.035933 NA 0.029 NA 9.218402 730 18 21140432 21140432 T C exonic NPC1 NA nonsynonymous SNV NPC1:NM_000271:exon6:c.A644G:p.H215R exonic ENSG00000141458 NA nonsynonymous SNV ENSG00000141458:ENST00000269228:exon6:c.A644G:p.H215R NA Name=Obesity 18q11.2 NA NA NA NA rs1805081 0.24 0.24 0.21 0.21865 0.3837 0.256 0.2637 0.0197 0.2474 0.4 0.23 0.25 0.03 0.3287 0.4 0.48 T 0.0 B 0.0 B 0.484 N 1.000 P 0.665 N -2.61 D -1.039 T 0.000 T 0.018 1.164 9.736 -1.13 -0.172 0.589 0.395 1.163509 NA 0.57 0.402558 0.087835 NA 0.304 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078484.3;CLNDSDB=.;CLNDSDBID=. 9.2183754 730 5 96118852 96118852 G C exonic ERAP1 NA nonsynonymous SNV ERAP1:NM_001040458:exon15:c.C2188G:p.Q730E,ERAP1:NM_001198541:exon15:c.C2188G:p.Q730E,ERAP1:NM_016442:exon15:c.C2188G:p.Q730E exonic ENSG00000164307 NA nonsynonymous SNV ENSG00000164307:ENST00000296754:exon15:c.C2188G:p.Q730E,ENSG00000164307:ENST00000443439:exon15:c.C2188G:p.Q730E Score=343;Name=lod=33 NA 5q15 NA NA NA NA rs27044 0.65 0.65 0.661 0.679313 0.7147 0.5714 0.6513 0.711 0.7311 0.71 0.54 0.65 0.68 0.6939 0.71 1 T 0.038 B 0.035 B 0.042 N 1.000 P 0.915 L 3.41 T -0.976 T 0.000 T 0.098 -1.173 0.087 4.78 1.379 0.979 5.458 -1.172807 NA 1 0.708605 0.706083 NA 0.565 NA 9.2161284 731 17 48539035 48539035 T C exonic ACSF2 NA synonymous SNV ACSF2:NM_025149:exon4:c.T495C:p.Y165Y exonic ENSG00000167107 NA nonsynonymous SNV ENSG00000167107:ENST00000506582:exon4:c.T412C:p.C138R Score=439;Name=lod=81 NA 17q21.33 NA NA NA NA rs9674937 0.3 0.3 0.318 0.34405 0.2545 0.0863 0.2824 0.705 0.2577 0.25 0.08 0.28 0.66 0.2802 0.66 0 D . . . . . . 0.000 P . . 0.5 T -0.914 T 0.000 T . 1.538 11.1 -0.363 -0.127 1.020 10.191 1.538263 1.538263 NA 0.253488 0.617113 NA 0.5 NA 9.211812 731 19 4512629 4512629 C T exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G1301A:p.R434K exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.G1301A:p.R434K Score=329;Name=lod=29 NA 19p13.3 NA NA NA NA rs146679364 0.04 0.04 0.027 NA NA NA NA NA NA 0.04 0.0017 0.02 0.09 0.0754 0.11 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.89 N 4.08 T -0.992 T 0.000 T 0.039 -1.774 0.01 3.7 0.687 0.761 8.494 -1.773753 NA 1 0.047499 0.112543 NA 0.058 NA 9.2104344 731 8 28304767 28304767 G T exonic FBXO16 NA nonsynonymous SNV FBXO16:NM_001258211:exon6:c.C728A:p.T243N,FBXO16:NM_172366:exon7:c.C764A:p.T255N exonic ENSG00000214050 NA nonsynonymous SNV ENSG00000214050:ENST00000346498:exon6:c.C728A:p.T243N,ENSG00000214050:ENST00000518734:exon6:c.C728A:p.T243N,ENSG00000214050:ENST00000380254:exon7:c.C764A:p.T255N,ENSG00000214050:ENST00000521548:exon7:c.C764A:p.T255N Score=397;Name=lod=55 NA 8p21.1 NA NA NA NA rs7016831 0.08 0.08 0.079 0.0926518 0.0358 NA 0.0274 0.2965 0.0174 0.04 0.0017 0.02 0.26 0.0512 0.26 0.25 T 0.002 B 0.006 B 0.253 N 0.000 P 1.245 L 2.49 T -0.965 T 0.000 T 0.064 1.04 9.249 2.07 0.183 0.753 4.109 1.040345 NA 0.11 0.036628 0.210395 NA NA NA 9.2097054 731 1 207304900 207304900 T C exonic C4BPA NA nonsynonymous SNV C4BPA:NM_000715:exon8:c.T899C:p.I300T exonic ENSG00000123838 NA nonsynonymous SNV ENSG00000123838:ENST00000367070:exon8:c.T899C:p.I300T NA NA 1q32.2 NA NA NA NA rs4844573 0.47 0.47 0.478 0.489816 0.3767 0.2679 0.4625 0.8374 0.3845 0.37 0.33 0.43 0.82 0.4014 0.82 0.76 T 0.0 B 0.002 B 0.104 N 1.000 P -0.975 N 0.02 T -0.960 T 0.000 T 0.03 -0.866 0.513 -8.9 -2.717 -2.583 16.213 -0.865722 NA NA 0.346512 0.75261 NA 0.543 NA 9.2087214 731 1 228526011 228526011 C T exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon68:c.C17022T:p.A5674A,OBSCN:NM_052843:exon68:c.C17022T:p.A5674A,OBSCN:NM_001271223:exon79:c.C19893T:p.A6631A exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon68:c.C17022T:p.A5674A,ENSG00000154358:ENST00000366709:exon68:c.C8379T:p.A2793A,ENSG00000154358:ENST00000422127:exon68:c.C17022T:p.A5674A,ENSG00000154358:ENST00000366707:exon74:c.C9924T:p.A3308A,ENSG00000154358:ENST00000570156:exon79:c.C19893T:p.A6631A NA NA 1q42.13 Score=917;Name=V$ZIC3_01 NA NA NA rs11577699 0.12 0.12 0.107 0.117612 0.1372 0.1091 0.1916 0.1006 0.0767 0.14 0.09 0.2 0.08 0.1635 0.2 . . . . . . . . 1.000 P . . . . -1.017 T 0.000 T . 0.116 4.625 -2.15 -1.045 -0.668 5.259 0.116119 NA NA 0.157779 0.138231 NA 0.101 NA 9.2081876 731 5 134678863 134678863 G A exonic LOC100996485 NA nonsynonymous SNV LOC100996485:NM_001277348:exon6:c.G145A:p.A49T exonic ENSG00000224186 NA nonsynonymous SNV ENSG00000224186:ENST00000432382:exon6:c.G145A:p.A49T NA NA 5q31.1 NA NA NA NA rs868733 0.04 0.04 0.03 0.0327476 0.0706 NA 0.0418 0.0061 0.0573 0.07 NA 0.06 0.01 0.0558 0.076 0 D . . . . . . 1.000 N . . . . -1.027 T 0.009 T 0.04 1.432 10.73 -2.13 -0.559 -0.295 4.270 1.432463 1.432463 NA NA NA NA 0.051 NA 9.2069334 731 10 134748331 134748331 C T exonic TTC40 NA nonsynonymous SNV TTC40:NM_001200049:exon8:c.G791A:p.S264N exonic ENSG00000171811 NA nonsynonymous SNV ENSG00000171811:ENST00000368582:exon8:c.G791A:p.S264N,ENSG00000171811:ENST00000368585:exon8:c.G791A:p.S264N,ENSG00000171811:ENST00000368586:exon8:c.G791A:p.S264N NA NA 10q26.3 NA NA NA NA rs12781609 0.37 0.37 0.357 0.373403 0.3459 0.3413 0.5014 0.323 0.4121 0.35 0.36 0.46 0.35 0.4018 0.46 0.48 T 0.0 B 0.001 B 0.014 N 1.000 P -0.69 N 0.6 T -1.010 T 0.000 T 0.041 0.005 4.04 -5.5 -1.228 -2.323 2.083 0.004943 NA 0.51 0.378837 0.356105 NA 0.355 NA 9.2067964 731 7 123269118 123269118 G C exonic ASB15 NA nonsynonymous SNV ASB15:NM_080928:exon8:c.G1070C:p.G357A exonic ENSG00000146809 NA nonsynonymous SNV ENSG00000146809:ENST00000275699:exon8:c.G1070C:p.G357A,ENSG00000146809:ENST00000540573:exon8:c.G1070C:p.G357A,ENSG00000146809:ENST00000434204:exon9:c.G1070C:p.G357A,ENSG00000146809:ENST00000451215:exon10:c.G1070C:p.G357A,ENSG00000146809:ENST00000451558:exon12:c.G1070C:p.G357A Score=369;Name=lod=42 NA 7q31.32 NA NA NA NA rs4731112 0.77 0.77 0.751 0.791733 0.7078 0.8284 0.7406 0.8215 0.8364 0.72 0.82 0.75 0.82 0.7411 0.82 1 T 0.0 B 0.0 B 0.000 N 0.975 P -3.225 N 1.3 T -0.903 T 0.000 T 0.235 0.991 9.046 6.17 1.643 5.778 17.866 0.990777 NA 1 0.678605 0.799818 NA 0.58 NA 9.2058284 731 15 75970070 75970070 C T exonic CSPG4 NA nonsynonymous SNV CSPG4:NM_001897:exon9:c.G5108A:p.R1703H exonic ENSG00000173546 NA nonsynonymous SNV ENSG00000173546:ENST00000308508:exon9:c.G5108A:p.R1703H Score=523;Name=lod=178 NA 15q24.2 NA NA NA NA rs8023621 0.26 0.26 0.216 0.262979 0.3787 0.1885 0.3919 0.1634 0.2638 0.38 0.14 0.36 0.15 0.3496 0.4 0.15 T 0.002 B 0.001 B 0.001 N 0.010 P 1.155 L 2.09 T -0.923 T 0.000 T 0.195 2.718 15.05 3.09 0.521 1.492 5.585 2.717852 2.717852 0.07 0.399977 0.201866 NA 0.312 NA 9.2050564 732 9 79324439 79324439 A G exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.T2751C:p.D917D exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.T2751C:p.D917D,ENSG00000106772:ENST00000428286:exon8:c.T1674C:p.D558D Score=409;Name=lod=61 NA 9q21.2 Score=760;Name=V$STAT5A_02 NA NA NA rs12238013 0.26 0.26 0.26 0.23742 0.1551 0.4643 0.1599 0.2103 0.18 0.15 0.5 0.14 0.22 0.1845 0.5 . . . . . . . . 0.988 P . . . . -0.910 T 0.000 T . -1.273 0.044 -2.73 -0.351 -0.311 3.959 -1.273443 NA NA 0.123116 0.200255 NA 0.167 NA 9.2039506 732 2 54844790 54844790 C T exonic SPTBN1 NA synonymous SNV SPTBN1:NM_178313:exon5:c.C573T:p.D191D,SPTBN1:NM_003128:exon6:c.C612T:p.D204D exonic ENSG00000115306 NA synonymous SNV ENSG00000115306:ENST00000333896:exon5:c.C573T:p.D191D,ENSG00000115306:ENST00000356805:exon6:c.C612T:p.D204D,ENSG00000115306:ENST00000389980:exon6:c.C612T:p.D204D Score=654;Name=lod=605 NA 2p16.2 Score=880;Name=V$SPZ1_01 Name=FOXA1_(C-20),p300,FOXA2_(SC-6554),FOXA1_(SC-101058) Name=7 NA rs2229506 0.11 0.11 0.119 0.113419 0.167 0.0506 0.1052 0.1165 0.1247 0.15 0.06 0.11 0.11 0.143 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327065 1.327065 NA 0.155116 0.120971 NA 0.094 NA 9.2015506 732 8 145058986 145058986 A G exonic PARP10 NA nonsynonymous SNV PARP10:NM_032789:exon5:c.T1184C:p.L395P exonic ENSG00000178685 NA nonsynonymous SNV ENSG00000178685:ENST00000313059:exon4:c.T929C:p.L310P,ENSG00000178685:ENST00000525773:exon4:c.T1220C:p.L407P,ENSG00000178685:ENST00000313028:exon5:c.T1184C:p.L395P,ENSG00000178685:ENST00000524918:exon5:c.T1184C:p.L395P,ENSG00000178685:ENST00000527262:exon5:c.T1184C:p.L395P NA NA 8q24.3 NA NA NA NA rs11136343 0.35 0.35 0.351 0.364417 0.3926 0.124 0.255 0.5915 0.3538 0.38 0.13 0.28 0.6 0.3591 0.6 0.36 T 0.0 B 0.0 B 0.981 N 1.000 P 0.69 N 2.87 T -0.938 T 0.000 T 0.398 0.455 6.469 -5.99 -1.692 -2.851 6.835 0.454757 NA 0.08 0.380349 0.570359 NA 0.449 NA 9.2012844 732 19 8808900 8808900 A G exonic ACTL9 NA nonsynonymous SNV ACTL9:NM_178525:exon1:c.T152C:p.V51A exonic ENSG00000181786 NA nonsynonymous SNV ENSG00000181786:ENST00000324436:exon1:c.T152C:p.V51A NA NA 19p13.2 NA NA Name=7 NA rs10410943 0.78 0.78 0.762 0.791733 0.7127 0.874 0.7219 0.7995 0.8272 0.71 0.86 0.73 0.81 0.7357 0.86 1 T 0.0 B 0.0 B 0.355 N 1.000 P -1.645 N -3.11 D -0.957 T 0.000 T 0.068 -0.746 0.828 3.12 0.907 4.998 9.986 -0.746413 NA 1 0.68407 0.792329 NA 0.688 NA 9.2008634 732 2 88874891 88874891 C A exonic EIF2AK3 NA nonsynonymous SNV EIF2AK3:NM_004836:exon13:c.G2110T:p.A704S exonic ENSG00000172071 NA nonsynonymous SNV ENSG00000172071:ENST00000415570:exon12:c.G1747T:p.A583S,ENSG00000172071:ENST00000303236:exon13:c.G2110T:p.A704S,ENSG00000172071:ENST00000419748:exon13:c.G1657T:p.A553S Score=483;Name=lod=123 NA 2p11.2 NA NA NA NA rs1805165 0.71 0.71 0.745 0.720647 0.7018 0.5149 0.67 0.9834 0.6329 0.71 0.52 0.66 0.98 0.7021 0.98 1 T 0.003 B 0.003 B 0.000 N 1.000 P -0.93 N -0.3 T -0.930 T 0.000 T 0.136 2.546 14.47 4.91 0.545 2.494 9.150 2.545891 2.545891 0.04 0.729884 0.941897 NA 0.804 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116968.2;CLNDSDB=.;CLNDSDBID=. 9.1995494 732 18 51820805 51820805 G A exonic POLI NA nonsynonymous SNV POLI:NM_007195:exon10:c.G2191A:p.A731T exonic ENSG00000101751 NA nonsynonymous SNV ENSG00000101751:ENST00000217800:exon9:c.G1813A:p.A605T,ENSG00000101751:ENST00000406285:exon9:c.G1954A:p.A652T,ENSG00000101751:ENST00000579434:exon9:c.G1882A:p.A628T,ENSG00000101751:ENST00000579534:exon10:c.G2191A:p.A731T Score=374;Name=lod=44 NA 18q21.2 NA Name=MafK_(ab50322),MafF_(M8194) NA NA rs8305 0.77 0.77 0.778 0.789137 0.7078 0.7054 0.6455 0.9887 0.7914 0.71 0.72 0.68 0.98 0.7282 0.98 0.92 T 0.001 B 0.001 B 0.650 N 1.000 P 0.09 N 0.89 T -0.992 T 0.000 T 0.044 1.41 10.65 -5.15 -1.312 -0.656 10.626 1.410335 1.410335 0.8 0.69893 0.932365 NA 0.804 NA 9.1984034 732 8 28304769 28304769 C T exonic FBXO16 NA nonsynonymous SNV FBXO16:NM_001258211:exon6:c.G726A:p.M242I,FBXO16:NM_172366:exon7:c.G762A:p.M254I exonic ENSG00000214050 NA nonsynonymous SNV ENSG00000214050:ENST00000346498:exon6:c.G726A:p.M242I,ENSG00000214050:ENST00000518734:exon6:c.G726A:p.M242I,ENSG00000214050:ENST00000380254:exon7:c.G762A:p.M254I,ENSG00000214050:ENST00000521548:exon7:c.G762A:p.M254I Score=397;Name=lod=55 NA 8p21.1 NA NA NA NA rs1390963 0.46 0.46 0.452 0.474641 0.3618 0.5506 0.4207 0.5976 0.3845 0.36 0.55 0.4 0.54 0.4065 0.55 0.38 T 0.002 B 0.005 B 0.755 U 0.000 P 1.87 L 2.55 T -0.937 T 0.000 T 0.118 1.927 12.4 5.01 2.489 0.294 14.175 1.927336 1.927336 0.35 0.367209 0.538584 NA 0.384 NA 9.1978244 732 15 79054900 79054900 C G exonic ADAMTS7 NA nonsynonymous SNV ADAMTS7:NM_014272:exon23:c.G4748C:p.G1583A exonic ENSG00000136378 NA nonsynonymous SNV ENSG00000136378:ENST00000388820:exon23:c.G4748C:p.G1583A Score=470;Name=lod=108 NA 15q25.1 Score=802;Name=V$OLF1_01 NA NA NA rs7495616 0.69 0.69 0.669 0.666534 0.7515 0.5913 0.6671 0.7156 0.59 0.73 0.6 0.66 0.74 0.6628 0.75 1 T 0.001 B 0.002 B 0.000 N 0.984 P -2.095 N 0.31 T -0.926 T 0.000 T 0.076 -0.175 3.147 4.59 0.917 3.474 13.544 -0.174983 NA 1 0.722689 0.746463 NA 0.812 NA 9.1963444 732 17 39643646 39643646 G A exonic KRT36 NA nonsynonymous SNV KRT36:NM_003771:exon5:c.C944T:p.T315M exonic ENSG00000126337 NA nonsynonymous SNV ENSG00000126337:ENST00000328119:exon5:c.C944T:p.T315M,ENSG00000126337:ENST00000393986:exon6:c.C794T:p.T265M NA NA 17q21.2 NA NA NA NA rs2301354 0.45 0.45 0.428 0.484425 0.5398 0.3323 0.5447 0.4024 0.6524 0.54 0.3 0.61 0.39 0.5506 0.61 0.01 D 0.818 P 0.36 B 0.041 N 0.999 P 2.575 M -2.5 D -0.929 T 0.000 T 0.078 2.437 14.11 1.13 0.389 -0.279 17.877 2.436719 2.436719 0.01 0.546744 0.413981 NA 0.514 NA 9.1961894 732 17 73565171 73565171 T C exonic LLGL2 NA nonsynonymous SNV LLGL2:NM_001031803:exon13:c.T1435C:p.F479L,LLGL2:NM_004524:exon13:c.T1435C:p.F479L exonic ENSG00000073350 NA nonsynonymous SNV ENSG00000073350:ENST00000167462:exon13:c.T1435C:p.F479L,ENSG00000073350:ENST00000392550:exon13:c.T1435C:p.F479L,ENSG00000073350:ENST00000577200:exon13:c.T1435C:p.F479L Score=393;Name=lod=53 NA 17q25.1 NA NA NA NA rs1671021 0.45 0.45 0.451 0.464856 0.3738 0.2639 0.3372 0.907 0.2587 0.38 0.22 0.35 0.9 0.3773 0.9 0.47 T 0.0 B 0.0 B 0.000 N 0.000 P -0.92 N 2.97 T -1.019 T 0.000 T 0.101 1.409 10.65 4.33 0.637 2.038 2.731 1.409361 1.409361 0.69 0.386047 0.823877 NA 0.5 NA 9.1961864 732 15 54307925 54307925 C T exonic UNC13C NA nonsynonymous SNV UNC13C:NM_001080534:exon1:c.C2825T:p.S942L exonic ENSG00000137766 NA nonsynonymous SNV ENSG00000137766:ENST00000260323:exon1:c.C2825T:p.S942L,ENSG00000137766:ENST00000537900:exon1:c.C2825T:p.S942L,ENSG00000137766:ENST00000545554:exon1:c.C2825T:p.S942L NA NA 15q21.3 Score=784;Name=V$TCF11MAFG_01 NA NA NA rs17731958 0.08 0.08 0.077 0.0678914 0.0378 0.1607 0.134 0.0008 0.047 0.04 0.17 0.12 0.002 0.0631 0.17 0.22 T 0.0 B 0.0 B . . 1.000 P 0.345 N -1.19 T -1.083 T 0.001 T 0.06 0.444 6.412 2.56 0.684 0.071 9.974 0.444147 NA 0.02 0.036541 0.013986 NA 0.043 NA 9.1958924 732 6 96054262 96054262 G A exonic MANEA NA nonsynonymous SNV MANEA:NM_024641:exon5:c.G1370A:p.R457H exonic ENSG00000172469 NA nonsynonymous SNV ENSG00000172469:ENST00000358812:exon5:c.G1370A:p.R457H NA NA 6q16.1 NA NA NA NA rs75510775 0.04 0.04 0.039 0.0341454 0.0517 NA 0.0375 0.0643 0.0082 0.04 NA 0.04 0.06 0.0382 0.064 0.27 T 0.0 B 0.0 B 0.208 N 1.000 N 0 N . . -0.978 T 0.015 T 0.014 -1.122 0.124 4.19 0.475 1.056 5.615 -1.122266 NA 0.76 0.047686 0.064004 NA 0.036 NA 9.1957474 732 1 24671418 24671418 A G exonic GRHL3 NA nonsynonymous SNV GRHL3:NM_001195010:exon12:c.A1313G:p.N438S,GRHL3:NM_021180:exon12:c.A1466G:p.N489S,GRHL3:NM_198173:exon12:c.A1451G:p.N484S,GRHL3:NM_198174:exon12:c.A1451G:p.N484S exonic ENSG00000158055 NA nonsynonymous SNV ENSG00000158055:ENST00000236255:exon12:c.A1466G:p.N489S,ENSG00000158055:ENST00000342072:exon12:c.A1172G:p.N391S,ENSG00000158055:ENST00000350501:exon12:c.A1451G:p.N484S,ENSG00000158055:ENST00000356046:exon12:c.A1313G:p.N438S,ENSG00000158055:ENST00000361548:exon12:c.A1451G:p.N484S Score=412;Name=lod=63 NA 1p36.11 NA NA NA NA rs116396279 0.02 0.02 0.022 0.0181709 0.0596 NA 0.0231 0.0015 0.0133 0.06 NA 0.03 0.002 0.0325 0.06 0.84 T 0.001 B 0.002 B 0.436 N 0.714 D -0.695 N 3.03 T -0.902 T 0.001 T 0.039 0.596 7.212 -0.14 -0.113 0.882 8.000 0.595687 NA 0.5 0.046047 0.009079 NA NA NA 9.1951864 733 22 43089849 43089849 T C exonic A4GALT NA nonsynonymous SNV A4GALT:NM_017436:exon3:c.A109G:p.M37V exonic ENSG00000128274 NA nonsynonymous SNV ENSG00000128274:ENST00000249005:exon2:c.A109G:p.M37V,ENSG00000128274:ENST00000381278:exon2:c.A109G:p.M37V,ENSG00000128274:ENST00000401850:exon2:c.A109G:p.M37V NA NA 22q13.2 NA NA NA NA rs11541159 0.34 0.34 0.316 0.350639 0.3827 0.1319 0.3415 0.5083 0.3364 0.37 0.13 0.4 0.48 0.3867 0.48 0.94 T 0.0 B 0.0 B 0.314 U 1.000 P 0 N -1.33 T -1.048 T 0.000 T 0.048 1.205 9.896 -4.6 -1.433 -1.483 3.711 1.20549 NA 0.42 0.370202 0.471163 NA 0.37 NA 9.1937314 733 22 26388337 26388337 C T exonic MYO18B NA synonymous SNV MYO18B:NM_032608:exon40:c.C6165T:p.Y2055Y exonic ENSG00000133454 NA synonymous SNV ENSG00000133454:ENST00000335473:exon40:c.C6165T:p.Y2055Y,ENSG00000133454:ENST00000407587:exon40:c.C6168T:p.Y2056Y,ENSG00000133454:ENST00000536101:exon40:c.C6165T:p.Y2055Y Score=481;Name=lod=120 NA 22q12.1 NA NA NA NA rs916425 0.12 0.12 0.127 0.114018 0.1759 0.001 0.1066 0.1997 0.0562 0.18 0.0017 0.12 0.19 0.1358 0.19 . . . . . . . . 0.000 P . . . . -1.051 T 0.000 T . -0.595 1.337 -6.94 -1.610 -0.838 11.147 -0.595152 NA NA 0.161264 0.185364 NA 0.283 NA 9.1937026 733 15 51350287 51350287 T G exonic TNFAIP8L3 NA nonsynonymous SNV TNFAIP8L3:NM_207381:exon3:c.A670C:p.N224H exonic ENSG00000183578 NA nonsynonymous SNV ENSG00000183578:ENST00000327536:exon3:c.A670C:p.N224H Score=401;Name=lod=57 NA 15q21.2 NA NA NA NA rs78897873 0.02 0.02 0.028 0.0157748 0.0547 NA 0.0216 0.0015 0.0072 0.05 NA 0.03 0.002 0.0345 0.051 0.09 T 0.152 B 0.025 B 0.031 N 1.000 N 0.55 N 1.53 T -1.059 T 0.007 T 0.025 2.933 15.77 -1.38 0.048 2.126 6.164 2.932509 2.932509 0.08 0.050547 0.009335 NA 0.014 NA 9.1935864 733 9 90500627 90500627 G A exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.G1225A:p.V409M exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.G1225A:p.V409M NA NA 9q22.1 NA NA NA NA rs34946554 0.08 0.08 0.088 0.0780751 0.0497 NA 0.0375 0.2337 0.0061 0.05 NA 0.04 0.23 0.0465 0.23 0.13 T 0.072 B 0.009 B 0.004 N 1.000 P 0 N 3.96 T -0.940 T 0.000 T 0.02 -0.895 0.448 -4.31 -2.871 -0.326 2.385 -0.895324 NA 0.59 0.044196 0.182478 NA 0.094 NA 9.1929374 733 6 52617738 52617738 G A exonic GSTA2 NA nonsynonymous SNV GSTA2:NM_000846:exon5:c.C328T:p.P110S exonic ENSG00000244067 NA nonsynonymous SNV ENSG00000244067:ENST00000493422:exon5:c.C328T:p.P110S NA NA 6p12.2 NA NA NA NA rs2234951 0.06 0.06 0.045 0.0706869 0.0527 0.13 0.0216 0.0015 0.1564 0.06 0.13 0.02 0.0041 0.0569 0.13 0.12 T 0.005 B 0.012 B 0.000 D 1.000 P 2.625 M 4.5 T -1.023 T 0.005 T 0.075 1.232 9.997 1.34 0.498 0.375 8.105 1.232425 NA NA 0.034651 0.007717 NA 0.029 NA 9.1890824 733 2 202430584 202430584 G A exonic ALS2CR11 NA nonsynonymous SNV ALS2CR11:NM_001168216:exon9:c.C845T:p.T282I,ALS2CR11:NM_001168217:exon9:c.C845T:p.T282I,ALS2CR11:NM_001168221:exon9:c.C845T:p.T282I,ALS2CR11:NM_152525:exon9:c.C845T:p.T282I exonic ENSG00000155754 NA nonsynonymous SNV ENSG00000155754:ENST00000286195:exon9:c.C845T:p.T282I,ENSG00000155754:ENST00000439140:exon9:c.C845T:p.T282I,ENSG00000155754:ENST00000439802:exon9:c.C845T:p.T282I,ENSG00000155754:ENST00000450242:exon9:c.C845T:p.T282I NA NA 2q33.1 Score=869;Name=V$OCT1_03 NA NA NA rs73991652 0.04 0.04 0.035 0.04373 0.0477 NA 0.0476 0.0991 0.0072 0.05 NA 0.04 0.07 0.043 0.078 0.21 T 0.213 B 0.061 B 0.040 N 1.000 N 0.77 N 0.94 T -1.053 T 0.005 T 0.054 -1.321 0.033 -3.54 -0.455 -0.378 11.585 -1.32089 NA 0.07 0.053837 0.077621 NA 0.036 NA 9.1887964 733 9 99581916 99581916 C G exonic ZNF782 NA nonsynonymous SNV ZNF782:NM_001001662:exon6:c.G389C:p.R130P exonic ENSG00000196597 NA nonsynonymous SNV ENSG00000196597:ENST00000478850:exon5:c.G389C:p.R130P,ENSG00000196597:ENST00000481138:exon6:c.G389C:p.R130P NA NA 9q22.33 NA Name=SETDB1 NA NA rs7870376 0.21 0.21 0.244 0.21865 0.0318 0.3185 0.0562 0.4327 0.1339 0.03 0.34 0.06 0.44 0.0927 0.44 1 T 0.0 B 0.0 B 0.319 N 0.863 P -1.08 N 5.83 T -0.939 T 0.000 T 0.405 -1.539 0.016 2.47 0.440 0.814 2.280 -1.539349 NA NA 0.020116 0.376759 ID=COSM150639;OCCURENCE=1(stomach) 0.152 NA 9.1887174 733 10 94695617 94695617 C T exonic EXOC6 NA nonsynonymous SNV EXOC6:NM_001013848:exon12:c.C1172T:p.T391I,EXOC6:NM_019053:exon12:c.C1187T:p.T396I exonic ENSG00000138190 NA nonsynonymous SNV ENSG00000138190:ENST00000495132:exon4:c.C218T:p.T73I,ENSG00000138190:ENST00000260762:exon12:c.C1187T:p.T396I,ENSG00000138190:ENST00000371552:exon12:c.C1172T:p.T391I,ENSG00000138190:ENST00000371547:exon13:c.C1235T:p.T412I Score=634;Name=lod=502 NA 10q23.33 NA NA NA NA rs1326331 0.86 0.86 0.863 0.888578 0.6839 0.996 0.8473 0.9924 0.8773 0.68 1 0.82 0.99 0.7725 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.81 N 2.44 T -0.955 T 0.000 T 0.233 0.598 7.226 5.75 1.011 6.285 11.866 0.598293 NA 1 0.688953 0.935996 NA 0.855 NA 9.1879804 733 22 50943232 50943232 G A exonic LMF2 NA nonsynonymous SNV LMF2:NM_033200:exon10:c.C1436T:p.T479M exonic ENSG00000100258 NA nonsynonymous SNV ENSG00000100258:ENST00000216080:exon10:c.C1361T:p.T454M,ENSG00000100258:ENST00000474879:exon10:c.C1436T:p.T479M Score=397;Name=lod=55 NA 22q13.33 NA NA NA NA rs8136495 0.16 0.16 0.16 0.141973 0.2316 0.0387 0.1398 0.1626 0.1299 0.23 0.03 0.16 0.18 0.1853 0.23 0.07 T 0.699 P 0.225 B 0.002 N 0.000 P 1.825 L 1.89 T -1.031 T 0.000 T 0.415 1.89 12.28 1.58 0.120 2.881 5.913 1.889841 1.889841 0.04 0.228865 0.158904 NA 0.094 NA 9.1875684 733 10 123846490 123846490 C T exonic TACC2 NA nonsynonymous SNV TACC2:NM_206862:exon4:c.C4475T:p.P1492L exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000334433:exon3:c.C4475T:p.P1492L,ENSG00000138162:ENST00000453444:exon3:c.C4475T:p.P1492L,ENSG00000138162:ENST00000369005:exon4:c.C4475T:p.P1492L,ENSG00000138162:ENST00000515273:exon4:c.C4475T:p.P1492L,ENSG00000138162:ENST00000515603:exon4:c.C4475T:p.P1492L NA NA 10q26.13 NA NA NA NA rs7920896 0.07 0.07 0.062 0.0814696 0.0437 0.0536 0.1427 0.1082 0.0695 0.05 0.06 0.09 0.11 0.0653 0.11 0.01 D 0.005 B 0.007 B 0.799 N 1.000 N 0.975 L 3.71 T -0.944 T 0.000 T 0.071 2.774 15.24 2.3 0.576 0.715 5.930 2.773624 2.773624 0 0.038023 0.083296 NA 0.087 NA 9.1863104 733 12 104408794 104408794 C T exonic GLT8D2 NA nonsynonymous SNV GLT8D2:NM_031302:exon4:c.G109A:p.A37T exonic ENSG00000120820 NA nonsynonymous SNV ENSG00000120820:ENST00000546436:exon3:c.G109A:p.A37T,ENSG00000120820:ENST00000360814:exon4:c.G109A:p.A37T,ENSG00000120820:ENST00000547583:exon4:c.G109A:p.A37T,ENSG00000120820:ENST00000548660:exon4:c.G109A:p.A37T NA NA 12q23.3 NA NA NA NA rs17035120 0.13 0.13 0.103 0.140974 0.0328 0.3512 0.0951 0.0756 0.1564 0.04 0.32 0.1 0.09 0.0852 0.32 0.7 T 0.001 B 0.0 B 0.221 N 0.997 P 0.345 N 1.52 T -0.962 T 0.000 T 0.022 -0.006 3.984 -2.09 -0.216 -1.103 5.266 -0.005865 NA 0.46 0.029535 0.072628 NA 0.116 NA 9.1857984 734 1 19565344 19565344 C G exonic EMC1 NA nonsynonymous SNV EMC1:NM_001271429:exon9:c.G968C:p.S323T,EMC1:NM_001271427:exon10:c.G1031C:p.S344T,EMC1:NM_001271428:exon10:c.G1034C:p.S345T,EMC1:NM_015047:exon10:c.G1034C:p.S345T exonic ENSG00000127463 NA nonsynonymous SNV ENSG00000127463:ENST00000375208:exon9:c.G968C:p.S323T,ENSG00000127463:ENST00000375199:exon10:c.G1031C:p.S344T,ENSG00000127463:ENST00000477853:exon10:c.G1034C:p.S345T NA NA 1p36.13 NA NA NA NA rs709683 0.56 0.56 0.565 0.572284 0.3469 0.7401 0.5101 0.7315 0.4601 0.35 0.75 0.46 0.73 0.4418 0.75 0.62 T 0.0 B 0.0 B 0.282 N 1.000 P 0 N 1.98 T -1.041 T 0.000 T 0.029 0.69 7.688 5.22 1.643 2.667 16.283 0.690412 NA 0.2 0.359884 0.683613 NA 0.565 NA 9.1847494 734 1 206225011 206225011 G C exonic AVPR1B NA nonsynonymous SNV AVPR1B:NM_000707:exon1:c.G571C:p.G191R exonic ENSG00000198049 NA nonsynonymous SNV ENSG00000198049:ENST00000367126:exon1:c.G571C:p.G191R Score=492;Name=lod=133 NA 1q32.1 NA NA NA NA rs33990840 0.05 0.05 0.048 0.0593051 0.0507 0.006 0.0403 0.1256 0.047 0.05 0.01 0.05 0.12 0.0525 0.12 0.62 T 0.0 B 0.004 B 0.121 N 1.000 P -0.11 N 1.22 T -1.029 T 0.001 T 0.045 1.323 10.34 4.98 0.823 0.194 4.131 1.323494 1.323494 0.35 0.046693 0.091095 NA 0.116 NA 9.1834404 734 2 163128824 163128824 T C exonic IFIH1 NA nonsynonymous SNV IFIH1:NM_022168:exon13:c.A2528G:p.H843R exonic ENSG00000115267 NA nonsynonymous SNV ENSG00000115267:ENST00000263642:exon13:c.A2528G:p.H843R Score=557;Name=lod=245 NA 2q24.2 NA NA NA NA rs3747517 0.61 0.61 0.569 0.589856 0.7505 0.3135 0.7666 0.5764 0.6022 0.74 0.34 0.76 0.6 0.6762 0.76 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.105 N 3.83 T -0.966 T 0.000 T 0.124 0.726 7.862 5.76 1.449 4.684 15.098 0.726267 NA 1 0.726047 0.624376 NA 0.659 NA 9.1805864 734 14 24839083 24839083 G C exonic NFATC4 NA nonsynonymous SNV NFATC4:NM_001198965:exon2:c.G479C:p.G160A,NFATC4:NM_001198966:exon2:c.G269C:p.G90A,NFATC4:NM_004554:exon2:c.G479C:p.G160A,NFATC4:NM_001136022:exon3:c.G668C:p.G223A,NFATC4:NM_001198967:exon3:c.G668C:p.G223A exonic ENSG00000100968 NA nonsynonymous SNV ENSG00000100968:ENST00000554344:exon1:c.G269C:p.G90A,ENSG00000100968:ENST00000554661:exon1:c.G269C:p.G90A,ENSG00000100968:ENST00000557451:exon1:c.G269C:p.G90A,ENSG00000100968:ENST00000250373:exon2:c.G479C:p.G160A,ENSG00000100968:ENST00000422617:exon2:c.G443C:p.G148A,ENSG00000100968:ENST00000553708:exon2:c.G479C:p.G160A,ENSG00000100968:ENST00000553879:exon2:c.G269C:p.G90A,ENSG00000100968:ENST00000554050:exon2:c.G479C:p.G160A,ENSG00000100968:ENST00000555453:exon2:c.G443C:p.G148A,ENSG00000100968:ENST00000556169:exon2:c.G443C:p.G148A,ENSG00000100968:ENST00000557674:exon2:c.G410C:p.G137A,ENSG00000100968:ENST00000413692:exon3:c.G668C:p.G223A,ENSG00000100968:ENST00000424781:exon3:c.G518C:p.G173A,ENSG00000100968:ENST00000539237:exon3:c.G575C:p.G192A,ENSG00000100968:ENST00000553469:exon3:c.G575C:p.G192A,ENSG00000100968:ENST00000554591:exon3:c.G668C:p.G223A,ENSG00000100968:ENST00000554966:exon3:c.G518C:p.G173A,ENSG00000100968:ENST00000555590:exon3:c.G518C:p.G173A,ENSG00000100968:ENST00000556279:exon3:c.G575C:p.G192A Score=500;Name=lod=143 NA 14q12 NA NA NA NA rs2229309 0.32 0.32 0.303 0.280351 0.5716 0.1448 0.379 0.084 0.316 0.56 0.16 0.41 0.08 0.4953 0.59 1 T 0.969 D 0.588 P 0.684 N 0.000 P 0.69 N 2.49 T -1.054 T 0.000 T 0.236 0.861 8.484 1.81 0.220 2.027 11.077 0.860535 NA 0.21 0.585971 0.165563 NA 0.471 NA 9.1804624 734 19 9003645 9003645 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon49:c.C39995T:p.T13332I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon49:c.C39995T:p.T13332I NA NA 19p13.2 Score=806;Name=V$HNF1_01 NA NA NA rs11085777 0.31 0.31 0.277 0.252196 0.4135 0.2698 0.3617 0.0787 0.2249 0.4 0.31 0.39 0.1 0.3454 0.4 0 D 0.325 B 0.219 B . . . . 1.845 L 0.72 T -0.958 T 0.000 T 0.094 1.698 11.64 -2.8 -0.543 -0.040 3.132 1.697732 1.697732 0.19 0.39458 0.13051 NA 0.261 NA 9.1798534 734 12 71523134 71523134 A C exonic TSPAN8 NA nonsynonymous SNV TSPAN8:NM_004616:exon8:c.T637G:p.S213A exonic ENSG00000127324 NA nonsynonymous SNV ENSG00000127324:ENST00000552128:exon5:c.T388G:p.S130A,ENSG00000127324:ENST00000546561:exon7:c.T637G:p.S213A,ENSG00000127324:ENST00000247829:exon8:c.T637G:p.S213A,ENSG00000127324:ENST00000393330:exon11:c.T637G:p.S213A Score=393;Name=lod=53 NA 12q21.1 NA NA NA NA rs1051334 0.29 0.29 0.3 0.250799 0.3986 0.2877 0.2291 0.1203 0.2526 0.39 0.31 0.26 0.11 0.3449 0.41 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.935 N -1.04 T -0.957 T 0.000 T 0.059 0.001 4.019 4.88 0.895 1.278 12.030 0.001031 NA 1 0.410191 0.189349 NA 0.261 NA 9.1796424 734 6 24588884 24588884 C T exonic KIAA0319 NA nonsynonymous SNV KIAA0319:NM_001168376:exon3:c.G796A:p.A266T,KIAA0319:NM_001168375:exon4:c.G931A:p.A311T,KIAA0319:NM_001168377:exon4:c.G931A:p.A311T,KIAA0319:NM_014809:exon4:c.G931A:p.A311T,KIAA0319:NM_001168374:exon5:c.G904A:p.A302T exonic ENSG00000137261 NA nonsynonymous SNV ENSG00000137261:ENST00000430948:exon3:c.G796A:p.A266T,ENSG00000137261:ENST00000378214:exon4:c.G931A:p.A311T,ENSG00000137261:ENST00000537886:exon4:c.G931A:p.A311T,ENSG00000137261:ENST00000543707:exon4:c.G931A:p.A311T,ENSG00000137261:ENST00000535378:exon5:c.G904A:p.A302T NA NA 6p22.3 NA NA NA NA rs4504469 0.23 0.23 0.223 0.205871 0.4225 0.1121 0.2248 0.0371 0.2945 0.44 0.12 0.22 0.04 0.3277 0.44 0.59 T 0.002 B 0.002 B 0.946 N 1.000 P -1.43 N 3.29 T -0.912 T 0.001 T 0.056 -0.144 3.297 -4.6 -1.160 -1.525 7.824 -0.14364 NA 1 0.403605 0.096005 NA 0.319 NA 9.1795284 734 10 61414176 61414176 G A exonic SLC16A9 NA nonsynonymous SNV SLC16A9:NM_194298:exon5:c.C608T:p.A203V exonic ENSG00000165449 NA nonsynonymous SNV ENSG00000165449:ENST00000395347:exon5:c.C608T:p.A203V,ENSG00000165449:ENST00000395348:exon5:c.C608T:p.A203V NA NA 10q21.2 NA NA NA NA rs56370926 0.03 0.03 0.033 0.0317492 0.0616 NA 0.0173 0.0023 0.0838 0.06 NA 0.02 0.002 0.0414 0.06 0.27 T 0.201 B 0.087 B 0.172 N 1.000 N 0.625 N -1.51 D -1.038 T 0.043 T 0.015 -0.502 1.699 1.94 1.147 0.456 6.524 -0.502086 NA 0.26 0.053605 0.01044 NA 0.094 NA 9.1767284 734 17 34072031 34072031 G A exonic GAS2L2 NA nonsynonymous SNV GAS2L2:NM_139285:exon6:c.C2485T:p.R829W exonic ENSG00000132139 NA nonsynonymous SNV ENSG00000132139:ENST00000254466:exon6:c.C2485T:p.R829W,ENSG00000132139:ENST00000587565:exon7:c.C2437T:p.R813W NA NA 17q12 NA NA NA NA rs56386706 0.03 0.03 0.025 0.0259585 0.0626 NA 0.0375 0.0045 0.0358 0.05 NA 0.03 0.01 0.0397 0.055 0.02 D 0.963 D 0.183 B 0.020 N 1.000 N 0 N 2.19 T -1.048 T 0.004 T 0.067 1.548 11.13 0.351 0.131 0.218 4.358 1.547655 1.547655 0 0.054767 0.01271 NA 0.08 NA 9.1762664 734 2 71060111 71060111 G A exonic CD207 NA nonsynonymous SNV CD207:NM_015717:exon4:c.C637T:p.P213S exonic ENSG00000116031 NA nonsynonymous SNV ENSG00000116031:ENST00000410009:exon4:c.C637T:p.P213S NA NA 2p13.3 NA NA NA NA rs17006436 0.03 0.03 0.02 0.0191693 0.0626 NA 0.0389 0.0008 0.0051 0.06 NA 0.04 NA 0.0362 0.06 0.64 T 0.0 B 0.001 B 0.065 N 1.000 N 0.195 N 2.23 T -0.999 T 0.002 T 0.027 -1.68 0.012 -10.7 -4.351 -7.217 0.188 -1.679668 NA 0.28 0.059179 0.012701 NA 0.029 NA 9.1753544 734 7 129938598 129938598 G T exonic CPA4 NA nonsynonymous SNV CPA4:NM_001163446:exon2:c.G81T:p.L27F,CPA4:NM_016352:exon2:c.G81T:p.L27F exonic ENSG00000128510 NA nonsynonymous SNV ENSG00000128510:ENST00000222482:exon2:c.G81T:p.L27F,ENSG00000128510:ENST00000445470:exon2:c.G81T:p.L27F,ENSG00000128510:ENST00000470542:exon2:c.G81T:p.L27F,ENSG00000128510:ENST00000473956:exon2:c.G81T:p.L27F,ENSG00000128510:ENST00000492072:exon2:c.G81T:p.L27F Score=503;Name=lod=148 NA 7q32.2 Score=756;Name=V$STAT5A_02 NA NA NA rs34587586 0.36 0.36 0.328 0.35603 0.3877 0.3581 0.3458 0.3253 0.3701 0.37 0.37 0.39 0.32 0.3688 0.4 0.63 T 0.008 B 0.219 B 0.001 N 0.000 P 0.58 N 2.47 T -0.899 T 0.000 T 0.266 0.616 7.318 4.47 0.512 0.604 5.396 0.616383 NA 0.39 0.401512 0.337267 NA 0.457 NA 9.1753214 735 19 14862430 14862430 C G exonic EMR2 NA nonsynonymous SNV EMR2:NM_001271052:exon14:c.G1668C:p.L556F,EMR2:NM_013447:exon16:c.G1842C:p.L614F exonic ENSG00000127507 NA nonsynonymous SNV ENSG00000127507:ENST00000595839:exon12:c.G1416C:p.L472F,ENSG00000127507:ENST00000353005:exon13:c.G1416C:p.L472F,ENSG00000127507:ENST00000594076:exon13:c.G1563C:p.L521F,ENSG00000127507:ENST00000353876:exon14:c.G1563C:p.L521F,ENSG00000127507:ENST00000392965:exon14:c.G1668C:p.L556F,ENSG00000127507:ENST00000594294:exon14:c.G1695C:p.L565F,ENSG00000127507:ENST00000346057:exon15:c.G1695C:p.L565F,ENSG00000127507:ENST00000596991:exon15:c.G1809C:p.L603F,ENSG00000127507:ENST00000601345:exon15:c.G1809C:p.L603F,ENSG00000127507:ENST00000315576:exon16:c.G1842C:p.L614F,ENSG00000127507:ENST00000392967:exon16:c.G1809C:p.L603F Score=433;Name=lod=77 NA 19p13.12 NA NA NA NA rs2524383 0.77 0.77 0.773 0.816494 0.7207 0.8274 0.6571 0.9297 0.864 0.73 0.77 0.65 0.91 0.7371 0.91 1 T 0.0 B 0.0 B . . 0.000 P -2.875 N 1.91 T -0.992 T 0.000 T 0.609 -0.359 2.307 3.57 1.078 1.820 7.749 -0.358782 NA 1 0.702442 0.902633 NA 0.739 NA 9.1730914 735 2 152331418 152331418 C G exonic RIF1 NA nonsynonymous SNV RIF1:NM_001177665:exon34:c.C7174G:p.L2392V,RIF1:NM_001177663:exon35:c.C7174G:p.L2392V,RIF1:NM_001177664:exon35:c.C7174G:p.L2392V,RIF1:NM_018151:exon36:c.C7252G:p.L2418V exonic ENSG00000080345 NA nonsynonymous SNV ENSG00000080345:ENST00000430328:exon34:c.C7174G:p.L2392V,ENSG00000080345:ENST00000243326:exon35:c.C7252G:p.L2418V,ENSG00000080345:ENST00000428287:exon35:c.C7174G:p.L2392V,ENSG00000080345:ENST00000453091:exon35:c.C7174G:p.L2392V,ENSG00000080345:ENST00000444746:exon36:c.C7252G:p.L2418V NA NA 2q23.3 NA NA Name=2 NA rs1065177 0.72 0.72 0.709 0.656749 0.7256 0.7599 0.7378 0.5734 0.5348 0.71 0.79 0.75 0.63 0.707 0.79 1 T 0.001 B 0.003 B 0.134 N 1.000 P 0 N 2.88 T -1.010 T 0.000 T 0.184 -1.899 0.008 -6.16 -1.793 -2.113 5.004 -1.898981 NA 1 0.728658 0.58965 NA 0.783 NA 9.1720754 735 11 27362257 27362257 T C exonic CCDC34 NA nonsynonymous SNV CCDC34:NM_030771:exon5:c.A893G:p.N298S exonic ENSG00000109881 NA nonsynonymous SNV ENSG00000109881:ENST00000328697:exon5:c.A893G:p.N298S Score=525;Name=lod=181 NA 11p14.1 NA NA NA NA rs80317617 0.03 0.03 0.022 0.0209665 0.0547 0.004 0.0389 0.0091 0.0072 0.06 NA 0.05 0.0041 0.0488 0.06 0.26 T 0.17 B 0.047 B 0.031 N 0.000 P 0.83 L 2.63 T -1.020 T 0.003 T 0.039 2.629 14.75 3.19 0.337 0.704 8.162 2.629292 2.629292 0.51 0.058269 0.016576 NA 0.022 NA 9.1715644 735 19 42213744 42213744 T C exonic CEACAM5 NA synonymous SNV CEACAM5:NM_004363:exon2:c.T210C:p.G70G exonic ENSG00000105388,ENSG00000267881 NA synonymous SNV ENSG00000105388:ENST00000221992:exon2:c.T210C:p.G70G,ENSG00000105388:ENST00000398599:exon2:c.T210C:p.G70G,ENSG00000105388:ENST00000405816:exon2:c.T210C:p.G70G,ENSG00000267881:ENST00000598976:exon2:c.T210C:p.G70G NA NA 19q13.2 NA NA NA NA rs10402825 0.13 0.13 0.124 0.137181 0.1958 NA 0.0922 0.3056 0.0225 0.18 NA 0.1 0.23 0.1394 0.3 . . . . . . . . 1.000 P . . . . . . . . . 1.549 11.13 -6.19 -2.845 -2.408 4.807 1.548573 1.548573 NA 0.161512 0.300045 NA 0.203 NA 9.1699546 735 1 183617105 183617105 A G exonic APOBEC4 NA nonsynonymous SNV APOBEC4:NM_203454:exon2:c.T812C:p.F271S exonic ENSG00000173627 NA nonsynonymous SNV ENSG00000173627:ENST00000308641:exon2:c.T812C:p.F271S NA NA 1q25.3 NA NA Name=8 NA rs1174658 0.36 0.36 0.346 0.370208 0.4006 0.244 0.3473 0.4932 0.319 0.4 0.19 0.39 0.48 0.368 0.48 0.38 T 0.0 B 0.0 B 0.035 N 1.000 P -1.87 N 2.91 T -0.969 T 0.000 T 0.033 -1.373 0.026 4.55 0.918 1.385 8.190 -1.372911 NA NA 0.395465 0.46936 ID=COSM424777;OCCURENCE=1(breast) 0.42 NA 9.1692684 735 6 150067675 150067675 A G UTR5 NUP43 NM_198887:c.-44T>C NA NA exonic ENSG00000120253 NA nonsynonymous SNV ENSG00000120253:ENST00000367403:exon1:c.T140C:p.V47A Score=265;Name=lod=16 NA 6q25.1 NA Name=NF-YB,HNF4G_(SC-6558),CTCF_(C-20),ZBTB7A_(SC-34508),GR,c-Myc,ELF1_(SC-631),FOXA1_(SC-101058),FOXA2_(SC-6554),HEY1,ZEB1_(SC-25388),NFKB,TBP,IRF1,GTF2F1_(RAP-74),CHD2_(N-1250),CTCF,p300,E2F4,FOXA1_(C-20),GABP,ZBTB33,TAF1,Pol2(b),FOSL2,ETS1,E2F6_(H-50),NF-YA,YY1_(C-20),HA-E2F1,Sin3Ak-20,BCLAF1_(M33-P5B11),KAP1,ZNF263,eGFP-JunD,E2F6,c-Fos,Pol2-4H8,Pol2,RFX5_(N-494),NRSF,SP1,Pol2(phosphoS2),YY1,Egr-1 Name=148 NA rs10872646 0.56 0.56 0.506 0.542133 0.3579 0.8234 0.6369 0.5386 0.3793 0.35 0.8 0.6 0.57 0.4451 0.8 0.19 T . . . . 0.215 N 0.000 P . . . . -1.066 T 0.064 T 0.116 -0.132 3.355 2.84 0.288 0.393 6.104 -0.131675 NA 0.2 0.363023 0.498638 NA 0.58 NA 9.1673104 735 17 78079597 78079597 A G exonic GAA NA nonsynonymous SNV GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R exonic ENSG00000171298 NA nonsynonymous SNV ENSG00000171298:ENST00000302262:exon3:c.A596G:p.H199R,ENSG00000171298:ENST00000570803:exon3:c.A596G:p.H199R,ENSG00000171298:ENST00000390015:exon4:c.A596G:p.H199R,ENSG00000171298:ENST00000577106:exon4:c.A596G:p.H199R NA NA 17q25.3 NA NA Name=43 NA rs1042393 0.62 0.62 0.572 0.600839 0.7535 0.5437 0.5418 0.5212 0.6524 0.75 0.57 0.55 0.51 0.6746 0.75 0.71 T 0.0 B 0.0 B 0.263 N 1.000 P -2.92 N -1.81 D -0.892 T 0.000 T 0.174 -1.608 0.013 -2.36 -0.605 -0.217 12.466 -1.607992 NA 0.49 0.738256 0.544258 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078183.2;CLNDSDB=.;CLNDSDBID=. 9.1669774 735 20 44184375 44184375 T C exonic WFDC8 NA nonsynonymous SNV WFDC8:NM_130896:exon4:c.A410G:p.N137S,WFDC8:NM_181510:exon4:c.A410G:p.N137S exonic ENSG00000158901 NA nonsynonymous SNV ENSG00000158901:ENST00000289953:exon4:c.A410G:p.N137S,ENSG00000158901:ENST00000357199:exon4:c.A410G:p.N137S NA NA 20q13.12 NA NA NA NA rs2250860 0.29 0.29 0.29 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 0.3499 0.41 1 T 0.001 B 0.001 B 0.632 N 1.000 P -1.565 N 0.71 T -1.024 T 0.000 T 0.006 -1.215 0.065 -4.39 -1.210 -1.703 6.978 -1.21545 NA 1 0.414884 0.374489 NA 0.413 NA 9.1669494 736 2 48018081 48018081 A G exonic MSH6 NA synonymous SNV MSH6:NM_000179:exon2:c.A276G:p.P92P exonic ENSG00000116062 NA synonymous SNV ENSG00000116062:ENST00000234420:exon2:c.A276G:p.P92P,ENSG00000116062:ENST00000445503:exon2:c.A276G:p.P92P Score=642;Name=lod=540 NA 2p16.3 Score=799;Name=V$OLF1_01 NA Name=10 NA rs1800932 0.1 0.1 0.09 0.0866613 0.1789 NA 0.121 0.084 0.0603 0.18 NA 0.14 0.08 0.1349 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.240136 1.240136 NA 0.190233 0.116432 NA 0.145 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified;CLNREVSTAT=exp|mult;CLNACC=RCV000030265.2|RCV000035321.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.;CLNDSDBID=NBK1211:C0009405:315058005|. 9.1626336 736 21 37444696 37444696 C T ncRNA_intronic LOC100133286 NA NA NA exonic ENSG00000159228 NA nonsynonymous SNV ENSG00000159228:ENST00000399191:exon3:c.C622T:p.R208W NA NA 21q22.12 NA NA NA NA rs2835265 0.13 0.13 0.12 0.126398 0.0875 0.2133 0.1772 0.0076 0.2014 0.1 0.25 0.16 0.02 0.1362 0.25 0 D . . . . . . 1.000 P . . -1.02 T -1.012 T 0.000 T 0.043 -0.277 2.674 -6.03 -1.807 0.635 1.206 -0.276955 NA NA 0.117326 0.024739 NA 0.072 NA 9.158974 736 1 201184878 201184878 C A exonic IGFN1 NA nonsynonymous SNV IGFN1:NM_001164586:exon15:c.C9207A:p.S3069R exonic ENSG00000163395 NA nonsynonymous SNV ENSG00000163395:ENST00000295591:exon15:c.C687A:p.S229R,ENSG00000163395:ENST00000335211:exon15:c.C9207A:p.S3069R NA NA 1q32.1 NA NA NA NA rs61743921 0.03 0.03 0.028 0.0219649 0.0517 NA 0.0447 0.0076 0.0174 0.05 NA 0.05 0.02 0.0544 0.069 . . 0.724 P 0.686 P 0.006 N 0.755 N 1.9 L 0.95 T -1.063 T 0.016 T 0.497 2.309 13.68 -0.489 -0.108 -1.017 10.630 2.308775 2.308775 0.03 0.068488 0.019065 NA 0.014 NA 9.1587454 736 1 1266738 1266738 G A exonic TAS1R3 NA nonsynonymous SNV TAS1R3:NM_152228:exon1:c.G13A:p.A5T exonic ENSG00000169962 NA nonsynonymous SNV ENSG00000169962:ENST00000339381:exon1:c.G13A:p.A5T NA NA 1p36.33 NA NA NA NA rs76755863 0.03 0.03 0.029 0.0189696 0.0626 NA 0.0231 0.0053 0.0092 0.07 NA 0.03 0.0041 0.048 0.07 0.44 T 0.079 B 0.021 B 0.696 U 1.000 N 0 N -2.47 D -0.925 T 0.043 T 0.022 2.587 14.61 -2.24 -0.202 0.098 1.114 2.587031 2.587031 0.04 0.065105 0.013434 NA NA NA 9.1576284 736 6 29576393 29576393 A G exonic GABBR1 NA synonymous SNV GABBR1:NM_021903:exon11:c.T1626C:p.F542F,GABBR1:NM_021904:exon15:c.T1791C:p.F597F,GABBR1:NM_001470:exon16:c.T1977C:p.F659F exonic ENSG00000204681 NA synonymous SNV ENSG00000204681:ENST00000355973:exon11:c.T1626C:p.F542F,ENSG00000204681:ENST00000377012:exon11:c.T1626C:p.F542F,ENSG00000204681:ENST00000377016:exon15:c.T1791C:p.F597F,ENSG00000204681:ENST00000377034:exon16:c.T1977C:p.F659F Score=483;Name=lod=122 NA 6p22.1 NA NA NA NA rs29230 0.17 0.17 0.145 0.213259 0.1531 0.252 0.2017 0.1467 0.3333 0.14 0.24 0.15 0.14 0.1843 0.24 . . . . . . . . 0.000 P . . . . -1.072 T 0.060 T . 0.99 9.044 2.66 0.541 2.255 6.844 0.990308 NA NA 0.172637 0.160821 ID=COSM451139;OCCURENCE=1(breast) 0.188 NA 9.1566296 736 1 144866662 144866662 T C exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001198834:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_014644:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_001198832:exon36:c.A5262G:p.E1754E exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000369354:exon34:c.A5580G:p.E1860E,ENSG00000178104:ENST00000369356:exon34:c.A5580G:p.E1860E,ENSG00000178104:ENST00000313382:exon36:c.A5262G:p.E1754E,ENSG00000178104:ENST00000530740:exon36:c.A5835G:p.E1945E,ENSG00000178104:ENST00000369359:exon37:c.A5988G:p.E1996E Score=597;Name=lod=357 NA 1q21.1 Score=799;Name=V$OLF1_01 NA NA NA rs1064044 0.53 0.53 0.545 NA NA NA NA NA NA 0.5 0.61 0.51 0.5 0.5103 0.61 . . . . . . . . 0.000 P . . . . -1.075 T 0.055 T . 1.473 10.87 2.05 0.354 0.268 6.847 1.472556 1.472556 NA NA NA NA 0.507 NA 9.1563666 737 5 7835555 7835555 C G exonic C5orf49 NA nonsynonymous SNV C5orf49:NM_001089584:exon2:c.G204C:p.Q68H exonic ENSG00000215217 NA nonsynonymous SNV ENSG00000215217:ENST00000399810:exon2:c.G204C:p.Q68H,ENSG00000215217:ENST00000509627:exon2:c.G204C:p.Q68H Score=448;Name=lod=88 NA 5p15.31 NA NA NA NA rs6883562 0.17 0.17 0.175 0.177316 0.2217 0.0972 0.1715 0.1762 0.2198 0.22 0.09 0.19 0.18 0.2134 0.24 0.08 T 0.965 D 0.471 P . . 0.838 P 1.7 L 1.47 T -1.035 T 0.000 T 0.179 3.006 16.02 1.68 0.625 0.512 5.371 3.005516 3.005516 0.08 0.243756 0.202799 NA 0.217 NA 9.1544774 737 9 115932012 115932012 G T exonic FKBP15 NA nonsynonymous SNV FKBP15:NM_015258:exon26:c.C2977A:p.P993T exonic ENSG00000119321 NA nonsynonymous SNV ENSG00000119321:ENST00000238256:exon26:c.C2977A:p.P993T,ENSG00000119321:ENST00000446284:exon26:c.C3052A:p.P1018T NA NA 9q32 NA NA NA NA rs57348436 0.04 0.04 0.037 0.0613019 0.0467 0.0387 0.0317 0.0363 0.1544 0.04 0.02 0.03 0.04 0.0694 0.12 0.05 D 0.253 B 0.128 B . . 1.000 N 1.61 L 1.6 T -1.058 T 0.009 T 0.044 1.167 9.749 2.72 0.532 -0.337 6.219 1.167001 NA 0.02 0.063213 0.045695 NA 0.087 NA 9.1540204 737 1 221055463 221055463 G A intronic HLX NA NA NA exonic ENSG00000136630 NA nonsynonymous SNV ENSG00000136630:ENST00000549319:exon1:c.G88A:p.G30S NA NA 1q41 NA NA NA NA rs2247213 0.29 0.29 0.31 0.298922 0.34 0.0962 0.2911 0.4675 0.2434 0.34 0.1 0.27 0.45 0.3211 0.48 0.2 T . . . . . . 1.000 P . . -2.84 D -1.060 T 0.000 T 0.021 1.593 11.28 -3.56 -1.254 -3.795 6.717 1.592851 1.592851 NA 0.352257 0.427826 NA 0.442 NA 9.1533097 737 6 31540757 31540757 A C exonic LTA NA nonsynonymous SNV LTA:NM_000595:exon3:c.A152C:p.H51P,LTA:NM_001159740:exon3:c.A152C:p.H51P exonic ENSG00000226979 NA nonsynonymous SNV ENSG00000226979:ENST00000418386:exon3:c.A152C:p.H51P,ENSG00000226979:ENST00000454783:exon3:c.A152C:p.H51P NA NA 6p21.33 NA NA Name=2 NA rs2229092 0.03 0.03 0.039 0.0269569 0.0616 0.0129 0.0331 0.0038 0.0327 0.06 0.02 0.04 0.01 0.0485 0.07 0.27 T 0.0 B 0.001 B 0.587 N 1.000 N 0.805 L 2.28 T -0.940 T 0.008 T 0.084 -0.176 3.141 -2.81 -0.226 0.011 0.152 -0.1764 NA 0.34 0.070137 0.014229 NA 0.036 NA 9.1530964 737 14 20852267 20852267 C T exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon24:c.G3464A:p.R1155Q exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000555008:exon12:c.G1514A:p.R505Q,ENSG00000129566:ENST00000556935:exon22:c.G3140A:p.R1047Q,ENSG00000129566:ENST00000262715:exon24:c.G3464A:p.R1155Q,ENSG00000129566:ENST00000555727:exon24:c.G3464A:p.R1155Q Score=395;Name=lod=54 NA 14q11.2 Score=832;Name=V$AP4_01 NA NA NA rs2228041 0.03 0.03 0.034 0.0335463 0.0686 NA 0.0303 0.003 0.0757 0.08 NA 0.02 NA 0.0523 0.08 1 T 0.002 B 0.001 B 0.062 N 0.000 P -1.445 N -1.47 T -1.008 T 0.008 T 0.08 -1.497 0.017 0.586 -0.147 0.476 4.184 -1.496953 NA 1 0.061744 0.011348 NA 0.007 NA 9.1506894 737 15 31294343 31294343 A T exonic TRPM1 NA nonsynonymous SNV TRPM1:NM_001252020:exon27:c.T4611A:p.H1537Q,TRPM1:NM_002420:exon27:c.T4494A:p.H1498Q,TRPM1:NM_001252024:exon28:c.T4560A:p.H1520Q exonic ENSG00000134160 NA nonsynonymous SNV ENSG00000134160:ENST00000558768:exon25:c.T4266A:p.H1422Q,ENSG00000134160:ENST00000397795:exon27:c.T4494A:p.H1498Q,ENSG00000134160:ENST00000542188:exon27:c.T4611A:p.H1537Q,ENSG00000134160:ENST00000256552:exon28:c.T4560A:p.H1520Q NA NA 15q13.3 NA NA NA NA rs12898290 0.05 0.05 0.037 0.0682907 0.0616 0.0169 0.049 0.0772 0.1299 0.05 0.02 0.07 0.07 0.0653 0.075 0.17 T 0.0 B 0.002 B 0.661 N 1.000 N -0.145 N 0.95 T -1.039 T 0.002 T 0.036 -1.862 0.008 -10.3 -4.828 -4.635 1.865 -1.862085 NA 0.3 0.056007 0.075476 NA 0.051 NA 9.1504264 737 12 52967117 52967117 C T exonic KRT74 NA nonsynonymous SNV KRT74:NM_175053:exon1:c.G445A:p.D149N exonic ENSG00000170484 NA nonsynonymous SNV ENSG00000170484:ENST00000305620:exon1:c.G445A:p.D149N,ENSG00000170484:ENST00000549343:exon1:c.G445A:p.D149N Score=461;Name=lod=100 NA 12q13.13 NA NA NA NA rs73107581 0.07 0.07 0.047 0.048722 0.0795 0.0972 0.036 0.0151 0.0215 0.08 0.11 0.05 0.02 0.0495 0.11 1 T 0.001 B 0.004 B 0.283 N 0.791 P -1.52 N -2.94 D -0.866 T 0.009 T 0.018 -0.686 1.016 1.88 0.322 0.554 6.933 -0.686496 NA 1 0.054419 0.017022 NA 0.065 NA 9.1499144 737 14 96777468 96777468 G C exonic ATG2B NA nonsynonymous SNV ATG2B:NM_018036:exon28:c.C4147G:p.Q1383E exonic ENSG00000066739 NA nonsynonymous SNV ENSG00000066739:ENST00000359933:exon28:c.C4147G:p.Q1383E NA NA 14q32.2 NA NA Name=3 NA rs3759601 0.3 0.3 0.258 0.2498 0.4066 0.1776 0.4568 0.1142 0.1994 0.42 0.21 0.44 0.1 0.3552 0.44 1 T 0.001 B 0.004 B 0.306 N 1.000 P 1.265 L 0.93 T -0.944 T 0.000 T 0.045 0.228 5.23 2.55 0.241 1.403 8.827 0.228002 NA 0.95 0.422558 0.171357 NA 0.312 NA 9.1489754 737 7 4213975 4213975 A G exonic SDK1 NA nonsynonymous SNV SDK1:NM_001079653:exon7:c.A383G:p.H128R,SDK1:NM_152744:exon33:c.A4922G:p.H1641R exonic ENSG00000146555 NA nonsynonymous SNV ENSG00000146555:ENST00000389531:exon33:c.A4922G:p.H1641R,ENSG00000146555:ENST00000404826:exon33:c.A4922G:p.H1641R Score=420;Name=lod=68 NA 7p22.2 NA NA NA NA rs671694 0.8 0.8 0.804 0.799321 0.7266 0.7619 0.781 0.9803 0.681 0.73 0.76 0.79 0.97 0.7525 0.97 0.81 T 0.0 B 0.001 B 0.001 N 1.000 P -1.935 N 0.55 T -0.963 T 0.000 T 0.28 -0.569 1.436 4.91 1.073 3.076 11.761 -0.568836 NA 0.71 0.706395 0.943259 NA 0.819 NA 9.1478384 737 9 116132092 116132092 G C exonic BSPRY NA nonsynonymous SNV BSPRY:NM_017688:exon6:c.G879C:p.Q293H exonic ENSG00000119411 NA nonsynonymous SNV ENSG00000119411:ENST00000374183:exon6:c.G879C:p.Q293H Score=607;Name=lod=390 NA 9q32 NA NA NA NA rs818711 0.05 0.05 0.056 0.0601038 0.0646 0.0734 0.0476 0.0045 0.1258 0.06 0.08 0.05 0.01 0.0635 0.08 0.01 D 0.009 B 0.006 B 0.001 N 0.960 P 1.04 L 2.55 T -1.062 T 0.002 T 0.044 1.815 12.03 1.49 0.255 0.918 4.800 1.814651 1.814651 0.11 0.058042 0.013599 NA 0.036 NA 9.1471914 737 7 57529392 57529392 A C exonic ZNF716 NA nonsynonymous SNV ZNF716:NM_001159279:exon4:c.A1225C:p.K409Q exonic ENSG00000182111 NA nonsynonymous SNV ENSG00000182111:ENST00000420713:exon4:c.A1225C:p.K409Q Score=443;Name=lod=84 NA 7p11.2 NA Name=KAP1,ZNF274 NA NA rs13235676 0.41 0.41 0.369 0.421126 0.3797 0.5397 0.4798 0.3215 0.4346 0.37 0.54 0.44 0.33 0.4139 0.54 0.09 T 0.407 B 0.119 B . . 1.000 P 1.74 L 2.19 T -0.937 T 0.000 T 0.021 0.727 7.864 0.195 0.257 -2.138 4.823 0.726705 NA 0.06 0.393149 0.346098 NA 0.449 NA 9.1465844 737 7 37947164 37947164 G T exonic SFRP4 NA nonsynonymous SNV SFRP4:NM_003014:exon6:c.C958A:p.P320T exonic ENSG00000106483 NA nonsynonymous SNV ENSG00000106483:ENST00000436072:exon6:c.C958A:p.P320T Score=300;Name=lod=22 NA 7p14.1 Score=808;Name=V$COMP1_01 NA NA NA rs1802073 0.51 0.51 0.478 0.542732 0.3877 0.5635 0.5519 0.6339 0.5511 0.39 0.54 0.52 0.63 0.4382 0.63 1 T 0.0 B 0.0 B 0.394 N 0.000 P 0.345 N 0.01 T -0.915 T 0.000 T 0.069 1.667 11.53 3.05 0.371 0.326 4.467 1.667161 1.667161 0.69 0.361163 0.567635 NA 0.551 NA 9.1462704 738 20 56099114 56099114 C G exonic CTCFL NA nonsynonymous SNV CTCFL:NM_001269041:exon1:c.G148C:p.E50Q,CTCFL:NM_001269044:exon1:c.G148C:p.E50Q,CTCFL:NM_001269048:exon1:c.G148C:p.E50Q,CTCFL:NM_001269052:exon1:c.G148C:p.E50Q,CTCFL:NM_001269040:exon2:c.G148C:p.E50Q,CTCFL:NM_001269042:exon2:c.G148C:p.E50Q,CTCFL:NM_001269043:exon2:c.G148C:p.E50Q,CTCFL:NM_001269045:exon2:c.G148C:p.E50Q,CTCFL:NM_001269046:exon2:c.G148C:p.E50Q,CTCFL:NM_001269047:exon2:c.G148C:p.E50Q,CTCFL:NM_001269051:exon2:c.G148C:p.E50Q,CTCFL:NM_080618:exon3:c.G148C:p.E50Q exonic ENSG00000124092 NA nonsynonymous SNV ENSG00000124092:ENST00000422109:exon1:c.G148C:p.E50Q,ENSG00000124092:ENST00000426658:exon1:c.G148C:p.E50Q,ENSG00000124092:ENST00000432255:exon1:c.G148C:p.E50Q,ENSG00000124092:ENST00000433949:exon1:c.G148C:p.E50Q,ENSG00000124092:ENST00000243914:exon2:c.G148C:p.E50Q,ENSG00000124092:ENST00000371196:exon2:c.G148C:p.E50Q,ENSG00000124092:ENST00000422869:exon2:c.G148C:p.E50Q,ENSG00000124092:ENST00000423479:exon2:c.G148C:p.E50Q,ENSG00000124092:ENST00000429804:exon2:c.G148C:p.E50Q NA NA 20q13.31 NA Name=HEY1 NA NA rs6070128 0.32 0.32 0.291 0.285144 0.4165 0.3651 0.2882 0.0862 0.3344 0.41 0.38 0.32 0.09 0.3644 0.41 0.39 T 0.012 B 0.007 B 0.522 N 1.000 P 0 N 3.39 T -0.903 T 0.000 T 0.038 0.495 6.687 -4.73 -1.292 -0.230 9.003 0.495343 NA 0.18 0.408488 0.128234 ID=COSM1412683;OCCURENCE=1(large_intestine) 0.268 NA 9.1439454 738 22 32754103 32754103 A C exonic RFPL3 NA nonsynonymous SNV RFPL3:NM_001098535:exon1:c.A45C:p.Q15H exonic ENSG00000128276 NA nonsynonymous SNV ENSG00000128276:ENST00000249007:exon1:c.A45C:p.Q15H NA NA 22q12.3 NA NA NA NA rs58637580 0.14 0.14 0.09 0.144569 0.0408 0.4583 0.0893 0.0265 0.1268 0.04 0.4 0.09 0.01 0.1002 0.4 1 T 0.0 B 0.0 B . . 1.000 P 0.345 N 0.66 T -0.977 T 0.000 T 0.023 -1.043 0.203 -1.26 -1.119 -2.692 1.424 -1.042871 NA 1 0.048616 0.031321 NA 0.087 NA 9.1437174 738 7 94540416 94540416 A G exonic PPP1R9A NA nonsynonymous SNV PPP1R9A:NM_001166161:exon1:c.A991G:p.M331V,PPP1R9A:NM_001166162:exon1:c.A991G:p.M331V,PPP1R9A:NM_001166163:exon1:c.A991G:p.M331V,PPP1R9A:NM_001166160:exon2:c.A991G:p.M331V,PPP1R9A:NM_017650:exon2:c.A991G:p.M331V exonic ENSG00000158528 NA nonsynonymous SNV ENSG00000158528:ENST00000289495:exon1:c.A991G:p.M331V,ENSG00000158528:ENST00000456331:exon1:c.A991G:p.M331V,ENSG00000158528:ENST00000340694:exon2:c.A991G:p.M331V,ENSG00000158528:ENST00000424654:exon2:c.A991G:p.M331V,ENSG00000158528:ENST00000433360:exon2:c.A991G:p.M331V,ENSG00000158528:ENST00000433881:exon2:c.A991G:p.M331V NA NA 7q21.3 Score=845;Name=V$PPARG_03 NA NA NA rs10230714 0.16 0.16 0.172 0.199481 0.0507 0.2183 0.1455 0.3525 0.1646 0.04 0.2 0.13 0.33 0.0981 0.33 . . 0.0 B 0.001 B 0.074 N 1.000 P 0.145 N -3.22 D -1.080 T 0.000 T 0.036 -1.732 0.011 0.326 -0.028 0.585 5.168 -1.732466 NA 0.46 0.04186 0.32138 NA 0.203 NA 9.1426734 738 1 55060362 55060362 G A exonic ACOT11 NA nonsynonymous SNV ACOT11:NM_015547:exon6:c.G605A:p.G202D,ACOT11:NM_147161:exon6:c.G605A:p.G202D exonic ENSG00000162390 NA nonsynonymous SNV ENSG00000162390:ENST00000343744:exon6:c.G605A:p.G202D,ENSG00000162390:ENST00000371316:exon6:c.G605A:p.G202D NA NA 1p32.3 NA NA NA NA rs1702003 0.19 0.19 0.195 0.255391 0.0417 0.1825 0.1239 0.5371 0.2628 0.04 0.18 0.11 0.48 0.1194 0.48 0.89 T 0.0 B 0.001 B 0.184 N 1.000 P -1.61 N 3.01 T -0.944 T 0.000 T 0.108 -0.567 1.445 3.7 0.297 1.962 6.005 -0.566615 NA 0.93 0.029651 0.448479 NA 0.181 NA 9.1425824 738 6 31322980 31322980 C T exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon5:c.G916A:p.V306I exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000412585:exon5:c.G916A:p.V306I NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 NA NA rs1131500 0.49 0.49 0.508 0.544529 0.3857 0.5744 0.5 0.6604 0.5521 0.37 0.53 0.5 0.63 0.4472 0.63 1 T 0.002 B 0.002 B 0.128 N 1.000 P . . 6.13 T -0.968 T 0.000 T 0.131 0.842 8.403 -3.9 -0.635 -1.343 3.076 0.842479 NA 1 0.358066 0.576109 NA 0.5 NA 9.1423674 738 2 233245026 233245026 G A exonic ALPP NA nonsynonymous SNV ALPP:NM_001632:exon6:c.G788A:p.R263H exonic ENSG00000163283 NA nonsynonymous SNV ENSG00000163283:ENST00000392027:exon6:c.G788A:p.R263H NA NA 2q37.1 Score=778;Name=V$MYCMAX_03 NA NA NA rs2853378 0.1 0.1 NA 0.10004 0.1004 0.2242 0.0605 0.0507 0.0665 0.09 0.19 0.06 0.04 0.0915 0.19 0.93 T 0.007 B 0.001 B 0.991 N 1.000 P -0.53 N -4.04 D -0.828 T 0.002 T 0.093 -1.655 0.012 -0.177 0.135 0.146 7.139 -1.655324 NA 0.55 NA NA NA 0.043 NA 9.1414334 738 13 25052393 25052393 G T exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon13:c.C1470A:p.H490Q exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon13:c.C1470A:p.H490Q Score=505;Name=lod=150 NA 13q12.12 Score=679;Name=V$BRACH_01 NA NA NA rs79107024 0.13 0.13 0.158 NA NA NA NA NA NA 0.14 0.06 0.12 0.2 0.1932 0.2 0.51 T 0.011 B 0.009 B 0.789 N 0.996 N 1.865 L 2.59 T -0.934 T 0.000 T 0.13 -0.136 3.333 -0.744 -0.008 -0.111 3.671 -0.136204 NA 0.08 NA NA NA NA NA 9.1401334 738 8 36767024 36767024 T C exonic KCNU1 NA nonsynonymous SNV KCNU1:NM_001031836:exon21:c.T2302C:p.W768R exonic ENSG00000215262 NA nonsynonymous SNV ENSG00000215262:ENST00000399881:exon21:c.T2302C:p.W768R,ENSG00000215262:ENST00000522372:exon21:c.T2302C:p.W768R Score=614;Name=lod=417 NA 8p11.23 NA NA NA NA rs28608091 0.37 0.37 0.341 0.379792 0.4006 0.376 0.4827 0.3268 0.3609 0.39 0.35 0.47 0.29 0.3942 0.47 0.89 T 0.0 B 0.0 B 0.071 N 0.000 P -0.92 N 1.06 T -0.919 T 0.000 T 0.097 -0.731 0.875 2.64 0.356 1.370 8.636 -0.730645 NA 1 0.398702 0.335516 NA 0.246 NA 9.1398314 738 12 6619284 6619284 C G exonic NCAPD2 NA nonsynonymous SNV NCAPD2:NM_014865:exon4:c.C247G:p.Q83E exonic ENSG00000010292 NA nonsynonymous SNV ENSG00000010292:ENST00000315579:exon4:c.C247G:p.Q83E,ENSG00000010292:ENST00000539714:exon5:c.C247G:p.Q83E Score=546;Name=lod=221 NA 12p13.31 NA NA NA NA rs714774 0.79 0.79 0.79 0.795527 0.7256 0.6706 0.8285 0.9826 0.7198 0.73 0.67 0.82 0.98 0.7536 0.98 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.735 N 1.17 T -0.942 T 0.000 T 0.062 -0.066 3.678 5.32 1.260 3.727 14.549 -0.066079 NA 1 0.716163 0.942805 NA 0.826 NA 9.1379704 738 16 74664743 74664743 T C exonic RFWD3 NA nonsynonymous SNV RFWD3:NM_018124:exon10:c.A1690G:p.I564V exonic ENSG00000168411 NA nonsynonymous SNV ENSG00000168411:ENST00000361070:exon10:c.A1690G:p.I564V,ENSG00000168411:ENST00000571750:exon11:c.A1690G:p.I564V Score=278;Name=lod=18 NA 16q23.1 NA NA NA NA rs7193541 0.42 0.42 0.414 0.392772 0.3936 0.4613 0.2896 0.5166 0.227 0.39 0.43 0.32 0.53 0.381 0.53 0.71 T 0.008 B 0.005 B 0.000 N 0.092 P 0.15 N 1.55 T -0.928 T 0.000 T 0.125 1.004 9.1 3.41 0.941 1.552 7.678 1.00395 NA 0.74 0.422907 0.509554 ID=COSM148117;OCCURENCE=1(stomach) 0.428 NA 9.1358264 739 19 56369189 56369189 G A exonic NLRP4 NA nonsynonymous SNV NLRP4:NM_134444:exon3:c.G430A:p.A144T exonic ENSG00000160505 NA nonsynonymous SNV ENSG00000160505:ENST00000587891:exon1:c.G205A:p.A69T,ENSG00000160505:ENST00000301295:exon3:c.G430A:p.A144T,ENSG00000160505:ENST00000346986:exon3:c.G430A:p.A144T,ENSG00000160505:ENST00000587464:exon3:c.G430A:p.A144T NA NA 19q13.43 NA NA NA NA rs441827 0.48 0.48 0.456 0.515775 0.3827 0.6657 0.464 0.4463 0.6288 0.39 0.66 0.49 0.39 0.4464 0.66 0.74 T 0.0 B 0.0 B . . 1.000 P -0.805 N -1.52 D -1.048 T 0.000 T 0.013 -1.268 0.046 -6.89 -2.679 -0.507 9.486 -1.267515 NA 1 0.369767 0.433273 NA 0.42 NA 9.1344664 739 19 4442336 4442336 C T exonic CHAF1A NA nonsynonymous SNV CHAF1A:NM_005483:exon14:c.C2768T:p.A923V exonic ENSG00000167670 NA nonsynonymous SNV ENSG00000167670:ENST00000589648:exon1:c.C86T:p.A29V,ENSG00000167670:ENST00000301280:exon14:c.C2768T:p.A923V Score=300;Name=lod=22 NA 19p13.3 NA Name=ZNF263,Pol2-4H8 NA NA rs9352 0.57 0.57 0.542 0.567891 0.5427 0.6657 0.7507 0.4191 0.5644 0.53 0.66 0.72 0.44 0.5994 0.72 0 D 0.665 P 0.073 B . . 0.000 P 0.69 N 1.94 T -1.025 T 0.000 T 0.046 2.842 15.47 0.092 0.178 0.240 6.789 2.842317 2.842317 0.17 0.557442 0.443713 NA 0.514 NA 9.1337914 739 11 4870261 4870261 G C exonic OR51S1 NA nonsynonymous SNV OR51S1:NM_001004758:exon1:c.C178G:p.Q60E exonic ENSG00000176922 NA nonsynonymous SNV ENSG00000176922:ENST00000322101:exon1:c.C178G:p.Q60E NA NA 11p15.4 NA Name=CTCF NA NA rs11602499 0.26 0.26 0.256 0.274161 0.4066 0.0675 0.2579 0.2352 0.4151 0.4 0.06 0.33 0.25 0.3647 0.43 1 T 0.0 B 0.0 B 0.019 N 1.000 P -1.96 N 4.19 T -0.945 T 0.000 T 0.017 -2.537 0.003 4.85 1.277 0.343 14.146 -2.537173 NA 1 0.430433 0.281009 NA 0.254 NA 9.1316004 739 7 142724062 142724062 C T exonic OR9A2 NA nonsynonymous SNV OR9A2:NM_001001658:exon1:c.G158A:p.R53H exonic ENSG00000179468 NA nonsynonymous SNV ENSG00000179468:ENST00000350513:exon1:c.G158A:p.R53H NA NA 7q34 Score=810;Name=V$COMP1_01 NA NA NA rs9885986 0.08 0.08 0.084 0.0876597 0.0577 0.0377 0.0548 0.1384 0.1247 0.05 0.04 0.07 0.17 0.0765 0.17 1 T 0.056 B 0.015 B 0.401 N 1.000 P 0.735 N 5.28 T -0.924 T 0.000 T 0.04 -0.258 2.76 2.31 0.506 -0.748 6.005 -0.258015 NA 0.05 0.068372 0.127326 NA 0.072 NA 9.1307614 739 12 47186770 47186770 C T exonic SLC38A4 NA nonsynonymous SNV SLC38A4:NM_001143824:exon2:c.G85A:p.G29R,SLC38A4:NM_018018:exon3:c.G85A:p.G29R exonic ENSG00000139209 NA nonsynonymous SNV ENSG00000139209:ENST00000447411:exon2:c.G85A:p.G29R,ENSG00000139209:ENST00000546940:exon2:c.G85A:p.G29R,ENSG00000139209:ENST00000266579:exon3:c.G85A:p.G29R,ENSG00000139209:ENST00000547477:exon3:c.G85A:p.G29R NA NA 12q13.11 NA Name=FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs2429467 0.12 0.12 0.076 0.136581 0.0417 0.245 0.2248 0.0129 0.227 0.04 0.25 0.22 0.01 0.1118 0.25 0.61 T 0.345 B 0.022 B 0.001 N 1.000 P 0.69 N 3.81 T -1.004 T 0.000 T 0.33 -0.672 1.062 -1.99 -1.137 0.061 8.125 -0.672454 NA 0.24 0.050698 0.031775 NA 0.087 NA 9.1291354 739 8 145112983 145112983 C T exonic OPLAH NA nonsynonymous SNV OPLAH:NM_017570:exon8:c.G1018A:p.V340I exonic ENSG00000178814 NA nonsynonymous SNV ENSG00000178814:ENST00000426825:exon8:c.G1018A:p.V340I NA NA 8q24.3 NA NA NA NA rs55916375 0.04 0.04 0.041 0.0333466 0.0835 0.001 0.0461 0.0174 0.0276 0.08 0.0017 0.05 0.02 0.0537 0.08 0.53 T 0.256 B 0.104 B 0.000 D 0.857 D . . . . -1.050 T 0.004 T 0.015 -0.452 1.905 0.388 0.291 0.061 7.577 -0.452126 NA 0.17 0.067177 0.026034 NA 0.022 NA 9.1289564 739 5 5146377 5146377 T C exonic ADAMTS16 NA nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.T310C:p.S104P exonic ENSG00000145536 NA nonsynonymous SNV ENSG00000145536:ENST00000274181:exon3:c.T310C:p.S104P,ENSG00000145536:ENST00000511368:exon3:c.T310C:p.S104P Score=361;Name=lod=39 NA 5p15.32 Score=780;Name=V$PPARG_03 Name=Pol2-4H8 NA NA rs1019747 0.51 0.51 0.485 0.494409 0.3857 0.5 0.5951 0.6248 0.3528 0.4 0.53 0.54 0.63 0.4375 0.63 0.15 T 0.0 B 0.004 B 0.010 N 0.999 P -0.55 N 3.44 T -1.024 T 0.000 T 0.03 1.879 12.24 0.125 -0.120 0.309 2.485 1.878622 1.878622 0.21 0.38138 0.569154 NA 0.558 NA 9.1287534 739 17 33464864 33464864 C T exonic NLE1 NA nonsynonymous SNV NLE1:NM_018096:exon5:c.G506A:p.R169K exonic ENSG00000073536 NA nonsynonymous SNV ENSG00000073536:ENST00000442241:exon5:c.G506A:p.R169K Score=620;Name=lod=441 NA 17q12 Score=884;Name=V$TAL1ALPHAE47_01 NA NA NA rs7215209 0.82 0.82 0.816 0.848842 0.7048 0.9137 0.8602 0.8676 0.8967 0.7 0.92 0.84 0.87 0.78 0.92 1 T 0.0 B 0.001 B 0.000 N 0.000 P -0.71 N 1.61 T -0.961 T 0.000 T 0.037 0.456 6.477 3.95 0.414 2.347 6.497 0.456156 NA 1 0.719884 0.869496 NA 0.833 NA 9.1286494 739 3 10255002 10255002 C G exonic IRAK2 NA nonsynonymous SNV IRAK2:NM_001570:exon5:c.C640G:p.R214G exonic ENSG00000134070 NA nonsynonymous SNV ENSG00000134070:ENST00000256458:exon5:c.C640G:p.R214G NA NA 3p25.3 NA Name=PAX5-C20 Name=40 NA rs35060588 0.04 0.04 0.04 0.0323482 0.0885 NA 0.0245 0.0008 0.0562 0.1 NA 0.03 NA 0.0552 0.1 0.33 T 0.002 B 0.001 B 0.352 N 1.000 P 1.465 L 1.32 T -1.054 T 0.002 T 0.065 0.255 5.381 -0.447 0.080 0.088 0.808 0.255472 NA 0.08 0.061395 0.011575 NA 0.022 NA 9.1282384 739 11 4869649 4869649 G A exonic OR51S1 NA nonsynonymous SNV OR51S1:NM_001004758:exon1:c.C790T:p.L264F exonic ENSG00000176922 NA nonsynonymous SNV ENSG00000176922:ENST00000322101:exon1:c.C790T:p.L264F NA NA 11p15.4 NA NA NA NA rs12361955 0.28 0.28 0.277 0.299321 0.4046 0.0675 0.2608 0.3411 0.4008 0.4 0.06 0.33 0.34 0.3702 0.43 0 D 0.003 B 0.007 B 0.019 N 1.000 P -0.17 N -0.74 T -0.994 T 0.000 T 0.091 0.802 8.217 3.29 1.445 0.704 8.959 0.801715 NA 0.04 0.430433 0.348705 NA 0.319 NA 9.1281004 739 7 18066569 18066569 C A exonic PRPS1L1 NA nonsynonymous SNV PRPS1L1:NM_175886:exon1:c.G837T:p.E279D exonic ENSG00000229937 NA nonsynonymous SNV ENSG00000229937:ENST00000506618:exon1:c.G837T:p.E279D Score=561;Name=lod=255 NA 7p21.1 Score=884;Name=V$EVI1_02 NA NA NA rs3800962 0.3 0.3 0.283 0.264776 0.4165 0.1548 0.3977 0.1974 0.2188 0.43 0.16 0.43 0.17 0.3658 0.43 1 T 0.0 B 0.001 B . . . . 0.31 N -0.61 T -1.022 T 0.000 T 0.023 -0.832 0.593 -2.11 -0.531 0.374 7.610 -0.832338 NA 1 0.423372 0.227851 NA 0.384 NA 9.1276614 739 17 43004436 43004436 G A exonic KIF18B NA nonsynonymous SNV KIF18B:NM_001264573:exon14:c.C2323T:p.P775S,KIF18B:NM_001265577:exon14:c.C2287T:p.P763S exonic ENSG00000186185 NA nonsynonymous SNV ENSG00000186185:ENST00000438933:exon13:c.C2323T:p.P775S,ENSG00000186185:ENST00000590129:exon13:c.C2350T:p.P784S,ENSG00000186185:ENST00000339151:exon14:c.C2296T:p.P766S,ENSG00000186185:ENST00000587309:exon14:c.C2323T:p.P775S,ENSG00000186185:ENST00000593135:exon14:c.C2287T:p.P763S NA NA 17q21.31 Score=912;Name=V$AREB6_03 NA Name=5 NA rs61739617 0.03 0.03 0.022 0.023762 0.0716 NA 0.0274 0.0045 0.0225 0.07 NA 0.03 0.01 0.0632 0.071 0.17 T 0.437 B 0.329 B . . 1.000 N 1.78 L -0.84 T -0.963 T 0.037 T 0.17 0.49 6.66 0.265 -0.044 0.279 3.068 0.490236 NA 0 0.071223 0.021503 NA 0.022 NA 9.1273104 739 17 73230963 73230963 G A intronic NUP85 NA NA NA exonic ENSG00000125450 NA nonsynonymous SNV ENSG00000125450:ENST00000447371:exon16:c.G1343A:p.R448H NA NA 17q25.1 NA NA NA NA rs2291032 0.09 0.09 0.102 0.11262 0.002 0.1002 0.0706 0.2458 0.089 0.004 0.06 0.07 0.29 0.0385 0.29 . . . . . . . . 1.000 P . . . . -0.988 T 0.000 T 0.053 1.534 11.08 -7.18 -1.986 -1.840 2.031 1.53383 1.53383 0 NA NA NA 0.123 NA 9.1261667 739 21 46086757 46086757 G A exonic KRTAP12-2 NA nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.C47T:p.A16V exonic ENSG00000221864 NA nonsynonymous SNV ENSG00000221864:ENST00000360770:exon1:c.C47T:p.A16V NA NA 21q22.3 NA Name=HA-E2F1,c-Myc Name=3 NA rs7275298 0.68 0.68 0.705 0.771565 0.7634 0.6597 0.7493 0.8608 0.7904 0.68 0.59 0.71 0.78 0.739 0.84 0.31 T 0.002 B 0.003 B . . 1.000 P -1.17 N 4.06 T -1.071 T 0.000 T 0.04 1.02 9.164 -4.35 -1.420 -0.534 6.439 1.019523 NA NA 0.705626 0.841207 NA NA NA 9.1253074 740 4 110901198 110901198 G A exonic EGF NA nonsynonymous SNV EGF:NM_001178131:exon13:c.G1998A:p.M666I,EGF:NM_001178130:exon14:c.G2124A:p.M708I,EGF:NM_001963:exon14:c.G2124A:p.M708I exonic ENSG00000138798 NA nonsynonymous SNV ENSG00000138798:ENST00000509793:exon13:c.G1998A:p.M666I,ENSG00000138798:ENST00000265171:exon14:c.G2124A:p.M708I,ENSG00000138798:ENST00000503392:exon14:c.G2124A:p.M708I Score=566;Name=lod=267 NA 4q25 Score=909;Name=V$BRN2_01 NA NA NA rs2237051 0.59 0.59 0.596 0.617812 0.3628 0.6726 0.5764 0.8759 0.5041 0.38 0.69 0.56 0.85 0.4658 0.85 0.46 T 0.0 B 0.0 B 0.002 N 1.000 P -1.425 N -2.71 D -0.944 T 0.000 T 0.086 -0.768 0.766 1.54 -0.200 -0.107 1.653 -0.767643 NA 1 0.381047 0.8064 NA 0.659 NA 9.1236864 740 16 1268376 1268376 G A exonic CACNA1H NA nonsynonymous SNV CACNA1H:NM_001005407:exon32:c.G5594A:p.R1865Q,CACNA1H:NM_021098:exon33:c.G5612A:p.R1871Q exonic ENSG00000196557 NA nonsynonymous SNV ENSG00000196557:ENST00000565831:exon31:c.G5594A:p.R1865Q,ENSG00000196557:ENST00000358590:exon32:c.G5594A:p.R1865Q,ENSG00000196557:ENST00000348261:exon33:c.G5612A:p.R1871Q NA NA 16p13.3 NA NA NA NA rs58124832 0.03 0.03 0.023 0.0317492 0.0537 NA 0.0375 NA 0.0808 0.06 NA 0.04 NA 0.0979 0.06 0.47 T 0.165 B 0.049 B 0.094 N 1.000 N 1.24 L -3.89 D -0.397 T 0.264 T 0.157 0.126 4.679 1.04 0.154 4.055 6.714 0.126187 NA 0.75 0.058256 0.008531 NA 0.036 NA 9.1234774 740 10 5541181 5541181 T C exonic CALML5 NA nonsynonymous SNV CALML5:NM_017422:exon1:c.A221G:p.K74R exonic ENSG00000178372 NA nonsynonymous SNV ENSG00000178372:ENST00000380332:exon1:c.A221G:p.K74R NA NA 10p15.1 NA NA NA NA rs10904516 0.34 0.34 0.081 0.353235 0.3221 0.3046 0.2334 0.5121 0.3057 0.32 0.29 0.25 0.5 0.3348 0.5 0.02 D 0.76 P 0.149 B 0.596 N 1.000 P 0.085 N 1.17 T -0.928 T 0.000 T 0.041 -0.192 3.065 -1.79 -1.160 0.459 4.026 -0.192375 NA 0.64 0.053953 0.120291 ID=COSM146869;OCCURENCE=1(stomach),1(large_intestine) NA NA 9.1224804 740 2 160604936 160604936 G A exonic MARCH7 NA nonsynonymous SNV MARCH7:NM_022826:exon5:c.G1135A:p.G379S exonic ENSG00000136536 NA nonsynonymous SNV ENSG00000136536:ENST00000409591:exon4:c.G1021A:p.G341S,ENSG00000136536:ENST00000539065:exon4:c.G967A:p.G323S,ENSG00000136536:ENST00000259050:exon5:c.G1135A:p.G379S,ENSG00000136536:ENST00000409175:exon7:c.G1135A:p.G379S Score=665;Name=lod=670 NA 2q24.2 NA NA NA NA rs13024801 0.04 0.04 0.037 0.0449281 0.0676 0.004 0.0461 0.0318 0.0808 0.07 0.0017 0.07 0.03 0.0689 0.075 1 T 0.005 B 0.009 B 0.229 N 0.984 P -0.145 N 1.66 T -0.989 T 0.002 T 0.034 0.473 6.565 1.48 0.367 2.377 6.714 0.472641 NA 0.67 0.075233 0.042215 NA 0.029 NA 9.1216004 740 22 38122122 38122122 T C exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.T3559C:p.F1187L exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon7:c.T3559C:p.F1187L Score=389;Name=lod=51 NA 22q13.1 NA NA NA NA rs5756795 0.37 0.37 0.351 0.336661 0.3877 0.5863 0.2867 0.1543 0.3088 0.38 0.58 0.31 0.17 0.3934 0.58 0.11 T 0.006 B 0.006 B . . 0.000 P 0.345 N 2.26 T -0.970 T 0.000 T 0.101 2.265 13.53 2.89 0.893 1.321 4.678 2.265441 2.265441 0.02 0.430897 0.179878 NA 0.348 NA 9.1213364 740 4 170428901 170428901 C T exonic NEK1 NA nonsynonymous SNV NEK1:NM_001199399:exon19:c.G1585A:p.A529T,NEK1:NM_001199400:exon19:c.G1660A:p.A554T,NEK1:NM_012224:exon20:c.G1792A:p.A598T,NEK1:NM_001199398:exon21:c.G1744A:p.A582T,NEK1:NM_001199397:exon22:c.G1876A:p.A626T exonic ENSG00000137601 NA nonsynonymous SNV ENSG00000137601:ENST00000510533:exon19:c.G1660A:p.A554T,ENSG00000137601:ENST00000512193:exon19:c.G1585A:p.A529T,ENSG00000137601:ENST00000439128:exon20:c.G1792A:p.A598T,ENSG00000137601:ENST00000511633:exon21:c.G1744A:p.A582T,ENSG00000137601:ENST00000507142:exon22:c.G1876A:p.A626T Score=419;Name=lod=67 NA 4q33 NA NA NA NA rs33933790 0.04 0.04 0.036 0.023762 0.0795 NA 0.0346 0.0038 0.0102 0.09 NA 0.03 0.01 0.0526 0.09 0.3 T 0.146 B 0.128 B 0.019 N 0.937 D 1.21 L -0.53 T -1.084 T 0.012 T 0.044 2.889 15.63 1.79 0.363 0.194 7.548 2.889056 2.889056 0.23 0.080073 0.017101 NA 0.036 NA 9.1211604 740 4 47560015 47560015 A G exonic ATP10D NA nonsynonymous SNV ATP10D:NM_020453:exon12:c.A2159G:p.N720S exonic ENSG00000145246 NA nonsynonymous SNV ENSG00000145246:ENST00000273859:exon12:c.A2159G:p.N720S NA NA 4p12 NA NA NA NA rs34169638 0.09 0.09 0.078 0.0842652 0.0736 0.2054 0.1282 0.0038 0.0481 0.07 0.19 0.1 0.0041 0.076 0.19 0.42 T 0.001 B 0.004 B 0.651 N 1.000 P -0.275 N 1.15 T -1.012 T 0.000 T 0.004 1.213 9.922 -6.8 -1.487 -0.308 7.082 1.212541 NA 0.21 0.064302 0.013618 NA 0.043 NA 9.1194314 740 19 9362297 9362297 C T exonic OR7E24 NA nonsynonymous SNV OR7E24:NM_001079935:exon1:c.C578T:p.S193F exonic ENSG00000237521 NA nonsynonymous SNV ENSG00000237521:ENST00000456448:exon1:c.C578T:p.S193F NA NA 19p13.2 NA NA NA NA rs12980833 0.07 0.07 0.058 0.0864617 0.0656 0.1042 0.0331 0.0439 0.1851 0.07 0.11 0.04 0.06 0.0737 0.11 0.01 D 0.183 B 0.166 B . . 1.000 P 2.585 M 8.71 T -1.027 T 0.000 T 0.058 0.695 7.709 1.13 0.278 0.478 3.373 0.694652 NA 0.01 0.075608 0.04693 NA 0.065 NA 9.1184254 740 1 156563726 156563726 A C exonic APOA1BP NA synonymous SNV APOA1BP:NM_144772:exon6:c.A717C:p.I239I exonic ENSG00000163382 NA nonsynonymous SNV ENSG00000163382:ENST00000368234:exon6:c.A661C:p.I221L Score=521;Name=lod=175 NA 1q23.1 NA Name=Pol2 NA NA rs6427322 0.94 0.94 0.933 0.928514 0.9592 0.9722 0.9568 0.8638 0.9192 0.96 0.97 0.96 0.88 0.9551 0.97 0.64 T 0.0 B 0.0 B 0.000 D 0.000 P . . 0.73 T -1.006 T 0.022 T . -0.161 3.212 2.99 0.129 2.202 4.425 -0.161431 NA 1 0.969767 0.857694 NA 0.87 NA 9.115933 740 5 79030338 79030338 A G exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.A5750G:p.D1917G exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A5750G:p.D1917G NA NA 5q14.1 NA NA NA NA rs16877150 0.15 0.15 0.17 0.126597 0.0596 0.3621 0.036 0.0749 0.0869 0.06 0.41 0.03 0.1 0.0928 0.41 0.66 T 0.001 B 0.001 B 0.556 N 1.000 P -0.49 N 3.73 T -0.904 T 0.000 T 0.049 0.186 4.999 -5.89 -0.999 0.096 2.303 0.185551 NA 0.45 0.065475 0.05786 NA 0.152 NA 9.1154584 741 7 77265140 77265140 G A exonic PTPN12 NA nonsynonymous SNV PTPN12:NM_001131009:exon14:c.G1726A:p.E576K,PTPN12:NM_001131008:exon15:c.G1759A:p.E587K,PTPN12:NM_002835:exon15:c.G2116A:p.E706K exonic ENSG00000127947 NA nonsynonymous SNV ENSG00000127947:ENST00000407343:exon2:c.G562A:p.E188K,ENSG00000127947:ENST00000435495:exon14:c.G1726A:p.E576K,ENSG00000127947:ENST00000248594:exon15:c.G2116A:p.E706K,ENSG00000127947:ENST00000415482:exon15:c.G1759A:p.E587K Score=445;Name=lod=86 NA 7q11.23 NA NA NA NA rs2230602 0.03 0.03 0.03 0.0309505 0.0865 0.001 0.0418 0.0038 0.0337 0.08 NA 0.04 0.01 0.0572 0.08 0.76 T 0.001 B 0.002 B 0.003 N 0.963 P 1.43 L 3.84 T -1.032 T 0.003 T 0.387 1.816 12.03 2.11 0.599 0.444 8.134 1.81571 1.81571 0.1 0.0755 0.014072 NA 0.08 NA 9.1141334 741 8 12600720 12600720 T A exonic LONRF1 NA nonsynonymous SNV LONRF1:NM_152271:exon2:c.A793T:p.I265L exonic ENSG00000154359 NA nonsynonymous SNV ENSG00000154359:ENST00000398246:exon2:c.A793T:p.I265L Score=560;Name=lod=252 NA 8p23.1 NA NA Name=2 NA rs1139354 0.03 0.03 0.03 0.0275559 0.0845 NA 0.0562 0.0038 0.0092 0.07 NA 0.06 0.002 0.054 0.081 1 T 0.0 B 0.0 B 0.086 N 0.000 P -0.97 N 1.61 T -0.997 T 0.001 T 0.057 -0.128 3.373 1.14 0.095 0.484 3.801 -0.127907 NA 1 0.081054 0.017827 NA 0.123 NA 9.1137794 741 2 68622914 68622914 G A exonic PLEK NA nonsynonymous SNV PLEK:NM_002664:exon9:c.G1019A:p.R340K exonic ENSG00000115956 NA nonsynonymous SNV ENSG00000115956:ENST00000234313:exon9:c.G1019A:p.R340K Score=576;Name=lod=292 NA 2p13.3 Score=683;Name=V$PPARG_02 NA NA NA rs1063479 0.83 0.83 0.826 0.857428 0.7087 0.9315 0.817 0.9554 0.8303 0.71 0.92 0.8 0.94 0.7864 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.27 N -0.87 T -0.926 T 0.000 T 0.017 0.679 7.631 4.49 0.430 4.577 10.019 0.678873 NA 1 0.724651 0.924421 NA 0.899 NA 9.1135824 741 11 16133413 16133413 A G exonic SOX6 NA synonymous SNV SOX6:NM_001145811:exon7:c.T834C:p.T278T,SOX6:NM_001145819:exon7:c.T873C:p.T291T,SOX6:NM_017508:exon7:c.T843C:p.T281T,SOX6:NM_033326:exon7:c.T834C:p.T278T exonic ENSG00000110693 NA synonymous SNV ENSG00000110693:ENST00000316399:exon6:c.T834C:p.T278T,ENSG00000110693:ENST00000352083:exon7:c.T834C:p.T278T,ENSG00000110693:ENST00000396356:exon7:c.T834C:p.T278T,ENSG00000110693:ENST00000527619:exon7:c.T843C:p.T281T,ENSG00000110693:ENST00000528252:exon7:c.T834C:p.T278T,ENSG00000110693:ENST00000528429:exon7:c.T834C:p.T278T Score=751;Name=lod=1497 NA 11p15.2 Score=859;Name=V$HEN1_02 Name=USF2,USF-1 Name=6 Score=96;Name=373347_0_+_96 rs4617548 0.53 0.53 0.513 0.505791 0.5119 0.6121 0.647 0.4569 0.3558 0.5 0.6 0.59 0.43 0.5273 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286024 NA NA 0.514788 0.502045 NA 0.457 NA 9.1126786 741 1 10460485 10460485 T C exonic PGD NA synonymous SNV PGD:NM_002631:exon3:c.T120C:p.D40D exonic ENSG00000142657 NA nonsynonymous SNV ENSG00000142657:ENST00000477958:exon3:c.T137C:p.M46T Score=473;Name=lod=112 NA 1p36.22 NA Name=Pol2 NA NA rs1049887 0.26 0.26 0.241 0.233826 0.3111 0.2817 0.3199 0.0658 0.271 0.31 0.3 0.35 0.09 0.2738 0.35 0 D . . . . . . 0.000 P . . . . -0.995 T 0.000 T . 1.401 10.62 1.38 0.038 0.528 5.193 1.401045 1.401045 NA 0.302674 0.097594 ID=COSM146394;OCCURENCE=1(stomach),1(prostate) 0.188 NA 9.112426 741 12 4873163 4873163 G T exonic GALNT8 NA nonsynonymous SNV GALNT8:NM_017417:exon9:c.G1543T:p.V515F exonic ENSG00000130035 NA nonsynonymous SNV ENSG00000130035:ENST00000252318:exon9:c.G1543T:p.V515F NA NA 12p13.32 NA NA NA NA rs1468556 0.37 0.37 0.349 0.329673 0.4225 0.3611 0.4251 0.2466 0.2464 0.42 0.39 0.41 0.25 0.3794 0.42 0.05 D 0.321 B 0.106 B 0.142 N 1.000 P 0.97 L 1.7 T -1.032 T 0.000 T 0.275 0.829 8.342 -7.55 -1.811 -0.158 8.971 0.828853 NA 0.05 0.419651 0.296187 ID=COSM1179986;OCCURENCE=1(prostate) 0.37 NA 9.1117824 741 8 133637659 133637659 G A exonic LRRC6 NA nonsynonymous SNV LRRC6:NM_012472:exon6:c.C695T:p.T232I exonic ENSG00000129295 NA nonsynonymous SNV ENSG00000129295:ENST00000250173:exon6:c.C695T:p.T232I,ENSG00000129295:ENST00000518642:exon6:c.C695T:p.T232I,ENSG00000129295:ENST00000519595:exon6:c.C695T:p.T232I NA NA 8q24.22 NA NA NA NA rs2293979 0.46 0.46 0.498 0.486222 0.3777 0.2827 0.3199 0.8956 0.3722 0.4 0.25 0.37 0.87 0.4191 0.87 0.23 T 0.0 B 0.0 B 0.311 N 1.000 P -0.69 N 0.76 T -1.000 T 0.000 T 0.02 0.523 6.833 -9.57 -2.791 -2.791 2.765 0.5229 NA 0.21 0.424884 0.818429 NA 0.594 NA 9.1116494 741 12 121605355 121605355 G A exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon8:c.G809A:p.R270H exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000328963:exon7:c.G299A:p.R100H,ENSG00000089041:ENST00000546057:exon8:c.G809A:p.R270H,ENSG00000089041:ENST00000535250:exon9:c.G539A:p.R180H NA NA 12q24.31 NA NA Name=37 NA rs7958311 0.29 0.29 0.273 0.255791 0.2296 0.3958 0.2968 0.2708 0.089 0.23 0.41 0.29 0.23 0.2448 0.41 0.66 T 0.984 D 0.607 P 0.057 N 1.000 P 1.435 L 3.67 T -0.972 T 0.000 T 0.466 2.343 13.79 0.975 0.124 0.757 5.665 2.342889 2.342889 0.18 0.247442 0.239219 ID=COSM147626;OCCURENCE=1(stomach) 0.196 NA 9.1114914 741 1 109391662 109391662 G C exonic AKNAD1 NA nonsynonymous SNV AKNAD1:NM_152763:exon4:c.C1054G:p.L352V exonic ENSG00000162641 NA nonsynonymous SNV ENSG00000162641:ENST00000357393:exon3:c.C175G:p.L59V,ENSG00000162641:ENST00000369994:exon3:c.C1054G:p.L352V,ENSG00000162641:ENST00000369995:exon4:c.C1054G:p.L352V,ENSG00000162641:ENST00000370001:exon4:c.C1054G:p.L352V,ENSG00000162641:ENST00000461774:exon4:c.C1054G:p.L352V,ENSG00000162641:ENST00000472781:exon4:c.C1054G:p.L352V,ENSG00000162641:ENST00000474186:exon5:c.C1054G:p.L352V NA NA 1p13.3 NA NA Name=5 NA rs11580913 0.06 0.06 0.06 0.0621006 0.0676 NA 0.0519 0.1452 0.0153 0.07 NA 0.06 0.13 0.0709 0.14 0.31 T 0.797 P 0.48 P 0.824 N 1.000 N 0.46 N 1.64 T -1.049 T 0.017 T 0.029 0.495 6.686 -1.53 0.044 -0.297 1.999 0.495208 NA 0.2 0.083721 0.141171 NA 0.022 NA 9.1111124 741 8 22053778 22053778 G A intronic BMP1 NA NA NA exonic ENSG00000168487 NA nonsynonymous SNV ENSG00000168487:ENST00000397814:exon14:c.G1850A:p.G617E,ENSG00000168487:ENST00000471755:exon14:c.G1850A:p.G617E NA NA 8p21.3 NA NA NA NA rs79619458 0.01 0.01 0.017 0.0141773 0.0298 NA 0.0144 0.003 0.0276 0.02 NA 0.02 0.01 0.0149 0.02 0 D . . . . . . 1.000 N . . 1.14 T -0.989 T 0.031 T 0.055 1.134 9.62 -4.95 -1.145 -0.104 0.071 1.133609 NA 0 0.011301 0.002854 NA NA NA 9.1106657 741 10 30316208 30316208 T C exonic KIAA1462 NA nonsynonymous SNV KIAA1462:NM_020848:exon3:c.A2869G:p.R957G exonic ENSG00000165757 NA nonsynonymous SNV ENSG00000165757:ENST00000375377:exon3:c.A2869G:p.R957G NA NA 10p11.23 NA Name=USF-1,c-Myc,CTCF_(C-20),CTCF_(SC-5916),GATA-2,CTCF,Rad21,E2F6_(H-50) Name=65 NA rs2185724 0.37 0.37 0.404 0.337061 0.4334 0.3036 0.2968 0.3691 0.2577 0.42 0.31 0.35 0.38 0.3733 0.42 0.24 T 0.01 B 0.009 B 0.736 N 1.000 P 0.11 N 2.6 T -0.954 T 0.000 T 0.031 1.705 11.66 -11.2 -3.245 -0.378 5.851 1.705407 1.705407 0.29 0.417637 0.380546 ID=COSM427458;OCCURENCE=1(breast) 0.348 NA 9.1089964 741 1 24447468 24447468 G C exonic IL22RA1 NA nonsynonymous SNV IL22RA1:NM_021258:exon7:c.C1552G:p.R518G exonic ENSG00000142677 NA nonsynonymous SNV ENSG00000142677:ENST00000270800:exon7:c.C1552G:p.R518G NA NA 1p36.11 NA NA NA NA rs3795299 0.44 0.44 0.447 0.466254 0.3996 0.7252 0.4035 0.2874 0.5542 0.38 0.71 0.35 0.28 0.4174 0.71 0.32 T 0.178 B 0.039 B 0.248 N 1.000 P 0 N 3.11 T -0.974 T 0.000 T 0.094 0.687 7.672 4.24 1.394 1.837 11.300 0.68723 NA 0.22 0.407791 0.303904 NA 0.362 NA 9.1085424 741 11 1782594 1782594 G A exonic CTSD NA nonsynonymous SNV CTSD:NM_001909:exon2:c.C173T:p.A58V exonic ENSG00000117984 NA nonsynonymous SNV ENSG00000117984:ENST00000438213:exon1:c.C128T:p.A43V,ENSG00000117984:ENST00000236671:exon2:c.C173T:p.A58V,ENSG00000117984:ENST00000367196:exon2:c.C68T:p.A23V,ENSG00000117984:ENST00000433655:exon2:c.C173T:p.A58V NA NA 11p15.5 NA NA NA NA rs17571 0.05 0.05 0.05 0.0553115 0.0736 0.0367 0.0533 0.0204 0.1043 0.08 0.03 0.07 0.03 0.0704 0.081 0.61 T 0.177 B 0.03 B 0.011 N 1.000 P 0.325 N 0.74 T -1.129 T 0.005 T 0.189 0.807 8.24 -1.74 -0.459 1.678 1.395 0.806716 NA 0.52 0.081065 0.031789 NA 0.043 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116853.2|RCV000124633.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.1082684 741 19 57089050 57089050 C T exonic ZNF470 NA nonsynonymous SNV ZNF470:NM_001001668:exon6:c.C1253T:p.T418I exonic ENSG00000197016 NA nonsynonymous SNV ENSG00000197016:ENST00000391709:exon5:c.C1253T:p.T418I,ENSG00000197016:ENST00000330619:exon6:c.C1253T:p.T418I Score=445;Name=lod=86 NA 19q13.43 NA Name=KAP1,SETDB1,ZNF274 Name=6 NA rs4801177 0.77 0.77 0.779 0.772165 0.7584 0.6815 0.696 0.9516 0.6912 0.74 0.67 0.75 0.94 0.7313 0.94 1 T 0.0 B 0.0 B . . 1.000 P 0.045 N 2.66 T -0.963 T 0.000 T 0.035 -2.259 0.004 4.26 0.686 -0.120 8.935 -2.258914 NA 1 0.735465 0.925329 ID=COSM1180616;OCCURENCE=1(upper_aerodigestive_tract) 0.804 NA 9.1081684 741 12 6711147 6711147 C A exonic CHD4 NA nonsynonymous SNV CHD4:NM_001273:exon4:c.G417T:p.E139D exonic ENSG00000111642 NA nonsynonymous SNV ENSG00000111642:ENST00000309577:exon4:c.G417T:p.E139D,ENSG00000111642:ENST00000357008:exon4:c.G417T:p.E139D,ENSG00000111642:ENST00000544040:exon4:c.G396T:p.E132D,ENSG00000111642:ENST00000544484:exon4:c.G408T:p.E136D,ENSG00000111642:ENST00000545942:exon4:c.G417T:p.E139D NA NA 12p13.31 NA NA NA NA rs1639122 0.53 0.53 0.52 0.553115 0.4066 0.4821 0.3617 0.9009 0.4427 0.42 0.45 0.42 0.88 0.4118 0.88 1 T 0.0 B 0.0 B 0.014 N 0.997 P -0.06 N 0.95 T -0.910 T 0.000 T 0.082 -1.472 0.018 -8.15 -2.141 -2.782 2.379 -1.471809 NA 1 0.407191 0.825571 ID=COSM1363777,COSM1363776,COSM1363775;OCCURENCE=1(large_intestine) 0.507 NA 9.1077424 741 21 46057393 46057393 T A exonic KRTAP10-10 NA nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.T59A:p.V20D exonic ENSG00000221859 NA nonsynonymous SNV ENSG00000221859:ENST00000380095:exon1:c.T59A:p.V20D Score=475;Name=lod=114 NA 21q22.3 Score=849;Name=V$OLF1_01 NA NA NA rs2838602 0.76 0.76 0.742 0.781749 0.7694 0.6468 0.745 0.9183 0.7751 0.77 0.62 0.77 0.92 0.7493 0.92 1 T 0.0 B 0.0 B . . 0.000 P -2.21 N 4.18 T -1.038 T 0.000 T 0.113 -2.111 0.006 3.52 0.357 0.966 3.110 -2.111369 NA 1 0.707093 0.884249 NA 0.406 NA 9.1075404 741 11 60718792 60718792 C T exonic SLC15A3 NA nonsynonymous SNV SLC15A3:NM_016582:exon1:c.G232A:p.V78I exonic ENSG00000110446 NA nonsynonymous SNV ENSG00000110446:ENST00000227880:exon1:c.G232A:p.V78I,ENSG00000110446:ENST00000541505:exon1:c.G232A:p.V78I NA NA 11q12.2 NA Name=Max,Pol2,TAF1,Egr-1,Pol2-4H8 Name=15 NA rs150370599 0.03 0.03 0.037 0.0251597 0.0746 NA 0.0461 0.0038 0.0143 0.06 NA 0.05 0.01 0.0903 0.062 0.54 T 0.028 B 0.023 B 0.311 N 1.000 N 0.605 N 0.36 T -1.074 T 0.011 T 0.016 0.611 7.293 -0.932 -0.301 0.184 10.505 0.611444 NA 0.71 0.061813 0.011221 NA NA NA 9.1066204 741 9 138439806 138439806 C T exonic OBP2A NA nonsynonymous SNV OBP2A:NM_014582:exon4:c.C367T:p.R123C exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000342114:exon3:c.C233T:p.A78V,ENSG00000122136:ENST00000537747:exon3:c.C233T:p.A78V,ENSG00000122136:ENST00000340780:exon4:c.C367T:p.R123C,ENSG00000122136:ENST00000371776:exon4:c.C367T:p.R123C,ENSG00000122136:ENST00000471886:exon4:c.C367T:p.R123C,ENSG00000122136:ENST00000539850:exon4:c.C367T:p.R123C NA NA 9q34.3 NA NA NA NA rs72766543 0.16 0.16 0.142 0.146565 0.2515 0.1567 0.1326 0.0303 0.1953 0.25 0.14 0.17 0.03 0.2138 0.26 0.27 T 0.917 P 0.308 B 0.264 N 1.000 P 0 N 2.97 T -1.024 T 0.000 T 0.143 0.527 6.857 -2.08 -0.438 -3.799 2.138 0.527344 NA 0.18 0.262093 0.065365 NA 0.188 NA 9.1059404 741 12 11183286 11183286 G C exonic TAS2R31 NA nonsynonymous SNV TAS2R31:NM_176885:exon1:c.C649G:p.Q217E exonic ENSG00000256436 NA nonsynonymous SNV ENSG00000256436:ENST00000390675:exon1:c.C649G:p.Q217E NA NA 12p13.2 NA NA NA NA rs10845294 0.16 0.16 0.119 0.122604 0.2734 NA 0.2161 0.1051 0.0511 0.28 NA 0.21 0.14 0.1975 0.28 0.01 D 0.736 P 0.445 B . . 1.000 P 2.47 M 5.78 T -0.939 T 0.000 T 0.081 1.42 10.69 -1.26 -0.006 0.317 3.007 1.420493 1.420493 NA 0.256631 0.133908 NA 0.036 NA 9.1058024 741 1 29475341 29475341 C T exonic SRSF4 NA nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1066A:p.G356S exonic ENSG00000116350 NA nonsynonymous SNV ENSG00000116350:ENST00000373795:exon6:c.G1066A:p.G356S Score=487;Name=lod=127 NA 1p35.3 Score=901;Name=V$NRF2_01 NA NA NA rs2230678 0.52 0.52 0.526 0.495008 0.7694 0.1528 0.5447 0.5598 0.4427 0.77 0.15 0.56 0.56 0.6603 0.8 0.65 T 0.008 B 0.003 B 0.963 N 0.000 P 0.69 N 3.77 T -1.052 T 0.000 T 0.036 1.015 9.148 3.76 0.730 1.246 9.548 1.015494 NA 0.6 0.797929 0.609673 NA 0.543 NA 9.1057044 742 1 170934394 170934394 T C exonic MROH9 NA nonsynonymous SNV MROH9:NM_001163629:exon7:c.T478C:p.Y160H,MROH9:NM_025063:exon7:c.T478C:p.Y160H exonic ENSG00000117501 NA nonsynonymous SNV ENSG00000117501:ENST00000367758:exon7:c.T478C:p.Y160H,ENSG00000117501:ENST00000367759:exon7:c.T478C:p.Y160H NA NA 1q24.3 Score=825;Name=V$E4BP4_01 NA NA NA rs16863872 0.04 0.04 0.035 0.0357428 0.0825 NA 0.0476 0.0015 0.0624 0.08 NA 0.06 0.0041 0.0637 0.084 0.5 T 0.051 B 0.037 B 0.277 N 1.000 P 1.87 L 2.54 T -1.091 T 0.060 T 0.061 -0.127 3.376 -2.97 -0.153 -0.653 1.789 -0.127423 NA 0.41 0.083757 0.01596 NA 0.029 NA 9.1033764 742 19 17361116 17361116 G A exonic USHBP1 NA nonsynonymous SNV USHBP1:NM_031941:exon13:c.C2030T:p.A677V exonic ENSG00000130307 NA nonsynonymous SNV ENSG00000130307:ENST00000431146:exon12:c.C1838T:p.A613V,ENSG00000130307:ENST00000252597:exon13:c.C2030T:p.A677V NA NA 19p13.11 NA NA NA NA rs1043963 0.04 0.04 0.039 0.0317492 0.0785 0.0069 0.0403 0.0053 0.0389 0.08 0.01 0.05 0.0041 0.0661 0.086 0.27 T 0.989 D 0.413 B 0.223 N 1.000 D 1.7 L 2.14 T -1.068 T 0.002 T 0.202 1.426 10.71 1.68 0.884 0.501 8.681 1.425532 1.425532 0.14 0.086047 0.01793 NA 0.101 NA 9.1026864 742 2 198363504 198363504 A G exonic HSPD1 NA synonymous SNV HSPD1:NM_002156:exon2:c.T69C:p.T23T,HSPD1:NM_199440:exon2:c.T69C:p.T23T exonic ENSG00000144381 NA synonymous SNV ENSG00000144381:ENST00000345042:exon2:c.T69C:p.T23T,ENSG00000144381:ENST00000388968:exon2:c.T69C:p.T23T,ENSG00000144381:ENST00000426480:exon2:c.T195C:p.T65T,ENSG00000144381:ENST00000430176:exon2:c.T69C:p.T23T,ENSG00000144381:ENST00000440114:exon2:c.T69C:p.T23T,ENSG00000144381:ENST00000452200:exon2:c.T69C:p.T23T,ENSG00000144381:ENST00000544407:exon2:c.T69C:p.T23T,ENSG00000144381:ENST00000418022:exon3:c.T69C:p.T23T,ENSG00000144381:ENST00000428204:exon3:c.T69C:p.T23T,ENSG00000144381:ENST00000439605:exon3:c.T69C:p.T23T Score=566;Name=lod=265 NA 2q33.1 Score=875;Name=V$NF1_Q6 Name=Pol2-4H8,NRSF NA NA rs1050347 0.19 0.19 0.17 0.158147 0.2117 0.2282 0.1744 0.1029 0.0941 0.2 0.24 0.18 0.11 0.1643 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.542087 1.542087 NA 0.191395 0.111666 NA 0.123 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117242.2|RCV000125390.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.0992716 742 17 42953409 42953409 A G exonic EFTUD2 NA synonymous SNV EFTUD2:NM_001142605:exon9:c.T657C:p.T219T,EFTUD2:NM_001258353:exon10:c.T762C:p.T254T,EFTUD2:NM_001258354:exon10:c.T732C:p.T244T,EFTUD2:NM_004247:exon10:c.T762C:p.T254T exonic ENSG00000108883 NA synonymous SNV ENSG00000108883:ENST00000402521:exon9:c.T657C:p.T219T,ENSG00000108883:ENST00000426333:exon10:c.T762C:p.T254T,ENSG00000108883:ENST00000591382:exon10:c.T762C:p.T254T,ENSG00000108883:ENST00000592576:exon10:c.T732C:p.T244T Score=596;Name=lod=351 NA 17q21.31 Score=904;Name=V$AP1FJ_Q2 NA Name=2 NA rs2289674 0.18 0.18 0.171 0.170527 0.1958 0.1369 0.121 0.2526 0.1033 0.19 0.13 0.13 0.27 0.1743 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139501 NA NA 0.19814 0.261235 NA 0.21 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116955.2;CLNDSDB=.;CLNDSDBID=. 9.0984266 742 17 44828931 44828931 G A exonic NSF NA synonymous SNV NSF:NM_006178:exon19:c.G2106A:p.K702K exonic ENSG00000073969 NA synonymous SNV ENSG00000073969:ENST00000576346:exon6:c.G390A:p.K130K,ENSG00000073969:ENST00000225282:exon18:c.G1824A:p.K608K,ENSG00000073969:ENST00000575068:exon18:c.G2091A:p.K697K,ENSG00000073969:ENST00000398238:exon19:c.G2106A:p.K702K Score=563;Name=lod=260 Name=Parkinson's disease 17q21.31 Score=786;Name=V$COMP1_01 NA Name=3 NA rs199533 0.11 0.11 0.098 0.0790735 0.2227 0.001 0.1513 0.0106 0.0532 0.22 0.0017 0.18 0.02 0.1357 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951922 NA NA 0.210285 0.037765 NA 0.051 NA 9.0979816 742 19 55671374 55671374 C T exonic DNAAF3 NA synonymous SNV DNAAF3:NM_001256714:exon10:c.G1257A:p.P419P,DNAAF3:NM_001256715:exon10:c.G1056A:p.P352P,DNAAF3:NM_001256716:exon10:c.G894A:p.P298P,DNAAF3:NM_178837:exon10:c.G1197A:p.P399P exonic ENSG00000167646,ENSG00000267110 NA synonymous SNV ENSG00000167646:ENST00000455045:exon8:c.G894A:p.P298P,ENSG00000167646:ENST00000391720:exon10:c.G1197A:p.P399P,ENSG00000167646:ENST00000524407:exon10:c.G1056A:p.P352P,ENSG00000167646:ENST00000527223:exon10:c.G1257A:p.P419P NA NA 19q13.42 NA NA NA NA rs891187 0.29 0.29 0.286 0.331869 0.175 0.2361 0.1744 0.6407 0.2863 0.17 0.22 0.19 0.64 0.2266 0.64 . . . . . . . . 0.000 P . . . . -1.097 T 0.000 T . 2.053 12.82 -8.56 -3.114 -2.852 10.391 2.053034 2.053034 NA 0.16829 0.562265 NA 0.181 NA 9.0967766 742 22 35802661 35802661 C G exonic MCM5 NA nonsynonymous SNV MCM5:NM_006739:exon5:c.C539G:p.T180S exonic ENSG00000100297 NA nonsynonymous SNV ENSG00000100297:ENST00000444778:exon3:c.C110G:p.T37S,ENSG00000100297:ENST00000382011:exon4:c.C410G:p.T137S,ENSG00000100297:ENST00000216122:exon5:c.C539G:p.T180S,ENSG00000100297:ENST00000416905:exon6:c.C635G:p.T212S Score=591;Name=lod=335 NA 22q12.3 NA NA Name=2 NA rs2307340 0.04 0.04 0.043 0.0415335 0.0855 0.006 0.0288 0.0234 0.0665 0.08 0.01 0.02 0.03 0.0658 0.086 0.68 T 0.0 B 0.001 B 0.134 N 0.994 N 0.115 N 3.58 T -0.897 T 0.000 T 0.238 0.244 5.317 0.199 0.397 -0.180 8.332 0.24383 NA 0.48 0.085465 0.027463 NA 0.036 NA 9.0965684 742 12 9316773 9316773 T C exonic PZP NA nonsynonymous SNV PZP:NM_002864:exon20:c.A2570G:p.N857S exonic ENSG00000126838 NA nonsynonymous SNV ENSG00000126838:ENST00000261336:exon20:c.A2570G:p.N857S NA NA 12p13.31 NA NA NA NA rs3213831 0.39 0.39 0.385 0.403554 0.3966 0.4187 0.3646 0.3858 0.4468 0.39 0.42 0.38 0.37 0.4108 0.43 0.06 T 0.949 P 0.607 P 0.007 N 0.711 P 2.14 M 1.41 T -0.939 T 0.000 T 0.083 1.702 11.65 1.37 0.156 2.556 6.336 1.701569 1.701569 0.04 0.429767 0.417612 NA 0.377 NA 9.0961664 742 13 73349359 73349359 G C exonic DIS3 NA nonsynonymous SNV DIS3:NM_001128226:exon6:c.C887G:p.T296R,DIS3:NM_014953:exon6:c.C977G:p.T326R exonic ENSG00000083520 NA nonsynonymous SNV ENSG00000083520:ENST00000377767:exon6:c.C977G:p.T326R,ENSG00000083520:ENST00000377780:exon6:c.C887G:p.T296R,ENSG00000083520:ENST00000490646:exon6:c.C977G:p.T326R,ENSG00000083520:ENST00000545453:exon7:c.C491G:p.T164R Score=462;Name=lod=101 NA 13q22.1 NA NA NA NA rs7332388 0.43 0.43 0.446 0.432708 0.4215 0.2946 0.2839 0.7005 0.3303 0.4 0.32 0.31 0.7 0.4007 0.7 0.52 T 0.0 B 0.001 B 0.689 N 1.000 P 0.205 N 0.87 T -0.959 T 0.000 T 0.113 0.654 7.51 -3.74 -1.012 0.304 8.482 0.654453 NA 0.58 0.415116 0.677258 NA 0.428 NA 9.0960174 742 19 49398405 49398405 C T exonic TULP2 NA nonsynonymous SNV TULP2:NM_003323:exon6:c.G364A:p.G122S exonic ENSG00000104804 NA nonsynonymous SNV ENSG00000104804:ENST00000520977:exon4:c.G307A:p.G103S,ENSG00000104804:ENST00000518572:exon5:c.G226A:p.G76S,ENSG00000104804:ENST00000221399:exon6:c.G364A:p.G122S,ENSG00000104804:ENST00000522945:exon6:c.G355A:p.G119S NA NA 19q13.33 NA NA NA NA rs34378208 0.05 0.05 0.045 0.0519169 0.0805 0.002 0.0648 0.0113 0.1196 0.09 0.0017 0.07 0.01 0.0778 0.09 0.46 T 0.028 B 0.007 B 0.000 N 1.000 N 0 N 2.11 T -0.996 T 0.014 T 0.188 1.486 10.91 -3.78 -0.814 -3.132 2.385 1.48551 1.48551 0.08 0.08 0.019746 NA 0.022 NA 9.0950334 743 13 20425911 20425911 C A exonic ZMYM5 NA nonsynonymous SNV ZMYM5:NM_001039649:exon3:c.G410T:p.C137F,ZMYM5:NM_001039650:exon3:c.G410T:p.C137F,ZMYM5:NM_001142684:exon3:c.G410T:p.C137F exonic ENSG00000132950 NA nonsynonymous SNV ENSG00000132950:ENST00000502168:exon1:c.G380T:p.C127F,ENSG00000132950:ENST00000337963:exon3:c.G410T:p.C137F,ENSG00000132950:ENST00000382905:exon3:c.G410T:p.C137F,ENSG00000132950:ENST00000382907:exon3:c.G410T:p.C137F Score=734;Name=lod=1283 NA 13q12.11 NA NA NA NA rs9579717 0.09 0.09 0.07 0.096845 0.0924 0.0813 0.0735 0.1672 0.0389 0.08 0.06 0.07 0.14 0.0791 0.16 0.06 T 0.113 B 0.092 B . . 1.000 P 0.69 N 1.57 T -1.011 T 0.000 T 0.147 0.386 6.095 -2.22 -0.623 0.643 5.878 0.385875 NA 0.04 0.068256 0.159101 NA 0.167 NA 9.0935774 743 13 20413021 20413021 T C exonic ZMYM5 NA nonsynonymous SNV ZMYM5:NM_001039650:exon5:c.A691G:p.T231A,ZMYM5:NM_001142684:exon5:c.A691G:p.T231A exonic ENSG00000132950 NA nonsynonymous SNV ENSG00000132950:ENST00000502168:exon3:c.A661G:p.T221A,ENSG00000132950:ENST00000337963:exon5:c.A691G:p.T231A,ENSG00000132950:ENST00000382905:exon5:c.A691G:p.T231A Score=464;Name=lod=103 NA 13q12.11 NA Name=GATA-1 NA NA rs41292167 0.09 0.09 0.087 0.0972444 0.0924 0.0813 0.0735 0.1687 0.0389 0.08 0.06 0.07 0.14 0.0787 0.16 0.14 T 0.048 B 0.014 B 0.004 N 0.000 P 0.69 N 1.01 T -1.076 T 0.000 T 0.104 2.005 12.66 -0.334 0.073 0.848 4.843 2.004845 2.004845 0.06 0.068721 0.159328 NA 0.167 NA 9.0935124 743 13 20425948 20425948 T C exonic ZMYM5 NA nonsynonymous SNV ZMYM5:NM_001039649:exon3:c.A373G:p.I125V,ZMYM5:NM_001039650:exon3:c.A373G:p.I125V,ZMYM5:NM_001142684:exon3:c.A373G:p.I125V exonic ENSG00000132950 NA nonsynonymous SNV ENSG00000132950:ENST00000502168:exon1:c.A343G:p.I115V,ENSG00000132950:ENST00000337963:exon3:c.A373G:p.I125V,ENSG00000132950:ENST00000382905:exon3:c.A373G:p.I125V,ENSG00000132950:ENST00000382907:exon3:c.A373G:p.I125V Score=541;Name=lod=210 NA 13q12.11 Score=728;Name=V$HOX13_01 NA NA NA rs9579718 0.09 0.09 0.075 0.0980431 0.0924 0.0813 0.0735 0.1717 0.0389 0.08 0.06 0.07 0.14 0.0789 0.16 0.15 T 0.047 B 0.02 B . . 1.000 P 1.24 L 1.54 T -1.041 T 0.000 T 0.062 0.31 5.678 0.098 -0.036 -0.078 4.809 0.309723 NA 0.2 0.068605 0.160917 NA 0.167 NA 9.0934284 743 11 102576382 102576382 G A exonic MMP27 NA nonsynonymous SNV MMP27:NM_022122:exon1:c.C64T:p.R22W exonic ENSG00000137675 NA nonsynonymous SNV ENSG00000137675:ENST00000260229:exon1:c.C64T:p.R22W NA NA 11q22.2 NA NA NA NA rs12099177 0.16 0.16 0.138 0.16853 0.0666 0.2996 0.1455 0.1687 0.1544 0.06 0.28 0.12 0.19 0.11 0.28 0.02 D 0.058 B 0.029 B 0.505 U 1.000 P 0.805 L 1.25 T -0.986 T 0.000 T 0.125 1.429 10.72 0.533 0.330 1.091 3.919 1.429129 1.429129 0.03 0.063968 0.16818 ID=COSM147312;OCCURENCE=1(stomach) 0.261 NA 9.0927654 743 10 90433345 90433345 T A exonic LIPF NA nonsynonymous SNV LIPF:NM_001198828:exon7:c.T571A:p.F191I,LIPF:NM_004190:exon7:c.T670A:p.F224I,LIPF:NM_001198829:exon8:c.T700A:p.F234I,LIPF:NM_001198830:exon8:c.T601A:p.F201I exonic ENSG00000182333 NA nonsynonymous SNV ENSG00000182333:ENST00000238983:exon7:c.T670A:p.F224I,ENSG00000182333:ENST00000355843:exon8:c.T571A:p.F191I,ENSG00000182333:ENST00000394375:exon8:c.T700A:p.F234I NA NA 10q23.31 NA NA NA NA rs6586145 0.12 0.12 0.108 0.133586 0.0626 0.1419 0.0793 0.2753 0.045 0.06 0.11 0.1 0.23 0.097 0.24 . . 0.0 B 0.0 B 0.076 N 1.000 P -0.695 N -0.5 T -1.116 T 0.000 T 0.07 2.032 12.75 -10.6 -3.715 -3.313 6.728 2.031527 2.031527 0.35 0.08155 0.24455 NA 0.152 NA 9.0921834 743 6 109827716 109827716 C T exonic AK9 NA nonsynonymous SNV AK9:NM_001145128:exon35:c.G4663A:p.V1555I exonic ENSG00000155085 NA nonsynonymous SNV ENSG00000155085:ENST00000424296:exon35:c.G4663A:p.V1555I Score=363;Name=lod=40 NA 6q21 NA Name=CEBPB NA NA rs2277114 0.4 0.4 0.396 0.380391 0.4105 0.378 0.4092 0.2814 0.4652 0.41 0.45 0.4 0.3 0.4475 0.45 . . 0.0 B 0.0 B . . 0.000 P -1.04 N -1.14 T -1.079 T 0.044 T 0.115 -0.041 3.803 0.879 0.269 1.754 1.774 -0.041245 NA 0.7 0.384035 0.288295 NA 0.348 NA 9.0912984 743 2 101609827 101609827 C T exonic NPAS2 NA synonymous SNV NPAS2:NM_002518:exon20:c.C2130T:p.T710T exonic ENSG00000170485 NA nonsynonymous SNV ENSG00000170485:ENST00000450763:exon5:c.C445T:p.R149C NA NA 2q11.2 NA NA NA NA rs9223 0.25 0.25 0.24 0.252796 0.3002 0.2192 0.304 0.0832 0.4315 0.31 0.26 0.34 0.09 0.299 0.34 . . . . . . . . 1.000 P . . 1.52 T -0.966 T 0.000 T . 1.584 11.25 -8.78 -1.815 -1.203 1.636 1.584424 1.584424 0.09 0.310465 0.121425 NA 0.167 NA 9.090335 743 6 21065450 21065450 A G exonic CDKAL1 NA synonymous SNV CDKAL1:NM_017774:exon12:c.A1227G:p.P409P exonic ENSG00000145996 NA synonymous SNV ENSG00000145996:ENST00000378610:exon10:c.A1227G:p.P409P,ENSG00000145996:ENST00000378624:exon11:c.A1017G:p.P339P,ENSG00000145996:ENST00000274695:exon12:c.A1227G:p.P409P Score=704;Name=lod=969 NA 6p22.3 Score=834;Name=V$GRE_C Name=GATA-2 Name=64 NA rs56087852 0.16 0.16 0.18 0.187899 0.1998 0.1627 0.1369 0.239 0.1687 0.19 0.12 0.11 0.2 0.1878 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.235829 1.235829 NA 0.189884 0.218566 ID=COSM150057;OCCURENCE=1(stomach) 0.254 NA 9.0891826 743 1 222713621 222713621 C T exonic HHIPL2 NA nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1181A:p.R394Q exonic ENSG00000143512 NA nonsynonymous SNV ENSG00000143512:ENST00000343410:exon4:c.G1181A:p.R394Q Score=355;Name=lod=37 NA 1q41 Score=815;Name=V$GRE_C NA NA NA rs3748665 0.09 0.09 0.095 0.0856629 0.0924 0.0446 0.0778 0.1619 0.0235 0.1 0.05 0.09 0.14 0.0691 0.14 0.54 T 0.064 B 0.015 B 0.073 N 0.933 P 0.065 N 2.7 T -0.941 T 0.000 T 0.039 0.665 7.562 1.79 0.382 0.082 4.863 0.664969 NA 0.38 0.082907 0.14503 NA 0.072 NA 9.0889264 743 6 31122315 31122315 G C exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon4:c.C651G:p.S217R,CCHCR1:NM_001105564:exon4:c.C759G:p.S253R,CCHCR1:NM_019052:exon4:c.C492G:p.S164R exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000513222:exon3:c.C414G:p.S138R,ENSG00000204536:ENST00000376266:exon4:c.C492G:p.S164R,ENSG00000204536:ENST00000396263:exon4:c.C492G:p.S164R,ENSG00000204536:ENST00000396268:exon4:c.C759G:p.S253R,ENSG00000204536:ENST00000448141:exon4:c.C384G:p.S128R,ENSG00000204536:ENST00000448162:exon4:c.C492G:p.S164R,ENSG00000204536:ENST00000451521:exon4:c.C651G:p.S217R,ENSG00000204536:ENST00000508683:exon4:c.C384G:p.S128R Score=489;Name=lod=129 NA 6p21.33 NA NA NA NA rs130066 0.39 0.39 0.386 0.394169 0.4115 0.3839 0.4697 0.3449 0.3998 0.42 0.34 0.46 0.37 0.4058 0.46 0.54 T 0.008 B 0.01 B 0.252 N 1.000 P 1.445 L 3.89 T -0.929 T 0.004 T 0.306 1.172 9.768 3.49 0.596 2.837 7.248 1.171833 NA 0.65 0.428756 0.377483 ID=COSM1443230,COSM1443231;OCCURENCE=1(large_intestine) 0.42 NA 9.0872774 743 9 79324179 79324179 G A exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.C3011T:p.T1004M exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.C3011T:p.T1004M,ENSG00000106772:ENST00000428286:exon8:c.C1934T:p.T645M NA NA 9q21.2 NA Name=BATF Name=2 NA rs530978 0.45 0.45 0.387 0.431709 0.5885 0.3591 0.634 0.1952 0.5215 0.58 0.37 0.63 0.22 0.5525 0.63 0.21 T 0.943 P 0.367 B 0.246 N 1.000 P 0.55 N 0.95 T -0.947 T 0.000 T 0.171 2.753 15.17 2.98 0.857 0.447 5.200 2.75254 2.75254 0.27 0.605109 0.272321 NA 0.464 NA 9.0872244 743 1 222713501 222713501 C A exonic HHIPL2 NA nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1301T:p.R434L exonic ENSG00000143512 NA nonsynonymous SNV ENSG00000143512:ENST00000343410:exon4:c.G1301T:p.R434L NA NA 1q41 Score=823;Name=V$PAX3_01,V$PAX2_01 NA NA NA rs3748663 0.09 0.09 0.105 0.086262 0.0934 0.0446 0.0778 0.1634 0.0235 0.1 0.05 0.09 0.14 0.0699 0.15 0.21 T 0.173 B 0.231 B 0.833 N 1.000 P 1.15 L 2.5 T -0.936 T 0.000 T 0.113 0.91 8.702 -5.87 -0.768 -0.510 9.509 0.909983 NA 0.12 0.08314 0.148434 NA 0.072 NA 9.0868934 743 19 49658209 49658209 A C exonic HRC NA nonsynonymous SNV HRC:NM_002152:exon1:c.T286G:p.S96A exonic ENSG00000130528 NA nonsynonymous SNV ENSG00000130528:ENST00000252825:exon1:c.T286G:p.S96A,ENSG00000130528:ENST00000595625:exon1:c.T286G:p.S96A NA NA 19q13.33 Score=850;Name=V$IK3_01 NA NA NA rs3745297 0.35 0.35 0.311 0.350839 0.4085 0.254 0.438 0.2769 0.4294 0.4 0.26 0.49 0.29 0.4053 0.49 0.24 T 0.037 B 0.023 B . . 1.000 P 2.25 M 3.29 T -0.982 T 0.000 T 0.115 1.295 10.24 0.693 0.069 1.643 6.294 1.295323 1.295323 0.21 0.432791 0.292329 NA 0.326 NA 9.0867424 743 17 7462969 7462969 A G exonic TNFSF12-TNFSF13,TNFSF13 NA nonsynonymous SNV TNFSF13:NM_003808:exon2:c.A287G:p.N96S,TNFSF13:NM_172087:exon2:c.A287G:p.N96S,TNFSF13:NM_172088:exon2:c.A287G:p.N96S,TNFSF12-TNFSF13:NM_172089:exon7:c.A527G:p.N176S exonic ENSG00000161955,ENSG00000239697,ENSG00000248871 NA nonsynonymous SNV ENSG00000161955:ENST00000338784:exon2:c.A287G:p.N96S,ENSG00000161955:ENST00000349228:exon2:c.A287G:p.N96S,ENSG00000161955:ENST00000396545:exon2:c.A287G:p.N96S,ENSG00000161955:ENST00000436057:exon3:c.A236G:p.N79S,ENSG00000161955:ENST00000438470:exon3:c.A236G:p.N79S,ENSG00000248871:ENST00000293826:exon7:c.A527G:p.N176S,ENSG00000239697:ENST00000557233:exon7:c.A527G:p.N176S Score=300;Name=lod=22 Name=Non-albumin protein levels,IgA nephropathy,IgA levels 17p13.1 NA NA NA NA rs3803800 0.63 0.63 0.608 0.559704 0.7674 0.6498 0.585 0.2663 0.6319 0.78 0.67 0.7 0.29 0.6949 0.78 1 T 0.036 B 0.03 B 0.977 N 0.000 P 1.61 L 1.49 T -0.902 T 0.000 T 0.024 1.491 10.94 2.35 0.366 1.119 6.091 1.491471 1.491471 0.19 0.784767 0.37744 NA 0.674 NA 9.0862664 743 1 32672908 32672908 T G exonic IQCC NA nonsynonymous SNV IQCC:NM_001160042:exon5:c.T866G:p.F289C,IQCC:NM_018134:exon5:c.T626G:p.F209C exonic ENSG00000160051 NA nonsynonymous SNV ENSG00000160051:ENST00000291358:exon5:c.T626G:p.F209C,ENSG00000160051:ENST00000537469:exon5:c.T866G:p.F289C NA NA 1p35.1 NA NA NA NA rs3903683 0.17 0.17 0.173 0.227436 0.0567 0.2302 0.2378 0.3056 0.2873 0.06 0.22 0.15 0.31 0.1264 0.31 1 T 0.0 B 0.0 B 0.091 N 1.000 P -0.975 N 3.11 T -0.929 T 0.000 T 0.068 -1.607 0.013 2.32 0.305 1.192 2.932 -1.607113 NA NA 0.065116 0.291648 NA 0.21 NA 9.0851174 744 17 25628820 25628820 T C exonic WSB1 NA nonsynonymous SNV WSB1:NM_015626:exon2:c.T47C:p.L16S exonic ENSG00000109046 NA nonsynonymous SNV ENSG00000109046:ENST00000262394:exon2:c.T47C:p.L16S,ENSG00000109046:ENST00000581185:exon2:c.T47C:p.L16S,ENSG00000109046:ENST00000581440:exon2:c.T68C:p.L23S,ENSG00000109046:ENST00000582208:exon2:c.T47C:p.L16S Score=638;Name=lod=521 NA 17q11.1 NA NA NA NA rs6561 0.41 0.41 0.413 0.45607 0.3887 0.2609 0.3718 0.649 0.5256 0.39 0.25 0.38 0.67 0.4372 0.67 0.32 T 0.0 B 0.0 B 0.010 N 0.000 P -0.69 N 1.16 T -0.989 T 0.000 T 0.5 0.4 6.173 4.87 0.824 5.174 11.824 0.400188 NA 0.93 0.424186 0.624603 NA 0.478 NA 9.0832474 744 13 25466955 25466955 T C exonic CENPJ NA synonymous SNV CENPJ:NM_018451:exon10:c.A3042G:p.E1014E exonic ENSG00000151849 NA synonymous SNV ENSG00000151849:ENST00000381884:exon10:c.A3042G:p.E1014E,ENSG00000151849:ENST00000545981:exon10:c.A3042G:p.E1014E Score=478;Name=lod=117 NA 13q12.12 Score=809;Name=V$EVI1_04 NA NA NA rs3742165 0.51 0.51 0.474 0.484026 0.507 0.7024 0.5836 0.2436 0.4898 0.53 0.69 0.55 0.23 0.5395 0.69 . . . . . . . . 0.000 P . . . . -0.946 T 0.000 T . 0.896 8.641 4.02 2.106 0.181 8.185 0.896043 NA NA 0.537209 0.285293 NA 0.341 NA 9.0829576 744 6 56417282 56417282 C T exonic DST NA nonsynonymous SNV DST:NM_015548:exon42:c.G8439A:p.M2813I,DST:NM_183380:exon52:c.G9417A:p.M3139I,DST:NM_001144770:exon53:c.G9537A:p.M3179I,DST:NM_001144769:exon55:c.G9951A:p.M3317I exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000244364:exon42:c.G8439A:p.M2813I,ENSG00000151914:ENST00000446842:exon48:c.G14703A:p.M4901I,ENSG00000151914:ENST00000370788:exon52:c.G9417A:p.M3139I,ENSG00000151914:ENST00000421834:exon52:c.G9417A:p.M3139I,ENSG00000151914:ENST00000361203:exon57:c.G15675A:p.M5225I,ENSG00000151914:ENST00000370769:exon58:c.G15681A:p.M5227I,ENSG00000151914:ENST00000370754:exon61:c.G16215A:p.M5405I NA NA 6p12.1 NA Name=p300 Name=18 NA rs4715630 0.81 0.81 0.803 0.791534 0.7485 0.7887 0.7608 0.9319 0.6708 0.76 0.8 0.74 0.94 0.7601 0.94 0.31 T 0.0 B 0.001 B 0.001 N 1.000 P -1.05 N 1.38 T -0.997 T 0.007 T 0.127 1 9.084 -8.74 -1.759 -0.393 5.241 0.999945 NA 0.07 0.742325 0.908098 NA 0.819 NA 9.0824084 744 1 18149510 18149510 G T exonic ACTL8 NA nonsynonymous SNV ACTL8:NM_030812:exon2:c.G7T:p.A3S exonic ENSG00000117148 NA nonsynonymous SNV ENSG00000117148:ENST00000375406:exon2:c.G7T:p.A3S NA NA 1p36.13 NA NA NA NA rs694214 0.35 0.35 0.321 0.305711 0.4374 0.4315 0.3228 0.143 0.2485 0.46 0.41 0.27 0.15 0.3921 0.46 0 D 0.004 B 0.008 B 0.426 N 1.000 P 0.55 N -3.46 D -1.017 T 0.000 T 0.073 2.049 12.81 -3.42 -0.699 -0.019 3.746 2.048776 2.048776 0.06 0.421977 0.202451 NA 0.254 NA 9.0818564 744 18 43534824 43534824 T C exonic EPG5 NA nonsynonymous SNV EPG5:NM_020964:exon2:c.A544G:p.K182E exonic ENSG00000152223 NA nonsynonymous SNV ENSG00000152223:ENST00000282041:exon2:c.A544G:p.K182E NA NA 18q21.1 NA NA NA NA rs59422275 0.1 0.1 0.094 0.11262 0.0815 0.0268 0.0692 0.2466 0.0828 0.08 0.02 0.06 0.24 0.0874 0.24 1 T 0.001 B 0.002 B 0.078 N 1.000 P -0.345 N 2.84 T -0.967 T 0.000 T 0.089 0.286 5.546 2.73 0.280 1.089 6.386 0.28568 NA 0.53 0.083232 0.203425 NA 0.094 NA 9.0812014 744 16 10769958 10769958 T C exonic TEKT5 NA nonsynonymous SNV TEKT5:NM_144674:exon5:c.A944G:p.Q315R exonic ENSG00000153060 NA nonsynonymous SNV ENSG00000153060:ENST00000576638:exon4:c.A263G:p.Q88R,ENSG00000153060:ENST00000283025:exon5:c.A944G:p.Q315R Score=583;Name=lod=312 NA 16p13.13 NA NA NA NA rs2719710 0.58 0.58 0.555 0.634185 0.3588 0.8135 0.6009 0.6944 0.6748 0.38 0.82 0.53 0.67 0.5002 0.82 0.46 T 0.001 B 0.009 B 0.005 N 1.000 P -0.215 N 4.26 T -1.097 T 0.000 T 0.26 1.245 10.05 2.67 0.521 1.681 6.495 1.245159 1.245159 0.37 0.393256 0.653619 NA 0.674 NA 9.0810774 744 2 224862842 224862842 A G exonic SERPINE2 NA synonymous SNV SERPINE2:NM_001136528:exon3:c.T477C:p.N159N,SERPINE2:NM_001136530:exon3:c.T513C:p.N171N,SERPINE2:NM_006216:exon3:c.T477C:p.N159N exonic ENSG00000135919 NA synonymous SNV ENSG00000135919:ENST00000258405:exon3:c.T477C:p.N159N,ENSG00000135919:ENST00000409304:exon3:c.T477C:p.N159N,ENSG00000135919:ENST00000447280:exon3:c.T513C:p.N171N,ENSG00000135919:ENST00000409840:exon4:c.T477C:p.N159N,ENSG00000135919:ENST00000432738:exon4:c.T477C:p.N159N Score=432;Name=lod=76 NA 2q36.1 Score=839;Name=V$IRF1_01 Name=HNF4A_(H-171),JunD,HDAC2_(SC-6296),HNF4A,SP1,HNF4G_(SC-6558),CEBPB,RXRA,p300 Name=29 NA rs12457 0.25 0.25 0.254 0.253994 0.1909 0.129 0.2161 0.4826 0.1656 0.18 0.13 0.24 0.48 0.2038 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682343 NA NA 0.195233 0.444167 NA 0.239 NA 9.0767336 744 3 197432036 197432036 C T exonic KIAA0226 NA nonsynonymous SNV KIAA0226:NM_001145642:exon3:c.G50A:p.R17H,KIAA0226:NM_014687:exon3:c.G230A:p.R77H exonic ENSG00000145016 NA nonsynonymous SNV ENSG00000145016:ENST00000273582:exon3:c.G50A:p.R17H,ENSG00000145016:ENST00000296343:exon3:c.G230A:p.R77H,ENSG00000145016:ENST00000389665:exon3:c.G230A:p.R77H,ENSG00000145016:ENST00000449205:exon3:c.G230A:p.R77H Score=548;Name=lod=225 NA 3q29 NA NA NA NA rs61743568 0.07 0.07 0.069 0.0656949 0.0984 NA 0.0403 0.1188 0.046 0.1 NA 0.04 0.12 0.0718 0.12 0.15 T 0.169 B 0.018 B 0.084 N 0.422 P 0.69 N 2.67 T -1.007 T 0.000 T 0.209 2.638 14.78 -1.51 -0.170 0.195 11.570 2.637975 2.637975 0.01 0.086644 0.108276 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117387.2;CLNDSDB=.;CLNDSDBID=. 9.0764894 744 6 150210685 150210685 C T exonic RAET1E NA nonsynonymous SNV RAET1E:NM_001243325:exon3:c.G313A:p.A105T,RAET1E:NM_001243327:exon3:c.G421A:p.A141T,RAET1E:NM_139165:exon3:c.G421A:p.A141T,RAET1E:NM_001243328:exon4:c.G421A:p.A141T exonic ENSG00000164520 NA nonsynonymous SNV ENSG00000164520:ENST00000357183:exon3:c.G421A:p.A141T,ENSG00000164520:ENST00000367363:exon3:c.G313A:p.A105T,ENSG00000164520:ENST00000529948:exon3:c.G421A:p.A141T,ENSG00000164520:ENST00000532335:exon4:c.G421A:p.A141T NA NA 6q25.1 NA Name=p300_(N-15),GTF2F1_(RAP-74),CEBPB,TBP,STAT3,Pol2(phosphoS2),Pol2,c-Jun,JunD Name=19 NA rs9383921 0.5 0.5 0.455 0.469249 0.4175 0.8859 0.487 0.1747 0.4785 0.41 0.87 0.49 0.2 0.4392 0.87 0.21 T 0.064 B 0.008 B 0.586 N 1.000 P 0.145 N 2.55 T -1.061 T 0.029 T 0.066 0.004 4.036 -2.12 -0.380 -0.522 3.570 0.004177 NA 0.4 0.400581 0.205402 NA 0.536 NA 9.0760524 744 17 79803101 79803101 A G exonic P4HB NA synonymous SNV P4HB:NM_000918:exon10:c.T1365C:p.I455I exonic ENSG00000185624 NA synonymous SNV ENSG00000185624:ENST00000571617:exon4:c.T336C:p.I112I,ENSG00000185624:ENST00000439918:exon9:c.T1233C:p.I411I,ENSG00000185624:ENST00000331483:exon10:c.T1365C:p.I455I NA NA 17q25.3 Score=843;Name=V$HNF1_01 NA NA NA rs1130674 0.28 0.28 0.288 0.250998 0.173 0.2857 0.3184 0.3555 0.1063 0.18 0.34 0.28 0.37 0.2225 0.37 . . . . . . . . 0.000 P . . . . . . . . . 0.449 6.436 -6.65 -1.621 -0.470 13.455 0.448536 NA NA 0.195743 0.323797 NA 0.261 NA 9.0754236 745 16 5128817 5128817 G A exonic ALG1 NA nonsynonymous SNV ALG1:NM_019109:exon7:c.G800A:p.S267N exonic ENSG00000033011 NA nonsynonymous SNV ENSG00000033011:ENST00000262374:exon7:c.G800A:p.S267N,ENSG00000033011:ENST00000544428:exon7:c.G467A:p.S156N,ENSG00000033011:ENST00000591783:exon7:c.G467A:p.S156N,ENSG00000033011:ENST00000588623:exon8:c.G467A:p.S156N NA NA 16p13.3 Score=781;Name=V$PAX5_02 NA NA NA rs17849848 0.1 0.1 0.073 0.0726837 0.0815 0.128 0.1571 0.0061 0.0368 0.1 0.14 0.14 0.01 0.0917 0.14 0.73 T 0.003 B 0.007 B 0.007 N 1.000 P 1.395 L -1.07 T -1.045 T 0.003 T 0.044 0.844 8.409 3.29 0.585 0.415 7.594 0.84364 NA NA 0.085272 0.013655 NA 0.058 NA 9.0748614 745 19 39915637 39915637 G A exonic PLEKHG2 NA synonymous SNV PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q exonic ENSG00000090924 NA synonymous SNV ENSG00000090924:ENST00000425673:exon17:c.G3777A:p.Q1259Q,ENSG00000090924:ENST00000409794:exon19:c.G3864A:p.Q1288Q Score=448;Name=lod=88 NA 19q13.2 NA NA NA NA rs31727 0.56 0.56 0.565 0.596845 0.5358 0.5962 0.5086 0.6762 0.6155 0.53 0.55 0.51 0.65 0.5511 0.66 . . . . . . . . 0.000 P . . . . -0.925 T 0.000 T . 0.995 9.065 4.1 1.175 2.675 9.778 0.995379 NA NA 0.506629 0.65842 NA 0.486 NA 9.0731376 745 13 20411701 20411701 C T exonic ZMYM5 NA nonsynonymous SNV ZMYM5:NM_001039650:exon6:c.G1133A:p.R378H exonic ENSG00000132950 NA nonsynonymous SNV ENSG00000132950:ENST00000382905:exon6:c.G1133A:p.R378H NA NA 13q12.11 NA NA NA NA rs7988277 0.1 0.1 0.102 0.117212 0.0984 0.0813 0.0836 0.211 0.0706 0.09 0.06 0.08 0.17 0.0897 0.2 0 D 0.0 B 0.0 B . . 1.000 P . . 1.78 T -1.012 T 0.000 T 0.024 1.022 9.174 -2.1 -0.881 -0.438 5.751 1.021882 NA 0 0.073193 0.196453 NA 0.174 NA 9.0720404 745 5 149212243 149212243 G C exonic PPARGC1B NA nonsynonymous SNV PPARGC1B:NM_001172698:exon4:c.G490C:p.A164P,PPARGC1B:NM_001172699:exon4:c.G415C:p.A139P,PPARGC1B:NM_133263:exon5:c.G607C:p.A203P exonic ENSG00000155846 NA nonsynonymous SNV ENSG00000155846:ENST00000360453:exon4:c.G490C:p.A164P,ENSG00000155846:ENST00000403750:exon4:c.G415C:p.A139P,ENSG00000155846:ENST00000309241:exon5:c.G607C:p.A203P,ENSG00000155846:ENST00000394320:exon5:c.G607C:p.A203P NA NA 5q32 NA NA NA NA rs7732671 0.1 0.1 0.095 0.109625 0.0825 0.0625 0.1427 0.1793 0.0685 0.08 0.06 0.15 0.16 0.0962 0.17 0.55 T 0.007 B 0.015 B 0.858 N 1.000 P 0.55 N 2.96 T -0.914 T 0.000 T 0.092 -1.101 0.142 -4.26 -0.413 -0.005 1.270 -1.100846 NA 0.26 0.08407 0.16069 NA 0.123 CLINSIG=pathogenic;CLNDBN=Obesity\x2c_variation_in;CLNREVSTAT=single;CLNACC=RCV000002119.1;CLNDSDB=.;CLNDSDBID=. 9.0705634 745 1 229772932 229772932 A G exonic URB2 NA nonsynonymous SNV URB2:NM_014777:exon4:c.A2572G:p.K858E exonic ENSG00000135763 NA nonsynonymous SNV ENSG00000135763:ENST00000258243:exon4:c.A2572G:p.K858E NA NA 1q42.13 NA NA NA NA rs3811474 0.22 0.22 0.211 0.199281 0.0636 0.4315 0.2421 0.1952 0.0746 0.06 0.47 0.21 0.2 0.1354 0.47 . . 0.055 B 0.032 B 0.178 N 1.000 P 0.895 L 1.54 T -0.913 T 0.000 T 0.091 0.651 7.495 2.59 0.831 2.475 2.453 0.651409 NA NA 0.064302 0.191557 NA 0.203 NA 9.0700314 745 14 39716808 39716808 T C exonic MIA2 NA nonsynonymous SNV MIA2:NM_054024:exon4:c.T1030C:p.S344P exonic ENSG00000150526,ENSG00000258941 NA nonsynonymous SNV ENSG00000150526:ENST00000280082:exon4:c.T1030C:p.S344P,ENSG00000258941:ENST00000553728:exon4:c.T1030C:p.S344P,ENSG00000150526:ENST00000556784:exon4:c.T1027C:p.S343P NA NA 14q21.1 Score=888;Name=V$IK3_01 NA NA NA rs3825549 0.07 0.07 0.067 0.0782748 0.0915 0.0774 0.062 0.0129 0.1656 0.1 0.08 0.07 0.02 0.0895 0.1 . . 0.005 B 0.005 B 0.023 N 1.000 N 1.525 L 3.17 T -1.103 T 0.002 T 0.119 2.522 14.39 -2.64 -0.038 0.129 0.599 2.52185 2.52185 0.27 0.083721 0.026555 NA 0.101 NA 9.0686124 746 8 95877787 95877787 T C exonic INTS8 NA synonymous SNV INTS8:NM_017864:exon17:c.T2130C:p.S710S exonic ENSG00000164941 NA synonymous SNV ENSG00000164941:ENST00000520315:exon3:c.T192C:p.S64S,ENSG00000164941:ENST00000343161:exon17:c.T2130C:p.S710S,ENSG00000164941:ENST00000447247:exon17:c.T2130C:p.S710S,ENSG00000164941:ENST00000523731:exon17:c.T2130C:p.S710S Score=700;Name=lod=934 NA 8q22.1 NA Name=MafK_(ab50322) NA NA rs713113 0.56 0.56 0.557 0.566693 0.5388 0.6607 0.6182 0.4531 0.6155 0.53 0.63 0.64 0.47 0.5499 0.64 . . . . . . . . 0.000 P . . . . -0.917 T 0.000 T . 1.278 10.18 3.81 1.989 0.095 6.430 1.27845 1.27845 NA 0.51407 0.49478 NA 0.551 NA 9.0638966 746 11 43702530 43702530 A G exonic HSD17B12 NA synonymous SNV HSD17B12:NM_016142:exon1:c.A153G:p.E51E exonic ENSG00000149084 NA synonymous SNV ENSG00000149084:ENST00000278353:exon1:c.A153G:p.E51E,ENSG00000149084:ENST00000395700:exon1:c.A153G:p.E51E,ENSG00000149084:ENST00000531185:exon1:c.A153G:p.E51E Score=468;Name=lod=106 NA 11p11.2 Score=871;Name=V$YY1_01 Name=Pol2(b),NFKB,Pol2 Name=88 NA rs56168061 0.12 0.12 0.11 0.102037 0.1938 0.001 0.1066 0.0817 0.136 0.21 0.0017 0.12 0.1 0.195 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499706 NA NA 0.214402 0.090764 ID=COSM428975;OCCURENCE=1(breast) 0.232 NA 9.0634646 746 5 141307833 141307833 T C exonic KIAA0141 NA nonsynonymous SNV KIAA0141:NM_001142603:exon4:c.T382C:p.F128L,KIAA0141:NM_014773:exon4:c.T382C:p.F128L exonic ENSG00000081791 NA nonsynonymous SNV ENSG00000081791:ENST00000194118:exon4:c.T382C:p.F128L,ENSG00000081791:ENST00000432126:exon4:c.T382C:p.F128L,ENSG00000081791:ENST00000508751:exon4:c.T382C:p.F128L NA NA 5q31.3 NA NA NA NA rs10036567 0.13 0.13 0.148 0.157548 0.0865 0.0099 0.0749 0.3835 0.136 0.08 0.01 0.09 0.39 0.1025 0.39 1 T 0.0 B 0.0 B 0.025 N 1.000 P -1.935 N 2.96 T -0.927 T 0.000 T 0.022 -0.236 2.862 4.75 0.856 1.118 9.481 -0.235939 NA 1 0.083953 0.327962 NA 0.145 NA 9.0603804 746 16 89627671 89627671 C T exonic RPL13 NA synonymous SNV RPL13:NM_033251:exon2:c.C141T:p.A47A,RPL13:NM_000977:exon3:c.C141T:p.A47A,RPL13:NM_001243130:exon3:c.C141T:p.A47A,RPL13:NM_001243131:exon3:c.C141T:p.A47A exonic ENSG00000167526 NA synonymous SNV ENSG00000167526:ENST00000393099:exon2:c.C141T:p.A47A,ENSG00000167526:ENST00000311528:exon3:c.C141T:p.A47A,ENSG00000167526:ENST00000452368:exon3:c.C141T:p.A47A,ENSG00000167526:ENST00000467736:exon3:c.C141T:p.A47A,ENSG00000167526:ENST00000567815:exon3:c.C141T:p.A47A Score=431;Name=lod=75 NA 16q24.3 Score=949;Name=V$GATA1_01 Name=Pol2,CTCF Name=19 NA rs174035 0.15 0.15 0.163 0.14377 0.1839 0.13 0.1282 0.1256 0.1524 0.19 0.14 0.13 0.14 0.2621 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.489844 2.489844 NA 0.161267 0.114508 NA 0.087 NA 9.0593996 746 8 144996029 144996029 A G exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon32:c.T7918C:p.S2640P,PLEC:NM_201379:exon32:c.T7894C:p.S2632P,PLEC:NM_201380:exon32:c.T8371C:p.S2791P,PLEC:NM_201381:exon32:c.T7864C:p.S2622P,PLEC:NM_201382:exon32:c.T7960C:p.S2654P,PLEC:NM_201383:exon32:c.T7972C:p.S2658P,PLEC:NM_201384:exon32:c.T7960C:p.S2654P,PLEC:NM_000445:exon33:c.T8041C:p.S2681P exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon32:c.T8371C:p.S2791P,ENSG00000178209:ENST00000345136:exon32:c.T7960C:p.S2654P,ENSG00000178209:ENST00000354589:exon32:c.T7960C:p.S2654P,ENSG00000178209:ENST00000354958:exon32:c.T7894C:p.S2632P,ENSG00000178209:ENST00000356346:exon32:c.T7918C:p.S2640P,ENSG00000178209:ENST00000357649:exon32:c.T7972C:p.S2658P,ENSG00000178209:ENST00000398774:exon32:c.T7864C:p.S2622P,ENSG00000178209:ENST00000527096:exon32:c.T8029C:p.S2677P,ENSG00000178209:ENST00000436759:exon33:c.T8041C:p.S2681P Score=336;Name=lod=31 NA 8q24.3 NA Name=Pol2 NA NA rs7833924 0.45 0.45 0.472 0.466653 0.4354 0.1429 0.3674 0.8775 0.3476 0.43 0.16 0.38 0.86 0.4085 0.86 1 T 0.0 B 0.0 B 0.000 N 0.997 P -0.05 N -0.43 T -0.943 T 0.000 T 0.051 1.156 9.708 1.26 0.147 0.441 3.695 1.156295 NA 1 0.430891 0.825954 ID=COSM454186,COSM454187,COSM1489102;OCCURENCE=3(breast) 0.522 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078898.3;CLNDSDB=.;CLNDSDBID=. 9.0585424 747 17 10355763 10355763 T C exonic MYH4 NA nonsynonymous SNV MYH4:NM_017533:exon26:c.A3318G:p.I1106M exonic ENSG00000264424 NA nonsynonymous SNV ENSG00000264424:ENST00000255381:exon26:c.A3318G:p.I1106M Score=385;Name=lod=49 NA 17p13.1 NA NA NA NA rs917361 0.52 0.52 0.504 0.533946 0.3698 0.8631 0.5187 0.3442 0.6309 0.37 0.87 0.5 0.33 0.493 0.87 0.22 T 0.0 B 0.003 B 0.000 N 1.000 P -0.425 N -1.67 D -0.964 T 0.000 T 0.037 0.572 7.093 4.63 0.854 -0.314 4.116 0.57248 NA NA 0.41593 0.359737 NA 0.594 NA 9.0546034 747 19 9048895 9048895 A C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon5:c.T32736G:p.S10912R exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon5:c.T32736G:p.S10912R NA NA 19p13.2 NA NA NA NA rs2012761 0.16 0.16 0.136 0.159345 0.0865 0.2619 0.1801 0.1415 0.138 0.09 0.29 0.15 0.11 0.1154 0.29 0 D 0.112 B 0.031 B . . . . 1.955 M 4.21 T -0.929 T 0.000 T 0.034 0.692 7.695 -1.16 -0.365 0.433 2.343 0.691851 NA 0.05 0.077603 0.134716 NA 0.138 NA 9.0538304 747 17 1183354 1183354 T C exonic TUSC5 NA nonsynonymous SNV TUSC5:NM_172367:exon1:c.T59C:p.F20S exonic ENSG00000184811 NA nonsynonymous SNV ENSG00000184811:ENST00000333813:exon1:c.T59C:p.F20S Score=333;Name=lod=30 NA 17p13.3 NA NA NA NA rs6502774 0.84 0.84 0.844 0.849042 0.7435 0.8819 0.8876 0.9244 0.7945 0.73 0.9 0.86 0.93 0.7904 0.93 0.36 T 0.0 B 0.0 B 0.000 U 1.000 P 0 N -0.44 T -0.988 T 0.000 T 0.084 3.225 16.81 5.22 1.247 2.666 10.057 3.22547 3.22547 0.33 0.746508 0.898279 NA 0.804 NA 9.0529254 747 5 140739779 140739779 C G exonic PCDHGB2 NA nonsynonymous SNV PCDHGB2:NM_018923:exon1:c.C77G:p.P26R,PCDHGB2:NM_032096:exon1:c.C77G:p.P26R exonic ENSG00000253910 NA nonsynonymous SNV ENSG00000253910:ENST00000522605:exon1:c.C77G:p.P26R NA NA 5q31.3 NA NA Name=2 NA rs17097231 0.12 0.12 0.101 0.130391 0.0706 0.119 0.1671 0.1573 0.1411 0.08 0.12 0.15 0.14 0.1205 0.15 0.36 T 0.0 B 0.0 B . . 1.000 P 0 N 0.77 T -1.055 T 0.000 T 0.06 -1.174 0.087 2.45 0.694 0.942 8.483 -1.173915 NA NA 0.089787 0.14607 NA 0.109 NA 9.0524464 747 8 141310644 141310644 G A exonic TRAPPC9 NA synonymous SNV TRAPPC9:NM_001160372:exon11:c.C1692T:p.N564N,TRAPPC9:NM_031466:exon11:c.C1986T:p.N662N exonic ENSG00000167632 NA synonymous SNV ENSG00000167632:ENST00000389327:exon10:c.C1665T:p.N555N,ENSG00000167632:ENST00000389328:exon11:c.C1986T:p.N662N,ENSG00000167632:ENST00000438773:exon11:c.C1692T:p.N564N Score=533;Name=lod=196 NA 8q24.3 NA NA NA NA rs12549048 0.33 0.33 0.294 0.355831 0.172 0.6171 0.4006 0.2443 0.3947 0.17 0.57 0.38 0.24 0.2676 0.57 . . . . . . . . 0.000 P . . . . -0.911 T 0.000 T . 1.079 9.404 3.87 0.748 0.202 4.524 1.078845 NA NA 0.176279 0.229233 NA 0.355 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118668.2;CLNDSDB=.;CLNDSDBID=. 9.0507876 747 6 150209717 150209717 C G exonic RAET1E NA nonsynonymous SNV RAET1E:NM_001243325:exon4:c.G601C:p.V201L,RAET1E:NM_139165:exon4:c.G709C:p.V237L exonic ENSG00000164520 NA nonsynonymous SNV ENSG00000164520:ENST00000357183:exon4:c.G709C:p.V237L,ENSG00000164520:ENST00000367363:exon4:c.G601C:p.V201L NA NA 6q25.1 NA NA NA NA rs2342767 0.55 0.55 0.539 0.546126 0.4195 0.8859 0.5043 0.4554 0.4785 0.41 0.87 0.51 0.43 0.4631 0.87 0.07 T 0.066 B 0.058 B 0.018 N 1.000 P 0.55 N 5.2 T -0.918 T 0.001 T 0.235 0.419 6.278 -4.24 -1.138 -1.787 1.408 0.419345 NA 0.07 0.40186 0.457331 NA 0.587 NA 9.0488734 747 2 231077676 231077676 G A exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon4:c.C383T:p.A128V,SP110:NM_004510:exon4:c.C383T:p.A128V,SP110:NM_080424:exon4:c.C383T:p.A128V,SP110:NM_001185015:exon5:c.C401T:p.A134V exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000258381:exon4:c.C383T:p.A128V,ENSG00000135899:ENST00000258382:exon4:c.C383T:p.A128V,ENSG00000135899:ENST00000358662:exon4:c.C383T:p.A128V,ENSG00000135899:ENST00000392048:exon4:c.C383T:p.A128V,ENSG00000135899:ENST00000455674:exon4:c.C245T:p.A82V,ENSG00000135899:ENST00000409815:exon5:c.C383T:p.A128V,ENSG00000135899:ENST00000540870:exon5:c.C401T:p.A134V NA NA 2q37.1 NA NA NA NA rs11556887 0.07 0.07 0.061 0.0966454 0.0875 0.0764 0.049 0.0166 0.2689 0.09 0.08 0.07 0.01 0.104 0.094 0.28 T 0.999 D 0.96 D 0.029 N 1.000 N 1.795 L 3.03 T -1.053 T 0.002 T 0.4 3.013 16.05 -1.09 -0.221 0.122 1.460 3.013296 3.013296 0.01 0.093605 0.027916 ID=COSM149089;OCCURENCE=1(stomach) 0.08 NA 9.0482284 747 3 167506937 167506937 C G exonic SERPINI1 NA nonsynonymous SNV SERPINI1:NM_001122752:exon2:c.C21G:p.F7L,SERPINI1:NM_005025:exon2:c.C21G:p.F7L exonic ENSG00000163536 NA nonsynonymous SNV ENSG00000163536:ENST00000295777:exon2:c.C21G:p.F7L,ENSG00000163536:ENST00000446050:exon2:c.C21G:p.F7L,ENSG00000163536:ENST00000472747:exon2:c.C21G:p.F7L,ENSG00000163536:ENST00000472941:exon2:c.C21G:p.F7L Score=422;Name=lod=69 NA 3q26.1 NA NA NA NA rs33917740 0.11 0.11 0.122 0.114217 0.1004 0.0516 0.1542 0.2057 0.0409 0.1 0.06 0.12 0.2 0.0979 0.2 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.01 N -0.98 T -1.060 T 0.000 T 0.303 -0.801 0.675 1.81 0.572 1.117 10.490 -0.800592 NA 1 0.08814 0.198593 NA 0.116 NA 9.0468934 747 4 123664427 123664427 G C exonic BBS12 NA synonymous SNV BBS12:NM_152618:exon2:c.G1380C:p.V460V,BBS12:NM_001178007:exon3:c.G1380C:p.V460V exonic ENSG00000181004 NA synonymous SNV ENSG00000181004:ENST00000314218:exon2:c.G1380C:p.V460V,ENSG00000181004:ENST00000542236:exon3:c.G1380C:p.V460V Score=317;Name=lod=26 NA 4q27 Score=863;Name=V$CEBPB_02 Name=GATA-2 Name=4 NA rs13135766 0.11 0.11 0.101 0.0946486 0.2177 NA 0.1081 0.0484 0.1186 0.22 NA 0.12 0.06 0.1728 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79714 NA NA 0.230349 0.066727 NA 0.13 NA 9.0458176 747 1 17586134 17586134 A G exonic PADI3 NA nonsynonymous SNV PADI3:NM_016233:exon2:c.A154G:p.I52V exonic ENSG00000142619 NA nonsynonymous SNV ENSG00000142619:ENST00000375460:exon2:c.A154G:p.I52V NA NA 1p36.13 NA Name=CTCF,AP-2gamma,AP-2alpha Name=4 NA rs3750300 0.11 0.11 0.091 0.133986 0.0865 0.1577 0.1354 0.0787 0.2321 0.08 0.16 0.14 0.08 0.1095 0.16 1 T 0.0 B 0.003 B 0.000 N 1.000 P 0.115 N 3.08 T -0.909 T 0.000 T 0.028 -2.37 0.004 0.158 -0.244 0.026 9.231 -2.370297 NA 1 0.09186 0.083296 NA 0.094 NA 9.0454734 748 8 1616640 1616640 G A exonic DLGAP2 NA synonymous SNV DLGAP2:NM_001277161:exon6:c.G1716A:p.P572P,DLGAP2:NM_004745:exon6:c.G1716A:p.P572P exonic ENSG00000198010 NA synonymous SNV ENSG00000198010:ENST00000421627:exon6:c.G1716A:p.P572P NA NA 8p23.3 Score=851;Name=V$ARP1_01 NA NA NA rs4565482 0.09 0.09 0.085 0.0732827 0.1958 0.003 0.0951 0.0106 0.089 0.19 0.0017 0.13 0.01 0.2227 0.2 . . . . . . . . 0.000 P . . . . -1.085 T 0.000 T . -0.183 3.107 -11.1 -2.726 -3.479 11.144 -0.183454 NA NA 0.205018 0.038424 ID=COSM1132804,COSM1132803;OCCURENCE=1(prostate) 0.13 NA 9.0431486 748 1 45797505 45797505 C G exonic MUTYH NA nonsynonymous SNV MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H exonic ENSG00000132781 NA nonsynonymous SNV ENSG00000132781:ENST00000467459:exon4:c.G347C:p.S116T,ENSG00000132781:ENST00000412971:exon7:c.G546C:p.Q182H,ENSG00000132781:ENST00000354383:exon12:c.G933C:p.Q311H,ENSG00000132781:ENST00000355498:exon12:c.G930C:p.Q310H,ENSG00000132781:ENST00000372098:exon12:c.G1005C:p.Q335H,ENSG00000132781:ENST00000372100:exon12:c.G963C:p.Q321H,ENSG00000132781:ENST00000372110:exon12:c.G975C:p.Q325H,ENSG00000132781:ENST00000372115:exon12:c.G972C:p.Q324H,ENSG00000132781:ENST00000448481:exon12:c.G963C:p.Q321H,ENSG00000132781:ENST00000450313:exon12:c.G1014C:p.Q338H,ENSG00000132781:ENST00000456914:exon12:c.G930C:p.Q310H,ENSG00000132781:ENST00000372104:exon13:c.G930C:p.Q310H NA NA 1p34.1 NA NA NA NA rs3219489 0.32 0.32 0.303 0.313498 0.2445 0.3909 0.4841 0.2579 0.2587 0.24 0.42 0.41 0.25 0.2967 0.42 0.14 T 0.645 P 0.18 B 0.038 N 0.000 P 2.125 M 3.23 T -0.933 T 0.000 T 0.09 -0.39 2.17 1.26 0.240 0.051 2.473 -0.390088 NA 0.15 0.249186 0.263744 NA 0.333 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=single|single|single;CLNACC=RCV000034684.1|RCV000079500.2|RCV000131427.1;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|C0027672 9.0429474 748 5 159820931 159820931 C A exonic C5orf54 NA nonsynonymous SNV C5orf54:NM_022090:exon2:c.G1567T:p.A523S exonic ENSG00000221886 NA nonsynonymous SNV ENSG00000221886:ENST00000408953:exon2:c.G1567T:p.A523S,ENSG00000221886:ENST00000523213:exon3:c.G1567T:p.A523S Score=655;Name=lod=612 Name=Weight loss (gastric bypass surgery) 5q33.3 NA NA NA NA rs10515808 0.06 0.06 0.062 0.0517173 0.1143 0.001 0.0692 0.0242 0.0644 0.11 0.0017 0.07 0.02 0.0787 0.11 1 T 0.0 B 0.0 B . . 1.000 P -0.805 N 2.04 T -0.957 T 0.000 T 0.069 -0.705 0.955 1.03 0.261 0.468 5.122 -0.705164 NA 0.8 0.102442 0.039946 NA 0.022 NA 9.0378914 748 18 61160320 61160320 G C exonic SERPINB5 NA nonsynonymous SNV SERPINB5:NM_002639:exon5:c.G559C:p.V187L exonic ENSG00000206075 NA nonsynonymous SNV ENSG00000206075:ENST00000382771:exon5:c.G559C:p.V187L,ENSG00000206075:ENST00000489441:exon5:c.G559C:p.V187L Score=500;Name=lod=144 NA 18q21.33 NA NA Name=9 NA rs2289520 0.24 0.24 0.264 0.308906 0.0785 0.2222 0.1527 0.6316 0.3098 0.07 0.19 0.12 0.63 0.1515 0.63 0.91 T 0.018 B 0.01 B 0.058 N 0.833 P 0.185 N 2.28 T -0.961 T 0.000 T 0.091 0.132 4.71 0.338 0.113 0.260 9.332 0.131937 NA 0.66 0.065581 0.540172 NA 0.326 NA 9.0377524 748 2 231077110 231077110 C T exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon5:c.G619A:p.E207K,SP110:NM_004510:exon5:c.G619A:p.E207K,SP110:NM_080424:exon5:c.G619A:p.E207K,SP110:NM_001185015:exon6:c.G637A:p.E213K exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000258381:exon5:c.G619A:p.E207K,ENSG00000135899:ENST00000258382:exon5:c.G619A:p.E207K,ENSG00000135899:ENST00000358662:exon5:c.G619A:p.E207K,ENSG00000135899:ENST00000392048:exon5:c.G619A:p.E207K,ENSG00000135899:ENST00000409815:exon6:c.G619A:p.E207K,ENSG00000135899:ENST00000540870:exon6:c.G637A:p.E213K NA NA 2q37.1 NA NA NA NA rs9061 0.12 0.12 0.099 0.130591 0.0895 0.1726 0.0476 0.0681 0.273 0.09 0.21 0.07 0.08 0.1142 0.21 0.57 T 0.049 B 0.008 B 0.145 N 1.000 P -0.46 N 2.88 T -0.952 T 0.000 T 0.448 -0.265 2.728 -4.55 -1.181 -0.451 5.213 -0.265138 NA 0.28 0.093837 0.077621 ID=COSM149088;OCCURENCE=1(stomach) 0.109 NA 9.0357964 748 2 101587455 101587455 C T exonic NPAS2 NA synonymous SNV NPAS2:NM_002518:exon12:c.C1059T:p.Y353Y exonic ENSG00000170485 NA synonymous SNV ENSG00000170485:ENST00000335681:exon12:c.C1059T:p.Y353Y,ENSG00000170485:ENST00000542504:exon12:c.C1254T:p.Y418Y NA NA 2q11.2 NA NA NA NA rs1562313 0.24 0.24 0.233 0.236621 0.2256 0.2808 0.1095 0.3033 0.2025 0.24 0.25 0.12 0.31 0.1978 0.31 . . . . . . . . 0.000 P . . . . -1.014 T 0.000 T . -1.177 0.085 -8.22 -2.172 -1.204 20.707 -1.177368 NA NA 0.207791 0.270086 NA 0.181 NA 9.0354756 749 1 236381825 236381825 G C exonic ERO1LB NA nonsynonymous SNV ERO1LB:NM_019891:exon16:c.C1395G:p.H465Q exonic ENSG00000086619 NA nonsynonymous SNV ENSG00000086619:ENST00000354619:exon16:c.C1395G:p.H465Q Score=558;Name=lod=248 NA 1q42.3 NA NA NA NA rs1055851 0.57 0.57 0.55 0.569289 0.4006 0.8839 0.5821 0.4803 0.5297 0.38 0.89 0.58 0.47 0.4961 0.89 0.42 T 0.001 B 0.001 B 0.002 N 0.000 P -0.205 N 1.57 T -0.969 T 0.000 T 0.07 1.221 9.953 4.62 2.600 0.371 10.575 1.22076 NA 0.28 0.402126 0.488176 NA 0.529 NA 9.0345074 749 3 27297816 27297816 G C exonic NEK10 NA synonymous SNV NEK10:NM_199347:exon24:c.C2061G:p.T687T exonic ENSG00000163491 NA synonymous SNV ENSG00000163491:ENST00000357467:exon5:c.C252G:p.T84T,ENSG00000163491:ENST00000341435:exon24:c.C2061G:p.T687T,ENSG00000163491:ENST00000429845:exon24:c.C2061G:p.T687T Score=582;Name=lod=308 NA 3p24.1 NA NA NA NA rs3213930 0.57 0.57 0.584 0.592452 0.5388 0.2292 0.6138 0.9728 0.4928 0.53 0.22 0.64 0.96 0.5492 0.96 . . . . . . . . 0.000 P . . . . -1.096 T 0.000 T . 0.805 8.233 -6.92 -2.119 -1.914 10.391 0.805083 NA NA 0.544186 0.896685 ID=COSM1179804,COSM1179803,COSM1179802;OCCURENCE=1(prostate) 0.623 NA 9.0344806 749 8 103573006 103573006 G A exonic ODF1 NA nonsynonymous SNV ODF1:NM_024410:exon2:c.G647A:p.S216N exonic ENSG00000155087 NA nonsynonymous SNV ENSG00000155087:ENST00000285402:exon2:c.G647A:p.S216N,ENSG00000155087:ENST00000518835:exon2:c.G26A:p.S9N NA NA 8q22.3 NA NA NA NA rs2916569 0.55 0.55 0.61 0.542332 0.6481 0.3165 0.5216 0.6233 0.5716 0.65 0.32 0.54 0.67 0.6547 0.67 1 T 0.0 B 0.0 B 0.691 N 1.000 P 0.14 N 1.84 T -0.979 T 0.000 T 0.025 -1.963 0.007 -7.32 -1.156 -2.159 15.416 -1.962775 NA 0.54 NA NA NA 0.58 NA 9.0305334 749 10 123970569 123970569 C T exonic TACC2 NA nonsynonymous SNV TACC2:NM_006997:exon3:c.C863T:p.A288V,TACC2:NM_206860:exon3:c.C863T:p.A288V,TACC2:NM_206861:exon6:c.C1067T:p.A356V,TACC2:NM_206862:exon9:c.C6629T:p.A2210V exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000505639:exon1:c.C152T:p.A51V,ENSG00000138162:ENST00000260733:exon3:c.C863T:p.A288V,ENSG00000138162:ENST00000360561:exon3:c.C863T:p.A288V,ENSG00000138162:ENST00000368999:exon3:c.C863T:p.A288V,ENSG00000138162:ENST00000369004:exon3:c.C863T:p.A288V,ENSG00000138162:ENST00000514539:exon3:c.C914T:p.A305V,ENSG00000138162:ENST00000358010:exon5:c.C1067T:p.A356V,ENSG00000138162:ENST00000513429:exon6:c.C1067T:p.A356V,ENSG00000138162:ENST00000453444:exon7:c.C6641T:p.A2214V,ENSG00000138162:ENST00000334433:exon8:c.C6629T:p.A2210V,ENSG00000138162:ENST00000515273:exon8:c.C6641T:p.A2214V,ENSG00000138162:ENST00000515603:exon8:c.C6494T:p.A2165V,ENSG00000138162:ENST00000369005:exon9:c.C6629T:p.A2210V NA NA 10q26.13 NA NA NA NA rs2295874 0.1 0.1 0.089 0.103634 0.0765 0.1161 0.1354 0.0613 0.1534 0.08 0.13 0.12 0.08 0.1156 0.14 0.29 T 0.245 B 0.077 B 0.570 N 0.998 P 1.05 L 4.16 T -1.001 T 0.000 T 0.263 -0.97 0.307 2.66 0.686 1.792 6.222 -0.969967 NA 0.35 0.113488 0.070746 NA 0.181 NA 9.0277454 749 14 69259662 69259662 C A exonic ZFP36L1 NA synonymous SNV ZFP36L1:NM_001244701:exon2:c.G201T:p.T67T exonic ENSG00000185650 NA synonymous SNV ENSG00000185650:ENST00000553375:exon2:c.G201T:p.T67T Score=555;Name=lod=241 NA 14q24.1 Score=974;Name=V$TCF11_01 Name=YY1_(C-20),SMC3_(ab9263),Pol2(phosphoS2),Pol2,HMGN3,POU2F2,E2F6_(H-50),ETS1,TAF1,GTF2F1_(RAP-74),Oct-2,Pol2-4H8,Sin3Ak-20,YY1,Ini1,Pol2(b),TBP,TCF12,USF-1,PAX5-C20,NFKB,HEY1,ZEB1_(SC-25388),c-Myc Name=145 NA rs1051533 0.19 0.19 0.224 0.203474 0.2127 0.0089 0.1513 0.3888 0.181 0.2 0.01 0.15 0.4 0.2037 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212618 NA NA 0.222791 0.359283 NA 0.275 NA 9.0274756 749 5 79025634 79025634 G A exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.G1046A:p.G349D exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.G1046A:p.G349D NA NA 5q14.1 NA NA Name=2 NA rs1366271 0.24 0.24 0.294 0.234625 0.0815 0.3621 0.072 0.441 0.0971 0.08 0.41 0.07 0.44 0.1392 0.44 1 T 0.0 B 0.0 B 0.246 N 1.000 P -0.805 N 1.57 T -0.947 T 0.000 T 0.059 -0.442 1.948 2.82 0.060 0.303 5.989 -0.442042 NA 1 0.085962 0.37289 NA 0.283 NA 9.0266714 749 19 8993018 8993018 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon67:c.C41741T:p.P13914L exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000380951:exon19:c.C1664T:p.P555L,ENSG00000181143:ENST00000397910:exon67:c.C41741T:p.P13914L NA NA 19p13.2 NA NA NA NA rs61742668 0.05 0.05 0.047 0.0503195 0.1173 0.001 0.0778 0.0098 0.0675 0.09 NA 0.08 0.01 0.0788 0.11 0.61 T 0.991 D 0.995 D . . . . 1.875 L 1.63 T -1.038 T 0.003 T 0.039 1.829 12.07 -1.49 -0.361 0.814 2.795 1.829017 1.829017 NA 0.111958 0.018538 NA 0.051 NA 9.0252754 750 6 32188383 32188383 T C exonic NOTCH4 NA nonsynonymous SNV NOTCH4:NM_004557:exon6:c.A958G:p.T320A exonic ENSG00000204301 NA nonsynonymous SNV ENSG00000204301:ENST00000375023:exon6:c.A958G:p.T320A NA NA 6p21.32 NA NA NA NA rs422951 0.33 0.33 0.33 0.343051 0.4553 0.2212 0.3112 0.2958 0.4397 0.45 0.22 0.35 0.28 0.4035 0.45 0.19 T 0.0 B 0.009 B 0.721 N 0.000 P 0.955 L -2.98 D -0.758 T 0.351 T 0.015 -0.596 1.333 -4.96 -1.001 0.081 7.561 -0.596204 NA 0.64 0.449612 0.311714 ID=COSM451253;OCCURENCE=1(breast) 0.493 NA 9.0249214 750 19 44981883 44981883 C G exonic ZNF180 NA nonsynonymous SNV ZNF180:NM_013256:exon5:c.G815C:p.C272S exonic ENSG00000167384 NA nonsynonymous SNV ENSG00000167384:ENST00000391956:exon4:c.G740C:p.C247S,ENSG00000167384:ENST00000221327:exon5:c.G815C:p.C272S,ENSG00000167384:ENST00000592529:exon5:c.G734C:p.C245S NA NA 19q13.31 NA Name=SETDB1 NA NA rs1897820 0.45 0.45 0.452 0.434505 0.4583 0.4177 0.2939 0.6218 0.274 0.45 0.45 0.33 0.56 0.4224 0.59 0.2 T 0.0 B 0.0 B 0.098 N 1.000 P -0.345 N 3.43 T -1.037 T 0.000 T 0.013 -0.275 2.681 4.2 1.237 0.026 9.886 -0.275458 NA 0.56 0.428688 0.594871 NA 0.493 NA 9.0239454 750 3 111962851 111962851 T C exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon11:c.A1270G:p.T424A exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon10:c.A1126G:p.T376A,ENSG00000172139:ENST00000305815:exon11:c.A1270G:p.T424A Score=378;Name=lod=46 NA 3q13.2 NA NA NA NA rs6768523 0.31 0.31 0.278 0.32488 0.2376 0.3304 0.3963 0.3427 0.3344 0.24 0.32 0.37 0.34 0.3032 0.37 0.28 T 0.454 P 0.281 B 0.944 N 0.947 P 1.245 L -1.04 T -1.068 T 0.000 T 0.046 -0.285 2.635 3.96 0.896 0.071 7.641 -0.285462 NA 0.56 0.270698 0.332501 NA 0.304 NA 9.0218354 750 8 120431506 120431506 G A exonic NOV NA nonsynonymous SNV NOV:NM_002514:exon4:c.G698A:p.R233H exonic ENSG00000136999 NA nonsynonymous SNV ENSG00000136999:ENST00000259526:exon4:c.G698A:p.R233H NA NA 8q24.12 Score=832;Name=V$CDPCR3_01 NA NA NA rs11538929 0.05 0.05 0.05 0.0467252 0.1133 NA 0.0432 0.0159 0.0706 0.11 NA 0.06 0.01 0.0894 0.11 0.08 T 0.048 B 0.02 B 0.028 N 1.000 N 2.325 M 0.72 T -1.052 T 0.003 T 0.015 2.261 13.52 -0.365 -0.379 -0.219 1.42 2.260816 2.260816 0.06 0.111977 0.030867 NA 0.043 NA 9.0186564 750 5 79027605 79027605 T C exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.T3017C:p.V1006A exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.T3017C:p.V1006A NA NA 5q14.1 NA NA NA NA rs6893869 0.29 0.29 0.336 0.273962 0.0815 0.3621 0.085 0.5832 0.0971 0.08 0.41 0.09 0.62 0.1474 0.62 1 T 0.236 B 0.031 B 0.750 N 1.000 P 0.68 N 0.18 T -0.914 T 0.000 T 0.072 1.065 9.347 3.3 1.005 0.769 2.608 1.064534 NA 0.51 0.086951 0.49584 ID=COSM149866;OCCURENCE=1(stomach) 0.312 NA 9.0174824 750 15 89398631 89398631 T A exonic ACAN NA nonsynonymous SNV ACAN:NM_001135:exon12:c.T2815A:p.S939T,ACAN:NM_013227:exon12:c.T2815A:p.S939T exonic ENSG00000157766 NA nonsynonymous SNV ENSG00000157766:ENST00000561243:exon11:c.T2815A:p.S939T,ENSG00000157766:ENST00000352105:exon12:c.T2815A:p.S939T,ENSG00000157766:ENST00000439576:exon12:c.T2815A:p.S939T,ENSG00000157766:ENST00000559004:exon12:c.T2815A:p.S939T NA NA 15q26.1 NA NA NA NA rs938609 0.43 0.43 0.414 0.392173 0.6521 0.2073 0.3804 0.3389 0.3957 0.67 0.18 0.46 0.32 0.5172 0.67 0.48 T 0.992 D 0.779 P . . 1.000 P 1.955 M -4.28 D -0.929 T 0.000 T 0.029 2.678 14.92 1.18 0.018 -0.086 4.250 2.678067 2.678067 0.24 0.647766 0.391956 ID=COSM146362;OCCURENCE=1(stomach) 0.406 NA 9.0162674 750 10 96827030 96827030 C T exonic CYP2C8 NA nonsynonymous SNV CYP2C8:NM_001198854:exon2:c.G110A:p.R37K,CYP2C8:NM_000770:exon3:c.G416A:p.R139K,CYP2C8:NM_001198853:exon3:c.G206A:p.R69K,CYP2C8:NM_001198855:exon4:c.G206A:p.R69K exonic ENSG00000138115 NA nonsynonymous SNV ENSG00000138115:ENST00000535898:exon2:c.G110A:p.R37K,ENSG00000138115:ENST00000539050:exon2:c.G158A:p.R53K,ENSG00000138115:ENST00000371270:exon3:c.G416A:p.R139K,ENSG00000138115:ENST00000527420:exon3:c.G416A:p.R139K Score=472;Name=lod=110 NA 10q23.33 NA NA NA NA rs11572080 0.06 0.06 0.049 0.0457268 0.1183 0.001 0.0994 0.0083 0.0297 0.11 0.0035 0.13 0.01 0.0826 0.13 0.28 T 0.064 B 0.161 B 0.000 U 0.381 P 1.33 L 2.75 T -1.014 T 0.000 T 0.132 2.846 15.48 2.8 0.594 0.356 9.461 2.84599 2.84599 0.13 0.116512 0.024512 NA 0.094 NA 9.0159214 750 17 4720469 4720469 C T exonic PLD2 NA nonsynonymous SNV PLD2:NM_001243108:exon17:c.C1730T:p.T577I,PLD2:NM_002663:exon17:c.C1730T:p.T577I exonic ENSG00000129219 NA nonsynonymous SNV ENSG00000129219:ENST00000576983:exon2:c.C32T:p.T11I,ENSG00000129219:ENST00000263088:exon17:c.C1730T:p.T577I,ENSG00000129219:ENST00000572940:exon17:c.C1730T:p.T577I NA NA 17p13.2 NA NA NA NA rs1052748 0.29 0.29 0.256 0.2498 0.4443 0.1062 0.415 0.1051 0.2761 0.47 0.09 0.44 0.14 0.3925 0.48 0.4 T 0.001 B 0.002 B 0.424 N 1.000 P 0.28 N 2.01 T -0.964 T 0.000 T 0.258 -0.961 0.323 -8.96 -2.558 -1.345 5.764 -0.960831 NA 0.24 0.48093 0.166818 NA 0.355 NA 9.0156034 751 11 404317 404317 C T exonic PKP3 NA synonymous SNV PKP3:NM_007183:exon12:c.C2352T:p.F784F exonic ENSG00000184363 NA synonymous SNV ENSG00000184363:ENST00000331563:exon12:c.C2352T:p.F784F Score=420;Name=lod=68 NA 11p15.5 Score=967;Name=V$CETS1P54_01 NA NA NA rs1134578 0.44 0.44 0.403 0.451478 0.5586 0.3542 0.5893 0.3147 0.5286 0.55 0.35 0.56 0.28 0.5364 0.56 . . . . . . . . 0.000 P . . . . -0.887 T 0.000 T . 0.76 8.024 3.36 0.931 2.547 9.567 0.760279 NA NA 0.559599 0.366515 NA 0.42 NA 9.0120676 751 8 27634064 27634064 C T exonic ESCO2 NA nonsynonymous SNV ESCO2:NM_001017420:exon3:c.C239T:p.A80V exonic ENSG00000171320 NA nonsynonymous SNV ENSG00000171320:ENST00000305188:exon3:c.C239T:p.A80V,ENSG00000171320:ENST00000519637:exon3:c.C239T:p.A80V,ENSG00000171320:ENST00000522378:exon3:c.C239T:p.A80V,ENSG00000171320:ENST00000523566:exon3:c.C239T:p.A80V Score=499;Name=lod=142 NA 8p21.1 NA NA NA NA rs4732748 0.13 0.13 0.115 0.139377 0.1074 0.244 0.0879 0.0961 0.1595 0.09 0.24 0.09 0.11 0.1148 0.24 0.51 T 0.023 B 0.018 B 0.075 N 0.983 P 1.545 L 0.71 T -1.060 T 0.000 T 0.204 0.246 5.329 1.8 0.115 -0.030 5.705 0.246103 NA 0.29 0.099302 0.097594 ID=COSM150477;OCCURENCE=1(stomach) 0.188 CLINSIG=non-pathogenic;CLNDBN=Roberts-SC_phocomelia_syndrome;CLNREVSTAT=single;CLNACC=RCV000020402.1;CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1153:C0392475:268300:269000:ORPHA3103:48718006 9.0118314 751 14 24883887 24883887 G A exonic NYNRIN NA nonsynonymous SNV NYNRIN:NM_025081:exon9:c.G2932A:p.A978T exonic ENSG00000205978 NA nonsynonymous SNV ENSG00000205978:ENST00000382554:exon9:c.G2932A:p.A978T NA Name=LDL cholesterol 14q12 NA NA NA NA rs8017377 0.25 0.25 0.247 0.244409 0.4811 0.0496 0.255 0.1218 0.3599 0.46 0.05 0.27 0.12 0.3758 0.46 0.25 T 0.002 B 0.001 B . . 1.000 P 0.69 N 2.8 T -0.910 T 0.000 T 0.029 1.239 10.03 -9.08 -1.685 -0.409 0.388 1.239423 1.239423 0.13 0.464853 0.157045 NA 0.362 NA 9.0115804 751 4 169928842 169928842 G T exonic CBR4 NA nonsynonymous SNV CBR4:NM_032783:exon2:c.C208A:p.L70M exonic ENSG00000145439 NA nonsynonymous SNV ENSG00000145439:ENST00000306193:exon2:c.C208A:p.L70M,ENSG00000145439:ENST00000504480:exon2:c.C208A:p.L70M,ENSG00000145439:ENST00000504561:exon2:c.C199A:p.L67M Score=555;Name=lod=240 NA 4q32.3 NA NA NA NA rs2877380 0.74 0.74 0.718 0.720048 0.7903 0.9712 0.7032 0.4206 0.8057 0.81 0.96 0.69 0.42 0.7685 0.96 . . 0.005 B 0.004 B 0.000 N 1.000 P 1.355 L -2.46 D -0.951 T 0.000 T 0.094 2.617 14.71 5.56 0.944 3.215 12.926 2.616757 2.616757 0.38 0.763378 0.480027 NA 0.623 NA 9.0111554 751 11 124006993 124006993 G A exonic VWA5A NA nonsynonymous SNV VWA5A:NM_014622:exon12:c.G1517A:p.R506K,VWA5A:NM_001130142:exon13:c.G1517A:p.R506K exonic ENSG00000110002 NA nonsynonymous SNV ENSG00000110002:ENST00000392748:exon12:c.G1517A:p.R506K,ENSG00000110002:ENST00000456829:exon13:c.G1517A:p.R506K NA NA 11q24.2 NA NA NA NA rs2276053 0.11 0.11 0.114 0.119409 0.1014 0.0575 0.0764 0.1861 0.1421 0.11 0.05 0.1 0.18 0.1149 0.18 0.94 T 0.0 B 0.0 B 0.046 N 1.000 P -1.975 N 3.87 T -0.966 T 0.000 T 0.01 -1.058 0.186 -10.7 -3.343 -2.735 2.650 -1.057595 NA 1 0.107118 0.169696 NA 0.181 NA 9.0099154 751 1 19652874 19652874 G A exonic PQLC2 NA nonsynonymous SNV PQLC2:NM_001040125:exon5:c.G518A:p.G173D,PQLC2:NM_001040126:exon5:c.G323A:p.G108D,PQLC2:NM_017765:exon6:c.G518A:p.G173D exonic ENSG00000040487 NA nonsynonymous SNV ENSG00000040487:ENST00000432465:exon3:c.G233A:p.G78D,ENSG00000040487:ENST00000375153:exon5:c.G518A:p.G173D,ENSG00000040487:ENST00000400548:exon5:c.G323A:p.G108D,ENSG00000040487:ENST00000375155:exon6:c.G518A:p.G173D NA NA 1p36.13 NA Name=Egr-1 Name=5 NA rs41264079 0.06 0.06 0.059 0.0495208 0.1243 0.0089 0.0447 0.0061 0.0767 0.13 0.0017 0.05 0.01 0.0893 0.13 0.68 T 0.036 B 0.011 B 0.123 N 1.000 N 1.48 L 0.92 T -1.070 T 0.001 T 0.177 1.167 9.751 1.03 0.623 0.561 6.784 1.167406 NA 0.15 0.110956 0.018611 ID=COSM424910;OCCURENCE=2(breast) 0.043 NA 9.0087774 751 19 41522715 41522715 C T exonic CYP2B6 NA nonsynonymous SNV CYP2B6:NM_000767:exon9:c.C1459T:p.R487C exonic ENSG00000197408 NA nonsynonymous SNV ENSG00000197408:ENST00000330446:exon5:c.C859T:p.R287C,ENSG00000197408:ENST00000593831:exon5:c.C751T:p.R251C,ENSG00000197408:ENST00000324071:exon9:c.C1459T:p.R487C NA NA 19q13.2 Score=850;Name=V$HAND1E47_01 NA NA NA rs3211371 0.05 0.05 0.04 0.0535144 0.1123 0.003 0.072 0.0113 0.089 0.1 0.0017 0.07 0.01 0.0909 0.12 1 T 0.025 B 0.01 B 0.837 N 1.000 N -1.14 N -0.25 T -1.086 T 0.001 T 0.039 0.023 4.132 -6.04 -0.883 -0.681 4.282 0.022744 NA 1 0.121744 0.03064 NA 0.116 NA 9.0083894 752 15 65108504 65108504 A T exonic PIF1 NA nonsynonymous SNV PIF1:NM_025049:exon13:c.T1919A:p.I640N exonic ENSG00000140451 NA nonsynonymous SNV ENSG00000140451:ENST00000268043:exon13:c.T1919A:p.I640N,ENSG00000140451:ENST00000559239:exon13:c.T1919A:p.I640N Score=284;Name=lod=19 NA 15q22.31 NA Name=EBF NA NA rs17802279 0.3 0.3 0.314 0.276957 0.4891 0.1101 0.2608 0.2587 0.2669 0.49 0.08 0.3 0.29 0.3766 0.49 1 T 0.0 B 0.0 B . . 0.999 P 0 N -0.05 T -0.930 T 0.000 T 0.105 -1.028 0.222 3.27 0.070 0.543 2.698 -1.028031 NA 1 0.463247 0.307675 NA 0.413 NA 9.0043864 752 19 53344426 53344426 T C exonic ZNF468 NA nonsynonymous SNV ZNF468:NM_001008801:exon4:c.A1121G:p.H374R exonic ENSG00000204604 NA nonsynonymous SNV ENSG00000204604:ENST00000390651:exon4:c.A962G:p.H321R,ENSG00000204604:ENST00000595646:exon4:c.A1121G:p.H374R,ENSG00000204604:ENST00000396409:exon5:c.A962G:p.H321R NA NA 19q13.41 NA Name=ZNF274,SETDB1 Name=2 NA rs12462929 0.09 0.09 0.077 0.0970447 0.1163 0.0496 0.1124 0.0998 0.1115 0.11 0.05 0.1 0.08 0.1069 0.11 0.27 T 0.0 B 0.0 B . . 1.000 P -1.835 N 2.31 T -0.959 T 0.000 T 0.016 -0.959 0.325 0.482 -0.672 -0.339 3.240 -0.959394 NA 0.84 0.107442 0.096232 NA 0.145 NA 9.0026914 752 3 108475974 108475974 G A exonic RETNLB NA nonsynonymous SNV RETNLB:NM_032579:exon1:c.C59T:p.P20L exonic ENSG00000163515 NA nonsynonymous SNV ENSG00000163515:ENST00000295755:exon1:c.C59T:p.P20L NA NA 3q13.13 NA NA Name=3 NA rs11708527 0.16 0.16 0.161 0.200679 0.2783 0.0377 0.232 0.1165 0.3804 0.28 0.04 0.21 0.09 0.2666 0.29 0.1 T 0.763 P 0.092 B 0.209 N 1.000 P 1.545 L 0.99 T -0.997 T 0.000 T 0.101 1.834 12.09 2.52 0.450 0.091 5.155 1.833577 1.833577 0.09 0.28686 0.146164 NA 0.13 NA 9.0015734 752 12 48866585 48866585 A C exonic ANP32D NA nonsynonymous SNV ANP32D:NM_012404:exon1:c.A138C:p.L46F exonic ENSG00000139223 NA nonsynonymous SNV ENSG00000139223:ENST00000266594:exon1:c.A138C:p.L46F Score=694;Name=lod=883 NA 12q13.11 NA NA NA NA rs7956679 0.28 0.28 0.227 0.290335 0.0815 0.6548 0.3357 0.1604 0.273 0.09 0.63 0.3 0.14 0.1867 0.63 1 T 0.0 B 0.0 B 0.000 N 0.999 P -1.79 N 9.01 T -0.905 T 0.000 T 0.029 -2.007 0.007 0.58 -0.422 1.160 2.090 -2.00677 NA 1 0.064535 0.155016 NA 0.174 NA 9.0005984 752 13 45148257 45148257 G A exonic TSC22D1 NA nonsynonymous SNV TSC22D1:NM_183422:exon1:c.C1954T:p.P652S exonic ENSG00000102804 NA nonsynonymous SNV ENSG00000102804:ENST00000458659:exon1:c.C1954T:p.P652S NA NA 13q14.11 NA Name=AP-2gamma Name=119 NA rs9525983 0.05 0.05 0.051 0.0501198 0.1173 0.001 0.0922 0.0068 0.0603 0.12 NA 0.05 0.01 0.092 0.12 0.92 T 0.001 B 0.002 B 0.033 N 1.000 N 0.255 N 1.49 T -1.016 T 0.001 T 0.02 -2.318 0.004 0.994 0.239 0.937 4.496 -2.318264 NA 0.5 0.123605 0.023831 NA 0.13 NA 9.0004284 752 21 45709906 45709906 C G exonic AIRE NA nonsynonymous SNV AIRE:NM_000383:exon7:c.C834G:p.S278R exonic ENSG00000160224 NA nonsynonymous SNV ENSG00000160224:ENST00000291582:exon7:c.C834G:p.S278R NA NA 21q22.3 NA NA NA NA rs1800520 0.23 0.23 0.228 0.228235 0.0835 0.3462 0.1268 0.3064 0.2219 0.09 0.38 0.14 0.33 0.1579 0.38 0.56 T 0.0 B 0.0 B 0.028 N 1.000 P -1.245 N -3.47 D -0.989 T 0.000 T 0.108 -1.096 0.147 1.58 0.258 -0.271 3.242 -1.095963 NA 0.37 0.091554 0.284013 NA 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116303.2;CLNDSDB=.;CLNDSDBID=. 9.0003794 752 16 633125 633125 T C exonic PIGQ NA nonsynonymous SNV PIGQ:NM_148920:exon10:c.T1774C:p.C592R exonic ENSG00000007541 NA nonsynonymous SNV ENSG00000007541:ENST00000026218:exon10:c.T1774C:p.C592R NA NA 16p13.3 NA Name=c-Myc,CTCF Name=4 NA rs1045277 0.52 0.52 0.486 0.530751 0.4324 0.6369 0.4885 0.4758 0.6268 0.45 0.63 0.49 0.51 0.4907 0.63 . . 0.0 B 0.0 B . . 1.000 P 0 N 1.94 T -0.983 T 0.000 T 0.049 -0.642 1.168 1.68 0.306 -2.106 4.255 -0.641783 NA 0.78 0.409884 0.470014 ID=COSM435483;OCCURENCE=1(breast),1(large_intestine) 0.428 NA 9.0003494 752 6 116938232 116938232 C G exonic RSPH4A NA nonsynonymous SNV RSPH4A:NM_001010892:exon1:c.C446G:p.T149S,RSPH4A:NM_001161664:exon1:c.C446G:p.T149S exonic ENSG00000111834 NA nonsynonymous SNV ENSG00000111834:ENST00000229554:exon1:c.C446G:p.T149S,ENSG00000111834:ENST00000368580:exon1:c.C446G:p.T149S,ENSG00000111834:ENST00000368581:exon1:c.C446G:p.T149S NA NA 6q22.1 Score=803;Name=V$CEBP_C NA NA NA rs13213314 0.06 0.06 0.04 0.0371406 0.1292 NA 0.049 0.0091 0.0102 0.13 NA 0.05 0.02 0.0814 0.13 0.56 T 0.004 B 0.005 B 0.469 N 1.000 P 0.805 L 1.54 T -1.082 T 0.057 T 0.031 0.52 6.816 2.84 0.465 -0.850 5.879 0.519696 NA 0.15 0.122791 0.026782 NA 0.072 NA 8.9999424 752 4 8589023 8589023 G A exonic GPR78 NA nonsynonymous SNV GPR78:NM_080819:exon3:c.G1025A:p.R342H exonic ENSG00000155269 NA nonsynonymous SNV ENSG00000155269:ENST00000382487:exon3:c.G1025A:p.R342H NA NA 4p16.1 NA NA NA NA rs9685931 0.11 0.11 0.121 0.116813 0.1143 0.0427 0.0548 0.2035 0.1227 0.12 0.04 0.07 0.23 0.1096 0.23 0.35 T 0.0 B 0.0 B . . 1.000 P 0 N 0.08 T -1.081 T 0.000 T 0.1 -1.287 0.04 -4.03 -2.614 . 3.354 -1.286694 NA 0.35 0.109597 0.196047 ID=COSM448271;OCCURENCE=1(breast) 0.138 NA 8.9998364 752 16 57937788 57937788 T C exonic CNGB1 NA nonsynonymous SNV CNGB1:NM_001297:exon27:c.A2732G:p.K911R exonic ENSG00000070729 NA nonsynonymous SNV ENSG00000070729:ENST00000251102:exon27:c.A2732G:p.K911R,ENSG00000070729:ENST00000564448:exon27:c.A2714G:p.K905R Score=564;Name=lod=261 NA 16q21 NA NA NA NA rs2303785 0.09 0.09 0.082 0.0770767 0.1203 0.0843 0.1441 0.0091 0.0695 0.12 0.09 0.14 0.0041 0.1047 0.14 0.83 T 0.0 B 0.002 B 0.001 N 0.000 P 1.445 L -4.12 D -0.693 T 0.020 T 0.047 0.399 6.169 1.45 0.389 -0.330 5.705 0.399308 NA 1 0.109631 0.029342 NA 0.145 NA 8.9987024 752 2 171073887 171073887 G A exonic MYO3B NA synonymous SNV MYO3B:NM_001083615:exon6:c.G585A:p.P195P,MYO3B:NM_138995:exon6:c.G585A:p.P195P exonic ENSG00000071909 NA synonymous SNV ENSG00000071909:ENST00000317935:exon6:c.G585A:p.P195P,ENSG00000071909:ENST00000334231:exon6:c.G612A:p.P204P,ENSG00000071909:ENST00000408978:exon6:c.G585A:p.P195P,ENSG00000071909:ENST00000409044:exon6:c.G585A:p.P195P,ENSG00000071909:ENST00000484338:exon6:c.G612A:p.P204P NA NA 2q31.1 Score=820;Name=V$BRN2_01 NA NA NA rs2161916 0.56 0.56 0.575 0.576677 0.5636 0.5714 0.4179 0.6316 0.6339 0.58 0.57 0.47 0.59 0.5554 0.63 . . . . . . . . 0.000 P . . . . -1.097 T 0.000 T . 0.69 7.686 -7.85 -2.287 -1.854 12.064 0.690037 NA NA 0.549214 0.631113 NA 0.406 NA 8.9984526 752 3 132338346 132338346 T G exonic ACAD11 NA nonsynonymous SNV ACAD11:NM_032169:exon10:c.A1241C:p.K414T exonic ENSG00000240303 NA nonsynonymous SNV ENSG00000240303:ENST00000264990:exon10:c.A1241C:p.K414T,ENSG00000240303:ENST00000355458:exon10:c.A1241C:p.K414T,ENSG00000240303:ENST00000481970:exon10:c.A1241C:p.K414T NA NA 3q22.1 NA NA NA NA rs41272321 0.1 0.1 0.074 0.0944489 0.1143 0.12 0.1297 0.0053 0.1431 0.13 0.12 0.13 0.01 0.1154 0.13 0.01 D 0.293 B 0.155 B . . 1.000 P 1.2 L 1.94 T -0.323 T 0.069 T 0.249 1.265 10.13 2.05 0.106 0.129 3.189 1.265199 1.265199 0.03 0.105821 0.024285 NA 0.065 NA 8.9978124 752 7 131195959 131195959 C T exonic PODXL NA nonsynonymous SNV PODXL:NM_001018111:exon2:c.G334A:p.G112S,PODXL:NM_005397:exon2:c.G334A:p.G112S exonic ENSG00000128567 NA nonsynonymous SNV ENSG00000128567:ENST00000322985:exon2:c.G334A:p.G112S,ENSG00000128567:ENST00000378555:exon2:c.G334A:p.G112S,ENSG00000128567:ENST00000446198:exon2:c.G334A:p.G112S,ENSG00000128567:ENST00000537928:exon2:c.G334A:p.G112S,ENSG00000128567:ENST00000541194:exon2:c.G340A:p.G114S NA NA 7q32.3 NA NA NA NA rs3735035 0.39 0.39 0.379 0.363818 0.4354 0.6518 0.3948 0.0363 0.4141 0.46 0.61 0.36 0.06 0.4272 0.61 0.74 T 0.029 B 0.002 B 0.000 N 1.000 P 0 N 3.06 T -0.952 T 0.000 T 0.086 -0.068 3.668 -5.63 -2.759 -1.188 1.232 -0.06807 NA 0.53 0.473256 0.106673 NA 0.384 NA 8.9974774 752 4 187627792 187627792 T C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.A3190G:p.R1064G exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.A3190G:p.R1064G Score=451;Name=lod=91 NA 4q35.2 NA NA NA NA rs11939575 0.73 0.73 0.724 0.745807 0.7803 0.5 0.7176 0.907 0.7658 0.77 0.5 0.77 0.89 0.7609 0.89 1 T 0.0 B 0.0 B 0.000 N 0.996 P -2.95 N 0.54 T -0.947 T 0.000 T 0.104 -0.019 3.914 4.6 1.172 5.937 12.991 -0.019446 NA 1 0.795781 0.893072 NA 0.797 NA 8.9963524 753 10 116032519 116032519 A G exonic VWA2 NA nonsynonymous SNV VWA2:NM_001272046:exon6:c.A392G:p.E131G exonic ENSG00000165816 NA nonsynonymous SNV ENSG00000165816:ENST00000392982:exon6:c.A392G:p.E131G,ENSG00000165816:ENST00000603594:exon6:c.A392G:p.E131G Score=436;Name=lod=79 NA 10q25.3 NA NA NA NA rs597371 0.5 0.5 0.522 0.557109 0.4324 0.3373 0.4741 0.8782 0.5368 0.42 0.34 0.46 0.86 0.477 0.86 1 T 0.0 B 0.0 B 0.000 N 0.971 P -4.035 N -1.33 T -0.903 T 0.000 T 0.11 -0.689 1.007 4.28 0.556 5.047 9.054 -0.689115 NA 1 0.430233 0.800272 NA 0.551 NA 8.9937004 753 17 36358847 36358847 T A ncRNA_exonic LOC440434 NA NA NA exonic ENSG00000174093 NA nonsynonymous SNV ENSG00000174093:ENST00000544906:exon5:c.A379T:p.I127L,ENSG00000174093:ENST00000312412:exon6:c.A844T:p.I282L,ENSG00000174093:ENST00000520237:exon6:c.A844T:p.I282L,ENSG00000174093:ENST00000518004:exon7:c.A832T:p.I278L Score=716;Name=lod=1085 NA 17q12 NA Name=FOXA1_(C-20) Name=2 NA rs77355093 NA NA 0.814 0.829473 0.7604 0.8502 0.8458 0.944 0.7127 NA NA NA NA 0.746 0.76 1 T . . . . . . . . . . 4.63 T -0.988 T 0.078 T 0.267 -1.813 0.009 1.38 -0.133 1.862 3.700 -1.813199 NA 1 NA NA NA 0.725 NA 8.9936 753 18 72344509 72344509 G A exonic ZNF407 NA nonsynonymous SNV ZNF407:NM_001146189:exon1:c.G1534A:p.G512R,ZNF407:NM_001146190:exon1:c.G1534A:p.G512R,ZNF407:NM_017757:exon1:c.G1534A:p.G512R exonic ENSG00000215421 NA nonsynonymous SNV ENSG00000215421:ENST00000299687:exon1:c.G1534A:p.G512R,ENSG00000215421:ENST00000309902:exon1:c.G1534A:p.G512R,ENSG00000215421:ENST00000577538:exon1:c.G1534A:p.G512R,ENSG00000215421:ENST00000582337:exon2:c.G1534A:p.G512R NA NA 18q22.3 NA NA NA NA rs7227263 0.08 0.08 0.089 0.0676917 0.1064 0.001 0.0663 0.112 0.0378 0.12 NA 0.07 0.12 0.0969 0.14 0.31 T 0.001 B 0.0 B 0.151 U 1.000 P -0.205 N 3.44 T -0.958 T 0.000 T 0.022 0.969 8.956 -9.59 -0.515 -0.751 5.319 0.96938 NA NA 0.138145 0.099901 NA 0.072 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118932.2;CLNDSDB=.;CLNDSDBID=. 8.9918884 753 4 40778162 40778162 T G exonic NSUN7 NA nonsynonymous SNV NSUN7:NM_024677:exon7:c.T922G:p.S308A exonic ENSG00000179299 NA nonsynonymous SNV ENSG00000179299:ENST00000316607:exon7:c.T922G:p.S308A,ENSG00000179299:ENST00000381782:exon7:c.T922G:p.S308A Score=608;Name=lod=393 NA 4p14 NA NA NA NA rs2437323 0.75 0.75 0.737 0.729233 0.7714 0.5208 0.8804 0.8744 0.5971 0.78 0.53 0.88 0.89 0.7673 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.085 N 3.1 T -0.970 T 0.000 T 0.127 0.252 5.36 5.61 1.388 5.381 15.791 0.251716 NA 1 0.802977 0.86768 ID=COSM149667;OCCURENCE=1(stomach) 0.79 NA 8.9916564 753 5 37173930 37173930 A C exonic C5orf42 NA nonsynonymous SNV C5orf42:NM_023073:exon32:c.T6098G:p.F2033C exonic ENSG00000197603 NA nonsynonymous SNV ENSG00000197603:ENST00000509849:exon17:c.T3110G:p.F1037C,ENSG00000197603:ENST00000514429:exon17:c.T3242G:p.F1081C,ENSG00000197603:ENST00000508244:exon31:c.T6098G:p.F2033C,ENSG00000197603:ENST00000274258:exon32:c.T2738G:p.F913C,ENSG00000197603:ENST00000425232:exon32:c.T6098G:p.F2033C NA NA 5p13.2 NA NA NA NA rs10076911 0.15 0.15 0.148 0.172724 0.0954 0.0903 0.1614 0.3457 0.1115 0.09 0.05 0.19 0.33 0.1351 0.33 0.26 T 0.0 B 0.0 B 0.148 N 1.000 P -0.69 N 1.97 T -0.912 T 0.000 T 0.074 0.492 6.667 3.76 0.198 1.126 3.687 0.491699 NA 0.24 0.111279 0.301634 ID=COSM1437344,COSM1437345;OCCURENCE=1(large_intestine) 0.109 NA 8.9915544 753 19 9083791 9083791 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.C8024T:p.S2675L exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C8024T:p.S2675L NA NA 19p13.2 NA NA NA NA rs60106152 0.15 0.15 0.137 0.146166 0.1252 0.1746 0.0965 0.1573 0.1585 0.12 0.16 0.11 0.19 0.1222 0.19 0 D 0.0 B 0.0 B . . . . 0 N 4.21 T -0.886 T 0.000 T 0.04 -1.645 0.013 -0.47 -2.009 -1.868 . -1.64473 NA 0.16 0.098651 0.127328 NA 0.094 NA 8.9872824 754 1 152081921 152081921 G C exonic TCHH NA nonsynonymous SNV TCHH:NM_007113:exon3:c.C3772G:p.L1258V exonic ENSG00000159450 NA nonsynonymous SNV ENSG00000159450:ENST00000368804:exon2:c.C3772G:p.L1258V NA NA 1q21.3 NA Name=ZNF263,HA-E2F1 Name=22 NA rs2496253 0.5 0.5 0.508 0.56849 0.4016 0.5992 0.647 0.4781 0.7751 0.42 0.58 0.58 0.48 0.5071 0.58 0.3 T 0.0 B 0.0 B . . 1.000 P -0.695 N 3.71 T -0.896 T 0.002 T 0.118 0.713 7.8 3.14 0.218 -0.233 12.104 0.713488 NA NA 0.439746 0.440394 NA 0.507 NA 8.9848874 754 9 130242166 130242166 A G exonic LRSAM1 NA nonsynonymous SNV LRSAM1:NM_001005374:exon13:c.A952G:p.N318D,LRSAM1:NM_138361:exon13:c.A952G:p.N318D,LRSAM1:NM_001005373:exon14:c.A952G:p.N318D,LRSAM1:NM_001190723:exon14:c.A952G:p.N318D exonic ENSG00000148356 NA nonsynonymous SNV ENSG00000148356:ENST00000323301:exon13:c.A952G:p.N318D,ENSG00000148356:ENST00000373322:exon13:c.A952G:p.N318D,ENSG00000148356:ENST00000300417:exon14:c.A952G:p.N318D,ENSG00000148356:ENST00000373324:exon14:c.A952G:p.N318D Score=358;Name=lod=38 NA 9q33.3 NA NA NA NA rs1539567 0.74 0.74 0.697 0.727236 0.7982 0.6925 0.8098 0.6256 0.7689 0.81 0.7 0.77 0.64 0.7776 0.81 0.73 T 0.0 B 0.0 B 0.000 N 1.000 P -1.5 N 1.06 T -0.957 T 0.000 T 0.063 -0.387 2.182 5.86 1.502 4.649 8.71 -0.387357 NA 0.6 0.772685 0.681571 NA 0.703 NA 8.9848484 754 11 17809724 17809724 T C exonic SERGEF NA nonsynonymous SNV SERGEF:NM_012139:exon11:c.A1285G:p.K429E exonic ENSG00000129158 NA nonsynonymous SNV ENSG00000129158:ENST00000265965:exon11:c.A1285G:p.K429E Score=289;Name=lod=20 NA 11p15.1 NA NA NA NA rs1528 0.1 0.1 0.092 0.127396 0.1243 0.002 0.0663 0.2156 0.184 0.13 0.0017 0.07 0.18 0.1145 0.18 1 T 0.0 B 0.0 B 0.053 N 0.000 P -0.695 N 1.2 T -1.001 T 0.000 T 0.221 0.97 8.959 3.12 0.678 0.547 8.054 0.970059 NA 1 0.109713 0.174773 NA 0.109 NA 8.9848204 754 19 54722250 54722250 T C exonic LILRB3 NA nonsynonymous SNV LILRB3:NM_001081450:exon11:c.A1573G:p.R525G,LILRB3:NM_006864:exon11:c.A1573G:p.R525G exonic ENSG00000204577,ENSG00000244482 NA nonsynonymous SNV ENSG00000204577:ENST00000245620:exon11:c.A1573G:p.R525G,ENSG00000244482:ENST00000270464:exon11:c.A1573G:p.R525G,ENSG00000244482:ENST00000419410:exon11:c.A1573G:p.R525G,ENSG00000204577:ENST00000424807:exon11:c.A1573G:p.R525G,ENSG00000244482:ENST00000440558:exon11:c.A1573G:p.R525G,ENSG00000204577:ENST00000346401:exon12:c.A1609G:p.R537G,ENSG00000204577:ENST00000391750:exon12:c.A1573G:p.R525G,ENSG00000204577:ENST00000407860:exon12:c.A1624G:p.R542G NA NA 19q13.42 Score=751;Name=V$PAX4_04 NA NA NA rs1132610 0.13 0.13 0.134 0.147764 0.1103 0.002 0.1354 0.3525 0.0685 0.1 0.0035 0.12 0.36 0.1175 0.36 1 T 0.001 B 0.007 B . . 1.000 P -1.82 N 7.49 T -1.014 T 0.000 T 0.135 -2.044 0.006 -0.331 -0.189 -2.023 4.272 -2.043597 NA 1 0.120814 0.31389 NA 0.087 NA 8.9847194 754 12 132250712 132250712 G C exonic SFSWAP NA synonymous SNV SFSWAP:NM_001261411:exon13:c.G2001C:p.L667L,SFSWAP:NM_004592:exon13:c.G2001C:p.L667L exonic ENSG00000061936 NA synonymous SNV ENSG00000061936:ENST00000535236:exon11:c.G1380C:p.L460L,ENSG00000061936:ENST00000261674:exon13:c.G2001C:p.L667L,ENSG00000061936:ENST00000541286:exon13:c.G2001C:p.L667L Score=502;Name=lod=146 NA 12q24.33 NA NA NA NA rs1051233 0.13 0.13 0.09 0.101438 0.2366 NA 0.2291 0.0091 0.1012 0.23 NA 0.27 0.02 0.1899 0.27 . . . . . . . . 0.000 P . . . . -0.997 T 0.000 T . 1.147 9.674 -9.28 -1.785 -0.165 1.603 1.147491 NA NA 0.255581 0.046754 NA 0.072 NA 8.9845856 754 2 203846817 203846817 A T exonic ALS2CR8 NA nonsynonymous SNV ALS2CR8:NM_001104586:exon15:c.A1712T:p.Y571F,ALS2CR8:NM_024744:exon16:c.A1712T:p.Y571F exonic ENSG00000138380 NA nonsynonymous SNV ENSG00000138380:ENST00000414439:exon13:c.A1406T:p.Y469F,ENSG00000138380:ENST00000545253:exon13:c.A1448T:p.Y483F,ENSG00000138380:ENST00000428585:exon14:c.A1484T:p.Y495F,ENSG00000138380:ENST00000320443:exon15:c.A1712T:p.Y571F,ENSG00000138380:ENST00000402905:exon15:c.A1712T:p.Y571F,ENSG00000138380:ENST00000545262:exon15:c.A1484T:p.Y495F,ENSG00000138380:ENST00000438828:exon16:c.A1712T:p.Y571F Score=446;Name=lod=87 NA 2q33.2 NA NA NA NA rs72932557 0.07 0.07 0.067 0.0471246 0.1302 0.0159 0.0749 0.0174 0.0143 0.14 0.02 0.09 0.02 0.091 0.14 1 T 0.0 B 0.0 B 0.002 N 0.671 P -1.79 N . . -1.017 T 0.000 T 0.117 -0.195 3.052 4.26 0.341 0.917 8.964 -0.195095 NA 1 0.128502 0.035249 NA 0.036 NA 8.9836314 754 7 143657473 143657473 A G exonic OR2F1 NA nonsynonymous SNV OR2F1:NM_012369:exon1:c.A410G:p.H137R exonic ENSG00000213215 NA nonsynonymous SNV ENSG00000213215:ENST00000392899:exon1:c.A410G:p.H137R NA NA 7q35 NA NA NA NA rs2072165 0.22 0.22 0.178 0.226038 0.1093 0.1627 0.2378 0.4463 0.1053 0.11 0.18 0.24 0.41 0.1515 0.41 0.05 D 0.001 B 0.002 B 0.009 N 0.999 P 0.58 N 1.31 T -0.940 T 0.000 T 0.118 -0.215 2.96 3.17 0.524 0.163 7.008 -0.214763 NA 0.09 0.090233 0.388334 NA 0.174 NA 8.9823004 754 19 22868837 22868837 A G intergenic ZNF492,ZNF99 dist=18365;dist=66148 NA NA ncRNA_exonic ENSG00000198153 NA NA NA Score=420;Name=lod=68 NA 19p12 NA Name=ZNF274 NA NA rs10423345 0.06 0.06 0.065 0.0688898 0.001 NA 0.0144 0.2511 0.002 0.0013 NA 0.01 0.26 0.0176 0.26 0 D . . . . . . . . . . . . -1.048 T 0.000 T . 2.148 13.14 0.8 0.237 3.370 5.548 2.147761 2.147761 NA NA NA NA 0.036 NA 8.9814 754 4 3189547 3189547 C A exonic HTT NA nonsynonymous SNV HTT:NM_002111:exon39:c.C5159A:p.T1720N exonic ENSG00000197386 NA nonsynonymous SNV ENSG00000197386:ENST00000355072:exon39:c.C5159A:p.T1720N NA NA 4p16.3 NA NA NA NA rs363125 0.17 0.17 0.179 0.189097 0.1083 0.0089 0.1225 0.4834 0.1074 0.11 0.0035 0.12 0.48 0.1268 0.48 0.5 T 0.0 B 0.0 B 0.971 N 1.000 P 0.69 N 3.57 T -0.905 T 0.000 T 0.022 -0.48 1.789 -11.3 -2.325 -1.105 8.434 -0.479891 NA 0.49 0.116959 0.401733 NA 0.167 NA 8.9812744 754 6 7577260 7577260 C T exonic DSP NA synonymous SNV DSP:NM_001008844:exon20:c.C2862T:p.C954C,DSP:NM_004415:exon20:c.C2862T:p.C954C exonic ENSG00000096696 NA synonymous SNV ENSG00000096696:ENST00000379802:exon20:c.C2862T:p.C954C,ENSG00000096696:ENST00000418664:exon20:c.C2862T:p.C954C Score=399;Name=lod=56 NA 6p24.3 Score=853;Name=V$COUP_01 NA Name=2 NA rs2064217 0.26 0.26 0.258 0.27516 0.2266 0.1915 0.2363 0.4039 0.2648 0.23 0.19 0.24 0.4 0.2438 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.854402 NA NA 0.215864 0.37222 ID=COSM150041;OCCURENCE=1(stomach) 0.319 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038021.1;CLNDSDB=.;CLNDSDBID=. 8.9804026 754 8 27679981 27679981 T C exonic PBK NA nonsynonymous SNV PBK:NM_018492:exon5:c.A320G:p.N107S exonic ENSG00000168078 NA nonsynonymous SNV ENSG00000168078:ENST00000301905:exon5:c.A320G:p.N107S,ENSG00000168078:ENST00000522944:exon5:c.A320G:p.N107S Score=516;Name=lod=167 NA 8p21.1 NA NA NA NA rs3779620 0.2 0.2 0.191 0.222843 0.1064 0.3611 0.1066 0.2837 0.2004 0.09 0.36 0.12 0.26 0.1467 0.36 0.61 T 0.0 B 0.001 B 0.004 N 1.000 P 0.265 N 1.43 T -0.907 T 0.000 T 0.003 -0.094 3.539 2.21 0.378 0.748 6.642 -0.094007 NA 1 0.101512 0.248525 ID=COSM150479;OCCURENCE=1(stomach) 0.246 NA 8.9787214 754 14 24533539 24533539 C A exonic LRRC16B NA nonsynonymous SNV LRRC16B:NM_138360:exon32:c.C3064A:p.L1022M exonic ENSG00000186648 NA nonsynonymous SNV ENSG00000186648:ENST00000334420:exon32:c.C352A:p.L118M,ENSG00000186648:ENST00000342740:exon32:c.C3064A:p.L1022M Score=568;Name=lod=271 NA 14q11.2 NA NA NA NA rs10146906 0.36 0.36 0.353 0.348642 0.4632 0.0437 0.4553 0.4955 0.271 0.48 0.04 0.44 0.48 0.4383 0.49 0.64 T 0.0 B 0.001 B 0.000 N 1.000 P -0.06 N 0.94 T -0.925 T 0.000 T 0.108 1.658 11.5 5.28 0.852 2.101 9.854 1.658049 1.658049 0.29 0.453372 0.486609 NA 0.406 NA 8.9784614 754 1 209950760 209950760 C G exonic TRAF3IP3 NA nonsynonymous SNV TRAF3IP3:NM_025228:exon12:c.C1117G:p.Q373E exonic ENSG00000009790 NA nonsynonymous SNV ENSG00000009790:ENST00000367023:exon5:c.C325G:p.Q109E,ENSG00000009790:ENST00000477431:exon5:c.C325G:p.Q109E,ENSG00000009790:ENST00000010338:exon10:c.C1057G:p.Q353E,ENSG00000009790:ENST00000367024:exon12:c.C1117G:p.Q373E,ENSG00000009790:ENST00000367025:exon12:c.C1117G:p.Q373E,ENSG00000009790:ENST00000367026:exon12:c.C1057G:p.Q353E,ENSG00000009790:ENST00000400959:exon12:c.C1057G:p.Q353E Score=440;Name=lod=82 NA 1q32.2 NA NA NA NA rs669694 0.81 0.81 0.81 0.8123 0.7674 0.8135 0.7781 0.8828 0.7863 0.77 0.82 0.8 0.88 0.7901 0.88 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.24 N -1.0 T -0.947 T 0.000 T 0.029 0.615 7.311 5.56 1.364 3.830 15.398 0.614941 NA 1 0.798837 0.857467 ID=COSM1127153;OCCURENCE=1(prostate),1(large_intestine) 0.855 NA 8.9769964 754 2 233899126 233899126 C A exonic NEU2 NA nonsynonymous SNV NEU2:NM_005383:exon2:c.C502A:p.H168N exonic ENSG00000115488 NA nonsynonymous SNV ENSG00000115488:ENST00000233840:exon2:c.C502A:p.H168N NA NA 2q37.1 Score=752;Name=V$MYOGNF1_01 NA NA NA rs2233391 0.28 0.28 0.253 0.232029 0.502 0.0298 0.3026 0.1626 0.2065 0.51 0.02 0.35 0.16 0.3765 0.51 0.14 T 0.037 B 0.102 B 0.150 N 1.000 P 1.935 M -2.24 D -1.012 T 0.000 T 0.018 0.098 4.53 0.688 0.097 0.044 4.060 0.098352 NA 0.93 0.477907 0.213572 NA 0.239 NA 8.9769264 755 22 50716167 50716167 G A exonic PLXNB2 NA synonymous SNV PLXNB2:NM_012401:exon33:c.C5049T:p.S1683S exonic ENSG00000196576 NA synonymous SNV ENSG00000196576:ENST00000359337:exon33:c.C5049T:p.S1683S,ENSG00000196576:ENST00000449103:exon33:c.C5049T:p.S1683S Score=355;Name=lod=37 NA 22q13.33 NA NA NA NA rs1127000 0.51 0.51 0.459 0.497404 0.5726 0.6062 0.4755 0.2678 0.6339 0.58 0.61 0.46 0.31 0.556 0.61 0 D . . . . . . 0.000 P . . . . -0.964 T 0.000 T . -0.726 0.889 -4.29 -1.211 0.078 14.262 -0.726124 NA NA 0.564467 0.29804 NA 0.377 NA 8.9735996 755 17 72350402 72350402 G A exonic KIF19 NA nonsynonymous SNV KIF19:NM_153209:exon18:c.G2410A:p.A804T exonic ENSG00000196169 NA nonsynonymous SNV ENSG00000196169:ENST00000389916:exon18:c.G2410A:p.A804T NA NA 17q25.1 NA Name=Pol2-4H8,ZNF263,CTCF_(SC-5916),NANOG_(SC-33759),JunD,TCF12,PAX5-C20,CTCF_(C-20),CCNT2,TAF7_(SQ-8),YY1_(C-20),ATF3,SMC3_(ab9263),GABP,Znf143_(16618-1-AP),CTCFL_(SC-98982),CTCF,Rad21 Name=48 NA rs2271534 0.1 0.1 0.092 0.102835 0.1223 0.0605 0.1427 0.0643 0.1503 0.14 0.05 0.15 0.08 0.1144 0.15 0.64 T 0.001 B 0.001 B . . 1.000 P 1.155 L -0.43 T -1.097 T 0.001 T 0.024 0.023 4.133 -0.024 0.472 -0.089 0.291 0.022977 NA 0 0.123055 0.083374 ID=COSM437308;OCCURENCE=2(breast) 0.058 NA 8.9735784 755 15 33954652 33954652 C T exonic RYR3 NA nonsynonymous SNV RYR3:NM_001036:exon35:c.C4921T:p.R1641C,RYR3:NM_001243996:exon35:c.C4921T:p.R1641C exonic ENSG00000198838 NA nonsynonymous SNV ENSG00000198838:ENST00000389232:exon35:c.C4921T:p.R1641C,ENSG00000198838:ENST00000415757:exon35:c.C4921T:p.R1641C Score=472;Name=lod=110 NA 15q14 Score=887;Name=V$CREL_01 NA NA NA rs4780144 0.86 0.86 0.85 0.838259 0.9622 0.9246 0.9207 0.556 0.9448 0.97 0.92 0.9 0.57 0.9339 0.97 0.05 D 0.99 D 0.582 P 0.229 N 0.004 P 1.39 L -0.74 T -1.004 T 0.000 T 0.058 1.375 10.53 0.853 0.360 -0.113 5.527 1.374749 1.374749 0.06 0.964054 0.665822 NA 0.848 NA 8.9731794 755 8 7218752 7218752 G C exonic ZNF705G NA nonsynonymous SNV ZNF705G:NM_001164457:exon2:c.C19G:p.L7V exonic ENSG00000215372 NA nonsynonymous SNV ENSG00000215372:ENST00000400078:exon2:c.C19G:p.L7V,ENSG00000215372:ENST00000400156:exon4:c.C19G:p.L7V Score=429;Name=lod=74 NA 8p23.1 NA NA Name=17 NA rs3989697 0.27 0.27 0.226 NA NA NA NA NA NA 0.24 0.21 0.32 0.36 0.3609 0.36 1 T . . . . . . 1.000 P -1.56 N 5.86 T -0.978 T 0.000 T 0.026 -3.595 0.001 1.24 0.119 0.023 2.834 -3.595236 NA 1 NA NA NA 0.043 NA 8.9724334 755 4 55139771 55139771 T C exonic PDGFRA NA nonsynonymous SNV PDGFRA:NM_006206:exon10:c.T1432C:p.S478P exonic ENSG00000134853 NA nonsynonymous SNV ENSG00000134853:ENST00000257290:exon10:c.T1432C:p.S478P,ENSG00000134853:ENST00000509490:exon10:c.T1432C:p.S478P NA NA 4q12 NA NA NA NA rs35597368 0.17 0.17 0.152 0.199281 0.1074 0.1706 0.2406 0.2443 0.2331 0.12 0.17 0.2 0.21 0.1516 0.24 0.85 T 0.0 B 0.0 B 0.234 N 1.000 P 0 N -0.95 T -1.098 T 0.000 T 0.092 -0.613 1.271 0.811 0.048 -1.239 6.025 -0.613017 NA 0.29 0.102558 0.225828 NA 0.232 CLINSIG=non-pathogenic|untested;CLNDBN=not_provided|not_specified;CLNREVSTAT=single|not;CLNACC=RCV000034716.1|RCV000121780.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.9717754 755 16 88780175 88780175 G A exonic CTU2 NA nonsynonymous SNV CTU2:NM_001012759:exon9:c.G994A:p.V332I,CTU2:NM_001012762:exon9:c.G994A:p.V332I exonic ENSG00000174177 NA nonsynonymous SNV ENSG00000174177:ENST00000378384:exon8:c.G733A:p.V245I,ENSG00000174177:ENST00000312060:exon9:c.G994A:p.V332I,ENSG00000174177:ENST00000453996:exon9:c.G994A:p.V332I,ENSG00000174177:ENST00000567949:exon9:c.G1207A:p.V403I NA NA 16q24.3 NA NA NA NA rs4782321 0.07 0.07 0.071 0.0393371 0.1282 NA 0.0375 0.0234 0.0112 0.15 NA 0.04 0.03 0.0972 0.15 0.63 T 0.029 B 0.006 B 0.075 N 1.000 P -0.475 N 0.95 T -1.042 T 0.000 T 0.049 -0.326 2.451 -5.78 -1.464 -0.746 3.893 -0.326271 NA 0.44 0.136226 0.035308 NA 0.036 NA 8.9717074 755 11 99690461 99690461 A G exonic CNTN5 NA nonsynonymous SNV CNTN5:NM_001243270:exon3:c.A242G:p.N81S,CNTN5:NM_001243271:exon4:c.A242G:p.N81S,CNTN5:NM_014361:exon4:c.A242G:p.N81S exonic ENSG00000149972 NA nonsynonymous SNV ENSG00000149972:ENST00000279463:exon2:c.A242G:p.N81S,ENSG00000149972:ENST00000528682:exon3:c.A242G:p.N81S,ENSG00000149972:ENST00000524871:exon4:c.A242G:p.N81S,ENSG00000149972:ENST00000527185:exon4:c.A242G:p.N81S Score=510;Name=lod=157 NA 11q22.1 NA NA NA NA rs10893933 NA NA 0.149 NA NA NA NA NA NA NA NA NA NA 0.3617 0.12 0.78 T 0.036 B 0.012 B 0.534 N 0.000 P 0.55 N 0.67 T -0.970 T 0.080 T 0.347 0.35 5.9 1.42 0.128 2.566 8.939 0.350168 NA 0.33 NA NA NA 0.116 NA 8.9716334 755 17 61901197 61901197 T A exonic FTSJ3 NA nonsynonymous SNV FTSJ3:NM_017647:exon13:c.A1270T:p.S424C exonic ENSG00000108592 NA nonsynonymous SNV ENSG00000108592:ENST00000579831:exon1:c.A55T:p.S19C,ENSG00000108592:ENST00000427159:exon13:c.A1270T:p.S424C Score=503;Name=lod=147 NA 17q23.3 NA NA NA NA rs2727288 0.68 0.68 0.693 0.726438 0.5984 0.5556 0.6787 0.9569 0.7566 0.6 0.58 0.63 0.96 0.658 0.96 0.01 D 0.681 P 0.215 B 0.002 N 1.000 P 0.345 N 1.42 T -1.032 T 0.000 T 0.141 0.477 6.589 4.68 0.948 0.028 8.945 0.477083 NA 0.01 0.606512 0.894235 NA 0.674 NA 8.9704214 755 4 90170118 90170118 A G exonic GPRIN3 NA nonsynonymous SNV GPRIN3:NM_198281:exon2:c.T1144C:p.S382P exonic ENSG00000185477 NA nonsynonymous SNV ENSG00000185477:ENST00000333209:exon2:c.T1144C:p.S382P NA NA 4q22.1 NA NA NA NA rs28622301 0.1 0.1 0.086 0.108027 0.1302 0.123 0.0893 0.0068 0.2198 0.13 0.14 0.11 0.01 0.1216 0.14 0.22 T 0.002 B 0.004 B 0.242 N 1.000 P 0.46 N 2.67 T -1.022 T 0.000 T 0.022 1.932 12.42 -8.98 -1.809 -0.622 11.105 1.931922 1.931922 0.2 0.112093 0.021335 ID=COSM1131000;OCCURENCE=1(prostate) 0.051 NA 8.9694404 755 14 33291494 33291494 C T exonic AKAP6 NA nonsynonymous SNV AKAP6:NM_004274:exon13:c.C4475T:p.A1492V exonic ENSG00000151320 NA nonsynonymous SNV ENSG00000151320:ENST00000280979:exon13:c.C4475T:p.A1492V NA NA 14q12 NA NA Name=32 NA rs11845640 0.24 0.24 0.272 0.265375 0.1083 0.2679 0.147 0.4796 0.2188 0.1 0.31 0.11 0.49 0.153 0.49 0.3 T 0.018 B 0.005 B 0.818 N 1.000 P 1.01 L 3.47 T -0.942 T 0.000 T 0.035 0.122 4.655 2.91 0.771 0.465 8.244 0.121839 NA 0.28 0.102674 0.413527 NA 0.261 NA 8.9693594 755 7 810219 810219 T C exonic HEATR2 NA nonsynonymous SNV HEATR2:NM_017802:exon9:c.T1895C:p.V632A exonic ENSG00000164818 NA nonsynonymous SNV ENSG00000164818:ENST00000403952:exon2:c.T170C:p.V57A,ENSG00000164818:ENST00000297440:exon9:c.T1895C:p.V632A,ENSG00000164818:ENST00000313147:exon9:c.T1895C:p.V632A Score=313;Name=lod=25 NA 7p22.3 NA NA NA NA rs4720951 0.42 0.42 0.39 0.391374 0.4632 0.3532 0.4395 0.3578 0.3681 0.45 0.35 0.43 0.44 0.4304 0.47 0.09 T 0.014 B 0.004 B 0.432 N 0.969 P 1.355 L -0.25 T -0.970 T 0.000 T 0.401 1.016 9.151 3.55 0.662 3.805 9.728 1.016258 NA 0.15 0.470814 0.356105 NA 0.355 NA 8.9689194 755 8 41525914 41525914 C T exonic ANK1 NA synonymous SNV ANK1:NM_000037:exon39:c.G5265A:p.V1755V,ANK1:NM_020475:exon39:c.G5265A:p.V1755V,ANK1:NM_020476:exon39:c.G5265A:p.V1755V,ANK1:NM_020477:exon39:c.G4779A:p.V1593V,ANK1:NM_001142446:exon40:c.G5388A:p.V1796V exonic ENSG00000029534 NA synonymous SNV ENSG00000029534:ENST00000289734:exon39:c.G5265A:p.V1755V,ENSG00000029534:ENST00000347528:exon39:c.G5265A:p.V1755V,ENSG00000029534:ENST00000352337:exon39:c.G5265A:p.V1755V,ENSG00000029534:ENST00000379758:exon39:c.G5265A:p.V1755V,ENSG00000029534:ENST00000396942:exon39:c.G5265A:p.V1755V,ENSG00000029534:ENST00000396945:exon39:c.G5265A:p.V1755V,ENSG00000029534:ENST00000265709:exon40:c.G5388A:p.V1796V NA NA 8p11.21 NA NA Name=2 NA rs750625 0.2 0.2 0.19 0.194688 0.2406 0.1409 0.2147 0.1936 0.1902 0.21 0.14 0.26 0.21 0.2134 0.26 0.14 T . . . . 0.813 N 1.000 P . . -0.25 T -1.089 T 0.000 T . -1.312 0.035 2.34 0.532 1.235 7.281 -1.311843 NA NA 0.245 0.204267 NA 0.261 NA 8.9676666 756 6 30041009 30041009 A G exonic RNF39 NA nonsynonymous SNV RNF39:NM_025236:exon3:c.T607C:p.S203P,RNF39:NM_170769:exon3:c.T607C:p.S203P exonic ENSG00000204618 NA nonsynonymous SNV ENSG00000204618:ENST00000244360:exon3:c.T607C:p.S203P,ENSG00000204618:ENST00000376751:exon3:c.T607C:p.S203P NA NA 6p22.1 NA NA NA NA rs2074479 0.18 0.18 0.197 0.191294 0.0954 0.1905 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 0.1539 0.3 0.59 T 0.0 B 0.0 B 0.370 N 1.000 P -0.695 N 0.04 T -1.079 T 0.046 T 0.069 -1.893 0.008 3.99 1.050 0.836 7.844 -1.89338 NA 1 0.11997 0.25546 NA 0.167 NA 8.9640634 756 2 71058835 71058835 A G exonic CD207 NA nonsynonymous SNV CD207:NM_015717:exon5:c.T833C:p.V278A exonic ENSG00000116031 NA nonsynonymous SNV ENSG00000116031:ENST00000410009:exon5:c.T833C:p.V278A NA NA 2p13.3 NA NA NA NA rs741326 0.54 0.54 0.542 0.545327 0.4722 0.6548 0.4813 0.5219 0.5849 0.48 0.69 0.44 0.53 0.4755 0.69 0.5 T 0.0 B 0.0 B 0.152 N 1.000 P -1.27 N 2.33 T -0.960 T 0.000 T 0.082 -1.206 0.069 -9.57 -2.881 -1.932 1.358 -1.205573 NA 0.75 0.423646 0.465037 NA 0.449 NA 8.9619874 756 5 134076812 134076812 G A exonic CAMLG NA nonsynonymous SNV CAMLG:NM_001745:exon2:c.G232A:p.V78I exonic ENSG00000164615 NA nonsynonymous SNV ENSG00000164615:ENST00000297156:exon2:c.G232A:p.V78I NA NA 5q31.1 NA NA NA NA rs12657663 0.15 0.15 0.13 0.146565 0.1332 0.2808 0.1787 0.0136 0.1789 0.13 0.29 0.14 0.02 0.136 0.29 0.96 T 0.0 B 0.001 B 0.561 N 1.000 P 0.205 N 1.51 T -1.066 T 0.000 T 0.004 0.199 5.074 -11.7 -3.248 -1.489 3.592 0.199353 NA 0.91 0.102907 0.02542 NA 0.058 NA 8.9612264 756 19 50453317 50453317 C T exonic SIGLEC11 NA synonymous SNV SIGLEC11:NM_001135163:exon10:c.G1719A:p.S573S,SIGLEC11:NM_052884:exon11:c.G2007A:p.S669S exonic ENSG00000161640 NA synonymous SNV ENSG00000161640:ENST00000426971:exon10:c.G1719A:p.S573S,ENSG00000161640:ENST00000447370:exon11:c.G2007A:p.S669S NA NA 19q13.33 NA NA NA NA rs9304690 0.22 0.22 0.211 0.205072 0.2396 0.2619 0.1643 0.0779 0.3119 0.26 0.27 0.21 0.1 0.2268 0.27 . . . . . . . . 0.042 P . . . . -0.967 T 0.000 T . -0.09 3.56 -7.29 -1.620 -3.084 1.013 -0.089762 NA NA 0.239302 0.103315 ID=COSM1395376;OCCURENCE=1(large_intestine) 0.225 NA 8.9609646 756 2 160711045 160711045 G C exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon18:c.C2421G:p.D807E,LY75-CD302:NM_001198760:exon18:c.C2421G:p.D807E,LY75:NM_002349:exon18:c.C2421G:p.D807E exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon18:c.C2421G:p.D807E,ENSG00000248672:ENST00000504764:exon18:c.C2421G:p.D807E,ENSG00000248672:ENST00000505052:exon18:c.C2421G:p.D807E,ENSG00000054219:ENST00000553424:exon18:c.C2421G:p.D807E,ENSG00000054219:ENST00000554112:exon18:c.C2421G:p.D807E Score=551;Name=lod=232 NA 2q24.2 NA NA NA NA rs3951216 0.52 0.52 0.496 0.565895 0.4304 0.7093 0.5778 0.3896 0.7873 0.43 0.72 0.56 0.39 0.5067 0.72 1 T 0.002 B 0.004 B 0.078 N 0.999 P -0.84 N 3.05 T -0.991 T 0.000 T 0.054 -0.439 1.959 3.67 0.715 1.124 7.517 -0.439447 NA 0.93 0.437791 0.389923 NA 0.486 NA 8.9584424 756 19 57036653 57036653 G A exonic ZNF471 NA nonsynonymous SNV ZNF471:NM_020813:exon5:c.G1217A:p.G406D exonic ENSG00000196263 NA nonsynonymous SNV ENSG00000196263:ENST00000308031:exon5:c.G1217A:p.G406D NA NA 19q13.43 NA Name=ZNF274,SETDB1 NA NA rs3752176 0.4 0.4 0.413 0.38139 0.4891 0.2292 0.3213 0.4289 0.4059 0.48 0.24 0.39 0.46 0.4146 0.48 0.18 T 0.002 B 0.001 B . . 1.000 P -0.47 N 3.21 T -0.947 T 0.000 T 0.031 0.373 6.025 3.35 0.388 -1.550 3.229 0.372926 NA 0.53 0.471512 0.45892 NA 0.449 NA 8.9581214 756 9 90501514 90501514 C G exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C2112G:p.D704E exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.C2112G:p.D704E NA NA 9q22.1 NA NA NA NA rs4076794 0.29 0.29 0.299 0.297923 0.1103 0.253 0.2882 0.6142 0.1166 0.12 0.25 0.26 0.62 0.1707 0.62 1 T 0.005 B 0.002 B 0.000 N 1.000 P 0.695 N 3.33 T -0.925 T 0.000 T 0.025 -1.758 0.01 -3.84 -1.590 0.004 1.959 -1.758496 NA 1 0.094441 0.53291 NA 0.225 NA 8.9578924 756 8 7215694 7215694 A G exonic ZNF705G NA nonsynonymous SNV ZNF705G:NM_001164457:exon5:c.T707C:p.V236A exonic ENSG00000215372 NA nonsynonymous SNV ENSG00000215372:ENST00000400078:exon5:c.T707C:p.V236A,ENSG00000215372:ENST00000400156:exon7:c.T707C:p.V236A Score=355;Name=lod=37 NA 8p23.1 NA NA Name=2 NA rs9693671 NA NA 0.341 NA NA NA NA NA NA NA NA NA NA 0.3771 0.12 1 T . . . . . . 1.000 P -0.16 N 2.35 T -0.934 T 0.014 T 0.037 -2.447 0.003 0.049 -0.499 0.108 4.184 -2.447359 NA 1 NA NA NA 0.109 NA 8.9562334 756 10 30728101 30728101 T C exonic MAP3K8 NA synonymous SNV MAP3K8:NM_001244134:exon2:c.T234C:p.Y78Y,MAP3K8:NM_005204:exon3:c.T234C:p.Y78Y exonic ENSG00000107968 NA synonymous SNV ENSG00000107968:ENST00000375321:exon1:c.T234C:p.Y78Y,ENSG00000107968:ENST00000413724:exon2:c.T234C:p.Y78Y,ENSG00000107968:ENST00000415139:exon2:c.T234C:p.Y78Y,ENSG00000107968:ENST00000542547:exon2:c.T234C:p.Y78Y,ENSG00000107968:ENST00000263056:exon3:c.T234C:p.Y78Y,ENSG00000107968:ENST00000375322:exon3:c.T234C:p.Y78Y Score=389;Name=lod=51 Name=Inflammatory bowel disease 10p11.23 Score=935;Name=V$LMO2COM_02 Name=Pol2-4H8 Name=4 NA rs1042058 0.43 0.43 0.398 0.352835 0.6044 0.3492 0.5187 0.0976 0.3252 0.61 0.39 0.51 0.13 0.5028 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127712 NA NA 0.603256 0.157512 NA 0.384 NA 8.9562106 756 1 206603535 206603535 G A exonic SRGAP2 NA unknown UNKNOWN exonic ENSG00000163486 NA synonymous SNV ENSG00000163486:ENST00000439126:exon5:c.G360A:p.L120L,ENSG00000163486:ENST00000414007:exon10:c.G1098A:p.L366L Score=629;Name=lod=481 NA 1q32.1 NA Name=CTCF,STAT3 Name=108 NA rs2297539 0.52 0.52 0.479 0.52496 0.4334 0.7024 0.5634 0.4175 0.5542 0.42 0.71 0.56 0.41 0.4929 0.71 . . . . . . . . 0.711 P . . . . -0.990 T 0.000 T . 1.205 9.896 1.62 0.796 1.440 4.596 1.205469 NA NA 0.451804 0.404524 ID=COSM1338270;OCCURENCE=1(large_intestine) 0.377 NA 8.9552293 757 10 17147521 17147521 G T exonic CUBN NA nonsynonymous SNV CUBN:NM_001081:exon11:c.C1165A:p.P389T exonic ENSG00000107611 NA nonsynonymous SNV ENSG00000107611:ENST00000377833:exon11:c.C1165A:p.P389T Score=412;Name=lod=63 NA 10p13 NA NA NA NA rs1801224 0.56 0.56 0.532 0.534345 0.5875 0.6558 0.6009 0.3676 0.5327 0.57 0.64 0.61 0.42 0.6138 0.68 0.02 D 0.666 P 0.212 B 0.413 N 0.000 P 1.67 L 1.02 T -0.971 T 0.000 T 0.034 2.415 14.04 1.37 0.296 3.034 5.465 2.415303 2.415303 0.17 0.677093 0.412846 NA 0.536 NA 8.9549404 757 19 15905289 15905289 G T exonic OR10H5 NA nonsynonymous SNV OR10H5:NM_001004466:exon1:c.G431T:p.R144L exonic ENSG00000172519 NA nonsynonymous SNV ENSG00000172519:ENST00000308940:exon1:c.G431T:p.R144L NA NA 19p13.12 NA NA NA NA rs61754873 0.1 0.1 0.089 0.0938498 0.1312 0.0635 0.1081 0.0938 0.0767 0.13 0.07 0.13 0.09 0.1136 0.13 1 T 0.0 B 0.0 B 0.001 N 1.000 P -3.435 N 1.55 T -1.008 T 0.000 T 0.073 -1.7 0.011 3.36 0.487 2.214 6.771 -1.70017 NA 1 0.134884 0.093509 NA 0.029 NA 8.9536494 757 17 39580559 39580559 T A exonic KRT37 NA nonsynonymous SNV KRT37:NM_003770:exon1:c.A217T:p.S73C exonic ENSG00000108417 NA nonsynonymous SNV ENSG00000108417:ENST00000225550:exon1:c.A217T:p.S73C Score=295;Name=lod=21 NA 17q21.2 NA NA NA NA rs9916475 0.37 0.37 0.317 0.391374 0.4592 0.4067 0.3415 0.1846 0.6207 0.45 0.4 0.4 0.21 0.4372 0.49 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.305 N -1.49 T -0.927 T 0.000 T 0.061 0.26 5.406 4.69 0.661 1.043 2.665 0.260139 NA 1 0.485698 0.223559 NA 0.348 NA 8.9512354 757 17 27225586 27225586 A T exonic DHRS13 NA nonsynonymous SNV DHRS13:NM_144683:exon5:c.T1007A:p.L336Q exonic ENSG00000167536 NA nonsynonymous SNV ENSG00000167536:ENST00000426464:exon3:c.T764A:p.L255Q,ENSG00000167536:ENST00000394901:exon4:c.T857A:p.L286Q,ENSG00000167536:ENST00000378895:exon5:c.T1007A:p.L336Q NA NA 17q11.2 NA NA NA NA rs4795472 0.13 0.13 0.124 0.11881 0.1282 0.0506 0.1124 0.202 0.0716 0.11 0.07 0.14 0.22 0.1269 0.22 0.31 T 0.012 B 0.005 B 0.089 N 1.000 P 0.205 N -1.11 T -1.047 T 0.000 T 0.049 0.055 4.298 -10.1 -2.676 -1.687 5.237 0.054624 NA 0.1 0.127442 0.187245 NA 0.145 NA 8.9507914 757 7 76069902 76069902 G C exonic ZP3 NA nonsynonymous SNV ZP3:NM_001110354:exon7:c.G1034C:p.R345T,ZP3:NM_007155:exon8:c.G881C:p.R294T exonic ENSG00000188372 NA nonsynonymous SNV ENSG00000188372:ENST00000416245:exon6:c.G506C:p.R169T,ENSG00000188372:ENST00000394857:exon7:c.G1034C:p.R345T,ENSG00000188372:ENST00000336517:exon8:c.G881C:p.R294T NA NA 7q11.23 NA NA NA NA rs1804905 NA NA 0.23 NA NA NA NA NA NA NA NA NA NA 0.3832 NA 0.6 T 0.039 B 0.019 B 0.499 U 1.000 N 0.83 L 2.63 T -0.987 T 0.030 T 0.287 0.888 8.608 -8.56 -1.616 -0.592 12.211 0.888351 NA 0.25 NA NA NA NA NA 8.9501334 757 16 57738810 57738810 T A exonic CCDC135 NA nonsynonymous SNV CCDC135:NM_032269:exon6:c.T722A:p.V241E exonic ENSG00000159625 NA nonsynonymous SNV ENSG00000159625:ENST00000336825:exon5:c.T527A:p.V176E,ENSG00000159625:ENST00000394337:exon6:c.T722A:p.V241E,ENSG00000159625:ENST00000360716:exon7:c.T722A:p.V241E NA NA 16q21 NA NA NA NA rs58373934 0.08 0.08 0.082 0.0666933 0.1402 0.001 0.0692 0.0696 0.0532 0.15 0.0017 0.07 0.08 0.1083 0.15 0.92 T 0.012 B 0.005 B 0.380 N 1.000 P 0.55 N -0.8 T -1.095 T 0.001 T 0.1 0.515 6.791 -2.11 -0.145 -1.069 4.974 0.514952 NA 0.26 0.135349 0.070291 NA 0.08 NA 8.9494844 757 16 71411636 71411636 G A exonic CALB2 NA nonsynonymous SNV CALB2:NM_001740:exon4:c.G328A:p.A110T,CALB2:NM_007088:exon4:c.G328A:p.A110T exonic ENSG00000172137 NA nonsynonymous SNV ENSG00000172137:ENST00000302628:exon4:c.G328A:p.A110T,ENSG00000172137:ENST00000349553:exon4:c.G328A:p.A110T Score=571;Name=lod=279 NA 16q22.2 Score=918;Name=V$ZID_01 NA NA NA rs11545954 0.12 0.12 0.132 0.13778 0.1292 0.0298 0.1052 0.1861 0.2157 0.12 0.04 0.14 0.21 0.1256 0.21 0.31 T 0.005 B 0.006 B 0.083 N 0.945 P 1.285 L -0.33 T -1.088 T 0.000 T 0.233 1.247 10.06 1.17 0.057 0.203 7.991 1.246691 1.246691 0.25 0.129884 0.170837 NA 0.138 NA 8.9486494 757 11 499120 499120 G A exonic RNH1 NA nonsynonymous SNV RNH1:NM_203384:exon5:c.C509T:p.P170L,RNH1:NM_203385:exon5:c.C509T:p.P170L,RNH1:NM_203388:exon5:c.C509T:p.P170L,RNH1:NM_203389:exon5:c.C509T:p.P170L,RNH1:NM_002939:exon6:c.C509T:p.P170L,RNH1:NM_203383:exon6:c.C509T:p.P170L,RNH1:NM_203386:exon6:c.C509T:p.P170L,RNH1:NM_203387:exon6:c.C509T:p.P170L exonic ENSG00000023191 NA nonsynonymous SNV ENSG00000023191:ENST00000534797:exon4:c.C509T:p.P170L,ENSG00000023191:ENST00000356187:exon5:c.C509T:p.P170L,ENSG00000023191:ENST00000397604:exon5:c.C509T:p.P170L,ENSG00000023191:ENST00000397614:exon5:c.C509T:p.P170L,ENSG00000023191:ENST00000438658:exon5:c.C509T:p.P170L,ENSG00000023191:ENST00000527485:exon5:c.C509T:p.P170L,ENSG00000023191:ENST00000529115:exon5:c.C433T:p.R145W,ENSG00000023191:ENST00000529368:exon5:c.C509T:p.P170L,ENSG00000023191:ENST00000354420:exon6:c.C509T:p.P170L,ENSG00000023191:ENST00000397615:exon6:c.C509T:p.P170L,ENSG00000023191:ENST00000529306:exon6:c.C509T:p.P170L,ENSG00000023191:ENST00000533410:exon6:c.C509T:p.P170L NA NA 11p15.5 NA NA NA NA rs17585 0.09 0.09 0.071 0.0872604 0.1352 0.003 0.0879 0.0756 0.1401 0.13 0.01 0.12 0.1 0.1139 0.14 0.08 T 0.015 B 0.002 B 0.101 N 1.000 P 1.905 M 1.03 T -1.057 T 0.001 T 0.337 2.788 15.28 -2.59 -0.238 -0.054 1.319 2.788088 2.788088 0.14 0.136163 0.091466 NA 0.167 NA 8.9480704 757 4 68380215 68380215 G A exonic CENPC1 NA nonsynonymous SNV CENPC1:NM_001812:exon8:c.C1021T:p.L341F exonic ENSG00000145241 NA nonsynonymous SNV ENSG00000145241:ENST00000513216:exon4:c.C742T:p.L248F,ENSG00000145241:ENST00000273853:exon8:c.C1021T:p.L341F,ENSG00000145241:ENST00000506882:exon8:c.C1021T:p.L341F NA NA 4q13.2 NA NA NA NA rs11250 0.69 0.69 0.659 0.700679 0.6252 0.8274 0.7536 0.6195 0.7198 0.61 0.82 0.73 0.62 0.6572 0.82 0.7 T 0.971 D 0.641 P 0.762 N 1.000 P 0.975 L . . -0.952 T 0.000 T 0.069 2.133 13.09 2.53 1.121 0.538 4.593 2.133139 2.133139 0.11 0.603038 0.630757 NA 0.783 NA 8.9478954 757 7 158896517 158896517 G A exonic VIPR2 NA synonymous SNV VIPR2:NM_003382:exon4:c.C288T:p.D96D exonic ENSG00000106018 NA synonymous SNV ENSG00000106018:ENST00000262178:exon4:c.C288T:p.D96D,ENSG00000106018:ENST00000402066:exon4:c.C711T:p.D237D Score=313;Name=lod=25 NA 7q36.3 NA NA NA NA rs2270313 0.26 0.26 0.274 0.240815 0.2485 0.1974 0.1873 0.3185 0.2106 0.25 0.22 0.21 0.34 0.2385 0.34 . . . . . . . . 0.000 P . . . . -1.016 T 0.000 T . -0.981 0.289 -7.55 -1.063 -0.332 9.504 -0.981342 NA NA 0.231977 0.302769 NA 0.326 NA 8.9476896 757 2 169764176 169764176 G C exonic G6PC2 NA nonsynonymous SNV G6PC2:NM_021176:exon5:c.G655C:p.V219L exonic ENSG00000152254 NA nonsynonymous SNV ENSG00000152254:ENST00000375363:exon5:c.G655C:p.V219L Score=632;Name=lod=493 NA 2q31.1 NA NA NA NA rs492594 0.44 0.44 0.401 0.463458 0.4443 0.4335 0.5634 0.3101 0.6503 0.45 0.44 0.56 0.34 0.4865 0.56 1 T 0.0 B 0.0 B 0.120 N 0.000 P -0.775 N -0.83 T -0.937 T 0.000 T 0.057 -0.375 2.235 3.06 0.398 2.141 5.621 -0.375122 NA 1 0.456163 0.32138 ID=COSM148982;OCCURENCE=1(stomach) 0.435 NA 8.9463704 757 17 73780813 73780813 A G upstream MIR4738,UNK NA NA NA exonic ENSG00000132478 NA nonsynonymous SNV ENSG00000132478:ENST00000293218:exon2:c.A80G:p.D27G NA NA 17q25.1 NA Name=p300,CHD2_(N-1250),GTF2F1_(RAP-74),CEBPB,RXRA,ELF1_(SC-631),STAT1,TCF4,SP1,ATF3,Pol2,USF1_(SC-8983),TR4,YY1_(C-20),Znf143_(16618-1-AP),GATA-1,SREBP1,ZBTB33,GABP,USF-1,Nrf1,TCF12,IRF1,TBP,NFKB,c-Myc,SIX5,SRF,STAT3,HA-E2F1,FOSL2,ELK4 Name=148 NA rs147842313 0.01 0.01 0.011 0.00678914 0.0219 NA 0.0144 NA 0.002 0.02 NA 0.01 NA 0.0125 0.02 0.15 T . . . . . . 1.000 N . . . . -0.975 T 0.048 T 0.057 2.089 12.94 -2.71 -0.267 -0.085 7.985 2.088563 2.088563 NA 0.019729 0.003145 NA 0.007 NA 8.945871 757 4 186379735 186379735 T C exonic CCDC110 NA nonsynonymous SNV CCDC110:NM_001145411:exon5:c.A1895G:p.Q632R,CCDC110:NM_152775:exon6:c.A2006G:p.Q669R exonic ENSG00000168491 NA nonsynonymous SNV ENSG00000168491:ENST00000393540:exon5:c.A1895G:p.Q632R,ENSG00000168491:ENST00000307588:exon6:c.A2006G:p.Q669R,ENSG00000168491:ENST00000510617:exon6:c.A2006G:p.Q669R NA NA 4q35.1 NA NA NA NA rs6827370 0.19 0.19 0.173 0.213259 0.1223 0.2698 0.1599 0.2965 0.1738 0.13 0.22 0.12 0.31 0.1563 0.31 0.56 T 0.026 B 0.018 B 0.159 N 1.000 P 1.085 L 1.45 T -0.946 T 0.000 T 0.026 0.522 6.827 3.02 0.438 1.465 8.234 0.521826 NA 0.85 0.109171 0.287369 NA 0.145 NA 8.9455624 757 17 39261933 39261933 C T exonic KRTAP4-9 NA nonsynonymous SNV KRTAP4-9:NM_001146041:exon1:c.C293T:p.A98V exonic ENSG00000212722 NA nonsynonymous SNV ENSG00000212722:ENST00000391415:exon1:c.C293T:p.A98V NA NA 17q21.2 NA NA Name=3 NA rs7207685 NA NA 0.637 0.675519 0.7147 0.4028 0.6787 0.9501 0.5429 NA NA NA NA 0.6732 0.011 1 T 0.0 B 0.0 B 0.000 U 1.000 P -1.08 N 1.49 T -0.991 T 0.022 T 0.126 -1.019 0.233 -2.04 -0.852 -6.039 5.086 -1.019148 NA 0.92 NA NA NA 0.007 NA 8.9454334 757 12 11183217 11183217 C T exonic TAS2R31 NA nonsynonymous SNV TAS2R31:NM_176885:exon1:c.G718A:p.V240I exonic ENSG00000256436 NA nonsynonymous SNV ENSG00000256436:ENST00000390675:exon1:c.G718A:p.V240I NA NA 12p13.2 NA NA NA NA rs10772423 0.39 0.39 0.362 0.335264 0.4801 0.1944 0.4568 0.3427 0.2352 0.5 0.25 0.42 0.35 0.4251 0.5 1 T 0.002 B 0.002 B . . 1.000 P -0.76 N 1.25 T -0.983 T 0.000 T 0.021 -1.651 0.012 -4.77 -1.565 -4.168 3.216 -1.651065 NA NA 0.482907 0.360191 NA 0.377 NA 8.9452264 758 14 22133648 22133648 G A exonic OR4E2 NA nonsynonymous SNV OR4E2:NM_001001912:exon1:c.G352A:p.V118M exonic ENSG00000221977 NA nonsynonymous SNV ENSG00000221977:ENST00000408935:exon1:c.G352A:p.V118M Score=534;Name=lod=198 NA 14q11.2 NA NA NA NA rs2874103 0.74 0.74 0.767 0.720647 0.8141 0.499 0.7046 0.9463 0.5593 0.82 0.49 0.7 0.93 0.7571 0.93 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.91 N 5.7 T -0.984 T 0.000 T 0.092 -1.42 0.021 5.6 0.955 5.930 9.932 -1.419766 NA 1 0.817675 0.911337 NA 0.797 NA 8.9444584 758 12 54734289 54734289 A G exonic COPZ1 NA nonsynonymous SNV COPZ1:NM_001271736:exon2:c.A1G:p.M1V exonic ENSG00000111481 NA nonsynonymous SNV ENSG00000111481:ENST00000550713:exon1:c.A1G:p.M1V,ENSG00000111481:ENST00000549043:exon2:c.A1G:p.M1V NA NA 12q13.13 NA NA NA NA rs11170877 0.17 0.17 0.159 0.201278 0.1252 0.2222 0.2349 0.2413 0.18 0.12 0.22 0.21 0.16 0.154 0.26 0 D 0.0 B 0.0 B . . 1.000 P . . . . -1.061 T 0.000 T 0.248 0.619 7.333 2.49 0.206 0.266 4.024 0.619402 NA NA 0.111395 0.230595 ID=COSN164275;OCCURENCE=1(NS) 0.203 NA 8.9427384 758 10 88717154 88717154 C T exonic MMRN2 NA nonsynonymous SNV MMRN2:NM_024756:exon1:c.G145A:p.G49S exonic ENSG00000173269 NA nonsynonymous SNV ENSG00000173269:ENST00000372027:exon1:c.G145A:p.G49S NA NA 10q23.2 NA NA NA NA rs3750823 0.46 0.46 0.446 0.423522 0.4742 0.7113 0.4179 0.1899 0.3947 0.47 0.71 0.37 0.19 0.4495 0.71 0.82 T 0.001 B 0.0 B 0.183 N 1.000 P -0.46 N 2.61 T -0.979 T 0.000 T 0.015 -0.017 3.925 -5.26 -0.985 -1.357 6.089 -0.017394 NA 0.57 0.466977 0.226509 ID=COSM146986;OCCURENCE=1(stomach) 0.42 NA 8.9426564 758 15 42744094 42744094 A G exonic ZNF106 NA nonsynonymous SNV ZNF106:NM_022473:exon2:c.T307C:p.W103R exonic ENSG00000103994 NA nonsynonymous SNV ENSG00000103994:ENST00000263805:exon2:c.T307C:p.W103R,ENSG00000103994:ENST00000564754:exon5:c.T376C:p.W126R,ENSG00000103994:ENST00000567041:exon5:c.T376C:p.W126R NA NA 15q15.1 NA NA NA NA rs12440118 0.07 0.07 0.065 0.0589058 0.1362 0.006 0.1037 0.0068 0.0726 0.13 NA 0.12 0.01 0.1078 0.15 0.92 T 0.0 B 0.0 B 0.252 N 0.001 P 0.255 N 2.59 T -0.972 T 0.000 T 0.254 -0.434 1.982 -4.57 -1.037 -0.349 6.078 -0.433843 NA 0.98 0.149802 0.037449 NA 0.08 NA 8.9395314 758 9 139840560 139840560 C A exonic C8G NA nonsynonymous SNV C8G:NM_000606:exon4:c.C370A:p.H124N exonic ENSG00000176919 NA nonsynonymous SNV ENSG00000176919:ENST00000224181:exon4:c.C370A:p.H124N,ENSG00000176919:ENST00000371634:exon4:c.C370A:p.H124N NA NA 9q34.3 NA Name=USF-1 NA NA rs17613 0.12 0.12 0.095 0.107827 0.1312 0.0278 0.1066 0.1755 0.0757 0.14 0.03 0.12 0.17 0.1248 0.19 0.34 T 0.001 B 0.003 B 0.066 N 1.000 P 0.69 N 3.21 T -0.930 T 0.000 T 0.03 1.116 9.553 2.29 0.504 0.407 7.696 1.116446 NA 0.36 0.140447 0.1896 NA 0.072 NA 8.9368864 758 12 132237750 132237750 C T exonic SFSWAP NA synonymous SNV SFSWAP:NM_001261411:exon8:c.C1164T:p.D388D,SFSWAP:NM_004592:exon8:c.C1164T:p.D388D exonic ENSG00000061936 NA synonymous SNV ENSG00000061936:ENST00000535236:exon6:c.C543T:p.D181D,ENSG00000061936:ENST00000261674:exon8:c.C1164T:p.D388D,ENSG00000061936:ENST00000541286:exon8:c.C1164T:p.D388D NA NA 12q24.33 Score=963;Name=V$CDPCR3HD_01 NA NA NA rs1051219 0.13 0.13 0.1 0.102835 0.2565 0.001 0.2147 0.0091 0.0971 0.25 NA 0.26 0.01 0.196 0.28 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . -0.172 3.164 -4.44 -0.865 -0.993 8.718 -0.171526 NA NA 0.278488 0.047889 NA 0.058 NA 8.9356786 759 11 49227620 49227620 A G exonic FOLH1 NA nonsynonymous SNV FOLH1:NM_001014986:exon2:c.T223C:p.Y75H,FOLH1:NM_004476:exon2:c.T223C:p.Y75H,FOLH1:NM_001193471:exon3:c.T178C:p.Y60H,FOLH1:NM_001193472:exon3:c.T178C:p.Y60H exonic ENSG00000086205 NA stoploss ENSG00000086205:ENST00000525826:exon2:c.T223C:p.X75Q Score=363;Name=lod=40 NA 11p11.12 Score=885;Name=V$NKX3A_01 NA NA NA rs202676 0.35 0.35 0.346 0.386382 0.2256 0.3155 0.2896 0.6021 0.4018 0.23 0.34 0.27 0.59 0.2822 0.59 0.15 T 0.007 B 0.019 B 0.039 N 0.000 P 0.165 N 1.1 T -0.941 T 0.000 T 0.214 -0.706 0.951 1.93 0.011 0.183 7.803 -0.706256 NA 0.12 0.224086 0.523864 NA 0.297 NA 8.9347807 759 11 102650424 102650424 C T exonic MMP10 NA nonsynonymous SNV MMP10:NM_002425:exon2:c.G158A:p.R53K exonic ENSG00000166670 NA nonsynonymous SNV ENSG00000166670:ENST00000279441:exon2:c.G158A:p.R53K,ENSG00000166670:ENST00000539681:exon2:c.G158A:p.R53K NA NA 11q22.2 NA NA NA NA rs486055 0.06 0.06 0.062 0.0453275 0.1382 0.001 0.0663 0.0045 0.0358 0.14 NA 0.08 0.0041 0.1056 0.16 1 T 0.033 B 0.038 B 0.002 N 1.000 N 0.305 N 1.44 T -0.985 T 0.000 T 0.177 0.049 4.269 4.25 2.365 0.542 8.647 0.048987 NA 0.59 0.156199 0.027236 NA 0.029 NA 8.9333344 759 7 138603282 138603282 T C exonic KIAA1549 NA nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.A1090G:p.T364A,KIAA1549:NM_020910:exon2:c.A1090G:p.T364A exonic ENSG00000122778 NA nonsynonymous SNV ENSG00000122778:ENST00000242365:exon1:c.A940G:p.T314A,ENSG00000122778:ENST00000422774:exon2:c.A1090G:p.T364A,ENSG00000122778:ENST00000440172:exon2:c.A1090G:p.T364A NA NA 7q34 NA NA NA NA rs59985563 0.25 0.25 0.256 NA NA NA NA NA NA 0.18 0.14 0.16 0.55 0.2178 0.55 0.58 T 0.004 B 0.006 B 0.828 N 1.000 P 0.695 N 1.88 T -0.907 T 0.000 T 0.026 1.293 10.23 -2.67 -0.209 -1.444 3.949 1.292535 1.292535 0 0.182812 0.473794 ID=COSM1448417,COSM150400;OCCURENCE=1(stomach),1(large_intestine) 0.217 NA 8.9327214 759 4 6600012 6600012 A G exonic MAN2B2 NA nonsynonymous SNV MAN2B2:NM_015274:exon9:c.A1336G:p.M446V exonic ENSG00000013288 NA nonsynonymous SNV ENSG00000013288:ENST00000285599:exon9:c.A1336G:p.M446V,ENSG00000013288:ENST00000504248:exon9:c.A1183G:p.M395V Score=251;Name=lod=14 NA 4p16.1 NA NA NA NA rs2301790 0.5 0.5 0.475 0.499401 0.4483 0.6141 0.5101 0.4372 0.5102 0.46 0.62 0.51 0.43 0.4834 0.62 0.84 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N -0.76 T -0.939 T 0.000 T 0.273 -1.854 0.009 4.02 0.465 3.887 10.318 -1.853728 NA 1 0.469302 0.455061 ID=COSM448020;OCCURENCE=1(breast),1(central_nervous_system) 0.406 NA 8.9323314 759 5 35910529 35910529 C T exonic CAPSL NA nonsynonymous SNV CAPSL:NM_001042625:exon3:c.G254A:p.R85Q,CAPSL:NM_144647:exon3:c.G254A:p.R85Q exonic ENSG00000152611 NA nonsynonymous SNV ENSG00000152611:ENST00000397366:exon3:c.G254A:p.R85Q,ENSG00000152611:ENST00000397367:exon3:c.G254A:p.R85Q,ENSG00000152611:ENST00000513623:exon3:c.G254A:p.R85Q,ENSG00000152611:ENST00000514524:exon3:c.G254A:p.R85Q NA Name=Type 1 diabetes 5p13.2 Score=742;Name=V$PPARA_01 NA NA NA rs1445898 0.51 0.51 0.479 0.525359 0.4523 0.7609 0.5937 0.2277 0.7117 0.45 0.8 0.56 0.25 0.5051 0.8 0.4 T 0.001 B 0.001 B 0.114 N 1.000 P 0.985 L -0.67 T -0.977 T 0.000 T 0.025 -0.211 2.98 0.531 0.016 -1.012 6.870 -0.210599 NA 0.67 0.444302 0.276895 NA 0.522 NA 8.9316314 759 18 44560875 44560875 C A exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G761T:p.C254F exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G761T:p.C254F NA NA 18q21.1 NA NA NA NA rs2010834 0.51 0.51 0.514 0.534145 0.4433 0.6448 0.6239 0.4349 0.5838 0.44 0.63 0.58 0.43 0.5058 0.63 0.44 T 0.115 B 0.03 B 0.040 U 1.000 P 0 N 3.31 T -0.936 T 0.000 T 0.093 -2.882 0.001 -3.04 -2.994 -1.841 2.302 -2.88178 NA 0.8 0.454535 0.442578 NA 0.42 NA 8.9296984 759 1 248224398 248224398 A G exonic OR2L3 NA nonsynonymous SNV OR2L3:NM_001004687:exon1:c.A415G:p.M139V exonic ENSG00000198128 NA nonsynonymous SNV ENSG00000198128:ENST00000359959:exon1:c.A415G:p.M139V NA NA 1q44 NA NA NA NA rs55937620 0.22 0.22 0.175 0.188498 0.1461 0.255 0.098 0.298 0.0798 0.15 0.31 0.1 0.3 0.1479 0.31 1 T 0.0 B 0.001 B 0.475 N 1.000 P -1.36 N 8.97 T -0.939 T 0.000 T 0.017 -2.46 0.003 -2.25 -0.738 -1.463 0.508 -2.460401 NA 1 0.109767 0.224921 NA 0.167 NA 8.9295664 759 19 1042809 1042809 A G exonic ABCA7 NA nonsynonymous SNV ABCA7:NM_019112:exon7:c.A563G:p.E188G exonic ENSG00000064687 NA nonsynonymous SNV ENSG00000064687:ENST00000435683:exon1:c.A149G:p.E50G,ENSG00000064687:ENST00000433129:exon6:c.A563G:p.E188G,ENSG00000064687:ENST00000263094:exon7:c.A563G:p.E188G NA NA 19p13.3 NA NA Name=14 NA rs3764645 0.41 0.41 0.357 0.399561 0.4463 0.4355 0.6268 0.1657 0.4693 0.45 0.47 0.6 0.14 0.4838 0.6 0.49 T 0.358 B 0.058 B . . 1.000 P 0 N -2.13 D -0.953 T 0.000 T 0.127 0.645 7.46 -0.62 -0.436 -1.730 4.106 0.64452 NA 0.32 0.473953 0.222197 NA 0.413 NA 8.9292804 759 15 34638198 34638198 A G UTR5 NUTM1 NM_175741:c.-23A>G NA NA exonic ENSG00000184507 NA nonsynonymous SNV ENSG00000184507:ENST00000537011:exon2:c.A62G:p.Q21R NA NA 15q14 NA NA NA NA rs12595504 0.2 0.2 0.181 0.195088 0.1362 0.3363 0.1801 0.1286 0.2106 0.14 0.35 0.17 0.14 0.15 0.35 0.73 T 0.0 B 0.001 B . . 1.000 P . . 3.28 T -0.913 T 0.000 T 0.018 -1.282 0.042 -9.83 -2.468 -3.054 5.532 -1.281719 NA NA 0.117962 0.143344 ID=COSN164891;OCCURENCE=1(NS) 0.109 NA 8.9291714 759 22 41783659 41783659 C T exonic TEF NA synonymous SNV TEF:NM_001145398:exon2:c.C372T:p.T124T,TEF:NM_003216:exon2:c.C462T:p.T154T exonic ENSG00000167074 NA synonymous SNV ENSG00000167074:ENST00000266304:exon2:c.C462T:p.T154T,ENSG00000167074:ENST00000406644:exon2:c.C372T:p.T124T Score=454;Name=lod=93 NA 22q13.2 Score=993;Name=V$AREB6_04 NA NA NA rs11546403 0.18 0.18 0.13 0.199481 0.2376 0.0565 0.4409 0.0227 0.3753 0.23 0.06 0.47 0.03 0.2673 0.47 . . . . . . . . 0.000 P . . . . -0.901 T 0.000 T . 1.019 9.161 -3.92 -0.207 -0.492 1.728 1.018676 NA NA 0.232907 0.053336 NA 0.225 NA 8.9288596 759 14 24662177 24662177 C T exonic TM9SF1 NA nonsynonymous SNV TM9SF1:NM_001014842:exon3:c.G644A:p.R215H,TM9SF1:NM_006405:exon3:c.G644A:p.R215H exonic ENSG00000100926,ENSG00000254692 NA nonsynonymous SNV ENSG00000100926:ENST00000528669:exon2:c.G644A:p.R215H,ENSG00000100926:ENST00000261789:exon3:c.G644A:p.R215H,ENSG00000100926:ENST00000396854:exon3:c.G644A:p.R215H,ENSG00000100926:ENST00000524835:exon3:c.G383A:p.R128H,ENSG00000100926:ENST00000525592:exon3:c.G644A:p.R215H,ENSG00000100926:ENST00000528895:exon3:c.G644A:p.R215H,ENSG00000100926:ENST00000529332:exon3:c.G644A:p.R215H,ENSG00000100926:ENST00000530468:exon3:c.G644A:p.R215H,ENSG00000100926:ENST00000530563:exon3:c.G383A:p.R128H,ENSG00000254692:ENST00000530611:exon7:c.G1271A:p.R424H,ENSG00000100926:ENST00000556387:exon7:c.G1271A:p.R424H NA NA 14q12 NA NA NA NA rs10583 0.07 0.07 0.058 0.0547125 0.1421 0.003 0.1066 0.0053 0.0481 0.14 0.01 0.12 0.01 0.1076 0.15 0.21 T 0.016 B 0.002 B 0.059 N 0.998 P -0.895 N 0.96 T -1.029 T 0.000 T 0.294 0.22 5.187 -3.78 -1.011 0.594 11.911 0.220125 NA 0.56 0.154884 0.031094 NA 0.051 NA 8.9287494 759 12 31249861 31249861 C G exonic DDX11 NA nonsynonymous SNV DDX11:NM_001257144:exon17:c.C1699G:p.Q567E,DDX11:NM_001257145:exon17:c.C1621G:p.Q541E,DDX11:NM_004399:exon17:c.C1699G:p.Q567E,DDX11:NM_030653:exon17:c.C1699G:p.Q567E,DDX11:NM_152438:exon17:c.C1699G:p.Q567E exonic ENSG00000013573 NA nonsynonymous SNV ENSG00000013573:ENST00000228264:exon17:c.C1621G:p.Q541E,ENSG00000013573:ENST00000350437:exon17:c.C1699G:p.Q567E,ENSG00000013573:ENST00000407793:exon17:c.C1699G:p.Q567E,ENSG00000013573:ENST00000542838:exon17:c.C1699G:p.Q567E,ENSG00000013573:ENST00000545668:exon17:c.C1699G:p.Q567E Score=437;Name=lod=80 NA 12p11.21 NA NA NA NA rs2075322 0.64 0.64 0.591 0.641174 0.4284 0.8294 0.6066 0.708 0.6002 0.43 0.85 0.59 0.75 0.5273 0.85 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . 2.46 T -0.958 T 0.000 T 0.095 -0.771 0.756 2.6 0.170 5.344 10.825 -0.770984 NA 1 0.450698 0.684294 NA 0.536 NA 8.9269354 759 6 31322303 31322303 C G exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon7:c.G1046C:p.C349S exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000412585:exon7:c.G1046C:p.C349S NA NA 6p21.33 NA Name=Pol2-4H8,Pol2 Name=4 NA rs2308655 0.57 0.57 0.555 0.592252 0.4503 0.626 0.6167 0.6853 0.5603 0.44 0.6 0.65 0.66 0.5247 0.66 1 T 0.0 B 0.003 B 0.000 N 1.000 P . . 5.27 T -0.976 T 0.001 T 0.125 -0.537 1.559 0.307 -0.358 -2.321 5.655 -0.537263 NA 1 0.43186 0.619837 NA 0.565 NA 8.9264734 759 10 13234356 13234356 A T exonic MCM10 NA nonsynonymous SNV MCM10:NM_018518:exon12:c.A1618T:p.T540S,MCM10:NM_182751:exon12:c.A1621T:p.T541S exonic ENSG00000065328 NA nonsynonymous SNV ENSG00000065328:ENST00000378694:exon11:c.A1618T:p.T540S,ENSG00000065328:ENST00000378714:exon12:c.A1618T:p.T540S,ENSG00000065328:ENST00000484800:exon12:c.A1621T:p.T541S NA NA 10p13 NA NA NA NA rs7905784 0.09 0.09 0.083 0.0640974 0.1431 0.0139 0.0648 0.0688 0.0276 0.15 0.02 0.09 0.08 0.1176 0.15 0.75 T 0.002 B 0.006 B 0.828 N 1.000 P -0.345 N 1.6 T -0.972 T 0.000 T 0.02 -1.466 0.019 4.38 0.912 2.074 3.083 -1.465822 NA 0.74 0.146279 0.088062 NA 0.109 NA 8.9263544 760 13 31531009 31531009 G A splicing TEX26 NM_152325:exon4:c.313-1G>A NA NA splicing ENSG00000175664 ENST00000380473:exon4:c.313-1G>A,ENST00000531960:exon3:c.138-1G>A NA NA NA NA 13q12.3 NA NA Name=2 NA rs12857479 0.26 0.26 0.225 0.254792 0.3628 0.2946 0.3141 0.0469 0.3415 0.37 0.27 0.32 0.04 0.3419 0.37 . . . . . . . . 0.000 P . . . . . . . . . 1.198 9.869 4.71 2.145 2.665 13.163 1.198433 NA NA 0.370349 0.09941 NA 0.159 NA 8.924951 760 7 73115201 73115201 G A intronic STX1A NA NA NA exonic ENSG00000106089 NA nonsynonymous SNV ENSG00000106089:ENST00000395155:exon9:c.C739T:p.L247F Score=243;Name=lod=13 NA 7q11.23 NA NA NA NA rs41271241 0.09 0.09 0.1 0.0946486 0.0785 0.0198 0.1052 0.177 0.0695 0.08 0.02 0.1 0.17 0.092 0.17 0.01 D 0.01 B 0.009 B . . 0.000 P . . 1.09 T -1.080 T 0.000 T 0.178 3.331 17.21 2.42 0.526 0.459 5.429 3.331306 3.331306 0 0.071512 0.166591 NA 0.072 NA 8.9246547 760 11 71259822 71259822 A G exonic KRTAP5-9 NA nonsynonymous SNV KRTAP5-9:NM_005553:exon1:c.A119G:p.Y40C exonic ENSG00000254997 NA nonsynonymous SNV ENSG00000254997:ENST00000528743:exon1:c.A119G:p.Y40C Score=495;Name=lod=137 NA 11q13.4 NA NA Name=12 NA rs10792769 0.18 0.18 0.188 0.197484 0.1362 0.1329 0.1455 0.4062 0.0818 0.13 0.12 0.14 0.36 0.1494 0.36 1 T 0.0 B 0.001 B . . 1.000 P -3.37 N 4.24 T -0.942 T 0.000 T 0.065 0.493 6.676 1.57 0.236 0.754 4.115 0.493371 NA NA 0.123777 0.363182 NA 0.116 NA 8.9239564 760 5 176637240 176637240 G T exonic NSD1 NA nonsynonymous SNV NSD1:NM_022455:exon5:c.G1840T:p.V614L,NSD1:NM_172349:exon6:c.G1033T:p.V345L exonic ENSG00000165671 NA nonsynonymous SNV ENSG00000165671:ENST00000361032:exon2:c.G1531T:p.V511L,ENSG00000165671:ENST00000439151:exon5:c.G1840T:p.V614L,ENSG00000165671:ENST00000347982:exon6:c.G1033T:p.V345L,ENSG00000165671:ENST00000354179:exon6:c.G1033T:p.V345L NA NA 5q35.3 NA NA NA NA rs3733875 0.22 0.22 0.212 0.228634 0.1193 0.5119 0.2147 0.0749 0.2669 0.12 0.51 0.19 0.08 0.1762 0.51 . . 0.002 B 0.009 B 0.193 N 0.999 P 0.345 N -3.03 D -0.976 T 0.000 T 0.052 -1.388 0.024 -1.26 -0.383 -0.301 1.373 -1.388241 NA 0.48 0.114186 0.070359 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082107.1;CLNDSDB=.;CLNDSDBID=. 8.9236474 760 18 28898294 28898294 A G exonic DSG1 NA nonsynonymous SNV DSG1:NM_001942:exon1:c.A31G:p.M11V exonic ENSG00000134760 NA nonsynonymous SNV ENSG00000134760:ENST00000257192:exon1:c.A31G:p.M11V Score=313;Name=lod=25 NA 18q12.1 NA NA NA NA rs1426310 0.35 0.35 0.346 0.36262 0.4911 0.0694 0.2997 0.4349 0.4796 0.5 0.06 0.35 0.43 0.4344 0.5 0.86 T 0.0 B 0.0 B 0.394 N 0.124 P -1.39 N 0.59 T -0.919 T 0.000 T 0.04 -0.231 2.884 4.32 0.446 1.404 6.066 -0.231213 NA NA 0.487326 0.465502 NA 0.435 NA 8.9205074 760 17 7400815 7400815 T C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon6:c.T960C:p.N320N exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon6:c.T960C:p.N320N,ENSG00000181222:ENST00000572844:exon6:c.T960C:p.N320N Score=619;Name=lod=436 NA 17p13.1 NA Name=c-Fos,Max Name=22 Score=92;Name=958479_0_+_92 rs2228128 0.16 0.16 0.132 0.117612 0.2664 0.0536 0.1354 0.0598 0.0961 0.27 0.06 0.17 0.08 0.199 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448452 NA NA 0.280814 0.089197 NA 0.101 NA 8.9204526 760 1 27709020 27709020 T C exonic CD164L2 NA nonsynonymous SNV CD164L2:NM_207397:exon2:c.A226G:p.M76V exonic ENSG00000174950 NA nonsynonymous SNV ENSG00000174950:ENST00000374025:exon2:c.A226G:p.M76V,ENSG00000174950:ENST00000374027:exon2:c.A226G:p.M76V,ENSG00000174950:ENST00000374030:exon2:c.A226G:p.M76V Score=313;Name=lod=25 NA 1p36.11 NA NA NA NA rs2504779 0.28 0.28 0.278 0.336661 0.1362 0.3998 0.0764 0.6082 0.2955 0.13 0.35 0.08 0.59 0.1798 0.59 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.075 N 1.31 T -0.918 T 0.000 T 0.042 -2.099 0.006 3.58 0.524 0.367 6.445 -2.098954 NA 1 0.097442 0.526782 NA 0.261 NA 8.9198914 760 11 1264183 1264183 G A exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.G6073A:p.A2025T exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.G6082A:p.A2028T,ENSG00000117983:ENST00000529681:exon31:c.G6073A:p.A2025T NA NA 11p15.5 NA NA NA NA rs34739266 0.07 0.07 0.044 0.0852636 0.1421 0.0208 0.0908 0.0325 0.1605 0.13 0.02 0.09 0.02 0.1225 0.15 0 D 0.0 B 0.0 B . . 1.000 N -1.59 N 2.5 T -0.933 T 0.000 T 0.043 0.062 4.339 -1.71 -1.757 0.082 6.783 0.062304 NA NA 0.149762 0.044592 NA 0.029 NA 8.9189714 760 6 80228541 80228541 A G exonic LCA5 NA nonsynonymous SNV LCA5:NM_001122769:exon2:c.T71C:p.L24S,LCA5:NM_181714:exon3:c.T71C:p.L24S exonic ENSG00000135338 NA nonsynonymous SNV ENSG00000135338:ENST00000467898:exon1:c.T71C:p.L24S,ENSG00000135338:ENST00000369846:exon2:c.T71C:p.L24S,ENSG00000135338:ENST00000392959:exon3:c.T71C:p.L24S Score=349;Name=lod=35 NA 6q14.1 NA Name=GATA-1 NA NA rs2655655 0.89 0.89 0.89 0.890575 0.7893 0.9722 0.8847 0.9478 0.8374 0.79 0.98 0.87 0.95 0.8346 0.98 0.58 T 0.0 B 0.0 B 0.042 N 1.000 P -1.7 N 1.68 T -0.942 T 0.005 T 0.063 0.099 4.533 4.41 0.816 2.720 9.370 0.098931 NA 0.22 0.792442 0.923967 NA 0.891 NA 8.9169914 761 1 9017204 9017204 A G exonic CA6 NA nonsynonymous SNV CA6:NM_001270501:exon2:c.A88G:p.S30G,CA6:NM_001215:exon3:c.A268G:p.S90G,CA6:NM_001270500:exon3:c.A268G:p.S90G exonic ENSG00000131686 NA nonsynonymous SNV ENSG00000131686:ENST00000377442:exon2:c.A88G:p.S30G,ENSG00000131686:ENST00000377436:exon3:c.A268G:p.S90G,ENSG00000131686:ENST00000377443:exon3:c.A268G:p.S90G,ENSG00000131686:ENST00000549778:exon3:c.A172G:p.S58G NA NA 1p36.23 NA NA NA NA rs2274333 0.32 0.32 0.29 0.34385 0.2913 0.5575 0.3919 0.1135 0.455 0.29 0.54 0.35 0.1 0.3317 0.54 0.13 T 0.984 D 0.789 P 0.304 N 0.999 P 2.015 M 0.64 T -1.003 T 0.000 T 0.346 3.924 19.96 -0.413 -0.257 0.016 1.558 3.924134 3.924134 0.3 0.296279 0.159101 NA 0.239 NA 8.9140544 761 11 5411031 5411031 C T exonic OR51M1 NA nonsynonymous SNV OR51M1:NM_001004756:exon1:c.C403T:p.L135F exonic ENSG00000184698 NA nonsynonymous SNV ENSG00000184698:ENST00000328611:exon1:c.C403T:p.L135F Score=448;Name=lod=88 NA 11p15.4 Score=850;Name=V$FAC1_01 NA NA NA rs1498468 0.69 0.69 0.688 0.698682 0.8231 0.5486 0.7277 0.6815 0.728 0.81 0.54 0.74 0.64 0.7684 0.83 1 T . . . . 0.064 N 0.000 P . . 1.32 T -0.963 T 0.000 T 0.043 -0.975 0.3 5.05 0.947 4.491 7.469 -0.974717 NA 1 0.828224 0.738234 NA 0.688 NA 8.9136094 761 6 90372574 90372574 A C exonic MDN1 NA nonsynonymous SNV MDN1:NM_014611:exon86:c.T14349G:p.D4783E exonic ENSG00000112159 NA nonsynonymous SNV ENSG00000112159:ENST00000369393:exon86:c.T14349G:p.D4783E,ENSG00000112159:ENST00000428876:exon86:c.T14349G:p.D4783E NA NA 6q15 NA NA NA NA rs36040566 0.08 0.08 0.065 0.0888578 0.1551 0.0476 0.085 0.0053 0.1789 0.14 0.04 0.07 0.01 0.1206 0.14 0.77 T 0.002 B 0.004 B 0.016 N 1.000 P -0.225 N 3.99 T -0.943 T 0.001 T 0.069 1.022 9.175 -6.99 -0.797 -2.338 1.043 1.022246 NA 0.6 0.144186 0.028143 NA 0.123 NA 8.9134474 761 11 5475118 5475118 A G exonic OR51I2 NA nonsynonymous SNV OR51I2:NM_001004754:exon1:c.A400G:p.T134A exonic ENSG00000187918 NA nonsynonymous SNV ENSG00000187918:ENST00000341449:exon1:c.A400G:p.T134A NA NA 11p15.4 Score=799;Name=V$OCT1_01 NA NA NA rs12577167 0.18 0.18 0.149 0.192692 0.1282 0.3581 0.1628 0.0666 0.2802 0.14 0.33 0.16 0.07 0.1663 0.33 0.12 T 0.002 B 0.002 B 0.002 N 0.016 P 0.915 L 6.67 T -0.912 T 0.000 T 0.052 1.207 9.901 1.77 0.520 -1.476 2.150 1.20676 NA 0.23 0.126949 0.069741 NA 0.109 NA 8.9118844 761 2 47601106 47601106 T C exonic EPCAM NA nonsynonymous SNV EPCAM:NM_002354:exon3:c.T344C:p.M115T exonic ENSG00000119888 NA nonsynonymous SNV ENSG00000119888:ENST00000263735:exon3:c.T344C:p.M115T,ENSG00000119888:ENST00000419334:exon3:c.T572C:p.M191T,ENSG00000119888:ENST00000405271:exon4:c.T428C:p.M143T,ENSG00000119888:ENST00000456133:exon4:c.T428C:p.M143T NA NA 2p21 Score=960;Name=V$USF_C Name=SMC3_(ab9263),CTCF_(SC-5916),USF-1,CTCF,CTCF_(C-20),Rad21 Name=21 NA rs1126497 0.66 0.66 0.666 0.666134 0.4692 0.8323 0.5159 0.8888 0.5031 0.48 0.8 0.5 0.89 0.5198 0.89 1 T 0.0 B 0.0 B 0.060 N 1.000 P -0.895 N 0.05 T -0.934 T 0.000 T 0.48 -0.14 3.317 1.71 0.160 0.040 11.894 -0.13965 NA 0.98 0.432791 0.828189 NA 0.58 NA 8.9115424 761 12 132325239 132325239 G A exonic MMP17 NA nonsynonymous SNV MMP17:NM_016155:exon4:c.G544A:p.A182T exonic ENSG00000198598 NA nonsynonymous SNV ENSG00000198598:ENST00000534865:exon1:c.G67A:p.A23T,ENSG00000198598:ENST00000535291:exon3:c.G292A:p.A98T,ENSG00000198598:ENST00000545671:exon3:c.G232A:p.A78T,ENSG00000198598:ENST00000360564:exon4:c.G544A:p.A182T,ENSG00000198598:ENST00000545790:exon4:c.G292A:p.A98T NA Name=Migraine 12q24.33 NA NA NA NA rs6598163 0.46 0.46 0.414 0.453674 0.4583 0.5238 0.4424 0.4516 0.3875 0.47 0.48 0.45 0.43 0.4745 0.49 0.06 T 0.051 B 0.022 B 0.495 N 1.000 P -0.085 N 2.6 T -0.904 T 0.000 T 0.188 1.234 10.01 -5.13 -0.983 -0.298 8.995 1.233697 1.233697 0.21 0.490463 0.435542 NA 0.594 NA 8.9100704 761 16 27720201 27720201 C T exonic KIAA0556 NA nonsynonymous SNV KIAA0556:NM_015202:exon13:c.C1565T:p.T522M exonic ENSG00000047578 NA nonsynonymous SNV ENSG00000047578:ENST00000261588:exon13:c.C1565T:p.T522M NA NA 16p12.1 NA NA NA NA rs12930355 0.09 0.09 0.071 0.0682907 0.1551 0.001 0.1715 0.0189 0.0419 0.16 NA 0.15 0.02 0.1191 0.16 0.23 T 0.016 B 0.008 B 0.448 N 1.000 P 0.41 N 2.55 T -0.947 T 0.000 T 0.084 -0.158 3.23 -4.56 -0.536 -1.350 4.977 -0.157586 NA 0.16 0.149302 0.050523 ID=COSM50424;OCCURENCE=1(large_intestine) 0.036 NA 8.9098314 761 11 5411395 5411395 C A exonic OR51M1 NA nonsynonymous SNV OR51M1:NM_001004756:exon1:c.C767A:p.P256H exonic ENSG00000184698 NA nonsynonymous SNV ENSG00000184698:ENST00000328611:exon1:c.C767A:p.P256H Score=369;Name=lod=42 NA 11p15.4 NA NA NA NA rs9783355 0.7 0.7 0.707 0.71226 0.8231 0.5387 0.7349 0.7368 0.728 0.81 0.52 0.75 0.7 0.7724 0.83 1 T . . . . 0.003 N 0.000 P . . 9.37 T -1.077 T 0.000 T 0.058 -0.41 2.083 5.24 1.021 6.718 11.525 -0.410268 NA 1 0.828296 0.780659 NA 0.71 NA 8.9095374 761 19 8121369 8121369 C T exonic CCL25 NA nonsynonymous SNV CCL25:NM_001201359:exon4:c.C311T:p.T104M,CCL25:NM_005624:exon4:c.C311T:p.T104M exonic ENSG00000131142 NA nonsynonymous SNV ENSG00000131142:ENST00000390669:exon3:c.C311T:p.T104M,ENSG00000131142:ENST00000253451:exon4:c.C311T:p.T104M NA NA 19p13.2 NA NA NA NA rs1129763 0.11 0.11 0.09 0.095647 0.1491 0.1032 0.098 0.0098 0.1472 0.16 0.12 0.12 0.01 0.1347 0.16 0.17 T 0.013 B 0.002 B 0.000 N 1.000 P 0 N 3.81 T -0.954 T 0.000 T 0.02 -0.269 2.71 -5.63 -2.300 -0.496 0.376 -0.269094 NA 0.13 0.140224 0.029112 NA 0.138 NA 8.9093094 761 17 66364804 66364804 T C exonic ARSG NA nonsynonymous SNV ARSG:NM_001267727:exon7:c.T820C:p.W274R,ARSG:NM_014960:exon7:c.T820C:p.W274R exonic ENSG00000141337 NA nonsynonymous SNV ENSG00000141337:ENST00000452479:exon6:c.T328C:p.W110R,ENSG00000141337:ENST00000448504:exon7:c.T820C:p.W274R NA NA 17q24.2 NA Name=AP-2alpha,AP-2gamma NA NA rs1558878 0.37 0.37 0.327 0.359425 0.4831 0.2351 0.4424 0.3185 0.3569 0.48 0.25 0.42 0.3 0.4439 0.5 0.54 T 0.0 B 0.0 B 0.489 N 1.000 P -1.645 N . . -0.914 T 0.000 T 0.045 -1.427 0.021 4.28 1.467 0.486 5.011 -1.427426 NA 0.8 0.497209 0.345892 NA 0.406 NA 8.9091244 761 14 94933695 94933695 G A exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_175739:exon3:c.C707T:p.P236L,SERPINA9:NM_001042518:exon4:c.C407T:p.P136L exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000337425:exon3:c.C707T:p.P236L,ENSG00000170054:ENST00000380365:exon3:c.C653T:p.P218L,ENSG00000170054:ENST00000448305:exon3:c.C413T:p.P138L,ENSG00000170054:ENST00000546329:exon3:c.C599T:p.P200L,ENSG00000170054:ENST00000298845:exon4:c.C407T:p.P136L,ENSG00000170054:ENST00000424550:exon4:c.C260T:p.P87L NA NA 14q32.13 NA NA NA NA rs17090921 0.33 0.33 0.299 0.322484 0.3101 0.4643 0.3847 0.146 0.3834 0.32 0.48 0.35 0.16 0.3146 0.48 0.1 T 0.773 P 0.289 B 0.000 N 1.000 P 2.055 M -2.01 D -1.056 T 0.000 T 0.125 1.435 10.74 1.87 0.390 0.933 5.002 1.435279 1.435279 0.05 0.30075 0.161895 NA 0.268 NA 8.9078834 761 7 151680175 151680175 C T exonic GALNTL5 NA nonsynonymous SNV GALNTL5:NM_145292:exon4:c.C473T:p.T158M exonic ENSG00000106648 NA nonsynonymous SNV ENSG00000106648:ENST00000392800:exon4:c.C473T:p.T158M,ENSG00000106648:ENST00000431418:exon5:c.C473T:p.T158M NA NA 7q36.1 NA NA NA NA rs35682935 0.12 0.12 0.116 0.129992 0.1511 0.1597 0.1239 0.0113 0.2423 0.13 0.2 0.13 0.01 0.1358 0.2 0.22 T 0.0 B 0.0 B 0.371 N 1.000 P -1.235 N 0.13 T -1.086 T 0.000 T 0.045 0.342 5.856 2.2 0.038 1.946 6.423 0.342146 NA 0.3 0.14 0.028597 NA 0.123 NA 8.9064334 761 5 54459961 54459961 A G exonic GPX8 NA nonsynonymous SNV GPX8:NM_001008397:exon3:c.A545G:p.K182R exonic ENSG00000164294 NA nonsynonymous SNV ENSG00000164294:ENST00000503787:exon3:c.A545G:p.K182R,ENSG00000164294:ENST00000515370:exon3:c.A392G:p.K131R Score=638;Name=lod=521 NA 5q11.2 NA NA NA NA rs381852 0.84 0.84 0.857 0.833067 0.7903 0.8274 0.8646 0.9145 0.7505 0.78 0.85 0.85 0.91 0.8095 0.91 0.43 T 0.0 B 0.0 B 0.000 N 0.000 P -0.695 N 3.87 T -1.032 T 0.000 T 0.084 2.632 14.76 5.92 1.515 1.946 15.410 2.632157 2.632157 0.75 0.827442 0.882206 NA 0.891 NA 8.9060914 762 11 5411580 5411580 T C exonic OR51M1 NA nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T952C:p.F318L exonic ENSG00000184698 NA nonsynonymous SNV ENSG00000184698:ENST00000328611:exon1:c.T952C:p.F318L NA NA 11p15.4 NA Name=CTCF NA NA rs10768907 0.67 0.67 0.702 0.714457 0.8231 0.5476 0.7349 0.7383 0.728 0.78 0.5 0.72 0.66 0.7789 0.83 1 T . . . . 0.537 N 1.000 P . . 1.54 T -0.978 T 0.000 T 0.022 -1.911 0.008 -7.92 -1.475 -1.075 6.02 -1.910607 NA 1 0.826471 0.776906 NA NA NA 8.9048624 762 19 44302624 44302624 T C exonic LYPD5 NA nonsynonymous SNV LYPD5:NM_001031749:exon4:c.A500G:p.N167S,LYPD5:NM_182573:exon4:c.A371G:p.N124S exonic ENSG00000159871 NA nonsynonymous SNV ENSG00000159871:ENST00000594013:exon3:c.A371G:p.N124S,ENSG00000159871:ENST00000377950:exon4:c.A500G:p.N167S,ENSG00000159871:ENST00000414615:exon4:c.A371G:p.N124S,ENSG00000159871:ENST00000594049:exon4:c.A371G:p.N124S Score=415;Name=lod=65 NA 19q13.31 Score=770;Name=V$MIF1_01 NA NA NA rs349053 0.38 0.38 0.387 0.445288 0.4791 0.1498 0.3199 0.5469 0.6667 0.47 0.13 0.4 0.52 0.4613 0.55 0.07 T 0.271 B 0.066 B 0.339 N 0.987 P 0.895 L -0.38 T -0.928 T 0.000 T 0.013 2.384 13.93 2.15 0.212 0.898 5.960 2.383557 2.383557 0.09 0.488488 0.554925 ID=COSM1394320,COSM1394321;OCCURENCE=1(large_intestine) 0.5 NA 8.9044454 762 19 42190859 42190859 A T exonic CEACAM7 NA nonsynonymous SNV CEACAM7:NM_006890:exon2:c.T358A:p.F120I exonic ENSG00000007306 NA nonsynonymous SNV ENSG00000007306:ENST00000006724:exon2:c.T358A:p.F120I,ENSG00000007306:ENST00000338196:exon2:c.T358A:p.F120I,ENSG00000007306:ENST00000401731:exon2:c.T358A:p.F120I,ENSG00000007306:ENST00000602225:exon2:c.T358A:p.F120I NA NA 19q13.2 NA NA NA NA rs8102488 0.57 0.57 0.603 0.593251 0.4543 0.5109 0.513 0.8389 0.546 0.46 0.53 0.53 0.82 0.5122 0.82 0.42 T 0.001 B 0.004 B . . 1.000 P 1.7 L 0.04 T -0.961 T 0.000 T 0.054 -0.663 1.095 -3.36 -3.597 -3.387 3.971 -0.662917 NA 0.14 0.462907 0.781888 NA 0.601 NA 8.9039264 762 11 1269215 1269215 C T exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.C11105T:p.T3702M exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.C11114T:p.T3705M,ENSG00000117983:ENST00000529681:exon31:c.C11105T:p.T3702M NA NA 11p15.5 NA NA NA NA rs34528873 NA NA 0.038 0.0840655 0.1471 0.0208 0.0821 0.028 0.1616 NA NA NA NA 0.1253 0.16 0 D 0.974 D 0.32 B . . 1.000 N 1.24 L 2.29 T -1.025 T 0.000 T 0.053 0.002 4.022 -0.734 -0.112 -0.099 3.908 0.001605 NA NA 0.157572 0.042564 NA 0.029 NA 8.9033614 762 3 9876919 9876919 G A exonic TTLL3 NA nonsynonymous SNV TTLL3:NM_001025930:exon13:c.G2494A:p.A832T exonic ENSG00000214021 NA nonsynonymous SNV ENSG00000214021:ENST00000426895:exon13:c.G2494A:p.A832T,ENSG00000214021:ENST00000547186:exon13:c.G2065A:p.A689T NA NA 3p25.3 Score=875;Name=V$AP1_01 Name=TCF4 NA NA rs1057278 0.15 0.15 0.141 0.134784 0.1243 0.0565 0.1081 0.2572 0.0798 0.13 0.06 0.12 0.29 0.1475 0.29 0.13 T 0.009 B 0.004 B 0.009 N 0.000 P 0 N 3.51 T -0.922 T 0.000 T 0.115 2.159 13.18 0.904 0.184 0.599 6.033 2.159321 2.159321 0.03 0.160005 0.230496 NA 0.13 NA 8.9015284 762 4 2195024 2195024 T G exonic POLN NA nonsynonymous SNV POLN:NM_181808:exon5:c.A928C:p.M310L exonic ENSG00000130997 NA nonsynonymous SNV ENSG00000130997:ENST00000382865:exon5:c.A928C:p.M310L,ENSG00000130997:ENST00000511885:exon7:c.A928C:p.M310L NA NA 4p16.3 NA NA NA NA rs10018786 0.32 0.32 0.325 0.330671 0.1243 0.372 0.2464 0.6029 0.1922 0.13 0.37 0.25 0.61 0.194 0.61 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.78 N 2.61 T -0.944 T 0.000 T 0.197 -2.116 0.006 4.64 0.701 2.467 7.320 -2.116122 NA 1 0.115233 0.534952 NA 0.384 NA 8.8998004 762 14 20296010 20296010 G C exonic OR4N2 NA nonsynonymous SNV OR4N2:NM_001004723:exon1:c.G403C:p.V135L exonic ENSG00000176294 NA nonsynonymous SNV ENSG00000176294:ENST00000315947:exon1:c.G403C:p.V135L,ENSG00000176294:ENST00000568211:exon1:c.G403C:p.V135L,ENSG00000176294:ENST00000557677:exon2:c.G403C:p.V135L NA NA 14q11.2 NA Name=CTCF NA NA rs17114261 0.19 0.19 0.179 NA NA NA NA NA NA 0.2 0.12 0.17 0.28 0.2206 0.28 0.02 D 0.001 B 0.007 B 0.009 N 1.000 P -0.485 N 5.35 T -0.903 T 0.000 T 0.242 0.89 8.615 -0.609 -0.010 -0.609 4.475 0.889998 NA 0.05 0.215349 0.254426 NA 0.232 NA 8.8973844 762 5 70806457 70806457 G A exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon17:c.G3538A:p.G1180S exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon17:c.G3538A:p.G1180S NA NA 5q13.2 NA NA NA NA rs715748 0.42 0.42 0.414 0.439696 0.492 0.379 0.3444 0.4107 0.5552 0.5 0.39 0.35 0.4 0.4631 0.5 0.16 T 0.0 B 0.0 B 0.349 N 1.000 P 0.69 N 3.43 T -0.930 T 0.000 T 0.035 0.986 9.024 -4.52 -1.480 -2.097 6.220 0.985723 NA 0.06 0.481432 0.381794 NA 0.406 NA 8.8968014 762 12 97136218 97136218 T C intergenic CDK17,NEDD1 dist=341852;dist=164783 NA NA exonic ENSG00000270032 NA nonsynonymous SNV ENSG00000270032:ENST00000524981:exon19:c.T2426C:p.V809A NA NA 12q23.1 Score=831;Name=V$FREAC3_01 NA NA NA rs7978894 0.44 0.44 0.438 0.429113 0.2992 0.5625 0.3429 0.5287 0.3517 0.31 0.59 0.35 0.54 0.353 0.59 0.6 T 0.0 B 0.0 B 0.004 N 1.000 P -1.59 N . . -0.945 T 0.000 T 0.015 -0.556 1.487 -7.86 -1.575 -1.518 1.238 -0.555673 NA 0.97 0.285714 0.510445 NA 0.29 NA 8.8954194 763 11 61672265 61672265 T C exonic RAB3IL1 NA synonymous SNV RAB3IL1:NM_001271686:exon5:c.A669G:p.R223R,RAB3IL1:NM_013401:exon6:c.A747G:p.R249R exonic ENSG00000167994 NA synonymous SNV ENSG00000167994:ENST00000301773:exon5:c.A669G:p.R223R,ENSG00000167994:ENST00000394836:exon6:c.A747G:p.R249R Score=539;Name=lod=206 NA 11q12.2 Score=924;Name=V$STAT5A_02 Name=TAF1,HEY1 Name=16 NA rs174474 0.27 0.27 0.238 0.313698 0.2336 0.3353 0.2003 0.27 0.5133 0.24 0.32 0.25 0.26 0.3135 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.630282 1.630282 NA 0.225634 0.278383 NA 0.246 NA 8.8939326 763 5 1240757 1240757 C G exonic SLC6A18 NA stopgain SLC6A18:NM_182632:exon7:c.C957G:p.Y319X exonic ENSG00000164363 NA stopgain ENSG00000164363:ENST00000324642:exon7:c.C957G:p.Y319X NA NA 5p15.33 NA NA NA NA rs7447815 0.34 0.34 0.329 0.348642 0.3688 0.2351 0.3775 0.3638 0.4039 0.37 0.24 0.37 0.38 0.3645 0.38 1 T . . . . 0.280 N 0.000 P . . . . . . . . . 2.387 13.94 -3.14 -0.907 -3.005 13.214 2.386926 2.386926 0.12 0.372791 0.348162 NA 0.333 NA 8.893909 763 22 29957570 29957570 G A exonic NIPSNAP1 NA synonymous SNV NIPSNAP1:NM_001202502:exon6:c.C444T:p.L148L,NIPSNAP1:NM_003634:exon6:c.C504T:p.L168L exonic ENSG00000184117 NA synonymous SNV ENSG00000184117:ENST00000216121:exon6:c.C504T:p.L168L,ENSG00000184117:ENST00000437094:exon6:c.C99T:p.L33L Score=533;Name=lod=195 NA 22q12.2 NA NA NA NA rs1058642 0.22 0.22 0.23 0.181909 0.2744 0.1468 0.1571 0.2133 0.0982 0.27 0.16 0.2 0.24 0.2252 0.27 . . . . . . . . 0.000 P . . . . . . . . . 0.677 7.62 -9.67 -2.274 -0.643 9.016 0.676691 NA NA 0.273372 0.21675 NA 0.254 NA 8.8936946 763 1 241929542 241929542 G A exonic WDR64 NA nonsynonymous SNV WDR64:NM_144625:exon15:c.G1940A:p.R647Q exonic ENSG00000162843 NA nonsynonymous SNV ENSG00000162843:ENST00000472717:exon5:c.G617A:p.R206Q,ENSG00000162843:ENST00000414635:exon10:c.G1253A:p.R418Q,ENSG00000162843:ENST00000366552:exon15:c.G1940A:p.R647Q,ENSG00000162843:ENST00000437684:exon15:c.G1940A:p.R647Q Score=444;Name=lod=85 NA 1q43 NA NA NA NA rs12095445 0.12 0.12 0.113 0.110024 0.1541 0.003 0.1225 0.2194 0.0184 0.14 0.0035 0.14 0.21 0.1235 0.22 0.4 T 0.088 B 0.023 B 0.897 N 1.000 P 0.345 N 1.06 T -0.993 T 0.000 T 0.161 0.616 7.315 0.735 -0.072 2.437 3.756 0.615699 NA 0.18 0.163721 0.216069 NA 0.217 NA 8.8920124 763 19 872089 872089 A G exonic MED16 NA synonymous SNV MED16:NM_005481:exon12:c.T1935C:p.F645F exonic ENSG00000175221 NA synonymous SNV ENSG00000175221:ENST00000589119:exon11:c.T1935C:p.F645F,ENSG00000175221:ENST00000312090:exon12:c.T1935C:p.F645F,ENSG00000175221:ENST00000325464:exon12:c.T1935C:p.F645F,ENSG00000175221:ENST00000395808:exon12:c.T1935C:p.F645F Score=478;Name=lod=117 NA 19p13.3 Score=826;Name=V$AP4_01 Name=GR Name=20 NA rs72984031 0.17 0.17 0.182 0.176717 0.2793 0.0089 0.1412 0.2133 0.2198 0.27 0.01 0.18 0.2 0.2225 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17589 NA NA 0.273142 0.237206 NA 0.145 NA 8.8917246 763 4 178262784 178262784 A G exonic NEIL3 NA nonsynonymous SNV NEIL3:NM_018248:exon6:c.A857G:p.H286R exonic ENSG00000109674 NA nonsynonymous SNV ENSG00000109674:ENST00000264596:exon6:c.A857G:p.H286R NA NA 4q34.3 Score=751;Name=V$SRF_01 NA NA NA rs34193982 0.1 0.1 0.099 0.091254 0.161 0.1012 0.0533 0.0053 0.1524 0.16 0.11 0.09 0.01 0.1284 0.16 0.58 T 0.0 B 0.001 B 0.634 N 1.000 P 1.7 L 3.83 T -0.900 T 0.000 T 0.033 0.458 6.487 -4.55 -0.480 0.245 0.015 0.458106 NA 0.38 0.153953 0.026782 NA 0.116 NA 8.8899804 763 3 109052732 109052732 T C exonic DPPA4 NA nonsynonymous SNV DPPA4:NM_018189:exon2:c.A163G:p.I55V exonic ENSG00000121570 NA nonsynonymous SNV ENSG00000121570:ENST00000335658:exon2:c.A163G:p.I55V,ENSG00000121570:ENST00000477303:exon2:c.A7G:p.I3V NA NA 3q13.13 NA NA NA NA rs3762648 0.49 0.49 0.474 0.484026 0.4831 0.751 0.4697 0.2231 0.5726 0.47 0.73 0.46 0.27 0.4934 0.73 . . 0.0 B 0.001 B 0.001 N 1.000 P -0.895 N 2.01 T -1.015 T 0.000 T 0.065 -1.754 0.01 -6.02 -1.950 -1.085 6.703 -1.753635 NA 0.56 0.467791 0.250567 NA 0.297 NA 8.8890424 763 7 64389089 64389089 A C exonic ZNF273 NA nonsynonymous SNV ZNF273:NM_021148:exon4:c.A1383C:p.E461D exonic ENSG00000198039 NA nonsynonymous SNV ENSG00000198039:ENST00000476120:exon4:c.A1383C:p.E461D,ENSG00000198039:ENST00000319636:exon5:c.A1188C:p.E396D NA NA 7q11.21 NA Name=KAP1,SETDB1 NA NA rs2017252 0.46 0.46 0.433 0.455871 0.4722 0.4911 0.5101 0.3502 0.5072 0.46 0.51 0.5 0.36 0.4858 0.51 0.14 T 0.19 B 0.327 B . . 1.000 P 0.38 N 2.31 T -0.907 T 0.000 T 0.039 1.965 12.53 -2.32 0.175 -5.647 1.937 1.964849 1.964849 0.1 0.486508 0.385052 NA 0.478 NA 8.8888254 763 17 72927123 72927123 G T exonic OTOP2 NA nonsynonymous SNV OTOP2:NM_178160:exon6:c.G1393T:p.G465W exonic ENSG00000183034 NA nonsynonymous SNV ENSG00000183034:ENST00000580223:exon5:c.G1393T:p.G465W,ENSG00000183034:ENST00000331427:exon6:c.G1393T:p.G465W NA NA 17q25.1 NA NA NA NA rs6501741 0.54 0.54 0.531 0.544728 0.663 0.5645 0.6571 0.2489 0.7229 0.69 0.57 0.61 0.22 0.639 0.69 0.03 D 0.993 D 0.663 P 0.661 N 1.000 P 0.55 N 2.79 T -0.966 T 0.000 T 0.167 0.369 6.004 -2.23 -0.515 -0.038 7.211 0.369093 NA 0 0.643605 0.322742 NA 0.442 NA 8.8877284 763 16 1250389 1250389 A G exonic CACNA1H NA nonsynonymous SNV CACNA1H:NM_001005407:exon7:c.A937G:p.M313V,CACNA1H:NM_021098:exon7:c.A937G:p.M313V exonic ENSG00000196557 NA nonsynonymous SNV ENSG00000196557:ENST00000565831:exon6:c.A937G:p.M313V,ENSG00000196557:ENST00000348261:exon7:c.A937G:p.M313V,ENSG00000196557:ENST00000358590:exon7:c.A937G:p.M313V Score=441;Name=lod=83 NA 16p13.3 NA NA NA NA rs36117280 0.1 0.1 0.062 0.102636 0.1392 0.0625 0.0965 0.0651 0.1616 0.15 0.05 0.1 0.07 0.1632 0.15 0.54 T 0.0 B 0.0 B 0.001 N 1.000 P -1.23 N -3.76 D -0.621 T 0.006 T 0.128 -0.862 0.522 1.31 -0.083 0.078 5.210 -0.861845 NA 0.57 0.144316 0.070513 NA 0.159 NA 8.8866174 763 17 39305956 39305956 G A exonic KRTAP4-5 NA nonsynonymous SNV KRTAP4-5:NM_033188:exon1:c.C64T:p.R22C exonic ENSG00000198271 NA nonsynonymous SNV ENSG00000198271:ENST00000343246:exon1:c.C64T:p.R22C NA NA 17q21.2 Score=884;Name=V$E47_01 Name=NRSF NA NA rs1497383 0.44 0.44 0.38 0.441094 0.4861 0.3532 0.5144 0.3699 0.5297 0.48 0.38 0.52 0.38 0.4788 0.52 0.09 T 0.06 B 0.013 B 0.885 U 0.988 P 2.205 M 4.88 T -0.978 T 0.000 T 0.117 0.059 4.323 1.46 0.421 -0.126 2.132 0.059209 NA NA 0.481831 0.376476 NA 0.225 NA 8.8866024 764 1 12921333 12921333 G A exonic PRAMEF2 NA nonsynonymous SNV PRAMEF2:NM_023014:exon4:c.G1124A:p.C375Y exonic ENSG00000120952 NA nonsynonymous SNV ENSG00000120952:ENST00000240189:exon4:c.G1124A:p.C375Y NA NA 1p36.21 NA NA NA NA rs56145411 0.16 0.16 0.122 0.271366 0.2157 0.2857 0.1844 0.3858 0.2209 0.13 0.14 0.17 0.23 0.2328 0.23 0.01 D 0.002 B 0.102 B 0.433 N 1.000 P 1.04 L 3.01 T -0.914 T 0.000 T 0.189 -0.176 3.142 -0.682 -2.179 -0.801 5.122 -0.176022 NA 0.01 NA NA NA NA NA 8.8848334 764 14 77843814 77843814 T C exonic SAMD15 NA nonsynonymous SNV SAMD15:NM_001010860:exon1:c.T53C:p.L18P exonic ENSG00000100583 NA nonsynonymous SNV ENSG00000100583:ENST00000216471:exon1:c.T53C:p.L18P NA NA 14q24.3 NA Name=YY1,RFX5_(N-494),ERalpha_a,Sin3Ak-20,GATA-1,GABP,Mxi1_(bHLH),YY1_(C-20),Max,EBF1_(C-8) Name=136 NA rs11844594 0.48 0.48 0.491 0.513179 0.497 0.0893 0.4841 0.888 0.4806 0.49 0.08 0.54 0.89 0.4829 0.89 0.33 T 0.0 B 0.0 B 0.959 N 1.000 P 0.6 N 1.21 T -1.024 T 0.000 T 0.071 1.135 9.626 -1.74 -1.173 -0.605 5.426 1.135248 NA 0.08 0.468605 0.822742 ID=COSM147819;OCCURENCE=1(stomach) 0.609 NA 8.8848284 764 8 17927327 17927327 T C exonic ASAH1 NA nonsynonymous SNV ASAH1:NM_004315:exon4:c.A325G:p.I109V,ASAH1:NM_177924:exon4:c.A277G:p.I93V exonic ENSG00000104763 NA nonsynonymous SNV ENSG00000104763:ENST00000262097:exon4:c.A277G:p.I93V,ENSG00000104763:ENST00000381733:exon4:c.A325G:p.I109V,ENSG00000104763:ENST00000417108:exon4:c.A82G:p.I28V,ENSG00000104763:ENST00000520781:exon4:c.A277G:p.I93V NA NA 8p22 Score=959;Name=V$NFAT_Q6 NA NA NA rs1049874 0.42 0.42 0.379 0.420527 0.4771 0.372 0.5735 0.2496 0.5348 0.47 0.36 0.6 0.3 0.4796 0.6 0.61 T 0.0 B 0.001 B 0.566 N 0.064 P 0.4 N 0.96 T -1.011 T 0.000 T 0.006 -1.179 0.084 -10.5 -3.229 -1.936 4.180 -1.179147 NA 0.88 0.491859 0.284514 NA 0.326 NA 8.8847744 764 12 55725690 55725690 C T exonic OR6C3 NA nonsynonymous SNV OR6C3:NM_054104:exon1:c.C206T:p.S69L exonic ENSG00000205329 NA nonsynonymous SNV ENSG00000205329:ENST00000379667:exon1:c.C206T:p.S69L NA NA 12q13.2 NA NA NA NA rs4318060 0.12 0.12 0.127 0.107827 0.1571 NA 0.0951 0.1997 0.0532 0.16 NA 0.1 0.2 0.1298 0.2 0.15 T 0.0 B 0.004 B 0.112 N 1.000 P 1.14 L 2.16 T -1.055 T 0.000 T 0.41 1.69 11.61 4.82 2.665 0.936 14.117 1.690093 1.690093 0.2 0.164419 0.200182 NA 0.159 NA 8.8820144 764 7 141537735 141537735 T G exonic PRSS37 NA nonsynonymous SNV PRSS37:NM_001008270:exon3:c.A355C:p.T119P,PRSS37:NM_001171951:exon3:c.A355C:p.T119P exonic ENSG00000165076 NA nonsynonymous SNV ENSG00000165076:ENST00000350549:exon3:c.A355C:p.T119P,ENSG00000165076:ENST00000438520:exon4:c.A355C:p.T119P NA NA 7q34 NA NA NA NA rs12669721 0.54 0.54 0.534 0.529353 0.4642 0.755 0.5764 0.3464 0.5777 0.46 0.76 0.56 0.4 0.5083 0.76 0.7 T 0.0 B 0.0 B 0.828 N 1.000 P -1.38 N 1.01 T -0.982 T 0.000 T 0.11 -0.893 0.453 -6.72 -1.543 -1.125 4.183 -0.892662 NA 0.73 0.481279 0.375624 ID=COSM1179611;OCCURENCE=1(prostate) 0.486 NA 8.8795544 764 6 90402482 90402482 G A exonic MDN1 NA nonsynonymous SNV MDN1:NM_014611:exon63:c.C10267T:p.H3423Y exonic ENSG00000112159 NA nonsynonymous SNV ENSG00000112159:ENST00000369393:exon63:c.C10267T:p.H3423Y,ENSG00000112159:ENST00000428876:exon63:c.C10267T:p.H3423Y NA NA 6q15 NA NA NA NA rs9294445 0.66 0.66 0.652 0.604433 0.4602 0.9077 0.6988 0.5998 0.3793 0.48 0.92 0.67 0.62 0.5272 0.92 0.39 T 0.001 B 0.001 B 0.005 N 1.000 P 1.935 M 4.09 T -0.917 T 0.004 T 0.035 -1.244 0.053 3.31 0.280 1.635 7.674 -1.24355 NA 0.13 0.466977 0.60236 NA 0.5 NA 8.8789564 764 5 145442133 145442133 G A exonic SH3RF2 NA nonsynonymous SNV SH3RF2:NM_152550:exon10:c.G2059A:p.V687I exonic ENSG00000156463 NA nonsynonymous SNV ENSG00000156463:ENST00000511217:exon9:c.G2059A:p.V687I,ENSG00000156463:ENST00000359120:exon10:c.G2059A:p.V687I NA NA 5q32 NA NA NA NA rs11435 0.16 0.16 0.115 0.173922 0.1342 0.3036 0.2233 0.0106 0.2669 0.14 0.28 0.19 0.02 0.1746 0.28 0.69 T 0.001 B 0.001 B 0.819 N 1.000 P 0.345 N 2.31 T -0.943 T 0.000 T 0.034 -0.472 1.821 -11.0 -1.851 -1.931 9.677 -0.472314 NA 0.97 0.146395 0.02837 NA 0.087 NA 8.8781384 764 18 43319519 43319519 G A exonic SLC14A1 NA nonsynonymous SNV SLC14A1:NM_001146037:exon7:c.G1006A:p.D336N,SLC14A1:NM_015865:exon8:c.G838A:p.D280N,SLC14A1:NM_001128588:exon9:c.G1006A:p.D336N,SLC14A1:NM_001146036:exon9:c.G838A:p.D280N exonic ENSG00000141469 NA nonsynonymous SNV ENSG00000141469:ENST00000589322:exon5:c.G442A:p.D148N,ENSG00000141469:ENST00000535474:exon6:c.G442A:p.D148N,ENSG00000141469:ENST00000586142:exon6:c.G838A:p.D280N,ENSG00000141469:ENST00000402943:exon7:c.G523A:p.D175N,ENSG00000141469:ENST00000436407:exon7:c.G1006A:p.D336N,ENSG00000141469:ENST00000502059:exon7:c.G514A:p.D172N,ENSG00000141469:ENST00000321925:exon8:c.G838A:p.D280N,ENSG00000141469:ENST00000415427:exon9:c.G1006A:p.D336N NA NA 18q12.3 NA NA NA NA rs1058396 0.45 0.45 0.421 0.410942 0.501 0.5258 0.5187 0.2277 0.3712 0.5 0.52 0.51 0.25 0.4695 0.52 0.5 T 0.002 B 0.008 B 0.026 N 0.010 P 0.385 N 0.74 T -0.951 T 0.000 T 0.106 0.972 8.967 -7.56 -1.283 0.700 13.088 0.971992 NA 0.52 0.485698 0.26532 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=KIDD_BLOOD_POLYMORPHISM_Jk(a)/Jk(b);CLNREVSTAT=single;CLNACC=RCV000019290.1;CLNDSDB=.;CLNDSDBID=. 8.8771354 765 17 80059690 80059690 G A exonic CCDC57 NA synonymous SNV CCDC57:NM_198082:exon17:c.C2616T:p.G872G exonic ENSG00000176155 NA nonsynonymous SNV ENSG00000176155:ENST00000583053:exon1:c.C37T:p.H13Y NA NA 17q25.3 NA Name=Ini1 Name=8 NA rs61735692 0.02 0.02 0.011 0.013778 0.0398 NA 0.0288 0.0038 0.0041 0.04 NA 0.02 0.01 0.0376 0.05 . . . . . . . . 1.000 N . . . . -1.042 T 0.011 T . -0.154 3.247 0.444 0.392 0.849 4.251 -0.154002 NA NA 0.050024 0.011214 NA 0.014 NA 8.872576 765 19 4294807 4294807 G A exonic TMIGD2 NA nonsynonymous SNV TMIGD2:NM_001169126:exon3:c.C413T:p.P138L,TMIGD2:NM_144615:exon3:c.C413T:p.P138L exonic ENSG00000167664 NA nonsynonymous SNV ENSG00000167664:ENST00000600114:exon2:c.C53T:p.P18L,ENSG00000167664:ENST00000301272:exon3:c.C413T:p.P138L,ENSG00000167664:ENST00000595645:exon3:c.C413T:p.P138L NA NA 19p13.3 NA NA NA NA rs78320454 0.1 0.1 0.091 0.110823 0.1561 0.0754 0.1513 0.0068 0.2127 0.14 0.1 0.16 0.01 0.1479 0.16 0.24 T 0.032 B 0.015 B . . 1.000 P 0.55 N 1.62 T -0.996 T 0.000 T 0.021 0.332 5.801 -4.98 -1.024 -0.461 0.988 0.332096 NA 0.34 0.156977 0.033818 NA 0.051 NA 8.8723564 765 14 20215989 20215989 A G exonic OR4Q3 NA nonsynonymous SNV OR4Q3:NM_172194:exon1:c.A403G:p.T135A exonic ENSG00000182652 NA nonsynonymous SNV ENSG00000182652:ENST00000331723:exon1:c.A403G:p.T135A NA NA 14q11.2 NA NA NA NA rs17210864 0.09 0.09 0.065 0.109625 0.1481 0.0079 0.0764 0.0885 0.227 0.16 0.01 0.09 0.06 0.1463 0.17 0.04 D 0.003 B 0.005 B 0.105 U 0.999 N 0.735 N 7.59 T -0.871 T 0.000 T 0.124 0.064 4.346 3.2 0.707 -0.357 4.536 0.063601 NA 0.08 0.167093 0.107808 NA 0.08 NA 8.8718404 765 2 110373197 110373197 G A exonic SOWAHC NA synonymous SNV SOWAHC:NM_023016:exon1:c.G1131A:p.K377K exonic ENSG00000198142 NA synonymous SNV ENSG00000198142:ENST00000356454:exon1:c.G1131A:p.K377K Score=278;Name=lod=18 NA 2q13 Score=798;Name=V$E2F_01 Name=USF-1,Max,Pol2 Name=43 NA rs1560884 0.33 0.33 0.273 0.324081 0.2575 0.3929 0.4697 0.2526 0.3149 0.26 0.4 0.44 0.27 0.2913 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785064 NA NA 0.246628 0.273718 NA 0.232 NA 8.8712386 765 6 32362741 32362741 C T exonic BTNL2 NA nonsynonymous SNV BTNL2:NM_019602:exon6:c.G1140A:p.M380I exonic ENSG00000204290 NA nonsynonymous SNV ENSG00000204290:ENST00000414363:exon4:c.G510A:p.M170I,ENSG00000204290:ENST00000540315:exon4:c.G510A:p.M170I,ENSG00000204290:ENST00000544175:exon5:c.G309A:p.M103I,ENSG00000204290:ENST00000374993:exon6:c.G1140A:p.M380I,ENSG00000204290:ENST00000374995:exon6:c.G858A:p.M286I,ENSG00000204290:ENST00000454136:exon6:c.G1140A:p.M380I Score=387;Name=lod=50 NA 6p21.32 NA NA NA NA rs28362677 0.16 0.16 0.154 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 0.1555 0.18 0.14 T 0.002 B 0.006 B 0.958 N 0.000 P 0.46 N -0.91 T -1.057 T 0.105 T 0.047 -0.108 3.471 3.3 0.756 -0.068 6.971 -0.107846 NA 0.35 0.144302 0.125057 NA 0.196 NA 8.8705314 765 6 32362745 32362745 G A exonic BTNL2 NA nonsynonymous SNV BTNL2:NM_019602:exon6:c.C1136T:p.P379L exonic ENSG00000204290 NA nonsynonymous SNV ENSG00000204290:ENST00000414363:exon4:c.C506T:p.P169L,ENSG00000204290:ENST00000540315:exon4:c.C506T:p.P169L,ENSG00000204290:ENST00000544175:exon5:c.C305T:p.P102L,ENSG00000204290:ENST00000374993:exon6:c.C1136T:p.P379L,ENSG00000204290:ENST00000374995:exon6:c.C854T:p.P285L,ENSG00000204290:ENST00000454136:exon6:c.C1136T:p.P379L NA NA 6p21.32 NA NA NA NA rs28362678 0.16 0.16 0.158 0.164137 0.163 0.1597 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 0.1556 0.18 1 T 0.0 B 0.0 B 0.003 N 1.000 P -3.375 N 4.45 T -1.035 T 0.000 T 0.099 -1.382 0.025 2.61 0.413 3.176 4.434 -1.381882 NA 1 0.144302 0.125057 NA 0.196 NA 8.8704314 765 5 149826526 149826526 C T exonic RPS14 NA synonymous SNV RPS14:NM_001025070:exon3:c.G150A:p.K50K,RPS14:NM_001025071:exon3:c.G150A:p.K50K,RPS14:NM_005617:exon3:c.G150A:p.K50K exonic ENSG00000164587 NA synonymous SNV ENSG00000164587:ENST00000518139:exon2:c.G150A:p.K50K,ENSG00000164587:ENST00000312037:exon3:c.G150A:p.K50K,ENSG00000164587:ENST00000401695:exon3:c.G150A:p.K50K,ENSG00000164587:ENST00000407193:exon3:c.G150A:p.K50K,ENSG00000164587:ENST00000521466:exon3:c.G150A:p.K50K Score=488;Name=lod=128 NA 5q33.1 Score=812;Name=V$RFX1_02 Name=Pol2-4H8,Pol2(phosphoS2),Pol2,HEY1 Name=4 NA rs4841 0.24 0.24 0.237 0.268371 0.2575 0.2669 0.2161 0.2027 0.407 0.26 0.28 0.23 0.2 0.2726 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.730692 1.730692 NA 0.266628 0.214934 NA 0.341 NA 8.8699386 765 19 55019261 55019261 C T exonic LAIR2 NA stopgain LAIR2:NM_002288:exon3:c.C226T:p.R76X,LAIR2:NM_021270:exon3:c.C226T:p.R76X exonic ENSG00000167618 NA stopgain ENSG00000167618:ENST00000301202:exon3:c.C226T:p.R76X,ENSG00000167618:ENST00000351841:exon3:c.C226T:p.R76X,ENSG00000167618:ENST00000412608:exon3:c.C208T:p.R70X NA NA 19q13.42 NA NA NA NA rs61737751 0.03 0.03 0.018 0.0301518 0.0527 0.0079 0.049 0.0023 0.0542 0.05 0.01 0.07 NA 0.0336 0.07 0.13 T . . . . 0.000 N 1.000 A . . . . . . . . . 0.837 8.377 0.536 0.041 -0.940 4.916 0.836584 NA 0.39 0.044884 0.01044 NA NA NA 8.868816 765 11 5344592 5344592 A C exonic OR51B2 NA nonsynonymous SNV OR51B2:NM_033180:exon1:c.T936G:p.S312R exonic ENSG00000184881 NA nonsynonymous SNV ENSG00000184881:ENST00000328813:exon1:c.T936G:p.S312R NA NA 11p15.4 NA NA NA NA rs11036814 0.12 0.12 0.106 0.0980431 0.165 0.123 0.1182 0.0113 0.1063 0.16 0.16 0.12 0.02 0.1425 0.16 0 D 0.004 B 0.003 B 0.635 U 1.000 P 0 N 9.79 T -1.097 T 0.000 T 0.074 1.645 11.46 1.78 1.521 0.153 5.381 1.645446 1.645446 0.01 0.157435 0.040436 ID=COSM147118;OCCURENCE=1(stomach) 0.13 NA 8.8683984 766 2 26798893 26798893 A T exonic C2orf70 NA nonsynonymous SNV C2orf70:NM_001105519:exon2:c.A198T:p.Q66H exonic ENSG00000173557 NA nonsynonymous SNV ENSG00000173557:ENST00000329615:exon2:c.A198T:p.Q66H,ENSG00000173557:ENST00000409392:exon3:c.A160T:p.R54W NA NA 2p23.3 NA NA NA NA rs13002673 0.33 0.33 0.291 0.334465 0.336 0.623 0.2262 0.0953 0.4356 0.34 0.6 0.2 0.11 0.3373 0.6 0.04 D 0.728 P 0.217 B 0.189 N 1.000 P 0 N 0.79 T -0.958 T 0.000 T 0.044 0.4 6.171 -1.1 -0.206 -1.156 4.182 0.399809 NA 0.05 0.295885 0.12804 NA 0.312 NA 8.8641484 766 1 67288045 67288045 C T exonic WDR78 NA nonsynonymous SNV WDR78:NM_024763:exon16:c.G2495A:p.R832Q exonic ENSG00000152763 NA nonsynonymous SNV ENSG00000152763:ENST00000464352:exon11:c.G1694A:p.R565Q,ENSG00000152763:ENST00000431318:exon15:c.G1634A:p.R545Q,ENSG00000152763:ENST00000371026:exon16:c.G2495A:p.R832Q Score=358;Name=lod=38 NA 1p31.3 NA NA NA NA rs482082 0.54 0.54 0.549 0.514776 0.4761 0.6419 0.5447 0.5537 0.3497 0.46 0.67 0.5 0.56 0.5009 0.67 0.46 T 0.005 B 0.003 B 0.089 N 0.000 P 1.355 L 0.96 T -1.057 T 0.031 T 0.076 0.256 5.386 2.34 0.728 1.551 6.452 0.256417 NA 0.17 0.492209 0.562869 NA 0.529 NA 8.8641244 766 19 46269313 46269313 G C exonic SIX5 NA nonsynonymous SNV SIX5:NM_175875:exon3:c.C1666G:p.L556V exonic ENSG00000177045 NA nonsynonymous SNV ENSG00000177045:ENST00000317578:exon3:c.C1666G:p.L556V NA NA 19q13.32 Score=766;Name=V$MIF1_01 NA NA NA rs2014377 0.89 0.89 0.871 0.903954 0.7913 0.9226 0.8977 0.9924 0.8855 0.8 0.92 0.91 0.99 0.854 0.99 1 T 0.0 B 0.0 B 0.851 N 1.000 P -0.345 N -2.63 D -0.963 T 0.000 T 0.105 -1.194 0.075 2.09 0.490 1.156 7.236 -1.194238 NA 1 0.824029 0.966833 NA 0.877 NA 8.8640044 766 3 57882601 57882601 C T exonic SLMAP NA synonymous SNV SLMAP:NM_007159:exon14:c.C1341T:p.D447D exonic ENSG00000163681 NA synonymous SNV ENSG00000163681:ENST00000449503:exon13:c.C1278T:p.D426D,ENSG00000163681:ENST00000295952:exon14:c.C1341T:p.D447D,ENSG00000163681:ENST00000295951:exon15:c.C1341T:p.D447D,ENSG00000163681:ENST00000383718:exon15:c.C1380T:p.D460D,ENSG00000163681:ENST00000428312:exon15:c.C1392T:p.D464D Score=567;Name=lod=270 NA 3p14.3 NA NA Name=2 NA rs17058639 0.31 0.31 0.295 0.299521 0.2654 0.4752 0.3429 0.1218 0.363 0.28 0.49 0.34 0.13 0.2959 0.49 . . . . . . . . 0.000 P . . . . -0.901 T 0.000 T . 1.873 12.22 2.48 0.191 0.831 9.569 1.873458 1.873458 NA 0.241977 0.150023 NA 0.312 NA 8.8633896 766 19 42213872 42213872 T C exonic CEACAM5 NA nonsynonymous SNV CEACAM5:NM_004363:exon2:c.T338C:p.I113T exonic ENSG00000105388,ENSG00000267881 NA nonsynonymous SNV ENSG00000105388:ENST00000221992:exon2:c.T338C:p.I113T,ENSG00000105388:ENST00000398599:exon2:c.T338C:p.I113T,ENSG00000105388:ENST00000405816:exon2:c.T338C:p.I113T,ENSG00000267881:ENST00000598976:exon2:c.T338C:p.I113T NA NA 19q13.2 NA NA NA NA rs35091611 0.12 0.12 0.106 0.129593 0.1958 NA 0.0865 0.2799 0.0225 0.17 NA 0.09 0.2 0.1374 0.23 1 T 0.024 B 0.013 B . . 1.000 P -3.95 N 0.04 T -0.979 T 0.000 T 0.019 -2.111 0.006 -6.19 -1.023 -0.653 2.196 -2.111474 NA 1 0.136977 0.231729 NA 0.21 NA 8.8631564 766 4 104013796 104013796 T C exonic BDH2 NA nonsynonymous SNV BDH2:NM_020139:exon4:c.A209G:p.N70S exonic ENSG00000164039 NA nonsynonymous SNV ENSG00000164039:ENST00000296424:exon4:c.A209G:p.N70S,ENSG00000164039:ENST00000511354:exon4:c.A209G:p.N70S,ENSG00000164039:ENST00000504285:exon5:c.A209G:p.N70S,ENSG00000164039:ENST00000509245:exon5:c.A209G:p.N70S Score=317;Name=lod=26 NA 4q24 NA NA NA NA rs1054707 0.13 0.13 0.12 0.158347 0.1501 0.1548 0.1772 0.0492 0.3047 0.15 0.14 0.17 0.05 0.1623 0.17 0.59 T 0.0 B 0.0 B 0.103 N 0.999 P -0.72 N 2.0 T -1.062 T 0.001 T 0.113 0.141 4.761 -2.62 -0.662 0.038 6.051 0.141483 NA 0.54 0.15814 0.066273 NA 0.145 NA 8.8627934 766 20 278806 278806 C T exonic ZCCHC3 NA synonymous SNV ZCCHC3:NM_033089:exon1:c.C579T:p.S193S exonic ENSG00000177764 NA synonymous SNV ENSG00000177764:ENST00000382352:exon1:c.C579T:p.S193S Score=532;Name=lod=193 NA 20p13 Score=860;Name=V$ZID_01 Name=Pol2,NRSF,Pol2(phosphoS2),HEY1,Sin3Ak-20 Name=147 NA rs1057189 0.22 0.22 0.209 0.170327 0.2694 0.3294 0.1383 0.0098 0.1442 0.29 0.35 0.16 0.01 0.2523 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.363879 1.363879 NA 0.28227 0.046042 NA 0.123 NA 8.8626966 766 14 94088587 94088587 G A exonic UNC79 NA nonsynonymous SNV UNC79:NM_020818:exon30:c.G4477A:p.V1493I exonic ENSG00000133958 NA nonsynonymous SNV ENSG00000133958:ENST00000256339:exon30:c.G4477A:p.V1493I,ENSG00000133958:ENST00000393151:exon30:c.G5008A:p.V1670I,ENSG00000133958:ENST00000555664:exon30:c.G5008A:p.V1670I,ENSG00000133958:ENST00000553484:exon31:c.G5074A:p.V1692I NA NA 14q32.12 Score=730;Name=V$PAX4_04 NA NA NA rs4905081 0.39 0.39 0.338 0.371006 0.4821 0.38 0.5634 0.0915 0.4888 0.48 0.39 0.55 0.11 0.4734 0.55 0.58 T 0.0 B 0.001 B 0.802 N 1.000 P 0.345 N 2.27 T -0.922 T 0.000 T 0.049 -2.27 0.004 -7.75 -1.468 0.115 8.034 -2.269817 NA 0.68 0.515465 0.167726 NA 0.413 NA 8.8623684 766 2 219266423 219266423 C A exonic CTDSP1 NA synonymous SNV CTDSP1:NM_001206878:exon2:c.C204A:p.G68G,CTDSP1:NM_021198:exon2:c.C204A:p.G68G,CTDSP1:NM_182642:exon2:c.C204A:p.G68G exonic ENSG00000144579 NA synonymous SNV ENSG00000144579:ENST00000273062:exon2:c.C204A:p.G68G,ENSG00000144579:ENST00000443891:exon2:c.C204A:p.G68G NA NA 2q35 Score=738;Name=V$HOX13_01 NA NA NA rs2227251 0.17 0.17 0.172 0.16853 0.2753 0.0714 0.232 0.0734 0.2423 0.26 0.09 0.23 0.08 0.2575 0.27 . . . . . . . . 0.000 P . . . . -1.089 T 0.000 T . 0.752 7.987 -10.2 -3.228 -1.017 6.494 0.752419 NA NA 0.271512 0.093509 NA 0.217 NA 8.8623546 766 5 156898690 156898690 A G exonic NIPAL4 NA nonsynonymous SNV NIPAL4:NM_001172292:exon4:c.A580G:p.R194G,NIPAL4:NM_001099287:exon5:c.A637G:p.R213G exonic ENSG00000172548 NA nonsynonymous SNV ENSG00000172548:ENST00000435489:exon4:c.A580G:p.R194G,ENSG00000172548:ENST00000311946:exon5:c.A637G:p.R213G Score=511;Name=lod=159 NA 5q33.3 NA NA NA NA rs6860507 0.52 0.52 0.51 0.504593 0.4712 0.7232 0.4726 0.4334 0.4325 0.48 0.71 0.46 0.41 0.5347 0.71 0.61 T 0.0 B 0.0 B 0.000 N 0.000 P -0.84 N 0.16 T -0.962 T 0.000 T 0.049 0.267 5.444 4.78 0.765 1.582 12.451 0.267117 NA 0.54 0.465332 0.416503 NA 0.507 NA 8.8621014 766 2 73679866 73679866 T C exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon8:c.T6209C:p.I2070T exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000423048:exon1:c.T1043C:p.I348T,ENSG00000116127:ENST00000409009:exon7:c.T6083C:p.I2028T,ENSG00000116127:ENST00000264448:exon8:c.T6209C:p.I2070T,ENSG00000116127:ENST00000377715:exon8:c.T6209C:p.I2070T NA NA 2p13.1 NA NA NA NA rs10496192 0.1 0.1 0.106 0.103634 0.161 0.004 0.1772 0.0787 0.1288 0.16 0.01 0.16 0.08 0.1432 0.17 0.22 T 0.043 B 0.028 B 0.322 N 1.000 P 1.24 L 2.99 T -1.004 T 0.000 T 0.101 -3.03 0.001 -5.09 -0.965 -0.190 2.743 -3.029968 NA 0 0.167283 0.080352 NA 0.138 NA 8.8618504 766 17 3632836 3632836 G A exonic ITGAE NA nonsynonymous SNV ITGAE:NM_002208:exon24:c.C2848T:p.R950W exonic ENSG00000083457 NA nonsynonymous SNV ENSG00000083457:ENST00000263087:exon24:c.C2848T:p.R950W NA NA 17p13.2 NA NA NA NA rs1716 0.23 0.23 0.244 0.265375 0.3221 0.2956 0.1599 0.0537 0.5368 0.33 0.3 0.18 0.05 0.3172 0.33 0.02 D 0.999 D 0.825 P . . 1.000 P 1.5 L 0.85 T -1.044 T 0.000 T 0.102 2.991 15.97 -0.312 0.007 -0.208 1.828 2.990592 2.990592 0.02 0.333837 0.094644 NA 0.275 NA 8.8601964 766 22 29913272 29913272 C T exonic THOC5 NA nonsynonymous SNV THOC5:NM_001002879:exon16:c.G1573A:p.V525I,THOC5:NM_003678:exon16:c.G1573A:p.V525I,THOC5:NM_001002877:exon17:c.G1573A:p.V525I,THOC5:NM_001002878:exon17:c.G1573A:p.V525I exonic ENSG00000100296 NA nonsynonymous SNV ENSG00000100296:ENST00000397871:exon16:c.G1573A:p.V525I,ENSG00000100296:ENST00000490103:exon16:c.G1573A:p.V525I,ENSG00000100296:ENST00000397872:exon17:c.G1573A:p.V525I,ENSG00000100296:ENST00000397873:exon17:c.G1573A:p.V525I NA NA 22q12.2 Score=747;Name=V$PPARG_02 NA NA NA rs737976 0.52 0.52 0.52 0.445687 0.5129 0.7242 0.379 0.3298 0.2935 0.52 0.73 0.41 0.37 0.462 0.73 1 T 0.0 B 0.0 B 0.025 N 1.000 P -0.55 N 1.9 T -1.008 T 0.000 T 0.045 -1.519 0.016 -2.49 -1.032 0.249 7.042 -1.518513 NA 1 0.502326 0.353155 NA 0.543 NA 8.8561074 766 11 6532519 6532519 C T exonic DNHD1 NA nonsynonymous SNV DNHD1:NM_173589:exon6:c.C1252T:p.H418Y,DNHD1:NM_144666:exon7:c.C1252T:p.H418Y exonic ENSG00000179532 NA nonsynonymous SNV ENSG00000179532:ENST00000527990:exon5:c.C1252T:p.H418Y,ENSG00000179532:ENST00000354685:exon6:c.C1252T:p.H418Y,ENSG00000179532:ENST00000254579:exon7:c.C1252T:p.H418Y NA NA 11p15.4 NA NA NA NA rs4758423 0.24 0.24 0.237 0.220447 0.3549 0.128 0.3199 0.1377 0.2188 0.34 0.15 0.33 0.13 0.2929 0.34 0.26 T 0.837 P 0.193 B 0.191 N 1.000 P 0.695 N 2.7 T -0.990 T 0.000 T 0.092 1.258 10.1 4.41 1.372 0.136 8.168 1.257615 1.257615 0.11 0.329493 0.166742 ID=COSM1179744,COSM1179745;OCCURENCE=1(prostate) 0.268 NA 8.8560404 767 6 51914956 51914956 G A exonic PKHD1 NA nonsynonymous SNV PKHD1:NM_138694:exon22:c.C2278T:p.R760C,PKHD1:NM_170724:exon22:c.C2278T:p.R760C exonic ENSG00000170927 NA nonsynonymous SNV ENSG00000170927:ENST00000340994:exon22:c.C2278T:p.R760C,ENSG00000170927:ENST00000371117:exon22:c.C2278T:p.R760C NA NA 6p12.2 NA NA NA NA rs9370096 0.41 0.41 0.348 0.355831 0.503 0.4048 0.6009 0.1097 0.3129 0.51 0.41 0.59 0.13 0.4652 0.59 0.19 T 0.013 B 0.004 B 0.102 N 0.007 P -0.57 N -2.06 D -1.013 T 0.120 T 0.081 2.23 13.42 -6.31 -0.738 -0.487 7.059 2.230413 2.230413 0.11 0.510233 0.151384 NA 0.471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082536.1;CLNDSDB=.;CLNDSDBID=. 8.8549004 767 12 103696182 103696182 T G exonic C12orf42 NA nonsynonymous SNV C12orf42:NM_001099336:exon6:c.A787C:p.S263R,C12orf42:NM_198521:exon6:c.A787C:p.S263R exonic ENSG00000179088 NA nonsynonymous SNV ENSG00000179088:ENST00000378113:exon6:c.A787C:p.S263R,ENSG00000179088:ENST00000548883:exon6:c.A787C:p.S263R,ENSG00000179088:ENST00000548048:exon9:c.A586C:p.S196R NA NA 12q23.2 NA NA Name=8 NA rs79387839 0.13 0.13 0.119 0.126198 0.17 0.1319 0.0965 0.0477 0.2025 0.17 0.15 0.1 0.06 0.1497 0.17 0.14 T 0.005 B 0.005 B 0.517 N 1.000 P 0.46 N 0.32 T -1.071 T 0.000 T 0.085 1.324 10.34 -3.12 -0.673 0.094 0.507 1.324188 1.324188 0.01 0.158779 0.071703 NA 0.116 NA 8.8548544 767 16 71610276 71610276 G A exonic TAT NA nonsynonymous SNV TAT:NM_000353:exon2:c.C43T:p.P15S exonic ENSG00000198650 NA nonsynonymous SNV ENSG00000198650:ENST00000355962:exon2:c.C43T:p.P15S NA NA 16q22.2 NA NA NA NA rs74344827 0.13 0.13 0.114 0.14357 0.163 0.0516 0.0836 0.1831 0.2076 0.18 0.06 0.1 0.15 0.1511 0.2 0.25 T 0.248 B 0.067 B 0.062 N 1.000 P 0.205 N -1.28 T -1.095 T 0.000 T 0.041 0.447 6.429 2.74 0.885 1.152 7.819 0.447277 NA 0.53 0.165116 0.196542 NA 0.109 NA 8.8541174 767 20 20033319 20033319 A G exonic CRNKL1 NA nonsynonymous SNV CRNKL1:NM_016652:exon2:c.T151C:p.F51L exonic ENSG00000101343 NA nonsynonymous SNV ENSG00000101343:ENST00000377327:exon2:c.T115C:p.F39L,ENSG00000101343:ENST00000377340:exon2:c.T151C:p.F51L,ENSG00000101343:ENST00000490910:exon2:c.T115C:p.F39L NA NA 20p11.23 NA Name=Max,CTCF,SREBP1,ETS1,Mxi1_(bHLH),Sin3Ak-20,HA-E2F1,KAP1,c-Fos Name=148 NA rs2273058 0.54 0.54 0.533 0.519968 0.492 0.7024 0.549 0.4425 0.4448 0.49 0.7 0.52 0.44 0.5166 0.7 0.44 T 0.009 B 0.003 B 0.000 N 1.000 P 0 N 1.56 T -0.945 T 0.000 T 0.04 1.697 11.63 0.073 -0.104 1.307 4.565 1.697423 1.697423 1 0.4732 0.439855 NA 0.514 NA 8.8515334 767 7 100607871 100607871 C T intergenic ACHE,MUC12 dist=114330;dist=5033 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000422757:exon4:c.C488T:p.A163V,ENSG00000169894:ENST00000319509:exon5:c.C2018T:p.A673V NA NA 7q22.1 NA NA NA NA rs6960868 NA NA 0.433 NA NA NA NA NA NA NA NA NA NA 0.4855 0.24 0.33 T 0.469 P 0.115 B . . . . 0.69 N 1.38 T -1.082 T 0.037 T 0.155 0.04 4.222 -5.92 -2.696 -2.266 1.671 0.040139 NA 0.27 NA NA NA 0.254 NA 8.8478334 767 19 8326866 8326866 C T exonic CERS4 NA nonsynonymous SNV CERS4:NM_024552:exon12:c.C1058T:p.A353V exonic ENSG00000090661 NA nonsynonymous SNV ENSG00000090661:ENST00000559336:exon10:c.C794T:p.A265V,ENSG00000090661:ENST00000559450:exon11:c.C1058T:p.A353V,ENSG00000090661:ENST00000251363:exon12:c.C1058T:p.A353V,ENSG00000090661:ENST00000558331:exon12:c.C905T:p.A302V NA NA 19p13.2 NA NA NA NA rs17160348 0.14 0.14 0.106 0.126597 0.161 0.0883 0.1772 0.1271 0.0941 0.17 0.07 0.19 0.16 0.1606 0.19 0.2 T 0.001 B 0.0 B 0.279 N 1.000 P 0.345 N 3.32 T -0.920 T 0.000 T 0.086 3.773 19.15 3.04 0.118 2.819 4.431 3.772612 3.772612 0.21 0.16407 0.133681 NA 0.101 NA 8.8476634 767 14 81744736 81744736 A G exonic STON2 NA nonsynonymous SNV STON2:NM_033104:exon5:c.T919C:p.S307P,STON2:NM_001256430:exon6:c.T919C:p.S307P exonic ENSG00000140022 NA nonsynonymous SNV ENSG00000140022:ENST00000267540:exon4:c.T919C:p.S307P,ENSG00000140022:ENST00000555447:exon6:c.T919C:p.S307P Score=313;Name=lod=25 NA 14q31.1 NA NA NA NA rs3813535 0.76 0.76 0.756 0.745008 0.8241 0.5397 0.7939 0.8411 0.7106 0.83 0.6 0.81 0.81 0.8101 0.85 1 T 0.0 B 0.0 B 0.002 N 0.999 P -1.78 N 1.63 T -0.960 T 0.000 T 0.195 -0.686 1.017 6.17 1.644 4.031 15.859 -0.686078 NA 1 0.852093 0.844757 NA 0.841 NA 8.8470404 767 12 96131895 96131895 A G exonic NTN4 NA nonsynonymous SNV NTN4:NM_021229:exon3:c.T613C:p.Y205H exonic ENSG00000074527 NA nonsynonymous SNV ENSG00000074527:ENST00000343702:exon3:c.T613C:p.Y205H,ENSG00000074527:ENST00000538383:exon3:c.T502C:p.Y168H,ENSG00000074527:ENST00000547980:exon3:c.T502C:p.Y168H,ENSG00000074527:ENST00000553059:exon3:c.T613C:p.Y205H,ENSG00000074527:ENST00000344911:exon4:c.T502C:p.Y168H NA NA 12q22 NA Name=SP1,HNF4A,TCF4,HNF4G_(SC-6558),HNF4A_(H-171) Name=8 NA rs17288108 0.09 0.09 0.073 0.0732827 0.1849 0.0238 0.0908 0.0038 0.091 0.19 0.01 0.1 0.002 0.1263 0.19 0.55 T 0.001 B 0.001 B 0.015 N 1.000 P -0.69 N -0.9 T -1.098 T 0.000 T 0.229 0.163 4.879 1.57 0.895 -0.014 4.696 0.163335 NA 0.54 0.175233 0.031094 NA 0.08 NA 8.8469004 768 17 47007963 47007963 C T exonic SNF8 NA synonymous SNV SNF8:NM_007241:exon8:c.G651A:p.L217L exonic ENSG00000159210 NA synonymous SNV ENSG00000159210:ENST00000290330:exon8:c.G648A:p.L216L,ENSG00000159210:ENST00000502492:exon8:c.G651A:p.L217L Score=635;Name=lod=510 NA 17q21.32 Score=862;Name=V$TAL1ALPHAE47_01 Name=Pol2-4H8,Pol2 Name=14 NA rs2270576 0.24 0.24 0.202 0.233427 0.2664 0.1746 0.4063 0.1959 0.1881 0.26 0.16 0.4 0.2 0.275 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.028753 NA NA 0.280698 0.230595 NA 0.333 NA 8.8445686 768 1 117487711 117487711 T A exonic PTGFRN NA nonsynonymous SNV PTGFRN:NM_020440:exon3:c.T829A:p.S277T exonic ENSG00000134247 NA nonsynonymous SNV ENSG00000134247:ENST00000393203:exon3:c.T829A:p.S277T Score=317;Name=lod=26 NA 1p13.1 Score=767;Name=V$PAX5_02 NA NA NA rs4546904 0.78 0.78 0.583 0.859425 0.8966 0.8452 0.9222 0.7549 0.9325 0.81 0.81 0.85 0.63 0.8916 0.85 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.975 N 3.82 T -0.918 T 0.001 T 0.05 -0.045 3.785 5.49 0.930 4.215 10.223 -0.044773 NA 1 0.701256 0.521562 NA NA NA 8.8438774 768 1 12009956 12009956 G A exonic PLOD1 NA nonsynonymous SNV PLOD1:NM_000302:exon3:c.G295A:p.A99T exonic ENSG00000083444 NA nonsynonymous SNV ENSG00000083444:ENST00000196061:exon3:c.G295A:p.A99T,ENSG00000083444:ENST00000429000:exon3:c.G295A:p.A99T,ENSG00000083444:ENST00000376369:exon4:c.G436A:p.A146T,ENSG00000083444:ENST00000449038:exon4:c.G436A:p.A146T NA NA 1p36.22 NA NA NA NA rs7551175 0.25 0.25 0.277 0.299521 0.1461 0.2698 0.1282 0.5749 0.2372 0.15 0.23 0.13 0.51 0.1934 0.53 1 T 0.0 B 0.0 B 0.144 N 1.000 P -2.63 N 1.99 T -0.920 T 0.000 T 0.43 -0.548 1.515 2.9 0.163 1.447 7.715 -0.548384 NA 0.82 0.150349 0.534725 NA 0.225 NA 8.8434844 768 6 30899524 30899524 T C exonic SFTA2 NA nonsynonymous SNV SFTA2:NM_205854:exon2:c.A110G:p.N37S exonic ENSG00000196260 NA nonsynonymous SNV ENSG00000196260:ENST00000359086:exon2:c.A110G:p.N37S NA NA 6p21.33 NA NA NA NA rs3131787 0.11 0.11 0.128 0.0822684 0.1551 0.0218 0.0663 0.0968 0.0613 0.17 0.03 0.07 0.14 0.1416 0.19 0.16 T 0.408 B 0.065 B . . 1.000 P . . 0.83 T -1.091 T 0.035 T 0.062 2.306 13.67 2.96 0.649 1.306 5.955 2.305613 2.305613 0.23 0.193245 0.121443 NA 0.145 NA 8.8433884 768 3 191097966 191097966 T C exonic CCDC50 NA nonsynonymous SNV CCDC50:NM_174908:exon6:c.T467C:p.M156T,CCDC50:NM_178335:exon7:c.T995C:p.M332T exonic ENSG00000152492 NA nonsynonymous SNV ENSG00000152492:ENST00000392455:exon6:c.T467C:p.M156T,ENSG00000152492:ENST00000392456:exon7:c.T995C:p.M332T NA NA 3q28 Score=774;Name=V$PAX6_01 NA Name=19 NA rs293813 0.63 0.63 0.645 0.644569 0.495 0.6865 0.5764 0.854 0.5204 0.5 0.65 0.58 0.84 0.5372 0.84 0.5 T 0.0 B 0.001 B 0.875 N 1.000 P -0.17 N 1.6 T -1.007 T 0.000 T 0.062 -0.369 2.262 0.585 -0.118 0.488 8.529 -0.368957 NA 0.57 0.461047 0.790286 ID=COSM149545;OCCURENCE=1(stomach) 0.514 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041451.1;CLNDSDB=.;CLNDSDBID=. 8.8400864 768 10 81371729 81371729 C G exonic SFTPA1 NA nonsynonymous SNV SFTPA1:NM_001164647:exon2:c.C148G:p.L50V,SFTPA1:NM_001093770:exon3:c.C193G:p.L65V,SFTPA1:NM_001164644:exon3:c.C148G:p.L50V,SFTPA1:NM_005411:exon3:c.C148G:p.L50V exonic ENSG00000122852 NA nonsynonymous SNV ENSG00000122852:ENST00000428376:exon2:c.C148G:p.L50V,ENSG00000122852:ENST00000429958:exon2:c.C148G:p.L50V,ENSG00000122852:ENST00000372308:exon3:c.C148G:p.L50V,ENSG00000122852:ENST00000398636:exon3:c.C148G:p.L50V,ENSG00000122852:ENST00000419470:exon3:c.C193G:p.L65V,ENSG00000122852:ENST00000439264:exon3:c.C148G:p.L50V Score=449;Name=lod=89 NA 10q22.3 NA NA NA NA rs1136450 0.41 0.41 0.293 NA NA NA NA NA NA 0.53 0.29 0.42 0.34 0.4942 0.53 1 T 0.0 B 0.0 B 0.403 N 0.212 P 0.345 N 2.53 T -0.933 T 0.000 T 0.092 -2.002 0.007 -2.96 -0.788 -0.414 4.469 -2.002151 NA 1 NA NA NA 0.565 NA 8.8391334 768 22 22869209 22869209 C G exonic ZNF280A NA nonsynonymous SNV ZNF280A:NM_080740:exon2:c.G746C:p.G249A exonic ENSG00000169548 NA nonsynonymous SNV ENSG00000169548:ENST00000302097:exon2:c.G746C:p.G249A NA NA 22q11.22 NA NA NA NA rs362124 0.53 0.53 0.476 0.473442 0.7038 0.4147 0.732 0.2383 0.4315 0.7 0.43 0.7 0.26 0.6102 0.7 0.09 T 0.584 P 0.196 B . . 1.000 P 1.905 M 5.21 T -1.078 T 0.000 T 0.037 1.092 9.455 -2.85 -0.404 -1.278 2.525 1.091525 NA 0.67 0.680814 0.307989 NA 0.406 NA 8.8385194 768 1 47799639 47799639 G C exonic CMPK1 NA nonsynonymous SNV CMPK1:NM_001136140:exon1:c.G22C:p.G8R,CMPK1:NM_016308:exon1:c.G22C:p.G8R exonic ENSG00000162368 NA nonsynonymous SNV ENSG00000162368:ENST00000371871:exon1:c.G22C:p.G8R,ENSG00000162368:ENST00000371873:exon1:c.G22C:p.G8R,ENSG00000162368:ENST00000450808:exon1:c.G22C:p.G8R,ENSG00000162368:ENST00000471289:exon1:c.G22C:p.G8R NA NA 1p33 NA Name=HMGN3,TAF1,Pol2,HEY1 Name=148 NA rs7543016 0.59 0.59 0.57 0.596446 0.4602 0.5843 0.5893 0.8245 0.4458 0.47 0.59 0.55 0.79 0.5647 0.79 0.7 T 0.0 B 0.0 B 0.038 N 1.000 P 0 N 0.15 T -0.952 T 0.000 T 0.038 -0.146 3.287 2.91 0.238 0.519 5.518 -0.145854 NA 0.51 0.470484 0.762333 NA NA NA 8.8379494 768 16 75238103 75238103 C T exonic CTRB2 NA nonsynonymous SNV CTRB2:NM_001025200:exon7:c.G748A:p.A250T exonic ENSG00000168928 NA nonsynonymous SNV ENSG00000168928:ENST00000562106:exon4:c.G463A:p.A155T,ENSG00000168928:ENST00000303037:exon7:c.G748A:p.A250T Score=361;Name=lod=39 NA 16q23.1 NA NA NA NA rs4737 0.82 0.82 0.799 0.828874 0.829 0.998 0.8862 0.6036 0.9182 0.82 1 0.88 0.58 0.8474 1 1 T 0.0 B 0.001 B 0.000 N 1.000 P 0.5 N -3.15 D -0.906 T 0.000 T 0.054 -0.815 0.636 4.09 0.573 2.536 5.027 -0.815252 NA 1 0.820116 0.626024 NA 0.746 NA 8.8368174 768 21 34925689 34925689 G A exonic SON NA synonymous SNV SON:NM_032195:exon3:c.G4152A:p.L1384L,SON:NM_138927:exon3:c.G4152A:p.L1384L exonic ENSG00000159140 NA synonymous SNV ENSG00000159140:ENST00000290239:exon3:c.G4152A:p.L1384L,ENSG00000159140:ENST00000300278:exon3:c.G4152A:p.L1384L,ENSG00000159140:ENST00000356577:exon3:c.G4152A:p.L1384L,ENSG00000159140:ENST00000381679:exon3:c.G4152A:p.L1384L,ENSG00000159140:ENST00000455528:exon3:c.G4152A:p.L1384L NA NA 21q22.11 NA NA NA NA rs61739710 0.19 0.19 0.182 0.175919 0.3082 0.1637 0.2421 0.0189 0.2178 0.3 0.15 0.27 0.03 0.2447 0.3 . . . . . . . . 0.000 P . . . . . . . . . -0.073 3.643 -5.81 -1.193 -1.279 5.172 -0.073046 NA NA 0.277326 0.063777 NA 0.08 NA 8.8364406 768 10 101977883 101977883 C T exonic CHUK NA nonsynonymous SNV CHUK:NM_001278:exon9:c.G802A:p.V268I exonic ENSG00000213341 NA nonsynonymous SNV ENSG00000213341:ENST00000370397:exon9:c.G802A:p.V268I Score=523;Name=lod=178 NA 10q24.31 NA NA NA NA rs2230804 0.56 0.56 0.592 0.545727 0.5179 0.5109 0.4294 0.7965 0.3538 0.52 0.5 0.49 0.76 0.4791 0.76 0.26 T 0.0 B 0.001 B 0.000 N 1.000 P 0.405 N -0.53 T -0.950 T 0.000 T 0.04 1.9 12.31 4.92 0.543 2.572 9.007 1.899988 1.899988 0.52 0.501047 0.743078 NA 0.522 NA 8.8352864 768 6 24403455 24403455 C T exonic MRS2 NA nonsynonymous SNV MRS2:NM_020662:exon1:c.C181T:p.R61C exonic ENSG00000124532 NA nonsynonymous SNV ENSG00000124532:ENST00000274747:exon1:c.C181T:p.R61C,ENSG00000124532:ENST00000378353:exon1:c.C181T:p.R61C,ENSG00000124532:ENST00000378386:exon1:c.C181T:p.R61C,ENSG00000124532:ENST00000443868:exon1:c.C181T:p.R61C,ENSG00000124532:ENST00000535061:exon1:c.C181T:p.R61C NA NA 6p22.3 NA Name=CHD2_(N-1250),RFX5_(N-494),ZNF263,Sin3Ak-20 Name=145 NA rs11695 0.13 0.13 0.149 0.113419 0.1938 0.1488 0.0965 0.0045 0.1534 0.2 0.16 0.09 0.01 0.161 0.2 0.14 T 0.004 B 0.002 B 0.828 N 1.000 P 0 N 1.42 T -1.013 T 0.019 T 0.162 1.559 11.17 -1.2 0.057 -0.374 1.176 1.559225 1.559225 0.09 0.143256 0.029358 NA 0.08 NA 8.8352774 769 6 78172260 78172260 C G exonic HTR1B NA synonymous SNV HTR1B:NM_000863:exon1:c.G861C:p.V287V exonic ENSG00000135312 NA synonymous SNV ENSG00000135312:ENST00000369947:exon1:c.G861C:p.V287V Score=646;Name=lod=563 NA 6q14.1 Score=768;Name=V$PPARA_01 Name=CTCF,GATA-2 Name=58 NA rs6296 0.35 0.35 0.316 0.338059 0.2634 0.5089 0.4049 0.2436 0.319 0.28 0.54 0.4 0.22 0.3064 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275119 NA NA 0.262442 0.224013 NA 0.304 NA 8.8344246 769 15 75932129 75932129 G T exonic IMP3 NA synonymous SNV IMP3:NM_018285:exon1:c.C381A:p.A127A exonic ENSG00000177971 NA synonymous SNV ENSG00000177971:ENST00000403490:exon1:c.C381A:p.A127A,ENSG00000177971:ENST00000314852:exon2:c.C381A:p.A127A Score=594;Name=lod=347 NA 15q24.2 Score=808;Name=V$HTF_01 Name=USF-1,c-Myc,HEY1,Egr-1,Pol2-4H8,ZNF263,Max,Oct-2,Mxi1_(bHLH),Pol2,HNF4A,YY1_(C-20),E2F6,USF1_(SC-8983),TAF1,POU2F2,HMGN3,USF2 Name=36 NA rs13737 0.37 0.37 0.392 0.39397 0.2704 0.369 0.3876 0.5151 0.3875 0.25 0.41 0.37 0.53 0.2961 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073347 NA NA 0.266069 0.477924 ID=COSM1374626;OCCURENCE=1(large_intestine) 0.275 NA 8.8340976 769 7 100551773 100551773 C A intergenic ACHE,MUC12 dist=58232;dist=61131 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C524A:p.T175K NA NA 7q22.1 NA NA NA NA rs73398734 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4993 0.49 0.69 T 0.94 P 0.278 B . . 0.729 N 0 N 3.14 T -0.984 T 0.008 T 0.034 -0.927 0.385 -2.25 -1.383 -1.780 3.245 -0.926627 NA 0.27 NA NA NA 0.493 NA 8.8340334 769 12 12301898 12301898 C T exonic LRP6 NA nonsynonymous SNV LRP6:NM_002336:exon14:c.G3184A:p.V1062I exonic ENSG00000070018 NA nonsynonymous SNV ENSG00000070018:ENST00000261349:exon14:c.G3184A:p.V1062I,ENSG00000070018:ENST00000543091:exon14:c.G3184A:p.V1062I Score=582;Name=lod=310 NA 12p13.2 NA NA NA NA rs2302685 0.88 0.88 0.87 0.885583 0.83 0.9196 0.9121 0.8691 0.911 0.82 0.92 0.91 0.89 0.8474 0.92 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.285 N -2.67 D -0.936 T 0.000 T 0.14 0.954 8.892 5.45 0.901 5.988 11.444 0.954292 NA 1 0.822326 0.874489 NA 0.826 NA 8.8336074 769 11 48347100 48347100 C T exonic OR4C3 NA nonsynonymous SNV OR4C3:NM_001004702:exon1:c.C608T:p.A203V exonic ENSG00000176547 NA nonsynonymous SNV ENSG00000176547:ENST00000319856:exon1:c.C608T:p.A203V NA NA 11p11.2 NA NA NA NA rs73465905 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 0.27 T 0.0 B 0.001 B 0.006 N 1.000 N -0.04 N 8.83 T -1.021 T 0.000 T 0.096 1.373 10.52 4.63 1.045 0.788 10.066 1.373492 1.373492 0.13 NA NA NA 0.391 NA 8.8335334 769 17 51901703 51901703 C G exonic KIF2B NA nonsynonymous SNV KIF2B:NM_032559:exon1:c.C1309G:p.R437G exonic ENSG00000141200 NA nonsynonymous SNV ENSG00000141200:ENST00000268919:exon1:c.C1309G:p.R437G Score=243;Name=lod=13 NA 17q22 NA NA NA NA rs4561519 0.81 0.81 0.823 0.76238 0.841 0.8145 0.7651 0.789 0.59 0.84 0.8 0.78 0.8 0.806 0.85 1 T 0.0 B 0.0 B 0.009 N 1.000 P -1.29 N -0.9 T -0.959 T 0.000 T 0.036 -1.97 0.007 5.73 1.569 7.980 9.862 -1.970271 NA 1 0.852907 0.80118 NA 0.797 NA 8.8334264 769 6 11105483 11105483 C A exonic ERVFRD-1 NA nonsynonymous SNV ERVFRD-1:NM_207582:exon2:c.G61T:p.D21Y exonic ENSG00000244476 NA nonsynonymous SNV ENSG00000244476:ENST00000542862:exon1:c.G61T:p.D21Y,ENSG00000244476:ENST00000472091:exon2:c.G61T:p.D21Y NA NA 6p24.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003313 0.011 0.04 D 0.743 P 0.095 B . . 0.670 N 0.345 N 2.43 T -0.962 T 0.007 T 0.388 1.914 12.36 0.235 0.308 0.305 . 1.913789 1.913789 NA NA NA NA 0.007 NA 8.8333003 769 16 71318001 71318001 G T exonic FTSJD1 NA nonsynonymous SNV FTSJD1:NM_001099642:exon3:c.C1823A:p.T608K,FTSJD1:NM_018348:exon3:c.C1823A:p.T608K exonic ENSG00000180917 NA nonsynonymous SNV ENSG00000180917:ENST00000338099:exon3:c.C1823A:p.T608K,ENSG00000180917:ENST00000434935:exon3:c.C1823A:p.T608K NA NA 16q22.2 NA NA NA NA rs3096381 0.11 0.11 0.079 0.113019 0.1879 0.0288 0.1354 0.0651 0.1718 0.16 0.03 0.17 0.07 0.1417 0.17 0.12 T 0.09 B 0.014 B 0.182 N 1.000 P 0.55 N 2.56 T -0.985 T 0.000 T 0.054 -0.51 1.669 2.66 0.204 1.210 8.442 -0.509532 NA 0.12 0.171163 0.078708 NA 0.116 NA 8.8325704 769 11 433417 433417 C T exonic ANO9 NA nonsynonymous SNV ANO9:NM_001012302:exon4:c.G247A:p.D83N exonic ENSG00000185101 NA nonsynonymous SNV ENSG00000185101:ENST00000332826:exon4:c.G247A:p.D83N NA NA 11p15.5 NA NA NA NA rs150163423 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0008 0.0009 0.02 D 0.454 P 0.115 B 0.000 N 1.000 N 0.805 L -0.27 T -0.922 T 0.169 T 0.068 -0.754 0.806 0.433 0.114 -0.783 3.842 -0.75377 NA 0.12 0.00093 0.000454 NA NA NA 8.8306034 769 10 43292647 43292647 A G exonic BMS1 NA nonsynonymous SNV BMS1:NM_014753:exon10:c.A1955G:p.K652R exonic ENSG00000165733 NA nonsynonymous SNV ENSG00000165733:ENST00000374518:exon10:c.A1955G:p.K652R NA NA 10q11.21 NA NA NA NA rs787795 0.18 0.18 0.16 0.180511 0.1571 0.1835 0.2392 0.1725 0.1708 0.16 0.2 0.2 0.16 0.1841 0.21 0.48 T 0.001 B 0.001 B 0.115 N 1.000 P 1.1 L 1.73 T -0.998 T 0.000 T 0.012 0.909 8.696 2.61 0.851 1.212 7.514 0.908575 NA 0.26 0.161672 0.168765 NA 0.159 NA 8.8304614 769 11 48146622 48146622 G A exonic PTPRJ NA nonsynonymous SNV PTPRJ:NM_001098503:exon6:c.G977A:p.R326Q,PTPRJ:NM_002843:exon6:c.G977A:p.R326Q exonic ENSG00000149177 NA nonsynonymous SNV ENSG00000149177:ENST00000418331:exon6:c.G977A:p.R326Q,ENSG00000149177:ENST00000440289:exon6:c.G977A:p.R326Q NA NA 11p11.2 NA NA NA NA rs1503185 0.22 0.22 0.216 0.242812 0.162 0.3165 0.1297 0.3056 0.2454 0.16 0.26 0.14 0.31 0.1807 0.31 0.67 T 0.008 B 0.001 B . . 1.000 P 0.805 L 3.64 T -0.987 T 0.000 T 0.012 -0.17 3.17 -10.3 -5.127 -4.801 5.750 -0.170315 NA 0.46 0.161354 0.252385 NA 0.167 NA 8.8292794 769 16 334580 334580 G C exonic PDIA2 NA synonymous SNV PDIA2:NM_006849:exon2:c.G393C:p.P131P exonic ENSG00000185615 NA synonymous SNV ENSG00000185615:ENST00000219406:exon2:c.G393C:p.P131P,ENSG00000185615:ENST00000404312:exon2:c.G393C:p.P131P NA NA 16p13.3 NA NA NA NA rs432925 0.23 0.23 0.237 0.246406 0.2913 0.119 0.2089 0.32 0.2587 0.28 0.12 0.22 0.29 0.2602 0.29 . . . . . . . . 0.000 P . . . . -1.026 T 0.000 T . -1.171 0.088 -8.93 -2.615 -1.350 2.416 -1.171117 NA NA 0.286307 0.290939 NA 0.275 NA 8.8288596 769 17 39114962 39114962 C T exonic KRT39 NA nonsynonymous SNV KRT39:NM_213656:exon7:c.G1367A:p.R456Q exonic ENSG00000196859 NA nonsynonymous SNV ENSG00000196859:ENST00000355612:exon7:c.G1367A:p.R456Q NA NA 17q21.2 Score=770;Name=V$PAX2_01 NA NA NA rs7213256 0.21 0.21 0.218 0.249201 0.161 0.0327 0.1902 0.5408 0.2106 0.16 0.04 0.18 0.53 0.1848 0.53 0.51 T 0.226 B 0.011 B 0.003 N 1.000 P 1.525 L -1.57 D -0.930 T 0.000 T 0.108 3.009 16.04 1.04 0.280 0.213 5.887 3.008632 3.008632 0.36 0.158752 0.473218 ID=COSM1383052;OCCURENCE=1(large_intestine) 0.225 NA 8.8287814 769 6 43492578 43492578 G A exonic XPO5 NA synonymous SNV XPO5:NM_020750:exon30:c.C3303T:p.Y1101Y exonic ENSG00000124571 NA synonymous SNV ENSG00000124571:ENST00000265351:exon30:c.C3303T:p.Y1101Y Score=579;Name=lod=302 NA 6p21.1 NA Name=Pol2-4H8 NA NA rs2257082 0.35 0.35 0.326 0.32488 0.2853 0.62 0.2983 0.1611 0.3016 0.29 0.61 0.29 0.18 0.2948 0.61 . . . . . . . . 0.000 P . . . . -0.783 T 0.145 T . -0.097 3.527 -6.07 -0.948 -0.282 19.365 -0.096513 NA NA 0.258444 0.173077 NA 0.348 NA 8.8281226 769 8 67380528 67380528 T C exonic ADHFE1 NA nonsynonymous SNV ADHFE1:NM_144650:exon14:c.T1345C:p.C449R exonic ENSG00000147576 NA nonsynonymous SNV ENSG00000147576:ENST00000396623:exon14:c.T1345C:p.C449R,ENSG00000147576:ENST00000415254:exon15:c.T1201C:p.C401R Score=478;Name=lod=117 NA 8q13.1 NA NA NA NA rs1060242 0.55 0.55 0.547 0.579473 0.502 0.381 0.6614 0.7496 0.5757 0.5 0.41 0.64 0.74 0.5313 0.74 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.515 N 1.31 T -0.915 T 0.000 T 0.104 -0.403 2.114 3.68 0.295 1.922 10.803 -0.402972 NA 1 0.473721 0.718112 NA 0.543 NA 8.8263124 769 17 46926615 46926615 G A exonic CALCOCO2 NA nonsynonymous SNV CALCOCO2:NM_001261395:exon4:c.G203A:p.G68E,CALCOCO2:NM_005831:exon5:c.G419A:p.G140E,CALCOCO2:NM_001261390:exon6:c.G491A:p.G164E,CALCOCO2:NM_001261391:exon6:c.G482A:p.G161E exonic ENSG00000136436 NA nonsynonymous SNV ENSG00000136436:ENST00000502761:exon4:c.G419A:p.G140E,ENSG00000136436:ENST00000508679:exon4:c.G203A:p.G68E,ENSG00000136436:ENST00000258947:exon5:c.G419A:p.G140E,ENSG00000136436:ENST00000509415:exon5:c.G335A:p.G112E,ENSG00000136436:ENST00000513119:exon5:c.G203A:p.G68E,ENSG00000136436:ENST00000448105:exon6:c.G491A:p.G164E,ENSG00000136436:ENST00000505071:exon6:c.G446A:p.G149E,ENSG00000136436:ENST00000509507:exon6:c.G482A:p.G161E Score=428;Name=lod=73 NA 17q21.32 NA NA NA NA rs550510 0.27 0.27 0.255 0.243211 0.173 0.6538 0.219 0.025 0.2045 0.18 0.66 0.17 0.03 0.1934 0.66 1 T 0.133 B 0.19 B 0.004 N 0.000 P 1.095 L 3.04 T -0.932 T 0.000 T 0.297 1.944 12.46 2.83 0.383 0.728 6.391 1.94442 1.94442 0.72 0.141047 0.035633 ID=COSM148292;OCCURENCE=1(stomach) 0.217 NA 8.8258864 769 5 147480955 147480955 A G exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon14:c.A1258G:p.K420E,SPINK5:NM_001127699:exon14:c.A1258G:p.K420E,SPINK5:NM_006846:exon14:c.A1258G:p.K420E exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon14:c.A1258G:p.K420E,ENSG00000133710:ENST00000359874:exon14:c.A1258G:p.K420E,ENSG00000133710:ENST00000398454:exon14:c.A1258G:p.K420E,ENSG00000133710:ENST00000508733:exon14:c.A1201G:p.K401E Score=435;Name=lod=78 NA 5q32 NA NA NA NA rs2303067 0.43 0.43 0.386 0.433107 0.4871 0.4851 0.6167 0.1989 0.5102 0.46 0.46 0.59 0.23 0.5079 0.59 1 T 0.0 B 0.003 B 0.838 N 1.000 P -1.59 N 3.8 T -0.952 T 0.000 T 0.233 -1.086 0.156 2.84 0.538 0.153 4.719 -1.086008 NA 1 0.513309 0.255538 NA 0.362 CLINSIG=other|other|other;CLNDBN=Atopy\x2c_susceptibility_to|Dermatitis\x2c_atopic\x2c_6\x2c_susceptibility_to|Asthma\x2c_susceptibility_to;CLNREVSTAT=single|single|single;CLNACC=RCV000005585.1|RCV000005586.1|RCV000005587.1;CLNDSDB=MedGen|.|MedGen:OMIM;CLNDSDBID=C1840254|.|C1869116:600807 8.8250244 770 12 55794976 55794976 A G exonic OR6C65 NA nonsynonymous SNV OR6C65:NM_001005518:exon1:c.A664G:p.T222A exonic ENSG00000205328 NA nonsynonymous SNV ENSG00000205328:ENST00000379665:exon1:c.A664G:p.T222A NA NA 12q13.2 NA NA NA NA rs7971073 0.78 0.78 0.743 0.780551 0.841 0.9266 0.8746 0.4879 0.8967 0.84 0.91 0.87 0.48 0.8343 0.91 0.04 D 0.623 P 0.595 P 0.125 N 1.000 P 1.425 L 8.91 T -0.971 T 0.000 T 0.023 2.258 13.51 3.71 1.688 0.741 4.443 2.258051 2.258051 0.03 0.83407 0.543123 NA 0.681 NA 8.8239634 770 16 1544301 1544301 G C exonic TELO2 NA nonsynonymous SNV TELO2:NM_016111:exon2:c.G19C:p.E7Q exonic ENSG00000100726 NA nonsynonymous SNV ENSG00000100726:ENST00000262319:exon2:c.G19C:p.E7Q,ENSG00000100726:ENST00000497339:exon2:c.G19C:p.E7Q NA NA 16p13.3 NA Name=ZNF263 NA NA rs2667660 0.26 0.26 0.071 0.287939 0.2416 0.5119 0.196 0.2352 0.2413 0.21 0.48 0.17 0.17 0.2522 0.48 0.54 T 0.002 B 0.001 B 0.741 N 1.000 P 0 N 2.47 T -0.908 T 0.000 T 0.054 0.531 6.874 0.132 0.066 1.489 1.871 0.530569 NA 0.11 0.015581 0.017735 NA NA NA 8.8239524 770 22 50944163 50944163 G A exonic LMF2 NA synonymous SNV LMF2:NM_033200:exon6:c.C856T:p.L286L exonic ENSG00000100258 NA synonymous SNV ENSG00000100258:ENST00000216080:exon6:c.C781T:p.L261L,ENSG00000100258:ENST00000380796:exon6:c.C856T:p.L286L,ENSG00000100258:ENST00000474879:exon6:c.C856T:p.L286L Score=340;Name=lod=32 NA 22q13.33 NA NA NA NA rs128941 0.59 0.59 0.561 0.555511 0.6342 0.7361 0.6513 0.3124 0.5491 0.62 0.77 0.63 0.3 0.6071 0.77 . . . . . . . . 0.000 P . . . . -1.010 T 0.000 T . -0.78 0.73 3.77 1.139 8.738 9.501 -0.780313 NA NA 0.601628 0.371085 NA 0.609 NA 8.8237386 770 6 90315789 90315789 A G exonic ANKRD6 NA nonsynonymous SNV ANKRD6:NM_001242809:exon5:c.A382G:p.I128V,ANKRD6:NM_001242811:exon5:c.A382G:p.I128V,ANKRD6:NM_001242813:exon5:c.A382G:p.I128V,ANKRD6:NM_014942:exon5:c.A382G:p.I128V exonic ENSG00000135299 NA nonsynonymous SNV ENSG00000135299:ENST00000339746:exon5:c.A382G:p.I128V,ENSG00000135299:ENST00000369408:exon5:c.A382G:p.I128V,ENSG00000135299:ENST00000447838:exon5:c.A382G:p.I128V,ENSG00000135299:ENST00000485637:exon5:c.A382G:p.I128V,ENSG00000135299:ENST00000522441:exon5:c.A382G:p.I128V,ENSG00000135299:ENST00000465722:exon6:c.A382G:p.I128V Score=600;Name=lod=367 NA 6q15 NA NA Name=2 NA rs3748085 0.84 0.84 0.839 0.781749 0.831 0.9077 0.866 0.6831 0.6748 0.85 0.93 0.88 0.69 0.8356 0.93 0.96 T 0.0 B 0.0 B 0.006 N 0.000 P 0.54 N -0.31 T -1.079 T 0.055 T 0.137 0.284 5.538 4.07 0.470 3.910 10.218 0.284214 NA 1 0.843266 0.716853 NA 0.746 NA 8.8234674 770 12 15035919 15035919 T C exonic MGP NA nonsynonymous SNV MGP:NM_000900:exon3:c.A157G:p.K53E,MGP:NM_001190839:exon4:c.A232G:p.K78E exonic ENSG00000111341 NA nonsynonymous SNV ENSG00000111341:ENST00000539261:exon3:c.A157G:p.K53E,ENSG00000111341:ENST00000228938:exon4:c.A232G:p.K78E NA NA 12p12.3 NA NA NA NA rs1801716 0.0023 0.0023 0.003 0.00399361 0.003 NA 0.0043 NA 0.0143 0.004 NA 0.01 NA 0.0051 0.01 0.28 T 0.454 P 0.026 B 0.556 N 1.000 N 1.245 L 1.52 T -1.047 T 0.031 T 0.449 1.369 10.5 1.86 0.166 1.799 4.413 1.368978 1.368978 0.55 0.004884 0.000908 NA NA NA 8.8203494 770 1 152282267 152282267 G A exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C5095T:p.R1699C exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C5095T:p.R1699C NA NA 1q21.3 NA NA NA NA rs12405278 0.26 0.26 0.211 0.28774 0.1421 0.5843 0.3905 0.0121 0.4315 0.15 0.59 0.33 0.02 0.2288 0.59 0.06 T 0.999 D 0.912 D . . 1.000 P 1.7 L 3.66 T -1.024 T 0.015 T 0.053 -0.186 3.096 1.76 0.482 0.137 7.611 -0.185843 NA 0 0.144186 0.036541 NA 0.174 NA 8.8182474 770 1 228505739 228505739 G A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon53:c.G13996A:p.G4666S,OBSCN:NM_052843:exon53:c.G13996A:p.G4666S,OBSCN:NM_001271223:exon64:c.G16867A:p.G5623S exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon53:c.G13996A:p.G4666S,ENSG00000154358:ENST00000366709:exon53:c.G5353A:p.G1785S,ENSG00000154358:ENST00000422127:exon53:c.G13996A:p.G4666S,ENSG00000154358:ENST00000366707:exon59:c.G6898A:p.G2300S,ENSG00000154358:ENST00000570156:exon64:c.G16867A:p.G5623S NA NA 1q42.13 NA NA NA NA rs3795801 0.18 0.18 0.152 0.173123 0.159 0.1518 0.2435 0.2216 0.0941 0.16 0.15 0.25 0.19 0.1843 0.25 0.84 T 0.002 B 0.004 B 0.795 N 1.000 P 0.525 N -0.06 T -0.951 T 0.000 T 0.042 2.236 13.43 -5.37 -1.559 0.239 20.253 2.235989 2.235989 0.26 0.173477 0.23909 NA 0.188 NA 8.8165564 771 11 5602438 5602438 T A exonic OR52B6 NA nonsynonymous SNV OR52B6:NM_001005162:exon1:c.T332A:p.L111H exonic ENSG00000187747 NA nonsynonymous SNV ENSG00000187747:ENST00000345043:exon1:c.T332A:p.L111H NA NA 11p15.4 NA Name=CEBPB,PU.1,TAL1_(SC-12984) Name=2 NA rs2341432 0.68 0.68 0.684 0.715056 0.4761 0.9802 0.67 0.7352 0.6922 0.47 0.97 0.63 0.71 0.5745 0.97 0.15 T 0.0 B 0.0 B 0.537 N 1.000 P 0.03 N 6.64 T -0.967 T 0.000 T 0.072 -0.045 3.783 2.71 0.400 0.473 5.909 -0.045281 NA 0.35 0.468335 0.697632 NA 0.616 NA 8.8143984 771 1 176863867 176863867 T C exonic ASTN1 NA nonsynonymous SNV ASTN1:NM_004319:exon17:c.A2771G:p.H924R,ASTN1:NM_207108:exon17:c.A2771G:p.H924R exonic ENSG00000152092 NA nonsynonymous SNV ENSG00000152092:ENST00000361833:exon17:c.A2771G:p.H924R,ENSG00000152092:ENST00000367654:exon17:c.A2795G:p.H932R,ENSG00000152092:ENST00000367657:exon17:c.A2771G:p.H924R,ENSG00000152092:ENST00000424564:exon17:c.A2771G:p.H924R Score=512;Name=lod=160 NA 1q25.2 NA NA NA NA rs2228956 0.83 0.83 0.821 0.828874 0.8588 0.8006 0.7233 0.8593 0.8609 0.85 0.81 0.78 0.86 0.8268 0.87 1 T 0.0 B 0.0 B 0.000 N 0.998 P -0.805 N 1.65 T -0.971 T 0.000 T 0.124 0.97 8.958 5.26 1.387 5.347 14.087 0.969826 NA 1 0.833605 0.874035 NA 0.877 NA 8.8141284 771 17 7386279 7386279 T C exonic SLC35G6 NA nonsynonymous SNV SLC35G6:NM_001102614:exon2:c.T976C:p.W326R exonic ENSG00000259224 NA nonsynonymous SNV ENSG00000259224:ENST00000412468:exon2:c.T976C:p.W326R Score=425;Name=lod=71 NA 17p13.1 NA NA NA NA rs7219992 0.58 0.58 0.678 0.747204 0.7734 0.9187 0.8718 0.5726 0.6912 0.57 0.7 0.69 0.4 0.7466 0.7 0.43 T 0.0 B 0.0 B . . 0.000 P 0 N -0.24 T -0.937 T 0.000 T 0.066 0.03 4.169 3.72 0.538 1.015 7.459 0.029957 NA 0.31 NA NA NA NA NA 8.8133334 771 3 186395572 186395572 A T exonic HRG NA nonsynonymous SNV HRG:NM_000412:exon7:c.A1478T:p.N493I exonic ENSG00000113905 NA nonsynonymous SNV ENSG00000113905:ENST00000232003:exon7:c.A1478T:p.N493I Score=397;Name=lod=55 NA 3q27.3 NA NA NA NA rs1042464 0.64 0.64 0.631 0.650559 0.4831 0.8145 0.5879 0.711 0.6166 0.48 0.78 0.62 0.72 0.552 0.78 1 T 0.0 B 0.0 B 0.006 N 1.000 P -2.3 N 3.46 T -1.002 T 0.000 T 0.033 -1.358 0.028 4.57 0.724 1.915 7.778 -1.358397 NA 1 0.485 0.682251 NA 0.638 NA 8.8132334 771 5 147475386 147475386 A G exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon10:c.A800G:p.Q267R,SPINK5:NM_001127699:exon10:c.A800G:p.Q267R,SPINK5:NM_006846:exon10:c.A800G:p.Q267R exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon10:c.A800G:p.Q267R,ENSG00000133710:ENST00000359874:exon10:c.A800G:p.Q267R,ENSG00000133710:ENST00000398454:exon10:c.A800G:p.Q267R,ENSG00000133710:ENST00000508733:exon10:c.A743G:p.Q248R NA NA 5q32 NA NA NA NA rs6892205 0.49 0.49 0.452 0.508986 0.4911 0.4812 0.6513 0.4682 0.5102 0.46 0.46 0.62 0.48 0.5213 0.62 0.68 T 0.0 B 0.001 B 0.242 N 1.000 P -0.35 N 3.74 T -0.968 T 0.000 T 0.069 -2.903 0.001 -7.64 -2.626 -4.017 16.378 -2.903181 NA 1 0.508116 0.460497 NA 0.428 NA 8.8128174 771 4 155219662 155219662 G C exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_017639:exon18:c.C4439G:p.T1480R exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000357232:exon18:c.C4439G:p.T1480R NA NA 4q31.3 NA NA NA NA rs17031394 0.15 0.15 0.14 0.171925 0.173 0.1528 0.1138 0.1679 0.2372 0.16 0.13 0.15 0.15 0.1723 0.18 0.74 T 0.001 B 0.0 B 0.086 N 1.000 P -0.24 N 2.14 T -1.038 T 0.000 T 0.083 -0.336 2.409 -10.2 -1.726 -1.181 3.735 -0.335762 NA 0.87 0.176628 0.182478 NA 0.13 NA 8.8114054 771 22 18165995 18165995 T G exonic BCL2L13 NA nonsynonymous SNV BCL2L13:NM_001270726:exon2:c.T209G:p.I70R,BCL2L13:NM_001270727:exon2:c.T209G:p.I70R,BCL2L13:NM_001270732:exon3:c.T137G:p.I46R,BCL2L13:NM_001270734:exon3:c.T137G:p.I46R,BCL2L13:NM_001270735:exon3:c.T137G:p.I46R,BCL2L13:NM_015367:exon3:c.T137G:p.I46R exonic ENSG00000099968 NA nonsynonymous SNV ENSG00000099968:ENST00000418951:exon2:c.T137G:p.I46R,ENSG00000099968:ENST00000317582:exon3:c.T137G:p.I46R,ENSG00000099968:ENST00000355028:exon3:c.T137G:p.I46R,ENSG00000099968:ENST00000493680:exon3:c.T137G:p.I46R,ENSG00000099968:ENST00000498133:exon3:c.T137G:p.I46R,ENSG00000099968:ENST00000399782:exon4:c.T137G:p.I46R NA NA 22q11.21 NA NA NA NA rs2587070 0.09 0.09 0.075 0.0710863 0.173 0.004 0.1326 0.0204 0.0603 0.19 0.0035 0.14 0.03 0.1509 0.2 0.36 T 0.148 B 0.053 B 0.083 N 1.000 P 0 N 3.71 T -0.924 T 0.000 T 0.11 -0.482 1.782 -2.15 -0.403 -2.225 7.667 -0.481591 NA 0.29 0.202212 0.055404 NA 0.13 NA 8.8072214 771 22 42537628 42537628 T C ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN Score=304;Name=lod=23 NA 22q13.2 NA NA NA NA rs150786922 0.01 0.01 0.006 0.0111821 0.008 NA 0.0101 0.0189 0.0164 0.01 NA 0.01 0.02 0.0187 0.02 1 T 0.0 B 0.001 B 0.000 N 1.000 D . . . . -1.061 T 0.032 T . -0.203 3.017 3.59 0.857 0.059 7.355 -0.202716 NA 1 NA NA NA NA NA 8.8066333 771 6 30862423 30862423 C T exonic DDR1 NA nonsynonymous SNV DDR1:NM_001202522:exon10:c.C1406T:p.P469L exonic ENSG00000204580 NA nonsynonymous SNV ENSG00000204580:ENST00000361741:exon6:c.C599T:p.P200L,ENSG00000204580:ENST00000417521:exon6:c.C794T:p.P265L Score=618;Name=lod=435 NA 6p21.33 NA NA NA NA rs1264319 0.16 0.16 0.17 0.128195 0.162 0.0585 0.0951 0.177 0.1227 0.17 0.07 0.12 0.26 0.1676 0.26 0.43 T 0.0 B 0.0 B . . 0.000 P . . -1.19 T -1.073 T 0.064 T . 0.752 7.986 2.73 0.837 0.405 7.481 0.752226 NA 0.24 0.197558 0.194734 NA 0.174 NA 8.8061754 772 7 897496 897496 G A exonic SUN1 NA nonsynonymous SNV SUN1:NM_001171944:exon11:c.G1117A:p.E373K,SUN1:NM_025154:exon12:c.G1177A:p.E393K,SUN1:NM_001130965:exon13:c.G1426A:p.E476K exonic ENSG00000164828 NA nonsynonymous SNV ENSG00000164828:ENST00000413514:exon9:c.G820A:p.E274K,ENSG00000164828:ENST00000429178:exon11:c.G1201A:p.E401K,ENSG00000164828:ENST00000452783:exon11:c.G1117A:p.E373K,ENSG00000164828:ENST00000389574:exon12:c.G1177A:p.E393K,ENSG00000164828:ENST00000425407:exon12:c.G1177A:p.E393K,ENSG00000164828:ENST00000401592:exon13:c.G1426A:p.E476K,ENSG00000164828:ENST00000405266:exon14:c.G1537A:p.E513K,ENSG00000164828:ENST00000456758:exon19:c.G1993A:p.E665K NA NA 7p22.3 NA NA Name=8 NA rs59910530 0.16 0.16 0.123 0.168331 0.1849 0.1359 0.2406 0.0772 0.2566 0.18 0.16 0.24 0.1 0.1817 0.24 0.91 T 0.021 B 0.004 B 0.820 N 1.000 P 0 N 2.32 T -1.022 T 0.000 T 0.241 0.933 8.8 -10.3 -2.067 -0.212 9.034 0.932697 NA 0.16 0.161999 0.084648 NA 0.13 NA 8.8047344 772 8 27324822 27324822 T C exonic CHRNA2 NA nonsynonymous SNV CHRNA2:NM_000742:exon5:c.A373G:p.T125A exonic ENSG00000120903 NA nonsynonymous SNV ENSG00000120903:ENST00000520933:exon4:c.A373G:p.T125A,ENSG00000120903:ENST00000240132:exon5:c.A328G:p.T110A,ENSG00000120903:ENST00000407991:exon5:c.A373G:p.T125A,ENSG00000120903:ENST00000523695:exon5:c.A373G:p.T125A NA NA 8p21.2 NA NA NA NA rs891398 0.63 0.63 0.637 0.610224 0.5119 0.6498 0.5562 0.8298 0.4121 0.49 0.69 0.57 0.83 0.5311 0.83 0.77 T 0.0 B 0.0 B 0.002 N 1.000 P -1.125 N -1.17 T -0.957 T 0.000 T 0.062 -1.604 0.014 3.46 1.342 0.603 5.715 -1.604403 NA 0.89 0.487093 0.761689 NA 0.616 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116712.2|RCV000124271.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.8032404 772 9 79320095 79320095 T G exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.A7095C:p.L2365F exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.A7095C:p.L2365F,ENSG00000106772:ENST00000428286:exon8:c.A6018C:p.L2006F NA NA 9q21.2 NA NA NA NA rs3739524 0.3 0.3 0.3 0.282548 0.173 0.4673 0.1787 0.3495 0.1881 0.18 0.5 0.17 0.38 0.2123 0.5 0.14 T 0.006 B 0.003 B 0.746 N 1.000 P 1.78 L 0.79 T -0.974 T 0.000 T 0.208 0.45 6.441 -6.03 -1.146 -0.885 4.052 0.449511 NA 0.02 0.146706 0.303571 NA 0.203 NA 8.8013274 772 5 94861118 94861118 G C exonic TTC37 NA nonsynonymous SNV TTC37:NM_014639:exon15:c.C1309G:p.L437V exonic ENSG00000198677 NA nonsynonymous SNV ENSG00000198677:ENST00000514952:exon14:c.C1165G:p.L389V,ENSG00000198677:ENST00000358746:exon15:c.C1309G:p.L437V NA NA 5q15 NA NA NA NA rs17084873 0.21 0.21 0.227 0.241813 0.1779 0.12 0.1772 0.4228 0.2342 0.18 0.13 0.2 0.38 0.1927 0.39 0.17 T 0.003 B 0.006 B 0.212 N 1.000 P -0.205 N 0.31 T -1.007 T 0.000 T 0.069 0.655 7.515 3.87 0.727 1.085 5.587 0.655409 NA 0.35 0.163953 0.388283 NA 0.268 NA 8.7987804 772 14 64522674 64522674 G C exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon49:c.G9757C:p.D3253H,SYNE2:NM_182914:exon49:c.G9757C:p.D3253H exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000344113:exon49:c.G9757C:p.D3253H,ENSG00000054654:ENST00000358025:exon49:c.G9757C:p.D3253H,ENSG00000054654:ENST00000554584:exon49:c.G9856C:p.D3286H Score=259;Name=lod=15 NA 14q23.2 NA NA NA NA rs8010911 0.73 0.73 0.699 0.68131 0.8638 0.7778 0.7954 0.3593 0.7485 0.86 0.81 0.79 0.39 0.8076 0.86 0.15 T 0.343 B 0.445 B 0.267 N 0.000 P 0.895 L 1.22 T -1.079 T 0.000 T 0.145 1.964 12.52 2.85 0.343 2.762 9.566 1.963708 1.963708 0.19 0.863515 0.474466 NA 0.696 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118560.1;CLNDSDB=.;CLNDSDBID=. 8.7984184 772 10 72518009 72518009 A G exonic ADAMTS14 NA nonsynonymous SNV ADAMTS14:NM_080722:exon21:c.A3146G:p.E1049G,ADAMTS14:NM_139155:exon21:c.A3155G:p.E1052G exonic ENSG00000138316 NA nonsynonymous SNV ENSG00000138316:ENST00000373207:exon21:c.A3146G:p.E1049G,ENSG00000138316:ENST00000373208:exon21:c.A3155G:p.E1052G NA NA 10q22.1 NA NA NA NA rs4747096 0.23 0.23 0.212 0.218051 0.1849 0.37 0.2305 0.1694 0.1524 0.19 0.37 0.2 0.17 0.1888 0.37 0.43 T 0.0 B 0.0 B 0.350 N 1.000 P -0.95 N 0.11 T -0.949 T 0.000 T 0.027 -0.184 3.106 2.98 0.334 1.663 4.989 -0.183744 NA 0.44 0.161279 0.188379 NA 0.261 NA 8.7983544 772 19 57646570 57646570 T C exonic ZIM3 NA nonsynonymous SNV ZIM3:NM_052882:exon5:c.A1135G:p.I379V exonic ENSG00000141946 NA nonsynonymous SNV ENSG00000141946:ENST00000269834:exon5:c.A1135G:p.I379V NA NA 19q13.43 NA NA NA NA rs4801433 0.4 0.4 0.371 0.422524 0.5149 0.3621 0.4741 0.2678 0.5624 0.5 0.36 0.5 0.24 0.488 0.53 0.16 T 0.978 D 0.952 D . . 1.000 P 0.105 N 3.21 T -0.969 T 0.000 T 0.021 -1.202 0.071 1.68 1.237 -0.574 5.684 -1.202238 NA 0.57 0.532209 0.310486 NA 0.283 NA 8.7982244 772 11 48286231 48286231 T A exonic OR4X1 NA stopgain OR4X1:NM_001004726:exon1:c.T819A:p.Y273X exonic ENSG00000176567 NA stopgain ENSG00000176567:ENST00000320048:exon1:c.T819A:p.Y273X Score=363;Name=lod=40 NA 11p11.2 Score=898;Name=V$TATA_01 NA NA NA rs10838851 0.66 0.66 0.638 0.604233 0.7445 0.5476 0.7406 0.5461 0.5 0.75 0.6 0.74 0.53 0.7037 0.75 1 T . . . . . . 0.000 P . . . . . . . . . 0.525 6.843 2.38 0.536 -0.199 5.848 0.524683 NA 0 0.754537 0.565879 NA 0.616 NA 8.797263 773 14 20296004 20296004 C T exonic OR4N2 NA nonsynonymous SNV OR4N2:NM_001004723:exon1:c.C397T:p.P133S exonic ENSG00000176294 NA nonsynonymous SNV ENSG00000176294:ENST00000315947:exon1:c.C397T:p.P133S,ENSG00000176294:ENST00000568211:exon1:c.C397T:p.P133S,ENSG00000176294:ENST00000557677:exon2:c.C397T:p.P133S NA NA 14q11.2 NA Name=CTCF NA NA rs2318279 0.26 0.26 0.253 NA NA NA NA NA NA 0.27 0.12 0.21 0.44 0.2822 0.44 0.16 T 0.0 B 0.0 B 0.017 N 1.000 P 0.66 N 5.46 T -0.950 T 0.000 T 0.246 -1.056 0.188 -1.58 -0.283 -1.373 2.051 -1.055704 NA 0.67 0.256395 0.375851 ID=COSM147728;OCCURENCE=1(stomach) 0.333 NA 8.7947384 773 3 186917751 186917751 C G exonic RTP1 NA nonsynonymous SNV RTP1:NM_153708:exon2:c.C685G:p.Q229E exonic ENSG00000175077 NA nonsynonymous SNV ENSG00000175077:ENST00000312295:exon2:c.C685G:p.Q229E NA NA 3q27.3 NA NA NA NA rs6764714 0.43 0.43 0.416 0.427516 0.5437 0.2837 0.4683 0.3971 0.4683 0.54 0.26 0.48 0.41 0.4759 0.54 1 T 0.0 B 0.0 B 0.003 N 1.000 P 0.55 N 1.62 T -0.976 T 0.000 T 0.056 0.558 7.016 5.74 1.456 1.717 12.993 0.55777 NA 1 0.523721 0.403768 NA 0.471 NA 8.7900124 773 22 51064039 51064039 G C exonic ARSA NA nonsynonymous SNV ARSA:NM_000487:exon7:c.C1178G:p.T393S,ARSA:NM_001085428:exon7:c.C920G:p.T307S,ARSA:NM_001085425:exon8:c.C1178G:p.T393S,ARSA:NM_001085426:exon8:c.C1178G:p.T393S,ARSA:NM_001085427:exon8:c.C1178G:p.T393S exonic ENSG00000100299 NA nonsynonymous SNV ENSG00000100299:ENST00000216124:exon7:c.C1178G:p.T393S,ENSG00000100299:ENST00000453344:exon7:c.C920G:p.T307S,ENSG00000100299:ENST00000547307:exon7:c.C1172G:p.T391S,ENSG00000100299:ENST00000356098:exon8:c.C1178G:p.T393S,ENSG00000100299:ENST00000395619:exon8:c.C1178G:p.T393S,ENSG00000100299:ENST00000395621:exon8:c.C1178G:p.T393S,ENSG00000100299:ENST00000547805:exon8:c.C1172G:p.T391S NA NA 22q13.33 Score=794;Name=V$COMP1_01 NA NA NA rs743616 0.43 0.43 0.436 0.405551 0.5288 0.3214 0.4697 0.3578 0.3845 0.51 0.32 0.49 0.37 0.4843 0.53 0.42 T 0.0 B 0.0 B 0.650 N 1.000 P -0.42 N -2.52 D -1.017 T 0.000 T 0.235 0.814 8.274 -0.029 0.053 0.103 1.589 0.813939 NA 0.43 0.530233 0.394008 NA 0.594 CLINSIG=pathogenic|non-pathogenic;CLNDBN=Metachromatic_leukodystrophy|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000020311.1|RCV000078937.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1130:C0023522:250100:ORPHA512:396338004|. 8.7900004 773 1 3421897 3421897 A G exonic MEGF6 NA nonsynonymous SNV MEGF6:NM_001409:exon17:c.T2063C:p.L688P exonic ENSG00000162591 NA nonsynonymous SNV ENSG00000162591:ENST00000294599:exon14:c.T1748C:p.L583P,ENSG00000162591:ENST00000356575:exon17:c.T2063C:p.L688P,ENSG00000162591:ENST00000485002:exon17:c.T2084C:p.L695P NA NA 1p36.32 NA NA NA NA rs2821008 0.23 0.23 0.205 0.259185 0.1799 0.2331 0.2277 0.4251 0.1656 0.17 0.2 0.23 0.36 0.1998 0.36 0.35 T 0.0 B 0.0 B 0.237 N 1.000 P -1.6 N 2.57 T -0.927 T 0.000 T 0.393 -2.35 0.004 2.53 0.094 1.318 8.044 -2.349863 NA 0.48 0.165112 0.343704 NA 0.319 NA 8.7885214 773 19 5778517 5778517 A T exonic CATSPERD NA nonsynonymous SNV CATSPERD:NM_152784:exon22:c.A2227T:p.T743S exonic ENSG00000174898 NA nonsynonymous SNV ENSG00000174898:ENST00000381624:exon22:c.A2227T:p.T743S NA NA 19p13.3 NA NA NA NA rs2305925 0.28 0.28 0.229 0.294129 0.165 0.5506 0.1859 0.2587 0.2873 0.17 0.5 0.2 0.25 0.2254 0.5 0.05 D 0.266 B 0.091 B 0.481 N 1.000 P 0.69 N 1.93 T -0.926 T 0.000 T 0.033 1.555 11.15 -0.099 -0.200 -1.367 4.238 1.554602 1.554602 0.02 0.154604 0.235776 NA 0.239 NA 8.7883294 773 20 18794754 18794754 C T exonic SCP2D1 NA nonsynonymous SNV SCP2D1:NM_178483:exon1:c.C295T:p.P99S exonic ENSG00000132631 NA nonsynonymous SNV ENSG00000132631:ENST00000377428:exon1:c.C295T:p.P99S NA NA 20p11.23 NA NA NA NA rs1053839 0.2 0.2 0.208 0.227436 0.1839 0.0417 0.196 0.4266 0.2168 0.18 0.07 0.19 0.39 0.1883 0.39 0.43 T 0.011 B 0.034 B 0.158 N 1.000 P 0.185 N 2.05 T -0.912 T 0.000 T 0.032 -0.005 3.991 -3.53 -0.999 0.042 6.567 -0.004557 NA 0.32 0.174419 0.377667 NA 0.283 NA 8.7867144 774 2 241463639 241463639 C T exonic ANKMY1 NA nonsynonymous SNV ANKMY1:NM_017844:exon6:c.G805A:p.E269K,ANKMY1:NM_016552:exon7:c.G1228A:p.E410K exonic ENSG00000144504 NA nonsynonymous SNV ENSG00000144504:ENST00000405002:exon5:c.G538A:p.E180K,ENSG00000144504:ENST00000536462:exon5:c.G664A:p.E222K,ENSG00000144504:ENST00000361678:exon6:c.G805A:p.E269K,ENSG00000144504:ENST00000373318:exon6:c.G805A:p.E269K,ENSG00000144504:ENST00000373320:exon6:c.G538A:p.E180K,ENSG00000144504:ENST00000403283:exon6:c.G1042A:p.E348K,ENSG00000144504:ENST00000405523:exon6:c.G805A:p.E269K,ENSG00000144504:ENST00000272972:exon7:c.G1228A:p.E410K,ENSG00000144504:ENST00000391987:exon8:c.G1228A:p.E410K,ENSG00000144504:ENST00000401804:exon8:c.G1495A:p.E499K NA NA 2q37.3 NA NA NA NA rs3796119 0.01 0.01 0.01 0.0309505 0.0129 0.0109 0.0086 NA 0.1278 0.01 0.01 0.01 NA 0.0228 0.022 0.21 T 0.988 D 0.649 P 0.712 U 1.000 N 0.345 N 4.12 T -1.038 T 0.087 T 0.194 1.702 11.65 0.356 0.071 0.616 2.765 1.702216 1.702216 0.13 0.012674 0.003177 NA 0.014 NA 8.7849594 774 3 184103903 184103903 A C exonic CHRD NA nonsynonymous SNV CHRD:NM_003741:exon15:c.A1888C:p.M630L exonic ENSG00000090539 NA nonsynonymous SNV ENSG00000090539:ENST00000545352:exon7:c.A778C:p.M260L,ENSG00000090539:ENST00000348986:exon14:c.A1768C:p.M590L,ENSG00000090539:ENST00000204604:exon15:c.A1888C:p.M630L,ENSG00000090539:ENST00000450923:exon15:c.A1888C:p.M630L Score=452;Name=lod=92 NA 3q27.1 NA NA NA NA rs16858780 0.28 0.28 0.27 0.286542 0.1511 0.3075 0.4121 0.3366 0.2474 0.15 0.35 0.36 0.35 0.2252 0.36 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.24 N 1.0 T -0.949 T 0.000 T 0.031 -1.208 0.068 1.11 0.128 1.032 5.617 -1.208173 NA 1 0.172791 0.316841 NA 0.196 NA 8.7842424 774 22 41613188 41613188 C T exonic L3MBTL2 NA synonymous SNV L3MBTL2:NM_031488:exon5:c.C582T:p.P194P exonic ENSG00000100395 NA synonymous SNV ENSG00000100395:ENST00000450939:exon4:c.C558T:p.P186P,ENSG00000100395:ENST00000216237:exon5:c.C582T:p.P194P,ENSG00000100395:ENST00000452106:exon5:c.C582T:p.P194P Score=616;Name=lod=425 NA 22q13.2 NA NA Name=22 NA rs9611519 0.23 0.23 0.173 0.240615 0.3072 0.0526 0.4625 0.1112 0.3834 0.31 0.06 0.48 0.11 0.298 0.48 . . . . . . . . 0.000 P . . . . -0.910 T 0.000 T . 2.319 13.71 0.282 0.149 -1.167 3.765 2.319041 2.319041 NA 0.278837 0.127553 ID=COSM149302;OCCURENCE=1(stomach) 0.29 NA 8.7826296 774 12 81769581 81769581 C T exonic PPFIA2 NA synonymous SNV PPFIA2:NM_001220478:exon6:c.G828A:p.L276L,PPFIA2:NM_001220477:exon7:c.G903A:p.L301L,PPFIA2:NM_001220474:exon8:c.G1071A:p.L357L,PPFIA2:NM_001220473:exon9:c.G1125A:p.L375L,PPFIA2:NM_001220475:exon9:c.G1125A:p.L375L,PPFIA2:NM_001220476:exon9:c.G1125A:p.L375L,PPFIA2:NM_003625:exon10:c.G1125A:p.L375L exonic ENSG00000139220 NA synonymous SNV ENSG00000139220:ENST00000443686:exon6:c.G828A:p.L276L,ENSG00000139220:ENST00000333447:exon7:c.G1071A:p.L357L,ENSG00000139220:ENST00000407050:exon7:c.G903A:p.L301L,ENSG00000139220:ENST00000550359:exon7:c.G666A:p.L222L,ENSG00000139220:ENST00000549325:exon8:c.G1071A:p.L357L,ENSG00000139220:ENST00000548586:exon9:c.G1125A:p.L375L,ENSG00000139220:ENST00000550584:exon9:c.G1125A:p.L375L,ENSG00000139220:ENST00000552948:exon9:c.G1125A:p.L375L,ENSG00000139220:ENST00000549396:exon10:c.G1125A:p.L375L Score=669;Name=lod=699 NA 12q21.31 NA NA NA NA rs10862301 0.44 0.44 0.446 0.445687 0.2724 0.5387 0.402 0.5673 0.3947 0.27 0.56 0.38 0.58 0.3612 0.58 . . . . . . . . 0.000 P . . . . -0.930 T 0.000 T . 0.459 6.49 -5.72 -1.195 -0.501 3.747 0.458611 NA NA 0.250853 0.468635 NA 0.435 NA 8.7822136 774 7 43483981 43483981 G C exonic HECW1 NA nonsynonymous SNV HECW1:NM_015052:exon11:c.G1210C:p.G404R exonic ENSG00000002746 NA nonsynonymous SNV ENSG00000002746:ENST00000453890:exon10:c.G1210C:p.G404R,ENSG00000002746:ENST00000395891:exon11:c.G1210C:p.G404R NA NA 7p13 NA NA NA NA rs61756574 0.1 0.1 0.077 0.0932508 0.1909 0.0089 0.1081 0.0091 0.183 0.2 0.01 0.14 0.01 0.1685 0.2 0.17 T 0.09 B 0.029 B 0.000 N 1.000 P 0.895 L 1.55 T -1.050 T 0.000 T 0.124 1.964 12.52 -3.65 -1.119 -0.043 4.083 1.96365 1.96365 0.05 0.194109 0.032567 NA 0.109 NA 8.7798244 774 7 72418963 72418963 T C exonic POM121 NA nonsynonymous SNV POM121:NM_001257190:exon16:c.T2954C:p.L985P exonic ENSG00000196313 NA nonsynonymous SNV ENSG00000196313:ENST00000446813:exon15:c.T2954C:p.L985P,ENSG00000196313:ENST00000395270:exon16:c.T2954C:p.L985P NA NA 7q11.23 NA NA NA NA rs1107 0.45 0.45 0.393 0.573083 0.5408 0.4663 0.5403 0.6823 0.592 0.44 0.39 0.54 0.48 0.5402 0.6 0.03 D 0.0 B 0.0 B . . 1.000 P . . 3.17 T -0.974 T 0.000 T 0.072 0.147 4.789 -0.506 -1.656 -1.592 4.774 0.146766 NA 0.02 0.472998 0.604641 NA 0.37 NA 8.7793354 774 5 73076511 73076511 C A exonic ARHGEF28 NA nonsynonymous SNV ARHGEF28:NM_001080479:exon7:c.C851A:p.P284Q,ARHGEF28:NM_001177693:exon7:c.C851A:p.P284Q exonic ENSG00000214944 NA nonsynonymous SNV ENSG00000214944:ENST00000426542:exon6:c.C851A:p.P284Q,ENSG00000214944:ENST00000437974:exon6:c.C851A:p.P284Q,ENSG00000214944:ENST00000287898:exon7:c.C851A:p.P284Q,ENSG00000214944:ENST00000296794:exon7:c.C851A:p.P284Q,ENSG00000214944:ENST00000513042:exon7:c.C851A:p.P284Q,ENSG00000214944:ENST00000545377:exon7:c.C851A:p.P284Q NA NA 5q13.2 NA Name=CTCF Name=22 NA rs6453022 0.56 0.56 0.553 0.577875 0.499 0.5129 0.5303 0.7269 0.5583 0.5 0.49 0.52 0.74 0.548 0.74 0.64 T 0.0 B 0.0 B . . 1.000 P -0.755 N 3.32 T -1.039 T 0.000 T 0.091 -2.361 0.004 -0.022 -0.450 1.843 0.974 -2.360585 NA 1 0.50741 0.702548 NA 0.514 NA 8.7789234 774 19 56549510 56549510 T C exonic NLRP5 NA nonsynonymous SNV NLRP5:NM_153447:exon10:c.T2735C:p.M912T exonic ENSG00000171487 NA nonsynonymous SNV ENSG00000171487:ENST00000390649:exon10:c.T2735C:p.M912T NA NA 19q13.43 NA NA NA NA rs16986899 0.27 0.27 0.28 0.264976 0.1889 0.3006 0.1398 0.4486 0.1472 0.18 0.31 0.16 0.42 0.1994 0.42 0.22 T 0.0 B 0.0 B 0.822 N 1.000 P -0.6 N 0.69 T -0.955 T 0.000 T 0.013 -0.787 0.711 -3.09 -1.137 -0.013 2.295 -0.787261 NA 0.35 0.166548 0.385511 ID=COSM148766;OCCURENCE=1(stomach) 0.304 NA 8.7784854 774 4 38774889 38774889 T C exonic TLR10 NA nonsynonymous SNV TLR10:NM_001017388:exon2:c.A2323G:p.I775V,TLR10:NM_001195106:exon3:c.A2323G:p.I775V,TLR10:NM_001195107:exon3:c.A2323G:p.I775V,TLR10:NM_001195108:exon3:c.A2281G:p.I761V,TLR10:NM_030956:exon4:c.A2323G:p.I775V exonic ENSG00000174123 NA nonsynonymous SNV ENSG00000174123:ENST00000361424:exon2:c.A2323G:p.I775V,ENSG00000174123:ENST00000506111:exon2:c.A2323G:p.I775V,ENSG00000174123:ENST00000508334:exon2:c.A2323G:p.I775V,ENSG00000174123:ENST00000308973:exon4:c.A2323G:p.I775V NA NA 4p14 NA NA NA NA rs4129009 0.19 0.19 0.202 0.146565 0.2068 0.2688 0.1398 0.0106 0.1472 0.18 0.38 0.14 0.02 0.1753 0.38 0.22 T 0.0 B 0.0 B 0.122 N 0.995 P 1.095 L 1.82 T -0.933 T 0.000 T 0.03 -0.198 3.04 -5.34 -0.961 0.012 7.169 -0.197715 NA 0.27 0.173488 0.029278 NA 0.181 NA 8.7777454 774 3 97851998 97851998 A C exonic OR5H1 NA nonsynonymous SNV OR5H1:NM_001005338:exon1:c.A457C:p.I153L exonic ENSG00000231192 NA nonsynonymous SNV ENSG00000231192:ENST00000354565:exon1:c.A457C:p.I153L NA NA 3q11.2 NA NA NA NA rs9845327 0.59 0.59 0.586 0.631789 0.5358 0.5228 0.585 0.8601 0.5675 0.51 0.55 0.51 0.84 0.5589 0.84 0.46 T 0.0 B 0.004 B 0.884 N 1.000 P -0.52 N 8.96 T -0.929 T 0.000 T 0.039 -2.165 0.005 -7.14 -4.249 -4.526 0.948 -2.165406 NA 1 0.461223 0.745062 NA 0.413 NA 8.7774104 774 21 46271452 46271452 C T UTR3 PTTG1IP NM_004339:c.*44G>A NA NA exonic ENSG00000183255 NA nonsynonymous SNV ENSG00000183255:ENST00000445724:exon3:c.G259A:p.A87T NA NA 21q22.3 NA Name=USF-1 Name=3 NA rs235314 0.43 0.43 0.429 0.434704 0.5328 0.377 0.3285 0.3268 0.6145 0.54 0.39 0.39 0.32 0.4906 0.54 0.56 T 0.001 B 0.001 B . . 1.000 P . . 0.94 T -0.911 T 0.000 T 0.045 2.365 13.86 -3.16 -0.795 -1.057 7.416 2.364568 2.364568 0.53 0.532674 0.378575 NA 0.435 NA 8.7772594 774 3 49721798 49721798 C A exonic MST1 NA synonymous SNV MST1:NM_020998:exon17:c.G1965T:p.R655R exonic ENSG00000173531 NA synonymous SNV ENSG00000173531:ENST00000449682:exon17:c.G1965T:p.R655R NA NA 3p21.31 NA NA NA NA rs13085791 0.24 0.24 0.224 0.208866 0.3241 0.0565 0.1729 0.2632 0.1994 0.33 0.06 0.23 0.3 0.2663 0.33 . . . . . . . . 0.002 P . . . . . . . . . 0.35 5.9 -5.99 -1.376 -1.124 1.691 0.3501 NA NA 0.299535 0.268724 NA 0.29 NA 8.7767316 774 16 5097947 5097947 A G exonic C16orf89 NA nonsynonymous SNV C16orf89:NM_001098514:exon7:c.T887C:p.L296S,C16orf89:NM_152459:exon7:c.T887C:p.L296S exonic ENSG00000153446 NA nonsynonymous SNV ENSG00000153446:ENST00000315997:exon7:c.T887C:p.L296S,ENSG00000153446:ENST00000350219:exon7:c.T1001C:p.L334S,ENSG00000153446:ENST00000422873:exon7:c.T1001C:p.L334S,ENSG00000153446:ENST00000472572:exon7:c.T887C:p.L296S,ENSG00000153446:ENST00000474471:exon8:c.T983C:p.L328S NA NA 16p13.3 NA NA NA NA rs1127920 0.26 0.26 0.216 0.226038 0.3678 0.2034 0.4337 0.0325 0.2178 0.37 0.2 0.39 0.04 0.3479 0.39 0.05 D 0.651 P 0.382 B 0.459 N 1.000 P 1.59 L 1.17 T -1.033 T 0.000 T 0.143 2.507 14.34 -2.84 -0.796 -0.056 1.885 2.506853 2.506853 0.03 0.342351 0.08985 NA 0.333 NA 8.7752824 775 1 40705726 40705726 A T exonic RLF NA nonsynonymous SNV RLF:NM_012421:exon8:c.A5352T:p.E1784D exonic ENSG00000117000 NA nonsynonymous SNV ENSG00000117000:ENST00000372771:exon8:c.A5352T:p.E1784D NA NA 1p34.2 NA NA NA NA rs10889205 0.15 0.15 0.153 0.148363 0.1819 0.0625 0.1671 0.2542 0.046 0.19 0.07 0.13 0.22 0.1769 0.25 0.63 T 0.0 B 0.001 B 0.076 N 1.000 P 0 N 2.59 T -1.012 T 0.000 T 0.02 -1.111 0.133 -11.7 -3.937 -3.576 9.540 -1.111075 NA 0.7 0.199767 0.22719 ID=COSM426263;OCCURENCE=1(breast) 0.254 NA 8.7747664 775 6 153315695 153315695 C T exonic MTRF1L NA nonsynonymous SNV MTRF1L:NM_001114184:exon4:c.G640A:p.V214I,MTRF1L:NM_019041:exon4:c.G640A:p.V214I exonic ENSG00000112031 NA nonsynonymous SNV ENSG00000112031:ENST00000448966:exon1:c.G232A:p.V78I,ENSG00000112031:ENST00000414771:exon2:c.G193A:p.V65I,ENSG00000112031:ENST00000367230:exon4:c.G532A:p.V178I,ENSG00000112031:ENST00000367231:exon4:c.G640A:p.V214I,ENSG00000112031:ENST00000367233:exon4:c.G640A:p.V214I Score=598;Name=lod=359 NA 6q25.2 NA NA NA NA rs3192723 0.2 0.2 0.164 0.236821 0.162 0.1498 0.3026 0.2663 0.317 0.16 0.13 0.3 0.28 0.2177 0.3 1 T 0.0 B 0.002 B 0.004 N 0.999 P -0.655 N 2.85 T -0.912 T 0.003 T 0.159 0.047 4.256 -0.015 -0.140 1.945 9.105 0.046602 NA 1 0.17907 0.248298 NA 0.225 NA 8.7745634 775 3 97983981 97983981 G A exonic OR5H6 NA nonsynonymous SNV OR5H6:NM_001005479:exon1:c.G853A:p.D285N exonic ENSG00000230301 NA nonsynonymous SNV ENSG00000230301:ENST00000383696:exon1:c.G853A:p.D285N NA NA 3q11.2 NA NA NA NA rs9871143 0.33 0.33 0.311 0.318091 0.5616 0.1319 0.3372 0.2179 0.3814 0.55 0.11 0.36 0.24 0.4431 0.56 0.05 D 0.097 B 0.16 B 0.094 N 1.000 P 1.34 L 8.67 T -1.102 T 0.000 T 0.033 0.866 8.509 2.19 1.220 0.591 6.813 0.866164 NA 0.16 0.555478 0.24966 ID=COSM149433;OCCURENCE=1(stomach),1(prostate) 0.362 NA 8.7731554 775 7 64864607 64864607 G A exonic ZNF92 NA nonsynonymous SNV ZNF92:NM_007139:exon3:c.G1373A:p.R458H,ZNF92:NM_152626:exon4:c.G1580A:p.R527H exonic ENSG00000146757 NA nonsynonymous SNV ENSG00000146757:ENST00000431504:exon2:c.G1352A:p.R451H,ENSG00000146757:ENST00000357512:exon3:c.G1484A:p.R495H,ENSG00000146757:ENST00000450302:exon3:c.G1373A:p.R458H,ENSG00000146757:ENST00000328747:exon4:c.G1580A:p.R527H Score=397;Name=lod=55 NA 7q11.21 NA NA NA NA rs10239197 0.32 0.32 0.317 0.348442 0.162 0.3145 0.4251 0.5809 0.2065 0.15 0.31 0.35 0.58 0.2346 0.58 1 T 0.0 B 0.0 B . . 1.000 P -3.17 N 3.33 T -0.970 T 0.000 T 0.089 -1.295 0.038 0.418 -0.525 3.533 4.014 -1.295299 NA 1 0.164884 0.493418 NA 0.254 NA 8.7718494 775 2 228883721 228883721 T C exonic SPHKAP NA nonsynonymous SNV SPHKAP:NM_001142644:exon7:c.A1849G:p.K617E,SPHKAP:NM_030623:exon7:c.A1849G:p.K617E exonic ENSG00000153820 NA nonsynonymous SNV ENSG00000153820:ENST00000344657:exon7:c.A1849G:p.K617E,ENSG00000153820:ENST00000392056:exon7:c.A1849G:p.K617E Score=405;Name=lod=59 NA 2q36.3 NA NA NA NA rs3811514 0.62 0.62 0.623 0.640974 0.4891 0.624 0.6585 0.7693 0.6288 0.5 0.65 0.61 0.77 0.5738 0.77 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.61 N 1.23 T -0.948 T 0.000 T 0.031 -1.043 0.203 4.05 0.389 1.423 6.185 -1.04295 NA 1 0.498953 0.737177 NA 0.63 NA 8.7714804 775 1 209782343 209782343 A G exonic CAMK1G NA synonymous SNV CAMK1G:NM_020439:exon8:c.A654G:p.P218P exonic ENSG00000008118 NA nonsynonymous SNV ENSG00000008118:ENST00000423146:exon7:c.A578G:p.H193R NA NA 1q32.2 NA NA NA NA rs11119314 0.52 0.52 0.509 0.545527 0.3867 0.5714 0.5476 0.7073 0.4622 0.37 0.57 0.49 0.71 0.4533 0.71 0 D . . . . . . 0.000 P . . -0.08 T -0.967 T 0.000 T . 0.437 6.373 -10.2 -1.907 -3.434 0.807 0.436872 NA 0.01 0.38907 0.660236 ID=COSM146752;OCCURENCE=1(stomach),1(prostate) 0.449 NA 8.77093 775 11 56468155 56468155 T G exonic OR9G1,OR9G9 NA nonsynonymous SNV OR9G1:NM_001005213:exon1:c.T292G:p.C98G,OR9G9:NM_001013358:exon1:c.T292G:p.C98G exonic ENSG00000174914 NA nonsynonymous SNV ENSG00000174914:ENST00000312153:exon1:c.T292G:p.C98G NA NA 11q12.1 NA NA NA NA rs11228732 0.28 0.28 0.234 0.361821 0.3091 0.2292 0.2507 0.6778 0.2045 0.27 0.19 0.2 0.46 0.2538 0.46 0.04 D 0.011 B 0.019 B 0.575 N 1.000 N 0.145 N 5.0 T -0.982 T 0.000 T 0.435 0.244 5.319 -1.49 -0.374 -2.671 5.727 0.244291 NA 0 NA NA NA 0.159 NA 8.7704334 775 19 52146869 52146869 C T exonic SIGLEC14 NA nonsynonymous SNV SIGLEC14:NM_001098612:exon6:c.G1069A:p.V357I exonic ENSG00000254415 NA nonsynonymous SNV ENSG00000254415:ENST00000360844:exon6:c.G1069A:p.V357I Score=325;Name=lod=28 NA 19q13.41 NA NA NA NA rs138832022 0.01 0.01 0.013 0.0091853 0.0189 0.001 0.0173 0.0023 0.0112 0.02 0.0017 0.02 0.01 0.0201 0.025 0.31 T 0.792 P 0.104 B 0.019 U 1.000 N 0.205 N 1.74 T -1.036 T 0.015 T 0.058 -0.205 3.004 1.52 0.343 -0.636 5.624 -0.205425 NA 0.05 0.024688 0.004691 NA 0.007 NA 8.7696454 775 8 22428708 22428708 A G exonic SORBS3 NA nonsynonymous SNV SORBS3:NM_001018003:exon7:c.A691G:p.T231A,SORBS3:NM_005775:exon18:c.A1717G:p.T573A exonic ENSG00000120896 NA nonsynonymous SNV ENSG00000120896:ENST00000523348:exon3:c.A550G:p.T184A,ENSG00000120896:ENST00000428103:exon7:c.A691G:p.T231A,ENSG00000120896:ENST00000523965:exon7:c.A691G:p.T231A,ENSG00000120896:ENST00000240123:exon18:c.A1717G:p.T573A NA NA 8p21.3 NA NA NA NA rs1047030 0.12 0.12 0.094 0.126198 0.2127 0.0278 0.1441 0.0643 0.2096 0.22 0.03 0.14 0.06 0.1833 0.22 0.11 T 0.0 B 0.001 B 0.563 N 0.981 P 0.455 N 3.37 T -0.938 T 0.000 T 0.341 0.03 4.169 -5.08 -0.975 -0.287 1.634 0.029859 NA 0.14 0.170414 0.074315 NA 0.101 NA 8.7669194 776 6 46135984 46135984 G T exonic ENPP5 NA nonsynonymous SNV ENPP5:NM_021572:exon2:c.C16A:p.L6I exonic ENSG00000112796 NA nonsynonymous SNV ENSG00000112796:ENST00000230565:exon2:c.C16A:p.L6I,ENSG00000112796:ENST00000371383:exon3:c.C16A:p.L6I NA NA 6p21.1 NA NA NA NA rs3806995 0.42 0.42 0.406 0.444289 0.5298 0.4494 0.4467 0.1899 0.6933 0.53 0.4 0.49 0.19 0.5167 0.53 0.22 T 0.008 B 0.008 B 0.622 N 1.000 P 0.55 N -0.86 T -1.036 T 0.106 T 0.072 0.319 5.728 3.41 1.305 1.068 5.357 0.318747 NA 0.13 0.521959 0.228108 NA 0.406 NA 8.7648744 776 5 148207447 148207447 G C exonic ADRB2 NA synonymous SNV ADRB2:NM_000024:exon1:c.G1053C:p.G351G exonic ENSG00000169252 NA synonymous SNV ENSG00000169252:ENST00000305988:exon1:c.G1053C:p.G351G Score=454;Name=lod=93 NA 5q32 Score=864;Name=V$IK1_01 Name=c-Fos Name=31 NA rs1042719 0.36 0.36 0.357 0.374201 0.2793 0.4772 0.3516 0.3533 0.41 0.28 0.48 0.33 0.34 0.3379 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117764 NA NA 0.286977 0.352701 NA 0.225 NA 8.7624896 776 6 147635413 147635413 A G exonic STXBP5 NA nonsynonymous SNV STXBP5:NM_001127715:exon13:c.A1307G:p.N436S,STXBP5:NM_139244:exon13:c.A1307G:p.N436S exonic ENSG00000164506 NA nonsynonymous SNV ENSG00000164506:ENST00000179882:exon13:c.A320G:p.N107S,ENSG00000164506:ENST00000321680:exon13:c.A1307G:p.N436S,ENSG00000164506:ENST00000367480:exon13:c.A1307G:p.N436S,ENSG00000164506:ENST00000367481:exon13:c.A1307G:p.N436S Score=603;Name=lod=375 NA 6q24.3 Score=936;Name=V$CDPCR3HD_01 NA NA NA rs1039084 0.44 0.44 0.433 0.457069 0.5229 0.2937 0.5375 0.4251 0.544 0.53 0.3 0.5 0.42 0.5062 0.54 1 T 0.0 B 0.001 B 0.000 N 0.000 P -0.805 N 1.62 T -0.997 T 0.021 T 0.009 -0.082 3.599 1.08 0.200 3.391 7.001 -0.08206 NA 1 0.541744 0.431684 NA 0.406 NA 8.7624894 776 9 116224374 116224374 G T exonic RGS3 NA nonsynonymous SNV RGS3:NM_144488:exon4:c.G308T:p.G103V exonic ENSG00000138835 NA nonsynonymous SNV ENSG00000138835:ENST00000350696:exon3:c.G308T:p.G103V,ENSG00000138835:ENST00000374140:exon4:c.G308T:p.G103V NA NA 9q32 NA Name=HNF4A_(H-171) NA NA rs113565749 0.02 0.02 0.013 0.00958466 0.0278 NA 0.0216 0.0023 0.002 0.03 NA 0.02 0.01 0.0168 0.03 0.09 T 0.745 P 0.119 B 0.492 N 1.000 N 0.55 N 0.88 T -1.053 T 0.022 T 0.177 1.268 10.14 1.04 0.105 -0.015 6.184 1.267558 1.267558 0 0.026409 0.005414 NA 0.014 NA 8.7623244 776 19 58370727 58370727 T G exonic ZNF587 NA nonsynonymous SNV ZNF587:NM_001204817:exon3:c.T944G:p.L315R,ZNF587:NM_032828:exon3:c.T947G:p.L316R exonic ENSG00000198466 NA nonsynonymous SNV ENSG00000198466:ENST00000419854:exon2:c.T818G:p.L273R,ENSG00000198466:ENST00000339656:exon3:c.T947G:p.L316R,ENSG00000198466:ENST00000423137:exon3:c.T944G:p.L315R NA NA 19q13.43 NA NA NA NA rs71354064 0.31 0.31 0.19 0.288538 0.2803 0.4087 0.3775 0.2421 0.1728 0.25 0.46 0.33 0.21 0.2918 0.46 1 T 0.0 B 0.0 B . . 1.000 N -1.145 N 2.7 T -0.945 T 0.000 T 0.102 -2.985 0.001 0.675 -1.268 -2.624 5.214 -2.984521 NA 1 NA NA NA 0.109 NA 8.7612334 776 6 26107790 26107790 G T exonic HIST1H1T NA nonsynonymous SNV HIST1H1T:NM_005323:exon1:c.C532A:p.Q178K exonic ENSG00000187475 NA nonsynonymous SNV ENSG00000187475:ENST00000338379:exon1:c.C532A:p.Q178K NA NA 6p22.2 NA NA NA NA rs198845 0.24 0.24 0.238 0.244409 0.3708 0.1319 0.304 0.1059 0.3753 0.39 0.1 0.31 0.12 0.3313 0.39 0.92 T 0.483 P 0.162 B 0.420 U 1.000 P 0 N 3.81 T -0.992 T 0.003 T 0.098 0.703 7.748 4.17 2.656 0.731 14.822 0.702736 NA 0.66 0.371512 0.164321 NA 0.297 NA 8.7597214 776 18 56204991 56204991 C T exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.G2428A:p.G810S exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G2428A:p.G810S NA NA 18q21.32 Score=839;Name=V$RFX1_01 Name=Pol2-4H8,POU2F2,Pol2,Oct-2 NA NA rs3809970 0.44 0.44 0.433 0.403554 0.5716 0.2361 0.4265 0.4312 0.3497 0.59 0.24 0.51 0.38 0.469 0.59 0.15 T 0.94 P 0.534 P 0.171 N 1.000 P 1.59 L 0.64 T -0.949 T 0.000 T 0.037 2.013 12.69 1.65 0.021 0.230 2.451 2.012911 2.012911 0 0.533721 0.450068 NA 0.529 NA 8.7590124 776 4 10022981 10022981 C T exonic SLC2A9 NA nonsynonymous SNV SLC2A9:NM_020041:exon1:c.G73A:p.G25R exonic ENSG00000109667 NA nonsynonymous SNV ENSG00000109667:ENST00000264784:exon1:c.G73A:p.G25R NA NA 4p16.1 NA Name=TBP Name=60 NA rs2276961 0.42 0.42 0.41 0.407348 0.5278 0.4177 0.4395 0.149 0.5992 0.55 0.44 0.47 0.17 0.5103 0.55 . . 0.013 B 0.002 B 0.000 N 1.000 P 0 N -1.52 D -0.985 T 0.000 T 0.06 1.466 10.85 -0.398 -0.155 -0.132 3.668 1.465567 1.465567 0 0.536977 0.216069 ID=COSM149645;OCCURENCE=1(stomach) 0.362 NA 8.7582564 776 14 20850093 20850093 C T exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon30:c.G4403A:p.C1468Y exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000555008:exon18:c.G2432A:p.C811Y,ENSG00000129566:ENST00000556935:exon28:c.G4079A:p.C1360Y,ENSG00000129566:ENST00000262715:exon30:c.G4403A:p.C1468Y,ENSG00000129566:ENST00000555727:exon30:c.G4403A:p.C1468Y Score=461;Name=lod=100 NA 14q11.2 NA NA NA NA rs1713456 0.22 0.22 0.239 0.239217 0.1889 0.0992 0.1888 0.4448 0.1933 0.2 0.09 0.2 0.43 0.2036 0.43 1 T 0.0 B 0.0 B 0.032 N 0.000 P -1.935 N 1.01 T -0.928 T 0.000 T 0.301 -0.756 0.8 3.82 0.325 0.613 4.646 -0.755646 NA 1 0.183605 0.379483 NA 0.181 NA 8.7572284 776 5 168180081 168180081 C T exonic SLIT3 NA nonsynonymous SNV SLIT3:NM_001271946:exon18:c.G1852A:p.G618S,SLIT3:NM_003062:exon18:c.G1852A:p.G618S exonic ENSG00000184347 NA nonsynonymous SNV ENSG00000184347:ENST00000332966:exon18:c.G1852A:p.G618S,ENSG00000184347:ENST00000404867:exon18:c.G1852A:p.G618S,ENSG00000184347:ENST00000519560:exon18:c.G1852A:p.G618S Score=512;Name=lod=160 NA 5q34 NA NA NA NA rs10036727 0.56 0.56 0.581 0.570887 0.5258 0.5258 0.5072 0.705 0.5276 0.52 0.57 0.51 0.67 0.5383 0.69 1 T 0.0 B 0.001 B 0.000 N 0.999 P -1.18 N 0.48 T -0.935 T 0.000 T 0.247 1.339 10.4 5.34 0.879 6.302 11.250 1.339436 1.339436 1 0.512907 0.694281 NA 0.63 NA 8.7563264 776 7 90014408 90014408 G A exonic GTPBP10 NA nonsynonymous SNV GTPBP10:NM_001042717:exon8:c.G867A:p.M289I,GTPBP10:NM_033107:exon10:c.G1104A:p.M368I exonic ENSG00000105793 NA nonsynonymous SNV ENSG00000105793:ENST00000257659:exon8:c.G867A:p.M289I,ENSG00000105793:ENST00000222511:exon10:c.G1104A:p.M368I NA NA 7q21.13 NA NA NA NA rs17863999 0.17 0.17 0.169 0.1873 0.1859 0.1101 0.2017 0.2216 0.2117 0.18 0.12 0.2 0.18 0.1862 0.23 . . 0.0 B 0.0 B 0.013 N 1.000 P -0.755 N 2.87 T -0.988 T 0.000 T 0.007 -0.754 0.806 -3.82 -1.363 -0.043 7.110 -0.75369 NA 0.57 0.205349 0.22719 NA 0.21 NA 8.7558844 777 22 18300594 18300594 G A exonic MICAL3 NA synonymous SNV MICAL3:NM_015241:exon26:c.C4833T:p.D1611D exonic ENSG00000243156 NA synonymous SNV ENSG00000243156:ENST00000441493:exon26:c.C4833T:p.D1611D NA NA 22q11.21 NA NA NA NA rs11704160 0.17 0.17 0.152 0.151158 0.3171 0.0863 0.1859 0.028 0.1892 0.3 0.08 0.2 0.04 0.2671 0.33 . . . . . . . . 0.000 P . . . . -0.925 T 0.000 T . 0.607 7.269 -9.8 -2.868 -1.313 21.818 0.606705 NA NA 0.328673 0.071151 NA 0.138 NA 8.7537936 777 1 15832543 15832543 T C exonic CASP9 NA nonsynonymous SNV CASP9:NM_001229:exon5:c.A662G:p.Q221R,CASP9:NM_032996:exon5:c.A413G:p.Q138R exonic ENSG00000132906 NA nonsynonymous SNV ENSG00000132906:ENST00000333868:exon5:c.A662G:p.Q221R,ENSG00000132906:ENST00000375890:exon5:c.A413G:p.Q138R,ENSG00000132906:ENST00000447522:exon5:c.A413G:p.Q138R,ENSG00000132906:ENST00000546424:exon5:c.A662G:p.Q221R NA NA 1p36.21 NA NA NA NA rs1052576 0.6 0.6 0.607 0.584864 0.5149 0.6538 0.4986 0.7398 0.4376 0.54 0.63 0.5 0.74 0.5369 0.74 1 T 0.0 B 0.001 B 0.128 N 0.391 P -0.52 N 2.1 T -0.917 T 0.000 T 0.32 0.441 6.397 -9.49 -2.385 -1.738 15.897 0.441447 NA 0.55 0.52814 0.703813 NA 0.406 NA 8.7533934 777 19 35718938 35718938 C T exonic FAM187B NA nonsynonymous SNV FAM187B:NM_152481:exon1:c.G646A:p.V216I exonic ENSG00000177558 NA nonsynonymous SNV ENSG00000177558:ENST00000324675:exon1:c.G646A:p.V216I NA NA 19q13.12 NA NA NA NA rs564117 0.15 0.15 0.157 0.172324 0.2008 0.0188 0.1354 0.2716 0.1933 0.19 0.01 0.17 0.25 0.1844 0.26 0.92 T 0.102 B 0.02 B 0.480 N 1.000 P -0.145 N 1.93 T -1.022 T 0.000 T 0.025 0.492 6.67 -10.0 -1.365 -2.444 4.783 0.492149 NA 1 0.195233 0.263504 ID=COSM1392802;OCCURENCE=1(large_intestine) 0.123 NA 8.7529004 777 11 130784694 130784694 C T exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon1:c.G1141A:p.G381S exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000265909:exon1:c.G1141A:p.G381S,ENSG00000120451:ENST00000533214:exon1:c.G1141A:p.G381S Score=449;Name=lod=89 NA 11q24.3 NA NA NA NA rs61736758 0.14 0.14 0.135 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.21 0.17 0.1 0.05 0.1743 0.21 0.66 T 0.028 B 0.007 B 0.856 N 0.000 P -0.145 N 2.3 T -0.905 T 0.000 T 0.076 1.824 12.06 -2.47 -0.858 -0.006 11.392 1.824359 1.824359 0.37 0.207936 0.071331 NA 0.217 NA 8.7522974 777 15 52901283 52901283 T C exonic FAM214A NA nonsynonymous SNV FAM214A:NM_019600:exon6:c.A1828G:p.T610A exonic ENSG00000047346 NA nonsynonymous SNV ENSG00000047346:ENST00000399202:exon5:c.A1564G:p.T522A,ENSG00000047346:ENST00000546305:exon5:c.A1849G:p.T617A,ENSG00000047346:ENST00000261844:exon6:c.A1828G:p.T610A,ENSG00000047346:ENST00000534964:exon6:c.A1828G:p.T610A NA NA 15q21.3 NA NA NA NA rs61731670 0.35 0.35 0.395 0.430711 0.167 0.8482 0.2968 0.4402 0.3538 0.12 0.74 0.24 0.32 0.265 0.74 0.29 T 0.002 B 0.01 B 0.000 N 1.000 P 0 N 1.53 T -1.028 T 0.000 T 0.096 -0.69 1.003 2.07 0.452 1.242 5.286 -0.690316 NA 0.09 0.150809 0.363488 NA NA NA 8.7505244 777 11 117222592 117222592 G A exonic CEP164 NA nonsynonymous SNV CEP164:NM_001271933:exon4:c.G281A:p.S94N,CEP164:NM_014956:exon5:c.G281A:p.S94N exonic ENSG00000110274 NA nonsynonymous SNV ENSG00000110274:ENST00000533153:exon3:c.G143A:p.S48N,ENSG00000110274:ENST00000525416:exon4:c.G143A:p.S48N,ENSG00000110274:ENST00000533570:exon4:c.G281A:p.S94N,ENSG00000110274:ENST00000278935:exon5:c.G281A:p.S94N,ENSG00000110274:ENST00000525734:exon5:c.G281A:p.S94N,ENSG00000110274:ENST00000527609:exon5:c.G281A:p.S94N Score=521;Name=lod=174 NA 11q23.3 NA NA NA NA rs490262 0.19 0.19 0.191 0.210264 0.174 0.1151 0.2594 0.2595 0.2444 0.16 0.11 0.26 0.29 0.2091 0.29 1 T 0.0 B 0.001 B 0.008 N 1.000 P -1.245 N 0.1 T -1.007 T 0.000 T 0.154 0.901 8.664 3.69 0.527 0.872 9.037 0.901215 NA 1 0.199953 0.275102 NA 0.188 NA 8.7502804 777 1 248458760 248458760 C A exonic OR2T12 NA nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G121T:p.A41S exonic ENSG00000177201 NA nonsynonymous SNV ENSG00000177201:ENST00000317996:exon1:c.G121T:p.A41S NA NA 1q44 NA NA NA NA rs12135684 0.24 0.24 0.159 0.251198 0.1849 0.3591 0.2651 0.1316 0.3599 0.2 0.35 0.24 0.17 0.2192 0.35 0.74 T 0.001 B 0.008 B 0.306 U 1.000 P 0.365 N 5.54 T -1.028 T 0.000 T 0.091 0.228 5.228 -3.09 -0.223 -7.823 6.168 0.22759 NA 0.81 0.181395 0.131866 ID=COSM1341134;OCCURENCE=1(large_intestine) 0.043 NA 8.7478384 778 8 87679303 87679303 A C exonic CNGB3 NA nonsynonymous SNV CNGB3:NM_019098:exon6:c.T702G:p.C234W exonic ENSG00000170289 NA nonsynonymous SNV ENSG00000170289:ENST00000320005:exon6:c.T702G:p.C234W Score=513;Name=lod=162 NA 8q21.3 NA NA NA NA rs6471482 0.93 0.93 0.94 0.957468 0.8608 0.999 0.9294 0.9947 0.9836 0.85 1 0.91 0.99 0.8946 1 1 T 0.0 B 0.0 B 0.000 N 0.002 P -2.865 N 2.98 T -0.938 T 0.000 T 0.2 0.716 7.812 5.55 1.359 4.933 15.985 0.715903 NA 1 0.833488 0.966636 NA 0.971 NA 8.7444454 778 3 124746049 124746049 A G exonic HEG1 NA nonsynonymous SNV HEG1:NM_020733:exon3:c.T913C:p.S305P exonic ENSG00000173706 NA nonsynonymous SNV ENSG00000173706:ENST00000311127:exon3:c.T913C:p.S305P NA NA 3q21.2 NA NA NA NA rs2981546 0.47 0.47 0.465 0.488818 0.5457 0.4782 0.4755 0.3744 0.6053 0.55 0.49 0.47 0.36 0.5389 0.55 . . 0.011 B 0.007 B . . 1.000 P 0.665 N 0.86 T -0.975 T 0.000 T 0.117 1.422 10.69 -9.56 -1.952 -1.905 4.513 1.421656 1.421656 0.01 0.504695 0.361223 NA 0.399 NA 8.7440384 778 4 68829109 68829109 C T exonic TMPRSS11A NA nonsynonymous SNV TMPRSS11A:NM_001114387:exon1:c.G3A:p.M1I,TMPRSS11A:NM_182606:exon1:c.G3A:p.M1I exonic ENSG00000187054 NA nonsynonymous SNV ENSG00000187054:ENST00000334830:exon1:c.G3A:p.M1I,ENSG00000187054:ENST00000396188:exon1:c.G3A:p.M1I NA NA 4q13.2 NA NA NA NA rs977728 0.2 0.2 0.17 0.203275 0.2177 0.1835 0.3473 0.115 0.226 0.21 0.19 0.3 0.11 0.207 0.3 0.05 D 0.0 B 0.001 B 0.010 N 0.000 P . . -2.32 D -1.051 T 0.000 T 0.176 -1.548 0.015 1.27 0.133 -0.011 5.866 -1.54785 NA 0.2 0.165698 0.134135 ID=COSM149683;OCCURENCE=1(stomach) 0.145 NA 8.7429354 778 7 76069811 76069811 T C exonic ZP3 NA nonsynonymous SNV ZP3:NM_001110354:exon7:c.T943C:p.S315P,ZP3:NM_007155:exon8:c.T790C:p.S264P exonic ENSG00000188372 NA nonsynonymous SNV ENSG00000188372:ENST00000416245:exon6:c.T415C:p.S139P,ENSG00000188372:ENST00000394857:exon7:c.T943C:p.S315P,ENSG00000188372:ENST00000336517:exon8:c.T790C:p.S264P NA NA 7q11.23 NA NA NA NA rs2906999 0.5 0.5 0.44 0.591054 0.5209 0.5427 0.5908 0.6558 0.6258 0.46 0.48 0.52 0.59 0.5636 0.6 0.92 T 0.0 B 0.0 B 0.648 N 1.000 P -0.87 N 2.77 T -0.958 T 0.000 T 0.346 -1.174 0.087 -7.74 -2.339 -1.059 1.131 -1.174174 NA 1 0.506163 0.599637 NA 0.007 NA 8.7426704 778 17 39383012 39383012 C T exonic KRTAP9-2 NA nonsynonymous SNV KRTAP9-2:NM_031961:exon1:c.C106T:p.P36S exonic ENSG00000239886 NA nonsynonymous SNV ENSG00000239886:ENST00000377721:exon1:c.C106T:p.P36S,ENSG00000239886:ENST00000455970:exon1:c.C106T:p.P36S Score=448;Name=lod=88 NA 17q21.2 NA NA NA NA rs9903833 0.55 0.55 0.49 NA NA NA NA NA NA 0.55 0.52 0.63 0.53 0.5907 0.63 1 T 0.072 B 0.026 B . . 0.997 P -0.74 N 5.57 T -1.057 T 0.000 T 0.189 0.589 7.176 0.535 0.134 -2.240 7.736 0.588686 NA 0.45 NA NA NA 0.087 NA 8.7426334 778 7 141672705 141672705 G A exonic TAS2R38 NA nonsynonymous SNV TAS2R38:NM_176817:exon1:c.C785T:p.A262V exonic ENSG00000257138 NA nonsynonymous SNV ENSG00000257138:ENST00000547270:exon1:c.C785T:p.A262V NA NA 7q34 NA NA NA NA rs1726866 0.41 0.41 0.422 0.425519 0.5388 0.3244 0.2853 0.3328 0.638 0.55 0.35 0.34 0.31 0.5075 0.55 0.05 D 0.097 B 0.117 B 0.041 N 1.000 P 1.75 L 1.22 T -0.947 T 0.000 T 0.157 0.924 8.762 2.94 0.712 0.902 6.582 0.923749 NA 0.07 0.544535 0.341353 ID=COSM150406;OCCURENCE=1(stomach) 0.464 CLINSIG=drug-response;CLNDBN=Phenylthiocarbamide_tasting;CLNREVSTAT=single;CLNACC=RCV000003039.1;CLNDSDB=MedGen;CLNDSDBID=C1868398 8.7424984 778 20 31812923 31812923 G A exonic BPIFA3 NA nonsynonymous SNV BPIFA3:NM_001042439:exon3:c.G298A:p.V100I,BPIFA3:NM_178466:exon4:c.G406A:p.V136I exonic ENSG00000131059 NA nonsynonymous SNV ENSG00000131059:ENST00000375452:exon3:c.G298A:p.V100I,ENSG00000131059:ENST00000375454:exon4:c.G406A:p.V136I NA NA 20q11.21 NA NA NA NA rs3818222 0.65 0.65 0.659 0.664337 0.5229 0.8115 0.428 0.789 0.6575 0.53 0.81 0.46 0.77 0.5585 0.81 1 T 0.0 B 0.001 B 0.622 N 1.000 P -0.55 N 3.55 T -0.999 T 0.000 T 0.021 -1.056 0.188 -5.46 -1.846 -1.653 4.461 -1.055829 NA 0.86 0.509535 0.72719 NA 0.659 NA 8.7423984 778 3 49455330 49455330 C T exonic AMT NA synonymous SNV AMT:NM_001164710:exon7:c.G822A:p.R274R,AMT:NM_001164711:exon7:c.G786A:p.R262R,AMT:NM_000481:exon8:c.G954A:p.R318R,AMT:NM_001164712:exon8:c.G954A:p.R318R exonic ENSG00000145020 NA synonymous SNV ENSG00000145020:ENST00000430521:exon7:c.G786A:p.R262R,ENSG00000145020:ENST00000458307:exon7:c.G822A:p.R274R,ENSG00000145020:ENST00000538581:exon7:c.G786A:p.R262R,ENSG00000145020:ENST00000273588:exon8:c.G954A:p.R318R,ENSG00000145020:ENST00000395338:exon8:c.G954A:p.R318R,ENSG00000145020:ENST00000546031:exon8:c.G663A:p.R221R Score=536;Name=lod=201 NA 3p21.31 NA NA NA NA rs11715915 0.23 0.23 0.211 0.201278 0.336 0.0734 0.17 0.2126 0.2014 0.34 0.09 0.22 0.25 0.2748 0.34 . . . . . . . . 0.000 P . . . . -0.963 T 0.000 T . 1.059 9.326 2.73 1.011 0.849 6.953 1.059402 NA NA 0.313605 0.240808 NA 0.275 NA 8.7422616 778 14 53098902 53098902 G A exonic GPR137C NA nonsynonymous SNV GPR137C:NM_001099652:exon4:c.G742A:p.V248I exonic ENSG00000180998 NA nonsynonymous SNV ENSG00000180998:ENST00000321662:exon4:c.G742A:p.V248I NA NA 14q22.1 NA NA NA NA rs762063 0.46 0.46 0.444 0.41234 0.5626 0.4157 0.5288 0.2458 0.3967 0.57 0.44 0.54 0.25 0.4967 0.57 0.22 T 0.017 B 0.003 B 0.001 N 1.000 P 0.97 L 0.95 T -0.931 T 0.000 T 0.146 1.778 11.91 3.32 1.149 3.034 7.554 1.778467 1.778467 0.38 0.531788 0.285526 NA 0.428 NA 8.7422454 778 10 44053013 44053013 G C exonic ZNF239 NA nonsynonymous SNV ZNF239:NM_001099283:exon2:c.C515G:p.A172G,ZNF239:NM_005674:exon2:c.C515G:p.A172G,ZNF239:NM_001099284:exon3:c.C515G:p.A172G,ZNF239:NM_001099282:exon4:c.C515G:p.A172G exonic ENSG00000196793 NA nonsynonymous SNV ENSG00000196793:ENST00000306006:exon2:c.C515G:p.A172G,ENSG00000196793:ENST00000535642:exon2:c.C515G:p.A172G,ENSG00000196793:ENST00000426961:exon3:c.C515G:p.A172G,ENSG00000196793:ENST00000374446:exon4:c.C515G:p.A172G NA NA 10q11.21 NA Name=SETDB1 NA NA rs2230660 0.52 0.52 0.518 NA NA NA NA NA NA 0.55 0.57 0.48 0.45 0.5572 0.58 0.02 D 0.501 P 0.118 B . . 1.000 P 1.15 L 3.31 T -0.992 T 0.000 T 0.053 2.569 14.55 0.271 0.051 -0.510 4.344 2.569341 2.569341 0.08 0.535809 0.528133 NA 0.543 NA 8.7403244 778 6 32629809 32629809 C T exonic HLA-DQB1 NA nonsynonymous SNV HLA-DQB1:NM_001243961:exon3:c.G596A:p.R199H,HLA-DQB1:NM_002123:exon3:c.G596A:p.R199H exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000399082:exon2:c.G326A:p.R109H,ENSG00000179344:ENST00000374943:exon3:c.G596A:p.R199H,ENSG00000179344:ENST00000399079:exon3:c.G596A:p.R199H,ENSG00000179344:ENST00000434651:exon3:c.G596A:p.R199H,ENSG00000179344:ENST00000399084:exon4:c.G596A:p.R199H NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs701564 0.22 0.22 0.215 0.240815 0.1809 0.3135 0.2017 0.1997 0.3108 0.17 0.32 0.21 0.2 0.2176 0.32 0.05 D 0.006 B 0.004 B 0.004 N 1.000 P . . 4.08 T -0.924 T 0.004 T 0.263 -0.779 0.734 -1.67 -0.872 -0.443 10.097 -0.778745 NA 0.13 0.195 0.18188 ID=COSM328184;OCCURENCE=1(pancreas) 0.022 NA 8.7398334 778 10 101563815 101563815 G A exonic ABCC2 NA nonsynonymous SNV ABCC2:NM_000392:exon10:c.G1249A:p.V417I exonic ENSG00000023839 NA nonsynonymous SNV ENSG00000023839:ENST00000370449:exon10:c.G1249A:p.V417I NA NA 10q24.2 NA NA NA NA rs2273697 0.17 0.17 0.185 0.186502 0.2038 0.0962 0.1585 0.1891 0.2781 0.2 0.13 0.16 0.2 0.1953 0.2 0.15 T 0.008 B 0.032 B 0.157 N 0.014 P 0.49 N -2.76 D -1.097 T 0.001 T 0.012 1.904 12.32 -10.3 -1.996 -0.363 20.178 1.903578 1.903578 0.17 0.194767 0.187018 ID=COSM1179584;OCCURENCE=1(prostate) 0.138 NA 8.7394664 778 6 32609126 32609126 T C exonic HLA-DQA1 NA nonsynonymous SNV HLA-DQA1:NM_002122:exon2:c.T122C:p.F41S exonic ENSG00000196735 NA nonsynonymous SNV ENSG00000196735:ENST00000343139:exon2:c.T122C:p.F41S,ENSG00000196735:ENST00000374949:exon2:c.T122C:p.F41S,ENSG00000196735:ENST00000395363:exon2:c.T122C:p.F41S,ENSG00000196735:ENST00000496318:exon2:c.T122C:p.F41S Score=259;Name=lod=15 NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1071630 0.57 0.57 0.48 0.553115 0.5964 0.5446 0.6974 0.5076 0.4765 0.58 0.56 0.68 0.47 0.5567 0.68 1 T 0.001 B 0.005 B 0.020 N 0.992 P -3.11 N 5.32 T -1.059 T 0.000 T 0.69 -0.859 0.529 2.95 0.401 0.696 6.679 -0.858787 NA 1 0.440882 0.388334 NA 0.319 NA 8.7393514 778 10 72289778 72289778 C T exonic PALD1 NA nonsynonymous SNV PALD1:NM_014431:exon4:c.C422T:p.S141L exonic ENSG00000107719 NA nonsynonymous SNV ENSG00000107719:ENST00000263563:exon4:c.C422T:p.S141L NA NA 10q22.1 Score=752;Name=V$LUN1_01 NA NA NA rs2275060 0.17 0.17 0.149 0.127995 0.2147 0.2173 0.1816 0.0113 0.0665 0.23 0.23 0.16 0.01 0.1795 0.23 0.39 T 0.0 B 0.004 B 0.558 N 1.000 P 0.835 L 1.2 T -0.981 T 0.000 T 0.032 1.266 10.13 -4.24 -0.596 -0.330 2.882 1.266029 1.266029 0.29 0.2 0.043123 NA 0.101 NA 8.7391334 778 16 847743 847743 C T exonic CHTF18 NA nonsynonymous SNV CHTF18:NM_022092:exon21:c.C2783T:p.P928L exonic ENSG00000127586 NA nonsynonymous SNV ENSG00000127586:ENST00000455171:exon20:c.C2867T:p.P956L,ENSG00000127586:ENST00000262315:exon21:c.C2783T:p.P928L,ENSG00000127586:ENST00000317063:exon23:c.C3410T:p.P1137L NA NA 16p13.3 Score=932;Name=V$IK2_01 NA NA NA rs2294451 0.17 0.17 0.154 0.151757 0.1958 0.245 0.147 0.0144 0.1994 0.2 0.26 0.16 0.03 0.1914 0.26 0.2 T 0.004 B 0.002 B 0.052 N 1.000 P 1.24 L 2.78 T -0.943 T 0.000 T 0.049 1.019 9.164 0.291 -0.182 -2.115 8.234 1.019354 NA 0.08 0.208434 0.036453 NA 0.116 NA 8.7376994 778 12 52844265 52844265 T C exonic KRT6B NA nonsynonymous SNV KRT6B:NM_005555:exon2:c.A680G:p.N227S exonic ENSG00000185479 NA nonsynonymous SNV ENSG00000185479:ENST00000252252:exon2:c.A680G:p.N227S NA NA 12q13.13 NA NA NA NA rs652423 0.35 0.35 0.337 NA NA NA NA NA NA 0.3 0.42 0.3 0.39 0.2915 0.42 1 T 0.025 B 0.03 B 0.283 N 1.000 P -1.065 N -2.7 D -1.068 T 0.000 T 0.018 -1.579 0.014 -1.87 -0.421 -1.048 5.590 -1.578709 NA 1 0.304419 0.330232 NA 0.268 NA 8.7374144 778 6 32634369 32634369 C A exonic HLA-DQB1 NA nonsynonymous SNV HLA-DQB1:NM_001243961:exon1:c.G16T:p.A6S,HLA-DQB1:NM_002123:exon1:c.G16T:p.A6S exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000374943:exon1:c.G16T:p.A6S,ENSG00000179344:ENST00000399079:exon1:c.G16T:p.A6S,ENSG00000179344:ENST00000399082:exon1:c.G16T:p.A6S,ENSG00000179344:ENST00000434651:exon1:c.G16T:p.A6S,ENSG00000179344:ENST00000484729:exon1:c.G16T:p.A6S,ENSG00000179344:ENST00000399084:exon2:c.G16T:p.A6S NA NA 6p21.32 NA Name=RFX5_(N-494),Pol2,Pol2-4H8,TAF1,POU2F2,NFKB,Oct-2 NA NA rs1049056 0.21 0.21 0.172 0.214058 0.2008 0.2411 0.1527 0.2322 0.2188 0.23 0.16 0.19 0.25 0.2169 0.25 0.05 D 0.214 B 0.056 B 0.189 U 1.000 P 1.275 L 6.02 T -0.934 T 0.006 T 0.328 1.624 11.39 -0.028 0.070 0.222 3.240 1.624062 1.624062 0.02 0.179878 0.208463 NA 0.159 NA 8.7357554 779 2 86317037 86317037 G C exonic POLR1A NA nonsynonymous SNV POLR1A:NM_015425:exon4:c.C448G:p.P150A exonic ENSG00000068654 NA nonsynonymous SNV ENSG00000068654:ENST00000409024:exon2:c.C93G:p.I31M,ENSG00000068654:ENST00000424089:exon2:c.C93G:p.I31M,ENSG00000068654:ENST00000263857:exon4:c.C448G:p.P150A,ENSG00000068654:ENST00000409681:exon4:c.C448G:p.P150A Score=454;Name=lod=93 NA 2p11.2 NA NA NA NA rs4832242 0.76 0.76 0.739 0.754992 0.8698 0.753 0.8473 0.5113 0.9029 0.87 0.77 0.87 0.49 0.8496 0.88 0.94 T 0.009 B 0.01 B 0.052 N 1.000 P 0.19 N 2.1 T -0.994 T 0.000 T 0.037 -0.396 2.142 -5.44 -1.809 -1.423 11.261 -0.396452 NA 0.62 0.879289 0.587293 NA 0.768 NA 8.7346444 779 12 80747209 80747209 C G exonic OTOGL NA nonsynonymous SNV OTOGL:NM_173591:exon45:c.C5485G:p.L1829V exonic ENSG00000165899 NA nonsynonymous SNV ENSG00000165899:ENST00000458043:exon45:c.C5485G:p.L1829V,ENSG00000165899:ENST00000547103:exon45:c.C5449G:p.L1817V NA NA 12q21.31 NA Name=ERalpha_a,GATA-2,ELF1_(SC-631) Name=77 NA rs7312569 0.15 0.15 0.146 0.173323 0.1819 0.0575 0.2075 0.1846 0.2444 0.18 0.05 0.21 0.17 0.2233 0.21 0.26 T . . . . . . 0.000 P 1.41 L 0.54 T -1.061 T 0.000 T 0.248 0.351 5.903 0.452 -0.156 0.246 3.083 0.350723 NA 0.11 0.195395 0.177046 NA 0.08 NA 8.7327384 779 6 30131546 30131546 A G exonic TRIM15 NA nonsynonymous SNV TRIM15:NM_033229:exon1:c.A85G:p.I29V exonic ENSG00000204610 NA nonsynonymous SNV ENSG00000204610:ENST00000376688:exon1:c.A85G:p.I29V,ENSG00000204610:ENST00000376694:exon1:c.A85G:p.I29V NA NA 6p22.1 Score=821;Name=V$ATF_01 Name=TAF1 NA NA rs17194460 0.21 0.21 0.177 0.238618 0.2038 0.3929 0.1383 0.0787 0.4029 0.2 0.35 0.16 0.07 0.2135 0.35 0.35 T 0.0 B 0.001 B 0.293 N 1.000 P 0.56 N 2.28 T -0.962 T 0.008 T 0.042 -0.361 2.296 0.228 -0.096 -0.785 0.908 -0.361285 NA 0.36 0.186047 0.093709 NA 0.275 NA 8.7299864 779 19 54782407 54782407 C T exonic LILRB2 NA nonsynonymous SNV LILRB2:NM_001080978:exon7:c.G965A:p.R322H,LILRB2:NM_005874:exon7:c.G965A:p.R322H exonic ENSG00000131042 NA nonsynonymous SNV ENSG00000131042:ENST00000391746:exon6:c.G965A:p.R322H,ENSG00000131042:ENST00000434421:exon6:c.G617A:p.R206H,ENSG00000131042:ENST00000314446:exon7:c.G965A:p.R322H,ENSG00000131042:ENST00000391748:exon7:c.G965A:p.R322H,ENSG00000131042:ENST00000391749:exon7:c.G965A:p.R322H NA NA 19q13.42 NA NA NA NA rs1128646 0.36 0.36 0.374 0.322684 0.5716 0.0863 0.379 0.2451 0.3753 0.59 0.04 0.41 0.35 0.462 0.59 0.5 T 0.004 B 0.004 B 0.143 N 1.000 P 0.85 L 6.98 T -0.958 T 0.000 T 0.11 -1.102 0.141 -3.77 -3.312 -1.838 1.212 -1.101637 NA 0.48 0.570116 0.387038 NA 0.406 NA 8.7296174 779 3 33255592 33255592 A G exonic SUSD5 NA nonsynonymous SNV SUSD5:NM_015551:exon2:c.T118C:p.F40L exonic ENSG00000173705 NA nonsynonymous SNV ENSG00000173705:ENST00000309558:exon2:c.T118C:p.F40L Score=449;Name=lod=89 NA 3p22.3 NA NA NA NA rs9637517 0.93 0.93 0.924 0.949681 0.8489 0.995 0.9265 0.9871 0.9724 0.84 1 0.92 0.98 0.899 1 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.91 N 2.34 T -0.972 T 0.000 T 0.201 0.173 4.929 5.03 1.122 1.621 8.062 0.172618 NA 1 0.855971 0.970573 NA 0.906 NA 8.7294624 779 17 33690466 33690466 C A exonic SLFN11 NA nonsynonymous SNV SLFN11:NM_152270:exon2:c.G361T:p.V121F,SLFN11:NM_001104589:exon3:c.G361T:p.V121F,SLFN11:NM_001104587:exon4:c.G361T:p.V121F,SLFN11:NM_001104588:exon4:c.G361T:p.V121F,SLFN11:NM_001104590:exon4:c.G361T:p.V121F exonic ENSG00000172716 NA nonsynonymous SNV ENSG00000172716:ENST00000308377:exon2:c.G361T:p.V121F,ENSG00000172716:ENST00000591682:exon3:c.G361T:p.V121F,ENSG00000172716:ENST00000394566:exon4:c.G361T:p.V121F NA NA 17q12 NA NA NA NA rs12453150 0.45 0.45 0.424 0.416134 0.5547 0.4821 0.5202 0.1543 0.4857 0.56 0.5 0.51 0.15 0.5002 0.56 0.77 T 0.001 B 0.002 B 0.006 N 1.000 P 0.46 N 4.52 T -0.923 T 0.000 T 0.029 0.538 6.914 -8.36 -3.775 -1.838 1.513 0.538262 NA 0.18 0.549419 0.230368 NA 0.377 NA 8.7290144 779 16 11773662 11773662 C G exonic TXNDC11 NA nonsynonymous SNV TXNDC11:NM_015914:exon12:c.G2266C:p.V756L exonic ENSG00000153066 NA nonsynonymous SNV ENSG00000153066:ENST00000283033:exon12:c.G2266C:p.V756L,ENSG00000153066:ENST00000356957:exon13:c.G2347C:p.V783L Score=462;Name=lod=101 NA 16p13.13 NA NA NA NA rs3190321 0.46 0.46 0.488 0.451877 0.5557 0.4345 0.3285 0.4342 0.4744 0.56 0.45 0.34 0.41 0.5081 0.56 0.86 T 0.0 B 0.001 B 0.005 N 1.000 P -0.895 N 2.95 T -0.960 T 0.000 T 0.04 -0.48 1.789 3.63 0.850 1.521 9.102 -0.480073 NA 1 0.541977 0.435594 NA 0.377 NA 8.7275564 779 4 123664446 123664446 G A exonic BBS12 NA nonsynonymous SNV BBS12:NM_152618:exon2:c.G1399A:p.D467N,BBS12:NM_001178007:exon3:c.G1399A:p.D467N exonic ENSG00000181004 NA nonsynonymous SNV ENSG00000181004:ENST00000314218:exon2:c.G1399A:p.D467N,ENSG00000181004:ENST00000542236:exon3:c.G1399A:p.D467N NA NA 4q27 NA Name=GATA-2 Name=4 NA rs13135778 0.11 0.11 0.1 0.0926518 0.2127 NA 0.1052 0.0514 0.1115 0.22 NA 0.12 0.07 0.1696 0.23 0.8 T 0.0 B 0.0 B 0.418 N 1.000 P -1.59 N -1.16 T -1.091 T 0.000 T 0.01 -1.553 0.015 1.9 -0.117 0.602 9.602 -1.552873 NA 1 0.225698 0.068997 NA 0.116 NA 8.7253354 779 2 69049939 69049939 G T exonic ARHGAP25 NA nonsynonymous SNV ARHGAP25:NM_001166276:exon9:c.G1647T:p.R549S,ARHGAP25:NM_001166277:exon9:c.G1548T:p.R516S,ARHGAP25:NM_014882:exon9:c.G1644T:p.R548S,ARHGAP25:NM_001007231:exon10:c.G1668T:p.R556S exonic ENSG00000163219 NA nonsynonymous SNV ENSG00000163219:ENST00000479844:exon4:c.G747T:p.R249S,ENSG00000163219:ENST00000409030:exon9:c.G1644T:p.R548S,ENSG00000163219:ENST00000409220:exon9:c.G1647T:p.R549S,ENSG00000163219:ENST00000467265:exon9:c.G1548T:p.R516S,ENSG00000163219:ENST00000295381:exon10:c.G1665T:p.R555S,ENSG00000163219:ENST00000409202:exon10:c.G1668T:p.R556S Score=325;Name=lod=28 NA 2p13.3 NA NA NA NA rs4241344 0.25 0.25 0.246 0.265974 0.1869 0.4435 0.3156 0.1725 0.2556 0.19 0.39 0.3 0.16 0.23 0.39 0.85 T 0.001 B 0.001 B 0.346 N 0.024 P 0 N 3.05 T -0.936 T 0.000 T 0.267 -0.244 2.826 3.55 0.698 0.193 1.924 -0.243736 NA 0.5 0.191163 0.172116 NA 0.174 NA 8.7252704 780 6 146755324 146755324 T C exonic GRM1 NA nonsynonymous SNV GRM1:NM_000838:exon9:c.T2977C:p.S993P exonic ENSG00000152822 NA nonsynonymous SNV ENSG00000152822:ENST00000282753:exon8:c.T2977C:p.S993P,ENSG00000152822:ENST00000361719:exon9:c.T2977C:p.S993P NA NA 6q24.3 NA NA NA NA rs6923492 0.57 0.57 0.548 0.604034 0.5457 0.5466 0.4726 0.7421 0.6299 0.54 0.53 0.48 0.72 0.5311 0.72 1 T 0.0 B 0.0 B 0.146 N 1.000 P -0.695 N -2.36 D -1.044 T 0.136 T 0.016 -0.518 1.636 3.42 0.607 0.444 8.553 -0.517781 NA 0.73 0.532674 0.710168 NA 0.558 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117205.2;CLNDSDB=.;CLNDSDBID=. 8.7238594 780 3 57108101 57108101 C T exonic SPATA12 NA nonsynonymous SNV SPATA12:NM_181727:exon2:c.C379T:p.P127S exonic ENSG00000186451 NA nonsynonymous SNV ENSG00000186451:ENST00000334325:exon2:c.C379T:p.P127S NA NA 3p14.3 NA NA NA NA rs76587478 0.02 0.02 0.019 0.0201677 0.0427 0.0069 0.0231 0.0008 0.0348 0.04 0.01 0.02 0.002 0.0293 0.04 0 D 0.458 P 0.224 B . . 1.000 N 0 N . . -1.039 T 0.009 T 0.053 1.156 9.706 -0.77 -0.195 0.067 3.159 1.15588 NA NA 0.038837 0.007944 NA 0.022 NA 8.7224964 780 3 133666209 133666209 C T exonic SLCO2A1 NA nonsynonymous SNV SLCO2A1:NM_005630:exon9:c.G1186A:p.A396T exonic ENSG00000174640 NA nonsynonymous SNV ENSG00000174640:ENST00000493729:exon8:c.G958A:p.A320T,ENSG00000174640:ENST00000310926:exon9:c.G1186A:p.A396T Score=472;Name=lod=110 NA 3q22.1 NA NA NA NA rs34550074 0.28 0.28 0.281 0.283746 0.1899 0.2817 0.2536 0.4297 0.2065 0.21 0.27 0.26 0.41 0.2341 0.41 0.43 T 0.001 B 0.004 B 0.004 N 0.999 P -0.385 N 1.09 T -0.911 T 0.000 T 0.063 -0.6 1.317 4.55 0.437 0.518 8.120 -0.600463 NA 0.72 0.186977 0.410123 ID=COSM149474;OCCURENCE=1(stomach) 0.196 NA 8.7223564 780 20 62595990 62595990 T C exonic ZNF512B NA nonsynonymous SNV ZNF512B:NM_020713:exon6:c.A1114G:p.M372V exonic ENSG00000196700 NA nonsynonymous SNV ENSG00000196700:ENST00000217130:exon6:c.A1114G:p.M372V,ENSG00000196700:ENST00000369888:exon6:c.A1114G:p.M372V,ENSG00000196700:ENST00000450537:exon6:c.A1114G:p.M372V NA NA 20q13.33 NA NA NA NA rs817326 0.12 0.12 0.111 0.0944489 0.2207 0.0149 0.1225 0.056 0.0787 0.22 0.02 0.14 0.06 0.1803 0.22 0.72 T 0.0 B 0.0 B 0.867 N 1.000 P 0.69 N 2.03 T -1.010 T 0.000 T 0.035 -0.416 2.059 -11.0 -2.664 -2.146 8.236 -0.415806 NA 0.25 0.21093 0.090104 ID=COSM329638;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.094 NA 8.7214034 780 14 50704435 50704435 G A intergenic SOS2,L2HGDH dist=6336;dist=4717 NA NA exonic ENSG00000087299 NA nonsynonymous SNV ENSG00000087299:ENST00000261699:exon10:c.C1205T:p.A402V NA NA 14q21.3 NA NA Name=10 NA rs80325445 0.02 0.02 0.013 0.0123802 0.0398 NA 0.0159 0.0015 0.0092 0.04 NA 0.01 0.002 0.0341 0.041 0.11 T 0.001 B 0.005 B . . 1.000 N . . -3.16 D -0.463 T 0.301 T 0.102 2.465 14.2 2.89 0.712 0.434 5.756 2.464862 2.464862 0.19 0.040934 0.005708 NA NA NA 8.7184994 780 21 43531808 43531808 A C exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001199527:exon11:c.A2260C:p.T754P,UMODL1:NM_173568:exon11:c.A2476C:p.T826P,UMODL1:NM_001004416:exon12:c.A2092C:p.T698P,UMODL1:NM_001199528:exon12:c.A1876C:p.T626P exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400427:exon11:c.A2260C:p.T754P,ENSG00000177398:ENST00000408989:exon11:c.A2476C:p.T826P,ENSG00000177398:ENST00000400424:exon12:c.A1876C:p.T626P,ENSG00000177398:ENST00000408910:exon12:c.A2092C:p.T698P NA NA 21q22.3 Score=772;Name=V$SEF1_C NA NA NA rs220130 0.2 0.2 0.192 0.196685 0.2187 0.1994 0.232 0.177 0.1728 0.2 0.21 0.21 0.17 0.1993 0.21 0.07 T 0.001 B 0.003 B 0.462 N 1.000 P 0.805 L 0.41 T -1.031 T 0.000 T 0.053 0.994 9.058 -7.2 -0.817 -0.755 11.169 0.993873 NA 0.04 0.196861 0.170455 NA 0.167 NA 8.7184724 780 19 39322087 39322087 T G exonic ECH1 NA nonsynonymous SNV ECH1:NM_001398:exon2:c.A122C:p.E41A exonic ENSG00000104823,ENSG00000268083 NA nonsynonymous SNV ENSG00000104823:ENST00000221418:exon2:c.A122C:p.E41A,ENSG00000104823:ENST00000595470:exon2:c.A122C:p.E41A NA NA 19q13.2 NA Name=p300,ELF1_(SC-631),Pol2,GATA3_(SC-268),GABP,TBP,ZNF263,Pbx3,FOXA1_(C-20) Name=137 NA rs9419 0.4 0.4 0.372 0.365016 0.5915 0.244 0.4207 0.2035 0.4356 0.6 0.3 0.43 0.19 0.4727 0.6 0.67 T 0.029 B 0.008 B 0.848 U 1.000 P 0.55 N -0.03 T -0.928 T 0.000 T 0.098 1.675 11.56 2.94 0.799 0.652 5.329 1.675316 1.675316 0.36 0.551744 0.254199 NA 0.435 NA 8.7173894 780 1 207753621 207753621 A G exonic CR1 NA nonsynonymous SNV CR1:NM_000573:exon22:c.A3623G:p.H1208R,CR1:NM_000651:exon30:c.A4973G:p.H1658R exonic ENSG00000203710 NA nonsynonymous SNV ENSG00000203710:ENST00000534202:exon14:c.A2273G:p.H758R,ENSG00000203710:ENST00000367051:exon22:c.A3623G:p.H1208R,ENSG00000203710:ENST00000367052:exon22:c.A3623G:p.H1208R,ENSG00000203710:ENST00000367053:exon22:c.A3623G:p.H1208R,ENSG00000203710:ENST00000400960:exon22:c.A3623G:p.H1208R,ENSG00000203710:ENST00000367049:exon30:c.A4973G:p.H1658R NA NA 1q32.2 NA NA NA NA rs2274567 0.22 0.22 0.186 0.294329 0.1819 0.3274 0.2709 0.2186 0.4949 0.17 0.23 0.3 0.23 0.251 0.3 0.35 T 0.995 D 0.984 D . . 1.000 P 0.51 N -0.03 T -1.065 T 0.000 T 0.069 -0.892 0.454 0.182 0.164 0.814 1.201 -0.89216 NA 0.42 0.183349 0.222987 NA 0.21 NA 8.7170844 780 8 110302047 110302047 T G exonic NUDCD1 NA nonsynonymous SNV NUDCD1:NM_001128211:exon5:c.A669C:p.L223F,NUDCD1:NM_032869:exon5:c.A756C:p.L252F exonic ENSG00000120526 NA nonsynonymous SNV ENSG00000120526:ENST00000239690:exon5:c.A756C:p.L252F,ENSG00000120526:ENST00000427660:exon5:c.A669C:p.L223F Score=448;Name=lod=88 NA 8q23.1 NA NA NA NA rs2980619 0.62 0.62 0.626 0.671126 0.4841 0.5218 0.6888 0.8941 0.7035 0.49 0.55 0.68 0.86 0.5926 0.86 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.36 N 2.33 T -0.988 T 0.000 T 0.09 -1.392 0.024 3.81 0.293 2.429 7.738 -1.391632 NA 1 0.541395 0.839764 NA 0.587 NA 8.7152384 781 2 27460968 27460968 A G exonic CAD NA synonymous SNV CAD:NM_004341:exon30:c.A4773G:p.A1591A exonic ENSG00000084774 NA synonymous SNV ENSG00000084774:ENST00000403525:exon29:c.A4584G:p.A1528A,ENSG00000084774:ENST00000264705:exon30:c.A4773G:p.A1591A NA NA 2p23.3 NA NA NA NA rs1141313 0.38 0.38 0.378 0.454673 0.2883 0.1488 0.4683 0.8374 0.4141 0.28 0.11 0.42 0.81 0.3653 0.81 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . -0.728 0.885 -9.6 -2.338 -4.974 2.917 -0.72754 NA NA 0.29814 0.746028 NA 0.522 NA 8.7149266 781 18 31324934 31324934 A G exonic ASXL3 NA nonsynonymous SNV ASXL3:NM_030632:exon12:c.A5122G:p.M1708V exonic ENSG00000141431 NA nonsynonymous SNV ENSG00000141431:ENST00000269197:exon12:c.A5122G:p.M1708V NA NA 18q12.1 NA NA NA NA rs7232237 0.68 0.68 0.663 0.679113 0.5189 0.8988 0.6816 0.7352 0.5399 0.51 0.9 0.64 0.72 0.5863 0.9 0.62 T 0.0 B 0.0 B . . 1.000 P -0.205 N 2.68 T -1.037 T 0.000 T 0.021 -2.951 0.001 -7.36 -1.640 -1.434 3.295 -2.950943 NA 0 0.513417 0.737838 NA 0.681 NA 8.7147164 781 21 28302355 28302355 A G exonic ADAMTS5 NA nonsynonymous SNV ADAMTS5:NM_007038:exon7:c.T2075C:p.L692P exonic ENSG00000154736 NA nonsynonymous SNV ENSG00000154736:ENST00000284987:exon7:c.T2075C:p.L692P Score=295;Name=lod=21 NA 21q21.3 NA NA NA NA rs226794 0.78 0.78 0.802 0.809704 0.8867 0.498 0.732 0.9803 0.8763 0.88 0.49 0.74 0.98 0.8402 0.98 1 T 0.0 B 0.0 B 0.000 N 0.001 P -1.775 N 0.97 T -0.936 T 0.000 T 0.153 -0.368 2.268 5.97 1.555 7.315 15.465 -0.367581 NA NA 0.89186 0.959374 NA 0.877 NA 8.7145734 781 16 1129872 1129872 C T exonic SSTR5 NA nonsynonymous SNV SSTR5:NM_001053:exon1:c.C1004T:p.P335L,SSTR5:NM_001172560:exon2:c.C1004T:p.P335L exonic ENSG00000162009 NA nonsynonymous SNV ENSG00000162009:ENST00000293897:exon1:c.C1004T:p.P335L,ENSG00000162009:ENST00000397547:exon2:c.C1004T:p.P335L NA NA 16p13.3 Score=864;Name=V$ZID_01 NA NA NA rs169068 0.56 0.56 0.527 0.518171 0.5427 0.8085 0.5562 0.3366 0.4121 0.55 0.81 0.54 0.3 0.5386 0.81 0.37 T 0.055 B 0.011 B 0.234 N 1.000 P 2.015 M -0.59 T -0.970 T 0.000 T 0.06 -0.133 3.347 2.24 0.883 0.488 6.593 -0.133417 NA 0.31 0.539152 0.383081 NA 0.58 NA 8.7128814 781 8 28206275 28206275 G C exonic ZNF395 NA synonymous SNV ZNF395:NM_018660:exon10:c.C1503G:p.A501A exonic ENSG00000186918 NA synonymous SNV ENSG00000186918:ENST00000344423:exon10:c.C1503G:p.A501A,ENSG00000186918:ENST00000523095:exon10:c.C1503G:p.A501A,ENSG00000186918:ENST00000523202:exon10:c.C1503G:p.A501A Score=582;Name=lod=309 NA 8p21.1 Score=806;Name=V$PAX5_01 Name=Pol2,TAF1,Pol2-4H8,NFKB NA Score=84;Name=2293892_0_-_84 rs1046511 0.32 0.32 0.283 0.315096 0.3191 0.3879 0.4928 0.1467 0.3374 0.32 0.38 0.48 0.14 0.3257 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.785055 1.785055 NA 0.311163 0.179301 NA 0.181 NA 8.7107036 781 9 132662786 132662786 C T exonic FNBP1 NA nonsynonymous SNV FNBP1:NM_015033:exon14:c.G1469A:p.S490N exonic ENSG00000187239 NA nonsynonymous SNV ENSG00000187239:ENST00000443566:exon5:c.G353A:p.S118N,ENSG00000187239:ENST00000355681:exon14:c.G1382A:p.S461N,ENSG00000187239:ENST00000420781:exon14:c.G1442A:p.S481N,ENSG00000187239:ENST00000446176:exon14:c.G1469A:p.S490N NA NA 9q34.11 Score=813;Name=V$PAX4_01 Name=Pol2-4H8 NA NA rs1023000 0.61 0.61 0.597 0.634784 0.507 0.7927 0.6527 0.5787 0.6667 0.49 0.76 0.6 0.63 0.5926 0.76 0.12 T 0.0 B 0.012 B 0.497 N 1.000 P 0.715 N -0.77 T -0.917 T 0.000 T 0.063 -0.826 0.609 2.15 0.131 0.438 5.586 -0.825795 NA 0.18 0.524199 0.591507 ID=COSM455470;OCCURENCE=2(breast) 0.696 NA 8.7095344 781 19 53856349 53856349 A T exonic ZNF845 NA nonsynonymous SNV ZNF845:NM_138374:exon4:c.A2421T:p.E807D exonic ENSG00000213799 NA nonsynonymous SNV ENSG00000213799:ENST00000458035:exon4:c.A2421T:p.E807D,ENSG00000213799:ENST00000595091:exon5:c.A2421T:p.E807D NA NA 19q13.42 NA NA NA NA rs55874600 0.22 0.22 0.207 0.203874 0.3946 0.1052 0.2421 0.0431 0.2996 0.41 0.08 0.25 0.05 0.3233 0.41 0.18 T 0.563 P 0.407 B . . 1.000 P 0.505 N 0.99 T -0.961 T 0.000 T 0.026 0.779 8.112 -4.2 -0.620 -6.159 4.309 0.779021 NA 0.1 0.408234 0.087428 NA 0.246 NA 8.7071994 781 16 74808425 74808425 G A exonic FA2H NA synonymous SNV FA2H:NM_024306:exon1:c.C229T:p.L77L exonic ENSG00000103089 NA synonymous SNV ENSG00000103089:ENST00000219368:exon1:c.C229T:p.L77L,ENSG00000103089:ENST00000567683:exon1:c.C229T:p.L77L Score=608;Name=lod=396 NA 16q23.1 Score=895;Name=V$CP2_01 Name=BAF155,Ini1 NA NA rs929881 0.26 0.26 0.271 0.249002 0.3151 0.0377 0.2046 0.447 0.1626 0.31 0.03 0.23 0.47 0.3587 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522503 NA NA 0.286069 0.39158 NA 0.159 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117009.1;CLNDSDB=.;CLNDSDBID=. 8.7067976 781 3 97887985 97887985 T A exonic OR5H15 NA nonsynonymous SNV OR5H15:NM_001005515:exon1:c.T442A:p.S148T exonic ENSG00000233412 NA nonsynonymous SNV ENSG00000233412:ENST00000356526:exon1:c.T442A:p.S148T NA NA 3q11.2 NA NA NA NA rs4133321 0.57 0.57 0.576 0.566693 0.5338 0.5079 0.5663 0.6354 0.5685 0.54 0.56 0.52 0.64 0.5528 0.64 0.25 T 0.156 B 0.1 B 0.001 N 1.000 P 1.99 M 1.17 T -0.956 T 0.000 T 0.107 1.445 10.77 2.48 1.138 -0.728 5.606 1.445313 1.445313 0.17 0.540493 0.61734 NA 0.399 NA 8.7062404 782 3 158366900 158366900 G A exonic GFM1 NA nonsynonymous SNV GFM1:NM_024996:exon5:c.G643A:p.V215I exonic ENSG00000168827 NA nonsynonymous SNV ENSG00000168827:ENST00000264263:exon5:c.G643A:p.V215I,ENSG00000168827:ENST00000478254:exon5:c.G643A:p.V215I,ENSG00000168827:ENST00000478576:exon5:c.G643A:p.V215I,ENSG00000168827:ENST00000486715:exon5:c.G643A:p.V215I Score=397;Name=lod=55 NA 3q25.32 NA NA NA NA rs2303909 0.55 0.55 0.548 0.583267 0.5437 0.3849 0.5303 0.7708 0.6125 0.56 0.38 0.53 0.76 0.5467 0.76 0.95 T 0.006 B 0.074 B 0.000 N 0.000 P 0.67 N -0.77 T -0.935 T 0.000 T 0.074 1.614 11.36 3.69 0.188 3.315 9.723 1.614309 1.614309 0.42 0.538837 0.714707 NA 0.558 NA 8.7040964 782 1 21798249 21798249 C G exonic NBPF3 NA nonsynonymous SNV NBPF3:NM_001256417:exon4:c.C424G:p.Q142E,NBPF3:NM_001256416:exon5:c.C634G:p.Q212E,NBPF3:NM_032264:exon5:c.C634G:p.Q212E exonic ENSG00000142794 NA nonsynonymous SNV ENSG00000142794:ENST00000454000:exon4:c.C424G:p.Q142E,ENSG00000142794:ENST00000318249:exon5:c.C634G:p.Q212E,ENSG00000142794:ENST00000342104:exon5:c.C634G:p.Q212E,ENSG00000142794:ENST00000318220:exon8:c.C466G:p.Q156E,ENSG00000142794:ENST00000434838:exon9:c.C466G:p.Q156E NA NA 1p36.12 NA NA NA NA rs72872297 0.05 0.05 0.042 0.0429313 0.0388 NA 0.0331 0.0983 0.0235 0.05 NA 0.04 0.1 0.0431 0.1 1 T 0.7 P 0.357 B . . 1.000 N 0.35 N 4.46 T -1.117 T 0.002 T 0.301 -2.287 0.004 -2.46 -0.901 -0.482 2.792 -2.287241 NA 0.43 0.05 0.097821 NA 0.065 NA 8.7014334 782 2 49191041 49191041 C T exonic FSHR NA nonsynonymous SNV FSHR:NM_181446:exon9:c.G841A:p.A281T,FSHR:NM_000145:exon10:c.G919A:p.A307T exonic ENSG00000170820 NA nonsynonymous SNV ENSG00000170820:ENST00000541117:exon7:c.G127A:p.A43T,ENSG00000170820:ENST00000304421:exon9:c.G841A:p.A281T,ENSG00000170820:ENST00000346173:exon9:c.G733A:p.A245T,ENSG00000170820:ENST00000454032:exon9:c.G733A:p.A245T,ENSG00000170820:ENST00000406846:exon10:c.G919A:p.A307T NA NA 2p16.3 Score=825;Name=V$BACH1_01 NA Name=7 NA rs6165 0.51 0.51 0.484 0.492212 0.5487 0.6597 0.5793 0.2375 0.544 0.54 0.67 0.58 0.24 0.5446 0.67 . . 0.002 B 0.006 B 0.929 N 1.000 P 1.5 L -0.06 T -0.926 T 0.000 T 0.266 0.209 5.128 1.76 0.150 -0.110 4.468 0.209238 NA 0.42 0.541512 0.285066 NA 0.478 CLINSIG=drug-response;CLNDBN=Ovarian_response_to_FSH_stimulation;CLNREVSTAT=single;CLNACC=RCV000017633.1;CLNDSDB=MedGen;CLNDSDBID=C1848715 8.6985214 782 5 172662024 172662024 T C exonic NKX2-5 NA synonymous SNV NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E exonic ENSG00000183072 NA synonymous SNV ENSG00000183072:ENST00000329198:exon1:c.A63G:p.E21E,ENSG00000183072:ENST00000424406:exon1:c.A63G:p.E21E,ENSG00000183072:ENST00000517440:exon1:c.A63G:p.E21E,ENSG00000183072:ENST00000521848:exon1:c.A63G:p.E21E Score=604;Name=lod=380 NA 5q35.1 NA Name=SUZ12,TAF1,Pol2,Egr-1 Name=23 NA rs2277923 0.51 0.51 0.46 0.535743 0.2823 0.6339 0.5058 0.7254 0.4601 0.29 0.67 0.43 0.72 0.4052 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103567 NA NA 0.281346 0.644501 NA 0.536 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000037967.2|RCV000127214.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.6978206 782 6 31118511 31118511 T G exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon6:c.A984C:p.E328D,CCHCR1:NM_001105564:exon6:c.A1092C:p.E364D,CCHCR1:NM_019052:exon6:c.A825C:p.E275D exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000376266:exon6:c.A825C:p.E275D,ENSG00000204536:ENST00000396263:exon6:c.A825C:p.E275D,ENSG00000204536:ENST00000396268:exon6:c.A1092C:p.E364D,ENSG00000204536:ENST00000451521:exon6:c.A984C:p.E328D Score=317;Name=lod=26 Name=Prostate cancer 6p21.33 NA NA NA NA rs130067 0.24 0.24 0.209 0.254992 0.2087 0.3462 0.3329 0.1899 0.2413 0.21 0.29 0.31 0.19 0.2299 0.31 0.33 T 0.003 B 0.009 B 0.805 N 1.000 P 0.6 N 3.97 T -0.901 T 0.002 T 0.127 0.669 7.582 -1.08 -0.132 -0.444 0.579 0.66893 NA 0.35 0.197305 0.191926 NA 0.217 NA 8.6974284 782 19 37118439 37118439 C T exonic ZNF382 NA nonsynonymous SNV ZNF382:NM_001256838:exon5:c.C1637T:p.T546M,ZNF382:NM_032825:exon5:c.C1640T:p.T547M exonic ENSG00000161298 NA nonsynonymous SNV ENSG00000161298:ENST00000435416:exon3:c.C1637T:p.T546M,ENSG00000161298:ENST00000423582:exon4:c.C1493T:p.T498M,ENSG00000161298:ENST00000292928:exon5:c.C1640T:p.T547M,ENSG00000161298:ENST00000439428:exon5:c.C1637T:p.T546M NA NA 19q13.12 NA Name=SETDB1 NA NA rs61732180 0.15 0.15 0.136 0.130591 0.2346 0.1438 0.1196 0.0106 0.18 0.24 0.15 0.13 0.02 0.1852 0.24 0.05 D 0.0 B 0.0 B 0.411 N 1.000 P 1.065 L 3.46 T -0.927 T 0.000 T 0.072 -0.181 3.121 1.99 0.218 0.770 5.496 -0.180615 NA 0.38 0.217674 0.038811 NA 0.174 NA 8.6958594 783 14 93118038 93118038 A G exonic RIN3 NA nonsynonymous SNV RIN3:NM_024832:exon6:c.A644G:p.H215R exonic ENSG00000100599 NA nonsynonymous SNV ENSG00000100599:ENST00000216487:exon6:c.A644G:p.H215R NA NA 14q32.12 NA Name=EBF,Pol2-4H8,PAX5-C20,PAX5-N19,BCL3,NFKB,TCF12,POU2F2,IRF4_(M-17),YY1_(C-20),BCL11A,Pol2,SP1,Oct-2,BATF,EBF1_(C-8) Name=19 NA rs3829947 0.43 0.43 0.46 0.442492 0.5815 0.2748 0.451 0.4561 0.4479 0.56 0.24 0.45 0.45 0.4877 0.57 0.83 T 0.0 B 0.001 B 0.120 N 0.414 P 0.145 N 1.98 T -0.936 T 0.000 T 0.016 2.642 14.79 -5.52 -0.914 -0.197 2.511 2.642037 2.642037 0.31 0.57 0.456423 NA 0.268 NA 8.6941334 783 4 187629538 187629538 C T exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.G1444A:p.V482I exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.G1444A:p.V482I,ENSG00000083857:ENST00000509647:exon2:c.G1444A:p.V482I Score=265;Name=lod=16 NA 4q35.2 NA NA NA NA rs3733413 0.36 0.36 0.338 0.338858 0.5765 0.1399 0.4798 0.1581 0.4438 0.57 0.13 0.53 0.19 0.4865 0.58 0.32 T 0.059 B 0.09 B 0.000 N 0.000 P 1.82 L 0.44 T -0.917 T 0.000 T 0.129 1.861 12.18 2.77 0.872 3.947 11.119 1.860644 1.860644 0.04 0.577236 0.222086 NA 0.326 NA 8.6930974 783 1 152283862 152283862 G C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C3500G:p.A1167G exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C3500G:p.A1167G NA NA 1q21.3 NA NA NA NA rs58001094 0.37 0.37 0.342 0.534145 0.1759 0.6577 0.4611 0.7806 0.4939 0.15 0.55 0.34 0.53 0.304 0.6 0.41 T 0.011 B 0.005 B . . 1.000 P -2.42 N 3.76 T -0.905 T 0.001 T 0.018 -0.205 3.006 -5.53 -1.865 . 10.778 -0.204867 NA 1 0.16186 0.599637 ID=COSM1600315;OCCURENCE=1(central_nervous_system) 0.406 NA 8.6915734 783 8 18729818 18729818 T G exonic PSD3 NA nonsynonymous SNV PSD3:NM_015310:exon3:c.A556C:p.T186P exonic ENSG00000156011 NA nonsynonymous SNV ENSG00000156011:ENST00000523619:exon2:c.A361C:p.T121P,ENSG00000156011:ENST00000327040:exon3:c.A556C:p.T186P,ENSG00000156011:ENST00000440756:exon3:c.A556C:p.T186P NA NA 8p22 NA Name=CTCF NA NA rs7003060 0.67 0.67 0.25 0.855631 0.671 0.9782 0.8012 0.9365 0.8487 0.53 0.83 0.66 0.7 0.756 0.83 0.33 T 0.0 B 0.0 B 0.000 N 1.000 P -0.205 N 1.47 T -0.981 T 0.000 T 0.053 0.259 5.401 -3.96 -1.736 -0.072 1.042 0.259169 NA 0.08 0.215681 0.344828 NA NA NA 8.6906524 783 17 6716242 6716242 G A exonic TEKT1 NA nonsynonymous SNV TEKT1:NM_053285:exon6:c.C760T:p.R254C exonic ENSG00000167858 NA nonsynonymous SNV ENSG00000167858:ENST00000571744:exon1:c.C94T:p.R32C,ENSG00000167858:ENST00000535086:exon5:c.C322T:p.R108C,ENSG00000167858:ENST00000338694:exon6:c.C760T:p.R254C Score=366;Name=lod=41 NA 17p13.1 NA NA NA NA rs3744395 0.25 0.25 0.228 0.246406 0.2087 0.4365 0.2853 0.1006 0.2587 0.2 0.47 0.23 0.08 0.2285 0.47 0.12 T 0.037 B 0.035 B 0.013 N 0.002 P 1.34 L 4.08 T -0.939 T 0.000 T 0.401 1.372 10.51 0.207 -0.088 1.082 4.477 1.371713 1.371713 0.12 0.206977 0.122787 NA 0.246 NA 8.6891564 783 11 119052826 119052826 C A exonic NLRX1 NA nonsynonymous SNV NLRX1:NM_024618:exon9:c.C2378A:p.A793E,NLRX1:NM_170722:exon9:c.C2378A:p.A793E exonic ENSG00000160703 NA nonsynonymous SNV ENSG00000160703:ENST00000525863:exon8:c.C2378A:p.A793E,ENSG00000160703:ENST00000292199:exon9:c.C2378A:p.A793E,ENSG00000160703:ENST00000409109:exon9:c.C2378A:p.A793E,ENSG00000160703:ENST00000409265:exon9:c.C2378A:p.A793E,ENSG00000160703:ENST00000409991:exon9:c.C2378A:p.A793E NA NA 11q23.3 Score=886;Name=V$E47_01 NA NA NA rs4245191 0.65 0.65 0.669 0.688299 0.5477 0.8839 0.4179 0.708 0.7965 0.54 0.87 0.46 0.71 0.5754 0.87 1 T 0.014 B 0.02 B 0.001 N 1.000 P -0.41 N 0.7 T -0.956 T 0.000 T 0.154 -2.092 0.006 2.91 0.628 2.559 6.556 -2.09184 NA 1 0.521187 0.675227 NA 0.79 NA 8.6890464 783 17 72862593 72862593 C T exonic FDXR NA nonsynonymous SNV FDXR:NM_001258016:exon3:c.G212A:p.R71Q,FDXR:NM_001258012:exon4:c.G497A:p.R166Q,FDXR:NM_001258014:exon4:c.G344A:p.R115Q,FDXR:NM_004110:exon4:c.G368A:p.R123Q,FDXR:NM_024417:exon4:c.G368A:p.R123Q,FDXR:NM_001258013:exon5:c.G461A:p.R154Q exonic ENSG00000161513 NA nonsynonymous SNV ENSG00000161513:ENST00000544854:exon3:c.G212A:p.R71Q,ENSG00000161513:ENST00000579893:exon3:c.G215A:p.R72Q,ENSG00000161513:ENST00000293195:exon4:c.G368A:p.R123Q,ENSG00000161513:ENST00000442102:exon4:c.G497A:p.R166Q,ENSG00000161513:ENST00000581219:exon4:c.G473A:p.R158Q,ENSG00000161513:ENST00000581530:exon4:c.G368A:p.R123Q,ENSG00000161513:ENST00000582944:exon4:c.G344A:p.R115Q,ENSG00000161513:ENST00000583917:exon4:c.G371A:p.R124Q,ENSG00000161513:ENST00000413947:exon5:c.G461A:p.R154Q,ENSG00000161513:ENST00000455107:exon5:c.G236A:p.R79Q Score=484;Name=lod=124 NA 17q25.1 NA NA NA NA rs690514 0.21 0.21 0.176 0.185104 0.2147 0.378 0.1571 0.0333 0.181 0.22 0.39 0.16 0.03 0.2103 0.39 0.31 T 0.062 B 0.02 B 0.132 N 0.000 P 0.765 N -0.38 T -0.966 T 0.000 T 0.097 1.591 11.28 -1.99 -0.351 -1.415 11.045 1.591102 1.591102 0.24 0.2204 0.065138 ID=COSM1479985,COSM437343;OCCURENCE=2(breast) 0.167 NA 8.6879334 783 19 54973280 54973280 C G exonic LENG9 NA nonsynonymous SNV LENG9:NM_198988:exon1:c.G1496C:p.R499P exonic ENSG00000182909 NA nonsynonymous SNV ENSG00000182909:ENST00000333834:exon1:c.G1496C:p.R499P NA NA 19q13.42 NA Name=Pol2 NA NA rs10423424 0.56 0.56 0.59 0.579073 0.5626 0.3651 0.464 0.77 0.6401 0.56 0.35 0.53 0.83 0.5405 0.83 1 T 0.0 B 0.0 B 0.828 N 1.000 P -1.79 N 1.19 T -0.962 T 0.000 T 0.049 -0.795 0.689 3.9 0.581 1.083 8.380 -0.795374 NA 1 0.544566 0.744893 NA 0.42 NA 8.6856674 783 3 97868795 97868795 A G exonic OR5H14 NA nonsynonymous SNV OR5H14:NM_001005514:exon1:c.A566G:p.Y189C exonic ENSG00000236032 NA nonsynonymous SNV ENSG00000236032:ENST00000437310:exon1:c.A566G:p.Y189C Score=321;Name=lod=27 NA 3q11.2 NA NA NA NA rs4857076 0.61 0.61 0.644 0.631589 0.5348 0.5228 0.585 0.8601 0.5675 0.53 0.56 0.52 0.84 0.572 0.84 1 T 0.0 B 0.0 B 0.000 N 0.941 P -3.695 N 10.23 T -0.891 T 0.000 T 0.064 -1.206 0.069 2.49 0.372 3.742 7.342 -1.206011 NA 1 0.541201 0.810541 NA 0.543 NA 8.6853324 784 1 182551337 182551337 A C exonic RNASEL NA nonsynonymous SNV RNASEL:NM_021133:exon4:c.T1623G:p.D541E exonic ENSG00000135828 NA nonsynonymous SNV ENSG00000135828:ENST00000444138:exon3:c.T1623G:p.D541E,ENSG00000135828:ENST00000367559:exon4:c.T1623G:p.D541E,ENSG00000135828:ENST00000539397:exon4:c.T1623G:p.D541E NA NA 1q25.3 NA NA NA NA rs627928 0.52 0.52 0.507 0.479832 0.5686 0.7093 0.4424 0.2632 0.4714 0.58 0.71 0.48 0.25 0.538 0.71 1 T 0.0 B 0.0 B 0.473 N 1.000 P 0.565 N 2.06 T -0.958 T 0.000 T 0.023 -0.787 0.711 -5.59 -1.577 -2.581 3.987 -0.786976 NA 1 0.545349 0.329324 NA 0.428 NA 8.6813844 784 8 125565328 125565328 T C exonic MTSS1 NA nonsynonymous SNV MTSS1:NM_014751:exon14:c.A2173G:p.T725A exonic ENSG00000170873 NA nonsynonymous SNV ENSG00000170873:ENST00000395508:exon7:c.A1495G:p.T499A,ENSG00000170873:ENST00000431961:exon8:c.A1327G:p.T443A,ENSG00000170873:ENST00000524090:exon8:c.A1843G:p.T615A,ENSG00000170873:ENST00000354184:exon13:c.A1327G:p.T443A,ENSG00000170873:ENST00000378017:exon14:c.A2098G:p.T700A,ENSG00000170873:ENST00000518547:exon14:c.A2173G:p.T725A,ENSG00000170873:ENST00000325064:exon15:c.A2185G:p.T729A NA NA 8q24.13 Score=804;Name=V$OLF1_01 NA NA NA rs3829037 0.19 0.19 0.186 0.161741 0.2366 0.1587 0.1066 0.1573 0.1329 0.25 0.14 0.14 0.18 0.1995 0.25 0.69 T 0.003 B 0.004 B 0.528 N 1.000 P -0.35 N 0.95 T -1.097 T 0.000 T 0.159 -0.899 0.441 -4.85 -0.882 0.096 19.568 -0.898591 NA 0.6 0.216047 0.149115 NA 0.094 NA 8.6811864 784 10 128019025 128019025 C G exonic ADAM12 NA nonsynonymous SNV ADAM12:NM_003474:exon2:c.G142C:p.G48R,ADAM12:NM_021641:exon2:c.G142C:p.G48R exonic ENSG00000148848 NA nonsynonymous SNV ENSG00000148848:ENST00000368676:exon2:c.G142C:p.G48R,ENSG00000148848:ENST00000368679:exon2:c.G142C:p.G48R,ENSG00000148848:ENST00000448723:exon2:c.G142C:p.G48R NA NA 10q26.2 NA NA NA NA rs3740199 0.55 0.55 0.519 0.523363 0.5398 0.4772 0.5965 0.5802 0.4254 0.56 0.49 0.57 0.59 0.5504 0.59 0.4 T 0.0 B 0.0 B 0.530 N 1.000 P 0 N 4.87 T -0.932 T 0.000 T 0.336 -0.793 0.695 -3.88 -1.216 -2.308 6.315 -0.793114 NA 0.68 0.563953 0.587608 ID=COSM1128108,COSM1128110,COSM1128109;OCCURENCE=1(prostate) 0.522 NA 8.6791804 784 1 153233510 153233510 A G exonic LOR NA nonsynonymous SNV LOR:NM_000427:exon2:c.A85G:p.S29G exonic ENSG00000203782 NA nonsynonymous SNV ENSG00000203782:ENST00000368742:exon2:c.A85G:p.S29G NA NA 1q21.3 NA NA NA NA rs6661601 0.22 0.22 0.105 0.182109 0.3419 0.0655 0.281 0.0908 0.1912 0.37 0.09 0.28 0.12 0.3123 0.37 0 D 0.0 B 0.001 B 0.794 N 1.000 P -1.15 N 1.4 T -0.949 T 0.010 T 0.223 -0.578 1.402 -4.02 -0.694 0.658 8.684 -0.577954 NA NA NA NA NA 0.138 NA 8.6791334 784 14 33293122 33293122 A G exonic AKAP6 NA nonsynonymous SNV AKAP6:NM_004274:exon13:c.A6103G:p.N2035D exonic ENSG00000151320 NA nonsynonymous SNV ENSG00000151320:ENST00000280979:exon13:c.A6103G:p.N2035D NA NA 14q12 Score=907;Name=V$GATA1_04 NA Name=11 NA rs1051695 0.69 0.69 0.704 0.710264 0.5308 0.6716 0.6772 0.9145 0.682 0.53 0.73 0.67 0.91 0.5964 0.91 0.81 T 0.0 B 0.0 B 0.315 N 1.000 P -1.7 N 3.55 T -1.067 T 0.000 T 0.004 -1.134 0.115 2.16 -0.052 -0.005 5.709 -1.133739 NA 0.78 0.527209 0.858375 NA 0.63 NA 8.6789244 784 3 97983391 97983391 C T exonic OR5H6 NA nonsynonymous SNV OR5H6:NM_001005479:exon1:c.C263T:p.S88L exonic ENSG00000230301 NA nonsynonymous SNV ENSG00000230301:ENST00000383696:exon1:c.C263T:p.S88L NA NA 3q11.2 NA NA NA NA rs2173236 NA NA 0.567 0.380591 0.5636 0.1319 0.3559 0.4433 0.3814 NA NA NA NA 0.4632 0.67 0.03 D 0.001 B 0.001 B 0.267 N 1.000 N 0.08 N 7.44 T -0.954 T 0.000 T 0.037 0.818 8.291 -4.15 -1.226 0.046 6.419 0.817682 NA 0.1 0.629419 0.666818 NA 0.413 NA 8.6771144 785 1 229623338 229623338 T C exonic NUP133 NA nonsynonymous SNV NUP133:NM_018230:exon10:c.A1217G:p.Q406R exonic ENSG00000069248 NA nonsynonymous SNV ENSG00000069248:ENST00000261396:exon10:c.A1217G:p.Q406R,ENSG00000069248:ENST00000366679:exon10:c.A1217G:p.Q406R,ENSG00000069248:ENST00000537506:exon11:c.A1169G:p.Q390R NA NA 1q42.13 NA NA NA NA rs1065674 0.28 0.28 0.268 0.303315 0.2097 0.1607 0.3271 0.5802 0.1554 0.21 0.14 0.28 0.56 0.2336 0.56 1 T 0.0 B 0.0 B 0.000 N 0.884 P -1.05 N 1.3 T -0.903 T 0.000 T 0.048 -1.506 0.017 2.2 0.029 1.748 9.323 -1.505721 NA 1 0.216628 0.526782 NA 0.283 NA 8.6734054 785 14 36153177 36153177 T C exonic RALGAPA1 NA nonsynonymous SNV RALGAPA1:NM_014990:exon20:c.A2791G:p.T931A,RALGAPA1:NM_194301:exon20:c.A2791G:p.T931A exonic ENSG00000174373 NA nonsynonymous SNV ENSG00000174373:ENST00000307138:exon20:c.A2791G:p.T931A,ENSG00000174373:ENST00000389698:exon20:c.A2791G:p.T931A,ENSG00000174373:ENST00000258840:exon21:c.A2932G:p.T978A,ENSG00000174373:ENST00000382366:exon21:c.A2830G:p.T944A,ENSG00000174373:ENST00000553892:exon21:c.A2932G:p.T978A NA NA 14q13.2 NA NA Name=4 NA rs2274068 0.44 0.44 0.46 0.473842 0.1918 0.5804 0.2277 0.7557 0.4479 0.19 0.61 0.29 0.72 0.2908 0.72 0.52 T 0.0 B 0.001 B 0.237 N 1.000 P 0.345 N -3.26 D -0.924 T 0.000 T 0.179 -0.693 0.993 1.57 0.025 0.203 6.214 -0.693402 NA 0.34 0.177558 0.66069 NA 0.355 NA 8.6731754 785 18 6943264 6943264 G A exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon62:c.C8982T:p.D2994D exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon62:c.C8982T:p.D2994D Score=358;Name=lod=38 NA 18p11.31 Score=794;Name=V$CMYB_01 Name=FOXA1_(SC-101058) Name=2 NA rs2016639 0.26 0.26 0.227 0.286142 0.331 0.3413 0.4006 0.0204 0.4611 0.34 0.28 0.35 0.03 0.3307 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637762 NA NA 0.332093 0.06877 ID=COSM148377;OCCURENCE=1(stomach) 0.167 NA 8.6728736 785 1 50666515 50666515 C T exonic ELAVL4 NA nonsynonymous SNV ELAVL4:NM_021952:exon7:c.C808T:p.P270S exonic ENSG00000162374 NA nonsynonymous SNV ENSG00000162374:ENST00000371821:exon7:c.C823T:p.P275S,ENSG00000162374:ENST00000371823:exon7:c.C808T:p.P270S Score=661;Name=lod=649 NA 1p33 Score=857;Name=V$GATA1_03 NA NA NA rs2494876 0.71 0.71 0.687 0.697085 0.9006 0.6528 0.8804 0.3442 0.8804 0.89 0.66 0.88 0.37 0.8398 0.92 0.67 T 0.001 B 0.002 B 0.001 N 0.000 P 0 N 2.89 T -1.017 T 0.000 T 0.113 0.391 6.125 3.52 0.833 1.606 9.992 0.391338 NA 0.66 0.920581 0.429187 NA 0.63 NA 8.6723524 785 7 139724358 139724358 G A UTR3 PARP12 NM_022750:c.*2C>T NA NA UTR3 ENSG00000059378 ENST00000263549:c.*2C>T,ENST00000473341:c.*703C>T,ENST00000489809:c.*369C>T NA NA NA NA 7q34 NA NA NA NA rs2269996 0.33 0.33 0.313 0.314696 0.1998 0.5258 0.3646 0.326 0.1646 0.19 0.52 0.33 0.33 0.2598 0.52 0 D . . . . . . 1.000 P . . . . -0.972 T 0.000 T . -0.31 2.526 -4.92 -1.270 -0.952 9.482 -0.309723 NA NA 0.201977 0.315025 NA 0.254 NA 8.6717564 785 5 140789933 140789933 G A exonic PCDHGB6 NA nonsynonymous SNV PCDHGB6:NM_018926:exon1:c.G2164A:p.A722T,PCDHGB6:NM_032100:exon1:c.G2164A:p.A722T exonic ENSG00000253305 NA nonsynonymous SNV ENSG00000253305:ENST00000520790:exon1:c.G2164A:p.A722T NA NA 5q31.3 NA NA NA NA rs3749767 0.28 0.28 0.279 0.306709 0.1918 0.1935 0.2594 0.5265 0.2781 0.21 0.2 0.26 0.51 0.2535 0.51 0.27 T 0.002 B 0.008 B . . 1.000 P 0.695 N 2.51 T -0.968 T 0.000 T 0.011 0.28 5.515 -10.2 -3.157 -2.063 14.164 0.279981 NA NA 0.216631 0.484223 NA 0.283 NA 8.6714024 785 11 77412851 77412851 A G exonic RSF1 NA nonsynonymous SNV RSF1:NM_016578:exon6:c.T1423C:p.S475P exonic ENSG00000048649 NA nonsynonymous SNV ENSG00000048649:ENST00000480887:exon1:c.T667C:p.S223P,ENSG00000048649:ENST00000526324:exon2:c.T826C:p.S276P,ENSG00000048649:ENST00000360355:exon5:c.T1330C:p.S444P,ENSG00000048649:ENST00000308488:exon6:c.T1423C:p.S475P,ENSG00000048649:ENST00000528095:exon6:c.T1420C:p.S474P Score=329;Name=lod=29 NA 11q14.1 NA NA NA NA rs7950873 0.13 0.13 0.097 0.124201 0.2316 0.0675 0.1599 0.0272 0.1779 0.22 0.08 0.19 0.03 0.1927 0.24 0.24 T 0.412 B 0.063 B 0.072 N 0.680 P 0.805 L 1.38 T -1.112 T 0.000 T 0.426 1.431 10.72 2.51 0.917 0.838 7.052 1.430536 1.430536 0.1 0.2387 0.063182 NA 0.21 NA 8.6703334 785 3 100467018 100467018 T C exonic TFG NA synonymous SNV TFG:NM_001007565:exon8:c.T846C:p.P282P,TFG:NM_001195478:exon8:c.T846C:p.P282P,TFG:NM_001195479:exon8:c.T834C:p.P278P,TFG:NM_006070:exon8:c.T846C:p.P282P exonic ENSG00000114354 NA synonymous SNV ENSG00000114354:ENST00000240851:exon8:c.T846C:p.P282P,ENSG00000114354:ENST00000418917:exon8:c.T834C:p.P278P,ENSG00000114354:ENST00000476228:exon8:c.T834C:p.P278P,ENSG00000114354:ENST00000490574:exon8:c.T846C:p.P282P Score=598;Name=lod=359 NA 3q12.2 NA NA NA NA rs11353 0.66 0.66 0.627 0.713059 0.6412 0.6518 0.8055 0.646 0.8753 0.64 0.62 0.81 0.63 0.6993 0.81 . . . . . . . . 0.000 P . . . . -1.026 T 0.000 T . 0.06 4.324 4.77 0.953 1.055 5.793 0.059524 NA NA 0.656744 0.651838 NA 0.514 NA 8.6694226 785 1 62960101 62960101 A G exonic DOCK7 NA synonymous SNV DOCK7:NM_001272000:exon39:c.T4942C:p.L1648L,DOCK7:NM_001272001:exon39:c.T4942C:p.L1648L,DOCK7:NM_033407:exon39:c.T4969C:p.L1657L,DOCK7:NM_001271999:exon40:c.T5035C:p.L1679L exonic ENSG00000116641 NA synonymous SNV ENSG00000116641:ENST00000340370:exon39:c.T4969C:p.L1657L,ENSG00000116641:ENST00000251157:exon40:c.T5035C:p.L1679L NA NA 1p31.3 Score=880;Name=V$RORA1_01 NA NA NA rs10889335 0.31 0.31 0.308 0.349641 0.3171 0.1815 0.3573 0.4228 0.4519 0.33 0.17 0.32 0.41 0.3469 0.41 . . . . . . . . 0.000 P . . . . -1.008 T 0.000 T . 0.79 8.164 -8.68 -1.661 -0.049 22.854 0.79028 NA NA 0.333721 0.391739 NA 0.268 NA 8.6689456 785 11 64418900 64418900 G A exonic NRXN2 NA synonymous SNV NRXN2:NM_138732:exon12:c.C2625T:p.I875I,NRXN2:NM_015080:exon14:c.C2745T:p.I915I exonic ENSG00000110076 NA synonymous SNV ENSG00000110076:ENST00000377559:exon12:c.C2625T:p.I875I,ENSG00000110076:ENST00000377551:exon13:c.C2745T:p.I915I,ENSG00000110076:ENST00000409571:exon13:c.C2724T:p.I908I,ENSG00000110076:ENST00000265459:exon14:c.C2745T:p.I915I Score=505;Name=lod=150 NA 11q13.1 Score=869;Name=V$NF1_Q6 Name=CTCF Name=2 NA rs526338 0.4 0.4 0.403 0.381789 0.7137 0.2212 0.415 0.0635 0.6125 0.71 0.23 0.47 0.08 0.576 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.015152 2.015152 NA 0.708052 0.165152 NA 0.507 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117850.2;CLNDSDB=.;CLNDSDBID=. 8.6689146 785 14 75022271 75022271 G T exonic LTBP2 NA nonsynonymous SNV LTBP2:NM_000428:exon4:c.C956A:p.P319Q exonic ENSG00000119681 NA nonsynonymous SNV ENSG00000119681:ENST00000261978:exon4:c.C956A:p.P319Q,ENSG00000119681:ENST00000553939:exon4:c.C956A:p.P319Q,ENSG00000119681:ENST00000556690:exon4:c.C956A:p.P319Q NA NA 14q24.3 NA NA NA NA rs2304707 0.08 0.08 0.083 0.0876597 0.0457 0.0952 0.0648 0.1558 0.047 0.04 0.1 0.04 0.16 0.0656 0.16 0.02 D 0.877 P 0.216 B 0.767 U 1.000 P 1.245 L -1.07 T -1.096 T 0.001 T 0.296 0.313 5.695 -0.039 0.118 0.649 4.348 0.312852 NA 0.3 0.053837 0.159555 NA 0.043 NA 8.6681964 785 20 1896060 1896060 T C exonic SIRPA NA nonsynonymous SNV SIRPA:NM_001040023:exon2:c.T395C:p.V132A,SIRPA:NM_001040022:exon3:c.T395C:p.V132A,SIRPA:NM_080792:exon3:c.T395C:p.V132A exonic ENSG00000198053 NA nonsynonymous SNV ENSG00000198053:ENST00000358771:exon2:c.T395C:p.V132A,ENSG00000198053:ENST00000356025:exon3:c.T395C:p.V132A,ENSG00000198053:ENST00000400068:exon3:c.T395C:p.V132A NA NA 20p13 NA NA NA NA rs114499682 NA NA NA 0.409345 0.3171 0.625 0.4222 0.2761 0.453 NA NA NA NA 0.3484 NA 0.24 T 0.03 B 0.161 B 0.008 N 1.000 N 1.495 L -0.07 T -0.963 T 0.191 T 0.28 1.858 12.17 -4.1 -0.575 -1.908 4.562 1.858225 1.858225 0.08 NA NA ID=COSM1410605;OCCURENCE=1(large_intestine) NA NA 8.6678334 785 8 10465942 10465942 T A exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.A5666T:p.D1889V exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.A5666T:p.D1889V NA NA 8p23.1 NA NA NA NA rs28446662 0.26 0.26 0.201 0.23742 0.2147 0.3929 0.3386 0.1679 0.1227 0.22 0.42 0.28 0.13 0.2501 0.42 0.28 T 0.005 B 0.006 B . . 1.000 P 0 N 3.17 T -0.921 T 0.000 T 0.033 -0.064 3.686 -2.8 -0.837 -1.203 4.542 -0.064495 NA 0.02 0.200987 0.185963 NA 0.203 NA 8.6675464 785 2 49189921 49189921 C T exonic FSHR NA nonsynonymous SNV FSHR:NM_181446:exon9:c.G1961A:p.S654N,FSHR:NM_000145:exon10:c.G2039A:p.S680N exonic ENSG00000170820 NA nonsynonymous SNV ENSG00000170820:ENST00000541117:exon7:c.G1247A:p.S416N,ENSG00000170820:ENST00000304421:exon9:c.G1961A:p.S654N,ENSG00000170820:ENST00000346173:exon9:c.G1853A:p.S618N,ENSG00000170820:ENST00000406846:exon10:c.G2039A:p.S680N Score=371;Name=lod=43 NA 2p16.3 Score=828;Name=V$FREAC4_01 NA NA NA rs6166 0.6 0.6 0.594 0.592652 0.5507 0.6776 0.5778 0.5953 0.5552 0.55 0.69 0.59 0.58 0.5727 0.69 . . 0.0 B 0.001 B 0.001 N 1.000 P . . -0.47 T -0.922 T 0.000 T 0.031 -1.569 0.015 1.52 0.152 0.133 9.068 -1.568847 NA 0.97 0.543256 0.587381 NA 0.558 CLINSIG=drug-response|other;CLNDBN=Ovarian_response_to_FSH_stimulation|Ovarian_hyperstimulation_syndrome;CLNREVSTAT=single|single;CLNACC=RCV000017634.1|RCV000017635.1;CLNDSDB=MedGen|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1848715|C0085083:608115:129635004 8.6666774 785 1 161126745 161126745 G A exonic UFC1 NA synonymous SNV UFC1:NM_016406:exon2:c.G129A:p.V43V exonic ENSG00000143222 NA synonymous SNV ENSG00000143222:ENST00000368003:exon2:c.G129A:p.V43V Score=507;Name=lod=154 NA 1q23.3 Score=843;Name=V$FOXO4_02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952975 NA NA NA NA NA NA NA 8.6666666 785 3 99569638 99569638 T C exonic FILIP1L NA synonymous SNV FILIP1L:NM_014890:exon2:c.A162G:p.E54E,FILIP1L:NM_001042459:exon5:c.A882G:p.E294E,FILIP1L:NM_182909:exon5:c.A882G:p.E294E exonic ENSG00000168386 NA synonymous SNV ENSG00000168386:ENST00000383694:exon2:c.A162G:p.E54E,ENSG00000168386:ENST00000471562:exon2:c.A162G:p.E54E,ENSG00000168386:ENST00000495625:exon3:c.A162G:p.E54E,ENSG00000168386:ENST00000331335:exon5:c.A882G:p.E294E,ENSG00000168386:ENST00000354552:exon5:c.A882G:p.E294E Score=616;Name=lod=425 NA 3q12.1 NA NA Name=19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447102 NA NA NA NA NA NA NA 8.6666666 785 12 132490838 132490838 C G exonic EP400 NA synonymous SNV EP400:NM_015409:exon14:c.C3117G:p.V1039V exonic ENSG00000183495 NA synonymous SNV ENSG00000183495:ENST00000332482:exon13:c.C3006G:p.V1002V,ENSG00000183495:ENST00000330386:exon14:c.C3117G:p.V1039V,ENSG00000183495:ENST00000389561:exon14:c.C3117G:p.V1039V,ENSG00000183495:ENST00000389562:exon14:c.C3114G:p.V1038V,ENSG00000183495:ENST00000333577:exon15:c.C3225G:p.V1075V Score=462;Name=lod=101 NA 12q24.33 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890294 NA NA NA NA NA NA NA 8.6666666 785 2 48026799 48026799 C T exonic MSH6 NA synonymous SNV MSH6:NM_000179:exon4:c.C1677T:p.C559C exonic ENSG00000116062 NA synonymous SNV ENSG00000116062:ENST00000540021:exon2:c.C1287T:p.C429C,ENSG00000116062:ENST00000234420:exon4:c.C1677T:p.C559C,ENSG00000116062:ENST00000538136:exon4:c.C771T:p.C257C Score=493;Name=lod=135 NA 2p16.3 NA Name=BCL3 NA NA rs63749893 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008266 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057606 NA NA NA NA NA NA CLINSIG=unknown;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074679.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 8.6666583 785 20 8745817 8745817 G A exonic PLCB1 NA synonymous SNV PLCB1:NM_015192:exon26:c.G2742A:p.K914K,PLCB1:NM_182734:exon26:c.G2742A:p.K914K exonic ENSG00000182621 NA synonymous SNV ENSG00000182621:ENST00000338037:exon26:c.G2742A:p.K914K,ENSG00000182621:ENST00000378637:exon26:c.G2742A:p.K914K,ENSG00000182621:ENST00000378641:exon26:c.G2742A:p.K914K Score=457;Name=lod=96 NA 20p12.3 Score=836;Name=V$RFX1_02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002492 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109695 NA NA NA NA NA NA NA 8.6666417 785 19 4028798 4028798 G C exonic PIAS4 NA synonymous SNV PIAS4:NM_015897:exon6:c.G753C:p.L251L exonic ENSG00000105229 NA synonymous SNV ENSG00000105229:ENST00000262971:exon6:c.G753C:p.L251L Score=589;Name=lod=329 NA 19p13.3 Score=798;Name=V$COMP1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151904 NA NA NA NA NA NA NA 8.6666416 785 19 42213898 42213898 C T exonic CEACAM5 NA synonymous SNV CEACAM5:NM_004363:exon2:c.C364T:p.L122L exonic ENSG00000105388,ENSG00000267881 NA synonymous SNV ENSG00000105388:ENST00000221992:exon2:c.C364T:p.L122L,ENSG00000105388:ENST00000398599:exon2:c.C364T:p.L122L,ENSG00000105388:ENST00000405816:exon2:c.C364T:p.L122L,ENSG00000267881:ENST00000598976:exon2:c.C364T:p.L122L NA NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003341 NA . . . . . . . . 1.000 N . . . . -1.000 T 0.058 T . -0.385 2.194 -0.993 0.156 -1.767 5.338 -0.3845 NA NA NA NA NA NA NA 8.6666332 785 10 99358629 99358629 C T exonic HOGA1 NA synonymous SNV HOGA1:NM_138413:exon2:c.C309T:p.N103N exonic ENSG00000241935 NA synonymous SNV ENSG00000241935:ENST00000370646:exon2:c.C309T:p.N103N Score=471;Name=lod=109 NA 10q24.2 NA NA Name=6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004943 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043967 NA NA NA NA NA NA NA 8.6666172 785 20 45221159 45221159 C T exonic SLC13A3 NA synonymous SNV SLC13A3:NM_001193342:exon6:c.G510A:p.P170P,SLC13A3:NM_022829:exon6:c.G804A:p.P268P,SLC13A3:NM_001011554:exon7:c.G663A:p.P221P,SLC13A3:NM_001193340:exon7:c.G663A:p.P221P exonic ENSG00000158296 NA synonymous SNV ENSG00000158296:ENST00000495082:exon5:c.G663A:p.P221P,ENSG00000158296:ENST00000279027:exon6:c.G804A:p.P268P,ENSG00000158296:ENST00000290317:exon6:c.G663A:p.P221P,ENSG00000158296:ENST00000396360:exon6:c.G663A:p.P221P,ENSG00000158296:ENST00000472148:exon6:c.G663A:p.P221P,ENSG00000158296:ENST00000468915:exon8:c.G663A:p.P221P NA NA 20q13.12 NA NA NA NA rs139819116 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004977 0.0005 . . . . . . . . 1.000 D . . . . -0.784 T 0.130 T . 0.91 8.703 -10.6 -3.351 -0.581 7.243 0.910273 NA NA 0 0.000454 ID=COSM189078;OCCURENCE=1(large_intestine) NA NA 8.6666168 785 19 21910313 21910313 C G exonic ZNF100 NA synonymous SNV ZNF100:NM_173531:exon5:c.G801C:p.G267G exonic ENSG00000197020 NA synonymous SNV ENSG00000197020:ENST00000305570:exon4:c.G609C:p.G203G,ENSG00000197020:ENST00000358296:exon5:c.G801C:p.G267G Score=366;Name=lod=41 NA 19p12 NA Name=ZNF274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164785 NA NA NA NA NA NA NA 8.6666164 785 11 64876383 64876383 C T exonic VPS51 NA synonymous SNV VPS51:NM_013265:exon5:c.C1440T:p.F480F exonic ENSG00000149823 NA synonymous SNV ENSG00000149823:ENST00000279281:exon5:c.C1440T:p.F480F Score=585;Name=lod=317 NA 11q13.1 NA Name=FOXA1_(C-20),ERalpha_a,c-Myc,Pol2,GATA3_(SC-268),p300 Name=5 NA rs143862116 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005185 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386751 NA NA NA NA NA NA NA 8.6666148 785 12 133384698 133384698 C T exonic GOLGA3 NA synonymous SNV GOLGA3:NM_001172557:exon5:c.G957A:p.S319S,GOLGA3:NM_005895:exon5:c.G957A:p.S319S exonic ENSG00000090615 NA synonymous SNV ENSG00000090615:ENST00000450791:exon4:c.G957A:p.S319S,ENSG00000090615:ENST00000537452:exon4:c.G957A:p.S319S,ENSG00000090615:ENST00000204726:exon5:c.G957A:p.S319S,ENSG00000090615:ENST00000456883:exon5:c.G957A:p.S319S,ENSG00000090615:ENST00000545875:exon5:c.G957A:p.S319S Score=417;Name=lod=66 NA 12q24.33 Score=707;Name=V$NRSF_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589333 NA NA NA NA NA NA NA 8.6666064 785 7 20824833 20824833 G A exonic SP8 NA synonymous SNV SP8:NM_182700:exon2:c.C603T:p.H201H,SP8:NM_198956:exon3:c.C549T:p.H183H exonic ENSG00000164651 NA synonymous SNV ENSG00000164651:ENST00000418710:exon2:c.C603T:p.H201H,ENSG00000164651:ENST00000361443:exon3:c.C549T:p.H183H Score=715;Name=lod=1072 NA 7p21.1 Score=855;Name=V$CEBPB_02 Name=CTCF NA NA rs374176171 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35515 NA 0 0.000138 0 NA NA NA 8.6663286 785 19 41307140 41307140 C T exonic EGLN2 NA synonymous SNV EGLN2:NM_053046:exon2:c.C663T:p.D221D,EGLN2:NM_080732:exon2:c.C663T:p.D221D exonic ENSG00000269858 NA synonymous SNV ENSG00000269858:ENST00000593726:exon1:c.C663T:p.D221D,ENSG00000269858:ENST00000303961:exon2:c.C663T:p.D221D,ENSG00000269858:ENST00000406058:exon2:c.C663T:p.D221D Score=577;Name=lod=296 NA 19q13.2 Score=743;Name=V$TAXCREB_02 Name=Pol2-4H8 NA NA rs150973573 0.0032 0.0032 NA 0.00199681 NA NA 0.0058 0.0045 NA NA NA 0.01 0.01 0.0007 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041245 NA NA 0.000116 0.004087 ID=COSM1393896;OCCURENCE=1(large_intestine) NA NA 8.6658506 785 14 93299631 93299631 C T exonic GOLGA5 NA synonymous SNV GOLGA5:NM_005113:exon10:c.C1884T:p.S628S exonic ENSG00000066455 NA synonymous SNV ENSG00000066455:ENST00000163416:exon10:c.C1884T:p.S628S,ENSG00000066455:ENST00000355976:exon10:c.C1884T:p.S628S NA NA 14q32.12 NA NA NA NA rs371855374 NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.0002 0.0005 . . . . . . . . 1.000 N . . . . -1.028 T 0.059 T . 1.413 10.66 -10.4 -2.363 -1.218 8.666 1.413176 1.413176 NA 0.000465 0 NA NA NA 8.6650016 786 14 21936855 21936855 T G exonic RAB2B NA synonymous SNV RAB2B:NM_001163380:exon3:c.A105C:p.G35G,RAB2B:NM_032846:exon4:c.A243C:p.G81G exonic ENSG00000129472 NA synonymous SNV ENSG00000129472:ENST00000397762:exon4:c.A243C:p.G81G Score=635;Name=lod=510 NA 14q11.2 Score=925;Name=V$LMO2COM_01 NA NA NA NA NA NA NA 0.00339457 NA NA NA NA 0.0174 NA NA NA NA 0.0018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.508784 1.508784 NA NA NA NA NA NA 8.6648666 786 22 29704662 29704662 C T exonic GAS2L1 NA synonymous SNV GAS2L1:NM_152237:exon2:c.C567T:p.P189P exonic ENSG00000185340 NA synonymous SNV ENSG00000185340:ENST00000471961:exon1:c.C567T:p.P189P,ENSG00000185340:ENST00000341313:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000360113:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000403764:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000406549:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000407647:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000407854:exon2:c.C567T:p.P189P NA NA 22q12.2 NA Name=Egr-1 Name=5 NA NA NA NA NA 0.00119808 NA NA NA NA 0.0061 NA NA NA NA 0.0018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876715 NA NA NA NA NA NA NA 8.6648666 786 8 24771984 24771984 G T exonic NEFM NA synonymous SNV NEFM:NM_005382:exon1:c.G678T:p.S226S exonic ENSG00000104722 NA synonymous SNV ENSG00000104722:ENST00000221166:exon1:c.G678T:p.S226S,ENSG00000104722:ENST00000437366:exon1:c.G678T:p.S226S,ENSG00000104722:ENST00000518131:exon1:c.G678T:p.S226S Score=823;Name=lod=2949 NA 8p21.2 Score=855;Name=V$CHOP_01 NA Name=81 NA rs61735463 NA NA NA 0.00199681 0.001 NA NA 0.0068 NA NA NA NA NA 0.0008 0.0066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956319 NA NA 0.000465 0.006582 NA NA NA 8.6644016 786 1 36937065 36937065 A G exonic CSF3R NA synonymous SNV CSF3R:NM_000760:exon10:c.T1254C:p.R418R,CSF3R:NM_156039:exon10:c.T1254C:p.R418R,CSF3R:NM_172313:exon10:c.T1254C:p.R418R exonic ENSG00000119535 NA synonymous SNV ENSG00000119535:ENST00000331941:exon8:c.T1254C:p.R418R,ENSG00000119535:ENST00000338937:exon8:c.T1254C:p.R418R,ENSG00000119535:ENST00000418048:exon8:c.T1254C:p.R418R,ENSG00000119535:ENST00000440588:exon8:c.T1254C:p.R418R,ENSG00000119535:ENST00000361632:exon9:c.T1254C:p.R418R,ENSG00000119535:ENST00000373103:exon10:c.T1254C:p.R418R,ENSG00000119535:ENST00000373104:exon10:c.T1254C:p.R418R,ENSG00000119535:ENST00000373106:exon10:c.T1254C:p.R418R NA NA 1p34.3 NA NA NA NA rs3917980 0.21 0.21 0.157 0.246406 0.338 0.13 0.2003 0.1717 0.4059 0.34 0.1 0.24 0.14 0.3156 0.35 . . . . . . . . 0.060 P . . . . -0.971 T 0.000 T . -0.82 0.623 -8.29 -1.460 -2.296 4.022 -0.820494 NA NA 0.348721 0.20404 NA 0.203 NA 8.6643456 786 9 139693596 139693596 T C exonic KIAA1984 NA nonsynonymous SNV KIAA1984:NM_001039374:exon2:c.T113C:p.M38T exonic ENSG00000213213 NA nonsynonymous SNV ENSG00000213213:ENST00000338005:exon2:c.T113C:p.M38T,ENSG00000213213:ENST00000479371:exon2:c.T113C:p.M38T NA NA 9q34.3 NA Name=p300,FOXA1_(SC-101058),HDAC2_(SC-6296),c-Myc,HEY1 Name=11 NA rs945386 0.25 0.25 0.244 0.273363 0.2147 0.2421 0.2968 0.3374 0.2628 0.21 0.22 0.27 0.33 0.2374 0.33 0.43 T 0.0 B 0.0 B 0.974 N 1.000 P -0.665 N 2.82 T -0.895 T 0.000 T 0.061 -0.661 1.102 1.02 -0.124 0.284 7.377 -0.660878 NA 0.22 0.217459 0.299265 NA 0.152 NA 8.6637744 786 12 56094816 56094816 C T exonic ITGA7 NA synonymous SNV ITGA7:NM_001144996:exon4:c.G537A:p.G179G,ITGA7:NM_001144997:exon4:c.G246A:p.G82G,ITGA7:NM_002206:exon4:c.G537A:p.G179G exonic ENSG00000135424 NA synonymous SNV ENSG00000135424:ENST00000557257:exon2:c.G63A:p.G21G,ENSG00000135424:ENST00000257879:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000257880:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000347027:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000394229:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000394230:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000452168:exon4:c.G246A:p.G82G,ENSG00000135424:ENST00000553804:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000555728:exon4:c.G537A:p.G179G Score=622;Name=lod=448 NA 12q13.2 Score=1000;Name=V$MZF1_01 Name=c-Jun NA NA rs145463677 0.0014 0.0014 0 0.000798722 0.002 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA 0.0008 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593918 NA NA 0.001047 0.000454 NA NA NA 8.6628196 786 7 103969525 103969525 C T exonic LHFPL3 NA synonymous SNV LHFPL3:NM_199000:exon1:c.C298T:p.L100L exonic ENSG00000187416 NA synonymous SNV ENSG00000187416:ENST00000401970:exon1:c.C256T:p.L86L,ENSG00000187416:ENST00000424859:exon1:c.C256T:p.L86L,ENSG00000187416:ENST00000535008:exon1:c.C298T:p.L100L,ENSG00000187416:ENST00000543266:exon1:c.C298T:p.L100L Score=831;Name=lod=3182 NA 7q22.2 Score=786;Name=V$AHR_01 NA Name=3 NA rs185070516 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0009 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996819 NA NA 0.000952 0 NA NA NA 8.6628146 786 4 111409705 111409705 T C exonic ENPEP NA nonsynonymous SNV ENPEP:NM_001977:exon2:c.T653C:p.V218A exonic ENSG00000138792 NA nonsynonymous SNV ENSG00000138792:ENST00000265162:exon2:c.T653C:p.V218A Score=620;Name=lod=442 NA 4q25 NA NA NA NA rs1126483 0.55 0.55 0.519 0.509984 0.5427 0.6488 0.5245 0.3722 0.5092 0.55 0.69 0.55 0.38 0.5771 0.69 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.415 N 4.25 T -1.003 T 0.000 T 0.096 0.07 4.381 4.18 0.515 5.788 9.942 0.070357 NA 1 0.552326 0.427372 ID=COSM1131302;OCCURENCE=1(prostate) 0.493 NA 8.6612074 786 16 25263278 25263278 G A exonic ZKSCAN2 NA nonsynonymous SNV ZKSCAN2:NM_001012981:exon4:c.C757T:p.L253F exonic ENSG00000155592 NA nonsynonymous SNV ENSG00000155592:ENST00000328086:exon4:c.C757T:p.L253F NA NA 16p12.1 NA NA NA NA rs2112811 0.3 0.3 0.311 0.334665 0.2107 0.3284 0.3026 0.475 0.3016 0.21 0.31 0.25 0.48 0.254 0.48 0.35 T 0.108 B 0.17 B 0.024 N 1.000 P 2.625 M 5.1 T -1.017 T 0.000 T 0.097 0.372 6.02 2.52 0.866 0.592 8.299 0.372047 NA 0.25 0.207558 0.452208 ID=COSM148056;OCCURENCE=1(stomach),1(prostate) 0.37 NA 8.6610754 786 10 115804956 115804956 C A exonic ADRB1 NA synonymous SNV ADRB1:NM_000684:exon1:c.C1065A:p.P355P exonic ENSG00000043591 NA synonymous SNV ENSG00000043591:ENST00000369295:exon1:c.C1065A:p.P355P Score=747;Name=lod=1448 NA 10q25.3 NA Name=ELF1_(SC-631),Max,PAX5-C20 Name=23 NA rs141633952 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.002 0.0037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06735 NA NA 0.003743 0.000912 NA NA NA 8.6609236 786 1 152193286 152193286 G T exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.C819A:p.H273Q exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C819A:p.H273Q NA NA 1q21.3 NA NA NA NA rs7545406 0.4 0.4 0.374 0.345847 0.5855 0.2917 0.2795 0.2088 0.3875 0.59 0.32 0.36 0.22 0.4964 0.59 0.67 T 0.001 B 0.001 B . . 1.000 P 0.205 N 4.09 T -0.901 T 0.001 T 0.014 0.17 4.913 -8.81 -3.578 -4.851 0.981 0.169574 NA 0.07 0.591047 0.263504 ID=COSM146613;OCCURENCE=1(stomach) 0.377 NA 8.6603864 786 6 152708310 152708310 G A exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon54:c.C8405T:p.A2802V,SYNE1:NM_182961:exon54:c.C8384T:p.A2795V exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000265368:exon54:c.C8384T:p.A2795V,ENSG00000131018:ENST00000367255:exon54:c.C8384T:p.A2795V,ENSG00000131018:ENST00000423061:exon54:c.C8405T:p.A2802V,ENSG00000131018:ENST00000448038:exon55:c.C8405T:p.A2802V,ENSG00000131018:ENST00000341594:exon57:c.C8501T:p.A2834V NA NA 6q25.2 NA NA NA NA rs214950 0.26 0.26 0.267 0.249002 0.2167 0.4018 0.1614 0.152 0.318 0.22 0.44 0.2 0.15 0.2373 0.44 0.21 T 0.094 B 0.012 B 0.021 N 0.981 P 0.69 N 1.27 T -1.029 T 0.017 T 0.046 0.09 4.484 1.51 0.350 4.552 2.148 0.089763 NA 0.06 0.218953 0.15842 NA 0.21 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118492.2;CLNDSDB=.;CLNDSDBID=. 8.6603804 786 6 32609813 32609813 T C exonic HLA-DQA1 NA synonymous SNV HLA-DQA1:NM_002122:exon3:c.T396C:p.I132I exonic ENSG00000196735 NA synonymous SNV ENSG00000196735:ENST00000343139:exon3:c.T396C:p.I132I,ENSG00000196735:ENST00000374949:exon3:c.T396C:p.I132I,ENSG00000196735:ENST00000395363:exon3:c.T396C:p.I132I,ENSG00000196735:ENST00000496318:exon3:c.T396C:p.I132I Score=393;Name=lod=53 NA 6p21.32 NA Name=Pol2,Pol2-4H8 Name=3 NA rs707951 0.66 0.66 0.582 0.673722 0.6759 0.7024 0.7767 0.5605 0.7219 0.66 0.74 0.75 0.52 0.6761 0.75 . . . . . . . . 0.000 P . . . . -1.055 T 0.085 T . -0.143 3.303 3.23 0.521 0.767 8.409 -0.14256 NA NA 0.6543 0.505625 NA 0.616 NA 8.6603666 786 11 118922603 118922603 C T exonic HYOU1 NA synonymous SNV HYOU1:NM_001130991:exon12:c.G1266A:p.Q422Q,HYOU1:NM_006389:exon12:c.G1266A:p.Q422Q exonic ENSG00000149428 NA synonymous SNV ENSG00000149428:ENST00000543287:exon11:c.G1005A:p.Q335Q,ENSG00000149428:ENST00000404233:exon12:c.G1266A:p.Q422Q,ENSG00000149428:ENST00000529972:exon12:c.G1266A:p.Q422Q,ENSG00000149428:ENST00000530473:exon12:c.G1266A:p.Q422Q,ENSG00000149428:ENST00000525859:exon13:c.G1266A:p.Q422Q Score=512;Name=lod=161 NA 11q23.3 NA Name=PAX5-N19,NFKB,Pol2-4H8,YY1,EBF1_(C-8),Oct-2,ELF1_(SC-631),YY1_(C-20),PU.1,Pol2,POU2F2,TAF1 Name=7 NA rs75379910 0.02 0.02 0.027 0.0147764 0.001 NA 0.0072 0.0514 NA 0.0013 NA 0.01 0.09 0.0046 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964225 NA NA 0.001281 0.045 NA 0.022 NA 8.6597856 786 7 94898811 94898811 G A exonic PPP1R9A NA nonsynonymous SNV PPP1R9A:NM_001166161:exon12:c.G2996A:p.R999Q,PPP1R9A:NM_001166162:exon12:c.G3050A:p.R1017Q,PPP1R9A:NM_001166160:exon14:c.G3116A:p.R1039Q exonic ENSG00000158528 NA nonsynonymous SNV ENSG00000158528:ENST00000289495:exon12:c.G2996A:p.R999Q,ENSG00000158528:ENST00000456331:exon12:c.G3050A:p.R1017Q,ENSG00000158528:ENST00000424654:exon13:c.G3050A:p.R1017Q,ENSG00000158528:ENST00000433360:exon14:c.G3116A:p.R1039Q Score=361;Name=lod=39 NA 7q21.3 NA NA NA NA rs854524 0.6 0.6 0.598 0.604832 0.5457 0.619 0.6599 0.6823 0.5072 0.53 0.61 0.64 0.65 0.5722 0.68 0.83 T 0.0 B 0.0 B . . 0.000 P . . 2.6 T -0.998 T 0.000 T 0.022 -0.045 3.784 2.47 0.460 1.685 7.171 -0.045034 NA 1 0.557247 0.678571 NA 0.71 NA 8.6581864 786 1 17030615 17030615 G A ncRNA_exonic ESPNP NA NA NA ncRNA_exonic ENSG00000268869 NA NA NA Score=498;Name=lod=141 NA 1p36.13 Score=767;Name=V$PAX5_01 Name=ZNF263 Name=20 NA rs200500243 NA NA 0.003 NA NA NA NA NA NA NA NA NA NA 0.009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195567 NA NA NA NA NA NA NA 8.6576666 786 3 30715608 30715608 A G exonic TGFBR2 NA synonymous SNV TGFBR2:NM_003242:exon5:c.A1266G:p.A422A,TGFBR2:NM_001024847:exon6:c.A1341G:p.A447A exonic ENSG00000163513 NA synonymous SNV ENSG00000163513:ENST00000295754:exon5:c.A1266G:p.A422A,ENSG00000163513:ENST00000359013:exon6:c.A1341G:p.A447A Score=545;Name=lod=218 NA 3p24.1 Score=799;Name=V$CDPCR3_01 NA NA NA rs2228047 0.03 0.03 0.026 0.0311502 NA 0.001 0.0058 0.1127 0.002 NA NA 0.01 0.12 0.0088 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.539401 1.539401 NA 0.000814 0.091693 NA 0.029 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Loeys-Dietz_syndrome|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000030547.1|RCV000037731.1|RCV000125491.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|.;CLNDSDBID=NBK1133:C2697932:446263001|.|. 8.6570526 786 3 361508 361508 C T exonic CHL1 NA nonsynonymous SNV CHL1:NM_001253388:exon1:c.C49T:p.L17F,CHL1:NM_001253387:exon3:c.C49T:p.L17F,CHL1:NM_006614:exon3:c.C49T:p.L17F exonic ENSG00000134121 NA nonsynonymous SNV ENSG00000134121:ENST00000427688:exon2:c.C49T:p.L17F,ENSG00000134121:ENST00000435603:exon2:c.C49T:p.L17F,ENSG00000134121:ENST00000256509:exon3:c.C49T:p.L17F,ENSG00000134121:ENST00000397491:exon3:c.C49T:p.L17F,ENSG00000134121:ENST00000421198:exon3:c.C49T:p.L17F,ENSG00000134121:ENST00000449294:exon3:c.C49T:p.L17F NA NA 3p26.3 NA NA NA NA rs2272522 0.31 0.31 0.316 0.352037 0.2048 0.3085 0.2378 0.5643 0.3425 0.19 0.31 0.23 0.55 0.2697 0.55 1 T 0.001 B 0.003 B 0.099 N 1.000 P 0 N 1.01 T -0.975 T 0.000 T 0.331 -1.15 0.103 -2.03 -0.954 -0.166 10.765 -1.149599 NA 1 0.202326 0.517257 ID=COSM149325;OCCURENCE=1(stomach),1(large_intestine) 0.326 NA 8.6565074 786 5 108714298 108714298 T C exonic PJA2 NA nonsynonymous SNV PJA2:NM_014819:exon4:c.A890G:p.Q297R exonic ENSG00000198961 NA nonsynonymous SNV ENSG00000198961:ENST00000361557:exon3:c.A890G:p.Q297R,ENSG00000198961:ENST00000361189:exon4:c.A890G:p.Q297R Score=251;Name=lod=14 NA 5q21.3 NA NA NA NA rs1045706 0.31 0.31 0.27 0.320887 0.5895 0.0565 0.4712 0.0643 0.5573 0.59 0.04 0.47 0.08 0.4965 0.59 0.85 T 0.001 B 0.001 B 0.035 N 1.000 P 1.61 L 3.43 T -0.921 T 0.000 T 0.05 -1.288 0.04 2.88 1.054 0.437 1.742 -1.287968 NA 0.17 0.59186 0.156676 NA 0.377 NA 8.6554734 787 10 99376152 99376152 A G exonic MORN4 NA synonymous SNV MORN4:NM_001098831:exon5:c.T309C:p.P103P,MORN4:NM_178832:exon5:c.T309C:p.P103P exonic ENSG00000171160 NA stoploss ENSG00000171160:ENST00000478953:exon4:c.T199C:p.X67R NA NA 10q24.2 NA NA NA NA rs3814556 0.32 0.32 0.301 0.334465 0.1978 0.2837 0.2608 0.6142 0.2014 0.19 0.28 0.26 0.61 0.262 0.61 . . . . . . . . 0.000 P . . . . . . . . . -0.539 1.553 -10.1 -3.319 -2.921 3.474 -0.5387 NA NA 0.219651 0.541307 ID=COSM147021,COSM147022;OCCURENCE=1(stomach) 0.348 NA 8.6538823 787 19 12975884 12975884 C T exonic MAST1 NA synonymous SNV MAST1:NM_014975:exon14:c.C1530T:p.H510H exonic ENSG00000105613 NA synonymous SNV ENSG00000105613:ENST00000251472:exon14:c.C1530T:p.H510H Score=542;Name=lod=212 NA 19p13.2 Score=802;Name=V$XBP1_01 Name=TCF4 NA NA rs35952311 0 0 NA 0.00259585 0.003 NA 0.0014 NA 0.0092 NA NA NA NA 0.0043 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556803 NA NA 0.006628 0.001362 NA 0.007 NA 8.6527386 787 10 115411614 115411614 A G exonic NRAP NA nonsynonymous SNV NRAP:NM_001261463:exon7:c.T623C:p.V208A,NRAP:NM_006175:exon7:c.T623C:p.V208A,NRAP:NM_198060:exon7:c.T623C:p.V208A exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000359988:exon7:c.T623C:p.V208A,ENSG00000197893:ENST00000360478:exon7:c.T623C:p.V208A,ENSG00000197893:ENST00000369358:exon7:c.T623C:p.V208A,ENSG00000197893:ENST00000369360:exon7:c.T623C:p.V208A Score=317;Name=lod=26 NA 10q25.3 Score=782;Name=V$PAX5_02 NA NA NA rs2154028 0.88 0.88 0.872 0.877596 0.8936 0.9038 0.9107 0.8086 0.9039 0.89 0.92 0.9 0.81 0.8952 0.92 0.56 T 0.0 B 0.002 B 0.000 N 0.000 P -0.07 N 2.61 T -1.015 T 0.000 T 0.075 -0.625 1.228 5.13 0.907 2.211 9.734 -0.624843 NA 1 0.892209 0.823423 NA 0.913 NA 8.6523244 787 3 47125385 47125385 G A exonic SETD2 NA nonsynonymous SNV SETD2:NM_014159:exon12:c.C5885T:p.P1962L exonic ENSG00000181555 NA nonsynonymous SNV ENSG00000181555:ENST00000409792:exon12:c.C5885T:p.P1962L Score=289;Name=lod=20 NA 3p21.31 NA NA Name=13 NA rs4082155 0.5 0.5 0.452 0.469848 0.5825 0.5327 0.5187 0.236 0.5706 0.58 0.53 0.54 0.29 0.5342 0.58 0.6 T 0.001 B 0.002 B 0.655 N 0.090 P 0.345 N 1.98 T -0.947 T 0.000 T 0.195 1.669 11.54 2.94 0.333 0.529 5.284 1.669445 1.669445 0.01 0.566163 0.286201 ID=COSM149376,COSM149375;OCCURENCE=1(stomach) 0.522 NA 8.6504704 787 17 10538728 10538728 G A exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon30:c.C4128T:p.Y1376Y exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon29:c.C4128T:p.Y1376Y,ENSG00000109063:ENST00000583535:exon30:c.C4128T:p.Y1376Y NA NA 17p13.1 NA Name=CTCF,CTCF_(SC-5916) Name=3 NA rs112569418 0.01 0.01 0.014 0.0165735 0.003 NA 0.013 0.0484 0.0072 0.004 NA 0.02 0.04 0.0085 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201406 NA NA 0.005116 0.037222 ID=COSM1640586;OCCURENCE=1(stomach) 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117673.2;CLNDSDB=.;CLNDSDBID=. 8.6500506 787 20 55748206 55748206 G A intronic BMP7 NA NA NA exonic ENSG00000101144 NA nonsynonymous SNV ENSG00000101144:ENST00000450594:exon6:c.C1196T:p.A399V NA NA 20q13.31 NA Name=Egr-1 NA NA rs2148328 0.47 0.47 0.414 0.407548 0.4881 0.6667 0.4452 0.1959 0.317 0.51 0.67 0.45 0.18 0.5251 0.67 1 T 0.0 B 0.0 B . . 1.000 P . . -1.29 T -1.004 T 0.000 T 0.036 0.605 7.262 -7.72 -2.950 -1.635 0.715 0.605402 NA 0.52 0.50407 0.248865 NA 0.304 NA 8.6493967 787 6 31106489 31106489 G A exonic PSORS1C1 NA nonsynonymous SNV PSORS1C1:NM_014068:exon5:c.G100A:p.E34K exonic ENSG00000204540 NA nonsynonymous SNV ENSG00000204540:ENST00000259881:exon5:c.G100A:p.E34K NA NA 6p21.33 NA NA NA NA rs1265096 0.03 0.03 0.023 0.0169728 0.0656 NA 0.0115 0.0053 0.0041 0.08 NA 0.01 0.01 0.0519 0.08 0.33 T 0.838 P 0.101 B . . 1.000 N 0 N 2.52 T -0.933 T 0.004 T 0.059 1.278 10.18 0.351 -0.095 -2.035 4.938 1.27814 1.27814 0.4 0.06663 0.016545 NA 0.072 NA 8.6492034 787 9 134385435 134385435 C T exonic POMT1 NA stopgain POMT1:NM_007171:exon8:c.C751T:p.Q251X exonic ENSG00000130714 NA stopgain ENSG00000130714:ENST00000441334:exon6:c.C400T:p.Q134X,ENSG00000130714:ENST00000448212:exon7:c.C589T:p.Q197X,ENSG00000130714:ENST00000372228:exon8:c.C751T:p.Q251X NA NA 9q34.13 NA NA NA NA rs3887873 0.07 0.07 0.051 0.0786741 0.1461 0.001 0.0793 0.1248 0.0266 0.11 0.0017 0.08 0.07 0.1035 0.11 . . . . . . 0.001 U 0.000 P . . . . . . . . . 1.822 12.05 -1.1 -0.288 -0.097 2.810 1.821679 1.821679 0.8 0.101279 0.08965 NA NA CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000081492.3|RCV000127574.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.649121 787 9 140611121 140611121 A T exonic EHMT1 NA synonymous SNV EHMT1:NM_001145527:exon3:c.A129T:p.A43A,EHMT1:NM_024757:exon3:c.A129T:p.A43A exonic ENSG00000181090 NA synonymous SNV ENSG00000181090:ENST00000334856:exon3:c.A36T:p.A12A,ENSG00000181090:ENST00000460843:exon3:c.A129T:p.A43A,ENSG00000181090:ENST00000462484:exon3:c.A129T:p.A43A Score=387;Name=lod=50 NA 9q34.3 NA NA Name=6 NA rs76684726 0.03 0.03 0.034 0.0473243 0.004 NA 0.0187 0.1664 NA NA NA 0.01 0.14 0.0146 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443826 1.443826 NA 0.002094 0.126192 NA 0.029 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082215.3;CLNDSDB=.;CLNDSDBID=. 8.6459726 787 6 33281505 33281505 C A exonic TAPBP NA synonymous SNV TAPBP:NM_003190:exon2:c.G174T:p.P58P,TAPBP:NM_172208:exon2:c.G174T:p.P58P,TAPBP:NM_172209:exon2:c.G174T:p.P58P exonic ENSG00000231925 NA synonymous SNV ENSG00000231925:ENST00000426633:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000434618:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000456592:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000475304:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000489157:exon2:c.G174T:p.P58P NA NA 6p21.32 Score=829;Name=V$EGR1_01 Name=EBF,Pol2,TBP,BAF155,CEBPB,EBF1_(C-8) Name=111 NA rs45501592 0.0014 0.0014 0.003 0.00339457 0.0089 NA 0.0029 0.0008 0.0051 0.004 NA NA NA 0.0051 0.0076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104785 NA NA 0.007572 0.001366 NA NA NA 8.6450946 788 9 140707889 140707889 G A exonic EHMT1 NA synonymous SNV EHMT1:NM_024757:exon21:c.G3087A:p.V1029V exonic ENSG00000181090 NA synonymous SNV ENSG00000181090:ENST00000462942:exon16:c.G1944A:p.V648V,ENSG00000181090:ENST00000460843:exon21:c.G3087A:p.V1029V Score=358;Name=lod=38 NA 9q34.3 NA Name=BCL3 NA NA rs11137244 0.04 0.04 0.034 0.0541134 0.004 NA 0.0202 0.1914 NA NA NA 0.02 0.15 0.0156 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307439 NA NA 0.002326 0.145483 NA 0.036 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116961.2;CLNDSDB=.;CLNDSDBID=. 8.6447406 788 6 29911190 29911190 G A exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon3:c.G489A:p.A163A,HLA-A:NM_002116:exon3:c.G489A:p.A163A exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376802:exon3:c.G489A:p.A163A,ENSG00000206503:ENST00000376806:exon3:c.G489A:p.A163A,ENSG00000206503:ENST00000376809:exon3:c.G489A:p.A163A,ENSG00000206503:ENST00000396634:exon5:c.G489A:p.A163A NA NA 6p22.1 NA Name=Pol2-4H8 Name=10 NA rs1059514 0.48 0.48 0.325 0.483227 0.5209 0.5675 0.4885 0.3525 0.5307 0.54 0.51 0.41 0.38 0.5036 0.54 . . . . . . . . 0.000 P . . . . . . . . . -0.462 1.866 -0.398 0.021 -1.205 5.502 -0.461526 NA NA NA NA NA 0.457 NA 8.6421666 788 11 118404196 118404196 A C exonic TMEM25 NA synonymous SNV TMEM25:NM_001144037:exon5:c.A735C:p.A245A,TMEM25:NM_032780:exon5:c.A735C:p.A245A exonic ENSG00000149582 NA synonymous SNV ENSG00000149582:ENST00000528373:exon4:c.A444C:p.A148A,ENSG00000149582:ENST00000544878:exon4:c.A444C:p.A148A,ENSG00000149582:ENST00000313236:exon5:c.A735C:p.A245A,ENSG00000149582:ENST00000354284:exon5:c.A735C:p.A245A,ENSG00000149582:ENST00000533102:exon5:c.A735C:p.A245A Score=510;Name=lod=157 NA 11q23.3 NA NA NA NA rs7129371 0.06 0.06 0.06 0.0666933 0.005 NA 0.0259 0.2352 NA 0.004 NA 0.02 0.22 0.0183 0.22 . . . . . . . . 0.000 P . . . . -1.027 T 0.000 T . 1.559 11.17 2.92 0.388 0.089 2.679 1.559104 1.559104 NA 0.001746 0.180455 NA 0.051 NA 8.6416206 788 10 115922774 115922774 G A exonic C10orf118 NA nonsynonymous SNV C10orf118:NM_018017:exon2:c.C254T:p.T85I exonic ENSG00000165813 NA nonsynonymous SNV ENSG00000165813:ENST00000369286:exon2:c.C254T:p.T85I,ENSG00000165813:ENST00000369287:exon2:c.C254T:p.T85I,ENSG00000165813:ENST00000369285:exon3:c.C254T:p.T85I NA NA 10q25.3 NA NA NA NA rs1061159 0.21 0.21 0.223 0.207268 0.2505 0.0585 0.2349 0.3434 0.1125 0.24 0.06 0.25 0.31 0.206 0.32 0.43 T 0.0 B 0.0 B 0.482 N 1.000 P 0.55 N 1.87 T -1.024 T 0.000 T 0.017 -1.196 0.074 -9.53 -1.547 -0.821 19.155 -1.196215 NA 0.27 0.235349 0.316614 NA 0.167 NA 8.6414844 788 12 111884608 111884608 T C exonic SH2B3 NA nonsynonymous SNV SH2B3:NM_005475:exon3:c.T784C:p.W262R exonic ENSG00000111252 NA nonsynonymous SNV ENSG00000111252:ENST00000538307:exon2:c.T178C:p.W60R,ENSG00000111252:ENST00000341259:exon3:c.T784C:p.W262R NA Name=Rheumatoid arthritis,Type 1 diabetes,Beta-2 microglubulin plasma levels,Hypothyroidism,Type 1 diabetes autoantibodies,Systolic blood pressure,Diastolic blood pressure,Eosinophil counts,Coronary heart disease,Red blood cell traits,Platelet counts 12q24.12 NA NA Name=2 NA rs3184504 0.78 0.78 0.78 0.852636 0.5358 0.997 0.7464 0.9811 0.9315 0.53 0.99 0.7 0.97 0.6625 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.845 N 1.66 T -0.956 T 0.000 T 0.044 -2.191 0.005 2.97 0.533 0.339 8.173 -2.191368 NA 1 0.494651 0.906037 NA 0.783 NA 8.6403824 788 14 20837701 20837701 G C exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon53:c.C7458G:p.I2486M exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000553365:exon6:c.C575G:p.S192C,ENSG00000129566:ENST00000555008:exon41:c.C5487G:p.I1829M,ENSG00000129566:ENST00000556935:exon51:c.C7134G:p.I2378M,ENSG00000129566:ENST00000262715:exon53:c.C7458G:p.I2486M Score=343;Name=lod=33 NA 14q11.2 NA NA NA NA rs938886 0.33 0.33 0.326 0.339257 0.2237 0.3065 0.3718 0.5129 0.2342 0.23 0.3 0.33 0.5 0.2626 0.5 0.48 T 0.0 B 0.002 B 0.052 N 0.000 P -1.04 N 1.26 T -0.970 T 0.000 T 0.193 -0.669 1.075 2.82 0.788 0.569 9.062 -0.668871 NA 1 0.206977 0.436904 NA 0.261 NA 8.6400564 788 7 129664312 129664312 T C exonic ZC3HC1 NA nonsynonymous SNV ZC3HC1:NM_016478:exon7:c.A811G:p.T271A exonic ENSG00000091732 NA nonsynonymous SNV ENSG00000091732:ENST00000358303:exon7:c.A811G:p.T271A,ENSG00000091732:ENST00000360708:exon7:c.A811G:p.T271A,ENSG00000091732:ENST00000311873:exon8:c.A748G:p.T250A NA NA 7q32.2 Score=959;Name=V$GATA1_05 Name=eGFP-JunB,eGFP-JunD NA NA rs1464890 0.5 0.5 0.482 0.476038 0.6054 0.6696 0.5648 0.1044 0.5828 0.6 0.7 0.51 0.12 0.5295 0.7 0.68 T 0.007 B 0.014 B 0.000 D 1.000 P 0.885 L 1.01 T -0.945 T 0.000 T 0.086 0.736 7.909 -0.152 0.344 -0.271 2.440 0.735976 NA 0.3 0.558488 0.172719 NA 0.355 NA 8.6399454 788 19 9492370 9492370 A T exonic ZNF177,ZNF559-ZNF177 NA nonsynonymous SNV ZNF177:NM_001172651:exon6:c.A1363T:p.I455F,ZNF177:NM_003451:exon9:c.A883T:p.I295F,ZNF559-ZNF177:NM_001172650:exon12:c.A883T:p.I295F exonic ENSG00000188629,ENSG00000270011 NA nonsynonymous SNV ENSG00000188629:ENST00000434737:exon5:c.A1363T:p.I455F,ENSG00000188629:ENST00000589262:exon6:c.A1363T:p.I455F,ENSG00000188629:ENST00000343499:exon9:c.A883T:p.I295F,ENSG00000270011:ENST00000541595:exon12:c.A883T:p.I295F,ENSG00000188629:ENST00000602738:exon12:c.A883T:p.I295F NA NA 19p13.2 NA Name=ZNF274,SETDB1 Name=6 NA rs2230752 0.53 0.53 0.526 0.54373 0.5606 0.4504 0.5375 0.59 0.5644 0.55 0.42 0.57 0.59 0.5514 0.6 0.08 T 0.058 B 0.018 B . . 0.972 P 0.44 N 3.18 T -0.985 T 0.000 T 0.095 1.058 9.323 -1.55 -0.434 -4.502 0.286 1.058455 NA 0.06 0.581744 0.603949 ID=COSM148502,COSM1129633;OCCURENCE=1(stomach),1(prostate) 0.652 NA 8.6395894 788 4 1656801 1656801 A C exonic FAM53A NA synonymous SNV FAM53A:NM_001013622:exon4:c.T786G:p.P262P,FAM53A:NM_001174070:exon4:c.T786G:p.P262P exonic ENSG00000174137 NA synonymous SNV ENSG00000174137:ENST00000461064:exon3:c.T786G:p.P262P,ENSG00000174137:ENST00000308132:exon4:c.T786G:p.P262P,ENSG00000174137:ENST00000472884:exon4:c.T786G:p.P262P,ENSG00000174137:ENST00000489363:exon4:c.T786G:p.P262P NA NA 4p16.3 NA NA NA NA rs62287700 0.22 0.22 0.216 0.232628 0.3698 0.0615 0.2305 0.1271 0.4121 0.37 0.05 0.28 0.14 0.3176 0.37 . . . . . . . . 0.000 P . . . . -1.077 T 0.000 T . -1.245 0.053 -9.02 -6.035 -3.903 1.607 -1.245306 NA NA 0.339851 0.15168 ID=COSM447575;OCCURENCE=1(breast) 0.109 NA 8.6394156 788 22 38028046 38028046 C T exonic GGA1 NA synonymous SNV GGA1:NM_001001560:exon13:c.C1311T:p.R437R,GGA1:NM_001172687:exon15:c.C1560T:p.R520R,GGA1:NM_013365:exon15:c.C1572T:p.R524R,GGA1:NM_001172688:exon16:c.C1353T:p.R451R exonic ENSG00000100083 NA synonymous SNV ENSG00000100083:ENST00000325180:exon13:c.C1311T:p.R437R,ENSG00000100083:ENST00000337437:exon14:c.C1473T:p.R491R,ENSG00000100083:ENST00000343632:exon15:c.C1572T:p.R524R,ENSG00000100083:ENST00000381756:exon15:c.C1623T:p.R541R,ENSG00000100083:ENST00000406772:exon16:c.C1353T:p.R451R Score=545;Name=lod=219 NA 22q13.1 NA Name=HEY1,SP1,TAF1,GABP,p300 Name=13 NA rs55740624 0.0046 0.0046 0 0.00299521 0.006 NA 0.0086 NA 0.0031 0.01 NA 0.02 NA 0.0069 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083352 NA NA 0.014535 0.002043 NA 0.007 NA 8.6392316 788 10 116008497 116008497 G A exonic VWA2 NA nonsynonymous SNV VWA2:NM_001272046:exon2:c.G25A:p.A9T exonic ENSG00000165816 NA nonsynonymous SNV ENSG00000165816:ENST00000392982:exon2:c.G25A:p.A9T,ENSG00000165816:ENST00000603594:exon2:c.G25A:p.A9T NA NA 10q25.3 NA Name=MafK_(ab50322) NA NA rs9664945 0.2 0.2 0.192 0.203275 0.2515 0.0605 0.2176 0.3396 0.1063 0.24 0.06 0.24 0.28 0.2053 0.31 0.55 T 0.001 B 0.005 B 0.575 N 1.000 P 1.445 L -0.39 T -1.040 T 0.000 T 0.09 -0.048 3.769 3.07 0.600 0.762 7.135 -0.047993 NA 0.36 0.237558 0.308897 NA 0.159 NA 8.6389754 788 11 20623023 20623023 C T exonic SLC6A5 NA synonymous SNV SLC6A5:NM_004211:exon2:c.C352T:p.L118L exonic ENSG00000165970 NA synonymous SNV ENSG00000165970:ENST00000298923:exon2:c.C352T:p.L118L,ENSG00000165970:ENST00000525748:exon2:c.C352T:p.L118L Score=383;Name=lod=48 Name=Obesity-related traits 11p15.1 NA Name=Rad21 Name=4 NA rs2241941 0.36 0.36 0.29 0.326877 0.3489 0.3641 0.3199 0.326 0.272 0.37 0.41 0.35 0.29 0.3503 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001901 NA NA 0.329263 0.315252 NA 0.181 NA 8.6382036 788 11 681078 681078 G C exonic DEAF1 NA synonymous SNV DEAF1:NM_021008:exon7:c.C882G:p.V294V exonic ENSG00000177030 NA synonymous SNV ENSG00000177030:ENST00000382409:exon7:c.C882G:p.V294V Score=489;Name=lod=129 NA 11p15.5 Score=788;Name=V$SRF_C Name=USF-1 NA NA rs35887544 0.01 0.01 NA 0.00259585 0.007 NA 0.0072 0.0008 NA 0.01 NA 0.01 0.002 0.0086 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533078 NA NA 0.014767 0.00227 NA 0.007 NA 8.6362996 788 6 72967952 72967952 G A exonic RIMS1 NA synonymous SNV RIMS1:NM_001168407:exon12:c.G1314A:p.P438P,RIMS1:NM_001168408:exon12:c.G1317A:p.P439P,RIMS1:NM_001168409:exon12:c.G1074A:p.P358P,RIMS1:NM_001168410:exon12:c.G1272A:p.P424P,RIMS1:NM_014989:exon17:c.G2895A:p.P965P exonic ENSG00000079841 NA synonymous SNV ENSG00000079841:ENST00000370420:exon5:c.G570A:p.P190P,ENSG00000079841:ENST00000401910:exon12:c.G1314A:p.P438P,ENSG00000079841:ENST00000425662:exon12:c.G1074A:p.P358P,ENSG00000079841:ENST00000453976:exon12:c.G1074A:p.P358P,ENSG00000079841:ENST00000517827:exon12:c.G1272A:p.P424P,ENSG00000079841:ENST00000523963:exon12:c.G1317A:p.P439P,ENSG00000079841:ENST00000264839:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000348717:exon17:c.G2892A:p.P964P,ENSG00000079841:ENST00000491071:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000517960:exon17:c.G2892A:p.P964P,ENSG00000079841:ENST00000518273:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000520567:exon17:c.G2892A:p.P964P,ENSG00000079841:ENST00000521978:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000522291:exon17:c.G2892A:p.P964P Score=697;Name=lod=907 NA 6q13 NA NA NA NA rs41265493 0.0046 0.0046 0.004 0.00479233 0.0139 NA 0.0014 NA 0.0092 0.01 NA 0.0028 NA 0.0079 0.011 . . . . . . . . 1.000 D . . . . -1.027 T 0.061 T . 0.898 8.65 -0.137 -0.036 0.388 1.888 0.898107 NA NA 0.009768 0.002564 NA 0.007 NA 8.6350986 789 22 30776095 30776095 C T exonic RNF215 NA nonsynonymous SNV RNF215:NM_001017981:exon7:c.G964A:p.A322T exonic ENSG00000099999 NA nonsynonymous SNV ENSG00000099999:ENST00000382363:exon7:c.G964A:p.A322T NA NA 22q12.2 NA NA NA NA rs5749088 0.16 0.16 0.145 0.131589 0.2545 0.1438 0.1556 0.0522 0.0828 0.24 0.12 0.16 0.06 0.1897 0.26 0.5 T 0.0 B 0.0 B 0.443 N 1.000 P 0 N 2.13 T -0.958 T 0.000 T 0.167 0.027 4.152 -6.25 -1.111 0.008 2.193 0.026624 NA 0.39 0.255581 0.083976 NA 0.239 NA 8.6335524 789 1 214830617 214830617 A G exonic CENPF NA nonsynonymous SNV CENPF:NM_016343:exon18:c.A8827G:p.R2943G exonic ENSG00000117724 NA nonsynonymous SNV ENSG00000117724:ENST00000366955:exon18:c.A8827G:p.R2943G NA Name=Response to antineoplastic agents 1q41 NA NA NA NA rs438034 0.62 0.62 0.591 0.618411 0.5606 0.8879 0.6383 0.354 0.7434 0.58 0.92 0.61 0.35 0.5987 0.92 0.39 T 0.0 B 0.0 B 0.879 N 1.000 P -0.755 N 4.17 T -1.060 T 0.000 T 0.027 1.777 11.9 2.52 0.331 1.447 7.878 1.777316 1.777316 0.6 0.540581 0.397186 NA 0.507 NA 8.6334524 789 5 640705 640705 A G exonic CEP72 NA nonsynonymous SNV CEP72:NM_018140:exon9:c.A1525G:p.T509A exonic ENSG00000112877 NA nonsynonymous SNV ENSG00000112877:ENST00000264935:exon9:c.A1525G:p.T509A NA NA 5p15.33 NA NA NA NA rs868649 0.28 0.28 0.256 0.26877 0.2286 0.4683 0.2507 0.2579 0.1319 0.23 0.42 0.25 0.24 0.2456 0.42 0.55 T 0.002 B 0.003 B 0.006 N 1.000 P 0.72 N 1.39 T -0.905 T 0.000 T 0.018 -0.044 3.791 -2.31 -0.271 -2.852 10.959 -0.043731 NA 0.31 0.226279 0.199274 NA 0.232 NA 8.6328544 789 6 30888161 30888161 T C exonic VARS2 NA nonsynonymous SNV VARS2:NM_001167733:exon13:c.T925C:p.W309R,VARS2:NM_001167734:exon14:c.T1435C:p.W479R,VARS2:NM_020442:exon14:c.T1345C:p.W449R exonic ENSG00000137411 NA nonsynonymous SNV ENSG00000137411:ENST00000321897:exon13:c.T1345C:p.W449R,ENSG00000137411:ENST00000542001:exon13:c.T925C:p.W309R,ENSG00000137411:ENST00000416670:exon14:c.T1345C:p.W449R,ENSG00000137411:ENST00000541562:exon14:c.T1435C:p.W479R Score=423;Name=lod=70 NA 6p21.33 NA NA NA NA rs2249464 0.58 0.58 0.52 0.616214 0.5596 0.8413 0.6297 0.3593 0.7802 0.58 0.8 0.6 0.3 0.6011 0.8 0.84 T 0.0 B 0.0 B 0.003 N 1.000 P -2.505 N 1.42 T -0.954 T 0.004 T 0.113 -1.278 0.043 4.27 0.943 1.299 5.839 -1.278043 NA 1 0.540116 0.371993 NA 0.609 NA 8.6325174 789 3 10028220 10028220 C T exonic EMC3 NA synonymous SNV EMC3:NM_018447:exon1:c.G126A:p.K42K exonic ENSG00000125037 NA synonymous SNV ENSG00000125037:ENST00000245046:exon1:c.G126A:p.K42K,ENSG00000125037:ENST00000429759:exon1:c.G126A:p.K42K,ENSG00000125037:ENST00000470827:exon2:c.G126A:p.K42K Score=694;Name=lod=882 NA 3p25.3 NA Name=Pol2 Name=148 NA rs146540747 0.01 0.01 0.005 0.00339457 0.0129 NA 0.0058 NA NA 0.02 NA 0.01 NA 0.0087 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.759063 1.759063 NA 0.013023 0.002724 NA NA NA 8.6320436 789 10 72195439 72195439 T C exonic NODAL NA nonsynonymous SNV NODAL:NM_018055:exon2:c.A494G:p.H165R exonic ENSG00000156574,ENSG00000197604 NA nonsynonymous SNV ENSG00000197604:ENST00000420338:exon1:c.T386C:p.V129A,ENSG00000156574:ENST00000287139:exon2:c.A494G:p.H165R,ENSG00000156574:ENST00000414871:exon2:c.A329G:p.H110R NA NA 10q22.1 Score=767;Name=V$ROAZ_01 NA NA NA rs1904589 0.66 0.66 0.644 0.665735 0.5308 0.9563 0.6816 0.5113 0.7025 0.54 0.95 0.67 0.48 0.6171 0.95 0.54 T 0.0 B 0.0 B 0.728 N 1.000 P 1.15 L -0.07 T -1.036 T 0.000 T 0.017 -0.346 2.365 -2.83 -0.447 0.049 4.011 -0.345616 NA 0.28 0.555233 0.506128 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081930.1;CLNDSDB=.;CLNDSDBID=. 8.6302004 789 9 125330678 125330678 T G exonic OR1L8 NA nonsynonymous SNV OR1L8:NM_001004454:exon1:c.A79C:p.T27P exonic ENSG00000171496 NA nonsynonymous SNV ENSG00000171496:ENST00000304865:exon1:c.A79C:p.T27P Score=278;Name=lod=18 NA 9q33.2 Score=835;Name=V$FAC1_01 NA NA NA rs10985704 0.68 0.68 0.688 0.665136 0.5477 0.9792 0.6225 0.5991 0.5818 0.53 0.99 0.63 0.6 0.5965 0.99 0.29 T 0.0 B 0.0 B 0.065 N 1.000 P -1.405 N 7.42 T -0.877 T 0.000 T 0.064 0.988 9.033 3.48 0.618 -0.663 12.513 0.987675 NA 0.22 0.560349 0.588289 NA 0.514 NA 8.6287844 789 1 183085755 183085755 A G exonic LAMC1 NA nonsynonymous SNV LAMC1:NM_002293:exon7:c.A1372G:p.I458V exonic ENSG00000135862 NA nonsynonymous SNV ENSG00000135862:ENST00000258341:exon7:c.A1372G:p.I458V NA NA 1q25.3 NA NA Name=15 NA rs20563 0.53 0.53 0.514 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.5725 0.58 1 T 0.0 B 0.0 B 0.010 N 1.000 P -1.33 N 0.15 T -1.041 T 0.000 T 0.033 -0.567 1.444 -4.2 -1.286 -0.034 6.730 -0.566876 NA 1 0.569535 0.374489 NA 0.464 NA 8.6276984 789 6 2679676 2679676 G A intronic MYLK4 NA NA NA exonic ENSG00000145949 NA nonsynonymous SNV ENSG00000145949:ENST00000268446:exon8:c.C725T:p.T242M NA NA 6p25.2 NA NA NA NA rs12523992 0.23 0.23 0.22 0.226238 0.174 0.4236 0.255 0.0643 0.2751 0.18 0.44 0.19 0.09 0.2065 0.44 . . . . . . . . 1.000 P . . 1.11 T -0.998 T 0.017 T 0.075 0.793 8.177 -3.9 -1.002 -1.086 0.177 0.792989 NA 0 0.158953 0.084884 NA 0.21 NA 8.6272137 789 1 47607281 47607281 C T exonic CYP4A22 NA nonsynonymous SNV CYP4A22:NM_001010969:exon3:c.C376T:p.R126W exonic ENSG00000162365 NA nonsynonymous SNV ENSG00000162365:ENST00000294337:exon3:c.C376T:p.R126W,ENSG00000162365:ENST00000371890:exon3:c.C376T:p.R126W,ENSG00000162365:ENST00000371891:exon3:c.C376T:p.R126W Score=387;Name=lod=50 NA 1p33 NA NA NA NA rs12564525 0.31 0.31 0.318 0.371206 0.2058 0.6141 0.2867 0.2254 0.5481 0.19 0.6 0.25 0.21 0.2919 0.6 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.465 N -0.27 T -0.903 T 0.000 T 0.154 -0.783 0.721 1.66 0.117 2.836 6.861 -0.783423 NA 1 0.209535 0.249433 NA 0.239 NA 8.6260984 789 12 101560328 101560328 C A exonic SLC5A8 NA nonsynonymous SNV SLC5A8:NM_145913:exon12:c.G1470T:p.M490I exonic ENSG00000256870 NA nonsynonymous SNV ENSG00000256870:ENST00000536262:exon12:c.G1470T:p.M490I NA NA 12q23.1 NA NA NA NA rs164365 0.27 0.27 0.282 0.260383 0.2485 0.5437 0.1268 0.149 0.226 0.23 0.53 0.15 0.13 0.2345 0.53 0.49 T 0.002 B 0.002 B 0.681 N 1.000 P 0.805 L 0.02 T -0.897 T 0.000 T 0.079 -0.865 0.514 2.95 2.530 0.204 3.719 -0.86525 NA 0.55 0.224651 0.135497 NA 0.203 NA 8.6256824 790 2 242149010 242149010 C T exonic ANO7 NA nonsynonymous SNV ANO7:NM_001001891:exon13:c.C1481T:p.A494V exonic ENSG00000146205 NA nonsynonymous SNV ENSG00000146205:ENST00000274979:exon13:c.C1481T:p.A494V,ENSG00000146205:ENST00000402430:exon13:c.C1478T:p.A493V NA NA 2q37.3 NA Name=CTCF NA NA rs57677160 0.14 0.14 0.143 0.123003 0.2565 0.0159 0.1571 0.0998 0.1033 0.25 0.01 0.16 0.11 0.2022 0.26 0.74 T 0.0 B 0.002 B 0.000 N 1.000 P -0.235 N -0.02 T -1.081 T 0.000 T 0.022 -0.525 1.607 -0.242 -0.078 2.903 7.185 -0.525135 NA 0.6 0.256163 0.126192 NA 0.123 NA 8.6184704 790 21 28210030 28210030 A G exonic ADAMTS1 NA synonymous SNV ADAMTS1:NM_006988:exon9:c.T2772C:p.C924C exonic ENSG00000154734 NA synonymous SNV ENSG00000154734:ENST00000284984:exon9:c.T2772C:p.C924C Score=563;Name=lod=259 NA 21q21.3 NA Name=CTCF Name=20 NA rs3183693 0.01 0.01 0.005 0.00559105 0.0189 NA 0.013 NA NA 0.01 NA 0.02 NA 0.0109 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123981 NA NA 0.019419 0.00227 NA NA NA 8.6174476 790 3 118945796 118945796 G C exonic B4GALT4 NA nonsynonymous SNV B4GALT4:NM_003778:exon4:c.C346G:p.Q116E,B4GALT4:NM_212543:exon5:c.C346G:p.Q116E exonic ENSG00000121578 NA nonsynonymous SNV ENSG00000121578:ENST00000479150:exon3:c.C346G:p.Q116E,ENSG00000121578:ENST00000480814:exon3:c.C346G:p.Q116E,ENSG00000121578:ENST00000393765:exon4:c.C346G:p.Q116E,ENSG00000121578:ENST00000467604:exon4:c.C346G:p.Q116E,ENSG00000121578:ENST00000483209:exon4:c.C346G:p.Q116E,ENSG00000121578:ENST00000359213:exon5:c.C346G:p.Q116E,ENSG00000121578:ENST00000475803:exon5:c.C346G:p.Q116E NA NA 3q13.32 NA NA NA NA rs3764779 0.28 0.28 0.287 0.296925 0.1978 0.3333 0.353 0.3064 0.3088 0.2 0.34 0.33 0.3 0.2715 0.34 1 T 0.0 B 0.0 B 0.000 N 0.719 P -1.77 N 2.05 T -0.988 T 0.000 T 0.194 -1.884 0.008 5.1 1.578 -0.256 10.875 -1.883719 NA 1 0.24686 0.319791 ID=COSM149449;OCCURENCE=1(stomach) 0.29 NA 8.6171734 790 3 195453434 195453434 G A exonic MUC20 NA nonsynonymous SNV MUC20:NM_001098516:exon2:c.G1342A:p.V448M,MUC20:NM_152673:exon3:c.G1447A:p.V483M exonic ENSG00000176945 NA nonsynonymous SNV ENSG00000176945:ENST00000445522:exon1:c.G1855A:p.V619M,ENSG00000176945:ENST00000436408:exon2:c.G1960A:p.V654M,ENSG00000176945:ENST00000447234:exon2:c.G1960A:p.V654M,ENSG00000176945:ENST00000320736:exon3:c.G1447A:p.V483M NA NA 3q29 NA NA NA NA rs113099255 0.07 0.07 0.051 NA NA NA NA NA NA 0.13 0.0017 0.08 0.06 0.0932 0.13 0.09 T 0.985 D 0.71 P 0.097 N 1.000 N 0.975 L 2.93 T -1.099 T 0.001 T 0.414 2.187 13.27 -1.74 -0.470 -0.217 0.392 2.187172 2.187172 0.11 0.123244 0.035524 ID=COSM1193888,COSM1193887;OCCURENCE=1(lung) NA NA 8.6168894 790 17 39240790 39240790 G A exonic KRTAP4-7 NA nonsynonymous SNV KRTAP4-7:NM_033061:exon1:c.G332A:p.R111H exonic ENSG00000240871 NA nonsynonymous SNV ENSG00000240871:ENST00000391417:exon1:c.G332A:p.R111H NA NA 17q21.2 NA NA NA NA rs11650261 0.07 0.07 0.051 0.0684904 0.1153 0.0685 0.1196 0.0272 0.0399 0.09 0.04 0.09 0.04 0.1013 0.09 0.1 T 0.988 D 0.515 P 0.000 U 1.000 N . . 6.22 T -0.935 T 0.000 T 0.21 0.46 6.498 -0.91 0.230 0.218 3.436 0.460116 NA 0.11 NA NA ID=COSM436553,COSM436552;OCCURENCE=1(breast) NA NA 8.6167334 791 4 169083694 169083694 A C exonic ANXA10 NA nonsynonymous SNV ANXA10:NM_007193:exon4:c.A211C:p.M71L exonic ENSG00000109511 NA nonsynonymous SNV ENSG00000109511:ENST00000359299:exon4:c.A211C:p.M71L Score=363;Name=lod=40 NA 4q32.3 NA NA NA NA rs6836994 0.51 0.51 0.529 0.533147 0.5944 0.2431 0.4697 0.7436 0.5297 0.58 0.24 0.53 0.7 0.5411 0.71 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.7 N 3.88 T -1.018 T 0.000 T 0.069 -1.512 0.016 2.56 0.058 1.619 6.478 -1.511852 NA 1 0.583372 0.714707 ID=COSM149755;OCCURENCE=1(stomach) 0.42 NA 8.6144614 791 12 56600528 56600528 C T exonic RNF41 NA synonymous SNV RNF41:NM_001242826:exon7:c.G657A:p.S219S,RNF41:NM_005785:exon7:c.G657A:p.S219S,RNF41:NM_194359:exon7:c.G657A:p.S219S,RNF41:NM_194358:exon8:c.G444A:p.S148S exonic ENSG00000181852 NA synonymous SNV ENSG00000181852:ENST00000345093:exon7:c.G657A:p.S219S,ENSG00000181852:ENST00000552656:exon7:c.G657A:p.S219S,ENSG00000181852:ENST00000394013:exon8:c.G444A:p.S148S NA NA 12q13.3 Score=726;Name=V$PAX4_04 Name=ZNF263,CTCF_(SC-5916),FOXA1_(C-20),CTCF_(C-20),SMC3_(ab9263),Znf143_(16618-1-AP),CTCF,FOXA1_(SC-101058),Rad21 Name=137 NA rs703822 0.01 0.01 0.008 0.00658946 0.0209 0.001 0.013 NA 0.002 0.02 0.0017 0.02 0.002 0.014 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735049 NA NA 0.018721 0.004539 NA NA NA 8.6130456 791 5 170239112 170239112 C A exonic GABRP NA nonsynonymous SNV GABRP:NM_014211:exon10:c.C1173A:p.F391L exonic ENSG00000094755 NA nonsynonymous SNV ENSG00000094755:ENST00000265294:exon10:c.C1173A:p.F391L,ENSG00000094755:ENST00000518525:exon11:c.C1173A:p.F391L Score=486;Name=lod=126 NA 5q35.1 NA NA NA NA rs1063310 0.26 0.26 0.257 0.223842 0.2565 0.2589 0.1398 0.2821 0.135 0.26 0.29 0.15 0.3 0.222 0.3 0.36 T 0.042 B 0.006 B 0.019 N 0.000 P 0.345 N -1.33 T -1.077 T 0.000 T 0.171 0.744 7.948 2.88 0.295 0.331 6.024 0.744234 NA 0.49 0.24407 0.303677 NA 0.268 NA 8.6107634 791 11 119063908 119063908 C T exonic CCDC153 NA nonsynonymous SNV CCDC153:NM_001145018:exon5:c.G302A:p.R101H exonic ENSG00000248712 NA nonsynonymous SNV ENSG00000248712:ENST00000503566:exon4:c.G302A:p.R101H,ENSG00000248712:ENST00000415318:exon5:c.G302A:p.R101H NA NA 11q23.3 NA NA Name=2 NA rs2301574 0.29 0.29 0.302 0.245008 0.2455 0.3542 0.2089 0.2595 0.138 0.25 0.37 0.23 0.31 0.2323 0.37 0.37 T 0.025 B 0.006 B 0.158 N 1.000 P 0.69 N 1.58 T -0.903 T 0.000 T 0.041 -0.264 2.731 -0.122 0.088 -0.974 7.593 -0.264408 NA 0.08 0.248079 0.260573 ID=COSM147337;OCCURENCE=1(stomach) 0.42 NA 8.6074544 791 6 25813150 25813150 G A exonic SLC17A1 NA nonsynonymous SNV SLC17A1:NM_005074:exon8:c.C806T:p.T269I exonic ENSG00000124568 NA nonsynonymous SNV ENSG00000124568:ENST00000244527:exon8:c.C806T:p.T269I,ENSG00000124568:ENST00000476801:exon8:c.C806T:p.T269I NA Name=Urate levels 6p22.2 NA NA NA NA rs1165196 0.74 0.74 0.728 0.71905 0.5646 0.8165 0.7003 0.9213 0.5174 0.57 0.84 0.69 0.92 0.6161 0.92 0.53 T 0.0 B 0.002 B 0.055 N 1.000 P -0.99 N 0.51 T -1.024 T 0.021 T 0.036 0.071 4.386 3.67 0.777 1.880 5.944 0.071267 NA 0.43 0.546279 0.861325 NA 0.623 NA 8.6063544 792 9 90501448 90501448 C A exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C2046A:p.D682E exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.C2046A:p.D682E NA NA 9q22.1 NA NA NA NA rs4076795 0.75 0.75 0.762 0.760783 0.5666 0.877 0.719 0.9493 0.6155 0.56 0.87 0.7 0.94 0.6224 0.94 1 T 0.0 B 0.0 B 0.002 N 1.000 P -0.345 N 3.37 T -0.995 T 0.000 T 0.001 -1.903 0.008 -4.86 -2.299 -2.165 5.925 -1.902883 NA 1 0.53966 0.879709 NA 0.71 NA 8.6046734 792 14 51446216 51446216 T G exonic TRIM9 NA nonsynonymous SNV TRIM9:NM_015163:exon9:c.A1959C:p.L653F exonic ENSG00000100505 NA nonsynonymous SNV ENSG00000100505:ENST00000298355:exon9:c.A1959C:p.L653F,ENSG00000100505:ENST00000338969:exon12:c.A2202C:p.L734F Score=488;Name=lod=128 NA 14q22.1 NA NA NA NA rs2275462 0.59 0.59 0.525 0.589856 0.5537 0.6925 0.7262 0.4372 0.6309 0.56 0.71 0.67 0.42 0.6074 0.71 0.66 T 0.058 B 0.105 B 0.000 N 0.000 P 1.265 L -0.44 T -0.904 T 0.000 T 0.065 2.877 15.58 3.54 1.035 0.502 1.085 2.876985 2.876985 0.08 0.567791 0.441217 NA 0.594 NA 8.6044424 792 1 177902725 177902725 C T exonic SEC16B NA nonsynonymous SNV SEC16B:NM_033127:exon21:c.G2618A:p.S873N exonic ENSG00000120341 NA nonsynonymous SNV ENSG00000120341:ENST00000308284:exon21:c.G2618A:p.S873N NA NA 1q25.2 NA NA NA NA rs3813649 0.21 0.21 0.202 0.219249 0.2604 0.1052 0.2594 0.2352 0.2444 0.25 0.12 0.25 0.2 0.2342 0.26 0.53 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 2.54 T -1.013 T 0.000 T 0.002 -0.067 3.674 -10.2 -4.241 -1.654 2.855 -0.06693 NA 0.36 0.236077 0.260032 NA 0.297 NA 8.6026564 792 17 79478007 79478007 G A exonic ACTG1 NA synonymous SNV ACTG1:NM_001199954:exon5:c.C930T:p.A310A,ACTG1:NM_001614:exon5:c.C930T:p.A310A exonic ENSG00000184009 NA synonymous SNV ENSG00000184009:ENST00000575842:exon4:c.C930T:p.A310A,ENSG00000184009:ENST00000331925:exon5:c.C930T:p.A310A,ENSG00000184009:ENST00000573283:exon5:c.C930T:p.A310A,ENSG00000184009:ENST00000575087:exon5:c.C930T:p.A310A,ENSG00000184009:ENST00000576544:exon5:c.C930T:p.A310A Score=526;Name=lod=183 NA 17q25.3 NA Name=ZBTB33,NRSF,Pol2,HEY1,Pol2(b),Sin3Ak-20,Pol2-4H8,CTCF_(SC-5916) Name=121 NA rs1135989 0.22 0.22 0.196 0.185304 0.3966 0.005 0.2522 0.1505 0.1534 0.39 0.0035 0.31 0.13 0.2882 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.845974 NA NA 0.379419 0.193373 NA 0.167 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037127.3;CLNDSDB=.;CLNDSDBID=. 8.6024476 792 3 158537443 158537443 A G exonic MFSD1 NA nonsynonymous SNV MFSD1:NM_001167903:exon7:c.A688G:p.I230V,MFSD1:NM_022736:exon8:c.A805G:p.I269V exonic ENSG00000118855 NA nonsynonymous SNV ENSG00000118855:ENST00000477743:exon3:c.A160G:p.I54V,ENSG00000118855:ENST00000392813:exon7:c.A688G:p.I230V,ENSG00000118855:ENST00000264266:exon8:c.A658G:p.I220V,ENSG00000118855:ENST00000415822:exon8:c.A805G:p.I269V NA NA 3q25.32 Score=858;Name=V$ARNT_01 NA Name=2 NA rs3765083 0.56 0.56 0.584 0.559305 0.6083 0.372 0.5331 0.7247 0.4969 0.61 0.36 0.59 0.72 0.5606 0.72 0.91 T 0.001 B 0.004 B 0.001 N 0.988 P 0.805 L 0.36 T -0.955 T 0.000 T 0.163 0.164 4.884 -2.1 -0.261 -0.188 6.853 0.164326 NA 0.39 0.56314 0.667045 NA 0.529 NA 8.6012934 792 10 46999604 46999604 A G exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.A724G:p.R242G exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.A724G:p.R242G,ENSG00000204175:ENST00000374317:exon3:c.A724G:p.R242G NA NA 10q11.22 NA NA NA NA rs3127683 NA NA NA 0.807308 0.8469 0.9137 0.8516 0.6513 0.8364 NA NA NA NA 0.8852 0.88 0.82 T 0.0 B 0.0 B 0.012 N 1.000 N -1.7 N 4.09 T -0.937 T 0.003 T 0.086 -1.936 0.007 5.12 1.321 2.529 10.186 -1.935806 NA 0.59 NA NA NA 0.87 NA 8.6012334 792 1 91781413 91781413 T G exonic HFM1 NA synonymous SNV HFM1:NM_001017975:exon28:c.A3099C:p.I1033I exonic ENSG00000162669 NA synonymous SNV ENSG00000162669:ENST00000370424:exon24:c.A2136C:p.I712I,ENSG00000162669:ENST00000294696:exon28:c.A795C:p.I265I,ENSG00000162669:ENST00000370425:exon28:c.A3099C:p.I1033I Score=623;Name=lod=455 NA 1p22.2 Score=796;Name=V$CDPCR3_01 NA NA NA rs281992 0.75 0.75 0.726 0.762979 0.6928 0.8244 0.7233 0.7489 0.819 0.68 0.86 0.68 0.77 0.7059 0.86 . . . . . . . . 0.000 P . . . . . . . . . 0.733 7.896 4.09 0.800 1.237 9.494 0.733391 NA NA 0.666744 0.729791 NA 0.688 NA 8.6012226 792 11 4790951 4790951 A G exonic OR51F1 NA nonsynonymous SNV OR51F1:NM_001004752:exon1:c.T197C:p.F66S exonic ENSG00000188069 NA nonsynonymous SNV ENSG00000188069:ENST00000343430:exon1:c.T197C:p.F66S,ENSG00000188069:ENST00000380383:exon1:c.T218C:p.F73S NA NA 11p15.4 NA NA NA NA rs11033801 0.23 0.23 0.224 0.215655 0.2704 NA 0.2017 0.4569 0.0654 0.25 NA 0.23 0.46 0.2104 0.46 1 T 0.0 B 0.0 B 0.004 N 1.000 P -1.895 N 7.37 T -1.081 T 0.000 T 0.058 -1.368 0.026 4.81 1.271 0.483 7.393 -1.367725 NA 1 0.251745 0.446615 NA 0.29 NA 8.6007884 792 2 73679280 73679280 A G exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon8:c.A5623G:p.I1875V exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000423048:exon1:c.A457G:p.I153V,ENSG00000116127:ENST00000409009:exon7:c.A5497G:p.I1833V,ENSG00000116127:ENST00000264448:exon8:c.A5623G:p.I1875V,ENSG00000116127:ENST00000377715:exon8:c.A5623G:p.I1875V NA NA 2p13.1 NA NA NA NA rs6546838 0.33 0.33 0.36 0.358826 0.2276 0.0089 0.3919 0.8585 0.1554 0.23 0.01 0.35 0.85 0.2676 0.85 1 T 0.0 B 0.002 B 0.078 N 1.000 P -1.04 N 3.53 T -0.988 T 0.000 T 0.08 -1.607 0.013 -3.33 -0.997 -0.185 5.239 -1.607239 NA 1 0.238509 0.726395 NA 0.406 NA 8.5996244 792 4 1730254 1730254 A G exonic TACC3 NA synonymous SNV TACC3:NM_006342:exon4:c.A1125G:p.Q375Q exonic ENSG00000013810 NA synonymous SNV ENSG00000013810:ENST00000313288:exon4:c.A1125G:p.Q375Q NA NA 4p16.3 NA Name=HA-E2F1 NA NA rs798758 0.02 0.02 0.013 0.0353435 0.0199 0.0109 0.0159 0.0461 0.0757 0.02 0.01 0.02 0.04 0.028 0.047 . . . . . . . . 1.000 N . . . . -1.017 T 0.014 T . 0.106 4.573 -4.7 -0.900 -0.328 8.484 0.106386 NA NA 0.019302 0.047208 NA 0.007 NA 8.5994646 792 6 24418348 24418348 G A exonic MRS2 NA synonymous SNV MRS2:NM_020662:exon8:c.G873A:p.E291E exonic ENSG00000124532 NA synonymous SNV ENSG00000124532:ENST00000535061:exon6:c.G723A:p.E241E,ENSG00000124532:ENST00000378353:exon8:c.G873A:p.E291E,ENSG00000124532:ENST00000378386:exon8:c.G873A:p.E291E,ENSG00000124532:ENST00000443868:exon9:c.G882A:p.E294E Score=563;Name=lod=258 NA 6p22.3 NA NA NA NA rs2793422 0.23 0.23 0.229 0.228235 0.3618 0.2272 0.2464 0.0923 0.2628 0.35 0.19 0.27 0.07 0.3185 0.39 . . . . . . . . 0.000 P . . . . -0.991 T 0.108 T . 1.238 10.03 4.3 0.910 4.113 10.671 1.23767 1.23767 NA 0.387674 0.134362 NA 0.275 NA 8.5986926 792 11 4790948 4790948 C A exonic OR51F1 NA nonsynonymous SNV OR51F1:NM_001004752:exon1:c.G200T:p.R67M exonic ENSG00000188069 NA nonsynonymous SNV ENSG00000188069:ENST00000343430:exon1:c.G200T:p.R67M,ENSG00000188069:ENST00000380383:exon1:c.G221T:p.R74M NA NA 11p15.4 NA NA NA NA rs11033800 0.23 0.23 0.232 0.215655 0.2704 NA 0.2017 0.4569 0.0654 0.25 NA 0.23 0.46 0.2113 0.46 1 T 0.0 B 0.0 B 0.002 N 1.000 P -3.89 N 4.07 T -0.952 T 0.000 T 0.067 -1.904 0.008 3.66 0.324 2.960 6.514 -1.904301 NA 1 0.25349 0.446842 NA 0.29 NA 8.5981434 792 7 100377082 100377082 T C exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon35:c.T6329C:p.L2110P,ENSG00000146839:ENST00000542585:exon35:c.T6329C:p.L2110P,ENSG00000146839:ENST00000546213:exon35:c.T1862C:p.L621P,ENSG00000146839:ENST00000546292:exon35:c.T6329C:p.L2110P NA NA 7q22.1 NA NA NA NA rs531503 0.37 0.37 0.35 0.345847 0.334 0.3234 0.2738 0.4281 0.3211 0.35 0.37 0.34 0.44 0.3744 0.44 0.37 T 0.0 B 0.0 B 0.615 N 1.000 P . . 2.46 T -0.915 T 0.000 T 0.208 -0.537 1.559 -2.41 -2.744 -3.786 3.304 -0.53712 NA NA 0.36082 0.390214 NA 0.297 NA 8.5974467 792 2 73679990 73679990 T A exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon8:c.T6333A:p.S2111R exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000423048:exon1:c.T1167A:p.S389R,ENSG00000116127:ENST00000409009:exon7:c.T6207A:p.S2069R,ENSG00000116127:ENST00000264448:exon8:c.T6333A:p.S2111R,ENSG00000116127:ENST00000377715:exon8:c.T6333A:p.S2111R NA NA 2p13.1 NA NA NA NA rs6724782 0.34 0.34 0.375 0.363818 0.2276 0.0089 0.3919 0.8775 0.1554 0.23 0.01 0.35 0.86 0.2699 0.86 1 T 0.0 B 0.0 B 0.921 N 1.000 P -1.04 N 3.53 T -0.962 T 0.000 T 0.094 -2.434 0.003 -5.06 -1.484 -0.204 0.559 -2.43446 NA 1 0.239003 0.739903 NA 0.435 NA 8.5968304 792 3 121414061 121414061 C T exonic GOLGB1 NA nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.G5069A:p.G1690D,GOLGB1:NM_001256486:exon13:c.G5309A:p.G1770D,GOLGB1:NM_001256487:exon13:c.G5192A:p.G1731D,GOLGB1:NM_004487:exon13:c.G5294A:p.G1765D exonic ENSG00000173230 NA nonsynonymous SNV ENSG00000173230:ENST00000340645:exon13:c.G5294A:p.G1765D,ENSG00000173230:ENST00000393667:exon13:c.G5309A:p.G1770D NA NA 3q13.33 NA NA NA NA rs1127412 0.28 0.28 0.263 0.2502 0.2515 0.4841 0.1614 0.1649 0.1861 0.25 0.47 0.2 0.16 0.2393 0.47 0.55 T 0.001 B 0.001 B 0.021 N 1.000 P 0.41 N 2.62 T -0.934 T 0.000 T 0.093 -0.473 1.818 -9.92 -1.808 -0.790 1.586 -0.473049 NA 0.26 0.245814 0.16069 NA 0.188 NA 8.5967194 792 3 9991101 9991101 C G exonic PRRT3 NA nonsynonymous SNV PRRT3:NM_207351:exon2:c.G699C:p.L233F exonic ENSG00000163704 NA nonsynonymous SNV ENSG00000163704:ENST00000295984:exon2:c.G699C:p.L233F,ENSG00000163704:ENST00000411976:exon2:c.G699C:p.L233F,ENSG00000163704:ENST00000412055:exon2:c.G699C:p.L233F Score=329;Name=lod=29 NA 3p25.3 NA NA NA NA rs55847233 0.37 0.37 0.388 0.382388 0.2147 0.1558 0.3271 0.8154 0.2423 0.22 0.21 0.34 0.81 0.2778 0.81 . . 0.0 B 0.001 B 0.118 N 1.000 P -0.425 N 2.56 T -1.061 T 0.000 T 0.035 -2.526 0.003 1.9 0.191 0.979 6.945 -2.526495 NA 1 0.244572 0.686324 NA 0.565 NA 8.5962614 792 19 47700611 47700611 C T exonic SAE1 NA synonymous SNV SAE1:NM_005500:exon7:c.C855T:p.D285D exonic ENSG00000142230 NA synonymous SNV ENSG00000142230:ENST00000598840:exon5:c.C612T:p.D204D,ENSG00000142230:ENST00000540850:exon6:c.C333T:p.D111D,ENSG00000142230:ENST00000270225:exon7:c.C855T:p.D285D Score=493;Name=lod=134 NA 19q13.32 Score=881;Name=V$RORA2_01 NA Name=4 NA rs11083864 0.01 0.01 0.012 0.00978435 0.0288 NA 0.0101 0.0008 0.0123 0.03 NA 0.01 0.002 0.0185 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233189 1.233189 NA 0.023953 0.002724 NA NA NA 8.5954136 792 1 42050366 42050366 C T exonic HIVEP3 NA nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.G103A:p.V35I,HIVEP3:NM_024503:exon4:c.G103A:p.V35I exonic ENSG00000127124 NA nonsynonymous SNV ENSG00000127124:ENST00000247584:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000372584:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000429157:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000372583:exon4:c.G103A:p.V35I NA NA 1p34.2 NA NA NA NA rs2146315 0.29 0.29 0.271 0.309305 0.2326 0.4345 0.1945 0.3215 0.3241 0.23 0.41 0.22 0.3 0.2722 0.41 0.42 T 0.0 B 0.001 B 0.318 N 1.000 P 0 N 3.42 T -0.909 T 0.000 T 0.082 -0.914 0.41 -2.92 -0.735 -0.973 10.926 -0.913671 NA 0.23 0.233256 0.297322 ID=COSM1342685;OCCURENCE=1(large_intestine) 0.246 NA 8.5952774 793 5 132535046 132535046 G A exonic FSTL4 NA nonsynonymous SNV FSTL4:NM_015082:exon16:c.C2270T:p.T757M exonic ENSG00000053108 NA nonsynonymous SNV ENSG00000053108:ENST00000265342:exon16:c.C2270T:p.T757M NA NA 5q31.1 NA NA NA NA rs3749817 0.26 0.26 0.222 0.265375 0.2316 0.3948 0.4049 0.062 0.3425 0.23 0.43 0.35 0.06 0.2913 0.43 0.12 T 0.286 B 0.022 B 0.893 N 1.000 P 0.695 N 1.99 T -0.930 T 0.000 T 0.025 -0.365 2.282 -6.31 -1.355 0.316 2.647 -0.364594 NA 0.14 0.216628 0.087154 NA 0.275 NA 8.5938054 793 16 81010073 81010073 C T exonic CMC2 NA nonsynonymous SNV CMC2:NM_020188:exon4:c.G157A:p.V53I exonic ENSG00000103121 NA nonsynonymous SNV ENSG00000103121:ENST00000565108:exon3:c.G85A:p.V29I,ENSG00000103121:ENST00000219400:exon4:c.G157A:p.V53I,ENSG00000103121:ENST00000564174:exon4:c.G85A:p.V29I,ENSG00000103121:ENST00000564249:exon4:c.G157A:p.V53I,ENSG00000103121:ENST00000565650:exon5:c.G157A:p.V53I,ENSG00000103121:ENST00000565914:exon5:c.G157A:p.V53I NA NA 16q23.2 NA NA NA NA rs8388 0.4 0.4 0.442 0.398163 0.2296 0.4454 0.366 0.6694 0.1789 0.23 0.44 0.36 0.66 0.2952 0.66 0.3 T 0.0 B 0.001 B 0.225 N 1.000 P . . 0.98 T -0.960 T 0.000 T 0.117 -0.381 2.211 -4.67 -1.468 -0.722 4.489 -0.380614 NA 0.23 0.214767 0.575125 NA 0.377 NA 8.5937664 793 20 13830137 13830137 A C exonic SEL1L2 NA nonsynonymous SNV SEL1L2:NM_001271539:exon18:c.T1722G:p.H574Q exonic ENSG00000101251 NA nonsynonymous SNV ENSG00000101251:ENST00000378072:exon18:c.T1722G:p.H574Q,ENSG00000101251:ENST00000284951:exon20:c.T2061G:p.H687Q NA NA 20p12.1 NA NA NA NA rs2073290 0.16 0.16 0.133 0.142372 0.2594 0.0903 0.2363 0.0121 0.1851 0.27 0.09 0.23 0.02 0.2247 0.27 1 T 0.0 B 0.0 B 0.543 N 1.000 P -0.285 N 2.21 T -1.042 T 0.000 T 0.046 0.662 7.546 -10.9 -1.893 -1.060 4.104 0.661779 NA 0 0.255588 0.04848 NA 0.188 NA 8.5936454 793 10 12131081 12131081 T G exonic DHTKD1 NA nonsynonymous SNV DHTKD1:NM_018706:exon5:c.T814G:p.Y272D exonic ENSG00000181192 NA nonsynonymous SNV ENSG00000181192:ENST00000437298:exon4:c.T619G:p.Y207D,ENSG00000181192:ENST00000263035:exon5:c.T814G:p.Y272D Score=542;Name=lod=212 NA 10p14 NA NA NA NA rs3740015 0.47 0.47 0.467 0.484425 0.5915 0.4812 0.4669 0.2073 0.7648 0.59 0.48 0.5 0.24 0.5596 0.59 0.42 T 0.0 B 0.0 B 0.000 N 0.180 P -1.74 N 2.35 T -0.909 T 0.000 T 0.442 -0.388 2.179 4.19 0.554 6.649 12.156 -0.388009 NA 1 0.588837 0.267817 NA 0.37 NA 8.5933964 793 10 129913960 129913960 A T exonic MKI67 NA nonsynonymous SNV MKI67:NM_002417:exon7:c.T712A:p.W238R exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368654:exon7:c.T712A:p.W238R Score=336;Name=lod=31 NA 10q26.2 NA Name=CEBPB NA NA rs7095325 0.24 0.24 0.231 0.253395 0.2455 0.247 0.2522 0.3026 0.2025 0.25 0.25 0.21 0.26 0.246 0.31 . . 0.0 B 0.0 B 0.383 N 0.229 P -0.805 N 2.1 T -0.931 T 0.000 T 0.008 -1.096 0.147 -0.736 -0.415 0.172 1.319 -1.095509 NA 1 0.248837 0.314344 NA 0.232 NA 8.5929964 793 5 16481185 16481185 A G exonic FAM134B NA synonymous SNV FAM134B:NM_019000:exon3:c.T180C:p.C60C,FAM134B:NM_001034850:exon5:c.T603C:p.C201C exonic ENSG00000154153 NA synonymous SNV ENSG00000154153:ENST00000399793:exon3:c.T180C:p.C60C,ENSG00000154153:ENST00000306320:exon5:c.T603C:p.C201C Score=568;Name=lod=271 NA 5p15.1 Score=831;Name=V$AHRARNT_01 NA Name=15 NA rs16868675 0.06 0.06 0.074 0.0828674 0.0209 0.001 0.0331 0.2769 0.0041 0.02 0.0017 0.03 0.21 0.032 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.312794 1.312794 NA 0.021269 0.216693 NA 0.051 NA 8.5924976 793 12 29596365 29596365 T C exonic OVCH1 NA nonsynonymous SNV OVCH1:NM_183378:exon25:c.A3086G:p.K1029R exonic ENSG00000187950 NA nonsynonymous SNV ENSG00000187950:ENST00000537054:exon2:c.A161G:p.K54R,ENSG00000187950:ENST00000318184:exon25:c.A3086G:p.K1029R NA NA 12p11.22 NA NA NA NA rs78265994 0.04 0.04 0.03 0.0413339 0.0915 0.001 0.0591 0.0151 0.0542 0.09 NA 0.04 0.02 0.0689 0.09 0.22 T 0.675 P 0.039 B . . 1.000 P 0 N 2.12 T -1.053 T 0.001 T 0.196 -0.336 2.41 1.22 0.348 1.476 5.372 -0.335546 NA 0.15 0.080606 0.024563 NA 0.022 NA 8.5923274 793 13 111111235 111111235 G A exonic COL4A2 NA nonsynonymous SNV COL4A2:NM_001846:exon22:c.G1550A:p.R517K exonic ENSG00000134871 NA nonsynonymous SNV ENSG00000134871:ENST00000360467:exon22:c.G1550A:p.R517K NA NA 13q34 NA NA NA NA rs7990383 0.52 0.52 0.531 0.509185 0.5964 0.2232 0.5 0.7171 0.4397 0.59 0.2 0.56 0.72 0.539 0.72 1 T 0.0 B 0.001 B 0.444 N 1.000 P 0.08 N -3.84 D -0.940 T 0.000 T 0.008 0.185 4.997 -10.1 -1.566 -1.295 3.035 0.185066 NA 1 0.606762 0.694185 NA 0.565 NA 8.5911714 793 1 7913004 7913004 A G exonic UTS2 NA synonymous SNV UTS2:NM_006786:exon1:c.T60C:p.S20S exonic ENSG00000049247 NA synonymous SNV ENSG00000049247:ENST00000361696:exon1:c.T60C:p.S20S,ENSG00000049247:ENST00000377516:exon2:c.T60C:p.S20S Score=289;Name=lod=20 NA 1p36.23 NA Name=GATA2_(CG2-96) Name=11 NA rs45512694 0.02 0.02 0.018 0.0231629 0.0258 0.006 0.0259 NA 0.0675 0.02 0.01 0.04 NA 0.023 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353247 NA NA 0.02686 0.003631 NA 0.007 NA 8.5910066 793 11 71548465 71548465 A G exonic DEFB108B NA nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.A79G:p.I27V exonic ENSG00000184276 NA nonsynonymous SNV ENSG00000184276:ENST00000328698:exon2:c.A79G:p.I27V NA NA 11q13.4 NA NA NA NA rs12285436 0.46 0.46 0.45 0.446885 0.5984 0.3631 0.3732 0.329 0.589 0.61 0.37 0.42 0.37 0.5364 0.61 0.18 T 0.017 B 0.007 B 0.736 N 1.000 P . . 2.71 T -0.966 T 0.000 T 0.062 1.515 11.02 -2.97 -0.962 -1.707 3.030 1.515361 1.515361 0 0.607617 0.374773 NA 0.043 NA 8.5909164 793 17 6515387 6515387 A G exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon8:c.T1397C:p.L466P exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000542606:exon6:c.T500C:p.L167P,ENSG00000198920:ENST00000572370:exon7:c.T500C:p.L167P,ENSG00000198920:ENST00000361413:exon8:c.T1397C:p.L466P NA NA 17p13.1 NA NA Name=6 NA rs2289642 0.66 0.66 0.674 0.689097 0.5467 0.7103 0.6801 0.8253 0.636 0.53 0.68 0.67 0.82 0.6224 0.82 0.43 T 0.0 B 0.0 B 0.285 N 1.000 P -1.445 N 2.87 T -1.017 T 0.000 T 0.128 -0.79 0.702 -3.82 -1.047 -0.776 5.043 -0.790487 NA 0 0.573683 0.783791 NA 0.812 NA 8.5905504 793 19 53993923 53993923 C T exonic ZNF813 NA nonsynonymous SNV ZNF813:NM_001004301:exon4:c.C437T:p.S146L exonic ENSG00000198346 NA nonsynonymous SNV ENSG00000198346:ENST00000468450:exon3:c.C278T:p.S93L,ENSG00000198346:ENST00000396403:exon4:c.C437T:p.S146L NA NA 19q13.42 NA NA NA NA rs35712939 0.19 0.19 0.166 0.20008 0.2565 0.0615 0.2003 0.2133 0.2669 0.26 0.05 0.22 0.23 0.2313 0.26 0.07 T 0.356 B 0.049 B . . 0.429 P 1.915 M 3.76 T -0.944 T 0.000 T 0.108 0.704 7.752 0.961 0.820 -1.331 5.222 0.703554 NA 0.23 0.256109 0.211984 NA 0.225 NA 8.5894244 793 17 6493198 6493198 T C exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon18:c.A2687G:p.Q896R exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000576281:exon3:c.A275G:p.Q92R,ENSG00000198920:ENST00000589033:exon11:c.A1055G:p.Q352R,ENSG00000198920:ENST00000542606:exon16:c.A1790G:p.Q597R,ENSG00000198920:ENST00000572370:exon17:c.A1790G:p.Q597R,ENSG00000198920:ENST00000361413:exon18:c.A2687G:p.Q896R Score=313;Name=lod=25 NA 17p13.2 NA NA NA NA rs1443417 0.66 0.66 0.675 0.688898 0.5477 0.7093 0.6787 0.8253 0.636 0.53 0.68 0.67 0.82 0.6225 0.82 0.42 T 0.0 B 0.0 B 0.038 N 1.000 P -1.52 N 1.02 T -1.018 T 0.000 T 0.052 -0.857 0.533 2.43 0.088 1.060 5.420 -0.857067 NA 0.38 0.573975 0.778947 NA 0.812 NA 8.5891584 793 9 115950706 115950706 A C exonic FKBP15 NA nonsynonymous SNV FKBP15:NM_015258:exon13:c.T1239G:p.H413Q exonic ENSG00000119321 NA nonsynonymous SNV ENSG00000119321:ENST00000238256:exon13:c.T1239G:p.H413Q,ENSG00000119321:ENST00000414250:exon13:c.T1314G:p.H438Q,ENSG00000119321:ENST00000446284:exon13:c.T1314G:p.H438Q Score=449;Name=lod=89 NA 9q32 NA NA Name=48 NA rs10435864 0.53 0.53 0.523 0.526957 0.6024 0.4345 0.5072 0.4887 0.6104 0.61 0.49 0.5 0.48 0.5643 0.61 1 T 0.0 B 0.0 B . . 1.000 P -2.045 N 2.14 T -0.920 T 0.000 T 0.052 -0.824 0.614 3.86 0.378 0.137 8.420 -0.823904 NA 1 0.577765 0.506512 NA 0.5 NA 8.5888684 793 21 35281393 35281393 A G exonic ATP5O NA synonymous SNV ATP5O:NM_001697:exon4:c.T321C:p.N107N exonic ENSG00000241837,ENSG00000249209 NA synonymous SNV ENSG00000241837:ENST00000290299:exon4:c.T321C:p.N107N Score=458;Name=lod=97 NA 21q22.11 NA Name=CTCF_(SC-5916) NA NA rs4591 0.68 0.68 0.7 0.702077 0.6958 0.7391 0.5591 0.7352 0.727 0.67 0.7 0.6 0.74 0.6899 0.74 . . . . . . . . 0.000 P . . . . -0.985 T 0.000 T . -0.34 2.391 2.59 0.021 2.282 9.599 -0.339922 NA NA 0.694651 0.712211 NA 0.63 NA 8.5863156 793 20 3672647 3672647 C T exonic SIGLEC1 NA synonymous SNV SIGLEC1:NM_023068:exon16:c.G4233A:p.L1411L exonic ENSG00000088827 NA synonymous SNV ENSG00000088827:ENST00000202578:exon16:c.G4233A:p.L1411L,ENSG00000088827:ENST00000344754:exon16:c.G4233A:p.L1411L Score=336;Name=lod=31 NA 20p13 NA NA NA NA rs35964604 0.03 0.03 0.039 0.0299521 0.0268 NA 0.013 0.0643 0.0297 0.03 NA 0.01 0.08 0.0268 0.08 . . . . . . . . 1.000 D . . . . -1.135 T 0.015 T . -0.91 0.418 1.4 0.031 -0.408 7.370 -0.90974 NA NA 0.02686 0.054925 NA 0.036 NA 8.5862066 794 15 85383145 85383145 C G exonic ALPK3 NA nonsynonymous SNV ALPK3:NM_020778:exon5:c.C1241G:p.T414S exonic ENSG00000136383 NA nonsynonymous SNV ENSG00000136383:ENST00000258888:exon5:c.C1241G:p.T414S NA NA 15q25.3 NA NA NA NA rs3803403 0.16 0.16 0.138 0.136382 0.2575 0.1329 0.1628 0.0159 0.1595 0.26 0.14 0.2 0.01 0.2202 0.27 0.4 T 0.146 B 0.057 B 0.766 N 1.000 P 0.69 N 0.26 T -1.026 T 0.000 T 0.122 -0.262 2.744 2.95 0.981 0.517 4.282 -0.261585 NA 0.03 0.271458 0.05606 NA 0.239 NA 8.5841754 794 1 47611598 47611598 T C exonic CYP4A22 NA nonsynonymous SNV CYP4A22:NM_001010969:exon10:c.T1283C:p.L428P exonic ENSG00000162365 NA nonsynonymous SNV ENSG00000162365:ENST00000371890:exon8:c.T989C:p.L330P,ENSG00000162365:ENST00000294337:exon10:c.T1283C:p.L428P,ENSG00000162365:ENST00000371891:exon10:c.T1283C:p.L428P Score=389;Name=lod=51 NA 1p33 NA NA NA NA rs2405599 0.31 0.31 0.298 0.375799 0.2237 0.6141 0.2896 0.2239 0.5532 0.21 0.59 0.25 0.2 0.3026 0.59 1 T 0.001 B 0.004 B 0.000 N 0.002 P -3.695 N 1.64 T -0.934 T 0.000 T 0.173 -1.395 0.023 0.642 -0.120 3.694 5.799 -1.39492 NA 1 0.224535 0.253518 NA 0.268 NA 8.5824984 794 10 90673070 90673070 G A exonic STAMBPL1 NA synonymous SNV STAMBPL1:NM_020799:exon6:c.G633A:p.L211L exonic ENSG00000138134 NA synonymous SNV ENSG00000138134:ENST00000371922:exon1:c.G135A:p.L45L,ENSG00000138134:ENST00000371924:exon5:c.G633A:p.L211L,ENSG00000138134:ENST00000371926:exon6:c.G633A:p.L211L,ENSG00000138134:ENST00000371927:exon6:c.G633A:p.L211L Score=369;Name=lod=42 NA 10q23.31 NA Name=p300 Name=53 NA rs35493467 0.01 0.01 0.017 0.00798722 0.0328 NA 0.0072 0.0008 0.001 0.04 NA 0.01 NA 0.0224 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105454 NA NA 0.029302 0.006809 NA 0.051 NA 8.5821646 794 14 51224417 51224417 G C exonic NIN NA nonsynonymous SNV NIN:NM_020921:exon18:c.C3331G:p.P1111A,NIN:NM_182944:exon18:c.C3331G:p.P1111A,NIN:NM_182946:exon18:c.C3331G:p.P1111A exonic ENSG00000100503 NA nonsynonymous SNV ENSG00000100503:ENST00000530997:exon16:c.C3331G:p.P1111A,ENSG00000100503:ENST00000245441:exon18:c.C3331G:p.P1111A,ENSG00000100503:ENST00000324330:exon18:c.C3331G:p.P1111A,ENSG00000100503:ENST00000382041:exon18:c.C3331G:p.P1111A,ENSG00000100503:ENST00000453196:exon18:c.C3331G:p.P1111A,ENSG00000100503:ENST00000476352:exon18:c.C3331G:p.P1111A NA NA 14q22.1 NA NA NA NA rs2236316 0.18 0.18 0.172 0.186302 0.2734 0.1617 0.2565 0.0628 0.2393 0.25 0.15 0.23 0.09 0.2272 0.25 0.85 T 0.002 B 0.004 B 0.355 N 1.000 P 1.355 L 3.57 T -0.915 T 0.000 T 0.237 -2.004 0.007 -4.1 -0.361 -0.337 8.488 -2.003729 NA 1 0.250814 0.103495 NA 0.109 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117803.2;CLNDSDB=.;CLNDSDBID=. 8.5819194 794 6 30080231 30080231 G A exonic TRIM31 NA nonsynonymous SNV TRIM31:NM_007028:exon2:c.C352T:p.R118C exonic ENSG00000204616 NA nonsynonymous SNV ENSG00000204616:ENST00000376734:exon2:c.C352T:p.R118C,ENSG00000204616:ENST00000540829:exon2:c.C352T:p.R118C NA NA 6p22.1 NA NA NA NA rs3734838 0.08 0.08 0.077 0.0694888 0.0775 0.1141 0.0605 0.0333 0.0706 0.08 0.13 0.06 0.02 0.0886 0.13 0.13 T 0.773 P 0.302 B 0.246 N 1.000 P 0.695 N 0.93 T -1.086 T 0.029 T 0.103 0.754 7.995 1.08 0.073 -3.431 7.870 0.754104 NA 0.16 0.08804 0.046658 NA 0.043 NA 8.5791934 794 2 228883029 228883029 A C exonic SPHKAP NA nonsynonymous SNV SPHKAP:NM_001142644:exon7:c.T2541G:p.H847Q,SPHKAP:NM_030623:exon7:c.T2541G:p.H847Q exonic ENSG00000153820 NA nonsynonymous SNV ENSG00000153820:ENST00000344657:exon7:c.T2541G:p.H847Q,ENSG00000153820:ENST00000392056:exon7:c.T2541G:p.H847Q NA NA 2q36.3 NA NA NA NA rs3811515 0.21 0.21 0.214 0.222644 0.2406 0.2242 0.2464 0.0318 0.4438 0.25 0.27 0.27 0.05 0.2643 0.27 0.04 D 0.019 B 0.012 B 0.367 N 1.000 P 2.015 M 2.8 T -0.960 T 0.000 T 0.032 0.227 5.226 0.984 0.148 0.219 6.064 0.227206 NA 0.11 0.251977 0.064004 ID=COSM149085;OCCURENCE=1(stomach) 0.217 NA 8.5764564 794 6 56327849 56327849 C T exonic DST NA nonsynonymous SNV DST:NM_015548:exon82:c.G15124A:p.A5042T,DST:NM_183380:exon92:c.G16102A:p.A5368T,DST:NM_001144770:exon93:c.G16222A:p.A5408T,DST:NM_001144769:exon95:c.G16636A:p.A5546T exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000244364:exon82:c.G15124A:p.A5042T Score=703;Name=lod=960 NA 6p12.1 Score=785;Name=V$ARNT_02 NA NA NA rs11758339 0.2 0.2 0.195 0.21865 0.2515 0.2401 0.2507 0.0802 0.3272 0.24 0.23 0.28 0.07 0.2455 0.28 1 T 0.0 B 0.002 B . . 1.000 P 0.14 N 1.07 T -0.971 T 0.015 T 0.001 1.295 10.24 1.9 0.335 0.212 7.175 1.295014 1.295014 0.75 0.260582 0.101341 NA 0.203 NA 8.5757514 795 2 160743040 160743040 T A exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon5:c.A804T:p.E268D,LY75-CD302:NM_001198760:exon5:c.A804T:p.E268D,LY75:NM_002349:exon5:c.A804T:p.E268D exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon5:c.A804T:p.E268D,ENSG00000248672:ENST00000504764:exon5:c.A804T:p.E268D,ENSG00000248672:ENST00000505052:exon5:c.A804T:p.E268D,ENSG00000054219:ENST00000553424:exon5:c.A804T:p.E268D,ENSG00000054219:ENST00000554112:exon5:c.A804T:p.E268D Score=403;Name=lod=58 NA 2q24.2 NA NA NA NA rs2271381 0.2 0.2 0.179 0.235423 0.2555 0.1964 0.1916 0.0688 0.5112 0.26 0.2 0.23 0.07 0.2595 0.26 0.52 T 0.008 B 0.015 B 0.269 N 0.997 P 0.315 N 0.58 T -1.018 T 0.000 T 0.08 1.444 10.77 1.79 0.986 0.544 1.447 1.443503 1.443503 0.53 0.243488 0.104857 NA 0.217 NA 8.5748454 795 8 9413875 9413875 T C exonic TNKS NA synonymous SNV TNKS:NM_003747:exon1:c.T426C:p.S142S exonic ENSG00000173273 NA synonymous SNV ENSG00000173273:ENST00000310430:exon1:c.T426C:p.S142S,ENSG00000173273:ENST00000520408:exon1:c.T426C:p.S142S,ENSG00000173273:ENST00000522110:exon1:c.T426C:p.S142S Score=500;Name=lod=143 NA 8p23.1 NA Name=Pol2,NRSF,ZNF263 Name=100 NA rs33985989 0.02 0.02 0.009 0.00998403 0.0288 0.001 0.0245 0.0008 0.002 0.03 NA 0.03 NA 0.0247 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.477207 1.477207 NA 0.039651 0.006582 NA 0.007 NA 8.5735156 795 13 52515354 52515354 A G exonic ATP7B NA nonsynonymous SNV ATP7B:NM_001005918:exon12:c.T2798C:p.V933A,ATP7B:NM_000053:exon16:c.T3419C:p.V1140A,ATP7B:NM_001243182:exon17:c.T3086C:p.V1029A exonic ENSG00000123191 NA nonsynonymous SNV ENSG00000123191:ENST00000400370:exon8:c.T2129C:p.V710A,ENSG00000123191:ENST00000417240:exon9:c.T1052C:p.V351A,ENSG00000123191:ENST00000344297:exon12:c.T2798C:p.V933A,ENSG00000123191:ENST00000418097:exon15:c.T3224C:p.V1075A,ENSG00000123191:ENST00000448424:exon15:c.T3185C:p.V1062A,ENSG00000123191:ENST00000242839:exon16:c.T3419C:p.V1140A,ENSG00000123191:ENST00000400366:exon17:c.T3086C:p.V1029A NA NA 13q14.3 Score=785;Name=V$PPARG_03 NA NA NA rs1801249 0.53 0.53 0.512 0.540535 0.6034 0.4008 0.5893 0.5741 0.5399 0.59 0.4 0.6 0.53 0.5653 0.6 0.91 T 0.001 B 0.038 B 0.057 N 1.000 P 0 N -3.78 D -0.954 T 0.000 T 0.021 -1.739 0.011 0.087 -0.133 0.110 1.657 -1.739159 NA 0.79 0.591195 0.548287 NA 0.522 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029369.1|RCV000078051.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 8.5734384 795 2 38536626 38536626 T G exonic ATL2 NA synonymous SNV ATL2:NM_001135673:exon9:c.A966C:p.R322R,ATL2:NM_022374:exon9:c.A966C:p.R322R exonic ENSG00000119787 NA synonymous SNV ENSG00000119787:ENST00000449130:exon5:c.A420C:p.R140R,ENSG00000119787:ENST00000402054:exon8:c.A453C:p.R151R,ENSG00000119787:ENST00000406122:exon8:c.A453C:p.R151R,ENSG00000119787:ENST00000539122:exon8:c.A453C:p.R151R,ENSG00000119787:ENST00000546051:exon8:c.A453C:p.R151R,ENSG00000119787:ENST00000332337:exon9:c.A912C:p.R304R,ENSG00000119787:ENST00000378954:exon9:c.A966C:p.R322R,ENSG00000119787:ENST00000419554:exon9:c.A966C:p.R322R,ENSG00000119787:ENST00000452935:exon9:c.A912C:p.R304R Score=683;Name=lod=799 NA 2p22.2 NA NA NA NA rs2305243 0.29 0.29 0.27 0.327476 0.3718 0.1925 0.3285 0.2708 0.4969 0.37 0.19 0.33 0.25 0.3623 0.37 . . . . . . . . 0.000 P . . . . -0.922 T 0.000 T . 1.372 10.52 5.03 1.168 -0.313 4.788 1.372303 1.372303 NA 0.359767 0.271902 ID=COSM148845;OCCURENCE=1(stomach) 0.268 NA 8.5727996 795 2 1497803 1497803 C T exonic TPO NA synonymous SNV TPO:NM_175722:exon9:c.C1479T:p.D493D,TPO:NM_001206745:exon10:c.C1827T:p.D609D,TPO:NM_175719:exon10:c.C1827T:p.D609D,TPO:NM_175721:exon10:c.C1998T:p.D666D,TPO:NM_000547:exon11:c.C1998T:p.D666D,TPO:NM_001206744:exon11:c.C1998T:p.D666D exonic ENSG00000115705 NA synonymous SNV ENSG00000115705:ENST00000469607:exon2:c.C420T:p.D140D,ENSG00000115705:ENST00000422464:exon8:c.C1785T:p.D595D,ENSG00000115705:ENST00000382198:exon9:c.C1479T:p.D493D,ENSG00000115705:ENST00000349624:exon10:c.C1479T:p.D493D,ENSG00000115705:ENST00000382201:exon10:c.C1827T:p.D609D,ENSG00000115705:ENST00000329066:exon11:c.C1998T:p.D666D,ENSG00000115705:ENST00000337415:exon11:c.C1998T:p.D666D,ENSG00000115705:ENST00000345913:exon11:c.C1998T:p.D666D,ENSG00000115705:ENST00000346956:exon11:c.C1998T:p.D666D NA NA 2p25.3 NA NA NA NA rs1126797 0.38 0.38 0.386 0.359026 0.3688 0.4067 0.3689 0.3147 0.3528 0.36 0.43 0.38 0.34 0.363 0.43 . . . . . . . . 0.000 P . . . . -1.037 T 0.000 T . -1.16 0.096 -9.63 -1.948 -4.038 9.861 -1.159934 NA NA 0.365116 0.322061 NA 0.362 NA 8.5697506 795 13 43597865 43597865 A G exonic DNAJC15 NA nonsynonymous SNV DNAJC15:NM_013238:exon1:c.A103G:p.R35G exonic ENSG00000120675 NA nonsynonymous SNV ENSG00000120675:ENST00000379221:exon1:c.A103G:p.R35G NA NA 13q14.11 NA Name=TCF4,NRSF,Pol2,YY1_(C-20),TAF1,POU2F2,CTCF,Oct-2,Egr-1,NANOG_(SC-33759),Pol2-4H8,HA-E2F1,Pol2(b),TBP,HEY1,NFKB,CTCF_(C-20),PAX5-C20 Name=140 NA rs12015 0.24 0.24 0.227 0.235823 0.2535 0.1002 0.2219 0.4281 0.1074 0.26 0.11 0.22 0.37 0.2704 0.41 0.45 T 0.0 B 0.0 B 0.608 N 1.000 P -0.975 N 0.91 T -0.918 T 0.000 T 0.027 0.346 5.877 0.561 -0.381 -0.682 4.356 0.345947 NA 0.6 0.239767 0.407584 ID=COSM1477232,COSM432407;OCCURENCE=1(breast) 0.246 NA 8.5696664 795 6 52617731 52617731 C G exonic GSTA2 NA nonsynonymous SNV GSTA2:NM_000846:exon5:c.G335C:p.S112T exonic ENSG00000244067 NA nonsynonymous SNV ENSG00000244067:ENST00000493422:exon5:c.G335C:p.S112T NA NA 6p12.2 NA NA NA NA rs2180314 0.55 0.55 0.513 0.536342 0.5835 0.6845 0.6772 0.2882 0.5706 0.57 0.7 0.67 0.27 0.5917 0.7 0.59 T 0.0 B 0.001 B 0.037 N 1.000 P -0.64 N 4.52 T -0.906 T 0.001 T 0.036 -1.098 0.145 -4.51 -1.211 -3.139 1.606 -1.097912 NA NA 0.588605 0.327962 NA 0.558 NA 8.5695284 795 8 124696867 124696867 C T exonic ANXA13 NA nonsynonymous SNV ANXA13:NM_004306:exon10:c.G814A:p.V272I,ANXA13:NM_001003954:exon11:c.G937A:p.V313I exonic ENSG00000104537 NA nonsynonymous SNV ENSG00000104537:ENST00000419625:exon10:c.G814A:p.V272I,ENSG00000104537:ENST00000262219:exon11:c.G937A:p.V313I Score=300;Name=lod=22 Name=Event-related brain oscillations 8q24.13 Score=849;Name=V$CART1_01 NA NA NA rs2294015 0.64 0.64 0.636 0.696086 0.5577 0.498 0.6571 0.938 0.7434 0.56 0.51 0.62 0.93 0.6241 0.93 0.84 T 0.0 B 0.001 B 0.020 N 1.000 P -0.325 N 4.04 T -1.029 T 0.000 T 0.058 -0.704 0.96 0.118 -0.161 0.948 1.559 -0.703706 NA 1 0.584767 0.87222 NA 0.717 NA 8.5667664 795 15 84706461 84706461 C T exonic ADAMTSL3 NA nonsynonymous SNV ADAMTSL3:NM_207517:exon30:c.C4979T:p.T1660I exonic ENSG00000156218 NA nonsynonymous SNV ENSG00000156218:ENST00000286744:exon30:c.C4979T:p.T1660I Score=517;Name=lod=169 NA 15q25.2 NA NA NA NA rs950169 0.15 0.15 0.135 0.128994 0.2734 0.0536 0.1787 0.0113 0.182 0.28 0.05 0.2 0.02 0.2231 0.28 0.12 T 0.0 B 0.001 B 0.383 N 0.000 P 0.895 L 0.93 T -1.008 T 0.000 T 0.063 1.861 12.18 -0.022 0.071 2.507 3.863 1.861131 1.861131 0.07 0.270179 0.047662 NA 0.13 NA 8.5666544 795 11 5718517 5718517 G A exonic TRIM22 NA nonsynonymous SNV TRIM22:NM_001199573:exon3:c.G463A:p.D155N,TRIM22:NM_006074:exon3:c.G463A:p.D155N exonic ENSG00000132274 NA nonsynonymous SNV ENSG00000132274:ENST00000379965:exon3:c.G463A:p.D155N,ENSG00000132274:ENST00000414641:exon3:c.G463A:p.D155N,ENSG00000132274:ENST00000425490:exon4:c.G463A:p.D155N NA NA 11p15.4 NA NA NA NA rs7935564 0.46 0.46 0.451 0.457069 0.6372 0.1766 0.4928 0.4728 0.5143 0.63 0.18 0.49 0.47 0.5329 0.63 0.01 D 0.143 B 0.085 B . . 1.000 P 0.69 N -0.08 T -0.933 T 0.000 T 0.063 2.227 13.4 -4.48 -0.659 -2.582 2.263 2.227061 2.227061 0.01 0.596611 0.49763 NA 0.529 NA 8.5666224 796 8 18729817 18729817 G A exonic PSD3 NA nonsynonymous SNV PSD3:NM_015310:exon3:c.C557T:p.T186M exonic ENSG00000156011 NA nonsynonymous SNV ENSG00000156011:ENST00000523619:exon2:c.C362T:p.T121M,ENSG00000156011:ENST00000327040:exon3:c.C557T:p.T186M,ENSG00000156011:ENST00000440756:exon3:c.C557T:p.T186M NA NA 8p22 NA Name=CTCF NA NA rs7016219 0.67 0.67 0.275 0.852835 0.671 0.9772 0.8012 0.9289 0.8456 0.53 0.83 0.65 0.72 0.756 0.83 0.21 T 0.071 B 0.022 B 0.000 N 1.000 P 0.345 N 1.45 T -0.977 T 0.000 T 0.043 -0.194 3.06 -4.68 -1.324 -0.637 9.031 -0.193517 NA 0.22 0.341353 0.574124 NA NA NA 8.5649804 796 5 70849021 70849021 G T exonic BDP1 NA synonymous SNV BDP1:NM_018429:exon35:c.G7074T:p.P2358P exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000380675:exon34:c.G1295T:p.R432L Score=352;Name=lod=36 NA 5q13.2 NA NA NA NA rs469039 0.42 0.42 0.421 0.432708 0.4911 0.379 0.3444 0.385 0.5552 0.5 0.39 0.35 0.38 0.462 0.5 0 D . . . . . . 0.244 P . . 0.75 T -0.923 T 0.000 T . -1.67 0.012 2.34 0.325 0.510 1.693 -1.669849 NA 0 0.484117 0.3732 NA 0.406 NA 8.562783 796 10 26463130 26463130 C A exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon30:c.C3937A:p.R1313S exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000265944:exon30:c.C3937A:p.R1313S NA NA 10p12.1 NA NA NA NA rs1999240 0.62 0.62 0.622 0.601038 0.6004 0.6329 0.634 0.5545 0.6084 0.61 0.67 0.6 0.58 0.5987 0.67 0.75 T 0.0 B 0.0 B 0.001 N 0.000 P 0 N -1.16 T -0.920 T 0.000 T 0.009 -1.94 0.007 4.07 0.300 3.235 8.659 -1.940455 NA 1 0.571628 0.545393 NA 0.601 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039038.1;CLNDSDB=.;CLNDSDBID=. 8.5626054 796 3 57494165 57494165 C G exonic DNAH12 NA synonymous SNV DNAH12:NM_178504:exon7:c.G645C:p.L215L,DNAH12:NM_198564:exon7:c.G645C:p.L215L exonic ENSG00000174844 NA synonymous SNV ENSG00000174844:ENST00000311202:exon7:c.G645C:p.L215L,ENSG00000174844:ENST00000351747:exon7:c.G645C:p.L215L,ENSG00000174844:ENST00000389536:exon7:c.G645C:p.L215L,ENSG00000174844:ENST00000495027:exon7:c.G645C:p.L215L Score=399;Name=lod=56 NA 3p14.3 Score=851;Name=V$FOXJ2_02 NA Name=3 NA rs10510794 0.04 0.04 0.039 0.048722 0.0378 NA 0.0476 0.1188 0.0164 0.03 NA 0.03 0.12 0.0339 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76344 NA NA 0.032922 0.110758 NA 0.072 NA 8.5620446 796 20 31688260 31688260 C T exonic BPIFB4 NA nonsynonymous SNV BPIFB4:NM_182519:exon12:c.C1598T:p.T533I exonic ENSG00000186191 NA nonsynonymous SNV ENSG00000186191:ENST00000375483:exon12:c.C1598T:p.T533I Score=321;Name=lod=27 NA 20q11.21 NA NA NA NA rs11696307 0.48 0.48 0.484 0.472644 0.6044 0.247 0.5187 0.5189 0.4744 0.6 0.24 0.54 0.52 0.5539 0.61 0.3 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 3.3 T -1.034 T 0.000 T 0.105 0.572 7.09 4.67 0.463 1.778 10.320 0.571892 NA 0.35 0.613721 0.549705 NA 0.493 NA 8.5613124 796 1 207782931 207782931 A G exonic CR1 NA nonsynonymous SNV CR1:NM_000573:exon29:c.A4843G:p.I1615V,CR1:NM_000651:exon37:c.A6193G:p.I2065V exonic ENSG00000203710 NA nonsynonymous SNV ENSG00000203710:ENST00000367051:exon29:c.A4843G:p.I1615V,ENSG00000203710:ENST00000367052:exon29:c.A4843G:p.I1615V,ENSG00000203710:ENST00000367053:exon29:c.A4843G:p.I1615V,ENSG00000203710:ENST00000400960:exon29:c.A4843G:p.I1615V,ENSG00000203710:ENST00000367049:exon37:c.A6193G:p.I2065V NA NA 1q32.2 NA NA NA NA rs6691117 0.39 0.39 0.382 0.493411 0.2256 0.3433 0.3761 0.8722 0.4949 0.22 0.25 0.37 0.83 0.3341 0.83 1 T 0.001 B 0.005 B . . 1.000 P -1.78 N 0.17 T -0.964 T 0.000 T 0.057 -1.51 0.017 2.54 0.637 2.671 5.531 -1.509804 NA 1 0.213248 0.751169 NA 0.413 NA 8.5603854 796 12 60173356 60173356 A T exonic SLC16A7 NA nonsynonymous SNV SLC16A7:NM_004731:exon5:c.A1333T:p.T445S,SLC16A7:NM_001270622:exon6:c.A1333T:p.T445S,SLC16A7:NM_001270623:exon6:c.A1333T:p.T445S exonic ENSG00000118596 NA nonsynonymous SNV ENSG00000118596:ENST00000261187:exon5:c.A1333T:p.T445S,ENSG00000118596:ENST00000547379:exon6:c.A1333T:p.T445S,ENSG00000118596:ENST00000552432:exon6:c.A1333T:p.T445S,ENSG00000118596:ENST00000543448:exon7:c.A1036T:p.T346S,ENSG00000118596:ENST00000552024:exon7:c.A1333T:p.T445S NA NA 12q14.1 NA NA NA NA rs3763980 0.28 0.28 0.278 0.245008 0.3002 0.3175 0.1801 0.2088 0.2086 0.29 0.33 0.24 0.21 0.2338 0.33 . . 0.0 B 0.002 B 0.256 N 1.000 P -0.695 N 2.49 T -0.933 T 0.000 T 0.027 -1.902 0.008 -2.51 -0.635 1.138 2.930 -1.902371 NA 1 0.238953 0.211984 NA 0.268 NA 8.5603804 796 6 17675246 17675246 T C exonic NUP153 NA nonsynonymous SNV NUP153:NM_005124:exon5:c.A742G:p.I248V exonic ENSG00000124789 NA nonsynonymous SNV ENSG00000124789:ENST00000262077:exon5:c.A742G:p.I248V,ENSG00000124789:ENST00000537253:exon5:c.A742G:p.I248V NA NA 6p22.3 NA NA NA NA rs2228375 0.14 0.14 0.108 0.120807 0.2376 0.0456 0.2839 0.0159 0.1043 0.26 0.05 0.21 0.02 0.2441 0.29 1 T 0.0 B 0.003 B 0.192 N 1.000 P 0.57 N 1.55 T -1.032 T 0.010 T 0.015 -1.326 0.032 -11.5 -2.927 -1.085 11.415 -1.32554 NA 0.75 0.293837 0.05901 NA 0.239 NA 8.5577964 796 19 9059159 9059159 T G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A28287C:p.K9429N exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A28287C:p.K9429N NA NA 19p13.2 NA NA NA NA rs12462651 0.15 0.15 0.133 0.146366 0.0865 0.2669 0.1787 0.087 0.1411 0.09 0.3 0.15 0.08 0.1124 0.3 0 D 0.478 P 0.181 B . . . . 0.695 N 1.66 T -0.967 T 0.000 T 0.016 0.227 5.225 -1.81 -0.484 -0.820 4.252 0.227014 NA 0.15 0.076997 0.095982 NA 0.145 NA 8.5574364 796 22 18912678 18912678 A G exonic PRODH NA nonsynonymous SNV PRODH:NM_001195226:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon5:c.T553C:p.W185R exonic ENSG00000100033 NA nonsynonymous SNV ENSG00000100033:ENST00000334029:exon4:c.T229C:p.W77R,ENSG00000100033:ENST00000357068:exon4:c.T553C:p.W185R,ENSG00000100033:ENST00000420436:exon4:c.T229C:p.W77R,ENSG00000100033:ENST00000450579:exon4:c.T76C:p.W26R Score=481;Name=lod=120 NA 22q11.21 NA NA NA NA rs4819756 0.74 0.74 0.783 0.78095 0.5567 0.9712 0.6715 0.916 0.7106 0.53 0.97 0.65 0.87 0.6417 0.97 0.53 T 0.0 B 0.0 B 0.094 N 0.999 P . . -0.92 T -0.991 T 0.000 T 0.068 -1.216 0.065 2.88 0.250 3.683 6.438 -1.215883 NA 0.67 0.577558 0.862006 NA 0.652 NA 8.5573754 796 4 114213631 114213631 C T exonic ANK2 NA synonymous SNV ANK2:NM_001148:exon21:c.C2337T:p.V779V,ANK2:NM_020977:exon21:c.C2337T:p.V779V,ANK2:NM_001127493:exon22:c.C2274T:p.V758V exonic ENSG00000145362 NA synonymous SNV ENSG00000145362:ENST00000264366:exon21:c.C2337T:p.V779V,ENSG00000145362:ENST00000357077:exon21:c.C2337T:p.V779V,ENSG00000145362:ENST00000394537:exon21:c.C2337T:p.V779V,ENSG00000145362:ENST00000503423:exon21:c.C2175T:p.V725V,ENSG00000145362:ENST00000503271:exon22:c.C2274T:p.V758V,ENSG00000145362:ENST00000504454:exon22:c.C2382T:p.V794V,ENSG00000145362:ENST00000506722:exon22:c.C2274T:p.V758V Score=612;Name=lod=409 NA 4q26 NA Name=Pol2-4H8,NANOG_(SC-33759) Name=58 NA rs29341 0.03 0.03 0.023 0.0215655 0.0368 NA 0.0245 0.0325 0.0112 0.04 NA 0.04 0.03 0.0363 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.628258 1.628258 NA 0.036628 0.026555 NA 0.007 NA 8.5569386 797 16 71318577 71318577 T C exonic FTSJD1 NA nonsynonymous SNV FTSJD1:NM_001099642:exon3:c.A1247G:p.N416S,FTSJD1:NM_018348:exon3:c.A1247G:p.N416S exonic ENSG00000180917 NA nonsynonymous SNV ENSG00000180917:ENST00000338099:exon3:c.A1247G:p.N416S,ENSG00000180917:ENST00000434935:exon3:c.A1247G:p.N416S Score=462;Name=lod=101 NA 16q22.2 NA NA NA NA rs3803704 0.29 0.29 0.263 0.277955 0.2485 0.2103 0.4784 0.2852 0.226 0.26 0.23 0.45 0.3 0.2804 0.45 0.64 T 0.001 B 0.002 B 0.003 N 0.643 P 1.445 L 2.6 T -0.920 T 0.000 T 0.003 -0.721 0.906 2.53 0.503 0.147 8.913 -0.720809 NA 0.36 0.251284 0.257859 ID=COSM435711;OCCURENCE=1(breast) 0.341 NA 8.5531494 797 19 9062415 9062415 T G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A25031C:p.D8344A exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A25031C:p.D8344A NA NA 19p13.2 NA NA NA NA rs12978757 0.6 0.6 0.597 0.588658 0.5646 0.6042 0.6801 0.5507 0.5838 0.57 0.66 0.64 0.53 0.6042 0.66 0 D 0.0 B 0.0 B . . . . -0.895 N 1.99 T -0.942 T 0.000 T 0.036 0.046 4.255 -5.0 -1.816 -0.632 7.046 0.046398 NA 0.44 0.61161 0.555582 NA 0.638 NA 8.5529234 797 19 20807185 20807185 C T exonic ZNF626 NA nonsynonymous SNV ZNF626:NM_001076675:exon4:c.G1498A:p.E500K exonic ENSG00000188171 NA nonsynonymous SNV ENSG00000188171:ENST00000601440:exon4:c.G1498A:p.E500K Score=358;Name=lod=38 NA 19p12 NA NA NA NA rs10408597 0.64 0.64 0.518 0.744409 0.8807 0.8115 0.8473 0.5174 0.7689 0.73 0.71 0.78 0.3 0.189 0.78 1 T 0.0 B 0.0 B . . 0.000 P -1.04 N . . -0.949 T 0.000 T 0.013 -1.721 0.011 0.832 -1.581 -0.960 2.279 -1.720816 NA 1 0.714626 0.346334 ID=COSM439062;OCCURENCE=1(breast) NA NA 8.5490074 797 1 200867552 200867552 C T exonic C1orf106 NA synonymous SNV C1orf106:NM_001142569:exon2:c.C24T:p.S8S,C1orf106:NM_018265:exon2:c.C321T:p.S107S exonic ENSG00000163362 NA synonymous SNV ENSG00000163362:ENST00000367342:exon2:c.C279T:p.S93S,ENSG00000163362:ENST00000413687:exon2:c.C24T:p.S8S,ENSG00000163362:ENST00000451872:exon2:c.C24T:p.S8S,ENSG00000163362:ENST00000532631:exon2:c.C24T:p.S8S Score=475;Name=lod=114 NA 1q32.1 Score=832;Name=V$ATF_01 NA Name=20 NA rs2271017 0.06 0.06 0.058 0.0515176 0.0378 0.1478 0.0159 0.0174 0.0378 0.04 0.13 0.02 0.03 0.0429 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239828 1.239828 NA 0.037791 0.019065 ID=COSM146723;OCCURENCE=1(stomach) 0.014 NA 8.5481756 797 9 104032338 104032338 C T exonic LPPR1 NA synonymous SNV LPPR1:NM_017753:exon3:c.C240T:p.T80T,LPPR1:NM_207299:exon3:c.C240T:p.T80T exonic ENSG00000148123 NA synonymous SNV ENSG00000148123:ENST00000374874:exon3:c.C240T:p.T80T,ENSG00000148123:ENST00000395056:exon3:c.C240T:p.T80T,ENSG00000148123:ENST00000456287:exon3:c.C240T:p.T80T Score=573;Name=lod=284 NA 9q31.1 Score=869;Name=V$NF1_Q6 NA Name=2 NA rs7847596 0.02 0.02 0.013 0.0171725 0.0417 0.001 0.0187 0.003 0.0266 0.05 0.0017 0.02 0.01 0.0371 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.983248 NA NA 0.039767 0.007263 NA 0.007 NA 8.5480996 797 5 78573790 78573790 A T exonic JMY NA nonsynonymous SNV JMY:NM_152405:exon2:c.A1090T:p.M364L exonic ENSG00000152409 NA nonsynonymous SNV ENSG00000152409:ENST00000396137:exon2:c.A1090T:p.M364L Score=697;Name=lod=908 NA 5q14.1 NA NA NA NA rs13182512 0.52 0.52 0.516 0.480631 0.6243 0.4851 0.5562 0.3646 0.4315 0.63 0.46 0.53 0.42 0.5465 0.63 0.25 T 0.001 B 0.002 B 0.007 N 0.910 P 1.1 L 3.23 T -0.966 T 0.000 T 0.058 -0.022 3.901 -4.71 -0.624 1.365 5.503 -0.022008 NA 0.33 0.616513 0.401199 NA 0.565 NA 8.5460204 797 1 34663208 34663208 C G exonic C1orf94 NA nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C703G:p.Q235E,C1orf94:NM_032884:exon2:c.C133G:p.Q45E exonic ENSG00000142698 NA nonsynonymous SNV ENSG00000142698:ENST00000373374:exon2:c.C133G:p.Q45E,ENSG00000142698:ENST00000488417:exon2:c.C703G:p.Q235E NA NA 1p34.3 NA NA NA NA rs1382602 0.34 0.34 0.388 0.379992 0.2376 0.1409 0.3617 0.7632 0.2679 0.23 0.13 0.35 0.77 0.2847 0.77 1 T 0.0 B 0.0 B 0.022 N 1.000 P -1.845 N 2.27 T -0.986 T 0.000 T 0.038 -2.344 0.004 3.09 0.516 1.778 4.606 -2.343661 NA 1 0.265581 0.666818 NA 0.399 NA 8.5454524 798 10 124214355 124214355 C T exonic ARMS2 NA stopgain ARMS2:NM_001099667:exon1:c.C112T:p.R38X exonic ENSG00000254636 NA stopgain ENSG00000254636:ENST00000528446:exon1:c.C112T:p.R38X NA NA 10q26.13 NA NA NA NA rs2736911 0.13 0.13 0.135 0.114417 0.173 0.1905 0.0908 0.056 0.0716 0.16 0.18 0.09 0.07 0.1309 0.18 1 T . . . . . . 0.000 P . . . . . . . . . 1.915 12.36 -2.21 -0.730 -0.426 0.528 1.91483 1.91483 NA 0.151847 0.070936 NA 0.08 NA 8.544253 798 2 220348751 220348751 C T exonic SPEG NA nonsynonymous SNV SPEG:NM_005876:exon30:c.C6566T:p.P2189L exonic ENSG00000072195 NA nonsynonymous SNV ENSG00000072195:ENST00000312358:exon30:c.C6566T:p.P2189L NA NA 2q35 NA Name=CTCF NA NA rs10755037 0.24 0.24 0.226 0.285543 0.2694 0.1448 0.2738 0.289 0.4509 0.27 0.16 0.3 0.26 0.2739 0.3 0.08 T 0.0 B 0.0 B 0.167 N 1.000 P 0.55 N -0.13 T -1.039 T 0.000 T 0.033 -1.75 0.01 1.85 0.351 2.969 10.706 -1.750379 NA 0.01 0.246361 0.259942 ID=COSM442355;OCCURENCE=2(breast) 0.152 NA 8.5436724 798 12 10339178 10339178 C T exonic TMEM52B NA synonymous SNV TMEM52B:NM_153022:exon3:c.C237T:p.S79S exonic ENSG00000165685 NA synonymous SNV ENSG00000165685:ENST00000298530:exon3:c.C237T:p.S79S,ENSG00000165685:ENST00000536952:exon4:c.C297T:p.S99S,ENSG00000165685:ENST00000381923:exon5:c.C297T:p.S99S Score=448;Name=lod=88 NA 12p13.2 Score=902;Name=V$OCT1_06 NA Name=5 NA rs4764308 0.02 0.02 0.016 0.0133786 0.0477 NA 0.013 0.0023 0.0072 0.05 NA 0.02 0.002 0.0304 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991234 NA NA 0.045581 0.009986 NA 0.014 NA 8.5429856 798 2 218674697 218674697 C T exonic TNS1 NA nonsynonymous SNV TNS1:NM_022648:exon30:c.G4810A:p.V1604I exonic ENSG00000079308 NA nonsynonymous SNV ENSG00000079308:ENST00000446688:exon12:c.G2224A:p.V742I,ENSG00000079308:ENST00000430930:exon27:c.G4747A:p.V1583I,ENSG00000079308:ENST00000419504:exon28:c.G4768A:p.V1590I,ENSG00000079308:ENST00000171887:exon30:c.G4810A:p.V1604I Score=576;Name=lod=291 NA 2q35 NA NA NA NA rs918949 0.62 0.62 0.629 0.610224 0.5865 0.505 0.5922 0.8071 0.4898 0.6 0.5 0.62 0.79 0.5949 0.79 0.62 T 0.0 B 0.003 B 0.029 N 0.000 P -1.69 N 0.97 T -0.934 T 0.000 T 0.085 -0.728 0.884 -4.71 -1.539 0.655 15.396 -0.727836 NA 0.84 0.610581 0.768498 NA 0.659 NA 8.5413524 798 18 8720368 8720368 C T exonic SOGA2 NA synonymous SNV SOGA2:NM_015210:exon4:c.C231T:p.H77H exonic ENSG00000168502 NA synonymous SNV ENSG00000168502:ENST00000306329:exon3:c.C1311T:p.H437H,ENSG00000168502:ENST00000517570:exon3:c.C231T:p.H77H,ENSG00000168502:ENST00000359865:exon4:c.C231T:p.H77H,ENSG00000168502:ENST00000400050:exon4:c.C231T:p.H77H Score=610;Name=lod=401 NA 18p11.22 Score=871;Name=V$HLF_01 NA Name=2 NA rs73939505 0.05 0.05 0.047 0.0607029 0.0358 0.0308 0.0303 0.1112 0.0706 0.04 0.03 0.04 0.1 0.0508 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791448 NA NA 0.039302 0.099183 NA 0.036 NA 8.5407646 798 19 44890801 44890801 T C exonic ZNF285 NA nonsynonymous SNV ZNF285:NM_152354:exon4:c.A1606G:p.R536G exonic ENSG00000267508 NA nonsynonymous SNV ENSG00000267508:ENST00000330997:exon4:c.A1606G:p.R536G,ENSG00000267508:ENST00000544719:exon4:c.A1606G:p.R536G,ENSG00000267508:ENST00000591679:exon5:c.A1627G:p.R543G Score=381;Name=lod=47 NA 19q13.31 NA NA NA NA rs12610859 0.44 0.44 0.401 0.432907 0.6382 0.1845 0.464 0.379 0.5286 0.65 0.18 0.49 0.38 0.5381 0.65 1 T 0.0 B 0.0 B . . 0.000 P -1.77 N 2.77 T -0.960 T 0.000 T 0.125 -0.12 3.413 3.6 0.643 1.725 10.394 -0.11975 NA 1 0.616279 0.425783 NA 0.507 NA 8.5407544 798 4 8242499 8242499 G A exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon18:c.G3828A:p.Q1276Q exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon18:c.G3828A:p.Q1276Q,ENSG00000125089:ENST00000539824:exon18:c.G3600A:p.Q1200Q Score=550;Name=lod=230 NA 4p16.1 NA Name=c-Myc,Max Name=5 NA rs1048506 0.02 0.02 0.018 0.0233626 0.0378 NA 0.0216 0.0008 0.0644 0.04 NA 0.03 0.002 0.039 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.397793 1.397793 NA 0.05093 0.012029 NA 0.072 NA 8.5389366 798 1 156011444 156011444 T C exonic UBQLN4 NA nonsynonymous SNV UBQLN4:NM_020131:exon10:c.A1485G:p.I495M exonic ENSG00000160803 NA nonsynonymous SNV ENSG00000160803:ENST00000368307:exon6:c.A442G:p.I148V,ENSG00000160803:ENST00000368309:exon10:c.A1485G:p.I495M Score=475;Name=lod=114 NA 1q22 Score=946;Name=V$IK2_01 NA NA NA rs2297792 0.42 0.42 0.422 0.433107 0.6014 0.1438 0.5461 0.3782 0.5521 0.59 0.13 0.51 0.42 0.5802 0.61 0.28 T 0.019 B 0.004 B 0.070 N 1.000 P 0.345 N 0.53 T -1.026 T 0.021 T 0.034 1.342 10.41 2.56 0.568 0.417 4.360 1.342255 1.342255 0.62 0.613398 0.436107 NA 0.471 NA 8.5383354 798 11 4869906 4869906 A C exonic OR51S1 NA nonsynonymous SNV OR51S1:NM_001004758:exon1:c.T533G:p.L178R exonic ENSG00000176922 NA nonsynonymous SNV ENSG00000176922:ENST00000322101:exon1:c.T533G:p.L178R NA NA 11p15.4 NA NA NA NA rs7117260 0.44 0.44 0.45 0.501797 0.6054 0.0942 0.4135 0.6233 0.7137 0.58 0.08 0.48 0.61 0.5654 0.63 1 T 0.0 B 0.0 B 0.795 N 0.999 P -1.855 N 1.23 T -0.956 T 0.000 T 0.021 -1.965 0.007 -8.88 -2.327 -5.132 11.681 -1.965406 NA 1 0.626338 0.598137 NA 0.529 NA 8.5361954 798 22 42538029 42538029 A G ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN NA NA 22q13.2 Score=818;Name=V$PPARG_03 NA NA NA rs1058167 0.59 0.59 0.532 0.553315 0.661 0.8482 0.6455 0.1331 0.6411 0.67 0.83 0.67 0.13 0.6363 0.83 . . 0.995 D 0.967 D 0.010 N 0.997 P . . . . -1.000 T 0.000 T . 0.038 4.21 1.26 0.570 2.586 3.669 0.037841 NA 0.02 NA NA NA 0.471 NA 8.5360333 798 15 40265799 40265799 A G exonic EIF2AK4 NA nonsynonymous SNV EIF2AK4:NM_001013703:exon11:c.A1667G:p.E556G exonic ENSG00000128829 NA nonsynonymous SNV ENSG00000128829:ENST00000263791:exon11:c.A1667G:p.E556G,ENSG00000128829:ENST00000382727:exon11:c.A1667G:p.E556G,ENSG00000128829:ENST00000559624:exon11:c.A1667G:p.E556G Score=422;Name=lod=69 NA 15q15.1 NA NA NA NA rs2307105 0.86 0.86 0.877 0.844449 0.9463 0.7788 0.6988 0.8971 0.8395 0.95 0.77 0.77 0.9 0.8883 0.96 0.64 T 0.0 B 0.0 B 0.003 N 0.000 P -1.61 N -0.45 T -0.963 T 0.000 T 0.249 2.05 12.81 4.97 1.535 1.363 9.406 2.049686 2.049686 0.63 0.96312 0.898376 NA 0.877 NA 8.5356134 799 17 7849087 7849087 C G exonic CNTROB NA synonymous SNV CNTROB:NM_001037144:exon13:c.C1776G:p.P592P,CNTROB:NM_053051:exon13:c.C1776G:p.P592P exonic ENSG00000170037 NA nonsynonymous SNV ENSG00000170037:ENST00000380255:exon12:c.C1613G:p.P538R NA NA 17p13.1 NA NA NA NA rs4462665 0.58 0.58 0.553 0.63099 0.4493 0.8016 0.67 0.5424 0.7342 0.46 0.74 0.61 0.56 0.5562 0.74 0.32 T . . . . 0.213 N 0.285 P . . 0.87 T -1.049 T 0.000 T . -1.016 0.238 -5.31 -1.742 -1.603 7.964 -1.015843 NA 0 0.459651 0.554471 ID=COSM1387480;OCCURENCE=1(large_intestine) 0.536 NA 8.534849 799 6 152473181 152473181 T C exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon133:c.A24012G:p.A8004A,SYNE1:NM_182961:exon134:c.A24225G:p.A8075A exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000354674:exon5:c.A690G:p.A230A,ENSG00000131018:ENST00000539504:exon5:c.A690G:p.A230A,ENSG00000131018:ENST00000367257:exon14:c.A2163G:p.A721A,ENSG00000131018:ENST00000367251:exon19:c.A2991G:p.A997A,ENSG00000131018:ENST00000356820:exon49:c.A7797G:p.A2599A,ENSG00000131018:ENST00000423061:exon133:c.A24012G:p.A8004A,ENSG00000131018:ENST00000265368:exon134:c.A24225G:p.A8075A,ENSG00000131018:ENST00000367255:exon134:c.A24225G:p.A8075A,ENSG00000131018:ENST00000448038:exon134:c.A24012G:p.A8004A,ENSG00000131018:ENST00000341594:exon135:c.A23061G:p.A7687A NA NA 6q25.1 NA Name=GATA-2 Name=19 NA rs910415 0.04 0.04 0.039 0.0365415 0.0487 0.001 0.0476 0.0628 0.0174 0.04 NA 0.06 0.07 0.0397 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.115338 NA NA 0.04407 0.060145 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118465.2;CLNDSDB=.;CLNDSDBID=. 8.5341966 799 6 32811645 32811645 A G exonic PSMB8 NA synonymous SNV PSMB8:NM_148919:exon1:c.T129C:p.A43A exonic ENSG00000204264 NA synonymous SNV ENSG00000204264:ENST00000374882:exon1:c.T129C:p.A43A,ENSG00000204264:ENST00000395339:exon1:c.T129C:p.A43A Score=454;Name=lod=93 NA 6p21.32 Score=854;Name=V$OLF1_01 Name=RFX5_(N-494),Pol2,Pol2-4H8 NA NA rs2071542 0.05 0.05 0.055 0.0545128 0.0417 0.0625 0.0605 0.0408 0.0736 0.05 0.07 0.07 0.04 0.0538 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.600489 1.600489 NA 0.037112 0.035785 NA 0.065 NA 8.5340546 799 5 141335498 141335498 C T exonic PCDH12 NA nonsynonymous SNV PCDH12:NM_016580:exon1:c.G1919A:p.S640N exonic ENSG00000113555 NA nonsynonymous SNV ENSG00000113555:ENST00000231484:exon1:c.G1919A:p.S640N NA NA 5q31.3 NA NA NA NA rs164515 0.17 0.17 0.14 0.14996 0.2664 0.127 0.196 0.0227 0.1933 0.27 0.12 0.22 0.03 0.2367 0.3 0.26 T 0.0 B 0.002 B 0.316 N 1.000 P 1.32 L -1.7 D -1.097 T 0.000 T 0.004 -1.565 0.015 2.7 0.424 0.609 4.911 -1.564822 NA 0.46 0.298488 0.070586 NA 0.159 NA 8.5317454 799 1 39797055 39797055 A G intronic MACF1 NA NA NA exonic ENSG00000127603 NA nonsynonymous SNV ENSG00000127603:ENST00000289893:exon1:c.A115G:p.I39V,ENSG00000127603:ENST00000372915:exon36:c.A4810G:p.I1604V,ENSG00000127603:ENST00000564288:exon37:c.A4795G:p.I1599V,ENSG00000127603:ENST00000567887:exon37:c.A4906G:p.I1636V NA NA 1p34.3 NA NA Name=6 NA rs16826069 0.18 0.18 0.141 0.159944 0.1978 0.2629 0.2507 0.0129 0.1493 0.2 0.26 0.24 0.02 0.2123 0.26 0.18 T 0.0 B 0.0 B 0.551 N 0.000 P 0 N -0.68 T -1.090 T 0.000 T 0.058 -0.18 3.123 -7.75 -1.757 -0.110 4.575 -0.180089 NA NA 0.226163 0.0463 NA 0.152 NA 8.5304037 799 1 32092525 32092525 A G exonic HCRTR1 NA nonsynonymous SNV HCRTR1:NM_001525:exon9:c.A1222G:p.I408V exonic ENSG00000121764 NA nonsynonymous SNV ENSG00000121764:ENST00000373706:exon7:c.A1222G:p.I408V,ENSG00000121764:ENST00000403528:exon9:c.A1222G:p.I408V Score=631;Name=lod=489 NA 1p35.2 NA NA NA NA rs2271933 0.43 0.43 0.405 0.439696 0.6332 0.244 0.5086 0.2753 0.6155 0.62 0.26 0.53 0.26 0.5567 0.62 1 T 0.0 B 0.001 B 0.001 N 0.000 P -0.345 N 0.31 T -0.925 T 0.000 T 0.111 -0.715 0.922 3.78 0.690 1.595 8.216 -0.715416 NA 1 0.61407 0.309578 ID=COSM1341730;OCCURENCE=1(large_intestine) 0.558 NA 8.5293634 799 20 42320881 42320881 C T exonic MYBL2 NA synonymous SNV MYBL2:NM_002466:exon6:c.C585T:p.D195D exonic ENSG00000101057 NA synonymous SNV ENSG00000101057:ENST00000396863:exon5:c.C513T:p.D171D,ENSG00000101057:ENST00000217026:exon6:c.C585T:p.D195D Score=389;Name=lod=51 NA 20q13.12 NA Name=CTCF,Rad21,YY1_(C-20),SMC3_(ab9263),Znf143_(16618-1-AP),CTCF_(SC-5916) Name=107 NA rs2229036 0.06 0.06 0.05 0.0505192 0.0447 0.0754 0.0375 0.0295 0.0685 0.05 0.09 0.03 0.05 0.0472 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553635 NA NA 0.04593 0.029959 NA 0.014 NA 8.5288366 799 11 72040784 72040784 T C exonic CLPB NA synonymous SNV CLPB:NM_001258393:exon5:c.A753G:p.E251E,CLPB:NM_001258392:exon6:c.A840G:p.E280E,CLPB:NM_030813:exon7:c.A930G:p.E310E,CLPB:NM_001258394:exon8:c.A795G:p.E265E exonic ENSG00000162129 NA synonymous SNV ENSG00000162129:ENST00000340729:exon5:c.A753G:p.E251E,ENSG00000162129:ENST00000543042:exon5:c.A327G:p.E109E,ENSG00000162129:ENST00000544683:exon5:c.A402G:p.E134E,ENSG00000162129:ENST00000535477:exon6:c.A840G:p.E280E,ENSG00000162129:ENST00000538039:exon6:c.A840G:p.E280E,ENSG00000162129:ENST00000294053:exon7:c.A930G:p.E310E,ENSG00000162129:ENST00000437826:exon8:c.A795G:p.E265E,ENSG00000162129:ENST00000535990:exon8:c.A945G:p.E315E Score=505;Name=lod=150 NA 11q13.4 NA NA NA NA rs36049191 0.12 0.12 0.126 0.135383 0.0398 0.1577 0.0937 0.27 0.0583 0.04 0.14 0.1 0.24 0.0673 0.24 . . . . . . . . 0.000 P . . . . -1.061 T 0.000 T . -0.657 1.116 2.39 0.195 0.048 8.406 -0.656719 NA NA 0.030864 0.214773 NA 0.145 NA 8.5287026 799 1 89237556 89237556 C T exonic PKN2 NA synonymous SNV PKN2:NM_006256:exon6:c.C979T:p.L327L exonic ENSG00000065243 NA synonymous SNV ENSG00000065243:ENST00000370505:exon5:c.C508T:p.L170L,ENSG00000065243:ENST00000316005:exon6:c.C979T:p.L327L,ENSG00000065243:ENST00000370513:exon6:c.C979T:p.L327L,ENSG00000065243:ENST00000370521:exon6:c.C979T:p.L327L Score=725;Name=lod=1176 NA 1p22.2 NA NA NA NA rs9651072 0.11 0.11 0.127 0.132987 0.0447 0.0337 0.049 0.3593 0.0798 0.05 0.04 0.05 0.34 0.0672 0.34 . . . . . . . . 0.000 P . . . . -1.067 T 0.077 T . 0.672 7.597 1.36 0.051 1.406 9.095 0.672052 NA NA 0.026488 0.28095 NA 0.188 NA 8.5282786 799 19 44303066 44303066 C G exonic LYPD5 NA nonsynonymous SNV LYPD5:NM_001031749:exon3:c.G268C:p.A90P,LYPD5:NM_182573:exon3:c.G139C:p.A47P exonic ENSG00000159871 NA nonsynonymous SNV ENSG00000159871:ENST00000594013:exon2:c.G139C:p.A47P,ENSG00000159871:ENST00000377950:exon3:c.G268C:p.A90P,ENSG00000159871:ENST00000414615:exon3:c.G139C:p.A47P,ENSG00000159871:ENST00000594049:exon3:c.G139C:p.A47P,ENSG00000159871:ENST00000602179:exon3:c.G139C:p.A47P NA NA 19q13.31 NA Name=Egr-1,Pol2-4H8,ZNF263,JunD,IRF1,Pol2,ELF1_(SC-631),FOSL1_(SC-183) Name=53 NA rs11547806 0.57 0.57 0.562 0.621406 0.5765 0.5437 0.634 0.5772 0.7986 0.56 0.53 0.66 0.56 0.6451 0.66 0.45 T 0.004 B 0.001 B 0.047 N 1.000 P 0 N 3.22 T -0.902 T 0.000 T 0.022 1.17 9.759 -4.2 -0.792 -0.157 2.752 1.169584 NA 0.3 0.584807 0.59473 ID=COSM1129805;OCCURENCE=1(prostate) 0.609 NA 8.5269264 799 14 102815042 102815042 C T exonic CINP NA nonsynonymous SNV CINP:NM_001177611:exon5:c.G536A:p.R179H,CINP:NM_032630:exon5:c.G491A:p.R164H exonic ENSG00000100865 NA nonsynonymous SNV ENSG00000100865:ENST00000216756:exon5:c.G491A:p.R164H,ENSG00000100865:ENST00000536961:exon5:c.G536A:p.R179H,ENSG00000100865:ENST00000559514:exon5:c.G491A:p.R164H Score=432;Name=lod=76 NA 14q32.31 NA NA NA NA rs7011 0.16 0.16 0.173 0.164936 0.2654 0.1081 0.1643 0.0756 0.2413 0.26 0.09 0.17 0.08 0.244 0.3 0.27 T 0.054 B 0.004 B 0.010 N 0.000 P 1.6 L 0.67 T -1.017 T 0.000 T 0.244 1.44 10.76 2.76 0.644 0.621 9.449 1.440241 1.440241 0.25 0.298837 0.104857 NA 0.181 NA 8.5250964 799 19 56424443 56424443 T C exonic NLRP13 NA nonsynonymous SNV NLRP13:NM_176810:exon5:c.A740G:p.Q247R exonic ENSG00000173572 NA nonsynonymous SNV ENSG00000173572:ENST00000342929:exon5:c.A740G:p.Q247R,ENSG00000173572:ENST00000588751:exon5:c.A740G:p.Q247R NA NA 19q13.43 NA NA NA NA rs303997 0.64 0.64 0.639 0.664736 0.5924 0.7302 0.5101 0.7405 0.6789 0.58 0.71 0.54 0.73 0.6065 0.73 0.17 T 0.13 B 0.088 B . . 1.000 P -0.04 N -1.05 T -0.941 T 0.000 T 0.08 1.785 11.93 2.81 1.271 4.167 7.721 1.785132 1.785132 0.07 0.609419 0.713799 ID=COSM1396740;OCCURENCE=1(large_intestine) 0.746 NA 8.5250144 800 15 93588289 93588289 G A exonic RGMA NA nonsynonymous SNV RGMA:NM_001166286:exon3:c.C1244T:p.A415V,RGMA:NM_001166283:exon4:c.C1316T:p.A439V,RGMA:NM_001166287:exon4:c.C1244T:p.A415V,RGMA:NM_001166288:exon4:c.C1244T:p.A415V,RGMA:NM_001166289:exon4:c.C1244T:p.A415V,RGMA:NM_020211:exon4:c.C1292T:p.A431V exonic ENSG00000182175 NA nonsynonymous SNV ENSG00000182175:ENST00000542321:exon3:c.C1244T:p.A415V,ENSG00000182175:ENST00000329082:exon4:c.C1292T:p.A431V,ENSG00000182175:ENST00000425933:exon4:c.C1244T:p.A415V,ENSG00000182175:ENST00000543599:exon4:c.C1244T:p.A415V,ENSG00000182175:ENST00000557301:exon4:c.C1316T:p.A439V,ENSG00000182175:ENST00000538818:exon5:c.C965T:p.A322V,ENSG00000182175:ENST00000556658:exon5:c.C965T:p.A322V NA NA 15q26.1 NA NA NA NA rs4778078 0.23 0.23 0.214 0.260583 0.2624 0.1835 0.3069 0.233 0.3425 0.26 0.17 0.29 0.21 0.3171 0.29 0.05 D 0.001 B 0.001 B 0.442 U 0.937 P 1.1 L -2.44 D -1.042 T 0.000 T 0.097 2.388 13.94 0.123 0.075 0.076 8.947 2.387976 2.387976 0.1 0.231033 0.210084 NA 0.261 NA 8.5228004 800 14 55907172 55907172 C G exonic TBPL2 NA nonsynonymous SNV TBPL2:NM_199047:exon1:c.G92C:p.R31P exonic ENSG00000182521 NA nonsynonymous SNV ENSG00000182521:ENST00000247219:exon1:c.G92C:p.R31P NA NA 14q22.3 NA Name=YY1_(C-20),TAF1,USF2,CTCF,TBP NA NA rs8019270 0.68 0.68 0.671 0.684704 0.5984 0.6349 0.7291 0.8079 0.6268 0.6 0.64 0.75 0.79 0.6334 0.79 0.18 T 0.0 B 0.0 B 0.683 N 1.000 P 0 N 0.9 T -0.987 T 0.000 T 0.01 0.346 5.876 -3.98 -1.351 -0.407 6.045 0.345715 NA 0.18 0.579348 0.776267 ID=COSM433153;OCCURENCE=2(breast) 0.645 NA 8.5221854 800 3 111985107 111985107 T C exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon8:c.A856G:p.I286V exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000471295:exon6:c.A694G:p.I232V,ENSG00000172139:ENST00000305815:exon8:c.A856G:p.I286V,ENSG00000172139:ENST00000487372:exon8:c.A856G:p.I286V Score=448;Name=lod=88 NA 3q13.2 NA NA NA NA rs9872691 0.31 0.31 0.281 0.329073 0.2376 0.3393 0.4035 0.3449 0.3384 0.24 0.32 0.38 0.35 0.3035 0.38 0.71 T 0.001 B 0.002 B 0.257 N 1.000 P -0.9 N 3.95 T -0.970 T 0.000 T 0.01 -1.855 0.009 3.23 0.647 0.291 7.857 -1.855283 NA 1 0.270484 0.336586 NA 0.275 NA 8.5217494 800 4 76489582 76489582 G A exonic C4orf26 NA nonsynonymous SNV C4orf26:NM_178497:exon2:c.G326A:p.R109H,C4orf26:NM_001206981:exon3:c.G370A:p.V124I exonic ENSG00000174792 NA nonsynonymous SNV ENSG00000174792:ENST00000311623:exon2:c.G326A:p.R109H,ENSG00000174792:ENST00000435974:exon3:c.G370A:p.V124I NA NA 4q21.1 NA NA NA NA rs2306174 0.13 0.13 0.143 0.152356 0.0915 0.1865 0.0677 0.1672 0.2198 0.09 0.19 0.08 0.18 0.1197 0.22 . . 0.929 P 0.28 B 0.005 N 1.000 P 0.55 N 1.4 T -1.045 T 0.000 T . 0.937 8.818 -4.61 -0.823 -0.293 0.509 0.936783 NA 0.18 0.100814 0.13527 NA 0.167 NA 8.5213194 800 18 30804758 30804758 A C exonic CCDC178 NA nonsynonymous SNV CCDC178:NM_001105528:exon16:c.T1799G:p.L600R,CCDC178:NM_198995:exon17:c.T1799G:p.L600R exonic ENSG00000166960 NA nonsynonymous SNV ENSG00000166960:ENST00000581524:exon4:c.T440G:p.L147R,ENSG00000166960:ENST00000402325:exon15:c.T1799G:p.L600R,ENSG00000166960:ENST00000406524:exon15:c.T1799G:p.L600R,ENSG00000166960:ENST00000403303:exon16:c.T1799G:p.L600R,ENSG00000166960:ENST00000583930:exon16:c.T1799G:p.L600R,ENSG00000166960:ENST00000300227:exon17:c.T1799G:p.L600R,ENSG00000166960:ENST00000383096:exon17:c.T1799G:p.L600R,ENSG00000166960:ENST00000579947:exon17:c.T1799G:p.L600R NA NA 18q12.1 NA NA NA NA rs457896 0.16 0.16 0.16 0.164337 0.1093 0.1121 0.1023 0.3517 0.0654 0.1 0.12 0.1 0.33 0.1083 0.33 0.38 T 0.799 P 0.295 B . . 1.000 P 1.245 L 2.25 T -0.965 T 0.000 T 0.177 0.16 4.86 -3.98 -0.699 0.025 7.184 0.159803 NA 0 0.096279 0.288828 ID=COSM1388465,COSM1388466;OCCURENCE=1(large_intestine) NA NA 8.5194544 800 11 7817856 7817856 C T exonic OR5P2 NA nonsynonymous SNV OR5P2:NM_153444:exon1:c.G634A:p.V212I exonic ENSG00000183303 NA nonsynonymous SNV ENSG00000183303:ENST00000329434:exon1:c.G634A:p.V212I NA NA 11p15.4 NA NA NA NA rs78460198 0.27 0.27 0.256 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 0.2552 0.37 1 T 0.008 B 0.021 B 0.602 N 1.000 P 0.08 N 1.21 T -0.974 T 0.000 T 0.012 -2.12 0.005 -11.0 -3.387 -6.285 20.776 -2.11952 NA 1 0.282502 0.325653 ID=COSM179925;OCCURENCE=1(large_intestine),1(central_nervous_system) 0.254 NA 8.5193314 800 19 59082605 59082605 C T exonic MZF1 NA nonsynonymous SNV MZF1:NM_001267033:exon2:c.G152A:p.R51H,MZF1:NM_003422:exon2:c.G152A:p.R51H,MZF1:NM_198055:exon2:c.G152A:p.R51H exonic ENSG00000099326 NA nonsynonymous SNV ENSG00000099326:ENST00000215057:exon2:c.G152A:p.R51H,ENSG00000099326:ENST00000594108:exon2:c.G152A:p.R51H,ENSG00000099326:ENST00000594234:exon2:c.G152A:p.R51H,ENSG00000099326:ENST00000599369:exon2:c.G152A:p.R51H,ENSG00000099326:ENST00000596039:exon3:c.G152A:p.R51H NA NA 19q13.43 NA NA Name=3 NA rs3752109 0.23 0.23 0.208 0.207069 0.2744 0.2996 0.2378 0.0688 0.2076 0.29 0.3 0.24 0.08 0.2572 0.3 . . 0.002 B 0.002 B 0.996 N 1.000 P 1.37 L 3.65 T -0.921 T 0.000 T 0.075 1.044 9.266 -1.86 -0.298 -2.046 7.716 1.044385 NA 0.15 0.282856 0.093282 NA 0.188 NA 8.5188774 800 5 13788886 13788886 C A exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon51:c.G8586T:p.L2862F exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon51:c.G8586T:p.L2862F Score=401;Name=lod=57 NA 5p15.2 NA NA NA NA rs10513155 0.22 0.22 0.199 0.208666 0.2744 0.2173 0.2608 0.1256 0.2076 0.27 0.21 0.22 0.16 0.2524 0.29 0.44 T 0.0 B 0.003 B 0.442 N 0.960 P 0.895 L 1.78 T -0.946 T 0.000 T 0.024 0.4 6.173 4.02 0.745 -0.096 5.576 0.400141 NA 0.64 0.288605 0.163187 NA 0.239 NA 8.5179284 800 19 36048741 36048741 G T exonic ATP4A NA synonymous SNV ATP4A:NM_000704:exon11:c.C1509A:p.I503I exonic ENSG00000105675 NA synonymous SNV ENSG00000105675:ENST00000262623:exon11:c.C1509A:p.I503I Score=435;Name=lod=78 NA 19q13.12 Score=772;Name=V$PAX5_02 Name=ZBTB7A_(SC-34508),CTCF,Rad21,CTCFL_(SC-98982),E2F6_(H-50) Name=99 NA rs2230181 0.29 0.29 0.295 0.280751 0.4105 0.2659 0.2277 0.174 0.3446 0.41 0.26 0.27 0.17 0.3894 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.513504 1.513504 NA 0.349513 0.17803 NA 0.232 NA 8.5172536 800 2 112686988 112686988 G A exonic MERTK NA nonsynonymous SNV MERTK:NM_006343:exon2:c.G353A:p.S118N exonic ENSG00000153208 NA nonsynonymous SNV ENSG00000153208:ENST00000295408:exon2:c.G353A:p.S118N,ENSG00000153208:ENST00000421804:exon2:c.G353A:p.S118N NA NA 2q13 NA NA NA NA rs13027171 0.16 0.16 0.15 0.168131 0.2853 0.1726 0.1844 0.0219 0.229 0.25 0.12 0.22 0.02 0.2313 0.3 0.41 T 0.001 B 0.001 B 0.620 N 0.557 P -0.205 N -0.34 T -1.025 T 0.000 T 0.003 -0.574 1.417 -3.98 -0.649 -0.287 11.622 -0.574024 NA 0.59 0.299884 0.069678 NA 0.181 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081390.1;CLNDSDB=.;CLNDSDBID=. 8.5168494 800 3 148904434 148904434 T G exonic CP NA synonymous SNV CP:NM_000096:exon11:c.A1950C:p.G650G exonic ENSG00000047457 NA synonymous SNV ENSG00000047457:ENST00000494544:exon8:c.A1299C:p.G433G,ENSG00000047457:ENST00000264613:exon11:c.A1950C:p.G650G Score=472;Name=lod=111 NA 3q25.1 NA Name=eGFP-GATA2 NA NA rs1053709 0.02 0.02 0.02 0.0195687 0.0457 0.001 0.036 0.0008 0.0256 0.04 0.0017 0.04 0.0041 0.0439 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.405346 1.405346 NA 0.060465 0.013391 NA 0.065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116817.1;CLNDSDB=.;CLNDSDBID=. 8.5166016 800 22 50682865 50682865 G A exonic TUBGCP6 NA synonymous SNV TUBGCP6:NM_020461:exon1:c.C24T:p.F8F exonic ENSG00000128159 NA synonymous SNV ENSG00000128159:ENST00000248846:exon1:c.C24T:p.F8F,ENSG00000128159:ENST00000439308:exon1:c.C24T:p.F8F Score=526;Name=lod=183 NA 22q13.33 Score=889;Name=V$E47_02 Name=NF-YA,GABP,ELF1_(SC-631),ZEB1_(SC-25388),NFKB Name=133 NA rs5771270 0.29 0.29 0.277 0.28155 0.4026 0.3562 0.2478 0.0802 0.3763 0.39 0.34 0.23 0.13 0.36 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.876131 1.876131 NA 0.388837 0.140263 ID=COSM445163;OCCURENCE=1(breast) 0.261 NA 8.5152296 801 1 200880869 200880869 A C exonic C1orf106 NA nonsynonymous SNV C1orf106:NM_001142569:exon9:c.A1248C:p.R416S,C1orf106:NM_018265:exon9:c.A1545C:p.R515S exonic ENSG00000163362 NA nonsynonymous SNV ENSG00000163362:ENST00000367342:exon9:c.A1503C:p.R501S,ENSG00000163362:ENST00000413687:exon9:c.A1248C:p.R416S NA NA 1q32.1 NA NA NA NA rs45547233 0.08 0.08 0.053 0.0595048 0.1054 0.1091 0.0461 0.0091 0.0389 0.11 0.11 0.05 0.01 0.0984 0.12 0.74 T 0.608 P 0.143 B 0.435 N 0.963 P 0.55 N 1.5 T -1.082 T 0.001 T 0.217 0.727 7.865 -2.97 -0.319 0.652 4.172 0.72699 NA 0.33 0.115223 0.025658 ID=COSM1337743;OCCURENCE=1(large_intestine) 0.022 NA 8.5143104 801 19 10475652 10475652 C A exonic TYK2 NA nonsynonymous SNV TYK2:NM_003331:exon8:c.G1084T:p.V362F exonic ENSG00000105397 NA nonsynonymous SNV ENSG00000105397:ENST00000524462:exon4:c.G529T:p.V177F,ENSG00000105397:ENST00000264818:exon6:c.G1084T:p.V362F,ENSG00000105397:ENST00000525621:exon8:c.G1084T:p.V362F,ENSG00000105397:ENST00000529370:exon8:c.G1084T:p.V362F NA Name=Type 1 diabetes autoantibodies,Type 1 diabetes 19p13.2 NA NA NA NA rs2304256 0.29 0.29 0.273 0.265775 0.2624 0.5238 0.1945 0.0893 0.2924 0.28 0.47 0.23 0.12 0.2768 0.47 0.05 D 0.421 B 0.097 B 0.584 N 1.000 P 0.895 L 2.93 T -0.915 T 0.000 T 0.186 1.261 10.11 -0.832 -0.107 -0.040 6.246 1.260535 1.260535 0.32 0.280349 0.115751 NA 0.116 NA 8.5137844 801 19 6901891 6901891 G A exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256252:exon5:c.G364A:p.D122N,EMR1:NM_001256253:exon6:c.G520A:p.D174N,EMR1:NM_001974:exon6:c.G520A:p.D174N exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000595026:exon4:c.G418A:p.D140N,ENSG00000174837:ENST00000381404:exon5:c.G364A:p.D122N,ENSG00000174837:ENST00000250572:exon6:c.G520A:p.D174N,ENSG00000174837:ENST00000312053:exon6:c.G520A:p.D174N Score=321;Name=lod=27 NA 19p13.2 NA NA NA NA rs897738 0.42 0.42 0.43 0.433307 0.2396 0.4563 0.4193 0.6664 0.3037 0.24 0.5 0.38 0.65 0.3231 0.65 0.48 T 0.033 B 0.03 B . . 0.000 P 0.58 N -3.39 D -0.926 T 0.000 T 0.017 0.347 5.882 1.81 0.170 0.319 7.092 0.346823 NA 0.3 0.257093 0.58897 NA 0.399 NA 8.5135404 801 10 5204928 5204928 C T ncRNA_exonic AKR1CL1 NA NA NA exonic ENSG00000196326 NA nonsynonymous SNV ENSG00000196326:ENST00000334314:exon2:c.G149A:p.R50H,ENSG00000196326:ENST00000488756:exon2:c.G149A:p.R50H Score=235;Name=lod=12 NA 10p15.1 NA NA NA NA rs7097295 0.21 0.21 0.208 0.18151 0.3588 NA 0.183 0.2065 0.1513 0.35 NA 0.22 0.22 0.2742 0.35 0.05 D . . . . 0.006 N 1.000 P . . 1.62 T -0.972 T 0.000 T 0.234 1.872 12.22 1.36 0.074 1.750 5.760 1.871827 1.871827 0.07 0.353488 0.231049 NA 0.145 NA 8.513512 801 8 41583441 41583441 T C exonic ANK1 NA synonymous SNV ANK1:NM_000037:exon6:c.A450G:p.V150V,ANK1:NM_001142446:exon6:c.A549G:p.V183V,ANK1:NM_020475:exon6:c.A450G:p.V150V,ANK1:NM_020476:exon6:c.A450G:p.V150V,ANK1:NM_020477:exon6:c.A450G:p.V150V exonic ENSG00000029534 NA synonymous SNV ENSG00000029534:ENST00000265709:exon6:c.A549G:p.V183V,ENSG00000029534:ENST00000289734:exon6:c.A450G:p.V150V,ENSG00000029534:ENST00000347528:exon6:c.A450G:p.V150V,ENSG00000029534:ENST00000352337:exon6:c.A450G:p.V150V,ENSG00000029534:ENST00000379758:exon6:c.A450G:p.V150V,ENSG00000029534:ENST00000396942:exon6:c.A450G:p.V150V,ENSG00000029534:ENST00000396945:exon6:c.A450G:p.V150V Score=525;Name=lod=181 NA 8p11.21 Score=773;Name=V$MIF1_01 NA Name=3 NA rs6982971 0.03 0.03 0.026 0.024361 0.0537 0.001 0.0504 0.0182 0.0082 0.06 NA 0.04 0.02 0.0464 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088706 NA NA 0.053256 0.02315 NA 0.072 NA 8.5133106 801 14 20444588 20444588 T C exonic OR4K15 NA nonsynonymous SNV OR4K15:NM_001005486:exon1:c.T911C:p.L304P exonic ENSG00000169488 NA nonsynonymous SNV ENSG00000169488:ENST00000305051:exon1:c.T911C:p.L304P NA NA 14q11.2 NA NA NA NA rs2153466 0.32 0.32 0.334 0.376398 0.2435 0.1498 0.2017 0.7496 0.3661 0.25 0.14 0.19 0.72 0.2956 0.72 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 1.52 T -0.956 T 0.000 T 0.064 -1.65 0.012 3.99 0.895 4.153 9.600 -1.649809 NA 1 0.28186 0.690195 NA 0.413 NA 8.5123734 801 17 16325968 16325968 A G exonic TRPV2 NA synonymous SNV TRPV2:NM_016113:exon4:c.A390G:p.G130G exonic ENSG00000187688 NA synonymous SNV ENSG00000187688:ENST00000338560:exon4:c.A390G:p.G130G NA NA 17p11.2 NA NA NA NA rs8121 0.41 0.41 0.392 0.391374 0.3877 0.2321 0.3818 0.6475 0.2198 0.38 0.26 0.42 0.61 0.3766 0.61 . . . . . . . . 0.000 P . . . . -0.918 T 0.000 T . -0.785 0.717 -5.94 -1.326 -1.548 0.438 -0.784796 NA NA 0.391163 0.586927 ID=COSM148201;OCCURENCE=1(stomach) 0.442 NA 8.5112036 801 10 95163809 95163809 G T exonic MYOF NA synonymous SNV MYOF:NM_013451:exon9:c.C814A:p.R272R,MYOF:NM_133337:exon9:c.C814A:p.R272R exonic ENSG00000138119 NA synonymous SNV ENSG00000138119:ENST00000358334:exon9:c.C814A:p.R272R,ENSG00000138119:ENST00000359263:exon9:c.C814A:p.R272R,ENSG00000138119:ENST00000371489:exon9:c.C814A:p.R272R,ENSG00000138119:ENST00000371501:exon9:c.C814A:p.R272R,ENSG00000138119:ENST00000371502:exon9:c.C814A:p.R272R Score=588;Name=lod=326 NA 10q23.33 NA Name=ERalpha_a,c-Jun Name=47 NA rs12262721 0.1 0.1 0.115 0.0900559 0.0507 NA 0.0548 0.2663 0.0102 0.05 NA 0.07 0.31 0.055 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.216382 NA NA 0.051055 0.223134 NA 0.109 NA 8.5099116 801 16 2259393 2259393 C G exonic BRICD5 NA synonymous SNV BRICD5:NM_182563:exon6:c.G657C:p.V219V exonic ENSG00000182685 NA synonymous SNV ENSG00000182685:ENST00000562360:exon5:c.G753C:p.V251V,ENSG00000182685:ENST00000328540:exon6:c.G657C:p.V219V Score=317;Name=lod=26 NA 16p13.3 NA Name=TAL1_(SC-12984) Name=5 NA rs1129185 0.03 0.03 0.021 0.0213658 0.0487 NA 0.0504 0.0023 0.0204 0.05 NA 0.06 0.002 0.0452 0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691396 NA NA 0.063372 0.014331 NA 0.022 NA 8.5093946 801 1 12919081 12919081 C T exonic PRAMEF2 NA nonsynonymous SNV PRAMEF2:NM_023014:exon2:c.C217T:p.L73F exonic ENSG00000120952 NA nonsynonymous SNV ENSG00000120952:ENST00000240189:exon2:c.C217T:p.L73F NA NA 1p36.21 NA NA NA NA rs45443899 0.12 0.12 0.135 0.133586 0.1083 0.0159 0.1081 0.2821 0.0982 0.11 0.01 0.11 0.27 0.1069 0.27 0.09 T 0.991 D 0.861 P 0.780 N 1.000 P 1.195 L 2.33 T -0.959 T 0.000 T 0.052 0.664 7.557 0.842 0.759 0.446 5.045 0.663873 NA 0.08 0.109055 0.242163 NA 0.094 NA 8.5090784 801 3 12856856 12856856 A G exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon6:c.A944G:p.Q315R,CAND2:NM_001162499:exon8:c.A1223G:p.Q408R exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon6:c.A944G:p.Q315R,ENSG00000144712:ENST00000456430:exon8:c.A1223G:p.Q408R Score=259;Name=lod=15 NA 3p25.2 NA NA NA NA rs2305398 0.59 0.59 0.645 0.576478 0.6551 0.2907 0.4986 0.972 0.3108 0.64 0.26 0.5 0.95 0.5526 0.95 0.82 T 0.0 B 0.0 B 0.027 N 0.000 P -1.545 N -0.13 T -0.975 T 0.000 T 0.014 -1.214 0.066 3.85 1.046 0.601 7.173 -1.213618 NA 1 0.619223 0.9109 NA 0.667 NA 8.5064104 801 4 77033590 77033590 C T exonic ART3 NA nonsynonymous SNV ART3:NM_001130017:exon10:c.C1022T:p.S341L,ART3:NM_001179:exon11:c.C1055T:p.S352L,ART3:NM_001130016:exon12:c.C1088T:p.S363L exonic ENSG00000156219 NA nonsynonymous SNV ENSG00000156219:ENST00000341029:exon10:c.C1022T:p.S341L,ENSG00000156219:ENST00000349321:exon11:c.C1055T:p.S352L,ENSG00000156219:ENST00000355810:exon12:c.C1088T:p.S363L Score=304;Name=lod=23 NA 4q21.1 NA NA NA NA rs1128864 0.47 0.47 0.466 0.483826 0.2346 0.5982 0.4035 0.7035 0.3824 0.24 0.61 0.38 0.73 0.3516 0.73 0.19 T 0.025 B 0.006 B 0.521 N 1.000 P 0.35 N 2.98 T -0.965 T 0.000 T 0.165 0.369 6.004 2.52 0.741 0.816 11.057 0.369077 NA 0.09 0.241163 0.629142 NA 0.384 NA 8.5059704 801 4 187209702 187209702 G T exonic F11 NA synonymous SNV F11:NM_000128:exon15:c.G1812T:p.R604R exonic ENSG00000088926 NA synonymous SNV ENSG00000088926:ENST00000264692:exon15:c.G1656T:p.R552R,ENSG00000088926:ENST00000403665:exon15:c.G1812T:p.R604R NA NA 4q35.2 NA NA NA NA rs5971 0.09 0.09 0.094 0.0894569 0.0537 0.0843 0.0677 0.1445 0.0726 0.06 0.09 0.07 0.15 0.061 0.15 . . . . . . . . 0.000 P . . . . -1.025 T 0.000 T . 1.766 11.86 -2.53 -0.335 -1.510 3.347 1.765587 1.765587 NA 0.046279 0.123468 ID=COSM149775;OCCURENCE=1(stomach) 0.094 NA 8.5056876 802 4 44682465 44682465 T C exonic GUF1 NA nonsynonymous SNV GUF1:NM_021927:exon2:c.T173C:p.L58P exonic ENSG00000151806 NA nonsynonymous SNV ENSG00000151806:ENST00000281543:exon2:c.T173C:p.L58P NA NA 4p12 Score=864;Name=V$OCT1_06 NA NA NA rs6447368 0.46 0.46 0.43 0.440296 0.6014 0.4018 0.5202 0.2897 0.4611 0.59 0.4 0.52 0.29 0.5915 0.64 0.09 T 0.0 B 0.001 B 0.700 N 0.999 P 0 N -0.45 T -0.917 T 0.000 T 0.021 1.072 9.377 2.83 0.412 4.783 7.019 1.072042 NA 0.14 0.635814 0.345665 ID=COSM149668;OCCURENCE=1(stomach) 0.594 NA 8.5046194 802 2 100058870 100058870 C T exonic REV1 NA nonsynonymous SNV REV1:NM_001037872:exon5:c.G412A:p.V138M,REV1:NM_016316:exon5:c.G412A:p.V138M exonic ENSG00000135945 NA nonsynonymous SNV ENSG00000135945:ENST00000258428:exon5:c.G412A:p.V138M,ENSG00000135945:ENST00000393445:exon5:c.G412A:p.V138M NA NA 2q11.2 NA NA NA NA rs3087403 0.24 0.24 0.226 0.225839 0.2833 0.0625 0.3415 0.2995 0.1534 0.28 0.05 0.34 0.31 0.2675 0.34 0.11 T 0.038 B 0.03 B 0.066 N 1.000 P 1.935 M 1.59 T -0.996 T 0.000 T 0.057 1.908 12.34 1.76 0.052 1.136 6.628 1.908171 1.908171 0.1 0.278605 0.282796 NA 0.188 NA 8.5039284 802 19 35648365 35648365 T G exonic FXYD5 NA nonsynonymous SNV FXYD5:NM_001164605:exon3:c.T103G:p.S35A,FXYD5:NM_014164:exon3:c.T103G:p.S35A,FXYD5:NM_144779:exon3:c.T103G:p.S35A exonic ENSG00000089327 NA nonsynonymous SNV ENSG00000089327:ENST00000342879:exon2:c.T103G:p.S35A,ENSG00000089327:ENST00000392218:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000392219:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000423817:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000541435:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000543307:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000588699:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000590686:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000592290:exon3:c.T103G:p.S35A NA NA 19q13.12 NA NA NA NA rs1688005 0.45 0.45 0.439 0.41234 0.2565 0.7976 0.3487 0.3359 0.3241 0.26 0.81 0.38 0.37 0.3215 0.81 0.44 T 0.0 B 0.001 B 0.007 N 1.000 P 0 N 0.86 T -0.959 T 0.000 T 0.018 -0.919 0.4 -4.58 -0.698 -2.286 0.659 -0.91867 NA 0.7 0.251744 0.325465 NA 0.348 NA 8.5035894 802 12 49424534 49424534 G A exonic MLL2 NA synonymous SNV MLL2:NM_003482:exon41:c.C13689T:p.P4563P exonic ENSG00000167548 NA synonymous SNV ENSG00000167548:ENST00000301067:exon41:c.C13689T:p.P4563P Score=605;Name=lod=382 NA 12q13.12 Score=730;Name=V$NRSF_01 NA NA NA rs11168830 0.12 0.12 0.087 0.122804 0.0358 0.256 0.2248 0.0492 0.1022 0.04 0.27 0.19 0.05 0.0946 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313213 NA NA 0.033027 0.049009 NA 0.029 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080132.1;CLNDSDB=.;CLNDSDBID=. 8.5032396 802 19 53344051 53344051 T C exonic ZNF468 NA nonsynonymous SNV ZNF468:NM_001008801:exon4:c.A1496G:p.E499G exonic ENSG00000204604 NA nonsynonymous SNV ENSG00000204604:ENST00000390651:exon4:c.A1337G:p.E446G,ENSG00000204604:ENST00000595646:exon4:c.A1496G:p.E499G,ENSG00000204604:ENST00000396409:exon5:c.A1337G:p.E446G NA NA 19q13.41 NA NA NA NA rs75548544 0.09 0.09 0.075 0.0970447 0.1163 0.0496 0.1124 0.0998 0.1115 0.11 0.05 0.1 0.08 0.1068 0.11 0 D 0.89 P 0.233 B . . 1.000 P 1.66 L 1.29 T -1.092 T 0.002 T 0.101 1.06 9.327 -0.842 -0.506 0.466 4.076 1.059528 NA 0 0.107209 0.095098 NA 0.138 NA 8.5030244 802 12 122812503 122812503 G C exonic CLIP1 NA nonsynonymous SNV CLIP1:NM_198240:exon15:c.C3102G:p.D1034E,CLIP1:NM_002956:exon16:c.C3207G:p.D1069E,CLIP1:NM_001247997:exon17:c.C3240G:p.D1080E exonic ENSG00000130779 NA nonsynonymous SNV ENSG00000130779:ENST00000545889:exon12:c.C1965G:p.D655E,ENSG00000130779:ENST00000302528:exon15:c.C3207G:p.D1069E,ENSG00000130779:ENST00000361654:exon15:c.C2874G:p.D958E,ENSG00000130779:ENST00000537178:exon15:c.C3102G:p.D1034E,ENSG00000130779:ENST00000358808:exon16:c.C3207G:p.D1069E,ENSG00000130779:ENST00000540338:exon16:c.C3240G:p.D1080E Score=387;Name=lod=50 NA 12q24.31 Score=787;Name=V$PPARG_03 NA Name=20 NA rs1129167 0.41 0.41 0.42 0.40655 0.6412 0.3889 0.5159 0.0575 0.5777 0.64 0.36 0.48 0.08 0.5625 0.64 1 T 0.0 B 0.001 B 0.000 N 0.000 P 0 N 1.26 T -0.930 T 0.000 T 0.061 -1.209 0.068 0.728 0.062 0.280 1.701 -1.209154 NA 0.72 0.626744 0.159101 NA 0.42 NA 8.5028894 802 1 43917637 43917637 G A exonic HYI NA synonymous SNV HYI:NM_001190880:exon4:c.C474T:p.D158D,HYI:NM_031207:exon4:c.C474T:p.D158D,HYI:NM_001243526:exon5:c.C549T:p.D183D exonic ENSG00000178922 NA synonymous SNV ENSG00000178922:ENST00000372425:exon4:c.C474T:p.D158D,ENSG00000178922:ENST00000372426:exon4:c.C330T:p.D110D,ENSG00000178922:ENST00000372432:exon4:c.C474T:p.D158D,ENSG00000178922:ENST00000486909:exon4:c.C474T:p.D158D,ENSG00000178922:ENST00000583037:exon4:c.C255T:p.D85D,ENSG00000178922:ENST00000372434:exon5:c.C549T:p.D183D Score=545;Name=lod=218 NA 1p34.2 Score=793;Name=V$GFI1_01 NA NA NA rs2251802 0.28 0.28 0.256 0.223043 0.4215 0.0784 0.389 0.1884 0.0971 0.42 0.08 0.42 0.21 0.3291 0.42 . . . . . . . . 0.000 P . . . . -0.923 T 0.000 T . 1.106 9.51 2.46 0.334 0.684 4.510 1.105568 NA 0.23 0.413953 0.233318 NA 0.362 NA 8.5021136 802 1 156263940 156263940 T C exonic C1orf85 NA nonsynonymous SNV C1orf85:NM_001256605:exon3:c.A409G:p.I137V,C1orf85:NM_001256604:exon4:c.A667G:p.I223V,C1orf85:NM_001256608:exon4:c.A667G:p.I223V,C1orf85:NM_001256609:exon4:c.A424G:p.I142V,C1orf85:NM_144580:exon4:c.A667G:p.I223V exonic ENSG00000198715 NA nonsynonymous SNV ENSG00000198715:ENST00000368264:exon3:c.A409G:p.I137V,ENSG00000198715:ENST00000362007:exon4:c.A667G:p.I223V NA NA 1q22 Score=809;Name=V$SRF_Q6 NA NA NA rs10908495 0.21 0.21 0.195 0.20647 0.2694 0.2272 0.2795 0.0923 0.2229 0.27 0.24 0.23 0.09 0.2688 0.29 0.56 T 0.0 B 0.0 B 0.264 N 1.000 P -1.78 N 2.06 T -0.913 T 0.004 T 0.03 -0.79 0.703 2.5 0.301 -0.073 6.184 -0.790072 NA 0.89 0.293256 0.123468 NA 0.217 NA 8.5018774 802 19 55667647 55667647 C A exonic TNNI3 NA unknown UNKNOWN exonic ENSG00000129991 NA nonsynonymous SNV ENSG00000129991:ENST00000586858:exon2:c.G167T:p.G56V Score=401;Name=lod=57 NA 19q13.42 NA Name=ZBTB7A_(SC-34508) NA NA rs3729711 0.03 0.03 0.029 0.0227636 0.0696 0.001 0.0274 0.0023 0.0215 0.08 NA 0.03 NA 0.0461 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.963117 1.963117 NA 0.05049 0.006879 NA 0.065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036274.1;CLNDSDB=.;CLNDSDBID=. 8.5004767 802 2 26683777 26683777 G A exonic OTOF NA synonymous SNV OTOF:NM_194322:exon26:c.C3585T:p.R1195R,OTOF:NM_004802:exon27:c.C3354T:p.R1118R,OTOF:NM_194323:exon27:c.C3354T:p.R1118R,OTOF:NM_194248:exon44:c.C5655T:p.R1885R exonic ENSG00000115155 NA synonymous SNV ENSG00000115155:ENST00000402415:exon26:c.C3585T:p.R1195R,ENSG00000115155:ENST00000338581:exon27:c.C3354T:p.R1118R,ENSG00000115155:ENST00000339598:exon27:c.C3354T:p.R1118R,ENSG00000115155:ENST00000272371:exon44:c.C5655T:p.R1885R,ENSG00000115155:ENST00000403946:exon44:c.C5655T:p.R1885R Score=654;Name=lod=608 NA 2p23.3 Score=824;Name=V$ARP1_01 NA NA NA rs45442103 0.03 0.03 0.025 0.023762 0.0596 NA 0.0533 0.0023 0.0194 0.06 NA 0.07 0.0041 0.0447 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29141 1.29141 NA 0.062209 0.01044 NA 0.014 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000021070.1|RCV000041579.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK1251:C1832828:601071:ORPHA90636|. 8.5001576 802 3 184700426 184700426 C T exonic VPS8 NA nonsynonymous SNV VPS8:NM_001009921:exon40:c.C3493T:p.H1165Y,VPS8:NM_015303:exon40:c.C3487T:p.H1163Y exonic ENSG00000156931 NA nonsynonymous SNV ENSG00000156931:ENST00000446204:exon38:c.C3217T:p.H1073Y,ENSG00000156931:ENST00000287546:exon40:c.C3493T:p.H1165Y,ENSG00000156931:ENST00000436792:exon40:c.C3487T:p.H1163Y,ENSG00000156931:ENST00000437079:exon41:c.C3493T:p.H1165Y NA NA 3q27.2 NA NA NA NA rs11555405 0.3 0.3 0.261 0.285942 0.2883 0.506 0.3285 0.0174 0.3896 0.3 0.51 0.35 0.02 0.2934 0.51 1 T 0.007 B 0.014 B 0.014 N 1.000 P 0.145 N 2.29 T -0.951 T 0.000 T 0.067 0.026 4.147 5.09 1.408 0.339 9.218 0.025712 NA 0.19 0.252425 0.048652 NA 0.341 NA 8.4992084 802 12 51737562 51737562 T C exonic CELA1 NA nonsynonymous SNV CELA1:NM_001971:exon3:c.A175G:p.M59V exonic ENSG00000139610 NA nonsynonymous SNV ENSG00000139610:ENST00000293636:exon3:c.A175G:p.M59V Score=531;Name=lod=191 NA 12q13.13 NA NA NA NA rs17860300 0.15 0.15 0.138 0.14377 0.2873 0.0417 0.1772 0.0809 0.1626 0.26 0.03 0.19 0.09 0.2376 0.31 0.55 T 0.011 B 0.024 B 0.001 N 0.028 P -0.76 N -2.94 D -1.043 T 0.000 T 0.247 2.022 12.72 -0.799 0.013 -0.007 3.405 2.021611 2.021611 0.18 0.31 0.118929 NA 0.254 NA 8.4984334 802 22 40417820 40417820 A G exonic FAM83F NA nonsynonymous SNV FAM83F:NM_138435:exon4:c.A1306G:p.R436G exonic ENSG00000133477 NA nonsynonymous SNV ENSG00000133477:ENST00000333407:exon4:c.A1306G:p.R436G NA NA 22q13.1 NA NA NA NA rs5995794 0.23 0.23 0.222 0.271166 0.2863 0.0863 0.1585 0.3359 0.4387 0.3 0.08 0.17 0.34 0.2698 0.34 0.14 T 0.067 B 0.025 B 0.326 N 1.000 P 0.895 L 2.91 T -0.922 T 0.000 T 0.064 0.612 7.297 2.72 0.478 3.639 8.847 0.612217 NA 0.01 0.279614 0.271136 ID=COSM445024;OCCURENCE=1(breast) 0.246 NA 8.4976194 802 6 29911124 29911124 C T exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon3:c.C423T:p.A141A,HLA-A:NM_002116:exon3:c.C423T:p.A141A exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376802:exon3:c.C423T:p.A141A,ENSG00000206503:ENST00000376806:exon3:c.C423T:p.A141A,ENSG00000206503:ENST00000376809:exon3:c.C423T:p.A141A,ENSG00000206503:ENST00000396634:exon5:c.C423T:p.A141A Score=336;Name=lod=31 NA 6p22.1 NA Name=Pol2-4H8 Name=10 NA rs3173418 0.06 0.06 0.07 0.0587061 0.0477 0.0397 0.0259 0.1021 0.0542 0.04 0.04 0.03 0.11 0.0628 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095557 NA NA 0.059335 0.090879 NA 0.029 NA 8.4968316 802 1 35250720 35250720 C T exonic GJB3 NA synonymous SNV GJB3:NM_001005752:exon2:c.C357T:p.N119N,GJB3:NM_024009:exon2:c.C357T:p.N119N exonic ENSG00000188910 NA synonymous SNV ENSG00000188910:ENST00000373362:exon2:c.C357T:p.N119N,ENSG00000188910:ENST00000373366:exon2:c.C357T:p.N119N NA NA 1p34.3 NA Name=E2F6 Name=6 NA rs41310442 0.07 0.07 0.069 0.0976438 0.0457 0.122 0.0331 0.1051 0.1616 0.04 0.1 0.03 0.1 0.0749 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871369 NA NA 0.050233 0.099637 NA 0.058 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039321.1;CLNDSDB=.;CLNDSDBID=. 8.4958336 802 6 75848181 75848181 A G exonic COL12A1 NA nonsynonymous SNV COL12A1:NM_080645:exon14:c.T1721C:p.I574T,COL12A1:NM_004370:exon29:c.T5213C:p.I1738T exonic ENSG00000111799 NA nonsynonymous SNV ENSG00000111799:ENST00000345356:exon14:c.T1721C:p.I574T,ENSG00000111799:ENST00000416123:exon28:c.T5213C:p.I1738T,ENSG00000111799:ENST00000322507:exon29:c.T5213C:p.I1738T,ENSG00000111799:ENST00000483888:exon29:c.T5213C:p.I1738T NA NA 6q13 NA NA NA NA rs240736 0.26 0.26 0.253 0.264976 0.2883 0.1548 0.2911 0.3487 0.2229 0.27 0.15 0.28 0.34 0.2647 0.34 0.61 T 0.0 B 0.001 B 0.404 N 1.000 P -0.075 N -2.11 D -0.947 T 0.128 T 0.127 0.382 6.073 -11.6 -2.627 0.400 11.451 0.381789 NA NA 0.284614 0.307994 NA 0.297 NA 8.4957194 802 8 95680229 95680229 C T exonic ESRP1 NA synonymous SNV ESRP1:NM_001034915:exon10:c.C984T:p.V328V,ESRP1:NM_001122825:exon10:c.C984T:p.V328V,ESRP1:NM_001122826:exon10:c.C984T:p.V328V,ESRP1:NM_001122827:exon10:c.C984T:p.V328V,ESRP1:NM_017697:exon10:c.C984T:p.V328V exonic ENSG00000104413 NA synonymous SNV ENSG00000104413:ENST00000517610:exon7:c.C561T:p.V187V,ENSG00000104413:ENST00000358397:exon10:c.C984T:p.V328V,ENSG00000104413:ENST00000423620:exon10:c.C984T:p.V328V,ENSG00000104413:ENST00000433389:exon10:c.C984T:p.V328V,ENSG00000104413:ENST00000454170:exon10:c.C984T:p.V328V Score=600;Name=lod=366 NA 8q22.1 Score=800;Name=V$PAX4_01 Name=CTCF NA NA rs1549466 0.36 0.36 0.321 0.352436 0.3897 0.5387 0.3804 0.0514 0.5092 0.41 0.54 0.37 0.06 0.4026 0.54 . . . . . . . . 0.000 P . . . . -0.909 T 0.000 T . 1.131 9.611 -0.637 -0.440 -0.523 9.871 1.131193 NA NA 0.378817 0.105249 NA 0.333 NA 8.4955496 803 19 8160334 8160334 G A exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon45:c.C5710T:p.L1904F exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon45:c.C5710T:p.L1904F,ENSG00000142449:ENST00000600128:exon46:c.C5710T:p.L1904F,ENSG00000142449:ENST00000601739:exon46:c.C5710T:p.L1904F Score=508;Name=lod=155 NA 19p13.2 NA NA NA NA rs12608849 0.29 0.29 0.267 0.309505 0.2843 0.4881 0.2767 0.0613 0.5102 0.28 0.48 0.29 0.07 0.302 0.48 0.32 T 0.059 B 0.045 B 0.000 U 0.906 P 0.76 N -2.3 D -0.988 T 0.000 T 0.041 -0.498 1.717 -0.659 0.053 0.137 3.957 -0.49754 NA 0.86 0.252674 0.093736 NA 0.312 NA 8.4943594 803 4 185310218 185310218 C T exonic IRF2 NA synonymous SNV IRF2:NM_002199:exon9:c.G744A:p.G248G exonic ENSG00000168310 NA synonymous SNV ENSG00000168310:ENST00000502750:exon4:c.G315A:p.G105G,ENSG00000168310:ENST00000393593:exon9:c.G744A:p.G248G Score=534;Name=lod=197 NA 4q35.1 NA NA NA NA rs1131553 0.4 0.4 0.376 0.423123 0.3598 0.4216 0.5245 0.3548 0.5102 0.37 0.37 0.53 0.37 0.422 0.53 . . . . . . . . 0.000 P . . . . -0.906 T 0.000 T . 0.127 4.681 -4.03 -0.699 -1.266 1.133 0.126624 NA NA 0.392558 0.346119 ID=COSM149769;OCCURENCE=1(stomach) 0.442 NA 8.4923086 803 1 158988270 158988270 T C exonic IFI16 NA synonymous SNV IFI16:NM_001206567:exon4:c.T633C:p.Y211Y,IFI16:NM_005531:exon5:c.T801C:p.Y267Y exonic ENSG00000163565 NA synonymous SNV ENSG00000163565:ENST00000474473:exon3:c.T327C:p.Y109Y,ENSG00000163565:ENST00000359709:exon4:c.T633C:p.Y211Y,ENSG00000163565:ENST00000430894:exon4:c.T645C:p.Y215Y,ENSG00000163565:ENST00000448393:exon4:c.T801C:p.Y267Y,ENSG00000163565:ENST00000295809:exon5:c.T801C:p.Y267Y,ENSG00000163565:ENST00000340979:exon5:c.T801C:p.Y267Y,ENSG00000163565:ENST00000368131:exon5:c.T801C:p.Y267Y,ENSG00000163565:ENST00000368132:exon5:c.T801C:p.Y267Y NA NA 1q23.1 NA NA NA NA rs11539423 0.04 0.04 0.023 0.028754 0.0636 NA 0.0591 0.0174 0.0164 0.06 NA 0.07 0.03 0.0478 0.07 . . . . . . . . 1.000 N . . . . -0.980 T 0.018 T . -0.413 2.073 -5.25 -0.631 -1.264 4.367 -0.412503 NA NA 0.063488 0.021562 NA 0.145 NA 8.4917786 803 3 108147728 108147728 T C exonic MYH15 NA nonsynonymous SNV MYH15:NM_014981:exon28:c.A3373G:p.T1125A exonic ENSG00000144821 NA nonsynonymous SNV ENSG00000144821:ENST00000273353:exon28:c.A3373G:p.T1125A Score=484;Name=lod=124 NA 3q13.13 NA NA NA NA rs3900940 0.18 0.18 0.161 0.16893 0.3131 0.0119 0.2032 0.1241 0.2188 0.33 NA 0.26 0.13 0.2405 0.33 1 T 0.001 B 0.009 B . . 0.342 P -1.11 N -0.89 T -1.055 T 0.000 T 0.008 -1.409 0.022 -1.67 -0.097 1.227 5.557 -1.409432 NA 1 0.288306 0.142237 NA 0.152 NA 8.4914274 803 18 52895531 52895531 T C exonic TCF4 NA synonymous SNV TCF4:NM_001243234:exon12:c.A1461G:p.S487S,TCF4:NM_001243235:exon12:c.A1449G:p.S483S,TCF4:NM_001243236:exon12:c.A1449G:p.S483S,TCF4:NM_001243232:exon15:c.A1728G:p.S576S,TCF4:NM_001243233:exon15:c.A1539G:p.S513S,TCF4:NM_001243231:exon17:c.A1803G:p.S601S,TCF4:NM_001243227:exon18:c.A1869G:p.S623S,TCF4:NM_001243230:exon18:c.A1920G:p.S640S,TCF4:NM_001083962:exon19:c.A1941G:p.S647S,TCF4:NM_001243228:exon19:c.A1959G:p.S653S,TCF4:NM_003199:exon19:c.A1929G:p.S643S,TCF4:NM_001243226:exon20:c.A2247G:p.S749S exonic ENSG00000196628 NA synonymous SNV ENSG00000196628:ENST00000457482:exon12:c.A1461G:p.S487S,ENSG00000196628:ENST00000561831:exon12:c.A1449G:p.S483S,ENSG00000196628:ENST00000570287:exon12:c.A1449G:p.S483S,ENSG00000196628:ENST00000537856:exon14:c.A1539G:p.S513S,ENSG00000196628:ENST00000570177:exon14:c.A1539G:p.S513S,ENSG00000196628:ENST00000544241:exon15:c.A1728G:p.S576S,ENSG00000196628:ENST00000561992:exon15:c.A1539G:p.S513S,ENSG00000196628:ENST00000564228:exon15:c.A1716G:p.S572S,ENSG00000196628:ENST00000567880:exon16:c.A1749G:p.S583S,ENSG00000196628:ENST00000543082:exon17:c.A1803G:p.S601S,ENSG00000196628:ENST00000566279:exon17:c.A1761G:p.S587S,ENSG00000196628:ENST00000537578:exon18:c.A1869G:p.S623S,ENSG00000196628:ENST00000540999:exon18:c.A1857G:p.S619S,ENSG00000196628:ENST00000566286:exon18:c.A1920G:p.S640S,ENSG00000196628:ENST00000568673:exon18:c.A1869G:p.S623S,ENSG00000196628:ENST00000568740:exon18:c.A1854G:p.S618S,ENSG00000196628:ENST00000354452:exon19:c.A1941G:p.S647S,ENSG00000196628:ENST00000356073:exon19:c.A1929G:p.S643S,ENSG00000196628:ENST00000564403:exon19:c.A1959G:p.S653S,ENSG00000196628:ENST00000564999:exon19:c.A1929G:p.S643S,ENSG00000196628:ENST00000565018:exon19:c.A1941G:p.S647S,ENSG00000196628:ENST00000398339:exon20:c.A2247G:p.S749S NA NA 18q21.2 Score=735;Name=V$PAX4_04 Name=CTCF Name=67 NA rs8766 0.38 0.38 0.368 0.342452 0.4155 0.4008 0.366 0.2965 0.2526 0.39 0.43 0.38 0.29 0.3714 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740505 NA NA 0.388605 0.317975 NA 0.413 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079460.1|RCV000128388.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.4911616 803 1 55524197 55524197 A G exonic PCSK9 NA synonymous SNV PCSK9:NM_174936:exon9:c.A1380G:p.V460V exonic ENSG00000169174 NA nonsynonymous SNV ENSG00000169174:ENST00000543384:exon7:c.A728G:p.Y243C Score=387;Name=lod=50 NA 1p32.3 NA NA NA NA rs540796 0.86 0.86 0.851 0.869209 0.8211 0.9881 0.8948 0.7746 0.9059 0.82 0.98 0.88 0.79 0.8544 0.98 0.16 T . . . . . . 0.000 P . . -1.5 D -1.013 T 0.000 T . -0.265 2.729 4.47 0.861 1.258 7.514 -0.264858 NA NA 0.833488 0.787108 NA 0.855 NA 8.491012 803 2 116510817 116510817 G C exonic DPP10 NA nonsynonymous SNV DPP10:NM_001004360:exon11:c.G997C:p.A333P,DPP10:NM_001178034:exon11:c.G1030C:p.A344P,DPP10:NM_001178037:exon11:c.G1006C:p.A336P,DPP10:NM_020868:exon11:c.G1018C:p.A340P,DPP10:NM_001178036:exon12:c.G868C:p.A290P exonic ENSG00000175497 NA nonsynonymous SNV ENSG00000175497:ENST00000310323:exon11:c.G997C:p.A333P,ENSG00000175497:ENST00000393147:exon11:c.G1030C:p.A344P,ENSG00000175497:ENST00000410059:exon11:c.G1018C:p.A340P,ENSG00000175497:ENST00000409163:exon12:c.G868C:p.A290P Score=519;Name=lod=172 NA 2q14.1 NA NA NA NA rs2053724 0.57 0.57 0.515 0.529353 0.6252 0.7321 0.732 0.1589 0.5787 0.63 0.75 0.7 0.19 0.6108 0.75 0.46 T 0.027 B 0.005 B 0.002 N 1.000 P 1.35 L 1.6 T -1.037 T 0.000 T 0.063 1.237 10.02 3.2 0.734 1.938 17.145 1.237402 1.237402 0.27 0.606512 0.22719 ID=COSM441031,COSM441030;OCCURENCE=1(breast) 0.493 NA 8.4908214 803 4 52938243 52938243 T C exonic SPATA18 NA nonsynonymous SNV SPATA18:NM_145263:exon6:c.T679C:p.S227P exonic ENSG00000163071 NA nonsynonymous SNV ENSG00000163071:ENST00000419395:exon5:c.T583C:p.S195P,ENSG00000163071:ENST00000295213:exon6:c.T679C:p.S227P,ENSG00000163071:ENST00000505320:exon6:c.T679C:p.S227P NA NA 4q12 Score=736;Name=V$MEF2_04 NA Name=8 NA rs3860707 0.46 0.46 0.373 0.383387 0.6441 0.3968 0.6182 0.084 0.3395 0.66 0.39 0.68 0.08 0.5554 0.68 0.29 T 0.378 B 0.192 B 0.058 N 1.000 P 1.61 L 1.5 T -1.012 T 0.000 T 0.291 1.999 12.64 -3.84 -0.593 0.287 16.528 1.999411 1.999411 0.19 0.643256 0.171584 NA 0.348 NA 8.4905774 803 17 64210757 64210757 C A exonic APOH NA nonsynonymous SNV APOH:NM_000042:exon7:c.G796T:p.V266L exonic ENSG00000091583 NA nonsynonymous SNV ENSG00000091583:ENST00000205948:exon7:c.G796T:p.V266L NA NA 17q24.2 NA NA NA NA rs4581 0.47 0.47 0.472 0.541534 0.2316 0.754 0.5403 0.5469 0.635 0.22 0.76 0.46 0.54 0.3738 0.76 0.78 T 0.0 B 0.001 B 0.016 N 1.000 P -0.2 N 1.65 T -0.992 T 0.000 T 0.033 0.319 5.73 -4.53 -0.422 -0.386 2.367 0.319109 NA 0.88 0.237558 0.509532 NA 0.457 CLINSIG=non-pathogenic;CLNDBN=APOH_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000017417.1;CLNDSDB=.;CLNDSDBID=. 8.4903754 803 16 23711925 23711925 C G exonic ERN2 NA nonsynonymous SNV ERN2:NM_033266:exon13:c.G1604C:p.S535T exonic ENSG00000134398 NA nonsynonymous SNV ENSG00000134398:ENST00000457008:exon12:c.G1304C:p.S435T,ENSG00000134398:ENST00000256797:exon13:c.G1604C:p.S535T NA NA 16p12.2 NA NA Name=9 NA rs26764 0.41 0.41 0.405 0.434704 0.2734 0.4792 0.3228 0.674 0.3108 0.28 0.46 0.3 0.64 0.3144 0.64 0.68 T 0.0 B 0.0 B 0.877 N 1.000 P -0.345 N 0.26 T -0.922 T 0.000 T 0.033 -0.769 0.763 2.02 0.255 0.105 6.493 -0.768622 NA 0.45 0.255465 0.594447 NA 0.428 NA 8.4900684 804 2 176987456 176987456 C A UTR5 HOXD9 NM_014213:c.-41C>A NA NA ncRNA_UTR5 ENSG00000128709 NA NA NA Score=762;Name=lod=1665 NA 2q31.1 Score=792;Name=V$PAX5_01 Name=Max,USF-1,USF2,Pol2,ATF3,YY1_(C-20),USF1_(SC-8983) Name=52 NA rs144600979 0.0018 0.0018 NA 0.00359425 0.007 NA 0.0101 NA 0.0041 0.0013 NA 0.01 NA 0.008 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.455598 1.455598 NA NA NA NA NA NA 8.485 804 22 33670584 33670584 G A exonic LARGE NA synonymous SNV LARGE:NM_133642:exon15:c.C2100T:p.N700N,LARGE:NM_004737:exon16:c.C2100T:p.N700N exonic ENSG00000133424 NA synonymous SNV ENSG00000133424:ENST00000452586:exon11:c.C1497T:p.N499N,ENSG00000133424:ENST00000402320:exon14:c.C1944T:p.N648N,ENSG00000133424:ENST00000437602:exon14:c.C1953T:p.N651N,ENSG00000133424:ENST00000337431:exon15:c.C1944T:p.N648N,ENSG00000133424:ENST00000397394:exon15:c.C2100T:p.N700N,ENSG00000133424:ENST00000354992:exon16:c.C2100T:p.N700N Score=731;Name=lod=1242 NA 22q12.3 NA Name=CTCF NA NA rs17722172 0.03 0.03 0.037 0.0209665 0.0656 0.001 0.0403 0.0038 0.0051 0.06 NA 0.04 0.01 0.0472 0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607901 NA NA 0.071395 0.01498 NA 0.022 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081178.1|RCV000126576.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.4824716 804 3 183818416 183818416 G A exonic HTR3E NA nonsynonymous SNV HTR3E:NM_001256614:exon1:c.G256A:p.A86T,HTR3E:NM_182589:exon1:c.G256A:p.A86T,HTR3E:NM_198314:exon1:c.G256A:p.A86T,HTR3E:NM_001256613:exon2:c.G211A:p.A71T,HTR3E:NM_198313:exon2:c.G211A:p.A71T exonic ENSG00000186038 NA nonsynonymous SNV ENSG00000186038:ENST00000335304:exon1:c.G256A:p.A86T,ENSG00000186038:ENST00000436361:exon1:c.G256A:p.A86T,ENSG00000186038:ENST00000440596:exon1:c.G256A:p.A86T,ENSG00000186038:ENST00000415389:exon2:c.G211A:p.A71T,ENSG00000186038:ENST00000425359:exon2:c.G211A:p.A71T Score=458;Name=lod=97 NA 3q27.1 NA NA NA NA rs7627615 0.75 0.75 0.762 0.734225 0.6233 0.7679 0.683 0.9251 0.592 0.62 0.78 0.72 0.92 0.6407 0.92 1 T 0.001 B 0.001 B 0.000 N 1.000 P -1.95 N -0.95 T -0.956 T 0.000 T 0.053 -0.423 2.027 2.64 0.176 3.012 6.686 -0.423357 NA 1 0.58814 0.870858 NA 0.804 NA 8.4811934 804 7 154738409 154738409 T C exonic PAXIP1 NA nonsynonymous SNV PAXIP1:NM_007349:exon18:c.A3037G:p.M1013V exonic ENSG00000157212 NA nonsynonymous SNV ENSG00000157212:ENST00000397192:exon18:c.A3037G:p.M1013V,ENSG00000157212:ENST00000404141:exon18:c.A3037G:p.M1013V Score=554;Name=lod=237 NA 7q36.2 NA NA NA NA rs3501 0.23 0.23 0.205 0.235423 0.3012 0.2083 0.3818 0.0726 0.3119 0.29 0.21 0.36 0.08 0.2813 0.36 0.58 T 0.0 B 0.001 B 0.001 N 0.024 P 1.1 L 0.99 T -0.929 T 0.000 T 0.056 1.897 12.3 0.184 -0.203 1.156 5.536 1.897499 1.897499 0.38 0.269645 0.097409 ID=COSM150431,COSM1449566;OCCURENCE=1(stomach),1(large_intestine) 0.225 NA 8.4811884 804 9 33135238 33135238 G A exonic B4GALT1 NA synonymous SNV B4GALT1:NM_001497:exon2:c.C597T:p.H199H exonic ENSG00000086062 NA synonymous SNV ENSG00000086062:ENST00000379731:exon2:c.C597T:p.H199H,ENSG00000086062:ENST00000535206:exon2:c.C597T:p.H199H Score=604;Name=lod=379 NA 9p21.1 Score=827;Name=V$OCT_C NA NA NA rs1065765 0.06 0.06 0.059 0.0473243 0.0626 0.0585 0.0331 0.0492 0.0276 0.06 0.07 0.03 0.05 0.0578 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451378 NA NA 0.066163 0.037903 NA 0.036 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079717.1;CLNDSDB=.;CLNDSDBID=. 8.4801036 804 16 71710428 71710428 G A exonic PHLPP2 NA synonymous SNV PHLPP2:NM_015020:exon8:c.C1393T:p.L465L exonic ENSG00000040199 NA synonymous SNV ENSG00000040199:ENST00000568004:exon4:c.C607T:p.L203L,ENSG00000040199:ENST00000356272:exon8:c.C1393T:p.L465L,ENSG00000040199:ENST00000360429:exon8:c.C1393T:p.L465L,ENSG00000040199:ENST00000393524:exon8:c.C1393T:p.L465L,ENSG00000040199:ENST00000567016:exon9:c.C1498T:p.L500L,ENSG00000040199:ENST00000568954:exon9:c.C1393T:p.L465L Score=633;Name=lod=497 NA 16q22.2 Score=903;Name=V$E47_02 NA Name=7 NA rs61733123 0.05 0.05 0.038 0.0423323 0.0636 0.0456 0.0303 0.0023 0.0798 0.07 0.06 0.04 0.0041 0.0578 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145297 NA NA 0.065349 0.010009 NA 0.029 NA 8.4799176 804 10 101451259 101451259 T C exonic ENTPD7 NA nonsynonymous SNV ENTPD7:NM_020354:exon8:c.T827C:p.V276A exonic ENSG00000198018 NA nonsynonymous SNV ENSG00000198018:ENST00000370489:exon8:c.T827C:p.V276A Score=616;Name=lod=427 NA 10q24.2 NA NA Name=4 NA rs11190245 0.26 0.26 0.24 0.230631 0.3022 0.2956 0.2118 0.1785 0.1738 0.31 0.28 0.22 0.19 0.256 0.31 0.83 T 0.002 B 0.003 B 0.031 N 1.000 P -0.205 N 2.79 T -0.968 T 0.000 T 0.012 1.233 10 -1.58 -0.462 0.223 0.826 1.233309 1.233309 0.3 0.295349 0.190649 NA 0.188 NA 8.4797844 804 2 73492614 73492614 A T exonic FBXO41 NA nonsynonymous SNV FBXO41:NM_001080410:exon4:c.T1360A:p.S454T exonic ENSG00000163013 NA nonsynonymous SNV ENSG00000163013:ENST00000295133:exon5:c.T1543A:p.S515T,ENSG00000163013:ENST00000520530:exon5:c.T1360A:p.S454T,ENSG00000163013:ENST00000521871:exon5:c.T1360A:p.S454T Score=407;Name=lod=60 NA 2p13.2 Score=929;Name=V$IK2_01 NA NA NA rs526106 0.33 0.33 0.316 0.330272 0.2674 0.4752 0.2421 0.2837 0.3712 0.27 0.48 0.28 0.28 0.3283 0.48 0.85 T . . . . 0.261 N 0.998 P 0.345 N . . -0.939 T 0.000 T 0.042 2.199 13.31 -0.818 -0.113 0.752 0.848 2.199095 2.199095 0.35 0.25948 0.271561 NA 0.275 NA 8.4781534 804 19 51323232 51323232 T C exonic KLK1 NA nonsynonymous SNV KLK1:NM_002257:exon4:c.A556G:p.K186E exonic ENSG00000167748 NA nonsynonymous SNV ENSG00000167748:ENST00000301420:exon4:c.A556G:p.K186E,ENSG00000167748:ENST00000448701:exon5:c.A250G:p.K84E NA NA 19q13.33 NA NA NA NA rs5517 0.36 0.36 0.303 0.339457 0.2674 0.5972 0.4568 0.1815 0.2781 0.28 0.59 0.42 0.19 0.3197 0.59 1 T 0.011 B 0.025 B . . 1.000 P 0.29 N -2.41 D -1.010 T 0.000 T 0.155 -1.248 0.052 -0.553 -0.281 -1.665 6.404 -1.247545 NA 0.7 0.268605 0.196323 NA 0.399 NA 8.4776284 804 1 31426815 31426815 A G exonic PUM1 NA synonymous SNV PUM1:NM_001020658:exon15:c.T2337C:p.N779N,PUM1:NM_014676:exon15:c.T2337C:p.N779N exonic ENSG00000134644 NA synonymous SNV ENSG00000134644:ENST00000424085:exon11:c.T1611C:p.N537N,ENSG00000134644:ENST00000423018:exon12:c.T1905C:p.N635N,ENSG00000134644:ENST00000373742:exon13:c.T2160C:p.N720N,ENSG00000134644:ENST00000257075:exon15:c.T2337C:p.N779N,ENSG00000134644:ENST00000373741:exon15:c.T2445C:p.N815N,ENSG00000134644:ENST00000373747:exon15:c.T2340C:p.N780N,ENSG00000134644:ENST00000426105:exon15:c.T2337C:p.N779N,ENSG00000134644:ENST00000440538:exon15:c.T2259C:p.N753N Score=597;Name=lod=357 NA 1p35.2 NA NA NA NA rs2275741 0.36 0.36 0.319 0.357428 0.3767 0.3462 0.4726 0.2859 0.364 0.38 0.34 0.45 0.29 0.4136 0.45 . . . . . . . . 0.000 P . . . . -1.046 T 0.000 T . 0.842 8.399 -4.63 -1.276 -0.433 16.103 0.841585 NA NA 0.399651 0.307762 NA 0.42 NA 8.4767156 804 7 107593989 107593989 T C exonic LAMB1 NA nonsynonymous SNV LAMB1:NM_002291:exon22:c.A3065G:p.Q1022R exonic ENSG00000091136 NA nonsynonymous SNV ENSG00000091136:ENST00000393561:exon20:c.A3137G:p.Q1046R,ENSG00000091136:ENST00000222399:exon22:c.A3065G:p.Q1022R NA NA 7q31.1 NA Name=MafK_(ab50322) Name=6 NA rs20556 0.7 0.7 0.705 0.695487 0.5865 0.8482 0.6571 0.7458 0.6094 0.58 0.84 0.62 0.75 0.6447 0.84 1 T 0.0 B 0.002 B . . 0.000 P -0.52 N 0.13 T -0.952 T 0.000 T 0.023 -1.384 0.025 -1.99 -0.742 -1.282 12.867 -1.38389 NA 0 0.625465 0.704721 NA 0.667 NA 8.4766684 804 10 115405664 115405664 C T exonic NRAP NA nonsynonymous SNV NRAP:NM_001261463:exon11:c.G1030A:p.A344T,NRAP:NM_006175:exon11:c.G1030A:p.A344T,NRAP:NM_198060:exon11:c.G1030A:p.A344T exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000359988:exon11:c.G1030A:p.A344T,ENSG00000197893:ENST00000360478:exon11:c.G1030A:p.A344T,ENSG00000197893:ENST00000369358:exon11:c.G1030A:p.A344T,ENSG00000197893:ENST00000369360:exon11:c.G1030A:p.A344T NA NA 10q25.3 NA NA NA NA rs3121478 0.59 0.59 0.577 0.564297 0.6243 0.7103 0.6715 0.2965 0.638 0.61 0.71 0.68 0.33 0.6175 0.71 0.37 T 0.044 B 0.022 B 0.000 D 0.999 P 0.69 N 2.58 T -1.053 T 0.000 T 0.132 0.436 6.368 2.78 0.407 1.976 11.252 0.436087 NA 0.48 0.614884 0.35202 NA 0.594 NA 8.4766494 804 10 115405615 115405615 T C exonic NRAP NA nonsynonymous SNV NRAP:NM_001261463:exon11:c.A1079G:p.Q360R,NRAP:NM_006175:exon11:c.A1079G:p.Q360R,NRAP:NM_198060:exon11:c.A1079G:p.Q360R exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000359988:exon11:c.A1079G:p.Q360R,ENSG00000197893:ENST00000360478:exon11:c.A1079G:p.Q360R,ENSG00000197893:ENST00000369358:exon11:c.A1079G:p.Q360R,ENSG00000197893:ENST00000369360:exon11:c.A1079G:p.Q360R Score=284;Name=lod=19 NA 10q25.3 NA NA NA NA rs3127106 0.59 0.59 0.566 0.564297 0.6243 0.7103 0.6715 0.2965 0.638 0.61 0.71 0.68 0.33 0.6175 0.71 1 T 0.0 B 0.001 B 0.000 N 1.000 P 0.26 N 2.56 T -0.959 T 0.000 T 0.145 0.664 7.556 4.61 0.826 1.741 7.126 0.663662 NA 0.78 0.615 0.352247 NA 0.594 NA 8.4765334 804 19 1438865 1438865 C T exonic RPS15 NA synonymous SNV RPS15:NM_001018:exon2:c.C63T:p.D21D exonic ENSG00000115268 NA synonymous SNV ENSG00000115268:ENST00000592588:exon1:c.C60T:p.D20D,ENSG00000115268:ENST00000586096:exon2:c.C63T:p.D21D,ENSG00000115268:ENST00000586686:exon2:c.C63T:p.D21D,ENSG00000115268:ENST00000589656:exon2:c.C63T:p.D21D,ENSG00000115268:ENST00000593052:exon2:c.C84T:p.D28D Score=650;Name=lod=583 NA 19p13.3 NA Name=ZBTB7A_(SC-34508) Name=10 NA rs7251165 0.04 0.04 0.044 0.0493211 0.0537 0.0298 0.0303 0.0461 0.0828 0.05 0.03 0.02 0.03 0.0873 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.011268 2.011268 NA 0.050572 0.044704 NA 0.022 NA 8.4750946 805 11 116729013 116729013 T C exonic SIK3 NA synonymous SNV SIK3:NM_025164:exon20:c.A2850G:p.Q950Q exonic ENSG00000160584 NA synonymous SNV ENSG00000160584:ENST00000375288:exon19:c.A855G:p.Q285Q,ENSG00000160584:ENST00000292055:exon20:c.A2850G:p.Q950Q,ENSG00000160584:ENST00000375300:exon20:c.A3024G:p.Q1008Q,ENSG00000160584:ENST00000446921:exon20:c.A2844G:p.Q948Q,ENSG00000160584:ENST00000542607:exon20:c.A2670G:p.Q890Q,ENSG00000160584:ENST00000434315:exon21:c.A2367G:p.Q789Q Score=490;Name=lod=131 NA 11q23.3 NA Name=GATA-2,p300 NA NA rs539858 0.18 0.18 0.15 0.232827 0.0427 0.13 0.1167 0.5492 0.1892 0.04 0.13 0.12 0.52 0.1016 0.52 . . . . . . . . 0.000 P . . . . -0.914 T 0.000 T . -1.216 0.064 0.133 -0.223 0.562 4.117 -1.216407 NA NA 0.048766 0.459337 NA 0.08 NA 8.4736006 805 18 47093864 47093864 C T exonic LIPG NA nonsynonymous SNV LIPG:NM_006033:exon3:c.C332T:p.T111I exonic ENSG00000101670 NA nonsynonymous SNV ENSG00000101670:ENST00000261292:exon3:c.C332T:p.T111I,ENSG00000101670:ENST00000427224:exon3:c.C332T:p.T111I,ENSG00000101670:ENST00000577628:exon3:c.C440T:p.T147I,ENSG00000101670:ENST00000579750:exon3:c.C296T:p.T99I,ENSG00000101670:ENST00000580036:exon3:c.C332T:p.T111I NA NA 18q21.1 NA NA NA NA rs2000813 0.24 0.24 0.224 0.240615 0.3022 0.3274 0.2277 0.0673 0.3313 0.29 0.32 0.28 0.06 0.2665 0.32 0.09 T 0.005 B 0.006 B 0.398 N 1.000 P 0.265 N -2.67 D -1.077 T 0.000 T 0.289 1.239 10.03 -3.65 -0.342 0.406 5.018 1.238711 1.238711 0.05 0.291395 0.107354 NA 0.145 NA 8.4732384 805 14 69727121 69727121 G A exonic GALNT16 NA synonymous SNV GALNT16:NM_001168368:exon1:c.G114A:p.R38R,GALNT16:NM_020692:exon1:c.G114A:p.R38R exonic ENSG00000100626 NA synonymous SNV ENSG00000100626:ENST00000337827:exon1:c.G114A:p.R38R,ENSG00000100626:ENST00000448469:exon1:c.G114A:p.R38R,ENSG00000100626:ENST00000553471:exon1:c.G114A:p.R38R,ENSG00000100626:ENST00000553669:exon1:c.G114A:p.R38R Score=680;Name=lod=777 NA 14q24.1 Score=792;Name=V$YY1_02 NA Name=79 NA rs150774678 0.03 0.03 0.037 0.0235623 0.0736 NA 0.0259 0.003 0.0225 0.07 NA 0.04 0.0041 0.0601 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.969275 2.969275 NA 0.060275 0.010682 NA NA NA 8.4726916 805 4 26585881 26585881 C T exonic TBC1D19 NA synonymous SNV TBC1D19:NM_018317:exon1:c.C66T:p.S22S exonic ENSG00000109680 NA synonymous SNV ENSG00000109680:ENST00000264866:exon1:c.C66T:p.S22S,ENSG00000109680:ENST00000505206:exon1:c.C66T:p.S22S,ENSG00000109680:ENST00000511789:exon1:c.C66T:p.S22S Score=389;Name=lod=51 NA 4p15.2 Score=838;Name=V$OCT1_Q6 Name=Pol2,ZNF263,KAP1,Pol2-4H8,TBP Name=6 NA rs4692549 0.31 0.31 0.295 0.313099 0.3946 0.3601 0.2795 0.1672 0.4018 0.4 0.35 0.31 0.14 0.3917 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.646821 1.646821 NA 0.408488 0.215842 NA 0.232 NA 8.4718786 805 3 52554304 52554304 G C exonic STAB1 NA nonsynonymous SNV STAB1:NM_015136:exon52:c.G5497C:p.A1833P exonic ENSG00000010327 NA nonsynonymous SNV ENSG00000010327:ENST00000321725:exon52:c.G5497C:p.A1833P NA NA 3p21.1 NA NA NA NA rs7630214 0.98 0.98 0.985 0.983227 0.9632 1 0.9784 0.997 0.9714 0.97 1 0.98 0.99 0.96 1 0.33 T 0.0 B 0.0 B 0.050 N 1.000 P -0.295 N -2.79 D -0.943 T 0.000 T 0.03 1.097 9.476 5.15 1.594 1.192 14.392 1.09692 NA 0.17 0.941279 0.988198 NA 0.993 NA 8.4688544 805 1 26664968 26664968 C T exonic AIM1L NA synonymous SNV AIM1L:NM_001039775:exon7:c.G3345A:p.L1115L exonic ENSG00000176092 NA synonymous SNV ENSG00000176092:ENST00000308182:exon6:c.G210A:p.L70L,ENSG00000176092:ENST00000527815:exon6:c.G723A:p.L241L Score=472;Name=lod=111 NA 1p36.11 NA NA NA NA rs11247919 0.3 0.3 0.296 0.286142 0.4284 0.0556 0.2161 0.4395 0.2198 0.45 0.04 0.23 0.42 0.355 0.45 . . . . . . . . 0.000 P . . . . -0.899 T 0.000 T . 2.465 14.2 4.1 1.140 0.883 10.496 2.465092 2.465092 NA 0.414884 0.432365 NA 0.304 NA 8.4683826 805 15 75499995 75499995 T G exonic C15orf39 NA nonsynonymous SNV C15orf39:NM_015492:exon2:c.T1606G:p.S536A exonic ENSG00000167173 NA nonsynonymous SNV ENSG00000167173:ENST00000567617:exon1:c.T1606G:p.S536A,ENSG00000167173:ENST00000360639:exon2:c.T1606G:p.S536A,ENSG00000167173:ENST00000394987:exon2:c.T1606G:p.S536A NA NA 15q24.2 Score=876;Name=V$NFE2_01 NA NA NA rs28509789 0.34 0.34 0.349 0.392372 0.2773 0.3264 0.4078 0.4697 0.4632 0.26 0.33 0.39 0.46 0.3163 0.46 0.77 T 0.0 B 0.001 B 0.213 N 1.000 P 0.895 L -1.37 T -0.993 T 0.000 T 0.139 -0.036 3.832 -3.54 -0.640 -0.873 0.270 -0.035507 NA 1 0.272251 0.445128 NA 0.29 NA 8.4674824 805 1 85113229 85113229 A G exonic SSX2IP NA nonsynonymous SNV SSX2IP:NM_001166294:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166295:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166293:exon14:c.T1732C:p.C578R,SSX2IP:NM_001166417:exon15:c.T1732C:p.C578R,SSX2IP:NM_014021:exon15:c.T1732C:p.C578R exonic ENSG00000117155 NA nonsynonymous SNV ENSG00000117155:ENST00000437941:exon13:c.T1651C:p.C551R,ENSG00000117155:ENST00000605755:exon13:c.T1651C:p.C551R,ENSG00000117155:ENST00000342203:exon14:c.T1732C:p.C578R Score=309;Name=lod=24 NA 1p22.3 NA NA NA NA rs1057746 0.56 0.56 0.526 0.51258 0.6521 0.7034 0.5346 0.2458 0.5174 0.66 0.7 0.55 0.24 0.5838 0.7 0.11 T 0.01 B 0.01 B 0.025 N 0.000 P 0.69 N 0.81 T -1.068 T 0.029 T 0.115 1.387 10.57 2.16 0.103 1.041 3.541 1.387185 1.387185 0.08 0.630814 0.294371 NA 0.522 NA 8.4666194 805 9 116136198 116136198 C T exonic HDHD3 NA nonsynonymous SNV HDHD3:NM_031219:exon2:c.G437A:p.G146E exonic ENSG00000119431 NA nonsynonymous SNV ENSG00000119431:ENST00000238379:exon2:c.G437A:p.G146E,ENSG00000119431:ENST00000374180:exon3:c.G437A:p.G146E NA NA 9q32 NA NA Name=5 NA rs1043836 0.56 0.56 0.557 0.586861 0.6233 0.4663 0.7017 0.4909 0.7219 0.63 0.44 0.67 0.53 0.6154 0.67 0.98 T 0.0 B 0.001 B 0.022 N 1.000 P -1.235 N 1.2 T -0.991 T 0.000 T 0.02 -2.447 0.003 -11.7 -3.303 -1.497 5.156 -2.446595 NA 1 0.629186 0.551294 NA 0.471 NA 8.4654474 805 5 156479426 156479426 T C exonic HAVCR1 NA nonsynonymous SNV HAVCR1:NM_012206:exon3:c.A619G:p.T207A,HAVCR1:NM_001099414:exon4:c.A619G:p.T207A,HAVCR1:NM_001173393:exon4:c.A619G:p.T207A exonic ENSG00000113249 NA nonsynonymous SNV ENSG00000113249:ENST00000339252:exon3:c.A619G:p.T207A,ENSG00000113249:ENST00000425854:exon3:c.A619G:p.T207A,ENSG00000113249:ENST00000518745:exon4:c.A619G:p.T207A,ENSG00000113249:ENST00000522693:exon4:c.A619G:p.T207A,ENSG00000113249:ENST00000523175:exon4:c.A619G:p.T207A,ENSG00000113249:ENST00000544197:exon4:c.A619G:p.T207A NA NA 5q33.3 NA Name=NANOG_(SC-33759) Name=2 NA rs12522248 0.23 0.23 0.216 0.226238 0.3042 0.1478 0.3386 0.1362 0.2689 0.3 0.15 0.35 0.13 0.2792 0.35 0.79 T 0.015 B 0.003 B 0.000 N 1.000 P 0 N 2.56 T -0.932 T 0.000 T 0.205 -0.522 1.618 1.05 0.509 -0.117 0.621 -0.522318 NA 0.26 0.284678 0.169665 NA NA NA 8.4652554 806 12 6887020 6887020 T C exonic LAG3 NA nonsynonymous SNV LAG3:NM_002286:exon7:c.T1364C:p.I455T exonic ENSG00000089692 NA nonsynonymous SNV ENSG00000089692:ENST00000203629:exon7:c.T1364C:p.I455T Score=278;Name=lod=18 NA 12p13.31 NA NA NA NA rs870849 0.66 0.66 0.619 0.669329 0.6093 0.8224 0.6816 0.5787 0.6871 0.6 0.82 0.67 0.58 0.6392 0.82 0.01 D 0.01 B 0.003 B 0.169 N 0.000 P 2.19 M 2.54 T -1.058 T 0.000 T 0.064 0.753 7.987 -1.58 -0.208 0.034 6.013 0.75253 NA 0.09 0.620581 0.555152 NA 0.63 NA 8.4642524 806 7 36445856 36445856 G A exonic ANLN NA nonsynonymous SNV ANLN:NM_018685:exon4:c.G554A:p.R185K exonic ENSG00000011426 NA nonsynonymous SNV ENSG00000011426:ENST00000265748:exon4:c.G554A:p.R185K,ENSG00000011426:ENST00000396068:exon4:c.G554A:p.R185K,ENSG00000011426:ENST00000424865:exon4:c.G488A:p.R163K NA NA 7p14.2 NA NA Name=37 NA rs197367 0.62 0.62 0.595 0.620607 0.6262 0.7153 0.6254 0.4145 0.7924 0.65 0.76 0.62 0.41 0.6503 0.76 1 T 0.0 B 0.0 B 0.013 N 1.000 P -2.175 N 4.08 T -0.945 T 0.000 T 0.019 -1.109 0.134 3.61 0.171 1.913 9.673 -1.109485 NA 1 0.593605 0.432592 NA 0.543 NA 8.4632284 806 9 107515214 107515214 G A exonic NIPSNAP3A NA nonsynonymous SNV NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q exonic ENSG00000136783 NA nonsynonymous SNV ENSG00000136783:ENST00000374767:exon3:c.G299A:p.R100Q Score=506;Name=lod=152 NA 9q31.1 NA NA NA NA rs2274870 0.65 0.65 0.685 0.63758 0.6173 0.5228 0.7118 0.7648 0.5521 0.61 0.55 0.69 0.77 0.618 0.77 0.1 T 0.95 P 0.675 P 0.000 N 0.071 P 3.295 M -0.28 T -0.945 T 0.000 T 0.081 4.18 21.6 1.26 0.243 0.876 6.559 4.179941 4.179941 0.04 0.636163 0.752837 NA 0.609 NA 8.4618704 806 16 88781614 88781614 G C exonic CTU2 NA nonsynonymous SNV CTU2:NM_001012762:exon14:c.G1444C:p.G482R exonic ENSG00000174177 NA nonsynonymous SNV ENSG00000174177:ENST00000312060:exon14:c.G1444C:p.G482R Score=289;Name=lod=20 NA 16q24.3 NA NA NA NA rs1058158 0.18 0.18 0.163 0.193091 0.3082 0.0913 0.1844 0.1021 0.3088 0.29 0.08 0.22 0.11 0.2588 0.31 0.46 T 0.322 B 0.136 B . . 0.000 P . . 2.55 T -0.891 T 0.000 T . 0.617 7.321 2.13 0.699 0.362 9.030 0.61697 NA 0.27 0.307289 0.133212 NA 0.188 NA 8.4590444 806 14 93412743 93412743 G A exonic ITPK1 NA synonymous SNV ITPK1:NM_001142593:exon10:c.C834T:p.F278F,ITPK1:NM_001142594:exon10:c.C834T:p.F278F,ITPK1:NM_014216:exon10:c.C834T:p.F278F exonic ENSG00000100605 NA synonymous SNV ENSG00000100605:ENST00000555495:exon8:c.C477T:p.F159F,ENSG00000100605:ENST00000267615:exon10:c.C834T:p.F278F,ENSG00000100605:ENST00000354313:exon10:c.C834T:p.F278F,ENSG00000100605:ENST00000556603:exon10:c.C834T:p.F278F Score=551;Name=lod=231 NA 14q32.12 NA Name=BRCA1_(C-1863),AP-2alpha,JunD,FOXA1_(C-20),Ini1,RFX5_(N-494) Name=105 NA rs2295394 0.09 0.09 0.093 0.108826 0.0606 0.2133 0.0461 0.0756 0.1401 0.05 0.2 0.05 0.07 0.0845 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.312988 1.312988 NA 0.063256 0.082842 NA 0.072 NA 8.4583106 806 17 72838649 72838649 C A exonic GRIN2C NA nonsynonymous SNV GRIN2C:NM_000835:exon13:c.G3627T:p.R1209S exonic ENSG00000161509 NA nonsynonymous SNV ENSG00000161509:ENST00000293190:exon13:c.G3627T:p.R1209S NA NA 17q25.1 Score=750;Name=V$SEF1_C NA NA NA rs3744215 0.31 0.31 0.312 0.289537 0.2942 0.381 0.1931 0.2852 0.2648 0.3 0.4 0.2 0.3 0.2987 0.4 0.04 D 0.001 B 0.001 B 0.726 N 0.000 P 0.805 L 2.84 T -0.907 T 0.000 T 0.068 2.632 14.76 -1.36 -0.045 0.514 3.608 2.631722 2.631722 NA 0.283104 0.307762 ID=COSM437337,COSM1479974;OCCURENCE=2(breast) 0.268 NA 8.4573294 806 16 56601720 56601720 A G exonic MT4 NA nonsynonymous SNV MT4:NM_032935:exon2:c.A89G:p.Y30C exonic ENSG00000102891 NA nonsynonymous SNV ENSG00000102891:ENST00000219162:exon2:c.A89G:p.Y30C Score=525;Name=lod=182 NA 16q12.2 NA NA NA NA rs666636 0.86 0.86 0.821 0.858427 0.9662 0.7183 0.9496 0.7595 0.9611 0.96 0.73 0.96 0.76 0.9351 0.98 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 3.38 T -0.938 T 0.000 T 0.389 0.492 6.668 5.73 1.449 4.767 10.951 0.491731 NA 1 0.975935 0.808584 NA NA NA 8.4560984 806 7 618938 618938 A G exonic PRKAR1B NA synonymous SNV PRKAR1B:NM_001164758:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164759:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164760:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164761:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164762:exon9:c.T846C:p.I282I,PRKAR1B:NM_002735:exon9:c.T846C:p.I282I exonic ENSG00000188191 NA synonymous SNV ENSG00000188191:ENST00000360274:exon9:c.T846C:p.I282I,ENSG00000188191:ENST00000403562:exon9:c.T846C:p.I282I,ENSG00000188191:ENST00000406797:exon9:c.T846C:p.I282I,ENSG00000188191:ENST00000430040:exon9:c.T846C:p.I282I,ENSG00000188191:ENST00000537384:exon9:c.T846C:p.I282I,ENSG00000188191:ENST00000544935:exon9:c.T846C:p.I282I NA NA 7p22.3 Score=771;Name=V$E2F_01 NA NA NA rs3211362 0.4 0.4 0.394 0.363618 0.4443 0.2688 0.3357 0.5408 0.1585 0.44 0.25 0.36 0.53 0.3689 0.53 . . . . . . . . 0.000 P . . . . -1.110 T 0.000 T . -0.335 2.413 -10.3 -2.912 -2.821 17.059 -0.334936 NA NA 0.398045 0.501362 NA 0.457 NA 8.4554216 807 16 58616984 58616984 T C exonic CNOT1 NA synonymous SNV CNOT1:NM_001265612:exon9:c.A909G:p.G303G,CNOT1:NM_016284:exon9:c.A909G:p.G303G,CNOT1:NM_206999:exon9:c.A909G:p.G303G exonic ENSG00000125107 NA synonymous SNV ENSG00000125107:ENST00000317147:exon9:c.A909G:p.G303G,ENSG00000125107:ENST00000441024:exon9:c.A909G:p.G303G,ENSG00000125107:ENST00000567188:exon9:c.A909G:p.G303G,ENSG00000125107:ENST00000569240:exon9:c.A909G:p.G303G Score=701;Name=lod=939 NA 16q21 Score=868;Name=V$TAL1BETAITF2_01 Name=CEBPB Name=6 NA rs17854029 0.22 0.22 0.202 0.202077 0.4264 0.0288 0.268 0.1218 0.2117 0.41 0.02 0.3 0.13 0.3379 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.460134 1.460134 NA 0.449186 0.187443 ID=COSM435466,COSM435467;OCCURENCE=1(breast) 0.232 NA 8.4531806 807 22 30771554 30771554 T G exonic CCDC157 NA nonsynonymous SNV CCDC157:NM_001017437:exon10:c.T1759G:p.S587A exonic ENSG00000187860 NA nonsynonymous SNV ENSG00000187860:ENST00000338306:exon10:c.T1759G:p.S587A,ENSG00000187860:ENST00000405659:exon10:c.T1759G:p.S587A Score=469;Name=lod=107 NA 22q12.2 NA NA NA NA rs2015035 0.98 0.98 0.978 0.986422 0.9612 1 0.9712 0.9985 0.9928 0.96 1 0.96 1 0.9684 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.955 N -1.06 T -0.935 T 0.000 T 0.233 3.152 16.54 5.24 1.223 4.139 13.418 3.152334 3.152334 0.01 0.951279 0.988425 NA 0.978 NA 8.4524544 807 11 7022531 7022531 A T exonic ZNF214 NA nonsynonymous SNV ZNF214:NM_013249:exon3:c.T383A:p.L128H exonic ENSG00000149050 NA nonsynonymous SNV ENSG00000149050:ENST00000278314:exon3:c.T383A:p.L128H,ENSG00000149050:ENST00000536068:exon4:c.T383A:p.L128H NA NA 11p15.4 NA NA NA NA rs1156525 0.61 0.61 0.576 0.575679 0.6223 0.7073 0.6268 0.357 0.6513 0.64 0.78 0.62 0.37 0.6266 0.78 0.6 T 0.0 B 0.0 B 0.489 N 1.000 P 0 N 3.28 T -1.033 T 0.000 T 0.084 -3.896 0.001 -3.27 -1.265 -1.814 2.265 -3.896005 NA 0.54 0.633644 0.4005 NA 0.486 NA 8.4507894 807 19 36594659 36594659 A T exonic WDR62 NA nonsynonymous SNV WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L exonic ENSG00000075702 NA nonsynonymous SNV ENSG00000075702:ENST00000270301:exon30:c.A3914T:p.Q1305L,ENSG00000075702:ENST00000401500:exon30:c.A3929T:p.Q1310L NA NA 19q13.12 NA Name=Pol2 NA NA rs2074435 0.73 0.73 0.742 0.729633 0.6252 0.7956 0.7392 0.8192 0.6411 0.63 0.8 0.7 0.83 0.6536 0.83 0.39 T 0.0 B 0.0 B 0.581 N 1.000 P -0.975 N 1.25 T -0.988 T 0.000 T 0.032 0.708 7.775 2.09 -0.055 0.511 2.656 0.708344 NA 0.51 0.605116 0.78325 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079454.1;CLNDSDB=.;CLNDSDBID=. 8.4494174 807 19 52004743 52004743 G A exonic SIGLEC12 NA nonsynonymous SNV SIGLEC12:NM_053003:exon1:c.C245T:p.A82V exonic ENSG00000254521 NA nonsynonymous SNV ENSG00000254521:ENST00000291707:exon1:c.C245T:p.A82V,ENSG00000254521:ENST00000596742:exon1:c.C245T:p.A82V NA NA 19q13.41 NA NA NA NA rs3810110 0.56 0.56 0.54 0.569489 0.6322 0.369 0.7248 0.5522 0.6247 0.64 0.37 0.7 0.55 0.6133 0.7 0.02 D 0.118 B 0.007 B . . 1.000 P 1.155 L 1.95 T -0.975 T 0.000 T 0.017 0.536 6.904 -3.74 -0.727 -1.317 0.722 0.536379 NA 0.13 0.640233 0.569905 ID=COSM148704;OCCURENCE=1(stomach) 0.536 NA 8.4476004 807 5 96139595 96139595 G A exonic ERAP1 NA nonsynonymous SNV ERAP1:NM_001040458:exon2:c.C35T:p.T12I,ERAP1:NM_001198541:exon2:c.C35T:p.T12I,ERAP1:NM_016442:exon2:c.C35T:p.T12I exonic ENSG00000164307 NA nonsynonymous SNV ENSG00000164307:ENST00000296754:exon2:c.C35T:p.T12I,ENSG00000164307:ENST00000443439:exon2:c.C35T:p.T12I,ENSG00000164307:ENST00000507154:exon3:c.C35T:p.T12I NA NA 5q15 NA NA NA NA rs72773968 0.07 0.07 0.058 0.0714856 0.1382 0.004 0.1643 0.0053 0.0961 0.13 0.0017 0.15 0.01 0.1113 0.15 0.25 T 0.741 P 0.372 B 0.542 N 1.000 P 0 N 5.03 T -1.008 T 0.000 T 0.303 1.943 12.45 2.49 0.211 0.728 14.431 1.943106 1.943106 0.06 0.136628 0.023604 NA 0.174 NA 8.4472054 807 13 113739226 113739226 T C exonic MCF2L NA synonymous SNV MCF2L:NM_001112732:exon19:c.T2082C:p.Y694Y,MCF2L:NM_024979:exon19:c.T2076C:p.Y692Y exonic ENSG00000126217 NA synonymous SNV ENSG00000126217:ENST00000375597:exon19:c.T2076C:p.Y692Y,ENSG00000126217:ENST00000375601:exon19:c.T2094C:p.Y698Y,ENSG00000126217:ENST00000375604:exon19:c.T2253C:p.Y751Y,ENSG00000126217:ENST00000397030:exon19:c.T2181C:p.Y727Y,ENSG00000126217:ENST00000421756:exon19:c.T2094C:p.Y698Y,ENSG00000126217:ENST00000423482:exon19:c.T2076C:p.Y692Y,ENSG00000126217:ENST00000434480:exon19:c.T2100C:p.Y700Y,ENSG00000126217:ENST00000442652:exon19:c.T2172C:p.Y724Y,ENSG00000126217:ENST00000535094:exon19:c.T2082C:p.Y694Y,ENSG00000126217:ENST00000375608:exon20:c.T2172C:p.Y724Y Score=587;Name=lod=323 NA 13q34 NA NA NA NA rs2281723 0.12 0.12 0.136 0.11222 0.0656 0.2649 0.0865 0.0764 0.0695 0.06 0.24 0.09 0.09 0.0845 0.24 . . . . . . . . 0.000 P . . . . . . . . . 1.052 9.298 -3.09 -0.859 0.321 15.265 1.052343 NA NA 0.070581 0.069451 NA 0.051 NA 8.4459856 807 1 248059703 248059703 T A exonic OR2W3 NA nonsynonymous SNV OR2W3:NM_001001957:exon1:c.T815A:p.M272K exonic ENSG00000238243 NA nonsynonymous SNV ENSG00000238243:ENST00000360358:exon1:c.T815A:p.M272K,ENSG00000238243:ENST00000537741:exon3:c.T815A:p.M272K NA NA 1q44 Score=835;Name=V$NFKB_Q6 NA NA NA rs11204545 0.51 0.51 0.484 0.478035 0.665 0.5893 0.4553 0.2648 0.4755 0.66 0.54 0.47 0.29 0.5747 0.66 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.59 N 8.92 T -1.028 T 0.000 T 0.087 -1.225 0.06 5.29 1.038 0.366 9.445 -1.225422 NA 1 0.648605 0.35724 NA 0.529 NA 8.4450284 808 8 22053701 22053701 T G intronic BMP1 NA NA NA exonic ENSG00000168487 NA stopgain ENSG00000168487:ENST00000397814:exon14:c.T1773G:p.Y591X,ENSG00000168487:ENST00000471755:exon14:c.T1773G:p.Y591X NA NA 8p21.3 NA NA NA NA rs80055120 0.01 0.01 0.016 0.0141773 0.0298 NA 0.0144 0.003 0.0276 0.02 NA 0.02 0.01 0.015 0.02 0.05 D . . . . . . 1.000 N . . . . . . . . . 2.98 15.94 -2.25 -0.518 -0.573 6.941 2.980307 2.980307 0.11 0.011301 0.002854 NA NA NA 8.443899 808 1 54060248 54060248 T C exonic GLIS1 NA nonsynonymous SNV GLIS1:NM_147193:exon3:c.A328G:p.T110A exonic ENSG00000174332 NA nonsynonymous SNV ENSG00000174332:ENST00000312233:exon3:c.A328G:p.T110A Score=423;Name=lod=70 NA 1p32.3 Score=807;Name=V$OLF1_01 NA NA NA rs4307514 0.21 0.21 0.207 0.214856 0.2962 0.1885 0.1599 0.1074 0.3425 0.3 0.2 0.18 0.12 0.2853 0.31 0.98 T 0.0 B 0.0 B 0.059 N 1.000 P 0 N 3.01 T -0.910 T 0.000 T 0.008 0.097 4.52 1.81 0.041 0.857 5.501 0.096571 NA NA 0.309737 0.107717 ID=COSM426461;OCCURENCE=1(breast) 0.174 NA 8.4420964 808 18 55104016 55104016 T C exonic ONECUT2 NA synonymous SNV ONECUT2:NM_004852:exon1:c.T1068C:p.F356F exonic ENSG00000119547 NA synonymous SNV ENSG00000119547:ENST00000491143:exon1:c.T1068C:p.F356F Score=731;Name=lod=1247 NA 18q21.31 NA Name=AP-2alpha,AP-2gamma Name=8 NA rs61735644 0.11 0.11 0.105 0.158347 0.0646 0.1448 0.147 0.2224 0.1902 0.06 0.13 0.1 0.18 0.1008 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90232 NA NA 0.059738 0.178588 ID=COSM1559502;OCCURENCE=2(central_nervous_system) 0.101 NA 8.4415286 808 11 86159223 86159223 C T exonic ME3 NA synonymous SNV ME3:NM_001014811:exon10:c.G1206A:p.V402V,ME3:NM_001161586:exon11:c.G1206A:p.V402V,ME3:NM_006680:exon11:c.G1206A:p.V402V exonic ENSG00000151376 NA synonymous SNV ENSG00000151376:ENST00000393324:exon10:c.G1206A:p.V402V,ENSG00000151376:ENST00000359636:exon11:c.G1206A:p.V402V,ENSG00000151376:ENST00000524826:exon11:c.G1206A:p.V402V,ENSG00000151376:ENST00000543262:exon11:c.G1206A:p.V402V Score=643;Name=lod=545 NA 11q14.2 Score=894;Name=V$OLF1_01 NA Name=4 NA rs34662182 0.04 0.04 0.037 0.0359425 0.0855 0.001 0.0591 0.003 0.0491 0.09 0.0017 0.07 0.0041 0.0604 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.173804 NA NA 0.079553 0.015441 ID=COSM429985;OCCURENCE=1(breast) 0.014 NA 8.4412136 808 12 68707287 68707287 G A exonic MDM1 NA nonsynonymous SNV MDM1:NM_001205028:exon11:c.C1550T:p.P517L,MDM1:NM_017440:exon11:c.C1655T:p.P552L exonic ENSG00000111554 NA nonsynonymous SNV ENSG00000111554:ENST00000540418:exon10:c.C815T:p.P272L,ENSG00000111554:ENST00000303145:exon11:c.C1655T:p.P552L,ENSG00000111554:ENST00000411698:exon11:c.C1550T:p.P517L NA NA 12q15 NA NA NA NA rs2306392 0.22 0.22 0.217 0.211462 0.3052 0.1736 0.2161 0.0726 0.3384 0.31 0.17 0.26 0.1 0.2748 0.31 . . 0.003 B 0.004 B 0.017 N 1.000 P 0.345 N 2.25 T -0.911 T 0.000 T 0.05 -0.687 1.012 2.23 0.258 3.017 9.831 -0.687468 NA 0.58 0.31314 0.126419 NA 0.268 NA 8.4401934 808 1 18808292 18808292 C A exonic KLHDC7A NA nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C817A:p.H273N exonic ENSG00000179023 NA nonsynonymous SNV ENSG00000179023:ENST00000400664:exon1:c.C817A:p.H273N Score=363;Name=lod=40 NA 1p36.13 NA NA NA NA rs2992753 0.72 0.72 0.721 0.672923 0.6113 0.8958 0.7277 0.6604 0.4847 0.62 0.91 0.7 0.67 0.6539 0.91 1 T 0.0 B 0.0 B 0.182 N 1.000 P -0.895 N -0.31 T -0.948 T 0.000 T 0.012 -1.498 0.017 4.92 0.717 2.560 10.544 -1.498345 NA 1 0.628721 0.665002 NA 0.587 NA 8.4394124 808 19 55143157 55143157 G A exonic LILRB1 NA nonsynonymous SNV LILRB1:NM_001081637:exon4:c.G277A:p.A93T,LILRB1:NM_001081638:exon4:c.G277A:p.A93T,LILRB1:NM_001081639:exon4:c.G277A:p.A93T,LILRB1:NM_006669:exon5:c.G277A:p.A93T exonic ENSG00000104972 NA nonsynonymous SNV ENSG00000104972:ENST00000396315:exon3:c.G277A:p.A93T,ENSG00000104972:ENST00000396317:exon3:c.G277A:p.A93T,ENSG00000104972:ENST00000396321:exon3:c.G277A:p.A93T,ENSG00000104972:ENST00000418536:exon3:c.G277A:p.A93T,ENSG00000104972:ENST00000421584:exon3:c.G277A:p.A93T,ENSG00000104972:ENST00000427581:exon3:c.G385A:p.A129T,ENSG00000104972:ENST00000448689:exon3:c.G277A:p.A93T,ENSG00000104972:ENST00000324602:exon4:c.G277A:p.A93T,ENSG00000104972:ENST00000396327:exon4:c.G277A:p.A93T,ENSG00000104972:ENST00000396332:exon4:c.G277A:p.A93T,ENSG00000104972:ENST00000434867:exon4:c.G277A:p.A93T,ENSG00000104972:ENST00000396331:exon5:c.G277A:p.A93T NA NA 19q13.42 NA NA NA NA rs12460501 0.17 0.17 0.113 0.213858 0.1312 0.505 0.232 0.0575 0.1973 0.09 0.4 0.16 0.04 0.1879 0.4 0.12 T 0.967 D 0.792 P 0.015 N 1.000 P 1.495 L 2.48 T -0.915 T 0.000 T 0.108 1.284 10.2 -0.338 -0.222 -0.346 5.539 1.283574 1.283574 0.11 0.074884 0.035406 NA NA NA 8.4393494 808 9 78506145 78506145 G A exonic PCSK5 NA synonymous SNV PCSK5:NM_001190482:exon1:c.G48A:p.L16L,PCSK5:NM_006200:exon1:c.G48A:p.L16L exonic ENSG00000099139 NA synonymous SNV ENSG00000099139:ENST00000376752:exon1:c.G48A:p.L16L,ENSG00000099139:ENST00000376767:exon1:c.G48A:p.L16L,ENSG00000099139:ENST00000545128:exon1:c.G48A:p.L16L Score=698;Name=lod=913 NA 9q21.13 Score=844;Name=V$AHRARNT_01 NA Name=54 NA rs7020560 0.1 0.1 0.101 0.116414 0.0825 NA 0.0476 0.3396 0.0184 0.08 NA 0.06 0.3 0.078 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687935 1.687935 NA 0.068536 0.290418 NA 0.123 NA 8.4376306 808 13 73350079 73350079 T C exonic DIS3 NA nonsynonymous SNV DIS3:NM_001128226:exon5:c.A716G:p.N239S,DIS3:NM_014953:exon5:c.A806G:p.N269S exonic ENSG00000083520 NA nonsynonymous SNV ENSG00000083520:ENST00000377767:exon5:c.A806G:p.N269S,ENSG00000083520:ENST00000377780:exon5:c.A716G:p.N239S,ENSG00000083520:ENST00000490646:exon5:c.A806G:p.N269S,ENSG00000083520:ENST00000545453:exon6:c.A320G:p.N107S NA NA 13q22.1 NA NA NA NA rs4883918 0.32 0.32 0.302 0.327077 0.2634 0.4534 0.4741 0.0825 0.4888 0.27 0.49 0.44 0.11 0.3363 0.49 0.75 T 0.0 B 0.0 B 0.180 N 1.000 P 0.805 L 2.09 T -0.938 T 0.000 T 0.018 -0.489 1.751 -8.07 -1.333 0.585 14.091 -0.489183 NA 0.5 0.296417 0.113987 NA 0.239 NA 8.4372164 809 10 106022789 106022789 C A exonic GSTO1 NA nonsynonymous SNV GSTO1:NM_001191003:exon4:c.C335A:p.A112D,GSTO1:NM_004832:exon4:c.C419A:p.A140D exonic ENSG00000148834 NA nonsynonymous SNV ENSG00000148834:ENST00000445155:exon3:c.C335A:p.A112D,ENSG00000148834:ENST00000369713:exon4:c.C419A:p.A140D,ENSG00000148834:ENST00000539281:exon4:c.C335A:p.A112D NA NA 10q25.1 NA NA NA NA rs4925 0.21 0.21 0.201 0.177316 0.337 0.13 0.2075 0.0696 0.1861 0.34 0.15 0.24 0.07 0.252 0.34 0.35 T 0.234 B 0.106 B 0.047 N 0.000 P -0.66 N 2.61 T -0.906 T 0.000 T 0.322 2.202 13.32 3.93 1.389 0.831 11.884 2.201635 2.201635 0.01 0.309884 0.109169 ID=COSM147037;OCCURENCE=1(stomach) 0.138 NA 8.4344494 809 1 248059712 248059712 T C exonic OR2W3 NA nonsynonymous SNV OR2W3:NM_001001957:exon1:c.T824C:p.M275T exonic ENSG00000238243 NA nonsynonymous SNV ENSG00000238243:ENST00000360358:exon1:c.T824C:p.M275T,ENSG00000238243:ENST00000537741:exon3:c.T824C:p.M275T Score=363;Name=lod=40 NA 1q44 NA NA NA NA rs11204546 0.51 0.51 0.484 0.479832 0.667 0.5903 0.4568 0.264 0.4816 0.66 0.54 0.47 0.29 0.5799 0.66 0.83 T 0.0 B 0.0 B 0.000 N 1.000 P -2.94 N 8.88 T -1.069 T 0.000 T 0.059 -1.352 0.028 5.29 1.488 0.343 13.231 -1.352137 NA 1 0.65314 0.358148 NA 0.536 NA 8.4332934 809 5 171481606 171481606 A G exonic STK10 NA synonymous SNV STK10:NM_005990:exon17:c.T2619C:p.C873C exonic ENSG00000072786 NA synonymous SNV ENSG00000072786:ENST00000176763:exon17:c.T2619C:p.C873C Score=535;Name=lod=199 NA 5q35.1 NA NA NA NA rs10155597 0.42 0.42 0.431 0.390575 0.4165 0.3978 0.3271 0.472 0.2914 0.42 0.41 0.37 0.45 0.3937 0.47 . . . . . . . . 0.000 P . . . . -1.074 T 0.000 T . 0.868 8.518 -5.08 -1.705 -0.690 16.206 0.868179 NA NA 0.425233 0.467998 NA 0.435 NA 8.4312336 809 1 34090679 34090679 T C exonic CSMD2 NA synonymous SNV CSMD2:NM_052896:exon34:c.A5352G:p.Q1784Q exonic ENSG00000121904 NA synonymous SNV ENSG00000121904:ENST00000373380:exon13:c.A2091G:p.Q697Q,ENSG00000121904:ENST00000241312:exon34:c.A5352G:p.Q1784Q,ENSG00000121904:ENST00000373381:exon34:c.A5472G:p.Q1824Q Score=503;Name=lod=147 NA 1p35.1 NA Name=CTCFL_(SC-98982),E2F6_(H-50),SMC3_(ab9263),Egr-1,CTCF_(SC-5916),CTCF_(C-20),Rad21,CTCF Name=9 NA rs16835683 0.08 0.08 0.082 0.0948482 0.0845 0.1538 0.0418 0.0749 0.1094 0.08 0.13 0.04 0.07 0.0775 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.456902 1.456902 NA 0.075 0.065592 NA 0.072 NA 8.4296666 809 1 201973565 201973565 G A exonic RNPEP NA nonsynonymous SNV RNPEP:NM_020216:exon10:c.G1735A:p.V579I exonic ENSG00000176393 NA nonsynonymous SNV ENSG00000176393:ENST00000367286:exon9:c.G1618A:p.V540I,ENSG00000176393:ENST00000295640:exon10:c.G1735A:p.V579I NA NA 1q32.1 NA NA NA NA rs3820439 0.31 0.31 0.303 0.33107 0.2942 0.3968 0.2435 0.2224 0.5102 0.31 0.39 0.29 0.23 0.3259 0.39 0.21 T 0.018 B 0.027 B 0.008 N 1.000 P 1.465 L 0.94 T -0.956 T 0.000 T 0.029 0.844 8.411 2.54 0.635 1.254 6.141 0.8441 NA 0.35 0.283721 0.256468 NA 0.203 NA 8.4295124 809 12 6839913 6839913 C T exonic COPS7A NA synonymous SNV COPS7A:NM_001164093:exon6:c.C715T:p.L239L,COPS7A:NM_001164094:exon7:c.C715T:p.L239L,COPS7A:NM_001164095:exon7:c.C715T:p.L239L,COPS7A:NM_016319:exon7:c.C715T:p.L239L exonic ENSG00000111652 NA synonymous SNV ENSG00000111652:ENST00000534947:exon6:c.C715T:p.L239L,ENSG00000111652:ENST00000229251:exon7:c.C715T:p.L239L,ENSG00000111652:ENST00000534877:exon7:c.C715T:p.L239L,ENSG00000111652:ENST00000539735:exon7:c.C715T:p.L239L,ENSG00000111652:ENST00000543155:exon7:c.C715T:p.L239L Score=516;Name=lod=166 NA 12p13.31 Score=877;Name=V$SREBP1_01 NA Name=5 NA rs2286730 0.12 0.12 0.136 0.109824 0.0656 0.0694 0.0591 0.2632 0.0256 0.07 0.06 0.08 0.29 0.0815 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781054 NA NA 0.091047 0.232864 NA 0.152 NA 8.4285196 809 2 231333763 231333763 A G exonic SP100 NA nonsynonymous SNV SP100:NM_001206703:exon13:c.A1213G:p.M405V,SP100:NM_001080391:exon14:c.A1297G:p.M433V,SP100:NM_001206701:exon14:c.A1297G:p.M433V,SP100:NM_001206702:exon14:c.A1297G:p.M433V,SP100:NM_003113:exon14:c.A1297G:p.M433V,SP100:NM_001206704:exon15:c.A1192G:p.M398V exonic ENSG00000067066 NA nonsynonymous SNV ENSG00000067066:ENST00000452345:exon5:c.A292G:p.M98V,ENSG00000067066:ENST00000409824:exon13:c.A1222G:p.M408V,ENSG00000067066:ENST00000427101:exon13:c.A1213G:p.M405V,ENSG00000067066:ENST00000264052:exon14:c.A1297G:p.M433V,ENSG00000067066:ENST00000340126:exon14:c.A1297G:p.M433V,ENSG00000067066:ENST00000341950:exon14:c.A1297G:p.M433V,ENSG00000067066:ENST00000409112:exon14:c.A1297G:p.M433V,ENSG00000067066:ENST00000409341:exon14:c.A1297G:p.M433V,ENSG00000067066:ENST00000409897:exon15:c.A1192G:p.M398V NA NA 2q37.1 NA NA NA NA rs12724 0.18 0.18 0.174 0.179912 0.3221 0.0635 0.1729 0.0688 0.3088 0.31 0.06 0.19 0.1 0.2623 0.32 0.48 T 0.0 B 0.0 B . . 1.000 P 0.805 L 2.48 T -1.039 T 0.000 T 0.305 -2.414 0.003 -4.21 -1.007 -0.538 0.246 -2.414046 NA 0.32 0.32147 0.099864 NA 0.138 NA 8.4274634 809 19 52004903 52004903 G A exonic SIGLEC12 NA stopgain SIGLEC12:NM_053003:exon1:c.C85T:p.Q29X exonic ENSG00000254521 NA stopgain ENSG00000254521:ENST00000291707:exon1:c.C85T:p.Q29X,ENSG00000254521:ENST00000596742:exon1:c.C85T:p.Q29X NA NA 19q13.41 NA NA NA NA rs16982743 0.19 0.19 0.197 0.185903 0.2038 0.0427 0.1297 0.3676 0.1094 0.19 0.05 0.15 0.36 0.1797 0.36 0 D . . . . . . 0.000 P . . . . . . . . . 2.623 14.73 0.297 0.150 0.887 5.304 2.622978 2.622978 0.08 0.189651 0.318656 NA 0.312 NA 8.426849 809 7 44259871 44259871 C T exonic CAMK2B NA synonymous SNV CAMK2B:NM_172084:exon15:c.G1140A:p.P380P,CAMK2B:NM_172083:exon17:c.G1230A:p.P410P,CAMK2B:NM_172081:exon18:c.G1302A:p.P434P,CAMK2B:NM_172079:exon19:c.G1347A:p.P449P,CAMK2B:NM_172080:exon19:c.G1344A:p.P448P,CAMK2B:NM_172082:exon19:c.G1269A:p.P423P,CAMK2B:NM_172078:exon20:c.G1419A:p.P473P,CAMK2B:NM_001220:exon23:c.G1791A:p.P597P exonic ENSG00000058404 NA synonymous SNV ENSG00000058404:ENST00000425809:exon4:c.G345A:p.P115P,ENSG00000058404:ENST00000346990:exon15:c.G1140A:p.P380P,ENSG00000058404:ENST00000353625:exon17:c.G1230A:p.P410P,ENSG00000058404:ENST00000358707:exon18:c.G1302A:p.P434P,ENSG00000058404:ENST00000258682:exon19:c.G1344A:p.P448P,ENSG00000058404:ENST00000347193:exon19:c.G1269A:p.P423P,ENSG00000058404:ENST00000395747:exon19:c.G1347A:p.P449P,ENSG00000058404:ENST00000457475:exon19:c.G1347A:p.P449P,ENSG00000058404:ENST00000350811:exon20:c.G1419A:p.P473P,ENSG00000058404:ENST00000440254:exon20:c.G1419A:p.P473P,ENSG00000058404:ENST00000395749:exon23:c.G1791A:p.P597P Score=572;Name=lod=282 Name=Metabolic syndrome 7p13 Score=764;Name=V$PAX5_02 Name=NRSF NA NA rs1127065 0.35 0.35 0.329 0.341653 0.4076 0.3998 0.3213 0.1694 0.4611 0.42 0.4 0.33 0.19 0.4064 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.617115 1.617115 NA 0.427093 0.227871 ID=COSM453109;OCCURENCE=1(breast) 0.275 NA 8.4255736 810 20 48522330 48522330 G A exonic SPATA2 NA synonymous SNV SPATA2:NM_001135773:exon3:c.C1389T:p.C463C,SPATA2:NM_006038:exon3:c.C1389T:p.C463C exonic ENSG00000158480 NA synonymous SNV ENSG00000158480:ENST00000543716:exon2:c.C978T:p.C326C,ENSG00000158480:ENST00000289431:exon3:c.C1389T:p.C463C,ENSG00000158480:ENST00000422556:exon3:c.C1389T:p.C463C Score=488;Name=lod=128 Name=Psoriasis 20q13.13 Score=743;Name=V$MYOGNF1_01 NA Name=5 NA rs495337 0.33 0.33 0.267 0.358027 0.3976 0.3403 0.464 0.0991 0.6104 0.41 0.35 0.43 0.11 0.4312 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042319 NA NA 0.412907 0.136632 NA 0.283 NA 8.4249596 810 18 13069782 13069782 C T exonic CEP192 NA nonsynonymous SNV CEP192:NM_032142:exon27:c.C5101T:p.L1701F exonic ENSG00000101639 NA nonsynonymous SNV ENSG00000101639:ENST00000430049:exon17:c.C3676T:p.L1226F,ENSG00000101639:ENST00000510237:exon18:c.C3901T:p.L1301F,ENSG00000101639:ENST00000325971:exon25:c.C3313T:p.L1105F,ENSG00000101639:ENST00000506447:exon27:c.C5101T:p.L1701F Score=458;Name=lod=97 NA 18p11.21 NA NA NA NA rs6505780 0.75 0.75 0.784 0.770168 0.6193 0.8105 0.6455 0.9486 0.7311 0.62 0.81 0.66 0.94 0.6697 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.745 N 0.96 T -0.955 T 0.000 T 0.057 -0.382 2.206 5.47 0.927 2.323 10.456 -0.3818 NA NA 0.619651 0.881979 NA 0.703 NA 8.4246824 810 17 19232078 19232078 T C exonic EPN2 NA nonsynonymous SNV EPN2:NM_001102664:exon5:c.T347C:p.V116A,EPN2:NM_148921:exon7:c.T1031C:p.V344A,EPN2:NM_014964:exon8:c.T1202C:p.V401A exonic ENSG00000072134 NA nonsynonymous SNV ENSG00000072134:ENST00000395618:exon5:c.T347C:p.V116A,ENSG00000072134:ENST00000395620:exon5:c.T1031C:p.V344A,ENSG00000072134:ENST00000494192:exon5:c.T329C:p.V110A,ENSG00000072134:ENST00000571254:exon5:c.T1010C:p.V337A,ENSG00000072134:ENST00000575595:exon5:c.T326C:p.V109A,ENSG00000072134:ENST00000395626:exon6:c.T1202C:p.V401A,ENSG00000072134:ENST00000347697:exon7:c.T1031C:p.V344A,ENSG00000072134:ENST00000395628:exon7:c.T1031C:p.V344A,ENSG00000072134:ENST00000314728:exon8:c.T1202C:p.V401A Score=243;Name=lod=13 NA 17p11.2 Score=812;Name=V$GRE_C NA NA NA rs6587220 0.95 0.95 0.963 0.903355 0.994 0.8542 0.8746 0.9992 0.7515 0.99 0.87 0.89 1 0.9276 1 0.55 T 0.0 B 0.0 B 0.417 N 1.000 P -0.695 N 2.56 T -0.983 T 0.000 T 0.191 0.307 5.665 3.11 0.266 2.215 11.127 0.307242 NA 0.28 0.988256 0.992964 NA 0.978 NA 8.4234774 810 11 116662331 116662331 G T exonic APOA5 NA synonymous SNV APOA5:NM_001166598:exon3:c.C132A:p.I44I,APOA5:NM_052968:exon3:c.C132A:p.I44I exonic ENSG00000110243 NA synonymous SNV ENSG00000110243:ENST00000227665:exon2:c.C132A:p.I44I,ENSG00000110243:ENST00000433069:exon3:c.C132A:p.I44I,ENSG00000110243:ENST00000542499:exon3:c.C132A:p.I44I Score=376;Name=lod=45 NA 11q23.3 NA Name=Pol2,TAF1,ZNF263 Name=2 NA rs12287066 0.07 0.07 0.063 0.090655 0.0676 NA 0.1369 0.1899 0.0409 0.06 NA 0.1 0.16 0.1097 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231752 NA NA 0.067621 0.170305 NA 0.065 NA 8.4217456 810 1 54060016 54060016 G C exonic GLIS1 NA nonsynonymous SNV GLIS1:NM_147193:exon3:c.C560G:p.A187G exonic ENSG00000174332 NA nonsynonymous SNV ENSG00000174332:ENST00000312233:exon3:c.C560G:p.A187G NA NA 1p32.3 NA Name=SMC3_(ab9263),CTCF_(SC-5916),CTCF,TBP,Rad21 Name=24 NA rs35227000 0.22 0.22 0.248 0.213658 0.2962 0.1885 0.1643 0.1104 0.3292 0.3 0.2 0.19 0.13 0.2893 0.33 0.36 T 0.0 B 0.001 B 0.336 N 1.000 P 0.895 L 2.83 T -0.904 T 0.000 T 0.064 0.958 8.908 -1.17 -0.010 0.042 5.974 0.958011 NA NA 0.327324 0.125114 NA 0.138 NA 8.4205094 810 12 40713901 40713901 T A exonic LRRK2 NA nonsynonymous SNV LRRK2:NM_198578:exon34:c.T4939A:p.S1647T exonic ENSG00000188906 NA nonsynonymous SNV ENSG00000188906:ENST00000298910:exon34:c.T4939A:p.S1647T Score=685;Name=lod=811 NA 12q12 NA NA NA NA rs11564148 0.28 0.28 0.253 0.285942 0.3171 0.3373 0.2349 0.174 0.3885 0.33 0.33 0.23 0.17 0.2983 0.33 0.62 T 0.0 B 0.0 B 0.209 N 0.000 P 0.6 N -0.61 T -1.033 T 0.000 T 0.17 0.926 8.769 0.447 -0.154 0.833 2.541 0.925573 NA 1 0.298068 0.178945 NA 0.109 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=single;CLNACC=RCV000032475.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 8.4198654 810 11 28134974 28134974 C A exonic METTL15 NA nonsynonymous SNV METTL15:NM_001113528:exon3:c.C93A:p.N31K,METTL15:NM_152636:exon3:c.C93A:p.N31K exonic ENSG00000169519 NA nonsynonymous SNV ENSG00000169519:ENST00000303459:exon2:c.C93A:p.N31K,ENSG00000169519:ENST00000379199:exon2:c.C93A:p.N31K,ENSG00000169519:ENST00000437814:exon2:c.C93A:p.N31K,ENSG00000169519:ENST00000342303:exon3:c.C93A:p.N31K,ENSG00000169519:ENST00000403099:exon3:c.C93A:p.N31K,ENSG00000169519:ENST00000406787:exon3:c.C93A:p.N31K,ENSG00000169519:ENST00000407364:exon3:c.C93A:p.N31K,ENSG00000169519:ENST00000451385:exon3:c.C93A:p.N31K NA NA 11p14.1 NA NA NA NA rs11553132 0.53 0.53 0.521 0.604034 0.4364 0.756 0.3905 0.764 0.5552 0.38 0.7 0.36 0.67 0.4775 0.7 1 T 0.0 B 0.0 B 0.043 N 1.000 P . . 2.1 T -1.002 T 0.000 T 0.028 -2.406 0.003 -3.88 -1.457 0.395 7.620 -2.405788 NA 1 NA NA NA 0.565 NA 8.4194334 810 6 90340446 90340446 C T exonic ANKRD6 NA nonsynonymous SNV ANKRD6:NM_001242814:exon13:c.C1715T:p.P572L,ANKRD6:NM_001242813:exon15:c.C1802T:p.P601L,ANKRD6:NM_001242809:exon16:c.C1907T:p.P636L,ANKRD6:NM_001242811:exon16:c.C1907T:p.P636L,ANKRD6:NM_014942:exon16:c.C1892T:p.P631L exonic ENSG00000135299 NA nonsynonymous SNV ENSG00000135299:ENST00000520793:exon13:c.C1715T:p.P572L,ENSG00000135299:ENST00000369408:exon15:c.C1802T:p.P601L,ENSG00000135299:ENST00000339746:exon16:c.C1907T:p.P636L,ENSG00000135299:ENST00000447838:exon16:c.C1892T:p.P631L,ENSG00000135299:ENST00000522441:exon16:c.C1907T:p.P636L NA NA 6q15 NA NA NA NA rs61739327 0.08 0.08 0.068 0.0888578 0.1551 0.0476 0.0865 0.0053 0.1779 0.14 0.04 0.07 0.01 0.1202 0.14 0.15 T 0.808 P 0.394 B 0.107 N 1.000 P 1.39 L 1.16 T -1.034 T 0.112 T 0.146 0.675 7.613 1.64 0.668 1.040 7.707 0.675206 NA 0.03 0.139224 0.02424 NA 0.123 NA 8.4188094 810 4 69681848 69681848 T C exonic UGT2B10 NA synonymous SNV UGT2B10:NM_001075:exon1:c.T111C:p.N37N,UGT2B10:NM_001144767:exon1:c.T111C:p.N37N exonic ENSG00000109181 NA synonymous SNV ENSG00000109181:ENST00000265403:exon1:c.T111C:p.N37N,ENSG00000109181:ENST00000458688:exon1:c.T111C:p.N37N Score=389;Name=lod=51 NA 4q13.2 NA Name=FOXA2_(SC-6554),HEY1,TBP,SP1,TCF4 Name=5 NA rs61749966 0.05 0.05 0.05 0.0439297 0.0915 0.001 0.072 0.0356 0.0307 0.1 NA 0.07 0.03 0.0655 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.011318 NA NA 0.091713 0.041761 NA 0.109 NA 8.4179536 810 16 30518041 30518041 G C exonic ITGAL NA nonsynonymous SNV ITGAL:NM_001114380:exon19:c.G2120C:p.R707T,ITGAL:NM_002209:exon21:c.G2372C:p.R791T exonic ENSG00000005844 NA nonsynonymous SNV ENSG00000005844:ENST00000568926:exon4:c.G276C:p.Q92H,ENSG00000005844:ENST00000358164:exon19:c.G2120C:p.R707T,ENSG00000005844:ENST00000356798:exon21:c.G2372C:p.R791T NA NA 16p11.2 NA NA NA NA rs2230433 0.25 0.25 0.281 0.364018 0.3012 0.1339 0.1888 0.4206 0.7137 0.29 0.09 0.2 0.41 0.3254 0.42 0.29 T 0.001 B 0.002 B 0.357 N 1.000 P 1.245 L 0.97 T -1.030 T 0.000 T 0.035 3.308 17.12 -10.4 -1.940 -1.370 6.162 3.307785 3.307785 0.07 0.290465 0.415794 ID=COSM148068;OCCURENCE=1(stomach) 0.319 NA 8.4162684 810 16 55562466 55562466 G A exonic LPCAT2 NA nonsynonymous SNV LPCAT2:NM_017839:exon3:c.G489A:p.M163I exonic ENSG00000087253 NA nonsynonymous SNV ENSG00000087253:ENST00000262134:exon3:c.G489A:p.M163I NA NA 16q12.2 NA NA NA NA rs837550 0.52 0.52 0.512 0.517772 0.6461 0.4296 0.621 0.3389 0.6452 0.66 0.44 0.6 0.34 0.619 0.66 1 T 0.0 B 0.001 B 0.077 N 1.000 P -1.105 N -3.13 D -1.001 T 0.000 T 0.183 -1.748 0.01 -3.8 -0.392 -1.098 7.519 -1.747828 NA 1 0.652674 0.382848 NA 0.449 NA 8.4155594 811 21 22881251 22881251 A G exonic NCAM2 NA synonymous SNV NCAM2:NM_004540:exon16:c.A2157G:p.T719T exonic ENSG00000154654 NA synonymous SNV ENSG00000154654:ENST00000284894:exon13:c.A1731G:p.T577T,ENSG00000154654:ENST00000400546:exon16:c.A2157G:p.T719T Score=436;Name=lod=79 NA 21q21.1 Score=869;Name=V$CREBP1_Q2 Name=GATA3_(SC-268) NA NA rs2017705 0.15 0.15 0.145 0.180112 0.0557 0.1111 0.1484 0.3132 0.2219 0.06 0.12 0.16 0.34 0.127 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.347582 1.347582 NA 0.069885 0.275253 NA 0.152 NA 8.4140816 811 20 62038277 62038277 T G exonic KCNQ2 NA nonsynonymous SNV KCNQ2:NM_004518:exon15:c.A2255C:p.N752T,KCNQ2:NM_172106:exon16:c.A2285C:p.N762T,KCNQ2:NM_172108:exon16:c.A2246C:p.N749T,KCNQ2:NM_172107:exon17:c.A2339C:p.N780T exonic ENSG00000075043 NA nonsynonymous SNV ENSG00000075043:ENST00000360480:exon15:c.A2255C:p.N752T,ENSG00000075043:ENST00000344462:exon16:c.A2327C:p.N776T,ENSG00000075043:ENST00000357249:exon16:c.A2285C:p.N762T,ENSG00000075043:ENST00000370224:exon16:c.A2363C:p.N788T,ENSG00000075043:ENST00000370226:exon16:c.A2249C:p.N750T,ENSG00000075043:ENST00000430658:exon16:c.A2246C:p.N749T,ENSG00000075043:ENST00000354587:exon17:c.A2363C:p.N788T,ENSG00000075043:ENST00000359125:exon17:c.A2339C:p.N780T,ENSG00000075043:ENST00000359689:exon18:c.A2339C:p.N780T Score=539;Name=lod=207 NA 20q13.33 NA NA NA NA rs1801475 0.59 0.59 0.54 0.590455 0.6382 0.6687 0.5519 0.4629 0.6605 0.65 0.63 0.57 0.46 0.6372 0.65 0.38 T 0.0 B 0.0 B 0.021 N 0.000 P 0 N 0.96 T -0.956 T 0.000 T 0.013 -0.249 2.801 0.092 -0.549 1.872 7.214 -0.24908 NA 0.28 0.643872 0.509853 NA 0.58 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Benign_familial_neonatal_seizures_1|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000020987.1|RCV000082686.2|RCV000126472.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.|.;CLNDSDBID=NBK32534:C1852587:121200:ORPHA1949|.|. 8.4140614 811 6 53989526 53989526 G A exonic MLIP NA nonsynonymous SNV MLIP:NM_138569:exon3:c.G475A:p.V159I exonic ENSG00000146147 NA nonsynonymous SNV ENSG00000146147:ENST00000370876:exon2:c.G289A:p.V97I,ENSG00000146147:ENST00000370877:exon2:c.G319A:p.V107I,ENSG00000146147:ENST00000503951:exon2:c.G352A:p.V118I,ENSG00000146147:ENST00000509997:exon2:c.G319A:p.V107I,ENSG00000146147:ENST00000274897:exon3:c.G475A:p.V159I,ENSG00000146147:ENST00000358276:exon3:c.G457A:p.V153I,ENSG00000146147:ENST00000447836:exon3:c.G121A:p.V41I,ENSG00000146147:ENST00000502396:exon3:c.G508A:p.V170I,ENSG00000146147:ENST00000511678:exon3:c.G121A:p.V41I,ENSG00000146147:ENST00000514433:exon3:c.G478A:p.V160I,ENSG00000146147:ENST00000514921:exon3:c.G475A:p.V159I NA NA 6p12.1 Score=806;Name=V$PPARG_03 NA NA NA rs4712056 0.61 0.61 0.622 0.615615 0.6491 0.7331 0.5115 0.4667 0.7352 0.65 0.73 0.52 0.45 0.6302 0.73 . . 0.187 B 0.037 B 0.396 N 1.000 P 0.69 N 1.4 T -1.053 T 0.014 T 0.194 0.629 7.384 -7.97 -1.268 -0.711 1.127 0.629414 NA 0.33 0.640116 0.501816 NA 0.667 NA 8.4139174 811 17 76497920 76497920 C A exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon34:c.G5226T:p.M1742I exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon34:c.G5193T:p.M1731I,ENSG00000187775:ENST00000585328:exon34:c.G5217T:p.M1739I Score=383;Name=lod=48 NA 17q25.3 NA NA NA NA rs690844 0.74 0.74 0.713 0.738818 0.6213 0.9435 0.7608 0.6823 0.7096 0.63 0.94 0.71 0.68 0.6823 0.94 0.58 T . . . . . . 0.988 P . . 1.96 T -1.025 T 0.000 T 0.021 0.098 4.531 -2.49 -0.505 -1.454 6.363 0.098492 NA 0.28 0.616309 0.695155 NA 0.79 NA 8.4134244 811 15 99678257 99678257 G A exonic TTC23 NA synonymous SNV TTC23:NM_001040656:exon11:c.C1302T:p.D434D,TTC23:NM_001040659:exon11:c.C1302T:p.D434D,TTC23:NM_001040657:exon12:c.C1302T:p.D434D,TTC23:NM_001040658:exon12:c.C1302T:p.D434D,TTC23:NM_001040660:exon12:c.C1302T:p.D434D,TTC23:NM_001040655:exon13:c.C1302T:p.D434D,TTC23:NM_022905:exon13:c.C1302T:p.D434D exonic ENSG00000103852 NA synonymous SNV ENSG00000103852:ENST00000558613:exon11:c.C1302T:p.D434D,ENSG00000103852:ENST00000262074:exon12:c.C1302T:p.D434D,ENSG00000103852:ENST00000394135:exon12:c.C1302T:p.D434D,ENSG00000103852:ENST00000558663:exon12:c.C1302T:p.D434D,ENSG00000103852:ENST00000394136:exon13:c.C1302T:p.D434D,ENSG00000103852:ENST00000394132:exon14:c.C1302T:p.D434D NA NA 15q26.3 NA NA NA NA rs28617660 0.13 0.13 0.143 0.144569 0.0805 0.0486 0.0677 0.348 0.089 0.09 0.05 0.06 0.33 0.0949 0.33 . . . . . . . . 1.000 P . . . . -0.979 T 0.000 T . 0.508 6.755 2.89 0.540 1.861 7.434 0.508122 NA NA 0.077993 0.292175 NA 0.087 NA 8.4132736 811 17 45364540 45364540 T C exonic ITGB3 NA synonymous SNV ITGB3:NM_000212:exon6:c.T882C:p.P294P exonic ENSG00000259207,ENSG00000259753 NA synonymous SNV ENSG00000259207:ENST00000435993:exon6:c.T741C:p.P247P,ENSG00000259207:ENST00000559488:exon6:c.T882C:p.P294P,ENSG00000259207:ENST00000571680:exon6:c.T882C:p.P294P Score=566;Name=lod=267 NA 17q21.32 NA Name=CTCF_(C-20),Rad21,EBF1_(C-8),CTCF,IRF4_(M-17) Name=6 NA rs5919 0.13 0.13 0.117 0.14397 0.0765 0.2262 0.0908 0.1498 0.1585 0.06 0.24 0.11 0.14 0.1029 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.428952 1.428952 NA 0.074535 0.144349 NA 0.109 NA 8.4127316 811 6 27425185 27425185 C A exonic ZNF184 NA nonsynonymous SNV ZNF184:NM_007149:exon4:c.G79T:p.A27S exonic ENSG00000096654 NA nonsynonymous SNV ENSG00000096654:ENST00000211936:exon4:c.G79T:p.A27S,ENSG00000096654:ENST00000377419:exon4:c.G79T:p.A27S Score=498;Name=lod=141 NA 6p22.1 NA NA NA NA rs1883216 0.59 0.59 0.586 0.618211 0.6451 0.5774 0.6715 0.531 0.7127 0.64 0.55 0.65 0.51 0.6415 0.65 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.28 N 5.77 T -1.039 T 0.000 T 0.065 -0.248 2.806 3.17 0.449 1.456 3.768 -0.248095 NA 0.69 0.634186 0.534498 NA 0.565 NA 8.4125474 811 6 116575116 116575116 G T exonic TSPYL4 NA nonsynonymous SNV TSPYL4:NM_021648:exon1:c.C56A:p.A19D exonic ENSG00000187189 NA nonsynonymous SNV ENSG00000187189:ENST00000420283:exon1:c.C56A:p.A19D NA NA 6q22.1 NA Name=POU2F2,SREBP1,Pol2-4H8,Sin3Ak-20,Pol2(phosphoS2),Pol2,Oct-2,ELF1_(SC-631) NA NA rs17524614 0.13 0.13 0.083 0.101637 0.1501 0.1101 0.2089 0.0106 0.09 0.16 0.12 0.2 0.02 0.1489 0.2 0.07 T 0.779 P 0.235 B . . 1.000 P 1.735 L 1.72 T -1.048 T 0.021 T 0.067 1.911 12.35 1.34 0.285 0.137 4.128 1.911171 1.911171 0.07 0.122735 0.027411 NA 0.051 NA 8.4115984 811 5 135287029 135287029 T C exonic LECT2 NA nonsynonymous SNV LECT2:NM_002302:exon3:c.A172G:p.I58V exonic ENSG00000145826 NA nonsynonymous SNV ENSG00000145826:ENST00000274507:exon3:c.A172G:p.I58V,ENSG00000145826:ENST00000514447:exon3:c.A172G:p.I58V,ENSG00000145826:ENST00000522943:exon3:c.A172G:p.I58V Score=363;Name=lod=40 NA 5q31.1 NA Name=GR NA NA rs31517 0.63 0.63 0.585 0.636382 0.6412 0.6478 0.696 0.5484 0.6963 0.65 0.63 0.67 0.56 0.6445 0.67 1 T 0.0 B 0.001 B 0.002 N 0.000 P -0.63 N 0.61 T -0.904 T 0.000 T 0.061 0.413 6.245 3.33 -0.028 0.461 12.606 0.413265 NA 0.62 0.636279 0.578756 ID=COSM1130934;OCCURENCE=1(prostate) 0.5 NA 8.4113544 811 10 18266989 18266989 G A exonic SLC39A12 NA nonsynonymous SNV SLC39A12:NM_001145195:exon5:c.G910A:p.V304I,SLC39A12:NM_152725:exon5:c.G910A:p.V304I exonic ENSG00000148482 NA nonsynonymous SNV ENSG00000148482:ENST00000539911:exon4:c.G508A:p.V170I,ENSG00000148482:ENST00000377369:exon5:c.G910A:p.V304I,ENSG00000148482:ENST00000377371:exon5:c.G910A:p.V304I,ENSG00000148482:ENST00000377374:exon5:c.G910A:p.V304I NA NA 10p12.33 NA NA NA NA rs2478568 0.66 0.66 0.651 0.664736 0.6322 0.6627 0.6888 0.6195 0.7444 0.63 0.68 0.69 0.64 0.6587 0.69 0.21 T 0.0 B 0.001 B 0.000 N 1.000 P -0.51 N 0.22 T -1.005 T 0.000 T 0.063 -0.226 2.906 -9.43 -3.949 -4.098 5.160 -0.22635 NA 0.51 0.631512 0.625965 NA 0.652 NA 8.4109214 811 2 15674686 15674686 T C exonic NBAS NA nonsynonymous SNV NBAS:NM_015909:exon9:c.A727G:p.I243V exonic ENSG00000151779 NA nonsynonymous SNV ENSG00000151779:ENST00000281513:exon9:c.A727G:p.I243V,ENSG00000151779:ENST00000441750:exon9:c.A727G:p.I243V NA NA 2p24.3 Score=843;Name=V$CHX10_01 NA NA NA rs13029846 0.42 0.42 0.399 0.389177 0.6879 0.1617 0.5807 0.2088 0.4243 0.67 0.18 0.58 0.18 0.5553 0.68 0 D 0.001 B 0.002 B 0.015 N 0.946 P 0.665 N 0.9 T -0.931 T 0.000 T 0.029 -0.336 2.406 -4.29 -0.749 -0.116 9.352 -0.336426 NA 0.47 0.681047 0.297322 NA 0.514 NA 8.4090864 811 15 90335788 90335788 C T exonic ANPEP NA nonsynonymous SNV ANPEP:NM_001150:exon17:c.G2255A:p.S752N exonic ENSG00000166825 NA nonsynonymous SNV ENSG00000166825:ENST00000300060:exon17:c.G2255A:p.S752N NA NA 15q26.1 NA NA NA NA rs25651 0.32 0.32 0.335 0.350639 0.2962 0.2331 0.2622 0.5144 0.3691 0.29 0.25 0.26 0.47 0.3099 0.49 0.39 T 0.0 B 0.001 B 0.070 N 1.000 P -0.89 N 3.43 T -0.926 T 0.000 T 0.012 -1.901 0.008 -4.38 -1.792 -0.012 14.257 -1.901246 NA 1 0.31833 0.486818 NA 0.435 NA 8.4089034 811 7 20826452 20826452 T G UTR5 SP8 NM_182700:c.-35A>C,NM_198956:c.-1071A>C NA NA UTR5 ENSG00000164651 ENST00000361443:c.-1071A>C,ENST00000418710:c.-35A>C NA NA Score=784;Name=lod=2038 NA 7p21.1 Score=872;Name=V$TATA_01 Name=TCF4,HMGN3 Name=56 Score=90;Name=2155718_0_-_90 rs34863300 0.28 0.28 0.24 0.280351 0.2962 0.3938 0.3876 0.0877 0.3313 0.29 0.38 0.38 0.06 0.3304 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.490353 2.490353 NA 0.298949 0.122043 NA 0.261 NA 8.4077844 811 11 119216504 119216504 C T exonic MFRP NA nonsynonymous SNV MFRP:NM_031433:exon4:c.G406A:p.V136M exonic ENSG00000235718,ENSG00000259159 NA nonsynonymous SNV ENSG00000235718:ENST00000360167:exon4:c.G406A:p.V136M,ENSG00000235718:ENST00000449574:exon4:c.G406A:p.V136M,ENSG00000259159:ENST00000530681:exon4:c.G406A:p.V136M,ENSG00000235718:ENST00000555262:exon4:c.G406A:p.V136M NA NA 11q23.3 NA NA NA NA rs3814762 0.21 0.21 0.205 0.182109 0.337 0.2004 0.1657 0.0393 0.2086 0.33 0.19 0.22 0.05 0.2664 0.33 0.22 T 0.079 B 0.009 B 0.132 N 1.000 P -0.625 N 1.83 T -0.994 T 0.000 T 0.062 0.623 7.352 -3.06 -0.646 -1.868 6.357 0.623059 NA 0.18 0.322584 0.097544 NA 0.159 NA 8.4073494 811 6 116973182 116973182 T C exonic ZUFSP NA nonsynonymous SNV ZUFSP:NM_145062:exon6:c.A1135G:p.N379D exonic ENSG00000153975 NA nonsynonymous SNV ENSG00000153975:ENST00000368576:exon6:c.A1135G:p.N379D Score=428;Name=lod=73 NA 6q22.1 NA NA Name=4 NA rs4946188 0.37 0.37 0.373 0.405351 0.2932 0.3056 0.4928 0.5076 0.4233 0.3 0.3 0.45 0.49 0.3535 0.49 0.75 T 0.0 B 0.002 B 0.089 N 0.995 P 0.55 N 1.0 T -0.989 T 0.018 T 0.002 -0.158 3.231 1.52 0.108 0.628 5.323 -0.157533 NA 0.75 0.279535 0.473899 ID=COSM450386;OCCURENCE=1(breast) 0.457 NA 8.4070984 811 2 73828538 73828538 G A exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon19:c.G12086A:p.R4029K exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon18:c.G11960A:p.R3987K,ENSG00000116127:ENST00000264448:exon19:c.G12086A:p.R4029K NA NA 2p13.1 NA NA NA NA rs1052161 0.58 0.58 0.522 0.582268 0.6561 0.7599 0.7061 0.2466 0.6892 0.64 0.72 0.7 0.25 0.6334 0.72 1 T 0.001 B 0.002 B 0.659 N 1.000 P -0.695 N 3.46 T -0.967 T 0.000 T 0.05 -0.231 2.887 -6.29 -2.132 -1.799 12.942 -0.23057 NA 0.5 0.637093 0.3403 NA 0.5 NA 8.4067404 811 16 4796393 4796393 A G exonic C16orf71 NA nonsynonymous SNV C16orf71:NM_139170:exon7:c.A1061G:p.Q354R exonic ENSG00000166246 NA nonsynonymous SNV ENSG00000166246:ENST00000299320:exon7:c.A1061G:p.Q354R,ENSG00000166246:ENST00000590191:exon7:c.A1103G:p.Q368R NA NA 16p13.3 NA NA NA NA rs737700 0.62 0.62 0.598 0.565895 0.6481 0.6786 0.5692 0.4682 0.4949 0.65 0.71 0.56 0.51 0.6185 0.71 0.45 T 0.0 B 0.0 B 0.081 N 1.000 P 0 N 3.32 T -0.996 T 0.000 T 0.007 -1.228 0.059 -6.6 -2.323 -1.218 3.002 -1.227684 NA 0.79 0.660581 0.525262 ID=COSM435288;OCCURENCE=1(breast) 0.594 NA 8.4061524 811 22 38130459 38130459 G T exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon9:c.G4116T:p.E1372D exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon9:c.G4116T:p.E1372D NA NA 22q13.1 NA Name=TCF4 NA NA rs8140207 0.27 0.27 0.261 0.263978 0.3241 0.3016 0.2968 0.0401 0.4427 0.33 0.35 0.3 0.05 0.308 0.35 0.4 T 0.051 B 0.02 B . . 1.000 P 0.695 N 1.61 T -0.917 T 0.000 T 0.04 1.497 10.95 0.937 0.228 -0.109 3.171 1.496753 1.496753 0.46 0.295499 0.075874 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036821.1;CLNDSDB=.;CLNDSDBID=. 8.4057344 812 7 4874420 4874420 G C exonic RADIL NA nonsynonymous SNV RADIL:NM_018059:exon4:c.C1234G:p.H412D exonic ENSG00000157927 NA nonsynonymous SNV ENSG00000157927:ENST00000538469:exon3:c.C514G:p.H172D,ENSG00000157927:ENST00000399583:exon4:c.C1234G:p.H412D,ENSG00000157927:ENST00000536091:exon4:c.C1234G:p.H412D NA NA 7p22.1 NA NA NA NA rs2292498 0.24 0.24 0.203 0.251398 0.2873 0.3294 0.2853 0.0401 0.3957 0.28 0.34 0.26 0.04 0.3411 0.34 0.64 T 0.0 B 0.0 B 0.147 N 1.000 P -1.59 N 3.45 T -0.940 T 0.000 T 0.093 -1.905 0.008 2.56 0.291 1.196 8.185 -1.905182 NA 0.61 0.302594 0.074304 NA 0.087 NA 8.4023394 812 15 60803741 60803741 C T exonic RORA NA synonymous SNV RORA:NM_134262:exon4:c.G339A:p.Q113Q,RORA:NM_002943:exon5:c.G579A:p.Q193Q,RORA:NM_134261:exon5:c.G504A:p.Q168Q,RORA:NM_134260:exon6:c.G603A:p.Q201Q exonic ENSG00000069667 NA synonymous SNV ENSG00000069667:ENST00000449337:exon4:c.G339A:p.Q113Q,ENSG00000069667:ENST00000309157:exon5:c.G579A:p.Q193Q,ENSG00000069667:ENST00000335670:exon5:c.G504A:p.Q168Q,ENSG00000069667:ENST00000261523:exon6:c.G603A:p.Q201Q Score=569;Name=lod=274 NA 15q22.2 Score=710;Name=V$NRSF_01 NA Name=17 NA rs61740274 0.05 0.05 0.05 0.04373 0.0865 NA 0.0634 0.0363 0.0409 0.09 NA 0.06 0.04 0.0757 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092094 NA NA 0.103256 0.051067 NA 0.036 NA 8.4012106 812 14 91681888 91681888 G A exonic C14orf159 NA synonymous SNV C14orf159:NM_001102368:exon13:c.G1704A:p.P568P,C14orf159:NM_024952:exon13:c.G1689A:p.P563P,C14orf159:NM_001102367:exon14:c.G1689A:p.P563P,C14orf159:NM_001102369:exon14:c.G1533A:p.P511P,C14orf159:NM_001102366:exon15:c.G1689A:p.P563P exonic ENSG00000133943 NA synonymous SNV ENSG00000133943:ENST00000256324:exon13:c.G1704A:p.P568P,ENSG00000133943:ENST00000428926:exon13:c.G1689A:p.P563P,ENSG00000133943:ENST00000523771:exon13:c.G1689A:p.P563P,ENSG00000133943:ENST00000412671:exon14:c.G1704A:p.P568P,ENSG00000133943:ENST00000520328:exon14:c.G1533A:p.P511P,ENSG00000133943:ENST00000521077:exon14:c.G1584A:p.P528P,ENSG00000133943:ENST00000522322:exon14:c.G1689A:p.P563P,ENSG00000133943:ENST00000525393:exon14:c.G1317A:p.P439P,ENSG00000133943:ENST00000523816:exon15:c.G1689A:p.P563P,ENSG00000133943:ENST00000518868:exon16:c.G1704A:p.P568P NA NA 14q32.11 NA NA NA NA rs34424078 0.07 0.07 0.069 0.0824681 0.0895 0.0516 0.1254 0.0121 0.1718 0.09 0.06 0.1 0.02 0.0922 0.1 . . . . . . . . 0.947 N . . . . -1.060 T 0.001 T . 0.333 5.806 -10.5 -1.122 -1.710 1.997 0.333064 NA NA 0.083953 0.029278 NA 0.123 NA 8.4010136 812 2 3469463 3469463 G C exonic TRAPPC12 NA synonymous SNV TRAPPC12:NM_016030:exon9:c.G1773C:p.L591L exonic ENSG00000171853 NA synonymous SNV ENSG00000171853:ENST00000415624:exon4:c.G267C:p.L89L,ENSG00000171853:ENST00000324266:exon9:c.G1773C:p.L591L,ENSG00000171853:ENST00000382110:exon9:c.G1773C:p.L591L Score=435;Name=lod=78 NA 2p25.3 NA NA Name=8 NA rs4971514 0.43 0.43 0.443 0.415335 0.4473 0.3601 0.3285 0.4826 0.41 0.45 0.37 0.37 0.5 0.4017 0.5 . . . . . . . . 0.000 P . . . . -0.990 T 0.000 T . 2.257 13.5 -10.7 -2.368 -0.650 2.967 2.257146 2.257146 NA 0.416977 0.455288 NA 0.536 NA 8.4006896 812 3 48508585 48508585 C T exonic TREX1 NA synonymous SNV TREX1:NM_016381:exon1:c.C696T:p.Y232Y,TREX1:NM_007248:exon2:c.C501T:p.Y167Y,TREX1:NM_033629:exon2:c.C531T:p.Y177Y exonic ENSG00000213689 NA synonymous SNV ENSG00000213689:ENST00000422277:exon1:c.C696T:p.Y232Y,ENSG00000213689:ENST00000436480:exon2:c.C531T:p.Y177Y,ENSG00000213689:ENST00000444177:exon2:c.C501T:p.Y167Y,ENSG00000213689:ENST00000456089:exon2:c.C114T:p.Y38Y,ENSG00000213689:ENST00000296443:exon3:c.C531T:p.Y177Y,ENSG00000213689:ENST00000433541:exon4:c.C114T:p.Y38Y Score=407;Name=lod=60 NA 3p21.31 Score=809;Name=V$IRF2_01 Name=Pol2 NA NA rs11797 0.33 0.33 0.345 0.313299 0.4433 0.3125 0.2853 0.2383 0.3016 0.43 0.29 0.3 0.24 0.3706 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78922 NA NA 0.453837 0.274626 NA 0.435 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082324.1;CLNDSDB=.;CLNDSDBID=. 8.3989296 812 4 83582211 83582211 C G exonic SCD5 NA nonsynonymous SNV SCD5:NM_024906:exon4:c.G589C:p.E197Q exonic ENSG00000145284 NA nonsynonymous SNV ENSG00000145284:ENST00000273908:exon4:c.G589C:p.E197Q NA NA 4q21.22 NA NA NA NA rs3733227 0.62 0.62 0.612 0.608427 0.6252 0.623 0.7435 0.4887 0.6421 0.63 0.63 0.72 0.49 0.6538 0.72 0.3 T 0.0 B 0.0 B . . 0.999 P . . . . -0.974 T 0.000 T 0.024 1.673 11.55 3.67 1.153 1.373 9.397 1.67337 1.67337 0.41 0.658256 0.506355 NA 0.58 NA 8.3960774 812 3 171338237 171338237 T G exonic PLD1 NA synonymous SNV PLD1:NM_001130081:exon23:c.A2553C:p.V851V,PLD1:NM_002662:exon24:c.A2667C:p.V889V exonic ENSG00000075651 NA synonymous SNV ENSG00000075651:ENST00000356327:exon23:c.A2553C:p.V851V,ENSG00000075651:ENST00000340989:exon24:c.A2667C:p.V889V,ENSG00000075651:ENST00000351298:exon24:c.A2667C:p.V889V Score=385;Name=lod=49 NA 3q26.31 NA NA NA NA rs9881788 0.47 0.47 0.471 0.473243 0.3946 0.3562 0.4669 0.7352 0.3252 0.4 0.33 0.43 0.78 0.4496 0.78 . . . . . . . . 0.000 P . . . . . . . . . -0.664 1.092 4.63 0.704 4.606 10.925 -0.663792 NA NA 0.426512 0.670449 NA 0.449 NA 8.3959546 812 17 3627840 3627840 G A exonic GSG2 NA nonsynonymous SNV GSG2:NM_031965:exon1:c.G611A:p.G204D exonic ENSG00000177602 NA nonsynonymous SNV ENSG00000177602:ENST00000325418:exon1:c.G611A:p.G204D NA NA 17p13.2 NA NA Name=16 NA rs220462 0.23 0.23 0.208 0.257788 0.3101 0.3006 0.1556 0.0356 0.5327 0.31 0.31 0.18 0.04 0.3069 0.32 0 D 0.001 B 0.003 B 0.554 N 1.000 P 0.55 N 3.09 T -0.904 T 0.000 T 0.009 2.158 13.17 -1.77 -0.416 -0.148 9.767 2.15802 2.15802 0.48 0.321047 0.078529 NA 0.261 NA 8.3952864 812 2 165476253 165476253 A T exonic GRB14 NA nonsynonymous SNV GRB14:NM_004490:exon2:c.T268A:p.F90I exonic ENSG00000115290 NA nonsynonymous SNV ENSG00000115290:ENST00000424693:exon1:c.T94A:p.F32I,ENSG00000115290:ENST00000263915:exon2:c.T268A:p.F90I,ENSG00000115290:ENST00000446413:exon2:c.T133A:p.F45I Score=542;Name=lod=213 NA 2q24.3 NA NA NA NA rs61748245 0.5 0.5 0.456 0.443091 0.6769 0.3571 0.7392 0.1838 0.4315 0.68 0.36 0.7 0.22 0.606 0.7 0.43 T 0.022 B 0.027 B 0.002 N 0.000 P 0.69 N 2.02 T -0.985 T 0.000 T 0.196 1.744 11.79 4.3 0.913 1.690 8.941 1.743698 1.743698 0.27 0.655349 0.267136 NA 0.442 NA 8.3950844 813 7 73814749 73814749 G C exonic CLIP2 NA nonsynonymous SNV CLIP2:NM_032421:exon14:c.G2825C:p.R942P,CLIP2:NM_003388:exon15:c.G2930C:p.R977P exonic ENSG00000106665 NA nonsynonymous SNV ENSG00000106665:ENST00000361545:exon14:c.G2825C:p.R942P,ENSG00000106665:ENST00000395060:exon14:c.G2930C:p.R977P,ENSG00000106665:ENST00000223398:exon15:c.G2930C:p.R977P Score=473;Name=lod=112 NA 7q11.23 NA NA NA NA rs2522943 0.99 0.99 0.992 0.988818 0.9811 1 0.9827 0.9985 0.9765 0.99 1 0.98 1 0.9822 1 0.45 T 0.0 B 0.0 B 0.000 N 0.999 P -0.975 N 0.42 T -0.964 T 0.000 T 0.383 0.134 4.723 4.72 1.012 5.445 13.814 0.134417 NA 1 0.975116 0.995915 NA 0.978 NA 8.3949174 813 9 125391127 125391127 C T exonic OR1B1 NA nonsynonymous SNV OR1B1:NM_001004450:exon1:c.G688A:p.A230T exonic ENSG00000171484 NA nonsynonymous SNV ENSG00000171484:ENST00000304833:exon1:c.G688A:p.A230T NA NA 9q33.2 NA NA NA NA rs1476859 0.4 0.4 0.36 0.388978 0.2763 0.7917 0.4885 0.0567 0.4683 0.28 0.8 0.43 0.09 0.3638 0.8 0.44 T 0.031 B 0.078 B 0.000 N 1.000 P -0.015 N 8.59 T -1.023 T 0.000 T 0.026 -1.212 0.066 3.58 0.398 -1.675 7.375 -1.21178 NA 0.42 0.298837 0.092828 NA 0.283 NA 8.3943964 813 7 150557665 150557665 C G exonic ABP1 NA nonsynonymous SNV ABP1:NM_001091:exon4:c.C1933G:p.H645D,ABP1:NM_001272072:exon4:c.C1990G:p.H664D exonic ENSG00000002726 NA nonsynonymous SNV ENSG00000002726:ENST00000360937:exon4:c.C1933G:p.H645D,ENSG00000002726:ENST00000416793:exon4:c.C1990G:p.H664D,ENSG00000002726:ENST00000467291:exon6:c.C1933G:p.H645D,ENSG00000002726:ENST00000493429:exon6:c.C1933G:p.H645D Score=555;Name=lod=241 NA 7q36.1 NA NA NA NA rs1049793 0.42 0.42 0.435 0.453275 0.2694 0.4792 0.3991 0.5446 0.5307 0.28 0.51 0.41 0.54 0.3697 0.54 1 T 0.0 B 0.001 B 0.000 N 0.981 P -2.48 N 4.11 T -0.942 T 0.000 T 0.043 -0.633 1.2 3.07 0.521 0.377 13.851 -0.632801 NA 1 0.300308 0.464644 ID=COSM150423;OCCURENCE=1(stomach) 0.486 NA 8.3939254 813 7 93055753 93055753 A G exonic CALCR NA nonsynonymous SNV CALCR:NM_001164738:exon13:c.T1340C:p.L447P,CALCR:NM_001742:exon14:c.T1340C:p.L447P,CALCR:NM_001164737:exon16:c.T1442C:p.L481P exonic ENSG00000004948 NA nonsynonymous SNV ENSG00000004948:ENST00000394441:exon13:c.T1340C:p.L447P,ENSG00000004948:ENST00000426151:exon14:c.T1340C:p.L447P,ENSG00000004948:ENST00000360249:exon15:c.T1388C:p.L463P,ENSG00000004948:ENST00000421592:exon15:c.T1388C:p.L463P,ENSG00000004948:ENST00000359558:exon16:c.T1442C:p.L481P NA NA 7q21.3 NA NA NA NA rs1801197 0.53 0.53 0.519 0.54353 0.3052 0.8611 0.4308 0.5408 0.545 0.3 0.87 0.43 0.56 0.38 0.87 0.3 T 0.0 B 0.0 B . . 1.000 P . . 0.91 T -1.043 T 0.000 T 0.057 -0.925 0.389 1.3 -0.050 1.787 4.697 -0.924704 NA 0.35 0.254302 0.470495 ID=COSM1178514,COSM1178513;OCCURENCE=1(prostate) 0.551 CLINSIG=other;CLNDBN=Bone_mineral_density_quantitative_trait_locus_15;CLNREVSTAT=single;CLNACC=RCV000019203.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677169:613418 8.3938314 813 11 57798723 57798723 A G exonic OR6Q1 NA nonsynonymous SNV OR6Q1:NM_001005186:exon1:c.A299G:p.D100G exonic ENSG00000172381 NA nonsynonymous SNV ENSG00000172381:ENST00000302622:exon1:c.A299G:p.D100G NA NA 11q12.1 NA NA NA NA rs921135 0.38 0.38 0.361 0.408147 0.2913 0.6825 0.2651 0.3238 0.4611 0.28 0.66 0.27 0.31 0.3517 0.66 1 T 0.0 B 0.0 B 0.001 N 0.941 P -2.225 N 5.23 T -1.040 T 0.000 T 0.038 -0.832 0.593 3.78 1.036 0.808 7.927 -0.832308 NA 1 0.298534 0.336665 NA 0.326 NA 8.3917994 813 18 14105853 14105853 C A exonic ZNF519 NA nonsynonymous SNV ZNF519:NM_145287:exon3:c.G686T:p.R229I exonic ENSG00000175322 NA nonsynonymous SNV ENSG00000175322:ENST00000590202:exon3:c.G686T:p.R229I Score=366;Name=lod=41 NA 18p11.21 NA NA NA NA rs8094412 0.2 0.2 0.183 0.165136 0.1302 0.4454 0.2248 0.0106 0.0787 0.12 0.46 0.19 0.02 0.1596 0.46 0.27 T 0.647 P 0.212 B . . 0.000 P 1.225 L . . -0.914 T 0.000 T 0.133 0.437 6.374 -0.517 -0.192 0.122 4.785 0.437165 NA NA 0.151819 0.033636 NA 0.13 NA 8.3917144 813 19 3179021 3179021 G A exonic S1PR4 NA synonymous SNV S1PR4:NM_003775:exon1:c.G231A:p.S77S exonic ENSG00000125910 NA synonymous SNV ENSG00000125910:ENST00000246115:exon1:c.G231A:p.S77S Score=538;Name=lod=204 NA 19p13.3 NA Name=YY1,YY1_(C-20) Name=12 NA rs34728133 0.04 0.04 0.04 0.0289537 0.0984 NA 0.0274 0.0008 0.0266 0.1 NA 0.02 0.002 0.0953 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810238 NA NA 0.083702 0.014592 NA 0.08 NA 8.3892646 813 13 101287340 101287340 C T exonic TMTC4 NA nonsynonymous SNV TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I exonic ENSG00000125247 NA nonsynonymous SNV ENSG00000125247:ENST00000328767:exon8:c.G922A:p.V308I,ENSG00000125247:ENST00000376234:exon10:c.G1255A:p.V419I,ENSG00000125247:ENST00000342624:exon11:c.G1312A:p.V438I NA NA 13q32.3 NA NA NA NA rs946837 0.38 0.38 0.367 0.389377 0.3022 0.6052 0.245 0.3805 0.3712 0.3 0.58 0.23 0.41 0.3469 0.58 0.69 T 0.005 B 0.008 B 0.008 N 1.000 P 0.515 N 0.72 T -0.928 T 0.000 T 0.062 -0.765 0.773 2.4 0.697 1.160 8.902 -0.765192 NA 0.52 0.297791 0.357467 ID=COSM1365194;OCCURENCE=1(large_intestine) 0.377 NA 8.3864424 813 6 26045737 26045737 C G exonic HIST1H3C NA synonymous SNV HIST1H3C:NM_003531:exon1:c.C99G:p.T33T exonic ENSG00000196532 NA synonymous SNV ENSG00000196532:ENST00000540144:exon1:c.C99G:p.T33T NA NA 6p22.2 Score=870;Name=V$E47_01 Name=Pol2(phosphoS2),YY1,Pol2,GCN5,NRSF,Pol2-4H8,YY1_(C-20),Pbx3,BCLAF1_(M33-P5B11),TAF1,SREBP1,GATA-1,Pol2(b),ZBTB33,WHIP,E2F4,POU2F2,p300,GTF2F1_(RAP-74),TBP,ELF1_(SC-631),BCL3,ZEB1_(SC-25388),HEY1,NFKB,SRF,Oct-2 Name=134 NA rs3752418 0.23 0.23 0.181 0.216853 0.0676 0.5149 0.2695 0.0734 0.2198 0.08 0.56 0.21 0.09 0.1456 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.254466 NA NA 0.067225 0.090785 NA 0.109 NA 8.3862416 813 18 56202768 56202768 C A exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.G4651T:p.A1551S exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G4651T:p.A1551S NA NA 18q21.32 NA Name=NFKB,PAX5-N19,TCF12,TBP,EBF,Egr-1,Pol2-4H8,Rad21,Oct-2,p300,BATF,CHD2_(N-1250),POU2F2,Pol2,SP1,PU.1,BCL11A,IRF4_(M-17) Name=48 NA rs3809983 0.38 0.38 0.368 0.33147 0.5348 0.2381 0.3862 0.2118 0.3415 0.55 0.24 0.46 0.23 0.4258 0.55 0.53 T 0.612 P 0.115 B 0.011 N 1.000 P 1.24 L 0.86 T -0.921 T 0.000 T 0.08 2.114 13.02 -0.092 0.043 -0.557 0.463 2.113587 2.113587 0 0.487326 0.259873 NA 0.457 NA 8.3854074 814 8 144124609 144124609 T C exonic C8orf31 NA nonsynonymous SNV C8orf31:NM_173687:exon3:c.T116C:p.L39P exonic ENSG00000177335 NA nonsynonymous SNV ENSG00000177335:ENST00000395172:exon3:c.T116C:p.L39P,ENSG00000177335:ENST00000524181:exon3:c.T101C:p.L34P NA NA 8q24.3 NA NA NA NA rs11136300 0.71 0.71 0.681 0.705272 0.6392 0.7282 0.6873 0.7428 0.7117 0.64 0.79 0.67 0.75 0.6707 0.79 0.3 T 0.001 B 0.006 B . . 1.000 P 0 N 0.34 T -0.982 T 0.000 T 0.094 -0.624 1.232 -4.36 -1.757 -2.651 1.005 -0.623858 NA 0.13 0.638837 0.722197 NA 0.594 NA 8.3845964 814 3 126261345 126261345 G A exonic CHST13 NA nonsynonymous SNV CHST13:NM_152889:exon3:c.G950A:p.R317Q exonic ENSG00000180767 NA nonsynonymous SNV ENSG00000180767:ENST00000319340:exon3:c.G950A:p.R317Q Score=578;Name=lod=297 NA 3q21.3 NA NA NA NA rs1056522 0.34 0.34 0.372 0.321885 0.2992 0.2569 0.3444 0.4622 0.2065 0.3 0.26 0.35 0.47 0.3697 0.47 0.33 T 0.211 B 0.085 B 0.000 U 0.000 P 1.3 L -0.7 T -0.929 T 0.000 T 0.043 0.699 7.729 1.96 0.102 1.832 7.541 0.698807 NA 0.21 0.283032 0.42549 NA 0.399 NA 8.3814014 814 13 111160304 111160304 G A exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon47:c.G4617A:p.A1539A exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon47:c.G4617A:p.A1539A NA NA 13q34 Score=825;Name=V$PAX4_01 Name=CTCF,c-Myc,AP-2gamma,HA-E2F1 Name=14 NA rs391859 0.11 0.11 0.113 0.100839 0.0915 0.128 0.1974 0.0711 0.0542 0.09 0.14 0.16 0.07 0.101 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746422 NA NA 0.094852 0.072095 NA 0.109 NA 8.3793146 814 14 95884323 95884323 G A exonic SYNE3 NA nonsynonymous SNV SYNE3:NM_152592:exon17:c.C2768T:p.A923V exonic ENSG00000176438 NA nonsynonymous SNV ENSG00000176438:ENST00000554873:exon13:c.C2039T:p.A680V,ENSG00000176438:ENST00000334258:exon17:c.C2768T:p.A923V,ENSG00000176438:ENST00000557275:exon17:c.C2753T:p.A918V Score=355;Name=lod=37 NA 14q32.13 NA NA NA NA rs12434757 0.56 0.56 0.563 0.55012 0.659 0.5 0.5461 0.5 0.5603 0.66 0.5 0.56 0.48 0.6173 0.68 1 T 0.0 B 0.003 B 0.190 N 0.000 P -1.32 N 2.14 T -0.944 T 0.000 T 0.082 -0.086 3.58 2.34 -0.092 1.201 8.572 -0.085774 NA 1 0.678953 0.517703 ID=COSM1477880,COSM433554,COSM433553;OCCURENCE=2(breast) 0.188 NA 8.3780804 814 2 48681868 48681868 C G exonic PPP1R21 NA synonymous SNV PPP1R21:NM_001135629:exon3:c.C261G:p.G87G,PPP1R21:NM_001193475:exon3:c.C261G:p.G87G,PPP1R21:NM_152994:exon3:c.C261G:p.G87G exonic ENSG00000162869 NA synonymous SNV ENSG00000162869:ENST00000281394:exon3:c.C261G:p.G87G,ENSG00000162869:ENST00000294952:exon3:c.C261G:p.G87G,ENSG00000162869:ENST00000431614:exon3:c.C123G:p.G41G,ENSG00000162869:ENST00000449090:exon3:c.C261G:p.G87G Score=515;Name=lod=165 NA 2p16.3 NA Name=Max Name=48 NA rs76587580 0.05 0.05 0.049 0.0305511 0.1103 NA 0.0476 0.0023 0.0061 0.12 NA 0.07 0.002 0.0745 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110497 NA NA 0.103953 0.024512 NA 0.022 NA 8.3779136 814 20 56098733 56098733 T C exonic CTCFL NA nonsynonymous SNV CTCFL:NM_001269041:exon1:c.A529G:p.T177A,CTCFL:NM_001269044:exon1:c.A529G:p.T177A,CTCFL:NM_001269048:exon1:c.A529G:p.T177A,CTCFL:NM_001269052:exon1:c.A529G:p.T177A,CTCFL:NM_001269040:exon2:c.A529G:p.T177A,CTCFL:NM_001269042:exon2:c.A529G:p.T177A,CTCFL:NM_001269043:exon2:c.A529G:p.T177A,CTCFL:NM_001269045:exon2:c.A529G:p.T177A,CTCFL:NM_001269046:exon2:c.A529G:p.T177A,CTCFL:NM_001269047:exon2:c.A529G:p.T177A,CTCFL:NM_001269051:exon2:c.A529G:p.T177A,CTCFL:NM_080618:exon3:c.A529G:p.T177A exonic ENSG00000124092 NA nonsynonymous SNV ENSG00000124092:ENST00000422109:exon1:c.A529G:p.T177A,ENSG00000124092:ENST00000426658:exon1:c.A529G:p.T177A,ENSG00000124092:ENST00000432255:exon1:c.A529G:p.T177A,ENSG00000124092:ENST00000433949:exon1:c.A529G:p.T177A,ENSG00000124092:ENST00000243914:exon2:c.A529G:p.T177A,ENSG00000124092:ENST00000371196:exon2:c.A529G:p.T177A,ENSG00000124092:ENST00000422869:exon2:c.A529G:p.T177A,ENSG00000124092:ENST00000423479:exon2:c.A529G:p.T177A,ENSG00000124092:ENST00000429804:exon2:c.A529G:p.T177A NA NA 20q13.31 NA NA NA NA rs6025606 0.74 0.74 0.763 0.749002 0.661 0.7361 0.6859 0.9312 0.6513 0.65 0.76 0.68 0.92 0.663 0.92 0.92 T 0.005 B 0.003 B 0.427 N 1.000 P 0.745 N 3.55 T -0.948 T 0.000 T 0.025 0.075 4.405 -6.63 -2.144 -3.240 1.356 0.074755 NA 0.2 0.631512 0.87744 NA 0.754 NA 8.3778214 814 3 124728626 124728626 A G exonic HEG1 NA nonsynonymous SNV HEG1:NM_020733:exon8:c.T3116C:p.M1039T exonic ENSG00000173706 NA nonsynonymous SNV ENSG00000173706:ENST00000311127:exon8:c.T3116C:p.M1039T NA NA 3q21.2 NA NA NA NA rs6438869 0.64 0.64 0.623 0.628195 0.6491 0.5982 0.7233 0.5113 0.728 0.67 0.61 0.75 0.56 0.6505 0.75 1 T 0.0 B 0.0 B 0.159 N 1.000 P -1.245 N -2.83 D -0.881 T 0.000 T 0.034 -3.164 0.001 -7.74 -3.321 -0.837 19.552 -3.164122 NA 1 0.655918 0.559647 NA 0.623 NA 8.3778154 814 8 22021517 22021517 G A exonic SFTPC NA nonsynonymous SNV SFTPC:NM_001172357:exon5:c.G539A:p.S180N,SFTPC:NM_001172410:exon5:c.G557A:p.S186N,SFTPC:NM_003018:exon5:c.G557A:p.S186N exonic ENSG00000168484 NA nonsynonymous SNV ENSG00000168484:ENST00000524255:exon4:c.G398A:p.S133N,ENSG00000168484:ENST00000318561:exon5:c.G557A:p.S186N,ENSG00000168484:ENST00000521315:exon5:c.G539A:p.S180N Score=450;Name=lod=90 NA 8p21.3 NA NA NA NA rs1124 0.26 0.26 0.238 0.236022 0.3211 0.3006 0.2695 0.0832 0.2648 0.33 0.3 0.28 0.1 0.3001 0.33 0.38 T 0.004 B 0.004 B 0.245 N 0.000 P . . -1.24 T -1.060 T 0.000 T 0.022 2.762 15.2 2.33 0.695 0.610 5.359 2.76201 2.76201 0.35 0.334928 0.105366 NA 0.29 NA 8.3772054 814 9 139327439 139327439 A G exonic INPP5E NA synonymous SNV INPP5E:NM_019892:exon5:c.T1248C:p.T416T exonic ENSG00000148384 NA synonymous SNV ENSG00000148384:ENST00000371712:exon5:c.T1248C:p.T416T Score=617;Name=lod=430 NA 9q34.3 Score=808;Name=V$SRF_C Name=NRSF NA NA rs10781542 0.38 0.38 0.343 0.378395 0.4145 0.1935 0.6196 0.3896 0.3456 0.43 0.21 0.53 0.39 0.4194 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.036201 NA NA 0.456153 0.396685 NA 0.341 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117264.2;CLNDSDB=.;CLNDSDBID=. 8.3766136 814 6 134493397 134493397 G A exonic SGK1 NA synonymous SNV SGK1:NM_001143677:exon8:c.C804T:p.D268D,SGK1:NM_001143678:exon8:c.C762T:p.D254D,SGK1:NM_005627:exon8:c.C720T:p.D240D,SGK1:NM_001143676:exon10:c.C1005T:p.D335D exonic ENSG00000118515 NA synonymous SNV ENSG00000118515:ENST00000367857:exon7:c.C690T:p.D230D,ENSG00000118515:ENST00000475719:exon7:c.C588T:p.D196D,ENSG00000118515:ENST00000237305:exon8:c.C720T:p.D240D,ENSG00000118515:ENST00000413996:exon8:c.C762T:p.D254D,ENSG00000118515:ENST00000528577:exon8:c.C804T:p.D268D,ENSG00000118515:ENST00000367858:exon10:c.C1005T:p.D335D Score=581;Name=lod=307 NA 6q23.2 NA Name=CTCF,Pol2(phosphoS2),Pol2(b) Name=43 NA rs1057293 0.11 0.11 0.098 0.114417 0.0765 0.2232 0.1326 0.0726 0.0849 0.08 0.17 0.09 0.1 0.1162 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.431354 1.431354 NA 0.097791 0.096913 NA 0.123 NA 8.3761756 815 1 204948659 204948659 A G exonic NFASC NA synonymous SNV NFASC:NM_001160331:exon17:c.A2181G:p.P727P,NFASC:NM_001160332:exon18:c.A2136G:p.P712P,NFASC:NM_015090:exon18:c.A2136G:p.P712P,NFASC:NM_001005388:exon19:c.A2148G:p.P716P exonic ENSG00000163531 NA synonymous SNV ENSG00000163531:ENST00000404907:exon16:c.A2136G:p.P712P,ENSG00000163531:ENST00000513543:exon16:c.A2136G:p.P712P,ENSG00000163531:ENST00000404076:exon17:c.A2085G:p.P695P,ENSG00000163531:ENST00000430393:exon17:c.A2109G:p.P703P,ENSG00000163531:ENST00000360049:exon18:c.A2136G:p.P712P,ENSG00000163531:ENST00000367171:exon18:c.A2103G:p.P701P,ENSG00000163531:ENST00000401399:exon18:c.A2148G:p.P716P,ENSG00000163531:ENST00000539706:exon18:c.A2136G:p.P712P,ENSG00000163531:ENST00000338515:exon19:c.A2148G:p.P716P,ENSG00000163531:ENST00000338586:exon19:c.A2148G:p.P716P,ENSG00000163531:ENST00000339876:exon19:c.A2148G:p.P716P,ENSG00000163531:ENST00000367169:exon19:c.A2148G:p.P716P,ENSG00000163531:ENST00000367170:exon19:c.A2148G:p.P716P,ENSG00000163531:ENST00000367172:exon19:c.A2148G:p.P716P NA NA 1q32.1 NA NA NA NA rs6667532 0.1 0.1 0.102 0.0970447 0.0775 0.0139 0.0692 0.205 0.0767 0.08 0.02 0.07 0.24 0.0999 0.24 . . . . . . . . 0.000 P . . . . -0.960 T 0.000 T . 0.893 8.629 -10.5 -5.484 -2.604 11.333 0.893166 NA NA 0.115698 0.21594 NA 0.174 NA 8.3735686 815 8 135612745 135612745 A G exonic ZFAT NA synonymous SNV ZFAT:NM_001174157:exon6:c.T2223C:p.D741D,ZFAT:NM_001167583:exon7:c.T2373C:p.D791D,ZFAT:NM_001174158:exon7:c.T2373C:p.D791D,ZFAT:NM_020863:exon7:c.T2409C:p.D803D,ZFAT:NM_001029939:exon8:c.T2373C:p.D791D exonic ENSG00000066827 NA synonymous SNV ENSG00000066827:ENST00000523399:exon6:c.T2223C:p.D741D,ENSG00000066827:ENST00000377838:exon7:c.T2409C:p.D803D,ENSG00000066827:ENST00000429442:exon7:c.T2373C:p.D791D,ENSG00000066827:ENST00000520214:exon7:c.T2373C:p.D791D,ENSG00000066827:ENST00000520356:exon7:c.T2373C:p.D791D,ENSG00000066827:ENST00000523243:exon7:c.T2409C:p.D803D,ENSG00000066827:ENST00000520727:exon8:c.T2373C:p.D791D Score=753;Name=lod=1530 NA 8q24.22 Score=720;Name=V$SEF1_C Name=TAF1,POU2F2,Pol2,IRF4_(M-17),Oct-2,EBF1_(C-8),BATF,EBF,Pol2-4H8,NFKB,PAX5-C20,TCF12 Name=7 NA rs894344 0.49 0.49 0.441 0.491014 0.4274 0.5486 0.6225 0.4168 0.5041 0.43 0.55 0.6 0.44 0.4642 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.701443 2.701443 NA 0.401732 0.391227 NA 0.42 NA 8.3733346 815 5 127638759 127638759 A G exonic FBN2 NA synonymous SNV FBN2:NM_001999:exon46:c.T5823C:p.H1941H exonic ENSG00000138829 NA synonymous SNV ENSG00000138829:ENST00000262464:exon46:c.T5823C:p.H1941H,ENSG00000138829:ENST00000508053:exon52:c.T5823C:p.H1941H Score=514;Name=lod=163 NA 5q23.3 Score=792;Name=V$PAX6_01 NA NA NA rs11955288 0.09 0.09 0.093 0.0928514 0.0954 0.0655 0.0692 0.1029 0.1217 0.09 0.06 0.1 0.12 0.0949 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824931 NA NA 0.103256 0.105765 NA 0.087 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117025.1|RCV000125065.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.3731106 815 15 45446156 45446156 C T exonic DUOX1 NA nonsynonymous SNV DUOX1:NM_175940:exon27:c.C3532T:p.L1178F,DUOX1:NM_017434:exon28:c.C3532T:p.L1178F exonic ENSG00000137857 NA nonsynonymous SNV ENSG00000137857:ENST00000561166:exon17:c.C2470T:p.L824F,ENSG00000137857:ENST00000389037:exon27:c.C3532T:p.L1178F,ENSG00000137857:ENST00000321429:exon28:c.C3532T:p.L1178F Score=544;Name=lod=217 NA 15q21.1 NA NA NA NA rs2458236 0.54 0.54 0.543 0.553315 0.661 0.4911 0.5029 0.388 0.7658 0.67 0.46 0.57 0.42 0.6248 0.68 0.57 T 0.002 B 0.019 B 0.003 N 0.999 P 0.615 N -2.77 D -0.905 T 0.000 T 0.097 1.342 10.41 3.35 0.354 0.792 6.258 1.342094 1.342094 0.28 0.676361 0.425387 ID=COSM147898;OCCURENCE=1(stomach) 0.551 NA 8.3711724 815 17 10450816 10450816 T C exonic MYH2 NA synonymous SNV MYH2:NM_001100112:exon4:c.A324G:p.E108E,MYH2:NM_017534:exon4:c.A324G:p.E108E exonic ENSG00000125414 NA synonymous SNV ENSG00000125414:ENST00000578017:exon1:c.A87G:p.E29E,ENSG00000125414:ENST00000431502:exon3:c.A324G:p.E108E,ENSG00000125414:ENST00000532183:exon3:c.A324G:p.E108E,ENSG00000125414:ENST00000245503:exon4:c.A324G:p.E108E,ENSG00000125414:ENST00000397183:exon4:c.A324G:p.E108E,ENSG00000125414:ENST00000420805:exon4:c.A324G:p.E108E Score=549;Name=lod=227 NA 17p13.1 NA Name=eGFP-JunD,FOSL2,JunD Name=9 Score=123;Name=963045_0_+_123 rs12600539 0.53 0.53 0.512 0.54353 0.3917 0.8492 0.5216 0.3797 0.6217 0.39 0.87 0.52 0.38 0.4922 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097897 NA NA 0.412558 0.400363 NA 0.522 NA 8.3702086 815 6 311938 311938 C T exonic DUSP22 NA synonymous SNV DUSP22:NM_020185:exon3:c.C114T:p.H38H exonic ENSG00000112679 NA synonymous SNV ENSG00000112679:ENST00000344450:exon3:c.C114T:p.H38H,ENSG00000112679:ENST00000419235:exon3:c.C114T:p.H38H,ENSG00000112679:ENST00000603726:exon3:c.C114T:p.H38H,ENSG00000112679:ENST00000603795:exon3:c.C114T:p.H38H Score=491;Name=lod=132 NA 6p25.3 NA Name=CEBPB,Egr-1 Name=26 NA rs11242786 0.05 0.05 0.036 0.0367412 0.1093 NA 0.0807 0.0045 0.0123 0.1 NA 0.07 0.01 0.0734 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.646356 1.646356 NA 0.114651 0.025193 NA 0.043 NA 8.3693156 815 1 236719193 236719193 A G exonic HEATR1 NA nonsynonymous SNV HEATR1:NM_018072:exon39:c.T5561C:p.V1854A exonic ENSG00000119285 NA nonsynonymous SNV ENSG00000119285:ENST00000366581:exon38:c.T5318C:p.V1773A,ENSG00000119285:ENST00000366582:exon39:c.T5561C:p.V1854A NA NA 1q43 Score=871;Name=V$SREBP1_02 NA NA NA rs1885533 0.55 0.55 0.521 0.485024 0.6759 0.4782 0.5086 0.3865 0.4121 0.68 0.5 0.54 0.41 0.6055 0.68 0.8 T 0.002 B 0.004 B 0.062 N 1.000 P 1.15 L -0.09 T -0.925 T 0.000 T 0.029 -0.004 3.992 2.76 0.415 1.277 6.413 -0.004214 NA 0.5 0.682674 0.442805 NA 0.609 NA 8.3692594 815 3 197427557 197427557 A G exonic KIAA0226 NA synonymous SNV KIAA0226:NM_001145642:exon7:c.T1008C:p.T336T,KIAA0226:NM_014687:exon7:c.T1188C:p.T396T exonic ENSG00000145016 NA synonymous SNV ENSG00000145016:ENST00000447048:exon1:c.T84C:p.T28T,ENSG00000145016:ENST00000273582:exon7:c.T1008C:p.T336T,ENSG00000145016:ENST00000296343:exon7:c.T1188C:p.T396T,ENSG00000145016:ENST00000389665:exon7:c.T1188C:p.T396T,ENSG00000145016:ENST00000449205:exon7:c.T1188C:p.T396T NA NA 3q29 NA NA NA NA rs28394098 0.12 0.12 0.137 0.139177 0.1034 0.0308 0.0677 0.3169 0.0982 0.1 0.04 0.07 0.29 0.1007 0.29 . . . . . . . . 1.000 P . . . . -0.988 T 0.000 T . 0.422 6.29 -2.21 -0.698 -0.445 7.452 0.421625 NA NA 0.09422 0.278077 NA 0.225 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117385.2;CLNDSDB=.;CLNDSDBID=. 8.3683466 815 9 35662251 35662251 T C exonic ARHGEF39 NA nonsynonymous SNV ARHGEF39:NM_032818:exon8:c.A917G:p.H306R exonic ENSG00000137135 NA nonsynonymous SNV ENSG00000137135:ENST00000378387:exon8:c.A917G:p.H306R,ENSG00000137135:ENST00000378395:exon8:c.A809G:p.H270R,ENSG00000137135:ENST00000490638:exon9:c.A809G:p.H270R Score=410;Name=lod=62 NA 9p13.3 NA NA NA NA rs2297879 0.33 0.33 0.315 0.305711 0.325 0.503 0.3545 0.0628 0.3763 0.34 0.5 0.38 0.1 0.3227 0.5 0.58 T 0.0 B 0.0 B . . 0.695 P 0.895 L 1.01 T -0.907 T 0.000 T 0.066 0.365 5.983 2.39 0.169 0.418 7.524 0.365374 NA 0.27 0.317326 0.120517 NA 0.275 NA 8.3683074 815 9 100616583 100616583 T C exonic FOXE1 NA synonymous SNV FOXE1:NM_004473:exon1:c.T387C:p.L129L exonic ENSG00000178919 NA synonymous SNV ENSG00000178919:ENST00000375123:exon1:c.T387C:p.L129L Score=779;Name=lod=1959 NA 9q22.33 Score=838;Name=V$ARP1_01 Name=Pol2 Name=59 NA rs3021523 0.88 0.88 0.85 0.882788 0.7604 0.9911 0.8271 0.969 0.82 0.76 0.99 0.81 0.97 0.8005 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.464984 1.464984 NA 0.737785 0.929545 NA 0.014 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081101.1;CLNDSDB=.;CLNDSDBID=. 8.3679816 815 20 25276297 25276297 G A exonic PYGB NA synonymous SNV PYGB:NM_002862:exon19:c.G2370A:p.Q790Q exonic ENSG00000100994 NA synonymous SNV ENSG00000100994:ENST00000216962:exon19:c.G2370A:p.Q790Q Score=519;Name=lod=172 NA 20p11.21 Score=778;Name=V$MYCMAX_03 NA Name=7 NA rs1130694 0.53 0.53 0.516 0.511581 0.4264 0.9107 0.3314 0.3729 0.5031 0.43 0.93 0.34 0.37 0.448 0.93 . . . . . . . . 0.000 P . . . . -1.040 T 0.000 T . 1.195 9.855 1.51 0.251 0.237 5.184 1.194604 NA NA 0.425581 0.363595 NA 0.449 NA 8.3666856 815 8 8234192 8234192 G C exonic SGK223 NA nonsynonymous SNV SGK223:NM_001080826:exon2:c.C1727G:p.S576C exonic ENSG00000182319 NA nonsynonymous SNV ENSG00000182319:ENST00000330777:exon2:c.C1727G:p.S576C,ENSG00000182319:ENST00000520004:exon3:c.C1727G:p.S576C NA NA 8p23.1 NA Name=Pol2 NA NA rs4840953 0.43 0.43 0.385 0.454473 0.3022 0.6409 0.4323 0.3918 0.5194 0.29 0.68 0.39 0.41 0.3877 0.68 0.18 T 0.001 B 0.001 B 0.009 N 1.000 P 0.41 N 0.29 T -0.914 T 0.000 T 0.216 1.297 10.25 1.93 1.199 0.024 4.110 1.297067 1.297067 0.1 0.277724 0.322948 NA 0.341 NA 8.3657094 815 19 4510560 4510560 C T exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G3370A:p.A1124T exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.G3370A:p.A1124T NA NA 19p13.3 NA NA NA NA rs7251858 0.36 0.36 0.342 0.354633 0.3091 0.5645 0.304 0.27 0.3354 0.3 0.56 0.33 0.25 0.354 0.56 0.32 T 0.9 P 0.452 P 0.077 N 1.000 P 0.695 N 2.84 T -0.996 T 0.000 T 0.097 2.823 15.4 1.51 1.353 0.396 3.856 2.823443 2.823443 0.62 0.304636 0.28309 ID=COSM1481191,COSM439757;OCCURENCE=1(breast) 0.217 NA 8.3655974 815 14 88946622 88946622 G A exonic PTPN21 NA nonsynonymous SNV PTPN21:NM_007039:exon13:c.C1153T:p.L385F exonic ENSG00000070778 NA nonsynonymous SNV ENSG00000070778:ENST00000328736:exon12:c.C1153T:p.L385F,ENSG00000070778:ENST00000556564:exon13:c.C1153T:p.L385F NA NA 14q31.3 Score=900;Name=V$CREBP1CJUN_01 NA NA NA rs2401751 0.34 0.34 0.345 0.35643 0.2962 0.38 0.2651 0.3835 0.4223 0.31 0.36 0.27 0.4 0.3313 0.42 0.37 T 0.236 B 0.03 B 0.002 N 1.000 P 0.805 L -0.77 T -0.988 T 0.000 T 0.027 0.862 8.49 0.973 0.284 4.629 3.566 0.861786 NA 0.15 0.340814 0.371312 NA 0.399 NA 8.3650194 816 8 10467160 10467160 G A exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.C4448T:p.A1483V exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C4448T:p.A1483V NA NA 8p23.1 NA NA NA NA rs62490855 0.14 0.14 0.131 0.176318 0.1421 0.1597 0.1686 0.0393 0.4192 0.15 0.17 0.18 0.05 0.1806 0.2 0.88 T 0.915 P 0.371 B 0.362 N 1.000 P 0.895 L 3.55 T -0.956 T 0.000 T 0.024 2.094 12.96 -2.78 -0.403 -0.334 8.923 2.093607 2.093607 0.14 0.145783 0.060714 NA 0.159 NA 8.3648504 816 2 136555659 136555659 T C exonic LCT NA nonsynonymous SNV LCT:NM_002299:exon13:c.A4916G:p.N1639S exonic ENSG00000115850 NA nonsynonymous SNV ENSG00000115850:ENST00000264162:exon13:c.A4916G:p.N1639S NA NA 2q21.3 NA NA Name=6 NA rs2322659 0.49 0.49 0.451 0.442692 0.6382 0.4623 0.4669 0.3011 0.3957 0.65 0.46 0.5 0.27 0.6058 0.73 0.23 T 0.013 B 0.031 B 0.152 N 1.000 P 0.28 N 1.54 T -0.969 T 0.000 T 0.088 1.229 9.982 -8.89 -1.651 -0.869 10.073 1.228511 NA 0.25 0.725581 0.407172 NA 0.543 NA 8.3637524 816 19 11210912 11210912 C T exonic LDLR NA synonymous SNV LDLR:NM_000527:exon2:c.C81T:p.C27C,LDLR:NM_001195798:exon2:c.C81T:p.C27C,LDLR:NM_001195799:exon2:c.C81T:p.C27C,LDLR:NM_001195800:exon2:c.C81T:p.C27C,LDLR:NM_001195802:exon2:c.C81T:p.C27C,LDLR:NM_001195803:exon2:c.C81T:p.C27C exonic ENSG00000130164 NA synonymous SNV ENSG00000130164:ENST00000455727:exon2:c.C81T:p.C27C,ENSG00000130164:ENST00000535915:exon2:c.C81T:p.C27C,ENSG00000130164:ENST00000545707:exon2:c.C81T:p.C27C,ENSG00000130164:ENST00000557933:exon2:c.C81T:p.C27C,ENSG00000130164:ENST00000558013:exon2:c.C81T:p.C27C,ENSG00000130164:ENST00000558518:exon2:c.C81T:p.C27C NA Name=Cholesterol, total,LDL cholesterol 19p13.2 NA Name=Pol2(b) Name=20 NA rs2228671 0.06 0.06 0.045 0.0569089 0.1014 0.0129 0.0965 0.0234 0.0736 0.09 0.01 0.12 0.02 0.0866 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023031 NA NA 0.116977 0.039038 NA 0.145 NA 8.3616896 816 6 32557506 32557506 T C exonic HLA-DRB1 NA nonsynonymous SNV HLA-DRB1:NM_002124:exon1:c.A14G:p.K5R exonic ENSG00000196126 NA nonsynonymous SNV ENSG00000196126:ENST00000360004:exon1:c.A14G:p.K5R NA NA 6p21.32 NA Name=TAF1,POU2F2,ZBTB33,Pol2,PU.1,RFX5_(N-494),YY1,Egr-1,Sin3Ak-20,YY1_(C-20),BCLAF1_(M33-P5B11),Pol2-4H8,NFKB,BCL3,ZEB1_(SC-25388),PAX5-N19,Oct-2,p300,TCF12,TBP Name=46 NA rs707953 NA NA 0.376 0.482428 0.4791 0.4613 0.4841 0.5091 0.4703 NA NA NA NA 0.4926 0.043 0.76 T 0.001 B 0.003 B . . 1.000 N . . 6.13 T -1.039 T 0.000 T 0.403 0.329 5.781 -1.71 -0.165 -0.355 3.242 0.328507 NA 0.78 NA NA NA 0.036 NA 8.3616334 816 1 156640156 156640156 G A exonic NES NA nonsynonymous SNV NES:NM_006617:exon4:c.C3824T:p.P1275L exonic ENSG00000132688 NA nonsynonymous SNV ENSG00000132688:ENST00000368223:exon4:c.C3824T:p.P1275L Score=272;Name=lod=17 NA 1q23.1 NA NA NA NA rs3748570 0.73 0.73 0.705 0.724441 0.6551 0.87 0.7104 0.711 0.6738 0.65 0.87 0.71 0.71 0.6745 0.87 1 T 0.0 B 0.0 B 0.012 N 1.000 P -2.005 N -1.7 D -1.028 T 0.043 T 0.083 -1.374 0.026 4.95 0.732 0.911 4.630 -1.37356 NA 1 0.642674 0.693373 NA 0.558 NA 8.3610594 816 17 39674641 39674641 T C exonic KRT15 NA nonsynonymous SNV KRT15:NM_002275:exon1:c.A439G:p.T147A exonic ENSG00000171346 NA nonsynonymous SNV ENSG00000171346:ENST00000254043:exon1:c.A439G:p.T147A,ENSG00000171346:ENST00000393976:exon3:c.A439G:p.T147A NA NA 17q21.2 NA NA Name=5 NA rs1050784 0.72 0.72 0.683 0.732827 0.6481 0.9147 0.7867 0.593 0.7832 0.63 0.93 0.74 0.59 0.6864 0.93 0.52 T 0.001 B 0.006 B 0.604 N 1.000 P 0.83 L -3.49 D -0.995 T 0.000 T 0.021 -1.421 0.021 -3.05 -0.744 -0.885 5.699 -1.421478 NA 0.86 0.637791 0.586246 NA 0.746 NA 8.3610424 816 2 120078778 120078778 T C exonic C2orf76 NA nonsynonymous SNV C2orf76:NM_001017927:exon4:c.A136G:p.I46V exonic ENSG00000186132 NA nonsynonymous SNV ENSG00000186132:ENST00000334816:exon3:c.A136G:p.I46V,ENSG00000186132:ENST00000409523:exon3:c.A136G:p.I46V,ENSG00000186132:ENST00000414534:exon3:c.A223G:p.I75V,ENSG00000186132:ENST00000409466:exon4:c.A136G:p.I46V,ENSG00000186132:ENST00000409877:exon4:c.A136G:p.I46V NA NA 2q14.2 NA NA NA NA rs1132267 0.65 0.65 0.661 0.655551 0.6531 0.4395 0.5922 0.8404 0.6759 0.67 0.47 0.61 0.85 0.664 0.85 0.67 T 0.004 B 0.016 B 0.023 N 1.000 P 0.355 N 1.42 T -1.008 T 0.000 T 0.119 0.811 8.258 -2.9 -0.978 -1.428 11.409 0.810598 NA 0.71 0.658884 0.80402 ID=COSM441051;OCCURENCE=1(breast),1(large_intestine) 0.775 NA 8.3573494 816 11 47188411 47188411 C T exonic ARFGAP2 NA nonsynonymous SNV ARFGAP2:NM_001242832:exon12:c.G1148A:p.S383N,ARFGAP2:NM_032389:exon13:c.G1232A:p.S411N exonic ENSG00000149182 NA nonsynonymous SNV ENSG00000149182:ENST00000526342:exon4:c.G353A:p.S118N,ENSG00000149182:ENST00000319543:exon7:c.G425A:p.S142N,ENSG00000149182:ENST00000426335:exon8:c.G824A:p.S275N,ENSG00000149182:ENST00000419701:exon12:c.G911A:p.S304N,ENSG00000149182:ENST00000524782:exon13:c.G1232A:p.S411N Score=346;Name=lod=34 NA 11p11.2 NA NA NA NA rs3740691 0.34 0.34 0.371 0.388578 0.335 0.124 0.2435 0.6853 0.4182 0.33 0.14 0.26 0.65 0.3252 0.65 0.34 T 0.001 B 0.003 B 0.007 N 0.972 P 0.835 L 3.5 T -1.003 T 0.000 T 0.06 1.757 11.84 3.76 0.703 0.616 6.683 1.757403 1.757403 0.33 0.317399 0.612676 NA 0.341 NA 8.3557344 817 X 100547933 100547933 A G exonic TAF7L NA nonsynonymous SNV TAF7L:NM_024885:exon1:c.T101C:p.L34P exonic ENSG00000102387 NA nonsynonymous SNV ENSG00000102387:ENST00000372907:exon1:c.T101C:p.L34P NA NA Xq22.1 NA NA NA NA rs5951328 0.99 0.99 0.99682 NA NA NA NA NA NA 0.99 1 0.99 1 0.9905 1 0.36 T 0.0 B 0.0 B 0.068 N 1.000 P -0.205 N 2.47 T -0.966 T 0.000 T 0.017 -0.036 3.832 -2.79 -1.418 -1.292 11.476 -0.035513 NA 0.13 0.988555 0.997132 NA 0.746 NA 8.3542784 817 17 46805443 46805443 A G exonic HOXB13 NA synonymous SNV HOXB13:NM_006361:exon1:c.T513C:p.S171S exonic ENSG00000159184 NA synonymous SNV ENSG00000159184:ENST00000290295:exon1:c.T513C:p.S171S Score=609;Name=lod=398 NA 17q21.32 Score=801;Name=V$PPARG_03 Name=ZNF263 NA NA rs9900627 0.12 0.12 0.101 0.121206 0.1064 0.1835 0.2075 0.0983 0.0419 0.1 0.17 0.16 0.09 0.1114 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108704 NA NA 0.096047 0.107354 NA 0.123 NA 8.3528196 817 16 855717 855717 C G exonic PRR25 NA nonsynonymous SNV PRR25:NM_001013638:exon1:c.C275G:p.T92S exonic ENSG00000167945 NA nonsynonymous SNV ENSG00000167945:ENST00000301698:exon1:c.C275G:p.T92S NA NA 16p13.3 NA NA NA NA rs1005190 0.48 0.48 0.489 0.563299 0.2833 0.4494 0.4726 0.8525 0.6421 0.26 0.47 0.44 0.85 0.4082 0.85 0 D 0.0 B 0.0 B . . 1.000 P 0 N 1.27 T -1.048 T 0.000 T 0.016 -2.773 0 0.364 -0.656 -1.151 5.166 -2.773183 NA NA 0.291485 0.730155 ID=COSM1563479;OCCURENCE=1(large_intestine) 0.551 NA 8.3503484 817 8 24356818 24356818 A C exonic ADAM7 NA nonsynonymous SNV ADAM7:NM_003817:exon17:c.A1912C:p.N638H exonic ENSG00000069206 NA nonsynonymous SNV ENSG00000069206:ENST00000520720:exon11:c.A1228C:p.N410H,ENSG00000069206:ENST00000175238:exon17:c.A1912C:p.N638H,ENSG00000069206:ENST00000380789:exon17:c.A1912C:p.N638H NA NA 8p21.2 NA NA NA NA rs13259668 0.3 0.3 0.277 0.326278 0.3062 0.1935 0.4452 0.3185 0.41 0.31 0.2 0.43 0.3 0.3436 0.43 0.66 T 0.001 B 0.001 B 0.060 N 1.000 P 0.81 L 1.49 T -0.988 T 0.000 T 0.042 -0.988 0.278 -4.36 -0.866 -1.275 3.233 -0.98809 NA 0.14 0.333488 0.324557 NA 0.268 NA 8.3500454 817 11 118895686 118895686 C T exonic SLC37A4 NA synonymous SNV SLC37A4:NM_001164280:exon9:c.G1224A:p.T408T,SLC37A4:NM_001467:exon10:c.G1224A:p.T408T,SLC37A4:NM_001164277:exon11:c.G1224A:p.T408T,SLC37A4:NM_001164279:exon11:c.G1005A:p.T335T,SLC37A4:NM_001164278:exon12:c.G1290A:p.T430T exonic ENSG00000137700,ENSG00000196655 NA nonsynonymous SNV ENSG00000196655:ENST00000533058:exon5:c.C701T:p.P234L NA NA 11q23.3 NA NA NA NA rs8192696 0.21 0.21 0.197 0.247804 0.2157 0.0823 0.2161 0.3638 0.317 0.21 0.06 0.23 0.36 0.2187 0.36 0 D . . . . . . 0.000 P . . 0.72 T -0.977 T 0.000 T . 1.447 10.78 -0.051 -0.115 -1.146 9.191 1.446975 1.446975 NA 0.216336 0.337209 NA 0.275 NA 8.349264 817 3 46480958 46480958 C G exonic LTF NA nonsynonymous SNV LTF:NM_001199149:exon15:c.G1605C:p.E535D,LTF:NM_002343:exon15:c.G1737C:p.E579D exonic ENSG00000012223 NA nonsynonymous SNV ENSG00000012223:ENST00000231751:exon15:c.G1737C:p.E579D,ENSG00000012223:ENST00000417439:exon15:c.G1731C:p.E577D,ENSG00000012223:ENST00000426532:exon15:c.G1605C:p.E535D,ENSG00000012223:ENST00000443496:exon18:c.G1698C:p.E566D NA NA 3p21.31 NA NA NA NA rs2073495 0.28 0.28 0.255 0.277157 0.3221 0.3661 0.3501 0.059 0.3824 0.31 0.36 0.37 0.07 0.3237 0.37 0.38 T 0.0 B 0.005 B 0.135 N 1.000 P 0.905 L 3.21 T -0.981 T 0.000 T 0.112 0.53 6.87 -10.3 -3.002 -4.284 5.801 0.529868 NA 0.33 0.338605 0.100091 NA 0.268 NA 8.3489284 817 1 160105367 160105367 C T exonic ATP1A2 NA synonymous SNV ATP1A2:NM_000702:exon16:c.C2259T:p.A753A exonic ENSG00000018625 NA synonymous SNV ENSG00000018625:ENST00000361216:exon16:c.C2259T:p.A753A,ENSG00000018625:ENST00000392233:exon16:c.C2259T:p.A753A Score=567;Name=lod=270 NA 1q23.2 NA NA NA NA rs17846715 0.07 0.07 0.041 0.063099 0.0934 0.0615 0.1182 0.0045 0.0736 0.1 0.05 0.11 0.01 0.1077 0.12 . . . . . . . . 0.000 P . . . . -1.049 T 0.038 T . 1.187 9.827 1.26 0.494 0.425 4.873 1.187327 NA NA 0.117093 0.022242 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116450.2;CLNDSDB=.;CLNDSDBID=. 8.3484736 817 10 7605101 7605101 A G exonic ITIH5 NA nonsynonymous SNV ITIH5:NM_032817:exon10:c.T2132C:p.F711S,ITIH5:NM_030569:exon14:c.T2774C:p.F925S exonic ENSG00000123243 NA nonsynonymous SNV ENSG00000123243:ENST00000298441:exon10:c.T2132C:p.F711S,ENSG00000123243:ENST00000256861:exon14:c.T2774C:p.F925S,ENSG00000123243:ENST00000446830:exon14:c.T2120C:p.F707S Score=355;Name=lod=37 NA 10p14 NA NA NA NA rs10795551 0.97 0.97 0.962 0.966653 0.997 1 0.9856 0.8835 1 1 1 0.99 0.87 0.9909 1 0.85 T 0.0 B 0.0 B 0.000 N 0.000 P . . 5.11 T -0.930 T 0.000 T 0.228 -0.5 1.706 4.88 1.466 3.775 12.193 -0.50037 NA 1 0.998256 0.91035 NA 0.978 NA 8.3471774 817 7 66459256 66459256 T C exonic SBDS NA synonymous SNV SBDS:NM_016038:exon2:c.A201G:p.K67K exonic ENSG00000126524 NA synonymous SNV ENSG00000126524:ENST00000246868:exon2:c.A201G:p.K67K,ENSG00000126524:ENST00000414306:exon2:c.A201G:p.K67K Score=609;Name=lod=397 NA 7q11.21 NA NA Name=8 NA rs1061695 0.07 0.07 0.045 0.0503195 0.1262 0.0079 0.1023 0.0098 0.0337 0.13 0.0035 0.12 0.01 0.084 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.617973 1.617973 NA 0.111047 0.02542 NA 0.123 CLINSIG=non-pathogenic;CLNDBN=Shwachman_syndrome;CLNREVSTAT=single;CLNACC=RCV000020727.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1756:C0272170:260400:ORPHA811:89454001 8.3454196 818 1 186276661 186276661 A G exonic PRG4 NA nonsynonymous SNV PRG4:NM_001127710:exon4:c.A1408G:p.T470A,PRG4:NM_001127709:exon5:c.A1531G:p.T511A,PRG4:NM_001127708:exon6:c.A1687G:p.T563A,PRG4:NM_005807:exon7:c.A1810G:p.T604A exonic ENSG00000116690 NA nonsynonymous SNV ENSG00000116690:ENST00000367482:exon4:c.A1408G:p.T470A,ENSG00000116690:ENST00000367485:exon5:c.A1531G:p.T511A,ENSG00000116690:ENST00000367483:exon6:c.A1687G:p.T563A,ENSG00000116690:ENST00000367486:exon6:c.A1681G:p.T561A,ENSG00000116690:ENST00000445192:exon7:c.A1810G:p.T604A NA NA 1q31.1 NA NA NA NA rs61831150 0.24 0.24 0.207 0.229433 0.33 0.125 0.4078 0.1415 0.226 0.34 0.13 0.4 0.12 0.3053 0.4 . . 0.021 B 0.006 B 0.077 U 1.000 P 1.75 L 3.46 T -0.918 T 0.000 T 0.231 0.53 6.871 -6.98 -1.252 0.345 2.033 0.53005 NA 0.36 0.35314 0.187472 ID=COSM1599884;OCCURENCE=1(central_nervous_system) 0.181 NA 8.3448934 818 1 233398713 233398713 C T exonic PCNXL2 NA nonsynonymous SNV PCNXL2:NM_014801:exon2:c.G350A:p.R117K exonic ENSG00000135749 NA nonsynonymous SNV ENSG00000135749:ENST00000258229:exon2:c.G350A:p.R117K NA NA 1q42.2 NA NA NA NA rs1033325 0.24 0.24 0.226 0.276957 0.3429 0.1647 0.2291 0.2057 0.455 0.34 0.16 0.23 0.21 0.3205 0.34 0.42 T 0.0 B 0.0 B . . 1.000 P 0.115 N 0.01 T -0.989 T 0.000 T 0.015 -1.071 0.172 2.71 0.416 1.031 1.353 -1.070678 NA 0.29 0.325129 0.231086 NA 0.196 NA 8.3448044 818 7 92762681 92762681 A G exonic SAMD9L NA synonymous SNV SAMD9L:NM_152703:exon5:c.T2604C:p.A868A exonic ENSG00000177409 NA synonymous SNV ENSG00000177409:ENST00000318238:exon5:c.T2604C:p.A868A,ENSG00000177409:ENST00000411955:exon6:c.T2604C:p.A868A,ENSG00000177409:ENST00000437805:exon6:c.T2604C:p.A868A Score=437;Name=lod=80 NA 7q21.2 Score=792;Name=V$COMP1_01 Name=c-Fos NA NA rs1029357 0.27 0.27 0.281 0.290735 0.0716 0.3482 0.3285 0.5174 0.1237 0.07 0.34 0.31 0.49 0.1712 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788322 NA NA 0.081996 0.421435 ID=COSM150326;OCCURENCE=1(stomach) 0.312 NA 8.3418706 818 11 48145375 48145375 A C exonic PTPRJ NA nonsynonymous SNV PTPRJ:NM_001098503:exon5:c.A827C:p.Q276P,PTPRJ:NM_002843:exon5:c.A827C:p.Q276P exonic ENSG00000149177 NA nonsynonymous SNV ENSG00000149177:ENST00000418331:exon5:c.A827C:p.Q276P,ENSG00000149177:ENST00000440289:exon5:c.A827C:p.Q276P NA NA 11p11.2 NA NA NA NA rs1566734 0.17 0.17 0.161 0.189896 0.161 0.3185 0.1239 0.1051 0.2485 0.16 0.26 0.13 0.09 0.1694 0.26 0.12 T 0.597 P 0.149 B . . 1.000 P 0.345 N 2.56 T -0.983 T 0.000 T 0.2 1.286 10.21 1.54 0.062 0.077 3.856 1.286333 1.286333 0.15 0.161587 0.119945 ID=COSM1127775,COSM1127776;OCCURENCE=1(prostate) 0.123 CLINSIG=other;CLNDBN=Carcinoma_of_colon;CLNREVSTAT=single;CLNACC=RCV000009227.3;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0699790:269533000 8.3413464 818 2 233633460 233633460 G A exonic KCNJ13 NA nonsynonymous SNV KCNJ13:NM_001172417:exon3:c.C284T:p.T95I,KCNJ13:NM_002242:exon3:c.C524T:p.T175I exonic ENSG00000115474 NA nonsynonymous SNV ENSG00000115474:ENST00000410029:exon2:c.C524T:p.T175I,ENSG00000115474:ENST00000233826:exon3:c.C524T:p.T175I,ENSG00000115474:ENST00000438786:exon3:c.C284T:p.T95I NA NA 2q37.1 NA NA NA NA rs1801251 0.29 0.29 0.267 0.360024 0.2873 0.3532 0.3055 0.2398 0.6431 0.28 0.32 0.29 0.25 0.3548 0.39 0.06 T 0.0 B 0.0 B 0.875 N 1.000 P 0.55 N 1.88 T -1.107 T 0.000 T 0.395 -1.163 0.094 2.27 -0.082 1.366 10.488 -1.16285 NA 0.39 0.350349 0.264639 ID=COSM149098;OCCURENCE=1(stomach) 0.304 NA 8.3408844 818 12 78334194 78334194 A G exonic NAV3 NA synonymous SNV NAV3:NM_014903:exon2:c.A339G:p.L113L exonic ENSG00000067798 NA synonymous SNV ENSG00000067798:ENST00000228327:exon2:c.A339G:p.L113L,ENSG00000067798:ENST00000266692:exon2:c.A339G:p.L113L,ENSG00000067798:ENST00000397909:exon2:c.A339G:p.L113L,ENSG00000067798:ENST00000536525:exon2:c.A339G:p.L113L,ENSG00000067798:ENST00000549464:exon2:c.A339G:p.L113L Score=646;Name=lod=563 NA 12q21.2 NA Name=TCF4,Pol2,Pol2(b),GATA-2 Name=120 NA rs1382639 0.11 0.11 0.094 0.116014 0.0964 0.1855 0.0865 0.0318 0.1994 0.1 0.19 0.08 0.04 0.1211 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376004 1.376004 NA 0.108317 0.049133 NA 0.217 NA 8.3408496 818 20 30064331 30064331 A G exonic REM1 NA nonsynonymous SNV REM1:NM_014012:exon2:c.A83G:p.H28R exonic ENSG00000088320 NA nonsynonymous SNV ENSG00000088320:ENST00000201979:exon2:c.A83G:p.H28R Score=309;Name=lod=24 NA 20q11.21 Score=882;Name=V$E47_01 NA NA NA rs1006459 0.45 0.45 0.443 0.454673 0.3221 0.2659 0.3386 0.9024 0.2628 0.31 0.28 0.38 0.89 0.3576 0.89 0.36 T 0.0 B 0.0 B 0.952 N 0.894 P 0.345 N -0.15 T -0.995 T 0.000 T 0.013 -0.01 3.961 0.213 -0.017 -0.783 5.039 -0.010297 NA 0.45 0.313953 0.804585 NA 0.42 NA 8.3396804 818 1 7913445 7913445 C T exonic UTS2 NA nonsynonymous SNV UTS2:NM_021995:exon1:c.G47A:p.R16Q exonic ENSG00000049247 NA nonsynonymous SNV ENSG00000049247:ENST00000054668:exon1:c.G47A:p.R16Q NA NA 1p36.23 NA NA NA NA rs13306061 0.11 0.11 0.088 0.0850639 0.1829 0.0357 0.0994 0.0719 0.0429 0.18 0.03 0.12 0.07 0.1353 0.18 0.39 T 0.93 P 0.313 B . . 0.984 P . . 1.3 T -1.045 T 0.000 T 0.054 0.953 8.886 2.75 0.465 -0.074 6.634 0.952879 NA 0 0.177326 0.083069 NA 0.123 NA 8.3378074 818 11 117859209 117859209 G A exonic IL10RA NA synonymous SNV IL10RA:NM_001558:exon2:c.G180A:p.A60A exonic ENSG00000110324 NA synonymous SNV ENSG00000110324:ENST00000227752:exon2:c.G180A:p.A60A,ENSG00000110324:ENST00000526544:exon2:c.G180A:p.A60A,ENSG00000110324:ENST00000541785:exon3:c.G120A:p.A40A NA NA 11q23.3 Score=779;Name=V$HTF_01 Name=EBF Name=7 NA rs4252249 0.11 0.11 0.117 0.125599 0.1123 0.0625 0.1859 0.1694 0.1022 0.11 0.05 0.15 0.17 0.1129 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099291 NA NA 0.106145 0.157428 NA 0.13 NA 8.3353216 819 2 21232195 21232195 G A exonic APOB NA synonymous SNV APOB:NM_000384:exon26:c.C7545T:p.T2515T exonic ENSG00000084674 NA synonymous SNV ENSG00000084674:ENST00000233242:exon26:c.C7545T:p.T2515T Score=371;Name=lod=43 Name=Cholesterol, total,LDL cholesterol,Triglycerides 2p24.1 NA Name=HEY1,FOSL2 NA NA rs693 0.27 0.27 0.255 0.250998 0.4423 0.0615 0.3775 0.2095 0.2157 0.43 0.08 0.4 0.18 0.3899 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266992 NA NA 0.500116 0.245574 NA 0.435 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116389.2;CLNDSDB=.;CLNDSDBID=. 8.3343506 819 7 100550138 100550138 C T intergenic ACHE,MUC12 dist=56597;dist=62766 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.C719T:p.T240M NA NA 7q22.1 NA NA NA NA rs73714233 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.4998 0.48 0.14 T . . . . . . . . 0 N . . -1.035 T 0.037 T 0.116 -0.194 3.057 -2.94 -1.027 -5.602 3.400 -0.1941 NA 0.15 NA NA NA 0.478 NA 8.3335334 819 1 120254567 120254567 T C UTR5 PHGDH NM_006623:c.-79T>C NA NA UTR5 ENSG00000092621 ENST00000369409:c.-79T>C NA NA NA NA 1p12 Score=755;Name=V$TCF11MAFG_01 Name=NF-YB,HEY1,GTF2F1_(RAP-74),CEBPB,TBP,USF2,E2F4,Pol2(b),TAF1,E2F1,Pol2-4H8,ZNF263,TAF7_(SQ-8),Sin3Ak-20,HA-E2F1,Pol2(phosphoS2),SP1,NRSF,RFX5_(N-494),Pol2 Name=142 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237872 NA NA NA NA NA NA NA 8.3333334 819 2 182766624 182766624 C A exonic SSFA2 NA nonsynonymous SNV SSFA2:NM_001130445:exon8:c.C844A:p.P282T,SSFA2:NM_006751:exon8:c.C844A:p.P282T exonic ENSG00000138434 NA nonsynonymous SNV ENSG00000138434:ENST00000428267:exon7:c.C385A:p.P129T,ENSG00000138434:ENST00000320370:exon8:c.C844A:p.P282T,ENSG00000138434:ENST00000409001:exon8:c.C844A:p.P282T,ENSG00000138434:ENST00000431877:exon8:c.C844A:p.P282T NA NA 2q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69 T 0.0 B 0.001 B 0.415 N 0.960 N 0.345 N 2.76 T -0.976 T 0.017 T 0.147 -0.083 3.594 1.56 0.080 0.228 0.793 -0.08308 NA 0.29 NA NA NA NA NA 8.3333334 819 10 70715932 70715932 C A UTR5 DDX21 NM_004728:c.-50C>A NA NA UTR5 ENSG00000165732 ENST00000354185:c.-50C>A NA NA Score=397;Name=lod=55 NA 10q22.1 NA Name=Max,ELF1_(SC-631),Oct-2,GTF2F1_(RAP-74),TAF1,ETS1,E2F6_(H-50),E2F4,POU2F2,GABP,Pol2,Mxi1_(bHLH),PU.1,Pol2(phosphoS2),eGFP-JunD,E2F6,c-Myc,HEY1,PAX5-N19,TCF12,TBP,IRF1,Pol2(b),ELK4,Egr-1,Sin3Ak-20,Pol2-4H8 Name=148 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.008939 2.008939 NA NA NA NA NA NA 8.3333334 819 14 103192965 103192965 G C UTR3 RCOR1 NM_015156:c.*122G>C NA NA UTR3 ENSG00000089902 ENST00000262241:c.*122G>C,ENST00000570597:c.*122G>C NA NA Score=606;Name=lod=386 NA 14q32.31 Score=801;Name=V$SRF_C Name=GATA-2,GATA3_(SC-268) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.316502 2.316502 NA NA NA NA NA NA 8.3333334 819 15 74043552 74043552 G A UTR5 C15orf59 NM_001039614:c.-81C>T NA NA UTR5 ENSG00000205363 ENST00000569673:c.-81C>T,ENST00000379822:c.-81C>T NA NA Score=589;Name=lod=330 NA 15q24.1 Score=855;Name=V$MAZR_01 NA Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.312 1.312 NA NA NA NA NA NA 8.3333334 819 1 145109583 145109583 C A exonic SEC22B NA unknown UNKNOWN ncRNA_exonic ENSG00000223380 NA NA NA Score=669;Name=lod=697 NA 1q21.1 Score=723;Name=V$LUN1_01 Name=BDP1 Name=8 NA rs2794053 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.045514 3.045514 NA NA NA NA 0.486 NA 8.3333333 819 3 170214323 170214323 C T intronic SLC7A14 NA NA NA ncRNA_exonic ENSG00000241416 NA NA NA Score=646;Name=lod=565 NA 3q26.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085113 NA NA NA NA NA NA NA 8.3333333 819 1 33292442 33292442 C T exonic S100PBP NA nonsynonymous SNV S100PBP:NM_001256121:exon3:c.C742T:p.P248S,S100PBP:NM_022753:exon3:c.C742T:p.P248S exonic ENSG00000116497 NA nonsynonymous SNV ENSG00000116497:ENST00000373475:exon3:c.C742T:p.P248S,ENSG00000116497:ENST00000373476:exon3:c.C742T:p.P248S,ENSG00000116497:ENST00000398243:exon3:c.C742T:p.P248S NA NA 1p35.1 NA NA NA NA rs146571632 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0005 . . 0.043 B 0.029 B 0.000 N 1.000 N 0.805 L . . -1.043 T 0.060 T 0.098 1.128 9.597 2.62 0.372 0.074 5.549 1.127564 NA 0 0 0.000454 NA NA NA 8.3332334 819 1 155829478 155829478 C G UTR5 SYT11 NM_152280:c.-75C>G NA NA UTR5 ENSG00000132718 ENST00000368324:c.-75C>G,ENST00000539162:c.-20873C>G NA NA Score=272;Name=lod=17 NA 1q22 Score=772;Name=V$MIF1_01 Name=Pol2,CtBP2,Pol2-4H8,HDAC2_(SC-6296),CEBPB Name=50 NA rs16837068 0.02 0.02 0.022 0.033746 NA 0.001 0.0043 0.1097 0.0204 NA NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181367 NA NA 0.000314 0.065029 NA 0.029 NA 8.3330194 819 14 99183532 99183532 C T exonic C14orf177 NA nonsynonymous SNV C14orf177:NM_182560:exon4:c.C299T:p.S100L exonic ENSG00000176605 NA nonsynonymous SNV ENSG00000176605:ENST00000325812:exon4:c.C299T:p.S100L NA NA 14q32.2 NA NA NA NA rs143969442 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0005 0 D 0.0 B 0.0 B . . 1.000 N 0 N 1.14 T -1.028 T 0.040 T 0.064 1.225 9.968 -0.782 -0.137 -0.077 4.252 1.224784 NA NA 0.000465 0.000227 ID=COSM355766;OCCURENCE=1(lung) NA NA 8.3326684 819 12 9256972 9256972 C T exonic A2M NA nonsynonymous SNV A2M:NM_000014:exon11:c.G1129A:p.V377I exonic ENSG00000175899 NA nonsynonymous SNV ENSG00000175899:ENST00000318602:exon11:c.G1129A:p.V377I NA NA 12p13.31 NA NA NA NA rs200364039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0008 0.0004 0.19 T 0.051 B 0.006 B 0.861 N 1.000 N 1.575 L 1.64 T -1.004 T 0.068 T 0.032 0.621 7.34 0.749 -0.061 -1.206 8.160 0.620724 NA 0.19 0.000365 0 NA NA NA 8.3321684 819 2 152311570 152311570 G A exonic RIF1 NA nonsynonymous SNV RIF1:NM_001177665:exon21:c.G2506A:p.G836S,RIF1:NM_001177663:exon22:c.G2506A:p.G836S,RIF1:NM_001177664:exon22:c.G2506A:p.G836S,RIF1:NM_018151:exon22:c.G2506A:p.G836S exonic ENSG00000080345 NA nonsynonymous SNV ENSG00000080345:ENST00000243326:exon21:c.G2506A:p.G836S,ENSG00000080345:ENST00000430328:exon21:c.G2506A:p.G836S,ENSG00000080345:ENST00000428287:exon22:c.G2506A:p.G836S,ENSG00000080345:ENST00000444746:exon22:c.G2506A:p.G836S,ENSG00000080345:ENST00000453091:exon22:c.G2506A:p.G836S NA NA 2q23.3 NA NA NA NA rs2444263 0.7 0.7 0.696 0.639377 0.6779 0.756 0.7061 0.5756 0.5184 0.66 0.79 0.71 0.63 0.6607 0.79 1 T 0.013 B 0.003 B 0.024 N 1.000 P -1.7 N -4.91 D -0.999 T 0.000 T 0.292 -0.367 2.271 3.18 0.084 1.088 8.741 -0.366915 NA 1 0.662907 0.577394 NA 0.696 NA 8.3318264 819 9 18950895 18950895 T C exonic FAM154A NA nonsynonymous SNV FAM154A:NM_153707:exon2:c.A79G:p.K27E exonic ENSG00000155875 NA nonsynonymous SNV ENSG00000155875:ENST00000380530:exon2:c.A79G:p.K27E,ENSG00000155875:ENST00000380534:exon2:c.A79G:p.K27E Score=536;Name=lod=201 NA 9p22.1 Score=895;Name=V$CDC5_01 NA NA NA rs7021572 0.52 0.52 0.462 0.478035 0.6909 0.5169 0.5865 0.1331 0.6084 0.68 0.54 0.62 0.16 0.6145 0.7 0.18 T 0.084 B 0.069 B 0.119 N 0.000 P 1.15 L 1.62 T -1.007 T 0.000 T 0.052 2.253 13.49 0.28 0.371 1.033 7.766 2.25297 2.25297 0.03 0.696512 0.221743 NA 0.428 NA 8.3314214 819 15 29346257 29346257 C T exonic APBA2 NA nonsynonymous SNV APBA2:NM_001130414:exon3:c.C170T:p.A57V,APBA2:NM_005503:exon3:c.C170T:p.A57V exonic ENSG00000034053 NA nonsynonymous SNV ENSG00000034053:ENST00000558358:exon2:c.C170T:p.A57V,ENSG00000034053:ENST00000411764:exon3:c.C170T:p.A57V,ENSG00000034053:ENST00000558259:exon3:c.C170T:p.A57V,ENSG00000034053:ENST00000560283:exon3:c.C170T:p.A57V,ENSG00000034053:ENST00000558804:exon4:c.C170T:p.A57V,ENSG00000034053:ENST00000561069:exon4:c.C170T:p.A57V,ENSG00000034053:ENST00000558330:exon5:c.C170T:p.A57V,ENSG00000034053:ENST00000558402:exon5:c.C170T:p.A57V Score=313;Name=lod=25 NA 15q13.1 NA NA NA NA rs141358568 0.0014 0.0014 NA 0.000798722 0.001 NA 0.0043 NA NA NA NA 0.01 NA 0.0004 0.01 0.15 T 0.0 B 0.001 B 0.607 N 1.000 N -0.41 N 1.02 T -1.027 T 0.040 T 0.188 0.444 6.412 1.71 0.360 -0.285 9.187 0.444058 NA 0.28 0.000698 0.000681 ID=COSM268249;OCCURENCE=1(ovary),1(large_intestine),1(endometrium) NA NA 8.3312354 819 11 63487782 63487782 C T exonic RTN3 NA nonsynonymous SNV RTN3:NM_001265590:exon2:c.C1472T:p.P491L,RTN3:NM_201428:exon2:c.C1751T:p.P584L,RTN3:NM_001265589:exon3:c.C1808T:p.P603L exonic ENSG00000133318 NA nonsynonymous SNV ENSG00000133318:ENST00000339997:exon2:c.C1751T:p.P584L,ENSG00000133318:ENST00000540798:exon2:c.C1472T:p.P491L,ENSG00000133318:ENST00000377819:exon3:c.C1808T:p.P603L NA NA 11q13.1 NA NA Name=49 NA rs116807490 0.01 0.01 0.007 0.00858626 NA NA 0.0029 0.031 NA NA NA 0.01 0.02 0.0021 0.022 0.41 T 0.021 B 0.013 B 0.025 N 1.000 N 0.145 N 1.98 T -1.023 T 0.015 T 0.048 1.417 10.68 0.155 -0.045 0.003 7.713 1.417322 1.417322 0.45 0 0.021808 NA 0.014 NA 8.3312334 819 14 24705004 24705004 G T exonic GMPR2 NA nonsynonymous SNV GMPR2:NM_016576:exon3:c.G323T:p.G108V,GMPR2:NM_001002000:exon4:c.G269T:p.G90V,GMPR2:NM_001002001:exon4:c.G269T:p.G90V,GMPR2:NM_001002002:exon4:c.G269T:p.G90V exonic ENSG00000100938 NA nonsynonymous SNV ENSG00000100938:ENST00000348719:exon3:c.G269T:p.G90V,ENSG00000100938:ENST00000420554:exon3:c.G323T:p.G108V,ENSG00000100938:ENST00000557854:exon3:c.G323T:p.G108V,ENSG00000100938:ENST00000558279:exon3:c.G107T:p.G36V,ENSG00000100938:ENST00000559104:exon3:c.G323T:p.G108V,ENSG00000100938:ENST00000355299:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000399440:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000559409:exon4:c.G257T:p.G86V,ENSG00000100938:ENST00000559836:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000559910:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000560139:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000561035:exon5:c.G398T:p.G133V NA NA 14q12 Score=830;Name=V$MRF2_01 NA NA NA rs45530636 0.0005 0.0005 NA 0.000599042 0.001 NA 0.0014 NA 0.001 NA NA 0.0028 NA 0.0003 0.0028 0.23 T 0.004 B 0.017 B 0.415 N 1.000 N -0.345 N -1.13 T -0.985 T 0.152 T 0.428 1.998 12.64 -0.053 0.235 0.842 2.511 1.997776 1.997776 0.14 0.000843 0 NA NA NA 8.3311904 819 6 29910742 29910742 G C exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon2:c.G282C:p.Q94H,HLA-A:NM_002116:exon2:c.G282C:p.Q94H exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon2:c.G282C:p.Q94H,ENSG00000206503:ENST00000376806:exon2:c.G282C:p.Q94H,ENSG00000206503:ENST00000376809:exon2:c.G282C:p.Q94H,ENSG00000206503:ENST00000396634:exon4:c.G282C:p.Q94H NA NA 6p22.1 NA Name=CTCF,Pol2-4H8 Name=11 NA rs78306866 0.65 0.65 0.566 0.680711 0.6899 0.6706 0.7133 0.6634 0.682 0.66 0.7 0.67 0.59 0.6575 0.7 1 T 0.001 B 0.003 B 0.008 N 1.000 P -0.835 N 5.76 T -0.981 T 0.000 T 0.13 0.617 7.32 -0.587 -0.256 -3.480 0.498 0.61673 NA 0.89 0.655136 0.605323 NA 0.543 NA 8.3307974 819 5 57754851 57754851 A G exonic PLK2 NA synonymous SNV PLK2:NM_006622:exon2:c.T339C:p.I113I,PLK2:NM_001252226:exon3:c.T297C:p.I99I exonic ENSG00000145632 NA synonymous SNV ENSG00000145632:ENST00000274289:exon2:c.T339C:p.I113I Score=683;Name=lod=797 NA 5q11.2 NA Name=CEBPB,p300_(N-15),Rad21,STAT3,TCF4,JunD Name=105 NA rs702722 0.17 0.17 0.154 0.169728 0.1024 0.2966 0.0692 0.23 0.0982 0.1 0.28 0.07 0.2 0.1212 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.509148 1.509148 NA 0.112674 0.195188 NA 0.159 NA 8.3303926 819 7 99746548 99746548 C T UTR5 LAMTOR4 NM_001008395:c.-48C>T NA NA UTR5 ENSG00000188186 ENST00000341942:c.-48C>T NA NA Score=295;Name=lod=21 NA 7q22.1 Score=885;Name=V$ELK1_02 Name=TBP,USF-1,TCF12,Nrf1,THAP1_(SC-98174),SRF,NFKB,HEY1,ZEB1_(SC-25388),c-Myc,Pol2-4H8,c-Fos,ZNF263,Sin3Ak-20,RFX5_(N-494),CHD2_(N-1250),CEBPB,BHLHE40,NF-YB,ELF1_(SC-631),Max,USF1_(SC-8983),E2F6,Pol2(phosphoS2),SP1,ATF3,Mxi1_(bHLH),Pol2,HMGN3,USF2,GABP,NF-YA,SREBP1,TAF1,GATA-1 Name=148 NA rs112691884 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0011 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.83115 2.83115 NA 0.001977 0.000454 NA NA NA 8.3302564 819 1 145368461 145368461 A C exonic NBPF9 NA unknown UNKNOWN exonic ENSG00000163386 NA nonsynonymous SNV ENSG00000163386:ENST00000369338:exon16:c.A1787C:p.E596A,ENSG00000163386:ENST00000369339:exon17:c.A1793C:p.E598A,ENSG00000163386:ENST00000342960:exon84:c.A10439C:p.E3480A NA NA 1q21.1 NA NA NA NA rs12128680 NA NA 0.442 NA NA NA NA NA NA NA NA NA NA 0.3371 0.011 0.02 D 0.0 B 0.004 B . . 1.000 N 2.65 M 2.94 T -0.967 T 0.013 T 0.14 0.393 6.133 -1.11 -0.323 0.155 2.705 0.392687 NA 0.05 NA NA NA 0.007 NA 8.3295667 819 2 238243285 238243285 G A exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon38:c.C7392T:p.H2464H,COL6A3:NM_057167:exon40:c.C8595T:p.H2865H,COL6A3:NM_004369:exon41:c.C9213T:p.H3071H exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon38:c.C7392T:p.H2464H,ENSG00000163359:ENST00000409809:exon39:c.C8595T:p.H2865H,ENSG00000163359:ENST00000346358:exon40:c.C8613T:p.H2871H,ENSG00000163359:ENST00000347401:exon40:c.C8610T:p.H2870H,ENSG00000163359:ENST00000353578:exon40:c.C8595T:p.H2865H,ENSG00000163359:ENST00000295550:exon41:c.C9213T:p.H3071H Score=304;Name=lod=23 NA 2q37.3 NA Name=PAX5-C20 NA NA rs2270671 0.1 0.1 0.09 0.100439 0.1272 0.0466 0.1153 0.0885 0.1339 0.13 0.04 0.14 0.08 0.1055 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677637 NA NA 0.105233 0.08965 NA 0.072 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081024.3;CLNDSDB=.;CLNDSDBID=. 8.3287336 819 12 125299559 125299559 G A exonic SCARB1 NA nonsynonymous SNV SCARB1:NM_001082959:exon3:c.C386T:p.S129L,SCARB1:NM_005505:exon3:c.C386T:p.S129L exonic ENSG00000073060 NA nonsynonymous SNV ENSG00000073060:ENST00000544327:exon2:c.C224T:p.S75L,ENSG00000073060:ENST00000261693:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000339570:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000415380:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000540495:exon3:c.C275T:p.S92L,ENSG00000073060:ENST00000541205:exon3:c.C263T:p.S88L,ENSG00000073060:ENST00000545493:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000546215:exon3:c.C386T:p.S129L NA NA 12q24.31 NA NA NA NA rs150222965 0.0005 0.0005 NA 0.00199681 NA NA 0.0029 NA 0.0082 NA NA 0.0028 NA 0.0028 0.0028 0.19 T 0.047 B 0.016 B 0.363 N 1.000 N 1.12 L -0.65 T -0.962 T 0.197 T 0.055 1.224 9.966 -4.44 -0.743 -0.241 5.646 1.224264 NA 0.16 0.001977 0.001135 NA NA NA 8.3285564 819 9 130479638 130479638 G A exonic TTC16 NA nonsynonymous SNV TTC16:NM_144965:exon3:c.G217A:p.E73K exonic ENSG00000167094 NA nonsynonymous SNV ENSG00000167094:ENST00000373289:exon3:c.G217A:p.E73K NA NA 9q34.11 NA NA NA NA rs139753825 0.0005 0.0005 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0013 NA NA NA 0.0011 0.0019 0.65 T 0.925 P 0.626 P 0.096 N 1.000 N 1.115 L 0.66 T -0.983 T 0.102 T 0.146 2.39 13.95 0.107 0.120 0.069 7.592 2.38965 2.38965 0.66 0.00186 0 NA NA NA 8.3283734 819 17 61898459 61898459 C T exonic FTSJ3 NA nonsynonymous SNV FTSJ3:NM_017647:exon17:c.G1903A:p.G635S exonic ENSG00000108592 NA nonsynonymous SNV ENSG00000108592:ENST00000427159:exon17:c.G1903A:p.G635S NA NA 17q23.3 NA Name=Pol2 NA NA rs141577537 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0012 0.0028 0.77 T 0.001 B 0.018 B 0.054 N 1.000 N 0 N 1.58 T -0.997 T 0.026 T 0.116 1.825 12.06 -0.723 -0.226 -0.134 4.568 1.824566 1.824566 0.19 0.002209 0.000227 NA NA NA 8.3279244 819 5 1063998 1063998 G A exonic SLC12A7 NA synonymous SNV SLC12A7:NM_006598:exon20:c.C2700T:p.Y900Y exonic ENSG00000113504 NA synonymous SNV ENSG00000113504:ENST00000264930:exon20:c.C2700T:p.Y900Y Score=608;Name=lod=394 NA 5p15.33 NA NA NA NA rs7722287 0.32 0.32 0.316 0.296725 0.4523 0.3175 0.3588 0.0295 0.4325 0.47 0.31 0.38 0.04 0.418 0.47 . . . . . . . . 0.000 P . . . . -0.896 T 0.000 T . 0.457 6.481 3.37 0.773 2.387 7.506 0.456993 NA NA 0.470233 0.10218 ID=COSM448401;OCCURENCE=1(breast) 0.058 NA 8.3261336 819 1 221057646 221057646 C T exonic HLX NA nonsynonymous SNV HLX:NM_021958:exon4:c.C1067T:p.P356L exonic ENSG00000136630 NA nonsynonymous SNV ENSG00000136630:ENST00000549319:exon2:c.C425T:p.P142L,ENSG00000136630:ENST00000366903:exon4:c.C1067T:p.P356L,ENSG00000136630:ENST00000427693:exon4:c.C266T:p.P89L NA NA 1q41 NA NA NA NA rs2738755 0.29 0.29 0.299 0.298722 0.34 0.0952 0.2911 0.4675 0.2434 0.34 0.1 0.27 0.45 0.3164 0.45 0.08 T 0.069 B 0.007 B 0.628 N 1.000 P 0.55 N 3.34 T -0.965 T 0.000 T 0.122 0.652 7.496 2.02 0.264 0.957 7.008 0.651577 NA 0.02 0.350814 0.427599 NA 0.42 NA 8.3261194 819 11 5862532 5862532 A C exonic OR52E6 NA nonsynonymous SNV OR52E6:NM_001005167:exon1:c.T596G:p.M199R exonic ENSG00000205409 NA nonsynonymous SNV ENSG00000205409:ENST00000329322:exon1:c.T596G:p.M199R,ENSG00000205409:ENST00000379946:exon2:c.T608G:p.M203R NA NA 11p15.4 NA NA NA NA rs10742809 0.34 0.34 0.334 0.328275 0.3439 0.4593 0.304 0.2224 0.3374 0.36 0.46 0.32 0.21 0.3378 0.46 0.1 T 0.0 B 0.005 B 0.607 N 0.015 P 0.385 N 8.75 T -1.051 T 0.000 T 0.192 0.777 8.103 3.45 1.430 0.650 10.911 0.777055 NA 0.06 0.325885 0.234212 NA 0.341 NA 8.3257484 819 17 5084904 5084904 G A UTR3 ZNF594 NM_032530:c.*224C>T NA NA UTR3 ENSG00000180626 ENST00000399604:c.*224C>T,ENST00000575779:c.*224C>T NA NA NA NA 17p13.2 NA Name=KAP1,SETDB1 NA NA rs7220607 0.02 0.02 0.028 0.0267572 NA 0.001 0.0029 0.0983 0.001 NA NA 0.0028 0.1 0.0076 0.1 0.03 D . . . . . . 1.000 N . . . . -1.074 T 0.003 T . -0.963 0.32 0.937 0.195 -3.238 4.211 -0.962664 NA 0.11 NA NA NA 0.043 NA 8.3257334 820 2 113831941 113831941 G A exonic IL1F10 NA nonsynonymous SNV IL1F10:NM_032556:exon2:c.G68A:p.R23K,IL1F10:NM_173161:exon3:c.G68A:p.R23K exonic ENSG00000136697 NA nonsynonymous SNV ENSG00000136697:ENST00000393197:exon2:c.G68A:p.R23K,ENSG00000136697:ENST00000341010:exon3:c.G68A:p.R23K NA NA 2q13 NA NA NA NA rs72827872 0.0005 0.0005 NA 0.00199681 0.001 NA 0.0043 NA 0.0061 NA NA 0.0028 NA 0.0036 0.0048 0.58 T 0.001 B 0.001 B 0.026 N 1.000 N 1.445 L 1.38 T -1.030 T 0.085 T 0.109 0.47 6.549 2.8 0.641 0.779 7.568 0.469618 NA 0.09 0.004767 0.001135 NA 0.065 NA 8.3239664 820 2 100915772 100915772 A G exonic LONRF2 NA nonsynonymous SNV LONRF2:NM_198461:exon6:c.T1277C:p.L426P exonic ENSG00000170500 NA nonsynonymous SNV ENSG00000170500:ENST00000393437:exon6:c.T1277C:p.L426P,ENSG00000170500:ENST00000409647:exon6:c.T548C:p.L183P NA NA 2q11.2 NA NA NA NA rs4851287 0.78 0.78 0.776 0.771765 0.675 0.9405 0.7363 0.8903 0.5624 0.66 0.95 0.68 0.85 0.6918 0.95 0.3 T 0.0 B 0.0 B 0.066 N 1.000 P -1.5 N -1.85 D -0.879 T 0.000 T 0.039 -1.017 0.236 3.96 0.878 1.729 7.131 -1.017352 NA 0.18 0.64407 0.833182 NA 0.703 NA 8.3224634 820 15 63433766 63433766 G A exonic LACTB NA nonsynonymous SNV LACTB:NM_032857:exon6:c.G1406A:p.R469K exonic ENSG00000103642 NA nonsynonymous SNV ENSG00000103642:ENST00000261893:exon6:c.G1406A:p.R469K Score=433;Name=lod=77 NA 15q22.2 NA NA NA NA rs2729835 0.7 0.7 0.706 0.709864 0.6571 0.9891 0.5749 0.5719 0.7587 0.65 0.99 0.57 0.55 0.684 0.99 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.355 N 1.14 T -0.954 T 0.000 T 0.054 -0.247 2.811 4.49 0.486 3.610 8.228 -0.246928 NA 1 0.670349 0.606219 NA 0.63 NA 8.3218844 820 13 41533052 41533052 T C exonic ELF1 NA nonsynonymous SNV ELF1:NM_001145353:exon2:c.A173G:p.N58S,ELF1:NM_172373:exon3:c.A173G:p.N58S exonic ENSG00000120690 NA nonsynonymous SNV ENSG00000120690:ENST00000442101:exon2:c.A173G:p.N58S,ENSG00000120690:ENST00000239882:exon3:c.A173G:p.N58S Score=573;Name=lod=283 NA 13q14.11 NA Name=JunD Name=2 NA rs7799 0.46 0.46 0.419 0.430511 0.7147 0.1746 0.67 0.1891 0.5583 0.73 0.19 0.64 0.22 0.6077 0.73 0.23 T 0.015 B 0.026 B 0.003 N 0.794 P 0.75 N 0.87 T -0.996 T 0.000 T 0.005 2.3 13.65 0.352 0.148 0.041 9.591 2.299755 2.299755 0.11 0.689651 0.257149 ID=COSM1366882;OCCURENCE=1(large_intestine) 0.486 NA 8.3212824 820 22 38109227 38109227 C G exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon5:c.C265G:p.P89A exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon5:c.C265G:p.P89A NA NA 22q13.1 NA NA NA NA rs199646135 0.0009 0.0009 NA 0.000798722 NA NA 0.0043 0.0008 NA NA NA 0.01 NA 0.0049 0.01 0 D 0.02 B 0.008 B . . 1.000 N 0.695 N 2.03 T -1.004 T 0.021 T 0.21 1.453 10.8 -0.516 -0.048 0.408 4.03 1.453221 1.453221 0 0.008017 0.000529 NA NA NA 8.3204164 820 8 110457592 110457592 C T exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon38:c.C5494T:p.P1832S exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon38:c.C5494T:p.P1832S NA NA 8q23.1 NA NA NA NA rs148982821 0.0023 0.0023 0.002 0.00139776 0.007 NA NA NA NA 0.01 NA 0.0028 NA 0.0023 0.01 0.58 T 0.0 B 0.002 B 0.031 N 1.000 N -0.805 N -2.39 D -0.829 T 0.199 T 0.122 -0.441 1.951 0.58 0.145 0.518 4.534 -0.441195 NA 0.08 0.003754 0.000517 NA NA NA 8.3202794 820 11 113267947 113267947 C A exonic ANKK1 NA nonsynonymous SNV ANKK1:NM_178510:exon6:c.C840A:p.D280E exonic ENSG00000170209 NA nonsynonymous SNV ENSG00000170209:ENST00000303941:exon6:c.C840A:p.D280E Score=304;Name=lod=23 NA 11q23.2 NA NA NA NA rs138608171 0.0018 0.0018 0.002 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0031 0.01 0.87 T 0.079 B 0.063 B 0.234 N 0.999 N -0.32 N 1.56 T -0.996 T 0.016 T 0.087 -0.222 2.925 -0.612 0.017 0.158 3.197 -0.22226 NA 0.72 0.005347 0.000476 NA NA NA 8.3198864 820 2 97030247 97030247 T C exonic NCAPH NA nonsynonymous SNV NCAPH:NM_015341:exon13:c.T1616C:p.V539A exonic ENSG00000121152 NA nonsynonymous SNV ENSG00000121152:ENST00000427946:exon12:c.T1208C:p.V403A,ENSG00000121152:ENST00000240423:exon13:c.T1616C:p.V539A,ENSG00000121152:ENST00000435975:exon13:c.T1583C:p.V528A,ENSG00000121152:ENST00000455200:exon13:c.T1583C:p.V528A NA NA 2q11.2 NA NA NA NA rs2305935 0.29 0.29 0.311 0.38099 0.3221 0.2758 0.3184 0.2806 0.7301 0.32 0.26 0.31 0.26 0.3577 0.34 0.79 T 0.0 B 0.0 B 0.022 N 1.000 P -0.885 N 1.12 T -0.967 T 0.000 T 0.165 -0.745 0.833 4.16 0.742 2.566 9.591 -0.74464 NA 0.76 0.335 0.283477 ID=COSM148906;OCCURENCE=1(stomach) 0.246 NA 8.3185334 820 9 78938186 78938186 G C exonic PCSK5 NA nonsynonymous SNV PCSK5:NM_001190482:exon31:c.G4240C:p.E1414Q exonic ENSG00000099139 NA nonsynonymous SNV ENSG00000099139:ENST00000424854:exon25:c.G3340C:p.E1114Q,ENSG00000099139:ENST00000545128:exon31:c.G4240C:p.E1414Q NA NA 9q21.13 NA NA NA NA rs2803429 0.31 0.31 0.334 0.321685 0.3529 0.1369 0.2392 0.4667 0.3425 0.36 0.13 0.27 0.49 0.3244 0.49 0.56 T . . . . 0.266 N 1.000 P 0.96 L 1.67 T -0.937 T 0.000 T 0.08 0.109 4.588 -5.44 -1.152 0.431 2.340 0.109191 NA 0.56 0.337519 0.451484 NA 0.283 NA 8.3185144 820 1 152282917 152282917 G T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.C4445A:p.S1482Y exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.C4445A:p.S1482Y NA NA 1q21.3 NA NA NA NA rs11204978 0.26 0.26 0.205 0.287141 0.1421 0.5823 0.3905 0.0113 0.4315 0.15 0.58 0.33 0.02 0.2287 0.58 1 T 0.767 P 0.341 B . . 1.000 P 2.555 M 3.8 T -0.973 T 0.006 T 0.041 0.834 8.364 0.67 0.192 0.247 4.955 0.833852 NA 0.07 0.144186 0.036541 NA 0.174 NA 8.3183474 820 19 9577734 9577734 T C exonic ZNF560 NA nonsynonymous SNV ZNF560:NM_152476:exon10:c.A1889G:p.Y630C exonic ENSG00000198028 NA nonsynonymous SNV ENSG00000198028:ENST00000301480:exon10:c.A1889G:p.Y630C NA NA 19p13.2 NA NA NA NA rs10416098 0.04 0.04 0.04 0.0523163 NA 0.001 0.0115 0.1914 NA NA 0.0017 0.01 0.18 0.0152 0.18 1 T 0.0 B 0.001 B . . 1.000 P -3.705 N 6.46 T -0.949 T 0.000 T 0.047 -1.22 0.063 0.796 0.263 2.048 5.530 -1.219876 NA 1 0.001047 0.167953 NA 0.123 NA 8.3170864 820 12 49724153 49724153 T A exonic TROAP NA nonsynonymous SNV TROAP:NM_005480:exon13:c.T1525A:p.C509S exonic ENSG00000135451 NA nonsynonymous SNV ENSG00000135451:ENST00000547923:exon7:c.T649A:p.C217S,ENSG00000135451:ENST00000257909:exon13:c.T1525A:p.C509S,ENSG00000135451:ENST00000551245:exon13:c.T1525A:p.C509S NA NA 12q13.12 NA NA NA NA rs143183472 0.0018 0.0018 0.001 0.00219649 0.004 NA NA NA 0.0072 0.01 NA NA NA 0.0066 0.01 0.82 T 0.103 B 0.058 B 0.062 N 1.000 N 1.24 L . . -1.026 T 0.051 T 0.169 1.225 9.971 -5.91 -0.919 -0.547 7.711 1.225472 NA 0.87 0.007093 0.000681 NA NA NA 8.3156404 820 1 17030590 17030590 G A ncRNA_exonic ESPNP NA NA NA ncRNA_exonic ENSG00000268869 NA NA NA Score=538;Name=lod=205 NA 1p36.13 Score=838;Name=V$OCT1_Q6 Name=ZNF263 Name=20 NA rs590170 NA NA 0.285 NA NA NA NA NA NA NA NA NA NA 0.3515 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311418 NA NA NA NA NA 0.188 NA 8.3151666 821 19 36530343 36530343 C T exonic THAP8 NA nonsynonymous SNV THAP8:NM_152658:exon3:c.G554A:p.R185Q exonic ENSG00000161277 NA nonsynonymous SNV ENSG00000161277:ENST00000538849:exon2:c.G119A:p.R40Q,ENSG00000161277:ENST00000292894:exon3:c.G554A:p.R185Q NA NA 19q13.12 NA NA NA NA rs10421966 0.3 0.3 0.301 0.258387 0.33 0.3274 0.2233 0.2239 0.1851 0.34 0.34 0.25 0.25 0.3921 0.34 0.49 T 0.0 B 0.0 B 0.884 N 1.000 P 0.205 N 1.87 T -1.115 T 0.000 T 0.026 1.472 10.87 -5.09 -1.335 -0.273 12.629 1.471684 1.471684 0.43 0.297957 0.213006 NA 0.181 NA 8.3132764 821 8 73982161 73982161 A G exonic SBSPON NA nonsynonymous SNV SBSPON:NM_153225:exon4:c.T556C:p.W186R exonic ENSG00000164764 NA nonsynonymous SNV ENSG00000164764:ENST00000297354:exon4:c.T556C:p.W186R Score=343;Name=lod=33 NA 8q21.11 NA NA NA NA rs2291219 0.55 0.55 0.557 0.575679 0.6779 0.2937 0.4697 0.7398 0.6145 0.68 0.25 0.5 0.74 0.637 0.74 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.955 N 2.01 T -0.963 T 0.000 T 0.04 -1.784 0.01 3.22 0.125 2.568 6.948 -1.783795 NA 1 0.70572 0.737976 NA 0.551 NA 8.3127134 821 8 10390452 10390452 C T exonic PRSS55 NA nonsynonymous SNV PRSS55:NM_001197020:exon4:c.C635T:p.A212V,PRSS55:NM_198464:exon4:c.C635T:p.A212V exonic ENSG00000184647 NA nonsynonymous SNV ENSG00000184647:ENST00000328655:exon4:c.C635T:p.A212V,ENSG00000184647:ENST00000522210:exon4:c.C635T:p.A212V NA NA 8p23.1 NA NA NA NA rs4406360 0.34 0.34 0.343 0.341254 0.334 0.4266 0.3329 0.2224 0.4274 0.35 0.41 0.35 0.26 0.3427 0.41 0.43 T 0.108 B 0.015 B 0.378 N 1.000 P -0.08 N -3.04 D -1.048 T 0.000 T 0.059 0.625 7.36 -4.08 -0.461 -0.579 7.151 0.624582 NA 0.89 0.344419 0.246255 NA 0.362 NA 8.3122144 821 1 225152253 225152253 C T exonic DNAH14 NA nonsynonymous SNV DNAH14:NM_001145154:exon5:c.C440T:p.P147L,DNAH14:NM_001373:exon5:c.C440T:p.P147L,DNAH14:NM_144989:exon5:c.C440T:p.P147L exonic ENSG00000185842 NA nonsynonymous SNV ENSG00000185842:ENST00000366848:exon4:c.C440T:p.P147L,ENSG00000185842:ENST00000439375:exon4:c.C440T:p.P147L,ENSG00000185842:ENST00000366849:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000366850:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000400952:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000430092:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000445597:exon6:c.C821T:p.P274L NA NA 1q42.12 NA NA NA NA rs41267349 0.0027 0.0027 NA 0.00359425 0.0089 NA 0.0043 0.0038 0.001 0.01 NA 0.0028 NA 0.0059 0.01 0.06 T 0.059 B 0.027 B 0.717 N 1.000 N . . 2.27 T -1.027 T 0.037 T 0.274 1.792 11.95 0.603 0.254 1.321 2.194 1.792051 1.792051 0.08 0.006522 0.003625 NA NA NA 8.3120114 821 7 76903926 76903926 T C exonic CCDC146 NA nonsynonymous SNV CCDC146:NM_020879:exon11:c.T1397C:p.I466T exonic ENSG00000135205 NA nonsynonymous SNV ENSG00000135205:ENST00000431197:exon10:c.T539C:p.I180T,ENSG00000135205:ENST00000285871:exon11:c.T1397C:p.I466T Score=346;Name=lod=34 NA 7q11.23 NA NA NA NA rs58545343 0.03 0.03 0.028 0.034345 0.004 0.001 0.0101 0.1082 0.0174 0.004 NA 0.01 0.1 0.0133 0.1 0.56 T 0.0 B 0.001 B 0.462 N 0.995 N -0.205 N 1.62 T -1.001 T 0.001 T 0.029 -0.169 3.175 0.702 0.127 0.388 9.306 -0.16909 NA 0.28 0.004419 0.081934 NA 0.022 NA 8.3116144 821 2 131520178 131520178 C G exonic AMER3 NA nonsynonymous SNV AMER3:NM_001105193:exon2:c.C533G:p.A178G,AMER3:NM_001105194:exon2:c.C533G:p.A178G,AMER3:NM_001105195:exon2:c.C533G:p.A178G,AMER3:NM_152698:exon2:c.C533G:p.A178G exonic ENSG00000178171 NA nonsynonymous SNV ENSG00000178171:ENST00000321420:exon2:c.C533G:p.A178G,ENSG00000178171:ENST00000423981:exon2:c.C533G:p.A178G,ENSG00000178171:ENST00000458606:exon2:c.C533G:p.A178G NA NA 2q21.1 NA NA NA NA rs77687733 0.15 0.15 0.136 0.125399 0.1879 0.1379 0.2839 0.0083 0.0941 0.19 0.15 0.28 0.01 0.1674 0.28 0.31 T 0.8 P 0.313 B 0.837 N 1.000 P 0.55 N 0.84 T -1.079 T 0.000 T 0.084 0.277 5.497 -4.14 -0.631 -0.164 4.306 0.276733 NA 0.16 0.167909 0.035876 NA 0.101 NA 8.3101244 821 19 56156447 56156447 A G exonic ZNF581 NA synonymous SNV ZNF581:NM_016535:exon2:c.A510G:p.E170E exonic ENSG00000171425 NA synonymous SNV ENSG00000171425:ENST00000270451:exon2:c.A510G:p.E170E,ENSG00000171425:ENST00000587252:exon2:c.A510G:p.E170E,ENSG00000171425:ENST00000588537:exon2:c.A510G:p.E170E Score=378;Name=lod=46 NA 19q13.42 NA Name=ERalpha_a Name=7 NA rs11084406 0.06 0.06 0.062 0.0559105 0.1093 0.0069 0.0778 0.0174 0.0879 0.09 0.01 0.09 0.03 0.1047 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.13665 NA NA 0.14314 0.03586 NA 0.116 NA 8.3095266 821 21 45107766 45107766 G A exonic RRP1B NA nonsynonymous SNV RRP1B:NM_015056:exon13:c.G1511A:p.G504D exonic ENSG00000160208 NA nonsynonymous SNV ENSG00000160208:ENST00000340648:exon13:c.G1511A:p.G504D NA NA 21q22.3 NA NA NA NA rs61737067 0.05 0.05 0.066 0.0642971 0.004 NA 0.0259 0.2269 NA 0.0013 NA 0.03 0.2 0.0186 0.2 0 D 0.037 B 0.007 B 0.692 N 1.000 P 0.345 N 1.56 T -1.009 T 0.000 T 0.014 0.632 7.397 1.59 0.423 0.421 4.506 0.632044 NA 0.65 0.001748 0.176364 NA 0.087 NA 8.3089854 821 12 114404143 114404143 C T UTR5 RBM19 NM_001146699:c.-111G>A,NM_016196:c.-111G>A,NM_001146698:c.-111G>A NA NA UTR5 ENSG00000122965 ENST00000261741:c.-111G>A NA NA Score=300;Name=lod=22 NA 12q24.21 Score=960;Name=V$USF_C Name=p300,CTCF,RXRA,GTF2F1_(RAP-74),ELF1_(SC-631),STAT1,Max,Oct-2,Pol2(phosphoS2),Mxi1_(bHLH),ATF3,SP1,Pol2,USF1_(SC-8983),YY1_(C-20),ETS1,TAF1,GABP,USF2,HMGN3,POU2F2,Nrf1,USF-1,IRF1,TBP,ZEB1_(SC-25388),HEY1,NFKB,AP-2gamma,CCNT2,c-Myc,SRF,PAX5-C20,YY1,Pol2-4H8,HA-E2F1,Sin3Ak-20,Pol2(b),ELK4,FOXA1_(C-20) Name=148 NA rs2290798 0.08 0.08 0.062 0.077476 0.0268 0.1131 0.2421 0.0461 0.0184 0.03 0.13 0.19 0.03 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210729 NA NA NA NA NA 0.029 NA 8.3065334 821 9 123780005 123780005 G A exonic C5 NA synonymous SNV C5:NM_001735:exon13:c.C1632T:p.Y544Y exonic ENSG00000106804 NA synonymous SNV ENSG00000106804:ENST00000223642:exon13:c.C1632T:p.Y544Y Score=463;Name=lod=102 NA 9q33.2 Score=771;Name=V$PAX2_01 Name=GATA3_(SC-268) Name=4 NA rs25681 0.41 0.41 0.363 0.405751 0.4592 0.5724 0.5 0.0295 0.6207 0.47 0.58 0.5 0.04 0.457 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815529 NA NA 0.445 0.089424 ID=COSM1459729;OCCURENCE=1(large_intestine) 0.348 NA 8.3054666 821 17 41244000 41244000 T C exonic BRCA1 NA nonsynonymous SNV BRCA1:NM_007297:exon9:c.A3407G:p.K1136R,BRCA1:NM_007294:exon10:c.A3548G:p.K1183R,BRCA1:NM_007300:exon10:c.A3548G:p.K1183R exonic ENSG00000012048 NA nonsynonymous SNV ENSG00000012048:ENST00000309486:exon9:c.A2660G:p.K887R,ENSG00000012048:ENST00000493795:exon9:c.A3407G:p.K1136R,ENSG00000012048:ENST00000346315:exon10:c.A3548G:p.K1183R,ENSG00000012048:ENST00000354071:exon10:c.A3548G:p.K1183R,ENSG00000012048:ENST00000357654:exon10:c.A3548G:p.K1183R,ENSG00000012048:ENST00000471181:exon10:c.A3548G:p.K1183R NA NA 17q21.31 NA NA NA NA rs16942 0.32 0.32 0.3 0.352636 0.3549 0.371 0.3746 0.2179 0.498 0.36 0.33 0.4 0.22 0.349 0.4 1 T 0.0 B 0.002 B 0.152 N 1.000 P -1.085 N -0.35 T -1.024 T 0.000 T 0.258 -2.282 0.004 -2.35 -0.437 -0.365 7.827 -2.282426 NA 1 0.324419 0.238311 ID=COSM148277;OCCURENCE=1(stomach) 0.275 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|untested|non-pathogenic;CLNDBN=not_provided|BRCA1_and_BRCA2_Hereditary_Breast_and_Ovarian_Cancer|Breast-ovarian_cancer\x2c_familial_1|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|single|mult|not|single;CLNACC=RCV000034742.2|RCV000048229.3|RCV000112115.2|RCV000120278.1|RCV000128991.1;CLNDSDB=.|GeneReviews:MedGen|GeneReviews:MedGen:OMIM:Orphanet|.|MedGen;CLNDSDBID=.|NBK1247:C0677776|NBK1247:C2676676:604370:ORPHA145|.|C0027672 8.3050144 822 9 78938043 78938043 G A exonic PCSK5 NA nonsynonymous SNV PCSK5:NM_001190482:exon31:c.G4097A:p.R1366H exonic ENSG00000099139 NA nonsynonymous SNV ENSG00000099139:ENST00000424854:exon25:c.G3197A:p.R1066H,ENSG00000099139:ENST00000545128:exon31:c.G4097A:p.R1366H NA NA 9q21.13 Score=845;Name=V$GR_Q6 NA NA NA rs2495207 0.31 0.31 0.344 0.320487 0.3529 0.1369 0.2349 0.4667 0.3395 0.36 0.13 0.27 0.49 0.3385 0.49 0.14 T . . . . 0.684 N 1.000 P 1.91 M 1.6 T -0.908 T 0.000 T 0.074 1.977 12.57 -1.45 0.077 -0.184 7.608 1.9769 1.9769 0.06 0.338021 0.452626 NA 0.283 NA 8.3039124 822 19 610273 610273 G A exonic HCN2 NA synonymous SNV HCN2:NM_001194:exon5:c.G1452A:p.E484E exonic ENSG00000099822 NA synonymous SNV ENSG00000099822:ENST00000251287:exon5:c.G1452A:p.E484E Score=584;Name=lod=314 NA 19p13.3 NA Name=ERalpha_a Name=26 NA rs34397648 0.08 0.08 0.066 0.0974441 0.1262 0.0099 0.1758 0.0688 0.1411 0.13 0.01 0.14 0.06 0.117 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.216797 NA NA 0.122442 0.071266 NA 0.123 NA 8.3010246 822 21 39671199 39671199 A G exonic KCNJ15 NA nonsynonymous SNV KCNJ15:NM_001276438:exon3:c.A16G:p.I6V,KCNJ15:NM_170736:exon3:c.A16G:p.I6V,KCNJ15:NM_170737:exon3:c.A16G:p.I6V,KCNJ15:NM_001276437:exon4:c.A16G:p.I6V,KCNJ15:NM_001276439:exon4:c.A16G:p.I6V,KCNJ15:NM_002243:exon4:c.A16G:p.I6V,KCNJ15:NM_001276435:exon5:c.A16G:p.I6V,KCNJ15:NM_001276436:exon5:c.A16G:p.I6V exonic ENSG00000157551 NA nonsynonymous SNV ENSG00000157551:ENST00000419868:exon2:c.A16G:p.I6V,ENSG00000157551:ENST00000398927:exon3:c.A16G:p.I6V,ENSG00000157551:ENST00000398934:exon3:c.A16G:p.I6V,ENSG00000157551:ENST00000398938:exon3:c.A16G:p.I6V,ENSG00000157551:ENST00000438657:exon3:c.A16G:p.I6V,ENSG00000157551:ENST00000547595:exon3:c.A16G:p.I6V,ENSG00000157551:ENST00000548700:exon3:c.A16G:p.I6V,ENSG00000157551:ENST00000328656:exon4:c.A16G:p.I6V,ENSG00000157551:ENST00000398928:exon4:c.A16G:p.I6V,ENSG00000157551:ENST00000398930:exon4:c.A16G:p.I6V,ENSG00000157551:ENST00000398932:exon4:c.A16G:p.I6V,ENSG00000157551:ENST00000551422:exon4:c.A16G:p.I6V,ENSG00000157551:ENST00000398925:exon5:c.A16G:p.I6V,ENSG00000157551:ENST00000417042:exon5:c.A16G:p.I6V,ENSG00000157551:ENST00000547341:exon5:c.A16G:p.I6V,ENSG00000157551:ENST00000549932:exon5:c.A16G:p.I6V,ENSG00000157551:ENST00000549158:exon6:c.A16G:p.I6V,ENSG00000157551:ENST00000443341:exon7:c.A16G:p.I6V,ENSG00000157551:ENST00000549805:exon7:c.A16G:p.I6V NA NA 21q22.13 NA NA NA NA rs79109585 0.0046 0.0046 0.002 0.00279553 0.0109 0.001 NA 0.0015 NA 0.01 NA NA NA 0.0089 0.013 0.75 T 0.0 B 0.0 B 0.001 N 1.000 N 0.345 N 0.82 T -0.359 T 0.433 T 0.199 -1.108 0.136 -2.5 -0.633 0.021 2.482 -1.108274 NA 0.28 0.012558 0.002724 NA NA NA 8.3009754 822 8 144621084 144621084 T G exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.A453C:p.E151D exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.A453C:p.E151D NA NA 8q24.3 NA NA NA NA rs3750207 0.39 0.39 0.398 0.416534 0.3479 0.2133 0.4654 0.5779 0.4438 0.37 0.24 0.44 0.56 0.3693 0.56 1 T 0.0 B 0.0 B 0.221 N 1.000 P -1.7 N 4.26 T -1.013 T 0.000 T 0.033 -2.25 0.004 -2.42 -0.336 -2.351 2.072 -2.250215 NA 1 0.316457 0.52634 NA 0.399 NA 8.2996764 822 2 63401820 63401820 T C exonic WDPCP NA nonsynonymous SNV WDPCP:NM_015910:exon15:c.A2063G:p.N688S exonic ENSG00000143951 NA nonsynonymous SNV ENSG00000143951:ENST00000398544:exon9:c.A1586G:p.N529S,ENSG00000143951:ENST00000409120:exon9:c.A1487G:p.N496S,ENSG00000143951:ENST00000409199:exon9:c.A1487G:p.N496S,ENSG00000143951:ENST00000272321:exon15:c.A2063G:p.N688S NA NA 2p15 NA NA NA NA rs61734468 0.0046 0.0046 0.001 0.00299521 0.007 NA 0.0043 NA 0.0051 0.01 NA 0.01 NA 0.0099 0.017 0.59 T 0.002 B 0.003 B 0.420 N 1.000 N 0.895 L -0.06 T -1.031 T 0.094 T 0.006 -0.217 2.949 2.75 0.871 0.137 6.046 -0.217137 NA 0.02 0.016883 0.003254 NA 0.007 NA 8.2995504 822 9 33558113 33558113 C G exonic ANKRD18B NA nonsynonymous SNV ANKRD18B:NM_001244752:exon12:c.C2199G:p.D733E exonic ENSG00000230453 NA nonsynonymous SNV ENSG00000230453:ENST00000357927:exon4:c.C345G:p.D115E,ENSG00000230453:ENST00000290943:exon12:c.C2202G:p.D734E NA NA 9p13.3 NA NA NA NA rs142538183 0.01 0.01 0.005 0.0071885 0.0169 NA 0.0216 NA 0.0041 0.01 NA 0.03 NA 0.0172 0.03 1 T . . . . . . 1.000 N . . 3.31 T -0.972 T 0.007 T 0.025 -1.864 0.008 -0.345 -0.108 -2.396 2.953 -1.863676 NA 0.96 NA NA NA 0.014 NA 8.2992334 822 19 50475208 50475208 C T ncRNA_intronic SIGLEC16 NA NA NA ncRNA_exonic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs12462966 0.21 0.21 0.15 0.195487 0.1789 0.3323 0.1571 0.1717 0.1309 0.17 0.3 0.17 0.19 0.1893 0.3 0.1 T . . . . 0.008 N 1.000 P . . . . -1.037 T 0.000 T . -0.091 3.555 -3.83 -1.365 -2.417 0.579 -0.090883 NA 0.21 NA NA NA 0.116 NA 8.2984666 822 18 12308793 12308793 G C exonic TUBB6 NA synonymous SNV TUBB6:NM_032525:exon2:c.G165C:p.S55S exonic ENSG00000176014 NA synonymous SNV ENSG00000176014:ENST00000317702:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000586653:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000586810:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000590103:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000590388:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000590967:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000591208:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000591909:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000592683:exon2:c.G165C:p.S55S,ENSG00000176014:ENST00000590693:exon3:c.G165C:p.S55S NA NA 18p11.21 Score=943;Name=V$AP1_01 Name=BATF,FOSL1_(SC-183),E2F6,eGFP-JunD,Pol2(phosphoS2),PU.1,Pol2,E2F4,E2F6_(H-50),TAF1,TBP,TCF12,eGFP-FOS,HEY1,AP-2gamma,c-Myc,c-Fos,E2F1,HDAC2_(SC-6296),c-Jun,Sin3Ak-20,HA-E2F1,NANOG_(SC-33759),Ini1,AP-2alpha,FOSL2,JunD,eGFP-JunB Name=141 NA rs11267036 0.14 0.14 0.128 0.129393 0.1322 0.1478 0.1801 0.084 0.1329 0.14 0.17 0.16 0.09 0.1243 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253232 NA NA 0.112558 0.080799 NA 0.181 NA 8.2976086 822 19 57066013 57066013 C T exonic ZFP28 NA nonsynonymous SNV ZFP28:NM_020828:exon8:c.C1859T:p.A620V exonic ENSG00000196867 NA nonsynonymous SNV ENSG00000196867:ENST00000301318:exon8:c.C1859T:p.A620V NA NA 19q13.43 NA Name=ZNF274 NA NA rs10409531 0.37 0.37 0.391 0.408946 0.3509 0.2986 0.304 0.5953 0.4049 0.35 0.28 0.31 0.58 0.3522 0.58 0.13 T 0.261 B 0.133 B 0.043 N 1.000 P 0.535 N 3.17 T -1.010 T 0.000 T 0.071 1.567 11.19 0.896 0.536 -1.939 6.573 1.566773 1.566773 0.28 0.333372 0.551975 ID=COSM148775;OCCURENCE=1(stomach) 0.428 NA 8.2968614 822 19 36207510 36207510 G A exonic ZBTB32 NA synonymous SNV ZBTB32:NM_014383:exon6:c.G1320A:p.L440L exonic ENSG00000011590 NA synonymous SNV ENSG00000011590:ENST00000262630:exon6:c.G1320A:p.L440L,ENSG00000011590:ENST00000392197:exon7:c.G1320A:p.L440L Score=613;Name=lod=414 NA 19q13.12 NA Name=E2F6_(H-50),TAF1,Pol2,E2F6,YY1_(C-20),Max,Pol2-4H8,c-Myc,USF-1,Nrf1 Name=24 NA rs1052491 0.05 0.05 0.044 0.0417332 0.1272 NA 0.0591 0.0068 0.0317 0.11 NA 0.06 0.01 0.1006 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.725828 1.725828 NA 0.143638 0.032683 NA 0.014 NA 8.2952286 823 9 96026243 96026243 G A exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon15:c.G3624A:p.T1208T exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000297954:exon15:c.G3624A:p.T1208T,ENSG00000165238:ENST00000349097:exon15:c.G2460A:p.T820T,ENSG00000165238:ENST00000395477:exon15:c.G3624A:p.T1208T,ENSG00000165238:ENST00000427277:exon15:c.G2460A:p.T820T NA NA 9q22.31 NA NA NA NA rs55981123 0.11 0.11 0.108 0.102636 0.1431 0.001 0.1124 0.1762 0.0593 0.14 0.0017 0.12 0.18 0.1101 0.18 . . . . . . . . 0.000 P . . . . -1.074 T 0.000 T . 1.059 9.325 -10.3 -2.243 -1.789 4.501 1.058954 NA NA 0.119186 0.164775 ID=COSM1463684,COSM1463683;OCCURENCE=1(large_intestine) 0.109 NA 8.2942806 823 19 58850357 58850357 G A exonic ZSCAN22 NA nonsynonymous SNV ZSCAN22:NM_181846:exon3:c.G1141A:p.E381K exonic ENSG00000182318 NA nonsynonymous SNV ENSG00000182318:ENST00000329665:exon3:c.G1141A:p.E381K NA NA 19q13.43 NA NA NA NA rs138944686 0.02 0.02 0.019 0.013778 0.0209 NA 0.0202 0.025 0.001 0.02 NA 0.02 0.03 0.0087 0.03 0.32 T 0.168 B 0.012 B . . 1.000 N -0.91 N 3.28 T -0.933 T 0.002 T 0.076 0.801 8.214 0.353 0.344 -2.584 0.724 0.801043 NA 0.02 0.010116 0.01566 NA 0.014 NA 8.2936174 823 10 50122181 50122181 C A exonic LRRC18 NA nonsynonymous SNV LRRC18:NM_001006939:exon1:c.G20T:p.G7V exonic ENSG00000165383 NA nonsynonymous SNV ENSG00000165383:ENST00000374160:exon1:c.G20T:p.G7V,ENSG00000165383:ENST00000298124:exon2:c.G20T:p.G7V Score=489;Name=lod=130 NA 10q11.23 Score=816;Name=V$HNF4_01 NA NA NA rs7094610 0.37 0.37 0.364 0.363019 0.339 0.7202 0.2925 0.0772 0.456 0.34 0.71 0.31 0.09 0.3558 0.71 . . 0.034 B 0.019 B 0.305 N 0.000 P 1.085 L 0.53 T -0.959 T 0.000 T 0.067 0.247 5.337 0.75 -0.111 0.085 14.460 0.247427 NA 0.29 0.345698 0.113255 NA 0.355 NA 8.2928354 823 3 184550501 184550501 A G exonic VPS8 NA nonsynonymous SNV VPS8:NM_001009921:exon4:c.A247G:p.I83V,VPS8:NM_015303:exon4:c.A247G:p.I83V exonic ENSG00000156931 NA nonsynonymous SNV ENSG00000156931:ENST00000452666:exon2:c.A94G:p.I32V,ENSG00000156931:ENST00000424463:exon3:c.A247G:p.I83V,ENSG00000156931:ENST00000287546:exon4:c.A247G:p.I83V,ENSG00000156931:ENST00000436792:exon4:c.A247G:p.I83V,ENSG00000156931:ENST00000437079:exon4:c.A247G:p.I83V,ENSG00000156931:ENST00000441141:exon4:c.A247G:p.I83V,ENSG00000156931:ENST00000445089:exon4:c.A247G:p.I83V,ENSG00000156931:ENST00000446204:exon4:c.A247G:p.I83V,ENSG00000156931:ENST00000422105:exon5:c.A247G:p.I83V Score=514;Name=lod=163 NA 3q27.2 NA NA NA NA rs9830734 0.51 0.51 0.509 0.553914 0.3151 0.6657 0.4452 0.7103 0.5501 0.33 0.64 0.47 0.68 0.4371 0.68 0.43 T 0.0 B 0.001 B 0.002 N 0.998 P 0 N 2.27 T -1.023 T 0.000 T 0.051 -0.682 1.03 2.98 0.093 0.871 8.947 -0.682044 NA 1 0.288681 0.646887 NA 0.565 NA 8.2924524 823 5 96116808 96116808 G A exonic ERAP1 NA synonymous SNV ERAP1:NM_001040458:exon17:c.C2542T:p.L848L,ERAP1:NM_001198541:exon17:c.C2542T:p.L848L,ERAP1:NM_016442:exon17:c.C2542T:p.L848L exonic ENSG00000164307 NA synonymous SNV ENSG00000164307:ENST00000296754:exon17:c.C2542T:p.L848L,ENSG00000164307:ENST00000443439:exon17:c.C2542T:p.L848L NA NA 5q15 Score=829;Name=V$HNF1_C Name=c-Jun,c-Fos Name=108 NA rs17481856 0.06 0.06 0.052 0.0597045 0.1382 NA 0.1138 0.0053 0.0757 0.13 NA 0.12 0.01 0.1011 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529771 NA NA 0.13593 0.023377 NA 0.159 NA 8.2914366 823 19 7573297 7573297 T C exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon9:c.T1499C:p.L500P exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon9:c.T1499C:p.L500P NA NA 19p13.2 Score=812;Name=V$CDPCR3_01 NA NA NA rs608144 0.33 0.33 0.323 0.300919 0.3618 0.1746 0.3847 0.3434 0.2515 0.37 0.2 0.42 0.37 0.3254 0.42 1 T 0.0 B 0.0 B 0.002 N 0.951 P -1.905 N 3.14 T -0.934 T 0.000 T 0.095 -2.673 0 2.58 0.543 0.574 4.738 -2.672641 NA 1 0.355349 0.335377 NA 0.413 NA 8.2907844 823 2 113832333 113832333 C A exonic IL1F10 NA nonsynonymous SNV IL1F10:NM_032556:exon3:c.C152A:p.A51D,IL1F10:NM_173161:exon4:c.C152A:p.A51D exonic ENSG00000136697 NA nonsynonymous SNV ENSG00000136697:ENST00000337569:exon3:c.C152A:p.A51D,ENSG00000136697:ENST00000393197:exon3:c.C152A:p.A51D,ENSG00000136697:ENST00000341010:exon4:c.C152A:p.A51D Score=473;Name=lod=112 NA 2q13 NA NA NA NA rs6743376 0.7 0.7 0.684 0.725439 0.6938 0.6825 0.7118 0.7322 0.8027 0.69 0.7 0.69 0.74 0.6931 0.78 0.88 T 0.0 B 0.0 B 0.175 N 1.000 P -1.805 N 2.36 T -0.994 T 0.000 T 0.038 -0.247 2.81 3.91 0.348 2.133 5.787 -0.247094 NA 1 0.655814 0.728779 NA 0.717 NA 8.2906194 823 1 228464276 228464276 T C exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000359599:exon11:c.T2887C:p.F963L,ENSG00000154358:ENST00000284548:exon22:c.T6346C:p.F2116L,ENSG00000154358:ENST00000422127:exon22:c.T6346C:p.F2116L,ENSG00000154358:ENST00000570156:exon26:c.T7471C:p.F2491L Score=265;Name=lod=16 NA 1q42.13 NA Name=E2F6_(H-50) NA NA rs1188722 0.69 0.69 0.649 0.663538 0.663 0.75 0.6931 0.733 0.4601 0.66 0.73 0.69 0.68 0.6843 0.73 1 T 0.001 B 0.001 B 0.001 N 0.000 P -2.96 N 3.98 T -0.984 T 0.000 T 0.115 1.103 9.5 4.23 0.593 0.888 11.771 1.103008 NA 1 0.695965 0.734574 NA 0.543 NA 8.2900684 823 17 73570695 73570695 G A exonic LLGL2 NA nonsynonymous SNV LLGL2:NM_001031803:exon25:c.G3001A:p.G1001S exonic ENSG00000073350 NA nonsynonymous SNV ENSG00000073350:ENST00000392550:exon25:c.G3001A:p.G1001S,ENSG00000073350:ENST00000577200:exon25:c.G3001A:p.G1001S NA NA 17q25.1 NA NA NA NA rs35886912 0.0037 0.0037 0.002 0.00459265 0.0119 NA 0.0086 0.0023 0.002 0.01 NA 0.01 0.0041 0.0132 0.019 0.8 T 0.043 B 0.011 B 0.085 N 1.000 N . . 3.69 T -0.909 T 0.004 T 0.172 -0.506 1.685 1.42 0.243 -1.024 10.525 -0.505524 NA 0.48 0.018837 0.004993 NA NA NA 8.2893964 823 16 89350911 89350911 G C exonic ANKRD11 NA nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.C2039G:p.T680S,ANKRD11:NM_013275:exon9:c.C2039G:p.T680S,ANKRD11:NM_001256182:exon10:c.C2039G:p.T680S exonic ENSG00000167522 NA nonsynonymous SNV ENSG00000167522:ENST00000301030:exon9:c.C2039G:p.T680S,ENSG00000167522:ENST00000378330:exon10:c.C2039G:p.T680S NA NA 16q24.3 NA NA NA NA rs145694621 0.01 0.01 0.006 0.00439297 0.0139 NA 0.0014 NA 0.0072 0.02 NA NA NA 0.0109 0.02 0.73 T 0.003 B 0.003 B 0.405 N 1.000 N 0.755 N 1.29 T -1.056 T 0.023 T 0.033 -1.566 0.015 -3.35 -0.366 0.687 1.940 -1.565862 NA 0 0.019302 0.003185 NA NA NA 8.2892314 823 1 167825449 167825449 T C exonic ADCY10 NA nonsynonymous SNV ADCY10:NM_001167749:exon14:c.A1666G:p.I556V,ADCY10:NM_018417:exon17:c.A2125G:p.I709V exonic ENSG00000143199 NA nonsynonymous SNV ENSG00000143199:ENST00000545172:exon14:c.A1666G:p.I556V,ENSG00000143199:ENST00000367848:exon17:c.A1849G:p.I617V,ENSG00000143199:ENST00000367851:exon17:c.A2125G:p.I709V Score=300;Name=lod=22 NA 1q24.2 NA NA NA NA rs112466731 0.01 0.01 0.008 0.00539137 0.0199 0.001 0.0029 NA 0.0041 0.02 NA 0.01 NA 0.0104 0.022 1 T 0.0 B 0.002 B 0.290 N 1.000 N -2.08 N 1.63 T -0.917 T 0.004 T 0.022 -2.02 0.006 1.34 0.096 0.933 7.301 -2.020195 NA 1 0.014535 0.003177 NA 0.014 NA 8.2884984 823 15 40477831 40477831 G A exonic BUB1B NA nonsynonymous SNV BUB1B:NM_001211:exon8:c.G1046A:p.R349Q exonic ENSG00000156970 NA nonsynonymous SNV ENSG00000156970:ENST00000287598:exon8:c.G1046A:p.R349Q,ENSG00000156970:ENST00000412359:exon8:c.G1088A:p.R363Q Score=529;Name=lod=189 NA 15q15.1 NA NA NA NA rs1801376 0.62 0.62 0.631 0.628195 0.6928 0.3462 0.6052 0.8593 0.5562 0.7 0.35 0.61 0.83 0.6566 0.83 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.175 N 2.74 T -0.980 T 0.000 T 0.109 0.564 7.048 4.72 0.466 3.438 8.975 0.563973 NA 1 0.69593 0.814117 NA 0.71 NA 8.2880034 823 14 21469151 21469151 T C exonic SLC39A2 NA nonsynonymous SNV SLC39A2:NM_014579:exon4:c.T343C:p.F115L exonic ENSG00000165794 NA nonsynonymous SNV ENSG00000165794:ENST00000298681:exon4:c.T343C:p.F115L NA NA 14q11.2 NA NA NA NA rs2234636 0.32 0.32 0.288 0.319888 0.333 0.373 0.487 0.1536 0.3579 0.33 0.38 0.45 0.13 0.361 0.45 1 T 0.0 B 0.001 B 0.803 N 0.999 P -0.935 N 0.97 T -0.968 T 0.000 T 0.074 -0.857 0.533 -10.9 -2.518 -1.414 15.491 -0.856861 NA 1 0.351628 0.18384 NA 0.319 NA 8.2877054 823 8 27729532 27729532 G A exonic SCARA5 NA synonymous SNV SCARA5:NM_173833:exon9:c.C1407T:p.I469I exonic ENSG00000168079 NA synonymous SNV ENSG00000168079:ENST00000380385:exon8:c.C732T:p.I244I,ENSG00000168079:ENST00000354914:exon9:c.C1407T:p.I469I Score=565;Name=lod=263 NA 8p21.1 Score=864;Name=V$YY1_01 Name=Pol2 NA NA rs61737291 0.14 0.14 0.134 0.152157 0.1243 0.245 0.0908 0.1074 0.1892 0.11 0.23 0.11 0.13 0.1327 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080716 NA NA 0.122442 0.113028 NA 0.217 NA 8.2872246 823 20 31889183 31889183 T C exonic BPIFB1 NA nonsynonymous SNV BPIFB1:NM_033197:exon9:c.T892C:p.S298P exonic ENSG00000125999 NA nonsynonymous SNV ENSG00000125999:ENST00000253354:exon9:c.T892C:p.S298P NA NA 20q11.21 NA NA Name=28 NA rs6120221 0.11 0.11 0.126 0.132987 0.004 NA 0.0418 0.4788 NA 0.01 NA 0.05 0.43 0.0396 0.43 1 T 0.0 B 0.0 B 0.013 N 1.000 P -2.125 N 3.25 T -0.971 T 0.000 T 0.058 -1.171 0.088 0.571 -0.141 0.368 3.555 -1.171219 NA 1 0.003256 0.400136 NA 0.116 NA 8.2864774 823 22 42423110 42423110 G C exonic WBP2NL NA nonsynonymous SNV WBP2NL:NM_152613:exon6:c.G855C:p.Q285H exonic ENSG00000183066 NA nonsynonymous SNV ENSG00000183066:ENST00000543212:exon4:c.G633C:p.Q211H,ENSG00000183066:ENST00000412113:exon5:c.G747C:p.Q249H,ENSG00000183066:ENST00000328823:exon6:c.G855C:p.Q285H,ENSG00000183066:ENST00000329620:exon6:c.G855C:p.Q285H,ENSG00000183066:ENST00000436265:exon6:c.G855C:p.Q285H NA NA 22q13.2 NA NA NA NA rs2301521 0.78 0.78 0.801 0.777756 0.671 0.8542 0.7046 0.9455 0.6339 0.67 0.84 0.71 0.93 0.7059 0.93 0.61 T 0.0 B 0.0 B . . 1.000 P -0.55 N 2.22 T -1.048 T 0.000 T 0.056 -1.653 0.012 -7.78 -4.641 -3.008 0.360 -1.653181 NA 0.36 0.670698 0.899682 NA 0.79 NA 8.2857354 824 2 203421199 203421199 G A exonic BMPR2 NA synonymous SNV BMPR2:NM_001204:exon12:c.G2811A:p.R937R exonic ENSG00000204217 NA synonymous SNV ENSG00000204217:ENST00000374580:exon12:c.G2811A:p.R937R Score=584;Name=lod=314 NA 2q33.2 Score=844;Name=V$GR_Q6 Name=GR NA NA rs1061157 0.09 0.09 0.063 0.116414 0.1362 0.1042 0.1052 0.0045 0.2679 0.14 0.07 0.1 0.01 0.1203 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369132 NA NA 0.126163 0.024512 NA 0.065 NA 8.2840036 824 19 20807053 20807053 T G UTR3 ZNF626 NM_001076675:c.*43A>C NA NA ncRNA_UTR3 ENSG00000188171 NA NA NA Score=251;Name=lod=14 NA 19p12 NA NA NA NA rs112700497 0.07 0.07 0.053 0.0848642 0.0636 0.0625 0.0245 0.1104 0.138 0.07 0.06 0.03 0.1 0.078 0.1 0.01 D . . . . . . . . . . . . -1.016 T 0.005 T . -0.327 2.447 0.898 0.243 2.772 5.561 -0.327184 NA NA 0.074528 0.094795 NA 0.014 NA 8.283872 824 1 247836207 247836207 T A exonic OR13G1 NA nonsynonymous SNV OR13G1:NM_001005487:exon1:c.A137T:p.K46I exonic ENSG00000197437 NA nonsynonymous SNV ENSG00000197437:ENST00000359688:exon1:c.A137T:p.K46I NA NA 1q44 NA NA NA NA rs28711149 0.31 0.31 0.306 0.329473 0.3519 0.376 0.2392 0.2965 0.3671 0.35 0.32 0.24 0.28 0.3383 0.36 1 T 0.0 B 0.0 B 0.019 N 1.000 P -4.03 N 5.12 T -0.968 T 0.000 T 0.094 -0.569 1.436 3.19 0.297 3.177 4.936 -0.568925 NA 1 0.360233 0.297776 NA 0.377 NA 8.2829004 824 10 71026510 71026510 C A exonic HKDC1 NA nonsynonymous SNV HKDC1:NM_025130:exon18:c.C2751A:p.N917K exonic ENSG00000156510 NA nonsynonymous SNV ENSG00000156510:ENST00000354624:exon18:c.C2751A:p.N917K NA NA 10q22.1 NA NA NA NA rs906219 0.36 0.36 0.335 0.336262 0.3559 0.5942 0.4914 0.1104 0.2454 0.36 0.55 0.43 0.1 0.3412 0.55 0.02 D 0.0 B 0.0 B 0.572 N 1.000 P 0 N -4.22 D -0.987 T 0.000 T 0.088 2.17 13.21 0.702 0.029 0.590 4.536 2.169602 2.169602 0.03 0.353372 0.155924 NA 0.261 NA 8.2828614 824 1 247835674 247835674 G A exonic OR13G1 NA nonsynonymous SNV OR13G1:NM_001005487:exon1:c.C670T:p.R224C exonic ENSG00000197437 NA nonsynonymous SNV ENSG00000197437:ENST00000359688:exon1:c.C670T:p.R224C NA NA 1q44 NA NA NA NA rs28446289 0.31 0.31 0.312 0.330871 0.3519 0.3839 0.2392 0.2958 0.3671 0.35 0.33 0.24 0.28 0.3384 0.36 0.01 D 0.112 B 0.052 B 0.054 N 1.000 P 2.865 M 8.38 T -0.937 T 0.000 T 0.082 0.668 7.576 1.11 0.122 0.339 6.393 0.66778 NA 0.01 0.360233 0.297776 NA 0.377 NA 8.2828004 824 2 170062977 170062977 T C exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon39:c.A7253G:p.E2418G exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon39:c.A7253G:p.E2418G NA NA 2q31.1 NA NA NA NA rs61995915 0.01 0.01 0.003 0.00539137 0.0209 NA 0.0014 NA 0.0051 0.02 NA 0.0028 NA 0.0129 0.02 0.54 T 0.001 B 0.001 B 0.608 N 1.000 N 0.035 N -2.68 D -0.815 T 0.224 T 0.05 -1.011 0.245 0.591 0.086 0.368 0.934 -1.010787 NA 0.39 0.016744 0.002951 NA NA NA 8.2827894 824 8 101608919 101608919 T C exonic SNX31 NA nonsynonymous SNV SNX31:NM_152628:exon10:c.A926G:p.Q309R exonic ENSG00000174226 NA nonsynonymous SNV ENSG00000174226:ENST00000428383:exon7:c.A629G:p.Q210R,ENSG00000174226:ENST00000311812:exon10:c.A926G:p.Q309R Score=278;Name=lod=18 NA 8q22.3 Score=894;Name=V$CP2_01 NA NA NA rs2248609 0.36 0.36 0.341 0.383786 0.3539 0.1835 0.4611 0.5416 0.3528 0.35 0.19 0.45 0.53 0.3547 0.53 0.55 T 0.023 B 0.015 B 0.083 N 0.916 P 1.43 L 2.19 T -0.918 T 0.000 T 0.039 -0.774 0.748 0.908 0.005 0.177 7.760 -0.773849 NA 0.55 0.342326 0.533591 NA 0.362 NA 8.2824074 824 3 97983561 97983561 G C exonic OR5H6 NA nonsynonymous SNV OR5H6:NM_001005479:exon1:c.G433C:p.A145P exonic ENSG00000230301 NA nonsynonymous SNV ENSG00000230301:ENST00000383696:exon1:c.G433C:p.A145P Score=446;Name=lod=87 NA 3q11.2 Score=823;Name=V$OCT1_01 NA NA NA rs9289564 0.71 0.71 0.735 0.704673 0.6909 0.621 0.6254 0.8737 0.6329 0.69 0.68 0.59 0.88 0.681 0.88 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.54 N 8.7 T -0.969 T 0.000 T 0.095 -1.122 0.124 1.25 -0.117 2.270 5.903 -1.12245 NA 1 0.680433 0.852928 NA 0.696 NA 8.2810004 824 1 228464248 228464248 T G exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000359599:exon11:c.T2859G:p.D953E,ENSG00000154358:ENST00000284548:exon22:c.T6318G:p.D2106E,ENSG00000154358:ENST00000422127:exon22:c.T6318G:p.D2106E,ENSG00000154358:ENST00000570156:exon26:c.T7443G:p.D2481E Score=401;Name=lod=57 NA 1q42.13 Score=754;Name=V$HEN1_02 Name=E2F6_(H-50) NA NA rs1188721 0.72 0.72 0.673 0.695487 0.664 0.75 0.7003 0.8495 0.4601 0.66 0.73 0.7 0.82 0.693 0.82 1 T 0.001 B 0.001 B 0.000 N 0.000 P -1.4 N 3.66 T -1.037 T 0.000 T 0.046 1.011 9.131 -0.623 -0.225 -0.293 7.276 1.011395 NA 1 0.696479 0.820785 ID=COSM1339607,COSM1339606,COSM1339608;OCCURENCE=1(large_intestine) 0.696 NA 8.2798544 824 4 79455733 79455733 C T exonic FRAS1 NA synonymous SNV FRAS1:NM_025074:exon71:c.C11056T:p.L3686L exonic ENSG00000138759 NA synonymous SNV ENSG00000138759:ENST00000264895:exon71:c.C11056T:p.L3686L NA NA 4q21.21 NA Name=ERalpha_a NA NA rs4975139 0.52 0.52 0.526 0.514976 0.4632 0.7758 0.4395 0.3086 0.6319 0.47 0.79 0.45 0.35 0.4884 0.79 . . . . . . . . 0.000 P . . . . -1.026 T 0.000 T . 0.186 5.004 2.41 0.174 1.126 6.007 0.186442 NA NA 0.435907 0.337852 NA 0.486 NA 8.2791596 824 15 50226313 50226313 G T exonic ATP8B4 NA nonsynonymous SNV ATP8B4:NM_024837:exon15:c.C1354A:p.H452N exonic ENSG00000104043 NA nonsynonymous SNV ENSG00000104043:ENST00000284509:exon15:c.C1354A:p.H452N,ENSG00000104043:ENST00000557955:exon15:c.C1354A:p.H452N,ENSG00000104043:ENST00000559829:exon15:c.C1354A:p.H452N NA NA 15q21.2 NA NA NA NA rs2452524 0.66 0.66 0.691 0.639776 0.6918 0.4087 0.5951 0.8752 0.5378 0.71 0.41 0.63 0.87 0.6624 0.87 0.36 T 0.0 B 0.0 B 0.949 N 1.000 P -1.195 N 0.03 T -1.000 T 0.000 T 0.039 -0.331 2.43 -2.68 -1.130 1.045 6.673 -0.331053 NA 0.4 0.700233 0.82878 NA 0.739 NA 8.2789004 824 11 56086147 56086147 T G exonic OR8K3 NA nonsynonymous SNV OR8K3:NM_001005202:exon1:c.T365G:p.L122R exonic ENSG00000181689 NA nonsynonymous SNV ENSG00000181689:ENST00000312711:exon1:c.T365G:p.L122R Score=494;Name=lod=136 NA 11q12.1 Score=763;Name=V$PPARA_01 NA NA NA rs960193 0.76 0.76 0.726 0.785543 0.675 0.8651 0.8156 0.7625 0.8272 0.66 0.85 0.82 0.77 0.7218 0.85 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.65 N 3.55 T -1.013 T 0.000 T 0.046 -1.852 0.009 1.65 0.020 4.738 5.75 -1.852062 NA 1 0.657705 0.728305 NA 0.797 NA 8.2788284 824 2 74701836 74701836 G A exonic CCDC142 NA nonsynonymous SNV CCDC142:NM_032779:exon9:c.C2069T:p.P690L exonic ENSG00000135637 NA nonsynonymous SNV ENSG00000135637:ENST00000290418:exon9:c.C2069T:p.P690L,ENSG00000135637:ENST00000393965:exon9:c.C2090T:p.P697L NA NA 2p13.1 Score=733;Name=V$MYOGNF1_01 NA NA NA rs116238920 0.01 0.01 0.011 0.00778754 0.0258 NA 0.0173 NA 0.001 0.02 NA 0.01 NA 0.0126 0.02 0.74 T 0.017 B 0.025 B 0.503 N 1.000 N 1.79 L 0.88 T -1.004 T 0.041 T 0.033 -1.324 0.033 0.923 0.310 0.270 3.873 -1.323679 NA 0.71 0.017093 0.002951 NA NA NA 8.2778404 824 15 79185898 79185898 C A exonic MORF4L1 NA synonymous SNV MORF4L1:NM_001265603:exon7:c.C294A:p.A98A,MORF4L1:NM_001265604:exon9:c.C294A:p.A98A,MORF4L1:NM_001265605:exon9:c.C294A:p.A98A,MORF4L1:NM_006791:exon9:c.C558A:p.A186A,MORF4L1:NM_206839:exon10:c.C675A:p.A225A exonic ENSG00000185787 NA synonymous SNV ENSG00000185787:ENST00000558502:exon7:c.C294A:p.A98A,ENSG00000185787:ENST00000558746:exon8:c.C477A:p.A159A,ENSG00000185787:ENST00000558830:exon8:c.C294A:p.A98A,ENSG00000185787:ENST00000426013:exon9:c.C558A:p.A186A,ENSG00000185787:ENST00000559158:exon9:c.C294A:p.A98A,ENSG00000185787:ENST00000559345:exon9:c.C294A:p.A98A,ENSG00000185787:ENST00000559690:exon9:c.C294A:p.A98A,ENSG00000185787:ENST00000560422:exon9:c.C588A:p.A196A,ENSG00000185787:ENST00000331268:exon10:c.C675A:p.A225A,ENSG00000185787:ENST00000379535:exon10:c.C633A:p.A211A Score=642;Name=lod=540 NA 15q25.1 Score=881;Name=V$NF1_Q6 NA Name=6 NA rs1435163 0.16 0.16 0.138 0.139976 0.1262 0.254 0.1326 0.1127 0.0787 0.13 0.26 0.12 0.11 0.1364 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819425 NA NA 0.12669 0.109112 NA 0.13 NA 8.2773766 824 9 116181419 116181419 A G exonic C9orf43 NA nonsynonymous SNV C9orf43:NM_152786:exon4:c.A319G:p.I107V exonic ENSG00000157653 NA nonsynonymous SNV ENSG00000157653:ENST00000288462:exon4:c.A319G:p.I107V,ENSG00000157653:ENST00000374165:exon4:c.A319G:p.I107V NA NA 9q32 NA NA NA NA rs113088354 0.01 0.01 0.008 0.0113818 0.0169 0.003 0.0187 0.0008 0.0235 0.02 0.0017 0.03 NA 0.0182 0.03 0.99 T 0.11 B 0.028 B 0.071 N 1.000 N 0.345 N 0.86 T -1.029 T 0.026 T 0.021 0.723 7.848 2.84 0.527 0.300 6.613 0.723287 NA 0.7 0.021163 0.004539 NA 0.007 NA 8.2770704 824 6 26027141 26027141 G A UTR3 HIST1H4B NM_003544:c.*28C>T NA NA UTR3 ENSG00000124529 ENST00000377364:c.*28C>T NA NA Score=507;Name=lod=153 NA 6p22.2 NA Name=HEY1,PAX5-N19,PAX5-C20,Pol2,Pol2(phosphoS2),Sin3Ak-20,Pol2-4H8,Pol2(b),ELK4,USF2 Name=14 Score=269;Name=2016917_0_+_269 rs114259939 0.01 0.01 0.007 0.00898562 0.0258 NA 0.0115 0.0008 0.0102 0.03 NA 0.01 NA 0.014 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.045902 2.045902 NA 0.017791 0.003631 NA 0.014 NA 8.2757424 824 8 144942413 144942413 T C exonic EPPK1 NA nonsynonymous SNV EPPK1:NM_031308:exon1:c.A5009G:p.D1670G exonic ENSG00000227184 NA nonsynonymous SNV ENSG00000227184:ENST00000525985:exon2:c.A5009G:p.D1670G Score=509;Name=lod=156 NA 8q24.3 NA NA NA NA rs201641573 NA NA 0.002 0.00638978 0.0219 0.002 0.0086 NA 0.002 NA NA NA NA 0.0163 0.02 1 T 0.0 B 0.0 B . . 0.872 N 0.71 N 0.11 T -1.020 T 0.049 T 0.099 -0.112 3.451 1.27 0.380 0.076 8.920 -0.111943 NA NA 0.019918 0.005018 ID=COSM1330245;OCCURENCE=1(ovary),1(breast) 0.007 NA 8.2752154 825 2 86371883 86371883 T C exonic IMMT NA synonymous SNV IMMT:NM_001100169:exon15:c.A1782G:p.A594A,IMMT:NM_001100170:exon15:c.A1752G:p.A584A,IMMT:NM_006839:exon15:c.A1785G:p.A595A exonic ENSG00000132305 NA synonymous SNV ENSG00000132305:ENST00000409051:exon14:c.A1644G:p.A548A,ENSG00000132305:ENST00000254636:exon15:c.A1488G:p.A496A,ENSG00000132305:ENST00000410111:exon15:c.A1785G:p.A595A,ENSG00000132305:ENST00000442664:exon15:c.A1782G:p.A594A,ENSG00000132305:ENST00000449247:exon15:c.A1752G:p.A584A NA NA 2p11.2 Score=875;Name=V$CHOP_01 NA NA NA rs8244 0.28 0.28 0.246 0.260783 0.4761 0.1488 0.3703 0.0582 0.3507 0.46 0.16 0.4 0.07 0.4162 0.5 . . . . . . . . 0.000 P . . . . -1.035 T 0.000 T . -0.955 0.334 -10.5 -3.336 -5.190 5.262 -0.954617 NA NA 0.503146 0.11261 NA 0.333 NA 8.2712206 825 11 828916 828916 G A exonic EFCAB4A NA nonsynonymous SNV EFCAB4A:NM_173584:exon3:c.G230A:p.R77Q exonic ENSG00000177685 NA nonsynonymous SNV ENSG00000177685:ENST00000525077:exon2:c.G230A:p.R77Q,ENSG00000177685:ENST00000450448:exon3:c.G230A:p.R77Q,ENSG00000177685:ENST00000527089:exon3:c.G230A:p.R77Q,ENSG00000177685:ENST00000528542:exon3:c.G230A:p.R77Q,ENSG00000177685:ENST00000533803:exon3:c.G230A:p.R77Q Score=483;Name=lod=123 NA 11p15.5 NA NA NA NA rs7126805 0.67 0.67 0.627 0.568291 0.6948 0.6647 0.7695 0.4576 0.3456 0.7 0.72 0.76 0.49 0.6597 0.76 0.8 T 0.011 B 0.002 B 0.001 N 0.999 P -1.525 N 0.98 T -0.977 T 0.000 T 0.053 1.446 10.78 2.2 0.597 1.510 7.287 1.446198 1.446198 1 0.708671 0.515988 NA 0.659 NA 8.2701624 825 10 61665886 61665886 C A exonic CCDC6 NA synonymous SNV CCDC6:NM_005436:exon1:c.G297T:p.V99V exonic ENSG00000108091 NA synonymous SNV ENSG00000108091:ENST00000263102:exon1:c.G297T:p.V99V Score=736;Name=lod=1311 NA 10q21.2 Score=820;Name=V$ER_Q6 Name=PAX5-N19 Name=10 NA rs1171830 0.4 0.4 0.327 0.375399 0.4523 0.627 0.4726 0.0393 0.4223 0.46 0.6 0.45 0.04 0.4731 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.557994 1.557994 NA 0.471395 0.113709 NA 0.333 NA 8.2698716 825 10 106039185 106039185 A G exonic GSTO2 NA nonsynonymous SNV GSTO2:NM_001191014:exon3:c.A340G:p.N114D,GSTO2:NM_183239:exon5:c.A424G:p.N142D exonic ENSG00000065621 NA nonsynonymous SNV ENSG00000065621:ENST00000369707:exon3:c.A340G:p.N114D,ENSG00000065621:ENST00000401888:exon4:c.A424G:p.N142D,ENSG00000065621:ENST00000338595:exon5:c.A424G:p.N142D NA NA 10q25.1 Score=820;Name=V$IRF7_01 NA NA NA rs156697 0.43 0.43 0.479 0.440695 0.3668 0.255 0.2752 0.8048 0.3333 0.36 0.27 0.31 0.81 0.3562 0.81 0.63 T 0.0 B 0.001 B 0.004 N 1.000 P -1.04 N 3.17 T -1.040 T 0.000 T 0.044 -0.871 0.5 3.96 0.851 0.748 7.357 -0.871174 NA 0.68 0.340581 0.742851 ID=COSM147038;OCCURENCE=1(stomach) 0.413 NA 8.2697524 825 21 43557698 43557698 A C exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001199527:exon21:c.A4093C:p.N1365H,UMODL1:NM_173568:exon21:c.A4309C:p.N1437H,UMODL1:NM_001004416:exon22:c.A3925C:p.N1309H,UMODL1:NM_001199528:exon22:c.A3709C:p.N1237H exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400427:exon21:c.A4093C:p.N1365H,ENSG00000177398:ENST00000408989:exon21:c.A4309C:p.N1437H,ENSG00000177398:ENST00000400424:exon22:c.A3709C:p.N1237H,ENSG00000177398:ENST00000408910:exon22:c.A3925C:p.N1309H NA NA 21q22.3 NA NA NA NA rs3819142 0.18 0.18 0.156 0.220647 0.1769 0.256 0.245 0.1452 0.3139 0.17 0.23 0.21 0.12 0.2085 0.28 . . 0.802 P 0.126 B 0.253 N 1.000 P 0 N -0.64 T -1.079 T 0.000 T 0.05 1.088 9.441 1.19 0.336 2.218 7.542 1.088116 NA 0.1 0.179833 0.156556 NA 0.203 NA 8.2681004 825 6 116575083 116575083 C A exonic TSPYL4 NA nonsynonymous SNV TSPYL4:NM_021648:exon1:c.G89T:p.R30L exonic ENSG00000187189 NA nonsynonymous SNV ENSG00000187189:ENST00000420283:exon1:c.G89T:p.R30L NA NA 6q22.1 NA Name=Oct-2,ELF1_(SC-631),ZEB1_(SC-25388),Sin3Ak-20,Pol2-4H8,Pol2,Pol2(phosphoS2),POU2F2 NA NA rs2232470 0.84 0.84 0.838 0.883187 0.661 0.998 0.7896 0.9629 0.9519 0.67 1 0.75 0.96 0.7653 1 0.82 T 0.0 B 0.0 B . . 1.000 P -0.41 N 1.81 T -0.961 T 0.005 T 0.018 0.487 6.64 -4.12 -1.168 -0.926 2.291 0.486619 NA 1 0.641453 0.912563 NA 0.768 NA 8.2655804 825 11 58206703 58206703 C T exonic OR5B12 NA nonsynonymous SNV OR5B12:NM_001004733:exon1:c.G922A:p.A308T exonic ENSG00000172362 NA nonsynonymous SNV ENSG00000172362:ENST00000302572:exon1:c.G922A:p.A308T NA NA 11q12.1 NA NA NA NA rs118148210 0.01 0.01 0.007 0.00858626 0.0229 0.001 0.0029 NA 0.0174 0.03 NA NA NA 0.0209 0.03 0.39 T 0.009 B 0.01 B 0.504 N 1.000 N 0 N 7.26 T -1.037 T 0.000 T 0.009 -2 0.007 -1.76 -0.415 -1.090 4.995 -2.000084 NA 0.39 0.024214 0.005679 NA NA NA 8.2653194 825 22 50502544 50502544 G A exonic MLC1 NA synonymous SNV MLC1:NM_015166:exon11:c.C978T:p.C326C,MLC1:NM_139202:exon11:c.C978T:p.C326C exonic ENSG00000100427 NA synonymous SNV ENSG00000100427:ENST00000450140:exon9:c.C822T:p.C274C,ENSG00000100427:ENST00000431262:exon10:c.C888T:p.C296C,ENSG00000100427:ENST00000535444:exon10:c.C741T:p.C247C,ENSG00000100427:ENST00000538737:exon10:c.C876T:p.C292C,ENSG00000100427:ENST00000311597:exon11:c.C978T:p.C326C,ENSG00000100427:ENST00000395876:exon11:c.C978T:p.C326C Score=389;Name=lod=51 NA 22q13.33 Score=849;Name=V$HMX1_01 NA NA NA rs11568186 0.11 0.11 0.087 0.13119 0.1312 0.0923 0.1758 0.059 0.2372 0.12 0.1 0.16 0.08 0.1311 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538103 NA NA 0.139302 0.074444 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117628.2;CLNDSDB=.;CLNDSDBID=. 8.2650646 826 9 94486321 94486321 C T exonic ROR2 NA nonsynonymous SNV ROR2:NM_004560:exon9:c.G2455A:p.V819I exonic ENSG00000169071 NA nonsynonymous SNV ENSG00000169071:ENST00000375708:exon9:c.G2455A:p.V819I Score=429;Name=lod=74 NA 9q22.31 NA NA NA NA rs10761129 0.78 0.78 0.794 0.748003 0.6879 0.9137 0.7723 0.7776 0.5818 0.7 0.93 0.74 0.78 0.7103 0.93 1 T 0.0 B 0.0 B 0.001 N 0.000 P -1.04 N -0.94 T -0.939 T 0.000 T 0.039 -1.385 0.024 3.39 0.273 4.807 8.965 -1.385455 NA 1 0.670195 0.760327 NA 0.746 NA 8.2649384 826 1 38338795 38338795 A G exonic INPP5B NA nonsynonymous SNV INPP5B:NM_005540:exon19:c.T1994C:p.M665T exonic ENSG00000204084 NA nonsynonymous SNV ENSG00000204084:ENST00000373027:exon13:c.T1502C:p.M501T,ENSG00000204084:ENST00000373026:exon18:c.T2234C:p.M745T,ENSG00000204084:ENST00000373023:exon19:c.T2234C:p.M745T,ENSG00000204084:ENST00000373024:exon19:c.T1994C:p.M665T NA NA 1p34.3 NA NA NA NA rs11488569 0.57 0.57 0.532 0.523562 0.7266 0.4752 0.5994 0.298 0.6155 0.74 0.51 0.59 0.34 0.6401 0.74 0.65 T 0.0 B 0.0 B 0.944 N 1.000 P -1.645 N -2.92 D -0.950 T 0.000 T 0.033 -1.564 0.015 2.59 0.026 1.586 5.429 -1.564422 NA 0.29 0.703686 0.378459 NA 0.551 NA 8.2629474 826 18 22775185 22775185 C T exonic ZNF521 NA synonymous SNV ZNF521:NM_015461:exon5:c.G3597A:p.K1199K exonic ENSG00000198795 NA nonsynonymous SNV ENSG00000198795:ENST00000399425:exon6:c.G3677A:p.S1226N Score=683;Name=lod=792 NA 18q11.2 Score=1000;Name=V$NKX25_01 NA NA Score=105;Name=1065488_0_-_105 rs1140026 0.21 0.21 0.185 0.226637 0.2535 0.2768 0.2089 0.1316 0.2883 0.25 0.23 0.2 0.15 0.2427 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.196755 NA NA 0.242326 0.143279 NA 0.217 NA 8.261474 826 3 42787469 42787469 A G exonic CCDC13 NA synonymous SNV CCDC13:NM_144719:exon7:c.T771C:p.S257S exonic ENSG00000244607 NA synonymous SNV ENSG00000244607:ENST00000310232:exon7:c.T771C:p.S257S Score=369;Name=lod=42 NA 3p22.1 Score=797;Name=V$OLF1_01 Name=JunD,FOSL2 Name=4 NA rs2240859 0.48 0.48 0.474 0.501398 0.4592 0.4534 0.402 0.5439 0.6074 0.46 0.47 0.46 0.54 0.4876 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042159 NA NA 0.458488 0.544031 NA 0.493 NA 8.2613786 826 19 48537585 48537585 A G exonic CABP5 NA nonsynonymous SNV CABP5:NM_019855:exon5:c.T383C:p.V128A exonic ENSG00000105507 NA nonsynonymous SNV ENSG00000105507:ENST00000293255:exon5:c.T383C:p.V128A NA NA 19q13.33 NA NA NA NA rs3745746 0.23 0.23 0.234 0.222244 0.3569 0.0645 0.281 0.1399 0.316 0.35 0.09 0.33 0.14 0.3284 0.39 1 T 0.0 B 0.001 B 0.045 N 1.000 P -1.685 N -0.35 T -1.038 T 0.000 T 0.061 -1.403 0.023 -5.16 -0.593 -2.822 8.839 -1.402989 NA 1 0.387558 0.171584 NA 0.268 NA 8.2604754 826 14 23899027 23899027 C T exonic MYH7 NA synonymous SNV MYH7:NM_000257:exon12:c.G1095A:p.K365K exonic ENSG00000092054 NA synonymous SNV ENSG00000092054:ENST00000355349:exon12:c.G1095A:p.K365K Score=592;Name=lod=340 NA 14q11.2 NA NA NA Score=121;Name=686577_0_+_121 rs735711 0.09 0.09 0.089 0.0796725 0.1402 0.001 0.0706 0.1362 0.0286 0.13 0.0017 0.09 0.14 0.1159 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.385462 1.385462 NA 0.151279 0.144122 NA 0.203 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000035697.2|RCV000127021.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.2592876 826 10 124742895 124742895 G C exonic PSTK NA nonsynonymous SNV PSTK:NM_153336:exon3:c.G616C:p.G206R exonic ENSG00000179988 NA nonsynonymous SNV ENSG00000179988:ENST00000368887:exon3:c.G616C:p.G206R,ENSG00000179988:ENST00000405485:exon3:c.G616C:p.G206R Score=309;Name=lod=24 NA 10q26.13 NA NA NA NA rs3736582 0.59 0.59 0.602 0.581669 0.7296 0.3919 0.5576 0.6589 0.5378 0.73 0.38 0.59 0.63 0.6339 0.73 0.47 T 0.003 B 0.009 B 0.175 N 0.486 P 1.935 M 1.59 T -0.991 T 0.000 T 0.682 1.164 9.739 1.81 0.339 1.664 4.515 1.164358 NA 0.12 0.710698 0.64503 ID=COSM147077;OCCURENCE=1(stomach) 0.601 NA 8.2591354 826 8 87076520 87076520 C A exonic PSKH2 NA nonsynonymous SNV PSKH2:NM_033126:exon2:c.G526T:p.A176S exonic ENSG00000147613 NA nonsynonymous SNV ENSG00000147613:ENST00000276616:exon2:c.G526T:p.A176S NA NA 8q21.3 NA NA Name=4 NA rs6998760 0.33 0.33 0.302 0.295727 0.3698 0.4415 0.2911 0.0885 0.3528 0.37 0.47 0.31 0.1 0.3447 0.47 1 T 0.0 B 0.002 B . . 1.000 P -0.725 N 1.31 T -0.934 T 0.000 T 0.032 -2.272 0.004 -3.35 -0.517 0.430 12.419 -2.272117 NA 0.78 0.360581 0.118248 ID=COSM150503;OCCURENCE=1(stomach) 0.312 NA 8.2582524 826 2 185801103 185801103 A C exonic ZNF804A NA nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A980C:p.N327T exonic ENSG00000170396 NA nonsynonymous SNV ENSG00000170396:ENST00000302277:exon4:c.A980C:p.N327T NA NA 2q32.1 NA NA NA NA rs61739291 0.01 0.01 0.005 0.00938498 0.0288 NA 0.0058 NA 0.0143 0.03 NA 0.01 NA 0.0196 0.03 0.37 T 0.144 B 0.022 B 0.017 N 1.000 N 1.5 L 0.84 T -1.061 T 0.031 T 0.016 0.764 8.043 3.09 0.356 0.214 3.017 0.764214 NA 0.36 0.027112 0.006809 NA NA NA 8.2578214 826 19 10404519 10404519 G A exonic ICAM5 NA synonymous SNV ICAM5:NM_003259:exon7:c.G1611A:p.E537E exonic ENSG00000105376 NA synonymous SNV ENSG00000105376:ENST00000221980:exon7:c.G1611A:p.E537E Score=243;Name=lod=13 NA 19p13.2 Score=938;Name=V$TCF11_01 Name=CCNT2 NA NA rs17852402 0.09 0.09 0.074 0.0948482 0.1292 0.0476 0.1398 0.0227 0.1738 0.13 0.06 0.17 0.01 0.1338 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388901 NA NA 0.146744 0.040626 NA 0.109 NA 8.2569226 826 11 1155156 1155156 G A intergenic MUC2,MUC5B dist=50739;dist=89139 NA NA exonic ENSG00000215182 NA nonsynonymous SNV ENSG00000215182:ENST00000356191:exon3:c.G164A:p.R55H,ENSG00000215182:ENST00000534821:exon3:c.G164A:p.R55H NA NA 11p15.5 NA NA NA NA rs76577728 0.01 0.01 0.006 0.00758786 0.0268 NA 0.0115 0.0015 0.001 0.03 NA 0.01 0.01 0.0172 0.033 0.12 T 0.487 P 0.054 B . . . . 1.545 L 2.14 T -1.078 T 0.011 T 0.238 1.54 11.1 -4.75 -1.161 -0.816 3.588 1.54046 1.54046 0.08 0.033417 0.006286 NA 0.007 NA 8.2559164 826 21 37442632 37442632 G C exonic CBR1 NA synonymous SNV CBR1:NM_001757:exon1:c.G219C:p.L73L exonic ENSG00000159228 NA synonymous SNV ENSG00000159228:ENST00000290349:exon1:c.G219C:p.L73L,ENSG00000159228:ENST00000399191:exon1:c.G219C:p.L73L,ENSG00000159228:ENST00000439427:exon1:c.G219C:p.L73L,ENSG00000159228:ENST00000530908:exon1:c.G219C:p.L73L Score=496;Name=lod=138 NA 21q22.12 NA Name=E2F6,E2F6_(H-50),HA-E2F1 Name=19 NA rs25678 0.15 0.15 0.136 0.160543 0.1113 0.2093 0.2046 0.0703 0.2515 0.12 0.25 0.19 0.06 0.1616 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.51926 3.51926 NA 0.138221 0.087284 NA 0.101 NA 8.2555456 826 19 9059181 9059181 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C28265T:p.P9422L exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C28265T:p.P9422L NA NA 19p13.2 NA NA NA NA rs12459532 0.02 0.02 0.013 0.0363419 0.0189 0.0099 0.1153 0.0008 0.0736 0.02 0.01 0.1 NA 0.0382 0.1 0 D 0.183 B 0.122 B . . . . 0.55 N 2.03 T -1.023 T 0.001 T 0.057 0.057 4.312 0.802 0.328 -0.068 5.188 0.057126 NA 0 0.021157 0.005685 NA 0.022 NA 8.2550764 827 4 83765605 83765605 C A exonic SEC31A NA nonsynonymous SNV SEC31A:NM_016211:exon19:c.G2443T:p.A815S,SEC31A:NM_001191049:exon20:c.G2545T:p.A849S,SEC31A:NM_001077206:exon21:c.G2560T:p.A854S,SEC31A:NM_001077207:exon21:c.G2560T:p.A854S,SEC31A:NM_001077208:exon21:c.G2560T:p.A854S,SEC31A:NM_014933:exon21:c.G2560T:p.A854S exonic ENSG00000138674 NA nonsynonymous SNV ENSG00000138674:ENST00000264405:exon14:c.G1852T:p.A618S,ENSG00000138674:ENST00000500777:exon18:c.G2443T:p.A815S,ENSG00000138674:ENST00000326950:exon19:c.G2443T:p.A815S,ENSG00000138674:ENST00000348405:exon19:c.G2443T:p.A815S,ENSG00000138674:ENST00000505984:exon19:c.G2443T:p.A815S,ENSG00000138674:ENST00000513858:exon19:c.G2443T:p.A815S,ENSG00000138674:ENST00000443462:exon20:c.G2545T:p.A849S,ENSG00000138674:ENST00000311785:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000395310:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000432794:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000448323:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000505472:exon21:c.G2653T:p.A885S,ENSG00000138674:ENST00000508479:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000508502:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000509142:exon21:c.G2560T:p.A854S,ENSG00000138674:ENST00000355196:exon23:c.G2560T:p.A854S NA NA 4q21.22 NA NA NA NA rs11541628 0.01 0.01 0.019 0.00998403 0.0338 NA 0.0187 NA 0.0031 0.03 NA 0.02 NA 0.0198 0.03 0.49 T 0.386 B 0.157 B 0.342 N 1.000 N 0.695 N 3.14 T -1.063 T 0.029 T 0.194 0.528 6.862 3.78 0.682 0.912 8.939 0.528466 NA 0.35 0.026512 0.004766 NA NA NA 8.2532214 827 4 57221348 57221348 T C exonic AASDH NA nonsynonymous SNV AASDH:NM_181806:exon6:c.A1103G:p.K368R exonic ENSG00000157426 NA nonsynonymous SNV ENSG00000157426:ENST00000513376:exon5:c.A803G:p.K268R,ENSG00000157426:ENST00000602986:exon5:c.A644G:p.K215R,ENSG00000157426:ENST00000205214:exon6:c.A1103G:p.K368R,ENSG00000157426:ENST00000451613:exon6:c.A1103G:p.K368R,ENSG00000157426:ENST00000502617:exon6:c.A1103G:p.K368R NA NA 4q12 NA NA NA NA rs3796543 0.07 0.07 0.068 0.0646965 0.0179 0.1915 0.0216 0.0129 0.0828 0.02 0.21 0.04 0.02 0.0424 0.21 . . 0.004 B 0.006 B 0.261 N 0.000 P -0.745 N 0.97 T -0.986 T 0.000 T 0.051 -0.312 2.516 1.78 0.378 1.158 7.146 -0.311933 NA 0.62 0.020698 0.013164 NA 0.058 NA 8.2523354 827 16 88779739 88779739 A G exonic CTU2 NA nonsynonymous SNV CTU2:NM_001012759:exon8:c.A757G:p.M253V,CTU2:NM_001012762:exon8:c.A757G:p.M253V exonic ENSG00000174177 NA nonsynonymous SNV ENSG00000174177:ENST00000378384:exon7:c.A496G:p.M166V,ENSG00000174177:ENST00000312060:exon8:c.A757G:p.M253V,ENSG00000174177:ENST00000453996:exon8:c.A757G:p.M253V,ENSG00000174177:ENST00000567949:exon8:c.A970G:p.M324V Score=462;Name=lod=101 NA 16q24.3 NA Name=ZBTB7A_(SC-34508) NA NA rs11549837 0.45 0.45 0.422 0.452676 0.3439 0.6637 0.4308 0.4372 0.3834 0.37 0.66 0.4 0.38 0.3996 0.66 0.71 T 0.0 B 0.0 B 0.119 N 0.999 P -2.135 N 2.48 T -1.008 T 0.000 T 0.032 -1.128 0.119 1.54 0.492 0.845 4.674 -1.128461 NA 1 0.340475 0.416781 NA 0.341 NA 8.2493584 827 5 7897283 7897283 G A exonic MTRR NA synonymous SNV MTRR:NM_002454:exon14:c.G1875A:p.V625V,MTRR:NM_024010:exon14:c.G1956A:p.V652V exonic ENSG00000124275 NA synonymous SNV ENSG00000124275:ENST00000264668:exon14:c.G1956A:p.V652V,ENSG00000124275:ENST00000440940:exon14:c.G1875A:p.V625V Score=429;Name=lod=74 NA 5p15.31 NA Name=CTCF,CTCF_(C-20),Rad21,FOSL1_(SC-183),eGFP-JunD,c-Fos,YY1_(C-20),YY1,SMC3_(ab9263),Egr-1,CTCF_(SC-5916),CTCFL_(SC-98982),eGFP-JunB Name=96 NA rs12347 0.22 0.22 0.194 0.24381 0.1322 0.1399 0.3415 0.4312 0.1431 0.12 0.15 0.29 0.38 0.1678 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936013 NA NA 0.117326 0.370404 NA 0.326 NA 8.2493406 827 19 22375868 22375868 C T exonic ZNF676 NA nonsynonymous SNV ZNF676:NM_001001411:exon2:c.G80A:p.G27E exonic ENSG00000196109 NA nonsynonymous SNV ENSG00000196109:ENST00000397121:exon2:c.G80A:p.G27E NA NA 19p12 NA NA NA NA rs8104929 0.4 0.4 0.381 0.441294 0.3459 0.3393 0.3689 0.6331 0.4366 0.34 0.32 0.35 0.63 0.3871 0.63 0.35 T 0.999 D 0.972 D . . 0.998 P 1.405 L 5.57 T -1.062 T 0.000 T 0.11 0.538 6.915 0.784 0.181 0.737 4.744 0.538495 NA 0.34 0.351052 0.567505 NA 0.399 NA 8.2492814 827 10 124329710 124329710 C A exonic DMBT1 NA nonsynonymous SNV DMBT1:NM_004406:exon3:c.C124A:p.P42T,DMBT1:NM_007329:exon3:c.C124A:p.P42T,DMBT1:NM_017579:exon3:c.C124A:p.P42T exonic ENSG00000187908 NA nonsynonymous SNV ENSG00000187908:ENST00000330163:exon3:c.C124A:p.P42T,ENSG00000187908:ENST00000338354:exon3:c.C124A:p.P42T,ENSG00000187908:ENST00000344338:exon3:c.C124A:p.P42T,ENSG00000187908:ENST00000359586:exon3:c.C124A:p.P42T,ENSG00000187908:ENST00000368909:exon3:c.C124A:p.P42T,ENSG00000187908:ENST00000368955:exon3:c.C124A:p.P42T,ENSG00000187908:ENST00000368956:exon3:c.C124A:p.P42T NA NA 10q26.13 NA NA NA NA rs11523871 0.7 0.7 0.687 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 0.7161 0.78 0.61 T 0.025 B 0.025 B . . 1.000 P -0.345 N 1.97 T -0.973 T 0.000 T 0.028 -1.601 0.014 -3.03 -5.226 -2.429 1.383 -1.600744 NA 0.63 0.689294 0.641525 NA 0.732 NA 8.2490394 827 10 124330427 124330427 C T exonic DMBT1 NA nonsynonymous SNV DMBT1:NM_004406:exon4:c.C161T:p.S54L,DMBT1:NM_007329:exon4:c.C161T:p.S54L,DMBT1:NM_017579:exon4:c.C161T:p.S54L exonic ENSG00000187908 NA nonsynonymous SNV ENSG00000187908:ENST00000330163:exon4:c.C161T:p.S54L,ENSG00000187908:ENST00000338354:exon4:c.C161T:p.S54L,ENSG00000187908:ENST00000344338:exon4:c.C161T:p.S54L,ENSG00000187908:ENST00000359586:exon4:c.C161T:p.S54L,ENSG00000187908:ENST00000368909:exon4:c.C161T:p.S54L,ENSG00000187908:ENST00000368955:exon4:c.C161T:p.S54L,ENSG00000187908:ENST00000368956:exon4:c.C161T:p.S54L NA NA 10q26.13 NA NA NA NA rs3013236 0.7 0.7 0.689 0.705272 0.6789 0.7738 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 0.716 0.78 0.66 T 0.148 B 0.032 B . . 1.000 P 0.55 N 1.96 T -0.983 T 0.000 T 0.046 1.079 9.406 -3.13 -3.087 -2.160 3.228 1.079226 NA 0.16 0.689626 0.642216 NA 0.732 NA 8.2488074 827 11 7324584 7324584 G A exonic SYT9 NA nonsynonymous SNV SYT9:NM_175733:exon2:c.G460A:p.V154M exonic ENSG00000170743 NA nonsynonymous SNV ENSG00000170743:ENST00000318881:exon2:c.G460A:p.V154M,ENSG00000170743:ENST00000396716:exon2:c.G364A:p.V122M,ENSG00000170743:ENST00000524820:exon2:c.G364A:p.V122M,ENSG00000170743:ENST00000532592:exon2:c.G460A:p.V154M NA NA 11p15.4 NA NA NA NA rs78477754 0.02 0.02 0.014 0.0139776 0.0288 NA 0.0288 0.0151 0.001 0.03 NA 0.04 0.01 0.0237 0.04 0.23 T 0.006 B 0.007 B 0.006 N 1.000 N -0.405 N 0.53 T -1.066 T 0.016 T 0.222 0.049 4.269 1.29 0.368 2.068 8.314 0.049097 NA 0.28 0.032123 0.017038 NA 0.014 NA 8.2487104 827 11 69462910 69462910 G A exonic CCND1 NA synonymous SNV CCND1:NM_053056:exon4:c.G723A:p.P241P exonic ENSG00000110092 NA synonymous SNV ENSG00000110092:ENST00000227507:exon4:c.G723A:p.P241P Score=535;Name=lod=199 NA 11q13.3 Score=816;Name=V$PAX2_01 Name=PAX5-C20,Pol2 NA NA rs9344 0.42 0.42 0.413 0.413538 0.497 0.5714 0.3487 0.1876 0.5164 0.49 0.56 0.38 0.19 0.4551 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.055813 2.055813 NA 0.465999 0.232045 ID=COSM1179751;OCCURENCE=1(prostate) 0.312 CLINSIG=other|other|other;CLNDBN=Colorectal_cancer\x2c_susceptibility_to|Multiple_myeloma\x2c_translocation_11\x2c14_type|VON_HIPPEL-LINDAU_SYNDROME\x2c_MODIFIER_OF;CLNREVSTAT=single|single|single;CLNACC=RCV000014762.3|RCV000083293.3|RCV000087019.3;CLNDSDB=.|MedGen|.;CLNDSDBID=.|CN186214|. 8.2485676 827 17 79478019 79478019 G A exonic ACTG1 NA synonymous SNV ACTG1:NM_001199954:exon5:c.C918T:p.Y306Y,ACTG1:NM_001614:exon5:c.C918T:p.Y306Y exonic ENSG00000184009 NA synonymous SNV ENSG00000184009:ENST00000575842:exon4:c.C918T:p.Y306Y,ENSG00000184009:ENST00000331925:exon5:c.C918T:p.Y306Y,ENSG00000184009:ENST00000573283:exon5:c.C918T:p.Y306Y,ENSG00000184009:ENST00000575087:exon5:c.C918T:p.Y306Y,ENSG00000184009:ENST00000576544:exon5:c.C918T:p.Y306Y Score=518;Name=lod=170 NA 17q25.3 Score=883;Name=V$YY1_01 Name=HEY1,Pol2(b),Pol2-4H8,CTCF_(SC-5916),Pol2,NRSF Name=121 NA rs1139405 0.77 0.77 0.761 0.75619 0.8151 0.8433 0.7666 0.6097 0.7965 0.82 0.85 0.79 0.61 0.7902 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623131 NA NA 0.816163 0.634362 ID=COSM1387303;OCCURENCE=1(large_intestine) 0.754 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037126.3;CLNDSDB=.;CLNDSDBID=. 8.2452036 828 6 143382110 143382110 T C exonic AIG1 NA synonymous SNV AIG1:NM_016108:exon1:c.T48C:p.S16S exonic ENSG00000146416 NA synonymous SNV ENSG00000146416:ENST00000275235:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000344492:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000357847:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000367596:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000367598:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000447498:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000494282:exon1:c.T48C:p.S16S,ENSG00000146416:ENST00000367601:exon2:c.T36C:p.S12S Score=664;Name=lod=667 NA 6q24.2 NA Name=TAF1,E2F6_(H-50),YY1,Pol2,Pol2-4H8,E2F1,YY1_(C-20),HA-E2F1,HEY1,USF-1,TBP Name=94 NA rs7774011 0.27 0.27 0.228 0.308307 0.1113 0.499 0.255 0.2965 0.3681 0.12 0.44 0.27 0.3 0.1987 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.736109 1.736109 NA 0.11186 0.255561 NA 0.167 NA 8.2448066 828 16 3273905 3273905 C T exonic ZNF200 NA nonsynonymous SNV ZNF200:NM_001145446:exon5:c.G1172A:p.R391Q,ZNF200:NM_001145447:exon5:c.G1172A:p.R391Q,ZNF200:NM_001145448:exon5:c.G1172A:p.R391Q,ZNF200:NM_003454:exon5:c.G1175A:p.R392Q,ZNF200:NM_198087:exon5:c.G1172A:p.R391Q,ZNF200:NM_198088:exon5:c.G1175A:p.R392Q exonic ENSG00000010539 NA nonsynonymous SNV ENSG00000010539:ENST00000396868:exon5:c.G1172A:p.R391Q,ENSG00000010539:ENST00000396870:exon5:c.G1172A:p.R391Q,ENSG00000010539:ENST00000396871:exon5:c.G1172A:p.R391Q,ENSG00000010539:ENST00000414144:exon5:c.G1175A:p.R392Q,ENSG00000010539:ENST00000431561:exon5:c.G1175A:p.R392Q,ENSG00000010539:ENST00000575948:exon5:c.G1172A:p.R391Q NA NA 16p13.3 NA Name=E2F6_(H-50),KAP1,SETDB1 NA NA rs61731422 0.01 0.01 0.014 0.0109824 0.0298 0.001 0.0187 NA 0.0112 0.03 NA 0.02 NA 0.0235 0.037 0.19 T 0.005 B 0.002 B 0.313 N 1.000 N 0.55 N 3.43 T -0.950 T 0.003 T 0.11 -0.282 2.65 -0.273 0.105 0.022 6.988 -0.282147 NA 0.04 0.036628 0.009786 NA 0.007 NA 8.2434054 828 18 71959075 71959075 G A exonic CYB5A NA synonymous SNV CYB5A:NM_001190807:exon1:c.C36T:p.Y12Y,CYB5A:NM_001914:exon1:c.C36T:p.Y12Y,CYB5A:NM_148923:exon1:c.C36T:p.Y12Y exonic ENSG00000166347 NA synonymous SNV ENSG00000166347:ENST00000340533:exon1:c.C36T:p.Y12Y,ENSG00000166347:ENST00000397914:exon1:c.C36T:p.Y12Y,ENSG00000166347:ENST00000494131:exon1:c.C36T:p.Y12Y Score=391;Name=lod=52 NA 18q22.3 NA Name=CTCF,Pol2,YY1_(C-20),NFKB,HEY1,Pol2-4H8 Name=2 NA rs1051236 0.1 0.1 0.067 0.0952476 0.1322 0.0704 0.2046 0.0068 0.1247 0.14 0.09 0.15 0.02 0.1417 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.556736 1.556736 NA 0.150465 0.033818 NA 0.196 NA 8.2423016 828 5 167850748 167850748 A G exonic WWC1 NA synonymous SNV WWC1:NM_001161661:exon11:c.A1485G:p.S495S,WWC1:NM_001161662:exon11:c.A1485G:p.S495S,WWC1:NM_015238:exon11:c.A1485G:p.S495S exonic ENSG00000113645 NA synonymous SNV ENSG00000113645:ENST00000265293:exon11:c.A1485G:p.S495S,ENSG00000113645:ENST00000521089:exon11:c.A1485G:p.S495S NA NA 5q34 Score=868;Name=V$ZID_01 NA NA NA rs12054944 0.66 0.66 0.613 0.666733 0.4473 0.9921 0.6383 0.6657 0.5787 0.43 1 0.59 0.67 0.5444 1 . . . . . . . . 0.000 P . . . . -1.039 T 0.000 T . 0.687 7.67 -10.4 -2.954 -4.861 2.127 0.686728 NA NA 0.433372 0.629596 ID=COSM449290;OCCURENCE=1(breast) 0.493 NA 8.2415946 828 11 62519565 62519565 G C exonic ZBTB3 NA nonsynonymous SNV ZBTB3:NM_024784:exon2:c.C1722G:p.I574M exonic ENSG00000185670 NA nonsynonymous SNV ENSG00000185670:ENST00000394807:exon2:c.C1722G:p.I574M NA NA 11q12.3 NA NA NA NA rs544641 0.1 0.1 0.121 0.112819 0.0189 0.1518 0.0303 0.2504 0.0419 0.02 0.14 0.03 0.24 0.0505 0.24 0.08 T 0.119 B 0.037 B . . 1.000 P 0 N 2.52 T -0.985 T 0.000 T 0.228 1.505 10.98 3.24 0.874 0.116 7.967 1.505033 1.505033 0 0.02268 0.206403 NA 0.101 NA 8.2412534 828 20 48524827 48524827 A G exonic SPATA2 NA synonymous SNV SPATA2:NM_001135773:exon2:c.T201C:p.Y67Y,SPATA2:NM_006038:exon2:c.T201C:p.Y67Y exonic ENSG00000158480 NA synonymous SNV ENSG00000158480:ENST00000289431:exon2:c.T201C:p.Y67Y,ENSG00000158480:ENST00000422556:exon2:c.T201C:p.Y67Y Score=599;Name=lod=362 NA 20q13.13 Score=882;Name=V$ATF6_01 Name=CTCF Name=5 NA rs2769982 0.49 0.49 0.436 0.490815 0.4503 0.7738 0.585 0.1316 0.6595 0.46 0.79 0.53 0.15 0.5141 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697739 NA NA 0.461395 0.191557 NA 0.362 NA 8.2408716 828 8 123964819 123964819 G A exonic ZHX2 NA nonsynonymous SNV ZHX2:NM_014943:exon3:c.G1069A:p.V357M exonic ENSG00000178764 NA nonsynonymous SNV ENSG00000178764:ENST00000314393:exon3:c.G1069A:p.V357M NA NA 8q24.13 NA NA NA NA rs9649951 0.01 0.01 0.015 0.00998403 0.0258 0.001 0.0144 0.0015 0.0112 0.02 0.0017 0.03 0.002 0.0251 0.043 0.16 T 0.0 B 0.001 B 0.082 N 1.000 N 0.69 N 2.28 T -1.016 T 0.007 T 0.021 0.49 6.657 1.42 0.008 1.466 8.569 0.489767 NA 0.1 0.043372 0.009305 NA 0.022 NA 8.2390614 828 9 2718534 2718534 C G exonic KCNV2 NA synonymous SNV KCNV2:NM_133497:exon1:c.C795G:p.A265A exonic ENSG00000168263 NA synonymous SNV ENSG00000168263:ENST00000382082:exon1:c.C795G:p.A265A Score=581;Name=lod=306 NA 9p24.2 Score=957;Name=V$ZIC1_01 NA Name=5 NA rs12237048 0.51 0.51 0.485 0.480032 0.4742 0.7173 0.549 0.3502 0.3681 0.48 0.73 0.51 0.31 0.4896 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856401 NA NA 0.464152 0.379744 ID=COSM455793;OCCURENCE=2(breast) 0.413 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082511.1;CLNDSDB=.;CLNDSDBID=. 8.2387146 828 1 152285099 152285099 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G2263A:p.E755K exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G2263A:p.E755K NA NA 1q21.3 NA NA NA NA rs74129461 0.28 0.28 0.242 0.327676 0.171 0.6062 0.415 0.0681 0.4908 0.17 0.58 0.33 0.08 0.2559 0.58 0.15 T 0.808 P 0.224 B . . 1.000 P 2.44 M 5.83 T -0.909 T 0.001 T 0.056 1.214 9.927 1.02 0.439 -0.308 3.539 1.213701 NA 0.05 0.167791 0.083522 NA 0.138 NA 8.2386424 828 4 2181080 2181080 T C exonic POLN NA synonymous SNV POLN:NM_181808:exon6:c.A1134G:p.T378T exonic ENSG00000130997 NA synonymous SNV ENSG00000130997:ENST00000382865:exon6:c.A1134G:p.T378T,ENSG00000130997:ENST00000511885:exon8:c.A1134G:p.T378T NA NA 4p16.3 NA NA NA NA rs6830513 0.31 0.31 0.314 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 0.1896 0.57 . . . . . . . . 1.000 P . . . . -0.931 T 0.000 T . -0.08 3.609 -7.45 -1.657 -0.832 1.677 -0.079915 NA NA 0.115465 0.503858 NA 0.384 NA 8.2373016 829 2 121747406 121747406 G A exonic GLI2 NA nonsynonymous SNV GLI2:NM_005270:exon13:c.G3916A:p.D1306N exonic ENSG00000074047 NA nonsynonymous SNV ENSG00000074047:ENST00000361492:exon13:c.G3916A:p.D1306N,ENSG00000074047:ENST00000452319:exon14:c.G3916A:p.D1306N NA NA 2q14.2 NA NA NA NA rs12711538 0.59 0.59 0.619 0.567093 0.7247 0.4712 0.5951 0.5681 0.4826 0.71 0.49 0.6 0.52 0.6464 0.73 . . 0.0 B 0.0 B 0.454 N 1.000 P -1.935 N 2.6 T -1.028 T 0.000 T 0.003 -1.502 0.017 2.13 -0.006 2.156 9.052 -1.50203 NA 1 0.728309 0.576364 NA 0.406 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081285.1;CLNDSDB=.;CLNDSDBID=. 8.2339244 829 4 15640168 15640168 C T exonic FBXL5 NA synonymous SNV FBXL5:NM_001193534:exon4:c.G546A:p.K182K,FBXL5:NM_001193535:exon4:c.G495A:p.K165K,FBXL5:NM_012161:exon4:c.G546A:p.K182K exonic ENSG00000118564 NA synonymous SNV ENSG00000118564:ENST00000512066:exon3:c.G432A:p.K144K,ENSG00000118564:ENST00000341285:exon4:c.G546A:p.K182K,ENSG00000118564:ENST00000412094:exon4:c.G495A:p.K165K,ENSG00000118564:ENST00000503196:exon4:c.G381A:p.K127K,ENSG00000118564:ENST00000382358:exon5:c.G168A:p.K56K Score=625;Name=lod=464 NA 4p15.32 NA Name=CEBPB NA NA rs3182730 0.1 0.1 0.076 0.0960463 0.1581 0.0337 0.0807 0.0696 0.1431 0.14 0.03 0.1 0.1 0.1292 0.15 . . . . . . . . 0.000 P . . . . -1.067 T 0.001 T . 0.751 7.981 1.79 0.080 0.528 10.394 0.751222 NA NA 0.145465 0.073797 NA 0.043 NA 8.2339016 829 19 17660300 17660300 G A exonic FAM129C NA nonsynonymous SNV FAM129C:NM_001098524:exon15:c.G1807A:p.G603S,FAM129C:NM_173544:exon15:c.G1807A:p.G603S exonic ENSG00000167483 NA nonsynonymous SNV ENSG00000167483:ENST00000449408:exon13:c.G985A:p.G329S,ENSG00000167483:ENST00000599124:exon13:c.G1606A:p.G536S,ENSG00000167483:ENST00000352727:exon14:c.G1699A:p.G567S,ENSG00000167483:ENST00000599164:exon14:c.G1714A:p.G572S,ENSG00000167483:ENST00000601861:exon14:c.G1714A:p.G572S,ENSG00000167483:ENST00000332386:exon15:c.G1807A:p.G603S,ENSG00000167483:ENST00000335393:exon15:c.G1807A:p.G603S,ENSG00000167483:ENST00000595684:exon15:c.G1807A:p.G603S NA NA 19p13.11 NA Name=SETDB1 NA NA rs11666267 0.41 0.41 0.409 0.402955 0.5537 0.3651 0.3818 0.3427 0.3834 0.54 0.31 0.41 0.34 0.4849 0.56 0.89 T 0.708 P 0.138 B 0.486 N 1.000 P 1.5 L 2.3 T -0.954 T 0.000 T 0.072 0.627 7.374 1.68 0.729 1.228 5.607 0.627412 NA 0.17 0.561977 0.376532 ID=COSM148530;OCCURENCE=1(stomach) 0.478 NA 8.2327564 829 19 37488299 37488299 A G exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204839:exon9:c.A1514G:p.E505G,ZNF568:NM_001204838:exon10:c.A1706G:p.E569G exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000455427:exon9:c.A1514G:p.E505G,ENSG00000198453:ENST00000444991:exon10:c.A1706G:p.E569G NA NA 19q13.12 Score=805;Name=V$CEBP_C Name=ZNF274 NA NA rs1363752 0.47 0.47 0.44 0.496406 0.5109 0.25 0.5346 0.6006 0.5675 0.52 0.26 0.52 0.61 0.5898 0.61 1 T 0.0 B 0.0 B . . 0.293 P -1.145 N 3.17 T -0.964 T 0.000 T 0.111 -1.131 0.116 -0.878 -0.432 -0.155 8.648 -1.131469 NA 1 NA NA NA 0.493 NA 8.2326334 829 5 149212800 149212800 G A exonic PPARGC1B NA synonymous SNV PPARGC1B:NM_001172698:exon4:c.G1047A:p.P349P,PPARGC1B:NM_001172699:exon4:c.G972A:p.P324P,PPARGC1B:NM_133263:exon5:c.G1164A:p.P388P exonic ENSG00000155846 NA synonymous SNV ENSG00000155846:ENST00000360453:exon4:c.G1047A:p.P349P,ENSG00000155846:ENST00000403750:exon4:c.G972A:p.P324P,ENSG00000155846:ENST00000309241:exon5:c.G1164A:p.P388P,ENSG00000155846:ENST00000394320:exon5:c.G1164A:p.P388P NA NA 5q32 NA NA NA NA rs32577 0.11 0.11 0.119 0.139377 0.1412 0.0139 0.072 0.211 0.2178 0.14 0.02 0.07 0.23 0.1537 0.23 . . . . . . . . 1.000 P . . . . -1.108 T 0.000 T . -1.447 0.02 -10.7 -4.177 -3.145 4.990 -1.446936 NA NA 0.139651 0.226282 NA 0.123 NA 8.2321156 829 19 33882222 33882222 G A exonic PEPD NA synonymous SNV PEPD:NM_001166056:exon11:c.C1008T:p.H336H,PEPD:NM_001166057:exon11:c.C939T:p.H313H,PEPD:NM_000285:exon13:c.C1131T:p.H377H exonic ENSG00000124299 NA synonymous SNV ENSG00000124299:ENST00000397032:exon11:c.C1008T:p.H336H,ENSG00000124299:ENST00000436370:exon11:c.C939T:p.H313H,ENSG00000124299:ENST00000244137:exon13:c.C1131T:p.H377H Score=493;Name=lod=135 NA 19q13.11 Score=887;Name=V$ATF6_01 Name=Pol2 NA NA rs17569 0.13 0.13 0.135 0.0984425 0.1392 0.2192 0.0562 0.0068 0.0859 0.15 0.25 0.07 0.01 0.1484 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371724 1.371724 NA 0.147087 0.022781 NA 0.058 NA 8.2319796 829 11 64109118 64109118 T G exonic CCDC88B NA nonsynonymous SNV CCDC88B:NM_032251:exon7:c.T579G:p.D193E exonic ENSG00000168071 NA nonsynonymous SNV ENSG00000168071:ENST00000356786:exon7:c.T579G:p.D193E Score=395;Name=lod=54 NA 11q13.1 NA NA NA NA rs647152 0.35 0.35 0.344 0.353035 0.3708 0.2401 0.3991 0.3502 0.4223 0.39 0.26 0.37 0.38 0.3707 0.39 1 T 0.0 B 0.0 B . . 0.000 P -1.29 N 1.75 T -0.929 T 0.000 T 0.056 -0.688 1.011 2.11 0.129 0.044 2.304 -0.687781 NA 1 0.360056 0.347134 ID=COSM429535;OCCURENCE=1(breast) 0.341 NA 8.2317774 829 19 12772090 12772090 C T exonic MAN2B1 NA nonsynonymous SNV MAN2B1:NM_000528:exon7:c.G1010A:p.R337Q,MAN2B1:NM_001173498:exon7:c.G1010A:p.R337Q exonic ENSG00000104774 NA nonsynonymous SNV ENSG00000104774:ENST00000221363:exon7:c.G1010A:p.R337Q,ENSG00000104774:ENST00000456935:exon7:c.G1010A:p.R337Q NA NA 19p13.2 NA NA NA NA rs1133330 0.26 0.26 0.259 0.248403 0.3926 0.0615 0.255 0.3086 0.2065 0.38 0.05 0.29 0.28 0.3104 0.4 0.29 T 0.046 B 0.012 B 0.152 N 0.999 P -0.035 N -1.27 T -1.100 T 0.000 T 0.041 1.83 12.08 -5.32 -0.929 -0.041 13.453 1.830324 1.830324 0.42 0.398953 0.312982 ID=COSM1582962;OCCURENCE=1(meninges) 0.283 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079070.3;CLNDSDB=.;CLNDSDBID=. 8.2313804 829 9 78506187 78506187 T C exonic PCSK5 NA synonymous SNV PCSK5:NM_001190482:exon1:c.T90C:p.C30C,PCSK5:NM_006200:exon1:c.T90C:p.C30C exonic ENSG00000099139 NA synonymous SNV ENSG00000099139:ENST00000376752:exon1:c.T90C:p.C30C,ENSG00000099139:ENST00000376767:exon1:c.T90C:p.C30C,ENSG00000099139:ENST00000545128:exon1:c.T90C:p.C30C Score=698;Name=lod=913 NA 9q21.13 NA Name=Pol2 Name=54 NA rs7040769 0.18 0.18 0.19 0.192093 0.1441 NA 0.1124 0.525 0.046 0.14 NA 0.12 0.47 0.1493 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.905361 1.905361 NA 0.14314 0.462988 NA 0.181 NA 8.2301266 829 10 60588553 60588553 T C exonic BICC1 NA nonsynonymous SNV BICC1:NM_001080512:exon21:c.T2827C:p.S943P exonic ENSG00000122870 NA nonsynonymous SNV ENSG00000122870:ENST00000373886:exon21:c.T2827C:p.S943P Score=556;Name=lod=243 NA 10q21.1 NA NA NA NA rs4948550 0.64 0.64 0.61 0.607428 0.6909 0.7292 0.7334 0.3759 0.6196 0.71 0.74 0.7 0.36 0.7003 0.74 0.54 T 0.0 B 0.0 B 0.000 N 0.000 P -0.695 N 1.77 T -1.023 T 0.000 T 0.048 -0.193 3.062 3.93 0.833 3.586 9.783 -0.192996 NA 1 0.712442 0.44099 NA 0.601 NA 8.2296914 829 3 3139957 3139957 T C exonic IL5RA NA nonsynonymous SNV IL5RA:NM_001243099:exon6:c.A385G:p.I129V,IL5RA:NM_175726:exon6:c.A385G:p.I129V,IL5RA:NM_175727:exon6:c.A385G:p.I129V,IL5RA:NM_175728:exon6:c.A385G:p.I129V,IL5RA:NM_000564:exon7:c.A385G:p.I129V,IL5RA:NM_175724:exon7:c.A385G:p.I129V,IL5RA:NM_175725:exon7:c.A385G:p.I129V exonic ENSG00000091181 NA nonsynonymous SNV ENSG00000091181:ENST00000418488:exon4:c.A385G:p.I129V,ENSG00000091181:ENST00000383846:exon6:c.A385G:p.I129V,ENSG00000091181:ENST00000438560:exon6:c.A385G:p.I129V,ENSG00000091181:ENST00000445701:exon6:c.A385G:p.I129V,ENSG00000091181:ENST00000446632:exon6:c.A385G:p.I129V,ENSG00000091181:ENST00000456302:exon6:c.A385G:p.I129V,ENSG00000091181:ENST00000256452:exon7:c.A385G:p.I129V,ENSG00000091181:ENST00000311981:exon7:c.A385G:p.I129V,ENSG00000091181:ENST00000430514:exon7:c.A385G:p.I129V NA NA 3p26.2 NA NA NA NA rs2290610 0.38 0.38 0.375 0.428115 0.3489 0.4097 0.3991 0.4047 0.5808 0.34 0.37 0.41 0.44 0.3884 0.45 1 T 0.001 B 0.003 B 0.531 N 1.000 P -0.195 N 0.6 T -0.967 T 0.000 T 0.102 -2.617 0 -4.22 -1.344 -0.613 12.851 -2.61711 NA 1 0.366512 0.391739 NA 0.413 NA 8.2295214 829 8 145154910 145154910 G A exonic SHARPIN NA nonsynonymous SNV SHARPIN:NM_030974:exon3:c.C439T:p.P147S exonic ENSG00000179526 NA nonsynonymous SNV ENSG00000179526:ENST00000359551:exon3:c.C439T:p.P147S,ENSG00000179526:ENST00000398712:exon3:c.C439T:p.P147S NA NA 8q24.3 NA NA NA NA rs11541805 0.02 0.02 0.008 0.0123802 0.0408 0.001 0.0202 0.0023 0.0031 0.04 NA 0.02 0.0041 0.0255 0.04 0.27 T 0.036 B 0.021 B 0.000 N 1.000 N 0.77 N 1.94 T -1.062 T 0.016 T 0.056 -0.144 3.296 2.73 0.855 0.245 6.261 -0.143979 NA 0.31 0.038052 0.00725 NA 0.014 NA 8.2289814 829 15 85447431 85447431 G A exonic SLC28A1 NA nonsynonymous SNV SLC28A1:NM_004213:exon7:c.G565A:p.V189I exonic ENSG00000156222 NA nonsynonymous SNV ENSG00000156222:ENST00000286749:exon6:c.G565A:p.V189I,ENSG00000156222:ENST00000538177:exon6:c.G565A:p.V189I,ENSG00000156222:ENST00000394573:exon7:c.G565A:p.V189I,ENSG00000156222:ENST00000537216:exon7:c.G565A:p.V189I,ENSG00000156222:ENST00000537624:exon7:c.G565A:p.V189I,ENSG00000156222:ENST00000537703:exon7:c.G331A:p.V111I NA NA 15q25.3 NA NA NA NA rs2290272 0.35 0.35 0.303 0.383187 0.3638 0.375 0.5058 0.1914 0.5838 0.38 0.36 0.48 0.19 0.3912 0.48 1 T 0.035 B 0.024 B 0.160 N 0.001 P -0.585 N 2.7 T -1.039 T 0.000 T 0.084 -2.044 0.006 -5.87 -1.600 -0.604 9.469 -2.04395 NA 1 0.35043 0.218339 ID=COSM147964;OCCURENCE=1(stomach) 0.348 NA 8.2279034 830 3 53906513 53906513 G A exonic ACTR8 NA synonymous SNV ACTR8:NM_022899:exon10:c.C1200T:p.I400I exonic ENSG00000113812 NA synonymous SNV ENSG00000113812:ENST00000231909:exon5:c.C315T:p.I105I,ENSG00000113812:ENST00000335754:exon10:c.C1200T:p.I400I,ENSG00000113812:ENST00000482349:exon10:c.C867T:p.I289I Score=514;Name=lod=163 NA 3p21.1 NA NA NA NA rs4687757 0.66 0.66 0.68 0.690296 0.4513 0.9444 0.6196 0.7118 0.6953 0.43 0.95 0.62 0.73 0.554 0.95 . . . . . . . . 0.000 P . . . . -1.044 T 0.000 T . -0.087 3.572 -4.73 -1.434 0.244 15.723 -0.087344 NA NA 0.438256 0.670903 NA 0.674 NA 8.2231106 830 19 7571030 7571030 T A exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon7:c.T1186A:p.Y396N exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon7:c.T1186A:p.Y396N NA NA 19p13.2 NA Name=HEY1,AP-2gamma,IRF1,USF-1,Sin3Ak-20,Pol2-4H8,Max,USF2,Mxi1_(bHLH),Pol2 NA NA rs3826736 0.42 0.42 0.424 0.403554 0.3728 0.3165 0.4035 0.5613 0.3119 0.38 0.31 0.44 0.58 0.3678 0.58 0.35 T 0.0 B 0.0 B 0.773 N 1.000 P -1.78 N 2.69 T -0.957 T 0.000 T 0.022 0.474 6.574 2.35 0.196 0.098 2.809 0.474265 NA 1 0.37 0.528143 NA 0.457 NA 8.2227334 830 2 26534801 26534801 G A exonic GPR113 NA nonsynonymous SNV GPR113:NM_153835:exon8:c.C1198T:p.H400Y,GPR113:NM_001145169:exon10:c.C1588T:p.H530Y,GPR113:NM_001145168:exon11:c.C1795T:p.H599Y exonic ENSG00000173567 NA nonsynonymous SNV ENSG00000173567:ENST00000541401:exon5:c.C604T:p.H202Y,ENSG00000173567:ENST00000333478:exon8:c.C1198T:p.H400Y,ENSG00000173567:ENST00000447444:exon8:c.C1198T:p.H400Y,ENSG00000173567:ENST00000421160:exon10:c.C1588T:p.H530Y,ENSG00000173567:ENST00000311519:exon11:c.C1795T:p.H599Y NA NA 2p23.3 NA NA NA NA rs7568529 0.72 0.72 0.701 0.671326 0.7028 0.754 0.7219 0.6195 0.5879 0.72 0.8 0.7 0.64 0.6956 0.8 0.28 T 0.012 B 0.071 B . . 0.998 P 1.67 L 2.96 T -0.968 T 0.000 T 0.124 0.304 5.647 5.18 2.906 2.306 9.522 0.303959 NA 0.04 0.714651 0.626872 NA 0.507 NA 8.2202824 830 4 141598126 141598126 C T exonic TBC1D9 NA synonymous SNV TBC1D9:NM_015130:exon6:c.G981A:p.Q327Q exonic ENSG00000109436 NA synonymous SNV ENSG00000109436:ENST00000442267:exon6:c.G981A:p.Q327Q Score=663;Name=lod=662 NA 4q31.21 Score=837;Name=V$TAL1BETAE47_01 NA NA Score=152;Name=1798264_0_-_152 rs2303911 0.14 0.14 0.113 0.100439 0.1581 0.0853 0.072 0.0991 0.0787 0.18 0.11 0.11 0.12 0.1382 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07173 NA NA 0.150932 0.115726 NA 0.087 NA 8.2194346 830 1 43119661 43119661 C A exonic CCDC30 NA nonsynonymous SNV CCDC30:NM_001080850:exon16:c.C2314A:p.H772N exonic ENSG00000186409 NA nonsynonymous SNV ENSG00000186409:ENST00000390640:exon12:c.C1681A:p.H561N,ENSG00000186409:ENST00000340612:exon15:c.C2314A:p.H772N,ENSG00000186409:ENST00000507855:exon15:c.C1681A:p.H561N,ENSG00000186409:ENST00000342022:exon16:c.C2314A:p.H772N,ENSG00000186409:ENST00000428554:exon23:c.C2314A:p.H772N,ENSG00000186409:ENST00000477155:exon23:c.C1408A:p.H470N NA NA 1p34.2 NA NA NA NA rs16829829 0.06 0.06 0.053 0.0746805 0.0328 0.001 0.0389 0.1853 0.0695 0.03 NA 0.06 0.16 0.0449 0.16 0.04 D 0.007 B 0.005 B 0.880 N 1.000 P 0.895 L 0.87 T -1.064 T 0.000 T 0.062 0.121 4.652 1.38 -0.002 -0.372 4.642 0.121203 NA 0 0.037326 0.154108 NA 0.043 NA 8.2183074 830 1 213009469 213009469 A G exonic C1orf227 NA nonsynonymous SNV C1orf227:NM_001024601:exon2:c.T23C:p.I8T exonic ENSG00000185523 NA nonsynonymous SNV ENSG00000185523:ENST00000332912:exon2:c.T23C:p.I8T NA NA 1q32.3 NA NA NA NA rs10864004 0.67 0.67 0.675 0.660543 0.7366 0.5407 0.464 0.7943 0.6646 0.75 0.54 0.53 0.82 0.672 0.82 1 T 0.0 B 0.0 B 0.041 N 1.000 P . . 0.97 T -1.041 T 0.000 T 0.017 -2.892 0.001 -8.99 -5.519 -5.805 3.346 -2.892131 NA 0.97 0.707238 0.796868 NA 0.71 NA 8.2174954 830 12 988894 988894 G A exonic WNK1 NA synonymous SNV WNK1:NM_018979:exon11:c.G2529A:p.Q843Q exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000535698:exon3:c.G339A:p.Q113Q,ENSG00000060237:ENST00000340908:exon8:c.G1308A:p.Q436Q,ENSG00000060237:ENST00000315939:exon11:c.G2529A:p.Q843Q,ENSG00000060237:ENST00000530271:exon13:c.G4023A:p.Q1341Q Score=433;Name=lod=77 NA 12p13.33 Score=818;Name=V$OCT1_01 NA Name=61 NA rs9804992 0.13 0.13 0.123 0.145767 0.1382 0.1091 0.2003 0.1203 0.1871 0.14 0.11 0.18 0.1 0.1542 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041474 NA NA 0.15686 0.13005 ID=COSM147388;OCCURENCE=1(stomach) 0.239 NA 8.2174066 830 2 225346646 225346646 T C exonic CUL3 NA synonymous SNV CUL3:NM_001257197:exon13:c.A1794G:p.Q598Q,CUL3:NM_001257198:exon14:c.A2010G:p.Q670Q,CUL3:NM_003590:exon14:c.A1992G:p.Q664Q exonic ENSG00000036257 NA synonymous SNV ENSG00000036257:ENST00000344951:exon13:c.A1794G:p.Q598Q,ENSG00000036257:ENST00000264414:exon14:c.A1992G:p.Q664Q,ENSG00000036257:ENST00000409096:exon14:c.A1920G:p.Q640Q,ENSG00000036257:ENST00000409777:exon14:c.A1920G:p.Q640Q Score=658;Name=lod=627 NA 2q36.2 Score=889;Name=V$CDP_02 NA NA Score=128;Name=1376849_0_+_128 rs2070127 0.2 0.2 0.181 0.232628 0.1312 0.2401 0.2262 0.2534 0.3057 0.13 0.24 0.22 0.23 0.1845 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827549 NA NA 0.133605 0.253972 NA 0.188 NA 8.2173616 830 3 10089723 10089723 G A exonic FANCD2 NA synonymous SNV FANCD2:NM_001018115:exon16:c.G1401A:p.T467T,FANCD2:NM_033084:exon16:c.G1401A:p.T467T exonic ENSG00000144554 NA synonymous SNV ENSG00000144554:ENST00000287647:exon16:c.G1401A:p.T467T,ENSG00000144554:ENST00000383806:exon16:c.G1401A:p.T467T,ENSG00000144554:ENST00000383807:exon16:c.G1401A:p.T467T,ENSG00000144554:ENST00000419585:exon16:c.G1401A:p.T467T Score=483;Name=lod=122 NA 3p25.3 NA Name=p300,ERalpha_a,FOXA1_(C-20) Name=9 NA rs12330369 NA NA 0.32 NA NA NA NA NA NA NA NA NA NA 0.4495 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556858 NA NA NA NA NA NA NA 8.2171666 830 6 12164612 12164612 C G exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon9:c.C8075G:p.A2692G exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000541134:exon4:c.C1670G:p.A557G,ENSG00000095951:ENST00000379388:exon9:c.C8075G:p.A2692G NA NA 6p24.1 NA NA Name=37 NA rs1042054 0.03 0.03 0.022 0.0283546 0.0408 0.0248 0.0418 0.0083 0.0368 0.04 0.02 0.05 0.002 0.0363 0.05 0.53 T 0.0 B 0.0 B 0.320 N 1.000 N 0.895 L 3.0 T -0.936 T 0.014 T 0.037 0.041 4.229 -0.348 -0.781 0.027 4.572 0.041377 NA NA 0.039108 0.013026 NA 0.022 NA 8.2171254 830 2 118575215 118575215 C G exonic DDX18 NA nonsynonymous SNV DDX18:NM_006773:exon2:c.C281G:p.T94S exonic ENSG00000088205 NA nonsynonymous SNV ENSG00000088205:ENST00000263239:exon2:c.C281G:p.T94S Score=251;Name=lod=14 NA 2q14.1 NA NA NA NA rs1052637 0.38 0.38 0.382 0.426917 0.3688 0.2282 0.3602 0.6263 0.4693 0.37 0.22 0.35 0.61 0.3822 0.61 0.93 T 0.02 B 0.006 B 0.032 N 0.997 P 1.78 L 2.03 T -0.908 T 0.000 T 0.054 0.356 5.931 2.2 0.480 0.094 6.210 0.355794 NA 0.52 0.365465 0.579019 NA 0.464 NA 8.2168684 830 12 14993439 14993439 C T exonic ART4 NA nonsynonymous SNV ART4:NM_021071:exon2:c.G793A:p.D265N exonic ENSG00000111339 NA nonsynonymous SNV ENSG00000111339:ENST00000228936:exon2:c.G793A:p.D265N,ENSG00000111339:ENST00000420600:exon2:c.G742A:p.D248N Score=278;Name=lod=18 NA 12p12.3 NA NA NA NA rs11276 0.28 0.28 0.256 0.292732 0.3728 0.0982 0.3746 0.2685 0.3855 0.36 0.09 0.41 0.28 0.349 0.41 1 T 0.0 B 0.001 B 0.011 N 0.000 P . . 3.22 T -0.934 T 0.000 T 0.016 -1.813 0.009 1.07 -0.052 0.311 0.553 -1.812577 NA 1 0.395349 0.279165 ID=COSM147449;OCCURENCE=1(stomach),1(large_intestine) 0.428 CLINSIG=pathogenic;CLNDBN=DOMBROCK_BLOOD_GROUP;CLNREVSTAT=single;CLNACC=RCV000019304.26;CLNDSDB=.;CLNDSDBID=. 8.2161844 830 17 55183813 55183813 A G exonic AKAP1 NA nonsynonymous SNV AKAP1:NM_003488:exon2:c.A988G:p.S330G,AKAP1:NM_001242902:exon3:c.A988G:p.S330G,AKAP1:NM_001242903:exon3:c.A988G:p.S330G exonic ENSG00000121057 NA nonsynonymous SNV ENSG00000121057:ENST00000314126:exon2:c.A988G:p.S330G,ENSG00000121057:ENST00000337714:exon2:c.A988G:p.S330G,ENSG00000121057:ENST00000481416:exon2:c.A988G:p.S330G,ENSG00000121057:ENST00000539273:exon2:c.A988G:p.S330G,ENSG00000121057:ENST00000572557:exon2:c.A988G:p.S330G,ENSG00000121057:ENST00000571629:exon3:c.A988G:p.S330G NA NA 17q22 NA NA NA NA rs34535433 0.05 0.05 0.06 0.0744808 0.1123 0.006 0.0504 0.1142 0.0695 0.08 0.01 0.03 0.08 0.0052 0.08 0.65 T 0.0 B 0.0 B . . 1.000 P 0 N 2.63 T -0.926 T 0.001 T 0.074 0.033 4.183 -2.24 -0.573 0.675 7.475 0.032588 NA 0.42 NA NA NA 0.022 NA 8.2158334 831 19 52249947 52249947 C G exonic FPR1 NA nonsynonymous SNV FPR1:NM_002029:exon2:c.G301C:p.V101L,FPR1:NM_001193306:exon3:c.G301C:p.V101L exonic ENSG00000171051 NA nonsynonymous SNV ENSG00000171051:ENST00000304748:exon2:c.G301C:p.V101L,ENSG00000171051:ENST00000600815:exon2:c.G301C:p.V101L,ENSG00000171051:ENST00000595042:exon3:c.G301C:p.V101L NA NA 19q13.41 NA NA NA NA rs2070745 0.39 0.39 0.343 0.39377 0.3718 0.4861 0.4986 0.3086 0.362 0.38 0.47 0.46 0.26 0.3891 0.47 0.46 T 0.001 B 0.023 B 0.000 D 1.000 P 1.85 L 1.24 T -0.917 T 0.000 T 0.054 -1.369 0.026 -2.04 -0.599 0.065 3.432 -1.368558 NA 0.14 0.357558 0.315252 ID=COSM148708;OCCURENCE=1(stomach),1(large_intestine) 0.486 NA 8.2148754 831 7 82764425 82764425 C G exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon3:c.G2441C:p.S814T,PCLO:NM_033026:exon3:c.G2441C:p.S814T exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon3:c.G2441C:p.S814T,ENSG00000186472:ENST00000423517:exon3:c.G2441C:p.S814T NA NA 7q21.11 NA NA NA NA rs2877 0.78 0.78 0.77 0.808307 0.6839 0.9931 0.781 0.6936 0.9202 0.69 1 0.77 0.67 0.7546 1 0 D 0.0 B 0.0 B . . 1.000 P -0.895 N 2.36 T -0.968 T 0.000 T 0.035 -1.187 0.079 3.89 0.863 1.287 1.081 -1.186532 NA 1 0.680664 0.709052 NA 0.775 NA 8.2141694 831 6 46977783 46977783 C T exonic GPR110 NA nonsynonymous SNV GPR110:NM_153840:exon11:c.G1388A:p.R463H exonic ENSG00000153292 NA nonsynonymous SNV ENSG00000153292:ENST00000283297:exon5:c.G797A:p.R266H,ENSG00000153292:ENST00000371253:exon11:c.G1388A:p.R463H NA NA 6p12.3 NA NA NA NA rs45598235 0.04 0.04 0.051 0.0371406 0.0447 NA 0.0389 0.0787 0.0102 0.04 NA 0.04 0.09 0.0365 0.09 0.21 T 0.0 B 0.0 B 0.369 N 1.000 N -0.64 N 1.37 T -1.003 T 0.013 T 0.017 0.799 8.205 -3.63 -0.181 -0.885 6.970 0.79893 NA 0.56 0.03814 0.085792 NA 0.058 NA 8.2139934 831 17 40822678 40822678 C T exonic PLEKHH3 NA synonymous SNV PLEKHH3:NM_024927:exon10:c.G1467A:p.G489G exonic ENSG00000068137 NA synonymous SNV ENSG00000068137:ENST00000293349:exon10:c.G1458A:p.G486G,ENSG00000068137:ENST00000412503:exon10:c.G1458A:p.G486G,ENSG00000068137:ENST00000591022:exon10:c.G1467A:p.G489G,ENSG00000068137:ENST00000591196:exon10:c.G1467A:p.G489G Score=519;Name=lod=171 NA 17q21.2 Score=943;Name=V$PAX4_03 NA Name=5 NA rs2277618 0.23 0.23 0.189 0.212859 0.1421 0.5347 0.2378 0.0098 0.2106 0.15 0.54 0.22 0.02 0.1847 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432917 1.432917 NA 0.12593 0.031775 NA 0.072 NA 8.2139366 831 17 72937605 72937605 G A exonic OTOP3 NA nonsynonymous SNV OTOP3:NM_001272005:exon2:c.G137A:p.R46Q,OTOP3:NM_178233:exon2:c.G191A:p.R64Q exonic ENSG00000182938 NA nonsynonymous SNV ENSG00000182938:ENST00000328801:exon2:c.G191A:p.R64Q NA NA 17q25.1 NA NA NA NA rs7210616 0.61 0.61 0.616 0.5627 0.7326 0.5665 0.6902 0.3351 0.6012 0.76 0.62 0.68 0.35 0.6686 0.76 0.32 T 0.008 B 0.001 B 0.023 N 1.000 P 0.69 N 3.05 T -0.988 T 0.000 T 0.042 1.062 9.338 -9.71 -2.531 -2.067 7.185 1.062352 NA 0.25 0.718961 0.409855 ID=COSM330355;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.471 NA 8.2131724 831 19 10672493 10672493 C T exonic KRI1 NA nonsynonymous SNV KRI1:NM_023008:exon5:c.G430A:p.G144R exonic ENSG00000129347 NA nonsynonymous SNV ENSG00000129347:ENST00000361821:exon4:c.G418A:p.G140R,ENSG00000129347:ENST00000312962:exon5:c.G430A:p.G144R,ENSG00000129347:ENST00000539027:exon5:c.G403A:p.G135R Score=414;Name=lod=64 NA 19p13.2 NA NA NA NA rs12984043 0.27 0.27 0.249 0.261581 0.4036 0.2034 0.2522 0.1362 0.3517 0.4 0.19 0.3 0.14 0.3376 0.4 0.41 T 0.05 B 0.005 B 0.051 N 0.988 P 1.845 L 1.47 T -0.932 T 0.000 T 0.258 0.518 6.809 1.67 0.888 3.193 8.125 0.518267 NA 0.36 0.379651 0.171584 ID=COSM148508;OCCURENCE=1(stomach) 0.37 NA 8.2124824 831 17 73513289 73513289 C G exonic TSEN54 NA synonymous SNV TSEN54:NM_207346:exon4:c.C333G:p.R111R exonic ENSG00000182173 NA synonymous SNV ENSG00000182173:ENST00000434205:exon3:c.C30G:p.R10R,ENSG00000182173:ENST00000583173:exon3:c.C168G:p.R56R,ENSG00000182173:ENST00000583818:exon3:c.C228G:p.R76R,ENSG00000182173:ENST00000333213:exon4:c.C333G:p.R111R Score=405;Name=lod=59 NA 17q25.1 NA Name=Sin3Ak-20,ELF1_(SC-631) Name=43 NA rs6501818 0.16 0.16 0.153 0.163139 0.1421 0.0298 0.1066 0.351 0.1084 0.14 0.03 0.15 0.37 0.1816 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333558 1.333558 NA 0.131426 0.330451 NA 0.275 NA 8.2115406 831 17 64222164 64222164 C T exonic APOH NA nonsynonymous SNV APOH:NM_000042:exon3:c.G320A:p.S107N exonic ENSG00000091583 NA nonsynonymous SNV ENSG00000091583:ENST00000205948:exon3:c.G320A:p.S107N,ENSG00000091583:ENST00000581797:exon3:c.G140A:p.S47N,ENSG00000091583:ENST00000577982:exon4:c.G320A:p.S107N NA NA 17q24.2 NA NA NA NA rs1801692 0.03 0.03 0.021 0.0289537 0.0388 0.0327 0.0173 0.0113 0.047 0.04 0.02 0.03 0.01 0.0406 0.045 0.67 T 0.0 B 0.001 B 0.005 N 1.000 N 0.6 N -0.13 T -1.075 T 0.018 T 0.146 0.633 7.401 -2.29 -0.189 -0.665 6.596 0.632672 NA 0.8 0.045465 0.015433 NA 0.007 NA 8.2084684 831 5 96086334 96086334 G C exonic CAST NA nonsynonymous SNV CAST:NM_173060:exon17:c.G1157C:p.C386S,CAST:NM_001042440:exon18:c.G1349C:p.C450S,CAST:NM_001190442:exon19:c.G1184C:p.C395S exonic ENSG00000153113 NA nonsynonymous SNV ENSG00000153113:ENST00000515663:exon5:c.G392C:p.C131S,ENSG00000153113:ENST00000508579:exon6:c.G368C:p.C123S,ENSG00000153113:ENST00000504465:exon15:c.G1007C:p.C336S,ENSG00000153113:ENST00000509903:exon16:c.G1118C:p.C373S,ENSG00000153113:ENST00000309190:exon17:c.G1157C:p.C386S,ENSG00000153113:ENST00000325674:exon18:c.G1367C:p.C456S,ENSG00000153113:ENST00000341926:exon18:c.G1223C:p.C408S,ENSG00000153113:ENST00000395812:exon18:c.G1349C:p.C450S,ENSG00000153113:ENST00000510156:exon18:c.G1223C:p.C408S,ENSG00000153113:ENST00000511049:exon18:c.G1181C:p.C394S,ENSG00000153113:ENST00000511782:exon18:c.G1181C:p.C394S,ENSG00000153113:ENST00000338252:exon19:c.G1184C:p.C395S,ENSG00000153113:ENST00000359176:exon19:c.G1415C:p.C472S,ENSG00000153113:ENST00000508608:exon19:c.G1361C:p.C454S,ENSG00000153113:ENST00000510756:exon19:c.G1406C:p.C469S,ENSG00000153113:ENST00000395813:exon20:c.G1472C:p.C491S,ENSG00000153113:ENST00000508830:exon21:c.G1472C:p.C491S NA NA 5q15 NA NA NA NA rs754615 0.3 0.3 0.293 0.29373 0.4105 0.1161 0.2911 0.3064 0.3415 0.4 0.15 0.33 0.3 0.3337 0.4 0.97 T 0.0 B 0.001 B 0.954 N 1.000 P -2.305 N 2.5 T -0.954 T 0.000 T 0.195 0.284 5.535 4.46 0.719 0.989 12.606 0.283691 NA 0.8 0.381163 0.322288 NA 0.283 NA 8.2079704 831 9 2828742 2828742 C A exonic KIAA0020 NA nonsynonymous SNV KIAA0020:NM_014878:exon9:c.G889T:p.V297L exonic ENSG00000080608 NA nonsynonymous SNV ENSG00000080608:ENST00000397885:exon9:c.G889T:p.V297L Score=586;Name=lod=322 NA 9p24.2 NA NA NA NA rs2270891 0.05 0.05 0.047 0.048722 0.0427 0.0615 0.0576 0.0499 0.0337 0.04 0.08 0.04 0.04 0.0431 0.08 0.3 T 0.0 B 0.0 B 0.126 N 0.999 N 0.345 N 2.72 T -0.963 T 0.001 T 0.055 2.217 13.37 0.669 -0.063 0.634 7.629 2.216896 2.216896 NA 0.039651 0.049523 NA 0.087 NA 8.2078824 831 2 225750861 225750861 C T exonic DOCK10 NA synonymous SNV DOCK10:NM_014689:exon6:c.G531A:p.A177A exonic ENSG00000135905 NA synonymous SNV ENSG00000135905:ENST00000258390:exon6:c.G531A:p.A177A,ENSG00000135905:ENST00000409592:exon6:c.G513A:p.A171A NA NA 2q36.2 Score=726;Name=V$PAX4_04 Name=YY1,c-Fos Name=115 NA rs2304336 0.19 0.19 0.227 0.224241 0.1412 0.0556 0.0937 0.5272 0.1667 0.14 0.06 0.08 0.49 0.1676 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04277 NA NA 0.150742 0.471503 NA 0.341 NA 8.2071246 831 17 18923180 18923180 C T exonic SLC5A10 NA nonsynonymous SNV SLC5A10:NM_001270648:exon12:c.C1484T:p.A495V,SLC5A10:NM_001270649:exon12:c.C1457T:p.A486V,SLC5A10:NM_001042450:exon13:c.C1565T:p.A522V,SLC5A10:NM_152351:exon13:c.C1613T:p.A538V exonic ENSG00000154025 NA nonsynonymous SNV ENSG00000154025:ENST00000395643:exon12:c.C1484T:p.A495V,ENSG00000154025:ENST00000417251:exon12:c.C1457T:p.A486V,ENSG00000154025:ENST00000317977:exon13:c.C1475T:p.A492V,ENSG00000154025:ENST00000395642:exon13:c.C1475T:p.A492V,ENSG00000154025:ENST00000395645:exon13:c.C1565T:p.A522V,ENSG00000154025:ENST00000395647:exon13:c.C1613T:p.A538V NA NA 17p11.2 NA NA NA NA rs12604020 0.11 0.11 0.116 0.148363 0.0298 0.1339 0.0634 0.3064 0.1319 0.03 0.14 0.06 0.26 0.0756 0.26 0.59 T 0.0 B 0.002 B 0.891 N 1.000 P 0.27 N -2.04 D -1.130 T 0.000 T 0.117 0.326 5.769 0.090 -0.206 -0.686 9.178 0.326227 NA 0.51 0.020814 0.257376 NA 0.152 NA 8.2071194 831 19 8808942 8808942 A G exonic ACTL9 NA nonsynonymous SNV ACTL9:NM_178525:exon1:c.T110C:p.F37S exonic ENSG00000181786 NA nonsynonymous SNV ENSG00000181786:ENST00000324436:exon1:c.T110C:p.F37S NA NA 19p13.2 NA NA NA NA rs2340550 0.78 0.78 0.772 0.791733 0.7117 0.874 0.7233 0.7995 0.8272 0.71 0.86 0.73 0.81 0.7357 0.86 0.03 D 0.0 B 0.0 B 0.138 N 1.000 P 0 N -3.4 D -0.870 T 0.000 T 0.018 -0.81 0.649 2.06 0.347 0.444 6.063 -0.810376 NA 0.56 0.679371 0.786006 NA 0.652 NA 8.2065624 831 9 4625415 4625415 T C exonic SPATA6L NA nonsynonymous SNV SPATA6L:NM_001039395:exon5:c.A407G:p.H136R exonic ENSG00000106686 NA nonsynonymous SNV ENSG00000106686:ENST00000475086:exon5:c.A407G:p.H136R,ENSG00000106686:ENST00000461761:exon6:c.A581G:p.H194R,ENSG00000106686:ENST00000381890:exon7:c.A623G:p.H208R,ENSG00000106686:ENST00000454239:exon7:c.A581G:p.H194R,ENSG00000106686:ENST00000381895:exon9:c.A212G:p.H71R NA NA 9p24.1 NA NA NA NA rs45463394 0.06 0.06 0.054 0.0714856 0.0398 0.0149 0.0922 0.1089 0.0971 0.04 0.02 0.09 0.13 0.0499 0.13 1 T 0.0 B 0.001 B 0.005 N 1.000 N -1.59 N 2.67 T -0.974 T 0.000 T 0.022 -1.264 0.047 2.3 0.271 -0.055 7.994 -1.263688 NA 1 0.037549 0.097177 NA 0.101 NA 8.2060844 831 4 187630597 187630597 C G exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.G385C:p.V129L exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.G385C:p.V129L,ENSG00000083857:ENST00000509647:exon2:c.G385C:p.V129L NA NA 4q35.2 NA NA NA NA rs41278611 0.02 0.02 0.024 0.0241613 0.0517 NA 0.0274 NA 0.0511 0.05 NA 0.03 NA 0.0338 0.05 0.93 T 0.0 B 0.001 B 0.067 N 1.000 N -2.2 N 0.19 T -0.999 T 0.006 T 0.208 -3.447 0.001 2.49 0.074 0.856 10.124 -3.446832 NA 1 0.042667 0.007824 NA 0.029 NA 8.2051664 832 2 95537622 95537622 A G exonic TEKT4 NA nonsynonymous SNV TEKT4:NM_144705:exon1:c.A298G:p.S100G exonic ENSG00000163060 NA nonsynonymous SNV ENSG00000163060:ENST00000295201:exon1:c.A298G:p.S100G,ENSG00000163060:ENST00000427593:exon1:c.A298G:p.S100G Score=467;Name=lod=105 NA 2q11.1 NA Name=SUZ12 NA NA rs11164112 0.41 0.41 0.345 0.427516 0.3419 0.4881 0.4467 0.5166 0.319 0.32 0.46 0.38 0.5 0.4214 0.5 0.32 T 0.0 B 0.0 B 0.257 N 1.000 P -1.04 N 4.24 T -1.036 T 0.000 T 0.074 -1.236 0.056 -0.615 -0.228 0.388 3.668 -1.235674 NA 0.21 0.365649 0.490644 NA 0.188 NA 8.2043844 832 12 101561940 101561940 A T exonic SLC5A8 NA synonymous SNV SLC5A8:NM_145913:exon11:c.T1254A:p.G418G exonic ENSG00000256870 NA synonymous SNV ENSG00000256870:ENST00000536262:exon11:c.T1254A:p.G418G Score=542;Name=lod=212 NA 12q23.1 Score=837;Name=V$BRN2_01 Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs9634221 0.22 0.22 0.225 0.192891 0.1362 0.5427 0.0807 0.0703 0.136 0.14 0.53 0.09 0.09 0.1942 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.433087 1.433087 NA 0.132674 0.069451 NA 0.116 NA 8.2035926 832 2 201354935 201354935 C G exonic KCTD18 NA nonsynonymous SNV KCTD18:NM_152387:exon7:c.G1169C:p.C390S exonic ENSG00000155729 NA nonsynonymous SNV ENSG00000155729:ENST00000359878:exon7:c.G1169C:p.C390S,ENSG00000155729:ENST00000409157:exon7:c.G1169C:p.C390S NA NA 2q33.1 NA NA NA NA rs3795969 0.35 0.35 0.331 0.325879 0.3688 0.4365 0.3905 0.2012 0.2904 0.37 0.46 0.34 0.19 0.3663 0.46 1 T 0.0 B 0.0 B 0.007 N 1.000 P -0.895 N 1.69 T -0.907 T 0.000 T 0.017 -0.994 0.269 3.09 0.282 2.289 6.067 -0.994369 NA 1 0.395 0.222878 NA 0.362 NA 8.2032334 832 6 56463410 56463410 T C exonic DST NA nonsynonymous SNV DST:NM_015548:exon27:c.A3923G:p.Q1308R,DST:NM_183380:exon37:c.A4901G:p.Q1634R,DST:NM_001144770:exon38:c.A5021G:p.Q1674R,DST:NM_001144769:exon40:c.A5435G:p.Q1812R exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000244364:exon27:c.A3923G:p.Q1308R,ENSG00000151914:ENST00000446842:exon33:c.A10187G:p.Q3396R,ENSG00000151914:ENST00000370788:exon37:c.A4901G:p.Q1634R,ENSG00000151914:ENST00000421834:exon37:c.A4901G:p.Q1634R,ENSG00000151914:ENST00000312431:exon42:c.A11159G:p.Q3720R,ENSG00000151914:ENST00000361203:exon42:c.A11159G:p.Q3720R,ENSG00000151914:ENST00000370769:exon43:c.A11165G:p.Q3722R,ENSG00000151914:ENST00000370754:exon46:c.A11699G:p.Q3900R NA NA 6p12.1 NA NA NA NA rs4712138 0.34 0.34 0.338 0.328275 0.3837 0.254 0.3804 0.351 0.2802 0.37 0.25 0.4 0.37 0.3562 0.42 0.5 T 0.003 B 0.009 B 0.967 N 1.000 P 1.95 M 0.73 T -1.104 T 0.031 T 0.054 1.436 10.74 -11.8 -3.140 -0.337 6.580 1.435997 1.435997 0.17 0.390629 0.359848 NA 0.391 NA 8.2028044 832 1 43212926 43212926 G A exonic LEPRE1 NA nonsynonymous SNV LEPRE1:NM_001146289:exon14:c.C2072T:p.A691V,LEPRE1:NM_001243246:exon14:c.C2072T:p.A691V exonic ENSG00000117385 NA nonsynonymous SNV ENSG00000117385:ENST00000236040:exon14:c.C2072T:p.A691V,ENSG00000117385:ENST00000397054:exon14:c.C2072T:p.A691V NA NA 1p34.2 NA Name=SMC3_(ab9263),CTCF,Rad21 Name=52 NA rs67014447 0.05 0.05 0.062 0.061901 0.0398 0.001 0.0389 0.1384 0.0603 0.04 NA 0.05 0.12 0.0473 0.13 0.41 T . . . . . . 1.000 N . . 1.28 T -1.031 T 0.001 T 0.047 -1.803 0.009 . 0.000 -0.234 . -1.803442 NA 0 0.043953 0.132547 NA 0.087 NA 8.2022804 832 22 45198009 45198009 A G exonic ARHGAP8,PRR5-ARHGAP8 NA synonymous SNV ARHGAP8:NM_001017526:exon3:c.A132G:p.P44P,ARHGAP8:NM_001198726:exon3:c.A132G:p.P44P,ARHGAP8:NM_181335:exon3:c.A132G:p.P44P,PRR5-ARHGAP8:NM_181334:exon6:c.A498G:p.P166P exonic ENSG00000241484,ENSG00000248405 NA synonymous SNV ENSG00000241484:ENST00000336963:exon3:c.A132G:p.P44P,ENSG00000241484:ENST00000356099:exon3:c.A132G:p.P44P,ENSG00000241484:ENST00000389774:exon3:c.A132G:p.P44P,ENSG00000241484:ENST00000447333:exon3:c.A132G:p.P44P,ENSG00000241484:ENST00000396119:exon4:c.A132G:p.P44P,ENSG00000241484:ENST00000412433:exon5:c.A132G:p.P44P,ENSG00000248405:ENST00000361473:exon6:c.A525G:p.P175P,ENSG00000241484:ENST00000389773:exon6:c.A498G:p.P166P,ENSG00000248405:ENST00000352766:exon9:c.A894G:p.P298P,ENSG00000241484:ENST00000517296:exon9:c.A894G:p.P298P Score=376;Name=lod=45 NA 22q13.31 NA NA NA NA rs2239813 0.6 0.6 0.58 0.638778 0.4781 0.5605 0.6729 0.7935 0.6513 0.47 0.61 0.61 0.77 0.5477 0.77 . . . . . . . . 0.000 P . . . . -0.988 T 0.000 T . -0.308 2.532 -2.83 -0.574 -2.827 0.996 -0.3082 NA NA 0.439767 0.750113 NA 0.514 NA 8.2010996 832 14 70925501 70925501 G C exonic ADAM21 NA nonsynonymous SNV ADAM21:NM_003813:exon2:c.G1285C:p.E429Q exonic ENSG00000139985 NA nonsynonymous SNV ENSG00000139985:ENST00000267499:exon1:c.G1285C:p.E429Q,ENSG00000139985:ENST00000603540:exon2:c.G1285C:p.E429Q NA NA 14q24.2 Score=832;Name=V$FOXO1_02 NA NA NA rs72735760 0.02 0.02 0.023 0.0175719 0.0497 0.005 0.0202 0.0061 0.0112 0.05 0.0017 0.02 0.02 0.0346 0.05 0.54 T 0.051 B 0.06 B 0.226 N 1.000 N 0.565 N 5.28 T -0.892 T 0.001 T 0.064 0.115 4.62 1.38 0.610 0.025 7.149 0.115205 NA 0.37 0.04814 0.012937 NA 0.029 NA 8.2008934 832 19 6468331 6468331 T C exonic DENND1C NA nonsynonymous SNV DENND1C:NM_024898:exon22:c.A1705G:p.M569V exonic ENSG00000205744 NA nonsynonymous SNV ENSG00000205744:ENST00000543576:exon20:c.A1573G:p.M525V,ENSG00000205744:ENST00000381480:exon22:c.A1705G:p.M569V NA NA 19p13.3 NA NA NA NA rs62107586 0.26 0.26 0.238 0.229034 0.3877 0.003 0.245 0.3245 0.1585 0.37 0.0035 0.27 0.36 0.3184 0.43 1 T 0.0 B 0.0 B 0.521 N 1.000 P -0.975 N 3.25 T -0.918 T 0.000 T 0.024 -1.566 0.015 -5.17 -0.799 -1.413 6.100 -1.565636 NA 1 0.429219 0.325724 NA 0.297 NA 8.1980144 832 15 86286787 86286787 C T exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_001270546:exon28:c.C3986T:p.P1329L,AKAP13:NM_006738:exon36:c.C8135T:p.P2712L,AKAP13:NM_007200:exon36:c.C8123T:p.P2708L exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000394510:exon23:c.C2858T:p.P953L,ENSG00000170776:ENST00000361243:exon36:c.C8135T:p.P2712L,ENSG00000170776:ENST00000394518:exon36:c.C8123T:p.P2708L NA NA 15q25.3 NA NA NA NA rs61734378 0.06 0.06 0.04 0.0555112 0.0398 0.0357 0.1844 0.0514 0.0061 0.03 0.03 0.13 0.07 0.054 0.13 0.13 T 0.023 B 0.016 B . . 1.000 N 1.67 L 2.87 T -1.028 T 0.001 T 0.109 0.774 8.086 1.64 0.059 1.410 3.683 0.773548 NA 0 0.041521 0.040645 NA 0.072 NA 8.1980124 832 4 100048414 100048414 T C exonic ADH4 NA nonsynonymous SNV ADH4:NM_000670:exon7:c.A925G:p.I309V exonic ENSG00000198099 NA nonsynonymous SNV ENSG00000198099:ENST00000265512:exon7:c.A925G:p.I309V,ENSG00000198099:ENST00000423445:exon7:c.A982G:p.I328V,ENSG00000198099:ENST00000505590:exon8:c.A982G:p.I328V,ENSG00000198099:ENST00000508393:exon8:c.A982G:p.I328V NA NA 4q23 NA NA NA NA rs1126671 0.82 0.82 0.825 0.847045 0.6968 0.999 0.7709 0.8608 0.8804 0.7 1 0.76 0.84 0.756 1 0.04 D 0.0 B 0.0 B 0.276 N 1.000 P 0.665 N 3.34 T -1.006 T 0.000 T 0.014 -1.223 0.061 -7.29 -2.687 -0.757 3.768 -1.223333 NA 0.46 0.683721 0.822969 NA 0.732 NA 8.1968124 833 2 160086654 160086654 A G exonic TANC1 NA nonsynonymous SNV TANC1:NM_033394:exon27:c.A4717G:p.T1573A exonic ENSG00000115183 NA nonsynonymous SNV ENSG00000115183:ENST00000454300:exon25:c.A4399G:p.T1467A,ENSG00000115183:ENST00000263635:exon27:c.A4717G:p.T1573A NA NA 2q24.2 NA NA NA NA rs55738533 0.41 0.41 0.45 0.509784 0.3728 0.6181 0.6095 0.4607 0.5348 0.29 0.53 0.49 0.39 0.4352 0.53 . . 0.0 B 0.0 B 0.930 N 1.000 P -1.1 N -0.31 T -0.968 T 0.000 T 0.013 -2.545 0.003 -3.12 -1.161 0.704 6.099 -2.5447 NA 0.87 0.330637 0.428314 NA 0.014 NA 8.1946964 833 8 141525327 141525327 A G exonic CHRAC1 NA nonsynonymous SNV CHRAC1:NM_017444:exon3:c.A377G:p.H126R exonic ENSG00000104472 NA nonsynonymous SNV ENSG00000104472:ENST00000220913:exon3:c.A377G:p.H126R NA NA 8q24.3 NA NA NA NA rs2231524 0.04 0.04 0.042 0.0347444 0.0477 0.0397 0.0562 0.0151 0.0276 0.05 0.05 0.04 0.01 0.041 0.05 0.75 T 0.001 B 0.003 B 0.556 N 1.000 N 0 N 1.61 T -1.030 T 0.006 T 0.136 0.364 5.978 -1.31 -0.407 1.145 2.748 0.364473 NA 1 0.050233 0.019519 NA 0.043 NA 8.1944004 833 9 90588970 90588970 C A exonic CDK20 NA nonsynonymous SNV CDK20:NM_178432:exon2:c.G95T:p.C32F exonic ENSG00000156345 NA nonsynonymous SNV ENSG00000156345:ENST00000336654:exon2:c.G95T:p.C32F NA NA 9q22.1 NA NA Name=7 NA rs28364935 0.08 0.08 0.066 0.0740815 0.0507 NA 0.0447 0.2141 0.0061 0.06 NA 0.06 0.21 0.0462 0.21 . . 0.0 B 0.0 B . . 1.000 P . . -0.23 T -1.084 T 0.000 T 0.025 -0.648 1.147 1.56 0.099 0.096 3.487 -0.647886 NA 0.07 0.042442 0.184521 NA 0.072 NA 8.1939914 833 3 124114068 124114068 G A exonic KALRN NA synonymous SNV KALRN:NM_001024660:exon12:c.G2043A:p.K681K,KALRN:NM_003947:exon12:c.G2043A:p.K681K exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000439170:exon4:c.G471A:p.K157K,ENSG00000160145:ENST00000240874:exon12:c.G2043A:p.K681K,ENSG00000160145:ENST00000360013:exon12:c.G2043A:p.K681K,ENSG00000160145:ENST00000460856:exon12:c.G2043A:p.K681K Score=584;Name=lod=315 NA 3q21.2 NA NA NA NA rs9841322 0.09 0.09 0.075 0.0832668 0.1809 0.0208 0.1254 0.0197 0.1033 0.18 0.01 0.11 0.03 0.1278 0.18 . . . . . . . . 0.000 P . . . . -1.082 T 0.000 T . 0.951 8.877 2.59 0.406 0.858 8.728 0.950664 NA NA 0.164186 0.039265 NA 0.058 NA 8.1937806 833 3 186370350 186370350 A G exonic FETUB NA nonsynonymous SNV FETUB:NM_014375:exon7:c.A1079G:p.K360R exonic ENSG00000090512 NA nonsynonymous SNV ENSG00000090512:ENST00000382134:exon5:c.A884G:p.K295R,ENSG00000090512:ENST00000539949:exon5:c.A635G:p.K212R,ENSG00000090512:ENST00000382136:exon6:c.A968G:p.K323R,ENSG00000090512:ENST00000265029:exon7:c.A1079G:p.K360R,ENSG00000090512:ENST00000450521:exon8:c.A1079G:p.K360R NA NA 3q27.3 NA NA NA NA rs7999 0.07 0.07 0.059 0.0732827 0.0427 0.0903 0.0576 0.1165 0.0399 0.04 0.07 0.07 0.14 0.0509 0.14 0.45 T 0.004 B 0.007 B 0.079 N 1.000 P 1.245 L 0.81 T -1.100 T 0.001 T 0.018 0.091 4.489 -2.58 -0.862 -0.269 6.299 0.0906 NA 0.52 0.046163 0.096686 NA 0.043 NA 8.1935704 833 9 90501609 90501609 C T exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C2207T:p.A736V exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.C2207T:p.A736V NA NA 9q22.1 NA NA NA NA rs34791830 0.08 0.08 0.078 0.077476 0.0497 NA 0.036 0.2322 0.0061 0.05 NA 0.04 0.23 0.0466 0.23 0.17 T 0.939 P 0.479 P 0.023 N 1.000 P 0.55 N 3.26 T -1.002 T 0.000 T 0.007 1.509 10.99 0.098 0.022 -0.604 4.701 1.508556 1.508556 0.86 0.043721 0.182705 NA 0.094 NA 8.1933124 833 13 103515085 103515085 G C exonic BIVM-ERCC5,ERCC5 NA nonsynonymous SNV ERCC5:NM_000123:exon8:c.G1586C:p.C529S,BIVM-ERCC5:NM_001204425:exon16:c.G2948C:p.C983S exonic ENSG00000134899,ENSG00000270181 NA nonsynonymous SNV ENSG00000134899:ENST00000355739:exon8:c.G1586C:p.C529S NA NA 13q33.1 NA NA NA NA rs2227869 0.05 0.05 0.041 0.0423323 0.0537 0.0437 0.0231 0.0393 0.047 0.06 0.05 0.03 0.04 0.0441 0.06 0.75 T 0.0 B 0.0 B 0.255 N 1.000 N -1.39 N 3.83 T -0.935 T 0.000 T 0.008 -0.819 0.627 1.94 0.048 0.396 1.725 -0.818683 NA 0.91 0.04314 0.04335 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116991.3;CLNDSDB=.;CLNDSDBID=. 8.1923934 833 1 215987222 215987222 T C exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon49:c.A9595G:p.N3199D exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon49:c.A9595G:p.N3199D,ENSG00000042781:ENST00000366943:exon49:c.A9595G:p.N3199D NA NA 1q41 NA NA NA NA rs4129843 0.07 0.07 0.066 0.0870607 0.0467 0.1577 0.0548 0.0847 0.0818 0.04 0.14 0.04 0.07 0.0553 0.14 0.89 T 0.0 B 0.001 B 0.045 N 1.000 P -1.04 N 2.67 T -0.929 T 0.000 T 0.016 -0.6 1.318 -0.526 -0.067 0.185 12.061 -0.600327 NA 0.97 0.039767 0.078075 NA 0.058 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041957.1|RCV000126256.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.1915664 833 3 183778010 183778010 G C exonic HTR3C NA nonsynonymous SNV HTR3C:NM_130770:exon9:c.G1214C:p.G405A exonic ENSG00000178084 NA nonsynonymous SNV ENSG00000178084:ENST00000318351:exon9:c.G1214C:p.G405A NA NA 3q27.1 NA NA NA NA rs6807362 0.59 0.59 0.6 0.55631 0.5676 0.746 0.6715 0.4418 0.4223 0.56 0.75 0.64 0.43 0.5444 0.75 0.53 T 0.647 P 0.156 B 0.692 N 1.000 P 1.445 L -1.57 D -0.991 T 0.000 T 0.046 -0.492 1.74 -6.84 -0.832 -0.507 6.417 -0.491959 NA 0.68 0.531163 0.471857 ID=COSM149532;OCCURENCE=1(stomach) 0.507 NA 8.1901704 833 19 37488472 37488472 C G exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204839:exon9:c.C1687G:p.P563A,ZNF568:NM_001204838:exon10:c.C1879G:p.P627A exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000455427:exon9:c.C1687G:p.P563A NA NA 19q13.12 NA NA NA NA rs1644698 0.47 0.47 0.45 0.497005 0.5119 0.251 0.5346 0.6006 0.5685 0.52 0.26 0.52 0.61 0.6316 0.61 . . 0.0 B 0.0 B . . 1.000 P -1.505 N 2.44 T -0.947 T 0.000 T 0.039 -1.856 0.009 -3.9 -0.757 -4.299 1.414 -1.855537 NA 1 NA NA NA 0.493 NA 8.1898334 833 5 141336264 141336264 G T exonic PCDH12 NA nonsynonymous SNV PCDH12:NM_016580:exon1:c.C1153A:p.H385N exonic ENSG00000113555 NA nonsynonymous SNV ENSG00000113555:ENST00000231484:exon1:c.C1153A:p.H385N Score=469;Name=lod=107 NA 5q31.3 NA NA NA NA rs164075 0.73 0.73 0.747 NA NA NA NA NA NA 0.53 0.86 0.67 0.93 0.6281 0.93 0.63 T 0.0 B 0.0 B 0.024 N 1.000 P -1.1 N 0.77 T -1.006 T 0.000 T 0.016 -0.337 2.403 2.48 0.358 0.360 6.324 -0.337136 NA 0.64 0.516047 0.860872 NA 0.703 NA 8.1891864 833 7 91712698 91712698 A G exonic AKAP9 NA nonsynonymous SNV AKAP9:NM_005751:exon33:c.A8375G:p.N2792S,AKAP9:NM_147185:exon33:c.A8351G:p.N2784S exonic ENSG00000127914 NA nonsynonymous SNV ENSG00000127914:ENST00000394534:exon7:c.A1913G:p.N638S,ENSG00000127914:ENST00000356239:exon33:c.A8375G:p.N2792S,ENSG00000127914:ENST00000358100:exon34:c.A8411G:p.N2804S,ENSG00000127914:ENST00000359028:exon34:c.A8411G:p.N2804S NA NA 7q21.2 NA NA NA NA rs6960867 0.3 0.3 0.284 0.295927 0.3837 0.1617 0.3458 0.2209 0.41 0.39 0.17 0.36 0.25 0.3593 0.4 0.48 T 0.023 B 0.007 B 0.934 N 1.000 P 1.935 M 0.89 T -0.923 T 0.000 T 0.01 0.57 7.078 -2.13 -0.542 0.398 1.523 0.56965 NA 0.42 0.401279 0.267817 NA 0.312 NA 8.1890544 833 16 28944396 28944396 C G exonic CD19 NA nonsynonymous SNV CD19:NM_001178098:exon3:c.C520G:p.L174V,CD19:NM_001770:exon3:c.C520G:p.L174V exonic ENSG00000177455 NA nonsynonymous SNV ENSG00000177455:ENST00000324662:exon3:c.C520G:p.L174V,ENSG00000177455:ENST00000538922:exon3:c.C520G:p.L174V,ENSG00000177455:ENST00000567541:exon3:c.C520G:p.L174V NA NA 16p11.2 NA Name=Pol2 Name=5 NA rs2904880 0.82 0.82 0.843 0.830272 0.7276 0.9018 0.5504 0.9909 0.8436 0.73 0.89 0.65 0.99 0.7293 0.99 0.15 T 0.0 B 0.0 B 0.664 N 1.000 P 0 N 1.35 T -1.015 T 0.000 T 0.025 1.428 10.71 2.82 0.572 0.092 5.762 1.427882 1.427882 0.26 0.687558 0.929449 NA 0.891 NA 8.1888754 833 4 3006043 3006043 C T exonic GRK4 NA nonsynonymous SNV GRK4:NM_001004056:exon4:c.C329T:p.A110V,GRK4:NM_001004057:exon5:c.C425T:p.A142V,GRK4:NM_182982:exon5:c.C425T:p.A142V exonic ENSG00000125388 NA nonsynonymous SNV ENSG00000125388:ENST00000345167:exon4:c.C329T:p.A110V,ENSG00000125388:ENST00000398051:exon4:c.C329T:p.A110V,ENSG00000125388:ENST00000398052:exon5:c.C425T:p.A142V,ENSG00000125388:ENST00000504933:exon5:c.C425T:p.A142V NA NA 4p16.3 NA NA Name=12 NA rs1024323 0.39 0.39 0.398 0.373203 0.4016 0.1895 0.3833 0.6339 0.1738 0.41 0.18 0.38 0.63 0.3648 0.63 0.27 T 0.001 B 0.004 B 0.001 N 1.000 P -1.15 N 4.65 T -1.109 T 0.000 T 0.043 0.554 6.994 2.11 0.052 0.527 7.587 0.553558 NA 0.21 0.380814 0.59714 NA 0.333 NA 8.1861194 833 10 102048208 102048208 G T exonic PKD2L1 NA nonsynonymous SNV PKD2L1:NM_001253837:exon16:c.C2222A:p.A741D,PKD2L1:NM_016112:exon16:c.C2363A:p.A788D exonic ENSG00000107593 NA nonsynonymous SNV ENSG00000107593:ENST00000338519:exon15:c.C2138A:p.A713D,ENSG00000107593:ENST00000353274:exon15:c.C2278A:p.P760T,ENSG00000107593:ENST00000318222:exon16:c.C2363A:p.A788D NA NA 10q24.31 NA NA NA NA rs12782963 0.07 0.07 0.065 0.0790735 0.0487 0.0615 0.0519 0.1195 0.093 0.05 0.07 0.06 0.1 0.0525 0.1 0.01 D 0.001 B 0.0 B 0.013 N 1.000 P 0.55 N 0.24 T -1.020 T 0.002 T 0.16 0.443 6.405 -1.12 -0.184 -0.587 2.906 0.442893 NA 0 0.046163 0.093963 NA 0.051 NA 8.1859704 833 6 4716016 4716016 A G intergenic ECI2,CDYL dist=580185;dist=60664 NA NA exonic ENSG00000153046 NA nonsynonymous SNV ENSG00000153046:ENST00000328908:exon2:c.A4G:p.T2A NA NA 6p25.1 Score=853;Name=V$FOXJ2_02 NA Name=5 NA rs3812179 0.26 0.26 0.225 0.235224 0.2247 0.2679 0.3256 0.3116 0.045 0.22 0.24 0.29 0.3 0.2126 0.3 1 T 0.0 B 0.0 B . . 1.000 P . . 0.9 T -0.968 T 0.012 T 0.043 -2.025 0.006 2.87 0.362 0.791 2.312 -2.02473 NA 1 0.210233 0.28098 ID=COSM150036;OCCURENCE=1(stomach),1(lung) 0.297 NA 8.1858004 834 7 156742965 156742965 G C exonic NOM1 NA synonymous SNV NOM1:NM_138400:exon1:c.G534C:p.A178A exonic ENSG00000146909 NA synonymous SNV ENSG00000146909:ENST00000275820:exon1:c.G534C:p.A178A Score=503;Name=lod=147 NA 7q36.3 NA Name=ZNF263,ELF1_(SC-631),GABP Name=81 NA rs61734937 0.22 0.22 0.224 0.219449 0.1511 0.2808 0.2421 0.264 0.1503 0.16 0.29 0.19 0.24 0.187 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.287939 2.287939 NA 0.143971 0.265121 NA 0.145 NA 8.1845956 834 19 56702323 56702323 C T exonic ZSCAN5B NA nonsynonymous SNV ZSCAN5B:NM_001080456:exon3:c.G622A:p.V208I exonic ENSG00000197213 NA nonsynonymous SNV ENSG00000197213:ENST00000358992:exon3:c.G622A:p.V208I,ENSG00000197213:ENST00000586855:exon4:c.G622A:p.V208I NA NA 19q13.43 NA NA NA NA rs4801296 0.46 0.46 0.451 0.483027 0.3767 0.4067 0.4294 0.739 0.363 0.38 0.39 0.41 0.72 0.4071 0.72 0.26 T 0.0 B 0.0 B . . 1.000 P -0.29 N 3.4 T -1.040 T 0.000 T 0.013 -0.595 1.338 -2.6 -2.131 -0.563 4.447 -0.594838 NA 0.33 0.366163 0.683159 NA 0.493 NA 8.1833704 834 1 22332008 22332008 T C exonic CELA3A NA synonymous SNV CELA3A:NM_005747:exon3:c.T198C:p.D66D exonic ENSG00000142789 NA synonymous SNV ENSG00000142789:ENST00000290122:exon3:c.T198C:p.D66D,ENSG00000142789:ENST00000374663:exon3:c.T198C:p.D66D Score=358;Name=lod=38 NA 1p36.12 Score=781;Name=V$PAX2_01 Name=CTCFL_(SC-98982),CTCF NA NA rs56968853 NA NA 0.091 NA NA NA NA NA NA NA NA NA NA 0.4838 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91502 NA NA NA NA NA NA NA 8.1828666 834 4 40103767 40103767 G T exonic N4BP2 NA nonsynonymous SNV N4BP2:NM_018177:exon4:c.G302T:p.S101I exonic ENSG00000078177 NA nonsynonymous SNV ENSG00000078177:ENST00000515550:exon3:c.G62T:p.S21I,ENSG00000078177:ENST00000261435:exon4:c.G302T:p.S101I NA NA 4p14 NA NA NA NA rs17511668 0.13 0.13 0.085 0.113818 0.2217 0.0208 0.255 0.0106 0.138 0.23 0.02 0.27 0.01 0.2 0.27 0.01 D 0.465 P 0.165 B 0.805 N 1.000 P 0.55 N 2.16 T -0.988 T 0.000 T 0.215 0.596 7.215 1.32 -0.065 -0.144 1.726 0.596153 NA 0.01 0.23 0.04857 NA 0.058 NA 8.1816334 834 12 57911160 57911160 G A exonic DDIT3 NA synonymous SNV DDIT3:NM_001195056:exon2:c.C99T:p.F33F,DDIT3:NM_001195053:exon3:c.C99T:p.F33F,DDIT3:NM_001195054:exon3:c.C99T:p.F33F,DDIT3:NM_001195055:exon3:c.C99T:p.F33F,DDIT3:NM_001195057:exon3:c.C30T:p.F10F,DDIT3:NM_004083:exon3:c.C30T:p.F10F exonic ENSG00000175197 NA synonymous SNV ENSG00000175197:ENST00000552740:exon2:c.C99T:p.F33F,ENSG00000175197:ENST00000346473:exon3:c.C30T:p.F10F,ENSG00000175197:ENST00000547303:exon3:c.C30T:p.F10F,ENSG00000175197:ENST00000547526:exon3:c.C99T:p.F33F,ENSG00000175197:ENST00000551116:exon3:c.C99T:p.F33F Score=643;Name=lod=545 NA 12q13.3 NA Name=Pol2(phosphoS2),Pol2,Pol2(b) Name=103 NA rs697221 0.21 0.21 0.199 0.201478 0.175 0.245 0.1398 0.2421 0.1728 0.18 0.25 0.14 0.26 0.1669 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951896 NA NA 0.143372 0.221289 NA 0.203 NA 8.1813946 834 14 21360216 21360216 C G exonic RNASE3 NA nonsynonymous SNV RNASE3:NM_002935:exon2:c.C371G:p.T124R exonic ENSG00000169397 NA nonsynonymous SNV ENSG00000169397:ENST00000304639:exon2:c.C371G:p.T124R NA NA 14q11.2 NA NA NA NA rs2073342 0.66 0.66 0.621 0.640575 0.7197 0.7361 0.8199 0.3722 0.6963 0.72 0.73 0.8 0.39 0.7148 0.8 1 T 0.0 B 0.001 B 0.190 N 1.000 P -2.405 N -0.52 T -0.948 T 0.000 T 0.054 -2.646 0 -3.36 -1.709 -3.009 1.307 -2.645508 NA 1 0.717442 0.442211 NA 0.681 NA 8.1813914 834 19 15587185 15587185 C T exonic PGLYRP2 NA nonsynonymous SNV PGLYRP2:NM_052890:exon2:c.G296A:p.R99Q exonic ENSG00000161031 NA nonsynonymous SNV ENSG00000161031:ENST00000292609:exon2:c.G296A:p.R99Q,ENSG00000161031:ENST00000340880:exon2:c.G296A:p.R99Q,ENSG00000161031:ENST00000594637:exon3:c.G296A:p.R99Q,ENSG00000161031:ENST00000601792:exon4:c.G296A:p.R99Q NA NA 19p13.12 NA NA NA NA rs733731 0.36 0.36 0.372 0.351238 0.4056 0.3631 0.3401 0.3457 0.2986 0.4 0.37 0.31 0.33 0.3614 0.4 0.71 T 0.03 B 0.005 B 0.898 N 1.000 P 0 N 3.6 T -0.915 T 0.000 T 0.019 -0.203 3.013 -5.85 -1.182 -0.461 14.063 -0.203499 NA 0.65 0.385581 0.344076 ID=COSM438799,COSM438798;OCCURENCE=1(breast),1(large_intestine) 0.464 NA 8.1807524 834 19 17113147 17113147 A G exonic CPAMD8 NA synonymous SNV CPAMD8:NM_015692:exon9:c.T828C:p.F276F exonic ENSG00000160111 NA synonymous SNV ENSG00000160111:ENST00000291440:exon9:c.T828C:p.F276F,ENSG00000160111:ENST00000388925:exon9:c.T687C:p.F229F,ENSG00000160111:ENST00000443236:exon9:c.T828C:p.F276F Score=472;Name=lod=110 NA 19p13.11 NA NA NA NA rs3745345 0.18 0.18 0.188 0.185503 0.1471 0.121 0.0994 0.379 0.091 0.14 0.11 0.09 0.39 0.199 0.39 . . . . . . . . 0.000 P . . . . -0.937 T 0.000 T . -0.565 1.453 1.39 -0.386 2.475 8.320 -0.564591 NA NA 0.141473 0.316426 NA 0.181 NA 8.1790936 834 4 38798648 38798648 C A exonic TLR1 NA nonsynonymous SNV TLR1:NM_003263:exon4:c.G1805T:p.S602I exonic ENSG00000174125 NA nonsynonymous SNV ENSG00000174125:ENST00000502213:exon3:c.G1805T:p.S602I,ENSG00000174125:ENST00000308979:exon4:c.G1805T:p.S602I NA NA 4p14 NA NA NA NA rs5743618 0.67 0.67 0.647 0.800519 0.327 0.994 0.7161 0.9644 0.9264 0.25 0.99 0.65 0.95 0.5389 0.99 1 T 0.0 B 0.0 B 0.224 N 1.000 P -2.215 N 4.65 T -0.981 T 0.000 T 0.052 -1.58 0.014 2.76 0.431 0.626 8.482 -1.580406 NA 1 0.288372 0.850136 NA 0.674 CLINSIG=other;CLNDBN=Leprosy\x2c_protection_against;CLNREVSTAT=single;CLNACC=RCV000008865.3;CLNDSDB=MedGen;CLNDSDBID=C2750734 8.1790614 834 19 44352666 44352666 G A exonic ZNF283 NA nonsynonymous SNV ZNF283:NM_181845:exon7:c.G1913A:p.C638Y exonic ENSG00000167637 NA nonsynonymous SNV ENSG00000167637:ENST00000588797:exon6:c.G1496A:p.C499Y,ENSG00000167637:ENST00000324461:exon7:c.G1913A:p.C638Y NA NA 19q13.31 NA NA NA NA rs1061769 0.27 0.27 0.329 0.38738 0.3976 0.2401 0.2478 0.4493 0.544 0.31 0.19 0.27 0.31 0.4017 0.39 1 T 0.0 B 0.0 B . . 1.000 P 0.47 N 3.24 T -0.931 T 0.000 T 0.012 -2.175 0.005 -3.01 -1.487 0.923 12.052 -2.174593 NA 1 0.355471 0.38864 NA NA NA 8.1785624 834 12 998365 998365 G T exonic WNK1 NA nonsynonymous SNV WNK1:NM_014823:exon19:c.G4683T:p.M1561I,WNK1:NM_001184985:exon21:c.G6204T:p.M2068I,WNK1:NM_018979:exon21:c.G5424T:p.M1808I,WNK1:NM_213655:exon21:c.G6180T:p.M2060I exonic ENSG00000060237 NA nonsynonymous SNV ENSG00000060237:ENST00000340908:exon18:c.G4203T:p.M1401I,ENSG00000060237:ENST00000535572:exon19:c.G4683T:p.M1561I,ENSG00000060237:ENST00000315939:exon21:c.G5424T:p.M1808I,ENSG00000060237:ENST00000537687:exon21:c.G6204T:p.M2068I,ENSG00000060237:ENST00000530271:exon23:c.G6918T:p.M2306I Score=608;Name=lod=396 NA 12p13.33 NA NA NA NA rs12828016 0.39 0.39 0.422 0.417532 0.3877 0.2808 0.3213 0.5522 0.4755 0.38 0.29 0.35 0.53 0.3766 0.53 0.44 T 0.0 B 0.0 B 0.005 N 0.000 P 0 N 1.71 T -0.925 T 0.000 T 0.035 1.272 10.15 2.16 0.183 -0.071 2.550 1.272499 1.272499 0.19 0.391047 0.510213 NA 0.5 NA 8.1779864 834 3 191100561 191100561 C A exonic CCDC50 NA synonymous SNV CCDC50:NM_174908:exon9:c.C741A:p.S247S,CCDC50:NM_178335:exon10:c.C1269A:p.S423S exonic ENSG00000152492 NA synonymous SNV ENSG00000152492:ENST00000392455:exon9:c.C741A:p.S247S,ENSG00000152492:ENST00000392456:exon10:c.C1269A:p.S423S Score=355;Name=lod=37 NA 3q28 NA Name=PU.1 Name=5 NA rs364519 0.63 0.63 0.642 0.644968 0.495 0.6865 0.5778 0.8548 0.5204 0.5 0.65 0.57 0.84 0.5337 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.931275 NA NA 0.460814 0.790059 NA 0.522 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041441.1;CLNDSDB=.;CLNDSDBID=. 8.1771526 834 2 202245423 202245423 A T exonic TRAK2 NA nonsynonymous SNV TRAK2:NM_015049:exon16:c.T2588A:p.I863N exonic ENSG00000115993 NA nonsynonymous SNV ENSG00000115993:ENST00000332624:exon16:c.T2588A:p.I863N NA NA 2q33.1 NA NA NA NA rs34594680 0.05 0.05 0.052 0.052516 0.0527 0.001 0.0562 0.1233 0.0072 0.06 0.0017 0.05 0.11 0.0472 0.11 0.54 T 0.0 B 0.0 B 0.345 N 1.000 N 0 N 3.24 T -1.037 T 0.001 T 0.021 -0.5 1.705 -2.31 -0.627 0.062 4.781 -0.500469 NA 0.04 0.057442 0.102133 NA 0.051 NA 8.1759914 834 9 131702891 131702891 A G exonic PHYHD1 NA nonsynonymous SNV PHYHD1:NM_174933:exon10:c.A578G:p.E193G exonic ENSG00000175287 NA nonsynonymous SNV ENSG00000175287:ENST00000308941:exon10:c.A578G:p.E193G Score=346;Name=lod=34 NA 9q34.11 Score=742;Name=V$TCF11MAFG_01 NA NA NA rs2273866 0.36 0.36 0.348 0.351438 0.4095 0.2381 0.4251 0.3555 0.3507 0.41 0.23 0.41 0.4 0.3706 0.43 0.4 T 0.001 B 0.003 B 0.063 N 0.000 P . . . . -0.963 T 0.000 T 0.408 2.474 14.23 -1.45 -0.043 -0.020 8.232 2.473911 2.473911 0 0.377558 0.353609 ID=COSM150725;OCCURENCE=1(stomach) 0.464 NA 8.1756754 835 16 24834233 24834233 C T exonic TNRC6A NA synonymous SNV TNRC6A:NM_014494:exon24:c.C5412T:p.H1804H exonic ENSG00000090905 NA synonymous SNV ENSG00000090905:ENST00000569098:exon4:c.C354T:p.H118H,ENSG00000090905:ENST00000432286:exon7:c.C846T:p.H282H,ENSG00000090905:ENST00000450465:exon17:c.C2244T:p.H748H,ENSG00000090905:ENST00000315183:exon23:c.C5265T:p.H1755H,ENSG00000090905:ENST00000395799:exon24:c.C5412T:p.H1804H Score=697;Name=lod=909 NA 16p12.1 NA NA NA Score=100;Name=890221_0_+_100 rs2303085 0.23 0.23 0.207 0.220847 0.166 0.4038 0.2637 0.1626 0.137 0.18 0.4 0.22 0.13 0.1896 0.4 . . . . . . . . 0.000 P . . . . -0.930 T 0.000 T . 1.074 9.384 1.87 0.338 0.189 7.386 1.073739 NA NA 0.136628 0.157487 ID=COSM148053;OCCURENCE=1(stomach) 0.167 NA 8.1744386 835 15 48797307 48797307 A G exonic FBN1 NA synonymous SNV FBN1:NM_000138:exon16:c.T1875C:p.N625N exonic ENSG00000166147 NA synonymous SNV ENSG00000166147:ENST00000316623:exon16:c.T1875C:p.N625N Score=505;Name=lod=150 NA 15q21.1 Score=820;Name=V$OCT1_04 NA NA NA rs25458 0.29 0.29 0.296 0.296925 0.1501 0.3522 0.2046 0.5106 0.1677 0.14 0.38 0.17 0.51 0.2006 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026375 NA NA 0.141993 0.444697 NA 0.254 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000035131.1|RCV000124994.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.1739736 835 13 100888122 100888122 A G exonic PCCA NA synonymous SNV PCCA:NM_001127692:exon7:c.A549G:p.A183A,PCCA:NM_000282:exon8:c.A627G:p.A209A,PCCA:NM_001178004:exon8:c.A627G:p.A209A exonic ENSG00000175198 NA synonymous SNV ENSG00000175198:ENST00000376286:exon7:c.A549G:p.A183A,ENSG00000175198:ENST00000376279:exon8:c.A627G:p.A209A,ENSG00000175198:ENST00000376285:exon8:c.A627G:p.A209A Score=788;Name=lod=2134 NA 13q32.3 NA Name=PU.1,CEBPB,p300,EBF,c-Myc Name=58 NA rs538229 0.11 0.11 0.106 0.103035 0.174 0.0159 0.1455 0.0885 0.1094 0.17 0.01 0.15 0.11 0.1475 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716658 NA NA 0.17186 0.111893 NA 0.159 NA 8.1733066 835 14 90745422 90745422 T C exonic NRDE2 NA nonsynonymous SNV NRDE2:NM_017970:exon13:c.A3353G:p.N1118S exonic ENSG00000119720 NA nonsynonymous SNV ENSG00000119720:ENST00000357904:exon11:c.A2660G:p.N887S,ENSG00000119720:ENST00000354366:exon13:c.A3353G:p.N1118S NA NA 14q32.11 NA NA NA NA rs3737035 0.35 0.35 0.33 0.324281 0.3946 0.5099 0.3012 0.0825 0.4039 0.41 0.51 0.33 0.09 0.3693 0.51 0.81 T 0.004 B 0.004 B 0.009 N 1.000 P -0.125 N 1.84 T -0.964 T 0.000 T 0.009 -1.577 0.014 -3.03 -0.493 1.427 6.781 -1.577019 NA 0.68 0.39907 0.144349 NA 0.304 NA 8.1703634 835 6 136599836 136599836 G A exonic BCLAF1 NA synonymous SNV BCLAF1:NM_001077440:exon4:c.C177T:p.Y59Y,BCLAF1:NM_001077441:exon4:c.C183T:p.Y61Y,BCLAF1:NM_014739:exon4:c.C183T:p.Y61Y exonic ENSG00000029363 NA synonymous SNV ENSG00000029363:ENST00000392348:exon2:c.C177T:p.Y59Y,ENSG00000029363:ENST00000353331:exon4:c.C177T:p.Y59Y,ENSG00000029363:ENST00000527536:exon4:c.C183T:p.Y61Y,ENSG00000029363:ENST00000527613:exon4:c.C183T:p.Y61Y,ENSG00000029363:ENST00000527759:exon4:c.C177T:p.Y59Y,ENSG00000029363:ENST00000529826:exon4:c.C183T:p.Y61Y,ENSG00000029363:ENST00000530429:exon4:c.C177T:p.Y59Y,ENSG00000029363:ENST00000530767:exon4:c.C183T:p.Y61Y,ENSG00000029363:ENST00000531224:exon4:c.C183T:p.Y61Y,ENSG00000029363:ENST00000532384:exon4:c.C183T:p.Y61Y,ENSG00000029363:ENST00000534269:exon4:c.C177T:p.Y59Y Score=741;Name=lod=1365 NA 6q23.3 Score=705;Name=V$HOX13_01 NA Name=2 NA rs9942518 0.49 0.49 0.43 NA NA NA NA NA NA 0.5 0.5 0.5 0.48 0.4978 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459641 NA NA NA NA NA 0.449 NA 8.1688666 835 18 5956238 5956238 C T exonic L3MBTL4 NA nonsynonymous SNV L3MBTL4:NM_173464:exon20:c.G1853A:p.G618D exonic ENSG00000154655 NA nonsynonymous SNV ENSG00000154655:ENST00000535782:exon12:c.G1265A:p.G422D,ENSG00000154655:ENST00000317931:exon19:c.G1826A:p.G609D,ENSG00000154655:ENST00000284898:exon20:c.G1853A:p.G618D,ENSG00000154655:ENST00000400105:exon20:c.G1853A:p.G618D NA NA 18p11.31 NA NA Name=12 NA rs3737353 0.38 0.38 0.359 0.384784 0.3976 0.4742 0.2723 0.2927 0.4836 0.41 0.47 0.28 0.3 0.3812 0.48 0.17 T 0.053 B 0.043 B 0.097 N 1.000 P 0.69 N 2.36 T -0.922 T 0.000 T 0.074 1.433 10.73 2.78 0.310 0.125 7.854 1.432921 1.432921 NA 0.385973 0.291318 ID=COSM1389481;OCCURENCE=1(large_intestine) 0.37 NA 8.1685604 835 6 136599842 136599842 G A exonic BCLAF1 NA synonymous SNV BCLAF1:NM_001077440:exon4:c.C171T:p.R57R,BCLAF1:NM_001077441:exon4:c.C177T:p.R59R,BCLAF1:NM_014739:exon4:c.C177T:p.R59R exonic ENSG00000029363 NA synonymous SNV ENSG00000029363:ENST00000392348:exon2:c.C171T:p.R57R,ENSG00000029363:ENST00000353331:exon4:c.C171T:p.R57R,ENSG00000029363:ENST00000527536:exon4:c.C177T:p.R59R,ENSG00000029363:ENST00000527613:exon4:c.C177T:p.R59R,ENSG00000029363:ENST00000527759:exon4:c.C171T:p.R57R,ENSG00000029363:ENST00000529826:exon4:c.C177T:p.R59R,ENSG00000029363:ENST00000530429:exon4:c.C171T:p.R57R,ENSG00000029363:ENST00000530767:exon4:c.C177T:p.R59R,ENSG00000029363:ENST00000531224:exon4:c.C177T:p.R59R,ENSG00000029363:ENST00000532384:exon4:c.C177T:p.R59R,ENSG00000029363:ENST00000534269:exon4:c.C171T:p.R57R Score=741;Name=lod=1365 NA 6q23.3 Score=705;Name=V$HOX13_01 NA Name=2 NA rs9942519 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.49 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300876 NA NA NA NA NA 0.5 NA 8.1667666 835 1 144882581 144882581 A G exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001198834:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_014644:exon24:c.T3438C:p.I1146I exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000369354:exon24:c.T3438C:p.I1146I,ENSG00000178104:ENST00000369356:exon24:c.T3438C:p.I1146I,ENSG00000178104:ENST00000369359:exon27:c.T3849C:p.I1283I,ENSG00000178104:ENST00000530740:exon27:c.T3849C:p.I1283I NA NA 1q21.1 NA NA NA NA rs1699836 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 . . . . . . . . 1.000 N . . . . . . . . . 0.775 8.095 -11.6 -2.229 -4.503 7.706 0.77547 NA NA NA NA NA 0.5 NA 8.1666666 835 1 144917546 144917546 A G exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001002811:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001002812:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198834:exon12:c.T1558C:p.L520L,PDE4DIP:NM_014644:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198832:exon15:c.T1756C:p.L586L exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000313431:exon8:c.T2047C:p.L683L,ENSG00000178104:ENST00000479408:exon8:c.T919C:p.L307L,ENSG00000178104:ENST00000529945:exon8:c.T2047C:p.L683L,ENSG00000178104:ENST00000369349:exon12:c.T1558C:p.L520L,ENSG00000178104:ENST00000369351:exon12:c.T1558C:p.L520L,ENSG00000178104:ENST00000369354:exon12:c.T1558C:p.L520L,ENSG00000178104:ENST00000369356:exon12:c.T1558C:p.L520L,ENSG00000178104:ENST00000313382:exon15:c.T1756C:p.L586L,ENSG00000178104:ENST00000369359:exon15:c.T1969C:p.L657L,ENSG00000178104:ENST00000530740:exon15:c.T1969C:p.L657L Score=474;Name=lod=113 NA 1q21.1 Score=763;Name=V$TCF11MAFG_01 Name=BRF2 NA NA rs1698682 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.524904 1.524904 NA NA NA NA 0.5 NA 8.1666666 835 1 1647814 1647814 T C exonic CDK11A,CDK11B NA synonymous SNV CDK11A:NM_024011:exon5:c.A459G:p.E153E,CDK11B:NM_033486:exon5:c.A459G:p.E153E,CDK11B:NM_033492:exon5:c.A426G:p.E142E,CDK11B:NM_033493:exon5:c.A426G:p.E142E,CDK11A:NM_033529:exon5:c.A429G:p.E143E,CDK11B:NM_033488:exon6:c.A324G:p.E108E,CDK11B:NM_033489:exon6:c.A357G:p.E119E exonic ENSG00000008128 NA synonymous SNV ENSG00000008128:ENST00000356200:exon4:c.A357G:p.E119E,ENSG00000008128:ENST00000509982:exon4:c.A459G:p.E153E,ENSG00000008128:ENST00000357760:exon5:c.A429G:p.E143E,ENSG00000008128:ENST00000358779:exon5:c.A429G:p.E143E,ENSG00000008128:ENST00000378633:exon5:c.A429G:p.E143E,ENSG00000008128:ENST00000378635:exon5:c.A429G:p.E143E,ENSG00000008128:ENST00000378638:exon5:c.A357G:p.E119E,ENSG00000008128:ENST00000404249:exon5:c.A459G:p.E153E,ENSG00000008128:ENST00000460465:exon5:c.A459G:p.E153E,ENSG00000008128:ENST00000479362:exon5:c.A429G:p.E143E Score=477;Name=lod=116 NA 1p36.33 NA NA NA NA rs72901775 0.5 0.5 0.43 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5011 0.5 0.02 D . . . . . . 0.000 P . . . . -0.896 T 0.000 T . -0.407 2.096 0.358 -0.064 0.108 12.498 -0.40715 NA NA NA NA NA 0.058 NA 8.1655666 836 7 154862652 154862652 C T exonic HTR5A NA nonsynonymous SNV HTR5A:NM_024012:exon1:c.C43T:p.P15S exonic ENSG00000157219 NA nonsynonymous SNV ENSG00000157219:ENST00000287907:exon1:c.C43T:p.P15S NA NA 7q36.2 NA NA NA NA rs11575874 0.03 0.03 0.023 0.0269569 0.0676 NA 0.0432 0.0136 0.0194 0.06 NA 0.06 0.02 0.0434 0.06 0.56 T 0.0 B 0.0 B 0.034 N 1.000 N 0 N 1.22 T -1.030 T 0.004 T 0.045 -0.367 2.27 0.195 -0.169 1.014 5.271 -0.367277 NA 0.11 0.058256 0.015207 NA 0.022 NA 8.1640774 836 15 89402051 89402051 A G exonic ACAN NA nonsynonymous SNV ACAN:NM_001135:exon12:c.A6235G:p.I2079V,ACAN:NM_013227:exon12:c.A6235G:p.I2079V exonic ENSG00000157766 NA nonsynonymous SNV ENSG00000157766:ENST00000561243:exon11:c.A6235G:p.I2079V,ENSG00000157766:ENST00000352105:exon12:c.A6235G:p.I2079V,ENSG00000157766:ENST00000439576:exon12:c.A6235G:p.I2079V,ENSG00000157766:ENST00000559004:exon12:c.A6235G:p.I2079V NA NA 15q26.1 NA NA NA NA rs1042630 0.66 0.66 0.672 0.645966 0.7386 0.5605 0.6182 0.6808 0.6115 0.76 0.54 0.64 0.68 0.6819 0.76 0.54 T 0.023 B 0.026 B 0.050 N 1.000 P 0.65 N 4.65 T -0.962 T 0.000 T 0.033 -2.961 0.001 -9.69 -1.308 -1.811 1.995 -2.960603 NA 1 0.74915 0.704028 ID=COSM146363;OCCURENCE=1(stomach) 0.652 NA 8.1636834 836 1 26612460 26612460 G A exonic UBXN11 NA synonymous SNV UBXN11:NM_001077262:exon5:c.C268T:p.L90L,UBXN11:NM_145345:exon9:c.C529T:p.L177L,UBXN11:NM_183008:exon10:c.C628T:p.L210L exonic ENSG00000158062 NA synonymous SNV ENSG00000158062:ENST00000535108:exon3:c.C154T:p.L52L,ENSG00000158062:ENST00000314675:exon5:c.C268T:p.L90L,ENSG00000158062:ENST00000436301:exon7:c.C403T:p.L135L,ENSG00000158062:ENST00000442942:exon7:c.C529T:p.L177L,ENSG00000158062:ENST00000357089:exon8:c.C529T:p.L177L,ENSG00000158062:ENST00000452980:exon8:c.C529T:p.L177L,ENSG00000158062:ENST00000374215:exon9:c.C514T:p.L172L,ENSG00000158062:ENST00000374217:exon9:c.C529T:p.L177L,ENSG00000158062:ENST00000374221:exon10:c.C628T:p.L210L,ENSG00000158062:ENST00000374222:exon10:c.C628T:p.L210L Score=385;Name=lod=49 NA 1p36.11 NA Name=CTCF_(SC-5916),YY1_(C-20),Sin3Ak-20,CTCF,TCF12,EBF1_(C-8),Rad21,CTCF_(C-20) Name=53 NA rs11247900 0.13 0.13 0.122 0.128994 0.1909 0.0228 0.1066 0.202 0.092 0.21 0.02 0.11 0.16 0.148 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.435976 1.435976 NA 0.164578 0.151228 NA 0.094 NA 8.1631886 836 4 38776107 38776107 T G exonic TLR10 NA nonsynonymous SNV TLR10:NM_001017388:exon2:c.A1105C:p.I369L,TLR10:NM_001195106:exon3:c.A1105C:p.I369L,TLR10:NM_001195107:exon3:c.A1105C:p.I369L,TLR10:NM_001195108:exon3:c.A1063C:p.I355L,TLR10:NM_030956:exon4:c.A1105C:p.I369L exonic ENSG00000174123 NA nonsynonymous SNV ENSG00000174123:ENST00000361424:exon2:c.A1105C:p.I369L,ENSG00000174123:ENST00000506111:exon2:c.A1105C:p.I369L,ENSG00000174123:ENST00000508334:exon2:c.A1105C:p.I369L,ENSG00000174123:ENST00000308973:exon4:c.A1105C:p.I369L NA NA 4p14 NA NA Name=29 NA rs11096955 0.48 0.48 0.49 0.499601 0.3976 0.5546 0.4179 0.5469 0.5419 0.37 0.62 0.41 0.55 0.4295 0.66 0.33 T 0.0 B 0.002 B 0.731 N 1.000 P 1.39 L 1.91 T -0.947 T 0.000 T 0.058 0.114 4.611 1.24 0.778 -0.986 1.334 0.113581 NA 0.31 0.34314 0.506582 ID=COSM1429555;OCCURENCE=1(large_intestine) 0.594 NA 8.1630934 836 1 223285833 223285833 G T exonic TLR5 NA nonsynonymous SNV TLR5:NM_003268:exon6:c.C541A:p.Q181K exonic ENSG00000187554 NA nonsynonymous SNV ENSG00000187554:ENST00000342210:exon4:c.C541A:p.Q181K,ENSG00000187554:ENST00000540964:exon4:c.C541A:p.Q181K,ENSG00000187554:ENST00000366881:exon6:c.C541A:p.Q181K NA NA 1q41 NA NA NA NA rs45528236 0.04 0.04 0.036 0.0503195 0.0606 0.0387 0.0303 0.0227 0.1033 0.06 0.03 0.04 0.03 0.0556 0.06 1 T 0.0 B 0.0 B 0.528 N 1.000 N 0.755 N 0.51 T -1.070 T 0.012 T 0.017 -0.891 0.457 2.01 0.204 -0.289 10.089 -0.891182 NA 0.66 0.054419 0.024058 NA 0.029 NA 8.1627144 836 15 63548787 63548787 G A exonic RAB8B NA synonymous SNV RAB8B:NM_016530:exon5:c.G408A:p.G136G exonic ENSG00000166128 NA synonymous SNV ENSG00000166128:ENST00000321437:exon5:c.G408A:p.G136G,ENSG00000166128:ENST00000448330:exon5:c.G408A:p.G136G,ENSG00000166128:ENST00000559006:exon5:c.G408A:p.G136G NA NA 15q22.2 Score=748;Name=V$EVI1_01 Name=CEBPB,POU5F1_(SC-9081) Name=117 NA rs10851726 0.23 0.23 0.219 0.274561 0.1521 0.4663 0.2089 0.1452 0.4243 0.15 0.47 0.18 0.13 0.2132 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69596 NA NA 0.139535 0.13754 NA 0.196 NA 8.1618316 836 11 4567335 4567335 C G exonic OR52M1 NA nonsynonymous SNV OR52M1:NM_001004137:exon1:c.C915G:p.S305R exonic ENSG00000197790 NA nonsynonymous SNV ENSG00000197790:ENST00000360213:exon1:c.C915G:p.S305R NA NA 11p15.4 NA NA NA NA rs2657167 0.39 0.39 0.418 0.425519 0.3827 0.3046 0.268 0.584 0.4918 0.35 0.34 0.3 0.58 0.3922 0.58 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.39 N 1.25 T -1.021 T 0.000 T 0.116 -2.71 0 -2.88 -1.036 -0.773 2.375 -2.710022 NA 1 0.39751 0.535666 ID=COSM147108;OCCURENCE=1(stomach) 0.29 NA 8.1609234 836 19 10403368 10403368 G A exonic ICAM5 NA nonsynonymous SNV ICAM5:NM_003259:exon5:c.G1042A:p.A348T exonic ENSG00000105376 NA nonsynonymous SNV ENSG00000105376:ENST00000221980:exon5:c.G1042A:p.A348T NA NA 19p13.2 NA Name=Pol2(b),E2F6_(H-50) NA NA rs2228615 0.29 0.29 0.263 0.289337 0.4066 0.2371 0.5202 0.0439 0.3906 0.41 0.25 0.48 0.02 0.3769 0.48 0.09 T 0.002 B 0.004 B 0.184 N 1.000 P 1.74 L 2.66 T -0.939 T 0.000 T 0.023 2.082 12.92 -0.808 0.041 -1.124 5.079 2.082357 2.082357 0.18 0.38907 0.099183 NA 0.297 NA 8.1607634 836 7 91630620 91630620 G T exonic AKAP9 NA nonsynonymous SNV AKAP9:NM_005751:exon8:c.G1389T:p.M463I,AKAP9:NM_147185:exon8:c.G1389T:p.M463I exonic ENSG00000127914 NA nonsynonymous SNV ENSG00000127914:ENST00000356239:exon8:c.G1389T:p.M463I,ENSG00000127914:ENST00000358100:exon9:c.G1425T:p.M475I,ENSG00000127914:ENST00000359028:exon9:c.G1425T:p.M475I NA NA 7q21.2 Score=814;Name=V$GFI1_01 NA NA NA rs6964587 0.36 0.36 0.359 0.372204 0.3867 0.1617 0.3573 0.5023 0.409 0.39 0.17 0.38 0.52 0.3829 0.52 0.2 T 0.002 B 0.003 B 0.166 N 0.013 P 0 N 3.93 T -0.965 T 0.000 T 0.044 -1.457 0.019 -3.46 -0.686 0.234 13.89 -1.456513 NA 0.14 0.403023 0.51363 NA 0.406 NA 8.1607104 836 5 79034662 79034662 C G exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.C10074G:p.H3358Q exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.C10074G:p.H3358Q NA NA 5q14.1 NA NA NA NA rs3828611 0.21 0.21 0.239 NA NA NA NA NA NA 0.06 0.41 0.04 0.33 0.1075 0.41 1 T 0.0 B 0.0 B 0.017 N 1.000 P -2.125 N 1.99 T -0.926 T 0.000 T 0.027 -3.265 0.001 2.2 0.154 0.422 5.808 -3.264746 NA 1 0.065805 0.225471 NA 0.21 NA 8.1600284 836 8 98703317 98703317 A G exonic MTDH NA nonsynonymous SNV MTDH:NM_178812:exon6:c.A949G:p.T317A exonic ENSG00000147649 NA nonsynonymous SNV ENSG00000147649:ENST00000336273:exon6:c.A949G:p.T317A,ENSG00000147649:ENST00000519934:exon6:c.A880G:p.T294A Score=654;Name=lod=606 NA 8q22.1 NA NA NA NA rs17854374 0.03 0.03 0.02 0.0253594 0.0616 NA 0.0303 0.0008 0.044 0.06 NA 0.04 NA 0.0515 0.061 0.27 T 0.0 B 0.001 B 0.948 N 0.834 N 0.345 N 0.97 T -1.050 T 0.008 T 0.16 1.667 11.53 0.932 -0.054 0.084 8.582 1.666828 1.666828 0.31 0.061512 0.014072 NA 0.072 NA 8.1587214 836 19 57839567 57839567 T A exonic ZNF543 NA nonsynonymous SNV ZNF543:NM_213598:exon4:c.T737A:p.L246H exonic ENSG00000178229 NA nonsynonymous SNV ENSG00000178229:ENST00000321545:exon4:c.T737A:p.L246H NA NA 19q13.43 NA Name=SETDB1 NA NA rs1968090 0.69 0.69 0.678 0.681709 0.7197 0.5843 0.7133 0.7716 0.5992 0.73 0.59 0.72 0.72 0.7102 0.75 0.26 T 0.0 B 0.0 B . . 1.000 P 2.225 M 1.96 T -1.042 T 0.000 T 0.085 -1.166 0.092 2.33 0.328 -0.576 7.18 -1.165669 NA 0.86 0.745814 0.747844 NA 0.667 NA 8.1576194 836 19 57839150 57839150 A G exonic ZNF543 NA nonsynonymous SNV ZNF543:NM_213598:exon4:c.A320G:p.Q107R exonic ENSG00000178229 NA nonsynonymous SNV ENSG00000178229:ENST00000321545:exon4:c.A320G:p.Q107R NA NA 19q13.43 NA NA NA NA rs8100491 0.69 0.69 0.652 0.682508 0.7197 0.5863 0.7133 0.7731 0.5992 0.73 0.59 0.72 0.72 0.7104 0.75 1 T 0.001 B 0.001 B . . 1.000 P 1.04 L 1.89 T -0.944 T 0.000 T 0.005 -0.856 0.536 -5.73 -1.610 -2.431 6.090 -0.855603 NA 0.74 0.745814 0.747844 ID=COSM1180667;OCCURENCE=1(upper_aerodigestive_tract) 0.659 NA 8.1574194 836 13 53217270 53217270 A G exonic HNRNPA1L2 NA nonsynonymous SNV HNRNPA1L2:NM_001011725:exon6:c.A643G:p.N215D,HNRNPA1L2:NM_001011724:exon7:c.A643G:p.N215D exonic ENSG00000139675 NA nonsynonymous SNV ENSG00000139675:ENST00000357495:exon1:c.A643G:p.N215D,ENSG00000139675:ENST00000398039:exon6:c.A643G:p.N215D,ENSG00000139675:ENST00000342657:exon7:c.A643G:p.N215D NA NA 13q14.3 NA NA NA NA rs9536212 0.3 0.3 0.246 0.271166 0.4384 0.2093 0.3703 0.1437 0.2648 0.42 0.2 0.37 0.17 0.3603 0.42 0.11 T 0.115 B 0.012 B . . 1.000 P 2.425 M -2.16 D -1.054 T 0.000 T 0.027 1.433 10.73 0.352 0.382 0.715 5.098 1.433411 1.433411 0.08 0.378104 0.180717 NA 0.043 NA 8.1565294 836 7 128038555 128038555 C G exonic IMPDH1 NA synonymous SNV IMPDH1:NM_001142575:exon6:c.G657C:p.L219L,IMPDH1:NM_001142573:exon7:c.G732C:p.L244L,IMPDH1:NM_001142574:exon7:c.G717C:p.L239L,IMPDH1:NM_183243:exon8:c.G879C:p.L293L,IMPDH1:NM_001102605:exon9:c.G957C:p.L319L,IMPDH1:NM_001142576:exon9:c.G888C:p.L296L,IMPDH1:NM_000883:exon10:c.G987C:p.L329L exonic ENSG00000106348 NA synonymous SNV ENSG00000106348:ENST00000496200:exon6:c.G657C:p.L219L,ENSG00000106348:ENST00000343214:exon7:c.G657C:p.L219L,ENSG00000106348:ENST00000378717:exon7:c.G780C:p.L260L,ENSG00000106348:ENST00000470772:exon7:c.G729C:p.L243L,ENSG00000106348:ENST00000480861:exon7:c.G717C:p.L239L,ENSG00000106348:ENST00000497868:exon7:c.G780C:p.L260L,ENSG00000106348:ENST00000348127:exon8:c.G879C:p.L293L,ENSG00000106348:ENST00000354269:exon9:c.G957C:p.L319L,ENSG00000106348:ENST00000419067:exon9:c.G888C:p.L296L,ENSG00000106348:ENST00000338791:exon10:c.G987C:p.L329L Score=643;Name=lod=545 NA 7q32.1 Score=886;Name=V$E47_02 Name=CTCF NA NA rs2288550 0.13 0.13 0.132 0.130192 0.1789 0.121 0.1023 0.0537 0.2127 0.18 0.12 0.09 0.06 0.1609 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922843 NA NA 0.170814 0.076487 NA 0.08 NA 8.1560526 836 12 18435452 18435452 C T exonic PIK3C2G NA nonsynonymous SNV PIK3C2G:NM_004570:exon2:c.C437T:p.P146L exonic ENSG00000139144 NA nonsynonymous SNV ENSG00000139144:ENST00000266497:exon1:c.C437T:p.P146L,ENSG00000139144:ENST00000538779:exon1:c.C437T:p.P146L,ENSG00000139144:ENST00000546003:exon1:c.C437T:p.P146L,ENSG00000139144:ENST00000433979:exon2:c.C437T:p.P146L,ENSG00000139144:ENST00000535651:exon2:c.C437T:p.P146L NA NA 12p12.3 NA NA NA NA rs11044004 0.34 0.34 0.325 0.353235 0.3917 0.3046 0.4078 0.3616 0.3139 0.4 0.27 0.36 0.33 0.3865 0.4 0.38 T 0.003 B 0.009 B 0.000 N 1.000 P 0.55 N 1.22 T -1.054 T 0.000 T 0.079 1.474 10.87 3.9 1.634 0.398 9.175 1.474091 1.474091 1 0.399312 0.355764 NA 0.304 NA 8.1558214 836 20 47872377 47872377 C G exonic ZNFX1 NA nonsynonymous SNV ZNFX1:NM_021035:exon9:c.G2772C:p.Q924H exonic ENSG00000124201 NA nonsynonymous SNV ENSG00000124201:ENST00000371744:exon9:c.G2772C:p.Q924H,ENSG00000124201:ENST00000371752:exon9:c.G2772C:p.Q924H,ENSG00000124201:ENST00000371754:exon9:c.G2772C:p.Q924H,ENSG00000124201:ENST00000396105:exon9:c.G2772C:p.Q924H Score=510;Name=lod=157 NA 20q13.13 Score=959;Name=V$MYOD_Q6 NA NA NA rs238221 0.62 0.62 0.617 0.566893 0.7505 0.4563 0.6081 0.5333 0.5082 0.74 0.43 0.65 0.61 0.6729 0.75 0.18 T 0.0 B 0.004 B 0.003 N 0.717 P 0.835 L 1.96 T -0.942 T 0.000 T 0.507 2.268 13.54 2.34 0.791 -0.033 4.986 2.268106 2.268106 0.14 0.754651 0.561734 NA 0.609 NA 8.1552824 837 1 220970028 220970028 A G exonic MARC1 NA nonsynonymous SNV MARC1:NM_022746:exon3:c.A493G:p.T165A exonic ENSG00000186205 NA nonsynonymous SNV ENSG00000186205:ENST00000366910:exon3:c.A493G:p.T165A NA NA 1q41 NA Name=CTCF NA NA rs2642438 0.81 0.81 0.809 0.809505 0.7217 0.7679 0.7767 0.9508 0.7751 0.75 0.81 0.77 0.93 0.7542 0.93 1 T 0.0 B 0.001 B 0.001 N 1.000 P -1.99 N 1.97 T -0.972 T 0.000 T 0.344 -1.699 0.011 3.91 0.466 3.901 10.917 -1.699379 NA 1 0.703256 0.919882 NA 0.768 NA 8.1541774 837 13 98896776 98896776 C T exonic FARP1 NA nonsynonymous SNV FARP1:NM_001001715:exon3:c.C203T:p.T68I exonic ENSG00000152767 NA nonsynonymous SNV ENSG00000152767:ENST00000376581:exon3:c.C203T:p.T68I NA NA 13q32.2 NA NA Name=2 NA rs7318267 0.4 0.4 0.378 0.376997 0.3787 0.6171 0.3804 0.1891 0.3793 0.39 0.63 0.36 0.19 0.4052 0.63 0 D 0.001 B 0.001 B . . 1.000 P 0 N 0.65 T -0.947 T 0.000 T 0.012 1.16 9.722 -0.857 -0.241 0.015 0.567 1.160042 NA 0 0.395465 0.225601 NA 0.471 NA 8.1539684 837 6 31322911 31322911 C T exonic HLA-B NA nonsynonymous SNV HLA-B:NM_005514:exon5:c.G985A:p.A329T exonic ENSG00000234745 NA nonsynonymous SNV ENSG00000234745:ENST00000412585:exon5:c.G985A:p.A329T NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 Name=2 NA rs1051488 0.47 0.47 0.433 0.536941 0.3827 0.5556 0.4971 0.6573 0.5419 0.35 0.52 0.49 0.58 0.4427 0.58 0.1 T 0.0 B 0.002 B . . 1.000 P . . 6.09 T -0.991 T 0.001 T 0.18 0.844 8.411 1.67 0.660 -0.118 8.138 0.844238 NA 0.12 0.355297 0.575116 ID=COSM328606;OCCURENCE=3(kidney) 0.514 NA 8.1526364 837 3 8955389 8955389 C T exonic RAD18 NA nonsynonymous SNV RAD18:NM_020165:exon8:c.G905A:p.R302Q exonic ENSG00000070950 NA nonsynonymous SNV ENSG00000070950:ENST00000264926:exon8:c.G905A:p.R302Q Score=541;Name=lod=211 NA 3p25.3 NA NA NA NA rs373572 0.63 0.63 0.652 0.647564 0.7624 0.3591 0.7118 0.6543 0.772 0.76 0.4 0.67 0.67 0.6951 0.76 0.76 T 0.001 B 0.0 B 0.000 N 1.000 P -1.995 N 1.85 T -0.988 T 0.000 T 0.02 0.558 7.019 4.47 0.849 2.422 7.022 0.558314 NA 0.79 0.72415 0.665531 NA 0.754 NA 8.1516834 837 19 19651140 19651140 A G exonic CILP2 NA synonymous SNV CILP2:NM_153221:exon3:c.A291G:p.E97E exonic ENSG00000160161 NA synonymous SNV ENSG00000160161:ENST00000291495:exon3:c.A291G:p.E97E,ENSG00000160161:ENST00000586018:exon3:c.A309G:p.E103E Score=657;Name=lod=626 NA 19p13.11 Score=868;Name=V$ELK1_01 Name=Max,E2F6_(H-50),E2F6,c-Myc,USF-1 NA NA rs4808970 0.12 0.12 0.104 0.118411 0.168 NA 0.1167 0.1626 0.1309 0.15 NA 0.14 0.22 0.2019 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.375565 1.375565 NA 0.146082 0.142657 ID=COSM439021;OCCURENCE=1(breast) 0.109 NA 8.1506846 837 19 17100552 17100552 A G exonic CPAMD8 NA synonymous SNV CPAMD8:NM_015692:exon13:c.T1437C:p.P479P exonic ENSG00000160111 NA synonymous SNV ENSG00000160111:ENST00000443236:exon13:c.T1437C:p.P479P NA NA 19p13.11 NA NA NA NA rs1973093 0.61 0.61 0.616 0.608427 0.5239 0.629 0.5043 0.8563 0.4131 0.5 0.61 0.53 0.85 0.5133 0.85 . . . . . . . . 0.002 P . . . . -1.031 T 0.000 T . -1.431 0.021 -5.73 -1.715 -1.443 3.567 -1.430601 NA NA 0.481414 0.788991 NA 0.536 NA 8.1480526 837 22 32875190 32875190 G A exonic FBXO7 NA nonsynonymous SNV FBXO7:NM_001033024:exon2:c.G108A:p.M36I,FBXO7:NM_001257990:exon2:c.G3A:p.M1I,FBXO7:NM_012179:exon2:c.G345A:p.M115I exonic ENSG00000100225 NA nonsynonymous SNV ENSG00000100225:ENST00000266087:exon2:c.G345A:p.M115I,ENSG00000100225:ENST00000382058:exon2:c.G108A:p.M36I,ENSG00000100225:ENST00000397426:exon2:c.G3A:p.M1I,ENSG00000100225:ENST00000444207:exon2:c.G3A:p.M1I,ENSG00000100225:ENST00000452138:exon2:c.G108A:p.M36I NA NA 22q12.3 NA NA Name=19 NA rs11107 0.49 0.49 0.466 0.48742 0.3748 0.6915 0.5663 0.4047 0.4489 0.39 0.69 0.53 0.38 0.44 0.69 0.19 T 0.0 B 0.0 B 0.043 N 0.000 P -2.015 N 1.27 T -0.912 T 0.000 T 0.257 -0.776 0.741 -3.63 -0.629 -0.024 0.443 -0.77634 NA 0.35 0.372326 0.37222 NA 0.435 NA 8.1462074 837 2 29416366 29416366 G C exonic ALK NA nonsynonymous SNV ALK:NM_004304:exon29:c.C4587G:p.D1529E exonic ENSG00000171094 NA nonsynonymous SNV ENSG00000171094:ENST00000431873:exon4:c.C1077G:p.D359E,ENSG00000171094:ENST00000389048:exon29:c.C4587G:p.D1529E NA NA 2p23.2 NA NA NA NA rs1881421 0.57 0.57 0.545 0.572883 0.3837 0.7292 0.5706 0.643 0.5133 0.4 0.73 0.53 0.66 0.46 0.73 1 T 0.0 B 0.0 B 0.119 N 1.000 P -1.78 N 1.7 T -0.993 T 0.000 T 0.008 -0.382 2.203 -3.42 -1.464 -0.022 11.802 -0.382484 NA 1 0.343837 0.608488 NA 0.587 NA 8.1457964 837 15 79058013 79058013 C T exonic ADAMTS7 NA nonsynonymous SNV ADAMTS7:NM_014272:exon19:c.G4240A:p.G1414S exonic ENSG00000136378 NA nonsynonymous SNV ENSG00000136378:ENST00000388820:exon19:c.G4240A:p.G1414S Score=415;Name=lod=65 NA 15q25.1 NA NA NA NA rs2929155 0.67 0.67 0.67 0.670128 0.7604 0.5903 0.6729 0.7186 0.592 0.73 0.57 0.64 0.7 0.6795 0.75 0.64 T 0.0 B 0.0 B 0.004 N 1.000 P -1.78 N 0.21 T -0.952 T 0.000 T 0.06 -1.159 0.096 4.37 0.521 2.233 7.690 -1.159009 NA 1 0.747896 0.743941 NA 0.348 NA 8.1455374 837 16 68721533 68721533 G C exonic CDH3 NA nonsynonymous SNV CDH3:NM_001793:exon12:c.G1689C:p.Q563H exonic ENSG00000062038 NA nonsynonymous SNV ENSG00000062038:ENST00000581171:exon11:c.G1524C:p.Q508H,ENSG00000062038:ENST00000264012:exon12:c.G1689C:p.Q563H,ENSG00000062038:ENST00000429102:exon12:c.G1689C:p.Q563H Score=419;Name=lod=67 NA 16q22.1 NA NA NA NA rs1126933 0.36 0.36 0.333 0.309904 0.4046 0.5139 0.3991 0.0242 0.3252 0.42 0.53 0.39 0.03 0.3658 0.53 0.43 T 0.029 B 0.008 B 0.001 N 0.051 P 1.005 L 0.13 T -0.919 T 0.000 T 0.303 0.489 6.651 -3.29 -0.578 -0.055 7.683 0.488628 NA 0.18 0.417442 0.090082 NA 0.42 NA 8.1454914 837 14 61857969 61857969 A G exonic PRKCH NA synonymous SNV PRKCH:NM_006255:exon2:c.A390G:p.V130V exonic ENSG00000027075 NA synonymous SNV ENSG00000027075:ENST00000332981:exon2:c.A390G:p.V130V,ENSG00000027075:ENST00000553830:exon2:c.A216G:p.V72V Score=524;Name=lod=179 NA 14q23.1 NA Name=NFKB Name=15 NA rs2230499 0.27 0.27 0.238 0.277556 0.163 0.248 0.1873 0.4955 0.1953 0.16 0.25 0.19 0.5 0.1987 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599096 NA NA 0.159884 0.405583 NA 0.246 NA 8.1450826 838 20 44184498 44184498 A G exonic WFDC8 NA nonsynonymous SNV WFDC8:NM_130896:exon4:c.T287C:p.M96T,WFDC8:NM_181510:exon4:c.T287C:p.M96T exonic ENSG00000158901 NA nonsynonymous SNV ENSG00000158901:ENST00000289953:exon4:c.T287C:p.M96T,ENSG00000158901:ENST00000357199:exon4:c.T287C:p.M96T NA NA 20q13.12 NA NA NA NA rs2272955 0.12 0.12 0.123 0.103435 0.0567 0.1716 0.0634 0.1694 0.0204 0.06 0.18 0.07 0.19 0.0736 0.19 0.86 T 0.001 B 0.001 B 0.058 N 1.000 P 0.445 N 0.47 T -1.053 T 0.000 T 0.033 -1.344 0.03 -3.81 -0.787 -0.262 10.238 -1.343661 NA 0.73 0.058953 0.162279 ID=COSM149185;OCCURENCE=1(stomach) 0.087 NA 8.1440804 838 10 95459817 95459817 C T exonic FRA10AC1 NA nonsynonymous SNV FRA10AC1:NM_145246:exon2:c.G47A:p.R16H exonic ENSG00000148690 NA nonsynonymous SNV ENSG00000148690:ENST00000359204:exon2:c.G47A:p.R16H,ENSG00000148690:ENST00000371430:exon2:c.G47A:p.R16H,ENSG00000148690:ENST00000394100:exon2:c.G47A:p.R16H,ENSG00000148690:ENST00000536233:exon2:c.G47A:p.R16H Score=569;Name=lod=275 NA 10q23.33 NA NA NA NA rs726817 0.66 0.66 0.647 0.622604 0.7495 0.6885 0.6729 0.469 0.5961 0.75 0.7 0.7 0.47 0.6979 0.75 0.3 T 0.001 B 0.001 B 0.049 N 1.000 P -0.345 N 1.96 T -1.027 T 0.000 T 0.047 0.784 8.136 4.07 0.958 0.538 5.582 0.7842 NA 0.46 0.742093 0.509986 NA 0.674 NA 8.1438404 838 16 68719113 68719113 G A exonic CDH3 NA nonsynonymous SNV CDH3:NM_001793:exon11:c.G1430A:p.R477H exonic ENSG00000062038 NA nonsynonymous SNV ENSG00000062038:ENST00000581171:exon10:c.G1265A:p.R422H,ENSG00000062038:ENST00000264012:exon11:c.G1430A:p.R477H,ENSG00000062038:ENST00000429102:exon11:c.G1430A:p.R477H Score=376;Name=lod=45 NA 16q22.1 NA NA NA NA rs34494880 0.03 0.03 0.03 0.0259585 0.0596 NA 0.0173 0.0023 0.0562 0.07 NA 0.02 0.002 0.055 0.075 0.21 T 0.007 B 0.008 B 0.843 N 0.994 N 0.82 L 0.61 T -1.050 T 0.007 T 0.045 1.585 11.26 0.567 0.072 -0.843 0.912 1.584836 1.584836 0.24 0.075 0.014786 NA 0.022 NA 8.1437334 838 12 52912906 52912906 G T exonic KRT5 NA synonymous SNV KRT5:NM_000424:exon2:c.C594A:p.T198T exonic ENSG00000186081 NA synonymous SNV ENSG00000186081:ENST00000252242:exon2:c.C594A:p.T198T,ENSG00000186081:ENST00000549420:exon3:c.C264A:p.T88T Score=569;Name=lod=273 NA 12q13.13 Score=708;Name=V$PPARG_02 NA NA NA rs641621 0.25 0.25 0.082 0.215056 0.2823 0.3393 0.2233 0.1089 0.1554 0.27 0.35 0.25 0.12 0.2413 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.478727 1.478727 NA NA NA NA 0.268 CLINSIG=untested;CLNDBN=not_provided,not_provided;CLNREVSTAT=not,not;CLNACC=RCV000056637.1,RCV000056636.1;CLNDSDB=.,.;CLNDSDBID=.,. 8.1430666 838 9 91994101 91994101 G A exonic SEMA4D NA nonsynonymous SNV SEMA4D:NM_006378:exon18:c.C2107T:p.P703S exonic ENSG00000187764 NA nonsynonymous SNV ENSG00000187764:ENST00000422704:exon16:c.C2107T:p.P703S,ENSG00000187764:ENST00000450295:exon16:c.C2107T:p.P703S,ENSG00000187764:ENST00000356444:exon17:c.C2107T:p.P703S,ENSG00000187764:ENST00000438547:exon18:c.C2107T:p.P703S NA NA 9q22.2 NA NA NA NA rs62638726 0.03 0.03 0.027 0.0361422 0.0636 NA 0.0303 0.003 0.0941 0.06 NA 0.04 0.01 0.0601 0.087 0.53 T 0.008 B 0.003 B 0.483 N 1.000 P 0.46 N -1.23 T -1.026 T 0.022 T 0.056 -1.781 0.01 0.315 0.193 1.401 6.319 -1.781393 NA 1 0.067674 0.013391 NA 0.058 NA 8.1419594 838 6 151670172 151670172 A C exonic AKAP12 NA nonsynonymous SNV AKAP12:NM_144497:exon2:c.A352C:p.K118Q,AKAP12:NM_005100:exon4:c.A646C:p.K216Q exonic ENSG00000131016 NA nonsynonymous SNV ENSG00000131016:ENST00000354675:exon2:c.A352C:p.K118Q,ENSG00000131016:ENST00000359755:exon2:c.A331C:p.K111Q,ENSG00000131016:ENST00000253332:exon3:c.A646C:p.K216Q,ENSG00000131016:ENST00000402676:exon4:c.A646C:p.K216Q Score=340;Name=lod=32 NA 6q25.1 NA NA NA NA rs3734799 0.58 0.58 0.548 0.54393 0.7614 0.4593 0.6254 0.3638 0.593 0.76 0.51 0.64 0.34 0.6729 0.76 0.77 T 0.001 B 0.001 B 0.559 N 1.000 P -1.79 N 3.18 T -0.922 T 0.002 T 0.037 -1.287 0.041 4.49 1.443 0.834 8.281 -1.286511 NA 0.99 0.758605 0.426691 NA 0.58 NA 8.1404284 838 11 8707233 8707233 C T exonic RPL27A NA synonymous SNV RPL27A:NM_000990:exon5:c.C327T:p.Y109Y exonic ENSG00000166441 NA synonymous SNV ENSG00000166441:ENST00000530913:exon2:c.C156T:p.Y52Y,ENSG00000166441:ENST00000526562:exon4:c.C156T:p.Y52Y,ENSG00000166441:ENST00000530022:exon4:c.C156T:p.Y52Y,ENSG00000166441:ENST00000314138:exon5:c.C327T:p.Y109Y,ENSG00000166441:ENST00000524496:exon5:c.C156T:p.Y52Y,ENSG00000166441:ENST00000532359:exon5:c.C222T:p.Y74Y Score=663;Name=lod=659 NA 11p15.4 NA Name=p300,SP1 Name=9 NA rs6735 0.19 0.19 0.16 0.185304 0.1779 0.2798 0.17 0.0946 0.229 0.19 0.26 0.21 0.09 0.1793 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895059 NA NA 0.170391 0.103362 NA 0.188 NA 8.1390756 838 19 44056412 44056412 C T exonic XRCC1 NA nonsynonymous SNV XRCC1:NM_006297:exon9:c.G839A:p.R280H exonic ENSG00000073050 NA nonsynonymous SNV ENSG00000073050:ENST00000543982:exon8:c.G746A:p.R249H,ENSG00000073050:ENST00000262887:exon9:c.G839A:p.R280H,ENSG00000073050:ENST00000598165:exon9:c.G860A:p.R287H NA NA 19q13.31 NA NA NA NA rs25489 0.06 0.06 0.066 0.0670927 0.0586 0.1002 0.0648 0.0257 0.0992 0.06 0.09 0.07 0.01 0.0881 0.098 0.08 T 0.954 P 0.481 P 0.945 N 1.000 P 1.79 L 4.15 T -0.951 T 0.001 T 0.178 2.183 13.26 -0.704 0.006 0.834 4.900 2.183362 2.183362 0.11 0.048395 0.031804 ID=COSM1394288;OCCURENCE=1(large_intestine) 0.065 NA 8.1382384 838 18 9887497 9887497 G A exonic TXNDC2 NA nonsynonymous SNV TXNDC2:NM_001098529:exon2:c.G1021A:p.E341K,TXNDC2:NM_032243:exon2:c.G820A:p.E274K exonic ENSG00000168454 NA nonsynonymous SNV ENSG00000168454:ENST00000306084:exon2:c.G1021A:p.E341K,ENSG00000168454:ENST00000357775:exon2:c.G820A:p.E274K NA NA 18p11.22 NA NA NA NA rs11081510 0.75 0.75 0.776 0.800319 0.7137 0.999 0.8271 0.6944 0.8088 0.66 0.95 0.73 0.67 0.764 0.95 . . 0.028 B 0.021 B . . 1.000 P 1.585 L 2.34 T -1.010 T 0.000 T 0.035 1.369 10.5 -3.77 -1.211 -3.459 13.314 1.368774 1.368774 NA 0.717442 0.718566 NA 0.594 NA 8.1381914 838 18 44585955 44585955 G A exonic KATNAL2 NA nonsynonymous SNV KATNAL2:NM_031303:exon5:c.G263A:p.S88N exonic ENSG00000167216 NA nonsynonymous SNV ENSG00000167216:ENST00000245121:exon5:c.G263A:p.S88N,ENSG00000167216:ENST00000356157:exon6:c.G479A:p.S160N,ENSG00000167216:ENST00000585469:exon6:c.G419A:p.S140N NA NA 18q21.1 NA NA NA NA rs7233515 0.41 0.41 0.389 0.435304 0.3718 0.4752 0.562 0.3457 0.4908 0.37 0.45 0.53 0.35 0.4236 0.53 0.38 T 0.001 B 0.003 B 0.976 N 1.000 P 0.4 N -3.34 D -1.049 T 0.000 T 0.038 1.493 10.94 -4.83 -0.685 -0.937 6.742 1.492908 1.492908 0.21 0.399767 0.347027 NA 0.275 NA 8.1381664 838 20 36668874 36668874 G A exonic RPRD1B NA synonymous SNV RPRD1B:NM_021215:exon2:c.G189A:p.A63A exonic ENSG00000101413 NA synonymous SNV ENSG00000101413:ENST00000373433:exon2:c.G189A:p.A63A,ENSG00000101413:ENST00000495457:exon2:c.G189A:p.A63A Score=694;Name=lod=885 NA 20q11.23 Score=755;Name=V$MEF2_04 Name=JunD,c-Jun NA NA rs2273353 0.23 0.23 0.225 0.290735 0.164 0.2163 0.134 0.4962 0.3313 0.17 0.17 0.15 0.47 0.2008 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125817 NA NA 0.164302 0.43347 ID=COSM1179793;OCCURENCE=1(prostate) 0.188 NA 8.1375646 838 7 57528997 57528997 T C exonic ZNF716 NA nonsynonymous SNV ZNF716:NM_001159279:exon4:c.T830C:p.V277A exonic ENSG00000182111 NA nonsynonymous SNV ENSG00000182111:ENST00000420713:exon4:c.T830C:p.V277A Score=317;Name=lod=26 NA 7p11.2 NA Name=SETDB1,ZNF274 NA NA rs10272498 0.41 0.41 0.403 0.421126 0.3797 0.5397 0.4798 0.3215 0.4346 0.37 0.54 0.44 0.33 0.423 0.54 1 T 0.0 B 0.0 B . . 1.000 P -0.89 N 1.37 T -0.947 T 0.000 T 0.019 -2.103 0.006 0.195 -0.675 0.056 2.236 -2.10313 NA 1 0.393149 0.346821 NA 0.449 NA 8.1374844 838 22 32754230 32754230 A G exonic RFPL3 NA nonsynonymous SNV RFPL3:NM_001098535:exon1:c.A172G:p.T58A,RFPL3:NM_006604:exon2:c.A85G:p.T29A exonic ENSG00000128276 NA nonsynonymous SNV ENSG00000128276:ENST00000249007:exon1:c.A172G:p.T58A,ENSG00000128276:ENST00000382088:exon1:c.A85G:p.T29A,ENSG00000128276:ENST00000397468:exon2:c.A85G:p.T29A NA NA 22q12.3 NA NA NA NA rs57676160 0.14 0.14 0.088 0.147165 0.0427 0.4603 0.0951 0.0295 0.1278 0.04 0.42 0.09 0.02 0.0999 0.42 0.9 T 0.0 B 0.001 B . . 1.000 P 0.83 L -3.48 D -0.967 T 0.000 T 0.02 -2.102 0.006 -1.24 -2.719 0.834 . -2.102065 NA 0.74 0.053372 0.039719 NA 0.007 NA 8.1373614 838 18 48190440 48190440 G A exonic MAPK4 NA nonsynonymous SNV MAPK4:NM_002747:exon2:c.G112A:p.V38M exonic ENSG00000141639 NA nonsynonymous SNV ENSG00000141639:ENST00000400384:exon2:c.G112A:p.V38M,ENSG00000141639:ENST00000588540:exon2:c.G112A:p.V38M,ENSG00000141639:ENST00000592595:exon2:c.G112A:p.V38M NA NA 18q21.1 NA NA NA NA rs3752087 0.33 0.33 0.326 0.307508 0.4354 0.4187 0.2579 0.1135 0.3589 0.4 0.43 0.31 0.14 0.3656 0.43 0.08 T 0.939 P 0.729 P 0.498 N 1.000 P 1.57 L 0.89 T -0.996 T 0.000 T 0.03 0.729 7.874 -4.07 -0.635 0.262 14.095 0.728811 NA 0.08 0.39533 0.153737 NA 0.471 NA 8.1370034 838 14 94936107 94936107 G A exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_001042518:exon2:c.C125T:p.A42V,SERPINA9:NM_175739:exon2:c.C125T:p.A42V exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000298845:exon2:c.C125T:p.A42V,ENSG00000170054:ENST00000337425:exon2:c.C125T:p.A42V,ENSG00000170054:ENST00000380365:exon2:c.C71T:p.A24V NA NA 14q32.13 NA NA NA NA rs4905204 0.06 0.06 0.054 0.0726837 0.0755 0.1181 0.0331 0.0144 0.1299 0.06 0.12 0.04 0.02 0.059 0.12 0.23 T 0.0 B 0.001 B 0.054 N 1.000 P 0 N -2.31 D -0.952 T 0.010 T 0.025 -0.114 3.44 0.963 -0.298 0.285 5.952 -0.114198 NA 0 0.061841 0.022886 NA 0.051 NA 8.1369924 838 21 47552385 47552385 C T exonic COL6A2 NA synonymous SNV COL6A2:NM_001849:exon28:c.C2979T:p.R993R exonic ENSG00000142173 NA synonymous SNV ENSG00000142173:ENST00000300527:exon28:c.C2979T:p.R993R Score=511;Name=lod=159 NA 21q22.3 Score=800;Name=V$YY1_02 NA NA NA rs6652 0.11 0.11 0.145 0.0924521 0.1978 0.0288 0.0749 0.0893 0.0665 0.19 0.03 0.09 0.08 0.1373 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049328 NA NA 0.195162 0.112903 NA 0.181 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079889.2;CLNDSDB=.;CLNDSDBID=. 8.1364046 838 22 32754306 32754306 T C exonic RFPL3 NA nonsynonymous SNV RFPL3:NM_001098535:exon1:c.T248C:p.M83T,RFPL3:NM_006604:exon2:c.T161C:p.M54T exonic ENSG00000128276 NA nonsynonymous SNV ENSG00000128276:ENST00000249007:exon1:c.T248C:p.M83T,ENSG00000128276:ENST00000382088:exon1:c.T161C:p.M54T,ENSG00000128276:ENST00000397468:exon2:c.T161C:p.M54T NA NA 22q12.3 NA NA NA NA rs16987625 0.16 0.16 0.134 0.145767 0.0408 0.4583 0.0908 0.0303 0.1268 0.04 0.45 0.1 0.02 0.1011 0.45 0.43 T 0.0 B 0.0 B . . 1.000 P 0 N 1.98 T -0.924 T 0.000 T 0.033 -2.141 0.005 -1.7 -2.354 -0.115 2.436 -2.141191 NA 0.06 0.055116 0.046074 NA 0.08 NA 8.1363174 839 12 71016340 71016340 C T exonic PTPRB NA nonsynonymous SNV PTPRB:NM_001109754:exon3:c.G538A:p.G180S exonic ENSG00000127329 NA nonsynonymous SNV ENSG00000127329:ENST00000334414:exon3:c.G538A:p.G180S,ENSG00000127329:ENST00000550358:exon3:c.G538A:p.G180S,ENSG00000127329:ENST00000551525:exon3:c.G535A:p.G179S NA NA 12q15 NA NA NA NA rs7298147 0.02 0.02 0.027 0.0197684 0.0507 NA 0.0216 0.0061 0.0256 0.05 NA 0.02 0.02 0.0777 0.072 0.86 T 0.0 B 0.0 B . . 1.000 N -0.695 N 4.28 T -0.914 T 0.001 T 0.033 -0.472 1.822 2.04 0.112 0.393 5.724 -0.47211 NA 0.88 0.071741 0.012267 NA 0.029 NA 8.1331924 839 13 41835039 41835039 T C exonic MTRF1 NA nonsynonymous SNV MTRF1:NM_004294:exon2:c.A5G:p.N2S exonic ENSG00000120662 NA nonsynonymous SNV ENSG00000120662:ENST00000379480:exon2:c.A5G:p.N2S,ENSG00000120662:ENST00000430347:exon3:c.A44G:p.N15S,ENSG00000120662:ENST00000452359:exon3:c.A5G:p.N2S,ENSG00000120662:ENST00000379477:exon4:c.A5G:p.N2S Score=452;Name=lod=92 NA 13q14.11 NA NA NA NA rs9532758 0.07 0.07 0.074 0.0706869 0.0656 0.003 0.0418 0.1702 0.0317 0.07 0.01 0.05 0.18 0.0678 0.18 0.55 T 0.01 B 0.005 B 0.378 N 0.996 P 0.145 N 3.05 T -0.938 T 0.000 T 0.069 1.63 11.41 -0.275 0.036 0.594 9.832 1.629583 1.629583 0.5 0.067093 0.155697 NA 0.058 NA 8.1328404 839 12 86198935 86198935 C T exonic RASSF9 NA nonsynonymous SNV RASSF9:NM_005447:exon2:c.G853A:p.A285T exonic ENSG00000198774 NA nonsynonymous SNV ENSG00000198774:ENST00000361228:exon2:c.G853A:p.A285T NA NA 12q21.31 NA NA NA NA rs7397266 0.06 0.06 0.046 0.0433307 0.0656 0.0466 0.0922 0.0265 0.0051 0.06 0.05 0.08 0.03 0.0605 0.08 0.37 T 0.116 B 0.051 B 0.149 U 1.000 P 1.04 L 0.89 T -1.057 T 0.005 T 0.114 0.727 7.867 2.54 0.479 0.283 8.261 0.72729 NA 0.22 0.074756 0.036158 NA 0.072 NA 8.1324774 839 5 179267949 179267949 T C exonic C5orf45 NA nonsynonymous SNV C5orf45:NM_001017987:exon4:c.A295G:p.R99G,C5orf45:NM_016175:exon6:c.A460G:p.R154G exonic ENSG00000161010 NA nonsynonymous SNV ENSG00000161010:ENST00000376931:exon4:c.A295G:p.R99G,ENSG00000161010:ENST00000520698:exon4:c.A295G:p.R99G,ENSG00000161010:ENST00000523084:exon5:c.A58G:p.R20G,ENSG00000161010:ENST00000292586:exon6:c.A460G:p.R154G,ENSG00000161010:ENST00000518219:exon6:c.A460G:p.R154G,ENSG00000161010:ENST00000518235:exon6:c.A460G:p.R154G,ENSG00000161010:ENST00000403396:exon7:c.A586G:p.R196G Score=295;Name=lod=21 NA 5q35.3 NA Name=ZNF263,Pol2 Name=18 NA rs248248 0.83 0.83 0.818 0.846845 0.7097 0.8958 0.8458 0.9546 0.7924 0.7 0.91 0.78 0.96 0.7849 0.96 0.26 T 0.254 B 0.05 B 0.309 N 0.000 P 0 N 3.19 T -1.048 T 0.000 T 0.044 1.3 10.26 1.61 0.191 0.596 5.128 1.299845 1.299845 0.28 0.706395 0.909215 NA 0.819 NA 8.1323384 839 21 46086758 46086758 C T exonic KRTAP12-2 NA nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.G46A:p.A16T exonic ENSG00000221864 NA nonsynonymous SNV ENSG00000221864:ENST00000360770:exon1:c.G46A:p.A16T NA NA 21q22.3 NA Name=HA-E2F1,c-Myc Name=3 NA rs13046903 0.68 0.68 0.717 0.771166 0.7624 0.6597 0.7493 0.8608 0.7894 0.68 0.59 0.71 0.78 0.7386 0.84 0.31 T 0.002 B 0.005 B . . 1.000 P -0.945 N 4.08 T -1.102 T 0.000 T 0.011 0.584 7.155 -0.954 -0.448 -4.558 9.965 0.584458 NA NA 0.704096 0.840037 NA NA NA 8.1282374 839 12 116408538 116408538 A G exonic MED13L NA synonymous SNV MED13L:NM_015335:exon27:c.T5928C:p.T1976T exonic ENSG00000123066 NA synonymous SNV ENSG00000123066:ENST00000281928:exon27:c.T5928C:p.T1976T Score=569;Name=lod=273 NA 12q24.21 NA NA NA NA rs2304460 0.15 0.15 0.15 0.152756 0.1899 0.1696 0.1311 0.0696 0.2249 0.17 0.16 0.14 0.12 0.1694 0.18 . . . . . . . . 0.000 P . . . . -1.041 T 0.000 T . 1.172 9.767 3.21 0.534 0.413 1.737 1.171638 NA NA 0.180465 0.093509 ID=COSM147620;OCCURENCE=1(stomach) 0.159 NA 8.1269016 839 19 1110829 1110829 G A exonic SBNO2 NA synonymous SNV SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N exonic ENSG00000064932 NA synonymous SNV ENSG00000064932:ENST00000438103:exon23:c.C2772T:p.N924N,ENSG00000064932:ENST00000361757:exon26:c.C2943T:p.N981N,ENSG00000064932:ENST00000587024:exon26:c.C2913T:p.N971N Score=607;Name=lod=389 NA 19p13.3 Score=857;Name=V$GRE_C Name=GR,AP-2gamma Name=33 NA rs2302109 0.55 0.55 0.529 0.558307 0.505 0.4405 0.6383 0.6604 0.5399 0.5 0.45 0.6 0.69 0.5352 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162668 NA NA 0.500473 0.666905 NA 0.536 NA 8.1259936 840 13 76395464 76395464 C T exonic LMO7 NA nonsynonymous SNV LMO7:NM_015842:exon11:c.C1660T:p.P554S,LMO7:NM_005358:exon13:c.C1513T:p.P505S exonic ENSG00000136153 NA nonsynonymous SNV ENSG00000136153:ENST00000526202:exon9:c.C1210T:p.P404S,ENSG00000136153:ENST00000465261:exon11:c.C1660T:p.P554S,ENSG00000136153:ENST00000321797:exon12:c.C1660T:p.P554S,ENSG00000136153:ENST00000377499:exon12:c.C1357T:p.P453S,ENSG00000136153:ENST00000341547:exon13:c.C1513T:p.P505S,ENSG00000136153:ENST00000357063:exon15:c.C2515T:p.P839S,ENSG00000136153:ENST00000377534:exon15:c.C2515T:p.P839S NA NA 13q22.2 NA NA NA NA rs41286126 0.07 0.07 0.071 0.0712859 0.0755 0.0407 0.0562 0.0764 0.1022 0.07 0.05 0.06 0.09 0.0639 0.09 0.57 T 0.023 B 0.01 B 0.716 N 1.000 P 0.77 N 1.58 T -1.044 T 0.005 T 0.185 -0.334 2.415 2.02 0.403 0.059 8.172 -0.334386 NA 0.37 0.069419 0.061507 NA 0.029 NA 8.1245144 840 8 77690563 77690563 T C exonic ZFHX4 NA synonymous SNV ZFHX4:NM_024721:exon4:c.T3213C:p.H1071H exonic ENSG00000091656 NA synonymous SNV ENSG00000091656:ENST00000518282:exon3:c.T3135C:p.H1045H,ENSG00000091656:ENST00000050961:exon4:c.T3135C:p.H1045H,ENSG00000091656:ENST00000455469:exon4:c.T3135C:p.H1045H,ENSG00000091656:ENST00000521891:exon4:c.T3213C:p.H1071H Score=503;Name=lod=147 NA 8q21.11 Score=826;Name=V$HNF1_C NA Name=15 NA rs16939357 0.34 0.34 0.344 0.334864 0.167 0.3929 0.2147 0.5983 0.1769 0.17 0.43 0.23 0.58 0.2211 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033523 NA NA 0.154541 0.531144 NA 0.304 NA 8.1240256 840 22 38121152 38121152 C A exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.C2589A:p.N863K exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon7:c.C2589A:p.N863K NA NA 22q13.1 NA NA NA NA rs9610841 0.38 0.38 0.338 0.336262 0.3877 0.5863 0.2853 0.1536 0.3088 0.39 0.58 0.31 0.17 0.3925 0.58 0.04 D 0.421 B 0.058 B . . 1.000 P 1.975 M 2.05 T -0.951 T 0.000 T 0.04 3.064 16.23 1.51 0.622 -0.011 4.962 3.063622 3.063622 0.05 0.429187 0.175789 NA 0.377 NA 8.1239464 840 11 26621117 26621117 A C exonic ANO3 NA synonymous SNV ANO3:NM_031418:exon17:c.A1692C:p.A564A exonic ENSG00000134343 NA synonymous SNV ENSG00000134343:ENST00000531568:exon14:c.A1254C:p.A418A,ENSG00000134343:ENST00000256737:exon17:c.A1692C:p.A564A,ENSG00000134343:ENST00000525139:exon17:c.A1644C:p.A548A,ENSG00000134343:ENST00000537978:exon18:c.A1644C:p.A548A Score=521;Name=lod=175 NA 11p14.2 NA Name=STAT3 Name=59 NA rs11604868 0.21 0.21 0.189 0.162939 0.2058 0.3224 0.1268 0.0794 0.093 0.2 0.33 0.19 0.08 0.1605 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.42637 1.42637 NA 0.177716 0.087835 NA 0.159 NA 8.1226506 840 11 95512060 95512060 A G exonic FAM76B NA synonymous SNV FAM76B:NM_144664:exon8:c.T754C:p.L252L exonic ENSG00000077458 NA synonymous SNV ENSG00000077458:ENST00000358780:exon8:c.T754C:p.L252L,ENSG00000077458:ENST00000536839:exon8:c.T751C:p.L251L Score=717;Name=lod=1094 NA 11q21 Score=723;Name=V$SRF_01 Name=BATF,SRF Name=5 NA rs1150360 0.57 0.57 0.605 0.577276 0.5119 0.3433 0.4942 0.9274 0.4714 0.51 0.39 0.54 0.92 0.5212 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441861 NA NA 0.513325 0.844173 NA 0.601 NA 8.1202416 840 18 44561619 44561619 G C exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.C17G:p.T6S exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.C17G:p.T6S NA NA 18q21.1 NA NA NA NA rs61738602 0.06 0.06 0.062 0.0379393 0.0835 0.0069 0.0418 0.0499 0.0041 0.09 0.01 0.05 0.07 0.0574 0.09 1 T 0.012 B 0.003 B 0.016 N 1.000 P -1.185 N 3.51 T -0.974 T 0.000 T 0.015 -3.777 0.001 -0.39 -2.617 -1.886 . -3.777083 NA 0.44 0.072226 0.059718 NA 0.138 NA 8.1202074 840 19 53345110 53345110 A G exonic ZNF468 NA nonsynonymous SNV ZNF468:NM_001008801:exon4:c.T437C:p.L146S exonic ENSG00000204604 NA nonsynonymous SNV ENSG00000204604:ENST00000390651:exon4:c.T278C:p.L93S,ENSG00000204604:ENST00000595646:exon4:c.T437C:p.L146S,ENSG00000204604:ENST00000396409:exon5:c.T278C:p.L93S NA NA 19q13.41 NA NA NA NA rs61729942 0.07 0.07 0.061 NA NA NA NA NA NA 0.09 0.05 0.08 0.05 0.1068 0.11 1 T 0.0 B 0.0 B . . 1.000 P -1.57 N 3.57 T -0.987 T 0.000 T 0.075 -2.235 0.005 -1.89 -1.263 0.107 2.889 -2.234614 NA 0.8 0.106395 0.09192 NA 0.101 NA 8.1201384 840 9 14747412 14747412 A G exonic FREM1 NA synonymous SNV FREM1:NM_001177704:exon10:c.T1467C:p.V489V,FREM1:NM_144966:exon34:c.T5859C:p.V1953V exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380894:exon10:c.T1467C:p.V489V,ENSG00000164946:ENST00000380880:exon33:c.T5859C:p.V1953V,ENSG00000164946:ENST00000380881:exon34:c.T5862C:p.V1954V,ENSG00000164946:ENST00000422223:exon34:c.T5859C:p.V1953V NA NA 9p22.3 Score=858;Name=V$STAT5A_01 Name=GATA-2,c-Fos Name=18 NA rs4741426 0.15 0.15 0.117 0.13738 0.1839 0.1806 0.2161 0.0076 0.1646 0.19 0.17 0.2 0.01 0.1702 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.241565 NA NA 0.192961 0.041733 NA 0.101 NA 8.1196056 840 1 227935444 227935444 A G exonic SNAP47 NA nonsynonymous SNV SNAP47:NM_053052:exon2:c.A142G:p.R48G exonic ENSG00000143740 NA nonsynonymous SNV ENSG00000143740:ENST00000315781:exon2:c.A142G:p.R48G,ENSG00000143740:ENST00000366759:exon2:c.A142G:p.R48G Score=391;Name=lod=52 NA 1q42.13 NA NA NA NA rs2236359 0.42 0.42 0.397 0.419329 0.3996 0.3651 0.4928 0.4826 0.3579 0.4 0.37 0.46 0.47 0.4018 0.47 0.21 T 0.001 B 0.002 B 0.439 N 0.000 P 1.175 L 2.31 T -0.933 T 0.000 T 0.411 0.437 6.376 1.67 0.139 2.485 4.557 0.437453 NA 0.18 0.412791 0.439628 NA 0.355 NA 8.1191424 840 16 2138269 2138269 T C exonic TSC2 NA synonymous SNV TSC2:NM_001077183:exon39:c.T5001C:p.D1667D,TSC2:NM_001114382:exon40:c.T5133C:p.D1711D,TSC2:NM_000548:exon41:c.T5202C:p.D1734D exonic ENSG00000103197 NA synonymous SNV ENSG00000103197:ENST00000382538:exon38:c.T4857C:p.D1619D,ENSG00000103197:ENST00000439673:exon38:c.T4893C:p.D1631D,ENSG00000103197:ENST00000401874:exon39:c.T5001C:p.D1667D,ENSG00000103197:ENST00000568454:exon39:c.T5034C:p.D1678D,ENSG00000103197:ENST00000350773:exon40:c.T5133C:p.D1711D,ENSG00000103197:ENST00000353929:exon40:c.T5073C:p.D1691D,ENSG00000103197:ENST00000219476:exon41:c.T5202C:p.D1734D Score=591;Name=lod=336 NA 16p13.3 Score=812;Name=V$CDPCR3_01 NA NA NA rs1748 0.26 0.26 0.26 0.276358 0.1839 NA 0.1988 0.7481 0.0736 0.18 NA 0.22 0.71 0.1883 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828928 NA NA 0.178065 0.63444 NA 0.275 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome,Tuberous_sclerosis_syndrome|Lymphangiomyomatosis|Tuberous_sclerosis_syndrome|not_specified;CLNREVSTAT=not,not|not|not|single;CLNACC=RCV000055236.1,RCV000043161.2|RCV000055450.1|RCV000055450.1|RCV000118713.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT,GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK1220:C0041341:191100:7199000,NBK1220:C0041341:191100:7199000|C0751674:606690:ORPHA538:73017001|NBK1220:C0041341:191100:7199000|. 8.1164016 841 7 100028187 100028187 C T exonic MEPCE NA synonymous SNV MEPCE:NM_019606:exon1:c.C546T:p.P182P exonic ENSG00000146834 NA synonymous SNV ENSG00000146834:ENST00000310512:exon1:c.C546T:p.P182P Score=548;Name=lod=224 NA 7q22.1 NA Name=SP1,PU.1,Pol2,GABP,ETS1,ELF1_(SC-631),Pol2-4H8,ZNF263,Sin3Ak-20 Name=67 NA rs6975729 0.12 0.12 0.11 0.117013 0.1928 0.0218 0.1196 0.1354 0.1104 0.19 0.01 0.12 0.11 0.1624 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686866 NA NA 0.196512 0.152816 NA 0.109 NA 8.1149546 841 3 130992385 130992385 T C exonic NEK11 NA nonsynonymous SNV NEK11:NM_024800:exon17:c.T1685C:p.V562A exonic ENSG00000114670 NA nonsynonymous SNV ENSG00000114670:ENST00000510769:exon13:c.T1370C:p.V457A,ENSG00000114670:ENST00000412440:exon14:c.T1133C:p.V378A,ENSG00000114670:ENST00000508196:exon15:c.T1685C:p.V562A,ENSG00000114670:ENST00000429253:exon16:c.T1685C:p.V562A,ENSG00000114670:ENST00000383366:exon17:c.T1685C:p.V562A NA NA 3q22.1 NA Name=CTCF NA NA rs16836266 0.19 0.19 0.179 0.189297 0.0537 0.2837 0.1844 0.3139 0.0665 0.04 0.3 0.17 0.3 0.1065 0.3 0.52 T 0.0 B 0.001 B 0.260 N 1.000 P -0.895 N -0.2 T -1.041 T 0.000 T 0.031 -1.758 0.01 1.66 0.059 0.378 12.175 -1.758049 NA 0.37 0.059651 0.26759 NA 0.145 NA 8.1134824 841 3 167051769 167051769 T C exonic ZBBX NA nonsynonymous SNV ZBBX:NM_001199201:exon10:c.A533G:p.K178R,ZBBX:NM_001199202:exon10:c.A446G:p.K149R,ZBBX:NM_024687:exon10:c.A533G:p.K178R exonic ENSG00000169064 NA nonsynonymous SNV ENSG00000169064:ENST00000307529:exon7:c.A533G:p.K178R,ENSG00000169064:ENST00000392767:exon7:c.A533G:p.K178R,ENSG00000169064:ENST00000455345:exon9:c.A533G:p.K178R,ENSG00000169064:ENST00000392764:exon10:c.A446G:p.K149R,ENSG00000169064:ENST00000392766:exon10:c.A533G:p.K178R Score=321;Name=lod=27 NA 3q26.1 NA NA NA NA rs11923054 0.27 0.27 0.25 0.25619 0.4115 0.1786 0.3343 0.0711 0.3712 0.41 0.18 0.35 0.1 0.3832 0.43 0.22 T 0.215 B 0.097 B 0.004 U 0.984 P 1.845 L 1.54 T -0.924 T 0.000 T 0.05 0.673 7.602 1.08 0.287 1.631 6.851 0.67302 NA 0.17 0.425579 0.128083 NA 0.341 NA 8.1130544 841 11 5906291 5906291 T C exonic OR52E4 NA nonsynonymous SNV OR52E4:NM_001005165:exon1:c.T769C:p.F257L exonic ENSG00000180974 NA nonsynonymous SNV ENSG00000180974:ENST00000316987:exon1:c.T769C:p.F257L Score=445;Name=lod=86 NA 11p15.4 NA NA NA NA rs11823842 0.38 0.38 0.356 0.357428 0.4085 0.3641 0.402 0.3207 0.316 0.42 0.36 0.42 0.31 0.3902 0.42 0.54 T 0.0 B 0.008 B 0.003 N 0.000 P -0.24 N 8.95 T -1.232 T 0.000 T 0.076 0.513 6.783 3.94 0.923 -0.489 6.806 0.513407 NA 0.49 0.421788 0.339618 NA 0.355 NA 8.1128454 841 4 76722353 76722353 G A exonic USO1 NA unknown UNKNOWN exonic ENSG00000138768 NA synonymous SNV ENSG00000138768:ENST00000514213:exon17:c.G1941A:p.Q647Q,ENSG00000138768:ENST00000538159:exon18:c.G2013A:p.Q671Q Score=592;Name=lod=340 NA 4q21.1 NA Name=c-Fos Name=34 NA rs324726 0.71 0.71 0.668 0.652556 0.7604 0.8859 0.768 0.3449 0.635 0.77 0.9 0.79 0.34 0.7183 0.9 . . . . . . . . 0.000 P . . . . -1.019 T 0.000 T . 1.235 10.02 1.24 -0.361 2.553 14.550 1.23531 1.23531 NA 0.743468 0.37961 NA 0.58 NA 8.1111653 841 14 24736961 24736961 T C exonic RABGGTA NA nonsynonymous SNV RABGGTA:NM_004581:exon13:c.A1258G:p.T420A,RABGGTA:NM_182836:exon14:c.A1258G:p.T420A exonic ENSG00000100949 NA nonsynonymous SNV ENSG00000100949:ENST00000560243:exon3:c.A166G:p.T56A,ENSG00000100949:ENST00000560777:exon7:c.A85G:p.T29A,ENSG00000100949:ENST00000399409:exon13:c.A1258G:p.T420A,ENSG00000100949:ENST00000216840:exon14:c.A1258G:p.T420A,ENSG00000100949:ENST00000558376:exon14:c.A1262G:p.N421S,ENSG00000100949:ENST00000559974:exon14:c.A1262G:p.N421S NA NA 14q12 NA NA NA NA rs729421 0.56 0.56 0.55 0.602436 0.3837 0.6181 0.5519 0.7663 0.6258 0.4 0.62 0.52 0.76 0.4669 0.76 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.355 N 1.02 T -0.948 T 0.000 T 0.123 -0.337 2.403 3.66 0.768 1.958 7.889 -0.337163 NA 1 0.372128 0.694061 NA 0.442 NA 8.1106054 841 14 20757804 20757804 C A exonic TTC5 NA synonymous SNV TTC5:NM_138376:exon10:c.G1305T:p.S435S exonic ENSG00000136319 NA synonymous SNV ENSG00000136319:ENST00000258821:exon10:c.G1305T:p.S435S NA NA 14q11.2 NA NA NA NA rs3737220 0.11 0.11 0.109 0.116414 0.1918 0.0972 0.0821 0.0333 0.1953 0.19 0.09 0.09 0.03 0.165 0.2 . . . . . . . . 0.500 P . . . . -1.108 T 0.000 T . -1.054 0.191 -11.0 -3.884 -5.813 3.448 -1.05354 NA NA 0.200465 0.052882 NA 0.094 NA 8.1094016 841 3 197579466 197579466 C T exonic LRCH3 NA nonsynonymous SNV LRCH3:NM_032773:exon13:c.C1565T:p.P522L exonic ENSG00000186001 NA nonsynonymous SNV ENSG00000186001:ENST00000433298:exon2:c.C56T:p.P19L,ENSG00000186001:ENST00000452660:exon2:c.C98T:p.P33L,ENSG00000186001:ENST00000536618:exon8:c.C350T:p.P117L,ENSG00000186001:ENST00000441090:exon10:c.C1103T:p.P368L,ENSG00000186001:ENST00000334859:exon13:c.C1565T:p.P522L,ENSG00000186001:ENST00000414675:exon13:c.C1481T:p.P494L,ENSG00000186001:ENST00000425562:exon13:c.C1565T:p.P522L,ENSG00000186001:ENST00000438796:exon13:c.C1565T:p.P522L NA NA 3q29 NA NA NA NA rs36078463 0.1 0.1 0.098 0.105232 0.0746 0.1835 0.0447 0.115 0.0859 0.08 0.16 0.05 0.1 0.0764 0.16 0.1 T 0.01 B 0.015 B 0.015 N 1.000 P 0.46 N 2.38 T -1.080 T 0.000 T 0.148 -0.076 3.629 2.74 0.740 0.499 3.888 -0.076024 NA 0.06 0.073605 0.1069 NA 0.072 NA 8.1087284 841 17 79095144 79095144 G A exonic AATK NA synonymous SNV AATK:NM_004920:exon10:c.C2283T:p.A761A,AATK:NM_001080395:exon11:c.C2592T:p.A864A exonic ENSG00000181409 NA synonymous SNV ENSG00000181409:ENST00000570932:exon1:c.C162T:p.A54A,ENSG00000181409:ENST00000417379:exon10:c.C2283T:p.A761A,ENSG00000181409:ENST00000326724:exon11:c.C2592T:p.A864A,ENSG00000181409:ENST00000374792:exon12:c.C2484T:p.A828A NA NA 17q25.3 NA Name=CTCF NA NA rs8073904 0.8 0.8 0.803 0.805312 0.8628 0.8611 0.634 0.795 0.8241 0.86 0.84 0.68 0.76 0.8247 0.87 . . . . . . . . 0.000 P . . . . -1.098 T 0.000 T . -0.86 0.526 -8.95 -4.297 -8.005 4.398 -0.859811 NA NA 0.871056 0.81019 NA 0.768 NA 8.1081106 841 6 25776949 25776949 G A exonic SLC17A4 NA nonsynonymous SNV SLC17A4:NM_005495:exon9:c.G1114A:p.A372T exonic ENSG00000146039 NA nonsynonymous SNV ENSG00000146039:ENST00000439485:exon4:c.G424A:p.A142T,ENSG00000146039:ENST00000397076:exon5:c.G424A:p.A142T,ENSG00000146039:ENST00000377905:exon9:c.G1114A:p.A372T NA Name=Cardiovascular disease risk factors 6p22.2 NA NA NA NA rs11754288 0.24 0.24 0.242 0.259984 0.4205 0.1726 0.2781 0.053 0.4519 0.42 0.15 0.3 0.04 0.3671 0.44 0.36 T 0.178 B 0.155 B 0.078 N 1.000 P 0.115 N 0.31 T -1.064 T 0.038 T 0.102 3.615 18.4 -2.34 -0.335 0.261 4.082 3.61505 3.61505 0.33 0.439651 0.111212 NA 0.275 NA 8.1060824 841 6 26200083 26200083 A G exonic HIST1H2BF NA synonymous SNV HIST1H2BF:NM_003522:exon1:c.A297G:p.V99V exonic ENSG00000197846 NA synonymous SNV ENSG00000197846:ENST00000359985:exon1:c.A297G:p.V99V Score=662;Name=lod=652 NA 6p22.2 NA Name=HEY1,CCNT2,Pol2,GATA3_(SC-268),Pol2-4H8,GATA-2,HA-E2F1,ETS1,ZBTB33 Name=66 Score=56;Name=2017098_1_-_56 rs1059486 0.62 0.62 0.576 0.649561 0.5089 0.9187 0.6066 0.5325 0.7055 0.49 0.93 0.59 0.5 0.5702 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244025 1.244025 NA 0.482442 0.503177 NA 0.493 NA 8.1051246 841 20 47865509 47865509 G A exonic ZNFX1 NA nonsynonymous SNV ZNFX1:NM_021035:exon14:c.C4052T:p.T1351I exonic ENSG00000124201 NA nonsynonymous SNV ENSG00000124201:ENST00000371752:exon14:c.C4052T:p.T1351I,ENSG00000124201:ENST00000396105:exon14:c.C4052T:p.T1351I NA NA 20q13.13 Score=689;Name=V$PPARG_02 NA NA NA rs238209 0.64 0.64 0.636 0.59984 0.7634 0.5278 0.6412 0.5053 0.6043 0.75 0.52 0.67 0.59 0.6951 0.77 0.73 T 0.0 B 0.0 B 0.062 N 0.374 P -0.155 N -2.16 D -0.954 T 0.000 T 0.018 -1.472 0.018 0.723 -0.099 1.379 5.609 -1.472392 NA 1 0.769767 0.532683 NA 0.616 NA 8.1050664 842 17 42084067 42084067 T C exonic NAGS NA synonymous SNV NAGS:NM_153006:exon4:c.T1086C:p.F362F exonic ENSG00000161653 NA synonymous SNV ENSG00000161653:ENST00000293404:exon4:c.T1086C:p.F362F,ENSG00000161653:ENST00000589767:exon4:c.T993C:p.F331F Score=451;Name=lod=91 NA 17q21.31 NA Name=Pol2,E2F6,E2F6_(H-50),HMGN3,CEBPB,Max Name=148 NA rs55708447 0.11 0.11 0.113 0.106829 0.2097 0.0139 0.111 0.0915 0.1145 0.2 0.02 0.13 0.08 0.1678 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.619031 1.619031 NA 0.18492 0.09575 NA 0.043 NA 8.1042466 842 8 12878807 12878807 T G exonic KIAA1456 NA nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.T241G:p.C81G,KIAA1456:NM_020844:exon5:c.T619G:p.C207G exonic ENSG00000250305 NA nonsynonymous SNV ENSG00000250305:ENST00000524591:exon5:c.T619G:p.C207G NA NA 8p22 NA NA NA NA rs3739310 0.7 0.7 0.663 0.64996 0.7714 0.7798 0.7262 0.4614 0.592 0.76 0.77 0.73 0.49 0.7095 0.77 0.44 T 0.0 B 0.0 B 0.546 N 1.000 P 1.935 M 2.97 T -0.954 T 0.000 T 0.093 1.446 10.78 -6.48 -0.657 -1.528 1.675 1.446493 1.446493 0.54 0.748368 0.508128 NA 0.572 NA 8.1040654 842 19 8176640 8176640 C T exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon31:c.G3976A:p.V1326I exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon31:c.G3976A:p.V1326I,ENSG00000142449:ENST00000600128:exon32:c.G3976A:p.V1326I,ENSG00000142449:ENST00000601739:exon32:c.G3976A:p.V1326I NA NA 19p13.2 NA NA NA NA rs12975322 0.31 0.31 0.277 0.282748 0.2326 0.4206 0.3905 0.2322 0.184 0.24 0.43 0.35 0.26 0.2565 0.43 0.19 T 0.557 P 0.102 B 0.105 U 1.000 P -0.325 N -2.22 D -0.977 T 0.000 T 0.019 0.759 8.02 1.72 0.131 -0.922 6.808 0.759456 NA 0.54 0.24186 0.255561 ID=COSM1397731;OCCURENCE=1(large_intestine) 0.254 NA 8.1023734 842 2 241622209 241622209 T C exonic AQP12B NA nonsynonymous SNV AQP12B:NM_001102467:exon1:c.A46G:p.T16A exonic ENSG00000185176 NA nonsynonymous SNV ENSG00000185176:ENST00000407834:exon1:c.A46G:p.T16A Score=304;Name=lod=23 NA 2q37.3 Score=847;Name=V$TAL1BETAE47_01 NA NA NA rs4081908 0.63 0.63 0.61 0.694688 0.7694 0.5069 0.8357 0.7579 0.6258 0.66 0.49 0.75 0.63 0.7088 0.75 . . 0.0 B 0.0 B 0.283 N 1.000 P . . 2.83 T -1.071 T 0.000 T 0.027 -1.577 0.014 2.25 0.122 0.034 5.883 -1.576585 NA 1 0.754629 0.720737 NA 0.268 NA 8.1005044 842 5 79029726 79029726 T A exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.T5138A:p.I1713N exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.T5138A:p.I1713N NA NA 5q14.1 NA NA NA NA rs16877141 0.21 0.21 0.246 0.183107 0.0596 0.3621 0.0476 0.2821 0.0879 0.06 0.41 0.04 0.34 0.1077 0.41 0.04 D 0.119 B 0.025 B . . 1.000 P 0.69 N 0.81 T -0.946 T 0.000 T 0.206 1.289 10.22 0.472 0.322 -0.191 4.437 1.288914 1.288914 0.01 0.065642 0.228004 NA 0.217 NA 8.1003914 842 19 56717353 56717353 A G intergenic ZSCAN5B,ZSCAN5A dist=12932;dist=15326 NA NA exonic ENSG00000204532 NA nonsynonymous SNV ENSG00000204532:ENST00000376267:exon1:c.A71G:p.Q24R,ENSG00000204532:ENST00000534327:exon2:c.A71G:p.Q24R NA NA 19q13.43 NA NA NA NA rs10419548 0.44 0.44 0.399 0.45627 0.3549 0.4702 0.402 0.6127 0.3732 0.35 0.47 0.36 0.58 0.3785 0.58 0.74 T . . . . . . 1.000 P . . 3.35 T -0.944 T 0.000 T 0.028 -2.585 0 -2.57 -2.591 -3.702 0.530 -2.584802 NA 1 NA NA NA 0.529 NA 8.0999334 842 4 47839929 47839929 C T exonic CORIN NA nonsynonymous SNV CORIN:NM_006587:exon1:c.G38A:p.C13Y exonic ENSG00000145244 NA nonsynonymous SNV ENSG00000145244:ENST00000273857:exon1:c.G38A:p.C13Y,ENSG00000145244:ENST00000502252:exon1:c.G38A:p.C13Y,ENSG00000145244:ENST00000504584:exon1:c.G38A:p.C13Y,ENSG00000145244:ENST00000505909:exon1:c.G38A:p.C13Y NA NA 4p12 NA NA NA NA rs2289433 0.71 0.71 0.701 0.69349 0.7495 0.6875 0.7363 0.5749 0.772 0.77 0.72 0.75 0.58 0.7369 0.77 0.87 T 0.0 B 0.0 B 0.353 N 1.000 P -0.55 N -2.36 D -1.028 T 0.000 T 0.025 -1.449 0.019 -4.22 -1.322 -0.870 7.196 -1.448693 NA 1 0.748023 0.621652 NA 0.732 NA 8.0989104 842 3 191093175 191093175 T A exonic CCDC50 NA nonsynonymous SNV CCDC50:NM_178335:exon6:c.T773A:p.I258N exonic ENSG00000152492 NA nonsynonymous SNV ENSG00000152492:ENST00000392456:exon6:c.T773A:p.I258N NA NA 3q28 NA NA NA NA rs2028574 0.5 0.5 0.513 0.501597 0.4105 0.4702 0.4683 0.7231 0.3517 0.42 0.44 0.46 0.72 0.4284 0.72 0.76 T 0.0 B 0.0 B 0.157 N 1.000 P . . 1.66 T -0.946 T 0.000 T 0.017 -2.181 0.005 -3.51 -0.512 -0.452 0.270 -2.181485 NA 0.73 0.395814 0.670676 NA 0.464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041448.1;CLNDSDB=.;CLNDSDBID=. 8.0986194 842 8 23423697 23423697 G A exonic SLC25A37 NA nonsynonymous SNV SLC25A37:NM_016612:exon2:c.G287A:p.R96Q exonic ENSG00000147454 NA nonsynonymous SNV ENSG00000147454:ENST00000290075:exon2:c.G287A:p.R96Q,ENSG00000147454:ENST00000417331:exon2:c.G287A:p.R96Q,ENSG00000147454:ENST00000519973:exon2:c.G287A:p.R96Q,ENSG00000147454:ENST00000523930:exon2:c.G230A:p.R77Q Score=518;Name=lod=170 NA 8p21.2 NA NA NA NA rs3736032 0.13 0.13 0.133 0.147764 0.0716 0.1607 0.0533 0.2345 0.1626 0.07 0.16 0.06 0.23 0.0938 0.23 0.23 T 0.055 B 0.014 B 0.015 N 0.181 P 1.48 L -1.3 T -1.110 T 0.000 T 0.159 2.871 15.56 0.223 -0.019 0.052 6.666 2.87092 2.87092 0.12 0.069448 0.210498 NA 0.109 NA 8.0984854 842 17 39240661 39240661 C G exonic KRTAP4-7 NA nonsynonymous SNV KRTAP4-7:NM_033061:exon1:c.C203G:p.T68S exonic ENSG00000240871 NA nonsynonymous SNV ENSG00000240871:ENST00000391417:exon1:c.C203G:p.T68S NA NA 17q21.2 NA NA NA NA rs11650484 0.59 0.59 0.654 0.644768 0.6203 0.4177 0.634 0.9433 0.5082 0.57 0.38 0.6 0.87 0.6155 0.87 1 T 0.0 B 0.0 B 0.001 N 1.000 P . . 5.16 T -1.010 T 0.000 T 0.065 -2.356 0.004 -3.84 -0.884 -2.567 3.948 -2.356434 NA 1 NA NA NA 0.036 NA 8.0975334 842 19 9048342 9048342 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon5:c.G33289A:p.V11097M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon5:c.G33289A:p.V11097M NA NA 19p13.2 NA NA NA NA rs10854118 0.43 0.43 0.426 0.438498 0.4245 0.497 0.4092 0.4062 0.4571 0.42 0.49 0.41 0.37 0.4104 0.49 0 D 0.006 B 0.009 B . . . . 1.06 L 4.14 T -0.957 T 0.000 T 0.009 0.052 4.287 -0.543 -0.200 -5.431 2.210 0.052413 NA 0.03 0.400942 0.40146 ID=COSM148477,COSM148478;OCCURENCE=1(stomach) 0.391 NA 8.0974914 842 7 21932044 21932044 C T exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon77:c.C12509T:p.T4170I exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000409508:exon77:c.C12509T:p.T4170I,ENSG00000105877:ENST00000328843:exon78:c.C12530T:p.T4177I Score=395;Name=lod=54 NA 7p15.3 NA NA NA NA rs12537531 0.37 0.37 0.35 0.368411 0.4245 0.4673 0.3026 0.2511 0.4141 0.43 0.44 0.32 0.21 0.3979 0.44 0.36 T 0.0 B 0.001 B 0.221 N 1.000 P . . 3.36 T -0.936 T 0.000 T 0.063 0.651 7.494 0.875 -0.034 1.474 6.494 0.651356 NA 1 0.413515 0.270534 NA 0.377 NA 8.0974184 842 5 1065399 1065399 C T exonic SLC12A7 NA synonymous SNV SLC12A7:NM_006598:exon18:c.G2436A:p.V812V exonic ENSG00000113504 NA synonymous SNV ENSG00000113504:ENST00000264930:exon18:c.G2436A:p.V812V NA NA 5p15.33 NA NA NA NA rs737154 0.56 0.56 0.524 0.554513 0.5288 0.627 0.5749 0.5136 0.547 0.51 0.65 0.57 0.51 0.5332 0.65 . . . . . . . . 0.000 P . . . . -0.980 T 0.000 T . 0.511 6.771 -8.98 -2.135 -2.628 3.252 0.51117 NA NA 0.507442 0.50749 ID=COSM448402;OCCURENCE=1(breast) 0.536 NA 8.0972246 842 6 170033086 170033086 G A exonic WDR27 NA nonsynonymous SNV WDR27:NM_001202550:exon18:c.C1799T:p.A600V,WDR27:NM_182552:exon21:c.C2180T:p.A727V exonic ENSG00000184465 NA nonsynonymous SNV ENSG00000184465:ENST00000423258:exon18:c.C1799T:p.A600V,ENSG00000184465:ENST00000333572:exon21:c.C2180T:p.A727V,ENSG00000184465:ENST00000448612:exon21:c.C2180T:p.A727V NA NA 6q27 NA NA NA NA rs9396946 0.22 0.22 0.195 0.214257 0.0537 0.5923 0.2709 0.0885 0.1196 0.05 0.57 0.23 0.08 0.1358 0.57 0.65 T 0.231 B 0.04 B 0.052 N 1.000 P 1.155 L 1.79 T -1.028 T 0.024 T 0.056 0.182 4.979 3.24 0.498 0.849 4.807 0.181869 NA 0.35 0.04801 0.081758 NA 0.116 NA 8.0958234 842 11 56310222 56310222 C T exonic OR5M11 NA nonsynonymous SNV OR5M11:NM_001005245:exon1:c.G512A:p.S171N exonic ENSG00000255223 NA nonsynonymous SNV ENSG00000255223:ENST00000528616:exon1:c.G512A:p.S171N Score=469;Name=lod=107 NA 11q12.1 Score=826;Name=V$FOXO3_01 NA NA NA rs628524 0.68 0.68 0.658 0.69389 0.7455 0.875 0.7651 0.3608 0.8538 0.73 0.87 0.78 0.29 0.7449 0.87 1 T 0.0 B 0.001 B . . 1.000 P -2.71 N 9.04 T -1.000 T 0.000 T 0.012 -0.688 1.011 3.98 0.447 -0.108 8.636 -0.688012 NA 1 0.747576 0.439532 NA 0.674 NA 8.0953574 843 12 54767812 54767812 G A exonic ZNF385A NA synonymous SNV ZNF385A:NM_015481:exon3:c.C306T:p.D102D,ZNF385A:NM_001130967:exon4:c.C366T:p.D122D,ZNF385A:NM_001130968:exon4:c.C366T:p.D122D exonic ENSG00000161642 NA synonymous SNV ENSG00000161642:ENST00000550120:exon2:c.C195T:p.D65D,ENSG00000161642:ENST00000394313:exon3:c.C306T:p.D102D,ENSG00000161642:ENST00000549937:exon3:c.C252T:p.D84D,ENSG00000161642:ENST00000549962:exon3:c.C255T:p.D85D,ENSG00000161642:ENST00000550779:exon3:c.C261T:p.D87D,ENSG00000161642:ENST00000551771:exon3:c.C306T:p.D102D,ENSG00000161642:ENST00000338010:exon4:c.C366T:p.D122D,ENSG00000161642:ENST00000352268:exon4:c.C366T:p.D122D,ENSG00000161642:ENST00000546919:exon4:c.C306T:p.D102D,ENSG00000161642:ENST00000547210:exon4:c.C306T:p.D102D,ENSG00000161642:ENST00000550774:exon4:c.C306T:p.D102D,ENSG00000161642:ENST00000551109:exon4:c.C306T:p.D102D,ENSG00000161642:ENST00000546970:exon5:c.C306T:p.D102D Score=391;Name=lod=52 NA 12q13.13 NA Name=TCF4 Name=2 NA rs2887875 0.21 0.21 0.184 0.240016 0.165 0.3075 0.3674 0.1029 0.3425 0.17 0.27 0.32 0.13 0.2296 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689075 NA NA 0.178372 0.129369 NA 0.13 NA 8.0936946 843 17 4875628 4875628 A G exonic CAMTA2 NA nonsynonymous SNV CAMTA2:NM_001171166:exon15:c.T2713C:p.S905P,CAMTA2:NM_001171168:exon15:c.T2704C:p.S902P,CAMTA2:NM_001171167:exon16:c.T2776C:p.S926P,CAMTA2:NM_015099:exon16:c.T2707C:p.S903P exonic ENSG00000108509 NA nonsynonymous SNV ENSG00000108509:ENST00000361571:exon15:c.T2704C:p.S902P,ENSG00000108509:ENST00000381311:exon15:c.T2713C:p.S905P,ENSG00000108509:ENST00000348066:exon16:c.T2707C:p.S903P,ENSG00000108509:ENST00000358183:exon16:c.T2707C:p.S903P,ENSG00000108509:ENST00000414043:exon16:c.T2776C:p.S926P,ENSG00000108509:ENST00000572543:exon16:c.T2722C:p.S908P Score=446;Name=lod=87 NA 17p13.2 NA NA NA NA rs16942615 0.08 0.08 0.063 0.091254 0.0835 0.0486 0.1326 0.1316 0.0593 0.08 0.05 0.1 0.11 0.0838 0.13 0.83 T 0.001 B 0.0 B 0.230 N 0.420 P -0.205 N 0.8 T -1.023 T 0.001 T 0.057 0.039 4.219 0.446 -0.104 -0.137 7.909 0.039495 NA 0.02 0.074302 0.118248 NA 0.181 NA 8.0917314 843 17 78091405 78091405 G A exonic GAA NA nonsynonymous SNV GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I exonic ENSG00000171298 NA nonsynonymous SNV ENSG00000171298:ENST00000302262:exon17:c.G2338A:p.V780I,ENSG00000171298:ENST00000390015:exon18:c.G2338A:p.V780I NA NA 17q25.3 NA NA NA NA rs1126690 0.69 0.69 0.712 0.711861 0.7624 0.6498 0.5519 0.7156 0.8323 0.76 0.66 0.57 0.72 0.7296 0.76 0.48 T 0.001 B 0.003 B 0.508 N 1.000 P 0.55 N -2.58 D -0.975 T 0.000 T 0.058 -0.878 0.485 -2.09 -0.561 -0.389 5.965 -0.878283 NA 0.49 0.749884 0.700635 NA 0.703 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078171.2;CLNDSDB=.;CLNDSDBID=. 8.0914494 843 4 39064162 39064162 A C exonic KLHL5 NA nonsynonymous SNV KLHL5:NM_015990:exon1:c.A28C:p.I10L,KLHL5:NM_199039:exon1:c.A28C:p.I10L exonic ENSG00000109790 NA nonsynonymous SNV ENSG00000109790:ENST00000261426:exon1:c.A28C:p.I10L,ENSG00000109790:ENST00000359687:exon1:c.A28C:p.I10L,ENSG00000109790:ENST00000381930:exon1:c.A28C:p.I10L,ENSG00000109790:ENST00000504108:exon1:c.A28C:p.I10L Score=781;Name=lod=1992 NA 4p14 NA NA Name=27 NA rs2711941 0.76 0.76 0.735 0.736422 0.7465 0.8274 0.7882 0.6104 0.7658 0.75 0.84 0.82 0.63 0.7502 0.84 1 T 0.0 B 0.0 B 0.180 N 0.000 P 0 N -0.32 T -0.940 T 0.000 T 0.039 -0.469 1.835 3.13 0.581 0.818 4.554 -0.468826 NA 0.42 0.746977 0.651838 NA 0.601 NA 8.0896564 843 22 42538509 42538509 G A ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN NA NA 22q13.2 NA NA NA NA rs3021081 0.36 0.36 0.07 0.389377 0.2952 0.5694 0.2305 0.4894 0.2781 0.27 0.51 0.3 0.39 0.4495 0.51 0 D . . . . . . 1.000 P . . . . -0.940 T 0.000 T 0.119 1.8 11.98 -3.71 -0.757 -1.974 4.537 1.799678 1.799678 NA NA NA NA NA NA 8.0886333 843 5 149212471 149212471 G A exonic PPARGC1B NA nonsynonymous SNV PPARGC1B:NM_001172698:exon4:c.G718A:p.V240I,PPARGC1B:NM_001172699:exon4:c.G643A:p.V215I,PPARGC1B:NM_133263:exon5:c.G835A:p.V279I exonic ENSG00000155846 NA nonsynonymous SNV ENSG00000155846:ENST00000360453:exon4:c.G718A:p.V240I,ENSG00000155846:ENST00000403750:exon4:c.G643A:p.V215I,ENSG00000155846:ENST00000309241:exon5:c.G835A:p.V279I,ENSG00000155846:ENST00000394320:exon5:c.G835A:p.V279I NA NA 5q32 NA NA NA NA rs17572019 0.07 0.07 0.05 0.0658946 0.0805 0.0625 0.1254 0.0242 0.0685 0.07 0.06 0.12 0.02 0.0817 0.12 0.51 T 0.034 B 0.032 B 0.218 N 1.000 P 1.1 L 3.09 T -0.956 T 0.000 T 0.032 0.142 4.765 -1.71 -0.150 1.132 3.399 0.142296 NA 0.11 0.083391 0.02837 NA 0.065 NA 8.0877424 843 19 39923952 39923952 G A exonic RPS16 NA synonymous SNV RPS16:NM_001020:exon5:c.C402T:p.G134G exonic ENSG00000105193 NA synonymous SNV ENSG00000105193:ENST00000251453:exon5:c.C402T:p.G134G,ENSG00000105193:ENST00000601655:exon5:c.C351T:p.G117G Score=597;Name=lod=355 NA 19q13.2 Score=846;Name=V$ZID_01 Name=p300,SP1,CTCF_(SC-5916) NA NA rs17627 0.22 0.22 0.227 0.240815 0.1839 0.0764 0.1801 0.4501 0.229 0.19 0.07 0.22 0.45 0.2104 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381879 NA NA 0.186628 0.39764 NA 0.232 NA 8.0857386 844 6 26124634 26124634 C T exonic HIST1H2AC NA synonymous SNV HIST1H2AC:NM_003512:exon1:c.C174T:p.Y58Y exonic ENSG00000180573 NA synonymous SNV ENSG00000180573:ENST00000314088:exon1:c.C174T:p.Y58Y,ENSG00000180573:ENST00000377791:exon1:c.C174T:p.Y58Y,ENSG00000180573:ENST00000602637:exon1:c.C174T:p.Y58Y Score=713;Name=lod=1051 NA 6p22.2 NA Name=CCNT2,ELF1_(SC-631),HEY1,ZEB1_(SC-25388),NFKB,PAX5-C20,Pol2,NRSF,Pol2(phosphoS2),HA-E2F1,E2F6,Pol2-4H8,GATA-1,TAF1,E2F4,HMGN3 NA Score=119;Name=2017010_1_-_119 rs4645 0.1 0.1 0.088 0.0802716 0.2127 0.0139 0.1066 0.0076 0.092 0.22 0.01 0.1 0.01 0.1528 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.616484 1.616484 NA 0.216628 0.047208 NA 0.167 NA 8.0845386 844 7 97488569 97488569 A T exonic ASNS NA nonsynonymous SNV ASNS:NM_001178076:exon3:c.T380A:p.V127E,ASNS:NM_001178077:exon3:c.T380A:p.V127E,ASNS:NM_001178075:exon5:c.T566A:p.V189E,ASNS:NM_001673:exon5:c.T629A:p.V210E,ASNS:NM_133436:exon5:c.T629A:p.V210E,ASNS:NM_183356:exon6:c.T629A:p.V210E exonic ENSG00000070669 NA nonsynonymous SNV ENSG00000070669:ENST00000437628:exon3:c.T380A:p.V127E,ENSG00000070669:ENST00000455086:exon3:c.T380A:p.V127E,ENSG00000070669:ENST00000422745:exon4:c.T566A:p.V189E,ENSG00000070669:ENST00000454046:exon4:c.T629A:p.V210E,ENSG00000070669:ENST00000394308:exon5:c.T629A:p.V210E,ENSG00000070669:ENST00000394309:exon5:c.T629A:p.V210E,ENSG00000070669:ENST00000442734:exon5:c.T629A:p.V210E,ENSG00000070669:ENST00000444334:exon5:c.T566A:p.V189E,ENSG00000070669:ENST00000175506:exon6:c.T629A:p.V210E Score=389;Name=lod=51 NA 7q21.3 NA NA NA NA rs1049674 0.85 0.85 0.852 0.875998 0.7247 0.9137 0.8271 0.9834 0.8824 0.72 0.91 0.83 0.98 0.7948 0.98 0.4 T 0.0 B 0.0 B 0.000 N 0.999 P -0.805 N 1.05 T -1.003 T 0.000 T 0.32 -1.303 0.037 3.04 0.636 4.408 6.375 -1.302928 NA 0.27 0.730233 0.938493 NA 0.935 NA 8.0836004 844 6 41029109 41029109 T C exonic APOBEC2 NA synonymous SNV APOBEC2:NM_006789:exon2:c.T174C:p.N58N exonic ENSG00000124701 NA synonymous SNV ENSG00000124701:ENST00000244669:exon2:c.T174C:p.N58N Score=561;Name=lod=253 NA 6p21.1 Score=809;Name=V$STAT1_01 NA Name=9 NA rs2073014 0.17 0.17 0.147 0.184305 0.168 0.2669 0.2305 0.0333 0.2873 0.17 0.25 0.22 0.03 0.2147 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.153838 NA NA 0.203256 0.070813 NA 0.08 NA 8.0807106 844 19 14580328 14580328 A G exonic PKN1 NA nonsynonymous SNV PKN1:NM_002741:exon16:c.A2152G:p.I718V,PKN1:NM_213560:exon16:c.A2170G:p.I724V exonic ENSG00000123143 NA nonsynonymous SNV ENSG00000123143:ENST00000591461:exon4:c.A364G:p.I122V,ENSG00000123143:ENST00000242783:exon16:c.A2152G:p.I718V,ENSG00000123143:ENST00000342216:exon16:c.A2170G:p.I724V NA NA 19p13.12 NA NA NA NA rs2230539 0.16 0.16 0.159 0.189497 0.0775 0.1052 0.1657 0.4501 0.0562 0.06 0.12 0.15 0.38 0.1094 0.38 1 T 0.0 B 0.0 B 0.025 N 0.000 P 0.505 N 1.89 T -0.946 T 0.000 T 0.048 -1.986 0.007 -2.14 -0.395 -0.587 8.564 -1.985745 NA 1 0.065833 0.366667 NA 0.203 NA 8.0806004 844 5 1244425 1244425 C T exonic SLC6A18 NA nonsynonymous SNV SLC6A18:NM_182632:exon10:c.C1433T:p.P478L exonic ENSG00000164363 NA nonsynonymous SNV ENSG00000164363:ENST00000296821:exon9:c.C1127T:p.P376L,ENSG00000164363:ENST00000324642:exon10:c.C1433T:p.P478L Score=284;Name=lod=19 NA 5p15.33 NA NA NA NA rs4073918 0.67 0.67 0.675 0.676118 0.7744 0.2728 0.696 0.9009 0.6728 0.77 0.28 0.73 0.91 0.7171 0.91 0.66 T 0.001 B 0.001 B 0.022 N 0.779 P -1.945 N -0.64 T -0.959 T 0.000 T 0.183 -0.811 0.647 4.87 0.722 4.148 8.429 -0.810981 NA 0.86 0.76407 0.863141 NA 0.725 NA 8.0777634 844 1 183187603 183187603 C T exonic LAMC2 NA synonymous SNV LAMC2:NM_005562:exon4:c.C483T:p.V161V,LAMC2:NM_018891:exon4:c.C483T:p.V161V exonic ENSG00000058085 NA synonymous SNV ENSG00000058085:ENST00000264144:exon4:c.C483T:p.V161V,ENSG00000058085:ENST00000493293:exon4:c.C483T:p.V161V Score=484;Name=lod=124 NA 1q25.3 Score=889;Name=V$TGIF_01 NA Name=19 NA rs1129723 0.29 0.29 0.273 0.313898 0.1571 0.3333 0.3184 0.4024 0.3323 0.17 0.34 0.29 0.41 0.2566 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452169 1.452169 NA 0.176512 0.381979 NA 0.232 NA 8.0764546 844 17 55183792 55183792 G A exonic AKAP1 NA nonsynonymous SNV AKAP1:NM_003488:exon2:c.G967A:p.G323S,AKAP1:NM_001242902:exon3:c.G967A:p.G323S,AKAP1:NM_001242903:exon3:c.G967A:p.G323S exonic ENSG00000121057 NA nonsynonymous SNV ENSG00000121057:ENST00000314126:exon2:c.G967A:p.G323S,ENSG00000121057:ENST00000337714:exon2:c.G967A:p.G323S,ENSG00000121057:ENST00000481416:exon2:c.G967A:p.G323S,ENSG00000121057:ENST00000539273:exon2:c.G967A:p.G323S,ENSG00000121057:ENST00000572557:exon2:c.G967A:p.G323S,ENSG00000121057:ENST00000571629:exon3:c.G967A:p.G323S NA NA 17q22 NA NA NA NA rs35359994 0.04 0.04 0.012 0.0483227 0.1133 0.006 0.0432 0.0189 0.0685 0.08 0.01 0.03 0.01 0.0735 0.08 0.32 T 0.023 B 0.004 B . . 1.000 N 0 N 2.24 T -0.977 T 0.001 T 0.082 0.837 8.381 -0.285 0.202 -1.247 3.776 0.837457 NA 0 0.070581 0.018838 NA NA NA 8.0759524 844 11 5688940 5688940 C T exonic TRIM5 NA nonsynonymous SNV TRIM5:NM_033034:exon5:c.G746A:p.G249D,TRIM5:NM_033092:exon5:c.G746A:p.G249D,TRIM5:NM_033093:exon5:c.G746A:p.G249D exonic ENSG00000132256 NA nonsynonymous SNV ENSG00000132256:ENST00000380034:exon5:c.G746A:p.G249D,ENSG00000132256:ENST00000396847:exon5:c.G746A:p.G249D,ENSG00000132256:ENST00000396855:exon5:c.G746A:p.G249D,ENSG00000132256:ENST00000380027:exon8:c.G746A:p.G249D Score=284;Name=lod=19 NA 11p15.4 NA NA NA NA rs11038628 0.24 0.24 0.24 0.245208 0.0586 0.4256 0.2291 0.3124 0.1718 0.06 0.42 0.2 0.33 0.1411 0.42 1 T 0.001 B 0.003 B 0.000 N 0.000 P -0.48 N 3.76 T -0.909 T 0.000 T 0.387 -1.197 0.074 1.31 0.279 -0.094 4.658 -1.197052 NA 1 0.058413 0.254884 NA 0.181 NA 8.0752204 845 14 25102160 25102160 C T exonic GZMB NA nonsynonymous SNV GZMB:NM_004131:exon2:c.G164A:p.R55Q exonic ENSG00000100453 NA nonsynonymous SNV ENSG00000100453:ENST00000216341:exon2:c.G164A:p.R55Q,ENSG00000100453:ENST00000382540:exon2:c.G164A:p.R55Q,ENSG00000100453:ENST00000382542:exon2:c.G266A:p.R89Q,ENSG00000100453:ENST00000415355:exon2:c.G128A:p.R43Q,ENSG00000100453:ENST00000526004:exon2:c.G164A:p.R55Q,ENSG00000100453:ENST00000554242:exon2:c.G164A:p.R55Q NA Name=Vitiligo 14q12 Score=794;Name=V$CDPCR3_01 NA NA NA rs8192917 0.71 0.71 0.685 0.680711 0.7525 0.7133 0.781 0.5605 0.6646 0.75 0.76 0.77 0.58 0.7476 0.77 0.32 T 0.344 B 0.027 B 0.588 N 1.000 P -0.02 N 1.57 T -0.938 T 0.000 T 0.137 2.78 15.26 -1.15 -0.100 -1.293 8.534 2.780393 2.780393 0.33 0.763605 0.595098 NA 0.703 NA 8.0696284 845 12 56115585 56115585 C T exonic RDH5 NA synonymous SNV RDH5:NM_001199771:exon3:c.C423T:p.I141I,RDH5:NM_002905:exon3:c.C423T:p.I141I exonic ENSG00000135437 NA synonymous SNV ENSG00000135437:ENST00000257895:exon3:c.C423T:p.I141I,ENSG00000135437:ENST00000547072:exon3:c.C132T:p.I44I,ENSG00000135437:ENST00000548082:exon3:c.C423T:p.I141I,ENSG00000135437:ENST00000552930:exon3:c.C132T:p.I44I Score=512;Name=lod=160 NA 12q13.2 Score=942;Name=V$AP1FJ_Q2 NA Name=4 NA rs3138142 0.11 0.11 0.094 0.152756 0.1899 0.12 0.1023 0.0098 0.3773 0.19 0.08 0.09 0.02 0.1952 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670467 NA NA 0.212558 0.049705 NA 0.058 NA 8.0690086 845 2 233274475 233274475 C A exonic ALPPL2 NA nonsynonymous SNV ALPPL2:NM_031313:exon11:c.C1492A:p.R498S exonic ENSG00000163286 NA nonsynonymous SNV ENSG00000163286:ENST00000295453:exon11:c.C1492A:p.R498S NA NA 2q37.1 NA NA NA NA rs56080708 0.11 0.11 0.081 0.0952476 0.0785 0.2133 0.062 0.0514 0.0736 0.08 0.21 0.06 0.06 0.1021 0.21 0.91 T 0.001 B 0.002 B 0.142 N 1.000 P 0 N -3.7 D -0.946 T 0.001 T 0.023 -0.769 0.762 1.24 0.233 -0.511 4.207 -0.768825 NA 0.71 0.084434 0.075402 NA 0.036 NA 8.0682994 845 7 99954457 99954457 G T intergenic PMS2P1,PILRB dist=20527;dist=1169 NA NA exonic ENSG00000121716 NA synonymous SNV ENSG00000121716:ENST00000448382:exon5:c.G234T:p.G78G,ENSG00000121716:ENST00000455145:exon5:c.G234T:p.G78G NA NA 7q22.1 NA NA NA NA rs41280971 0.1 0.1 0.106 0.104832 0.1759 0.0278 0.1023 0.1074 0.1094 0.18 0.02 0.1 0.09 0.2568 0.18 . . . . . . . . 1.000 P . . . . . . . . . -1.141 0.109 -4.37 -1.252 -3.166 0.163 -1.14083 NA NA NA NA NA 0.123 NA 8.0673 845 7 100468284 100468284 A G exonic TRIP6 NA synonymous SNV TRIP6:NM_003302:exon6:c.A918G:p.V306V exonic ENSG00000087077 NA synonymous SNV ENSG00000087077:ENST00000200457:exon6:c.A918G:p.V306V Score=577;Name=lod=295 NA 7q22.1 NA NA NA NA rs1054391 0.57 0.57 0.568 0.560104 0.5149 0.8095 0.6513 0.3585 0.5573 0.51 0.81 0.62 0.36 0.5621 0.81 . . . . . . . . 0.000 P . . . . -1.020 T 0.000 T . 1.551 11.14 4.91 0.806 1.009 8.026 1.5509 1.5509 NA 0.523372 0.396051 ID=COSM1446714;OCCURENCE=1(large_intestine) 0.449 NA 8.0662946 846 10 90356598 90356598 A G exonic LIPJ NA nonsynonymous SNV LIPJ:NM_001010939:exon8:c.A628G:p.I210V exonic ENSG00000204022 NA nonsynonymous SNV ENSG00000204022:ENST00000371939:exon8:c.A628G:p.I210V NA NA 10q23.31 NA NA NA NA rs1409136 0.88 0.88 0.902 0.892572 0.7505 0.994 0.8487 0.9788 0.8487 0.75 0.99 0.84 0.97 0.7994 0.99 0.27 T 0.0 B 0.008 B 0.161 N 1.000 P -0.67 N 0.04 T -0.994 T 0.000 T 0.005 -0.622 1.239 -8.23 -2.506 -6.308 4.417 -0.622008 NA 0.36 0.719325 0.926658 NA 0.877 NA 8.0641084 846 11 60565921 60565921 C T exonic MS4A10 NA nonsynonymous SNV MS4A10:NM_206893:exon7:c.C656T:p.P219L exonic ENSG00000172689 NA nonsynonymous SNV ENSG00000172689:ENST00000308287:exon7:c.C656T:p.P219L NA NA 11q12.2 NA NA NA NA rs12419635 0.05 0.05 0.054 0.0571086 0.0964 0.001 0.0548 0.0666 0.0634 0.09 0.0017 0.06 0.05 0.0771 0.096 0.05 D 0.035 B 0.004 B . . 1.000 P 0.55 N 1.86 T -1.044 T 0.001 T 0.023 0.859 8.476 0.925 0.260 -0.094 4.363 0.858621 NA 0.05 0.096418 0.053563 NA 0.029 NA 8.0634154 846 17 3352309 3352309 T C exonic SPATA22 NA nonsynonymous SNV SPATA22:NM_001170696:exon5:c.A335G:p.Q112R,SPATA22:NM_001170695:exon6:c.A464G:p.Q155R,SPATA22:NM_001170697:exon6:c.A464G:p.Q155R,SPATA22:NM_001170698:exon6:c.A464G:p.Q155R,SPATA22:NM_001170699:exon6:c.A464G:p.Q155R,SPATA22:NM_032598:exon6:c.A464G:p.Q155R exonic ENSG00000141255 NA nonsynonymous SNV ENSG00000141255:ENST00000574797:exon4:c.A251G:p.Q84R,ENSG00000141255:ENST00000355380:exon5:c.A335G:p.Q112R,ENSG00000141255:ENST00000571607:exon5:c.A251G:p.Q84R,ENSG00000141255:ENST00000268981:exon6:c.A464G:p.Q155R,ENSG00000141255:ENST00000397168:exon6:c.A464G:p.Q155R,ENSG00000141255:ENST00000541913:exon6:c.A416G:p.Q139R,ENSG00000141255:ENST00000571553:exon6:c.A251G:p.Q84R,ENSG00000141255:ENST00000572582:exon6:c.A464G:p.Q155R,ENSG00000141255:ENST00000572969:exon6:c.A464G:p.Q155R,ENSG00000141255:ENST00000573128:exon6:c.A464G:p.Q155R,ENSG00000141255:ENST00000574051:exon6:c.A425G:p.Q142R,ENSG00000141255:ENST00000575375:exon6:c.A464G:p.Q155R NA NA 17p13.2 Score=861;Name=V$HNF3B_01 NA NA NA rs11556563 0.22 0.22 0.184 0.171526 0.4523 0.002 0.2421 0.0643 0.1524 0.45 0.0035 0.27 0.06 0.3365 0.48 0.15 T 0.95 P 0.623 P 0.031 N 1.000 P 0.805 L 2.18 T -0.908 T 0.000 T 0.116 0.934 8.804 0.123 0.036 0.202 5.287 0.933511 NA 0.18 0.482791 0.137994 NA 0.13 NA 8.0617424 846 21 47836206 47836206 A C exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon30:c.A6374C:p.H2125P exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon30:c.A6374C:p.H2125P NA NA 21q22.3 NA NA NA NA rs35978208 0.16 0.16 0.156 0.178315 0.0924 0.005 0.0922 0.4864 0.09 0.1 0.01 0.1 0.47 0.1034 0.47 0.29 T 0.0 B 0.0 B 0.292 N 1.000 P -1.67 N 5.02 T -1.046 T 0.000 T 0.043 -1.371 0.026 3.54 0.550 0.331 5.418 -1.371222 NA 0.38 0.075814 0.432819 NA 0.196 NA 8.0617194 846 1 181759657 181759657 G A exonic CACNA1E NA nonsynonymous SNV CACNA1E:NM_001205294:exon43:c.G5806A:p.A1936T,CACNA1E:NM_000721:exon44:c.G5863A:p.A1955T,CACNA1E:NM_001205293:exon44:c.G5863A:p.A1955T exonic ENSG00000198216 NA nonsynonymous SNV ENSG00000198216:ENST00000358338:exon43:c.G5659A:p.A1887T,ENSG00000198216:ENST00000360108:exon43:c.G5806A:p.A1936T,ENSG00000198216:ENST00000526775:exon43:c.G5806A:p.A1936T,ENSG00000198216:ENST00000357570:exon44:c.G5716A:p.A1906T,ENSG00000198216:ENST00000367567:exon44:c.G4684A:p.A1562T,ENSG00000198216:ENST00000367570:exon44:c.G5863A:p.A1955T,ENSG00000198216:ENST00000367573:exon44:c.G5863A:p.A1955T NA NA 1q25.3 Score=766;Name=V$STAT5A_02 NA NA NA rs704326 0.36 0.36 0.348 0.276358 0.4314 0.3879 0.3242 0.1203 0.1789 0.44 0.44 0.38 0.12 0.3859 0.45 0.56 T 0.003 B 0.001 B 0.109 N 1.000 P -0.345 N -3.83 D -0.995 T 0.000 T 0.024 -0.522 1.618 -1.5 -0.148 0.331 11.663 -0.522134 NA 0.74 0.454501 0.1552 NA 0.384 NA 8.0615324 846 14 21770681 21770681 A G exonic RPGRIP1 NA synonymous SNV RPGRIP1:NM_020366:exon4:c.A525G:p.P175P exonic ENSG00000092200 NA synonymous SNV ENSG00000092200:ENST00000206660:exon4:c.A525G:p.P175P,ENSG00000092200:ENST00000400017:exon4:c.A525G:p.P175P,ENSG00000092200:ENST00000556336:exon4:c.A525G:p.P175P,ENSG00000092200:ENST00000557771:exon4:c.A525G:p.P175P NA NA 14q11.2 Score=855;Name=V$MZF1_02 Name=GR NA NA rs17792599 0.14 0.14 0.133 0.135383 0.1889 0.0933 0.1527 0.1362 0.1104 0.18 0.08 0.17 0.13 0.2273 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.245205 NA NA 0.18901 0.12287 NA 0.13 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086257.1;CLNDSDB=.;CLNDSDBID=. 8.0614566 846 19 9075565 9075565 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G11881A:p.E3961K exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G11881A:p.E3961K NA NA 19p13.2 NA NA NA NA rs17000836 0.16 0.16 0.15 0.159145 0.0845 0.2679 0.1095 0.1725 0.1411 0.09 0.3 0.1 0.15 0.1116 0.3 0 D 0.017 B 0.006 B . . . . 0.69 N 2.05 T -0.937 T 0.000 T 0.084 0.325 5.762 -1.97 -0.420 -0.306 5.534 0.325055 NA 0.06 0.076804 0.152972 NA 0.174 NA 8.0604294 846 18 21017835 21017835 C T UTR5 TMEM241 NM_032933:c.-19G>A NA NA UTR5 ENSG00000134490 ENST00000450466:c.-61025G>A,ENST00000581444:c.-19G>A,ENST00000473688:c.-19G>A,ENST00000477053:c.-19G>A,ENST00000383233:c.-19G>A,ENST00000460322:c.-19G>A,ENST00000578520:c.-19G>A,ENST00000482411:c.-19G>A,ENST00000497608:c.-19G>A,ENST00000582336:c.-19G>A,ENST00000580025:c.-19G>A,ENST00000399707:c.-19G>A NA NA NA NA 18q11.2 NA Name=E2F6,USF1_(SC-8983),Pol2,ATF3,SP1,USF2,HMGN3,TAF1,E2F6_(H-50),ELF1_(SC-631),Max,KAP1,ZNF263,c-Fos,Pol2-4H8,Sin3Ak-20,Ini1,IRF1,USF-1,ZEB1_(SC-25388),HEY1 Name=143 NA rs12967028 0.11 0.11 NA 0.0946486 0.1501 0.003 0.111 0.1135 0.0951 0.15 0.01 0.15 0.14 0.1236 0.15 0 D . . . . . . 1.000 P . . . . -1.028 T 0.001 T . 1.204 9.892 -1.3 -0.137 0.533 5.964 1.204423 NA NA NA NA NA NA NA 8.0596334 846 14 23282110 23282110 A G exonic SLC7A7 NA synonymous SNV SLC7A7:NM_001126105:exon3:c.T498C:p.I166I,SLC7A7:NM_001126106:exon3:c.T498C:p.I166I exonic ENSG00000155465 NA synonymous SNV ENSG00000155465:ENST00000397529:exon2:c.T498C:p.I166I,ENSG00000155465:ENST00000397532:exon2:c.T498C:p.I166I,ENSG00000155465:ENST00000556287:exon2:c.T498C:p.I166I,ENSG00000155465:ENST00000285850:exon3:c.T498C:p.I166I,ENSG00000155465:ENST00000397528:exon3:c.T498C:p.I166I,ENSG00000155465:ENST00000555702:exon3:c.T498C:p.I166I Score=538;Name=lod=204 NA 14q11.2 Score=870;Name=V$NCX_01 Name=NRSF,Rad21,CTCF,CTCF_(SC-5916),CTCF_(C-20) Name=7 NA rs8018462 0.61 0.61 0.583 0.582069 0.5189 0.7847 0.6758 0.4939 0.4908 0.52 0.79 0.67 0.48 0.5603 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.713081 2.713081 NA 0.528308 0.466591 NA 0.399 NA 8.0591586 846 17 1183464 1183464 A G exonic TUSC5 NA nonsynonymous SNV TUSC5:NM_172367:exon1:c.A169G:p.S57G exonic ENSG00000184811 NA nonsynonymous SNV ENSG00000184811:ENST00000333813:exon1:c.A169G:p.S57G Score=457;Name=lod=96 NA 17p13.3 NA NA NA NA rs6502776 0.79 0.79 0.755 0.780152 0.7495 0.8671 0.8761 0.6989 0.7638 0.74 0.9 0.85 0.68 0.7738 0.9 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.255 N 0.06 T -0.950 T 0.000 T 0.02 -0.379 2.217 4.41 0.680 3.482 9.698 -0.379221 NA 1 0.752721 0.719456 NA 0.761 NA 8.0573124 846 10 105363289 105363289 T C exonic SH3PXD2A NA synonymous SNV SH3PXD2A:NM_014631:exon14:c.A1602G:p.A534A exonic ENSG00000107957 NA synonymous SNV ENSG00000107957:ENST00000538130:exon9:c.A1191G:p.A397A,ENSG00000107957:ENST00000540321:exon9:c.A1287G:p.A429A,ENSG00000107957:ENST00000355946:exon14:c.A1602G:p.A534A,ENSG00000107957:ENST00000369774:exon15:c.A1686G:p.A562A Score=433;Name=lod=77 NA 10q24.33 NA NA NA NA rs3740471 0.15 0.15 0.138 0.135583 0.1998 0.1548 0.1628 0.0643 0.1268 0.21 0.17 0.15 0.04 0.1867 0.22 . . . . . . . . 0.000 P . . . . -1.021 T 0.000 T . -0.959 0.325 1.31 0.211 1.815 2.762 -0.959357 NA NA 0.223488 0.088289 NA 0.232 NA 8.0566786 846 19 9082514 9082514 C A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.G9301T:p.A3101S exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.G9301T:p.A3101S NA NA 19p13.2 NA NA NA NA rs17000871 0.16 0.16 0.157 0.172324 0.0855 0.2292 0.1167 0.2496 0.138 0.09 0.26 0.11 0.22 0.1152 0.26 0 D 0.026 B 0.012 B . . . . 0 N 4.22 T -0.890 T 0.000 T 0.03 -0.922 0.394 -1.08 -2.646 -0.707 . -0.922017 NA 0.16 0.076488 0.215711 NA 0.167 NA 8.0561454 847 3 183756702 183756702 G A exonic HTR3D NA nonsynonymous SNV HTR3D:NM_182537:exon6:c.G779A:p.R260H,HTR3D:NM_001145143:exon8:c.G1154A:p.R385H,HTR3D:NM_001163646:exon8:c.G1304A:p.R435H exonic ENSG00000186090 NA nonsynonymous SNV ENSG00000186090:ENST00000453435:exon4:c.G641A:p.R214H,ENSG00000186090:ENST00000334128:exon6:c.G779A:p.R260H,ENSG00000186090:ENST00000382489:exon8:c.G1304A:p.R435H,ENSG00000186090:ENST00000428798:exon8:c.G1154A:p.R385H NA NA 3q27.1 NA NA NA NA rs6789754 0.68 0.68 0.713 0.678514 0.5905 0.754 0.6455 0.8351 0.5031 0.59 0.75 0.6 0.8 0.6006 0.8 0.3 T 0.796 P 0.16 B 0.656 N 1.000 P 1.67 L -1.55 D -0.916 T 0.000 T 0.211 1.629 11.41 1.16 0.107 2.087 4.145 1.629459 1.629459 0.17 0.587326 0.783704 NA 0.768 NA 8.0549074 847 21 42812891 42812891 C T exonic MX1 NA synonymous SNV MX1:NM_001178046:exon7:c.C669T:p.I223I,MX1:NM_002462:exon9:c.C669T:p.I223I,MX1:NM_001144925:exon11:c.C669T:p.I223I exonic ENSG00000157601 NA synonymous SNV ENSG00000157601:ENST00000288383:exon5:c.C600T:p.I200I,ENSG00000157601:ENST00000455164:exon7:c.C669T:p.I223I,ENSG00000157601:ENST00000398598:exon9:c.C669T:p.I223I,ENSG00000157601:ENST00000398600:exon11:c.C669T:p.I223I Score=474;Name=lod=113 NA 21q22.3 Score=807;Name=V$FREAC4_01 NA Name=2 Score=97;Name=1472299_0_+_97 rs467960 0.36 0.36 0.357 0.354832 0.5706 0.1062 0.4424 0.3313 0.3589 0.55 0.08 0.46 0.34 0.4654 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.572954 1.572954 NA 0.576163 0.348616 NA 0.399 NA 8.0545036 847 16 25137449 25137449 A T intronic LCMT1 NA NA NA splicing ENSG00000205629 ENST00000380962:exon2:c.276+2A>T NA NA NA NA 16p12.1 NA NA NA NA rs7188975 NA NA 0.377 NA NA NA NA NA NA NA NA NA NA 0.4486 0.39 . . . . . . . . 1.000 P . . . . . . . . . -0.877 0.487 -3.05 -1.380 -1.594 0.690 -0.877199 NA NA NA NA NA 0.391 NA 8.0514 847 2 219555262 219555262 G A exonic STK36 NA nonsynonymous SNV STK36:NM_001243313:exon14:c.G1748A:p.R583Q,STK36:NM_015690:exon14:c.G1748A:p.R583Q exonic ENSG00000163482 NA nonsynonymous SNV ENSG00000163482:ENST00000295709:exon14:c.G1748A:p.R583Q,ENSG00000163482:ENST00000392105:exon14:c.G1748A:p.R583Q,ENSG00000163482:ENST00000392106:exon14:c.G1748A:p.R583Q,ENSG00000163482:ENST00000440309:exon14:c.G1748A:p.R583Q NA NA 2q35 NA NA NA NA rs1344642 0.42 0.42 0.458 0.421725 0.4235 0.1429 0.4107 0.7095 0.3262 0.41 0.16 0.4 0.75 0.4195 0.75 0.25 T 0.145 B 0.008 B 0.120 N 1.000 P 0.345 N 0.56 T -0.952 T 0.000 T 0.111 1.27 10.15 2.42 0.356 1.646 8.023 1.270143 1.270143 0.16 0.438953 0.636405 NA 0.543 NA 8.0513804 847 6 54173413 54173413 A G exonic TINAG NA nonsynonymous SNV TINAG:NM_014464:exon1:c.A65G:p.Q22R exonic ENSG00000137251 NA nonsynonymous SNV ENSG00000137251:ENST00000259782:exon1:c.A65G:p.Q22R,ENSG00000137251:ENST00000370864:exon1:c.A11G:p.Q4R,ENSG00000137251:ENST00000370869:exon2:c.A53G:p.Q18R NA NA 6p12.1 NA NA NA NA rs2297980 0.07 0.07 0.057 0.0609026 0.0905 0.005 0.0418 0.0961 0.0542 0.09 0.01 0.06 0.1 0.0868 0.11 0.93 T 0.0 B 0.002 B 0.247 N 1.000 P 1.645 L 1.99 T -1.097 T 0.050 T 0.032 0.488 6.649 -4.04 -0.930 0.141 3.715 0.488254 NA 0.49 0.10593 0.103041 NA 0.065 NA 8.0501034 847 16 19547503 19547503 C T exonic CCP110 NA nonsynonymous SNV CCP110:NM_001199022:exon4:c.C512T:p.P171L,CCP110:NM_014711:exon5:c.C512T:p.P171L exonic ENSG00000103540 NA nonsynonymous SNV ENSG00000103540:ENST00000561888:exon2:c.C344T:p.P115L,ENSG00000103540:ENST00000381396:exon4:c.C512T:p.P171L,ENSG00000103540:ENST00000396208:exon4:c.C512T:p.P171L,ENSG00000103540:ENST00000396212:exon5:c.C512T:p.P171L NA NA 16p12.3 NA NA NA NA rs3751821 0.24 0.24 0.239 0.240216 0.0755 0.3849 0.2579 0.3313 0.1247 0.07 0.38 0.21 0.36 0.1422 0.38 0.29 T 0.0 B 0.001 B 0.493 N 1.000 P -1.245 N 2.58 T -0.916 T 0.000 T 0.033 -0.899 0.441 -2.28 -0.069 -0.239 7.364 -0.898743 NA 1 0.065698 0.288803 ID=COSM148033;OCCURENCE=1(stomach) 0.21 NA 8.0499354 847 10 26463043 26463043 A T exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon30:c.A3850T:p.T1284S exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000265944:exon30:c.A3850T:p.T1284S NA NA 10p12.1 NA NA NA NA rs3740231 0.38 0.38 0.378 0.380591 0.4394 0.3542 0.3746 0.3003 0.4601 0.45 0.38 0.34 0.32 0.4145 0.45 0.8 T 0.003 B 0.002 B 0.341 N 1.000 P 0.895 L -1.11 T -1.020 T 0.000 T 0.018 0.846 8.417 -3.44 -0.458 0.368 2.716 0.84553 NA 0.35 0.429535 0.329097 ID=COSM146912;OCCURENCE=1(stomach) 0.399 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039036.1;CLNDSDB=.;CLNDSDBID=. 8.0498984 847 7 133906669 133906669 C T exonic LRGUK NA nonsynonymous SNV LRGUK:NM_144648:exon16:c.C1982T:p.A661V exonic ENSG00000155530 NA nonsynonymous SNV ENSG00000155530:ENST00000285928:exon16:c.C1982T:p.A661V Score=361;Name=lod=39 NA 7q33 NA NA NA NA rs35149449 0.14 0.14 0.13 0.133986 0.0706 0.3839 0.1297 0.0061 0.1176 0.06 0.37 0.13 0.02 0.1214 0.37 1 T 0.002 B 0.0 B 0.162 N 0.992 P -1.15 N 1.76 T -0.919 T 0.000 T 0.035 -1.5 0.017 0.667 0.044 -0.101 7.685 -1.500426 NA 1 0.092907 0.022923 NA 0.08 NA 8.0484264 847 14 20404736 20404736 G A exonic OR4K1 NA nonsynonymous SNV OR4K1:NM_001004063:exon1:c.G911A:p.R304H exonic ENSG00000155249 NA nonsynonymous SNV ENSG00000155249:ENST00000285600:exon1:c.G911A:p.R304H NA NA 14q11.2 NA NA NA NA rs2792146 0.44 0.44 0.432 0.429513 0.4294 0.6101 0.4669 0.2617 0.4438 0.41 0.61 0.46 0.28 0.4454 0.61 0.22 T 0.003 B 0.001 B 0.250 N 1.000 P 1.16 L 1.07 T -0.936 T 0.000 T 0.066 -0.48 1.788 -4.59 -0.902 -1.082 8.691 -0.480168 NA 0.29 0.410698 0.289378 NA 0.283 NA 8.0478354 847 2 241405485 241405485 C T exonic GPC1 NA synonymous SNV GPC1:NM_002081:exon9:c.C1455T:p.G485G exonic ENSG00000063660 NA synonymous SNV ENSG00000063660:ENST00000264039:exon9:c.C1455T:p.G485G Score=469;Name=lod=107 NA 2q37.3 NA NA NA NA rs2228330 0.14 0.14 0.139 0.145168 0.2107 0.0149 0.134 0.1755 0.1789 0.21 0.01 0.14 0.17 0.182 0.23 . . . . . . . . 0.000 P . . . . . . . . . 0.611 7.291 2.77 0.610 0.518 10.396 0.611022 NA NA 0.226583 0.172744 NA 0.058 NA 8.0473836 847 15 55912875 55912875 T A exonic PRTG NA nonsynonymous SNV PRTG:NM_173814:exon19:c.A3184T:p.I1062L exonic ENSG00000166450 NA nonsynonymous SNV ENSG00000166450:ENST00000389286:exon19:c.A3184T:p.I1062L NA NA 15q21.3 NA NA NA NA rs1438914 0.05 0.05 0.034 0.0365415 0.1093 NA 0.0519 0.0023 0.0348 0.11 NA 0.06 0.0041 0.0734 0.11 0.25 T 0.0 B 0.0 B 0.981 N 0.672 D 0.69 N 0.79 T -1.000 T 0.002 T 0.023 1.305 10.27 0.324 0.114 0.326 1.902 1.305246 1.305246 0.53 0.104244 0.025862 NA 0.08 NA 8.0463894 847 12 66546100 66546100 A G exonic TMBIM4 NA nonsynonymous SNV TMBIM4:NM_016056:exon3:c.T263C:p.I88T exonic ENSG00000155957,ENSG00000228144 NA nonsynonymous SNV ENSG00000155957:ENST00000358230:exon3:c.T263C:p.I88T,ENSG00000155957:ENST00000398033:exon3:c.T263C:p.I88T,ENSG00000228144:ENST00000539652:exon3:c.T263C:p.I88T,ENSG00000155957:ENST00000542724:exon3:c.T170C:p.I57T,ENSG00000155957:ENST00000556010:exon3:c.T263C:p.I88T,ENSG00000155957:ENST00000286424:exon4:c.T404C:p.I135T NA NA 12q14.3 NA NA NA NA rs8793 0.47 0.47 0.44 0.470447 0.4175 0.8839 0.245 0.2496 0.5573 0.41 0.88 0.27 0.24 0.4472 0.88 . . 0.001 B 0.003 B 0.000 N 0.000 P -0.59 N 0.84 T -1.009 T 0.000 T 0.058 0.072 4.389 2.64 0.413 1.350 8.127 0.071874 NA 0.41 0.422954 0.289918 NA 0.435 NA 8.0456794 848 17 41004637 41004637 G A exonic AOC3 NA nonsynonymous SNV AOC3:NM_001277731:exon1:c.G1277A:p.R426H,AOC3:NM_003734:exon1:c.G1277A:p.R426H exonic ENSG00000131471 NA nonsynonymous SNV ENSG00000131471:ENST00000308423:exon1:c.G1277A:p.R426H NA NA 17q21.31 NA NA NA NA rs33986943 0.05 0.05 0.056 0.0483227 0.1123 NA 0.0548 0.0091 0.0808 0.11 NA 0.06 0.02 0.0745 0.11 0.15 T 0.021 B 0.004 B 0.331 N 1.000 N 0.345 N 3.73 T -0.941 T 0.000 T 0.049 0.627 7.371 -3.71 -0.747 -0.172 8.499 0.626759 NA 0.22 0.101628 0.021562 NA 0.109 NA 8.0449054 848 14 104559852 104559852 T C exonic ASPG NA synonymous SNV ASPG:NM_001080464:exon3:c.T216C:p.I72I exonic ENSG00000166183 NA synonymous SNV ENSG00000166183:ENST00000455920:exon3:c.T216C:p.I72I,ENSG00000166183:ENST00000546892:exon3:c.T216C:p.I72I,ENSG00000166183:ENST00000551177:exon3:c.T216C:p.I72I Score=383;Name=lod=48 NA 14q32.33 Score=714;Name=V$NRSF_01 NA NA NA rs941953 0.36 0.36 0.376 0.41274 0.1809 0.3869 0.3314 0.6823 0.3712 0.17 0.38 0.35 0.64 0.2721 0.64 . . . . . . . . 0.000 P . . . . -0.960 T 0.000 T . -0.255 2.774 1.64 0.172 -0.340 3.867 -0.255089 NA NA 0.168817 0.551524 NA 0.138 NA 8.0448496 848 1 109735416 109735416 A C exonic KIAA1324 NA nonsynonymous SNV KIAA1324:NM_001267049:exon6:c.A817C:p.T273P,KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P exonic ENSG00000116299 NA nonsynonymous SNV ENSG00000116299:ENST00000529753:exon12:c.A1606C:p.T536P,ENSG00000116299:ENST00000457623:exon13:c.A1717C:p.T573P,ENSG00000116299:ENST00000369939:exon14:c.A1867C:p.T623P NA NA 1p13.3 NA NA NA NA rs659543 0.75 0.75 0.718 0.740016 0.7565 0.998 0.8055 0.3593 0.9254 0.78 1 0.8 0.39 0.7829 1 1 T 0.0 B 0.0 B 0.368 N 1.000 P -1.7 N 0.05 T -0.993 T 0.009 T 0.418 -1.555 0.015 -7.86 -1.323 -1.790 1.863 -1.555217 NA 1 0.751279 0.411938 NA 0.768 NA 8.0426544 848 19 17170885 17170885 C T exonic HAUS8 NA nonsynonymous SNV HAUS8:NM_001011699:exon5:c.G244A:p.G82R,HAUS8:NM_033417:exon5:c.G247A:p.G83R exonic ENSG00000131351 NA nonsynonymous SNV ENSG00000131351:ENST00000593360:exon4:c.G64A:p.G22R,ENSG00000131351:ENST00000253669:exon5:c.G247A:p.G83R,ENSG00000131351:ENST00000448593:exon5:c.G244A:p.G82R NA NA 19p13.11 NA NA NA NA rs1130222 0.43 0.43 0.394 0.471246 0.3996 0.4058 0.5187 0.4539 0.6022 0.39 0.42 0.48 0.47 0.4658 0.53 0.05 D 0.062 B 0.005 B 0.392 N 1.000 P 1.735 L 1.0 T -0.949 T 0.000 T 0.058 2.525 14.4 1.07 0.427 1.777 5.928 2.524794 2.524794 0.05 0.425698 0.444848 NA 0.478 NA 8.0422354 848 11 4928621 4928621 G A exonic OR51A7 NA nonsynonymous SNV OR51A7:NM_001004749:exon1:c.G22A:p.E8K exonic ENSG00000176895 NA nonsynonymous SNV ENSG00000176895:ENST00000359350:exon1:c.G22A:p.E8K NA NA 11p15.4 NA NA NA NA rs11034596 0.22 0.22 0.201 0.179912 0.0835 0.5427 0.1527 0.0703 0.0726 0.09 0.54 0.13 0.09 0.1304 0.54 0.62 T 0.023 B 0.014 B 0.038 N 1.000 P 1.415 L 2.16 T -0.948 T 0.000 T 0.118 -0.495 1.727 3.15 0.318 -0.435 10.681 -0.495119 NA 0.24 0.077711 0.079055 ID=COSM147112;OCCURENCE=1(stomach) 0.08 NA 8.0417224 848 1 35259946 35259946 G A exonic GJA4 NA synonymous SNV GJA4:NM_002060:exon2:c.G132A:p.V44V exonic ENSG00000187513 NA synonymous SNV ENSG00000187513:ENST00000342280:exon2:c.G132A:p.V44V,ENSG00000187513:ENST00000450137:exon2:c.G132A:p.V44V Score=506;Name=lod=152 NA 1p34.3 Score=910;Name=V$SREBP1_02 NA Name=17 NA rs1764389 0.24 0.24 0.257 0.236022 0.2197 0.1349 0.1614 0.4796 0.0808 0.22 0.14 0.19 0.44 0.2044 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322696 NA NA 0.201512 0.435089 ID=COSM146462;OCCURENCE=1(stomach) 0.225 NA 8.0410546 848 2 207169731 207169731 G A exonic ZDBF2 NA nonsynonymous SNV ZDBF2:NM_020923:exon5:c.G479A:p.R160K exonic ENSG00000204186 NA nonsynonymous SNV ENSG00000204186:ENST00000374423:exon5:c.G479A:p.R160K NA NA 2q33.3 NA NA NA NA rs10932150 0.4 0.4 0.384 0.405551 0.4304 0.1954 0.5086 0.4818 0.4202 0.44 0.19 0.51 0.5 0.4133 0.51 1 T 0.0 B 0.0 B 0.152 N 1.000 P -1.445 N 2.42 T -0.912 T 0.000 T 0.037 -0.614 1.267 2.59 -0.016 1.264 7.758 -0.614036 NA 1 0.45116 0.480249 NA 0.362 NA 8.0384734 848 15 45491136 45491136 C G exonic SHF NA nonsynonymous SNV SHF:NM_138356:exon2:c.G137C:p.W46S exonic ENSG00000138606 NA nonsynonymous SNV ENSG00000138606:ENST00000290894:exon2:c.G137C:p.W46S,ENSG00000138606:ENST00000318390:exon2:c.G308C:p.W103S NA NA 15q21.1 NA Name=NRSF,Pol2,GABP,Znf143_(16618-1-AP),ETS1,TAF1,GATA-1,EBF1_(C-8),CTCF,Rad21,Pol2-4H8,ZNF263,CTCF_(SC-5916),TFIIIC-110,Nrf1,HEY1,NFKB,AP-2gamma NA NA rs62026667 0.05 0.05 0.048 0.0395367 0.1143 0.001 0.062 0.003 0.0358 0.11 NA 0.06 0.002 0.0794 0.11 0.44 T 0.001 B 0.001 B 0.000 N 1.000 P 0.69 N 1.47 T -1.094 T 0.002 T 0.158 2.45 14.15 0.306 0.084 -0.056 2.002 2.450179 2.450179 0 0.102087 0.020728 NA 0.022 NA 8.0375464 848 19 43371294 43371294 C A exonic PSG1 NA nonsynonymous SNV PSG1:NM_001184825:exon6:c.G1252T:p.V418F exonic ENSG00000231924 NA nonsynonymous SNV ENSG00000231924:ENST00000403380:exon5:c.G973T:p.V325F,ENSG00000231924:ENST00000436291:exon6:c.G1252T:p.V418F NA NA 19q13.2 NA NA NA NA rs2353115 NA NA NA 0.287939 0.1083 0.4167 0.196 0.3124 0.3722 NA NA NA NA 0.1893 NA 0.07 T 0.061 B 0.093 B . . 1.000 N 0.695 N 5.77 T -1.012 T 0.045 T 0.338 -0.162 3.209 . -2.143 -0.992 . -0.162011 NA 0.01 NA NA NA NA NA 8.0357334 848 15 59323048 59323048 C G exonic RNF111 NA nonsynonymous SNV RNF111:NM_001270528:exon2:c.C27G:p.N9K,RNF111:NM_001270529:exon2:c.C27G:p.N9K,RNF111:NM_001270530:exon2:c.C27G:p.N9K,RNF111:NM_017610:exon2:c.C27G:p.N9K exonic ENSG00000157450 NA nonsynonymous SNV ENSG00000157450:ENST00000561186:exon1:c.C27G:p.N9K,ENSG00000157450:ENST00000348370:exon2:c.C27G:p.N9K,ENSG00000157450:ENST00000434298:exon2:c.C27G:p.N9K,ENSG00000157450:ENST00000557998:exon2:c.C27G:p.N9K,ENSG00000157450:ENST00000559209:exon2:c.C27G:p.N9K,ENSG00000157450:ENST00000559757:exon2:c.C27G:p.N9K,ENSG00000157450:ENST00000559160:exon3:c.C96G:p.N32K Score=613;Name=lod=412 NA 15q22.2 NA NA NA NA rs2899642 0.26 0.26 0.24 0.231629 0.4781 0.1399 0.2925 0.0212 0.3139 0.46 0.12 0.35 0.03 0.3659 0.46 0.06 T 0.369 B 0.197 B 0.000 N 0.983 P 1.1 L 2.31 T -0.913 T 0.000 T 0.104 1.548 11.13 3.7 0.716 0.738 5.948 1.548288 1.548288 0.08 0.45409 0.089457 NA 0.304 NA 8.0352434 849 6 147680359 147680359 A G exonic STXBP5 NA synonymous SNV STXBP5:NM_139244:exon21:c.A2337G:p.L779L,STXBP5:NM_001127715:exon23:c.A2445G:p.L815L exonic ENSG00000164506 NA synonymous SNV ENSG00000164506:ENST00000392291:exon5:c.A417G:p.L139L,ENSG00000164506:ENST00000367480:exon20:c.A2286G:p.L762L,ENSG00000164506:ENST00000367481:exon21:c.A2337G:p.L779L,ENSG00000164506:ENST00000179882:exon22:c.A1410G:p.L470L,ENSG00000164506:ENST00000321680:exon23:c.A2445G:p.L815L Score=420;Name=lod=68 Name=Coagulation factor levels 6q24.3 NA NA NA NA rs9390459 0.48 0.48 0.493 0.504193 0.5388 0.2907 0.5605 0.5726 0.5562 0.55 0.3 0.53 0.56 0.5326 0.56 . . . . . . . . 0.000 P . . . . -0.949 T 0.074 T . 0.133 4.718 -10.9 -2.482 -0.110 17.672 0.13346 NA NA 0.560349 0.564911 NA 0.464 NA 8.0349176 849 6 42932200 42932200 G T exonic PEX6 NA nonsynonymous SNV PEX6:NM_000287:exon17:c.C2816A:p.P939Q exonic ENSG00000124587 NA nonsynonymous SNV ENSG00000124587:ENST00000304611:exon17:c.C2816A:p.P939Q NA NA 6p21.1 NA NA NA NA rs1129187 0.33 0.33 0.332 0.33147 0.4622 0.1012 0.3516 0.3699 0.3681 0.46 0.12 0.36 0.34 0.3911 0.46 0.19 T 0.004 B 0.006 B 0.945 N 0.000 P 1.52 L -3.51 D -0.651 T 0.497 T 0.032 1.964 12.52 0.549 -0.182 0.232 2.591 1.963729 1.963729 0.14 0.445581 0.390377 ID=COSM1444600;OCCURENCE=1(large_intestine) NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078574.1;CLNDSDB=.;CLNDSDBID=. 8.0344524 849 17 38062196 38062196 G A exonic GSDMB NA nonsynonymous SNV GSDMB:NM_018530:exon6:c.C865T:p.P289S,GSDMB:NM_001042471:exon8:c.C892T:p.P298S,GSDMB:NM_001165959:exon8:c.C904T:p.P302S,GSDMB:NM_001165958:exon9:c.C931T:p.P311S exonic ENSG00000073605 NA nonsynonymous SNV ENSG00000073605:ENST00000394175:exon6:c.C865T:p.P289S,ENSG00000073605:ENST00000309481:exon8:c.C892T:p.P298S,ENSG00000073605:ENST00000360317:exon8:c.C931T:p.P311S,ENSG00000073605:ENST00000394179:exon8:c.C916T:p.P306S,ENSG00000073605:ENST00000520542:exon8:c.C904T:p.P302S,ENSG00000073605:ENST00000418519:exon9:c.C931T:p.P311S NA Name=Asthma,Ulcerative colitis 17q12 NA NA NA NA rs2305480 0.33 0.33 0.304 0.286741 0.4662 0.2817 0.3357 0.1074 0.3149 0.47 0.31 0.35 0.11 0.39 0.47 0.57 T 0.877 P 0.675 P 0.034 N 1.000 P 1.155 L 1.6 T -0.950 T 0.000 T 0.088 -0.718 0.915 0.469 0.325 0.422 5.491 -0.717902 NA 0.2 0.442791 0.146845 ID=COSM148261;OCCURENCE=1(stomach) 0.312 NA 8.0343424 849 21 19670118 19670118 G A exonic TMPRSS15 NA nonsynonymous SNV TMPRSS15:NM_002772:exon19:c.C2194T:p.P732S exonic ENSG00000154646 NA nonsynonymous SNV ENSG00000154646:ENST00000284885:exon19:c.C2194T:p.P732S NA NA 21q21.1 NA NA NA NA rs2824721 0.7 0.7 0.691 0.700879 0.7624 0.6389 0.7205 0.6687 0.7311 0.77 0.65 0.74 0.65 0.7543 0.78 . . 0.0 B 0.0 B 0.010 N 1.000 P -2.125 N 0.86 T -0.962 T 0.000 T 0.185 -1.952 0.007 5.67 0.980 1.914 8.62 -1.952366 NA 0.89 0.783023 0.705402 NA 0.71 NA 8.0336104 849 11 5153261 5153261 A G exonic OR52A5 NA synonymous SNV OR52A5:NM_001005160:exon1:c.T612C:p.F204F exonic ENSG00000171944 NA synonymous SNV ENSG00000171944:ENST00000307388:exon1:c.T612C:p.F204F NA NA 11p15.4 Score=868;Name=V$RFX1_02 Name=TAL1_(SC-12984),Pol2(b),c-Jun,GATA-2,Pol2-4H8,CCNT2,c-Myc,eGFP-GATA2,GATA2_(CG2-96),E2F6_(H-50),TAF1,E2F6,eGFP-JunD,NRSF,Max,CEBPB Name=2 NA rs2472530 0.22 0.22 0.2 0.198682 0.2028 0.3929 0.232 0.0144 0.2198 0.22 0.39 0.23 0.02 0.2196 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.078323 NA NA 0.212075 0.049977 NA 0.145 NA 8.0321916 849 11 119216279 119216279 G A exonic MFRP NA synonymous SNV MFRP:NM_031433:exon5:c.C492T:p.Y164Y exonic ENSG00000235718,ENSG00000259159 NA synonymous SNV ENSG00000235718:ENST00000360167:exon5:c.C492T:p.Y164Y,ENSG00000235718:ENST00000449574:exon5:c.C492T:p.Y164Y,ENSG00000259159:ENST00000530681:exon5:c.C492T:p.Y164Y,ENSG00000235718:ENST00000555262:exon5:c.C492T:p.Y164Y Score=552;Name=lod=233 NA 11q23.3 Score=875;Name=V$SPZ1_01 NA NA NA rs36015759 0.2 0.2 0.184 0.201478 0.2028 0.2024 0.1657 0.2489 0.1605 0.21 0.19 0.18 0.23 0.2136 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.528382 NA NA 0.219441 0.236016 NA 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000132684.1;CLNDSDB=.;CLNDSDBID=. 8.0308256 849 2 166003479 166003479 G A exonic SCN3A NA synonymous SNV SCN3A:NM_001081676:exon12:c.C1441T:p.L481L,SCN3A:NM_001081677:exon12:c.C1441T:p.L481L,SCN3A:NM_006922:exon12:c.C1441T:p.L481L exonic ENSG00000153253 NA synonymous SNV ENSG00000153253:ENST00000440431:exon11:c.C1441T:p.L481L,ENSG00000153253:ENST00000283254:exon12:c.C1441T:p.L481L,ENSG00000153253:ENST00000360093:exon12:c.C1441T:p.L481L,ENSG00000153253:ENST00000409101:exon12:c.C1441T:p.L481L Score=491;Name=lod=132 NA 2q24.3 NA NA Name=2 NA rs16850131 0.26 0.26 0.244 0.257388 0.2008 0.3065 0.2032 0.267 0.2904 0.2 0.33 0.24 0.29 0.2215 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591449 NA NA 0.21407 0.247163 NA 0.203 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081470.1;CLNDSDB=.;CLNDSDBID=. 8.0302966 849 11 78279790 78279790 T G exonic NARS2 NA nonsynonymous SNV NARS2:NM_024678:exon3:c.A260C:p.N87T exonic ENSG00000137513 NA nonsynonymous SNV ENSG00000137513:ENST00000281038:exon3:c.A260C:p.N87T,ENSG00000137513:ENST00000529880:exon3:c.A260C:p.N87T Score=591;Name=lod=335 NA 11q14.1 NA NA NA NA rs10501429 0.7 0.7 0.711 0.710064 0.7694 0.6012 0.6182 0.7753 0.7382 0.77 0.57 0.68 0.76 0.7382 0.8 1 T 0.0 B 0.0 B 0.039 N 0.000 P -1.52 N 2.07 T -0.955 T 0.000 T 0.114 -0.713 0.931 4.45 0.638 1.732 13.672 -0.712658 NA 1 0.796434 0.779545 NA 0.79 NA 8.0292994 849 15 101120963 101120963 T C exonic LINS NA nonsynonymous SNV LINS:NM_001040616:exon2:c.A85G:p.I29V exonic ENSG00000140471 NA nonsynonymous SNV ENSG00000140471:ENST00000314742:exon2:c.A85G:p.I29V,ENSG00000140471:ENST00000560272:exon2:c.A85G:p.I29V,ENSG00000140471:ENST00000560934:exon2:c.A85G:p.I29V,ENSG00000140471:ENST00000561308:exon2:c.A85G:p.I29V,ENSG00000140471:ENST00000559577:exon3:c.A85G:p.I29V,ENSG00000140471:ENST00000559736:exon3:c.A85G:p.I29V NA NA 15q26.3 NA NA NA NA rs11247226 0.32 0.32 0.318 0.298522 0.4523 0.246 0.2464 0.1861 0.3834 0.46 0.25 0.28 0.19 0.3836 0.47 0.86 T 0.005 B 0.005 B 0.734 N 1.000 P 0.55 N 1.84 T -0.916 T 0.000 T 0.18 0.205 5.107 -4.72 -0.798 -2.670 10.885 0.205418 NA 0.35 0.469651 0.228779 NA 0.362 NA 8.0277824 849 1 145109549 145109549 G T exonic SEC22B NA unknown UNKNOWN ncRNA_exonic ENSG00000223380 NA NA NA Score=669;Name=lod=697 NA 1q21.1 Score=858;Name=V$P300_01 Name=BDP1 Name=8 NA rs2596331 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4997 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.061918 3.061918 NA 0.306152 0.315169 NA 0.464 NA 8.0274813 849 11 4103524 4103524 A G exonic STIM1 NA synonymous SNV STIM1:NM_001277961:exon8:c.A1080G:p.Q360Q,STIM1:NM_001277962:exon8:c.A1080G:p.Q360Q,STIM1:NM_003156:exon8:c.A1080G:p.Q360Q exonic ENSG00000167323 NA synonymous SNV ENSG00000167323:ENST00000533977:exon5:c.A561G:p.Q187Q,ENSG00000167323:ENST00000300737:exon8:c.A1080G:p.Q360Q,ENSG00000167323:ENST00000527651:exon8:c.A1080G:p.Q360Q Score=595;Name=lod=349 NA 11p15.4 NA NA Name=5 NA rs2304891 0.43 0.43 0.4 0.388978 0.5676 0.4425 0.4841 0.0976 0.4765 0.56 0.48 0.54 0.1 0.4996 0.57 . . . . . . . . 0.000 P . . . . -0.902 T 0.000 T . 1.246 10.06 1.5 0.016 1.794 9.453 1.24608 1.24608 NA 0.574453 0.173785 ID=COSM428967;OCCURENCE=1(breast),1(liver) 0.377 NA 8.0250136 850 16 84695490 84695490 C T exonic KLHL36 NA synonymous SNV KLHL36:NM_024731:exon5:c.C1602T:p.H534H exonic ENSG00000135686 NA synonymous SNV ENSG00000135686:ENST00000258157:exon4:c.C1413T:p.H471H,ENSG00000135686:ENST00000564996:exon5:c.C1602T:p.H534H Score=522;Name=lod=177 NA 16q24.1 Score=783;Name=V$MIF1_01 NA NA Score=171;Name=943452_0_-_171 rs12928590 0.16 0.16 0.174 0.143371 0.2068 0.0327 0.098 0.2526 0.0767 0.23 0.03 0.12 0.25 0.2093 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018968 NA NA 0.226564 0.250227 NA 0.181 NA 8.0240026 850 11 73120653 73120653 A G exonic FAM168A NA synonymous SNV FAM168A:NM_015159:exon6:c.T474C:p.H158H exonic ENSG00000054965 NA synonymous SNV ENSG00000054965:ENST00000356467:exon6:c.T474C:p.H158H,ENSG00000054965:ENST00000064778:exon7:c.T501C:p.H167H Score=554;Name=lod=238 NA 11q13.4 Score=858;Name=V$MRF2_01 NA Name=10 NA rs10793060 0.27 0.27 0.265 0.287939 0.2038 0.0665 0.2421 0.6747 0.1125 0.21 0.08 0.22 0.63 0.2338 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.381716 1.381716 NA 0.205161 0.555762 NA 0.355 NA 8.0239056 850 12 16757863 16757863 T C UTR5 LMO3 NM_001243611:c.-40A>G NA NA UTR5 ENSG00000048540 ENST00000320122:c.-4069A>G,ENST00000261169:c.-40A>G NA NA Score=590;Name=lod=333 NA 12p12.3 Score=708;Name=V$NRSF_01 Name=SUZ12 Name=13 NA rs78062402 0.05 0.05 0.051 0.0375399 0.1173 NA 0.0476 0.003 0.0337 0.12 NA 0.05 NA 0.0776 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.704987 2.704987 NA 0.118282 0.021689 NA 0.036 NA 8.0201514 850 16 633354 633354 G A exonic PIGQ NA nonsynonymous SNV PIGQ:NM_148920:exon10:c.G2003A:p.C668Y exonic ENSG00000007541 NA nonsynonymous SNV ENSG00000007541:ENST00000026218:exon10:c.G2003A:p.C668Y NA NA 16p13.3 NA NA NA NA rs710925 0.48 0.48 0.468 0.530152 0.4324 0.6369 0.4885 0.4735 0.6268 0.41 0.57 0.47 0.48 0.4909 0.57 . . 0.013 B 0.018 B . . 1.000 P 0 N 1.93 T -0.920 T 0.000 T 0.057 0.308 5.669 -5.47 -1.690 0.644 1.904 0.308075 NA 0.24 0.390298 0.445909 NA NA NA 8.0197354 850 5 79026539 79026539 A C exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.A1951C:p.S651R exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A1951C:p.S651R NA NA 5q14.1 NA NA NA NA rs57544556 0.28 0.28 0.321 0.270966 0.0815 0.3621 0.0821 0.5734 0.0971 0.08 0.41 0.08 0.61 0.1462 0.61 0.23 T 0.0 B 0.0 B 0.315 N 1.000 P -0.55 N 1.23 T -0.933 T 0.000 T 0.029 -0.614 1.268 0.216 0.043 -1.852 2.555 -0.613993 NA 0.73 0.086473 0.476804 ID=COSM149865;OCCURENCE=1(stomach) 0.304 NA 8.0191604 850 4 178231152 178231152 C A exonic NEIL3 NA synonymous SNV NEIL3:NM_018248:exon1:c.C45A:p.R15R exonic ENSG00000109674 NA synonymous SNV ENSG00000109674:ENST00000264596:exon1:c.C45A:p.R15R,ENSG00000109674:ENST00000513321:exon1:c.C45A:p.R15R Score=385;Name=lod=49 NA 4q34.3 NA Name=NFKB,HEY1,CCNT2,CHD2_(N-1250),TBP,ETS1,TAF1,GATA-1,HMGN3,Mxi1_(bHLH),Pol2,Pol2-4H8,E2F6,Sin3Ak-20,HA-E2F1 Name=2 NA rs10013040 0.17 0.17 0.147 0.169329 0.2177 0.1369 0.1744 0.1384 0.1912 0.21 0.15 0.19 0.13 0.205 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.819335 1.819335 NA 0.225116 0.14555 NA 0.152 NA 8.0188506 850 22 32587027 32587027 G C exonic RFPL2 NA nonsynonymous SNV RFPL2:NM_006605:exon2:c.C686G:p.T229S,RFPL2:NM_001159545:exon4:c.C599G:p.T200S,RFPL2:NM_001159546:exon4:c.C599G:p.T200S,RFPL2:NM_001098527:exon5:c.C869G:p.T290S exonic ENSG00000128253 NA nonsynonymous SNV ENSG00000128253:ENST00000248980:exon2:c.C686G:p.T229S,ENSG00000128253:ENST00000248983:exon4:c.C599G:p.T200S,ENSG00000128253:ENST00000400236:exon5:c.C599G:p.T200S,ENSG00000128253:ENST00000400237:exon5:c.C869G:p.T290S NA NA 22q12.3 NA NA NA NA rs136472 0.44 0.44 0.393 0.485423 0.493 0.1558 0.3804 0.8631 0.3814 0.46 0.13 0.35 0.83 0.4379 0.83 1 T 0.0 B 0.0 B . . 1.000 P -1.655 N 0.07 T -0.945 T 0.000 T 0.035 -3.005 0.001 -0.622 -2.820 -2.483 2.713 -3.005017 NA 1 0.384132 0.739219 NA 0.529 NA 8.0183014 850 3 124515308 124515308 A G exonic ITGB5 NA synonymous SNV ITGB5:NM_002213:exon10:c.T1620C:p.F540F exonic ENSG00000082781 NA synonymous SNV ENSG00000082781:ENST00000296181:exon10:c.T1620C:p.F540F Score=481;Name=lod=120 NA 3q21.2 NA NA NA NA rs1803825 0.31 0.31 0.312 0.336661 0.1879 0.3194 0.3473 0.4788 0.3078 0.18 0.34 0.3 0.48 0.2601 0.48 . . . . . . . . 0.000 P . . . . -0.904 T 0.000 T . 0.653 7.501 0.242 -0.106 -1.263 6.595 0.652613 NA NA 0.200581 0.417839 NA 0.319 NA 8.0180856 850 5 79029383 79029383 T G exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.T4795G:p.S1599A exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.T4795G:p.S1599A NA NA 5q14.1 NA NA NA NA rs1428224 0.29 0.29 0.319 0.276158 0.0815 0.3621 0.085 0.5915 0.0971 0.08 0.41 0.09 0.62 0.1471 0.62 0.86 T 0.01 B 0.007 B 0.981 N 1.000 P 1.495 L 3.31 T -0.913 T 0.000 T 0.052 1.829 12.08 -2.73 -0.059 -0.102 0.084 1.829387 1.829387 0.84 0.086693 0.503721 NA 0.319 NA 8.0180404 850 1 152280471 152280471 C G exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G6891C:p.E2297D exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G6891C:p.E2297D NA NA 1q21.3 NA NA NA NA rs78179835 NA NA 0.137 NA NA NA NA NA NA NA NA NA NA 0.2086 0.11 1 T 0.0 B 0.0 B . . 1.000 P -0.39 N 5.73 T -1.006 T 0.000 T 0.018 0.086 4.465 -3.95 -0.492 -0.925 8.749 0.086112 NA 0.81 0.107093 0.091466 NA 0.007 NA 8.0176404 850 5 79030346 79030346 A G exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.A5758G:p.S1920G exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A5758G:p.S1920G NA NA 5q14.1 NA NA NA NA rs16877151 0.29 0.29 0.332 0.27516 0.0815 0.3621 0.085 0.5877 0.0971 0.08 0.41 0.09 0.62 0.1478 0.62 1 T 0.0 B 0.0 B 0.384 N 1.000 P -1.24 N 3.81 T -0.980 T 0.000 T 0.039 -0.864 0.516 4.28 0.455 0.743 6.628 -0.864257 NA 1 0.086473 0.497181 NA 0.297 NA 8.0175604 850 6 109767930 109767930 G T exonic MICAL1 NA nonsynonymous SNV MICAL1:NM_001159291:exon17:c.C2015A:p.A672E,MICAL1:NM_022765:exon18:c.C2273A:p.A758E exonic ENSG00000135596 NA nonsynonymous SNV ENSG00000135596:ENST00000358577:exon17:c.C2015A:p.A672E,ENSG00000135596:ENST00000358807:exon18:c.C2273A:p.A758E,ENSG00000135596:ENST00000368952:exon18:c.C2330A:p.A777E NA NA 6q21 NA NA NA NA rs9320288 0.51 0.51 0.484 0.557109 0.4453 0.4514 0.4971 0.7579 0.5521 0.41 0.47 0.47 0.73 0.491 0.73 1 T 0.0 B 0.0 B 0.350 N 1.000 P -1.845 N 0.76 T -0.942 T 0.009 T 0.135 -1.101 0.142 2.24 0.400 1.565 10.207 -1.100897 NA 1 0.380698 0.68384 NA 0.246 NA 8.0163354 850 10 96798749 96798749 T C exonic CYP2C8 NA nonsynonymous SNV CYP2C8:NM_001198854:exon7:c.A890G:p.K297R,CYP2C8:NM_000770:exon8:c.A1196G:p.K399R,CYP2C8:NM_001198853:exon8:c.A986G:p.K329R,CYP2C8:NM_001198855:exon9:c.A986G:p.K329R exonic ENSG00000138115 NA nonsynonymous SNV ENSG00000138115:ENST00000535898:exon7:c.A890G:p.K297R,ENSG00000138115:ENST00000371270:exon8:c.A1196G:p.K399R NA NA 10q23.33 NA NA NA NA rs10509681 0.06 0.06 0.046 0.0457268 0.1183 0.001 0.0994 0.0083 0.0297 0.11 0.0035 0.13 0.01 0.0826 0.13 0.11 T 0.021 B 0.079 B 0.109 U 1.000 P 1.91 M -0.49 T -1.043 T 0.004 T 0.05 1.369 10.51 -1.44 -0.368 -0.030 4.629 1.369107 1.369107 0.02 0.116628 0.024512 NA 0.094 NA 8.0158054 851 7 32909182 32909182 G A exonic KBTBD2 NA synonymous SNV KBTBD2:NM_015483:exon4:c.C1647T:p.Y549Y exonic ENSG00000170852 NA synonymous SNV ENSG00000170852:ENST00000304056:exon4:c.C1647T:p.Y549Y Score=675;Name=lod=737 NA 7p14.3 Score=808;Name=V$CHX10_01 Name=Pol2(phosphoS2) NA NA rs752730 0.2 0.2 0.162 0.192692 0.2018 0.2242 0.4207 0.0756 0.1472 0.2 0.22 0.35 0.06 0.2335 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397144 NA NA 0.21686 0.090785 NA 0.181 NA 8.0145066 851 4 7780582 7780582 C T exonic AFAP1 NA nonsynonymous SNV AFAP1:NM_198595:exon13:c.G1552A:p.V518M,AFAP1:NM_001134647:exon14:c.G1804A:p.V602M exonic ENSG00000196526 NA nonsynonymous SNV ENSG00000196526:ENST00000360265:exon12:c.G1552A:p.V518M,ENSG00000196526:ENST00000358461:exon13:c.G1552A:p.V518M,ENSG00000196526:ENST00000382543:exon13:c.G1804A:p.V602M,ENSG00000196526:ENST00000420658:exon14:c.G1804A:p.V602M NA NA 4p16.1 NA NA Name=14 NA rs41264705 0.15 0.15 0.128 0.110623 0.2992 0.0615 0.1455 0.0106 0.0777 0.28 0.07 0.19 0.02 0.2211 0.3 0.1 T 0.844 P 0.075 B 0.126 N 1.000 P 1.39 L 2.48 T -0.946 T 0.000 T 0.024 0.797 8.194 -0.23 -0.038 -0.488 5.890 0.796722 NA 0.09 0.299767 0.054471 NA 0.123 NA 8.0132664 851 4 187629140 187629140 G C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.C1842G:p.F614L exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.C1842G:p.F614L Score=449;Name=lod=89 NA 4q35.2 NA NA NA NA rs367863 0.68 0.68 0.681 0.690495 0.7773 0.502 0.6974 0.708 0.7669 0.77 0.5 0.74 0.7 0.7476 0.8 0.87 T 0.0 B 0.0 B 0.000 N 1.000 P -1.475 N 1.35 T -0.980 T 0.000 T 0.021 -2.081 0.006 3.53 0.860 1.447 4.962 -2.08052 NA 0.86 0.795266 0.746791 NA 0.732 NA 8.0131674 851 11 61111346 61111346 C G exonic DAK NA nonsynonymous SNV DAK:NM_015533:exon12:c.C1001G:p.A334G exonic ENSG00000149476 NA nonsynonymous SNV ENSG00000149476:ENST00000529479:exon10:c.C998G:p.A333G,ENSG00000149476:ENST00000394900:exon12:c.C1001G:p.A334G NA NA 11q12.2 NA NA NA NA rs35723406 0.05 0.05 0.045 0.038738 0.1213 0.001 0.0648 0.0038 0.0215 0.1 0.0017 0.07 0.0041 0.0805 0.12 0.02 D 0.0 B 0.005 B 0.293 N 1.000 P 1.355 L 1.53 T -1.078 T 0.001 T 0.122 1.938 12.44 -0.714 -0.346 0.683 8.248 1.938144 1.938144 0.13 0.119679 0.024739 NA 0.065 NA 8.0118544 851 19 9020153 9020153 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon21:c.G37342A:p.E12448K exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon21:c.G37342A:p.E12448K NA NA 19p13.2 NA NA NA NA rs75217292 0.07 0.07 0.061 0.0896565 0.1083 0.0982 0.1282 0.0098 0.1421 0.08 0.08 0.12 0.01 0.1092 0.12 0 D 0.01 B 0.027 B . . . . 1.62 L 0.94 T -1.059 T 0.002 T 0.036 0.702 7.743 -0.36 -0.111 -0.494 6.103 0.701679 NA NA 0.104702 0.025889 NA NA NA 8.0111314 851 1 23885498 23885498 T C exonic ID3 NA nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A exonic ENSG00000117318 NA nonsynonymous SNV ENSG00000117318:ENST00000374561:exon2:c.A313G:p.T105A NA NA 1p36.12 NA Name=TBP,Pol2 Name=121 NA rs11574 0.86 0.86 0.891 0.890375 0.7575 0.9692 0.7392 0.9894 0.9192 0.75 0.98 0.75 0.99 0.8037 0.99 0.99 T 0.0 B 0.0 B 0.902 N 1.000 P -0.55 N -0.56 T -0.986 T 0.000 T 0.016 -1.671 0.012 -2.76 -0.734 -0.616 4.909 -1.671487 NA 0.79 0.761512 0.939855 NA 0.819 NA 8.0106214 851 3 119379186 119379186 C T exonic POPDC2 NA nonsynonymous SNV POPDC2:NM_022135:exon1:c.G85A:p.V29I exonic ENSG00000121577 NA nonsynonymous SNV ENSG00000121577:ENST00000264231:exon1:c.G85A:p.V29I,ENSG00000121577:ENST00000341124:exon1:c.G85A:p.V29I,ENSG00000121577:ENST00000468801:exon1:c.G85A:p.V29I,ENSG00000121577:ENST00000493094:exon1:c.G85A:p.V29I,ENSG00000121577:ENST00000538678:exon1:c.G85A:p.V29I NA NA 3q13.33 NA NA NA NA rs4688023 0.38 0.38 0.361 0.401757 0.4304 0.3323 0.4611 0.2935 0.5481 0.43 0.34 0.47 0.26 0.4499 0.49 0.91 T 0.026 B 0.015 B 0.574 N 0.982 P 0.705 N 1.08 T -0.947 T 0.000 T 0.061 -0.448 1.924 -5.63 -0.985 -0.433 10.922 -0.447524 NA 0.84 0.442558 0.318656 NA 0.42 NA 8.0104754 851 5 150565008 150565008 C T exonic CCDC69 NA nonsynonymous SNV CCDC69:NM_015621:exon7:c.G590A:p.R197K exonic ENSG00000198624 NA nonsynonymous SNV ENSG00000198624:ENST00000355417:exon7:c.G590A:p.R197K Score=592;Name=lod=340 NA 5q33.1 NA NA NA NA rs248427 0.42 0.42 0.43 0.408946 0.4433 0.3492 0.3991 0.4516 0.3845 0.44 0.35 0.42 0.47 0.4273 0.47 1 T 0.0 B 0.0 B 0.005 N 1.000 P -1.795 N 3.13 T -0.927 T 0.000 T 0.11 -0.191 3.07 2.25 0.328 0.830 7.955 -0.191436 NA 1 0.452558 0.461643 NA 0.399 NA 8.0101754 851 16 1306346 1306346 C T exonic TPSD1 NA nonsynonymous SNV TPSD1:NM_012217:exon1:c.C65T:p.P22L exonic ENSG00000095917 NA nonsynonymous SNV ENSG00000095917:ENST00000211076:exon1:c.C65T:p.P22L,ENSG00000095917:ENST00000397534:exon2:c.C44T:p.P15L NA NA 16p13.3 NA NA NA NA rs3865205 0.17 0.17 0.14 0.174121 0.0984 0.123 0.2522 0.3003 0.0787 0.09 0.13 0.23 0.31 0.1341 0.31 0.7 T 0.0 B 0.0 B 0.069 N 1.000 P 0 N -1.4 T -1.091 T 0.000 T 0.111 0.41 6.229 0.112 -0.544 -2.678 6.961 0.410456 NA 0.03 0.091089 0.263086 NA 0.029 NA 8.0097444 851 12 3788222 3788222 G A exonic EFCAB4B NA nonsynonymous SNV EFCAB4B:NM_001144958:exon6:c.C383T:p.A128V,EFCAB4B:NM_032680:exon6:c.C383T:p.A128V exonic ENSG00000130038 NA nonsynonymous SNV ENSG00000130038:ENST00000252322:exon6:c.C383T:p.A128V,ENSG00000130038:ENST00000440314:exon6:c.C383T:p.A128V,ENSG00000130038:ENST00000444507:exon6:c.C383T:p.A128V NA NA 12p13.32 NA NA NA NA rs242017 0.23 0.23 0.201 0.226637 0.2644 0.1319 0.3372 0.1785 0.272 0.27 0.14 0.34 0.19 0.2762 0.34 0.52 T 0.514 P 0.167 B 0.605 N 1.000 P 2.175 M 2.46 T -1.029 T 0.000 T 0.088 1.13 9.608 0.878 0.291 0.131 6.884 1.13043 NA 0.14 0.283605 0.194281 NA 0.232 NA 8.0091284 851 5 178359136 178359136 A G exonic ZFP2 NA synonymous SNV ZFP2:NM_030613:exon5:c.A822G:p.Q274Q exonic ENSG00000198939 NA synonymous SNV ENSG00000198939:ENST00000503510:exon4:c.A822G:p.Q274Q,ENSG00000198939:ENST00000520301:exon4:c.A822G:p.Q274Q,ENSG00000198939:ENST00000361362:exon5:c.A822G:p.Q274Q,ENSG00000198939:ENST00000523286:exon5:c.A822G:p.Q274Q Score=529;Name=lod=188 NA 5q35.3 Score=909;Name=V$CEBP_01 Name=ZNF274,SETDB1,KAP1 NA NA rs961030 0.28 0.28 0.267 NA NA NA NA NA NA 0.34 0.37 0.26 0.13 0.329 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276436 NA NA 0.328605 0.172265 NA 0.181 NA 8.0090616 851 19 10395683 10395683 A G exonic ICAM1 NA nonsynonymous SNV ICAM1:NM_000201:exon6:c.A1405G:p.K469E exonic ENSG00000090339 NA nonsynonymous SNV ENSG00000090339:ENST00000423829:exon4:c.A739G:p.K247E,ENSG00000090339:ENST00000264832:exon6:c.A1405G:p.K469E NA Name=Soluble ICAM-1 19p13.2 NA NA NA NA rs5498 0.35 0.35 0.322 0.358826 0.4662 0.2788 0.5548 0.1354 0.4939 0.46 0.3 0.51 0.12 0.4281 0.51 1 T 0.0 B 0.0 B 0.140 N 1.000 P -1.395 N 2.72 T -0.921 T 0.000 T 0.013 -0.772 0.754 -2.57 -0.217 0.132 5.408 -0.771911 NA 1 0.431163 0.192692 NA 0.362 NA 8.0078704 851 12 55714772 55714772 G A exonic OR6C1 NA nonsynonymous SNV OR6C1:NM_001005182:exon1:c.G389A:p.C130Y exonic ENSG00000205330 NA nonsynonymous SNV ENSG00000205330:ENST00000379668:exon1:c.G389A:p.C130Y Score=340;Name=lod=32 NA 12q13.2 NA NA NA NA rs7132431 0.81 0.81 0.798 0.782748 0.7744 0.8581 0.7695 0.8298 0.6595 0.76 0.88 0.78 0.81 0.7683 0.88 1 T 0.0 B 0.0 B 0.000 N 0.999 P -3.92 N 7.44 T -0.999 T 0.000 T 0.035 -2.23 0.005 3.41 0.266 6.800 6.561 -2.230293 NA 1 0.784419 0.82433 NA 0.841 NA 8.0062144 851 20 52675188 52675188 G T exonic BCAS1 NA nonsynonymous SNV BCAS1:NM_003657:exon2:c.C70A:p.Q24K exonic ENSG00000064787 NA nonsynonymous SNV ENSG00000064787:ENST00000371435:exon2:c.C70A:p.Q24K,ENSG00000064787:ENST00000371440:exon2:c.C70A:p.Q24K,ENSG00000064787:ENST00000395961:exon2:c.C70A:p.Q24K NA NA 20q13.2 NA Name=FOXA1_(SC-101058),FOXA1_(C-20) Name=5 NA rs394732 0.54 0.54 0.551 0.576078 0.4175 0.6339 0.3199 0.8094 0.546 0.42 0.6 0.37 0.79 0.4752 0.79 1 T 0.0 B 0.0 B 0.229 N 0.002 P -1.78 N 2.73 T -1.025 T 0.000 T 0.026 -1.004 0.254 -0.322 -0.426 0.213 5.652 -1.004058 NA 1 0.434419 0.74512 NA 0.572 NA 8.0062144 851 11 103907956 103907956 G A exonic DDI1 NA nonsynonymous SNV DDI1:NM_001001711:exon1:c.G406A:p.G136S exonic ENSG00000170967 NA nonsynonymous SNV ENSG00000170967:ENST00000302259:exon1:c.G406A:p.G136S NA NA 11q22.3 NA Name=NRSF NA NA rs7102675 0.09 0.09 0.097 0.0810703 0.1213 0.0139 0.036 0.1301 0.0746 0.14 0.02 0.03 0.13 0.0955 0.14 0.83 T 0.001 B 0.001 B 0.923 N 1.000 P -0.345 N 2.04 T -0.967 T 0.000 T 0.007 -0.751 0.815 -0.63 -0.108 0.040 4.406 -0.750681 NA 0.81 0.11084 0.138965 NA 0.08 NA 8.0056934 851 6 117244374 117244374 T C exonic RFX6 NA synonymous SNV RFX6:NM_173560:exon14:c.T1542C:p.N514N exonic ENSG00000185002 NA synonymous SNV ENSG00000185002:ENST00000332958:exon14:c.T1542C:p.N514N Score=677;Name=lod=754 NA 6q22.1 Score=735;Name=V$MEF2_04 NA NA NA rs7770158 0.3 0.3 0.285 0.339856 0.2286 0.4236 0.2896 0.2927 0.4673 0.23 0.41 0.27 0.29 0.2552 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88701 NA NA 0.177674 0.279619 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118180.2;CLNDSDB=.;CLNDSDBID=. 8.0051926 852 10 71562437 71562437 G A exonic COL13A1 NA synonymous SNV COL13A1:NM_001130103:exon1:c.G258A:p.T86T,COL13A1:NM_080798:exon1:c.G258A:p.T86T,COL13A1:NM_080800:exon1:c.G258A:p.T86T,COL13A1:NM_080801:exon1:c.G258A:p.T86T,COL13A1:NM_080802:exon1:c.G258A:p.T86T,COL13A1:NM_080805:exon1:c.G258A:p.T86T exonic ENSG00000197467 NA synonymous SNV ENSG00000197467:ENST00000354547:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000356340:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000357811:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398964:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398966:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398968:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398969:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398971:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398972:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398973:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398974:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398978:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000479733:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000517713:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000520133:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000520267:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000522165:exon1:c.G258A:p.T86T Score=610;Name=lod=400 NA 10q22.1 Score=771;Name=V$MEF2_01 Name=TCF4,CTCF,ZNF263 Name=98 NA rs10998973 0.56 0.56 0.544 0.527157 0.5686 0.7073 0.6571 0.3139 0.4949 0.57 0.72 0.64 0.31 0.5526 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.479546 1.479546 NA 0.540777 0.301906 ID=COSM427823,COSM427824;OCCURENCE=1(breast) 0.297 NA 8.0046896 852 6 117248218 117248218 T C exonic RFX6 NA synonymous SNV RFX6:NM_173560:exon17:c.T1914C:p.G638G exonic ENSG00000185002 NA synonymous SNV ENSG00000185002:ENST00000332958:exon17:c.T1914C:p.G638G Score=462;Name=lod=101 NA 6q22.1 Score=863;Name=V$TAL1BETAITF2_01 NA NA NA rs611349 0.3 0.3 0.276 0.340455 0.2286 0.4226 0.2911 0.2958 0.4663 0.23 0.41 0.27 0.29 0.2556 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240689 NA NA 0.177907 0.283931 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118182.2;CLNDSDB=.;CLNDSDBID=. 8.0045596 852 1 17085427 17085427 T C exonic MST1L NA nonsynonymous SNV MST1L:NM_001271733:exon10:c.A1264G:p.I422V ncRNA_exonic ENSG00000186715 NA NA NA Score=694;Name=lod=882 NA 1p36.13 NA NA NA NA rs2002186 NA NA 0.228 NA NA NA NA NA NA NA NA NA NA 0.4958 NA 0 D 0.004 B 0.003 B 0.101 N . . . . . . -1.001 T 0.061 T 0.073 -0.706 0.952 . 0.000 -0.903 2.818 -0.70601 NA 0.58 NA NA NA NA NA 8.0042 852 19 53345060 53345060 G C exonic ZNF468 NA nonsynonymous SNV ZNF468:NM_001008801:exon4:c.C487G:p.Q163E exonic ENSG00000204604 NA nonsynonymous SNV ENSG00000204604:ENST00000390651:exon4:c.C328G:p.Q110E,ENSG00000204604:ENST00000595646:exon4:c.C487G:p.Q163E,ENSG00000204604:ENST00000396409:exon5:c.C328G:p.Q110E NA NA 19q13.41 NA NA NA NA rs61747364 0.09 0.09 0.074 0.0970447 0.1163 0.0496 0.1124 0.0998 0.1115 0.11 0.05 0.09 0.08 0.1067 0.11 0.88 T 0.004 B 0.001 B . . 1.000 P 1.765 L 3.3 T -0.912 T 0.000 T 0.04 -0.019 3.918 -2.89 -0.674 -0.246 5.938 -0.018702 NA 0.07 0.106279 0.093963 NA 0.094 NA 8.0040544 852 5 137244517 137244517 G A exonic PKD2L2 NA nonsynonymous SNV PKD2L2:NM_001258448:exon8:c.G1144A:p.V382I,PKD2L2:NM_014386:exon8:c.G1210A:p.V404I exonic ENSG00000078795 NA nonsynonymous SNV ENSG00000078795:ENST00000350250:exon7:c.G1108A:p.V370I,ENSG00000078795:ENST00000290431:exon8:c.G1210A:p.V404I,ENSG00000078795:ENST00000502810:exon8:c.G1144A:p.V382I,ENSG00000078795:ENST00000508883:exon8:c.G1210A:p.V404I Score=653;Name=lod=602 NA 5q31.2 NA NA NA NA rs1880458 0.78 0.78 0.783 0.787939 0.7575 0.9702 0.7752 0.593 0.9039 0.76 0.97 0.72 0.61 0.7942 0.97 0.39 T 0.0 B 0.001 B 0.108 N 0.000 P -0.345 N -0.48 T -1.003 T 0.000 T 0.023 1.983 12.59 3.47 0.470 4.450 3.773 1.982601 1.982601 0.25 0.777778 0.626163 NA 0.717 NA 8.0038554 852 6 109764535 109764535 G T exonic SMPD2 NA nonsynonymous SNV SMPD2:NM_003080:exon9:c.G795T:p.R265S exonic ENSG00000135587 NA nonsynonymous SNV ENSG00000135587:ENST00000258052:exon9:c.G795T:p.R265S NA NA 6q21 NA NA NA NA rs1476387 0.53 0.53 0.546 0.552915 0.4314 0.4534 0.4928 0.7549 0.5501 0.43 0.51 0.49 0.75 0.4767 0.75 0.83 T 0.0 B 0.0 B 0.270 N 1.000 P 0.345 N -1.37 T -1.004 T 0.073 T 0.261 -2.274 0.004 -7.33 -1.675 -0.424 3.582 -2.274012 NA 0.88 0.421744 0.697004 ID=COSM450298;OCCURENCE=1(breast) 0.507 NA 8.0034894 852 19 53345176 53345176 C T exonic ZNF468 NA nonsynonymous SNV ZNF468:NM_001008801:exon4:c.G371A:p.G124D exonic ENSG00000204604 NA nonsynonymous SNV ENSG00000204604:ENST00000390651:exon4:c.G212A:p.G71D,ENSG00000204604:ENST00000595646:exon4:c.G371A:p.G124D,ENSG00000204604:ENST00000396409:exon5:c.G212A:p.G71D NA NA 19q13.41 NA NA NA NA rs61732713 0.09 0.09 0.088 0.0970447 0.1163 0.0496 0.1124 0.0998 0.1115 0.11 0.05 0.1 0.08 0.1068 0.11 1 T 0.0 B 0.0 B . . 1.000 P -1.485 N 3.49 T -0.938 T 0.000 T 0.098 -2.578 0.003 -1.3 -0.484 -2.593 6.147 -2.578419 NA 1 0.107326 0.096005 NA 0.145 NA 8.0029074 852 19 55994240 55994240 C T exonic ZNF628 NA synonymous SNV ZNF628:NM_033113:exon3:c.C1680T:p.H560H exonic ENSG00000197483 NA synonymous SNV ENSG00000197483:ENST00000391718:exon3:c.C1668T:p.H556H,ENSG00000197483:ENST00000598519:exon3:c.C1680T:p.H560H Score=535;Name=lod=199 NA 19q13.42 Score=899;Name=V$ARNT_01 Name=Pol2 Name=2 NA rs12981044 0.54 0.54 0.552 0.568091 0.5368 0.4375 0.536 0.6717 0.6176 0.52 0.46 0.52 0.67 0.5606 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397924 NA NA 0.566589 0.649159 NA 0.413 NA 8.0026776 852 20 29625935 29625935 A G ncRNA_exonic FRG1B NA NA NA exonic ENSG00000149531 NA nonsynonymous SNV ENSG00000149531:ENST00000278882:exon5:c.A179G:p.H60R,ENSG00000149531:ENST00000358464:exon5:c.A179G:p.H60R,ENSG00000149531:ENST00000439954:exon5:c.A194G:p.H65R Score=607;Name=lod=390 NA 20q11.21 NA NA NA NA rs62198354 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA 0.4974 NA 1 T 0.0 B 0.001 B 0.000 N 0.999 P . . 1.18 T -0.968 T 0.031 T 0.74 -2.807 0 0.695 0.267 5.229 6.505 -2.806684 NA 1 NA NA NA NA NA 8.0026 852 16 1272038 1272038 G A exonic TPSG1 NA nonsynonymous SNV TPSG1:NM_012467:exon6:c.C716T:p.T239I exonic ENSG00000116176 NA nonsynonymous SNV ENSG00000116176:ENST00000234798:exon6:c.C716T:p.T239I NA NA 16p13.3 NA NA NA NA rs11248860 0.87 0.87 0.881 0.877596 0.7714 0.998 0.8026 0.8956 0.8916 0.77 1 0.79 0.91 0.8069 1 1 T 0.0 B 0.0 B . . 1.000 P -3.05 N -2.51 D -0.942 T 0.000 T 0.23 -2.37 0.004 4.1 0.521 3.120 8.066 -2.36995 NA 1 0.753203 0.872545 ID=COSM434650;OCCURENCE=1(breast) 0.906 NA 8.0018304 852 5 72419456 72419456 C G exonic TMEM171 NA nonsynonymous SNV TMEM171:NM_001161342:exon2:c.C256G:p.R86G,TMEM171:NM_173490:exon2:c.C256G:p.R86G exonic ENSG00000157111 NA nonsynonymous SNV ENSG00000157111:ENST00000287773:exon2:c.C256G:p.R86G,ENSG00000157111:ENST00000454765:exon2:c.C256G:p.R86G NA NA 5q13.2 NA NA Name=4 NA rs637450 0.41 0.41 0.399 0.438299 0.2654 0.5933 0.3285 0.5325 0.407 0.26 0.57 0.35 0.51 0.3196 0.57 0.08 T 0.462 P 0.151 B 0.714 N 1.000 P 0.975 L 1.83 T -0.932 T 0.000 T 0.207 0.897 8.646 -0.798 -0.053 0.482 8.079 0.897133 NA 0.07 0.247093 0.496142 NA 0.355 NA 8.0012404 852 1 144879264 144879264 A G exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon27:c.T4186C:p.W1396R,ENSG00000178104:ENST00000369356:exon27:c.T4186C:p.W1396R,ENSG00000178104:ENST00000313382:exon30:c.T4054C:p.W1352R,ENSG00000178104:ENST00000369359:exon30:c.T4594C:p.W1532R,ENSG00000178104:ENST00000530740:exon30:c.T4594C:p.W1532R Score=507;Name=lod=153 NA 1q21.1 Score=889;Name=V$NFKB_C NA NA NA rs2798901 0.76 0.76 0.717 0.710064 0.6451 0.9296 0.7248 0.5378 0.773 0.69 0.96 0.78 0.59 0.6879 0.96 0.82 T 0.0 B 0.0 B . . 0.000 P -1.995 N 5.15 T -1.062 T 0.000 T 0.166 -0.587 1.368 -0.119 -0.204 0.849 6.453 -0.586922 NA 1 NA NA NA 0.732 NA 8.0003334 852 1 40183755 40183755 T C intergenic HPCAL4,PPIE dist=26666;dist=20762 NA NA ncRNA_exonic ENSG00000225333 NA NA NA Score=702;Name=lod=954 NA 1p34.2 NA Name=CTCF,Rad21 Name=2 NA NA NA NA NA 0.000599042 NA NA 0.0043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.180252 NA NA NA NA NA NA NA 8 852 11 121109213 121109213 A G intergenic TECTA,SC5D dist=47698;dist=54175 NA NA ncRNA_exonic ENSG00000254515 NA NA NA Score=694;Name=lod=878 NA 11q23.3 NA Name=MEF2A Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255401 NA NA NA NA NA NA NA 8 852 17 16722362 16722362 C T intergenic USP32P1,KRT16P2 dist=14543;dist=11435 NA NA ncRNA_exonic ENSG00000226145 NA NA NA Score=663;Name=lod=657 NA 17p11.2 Score=816;Name=V$AP4_01 Name=CTCF,CTCFL_(SC-98982) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213933 NA NA NA NA NA NA NA 8 852 1 151282640 151282640 G A intronic PI4KB NA NA NA intronic ENSG00000143393 NA NA NA Score=505;Name=lod=151 NA 1q21.3 NA Name=CTCF Name=74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004744 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.878022 1.878022 NA NA NA NA NA NA 7.9999526 852 7 100608779 100608779 C T intergenic ACHE,MUC12 dist=115238;dist=4125 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000422757:exon6:c.C628T:p.L210L,ENSG00000169894:ENST00000319509:exon7:c.C2158T:p.L720L Score=358;Name=lod=38 NA 7q22.1 NA Name=ETS1,GABP,CTCF,Rad21,USF-1 Name=5 NA rs73163793 NA NA NA 0.000998403 0.001 NA 0.0014 0.0023 NA NA NA NA NA 0.5001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001073 NA 0.02 NA NA NA NA CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000067537.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 7.9989 852 19 18376407 18376407 T A exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.A1943T:p.Y648F,KIAA1683:NM_001145305:exon3:c.A1805T:p.Y602F,KIAA1683:NM_025249:exon3:c.A1943T:p.Y648F exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.A1943T:p.Y648F,ENSG00000130518:ENST00000600328:exon3:c.A1943T:p.Y648F,ENSG00000130518:ENST00000600359:exon3:c.A1805T:p.Y602F NA NA 19p13.11 NA NA NA NA rs8110972 0.53 0.53 0.525 0.544129 0.4294 0.5516 0.5908 0.6929 0.4202 0.43 0.52 0.53 0.69 0.4796 0.69 0.63 T 0.002 B 0.003 B 0.431 N 1.000 P 0.755 N 3.62 T -0.955 T 0.000 T 0.066 0.644 7.458 -8.1 -1.462 -0.546 0.460 0.644115 NA 0.2 0.425814 0.671811 NA 0.5 NA 7.9985194 852 1 21940555 21940555 C T exonic RAP1GAP NA nonsynonymous SNV RAP1GAP:NM_001145658:exon8:c.G511A:p.A171T,RAP1GAP:NM_002885:exon8:c.G319A:p.A107T,RAP1GAP:NM_001145657:exon9:c.G319A:p.A107T exonic ENSG00000076864 NA nonsynonymous SNV ENSG00000076864:ENST00000374763:exon5:c.G319A:p.A107T,ENSG00000076864:ENST00000374761:exon6:c.G412A:p.A138T,ENSG00000076864:ENST00000290101:exon8:c.G511A:p.A171T,ENSG00000076864:ENST00000359708:exon8:c.G511A:p.A171T,ENSG00000076864:ENST00000374765:exon8:c.G319A:p.A107T,ENSG00000076864:ENST00000471600:exon8:c.G319A:p.A107T,ENSG00000076864:ENST00000495204:exon8:c.G319A:p.A107T,ENSG00000076864:ENST00000542643:exon9:c.G319A:p.A107T NA NA 1p36.12 NA NA NA NA rs2275363 0.4 0.4 0.44 0.392971 0.4443 0.4196 0.2781 0.3646 0.4325 0.45 0.45 0.3 0.35 0.4351 0.46 0.53 T 0.001 B 0.002 B 0.247 N 1.000 P 1.65 L -3.27 D -1.021 T 0.000 T 0.122 1.498 10.96 -1.45 -0.517 -1.035 10.547 1.498257 1.498257 0.45 0.455698 0.366319 NA 0.348 NA 7.9982354 852 10 25888180 25888180 A G exonic GPR158 NA nonsynonymous SNV GPR158:NM_020752:exon11:c.A3625G:p.I1209V exonic ENSG00000151025 NA nonsynonymous SNV ENSG00000151025:ENST00000376351:exon11:c.A3625G:p.I1209V NA NA 10p12.1 NA NA NA NA rs10828833 0.64 0.64 0.643 0.663538 0.3956 0.7579 0.5144 0.9652 0.5399 0.41 0.76 0.55 0.95 0.5157 0.95 1 T 0.0 B 0.0 B 0.255 N 1.000 P -0.345 N 0.29 T -0.958 T 0.000 T 0.015 -1.856 0.009 3.1 0.136 2.214 10.728 -1.856044 NA 1 0.424168 0.866773 NA 0.536 NA 7.9978654 852 15 89400339 89400339 A C exonic ACAN NA nonsynonymous SNV ACAN:NM_001135:exon12:c.A4523C:p.E1508A,ACAN:NM_013227:exon12:c.A4523C:p.E1508A exonic ENSG00000157766 NA nonsynonymous SNV ENSG00000157766:ENST00000561243:exon11:c.A4523C:p.E1508A,ENSG00000157766:ENST00000352105:exon12:c.A4523C:p.E1508A,ENSG00000157766:ENST00000439576:exon12:c.A4523C:p.E1508A,ENSG00000157766:ENST00000559004:exon12:c.A4523C:p.E1508A NA NA 15q26.1 NA NA NA NA rs2882676 0.43 0.43 0.418 0.424121 0.6521 0.25 0.3804 0.3396 0.5143 0.67 0.21 0.46 0.32 0.5348 0.67 0.35 T 0.58 P 0.304 B . . 1.000 P . . -3.51 D -0.995 T 0.000 T 0.113 -0.376 2.232 -2.06 -0.544 0.825 5.408 -0.375823 NA 0.16 0.649183 0.392991 NA 0.471 NA 7.9972504 852 20 1616137 1616137 G A exonic SIRPG NA nonsynonymous SNV SIRPG:NM_018556:exon4:c.C857T:p.S286L exonic ENSG00000089012 NA nonsynonymous SNV ENSG00000089012:ENST00000303415:exon4:c.C857T:p.S286L,ENSG00000089012:ENST00000381580:exon4:c.C758T:p.S253L Score=289;Name=lod=20 NA 20p13 NA NA NA NA rs6034239 0.55 0.55 0.551 0.595647 0.4254 0.6369 0.4236 0.7625 0.6247 0.43 0.6 0.45 0.77 0.4991 0.77 1 T 0.0 B 0.0 B 0.049 N 0.000 P -3.025 N 6.47 T -1.040 T 0.000 T 0.065 -1.25 0.051 1.6 0.090 1.384 3.570 -1.249973 NA 1 0.411628 0.726509 NA 0.551 NA 7.9972054 852 4 100870611 100870611 C G intronic H2AFZ NA NA NA intronic ENSG00000164032 NA NA NA Score=295;Name=lod=21 NA 4q23 NA Name=Max,USF-1,Pol2(b),USF1_(SC-8983),Pol2 Name=56 NA NA NA NA NA 0.000798722 0.002 NA 0.0029 NA NA NA NA NA NA 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499734 1.499734 NA NA NA NA NA NA 7.9972 852 8 95188850 95188850 T C exonic CDH17 NA nonsynonymous SNV CDH17:NM_001144663:exon5:c.A343G:p.K115E,CDH17:NM_004063:exon5:c.A343G:p.K115E exonic ENSG00000079112 NA nonsynonymous SNV ENSG00000079112:ENST00000027335:exon5:c.A343G:p.K115E,ENSG00000079112:ENST00000441892:exon5:c.A343G:p.K115E,ENSG00000079112:ENST00000450165:exon5:c.A343G:p.K115E,ENSG00000079112:ENST00000521491:exon6:c.A343G:p.K115E Score=489;Name=lod=130 NA 8q22.1 NA NA NA NA rs2243518 0.77 0.77 0.754 0.802316 0.7753 0.6359 0.7752 0.9531 0.817 0.77 0.61 0.77 0.95 0.7754 0.95 0.68 T 0.0 B 0.001 B 0.000 N 0.996 P -0.285 N 4.67 T -0.960 T 0.000 T 0.377 0.481 6.612 4.12 1.546 0.537 4.333 0.481388 NA 0.78 0.78593 0.920109 NA 0.841 NA 7.9967034 852 17 6690161 6690161 C T exonic FBXO39 NA synonymous SNV FBXO39:NM_153230:exon3:c.C1086T:p.I362I exonic ENSG00000177294 NA synonymous SNV ENSG00000177294:ENST00000321535:exon3:c.C1086T:p.I362I Score=536;Name=lod=201 NA 17p13.1 NA Name=c-Jun,c-Fos,Pol2,CTCF Name=101 NA rs17853331 0.32 0.32 0.318 0.308307 0.2038 0.5823 0.3026 0.1944 0.2914 0.2 0.62 0.26 0.21 0.2561 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22049 NA NA 0.211279 0.191557 NA 0.246 NA 7.9954876 852 19 49658367 49658367 C T exonic HRC NA nonsynonymous SNV HRC:NM_002152:exon1:c.G128A:p.S43N exonic ENSG00000130528 NA nonsynonymous SNV ENSG00000130528:ENST00000252825:exon1:c.G128A:p.S43N,ENSG00000130528:ENST00000595625:exon1:c.G128A:p.S43N NA NA 19q13.33 NA Name=ELF1_(SC-631),CHD2_(N-1250),E2F6_(H-50),TAF1,HMGN3,GABP,HEY1,c-Myc,ZBTB7A_(SC-34508),MafK_(ab50322),TBP,YY1 Name=5 NA rs3745298 0.44 0.44 0.397 0.471645 0.4274 0.3105 0.5072 0.6029 0.4806 0.42 0.31 0.55 0.56 0.459 0.57 1 T 0.0 B 0.0 B . . 1.000 P -1.67 N 3.21 T -0.963 T 0.000 T 0.014 -2.384 0.004 0.99 -0.153 0.529 2.545 -2.383829 NA 1 0.451512 0.567862 NA 0.428 NA 7.9954214 852 4 146653620 146653620 G A exonic C4orf51 NA nonsynonymous SNV C4orf51:NM_001080531:exon6:c.G517A:p.D173N exonic ENSG00000237136 NA nonsynonymous SNV ENSG00000237136:ENST00000438731:exon6:c.G517A:p.D173N NA NA 4q31.21 NA NA NA NA rs10008599 0.09 0.09 0.082 0.0770767 0.1183 0.001 0.0778 0.1362 0.0327 0.12 0.0017 0.09 0.13 0.0981 0.13 0 D 0.059 B 0.008 B . . 1.000 P 0.695 N . . -1.052 T 0.001 T 0.086 3.046 16.17 -0.356 -0.097 -0.031 2.384 3.04614 3.04614 0 0.12157 0.120234 NA 0.072 NA 7.9953634 852 14 50472405 50472405 G A exonic C14orf182 NA nonsynonymous SNV C14orf182:NM_001012706:exon1:c.C113T:p.P38L exonic ENSG00000214900 NA nonsynonymous SNV ENSG00000214900:ENST00000399206:exon1:c.C113T:p.P38L NA NA 14q21.3 NA NA NA NA rs6572635 0.25 0.25 0.256 0.295727 0.2773 0.124 0.317 0.3873 0.3528 0.27 0.14 0.29 0.34 0.2933 0.37 0 D 0.552 P 0.096 B . . 1.000 P . . 0.01 T -1.001 T 0.000 T 0.047 1.386 10.57 1.72 0.492 0.925 4.361 1.385916 1.385916 0 0.267431 0.372919 NA 0.217 NA 7.9953024 852 10 96039597 96039597 G C exonic PLCE1 NA nonsynonymous SNV PLCE1:NM_001165979:exon19:c.G3800C:p.R1267P,PLCE1:NM_016341:exon20:c.G4724C:p.R1575P exonic ENSG00000138193 NA nonsynonymous SNV ENSG00000138193:ENST00000371375:exon19:c.G3800C:p.R1267P,ENSG00000138193:ENST00000371380:exon19:c.G4724C:p.R1575P,ENSG00000138193:ENST00000371385:exon19:c.G3800C:p.R1267P,ENSG00000138193:ENST00000260766:exon20:c.G4724C:p.R1575P NA NA 10q23.33 Score=805;Name=V$IRF7_01 NA NA NA rs2274224 0.47 0.47 0.506 0.486222 0.4563 0.5377 0.3487 0.5893 0.4223 0.43 0.49 0.37 0.57 0.4378 0.58 0.38 T 0.0 B 0.0 B 0.165 N 1.000 P -0.345 N 1.92 T -0.950 T 0.000 T 0.067 -0.225 2.913 4.64 0.920 0.795 6.471 -0.224866 NA 0.46 0.443945 0.545407 NA 0.5 NA 7.9952884 853 19 54783375 54783375 T A exonic LILRB2 NA nonsynonymous SNV LILRB2:NM_001080978:exon5:c.A483T:p.E161D,LILRB2:NM_005874:exon5:c.A483T:p.E161D exonic ENSG00000131042 NA nonsynonymous SNV ENSG00000131042:ENST00000391746:exon4:c.A483T:p.E161D,ENSG00000131042:ENST00000434421:exon4:c.A135T:p.E45D,ENSG00000131042:ENST00000314446:exon5:c.A483T:p.E161D,ENSG00000131042:ENST00000391748:exon5:c.A483T:p.E161D,ENSG00000131042:ENST00000391749:exon5:c.A483T:p.E161D NA NA 19q13.42 NA NA NA NA rs373032 0.81 0.81 0.857 0.844649 0.7634 0.9147 0.8501 0.9554 0.7025 0.72 0.91 0.78 0.84 0.8001 0.94 1 T 0.0 B 0.0 B 0.083 N 1.000 P -1.05 N 5.76 T -0.961 T 0.000 T 0.182 -1.153 0.101 -5.16 -1.380 -2.615 0.905 -1.152674 NA 1 0.775012 0.943713 NA 0.841 NA 7.9948214 853 14 45650900 45650900 A G exonic FANCM NA nonsynonymous SNV FANCM:NM_020937:exon16:c.A4378G:p.I1460V exonic ENSG00000187790 NA nonsynonymous SNV ENSG00000187790:ENST00000556250:exon9:c.A2926G:p.I976V,ENSG00000187790:ENST00000542564:exon15:c.A4300G:p.I1434V,ENSG00000187790:ENST00000267430:exon16:c.A4378G:p.I1460V NA NA 14q21.2 NA Name=c-Fos NA NA rs78211950 0.09 0.09 0.081 0.101438 0.1153 0.1181 0.1081 0.0068 0.1933 0.13 0.12 0.09 0.01 0.12 0.13 0.5 T 0.039 B 0.011 B 0.467 N 1.000 P 0 N 3.07 T -1.016 T 0.000 T 0.06 -1.783 0.01 -1.19 -0.054 -0.191 0.810 -1.782821 NA 1 0.103284 0.022923 NA 0.101 NA 7.9947494 853 19 18305824 18305824 C T exonic MPV17L2 NA synonymous SNV MPV17L2:NM_032683:exon4:c.C492T:p.P164P exonic ENSG00000254858 NA nonsynonymous SNV ENSG00000254858:ENST00000534474:exon3:c.C415T:p.P139S Score=581;Name=lod=307 NA 19p13.11 NA Name=Nrf1 Name=84 NA rs2271881 0.25 0.25 0.269 0.244808 0.3539 0.0685 0.3184 0.2708 0.227 0.35 0.07 0.32 0.27 0.3024 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.622908 1.622908 0 0.350511 0.26949 NA 0.29 NA 7.993189 853 9 8486355 8486355 G A intronic PTPRD NA NA NA intronic ENSG00000153707 NA NA NA Score=506;Name=lod=152 NA 9p24.1 Score=759;Name=V$STAT1_01 Name=Rad21,CTCF Name=60 NA rs183119115 0.0014 0.0014 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0026 NA 0.0028 NA 0.002 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721811 NA NA 0.00314 0.000454 NA 0.014 NA 7.99286 853 11 17809639 17809639 C T exonic SERGEF NA nonsynonymous SNV SERGEF:NM_012139:exon11:c.G1370A:p.G457E exonic ENSG00000129158 NA nonsynonymous SNV ENSG00000129158:ENST00000265965:exon11:c.G1370A:p.G457E NA NA 11p15.1 NA NA NA NA rs10788 0.1 0.1 0.093 0.127196 0.1233 0.002 0.0663 0.2156 0.184 0.13 0.0017 0.07 0.18 0.1082 0.18 0.04 D 0.0 B 0.001 B 0.748 N 1.000 P 0.805 L 0.77 T -1.054 T 0.000 T 0.094 3.259 16.93 -0.839 -0.059 -0.662 5.124 3.259426 3.259426 0 0.109131 0.174318 NA 0.109 NA 7.9927024 853 11 6789294 6789294 G C exonic OR2AG2 NA nonsynonymous SNV OR2AG2:NM_001004490:exon1:c.C895G:p.R299G exonic ENSG00000188124 NA nonsynonymous SNV ENSG00000188124:ENST00000338569:exon1:c.C895G:p.R299G NA NA 11p15.4 NA NA NA NA rs7924459 0.19 0.19 0.207 0.25619 0.1024 0.1538 0.0836 0.4887 0.3282 0.11 0.13 0.1 0.47 0.1439 0.47 1 T 0.0 B 0.0 B 0.003 N 1.000 P 0.04 N 1.1 T -0.920 T 0.000 T 0.038 -3.319 0.001 2.45 0.364 -0.617 8.264 -3.318776 NA 1 0.09602 0.42617 NA 0.283 NA 7.9910134 853 3 42733468 42733468 T C exonic KLHL40 NA nonsynonymous SNV KLHL40:NM_152393:exon6:c.T1849C:p.C617R exonic ENSG00000157119 NA nonsynonymous SNV ENSG00000157119:ENST00000287777:exon6:c.T1849C:p.C617R Score=519;Name=lod=171 NA 3p22.1 NA NA NA NA rs123509 0.88 0.88 0.891 0.89976 0.7714 0.998 0.8689 0.9448 0.8916 0.77 1 0.86 0.94 0.8168 1 1 T 0.0 B 0.0 B 0.000 N 0.009 P -1.895 N -0.36 T -0.961 T 0.000 T 0.11 -2.547 0.003 3.29 0.685 1.237 7.379 -2.546536 NA 1 0.754302 0.904448 NA 0.899 NA 7.9908314 853 5 140725828 140725828 C T exonic PCDHGA3 NA nonsynonymous SNV PCDHGA3:NM_018916:exon1:c.C2228T:p.A743V,PCDHGA3:NM_032011:exon1:c.C2228T:p.A743V exonic ENSG00000254245 NA nonsynonymous SNV ENSG00000254245:ENST00000253812:exon1:c.C2228T:p.A743V Score=522;Name=lod=176 NA 5q31.3 NA NA NA NA rs7736541 0.53 0.53 0.493 0.540935 0.4274 0.3264 0.6297 0.8495 0.3988 0.45 0.34 0.61 0.8 0.4794 0.8 1 T 0.0 B 0.001 B 0.392 N 0.000 P -3.215 N 1.0 T -0.945 T 0.000 T 0.012 0.07 4.381 4.14 0.399 0.472 5.563 0.070226 NA 1 0.437326 0.79369 NA 0.565 NA 7.9892074 853 19 51919998 51919998 T C exonic SIGLEC10 NA nonsynonymous SNV SIGLEC10:NM_001171156:exon3:c.A454G:p.N152D,SIGLEC10:NM_001171157:exon3:c.A628G:p.N210D,SIGLEC10:NM_001171158:exon3:c.A484G:p.N162D,SIGLEC10:NM_001171159:exon3:c.A454G:p.N152D,SIGLEC10:NM_001171161:exon3:c.A454G:p.N152D,SIGLEC10:NM_033130:exon3:c.A628G:p.N210D exonic ENSG00000142512 NA nonsynonymous SNV ENSG00000142512:ENST00000529627:exon2:c.A70G:p.N24D,ENSG00000142512:ENST00000339313:exon3:c.A628G:p.N210D,ENSG00000142512:ENST00000353836:exon3:c.A628G:p.N210D,ENSG00000142512:ENST00000356298:exon3:c.A628G:p.N210D,ENSG00000142512:ENST00000436984:exon3:c.A484G:p.N162D,ENSG00000142512:ENST00000439889:exon3:c.A454G:p.N152D,ENSG00000142512:ENST00000441969:exon3:c.A454G:p.N152D,ENSG00000142512:ENST00000442846:exon3:c.A454G:p.N152D,ENSG00000142512:ENST00000525998:exon3:c.A628G:p.N210D,ENSG00000142512:ENST00000530476:exon3:c.A529G:p.N177D NA NA 19q13.41 NA NA NA NA rs61741677 0.06 0.06 0.042 0.0838658 0.1233 0.0645 0.0793 0.0325 0.136 0.09 0.04 0.07 0.01 0.1065 0.11 0.63 T 0.012 B 0.012 B 0.172 N 1.000 P 0.09 N -1.02 T -0.982 T 0.011 T 0.089 0.709 7.781 -0.23 -0.499 -1.379 7.973 0.709455 NA 0.81 0.114419 0.036314 NA 0.051 NA 7.9891144 853 19 37038092 37038092 T C exonic ZNF529 NA synonymous SNV ZNF529:NM_001145650:exon5:c.A1314G:p.G438G,ZNF529:NM_020951:exon5:c.A1368G:p.G456G,ZNF529:NM_001145649:exon6:c.A1368G:p.G456G exonic ENSG00000186020 NA synonymous SNV ENSG00000186020:ENST00000591340:exon5:c.A1368G:p.G456G,ENSG00000186020:ENST00000334116:exon6:c.A1053G:p.G351G Score=300;Name=lod=22 NA 19q13.12 NA Name=KAP1,SETDB1 Name=56 NA rs2278168 0.23 0.23 0.218 0.22504 0.2425 0.1756 0.1916 0.2791 0.2086 0.25 0.18 0.2 0.26 0.2187 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76469 NA NA 0.216437 0.2529 NA 0.297 NA 7.9890296 853 15 89398605 89398605 G T exonic ACAN NA nonsynonymous SNV ACAN:NM_001135:exon12:c.G2789T:p.S930I,ACAN:NM_013227:exon12:c.G2789T:p.S930I exonic ENSG00000157766 NA nonsynonymous SNV ENSG00000157766:ENST00000561243:exon11:c.G2789T:p.S930I,ENSG00000157766:ENST00000352105:exon12:c.G2789T:p.S930I,ENSG00000157766:ENST00000439576:exon12:c.G2789T:p.S930I,ENSG00000157766:ENST00000559004:exon12:c.G2789T:p.S930I NA NA 15q26.1 NA NA NA NA rs938608 0.46 0.46 0.471 0.452676 0.6531 0.2421 0.3919 0.4463 0.5153 0.67 0.2 0.47 0.43 0.543 0.67 0.44 T 0.967 D 0.84 P 0.741 N 1.000 P 1.845 L 4.52 T -0.957 T 0.000 T 0.082 1.434 10.74 -3.45 -0.466 -0.823 1.909 1.43407 1.43407 0.37 0.648511 0.486849 ID=COSM146361;OCCURENCE=1(stomach) 0.464 NA 7.9887224 853 4 2307121 2307121 G A exonic ZFYVE28 NA nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.C856T:p.P286S,ZFYVE28:NM_001172659:exon8:c.C736T:p.P246S,ZFYVE28:NM_020972:exon8:c.C946T:p.P316S exonic ENSG00000159733 NA nonsynonymous SNV ENSG00000159733:ENST00000511071:exon7:c.C856T:p.P286S,ENSG00000159733:ENST00000290974:exon8:c.C946T:p.P316S,ENSG00000159733:ENST00000515312:exon8:c.C736T:p.P246S NA NA 4p16.3 Score=765;Name=V$PAX5_02 NA NA NA rs61742112 0.06 0.06 0.063 0.0421326 0.1272 NA 0.0663 0.0091 0.0256 0.13 NA 0.1 0.02 0.0891 0.13 0.22 T 0.003 B 0.007 B 0.015 N 0.002 P 1.5 L 0.37 T -1.099 T 0.001 T 0.065 -0.262 2.74 1.12 0.007 0.232 3.656 -0.262423 NA 0.28 0.128781 0.027009 NA 0.051 NA 7.9882524 853 13 21063524 21063524 A G exonic CRYL1 NA synonymous SNV CRYL1:NM_015974:exon3:c.T261C:p.G87G exonic ENSG00000165475 NA synonymous SNV ENSG00000165475:ENST00000298248:exon3:c.T261C:p.G87G,ENSG00000165475:ENST00000382812:exon4:c.T195C:p.G65G Score=422;Name=lod=69 NA 13q12.11 NA Name=CTCF,Rad21,SMC3_(ab9263),TCF12,CTCF_(C-20),Pbx3,CTCF_(SC-5916) Name=34 NA rs14236 0.25 0.25 0.262 0.270367 0.2217 0.1389 0.1988 0.5008 0.1953 0.23 0.1 0.23 0.48 0.2292 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162119 NA NA 0.227772 0.419259 NA 0.399 NA 7.9879946 853 12 121435475 121435475 G A intronic HNF1A NA NA NA exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000535955:exon2:c.G224A:p.R75H,ENSG00000135100:ENST00000538626:exon2:c.G254A:p.R85H,ENSG00000135100:ENST00000400024:exon7:c.G1508A:p.R503H NA NA 12q24.31 NA NA NA NA rs2464195 0.37 0.37 0.352 0.359625 0.3777 0.4802 0.3963 0.1263 0.5061 0.37 0.52 0.42 0.14 0.4347 0.52 0.15 T 0.0 B 0.001 B . . 1.000 P . . . . -1.027 T 0.000 T . -0.974 0.301 -8.98 -3.672 -0.240 13.207 -0.97384 NA 0.02 0.366364 0.141171 NA 0.319 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117228.3|RCV000125375.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.9879027 853 2 220100787 220100787 C T exonic ANKZF1 NA nonsynonymous SNV ANKZF1:NM_001042410:exon13:c.C2027T:p.P676L,ANKZF1:NM_018089:exon13:c.C2027T:p.P676L exonic ENSG00000163516 NA nonsynonymous SNV ENSG00000163516:ENST00000409849:exon10:c.C1397T:p.P466L,ENSG00000163516:ENST00000323348:exon13:c.C2027T:p.P676L,ENSG00000163516:ENST00000410034:exon13:c.C2027T:p.P676L NA NA 2q35 NA NA NA NA rs2293079 0.08 0.08 0.077 0.076278 0.1163 0.0397 0.0951 0.0499 0.0951 0.11 0.04 0.12 0.06 0.1048 0.12 0.04 D 0.0 B 0.0 B 0.761 N 1.000 P 0.69 N 1.87 T -1.021 T 0.001 T 0.015 -0.472 1.822 0.449 0.260 -0.168 5.033 -0.472009 NA 0.06 0.12503 0.054041 NA 0.138 NA 7.9872034 853 19 9085958 9085958 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.T5857C:p.S1953P exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.T5857C:p.S1953P NA NA 19p13.2 NA NA NA NA rs1108380 0.15 0.15 0.134 0.146366 0.1252 0.1746 0.0965 0.1573 0.1595 0.12 0.16 0.11 0.19 0.1223 0.19 0 D 0.945 P 0.82 P . . . . 0 N 4.19 T -0.828 T 0.000 T 0.077 0.578 7.12 0.235 0.263 -0.580 . 0.577749 NA 0.28 0.09865 0.127212 NA 0.094 NA 7.9871834 853 3 48422235 48422235 T A exonic FBXW12 NA nonsynonymous SNV FBXW12:NM_001159927:exon7:c.T608A:p.V203D,FBXW12:NM_001159929:exon7:c.T761A:p.V254D,FBXW12:NM_207102:exon8:c.T818A:p.V273D exonic ENSG00000164049 NA nonsynonymous SNV ENSG00000164049:ENST00000436231:exon5:c.T347A:p.V116D,ENSG00000164049:ENST00000415155:exon7:c.T608A:p.V203D,ENSG00000164049:ENST00000445170:exon7:c.T761A:p.V254D,ENSG00000164049:ENST00000296438:exon8:c.T818A:p.V273D NA NA 3p21.31 NA NA NA NA rs6784322 0.37 0.37 0.368 0.353834 0.4702 0.3373 0.3703 0.3018 0.3098 0.46 0.33 0.37 0.27 0.4037 0.47 0.39 T 0.039 B 0.048 B 0.108 N 1.000 P -0.695 N 3.5 T -1.051 T 0.000 T 0.081 0.966 8.943 -6.75 -1.581 -0.749 2.717 0.966403 NA 0.15 0.472791 0.332501 NA 0.442 NA 7.9866424 853 16 1608082 1608082 A G exonic IFT140 NA synonymous SNV IFT140:NM_014714:exon19:c.T2253C:p.P751P exonic ENSG00000187535 NA synonymous SNV ENSG00000187535:ENST00000426508:exon19:c.T2253C:p.P751P Score=477;Name=lod=116 NA 16p13.3 Score=843;Name=V$TAL1BETAE47_01 NA NA NA rs2076436 0.31 0.31 0.324 0.347444 0.2087 0.3433 0.1844 0.5507 0.3354 0.22 0.32 0.22 0.53 0.2563 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232296 NA NA 0.216395 0.485448 ID=COSM148006;OCCURENCE=1(stomach) 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117258.2;CLNDSDB=.;CLNDSDBID=. 7.9852716 854 7 1482101 1482101 C G exonic MICALL2 NA nonsynonymous SNV MICALL2:NM_182924:exon7:c.G1438C:p.A480P exonic ENSG00000164877 NA nonsynonymous SNV ENSG00000164877:ENST00000405088:exon3:c.G802C:p.A268P,ENSG00000164877:ENST00000413446:exon6:c.G1312C:p.A438P,ENSG00000164877:ENST00000297508:exon7:c.G1438C:p.A480P NA NA 7p22.3 Score=842;Name=V$ELK1_01 NA NA NA rs12540098 0.21 0.21 0.191 0.206669 0.1054 0.0397 0.2925 0.4486 0.0951 0.11 0.06 0.27 0.47 0.1509 0.47 0.28 T 0.0 B 0.0 B 0.749 N 1.000 P -0.895 N 2.53 T -0.981 T 0.000 T 0.312 -1.717 0.011 0.38 -0.513 -0.597 3.708 -1.716954 NA 0.29 0.092674 0.37222 NA 0.239 NA 7.9843594 854 3 64142859 64142859 C T exonic PRICKLE2 NA synonymous SNV PRICKLE2:NM_198859:exon5:c.G579A:p.P193P exonic ENSG00000163637 NA synonymous SNV ENSG00000163637:ENST00000295902:exon5:c.G579A:p.P193P,ENSG00000163637:ENST00000564377:exon6:c.G747A:p.P249P NA NA 3p14.1 NA Name=GATA3_(SC-268),GATA-2 Name=5 NA rs17720698 0.19 0.19 0.195 0.184904 0.2525 0.0119 0.1282 0.295 0.1851 0.26 0.01 0.15 0.3 0.2022 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895512 NA NA 0.229419 0.267136 NA 0.268 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118060.2;CLNDSDB=.;CLNDSDBID=. 7.9825476 854 12 18234256 18234256 T C exonic RERGL NA nonsynonymous SNV RERGL:NM_024730:exon6:c.A487G:p.M163V exonic ENSG00000111404 NA nonsynonymous SNV ENSG00000111404:ENST00000538724:exon5:c.A484G:p.M162V,ENSG00000111404:ENST00000229002:exon6:c.A487G:p.M163V Score=481;Name=lod=120 NA 12p12.3 NA NA NA NA rs941048 0.08 0.08 0.07 0.0828674 0.1322 0.002 0.0793 0.1021 0.092 0.11 NA 0.1 0.1 0.0987 0.12 0.1 T 0.0 B 0.001 B 0.174 N 0.000 P -0.46 N -1.26 T -1.082 T 0.003 T 0.03 1.464 10.84 -0.171 0.353 0.052 0.394 1.463589 1.463589 0.99 0.120698 0.118248 NA 0.167 NA 7.9817354 854 8 143996539 143996539 T C exonic CYP11B2 NA nonsynonymous SNV CYP11B2:NM_000498:exon3:c.A518G:p.K173R exonic ENSG00000179142 NA nonsynonymous SNV ENSG00000179142:ENST00000323110:exon3:c.A518G:p.K173R NA NA 8q24.3 NA NA NA NA rs4539 0.36 0.36 0.275 0.346446 0.4841 0.2867 0.4697 0.1876 0.3937 0.48 0.31 0.43 0.19 0.4189 0.48 0.9 T 0.0 B 0.001 B 0.894 N 1.000 P 0.6 N -0.24 T -0.999 T 0.000 T 0.012 -1.971 0.007 -4.17 -1.541 -0.668 6.526 -1.971021 NA 0.63 0.448906 0.235588 NA NA NA 7.9814274 854 19 52033158 52033158 C T exonic SIGLEC6 NA nonsynonymous SNV SIGLEC6:NM_001177547:exon4:c.G676A:p.G226S,SIGLEC6:NM_198845:exon4:c.G784A:p.G262S,SIGLEC6:NM_001177548:exon5:c.G865A:p.G289S,SIGLEC6:NM_001177549:exon5:c.G799A:p.G267S,SIGLEC6:NM_001245:exon5:c.G832A:p.G278S,SIGLEC6:NM_198846:exon5:c.G832A:p.G278S exonic ENSG00000105492 NA nonsynonymous SNV ENSG00000105492:ENST00000346477:exon4:c.G784A:p.G262S,ENSG00000105492:ENST00000436458:exon4:c.G676A:p.G226S,ENSG00000105492:ENST00000343300:exon5:c.G832A:p.G278S,ENSG00000105492:ENST00000359982:exon5:c.G865A:p.G289S,ENSG00000105492:ENST00000391797:exon5:c.G799A:p.G267S,ENSG00000105492:ENST00000425629:exon5:c.G832A:p.G278S Score=340;Name=lod=32 NA 19q13.41 NA NA NA NA rs35931837 0.08 0.08 0.048 0.0734824 0.1183 0.002 0.2363 0.0038 0.0798 0.14 NA 0.2 0.01 0.1246 0.2 1 T 0.024 B 0.004 B 0.043 N 0.936 P -0.325 N -1.29 T -1.088 T 0.000 T 0.36 -1.692 0.011 1.55 0.150 -0.302 5.337 -1.691978 NA 1 0.10907 0.02634 NA 0.043 NA 7.9813634 854 19 47282162 47282162 G A exonic SLC1A5 NA synonymous SNV SLC1A5:NM_001145145:exon4:c.C222T:p.Y74Y,SLC1A5:NM_001145144:exon5:c.C144T:p.Y48Y,SLC1A5:NM_005628:exon5:c.C828T:p.Y276Y exonic ENSG00000105281 NA synonymous SNV ENSG00000105281:ENST00000434726:exon4:c.C222T:p.Y74Y,ENSG00000105281:ENST00000594991:exon4:c.C300T:p.Y100Y,ENSG00000105281:ENST00000412532:exon5:c.C144T:p.Y48Y,ENSG00000105281:ENST00000542575:exon5:c.C828T:p.Y276Y Score=403;Name=lod=58 NA 19q13.32 NA Name=Pol2(b),GR Name=9 NA rs2070246 0.32 0.32 0.302 0.334065 0.2177 0.2629 0.4294 0.4463 0.3078 0.21 0.28 0.4 0.48 0.2614 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596646 NA NA 0.206744 0.430322 NA 0.333 NA 7.9808226 854 19 49621964 49621964 T C exonic C19orf73 NA nonsynonymous SNV C19orf73:NM_018111:exon1:c.A316G:p.S106G exonic ENSG00000221916 NA nonsynonymous SNV ENSG00000221916:ENST00000408991:exon1:c.A316G:p.S106G NA NA 19q13.33 NA Name=TAF1,Pol2,NRSF,TCF4,BAF170,BAF155,Egr-1,Pol2-4H8,HEY1,TBP Name=104 NA rs2232003 0.7 0.7 0.683 0.698482 0.8022 0.5327 0.6614 0.7776 0.682 0.79 0.52 0.72 0.78 0.7543 0.8 0 D 0.0 B 0.0 B . . 1.000 P 0 N 0.59 T -1.018 T 0.000 T 0.014 1.258 10.1 0.441 -0.021 -0.111 3.870 1.258363 1.258363 NA 0.797233 0.745775 NA 0.768 NA 7.9796004 854 12 96292170 96292170 C G exonic CCDC38 NA nonsynonymous SNV CCDC38:NM_182496:exon7:c.G607C:p.V203L exonic ENSG00000165972 NA nonsynonymous SNV ENSG00000165972:ENST00000344280:exon7:c.G607C:p.V203L NA NA 12q23.1 NA Name=JunD NA NA rs75959092 0.06 0.06 0.052 0.0563099 0.1342 0.0278 0.0706 0.0045 0.0654 0.13 0.02 0.07 0.01 0.0949 0.13 0.83 T 0.08 B 0.046 B 0.017 N 0.992 P 0.865 L 3.17 T -0.943 T 0.000 T 0.039 0.35 5.9 0.671 0.055 -0.125 4.764 0.350137 NA 0.05 0.124767 0.02315 NA 0.036 NA 7.9794664 854 19 3551125 3551125 C T exonic MFSD12 NA synonymous SNV MFSD12:NM_001042680:exon2:c.G366A:p.T122T,MFSD12:NM_021731:exon2:c.G366A:p.T122T,MFSD12:NM_174983:exon2:c.G366A:p.T122T exonic ENSG00000161091 NA nonsynonymous SNV ENSG00000161091:ENST00000585814:exon2:c.G97A:p.A33T NA NA 19p13.3 Score=808;Name=V$PAX5_01 Name=Pol2 NA NA rs61733854 0.0023 0.0023 NA 0.00159744 0.007 NA 0.0014 NA NA 0.01 NA NA NA 0.0069 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060997 NA NA 0.006691 0.001705 NA NA NA 7.979409 854 10 105657363 105657363 C G exonic OBFC1 NA synonymous SNV OBFC1:NM_024928:exon7:c.G696C:p.V232V exonic ENSG00000107960 NA synonymous SNV ENSG00000107960:ENST00000369764:exon6:c.G696C:p.V232V,ENSG00000107960:ENST00000224950:exon7:c.G696C:p.V232V Score=272;Name=lod=17 NA 10q24.33 NA Name=CTCF Name=27 NA rs11191853 0.21 0.21 0.216 0.188099 0.2545 0.1577 0.2046 0.2035 0.1186 0.26 0.16 0.2 0.21 0.2004 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52495 NA NA 0.233372 0.217204 NA 0.159 NA 7.9783946 854 5 176636882 176636882 C T exonic NSD1 NA synonymous SNV NSD1:NM_022455:exon5:c.C1482T:p.C494C,NSD1:NM_172349:exon6:c.C675T:p.C225C exonic ENSG00000165671 NA synonymous SNV ENSG00000165671:ENST00000361032:exon2:c.C1173T:p.C391C,ENSG00000165671:ENST00000439151:exon5:c.C1482T:p.C494C,ENSG00000165671:ENST00000347982:exon6:c.C675T:p.C225C,ENSG00000165671:ENST00000354179:exon6:c.C675T:p.C225C Score=561;Name=lod=253 NA 5q35.3 NA NA Name=3 NA rs1363405 0.41 0.41 0.441 0.468051 0.1988 0.5298 0.3343 0.7693 0.3691 0.2 0.52 0.32 0.69 0.2999 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265803 NA NA 0.190116 0.674308 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082100.1;CLNDSDB=.;CLNDSDBID=. 7.9778506 854 1 234744250 234744250 G A exonic IRF2BP2 NA synonymous SNV IRF2BP2:NM_001077397:exon1:c.C991T:p.L331L,IRF2BP2:NM_182972:exon1:c.C991T:p.L331L exonic ENSG00000168264 NA synonymous SNV ENSG00000168264:ENST00000366609:exon1:c.C991T:p.L331L,ENSG00000168264:ENST00000366610:exon1:c.C991T:p.L331L Score=683;Name=lod=797 NA 1q42.3 NA Name=CTCF,CTCF_(C-20),Rad21,Sin3Ak-20,E2F6,Pol2-4H8,Pol2,CTCF_(SC-5916),Pol2(phosphoS2),SMC3_(ab9263),HMGN3,GATA-1,E2F6_(H-50) Name=148 NA rs8722 0.18 0.18 0.172 0.135783 0.2455 0.2034 0.1398 0.0129 0.1166 0.23 0.24 0.17 0.02 0.2129 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411443 1.411443 NA 0.230581 0.045207 NA 0.174 NA 7.9776856 854 19 9090182 9090182 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.A1633G:p.T545A exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.A1633G:p.T545A NA NA 19p13.2 NA NA NA NA rs17000957 0.16 0.16 0.144 0.157548 0.1262 0.1746 0.17 0.1604 0.1595 0.12 0.16 0.17 0.2 0.1304 0.2 0 D 0.334 B 0.039 B . . . . 0 N 4.35 T -0.902 T 0.000 T 0.034 0.187 5.007 -1.35 -0.480 -0.209 2.127 0.186913 NA 0 0.099762 0.128906 NA 0.094 NA 7.9769714 854 5 176721272 176721272 G C exonic NSD1 NA synonymous SNV NSD1:NM_022455:exon23:c.G6903C:p.G2301G,NSD1:NM_172349:exon24:c.G6096C:p.G2032G exonic ENSG00000165671 NA synonymous SNV ENSG00000165671:ENST00000361032:exon20:c.G6594C:p.G2198G,ENSG00000165671:ENST00000439151:exon23:c.G6903C:p.G2301G,ENSG00000165671:ENST00000347982:exon24:c.G6096C:p.G2032G,ENSG00000165671:ENST00000354179:exon24:c.G6096C:p.G2032G Score=422;Name=lod=69 NA 5q35.3 Score=914;Name=V$AP1_Q6 NA NA NA rs11740250 0.12 0.12 0.105 0.108027 0.2475 NA 0.1455 0.0106 0.181 0.25 NA 0.19 0.01 0.1915 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043522 NA NA 0.25093 0.041761 NA 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082139.1;CLNDSDB=.;CLNDSDBID=. 7.9767366 854 1 111957311 111957311 G C exonic OVGP1 NA nonsynonymous SNV OVGP1:NM_002557:exon11:c.C1812G:p.H604Q exonic ENSG00000085465 NA nonsynonymous SNV ENSG00000085465:ENST00000369732:exon11:c.C1812G:p.H604Q NA NA 1p13.2 NA NA NA NA rs10067 0.26 0.26 0.256 0.294928 0.1103 0.3919 0.1628 0.4539 0.2638 0.11 0.42 0.16 0.38 0.1649 0.42 0.02 D 0.005 B 0.005 B 0.000 N 1.000 P 0.345 N 3.7 T -0.918 T 0.004 T 0.027 0.421 6.288 0.215 0.059 -0.609 4.005 0.4212 NA 0.07 0.082442 0.385837 ID=COSM146579;OCCURENCE=1(stomach) 0.239 NA 7.9756914 855 22 18209920 18209920 C T exonic BCL2L13 NA nonsynonymous SNV BCL2L13:NM_001270733:exon2:c.C238T:p.P80S,BCL2L13:NM_001270727:exon5:c.C1006T:p.P336S,BCL2L13:NM_001270730:exon5:c.C592T:p.P198S,BCL2L13:NM_001270726:exon6:c.C1150T:p.P384S,BCL2L13:NM_001270729:exon6:c.C592T:p.P198S,BCL2L13:NM_001270731:exon6:c.C592T:p.P198S,BCL2L13:NM_015367:exon7:c.C1078T:p.P360S exonic ENSG00000099968 NA nonsynonymous SNV ENSG00000099968:ENST00000538149:exon4:c.C706T:p.P236S,ENSG00000099968:ENST00000337612:exon5:c.C592T:p.P198S,ENSG00000099968:ENST00000543133:exon6:c.C592T:p.P198S,ENSG00000099968:ENST00000317582:exon7:c.C1078T:p.P360S NA NA 22q11.21 NA NA Name=11 NA rs9306198 0.07 0.07 0.072 0.0513179 0.1352 NA 0.1009 0.0106 0.0378 0.13 NA 0.12 0.01 0.0938 0.13 0.14 T 0.01 B 0.003 B 0.447 N 1.000 P 1.245 L 2.07 T -1.068 T 0.001 T 0.062 2.139 13.11 -0.241 -0.023 0.300 5.835 2.138567 2.138567 0 0.130349 0.023831 NA 0.109 NA 7.9739844 855 9 100819192 100819192 C T exonic NANS NA synonymous SNV NANS:NM_018946:exon1:c.C102T:p.D34D exonic ENSG00000095380 NA synonymous SNV ENSG00000095380:ENST00000210444:exon1:c.C102T:p.D34D Score=691;Name=lod=858 NA 9q22.33 NA Name=HEY1,c-Myc,CCNT2,Pol2(b),YY1,Pol2-4H8,Sin3Ak-20,HA-E2F1,Oct-2,ETS1,HMGN3,POU2F2,Pol2 Name=68 NA rs3739670 0.28 0.28 0.29 0.391773 0.2068 0.124 0.2622 0.6778 0.5634 0.2 0.1 0.21 0.65 0.2911 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.005164 2.005164 NA 0.197371 0.615175 NA 0.283 NA 7.9713956 855 5 76734084 76734084 C T exonic WDR41 NA nonsynonymous SNV WDR41:NM_018268:exon10:c.G985A:p.V329I exonic ENSG00000164253 NA nonsynonymous SNV ENSG00000164253:ENST00000507654:exon4:c.G298A:p.V100I,ENSG00000164253:ENST00000414719:exon8:c.G223A:p.V75I,ENSG00000164253:ENST00000507029:exon8:c.G820A:p.V274I,ENSG00000164253:ENST00000515253:exon8:c.G790A:p.V264I,ENSG00000164253:ENST00000296679:exon10:c.G985A:p.V329I Score=477;Name=lod=116 NA 5q13.3 NA NA NA NA rs33204 0.5 0.5 0.507 0.528355 0.4205 0.4603 0.611 0.6362 0.5051 0.4 0.47 0.59 0.65 0.4881 0.65 0.22 T 0.001 B 0.001 B 0.003 N 1.000 P -0.21 N 0.14 T -0.911 T 0.000 T 0.204 -1.049 0.196 -2.41 -0.623 0.529 12.808 -1.048825 NA 1 0.453721 0.587835 NA 0.551 NA 7.9710124 855 10 135000159 135000159 A G exonic KNDC1 NA nonsynonymous SNV KNDC1:NM_152643:exon6:c.A1307G:p.E436G exonic ENSG00000171798 NA nonsynonymous SNV ENSG00000171798:ENST00000368571:exon5:c.A1112G:p.E371G,ENSG00000171798:ENST00000304613:exon6:c.A1307G:p.E436G,ENSG00000171798:ENST00000368572:exon6:c.A1307G:p.E436G NA NA 10q26.3 NA NA NA NA rs3810964 0.4 0.4 0.353 0.416933 0.4354 0.5774 0.3847 0.118 0.6595 0.46 0.59 0.37 0.11 0.4694 0.59 0.71 T 0.0 B 0.0 B 0.918 N 1.000 P -1.39 N 1.59 T -0.936 T 0.000 T 0.02 0.452 6.455 -5.95 -1.198 -0.407 2.448 0.452036 NA 0.93 0.457868 0.158864 NA 0.37 NA 7.9706654 855 6 150210681 150210681 G A exonic RAET1E NA nonsynonymous SNV RAET1E:NM_001243325:exon3:c.C317T:p.T106I,RAET1E:NM_001243327:exon3:c.C425T:p.T142I,RAET1E:NM_139165:exon3:c.C425T:p.T142I,RAET1E:NM_001243328:exon4:c.C425T:p.T142I exonic ENSG00000164520 NA nonsynonymous SNV ENSG00000164520:ENST00000357183:exon3:c.C425T:p.T142I,ENSG00000164520:ENST00000367363:exon3:c.C317T:p.T106I,ENSG00000164520:ENST00000392270:exon3:c.C319T:p.P107S,ENSG00000164520:ENST00000529948:exon3:c.C425T:p.T142I,ENSG00000164520:ENST00000532335:exon4:c.C425T:p.T142I NA NA 6q25.1 NA Name=STAT3,Pol2(phosphoS2),Pol2,c-Jun,JunD,p300_(N-15),GTF2F1_(RAP-74),CEBPB,TBP Name=19 NA rs9371533 0.65 0.65 0.643 0.685903 0.4324 0.8968 0.5447 0.8442 0.6155 0.42 0.88 0.55 0.81 0.5184 0.88 0.81 T 0.0 B 0.0 B 0.534 N 1.000 P -1.955 N 5.85 T -0.977 T 0.001 T 0.025 -0.073 3.644 -1.75 -0.637 0.847 4.443 -0.072921 NA 0.52 0.412093 0.789378 NA 0.746 NA 7.9704404 855 17 77081788 77081788 G A exonic ENGASE NA nonsynonymous SNV ENGASE:NM_001042573:exon13:c.G1787A:p.S596N exonic ENSG00000167280 NA nonsynonymous SNV ENSG00000167280:ENST00000579016:exon13:c.G1787A:p.S596N NA NA 17q25.3 NA NA NA NA rs4789879 0.09 0.09 0.067 0.0948482 0.1123 0.0387 0.1571 0.0552 0.1442 0.12 0.04 0.14 0.05 0.1257 0.14 1 T 0.001 B 0.003 B 0.070 N 0.968 P 0.255 N . . -1.047 T 0.000 T 0.008 -1.243 0.054 -3.02 -0.173 0.152 2.390 -1.242869 NA 0.7 0.125957 0.060197 NA 0.138 NA 7.9693764 855 3 141162185 141162185 T G exonic ZBTB38 NA nonsynonymous SNV ZBTB38:NM_001080412:exon8:c.T955G:p.S319A exonic ENSG00000177311 NA nonsynonymous SNV ENSG00000177311:ENST00000321464:exon2:c.T958G:p.S320A,ENSG00000177311:ENST00000441582:exon2:c.T955G:p.S319A,ENSG00000177311:ENST00000509883:exon3:c.T955G:p.S319A,ENSG00000177311:ENST00000514251:exon4:c.T955G:p.S319A NA NA 3q23 NA NA NA NA rs16851435 0.18 0.18 0.153 0.169129 0.1113 0.3095 0.2219 0.087 0.1575 0.1 0.34 0.2 0.09 0.1489 0.34 . . 0.018 B 0.015 B 0.312 N 1.000 P 0.55 N 3.39 T -0.904 T 0.000 T 0.042 -0.042 3.8 -2.59 -0.388 -0.438 11.451 -0.04187 NA 0.82 0.104841 0.097689 NA 0.08 NA 7.9682924 855 1 240492734 240492734 G A exonic FMN2 NA nonsynonymous SNV FMN2:NM_020066:exon10:c.G4403A:p.R1468H exonic ENSG00000155816 NA nonsynonymous SNV ENSG00000155816:ENST00000545751:exon3:c.G191A:p.R64H,ENSG00000155816:ENST00000319653:exon10:c.G4403A:p.R1468H Score=535;Name=lod=199 NA 1q43 NA NA NA NA rs3795677 0.32 0.32 0.326 0.320887 0.2883 0.3185 0.3588 0.3381 0.3067 0.3 0.34 0.35 0.32 0.3027 0.38 0.9 T 0.472 P 0.258 B 0.027 N 0.000 P 0.77 N 2.21 T -0.994 T 0.000 T 0.043 0.738 7.918 1.72 0.059 -0.225 11.889 0.737991 NA 0.06 0.274767 0.313209 NA 0.348 NA 7.9675664 855 17 72784932 72784932 G A exonic TMEM104 NA nonsynonymous SNV TMEM104:NM_017728:exon4:c.G172A:p.V58M exonic ENSG00000109066 NA nonsynonymous SNV ENSG00000109066:ENST00000335464:exon4:c.G172A:p.V58M,ENSG00000109066:ENST00000417024:exon4:c.G211A:p.V71M,ENSG00000109066:ENST00000582330:exon4:c.G172A:p.V58M,ENSG00000109066:ENST00000582773:exon4:c.G172A:p.V58M Score=435;Name=lod=78 NA 17q25.1 NA NA NA NA rs2016126 0.56 0.56 0.568 0.546326 0.6412 0.3968 0.5 0.6293 0.5235 0.63 0.42 0.57 0.62 0.5845 0.65 0.47 T 0.76 P 0.074 B 0.000 N 0.027 P -0.56 N 4.33 T -0.959 T 0.000 T 0.083 -1.139 0.111 -1.14 -0.099 2.575 9.669 -1.138711 NA 0.58 0.640233 0.648661 NA 0.551 NA 7.9674004 855 1 154919080 154919080 C T exonic PBXIP1 NA nonsynonymous SNV PBXIP1:NM_020524:exon10:c.G1070A:p.G357D exonic ENSG00000163346 NA nonsynonymous SNV ENSG00000163346:ENST00000539880:exon7:c.G551A:p.G184D,ENSG00000163346:ENST00000542459:exon7:c.G605A:p.G202D,ENSG00000163346:ENST00000368465:exon9:c.G983A:p.G328D,ENSG00000163346:ENST00000368463:exon10:c.G1070A:p.G357D NA NA 1q21.3 NA NA NA NA rs2061690 0.52 0.52 0.474 0.515974 0.4334 0.8958 0.6297 0.1498 0.6237 0.44 0.89 0.58 0.17 0.4977 0.89 0.61 T 0.087 B 0.063 B 0.002 N 1.000 P 1.1 L 2.69 T -0.965 T 0.009 T 0.084 -0.033 3.845 3.57 1.107 0.459 6.933 -0.032974 NA 0.24 0.434884 0.202678 NA 0.449 NA 7.9673494 855 6 31106459 31106459 C A exonic PSORS1C1 NA nonsynonymous SNV PSORS1C1:NM_014068:exon5:c.C70A:p.P24T exonic ENSG00000204540 NA nonsynonymous SNV ENSG00000204540:ENST00000259881:exon5:c.C70A:p.P24T NA NA 6p21.33 NA NA NA NA rs1265097 0.12 0.12 0.101 0.112021 0.1312 0.0357 0.1974 0.1293 0.0869 0.13 0.04 0.22 0.12 0.1243 0.22 0 D 0.22 B 0.076 B . . 1.000 P 0 N 2.35 T -0.948 T 0.007 T 0.03 1.441 10.76 -0.431 -0.232 -0.724 3.389 1.440615 1.440615 0 0.112403 0.119788 NA 0.094 NA 7.9654304 856 4 113352397 113352397 G A exonic ALPK1 NA nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1460A:p.G487D,ALPK1:NM_001102406:exon11:c.G1694A:p.G565D,ALPK1:NM_025144:exon11:c.G1694A:p.G565D exonic ENSG00000073331 NA nonsynonymous SNV ENSG00000073331:ENST00000504176:exon10:c.G1460A:p.G487D,ENSG00000073331:ENST00000177648:exon11:c.G1694A:p.G565D,ENSG00000073331:ENST00000458497:exon11:c.G1694A:p.G565D NA NA 4q25 NA NA NA NA rs2074388 0.64 0.64 0.652 0.627396 0.6173 0.6369 0.5576 0.7239 0.547 0.63 0.66 0.55 0.7 0.622 0.7 0.29 T 0.996 D 0.801 P 0.424 N 1.000 P 1.995 M 4.38 T -1.097 T 0.000 T 0.474 2.279 13.58 1.76 0.195 0.724 7.727 2.279331 2.279331 0.09 0.630233 0.699955 NA 0.609 NA 7.9638004 856 19 49116438 49116438 A G exonic FAM83E NA synonymous SNV FAM83E:NM_017708:exon1:c.T192C:p.V64V exonic ENSG00000105523 NA synonymous SNV ENSG00000105523:ENST00000263266:exon1:c.T192C:p.V64V Score=325;Name=lod=28 NA 19q13.33 NA Name=Pol2 Name=5 NA rs376524 0.34 0.34 0.313 0.334265 0.2147 0.4702 0.4251 0.3298 0.2587 0.21 0.51 0.35 0.35 0.286 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064839 NA NA 0.203052 0.277804 ID=COSM1395073;OCCURENCE=1(large_intestine) 0.319 NA 7.9629146 856 1 11728894 11728894 G A exonic FBXO6 NA nonsynonymous SNV FBXO6:NM_018438:exon2:c.G179A:p.R60Q exonic ENSG00000116663 NA nonsynonymous SNV ENSG00000116663:ENST00000376753:exon2:c.G179A:p.R60Q NA NA 1p36.22 NA NA NA NA rs3125818 0.11 0.11 0.094 0.136382 0.1173 0.1498 0.1758 0.0726 0.2004 0.11 0.13 0.17 0.06 0.1398 0.17 0.48 T 0.357 B 0.106 B 0.000 N 0.999 P 1.425 L 0.79 T -1.049 T 0.000 T 0.302 0.587 7.166 -3.48 -0.548 -0.088 5.820 0.586706 NA 0.42 0.113372 0.081934 NA 0.152 NA 7.9628614 856 1 145109661 145109661 G A exonic SEC22B NA unknown UNKNOWN ncRNA_exonic ENSG00000223380 NA NA NA Score=669;Name=lod=697 NA 1q21.1 Score=833;Name=V$GR_Q6 Name=BDP1 Name=8 NA rs2655551 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4969 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.209904 3.209904 NA 0.37386 0.396673 NA 0.449 NA 7.9625733 856 18 9887936 9887936 G C exonic TXNDC2 NA nonsynonymous SNV TXNDC2:NM_001098529:exon2:c.G1460C:p.R487T,TXNDC2:NM_032243:exon2:c.G1259C:p.R420T exonic ENSG00000168454 NA nonsynonymous SNV ENSG00000168454:ENST00000306084:exon2:c.G1460C:p.R487T,ENSG00000168454:ENST00000357775:exon2:c.G1259C:p.R420T NA NA 18p11.22 NA NA NA NA rs17805544 0.06 0.06 0.047 0.0389377 0.1402 NA 0.0519 0.003 0.0143 0.15 NA 0.05 0.0041 0.0933 0.15 . . 0.955 P 0.579 P 0.007 N 1.000 P -0.5 N 4.01 T -0.876 T 0.000 T 0.117 0.622 7.347 -1.97 -0.707 -0.041 9.745 0.622026 NA NA 0.138256 0.026782 NA NA NA 7.9615774 856 22 31536133 31536133 A C exonic PLA2G3 NA nonsynonymous SNV PLA2G3:NM_015715:exon1:c.T208G:p.S70A exonic ENSG00000100078 NA nonsynonymous SNV ENSG00000100078:ENST00000215885:exon1:c.T208G:p.S70A Score=278;Name=lod=18 NA 22q12.2 NA NA NA NA rs2232176 0.82 0.82 0.806 0.832069 0.7873 0.9325 0.8646 0.7231 0.8988 0.78 0.92 0.85 0.73 0.8103 0.92 0.88 T 0.0 B 0.0 B 0.889 N 1.000 P -1.355 N 2.75 T -1.025 T 0.000 T 0.014 -0.605 1.301 3.58 0.342 0.989 7.119 -0.605006 NA 1 0.777209 0.703586 ID=COSM1484160,COSM444888;OCCURENCE=2(breast) 0.797 NA 7.9585244 856 1 12835868 12835868 T C exonic PRAMEF12 NA nonsynonymous SNV PRAMEF12:NM_001080830:exon2:c.T470C:p.M157T exonic ENSG00000116726 NA nonsynonymous SNV ENSG00000116726:ENST00000357726:exon2:c.T470C:p.M157T NA NA 1p36.21 NA NA NA NA rs1812242 0.74 0.74 0.714 0.716454 0.7982 0.7183 0.8213 0.5696 0.7546 0.81 0.73 0.81 0.58 0.7739 0.81 0.56 T 0.0 B 0.0 B 0.017 N 1.000 P -2.24 N 5.51 T -0.995 T 0.000 T 0.008 -2.317 0.004 -2.39 -0.966 -1.543 5.42 -2.316973 NA 1 0.803488 0.606673 NA 0.674 NA 7.9577454 856 22 30700607 30700607 T G exonic TBC1D10A NA synonymous SNV TBC1D10A:NM_001204240:exon2:c.A243C:p.V81V,TBC1D10A:NM_031937:exon2:c.A222C:p.V74V exonic ENSG00000099992 NA synonymous SNV ENSG00000099992:ENST00000215790:exon2:c.A222C:p.V74V,ENSG00000099992:ENST00000403477:exon2:c.A243C:p.V81V,ENSG00000099992:ENST00000433426:exon2:c.A21C:p.V7V Score=684;Name=lod=800 NA 22q12.2 Score=892;Name=V$NFKB_Q6 NA Name=69 NA rs4823089 0.18 0.18 0.181 0.158147 0.2535 0.1448 0.1571 0.1384 0.1012 0.24 0.12 0.17 0.15 0.1992 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.266362 1.266362 NA 0.256744 0.154789 NA 0.283 NA 7.9572226 857 9 112900199 112900199 T C exonic AKAP2,PALM2-AKAP2 NA nonsynonymous SNV AKAP2:NM_001004065:exon2:c.T1949C:p.L650S,AKAP2:NM_001136562:exon2:c.T1682C:p.L561S,AKAP2:NM_001198656:exon2:c.T1949C:p.L650S,PALM2-AKAP2:NM_007203:exon8:c.T2375C:p.L792S,PALM2-AKAP2:NM_147150:exon8:c.T2375C:p.L792S exonic ENSG00000157654,ENSG00000241978 NA nonsynonymous SNV ENSG00000241978:ENST00000259318:exon2:c.T1682C:p.L561S,ENSG00000241978:ENST00000374525:exon2:c.T1949C:p.L650S,ENSG00000241978:ENST00000434623:exon2:c.T1949C:p.L650S,ENSG00000241978:ENST00000480388:exon2:c.T1829C:p.L610S,ENSG00000157654:ENST00000302798:exon8:c.T2375C:p.L792S,ENSG00000157654:ENST00000374530:exon8:c.T2375C:p.L792S,ENSG00000241978:ENST00000510514:exon8:c.T2375C:p.L792S,ENSG00000241978:ENST00000555236:exon8:c.T2375C:p.L792S NA NA 9q31.3 NA NA NA NA rs914358 0.43 0.43 0.433 0.455671 0.4493 0.3135 0.3588 0.5877 0.499 0.47 0.3 0.36 0.59 0.4674 0.59 0.71 T 0.034 B 0.021 B 0.117 N 1.000 P 0.55 N 2.26 T -0.936 T 0.000 T 0.209 -0.853 0.542 4.96 1.529 0.734 5.127 -0.853209 NA 0.2 0.462326 0.574898 NA 0.594 NA 7.9543074 857 3 182751846 182751846 C T exonic MCCC1 NA synonymous SNV MCCC1:NM_020166:exon14:c.G1614A:p.S538S exonic ENSG00000078070 NA nonsynonymous SNV ENSG00000078070:ENST00000497959:exon13:c.G1283A:p.R428H Score=522;Name=lod=176 NA 3q27.1 NA NA Name=44 NA rs34749281 0.01 0.01 0.008 0.00638978 0.0169 NA 0.0086 0.003 0.0051 0.02 NA 0.01 NA 0.0118 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071188 2.071188 NA 0.017209 0.007717 NA 0.007 NA 7.954091 857 2 238283605 238283605 G A exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon5:c.C1308T:p.G436G,COL6A3:NM_057164:exon6:c.C1908T:p.G636G,COL6A3:NM_057165:exon7:c.C2511T:p.G837G,COL6A3:NM_057167:exon7:c.C2511T:p.G837G,COL6A3:NM_004369:exon8:c.C3129T:p.G1043G exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon5:c.C1308T:p.G436G,ENSG00000163359:ENST00000392003:exon6:c.C1908T:p.G636G,ENSG00000163359:ENST00000409809:exon6:c.C2511T:p.G837G,ENSG00000163359:ENST00000346358:exon7:c.C2529T:p.G843G,ENSG00000163359:ENST00000347401:exon7:c.C2526T:p.G842G,ENSG00000163359:ENST00000353578:exon7:c.C2511T:p.G837G,ENSG00000163359:ENST00000392004:exon7:c.C2511T:p.G837G,ENSG00000163359:ENST00000295550:exon8:c.C3129T:p.G1043G Score=336;Name=lod=31 NA 2q37.3 Score=1000;Name=V$STAT3_02 NA NA NA rs12622093 0.21 0.21 0.18 0.215855 0.2465 0.2698 0.2536 0.1082 0.2474 0.23 0.27 0.25 0.09 0.2327 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321216 NA NA 0.233488 0.128915 ID=COSM1482931,COSM442555;OCCURENCE=1(breast) 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080926.2;CLNDSDB=.;CLNDSDBID=. 7.9539786 857 6 17799575 17799575 A G exonic KIF13A NA synonymous SNV KIF13A:NM_001105566:exon22:c.T2712C:p.A904A,KIF13A:NM_001105567:exon22:c.T2712C:p.A904A,KIF13A:NM_001105568:exon22:c.T2712C:p.A904A,KIF13A:NM_022113:exon22:c.T2712C:p.A904A exonic ENSG00000137177 NA synonymous SNV ENSG00000137177:ENST00000259711:exon22:c.T2712C:p.A904A,ENSG00000137177:ENST00000378814:exon22:c.T2712C:p.A904A,ENSG00000137177:ENST00000378816:exon22:c.T2712C:p.A904A,ENSG00000137177:ENST00000378826:exon22:c.T2712C:p.A904A,ENSG00000137177:ENST00000378843:exon22:c.T2712C:p.A904A Score=391;Name=lod=52 NA 6p22.3 NA NA NA NA rs3734235 0.18 0.18 0.173 0.207668 0.2396 0.1964 0.1556 0.0998 0.3691 0.25 0.16 0.17 0.1 0.2395 0.25 . . . . . . . . 0.000 P . . . . -0.986 T 0.017 T . 1.337 10.39 -4.84 -0.408 -0.345 2.882 1.336824 1.336824 NA 0.235966 0.12474 NA 0.232 NA 7.9516006 857 5 74017499 74017499 C T exonic GFM2 NA nonsynonymous SNV GFM2:NM_170691:exon20:c.G2180A:p.R727Q,GFM2:NM_032380:exon21:c.G2321A:p.R774Q exonic ENSG00000164347 NA nonsynonymous SNV ENSG00000164347:ENST00000345239:exon20:c.G2180A:p.R727Q,ENSG00000164347:ENST00000296805:exon21:c.G2321A:p.R774Q,ENSG00000164347:ENST00000509430:exon22:c.G2321A:p.R774Q NA NA 5q13.3 NA NA NA NA rs1048167 0.12 0.12 0.126 0.123602 0.1382 0.0218 0.1095 0.2284 0.0818 0.11 0.03 0.13 0.25 0.12 0.25 0.13 T 0.03 B 0.065 B 0.022 N 1.000 P 0 N 0.58 T -1.023 T 0.000 T 0.074 1.525 11.05 -3.33 -0.678 -0.165 13.197 1.525283 1.525283 0.53 0.123953 0.224921 NA 0.174 NA 7.9511804 857 17 39580660 39580660 T C exonic KRT37 NA nonsynonymous SNV KRT37:NM_003770:exon1:c.A116G:p.N39S exonic ENSG00000108417 NA nonsynonymous SNV ENSG00000108417:ENST00000225550:exon1:c.A116G:p.N39S NA NA 17q21.2 NA NA NA NA rs9916724 0.37 0.37 0.339 0.391374 0.4592 0.4067 0.3415 0.1846 0.6207 0.45 0.4 0.4 0.21 0.4381 0.48 0.69 T 0.0 B 0.0 B 0.455 N 1.000 P 0.55 N -1.47 T -0.977 T 0.000 T 0.088 0.22 5.186 2.94 1.127 -0.252 6.415 0.219886 NA 0.38 0.484884 0.223105 NA 0.348 NA 7.9511494 857 7 89912301 89912301 G A exonic C7orf63 NA nonsynonymous SNV C7orf63:NM_001039706:exon13:c.G1468A:p.V490M,C7orf63:NM_001160138:exon13:c.G1414A:p.V472M exonic ENSG00000105792 NA nonsynonymous SNV ENSG00000105792:ENST00000449577:exon2:c.G217A:p.V73M,ENSG00000105792:ENST00000457170:exon9:c.G1117A:p.V373M,ENSG00000105792:ENST00000316089:exon13:c.G1468A:p.V490M,ENSG00000105792:ENST00000389297:exon13:c.G1468A:p.V490M,ENSG00000105792:ENST00000497910:exon13:c.G1414A:p.V472M Score=419;Name=lod=67 NA 7q21.13 NA NA NA NA rs1029365 0.87 0.87 0.86 0.884185 0.7883 0.995 0.8501 0.8812 0.8967 0.79 1 0.84 0.86 0.8295 1 1 T 0.01 B 0.012 B 0.000 N 1.000 P -1.48 N 1.48 T -0.951 T 0.000 T 0.148 -0.585 1.376 4.23 0.351 1.561 7.204 -0.584822 NA 1 0.765595 0.859556 NA 0.862 NA 7.9499384 857 17 74381555 74381555 G A exonic SPHK1 NA nonsynonymous SNV SPHK1:NM_182965:exon2:c.G88A:p.A30T exonic ENSG00000176170 NA nonsynonymous SNV ENSG00000176170:ENST00000323374:exon2:c.G88A:p.A30T NA NA 17q25.1 NA Name=CCNT2,AP-2alpha,TAL1_(SC-12984),GATA-1,HMGN3 Name=6 NA rs2247856 0.28 0.28 0.23 0.253994 0.4473 0.1935 0.3934 0.0378 0.3108 0.46 0.17 0.37 0.04 0.5252 0.46 0.34 T 0.025 B 0.006 B 0.133 N 0.061 P . . 1.8 T -0.905 T 0.000 T 0.064 2.674 14.9 1.8 0.499 0.087 6.481 2.673696 2.673696 0.13 0.411376 0.082162 ID=COSM1324836;OCCURENCE=1(ovary) 0.21 NA 7.9494574 857 2 120409616 120409616 G T exonic PCDP1 NA nonsynonymous SNV PCDP1:NM_001271049:exon23:c.G2385T:p.M795I exonic ENSG00000163075 NA nonsynonymous SNV ENSG00000163075:ENST00000413369:exon23:c.G2385T:p.M795I,ENSG00000163075:ENST00000602047:exon24:c.G1527T:p.M509I NA NA 2q14.2 Score=866;Name=V$IK1_01 NA NA NA rs11686014 0.16 0.16 0.152 0.151558 0.1282 0.126 0.1196 0.2239 0.1268 0.13 0.14 0.14 0.22 0.1314 0.22 0.36 T 0.004 B 0.002 B 0.837 N 1.000 P 0.49 N 1.66 T -0.969 T 0.000 T 0.221 -0.615 1.264 1.95 0.615 0.226 3.753 -0.6149 NA 0.56 0.124419 0.218339 NA 0.167 NA 7.9493144 857 22 42970032 42970032 T C exonic SERHL2 NA nonsynonymous SNV SERHL2:NM_014509:exon12:c.T916C:p.C306R exonic ENSG00000183569 NA nonsynonymous SNV ENSG00000183569:ENST00000407614:exon7:c.T376C:p.C126R,ENSG00000183569:ENST00000335879:exon10:c.T724C:p.C242R,ENSG00000183569:ENST00000327678:exon12:c.T916C:p.C306R NA NA 22q13.2 NA NA NA NA rs137055 0.36 0.36 0.373 0.372404 0.1004 0.7093 0.1801 0.5265 0.2331 0.1 0.67 0.18 0.55 0.1904 0.67 0.5 T 0.0 B 0.0 B 0.890 N 1.000 P -1.28 N 2.86 T -0.948 T 0.000 T 0.137 0.286 5.546 -0.864 -0.094 -1.099 1.160 0.285594 NA 0.44 0.094906 0.456423 ID=COSM149304;OCCURENCE=1(stomach) 0.297 NA 7.9476274 857 12 32134638 32134638 T C exonic KIAA1551 NA nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T749C:p.L250P exonic ENSG00000174718 NA nonsynonymous SNV ENSG00000174718:ENST00000381054:exon3:c.T749C:p.L250P,ENSG00000174718:ENST00000312561:exon4:c.T749C:p.L250P NA NA 12p11.21 NA NA NA NA rs2166807 0.84 0.84 0.846 0.840256 0.7893 0.8244 0.8184 0.9062 0.8354 0.8 0.85 0.81 0.91 0.8123 0.91 . . 0.0 B 0.0 B 0.386 N 1.000 P -1.1 N 4.06 T -1.022 T 0.000 T 0.424 -0.89 0.46 4.69 1.412 0.959 8.221 -0.889689 NA 0.28 0.784419 0.881071 NA 0.79 NA 7.9473144 857 4 6594947 6594947 A C exonic MAN2B2 NA nonsynonymous SNV MAN2B2:NM_015274:exon6:c.A728C:p.Q243P exonic ENSG00000013288 NA nonsynonymous SNV ENSG00000013288:ENST00000285599:exon6:c.A728C:p.Q243P,ENSG00000013288:ENST00000504248:exon6:c.A728C:p.Q243P NA NA 4p16.1 NA NA NA NA rs2301796 0.45 0.45 0.412 0.433906 0.4543 0.6141 0.4841 0.1762 0.5399 0.46 0.62 0.49 0.21 0.4649 0.62 0.31 T 0.0 B 0.0 B 0.198 N 1.000 P -0.66 N 2.2 T -0.969 T 0.000 T 0.373 0.48 6.607 -9.4 -2.218 0.375 3.218 0.480416 NA 0.34 0.466977 0.230595 ID=COSM448019;OCCURENCE=1(breast) 0.435 NA 7.9471564 857 14 23874523 23874523 C T exonic MYH6 NA synonymous SNV MYH6:NM_002471:exon5:c.G411A:p.E137E exonic ENSG00000197616 NA synonymous SNV ENSG00000197616:ENST00000356287:exon4:c.G411A:p.E137E,ENSG00000197616:ENST00000405093:exon5:c.G411A:p.E137E Score=616;Name=lod=424 NA 14q11.2 Score=829;Name=V$NGFIC_01 NA NA NA rs2277474 0.16 0.16 0.154 0.154353 0.2485 0.0675 0.1513 0.1384 0.1708 0.24 0.05 0.2 0.13 0.2103 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019597 NA NA 0.260814 0.165229 NA 0.159 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037497.2;CLNDSDB=.;CLNDSDBID=. 7.9470526 857 3 118867047 118867047 C G exonic C3orf30 NA nonsynonymous SNV C3orf30:NM_152539:exon2:c.C1419G:p.D473E exonic ENSG00000163424 NA nonsynonymous SNV ENSG00000163424:ENST00000295622:exon2:c.C1419G:p.D473E,ENSG00000163424:ENST00000494105:exon2:c.C1419G:p.D473E NA NA 3q13.32 NA NA NA NA rs9289122 0.5 0.5 0.488 0.469649 0.4404 0.5119 0.4856 0.4818 0.4284 0.46 0.53 0.49 0.52 0.472 0.53 1 T 0.0 B 0.0 B 0.429 N 1.000 P -0.895 N 2.77 T -0.925 T 0.000 T 0.004 -1.284 0.041 -2.61 -0.718 -1.870 0.727 -1.283573 NA 1 0.47407 0.476169 NA 0.464 NA 7.9468634 857 13 48547467 48547467 A T exonic SUCLA2 NA nonsynonymous SNV SUCLA2:NM_003850:exon5:c.T595A:p.S199T exonic ENSG00000136143 NA nonsynonymous SNV ENSG00000136143:ENST00000433022:exon2:c.T151A:p.S51T,ENSG00000136143:ENST00000434484:exon4:c.T385A:p.S129T,ENSG00000136143:ENST00000378654:exon5:c.T595A:p.S199T,ENSG00000136143:ENST00000534875:exon5:c.T421A:p.S141T,ENSG00000136143:ENST00000543413:exon6:c.T421A:p.S141T,ENSG00000136143:ENST00000544100:exon6:c.T193A:p.S65T Score=668;Name=lod=693 NA 13q14.2 NA NA NA NA rs7320366 0.72 0.72 0.708 0.683506 0.8181 0.8006 0.6571 0.553 0.6196 0.8 0.75 0.72 0.55 0.7515 0.82 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.355 N -0.03 T -0.928 T 0.000 T 0.221 0.25 5.351 4.56 0.427 4.741 10.528 0.250078 NA 0.37 0.818023 0.593736 NA 0.768 NA 7.9457104 857 22 32334021 32334021 T A exonic C22orf24 NA nonsynonymous SNV C22orf24:NM_015372:exon2:c.A32T:p.H11L exonic ENSG00000128254 NA nonsynonymous SNV ENSG00000128254:ENST00000543051:exon1:c.A233T:p.H78L,ENSG00000128254:ENST00000248984:exon2:c.A32T:p.H11L NA NA 22q12.3 NA NA NA NA rs1984388 0.21 0.21 0.214 0.247604 0.1193 0.1984 0.1902 0.3865 0.2832 0.13 0.17 0.18 0.42 0.1658 0.42 0 D 0.0 B 0.0 B 0.327 N 1.000 P 0 N 1.04 T -0.944 T 0.000 T 0.098 0.487 6.644 1.65 0.008 0.076 2.758 0.48738 NA 1 0.103093 0.354396 ID=COSM149280;OCCURENCE=1(stomach) 0.319 NA 7.9451404 858 6 33179689 33179689 C T exonic RING1 NA synonymous SNV RING1:NM_002931:exon6:c.C1029T:p.D343D exonic ENSG00000204227 NA synonymous SNV ENSG00000204227:ENST00000374656:exon6:c.C1029T:p.D343D Score=566;Name=lod=267 NA 6p21.32 NA Name=Rad21,CTCF,CTCFL_(SC-98982),CTCF_(SC-5916) Name=6 NA rs2854028 0.16 0.16 0.16 0.17492 0.2147 0.1488 0.2219 0.0272 0.3272 0.21 0.19 0.18 0.03 0.2722 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808627 NA NA 0.236787 0.058917 NA 0.087 NA 7.9429796 858 1 214826196 214826196 G A exonic CENPF NA nonsynonymous SNV CENPF:NM_016343:exon16:c.G8186A:p.R2729Q exonic ENSG00000117724 NA nonsynonymous SNV ENSG00000117724:ENST00000366955:exon16:c.G8186A:p.R2729Q NA NA 1q41 NA NA NA NA rs335524 0.56 0.56 0.531 0.561102 0.4443 0.8849 0.5893 0.2874 0.6973 0.47 0.92 0.54 0.3 0.5174 0.92 0.65 T 0.003 B 0.001 B . . 1.000 P -0.695 N 4.11 T -1.022 T 0.000 T 0.02 -1.591 0.014 -6.44 -1.534 -0.136 14.173 -1.590593 NA 0.57 0.429186 0.317749 NA 0.362 NA 7.9424474 858 6 32609097 32609097 T C exonic HLA-DQA1 NA synonymous SNV HLA-DQA1:NM_002122:exon2:c.T93C:p.V31V exonic ENSG00000196735 NA synonymous SNV ENSG00000196735:ENST00000343139:exon2:c.T93C:p.V31V,ENSG00000196735:ENST00000374949:exon2:c.T93C:p.V31V,ENSG00000196735:ENST00000395363:exon2:c.T93C:p.V31V,ENSG00000196735:ENST00000496318:exon2:c.T93C:p.V31V NA NA 6p21.32 Score=853;Name=V$MYCMAX_01 Name=Pol2-4H8 NA NA rs1129738 0.21 0.21 0.225 0.193091 0.2396 0.1339 0.2522 0.2171 0.1319 0.21 0.15 0.27 0.21 0.239 0.27 . . . . . . . . 0.998 P . . . . -0.989 T 0.019 T . -0.23 2.891 -0.455 -0.119 -0.091 1.161 -0.229734 NA NA 0.246157 0.208579 NA 0.217 NA 7.9419096 858 11 114568942 114568942 T C exonic NXPE2 NA nonsynonymous SNV NXPE2:NM_182495:exon3:c.T308C:p.V103A exonic ENSG00000204361 NA nonsynonymous SNV ENSG00000204361:ENST00000375475:exon3:c.T308C:p.V103A,ENSG00000204361:ENST00000389586:exon3:c.T308C:p.V103A NA NA 11q23.3 NA NA NA NA rs11215158 0.1 0.1 0.117 0.0926518 0.1441 0.0942 0.0951 0.0227 0.1309 0.14 0.1 0.1 0.03 0.1122 0.14 0.31 T 0.387 B 0.393 B 0.717 N 1.000 P 1.955 M 2.72 T -0.993 T 0.001 T 0.087 1.993 12.62 0.501 -0.200 0.672 9.028 1.99341 1.99341 0.07 0.135135 0.039017 NA 0.051 NA 7.9418984 858 1 202888947 202888947 T C exonic KLHL12 NA synonymous SNV KLHL12:NM_021633:exon3:c.A285G:p.T95T exonic ENSG00000117153 NA synonymous SNV ENSG00000117153:ENST00000367258:exon3:c.A399G:p.T133T,ENSG00000117153:ENST00000367261:exon3:c.A285G:p.T95T,ENSG00000117153:ENST00000435533:exon3:c.A399G:p.T133T NA NA 1q32.1 Score=990;Name=V$AREB6_04 Name=FOXA1_(C-20) Name=2 NA rs3182429 0.29 0.29 0.283 0.291733 0.2326 0.5208 0.3271 0.0681 0.3937 0.23 0.54 0.3 0.09 0.2662 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116287 NA NA 0.226744 0.115297 NA 0.254 NA 7.9411226 858 9 73461337 73461337 T A exonic TRPM3 NA synonymous SNV TRPM3:NM_001007470:exon4:c.A174T:p.A58A,TRPM3:NM_001007471:exon4:c.A633T:p.A211A,TRPM3:NM_020952:exon4:c.A174T:p.A58A,TRPM3:NM_024971:exon4:c.A174T:p.A58A,TRPM3:NM_206944:exon4:c.A174T:p.A58A,TRPM3:NM_206945:exon4:c.A174T:p.A58A,TRPM3:NM_206946:exon4:c.A174T:p.A58A,TRPM3:NM_206947:exon4:c.A174T:p.A58A,TRPM3:NM_206948:exon4:c.A174T:p.A58A exonic ENSG00000083067 NA synonymous SNV ENSG00000083067:ENST00000358082:exon2:c.A174T:p.A58A,ENSG00000083067:ENST00000377097:exon2:c.A174T:p.A58A,ENSG00000083067:ENST00000396280:exon2:c.A174T:p.A58A,ENSG00000083067:ENST00000396285:exon2:c.A174T:p.A58A,ENSG00000083067:ENST00000396292:exon2:c.A174T:p.A58A,ENSG00000083067:ENST00000408909:exon2:c.A174T:p.A58A,ENSG00000083067:ENST00000357533:exon4:c.A639T:p.A213A,ENSG00000083067:ENST00000360823:exon4:c.A174T:p.A58A,ENSG00000083067:ENST00000361823:exon4:c.A174T:p.A58A,ENSG00000083067:ENST00000377101:exon4:c.A174T:p.A58A,ENSG00000083067:ENST00000377105:exon4:c.A174T:p.A58A,ENSG00000083067:ENST00000377106:exon4:c.A174T:p.A58A,ENSG00000083067:ENST00000377110:exon4:c.A633T:p.A211A,ENSG00000083067:ENST00000377111:exon4:c.A633T:p.A211A,ENSG00000083067:ENST00000396283:exon4:c.A174T:p.A58A,ENSG00000083067:ENST00000423814:exon4:c.A639T:p.A213A Score=680;Name=lod=772 NA 9q21.12 Score=890;Name=V$TGIF_01 NA NA NA rs7862440 0.49 0.49 0.439 0.520567 0.5835 0.2728 0.5591 0.5885 0.592 0.58 0.24 0.59 0.57 0.5531 0.59 . . . . . . . . 0.000 P . . . . -0.938 T 0.000 T . 1.424 10.7 2.61 0.020 0.268 2.883 1.423613 1.423613 NA 0.589419 0.56128 NA 0.565 NA 7.9406476 858 8 145603114 145603114 A C exonic ADCK5 NA nonsynonymous SNV ADCK5:NM_174922:exon2:c.A51C:p.R17S exonic ENSG00000173137 NA nonsynonymous SNV ENSG00000173137:ENST00000308860:exon2:c.A51C:p.R17S,ENSG00000173137:ENST00000526833:exon2:c.A51C:p.R17S,ENSG00000173137:ENST00000529654:exon2:c.A51C:p.R17S,ENSG00000173137:ENST00000532190:exon2:c.A51C:p.R17S,ENSG00000173137:ENST00000533715:exon3:c.A149C:p.E50A NA NA 8q24.3 NA NA NA NA rs6599528 0.58 0.58 0.558 0.632388 0.4314 0.6577 0.5648 0.8101 0.6207 0.42 0.65 0.56 0.79 0.5255 0.79 0.84 T 0.0 B 0.001 B 0.858 N 1.000 P -1.445 N 0.92 T -0.944 T 0.000 T 0.108 -1.086 0.157 3.68 0.389 2.275 5.77 -1.08576 NA 0.48 0.436628 0.747048 ID=COSM150567;OCCURENCE=1(breast),1(stomach),1(large_intestine) 0.326 NA 7.9398054 858 11 123777497 123777497 G A exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G359A:p.C120Y exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.G359A:p.C120Y Score=441;Name=lod=83 NA 11q24.1 NA NA NA NA rs10750250 0.78 0.78 0.837 0.807708 0.8032 0.7688 0.8718 0.8986 0.684 0.73 0.73 0.83 0.89 0.8015 0.89 1 T 0.0 B 0.0 B 0.014 N 1.000 P -3.11 N 8.13 T -1.013 T 0.000 T 0.045 -2.065 0.006 4.66 0.441 1.148 9.841 -2.06496 NA 1 0.790649 0.875341 NA 0.514 NA 7.9379844 858 11 56409603 56409603 C T exonic OR5AP2 NA nonsynonymous SNV OR5AP2:NM_001002925:exon1:c.G313A:p.A105T exonic ENSG00000172464 NA nonsynonymous SNV ENSG00000172464:ENST00000302981:exon1:c.G313A:p.A105T,ENSG00000172464:ENST00000544374:exon1:c.G316A:p.A106T NA NA 11q12.1 NA NA NA NA rs11606499 0.12 0.12 0.126 0.117812 0.1392 NA 0.1037 0.2587 0.0368 0.14 NA 0.09 0.26 0.1181 0.27 0.74 T 0.004 B 0.003 B 0.029 N 1.000 P 0.375 N 4.99 T -0.958 T 0.000 T 0.074 -0.324 2.461 3.18 0.700 -0.013 9.464 -0.324119 NA 0.5 0.139548 0.267833 NA 0.138 NA 7.9364854 858 12 11214212 11214212 A T exonic TAS2R46 NA nonsynonymous SNV TAS2R46:NM_176887:exon1:c.T682A:p.L228M exonic ENSG00000226761 NA nonsynonymous SNV ENSG00000226761:ENST00000533467:exon1:c.T682A:p.L228M NA NA 12p13.2 NA NA NA NA rs2708380 0.34 0.34 0.361 0.335863 0.4841 0.1925 0.4625 0.3404 0.2352 0.44 0.21 0.37 0.32 0.4256 0.49 0.23 T 0.883 P 0.521 P . . 1.000 P 1.53 L 5.29 T -1.005 T 0.000 T 0.073 1.253 10.08 -3.08 -0.745 -0.066 4.127 1.25266 1.25266 0.19 0.488253 0.366546 NA 0.399 NA 7.9353804 858 2 107423395 107423395 T G exonic ST6GAL2 NA synonymous SNV ST6GAL2:NM_001142351:exon6:c.A1329C:p.I443I,ST6GAL2:NM_032528:exon6:c.A1329C:p.I443I exonic ENSG00000144057 NA synonymous SNV ENSG00000144057:ENST00000361686:exon6:c.A1329C:p.I443I,ENSG00000144057:ENST00000409382:exon6:c.A1329C:p.I443I Score=491;Name=lod=132 NA 2q12.2 NA NA NA NA rs1470590 0.43 0.43 0.431 0.409145 0.6113 0.1726 0.4654 0.4546 0.3436 0.61 0.16 0.48 0.42 0.5316 0.61 . . . . . . . . 0.000 P . . . . -0.933 T 0.000 T . 1.31 10.29 2.8 0.062 1.535 4.434 1.310325 1.310325 NA 0.588605 0.479573 NA 0.457 NA 7.9351616 859 12 56822378 56822378 T A exonic TIMELESS NA nonsynonymous SNV TIMELESS:NM_003920:exon12:c.A1363T:p.I455L exonic ENSG00000111602 NA nonsynonymous SNV ENSG00000111602:ENST00000229201:exon12:c.A1360T:p.I454L,ENSG00000111602:ENST00000553532:exon12:c.A1363T:p.I455L Score=599;Name=lod=361 NA 12q13.3 NA NA NA NA rs774027 0.49 0.49 0.421 0.506589 0.4513 0.746 0.683 0.2534 0.5337 0.45 0.7 0.61 0.23 0.4941 0.7 0.3 T 0.0 B 0.002 B 0.199 N 0.000 P 0 N 3.35 T -1.060 T 0.000 T 0.066 -0.165 3.196 -2.3 -0.517 0.322 2.383 -0.164811 NA 0.38 0.454302 0.269632 NA 0.507 NA 7.9336314 859 8 145729727 145729727 C A exonic GPT NA nonsynonymous SNV GPT:NM_005309:exon1:c.C40A:p.H14N exonic ENSG00000167701 NA nonsynonymous SNV ENSG00000167701:ENST00000394955:exon1:c.C40A:p.H14N,ENSG00000167701:ENST00000528431:exon2:c.C40A:p.H14N NA NA 8q24.3 NA NA NA NA rs1063739 0.42 0.42 0.373 0.432708 0.4602 0.5377 0.5086 0.1861 0.5757 0.46 0.48 0.54 0.18 0.4747 0.54 0.86 T 0.0 B 0.0 B 0.001 N 1.000 P -0.345 N -0.72 T -0.938 T 0.000 T 0.053 -1.686 0.012 3.88 0.782 0.391 5.533 -1.685669 NA 0.24 0.465341 0.231608 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=GLUTAMIC_PYRUVATE_TRANSAMINASE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000017468.1;CLNDSDB=.;CLNDSDBID=. 7.9330924 859 3 194061907 194061907 G A exonic CPN2 NA stopgain CPN2:NM_001080513:exon2:c.C1525T:p.Q509X exonic ENSG00000178772 NA stopgain ENSG00000178772:ENST00000323830:exon2:c.C1525T:p.Q509X,ENSG00000178772:ENST00000429275:exon2:c.C1525T:p.Q509X NA NA 3q29 NA NA NA NA rs4974539 0.26 0.26 0.295 0.280152 0.3509 0.38 0.2378 0.23 0.2025 0.3 0.28 0.21 0.22 0.3331 0.38 0.55 T . . . . . . 0.000 P . . . . . . . . . 1.947 12.47 -4.38 -0.644 0.263 13.673 1.946724 1.946724 0.06 0.38314 0.269178 NA NA NA 7.93286 859 3 16640075 16640075 T C exonic DAZL NA nonsynonymous SNV DAZL:NM_001190811:exon2:c.A94G:p.T32A,DAZL:NM_001351:exon2:c.A34G:p.T12A exonic ENSG00000092345 NA nonsynonymous SNV ENSG00000092345:ENST00000250863:exon2:c.A94G:p.T32A,ENSG00000092345:ENST00000399444:exon2:c.A34G:p.T12A,ENSG00000092345:ENST00000454457:exon3:c.A148G:p.T50A NA NA 3p24.3 NA NA NA NA rs11710967 0.09 0.09 0.076 0.0680911 0.1551 0.0486 0.1052 0.0091 0.0521 0.15 0.06 0.11 0.01 0.1084 0.15 0.26 T 0.028 B 0.024 B 0.069 N 1.000 P 1.25 L 1.96 T -1.061 T 0.000 T 0.098 1.91 12.34 -2.98 -0.413 -0.127 6.803 1.910116 1.910116 0.1 0.137009 0.025933 NA 0.123 NA 7.9328244 859 7 55249063 55249063 G A exonic EGFR NA synonymous SNV EGFR:NM_005228:exon20:c.G2361A:p.Q787Q exonic ENSG00000146648 NA synonymous SNV ENSG00000146648:ENST00000455089:exon19:c.G2226A:p.Q742Q,ENSG00000146648:ENST00000275493:exon20:c.G2361A:p.Q787Q,ENSG00000146648:ENST00000454757:exon20:c.G2202A:p.Q734Q Score=452;Name=lod=92 NA 7p11.2 NA Name=CTCF,c-Myc Name=11 NA rs1050171 0.42 0.42 0.407 0.432708 0.6074 0.1825 0.5519 0.4175 0.4468 0.61 0.13 0.51 0.4 0.5228 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.367041 3.367041 0 0.603837 0.422606 ID=COSM1451600;OCCURENCE=1(large_intestine) 0.457 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038427.1;CLNDSDB=.;CLNDSDBID=. 7.9326296 859 5 74069863 74069863 A G exonic NSA2 NA synonymous SNV NSA2:NM_014886:exon5:c.A693G:p.T231T exonic ENSG00000164346 NA synonymous SNV ENSG00000164346:ENST00000296802:exon5:c.A693G:p.T231T Score=609;Name=lod=397 NA 5q13.3 Score=856;Name=V$CREB_Q2 Name=BCL3 NA NA rs6874609 0.36 0.36 0.364 0.380791 0.2416 0.2063 0.3357 0.7481 0.2393 0.22 0.19 0.37 0.77 0.2716 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286672 NA NA 0.222326 0.672038 NA 0.471 NA 7.9311406 859 11 61539020 61539020 C G exonic MYRF NA synonymous SNV MYRF:NM_001127392:exon6:c.C789G:p.P263P,MYRF:NM_013279:exon6:c.C762G:p.P254P exonic ENSG00000124920 NA synonymous SNV ENSG00000124920:ENST00000265460:exon6:c.C762G:p.P254P,ENSG00000124920:ENST00000278836:exon6:c.C789G:p.P263P Score=593;Name=lod=342 NA 11q12.2 Score=834;Name=V$SREBP1_02 Name=CTCF NA NA rs149803 0.12 0.12 0.11 0.091254 0.2793 0.002 0.1657 0.0189 0.0348 0.25 0.0017 0.18 0.03 0.1849 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193048 NA NA 0.271807 0.056767 NA 0.152 NA 7.9306596 859 7 44099664 44099664 T C exonic DBNL NA synonymous SNV DBNL:NM_001014436:exon12:c.T1065C:p.A355A,DBNL:NM_001122956:exon12:c.T1092C:p.A364A,DBNL:NM_014063:exon12:c.T1068C:p.A356A exonic ENSG00000136279 NA synonymous SNV ENSG00000136279:ENST00000440166:exon10:c.T756C:p.A252A,ENSG00000136279:ENST00000490734:exon10:c.T783C:p.A261A,ENSG00000136279:ENST00000452943:exon11:c.T993C:p.A331A,ENSG00000136279:ENST00000456905:exon11:c.T921C:p.A307A,ENSG00000136279:ENST00000448521:exon12:c.T1065C:p.A355A,ENSG00000136279:ENST00000468694:exon12:c.T1092C:p.A364A,ENSG00000136279:ENST00000494774:exon12:c.T1068C:p.A356A NA NA 7p13 NA NA NA NA rs11552797 0.26 0.26 0.228 0.266973 0.2406 0.1141 0.2882 0.4387 0.2045 0.25 0.12 0.29 0.39 0.2638 0.42 . . . . . . . . 1.000 P . . . . -1.105 T 0.000 T . 1.573 11.21 -7.58 -1.961 -0.487 18.070 1.572572 1.572572 NA 0.231628 0.419655 ID=COSM150276;OCCURENCE=1(stomach) 0.239 NA 7.9306386 859 11 113268059 113268059 G A exonic ANKK1 NA nonsynonymous SNV ANKK1:NM_178510:exon6:c.G952A:p.G318R exonic ENSG00000170209 NA nonsynonymous SNV ENSG00000170209:ENST00000303941:exon6:c.G952A:p.G318R NA NA 11q23.2 Score=781;Name=V$TAXCREB_01 NA NA NA rs11604671 0.26 0.26 0.241 0.226238 0.501 0.0625 0.3026 0.0393 0.3108 0.49 0.06 0.36 0.06 0.3992 0.5 0.57 T 0.0 B 0.0 B 0.084 N 1.000 P 0 N -0.79 T -0.994 T 0.000 T 0.026 1.852 12.15 0.519 -0.309 -1.959 2.527 1.85156 1.85156 0.63 0.502827 0.120206 NA 0.159 NA 7.9303064 859 14 45644589 45644589 G T exonic FANCM NA nonsynonymous SNV FANCM:NM_020937:exon14:c.G2632T:p.V878L exonic ENSG00000187790 NA nonsynonymous SNV ENSG00000187790:ENST00000556250:exon7:c.G1180T:p.V394L,ENSG00000187790:ENST00000542564:exon13:c.G2554T:p.V852L,ENSG00000187790:ENST00000267430:exon14:c.G2632T:p.V878L NA NA 14q21.2 NA NA NA NA rs1367580 0.21 0.21 0.218 0.232228 0.1282 0.128 0.1729 0.4478 0.1973 0.14 0.13 0.16 0.46 0.1568 0.46 1 T 0.0 B 0.0 B 0.815 N 1.000 P -1.7 N 2.94 T -0.903 T 0.000 T 0.021 -2.589 0 4.08 0.383 0.856 6.780 -2.58927 NA 1 0.118937 0.332726 NA 0.232 NA 7.9293964 859 10 105810400 105810400 T C exonic COL17A1 NA nonsynonymous SNV COL17A1:NM_000494:exon27:c.A2107G:p.M703V exonic ENSG00000065618 NA nonsynonymous SNV ENSG00000065618:ENST00000353479:exon27:c.A2107G:p.M703V,ENSG00000065618:ENST00000369733:exon27:c.A2107G:p.M703V NA NA 10q25.1 Score=845;Name=V$GRE_C NA NA NA rs805722 0.72 0.72 0.675 0.69369 0.8052 0.7659 0.7954 0.4728 0.7311 0.8 0.79 0.81 0.47 0.7803 0.82 0.3 T 0.0 B 0.001 B 0.071 N 0.091 P 0.08 N -3.22 D -0.959 T 0.000 T 0.18 -1.681 0.012 -4.21 -0.640 -0.222 7.481 -1.68079 NA 0.35 0.818488 0.524966 ID=COSM1178415;OCCURENCE=1(prostate) 0.717 NA 7.9293454 859 19 51728477 51728477 C T exonic CD33 NA nonsynonymous SNV CD33:NM_001177608:exon2:c.C41T:p.A14V,CD33:NM_001772:exon2:c.C41T:p.A14V exonic ENSG00000105383 NA nonsynonymous SNV ENSG00000105383:ENST00000262262:exon2:c.C41T:p.A14V,ENSG00000105383:ENST00000391796:exon2:c.C41T:p.A14V NA NA 19q13.41 NA Name=TBP,Pol2 NA NA rs12459419 0.24 0.24 0.189 0.210663 0.3101 0.1855 0.4841 0.0514 0.1554 0.31 0.18 0.42 0.07 0.2939 0.42 0.12 T 0.766 P 0.283 B . . 1.000 P 0.975 L 2.45 T -0.889 T 0.000 T 0.032 1.889 12.28 0.919 0.184 0.120 9.354 1.889446 1.889446 0.11 0.300581 0.093282 NA 0.167 NA 7.9287524 859 14 20925154 20925154 T G exonic APEX1 NA nonsynonymous SNV APEX1:NM_001244249:exon5:c.T444G:p.D148E,APEX1:NM_001641:exon5:c.T444G:p.D148E,APEX1:NM_080648:exon5:c.T444G:p.D148E,APEX1:NM_080649:exon5:c.T444G:p.D148E exonic ENSG00000100823 NA nonsynonymous SNV ENSG00000100823:ENST00000216714:exon5:c.T444G:p.D148E,ENSG00000100823:ENST00000398030:exon5:c.T444G:p.D148E,ENSG00000100823:ENST00000553681:exon5:c.T444G:p.D148E,ENSG00000100823:ENST00000555414:exon5:c.T444G:p.D148E,ENSG00000100823:ENST00000556054:exon5:c.T444G:p.D148E,ENSG00000100823:ENST00000557150:exon5:c.T393G:p.D131E,ENSG00000100823:ENST00000557592:exon5:c.T393G:p.D131E Score=572;Name=lod=281 NA 14q11.2 NA NA NA NA rs1130409 0.44 0.44 0.405 0.375599 0.508 0.4058 0.4352 0.3215 0.2393 0.52 0.41 0.44 0.36 0.428 0.52 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.02 N -1.31 T -1.027 T 0.000 T 0.131 -1.58 0.014 -2.6 -0.729 0.107 6.442 -1.579649 NA 1 0.471395 0.365638 NA 0.37 NA 7.9259384 859 15 66629403 66629403 C A exonic TIPIN NA nonsynonymous SNV TIPIN:NM_017858:exon8:c.G799T:p.A267S exonic ENSG00000075131 NA nonsynonymous SNV ENSG00000075131:ENST00000367709:exon7:c.G496T:p.A166S,ENSG00000075131:ENST00000261881:exon8:c.G799T:p.A267S,ENSG00000075131:ENST00000562124:exon8:c.G799T:p.A267S NA NA 15q22.31 NA NA NA NA rs3759786 0.09 0.09 0.091 0.0702875 0.1252 0.0645 0.1153 0.0091 0.0706 0.14 0.07 0.13 0.01 0.1276 0.16 0.49 T 0.099 B 0.027 B 0.153 N 1.000 P 1.65 L 2.52 T -1.000 T 0.000 T 0.182 1.258 10.1 2.61 0.437 0.374 7.286 1.258058 1.258058 0.42 0.155501 0.030227 NA 0.159 NA 7.9250324 860 21 15918577 15918577 G C exonic SAMSN1 NA synonymous SNV SAMSN1:NM_022136:exon1:c.C6G:p.L2L exonic ENSG00000155307 NA synonymous SNV ENSG00000155307:ENST00000400564:exon1:c.C6G:p.L2L,ENSG00000155307:ENST00000400566:exon1:c.C6G:p.L2L Score=554;Name=lod=238 NA 21q11.2 NA Name=Pol2(b),EBF,c-Jun,Sin3Ak-20,GATA-2,Pol2-4H8,c-Fos,NFKB,HEY1,eGFP-GATA2,p300_(N-15),TBP,GATA2_(CG2-96),TAF1,GATA-1,POU2F2,Pol2,BCLAF1_(M33-P5B11),TAF7_(SQ-8),IRF4_(M-17),eGFP-JunD,GATA3_(SC-268),ELF1_(SC-631),Oct-2,p300,EBF1_(C-8),GTF2F1_(RAP-74) Name=43 NA rs7281104 0.26 0.26 0.276 0.303514 0.2475 0.2946 0.1931 0.3722 0.3558 0.23 0.29 0.19 0.35 0.2586 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177648 NA NA 0.23606 0.362787 NA 0.254 NA 7.9245066 860 6 25726621 25726621 C T exonic HIST1H2AA NA synonymous SNV HIST1H2AA:NM_170745:exon1:c.G135A:p.G45G exonic ENSG00000164508 NA synonymous SNV ENSG00000164508:ENST00000297012:exon1:c.G135A:p.G45G Score=289;Name=lod=20 NA 6p22.2 Score=708;Name=V$HOX13_01 Name=Pol2-4H8,CHD2_(N-1250) NA NA rs9467583 0.21 0.21 0.211 0.224441 0.2505 0.1062 0.196 0.3222 0.2076 0.24 0.09 0.2 0.31 0.2307 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433352 NA NA 0.261628 0.305493 ID=COSM1685422;OCCURENCE=1(skin) 0.29 NA 7.9238386 860 2 242610773 242610773 T A exonic ATG4B NA nonsynonymous SNV ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q exonic ENSG00000168397 NA nonsynonymous SNV ENSG00000168397:ENST00000428861:exon5:c.T572A:p.L191Q,ENSG00000168397:ENST00000402096:exon12:c.T839A:p.L280Q,ENSG00000168397:ENST00000404914:exon12:c.T1061A:p.L354Q,ENSG00000168397:ENST00000405546:exon12:c.T1061A:p.L354Q,ENSG00000168397:ENST00000396411:exon13:c.T839A:p.L280Q,ENSG00000168397:ENST00000474739:exon13:c.T1019A:p.L340Q Score=561;Name=lod=255 NA 2q37.3 NA NA NA NA rs7601000 0.86 0.86 0.857 0.879393 0.8082 0.8651 0.8674 0.9584 0.8691 0.8 0.85 0.85 0.97 0.8153 0.97 0.64 T 0.001 B 0.0 B 0.000 N 0.936 P -1.15 N 1.06 T -1.002 T 0.000 T 0.313 0.3 5.627 2.7 0.289 1.370 5.721 0.300353 NA 0.59 0.786812 0.928904 ID=COSM442644;OCCURENCE=1(breast) 0.761 NA 7.9230214 860 1 21894735 21894735 T C exonic ALPL NA nonsynonymous SNV ALPL:NM_001177520:exon5:c.T556C:p.Y186H,ALPL:NM_001127501:exon6:c.T622C:p.Y208H,ALPL:NM_000478:exon7:c.T787C:p.Y263H exonic ENSG00000162551 NA nonsynonymous SNV ENSG00000162551:ENST00000539907:exon5:c.T556C:p.Y186H,ENSG00000162551:ENST00000425315:exon6:c.T787C:p.Y263H,ENSG00000162551:ENST00000540617:exon6:c.T622C:p.Y208H,ENSG00000162551:ENST00000374832:exon7:c.T787C:p.Y263H,ENSG00000162551:ENST00000374840:exon7:c.T787C:p.Y263H NA NA 1p36.12 NA NA NA NA rs3200254 0.28 0.28 0.279 0.266973 0.1203 0.4534 0.268 0.2655 0.227 0.13 0.49 0.26 0.28 0.1791 0.49 0.6 T 0.0 B 0.004 B 0.120 N 0.999 P 0.175 N -3.95 D -0.974 T 0.000 T 0.08 -1.522 0.016 1.91 0.462 -0.042 0.770 -1.521911 NA 1 0.111163 0.251702 NA 0.181 NA 7.9227704 860 1 160793560 160793560 A G exonic LY9 NA nonsynonymous SNV LY9:NM_001261457:exon7:c.A1534G:p.M512V,LY9:NM_001261456:exon8:c.A1762G:p.M588V,LY9:NM_002348:exon8:c.A1804G:p.M602V exonic ENSG00000122224 NA nonsynonymous SNV ENSG00000122224:ENST00000368035:exon5:c.A718G:p.M240V,ENSG00000122224:ENST00000368041:exon7:c.A1414G:p.M472V,ENSG00000122224:ENST00000263285:exon8:c.A1804G:p.M602V,ENSG00000122224:ENST00000341032:exon8:c.A1402G:p.M468V,ENSG00000122224:ENST00000368037:exon8:c.A1669G:p.M557V,ENSG00000122224:ENST00000368040:exon8:c.A718G:p.M240V NA NA 1q23.3 NA Name=Pol2 NA NA rs509749 0.63 0.63 0.628 0.660144 0.4503 0.7034 0.6686 0.7912 0.6483 0.45 0.71 0.64 0.79 0.5388 0.79 1 T 0.0 B 0.0 B 0.030 N 1.000 P -0.625 N 2.69 T -1.011 T 0.009 T 0.013 -2.601 0 2.28 0.061 -0.210 8.371 -2.60085 NA 0.86 0.421512 0.735588 NA 0.688 NA 7.9227214 860 4 7436486 7436486 C A exonic PSAPL1 NA nonsynonymous SNV PSAPL1:NM_001085382:exon1:c.G121T:p.A41S exonic ENSG00000178597 NA nonsynonymous SNV ENSG00000178597:ENST00000319098:exon1:c.G121T:p.A41S NA NA 4p16.1 Score=961;Name=V$MYOD_Q6 NA NA NA rs11548325 0.18 0.18 0.153 0.20008 0.1252 0.2946 0.2795 0.1543 0.1851 0.13 0.26 0.24 0.13 0.1776 0.26 0.74 T 0.44 B 0.14 B . . 1.000 P 0.895 L 0.55 T -1.037 T 0.000 T 0.078 -2.189 0.005 1.63 0.487 0.676 4.684 -2.189265 NA 1 0.108951 0.143465 NA 0.239 NA 7.9215824 860 7 42262668 42262668 G T intronic GLI3 NA NA NA intronic ENSG00000106571 NA NA NA Score=278;Name=lod=18 NA 7p14.1 Score=847;Name=V$OCT1_Q6 Name=TCF12,NANOG_(SC-33759),TAF1,Pol2 Name=6 NA rs2286291 0.05 0.05 0.043 0.0421326 0.0785 0.0387 0.0519 0.003 0.0542 0.08 0.04 0.06 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.644262 2.644262 0 NA NA NA 0.007 NA 7.9215 860 10 115370274 115370274 T C exonic NRAP NA nonsynonymous SNV NRAP:NM_006175:exon30:c.A3442G:p.I1148V,NRAP:NM_001261463:exon31:c.A3547G:p.I1183V,NRAP:NM_198060:exon31:c.A3547G:p.I1183V exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000360478:exon30:c.A3442G:p.I1148V,ENSG00000197893:ENST00000369360:exon30:c.A3466G:p.I1156V,ENSG00000197893:ENST00000359988:exon31:c.A3547G:p.I1183V,ENSG00000197893:ENST00000369358:exon31:c.A3571G:p.I1191V Score=391;Name=lod=52 NA 10q25.3 Score=829;Name=V$GR_Q6 NA NA NA rs10749138 0.45 0.45 0.43 0.462859 0.4652 0.5992 0.4669 0.3321 0.4939 0.44 0.57 0.48 0.3 0.4627 0.57 1 T 0.0 B 0.001 B 0.012 N 0.000 P 0.44 N 2.66 T -0.924 T 0.000 T 0.043 0.715 7.807 0.626 -0.123 0.173 9.731 0.714817 NA 1 0.48407 0.33409 ID=COSM1180648;OCCURENCE=1(upper_aerodigestive_tract) 0.377 NA 7.9213634 860 14 95080803 95080803 G A exonic SERPINA3 NA nonsynonymous SNV SERPINA3:NM_001085:exon2:c.G25A:p.A9T exonic ENSG00000196136 NA nonsynonymous SNV ENSG00000196136:ENST00000393078:exon2:c.G25A:p.A9T,ENSG00000196136:ENST00000393080:exon2:c.G25A:p.A9T,ENSG00000196136:ENST00000467132:exon2:c.G25A:p.A9T,ENSG00000196136:ENST00000555820:exon2:c.G89A:p.G30D,ENSG00000196136:ENST00000556968:exon2:c.G25A:p.A9T,ENSG00000196136:ENST00000553947:exon5:c.G100A:p.A34T NA NA 14q32.13 NA NA NA NA rs4934 0.44 0.44 0.434 0.399361 0.4871 0.62 0.2781 0.2133 0.4192 0.49 0.65 0.3 0.2 0.448 0.65 0.37 T 0.297 B 0.135 B 0.442 N 1.000 P 0.55 N -2.26 D -0.971 T 0.000 T 0.284 2.444 14.13 -0.687 -0.020 -0.060 0.758 2.44351 2.44351 0.07 0.476977 0.256241 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=ANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000019667.1;CLNDSDB=.;CLNDSDBID=. 7.9212564 860 3 66444615 66444615 G A exonic LRIG1 NA synonymous SNV LRIG1:NM_015541:exon12:c.C1317T:p.S439S exonic ENSG00000144749 NA synonymous SNV ENSG00000144749:ENST00000273261:exon12:c.C1317T:p.S439S,ENSG00000144749:ENST00000383703:exon13:c.C1389T:p.S463S Score=577;Name=lod=296 NA 3p14.1 NA Name=EBF1_(C-8),TCF12,NFKB,PAX5-N19,Pol2,Pol2-4H8,TAF1 Name=10 NA rs6793110 0.26 0.26 0.247 0.28155 0.2445 0.0575 0.3617 0.5076 0.1881 0.25 0.05 0.33 0.48 0.2686 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24397 1.24397 NA 0.232442 0.453473 ID=COSM149417;OCCURENCE=1(breast),1(stomach) 0.312 NA 7.9211246 860 10 123970530 123970530 T C exonic TACC2 NA nonsynonymous SNV TACC2:NM_006997:exon3:c.T824C:p.V275A,TACC2:NM_206860:exon3:c.T824C:p.V275A,TACC2:NM_206861:exon6:c.T1028C:p.V343A,TACC2:NM_206862:exon9:c.T6590C:p.V2197A exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000505639:exon1:c.T113C:p.V38A,ENSG00000138162:ENST00000260733:exon3:c.T824C:p.V275A,ENSG00000138162:ENST00000360561:exon3:c.T824C:p.V275A,ENSG00000138162:ENST00000368999:exon3:c.T824C:p.V275A,ENSG00000138162:ENST00000369004:exon3:c.T824C:p.V275A,ENSG00000138162:ENST00000514539:exon3:c.T875C:p.V292A,ENSG00000138162:ENST00000358010:exon5:c.T1028C:p.V343A,ENSG00000138162:ENST00000513429:exon6:c.T1028C:p.V343A,ENSG00000138162:ENST00000453444:exon7:c.T6602C:p.V2201A,ENSG00000138162:ENST00000334433:exon8:c.T6590C:p.V2197A,ENSG00000138162:ENST00000515273:exon8:c.T6602C:p.V2201A,ENSG00000138162:ENST00000515603:exon8:c.T6455C:p.V2152A,ENSG00000138162:ENST00000369005:exon9:c.T6590C:p.V2197A NA NA 10q26.13 NA NA NA NA rs2295873 0.32 0.32 0.327 0.35024 0.0875 0.3532 0.281 0.7065 0.1851 0.09 0.37 0.24 0.67 0.2029 0.67 0.83 T 0.0 B 0.001 B 0.055 N 1.000 P -0.915 N 4.17 T -0.988 T 0.000 T 0.198 -1.256 0.049 2.55 0.684 0.572 10.331 -1.256442 NA 0.53 0.122819 0.621763 NA 0.362 NA 7.9201144 860 2 86693826 86693826 T C exonic KDM3A NA nonsynonymous SNV KDM3A:NM_001146688:exon10:c.T1339C:p.S447P,KDM3A:NM_018433:exon10:c.T1339C:p.S447P exonic ENSG00000115548 NA nonsynonymous SNV ENSG00000115548:ENST00000542128:exon8:c.T1183C:p.S395P,ENSG00000115548:ENST00000312912:exon10:c.T1339C:p.S447P,ENSG00000115548:ENST00000409064:exon10:c.T1339C:p.S447P,ENSG00000115548:ENST00000441719:exon10:c.T1339C:p.S447P,ENSG00000115548:ENST00000409556:exon11:c.T1339C:p.S447P NA NA 2p11.2 NA NA NA NA rs34605051 0.09 0.09 0.089 0.0728834 0.1392 NA 0.0677 0.118 0.0225 0.14 NA 0.07 0.13 0.1139 0.16 0.08 T 0.001 B 0.0 B 0.001 N 1.000 P 0.805 L 0.2 T -1.104 T 0.001 T 0.158 0.975 8.98 1.78 0.060 1.598 5.551 0.975208 NA 0.01 0.161977 0.127553 NA 0.145 NA 7.9182564 860 19 38229824 38229824 T C exonic ZNF573 NA nonsynonymous SNV ZNF573:NM_001172692:exon4:c.A1303G:p.M435V,ZNF573:NM_001172690:exon5:c.A1567G:p.M523V,ZNF573:NM_001172691:exon5:c.A1561G:p.M521V,ZNF573:NM_001172689:exon6:c.A1303G:p.M435V,ZNF573:NM_152360:exon8:c.A1393G:p.M465V exonic ENSG00000189144 NA nonsynonymous SNV ENSG00000189144:ENST00000392138:exon3:c.A1306G:p.M436V,ENSG00000189144:ENST00000357309:exon4:c.A1303G:p.M435V,ENSG00000189144:ENST00000590414:exon4:c.A1567G:p.M523V,ENSG00000189144:ENST00000536220:exon6:c.A1303G:p.M435V,ENSG00000189144:ENST00000339503:exon8:c.A1393G:p.M465V Score=352;Name=lod=36 NA 19q13.12 NA NA NA NA rs3095726 0.74 0.74 0.751 0.725839 0.833 0.3472 0.7579 0.9917 0.6237 0.84 0.35 0.78 0.99 0.766 0.99 0.02 D 0.0 B 0.0 B . . 0.000 P -1.395 N 2.29 T -1.024 T 0.000 T 0.022 0.593 7.201 -0.193 -0.269 1.410 5.635 0.593398 NA 0.12 0.816395 0.964821 ID=COSM1393266;OCCURENCE=1(large_intestine) 0.862 NA 7.9179384 860 2 25141538 25141538 A G exonic ADCY3 NA nonsynonymous SNV ADCY3:NM_004036:exon1:c.T319C:p.S107P exonic ENSG00000138031 NA nonsynonymous SNV ENSG00000138031:ENST00000260600:exon1:c.T319C:p.S107P,ENSG00000138031:ENST00000435135:exon2:c.T319C:p.S107P,ENSG00000138031:ENST00000438445:exon2:c.T319C:p.S107P NA NA 2p23.3 NA NA NA NA rs11676272 0.54 0.54 0.56 0.566893 0.4642 0.4286 0.3876 0.913 0.4744 0.45 0.42 0.43 0.9 0.4798 0.9 0.29 T 0.0 B 0.0 B 0.066 N 1.000 P -0.41 N 0.93 T -0.994 T 0.000 T 0.483 -2.164 0.005 2.94 0.099 1.285 4.925 -2.164073 NA 0.3 0.471977 0.839991 NA 0.558 NA 7.9173564 860 1 157514097 157514097 A G exonic FCRL5 NA nonsynonymous SNV FCRL5:NM_001195388:exon5:c.T799C:p.Y267H,FCRL5:NM_031281:exon5:c.T799C:p.Y267H exonic ENSG00000143297 NA nonsynonymous SNV ENSG00000143297:ENST00000368191:exon4:c.T544C:p.Y182H,ENSG00000143297:ENST00000356953:exon5:c.T799C:p.Y267H,ENSG00000143297:ENST00000361835:exon5:c.T799C:p.Y267H,ENSG00000143297:ENST00000368189:exon5:c.T799C:p.Y267H,ENSG00000143297:ENST00000368190:exon5:c.T799C:p.Y267H NA NA 1q23.1 NA NA NA NA rs6679793 0.74 0.74 0.727 0.707268 0.8221 0.9067 0.7334 0.4115 0.7648 0.84 0.9 0.71 0.43 0.7814 0.9 0.4 T 0.001 B 0.004 B 0.012 N 1.000 P -1.1 N 2.82 T -0.949 T 0.003 T 0.014 -0.11 3.462 -5.95 -0.960 -2.279 3.426 -0.10974 NA 0.66 0.812791 0.474126 NA 0.659 NA 7.9170424 861 16 20370816 20370816 C T exonic PDILT NA nonsynonymous SNV PDILT:NM_174924:exon12:c.G1580A:p.R527K exonic ENSG00000169340 NA nonsynonymous SNV ENSG00000169340:ENST00000302451:exon12:c.G1580A:p.R527K NA NA 16p12.3 NA NA NA NA rs9652589 0.36 0.36 0.348 0.35643 0.4732 0.1538 0.3473 0.4153 0.3722 0.48 0.15 0.35 0.4 0.4438 0.5 1 T 0.0 B 0.0 B 0.518 N 1.000 P -0.805 N 4.11 T -0.959 T 0.000 T 0.024 -1.199 0.073 2.63 0.269 1.003 5.706 -1.198838 NA 1 0.501512 0.423059 NA 0.377 NA 7.9148214 861 1 6313938 6313938 C T exonic GPR153 NA nonsynonymous SNV GPR153:NM_207370:exon3:c.G626A:p.R209H exonic ENSG00000158292 NA nonsynonymous SNV ENSG00000158292:ENST00000377893:exon3:c.G626A:p.R209H Score=325;Name=lod=28 NA 1p36.31 NA NA NA NA rs12735670 0.69 0.69 NA 0.699081 0.7117 0.6131 0.7939 0.702 0.7035 0.72 0.59 0.77 0.69 0.7075 0.77 0.44 T 0.012 B 0.011 B 0.002 N 0.411 P 0.345 N 0.97 T -1.009 T 0.000 T 0.146 0.246 5.326 2.03 0.147 0.366 7.468 0.245509 NA 0.31 NA NA NA 0.587 NA 7.9141334 861 1 144906508 144906508 C T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon14:c.G2838A:p.M946I,PDE4DIP:NM_001002812:exon18:c.G2349A:p.M783I,PDE4DIP:NM_001198834:exon18:c.G2349A:p.M783I,PDE4DIP:NM_014644:exon18:c.G2349A:p.M783I,PDE4DIP:NM_001198832:exon21:c.G2547A:p.M849I exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon14:c.G2838A:p.M946I,ENSG00000178104:ENST00000479408:exon14:c.G1710A:p.M570I,ENSG00000178104:ENST00000529945:exon14:c.G2838A:p.M946I,ENSG00000178104:ENST00000369349:exon18:c.G2349A:p.M783I,ENSG00000178104:ENST00000369351:exon18:c.G2349A:p.M783I,ENSG00000178104:ENST00000369354:exon18:c.G2349A:p.M783I,ENSG00000178104:ENST00000369356:exon18:c.G2349A:p.M783I,ENSG00000178104:ENST00000313382:exon21:c.G2547A:p.M849I,ENSG00000178104:ENST00000369359:exon21:c.G2760A:p.M920I,ENSG00000178104:ENST00000530740:exon21:c.G2760A:p.M920I Score=487;Name=lod=127 NA 1q21.1 NA NA NA NA rs34169189 0.09 0.09 0.055 0.0932508 0.1342 0.0268 0.1974 0.0227 0.1411 0.13 0.02 0.19 0.02 0.1434 0.19 0.92 T 0.028 B 0.009 B . . 0.000 P 0.205 N 4.94 T -0.915 T 0.004 T 0.179 1.407 10.64 1.96 0.929 -0.084 3.615 1.407063 1.407063 0.37 0.147449 0.040626 NA 0.145 NA 7.9082844 861 12 49579696 49579696 C G exonic TUBA1A NA synonymous SNV TUBA1A:NM_001270399:exon4:c.G453C:p.S151S,TUBA1A:NM_001270400:exon4:c.G348C:p.S116S,TUBA1A:NM_006009:exon4:c.G453C:p.S151S exonic ENSG00000167552 NA nonsynonymous SNV ENSG00000167552:ENST00000546918:exon3:c.G605C:p.R202P Score=658;Name=lod=628 NA 12q13.12 Score=784;Name=V$PAX5_01 NA NA NA rs697624 0.51 0.51 0.54 0.547724 0.3429 0.6885 0.3588 0.6717 0.5798 0.34 0.71 0.37 0.63 0.4203 0.71 0.1 T . . . . . . 0.000 P . . 0.02 T -0.950 T 0.000 T . 0.29 5.57 0.167 -0.094 0.270 6.791 0.289991 NA NA 0.328834 0.642306 NA 0.514 NA 7.907966 861 1 151820324 151820324 T C exonic THEM5 NA nonsynonymous SNV THEM5:NM_182578:exon5:c.A590G:p.D197G exonic ENSG00000196407 NA nonsynonymous SNV ENSG00000196407:ENST00000368817:exon5:c.A590G:p.D197G Score=295;Name=lod=21 NA 1q21.3 NA NA NA NA rs6587625 0.8 0.8 0.749 0.777955 0.833 0.6815 0.8674 0.8752 0.6258 0.83 0.66 0.85 0.87 0.7861 0.87 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.27 N 2.71 T -0.965 T 0.009 T 0.531 -1.507 0.017 4.17 1.160 0.635 7.141 -1.506755 NA 0.88 0.808605 0.858375 NA 0.754 NA 7.9056284 862 4 2194946 2194946 C T exonic POLN NA nonsynonymous SNV POLN:NM_181808:exon5:c.G1006A:p.G336S exonic ENSG00000130997 NA nonsynonymous SNV ENSG00000130997:ENST00000382865:exon5:c.G1006A:p.G336S,ENSG00000130997:ENST00000511885:exon7:c.G1006A:p.G336S NA NA 4p16.3 Score=816;Name=V$CMYB_01 NA NA NA rs10011549 0.32 0.32 0.31 0.330671 0.1243 0.372 0.2464 0.6029 0.1922 0.13 0.37 0.25 0.61 0.1906 0.61 0.53 T 0.014 B 0.009 B 0.560 N 1.000 P 0.92 L 3.54 T -0.974 T 0.000 T 0.181 -0.15 3.265 0.379 0.249 -0.334 3.146 -0.150292 NA 0.42 0.115349 0.535195 NA 0.384 NA 7.9030844 862 19 10131999 10131999 T C exonic RDH8 NA nonsynonymous SNV RDH8:NM_015725:exon5:c.T665C:p.M222T exonic ENSG00000080511 NA nonsynonymous SNV ENSG00000080511:ENST00000587782:exon2:c.T50C:p.M17T,ENSG00000080511:ENST00000171214:exon5:c.T605C:p.M202T,ENSG00000080511:ENST00000591589:exon5:c.T665C:p.M222T NA NA 19p13.2 NA NA NA NA rs1644731 0.53 0.53 0.524 0.589657 0.4563 0.5635 0.5648 0.649 0.6912 0.44 0.59 0.5 0.63 0.5202 0.63 0.58 T 0.0 B 0.0 B 0.365 N 1.000 P -1.59 N -3.1 D -0.942 T 0.000 T 0.023 -0.363 2.288 -2.05 -0.396 -0.457 3.249 -0.363067 NA 0.24 0.454302 0.616205 NA 0.514 NA 7.9025314 862 19 35434448 35434448 A G exonic ZNF30 NA nonsynonymous SNV ZNF30:NM_001099437:exon5:c.A581G:p.K194R,ZNF30:NM_001099438:exon5:c.A581G:p.K194R,ZNF30:NM_194325:exon5:c.A578G:p.K193R exonic ENSG00000168661 NA nonsynonymous SNV ENSG00000168661:ENST00000303586:exon5:c.A581G:p.K194R,ENSG00000168661:ENST00000439785:exon5:c.A581G:p.K194R,ENSG00000168661:ENST00000601142:exon5:c.A578G:p.K193R,ENSG00000168661:ENST00000426813:exon6:c.A335G:p.K112R NA NA 19q13.11 NA NA NA NA rs62122088 0.09 0.09 0.095 0.0852636 0.1551 0.0635 0.0403 0.0628 0.0982 0.16 0.05 0.05 0.06 0.1271 0.16 0.69 T 0.013 B 0.009 B . . 1.000 P -0.215 N 2.57 T -0.931 T 0.000 T 0.178 -1.464 0.019 -0.026 -0.220 -2.896 2.711 -1.464275 NA 0.72 0.150036 0.075772 NA 0.087 NA 7.9010974 862 19 52468203 52468203 T A exonic ZNF350 NA nonsynonymous SNV ZNF350:NM_021632:exon5:c.A1503T:p.R501S exonic ENSG00000256683 NA nonsynonymous SNV ENSG00000256683:ENST00000243644:exon5:c.A1503T:p.R501S NA NA 19q13.41 NA NA NA NA rs2278415 0.16 0.16 0.165 0.175719 0.1471 0.2331 0.1297 0.1029 0.2771 0.16 0.2 0.11 0.12 0.1587 0.2 0.02 D 0.064 B 0.032 B . . 1.000 P 0.695 N 3.47 T -0.953 T 0.000 T 0.105 2.544 14.47 1.96 0.234 -0.260 7.252 2.543957 2.543957 0 0.127442 0.143214 NA 0.116 NA 7.9000914 862 7 142498813 142498813 G A intergenic PRSS3P2,EPHB6 dist=16414;dist=53979 NA NA exonic ENSG00000211772 NA unknown UNKNOWN Score=472;Name=lod=110 NA 7q34 Score=784;Name=V$MIF1_01 Name=E2F6_(H-50),USF-1,THAP1_(SC-98174) Name=7 NA rs1042955 NA NA 0.204 NA NA NA NA NA NA NA NA NA NA 0.2671 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.579659 1.579659 NA NA NA NA 0.297 NA 7.8995667 862 7 150500729 150500729 A G exonic TMEM176A NA nonsynonymous SNV TMEM176A:NM_018487:exon5:c.A364G:p.T122A exonic ENSG00000002933 NA nonsynonymous SNV ENSG00000002933:ENST00000461345:exon4:c.A187G:p.T63A,ENSG00000002933:ENST00000468689:exon4:c.A187G:p.T63A,ENSG00000002933:ENST00000475536:exon4:c.A220G:p.T74A,ENSG00000002933:ENST00000004103:exon5:c.A364G:p.T122A,ENSG00000002933:ENST00000484928:exon5:c.A364G:p.T122A NA NA 7q36.1 NA NA NA NA rs741064 0.89 0.89 0.89 0.90016 0.8002 0.9365 0.879 0.9856 0.865 0.8 0.94 0.87 0.98 0.8397 0.98 0.53 T 0.0 B 0.0 B 0.508 N 1.000 P -0.145 N 4.38 T -1.083 T 0.000 T 0.083 -0.238 2.854 -3.79 -1.335 -1.289 3.659 -0.237626 NA 0 0.794186 0.958466 ID=COSM1163465;OCCURENCE=1(pancreas) 0.768 NA 7.8992474 862 3 52833805 52833805 C A exonic ITIH3 NA nonsynonymous SNV ITIH3:NM_002217:exon9:c.C943A:p.Q315K exonic ENSG00000162267 NA nonsynonymous SNV ENSG00000162267:ENST00000416872:exon9:c.C943A:p.Q315K,ENSG00000162267:ENST00000449956:exon9:c.C943A:p.Q315K NA NA 3p21.1 NA NA NA NA rs3617 0.57 0.57 0.585 0.54373 0.4841 0.4137 0.6095 0.7663 0.3916 0.49 0.47 0.62 0.74 0.4848 0.74 0.55 T 0.0 B 0.0 B 0.001 N 1.000 P -1.02 N -1.65 D -0.918 T 0.000 T 0.063 -0.565 1.453 4.15 0.453 0.355 11.865 -0.564539 NA 0.47 0.465555 0.710137 ID=COSM1617892,COSM1617893;OCCURENCE=1(liver) 0.529 NA 7.8988784 862 18 21481233 21481233 C G exonic LAMA3 NA synonymous SNV LAMA3:NM_001127718:exon10:c.C1152G:p.A384A,LAMA3:NM_000227:exon11:c.C1320G:p.A440A,LAMA3:NM_001127717:exon47:c.C5979G:p.A1993A,LAMA3:NM_198129:exon48:c.C6147G:p.A2049A exonic ENSG00000053747 NA synonymous SNV ENSG00000053747:ENST00000587184:exon10:c.C1152G:p.A384A,ENSG00000053747:ENST00000269217:exon11:c.C1320G:p.A440A,ENSG00000053747:ENST00000399516:exon47:c.C5979G:p.A1993A,ENSG00000053747:ENST00000313654:exon48:c.C6147G:p.A2049A Score=336;Name=lod=31 NA 18q11.2 NA Name=GATA-2,ERalpha_a Name=46 NA rs1154226 0.18 0.18 0.163 0.168331 0.2624 0.1885 0.1902 0.0151 0.2423 0.27 0.17 0.2 0.03 0.2343 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000159 NA NA 0.271163 0.057649 ID=COSM1179776,COSM1179775;OCCURENCE=1(prostate) 0.174 NA 7.8988036 862 16 27474910 27474910 A G exonic GTF3C1 NA nonsynonymous SNV GTF3C1:NM_001520:exon35:c.T5876C:p.F1959S exonic ENSG00000077235 NA nonsynonymous SNV ENSG00000077235:ENST00000356183:exon35:c.T5876C:p.F1959S,ENSG00000077235:ENST00000561623:exon35:c.T5801C:p.F1934S NA NA 16p12.1 NA NA NA NA rs12919017 0.09 0.09 0.077 0.0686901 0.161 0.001 0.1844 0.0098 0.0409 0.17 NA 0.16 0.01 0.1215 0.17 0.46 T 0.0 B 0.002 B 0.001 N 1.000 P 1.1 L 2.06 T -1.017 T 0.000 T 0.243 1.523 11.04 -2.26 -0.496 0.195 5.735 1.522915 1.522915 0.04 0.152442 0.039827 NA 0.036 NA 7.8983914 862 16 30536672 30536672 A G exonic ZNF768 NA synonymous SNV ZNF768:NM_024671:exon2:c.T789C:p.C263C exonic ENSG00000169957 NA synonymous SNV ENSG00000169957:ENST00000380412:exon2:c.T789C:p.C263C,ENSG00000169957:ENST00000562803:exon2:c.T696C:p.C232C Score=497;Name=lod=139 NA 16p11.2 Score=896;Name=V$TAL1ALPHAE47_01 Name=Pol2 Name=5 NA rs3751847 0.53 0.53 0.564 0.631589 0.5924 0.1468 0.4424 0.9644 0.8558 0.57 0.11 0.5 0.96 0.5768 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133477 NA NA 0.60093 0.887574 NA 0.659 NA 7.8965366 862 14 65747759 65747759 A G intergenic MAX,MIR4708 dist=178497;dist=54077 NA NA ncRNA_exonic ENSG00000259078 NA NA NA Score=567;Name=lod=269 Name=Conduct disorder (symptom count) 14q23.3 NA Name=CTCFL_(SC-98982) Name=2 NA rs1256531 0.25 0.25 0.247 0.294728 0.1044 0.1875 0.1744 0.5968 0.2781 0.11 0.19 0.15 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704341 NA NA NA NA NA 0.261 NA 7.8956 862 19 55713535 55713535 G A exonic PTPRH NA nonsynonymous SNV PTPRH:NM_001161440:exon4:c.C508T:p.H170Y,PTPRH:NM_002842:exon6:c.C1042T:p.H348Y exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000263434:exon4:c.C508T:p.H170Y,ENSG00000080031:ENST00000376350:exon6:c.C1042T:p.H348Y NA NA 19q13.42 NA NA NA NA rs2288515 0.55 0.55 0.518 0.571286 0.4871 0.4236 0.5879 0.7874 0.5061 0.5 0.42 0.56 0.78 0.4944 0.78 0.9 T 0.027 B 0.01 B . . 1.000 P 0 N 0.4 T -0.939 T 0.000 T 0.09 2.865 15.54 -2.67 -0.475 -2.591 0.962 2.865307 2.865307 0.07 0.456395 0.723332 NA 0.507 NA 7.8954384 862 22 45749983 45749983 G T exonic SMC1B NA nonsynonymous SNV SMC1B:NM_148674:exon21:c.C3148A:p.L1050M exonic ENSG00000077935 NA nonsynonymous SNV ENSG00000077935:ENST00000357450:exon21:c.C3148A:p.L1050M,ENSG00000077935:ENST00000404354:exon21:c.C3148A:p.L1050M Score=536;Name=lod=202 NA 22q13.31 NA NA NA NA rs5764698 0.35 0.35 0.305 0.288139 0.492 0.2946 0.4654 0.0477 0.271 0.5 0.33 0.43 0.06 0.4289 0.52 0.11 T 0.0 B 0.003 B 0.392 N 1.000 P 0.345 N -1.04 T -0.959 T 0.000 T 0.025 1.67 11.54 2.38 0.107 0.418 2.741 1.670439 1.670439 0.22 0.517351 0.114432 NA 0.196 NA 7.8950824 863 3 169492101 169492101 C T exonic MYNN NA synonymous SNV MYNN:NM_001185119:exon1:c.C18T:p.H6H,MYNN:NM_018657:exon2:c.C18T:p.H6H,MYNN:NM_001185118:exon3:c.C18T:p.H6H exonic ENSG00000085274 NA synonymous SNV ENSG00000085274:ENST00000544106:exon1:c.C18T:p.H6H,ENSG00000085274:ENST00000349841:exon2:c.C18T:p.H6H,ENSG00000085274:ENST00000392733:exon2:c.C18T:p.H6H,ENSG00000085274:ENST00000602751:exon2:c.C18T:p.H6H,ENSG00000085274:ENST00000356716:exon3:c.C18T:p.H6H Score=619;Name=lod=438 Name=Colorectal cancer,Celiac disease,Telomere length,Multiple sclerosis 3q26.2 NA NA Name=8 NA rs10936599 0.3 0.3 0.276 0.270567 0.2425 0.5784 0.3545 0.0371 0.2382 0.25 0.58 0.29 0.07 0.2818 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258938 1.258938 NA 0.247442 0.069224 NA 0.159 NA 7.8949246 863 5 70806649 70806649 T A exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon17:c.T3730A:p.F1244I exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon17:c.T3730A:p.F1244I NA NA 5q13.2 NA NA NA NA rs1961760 0.42 0.42 0.429 0.439896 0.492 0.379 0.3444 0.4107 0.5562 0.5 0.39 0.35 0.4 0.4632 0.5 0.23 T 0.0 B 0.0 B 0.060 N 1.000 P -1.61 N 2.84 T -0.918 T 0.000 T 0.019 -0.866 0.512 -4.49 -1.348 -0.869 3.264 -0.86593 NA 0.63 0.483448 0.386823 ID=COSM1132128;OCCURENCE=1(prostate) 0.406 NA 7.8946854 863 19 41386033 41386033 T C exonic CYP2A7 NA nonsynonymous SNV CYP2A7:NM_030589:exon3:c.A457G:p.M153V,CYP2A7:NM_000764:exon4:c.A610G:p.M204V exonic ENSG00000198077 NA nonsynonymous SNV ENSG00000198077:ENST00000291764:exon3:c.A457G:p.M153V,ENSG00000198077:ENST00000301146:exon4:c.A610G:p.M204V NA NA 19q13.2 NA NA NA NA rs73032311 0.14 0.14 0.127 0.113618 0.1441 0.1796 0.0807 0.0802 0.0828 0.15 0.19 0.09 0.1 0.136 0.19 0.16 T 0.105 B 0.039 B 0.001 U 1.000 P 1.11 L -0.32 T -1.111 T 0.000 T 0.232 0.288 5.558 0.761 0.000 1.082 4.863 0.287753 NA 0.03 0.158953 0.092601 NA 0.072 NA 7.8942804 863 3 16364954 16364954 C T exonic RFTN1 NA nonsynonymous SNV RFTN1:NM_015150:exon9:c.G1261A:p.V421I exonic ENSG00000131378 NA nonsynonymous SNV ENSG00000131378:ENST00000607320:exon2:c.G106A:p.V36I,ENSG00000131378:ENST00000432519:exon8:c.G1153A:p.V385I,ENSG00000131378:ENST00000334133:exon9:c.G1261A:p.V421I NA NA 3p25.1 NA NA NA NA rs11554130 0.19 0.19 0.22 0.198083 0.1551 0.0258 0.1124 0.5204 0.045 0.15 0.02 0.12 0.5 0.1418 0.5 0.08 T 0.082 B 0.067 B 0.006 N 0.507 P 1.935 M 1.47 T -0.951 T 0.000 T 0.009 2.155 13.16 0.123 0.264 0.214 3.686 2.154612 2.154612 0.06 0.143023 0.447345 NA 0.268 NA 7.8934104 863 19 36303664 36303664 G C exonic PRODH2 NA nonsynonymous SNV PRODH2:NM_021232:exon2:c.C272G:p.P91R exonic ENSG00000250799 NA nonsynonymous SNV ENSG00000250799:ENST00000301175:exon2:c.C272G:p.P91R NA NA 19q13.12 NA Name=Pol2,HEY1,TBP,Sin3Ak-20 NA NA rs3848666 0.08 0.08 0.067 0.0543131 0.1561 NA 0.0965 0.0061 0.0409 0.15 NA 0.12 0.01 0.1185 0.17 0.21 T 0.004 B 0.002 B . . 1.000 P 0.205 N 1.89 T -0.996 T 0.000 T 0.038 0.415 6.252 0.647 0.103 0.765 6.956 0.414685 NA 0.14 0.165698 0.033364 NA 0.138 NA 7.8930354 863 3 153840389 153840389 T C exonic ARHGEF26 NA nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.T608C:p.F203S,ARHGEF26:NM_001251963:exon2:c.T608C:p.F203S,ARHGEF26:NM_015595:exon2:c.T608C:p.F203S exonic ENSG00000114790 NA nonsynonymous SNV ENSG00000114790:ENST00000356448:exon2:c.T608C:p.F203S,ENSG00000114790:ENST00000465093:exon2:c.T608C:p.F203S,ENSG00000114790:ENST00000465817:exon2:c.T608C:p.F203S,ENSG00000114790:ENST00000496710:exon2:c.T608C:p.F203S NA NA 3q25.2 NA NA NA NA rs13096373 0.33 0.33 0.32 0.324281 0.1103 0.4514 0.3415 0.469 0.2055 0.11 0.48 0.33 0.51 0.2109 0.51 1 T 0.0 B 0.0 B 0.015 N 1.000 P -0.805 N 2.67 T -0.919 T 0.000 T 0.062 -1.751 0.01 3.91 0.867 0.431 5.579 -1.750579 NA 1 0.120859 0.389532 NA 0.283 NA 7.8912744 863 19 2226772 2226772 G C exonic DOT1L NA nonsynonymous SNV DOT1L:NM_032482:exon27:c.G4252C:p.V1418L exonic ENSG00000104885 NA nonsynonymous SNV ENSG00000104885:ENST00000457590:exon4:c.G892C:p.V298L,ENSG00000104885:ENST00000398665:exon27:c.G4252C:p.V1418L NA NA 19p13.3 NA NA NA NA rs2302061 0.25 0.25 0.167 0.255791 0.1441 0.25 0.1715 0.4289 0.2025 0.16 0.28 0.17 0.41 0.1885 0.41 0 D 0.0 B 0.0 B 0.019 N 1.000 P -1.04 N 2.07 T -0.908 T 0.000 T 0.018 -1.06 0.183 0.147 -0.033 0.735 3.255 -1.060185 NA 1 0.109942 0.356562 NA 0.21 NA 7.8907914 863 1 248224294 248224294 C T exonic OR2L3 NA nonsynonymous SNV OR2L3:NM_001004687:exon1:c.C311T:p.S104L exonic ENSG00000198128 NA nonsynonymous SNV ENSG00000198128:ENST00000359959:exon1:c.C311T:p.S104L NA NA 1q44 NA NA NA NA rs6658256 0.26 0.26 0.282 0.310503 0.1481 0.254 0.1326 0.7398 0.0818 0.12 0.27 0.12 0.59 0.1828 0.6 1 T 0.0 B 0.0 B 0.023 N 1.000 P -1.715 N 5.0 T -1.059 T 0.000 T 0.037 -2.116 0.006 -2.42 -0.429 -0.918 5.010 -2.11565 NA 1 0.112791 0.600091 NA 0.29 NA 7.8896424 863 7 76131645 76131645 A G exonic DTX2 NA nonsynonymous SNV DTX2:NM_001102596:exon5:c.A1120G:p.T374A,DTX2:NM_001102595:exon7:c.A1261G:p.T421A,DTX2:NM_001102594:exon8:c.A1261G:p.T421A,DTX2:NM_020892:exon9:c.A1261G:p.T421A exonic ENSG00000091073 NA nonsynonymous SNV ENSG00000091073:ENST00000446820:exon5:c.A1120G:p.T374A,ENSG00000091073:ENST00000413936:exon7:c.A1261G:p.T421A,ENSG00000091073:ENST00000446600:exon7:c.A988G:p.T330A,ENSG00000091073:ENST00000307569:exon8:c.A1120G:p.T374A,ENSG00000091073:ENST00000430490:exon8:c.A1261G:p.T421A,ENSG00000091073:ENST00000324432:exon9:c.A1261G:p.T421A NA NA 7q11.23 NA NA NA NA rs6979487 0.74 0.74 NA 0.816094 0.6938 0.9454 0.8357 0.8268 0.7802 0.61 0.88 0.75 0.74 0.7506 0.88 1 T 0.0 B 0.002 B 0.369 N 1.000 P 0.255 N -2.09 D -0.924 T 0.000 T 0.18 -1.469 0.018 -2.89 -0.454 0.127 1.623 -1.469051 NA 0.9 NA NA NA 0.246 NA 7.8889334 863 18 52258548 52258548 T C exonic DYNAP NA nonsynonymous SNV DYNAP:NM_173629:exon1:c.T113C:p.V38A exonic ENSG00000178690 NA nonsynonymous SNV ENSG00000178690:ENST00000321600:exon1:c.T113C:p.V38A,ENSG00000178690:ENST00000585973:exon2:c.T122C:p.V41A NA NA 18q21.2 NA NA NA NA rs35428499 0.11 0.11 0.116 0.116613 0.1551 0.0288 0.0865 0.1483 0.1462 0.16 0.03 0.12 0.14 0.1405 0.16 0.02 D 0.093 B 0.077 B 0.728 N 1.000 P -0.14 N 2.02 T -0.965 T 0.000 T 0.198 -0.017 3.925 -1.32 -0.133 -0.159 9.270 -0.017299 NA 0.02 0.151163 0.154108 NA 0.116 NA 7.8865704 863 14 77845121 77845121 A G exonic SAMD15 NA nonsynonymous SNV SAMD15:NM_001010860:exon1:c.A1360G:p.K454E exonic ENSG00000100583 NA nonsynonymous SNV ENSG00000100583:ENST00000216471:exon1:c.A1360G:p.K454E NA NA 14q24.3 NA NA NA NA rs2193595 0.48 0.48 0.504 0.512979 0.497 0.0883 0.4841 0.888 0.4806 0.49 0.08 0.54 0.89 0.4823 0.89 1 T 0.0 B 0.0 B . . 1.000 P -0.2 N 1.37 T -0.979 T 0.000 T 0.006 -1.455 0.019 -2.42 -0.675 -0.968 3.790 -1.454591 NA 0.72 0.467791 0.822969 ID=COSM147821;OCCURENCE=1(stomach) 0.616 NA 7.8862424 863 1 160000435 160000435 A T exonic PIGM NA nonsynonymous SNV PIGM:NM_145167:exon1:c.T1095A:p.F365L exonic ENSG00000143315 NA nonsynonymous SNV ENSG00000143315:ENST00000368090:exon1:c.T1095A:p.F365L NA NA 1q23.2 NA NA NA NA rs12409352 0.08 0.08 0.071 0.0680911 0.1292 0.0357 0.1182 0.0091 0.0828 0.13 0.05 0.12 0.02 0.1405 0.18 . . 0.107 B 0.078 B 0.000 D 0.125 P 0.755 N 1.12 T -1.027 T 0.027 T 0.209 1.609 11.34 -0.827 -0.155 -0.710 10.541 1.609087 1.609087 0.21 0.177674 0.035179 NA 0.196 NA 7.8859594 863 19 21300462 21300462 A G exonic ZNF714 NA nonsynonymous SNV ZNF714:NM_182515:exon5:c.A992G:p.K331R exonic ENSG00000160352 NA nonsynonymous SNV ENSG00000160352:ENST00000596143:exon5:c.A992G:p.K331R,ENSG00000160352:ENST00000600435:exon5:c.A992G:p.K331R Score=466;Name=lod=104 NA 19p12 NA NA NA NA rs2884554 0.7 0.7 0.648 0.669529 0.8191 0.8611 0.8084 0.2035 0.8497 0.8 0.88 0.79 0.24 0.7877 0.88 0.17 T 0.999 D 0.969 D . . 1.000 P 0.075 N . . -0.967 T 0.000 T 0.164 1.68 11.58 0.955 0.378 0.131 4.700 1.680248 1.680248 0.23 0.841281 0.351533 NA 0.688 NA 7.8852524 864 16 81242102 81242102 G A exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon4:c.C754T:p.R252W exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon4:c.C754T:p.R252W,ENSG00000269323:ENST00000599697:exon4:c.C754T:p.R252W NA NA 16q23.2 NA NA NA NA rs6420424 0.59 0.59 0.57 0.565495 0.4632 0.881 0.5086 0.4629 0.5245 0.49 0.86 0.5 0.48 0.5172 0.86 0.1 T 0.015 B 0.003 B 0.090 N 1.000 P . . 4.94 T -1.009 T 0.000 T 0.386 -0.21 2.983 2.0 0.223 1.700 2.971 -0.209849 NA 0 0.468513 0.443437 NA 0.457 NA 7.8844204 864 11 100226883 100226883 T A exonic CNTN5 NA nonsynonymous SNV CNTN5:NM_175566:exon22:c.T3013A:p.S1005T,CNTN5:NM_001243270:exon24:c.T3235A:p.S1079T,CNTN5:NM_014361:exon25:c.T3235A:p.S1079T exonic ENSG00000149972 NA nonsynonymous SNV ENSG00000149972:ENST00000418526:exon22:c.T3013A:p.S1005T,ENSG00000149972:ENST00000279463:exon23:c.T3235A:p.S1079T,ENSG00000149972:ENST00000528682:exon24:c.T3235A:p.S1079T,ENSG00000149972:ENST00000524871:exon25:c.T3235A:p.S1079T NA NA 11q22.1 NA NA Name=6 NA rs1216183 0.29 0.29 0.292 0.327077 0.1193 0.3313 0.2896 0.531 0.2873 0.12 0.34 0.26 0.52 0.224 0.52 . . 0.0 B 0.0 B 0.127 N 1.000 P 0 N 0.58 T -0.917 T 0.000 T 0.102 -1.184 0.081 1.5 -0.254 -0.013 0.953 -1.183514 NA 0.75 0.106311 0.428285 NA 0.297 NA 7.8837224 864 5 160097496 160097496 A G exonic ATP10B NA nonsynonymous SNV ATP10B:NM_025153:exon7:c.T649C:p.C217R exonic ENSG00000118322 NA nonsynonymous SNV ENSG00000118322:ENST00000327245:exon7:c.T649C:p.C217R Score=545;Name=lod=219 NA 5q34 NA NA NA NA rs958912 0.84 0.84 0.856 0.861621 0.8082 0.8938 0.7118 0.9304 0.8967 0.81 0.9 0.72 0.91 0.8212 0.92 . . 0.0 B 0.0 B 0.019 N 0.998 P -2.1 N -0.79 T -0.977 T 0.000 T 0.016 -0.251 2.794 2.34 0.023 1.538 6.222 -0.250728 NA 0.62 0.821059 0.921563 NA 0.891 NA 7.8828744 864 12 52435632 52435632 A C UTR5 NR4A1 NM_001202233:c.-45A>C NA NA exonic ENSG00000123358 NA synonymous SNV ENSG00000123358:ENST00000545748:exon2:c.A79C:p.R27R Score=389;Name=lod=51 NA 12q13.13 NA Name=CTCF,NRSF Name=88 NA rs138157115 0.02 0.02 0.011 0.0139776 0.0348 NA 0.036 0.0038 0.0051 0.04 NA 0.04 0.002 0.0504 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279005 NA NA 0.034474 0.010286 NA 0.007 NA 7.880326 864 12 11286088 11286088 A C exonic TAS2R30 NA nonsynonymous SNV TAS2R30:NM_001097643:exon1:c.T756G:p.F252L exonic ENSG00000256188 NA nonsynonymous SNV ENSG00000256188:ENST00000539585:exon1:c.T756G:p.F252L NA NA 12p13.2 NA NA NA NA rs2599404 0.4 0.4 0.361 0.351238 0.5109 0.1944 0.4697 0.357 0.2566 0.53 0.22 0.44 0.37 0.4391 0.53 0.7 T . . . . . . 1.000 P . . 1.28 T -0.904 T 0.000 T 0.018 -2.76 0 -3.51 -0.589 -1.060 0.353 -2.760374 NA NA 0.503838 0.377384 NA 0.406 NA 7.8794954 864 11 118430519 118430519 C T exonic IFT46 NA nonsynonymous SNV IFT46:NM_001168618:exon3:c.G26A:p.C9Y,IFT46:NM_020153:exon3:c.G26A:p.C9Y exonic ENSG00000118096 NA nonsynonymous SNV ENSG00000118096:ENST00000531939:exon1:c.G26A:p.C9Y,ENSG00000118096:ENST00000264020:exon3:c.G26A:p.C9Y,ENSG00000118096:ENST00000264021:exon3:c.G26A:p.C9Y,ENSG00000118096:ENST00000528378:exon3:c.G26A:p.C9Y,ENSG00000118096:ENST00000530872:exon3:c.G26A:p.C9Y,ENSG00000118096:ENST00000534114:exon3:c.G26A:p.C9Y,ENSG00000118096:ENST00000534156:exon3:c.G26A:p.C9Y,ENSG00000118096:ENST00000533918:exon4:c.G26A:p.C9Y Score=493;Name=lod=134 NA 11q23.3 NA NA NA NA rs11552421 0.24 0.24 0.232 0.27496 0.1352 0.5585 0.0821 0.2073 0.3548 0.14 0.52 0.09 0.18 0.1864 0.52 1 T 0.0 B 0.0 B 0.191 N 1.000 P -0.805 N 1.08 T -0.927 T 0.000 T 0.269 -0.844 0.564 1.48 0.092 0.084 4.510 -0.844017 NA 1 0.13248 0.198636 NA 0.203 NA 7.8792534 864 4 69536084 69536084 A C exonic UGT2B15 NA nonsynonymous SNV UGT2B15:NM_001076:exon1:c.T253G:p.Y85D exonic ENSG00000196620 NA nonsynonymous SNV ENSG00000196620:ENST00000338206:exon1:c.T253G:p.Y85D NA NA 4q13.2 NA NA NA NA rs1902023 0.56 0.56 0.542 0.546526 0.4871 0.5774 0.6052 0.6021 0.4591 0.48 0.58 0.61 0.64 0.5024 0.64 0.64 T 0.0 B 0.0 B 0.750 N 1.000 P -1.16 N 0.51 T -0.937 T 0.000 T 0.024 -2.341 0.004 2.58 0.401 -1.341 3.332 -2.341011 NA 0.78 0.464859 0.575909 NA 0.616 NA 7.8789744 864 16 2260567 2260567 C T exonic BRICD5 NA nonsynonymous SNV BRICD5:NM_182563:exon2:c.G136A:p.V46I exonic ENSG00000182685 NA nonsynonymous SNV ENSG00000182685:ENST00000328540:exon2:c.G136A:p.V46I,ENSG00000182685:ENST00000562360:exon2:c.G136A:p.V46I,ENSG00000182685:ENST00000566018:exon2:c.G136A:p.V46I NA NA 16p13.3 Score=740;Name=V$PAX4_04 Name=NRSF NA NA rs26857 0.52 0.52 0.47 0.515575 0.4702 0.6032 0.4841 0.497 0.5194 0.47 0.61 0.46 0.51 0.516 0.61 0.97 T 0.004 B 0.009 B 0.252 N 1.000 P -0.345 N 1.87 T -0.937 T 0.000 T 0.156 -1.389 0.024 1.17 0.298 0.241 4.464 -1.388868 NA 0.75 0.469259 0.497722 ID=COSM329187;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.442 NA 7.8778744 864 20 4705718 4705718 C T exonic PRND NA nonsynonymous SNV PRND:NM_012409:exon2:c.C521T:p.T174M exonic ENSG00000171864 NA nonsynonymous SNV ENSG00000171864:ENST00000305817:exon2:c.C521T:p.T174M NA NA 20p13 NA NA NA NA rs2245220 0.46 0.46 0.478 0.495208 0.4871 0.253 0.3646 0.6702 0.6094 0.49 0.26 0.39 0.7 0.4799 0.7 0.18 T 0.0 B 0.0 B 0.605 N 1.000 P -0.55 N -2.41 D -0.937 T 0.000 T 0.023 0.961 8.922 2.23 0.253 0.864 3.770 0.961269 NA 0.13 0.488827 0.635043 ID=COSM1412276;OCCURENCE=1(large_intestine) 0.471 NA 7.8775064 864 11 113270160 113270160 A G exonic ANKK1 NA nonsynonymous SNV ANKK1:NM_178510:exon8:c.A1469G:p.H490R exonic ENSG00000170209 NA nonsynonymous SNV ENSG00000170209:ENST00000303941:exon8:c.A1469G:p.H490R NA NA 11q23.2 NA NA NA NA rs2734849 0.27 0.27 0.257 0.245008 0.504 0.0625 0.3098 0.1044 0.3108 0.49 0.06 0.36 0.12 0.4502 0.5 0.75 T 0.0 B 0.003 B 0.721 N 1.000 P -1.89 N 2.47 T -0.903 T 0.000 T 0.026 -1.495 0.017 -9.31 -2.467 -0.114 17.949 -1.494949 NA 0.44 0.50167 0.164441 NA 0.188 NA 7.8774634 864 22 46656246 46656246 T G exonic PKDREJ NA nonsynonymous SNV PKDREJ:NM_006071:exon1:c.A2974C:p.T992P exonic ENSG00000130943 NA nonsynonymous SNV ENSG00000130943:ENST00000253255:exon1:c.A2974C:p.T992P NA NA 22q13.31 NA NA NA NA rs7291444 0.21 0.21 0.228 0.21266 0.16 0.001 0.1297 0.5575 0.0777 0.15 NA 0.15 0.57 0.1505 0.57 0.28 T 0.044 B 0.016 B 0.786 N 1.000 P 0.55 N 1.26 T -0.912 T 0.000 T 0.055 1.19 9.836 -1.26 -0.425 -1.782 5.654 1.189664 NA 0.15 0.145814 0.460962 NA 0.232 NA 7.8770194 864 2 219267781 219267781 C T exonic CTDSP1 NA synonymous SNV CTDSP1:NM_001206878:exon5:c.C399T:p.H133H,CTDSP1:NM_021198:exon5:c.C402T:p.H134H,CTDSP1:NM_182642:exon5:c.C399T:p.H133H exonic ENSG00000144579 NA synonymous SNV ENSG00000144579:ENST00000273062:exon5:c.C402T:p.H134H,ENSG00000144579:ENST00000443891:exon5:c.C399T:p.H133H Score=589;Name=lod=330 NA 2q35 NA NA NA NA rs2227255 0.51 0.51 0.447 0.465455 0.6163 0.6915 0.5764 0.0318 0.5849 0.64 0.7 0.59 0.05 0.5651 0.7 . . . . . . . . 0.000 P . . . . -0.983 T 0.000 T . 0.434 6.359 -2.71 -0.677 -2.503 12.043 0.434375 NA NA 0.610233 0.135497 ID=COSM1405459;OCCURENCE=1(large_intestine) 0.413 NA 7.8750336 865 18 33750046 33750046 C T exonic ELP2 NA synonymous SNV ELP2:NM_001242879:exon17:c.C1887T:p.C629C,ELP2:NM_001242878:exon18:c.C1887T:p.C629C,ELP2:NM_001242876:exon19:c.C2082T:p.C694C,ELP2:NM_001242877:exon19:c.C2019T:p.C673C,ELP2:NM_018255:exon20:c.C2097T:p.C699C,ELP2:NM_001242875:exon21:c.C2292T:p.C764C exonic ENSG00000134759 NA nonsynonymous SNV ENSG00000134759:ENST00000539560:exon20:c.C2045T:p.A682V Score=445;Name=lod=86 NA 18q12.2 Score=770;Name=V$AHRARNT_02 NA Name=3 NA rs8299 0.35 0.35 0.349 0.323682 0.3907 0.2014 0.3948 0.3812 0.2526 0.41 0.19 0.43 0.39 0.3507 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.53559 2.53559 NA 0.384419 0.368588 ID=COSM1388592;OCCURENCE=2(large_intestine) 0.326 NA 7.874181 865 22 31741067 31741067 G A exonic PATZ1 NA synonymous SNV PATZ1:NM_014323:exon1:c.C522T:p.L174L,PATZ1:NM_032050:exon1:c.C522T:p.L174L,PATZ1:NM_032051:exon1:c.C522T:p.L174L,PATZ1:NM_032052:exon1:c.C522T:p.L174L exonic ENSG00000100105 NA synonymous SNV ENSG00000100105:ENST00000215919:exon1:c.C522T:p.L174L,ENSG00000100105:ENST00000266269:exon1:c.C522T:p.L174L,ENSG00000100105:ENST00000351933:exon1:c.C522T:p.L174L,ENSG00000100105:ENST00000405309:exon1:c.C522T:p.L174L Score=751;Name=lod=1508 NA 22q12.2 Score=806;Name=V$HNF4_01 NA Name=90 NA rs714909 0.18 0.18 0.15 0.155152 0.2763 0.121 0.2536 0.0144 0.1861 0.29 0.13 0.24 0.02 0.2406 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6515 NA NA 0.275698 0.054698 NA 0.152 NA 7.8740686 865 11 802379 802379 T C exonic PIDD NA nonsynonymous SNV PIDD:NM_145886:exon6:c.A992G:p.Q331R,PIDD:NM_145887:exon6:c.A992G:p.Q331R exonic ENSG00000177595 NA nonsynonymous SNV ENSG00000177595:ENST00000411829:exon5:c.A992G:p.Q331R,ENSG00000177595:ENST00000347755:exon6:c.A992G:p.Q331R NA NA 11p15.5 NA NA NA NA rs10902221 0.43 0.43 0.38 0.351637 0.494 0.2748 0.6354 0.2927 0.1626 0.51 0.32 0.61 0.3 0.4552 0.61 1 T 0.0 B 0.002 B 0.781 N 1.000 P 0 N 1.26 T -0.956 T 0.000 T 0.219 -0.185 3.101 -3.74 -1.566 -0.263 8.803 -0.184843 NA 1 0.511287 0.316985 NA 0.355 NA 7.8728464 865 19 51918360 51918360 A G exonic SIGLEC10 NA nonsynonymous SNV SIGLEC10:NM_001171156:exon8:c.T1159C:p.S387P,SIGLEC10:NM_033130:exon8:c.T1333C:p.S445P exonic ENSG00000142512 NA nonsynonymous SNV ENSG00000142512:ENST00000339313:exon8:c.T1333C:p.S445P,ENSG00000142512:ENST00000356298:exon8:c.T1333C:p.S445P,ENSG00000142512:ENST00000439889:exon8:c.T1159C:p.S387P Score=278;Name=lod=18 NA 19q13.41 NA NA NA NA rs61741672 0.21 0.21 0.209 0.242212 0.1471 0.2113 0.1974 0.382 0.2147 0.14 0.18 0.18 0.36 0.1792 0.36 1 T 0.0 B 0.001 B 0.384 N 0.000 P -2.135 N 3.22 T -0.951 T 0.000 T 0.066 -2.126 0.005 -0.050 -0.430 0.332 6.338 -2.126313 NA 1 0.136427 0.325465 NA 0.21 NA 7.8706064 865 3 4856234 4856234 G A exonic ITPR1 NA synonymous SNV ITPR1:NM_002222:exon54:c.G7500A:p.K2500K,ITPR1:NM_001099952:exon55:c.G7545A:p.K2515K,ITPR1:NM_001168272:exon57:c.G7644A:p.K2548K exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000544951:exon16:c.G1578A:p.K526K,ENSG00000150995:ENST00000456211:exon54:c.G7500A:p.K2500K,ENSG00000150995:ENST00000357086:exon55:c.G7545A:p.K2515K,ENSG00000150995:ENST00000423119:exon55:c.G7545A:p.K2515K,ENSG00000150995:ENST00000443694:exon55:c.G7644A:p.K2548K,ENSG00000150995:ENST00000302640:exon57:c.G7644A:p.K2548K,ENSG00000150995:ENST00000354582:exon57:c.G7644A:p.K2548K Score=577;Name=lod=295 NA 3p26.1 NA Name=GTF2B,TBP,NF-E2,ELF1_(SC-631),CCNT2,c-Myc,MafK_(ab50322),eGFP-FOS,Pol2,HDAC2_(SC-6296),ZNF263,eGFP-JunD,c-Fos,c-Jun,p300_(F-4),eGFP-JunB,E2F6_(H-50) Name=52 NA rs901854 0.61 0.61 0.586 0.58746 0.5885 0.7202 0.5346 0.5295 0.5654 0.59 0.71 0.59 0.54 0.6054 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.354973 1.354973 NA 0.60258 0.580694 NA 0.558 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117305.2;CLNDSDB=.;CLNDSDBID=. 7.8701866 865 14 94931105 94931105 A G exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_175739:exon4:c.T1043C:p.V348A,SERPINA9:NM_001042518:exon5:c.T743C:p.V248A exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000337425:exon4:c.T1043C:p.V348A,ENSG00000170054:ENST00000380365:exon4:c.T989C:p.V330A,ENSG00000170054:ENST00000448305:exon4:c.T749C:p.V250A,ENSG00000170054:ENST00000546329:exon4:c.T935C:p.V312A,ENSG00000170054:ENST00000298845:exon5:c.T743C:p.V248A,ENSG00000170054:ENST00000424550:exon5:c.T596C:p.V199A NA NA 14q32.13 NA NA NA NA rs11628722 0.69 0.69 0.657 0.676118 0.8529 0.6468 0.7507 0.3759 0.8773 0.86 0.66 0.75 0.43 0.7773 0.86 0.71 T 0.001 B 0.011 B 0.009 N 1.000 P -0.25 N -1.74 D -0.961 T 0.000 T 0.027 -1.474 0.018 2.06 -0.106 1.074 5.200 -1.47384 NA 0.78 0.833741 0.464072 ID=COSM1371809,COSM1371810;OCCURENCE=1(large_intestine) 0.696 NA 7.8693924 865 4 70160277 70160277 T G exonic UGT2B28 NA nonsynonymous SNV UGT2B28:NM_053039:exon6:c.T1340G:p.I447R exonic ENSG00000135226 NA nonsynonymous SNV ENSG00000135226:ENST00000335568:exon6:c.T1340G:p.I447R Score=343;Name=lod=33 NA 4q13.2 NA NA NA NA rs6843900 0.37 0.37 0.337 0.376997 0.4771 0.3819 0.4524 0.2678 0.363 0.47 0.35 0.4 0.21 0.4862 0.5 1 T 0.0 B 0.0 B 0.042 N 0.000 P -1.425 N 0.22 T -0.921 T 0.000 T 0.081 -2.862 0 2.17 0.254 0.223 7.825 -2.861548 NA 1 0.502012 0.344665 ID=COSM149685;OCCURENCE=1(stomach) 0.304 NA 7.8680214 865 19 41930396 41930396 A G exonic BCKDHA NA synonymous SNV BCKDHA:NM_000709:exon9:c.A1221G:p.L407L,BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L exonic ENSG00000248098,ENSG00000255730 NA synonymous SNV ENSG00000248098:ENST00000269980:exon9:c.A1221G:p.L407L,ENSG00000248098:ENST00000457836:exon9:c.A1230G:p.L410L,ENSG00000248098:ENST00000595085:exon9:c.A1323G:p.L441L,ENSG00000255730:ENST00000540732:exon10:c.A1323G:p.L441L Score=387;Name=lod=50 NA 19q13.2 NA Name=ZNF263 Name=2 NA rs4674 0.61 0.61 0.637 0.617013 0.5924 0.4345 0.4885 0.8548 0.6002 0.58 0.46 0.57 0.86 0.6 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.209127 NA NA 0.608605 0.810486 NA 0.688 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079224.3;CLNDSDB=.;CLNDSDBID=. 7.8656616 865 11 1018116 1018116 T G exonic MUC6 NA nonsynonymous SNV MUC6:NM_005961:exon31:c.A4685C:p.N1562T exonic ENSG00000184956 NA nonsynonymous SNV ENSG00000184956:ENST00000421673:exon31:c.A4685C:p.N1562T NA NA 11p15.5 NA NA NA NA rs10902269 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4677 0.13 1 T 0.0 B 0.0 B . . 1.000 N -1.545 N 2.46 T -0.956 T 0.009 T 0.012 -2.106 0.006 -0.083 -0.322 2.208 4.152 -2.106408 NA 1 NA NA NA 0.094 NA 7.8656334 865 5 9629529 9629529 G A exonic TAS2R1 NA nonsynonymous SNV TAS2R1:NM_019599:exon1:c.C616T:p.R206W exonic ENSG00000169777 NA nonsynonymous SNV ENSG00000169777:ENST00000382492:exon1:c.C616T:p.R206W NA NA 5p15.31 NA NA NA NA rs2234233 0.12 0.12 0.112 0.114217 0.1521 0.1071 0.1268 0.028 0.1902 0.15 0.13 0.13 0.03 0.1505 0.17 . . 0.002 B 0.001 B 0.655 N 1.000 P -0.02 N 5.47 T -0.902 T 0.000 T 0.105 1.692 11.62 -11.3 -2.320 -0.202 2.355 1.692461 1.692461 0.06 0.165349 0.049024 ID=COSM149792;OCCURENCE=1(stomach) 0.109 NA 7.8653844 866 1 62261168 62261168 A G exonic INADL NA nonsynonymous SNV INADL:NM_176877:exon10:c.A1198G:p.I400V exonic ENSG00000132849 NA nonsynonymous SNV ENSG00000132849:ENST00000316485:exon10:c.A1198G:p.I400V,ENSG00000132849:ENST00000371158:exon10:c.A1198G:p.I400V Score=569;Name=lod=273 NA 1p31.3 NA NA NA NA rs7516332 0.42 0.42 0.394 0.434904 0.493 0.4514 0.5634 0.1808 0.6104 0.48 0.41 0.57 0.25 0.4909 0.57 0.41 T 0.013 B 0.034 B 0.041 N 0.000 P 0.285 N 2.52 T -0.970 T 0.000 T 0.041 0.854 8.454 -3.27 -0.790 0.533 4.416 0.853778 NA 0.18 0.484767 0.243759 ID=COSM1126971;OCCURENCE=1(prostate) 0.464 NA 7.8646664 866 17 7592168 7592168 C G exonic WRAP53 NA nonsynonymous SNV WRAP53:NM_018081:exon1:c.C202G:p.R68G,WRAP53:NM_001143990:exon2:c.C202G:p.R68G,WRAP53:NM_001143991:exon2:c.C202G:p.R68G,WRAP53:NM_001143992:exon2:c.C202G:p.R68G exonic ENSG00000141499 NA nonsynonymous SNV ENSG00000141499:ENST00000316024:exon1:c.C202G:p.R68G,ENSG00000141499:ENST00000534050:exon1:c.C202G:p.R68G,ENSG00000141499:ENST00000396463:exon2:c.C202G:p.R68G,ENSG00000141499:ENST00000431639:exon2:c.C202G:p.R68G,ENSG00000141499:ENST00000457584:exon2:c.C202G:p.R68G,ENSG00000141499:ENST00000498311:exon2:c.C202G:p.R68G NA NA 17p13.1 Score=735;Name=V$NRSF_01 NA NA NA rs2287499 0.34 0.34 0.396 0.406749 0.1421 0.2996 0.2421 0.8865 0.2577 0.14 0.26 0.2 0.84 0.2115 0.84 0.65 T 0.0 B 0.0 B 0.769 N 1.000 P -0.805 N 0.85 T -1.002 T 0.000 T 0.037 -0.772 0.753 1.08 -0.094 0.308 5.099 -0.77212 NA 0.29 0.116047 0.741035 NA 0.348 NA 7.8636864 866 19 56718585 56718585 A G intergenic ZSCAN5B,ZSCAN5A dist=14164;dist=14094 NA NA exonic ENSG00000204532 NA nonsynonymous SNV ENSG00000204532:ENST00000376267:exon2:c.A542G:p.Q181R,ENSG00000204532:ENST00000534327:exon3:c.A542G:p.Q181R NA NA 19q13.43 NA NA NA NA rs4801690 0.57 0.57 0.552 0.606829 0.4443 0.6726 0.5058 0.7685 0.5593 0.44 0.68 0.46 0.74 0.5256 0.74 0.89 T . . . . . . 1.000 P . . 3.24 T -0.993 T 0.000 T 0.034 -2.342 0.004 -2.68 -1.841 -2.143 3.716 -2.342288 NA 1 NA NA ID=COSM440413;OCCURENCE=1(breast) 0.565 NA 7.8634334 866 19 58233008 58233008 G A exonic ZNF671 NA nonsynonymous SNV ZNF671:NM_024833:exon4:c.C446T:p.A149V exonic ENSG00000083814 NA nonsynonymous SNV ENSG00000083814:ENST00000335820:exon3:c.C152T:p.A51V,ENSG00000083814:ENST00000317398:exon4:c.C446T:p.A149V NA NA 19q13.43 NA NA NA NA rs3746207 0.17 0.17 0.175 0.153155 0.175 0.0873 0.111 0.2814 0.0552 0.18 0.1 0.13 0.26 0.1477 0.26 0.25 T 0.171 B 0.014 B . . 1.000 P 0 N 3.46 T -0.900 T 0.000 T 0.043 1.158 9.713 -0.654 -0.229 -2.628 4.205 1.15755 NA 0.12 0.148837 0.264866 NA 0.152 NA 7.8617964 866 22 18650682 18650682 C T exonic USP18 NA nonsynonymous SNV USP18:NM_017414:exon6:c.C506T:p.T169M exonic ENSG00000184979 NA nonsynonymous SNV ENSG00000184979:ENST00000215794:exon6:c.C506T:p.T169M NA NA 22q11.21 NA NA NA NA rs3180408 0.28 0.28 0.232 0.297324 0.3072 0.1637 0.2997 0.3979 0.2873 0.32 0.16 0.3 0.35 0.3202 0.41 0.11 T 0.57 P 0.165 B 0.093 N 1.000 P 1.59 L 1.48 T -0.957 T 0.000 T 0.059 -0.311 2.52 -3.07 -0.757 -0.076 7.147 -0.311064 NA 0.24 0.344767 0.38788 ID=COSM149251;OCCURENCE=1(stomach) 0.377 NA 7.8611664 866 20 20032998 20032998 T C exonic CRNKL1 NA nonsynonymous SNV CRNKL1:NM_016652:exon2:c.A472G:p.T158A exonic ENSG00000101343 NA nonsynonymous SNV ENSG00000101343:ENST00000377327:exon2:c.A436G:p.T146A,ENSG00000101343:ENST00000377340:exon2:c.A472G:p.T158A NA NA 20p11.23 NA Name=TAF1,GABP,SP1,Pol2,HNF4A,YY1_(C-20),TR4,FOXA2_(SC-6554),ELF1_(SC-631),FOXA1_(SC-101058),HNF4G_(SC-6558),HNF4A_(H-171),FOXA1_(C-20),YY1,Pol2-4H8,ZNF263,HEY1,NFKB,TCF12,TBP Name=148 NA rs2255255 0.54 0.54 0.506 0.51897 0.4871 0.7024 0.549 0.4425 0.4448 0.49 0.7 0.52 0.44 0.5099 0.7 1 T 0.0 B 0.0 B 0.004 N 1.000 P 0 N 1.59 T -0.939 T 0.000 T 0.028 -0.126 3.383 -0.469 -0.461 -0.451 2.587 -0.125925 NA 1 0.475233 0.441217 ID=COSM1565881;OCCURENCE=1(large_intestine) 0.464 NA 7.8611004 866 12 133435716 133435716 T G exonic CHFR NA synonymous SNV CHFR:NM_001161347:exon6:c.A609C:p.P203P,CHFR:NM_001161344:exon8:c.A885C:p.P295P,CHFR:NM_001161345:exon8:c.A885C:p.P295P,CHFR:NM_001161346:exon8:c.A849C:p.P283P,CHFR:NM_018223:exon8:c.A762C:p.P254P exonic ENSG00000072609 NA synonymous SNV ENSG00000072609:ENST00000443047:exon6:c.A609C:p.P203P,ENSG00000072609:ENST00000266880:exon8:c.A885C:p.P295P,ENSG00000072609:ENST00000315585:exon8:c.A762C:p.P254P,ENSG00000072609:ENST00000432561:exon8:c.A885C:p.P295P,ENSG00000072609:ENST00000450056:exon8:c.A849C:p.P283P Score=481;Name=lod=120 NA 12q24.33 Score=881;Name=V$EVI1_05 Name=c-Myc NA NA rs35011845 0.18 0.18 0.151 0.142173 0.2793 0.1726 0.1585 0.0106 0.136 0.29 0.18 0.16 0.02 0.2293 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105281 NA NA 0.298721 0.050613 NA 0.159 NA 7.8593456 866 6 30297529 30297529 T C exonic TRIM39,TRIM39-RPP21 NA synonymous SNV TRIM39-RPP21:NM_001199119:exon1:c.T435C:p.D145D,TRIM39:NM_021253:exon3:c.T435C:p.D145D,TRIM39:NM_172016:exon3:c.T435C:p.D145D exonic ENSG00000204599,ENSG00000248167 NA synonymous SNV ENSG00000248167:ENST00000513556:exon1:c.T171C:p.D57D,ENSG00000204599:ENST00000396547:exon2:c.T435C:p.D145D,ENSG00000204599:ENST00000376656:exon3:c.T435C:p.D145D,ENSG00000204599:ENST00000376659:exon3:c.T435C:p.D145D,ENSG00000204599:ENST00000396551:exon3:c.T435C:p.D145D,ENSG00000204599:ENST00000428728:exon3:c.T435C:p.D145D,ENSG00000204599:ENST00000540416:exon3:c.T435C:p.D145D,ENSG00000204599:ENST00000396548:exon4:c.T435C:p.D145D Score=431;Name=lod=75 NA 6p22.1 NA NA NA NA rs2057727 0.34 0.34 0.311 0.380791 0.2525 0.506 0.4539 0.3222 0.411 0.23 0.47 0.41 0.32 0.3042 0.47 . . . . . . . . 0.000 P . . . . -1.034 T 0.043 T . 0.992 9.049 -1.57 -0.658 -1.096 6.540 0.991596 NA NA 0.250646 0.291446 NA 0.384 NA 7.8593206 866 20 20033242 20033242 A T exonic CRNKL1 NA synonymous SNV CRNKL1:NM_016652:exon2:c.T228A:p.V76V exonic ENSG00000101343 NA stopgain ENSG00000101343:ENST00000496549:exon2:c.T98A:p.L33X NA NA 20p11.23 Score=880;Name=V$SPZ1_01 Name=CTCF,ELF1_(SC-631),Max,Mxi1_(bHLH),PU.1,SP1,Pol2,TR4,CTCFL_(SC-98982),ETS1,SREBP1,GABP,c-Myc,PAX5-C20,PAX5-N19,c-Fos,KAP1,HA-E2F1,Sin3Ak-20,FOSL2 Name=148 NA rs2273057 0.54 0.54 0.519 0.51897 0.4871 0.7024 0.549 0.4425 0.4448 0.49 0.7 0.52 0.44 0.5114 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.165787 4.165787 NA 0.475808 0.440309 NA 0.522 NA 7.8590253 866 9 139752899 139752899 T G exonic MAMDC4 NA nonsynonymous SNV MAMDC4:NM_206920:exon22:c.T2722G:p.W908G exonic ENSG00000177943 NA nonsynonymous SNV ENSG00000177943:ENST00000317446:exon22:c.T2722G:p.W908G,ENSG00000177943:ENST00000445819:exon24:c.T2959G:p.W987G NA NA 9q34.3 NA NA NA NA rs2275156 0.71 0.71 0.773 NA NA NA NA NA NA 0.68 0.82 0.55 0.73 0.7448 0.83 0.68 T 0.734 P 0.458 P 0.112 N 0.999 P 1.95 M 4.67 T -1.019 T 0.000 T 0.367 0.171 4.918 1.29 -0.021 0.076 3.767 0.170594 NA 0.6 0.729856 0.832954 NA 0.79 NA 7.8586774 866 19 45162189 45162189 C A exonic PVR NA nonsynonymous SNV PVR:NM_001135770:exon6:c.C1171A:p.R391S exonic ENSG00000073008 NA nonsynonymous SNV ENSG00000073008:ENST00000406449:exon6:c.C1171A:p.R391S NA NA 19q13.31 NA NA NA NA rs35385129 0.16 0.16 0.17 0.165136 0.1481 0.3393 0.0749 0.0651 0.2025 0.15 0.33 0.07 0.07 0.1688 0.33 . . 0.065 B 0.019 B . . 1.000 P . . -2.25 D -1.102 T 0.000 T 0.048 -0.04 3.809 0.956 0.397 0.662 6.189 -0.040136 NA 0.14 0.160698 0.083296 NA 0.203 NA 7.8557354 866 5 79616936 79616936 A C exonic SPZ1 NA nonsynonymous SNV SPZ1:NM_032567:exon1:c.A902C:p.H301P exonic ENSG00000164299 NA nonsynonymous SNV ENSG00000164299:ENST00000296739:exon1:c.A902C:p.H301P NA NA 5q14.1 NA NA NA NA rs35337118 0.1 0.1 0.081 0.0948482 0.162 NA 0.1138 0.0749 0.137 0.16 NA 0.14 0.06 0.1437 0.17 0.25 T 0.003 B 0.003 B 0.108 N 1.000 P 1.495 L 1.44 T -1.040 T 0.000 T 0.073 2.323 13.73 -3.41 -0.560 0.033 0.641 2.323161 2.323161 0.11 0.172364 0.079265 NA 0.094 NA 7.8552694 867 4 70160309 70160309 C G exonic UGT2B28 NA nonsynonymous SNV UGT2B28:NM_053039:exon6:c.C1372G:p.H458D exonic ENSG00000135226 NA nonsynonymous SNV ENSG00000135226:ENST00000335568:exon6:c.C1372G:p.H458D Score=527;Name=lod=184 NA 4q13.2 NA NA NA NA rs6828191 0.4 0.4 0.362 0.376997 0.4771 0.3819 0.4524 0.2678 0.363 0.5 0.37 0.44 0.23 0.4917 0.51 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.85 N 1.31 T -0.903 T 0.000 T 0.051 -2.368 0.004 1.85 0.124 4.502 7.946 -2.368089 NA 1 0.509695 0.350964 NA 0.348 NA 7.8548384 867 22 43936219 43936219 C T exonic EFCAB6 NA nonsynonymous SNV EFCAB6:NM_198856:exon26:c.G3211A:p.E1071K,EFCAB6:NM_022785:exon28:c.G3667A:p.E1223K exonic ENSG00000186976 NA nonsynonymous SNV ENSG00000186976:ENST00000396231:exon26:c.G3211A:p.E1071K,ENSG00000186976:ENST00000262726:exon28:c.G3667A:p.E1223K NA NA 22q13.2 NA NA NA NA rs61995890 0.12 0.12 0.104 0.0984425 0.172 0.0288 0.1066 0.0847 0.1074 0.18 0.03 0.12 0.12 0.139 0.18 0.34 T 0.037 B 0.032 B 0.026 N 0.026 P 1.375 L -1.34 T -1.088 T 0.001 T 0.266 1.705 11.66 2.02 0.787 0.472 5.093 1.704657 1.704657 0.18 0.167907 0.103495 NA 0.188 NA 7.8544264 867 9 94985637 94985637 T C exonic IARS NA nonsynonymous SNV IARS:NM_002161:exon32:c.A3544G:p.K1182E,IARS:NM_013417:exon32:c.A3544G:p.K1182E exonic ENSG00000196305 NA nonsynonymous SNV ENSG00000196305:ENST00000447699:exon31:c.A3214G:p.K1072E,ENSG00000196305:ENST00000375643:exon32:c.A3544G:p.K1182E,ENSG00000196305:ENST00000443024:exon32:c.A3544G:p.K1182E NA NA 9q22.31 NA NA NA NA rs556155 0.12 0.12 0.118 0.160543 0.1461 0.121 0.1988 0.0537 0.3333 0.15 0.12 0.17 0.05 0.1727 0.17 0.88 T 0.0 B 0.002 B 0.112 N 1.000 P -0.49 N 0.94 T -1.019 T 0.000 T 0.272 -0.274 2.687 2.58 0.499 0.383 6.598 -0.274075 NA 0.81 0.161744 0.072855 NA 0.123 NA 7.8527894 867 11 7818313 7818313 C T exonic OR5P2 NA synonymous SNV OR5P2:NM_153444:exon1:c.G177A:p.L59L exonic ENSG00000183303 NA synonymous SNV ENSG00000183303:ENST00000329434:exon1:c.G177A:p.L59L Score=325;Name=lod=28 NA 11p15.4 Score=838;Name=V$MAX_01 Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs73406609 0.27 0.27 0.259 0.236621 0.2763 0.128 0.2911 0.348 0.1186 0.29 0.15 0.28 0.37 0.2571 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140367 NA NA 0.282036 0.324369 NA 0.246 NA 7.8512306 867 10 96827178 96827178 T C intronic CYP2C8 NA NA NA exonic ENSG00000138115 NA nonsynonymous SNV ENSG00000138115:ENST00000539050:exon2:c.A10G:p.K4E NA NA 10q23.33 NA NA NA NA rs2275622 0.67 0.67 0.685 0.646366 0.6839 0.4534 0.4856 0.8321 0.6697 0.68 0.52 0.6 0.85 0.6316 0.85 1 T 0.0 B 0.0 B . . 1.000 P . . -0.65 T -0.952 T 0.000 T 0.037 -2.491 0.003 -6.97 -5.673 -4.072 0.112 -2.490695 NA NA NA NA NA 0.623 NA 7.8511667 867 13 23909162 23909162 A G exonic SACS NA synonymous SNV SACS:NM_014363:exon10:c.T8853C:p.V2951V exonic ENSG00000151835 NA synonymous SNV ENSG00000151835:ENST00000402364:exon8:c.T6603C:p.V2201V,ENSG00000151835:ENST00000382292:exon9:c.T8853C:p.V2951V,ENSG00000151835:ENST00000382298:exon10:c.T8853C:p.V2951V Score=494;Name=lod=136 NA 13q12.12 Score=729;Name=V$SEF1_C NA NA NA rs9552929 0.27 0.27 0.228 0.259185 0.2783 0.3145 0.3617 0.056 0.3845 0.28 0.36 0.36 0.07 0.278 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134361 NA NA 0.26 0.096913 NA 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118234.2;CLNDSDB=.;CLNDSDBID=. 7.8503666 867 13 23911820 23911820 A G exonic SACS NA synonymous SNV SACS:NM_014363:exon10:c.T6195C:p.I2065I exonic ENSG00000151835 NA synonymous SNV ENSG00000151835:ENST00000402364:exon8:c.T3945C:p.I1315I,ENSG00000151835:ENST00000382292:exon9:c.T6195C:p.I2065I,ENSG00000151835:ENST00000382298:exon10:c.T6195C:p.I2065I Score=628;Name=lod=476 NA 13q12.12 Score=846;Name=V$OCT1_02 NA NA NA rs4143768 0.27 0.27 0.222 0.259984 0.2783 0.3155 0.3617 0.056 0.3875 0.28 0.37 0.36 0.07 0.2809 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416524 NA NA 0.258789 0.095638 NA 0.159 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118232.2;CLNDSDB=.;CLNDSDBID=. 7.8486776 867 6 30680916 30680916 C T exonic MDC1 NA nonsynonymous SNV MDC1:NM_014641:exon5:c.G803A:p.R268K exonic ENSG00000137337 NA nonsynonymous SNV ENSG00000137337:ENST00000376405:exon5:c.G803A:p.R268K,ENSG00000137337:ENST00000376406:exon5:c.G803A:p.R268K NA NA 6p21.33 NA NA NA NA rs9262152 0.11 0.11 0.093 0.106629 0.1789 0.0556 0.1412 0.0091 0.1922 0.18 0.07 0.13 0.02 0.1479 0.18 0.86 T 0.046 B 0.019 B 0.500 N 1.000 P 0.57 N 4.37 T -0.935 T 0.001 T 0.057 -0.554 1.495 -2.14 -0.391 -0.735 1.246 -0.553583 NA 0 0.158176 0.031767 NA 0.094 NA 7.8483574 867 7 18767343 18767343 A G exonic HDAC9 NA synonymous SNV HDAC9:NM_058176:exon12:c.A1863G:p.P621P,HDAC9:NM_178425:exon12:c.A1872G:p.P624P,HDAC9:NM_178423:exon13:c.A1863G:p.P621P exonic ENSG00000048052 NA synonymous SNV ENSG00000048052:ENST00000401921:exon11:c.A1740G:p.P580P,ENSG00000048052:ENST00000432645:exon12:c.A1863G:p.P621P,ENSG00000048052:ENST00000441542:exon12:c.A1872G:p.P624P,ENSG00000048052:ENST00000406451:exon13:c.A1863G:p.P621P Score=374;Name=lod=44 NA 7p21.1 Score=861;Name=V$CREB_02 NA Name=6 NA rs1178127 0.33 0.33 0.291 0.329872 0.2565 0.5159 0.2997 0.2133 0.3926 0.26 0.53 0.27 0.24 0.3117 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043402 NA NA 0.250783 0.202309 NA 0.297 NA 7.8476836 867 9 125315557 125315557 T C exonic OR1N2 NA nonsynonymous SNV OR1N2:NM_001004457:exon1:c.T109C:p.W37R exonic ENSG00000171501 NA nonsynonymous SNV ENSG00000171501:ENST00000373688:exon1:c.T109C:p.W37R NA NA 9q33.2 NA NA NA NA rs1831370 0.55 0.55 0.516 0.558506 0.4791 0.6637 0.5908 0.5946 0.4601 0.47 0.62 0.58 0.57 0.5173 0.62 0.3 T 0.0 B 0.0 B 0.590 N 1.000 P -0.48 N 5.39 T -1.075 T 0.000 T 0.012 -0.653 1.129 -2.62 -0.761 -5.227 0.670 -0.653039 NA 0.43 0.489767 0.573763 ID=COSM150700;OCCURENCE=1(stomach) 0.428 NA 7.8471664 867 3 27332177 27332177 T C exonic NEK10 NA synonymous SNV NEK10:NM_199347:exon20:c.A1674G:p.G558G exonic ENSG00000163491 NA synonymous SNV ENSG00000163491:ENST00000341435:exon20:c.A1674G:p.G558G,ENSG00000163491:ENST00000429845:exon20:c.A1674G:p.G558G Score=629;Name=lod=480 NA 3p24.1 Score=915;Name=V$EVI1_04 NA NA NA rs674303 0.36 0.36 0.373 0.389776 0.2634 0.1776 0.2608 0.8502 0.2076 0.25 0.14 0.27 0.83 0.2851 0.83 . . . . . . . . 0.000 P . . . . -1.042 T 0.000 T . 1.209 9.91 1.59 0.090 0.201 2.159 1.209279 NA NA 0.272613 0.728316 NA 0.449 NA 7.8455536 867 1 24658063 24658063 C G exonic GRHL3 NA nonsynonymous SNV GRHL3:NM_001195010:exon2:c.C27G:p.D9E,GRHL3:NM_021180:exon2:c.C180G:p.D60E,GRHL3:NM_198173:exon2:c.C165G:p.D55E,GRHL3:NM_198174:exon2:c.C165G:p.D55E exonic ENSG00000158055 NA nonsynonymous SNV ENSG00000158055:ENST00000236255:exon2:c.C180G:p.D60E,ENSG00000158055:ENST00000350501:exon2:c.C165G:p.D55E,ENSG00000158055:ENST00000356046:exon2:c.C27G:p.D9E,ENSG00000158055:ENST00000361548:exon2:c.C165G:p.D55E,ENSG00000158055:ENST00000524724:exon2:c.C27G:p.D9E Score=391;Name=lod=52 NA 1p36.11 NA NA NA NA rs2486668 0.17 0.17 0.172 0.178514 0.164 0.1944 0.1311 0.2277 0.1442 0.17 0.18 0.15 0.2 0.1597 0.21 0.17 T 0.003 B 0.011 B 0.000 N 0.000 P 1.485 L 0.67 T -1.081 T 0.000 T 0.121 3.004 16.02 0.337 0.353 0.647 2.934 3.004367 3.004367 0.08 0.164419 0.206764 ID=COSM146450;OCCURENCE=1(stomach) 0.203 NA 7.8452144 867 8 144654594 144654594 G T exonic MROH6 NA nonsynonymous SNV MROH6:NM_001100878:exon1:c.C291A:p.H97Q exonic ENSG00000204839 NA nonsynonymous SNV ENSG00000204839:ENST00000398882:exon1:c.C291A:p.H97Q,ENSG00000204839:ENST00000529971:exon1:c.C291A:p.H97Q NA NA 8q24.3 NA NA Name=5 NA rs4873803 0.37 0.37 0.296 0.316893 0.5219 0.3552 0.4107 0.1021 0.2904 0.53 0.32 0.49 0.12 0.4499 0.53 0.32 T 0.003 B 0.003 B . . 0.995 P 0 N 4.15 T -0.910 T 0.000 T 0.137 2.391 13.95 -3.9 -0.596 -0.255 3.009 2.390863 2.390863 0.92 0.516389 0.165607 NA 0.304 NA 7.8451444 868 6 51890823 51890823 G A exonic PKHD1 NA nonsynonymous SNV PKHD1:NM_138694:exon32:c.C3785T:p.A1262V,PKHD1:NM_170724:exon32:c.C3785T:p.A1262V exonic ENSG00000170927 NA nonsynonymous SNV ENSG00000170927:ENST00000340994:exon32:c.C3785T:p.A1262V,ENSG00000170927:ENST00000371117:exon32:c.C3785T:p.A1262V NA NA 6p12.2 NA NA NA NA rs9296669 0.4 0.4 0.342 0.354633 0.502 0.381 0.5879 0.1051 0.3476 0.51 0.37 0.58 0.12 0.4698 0.58 0.42 T 0.0 B 0.001 B 0.035 N 1.000 P -1.245 N -2.01 D -0.956 T 0.090 T 0.019 1.32 10.33 -1.36 -0.700 0.265 0.749 1.320491 1.320491 1 0.516628 0.149796 NA 0.478 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082549.1;CLNDSDB=.;CLNDSDBID=. 7.8449054 868 14 75746690 75746690 C T exonic FOS NA synonymous SNV FOS:NM_005252:exon2:c.C252T:p.S84S exonic ENSG00000170345 NA nonsynonymous SNV ENSG00000170345:ENST00000557139:exon1:c.C10T:p.R4C,ENSG00000170345:ENST00000554212:exon2:c.C223T:p.R75C NA NA 14q24.3 NA Name=Pol2-4H8,TAF7_(SQ-8),Pol2 Name=85 NA rs1046117 0.71 0.71 0.702 0.702476 0.7237 0.5665 0.647 0.9191 0.5675 0.73 0.56 0.65 0.91 0.7054 0.91 . . . . . . . . 0.000 P . . -1.36 T -1.008 T 0.000 T . 2.026 12.73 -1.11 -0.320 -1.756 4.167 2.025885 2.025885 NA 0.727674 0.883795 NA 0.761 NA 7.843226 868 19 44418824 44418824 C T exonic ZNF45 NA nonsynonymous SNV ZNF45:NM_003425:exon10:c.G764A:p.R255K exonic ENSG00000124459 NA nonsynonymous SNV ENSG00000124459:ENST00000589703:exon4:c.G764A:p.R255K,ENSG00000124459:ENST00000269973:exon10:c.G764A:p.R255K Score=325;Name=lod=28 NA 19q13.31 NA Name=SETDB1 NA NA rs399098 0.47 0.47 0.418 0.414337 0.5119 0.5486 0.5764 0.174 0.3855 0.51 0.57 0.51 0.25 0.479 0.57 1 T 0.0 B 0.0 B 0.023 N 0.969 P -0.06 N 3.01 T -0.936 T 0.000 T 0.047 0.338 5.834 0.479 0.402 -0.022 5.566 0.338167 NA 1 0.500698 0.225601 ID=COSM1178459;OCCURENCE=1(prostate) 0.413 NA 7.8417354 868 21 47786524 47786524 A G exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon15:c.A2635G:p.T879A exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon15:c.A2635G:p.T879A NA NA 21q22.3 NA NA NA NA rs2839227 0.27 0.27 0.287 0.316693 0.1521 0.2014 0.2464 0.5787 0.3006 0.15 0.21 0.2 0.56 0.205 0.56 0.45 T 0.264 B 0.019 B 0.880 N 1.000 P 1.7 L 4.77 T -1.054 T 0.000 T 0.089 0.706 7.766 1.81 0.438 2.418 4.146 0.706433 NA 0.16 0.136194 0.501139 NA 0.304 NA 7.8400394 868 2 112754943 112754943 C T exonic MERTK NA synonymous SNV MERTK:NM_006343:exon10:c.C1494T:p.N498N exonic ENSG00000153208 NA synonymous SNV ENSG00000153208:ENST00000409780:exon9:c.C966T:p.N322N,ENSG00000153208:ENST00000295408:exon10:c.C1494T:p.N498N,ENSG00000153208:ENST00000421804:exon10:c.C1494T:p.N498N NA NA 2q13 Score=867;Name=V$RFX1_01 NA NA NA rs3811634 0.18 0.18 0.184 0.190495 0.2873 0.1696 0.1888 0.1036 0.2311 0.25 0.12 0.22 0.09 0.2385 0.3 0.01 D . . . . . . 1.000 P . . . . -1.042 T 0.000 T . 0.511 6.769 1.35 0.254 -0.329 9.338 0.510703 NA 0.01 0.301279 0.148888 ID=COSM1398800;OCCURENCE=1(large_intestine) 0.21 NA 7.8395876 868 11 56468416 56468416 G A exonic OR9G1,OR9G9 NA nonsynonymous SNV OR9G1:NM_001005213:exon1:c.G553A:p.E185K,OR9G9:NM_001013358:exon1:c.G553A:p.E185K exonic ENSG00000174914 NA nonsynonymous SNV ENSG00000174914:ENST00000312153:exon1:c.G553A:p.E185K NA NA 11q12.1 NA NA NA NA rs11228735 0.49 0.49 NA NA NA NA NA NA NA 0.49 0.48 0.5 0.5 0.494 0.5 0.64 T 0.0 B 0.001 B 0.034 N 1.000 N -1.7 N 9.06 T -0.889 T 0.000 T 0.107 -1.239 0.055 2.14 0.329 0.503 1.207 -1.238785 NA 1 NA NA NA 0.232 NA 7.8393334 868 5 134782576 134782576 T G exonic C5orf20 NA nonsynonymous SNV C5orf20:NM_130848:exon1:c.A223C:p.T75P exonic ENSG00000251380 NA nonsynonymous SNV ENSG00000251380:ENST00000503143:exon1:c.A223C:p.T75P NA NA 5q31.1 NA NA NA NA rs1031844 0.61 0.61 0.634 0.645367 0.5159 0.5635 0.5533 0.9319 0.5409 0.5 0.55 0.51 0.92 0.5178 0.92 0 D 0.0 B 0.0 B . . 1.000 P 0 N 1.17 T -1.054 T 0.000 T 0.057 0.325 5.763 2.27 0.366 -0.268 3.820 0.325211 NA NA 0.460698 0.859964 NA 0.761 NA 7.8389354 868 8 124664167 124664167 T C exonic KLHL38 NA nonsynonymous SNV KLHL38:NM_001081675:exon1:c.A1000G:p.I334V exonic ENSG00000175946 NA nonsynonymous SNV ENSG00000175946:ENST00000325995:exon1:c.A1000G:p.I334V NA NA 8q24.13 NA NA NA NA rs11784192 0.75 0.75 0.766 0.726238 0.8579 0.7113 0.7118 0.6641 0.7004 0.86 0.7 0.73 0.65 0.7908 0.86 0.97 T 0.0 B 0.007 B 0.086 N 1.000 P 0.735 N -0.32 T -0.933 T 0.000 T 0.03 -2.19 0.005 -2.96 -1.421 -1.023 14.820 -2.190054 NA 1 0.847056 0.71875 NA 0.826 NA 7.8375774 868 5 147477551 147477551 C T exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon11:c.C1004T:p.A335V,SPINK5:NM_001127699:exon11:c.C1004T:p.A335V,SPINK5:NM_006846:exon11:c.C1004T:p.A335V exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon11:c.C1004T:p.A335V,ENSG00000133710:ENST00000359874:exon11:c.C1004T:p.A335V,ENSG00000133710:ENST00000398454:exon11:c.C1004T:p.A335V,ENSG00000133710:ENST00000508733:exon11:c.C947T:p.A316V Score=503;Name=lod=148 NA 5q32 NA NA NA NA rs34482796 0.44 0.44 0.394 0.446486 0.4831 0.4802 0.6282 0.2534 0.5061 0.46 0.46 0.6 0.28 0.507 0.6 0.24 T 0.017 B 0.046 B 0.031 N 0.964 P 1.63 L 3.51 T -1.019 T 0.000 T 0.36 1.408 10.64 2.65 0.095 0.065 7.800 1.408263 1.408263 0.32 0.50597 0.297581 NA 0.377 NA 7.8372634 868 5 134782510 134782510 T C exonic C5orf20 NA nonsynonymous SNV C5orf20:NM_130848:exon1:c.A289G:p.N97D exonic ENSG00000251380 NA nonsynonymous SNV ENSG00000251380:ENST00000503143:exon1:c.A289G:p.N97D NA NA 5q31.1 NA NA NA NA rs12520809 0.61 0.61 0.617 0.645168 0.5149 0.5645 0.5533 0.9312 0.5409 0.5 0.55 0.51 0.92 0.518 0.92 0 D 0.0 B 0.0 B . . 1.000 P 0 N 1.24 T -1.037 T 0.000 T 0.013 -0.049 3.765 -1.38 -0.932 -1.320 6.732 -0.048825 NA NA 0.463605 0.86246 NA 0.761 NA 7.8368284 868 6 29910358 29910358 C G exonic HLA-A NA nonsynonymous SNV HLA-A:NM_001242758:exon1:c.C28G:p.L10V,HLA-A:NM_002116:exon1:c.C28G:p.L10V exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376802:exon1:c.C28G:p.L10V,ENSG00000206503:ENST00000376806:exon1:c.C28G:p.L10V,ENSG00000206503:ENST00000376809:exon1:c.C28G:p.L10V,ENSG00000206503:ENST00000396634:exon3:c.C28G:p.L10V NA NA 6p22.1 NA Name=TBP,GTF2F1_(RAP-74),HEY1,HNF4G_(SC-6558),Oct-2,RFX5_(N-494),SP1,Pol2,Pol2(phosphoS2),YY1,TAF7_(SQ-8),YY1_(C-20),Sin3Ak-20,Pol2-4H8,TAF1,POU2F2 Name=144 NA rs1143146 0.52 0.52 0.463 0.505391 0.5119 0.5397 0.5965 0.4743 0.4407 0.51 0.58 0.55 0.47 0.5044 0.58 1 T 0.0 B 0.003 B 0.829 N 1.000 P . . 5.71 T -0.984 T 0.000 T 0.247 0.853 8.451 -0.398 -0.192 -0.182 4.198 0.853152 NA 0.41 0.481024 0.475261 NA 0.384 NA 7.8360094 868 1 248202344 248202344 G C exonic OR2L2 NA nonsynonymous SNV OR2L2:NM_001004686:exon1:c.G775C:p.V259L exonic ENSG00000203663 NA nonsynonymous SNV ENSG00000203663:ENST00000366479:exon1:c.G775C:p.V259L NA NA 1q44 NA NA NA NA rs6658141 0.34 0.34 0.367 0.345048 0.1551 0.3036 0.1484 0.7799 0.135 0.15 0.35 0.16 0.77 0.1973 0.77 0.63 T 0.0 B 0.001 B 0.027 N 1.000 P . . 1.4 T -0.989 T 0.000 T 0.053 -1.082 0.161 1.9 0.046 -3.472 3.346 -1.081535 NA 1 0.145233 0.682025 NA 0.312 NA 7.8357004 869 7 100551793 100551793 G T intergenic ACHE,MUC12 dist=58252;dist=61111 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.G544T:p.V182F NA NA 7q22.1 NA NA NA NA rs73398735 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4991 0.46 0.71 T 0.531 P 0.022 B . . 0.711 N 0 N 3.26 T -0.932 T 0.007 T 0.128 -1.521 0.016 -2.65 -1.240 -0.567 3.729 -1.521246 NA 0.44 NA NA NA 0.471 NA 7.8342334 869 17 39383073 39383073 G C exonic KRTAP9-2 NA nonsynonymous SNV KRTAP9-2:NM_031961:exon1:c.G167C:p.C56S exonic ENSG00000239886 NA nonsynonymous SNV ENSG00000239886:ENST00000377721:exon1:c.G167C:p.C56S,ENSG00000239886:ENST00000455970:exon1:c.G167C:p.C56S Score=278;Name=lod=18 NA 17q21.2 NA NA NA NA rs9902235 0.7 0.7 0.633 0.709065 0.7455 0.6319 0.8329 0.6044 0.8047 0.74 0.64 0.82 0.61 0.7536 0.82 0.12 T 0.124 B 0.062 B . . 0.609 P 2.42 M 4.46 T -1.073 T 0.000 T 0.308 1.353 10.45 1.92 0.793 0.915 4.965 1.352814 1.352814 0 NA NA NA 0.696 NA 7.8342334 869 1 144871755 144871755 A T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_014644:exon32:c.T5207A:p.V1736E exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon32:c.T5207A:p.V1736E,ENSG00000178104:ENST00000369356:exon32:c.T5207A:p.V1736E,ENSG00000178104:ENST00000530740:exon34:c.T5462A:p.V1821E,ENSG00000178104:ENST00000369359:exon35:c.T5615A:p.V1872E NA NA 1q21.1 NA Name=PU.1 NA NA rs1778159 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.47 0.32 T 0.361 B 0.069 B . . 1.000 N 1.59 L 4.81 T -0.931 T 0.002 T 0.271 2.221 13.38 0.597 0.127 0.238 7.646 2.221371 2.221371 0.14 NA NA NA 0.449 NA 7.8333334 869 17 2318550 2318550 G C ncRNA_exonic LOC284009 NA NA NA ncRNA_exonic ENSG00000205821 NA NA NA NA NA 17p13.3 NA NA NA NA rs4613098 0.39 0.39 0.399 0.461661 0.2565 0.3056 0.2594 0.7398 0.6012 0.26 0.35 0.28 0.72 0.3349 0.72 0 D 0.0 B 0.0 B . . . . . . . . -0.957 T 0.000 T . -0.245 2.818 -3.33 -0.755 -1.065 5.425 -0.245391 NA NA 0.242271 0.651561 NA 0.348 NA 7.8329956 869 10 46999151 46999151 T C exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.T271C:p.W91R exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.T271C:p.W91R,ENSG00000204175:ENST00000374317:exon3:c.T271C:p.W91R Score=343;Name=lod=33 NA 10q11.22 NA NA NA NA rs3127820 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5017 0.48 1 T 0.0 B 0.0 B 0.016 N 1.000 N -2.015 N 4.16 T -0.916 T 0.002 T 0.143 -0.623 1.236 1.98 0.330 -0.664 6.647 -0.622628 NA 1 NA NA NA 0.493 NA 7.8316334 869 12 8329652 8329652 A G exonic ZNF705A NA nonsynonymous SNV ZNF705A:NM_001004328:exon5:c.A376G:p.T126A exonic ENSG00000196946 NA nonsynonymous SNV ENSG00000196946:ENST00000359286:exon5:c.A376G:p.T126A,ENSG00000196946:ENST00000396570:exon6:c.A376G:p.T126A NA NA 12p13.31 NA NA NA NA rs10743251 0.48 0.48 0.423 NA NA NA NA NA NA 0.52 0.48 0.46 0.42 0.5021 0.52 0.3 T 0.225 B 0.02 B . . 1.000 P 0.61 N 3.21 T -0.963 T 0.000 T 0.053 0.649 7.485 1.35 0.891 2.005 4.263 0.64944 NA 0.1 NA NA ID=COSM147414;OCCURENCE=1(stomach) NA NA 7.8312334 869 10 46998999 46998999 G A exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G119A:p.R40H exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.G119A:p.R40H,ENSG00000204175:ENST00000374317:exon3:c.G119A:p.R40H Score=399;Name=lod=56 NA 10q11.22 NA NA NA NA rs3127818 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5028 0.5 0.12 T 0.116 B 0.025 B 0.046 N 0.970 N 1.155 L 3.18 T -0.873 T 0.000 T 0.082 1.411 10.65 0.466 -0.022 0.187 5.824 1.410753 1.410753 0.15 NA NA ID=COSM1560780;OCCURENCE=1(large_intestine) 0.5 NA 7.8305334 869 6 38980081 38980081 A G exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon90:c.A13462G:p.I4488V exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon85:c.A12703G:p.I4235V,ENSG00000124721:ENST00000359357:exon88:c.A12811G:p.I4271V,ENSG00000124721:ENST00000327475:exon89:c.A13426G:p.I4476V NA NA 6p21.2 NA NA NA NA rs10484847 0.11 0.11 0.096 0.10643 0.1769 0.002 0.1225 0.1188 0.1135 0.17 0.0035 0.14 0.12 0.1458 0.18 0.31 T 0.0 B 0.001 B 0.114 N 1.000 P -0.51 N 3.13 T -0.906 T 0.003 T 0.074 0.743 7.94 2.45 0.187 0.402 1.940 0.742626 NA 0.65 0.180116 0.14571 NA 0.109 NA 7.8305174 869 7 21628197 21628197 A G exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon11:c.A1916G:p.Q639R exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000328843:exon11:c.A1916G:p.Q639R,ENSG00000105877:ENST00000409508:exon11:c.A1916G:p.Q639R NA NA 7p15.3 NA NA NA NA rs12670130 0.17 0.17 0.151 0.144968 0.1849 0.1865 0.111 0.1225 0.1155 0.17 0.22 0.13 0.13 0.149 0.22 1 T 0.0 B 0.001 B 0.352 N 1.000 P . . 0.75 T -1.009 T 0.000 T 0.053 -1.386 0.024 0.131 -0.123 2.237 9.802 -1.385524 NA 0.55 0.169423 0.12567 NA 0.232 NA 7.8300104 869 3 9970088 9970088 C T exonic IL17RC NA nonsynonymous SNV IL17RC:NM_001203265:exon10:c.C932T:p.A311V,IL17RC:NM_032732:exon10:c.C932T:p.A311V,IL17RC:NM_001203263:exon11:c.C977T:p.A326V,IL17RC:NM_001203264:exon11:c.C977T:p.A326V,IL17RC:NM_153460:exon11:c.C977T:p.A326V,IL17RC:NM_153461:exon11:c.C1190T:p.A397V exonic ENSG00000163702 NA nonsynonymous SNV ENSG00000163702:ENST00000416074:exon9:c.C545T:p.A182V,ENSG00000163702:ENST00000438091:exon9:c.C857T:p.A286V,ENSG00000163702:ENST00000383812:exon10:c.C932T:p.A311V,ENSG00000163702:ENST00000436503:exon10:c.C902T:p.A301V,ENSG00000163702:ENST00000455057:exon10:c.C932T:p.A311V,ENSG00000163702:ENST00000295981:exon11:c.C1190T:p.A397V,ENSG00000163702:ENST00000403601:exon11:c.C977T:p.A326V,ENSG00000163702:ENST00000413608:exon11:c.C977T:p.A326V NA NA 3p25.3 NA NA NA NA rs11719981 NA NA NA 0.000798722 NA 0.001 0.0014 NA 0.002 NA NA NA NA 0.0017 0.0017 0.79 T 0.462 P 0.023 B 0.617 N 1.000 N 0.035 N 2.49 T -0.978 T 0.011 T 0.282 -0.631 1.205 -0.082 0.140 0.280 3.667 -0.631326 NA 0.51 0.001746 0.000909 NA NA NA 7.8298874 869 19 1004710 1004710 C T exonic GRIN3B NA nonsynonymous SNV GRIN3B:NM_138690:exon3:c.C1210T:p.R404W exonic ENSG00000116032 NA nonsynonymous SNV ENSG00000116032:ENST00000234389:exon3:c.C1210T:p.R404W NA NA 19p13.3 NA NA NA NA rs4807399 0.35 0.35 0.369 0.361621 0.5199 0.0933 0.3573 0.3956 0.4325 0.52 0.07 0.42 0.36 0.466 0.52 0.18 T 0.033 B 0.003 B 0.003 N 1.000 P 1.095 L 2.72 T -0.902 T 0.000 T 0.073 -0.656 1.117 -3.29 -0.291 -1.671 1.740 -0.6564 NA 0.19 0.520173 0.398085 NA 0.399 NA 7.8272604 869 2 131414176 131414176 C T exonic POTEJ NA nonsynonymous SNV POTEJ:NM_001277083:exon15:c.C1843T:p.R615W exonic ENSG00000222038 NA nonsynonymous SNV ENSG00000222038:ENST00000409602:exon15:c.C1843T:p.R615W NA NA 2q21.1 NA NA NA NA rs62165276 NA NA 0.52 NA NA NA NA NA NA NA NA NA NA 0.5065 0.033 0 D . . . . . . 1.000 P 1.15 L 2.41 T -1.006 T 0.043 T 0.263 0.484 6.627 0.993 0.847 -0.120 7.879 0.484097 NA 0 NA NA NA 0.022 NA 7.8268334 869 21 34924243 34924243 T C exonic SON NA synonymous SNV SON:NM_032195:exon3:c.T2706C:p.D902D,SON:NM_138927:exon3:c.T2706C:p.D902D exonic ENSG00000159140 NA synonymous SNV ENSG00000159140:ENST00000290239:exon3:c.T2706C:p.D902D,ENSG00000159140:ENST00000300278:exon3:c.T2706C:p.D902D,ENSG00000159140:ENST00000356577:exon3:c.T2706C:p.D902D,ENSG00000159140:ENST00000381679:exon3:c.T2706C:p.D902D,ENSG00000159140:ENST00000455528:exon3:c.T2706C:p.D902D Score=628;Name=lod=477 NA 21q22.11 NA Name=Pol2-4H8 Name=3 NA rs16990760 0.2 0.2 0.186 0.180312 0.3101 0.1657 0.2435 0.0318 0.2178 0.3 0.15 0.27 0.05 0.2488 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431374 NA NA 0.281744 0.075579 ID=COSM1179794,COSM1179795;OCCURENCE=1(prostate) 0.08 NA 7.8260226 869 8 17928811 17928811 C T exonic ASAH1 NA nonsynonymous SNV ASAH1:NM_004315:exon3:c.G262A:p.V88M,ASAH1:NM_177924:exon3:c.G214A:p.V72M,ASAH1:NM_001127505:exon4:c.G283A:p.V95M exonic ENSG00000104763 NA nonsynonymous SNV ENSG00000104763:ENST00000262097:exon3:c.G214A:p.V72M,ENSG00000104763:ENST00000381733:exon3:c.G262A:p.V88M,ENSG00000104763:ENST00000417108:exon3:c.G19A:p.V7M,ENSG00000104763:ENST00000520781:exon3:c.G214A:p.V72M,ENSG00000104763:ENST00000314146:exon4:c.G283A:p.V95M NA NA 8p22 NA NA NA NA rs1071645 0.42 0.42 0.379 0.420527 0.4761 0.373 0.5735 0.2504 0.5337 0.47 0.36 0.6 0.3 0.5386 0.6 0.21 T 0.001 B 0.004 B 0.247 N 1.000 P -0.69 N 0.79 T -0.950 T 0.000 T 0.049 0.941 8.835 -3.27 -1.107 0.402 6.940 0.940822 NA 0.12 0.493372 0.289378 NA 0.348 NA 7.8252614 870 10 134218296 134218296 C G exonic PWWP2B NA nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.C292G:p.R98G,PWWP2B:NM_138499:exon2:c.C292G:p.R98G exonic ENSG00000171813 NA nonsynonymous SNV ENSG00000171813:ENST00000305233:exon2:c.C292G:p.R98G,ENSG00000171813:ENST00000368609:exon2:c.C292G:p.R98G NA NA 10q26.3 NA NA NA NA rs10747057 0.57 0.57 0.605 0.592452 0.4563 0.6954 0.5461 0.7065 0.5051 0.44 0.69 0.49 0.68 0.551 0.73 0.38 T 0.0 B 0.0 B 0.165 N 1.000 P -0.55 N 1.56 T -0.936 T 0.000 T 0.025 -1.328 0.032 2.77 0.744 -1.230 1.739 -1.327586 NA 0.38 0.501659 0.725077 NA 0.246 NA 7.8243744 870 19 9070837 9070837 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C16609T:p.P5537S exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C16609T:p.P5537S NA NA 19p13.2 NA NA NA NA rs2547067 0.82 0.82 0.82 0.819688 0.827 0.8512 0.8718 0.7549 0.8303 0.83 0.88 0.87 0.72 0.8296 0.88 0 D 0.0 B 0.0 B . . . . -0.975 N 4.04 T -1.054 T 0.000 T 0.037 -0.244 2.826 -2.0 -1.245 0.099 3.611 -0.243731 NA 0.16 0.85326 0.783114 NA 0.79 NA 7.8234734 870 10 82369219 82369219 T A exonic SH2D4B NA nonsynonymous SNV SH2D4B:NM_001145719:exon6:c.T753A:p.D251E,SH2D4B:NM_207372:exon6:c.T897A:p.D299E exonic ENSG00000178217 NA nonsynonymous SNV ENSG00000178217:ENST00000313455:exon6:c.T753A:p.D251E,ENSG00000178217:ENST00000339284:exon6:c.T897A:p.D299E,ENSG00000178217:ENST00000470604:exon6:c.T894A:p.D298E NA NA 10q23.1 NA NA NA NA rs17107368 0.19 0.19 0.196 0.14996 0.171 0.3442 0.1239 0.0242 0.1166 0.18 0.38 0.12 0.04 0.1691 0.38 1 T 0.001 B 0.002 B 0.079 N 0.201 P -1.275 N 3.12 T -1.003 T 0.000 T 0.036 0.116 4.624 -6.92 -0.527 -0.914 1.448 0.11602 NA 1 0.170116 0.053336 NA 0.181 NA 7.8231174 870 6 126210395 126210395 T G exonic NCOA7 NA nonsynonymous SNV NCOA7:NM_001199621:exon8:c.T850G:p.S284A,NCOA7:NM_001122842:exon9:c.T1162G:p.S388A,NCOA7:NM_181782:exon9:c.T1195G:p.S399A,NCOA7:NM_001199619:exon10:c.T1195G:p.S399A,NCOA7:NM_001199620:exon11:c.T1195G:p.S399A exonic ENSG00000111912 NA nonsynonymous SNV ENSG00000111912:ENST00000413085:exon3:c.T589G:p.S197A,ENSG00000111912:ENST00000229634:exon8:c.T850G:p.S284A,ENSG00000111912:ENST00000392477:exon9:c.T1195G:p.S399A,ENSG00000111912:ENST00000368357:exon10:c.T1195G:p.S399A NA NA 6q22.32 NA NA NA NA rs6919947 0.52 0.52 0.514 0.478435 0.5189 0.5903 0.4899 0.4024 0.4162 0.52 0.62 0.51 0.4 0.488 0.62 1 T 0.0 B 0.0 B 0.054 N 1.000 P -0.695 N 2.81 T -1.069 T 0.005 T 0.129 -2.155 0.005 -7.76 -2.239 -0.657 3.829 -2.154608 NA 0.01 0.503372 0.430095 NA 0.601 NA 7.8230614 870 19 53612757 53612757 T G exonic ZNF415 NA nonsynonymous SNV ZNF415:NM_001136038:exon4:c.A541C:p.I181L,ZNF415:NM_001164309:exon4:c.A541C:p.I181L,ZNF415:NM_018355:exon4:c.A541C:p.I181L exonic ENSG00000170954 NA nonsynonymous SNV ENSG00000170954:ENST00000243643:exon4:c.A541C:p.I181L,ENSG00000170954:ENST00000500065:exon4:c.A541C:p.I181L,ENSG00000170954:ENST00000421033:exon5:c.A577C:p.I193L,ENSG00000170954:ENST00000440291:exon5:c.A502C:p.I168L,ENSG00000170954:ENST00000448501:exon6:c.A685C:p.I229L,ENSG00000170954:ENST00000455735:exon7:c.A685C:p.I229L NA NA 19q13.42 NA NA NA NA rs1054485 0.55 0.55 0.54 0.544928 0.497 0.6131 0.647 0.4856 0.5317 0.5 0.6 0.65 0.51 0.5247 0.65 0.07 T 0.929 P 0.729 P . . 1.000 P 2.235 M 3.34 T -0.972 T 0.000 T 0.107 1.622 11.38 -0.885 -0.431 0.170 2.620 1.621813 1.621813 0.11 0.48907 0.502951 NA 0.543 NA 7.8225634 870 7 99704892 99704892 C T exonic TAF6 NA nonsynonymous SNV TAF6:NM_001190415:exon15:c.G2122A:p.G708S,TAF6:NM_005641:exon15:c.G2011A:p.G671S,TAF6:NM_139315:exon15:c.G2011A:p.G671S exonic ENSG00000106290 NA nonsynonymous SNV ENSG00000106290:ENST00000418432:exon14:c.G1783A:p.G595S,ENSG00000106290:ENST00000472509:exon14:c.G2182A:p.G728S,ENSG00000106290:ENST00000344095:exon15:c.G2011A:p.G671S,ENSG00000106290:ENST00000437822:exon15:c.G2122A:p.G708S,ENSG00000106290:ENST00000452041:exon15:c.G2011A:p.G671S,ENSG00000106290:ENST00000453269:exon15:c.G2011A:p.G671S NA NA 7q22.1 NA NA NA NA rs146348021 0.0014 0.0014 NA 0.00139776 0.003 NA 0.0058 NA NA NA NA 0.01 NA 0.0036 0.01 0.83 T 0.6 P 0.208 B 0.006 N 0.867 N 0 N 0.93 T -1.004 T 0.028 T 0.279 2.498 14.31 1.01 0.310 -0.099 6.766 2.498076 2.498076 0.3 0.005139 0.000459 NA NA NA 7.8215944 870 10 134218287 134218287 G A exonic PWWP2B NA nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.G283A:p.E95K,PWWP2B:NM_138499:exon2:c.G283A:p.E95K exonic ENSG00000171813 NA nonsynonymous SNV ENSG00000171813:ENST00000305233:exon2:c.G283A:p.E95K,ENSG00000171813:ENST00000368609:exon2:c.G283A:p.E95K NA NA 10q26.3 NA NA NA NA rs199872085 0.0037 0.0037 NA 0.00139776 0.003 NA 0.0029 0.0008 0.001 0.01 NA 0.0028 0.01 0.0048 0.01 0.5 T 0.892 P 0.163 B 0.265 N 1.000 N -0.14 N 1.55 T -1.055 T 0.043 T 0.025 1.615 11.36 -0.469 -0.240 0.286 6.863 1.614637 1.614637 0.39 0.004903 0.000744 NA NA NA 7.8206304 870 6 33659472 33659472 C G exonic ITPR3 NA nonsynonymous SNV ITPR3:NM_002224:exon53:c.C7306G:p.L2436V exonic ENSG00000096433 NA nonsynonymous SNV ENSG00000096433:ENST00000605930:exon53:c.C7306G:p.L2436V,ENSG00000096433:ENST00000374316:exon54:c.C7306G:p.L2436V NA NA 6p21.31 NA NA NA NA rs2229642 0.56 0.56 0.495 0.579673 0.4851 0.8998 0.6138 0.2156 0.8149 0.49 0.88 0.62 0.24 0.5678 0.88 0.35 T 0.0 B 0.002 B 0.989 N 1.000 P 0.345 N -2.84 D -0.954 T 0.254 T 0.063 -1.54 0.015 2.02 0.331 0.566 3.562 -1.540438 NA 0.65 0.46 0.307762 NA 0.536 NA 7.8204334 870 12 112375990 112375990 A C exonic TMEM116 NA nonsynonymous SNV TMEM116:NM_001193453:exon5:c.T235G:p.C79G,TMEM116:NM_138341:exon5:c.T64G:p.C22G,TMEM116:NM_001193531:exon6:c.T340G:p.C114G exonic ENSG00000198270 NA nonsynonymous SNV ENSG00000198270:ENST00000355445:exon5:c.T235G:p.C79G,ENSG00000198270:ENST00000550831:exon5:c.T64G:p.C22G,ENSG00000198270:ENST00000437003:exon6:c.T64G:p.C22G,ENSG00000198270:ENST00000550037:exon6:c.T340G:p.C114G,ENSG00000198270:ENST00000550800:exon6:c.T64G:p.C22G,ENSG00000198270:ENST00000552374:exon6:c.T340G:p.C114G,ENSG00000198270:ENST00000354825:exon8:c.T64G:p.C22G NA NA 12q24.13 NA NA NA NA rs3752630 0.22 0.22 0.227 0.22484 0.165 0.2728 0.1383 0.3116 0.181 0.16 0.27 0.16 0.32 0.1842 0.32 1 T 0.0 B 0.0 B 0.001 N 0.000 P -1.735 N 1.13 T -0.960 T 0.000 T 0.126 0.999 9.079 3.84 0.363 0.422 5.684 0.998886 NA 0.59 0.165 0.277803 NA 0.268 NA 7.8191334 870 1 152286032 152286032 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G1330A:p.G444R exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G1330A:p.G444R NA NA 1q21.3 NA NA NA NA rs11588170 0.26 0.26 0.211 0.287141 0.1421 0.5823 0.3905 0.0113 0.4315 0.15 0.58 0.33 0.02 0.2287 0.58 0.57 T 0.942 P 0.816 P . . 1.000 P 1.685 L 5.72 T -0.906 T 0.002 T 0.032 1.119 9.564 -0.615 -0.107 -0.639 3.006 1.119273 NA 0.23 0.144302 0.036541 NA 0.174 NA 7.8182314 870 7 22533452 22533452 C T exonic STEAP1B NA nonsynonymous SNV STEAP1B:NM_001164460:exon3:c.G88A:p.E30K exonic ENSG00000105889 NA nonsynonymous SNV ENSG00000105889:ENST00000404369:exon3:c.G88A:p.E30K,ENSG00000105889:ENST00000439708:exon3:c.G88A:p.E30K,ENSG00000105889:ENST00000424363:exon4:c.G88A:p.E30K Score=399;Name=lod=56 NA 7p15.3 NA NA NA NA rs6966841 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA 0.5171 0.55 . . 0.0 B 0.001 B . . 1.000 P -1.745 N 3.11 T -0.942 T 0.006 T 0.219 -0.973 0.303 1.06 -0.052 0.614 3.196 -0.972578 NA 1 NA NA NA 0.5 NA 7.8162334 870 18 56936395 56936395 T C exonic RAX NA synonymous SNV RAX:NM_013435:exon3:c.A882G:p.Q294Q exonic ENSG00000134438 NA synonymous SNV ENSG00000134438:ENST00000334889:exon3:c.A882G:p.Q294Q Score=581;Name=lod=305 NA 18q21.32 NA Name=Rad21,CTCF Name=37 NA rs7226481 0.23 0.23 0.187 0.228235 0.3032 0.129 0.1671 0.2421 0.2781 0.31 0.15 0.2 0.25 0.3229 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759359 NA NA 0.224408 0.182687 ID=COSM438275;OCCURENCE=1(breast) 0.051 NA 7.8161586 870 2 120439230 120439230 C G exonic TMEM177 NA nonsynonymous SNV TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E exonic ENSG00000144120 NA nonsynonymous SNV ENSG00000144120:ENST00000272521:exon2:c.C801G:p.D267E,ENSG00000144120:ENST00000401466:exon2:c.C801G:p.D267E,ENSG00000144120:ENST00000424086:exon2:c.C801G:p.D267E NA NA 2q14.2 NA NA NA NA rs1983406 0.78 0.78 0.76 0.778155 0.8439 0.8284 0.8285 0.6029 0.8599 0.85 0.81 0.8 0.61 0.83 0.85 1 T 0.0 B 0.0 B 0.841 N 0.003 P -0.55 N 1.07 T -1.054 T 0.000 T 0.007 -3.05 0.001 -9.21 -5.322 -1.924 3.875 -3.050185 NA 0.81 0.843837 0.629142 NA 0.826 NA 7.8155964 871 19 54849942 54849942 G A exonic LILRA4 NA nonsynonymous SNV LILRA4:NM_012276:exon3:c.C80T:p.P27L exonic ENSG00000239961 NA nonsynonymous SNV ENSG00000239961:ENST00000291759:exon3:c.C80T:p.P27L NA NA 19q13.42 NA NA NA NA rs2241384 0.19 0.19 0.179 0.197684 0.169 0.2679 0.2133 0.1566 0.1994 0.17 0.24 0.21 0.16 0.1853 0.24 0.1 T 0.048 B 0.063 B 0.072 N 1.000 P 2.485 M 2.58 T -1.035 T 0.000 T 0.021 0.412 6.236 -1.05 -0.466 0.493 4.773 0.411693 NA 0.08 0.165233 0.159101 NA 0.217 NA 7.8138004 871 12 10251445 10251445 C G exonic CLEC1A NA nonsynonymous SNV CLEC1A:NM_016511:exon1:c.G77C:p.G26A exonic ENSG00000150048 NA nonsynonymous SNV ENSG00000150048:ENST00000315330:exon1:c.G77C:p.G26A,ENSG00000150048:ENST00000420265:exon1:c.G77C:p.G26A,ENSG00000150048:ENST00000457018:exon1:c.G77C:p.G26A,ENSG00000150048:ENST00000544104:exon1:c.G77C:p.G26A,ENSG00000150048:ENST00000414501:exon2:c.G77C:p.G26A NA NA 12p13.2 NA Name=TAF1,Pol2 NA NA rs2306894 0.7 0.7 0.72 0.670527 0.8728 0.3502 0.6009 0.8918 0.5429 0.88 0.33 0.66 0.87 0.7679 0.9 0.83 T 0.0 B 0.0 B 0.035 N 1.000 P -1.23 N 5.49 T -0.981 T 0.000 T 0.159 -0.54 1.549 4.66 0.715 0.958 7.889 -0.539636 NA 0.81 0.87907 0.899001 ID=COSM147434;OCCURENCE=1(stomach),1(large_intestine) 0.812 NA 7.8135634 871 1 176863836 176863836 G C exonic ASTN1 NA nonsynonymous SNV ASTN1:NM_004319:exon17:c.C2802G:p.H934Q,ASTN1:NM_207108:exon17:c.C2802G:p.H934Q exonic ENSG00000152092 NA nonsynonymous SNV ENSG00000152092:ENST00000361833:exon17:c.C2802G:p.H934Q,ENSG00000152092:ENST00000367654:exon17:c.C2826G:p.H942Q,ENSG00000152092:ENST00000367657:exon17:c.C2802G:p.H934Q,ENSG00000152092:ENST00000424564:exon17:c.C2802G:p.H934Q Score=530;Name=lod=190 NA 1q25.2 Score=853;Name=V$P300_01 NA NA NA rs2281180 0.83 0.83 0.817 0.829273 0.8588 0.8006 0.7233 0.8601 0.862 0.85 0.81 0.78 0.86 0.8282 0.87 0.76 T 0.0 B 0.0 B 0.001 N 1.000 P -0.895 N 1.66 T -1.012 T 0.000 T 0.142 -0.173 3.159 2.28 0.308 0.771 3.169 -0.172549 NA 0.83 0.835116 0.874035 NA 0.884 NA 7.8112174 871 18 6912143 6912143 A C exonic ARHGAP28 NA nonsynonymous SNV ARHGAP28:NM_001010000:exon17:c.A1703C:p.Q568P exonic ENSG00000088756 NA nonsynonymous SNV ENSG00000088756:ENST00000314319:exon16:c.A1703C:p.Q568P,ENSG00000088756:ENST00000419673:exon17:c.A1703C:p.Q568P,ENSG00000088756:ENST00000531294:exon17:c.A1688C:p.Q563P,ENSG00000088756:ENST00000383472:exon18:c.A2180C:p.Q727P Score=272;Name=lod=17 NA 18p11.31 NA NA NA NA rs1056408 0.78 0.78 0.784 0.729233 0.8678 0.627 0.7233 0.7716 0.6391 0.87 0.7 0.76 0.76 0.7949 0.87 1 T 0.0 B 0.0 B . . 0.424 P -0.75 N 3.23 T -0.999 T 0.000 T 0.095 -0.509 1.671 4.06 0.394 1.172 8.883 -0.509013 NA NA 0.859535 0.789832 NA 0.703 NA 7.8110984 871 6 41038845 41038845 C T intronic OARD1 NA NA NA exonic ENSG00000124596 NA stopgain ENSG00000124596:ENST00000469104:exon3:c.G210A:p.W70X,ENSG00000124596:ENST00000471367:exon3:c.G210A:p.W70X NA NA 6p21.1 NA NA NA NA rs13191323 0.28 0.28 0.301 0.321685 0.1869 0.2728 0.281 0.5023 0.2955 0.19 0.27 0.27 0.46 0.2724 0.46 0.11 T . . . . . . 0.000 P . . . . . . . . . 2.289 13.61 -6.96 -0.901 -1.452 5.168 2.289278 2.289278 NA 0.231047 0.449841 NA 0.254 NA 7.809653 871 11 66033430 66033430 C T exonic KLC2 NA nonsynonymous SNV KLC2:NM_001134774:exon12:c.C1318T:p.P440S,KLC2:NM_001134775:exon13:c.C1549T:p.P517S,KLC2:NM_001134776:exon13:c.C1549T:p.P517S,KLC2:NM_022822:exon13:c.C1549T:p.P517S exonic ENSG00000174996 NA nonsynonymous SNV ENSG00000174996:ENST00000394065:exon11:c.C1132T:p.P378S,ENSG00000174996:ENST00000394066:exon11:c.C1318T:p.P440S,ENSG00000174996:ENST00000421552:exon12:c.C1318T:p.P440S,ENSG00000174996:ENST00000316924:exon13:c.C1549T:p.P517S,ENSG00000174996:ENST00000394067:exon13:c.C1549T:p.P517S,ENSG00000174996:ENST00000417856:exon13:c.C1549T:p.P517S Score=333;Name=lod=30 NA 11q13.2 NA NA NA NA rs2276036 0.19 0.19 0.16 0.19369 0.173 0.2887 0.1268 0.1823 0.18 0.18 0.28 0.14 0.16 0.179 0.28 0.48 T 0.0 B 0.001 B 0.309 N 0.000 P 0.895 L -0.94 T -1.103 T 0.000 T 0.097 0.101 4.543 0.365 0.241 -0.074 7.779 0.100733 NA 0.42 0.173346 0.173339 NA 0.203 NA 7.8079874 871 22 42537630 42537630 C G ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN NA NA 22q13.2 NA NA NA NA rs139038830 0.01 0.01 0.005 0.0111821 0.008 NA 0.0101 0.0189 0.0164 0.01 NA 0.01 0.02 0.0187 0.02 0.76 T 0.0 B 0.001 B 0.479 N 1.000 N . . . . -0.993 T 0.024 T . -1.857 0.009 -4.14 -0.695 -2.039 12.151 -1.856993 NA 1 NA NA NA NA NA 7.8066333 871 2 169721377 169721377 G A exonic NOSTRIN NA nonsynonymous SNV NOSTRIN:NM_001171632:exon15:c.G1334A:p.G445E,NOSTRIN:NM_052946:exon15:c.G1184A:p.G395E,NOSTRIN:NM_001039724:exon16:c.G1418A:p.G473E,NOSTRIN:NM_001171631:exon21:c.G1589A:p.G530E exonic ENSG00000163072 NA nonsynonymous SNV ENSG00000163072:ENST00000397206:exon15:c.G1184A:p.G395E,ENSG00000163072:ENST00000397209:exon15:c.G1334A:p.G445E,ENSG00000163072:ENST00000421711:exon15:c.G1334A:p.G445E,ENSG00000163072:ENST00000445023:exon15:c.G1184A:p.G395E,ENSG00000163072:ENST00000317647:exon16:c.G1418A:p.G473E,ENSG00000163072:ENST00000444448:exon19:c.G1589A:p.G530E,ENSG00000163072:ENST00000458381:exon21:c.G1589A:p.G530E Score=534;Name=lod=198 NA 2q31.1 NA NA NA NA rs479661 0.89 0.89 0.898 0.907149 0.832 0.9395 0.8098 0.9629 0.9448 0.84 0.93 0.82 0.97 0.8639 0.97 0.77 T 0.0 B 0.001 B 0.021 N 0.000 P 0.255 N 1.64 T -0.965 T 0.000 T 0.152 0.255 5.378 4.96 0.834 2.153 8.843 0.255043 NA 1 0.831142 0.945099 NA 0.812 NA 7.8062914 872 14 64519455 64519455 A G exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon48:c.A8824G:p.I2942V,SYNE2:NM_182914:exon48:c.A8824G:p.I2942V exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000344113:exon48:c.A8824G:p.I2942V,ENSG00000054654:ENST00000358025:exon48:c.A8824G:p.I2942V,ENSG00000054654:ENST00000554584:exon48:c.A8923G:p.I2975V NA NA 14q23.2 NA NA NA NA rs3829767 0.71 0.71 0.679 0.665136 0.8628 0.7778 0.7882 0.3026 0.7485 0.86 0.81 0.78 0.33 0.8031 0.86 0.3 T 0.002 B 0.005 B 0.617 N 0.999 P 0.805 L 0.39 T -0.956 T 0.000 T 0.043 -0.604 1.305 -7.86 -1.044 -0.842 0.480 -0.603679 NA 0.05 0.86367 0.413219 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118556.1;CLNDSDB=.;CLNDSDBID=. 7.8037634 872 1 207851611 207851611 A G exonic CR1L NA nonsynonymous SNV CR1L:NM_175710:exon3:c.A346G:p.R116G exonic ENSG00000197721 NA nonsynonymous SNV ENSG00000197721:ENST00000294997:exon2:c.A178G:p.R60G,ENSG00000197721:ENST00000508064:exon3:c.A346G:p.R116G NA NA 1q32.2 NA NA NA NA rs2296158 0.52 0.52 0.486 0.526558 0.492 0.6984 0.379 0.4493 0.5941 0.5 0.65 0.41 0.47 0.5171 0.65 1 T 0.0 B 0.0 B . . 1.000 P -2.82 N 0.43 T -0.921 T 0.000 T 0.057 -0.892 0.455 2.73 0.466 2.122 5.862 -0.892119 NA 1 0.522303 0.478967 NA 0.384 NA 7.8019304 872 2 227954599 227954599 G A exonic COL4A4 NA nonsynonymous SNV COL4A4:NM_000092:exon21:c.C1444T:p.P482S exonic ENSG00000081052 NA nonsynonymous SNV ENSG00000081052:ENST00000329662:exon21:c.C1444T:p.P482S,ENSG00000081052:ENST00000396625:exon21:c.C1444T:p.P482S NA NA 2q36.3 NA NA NA NA rs2229814 0.52 0.52 0.51 0.548522 0.498 0.5198 0.6081 0.5113 0.638 0.51 0.5 0.59 0.5 0.5344 0.59 0.72 T 0.0 B 0.0 B . . 1.000 P 2.49 M -2.53 D -0.903 T 0.000 T 0.037 -1.126 0.121 0.339 0.089 0.624 1.222 -1.125898 NA 0.44 0.501707 0.525093 NA 0.486 NA 7.7992264 872 13 25876011 25876011 G A exonic NUPL1 NA nonsynonymous SNV NUPL1:NM_001008564:exon1:c.G100A:p.A34T,NUPL1:NM_014089:exon1:c.G100A:p.A34T exonic ENSG00000139496 NA nonsynonymous SNV ENSG00000139496:ENST00000381718:exon1:c.G100A:p.A34T,ENSG00000139496:ENST00000381736:exon1:c.G100A:p.A34T,ENSG00000139496:ENST00000381747:exon1:c.G100A:p.A34T,ENSG00000139496:ENST00000463407:exon1:c.G100A:p.A34T,ENSG00000139496:ENST00000465068:exon1:c.G100A:p.A34T,ENSG00000139496:ENST00000481980:exon1:c.G100A:p.A34T,ENSG00000139496:ENST00000490231:exon1:c.G100A:p.A34T NA NA 13q12.13 NA Name=GABP,Pol2,E2F6,Pol2(b),Egr-1,HA-E2F1 Name=31 NA rs11556093 0.41 0.41 0.383 0.367212 0.5089 0.5585 0.3646 0.0688 0.4294 0.51 0.57 0.39 0.07 0.494 0.57 1 T 0.001 B 0.001 B 0.045 N 0.153 P 0.35 N 1.45 T -0.926 T 0.000 T 0.244 0.535 6.899 -0.146 0.069 -0.185 3.944 0.535406 NA 0.22 0.531519 0.138448 NA 0.37 NA 7.7989144 872 1 86952324 86952324 A G exonic CLCA1 NA nonsynonymous SNV CLCA1:NM_001285:exon7:c.A1070G:p.N357S exonic ENSG00000016490 NA nonsynonymous SNV ENSG00000016490:ENST00000394711:exon7:c.A1070G:p.N357S,ENSG00000016490:ENST00000234701:exon8:c.A1070G:p.N357S Score=300;Name=lod=22 NA 1p22.3 NA NA NA NA rs2734705 0.87 0.87 0.865 0.886981 0.835 0.8472 0.9078 0.9425 0.8916 0.83 0.88 0.88 0.91 0.8629 0.93 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.525 N 2.78 T -0.912 T 0.003 T 0.015 -0.26 2.753 4.58 1.336 0.527 2.310 -0.259698 NA 0.63 0.836744 0.932365 NA 0.855 NA 7.7986894 872 14 64522843 64522843 A G exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon49:c.A9926G:p.H3309R,SYNE2:NM_182914:exon49:c.A9926G:p.H3309R exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000344113:exon49:c.A9926G:p.H3309R,ENSG00000054654:ENST00000358025:exon49:c.A9926G:p.H3309R,ENSG00000054654:ENST00000554584:exon49:c.A10025G:p.H3342R NA NA 14q23.2 NA NA NA NA rs8010699 0.73 0.73 0.706 0.682308 0.8638 0.7778 0.7968 0.3623 0.7485 0.86 0.81 0.79 0.39 0.8074 0.86 0.35 T 0.039 B 0.043 B 0.043 N 0.993 P 0 N 1.4 T -1.049 T 0.000 T 0.052 -0.146 3.287 3.4 0.440 1.102 7.513 -0.145706 NA 0.05 0.863988 0.479328 NA 0.696 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118561.1;CLNDSDB=.;CLNDSDBID=. 7.7981454 872 1 10318652 10318652 C G exonic KIF1B NA synonymous SNV KIF1B:NM_015074:exon4:c.C285G:p.A95A,KIF1B:NM_183416:exon4:c.C285G:p.A95A exonic ENSG00000054523 NA synonymous SNV ENSG00000054523:ENST00000377081:exon3:c.C285G:p.A95A,ENSG00000054523:ENST00000263934:exon4:c.C285G:p.A95A,ENSG00000054523:ENST00000377083:exon4:c.C285G:p.A95A,ENSG00000054523:ENST00000377086:exon4:c.C285G:p.A95A,ENSG00000054523:ENST00000377093:exon4:c.C285G:p.A95A Score=663;Name=lod=661 NA 1p36.22 Score=785;Name=V$OCT1_01 NA NA NA rs12402052 0.26 0.26 0.22 0.230032 0.3052 0.2887 0.3199 0.056 0.2638 0.31 0.31 0.35 0.06 0.2689 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168974 NA NA 0.29686 0.091466 ID=COSM146389,COSM146390;OCCURENCE=1(stomach) 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117406.2;CLNDSDB=.;CLNDSDBID=. 7.7957066 872 19 44351694 44351694 C T exonic ZNF283 NA nonsynonymous SNV ZNF283:NM_181845:exon7:c.C941T:p.T314I exonic ENSG00000167637 NA nonsynonymous SNV ENSG00000167637:ENST00000588797:exon6:c.C524T:p.T175I,ENSG00000167637:ENST00000324461:exon7:c.C941T:p.T314I Score=468;Name=lod=106 NA 19q13.31 NA Name=SETDB1,ZNF274,KAP1 Name=6 NA rs2195980 0.79 0.79 0.818 0.802915 0.8638 0.5982 0.6513 0.9592 0.8476 0.87 0.59 0.7 0.96 0.817 0.96 0.08 T 0.0 B 0.002 B . . 0.000 P 1.78 L 1.78 T -1.063 T 0.000 T 0.071 1.141 9.647 1.97 0.380 0.064 4.910 1.140523 NA 0.12 0.85751 0.947053 NA 0.848 NA 7.7950234 873 7 138732497 138732497 G A exonic ZC3HAV1 NA nonsynonymous SNV ZC3HAV1:NM_020119:exon13:c.C2552T:p.T851I exonic ENSG00000105939 NA nonsynonymous SNV ENSG00000105939:ENST00000242351:exon13:c.C2552T:p.T851I,ENSG00000105939:ENST00000464606:exon13:c.C2918T:p.T973I NA NA 7q34 NA NA NA NA rs3735007 0.5 0.5 0.534 0.53135 0.5149 0.3611 0.3775 0.7141 0.5859 0.5 0.37 0.42 0.73 0.5057 0.73 0.76 T 0.0 B 0.001 B 0.778 N 1.000 P 0.6 N 2.51 T -0.976 T 0.000 T 0.02 -0.837 0.581 -5.97 -1.518 -0.368 17.269 -0.836941 NA 0.64 0.518605 0.702905 NA 0.5 NA 7.7941284 873 10 129903016 129903016 T C exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.A6008G:p.N2003S,MKI67:NM_002417:exon13:c.A7088G:p.N2363S exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.A6008G:p.N2003S,ENSG00000148773:ENST00000368654:exon13:c.A7088G:p.N2363S NA NA 10q26.2 NA NA NA NA rs7071768 0.48 0.48 0.44 0.463658 0.5219 0.381 0.6095 0.4607 0.3896 0.52 0.41 0.58 0.4 0.4972 0.58 0.93 T 0.0 B 0.0 B 0.000 N 1.000 P -1.39 N 4.72 T -0.936 T 0.000 T 0.004 -0.973 0.302 -5.36 -1.763 -0.572 9.392 -0.973252 NA 0.77 0.520233 0.459601 NA 0.435 NA 7.7940004 873 17 72938100 72938100 T C exonic OTOP3 NA nonsynonymous SNV OTOP3:NM_001272005:exon3:c.T541C:p.S181P,OTOP3:NM_178233:exon3:c.T595C:p.S199P exonic ENSG00000182938 NA nonsynonymous SNV ENSG00000182938:ENST00000328801:exon3:c.T595C:p.S199P Score=300;Name=lod=22 NA 17q25.1 NA NA NA NA rs1542752 0.92 0.92 0.923 0.90615 0.8429 0.9603 0.9035 0.9546 0.8517 0.86 0.96 0.88 0.96 0.866 0.96 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.045 N 3.47 T -1.015 T 0.000 T 0.084 -1.019 0.234 3.65 0.738 2.160 7.134 -1.018675 NA 1 0.83093 0.936904 NA 0.935 NA 7.7935034 873 3 88189341 88189341 T C exonic ZNF654 NA nonsynonymous SNV ZNF654:NM_018293:exon1:c.T881C:p.I294T exonic ENSG00000175105 NA nonsynonymous SNV ENSG00000175105:ENST00000309495:exon1:c.T881C:p.I294T Score=592;Name=lod=341 NA 3p11.1 NA NA NA NA rs7653652 0.79 0.79 0.768 0.783147 0.8429 0.8363 0.8516 0.5696 0.907 0.83 0.86 0.87 0.59 0.8426 0.87 0.42 T 0.039 B 0.016 B 0.488 N 0.000 P 0.895 L 1.33 T -0.966 T 0.000 T 0.109 0.248 5.34 4.73 2.248 0.909 7.981 0.248031 NA 0.41 0.855302 0.636895 NA 0.674 NA 7.7925314 873 1 28209362 28209362 T C exonic THEMIS2 NA synonymous SNV THEMIS2:NM_001105556:exon4:c.T1527C:p.V509V exonic ENSG00000130775 NA synonymous SNV ENSG00000130775:ENST00000373921:exon4:c.T1527C:p.V509V,ENSG00000130775:ENST00000328928:exon5:c.T1140C:p.V380V NA NA 1p35.3 NA NA NA NA rs3766399 0.47 0.47 0.43 0.474441 0.6322 0.504 0.5086 0.1566 0.6871 0.63 0.49 0.53 0.18 0.5908 0.65 . . . . . . . . 0.000 P . . . . -1.089 T 0.000 T . -1.185 0.08 -9.96 -2.370 -3.595 11.876 -1.185382 NA NA 0.651403 0.264865 NA 0.442 NA 7.7922636 873 3 57494138 57494138 A C exonic DNAH12 NA nonsynonymous SNV DNAH12:NM_178504:exon7:c.T672G:p.D224E,DNAH12:NM_198564:exon7:c.T672G:p.D224E exonic ENSG00000174844 NA nonsynonymous SNV ENSG00000174844:ENST00000311202:exon7:c.T672G:p.D224E,ENSG00000174844:ENST00000351747:exon7:c.T672G:p.D224E,ENSG00000174844:ENST00000389536:exon7:c.T672G:p.D224E,ENSG00000174844:ENST00000495027:exon7:c.T672G:p.D224E NA NA 3p14.3 NA NA Name=3 NA rs6445902 0.21 0.21 0.231 0.235623 0.164 0.0813 0.1556 0.4947 0.1748 0.16 0.07 0.14 0.51 0.187 0.51 0.41 T 0.452 B 0.076 B 0.091 N 1.000 P 0.69 N 3.6 T -0.927 T 0.000 T 0.031 1.002 9.093 -0.563 -0.003 0.339 2.309 1.002223 NA 0.41 0.190321 0.470495 NA 0.326 NA 7.7920124 873 6 43418691 43418691 G A exonic DLK2 NA synonymous SNV DLK2:NM_023932:exon6:c.C738T:p.T246T,DLK2:NM_206539:exon6:c.C738T:p.T246T exonic ENSG00000171462 NA synonymous SNV ENSG00000171462:ENST00000357338:exon6:c.C738T:p.T246T,ENSG00000171462:ENST00000372485:exon6:c.C720T:p.T240T,ENSG00000171462:ENST00000372488:exon6:c.C738T:p.T246T,ENSG00000171462:ENST00000414245:exon6:c.C720T:p.T240T Score=470;Name=lod=108 NA 6p21.1 NA NA NA NA rs1214748 0.26 0.26 0.273 0.278954 0.2863 0.0804 0.2147 0.5424 0.1656 0.27 0.07 0.22 0.5 0.2776 0.5 . . . . . . . . 0.000 P . . . . -1.007 T 0.029 T . 0.745 7.951 -2.45 -0.280 -0.388 4.767 0.744851 NA NA 0.310814 0.501589 NA 0.312 NA 7.7919526 873 6 26108282 26108282 C G exonic HIST1H1T NA nonsynonymous SNV HIST1H1T:NM_005323:exon1:c.G40C:p.V14L exonic ENSG00000187475 NA nonsynonymous SNV ENSG00000187475:ENST00000338379:exon1:c.G40C:p.V14L NA NA 6p22.2 NA Name=TBP NA NA rs198844 0.4 0.4 0.406 0.407947 0.5258 0.2996 0.4207 0.3631 0.4499 0.54 0.23 0.43 0.34 0.4867 0.54 0.21 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N 2.77 T -0.902 T 0.004 T 0.06 0.263 5.42 -0.586 -0.605 -1.327 6.682 0.262709 NA 0.48 0.529535 0.393327 NA 0.413 NA 7.7912984 873 20 1559101 1559101 T G exonic SIRPB1 NA nonsynonymous SNV SIRPB1:NM_001083910:exon2:c.A316C:p.S106R,SIRPB1:NM_006065:exon2:c.A316C:p.S106R exonic ENSG00000101307,ENSG00000260861 NA nonsynonymous SNV ENSG00000101307:ENST00000262929:exon2:c.A313C:p.S105R,ENSG00000101307:ENST00000381603:exon2:c.A316C:p.S106R,ENSG00000101307:ENST00000381605:exon2:c.A316C:p.S106R,ENSG00000101307:ENST00000563840:exon2:c.A313C:p.S105R,ENSG00000260861:ENST00000564763:exon2:c.A316C:p.S106R,ENSG00000260861:ENST00000567028:exon2:c.A313C:p.S105R Score=289;Name=lod=20 NA 20p13 NA NA NA NA rs41275422 0.27 0.27 0.235 0.307708 0.1551 0.6409 0.1787 0.1089 0.4816 0.15 0.62 0.18 0.14 0.235 0.62 1 T 0.0 B 0.011 B 0.003 N 0.000 P -1.475 N -0.11 T -0.927 T 0.000 T 0.192 -2.228 0.005 1.22 0.340 0.159 6.270 -2.227881 NA 1 0.153421 0.099181 NA 0.196 NA 7.7898124 873 21 47836571 47836571 C T exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon30:c.C6739T:p.H2247Y exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon30:c.C6739T:p.H2247Y NA NA 21q22.3 NA NA NA NA rs61735812 0.02 0.02 0.01 0.0139776 0.0209 NA 0.0173 0.025 0.0041 0.02 NA 0.02 0.03 0.0123 0.03 1 T 0.78 P 0.145 B 0.900 N 1.000 N 1.1 L 4.9 T -0.964 T 0.001 T 0.037 -0.431 1.993 -1.56 -0.167 0.084 4.966 -0.431317 NA 1 0.011038 0.020329 NA NA NA 7.7890954 873 1 152192114 152192114 C T exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1991A:p.R664Q exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.G1991A:p.R664Q NA NA 1q21.3 NA NA NA NA rs7520249 0.61 0.61 0.61 0.559505 0.83 0.38 0.5576 0.528 0.5102 0.82 0.37 0.63 0.53 0.7143 0.82 0.95 T 0.016 B 0.001 B . . 1.000 P 0.46 N 3.58 T -0.918 T 0.002 T 0.07 1.033 9.219 -3.67 -0.609 -1.648 5.359 1.032807 NA 0.54 NA NA ID=COSM1334101;OCCURENCE=1(large_intestine) 0.601 NA 7.7890334 873 1 118165691 118165691 C T exonic FAM46C NA synonymous SNV FAM46C:NM_017709:exon2:c.C201T:p.H67H exonic ENSG00000183508 NA synonymous SNV ENSG00000183508:ENST00000369448:exon2:c.C201T:p.H67H Score=505;Name=lod=150 NA 1p12 Score=868;Name=V$ELK1_02 Name=CTCF NA NA rs1630312 0.25 0.25 0.245 0.207069 0.2873 0.0923 0.281 0.1974 0.2035 0.31 0.14 0.33 0.25 0.2641 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.133908 2.133908 NA 0.326512 0.266909 NA 0.261 NA 7.7887546 874 18 61650865 61650865 G A exonic SERPINB8 NA synonymous SNV SERPINB8:NM_001031848:exon5:c.G477A:p.L159L,SERPINB8:NM_002640:exon5:c.G477A:p.L159L,SERPINB8:NM_198833:exon5:c.G477A:p.L159L exonic ENSG00000166401 NA synonymous SNV ENSG00000166401:ENST00000353706:exon5:c.G477A:p.L159L,ENSG00000166401:ENST00000397985:exon5:c.G477A:p.L159L,ENSG00000166401:ENST00000397988:exon5:c.G477A:p.L159L,ENSG00000166401:ENST00000441827:exon5:c.G477A:p.L159L Score=363;Name=lod=40 NA 18q22.1 NA NA NA NA rs11537989 0.24 0.24 0.211 0.216054 0.3002 0.3224 0.2795 0.0393 0.2137 0.29 0.28 0.31 0.07 0.2757 0.31 . . . . . . . . 0.000 P . . . . . . . . . -0.029 3.867 3.87 0.942 -0.225 7.768 -0.028764 NA NA 0.308256 0.105765 NA 0.188 NA 7.7825106 874 16 53503943 53503943 C G exonic RBL2 NA synonymous SNV RBL2:NM_005611:exon15:c.C2091G:p.R697R exonic ENSG00000103479 NA synonymous SNV ENSG00000103479:ENST00000262133:exon15:c.C2091G:p.R697R,ENSG00000103479:ENST00000544405:exon15:c.C1869G:p.R623R Score=284;Name=lod=19 NA 16q12.2 Score=872;Name=V$SREBP1_02 Name=CTCF NA NA rs11540358 0.23 0.23 0.219 0.254393 0.2992 0.0496 0.2406 0.3835 0.2546 0.29 0.03 0.26 0.34 0.268 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680303 NA NA 0.316977 0.348499 NA 0.326 NA 7.7824896 874 3 41756986 41756986 A T exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon24:c.T2530A:p.L844M exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon24:c.T2530A:p.L844M NA NA 3p22.1 NA NA Name=8 NA rs61744385 0.25 0.25 0.277 0.265575 0.1839 0.1478 0.1628 0.5348 0.18 0.19 0.15 0.16 0.53 0.1975 0.53 0.51 T 0.001 B 0.003 B 0.019 N 0.860 P -1.01 N 0.66 T -0.950 T 0.000 T 0.07 -0.367 2.271 -1.82 -0.930 0.121 4.479 -0.366965 NA 0.48 0.171356 0.465377 NA 0.283 NA 7.7805774 874 7 45009341 45009341 A G exonic MYO1G NA nonsynonymous SNV MYO1G:NM_033054:exon11:c.T1466C:p.M489T exonic ENSG00000136286 NA nonsynonymous SNV ENSG00000136286:ENST00000258787:exon11:c.T1466C:p.M489T Score=466;Name=lod=104 NA 7p13 Score=825;Name=V$PAX4_01 NA NA NA rs3735485 0.89 0.89 0.89 0.900559 0.8439 0.8938 0.8602 0.9834 0.8824 0.84 0.91 0.85 0.98 0.8687 0.98 0.34 T 0.0 B 0.0 B 0.119 N 1.000 P -0.83 N -0.5 T -0.991 T 0.000 T 0.056 -0.596 1.333 4.04 0.617 -0.340 5.173 -0.596128 NA 0.48 0.840893 0.963232 NA 0.964 NA 7.7798404 874 17 3397702 3397702 C T exonic ASPA NA synonymous SNV ASPA:NM_000049:exon5:c.C693T:p.Y231Y,ASPA:NM_001128085:exon6:c.C693T:p.Y231Y exonic ENSG00000108381 NA synonymous SNV ENSG00000108381:ENST00000263080:exon5:c.C693T:p.Y231Y,ENSG00000108381:ENST00000456349:exon6:c.C693T:p.Y231Y Score=585;Name=lod=318 NA 17p13.2 Score=817;Name=V$BRN2_01 NA NA NA rs12948217 0.21 0.21 0.202 0.203674 0.3101 0.0496 0.1844 0.2345 0.2249 0.31 0.05 0.23 0.21 0.2656 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371912 NA NA 0.312442 0.243985 NA 0.283 CLINSIG=pathogenic;CLNDBN=Spongy_degeneration_of_central_nervous_system;CLNREVSTAT=single;CLNACC=RCV000002727.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1234:C0206307:271900:ORPHA141:80544005 7.7785246 874 19 10668673 10668673 A G exonic KRI1 NA nonsynonymous SNV KRI1:NM_023008:exon14:c.T1352C:p.L451P exonic ENSG00000129347 NA nonsynonymous SNV ENSG00000129347:ENST00000361821:exon13:c.T1340C:p.L447P,ENSG00000129347:ENST00000312962:exon14:c.T1352C:p.L451P NA NA 19p13.2 NA NA NA NA rs1982074 0.16 0.16 0.128 0.176917 0.163 0.2192 0.33 0.0378 0.227 0.15 0.22 0.27 0.03 0.1979 0.27 0.31 T 0.001 B 0.001 B 0.051 N 0.034 P -0.12 N 3.35 T -0.907 T 0.000 T 0.081 0.793 8.178 -5.26 -0.810 0.533 12.820 0.793193 NA 0.27 0.193953 0.060826 NA 0.123 NA 7.7784804 874 22 23631801 23631801 T C exonic BCR NA synonymous SNV BCR:NM_004327:exon13:c.T2700C:p.N900N,BCR:NM_021574:exon13:c.T2700C:p.N900N exonic ENSG00000186716 NA synonymous SNV ENSG00000186716:ENST00000305877:exon13:c.T2700C:p.N900N,ENSG00000186716:ENST00000359540:exon13:c.T2700C:p.N900N Score=486;Name=lod=126 NA 22q11.23 NA NA NA NA rs2227939 0.31 0.31 0.314 0.322684 0.2982 0.0754 0.3242 0.5461 0.2996 0.3 0.08 0.31 0.57 0.2964 0.57 . . . . . . . . 0.000 P . . . . . . . . . 0.797 8.196 2.7 0.703 0.565 5.543 0.797066 NA NA 0.295233 0.512483 NA 0.304 NA 7.7768336 874 1 24406535 24406535 G A exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon20:c.C2557T:p.P853S exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon20:c.C2557T:p.P853S,ENSG00000142661:ENST00000330966:exon20:c.C2560T:p.P854S,ENSG00000142661:ENST00000374434:exon20:c.C2557T:p.P853S NA NA 1p36.11 Score=900;Name=V$SREBP1_02 NA NA NA rs35446243 0.11 0.11 0.088 0.0888578 0.1859 0.002 0.2363 0.0091 0.0818 0.18 0.0035 0.24 0.02 0.1715 0.24 0.45 T 0.023 B 0.012 B 0.094 N 1.000 P -0.03 N 0.66 T -1.013 T 0.000 T 0.027 0.729 7.875 1.21 0.691 0.246 1.576 0.72906 NA 0.15 0.199157 0.041071 NA 0.058 NA 7.7767764 874 6 32629936 32629936 C T exonic HLA-DQB1 NA nonsynonymous SNV HLA-DQB1:NM_001243961:exon3:c.G469A:p.G157S,HLA-DQB1:NM_002123:exon3:c.G469A:p.G157S exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000399082:exon2:c.G199A:p.G67S,ENSG00000179344:ENST00000374943:exon3:c.G469A:p.G157S,ENSG00000179344:ENST00000399079:exon3:c.G469A:p.G157S,ENSG00000179344:ENST00000434651:exon3:c.G469A:p.G157S,ENSG00000179344:ENST00000399084:exon4:c.G469A:p.G157S NA NA 6p21.32 NA NA NA NA rs1049107 0.21 0.21 0.233 0.209265 0.1958 0.2431 0.1484 0.2216 0.2147 0.23 0.16 0.19 0.24 0.1858 0.24 0.01 D 0.007 B 0.084 B 0.675 N 1.000 P 0.02 N 4.18 T -0.892 T 0.002 T 0.23 0.335 5.815 -1.24 -0.179 -0.490 6.026 0.334684 NA 0.16 0.175089 0.208561 NA 0.203 NA 7.7766444 874 12 52681925 52681925 A C exonic KRT81 NA nonsynonymous SNV KRT81:NM_002281:exon5:c.T743G:p.L248R exonic ENSG00000205426 NA nonsynonymous SNV ENSG00000205426:ENST00000327741:exon5:c.T743G:p.L248R NA NA 12q13.13 NA Name=Pol2 Name=2 NA rs6580873 0.92 0.92 0.926 0.936102 0.8519 0.996 0.9207 0.9887 0.9008 0.85 1 0.88 0.98 0.8753 1 1 T 0.0 B 0.0 B 0.002 N 0.003 P . . -1.05 T -0.926 T 0.000 T 0.054 -2.119 0.006 2.73 0.406 -0.476 3.376 -2.118797 NA 0.99 0.829535 0.971403 NA 0.978 NA 7.7765984 874 19 1047161 1047161 A G exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon15:c.A1851G:p.G617G exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon9:c.A1437G:p.G479G,ENSG00000064687:ENST00000433129:exon14:c.A1851G:p.G617G,ENSG00000064687:ENST00000263094:exon15:c.A1851G:p.G617G Score=501;Name=lod=145 NA 19p13.3 Score=680;Name=V$BRACH_01 Name=PAX5-C20 Name=8 NA rs3752237 0.68 0.68 0.634 0.695288 0.6004 0.8056 0.7695 0.6089 0.7434 0.61 0.84 0.75 0.56 0.6784 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113166 NA NA 0.612366 0.646979 NA 0.587 NA 7.7755006 875 15 90892293 90892293 C T ncRNA_exonic GABARAPL3 NA NA NA exonic ENSG00000238244 NA nonsynonymous SNV ENSG00000238244:ENST00000412799:exon1:c.G137A:p.R46K Score=681;Name=lod=778 NA 15q26.1 NA NA NA NA rs2589973 0.54 0.54 0.516 0.578275 0.2922 0.7877 0.5706 0.6573 0.5552 0.29 0.78 0.51 0.65 0.4332 0.78 1 T . . . . . . 1.000 P . . 1.33 T -0.954 T 0.000 T 0.041 -0.452 1.906 1.43 0.026 2.321 4.88 -0.452008 NA 1 NA NA ID=COSM1517858;OCCURENCE=1(lung) 0.536 NA 7.7746 875 17 39742856 39742856 G A exonic KRT14 NA synonymous SNV KRT14:NM_000526:exon1:c.C231T:p.S77S exonic ENSG00000186847 NA synonymous SNV ENSG00000186847:ENST00000167586:exon1:c.C231T:p.S77S Score=428;Name=lod=73 NA 17q21.2 NA NA Name=2 NA rs6503639 0.18 0.18 0.17 0.152356 0.3012 NA 0.2003 0.1528 0.1217 0.31 NA 0.21 0.18 0.2558 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124098 NA NA 0.335349 0.165985 NA 0.145 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056700.1;CLNDSDB=.;CLNDSDBID=. 7.7743176 875 16 11981487 11981487 G A exonic GSPT1 NA synonymous SNV GSPT1:NM_001130006:exon7:c.C894T:p.G298G,GSPT1:NM_001130007:exon7:c.C483T:p.G161G,GSPT1:NM_002094:exon7:c.C897T:p.G299G exonic ENSG00000103342 NA synonymous SNV ENSG00000103342:ENST00000563468:exon5:c.C483T:p.G161G,ENSG00000103342:ENST00000420576:exon7:c.C483T:p.G161G,ENSG00000103342:ENST00000434724:exon7:c.C897T:p.G299G,ENSG00000103342:ENST00000439887:exon7:c.C894T:p.G298G,ENSG00000103342:ENST00000568849:exon7:c.C576T:p.G192G Score=649;Name=lod=581 NA 16p13.13 Score=886;Name=V$FOXJ2_02 NA NA Score=109;Name=877760_0_-_109 rs3752426 0.16 0.16 0.14 0.120008 0.3211 0.0109 0.2075 0.0257 0.091 0.33 0.01 0.23 0.03 0.2333 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.323604 1.323604 NA 0.338762 0.076275 NA 0.21 NA 7.7735046 875 14 23299135 23299135 G T exonic MRPL52 NA nonsynonymous SNV MRPL52:NM_178336:exon1:c.G14T:p.G5V,MRPL52:NM_180982:exon1:c.G14T:p.G5V,MRPL52:NM_181307:exon1:c.G14T:p.G5V exonic ENSG00000172590 NA nonsynonymous SNV ENSG00000172590:ENST00000355151:exon1:c.G14T:p.G5V,ENSG00000172590:ENST00000397496:exon1:c.G14T:p.G5V,ENSG00000172590:ENST00000397505:exon1:c.G14T:p.G5V,ENSG00000172590:ENST00000432849:exon1:c.G14T:p.G5V,ENSG00000172590:ENST00000556465:exon1:c.G14T:p.G5V NA NA 14q11.2 NA Name=TCF4,Pol2(phosphoS2),Pol2,SP1,USF1_(SC-8983),YY1_(C-20),Znf143_(16618-1-AP),TAF1,GABP,ZBTB33,POU2F2,CTCF,GTF2F1_(RAP-74),CHD2_(N-1250),ELF1_(SC-631),Max,STAT1,Oct-2,YY1,ZNF263,HDAC2_(SC-6296),Pol2-4H8,Sin3Ak-20,SIRT6,FOSL2,ELK4,USF-1,IRF1,TBP,NFKB,HEY1,c-Myc,CCNT2,GRp20,PAX5-C20 Name=148 NA rs1135641 0.53 0.53 0.521 0.514177 0.5129 0.5516 0.3862 0.559 0.5072 0.51 0.54 0.48 0.57 0.5382 0.57 0.11 T 0.133 B 0.144 B 0.392 N 1.000 P 1.39 L 1.92 T -0.937 T 0.000 T 0.567 2.637 14.78 -1.72 -0.184 -0.056 6.902 2.637096 2.637096 0.04 0.510816 0.526101 NA 0.457 NA 7.7714174 875 10 27303605 27303605 A T exonic ANKRD26 NA nonsynonymous SNV ANKRD26:NM_001256053:exon31:c.T4539A:p.F1513L,ANKRD26:NM_014915:exon31:c.T4542A:p.F1514L exonic ENSG00000107890 NA nonsynonymous SNV ENSG00000107890:ENST00000376070:exon16:c.T3213A:p.F1071L,ENSG00000107890:ENST00000376087:exon31:c.T4542A:p.F1514L,ENSG00000107890:ENST00000436985:exon31:c.T4590A:p.F1530L Score=259;Name=lod=15 NA 10p12.1 NA NA NA NA rs2274741 0.3 0.3 0.282 0.317292 0.1928 0.5506 0.1758 0.236 0.4151 0.2 0.59 0.17 0.22 0.2258 0.59 1 T 0.0 B 0.0 B 0.015 N 1.000 P -2.225 N 4.39 T -0.964 T 0.000 T 0.148 -0.616 1.26 1.33 -0.287 0.535 2.874 -0.616082 NA 1 0.144766 0.232577 NA 0.239 NA 7.7699674 875 7 84644500 84644500 C T exonic SEMA3D NA synonymous SNV SEMA3D:NM_152754:exon14:c.G1578A:p.L526L exonic ENSG00000153993 NA synonymous SNV ENSG00000153993:ENST00000284136:exon14:c.G1578A:p.L526L Score=684;Name=lod=805 NA 7q21.11 NA Name=CTCF,Nrf1 Name=19 NA rs17559084 0.18 0.18 0.163 0.150759 0.3211 0.0556 0.2032 0.0318 0.1973 0.32 0.06 0.23 0.04 0.244 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685002 NA NA 0.332093 0.092374 NA 0.21 NA 7.7694736 875 19 37854235 37854235 G T exonic HKR1 NA nonsynonymous SNV HKR1:NM_181786:exon6:c.G1538T:p.S513I exonic ENSG00000181666 NA nonsynonymous SNV ENSG00000181666:ENST00000541583:exon4:c.G1355T:p.S452I,ENSG00000181666:ENST00000392153:exon5:c.G1481T:p.S494I,ENSG00000181666:ENST00000589392:exon5:c.G1484T:p.S495I,ENSG00000181666:ENST00000324411:exon6:c.G1538T:p.S513I,ENSG00000181666:ENST00000544914:exon6:c.G719T:p.S240I,ENSG00000181666:ENST00000591471:exon9:c.G719T:p.S240I NA NA 19q13.12 NA NA NA NA rs3745765 0.31 0.31 0.291 0.347244 0.159 0.2986 0.2695 0.534 0.3937 0.16 0.33 0.3 0.53 0.2358 0.53 1 T 0.001 B 0.004 B . . 1.000 P -0.445 N 2.38 T -0.920 T 0.000 T 0.048 -2.051 0.006 1.52 0.004 -1.475 4.178 -2.050625 NA 0.66 0.170465 0.481162 NA 0.312 NA 7.7680684 875 16 69373414 69373414 T C exonic COG8 NA synonymous SNV COG8:NM_032382:exon1:c.A42G:p.T14T exonic ENSG00000213380 NA synonymous SNV ENSG00000213380:ENST00000306875:exon1:c.A42G:p.T14T,ENSG00000213380:ENST00000562081:exon1:c.A42G:p.T14T NA NA 16q22.1 NA Name=GABP,USF2,POU2F2,CTCFL_(SC-98982),SP2_(SC-643),TAF1,ETS1,YY1_(C-20),BRCA1_(C-1863),TAF7_(SQ-8),Pol2,PU.1,Oct-2,ELF1_(SC-631),STAT1,GTF2F1_(RAP-74),CTCF,ELK4,Pol2(b),KAP1,Pol2-4H8,HA-E2F1,Sin3Ak-20,YY1,NANOG_(SC-33759),CTCF_(SC-5916),RFX5_(N-494),HEY1,NFKB,TBP Name=148 NA rs11542583 0.23 0.23 0.219 0.257588 0.2853 0.0833 0.2161 0.3192 0.3548 0.27 0.09 0.24 0.32 0.2968 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958061 NA NA 0.316737 0.33946 NA 0.341 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082299.1;CLNDSDB=.;CLNDSDBID=. 7.7678296 875 11 120998942 120998942 C T exonic TECTA NA synonymous SNV TECTA:NM_005422:exon8:c.C2256T:p.I752I exonic ENSG00000109927 NA synonymous SNV ENSG00000109927:ENST00000264037:exon8:c.C2256T:p.I752I,ENSG00000109927:ENST00000392793:exon9:c.C2256T:p.I752I Score=492;Name=lod=133 NA 11q23.3 Score=914;Name=V$FREAC7_01 NA NA NA rs10502247 0.3 0.3 0.31 0.310304 0.3022 0.4355 0.2622 0.1475 0.4438 0.3 0.41 0.28 0.17 0.3087 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170418 NA NA 0.288672 0.196323 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038484.1;CLNDSDB=.;CLNDSDBID=. 7.7670946 875 17 33768354 33768354 C T exonic SLFN13 NA nonsynonymous SNV SLFN13:NM_144682:exon6:c.G1954A:p.E652K exonic ENSG00000154760 NA nonsynonymous SNV ENSG00000154760:ENST00000533791:exon4:c.G1954A:p.E652K,ENSG00000154760:ENST00000360502:exon5:c.G1000A:p.E334K,ENSG00000154760:ENST00000285013:exon6:c.G1954A:p.E652K,ENSG00000154760:ENST00000542635:exon6:c.G1954A:p.E652K,ENSG00000154760:ENST00000526861:exon7:c.G1954A:p.E652K,ENSG00000154760:ENST00000534689:exon7:c.G1000A:p.E334K NA NA 17q12 NA NA NA NA rs3744371 0.57 0.57 0.578 0.648962 0.5159 0.6508 0.4697 0.8684 0.6145 0.44 0.63 0.46 0.78 0.5536 0.78 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.98 N -2.35 D -0.955 T 0.000 T 0.11 -1.152 0.101 0.733 -0.330 0.960 6.430 -1.15203 NA 1 0.49697 0.746891 NA 0.681 NA 7.7668634 875 11 43940644 43940644 G T exonic ALKBH3 NA synonymous SNV ALKBH3:NM_139178:exon9:c.G726T:p.G242G exonic ENSG00000166199 NA synonymous SNV ENSG00000166199:ENST00000302708:exon9:c.G726T:p.G242G Score=525;Name=lod=182 NA 11p11.2 Score=877;Name=V$SREBP1_01 NA NA NA rs1048928 0.62 0.62 0.58 0.616214 0.6243 0.8373 0.6542 0.2958 0.7863 0.63 0.85 0.65 0.29 0.6514 0.85 . . . . . . . . 0.000 P . . . . -1.049 T 0.000 T . 1.219 9.945 2.83 0.837 0.148 7.435 1.218599 NA NA 0.624186 0.362233 NA 0.609 NA 7.7667806 875 9 134406071 134406071 C G exonic UCK1 NA nonsynonymous SNV UCK1:NM_001261451:exon2:c.G85C:p.E29Q exonic ENSG00000130717 NA nonsynonymous SNV ENSG00000130717:ENST00000372211:exon2:c.G85C:p.E29Q,ENSG00000130717:ENST00000491309:exon2:c.G112C:p.E38Q NA NA 9q34.13 NA Name=ZBTB7A_(SC-34508),CTCFL_(SC-98982),E2F6_(H-50),CTCF Name=75 NA rs7867616 0.85 0.85 0.86 0.86222 0.838 0.999 0.8905 0.6785 0.9744 0.84 1 0.87 0.69 0.8662 1 . . . . . . . . 1.000 P . . . . -1.007 T 0.000 T 0.123 1.029 9.202 2.57 0.432 0.335 8.773 1.028618 NA 0.01 0.862674 0.711757 NA 0.819 NA 7.7664594 875 17 38991003 38991003 T C exonic TMEM99 NA nonsynonymous SNV TMEM99:NM_001195386:exon3:c.T235C:p.Y79H,TMEM99:NM_001195387:exon3:c.T235C:p.Y79H,TMEM99:NM_145274:exon3:c.T235C:p.Y79H exonic ENSG00000167920 NA nonsynonymous SNV ENSG00000167920:ENST00000301665:exon3:c.T235C:p.Y79H,ENSG00000167920:ENST00000436612:exon3:c.T235C:p.Y79H NA NA 17q21.2 NA NA NA NA rs10558 0.3 0.3 0.304 0.33746 0.1839 0.4077 0.1499 0.4758 0.3691 0.18 0.4 0.17 0.45 0.2191 0.45 0 D 0.138 B 0.03 B . . 1.000 P 0 N 1.5 T -0.926 T 0.000 T 0.344 -0.444 1.938 -0.47 -0.905 -1.878 . -0.444291 NA NA 0.164405 0.422956 NA 0.355 NA 7.7659284 875 19 43243217 43243217 A G exonic PSG3 NA nonsynonymous SNV PSG3:NM_021016:exon2:c.T89C:p.L30S exonic ENSG00000221826 NA nonsynonymous SNV ENSG00000221826:ENST00000327495:exon2:c.T89C:p.L30S,ENSG00000221826:ENST00000595140:exon2:c.T89C:p.L30S NA NA 19q13.2 NA NA NA NA rs12185496 0.5 0.5 0.493 0.65655 0.5507 0.4772 0.6571 0.8903 0.6339 0.45 0.37 0.55 0.7 0.5894 0.78 0.2 T 0.001 B 0.009 B . . 1.000 P 1.935 M 2.08 T -1.035 T 0.000 T 0.04 -0.191 3.073 -1.17 -0.710 -2.830 5.790 -0.190683 NA 0.37 0.427907 0.780427 NA NA NA 7.7653264 876 19 51738917 51738917 G A exonic CD33 NA nonsynonymous SNV CD33:NM_001082618:exon5:c.G529A:p.G177R,CD33:NM_001177608:exon6:c.G910A:p.G304R,CD33:NM_001772:exon6:c.G910A:p.G304R exonic ENSG00000105383 NA nonsynonymous SNV ENSG00000105383:ENST00000421133:exon5:c.G529A:p.G177R,ENSG00000105383:ENST00000436584:exon5:c.G529A:p.G177R,ENSG00000105383:ENST00000262262:exon6:c.G910A:p.G304R,ENSG00000105383:ENST00000391796:exon6:c.G910A:p.G304R NA NA 19q13.41 NA NA NA NA rs35112940 0.1 0.1 0.082 0.0712859 0.2117 NA 0.1095 0.025 0.0358 0.22 NA 0.13 0.03 0.1603 0.22 0.64 T 0.142 B 0.046 B . . 1.000 P 1.69 L 2.28 T -1.022 T 0.000 T 0.148 0.899 8.653 0.282 0.154 -1.610 3.458 0.898675 NA 0.21 0.19814 0.054244 NA 0.101 NA 7.7631934 876 6 31079889 31079889 C G exonic C6orf15 NA nonsynonymous SNV C6orf15:NM_014070:exon2:c.G247C:p.A83P exonic ENSG00000204542 NA nonsynonymous SNV ENSG00000204542:ENST00000259870:exon2:c.G247C:p.A83P NA NA 6p21.33 NA NA NA NA rs1265053 0.52 0.52 0.494 0.529752 0.5119 0.4861 0.562 0.5469 0.547 0.5 0.47 0.57 0.56 0.5338 0.57 1 T 0.0 B 0.0 B 0.582 N 1.000 P -2.075 N 3.62 T -0.935 T 0.001 T 0.029 -1.301 0.037 2.79 0.181 1.057 8.024 -1.301149 NA 1 0.524767 0.552429 NA 0.565 NA 7.7628664 876 3 187419816 187419816 T C exonic RTP2 NA nonsynonymous SNV RTP2:NM_001004312:exon1:c.A101G:p.N34S exonic ENSG00000198471 NA nonsynonymous SNV ENSG00000198471:ENST00000358241:exon1:c.A101G:p.N34S Score=435;Name=lod=78 NA 3q27.3 NA NA NA NA rs61754877 0.15 0.15 0.145 0.170128 0.1938 0.1409 0.1009 0.1581 0.2413 0.2 0.11 0.1 0.15 0.1823 0.2 0.23 T 0.001 B 0.006 B 0.069 N 0.998 P 0.86 L 2.38 T -0.975 T 0.000 T 0.039 1.654 11.49 0.746 0.126 0.691 4.205 1.65411 1.65411 0.19 0.195233 0.150704 NA 0.109 NA 7.7620004 876 3 170715830 170715830 G A exonic SLC2A2 NA synonymous SNV SLC2A2:NM_000340:exon11:c.C1437T:p.F479F exonic ENSG00000163581 NA synonymous SNV ENSG00000163581:ENST00000382808:exon10:c.C1080T:p.F360F,ENSG00000163581:ENST00000314251:exon11:c.C1437T:p.F479F NA NA 3q26.2 NA Name=HNF4G_(SC-6558),MafK_(ab50322),FOXA2_(SC-6554),ELF1_(SC-631),FOXA1_(SC-101058),RXRA,p300,FOXA1_(C-20),HNF4A_(H-171),HDAC2_(SC-6296),HNF4A,TCF4 Name=98 NA rs5398 0.36 0.36 0.369 0.372604 0.2903 0.2411 0.3084 0.6354 0.2832 0.29 0.24 0.33 0.61 0.3159 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489797 NA NA 0.298488 0.587608 NA 0.435 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118386.2;CLNDSDB=.;CLNDSDBID=. 7.7619786 876 3 57138419 57138419 G A exonic IL17RD NA nonsynonymous SNV IL17RD:NM_017563:exon8:c.C764T:p.T255M exonic ENSG00000144730 NA nonsynonymous SNV ENSG00000144730:ENST00000296318:exon8:c.C764T:p.T255M,ENSG00000144730:ENST00000427856:exon8:c.C692T:p.T231M,ENSG00000144730:ENST00000463523:exon8:c.C332T:p.T111M,ENSG00000144730:ENST00000320057:exon9:c.C332T:p.T111M Score=583;Name=lod=311 NA 3p14.3 Score=772;Name=V$HEN1_02 NA NA NA rs6780995 0.5 0.5 0.479 0.530152 0.7147 0.1369 0.5216 0.5741 0.6922 0.72 0.12 0.6 0.53 0.649 0.72 0.11 T 0.943 P 0.302 B 0.088 N 0.790 P 0.695 N 2.9 T -1.079 T 0.000 T 0.101 1.995 12.63 -0.521 -0.011 0.831 10.944 1.995041 1.995041 0.02 0.707791 0.584657 NA 0.638 NA 7.7618424 876 11 48238549 48238549 G A exonic OR4B1 NA nonsynonymous SNV OR4B1:NM_001005470:exon1:c.G188A:p.C63Y exonic ENSG00000175619 NA nonsynonymous SNV ENSG00000175619:ENST00000309562:exon1:c.G188A:p.C63Y NA NA 11p11.2 NA NA NA NA rs11606506 0.22 0.22 0.2 0.274161 0.174 0.3869 0.1916 0.171 0.4591 0.18 0.34 0.19 0.18 0.2206 0.34 1 T 0.0 B 0.0 B 0.838 N 1.000 P -1.585 N 4.1 T -0.945 T 0.000 T 0.037 -2.547 0.003 0.102 -0.569 1.481 2.065 -2.546631 NA 1 0.177059 0.174693 NA 0.217 NA 7.7616744 876 2 219562675 219562675 G A exonic STK36 NA nonsynonymous SNV STK36:NM_001243313:exon25:c.G2945A:p.G982D,STK36:NM_015690:exon25:c.G3008A:p.G1003D exonic ENSG00000163482 NA nonsynonymous SNV ENSG00000163482:ENST00000295709:exon25:c.G3008A:p.G1003D,ENSG00000163482:ENST00000392105:exon25:c.G2945A:p.G982D,ENSG00000163482:ENST00000392106:exon25:c.G2945A:p.G982D,ENSG00000163482:ENST00000440309:exon25:c.G3008A:p.G1003D NA NA 2q35 NA NA NA NA rs1863704 0.21 0.21 0.202 0.189696 0.3757 0.0556 0.3285 0.0212 0.2658 0.37 0.06 0.31 0.05 0.3146 0.38 0.25 T 0.673 P 0.225 B 0.602 N 1.000 P 0.55 N -0.4 T -0.910 T 0.000 T 0.438 -1.039 0.208 2.01 0.122 0.823 6.851 -1.039006 NA 0.62 0.38186 0.07626 ID=COSM1565079;OCCURENCE=1(large_intestine) 0.312 NA 7.7611734 876 1 200143281 200143281 C T exonic NR5A2 NA synonymous SNV NR5A2:NM_001276464:exon7:c.C1353T:p.N451N,NR5A2:NM_003822:exon7:c.C1431T:p.N477N,NR5A2:NM_205860:exon8:c.C1569T:p.N523N exonic ENSG00000116833 NA synonymous SNV ENSG00000116833:ENST00000236914:exon7:c.C1431T:p.N477N,ENSG00000116833:ENST00000544748:exon7:c.C1353T:p.N451N,ENSG00000116833:ENST00000367362:exon8:c.C1569T:p.N523N Score=634;Name=lod=501 NA 1q32.1 Score=821;Name=V$ARNT_02 Name=NRSF NA NA rs1060060 0.37 0.37 0.39 0.354433 0.2913 0.5179 0.3213 0.3669 0.2577 0.3 0.51 0.31 0.37 0.3212 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.476888 NA NA 0.293256 0.340218 NA 0.478 NA 7.7609106 876 7 77256713 77256713 A G exonic PTPN12 NA nonsynonymous SNV PTPN12:NM_001131009:exon12:c.A1327G:p.T443A,PTPN12:NM_001131008:exon13:c.A1360G:p.T454A,PTPN12:NM_002835:exon13:c.A1717G:p.T573A exonic ENSG00000127947 NA nonsynonymous SNV ENSG00000127947:ENST00000407343:exon1:c.A241G:p.T81A,ENSG00000127947:ENST00000435495:exon12:c.A1327G:p.T443A,ENSG00000127947:ENST00000248594:exon13:c.A1717G:p.T573A,ENSG00000127947:ENST00000415482:exon13:c.A1360G:p.T454A NA NA 7q11.23 NA NA Name=26 NA rs3750050 0.34 0.34 0.334 0.365016 0.16 0.6905 0.4366 0.2171 0.3896 0.16 0.68 0.41 0.19 0.2612 0.68 0.59 T 0.001 B 0.002 B 0.028 N 1.000 P 0.885 L 1.05 T -0.946 T 0.000 T 0.118 0.005 4.04 -0.387 -0.319 -0.275 1.038 0.005088 NA 0.12 0.151512 0.215388 NA 0.348 NA 7.7606214 876 22 45255637 45255637 G C exonic ARHGAP8,PRR5-ARHGAP8 NA nonsynonymous SNV ARHGAP8:NM_181335:exon11:c.G904C:p.G302R,ARHGAP8:NM_001017526:exon12:c.G997C:p.G333R,PRR5-ARHGAP8:NM_181334:exon14:c.G1270C:p.G424R exonic ENSG00000241484,ENSG00000248405 NA nonsynonymous SNV ENSG00000241484:ENST00000356099:exon11:c.G904C:p.G302R,ENSG00000241484:ENST00000389774:exon12:c.G997C:p.G333R,ENSG00000248405:ENST00000361473:exon14:c.G1297C:p.G433R,ENSG00000241484:ENST00000389773:exon14:c.G1270C:p.G424R,ENSG00000248405:ENST00000352766:exon16:c.G1534C:p.G512R,ENSG00000241484:ENST00000517296:exon16:c.G1534C:p.G512R NA NA 22q13.31 NA NA NA NA rs6007344 0.27 0.27 0.284 0.26857 0.1899 0.4048 0.1297 0.3207 0.2372 0.19 0.45 0.16 0.28 0.2093 0.45 0.4 T 0.0 B 0.001 B 0.943 N 1.000 P -0.765 N 2.25 T -0.912 T 0.000 T 0.652 -1.573 0.014 -2.67 -0.532 -0.388 1.860 -1.57323 NA 0.43 0.173605 0.300045 NA 0.297 NA 7.7605284 876 7 6026775 6026775 T C exonic PMS2 NA nonsynonymous SNV PMS2:NM_000535:exon11:c.A1621G:p.K541E exonic ENSG00000122512 NA nonsynonymous SNV ENSG00000122512:ENST00000441476:exon8:c.A1303G:p.K435E,ENSG00000122512:ENST00000265849:exon11:c.A1621G:p.K541E,ENSG00000122512:ENST00000406569:exon11:c.A1621G:p.K541E NA NA 7p22.1 NA NA NA NA rs2228006 0.88 0.88 0.892 0.883187 0.8767 0.878 0.7738 0.9418 0.8937 0.88 0.91 0.75 0.92 0.8514 0.92 1 T 0.0 B 0.0 B 0.497 N 0.910 P -1.445 N 1.0 T -0.949 T 0.000 T 0.353 -0.097 3.524 4.66 0.737 1.443 10.569 -0.097243 NA 0.58 0.845742 0.918483 NA 0.913 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_provided;CLNREVSTAT=exp|mult;CLNACC=RCV000030365.2|RCV000034619.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.;CLNDSDBID=NBK1211:C0009405:315058005|. 7.7594914 876 16 2140680 2140680 T C exonic PKD1 NA nonsynonymous SNV PKD1:NM_000296:exon44:c.A12130G:p.I4044V,PKD1:NM_001009944:exon44:c.A12133G:p.I4045V exonic ENSG00000008710 NA nonsynonymous SNV ENSG00000008710:ENST00000262304:exon44:c.A12133G:p.I4045V,ENSG00000008710:ENST00000423118:exon44:c.A12130G:p.I4044V NA NA 16p13.3 Score=942;Name=V$GATA2_01 NA NA NA rs10960 0.24 0.24 0.228 0.251997 0.1968 NA 0.2046 0.6346 0.0849 0.19 NA 0.22 0.6 0.1909 0.6 0.5 T 0.002 B 0.004 B 0.048 N 1.000 P -0.69 N -0.37 T -0.936 T 0.000 T 0.022 -1.66 0.012 -1.55 -0.387 -0.085 0.963 -1.659587 NA 0.42 0.186671 0.555861 NA 0.21 NA 7.7589624 876 20 8755243 8755243 T C exonic PLCB1 NA synonymous SNV PLCB1:NM_015192:exon27:c.T2988C:p.A996A,PLCB1:NM_182734:exon27:c.T2988C:p.A996A exonic ENSG00000182621 NA synonymous SNV ENSG00000182621:ENST00000338037:exon27:c.T2988C:p.A996A,ENSG00000182621:ENST00000378637:exon27:c.T2988C:p.A996A,ENSG00000182621:ENST00000378641:exon27:c.T2988C:p.A996A Score=477;Name=lod=116 NA 20p12.3 NA Name=CEBPB Name=11 NA rs2235613 0.57 0.57 0.58 0.613219 0.6481 0.4613 0.4986 0.6362 0.7843 0.62 0.45 0.58 0.62 0.6155 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.487787 1.487787 NA 0.644535 0.631866 ID=COSM1130575,COSM1130576;OCCURENCE=1(prostate) 0.638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117930.1;CLNDSDB=.;CLNDSDBID=. 7.7585316 876 12 85277561 85277561 T A exonic SLC6A15 NA nonsynonymous SNV SLC6A15:NM_018057:exon5:c.A833T:p.D278V exonic ENSG00000072041 NA nonsynonymous SNV ENSG00000072041:ENST00000450363:exon5:c.A833T:p.D278V NA NA 12q21.31 NA NA NA NA rs17183577 0.11 0.11 0.101 0.0746805 0.2266 NA 0.1599 0.0053 0.0286 0.23 NA 0.16 0.0041 0.1405 0.23 0 D 0.0 B 0.0 B . . 1.000 P . . -0.33 T -1.065 T 0.000 T 0.054 0.706 7.764 -0.422 -0.439 0.510 1.264 0.705915 NA 0.05 0.207907 0.04335 NA 0.051 NA 7.7583264 876 4 123192383 123192383 T C exonic KIAA1109 NA synonymous SNV KIAA1109:NM_015312:exon45:c.T7704C:p.D2568D exonic ENSG00000138688 NA synonymous SNV ENSG00000138688:ENST00000388738:exon45:c.T7704C:p.D2568D,ENSG00000138688:ENST00000455637:exon45:c.T7704C:p.D2568D,ENSG00000138688:ENST00000264501:exon47:c.T7704C:p.D2568D Score=685;Name=lod=809 NA 4q27 NA NA NA NA rs45574236 0.26 0.26 0.229 0.273363 0.2913 0.3611 0.3026 0.0333 0.4683 0.3 0.35 0.3 0.04 0.3137 0.35 . . . . . . . . 0.000 P . . . . -0.977 T 0.000 T . 0.626 7.365 0.618 0.109 1.125 10.850 0.625574 NA NA 0.303584 0.080115 ID=COSM1131284;OCCURENCE=1(prostate) 0.188 NA 7.7580826 876 17 3657159 3657159 C T exonic ITGAE NA nonsynonymous SNV ITGAE:NM_002208:exon13:c.G1445A:p.R482Q exonic ENSG00000083457 NA nonsynonymous SNV ENSG00000083457:ENST00000263087:exon13:c.G1445A:p.R482Q NA NA 17p13.2 NA NA NA NA rs2272606 0.58 0.58 0.612 0.554313 0.7515 0.2341 0.5245 0.7685 0.4131 0.75 0.22 0.58 0.75 0.6073 0.75 0 D 0.783 P 0.058 B . . 1.000 P 2.23 M 1.04 T -0.975 T 0.000 T 0.107 1.215 9.93 0.437 0.033 -0.221 7.430 1.214581 NA 0.02 0.717093 0.741716 NA 0.58 NA 7.7574404 876 2 219508372 219508372 A T exonic ZNF142 NA nonsynonymous SNV ZNF142:NM_001105537:exon8:c.T2867A:p.L956H exonic ENSG00000115568 NA nonsynonymous SNV ENSG00000115568:ENST00000411696:exon7:c.T2867A:p.L956H,ENSG00000115568:ENST00000449707:exon8:c.T2867A:p.L956H NA NA 2q35 NA NA NA NA rs3770213 0.21 0.21 0.187 0.191494 0.3757 0.0556 0.3271 0.028 0.2669 0.37 0.06 0.31 0.05 0.3206 0.38 0.54 T 0.979 D 0.533 P 0.010 N 1.000 P 0.805 L 2.53 T -0.962 T 0.000 T 0.077 2.96 15.87 -1.58 -0.052 0.104 5.506 2.960372 2.960372 0 0.379888 0.079213 NA 0.319 NA 7.7571454 876 8 143833856 143833856 C T exonic LYPD2 NA nonsynonymous SNV LYPD2:NM_205545:exon1:c.G14A:p.R5Q exonic ENSG00000197353 NA nonsynonymous SNV ENSG00000197353:ENST00000359228:exon1:c.G14A:p.R5Q NA NA 8q24.3 NA NA NA NA rs11778314 0.23 0.23 0.219 0.234625 0.1899 0.4038 0.1585 0.149 0.2761 0.2 0.39 0.16 0.14 0.2082 0.39 0.12 T 0.01 B 0.001 B 0.746 N 1.000 P 1.87 L -0.77 T -1.008 T 0.000 T 0.047 1.418 10.68 -2.4 -0.285 -0.279 5.400 1.417549 1.417549 0.4 0.179153 0.158791 ID=COSM1455272;OCCURENCE=1(large_intestine) 0.188 NA 7.7560804 877 20 57768743 57768743 C T exonic ZNF831 NA nonsynonymous SNV ZNF831:NM_178457:exon1:c.C2669T:p.A890V exonic ENSG00000124203 NA nonsynonymous SNV ENSG00000124203:ENST00000371030:exon1:c.C2669T:p.A890V NA NA 20q13.32 NA NA NA NA rs56057707 0.18 0.18 0.146 0.175919 0.1899 0.2728 0.2378 0.0802 0.1472 0.21 0.21 0.22 0.09 0.2036 0.22 1 T 0.003 B 0.002 B 0.145 N 1.000 P 0.345 N 3.58 T -0.922 T 0.000 T 0.043 0.642 7.45 2.79 0.210 -0.376 11.476 0.642402 NA 0.35 0.185323 0.08435 NA 0.065 NA 7.7545104 877 14 104165753 104165753 G A exonic XRCC3 NA nonsynonymous SNV XRCC3:NM_001100118:exon7:c.C722T:p.T241M,XRCC3:NM_001100119:exon8:c.C722T:p.T241M,XRCC3:NM_005432:exon8:c.C722T:p.T241M exonic ENSG00000126215 NA nonsynonymous SNV ENSG00000126215:ENST00000554974:exon2:c.C107T:p.T36M,ENSG00000126215:ENST00000553264:exon6:c.C722T:p.T241M,ENSG00000126215:ENST00000352127:exon7:c.C722T:p.T241M,ENSG00000126215:ENST00000445556:exon7:c.C722T:p.T241M,ENSG00000126215:ENST00000554913:exon8:c.C722T:p.T241M,ENSG00000126215:ENST00000555055:exon8:c.C722T:p.T241M NA NA 14q32.33 NA NA NA NA rs861539 0.25 0.25 0.263 0.216853 0.3936 0.0734 0.2291 0.1906 0.2096 0.4 0.09 0.27 0.19 0.3075 0.4 0.33 T 0.541 P 0.19 B 0.122 N 1.000 P 1.155 L 1.05 T -0.912 T 0.000 T 0.113 1.59 11.27 1.35 0.376 0.642 12.316 1.589788 1.589788 0.18 0.378227 0.215811 ID=COSM1128325;OCCURENCE=1(prostate) 0.319 CLINSIG=other;CLNDBN=Cutaneous_malignant_melanoma_6;CLNREVSTAT=single;CLNACC=RCV000009500.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C3151417:613972:ORPHA618 7.7540064 877 18 65179829 65179829 G A exonic DSEL NA nonsynonymous SNV DSEL:NM_032160:exon2:c.C2047T:p.P683S exonic ENSG00000171451 NA nonsynonymous SNV ENSG00000171451:ENST00000310045:exon2:c.C2047T:p.P683S NA NA 18q22.1 NA NA NA NA rs2279269 0.47 0.47 0.458 0.435503 0.5686 0.498 0.4294 0.3041 0.4162 0.57 0.51 0.46 0.27 0.4941 0.57 1 T 0.0 B 0.0 B 0.033 N 1.000 P -1.355 N 2.45 T -0.930 T 0.000 T 0.018 0.394 6.141 2.92 0.905 1.602 1.172 0.394297 NA 0.76 0.516744 0.323877 NA 0.362 NA 7.7538894 877 11 130784616 130784616 T C exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon1:c.A1219G:p.S407G exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000265909:exon1:c.A1219G:p.S407G,ENSG00000120451:ENST00000533214:exon1:c.A1219G:p.S407G NA NA 11q24.3 NA NA NA NA rs3190345 0.14 0.14 0.135 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 0.1747 0.21 1 T 0.0 B 0.0 B 0.874 N 1.000 P -0.975 N 2.44 T -0.948 T 0.000 T 0.025 -1.423 0.021 2.97 0.208 0.546 4.965 -1.42284 NA 1 0.207819 0.071558 NA 0.21 NA 7.7520144 877 19 44981375 44981375 T C exonic ZNF180 NA synonymous SNV ZNF180:NM_013256:exon5:c.A1323G:p.Q441Q exonic ENSG00000167384 NA synonymous SNV ENSG00000167384:ENST00000391956:exon4:c.A1248G:p.Q416Q,ENSG00000167384:ENST00000221327:exon5:c.A1323G:p.Q441Q,ENSG00000167384:ENST00000592529:exon5:c.A1242G:p.Q414Q NA NA 19q13.31 Score=914;Name=V$CEBP_01 Name=KAP1,ZNF274,SETDB1 Name=69 NA rs954314 0.18 0.18 0.168 0.160543 0.338 0.002 0.1729 0.1513 0.1452 0.35 0.0017 0.18 0.13 0.2555 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218109 NA NA 0.322791 0.197912 ID=COSM1394471;OCCURENCE=1(large_intestine) 0.254 NA 7.7503756 877 2 74690039 74690039 G A exonic MOGS NA nonsynonymous SNV MOGS:NM_006302:exon4:c.C877T:p.P293S,MOGS:NM_001146158:exon5:c.C559T:p.P187S exonic ENSG00000115275 NA nonsynonymous SNV ENSG00000115275:ENST00000233616:exon4:c.C877T:p.P293S,ENSG00000115275:ENST00000448666:exon5:c.C559T:p.P187S,ENSG00000115275:ENST00000452063:exon5:c.C559T:p.P187S NA NA 2p13.1 NA NA NA NA rs2268416 0.5 0.5 0.542 0.538738 0.159 0.8214 0.3242 0.8714 0.3405 0.15 0.82 0.27 0.85 0.2792 0.85 0.95 T 0.0 B 0.0 B 0.062 N 0.000 P -0.975 N 1.28 T -0.985 T 0.000 T 0.118 -1.939 0.007 0.945 -0.235 0.754 1.078 -1.939376 NA 1 0.144854 0.734032 NA 0.391 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081382.1;CLNDSDB=.;CLNDSDBID=. 7.7502794 877 18 6993673 6993673 T C exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon35:c.A4975G:p.I1659V exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon35:c.A4975G:p.I1659V NA NA 18p11.31 NA NA NA NA rs62081533 0.14 0.14 0.147 0.113419 0.1958 0.0903 0.1239 0.0371 0.1483 0.21 0.1 0.15 0.05 0.1665 0.22 0.25 T 0.0 B 0.003 B 0.915 N 1.000 P 0 N 3.01 T -0.911 T 0.000 T 0.053 0.996 9.069 -3.46 -0.707 -0.037 9.401 0.996472 NA NA 0.221279 0.072174 NA 0.167 NA 7.7497544 877 4 68447249 68447249 A G intronic STAP1 NA NA NA intronic ENSG00000035720 NA NA NA NA Name=Parkinson's disease 4q13.2 Score=816;Name=V$CHX10_01 Name=NFKB Name=13 NA rs2242330 0.2 0.2 0.196 0.207668 0.2515 0.246 0.1441 0.1082 0.3027 0.26 0.24 0.14 0.11 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.450276 2.450276 NA NA NA NA 0.246 NA 7.7485 877 6 46107752 46107752 C G exonic ENPP4 NA nonsynonymous SNV ENPP4:NM_014936:exon2:c.C432G:p.H144Q exonic ENSG00000001561 NA nonsynonymous SNV ENSG00000001561:ENST00000321037:exon2:c.C432G:p.H144Q Score=343;Name=lod=33 NA 6p21.1 NA NA NA NA rs7451713 0.42 0.42 0.438 0.451677 0.5348 0.4444 0.4467 0.2186 0.6922 0.54 0.41 0.49 0.22 0.5172 0.54 0.74 T 0.077 B 0.093 B 0.002 N 0.099 P 0.385 N -0.59 T -1.081 T 0.069 T 0.109 1.012 9.135 2.08 0.088 0.713 10.585 1.012363 NA 0.09 0.533372 0.256468 NA 0.42 NA 7.7479614 877 19 4457650 4457650 C T exonic UBXN6 NA synonymous SNV UBXN6:NM_025241:exon1:c.G45A:p.K15K exonic ENSG00000167671 NA synonymous SNV ENSG00000167671:ENST00000301281:exon1:c.G45A:p.K15K Score=546;Name=lod=221 NA 19p13.3 NA Name=ZBTB7A_(SC-34508),TAF1,TAF7_(SQ-8) Name=84 NA rs1044510 0.41 0.41 0.355 0.40615 0.2763 0.6171 0.4294 0.3374 0.3988 0.28 0.62 0.43 0.34 0.3602 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.925682 1.925682 NA 0.283104 0.330759 NA NA NA 7.7470626 878 17 48452776 48452776 A C exonic EME1 NA nonsynonymous SNV EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D exonic ENSG00000154920 NA nonsynonymous SNV ENSG00000154920:ENST00000511648:exon1:c.A207C:p.E69D,ENSG00000154920:ENST00000338165:exon2:c.A207C:p.E69D,ENSG00000154920:ENST00000393271:exon2:c.A207C:p.E69D,ENSG00000154920:ENST00000511519:exon2:c.A207C:p.E69D,ENSG00000154920:ENST00000511711:exon2:c.A207C:p.E69D NA NA 17q21.33 NA NA NA NA rs3760413 0.74 0.74 0.749 0.745407 0.8777 0.244 0.8905 0.9932 0.6881 0.87 0.24 0.92 0.99 0.818 0.99 1 T 0.0 B 0.001 B 0.883 N 1.000 P -0.255 N 2.87 T -0.955 T 0.000 T 0.124 -1.77 0.01 -6.36 -1.189 -1.563 1.093 -1.770481 NA 0 0.894186 0.974126 NA 0.848 NA 7.7434474 878 3 49570200 49570200 C T exonic DAG1 NA synonymous SNV DAG1:NM_001177639:exon3:c.C2256T:p.H752H,DAG1:NM_001177643:exon3:c.C2256T:p.H752H,DAG1:NM_001177644:exon3:c.C2256T:p.H752H,DAG1:NM_004393:exon3:c.C2256T:p.H752H,DAG1:NM_001177635:exon4:c.C2256T:p.H752H,DAG1:NM_001177637:exon4:c.C2256T:p.H752H,DAG1:NM_001177638:exon4:c.C2256T:p.H752H,DAG1:NM_001177640:exon4:c.C2256T:p.H752H,DAG1:NM_001177641:exon4:c.C2256T:p.H752H,DAG1:NM_001177642:exon4:c.C2256T:p.H752H,DAG1:NM_001177636:exon5:c.C2256T:p.H752H,DAG1:NM_001165928:exon6:c.C2256T:p.H752H,DAG1:NM_001177634:exon6:c.C2256T:p.H752H exonic ENSG00000173402 NA synonymous SNV ENSG00000173402:ENST00000308775:exon3:c.C2256T:p.H752H,ENSG00000173402:ENST00000515359:exon3:c.C2256T:p.H752H,ENSG00000173402:ENST00000539901:exon3:c.C2256T:p.H752H,ENSG00000173402:ENST00000538711:exon4:c.C2256T:p.H752H,ENSG00000173402:ENST00000541308:exon4:c.C2256T:p.H752H,ENSG00000173402:ENST00000545947:exon6:c.C2256T:p.H752H Score=431;Name=lod=75 NA 3p21.31 Score=847;Name=V$GR_Q6 NA NA NA rs1801143 0.25 0.25 0.239 0.215855 0.333 0.0724 0.1744 0.2693 0.2004 0.34 0.09 0.23 0.32 0.2775 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654963 NA NA 0.313837 0.289605 NA 0.283 CLINSIG=untested|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=not|single;CLNACC=RCV000024446.1|RCV000116863.2;CLNDSDB=.|.;CLNDSDBID=.|. 7.7423296 878 16 56396486 56396486 C T UTR3 AMFR NM_001144:c.*335G>A NA NA UTR3 ENSG00000159461 ENST00000290649:c.*335G>A,ENST00000492830:c.*335G>A NA NA NA NA 16q12.2 NA Name=Egr-1 NA NA rs4924 0.57 0.57 0.604 0.598842 0.5268 0.4435 0.5173 0.7935 0.6278 0.53 0.46 0.51 0.78 0.5446 0.78 0 D . . . . . . 1.000 P . . . . -1.026 T 0.000 T . 0.563 7.044 -6.95 -1.542 -0.638 7.518 0.563027 NA 0 0.521095 0.743721 NA 0.659 NA 7.7408384 878 6 29141849 29141849 T C exonic OR2J2 NA nonsynonymous SNV OR2J2:NM_030905:exon1:c.T437C:p.V146A exonic ENSG00000204700 NA nonsynonymous SNV ENSG00000204700:ENST00000377167:exon1:c.T437C:p.V146A Score=278;Name=lod=18 NA 6p22.1 NA NA NA NA rs3116856 0.4 0.4 0.359 0.377995 0.5477 0.378 0.451 0.112 0.5112 0.58 0.37 0.46 0.12 0.5059 0.58 1 T . . . . . . 1.000 P . . 1.1 T -0.976 T 0.014 T 0.039 -2.819 0 2.3 0.290 -0.161 7.973 -2.819406 NA 1 0.540868 0.187094 NA 0.341 NA 7.7388654 878 17 42248346 42248346 A T exonic ASB16 NA nonsynonymous SNV ASB16:NM_080863:exon1:c.A189T:p.Q63H exonic ENSG00000161664 NA nonsynonymous SNV ENSG00000161664:ENST00000293414:exon1:c.A189T:p.Q63H,ENSG00000161664:ENST00000589618:exon1:c.A189T:p.Q63H Score=443;Name=lod=84 NA 17q21.31 Score=791;Name=V$HEN1_01 NA NA NA rs7218599 0.93 0.93 0.927 0.926518 0.8539 0.9881 0.928 0.9917 0.8487 0.87 0.98 0.91 0.99 0.8813 0.99 0.55 T 0.0 B 0.0 B 0.000 N 1.000 P 0.69 N 0.63 T -0.992 T 0.000 T 0.066 2.353 13.83 3.06 0.128 -0.067 4.073 2.353447 2.353447 NA 0.86 0.973672 ID=COSM436689;OCCURENCE=1(breast) 0.942 NA 7.7381334 878 1 152280032 152280032 T C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.A7330G:p.K2444E exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.A7330G:p.K2444E NA NA 1q21.3 NA NA NA NA rs71625200 0.27 0.27 0.233 0.343051 0.171 0.6071 0.4222 0.1218 0.4908 0.14 0.56 0.3 0.1 0.2608 0.56 1 T 0.0 B 0.0 B . . 1.000 P -2.535 N 4.71 T -1.010 T 0.000 T 0.027 0.652 7.499 2.1 0.313 -0.889 3.985 0.652241 NA 1 0.163643 0.135951 NA 0.181 NA 7.7378904 878 19 35449760 35449760 G C exonic ZNF792 NA synonymous SNV ZNF792:NM_175872:exon4:c.C999G:p.T333T exonic ENSG00000180884 NA synonymous SNV ENSG00000180884:ENST00000605484:exon2:c.C798G:p.T266T,ENSG00000180884:ENST00000404801:exon4:c.C999G:p.T333T Score=419;Name=lod=67 NA 19q13.11 NA Name=SETDB1 Name=12 NA rs2651080 0.3 0.3 0.332 0.322484 0.33 0.2034 0.1844 0.4652 0.3425 0.34 0.21 0.22 0.43 0.3033 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116642 NA NA 0.295581 0.418747 NA 0.254 NA 7.7377856 878 1 152277055 152277055 C G exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G10307C:p.G3436A exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G10307C:p.G3436A NA NA 1q21.3 NA NA NA NA rs2065955 0.43 0.43 0.43 0.514177 0.1481 0.6349 0.4481 0.7882 0.4427 0.15 0.6 0.38 0.72 0.2987 0.72 0.47 T 0.876 P 0.748 P . . 1.000 P 1.79 L 3.22 T -1.019 T 0.013 T 0.064 -0.036 3.831 -1.14 -0.563 -0.597 3.043 -0.035729 NA 0.05 0.150465 0.684748 NA 0.152 NA 7.7360684 878 7 77035392 77035392 T C exonic GSAP NA nonsynonymous SNV GSAP:NM_017439:exon2:c.A140G:p.H47R exonic ENSG00000186088 NA nonsynonymous SNV ENSG00000186088:ENST00000257626:exon2:c.A140G:p.H47R Score=523;Name=lod=178 NA 7q11.23 Score=801;Name=V$HTF_01 NA NA NA rs6949654 0.9 0.9 0.91 0.912939 0.8579 0.9226 0.8847 0.9841 0.8834 0.85 0.9 0.88 0.98 0.8767 0.98 1 T 0.0 B 0.0 B 0.056 N 0.000 P -1.995 N 2.54 T -1.000 T 0.000 T 0.055 -1.36 0.027 3.65 0.787 0.090 7.812 -1.360068 NA 0 0.863339 0.963855 NA 0.913 NA 7.7353944 879 14 103986255 103986255 C T exonic CKB NA synonymous SNV CKB:NM_001823:exon8:c.G1092A:p.E364E exonic ENSG00000166165 NA synonymous SNV ENSG00000166165:ENST00000553610:exon4:c.G486A:p.E162E,ENSG00000166165:ENST00000348956:exon8:c.G1092A:p.E364E Score=611;Name=lod=406 NA 14q32.32 Score=784;Name=V$COMP1_01 Name=SP1 Name=15 NA rs1803283 0.64 0.64 0.589 0.638978 0.6421 0.8224 0.7334 0.4312 0.6605 0.64 0.81 0.7 0.41 0.6598 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.202495 NA NA 0.630147 0.493642 NA 0.645 NA 7.7346196 879 21 47787002 47787002 T C exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon15:c.T3113C:p.V1038A exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon15:c.T3113C:p.V1038A NA NA 21q22.3 NA NA NA NA rs6518289 0.85 0.85 0.863 0.83766 0.8708 0.8006 0.8156 0.8911 0.7853 0.87 0.79 0.86 0.9 0.853 0.9 1 T 0.0 B 0.0 B 0.002 N 1.000 P 0 N 4.79 T -0.932 T 0.000 T 0.046 0.732 7.888 -9.48 -2.268 -0.987 2.278 0.731685 NA 0.52 0.875233 0.89832 NA 0.841 NA 7.7343004 879 1 152279920 152279920 A G exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.T7442C:p.L2481S exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T7442C:p.L2481S NA NA 1q21.3 NA NA NA NA rs55650366 0.31 0.31 0.254 0.342452 0.171 0.6071 0.4207 0.1203 0.4908 0.17 0.62 0.35 0.14 0.2608 0.62 1 T 0.0 B 0.0 B . . 1.000 P -2.625 N 5.58 T -1.020 T 0.000 T 0.064 0.475 6.576 -1.66 -0.883 -1.345 4.593 0.474569 NA 0.8 0.167674 0.137994 NA 0.21 NA 7.7338594 879 19 20807352 20807352 C T exonic ZNF626 NA nonsynonymous SNV ZNF626:NM_001076675:exon4:c.G1331A:p.R444K exonic ENSG00000188171 NA nonsynonymous SNV ENSG00000188171:ENST00000601440:exon4:c.G1331A:p.R444K Score=389;Name=lod=51 NA 19p12 NA NA NA NA rs62107361 0.79 0.79 0.724 0.780551 0.8936 0.8413 0.8804 0.5802 0.8016 0.87 0.83 0.89 0.57 0.8346 0.89 1 T 0.0 B 0.002 B . . 0.000 P 0.02 N . . -0.944 T 0.000 T 0.009 -3.172 0.001 -0.477 -1.581 -4.105 2.727 -3.171696 NA 1 0.871301 0.634141 NA 0.036 NA 7.7338324 879 2 133541454 133541454 A G exonic NCKAP5 NA nonsynonymous SNV NCKAP5:NM_207363:exon14:c.T2930C:p.I977T exonic ENSG00000176771 NA nonsynonymous SNV ENSG00000176771:ENST00000317721:exon12:c.T2930C:p.I977T,ENSG00000176771:ENST00000409261:exon14:c.T2930C:p.I977T NA NA 2q21.2 NA NA NA NA rs12691830 0.7 0.7 0.696 0.704872 0.493 0.871 0.6657 0.8328 0.6063 0.49 0.89 0.63 0.83 0.591 0.89 0.79 T 0.0 B 0.0 B 0.216 N 0.123 P -0.345 N 3.01 T -1.029 T 0.000 T 0.002 -1.194 0.075 4.16 0.727 1.847 10.811 -1.193811 NA 0.7 0.516585 0.802708 ID=COSM1399445;OCCURENCE=1(large_intestine) 0.739 NA 7.7327484 879 12 6030405 6030405 A G exonic ANO2 NA nonsynonymous SNV ANO2:NM_020373:exon3:c.T323C:p.V108A exonic ENSG00000047617 NA nonsynonymous SNV ENSG00000047617:ENST00000327087:exon3:c.T323C:p.V108A,ENSG00000047617:ENST00000356134:exon3:c.T323C:p.V108A,ENSG00000047617:ENST00000546188:exon3:c.T323C:p.V108A NA NA 12p13.31 Score=942;Name=V$AREB6_03 NA NA NA rs3741903 0.16 0.16 0.132 0.15655 0.2167 0.1915 0.1441 0.0386 0.227 0.22 0.18 0.17 0.03 0.1811 0.22 1 T 0.0 B 0.0 B 0.313 N 1.000 P -0.6 N -0.22 T -1.062 T 0.000 T 0.035 -2.586 0 1.37 -0.076 0.524 7.122 -2.586289 NA 1 0.203933 0.070943 NA 0.145 NA 7.7316004 879 9 86284178 86284178 C A exonic UBQLN1 NA synonymous SNV UBQLN1:NM_013438:exon7:c.G1170T:p.L390L,UBQLN1:NM_053067:exon7:c.G1170T:p.L390L exonic ENSG00000135018 NA synonymous SNV ENSG00000135018:ENST00000257468:exon7:c.G1170T:p.L390L,ENSG00000135018:ENST00000376395:exon7:c.G1170T:p.L390L Score=703;Name=lod=960 NA 9q21.32 NA Name=CTCF Name=18 NA rs1044175 0.75 0.75 0.766 0.76897 0.6203 0.8819 0.7104 0.857 0.728 0.61 0.87 0.73 0.83 0.6887 0.87 . . . . . . . . 0.000 P . . . . . . . . . 1.149 9.68 1.98 -0.141 0.900 5.881 1.148963 NA NA 0.626628 0.833409 ID=COSM1463297;OCCURENCE=1(large_intestine) 0.761 NA 7.7310386 879 19 4511647 4511647 C G exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G2283C:p.K761N exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.G2283C:p.K761N NA NA 19p13.3 NA NA NA NA rs7256387 0.83 0.83 0.788 0.841853 0.8787 0.9752 0.8458 0.6702 0.8957 0.84 0.95 0.88 0.62 0.8443 0.95 1 T 0.0 B 0.0 B 0.550 N 1.000 P -2.705 N 3.47 T -0.876 T 0.000 T 0.019 -1.271 0.045 -9.38 -1.812 -4.807 4.625 -1.270695 NA 1 0.87938 0.701733 NA 0.688 NA 7.7309534 879 19 57326970 57326970 T C exonic PEG3 NA nonsynonymous SNV PEG3:NM_001146186:exon7:c.A2840G:p.N947S,PEG3:NM_001146184:exon9:c.A2840G:p.N947S,PEG3:NM_001146185:exon9:c.A2462G:p.N821S,PEG3:NM_001146187:exon9:c.A2468G:p.N823S,PEG3:NM_006210:exon10:c.A2840G:p.N947S exonic ENSG00000198300 NA nonsynonymous SNV ENSG00000198300:ENST00000599534:exon7:c.A2840G:p.N947S,ENSG00000198300:ENST00000423103:exon9:c.A2840G:p.N947S,ENSG00000198300:ENST00000593695:exon9:c.A2462G:p.N821S,ENSG00000198300:ENST00000598410:exon9:c.A2468G:p.N823S,ENSG00000198300:ENST00000599577:exon9:c.A2840G:p.N947S,ENSG00000198300:ENST00000326441:exon10:c.A2840G:p.N947S NA NA 19q13.43 NA NA NA NA rs35851866 0.02 0.02 0.013 0.0159744 0.0447 0.001 0.0331 0.0008 0.0102 0.04 NA 0.03 0.002 0.022 0.04 0.45 T 0.495 P 0.15 B 0.315 N . . 1.67 L 4.26 T -0.978 T 0.002 T 0.011 -0.44 1.955 1.46 0.248 -0.293 3.216 -0.440172 NA 0.24 0.035698 0.006355 NA 0.007 NA 7.7309354 879 1 39835817 39835817 A G exonic MACF1 NA nonsynonymous SNV MACF1:NM_012090:exon47:c.A6868G:p.M2290V exonic ENSG00000127603 NA nonsynonymous SNV ENSG00000127603:ENST00000289893:exon15:c.A8374G:p.M2792V,ENSG00000127603:ENST00000317713:exon45:c.A6868G:p.M2290V,ENSG00000127603:ENST00000361689:exon45:c.A6868G:p.M2290V,ENSG00000127603:ENST00000539005:exon45:c.A6868G:p.M2290V,ENSG00000127603:ENST00000545844:exon46:c.A6868G:p.M2290V,ENSG00000127603:ENST00000372915:exon50:c.A13069G:p.M4357V,ENSG00000127603:ENST00000564288:exon51:c.A13054G:p.M4352V,ENSG00000127603:ENST00000567887:exon51:c.A13165G:p.M4389V Score=472;Name=lod=111 NA 1p34.3 NA NA NA NA rs2296172 0.15 0.15 0.13 0.118211 0.1948 0.1587 0.2046 0.0121 0.0798 0.19 0.16 0.21 0.02 0.1853 0.22 0.92 T 0.0 B 0.002 B 0.556 N 0.000 P -0.205 N 1.43 T -0.968 T 0.000 T 0.12 -0.527 1.6 0.348 0.021 0.193 0.222 -0.526671 NA 0.34 0.22314 0.044031 NA 0.109 NA 7.7300934 879 1 67685387 67685387 T C exonic IL23R NA nonsynonymous SNV IL23R:NM_144701:exon7:c.T929C:p.L310P exonic ENSG00000162594 NA nonsynonymous SNV ENSG00000162594:ENST00000395227:exon2:c.T164C:p.L55P,ENSG00000162594:ENST00000347310:exon7:c.T929C:p.L310P,ENSG00000162594:ENST00000371002:exon7:c.T929C:p.L310P NA NA 1p31.3 NA NA NA NA rs7530511 0.87 0.87 0.854 0.875998 0.8569 0.9871 0.8501 0.7632 0.9519 0.85 0.98 0.87 0.77 0.8776 0.98 1 T 0.0 B 0.0 B 0.012 N 1.000 P -1.04 N 0.61 T -1.067 T 0.044 T 0.413 -2.122 0.005 4.88 1.392 2.350 10.070 -2.122214 NA 0.41 0.870465 0.762823 NA 0.899 NA 7.7283684 879 17 3628362 3628362 T C exonic GSG2 NA nonsynonymous SNV GSG2:NM_031965:exon1:c.T1133C:p.V378A exonic ENSG00000177602 NA nonsynonymous SNV ENSG00000177602:ENST00000325418:exon1:c.T1133C:p.V378A NA NA 17p13.2 NA Name=ZNF263 NA NA rs3809806 0.5 0.5 0.54 0.53135 0.5477 0.3353 0.3473 0.6838 0.6411 0.55 0.34 0.39 0.68 0.5145 0.68 0 D 0.0 B 0.0 B 0.470 N 1.000 P -0.55 N 3.47 T -0.977 T 0.000 T 0.006 -0.61 1.283 0.989 -0.105 -0.223 4.249 -0.609872 NA 1 0.543488 0.637086 ID=COSM1128744;OCCURENCE=1(prostate) 0.522 NA 7.7276454 879 3 46620614 46620614 T C exonic TDGF1 NA nonsynonymous SNV TDGF1:NM_001174136:exon2:c.T17C:p.V6A,TDGF1:NM_003212:exon2:c.T65C:p.V22A exonic ENSG00000241186 NA nonsynonymous SNV ENSG00000241186:ENST00000296145:exon2:c.T65C:p.V22A,ENSG00000241186:ENST00000542931:exon2:c.T17C:p.V6A NA NA 3p21.31 NA Name=RXRA,p300,FOXA2_(SC-6554),FOXA1_(SC-101058),TCF4,FOXA1_(C-20) Name=27 NA rs11130097 0.47 0.47 0.443 0.506989 0.5497 0.4157 0.4942 0.4887 0.591 0.54 0.4 0.5 0.42 0.5243 0.54 1 T 0.0 B 0.0 B 0.277 N 1.000 P -1.155 N 0.23 T -0.925 T 0.000 T 0.036 -2.153 0.005 1.43 0.064 -0.226 6.691 -2.153231 NA 1 0.532093 0.487971 NA 0.406 NA 7.7272404 880 5 38370537 38370537 T C exonic EGFLAM NA nonsynonymous SNV EGFLAM:NM_001205301:exon6:c.T685C:p.W229R,EGFLAM:NM_152403:exon6:c.T685C:p.W229R exonic ENSG00000164318 NA nonsynonymous SNV ENSG00000164318:ENST00000322350:exon6:c.T685C:p.W229R,ENSG00000164318:ENST00000354891:exon6:c.T685C:p.W229R NA NA 5p13.2 NA NA NA NA rs1465567 0.26 0.26 0.254 0.257188 0.2038 0.1796 0.1354 0.4372 0.2352 0.2 0.21 0.16 0.49 0.2117 0.49 0.88 T 0.0 B 0.0 B 0.018 N 1.000 P -0.735 N 0.68 T -0.977 T 0.000 T 0.016 0.573 7.093 -2.02 -0.389 -0.353 5.516 0.572574 NA 0.95 0.193372 0.396278 ID=COSM149818;OCCURENCE=1(stomach) 0.203 NA 7.7244614 880 7 89861890 89861890 G T exonic STEAP2 NA nonsynonymous SNV STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I exonic ENSG00000157214 NA nonsynonymous SNV ENSG00000157214:ENST00000287908:exon5:c.G1425T:p.M475I,ENSG00000157214:ENST00000394621:exon6:c.G1425T:p.M475I,ENSG00000157214:ENST00000394622:exon6:c.G1425T:p.M475I NA NA 7q21.13 NA Name=p300 Name=13 NA rs194525 0.93 0.93 0.929 0.944089 0.8708 0.999 0.8991 0.9675 0.9632 0.88 1 0.89 0.98 0.8932 1 0.41 T 0.0 B 0.001 B 0.728 N 1.000 P 0 N 3.61 T -0.994 T 0.000 T 0.065 -0.01 3.963 3.79 0.427 0.407 7.652 -0.009885 NA 0.55 0.846673 0.947798 NA 0.92 NA 7.7226604 880 13 111358000 111358000 T G intronic CARS2 NA NA NA exonic ENSG00000134905 NA nonsynonymous SNV ENSG00000134905:ENST00000542709:exon1:c.A116C:p.N39T NA NA 13q34 NA Name=PAX5-C20 NA NA rs9521906 0.13 0.13 0.121 0.0920527 0.2256 0.0804 0.1052 0.0182 0.0573 0.23 0.09 0.12 0.03 0.2191 0.23 . . . . . . . . 1.000 P . . . . -0.999 T 0.000 T 0.035 0.363 5.972 -2.62 -0.491 -0.030 3.035 0.363289 NA NA NA NA NA 0.13 NA 7.7219667 880 2 39050141 39050141 A C exonic DHX57 NA synonymous SNV DHX57:NM_198963:exon17:c.T3285G:p.S1095S exonic ENSG00000163214 NA synonymous SNV ENSG00000163214:ENST00000295373:exon17:c.T3285G:p.S1095S Score=625;Name=lod=462 NA 2p22.1 NA NA NA NA rs3770681 0.62 0.62 0.58 0.599241 0.66 0.8046 0.5836 0.3306 0.6994 0.67 0.81 0.6 0.33 0.6356 0.81 0.02 D . . . . 0.000 D 0.000 P . . 1.36 T -1.066 T 0.000 T . 1.103 9.5 1.79 0.381 0.123 4.177 1.102961 NA NA 0.649535 0.374943 NA 0.486 NA 7.7215316 880 22 31342376 31342376 G C exonic MORC2 NA synonymous SNV MORC2:NM_014941:exon7:c.C192G:p.T64T exonic ENSG00000133422 NA synonymous SNV ENSG00000133422:ENST00000397641:exon6:c.C378G:p.T126T,ENSG00000133422:ENST00000215862:exon7:c.C192G:p.T64T Score=614;Name=lod=418 NA 22q12.2 Score=948;Name=V$P53_02 NA Name=3 NA rs2072132 0.37 0.37 0.346 0.352436 0.3091 0.6498 0.3271 0.2095 0.3016 0.3 0.59 0.36 0.24 0.3193 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089202 NA NA 0.317442 0.246482 NA 0.312 NA 7.7208246 880 1 59125683 59125683 C T exonic MYSM1 NA nonsynonymous SNV MYSM1:NM_001085487:exon20:c.G2473A:p.E825K exonic ENSG00000162601 NA nonsynonymous SNV ENSG00000162601:ENST00000472487:exon20:c.G2473A:p.E825K NA NA 1p32.1 NA NA NA NA rs232777 0.26 0.26 0.247 0.302516 0.2018 0.2143 0.2666 0.4599 0.3098 0.21 0.2 0.23 0.43 0.2409 0.43 0.01 D 0.005 B 0.006 B 0.692 N 1.000 P 1.39 L 1.73 T -0.937 T 0.000 T 0.118 2.866 15.55 1.26 0.413 0.117 3.864 2.86596 2.86596 NA 0.171415 0.389474 ID=COSM146527;OCCURENCE=1(stomach) 0.232 NA 7.7192184 880 21 38568009 38568009 G C exonic TTC3 NA nonsynonymous SNV TTC3:NM_001001894:exon42:c.G5251C:p.D1751H,TTC3:NM_003316:exon42:c.G5251C:p.D1751H exonic ENSG00000182670 NA nonsynonymous SNV ENSG00000182670:ENST00000354749:exon41:c.G5251C:p.D1751H,ENSG00000182670:ENST00000355666:exon42:c.G5251C:p.D1751H,ENSG00000182670:ENST00000399017:exon42:c.G5251C:p.D1751H NA NA 21q22.13 NA NA NA NA rs1053966 0.72 0.72 0.712 0.738419 0.5129 0.8492 0.7334 0.9024 0.638 0.51 0.85 0.71 0.91 0.6068 0.91 0.39 T 0.0 B 0.0 B 0.299 N 1.000 P -1.59 N 3.13 T -1.016 T 0.000 T 0.322 -0.966 0.314 2.82 0.145 -2.243 7.643 -0.96611 NA 1 0.494767 0.843168 NA 0.761 NA 7.7188664 880 1 145562087 145562087 G A exonic ANKRD35 NA nonsynonymous SNV ANKRD35:NM_144698:exon10:c.G1775A:p.R592Q exonic ENSG00000198483 NA nonsynonymous SNV ENSG00000198483:ENST00000355594:exon10:c.G1775A:p.R592Q NA NA 1q21.1 NA NA NA NA rs41315701 0.14 0.14 0.121 0.123602 0.2117 0.1319 0.111 0.0129 0.183 0.22 0.17 0.12 0.02 0.1776 0.23 0.44 T 0.003 B 0.001 B 0.547 N 1.000 P 0.805 L 0.92 T -1.001 T 0.022 T 0.016 -0.052 3.749 0.923 0.014 1.200 4.291 -0.052032 NA 0.1 0.227844 0.052429 NA 0.174 NA 7.7161894 880 2 160112881 160112881 G T exonic WDSUB1 NA nonsynonymous SNV WDSUB1:NM_001128212:exon9:c.C958A:p.R320S,WDSUB1:NM_001128213:exon9:c.C958A:p.R320S,WDSUB1:NM_152528:exon9:c.C958A:p.R320S exonic ENSG00000196151 NA nonsynonymous SNV ENSG00000196151:ENST00000358147:exon5:c.C682A:p.R228S,ENSG00000196151:ENST00000359774:exon9:c.C958A:p.R320S,ENSG00000196151:ENST00000392796:exon9:c.C958A:p.R320S,ENSG00000196151:ENST00000409124:exon9:c.C958A:p.R320S,ENSG00000196151:ENST00000409990:exon9:c.C958A:p.R320S NA NA 2q24.2 NA NA Name=54 NA rs7591849 0.5 0.5 0.546 0.473642 0.5398 0.2738 0.3689 0.7421 0.3231 0.54 0.29 0.42 0.73 0.5046 0.73 0.76 T 0.0 B 0.0 B 0.049 N 1.000 P -0.17 N 0.66 T -0.947 T 0.000 T 0.099 1.568 11.2 4.37 0.378 0.383 6.652 1.568119 1.568119 0.76 0.573372 0.717885 ID=COSM148963;OCCURENCE=1(stomach) 0.58 NA 7.7155614 881 11 67372477 67372477 G T intergenic GSTP1,NDUFV1 dist=18353;dist=1846 NA NA exonic ENSG00000184224 NA nonsynonymous SNV ENSG00000184224:ENST00000446232:exon2:c.C64A:p.P22T,ENSG00000184224:ENST00000333139:exon3:c.C64A:p.P22T NA NA 11q13.2 NA NA NA NA rs12421329 0.33 0.33 0.306 0.323283 0.3767 0.1935 0.5202 0.326 0.2587 0.37 0.19 0.49 0.31 0.3735 0.49 0 D 0.914 P 0.752 P . . . . . . 0.44 T -0.965 T 0.000 T 0.172 1.239 10.03 -0.956 -0.187 -1.125 3.140 1.238781 1.238781 NA 0.369702 0.323409 NA 0.341 NA 7.7134314 881 2 70188676 70188676 T C exonic ASPRV1 NA nonsynonymous SNV ASPRV1:NM_152792:exon1:c.A145G:p.T49A exonic ENSG00000244617 NA nonsynonymous SNV ENSG00000244617:ENST00000320256:exon1:c.A145G:p.T49A NA NA 2p13.3 NA NA NA NA rs3796097 0.67 0.67 0.653 0.698083 0.503 0.6815 0.7421 0.9145 0.592 0.5 0.65 0.7 0.91 0.5972 0.91 0.32 T 0.002 B 0.001 B 0.977 N 1.000 P 0 N 0.95 T -1.018 T 0.000 T 0.01 -0.385 2.19 -4.7 -1.206 -0.869 11.871 -0.385484 NA 0.49 0.52093 0.847254 NA 0.761 NA 7.7122034 881 4 123229132 123229132 C T exonic KIAA1109 NA synonymous SNV KIAA1109:NM_015312:exon56:c.C9870T:p.A3290A exonic ENSG00000138688 NA synonymous SNV ENSG00000138688:ENST00000388738:exon56:c.C9870T:p.A3290A,ENSG00000138688:ENST00000455637:exon56:c.C9870T:p.A3290A,ENSG00000138688:ENST00000264501:exon58:c.C9870T:p.A3290A Score=670;Name=lod=706 NA 4q27 NA NA NA NA rs7688384 0.26 0.26 0.236 0.277157 0.3072 0.3611 0.3084 0.0333 0.4673 0.32 0.35 0.31 0.04 0.3233 0.35 . . . . . . . . 0.000 P . . . . -0.934 T 0.000 T . 1.079 9.403 4.74 0.503 -0.047 2.724 1.078547 NA NA 0.324872 0.082609 ID=COSM1131282;OCCURENCE=1(prostate) 0.188 NA 7.7112946 881 10 81317045 81317045 G T exonic SFTPA2 NA nonsynonymous SNV SFTPA2:NM_001098668:exon6:c.C667A:p.Q223K exonic ENSG00000185303 NA nonsynonymous SNV ENSG00000185303:ENST00000372327:exon5:c.C667A:p.Q223K,ENSG00000185303:ENST00000372325:exon6:c.C667A:p.Q223K NA NA 10q22.3 NA NA NA NA rs1965708 0.23 0.23 0.201 0.254792 0.2018 0.2024 0.1383 0.3964 0.2546 0.2 0.2 0.15 0.39 0.2216 0.39 0.69 T 0.0 B 0.001 B 0.679 N 1.000 P -0.75 N 2.26 T -0.903 T 0.000 T 0.034 -2.528 0.003 -3.22 -0.297 -0.559 10.681 -2.528253 NA 1 0.199953 0.357694 NA 0.275 NA 7.7099804 881 15 45695695 45695695 G A exonic SPATA5L1 NA synonymous SNV SPATA5L1:NM_024063:exon1:c.G1068A:p.R356R exonic ENSG00000171763 NA synonymous SNV ENSG00000171763:ENST00000305560:exon1:c.G1068A:p.R356R,ENSG00000171763:ENST00000531970:exon1:c.G1068A:p.R356R,ENSG00000171763:ENST00000559860:exon1:c.G1068A:p.R356R Score=393;Name=lod=53 NA 15q21.1 NA Name=Sin3Ak-20,HA-E2F1,HEY1,AP-2gamma,Pol2(phosphoS2),Pol2,YY1_(C-20),E2F6_(H-50),ETS1,TAF1,GABP,BAF155 Name=114 NA rs1153849 0.6 0.6 0.588 0.617812 0.2753 0.8145 0.5706 0.8676 0.4632 0.27 0.85 0.51 0.86 0.4195 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868165 NA NA 0.262917 0.746661 NA 0.442 NA 7.7089496 881 14 104559919 104559919 T C exonic ASPG NA nonsynonymous SNV ASPG:NM_001080464:exon3:c.T283C:p.C95R exonic ENSG00000166183 NA nonsynonymous SNV ENSG00000166183:ENST00000455920:exon3:c.T283C:p.C95R,ENSG00000166183:ENST00000546892:exon3:c.T283C:p.C95R,ENSG00000166183:ENST00000551177:exon3:c.T283C:p.C95R NA NA 14q32.33 NA NA NA NA rs1770984 0.4 0.4 0.385 0.41274 0.1809 0.3869 0.3314 0.6823 0.3712 0.19 0.4 0.36 0.75 0.2736 0.75 1 T 0.0 B 0.0 B 0.064 N 1.000 P -1.47 N 2.22 T -1.004 T 0.000 T 0.456 -2.184 0.005 2.46 0.637 0.723 4.463 -2.183746 NA 1 0.169969 0.55077 NA 0.196 NA 7.7088644 881 14 38277999 38277999 C T intergenic FOXA1,SSTR1 dist=213674;dist=399205 NA NA exonic ENSG00000139865 NA nonsynonymous SNV ENSG00000139865:ENST00000267368:exon5:c.C419T:p.T140I,ENSG00000139865:ENST00000476979:exon6:c.C419T:p.T140I,ENSG00000139865:ENST00000382320:exon7:c.C659T:p.T220I,ENSG00000139865:ENST00000478811:exon7:c.C710T:p.T237I,ENSG00000139865:ENST00000553443:exon24:c.C4517T:p.T1506I Score=474;Name=lod=113 NA 14q21.1 NA NA NA NA rs4901284 0.26 0.26 0.215 0.293331 0.3857 0.0873 0.5058 0.143 0.4632 0.39 0.06 0.48 0.13 0.3598 0.48 0.25 T 0.0 B 0.002 B 0.622 N 1.000 P . . 0.32 T -0.931 T 0.000 T 0.037 -0.61 1.283 4.48 0.432 1.123 7.704 -0.609768 NA 0.64 0.379897 0.173261 NA 0.29 NA 7.7079364 881 3 158388780 158388780 T C exonic LXN NA nonsynonymous SNV LXN:NM_020169:exon2:c.A158G:p.H53R exonic ENSG00000079257 NA nonsynonymous SNV ENSG00000079257:ENST00000264265:exon2:c.A158G:p.H53R Score=497;Name=lod=139 NA 3q25.32 NA NA NA NA rs8455 0.54 0.54 0.542 0.576677 0.5437 0.3839 0.5288 0.7474 0.6125 0.56 0.38 0.53 0.73 0.5447 0.73 0.37 T 0.001 B 0.001 B 0.445 N 0.000 P 0.4 N 1.9 T -0.999 T 0.000 T 0.03 1.196 9.858 -2.53 -0.464 0.105 12.057 1.19562 NA 1 0.538193 0.702479 NA 0.551 NA 7.7067404 881 12 68720627 68720627 G A exonic MDM1 NA nonsynonymous SNV MDM1:NM_001205028:exon3:c.C308T:p.T103I,MDM1:NM_017440:exon3:c.C308T:p.T103I,MDM1:NM_020128:exon3:c.C308T:p.T103I exonic ENSG00000111554 NA nonsynonymous SNV ENSG00000111554:ENST00000303145:exon3:c.C308T:p.T103I,ENSG00000111554:ENST00000411698:exon3:c.C308T:p.T103I,ENSG00000111554:ENST00000430606:exon3:c.C308T:p.T103I,ENSG00000111554:ENST00000541686:exon3:c.C293T:p.T98I NA NA 12q15 NA NA Name=20 NA rs962976 0.68 0.68 0.677 0.67512 0.7187 0.4484 0.7378 0.8079 0.6401 0.71 0.47 0.75 0.81 0.6947 0.81 . . 0.967 D 0.6 P 0.208 N 1.000 P 0.69 N 1.89 T -1.035 T 0.000 T 0.145 1.874 12.22 0.256 0.077 -0.119 6.446 1.873951 1.873951 0.04 0.713721 0.785066 NA 0.659 NA 7.7062124 882 2 1460004 1460004 G T exonic TPO NA nonsynonymous SNV TPO:NM_175721:exon6:c.G769T:p.A257S,TPO:NM_175722:exon6:c.G769T:p.A257S,TPO:NM_000547:exon7:c.G769T:p.A257S,TPO:NM_001206744:exon7:c.G769T:p.A257S,TPO:NM_001206745:exon7:c.G769T:p.A257S,TPO:NM_175719:exon7:c.G769T:p.A257S exonic ENSG00000115705 NA nonsynonymous SNV ENSG00000115705:ENST00000422464:exon4:c.G556T:p.A186S,ENSG00000115705:ENST00000382198:exon6:c.G769T:p.A257S,ENSG00000115705:ENST00000329066:exon7:c.G769T:p.A257S,ENSG00000115705:ENST00000337415:exon7:c.G769T:p.A257S,ENSG00000115705:ENST00000345913:exon7:c.G769T:p.A257S,ENSG00000115705:ENST00000346956:exon7:c.G769T:p.A257S,ENSG00000115705:ENST00000349624:exon7:c.G769T:p.A257S,ENSG00000115705:ENST00000382201:exon7:c.G769T:p.A257S NA NA 2p25.3 NA NA NA NA rs4927611 0.33 0.33 0.322 0.365415 0.3668 0.1825 0.3674 0.3918 0.5153 0.37 0.18 0.37 0.41 0.3791 0.41 0.08 T 0.716 P 0.407 B 0.667 N 1.000 P 1.215 L -0.72 T -1.037 T 0.000 T 0.054 0.517 6.803 0.493 0.121 1.055 9.784 0.517173 NA 0.04 0.383953 0.376078 NA 0.341 NA 7.7034804 882 12 132335592 132335592 G A exonic MMP17 NA nonsynonymous SNV MMP17:NM_016155:exon10:c.G1585A:p.D529N exonic ENSG00000198598 NA nonsynonymous SNV ENSG00000198598:ENST00000535004:exon3:c.G205A:p.D69N,ENSG00000198598:ENST00000535291:exon9:c.G1333A:p.D445N,ENSG00000198598:ENST00000360564:exon10:c.G1585A:p.D529N NA NA 12q24.33 NA NA NA NA rs11835665 0.15 0.15 0.142 0.140974 0.2167 NA 0.2061 0.1785 0.1115 0.22 NA 0.24 0.18 0.1981 0.24 0.06 T 0.04 B 0.004 B 0.574 U 1.000 P 0 N 2.28 T -0.949 T 0.000 T 0.085 1.084 9.426 1.51 0.008 3.377 7.369 1.084275 NA 0.05 0.216197 0.179691 NA 0.116 NA 7.7023364 882 1 21797204 21797204 G C exonic NBPF3 NA nonsynonymous SNV NBPF3:NM_001256417:exon3:c.G213C:p.E71D,NBPF3:NM_001256416:exon4:c.G423C:p.E141D,NBPF3:NM_032264:exon4:c.G423C:p.E141D exonic ENSG00000142794 NA nonsynonymous SNV ENSG00000142794:ENST00000454000:exon3:c.G213C:p.E71D,ENSG00000142794:ENST00000318249:exon4:c.G423C:p.E141D,ENSG00000142794:ENST00000342104:exon4:c.G423C:p.E141D,ENSG00000142794:ENST00000318220:exon7:c.G255C:p.E85D,ENSG00000142794:ENST00000434838:exon8:c.G255C:p.E85D NA NA 1p36.12 NA NA NA NA rs72872292 0.05 0.05 0.039 0.0429313 0.0388 NA 0.0331 0.0983 0.0235 0.05 NA 0.04 0.1 0.043 0.1 0.19 T 0.672 P 0.201 B . . 1.000 N 0.255 N 4.08 T -0.892 T 0.000 T 0.112 0.276 5.493 0.278 0.104 0.874 3.495 0.276043 NA 0 0.049767 0.098275 NA 0.065 NA 7.7017664 882 10 135204950 135204950 C G exonic PAOX NA nonsynonymous SNV PAOX:NM_207128:exon6:c.C1369G:p.Q457E exonic ENSG00000148832 NA nonsynonymous SNV ENSG00000148832:ENST00000357296:exon6:c.C1369G:p.Q457E NA NA 10q26.3 Score=766;Name=V$HEN1_02 NA NA NA rs1046175 0.86 0.86 0.854 0.845048 0.8738 0.9792 0.8948 0.68 0.865 0.89 0.97 0.86 0.67 0.8826 0.97 1 T 0.0 B 0.001 B . . 1.000 P . . 0.92 T -0.950 T 0.000 T . -1.497 0.017 2.32 0.097 -1.219 7.504 -1.496625 NA 1 0.875669 0.736723 ID=COSM427291,COSM427292;OCCURENCE=1(breast) 0.855 NA 7.7012644 882 15 62202482 62202482 C T exonic VPS13C NA nonsynonymous SNV VPS13C:NM_017684:exon62:c.G8609A:p.S2870N,VPS13C:NM_018080:exon62:c.G8609A:p.S2870N,VPS13C:NM_001018088:exon64:c.G8738A:p.S2913N,VPS13C:NM_020821:exon64:c.G8738A:p.S2913N exonic ENSG00000129003 NA nonsynonymous SNV ENSG00000129003:ENST00000249837:exon62:c.G8609A:p.S2870N,ENSG00000129003:ENST00000395898:exon62:c.G8609A:p.S2870N,ENSG00000129003:ENST00000261517:exon64:c.G8738A:p.S2913N,ENSG00000129003:ENST00000395896:exon64:c.G8738A:p.S2913N Score=566;Name=lod=265 NA 15q22.2 NA NA NA NA rs10851704 0.54 0.54 0.512 0.516374 0.5517 0.4732 0.6671 0.4841 0.4611 0.56 0.49 0.64 0.49 0.5472 0.64 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.775 N 1.65 T -0.914 T 0.000 T 0.005 0.068 4.368 3.54 0.133 0.853 9.591 0.06792 NA 1 0.535233 0.498865 NA 0.101 NA 7.6992004 882 8 3265590 3265590 C T exonic CSMD1 NA synonymous SNV CSMD1:NM_033225:exon14:c.G1902A:p.Q634Q exonic ENSG00000183117 NA synonymous SNV ENSG00000183117:ENST00000537824:exon14:c.G1902A:p.Q634Q,ENSG00000183117:ENST00000539096:exon14:c.G1902A:p.Q634Q,ENSG00000183117:ENST00000542608:exon14:c.G1902A:p.Q634Q,ENSG00000183117:ENST00000400186:exon15:c.G1905A:p.Q635Q,ENSG00000183117:ENST00000520002:exon15:c.G1905A:p.Q635Q,ENSG00000183117:ENST00000602557:exon15:c.G1905A:p.Q635Q,ENSG00000183117:ENST00000602723:exon15:c.G1905A:p.Q635Q Score=541;Name=lod=210 NA 8p23.2 Score=834;Name=V$ISRE_01 NA NA NA rs10088378 0.6 0.6 0.617 0.603035 0.67 0.3383 0.6527 0.7027 0.637 0.66 0.36 0.68 0.73 0.6319 0.73 . . . . . . . . 0.000 P . . . . -0.967 T 0.000 T . -0.461 1.869 2.4 0.218 0.210 14.232 -0.460746 NA NA 0.667638 0.676532 NA 0.522 NA 7.6971286 883 2 11702661 11702661 A C exonic GREB1 NA nonsynonymous SNV GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T exonic ENSG00000196208 NA nonsynonymous SNV ENSG00000196208:ENST00000234142:exon2:c.A230C:p.N77T,ENSG00000196208:ENST00000263834:exon3:c.A230C:p.N77T,ENSG00000196208:ENST00000381483:exon3:c.A230C:p.N77T,ENSG00000196208:ENST00000381486:exon3:c.A230C:p.N77T NA NA 2p25.1 Score=953;Name=V$LYF1_01 NA NA NA rs10929757 0.42 0.42 0.372 0.415735 0.5427 0.5496 0.5144 0.0333 0.5941 0.57 0.52 0.47 0.06 0.5328 0.57 0.31 T 0.003 B 0.009 B 0.003 N 1.000 P 1.355 L 3.33 T -0.952 T 0.000 T 0.101 0.475 6.58 1.6 0.037 2.998 1.527 0.475366 NA 0.34 0.563372 0.13232 NA 0.471 NA 7.6944614 883 9 4576680 4576680 T C exonic SLC1A1 NA synonymous SNV SLC1A1:NM_004170:exon10:c.T1110C:p.T370T exonic ENSG00000106688 NA synonymous SNV ENSG00000106688:ENST00000262352:exon10:c.T1110C:p.T370T NA NA 9p24.2 NA NA NA NA rs301430 0.45 0.45 0.431 0.458267 0.328 0.5883 0.3833 0.5129 0.4376 0.33 0.61 0.39 0.49 0.3637 0.61 . . . . . . . . 0.000 P . . . . -1.002 T 0.000 T . -0.593 1.345 -11.1 -3.284 -6.163 1.972 -0.593042 NA NA 0.281163 0.496596 NA 0.384 NA 7.6938036 883 8 90995019 90995019 C T exonic NBN NA synonymous SNV NBN:NM_002485:exon2:c.G102A:p.L34L exonic ENSG00000104320 NA synonymous SNV ENSG00000104320:ENST00000265433:exon2:c.G102A:p.L34L,ENSG00000104320:ENST00000519426:exon2:c.G102A:p.L34L,ENSG00000104320:ENST00000523444:exon2:c.G102A:p.L34L,ENSG00000104320:ENST00000396252:exon4:c.G102A:p.L34L Score=475;Name=lod=114 NA 8q21.3 Score=832;Name=V$BRN2_01 NA Name=15 NA rs1063045 0.35 0.35 0.321 0.379193 0.3062 0.4673 0.3818 0.3124 0.4519 0.31 0.46 0.34 0.29 0.3527 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083831 NA NA 0.314651 0.310259 NA 0.37 NA 7.6931156 883 15 90126121 90126121 C T exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon2:c.C859T:p.R287C exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon2:c.C859T:p.R287C,ENSG00000140534:ENST00000560985:exon2:c.C859T:p.R287C Score=391;Name=lod=52 NA 15q26.1 NA NA NA NA rs10775247 0.42 0.42 0.394 0.386581 0.5616 0.3105 0.428 0.2383 0.456 0.56 0.35 0.48 0.24 0.512 0.57 0.67 T 0.004 B 0.0 B 0.008 N 0.951 P -1.87 N 2.68 T -1.014 T 0.000 T 0.121 0.509 6.761 -2.11 -0.528 0.373 7.220 0.509198 NA 0.7 0.567424 0.293557 NA 0.399 NA 7.6923094 883 1 157514091 157514091 C T exonic FCRL5 NA nonsynonymous SNV FCRL5:NM_001195388:exon5:c.G805A:p.V269I,FCRL5:NM_031281:exon5:c.G805A:p.V269I exonic ENSG00000143297 NA nonsynonymous SNV ENSG00000143297:ENST00000368191:exon4:c.G550A:p.V184I,ENSG00000143297:ENST00000356953:exon5:c.G805A:p.V269I,ENSG00000143297:ENST00000361835:exon5:c.G805A:p.V269I,ENSG00000143297:ENST00000368189:exon5:c.G805A:p.V269I,ENSG00000143297:ENST00000368190:exon5:c.G805A:p.V269I NA NA 1q23.1 NA NA NA NA rs12036228 0.21 0.21 0.207 0.197684 0.2376 0.0784 0.1729 0.295 0.1656 0.25 0.08 0.2 0.31 0.1923 0.31 0.58 T 0.217 B 0.103 B . . 1.000 P 0.6 N 2.7 T -0.912 T 0.007 T 0.055 0.587 7.167 -1.58 -0.792 -2.680 10.547 0.58688 NA 0.71 0.214186 0.293917 NA 0.217 NA 7.6892474 883 15 63351840 63351840 C A exonic TPM1 NA synonymous SNV TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A exonic ENSG00000140416 NA synonymous SNV ENSG00000140416:ENST00000558264:exon2:c.C75A:p.A25A,ENSG00000140416:ENST00000317516:exon3:c.C345A:p.A115A,ENSG00000140416:ENST00000334895:exon3:c.C345A:p.A115A,ENSG00000140416:ENST00000404484:exon3:c.C345A:p.A115A,ENSG00000140416:ENST00000559281:exon3:c.C345A:p.A115A,ENSG00000140416:ENST00000559831:exon3:c.C225A:p.A75A,ENSG00000140416:ENST00000560615:exon3:c.C75A:p.A25A,ENSG00000140416:ENST00000560959:exon3:c.C345A:p.A115A,ENSG00000140416:ENST00000267996:exon4:c.C453A:p.A151A,ENSG00000140416:ENST00000288398:exon4:c.C453A:p.A151A,ENSG00000140416:ENST00000358278:exon4:c.C453A:p.A151A,ENSG00000140416:ENST00000403994:exon4:c.C453A:p.A151A,ENSG00000140416:ENST00000559397:exon4:c.C453A:p.A151A,ENSG00000140416:ENST00000559556:exon4:c.C453A:p.A151A,ENSG00000140416:ENST00000357980:exon5:c.C579A:p.A193A Score=707;Name=lod=995 NA 15q22.2 Score=787;Name=V$CDPCR3_01 NA Name=5 NA rs1071646 0.7 0.7 0.697 0.705671 0.66 0.9504 0.5591 0.6112 0.7321 0.65 0.96 0.58 0.55 0.6737 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.398486 2.398486 NA 0.645814 0.615978 NA 0.71 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000024584.2|RCV000036332.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.6871526 884 3 167000256 167000256 G C exonic ZBBX NA nonsynonymous SNV ZBBX:NM_001199202:exon19:c.C1820G:p.A607G,ZBBX:NM_024687:exon19:c.C1907G:p.A636G,ZBBX:NM_001199201:exon20:c.C2024G:p.A675G exonic ENSG00000169064 NA nonsynonymous SNV ENSG00000169064:ENST00000392767:exon16:c.C1907G:p.A636G,ENSG00000169064:ENST00000307529:exon17:c.C2024G:p.A675G,ENSG00000169064:ENST00000392764:exon19:c.C1820G:p.A607G,ENSG00000169064:ENST00000392766:exon19:c.C1907G:p.A636G,ENSG00000169064:ENST00000455345:exon19:c.C2024G:p.A675G Score=352;Name=lod=36 NA 3q26.1 NA NA NA NA rs12638625 0.39 0.39 0.364 NA NA NA NA NA NA 0.29 0.65 0.38 0.27 0.3471 0.65 0.16 T 0.221 B 0.161 B 0.508 N 1.000 P 1.67 L 2.68 T -1.024 T 0.000 T 0.144 0.37 6.009 1.47 -0.014 0.491 4.429 0.370125 NA 0.08 0.301254 0.269929 NA 0.406 NA 7.6849794 884 1 15909850 15909850 C G exonic AGMAT NA nonsynonymous SNV AGMAT:NM_024758:exon2:c.G313C:p.G105R exonic ENSG00000116771 NA nonsynonymous SNV ENSG00000116771:ENST00000375826:exon2:c.G313C:p.G105R NA NA 1p36.21 Score=801;Name=V$COMP1_01 NA NA NA rs6429757 0.63 0.63 0.638 0.633187 0.5288 0.6359 0.5274 0.9017 0.4499 0.55 0.6 0.53 0.87 0.5669 0.87 1 T 0.0 B 0.001 B 0.000 N 0.020 P -1.535 N -1.9 D -0.981 T 0.000 T 0.044 -1.91 0.008 -1.41 -0.321 0.598 3.784 -1.909524 NA 1 0.552907 0.850885 NA 0.522 NA 7.6847264 884 2 239344412 239344412 C T exonic ASB1 NA synonymous SNV ASB1:NM_001040445:exon3:c.C252T:p.I84I exonic ENSG00000065802 NA nonsynonymous SNV ENSG00000065802:ENST00000438264:exon2:c.C110T:p.S37L Score=336;Name=lod=31 NA 2q37.3 Score=815;Name=V$CDPCR3_01 NA NA NA rs3191996 0.07 0.07 0.042 0.0513179 0.1203 0.0595 0.0389 0.003 0.046 0.12 0.06 0.04 0.002 0.0881 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.922466 1.922466 NA 0.109419 0.022015 ID=COSM442594;OCCURENCE=1(breast) 0.065 NA 7.682181 884 2 80801346 80801346 T C exonic CTNNA2 NA synonymous SNV CTNNA2:NM_001164883:exon13:c.T1800C:p.V600V,CTNNA2:NM_004389:exon13:c.T1800C:p.V600V exonic ENSG00000066032 NA synonymous SNV ENSG00000066032:ENST00000343114:exon7:c.T837C:p.V279V,ENSG00000066032:ENST00000402739:exon12:c.T1800C:p.V600V,ENSG00000066032:ENST00000540488:exon12:c.T1800C:p.V600V,ENSG00000066032:ENST00000541047:exon12:c.T1800C:p.V600V,ENSG00000066032:ENST00000361291:exon13:c.T1902C:p.V634V,ENSG00000066032:ENST00000496558:exon13:c.T1800C:p.V600V,ENSG00000066032:ENST00000466387:exon17:c.T1800C:p.V600V Score=518;Name=lod=170 NA 2p12 NA Name=PAX5-N19,PAX5-C20 Name=4 NA rs2228460 0.29 0.29 0.244 0.237021 0.3519 0.3403 0.4236 0.0477 0.136 0.34 0.35 0.4 0.05 0.2953 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.455386 1.455386 NA 0.337673 0.087477 NA 0.188 NA 7.6817936 884 1 205240251 205240251 C T exonic TMCC2 NA synonymous SNV TMCC2:NM_001242925:exon4:c.C1452T:p.Y484Y,TMCC2:NM_014858:exon4:c.C1686T:p.Y562Y exonic ENSG00000133069 NA synonymous SNV ENSG00000133069:ENST00000329800:exon3:c.C966T:p.Y322Y,ENSG00000133069:ENST00000330675:exon3:c.C1011T:p.Y337Y,ENSG00000133069:ENST00000358024:exon4:c.C1686T:p.Y562Y,ENSG00000133069:ENST00000545499:exon4:c.C1452T:p.Y484Y Score=556;Name=lod=243 NA 1q32.1 NA Name=STAT3,c-Jun,JunD,USF2,Max Name=96 NA rs1668867 0.21 0.21 0.221 0.161941 0.3549 0.0516 0.1931 0.1483 0.0736 0.36 0.05 0.24 0.14 0.2759 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41741 NA NA 0.355116 0.185429 NA 0.362 NA 7.6807506 884 11 125891269 125891269 C T exonic CDON NA nonsynonymous SNV CDON:NM_001243597:exon3:c.G223A:p.V75I,CDON:NM_016952:exon3:c.G223A:p.V75I exonic ENSG00000064309 NA nonsynonymous SNV ENSG00000064309:ENST00000263577:exon3:c.G223A:p.V75I,ENSG00000064309:ENST00000392693:exon3:c.G223A:p.V75I,ENSG00000064309:ENST00000527967:exon3:c.G223A:p.V75I,ENSG00000064309:ENST00000531586:exon3:c.G223A:p.V75I,ENSG00000064309:ENST00000534818:exon3:c.G223A:p.V75I NA NA 11q24.2 NA NA NA NA rs3740912 0.55 0.55 0.554 0.572284 0.5308 0.3452 0.5173 0.8563 0.5041 0.54 0.33 0.56 0.81 0.5573 0.81 0.91 T 0.001 B 0.012 B 0.321 N 1.000 P 0.38 N 1.08 T -0.960 T 0.000 T 0.115 -1.905 0.008 1.84 0.052 1.485 4.752 -1.905451 NA 1 0.564899 0.801908 ID=COSM147377;OCCURENCE=1(stomach) 0.522 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081795.1;CLNDSDB=.;CLNDSDBID=. 7.6803344 884 6 29408528 29408528 A G exonic OR10C1 NA nonsynonymous SNV OR10C1:NM_013941:exon1:c.A736G:p.M246V exonic ENSG00000206474 NA nonsynonymous SNV ENSG00000206474:ENST00000444197:exon1:c.A736G:p.M246V Score=329;Name=lod=29 NA 6p22.1 NA NA NA NA rs2074464 0.6 0.6 0.594 0.591653 0.5338 0.5774 0.5303 0.6346 0.6513 0.55 0.53 0.56 0.77 0.5705 0.77 1 T 0.0 B 0.0 B 0.003 N 0.000 P -3.48 N 9.15 T -1.041 T 0.000 T 0.083 -1.07 0.172 3.49 0.695 0.331 10.662 -1.070339 NA 1 0.549852 0.685308 NA 0.572 NA 7.6791814 884 10 85984323 85984323 G A exonic LRIT2 NA nonsynonymous SNV LRIT2:NM_001017924:exon2:c.C658T:p.L220F exonic ENSG00000204033 NA nonsynonymous SNV ENSG00000204033:ENST00000372113:exon2:c.C658T:p.L220F,ENSG00000204033:ENST00000538192:exon2:c.C658T:p.L220F NA NA 10q23.1 NA NA NA NA rs11200925 0.2 0.2 0.181 0.186901 0.2346 0.2907 0.232 0.0522 0.181 0.22 0.25 0.26 0.07 0.1966 0.26 0.19 T 0.003 B 0.002 B 0.001 N 1.000 P 1.525 L 0.59 T -1.056 T 0.000 T 0.013 1.949 12.48 -0.067 -0.264 4.488 2.747 1.949383 1.949383 0.18 0.224767 0.086019 NA 0.123 NA 7.6773664 885 7 75442730 75442730 T G exonic CCL24 NA nonsynonymous SNV CCL24:NM_002991:exon2:c.A85C:p.I29L exonic ENSG00000106178 NA nonsynonymous SNV ENSG00000106178:ENST00000222902:exon2:c.A85C:p.I29L,ENSG00000106178:ENST00000416943:exon3:c.A85C:p.I29L NA NA 7q11.23 NA NA Name=15 NA rs2302006 0.34 0.34 0.302 0.346046 0.1839 0.5595 0.4063 0.2685 0.3548 0.2 0.57 0.35 0.29 0.2748 0.57 0.52 T 0.004 B 0.01 B 0.496 N 1.000 P 1.135 L 3.84 T -0.977 T 0.000 T 0.054 0.424 6.304 -0.408 -0.058 0.260 9.527 0.424243 NA 0.49 0.200581 0.279165 NA 0.239 NA 7.6740524 885 1 27480757 27480757 A G exonic SLC9A1 NA synonymous SNV SLC9A1:NM_003047:exon1:c.T69C:p.V23V exonic ENSG00000090020 NA synonymous SNV ENSG00000090020:ENST00000263980:exon1:c.T69C:p.V23V,ENSG00000090020:ENST00000374086:exon1:c.T69C:p.V23V,ENSG00000090020:ENST00000374084:exon3:c.T69C:p.V23V NA NA 1p36.11 Score=858;Name=V$RFX1_02 Name=E2F6 Name=20 NA rs34306208 0.24 0.24 0.218 0.2498 0.332 0.1161 0.1902 0.2534 0.3405 0.35 0.1 0.22 0.26 0.3069 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814084 NA NA 0.355349 0.271221 NA 0.217 NA 7.6724176 885 1 206566904 206566904 T C exonic SRGAP2,SRGAP2B,SRGAP2C,SRGAP2D NA synonymous SNV SRGAP2D:NM_001271887:exon3:c.T246C:p.R82R exonic ENSG00000163486 NA synonymous SNV ENSG00000163486:ENST00000414007:exon3:c.T285C:p.R95R Score=545;Name=lod=218 NA 1q32.1 NA NA NA NA rs2919105 NA NA 0.312 0.494409 0.495 0.4851 0.4942 0.497 0.5 NA NA NA NA 0.4997 0.087 . . . . . . . . . . . . . . -0.830 T 0.132 T . 2.485 14.27 4.65 0.682 0.439 6.930 2.485071 2.485071 NA NA NA NA 0.109 NA 7.6719666 885 19 56719405 56719405 A C intergenic ZSCAN5B,ZSCAN5A dist=14984;dist=13274 NA NA exonic ENSG00000204532 NA nonsynonymous SNV ENSG00000204532:ENST00000376267:exon3:c.A591C:p.E197D,ENSG00000204532:ENST00000534327:exon4:c.A591C:p.E197D NA NA 19q13.43 NA NA NA NA rs12979551 0.6 0.6 0.606 0.564297 0.5746 0.5248 0.6441 0.7322 0.3108 0.58 0.53 0.62 0.73 0.5869 0.73 0.57 T . . . . . . 1.000 P . . 3.28 T -0.978 T 0.000 T 0.104 -1.852 0.009 -2.06 -3.054 -3.729 2.106 -1.851954 NA 0.63 NA NA NA 0.601 NA 7.6718334 885 4 156273768 156273768 T C exonic MAP9 NA nonsynonymous SNV MAP9:NM_001039580:exon13:c.A1801G:p.N601D exonic ENSG00000164114 NA nonsynonymous SNV ENSG00000164114:ENST00000311277:exon13:c.A1801G:p.N601D,ENSG00000164114:ENST00000515654:exon13:c.A1729G:p.N577D Score=601;Name=lod=370 NA 4q32.1 Score=806;Name=V$IRF7_01 NA NA NA rs2305050 0.67 0.67 0.681 0.654153 0.5557 0.7946 0.5346 0.7844 0.5194 0.57 0.8 0.53 0.78 0.5792 0.8 0.83 T 0.0 B 0.001 B 0.589 N 0.000 P -0.55 N 2.36 T -1.013 T 0.000 T 0.076 -0.22 2.934 0.287 -0.088 0.139 9.443 -0.220339 NA 1 0.527442 0.724569 NA 0.623 NA 7.6709914 885 1 16356501 16356501 G A exonic CLCNKA NA nonsynonymous SNV CLCNKA:NM_001257139:exon13:c.G1210A:p.A404T,CLCNKA:NM_001042704:exon14:c.G1339A:p.A447T,CLCNKA:NM_004070:exon14:c.G1339A:p.A447T exonic ENSG00000186510 NA nonsynonymous SNV ENSG00000186510:ENST00000439316:exon13:c.G1210A:p.A404T,ENSG00000186510:ENST00000331433:exon14:c.G1339A:p.A447T,ENSG00000186510:ENST00000420078:exon14:c.G1339A:p.A447T,ENSG00000186510:ENST00000375692:exon15:c.G1339A:p.A447T NA NA 1p36.13 Score=1000;Name=V$STAT6_02 NA NA NA rs1805152 0.63 0.63 0.64 0.648562 0.5577 0.7669 0.4467 0.7496 0.6268 0.55 0.75 0.48 0.74 0.5612 0.75 0.17 T 0.006 B 0.008 B 0.019 N 0.984 P 1.075 L -3.11 D -0.938 T 0.000 T 0.057 0.249 5.346 0.33 0.223 0.055 5.676 0.249091 NA 0.05 0.544302 0.712665 NA 0.696 NA 7.6701314 885 2 1520676 1520676 T C exonic TPO NA nonsynonymous SNV TPO:NM_175721:exon13:c.T2408C:p.V803A,TPO:NM_175722:exon13:c.T2021C:p.V674A,TPO:NM_001206745:exon14:c.T2369C:p.V790A,TPO:NM_175719:exon14:c.T2369C:p.V790A,TPO:NM_000547:exon15:c.T2540C:p.V847A,TPO:NM_001206744:exon15:c.T2540C:p.V847A exonic ENSG00000115705 NA nonsynonymous SNV ENSG00000115705:ENST00000425083:exon3:c.T203C:p.V68A,ENSG00000115705:ENST00000469607:exon5:c.T830C:p.V277A,ENSG00000115705:ENST00000422464:exon11:c.T2195C:p.V732A,ENSG00000115705:ENST00000382198:exon13:c.T2021C:p.V674A,ENSG00000115705:ENST00000346956:exon14:c.T2408C:p.V803A,ENSG00000115705:ENST00000349624:exon14:c.T2021C:p.V674A,ENSG00000115705:ENST00000382201:exon14:c.T2369C:p.V790A,ENSG00000115705:ENST00000329066:exon15:c.T2540C:p.V847A,ENSG00000115705:ENST00000337415:exon15:c.T2540C:p.V847A,ENSG00000115705:ENST00000345913:exon15:c.T2540C:p.V847A NA NA 2p25.3 NA NA NA NA rs1126799 0.61 0.61 0.629 0.663938 0.5417 0.5833 0.6037 0.8283 0.6933 0.52 0.6 0.58 0.79 0.5898 0.79 1 T 0.0 B 0.001 B 0.991 N 0.993 P -1.645 N 0.71 T -1.008 T 0.000 T 0.482 -1.961 0.007 4.6 1.364 0.609 8.858 -1.960539 NA 1 0.532326 0.771221 ID=COSM148793;OCCURENCE=1(stomach) 0.645 NA 7.6695074 885 14 39722023 39722023 G C exonic MIA2 NA nonsynonymous SNV MIA2:NM_054024:exon5:c.G1639C:p.D547H exonic ENSG00000150526 NA nonsynonymous SNV ENSG00000150526:ENST00000280082:exon5:c.G1639C:p.D547H NA NA 14q21.1 NA Name=TAL1_(SC-12984) NA NA rs10134365 0.31 0.31 0.315 0.310703 0.2127 0.502 0.2032 0.4039 0.1646 0.2 0.51 0.22 0.33 0.2422 0.51 . . 0.002 B 0.004 B 0.455 N 1.000 P . . 0.88 T -0.903 T 0.000 T 0.009 0.585 7.156 -0.683 0.295 0.925 4.261 0.584811 NA 0.03 0.209467 0.400136 NA 0.254 NA 7.6689664 885 20 1896059 1896059 G A exonic SIRPA NA nonsynonymous SNV SIRPA:NM_001040023:exon2:c.G394A:p.V132M,SIRPA:NM_001040022:exon3:c.G394A:p.V132M,SIRPA:NM_080792:exon3:c.G394A:p.V132M exonic ENSG00000198053 NA nonsynonymous SNV ENSG00000198053:ENST00000358771:exon2:c.G394A:p.V132M,ENSG00000198053:ENST00000356025:exon3:c.G394A:p.V132M,ENSG00000198053:ENST00000400068:exon3:c.G394A:p.V132M NA NA 20p13 NA NA NA NA rs115287948 NA NA 0.166 0.409345 0.3171 0.625 0.4222 0.2761 0.453 NA NA NA NA 0.3473 NA 0.24 T 0.188 B 0.084 B 0.008 N 1.000 P 0.835 L -0.13 T -0.960 T 0.156 T 0.175 1.059 9.326 -2.28 -0.198 -0.421 9.806 1.059262 NA 0.13 NA NA ID=COSM1410604;OCCURENCE=1(large_intestine) NA NA 7.6689334 885 9 39103743 39103743 C T exonic CNTNAP3 NA nonsynonymous SNV CNTNAP3:NM_033655:exon16:c.G2534A:p.R845H exonic ENSG00000106714 NA nonsynonymous SNV ENSG00000106714:ENST00000358144:exon14:c.G2270A:p.R757H,ENSG00000106714:ENST00000297668:exon16:c.G2534A:p.R845H,ENSG00000106714:ENST00000377656:exon16:c.G2531A:p.R844H NA NA 9p13.1 Score=825;Name=V$RFX1_01 NA NA NA rs7852039 0.2 0.2 0.179 0.186502 0.2376 0.3036 0.1354 0.062 0.2178 0.25 0.29 0.16 0.05 0.211 0.29 0.51 T 0.174 B 0.112 B . . 1.000 P 1.325 L 0.97 T -0.970 T 0.000 T 0.069 1.583 11.25 -1.29 -0.130 -0.236 3.490 1.582659 1.582659 0.1 0.216279 0.08897 NA 0.232 NA 7.6684544 885 2 20823724 20823724 T C exonic HS1BP3 NA synonymous SNV HS1BP3:NM_022460:exon6:c.A852G:p.P284P exonic ENSG00000118960 NA synonymous SNV ENSG00000118960:ENST00000458740:exon3:c.A309G:p.P103P,ENSG00000118960:ENST00000304031:exon6:c.A852G:p.P284P NA NA 2p24.1 NA NA Name=3 NA rs6531248 1 1 0.994 0.996206 1 1 0.9986 0.9864 1 1 1 1 0.99 0.9984 1 . . . . . . . . 0.008 P . . . . -1.039 T 0.000 T . 0.222 5.2 -8.91 -3.351 -4.218 0.193 0.222413 NA NA 0.999884 0.979573 NA 1 NA 7.6683826 885 21 47821588 47821588 A G exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon26:c.A4915G:p.I1639V exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon26:c.A4915G:p.I1639V NA NA 21q22.3 NA NA NA NA rs6518291 0.3 0.3 0.309 0.334665 0.2167 0.1935 0.2752 0.5862 0.3037 0.23 0.2 0.24 0.58 0.2494 0.58 0.3 T 0.0 B 0.0 B 0.065 N 1.000 P -1.12 N 0.6 T -0.933 T 0.000 T 0.011 -0.875 0.492 1.8 -0.135 1.769 6.033 -0.875115 NA 1 0.199767 0.53586 NA 0.341 NA 7.6674664 885 1 158906715 158906715 C T exonic PYHIN1 NA synonymous SNV PYHIN1:NM_152501:exon2:c.C15T:p.Y5Y,PYHIN1:NM_198928:exon2:c.C15T:p.Y5Y,PYHIN1:NM_198929:exon2:c.C15T:p.Y5Y,PYHIN1:NM_198930:exon2:c.C15T:p.Y5Y exonic ENSG00000163564 NA synonymous SNV ENSG00000163564:ENST00000368135:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000368138:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000368140:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000392252:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000392254:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000458222:exon3:c.C15T:p.Y5Y NA NA 1q23.1 Score=891;Name=V$EVI1_06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838178 NA NA NA NA NA NA NA 7.6666666 885 2 55476582 55476582 T C exonic MTIF2 NA synonymous SNV MTIF2:NM_002453:exon9:c.A930G:p.V310V,MTIF2:NM_001005369:exon10:c.A930G:p.V310V exonic ENSG00000085760 NA synonymous SNV ENSG00000085760:ENST00000403721:exon8:c.A930G:p.V310V,ENSG00000085760:ENST00000263629:exon9:c.A930G:p.V310V,ENSG00000085760:ENST00000394600:exon10:c.A930G:p.V310V NA NA 2p16.1 Score=824;Name=V$PAX3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408705 1.408705 NA NA NA NA NA NA 7.6666666 885 2 120849134 120849134 G A exonic EPB41L5 NA synonymous SNV EPB41L5:NM_001184937:exon13:c.G1047A:p.G349G,EPB41L5:NM_001184938:exon13:c.G1047A:p.G349G,EPB41L5:NM_001184939:exon13:c.G1047A:p.G349G,EPB41L5:NM_020909:exon13:c.G1047A:p.G349G exonic ENSG00000115109 NA synonymous SNV ENSG00000115109:ENST00000452780:exon12:c.G1047A:p.G349G,ENSG00000115109:ENST00000263713:exon13:c.G1047A:p.G349G,ENSG00000115109:ENST00000331393:exon13:c.G1047A:p.G349G,ENSG00000115109:ENST00000443124:exon13:c.G1047A:p.G349G,ENSG00000115109:ENST00000443902:exon13:c.G1047A:p.G349G Score=587;Name=lod=325 NA 2q14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899925 NA NA NA NA NA NA NA 7.6666666 885 6 51893037 51893037 G T exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon30:c.C3477A:p.G1159G,PKHD1:NM_170724:exon30:c.C3477A:p.G1159G exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon30:c.C3477A:p.G1159G,ENSG00000170927:ENST00000371117:exon30:c.C3477A:p.G1159G Score=309;Name=lod=24 NA 6p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553054 NA NA NA NA NA NA NA 7.6666666 885 7 20449239 20449239 A G exonic ITGB8 NA synonymous SNV ITGB8:NM_002214:exon13:c.A2025G:p.E675E exonic ENSG00000105855 NA synonymous SNV ENSG00000105855:ENST00000222573:exon13:c.A2025G:p.E675E,ENSG00000105855:ENST00000537992:exon14:c.A1620G:p.E540E Score=632;Name=lod=494 NA 7p21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863262 NA NA NA NA NA NA NA 7.6666666 885 7 76631549 76631549 A G ncRNA_exonic DTX2P1-UPK3BP1-PMS2P11 NA NA NA ncRNA_exonic ENSG00000186704,ENSG00000265479 NA NA NA Score=391;Name=lod=52 NA 7q11.23 NA Name=c-Myc,ERalpha_a Name=4 NA rs7803074 0.33 0.33 0.305 NA NA NA NA NA NA 0.29 0.25 0.28 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.450048 NA 0 NA NA ID=COSM453409;OCCURENCE=1(breast),1(lung) 0.123 NA 7.6666666 885 9 2039575 2039575 C T exonic SMARCA2 NA synonymous SNV SMARCA2:NM_003070:exon4:c.C465T:p.A155A,SMARCA2:NM_139045:exon4:c.C465T:p.A155A exonic ENSG00000080503 NA synonymous SNV ENSG00000080503:ENST00000382194:exon3:c.C465T:p.A155A,ENSG00000080503:ENST00000349721:exon4:c.C465T:p.A155A,ENSG00000080503:ENST00000357248:exon4:c.C465T:p.A155A,ENSG00000080503:ENST00000382203:exon4:c.C465T:p.A155A,ENSG00000080503:ENST00000450198:exon4:c.C465T:p.A155A Score=460;Name=lod=99 NA 9p24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.494421 1.494421 NA NA NA NA NA NA 7.6666666 885 9 68427877 68427877 G A ncRNA_exonic LOC642236 NA NA NA ncRNA_exonic ENSG00000215548 NA NA NA Score=518;Name=lod=170 NA 9q13 Score=842;Name=V$IRF7_01 NA Name=20 NA rs4066495 NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075382 NA NA NA NA NA NA NA 7.6666666 885 12 69198967 69198967 C T ncRNA_exonic LOC100130075 NA NA NA ncRNA_exonic ENSG00000256678 NA NA NA Score=503;Name=lod=148 NA 12q15 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406406 NA NA NA NA NA NA NA 7.6666666 885 20 29638018 29638018 C T ncRNA_exonic MLLT10P1 NA NA NA ncRNA_exonic ENSG00000238151 NA NA NA Score=399;Name=lod=56 NA 20q11.21 NA Name=BRF1,TAF1,BDP1,ZZZ3,BRF2 Name=87 NA rs75079415 NA NA 0.345 NA NA NA NA NA NA NA NA NA NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074546 NA NA NA NA NA 0.21 NA 7.6666666 885 3 47088028 47088028 G A exonic SETD2 NA synonymous SNV SETD2:NM_014159:exon16:c.C7047T:p.A2349A exonic ENSG00000181555 NA synonymous SNV ENSG00000181555:ENST00000409792:exon16:c.C7047T:p.A2349A NA NA 3p21.31 Score=855;Name=V$AP4_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00000824 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726036 NA NA NA NA NA NA NA 7.6666584 885 16 2813961 2813961 A T exonic SRRM2 NA synonymous SNV SRRM2:NM_016333:exon11:c.A3432T:p.S1144S exonic ENSG00000167978 NA synonymous SNV ENSG00000167978:ENST00000301740:exon11:c.A3432T:p.S1144S NA NA 16p13.3 NA Name=Pol2(phosphoS2) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.760836 NA NA NA NA NA NA NA 7.6666583 885 17 79164752 79164752 C T exonic AZI1 NA synonymous SNV AZI1:NM_001009811:exon22:c.G2790A:p.Q930Q,AZI1:NM_014984:exon23:c.G2898A:p.Q966Q exonic ENSG00000141577 NA synonymous SNV ENSG00000141577:ENST00000573053:exon10:c.G1230A:p.Q410Q,ENSG00000141577:ENST00000374782:exon22:c.G2790A:p.Q930Q,ENSG00000141577:ENST00000575907:exon22:c.G2799A:p.Q933Q,ENSG00000141577:ENST00000269392:exon23:c.G2907A:p.Q969Q,ENSG00000141577:ENST00000450824:exon23:c.G2898A:p.Q966Q Score=358;Name=lod=38 NA 17q25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008514 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850059 NA NA NA NA NA NA NA 7.6666581 885 11 64137218 64137218 C T exonic RPS6KA4 NA synonymous SNV RPS6KA4:NM_001006944:exon14:c.C1632T:p.I544I,RPS6KA4:NM_003942:exon14:c.C1650T:p.I550I exonic ENSG00000162302 NA synonymous SNV ENSG00000162302:ENST00000334205:exon14:c.C1650T:p.I550I,ENSG00000162302:ENST00000528057:exon14:c.C1629T:p.I543I,ENSG00000162302:ENST00000530504:exon14:c.C1584T:p.I528I Score=561;Name=lod=253 NA 11q13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00000932 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.402342 1.402342 NA NA NA NA NA NA 7.6666573 885 16 1810459 1810459 C T exonic MAPK8IP3 NA synonymous SNV MAPK8IP3:NM_001040439:exon11:c.C1362T:p.G454G,MAPK8IP3:NM_015133:exon12:c.C1380T:p.G460G exonic ENSG00000138834 NA synonymous SNV ENSG00000138834:ENST00000356010:exon11:c.C1362T:p.G454G,ENSG00000138834:ENST00000250894:exon12:c.C1380T:p.G460G Score=549;Name=lod=228 NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004151 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711969 NA NA NA NA NA NA NA 7.6666251 885 3 97680493 97680493 C A exonic MINA NA synonymous SNV MINA:NM_001042533:exon3:c.G492T:p.S164S,MINA:NM_001261829:exon3:c.G492T:p.S164S,MINA:NM_032778:exon3:c.G492T:p.S164S,MINA:NM_153182:exon3:c.G492T:p.S164S exonic ENSG00000170854 NA synonymous SNV ENSG00000170854:ENST00000507612:exon1:c.G30T:p.S10S,ENSG00000170854:ENST00000514314:exon2:c.G492T:p.S164S,ENSG00000170854:ENST00000330299:exon3:c.G492T:p.S164S,ENSG00000170854:ENST00000333396:exon3:c.G492T:p.S164S,ENSG00000170854:ENST00000360258:exon3:c.G492T:p.S164S,ENSG00000170854:ENST00000394198:exon3:c.G492T:p.S164S NA NA 3q11.2 Score=828;Name=V$FREAC4_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000579 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212759 NA NA NA NA NA NA NA 7.6666087 885 3 48699636 48699636 C T exonic CELSR3 NA synonymous SNV CELSR3:NM_001407:exon1:c.G432A:p.R144R exonic ENSG00000008300 NA synonymous SNV ENSG00000008300:ENST00000164024:exon1:c.G432A:p.R144R,ENSG00000008300:ENST00000544264:exon1:c.G432A:p.R144R NA NA 3p21.31 NA Name=NRSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006836 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179707 NA NA NA NA NA NA NA 7.6665982 885 15 27572153 27572153 C T exonic GABRG3 NA synonymous SNV GABRG3:NM_001270873:exon4:c.C468T:p.D156D,GABRG3:NM_033223:exon4:c.C468T:p.D156D exonic ENSG00000182256 NA synonymous SNV ENSG00000182256:ENST00000554696:exon2:c.C294T:p.D98D,ENSG00000182256:ENST00000333743:exon4:c.C468T:p.D156D,ENSG00000182256:ENST00000555083:exon4:c.C468T:p.D156D Score=512;Name=lod=161 NA 15q12 Score=805;Name=V$PBX1_02 NA NA NA rs376676320 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0003 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536718 NA NA 0 0.000257 ID=COSM1372205;OCCURENCE=1(large_intestine) NA NA 7.6663666 885 8 69104722 69104722 C T exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon37:c.C4566T:p.G1522G exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon37:c.C4566T:p.G1522G NA NA 8q13.2 NA Name=HA-E2F1,E2F6_(H-50) Name=6 NA rs61753705 0.0009 0.0009 NA 0.000399361 NA NA 0.0029 NA NA NA NA 0.01 NA 0.0004 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632216 NA NA NA NA NA NA NA 7.6662666 885 5 148689617 148689617 C T exonic AFAP1L1 NA synonymous SNV AFAP1L1:NM_001146337:exon8:c.C846T:p.H282H,AFAP1L1:NM_152406:exon8:c.C846T:p.H282H exonic ENSG00000157510 NA synonymous SNV ENSG00000157510:ENST00000296721:exon8:c.C846T:p.H282H,ENSG00000157510:ENST00000515000:exon8:c.C846T:p.H282H Score=587;Name=lod=325 NA 5q32 Score=956;Name=V$AP4_Q5 NA NA NA rs139614291 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152516 NA NA 0.000349 0.000454 NA NA NA 7.6662176 885 19 18123757 18123757 G A exonic ARRDC2 NA synonymous SNV ARRDC2:NM_001025604:exon8:c.G1191A:p.P397P,ARRDC2:NM_015683:exon8:c.G1206A:p.P402P exonic ENSG00000105643 NA synonymous SNV ENSG00000105643:ENST00000222250:exon8:c.G1206A:p.P402P,ENSG00000105643:ENST00000379656:exon8:c.G1191A:p.P397P Score=470;Name=lod=108 NA 19p13.11 Score=964;Name=V$TCF11_01 NA NA NA rs140570800 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0002 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279701 NA NA 0.000349 0 NA NA NA 7.6661176 885 2 214012508 214012508 C T exonic IKZF2 NA synonymous SNV IKZF2:NM_016260:exon3:c.G63A:p.E21E,IKZF2:NM_001079526:exon4:c.G63A:p.E21E exonic ENSG00000030419 NA synonymous SNV ENSG00000030419:ENST00000374326:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000374327:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000412444:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000413091:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000421754:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000431520:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000439848:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000451136:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000453575:exon2:c.G63A:p.E21E,ENSG00000030419:ENST00000342002:exon3:c.G81A:p.E27E,ENSG00000030419:ENST00000433134:exon3:c.G81A:p.E27E,ENSG00000030419:ENST00000442445:exon3:c.G81A:p.E27E,ENSG00000030419:ENST00000452786:exon3:c.G63A:p.E21E,ENSG00000030419:ENST00000457361:exon3:c.G63A:p.E21E,ENSG00000030419:ENST00000374319:exon4:c.G63A:p.E21E,ENSG00000030419:ENST00000434687:exon4:c.G63A:p.E21E Score=672;Name=lod=716 NA 2q34 NA Name=USF-1,TBP,USF2,Pol2,YY1,YY1_(C-20),Pol2-4H8 Name=13 NA rs6709554 0.18 0.18 0.16 0.152756 0.3509 0.003 0.2363 0.0522 0.18 0.35 0.0035 0.26 0.04 0.2751 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124453 NA NA 0.374767 0.08443 NA 0.196 NA 7.6658996 885 3 125643903 125643903 T C ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=289;Name=lod=20 NA 3q21.2 NA Name=ERalpha_a NA NA NA NA NA NA 0.00279553 0.001 0.004 0.0014 0.0015 0.0061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606477 NA NA NA NA NA NA NA 7.6656666 885 3 125643904 125643904 G A ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=289;Name=lod=20 NA 3q21.2 NA Name=ERalpha_a NA NA NA NA NA NA 0.00279553 0.001 0.004 0.0014 0.0015 0.0061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285094 NA NA NA NA NA NA NA 7.6656666 885 9 114131316 114131316 T C exonic KIAA0368 NA synonymous SNV KIAA0368:NM_001080398:exon47:c.A5646G:p.Q1882Q exonic ENSG00000136813 NA synonymous SNV ENSG00000136813:ENST00000338205:exon45:c.A5112G:p.Q1704Q,ENSG00000136813:ENST00000259335:exon47:c.A5646G:p.Q1882Q Score=443;Name=lod=84 NA 9q31.3 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00001755 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196511 NA NA NA NA NA NA NA 7.665649 885 9 138651555 138651555 G A exonic KCNT1 NA synonymous SNV KCNT1:NM_001272003:exon10:c.G750A:p.A250A,KCNT1:NM_020822:exon11:c.G885A:p.A295A exonic ENSG00000107147 NA synonymous SNV ENSG00000107147:ENST00000473941:exon10:c.G726A:p.A242A,ENSG00000107147:ENST00000487664:exon10:c.G750A:p.A250A,ENSG00000107147:ENST00000491806:exon10:c.G786A:p.A262A,ENSG00000107147:ENST00000263604:exon11:c.G828A:p.A276A,ENSG00000107147:ENST00000298480:exon11:c.G885A:p.A295A,ENSG00000107147:ENST00000371757:exon11:c.G885A:p.A295A,ENSG00000107147:ENST00000486577:exon11:c.G768A:p.A256A,ENSG00000107147:ENST00000488444:exon11:c.G828A:p.A276A,ENSG00000107147:ENST00000490355:exon11:c.G828A:p.A276A NA NA 9q34.3 Score=772;Name=V$PAX5_02 Name=JunD,ZNF263 NA NA rs142756900 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564634 NA NA 0.000581 0 NA NA NA 7.6654856 885 20 23065209 23065209 G A exonic CD93 NA nonsynonymous SNV CD93:NM_012072:exon1:c.C1621T:p.P541S exonic ENSG00000125810 NA nonsynonymous SNV ENSG00000125810:ENST00000246006:exon1:c.C1621T:p.P541S NA NA 20p11.21 NA NA NA NA rs3746731 0.53 0.53 0.521 0.541134 0.5378 0.6468 0.6254 0.3427 0.6442 0.52 0.67 0.59 0.35 0.5635 0.67 0.42 T 0.192 B 0.086 B 0.001 N 1.000 P 1.32 L -1.43 T -0.903 T 0.000 T 0.066 1.911 12.35 3.84 0.778 2.358 9.364 1.910938 1.910938 0.58 0.566628 0.367227 NA 0.529 NA 7.6654054 885 9 80144114 80144114 C T exonic GNA14 NA synonymous SNV GNA14:NM_004297:exon2:c.G180A:p.G60G exonic ENSG00000156049 NA synonymous SNV ENSG00000156049:ENST00000341700:exon2:c.G180A:p.G60G Score=622;Name=lod=448 NA 9q21.2 Score=866;Name=V$HAND1E47_01 NA NA NA rs147709559 NA NA NA 0.000599042 0.001 NA 0.0029 NA NA NA NA NA NA 0.0003 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.419288 1.419288 NA 0.000116 0 NA NA NA 7.6652506 885 14 62212486 62212486 T C exonic HIF1A NA synonymous SNV HIF1A:NM_001243084:exon14:c.T2352C:p.S784S,HIF1A:NM_001530:exon14:c.T2280C:p.S760S exonic ENSG00000100644 NA synonymous SNV ENSG00000100644:ENST00000337138:exon14:c.T2280C:p.S760S,ENSG00000100644:ENST00000394997:exon14:c.T2283C:p.S761S,ENSG00000100644:ENST00000539097:exon14:c.T2352C:p.S784S,ENSG00000100644:ENST00000557538:exon14:c.T2103C:p.S701S Score=607;Name=lod=391 NA 14q23.2 Score=820;Name=V$OCT1_04 NA NA NA rs149019950 0.0005 0.0005 NA 0.000599042 0.001 NA 0.0014 NA 0.001 NA NA 0.0028 NA 0.0004 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340799 1.340799 NA 0.000233 0.000227 NA NA NA 7.6650336 885 2 196774877 196774877 A G exonic DNAH7 NA synonymous SNV DNAH7:NM_018897:exon25:c.T3978C:p.P1326P exonic ENSG00000118997 NA synonymous SNV ENSG00000118997:ENST00000312428:exon25:c.T3978C:p.P1326P Score=501;Name=lod=145 NA 2q32.3 Score=931;Name=V$LMO2COM_01 NA NA NA rs200575809 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208386 NA NA 0.000365 0 NA NA NA 7.6650016 886 4 73930519 73930519 G A exonic COX18 NA synonymous SNV COX18:NM_173827:exon4:c.C696T:p.G232G exonic ENSG00000163626 NA synonymous SNV ENSG00000163626:ENST00000295890:exon4:c.C696T:p.G232G,ENSG00000163626:ENST00000507544:exon4:c.C699T:p.G233G Score=501;Name=lod=145 NA 4q13.3 NA NA Name=15 NA rs61741433 0.0027 0.0027 0.004 0.00259585 NA NA 0.0029 0.0083 NA NA NA 0.0028 0.01 0.0015 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532201 NA NA 0.000233 0.011348 NA NA NA 7.6649336 886 10 85981842 85981842 A G exonic LRIT2 NA nonsynonymous SNV LRIT2:NM_001017924:exon3:c.T1487C:p.V496A exonic ENSG00000204033 NA nonsynonymous SNV ENSG00000204033:ENST00000372113:exon3:c.T1487C:p.V496A,ENSG00000204033:ENST00000538192:exon4:c.T1517C:p.V506A NA NA 10q23.1 NA NA NA NA rs12217769 0.22 0.22 0.189 0.207867 0.2346 0.3452 0.2911 0.0522 0.1902 0.22 0.31 0.28 0.07 0.2128 0.31 0.53 T 0.019 B 0.006 B 0.666 N 1.000 P 0 N 2.32 T -0.902 T 0.000 T 0.133 -2.043 0.006 2.88 0.535 0.736 8.319 -2.043231 NA 0.35 0.221163 0.086512 NA 0.13 NA 7.6647704 886 6 49814239 49814239 G A exonic CRISP1 NA synonymous SNV CRISP1:NM_001131:exon5:c.C429T:p.Y143Y,CRISP1:NM_001205220:exon5:c.C429T:p.Y143Y,CRISP1:NM_170609:exon5:c.C429T:p.Y143Y exonic ENSG00000124812 NA synonymous SNV ENSG00000124812:ENST00000329411:exon4:c.C429T:p.Y143Y,ENSG00000124812:ENST00000355791:exon4:c.C429T:p.Y143Y,ENSG00000124812:ENST00000335847:exon5:c.C429T:p.Y143Y,ENSG00000124812:ENST00000505118:exon5:c.C429T:p.Y143Y,ENSG00000124812:ENST00000507853:exon5:c.C429T:p.Y143Y,ENSG00000124812:ENST00000536021:exon5:c.C429T:p.Y143Y Score=383;Name=lod=48 NA 6p12.3 NA Name=TAL1_(SC-12984) NA NA rs138679779 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660061 NA NA 0.001395 0.000454 NA NA NA 7.6646716 886 1 55349318 55349318 G A exonic DHCR24 NA synonymous SNV DHCR24:NM_014762:exon2:c.C360T:p.D120D exonic ENSG00000116133 NA synonymous SNV ENSG00000116133:ENST00000371269:exon2:c.C360T:p.D120D,ENSG00000116133:ENST00000535035:exon2:c.C237T:p.D79D Score=622;Name=lod=451 NA 1p32.3 Score=791;Name=V$CART1_01 NA NA NA rs61733134 0.01 0.01 0.006 0.0071885 NA NA 0.0014 0.0265 NA NA NA NA 0.02 0.0021 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244873 1.244873 NA 0.000349 0.020654 NA 0.022 NA 7.6642176 886 8 22974450 22974450 T C exonic TNFRSF10C NA nonsynonymous SNV TNFRSF10C:NM_003841:exon5:c.T686C:p.I229T exonic ENSG00000173535 NA nonsynonymous SNV ENSG00000173535:ENST00000540813:exon4:c.T380C:p.I127T,ENSG00000173535:ENST00000356864:exon5:c.T686C:p.I229T Score=284;Name=lod=19 NA 8p21.3 NA NA NA NA rs9644063 0.77 0.77 0.676 0.769169 0.7972 0.8115 0.8689 0.5991 0.8558 0.79 0.85 0.86 0.58 0.0586 0.86 1 T 0.0 B 0.0 B 0.910 U 0.000 P -0.805 N 1.44 T -0.967 T 0.000 T 0.038 -0.272 2.696 0.177 -0.731 -2.796 4.563 -0.27204 NA 1 0.813445 0.640944 NA 0.051 NA 7.6640884 886 1 205628425 205628425 G A exonic SLC45A3 NA synonymous SNV SLC45A3:NM_033102:exon5:c.C1599T:p.V533V exonic ENSG00000158715 NA synonymous SNV ENSG00000158715:ENST00000367145:exon5:c.C1599T:p.V533V NA NA 1q32.1 Score=867;Name=V$YY1_01 NA Name=132 NA rs143282781 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0013 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.032311 NA NA 0.001279 0.000681 NA NA NA 7.6640876 886 14 24615435 24615435 T C exonic PSME2 NA synonymous SNV PSME2:NM_002818:exon2:c.A63G:p.R21R exonic ENSG00000100911 NA synonymous SNV ENSG00000100911:ENST00000216802:exon2:c.A63G:p.R21R,ENSG00000100911:ENST00000558273:exon2:c.A63G:p.R21R,ENSG00000100911:ENST00000560370:exon2:c.A63G:p.R21R Score=505;Name=lod=151 NA 14q12 Score=781;Name=V$STAT5A_02 NA Name=68 NA rs4575 0.52 0.52 0.503 0.567891 0.3231 0.6369 0.5447 0.7905 0.4642 0.32 0.6 0.5 0.74 0.4032 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.259252 1.259252 NA 0.276279 0.698139 NA 0.442 NA 7.6640876 886 15 90168108 90168108 C T exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon20:c.C4567T:p.R1523C exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon20:c.C4567T:p.R1523C,ENSG00000140534:ENST00000560985:exon20:c.C4564T:p.R1522C NA Name=Obesity-related traits 15q26.1 NA NA NA NA rs894157 0.85 0.85 0.866 0.850639 0.8956 0.7153 0.7853 0.9766 0.82 0.9 0.69 0.82 0.97 0.8677 0.97 0.18 T 0.0 B 0.0 B 0.609 N 1.000 P -0.69 N 3.13 T -1.043 T 0.000 T 0.053 1.055 9.307 2.63 0.022 2.981 6.427 1.054634 NA 0.13 0.906257 0.960909 ID=COSM147978;OCCURENCE=1(stomach) 0.841 NA 7.6637764 886 15 81605612 81605612 C T exonic STARD5 NA synonymous SNV STARD5:NM_181900:exon6:c.G627A:p.K209K exonic ENSG00000172345 NA synonymous SNV ENSG00000172345:ENST00000302824:exon6:c.G627A:p.K209K NA NA 15q25.1 NA Name=GR,Max,p300,CEBPB,Pol2(b),JunD,STAT3,c-Fos,ERalpha_a,c-Jun Name=114 NA rs61659195 0.01 0.01 0.006 0.00778754 NA NA NA 0.0295 NA NA NA NA 0.02 0.0028 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165718 NA 0.01 0.000116 0.024739 NA 0.014 NA 7.6637506 886 2 71797754 71797754 C T exonic DYSF NA synonymous SNV DYSF:NM_001130976:exon28:c.C3015T:p.P1005P,DYSF:NM_001130977:exon28:c.C3015T:p.P1005P,DYSF:NM_001130984:exon28:c.C3018T:p.P1006P,DYSF:NM_001130986:exon28:c.C3018T:p.P1006P,DYSF:NM_001130455:exon29:c.C3060T:p.P1020P,DYSF:NM_001130978:exon29:c.C3057T:p.P1019P,DYSF:NM_001130980:exon29:c.C3108T:p.P1036P,DYSF:NM_001130981:exon29:c.C3108T:p.P1036P,DYSF:NM_001130983:exon29:c.C3060T:p.P1020P,DYSF:NM_001130985:exon29:c.C3111T:p.P1037P,DYSF:NM_001130987:exon29:c.C3111T:p.P1037P,DYSF:NM_003494:exon29:c.C3057T:p.P1019P,DYSF:NM_001130979:exon30:c.C3150T:p.P1050P,DYSF:NM_001130982:exon30:c.C3153T:p.P1051P exonic ENSG00000135636 NA synonymous SNV ENSG00000135636:ENST00000409744:exon28:c.C3018T:p.P1006P,ENSG00000135636:ENST00000258104:exon29:c.C3057T:p.P1019P,ENSG00000135636:ENST00000394120:exon29:c.C3060T:p.P1020P,ENSG00000135636:ENST00000409366:exon29:c.C3060T:p.P1020P,ENSG00000135636:ENST00000409582:exon29:c.C3108T:p.P1036P,ENSG00000135636:ENST00000409762:exon29:c.C3108T:p.P1036P,ENSG00000135636:ENST00000410020:exon29:c.C3111T:p.P1037P,ENSG00000135636:ENST00000410041:exon29:c.C3111T:p.P1037P,ENSG00000135636:ENST00000429174:exon29:c.C3057T:p.P1019P,ENSG00000135636:ENST00000409651:exon30:c.C3153T:p.P1051P,ENSG00000135636:ENST00000413539:exon30:c.C3150T:p.P1050P Score=521;Name=lod=175 NA 2p13.2 Score=834;Name=V$MRF2_01 NA NA NA rs143475751 NA NA NA 0.000399361 0.001 NA 0.0014 NA NA NA NA NA NA 0.0009 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36781 NA NA 0.001047 0 NA NA NA 7.6637196 886 5 79351738 79351738 A G exonic THBS4 NA synonymous SNV THBS4:NM_003248:exon3:c.A423G:p.L141L exonic ENSG00000113296 NA synonymous SNV ENSG00000113296:ENST00000350881:exon3:c.A423G:p.L141L,ENSG00000113296:ENST00000511733:exon3:c.A150G:p.L50L NA NA 5q14.1 NA Name=EBF Name=12 NA rs17882513 0.0018 0.0018 0.003 0.00339457 0.001 NA 0.0043 0.0098 NA NA NA 0.0028 0.01 0.0015 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651602 NA NA 0.000581 0.007717 NA 0.007 NA 7.6635856 886 16 23080363 23080363 G A exonic USP31 NA synonymous SNV USP31:NM_020718:exon16:c.C3063T:p.S1021S exonic ENSG00000103404 NA synonymous SNV ENSG00000103404:ENST00000567975:exon2:c.C942T:p.S314S,ENSG00000103404:ENST00000219689:exon16:c.C3063T:p.S1021S Score=366;Name=lod=41 NA 16p12.2 Score=851;Name=V$FAC1_01 NA NA NA rs146554415 0.0014 0.0014 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0026 NA 0.0028 NA 0.0006 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36519 NA NA 0.000581 0.000683 NA NA NA 7.6634856 886 1 6521701 6521701 C T exonic TNFRSF25 NA synonymous SNV TNFRSF25:NM_148970:exon5:c.G498A:p.E166E,TNFRSF25:NM_148966:exon9:c.G936A:p.E312E,TNFRSF25:NM_148967:exon9:c.G912A:p.E304E,TNFRSF25:NM_003790:exon10:c.G1047A:p.E349E,TNFRSF25:NM_148965:exon10:c.G1074A:p.E358E exonic ENSG00000215788 NA synonymous SNV ENSG00000215788:ENST00000351748:exon5:c.G498A:p.E166E,ENSG00000215788:ENST00000348333:exon9:c.G912A:p.E304E,ENSG00000215788:ENST00000351959:exon9:c.G936A:p.E312E,ENSG00000215788:ENST00000356876:exon10:c.G1047A:p.E349E,ENSG00000215788:ENST00000377782:exon10:c.G1074A:p.E358E Score=628;Name=lod=477 NA 1p36.31 Score=860;Name=V$P300_01 NA NA NA rs149595085 0.0014 0.0014 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA 0.0041 0.0003 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.547896 1.547896 NA 0.001047 0 NA NA NA 7.6633196 886 X 2835964 2835964 G A exonic ARSD NA synonymous SNV ARSD:NM_001669:exon5:c.C744T:p.F248F exonic ENSG00000006756 NA synonymous SNV ENSG00000006756:ENST00000381154:exon5:c.C744T:p.F248F NA NA Xp22.33 NA Name=CCNT2,YY1,HMGN3 Name=5 NA rs73632972 NA NA 0.12798 NA NA NA NA NA NA NA NA NA NA 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118953 NA NA NA NA NA NA NA 7.6621666 886 21 31744127 31744127 A T exonic KRTAP13-2 NA stopgain KRTAP13-2:NM_181621:exon1:c.T405A:p.C135X exonic ENSG00000182816 NA stopgain ENSG00000182816:ENST00000399889:exon1:c.T405A:p.C135X NA NA 21q22.11 NA NA NA NA rs877346 0.31 0.31 0.297 0.318091 0.4483 0.2688 0.3473 0.1679 0.4172 0.45 0.23 0.35 0.16 0.4041 0.49 0.24 T . . . . 0.431 U 0.987 P . . . . . . . . . 1.499 10.96 2.31 0.865 0.246 5.629 1.499213 1.499213 NA 0.485581 0.215161 NA 0.297 NA 7.662019 886 20 36854106 36854106 G T exonic KIAA1755 NA synonymous SNV KIAA1755:NM_001029864:exon8:c.C2130A:p.P710P exonic ENSG00000149633 NA synonymous SNV ENSG00000149633:ENST00000279024:exon8:c.C2130A:p.P710P Score=507;Name=lod=154 NA 20q11.23 Score=683;Name=V$PPARG_02 NA NA NA rs140170793 0.01 0.01 0.007 0.0101837 0.001 0.0427 0.0014 0.0015 0.0041 NA 0.04 0.0028 0.002 0.0037 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335567 1.335567 NA 0.000349 0.000454 NA NA NA 7.6616176 886 11 5717780 5717780 C T exonic TRIM22 NA synonymous SNV TRIM22:NM_001199573:exon2:c.C318T:p.I106I,TRIM22:NM_006074:exon2:c.C318T:p.I106I exonic ENSG00000132274 NA synonymous SNV ENSG00000132274:ENST00000379965:exon2:c.C318T:p.I106I,ENSG00000132274:ENST00000414641:exon2:c.C318T:p.I106I,ENSG00000132274:ENST00000454828:exon2:c.C318T:p.I106I,ENSG00000132274:ENST00000425490:exon3:c.C318T:p.I106I NA NA 11p15.4 Score=820;Name=V$E4BP4_01 NA Name=7 NA rs61735271 0.01 0.01 0.002 0.00798722 0.002 NA 0.0115 0.0227 NA NA NA 0.02 0.02 0.0024 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137621 NA NA 0.000941 0.011516 NA 0.029 NA 7.6613256 886 11 102479669 102479669 G A exonic MMP20 NA synonymous SNV MMP20:NM_004771:exon5:c.C810T:p.Y270Y exonic ENSG00000137674 NA synonymous SNV ENSG00000137674:ENST00000260228:exon5:c.C810T:p.Y270Y NA NA 11q22.2 NA Name=JunD Name=10 NA rs11225343 0.02 0.02 0.019 0.0245607 NA NA 0.0058 0.09 NA NA NA 0.01 0.08 0.0066 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.263074 NA NA 0.000233 0.070586 NA 0.029 NA 7.6598336 886 22 31302233 31302233 T C exonic OSBP2 NA synonymous SNV OSBP2:NM_030758:exon14:c.T2658C:p.D886D exonic ENSG00000184792 NA synonymous SNV ENSG00000184792:ENST00000535268:exon12:c.T1290C:p.D430D,ENSG00000184792:ENST00000401475:exon13:c.T1557C:p.D519D,ENSG00000184792:ENST00000437268:exon13:c.T1887C:p.D629D,ENSG00000184792:ENST00000332585:exon14:c.T2658C:p.D886D,ENSG00000184792:ENST00000407373:exon14:c.T2139C:p.D713D,ENSG00000184792:ENST00000446658:exon14:c.T2655C:p.D885D,ENSG00000184792:ENST00000403222:exon15:c.T2160C:p.D720D Score=510;Name=lod=158 NA 22q12.2 Score=808;Name=V$OLF1_01 NA NA NA rs3804085 0.47 0.47 0.418 0.477436 0.3191 0.6895 0.3573 0.6059 0.3333 0.31 0.63 0.4 0.59 0.3643 0.63 . . . . . . . . 0.000 P . . . . -0.920 T 0.000 T . 0.786 8.146 0.302 0.007 0.105 10.173 0.786255 NA NA 0.323765 0.540075 NA 0.428 NA 7.6595016 886 16 16291983 16291983 A G exonic ABCC6 NA synonymous SNV ABCC6:NM_001171:exon10:c.T1233C:p.N411N exonic ENSG00000091262 NA synonymous SNV ENSG00000091262:ENST00000205557:exon10:c.T1233C:p.N411N,ENSG00000091262:ENST00000456970:exon10:c.T1233C:p.N411N Score=514;Name=lod=164 NA 16p13.11 Score=789;Name=V$XBP1_01 NA NA NA rs9930886 0.29 0.29 0.293 0.282748 0.326 0.3214 0.3127 0.2526 0.2178 0.34 0.27 0.29 0.25 0.3384 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331035 NA NA 0.343256 0.254665 NA 0.203 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000132638.1;CLNDSDB=.;CLNDSDBID=. 7.6590106 886 17 5085530 5085530 A G exonic ZNF594 NA synonymous SNV ZNF594:NM_032530:exon2:c.T2022C:p.H674H exonic ENSG00000180626 NA synonymous SNV ENSG00000180626:ENST00000399604:exon1:c.T2022C:p.H674H,ENSG00000180626:ENST00000575779:exon2:c.T2022C:p.H674H Score=352;Name=lod=36 NA 17p13.2 NA Name=SETDB1,KAP1 NA NA rs57456705 0.02 0.02 0.025 0.0273562 NA NA 0.0029 0.1021 NA NA NA 0.0028 0.1 0.0077 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41587 NA NA 0.000233 0.07636 NA 0.036 NA 7.6587336 886 10 102762598 102762598 C T exonic LZTS2 NA synonymous SNV LZTS2:NM_032429:exon2:c.C303T:p.P101P exonic ENSG00000107816 NA synonymous SNV ENSG00000107816:ENST00000370220:exon1:c.C303T:p.P101P,ENSG00000107816:ENST00000370223:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000426584:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000429732:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000454422:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000481129:exon2:c.C303T:p.P101P Score=403;Name=lod=58 NA 10q24.31 Score=714;Name=V$HOX13_01 NA NA NA rs117876479 0.01 0.01 0.007 0.00638978 0.003 0.0278 0.0014 NA NA 0.01 0.02 NA NA 0.0046 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445005 1.445005 NA 0.000349 0.000227 NA NA NA 7.6587176 886 11 16077331 16077331 T C exonic SOX6 NA synonymous SNV SOX6:NM_001145811:exon9:c.A1095G:p.E365E,SOX6:NM_017508:exon9:c.A1104G:p.E368E,SOX6:NM_001145819:exon10:c.A1257G:p.E419E,SOX6:NM_033326:exon10:c.A1218G:p.E406E exonic ENSG00000110693 NA synonymous SNV ENSG00000110693:ENST00000316399:exon9:c.A1218G:p.E406E,ENSG00000110693:ENST00000527619:exon9:c.A1104G:p.E368E,ENSG00000110693:ENST00000528252:exon9:c.A1095G:p.E365E,ENSG00000110693:ENST00000352083:exon10:c.A1218G:p.E406E,ENSG00000110693:ENST00000396356:exon10:c.A1218G:p.E406E,ENSG00000110693:ENST00000528429:exon10:c.A1218G:p.E406E Score=739;Name=lod=1341 NA 11p15.2 Score=850;Name=V$EVI1_04 NA NA NA rs146022326 0.0032 0.0032 NA 0.00159744 0.004 NA 0.0043 0.0008 NA 0.01 NA 0.01 NA 0.0022 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763303 NA NA 0.00198 0.000682 NA NA NA 7.6584866 886 19 7594511 7594511 C T exonic MCOLN1 NA synonymous SNV MCOLN1:NM_020533:exon11:c.C1272T:p.S424S exonic ENSG00000090674 NA synonymous SNV ENSG00000090674:ENST00000264079:exon11:c.C1272T:p.S424S Score=651;Name=lod=588 NA 19p13.2 Score=782;Name=V$PAX2_01 NA NA NA rs147754092 0.0009 0.0009 NA 0.00119808 0.003 NA NA 0.0015 0.001 0.0026 NA NA NA 0.0025 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451882 1.451882 NA 0.003023 0.000908 NA NA NA 7.6581436 886 21 47545949 47545949 T C exonic COL6A2 NA synonymous SNV COL6A2:NM_001849:exon26:c.T2220C:p.D740D,COL6A2:NM_058174:exon26:c.T2220C:p.D740D,COL6A2:NM_058175:exon26:c.T2220C:p.D740D exonic ENSG00000142173 NA synonymous SNV ENSG00000142173:ENST00000397763:exon25:c.T2220C:p.D740D,ENSG00000142173:ENST00000409416:exon25:c.T2220C:p.D740D,ENSG00000142173:ENST00000300527:exon26:c.T2220C:p.D740D,ENSG00000142173:ENST00000310645:exon26:c.T2220C:p.D740D,ENSG00000142173:ENST00000357838:exon26:c.T2220C:p.D740D Score=336;Name=lod=31 NA 21q22.3 Score=905;Name=V$RORA1_01 NA NA NA rs61735830 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0028 0.0038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113945 NA NA 0.003837 0.000908 NA NA NA 7.6580296 886 15 81235363 81235363 G A exonic KIAA1199 NA synonymous SNV KIAA1199:NM_018689:exon27:c.G3777A:p.V1259V exonic ENSG00000103888 NA synonymous SNV ENSG00000103888:ENST00000220244:exon27:c.G3777A:p.V1259V,ENSG00000103888:ENST00000356249:exon28:c.G3777A:p.V1259V,ENSG00000103888:ENST00000394685:exon28:c.G3777A:p.V1259V Score=295;Name=lod=21 NA 15q25.1 Score=924;Name=V$MYCMAX_02 NA NA NA rs35526763 0.01 0.01 0.011 0.0119808 0.001 NA 0.0144 0.0363 0.001 NA NA 0.02 0.04 0.0058 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325088 NA NA 0.001977 0.040172 NA 0.007 NA 7.6578896 886 22 26860269 26860269 G C exonic HPS4 NA nonsynonymous SNV HPS4:NM_152841:exon9:c.C1312G:p.L438V,HPS4:NM_022081:exon11:c.C1327G:p.L443V exonic ENSG00000100099 NA nonsynonymous SNV ENSG00000100099:ENST00000402105:exon9:c.C1312G:p.L438V,ENSG00000100099:ENST00000398141:exon10:c.C1366G:p.L456V,ENSG00000100099:ENST00000336873:exon11:c.C1327G:p.L443V,ENSG00000100099:ENST00000398145:exon11:c.C1327G:p.L443V,ENSG00000100099:ENST00000422379:exon12:c.C1381G:p.L461V NA NA 22q12.1 NA NA NA NA rs2014410 0.34 0.34 0.349 0.354233 0.3817 0.3026 0.2536 0.2927 0.5337 0.4 0.32 0.26 0.32 0.3829 0.41 0.47 T 0.589 P 0.083 B 0.017 N 1.000 P 1.525 L 1.46 T -1.039 T 0.000 T 0.189 -0.07 3.661 -3.76 -0.455 -0.433 10.084 -0.069509 NA 0.31 0.411163 0.313436 NA 0.304 NA 7.6575704 886 5 7897319 7897319 G A exonic MTRR NA synonymous SNV MTRR:NM_002454:exon14:c.G1911A:p.A637A,MTRR:NM_024010:exon14:c.G1992A:p.A664A exonic ENSG00000124275 NA synonymous SNV ENSG00000124275:ENST00000264668:exon14:c.G1992A:p.A664A,ENSG00000124275:ENST00000440940:exon14:c.G1911A:p.A637A NA NA 5p15.31 Score=919;Name=V$LMO2COM_01,V$MYOD_01 Name=FOSL1_(SC-183),Rad21,CTCF_(C-20),CTCF,eGFP-JunB,CTCFL_(SC-98982),CTCF_(SC-5916),Egr-1,SMC3_(ab9263),YY1,YY1_(C-20),c-Fos,eGFP-JunD Name=96 NA rs1802059 0.25 0.25 0.257 0.266374 0.336 0.13 0.2133 0.2557 0.3875 0.34 0.1 0.23 0.29 0.3142 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906713 NA NA 0.358953 0.254653 NA 0.188 NA 7.6575136 886 19 13211508 13211508 C T exonic LYL1 NA synonymous SNV LYL1:NM_005583:exon3:c.G390A:p.K130K exonic ENSG00000104903 NA synonymous SNV ENSG00000104903:ENST00000264824:exon3:c.G390A:p.K130K,ENSG00000104903:ENST00000590974:exon3:c.G168A:p.K56K Score=573;Name=lod=284 NA 19p13.2 NA NA Name=2 NA rs142687463 0.0005 0.0005 NA 0.00159744 0.001 NA 0.0029 NA 0.0051 NA NA 0.0028 NA 0.0039 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374326 1.374326 NA 0.005116 0.001816 ID=COSM565176;OCCURENCE=1(lung) 0.007 NA 7.6566506 886 18 6985270 6985270 C T exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon39:c.G5626A:p.A1876T exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon39:c.G5626A:p.A1876T NA NA 18p11.31 NA NA NA NA rs11664063 0.16 0.16 0.173 0.135583 0.2276 0.1915 0.1383 0.0068 0.1554 0.24 0.17 0.17 0.01 0.1941 0.26 0.53 T 0.152 B 0.013 B 0.057 N 1.000 P 2.085 M 2.25 T -0.935 T 0.000 T 0.021 0.794 8.183 -0.587 -0.449 0.065 6.143 0.794177 NA NA 0.25593 0.051067 ID=COSM148380;OCCURENCE=1(stomach) 0.203 NA 7.6557034 886 1 158262459 158262459 C T exonic CD1C NA synonymous SNV CD1C:NM_001765:exon4:c.C684T:p.S228S exonic ENSG00000158481 NA synonymous SNV ENSG00000158481:ENST00000368170:exon4:c.C684T:p.S228S NA NA 1q23.1 NA NA NA NA rs3138103 0.0014 0.0014 0.003 0.000998403 0.004 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0028 0.0042 . . . . . . . . 1.000 N . . . . -0.977 T 0.019 T . 0.398 6.164 -1.61 -0.310 -2.389 2.974 0.398461 NA NA 0.004186 0.001362 NA NA NA 7.6556806 886 2 96993884 96993884 A G exonic ITPRIPL1 NA synonymous SNV ITPRIPL1:NM_178495:exon1:c.A1539G:p.P513P,ITPRIPL1:NM_001163523:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001163524:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001008949:exon3:c.A1515G:p.P505P exonic ENSG00000198885 NA synonymous SNV ENSG00000198885:ENST00000361124:exon1:c.A1539G:p.P513P,ENSG00000198885:ENST00000536814:exon2:c.A1491G:p.P497P,ENSG00000198885:ENST00000542887:exon2:c.A1491G:p.P497P,ENSG00000198885:ENST00000439118:exon3:c.A1515G:p.P505P NA NA 2q11.2 NA NA NA NA rs1048675 0.29 0.29 0.293 0.379992 0.3191 0.2778 0.317 0.2784 0.7301 0.32 0.26 0.31 0.26 0.357 0.34 . . . . . . . . 0.333 P . . . . -1.075 T 0.000 T . -0.025 3.885 -11.3 -2.991 -1.787 7.727 -0.025099 NA NA 0.335465 0.282569 ID=COSM148904;OCCURENCE=1(stomach) 0.232 NA 7.6551016 887 19 21991663 21991663 A G exonic ZNF43 NA synonymous SNV ZNF43:NM_001256651:exon3:c.T981C:p.H327H,ZNF43:NM_001256654:exon3:c.T981C:p.H327H,ZNF43:NM_001256653:exon4:c.T1203C:p.H401H,ZNF43:NM_003423:exon4:c.T1176C:p.H392H,ZNF43:NM_001256650:exon6:c.T1158C:p.H386H,ZNF43:NM_001256648:exon7:c.T1158C:p.H386H,ZNF43:NM_001256649:exon7:c.T1158C:p.H386H exonic ENSG00000198521 NA synonymous SNV ENSG00000198521:ENST00000354959:exon4:c.T1176C:p.H392H,ENSG00000198521:ENST00000598381:exon6:c.T1158C:p.H386H,ENSG00000198521:ENST00000594012:exon7:c.T1158C:p.H386H,ENSG00000198521:ENST00000595461:exon7:c.T1158C:p.H386H Score=376;Name=lod=45 NA 19p12 NA Name=SETDB1,ZNF274 NA NA rs61733114 0.03 0.03 0.032 0.0389377 NA NA 0.0159 0.1392 NA 0.0026 NA 0.02 0.12 0.0116 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223753 NA NA 0.00093 0.106446 NA 0.051 NA 7.6541366 887 1 89426956 89426956 C T exonic CCBL2 NA synonymous SNV CCBL2:NM_001008662:exon7:c.G579A:p.E193E,CCBL2:NM_001008661:exon8:c.G681A:p.E227E exonic ENSG00000137944 NA synonymous SNV ENSG00000137944:ENST00000370491:exon7:c.G579A:p.E193E,ENSG00000137944:ENST00000260508:exon8:c.G681A:p.E227E,ENSG00000137944:ENST00000370486:exon9:c.G681A:p.E227E Score=554;Name=lod=238 NA 1p22.2 NA Name=MafK_(ab50322) NA NA rs12063768 0.03 0.03 0.024 0.0383387 0.002 NA 0.0159 0.1354 NA 0.0026 NA 0.02 0.1 0.0107 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211059 NA NA 0.000581 0.099183 NA 0.029 NA 7.6533856 887 19 13010520 13010520 A G exonic GCDH NA nonsynonymous SNV GCDH:NM_013976:exon12:c.A1250G:p.Q417R exonic ENSG00000105607 NA nonsynonymous SNV ENSG00000105607:ENST00000457854:exon12:c.A1250G:p.Q417R NA NA 19p13.2 NA NA NA NA rs8012 0.69 0.69 0.726 0.720447 0.5219 0.7768 0.6988 0.8563 0.6984 0.5 0.81 0.67 0.85 0.613 0.85 0.03 D 0.0 B 0.0 B . . 1.000 P . . -4.39 D -0.943 T 0.000 T 0.015 -0.861 0.525 -1.41 -0.796 0.326 6.972 -0.860606 NA 1 0.545422 0.824381 NA 0.652 NA 7.6530114 887 16 16208714 16208714 G A exonic ABCC1 NA synonymous SNV ABCC1:NM_004996:exon23:c.G3171A:p.L1057L exonic ENSG00000103222 NA synonymous SNV ENSG00000103222:ENST00000349029:exon21:c.G2826A:p.L942L,ENSG00000103222:ENST00000346370:exon22:c.G3003A:p.L1001L,ENSG00000103222:ENST00000351154:exon22:c.G2994A:p.L998L,ENSG00000103222:ENST00000345148:exon23:c.G3171A:p.L1057L,ENSG00000103222:ENST00000399410:exon23:c.G3171A:p.L1057L,ENSG00000103222:ENST00000399408:exon24:c.G3201A:p.L1067L Score=412;Name=lod=63 NA 16p13.11 Score=760;Name=V$PAX6_01 NA NA NA rs191017838 0.0005 0.0005 NA 0.000798722 0.003 NA 0.0014 NA NA 0.0013 NA NA NA 0.0034 0.0077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003538 NA NA 0.007705 0.001157 NA NA NA 7.6525616 887 3 13612936 13612936 A G exonic FBLN2 NA nonsynonymous SNV FBLN2:NM_001004019:exon2:c.A1081G:p.S361G,FBLN2:NM_001165035:exon2:c.A1081G:p.S361G,FBLN2:NM_001998:exon2:c.A1081G:p.S361G exonic ENSG00000163520 NA nonsynonymous SNV ENSG00000163520:ENST00000295760:exon2:c.A1081G:p.S361G,ENSG00000163520:ENST00000404922:exon2:c.A1081G:p.S361G,ENSG00000163520:ENST00000492059:exon2:c.A1081G:p.S361G,ENSG00000163520:ENST00000535798:exon2:c.A1159G:p.S387G NA NA 3p25.1 NA NA Name=3 NA rs3732666 0.42 0.42 0.391 0.467452 0.1869 0.5496 0.2824 0.7587 0.409 0.18 0.59 0.27 0.7 0.2967 0.7 0.43 T 0.0 B 0.0 B 0.002 N 1.000 P 0 N -1.19 T -0.942 T 0.000 T 0.055 0.327 5.775 1.9 -0.056 -0.151 4.897 0.327445 NA 0.39 0.197238 0.655974 NA 0.522 NA 7.6524954 887 8 26220321 26220321 A G exonic PPP2R2A NA synonymous SNV PPP2R2A:NM_001177591:exon7:c.A789G:p.L263L,PPP2R2A:NM_002717:exon7:c.A759G:p.L253L exonic ENSG00000221914 NA synonymous SNV ENSG00000221914:ENST00000524169:exon3:c.A96G:p.L32L,ENSG00000221914:ENST00000315985:exon7:c.A789G:p.L263L,ENSG00000221914:ENST00000380737:exon7:c.A759G:p.L253L Score=641;Name=lod=536 NA 8p21.2 Score=830;Name=V$E4BP4_01 NA NA NA rs142156798 0.0032 0.0032 NA 0.00279553 0.008 NA 0.0086 NA NA 0.01 NA 0.01 NA 0.004 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114223 NA NA 0.002442 0.000681 NA NA NA 7.6522246 887 19 41354553 41354553 C T exonic CYP2A6 NA synonymous SNV CYP2A6:NM_000762:exon3:c.G459A:p.A153A exonic ENSG00000255974 NA synonymous SNV ENSG00000255974:ENST00000301141:exon3:c.G459A:p.A153A NA NA 19q13.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=24 NA rs28399441 0.04 0.04 0.031 0.0463259 NA NA 0.013 0.1687 NA 0.0013 NA 0.02 0.14 0.0139 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520837 NA NA 0.000582 0.139809 NA 0.051 NA 7.6521846 887 3 52558008 52558008 T C exonic STAB1 NA nonsynonymous SNV STAB1:NM_015136:exon67:c.T7517C:p.M2506T exonic ENSG00000010327 NA nonsynonymous SNV ENSG00000010327:ENST00000321725:exon67:c.T7517C:p.M2506T NA NA 3p21.1 NA NA NA NA rs13303 0.6 0.6 0.593 0.548522 0.5656 0.4524 0.6513 0.7141 0.3333 0.57 0.51 0.66 0.69 0.5453 0.69 0.76 T 0.0 B 0.0 B 0.698 N 1.000 P -1.39 N -1.77 D -0.945 T 0.000 T 0.411 -1.585 0.014 3.6 0.819 -0.595 6.319 -1.58471 NA 0.82 0.570414 0.651295 NA 0.543 NA 7.6520194 887 10 71176012 71176012 A G exonic TACR2 NA nonsynonymous SNV TACR2:NM_001057:exon1:c.T68C:p.I23T exonic ENSG00000075073 NA nonsynonymous SNV ENSG00000075073:ENST00000373306:exon1:c.T68C:p.I23T NA NA 10q22.1 NA NA NA NA rs5030920 0.22 0.22 0.222 0.24361 0.2356 0.0546 0.1758 0.4002 0.2832 0.24 0.05 0.19 0.4 0.2223 0.4 0.49 T 0.0 B 0.0 B 0.291 N 1.000 P 0.805 L 1.23 T -0.914 T 0.000 T 0.05 -0.587 1.368 2.83 0.431 0.208 7.330 -0.586835 NA 0.44 0.224419 0.374262 ID=COSM1348802;OCCURENCE=1(large_intestine) 0.312 NA 7.6510144 887 2 1842968 1842968 T C exonic MYT1L NA synonymous SNV MYT1L:NM_015025:exon21:c.A3027G:p.G1009G exonic ENSG00000186487 NA synonymous SNV ENSG00000186487:ENST00000399157:exon2:c.A195G:p.G65G,ENSG00000186487:ENST00000407844:exon3:c.A21G:p.G7G,ENSG00000186487:ENST00000399161:exon21:c.A3033G:p.G1011G,ENSG00000186487:ENST00000428368:exon21:c.A3027G:p.G1009G NA NA 2p25.3 Score=693;Name=V$BRACH_01 Name=CTCF Name=4 NA rs6728368 0.49 0.49 0.467 0.456669 0.3121 0.6558 0.3141 0.5575 0.365 0.32 0.63 0.33 0.69 0.367 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22874 NA NA 0.337151 0.624268 NA 0.435 NA 7.6504156 887 6 31084787 31084787 A G exonic CDSN NA nonsynonymous SNV CDSN:NM_001264:exon2:c.T605C:p.F202S exonic ENSG00000204539 NA nonsynonymous SNV ENSG00000204539:ENST00000376288:exon2:c.T605C:p.F202S NA NA 6p21.33 NA NA NA NA rs707913 0.3 0.3 0.265 0.28095 0.2336 0.3403 0.3314 0.4009 0.0706 0.22 0.31 0.34 0.37 0.2313 0.37 0.45 T . . . . 0.353 N 1.000 P . . 3.82 T -0.913 T 0.003 T 0.041 -1.273 0.044 1.41 0.413 2.133 6.085 -1.27271 NA 0.92 0.21814 0.358148 NA 0.239 NA 7.6502934 887 16 88744949 88744949 G T exonic SNAI3 NA synonymous SNV SNAI3:NM_178310:exon3:c.C786A:p.A262A exonic ENSG00000185669 NA synonymous SNV ENSG00000185669:ENST00000332281:exon3:c.C786A:p.A262A Score=439;Name=lod=81 NA 16q24.3 Score=812;Name=V$CDPCR3_01 NA NA NA rs139375690 0.0023 0.0023 0.002 0.00419329 0.0089 NA 0.0029 NA 0.0102 0.004 NA 0.01 NA 0.0046 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317645 NA NA 0.00407 0.000227 NA NA NA 7.6490966 887 21 44299573 44299573 C T exonic WDR4 NA synonymous SNV WDR4:NM_001260474:exon1:c.G33A:p.G11G,WDR4:NM_018669:exon1:c.G33A:p.G11G,WDR4:NM_033661:exon1:c.G33A:p.G11G exonic ENSG00000160193 NA synonymous SNV ENSG00000160193:ENST00000330317:exon1:c.G33A:p.G11G,ENSG00000160193:ENST00000398208:exon1:c.G33A:p.G11G NA NA 21q22.3 Score=793;Name=V$CMYB_01 Name=CEBPB,Max,ELF1_(SC-631),NRSF,Pol2,Pol2(phosphoS2),YY1_(C-20),BRCA1_(C-1863),E2F6,eGFP-JunD,USF1_(SC-8983),ETS1,TAF1,E2F4,GABP,USF-1,THAP1_(SC-98174),c-Myc,HEY1,NFKB,SRF,GRp20,YY1,c-Jun,HA-E2F1,Sin3Ak-20,Pol2-4H8,HDAC2_(SC-6296),ZNF263 NA NA rs138295040 0.0023 0.0023 NA 0.00299521 0.008 0.001 0.0029 NA 0.0041 0.01 0.0017 NA NA 0.0045 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.017281 2.017281 NA 0.005815 0.000454 NA NA NA 7.6483516 887 6 39041502 39041502 A C exonic GLP1R NA nonsynonymous SNV GLP1R:NM_002062:exon7:c.A780C:p.L260F exonic ENSG00000112164 NA nonsynonymous SNV ENSG00000112164:ENST00000373256:exon7:c.A780C:p.L260F Score=391;Name=lod=52 NA 6p21.2 NA NA NA NA rs1042044 0.57 0.57 0.539 0.578474 0.5626 0.5506 0.5937 0.5885 0.5992 0.55 0.52 0.6 0.63 0.5638 0.69 1 T 0.0 B 0.006 B 0.000 N 1.000 P -1.655 N 1.0 T -0.946 T 0.007 T 0.086 -0.945 0.35 3.88 0.766 0.906 6.368 -0.945358 NA 1 0.558837 0.580345 NA 0.696 NA 7.6480964 887 19 56487603 56487603 A G exonic NLRP8 NA nonsynonymous SNV NLRP8:NM_176811:exon8:c.A2810G:p.K937R exonic ENSG00000179709 NA nonsynonymous SNV ENSG00000179709:ENST00000291971:exon8:c.A2810G:p.K937R,ENSG00000179709:ENST00000590542:exon8:c.A2753G:p.K918R NA NA 19q13.43 NA NA NA NA rs306481 0.55 0.55 0.515 0.563099 0.5537 0.6657 0.6037 0.4024 0.6554 0.56 0.65 0.6 0.41 0.5763 0.65 0.72 T 0.018 B 0.03 B . . 1.000 P 0.205 N -0.02 T -0.952 T 0.000 T 0.016 -1.47 0.018 -5.02 -1.533 -0.429 2.550 -1.47015 NA 0.55 0.555581 0.408761 NA 0.399 NA 7.6477524 887 14 60938319 60938319 T C exonic C14orf39 NA synonymous SNV C14orf39:NM_174978:exon6:c.A462G:p.A154A exonic ENSG00000179008 NA synonymous SNV ENSG00000179008:ENST00000321731:exon6:c.A462G:p.A154A Score=517;Name=lod=168 NA 14q23.1 Score=895;Name=V$MSX1_01 NA NA NA rs35543839 0.0032 0.0032 0.001 0.00319489 0.006 0.001 0.0014 0.0008 0.0072 0.01 0.0017 0.0028 0.002 0.0055 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.217291 NA NA 0.007454 0.001817 NA 0.051 NA 7.6477126 887 3 48694471 48694471 C T exonic CELSR3 NA synonymous SNV CELSR3:NM_001407:exon2:c.G4059A:p.Q1353Q exonic ENSG00000008300 NA synonymous SNV ENSG00000008300:ENST00000164024:exon2:c.G4059A:p.Q1353Q,ENSG00000008300:ENST00000544264:exon2:c.G4059A:p.Q1353Q Score=560;Name=lod=251 NA 3p21.31 NA NA Name=7 NA rs145229058 0.0027 0.0027 0.003 0.00159744 0.005 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.006 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199285 NA NA 0.008843 0.001136 ID=COSM166490;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 7.6468236 887 4 24838984 24838984 G A exonic CCDC149 NA synonymous SNV CCDC149:NM_001130726:exon6:c.C528T:p.D176D,CCDC149:NM_173463:exon7:c.C528T:p.D176D exonic ENSG00000181982 NA synonymous SNV ENSG00000181982:ENST00000504487:exon6:c.C528T:p.D176D,ENSG00000181982:ENST00000389609:exon7:c.C528T:p.D176D Score=425;Name=lod=71 NA 4p15.2 Score=763;Name=V$PAX6_01 NA NA NA rs58692972 0.01 0.01 0.006 0.0107827 0.007 0.001 0.0216 0.0204 0.0041 0.0026 NA 0.02 0.02 0.0076 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522665 NA NA 0.00593 0.02542 NA 0.022 NA 7.6461366 887 6 117622184 117622184 G C exonic ROS1 NA nonsynonymous SNV ROS1:NM_002944:exon42:c.C6686G:p.S2229C exonic ENSG00000047936 NA nonsynonymous SNV ENSG00000047936:ENST00000368508:exon42:c.C6686G:p.S2229C,ENSG00000047936:ENST00000368507:exon43:c.C6668G:p.S2223C NA NA 6q22.1 NA NA NA NA rs619203 0.16 0.16 0.145 0.139377 0.2197 0.1587 0.1657 0.0386 0.1544 0.23 0.15 0.17 0.04 0.208 0.26 0.25 T 0.0 B 0.0 B 0.302 N 1.000 P -0.805 N -0.58 T -1.075 T 0.038 T 0.055 -0.574 1.417 2.24 0.089 -0.046 2.093 -0.57399 NA 0.31 0.259767 0.074217 ID=COSM150168;OCCURENCE=1(stomach) 0.087 NA 7.6458664 887 16 67220479 67220479 G A exonic EXOC3L1 NA synonymous SNV EXOC3L1:NM_178516:exon8:c.C1366T:p.L456L exonic ENSG00000179044 NA synonymous SNV ENSG00000179044:ENST00000545725:exon7:c.C1057T:p.L353L,ENSG00000179044:ENST00000563889:exon7:c.C1072T:p.L358L,ENSG00000179044:ENST00000314586:exon8:c.C1366T:p.L456L Score=412;Name=lod=63 NA 16q22.1 NA NA Name=42 NA rs75613564 0.0032 0.0032 0.003 0.00199681 0.008 NA 0.0014 0.0008 NA 0.01 NA 0.0028 NA 0.0051 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896996 NA NA 0.008023 0.00182 NA NA NA 7.6455436 887 10 48388783 48388783 A G exonic RBP3 NA synonymous SNV RBP3:NM_002900:exon1:c.T2095C:p.L699L exonic ENSG00000107618 NA synonymous SNV ENSG00000107618:ENST00000224600:exon1:c.T2095C:p.L699L Score=527;Name=lod=184 NA 10q11.22 Score=786;Name=V$COMP1_01 NA NA NA rs17095789 0.05 0.05 0.052 0.0640974 0.002 NA 0.0187 0.2315 NA 0.0013 NA 0.02 0.22 0.018 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312748 NA NA 0.001631 0.179464 NA 0.065 NA 7.6450356 888 9 116811184 116811184 G A exonic ZNF618 NA synonymous SNV ZNF618:NM_133374:exon14:c.G1323A:p.K441K exonic ENSG00000157657 NA synonymous SNV ENSG00000157657:ENST00000288466:exon14:c.G1323A:p.K441K,ENSG00000157657:ENST00000374126:exon15:c.G1602A:p.K534K Score=641;Name=lod=535 NA 9q32 Score=814;Name=V$ER_Q6 NA NA NA rs7852282 0.07 0.07 0.07 0.067492 NA NA 0.0303 0.2375 0.0031 NA NA 0.04 0.27 0.02 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152126 NA NA 0.002108 0.183664 NA 0.043 NA 7.6445586 888 15 68583172 68583172 C G exonic FEM1B NA synonymous SNV FEM1B:NM_015322:exon2:c.C1476G:p.V492V exonic ENSG00000169018 NA synonymous SNV ENSG00000169018:ENST00000306917:exon2:c.C1476G:p.V492V Score=428;Name=lod=73 NA 15q23 Score=707;Name=V$BRACH_01 NA NA NA rs143637660 0.0032 0.0032 0.002 0.00219649 0.0099 NA NA NA 0.001 0.01 NA NA NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.375857 NA NA 0.006515 0.000909 NA NA NA 7.6443516 888 6 44272382 44272382 C T exonic AARS2 NA synonymous SNV AARS2:NM_020745:exon12:c.G1752A:p.E584E exonic ENSG00000124608 NA synonymous SNV ENSG00000124608:ENST00000244571:exon12:c.G1752A:p.E584E Score=439;Name=lod=81 NA 6p21.1 Score=904;Name=V$AREB6_02 NA NA NA rs78525157 0.01 0.01 0.005 0.0133786 0.0089 0.002 0.013 0.0053 0.0409 0.01 0.0017 0.01 0.0041 0.0088 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.133188 NA NA 0.005465 0.004312 NA 0.014 NA 7.6435016 888 1 1686040 1686040 G T exonic NADK NA nonsynonymous SNV NADK:NM_001198995:exon6:c.C690A:p.N230K,NADK:NM_001198993:exon8:c.C786A:p.N262K,NADK:NM_023018:exon8:c.C786A:p.N262K,NADK:NM_001198994:exon10:c.C1221A:p.N407K exonic ENSG00000008130 NA nonsynonymous SNV ENSG00000008130:ENST00000342348:exon6:c.C690A:p.N230K,ENSG00000008130:ENST00000341426:exon8:c.C786A:p.N262K,ENSG00000008130:ENST00000341991:exon8:c.C786A:p.N262K,ENSG00000008130:ENST00000344463:exon10:c.C1221A:p.N407K,ENSG00000008130:ENST00000378625:exon10:c.C1221A:p.N407K NA NA 1p36.33 NA NA NA NA rs4751 0.28 0.28 0.264 0.249401 0.4115 0.2837 0.2651 0.0499 0.3057 0.41 0.3 0.29 0.05 0.3564 0.42 0.45 T 0.562 P 0.229 B 0.000 D 0.867 P 1.59 L 0.94 T -0.956 T 0.000 T 0.099 0.426 6.316 -1.93 -0.622 -0.842 13.146 0.426413 NA 0.14 0.422558 0.112574 ID=COSM1472949,COSM424509;OCCURENCE=1(breast) 0.319 NA 7.6428754 888 3 8579093 8579093 C T exonic LMCD1 NA synonymous SNV LMCD1:NM_014583:exon3:c.C354T:p.Y118Y exonic ENSG00000071282 NA synonymous SNV ENSG00000071282:ENST00000426878:exon1:c.C225T:p.Y75Y,ENSG00000071282:ENST00000454244:exon2:c.C135T:p.Y45Y,ENSG00000071282:ENST00000157600:exon3:c.C354T:p.Y118Y,ENSG00000071282:ENST00000535732:exon3:c.C354T:p.Y118Y,ENSG00000071282:ENST00000415597:exon4:c.C372T:p.Y124Y Score=561;Name=lod=253 NA 3p26.1 Score=708;Name=V$HOX13_01 NA NA NA rs139605755 0.0046 0.0046 0.003 0.00279553 0.006 NA 0.0086 NA 0.002 0.01 NA 0.01 NA 0.0073 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065876 NA NA 0.01093 0.002724 NA NA NA 7.6424366 888 1 155880573 155880573 C G exonic RIT1 NA nonsynonymous SNV RIT1:NM_001256821:exon2:c.G31C:p.E11Q exonic ENSG00000143622 NA nonsynonymous SNV ENSG00000143622:ENST00000368322:exon2:c.G31C:p.E11Q NA NA 1q22 NA Name=CTCF,Pol2 Name=85 NA rs493446 0.81 0.81 0.787 0.779952 0.8926 0.9405 0.9078 0.4334 0.8763 0.9 0.93 0.91 0.45 0.8775 0.93 0.49 T . . . . . . 0.997 P . . -0.21 T -1.065 T 0.078 T 0.022 -1.365 0.027 -0.379 -0.357 1.320 7.464 -1.365295 NA 0.51 0.921628 0.54857 NA 0.681 NA 7.6416054 888 3 145913061 145913061 G T exonic PLSCR4 NA synonymous SNV PLSCR4:NM_001177304:exon5:c.C480A:p.S160S,PLSCR4:NM_001128306:exon6:c.C525A:p.S175S,PLSCR4:NM_001128305:exon8:c.C795A:p.S265S,PLSCR4:NM_020353:exon8:c.C795A:p.S265S,PLSCR4:NM_001128304:exon10:c.C795A:p.S265S exonic ENSG00000114698 NA synonymous SNV ENSG00000114698:ENST00000433593:exon5:c.C480A:p.S160S,ENSG00000114698:ENST00000383083:exon6:c.C525A:p.S175S,ENSG00000114698:ENST00000354952:exon8:c.C795A:p.S265S,ENSG00000114698:ENST00000446574:exon8:c.C795A:p.S265S,ENSG00000114698:ENST00000493382:exon10:c.C795A:p.S265S NA NA 3q24 NA Name=Pol2(b),c-Fos,GATA-2,c-Jun Name=22 NA rs34467190 0.0037 0.0037 0.003 0.00379393 0.0129 NA 0.0014 0.0008 0.0041 0.01 NA NA NA 0.0057 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183986 NA NA 0.007093 0.001362 NA 0.007 NA 7.6409736 888 7 129855837 129855837 C T exonic SSMEM1 NA nonsynonymous SNV SSMEM1:NM_145268:exon3:c.C262T:p.R88W exonic ENSG00000165120 NA nonsynonymous SNV ENSG00000165120:ENST00000297819:exon3:c.C262T:p.R88W NA NA 7q32.2 NA NA NA NA rs4728190 0.19 0.19 0.209 0.186901 0.2366 0.0069 0.1499 0.357 0.1176 0.24 0.0017 0.17 0.36 0.2175 0.36 0.14 T 0.002 B 0.0 B 0.396 N 1.000 P 0.83 L 0.77 T -0.964 T 0.000 T 0.104 0.027 4.155 -2.95 -0.684 -0.011 2.006 0.027164 NA 0.13 0.239186 0.344076 NA 0.246 NA 7.6400474 888 19 1256998 1256998 C T exonic MIDN NA synonymous SNV MIDN:NM_177401:exon8:c.C1134T:p.D378D exonic ENSG00000167470 NA synonymous SNV ENSG00000167470:ENST00000591446:exon7:c.C1134T:p.D378D,ENSG00000167470:ENST00000300952:exon8:c.C1134T:p.D378D Score=483;Name=lod=123 NA 19p13.3 NA Name=Pol2 Name=7 NA rs9823 0.33 0.33 0.283 0.301917 0.3479 0.4901 0.3444 0.0825 0.3272 0.34 0.52 0.34 0.1 0.3374 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082531 NA NA 0.341566 0.124035 ID=COSM438607;OCCURENCE=2(breast) 0.239 NA 7.6398006 888 1 173516871 173516871 G C exonic SLC9C2 NA nonsynonymous SNV SLC9C2:NM_178527:exon13:c.C1514G:p.A505G exonic ENSG00000162753 NA nonsynonymous SNV ENSG00000162753:ENST00000536496:exon12:c.C1208G:p.A403G,ENSG00000162753:ENST00000367714:exon13:c.C1514G:p.A505G Score=486;Name=lod=126 NA 1q25.1 NA NA NA NA rs16846206 0.32 0.32 0.284 0.334665 0.2107 0.6448 0.3256 0.1293 0.4264 0.22 0.62 0.31 0.14 0.2771 0.62 0.27 T 0.167 B 0.034 B 0.422 N 0.999 P 0 N 1.8 T -0.947 T 0.009 T 0.016 1.259 10.1 -0.206 0.035 0.324 4.598 1.258637 1.258637 0.06 0.20593 0.132547 NA 0.268 NA 7.6396034 888 3 49688155 49688155 C T exonic BSN NA synonymous SNV BSN:NM_003458:exon4:c.C1629T:p.A543A exonic ENSG00000164061 NA synonymous SNV ENSG00000164061:ENST00000296452:exon4:c.C1629T:p.A543A Score=361;Name=lod=39 NA 3p21.31 Score=710;Name=V$NRSF_01 NA NA NA rs139787101 0.01 0.01 0.004 0.00219649 0.0089 NA 0.0014 0.0008 NA 0.01 NA 0.01 NA 0.0091 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50166 NA NA 0.009537 0.001817 NA NA NA 7.6391296 888 21 42817930 42817930 G A exonic MX1 NA nonsynonymous SNV MX1:NM_001178046:exon11:c.G1135A:p.V379I,MX1:NM_002462:exon13:c.G1135A:p.V379I,MX1:NM_001144925:exon15:c.G1135A:p.V379I exonic ENSG00000157601 NA nonsynonymous SNV ENSG00000157601:ENST00000288383:exon9:c.G1066A:p.V356I,ENSG00000157601:ENST00000455164:exon11:c.G1135A:p.V379I,ENSG00000157601:ENST00000398598:exon13:c.G1135A:p.V379I,ENSG00000157601:ENST00000398600:exon15:c.G1135A:p.V379I Score=401;Name=lod=57 NA 21q22.3 NA NA NA NA rs469390 0.43 0.43 0.42 0.461861 0.5885 0.2857 0.4496 0.444 0.546 0.56 0.23 0.46 0.44 0.5171 0.59 1 T 0.0 B 0.0 B 0.001 N 0.632 P -1.555 N -0.39 T -0.922 T 0.000 T 0.064 -1.129 0.119 2.29 0.350 0.915 6.626 -1.128583 NA 1 0.588953 0.448479 NA 0.493 NA 7.6387804 888 5 95757592 95757592 G A exonic PCSK1 NA synonymous SNV PCSK1:NM_000439:exon5:c.C612T:p.N204N,PCSK1:NM_001177875:exon5:c.C471T:p.N157N exonic ENSG00000175426 NA synonymous SNV ENSG00000175426:ENST00000311106:exon5:c.C612T:p.N204N,ENSG00000175426:ENST00000508626:exon5:c.C471T:p.N157N Score=655;Name=lod=612 NA 5q15 Score=870;Name=V$FOXO3_01 NA NA NA rs6231 0.06 0.06 0.072 0.0535144 0.006 0.0139 0.0173 0.1747 0.0051 0.01 0.01 0.02 0.23 0.0175 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870215 NA NA 0.004651 0.126872 NA 0.072 NA 7.6385156 888 17 76045806 76045806 C T exonic TNRC6C NA synonymous SNV TNRC6C:NM_001142640:exon4:c.C663T:p.H221H,TNRC6C:NM_018996:exon4:c.C663T:p.H221H exonic ENSG00000078687 NA synonymous SNV ENSG00000078687:ENST00000541771:exon1:c.C663T:p.H221H,ENSG00000078687:ENST00000544502:exon1:c.C663T:p.H221H,ENSG00000078687:ENST00000301624:exon3:c.C663T:p.H221H,ENSG00000078687:ENST00000335749:exon3:c.C663T:p.H221H,ENSG00000078687:ENST00000588061:exon5:c.C663T:p.H221H,ENSG00000078687:ENST00000588847:exon5:c.C663T:p.H221H Score=566;Name=lod=267 NA 17q25.3 Score=802;Name=V$PAX5_02 NA NA NA rs141190761 0.0041 0.0041 0.002 0.0109824 0.004 0.0069 0.0144 0.0015 0.0327 0.004 0.0035 0.01 NA 0.0141 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009761 NA NA 0.011421 0.003032 NA 0.007 NA 7.6371456 888 2 40342600 40342600 G T exonic SLC8A1 NA synonymous SNV SLC8A1:NM_001112801:exon8:c.C2676A:p.G892G,SLC8A1:NM_001112802:exon8:c.C2607A:p.G869G,SLC8A1:NM_001112800:exon9:c.C2700A:p.G900G,SLC8A1:NM_001252624:exon9:c.C2691A:p.G897G,SLC8A1:NM_021097:exon10:c.C2715A:p.G905G exonic ENSG00000183023 NA synonymous SNV ENSG00000183023:ENST00000406391:exon7:c.C2607A:p.G869G,ENSG00000183023:ENST00000542024:exon7:c.C2607A:p.G869G,ENSG00000183023:ENST00000402441:exon8:c.C2607A:p.G869G,ENSG00000183023:ENST00000405269:exon8:c.C2607A:p.G869G,ENSG00000183023:ENST00000406785:exon8:c.C2607A:p.G869G,ENSG00000183023:ENST00000405901:exon9:c.C2700A:p.G900G,ENSG00000183023:ENST00000408028:exon9:c.C2691A:p.G897G,ENSG00000183023:ENST00000332839:exon10:c.C2715A:p.G905G,ENSG00000183023:ENST00000542756:exon10:c.C2700A:p.G900G,ENSG00000183023:ENST00000403092:exon11:c.C2715A:p.G905G Score=507;Name=lod=154 NA 2p22.1 Score=865;Name=V$AHRARNT_01 NA NA NA rs148215685 0.01 0.01 0.003 0.00459265 0.0119 NA 0.0072 0.0008 0.0051 0.01 NA 0.01 0.002 0.0074 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428484 NA NA 0.010349 0.002043 NA 0.014 NA 7.6370176 888 7 889169 889169 A G intronic SUN1 NA NA NA exonic ENSG00000164828 NA nonsynonymous SNV ENSG00000164828:ENST00000413514:exon2:c.A113G:p.Y38C,ENSG00000164828:ENST00000429178:exon3:c.A362G:p.Y121C,ENSG00000164828:ENST00000456758:exon10:c.A1043G:p.Y348C NA NA 7p22.3 Score=768;Name=V$LUN1_01 NA NA NA rs74742245 0.16 0.16 0.143 0.172125 0.1849 0.1369 0.2378 0.0915 0.2577 0.18 0.16 0.24 0.09 0.1848 0.24 0.13 T 0.01 B 0.01 B . . 0.996 P . . 1.98 T -0.971 T 0.000 T 0.16 2.02 12.71 -2.89 -0.778 0.794 1.561 2.019643 2.019643 0 0.161477 0.101598 NA 0.13 NA 7.6354897 888 11 117097931 117097931 C T exonic PCSK7 NA synonymous SNV PCSK7:NM_004716:exon5:c.G711A:p.A237A exonic ENSG00000160613 NA synonymous SNV ENSG00000160613:ENST00000525027:exon3:c.G711A:p.A237A,ENSG00000160613:ENST00000320934:exon5:c.G711A:p.A237A NA NA 11q23.3 Score=773;Name=V$HEN1_02 NA NA Score=80;Name=466019_0_+_80 rs45528535 0.05 0.05 0.046 0.0453275 0.0119 NA 0.0375 0.1415 0.002 0.01 NA 0.04 0.17 0.0157 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575707 NA NA 0.003608 0.121536 NA 0.058 NA 7.6354586 888 10 135012162 135012162 T C exonic KNDC1 NA nonsynonymous SNV KNDC1:NM_152643:exon14:c.T2150C:p.L717P exonic ENSG00000171798 NA nonsynonymous SNV ENSG00000171798:ENST00000368571:exon13:c.T1955C:p.L652P,ENSG00000171798:ENST00000304613:exon14:c.T2150C:p.L717P,ENSG00000171798:ENST00000368572:exon14:c.T2150C:p.L717P NA NA 10q26.3 NA NA NA NA rs2998139 0.55 0.55 0.537 0.557907 0.5308 0.6121 0.4914 0.5182 0.6309 0.55 0.64 0.51 0.47 0.6023 0.64 0.27 T 0.0 B 0.0 B 0.686 N 1.000 P -1.24 N 2.83 T -0.964 T 0.000 T 0.016 0.652 7.498 2.82 0.768 1.349 6.014 0.652101 NA 0.13 0.564992 0.549234 ID=COSM427278;OCCURENCE=1(breast) 0.536 NA 7.6352414 889 5 151772028 151772028 G T exonic NMUR2 NA synonymous SNV NMUR2:NM_020167:exon4:c.C972A:p.P324P exonic ENSG00000132911 NA synonymous SNV ENSG00000132911:ENST00000255262:exon4:c.C972A:p.P324P Score=540;Name=lod=209 NA 5q33.1 Score=824;Name=V$TAXCREB_01 NA NA NA rs35771607 0.0032 0.0032 0.002 0.00259585 0.0109 NA 0.0029 NA NA 0.01 NA 0.0028 NA 0.0088 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021459 NA NA 0.012326 0.001135 NA NA NA 7.6346406 889 1 232574921 232574921 T C exonic SIPA1L2 NA nonsynonymous SNV SIPA1L2:NM_020808:exon13:c.A3964G:p.T1322A exonic ENSG00000116991 NA nonsynonymous SNV ENSG00000116991:ENST00000308942:exon7:c.A1186G:p.T396A,ENSG00000116991:ENST00000262861:exon13:c.A3964G:p.T1322A,ENSG00000116991:ENST00000366630:exon14:c.A3964G:p.T1322A NA NA 1q42.2 NA NA NA NA rs2275307 0.34 0.34 0.325 0.352236 0.2008 0.4643 0.3473 0.41 0.318 0.19 0.48 0.33 0.42 0.2822 0.48 1 T 0.0 B 0.0 B 0.443 N 1.000 P -1.245 N 2.89 T -1.038 T 0.000 T 0.025 -1.93 0.008 -1.91 -0.905 1.127 7.352 -1.930233 NA 0.88 0.215944 0.385893 NA 0.406 NA 7.6343894 889 2 179396573 179396573 T G exonic TTN NA synonymous SNV TTN:NM_003319:exon186:c.A77574C:p.T25858T,TTN:NM_133432:exon187:c.A77949C:p.T25983T,TTN:NM_133437:exon187:c.A78150C:p.T26050T,TTN:NM_133378:exon307:c.A97065C:p.T32355T,TTN:NM_001256850:exon308:c.A99846C:p.T33282T,TTN:NM_001267550:exon358:c.A104769C:p.T34923T exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000460472:exon186:c.A77574C:p.T25858T,ENSG00000155657:ENST00000342175:exon187:c.A78150C:p.T26050T,ENSG00000155657:ENST00000359218:exon187:c.A77949C:p.T25983T,ENSG00000155657:ENST00000342992:exon307:c.A97065C:p.T32355T,ENSG00000155657:ENST00000591111:exon308:c.A99846C:p.T33282T,ENSG00000155657:ENST00000589042:exon358:c.A104769C:p.T34923T Score=619;Name=lod=436 NA 2q31.2 NA NA NA NA rs56375087 0.01 0.01 0.003 0.00379393 0.0159 NA 0.0043 NA NA 0.02 NA 0.01 NA 0.01 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469225 NA NA 0.006771 0.000517 NA NA CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040946.1|RCV000125986.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.6339956 889 20 62593704 62593704 G A exonic ZNF512B NA synonymous SNV ZNF512B:NM_020713:exon14:c.C2187T:p.L729L exonic ENSG00000196700 NA synonymous SNV ENSG00000196700:ENST00000217130:exon14:c.C2187T:p.L729L,ENSG00000196700:ENST00000369888:exon14:c.C2187T:p.L729L,ENSG00000196700:ENST00000450537:exon14:c.C2187T:p.L729L Score=485;Name=lod=125 NA 20q13.33 Score=959;Name=V$MZF1_01 NA NA NA rs817322 0.01 0.01 0.007 0.00998403 0.0129 NA 0.0058 0.0234 0.002 0.01 NA 0.0028 0.02 0.0102 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923551 NA NA 0.010233 0.02542 NA 0.014 NA 7.6333336 889 4 37592128 37592128 G A exonic C4orf19 NA nonsynonymous SNV C4orf19:NM_018302:exon3:c.G451A:p.A151T,C4orf19:NM_001104629:exon4:c.G451A:p.A151T exonic ENSG00000154274 NA nonsynonymous SNV ENSG00000154274:ENST00000284437:exon3:c.G451A:p.A151T,ENSG00000154274:ENST00000381980:exon4:c.G451A:p.A151T NA NA 4p14 NA NA NA NA rs2973275 0.17 0.17 0.16 0.128195 0.2545 0.0784 0.1499 0.0469 0.1442 0.26 0.11 0.17 0.09 0.1983 0.26 0.87 T 0.06 B 0.082 B 0.744 N 1.000 P 0.805 L 1.35 T -0.982 T 0.000 T 0.031 1.003 9.098 2.33 0.381 0.494 6.402 1.003456 NA 0.37 0.247209 0.087608 NA 0.181 NA 7.6333244 889 17 55191888 55191888 C T exonic AKAP1 NA synonymous SNV AKAP1:NM_003488:exon6:c.C2172T:p.F724F,AKAP1:NM_001242902:exon7:c.C2172T:p.F724F,AKAP1:NM_001242903:exon7:c.C2172T:p.F724F exonic ENSG00000121057 NA synonymous SNV ENSG00000121057:ENST00000575032:exon1:c.C39T:p.F13F,ENSG00000121057:ENST00000573326:exon5:c.C918T:p.F306F,ENSG00000121057:ENST00000337714:exon6:c.C2172T:p.F724F,ENSG00000121057:ENST00000539273:exon6:c.C2172T:p.F724F,ENSG00000121057:ENST00000572557:exon6:c.C2172T:p.F724F,ENSG00000121057:ENST00000571629:exon7:c.C2172T:p.F724F Score=555;Name=lod=241 NA 17q22 NA Name=c-Myc NA NA rs61751974 0.01 0.01 0.007 0.00898562 0.0169 NA 0.0072 NA 0.0235 0.02 NA 0.01 NA 0.0106 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409762 1.409762 NA 0.007791 0.002043 NA 0.014 NA 7.6313756 889 19 12243900 12243900 A G exonic ZNF20 NA synonymous SNV ZNF20:NM_001203250:exon4:c.T1092C:p.Y364Y,ZNF20:NM_021143:exon4:c.T1101C:p.Y367Y exonic ENSG00000132010 NA synonymous SNV ENSG00000132010:ENST00000334213:exon4:c.T1101C:p.Y367Y Score=378;Name=lod=46 NA 19p13.2 NA Name=SETDB1 NA NA rs144638502 0.01 0.01 0.005 0.00539137 0.0149 NA 0.0058 NA 0.0082 0.02 NA 0.0028 NA 0.0093 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245253 NA NA 0.012812 0.002963 NA 0.014 NA 7.6296546 889 19 3750615 3750615 T C exonic TJP3 NA nonsynonymous SNV TJP3:NM_001267560:exon21:c.T2693C:p.M898T,TJP3:NM_001267561:exon21:c.T2720C:p.M907T exonic ENSG00000105289 NA nonsynonymous SNV ENSG00000105289:ENST00000262968:exon20:c.T2792C:p.M931T,ENSG00000105289:ENST00000539908:exon20:c.T2585C:p.M862T,ENSG00000105289:ENST00000587686:exon20:c.T2750C:p.M917T,ENSG00000105289:ENST00000382008:exon21:c.T2735C:p.M912T,ENSG00000105289:ENST00000541714:exon21:c.T2693C:p.M898T,ENSG00000105289:ENST00000589378:exon21:c.T2720C:p.M907T NA NA 19p13.3 NA NA NA NA rs1046268 0.54 0.54 0.484 0.533347 0.5636 0.6389 0.6873 0.2958 0.6053 0.54 0.68 0.67 0.28 0.5862 0.68 1 T 0.0 B 0.0 B 0.044 N 1.000 P -2.015 N 3.57 T -1.002 T 0.000 T 0.197 -2.887 0.001 2.44 0.153 1.347 4.909 -2.886655 NA 1 0.553979 0.354744 NA 0.572 NA 7.6295544 889 7 150773255 150773255 C T exonic SLC4A2 NA synonymous SNV SLC4A2:NM_001199693:exon21:c.C3600T:p.T1200T,SLC4A2:NM_001199694:exon21:c.C3585T:p.T1195T,SLC4A2:NM_001199692:exon22:c.C3627T:p.T1209T,SLC4A2:NM_003040:exon22:c.C3627T:p.T1209T exonic ENSG00000164889 NA synonymous SNV ENSG00000164889:ENST00000392826:exon21:c.C3600T:p.T1200T,ENSG00000164889:ENST00000461735:exon21:c.C3585T:p.T1195T,ENSG00000164889:ENST00000310317:exon22:c.C3381T:p.T1127T,ENSG00000164889:ENST00000413384:exon22:c.C3627T:p.T1209T,ENSG00000164889:ENST00000485713:exon22:c.C3627T:p.T1209T Score=572;Name=lod=282 NA 7q36.1 NA Name=ZNF263,Pol2 NA NA rs55913625 0.01 0.01 0.003 0.00479233 0.0129 NA 0.0058 0.0008 0.0061 0.01 NA 0.01 0.002 0.0093 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.323048 2.323048 NA 0.015581 0.001816 NA 0.007 NA 7.6288856 889 5 148207633 148207633 G A exonic ADRB2 NA synonymous SNV ADRB2:NM_000024:exon1:c.G1239A:p.L413L exonic ENSG00000169252 NA synonymous SNV ENSG00000169252:ENST00000305988:exon1:c.G1239A:p.L413L Score=366;Name=lod=41 NA 5q32 NA Name=c-Fos Name=31 NA rs1042720 0.48 0.48 0.496 0.508786 0.3131 0.6429 0.4438 0.5847 0.5153 0.32 0.65 0.39 0.59 0.3982 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675906 NA NA 0.32682 0.536314 NA 0.37 NA 7.6285466 889 1 1887245 1887245 G A exonic KIAA1751 NA synonymous SNV KIAA1751:NM_001080484:exon18:c.C2061T:p.A687A exonic ENSG00000142609 NA unknown UNKNOWN NA NA 1p36.33 NA Name=TCF4,FOXA1_(SC-101058) Name=5 NA rs28575980 0.22 0.22 0.209 0.18131 0.2316 0.2292 0.219 0.1044 0.1575 0.24 0.28 0.23 0.12 0.2267 0.28 . . . . . . . . 1.000 P . . . . -0.978 T 0.000 T . -0.205 3.005 -1.58 -0.723 0.129 5.120 -0.205185 NA NA 0.246613 0.125546 ID=COSM1626697;OCCURENCE=1(liver) 0.319 NA 7.6284203 889 8 110516653 110516653 T C exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon68:c.T10926C:p.H3642H exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000526472:exon14:c.T1710C:p.H570H,ENSG00000205038:ENST00000378402:exon68:c.T10926C:p.H3642H Score=662;Name=lod=652 NA 8q23.2 Score=863;Name=V$CDPCR1_01 NA NA NA rs73700608 0.05 0.05 0.049 0.048722 0.008 NA 0.0259 0.1634 0.002 0.01 NA 0.02 0.18 0.0214 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349422 NA NA 0.009109 0.144194 NA 0.007 NA 7.6281576 889 17 73230796 73230796 T C exonic NUP85 NA synonymous SNV NUP85:NM_024844:exon17:c.T1680C:p.L560L exonic ENSG00000125450 NA synonymous SNV ENSG00000125450:ENST00000579900:exon2:c.T99C:p.L33L,ENSG00000125450:ENST00000540768:exon7:c.T489C:p.L163L,ENSG00000125450:ENST00000447371:exon16:c.T1176C:p.L392L,ENSG00000125450:ENST00000541827:exon16:c.T1542C:p.L514L,ENSG00000125450:ENST00000579298:exon16:c.T1545C:p.L515L,ENSG00000125450:ENST00000579324:exon16:c.T1344C:p.L448L,ENSG00000125450:ENST00000245544:exon17:c.T1680C:p.L560L Score=361;Name=lod=39 NA 17q25.1 Score=771;Name=V$PAX2_01 NA NA NA rs35857535 0.09 0.09 0.082 0.105831 0.002 0.1002 0.0692 0.2209 0.089 0.004 0.06 0.07 0.26 0.0363 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202662 NA NA 0.002326 0.169542 NA 0.109 NA 7.6260406 890 16 4487486 4487486 G A exonic DNAJA3 NA synonymous SNV DNAJA3:NM_001135110:exon3:c.G429A:p.E143E,DNAJA3:NM_005147:exon3:c.G429A:p.E143E exonic ENSG00000103423 NA synonymous SNV ENSG00000103423:ENST00000262375:exon3:c.G429A:p.E143E,ENSG00000103423:ENST00000355296:exon3:c.G429A:p.E143E,ENSG00000103423:ENST00000574895:exon3:c.G429A:p.E143E Score=601;Name=lod=371 NA 16p13.3 Score=822;Name=V$CDC5_01 NA NA NA rs1062706 0.01 0.01 0.005 0.00678914 0.0139 0.003 0.0231 NA 0.001 0.01 0.0035 0.02 NA 0.0144 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.191106 2.191106 NA 0.013953 0.002731 NA 0.007 NA 7.6244136 890 20 44680424 44680424 G T exonic SLC12A5 NA synonymous SNV SLC12A5:NM_001134771:exon18:c.G2361T:p.G787G,SLC12A5:NM_020708:exon18:c.G2292T:p.G764G exonic ENSG00000124140 NA synonymous SNV ENSG00000124140:ENST00000243964:exon18:c.G2292T:p.G764G,ENSG00000124140:ENST00000454036:exon18:c.G2361T:p.G787G Score=657;Name=lod=622 NA 20q13.12 Score=778;Name=V$TAXCREB_02 NA NA NA rs79522550 0.01 0.01 0.006 0.00479233 0.0169 NA 0.0029 NA 0.0051 0.02 NA NA NA 0.0115 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132035 NA NA 0.014419 0.002951 NA NA NA 7.6238476 890 17 37340336 37340336 G A exonic CACNB1 NA synonymous SNV CACNB1:NM_000723:exon10:c.C846T:p.N282N,CACNB1:NM_199247:exon10:c.C981T:p.N327N,CACNB1:NM_199248:exon10:c.C846T:p.N282N exonic ENSG00000067191 NA synonymous SNV ENSG00000067191:ENST00000344140:exon10:c.C981T:p.N327N,ENSG00000067191:ENST00000394303:exon10:c.C846T:p.N282N,ENSG00000067191:ENST00000394310:exon10:c.C846T:p.N282N Score=556;Name=lod=243 NA 17q12 Score=936;Name=V$FOXO4_01 NA NA NA rs78894589 0.01 0.01 0.004 0.00459265 0.0139 NA 0.0101 NA 0.002 0.01 NA 0.01 NA 0.0106 0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197422 NA NA 0.018372 0.003631 NA NA NA 7.6237946 890 10 38645403 38645403 T C ncRNA_exonic HSD17B7P2 NA NA NA ncRNA_exonic ENSG00000099251 NA NA NA Score=403;Name=lod=58 NA 10p11.1 Score=794;Name=V$COMP1_01 Name=Pol2,HEY1,ZEB1_(SC-25388),RFX5_(N-494),Sin3Ak-20,Pol2-4H8 Name=57 NA rs2262083 0.52 0.52 0.451 0.501597 0.5159 0.5724 0.5389 0.5303 0.3487 0.51 0.55 0.53 0.49 0.5274 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380064 NA NA NA NA NA 0.536 NA 7.6233666 890 19 44418397 44418397 G A exonic ZNF45 NA synonymous SNV ZNF45:NM_003425:exon10:c.C1191T:p.F397F exonic ENSG00000124459 NA synonymous SNV ENSG00000124459:ENST00000589703:exon4:c.C1191T:p.F397F,ENSG00000124459:ENST00000269973:exon10:c.C1191T:p.F397F Score=432;Name=lod=76 NA 19q13.31 NA Name=SETDB1 NA NA rs140417622 0.01 0.01 0.009 0.00559105 0.0219 NA 0.0043 0.0023 NA 0.03 NA 0.01 NA 0.0085 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820974 NA NA 0.014186 0.002951 NA NA NA 7.6220806 890 14 24772965 24772965 C A exonic NOP9 NA synonymous SNV NOP9:NM_174913:exon7:c.C1312A:p.R438R exonic ENSG00000196943 NA synonymous SNV ENSG00000196943:ENST00000267425:exon7:c.C1312A:p.R438R,ENSG00000196943:ENST00000396802:exon7:c.C1312A:p.R438R Score=583;Name=lod=312 NA 14q12 Score=810;Name=V$STAT1_01 NA NA NA rs116960868 0.01 0.01 0.005 0.00519169 0.0189 NA 0.0101 NA NA 0.02 NA 0.01 NA 0.0114 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.970395 NA NA 0.014535 0.003177 NA NA NA 7.6218316 890 8 6590126 6590126 A G exonic AGPAT5 NA synonymous SNV AGPAT5:NM_018361:exon4:c.A450G:p.K150K exonic ENSG00000155189 NA synonymous SNV ENSG00000155189:ENST00000285518:exon4:c.A450G:p.K150K Score=535;Name=lod=199 NA 8p23.1 NA NA Name=3 NA rs17078008 0.03 0.03 0.044 0.0401358 0.0119 NA 0.0144 0.1233 0.0164 0.02 NA 0.01 0.12 0.0224 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030781 NA NA 0.011047 0.094871 NA 0.087 NA 7.6213196 890 17 66267691 66267691 A T exonic SLC16A6 NA nonsynonymous SNV SLC16A6:NM_004694:exon5:c.T610A:p.F204I,SLC16A6:NM_001174166:exon6:c.T610A:p.F204I exonic ENSG00000108932 NA nonsynonymous SNV ENSG00000108932:ENST00000580666:exon5:c.T610A:p.F204I,ENSG00000108932:ENST00000327268:exon6:c.T610A:p.F204I NA NA 17q24.2 NA NA NA NA rs7222013 0.33 0.33 0.336 0.379593 0.1928 0.247 0.3746 0.6853 0.2986 0.17 0.24 0.37 0.66 0.2857 0.66 0.24 T 0.0 B 0.0 B 0.196 N 1.000 P -2.015 N 3.77 T -1.072 T 0.000 T 0.083 -1.881 0.008 -0.528 -0.690 -2.006 6.187 -1.881272 NA 1 0.233953 0.625965 NA 0.297 NA 7.6208804 890 11 6411935 6411935 T C exonic SMPD1 NA nonsynonymous SNV SMPD1:NM_000543:exon1:c.T107C:p.V36A,SMPD1:NM_001007593:exon1:c.T107C:p.V36A exonic ENSG00000166311 NA nonsynonymous SNV ENSG00000166311:ENST00000299397:exon1:c.T107C:p.V36A,ENSG00000166311:ENST00000342245:exon1:c.T107C:p.V36A,ENSG00000166311:ENST00000356761:exon1:c.T107C:p.V36A,ENSG00000166311:ENST00000527275:exon1:c.T107C:p.V36A,ENSG00000166311:ENST00000531303:exon1:c.T107C:p.V36A,ENSG00000166311:ENST00000533123:exon1:c.T107C:p.V36A,ENSG00000166311:ENST00000534405:exon1:c.T107C:p.V36A NA NA 11p15.4 Score=876;Name=V$CP2_01 NA NA NA rs1050228 0.59 0.59 0.518 0.561302 0.5905 0.8075 0.6729 0.202 0.684 0.64 0.81 0.62 0.22 0.558 0.81 0.45 T 0.0 B 0.0 B 0.916 N 1.000 P -1.59 N 3.0 T -1.056 T 0.000 T 0.08 1.175 9.778 0.672 0.243 0.500 7.084 1.174552 NA 0.43 0.564915 0.240512 ID=COSM1561695,COSM1561696;OCCURENCE=1(large_intestine) 0.326 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079189.1;CLNDSDB=.;CLNDSDBID=. 7.6199184 890 5 79026187 79026187 A G exonic CMYA5 NA synonymous SNV CMYA5:NM_153610:exon2:c.A1599G:p.E533E exonic ENSG00000164309 NA synonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A1599G:p.E533E Score=376;Name=lod=45 NA 5q14.1 Score=910;Name=V$OCT1_03 NA NA NA rs17253860 0.01 0.01 0.004 0.00539137 0.0139 NA 0.013 0.0008 0.0031 0.01 NA 0.01 0.002 0.0143 0.019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463804 NA NA 0.019507 0.003753 NA 0.014 NA 7.6189596 890 6 111585121 111585121 C T exonic KIAA1919 NA synonymous SNV KIAA1919:NM_153369:exon3:c.C285T:p.F95F exonic ENSG00000173214 NA synonymous SNV ENSG00000173214:ENST00000368847:exon3:c.C285T:p.F95F Score=333;Name=lod=30 NA 6q21 NA Name=p300,GATA-1,c-Jun NA NA rs139062302 0.02 0.02 0.004 0.0101837 0.0169 NA 0.0418 0.0015 0.0031 0.02 NA 0.05 0.002 0.0179 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613849 NA NA 0.013605 0.003404 NA 0.014 NA 7.6182616 890 1 214837110 214837110 C G exonic CENPF NA nonsynonymous SNV CENPF:NM_016343:exon20:c.C9318G:p.N3106K exonic ENSG00000117724 NA nonsynonymous SNV ENSG00000117724:ENST00000366955:exon20:c.C9318G:p.N3106K NA NA 1q41 NA NA NA NA rs7289 0.63 0.63 0.608 0.63099 0.5606 0.8889 0.6772 0.3775 0.7474 0.58 0.92 0.63 0.38 0.608 0.92 1 T 0.0 B 0.0 B 0.073 N 1.000 P -1.265 N 4.04 T -1.012 T 0.000 T 0.017 -0.558 1.479 3.74 1.189 0.548 4.434 -0.557762 NA 1 0.547558 0.418747 NA 0.5 NA 7.6171754 890 9 34256347 34256347 C T exonic KIF24 NA synonymous SNV KIF24:NM_194313:exon11:c.G3258A:p.G1086G exonic ENSG00000186638 NA synonymous SNV ENSG00000186638:ENST00000379174:exon7:c.G2856A:p.G952G,ENSG00000186638:ENST00000345050:exon8:c.G2856A:p.G952G,ENSG00000186638:ENST00000402558:exon10:c.G3258A:p.G1086G,ENSG00000186638:ENST00000379166:exon11:c.G3258A:p.G1086G NA NA 9p13.3 NA Name=CTCF_(SC-5916),CTCF_(C-20),SMC3_(ab9263),Rad21,CTCF Name=37 NA rs10814083 0.42 0.42 0.416 0.440096 0.3082 0.7351 0.4006 0.2685 0.5317 0.32 0.69 0.38 0.29 0.4001 0.69 0.2 T . . . . 0.979 N 1.000 P . . . . -0.954 T 0.000 T . -0.268 2.713 0.37 -0.012 -0.091 6.452 -0.268302 NA NA 0.341395 0.278257 NA 0.283 NA 7.6169716 890 19 17367435 17367435 T C exonic USHBP1 NA nonsynonymous SNV USHBP1:NM_031941:exon9:c.A1315G:p.M439V exonic ENSG00000130307 NA nonsynonymous SNV ENSG00000130307:ENST00000431146:exon8:c.A1123G:p.M375V,ENSG00000130307:ENST00000252597:exon9:c.A1315G:p.M439V Score=321;Name=lod=27 NA 19p13.11 NA NA NA NA rs9676419 0.32 0.32 0.313 0.329473 0.2336 0.2758 0.3098 0.4735 0.3027 0.23 0.26 0.28 0.54 0.2649 0.54 1 T 0.0 B 0.0 B 0.041 N 0.000 P -1.935 N 2.91 T -0.973 T 0.000 T 0.033 -2.114 0.006 -0.346 -0.123 -0.030 6.393 -2.114278 NA 1 0.218488 0.444167 ID=COSM1129959;OCCURENCE=1(prostate),1(large_intestine) 0.377 NA 7.6163454 890 1 91405699 91405699 G A exonic ZNF644 NA synonymous SNV ZNF644:NM_201269:exon3:c.C1212T:p.T404T exonic ENSG00000122482 NA synonymous SNV ENSG00000122482:ENST00000337393:exon3:c.C1212T:p.T404T,ENSG00000122482:ENST00000370440:exon3:c.C1212T:p.T404T Score=714;Name=lod=1059 NA 1p22.2 Score=760;Name=V$TCF11MAFG_01 NA NA NA rs41286763 0.01 0.01 0.01 0.0123802 0.0199 0.0129 0.0101 0.0008 0.0215 0.02 0.01 0.02 0.002 0.0149 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476291 NA NA 0.016047 0.002952 NA 0.007 NA 7.6158196 890 20 31596472 31596472 A T exonic BPIFB2 NA nonsynonymous SNV BPIFB2:NM_025227:exon2:c.A92T:p.K31M exonic ENSG00000078898 NA nonsynonymous SNV ENSG00000078898:ENST00000170150:exon2:c.A92T:p.K31M NA NA 20q11.21 NA Name=TAF1 NA NA rs6088066 0.15 0.15 0.151 0.136781 0.2406 0.0089 0.1527 0.1641 0.1135 0.24 0.01 0.18 0.18 0.2542 0.24 0.26 T 0.139 B 0.027 B 0.619 N 1.000 P 0.805 L 3.44 T -0.903 T 0.000 T 0.045 3.291 17.05 -0.229 -0.154 0.371 3.778 3.290903 3.290903 0.01 0.223308 0.181798 NA 0.087 NA 7.6152254 890 12 133768553 133768553 A T exonic ZNF268 NA nonsynonymous SNV ZNF268:NM_001165887:exon4:c.A220T:p.M74L,ZNF268:NM_001165881:exon5:c.A421T:p.M141L,ZNF268:NM_001165882:exon5:c.A172T:p.M58L,ZNF268:NM_003415:exon5:c.A421T:p.M141L,ZNF268:NM_152943:exon5:c.A421T:p.M141L exonic ENSG00000090612,ENSG00000256825 NA nonsynonymous SNV ENSG00000090612:ENST00000592241:exon4:c.A220T:p.M74L,ENSG00000090612:ENST00000228289:exon5:c.A421T:p.M141L,ENSG00000090612:ENST00000500625:exon5:c.A172T:p.M58L,ENSG00000090612:ENST00000536435:exon5:c.A421T:p.M141L,ENSG00000090612:ENST00000541009:exon5:c.A421T:p.M141L,ENSG00000090612:ENST00000542986:exon5:c.A376T:p.M126L,ENSG00000090612:ENST00000416488:exon9:c.A916T:p.M306L,ENSG00000256825:ENST00000540096:exon9:c.A916T:p.M306L NA NA 12q24.33 NA NA NA NA rs61960670 0.14 0.14 0.127 0.144169 0.2396 0.1121 0.1571 0.0083 0.2536 0.24 0.11 0.17 0.01 0.213 0.27 . . 0.0 B 0.001 B . . 1.000 P . . 5.93 T -0.900 T 0.000 T 0.215 -1.194 0.076 -2.54 -0.679 -0.439 5.150 -1.193631 NA 0.23 0.265569 0.05 NA 0.051 NA 7.6151644 891 6 138413333 138413333 G C exonic PERP NA nonsynonymous SNV PERP:NM_022121:exon3:c.C428G:p.P143R exonic ENSG00000112378 NA nonsynonymous SNV ENSG00000112378:ENST00000421351:exon3:c.C428G:p.P143R NA NA 6q23.3 NA NA NA NA rs648802 0.58 0.58 0.547 0.63119 0.5775 0.7222 0.5274 0.5507 0.7751 0.57 0.67 0.54 0.52 0.5901 0.67 0.66 T 0.046 B 0.04 B 0.606 N 1.000 P 0.69 N -2.45 D -0.900 T 0.197 T 0.079 0.225 5.215 -2.56 -0.508 -0.125 2.075 0.225135 NA 0.76 0.551744 0.530867 NA 0.572 NA 7.6139894 891 6 35980121 35980121 C T exonic SLC26A8 NA nonsynonymous SNV SLC26A8:NM_001193476:exon3:c.G217A:p.V73M,SLC26A8:NM_052961:exon3:c.G217A:p.V73M,SLC26A8:NM_138718:exon3:c.G217A:p.V73M exonic ENSG00000112053 NA nonsynonymous SNV ENSG00000112053:ENST00000355574:exon3:c.G217A:p.V73M,ENSG00000112053:ENST00000394602:exon3:c.G217A:p.V73M,ENSG00000112053:ENST00000490799:exon3:c.G217A:p.V73M,ENSG00000112053:ENST00000480663:exon4:c.G475A:p.V159M NA NA 6p21.31 NA NA NA NA rs743923 0.25 0.25 0.266 0.260982 0.2366 0.1151 0.2277 0.4652 0.184 0.24 0.13 0.26 0.42 0.2386 0.42 0.37 T 0.003 B 0.001 B 0.401 N 1.000 P -0.895 N 0.9 T -0.973 T 0.009 T 0.096 0.171 4.919 -2.58 -0.450 0.027 1.985 0.170748 NA 0.53 0.246395 0.411938 NA 0.384 NA 7.6117384 891 10 429977 429977 G A exonic DIP2C NA synonymous SNV DIP2C:NM_014974:exon16:c.C1866T:p.G622G exonic ENSG00000151240 NA synonymous SNV ENSG00000151240:ENST00000280886:exon16:c.C1866T:p.G622G,ENSG00000151240:ENST00000381496:exon17:c.C1545T:p.G515G NA NA 10p15.3 NA NA NA NA rs10904083 0.37 0.37 0.388 0.38139 0.332 0.4623 0.4135 0.2776 0.4663 0.34 0.48 0.42 0.24 0.3859 0.48 . . . . . . . . 0.000 P . . . . -0.997 T 0.000 T . -1.214 0.065 -10.9 -2.431 -1.514 3.035 -1.214238 NA NA 0.337791 0.287789 ID=COSM1128057;OCCURENCE=1(prostate),1(large_intestine) 0.413 NA 7.6109756 891 19 11998756 11998756 C T exonic ZNF69 NA synonymous SNV ZNF69:NM_021915:exon1:c.C18T:p.H6H exonic ENSG00000198429 NA synonymous SNV ENSG00000198429:ENST00000340180:exon1:c.C18T:p.H6H,ENSG00000198429:ENST00000429654:exon1:c.C18T:p.H6H,ENSG00000198429:ENST00000445911:exon1:c.C18T:p.H6H NA NA 19p13.2 NA Name=Pol2,HNF4G_(SC-6558),JunD,TBP,HEY1,ZBTB7A_(SC-34508) Name=118 NA rs3810315 0.01 0.01 0.013 0.0129792 0.0229 0.006 0.0144 0.0023 0.0235 0.02 0.01 0.02 0.01 0.0149 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957838 NA NA 0.018023 0.005447 NA 0.007 NA 7.6108436 891 7 75687396 75687396 G A exonic MDH2 NA synonymous SNV MDH2:NM_005918:exon4:c.G429A:p.P143P exonic ENSG00000146701 NA synonymous SNV ENSG00000146701:ENST00000443006:exon3:c.G108A:p.P36P,ENSG00000146701:ENST00000315758:exon4:c.G429A:p.P143P,ENSG00000146701:ENST00000432020:exon4:c.G429A:p.P143P Score=521;Name=lod=174 NA 7q11.23 NA NA Name=9 NA rs11538801 0.01 0.01 0.007 0.0125799 0.0219 0.001 0.0115 0.0008 0.0317 0.02 NA 0.0028 0.0041 0.0187 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.618477 1.618477 NA 0.01593 0.003177 NA NA NA 7.6101366 891 14 20444441 20444441 C A exonic OR4K15 NA nonsynonymous SNV OR4K15:NM_001005486:exon1:c.C764A:p.A255E exonic ENSG00000169488 NA nonsynonymous SNV ENSG00000169488:ENST00000305051:exon1:c.C764A:p.A255E NA NA 14q11.2 NA NA NA NA rs10135246 0.18 0.18 0.163 0.215655 0.2227 0.123 0.1715 0.2042 0.3507 0.23 0.11 0.18 0.18 0.2356 0.27 0.75 T 0.199 B 0.093 B 0.004 N 1.000 P -0.32 N 8.9 T -1.288 T 0.000 T 0.127 -0.476 1.804 2.06 0.886 0.606 7.336 -0.476388 NA 0.18 0.265465 0.228779 NA 0.188 NA 7.6095684 891 14 65008251 65008251 C T exonic HSPA2 NA synonymous SNV HSPA2:NM_021979:exon1:c.C684T:p.D228D exonic ENSG00000126803 NA synonymous SNV ENSG00000126803:ENST00000247207:exon1:c.C684T:p.D228D,ENSG00000126803:ENST00000394709:exon2:c.C684T:p.D228D Score=765;Name=lod=1711 NA 14q23.3 Score=915;Name=V$AREB6_01 Name=CTCF Name=33 NA rs1063391 0.68 0.68 0.622 0.652556 0.6819 0.8601 0.696 0.3956 0.7249 0.7 0.85 0.7 0.44 0.6924 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391762 NA NA 0.683372 0.439174 NA 0.652 NA 7.6089946 891 17 10297658 10297658 A G exonic MYH8 NA nonsynonymous SNV MYH8:NM_002472:exon35:c.T5074C:p.W1692R exonic ENSG00000133020 NA nonsynonymous SNV ENSG00000133020:ENST00000403437:exon35:c.T5074C:p.W1692R Score=528;Name=lod=187 NA 17p13.1 NA NA NA NA rs8069834 0.5 0.5 0.476 0.485423 0.6322 0.124 0.4856 0.7595 0.3364 0.62 0.12 0.49 0.75 0.5096 0.75 1 T 0.0 B 0.0 B 0.002 N 1.000 P -3.88 N -0.82 T -0.892 T 0.000 T 0.076 -0.455 1.894 1.84 0.017 0.948 8.832 -0.45481 NA 1 0.583043 0.720835 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117692.1;CLNDSDB=.;CLNDSDBID=. 7.6084904 891 12 6167196 6167196 A G exonic VWF NA synonymous SNV VWF:NM_000552:exon14:c.T1548C:p.Y516Y exonic ENSG00000110799 NA synonymous SNV ENSG00000110799:ENST00000261405:exon14:c.T1548C:p.Y516Y NA NA 12p13.31 Score=952;Name=V$STAT_01 Name=CTCF,YY1_(C-20),CTCF_(SC-5916) Name=7 NA rs1800379 0.38 0.38 0.389 0.376997 0.3628 0.2103 0.2709 0.6422 0.2802 0.37 0.2 0.31 0.68 0.3447 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.162491 NA NA 0.350769 0.587392 ID=COSM1162475;OCCURENCE=1(pancreas),1(large_intestine) 0.5 NA 7.6083976 891 1 110170896 110170896 T C exonic AMPD2 NA synonymous SNV AMPD2:NM_203404:exon8:c.T1077C:p.H359H,AMPD2:NM_001257361:exon10:c.T1080C:p.H360H,AMPD2:NM_004037:exon10:c.T1434C:p.H478H,AMPD2:NM_139156:exon10:c.T1191C:p.H397H,AMPD2:NM_001257360:exon11:c.T1434C:p.H478H exonic ENSG00000116337 NA synonymous SNV ENSG00000116337:ENST00000393688:exon8:c.T1077C:p.H359H,ENSG00000116337:ENST00000358729:exon9:c.T1209C:p.H403H,ENSG00000116337:ENST00000256578:exon10:c.T1434C:p.H478H,ENSG00000116337:ENST00000342115:exon10:c.T1191C:p.H397H,ENSG00000116337:ENST00000528454:exon10:c.T1080C:p.H360H,ENSG00000116337:ENST00000528667:exon11:c.T1434C:p.H478H Score=461;Name=lod=100 NA 1p13.3 Score=841;Name=V$ELK1_01 NA Name=9 NA rs863978 0.78 0.78 0.783 0.807708 0.6769 0.9802 0.7695 0.7337 0.8916 0.67 0.98 0.75 0.75 0.7353 0.98 . . . . . . . . 0.000 P . . . . -1.028 T 0.058 T . 0.614 7.305 -1.77 -0.169 -0.772 10.082 0.613917 NA NA 0.647442 0.756015 NA 0.783 NA 7.6070246 891 18 61564394 61564394 A G exonic SERPINB2 NA nonsynonymous SNV SERPINB2:NM_002575:exon4:c.A358G:p.N120D,SERPINB2:NM_001143818:exon5:c.A358G:p.N120D exonic ENSG00000197632 NA nonsynonymous SNV ENSG00000197632:ENST00000299502:exon4:c.A358G:p.N120D,ENSG00000197632:ENST00000443281:exon4:c.A358G:p.N120D,ENSG00000197632:ENST00000413956:exon5:c.A358G:p.N120D,ENSG00000197632:ENST00000457692:exon5:c.A358G:p.N120D NA NA 18q21.33 NA NA NA NA rs6098 0.33 0.33 0.315 0.349042 0.2296 0.499 0.3559 0.3661 0.2894 0.22 0.46 0.33 0.35 0.2788 0.46 . . 0.0 B 0.0 B 0.741 N 1.000 P -0.965 N 2.85 T -0.975 T 0.000 T 0.025 1.22 9.952 4.13 0.865 0.618 6.718 1.220485 NA 1 0.218372 0.369042 NA 0.283 NA 7.6065614 891 1 19413261 19413261 T A exonic UBR4 NA nonsynonymous SNV UBR4:NM_020765:exon100:c.A14599T:p.M4867L exonic ENSG00000127481 NA nonsynonymous SNV ENSG00000127481:ENST00000429347:exon10:c.A1168T:p.M390L,ENSG00000127481:ENST00000543981:exon12:c.A1591T:p.M531L,ENSG00000127481:ENST00000375224:exon15:c.A1720T:p.M574L,ENSG00000127481:ENST00000375217:exon100:c.A14578T:p.M4860L,ENSG00000127481:ENST00000375226:exon100:c.A14527T:p.M4843L,ENSG00000127481:ENST00000375254:exon100:c.A14599T:p.M4867L,ENSG00000127481:ENST00000375267:exon100:c.A14599T:p.M4867L Score=656;Name=lod=620 NA 1p36.13 NA NA NA NA rs12584 0.64 0.64 0.623 0.601438 0.5785 0.7589 0.6844 0.5408 0.4857 0.57 0.78 0.66 0.58 0.583 0.78 0.41 T 0.0 B 0.0 B 0.001 N 0.000 P -0.695 N 1.64 T -1.040 T 0.000 T 0.079 2.116 13.03 0.893 -0.151 2.616 5.268 2.115935 2.115935 0.08 0.565814 0.548343 NA 0.652 NA 7.6060194 891 15 65804892 65804892 G A exonic DPP8 NA synonymous SNV DPP8:NM_197960:exon3:c.C48T:p.N16N,DPP8:NM_197961:exon3:c.C48T:p.N16N exonic ENSG00000074603 NA synonymous SNV ENSG00000074603:ENST00000558529:exon1:c.C30T:p.N10N,ENSG00000074603:ENST00000341861:exon2:c.C48T:p.N16N,ENSG00000074603:ENST00000395652:exon2:c.C48T:p.N16N,ENSG00000074603:ENST00000559233:exon2:c.C48T:p.N16N,ENSG00000074603:ENST00000321118:exon3:c.C48T:p.N16N,ENSG00000074603:ENST00000321147:exon3:c.C48T:p.N16N,ENSG00000074603:ENST00000339244:exon3:c.C48T:p.N16N,ENSG00000074603:ENST00000560436:exon3:c.C48T:p.N16N Score=616;Name=lod=427 NA 15q22.31 Score=856;Name=V$OCT1_02 NA NA NA rs118088815 0.01 0.01 0.007 0.0071885 0.0209 NA 0.013 0.0015 0.0041 0.02 NA 0.02 0.002 0.0158 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962784 NA NA 0.024424 0.004543 NA 0.007 NA 7.6055426 891 1 1479333 1479333 A G exonic SSU72 NA synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P exonic ENSG00000160075 NA synonymous SNV ENSG00000160075:ENST00000291386:exon4:c.T399C:p.P133P NA NA 1p36.33 Score=833;Name=V$MYCMAX_01 Name=ERalpha_a Name=17 NA rs7533 0.62 0.62 0.582 0.69369 0.3062 0.8671 0.5634 0.91 0.7137 0.31 0.85 0.51 0.89 0.4601 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134869 NA NA 0.295 0.816841 NA 0.587 NA 7.6053666 892 15 33023098 33023098 C G exonic GREM1 NA synonymous SNV GREM1:NM_013372:exon2:c.C207G:p.P69P exonic ENSG00000166923 NA synonymous SNV ENSG00000166923:ENST00000300177:exon2:c.C207G:p.P69P NA NA 15q13.3 NA Name=USF-1,c-Myc,Egr-1,JunD Name=80 NA rs2280738 0.07 0.07 0.057 0.067492 0.0189 0.2113 0.0115 0.0121 0.0838 0.02 0.23 0.01 0.02 0.0365 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056943 NA NA 0.007209 0.011358 NA 0.043 NA 7.6040576 892 12 30881809 30881809 T C exonic CAPRIN2 NA nonsynonymous SNV CAPRIN2:NM_001002259:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001206856:exon8:c.A1555G:p.M519V,CAPRIN2:NM_023925:exon8:c.A1555G:p.M519V,CAPRIN2:NM_032156:exon8:c.A1555G:p.M519V exonic ENSG00000110888 NA nonsynonymous SNV ENSG00000110888:ENST00000433722:exon5:c.A793G:p.M265V,ENSG00000110888:ENST00000308433:exon7:c.A556G:p.M186V,ENSG00000110888:ENST00000251071:exon8:c.A1555G:p.M519V,ENSG00000110888:ENST00000298892:exon8:c.A1555G:p.M519V,ENSG00000110888:ENST00000395805:exon8:c.A1555G:p.M519V,ENSG00000110888:ENST00000417045:exon8:c.A1555G:p.M519V,ENSG00000110888:ENST00000537108:exon9:c.A1312G:p.M438V NA NA 12p11.21 NA NA NA NA rs2304630 0.53 0.53 0.546 0.555312 0.5736 0.369 0.3732 0.8192 0.501 0.58 0.36 0.38 0.77 0.5608 0.79 1 T 0.0 B 0.0 B 0.255 N 1.000 P -0.345 N 3.08 T -0.995 T 0.000 T 0.02 -2.991 0.001 -4.49 -1.874 -0.854 10.353 -2.991367 NA 1 0.595349 0.786201 NA 0.507 NA 7.6035844 892 1 111494194 111494194 C T exonic LRIF1 NA nonsynonymous SNV LRIF1:NM_018372:exon2:c.G1312A:p.A438T exonic ENSG00000121931 NA nonsynonymous SNV ENSG00000121931:ENST00000369763:exon2:c.G1312A:p.A438T Score=569;Name=lod=274 NA 1p13.3 NA NA NA NA rs2232041 0.16 0.16 0.155 0.157748 0.2714 0.0635 0.1081 0.1566 0.1748 0.27 0.05 0.13 0.14 0.2059 0.27 0.1 T 0.024 B 0.017 B 0.679 N 0.000 P 1.39 L 1.5 T -0.992 T 0.025 T 0.023 0.875 8.548 1.19 0.393 -0.526 4.277 0.874802 NA 0.1 0.252907 0.159328 NA 0.109 NA 7.6031264 892 12 42854208 42854208 A G exonic PRICKLE1 NA synonymous SNV PRICKLE1:NM_001144881:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144882:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144883:exon8:c.T1899C:p.F633F,PRICKLE1:NM_153026:exon8:c.T1899C:p.F633F exonic ENSG00000139174 NA synonymous SNV ENSG00000139174:ENST00000345127:exon8:c.T1899C:p.F633F,ENSG00000139174:ENST00000445766:exon8:c.T1899C:p.F633F,ENSG00000139174:ENST00000455697:exon8:c.T1899C:p.F633F,ENSG00000139174:ENST00000548696:exon8:c.T1899C:p.F633F,ENSG00000139174:ENST00000552240:exon8:c.T1899C:p.F633F Score=452;Name=lod=92 NA 12q12 NA Name=JunD NA NA rs3747563 0.32 0.32 0.269 0.270567 0.3678 0.256 0.3847 0.1634 0.2495 0.37 0.3 0.43 0.2 0.3459 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284679 1.284679 NA 0.350349 0.201316 NA 0.304 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118050.2;CLNDSDB=.;CLNDSDBID=. 7.6026176 892 9 138439809 138439809 T C exonic OBP2A NA nonsynonymous SNV OBP2A:NM_014582:exon4:c.T370C:p.Y124H exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000342114:exon3:c.T236C:p.L79P,ENSG00000122136:ENST00000537747:exon3:c.T236C:p.L79P,ENSG00000122136:ENST00000340780:exon4:c.T370C:p.Y124H,ENSG00000122136:ENST00000371776:exon4:c.T370C:p.Y124H,ENSG00000122136:ENST00000471886:exon4:c.T370C:p.Y124H,ENSG00000122136:ENST00000539850:exon4:c.T370C:p.Y124H NA NA 9q34.3 NA NA NA NA rs72766544 0.17 0.17 0.15 0.154353 0.2525 0.1567 0.134 0.0582 0.1953 0.25 0.14 0.17 0.07 0.2168 0.26 0.67 T 0.0 B 0.001 B 0.768 N 1.000 P -1.04 N 3.01 T -0.928 T 0.000 T 0.043 -2.311 0.004 -0.067 -0.350 -2.078 1.140 -2.310517 NA 0.57 0.261977 0.093055 NA 0.188 NA 7.6020564 892 1 15909744 15909744 C T exonic AGMAT NA nonsynonymous SNV AGMAT:NM_024758:exon2:c.G419A:p.R140Q exonic ENSG00000116771 NA nonsynonymous SNV ENSG00000116771:ENST00000375826:exon2:c.G419A:p.R140Q NA NA 1p36.21 NA NA NA NA rs11580170 0.26 0.26 0.277 0.272364 0.2326 0.0565 0.2133 0.5492 0.2035 0.24 0.06 0.27 0.53 0.2511 0.53 0.62 T 0.016 B 0.042 B 0.071 N 0.610 P 0.575 N -1.79 D -0.950 T 0.000 T 0.067 0.792 8.173 1.23 0.280 0.542 8.486 0.792103 NA 0.39 0.247674 0.524512 NA 0.283 NA 7.6019594 892 11 94731759 94731759 G A exonic KDM4D NA nonsynonymous SNV KDM4D:NM_018039:exon3:c.G1223A:p.R408Q exonic ENSG00000186280 NA nonsynonymous SNV ENSG00000186280:ENST00000536741:exon2:c.G1223A:p.R408Q,ENSG00000186280:ENST00000335080:exon3:c.G1223A:p.R408Q NA NA 11q21 NA NA NA NA rs3740853 0.32 0.32 0.289 0.320487 0.2207 0.6468 0.3213 0.0976 0.3875 0.24 0.62 0.31 0.12 0.2875 0.62 0.58 T 0.294 B 0.033 B 0.158 U 1.000 P 0 N 1.69 T -0.949 T 0.000 T 0.057 0.76 8.021 -0.698 -0.125 -1.095 4.659 0.759683 NA 0.43 0.223243 0.120854 NA 0.174 NA 7.6018904 892 13 45975241 45975241 T G exonic SLC25A30 NA synonymous SNV SLC25A30:NM_001010875:exon7:c.A591C:p.G197G exonic ENSG00000174032 NA synonymous SNV ENSG00000174032:ENST00000539591:exon6:c.A438C:p.G146G,ENSG00000174032:ENST00000519676:exon7:c.A591C:p.G197G Score=592;Name=lod=338 NA 13q14.13 Score=787;Name=V$AHR_01 NA NA NA rs145903350 0.01 0.01 0.002 0.00798722 0.0278 NA 0.013 0.0008 0.002 0.03 NA 0.02 NA 0.019 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828444 NA NA 0.018488 0.003177 NA 0.007 NA 7.6013786 892 19 9949152 9949152 G A exonic PIN1 NA synonymous SNV PIN1:NM_006221:exon2:c.G99A:p.Q33Q exonic ENSG00000127445 NA synonymous SNV ENSG00000127445:ENST00000247970:exon2:c.G99A:p.Q33Q,ENSG00000127445:ENST00000587625:exon2:c.G99A:p.Q33Q,ENSG00000127445:ENST00000588695:exon2:c.G99A:p.Q33Q Score=561;Name=lod=253 NA 19p13.2 Score=1000;Name=V$AP2REP_01 NA NA NA rs2233682 0.07 0.07 0.056 0.0838658 0.005 0.0387 0.1095 0.1989 0.0378 0.004 0.04 0.1 0.19 0.0518 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07265 NA NA 0.008496 0.166515 NA 0.065 NA 7.6013706 892 6 26033506 26033506 G A exonic HIST1H2AB NA synonymous SNV HIST1H2AB:NM_003513:exon1:c.C291T:p.L97L exonic ENSG00000137259 NA synonymous SNV ENSG00000137259:ENST00000259791:exon1:c.C291T:p.L97L Score=635;Name=lod=508 NA 6p22.2 Score=844;Name=V$AHRARNT_01 Name=CCNT2,ELF1_(SC-631),HEY1,CHD2_(N-1250),Pol2,HA-E2F1,Pol2-4H8,E2F1,E2F6 Name=125 NA rs2230655 0.79 0.79 0.774 0.781949 0.672 0.8601 0.7219 0.9448 0.637 0.66 0.9 0.72 0.93 0.7049 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568342 NA NA 0.688953 0.903995 NA 0.746 NA 7.6008136 892 2 73677898 73677898 G C exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon8:c.G4241C:p.G1414A exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon7:c.G4115C:p.G1372A,ENSG00000116127:ENST00000264448:exon8:c.G4241C:p.G1414A,ENSG00000116127:ENST00000377715:exon8:c.G4241C:p.G1414A NA NA 2p13.1 NA NA NA NA rs6546837 0.34 0.34 0.353 0.363618 0.2266 0.0089 0.3905 0.8782 0.1554 0.23 0.01 0.35 0.87 0.2681 0.87 1 T 0.0 B 0.0 B 0.921 N 1.000 P -0.75 N 3.55 T -1.004 T 0.000 T 0.045 -1.493 0.017 -0.18 -0.286 -2.366 5.890 -1.493229 NA 1 0.237898 0.73826 NA 0.435 NA 7.6007354 892 12 26749945 26749945 G A exonic ITPR2 NA synonymous SNV ITPR2:NM_002223:exon31:c.C4125T:p.H1375H exonic ENSG00000123104 NA synonymous SNV ENSG00000123104:ENST00000381340:exon31:c.C4125T:p.H1375H Score=696;Name=lod=900 NA 12p11.23 Score=794;Name=V$OLF1_01 NA NA NA rs2230374 0.01 0.01 0.011 0.0071885 0.0229 NA 0.0187 NA NA 0.02 NA 0.02 NA 0.0173 0.026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939884 NA NA 0.025912 0.004733 NA 0.007 NA 7.6005546 892 19 16060658 16060658 A G exonic OR10H4 NA nonsynonymous SNV OR10H4:NM_001004465:exon1:c.A841G:p.T281A exonic ENSG00000176231 NA nonsynonymous SNV ENSG00000176231:ENST00000322107:exon1:c.A841G:p.T281A NA NA 19p13.12 NA NA NA NA rs11880184 0.25 0.25 0.282 0.241813 0.2644 0.0546 0.1772 0.4622 0.1595 0.25 0.07 0.23 0.48 0.2306 0.48 0.06 T 0.051 B 0.084 B 0.018 U 1.000 P 1.975 M 8.48 T -0.928 T 0.000 T 0.061 -0.13 3.362 0.988 0.700 0.803 2.855 -0.130215 NA 0.01 0.23814 0.419655 NA 0.333 NA 7.6001934 892 19 16060248 16060248 A G exonic OR10H4 NA nonsynonymous SNV OR10H4:NM_001004465:exon1:c.A431G:p.H144R exonic ENSG00000176231 NA nonsynonymous SNV ENSG00000176231:ENST00000322107:exon1:c.A431G:p.H144R NA NA 19p13.12 NA NA NA NA rs16980822 0.25 0.25 0.268 0.241813 0.2644 0.0546 0.1772 0.4622 0.1595 0.25 0.07 0.23 0.48 0.2306 0.48 0.47 T 0.0 B 0.001 B 0.417 N 1.000 P -0.48 N 1.29 T -0.908 T 0.000 T 0.022 -0.8 0.676 0.441 -0.004 -2.003 4.571 -0.799908 NA 0.4 0.238256 0.419655 NA 0.333 NA 7.6000774 892 3 72799703 72799703 C T exonic SHQ1 NA nonsynonymous SNV SHQ1:NM_018130:exon11:c.G1466A:p.S489N exonic ENSG00000144736 NA nonsynonymous SNV ENSG00000144736:ENST00000325599:exon11:c.G1466A:p.S489N,ENSG00000144736:ENST00000463369:exon11:c.G1382A:p.S461N NA NA 3p13 NA NA NA NA rs35178407 0.28 0.28 0.302 0.291933 0.2406 0.0367 0.2003 0.6936 0.1299 0.25 0.03 0.18 0.67 0.2435 0.67 1 T 0.0 B 0.0 B 0.013 N 1.000 P 0 N 1.56 T -1.015 T 0.000 T 0.004 0.082 4.444 -11.0 -4.380 -0.307 5.169 0.082137 NA 1 0.249767 0.618248 NA 0.275 NA 7.5994664 892 1 197874949 197874949 T C exonic C1orf53 NA synonymous SNV C1orf53:NM_001024594:exon2:c.T288C:p.D96D exonic ENSG00000203724 NA synonymous SNV ENSG00000203724:ENST00000367393:exon2:c.T288C:p.D96D Score=393;Name=lod=53 NA 1q31.3 NA NA Name=4 NA rs2270763 0.34 0.34 0.308 0.359625 0.3668 0.2619 0.3948 0.4123 0.3569 0.34 0.24 0.42 0.38 0.3513 0.45 . . . . . . . . 0.000 P . . . . -0.940 T 0.000 T . 0.913 8.716 -0.891 -0.399 0.140 11.348 0.913213 NA NA 0.350156 0.402377 NA 0.333 NA 7.5984106 892 2 7164578 7164578 A G exonic RNF144A NA synonymous SNV RNF144A:NM_014746:exon7:c.A588G:p.E196E exonic ENSG00000151692 NA synonymous SNV ENSG00000151692:ENST00000320892:exon7:c.A588G:p.E196E Score=586;Name=lod=321 NA 2p25.1 Score=804;Name=V$PAX2_01 NA NA NA rs376219 0.25 0.25 0.217 0.264377 0.3459 0.1696 0.3905 0.1097 0.3978 0.35 0.17 0.36 0.09 0.3438 0.38 . . . . . . . . 0.000 P . . . . -0.959 T 0.000 T . -0.542 1.539 0.485 -0.138 0.309 10.681 -0.54217 NA NA 0.379186 0.1532 NA 0.254 NA 7.5977806 892 9 115818949 115818949 A T exonic ZFP37 NA nonsynonymous SNV ZFP37:NM_003408:exon1:c.T20A:p.V7D exonic ENSG00000136866 NA nonsynonymous SNV ENSG00000136866:ENST00000374227:exon1:c.T20A:p.V7D,ENSG00000136866:ENST00000553380:exon1:c.T20A:p.V7D,ENSG00000136866:ENST00000555206:exon1:c.T20A:p.V7D NA NA 9q32 NA Name=SIX5,GRp20,NFKB,CCNT2,IRF1,TBP,SIRT6,Pol2-4H8,KAP1,HA-E2F1,NANOG_(SC-33759),YY1,ELF1_(SC-631),GABP,ETS1,TAF1,YY1_(C-20),Pol2 NA NA rs2282076 0.52 0.52 0.516 0.495208 0.5855 0.5288 0.5447 0.382 0.4857 0.59 0.55 0.57 0.33 0.5576 0.59 0.23 T 0.0 B 0.0 B . . 1.000 P 0 N 3.55 T -0.990 T 0.000 T 0.113 -0.856 0.536 -2.19 -0.892 -0.583 0.036 -0.855911 NA 0.81 0.592558 0.430322 NA 0.587 NA 7.5976754 892 15 99434816 99434816 C A exonic IGF1R NA synonymous SNV IGF1R:NM_000875:exon3:c.C903A:p.G301G exonic ENSG00000140443 NA synonymous SNV ENSG00000140443:ENST00000558355:exon2:c.C540A:p.G180G,ENSG00000140443:ENST00000268035:exon3:c.C903A:p.G301G,ENSG00000140443:ENST00000558762:exon3:c.C903A:p.G301G Score=556;Name=lod=243 NA 15q26.3 Score=870;Name=V$CHOP_01 NA NA NA rs2229764 0.01 0.01 0.004 0.0129792 0.0219 NA 0.013 0.0023 0.0317 0.02 NA 0.02 0.0041 0.0233 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.669521 1.669521 NA 0.024901 0.005917 NA 0.007 NA 7.5965656 892 13 47466622 47466622 G A exonic HTR2A NA synonymous SNV HTR2A:NM_001165947:exon2:c.C264T:p.D88D,HTR2A:NM_000621:exon3:c.C516T:p.D172D exonic ENSG00000102468 NA synonymous SNV ENSG00000102468:ENST00000378688:exon2:c.C516T:p.D172D,ENSG00000102468:ENST00000543956:exon2:c.C264T:p.D88D,ENSG00000102468:ENST00000542664:exon3:c.C516T:p.D172D Score=445;Name=lod=86 NA 13q14.2 Score=788;Name=V$PAX2_01 NA NA NA rs6305 0.02 0.02 0.015 0.0091853 0.0229 NA 0.0259 0.0023 0.002 0.03 NA 0.04 0.002 0.0177 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260052 1.260052 NA 0.029535 0.004085 NA 0.022 NA 7.5965316 892 12 109971481 109971481 C G intronic UBE3B NA NA NA exonic ENSG00000151148 NA nonsynonymous SNV ENSG00000151148:ENST00000535089:exon4:c.C296G:p.P99R,ENSG00000151148:ENST00000605142:exon4:c.C368G:p.P123R NA NA 12q24.11 NA Name=GATA-2 NA NA rs12303137 0.19 0.19 0.19 0.176518 0.2654 0.0734 0.1715 0.1838 0.1851 0.27 0.07 0.21 0.18 0.3051 0.27 0.04 D . . . . . . 1.000 P . . -0.31 T -1.078 T 0.000 T 0.199 0.61 7.288 1.6 0.451 0.260 4.782 0.610432 NA NA NA NA NA 0.225 NA 7.5961667 893 1 1179800 1179800 G A exonic FAM132A NA synonymous SNV FAM132A:NM_001014980:exon2:c.C255T:p.G85G exonic ENSG00000184163 NA synonymous SNV ENSG00000184163:ENST00000330388:exon2:c.C255T:p.G85G NA NA 1p36.33 NA Name=ZBTB7A_(SC-34508),ELF1_(SC-631),ZNF263,YY1 Name=15 NA rs115586508 0.01 0.01 0.01 0.00878594 0.0229 NA 0.0043 NA 0.0184 0.03 NA 0.01 NA 0.0203 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459421 NA NA 0.03036 0.006428 NA 0.007 NA 7.5931066 893 1 112018657 112018657 G A exonic C1orf162 NA nonsynonymous SNV C1orf162:NM_174896:exon2:c.G7A:p.G3S exonic ENSG00000143110 NA nonsynonymous SNV ENSG00000143110:ENST00000343534:exon2:c.G7A:p.G3S,ENSG00000143110:ENST00000369718:exon2:c.G7A:p.G3S NA NA 1p13.2 NA NA NA NA rs6703267 0.19 0.19 0.201 0.190096 0.2386 0.1379 0.1398 0.2042 0.2106 0.23 0.13 0.17 0.2 0.2344 0.27 1 T 0.408 B 0.045 B 0.274 N 1.000 P 0.345 N 0.88 T -1.097 T 0.012 T 0.034 2.978 15.93 -1.89 -0.329 -1.138 0.946 2.978115 2.978115 1 0.267442 0.200409 NA 0.203 NA 7.5928914 893 12 64062132 64062132 G A exonic DPY19L2 NA synonymous SNV DPY19L2:NM_173812:exon1:c.C42T:p.S14S exonic ENSG00000177990 NA synonymous SNV ENSG00000177990:ENST00000306389:exon1:c.C42T:p.S14S,ENSG00000177990:ENST00000324472:exon1:c.C42T:p.S14S,ENSG00000177990:ENST00000542209:exon2:c.C42T:p.S14S NA NA 12q14.2 NA Name=ZNF263 Name=108 NA rs11175111 0.05 0.05 0.041 0.091254 0.0119 0.1329 0.0231 0.121 0.138 0.01 0.1 0.02 0.07 0.0467 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106399 NA NA 0.015244 0.077988 NA 0.029 NA 7.5928226 893 16 1538464 1538464 C T exonic PTX4 NA nonsynonymous SNV PTX4:NM_001013658:exon1:c.G5A:p.G2E exonic ENSG00000251692 NA nonsynonymous SNV ENSG00000251692:ENST00000293922:exon1:c.G5A:p.G2E NA NA 16p13.3 NA NA NA NA rs2745103 0.29 0.29 0.276 0.257788 0.2416 0.497 0.1945 0.1316 0.2434 0.26 0.54 0.19 0.12 0.2451 0.54 0 D 0.18 B 0.068 B 0.000 N 1.000 P . . 3.19 T -0.915 T 0.000 T 0.063 0.226 5.219 0.856 0.260 0.239 4.118 0.226002 NA 0 0.254302 0.134379 NA 0.355 NA 7.5923314 893 6 26104448 26104448 A G exonic HIST1H4C NA synonymous SNV HIST1H4C:NM_003542:exon1:c.A273G:p.L91L exonic ENSG00000197061 NA synonymous SNV ENSG00000197061:ENST00000377803:exon1:c.A273G:p.L91L Score=551;Name=lod=232 NA 6p22.2 NA Name=ZNF263,E2F6,Pol2-4H8,Sin3Ak-20,Ini1,Pol2(phosphoS2),Pol2,HMGN3,POU2F2,ELK4,Pol2(b),BRF2,GATA-1,IRF1,CTCF,CTCF_(C-20),Oct-2,HEY1,CCNT2,c-Myc Name=148 NA rs198852 0.24 0.24 0.237 0.246006 0.3708 0.1379 0.3055 0.1059 0.3763 0.39 0.11 0.31 0.12 0.3325 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198528 NA NA 0.371395 0.164094 NA 0.297 NA 7.5919716 893 4 84230033 84230033 C T exonic HPSE NA synonymous SNV HPSE:NM_001199830:exon7:c.G882A:p.A294A,HPSE:NM_001098540:exon8:c.G1056A:p.A352A,HPSE:NM_006665:exon9:c.G1056A:p.A352A exonic ENSG00000173083 NA synonymous SNV ENSG00000173083:ENST00000513463:exon7:c.G882A:p.A294A,ENSG00000173083:ENST00000311412:exon8:c.G1056A:p.A352A,ENSG00000173083:ENST00000405413:exon9:c.G1056A:p.A352A,ENSG00000173083:ENST00000509906:exon9:c.G1056A:p.A352A Score=476;Name=lod=115 NA 4q21.23 NA NA Name=3 NA rs139839221 0.01 0.01 0.014 0.00898562 0.0318 NA 0.0144 0.0015 0.001 0.03 NA 0.01 NA 0.0162 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185534 NA NA 0.02686 0.003177 NA 0.007 NA 7.5918066 893 5 65108215 65108215 A G exonic NLN NA synonymous SNV NLN:NM_020726:exon12:c.A1977G:p.P659P exonic ENSG00000123213 NA synonymous SNV ENSG00000123213:ENST00000509935:exon5:c.A774G:p.P258P,ENSG00000123213:ENST00000511299:exon7:c.A1107G:p.P369P,ENSG00000123213:ENST00000502464:exon11:c.A1665G:p.P555P,ENSG00000123213:ENST00000380985:exon12:c.A1977G:p.P659P Score=603;Name=lod=375 NA 5q12.3 NA NA NA NA rs2254485 0.68 0.68 0.69 0.699481 0.675 0.5665 0.6066 0.8828 0.68 0.69 0.54 0.63 0.85 0.6968 0.87 . . . . . . . . 0.000 P . . . . -1.045 T 0.000 T . 0.703 7.749 2.96 0.141 1.334 6.385 0.70285 NA NA 0.703605 0.872447 NA 0.79 NA 7.5912616 893 12 58010163 58010163 A G exonic ARHGEF25 NA nonsynonymous SNV ARHGEF25:NM_182947:exon14:c.A1517G:p.Q506R,ARHGEF25:NM_001111270:exon15:c.A1634G:p.Q545R exonic ENSG00000240771 NA nonsynonymous SNV ENSG00000240771:ENST00000286494:exon14:c.A1517G:p.Q506R,ENSG00000240771:ENST00000333972:exon15:c.A1634G:p.Q545R Score=378;Name=lod=46 NA 12q13.3 NA NA NA NA rs1564374 0.64 0.64 0.622 0.630192 0.5527 0.7222 0.6657 0.5197 0.7393 0.58 0.79 0.61 0.58 0.6254 0.79 1 T 0.0 B 0.0 B 0.081 N 1.000 P -1.1 N 1.23 T -0.959 T 0.000 T 0.1 -2.115 0.006 3.66 0.659 0.321 7.646 -2.114913 NA 0.86 0.56407 0.534044 NA 0.587 NA 7.5911634 893 1 76199277 76199277 A C exonic ACADM NA synonymous SNV ACADM:NM_000016:exon5:c.A351C:p.T117T,ACADM:NM_001127328:exon5:c.A363C:p.T121T exonic ENSG00000117054 NA synonymous SNV ENSG00000117054:ENST00000541113:exon4:c.A243C:p.T81T,ENSG00000117054:ENST00000370841:exon5:c.A351C:p.T117T,ENSG00000117054:ENST00000420607:exon5:c.A363C:p.T121T,ENSG00000117054:ENST00000370834:exon6:c.A450C:p.T150T Score=644;Name=lod=553 NA 1p31.1 NA NA NA NA rs74090726 0.04 0.04 0.044 0.0401358 0.0179 NA 0.0245 0.1218 0.0051 0.01 NA 0.03 0.13 0.0279 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.39098 1.39098 NA 0.029767 0.103949 NA 0.014 CLINSIG=other|non-pathogenic|non-pathogenic;CLNDBN=Mcad_deficiency\x2c_modifier_of|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000003783.2|RCV000077887.1|RCV000123475.1;CLNDSDB=.|.|.;CLNDSDBID=.|.|. 7.5910996 893 3 9990800 9990800 G C exonic PRRT3 NA nonsynonymous SNV PRRT3:NM_207351:exon2:c.C1000G:p.R334G exonic ENSG00000163704 NA nonsynonymous SNV ENSG00000163704:ENST00000295984:exon2:c.C1000G:p.R334G,ENSG00000163704:ENST00000411976:exon2:c.C1000G:p.R334G,ENSG00000163704:ENST00000412055:exon2:c.C1000G:p.R334G NA NA 3p25.3 NA NA NA NA rs59465469 0.37 0.37 0.406 0.38139 0.2137 0.1558 0.3256 0.8132 0.2423 0.22 0.21 0.34 0.81 0.282 0.81 . . 0.0 B 0.0 B 0.022 N 1.000 P -1.1 N 2.6 T -1.049 T 0.000 T 0.028 -1.815 0.009 2.22 0.272 0.038 6.311 -1.814685 NA 1 0.248069 0.687078 ID=COSM149328;OCCURENCE=1(stomach) 0.565 NA 7.5895644 893 X 153418468 153418468 G C exonic OPN1LW NA synonymous SNV OPN1LW:NM_020061:exon3:c.G465C:p.V155V exonic ENSG00000102076 NA synonymous SNV ENSG00000102076:ENST00000442922:exon1:c.G54C:p.V18V,ENSG00000102076:ENST00000369951:exon3:c.G465C:p.V155V Score=574;Name=lod=286 NA Xq28 Score=814;Name=V$CEBP_C NA NA NA rs731614 0.05 0.05 0.01828 NA NA NA NA NA NA 0.06 0.07 0.03 0.03 0.0372 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002192 NA NA 0.040813 0.026506 NA 0.13 NA 7.5886536 893 4 57356588 57356588 A G exonic SRP72 NA synonymous SNV SRP72:NM_001267722:exon12:c.A1227G:p.L409L,SRP72:NM_006947:exon14:c.A1410G:p.L470L exonic ENSG00000174780 NA synonymous SNV ENSG00000174780:ENST00000510663:exon12:c.A1227G:p.L409L,ENSG00000174780:ENST00000342756:exon14:c.A1410G:p.L470L Score=571;Name=lod=279 NA 4q12 Score=893;Name=V$RORA1_01 NA NA NA rs17086879 0.07 0.07 0.071 0.0615016 0.0169 0.1865 0.0202 0.0136 0.0726 0.02 0.21 0.04 0.03 0.0415 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092087 NA NA 0.02093 0.012483 NA 0.058 NA 7.5873366 893 16 85711860 85711860 C T exonic GINS2 NA synonymous SNV GINS2:NM_016095:exon5:c.G516A:p.T172T exonic ENSG00000131153 NA synonymous SNV ENSG00000131153:ENST00000253462:exon5:c.G516A:p.T172T Score=511;Name=lod=159 NA 16q24.1 NA Name=Pol2 Name=2 NA rs1053328 0.36 0.36 0.359 0.3748 0.3429 0.494 0.3156 0.2859 0.4468 0.36 0.49 0.3 0.25 0.378 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648043 NA NA 0.360349 0.304595 NA 0.326 NA 7.5854176 893 5 64892939 64892939 T G exonic TRIM23 NA synonymous SNV TRIM23:NM_001656:exon8:c.A1248C:p.G416G,TRIM23:NM_033227:exon8:c.A1248C:p.G416G,TRIM23:NM_033228:exon8:c.A1248C:p.G416G exonic ENSG00000113595 NA synonymous SNV ENSG00000113595:ENST00000231524:exon8:c.A1248C:p.G416G,ENSG00000113595:ENST00000274327:exon8:c.A1248C:p.G416G,ENSG00000113595:ENST00000381018:exon8:c.A1248C:p.G416G Score=656;Name=lod=618 NA 5q12.3 Score=927;Name=V$NFAT_Q6 NA NA NA rs33945461 0.06 0.06 0.05 0.0788738 0.0209 0.0893 0.0418 0.1104 0.1115 0.02 0.07 0.04 0.11 0.0397 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.157553 NA NA 0.021047 0.100091 NA 0.043 NA 7.5850196 894 16 722288 722288 A G exonic RHOT2 NA synonymous SNV RHOT2:NM_138769:exon15:c.A1230G:p.G410G exonic ENSG00000140983 NA synonymous SNV ENSG00000140983:ENST00000315082:exon15:c.A1230G:p.G410G Score=469;Name=lod=107 NA 16p13.3 Score=823;Name=V$PPARA_01 NA NA NA rs138164898 0.02 0.02 0.025 0.0213658 0.0268 0.0179 0.013 0.0197 0.0276 0.03 0.02 0.01 0.01 0.0258 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072133 NA NA 0.030603 0.020464 NA 0.029 NA 7.5834636 894 2 219736472 219736472 G A exonic WNT6 NA synonymous SNV WNT6:NM_006522:exon3:c.G567A:p.A189A exonic ENSG00000115596 NA synonymous SNV ENSG00000115596:ENST00000233948:exon3:c.G567A:p.A189A NA NA 2q35 Score=843;Name=V$BRN2_01 NA Name=4 NA rs13417214 0.01 0.01 0.011 0.0103834 0.0308 NA 0.0231 0.003 0.001 0.02 NA 0.03 0.01 0.0208 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004614 NA NA 0.03186 0.005906 ID=COSM238447;OCCURENCE=1(prostate) 0.014 NA 7.5832066 894 6 137323213 137323213 G A exonic IL20RA NA nonsynonymous SNV IL20RA:NM_014432:exon7:c.C1144T:p.L382F exonic ENSG00000016402 NA nonsynonymous SNV ENSG00000016402:ENST00000367748:exon6:c.C811T:p.L271F,ENSG00000016402:ENST00000316649:exon7:c.C1144T:p.L382F,ENSG00000016402:ENST00000541547:exon7:c.C997T:p.L333F NA NA 6q23.3 NA NA NA NA rs1342642 0.21 0.21 0.209 0.199681 0.2594 0.0714 0.183 0.2383 0.2301 0.26 0.08 0.19 0.28 0.2213 0.28 0.11 T 0.93 P 0.592 P 0.003 N 1.000 P 1.78 L 1.76 T -1.033 T 0.148 T 0.073 2.741 15.12 0.246 0.013 0.732 6.723 2.740564 2.740564 0.17 0.27 0.221743 NA 0.283 NA 7.5826334 894 2 220037666 220037666 A G exonic CNPPD1 NA nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T875C:p.L292P exonic ENSG00000115649 NA nonsynonymous SNV ENSG00000115649:ENST00000360507:exon8:c.T875C:p.L292P,ENSG00000115649:ENST00000409789:exon9:c.T875C:p.L292P,ENSG00000115649:ENST00000453038:exon9:c.T875C:p.L292P NA NA 2q35 NA Name=GATA-1 NA NA rs1127102 0.42 0.42 0.404 0.401957 0.6163 0.2302 0.402 0.2421 0.5746 0.63 0.26 0.45 0.27 0.5336 0.63 0.22 T 0.0 B 0.0 B 0.843 N 1.000 P -0.345 N 2.43 T -0.962 T 0.000 T 0.316 -0.834 0.589 2.22 0.045 0.941 1.275 -0.833693 NA 0.16 0.600814 0.289832 NA 0.493 NA 7.5826194 894 19 58058536 58058536 A G exonic ZNF550 NA nonsynonymous SNV ZNF550:NM_001277090:exon4:c.T1076C:p.I359T,ZNF550:NM_001277091:exon4:c.T1076C:p.I359T,ZNF550:NM_001277092:exon4:c.T1076C:p.I359T exonic ENSG00000251369 NA nonsynonymous SNV ENSG00000251369:ENST00000506609:exon2:c.T953C:p.I318T,ENSG00000251369:ENST00000325134:exon3:c.T980C:p.I327T,ENSG00000251369:ENST00000376230:exon4:c.T1076C:p.I359T,ENSG00000251369:ENST00000447310:exon4:c.T1076C:p.I359T,ENSG00000251369:ENST00000457177:exon4:c.T1076C:p.I359T NA NA 19q13.43 NA Name=SETDB1 NA NA rs1548476 0.64 0.64 0.628 0.656949 0.5547 0.7083 0.6268 0.7035 0.6677 0.56 0.75 0.56 0.68 0.6283 0.75 1 T 0.0 B 0.001 B . . 1.000 P -0.435 N 3.24 T -0.999 T 0.000 T 0.247 1.711 11.68 -1.59 -0.603 -1.095 4.645 1.7112 1.7112 0.93 0.568488 0.676123 NA 0.638 NA 7.5818454 894 7 30655542 30655542 T C exonic GARS NA synonymous SNV GARS:NM_002047:exon9:c.T1062C:p.F354F exonic ENSG00000106105 NA synonymous SNV ENSG00000106105:ENST00000389266:exon9:c.T1062C:p.F354F Score=583;Name=lod=311 NA 7p14.3 Score=817;Name=V$CDP_02 NA NA NA rs11553502 0.03 0.03 0.026 0.0251597 0.0278 NA 0.0288 0.059 NA 0.03 NA 0.02 0.06 0.0251 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.418683 1.418683 NA 0.032508 0.070415 NA 0.043 NA 7.5812586 894 21 46057720 46057720 A C exonic KRTAP10-10 NA nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A386C:p.Q129P exonic ENSG00000221859 NA nonsynonymous SNV ENSG00000221859:ENST00000380095:exon1:c.A386C:p.Q129P Score=376;Name=lod=45 NA 21q22.3 NA NA NA NA rs4818949 0.25 0.25 0.217 0.278554 0.2425 0.0526 0.2233 0.4773 0.319 0.25 0.05 0.24 0.47 0.2588 0.47 0.51 T 0.012 B 0.01 B . . 0.000 P 1.645 L 5.24 T -1.038 T 0.000 T 0.12 0.501 6.718 -0.050 0.190 0.029 4.401 0.501193 NA 0.2 0.251744 0.447345 NA 0.13 NA 7.5802894 894 1 89273287 89273287 G A exonic PKN2 NA synonymous SNV PKN2:NM_006256:exon14:c.G2010A:p.K670K exonic ENSG00000065243 NA synonymous SNV ENSG00000065243:ENST00000544045:exon9:c.G1032A:p.K344K,ENSG00000065243:ENST00000370505:exon13:c.G1539A:p.K513K,ENSG00000065243:ENST00000370513:exon13:c.G1866A:p.K622K,ENSG00000065243:ENST00000370521:exon14:c.G2010A:p.K670K Score=609;Name=lod=399 NA 1p22.2 Score=915;Name=V$CEBP_01 NA NA NA rs6671949 0.06 0.06 0.053 0.0650958 0.0348 NA 0.0245 0.1974 0.0133 0.04 NA 0.03 0.19 0.0336 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.353055 2.353055 NA 0.018086 0.171962 NA 0.138 NA 7.5801806 894 3 192516430 192516430 C T exonic MB21D2 NA synonymous SNV MB21D2:NM_178496:exon2:c.G1221A:p.P407P exonic ENSG00000180611 NA synonymous SNV ENSG00000180611:ENST00000392452:exon2:c.G1221A:p.P407P NA NA 3q29 Score=800;Name=V$HEN1_01 NA NA Score=100;Name=1691991.0_0_+_100 rs3732388 0.06 0.06 0.037 0.067492 0.0189 0.1647 0.0937 0.0038 0.0849 0.01 0.14 0.08 0.01 0.0462 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352482 NA NA 0.021395 0.013618 NA 0.022 NA 7.5801716 894 16 8729124 8729124 G A exonic METTL22 NA nonsynonymous SNV METTL22:NM_024109:exon5:c.G655A:p.A219T exonic ENSG00000067365 NA nonsynonymous SNV ENSG00000067365:ENST00000572956:exon1:c.G43A:p.A15T,ENSG00000067365:ENST00000163678:exon4:c.G614A:p.R205H,ENSG00000067365:ENST00000381920:exon5:c.G655A:p.A219T,ENSG00000067365:ENST00000561758:exon6:c.G487A:p.A163T NA NA 16p13.2 NA NA NA NA rs2302607 0.21 0.21 0.184 0.1873 0.2694 0.3552 0.1643 0.0159 0.1779 0.24 0.33 0.18 0.02 0.2291 0.33 0.95 T 0.012 B 0.019 B 0.052 N 0.984 P -0.165 N 3.33 T -0.957 T 0.000 T 0.101 2.331 13.75 -0.687 -0.119 1.572 8.930 2.330758 2.330758 0 0.255362 0.058881 NA 0.138 NA 7.5794714 894 16 84870 84870 C G intergenic DDX11L10,POLR3K dist=20780;dist=12109 NA NA ncRNA_exonic ENSG00000226942,ENSG00000260803 NA NA NA Score=393;Name=lod=53 NA 16p13.3 Score=783;Name=V$COMP1_01 Name=EBF1_(C-8),EBF Name=10 NA rs2541688 0.27 0.27 0.26 0.252995 0.4215 0.2212 0.2767 0.0946 0.3098 0.43 0.18 0.3 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550727 NA NA NA NA NA 0.275 NA 7.5785 894 1 26786627 26786627 G A exonic DHDDS NA nonsynonymous SNV DHDDS:NM_001243564:exon7:c.G655A:p.V219M,DHDDS:NM_001243565:exon7:c.G640A:p.V214M,DHDDS:NM_024887:exon8:c.G757A:p.V253M,DHDDS:NM_205861:exon8:c.G757A:p.V253M exonic ENSG00000117682 NA nonsynonymous SNV ENSG00000117682:ENST00000430232:exon6:c.G640A:p.V214M,ENSG00000117682:ENST00000525682:exon7:c.G655A:p.V219M,ENSG00000117682:ENST00000526219:exon7:c.G640A:p.V214M,ENSG00000117682:ENST00000236342:exon8:c.G757A:p.V253M,ENSG00000117682:ENST00000360009:exon8:c.G757A:p.V253M NA NA 1p36.11 NA NA Name=2 NA rs3816539 0.42 0.42 0.442 0.455272 0.2346 0.7093 0.3069 0.4811 0.4908 0.24 0.74 0.28 0.43 0.3133 0.74 0.06 T 0.002 B 0.006 B 0.143 N 1.000 P 1.1 L 0.94 T -0.970 T 0.000 T 0.244 1.521 11.04 -1.42 -0.176 0.741 12.092 1.520802 1.520802 0.11 0.207093 0.444394 ID=COSM146454;OCCURENCE=1(stomach),1(meninges) 0.428 NA 7.5783404 894 18 3188976 3188976 A G exonic MYOM1 NA nonsynonymous SNV MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P exonic ENSG00000101605 NA nonsynonymous SNV ENSG00000101605:ENST00000261606:exon4:c.T541C:p.S181P,ENSG00000101605:ENST00000356443:exon4:c.T541C:p.S181P,ENSG00000101605:ENST00000400569:exon4:c.T541C:p.S181P NA NA 18p11.31 NA NA NA NA rs1962519 0.46 0.46 0.434 0.443291 0.4026 0.8363 0.402 0.1641 0.4867 0.41 0.83 0.38 0.17 0.4374 0.83 0.32 T 0.978 D 0.719 P . . 1.000 P 0 N 0.74 T -0.993 T 0.000 T 0.169 1.905 12.33 1.27 0.370 -0.165 7.638 1.904802 1.904802 NA 0.415309 0.186843 NA 0.362 NA 7.5780244 894 4 3117168 3117168 C G exonic HTT NA synonymous SNV HTT:NM_002111:exon7:c.C885G:p.L295L exonic ENSG00000197386 NA synonymous SNV ENSG00000197386:ENST00000355072:exon7:c.C885G:p.L295L Score=422;Name=lod=69 NA 4p16.3 Score=849;Name=V$GR_Q6 NA NA NA rs1936032 0.04 0.04 0.037 0.0371406 0.0278 NA 0.0346 0.1006 0.001 0.03 NA 0.04 0.11 0.0295 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856303 NA NA 0.031763 0.092675 NA 0.036 NA 7.5776036 894 6 132211534 132211534 A G exonic ENPP1 NA synonymous SNV ENPP1:NM_006208:exon25:c.A2661G:p.A887A exonic ENSG00000197594 NA synonymous SNV ENSG00000197594:ENST00000360971:exon25:c.A2661G:p.A887A Score=598;Name=lod=358 NA 6q23.2 NA NA Name=10 NA rs1804025 0.08 0.08 0.095 0.0790735 0.0318 NA 0.0331 0.2368 0.0286 0.03 NA 0.03 0.27 0.0387 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.598729 1.598729 NA 0.018837 0.206083 NA 0.029 NA 7.5773296 894 21 43258138 43258138 C T exonic PRDM15 NA synonymous SNV PRDM15:NM_001040424:exon8:c.G1017A:p.P339P,PRDM15:NM_022115:exon15:c.G2004A:p.P668P exonic ENSG00000141956 NA synonymous SNV ENSG00000141956:ENST00000447207:exon7:c.G906A:p.P302P,ENSG00000141956:ENST00000398548:exon8:c.G1017A:p.P339P,ENSG00000141956:ENST00000422911:exon8:c.G1017A:p.P339P,ENSG00000141956:ENST00000441787:exon8:c.G906A:p.P302P,ENSG00000141956:ENST00000447016:exon8:c.G906A:p.P302P,ENSG00000141956:ENST00000449395:exon8:c.G1017A:p.P339P,ENSG00000141956:ENST00000538201:exon8:c.G906A:p.P302P,ENSG00000141956:ENST00000269844:exon15:c.G2004A:p.P668P,ENSG00000141956:ENST00000433067:exon15:c.G2004A:p.P668P NA NA 21q22.3 NA Name=EBF Name=8 NA rs76107411 0.03 0.03 0.032 0.0325479 0.0258 0.001 0.0115 0.0915 0.0072 0.03 0.0017 0.02 0.08 0.0311 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948733 NA NA 0.033372 0.066954 NA 0.029 NA 7.5763946 895 19 38959680 38959680 C T exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon26:c.C3456T:p.I1152I,RYR1:NM_001042723:exon26:c.C3456T:p.I1152I exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon26:c.C3456T:p.I1152I,ENSG00000196218:ENST00000359596:exon26:c.C3456T:p.I1152I,ENSG00000196218:ENST00000360985:exon26:c.C3456T:p.I1152I Score=485;Name=lod=125 NA 19q13.2 Score=913;Name=V$CDPCR3HD_01 NA NA NA rs11083462 0.39 0.39 0.372 0.449281 0.3419 0.4683 0.3357 0.4826 0.5757 0.34 0.46 0.33 0.44 0.3956 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.385871 1.385871 NA 0.354419 0.438493 ID=COSM148605;OCCURENCE=1(stomach) 0.442 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079140.1|RCV000119611.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.5747476 895 8 135649848 135649848 G A exonic ZFAT NA nonsynonymous SNV ZFAT:NM_001167583:exon3:c.C268T:p.P90S,ZFAT:NM_001174157:exon3:c.C304T:p.P102S,ZFAT:NM_001174158:exon3:c.C268T:p.P90S,ZFAT:NM_020863:exon3:c.C304T:p.P102S,ZFAT:NM_001029939:exon4:c.C268T:p.P90S exonic ENSG00000066827 NA nonsynonymous SNV ENSG00000066827:ENST00000522257:exon2:c.C118T:p.P40S,ENSG00000066827:ENST00000377838:exon3:c.C304T:p.P102S,ENSG00000066827:ENST00000429442:exon3:c.C268T:p.P90S,ENSG00000066827:ENST00000518191:exon3:c.C268T:p.P90S,ENSG00000066827:ENST00000520214:exon3:c.C268T:p.P90S,ENSG00000066827:ENST00000520356:exon3:c.C268T:p.P90S,ENSG00000066827:ENST00000523243:exon3:c.C304T:p.P102S,ENSG00000066827:ENST00000523399:exon3:c.C304T:p.P102S,ENSG00000066827:ENST00000520727:exon4:c.C268T:p.P90S NA NA 8q24.22 NA NA NA NA rs12541381 0.24 0.24 0.213 0.216254 0.2634 0.3075 0.2219 0.0628 0.2771 0.26 0.33 0.26 0.07 0.2497 0.33 0.09 T 0.02 B 0.018 B 0.098 N 1.000 P 0.55 N 3.12 T -0.970 T 0.000 T 0.164 -1.84 0.009 1.06 -0.088 2.410 5.636 -1.839731 NA 0.79 0.247135 0.100827 NA 0.13 NA 7.5730984 895 6 123687288 123687288 A C exonic TRDN NA nonsynonymous SNV TRDN:NM_001251987:exon20:c.T1316G:p.I439S,TRDN:NM_006073:exon20:c.T1313G:p.I438S exonic ENSG00000186439 NA nonsynonymous SNV ENSG00000186439:ENST00000334268:exon20:c.T1313G:p.I438S,ENSG00000186439:ENST00000398178:exon20:c.T1313G:p.I438S Score=385;Name=lod=49 NA 6q22.31 NA NA NA NA rs2873479 0.95 0.95 0.947 0.939297 0.9215 0.9196 0.951 0.9644 0.9356 0.91 0.99 0.94 0.98 0.924 0.99 0.7 T 0.0 B 0.0 B 0.044 N 0.000 P 0 N 2.29 T -0.929 T 0.007 T 0.027 -0.328 2.446 4.68 0.914 2.341 7.740 -0.327524 NA 0.34 0.915624 0.94779 NA 0.957 NA 7.5722094 895 16 27840271 27840271 C T exonic GSG1L NA synonymous SNV GSG1L:NM_144675:exon4:c.G204A:p.A68A,GSG1L:NM_001109763:exon5:c.G669A:p.A223A exonic ENSG00000169181 NA synonymous SNV ENSG00000169181:ENST00000569166:exon3:c.G204A:p.A68A,ENSG00000169181:ENST00000380897:exon4:c.G204A:p.A68A,ENSG00000169181:ENST00000395724:exon4:c.G516A:p.A172A,ENSG00000169181:ENST00000380898:exon5:c.G204A:p.A68A,ENSG00000169181:ENST00000447459:exon5:c.G669A:p.A223A Score=704;Name=lod=965 NA 16p12.1 Score=698;Name=V$BRACH_01 NA NA NA rs117918036 0.02 0.02 0.016 0.0105831 0.0348 0.001 0.0173 NA 0.0051 0.04 NA 0.01 0.0041 0.0219 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374435 1.374435 NA 0.037791 0.0066 NA NA NA 7.5721756 895 1 235918870 235918870 T G exonic LYST NA synonymous SNV LYST:NM_000081:exon25:c.A7137C:p.L2379L exonic ENSG00000143669 NA synonymous SNV ENSG00000143669:ENST00000389793:exon25:c.A7137C:p.L2379L,ENSG00000143669:ENST00000389794:exon25:c.A7137C:p.L2379L Score=686;Name=lod=817 NA 1q42.3 Score=910;Name=V$NFY_C NA NA NA rs61738992 0.02 0.02 0.011 0.0209665 0.0298 NA 0.085 0.0015 0.0143 0.03 NA 0.07 NA 0.032 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023514 NA NA 0.034302 0.007036 NA 0.007 NA 7.5705646 895 12 49444545 49444545 G A exonic MLL2 NA synonymous SNV MLL2:NM_003482:exon11:c.C2826T:p.I942I exonic ENSG00000167548 NA synonymous SNV ENSG00000167548:ENST00000301067:exon11:c.C2826T:p.I942I Score=437;Name=lod=80 NA 12q13.12 Score=797;Name=V$HEN1_02 NA NA NA rs2241726 0.37 0.37 0.364 0.403554 0.3479 0.4306 0.2911 0.4297 0.4775 0.35 0.39 0.3 0.41 0.3796 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539446 NA NA 0.37033 0.417617 ID=COSM147497;OCCURENCE=1(stomach) 0.377 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080169.1;CLNDSDB=.;CLNDSDBID=. 7.5688366 895 5 131008194 131008194 T C exonic FNIP1 NA nonsynonymous SNV FNIP1:NM_001008738:exon13:c.A1859G:p.Q620R,FNIP1:NM_133372:exon14:c.A1943G:p.Q648R exonic ENSG00000217128 NA nonsynonymous SNV ENSG00000217128:ENST00000307954:exon13:c.A1808G:p.Q603R,ENSG00000217128:ENST00000307968:exon13:c.A1859G:p.Q620R,ENSG00000217128:ENST00000510461:exon14:c.A1943G:p.Q648R NA NA 5q31.1 NA Name=FOXA1_(C-20),ERalpha_a,GATA3_(SC-268),p300 Name=90 NA rs26008 0.88 0.88 0.895 0.867013 0.9364 0.7946 0.8112 0.8994 0.8661 0.93 0.81 0.88 0.91 0.8901 0.94 0.25 T 0.0 B 0.0 B . . 0.997 P 0 N 2.62 T -1.005 T 0.000 T 0.022 -2.147 0.005 -1.92 -1.133 -0.115 14.746 -2.146734 NA 0.77 0.938023 0.901271 NA 0.768 NA 7.5688104 895 19 3754020 3754020 G C exonic APBA3 NA synonymous SNV APBA3:NM_004886:exon5:c.C846G:p.S282S exonic ENSG00000011132 NA synonymous SNV ENSG00000011132:ENST00000316757:exon5:c.C846G:p.S282S Score=425;Name=lod=71 NA 19p13.3 Score=894;Name=V$NFE2_01 NA NA NA rs61731066 0.02 0.02 0.027 0.0171725 0.0308 NA 0.036 0.0091 0.0184 0.03 NA 0.02 0.01 0.034 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117868 NA NA 0.033256 0.009305 NA 0.036 NA 7.5686106 895 20 62194238 62194238 C T exonic HELZ2 NA synonymous SNV HELZ2:NM_033405:exon3:c.G4230A:p.P1410P,HELZ2:NM_001037335:exon9:c.G5937A:p.P1979P exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000427522:exon3:c.G4230A:p.P1410P,ENSG00000130589:ENST00000467148:exon8:c.G5937A:p.P1979P NA NA 20q13.33 NA Name=EBF1_(C-8),EBF,PAX5-N19,PAX5-C20,TCF12 Name=5 NA rs34996572 0.01 0.01 0.007 0.0141773 0.0408 0.001 0.0303 0.0008 0.0072 0.03 NA 0.03 NA 0.0292 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500185 NA NA 0.028949 0.005356 NA 0.029 NA 7.5677176 895 4 89319296 89319296 T C exonic HERC6 NA nonsynonymous SNV HERC6:NM_001165136:exon8:c.T1027C:p.F343L,HERC6:NM_017912:exon8:c.T1027C:p.F343L exonic ENSG00000138642 NA nonsynonymous SNV ENSG00000138642:ENST00000264346:exon8:c.T1027C:p.F343L,ENSG00000138642:ENST00000380265:exon8:c.T1027C:p.F343L NA NA 4q22.1 NA NA NA NA rs17014118 0.5 0.5 0.517 0.555112 0.173 0.6944 0.4438 0.826 0.5174 0.16 0.72 0.41 0.81 0.4465 0.81 0.93 T 0.0 B 0.0 B 0.141 N 1.000 P -1.7 N -1.02 T -1.044 T 0.000 T 0.037 -0.714 0.927 2.65 0.560 0.319 5.404 -0.714008 NA 1 0.146755 0.715584 NA 0.413 NA 7.5670784 895 11 59480951 59480951 T C exonic OR10V1 NA nonsynonymous SNV OR10V1:NM_001005324:exon1:c.A368G:p.Q123R exonic ENSG00000172289 NA nonsynonymous SNV ENSG00000172289:ENST00000307552:exon1:c.A368G:p.Q123R Score=439;Name=lod=81 NA 11q12.1 NA NA NA NA rs499033 0.96 0.96 0.966 0.973842 0.9165 1 0.9582 0.9977 0.9847 0.92 1 0.96 0.99 0.9376 1 1 T 0.0 B 0.0 B 0.006 N 0.000 P -2.995 N 3.52 T -1.012 T 0.000 T 0.055 -0.489 1.754 3.43 0.588 3.049 7.354 -0.488522 NA 1 0.912689 0.982508 NA 0.877 NA 7.5665444 895 15 62259637 62259637 C T exonic VPS13C NA nonsynonymous SNV VPS13C:NM_017684:exon27:c.G2792A:p.R931K,VPS13C:NM_018080:exon27:c.G2792A:p.R931K,VPS13C:NM_001018088:exon29:c.G2921A:p.R974K,VPS13C:NM_020821:exon29:c.G2921A:p.R974K exonic ENSG00000129003 NA nonsynonymous SNV ENSG00000129003:ENST00000249837:exon27:c.G2792A:p.R931K,ENSG00000129003:ENST00000395898:exon27:c.G2792A:p.R931K,ENSG00000129003:ENST00000261517:exon29:c.G2921A:p.R974K,ENSG00000129003:ENST00000395896:exon29:c.G2921A:p.R974K Score=371;Name=lod=43 NA 15q22.2 NA NA NA NA rs3784634 0.72 0.72 0.765 0.755391 0.5636 0.8542 0.6052 0.9228 0.7311 0.55 0.85 0.59 0.91 0.6288 0.91 1 T 0.0 B 0.0 B 0.019 N 1.000 P -1.5 N 2.33 T -0.985 T 0.000 T 0.046 -0.448 1.921 1.62 0.084 1.921 9.755 -0.448323 NA 1 0.574755 0.849159 NA 0.746 NA 7.5661784 895 19 53015384 53015384 A G exonic ZNF578 NA nonsynonymous SNV ZNF578:NM_001099694:exon6:c.A1750G:p.I584V exonic ENSG00000258405 NA nonsynonymous SNV ENSG00000258405:ENST00000421239:exon6:c.A1750G:p.I584V NA NA 19q13.41 NA NA NA NA rs4802965 0.32 0.32 0.319 0.339058 0.2425 0.5198 0.3991 0.2564 0.3211 0.23 0.5 0.33 0.23 0.2905 0.5 . . 0.0 B 0.0 B . . 1.000 P 0.28 N . . -0.902 T 0.000 T 0.008 -2.427 0.003 -2.97 -0.878 0.000 1.687 -2.427475 NA NA 0.234357 0.241928 NA 0.232 NA 7.5659764 895 21 36080290 36080290 C T exonic CLIC6 NA synonymous SNV CLIC6:NM_053277:exon3:c.C1533T:p.F511F exonic ENSG00000159212 NA synonymous SNV ENSG00000159212:ENST00000349499:exon3:c.C1533T:p.F511F,ENSG00000159212:ENST00000360731:exon4:c.C1587T:p.F529F Score=471;Name=lod=109 NA 21q22.12 Score=927;Name=V$TCF11_01 NA Name=10 NA rs6517254 0.36 0.36 0.372 0.370008 0.3708 0.1944 0.281 0.6483 0.2372 0.37 0.16 0.29 0.62 0.3423 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230434 NA NA 0.38814 0.605538 NA 0.478 NA 7.5654266 896 3 196054439 196054439 T G exonic TM4SF19 NA nonsynonymous SNV TM4SF19:NM_001204897:exon2:c.A23C:p.Q8P,TM4SF19:NM_001204898:exon2:c.A23C:p.Q8P,TM4SF19:NM_138461:exon2:c.A23C:p.Q8P exonic ENSG00000145107 NA nonsynonymous SNV ENSG00000145107:ENST00000273695:exon2:c.A23C:p.Q8P,ENSG00000145107:ENST00000442633:exon2:c.A23C:p.Q8P,ENSG00000145107:ENST00000446879:exon2:c.A23C:p.Q8P,ENSG00000145107:ENST00000454715:exon2:c.A23C:p.Q8P NA NA 3q29 NA NA Name=19 NA rs6785339 0.64 0.64 0.639 0.630791 0.5726 0.871 0.6009 0.4402 0.7219 0.59 0.88 0.61 0.48 0.6194 0.88 0.15 T 0.0 B 0.0 B 0.969 N 1.000 P 0 N 1.88 T -1.019 T 0.000 T 0.066 1.282 10.19 3.1 0.407 0.670 3.407 1.28216 1.28216 0.2 0.576512 0.479346 ID=COSM1162699;OCCURENCE=1(pancreas) 0.58 NA 7.5648214 896 8 55541450 55541450 G A exonic RP1 NA nonsynonymous SNV RP1:NM_006269:exon4:c.G5008A:p.A1670T exonic ENSG00000104237 NA nonsynonymous SNV ENSG00000104237:ENST00000220676:exon4:c.G5008A:p.A1670T NA NA 8q12.1 NA NA NA NA rs446227 0.28 0.28 0.269 0.248203 0.2614 0.4415 0.2824 0.0772 0.2423 0.25 0.44 0.26 0.13 0.2532 0.44 0.48 T 0.011 B 0.003 B 0.604 N 1.000 P 0.14 N 2.15 T -0.906 T 0.000 T 0.029 -0.083 3.593 -0.331 -0.379 0.010 1.855 -0.083196 NA 0.92 0.255698 0.107581 NA 0.167 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081371.1|RCV000132660.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.5630354 896 7 143097100 143097100 A G exonic EPHA1 NA nonsynonymous SNV EPHA1:NM_005232:exon4:c.T479C:p.V160A exonic ENSG00000146904 NA nonsynonymous SNV ENSG00000146904:ENST00000275815:exon4:c.T479C:p.V160A NA NA 7q34 Score=887;Name=V$HAND1E47_01 NA NA NA rs4725617 0.93 0.93 0.913 0.94349 0.9195 0.9921 0.9726 0.8722 0.9939 0.91 0.99 0.97 0.86 0.9284 0.99 0.23 T 0.0 B 0.0 B 0.001 N 1.000 P -0.975 N 3.96 T -0.982 T 0.000 T 0.12 0.2 5.079 3.88 0.577 0.994 7.094 0.200225 NA 0.29 0.922674 0.865411 NA 0.899 NA 7.5627594 896 22 41195082 41195082 G A exonic SLC25A17 NA synonymous SNV SLC25A17:NM_006358:exon2:c.C60T:p.S20S exonic ENSG00000100372 NA synonymous SNV ENSG00000100372:ENST00000263255:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000412879:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000420970:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000426396:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000434193:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000435456:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000443810:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000449676:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000458600:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000542412:exon2:c.C60T:p.S20S,ENSG00000100372:ENST00000434185:exon3:c.C9T:p.S3S NA NA 22q13.2 Score=816;Name=V$PAX3_01 NA Name=3 NA rs117487309 0.06 0.06 0.016 0.0559105 0.0199 0.004 0.3602 0.0038 0.001 0.02 0.01 0.3 0.01 0.0645 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748625 NA NA 0.020116 0.009759 NA 0.029 NA 7.5621506 896 8 52233408 52233408 C T exonic PXDNL NA nonsynonymous SNV PXDNL:NM_144651:exon22:c.G4196A:p.R1399K exonic ENSG00000147485 NA nonsynonymous SNV ENSG00000147485:ENST00000356297:exon22:c.G4196A:p.R1399K Score=259;Name=lod=15 NA 8q11.22 NA NA NA NA rs7827446 0.31 0.31 0.318 0.321286 0.2396 0.1429 0.2291 0.6346 0.2311 0.24 0.15 0.26 0.63 0.27 0.63 1 T 0.0 B 0.001 B . . 0.003 P -0.67 N -0.08 T -0.943 T 0.000 T 0.15 -0.595 1.339 0.646 -0.466 -0.062 4.173 -0.59468 NA 1 0.262014 0.540021 ID=COSM1457422;OCCURENCE=1(large_intestine) 0.326 NA 7.5617194 896 2 220037756 220037756 A G exonic CNPPD1 NA nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T785C:p.I262T exonic ENSG00000115649 NA nonsynonymous SNV ENSG00000115649:ENST00000360507:exon8:c.T785C:p.I262T,ENSG00000115649:ENST00000409789:exon9:c.T785C:p.I262T,ENSG00000115649:ENST00000453038:exon9:c.T785C:p.I262T NA NA 2q35 NA Name=GATA-1 NA NA rs1043160 0.43 0.43 0.407 0.410343 0.6223 0.2302 0.4063 0.2655 0.5767 0.64 0.26 0.45 0.3 0.5406 0.64 0.47 T 0.0 B 0.0 B 0.063 N 1.000 P -0.345 N 2.47 T -0.977 T 0.000 T 0.202 -1.737 0.011 2.24 0.345 0.652 11.991 -1.736839 NA 0.37 0.609328 0.31094 NA 0.5 NA 7.5611054 896 2 170403030 170403030 T C exonic FASTKD1 NA nonsynonymous SNV FASTKD1:NM_024622:exon8:c.A1399G:p.M467V exonic ENSG00000138399 NA nonsynonymous SNV ENSG00000138399:ENST00000453153:exon8:c.A1399G:p.M467V,ENSG00000138399:ENST00000453929:exon8:c.A1399G:p.M467V NA NA 2q31.1 NA NA NA NA rs2253680 0.57 0.57 0.527 0.542931 0.6163 0.5089 0.6744 0.4894 0.4816 0.63 0.48 0.64 0.52 0.5731 0.64 0.85 T 0.0 B 0.002 B 0.803 N 1.000 P 0 N 2.3 T -0.945 T 0.000 T 0.018 -2.501 0.003 -9.13 -1.957 -0.132 3.380 -2.500765 NA 1 0.584651 0.502724 NA 0.522 NA 7.5592824 896 11 50003191 50003191 C A exonic OR4C12 NA nonsynonymous SNV OR4C12:NM_001005270:exon1:c.G847T:p.V283L exonic ENSG00000221954 NA nonsynonymous SNV ENSG00000221954:ENST00000335238:exon1:c.G847T:p.V283L Score=369;Name=lod=42 NA 11p11.12 NA NA NA NA rs4598671 0.51 0.51 0.478 0.492212 0.5924 0.5565 0.634 0.2912 0.4939 0.59 0.55 0.65 0.21 0.5805 0.65 1 T 0.0 B 0.0 B 0.006 N 1.000 P -0.535 N 1.39 T -0.925 T 0.000 T 0.067 -1.678 0.012 2.98 0.361 -0.344 3.490 -1.678493 NA 1 0.601606 0.348478 NA 0.5 NA 7.5588274 896 11 116729196 116729196 T C exonic SIK3 NA synonymous SNV SIK3:NM_025164:exon20:c.A2667G:p.L889L exonic ENSG00000160584 NA synonymous SNV ENSG00000160584:ENST00000375288:exon19:c.A672G:p.L224L,ENSG00000160584:ENST00000292055:exon20:c.A2667G:p.L889L,ENSG00000160584:ENST00000375300:exon20:c.A2841G:p.L947L,ENSG00000160584:ENST00000446921:exon20:c.A2661G:p.L887L,ENSG00000160584:ENST00000542607:exon20:c.A2487G:p.L829L,ENSG00000160584:ENST00000434315:exon21:c.A2184G:p.L728L Score=560;Name=lod=251 NA 11q23.3 NA NA NA NA rs541586 0.16 0.16 0.163 0.18131 0.0219 0.0794 0.0879 0.534 0.0399 0.02 0.07 0.09 0.51 0.0672 0.51 . . . . . . . . 0.000 P . . . . -0.899 T 0.000 T . 0.985 9.021 -1.17 0.068 0.310 7.523 0.984779 NA NA 0.021648 0.463426 NA 0.08 NA 7.5559186 896 18 72913920 72913920 C T exonic ZADH2 NA synonymous SNV ZADH2:NM_175907:exon2:c.G585A:p.K195K exonic ENSG00000180011 NA synonymous SNV ENSG00000180011:ENST00000322342:exon2:c.G585A:p.K195K,ENSG00000180011:ENST00000537114:exon2:c.G216A:p.K72K,ENSG00000180011:ENST00000581620:exon2:c.G216A:p.K72K,ENSG00000180011:ENST00000582437:exon2:c.G216A:p.K72K Score=479;Name=lod=118 NA 18q22.3 NA NA Name=18 NA rs61910717 0.02 0.02 0.014 0.0253594 0.0358 NA 0.0202 0.003 0.0746 0.04 NA 0.03 0.01 0.0383 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62995 NA NA 0.03686 0.008625 NA 0.014 NA 7.5557066 897 19 58928786 58928786 A G exonic ZNF584 NA nonsynonymous SNV ZNF584:NM_173548:exon4:c.A901G:p.T301A exonic ENSG00000171574 NA nonsynonymous SNV ENSG00000171574:ENST00000306910:exon4:c.A901G:p.T301A,ENSG00000171574:ENST00000593920:exon4:c.A766G:p.T256A NA NA 19q13.43 NA NA NA NA rs7257872 0.29 0.29 0.303 0.290935 0.2465 0.2708 0.1787 0.4592 0.2096 0.26 0.26 0.21 0.45 0.2603 0.45 0.16 T 0.001 B 0.005 B . . 1.000 P 1.04 L 3.21 T -0.933 T 0.000 T 0.031 1.211 9.916 0.242 -0.127 -4.685 1.808 1.210741 NA 0.27 0.271977 0.450522 NA 0.355 NA 7.5545564 897 12 88440676 88440676 G C exonic C12orf29 NA nonsynonymous SNV C12orf29:NM_001009894:exon6:c.G712C:p.V238L exonic ENSG00000133641 NA nonsynonymous SNV ENSG00000133641:ENST00000356891:exon6:c.G712C:p.V238L NA NA 12q21.32 NA NA NA NA rs9262 0.51 0.51 0.453 0.510583 0.6083 0.7361 0.562 0.1528 0.6247 0.59 0.71 0.55 0.12 0.5827 0.71 0.54 T 0.0 B 0.001 B 0.140 N 1.000 P -0.69 N 1.64 T -1.000 T 0.000 T 0.033 0.901 8.664 -4.2 -0.739 -1.166 9.202 0.901337 NA 0.76 0.588837 0.235588 NA 0.399 NA 7.5534964 897 4 37962186 37962186 G C exonic PTTG2 NA nonsynonymous SNV PTTG2:NM_006607:exon1:c.G131C:p.R44P exonic ENSG00000250254 NA nonsynonymous SNV ENSG00000250254:ENST00000504686:exon1:c.G131C:p.R44P NA NA 4p14 NA NA NA NA rs6811863 0.73 0.73 0.709 0.729832 0.5746 0.9583 0.7017 0.6967 0.7188 0.58 0.97 0.69 0.7 0.6413 0.97 1 T 0.0 B 0.0 B . . 1.000 P -2.545 N 1.17 T -0.934 T 0.000 T 0.046 -0.617 1.255 -4.04 -1.494 -0.042 1.388 -0.617482 NA NA 0.564535 0.703998 NA 0.645 NA 7.5528984 897 12 4735968 4735968 A C exonic AKAP3 NA synonymous SNV AKAP3:NM_006422:exon4:c.T2100G:p.S700S exonic ENSG00000111254 NA synonymous SNV ENSG00000111254:ENST00000228850:exon4:c.T2100G:p.S700S,ENSG00000111254:ENST00000545990:exon5:c.T2100G:p.S700S Score=358;Name=lod=38 NA 12p13.32 NA NA Name=8 NA rs2041292 NA NA NA 0.158347 0.1143 0.1647 0.1225 0.1248 0.2679 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.104813 NA NA NA NA NA NA NA 7.5523666 897 11 125479363 125479363 G A exonic STT3A NA synonymous SNV STT3A:NM_152713:exon10:c.G996A:p.S332S exonic ENSG00000134910 NA synonymous SNV ENSG00000134910:ENST00000531491:exon9:c.G720A:p.S240S,ENSG00000134910:ENST00000392708:exon10:c.G996A:p.S332S,ENSG00000134910:ENST00000529196:exon11:c.G996A:p.S332S Score=608;Name=lod=393 NA 11q24.2 NA NA NA NA rs2241502 0.41 0.41 0.424 0.419329 0.3787 0.4335 0.2752 0.5227 0.409 0.37 0.38 0.31 0.57 0.3694 0.57 . . . . . . . . 0.000 P . . . . -0.911 T 0.000 T . 3.962 20.3 -4.43 -0.923 -0.694 0.941 3.961505 3.961505 NA 0.367178 0.50159 NA 0.399 NA 7.5513886 897 1 32279629 32279629 G A exonic SPOCD1 NA nonsynonymous SNV SPOCD1:NM_144569:exon2:c.C1306T:p.R436W exonic ENSG00000134668 NA nonsynonymous SNV ENSG00000134668:ENST00000533231:exon1:c.C1306T:p.R436W,ENSG00000134668:ENST00000360482:exon2:c.C1306T:p.R436W,ENSG00000134668:ENST00000373648:exon2:c.C1306T:p.R436W NA NA 1p35.2 NA NA NA NA rs6669563 0.4 0.4 0.352 0.346246 0.4374 0.4226 0.4957 0.1876 0.2822 0.45 0.45 0.44 0.22 0.4068 0.45 0 D 0.825 P 0.237 B . . 1.000 P 0 N 1.84 T -0.929 T 0.000 T 0.123 1.255 10.09 0.152 0.044 0.049 3.809 1.254901 1.254901 0 0.437791 0.224694 ID=COSM146457;OCCURENCE=1(stomach),1(meninges) 0.304 NA 7.5513424 897 8 144941181 144941181 G C exonic EPPK1 NA nonsynonymous SNV EPPK1:NM_031308:exon1:c.C6241G:p.L2081V exonic ENSG00000227184 NA nonsynonymous SNV ENSG00000227184:ENST00000525985:exon2:c.C6241G:p.L2081V NA NA 8q24.3 NA NA NA NA rs7839934 0.26 0.26 0.249 0.285942 0.2575 0.2669 0.2997 0.2254 0.407 0.26 0.26 0.29 0.24 0.2693 0.29 0.53 T 0.0 B 0.0 B . . 1.000 P . . -0.37 T -1.037 T 0.000 T 0.029 -0.107 3.474 -1.77 -0.861 -2.297 5.516 -0.107219 NA NA 0.255451 0.222841 NA 0.159 NA 7.5510824 897 13 111176519 111176519 G T exonic RAB20 NA synonymous SNV RAB20:NM_017817:exon2:c.C198A:p.G66G exonic ENSG00000139832 NA synonymous SNV ENSG00000139832:ENST00000267328:exon2:c.C198A:p.G66G Score=581;Name=lod=307 NA 13q34 Score=789;Name=V$PAX5_01 NA NA Score=100;Name=679317_0_+_100 rs375814 0.38 0.38 0.362 0.380192 0.3827 0.2808 0.4539 0.4675 0.3098 0.37 0.29 0.44 0.46 0.3703 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.799649 NA NA 0.363541 0.455969 ID=COSM1477060,COSM432120;OCCURENCE=1(breast) 0.493 NA 7.5501256 897 11 33083263 33083263 G A exonic TCP11L1 NA synonymous SNV TCP11L1:NM_001145541:exon7:c.G963A:p.P321P,TCP11L1:NM_018393:exon7:c.G963A:p.P321P exonic ENSG00000176148 NA synonymous SNV ENSG00000176148:ENST00000324357:exon2:c.G300A:p.P100P,ENSG00000176148:ENST00000334274:exon7:c.G963A:p.P321P,ENSG00000176148:ENST00000432887:exon7:c.G963A:p.P321P,ENSG00000176148:ENST00000527661:exon7:c.G963A:p.P321P,ENSG00000176148:ENST00000531632:exon7:c.G963A:p.P321P NA NA 11p13 Score=756;Name=V$STAT3_01 Name=FOXA1_(SC-101058),BAF155,Pol2,NRSF,YY1_(C-20),AP-2gamma,EBF,JunD,Ini1,Pol2-4H8,c-Jun NA NA rs61889262 0.02 0.02 0.017 0.014976 0.0457 NA 0.0274 0.0015 0.0082 0.04 NA 0.02 0.002 0.031 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.274365 NA NA 0.039902 0.007947 NA 0.109 NA 7.5500646 897 14 20784431 20784431 G A exonic CCNB1IP1 NA synonymous SNV CCNB1IP1:NM_182849:exon4:c.C252T:p.I84I,CCNB1IP1:NM_021178:exon5:c.C252T:p.I84I,CCNB1IP1:NM_182852:exon6:c.C252T:p.I84I exonic ENSG00000100814 NA synonymous SNV ENSG00000100814:ENST00000353689:exon4:c.C252T:p.I84I,ENSG00000100814:ENST00000358932:exon5:c.C252T:p.I84I,ENSG00000100814:ENST00000398160:exon5:c.C252T:p.I84I,ENSG00000100814:ENST00000398163:exon5:c.C252T:p.I84I,ENSG00000100814:ENST00000398169:exon5:c.C252T:p.I84I,ENSG00000100814:ENST00000437553:exon5:c.C252T:p.I84I,ENSG00000100814:ENST00000556854:exon5:c.C252T:p.I84I,ENSG00000100814:ENST00000557665:exon5:c.C252T:p.I84I Score=541;Name=lod=211 NA 14q11.2 NA Name=Pol2 NA NA rs17242578 0.09 0.09 0.087 0.118211 0.0249 0.1677 0.0922 0.1505 0.138 0.02 0.13 0.07 0.16 0.0652 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.472314 1.472314 NA 0.026512 0.123922 NA 0.058 NA 7.5500546 897 3 131102053 131102053 A G exonic NUDT16 NA synonymous SNV NUDT16:NM_001171905:exon3:c.A318G:p.V106V,NUDT16:NM_152395:exon3:c.A456G:p.V152V exonic ENSG00000198585 NA synonymous SNV ENSG00000198585:ENST00000359850:exon3:c.A357G:p.V119V,ENSG00000198585:ENST00000521288:exon3:c.A456G:p.V152V,ENSG00000198585:ENST00000537561:exon3:c.A318G:p.V106V Score=558;Name=lod=248 NA 3q22.1 Score=759;Name=V$PAX4_04 NA NA NA rs11549806 0.08 0.08 0.068 0.071885 0.0318 0.1667 0.1297 0.0325 0.0276 0.03 0.18 0.1 0.03 0.0533 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.285825 1.285825 NA 0.031744 0.027916 NA 0.029 NA 7.5498226 897 11 2167618 2167618 A G ncRNA_exonic IGF2-AS NA NA NA ncRNA_exonic ENSG00000099869 NA NA NA NA NA 11p15.5 NA NA NA NA rs1003484 0.64 0.64 0.627 0.598043 0.6978 0.504 0.7839 0.5809 0.4836 0.73 0.46 0.78 0.59 0.6848 0.78 0 D 0.0 B 0.0 B . . 1.000 P . . . . -0.954 T 0.000 T . -0.843 0.568 -2.56 -3.153 -1.749 4.268 -0.842558 NA 1 0.734847 0.585894 NA 0.63 NA 7.5492196 897 12 71029680 71029680 A G exonic PTPRB NA synonymous SNV PTPRB:NM_001109754:exon2:c.T222C:p.S74S exonic ENSG00000127329 NA synonymous SNV ENSG00000127329:ENST00000334414:exon2:c.T222C:p.S74S,ENSG00000127329:ENST00000550358:exon2:c.T222C:p.S74S,ENSG00000127329:ENST00000551525:exon2:c.T219C:p.S73S NA NA 12q15 NA Name=Pol2 Name=17 NA rs74101511 0.03 0.03 0.024 0.0257588 0.0318 NA 0.0202 0.0439 0.0256 0.04 NA 0.02 0.06 0.0375 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49377 NA NA 0.048383 0.047666 NA 0.022 NA 7.5489836 897 19 41903220 41903220 G A exonic EXOSC5 NA nonsynonymous SNV EXOSC5:NM_020158:exon1:c.C14T:p.T5M exonic ENSG00000077348 NA nonsynonymous SNV ENSG00000077348:ENST00000221233:exon1:c.C14T:p.T5M,ENSG00000077348:ENST00000593771:exon1:c.C14T:p.T5M,ENSG00000077348:ENST00000596905:exon1:c.C14T:p.T5M NA NA 19q13.2 NA Name=E2F1,Pol2-4H8,HDAC2_(SC-6296),HA-E2F1,Sin3Ak-20,YY1,TBP,USF-1,HEY1,NFKB,CCNT2,c-Myc,E2F6,USF1_(SC-8983),YY1_(C-20),Pol2(phosphoS2),PU.1,ATF3,Mxi1_(bHLH),NRSF,Pol2,GABP,USF2,HMGN3,E2F4,ETS1,E2F6_(H-50),TAF1,CEBPB,ELF1_(SC-631),FOXA1_(SC-101058),Max NA NA rs10853751 0.61 0.61 0.619 0.614417 0.5875 0.4315 0.4798 0.8555 0.6002 0.58 0.45 0.56 0.86 0.5954 0.86 0.41 T 0.0 B 0.0 B 0.514 N 1.000 P 0 N 1.49 T -0.997 T 0.000 T 0.026 -0.783 0.722 2.61 0.204 -0.095 3.245 -0.783098 NA NA 0.601628 0.810032 NA 0.688 NA 7.5488054 897 12 113386779 113386779 C G exonic OAS3 NA nonsynonymous SNV OAS3:NM_006187:exon6:c.C1143G:p.S381R exonic ENSG00000111331 NA nonsynonymous SNV ENSG00000111331:ENST00000228928:exon6:c.C1143G:p.S381R NA NA 12q24.13 NA NA NA NA rs2285933 0.28 0.28 0.286 0.280551 0.2565 0.1577 0.379 0.4092 0.1881 0.27 0.18 0.32 0.39 0.2671 0.39 0.08 T 0.139 B 0.007 B . . 1.000 P 0.345 N 3.27 T -0.910 T 0.000 T 0.317 -0.362 2.291 0.031 -0.002 -0.993 3.388 -0.362396 NA 0.01 0.261339 0.365792 ID=COSM1600011;OCCURENCE=1(central_nervous_system) 0.297 NA 7.5483944 897 6 160198395 160198395 G A exonic ACAT2 NA synonymous SNV ACAT2:NM_005891:exon7:c.G819A:p.G273G exonic ENSG00000120437 NA synonymous SNV ENSG00000120437:ENST00000367048:exon7:c.G819A:p.G273G,ENSG00000120437:ENST00000541436:exon7:c.G906A:p.G302G Score=317;Name=lod=26 NA 6q25.3 NA Name=Pol2,Pol2-4H8 Name=5 NA rs3465 0.24 0.24 0.234 0.235224 0.3807 0.1042 0.3458 0.1362 0.2761 0.39 0.09 0.33 0.13 0.3404 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.1795 NA NA 0.397791 0.166818 NA 0.225 NA 7.5477756 897 1 20490518 20490518 T C exonic PLA2G2C NA nonsynonymous SNV PLA2G2C:NM_001105572:exon3:c.A419G:p.Q140R exonic ENSG00000187980 NA nonsynonymous SNV ENSG00000187980:ENST00000247992:exon3:c.A419G:p.Q140R,ENSG00000187980:ENST00000429261:exon4:c.A416G:p.Q139R NA NA 1p36.12 NA NA NA NA rs6426616 0.66 0.66 0.68 0.659944 0.5835 0.7272 0.4942 0.7466 0.6697 0.59 0.75 0.54 0.74 0.6079 0.75 0.48 T 0.0 B 0.001 B 0.051 N 1.000 P -1.445 N 1.73 T -0.948 T 0.000 T 0.03 -1.938 0.007 3.36 1.073 0.104 5.563 -1.938262 NA NA 0.594199 0.724164 NA 0.652 NA 7.5477344 897 8 142222445 142222445 T C exonic SLC45A4 NA nonsynonymous SNV SLC45A4:NM_001080431:exon7:c.A1999G:p.N667D exonic ENSG00000022567 NA nonsynonymous SNV ENSG00000022567:ENST00000024061:exon7:c.A1999G:p.N667D,ENSG00000022567:ENST00000433583:exon7:c.A1978G:p.N660D,ENSG00000022567:ENST00000517878:exon7:c.A2152G:p.N718D,ENSG00000022567:ENST00000519067:exon7:c.A1999G:p.N667D NA NA 8q24.3 NA NA NA NA rs3739238 0.7 0.7 0.696 0.710663 0.5875 0.8145 0.5807 0.8374 0.6513 0.56 0.81 0.64 0.83 0.6295 0.83 0.89 T 0.0 B 0.0 B 0.501 N 1.000 P -1.935 N 2.58 T -1.002 T 0.000 T 0.009 -0.567 1.445 4.39 0.615 1.197 11.748 -0.566589 NA 0.81 0.569186 0.816614 NA 0.696 NA 7.5471474 898 17 48616658 48616658 G A exonic EPN3 NA synonymous SNV EPN3:NM_017957:exon5:c.G873A:p.E291E exonic ENSG00000049283 NA synonymous SNV ENSG00000049283:ENST00000574464:exon4:c.G873A:p.E291E,ENSG00000049283:ENST00000268933:exon5:c.G873A:p.E291E,ENSG00000049283:ENST00000537145:exon5:c.G957A:p.E319E,ENSG00000049283:ENST00000541226:exon5:c.G624A:p.E208E Score=426;Name=lod=72 NA 17q21.33 Score=781;Name=V$ISRE_01 NA NA NA rs72835716 0.02 0.02 0.01 0.0169728 0.0457 NA 0.0317 0.0061 0.0092 0.04 NA 0.03 0.01 0.0322 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968285 NA NA 0.044186 0.008171 NA 0.014 NA 7.5445806 898 14 35782253 35782253 A G exonic PSMA6 NA synonymous SNV PSMA6:NM_002791:exon5:c.A576G:p.E192E exonic ENSG00000100902 NA synonymous SNV ENSG00000100902:ENST00000261479:exon5:c.A576G:p.E192E,ENSG00000100902:ENST00000540871:exon5:c.A519G:p.E173E,ENSG00000100902:ENST00000553809:exon5:c.A594G:p.E198E,ENSG00000100902:ENST00000555764:exon5:c.A339G:p.E113E,ENSG00000100902:ENST00000556506:exon5:c.A576G:p.E192E Score=643;Name=lod=546 NA 14q13.2 Score=806;Name=V$CEBP_C NA NA NA rs4665 0.02 0.02 0.01 0.0229633 0.0408 NA 0.0288 0.0045 0.0491 0.04 NA 0.02 0.002 0.0382 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783582 NA NA 0.043256 0.004993 ID=COSM1128266;OCCURENCE=1(prostate) NA NA 7.5444106 898 5 162902516 162902516 T C exonic HMMR NA nonsynonymous SNV HMMR:NM_001142557:exon8:c.T845C:p.V282A,HMMR:NM_012485:exon10:c.T1058C:p.V353A,HMMR:NM_001142556:exon11:c.T1106C:p.V369A,HMMR:NM_012484:exon11:c.T1103C:p.V368A exonic ENSG00000072571 NA nonsynonymous SNV ENSG00000072571:ENST00000432118:exon8:c.T845C:p.V282A,ENSG00000072571:ENST00000353866:exon10:c.T1058C:p.V353A,ENSG00000072571:ENST00000358715:exon11:c.T1103C:p.V368A,ENSG00000072571:ENST00000393915:exon11:c.T1106C:p.V369A,ENSG00000072571:ENST00000416990:exon11:c.T761C:p.V254A NA NA 5q34 NA NA NA NA rs299290 0.32 0.32 0.323 0.3127 0.2604 0.4841 0.2608 0.2935 0.2526 0.27 0.47 0.28 0.26 0.2839 0.47 0.75 T 0.047 B 0.034 B 0.775 N 1.000 P 0 N 3.25 T -0.937 T 0.000 T 0.013 -0.601 1.315 -3.29 -0.460 0.122 4.269 -0.601048 NA 0.43 0.244767 0.300272 ID=COSM150009;OCCURENCE=1(stomach) 0.297 NA 7.5442664 898 12 105546172 105546172 G A exonic KIAA1033 NA nonsynonymous SNV KIAA1033:NM_015275:exon26:c.G2701A:p.V901I exonic ENSG00000136051 NA nonsynonymous SNV ENSG00000136051:ENST00000332180:exon26:c.G2701A:p.V901I Score=672;Name=lod=719 NA 12q23.3 NA NA NA NA rs1663564 0.97 0.97 0.971 0.978634 0.9235 1 0.9726 1 0.9888 0.92 1 0.96 1 0.9464 1 0.53 T 0.0 B 0.0 B 0.000 N 1.000 P 0.835 L 0.86 T -0.979 T 0.000 T 0.037 -0.214 2.964 4.05 0.315 2.794 5.606 -0.214011 NA 1 0.919682 0.981532 NA 0.971 NA 7.5437514 898 6 139094937 139094937 C T exonic CCDC28A NA synonymous SNV CCDC28A:NM_015439:exon1:c.C126T:p.S42S exonic ENSG00000024862 NA synonymous SNV ENSG00000024862:ENST00000332797:exon1:c.C126T:p.S42S NA NA 6q24.1 NA Name=JunD,TAF1,GABP,ELK4,FOXA1_(C-20),YY1,Pol2(phosphoS2),PU.1,Pol2,Pol2-4H8,eGFP-JunD,c-Jun,Sin3Ak-20,HA-E2F1,HEY1,ELF1_(SC-631),FOXA1_(SC-101058),CEBPB,IRF1,TBP Name=148 NA rs11154999 0.03 0.03 0.024 0.0229633 0.0507 0.001 0.0591 0.0136 0.0041 0.06 0.0017 0.03 0.01 0.0318 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609239 NA NA 0.040465 0.014526 NA 0.014 NA 7.5437016 898 17 33749546 33749546 A G exonic SLFN12 NA nonsynonymous SNV SLFN12:NM_018042:exon2:c.T502C:p.C168R exonic ENSG00000172123 NA nonsynonymous SNV ENSG00000172123:ENST00000304905:exon2:c.T502C:p.C168R,ENSG00000172123:ENST00000452764:exon2:c.T502C:p.C168R,ENSG00000172123:ENST00000394562:exon4:c.T502C:p.C168R NA NA 17q12 NA NA NA NA rs2586514 0.58 0.58 0.541 0.589856 0.5905 0.4504 0.6354 0.6278 0.6493 0.62 0.44 0.62 0.66 0.6029 0.66 0.37 T 0.0 B 0.0 B . . 1.000 P 1.795 L 3.92 T -0.976 T 0.000 T 0.042 -0.135 3.337 -6.47 -2.103 -0.790 1.599 -0.13542 NA 0.24 0.596669 0.630178 NA 0.551 NA 7.5432644 898 8 145011204 145011204 A G exonic PLEC NA synonymous SNV PLEC:NM_201378:exon5:c.T336C:p.A112A,PLEC:NM_201379:exon5:c.T312C:p.A104A,PLEC:NM_201380:exon5:c.T789C:p.A263A,PLEC:NM_201381:exon5:c.T282C:p.A94A,PLEC:NM_201382:exon5:c.T378C:p.A126A,PLEC:NM_201383:exon5:c.T390C:p.A130A,PLEC:NM_201384:exon5:c.T378C:p.A126A,PLEC:NM_000445:exon6:c.T459C:p.A153A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon5:c.T789C:p.A263A,ENSG00000178209:ENST00000345136:exon5:c.T378C:p.A126A,ENSG00000178209:ENST00000354589:exon5:c.T378C:p.A126A,ENSG00000178209:ENST00000354958:exon5:c.T312C:p.A104A,ENSG00000178209:ENST00000356346:exon5:c.T336C:p.A112A,ENSG00000178209:ENST00000357649:exon5:c.T390C:p.A130A,ENSG00000178209:ENST00000398774:exon5:c.T282C:p.A94A,ENSG00000178209:ENST00000526416:exon5:c.T309C:p.A103A,ENSG00000178209:ENST00000527096:exon5:c.T459C:p.A153A,ENSG00000178209:ENST00000527816:exon5:c.T96C:p.A32A,ENSG00000178209:ENST00000528131:exon5:c.T429C:p.A143A,ENSG00000178209:ENST00000436759:exon6:c.T459C:p.A153A,ENSG00000178209:ENST00000528025:exon7:c.T510C:p.A170A NA NA 8q24.3 Score=822;Name=V$TAXCREB_01 Name=HA-E2F1 NA NA rs6993938 0.24 0.24 0.195 0.232428 0.4066 0.1458 0.2882 0.0613 0.3344 0.4 0.16 0.29 0.06 0.3303 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877561 NA NA 0.386777 0.104861 ID=COSM150564,COSM150565,COSM1489113;OCCURENCE=1(breast),1(stomach) 0.29 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117970.2;CLNDSDB=.;CLNDSDBID=. 7.5429896 898 2 88387403 88387403 C A exonic SMYD1 NA synonymous SNV SMYD1:NM_198274:exon3:c.C337A:p.R113R exonic ENSG00000115593 NA synonymous SNV ENSG00000115593:ENST00000419482:exon3:c.C337A:p.R113R,ENSG00000115593:ENST00000444564:exon3:c.C337A:p.R113R Score=536;Name=lod=202 NA 2p11.2 Score=884;Name=V$MYOD_01 Name=ZNF263 NA NA rs1542088 0.55 0.55 0.536 0.510383 0.506 0.9097 0.6023 0.0908 0.6053 0.53 0.93 0.6 0.12 0.6191 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474318 1.474318 NA NA NA ID=COSM443340;OCCURENCE=1(breast) 0.413 NA 7.5415666 898 15 31115853 31115853 G T ncRNA_exonic HERC2P10 NA NA NA ncRNA_exonic ENSG00000259845 NA NA NA Score=521;Name=lod=174 NA 15q13.2 NA Name=Pol2-4H8,YY1,YY1_(C-20),Pol2,TAF1 Name=21 NA rs798123 0.15 0.15 0.14 0.165335 0.1252 0.0278 0.111 0.3865 0.0879 0.12 0.03 0.14 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048689 NA NA NA NA NA 0.101 NA 7.5414666 898 20 43254298 43254298 C T exonic ADA NA synonymous SNV ADA:NM_000022:exon5:c.G390A:p.V130V exonic ENSG00000196839 NA synonymous SNV ENSG00000196839:ENST00000372874:exon5:c.G390A:p.V130V,ENSG00000196839:ENST00000536532:exon5:c.G390A:p.V130V,ENSG00000196839:ENST00000537820:exon5:c.G390A:p.V130V Score=401;Name=lod=57 NA 20q13.12 NA NA NA NA rs61737144 0.03 0.03 0.029 0.0305511 0.0378 NA 0.0231 0.0643 0.0143 0.04 NA 0.02 0.06 0.0533 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222061 NA NA 0.034599 0.057358 ID=COSM1411974;OCCURENCE=1(large_intestine) 0.036 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Severe_combined_immunodeficiency_disease|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000029301.1|RCV000123531.1;CLNDSDB=MedGen:SNOMED_CT|.;CLNDSDBID=C0085110:31323000|. 7.5409676 898 1 75055419 75055419 T C exonic C1orf173 NA nonsynonymous SNV C1orf173:NM_001002912:exon12:c.A2072G:p.H691R exonic ENSG00000178965 NA nonsynonymous SNV ENSG00000178965:ENST00000420661:exon7:c.A1481G:p.H494R,ENSG00000178965:ENST00000326665:exon12:c.A2072G:p.H691R NA NA 1p31.1 NA NA NA NA rs2305549 0.13 0.13 0.105 0.117612 0.0964 0.2252 0.1455 0.0461 0.1053 0.11 0.21 0.15 0.05 0.1095 0.21 0.52 T 0.664 P 0.244 B . . 1.000 P 1.24 L 2.73 T -0.970 T 0.009 T 0.13 1.085 9.43 -1.84 -0.662 -0.564 3.323 1.08526 NA 0.06 0.086628 0.043577 NA 0.109 NA 7.5408054 898 12 85438499 85438499 G A exonic LRRIQ1 NA nonsynonymous SNV LRRIQ1:NM_001079910:exon4:c.G248A:p.C83Y exonic ENSG00000133640 NA nonsynonymous SNV ENSG00000133640:ENST00000393212:exon4:c.G248A:p.C83Y,ENSG00000133640:ENST00000393217:exon4:c.G248A:p.C83Y NA NA 12q21.31 NA NA NA NA rs3765044 0.21 0.21 0.185 0.206669 0.2604 0.2222 0.3112 0.0446 0.2802 0.26 0.22 0.3 0.05 0.2606 0.3 1 T 0.0 B 0.0 B 0.525 N 1.000 P 0.805 L 0.95 T -1.012 T 0.000 T 0.247 -3.384 0.001 -2.93 -0.584 -0.698 9.209 -3.383939 NA 0.2 0.271644 0.076325 NA 0.268 NA 7.5406894 898 1 248112836 248112836 A G exonic OR2L8 NA nonsynonymous SNV OR2L8:NM_001001963:exon1:c.A677G:p.H226R exonic ENSG00000196936 NA nonsynonymous SNV ENSG00000196936:ENST00000357191:exon1:c.A677G:p.H226R NA NA 1q44 NA NA NA NA rs4925792 0.78 0.78 0.686 0.761981 0.9503 0.8849 0.9265 0.2965 0.954 0.95 0.85 0.94 0.3 0.8965 0.95 1 T 0.0 B 0.004 B 0.761 N 1.000 P -1.21 N 9.09 T -0.905 T 0.000 T 0.019 -3.572 0.001 -3.61 -1.489 -2.750 9.211 -3.572215 NA 0.98 0.94686 0.412619 NA 0.645 NA 7.5396734 898 2 43452183 43452183 A G exonic ZFP36L2 NA synonymous SNV ZFP36L2:NM_006887:exon2:c.T760C:p.L254L exonic ENSG00000152518 NA synonymous SNV ENSG00000152518:ENST00000282388:exon2:c.T760C:p.L254L Score=645;Name=lod=560 NA 2p21 NA Name=Pol2,E2F6_(H-50) Name=138 NA rs7933 0.44 0.44 0.389 0.500799 0.3718 0.2421 0.3804 0.8222 0.5511 0.36 0.25 0.4 0.82 0.3877 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378489 1.378489 NA 0.368309 0.693887 ID=COSM442911;OCCURENCE=2(breast) 0.326 NA 7.5388576 898 9 133511393 133511393 C T exonic FUBP3 NA synonymous SNV FUBP3:NM_003934:exon18:c.C1590T:p.A530A exonic ENSG00000107164 NA synonymous SNV ENSG00000107164:ENST00000319725:exon18:c.C1590T:p.A530A Score=414;Name=lod=64 NA 9q34.12 Score=867;Name=V$SREBP1_02 NA NA NA rs76482042 0.03 0.03 0.021 0.0197684 0.0398 0.0258 0.0245 0.003 0.0123 0.04 0.03 0.03 0.01 0.0379 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624911 NA NA 0.050225 0.009447 NA 0.007 NA 7.5387416 898 10 134218269 134218269 C T exonic PWWP2B NA nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.C265T:p.R89C,PWWP2B:NM_138499:exon2:c.C265T:p.R89C exonic ENSG00000171813 NA nonsynonymous SNV ENSG00000171813:ENST00000305233:exon2:c.C265T:p.R89C,ENSG00000171813:ENST00000368609:exon2:c.C265T:p.R89C NA NA 10q26.3 NA NA NA NA rs11146363 0.54 0.54 0.553 0.51897 0.5944 0.625 0.4712 0.41 0.5133 0.58 0.62 0.5 0.41 0.5751 0.63 0.09 T 0.0 B 0.0 B 0.000 N 1.000 P -0.205 N 1.49 T -0.977 T 0.000 T 0.019 1.623 11.38 -7.28 -1.361 0.710 0.959 1.62279 1.62279 0.07 0.625863 0.481508 NA 0.587 NA 7.5379704 898 5 145483844 145483844 A T exonic PLAC8L1 NA nonsynonymous SNV PLAC8L1:NM_001029869:exon1:c.T31A:p.C11S exonic ENSG00000173261 NA nonsynonymous SNV ENSG00000173261:ENST00000311450:exon1:c.T31A:p.C11S,ENSG00000173261:ENST00000512998:exon1:c.T31A:p.C11S NA NA 5q32 NA NA NA NA rs12187913 0.2 0.2 0.162 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2641 0.3 0.42 T 0.04 B 0.016 B 0.761 N 1.000 P 0.345 N 1.03 T -0.960 T 0.000 T 0.035 -0.646 1.154 3.48 0.909 0.477 6.073 -0.645856 NA 0.28 0.278953 0.060145 ID=COSM149960;OCCURENCE=1(stomach) 0.268 NA 7.5377804 898 12 85466723 85466723 G A exonic LRRIQ1 NA nonsynonymous SNV LRRIQ1:NM_001079910:exon11:c.G2734A:p.A912T exonic ENSG00000133640 NA nonsynonymous SNV ENSG00000133640:ENST00000393217:exon11:c.G2734A:p.A912T NA NA 12q21.31 NA NA Name=6 NA rs17012533 0.21 0.21 0.179 0.206869 0.2604 0.2222 0.3127 0.0446 0.2802 0.26 0.22 0.31 0.05 0.2607 0.31 0.53 T 0.0 B 0.0 B 0.049 N 1.000 P -0.345 N 0.71 T -1.012 T 0.000 T 0.023 -1.071 0.172 1.19 -0.038 0.035 2.068 -1.070835 NA 0.18 0.275465 0.078983 ID=COSM147572;OCCURENCE=1(stomach) 0.275 NA 7.5367684 898 11 5373114 5373114 G A exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.G377A:p.S126N exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.G377A:p.S126N NA NA 11p15.4 NA NA NA NA rs5006888 0.58 0.58 0.55 0.60643 0.6054 0.5446 0.5692 0.587 0.7239 0.59 0.55 0.6 0.59 0.6025 0.63 1 T 0.0 B 0.001 B 0.001 N 0.842 P -1.83 N 6.75 T -1.049 T 0.000 T 0.041 -2.607 0 2.67 0.070 2.394 4.973 -2.607379 NA 1 0.589946 0.581554 NA 0.594 NA 7.5354874 898 1 209968684 209968684 C A exonic IRF6 NA synonymous SNV IRF6:NM_001206696:exon3:c.G174T:p.S58S,IRF6:NM_006147:exon5:c.G459T:p.S153S exonic ENSG00000117595 NA synonymous SNV ENSG00000117595:ENST00000542854:exon3:c.G174T:p.S58S,ENSG00000117595:ENST00000456314:exon4:c.G459T:p.S153S,ENSG00000117595:ENST00000367021:exon5:c.G459T:p.S153S Score=543;Name=lod=215 NA 1q32.2 NA Name=Pol2(b) Name=3 NA rs2013162 0.4 0.4 0.37 0.403754 0.3608 0.5843 0.4769 0.2428 0.4274 0.37 0.57 0.44 0.23 0.402 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47413 1.47413 NA 0.368488 0.291421 NA 0.457 NA 7.5353786 898 9 79322068 79322068 G T exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.C5122A:p.H1708N exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.C5122A:p.H1708N,ENSG00000106772:ENST00000428286:exon8:c.C4045A:p.H1349N NA NA 9q21.2 NA NA NA NA rs683866 0.5 0.5 0.502 0.501597 0.5984 0.4454 0.6427 0.3419 0.5757 0.58 0.45 0.63 0.36 0.5833 0.63 0.53 T 0.005 B 0.002 B 0.632 N 0.004 P 0.69 N 1.1 T -0.927 T 0.000 T 0.064 -1.274 0.044 5.19 2.413 0.848 11.508 -1.274175 NA 0.5 0.616276 0.407526 NA 0.558 NA 7.5353574 899 15 45554267 45554267 C A exonic SLC28A2 NA nonsynonymous SNV SLC28A2:NM_004212:exon4:c.C225A:p.S75R exonic ENSG00000137860 NA nonsynonymous SNV ENSG00000137860:ENST00000560438:exon3:c.C189A:p.S63R,ENSG00000137860:ENST00000347644:exon4:c.C225A:p.S75R NA NA 15q21.1 NA NA NA NA rs1060896 0.34 0.34 0.315 0.313099 0.6322 0.1181 0.3905 0.1082 0.408 0.65 0.06 0.43 0.12 0.5018 0.66 0.57 T 0.0 B 0.0 B 0.238 N 1.000 P -0.205 N -1.43 T -0.960 T 0.000 T 0.426 0.428 6.322 -3.67 -0.195 -1.600 1.300 0.427502 NA 0.56 0.664728 0.19586 NA 0.435 NA 7.5346054 899 1 183604905 183604905 A G UTR5 ARPC5 NM_005717:c.-111T>C,NM_001270439:c.-111T>C NA NA upstream ENSG00000143344,ENSG00000162704 NA NA NA Score=499;Name=lod=142 NA 1q25.3 Score=792;Name=V$OLF1_01 Name=NRSF,RFX5_(N-494),PU.1,Pol2,Pol2(phosphoS2),TAF7_(SQ-8),Sin3Ak-20,HA-E2F1,c-Fos,E2F1,Pol2-4H8,E2F6,HDAC2_(SC-6296),E2F6_(H-50),ETS1,Pol2(b),TAF1,AP-2alpha,ELK4,POU2F2,E2F4,GABP,Nrf1,TBP,CCNT2,ZBTB7A_(SC-34508),NFKB,HEY1,ELF1_(SC-631),PAX5-C20,Oct-2 Name=148 NA rs2767305 0.47 0.47 0.455 0.513578 0.4672 0.2748 0.5648 0.789 0.3988 0.46 0.22 0.54 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.952684 2.952684 NA NA NA NA 0.529 NA 7.5328 899 9 131584631 131584631 C T exonic ENDOG NA synonymous SNV ENDOG:NM_004435:exon3:c.C636T:p.Y212Y exonic ENSG00000167136 NA synonymous SNV ENSG00000167136:ENST00000372642:exon3:c.C636T:p.Y212Y NA NA 9q34.11 Score=782;Name=V$MEF2_04 NA Name=2 NA rs2280844 0.09 0.09 0.084 0.0832668 0.0408 0.0933 0.0432 0.1346 0.0757 0.04 0.11 0.06 0.15 0.0543 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475314 NA 1 0.039186 0.114163 NA 0.094 NA 7.5323806 899 16 32191941 32191941 C T intergenic HERC2P4,TP53TG3D dist=28067;dist=72709 NA NA ncRNA_exonic ENSG00000230267 NA NA NA Score=422;Name=lod=69 NA 16p11.2 NA NA NA NA rs690041 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA 0.4679 0.022 1 T . . . . . . . . . . . . -0.980 T 0.038 T . 1.345 10.42 2.51 0.211 2.673 5.906 1.345209 1.345209 1 NA NA NA 0.014 NA 7.5321 899 17 18918396 18918396 G C exonic SLC5A10 NA synonymous SNV SLC5A10:NM_001270648:exon10:c.G1044C:p.A348A,SLC5A10:NM_001270649:exon10:c.G1017C:p.A339A,SLC5A10:NM_001042450:exon11:c.G1125C:p.A375A,SLC5A10:NM_152351:exon11:c.G1173C:p.A391A exonic ENSG00000154025 NA synonymous SNV ENSG00000154025:ENST00000317977:exon10:c.G924C:p.A308A,ENSG00000154025:ENST00000395642:exon10:c.G924C:p.A308A,ENSG00000154025:ENST00000395643:exon10:c.G1044C:p.A348A,ENSG00000154025:ENST00000417251:exon10:c.G1017C:p.A339A,ENSG00000154025:ENST00000395645:exon11:c.G1125C:p.A375A,ENSG00000154025:ENST00000395647:exon11:c.G1173C:p.A391A Score=463;Name=lod=102 NA 17p11.2 Score=786;Name=V$YY1_02 NA NA NA rs2074279 0.17 0.17 0.167 0.199081 0.0288 0.3413 0.0663 0.3336 0.1401 0.03 0.33 0.07 0.28 0.0862 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022331 NA NA 0.021744 0.274399 NA 0.181 NA 7.5299226 899 11 4674575 4674575 G A exonic OR51E1 NA synonymous SNV OR51E1:NM_152430:exon2:c.G819A:p.P273P exonic ENSG00000180785 NA nonsynonymous SNV ENSG00000180785:ENST00000530215:exon2:c.G149A:p.R50H NA NA 11p15.4 Score=813;Name=V$BACH1_01 NA NA NA rs3817098 0.31 0.31 0.304 0.29353 0.499 0.0556 0.4179 0.2012 0.364 0.49 0.07 0.43 0.21 0.4296 0.54 0.22 T . . . . . . 1.000 P . . 1.22 T -0.930 T 0.000 T . 1.993 12.62 -0.309 -0.131 -1.771 2.452 1.992606 1.992606 NA 0.542345 0.242163 NA 0.283 NA 7.529055 899 20 33971914 33971914 C T exonic UQCC NA nonsynonymous SNV UQCC:NM_018244:exon3:c.G152A:p.R51Q,UQCC:NM_199487:exon3:c.G152A:p.R51Q exonic ENSG00000101019 NA nonsynonymous SNV ENSG00000101019:ENST00000349714:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000359226:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000374384:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000374385:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000397554:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000407996:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000443429:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000453855:exon3:c.G149A:p.R50Q,ENSG00000101019:ENST00000542501:exon3:c.G152A:p.R51Q,ENSG00000101019:ENST00000438533:exon4:c.G194A:p.R65Q NA NA 20q11.22 NA NA NA NA rs4911494 0.59 0.59 0.57 0.527556 0.6203 0.7113 0.7104 0.3056 0.4131 0.61 0.75 0.68 0.31 0.577 0.75 0.35 T 0.022 B 0.004 B 0.107 N 1.000 P -0.46 N 1.57 T -0.976 T 0.000 T 0.204 -0.077 3.625 -9.24 -1.403 -0.101 1.846 -0.076667 NA 0.37 0.607674 0.365865 NA 0.522 NA 7.5283594 899 6 28297368 28297368 G A exonic ZSCAN31 NA synonymous SNV ZSCAN31:NM_001135216:exon2:c.C93T:p.N31N,ZSCAN31:NM_001243241:exon2:c.C93T:p.N31N,ZSCAN31:NM_030899:exon2:c.C93T:p.N31N exonic ENSG00000235109 NA synonymous SNV ENSG00000235109:ENST00000344279:exon2:c.C93T:p.N31N,ENSG00000235109:ENST00000439158:exon2:c.C93T:p.N31N,ENSG00000235109:ENST00000439636:exon2:c.C93T:p.N31N,ENSG00000235109:ENST00000447021:exon2:c.C93T:p.N31N,ENSG00000235109:ENST00000453745:exon2:c.C93T:p.N31N,ENSG00000235109:ENST00000426756:exon3:c.C93T:p.N31N,ENSG00000235109:ENST00000434036:exon4:c.C93T:p.N31N,ENSG00000235109:ENST00000446222:exon4:c.C93T:p.N31N,ENSG00000235109:ENST00000396838:exon6:c.C93T:p.N31N,ENSG00000235109:ENST00000414429:exon6:c.C93T:p.N31N NA NA 6p22.1 Score=744;Name=V$STAT5A_02 Name=ZNF263 NA NA rs41269297 0.02 0.02 0.018 0.0197684 0.0547 NA 0.0288 0.0015 0.0225 0.05 NA 0.02 0.0041 0.033 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041964 NA NA 0.050698 0.011348 NA 0.029 NA 7.5282686 899 3 111996554 111996554 T C exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon5:c.A472G:p.I158V exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000471295:exon4:c.A472G:p.I158V,ENSG00000172139:ENST00000486574:exon4:c.A253G:p.I85V,ENSG00000172139:ENST00000305815:exon5:c.A472G:p.I158V,ENSG00000172139:ENST00000487372:exon5:c.A472G:p.I158V NA NA 3q13.2 NA NA NA NA rs9828502 0.3 0.3 0.28 0.310903 0.2346 0.2976 0.4006 0.3116 0.3384 0.24 0.3 0.38 0.32 0.3006 0.38 0.05 D 0.003 B 0.011 B 0.002 N 1.000 P 1.67 L 3.95 T -0.934 T 0.000 T 0.09 -1.186 0.08 -1.34 -0.872 0.134 5.697 -1.185856 NA 0.46 0.271279 0.315933 NA 0.29 NA 7.5268544 899 1 11579470 11579470 G A exonic PTCHD2 NA nonsynonymous SNV PTCHD2:NM_020780:exon8:c.G1948A:p.A650T exonic ENSG00000204624 NA nonsynonymous SNV ENSG00000204624:ENST00000294484:exon8:c.G1948A:p.A650T,ENSG00000204624:ENST00000389575:exon8:c.G1948A:p.A650T NA NA 1p36.22 NA NA NA NA rs2072994 0.43 0.43 0.378 0.359824 0.6471 0.2698 0.6556 0.0545 0.3599 0.66 0.28 0.67 0.06 0.5442 0.67 0.46 T 0.004 B 0.002 B 0.603 N 1.000 P 0.49 N -2.47 D -0.979 T 0.000 T 0.007 -1.013 0.242 -5.84 -0.682 -0.647 8.041 -1.012886 NA 0.12 0.615689 0.140238 NA 0.449 NA 7.5263444 899 12 133384864 133384864 G A exonic GOLGA3 NA nonsynonymous SNV GOLGA3:NM_001172557:exon5:c.C791T:p.P264L,GOLGA3:NM_005895:exon5:c.C791T:p.P264L exonic ENSG00000090615 NA nonsynonymous SNV ENSG00000090615:ENST00000450791:exon4:c.C791T:p.P264L,ENSG00000090615:ENST00000537452:exon4:c.C791T:p.P264L,ENSG00000090615:ENST00000204726:exon5:c.C791T:p.P264L,ENSG00000090615:ENST00000456883:exon5:c.C791T:p.P264L,ENSG00000090615:ENST00000545875:exon5:c.C791T:p.P264L NA NA 12q24.33 NA NA NA NA rs3741486 0.18 0.18 0.156 0.141973 0.2813 0.1736 0.1571 0.0106 0.1329 0.29 0.18 0.16 0.02 0.2284 0.3 0.02 D 0.011 B 0.002 B 0.718 N 1.000 P 1.155 L 1.63 T -0.977 T 0.000 T 0.046 -0.689 1.008 0.791 0.310 0.439 9.749 -0.688716 NA 0.11 0.297558 0.051067 NA 0.167 NA 7.5260754 900 6 32826233 32826233 A G exonic PSMB9 NA synonymous SNV PSMB9:NM_002800:exon5:c.A483G:p.A161A exonic ENSG00000240065 NA synonymous SNV ENSG00000240065:ENST00000453265:exon4:c.A351G:p.A117A,ENSG00000240065:ENST00000374859:exon5:c.A483G:p.A161A,ENSG00000240065:ENST00000395330:exon5:c.A414G:p.A138A NA NA 6p21.32 Score=880;Name=V$TATA_01 Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs20547 0.09 0.09 0.08 0.100439 0.0338 0.2093 0.1095 0.0189 0.1605 0.02 0.23 0.11 0.02 0.0742 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.150174 NA NA 0.036189 0.021509 NA 0.08 NA 7.5224776 900 9 130197414 130197414 A G exonic ZNF79 NA nonsynonymous SNV ZNF79:NM_007135:exon3:c.A151G:p.R51G exonic ENSG00000196152 NA nonsynonymous SNV ENSG00000196152:ENST00000342483:exon3:c.A151G:p.R51G,ENSG00000196152:ENST00000543471:exon4:c.A79G:p.R27G NA NA 9q33.3 NA NA NA NA rs4504745 0.57 0.57 0.562 0.560903 0.6342 0.4107 0.6513 0.6195 0.4969 0.64 0.41 0.61 0.62 0.5882 0.65 0.05 D 0.0 B 0.0 B . . 1.000 P -0.755 N 5.7 T -1.079 T 0.000 T 0.029 1.233 9.998 2.5 0.263 0.620 5.010 1.232685 NA 0.19 0.588837 0.647072 NA 0.471 NA 7.5220964 900 6 29555864 29555864 C T exonic OR2H2 NA nonsynonymous SNV OR2H2:NM_007160:exon1:c.C143T:p.A48V exonic ENSG00000204657 NA nonsynonymous SNV ENSG00000204657:ENST00000383640:exon1:c.C143T:p.A48V NA NA 6p22.1 NA NA NA NA rs1233387 0.32 0.32 0.294 0.343051 0.2555 0.4831 0.3559 0.2685 0.3804 0.24 0.48 0.3 0.25 0.303 0.48 0.49 T 0.0 B 0.0 B 0.853 N 1.000 P -0.16 N 5.37 T -0.977 T 0.001 T 0.015 0.263 5.424 1.96 -0.043 -1.347 0.810 0.263305 NA 0.5 0.253045 0.260093 ID=COSM451138;OCCURENCE=1(breast) 0.268 NA 7.5217884 900 4 10027542 10027542 C T exonic SLC2A9 NA nonsynonymous SNV SLC2A9:NM_001001290:exon2:c.G49A:p.A17T exonic ENSG00000109667 NA nonsynonymous SNV ENSG00000109667:ENST00000309065:exon2:c.G49A:p.A17T,ENSG00000109667:ENST00000513129:exon2:c.G49A:p.A17T,ENSG00000109667:ENST00000506583:exon3:c.G49A:p.A17T NA NA 4p16.1 NA NA NA NA rs6820230 0.28 0.28 0.288 0.26857 0.2972 0.0972 0.2205 0.5507 0.0685 0.28 0.09 0.23 0.55 0.2428 0.55 . . 0.0 B 0.001 B . . 1.000 P 0.895 L -1.62 D -0.958 T 0.000 T 0.008 -0.126 3.384 0.892 0.155 -0.100 3.619 -0.125708 NA 0.39 0.272093 0.493191 NA 0.326 NA 7.5212404 900 19 33467357 33467357 G A exonic C19orf40 NA synonymous SNV C19orf40:NM_152266:exon5:c.G417A:p.E139E exonic ENSG00000131944 NA synonymous SNV ENSG00000131944:ENST00000590179:exon3:c.G132A:p.E44E,ENSG00000131944:ENST00000589646:exon4:c.G132A:p.E44E,ENSG00000131944:ENST00000588258:exon5:c.G417A:p.E139E,ENSG00000131944:ENST00000590281:exon5:c.G417A:p.E139E Score=461;Name=lod=100 NA 19q13.11 NA Name=CTCF_(SC-5916),CTCF,Rad21,SMC3_(ab9263),Znf143_(16618-1-AP) Name=142 NA rs2304102 0.43 0.43 0.391 0.423922 0.3757 0.4365 0.6023 0.4024 0.363 0.38 0.45 0.56 0.39 0.4029 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.806357 NA NA 0.367674 0.398774 NA 0.449 NA 7.5203926 900 14 31355096 31355096 C G exonic COCH NA nonsynonymous SNV COCH:NM_001135058:exon10:c.C1055G:p.T352S,COCH:NM_004086:exon11:c.C1055G:p.T352S exonic ENSG00000100473 NA nonsynonymous SNV ENSG00000100473:ENST00000382493:exon5:c.C608G:p.T203S,ENSG00000100473:ENST00000460581:exon9:c.C719G:p.T240S,ENSG00000100473:ENST00000216361:exon10:c.C1055G:p.T352S,ENSG00000100473:ENST00000475087:exon10:c.C1055G:p.T352S,ENSG00000100473:ENST00000396618:exon11:c.C1055G:p.T352S NA NA 14q12 NA NA NA NA rs1045644 0.47 0.47 0.433 0.411342 0.6342 0.3611 0.6311 0.2141 0.3446 0.63 0.35 0.61 0.24 0.5491 0.63 0.89 T 0.003 B 0.002 B 0.001 N 1.000 P -1.5 N -1.14 T -0.932 T 0.000 T 0.149 1.954 12.49 4.18 0.846 1.416 16.910 1.953829 1.953829 0.69 0.629651 0.282342 NA 0.406 NA 7.5203824 900 3 111918215 111918215 C T exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon20:c.G2476A:p.G826S exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon19:c.G2332A:p.G778S,ENSG00000172139:ENST00000305815:exon20:c.G2476A:p.G826S NA NA 3q13.2 NA NA NA NA rs28516377 0.25 0.25 0.267 0.335863 0.2376 0.3393 0.4049 0.3699 0.3384 0.19 0.28 0.33 0.23 0.3059 0.36 0.53 T 0.255 B 0.053 B 0.895 N 1.000 P 0.345 N -0.98 T -1.087 T 0.000 T 0.04 -1.394 0.024 -3.0 -0.760 0.009 8.727 -1.394455 NA 0.19 0.269544 0.362335 ID=COSM445305;OCCURENCE=1(breast) NA NA 7.5202894 900 4 5749904 5749904 T C exonic EVC NA synonymous SNV EVC:NM_153717:exon8:c.T969C:p.N323N exonic ENSG00000072840 NA synonymous SNV ENSG00000072840:ENST00000264956:exon8:c.T969C:p.N323N,ENSG00000072840:ENST00000382674:exon8:c.T969C:p.N323N,ENSG00000072840:ENST00000509451:exon8:c.T969C:p.N323N Score=497;Name=lod=139 NA 4p16.2 NA Name=c-Jun Name=109 NA rs4688963 0.46 0.46 0.468 0.471446 0.3569 0.6171 0.3098 0.4879 0.5317 0.35 0.65 0.3 0.55 0.4177 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.316554 2.316554 NA 0.373256 0.468906 NA 0.399 NA 7.5188106 900 17 45822579 45822579 G A exonic TBX21 NA synonymous SNV TBX21:NM_013351:exon6:c.G1455A:p.P485P exonic ENSG00000073861 NA synonymous SNV ENSG00000073861:ENST00000177694:exon6:c.G1455A:p.P485P Score=363;Name=lod=40 NA 17q21.32 NA Name=Rad21,CTCF NA NA rs12721470 0.05 0.05 0.037 0.0880591 0.0427 0.0694 0.0778 0.0628 0.1953 0.04 0.05 0.08 0.06 0.0695 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.028391 NA NA 0.036279 0.055833 NA 0.036 NA 7.5181876 900 15 86123170 86123170 G T exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.G1871T:p.G624V,AKAP13:NM_007200:exon7:c.G1871T:p.G624V exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.G1871T:p.G624V,ENSG00000170776:ENST00000394518:exon7:c.G1871T:p.G624V,ENSG00000170776:ENST00000559362:exon7:c.G1871T:p.G624V NA NA 15q25.3 NA Name=CTCF NA NA rs745191 0.16 0.16 0.148 0.134585 0.3032 0.0169 0.2233 0.0106 0.1871 0.31 0.02 0.25 0.01 0.228 0.31 0.08 T 0.001 B 0.004 B . . 1.000 P 0.805 L 2.98 T -0.914 T 0.000 T 0.378 1.976 12.56 0.36 0.437 0.120 3.196 1.976134 1.976134 0 0.28402 0.048138 NA 0.232 NA 7.5181134 900 6 144181619 144181619 A G exonic LTV1 NA synonymous SNV LTV1:NM_032860:exon7:c.A852G:p.E284E exonic ENSG00000135521 NA synonymous SNV ENSG00000135521:ENST00000367576:exon7:c.A852G:p.E284E Score=471;Name=lod=109 NA 6q24.2 NA NA Name=3 NA rs7454959 0.04 0.04 0.036 0.0503195 0.0537 0.002 0.0231 0.0688 0.091 0.05 0.01 0.03 0.06 0.0499 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128152 NA NA 0.04501 0.054698 NA 0.043 NA 7.5180566 900 3 50332697 50332697 G A exonic HYAL3 NA nonsynonymous SNV HYAL3:NM_001200029:exon2:c.C337T:p.H113Y,HYAL3:NM_001200030:exon2:c.C337T:p.H113Y,HYAL3:NM_003549:exon2:c.C337T:p.H113Y exonic ENSG00000186792 NA nonsynonymous SNV ENSG00000186792:ENST00000336307:exon2:c.C337T:p.H113Y,ENSG00000186792:ENST00000359051:exon2:c.C337T:p.H113Y,ENSG00000186792:ENST00000435141:exon2:c.C337T:p.H113Y,ENSG00000186792:ENST00000450982:exon2:c.C337T:p.H113Y NA NA 3p21.31 NA NA NA NA rs13100173 0.27 0.27 0.247 0.245008 0.4632 0.0853 0.353 0.1339 0.2587 0.45 0.09 0.38 0.11 0.3689 0.48 0.04 D 0.534 P 0.15 B 0.403 U 1.000 P 1.32 L 1.97 T -0.916 T 0.000 T 0.257 -0.319 2.485 1.65 0.594 0.833 8.069 -0.3188 NA 0.09 0.48407 0.165002 NA 0.275 NA 7.5171634 900 15 78922194 78922194 G A exonic CHRNB4 NA synonymous SNV CHRNB4:NM_000750:exon5:c.C453T:p.S151S exonic ENSG00000117971 NA synonymous SNV ENSG00000117971:ENST00000261751:exon5:c.C453T:p.S151S Score=658;Name=lod=630 NA 15q25.1 NA NA NA Score=83;Name=837413_3_+_83 rs55919125 0.03 0.03 0.028 0.0221645 0.0646 NA 0.0389 0.0015 0.0174 0.06 NA 0.04 NA 0.0345 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868648 NA NA 0.05078 0.012067 NA 0.022 NA 7.5167866 900 6 29855902 29855902 G A ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341,ENSG00000230521 NA NA NA Score=358;Name=lod=38 NA 6p22.1 NA Name=CTCF,NFKB,Pol2-4H8,Pol2 Name=64 NA rs62389357 0.12 0.12 0.046 0.102037 0.0636 0.2371 0.0476 0.0015 0.1769 0.11 0.22 0.07 0.08 0.0866 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420243 NA NA NA NA NA 0.087 NA 7.5164666 901 1 111146220 111146220 C G exonic KCNA2 NA synonymous SNV KCNA2:NM_004974:exon3:c.G1185C:p.A395A exonic ENSG00000177301 NA synonymous SNV ENSG00000177301:ENST00000440270:exon2:c.G1185C:p.A395A,ENSG00000177301:ENST00000316361:exon3:c.G1185C:p.A395A,ENSG00000177301:ENST00000485317:exon3:c.G1185C:p.A395A Score=783;Name=lod=2029 NA 1p13.3 Score=874;Name=V$GR_Q6 NA NA NA rs78349687 0.02 0.02 0.012 0.0341454 0.0427 0.001 0.0274 0.0144 0.091 0.05 NA 0.04 0.0041 0.0532 0.056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373529 NA NA 0.056279 0.017022 NA 0.014 NA 7.5144876 901 17 1636934 1636934 A G exonic WDR81 NA nonsynonymous SNV WDR81:NM_001163673:exon7:c.A994G:p.M332V,WDR81:NM_001163809:exon7:c.A4603G:p.M1535V,WDR81:NM_001163811:exon7:c.A922G:p.M308V,WDR81:NM_152348:exon8:c.A1450G:p.M484V exonic ENSG00000167716 NA nonsynonymous SNV ENSG00000167716:ENST00000418841:exon4:c.A358G:p.M120V,ENSG00000167716:ENST00000468539:exon4:c.A508G:p.M170V,ENSG00000167716:ENST00000545662:exon5:c.A496G:p.M166V,ENSG00000167716:ENST00000446363:exon6:c.A520G:p.M174V,ENSG00000167716:ENST00000409644:exon7:c.A4603G:p.M1535V,ENSG00000167716:ENST00000419248:exon7:c.A922G:p.M308V,ENSG00000167716:ENST00000437219:exon7:c.A994G:p.M332V,ENSG00000167716:ENST00000309182:exon8:c.A1450G:p.M484V NA NA 17p13.3 NA NA NA NA rs3809870 0.3 0.3 0.26 0.278954 0.2744 0.4861 0.2219 0.177 0.2485 0.27 0.49 0.24 0.18 0.2811 0.49 0.6 T 0.0 B 0.0 B 0.257 N 1.000 P 0.345 N -1.07 T -1.022 T 0.000 T 0.136 -3.187 0.001 -1.04 -0.539 -0.684 9.665 -3.187157 NA 0.31 0.26352 0.182727 NA 0.181 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118855.2;CLNDSDB=.;CLNDSDBID=. 7.5143134 901 7 814788 814788 G A exonic HEATR2 NA nonsynonymous SNV HEATR2:NM_017802:exon11:c.G2228A:p.R743K exonic ENSG00000164818 NA nonsynonymous SNV ENSG00000164818:ENST00000403952:exon4:c.G503A:p.R168K,ENSG00000164818:ENST00000297440:exon11:c.G2228A:p.R743K,ENSG00000164818:ENST00000313147:exon11:c.G2228A:p.R743K Score=391;Name=lod=52 NA 7p22.3 NA NA NA NA rs3922641 0.65 0.65 0.632 0.66873 0.6054 0.62 0.6744 0.7413 0.682 0.59 0.63 0.66 0.78 0.6211 0.78 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.52 N -0.18 T -0.929 T 0.000 T 0.162 -0.019 3.916 2.76 0.009 0.903 8.382 -0.019136 NA 1 0.59314 0.692919 NA 0.616 NA 7.5136934 901 10 125528048 125528048 G A exonic CPXM2 NA synonymous SNV CPXM2:NM_198148:exon9:c.C1293T:p.Y431Y exonic ENSG00000121898 NA synonymous SNV ENSG00000121898:ENST00000241305:exon9:c.C1293T:p.Y431Y Score=594;Name=lod=345 NA 10q26.13 NA Name=CTCF Name=2 NA rs1219725 0.4 0.4 0.377 0.378794 0.3738 0.5992 0.4784 0.1528 0.3916 0.38 0.61 0.44 0.15 0.4055 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714614 NA NA 0.375349 0.191557 NA 0.304 NA 7.5120176 901 1 245849969 245849969 C T exonic KIF26B NA synonymous SNV KIF26B:NM_018012:exon12:c.C3684T:p.P1228P exonic ENSG00000162849 NA synonymous SNV ENSG00000162849:ENST00000366518:exon9:c.C2541T:p.P847P,ENSG00000162849:ENST00000407071:exon12:c.C3684T:p.P1228P Score=579;Name=lod=301 NA 1q44 Score=772;Name=V$MYOGNF1_01 NA NA NA rs116468848 0.02 0.02 0.022 0.0379393 0.0507 0.001 0.0418 0.0023 0.1084 0.06 NA 0.02 0.0041 0.0544 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867533 NA NA 0.04987 0.008916 NA 0.022 NA 7.5116966 901 20 55108617 55108617 C A exonic FAM209B NA nonsynonymous SNV FAM209B:NM_001013646:exon1:c.C220A:p.Q74K exonic ENSG00000213714 NA nonsynonymous SNV ENSG00000213714:ENST00000371325:exon1:c.C220A:p.Q74K NA NA 20q13.31 NA NA NA NA rs3209183 0.66 0.66 0.673 0.664736 0.6243 0.5456 0.5086 0.9713 0.5256 0.63 0.52 0.56 0.96 0.5888 0.96 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.055 N 3.44 T -1.006 T 0.000 T 0.029 -2.951 0.001 2.8 0.297 2.038 5.987 -2.951362 NA 1 0.609651 0.913073 NA 0.703 NA 7.5105824 901 17 20108239 20108239 A T exonic SPECC1 NA nonsynonymous SNV SPECC1:NM_001033554:exon2:c.A634T:p.M212L,SPECC1:NM_001033555:exon2:c.A634T:p.M212L,SPECC1:NM_001243438:exon2:c.A634T:p.M212L,SPECC1:NM_001033553:exon4:c.A877T:p.M293L,SPECC1:NM_001243439:exon4:c.A877T:p.M293L,SPECC1:NM_152904:exon4:c.A877T:p.M293L exonic ENSG00000128487 NA nonsynonymous SNV ENSG00000128487:ENST00000395522:exon2:c.A634T:p.M212L,ENSG00000128487:ENST00000395525:exon2:c.A634T:p.M212L,ENSG00000128487:ENST00000395530:exon2:c.A634T:p.M212L,ENSG00000128487:ENST00000261503:exon4:c.A877T:p.M293L,ENSG00000128487:ENST00000395527:exon4:c.A877T:p.M293L,ENSG00000128487:ENST00000395529:exon4:c.A877T:p.M293L NA NA 17p11.2 NA NA NA NA rs2703806 0.79 0.79 0.819 0.819289 0.5716 0.9861 0.6686 0.9713 0.8037 0.59 0.99 0.64 0.97 0.6741 0.99 1 T 0.0 B 0.0 B 0.738 N 1.000 P -1.845 N 3.17 T -0.902 T 0.000 T 0.028 -1.185 0.08 -10.8 -2.451 -2.366 3.700 -1.185106 NA 1 0.577326 0.909442 NA 0.688 NA 7.5103074 901 10 117486763 117486763 G T exonic ATRNL1 NA synonymous SNV ATRNL1:NM_207303:exon27:c.G3801T:p.L1267L exonic ENSG00000107518 NA synonymous SNV ENSG00000107518:ENST00000303745:exon7:c.G180T:p.L60L,ENSG00000107518:ENST00000423111:exon11:c.G954T:p.L318L,ENSG00000107518:ENST00000355044:exon27:c.G3801T:p.L1267L Score=624;Name=lod=456 NA 10q25.3 NA Name=GATA-2 Name=2 NA rs2254619 0.22 0.22 0.192 0.201078 0.4195 0.0387 0.2565 0.0983 0.2434 0.4 0.04 0.28 0.09 0.3255 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358663 NA NA 0.411395 0.138448 NA 0.174 NA 7.5102716 901 6 30030057 30030057 G A exonic ZNRD1 NA synonymous SNV ZNRD1:NM_170783:exon3:c.G303A:p.Q101Q,ZNRD1:NM_014596:exon4:c.G303A:p.Q101Q exonic ENSG00000066379 NA synonymous SNV ENSG00000066379:ENST00000332435:exon3:c.G303A:p.Q101Q,ENSG00000066379:ENST00000359374:exon4:c.G303A:p.Q101Q,ENSG00000066379:ENST00000376782:exon4:c.G303A:p.Q101Q,ENSG00000066379:ENST00000376785:exon4:c.G303A:p.Q101Q Score=490;Name=lod=131 NA 6p22.1 NA NA Name=4 NA rs10745 0.05 0.05 0.055 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 0.0481 0.058 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.366246 1.366246 NA 0.05814 0.051291 NA 0.029 NA 7.5097266 901 1 109479978 109479978 G T exonic CLCC1 NA nonsynonymous SNV CLCC1:NM_001048210:exon10:c.C1104A:p.S368R,CLCC1:NM_015127:exon10:c.C954A:p.S318R exonic ENSG00000121940 NA nonsynonymous SNV ENSG00000121940:ENST00000348264:exon5:c.C549A:p.S183R,ENSG00000121940:ENST00000369968:exon5:c.C549A:p.S183R,ENSG00000121940:ENST00000302500:exon7:c.C741A:p.S247R,ENSG00000121940:ENST00000369969:exon7:c.C741A:p.S247R,ENSG00000121940:ENST00000369970:exon9:c.C954A:p.S318R,ENSG00000121940:ENST00000356970:exon10:c.C1104A:p.S368R,ENSG00000121940:ENST00000369971:exon10:c.C1104A:p.S368R,ENSG00000121940:ENST00000415331:exon10:c.C954A:p.S318R NA NA 1p13.3 Score=836;Name=V$OLF1_01 NA NA NA rs168107 0.29 0.29 0.3 0.307109 0.2803 0.0377 0.2147 0.6233 0.2505 0.28 0.03 0.25 0.62 0.2782 0.62 1 T 0.003 B 0.002 B 0.001 N 0.998 P -1.975 N 0.99 T -0.937 T 0.006 T 0.037 -2.06 0.006 1.71 -0.136 0.381 8.446 -2.059776 NA 1 0.267093 0.563777 NA 0.29 NA 7.5077404 902 11 33581306 33581306 G A exonic KIAA1549L NA synonymous SNV KIAA1549L:NM_012194:exon6:c.G2976A:p.T992T exonic ENSG00000110427 NA synonymous SNV ENSG00000110427:ENST00000265654:exon6:c.G2994A:p.T998T,ENSG00000110427:ENST00000321505:exon6:c.G2976A:p.T992T,ENSG00000110427:ENST00000389726:exon6:c.G2994A:p.T998T Score=428;Name=lod=73 NA 11p13 NA NA NA NA rs2281380 0.39 0.39 0.381 0.388978 0.3887 0.3264 0.3213 0.469 0.3937 0.4 0.33 0.35 0.46 0.3877 0.46 . . . . . . . . 0.000 P . . . . -0.931 T 0.000 T . 0.664 7.557 -5.21 -0.823 -0.872 5.833 0.663994 NA NA 0.386015 0.459227 NA 0.391 NA 7.5042516 902 8 144998190 144998190 A G exonic PLEC NA synonymous SNV PLEC:NM_201378:exon31:c.T5865C:p.A1955A,PLEC:NM_201379:exon31:c.T5841C:p.A1947A,PLEC:NM_201380:exon31:c.T6318C:p.A2106A,PLEC:NM_201381:exon31:c.T5811C:p.A1937A,PLEC:NM_201382:exon31:c.T5907C:p.A1969A,PLEC:NM_201383:exon31:c.T5919C:p.A1973A,PLEC:NM_201384:exon31:c.T5907C:p.A1969A,PLEC:NM_000445:exon32:c.T5988C:p.A1996A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon31:c.T6318C:p.A2106A,ENSG00000178209:ENST00000345136:exon31:c.T5907C:p.A1969A,ENSG00000178209:ENST00000354589:exon31:c.T5907C:p.A1969A,ENSG00000178209:ENST00000354958:exon31:c.T5841C:p.A1947A,ENSG00000178209:ENST00000356346:exon31:c.T5865C:p.A1955A,ENSG00000178209:ENST00000357649:exon31:c.T5919C:p.A1973A,ENSG00000178209:ENST00000398774:exon31:c.T5811C:p.A1937A,ENSG00000178209:ENST00000527096:exon31:c.T5976C:p.A1992A,ENSG00000178209:ENST00000436759:exon32:c.T5988C:p.A1996A NA NA 8q24.3 Score=770;Name=V$MIF1_01 Name=Pol2 NA NA rs2857829 0.25 0.25 0.199 0.230831 0.4274 0.1429 0.2968 0.028 0.3466 0.42 0.16 0.3 0.03 0.3616 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.753801 NA NA 0.373666 0.082531 NA 0.138 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078882.3;CLNDSDB=.;CLNDSDBID=. 7.5040006 902 19 15222492 15222492 G A exonic SYDE1 NA synonymous SNV SYDE1:NM_033025:exon6:c.G1467A:p.Q489Q exonic ENSG00000105137 NA synonymous SNV ENSG00000105137:ENST00000600252:exon3:c.G438A:p.Q146Q,ENSG00000105137:ENST00000342784:exon6:c.G1467A:p.Q489Q,ENSG00000105137:ENST00000600440:exon6:c.G1266A:p.Q422Q Score=537;Name=lod=203 NA 19p13.12 Score=942;Name=V$SP1_01 NA NA NA rs33980637 0.03 0.03 0.029 0.0413339 0.0517 0.0218 0.0389 0.0045 0.1022 0.05 0.01 0.04 0.01 0.0526 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770305 NA NA 0.058488 0.012937 NA 0.08 NA 7.5038786 902 7 103141351 103141351 G A exonic RELN NA synonymous SNV RELN:NM_005045:exon53:c.C8508T:p.F2836F,RELN:NM_173054:exon53:c.C8508T:p.F2836F exonic ENSG00000189056 NA synonymous SNV ENSG00000189056:ENST00000343529:exon53:c.C8508T:p.F2836F,ENSG00000189056:ENST00000424685:exon53:c.C8508T:p.F2836F,ENSG00000189056:ENST00000428762:exon53:c.C8508T:p.F2836F Score=658;Name=lod=630 NA 7q22.1 NA NA NA NA rs2229862 0.03 0.03 0.025 0.0215655 0.0736 NA 0.0288 0.0008 0.0133 0.07 NA 0.03 0.002 0.0353 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037673 NA NA 0.054302 0.012256 NA 0.036 CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000081245.3|RCV000127774.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.5034646 902 4 177100644 177100644 G A exonic WDR17 NA nonsynonymous SNV WDR17:NM_181265:exon29:c.G3766A:p.A1256T,WDR17:NM_170710:exon31:c.G3883A:p.A1295T exonic ENSG00000150627 NA nonsynonymous SNV ENSG00000150627:ENST00000508596:exon29:c.G3766A:p.A1256T,ENSG00000150627:ENST00000393643:exon30:c.G3811A:p.A1271T,ENSG00000150627:ENST00000507824:exon30:c.G3808A:p.A1270T,ENSG00000150627:ENST00000280190:exon31:c.G3883A:p.A1295T Score=366;Name=lod=41 NA 4q34.2 NA NA NA NA rs11736872 0.2 0.2 0.184 0.207069 0.2783 0.13 0.2104 0.1369 0.3057 0.28 0.11 0.23 0.14 0.2547 0.3 0.51 T 0.02 B 0.009 B 0.002 N 0.002 P 0.2 N 0.4 T -0.962 T 0.000 T 0.224 2.06 12.85 -0.869 -0.180 0.596 10.613 2.060188 2.060188 0.46 0.297442 0.153881 NA 0.181 NA 7.5028914 902 2 139308127 139308127 G A exonic SPOPL NA synonymous SNV SPOPL:NM_001001664:exon3:c.G153A:p.V51V exonic ENSG00000144228 NA synonymous SNV ENSG00000144228:ENST00000420679:exon2:c.G153A:p.V51V,ENSG00000144228:ENST00000280098:exon3:c.G153A:p.V51V,ENSG00000144228:ENST00000430968:exon3:c.G153A:p.V51V Score=686;Name=lod=818 NA 2q22.1 Score=785;Name=V$XBP1_01 NA NA NA rs35257103 0.03 0.03 0.028 0.0171725 0.0626 NA 0.013 0.0083 0.0031 0.07 NA 0.01 0.01 0.0364 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.941454 NA NA 0.064798 0.014072 NA 0.014 NA 7.5028686 902 1 156255456 156255456 G A exonic TMEM79 NA nonsynonymous SNV TMEM79:NM_032323:exon2:c.G439A:p.V147M exonic ENSG00000163472 NA nonsynonymous SNV ENSG00000163472:ENST00000295694:exon2:c.G439A:p.V147M,ENSG00000163472:ENST00000405535:exon2:c.G439A:p.V147M NA Name=mean corpuscular hemoglobin concentration 1q22 NA NA NA NA rs6684514 0.21 0.21 0.184 0.202875 0.2694 0.2272 0.2781 0.0794 0.2229 0.27 0.24 0.23 0.08 0.2682 0.29 0.13 T 0.132 B 0.057 B 0.708 N 1.000 P 1.04 L 0.73 T -1.036 T 0.033 T 0.053 0.28 5.517 0.157 -0.510 0.585 3.24 0.280376 NA 0.17 0.293256 0.118475 NA 0.21 NA 7.5024774 902 8 57358251 57358251 C T intronic PENK NA NA NA exonic ENSG00000181195 NA nonsynonymous SNV ENSG00000181195:ENST00000518770:exon3:c.G262A:p.G88S NA NA 8q12.1 NA NA Name=8 NA rs3808634 0.24 0.24 0.231 0.223243 0.2952 0.2351 0.3631 0.0998 0.2045 0.3 0.23 0.32 0.12 0.3695 0.32 0 D 0.035 B 0.003 B . . 1.000 P . . . . -0.983 T 0.000 T 0.03 2.519 14.38 -0.098 -0.105 -0.461 2.394 2.518738 2.518738 NA NA NA NA 0.196 NA 7.5019667 902 12 125434580 125434580 C T exonic DHX37 NA nonsynonymous SNV DHX37:NM_032656:exon25:c.G3242A:p.R1081Q exonic ENSG00000150990 NA nonsynonymous SNV ENSG00000150990:ENST00000544745:exon22:c.G2603A:p.R868Q,ENSG00000150990:ENST00000308736:exon25:c.G3242A:p.R1081Q NA NA 12q24.31 NA NA NA NA rs4447263 0.62 0.62 0.594 0.648363 0.6004 0.8452 0.6643 0.4115 0.8037 0.59 0.84 0.65 0.38 0.6448 0.84 0.34 T 0.04 B 0.005 B 0.836 N 1.000 P 1.24 L 4.12 T -0.903 T 0.000 T 0.055 1.487 10.92 -8.3 -2.257 -0.027 27.694 1.487 1.487 0.5 0.587442 0.412846 NA 0.486 NA 7.5006914 902 6 57467100 57467100 G C exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA stoploss ENSG00000146143:ENST00000607273:exon11:c.G1041C:p.X347Y Score=531;Name=lod=191 NA 6p11.2 Score=777;Name=V$MEF2_01 NA NA NA rs4535533 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.973848 1.973848 NA NA NA NA 0.551 NA 7.5 902 3 186501367 186501367 T C UTR5 EIF4A2 NM_001967:c.-33T>C NA NA ncRNA_exonic ENSG00000263826 NA NA NA Score=461;Name=lod=100 NA 3q27.3 NA Name=c-Myc,STAT1,NFKB,HEY1,ZEB1_(SC-25388),BCL3,PAX5-C20,Oct-2,p300_(N-15),TCF12,GTF2B,TBP,GTF2F1_(RAP-74),IRF1,CHD2_(N-1250),JunD,eGFP-JunB,GATA-1,Pol2(b),TAF1,ETS1,CTCFL_(SC-98982),POU2F2,ZBTB33,Pol2,NELFe,NRSF,SP1,YY1,Pol2(phosphoS2),Egr-1,Sin3Ak-20,YY1_(C-20),HA-E2F1,BCLAF1_(M33-P5B11),TAF7_(SQ-8),KAP1,Pol2-4H8,TR4 Name=148 NA rs371038888 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008238 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.943441 2.943441 NA 0 0.000227 NA NA NA 7.4999918 902 9 115759518 115759518 C T exonic ZNF883 NA nonsynonymous SNV ZNF883:NM_001101338:exon5:c.G1022A:p.R341Q ncRNA_exonic ENSG00000228623 NA NA NA NA NA 9q32 NA Name=SETDB1,KAP1 Name=8 NA rs376231861 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00008293 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926876 NA NA 0 0.000234 NA NA NA 7.4999171 902 6 32609192 32609192 A G exonic HLA-DQA1 NA nonsynonymous SNV HLA-DQA1:NM_002122:exon2:c.A188G:p.E63G exonic ENSG00000196735 NA nonsynonymous SNV ENSG00000196735:ENST00000343139:exon2:c.A188G:p.E63G,ENSG00000196735:ENST00000374949:exon2:c.A188G:p.E63G,ENSG00000196735:ENST00000395363:exon2:c.A188G:p.E63G,ENSG00000196735:ENST00000496318:exon2:c.A188G:p.E63G NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1142323 0.3 0.3 0.283 0.283347 0.3002 0.246 0.3487 0.3275 0.1984 0.28 0.23 0.37 0.33 0.2894 0.37 0.34 T 0.007 B 0.01 B 0.710 U 1.000 P 0.765 N 5.67 T -1.065 T 0.045 T 0.559 -1.18 0.083 1.4 0.191 0.495 9.286 -1.179542 NA 0.29 0.243905 0.262284 NA 0.116 NA 7.4998284 902 19 20748558 20748558 G A UTR5 ZNF737 NM_001159293:c.-112C>T NA NA ncRNA_UTR5 ENSG00000237440 NA NA NA NA NA 19p12 NA Name=TBP,HEY1,IRF3,Sin3Ak-20,c-Fos,GATA-2,Pol2-4H8,NF-YB,Oct-2,ELF1_(SC-631),SP1,Pol2,POU2F2,TAF1,NF-YA Name=140 NA NA NA NA NA 0.000399361 0.001 NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317954 NA NA NA NA NA NA NA 7.499 902 11 5537161 5537161 A G exonic UBQLNL NA nonsynonymous SNV UBQLNL:NM_145053:exon1:c.T511C:p.C171R exonic ENSG00000175518 NA nonsynonymous SNV ENSG00000175518:ENST00000380184:exon1:c.T511C:p.C171R NA NA 11p15.4 NA NA NA NA rs2047456 0.33 0.33 0.299 0.315695 0.2555 0.376 0.3487 0.3328 0.2689 0.27 0.41 0.31 0.35 0.308 0.41 0.22 T 0.0 B 0.0 B 0.130 N 1.000 P -0.345 N 0.9 T -0.959 T 0.000 T 0.024 -2.103 0.006 -3.1 -0.345 -0.203 3.456 -2.103227 NA 0.89 0.272167 0.320309 NA 0.268 NA 7.4976664 902 12 45417666 45417666 T C exonic DBX2 NA nonsynonymous SNV DBX2:NM_001004329:exon3:c.A511G:p.M171V exonic ENSG00000185610 NA nonsynonymous SNV ENSG00000185610:ENST00000332700:exon3:c.A511G:p.M171V NA NA 12q12 NA NA NA NA rs2731038 0.68 0.68 0.683 0.725839 0.5835 0.8075 0.7277 0.6604 0.8753 0.58 0.8 0.71 0.66 0.6662 0.8 1 T 0.0 B 0.0 B 0.118 N 1.000 P -0.46 N -2.61 D -0.946 T 0.000 T 0.018 -2.024 0.006 3.42 0.708 -0.138 6.420 -2.024124 NA 1 0.58814 0.620971 NA 0.587 NA 7.4954934 903 17 26519204 26519204 C T exonic NLK NA synonymous SNV NLK:NM_016231:exon10:c.C1494T:p.I498I exonic ENSG00000087095 NA synonymous SNV ENSG00000087095:ENST00000407008:exon10:c.C1494T:p.I498I,ENSG00000087095:ENST00000496808:exon10:c.C1338T:p.I446I Score=687;Name=lod=825 NA 17q11.2 Score=838;Name=V$TAXCREB_01 NA NA NA rs3182380 0.03 0.03 0.023 0.0195687 0.0616 NA 0.0375 0.0023 0.0072 0.06 NA 0.04 0.002 0.0524 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178473 NA NA 0.057674 0.013845 NA 0.072 NA 7.4949926 903 1 3425183 3425183 G A exonic MEGF6 NA synonymous SNV MEGF6:NM_001409:exon13:c.C1599T:p.C533C exonic ENSG00000162591 NA synonymous SNV ENSG00000162591:ENST00000294599:exon10:c.C1284T:p.C428C,ENSG00000162591:ENST00000356575:exon13:c.C1599T:p.C533C,ENSG00000162591:ENST00000485002:exon13:c.C1620T:p.C540C Score=304;Name=lod=23 NA 1p36.32 Score=827;Name=V$NFKB_Q6 NA NA NA rs61735125 0.06 0.06 0.058 0.0648962 0.0507 0.1032 0.0519 0.028 0.0992 0.05 0.09 0.06 0.03 0.062 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008036 NA NA 0.059719 0.034772 NA 0.065 NA 7.4942476 903 1 70904800 70904800 G T exonic CTH NA nonsynonymous SNV CTH:NM_001190463:exon11:c.G1112T:p.S371I,CTH:NM_153742:exon11:c.G1076T:p.S359I,CTH:NM_001902:exon12:c.G1208T:p.S403I exonic ENSG00000116761 NA nonsynonymous SNV ENSG00000116761:ENST00000346806:exon11:c.G1076T:p.S359I,ENSG00000116761:ENST00000411986:exon11:c.G1112T:p.S371I,ENSG00000116761:ENST00000370938:exon12:c.G1208T:p.S403I NA NA 1p31.1 NA NA NA NA rs1021737 0.23 0.23 0.203 0.205272 0.2584 0.2173 0.3703 0.0628 0.2137 0.27 0.22 0.36 0.08 0.277 0.36 0.12 T 0.343 B 0.206 B 0.335 N 1.000 P 0 N -0.65 T -1.095 T 0.073 T 0.293 -0.158 3.23 0.838 0.308 0.035 6.440 -0.15773 NA 0.11 0.304302 0.108034 NA 0.159 CLINSIG=pathogenic;CLNDBN=Homocysteine\x2c_total_plasma\x2c_elevated;CLNREVSTAT=single;CLNACC=RCV000003075.1;CLNDSDB=.;CLNDSDBID=. 7.4936314 903 4 57190356 57190356 G A exonic KIAA1211 NA synonymous SNV KIAA1211:NM_020722:exon10:c.G3465A:p.R1155R exonic ENSG00000109265 NA synonymous SNV ENSG00000109265:ENST00000504228:exon8:c.G3465A:p.R1155R,ENSG00000109265:ENST00000541073:exon9:c.G3444A:p.R1148R,ENSG00000109265:ENST00000264229:exon10:c.G3465A:p.R1155R Score=381;Name=lod=47 NA 4q12 Score=733;Name=V$SEF1_C Name=Egr-1 NA NA rs7695701 0.23 0.23 0.206 0.225439 0.4135 0.0704 0.268 0.0968 0.3354 0.42 0.06 0.28 0.11 0.3457 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664836 NA NA 0.414488 0.131206 ID=COSM1131105;OCCURENCE=1(prostate) 0.268 NA 7.4929786 903 11 66103880 66103880 G A UTR5 RIN1 NM_004292:c.-7C>T NA NA ncRNA_exonic ENSG00000254756 NA NA NA Score=358;Name=lod=38 NA 11q13.2 NA Name=ELF1_(SC-631),TAF1,GABP,Mxi1_(bHLH),Pol2,Pol2(phosphoS2),c-Myc,HEY1,TBP,Pol2(b),FOSL2,c-Jun,Sin3Ak-20,Pol2-4H8 Name=142 NA rs201696075 0.0009 0.0009 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0029 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.092844 2.092844 NA 0.002678 0.000455 NA NA NA 7.492422 903 19 14875388 14875388 G A exonic EMR2 NA nonsynonymous SNV EMR2:NM_001271052:exon10:c.C941T:p.A314V,EMR2:NM_013447:exon11:c.C941T:p.A314V exonic ENSG00000127507 NA nonsynonymous SNV ENSG00000127507:ENST00000392964:exon6:c.C158T:p.A53V,ENSG00000127507:ENST00000595839:exon7:c.C515T:p.A172V,ENSG00000127507:ENST00000353005:exon8:c.C515T:p.A172V,ENSG00000127507:ENST00000594076:exon8:c.C662T:p.A221V,ENSG00000127507:ENST00000353876:exon9:c.C662T:p.A221V,ENSG00000127507:ENST00000392962:exon9:c.C794T:p.A265V,ENSG00000127507:ENST00000594294:exon9:c.C794T:p.A265V,ENSG00000127507:ENST00000346057:exon10:c.C794T:p.A265V,ENSG00000127507:ENST00000392965:exon10:c.C941T:p.A314V,ENSG00000127507:ENST00000596991:exon10:c.C941T:p.A314V,ENSG00000127507:ENST00000601345:exon10:c.C941T:p.A314V,ENSG00000127507:ENST00000315576:exon11:c.C941T:p.A314V,ENSG00000127507:ENST00000392967:exon11:c.C941T:p.A314V NA NA 19p13.12 NA NA NA NA rs35612307 0.23 0.23 0.22 0.189896 0.2813 0.1667 0.3458 0.0946 0.138 0.27 0.22 0.35 0.11 0.2651 0.35 0.18 T 0.294 B 0.085 B . . 1.000 P 1.385 L 1.48 T -1.060 T 0.000 T 0.135 2.58 14.59 -3.32 -0.240 -0.787 2.223 2.579958 2.579958 0.32 0.296464 0.117393 NA 0.239 NA 7.4904694 903 7 100549967 100549967 C T intergenic ACHE,MUC12 dist=56426;dist=62937 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.C548T:p.T183M NA NA 7q22.1 NA NA NA NA rs73714231 NA NA 0.107 0.126997 0.2177 0.0278 0.1239 0.1914 0.0511 NA NA NA NA 0.1254 0.087 0.01 D . . . . . . . . 0 N . . -1.002 T 0.057 T 0.137 0.902 8.666 0.741 0.243 1.940 5.877 0.9016 NA 0.05 NA NA NA 0.08 NA 7.4902334 903 8 94808165 94808165 A G exonic TMEM67 NA nonsynonymous SNV TMEM67:NM_153704:exon18:c.A1810G:p.I604V,TMEM67:NM_001142301:exon19:c.A1567G:p.I523V exonic ENSG00000164953 NA nonsynonymous SNV ENSG00000164953:ENST00000323130:exon18:c.A1780G:p.I594V,ENSG00000164953:ENST00000453321:exon18:c.A1810G:p.I604V,ENSG00000164953:ENST00000409623:exon19:c.A1567G:p.I523V NA NA 8q22.1 NA NA NA NA rs3134031 0.69 0.69 0.681 0.692891 0.6123 0.7331 0.67 0.7625 0.6564 0.61 0.72 0.67 0.8 0.6369 0.8 0.34 T 0.0 B 0.0 B 0.636 N 1.000 P -0.755 N -3.99 D -0.947 T 0.000 T 0.041 0.113 4.609 0.316 -0.410 0.357 4.972 0.11323 NA 0.77 0.595 0.72911 NA 0.71 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114244.2;CLNDSDB=.;CLNDSDBID=. 7.4891334 903 20 20033137 20033137 T A exonic CRNKL1 NA nonsynonymous SNV CRNKL1:NM_016652:exon2:c.A333T:p.Q111H exonic ENSG00000101343 NA nonsynonymous SNV ENSG00000101343:ENST00000377327:exon2:c.A297T:p.Q99H,ENSG00000101343:ENST00000377340:exon2:c.A333T:p.Q111H,ENSG00000101343:ENST00000490910:exon2:c.A297T:p.Q99H,ENSG00000101343:ENST00000496549:exon2:c.A203T:p.K68M NA NA 20p11.23 NA Name=ELF1_(SC-631),FOXA1_(SC-101058),FOXA2_(SC-6554),Max,CTCF,GABP,CTCFL_(SC-98982),TAF1,SREBP1,ETS1,TR4,HNF4A,Pol2,SP1,Mxi1_(bHLH),PU.1,SIX5,PAX5-N19,PAX5-C20,NFKB,HEY1,c-Myc,TBP,HNF4A_(H-171),FOXA1_(C-20),FOSL2,ZNF263,KAP1,Pol2-4H8,c-Fos,Sin3Ak-20 Name=148 NA rs2255258 0.72 0.72 0.702 0.700879 0.6143 0.9375 0.755 0.6172 0.6207 0.62 0.94 0.72 0.62 0.6527 0.94 1 T 0.0 B 0.0 B 0.175 N 1.000 P 0 N 1.35 T -0.944 T 0.000 T 0.048 0.095 4.514 -1.8 -0.422 -0.423 0.331 0.095451 NA 1 0.577674 0.616886 NA 0.667 NA 7.4886594 903 12 14018777 14018777 G C exonic GRIN2B NA synonymous SNV GRIN2B:NM_000834:exon2:c.C366G:p.P122P exonic ENSG00000150086 NA synonymous SNV ENSG00000150086:ENST00000279593:exon2:c.C366G:p.P122P Score=582;Name=lod=309 NA 12p13.1 Score=946;Name=V$GATA2_01 NA NA NA rs7301328 0.4 0.4 0.396 0.441494 0.3618 0.4931 0.3112 0.4955 0.4898 0.37 0.46 0.28 0.47 0.4172 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819978 NA NA 0.399419 0.492737 NA 0.348 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117198.2|RCV000125320.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.4882476 903 3 193039597 193039597 G A exonic ATP13A5 NA synonymous SNV ATP13A5:NM_198505:exon16:c.C1788T:p.C596C exonic ENSG00000187527 NA synonymous SNV ENSG00000187527:ENST00000342358:exon16:c.C1788T:p.C596C Score=489;Name=lod=130 NA 3q29 Score=923;Name=V$MYB_Q6 NA NA NA rs61753889 0.06 0.06 0.051 0.0670927 0.0616 NA 0.0634 0.0946 0.1074 0.05 NA 0.06 0.12 0.0606 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15579 NA NA 0.056395 0.090331 NA 0.101 NA 7.4880716 903 9 35870001 35870001 T C exonic OR13J1 NA nonsynonymous SNV OR13J1:NM_001004487:exon1:c.A398G:p.H133R exonic ENSG00000168828 NA nonsynonymous SNV ENSG00000168828:ENST00000377981:exon1:c.A398G:p.H133R NA NA 9p13.3 Score=963;Name=V$USF_C NA Name=9 NA rs7044405 0.65 0.65 0.629 0.645767 0.6193 0.6369 0.5951 0.7239 0.6125 0.6 0.64 0.64 0.75 0.6192 0.75 0.06 T 0.0 B 0.0 B 0.001 N 1.000 P 0.615 N 5.01 T -1.097 T 0.000 T 0.012 0.472 6.564 1.76 0.143 -0.105 9.211 0.472352 NA 0.05 0.607558 0.738765 NA 0.696 NA 7.4872754 903 1 47726087 47726087 T C exonic STIL NA nonsynonymous SNV STIL:NM_001048166:exon16:c.A2954G:p.H985R,STIL:NM_003035:exon16:c.A2951G:p.H984R exonic ENSG00000123473 NA nonsynonymous SNV ENSG00000123473:ENST00000243182:exon16:c.A2951G:p.H984R,ENSG00000123473:ENST00000337817:exon16:c.A2951G:p.H984R,ENSG00000123473:ENST00000371877:exon16:c.A2954G:p.H985R,ENSG00000123473:ENST00000396221:exon16:c.A2900G:p.H967R,ENSG00000123473:ENST00000360380:exon17:c.A2951G:p.H984R NA NA 1p33 NA NA NA NA rs13376679 0.19 0.19 0.164 0.178315 0.2893 0.0298 0.2161 0.1831 0.184 0.31 0.02 0.22 0.17 0.2421 0.32 0.4 T 0.001 B 0.002 B 0.160 N 1.000 P 1.79 L 2.31 T -0.940 T 0.000 T 0.042 -0.901 0.435 0.313 0.118 0.041 8.299 -0.901436 NA 0.38 0.315116 0.219246 NA 0.254 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080043.1;CLNDSDB=.;CLNDSDBID=. 7.4868174 903 8 101252680 101252680 T C exonic SPAG1 NA nonsynonymous SNV SPAG1:NM_003114:exon18:c.T2330C:p.M777T,SPAG1:NM_172218:exon18:c.T2330C:p.M777T exonic ENSG00000104450 NA nonsynonymous SNV ENSG00000104450:ENST00000251809:exon18:c.T2330C:p.M777T,ENSG00000104450:ENST00000388798:exon18:c.T2330C:p.M777T NA NA 8q22.2 NA NA NA NA rs6511 0.64 0.64 0.628 0.627396 0.6193 0.5327 0.7233 0.7179 0.5429 0.63 0.51 0.72 0.72 0.6179 0.72 0.89 T 0.0 B 0.0 B 0.189 N 1.000 P -1.355 N 0.26 T -0.994 T 0.000 T 0.003 -1.186 0.08 -3.7 -1.149 -0.164 4.563 -1.186039 NA 1 0.609419 0.692465 ID=COSM150515;OCCURENCE=1(stomach) 0.616 NA 7.4867144 903 9 121930307 121930307 G A exonic DBC1 NA synonymous SNV DBC1:NM_014618:exon8:c.C1341T:p.C447C exonic ENSG00000078725 NA synonymous SNV ENSG00000078725:ENST00000265922:exon8:c.C1341T:p.C447C Score=606;Name=lod=386 NA 9q33.1 NA NA NA Score=80;Name=2472229.7_2_+_80 rs1043379 0.03 0.03 0.034 0.0223642 0.0656 NA 0.0447 0.003 0.0112 0.07 NA 0.05 0.0041 0.048 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282216 NA NA 0.066977 0.016114 NA 0.051 NA 7.4860896 903 10 115526177 115526177 A G exonic PLEKHS1 NA synonymous SNV PLEKHS1:NM_182601:exon2:c.A18G:p.Q6Q,PLEKHS1:NM_024889:exon3:c.A36G:p.Q12Q exonic ENSG00000148735 NA synonymous SNV ENSG00000148735:ENST00000369310:exon2:c.A18G:p.Q6Q,ENSG00000148735:ENST00000361048:exon3:c.A36G:p.Q12Q Score=565;Name=lod=264 NA 10q25.3 Score=927;Name=V$SOX5_01 NA Name=2 NA rs10885500 0.28 0.28 0.237 0.233227 0.4175 0.1379 0.4625 0.0234 0.2628 0.46 0.16 0.45 0.02 0.3584 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671425 NA NA 0.404723 0.086512 NA 0.116 NA 7.4860436 903 8 145806262 145806262 C T exonic ARHGAP39 NA synonymous SNV ARHGAP39:NM_025251:exon4:c.G480A:p.A160A exonic ENSG00000147799 NA synonymous SNV ENSG00000147799:ENST00000276826:exon2:c.G480A:p.A160A,ENSG00000147799:ENST00000377307:exon2:c.G480A:p.A160A,ENSG00000147799:ENST00000540274:exon3:c.G480A:p.A160A NA NA 8q24.3 NA Name=Pol2,TAF1,TBP,ZEB1_(SC-25388) Name=5 NA rs117042905 0.04 0.04 0.036 0.0227636 0.0736 0.001 0.0375 0.0023 0.0102 0.07 NA 0.05 0.02 0.0498 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895754 NA NA 0.05787 0.008588 ID=COSM454239;OCCURENCE=1(breast) NA NA 7.4853966 903 2 98844674 98844674 C G exonic VWA3B NA nonsynonymous SNV VWA3B:NM_144992:exon15:c.C2029G:p.L677V exonic ENSG00000168658 NA nonsynonymous SNV ENSG00000168658:ENST00000477737:exon15:c.C2029G:p.L677V NA NA 2q11.2 NA NA NA NA rs7601049 0.64 0.64 0.668 0.689097 0.6034 0.7986 0.5331 0.6346 0.8487 0.59 0.77 0.55 0.64 0.632 0.77 0.85 T 0.319 B 0.041 B 0.901 N 0.998 P 0.77 N 3.4 T -0.975 T 0.000 T 0.125 1.029 9.203 -5.07 -0.468 -1.794 3.045 1.029089 NA 0.69 0.612579 0.63812 NA 0.565 NA 7.4853544 904 18 9944956 9944956 T C exonic VAPA NA synonymous SNV VAPA:NM_003574:exon5:c.T453C:p.T151T exonic ENSG00000101558 NA synonymous SNV ENSG00000101558:ENST00000340541:exon5:c.T453C:p.T151T NA NA 18p11.22 NA Name=FOXA2_(SC-6554),CEBPB Name=6 NA rs29133 0.08 0.08 0.074 0.0842652 0.0537 0.0774 0.1052 0.1263 0.0511 0.06 0.07 0.07 0.15 0.0745 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096928 NA NA 0.053601 0.1275 NA 0.065 NA 7.4848656 904 12 52709883 52709883 T C exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon7:c.A1056G:p.E352E exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon7:c.A1056G:p.E352E Score=448;Name=lod=88 NA 12q13.13 Score=832;Name=V$ER_Q6 Name=CTCF NA NA rs2248473 0.36 0.36 0.275 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 0.3784 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453406 NA NA 0.394419 0.472991 ID=COSM147521;OCCURENCE=1(stomach) 0.42 NA 7.4843476 904 12 11339020 11339020 T A exonic TAS2R42 NA nonsynonymous SNV TAS2R42:NM_181429:exon1:c.A524T:p.Y175F exonic ENSG00000186136 NA nonsynonymous SNV ENSG00000186136:ENST00000334266:exon1:c.A524T:p.Y175F NA NA 12p13.2 NA NA NA NA rs35969491 0.57 0.57 0.53 0.540735 0.6521 0.7569 0.6167 0.1596 0.6646 0.65 0.74 0.64 0.18 0.6024 0.74 0.07 T 0.997 D 0.978 D 0.568 U 1.000 P 0.205 N 1.2 T -0.976 T 0.000 T 0.07 1.878 12.24 1.48 0.451 0.328 4.451 1.877526 1.877526 0.09 0.595009 0.214451 NA 0.457 NA 7.4838244 904 2 170062078 170062078 G C exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon41:c.C7626G:p.R2542R exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000263816:exon41:c.C7626G:p.R2542R NA NA 2q31.1 Score=834;Name=V$NFKB_Q6 NA NA NA rs13397109 0.1 0.1 0.105 0.136382 0.0547 NA 0.0576 0.3563 0.1196 0.05 NA 0.06 0.33 0.0764 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033891 NA NA 0.05186 0.305266 NA 0.145 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117544.2;CLNDSDB=.;CLNDSDBID=. 7.4837066 904 4 106604364 106604364 A G exonic INTS12 NA synonymous SNV INTS12:NM_001142471:exon7:c.T915C:p.P305P,INTS12:NM_020395:exon8:c.T915C:p.P305P exonic ENSG00000138785 NA synonymous SNV ENSG00000138785:ENST00000451321:exon7:c.T915C:p.P305P,ENSG00000138785:ENST00000340139:exon8:c.T915C:p.P305P,ENSG00000138785:ENST00000394735:exon8:c.T915C:p.P305P NA NA 4q24 NA Name=p300,FOXA1_(C-20) Name=28 NA rs34072732 0.04 0.04 0.036 0.0321486 0.0636 NA 0.0591 0.0272 0.0204 0.07 NA 0.07 0.02 0.0516 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.19646 NA NA 0.068256 0.037449 NA 0.022 NA 7.4832106 904 13 103328660 103328660 A G exonic TPP2 NA synonymous SNV TPP2:NM_003291:exon28:c.A3555G:p.A1185A exonic ENSG00000134900 NA synonymous SNV ENSG00000134900:ENST00000376065:exon28:c.A3555G:p.A1185A,ENSG00000134900:ENST00000376052:exon29:c.A3594G:p.A1198A Score=671;Name=lod=708 NA 13q33.1 Score=879;Name=V$OCT1_07 NA NA NA rs2230856 0.11 0.11 0.103 0.116813 0.0567 0.1349 0.0591 0.1921 0.0992 0.06 0.13 0.06 0.21 0.0802 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.054038 NA NA 0.047269 0.170005 NA 0.13 NA 7.4824976 904 12 9346792 9346792 G C exonic PZP NA nonsynonymous SNV PZP:NM_002864:exon11:c.C1135G:p.L379V exonic ENSG00000126838 NA nonsynonymous SNV ENSG00000126838:ENST00000381997:exon8:c.C742G:p.L248V,ENSG00000126838:ENST00000261336:exon11:c.C1135G:p.L379V NA NA 12p13.31 NA NA NA NA rs12230214 0.3 0.3 0.295 0.277756 0.3072 0.3819 0.232 0.1876 0.2945 0.29 0.38 0.28 0.24 0.2646 0.38 0.47 T 0.041 B 0.032 B 0.660 U 1.000 P 0.235 N 1.56 T -0.932 T 0.000 T 0.015 -0.809 0.653 0.366 -0.038 -0.997 2.442 -0.808602 NA 0.48 0.27907 0.181344 NA 0.341 NA 7.4824634 904 17 1542190 1542190 G A exonic SCARF1 NA nonsynonymous SNV SCARF1:NM_003693:exon8:c.C1274T:p.A425V,SCARF1:NM_145350:exon8:c.C1274T:p.A425V exonic ENSG00000074660 NA nonsynonymous SNV ENSG00000074660:ENST00000348987:exon6:c.C1016T:p.A339V,ENSG00000074660:ENST00000263071:exon8:c.C1274T:p.A425V,ENSG00000074660:ENST00000571272:exon8:c.C1274T:p.A425V NA NA 17p13.3 NA NA NA NA rs2272011 0.68 0.68 0.648 0.666733 0.6133 0.878 0.6916 0.5197 0.6851 0.61 0.89 0.68 0.55 0.6402 0.89 0.25 T 0.1 B 0.019 B 0.177 N 1.000 P 1.7 L 1.07 T -1.034 T 0.000 T 0.129 1.86 12.18 -3.51 -1.023 -0.070 8.882 1.859897 1.859897 0.34 0.597674 0.534952 ID=COSM436062;OCCURENCE=1(breast),1(large_intestine) 0.42 NA 7.4821594 904 4 110790911 110790911 A T exonic LRIT3 NA nonsynonymous SNV LRIT3:NM_198506:exon4:c.A1006T:p.M336L exonic ENSG00000183423 NA nonsynonymous SNV ENSG00000183423:ENST00000379920:exon3:c.A871T:p.M291L,ENSG00000183423:ENST00000409621:exon3:c.A457T:p.M153L,ENSG00000183423:ENST00000327908:exon4:c.A457T:p.M153L,ENSG00000183423:ENST00000594814:exon4:c.A1006T:p.M336L NA NA 4q25 NA NA NA NA rs764205 0.51 0.51 0.529 0.469649 0.6392 0.4901 0.3963 0.3911 0.4325 0.63 0.49 0.45 0.38 0.5669 0.65 0.3 T 0.375 B 0.097 B 0.516 N 1.000 P 0.945 L -0.2 T -0.918 T 0.000 T 0.157 2.145 13.13 3.12 0.404 2.364 8.129 2.144734 2.144734 0.3 0.646628 0.433046 ID=COSM1131303,COSM1131304;OCCURENCE=1(prostate) 0.391 NA 7.4806054 904 2 159166069 159166069 T C exonic CCDC148 NA nonsynonymous SNV CCDC148:NM_001171637:exon7:c.A728G:p.K243R,CCDC148:NM_138803:exon9:c.A986G:p.K329R exonic ENSG00000153237 NA nonsynonymous SNV ENSG00000153237:ENST00000536771:exon7:c.A728G:p.K243R,ENSG00000153237:ENST00000283233:exon9:c.A986G:p.K329R,ENSG00000153237:ENST00000409187:exon10:c.A1013G:p.K338R Score=448;Name=lod=88 NA 2q24.1 NA NA NA NA rs7559772 0.95 0.95 0.963 0.955871 0.9453 0.998 0.9438 0.9266 0.9714 0.95 1 0.92 0.93 0.9556 1 1 T 0.0 B 0.003 B . . 0.000 P -2.28 N 2.15 T -0.955 T 0.000 T 0.06 -1.797 0.01 3.84 0.444 2.016 13.444 -1.797078 NA 1 0.953256 0.934862 NA 0.906 NA 7.4791774 904 1 38227086 38227086 A T exonic EPHA10 NA nonsynonymous SNV EPHA10:NM_001099439:exon3:c.T841A:p.F281I,EPHA10:NM_173641:exon3:c.T841A:p.F281I exonic ENSG00000183317 NA nonsynonymous SNV ENSG00000183317:ENST00000319637:exon3:c.T841A:p.F281I,ENSG00000183317:ENST00000373048:exon3:c.T841A:p.F281I,ENSG00000183317:ENST00000427468:exon3:c.T841A:p.F281I Score=417;Name=lod=66 NA 1p34.3 NA NA NA NA rs4653328 0.36 0.36 0.343 0.353235 0.2833 0.4831 0.3012 0.4402 0.2106 0.3 0.44 0.27 0.42 0.3015 0.44 0.34 T 0.003 B 0.001 B 0.889 N 0.000 P -0.895 N 4.58 T -1.011 T 0.000 T 0.047 0.754 7.996 -1.55 -0.327 -0.342 3.998 0.754258 NA 0.36 0.271671 0.395824 NA 0.464 NA 7.4768624 905 7 154684153 154684153 T C exonic DPP6 NA nonsynonymous SNV DPP6:NM_001039350:exon26:c.T2369C:p.L790P,DPP6:NM_001936:exon26:c.T2375C:p.L792P,DPP6:NM_130797:exon26:c.T2561C:p.L854P exonic ENSG00000130226 NA nonsynonymous SNV ENSG00000130226:ENST00000427557:exon24:c.T2240C:p.L747P,ENSG00000130226:ENST00000332007:exon26:c.T2375C:p.L792P,ENSG00000130226:ENST00000377770:exon26:c.T2561C:p.L854P,ENSG00000130226:ENST00000404039:exon26:c.T2369C:p.L790P NA NA 7q36.2 NA NA NA NA rs3734960 0.33 0.33 0.309 0.35603 0.2644 0.2738 0.4611 0.5234 0.2342 0.25 0.26 0.41 0.49 0.3208 0.5 0.07 T 0.0 B 0.0 B 0.078 N 1.000 P -1.155 N 2.46 T -0.953 T 0.000 T 0.106 -0.13 3.365 2.86 0.095 0.182 9.981 -0.129586 NA 0.05 0.274175 0.496253 NA 0.312 NA 7.4739584 905 1 44686322 44686322 T C UTR3 DMAP1 NM_001034024:c.*32T>C,NM_001034023:c.*32T>C,NM_019100:c.*32T>C NA NA UTR3 ENSG00000178028 ENST00000361745:c.*32T>C,ENST00000315913:c.*32T>C,ENST00000372289:c.*32T>C NA NA Score=340;Name=lod=32 NA 1p34.1 Score=816;Name=V$FREAC3_01 Name=CTCF Name=63 NA rs12419 0.25 0.25 0.247 0.274161 0.2584 0.2371 0.3357 0.1876 0.4018 0.26 0.22 0.31 0.21 0.3022 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49709 NA NA 0.298953 0.204267 NA 0.304 NA 7.4737804 905 19 38189440 38189440 T C exonic ZNF607 NA nonsynonymous SNV ZNF607:NM_001172677:exon5:c.A1589G:p.K530R,ZNF607:NM_032689:exon5:c.A1592G:p.K531R exonic ENSG00000198182 NA nonsynonymous SNV ENSG00000198182:ENST00000355202:exon5:c.A1592G:p.K531R,ENSG00000198182:ENST00000395835:exon5:c.A1589G:p.K530R Score=422;Name=lod=69 NA 19q13.12 NA NA NA NA rs958305 0.6 0.6 0.6 0.580871 0.831 0.3006 0.6715 0.528 0.6196 0.83 0.3 0.69 0.54 0.715 0.83 0.06 T 0.997 D 0.907 P . . 0.992 P -0.045 N 1.83 T -1.004 T 0.000 T 0.062 3.621 18.42 1.19 0.127 0.118 6.251 3.620744 3.620744 0.02 0.814186 0.570132 NA 0.667 NA 7.4731474 905 4 187120211 187120211 C A exonic CYP4V2 NA nonsynonymous SNV CYP4V2:NM_207352:exon6:c.C775A:p.Q259K exonic ENSG00000145476 NA nonsynonymous SNV ENSG00000145476:ENST00000378802:exon6:c.C775A:p.Q259K Score=374;Name=lod=44 NA 4q35.2 NA NA NA NA rs13146272 0.55 0.55 0.538 0.559305 0.6451 0.4127 0.4741 0.6014 0.6258 0.66 0.37 0.51 0.6 0.5852 0.66 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.64 N -0.18 T -0.942 T 0.000 T 0.019 -0.486 1.765 0.977 -0.202 2.241 5.992 -0.485771 NA 1 0.630465 0.623922 NA 0.543 NA 7.4725684 905 16 88781073 88781073 G A exonic CTU2 NA nonsynonymous SNV CTU2:NM_001012759:exon12:c.G1280A:p.R427Q,CTU2:NM_001012762:exon12:c.G1280A:p.R427Q exonic ENSG00000174177 NA nonsynonymous SNV ENSG00000174177:ENST00000378384:exon11:c.G1019A:p.R340Q,ENSG00000174177:ENST00000312060:exon12:c.G1280A:p.R427Q,ENSG00000174177:ENST00000453996:exon12:c.G1280A:p.R427Q,ENSG00000174177:ENST00000567949:exon12:c.G1493A:p.R498Q NA NA 16q24.3 NA NA NA NA rs11549835 0.07 0.07 0.071 0.0397364 0.1292 NA 0.0375 0.0234 0.0123 0.15 NA 0.04 0.03 0.0993 0.15 0.55 T 0.661 P 0.056 B 0.994 N 1.000 P 0.345 N 2.59 T -0.978 T 0.000 T 0.144 -0.001 4.011 0.244 -0.031 0.029 4.280 -0.000621 NA 0.32 0.135718 0.03524 NA 0.036 NA 7.4691154 905 15 83680287 83680287 A G exonic C15orf40 NA nonsynonymous SNV C15orf40:NM_001160113:exon1:c.T73C:p.C25R,C15orf40:NM_001160114:exon1:c.T73C:p.C25R,C15orf40:NM_001160115:exon1:c.T73C:p.C25R,C15orf40:NM_001160116:exon1:c.T73C:p.C25R,C15orf40:NM_144597:exon1:c.T73C:p.C25R exonic ENSG00000169609 NA nonsynonymous SNV ENSG00000169609:ENST00000451195:exon1:c.T73C:p.C25R,ENSG00000169609:ENST00000510873:exon1:c.T70C:p.C24R,ENSG00000169609:ENST00000513601:exon1:c.T73C:p.C25R,ENSG00000169609:ENST00000538348:exon1:c.T73C:p.C25R,ENSG00000169609:ENST00000565712:exon1:c.T73C:p.C25R NA NA 15q25.2 NA Name=YY1_(C-20),Pol2(phosphoS2),Pol2,GABP,HMGN3,BAF155,Pol2-4H8,HA-E2F1,IRF1,TBP,HEY1 NA NA rs4842860 0.67 0.67 0.65 0.623403 0.6183 0.6905 0.7536 0.7065 0.3548 0.62 0.69 0.72 0.68 0.6181 0.72 0.17 T 0.0 B 0.0 B . . 1.000 P 0 N . . -0.995 T 0.000 T 0.444 0.675 7.612 -1.95 -1.096 0.347 3.599 0.675107 NA NA 0.628605 0.699501 NA 0.732 NA 7.4683284 905 12 2760898 2760898 C T exonic CACNA1C NA synonymous SNV CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I exonic ENSG00000151067 NA synonymous SNV ENSG00000151067:ENST00000399591:exon31:c.C4005T:p.I1335I,ENSG00000151067:ENST00000399595:exon31:c.C4005T:p.I1335I,ENSG00000151067:ENST00000399649:exon31:c.C3999T:p.I1333I,ENSG00000151067:ENST00000327702:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000344100:exon32:c.C4104T:p.I1368I,ENSG00000151067:ENST00000399597:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399601:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399603:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399617:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399621:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399629:exon32:c.C4089T:p.I1363I,ENSG00000151067:ENST00000399634:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399637:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399641:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399644:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000399655:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000402845:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000406454:exon32:c.C4038T:p.I1346I,ENSG00000151067:ENST00000335762:exon33:c.C4113T:p.I1371I,ENSG00000151067:ENST00000399606:exon33:c.C4098T:p.I1366I,ENSG00000151067:ENST00000399638:exon33:c.C4122T:p.I1374I,ENSG00000151067:ENST00000347598:exon34:c.C4182T:p.I1394I Score=498;Name=lod=141 NA 12p13.33 Score=837;Name=V$CHOP_01 NA NA NA rs56180838 0.03 0.03 0.024 0.023762 0.0825 NA 0.0389 0.003 0.0051 0.08 NA 0.03 0.0041 0.0489 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.508352 1.508352 NA 0.067341 0.014318 NA 0.036 NA 7.4679256 905 1 118624123 118624123 C T exonic SPAG17 NA synonymous SNV SPAG17:NM_206996:exon14:c.G1905A:p.P635P exonic ENSG00000155761 NA synonymous SNV ENSG00000155761:ENST00000336338:exon14:c.G1905A:p.P635P NA NA 1p12 NA Name=GATA3_(SC-268),ERalpha_a,FOXA1_(C-20),p300 Name=7 NA rs2298176 0.1 0.1 0.112 0.126398 0.0596 0.2877 0.0447 0.053 0.1861 0.06 0.24 0.04 0.06 0.0826 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72791 NA NA 0.05686 0.058557 NA 0.029 NA 7.4676066 905 16 2114407 2114407 C T exonic TSC2 NA synonymous SNV TSC2:NM_000548:exon15:c.C1578T:p.S526S,TSC2:NM_001077183:exon15:c.C1578T:p.S526S,TSC2:NM_001114382:exon15:c.C1578T:p.S526S exonic ENSG00000103197 NA synonymous SNV ENSG00000103197:ENST00000382538:exon14:c.C1431T:p.S477S,ENSG00000103197:ENST00000439673:exon14:c.C1467T:p.S489S,ENSG00000103197:ENST00000219476:exon15:c.C1578T:p.S526S,ENSG00000103197:ENST00000350773:exon15:c.C1578T:p.S526S,ENSG00000103197:ENST00000353929:exon15:c.C1578T:p.S526S,ENSG00000103197:ENST00000401874:exon15:c.C1578T:p.S526S,ENSG00000103197:ENST00000568454:exon15:c.C1611T:p.S537S Score=552;Name=lod=233 NA 16p13.3 NA NA NA NA rs34012042 0.04 0.04 0.031 0.0351438 0.0726 NA 0.0461 0.0023 0.0695 0.07 NA 0.07 0.0041 0.0573 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194198 NA NA 0.069767 0.015241 NA 0.022 CLINSIG=untested|untested|untested|untested|probable-non-pathogenic|non-pathogenic;CLNDBN=Tuberous_sclerosis_syndrome|Lymphangiomyomatosis|Lymphangiomyomatosis|Tuberous_sclerosis_syndrome|not_specified|not_provided;CLNREVSTAT=not|not|not|not|single|single;CLNACC=RCV000042418.2|RCV000055219.1|RCV000055357.1|RCV000055357.1|RCV000118700.2|RCV000125651.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:SNOMED_CT|.|.;CLNDSDBID=NBK1220:C0041341:191100:7199000|C0751674:606690:ORPHA538:73017001|C0751674:606690:ORPHA538:73017001|NBK1220:C0041341:191100:7199000|.|. 7.4669996 905 10 28378613 28378613 G A exonic MPP7 NA synonymous SNV MPP7:NM_173496:exon14:c.C1110T:p.L370L exonic ENSG00000150054 NA synonymous SNV ENSG00000150054:ENST00000441595:exon7:c.C393T:p.L131L,ENSG00000150054:ENST00000445954:exon11:c.C735T:p.L245L,ENSG00000150054:ENST00000496637:exon11:c.C1110T:p.L370L,ENSG00000150054:ENST00000540098:exon11:c.C1110T:p.L370L,ENSG00000150054:ENST00000375732:exon12:c.C1110T:p.L370L,ENSG00000150054:ENST00000337532:exon13:c.C1110T:p.L370L,ENSG00000150054:ENST00000375719:exon14:c.C1110T:p.L370L NA NA 10p12.1 NA Name=p300_(N-15),STAT3,Pol2-4H8,c-Fos,c-Jun Name=97 NA rs11006853 0.14 0.14 0.127 0.152556 0.0477 0.253 0.1268 0.1717 0.1493 0.05 0.26 0.13 0.14 0.0961 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720788 NA NA 0.05593 0.166137 ID=COSM146915;OCCURENCE=1(stomach) 0.08 NA 7.4669366 905 1 152323132 152323132 G T exonic FLG2 NA stopgain FLG2:NM_001014342:exon3:c.C7130A:p.S2377X exonic ENSG00000143520 NA stopgain ENSG00000143520:ENST00000388718:exon3:c.C7130A:p.S2377X NA NA 1q21.3 NA NA NA NA rs12568784 0.3 0.3 0.287 0.316893 0.1421 0.4554 0.4049 0.2905 0.3272 0.14 0.49 0.34 0.29 0.2323 0.49 0.81 T . . . . . . 0.971 P . . . . . . . . . 11.362 45 0.129 -0.057 0.411 2.590 11.361751 11.361751 0 0.15907 0.260554 NA 0.275 NA 7.46653 905 19 57956828 57956828 T G exonic ZNF749 NA nonsynonymous SNV ZNF749:NM_001023561:exon3:c.T2312G:p.I771R exonic ENSG00000186230 NA nonsynonymous SNV ENSG00000186230:ENST00000334181:exon3:c.T2312G:p.I771R Score=321;Name=lod=27 NA 19q13.43 NA NA NA NA rs7246856 0.69 0.69 0.697 0.707268 0.5964 0.7232 0.683 0.7322 0.7883 0.6 0.78 0.63 0.76 0.6691 0.78 1 T 0.0 B 0.0 B . . 0.784 P -1.37 N 5.0 T -1.048 T 0.000 T 0.084 -1.533 0.016 1.52 0.205 -6.581 3.475 -1.533291 NA 1 0.601443 0.710132 NA 0.688 NA 7.4663904 905 12 86198594 86198594 A G exonic RASSF9 NA synonymous SNV RASSF9:NM_005447:exon2:c.T1194C:p.T398T exonic ENSG00000198774 NA synonymous SNV ENSG00000198774:ENST00000361228:exon2:c.T1194C:p.T398T Score=284;Name=lod=19 NA 12q21.31 NA NA Name=74 NA rs11831336 0.06 0.06 0.043 0.0433307 0.0656 0.0466 0.0922 0.0265 0.0051 0.06 0.05 0.08 0.03 0.0605 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.266237 NA NA 0.074288 0.036674 NA 0.072 NA 7.4662786 905 3 6903297 6903297 C T exonic GRM7 NA synonymous SNV GRM7:NM_000844:exon1:c.C222T:p.N74N,GRM7:NM_181874:exon1:c.C222T:p.N74N exonic ENSG00000196277 NA synonymous SNV ENSG00000196277:ENST00000357716:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000389335:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000389336:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000402647:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000403881:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000440923:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000467425:exon1:c.C222T:p.N74N,ENSG00000196277:ENST00000486284:exon1:c.C222T:p.N74N Score=765;Name=lod=1714 Name=Panic disorder 3p26.1 NA NA Name=3 NA rs3749380 0.38 0.38 0.372 0.416933 0.4066 0.3214 0.4496 0.3593 0.5808 0.39 0.35 0.43 0.36 0.4178 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.706005 NA NA 0.376279 0.324784 ID=COSM1425181;OCCURENCE=1(large_intestine) 0.478 NA 7.4659876 905 17 16527357 16527357 G A exonic ZNF624 NA synonymous SNV ZNF624:NM_020787:exon6:c.C843T:p.C281C exonic ENSG00000197566 NA synonymous SNV ENSG00000197566:ENST00000311331:exon6:c.C843T:p.C281C Score=366;Name=lod=41 NA 17p11.2 NA Name=ZNF274 NA NA rs62072859 0.04 0.04 0.031 0.0301518 0.0845 NA 0.0432 0.0121 0.0204 0.08 NA 0.05 0.01 0.0494 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.867054 NA NA 0.067093 0.019545 NA 0.007 NA 7.4656736 905 9 38396502 38396502 G A exonic ALDH1B1 NA nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.G757A:p.V253M exonic ENSG00000137124 NA nonsynonymous SNV ENSG00000137124:ENST00000377698:exon2:c.G757A:p.V253M Score=385;Name=lod=49 NA 9p13.2 Score=901;Name=V$MYCMAX_02 NA NA NA rs4878199 0.93 0.93 0.927 0.938498 0.9602 1 0.9568 0.8283 0.9888 0.95 1 0.94 0.8 0.9539 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.845 N 2.42 T -1.014 T 0.000 T 0.036 -2.553 0.003 0.413 -0.448 2.723 4.952 -2.552642 NA 1 0.953837 0.85951 NA 0.92 NA 7.4653964 906 4 113352899 113352899 G A exonic ALPK1 NA nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1962A:p.M654I,ALPK1:NM_001102406:exon11:c.G2196A:p.M732I,ALPK1:NM_025144:exon11:c.G2196A:p.M732I exonic ENSG00000073331 NA nonsynonymous SNV ENSG00000073331:ENST00000504176:exon10:c.G1962A:p.M654I,ENSG00000073331:ENST00000177648:exon11:c.G2196A:p.M732I,ENSG00000073331:ENST00000458497:exon11:c.G2196A:p.M732I NA NA 4q25 NA NA NA NA rs2074379 0.64 0.64 0.651 0.626797 0.6173 0.6359 0.5576 0.7224 0.547 0.63 0.66 0.55 0.7 0.6225 0.7 0.92 T 0.0 B 0.002 B 0.769 N 1.000 P 0.29 N 4.48 T -1.057 T 0.000 T 0.065 0.382 6.077 3.31 1.141 0.648 10.926 0.382466 NA 0.45 0.630233 0.699728 NA 0.609 NA 7.4633004 906 1 118537074 118537074 A G exonic SPAG17 NA synonymous SNV SPAG17:NM_206996:exon35:c.T5133C:p.P1711P exonic ENSG00000155761 NA synonymous SNV ENSG00000155761:ENST00000437255:exon5:c.T573C:p.P191P,ENSG00000155761:ENST00000336338:exon35:c.T5133C:p.P1711P Score=393;Name=lod=53 NA 1p12 Score=839;Name=V$PPARG_03 NA NA NA rs12031260 0.11 0.11 0.092 0.128395 0.0616 0.3204 0.0418 0.034 0.1881 0.06 0.29 0.04 0.03 0.0851 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640948 NA NA 0.057106 0.041307 NA 0.036 NA 7.4628606 906 5 77425099 77425099 G A exonic AP3B1 NA synonymous SNV AP3B1:NM_001271769:exon16:c.C1536T:p.L512L,AP3B1:NM_003664:exon16:c.C1683T:p.L561L exonic ENSG00000132842 NA synonymous SNV ENSG00000132842:ENST00000255194:exon16:c.C1683T:p.L561L,ENSG00000132842:ENST00000519295:exon16:c.C1536T:p.L512L Score=884;Name=lod=5203 NA 5q14.1 Score=845;Name=V$GFI1_01 NA NA NA rs17192146 0.04 0.04 0.042 0.0341454 0.0825 NA 0.0403 0.0015 0.0593 0.09 NA 0.05 0.002 0.0543 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166252 NA NA 0.068256 0.013164 NA 0.029 NA 7.4616106 906 1 16332571 16332571 C T exonic C1orf64 NA synonymous SNV C1orf64:NM_178840:exon2:c.C240T:p.T80T exonic ENSG00000183888 NA synonymous SNV ENSG00000183888:ENST00000329454:exon2:c.C240T:p.T80T Score=352;Name=lod=36 NA 1p36.13 Score=822;Name=V$PAX4_01 NA NA NA rs1763612 0.07 0.07 0.059 0.0840655 0.0736 0.0823 0.0576 0.0514 0.1595 0.07 0.05 0.05 0.09 0.074 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440503 NA NA 0.058953 0.059464 NA 0.051 NA 7.4601136 906 4 25417109 25417109 T A exonic ANAPC4 NA synonymous SNV ANAPC4:NM_013367:exon26:c.T1848A:p.I616I exonic ENSG00000053900 NA synonymous SNV ENSG00000053900:ENST00000315368:exon26:c.T1848A:p.I616I,ENSG00000053900:ENST00000510092:exon26:c.T1851A:p.I617I Score=349;Name=lod=35 NA 4p15.2 Score=875;Name=V$S8_01 NA NA NA rs3214035 0.08 0.08 0.071 0.0810703 0.0666 0.1141 0.1009 0.0053 0.1503 0.07 0.14 0.09 0.01 0.0729 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689446 NA NA 0.067674 0.013391 NA 0.101 NA 7.4594926 906 6 44275011 44275011 T C exonic AARS2 NA nonsynonymous SNV AARS2:NM_020745:exon6:c.A1015G:p.I339V exonic ENSG00000124608 NA nonsynonymous SNV ENSG00000124608:ENST00000244571:exon6:c.A1015G:p.I339V Score=304;Name=lod=23 NA 6p21.1 NA NA NA NA rs324136 0.91 0.91 0.891 0.888978 0.9612 0.998 0.9524 0.6732 0.9489 0.96 1 0.95 0.7 0.9469 1 0.3 T 0.0 B 0.0 B 0.007 N 0.000 P -1.245 N -0.43 T -1.086 T 0.033 T 0.057 -0.595 1.336 2.88 0.396 1.993 9.255 -0.595453 NA 0.37 0.96593 0.731729 NA 0.877 NA 7.4593034 906 17 2595964 2595964 G A exonic CLUH NA synonymous SNV CLUH:NM_015229:exon21:c.C3222T:p.A1074A exonic ENSG00000132361 NA synonymous SNV ENSG00000132361:ENST00000575014:exon19:c.C3021T:p.A1007A,ENSG00000132361:ENST00000538975:exon20:c.C3222T:p.A1074A,ENSG00000132361:ENST00000435359:exon21:c.C3222T:p.A1074A,ENSG00000132361:ENST00000570628:exon21:c.C3222T:p.A1074A Score=475;Name=lod=114 NA 17p13.3 NA Name=Pol2 Name=4 NA rs2302199 0.46 0.46 0.439 0.457468 0.4235 0.501 0.3689 0.5219 0.4233 0.41 0.5 0.39 0.53 0.419 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36928 1.36928 NA 0.367911 0.508994 ID=COSM436208,COSM436207;OCCURENCE=1(breast) 0.507 NA 7.4562556 906 4 7844953 7844953 G A exonic AFAP1 NA synonymous SNV AFAP1:NM_001134647:exon5:c.C459T:p.D153D,AFAP1:NM_198595:exon5:c.C459T:p.D153D exonic ENSG00000196526 NA synonymous SNV ENSG00000196526:ENST00000360265:exon4:c.C459T:p.D153D,ENSG00000196526:ENST00000382543:exon4:c.C459T:p.D153D,ENSG00000196526:ENST00000358461:exon5:c.C459T:p.D153D,ENSG00000196526:ENST00000420658:exon5:c.C459T:p.D153D Score=627;Name=lod=472 NA 4p16.1 NA NA Name=46 NA rs28669852 0.04 0.04 0.036 0.0285543 0.0755 0.002 0.0403 0.0129 0.0204 0.08 0.0035 0.05 0.02 0.0554 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.329831 1.329831 NA 0.079767 0.021108 NA 0.029 NA 7.4559996 906 5 43245922 43245922 C T exonic NIM1 NA synonymous SNV NIM1:NM_153361:exon2:c.C45T:p.H15H exonic ENSG00000177453 NA synonymous SNV ENSG00000177453:ENST00000326035:exon2:c.C45T:p.H15H,ENSG00000177453:ENST00000512796:exon2:c.C45T:p.H15H Score=383;Name=lod=48 NA 5p12 NA Name=EBF,BCL3,BATF Name=6 NA rs13176855 0.29 0.29 0.295 0.28734 0.4344 0.1409 0.2622 0.2905 0.3006 0.42 0.16 0.29 0.25 0.3542 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290142 1.290142 NA 0.422209 0.29301 NA 0.362 NA 7.4558576 906 8 19221700 19221700 G A exonic SH2D4A NA nonsynonymous SNV SH2D4A:NM_001174160:exon6:c.G689A:p.S230N,SH2D4A:NM_001174159:exon7:c.G824A:p.S275N,SH2D4A:NM_022071:exon7:c.G824A:p.S275N exonic ENSG00000104611 NA nonsynonymous SNV ENSG00000104611:ENST00000518040:exon6:c.G689A:p.S230N,ENSG00000104611:ENST00000265807:exon7:c.G824A:p.S275N,ENSG00000104611:ENST00000519207:exon7:c.G824A:p.S275N NA NA 8p21.3 NA NA NA NA rs34608771 0.18 0.18 0.164 0.177915 0.3072 0.0595 0.2378 0.0946 0.2372 0.31 0.06 0.26 0.08 0.2605 0.31 0.58 T 0.003 B 0.003 B 0.358 N 1.000 P 0.845 L 2.62 T -1.077 T 0.000 T 0.036 1.596 11.29 3.94 0.754 0.087 7.930 1.596322 1.596322 0.67 0.310349 0.126192 NA 0.123 NA 7.4552844 906 19 37038416 37038416 T C exonic ZNF529 NA synonymous SNV ZNF529:NM_001145650:exon5:c.A990G:p.R330R,ZNF529:NM_020951:exon5:c.A1044G:p.R348R,ZNF529:NM_001145649:exon6:c.A1044G:p.R348R exonic ENSG00000186020 NA synonymous SNV ENSG00000186020:ENST00000590656:exon1:c.A15G:p.R5R,ENSG00000186020:ENST00000591340:exon5:c.A1044G:p.R348R,ENSG00000186020:ENST00000334116:exon6:c.A729G:p.R243R NA NA 19q13.12 NA Name=USF-1,ZNF274,SETDB1,KAP1,ETS1 Name=56 NA rs10424565 0.1 0.1 0.098 0.0814696 0.0606 0.0585 0.0576 0.1596 0.0378 0.06 0.07 0.06 0.22 0.0719 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595973 NA NA 0.079101 0.121399 NA 0.08 NA 7.4550656 907 19 52519608 52519608 C T exonic ZNF614 NA nonsynonymous SNV ZNF614:NM_025040:exon5:c.G1243A:p.V415I exonic ENSG00000142556 NA nonsynonymous SNV ENSG00000142556:ENST00000270649:exon5:c.G1243A:p.V415I NA NA 19q13.41 NA NA NA NA rs8104890 0.34 0.34 0.335 0.403355 0.2773 0.4038 0.3444 0.3797 0.6063 0.29 0.36 0.33 0.4 0.3349 0.4 1 T 0.004 B 0.002 B . . 1.000 P 0.41 N 3.18 T -0.923 T 0.000 T 0.01 -1.095 0.148 -0.11 -0.247 -1.520 4.080 -1.094924 NA 1 0.266395 0.380163 NA 0.283 NA 7.4547384 907 8 99205612 99205612 C T splicing NIPAL2 NM_024759:exon12:c.1067+1G>A NA NA splicing ENSG00000104361 ENST00000341166:exon12:c.1067+1G>A NA NA NA NA 8q22.2 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) NA NA rs3735887 0.56 0.56 0.542 0.582668 0.5 0.5893 0.6427 0.5461 0.6677 0.51 0.6 0.63 0.55 0.5364 0.63 . . . . . . . . 0.997 P . . . . . . . . . 1.352 10.44 3.65 0.402 1.145 6.783 1.351666 1.351666 NA 0.509186 0.519519 NA 0.543 NA 7.454414 907 19 22153495 22153495 A T UTR3 ZNF208 NM_007153:c.*498T>A NA NA intronic ENSG00000160321 NA NA NA Score=422;Name=lod=69 NA 19p12 NA Name=ZNF274 NA NA rs2359812 0.65 0.65 0.672 0.599641 0.5726 0.6925 0.6441 0.7209 0.3364 0.59 0.71 0.59 0.73 0.5669 0.73 0 D 0.0 B 0.0 B . . 0.000 P . . . . -1.005 T 0.000 T . 1.352 10.44 1.74 -0.177 0.959 5.726 1.35193 1.35193 0.06 0.573297 0.728074 NA 0.696 NA 7.4538697 907 16 56601722 56601722 T C exonic MT4 NA nonsynonymous SNV MT4:NM_032935:exon2:c.T91C:p.W31R exonic ENSG00000102891 NA nonsynonymous SNV ENSG00000102891:ENST00000219162:exon2:c.T91C:p.W31R Score=525;Name=lod=182 NA 16q12.2 NA NA NA NA rs666647 0.87 0.87 0.832 0.866014 0.9662 0.7192 0.9524 0.7859 0.9611 0.96 0.73 0.97 0.8 0.9375 0.98 0.49 T 0.0 B 0.0 B 0.000 N 1.000 P . . 3.23 T -0.951 T 0.000 T 0.219 0.181 4.974 4.72 1.449 0.095 6.802 0.180928 NA 1 0.975889 0.836224 NA 0.007 NA 7.4537444 907 5 179036433 179036433 G A exonic RUFY1 NA synonymous SNV RUFY1:NM_001040451:exon17:c.G1716A:p.L572L,RUFY1:NM_001040452:exon18:c.G1716A:p.L572L,RUFY1:NM_025158:exon18:c.G2040A:p.L680L exonic ENSG00000176783 NA synonymous SNV ENSG00000176783:ENST00000437570:exon17:c.G1716A:p.L572L,ENSG00000176783:ENST00000319449:exon18:c.G2040A:p.L680L,ENSG00000176783:ENST00000393438:exon18:c.G1716A:p.L572L Score=608;Name=lod=393 NA 5q35.3 NA Name=Pol2(phosphoS2),Pol2,Pol2-4H8,ZNF263 Name=61 NA rs17355294 0.32 0.32 0.331 0.271765 0.4284 0.1706 0.3084 0.2912 0.1626 0.44 0.17 0.34 0.3 0.347 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241659 1.241659 NA 0.438256 0.329097 NA 0.391 NA 7.4530106 907 1 176992676 176992676 C T exonic ASTN1 NA synonymous SNV ASTN1:NM_004319:exon7:c.G1302A:p.Q434Q,ASTN1:NM_207108:exon7:c.G1302A:p.Q434Q exonic ENSG00000152092 NA synonymous SNV ENSG00000152092:ENST00000361833:exon7:c.G1302A:p.Q434Q,ENSG00000152092:ENST00000367654:exon7:c.G1302A:p.Q434Q,ENSG00000152092:ENST00000367657:exon7:c.G1302A:p.Q434Q,ENSG00000152092:ENST00000424564:exon7:c.G1302A:p.Q434Q Score=730;Name=lod=1230 NA 1q25.2 Score=811;Name=V$MYOGNF1_01 NA NA Score=72;Name=167798_0_-_72 rs10798496 0.25 0.25 0.253 0.237021 0.4364 0.003 0.2248 0.264 0.2454 0.43 0.0035 0.25 0.24 0.35 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.960668 NA NA 0.42814 0.275079 NA 0.435 NA 7.4521266 907 17 5042422 5042422 G A intronic USP6 NA NA NA exonic ENSG00000129204 NA nonsynonymous SNV ENSG00000129204:ENST00000304328:exon14:c.G73A:p.V25I NA NA 17p13.2 NA NA NA NA rs4080179 0.36 0.36 0.353 0.418131 0.2237 0.6032 0.2997 0.3101 0.6575 0.23 0.62 0.29 0.31 0.3069 0.62 0 D 0.0 B 0.0 B . . 1.000 P . . 2.56 T -0.865 T 0.000 T 0.011 -2.007 0.007 -0.093 -3.493 -3.546 . -2.006631 NA 0.32 0.186841 0.292808 NA 0.275 NA 7.4492257 907 X 229542 229542 G A exonic GTPBP6 NA unknown UNKNOWN exonic ENSG00000178605 NA synonymous SNV ENSG00000178605:ENST00000326153:exon2:c.C120T:p.A40A Score=461;Name=lod=100 NA Xp22.33 NA NA NA NA rs1140798 0.47 0.47 0.4539 NA NA NA NA NA NA 0.41 0.56 0.53 0.39 0.4731 0.56 . . . . . . . . . . . . . . . . . . . -1.39 0.024 -2.74 -0.428 -0.354 0.233 -1.389844 NA NA 0.411687 0.410005 NA 0.42 NA 7.4485463 907 16 88874632 88874632 C G exonic CDT1 NA synonymous SNV CDT1:NM_030928:exon10:c.C1587G:p.L529L exonic ENSG00000167513 NA synonymous SNV ENSG00000167513:ENST00000301019:exon10:c.C1587G:p.L529L NA NA 16q24.3 NA Name=Pol2,Pol2-4H8 Name=7 NA rs572275 0.56 0.56 0.573 0.552716 0.3767 0.6637 0.4942 0.7489 0.3957 0.37 0.71 0.46 0.73 0.4737 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36415 NA NA 0.368776 0.707952 NA 0.522 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116645.2;CLNDSDB=.;CLNDSDBID=. 7.4474906 907 10 5541230 5541230 T C exonic CALML5 NA nonsynonymous SNV CALML5:NM_017422:exon1:c.A172G:p.S58G exonic ENSG00000178372 NA nonsynonymous SNV ENSG00000178372:ENST00000380332:exon1:c.A172G:p.S58G NA NA 10p15.1 NA NA NA NA rs11546426 0.29 0.29 0.307 0.296925 0.2972 0.2014 0.2133 0.4493 0.2485 0.29 0.2 0.23 0.44 0.2852 0.44 0 D 0.007 B 0.008 B 0.828 N 1.000 P 0.945 L -0.66 T -0.990 T 0.000 T 0.021 2.51 14.35 0.628 -0.000 0.567 3.708 2.509974 2.509974 0.02 0.303488 0.409442 NA 0.406 NA 7.4474454 907 16 20476852 20476852 T C exonic ACSM2A NA nonsynonymous SNV ACSM2A:NM_001010845:exon4:c.T191C:p.L64P exonic ENSG00000183747 NA nonsynonymous SNV ENSG00000183747:ENST00000396104:exon2:c.T191C:p.L64P,ENSG00000183747:ENST00000424070:exon3:c.T191C:p.L64P,ENSG00000183747:ENST00000573854:exon3:c.T191C:p.L64P,ENSG00000183747:ENST00000574692:exon3:c.T191C:p.L64P,ENSG00000183747:ENST00000219054:exon4:c.T191C:p.L64P,ENSG00000183747:ENST00000571894:exon4:c.T191C:p.L64P,ENSG00000183747:ENST00000575690:exon4:c.T191C:p.L64P,ENSG00000183747:ENST00000576361:exon4:c.T191C:p.L64P NA NA 16p12.3 Score=777;Name=V$AHRARNT_02 NA NA NA rs7187246 0.48 0.48 0.452 0.505591 0.2654 0.753 0.268 0.6445 0.4785 0.27 0.74 0.28 0.64 0.3401 0.74 1 T 0.0 B 0.0 B 0.999 N 1.000 P -0.895 N 1.47 T -0.947 T 0.000 T 0.427 -1.672 0.012 -1.24 -0.478 -0.100 1.706 -1.672461 NA 0.26 0.280698 0.593509 NA 0.37 NA 7.4471354 907 2 132269281 132269281 T A ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA Score=621;Name=lod=447 NA 2q21.1 NA Name=CTCF Name=41 NA rs12691991 0.34 0.34 0.266 0.334864 0.2197 0.6806 0.4265 0.1346 0.3027 0.21 0.66 0.38 0.13 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952622 NA NA NA NA NA 0.275 NA 7.4469666 907 4 26719569 26719569 T C exonic TBC1D19 NA synonymous SNV TBC1D19:NM_018317:exon14:c.T969C:p.F323F exonic ENSG00000109680 NA synonymous SNV ENSG00000109680:ENST00000511789:exon11:c.T774C:p.F258F,ENSG00000109680:ENST00000264866:exon14:c.T969C:p.F323F Score=576;Name=lod=293 NA 4p15.2 Score=856;Name=V$E2F_03 NA NA NA rs34600164 0.03 0.03 0.031 0.0469249 0.0785 0.0149 0.0331 0.0038 0.1155 0.08 0.01 0.03 0.002 0.0658 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952767 NA NA 0.075581 0.013391 NA 0.087 NA 7.4467856 908 4 175443156 175443156 C T exonic HPGD NA synonymous SNV HPGD:NM_000860:exon2:c.G156A:p.Q52Q,HPGD:NM_001145816:exon2:c.G156A:p.Q52Q,HPGD:NM_001256305:exon2:c.G156A:p.Q52Q,HPGD:NM_001256306:exon2:c.G156A:p.Q52Q exonic ENSG00000164120 NA synonymous SNV ENSG00000164120:ENST00000296521:exon2:c.G156A:p.Q52Q,ENSG00000164120:ENST00000296522:exon2:c.G156A:p.Q52Q,ENSG00000164120:ENST00000422112:exon2:c.G156A:p.Q52Q,ENSG00000164120:ENST00000504433:exon2:c.G156A:p.Q52Q,ENSG00000164120:ENST00000508330:exon2:c.G156A:p.Q52Q,ENSG00000164120:ENST00000542498:exon2:c.G156A:p.Q52Q Score=475;Name=lod=114 NA 4q34.1 NA Name=CTCF Name=35 NA rs1050145 0.38 0.38 0.337 0.339257 0.4066 0.4554 0.3213 0.261 0.2689 0.42 0.45 0.35 0.26 0.3862 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409455 NA NA 0.42907 0.271448 ID=COSM1131179;OCCURENCE=1(prostate) 0.261 NA 7.4447966 908 6 31324104 31324104 G A exonic HLA-B NA synonymous SNV HLA-B:NM_005514:exon3:c.C459T:p.D153D exonic ENSG00000234745 NA synonymous SNV ENSG00000234745:ENST00000434333:exon2:c.C492T:p.D164D,ENSG00000234745:ENST00000412585:exon3:c.C459T:p.D153D NA NA 6p21.33 NA Name=Pol2-4H8 Name=6 NA rs17839985 0.18 0.18 0.092 NA NA NA NA NA NA 0.17 0.21 0.17 0.17 0.2219 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470462 NA NA NA NA NA NA NA 7.4447666 908 20 8717713 8717713 G A exonic PLCB1 NA synonymous SNV PLCB1:NM_015192:exon20:c.G2082A:p.G694G,PLCB1:NM_182734:exon20:c.G2082A:p.G694G exonic ENSG00000182621 NA synonymous SNV ENSG00000182621:ENST00000439627:exon1:c.G39A:p.G13G,ENSG00000182621:ENST00000338037:exon20:c.G2082A:p.G694G,ENSG00000182621:ENST00000378637:exon20:c.G2082A:p.G694G,ENSG00000182621:ENST00000378641:exon20:c.G2082A:p.G694G Score=361;Name=lod=39 NA 20p12.3 NA NA NA NA rs3761170 0.08 0.08 0.066 0.0992412 0.0765 0.1349 0.0821 0.0371 0.182 0.06 0.11 0.12 0.02 0.0796 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178369 NA NA 0.067209 0.03813 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117923.2;CLNDSDB=.;CLNDSDBID=. 7.4433576 908 12 95502303 95502303 G A exonic FGD6 NA synonymous SNV FGD6:NM_018351:exon10:c.C3168T:p.H1056H exonic ENSG00000180263 NA synonymous SNV ENSG00000180263:ENST00000551521:exon3:c.C156T:p.H52H,ENSG00000180263:ENST00000343958:exon10:c.C3168T:p.H1056H,ENSG00000180263:ENST00000546711:exon10:c.C3168T:p.H1056H,ENSG00000180263:ENST00000549499:exon10:c.C3168T:p.H1056H Score=611;Name=lod=407 NA 12q22 Score=802;Name=V$OCT_C NA NA NA rs11107896 0.11 0.11 0.109 0.104633 0.0577 0.1488 0.1484 0.0862 0.1012 0.06 0.18 0.16 0.09 0.0929 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197553 NA NA 0.073605 0.077848 NA 0.065 NA 7.4424616 908 11 1780867 1780867 G A exonic CTSD NA synonymous SNV CTSD:NM_001909:exon3:c.C231T:p.A77A exonic ENSG00000117984 NA synonymous SNV ENSG00000117984:ENST00000438213:exon2:c.C186T:p.A62A,ENSG00000117984:ENST00000236671:exon3:c.C231T:p.A77A,ENSG00000117984:ENST00000367196:exon3:c.C126T:p.A42A,ENSG00000117984:ENST00000433655:exon3:c.C231T:p.A77A Score=462;Name=lod=101 NA 11p15.5 NA NA NA NA rs2230067 0.05 0.05 0.052 0.0553115 0.0736 0.0367 0.0533 0.0204 0.1043 0.08 0.03 0.07 0.03 0.0713 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.55672 1.55672 NA 0.080833 0.031804 NA 0.043 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116855.2|RCV000124637.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.4409336 908 14 57052511 57052511 G T exonic TMEM260 NA synonymous SNV TMEM260:NM_017799:exon3:c.G225T:p.T75T exonic ENSG00000070269 NA synonymous SNV ENSG00000070269:ENST00000261556:exon3:c.G225T:p.T75T,ENSG00000070269:ENST00000538838:exon3:c.G225T:p.T75T,ENSG00000070269:ENST00000539559:exon3:c.G225T:p.T75T,ENSG00000070269:ENST00000555497:exon3:c.G225T:p.T75T,ENSG00000070269:ENST00000556810:exon4:c.G114T:p.T38T Score=557;Name=lod=245 NA 14q22.3 NA Name=CTCF Name=33 NA rs3737171 0.37 0.37 0.335 0.323283 0.4254 0.4732 0.5346 0.0227 0.32 0.42 0.51 0.52 0.03 0.3911 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400485 NA NA 0.410116 0.088516 NA 0.268 NA 7.4400506 908 10 82363405 82363405 C T exonic SH2D4B NA synonymous SNV SH2D4B:NM_001145719:exon5:c.C567T:p.H189H,SH2D4B:NM_207372:exon5:c.C714T:p.H238H exonic ENSG00000178217 NA synonymous SNV ENSG00000178217:ENST00000313455:exon5:c.C567T:p.H189H,ENSG00000178217:ENST00000339284:exon5:c.C714T:p.H238H,ENSG00000178217:ENST00000470604:exon5:c.C711T:p.H237H Score=513;Name=lod=162 NA 10q23.1 Score=787;Name=V$PAX5_01 NA NA NA rs1913762 0.06 0.06 0.035 0.0660942 0.0706 0.0645 0.1614 0.0045 0.0787 0.07 0.05 0.11 0.01 0.0806 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.554544 1.554544 NA 0.075867 0.015924 NA 0.029 NA 7.4395996 908 14 39650824 39650824 C T exonic PNN NA synonymous SNV PNN:NM_002687:exon9:c.C1911T:p.G637G exonic ENSG00000100941 NA synonymous SNV ENSG00000100941:ENST00000216832:exon9:c.C1911T:p.G637G Score=733;Name=lod=1267 NA 14q21.1 NA Name=Pol2,Pol2-4H8,Pol2(b) NA NA rs1050136 0.12 0.12 0.118 0.0984425 0.0706 0.3145 0.0461 0.003 0.0706 0.07 0.34 0.05 0.0041 0.0813 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31773 NA NA 0.077674 0.017476 NA 0.036 NA 7.4370926 908 2 10050960 10050960 A G exonic TAF1B NA nonsynonymous SNV TAF1B:NM_005680:exon10:c.A1051G:p.T351A exonic ENSG00000115750 NA nonsynonymous SNV ENSG00000115750:ENST00000263663:exon10:c.A1051G:p.T351A,ENSG00000115750:ENST00000396242:exon10:c.A286G:p.T96A NA NA 2p25.1 NA NA NA NA rs1054565 0.48 0.48 0.458 0.43131 0.6551 0.4514 0.536 0.1301 0.5133 0.64 0.48 0.57 0.15 0.5743 0.67 . . 0.024 B 0.005 B 0.026 N 1.000 P 0.92 L 3.96 T -1.073 T 0.000 T 0.026 1.354 10.45 2.11 0.128 1.277 5.882 1.354141 1.354141 0.74 0.667907 0.210622 NA 0.536 NA 7.4360264 909 8 22926313 22926313 G A exonic TNFRSF10B NA nonsynonymous SNV TNFRSF10B:NM_003842:exon1:c.C95T:p.P32L,TNFRSF10B:NM_147187:exon1:c.C95T:p.P32L exonic ENSG00000120889 NA nonsynonymous SNV ENSG00000120889:ENST00000276431:exon1:c.C95T:p.P32L,ENSG00000120889:ENST00000347739:exon1:c.C95T:p.P32L,ENSG00000120889:ENST00000523504:exon1:c.C95T:p.P32L NA NA 8p21.3 NA Name=GR,Pol2 Name=81 NA rs1129424 0.74 0.74 0.696 0.749401 0.5924 0.9107 0.7493 0.7753 0.7096 0.59 0.91 0.74 0.78 0.7015 0.91 0.82 T 0.0 B 0.0 B 0.258 N 1.000 P -1.65 N -1.44 T -0.996 T 0.000 T 0.025 -1.358 0.028 0.126 -0.291 -0.111 4.248 -1.358005 NA 1 0.604858 0.748976 NA 0.565 NA 7.4345754 909 1 180240510 180240510 T C ncRNA_exonic LOC100527964 NA NA NA ncRNA_exonic ENSG00000230124 NA NA NA Score=452;Name=lod=92 NA 1q25.2 NA Name=E2F6_(H-50),TAL1_(SC-12984),GABP,YY1,Egr-1,HDAC2_(SC-6296),Pol2-4H8,eGFP-JunD,FOSL1_(SC-183),eGFP-FOS,USF-1 Name=79 NA rs2764449 0.04 0.04 0.035 0.0413339 0.0855 0.0139 0.0375 0.0038 0.0777 0.09 0.02 0.04 0.0041 0.0665 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.96237 1.96237 NA 0.080349 0.017476 NA 0.029 NA 7.4343176 909 12 6450945 6450945 T C exonic TNFRSF1A NA synonymous SNV TNFRSF1A:NM_001065:exon1:c.A36G:p.P12P exonic ENSG00000067182 NA synonymous SNV ENSG00000067182:ENST00000162749:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000366159:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000440083:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000534885:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000536194:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000539372:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000540022:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000543048:exon1:c.A36G:p.P12P,ENSG00000067182:ENST00000543995:exon1:c.A36G:p.P12P Score=487;Name=lod=127 NA 12p13.31 NA Name=EBF1_(C-8),Pol2,YY1_(C-20),HMGN3,NFKB Name=146 NA rs767455 0.33 0.33 0.349 0.301518 0.4294 0.122 0.3012 0.3631 0.272 0.43 0.14 0.36 0.36 0.3755 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210368 NA NA 0.427558 0.358375 ID=COSM431654;OCCURENCE=1(breast) 0.29 NA 7.4342086 909 5 140801298 140801298 C A exonic PCDHGA11 NA synonymous SNV PCDHGA11:NM_018914:exon1:c.C504A:p.L168L,PCDHGA11:NM_032091:exon1:c.C504A:p.L168L,PCDHGA11:NM_032092:exon1:c.C504A:p.L168L exonic ENSG00000253873 NA synonymous SNV ENSG00000253873:ENST00000398587:exon1:c.C504A:p.L168L,ENSG00000253873:ENST00000518882:exon1:c.C504A:p.L168L Score=448;Name=lod=88 NA 5q31.3 Score=859;Name=V$P300_01 NA NA NA rs73792198 0.12 0.12 0.118 0.127995 0.0586 0.1181 0.1513 0.1762 0.1278 0.07 0.12 0.13 0.18 0.0996 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331051 NA NA 0.074266 0.170191 NA 0.116 NA 7.4342006 909 8 21833965 21833965 C T exonic XPO7 NA synonymous SNV XPO7:NM_015024:exon7:c.C696T:p.I232I exonic ENSG00000130227 NA synonymous SNV ENSG00000130227:ENST00000252512:exon7:c.C696T:p.I232I,ENSG00000130227:ENST00000433566:exon7:c.C699T:p.I233I,ENSG00000130227:ENST00000434536:exon7:c.C723T:p.I241I Score=675;Name=lod=736 NA 8p21.3 Score=735;Name=V$PPARG_01 NA Name=6 NA rs2306641 0.35 0.35 0.348 0.294129 0.4563 0.4008 0.2104 0.2186 0.1789 0.46 0.38 0.24 0.23 0.357 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993887 NA NA 0.419626 0.269668 NA 0.442 NA 7.4337406 909 12 6128443 6128443 T C exonic VWF NA nonsynonymous SNV VWF:NM_000552:exon28:c.A4141G:p.T1381A exonic ENSG00000110799 NA nonsynonymous SNV ENSG00000110799:ENST00000261405:exon28:c.A4141G:p.T1381A NA NA 12p13.31 NA NA NA NA rs216311 0.73 0.73 0.688 0.775559 0.6014 0.746 0.7752 0.9228 0.7863 0.59 0.73 0.75 0.94 0.6798 0.94 1 T 0.0 B 0.001 B 0.739 N 1.000 P -1.585 N -1.57 D -0.970 T 0.000 T 0.06 -2.011 0.007 0.201 -0.389 1.834 9.533 -2.011176 NA 1 0.619884 0.881979 NA 0.717 NA 7.4322494 909 5 137665323 137665323 G A exonic CDC25C NA nonsynonymous SNV CDC25C:NM_001790:exon3:c.C208T:p.R70C exonic ENSG00000158402 NA nonsynonymous SNV ENSG00000158402:ENST00000514555:exon2:c.C208T:p.R70C,ENSG00000158402:ENST00000323760:exon3:c.C208T:p.R70C,ENSG00000158402:ENST00000356505:exon3:c.C208T:p.R70C,ENSG00000158402:ENST00000503022:exon3:c.C208T:p.R70C,ENSG00000158402:ENST00000510119:exon3:c.C259T:p.R87C,ENSG00000158402:ENST00000513970:exon3:c.C208T:p.R70C Score=482;Name=lod=121 NA 5q31.2 NA NA NA NA rs3734166 0.41 0.41 0.399 0.390176 0.3072 0.6101 0.2983 0.4773 0.1963 0.3 0.58 0.27 0.47 0.3176 0.58 0.19 T 0.009 B 0.002 B 0.138 N 0.000 P -0.235 N 1.64 T -0.944 T 0.000 T 0.24 1.974 12.56 -0.963 -0.138 -0.842 7.809 1.973598 1.973598 0.07 0.277674 0.445756 NA 0.348 NA 7.4308594 909 17 16527795 16527795 C A exonic ZNF624 NA nonsynonymous SNV ZNF624:NM_020787:exon6:c.G405T:p.K135N exonic ENSG00000197566 NA nonsynonymous SNV ENSG00000197566:ENST00000311331:exon6:c.G405T:p.K135N NA NA 17p11.2 NA NA NA NA rs8065506 0.43 0.43 0.42 0.487819 0.2674 0.5347 0.3847 0.6906 0.4652 0.25 0.53 0.35 0.65 0.3637 0.65 0.51 T 0.0 B 0.0 B . . 1.000 P 0.49 N 3.45 T -1.063 T 0.000 T 0.006 -1.222 0.062 2.92 0.537 0.419 7.381 -1.222243 NA NA 0.271395 0.644803 NA 0.399 NA 7.4308384 909 10 30728250 30728250 A G intronic MAP3K8 NA NA NA exonic ENSG00000107968 NA nonsynonymous SNV ENSG00000107968:ENST00000375322:exon3:c.A383G:p.Y128C NA NA 10p11.23 NA NA NA NA rs2907 0.44 0.44 0.4 0.363818 0.6044 0.3492 0.5245 0.1362 0.3252 0.61 0.39 0.51 0.17 0.5305 0.61 . . . . . . . . 1.000 P . . . . -0.941 T 0.000 T 0.167 1.28 10.18 -7.09 -1.672 -1.495 2.282 1.280373 1.280373 0.17 0.601535 0.196502 NA 0.362 NA 7.4302317 909 16 68225515 68225515 G A exonic NFATC3 NA synonymous SNV NFATC3:NM_004555:exon9:c.G2943A:p.T981T,NFATC3:NM_173163:exon9:c.G2943A:p.T981T,NFATC3:NM_173165:exon9:c.G2943A:p.T981T exonic ENSG00000072736 NA synonymous SNV ENSG00000072736:ENST00000329524:exon9:c.G2943A:p.T981T,ENSG00000072736:ENST00000346183:exon9:c.G2943A:p.T981T,ENSG00000072736:ENST00000349223:exon9:c.G2943A:p.T981T,ENSG00000072736:ENST00000575270:exon9:c.G2943A:p.T981T Score=689;Name=lod=843 NA 16q22.1 Score=746;Name=V$PPARA_01 NA NA NA rs12598 0.03 0.03 0.036 0.0345447 0.0825 NA 0.0187 0.0038 0.0736 0.09 NA 0.01 NA 0.0635 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.383584 NA NA 0.090698 0.017061 NA 0.029 NA 7.4299686 909 18 44560300 44560300 C T exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G1336A:p.A446T exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G1336A:p.A446T NA NA 18q21.1 NA NA NA NA rs3744863 0.51 0.51 0.51 0.534145 0.4433 0.6448 0.6239 0.4349 0.5838 0.44 0.63 0.58 0.43 0.506 0.63 0.36 T 0.999 D 0.895 P 0.262 N 1.000 P 1.24 L 3.16 T -0.975 T 0.000 T 0.055 2.199 13.31 -0.047 -0.022 0.052 4.076 2.198727 2.198727 0.08 0.454969 0.443032 NA 0.413 NA 7.4290644 909 11 59225221 59225221 T C exonic OR4D6 NA nonsynonymous SNV OR4D6:NM_001004708:exon1:c.T788C:p.M263T exonic ENSG00000166884 NA nonsynonymous SNV ENSG00000166884:ENST00000300127:exon1:c.T788C:p.M263T NA NA 11q12.1 NA NA NA NA rs1453541 0.29 0.29 0.272 0.265375 0.2972 0.1845 0.2695 0.3245 0.2331 0.31 0.21 0.3 0.32 0.2912 0.33 1 T 0.0 B 0.0 B 0.608 N 1.000 P -2.37 N 8.8 T -0.972 T 0.000 T 0.007 -3.143 0.001 -2.74 -0.898 -0.221 4.660 -3.14294 NA 1 0.315949 0.333712 NA 0.203 NA 7.4289844 909 2 228131752 228131752 G A exonic COL4A3 NA synonymous SNV COL4A3:NM_000091:exon23:c.G1452A:p.G484G exonic ENSG00000169031 NA synonymous SNV ENSG00000169031:ENST00000396578:exon23:c.G1452A:p.G484G NA NA 2q36.3 Score=703;Name=V$LUN1_01 Name=FOXA1_(SC-101058),GR,FOXA1_(C-20) NA NA rs34019152 0.1 0.1 0.078 0.105232 0.0686 0.1577 0.1787 0.0454 0.1176 0.06 0.15 0.16 0.04 0.0923 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.244729 NA NA 0.077599 0.047185 NA 0.051 NA 7.4281676 909 11 4510285 4510285 A G exonic OR52K1 NA nonsynonymous SNV OR52K1:NM_001005171:exon1:c.A155G:p.Q52R exonic ENSG00000196778 NA nonsynonymous SNV ENSG00000196778:ENST00000307632:exon1:c.A155G:p.Q52R NA NA 11p15.4 NA NA NA NA rs96489 0.35 0.35 0.354 0.383986 0.2952 0.3194 0.2161 0.5477 0.4397 0.27 0.35 0.27 0.55 0.3153 0.55 0.9 T 0.0 B 0.0 B 0.667 N 1.000 P -0.95 N 4.1 T -0.970 T 0.000 T 0.013 -3.198 0.001 -1.92 -0.754 -6.840 7.262 -3.197733 NA 0.76 0.295952 0.504316 ID=COSM147107;OCCURENCE=1(stomach) 0.319 NA 7.4268814 909 1 161145005 161145005 C T exonic B4GALT3 NA synonymous SNV B4GALT3:NM_001199873:exon4:c.G267A:p.S89S,B4GALT3:NM_001199874:exon4:c.G267A:p.S89S,B4GALT3:NM_003779:exon4:c.G267A:p.S89S exonic ENSG00000158850 NA synonymous SNV ENSG00000158850:ENST00000319769:exon4:c.G267A:p.S89S,ENSG00000158850:ENST00000367998:exon4:c.G267A:p.S89S Score=445;Name=lod=86 NA 1q23.3 Score=736;Name=V$PPARA_01 NA NA NA rs3813620 0.07 0.07 0.089 0.0910543 0.0736 0.0675 0.0663 0.1044 0.1329 0.07 0.06 0.06 0.1 0.0873 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925287 NA NA 0.07907 0.115751 NA 0.051 NA 7.4266966 909 11 59271637 59271637 T C exonic OR4D11 NA nonsynonymous SNV OR4D11:NM_001004706:exon1:c.T589C:p.F197L exonic ENSG00000176200 NA nonsynonymous SNV ENSG00000176200:ENST00000313253:exon1:c.T589C:p.F197L Score=391;Name=lod=52 NA 11q12.1 NA NA NA NA rs7120079 0.3 0.3 0.311 0.302516 0.3091 0.2758 0.2219 0.289 0.3988 0.3 0.26 0.25 0.36 0.2966 0.37 1 T 0.0 B 0.0 B 0.052 N 1.000 P -1.89 N 8.93 T -0.988 T 0.000 T 0.039 -1.882 0.008 1.12 -0.284 -0.412 5.447 -1.881657 NA 1 0.302095 0.278283 ID=COSM147254;OCCURENCE=1(stomach) 0.37 NA 7.4255384 910 11 290918 290918 G A exonic ATHL1 NA synonymous SNV ATHL1:NM_025092:exon4:c.G711A:p.Q237Q exonic ENSG00000142102 NA synonymous SNV ENSG00000142102:ENST00000409479:exon3:c.G711A:p.Q237Q,ENSG00000142102:ENST00000409548:exon4:c.G711A:p.Q237Q,ENSG00000142102:ENST00000409655:exon4:c.G180A:p.Q60Q Score=433;Name=lod=77 NA 11p15.5 Score=858;Name=V$AP4_01 NA NA NA rs72636978 0.16 0.16 0.135 0.180911 0.0586 0.3056 0.2219 0.1543 0.1851 0.06 0.31 0.18 0.13 0.1278 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439109 NA NA 0.055698 0.137767 NA 0.036 NA 7.4245686 910 18 13095609 13095609 T C exonic CEP192 NA nonsynonymous SNV CEP192:NM_032142:exon35:c.T6362C:p.L2121P exonic ENSG00000101639 NA nonsynonymous SNV ENSG00000101639:ENST00000430049:exon25:c.T4937C:p.L1646P,ENSG00000101639:ENST00000510237:exon26:c.T5162C:p.L1721P,ENSG00000101639:ENST00000325971:exon33:c.T4574C:p.L1525P,ENSG00000101639:ENST00000506447:exon35:c.T6362C:p.L2121P NA NA 18p11.21 NA NA NA NA rs474337 0.75 0.75 0.785 0.769968 0.6193 0.8105 0.6455 0.9486 0.7301 0.62 0.81 0.66 0.94 0.6697 0.94 0.29 T 0.003 B 0.003 B 0.013 N 0.983 P -0.345 N 1.59 T -1.032 T 0.000 T 0.07 1.512 11.01 3.43 0.506 1.599 8.775 1.512281 1.512281 NA 0.619767 0.882206 NA 0.674 NA 7.4245664 910 3 194062519 194062519 C T exonic CPN2 NA nonsynonymous SNV CPN2:NM_001080513:exon2:c.G913A:p.A305T exonic ENSG00000178772 NA nonsynonymous SNV ENSG00000178772:ENST00000323830:exon2:c.G913A:p.A305T,ENSG00000178772:ENST00000429275:exon2:c.G913A:p.A305T NA NA 3q29 NA NA NA NA rs3732477 0.37 0.37 0.38 0.366414 0.3131 0.3185 0.2752 0.4561 0.4141 0.34 0.36 0.34 0.43 0.3145 0.43 0.98 T 0.017 B 0.009 B 0.339 N 1.000 P 0.475 N 0.34 T -0.998 T 0.000 T 0.033 0.226 5.221 -10.6 -2.493 -0.271 13.970 0.226234 NA 0.04 0.282674 0.410123 NA 0.304 NA 7.4230594 910 10 99350017 99350017 G C exonic C10orf62 NA nonsynonymous SNV C10orf62:NM_001009997:exon1:c.G363C:p.E121D exonic ENSG00000203942 NA nonsynonymous SNV ENSG00000203942:ENST00000370640:exon1:c.G363C:p.E121D NA NA 10q24.2 Score=915;Name=V$USF_02 NA NA NA rs7093840 0.25 0.25 0.23 0.264976 0.3082 0.1369 0.2896 0.3124 0.271 0.3 0.12 0.25 0.34 0.2896 0.34 0.43 T 0.041 B 0.028 B 0.272 N 0.995 P 0.205 N 0.71 T -0.941 T 0.000 T 0.027 0.664 7.559 -0.32 -0.074 -0.377 4.671 0.664348 NA 0.53 0.313837 0.33409 NA 0.196 NA 7.4216964 910 6 74521947 74521947 C T exonic CD109 NA nonsynonymous SNV CD109:NM_001159588:exon28:c.C3491T:p.T1164M,CD109:NM_001159587:exon29:c.C3671T:p.T1224M,CD109:NM_133493:exon29:c.C3722T:p.T1241M exonic ENSG00000156535 NA nonsynonymous SNV ENSG00000156535:ENST00000422508:exon28:c.C3491T:p.T1164M,ENSG00000156535:ENST00000287097:exon29:c.C3722T:p.T1241M,ENSG00000156535:ENST00000437994:exon29:c.C3671T:p.T1224M NA NA 6q13 NA NA NA NA rs2917862 0.42 0.42 0.36 0.408347 0.4901 0.4583 0.4669 0.202 0.5102 0.51 0.46 0.44 0.23 0.45 0.51 0.13 T 0.81 P 0.253 B 0.736 N 1.000 P 1.59 L 2.02 T -1.031 T 0.025 T 0.052 0.016 4.096 -1.95 -0.333 -0.978 12.627 0.015803 NA 0.2 0.471628 0.258965 NA 0.457 NA 7.4216054 910 5 159520661 159520661 T C exonic PWWP2A NA synonymous SNV PWWP2A:NM_001130864:exon2:c.A996G:p.E332E,PWWP2A:NM_001267035:exon2:c.A996G:p.E332E,PWWP2A:NM_052927:exon2:c.A996G:p.E332E exonic ENSG00000170234 NA synonymous SNV ENSG00000170234:ENST00000307063:exon2:c.A996G:p.E332E,ENSG00000170234:ENST00000456329:exon2:c.A996G:p.E332E,ENSG00000170234:ENST00000523662:exon2:c.A996G:p.E332E Score=665;Name=lod=672 NA 5q33.3 NA Name=NFKB NA NA rs56251777 0.04 0.04 0.03 0.0303514 0.0845 0.001 0.0519 0.0083 0.0194 0.09 0.0017 0.06 0.01 0.0677 0.093 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326761 NA NA 0.093421 0.017534 NA 0.022 NA 7.4210456 910 9 114371322 114371322 T C ncRNA_exonic LRRC37A5P NA NA NA ncRNA_exonic ENSG00000204173 NA NA NA NA NA 9q31.3 NA NA NA NA rs4978450 NA NA NA 0.208267 0.1113 0.1617 0.0778 0.4032 0.1851 NA NA NA NA 0.1345 0.23 0 D . . . . . . 1.000 N . . . . -0.866 T 0.126 T . 0.161 4.866 0.957 0.007 -1.070 3.686 0.160935 NA 0.01 NA NA NA 0.196 NA 7.4208666 910 8 30242076 30242076 T C ncRNA_UTR5 RBPMS NA NA NA ncRNA_UTR5 ENSG00000157110 NA NA NA Score=378;Name=lod=46 NA 8p12 NA Name=TBP,HEY1,Pol2-4H8,ZNF263,Sin3Ak-20,Pol2,TAF1 Name=111 NA rs113142693 0.29 0.29 0.276 0.288339 0.2465 0.3304 0.2695 0.3578 0.2076 0.23 0.35 0.29 0.3 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.448804 2.448804 NA NA NA NA 0.029 NA 7.4201666 910 1 17575645 17575645 A C exonic PADI3 NA synonymous SNV PADI3:NM_016233:exon1:c.A13C:p.R5R exonic ENSG00000142619 NA synonymous SNV ENSG00000142619:ENST00000375460:exon1:c.A13C:p.R5R Score=329;Name=lod=29 NA 1p36.13 NA Name=TBP NA NA rs3763589 0.09 0.09 0.064 0.116014 0.0746 0.1538 0.1239 0.031 0.229 0.07 0.15 0.12 0.03 0.0954 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.848121 1.848121 NA 0.077674 0.035406 NA 0.065 NA 7.4189926 910 3 125266387 125266387 G A exonic OSBPL11 NA synonymous SNV OSBPL11:NM_022776:exon10:c.C1704T:p.P568P exonic ENSG00000144909 NA synonymous SNV ENSG00000144909:ENST00000296220:exon10:c.C1704T:p.P568P Score=662;Name=lod=656 NA 3q21.2 Score=904;Name=V$OCT1_02 NA NA NA rs35535572 0.05 0.05 0.037 0.043131 0.0716 0.0347 0.098 0.0076 0.0317 0.07 0.04 0.08 0.01 0.0761 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997275 NA NA 0.100814 0.02542 NA 0.036 NA 7.4181526 910 17 78078709 78078709 T C exonic GAA NA synonymous SNV GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C exonic ENSG00000171298 NA synonymous SNV ENSG00000171298:ENST00000302262:exon2:c.T324C:p.C108C,ENSG00000171298:ENST00000570803:exon2:c.T324C:p.C108C,ENSG00000171298:ENST00000390015:exon3:c.T324C:p.C108C,ENSG00000171298:ENST00000577106:exon3:c.T324C:p.C108C Score=436;Name=lod=79 NA 17q25.3 Score=845;Name=V$AP4_01 Name=ERalpha_a,ZNF263 NA NA rs1800300 0.69 0.69 0.714 0.714457 0.7634 0.6518 0.562 0.7186 0.8313 0.76 0.67 0.57 0.71 0.7367 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41148 NA NA 0.749011 0.697548 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078180.2;CLNDSDB=.;CLNDSDBID=. 7.4175556 910 19 48836673 48836673 G T exonic TMEM143 NA synonymous SNV TMEM143:NM_018273:exon8:c.C1183A:p.R395R exonic ENSG00000161558 NA synonymous SNV ENSG00000161558:ENST00000377431:exon6:c.C883A:p.R295R,ENSG00000161558:ENST00000541566:exon6:c.C853A:p.R285R,ENSG00000161558:ENST00000435956:exon7:c.C1078A:p.R360R,ENSG00000161558:ENST00000436660:exon7:c.C988A:p.R330R,ENSG00000161558:ENST00000293261:exon8:c.C1183A:p.R395R Score=343;Name=lod=33 NA 19q13.33 Score=856;Name=V$E47_01 Name=NFKB,ZEB1_(SC-25388),HEY1,Pol2-4H8,ELF1_(SC-631),Pol2 NA NA rs3826828 0.34 0.34 0.334 0.335463 0.4175 0.3482 0.3847 0.2595 0.3057 0.39 0.31 0.41 0.25 0.3908 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.34568 1.34568 NA 0.44093 0.290286 NA 0.413 NA 7.4174366 910 18 12984144 12984144 C A exonic SEH1L NA nonsynonymous SNV SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N exonic ENSG00000085415 NA nonsynonymous SNV ENSG00000085415:ENST00000262124:exon8:c.C1025A:p.T342N,ENSG00000085415:ENST00000399892:exon8:c.C1025A:p.T342N Score=689;Name=lod=842 NA 18p11.21 NA NA NA NA rs6505776 0.75 0.75 0.785 0.782149 0.6203 0.8105 0.6441 0.9788 0.7515 0.62 0.81 0.65 0.97 0.6769 0.97 0.69 T 0.0 B 0.0 B 0.007 N 1.000 P -1.1 N -0.29 T -0.992 T 0.000 T 0.021 -0.07 3.658 1.0 -0.279 1.686 7.079 -0.070133 NA NA 0.620726 0.921244 NA 0.645 NA 7.4154074 911 2 15607842 15607842 T C exonic NBAS NA nonsynonymous SNV NBAS:NM_015909:exon18:c.A1964G:p.K655R exonic ENSG00000151779 NA nonsynonymous SNV ENSG00000151779:ENST00000281513:exon18:c.A1964G:p.K655R,ENSG00000151779:ENST00000441750:exon18:c.A1964G:p.K655R NA NA 2p24.3 NA NA NA NA rs4668909 0.4 0.4 0.352 0.360623 0.6879 0.1617 0.5677 0.1135 0.4162 0.67 0.18 0.57 0.12 0.5505 0.68 0 D 0.0 B 0.002 B 0.000 N 1.000 P 0.6 N 3.02 T -0.985 T 0.000 T 0.025 1.486 10.91 -1.26 -0.370 1.492 12.019 1.485579 1.485579 0.11 0.680581 0.220481 NA 0.478 NA 7.4143524 911 17 7412403 7412403 T C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon21:c.T3606C:p.F1202F exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon21:c.T3606C:p.F1202F Score=615;Name=lod=421 NA 17p13.1 Score=830;Name=V$ATF_01 NA NA NA rs2228133 0.13 0.13 0.104 0.110423 0.0805 0.2183 0.1859 0.0431 0.0675 0.09 0.23 0.19 0.05 0.1016 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.310196 1.310196 NA 0.070349 0.061961 NA 0.036 NA 7.4142176 911 19 57967049 57967049 G T exonic VN1R1 NA nonsynonymous SNV VN1R1:NM_020633:exon1:c.C806A:p.A269D exonic ENSG00000178201,ENSG00000268163 NA nonsynonymous SNV ENSG00000178201:ENST00000321039:exon1:c.C806A:p.A269D,ENSG00000268163:ENST00000596831:exon5:c.C319A:p.P107T NA NA 19q13.43 NA NA NA NA rs61744949 0.4 0.4 0.391 0.413339 0.2783 0.5913 0.451 0.3109 0.4806 0.3 0.64 0.37 0.3 0.3567 0.64 0.05 D 0.13 B 0.123 B . . 1.000 P 0.705 N 3.0 T -1.016 T 0.000 T 0.091 1.243 10.04 -0.913 -0.140 0.517 4.083 1.242857 1.242857 0.74 0.285349 0.304585 NA 0.326 NA 7.4129844 911 11 82875359 82875359 G A exonic PCF11 NA synonymous SNV PCF11:NM_015885:exon4:c.G618A:p.Q206Q exonic ENSG00000165494 NA synonymous SNV ENSG00000165494:ENST00000298281:exon4:c.G618A:p.Q206Q,ENSG00000165494:ENST00000530304:exon4:c.G618A:p.Q206Q,ENSG00000165494:ENST00000530660:exon4:c.G618A:p.Q206Q Score=702;Name=lod=950 NA 11q14.1 Score=793;Name=V$CMYB_01 NA NA NA rs7130527 0.09 0.09 0.106 0.103634 0.0805 0.0496 0.0663 0.1641 0.1278 0.07 0.05 0.07 0.18 0.0878 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449653 NA NA 0.085777 0.147678 NA 0.116 NA 7.4125896 911 19 57967133 57967133 G A exonic VN1R1 NA nonsynonymous SNV VN1R1:NM_020633:exon1:c.C722T:p.S241F exonic ENSG00000178201 NA nonsynonymous SNV ENSG00000178201:ENST00000321039:exon1:c.C722T:p.S241F NA NA 19q13.43 NA NA NA NA rs28649880 0.4 0.4 0.391 0.413938 0.2793 0.5913 0.451 0.3124 0.4806 0.3 0.64 0.37 0.3 0.3569 0.64 0.76 T 0.855 P 0.55 P . . 1.000 P 1.53 L 3.1 T -0.999 T 0.000 T 0.281 1.767 11.87 0.384 0.461 -0.546 2.050 1.766615 1.766615 0.1 0.285233 0.305039 ID=COSM1179788;OCCURENCE=1(prostate) 0.326 NA 7.4119004 911 11 12903443 12903443 C T exonic TEAD1 NA synonymous SNV TEAD1:NM_021961:exon8:c.C513T:p.D171D exonic ENSG00000187079 NA synonymous SNV ENSG00000187079:ENST00000526600:exon3:c.C225T:p.D75D,ENSG00000187079:ENST00000361985:exon7:c.C513T:p.D171D,ENSG00000187079:ENST00000527575:exon7:c.C513T:p.D171D,ENSG00000187079:ENST00000334310:exon8:c.C480T:p.D160D,ENSG00000187079:ENST00000361905:exon8:c.C468T:p.D156D,ENSG00000187079:ENST00000527636:exon8:c.C513T:p.D171D Score=586;Name=lod=321 NA 11p15.2 Score=773;Name=V$TAXCREB_01 Name=GATA-2 NA NA rs2304733 0.49 0.49 0.484 0.433706 0.4195 0.8393 0.2925 0.2973 0.3149 0.42 0.83 0.29 0.35 0.4246 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.471361 1.471361 NA 0.411737 0.315909 NA 0.442 NA 7.4108296 911 2 160673526 160673526 A G exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon30:c.T4171C:p.Y1391H,LY75-CD302:NM_001198760:exon30:c.T4171C:p.Y1391H,LY75:NM_002349:exon30:c.T4171C:p.Y1391H exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon30:c.T4171C:p.Y1391H,ENSG00000248672:ENST00000504764:exon30:c.T4171C:p.Y1391H,ENSG00000248672:ENST00000505052:exon30:c.T4171C:p.Y1391H,ENSG00000054219:ENST00000553424:exon30:c.T4171C:p.Y1391H,ENSG00000054219:ENST00000554112:exon30:c.T4171C:p.Y1391H Score=457;Name=lod=96 NA 2q24.2 NA NA NA NA rs2059696 0.25 0.25 0.202 0.205671 0.327 0.2212 0.4827 0.0287 0.1074 0.33 0.21 0.43 0.03 0.2873 0.43 0.53 T 0.01 B 0.013 B 0.109 N 0.984 P 0.805 L 2.3 T -0.900 T 0.000 T 0.169 1.144 9.66 1.99 0.166 0.893 5.911 1.143804 NA 0.49 0.308372 0.069678 ID=COSM148967;OCCURENCE=1(stomach) 0.333 NA 7.4106614 911 12 132682484 132682484 A G exonic GALNT9 NA synonymous SNV GALNT9:NM_021808:exon6:c.T420C:p.D140D,GALNT9:NM_001122636:exon10:c.T1518C:p.D506D exonic ENSG00000182870 NA synonymous SNV ENSG00000182870:ENST00000541995:exon5:c.T420C:p.D140D,ENSG00000182870:ENST00000397325:exon6:c.T420C:p.D140D,ENSG00000182870:ENST00000535228:exon7:c.T771C:p.D257D,ENSG00000182870:ENST00000328957:exon10:c.T1518C:p.D506D NA NA 12q24.33 NA NA NA NA rs12306514 0.74 0.74 0.735 0.766374 0.7416 0.6776 0.768 0.8464 0.774 0.74 0.65 0.75 0.82 0.7563 0.85 . . . . . . . . 0.000 P . . . . -1.052 T 0.000 T . -1.194 0.075 -8.58 -3.761 -2.263 0.739 -1.19374 NA NA 0.758129 0.852417 NA 0.522 NA 7.4106376 911 12 132682481 132682481 T G exonic GALNT9 NA synonymous SNV GALNT9:NM_021808:exon6:c.A423C:p.G141G,GALNT9:NM_001122636:exon10:c.A1521C:p.G507G exonic ENSG00000182870 NA synonymous SNV ENSG00000182870:ENST00000541995:exon5:c.A423C:p.G141G,ENSG00000182870:ENST00000397325:exon6:c.A423C:p.G141G,ENSG00000182870:ENST00000535228:exon7:c.A774C:p.G258G,ENSG00000182870:ENST00000328957:exon10:c.A1521C:p.G507G Score=425;Name=lod=71 NA 12q24.33 Score=808;Name=V$HEN1_02 NA NA NA rs12308155 0.74 0.74 0.744 0.766374 0.7416 0.6776 0.768 0.8464 0.774 0.74 0.65 0.75 0.83 0.7566 0.85 . . . . . . . . 0.000 P . . . . -1.035 T 0.000 T . -0.597 1.331 -1.31 -0.397 -3.091 1.670 -0.596836 NA NA 0.758011 0.853024 NA 0.522 NA 7.4104556 911 16 30408765 30408765 C T exonic ZNF48 NA nonsynonymous SNV ZNF48:NM_152652:exon2:c.C194T:p.A65V,ZNF48:NM_001214906:exon3:c.C194T:p.A65V,ZNF48:NM_001214909:exon3:c.C194T:p.A65V exonic ENSG00000180035 NA nonsynonymous SNV ENSG00000180035:ENST00000320159:exon2:c.C194T:p.A65V,ENSG00000180035:ENST00000524644:exon3:c.C194T:p.A65V,ENSG00000180035:ENST00000528032:exon3:c.C194T:p.A65V NA NA 16p11.2 NA NA NA NA rs12921440 0.68 0.68 0.64 0.660942 0.6392 0.9127 0.7219 0.4077 0.7229 0.66 0.91 0.71 0.41 0.6523 0.91 0.04 D 0.0 B 0.0 B 0.925 N 1.000 P 0.55 N 3.52 T -1.056 T 0.000 T 0.414 1.441 10.76 -3.03 -0.282 . 1.120 1.440627 1.440627 0.18 0.63186 0.449477 NA 0.536 NA 7.4099734 911 11 65064690 65064690 G A exonic POLA2 NA nonsynonymous SNV POLA2:NM_002689:exon18:c.G1747A:p.G583R exonic ENSG00000014138 NA nonsynonymous SNV ENSG00000014138:ENST00000265465:exon18:c.G1747A:p.G583R NA NA 11q13.1 NA NA NA NA rs487989 0.12 0.12 0.103 0.15016 0.1382 0.0645 0.1326 0.1846 0.2168 0.13 0.08 0.15 0.15 0.1435 0.17 0.41 T 0.474 P 0.039 B 0.709 N 1.000 P 1.845 L 1.9 T -1.024 T 0.000 T 0.047 2.042 12.79 -0.784 0.040 0.736 1.044 2.042383 2.042383 0.34 0.141727 0.174693 NA 0.159 NA 7.4099064 911 11 124180477 124180477 G A exonic OR8D1 NA synonymous SNV OR8D1:NM_001002917:exon1:c.C186T:p.F62F exonic ENSG00000196341 NA synonymous SNV ENSG00000196341:ENST00000357821:exon1:c.C186T:p.F62F Score=417;Name=lod=66 NA 11q24.2 Score=890;Name=V$HNF3B_01 NA NA NA rs6590057 0.04 0.04 0.029 0.0253594 0.0815 NA 0.0375 0.0091 0.0072 0.09 NA 0.04 0.02 0.07 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439099 NA NA 0.105839 0.019991 NA 0.043 NA 7.4093276 911 19 57641146 57641146 A G exonic USP29 NA nonsynonymous SNV USP29:NM_020903:exon4:c.A1103G:p.N368S exonic ENSG00000131864 NA nonsynonymous SNV ENSG00000131864:ENST00000598197:exon1:c.A1103G:p.N368S,ENSG00000131864:ENST00000254181:exon4:c.A1103G:p.N368S NA NA 19q13.43 NA NA NA NA rs1027392 0.73 0.73 0.715 0.742013 0.6203 0.9276 0.7046 0.7398 0.7055 0.61 0.94 0.72 0.69 0.6783 0.94 0.35 T 0.916 P 0.497 P 0.029 N 1.000 P 0.74 N -0.78 T -0.946 T 0.000 T 0.007 -1.064 0.179 -0.648 -0.665 1.363 7.159 -1.064192 NA 0.38 0.627355 0.738084 NA 0.594 NA 7.4073784 911 2 206590686 206590686 T C exonic NRP2 NA synonymous SNV NRP2:NM_003872:exon6:c.T870C:p.N290N,NRP2:NM_018534:exon6:c.T870C:p.N290N,NRP2:NM_201264:exon6:c.T870C:p.N290N,NRP2:NM_201266:exon6:c.T870C:p.N290N,NRP2:NM_201267:exon6:c.T870C:p.N290N,NRP2:NM_201279:exon6:c.T870C:p.N290N exonic ENSG00000118257 NA synonymous SNV ENSG00000118257:ENST00000272849:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000355117:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000357118:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000357785:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000360409:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000412873:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000540178:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000540841:exon6:c.T870C:p.N290N,ENSG00000118257:ENST00000417189:exon7:c.T870C:p.N290N Score=346;Name=lod=34 NA 2q33.3 Score=824;Name=V$BRN2_01 NA NA NA rs2228639 0.05 0.05 0.047 0.0397364 0.0964 0.001 0.0461 0.0333 0.0256 0.09 0.0017 0.07 0.03 0.0679 0.096 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390264 1.390264 NA 0.09593 0.044712 NA 0.036 NA 7.4064366 911 7 157931144 157931144 C T exonic PTPRN2 NA nonsynonymous SNV PTPRN2:NM_130842:exon6:c.G923A:p.S308N,PTPRN2:NM_002847:exon7:c.G974A:p.S325N,PTPRN2:NM_130843:exon7:c.G974A:p.S325N exonic ENSG00000155093 NA nonsynonymous SNV ENSG00000155093:ENST00000389416:exon6:c.G923A:p.S308N,ENSG00000155093:ENST00000409483:exon6:c.G860A:p.S287N,ENSG00000155093:ENST00000389413:exon7:c.G974A:p.S325N,ENSG00000155093:ENST00000389418:exon7:c.G974A:p.S325N,ENSG00000155093:ENST00000404321:exon7:c.G1043A:p.S348N NA NA 7q36.3 NA NA NA NA rs1130499 0.41 0.41 0.382 0.3752 0.2903 0.4663 0.4395 0.4387 0.2372 0.3 0.53 0.37 0.48 0.3414 0.53 0.15 T 0.017 B 0.022 B . . 1.000 P 0.895 L 3.98 T -0.997 T 0.000 T 0.019 1.203 9.887 2.21 0.274 0.503 4.389 1.203049 NA 0.04 0.295349 0.439174 NA 0.428 NA 7.4062844 911 11 123894234 123894234 A G exonic OR10G9 NA nonsynonymous SNV OR10G9:NM_001001953:exon1:c.A515G:p.Q172R exonic ENSG00000236981 NA nonsynonymous SNV ENSG00000236981:ENST00000375024:exon1:c.A515G:p.Q172R NA NA 11q24.1 NA NA NA NA rs11219413 0.29 0.29 0.234 0.312899 0.2922 0.503 0.4553 0.1407 0.2699 0.25 0.44 0.37 0.13 0.3277 0.44 0.48 T 0.0 B 0.007 B 0.604 N 1.000 P 0.38 N 8.73 T -1.136 T 0.000 T 0.079 -1.106 0.137 -0.337 -0.180 -1.239 3.862 -1.106189 NA 0.24 0.307862 0.163789 ID=COSM147358;OCCURENCE=1(stomach) 0.304 NA 7.4055714 911 7 129479138 129479138 T C exonic UBE2H NA synonymous SNV UBE2H:NM_182697:exon4:c.A243G:p.L81L,UBE2H:NM_001202498:exon6:c.A126G:p.L42L,UBE2H:NM_003344:exon6:c.A336G:p.L112L exonic ENSG00000186591 NA synonymous SNV ENSG00000186591:ENST00000473814:exon4:c.A243G:p.L81L,ENSG00000186591:ENST00000355621:exon6:c.A336G:p.L112L,ENSG00000186591:ENST00000496698:exon6:c.A237G:p.L79L Score=703;Name=lod=961 NA 7q32.2 Score=774;Name=V$PAX6_01 NA NA NA rs12539800 0.06 0.06 0.05 0.0429313 0.1044 0.0397 0.0519 0.0106 0.0204 0.09 0.04 0.06 0.02 0.0647 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459166 1.459166 NA 0.092326 0.023831 NA 0.058 NA 7.4052406 912 14 23944505 23944505 G A exonic NGDN NA synonymous SNV NGDN:NM_001042635:exon4:c.G270A:p.V90V,NGDN:NM_015514:exon4:c.G270A:p.V90V exonic ENSG00000129460 NA synonymous SNV ENSG00000129460:ENST00000555128:exon3:c.G195A:p.V65V,ENSG00000129460:ENST00000397154:exon4:c.G270A:p.V90V,ENSG00000129460:ENST00000408901:exon4:c.G270A:p.V90V Score=658;Name=lod=630 NA 14q11.2 NA NA NA NA rs2236260 0.62 0.62 0.609 0.60024 0.7893 0.6379 0.6499 0.326 0.7025 0.78 0.65 0.62 0.33 0.7086 0.78 . . . . . . . . 0.000 P . . . . -1.011 T 0.000 T . 0.981 9.005 2.4 0.190 1.025 10.537 0.981034 NA NA 0.763837 0.406718 NA 0.572 NA 7.4049296 912 8 142228909 142228909 G A exonic SLC45A4 NA nonsynonymous SNV SLC45A4:NM_001080431:exon4:c.C677T:p.P226L exonic ENSG00000022567 NA nonsynonymous SNV ENSG00000022567:ENST00000024061:exon4:c.C677T:p.P226L,ENSG00000022567:ENST00000433583:exon4:c.C656T:p.P219L,ENSG00000022567:ENST00000517878:exon4:c.C830T:p.P277L,ENSG00000022567:ENST00000519067:exon4:c.C677T:p.P226L,ENSG00000022567:ENST00000520137:exon4:c.C251T:p.P84L NA NA 8q24.3 NA NA NA NA rs753778 0.35 0.35 0.346 0.375399 0.2942 0.4038 0.366 0.3737 0.4387 0.28 0.38 0.38 0.39 0.3508 0.39 0.2 T 0.008 B 0.004 B 0.207 N 1.000 P 1.24 L 2.47 T -1.043 T 0.000 T 0.126 0.445 6.417 -10.6 -1.756 0.059 9.998 0.445021 NA 0.01 0.284717 0.3931 NA 0.362 NA 7.4036164 912 6 32975257 32975257 C T exonic HLA-DOA NA synonymous SNV HLA-DOA:NM_002119:exon3:c.G444A:p.L148L exonic ENSG00000204252 NA synonymous SNV ENSG00000204252:ENST00000229829:exon3:c.G444A:p.L148L,ENSG00000204252:ENST00000450833:exon3:c.G354A:p.L118L Score=385;Name=lod=49 NA 6p21.32 Score=917;Name=V$USF_02 Name=ZNF263 NA NA rs365066 0.4 0.4 0.386 0.392173 0.4294 0.5496 0.3501 0.3071 0.3364 0.43 0.49 0.33 0.31 0.4053 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.115107 NA 0 0.430048 0.355394 NA 0.312 NA 7.4019186 912 13 42032572 42032572 T C exonic RGCC NA synonymous SNV RGCC:NM_014059:exon2:c.T201C:p.S67S exonic ENSG00000102760 NA synonymous SNV ENSG00000102760:ENST00000379359:exon2:c.T201C:p.S67S Score=691;Name=lod=856 NA 13q14.11 NA Name=SUZ12,E2F6_(H-50),E2F6 Name=43 NA rs7136 0.58 0.58 0.595 0.556709 0.3946 0.6766 0.5447 0.7829 0.3027 0.4 0.69 0.52 0.76 0.5009 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.341988 2.341988 NA 0.369293 0.647842 NA 0.514 NA 7.4018736 912 16 21272591 21272591 G C exonic CRYM NA synonymous SNV CRYM:NM_001014444:exon8:c.C738G:p.T246T,CRYM:NM_001888:exon9:c.C864G:p.T288T exonic ENSG00000103316 NA synonymous SNV ENSG00000103316:ENST00000396023:exon7:c.C864G:p.T288T,ENSG00000103316:ENST00000415987:exon7:c.C738G:p.T246T,ENSG00000103316:ENST00000543948:exon8:c.C864G:p.T288T,ENSG00000103316:ENST00000219599:exon9:c.C864G:p.T288T NA NA 16p12.2 NA Name=NF-YA,TAF1,MafF_(M8194),TCF4,Pol2,eGFP-JunD,FOSL1_(SC-183),NF-YB,JunD,FOSL2,RFX5_(N-494),HDAC2_(SC-6296),c-Fos,c-Jun,HEY1,MafK_(ab50322),eGFP-FOS,TBP Name=118 NA rs14122 0.48 0.48 0.506 0.502596 0.4016 0.2966 0.4179 0.826 0.4417 0.43 0.3 0.41 0.8 0.45 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074823 NA NA 0.415116 0.758981 NA 0.543 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037221.1;CLNDSDB=.;CLNDSDBID=. 7.3999506 912 2 44547574 44547574 G A exonic SLC3A1 NA nonsynonymous SNV SLC3A1:NM_000341:exon10:c.G1854A:p.M618I exonic ENSG00000138079 NA nonsynonymous SNV ENSG00000138079:ENST00000409740:exon4:c.G747A:p.M249I,ENSG00000138079:ENST00000409380:exon7:c.G1020A:p.M340I,ENSG00000138079:ENST00000260649:exon10:c.G1854A:p.M618I NA NA 2p21 NA Name=MafK_(ab50322) NA NA rs698761 0.46 0.46 0.455 0.460863 0.661 0.3214 0.5447 0.2126 0.6748 0.65 0.35 0.57 0.2 0.596 0.68 0.78 T 0.001 B 0.001 B 0.120 N 1.000 P 1.095 L -4.41 D -0.903 T 0.000 T 0.046 0.686 7.667 -1.37 0.140 -0.163 2.100 0.686183 NA 0.33 0.676395 0.288243 NA 0.514 NA 7.3999384 912 12 6428116 6428116 T G intronic PLEKHG6 NA NA NA exonic ENSG00000008323 NA nonsynonymous SNV ENSG00000008323:ENST00000536531:exon12:c.T1481G:p.I494S NA NA 12p13.31 NA NA Name=3 NA rs4764497 0.44 0.44 0.463 0.403355 0.6223 0.3046 0.3631 0.3207 0.4202 0.63 0.32 0.43 0.31 0.5334 0.63 . . 0.02 B 0.025 B . . 1.000 P . . 0.1 T -0.924 T 0.000 T 0.046 0.509 6.758 -7.13 -1.107 -0.807 0.765 0.508646 NA NA 0.611279 0.365638 NA 0.413 NA 7.3996877 912 6 31239518 31239518 C T exonic HLA-C NA synonymous SNV HLA-C:NM_001243042:exon2:c.G201A:p.P67P,HLA-C:NM_002117:exon2:c.G201A:p.P67P exonic ENSG00000204525 NA synonymous SNV ENSG00000204525:ENST00000376228:exon2:c.G201A:p.P67P,ENSG00000204525:ENST00000376237:exon2:c.G201A:p.P67P,ENSG00000204525:ENST00000383329:exon2:c.G201A:p.P67P NA NA 6p21.33 NA Name=Pol2-4H8,RFX5_(N-494),Pol2,CTCF Name=31 NA rs1050420 0.42 0.42 0.361 0.445288 0.4314 0.2808 0.513 0.5363 0.4581 0.42 0.27 0.54 0.5 0.4234 0.54 . . . . . . . . 1.000 P . . . . -1.016 T 0.029 T . 0.54 6.921 -0.177 -0.051 -0.011 3.289 0.539543 NA NA 0.412602 0.479801 NA 0.109 NA 7.3992646 912 14 94563265 94563265 C T UTR5 IFI27L1 NM_145249:c.-19C>T,NM_206949:c.-19C>T NA NA exonic ENSG00000165948 NA stopgain ENSG00000165948:ENST00000553664:exon3:c.C49T:p.R17X NA NA 14q32.12 NA NA NA NA rs79237142 0.05 0.05 0.04 0.0363419 0.0994 0.001 0.0375 0.031 0.0143 0.11 NA 0.02 0.03 0.0796 0.11 . . . . . . . . 0.000 P . . . . . . . . . 2.68 14.92 -1.34 -0.996 -2.029 . 2.679971 2.679971 NA 0.088953 0.043123 NA 0.101 NA 7.3987137 912 5 70800538 70800538 G A exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon16:c.G2332A:p.V778M exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon16:c.G2332A:p.V778M NA NA 5q13.2 NA NA NA NA rs3761967 0.42 0.42 0.415 0.432708 0.4911 0.379 0.3444 0.385 0.5552 0.5 0.39 0.35 0.38 0.4618 0.5 0.16 T 0.655 P 0.231 B 0.036 N 1.000 P 1.39 L 2.58 T -0.948 T 0.000 T 0.029 -0.46 1.874 -3.44 -0.485 -0.015 1.310 -0.459559 NA 0.12 0.481903 0.371732 NA 0.406 NA 7.3985304 912 21 47831309 47831309 G A exonic PCNT NA synonymous SNV PCNT:NM_006031:exon28:c.G5322A:p.E1774E exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon28:c.G5322A:p.E1774E Score=346;Name=lod=34 NA 21q22.3 NA NA Name=3 NA rs58559714 0.16 0.16 0.175 0.178714 0.0895 0.004 0.0937 0.4902 0.09 0.09 0.0035 0.1 0.48 0.1035 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230566 NA NA 0.075233 0.436904 NA 0.174 NA 7.3984336 912 1 247320258 247320258 A G exonic ZNF124 NA synonymous SNV ZNF124:NM_003431:exon4:c.T480C:p.H160H exonic ENSG00000196418 NA synonymous SNV ENSG00000196418:ENST00000340684:exon4:c.T480C:p.H160H,ENSG00000196418:ENST00000543802:exon4:c.T666C:p.H222H NA NA 1q44 NA Name=ZNF274,SETDB1,KAP1,ETS1 Name=23 NA rs41304032 0.1 0.1 0.085 0.095647 0.0795 0.001 0.1686 0.1982 0.0194 0.08 0.0017 0.17 0.19 0.0935 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816417 NA NA 0.095465 0.192011 NA 0.087 NA 7.3982016 912 15 76067987 76067987 A G intergenic MIR4313,UBE2Q2 dist=13331;dist=67635 NA NA ncRNA_exonic ENSG00000187812 NA NA NA Score=410;Name=lod=62 NA 15q24.2 NA Name=Pol2,TCF4,HEY1,TBP NA NA rs34243492 0.25 0.25 0.196 0.249002 0.3042 0.2391 0.3602 0.149 0.2587 0.32 0.2 0.33 0.15 0.2984 0.33 1 T 0.0 B 0.001 B . . . . . . . . -0.966 T 0.000 T . 0.501 6.719 0.756 -0.118 3.368 5.304 0.501314 NA 1 NA NA NA 0.29 NA 7.3974 912 7 53103554 53103554 C G exonic POM121L12 NA nonsynonymous SNV POM121L12:NM_182595:exon1:c.C190G:p.Q64E exonic ENSG00000221900 NA nonsynonymous SNV ENSG00000221900:ENST00000408890:exon1:c.C190G:p.Q64E NA NA 7p12.1 NA NA NA NA rs11238247 0.37 0.37 0.348 0.335463 0.4861 0.3095 0.4323 0.1921 0.3323 0.49 0.31 0.43 0.21 0.4415 0.51 0.02 D 0.815 P 0.168 B . . 1.000 P 0 N 1.91 T -0.941 T 0.000 T 0.058 0.518 6.806 1.11 0.903 0.130 5.576 0.51776 NA 0.01 0.509054 0.219023 NA 0.37 NA 7.3966794 912 3 141326602 141326602 T C exonic RASA2 NA synonymous SNV RASA2:NM_006506:exon20:c.T2016C:p.N672N exonic ENSG00000155903 NA synonymous SNV ENSG00000155903:ENST00000286364:exon20:c.T2016C:p.N672N,ENSG00000155903:ENST00000452898:exon20:c.T2019C:p.N673N Score=625;Name=lod=461 NA 3q23 Score=802;Name=V$IRF2_01 NA NA NA rs295322 0.18 0.18 0.177 0.173323 0.0656 0.2133 0.2464 0.2526 0.0838 0.06 0.24 0.21 0.27 0.1398 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.639152 1.639152 NA 0.065694 0.208182 ID=COSM149481;OCCURENCE=1(stomach) 0.123 NA 7.3955726 912 14 91636532 91636532 C T exonic;splicing C14orf159;C14orf159 NM_001102369:exon7:c.441+2C>T,NM_001102366:exon7:c.441+2C>T,NM_024952:exon5:c.441+2C>T,NM_001102367:exon6:c.441+2C>T nonsynonymous SNV C14orf159:NM_001102368:exon5:c.C443T:p.A148V exonic;splicing ENSG00000133943;ENSG00000133943 ENST00000520328:exon7:c.441+2C>T,ENST00000523816:exon7:c.441+2C>T,ENST00000428926:exon5:c.441+2C>T,ENST00000522322:exon6:c.441+2C>T,ENST00000523771:exon5:c.441+2C>T nonsynonymous SNV ENSG00000133943:ENST00000522170:exon4:c.C443T:p.A148V,ENSG00000133943:ENST00000256324:exon5:c.C443T:p.A148V,ENSG00000133943:ENST00000521334:exon5:c.C443T:p.A148V,ENSG00000133943:ENST00000523894:exon5:c.C443T:p.A148V,ENSG00000133943:ENST00000412671:exon6:c.C443T:p.A148V,ENSG00000133943:ENST00000517518:exon6:c.C443T:p.A148V,ENSG00000133943:ENST00000525393:exon6:c.C56T:p.A19V,ENSG00000133943:ENST00000519950:exon7:c.C443T:p.A148V,ENSG00000133943:ENST00000521077:exon7:c.C443T:p.A148V,ENSG00000133943:ENST00000518868:exon8:c.C443T:p.A148V NA NA 14q32.11 NA NA NA NA rs4900072 0.19 0.19 0.159 0.167133 0.3241 0.0585 0.2262 0.1036 0.1616 0.33 0.06 0.24 0.1 0.277 0.34 1 T 0.443 B 0.23 B 0.435 N 1.000 P -0.935 N 1.55 T -1.085 T 0.000 T 0.245 -0.602 1.312 -5.0 -0.830 -0.492 2.801 -0.601802 NA 1 0.33686 0.161371 NA 0.29 NA 7.3953734 912 20 62070966 62070966 G A exonic KCNQ2 NA synonymous SNV KCNQ2:NM_004518:exon6:c.C912T:p.F304F,KCNQ2:NM_172106:exon6:c.C912T:p.F304F,KCNQ2:NM_172107:exon6:c.C912T:p.F304F,KCNQ2:NM_172108:exon6:c.C912T:p.F304F,KCNQ2:NM_172109:exon6:c.C912T:p.F304F exonic ENSG00000075043 NA synonymous SNV ENSG00000075043:ENST00000344425:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000344462:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000354587:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000357249:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000359125:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000359689:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000360480:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000370221:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000370222:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000370224:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000370226:exon6:c.C912T:p.F304F,ENSG00000075043:ENST00000430658:exon6:c.C912T:p.F304F Score=507;Name=lod=153 NA 20q13.33 NA NA NA NA rs2297385 0.18 0.18 0.158 0.167931 0.0895 0.4792 0.1614 0.0061 0.1513 0.09 0.47 0.17 0.01 0.1146 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660947 NA NA 0.067326 0.021335 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117349.1;CLNDSDB=.;CLNDSDBID=. 7.3952406 912 16 75574030 75574030 C T exonic TMEM231 NA synonymous SNV TMEM231:NM_001077416:exon6:c.G972A:p.V324V,TMEM231:NM_001077418:exon7:c.G813A:p.V271V exonic ENSG00000205084 NA synonymous SNV ENSG00000205084:ENST00000398114:exon6:c.G900A:p.V300V,ENSG00000205084:ENST00000565067:exon6:c.G669A:p.V223V,ENSG00000205084:ENST00000258173:exon7:c.G813A:p.V271V Score=643;Name=lod=548 NA 16q23.1 NA NA NA NA rs2242406 0.26 0.26 0.216 0.270168 0.0437 0.7034 0.3429 0.0068 0.3609 0.04 0.74 0.31 0.01 0.174 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63738 NA NA 0.053831 0.022211 NA 0.13 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118632.2;CLNDSDB=.;CLNDSDBID=. 7.3951356 913 5 52351377 52351377 T C exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon8:c.T789C:p.A263A exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon8:c.T789C:p.A263A,ENSG00000164171:ENST00000509814:exon8:c.T789C:p.A263A,ENSG00000164171:ENST00000509960:exon8:c.T789C:p.A263A,ENSG00000164171:ENST00000510722:exon8:c.T789C:p.A263A Score=405;Name=lod=59 NA 5q11.2 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs1139484 0.1 0.1 0.11 0.0976438 0.0895 0.0317 0.0605 0.1717 0.1002 0.09 0.03 0.05 0.22 0.0867 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761306 NA NA 0.095581 0.159101 NA 0.094 NA 7.3948856 913 8 77767797 77767797 C T exonic ZFHX4 NA synonymous SNV ZFHX4:NM_024721:exon10:c.C8640T:p.G2880G exonic ENSG00000091656 NA synonymous SNV ENSG00000091656:ENST00000518282:exon9:c.C8562T:p.G2854G,ENSG00000091656:ENST00000050961:exon10:c.C8505T:p.G2835G,ENSG00000091656:ENST00000455469:exon10:c.C8505T:p.G2835G,ENSG00000091656:ENST00000521891:exon10:c.C8640T:p.G2880G Score=428;Name=lod=73 NA 8q21.11 NA Name=YY1 NA NA rs16939379 0.2 0.2 0.229 0.222644 0.0795 0.0218 0.1124 0.643 0.0869 0.08 0.03 0.13 0.62 0.114 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30601 NA NA 0.078384 0.508996 NA 0.21 NA 7.3947826 913 22 38273749 38273749 T C exonic EIF3L NA synonymous SNV EIF3L:NM_001242923:exon9:c.T1002C:p.I334I,EIF3L:NM_016091:exon11:c.T1146C:p.I382I exonic ENSG00000100129 NA synonymous SNV ENSG00000100129:ENST00000381683:exon9:c.T1002C:p.I334I,ENSG00000100129:ENST00000406934:exon9:c.T852C:p.I284I,ENSG00000100129:ENST00000412331:exon11:c.T1146C:p.I382I Score=677;Name=lod=753 NA 22q13.1 Score=807;Name=V$CDPCR3_01 NA NA Score=85;Name=1498834_1_-_85 rs9466 0.4 0.4 0.395 0.402955 0.4215 0.1815 0.4294 0.534 0.4162 0.43 0.19 0.49 0.55 0.4243 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021991 NA NA 0.426395 0.514753 NA 0.428 NA 7.3944716 913 12 93196422 93196422 T G exonic EEA1 NA nonsynonymous SNV EEA1:NM_003566:exon19:c.A2428C:p.K810Q exonic ENSG00000102189 NA nonsynonymous SNV ENSG00000102189:ENST00000322349:exon19:c.A2428C:p.K810Q NA NA 12q22 NA NA NA NA rs10745623 0.7 0.7 0.658 0.705471 0.6292 0.9405 0.7752 0.4887 0.7853 0.63 0.94 0.77 0.5 0.6842 0.94 0.33 T 0.012 B 0.006 B 0.460 N 1.000 P 0 N -1.08 T -1.012 T 0.000 T 0.076 -0.781 0.729 -7.99 -1.421 -0.160 9.037 -0.780529 NA 0.64 0.625698 0.525897 NA 0.616 NA 7.3942354 913 6 102503317 102503317 G A exonic GRIK2 NA synonymous SNV GRIK2:NM_001166247:exon15:c.G2424A:p.E808E,GRIK2:NM_021956:exon15:c.G2424A:p.E808E,GRIK2:NM_175768:exon15:c.G2424A:p.E808E exonic ENSG00000164418 NA synonymous SNV ENSG00000164418:ENST00000369137:exon14:c.G2196A:p.E732E,ENSG00000164418:ENST00000318991:exon15:c.G2424A:p.E808E,ENSG00000164418:ENST00000369134:exon15:c.G2277A:p.E759E,ENSG00000164418:ENST00000369138:exon15:c.G2424A:p.E808E,ENSG00000164418:ENST00000413795:exon15:c.G2424A:p.E808E,ENSG00000164418:ENST00000421544:exon15:c.G2424A:p.E808E Score=705;Name=lod=977 NA 6q16.3 Score=740;Name=V$SRF_01 NA NA NA rs2227283 0.38 0.38 0.365 0.327476 0.4414 0.3601 0.4107 0.2375 0.2393 0.46 0.35 0.42 0.25 0.3913 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937627 NA NA 0.440581 0.280754 NA 0.486 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117164.2;CLNDSDB=.;CLNDSDBID=. 7.3933856 913 1 242042545 242042545 A G exonic EXO1 NA nonsynonymous SNV EXO1:NM_003686:exon11:c.A2009G:p.E670G,EXO1:NM_006027:exon11:c.A2009G:p.E670G,EXO1:NM_130398:exon13:c.A2009G:p.E670G exonic ENSG00000174371 NA nonsynonymous SNV ENSG00000174371:ENST00000348581:exon11:c.A2009G:p.E670G,ENSG00000174371:ENST00000518483:exon11:c.A2009G:p.E670G,ENSG00000174371:ENST00000366548:exon13:c.A2009G:p.E670G NA NA 1q43 NA NA NA NA rs1776148 0.71 0.71 0.698 0.681909 0.6511 0.8085 0.6859 0.6884 0.5716 0.65 0.82 0.69 0.67 0.6573 0.82 0.39 T 0.0 B 0.0 B 0.025 N 1.000 P 0 N 1.44 T -1.000 T 0.000 T 0.206 0.75 7.974 -5.51 -1.474 -0.907 2.518 0.749628 NA 0.4 0.631744 0.700409 NA 0.732 NA 7.3931894 913 13 31495179 31495179 G A exonic MEDAG NA synonymous SNV MEDAG:NM_032849:exon3:c.G417A:p.T139T exonic ENSG00000102802 NA synonymous SNV ENSG00000102802:ENST00000380482:exon3:c.G417A:p.T139T Score=590;Name=lod=334 NA 13q12.3 NA NA NA NA rs11841583 0.11 0.11 0.098 0.112021 0.1004 0.0149 0.1239 0.2186 0.0716 0.11 0.02 0.12 0.22 0.0925 0.22 . . . . . . . . 0.000 P . . . . -1.040 T 0.000 T . 1.101 9.492 1.28 0.038 0.002 5.498 1.100926 NA NA 0.08186 0.199501 NA 0.217 NA 7.3919066 913 17 67212423 67212423 G A exonic ABCA10 NA nonsynonymous SNV ABCA10:NM_080282:exon8:c.C607T:p.P203S exonic ENSG00000154263 NA nonsynonymous SNV ENSG00000154263:ENST00000518929:exon5:c.C607T:p.P203S,ENSG00000154263:ENST00000523419:exon5:c.C607T:p.P203S,ENSG00000154263:ENST00000522406:exon7:c.C607T:p.P203S,ENSG00000154263:ENST00000269081:exon8:c.C607T:p.P203S,ENSG00000154263:ENST00000416101:exon8:c.C607T:p.P203S,ENSG00000154263:ENST00000432313:exon8:c.C607T:p.P203S NA NA 17q24.3 NA NA NA NA rs9909216 0.54 0.54 0.532 0.580671 0.663 0.3492 0.6037 0.6422 0.635 0.66 0.3 0.57 0.6 0.6209 0.66 0.87 T 0.013 B 0.029 B 0.915 U 1.000 P -0.11 N -2.24 D -0.965 T 0.000 T 0.067 0.141 4.757 2.35 0.585 0.179 9.052 0.140764 NA 0.04 0.657674 0.649342 NA 0.558 NA 7.3917594 913 13 44457984 44457984 A G exonic LACC1 NA synonymous SNV LACC1:NM_001128303:exon4:c.A819G:p.R273R,LACC1:NM_153218:exon4:c.A819G:p.R273R exonic ENSG00000179630 NA synonymous SNV ENSG00000179630:ENST00000325686:exon4:c.A819G:p.R273R,ENSG00000179630:ENST00000441843:exon4:c.A819G:p.R273R Score=624;Name=lod=456 NA 13q14.11 NA NA Name=20 NA rs9533673 0.07 0.07 0.058 0.0646965 0.1014 NA 0.0793 0.1029 0.0317 0.09 NA 0.07 0.11 0.0753 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.405482 1.405482 NA 0.101279 0.108034 NA 0.072 NA 7.3886876 913 7 150934975 150934975 C G exonic CHPF2 NA synonymous SNV CHPF2:NM_019015:exon4:c.C1527G:p.A509A exonic ENSG00000033100 NA synonymous SNV ENSG00000033100:ENST00000035307:exon4:c.C1527G:p.A509A,ENSG00000033100:ENST00000495645:exon5:c.C1503G:p.A501A Score=419;Name=lod=67 NA 7q36.1 NA Name=CTCF Name=4 NA rs2487154 0.47 0.47 0.402 0.433506 0.4503 0.7153 0.4164 0.2685 0.3609 0.45 0.68 0.43 0.27 0.4197 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615307 NA NA 0.408234 0.296322 NA 0.391 NA 7.3884326 913 12 11183255 11183255 G A exonic TAS2R31 NA nonsynonymous SNV TAS2R31:NM_176885:exon1:c.C680T:p.A227V exonic ENSG00000256436 NA nonsynonymous SNV ENSG00000256436:ENST00000390675:exon1:c.C680T:p.A227V NA NA 12p13.2 NA NA NA NA rs10845293 0.4 0.4 0.407 0.34984 0.505 0.1944 0.464 0.3593 0.2566 0.53 0.23 0.43 0.37 0.4402 0.53 0.11 T 0.628 P 0.434 B . . 1.000 P 2.18 M 4.91 T -1.039 T 0.000 T 0.083 1.152 9.691 1.42 -0.014 0.847 8.035 1.151811 NA NA 0.499884 0.374943 NA 0.29 NA 7.3882494 913 6 109767931 109767931 C T exonic MICAL1 NA nonsynonymous SNV MICAL1:NM_001159291:exon17:c.G2014A:p.A672T,MICAL1:NM_022765:exon18:c.G2272A:p.A758T exonic ENSG00000135596 NA nonsynonymous SNV ENSG00000135596:ENST00000358577:exon17:c.G2014A:p.A672T,ENSG00000135596:ENST00000358807:exon18:c.G2272A:p.A758T,ENSG00000135596:ENST00000368952:exon18:c.G2329A:p.A777T NA NA 6q21 NA NA NA NA rs59056467 0.31 0.31 0.201 0.311302 0.3519 0.3482 0.3156 0.1936 0.3875 0.33 0.39 0.31 0.17 0.3367 0.39 0.48 T 0.004 B 0.001 B 0.350 N 1.000 P 0 N 0.7 T -1.007 T 0.021 T 0.087 0.899 8.656 2.43 0.720 0.504 5.107 0.899389 NA 0.09 0.256512 0.165229 NA NA NA 7.3882214 913 17 7320581 7320581 C T exonic NLGN2 NA synonymous SNV NLGN2:NM_020795:exon7:c.C1971T:p.P657P exonic ENSG00000169992 NA synonymous SNV ENSG00000169992:ENST00000302926:exon7:c.C1971T:p.P657P,ENSG00000169992:ENST00000575301:exon8:c.C1971T:p.P657P Score=358;Name=lod=38 NA 17p13.1 Score=792;Name=V$ARP1_01 NA NA NA rs78081080 0.05 0.05 0.056 0.0660942 0.0895 0.0397 0.0735 0.0061 0.1452 0.09 0.03 0.07 0.01 0.1174 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702667 NA NA 0.072187 0.016667 NA 0.029 NA 7.3875796 913 2 241722445 241722445 G A intronic KIF1A NA NA NA intronic ENSG00000130294 NA NA NA NA NA 2q37.3 NA NA NA NA rs2288750 0.3 0.3 0.336 0.288339 0.1869 0.3403 0.2493 0.4864 0.0992 0.18 0.36 0.22 0.46 0.2229 0.46 0 D . . . . 0.065 U 1.000 P . . . . -0.983 T 0.000 T . -0.697 0.98 -4.87 -1.345 -0.915 5.922 -0.697471 NA NA 0.203023 0.422445 NA 0.333 NA 7.387177 913 7 99954393 99954393 G A intergenic PMS2P1,PILRB dist=20463;dist=1233 NA NA exonic ENSG00000121716 NA nonsynonymous SNV ENSG00000121716:ENST00000448382:exon5:c.G170A:p.R57Q,ENSG00000121716:ENST00000455145:exon5:c.G170A:p.R57Q NA NA 7q22.1 NA NA NA NA rs6946768 0.09 0.09 0.084 0.0816693 0.1759 0.0278 0.0937 0.0242 0.1094 0.18 0.02 0.09 0.02 0.2706 0.18 . . . . . . . . 1.000 P . . . . -1.021 T 0.000 T 0.072 1.36 10.47 -4.36 -0.962 -0.369 5.715 1.359654 1.359654 0.26 NA NA NA 0.094 NA 7.3868334 913 15 71184495 71184495 A G exonic THAP10 NA synonymous SNV THAP10:NM_020147:exon1:c.T117C:p.G39G exonic ENSG00000129028 NA synonymous SNV ENSG00000129028:ENST00000249861:exon1:c.T117C:p.G39G Score=451;Name=lod=91 NA 15q23 NA Name=YY1_(C-20),PU.1 Name=144 NA rs2955035 0.51 0.51 0.518 0.545927 0.4066 0.5833 0.2968 0.7595 0.5389 0.41 0.6 0.32 0.73 0.4679 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.356135 1.356135 NA 0.405588 0.69768 NA 0.536 NA 7.3865786 913 9 139916833 139916833 T G exonic ABCA2 NA synonymous SNV ABCA2:NM_001606:exon6:c.A537C:p.A179A,ABCA2:NM_212533:exon6:c.A627C:p.A209A exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000371605:exon5:c.A534C:p.A178A,ENSG00000107331:ENST00000459850:exon5:c.A624C:p.A208A,ENSG00000107331:ENST00000487109:exon5:c.A624C:p.A208A,ENSG00000107331:ENST00000265662:exon6:c.A537C:p.A179A,ENSG00000107331:ENST00000341511:exon6:c.A537C:p.A179A NA NA 9q34.3 NA Name=TBP,IRF1,HMGN3,eGFP-JunD,NRSF,Pol2 Name=119 NA rs35590326 0.09 0.09 0.099 0.091853 0.0994 0.0317 0.0937 0.1732 0.0348 0.08 0.03 0.08 0.16 0.0947 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.297247 NA NA 0.086149 0.187191 ID=COSM455628;OCCURENCE=1(breast) 0.181 NA 7.3864176 913 1 35260769 35260769 C T exonic GJA4 NA nonsynonymous SNV GJA4:NM_002060:exon2:c.C955T:p.P319S exonic ENSG00000187513 NA nonsynonymous SNV ENSG00000187513:ENST00000342280:exon2:c.C955T:p.P319S NA NA 1p34.3 NA NA NA NA rs1764391 0.33 0.33 0.353 0.333666 0.332 0.1726 0.2723 0.5847 0.2055 0.33 0.19 0.3 0.54 0.3134 0.54 0.2 T 0.0 B 0.0 B 0.088 N 1.000 P -1.1 N -4.25 D -0.943 T 0.000 T 0.025 -1.249 0.051 0.013 0.237 0.155 5.862 -1.249319 NA 0.76 0.302674 0.52542 NA 0.283 NA 7.3852594 913 8 144993069 144993069 G A exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.C10878T:p.Y3626Y,PLEC:NM_201379:exon32:c.C10854T:p.Y3618Y,PLEC:NM_201380:exon32:c.C11331T:p.Y3777Y,PLEC:NM_201381:exon32:c.C10824T:p.Y3608Y,PLEC:NM_201382:exon32:c.C10920T:p.Y3640Y,PLEC:NM_201383:exon32:c.C10932T:p.Y3644Y,PLEC:NM_201384:exon32:c.C10920T:p.Y3640Y,PLEC:NM_000445:exon33:c.C11001T:p.Y3667Y exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.C11331T:p.Y3777Y,ENSG00000178209:ENST00000345136:exon32:c.C10920T:p.Y3640Y,ENSG00000178209:ENST00000354589:exon32:c.C10920T:p.Y3640Y,ENSG00000178209:ENST00000354958:exon32:c.C10854T:p.Y3618Y,ENSG00000178209:ENST00000356346:exon32:c.C10878T:p.Y3626Y,ENSG00000178209:ENST00000357649:exon32:c.C10932T:p.Y3644Y,ENSG00000178209:ENST00000398774:exon32:c.C10824T:p.Y3608Y,ENSG00000178209:ENST00000527096:exon32:c.C10989T:p.Y3663Y,ENSG00000178209:ENST00000436759:exon33:c.C11001T:p.Y3667Y Score=473;Name=lod=112 NA 8q24.3 NA NA NA NA rs28455570 0.05 0.05 0.044 0.0333466 0.1173 0.001 0.0375 0.0015 0.0204 0.11 0.0017 0.05 0.0041 0.0681 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252729 NA NA 0.09609 0.020648 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117943.2;CLNDSDB=.;CLNDSDBID=. 7.3851766 914 16 15131974 15131974 G T exonic NTAN1 NA nonsynonymous SNV NTAN1:NM_001270767:exon8:c.C532A:p.H178N,NTAN1:NM_001270766:exon9:c.C532A:p.H178N,NTAN1:NM_173474:exon10:c.C847A:p.H283N exonic ENSG00000157045 NA nonsynonymous SNV ENSG00000157045:ENST00000287706:exon10:c.C847A:p.H283N NA Name=Height 16p13.11 NA NA NA NA rs1136001 0.33 0.33 0.283 0.343251 0.3072 0.3661 0.5331 0.1838 0.4376 0.32 0.38 0.48 0.19 0.3409 0.48 0.5 T 0.0 B 0.0 B 0.009 N 1.000 P -0.805 N 1.65 T -0.912 T 0.000 T 0.018 -0.522 1.619 1.84 -0.026 0.598 6.911 -0.522108 NA 0.7 0.300349 0.225762 NA 0.406 NA 7.3848844 914 9 90322023 90322023 G A exonic DAPK1 NA nonsynonymous SNV DAPK1:NM_004938:exon26:c.G4037A:p.S1346N exonic ENSG00000196730 NA nonsynonymous SNV ENSG00000196730:ENST00000491893:exon24:c.G3839A:p.S1280N,ENSG00000196730:ENST00000358077:exon26:c.G4037A:p.S1346N,ENSG00000196730:ENST00000408954:exon26:c.G4037A:p.S1346N,ENSG00000196730:ENST00000472284:exon26:c.G4037A:p.S1346N,ENSG00000196730:ENST00000469640:exon27:c.G4112A:p.S1371N NA NA 9q21.33 NA NA NA NA rs1056719 0.64 0.64 0.629 0.65595 0.6372 0.8323 0.6974 0.3986 0.8119 0.64 0.83 0.68 0.39 0.6672 0.83 0.6 T 0.0 B 0.0 B 0.026 N 1.000 P -0.37 N -1.98 D -0.943 T 0.000 T 0.009 -2.141 0.005 -2.04 -0.509 0.776 12.608 -2.140561 NA 0.21 0.645457 0.461268 NA 0.601 NA 7.3834764 914 11 124294703 124294703 T C exonic OR8B4 NA nonsynonymous SNV OR8B4:NM_001005196:exon1:c.A65G:p.E22G exonic ENSG00000198657 NA nonsynonymous SNV ENSG00000198657:ENST00000356130:exon1:c.A65G:p.E22G NA NA 11q24.2 NA NA NA NA rs10750270 0.38 0.38 0.35 0.346446 0.3121 0.5952 0.3242 0.2874 0.2209 0.31 0.62 0.35 0.25 0.3273 0.62 0.19 T 0.006 B 0.012 B 0.022 N 1.000 P 1.215 L 7.4 T -1.112 T 0.000 T 0.093 -0.312 2.515 2.16 0.337 0.167 11.163 -0.312118 NA 0.17 0.311119 0.274648 NA 0.217 NA 7.3828144 914 12 109883374 109883374 T C exonic MYO1H NA nonsynonymous SNV MYO1H:NM_001101421:exon30:c.T3002C:p.L1001P exonic ENSG00000174527 NA nonsynonymous SNV ENSG00000174527:ENST00000543960:exon4:c.T314C:p.L105P,ENSG00000174527:ENST00000431443:exon30:c.T3032C:p.L1011P,ENSG00000174527:ENST00000310903:exon31:c.T3002C:p.L1001P NA NA 12q24.11 NA NA Name=68 NA rs3825393 0.67 0.67 0.684 0.704673 0.6491 0.4821 0.5591 0.9803 0.7219 0.65 0.48 0.58 0.97 0.6584 0.97 1 T 0.0 B 0.0 B . . 0.997 P -1.845 N 1.36 T -0.989 T 0.000 T 0.131 1.432 10.73 2.79 0.402 0.012 8.431 1.432156 1.432156 0.35 0.643852 0.920141 NA 0.761 NA 7.3819814 914 3 195778972 195778972 C T exonic TFRC NA synonymous SNV TFRC:NM_001128148:exon19:c.G2124A:p.T708T,TFRC:NM_003234:exon19:c.G2124A:p.T708T exonic ENSG00000072274 NA synonymous SNV ENSG00000072274:ENST00000535031:exon17:c.G1278A:p.T426T,ENSG00000072274:ENST00000420415:exon18:c.G1881A:p.T627T,ENSG00000072274:ENST00000360110:exon19:c.G2124A:p.T708T,ENSG00000072274:ENST00000392396:exon19:c.G2124A:p.T708T Score=409;Name=lod=61 NA 3q29 NA Name=Pol2-4H8,PU.1,Pol2(phosphoS2) NA NA rs1805051 0.05 0.05 0.037 0.0483227 0.0875 0.002 0.0706 0.003 0.1012 0.09 NA 0.09 0.01 0.0895 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.79406 NA NA 0.107907 0.019519 NA 0.094 NA 7.3817596 914 21 37507769 37507769 C T exonic CBR3 NA synonymous SNV CBR3:NM_001236:exon1:c.C279T:p.V93V exonic ENSG00000159231 NA synonymous SNV ENSG00000159231:ENST00000290354:exon1:c.C279T:p.V93V Score=554;Name=lod=238 NA 21q22.12 Score=733;Name=V$NRSF_01 Name=HA-E2F1,E2F1,ZNF263,E2F6,Pol2 NA NA rs881712 0.35 0.35 0.351 0.308506 0.4304 0.4276 0.4524 0.0673 0.2843 0.44 0.43 0.42 0.08 0.4123 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698868 NA NA 0.44301 0.136178 NA 0.384 NA 7.3809566 914 7 154379517 154379517 C T intronic DPP6 NA NA NA exonic ENSG00000130226 NA nonsynonymous SNV ENSG00000130226:ENST00000406326:exon6:c.C785T:p.S262L NA NA 7q36.2 NA NA NA NA rs35392762 0.07 0.07 0.059 0.0828674 0.0954 0.005 0.2176 0.0688 0.0736 0.09 0.0017 0.18 0.05 0.0961 0.18 0.04 D 0.78 P 0.132 B . . 1.000 P . . . . -1.052 T 0.000 T 0.072 0.497 6.698 1.86 0.704 0.155 5.793 0.497465 NA 0 0.094975 0.073714 NA 0.08 NA 7.3801917 914 11 551753 551753 G A exonic LRRC56 NA nonsynonymous SNV LRRC56:NM_198075:exon10:c.G899A:p.R300H exonic ENSG00000161328 NA nonsynonymous SNV ENSG00000161328:ENST00000270115:exon10:c.G899A:p.R300H NA NA 11p15.5 NA Name=ZBTB7A_(SC-34508),TAL1_(SC-12984) NA NA rs4963198 0.64 0.64 0.645 0.647364 0.664 0.873 0.6369 0.4372 0.6892 0.67 0.83 0.58 0.41 0.6563 0.83 0.53 T 0.0 B 0.0 B 0.011 N 1.000 P 0 N 2.97 T -1.065 T 0.000 T 0.026 0.202 5.088 3.21 0.425 0.171 6.995 0.201951 NA 0.29 0.632938 0.464725 NA 0.565 NA 7.3800954 914 11 43472746 43472746 C T exonic TTC17 NA synonymous SNV TTC17:NM_018259:exon21:c.C2961T:p.L987L exonic ENSG00000052841 NA synonymous SNV ENSG00000052841:ENST00000039989:exon21:c.C2961T:p.L987L Score=547;Name=lod=222 NA 11p12 NA NA NA NA rs11551137 0.08 0.08 0.043 0.0830671 0.0954 0.0317 0.2579 0.0023 0.1084 0.1 0.03 0.23 0.0041 0.1025 0.23 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . 1.101 9.492 0.274 0.109 -0.334 6.232 1.100985 NA NA 0.088837 0.021788 NA 0.065 NA 7.3799296 914 16 70569215 70569215 A T exonic SF3B3 NA synonymous SNV SF3B3:NM_012426:exon6:c.A717T:p.P239P exonic ENSG00000189091 NA synonymous SNV ENSG00000189091:ENST00000302516:exon6:c.A717T:p.P239P Score=638;Name=lod=522 NA 16q22.1 NA Name=GATA-1 Name=4 NA rs33910368 0.44 0.44 0.431 0.470248 0.4155 0.5804 0.4135 0.2874 0.7004 0.41 0.59 0.43 0.34 0.4496 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002446 NA NA 0.422326 0.293904 NA 0.514 NA 7.3792406 914 11 10503756 10503756 G A exonic AMPD3 NA synonymous SNV AMPD3:NM_001172431:exon3:c.G96A:p.P32P,AMPD3:NM_000480:exon4:c.G600A:p.P200P,AMPD3:NM_001025389:exon4:c.G573A:p.P191P,AMPD3:NM_001025390:exon4:c.G594A:p.P198P,AMPD3:NM_001172430:exon4:c.G573A:p.P191P exonic ENSG00000133805 NA synonymous SNV ENSG00000133805:ENST00000444303:exon3:c.G96A:p.P32P,ENSG00000133805:ENST00000396553:exon4:c.G573A:p.P191P,ENSG00000133805:ENST00000396554:exon4:c.G600A:p.P200P,ENSG00000133805:ENST00000528723:exon4:c.G594A:p.P198P,ENSG00000133805:ENST00000529507:exon4:c.G573A:p.P191P,ENSG00000133805:ENST00000529834:exon4:c.G573A:p.P191P,ENSG00000133805:ENST00000534047:exon4:c.G600A:p.P200P,ENSG00000133805:ENST00000524866:exon5:c.G573A:p.P191P NA NA 11p15.4 Score=754;Name=V$STAT5A_02 NA NA NA rs16907852 0.12 0.12 0.141 0.13119 0.0994 0.003 0.0879 0.3253 0.0644 0.1 NA 0.1 0.31 0.0965 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53123 NA NA 0.092709 0.275125 NA 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079369.1;CLNDSDB=.;CLNDSDBID=. 7.3780576 914 6 29910562 29910562 A C exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon2:c.A102C:p.T34T,HLA-A:NM_002116:exon2:c.A102C:p.T34T exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376802:exon2:c.A102C:p.T34T,ENSG00000206503:ENST00000376806:exon2:c.A102C:p.T34T,ENSG00000206503:ENST00000376809:exon2:c.A102C:p.T34T,ENSG00000206503:ENST00000396634:exon4:c.A102C:p.T34T NA NA 6p22.1 NA Name=Pol2,Pol2-4H8,CTCF Name=11 NA rs1059418 0.18 0.18 0.029 0.20008 0.1282 0.3284 0.1182 0.1641 0.2485 0.12 0.3 0.13 0.16 0.1605 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073415 NA NA NA NA NA 0.181 NA 7.3779666 914 13 108518444 108518444 G A exonic FAM155A NA synonymous SNV FAM155A:NM_001080396:exon1:c.C501T:p.R167R exonic ENSG00000204442 NA synonymous SNV ENSG00000204442:ENST00000375915:exon1:c.C501T:p.R167R Score=569;Name=lod=275 NA 13q33.3 Score=896;Name=V$E2F_02 NA NA NA rs1771137 0.15 0.15 0.163 0.18151 0.0795 0.1806 0.1571 0.2867 0.1626 0.08 0.13 0.13 0.32 0.1263 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04775 NA NA 0.083255 0.239559 NA 0.167 NA 7.3776116 914 5 180626927 180626927 A G exonic TRIM7 NA nonsynonymous SNV TRIM7:NM_203297:exon1:c.T227C:p.V76A,TRIM7:NM_203293:exon3:c.T773C:p.V258A,TRIM7:NM_203294:exon3:c.T149C:p.V50A,TRIM7:NM_203295:exon3:c.T149C:p.V50A,TRIM7:NM_203296:exon3:c.T149C:p.V50A exonic ENSG00000146054 NA nonsynonymous SNV ENSG00000146054:ENST00000393319:exon1:c.T227C:p.V76A,ENSG00000146054:ENST00000274773:exon3:c.T773C:p.V258A,ENSG00000146054:ENST00000361809:exon3:c.T149C:p.V50A,ENSG00000146054:ENST00000393315:exon3:c.T149C:p.V50A,ENSG00000146054:ENST00000422067:exon3:c.T149C:p.V50A NA NA 5q35.3 Score=834;Name=V$AP4_01 NA NA NA rs416574 0.47 0.47 0.494 0.532947 0.2893 0.4732 0.2709 0.9455 0.4734 0.28 0.44 0.27 0.94 0.3769 0.94 0.38 T 0.0 B 0.0 B 0.707 N 1.000 P -0.69 N 3.62 T -1.082 T 0.000 T 0.011 -0.224 2.916 -0.916 -0.899 -0.072 2.280 -0.224239 NA 0.41 0.289767 0.828643 ID=COSM150034;OCCURENCE=1(stomach) 0.399 NA 7.3773664 914 8 77895865 77895865 A G exonic PEX2 NA nonsynonymous SNV PEX2:NM_001079867:exon3:c.T550C:p.C184R,PEX2:NM_001172087:exon3:c.T550C:p.C184R,PEX2:NM_000318:exon4:c.T550C:p.C184R,PEX2:NM_001172086:exon5:c.T550C:p.C184R exonic ENSG00000164751 NA nonsynonymous SNV ENSG00000164751:ENST00000520103:exon3:c.T550C:p.C184R,ENSG00000164751:ENST00000522527:exon3:c.T550C:p.C184R,ENSG00000164751:ENST00000357039:exon4:c.T550C:p.C184R,ENSG00000164751:ENST00000419564:exon4:c.T550C:p.C184R Score=556;Name=lod=243 NA 8q21.11 NA NA NA NA rs10087163 0.99 0.99 0.998 0.996206 0.9831 1 0.9986 1 0.999 0.98 1 1 1 0.9878 1 1 T 0.0 B 0.0 B 0.000 N 0.177 P -2.895 N -1.47 T -0.933 T 0.000 T 0.398 -0.84 0.573 3.59 0.429 6.173 10.819 -0.840233 NA 1 0.985116 0.997049 NA 1 NA 7.3773174 914 5 176637149 176637149 G A exonic NSD1 NA synonymous SNV NSD1:NM_022455:exon5:c.G1749A:p.E583E,NSD1:NM_172349:exon6:c.G942A:p.E314E exonic ENSG00000165671 NA synonymous SNV ENSG00000165671:ENST00000361032:exon2:c.G1440A:p.E480E,ENSG00000165671:ENST00000439151:exon5:c.G1749A:p.E583E,ENSG00000165671:ENST00000347982:exon6:c.G942A:p.E314E,ENSG00000165671:ENST00000354179:exon6:c.G942A:p.E314E Score=505;Name=lod=151 NA 5q35.3 NA NA NA NA rs3733874 0.22 0.22 0.219 NA NA NA NA NA NA 0.12 0.51 0.19 0.08 0.1765 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105471 NA NA 0.113282 0.075296 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082103.1;CLNDSDB=.;CLNDSDBID=. 7.3768846 914 3 75379085 75379085 G A intergenic MIR4444-1,FAM86DP dist=115386;dist=91618 NA NA ncRNA_exonic ENSG00000228868 NA NA NA Score=397;Name=lod=55 NA 3p12.3 Score=846;Name=V$RFX1_01 Name=GATA-2,GATA3_(SC-268) Name=11 NA rs12490683 0.45 0.45 0.44 0.410942 0.6233 0.4375 0.4481 0.1271 0.5225 0.62 0.46 0.49 0.14 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949431 NA 0 NA NA NA 0.471 NA 7.3767 914 10 134161633 134161633 A G exonic LRRC27 NA synonymous SNV LRRC27:NM_001143757:exon6:c.A699G:p.P233P,LRRC27:NM_001143758:exon6:c.A699G:p.P233P,LRRC27:NM_001143759:exon6:c.A699G:p.P233P,LRRC27:NM_030626:exon6:c.A699G:p.P233P exonic ENSG00000148814 NA synonymous SNV ENSG00000148814:ENST00000368610:exon5:c.A513G:p.P171P,ENSG00000148814:ENST00000432555:exon5:c.A318G:p.P106P,ENSG00000148814:ENST00000344079:exon6:c.A699G:p.P233P,ENSG00000148814:ENST00000368612:exon6:c.A513G:p.P171P,ENSG00000148814:ENST00000368613:exon6:c.A699G:p.P233P,ENSG00000148814:ENST00000368614:exon6:c.A699G:p.P233P,ENSG00000148814:ENST00000368615:exon6:c.A699G:p.P233P,ENSG00000148814:ENST00000392638:exon6:c.A699G:p.P233P NA NA 10q26.3 NA NA NA NA rs2474328 0.83 0.83 0.842 0.845847 0.7535 0.8651 0.7954 0.9834 0.771 0.75 0.83 0.8 0.98 0.7856 0.98 . . . . . . . . 1.000 P . . . . -1.069 T 0.000 T . 0.266 5.437 -8.2 -3.477 -4.009 1.698 0.265676 NA NA 0.751047 0.944167 NA 0.739 NA 7.3765196 914 12 104709559 104709559 C T exonic TXNRD1 NA unknown UNKNOWN exonic ENSG00000198431 NA synonymous SNV ENSG00000198431:ENST00000354940:exon4:c.C165T:p.L55L,ENSG00000198431:ENST00000378070:exon4:c.C462T:p.L154L,ENSG00000198431:ENST00000397736:exon4:c.C297T:p.L99L,ENSG00000198431:ENST00000427956:exon4:c.C510T:p.L170L,ENSG00000198431:ENST00000526580:exon4:c.C165T:p.L55L,ENSG00000198431:ENST00000527688:exon4:c.C165T:p.L55L,ENSG00000198431:ENST00000540716:exon4:c.C51T:p.L17L,ENSG00000198431:ENST00000388854:exon5:c.C321T:p.L107L,ENSG00000198431:ENST00000527335:exon5:c.C165T:p.L55L,ENSG00000198431:ENST00000542918:exon5:c.C315T:p.L105L,ENSG00000198431:ENST00000526266:exon6:c.C165T:p.L55L,ENSG00000198431:ENST00000531689:exon6:c.C165T:p.L55L,ENSG00000198431:ENST00000531691:exon6:c.C297T:p.L99L,ENSG00000198431:ENST00000429002:exon7:c.C615T:p.L205L Score=483;Name=lod=122 NA 12q23.3 NA Name=Pol2 Name=31 NA rs4964287 0.32 0.32 0.344 0.307907 0.336 0.1974 0.2392 0.4259 0.2822 0.36 0.23 0.25 0.44 0.3095 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962824 NA NA 0.311682 0.390011 NA 0.268 NA 7.3761513 914 12 9232268 9232268 T C exonic A2M NA nonsynonymous SNV A2M:NM_000014:exon24:c.A2998G:p.I1000V exonic ENSG00000175899 NA nonsynonymous SNV ENSG00000175899:ENST00000318602:exon24:c.A2998G:p.I1000V NA NA 12p13.31 NA NA NA NA rs669 0.27 0.27 0.244 0.254393 0.3191 0.0823 0.3919 0.329 0.1667 0.33 0.07 0.4 0.29 0.3102 0.4 0.17 T 0.019 B 0.02 B 0.049 N 1.000 P 1.29 L 1.21 T -0.937 T 0.000 T 0.045 0.738 7.92 0.089 -0.137 0.910 5.746 0.738315 NA 0.14 0.32821 0.301956 NA 0.348 CLINSIG=non-pathogenic|other;CLNDBN=ALPHA-2-MACROGLOBULIN_POLYMORPHISM|Alzheimer_disease\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000019801.1|RCV000019802.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.3758234 914 19 52496149 52496149 C T exonic ZNF615 NA nonsynonymous SNV ZNF615:NM_198480:exon6:c.G2180A:p.R727K,ZNF615:NM_001199324:exon7:c.G2213A:p.R738K exonic ENSG00000197619 NA nonsynonymous SNV ENSG00000197619:ENST00000391795:exon4:c.G2195A:p.R732K,ENSG00000197619:ENST00000376716:exon6:c.G2180A:p.R727K,ENSG00000197619:ENST00000594083:exon6:c.G2213A:p.R738K,ENSG00000197619:ENST00000602063:exon6:c.G2180A:p.R727K,ENSG00000197619:ENST00000598071:exon7:c.G2213A:p.R738K NA NA 19q13.41 NA NA NA NA rs16983353 0.41 0.41 0.415 0.477436 0.3131 0.3948 0.3977 0.6074 0.6125 0.33 0.36 0.4 0.6 0.3671 0.6 0.14 T 0.0 B 0.0 B . . 1.000 P -0.14 N 1.32 T -0.958 T 0.000 T 0.02 0.644 7.455 2.5 0.108 -0.207 6.112 0.643567 NA 0.28 0.277442 0.580118 ID=COSM148710,COSM148709;OCCURENCE=1(stomach) 0.457 NA 7.3756914 914 19 52497943 52497943 G A exonic ZNF615 NA nonsynonymous SNV ZNF615:NM_198480:exon6:c.C386T:p.T129M,ZNF615:NM_001199324:exon7:c.C419T:p.T140M exonic ENSG00000197619 NA nonsynonymous SNV ENSG00000197619:ENST00000391795:exon4:c.C401T:p.T134M,ENSG00000197619:ENST00000376716:exon6:c.C386T:p.T129M,ENSG00000197619:ENST00000593650:exon6:c.C407T:p.T136M,ENSG00000197619:ENST00000594083:exon6:c.C419T:p.T140M,ENSG00000197619:ENST00000602063:exon6:c.C386T:p.T129M,ENSG00000197619:ENST00000598071:exon7:c.C419T:p.T140M NA NA 19q13.41 NA Name=KAP1 NA NA rs10500311 0.41 0.41 0.414 0.476837 0.3121 0.3929 0.3977 0.6074 0.6125 0.33 0.36 0.4 0.6 0.3675 0.6 0.21 T 0.005 B 0.004 B . . 1.000 P 0 N 3.15 T -1.019 T 0.000 T 0.028 -0.301 2.565 1.3 0.341 0.558 4.163 -0.300886 NA 0.23 0.27814 0.579891 ID=COSM148713,COSM148714;OCCURENCE=1(stomach) 0.457 NA 7.3755934 914 8 124710729 124710729 C T exonic ANXA13 NA nonsynonymous SNV ANXA13:NM_004306:exon4:c.G257A:p.R86H,ANXA13:NM_001003954:exon5:c.G380A:p.R127H exonic ENSG00000104537 NA nonsynonymous SNV ENSG00000104537:ENST00000419625:exon4:c.G257A:p.R86H,ENSG00000104537:ENST00000520519:exon4:c.G170A:p.R57H,ENSG00000104537:ENST00000262219:exon5:c.G380A:p.R127H NA NA 8q24.13 NA NA NA NA rs2294013 0.24 0.24 0.252 0.234026 0.34 0.1935 0.2133 0.2118 0.2117 0.33 0.16 0.25 0.21 0.2816 0.34 0.03 D 0.021 B 0.016 B 0.007 N 1.000 P 1.245 L 3.56 T -0.942 T 0.000 T 0.114 2.358 13.84 -0.199 0.030 0.044 6.870 2.358382 2.358382 0.15 0.336628 0.213118 NA 0.239 NA 7.3751054 915 6 25732794 25732794 G A ncRNA_exonic HIST1H2APS1 NA NA NA ncRNA_exonic ENSG00000216436 NA NA NA Score=352;Name=lod=36 NA 6p22.2 NA Name=CTCF Name=3 NA rs12192077 0.38 0.38 0.316 0.348642 0.2922 0.6875 0.4366 0.0976 0.3344 0.29 0.74 0.4 0.1 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870058 NA NA NA NA NA 0.246 NA 7.3744666 915 3 100354524 100354524 A G exonic GPR128 NA nonsynonymous SNV GPR128:NM_032787:exon5:c.A451G:p.K151E exonic ENSG00000144820 NA nonsynonymous SNV ENSG00000144820:ENST00000273352:exon5:c.A451G:p.K151E NA NA 3q12.2 NA NA NA NA rs1144122 0.18 0.18 0.191 0.152157 0.3598 0.0159 0.1758 0.1097 0.1196 0.36 0.01 0.19 0.11 0.2561 0.36 0.96 T 0.0 B 0.0 B 0.094 N 1.000 P -0.345 N 1.17 T -1.002 T 0.000 T 0.041 -0.888 0.464 -1.43 -0.594 -2.015 5.643 -0.887513 NA 1 0.343488 0.167499 NA 0.348 NA 7.3739454 915 17 72860253 72860253 A G intronic FDXR NA NA NA exonic ENSG00000161513 NA nonsynonymous SNV ENSG00000161513:ENST00000455107:exon10:c.T887C:p.L296P NA NA 17q25.1 NA NA NA NA rs552432 0.32 0.32 0.295 0.286941 0.2664 0.4673 0.1816 0.2753 0.2127 0.28 0.49 0.19 0.28 0.2657 0.49 . . . . . . . . 1.000 P . . 2.26 T -0.923 T 0.000 T 0.053 -1.023 0.229 2.75 0.395 1.039 6.353 -1.022611 NA 0.17 0.260698 0.264639 NA 0.283 NA 7.3738687 915 9 100672338 100672338 C T exonic C9orf156 NA nonsynonymous SNV C9orf156:NM_016481:exon4:c.G970A:p.V324M exonic ENSG00000136932 NA nonsynonymous SNV ENSG00000136932:ENST00000375118:exon1:c.G532A:p.V178M,ENSG00000136932:ENST00000375119:exon4:c.G970A:p.V324M NA NA 9q22.33 NA NA NA NA rs2282192 0.55 0.55 0.573 0.589257 0.2704 0.7788 0.4553 0.7935 0.5409 0.28 0.78 0.42 0.79 0.4181 0.79 0.13 T 0.029 B 0.009 B 0.741 N 1.000 P 1.175 L 0.84 T -0.961 T 0.000 T 0.026 1.36 10.47 -3.42 -0.506 -0.162 1.555 1.360029 1.360029 0.12 0.271163 0.708352 ID=COSM1582998;OCCURENCE=1(meninges) 0.471 NA 7.3736704 915 10 121586882 121586882 A G exonic INPP5F NA nonsynonymous SNV INPP5F:NM_001243194:exon6:c.A1159G:p.N387D,INPP5F:NM_014937:exon20:c.A2989G:p.N997D exonic ENSG00000198825 NA nonsynonymous SNV ENSG00000198825:ENST00000369080:exon6:c.A1159G:p.N387D,ENSG00000198825:ENST00000361976:exon20:c.A2989G:p.N997D NA NA 10q26.11 NA NA NA NA rs3188055 0.29 0.29 0.287 0.26897 0.337 0.1796 0.2824 0.2678 0.2832 0.33 0.18 0.31 0.32 0.2927 0.37 0.22 T 0.0 B 0.001 B 0.622 N 1.000 P 1.39 L 1.18 T -0.987 T 0.000 T 0.018 -1.003 0.257 1.93 0.141 1.099 5.670 -1.00258 NA 0.15 0.331279 0.264185 ID=COSM147061;OCCURENCE=1(stomach) 0.268 NA 7.3723544 915 9 114484837 114484837 G T exonic C9orf84 NA synonymous SNV C9orf84:NM_001080551:exon11:c.C1674A:p.L558L,C9orf84:NM_173521:exon13:c.C1791A:p.L597L exonic ENSG00000165181 NA synonymous SNV ENSG00000165181:ENST00000394777:exon11:c.C1674A:p.L558L,ENSG00000165181:ENST00000394779:exon11:c.C1674A:p.L558L,ENSG00000165181:ENST00000318737:exon13:c.C1791A:p.L597L,ENSG00000165181:ENST00000374287:exon15:c.C1791A:p.L597L Score=476;Name=lod=115 NA 9q31.3 Score=767;Name=V$STAT5A_02 NA NA NA rs62569959 0.08 0.08 0.081 0.0978435 0.1034 0.1131 0.049 0.0008 0.2423 0.11 0.12 0.07 0.002 0.1034 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.270429 NA NA 0.088023 0.016795 NA 0.051 NA 7.3718436 915 8 86057707 86057707 A G exonic LRRCC1 NA synonymous SNV LRRCC1:NM_033402:exon19:c.A3060G:p.Q1020Q exonic ENSG00000133739 NA synonymous SNV ENSG00000133739:ENST00000414626:exon18:c.A3000G:p.Q1000Q,ENSG00000133739:ENST00000360375:exon19:c.A3060G:p.Q1020Q Score=440;Name=lod=82 NA 8q21.2 Score=902;Name=V$CEBP_Q2 NA NA NA rs62525428 0.05 0.05 0.031 0.0571086 0.0905 0.0159 0.0389 0.0083 0.1442 0.1 0.01 0.04 0.01 0.0948 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266984 NA NA 0.110509 0.019624 NA 0.029 NA 7.3708576 915 11 82880341 82880341 G A exonic PCF11 NA synonymous SNV PCF11:NM_015885:exon8:c.G2964A:p.Q988Q exonic ENSG00000165494 NA synonymous SNV ENSG00000165494:ENST00000298281:exon8:c.G2964A:p.Q988Q Score=686;Name=lod=818 NA 11q14.1 Score=858;Name=V$TAL1BETAITF2_01 NA NA NA rs12284052 0.2 0.2 0.212 0.244808 0.0835 0.0496 0.1167 0.6657 0.1339 0.08 0.05 0.12 0.62 0.1246 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.646648 NA NA 0.088015 0.539666 NA 0.275 NA 7.3705516 915 16 55536727 55536727 C T exonic MMP2 NA synonymous SNV MMP2:NM_001127891:exon12:c.C1656T:p.F552F,MMP2:NM_004530:exon12:c.C1806T:p.F602F exonic ENSG00000087245 NA synonymous SNV ENSG00000087245:ENST00000570283:exon6:c.C681T:p.F227F,ENSG00000087245:ENST00000219070:exon12:c.C1806T:p.F602F,ENSG00000087245:ENST00000437642:exon12:c.C1656T:p.F552F,ENSG00000087245:ENST00000543485:exon12:c.C1578T:p.F526F,ENSG00000087245:ENST00000570308:exon13:c.C1578T:p.F526F Score=582;Name=lod=309 NA 16q12.2 NA Name=TCF4 Name=117 NA rs14070 0.34 0.34 0.312 0.303914 0.4533 0.246 0.4769 0.1505 0.2945 0.48 0.27 0.44 0.16 0.395 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.190802 NA NA 0.448023 0.206779 NA 0.254 NA 7.3703436 915 18 7008583 7008583 A C exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon28:c.T4026G:p.V1342V exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon28:c.T4026G:p.V1342V Score=381;Name=lod=47 NA 18p11.31 Score=869;Name=V$NF1_Q6 NA NA NA rs73938538 0.15 0.15 0.159 0.171725 0.0835 0.1091 0.1556 0.3411 0.1094 0.09 0.09 0.15 0.34 0.1249 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.191585 NA NA 0.090116 0.285066 ID=COSM148382;OCCURENCE=1(stomach) 0.217 NA 7.3681506 915 12 9317784 9317784 A G exonic PZP NA nonsynonymous SNV PZP:NM_002864:exon19:c.T2438C:p.V813A exonic ENSG00000126838 NA nonsynonymous SNV ENSG00000126838:ENST00000381997:exon16:c.T2045C:p.V682A,ENSG00000126838:ENST00000261336:exon19:c.T2438C:p.V813A NA NA 12p13.31 NA NA NA NA rs2277413 0.34 0.34 0.35 0.386182 0.3419 0.5357 0.2421 0.3411 0.4407 0.28 0.49 0.27 0.28 0.3295 0.49 1 T 0.019 B 0.013 B 0.389 N 1.000 P -0.555 N 1.83 T -0.940 T 0.000 T 0.025 -2.442 0.003 -0.929 0.004 -1.395 3.032 -2.442208 NA 1 0.295 0.332274 NA 0.254 NA 7.3669334 915 8 144992361 144992361 T C exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.A11586G:p.P3862P,PLEC:NM_201379:exon32:c.A11562G:p.P3854P,PLEC:NM_201380:exon32:c.A12039G:p.P4013P,PLEC:NM_201381:exon32:c.A11532G:p.P3844P,PLEC:NM_201382:exon32:c.A11628G:p.P3876P,PLEC:NM_201383:exon32:c.A11640G:p.P3880P,PLEC:NM_201384:exon32:c.A11628G:p.P3876P,PLEC:NM_000445:exon33:c.A11709G:p.P3903P exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.A12039G:p.P4013P,ENSG00000178209:ENST00000345136:exon32:c.A11628G:p.P3876P,ENSG00000178209:ENST00000354589:exon32:c.A11628G:p.P3876P,ENSG00000178209:ENST00000354958:exon32:c.A11562G:p.P3854P,ENSG00000178209:ENST00000356346:exon32:c.A11586G:p.P3862P,ENSG00000178209:ENST00000357649:exon32:c.A11640G:p.P3880P,ENSG00000178209:ENST00000398774:exon32:c.A11532G:p.P3844P,ENSG00000178209:ENST00000527096:exon32:c.A11697G:p.P3899P,ENSG00000178209:ENST00000436759:exon33:c.A11709G:p.P3903P Score=389;Name=lod=51 NA 8q24.3 NA Name=Pol2 NA NA rs7822511 0.46 0.46 0.48 0.478235 0.4284 0.1696 0.3804 0.8926 0.3569 0.42 0.19 0.41 0.87 0.4275 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.556818 NA NA 0.443854 0.839064 NA 0.449 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078838.3;CLNDSDB=.;CLNDSDBID=. 7.3669126 915 14 23858232 23858232 C T exonic MYH6 NA synonymous SNV MYH6:NM_002471:exon29:c.G4011A:p.S1337S exonic ENSG00000197616 NA synonymous SNV ENSG00000197616:ENST00000356287:exon28:c.G4011A:p.S1337S,ENSG00000197616:ENST00000405093:exon29:c.G4011A:p.S1337S NA NA 14q11.2 Score=923;Name=V$TCF11_01 NA NA NA rs451794 0.05 0.05 0.057 0.0347444 0.1064 NA 0.0432 0.0083 0.0266 0.11 NA 0.05 0.01 0.0766 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785064 NA NA 0.117209 0.024739 NA 0.036 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037494.1;CLNDSDB=.;CLNDSDBID=. 7.3664576 915 2 69049941 69049941 T C exonic ARHGAP25 NA nonsynonymous SNV ARHGAP25:NM_001166276:exon9:c.T1649C:p.M550T,ARHGAP25:NM_001166277:exon9:c.T1550C:p.M517T,ARHGAP25:NM_014882:exon9:c.T1646C:p.M549T,ARHGAP25:NM_001007231:exon10:c.T1670C:p.M557T exonic ENSG00000163219 NA nonsynonymous SNV ENSG00000163219:ENST00000479844:exon4:c.T749C:p.M250T,ENSG00000163219:ENST00000409030:exon9:c.T1646C:p.M549T,ENSG00000163219:ENST00000409220:exon9:c.T1649C:p.M550T,ENSG00000163219:ENST00000467265:exon9:c.T1550C:p.M517T,ENSG00000163219:ENST00000295381:exon10:c.T1667C:p.M556T,ENSG00000163219:ENST00000409202:exon10:c.T1670C:p.M557T Score=325;Name=lod=28 NA 2p13.3 NA NA NA NA rs10177248 0.37 0.37 0.375 0.320088 0.335 0.4097 0.3213 0.3525 0.1677 0.31 0.49 0.27 0.39 0.3141 0.49 0.42 T 0.0 B 0.0 B 0.781 N 0.000 P 0.205 N 2.89 T -0.910 T 0.000 T 0.266 -0.758 0.793 -1.08 -0.347 -0.142 9.614 -0.758089 NA 1 0.318953 0.358311 NA 0.319 NA 7.3652804 916 20 61834092 61834092 G A exonic YTHDF1 NA synonymous SNV YTHDF1:NM_017798:exon4:c.C1200T:p.D400D exonic ENSG00000149658 NA synonymous SNV ENSG00000149658:ENST00000370333:exon2:c.C1050T:p.D350D,ENSG00000149658:ENST00000370339:exon4:c.C1200T:p.D400D Score=598;Name=lod=358 NA 20q13.33 Score=856;Name=V$CREB_02 NA NA NA rs41282994 0.05 0.05 0.053 0.0561102 0.1153 0.001 0.0648 0.0038 0.1166 0.11 0.0017 0.09 0.002 0.0841 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624777 NA NA 0.103023 0.021108 NA 0.08 NA 7.3642436 916 22 42523943 42523943 A G exonic CYP2D6 NA nonsynonymous SNV CYP2D6:NM_001025161:exon5:c.T733C:p.C245R,CYP2D6:NM_000106:exon6:c.T886C:p.C296R exonic ENSG00000100197 NA nonsynonymous SNV ENSG00000100197:ENST00000359033:exon5:c.T733C:p.C245R,ENSG00000100197:ENST00000360608:exon6:c.T886C:p.C296R,ENSG00000100197:ENST00000389970:exon7:c.T886C:p.C296R NA NA 22q13.2 NA NA NA NA rs16947 0.66 0.66 0.634 0.640775 0.6571 0.8601 0.6729 0.4463 0.638 0.66 0.85 0.69 0.41 0.6567 0.85 . . 0.0 B 0.001 B 0.605 N 1.000 P . . -0.14 T -0.980 T 0.000 T 0.343 -0.852 0.545 -0.156 -0.119 -1.200 9.506 -0.851746 NA 1 0.657282 0.486566 ID=COSM1130422,COSM1130423;OCCURENCE=1(prostate) 0.594 CLINSIG=pathogenic;CLNDBN=Debrisoquine\x2c_ultrarapid_metabolism_of;CLNREVSTAT=single;CLNACC=RCV000018391.26;CLNDSDB=MedGen;CLNDSDBID=C1837157 7.3622514 916 10 45953767 45953767 A G exonic MARCH8 NA nonsynonymous SNV MARCH8:NM_001002266:exon7:c.T796C:p.Y266H,MARCH8:NM_145021:exon7:c.T796C:p.Y266H,MARCH8:NM_001002265:exon8:c.T796C:p.Y266H exonic ENSG00000165406 NA nonsynonymous SNV ENSG00000165406:ENST00000319836:exon7:c.T796C:p.Y266H,ENSG00000165406:ENST00000395769:exon7:c.T796C:p.Y266H,ENSG00000165406:ENST00000395771:exon8:c.T796C:p.Y266H,ENSG00000165406:ENST00000453424:exon8:c.T1642C:p.Y548H NA NA 10q11.21 NA NA NA NA rs7908745 0.31 0.31 0.308 0.302915 0.3529 0.1706 0.3703 0.3328 0.2996 0.35 0.18 0.35 0.35 0.3146 0.35 0.57 T 0.0 B 0.0 B 0.006 N 1.000 P 0 N 2.81 T -0.917 T 0.000 T 0.25 0.498 6.703 0.455 -0.157 2.648 5.541 0.498336 NA 0.56 0.30407 0.352701 NA 0.246 NA 7.3617634 916 9 109687288 109687288 T C exonic ZNF462 NA synonymous SNV ZNF462:NM_021224:exon3:c.T1095C:p.Y365Y exonic ENSG00000148143 NA synonymous SNV ENSG00000148143:ENST00000277225:exon3:c.T1095C:p.Y365Y,ENSG00000148143:ENST00000457913:exon3:c.T1095C:p.Y365Y Score=646;Name=lod=564 NA 9q31.2 Score=890;Name=V$E4BP4_01 NA NA NA rs1000152 0.19 0.19 0.189 0.197284 0.0895 0.129 0.17 0.4297 0.0838 0.08 0.13 0.16 0.44 0.1222 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118228 NA NA 0.093721 0.370858 ID=COSM1459160;OCCURENCE=1(large_intestine) 0.275 NA 7.3612456 916 5 60999768 60999768 C T exonic C5orf64 NA nonsynonymous SNV C5orf64:NM_173667:exon4:c.C301T:p.R101W exonic ENSG00000178722 NA nonsynonymous SNV ENSG00000178722:ENST00000313303:exon3:c.C301T:p.R101W,ENSG00000178722:ENST00000505642:exon4:c.C301T:p.R101W NA NA 5q12.1 NA NA NA NA rs436696 0.22 0.22 0.237 0.21845 0.329 0.003 0.2061 0.3411 0.1697 0.32 0.0017 0.23 0.33 0.2958 0.35 0 D 0.0 B 0.0 B 0.995 N 1.000 P -0.345 N 1.03 T -0.971 T 0.000 T 0.06 0.148 4.794 1.61 0.398 0.239 5.644 0.147611 NA 0.11 0.3485 0.314987 ID=COSM1438081;OCCURENCE=1(large_intestine) 0.232 NA 7.3600334 916 3 51978220 51978220 A G exonic PARP3 NA nonsynonymous SNV PARP3:NM_001003931:exon3:c.A320G:p.H107R,PARP3:NM_005485:exon3:c.A299G:p.H100R exonic ENSG00000041880 NA nonsynonymous SNV ENSG00000041880:ENST00000498510:exon2:c.A299G:p.H100R,ENSG00000041880:ENST00000398755:exon3:c.A320G:p.H107R,ENSG00000041880:ENST00000431474:exon3:c.A299G:p.H100R,ENSG00000041880:ENST00000417220:exon4:c.A299G:p.H100R Score=469;Name=lod=107 NA 3p21.2 NA NA NA NA rs28547534 1 1 0.995 0.997604 0.992 1 0.9986 1 0.9969 0.99 1 0.99 1 0.9927 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.375 N 2.71 T -1.000 T 0.000 T 0.43 -1.253 0.05 3.14 0.138 2.373 7.582 -1.252529 NA 1 0.989076 0.99807 NA 0.971 NA 7.3595574 916 20 13071816 13071816 C T exonic SPTLC3 NA synonymous SNV SPTLC3:NM_018327:exon5:c.C693T:p.F231F exonic ENSG00000172296 NA synonymous SNV ENSG00000172296:ENST00000378194:exon5:c.C693T:p.F231F,ENSG00000172296:ENST00000399002:exon5:c.C693T:p.F231F Score=638;Name=lod=524 NA 20p12.1 Score=847;Name=V$CEBPB_02 NA NA NA rs6109692 0.08 0.08 0.085 0.0740815 0.1054 0.0694 0.0836 0.0567 0.0634 0.1 0.06 0.09 0.07 0.0943 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233243 1.233243 NA 0.107584 0.064834 NA 0.101 NA 7.3593826 916 3 50357869 50357869 A C exonic HYAL2 NA nonsynonymous SNV HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A exonic ENSG00000068001 NA nonsynonymous SNV ENSG00000068001:ENST00000447092:exon1:c.T52G:p.S18A,ENSG00000068001:ENST00000357750:exon2:c.T52G:p.S18A,ENSG00000068001:ENST00000395139:exon2:c.T52G:p.S18A,ENSG00000068001:ENST00000415028:exon2:c.T52G:p.S18A,ENSG00000068001:ENST00000424190:exon2:c.T52G:p.S18A,ENSG00000068001:ENST00000426286:exon2:c.T52G:p.S18A,ENSG00000068001:ENST00000458018:exon2:c.T52G:p.S18A,ENSG00000068001:ENST00000428028:exon3:c.T52G:p.S18A,ENSG00000068001:ENST00000442581:exon3:c.T52G:p.S18A Score=410;Name=lod=62 NA 3p21.31 NA NA NA NA rs709210 0.77 0.77 0.73 0.736022 0.6501 0.7917 0.8156 0.9319 0.4458 0.64 0.79 0.8 0.95 0.6796 0.95 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.11 N 2.62 T -0.950 T 0.000 T 0.199 1.416 10.67 3.74 0.878 0.175 5.350 1.416274 1.416274 1 0.644452 0.882901 ID=COSM1162360;OCCURENCE=1(pancreas) 0.862 NA 7.3591814 916 2 21232804 21232804 G A exonic APOB NA synonymous SNV APOB:NM_000384:exon26:c.C6936T:p.D2312D exonic ENSG00000084674 NA synonymous SNV ENSG00000084674:ENST00000233242:exon26:c.C6936T:p.D2312D NA NA 2p24.1 Score=790;Name=V$CART1_01 Name=Pol2 NA NA rs1041968 0.22 0.22 0.228 0.249201 0.4423 0.0615 0.3775 0.2095 0.2065 0.33 0.07 0.33 0.13 0.3891 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.481274 NA NA 0.478837 0.234226 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116388.2;CLNDSDB=.;CLNDSDBID=. 7.3564296 916 13 95364046 95364046 C G exonic SOX21 NA synonymous SNV SOX21:NM_007084:exon1:c.G258C:p.L86L exonic ENSG00000125285 NA synonymous SNV ENSG00000125285:ENST00000376945:exon1:c.G258C:p.L86L Score=805;Name=lod=2482 NA 13q32.1 NA Name=SUZ12,Egr-1 Name=47 NA rs1060474 0.42 0.42 0.382 0.380391 0.4692 0.4692 0.428 0.267 0.317 0.46 0.49 0.46 0.27 0.4185 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045994 NA NA 0.42314 0.302769 NA 0.101 NA 7.3558266 916 1 145556986 145556986 C T intronic ANKRD35,NBPF10 NA NA NA intronic ENSG00000198483 NA NA NA Score=526;Name=lod=183 NA 1q21.1 Score=873;Name=V$BACH1_01 Name=eGFP-FOS,c-Myc,eGFP-JunD,c-Jun,GATA-1 Name=26 NA rs56110740 0.22 0.22 0.172 0.197085 0.3221 0.1409 0.3199 0.1195 0.1442 0.3 0.11 0.33 0.14 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.376187 2.376187 NA 0.322753 0.168353 NA 0.188 NA 7.355147 917 1 112525085 112525085 G A exonic KCND3 NA synonymous SNV KCND3:NM_004980:exon2:c.C264T:p.P88P,KCND3:NM_172198:exon2:c.C264T:p.P88P exonic ENSG00000171385 NA synonymous SNV ENSG00000171385:ENST00000369697:exon1:c.C264T:p.P88P,ENSG00000171385:ENST00000302127:exon2:c.C264T:p.P88P,ENSG00000171385:ENST00000315987:exon2:c.C264T:p.P88P NA NA 1p13.2 Score=704;Name=V$BRACH_01 NA NA NA rs17221819 0.05 0.05 0.061 0.0471246 0.1034 0.002 0.0519 0.0356 0.0481 0.1 NA 0.07 0.03 0.0886 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12862 NA NA 0.120465 0.0463 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117317.2;CLNDSDB=.;CLNDSDBID=. 7.3542016 917 10 101502968 101502968 A G exonic CUTC NA synonymous SNV CUTC:NM_015960:exon4:c.A252G:p.P84P exonic ENSG00000119929 NA synonymous SNV ENSG00000119929:ENST00000370472:exon4:c.A63G:p.P21P,ENSG00000119929:ENST00000370476:exon4:c.A252G:p.P84P,ENSG00000119929:ENST00000471520:exon4:c.A252G:p.P84P Score=728;Name=lod=1208 NA 10q24.2 Score=883;Name=V$NMYC_01 NA NA NA rs3740076 0.07 0.07 0.048 0.0638978 0.1083 0.0228 0.1499 0.0053 0.0787 0.1 0.03 0.14 0.01 0.0963 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.387209 1.387209 NA 0.107907 0.018384 NA 0.043 NA 7.3541596 917 13 100635377 100635377 C T exonic ZIC2 NA synonymous SNV ZIC2:NM_007129:exon1:c.C1059T:p.H353H exonic ENSG00000043355 NA synonymous SNV ENSG00000043355:ENST00000376335:exon1:c.C1059T:p.H353H Score=662;Name=lod=652 NA 13q32.3 NA NA NA NA rs1831992 0.06 0.06 0.051 0.0417332 0.1203 NA 0.0893 0.0045 0.0204 0.11 NA 0.1 0.01 0.0799 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741398 NA NA 0.112791 0.022696 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081471.1;CLNDSDB=.;CLNDSDBID=. 7.3536756 917 19 14829749 14829749 C T exonic ZNF333 NA nonsynonymous SNV ZNF333:NM_032433:exon12:c.C1610T:p.A537V exonic ENSG00000160961 NA nonsynonymous SNV ENSG00000160961:ENST00000292530:exon12:c.C1610T:p.A537V,ENSG00000160961:ENST00000536363:exon13:c.C1283T:p.A428V NA NA 19p13.12 NA Name=SETDB1,ZNF274 NA NA rs3764626 0.43 0.43 0.412 0.48123 0.3022 0.619 0.4914 0.438 0.5746 0.32 0.59 0.41 0.43 0.382 0.59 0.2 T 0.373 B 0.066 B . . 1.000 P 0.57 N 3.17 T -1.038 T 0.000 T 0.07 3.029 16.1 0.305 -0.096 -0.446 12.172 3.02861 3.02861 0.22 0.29686 0.401498 NA 0.391 NA 7.3522734 917 7 5257573 5257573 G A exonic WIPI2 NA synonymous SNV WIPI2:NM_001033520:exon4:c.G420A:p.P140P,WIPI2:NM_001033519:exon6:c.G543A:p.P181P,WIPI2:NM_016003:exon6:c.G543A:p.P181P,WIPI2:NM_001033518:exon7:c.G597A:p.P199P,WIPI2:NM_015610:exon7:c.G597A:p.P199P exonic ENSG00000157954 NA synonymous SNV ENSG00000157954:ENST00000484262:exon4:c.G420A:p.P140P,ENSG00000157954:ENST00000382384:exon6:c.G543A:p.P181P,ENSG00000157954:ENST00000401525:exon6:c.G543A:p.P181P,ENSG00000157954:ENST00000288828:exon7:c.G597A:p.P199P,ENSG00000157954:ENST00000404704:exon7:c.G597A:p.P199P Score=517;Name=lod=168 NA 7p22.1 NA Name=EBF NA NA rs1134489 0.05 0.05 0.051 0.0473243 0.1044 0.002 0.1037 0.0076 0.0491 0.09 0.0017 0.12 0.01 0.0842 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07703 NA NA 0.126163 0.029505 NA 0.036 NA 7.3519036 917 10 27688109 27688109 T C exonic PTCHD3 NA nonsynonymous SNV PTCHD3:NM_001034842:exon4:c.A1418G:p.D473G exonic ENSG00000182077 NA nonsynonymous SNV ENSG00000182077:ENST00000438700:exon4:c.A1418G:p.D473G NA NA 10p12.1 NA NA NA NA rs2429485 0.53 0.53 0.488 0.55012 0.6829 0.37 0.5202 0.5257 0.6534 0.68 0.31 0.56 0.54 0.6193 0.68 0.4 T 0.001 B 0.008 B 0.601 N 1.000 P 0.47 N -2.01 D -0.938 T 0.000 T 0.04 -2.108 0.006 -0.118 -0.224 2.124 1.184 -2.107772 NA NA 0.68093 0.534498 NA 0.558 NA 7.3502034 917 5 68715310 68715310 C T exonic MARVELD2 NA nonsynonymous SNV MARVELD2:NM_001038603:exon2:c.C98T:p.T33I,MARVELD2:NM_001244734:exon2:c.C98T:p.T33I exonic ENSG00000152939 NA nonsynonymous SNV ENSG00000152939:ENST00000413223:exon1:c.C98T:p.T33I,ENSG00000152939:ENST00000436532:exon1:c.C98T:p.T33I,ENSG00000152939:ENST00000325631:exon2:c.C98T:p.T33I,ENSG00000152939:ENST00000454295:exon2:c.C98T:p.T33I,ENSG00000152939:ENST00000512803:exon2:c.C98T:p.T33I,ENSG00000152939:ENST00000515844:exon2:c.C98T:p.T33I NA NA 5q13.2 NA NA NA NA rs1185246 0.48 0.48 0.48 0.483027 0.494 0.4881 0.5389 0.4153 0.5184 0.49 0.5 0.49 0.42 0.4997 0.5 0.12 T 0.779 P 0.277 B 0.262 N 1.000 P 1.245 L 1.49 T -0.946 T 0.000 T 0.221 0.376 6.043 0.193 0.017 -0.490 9.938 0.376219 NA 0.11 0.489535 0.424421 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036814.1;CLNDSDB=.;CLNDSDBID=. 7.3500984 917 5 79025317 79025317 A G exonic CMYA5 NA synonymous SNV CMYA5:NM_153610:exon2:c.A729G:p.Q243Q exonic ENSG00000164309 NA synonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A729G:p.Q243Q Score=547;Name=lod=222 NA 5q14.1 Score=912;Name=V$TATA_C NA NA NA rs1366270 0.29 0.29 0.347 0.277356 0.0815 0.3621 0.085 0.5961 0.0971 0.08 0.41 0.09 0.62 0.1485 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021538 NA NA 0.087224 0.511577 NA 0.319 NA 7.3494426 917 17 38024626 38024626 C T exonic ZPBP2 NA synonymous SNV ZPBP2:NM_198844:exon1:c.C19T:p.L7L,ZPBP2:NM_199321:exon1:c.C19T:p.L7L exonic ENSG00000186075 NA synonymous SNV ENSG00000186075:ENST00000348931:exon1:c.C19T:p.L7L,ENSG00000186075:ENST00000377940:exon1:c.C19T:p.L7L,ENSG00000186075:ENST00000583811:exon1:c.C19T:p.L7L,ENSG00000186075:ENST00000584588:exon1:c.C19T:p.L7L Score=428;Name=lod=73 NA 17q12 Score=709;Name=V$NRSF_01 Name=Pol2 NA NA rs11557466 0.33 0.33 0.316 0.290535 0.4722 0.2827 0.3415 0.115 0.3129 0.48 0.31 0.35 0.12 0.396 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818068 NA NA 0.449651 0.152746 NA 0.333 NA 7.3488156 917 1 152192978 152192978 T C exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1127G:p.Q376R exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.A1127G:p.Q376R NA NA 1q21.3 NA NA NA NA rs6587649 0.96 0.96 0.944 0.942292 1 0.999 0.9841 0.7905 1 1 1 0.99 0.81 0.9858 1 0.58 T 0.0 B 0.0 B . . 1.000 P 0 N 4.04 T -0.909 T 0.002 T 0.01 0.711 7.787 -8.53 -2.643 -1.539 8.919 0.710741 NA 0.83 0.999651 0.854063 NA 0.986 NA 7.3478824 917 3 113955164 113955164 T G exonic ZNF80 NA nonsynonymous SNV ZNF80:NM_007136:exon1:c.A758C:p.D253A exonic ENSG00000174255 NA nonsynonymous SNV ENSG00000174255:ENST00000308095:exon1:c.A758C:p.D253A,ENSG00000174255:ENST00000482457:exon1:c.A758C:p.D253A NA NA 3q13.31 NA NA NA NA rs3732782 0.68 0.68 0.69 0.694089 0.6849 0.5456 0.6009 0.8502 0.7117 0.68 0.57 0.59 0.86 0.6567 0.86 1 T 0.0 B 0.0 B . . 1.000 P -0.8 N 2.6 T -1.005 T 0.000 T 0.034 -1.34 0.03 2.14 0.321 -0.959 5.674 -1.340453 NA 1 0.644302 0.798684 NA 0.768 NA 7.3474314 917 15 28412872 28412872 G A exonic HERC2 NA synonymous SNV HERC2:NM_004667:exon68:c.C10515T:p.A3505A exonic ENSG00000128731 NA synonymous SNV ENSG00000128731:ENST00000261609:exon68:c.C10515T:p.A3505A Score=593;Name=lod=344 NA 15q13.1 Score=805;Name=V$PAX4_01 NA NA NA rs61756152 0.17 0.17 0.164 0.172524 0.1074 0.2946 0.2305 0.0908 0.183 0.1 0.32 0.23 0.08 0.128 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450211 NA NA 0.08407 0.097821 NA 0.13 NA 7.3471966 917 1 155408635 155408635 T C exonic ASH1L NA nonsynonymous SNV ASH1L:NM_018489:exon5:c.A5311G:p.T1771A exonic ENSG00000116539 NA nonsynonymous SNV ENSG00000116539:ENST00000368346:exon5:c.A5311G:p.T1771A,ENSG00000116539:ENST00000392403:exon5:c.A5311G:p.T1771A NA NA 1q22 NA NA NA NA rs4971053 0.95 0.95 0.946 0.948682 1 1 0.9827 0.8147 1 1 1 0.98 0.82 0.9869 1 0.09 T 0.0 B 0.0 B 0.000 N 0.000 P 0.345 N -2.27 D -0.875 T 0.217 T 0.017 1.328 10.36 4.31 0.809 2.263 5.856 1.328107 1.328107 0 0.999535 0.85951 NA 0.971 NA 7.3468984 917 9 98238379 98238379 A G exonic PTCH1 NA synonymous SNV PTCH1:NM_000264:exon12:c.T1665C:p.N555N,PTCH1:NM_001083602:exon12:c.T1467C:p.N489N,PTCH1:NM_001083603:exon12:c.T1662C:p.N554N,PTCH1:NM_001083604:exon12:c.T1212C:p.N404N,PTCH1:NM_001083605:exon12:c.T1212C:p.N404N,PTCH1:NM_001083606:exon12:c.T1212C:p.N404N,PTCH1:NM_001083607:exon12:c.T1212C:p.N404N exonic ENSG00000185920 NA synonymous SNV ENSG00000185920:ENST00000375271:exon6:c.T660C:p.N220N,ENSG00000185920:ENST00000375290:exon9:c.T1302C:p.N434N,ENSG00000185920:ENST00000331920:exon12:c.T1665C:p.N555N,ENSG00000185920:ENST00000375274:exon12:c.T1662C:p.N554N,ENSG00000185920:ENST00000418258:exon12:c.T1212C:p.N404N,ENSG00000185920:ENST00000421141:exon12:c.T1212C:p.N404N,ENSG00000185920:ENST00000429896:exon12:c.T1212C:p.N404N,ENSG00000185920:ENST00000430669:exon12:c.T1467C:p.N489N,ENSG00000185920:ENST00000437951:exon12:c.T1467C:p.N489N Score=491;Name=lod=132 NA 9q22.32 Score=719;Name=V$HOX13_01 NA NA NA rs1805155 0.12 0.12 0.133 0.111621 0.1093 0.1131 0.0764 0.1687 0.0603 0.12 0.12 0.08 0.14 0.1079 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.575148 1.575148 NA 0.103488 0.184521 NA 0.08 NA 7.3459786 917 6 348906 348906 G A intronic DUSP22 NA NA NA exonic ENSG00000112679 NA synonymous SNV ENSG00000112679:ENST00000604971:exon4:c.G264A:p.P88P,ENSG00000112679:ENST00000605315:exon4:c.G264A:p.P88P,ENSG00000112679:ENST00000603453:exon6:c.G264A:p.P88P,ENSG00000112679:ENST00000419235:exon7:c.G573A:p.P191P NA NA 6p25.3 NA NA NA NA rs11242812 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4882 0.46 . . . . . . . . 1.000 N . . . . -0.990 T 0.016 T . -1.077 0.166 -4.87 -1.120 -0.683 2.600 -1.076643 NA NA NA NA NA 0.471 NA 7.3451333 918 3 63982082 63982082 G A exonic ATXN7 NA nonsynonymous SNV ATXN7:NM_001128149:exon8:c.G2149A:p.V717M,ATXN7:NM_001177387:exon11:c.G2584A:p.V862M,ATXN7:NM_000333:exon12:c.G2584A:p.V862M exonic ENSG00000163635 NA nonsynonymous SNV ENSG00000163635:ENST00000522345:exon1:c.G97A:p.V33M,ENSG00000163635:ENST00000484332:exon8:c.G2149A:p.V717M,ENSG00000163635:ENST00000538065:exon10:c.G2584A:p.V862M,ENSG00000163635:ENST00000487717:exon11:c.G2584A:p.V862M,ENSG00000163635:ENST00000295900:exon12:c.G2584A:p.V862M,ENSG00000163635:ENST00000398590:exon12:c.G2584A:p.V862M NA NA 3p14.1 NA NA NA NA rs3774729 0.44 0.44 0.448 0.4377 0.334 0.4603 0.3429 0.6354 0.3211 0.34 0.5 0.35 0.59 0.3477 0.59 1 T 0.028 B 0.003 B 0.002 N 0.999 P -0.17 N 0.87 T -0.951 T 0.000 T 0.248 -0.626 1.225 -1.61 -0.467 -0.265 9.290 -0.625811 NA 1 0.307077 0.557801 ID=COSM1567156,COSM1567155;OCCURENCE=1(large_intestine) 0.384 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116488.2;CLNDSDB=.;CLNDSDBID=. 7.3445564 918 11 48387506 48387506 A G intergenic OR4C45,OR4A47 dist=13507;dist=122839 NA NA exonic ENSG00000176540 NA nonsynonymous SNV ENSG00000176540:ENST00000319813:exon1:c.T512C:p.V171A NA NA 11p11.2 NA Name=CTCF NA NA rs72898882 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4891 0.022 0.35 T . . . . 0.319 N 1.000 N . . 1.12 T -1.016 T 0.063 T 0.066 -0.746 0.828 -2.45 -0.265 -0.032 5.322 -0.746355 NA 0.42 NA NA NA 0.029 NA 7.3442334 918 21 37420650 37420650 G A exonic SETD4 NA synonymous SNV SETD4:NM_001007259:exon5:c.C252T:p.T84T,SETD4:NM_017438:exon5:c.C252T:p.T84T exonic ENSG00000185917 NA synonymous SNV ENSG00000185917:ENST00000399215:exon4:c.C252T:p.T84T,ENSG00000185917:ENST00000332131:exon5:c.C252T:p.T84T,ENSG00000185917:ENST00000399207:exon5:c.C252T:p.T84T,ENSG00000185917:ENST00000399208:exon5:c.C252T:p.T84T,ENSG00000185917:ENST00000424303:exon5:c.C252T:p.T84T,ENSG00000185917:ENST00000429161:exon5:c.C252T:p.T84T,ENSG00000185917:ENST00000399201:exon6:c.C180T:p.T60T,ENSG00000185917:ENST00000399205:exon6:c.C180T:p.T60T,ENSG00000185917:ENST00000399212:exon6:c.C180T:p.T60T,ENSG00000185917:ENST00000442559:exon6:c.C180T:p.T60T,ENSG00000185917:ENST00000446166:exon6:c.C180T:p.T60T Score=435;Name=lod=78 NA 21q22.12 Score=822;Name=V$GR_Q6 NA NA NA rs8738 0.13 0.13 0.117 0.124201 0.0805 0.2103 0.183 0.0076 0.1963 0.09 0.25 0.17 0.02 0.129 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290721 NA NA 0.113488 0.026101 NA 0.072 NA 7.3436786 918 14 21831419 21831419 C T exonic SUPT16H NA synonymous SNV SUPT16H:NM_007192:exon12:c.G1368A:p.R456R exonic ENSG00000092201 NA synonymous SNV ENSG00000092201:ENST00000216297:exon12:c.G1368A:p.R456R Score=621;Name=lod=446 NA 14q11.2 Score=701;Name=V$PPARG_02 NA NA NA rs61746713 0.05 0.05 0.047 0.0453275 0.1203 NA 0.0389 0.0076 0.0706 0.12 NA 0.04 0.01 0.0862 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882181 NA NA 0.119214 0.02769 NA 0.094 NA 7.3409526 918 6 31379817 31379817 T C exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon4:c.T707C:p.I236T,MICA:NM_001177519:exon4:c.T707C:p.I236T exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon3:c.T380C:p.I127T,ENSG00000204520:ENST00000449934:exon4:c.T707C:p.I236T NA NA 6p21.33 NA NA NA NA rs1140700 NA NA 0.384 0.582468 0.5089 0.4216 0.6182 0.7504 0.5716 NA NA NA NA 0.4836 0.59 1 T 0.003 B 0.004 B 0.300 N 1.000 P . . 4.31 T -0.953 T 0.001 T 0.182 -1.915 0.008 -2.39 -0.724 -0.209 0.278 -1.914931 NA 1 NA NA NA 0.514 NA 7.3408334 918 20 4163242 4163242 C T exonic SMOX NA synonymous SNV SMOX:NM_001270691:exon5:c.C1116T:p.F372F,SMOX:NM_175839:exon5:c.C1116T:p.F372F,SMOX:NM_175840:exon6:c.C957T:p.F319F,SMOX:NM_175842:exon6:c.C957T:p.F319F exonic ENSG00000088826 NA synonymous SNV ENSG00000088826:ENST00000457205:exon3:c.C687T:p.F229F,ENSG00000088826:ENST00000305958:exon5:c.C1116T:p.F372F,ENSG00000088826:ENST00000379460:exon5:c.C1116T:p.F372F,ENSG00000088826:ENST00000278795:exon6:c.C957T:p.F319F,ENSG00000088826:ENST00000339123:exon6:c.C957T:p.F319F Score=638;Name=lod=522 NA 20p13 Score=832;Name=V$TST1_01 NA NA NA rs28927676 0.06 0.06 0.053 0.0563099 0.1332 0.0238 0.0403 0.0061 0.09 0.14 0.02 0.05 0.01 0.086 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736327 NA NA 0.107558 0.021562 NA 0.043 NA 7.3399086 918 3 170724955 170724955 C T exonic SLC2A2 NA synonymous SNV SLC2A2:NM_000340:exon5:c.G594A:p.T198T exonic ENSG00000163581 NA synonymous SNV ENSG00000163581:ENST00000461867:exon2:c.G75A:p.T25T,ENSG00000163581:ENST00000382808:exon4:c.G237A:p.T79T,ENSG00000163581:ENST00000314251:exon5:c.G594A:p.T198T NA NA 3q26.2 Score=834;Name=V$ATF_01 NA NA NA rs5404 0.13 0.13 0.139 0.151558 0.1103 0.0159 0.1254 0.3086 0.1401 0.11 0.02 0.13 0.28 0.115 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232423 NA NA 0.101628 0.281888 NA 0.29 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118389.2;CLNDSDB=.;CLNDSDBID=. 7.3397386 918 10 105882765 105882765 A G exonic SFR1 NA nonsynonymous SNV SFR1:NM_001002759:exon2:c.A56G:p.D19G,SFR1:NM_145247:exon2:c.A17G:p.D6G exonic ENSG00000156384 NA nonsynonymous SNV ENSG00000156384:ENST00000336358:exon1:c.A242G:p.D81G,ENSG00000156384:ENST00000369727:exon2:c.A56G:p.D19G,ENSG00000156384:ENST00000369729:exon2:c.A17G:p.D6G NA NA 10q25.1 NA NA NA NA rs10786783 0.22 0.22 0.225 0.235224 0.161 0.2292 0.1427 0.3926 0.1708 0.15 0.23 0.16 0.36 0.174 0.36 0.12 T 0.705 P 0.439 B 0.340 N 1.000 P 1.1 L 0.32 T -1.016 T 0.000 T 0.119 2.448 14.14 0.86 0.032 0.609 5.917 2.447906 2.447906 0.1 0.158721 0.341126 NA 0.21 NA 7.3396124 918 19 50412417 50412417 G A exonic NUP62 NA synonymous SNV NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S exonic ENSG00000213024 NA synonymous SNV ENSG00000213024:ENST00000413454:exon2:c.C648T:p.S216S,ENSG00000213024:ENST00000422090:exon2:c.C648T:p.S216S,ENSG00000213024:ENST00000596217:exon2:c.C648T:p.S216S,ENSG00000213024:ENST00000352066:exon3:c.C648T:p.S216S,ENSG00000213024:ENST00000597029:exon3:c.C648T:p.S216S,ENSG00000213024:ENST00000597723:exon3:c.C648T:p.S216S Score=336;Name=lod=31 NA 19q13.33 NA Name=Egr-1,Pol2,FOSL1_(SC-183) Name=2 NA rs999583 0.86 0.86 0.841 0.860423 0.7783 0.9544 0.8473 0.9221 0.774 0.78 0.95 0.81 0.92 0.7919 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043378 NA NA 0.757907 0.904448 NA 0.775 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117865.2;CLNDSDB=.;CLNDSDBID=. 7.3385596 918 16 10995933 10995933 A G exonic CIITA NA nonsynonymous SNV CIITA:NM_000246:exon7:c.A520G:p.R174G exonic ENSG00000179583 NA nonsynonymous SNV ENSG00000179583:ENST00000324288:exon7:c.A520G:p.R174G,ENSG00000179583:ENST00000576601:exon7:c.A448G:p.R150G Score=251;Name=lod=14 NA 16p13.13 NA NA NA NA rs8046121 0.99 0.99 0.989 0.98722 0.999 1 0.9971 0.9539 1 1 1 1 0.96 0.9959 1 0.55 T 0.0 B 0.0 B . . 0.000 P -0.69 N -0.52 T -0.976 T 0.000 T 0.409 0.101 4.545 4.09 0.855 1.716 8.293 0.101201 NA 0.58 1 0.950159 NA 0.971 NA 7.3384334 918 1 17030504 17030504 T A ncRNA_exonic ESPNP NA NA NA ncRNA_exonic ENSG00000268869 NA NA NA Score=563;Name=lod=258 NA 1p36.13 NA Name=c-Myc,GATA-1,USF-1,USF1_(SC-8983),ZNF263 Name=20 NA rs601031 NA NA 0.252 NA NA NA NA NA NA NA NA NA NA 0.3292 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.670215 2.670215 NA NA NA NA 0.159 NA 7.3374666 918 4 2822467 2822467 G T exonic SH3BP2 NA synonymous SNV SH3BP2:NM_001122681:exon2:c.G123T:p.L41L,SH3BP2:NM_001145855:exon2:c.G207T:p.L69L,SH3BP2:NM_001145856:exon2:c.G294T:p.L98L,SH3BP2:NM_003023:exon2:c.G123T:p.L41L exonic ENSG00000087266 NA synonymous SNV ENSG00000087266:ENST00000356331:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000389838:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000435136:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000442312:exon2:c.G207T:p.L69L,ENSG00000087266:ENST00000452765:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000503393:exon2:c.G294T:p.L98L,ENSG00000087266:ENST00000504294:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000508385:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000511747:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000512014:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000513020:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000513095:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000515737:exon2:c.G123T:p.L41L,ENSG00000087266:ENST00000502260:exon3:c.G123T:p.L41L,ENSG00000087266:ENST00000503219:exon3:c.G123T:p.L41L Score=576;Name=lod=291 NA 4p16.3 Score=764;Name=V$HEN1_02 NA Name=5 NA rs231402 0.35 0.35 0.335 0.372005 0.4324 0.4603 0.487 0.1097 0.4918 0.41 0.41 0.46 0.12 0.4514 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.196596 NA NA 0.445918 0.162052 NA 0.341 NA 7.3369486 918 12 133778796 133778796 C T exonic ZNF268 NA nonsynonymous SNV ZNF268:NM_001165884:exon3:c.C100T:p.R34W,ZNF268:NM_001165883:exon4:c.C301T:p.R101W,ZNF268:NM_001165886:exon4:c.C196T:p.R66W,ZNF268:NM_001165885:exon5:c.C397T:p.R133W,ZNF268:NM_001165881:exon6:c.C524T:p.T175M,ZNF268:NM_001165882:exon6:c.C275T:p.T92M,ZNF268:NM_003415:exon6:c.C524T:p.T175M exonic ENSG00000090612 NA nonsynonymous SNV ENSG00000090612:ENST00000536899:exon3:c.C100T:p.R34W,ENSG00000090612:ENST00000537565:exon3:c.C41T:p.T14M,ENSG00000090612:ENST00000539248:exon4:c.C301T:p.R101W,ENSG00000090612:ENST00000542711:exon4:c.C196T:p.R66W,ENSG00000090612:ENST00000541211:exon5:c.C397T:p.R133W,ENSG00000090612:ENST00000228289:exon6:c.C524T:p.T175M,ENSG00000090612:ENST00000500625:exon6:c.C275T:p.T92M,ENSG00000090612:ENST00000536435:exon6:c.C524T:p.T175M NA NA 12q24.33 NA NA NA NA rs7975069 0.29 0.29 0.31 0.296925 0.3469 0.1111 0.2579 0.4478 0.2607 0.35 0.08 0.27 0.45 0.3188 0.45 . . 0.002 B 0.001 B . . 1.000 P 0.345 N 3.05 T -0.938 T 0.000 T 0.077 -1.409 0.022 -0.175 -0.449 -1.204 5.107 -1.408633 NA 0.24 0.330811 0.408043 NA 0.304 NA 7.3368224 918 17 42989088 42989088 C T exonic GFAP NA synonymous SNV GFAP:NM_001131019:exon5:c.G858A:p.R286R,GFAP:NM_001242376:exon5:c.G858A:p.R286R,GFAP:NM_002055:exon5:c.G858A:p.R286R exonic ENSG00000131095 NA synonymous SNV ENSG00000131095:ENST00000588316:exon4:c.G762A:p.R254R,ENSG00000131095:ENST00000253408:exon5:c.G858A:p.R286R,ENSG00000131095:ENST00000435360:exon5:c.G858A:p.R286R,ENSG00000131095:ENST00000586793:exon5:c.G858A:p.R286R,ENSG00000131095:ENST00000588957:exon5:c.G126A:p.R42R Score=616;Name=lod=426 NA 17q21.31 NA NA NA NA rs2289681 0.14 0.14 0.123 0.140775 0.1014 0.1359 0.0937 0.2413 0.0838 0.1 0.13 0.1 0.26 0.1163 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347191 NA NA 0.112558 0.241035 NA 0.181 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056912.1;CLNDSDB=.;CLNDSDBID=. 7.3364086 918 20 25260931 25260931 A G exonic PYGB NA synonymous SNV PYGB:NM_002862:exon10:c.A1122G:p.A374A exonic ENSG00000100994 NA synonymous SNV ENSG00000100994:ENST00000216962:exon10:c.A1122G:p.A374A NA NA 20p11.21 Score=765;Name=V$HTF_01 Name=HA-E2F1,p300,GR Name=12 NA rs2227890 0.55 0.55 0.554 0.537141 0.4334 0.9107 0.3473 0.4523 0.5082 0.44 0.93 0.35 0.45 0.4611 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546982 NA NA 0.436512 0.431911 ID=COSM443571;OCCURENCE=1(breast) 0.486 NA 7.3356546 918 8 144811338 144811338 C G exonic FAM83H NA nonsynonymous SNV FAM83H:NM_198488:exon3:c.G603C:p.Q201H exonic ENSG00000180921 NA nonsynonymous SNV ENSG00000180921:ENST00000388913:exon3:c.G603C:p.Q201H Score=483;Name=lod=122 NA 8q24.3 Score=843;Name=V$USF_01 NA NA NA rs9969600 1 1 1 0.998602 1 1 1 0.9947 1 1 1 1 1 0.9992 1 0.86 T 0.0 B 0.0 B 0.011 N 1.000 P 1.625 L 2.72 T -0.900 T 0.000 T 0.185 -0.516 1.644 2.28 0.009 -0.006 7.129 -0.515703 NA 1 0.999045 0.999519 NA 1 NA 7.3350884 919 16 27772901 27772901 G A exonic KIAA0556 NA nonsynonymous SNV KIAA0556:NM_015202:exon19:c.G3799A:p.A1267T exonic ENSG00000047578 NA nonsynonymous SNV ENSG00000047578:ENST00000261588:exon19:c.G3799A:p.A1267T Score=479;Name=lod=118 NA 16p12.1 NA NA NA NA rs4787984 1 1 1 0.9998 1 1 0.9986 1 1 1 1 1 1 0.9995 1 1 T 0.0 B 0.0 B 0.000 N 0.997 P -3.175 N 2.79 T -0.986 T 0.000 T 0.074 0.691 7.693 4.56 0.616 7.372 9.831 0.691394 NA NA 0.99907 1 NA 1 NA 7.3347634 919 1 53553612 53553612 T C UTR3 SLC1A7 NM_006671:c.*69A>G NA NA UTR3 ENSG00000162383 ENST00000371494:c.*69A>G NA NA NA NA 1p32.3 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=6 NA NA NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301796 NA NA NA NA NA NA NA 7.3333334 919 5 149495252 149495252 G T UTR3 PDGFRB NM_002609:c.*74C>A NA NA UTR3 ENSG00000113721 ENST00000261799:c.*74C>A NA NA NA NA 5q32 NA Name=GATA-1,ETS1,HMGN3,TAL1_(SC-12984),GABP,Pol2,NRSF,GATA-2,Pol2-4H8,ZBTB7A_(SC-34508),CCNT2,ELF1_(SC-631),THAP1_(SC-98174),USF-1,GATA2_(CG2-96) Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280676 NA NA NA NA NA NA NA 7.3333334 919 21 38792632 38792632 C T UTR5 DYRK1A NM_101395:c.-45C>T,NM_130436:c.-45C>T,NM_130438:c.-45C>T,NM_001396:c.-45C>T NA NA UTR5 ENSG00000157540 ENST00000338785:c.-45C>T,ENST00000426672:c.-45C>T,ENST00000455097:c.-45C>T,ENST00000451934:c.-45C>T,ENST00000321219:c.-45C>T,ENST00000339659:c.-45C>T,ENST00000398960:c.-45C>T NA NA Score=665;Name=lod=673 NA 21q22.13 Score=895;Name=V$CEBPB_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.345192 3.345192 NA NA NA NA NA NA 7.3333334 919 7 23761159 23761159 C T intronic STK31 NA NA NA ncRNA_exonic ENSG00000234800 NA NA NA Score=625;Name=lod=462 NA 7p15.3 NA NA Name=14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240672 NA NA NA NA NA NA NA 7.3333333 919 10 104629733 104629733 G C ncRNA_intronic C10orf32-AS3MT NA NA NA intronic ENSG00000214435,ENSG00000270316 NA NA NA NA NA 10q24.32 NA Name=TAF1 Name=9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638717 NA NA NA NA NA NA NA 7.3333333 919 12 8982318 8982318 T C intronic A2ML1 NA NA NA ncRNA_intronic ENSG00000256661 NA NA NA NA NA 12p13.31 NA Name=NRSF Name=6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067686 NA NA NA NA NA NA NA 7.3333333 919 20 33063964 33063964 A G intronic ITCH NA NA NA ncRNA_exonic ENSG00000181741 NA NA NA Score=545;Name=lod=218 NA 20q11.22 NA NA Name=65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248239 NA NA NA NA NA NA NA 7.3333333 919 22 50956675 50956675 C T exonic NCAPH2 NA nonsynonymous SNV NCAPH2:NM_001185011:exon7:c.C614T:p.A205V,NCAPH2:NM_014551:exon7:c.C614T:p.A205V,NCAPH2:NM_152299:exon7:c.C614T:p.A205V exonic ENSG00000025770 NA nonsynonymous SNV ENSG00000025770:ENST00000523045:exon6:c.C512T:p.A171V,ENSG00000025770:ENST00000299821:exon7:c.C614T:p.A205V,ENSG00000025770:ENST00000395698:exon7:c.C614T:p.A205V,ENSG00000025770:ENST00000395701:exon7:c.C614T:p.A205V,ENSG00000025770:ENST00000420993:exon7:c.C614T:p.A205V NA NA 22q13.33 NA NA NA NA rs139403039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009176 0.0005 1 T 0.009 B 0.008 B 0.015 N 1.000 N 0 N . . -1.017 T 0.041 T 0.263 0.698 7.723 1.13 0.195 -0.764 4.575 0.697691 NA 0.3 0.000116 0.000454 ID=COSM1035498,COSM1154045;OCCURENCE=1(endometrium) NA NA 7.3331256 919 14 23549797 23549797 T A exonic ACIN1 NA nonsynonymous SNV ACIN1:NM_001164815:exon5:c.A801T:p.E267D,ACIN1:NM_001164814:exon6:c.A921T:p.E307D,ACIN1:NM_014977:exon6:c.A921T:p.E307D exonic ENSG00000100813 NA nonsynonymous SNV ENSG00000100813:ENST00000457657:exon5:c.A801T:p.E267D,ENSG00000100813:ENST00000262710:exon6:c.A921T:p.E307D,ENSG00000100813:ENST00000555053:exon6:c.A921T:p.E307D,ENSG00000100813:ENST00000605057:exon6:c.A747T:p.E249D NA NA 14q11.2 NA NA NA NA rs143040721 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00005766 0.0001 0.16 T 0.002 B 0.004 B 0.117 N 1.000 N 0.205 N 2.04 T -1.017 T 0.025 T 0.124 1.267 10.13 1.3 0.068 -0.562 7.493 1.266771 1.266771 0.04 0.000116 0 NA NA NA 7.3321597 919 19 42729069 42729069 C A exonic ZNF526 NA nonsynonymous SNV ZNF526:NM_133444:exon3:c.C514A:p.P172T exonic ENSG00000167625 NA nonsynonymous SNV ENSG00000167625:ENST00000301215:exon3:c.C514A:p.P172T NA NA 19q13.2 NA NA NA NA rs143231579 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00006591 0.0003 . . 0.041 B 0.025 B 0.800 N 1.000 N 1.39 L 3.0 T -0.961 T 0.022 T 0.232 0.826 8.328 0.807 0.584 0.878 4.251 0.825797 NA 0.02 0.000349 0 NA NA NA 7.3319185 919 9 107457275 107457275 A C exonic OR13D1 NA nonsynonymous SNV OR13D1:NM_001004484:exon1:c.A573C:p.Q191H exonic ENSG00000179055 NA nonsynonymous SNV ENSG00000179055:ENST00000318763:exon1:c.A573C:p.Q191H NA NA 9q31.1 NA NA NA NA rs10820709 0.46 0.46 0.444 0.487021 0.3151 0.505 0.4827 0.6778 0.3906 0.33 0.51 0.43 0.64 0.3842 0.64 0.21 T 0.052 B 0.084 B 0.000 D 1.000 P 0 N 9.06 T -0.957 T 0.000 T 0.092 -0.25 2.797 -0.483 0.074 -0.772 4.664 -0.24997 NA 0.13 0.302558 0.632773 NA 0.391 NA 7.3314754 919 2 152320118 152320118 G A exonic RIF1 NA nonsynonymous SNV RIF1:NM_001177665:exon29:c.G4084A:p.V1362M,RIF1:NM_001177663:exon30:c.G4084A:p.V1362M,RIF1:NM_001177664:exon30:c.G4084A:p.V1362M,RIF1:NM_018151:exon30:c.G4084A:p.V1362M exonic ENSG00000080345 NA nonsynonymous SNV ENSG00000080345:ENST00000243326:exon29:c.G4084A:p.V1362M,ENSG00000080345:ENST00000430328:exon29:c.G4084A:p.V1362M,ENSG00000080345:ENST00000428287:exon30:c.G4084A:p.V1362M,ENSG00000080345:ENST00000444746:exon30:c.G4084A:p.V1362M,ENSG00000080345:ENST00000453091:exon30:c.G4084A:p.V1362M NA NA 2q23.3 NA NA NA NA rs2123465 0.7 0.7 0.683 0.639976 0.6779 0.7579 0.7061 0.5756 0.5194 0.66 0.79 0.71 0.63 0.6615 0.79 0.18 T 0.013 B 0.02 B 0.050 N 1.000 P 0.755 N 1.32 T -0.972 T 0.000 T 0.019 -0.943 0.354 -5.84 -2.144 -0.424 11.108 -0.943203 NA 0.2 0.662558 0.578792 NA 0.688 NA 7.3313754 919 6 30920890 30920890 G A exonic DPCR1 NA nonsynonymous SNV DPCR1:NM_080870:exon3:c.G4178A:p.R1393Q exonic ENSG00000168631 NA nonsynonymous SNV ENSG00000168631:ENST00000304311:exon3:c.G704A:p.R235Q,ENSG00000168631:ENST00000462446:exon3:c.G4178A:p.R1393Q NA NA 6p21.33 NA NA NA NA rs2240804 0.22 0.22 0.196 0.18151 0.3419 0.1776 0.196 0.0446 0.1953 0.34 0.22 0.19 0.04 0.2982 0.36 0 D 0.35 B 0.141 B . . 1.000 P 1.445 L 1.68 T -1.018 T 0.024 T 0.013 3.793 19.26 -1.63 -0.238 -0.186 4.228 3.793411 3.793411 0 0.362093 0.097594 NA 0.261 NA 7.3311404 919 17 37331345 37331345 A T UTR3 CACNB1 NM_000723:c.*101T>A NA NA ncRNA_UTR3 ENSG00000067191 NA NA NA NA Name=IgG glycosylation 17q12 NA Name=SMC3_(ab9263),CTCFL_(SC-98982),CTCF,Rad21,Pol2-4H8,ZNF263,CTCF_(SC-5916),CTCF_(C-20),ZBTB7A_(SC-34508) Name=128 NA rs523516 0.21 0.21 0.222 0.211462 0.169 0.25 0.1052 0.3321 0.1278 0.16 0.23 0.14 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.375947 1.375947 NA NA NA NA 0.188 NA 7.331 919 19 55087463 55087463 G C exonic LILRA2 NA nonsynonymous SNV LILRA2:NM_001130917:exon6:c.G1142C:p.R381P,LILRA2:NM_006866:exon6:c.G1142C:p.R381P exonic ENSG00000239998 NA nonsynonymous SNV ENSG00000239998:ENST00000391737:exon5:c.G1106C:p.R369P,ENSG00000239998:ENST00000251376:exon6:c.G1142C:p.R381P,ENSG00000239998:ENST00000391738:exon6:c.G1142C:p.R381P,ENSG00000239998:ENST00000251377:exon7:c.G1142C:p.R381P NA NA 19q13.42 NA NA NA NA rs140640200 0.0014 0.0014 NA 0.00519169 0.001 0.001 0.0014 NA 0.0235 0.004 NA NA NA 0.001 0.004 . . 0.0 B 0.001 B 0.101 N 1.000 N -3.575 N 4.11 T -0.843 T 0.001 T 0.201 -1.247 0.052 -0.756 0.048 -0.372 2.962 -1.246702 NA 0.53 0.000581 0.000227 NA NA NA 7.3307524 919 20 25282944 25282944 A G exonic ABHD12 NA synonymous SNV ABHD12:NM_001042472:exon12:c.T1068C:p.D356D,ABHD12:NM_015600:exon12:c.T1068C:p.D356D exonic ENSG00000100997 NA synonymous SNV ENSG00000100997:ENST00000339157:exon12:c.T1068C:p.D356D,ENSG00000100997:ENST00000376542:exon12:c.T1068C:p.D356D Score=454;Name=lod=93 NA 20p11.21 Score=860;Name=V$COUP_01 NA NA NA rs10966 0.56 0.56 0.555 0.541534 0.4374 0.9107 0.3516 0.4629 0.5092 0.44 0.93 0.35 0.46 0.4632 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066021 NA NA 0.436512 0.450976 NA 0.486 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116214.2;CLNDSDB=.;CLNDSDBID=. 7.3295546 919 11 67397251 67397251 G C exonic NUDT8 NA synonymous SNV NUDT8:NM_001243750:exon1:c.C132G:p.V44V,NUDT8:NM_181843:exon1:c.C132G:p.V44V exonic ENSG00000167799 NA synonymous SNV ENSG00000167799:ENST00000301490:exon1:c.C132G:p.V44V,ENSG00000167799:ENST00000376693:exon1:c.C132G:p.V44V Score=565;Name=lod=263 NA 11q13.2 NA Name=TAF1,Pol2,CCNT2,HEY1,TBP,Sin3Ak-20,Pol2-4H8 NA NA rs17851655 0.14 0.14 0.115 0.14976 0.0944 0.0704 0.0937 0.289 0.1401 0.09 0.08 0.1 0.29 0.1462 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320809 1.320809 NA 0.096968 0.197001 NA 0.007 NA 7.3290986 919 17 72588326 72588326 A C exonic C17orf77,CD300LD NA nonsynonymous SNV CD300LD:NM_001115152:exon1:c.T16G:p.S6A,C17orf77:NM_152460:exon3:c.A141C:p.R47S exonic ENSG00000182352,ENSG00000204345 NA nonsynonymous SNV ENSG00000204345:ENST00000375352:exon1:c.T16G:p.S6A,ENSG00000182352:ENST00000328023:exon2:c.A141C:p.R47S,ENSG00000182352:ENST00000392620:exon3:c.A141C:p.R47S NA NA 17q25.1 NA NA Name=8 NA rs493430 0.66 0.66 0.671 0.674321 0.675 0.5714 0.5533 0.8298 0.6554 0.69 0.55 0.56 0.83 0.6633 0.83 1 T 0.0 B 0.0 B 0.267 N 1.000 P . . 3.91 T -1.010 T 0.000 T 0.023 1.013 9.137 2.12 0.142 -0.793 3.455 1.01284 NA 0.05 0.666279 0.810259 ID=COSM1130171,COSM1130172;OCCURENCE=1(prostate) 0.696 NA 7.3287544 919 21 37444973 37444973 C T exonic CBR1 NA synonymous SNV CBR1:NM_001757:exon3:c.C627T:p.A209A exonic ENSG00000159228 NA synonymous SNV ENSG00000159228:ENST00000290349:exon3:c.C627T:p.A209A Score=313;Name=lod=25 NA 21q22.12 Score=749;Name=V$STAT5A_02 NA NA NA rs20572 0.13 0.13 0.118 0.1252 0.0875 0.2133 0.1772 0.003 0.2014 0.1 0.25 0.16 0.01 0.1327 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.953136 NA NA 0.117791 0.024966 NA 0.072 NA 7.3286756 919 19 23556550 23556550 G A exonic ZNF91 NA nonsynonymous SNV ZNF91:NM_003430:exon3:c.C247T:p.P83S exonic ENSG00000167232 NA nonsynonymous SNV ENSG00000167232:ENST00000300619:exon3:c.C247T:p.P83S,ENSG00000167232:ENST00000599743:exon3:c.C247T:p.P83S NA NA 19p12 NA NA NA NA rs148956643 0.01 0.01 0.009 0.0145767 NA NA 0.0072 0.0514 NA NA NA 0.01 0.05 0.0047 0.05 0.5 T 0.105 B 0.02 B . . 1.000 N 1.845 L 3.38 T -0.918 T 0.003 T 0.07 -2.231 0.005 -0.317 -1.052 -0.167 . -2.230572 NA 0.2 0.000116 0.047706 NA 0.014 NA 7.3285174 919 17 73487830 73487830 A G exonic KIAA0195 NA nonsynonymous SNV KIAA0195:NM_014738:exon14:c.A1445G:p.N482S exonic ENSG00000177728 NA nonsynonymous SNV ENSG00000177728:ENST00000580918:exon3:c.A329G:p.N110S,ENSG00000177728:ENST00000579208:exon6:c.A398G:p.N133S,ENSG00000177728:ENST00000375248:exon13:c.A1475G:p.N492S,ENSG00000177728:ENST00000314256:exon14:c.A1445G:p.N482S NA NA 17q25.1 NA NA NA NA rs35709918 0.01 0.01 0.014 0.0119808 0.001 NA 0.0029 0.0431 NA NA NA NA 0.04 0.0042 0.048 0.34 T 0.0 B 0.001 B 0.004 N 1.000 N 0.41 N 0.96 T -1.071 T 0.011 T 0.032 -0.559 1.475 0.761 -0.172 0.153 10.918 -0.558834 NA 0.39 0.000581 0.048116 NA NA NA 7.3275524 919 15 25926179 25926179 C T exonic ATP10A NA nonsynonymous SNV ATP10A:NM_024490:exon18:c.G3535A:p.A1179T exonic ENSG00000206190 NA nonsynonymous SNV ENSG00000206190:ENST00000356865:exon18:c.G3535A:p.A1179T NA NA 15q12 NA NA NA NA rs2076744 0.29 0.29 0.283 0.282149 0.1441 0.2599 0.3516 0.4735 0.1391 0.14 0.3 0.33 0.49 0.2016 0.49 0.1 T 0.644 P 0.095 B 0.055 N 1.000 P 0.115 N 0.94 T -0.912 T 0.000 T 0.099 0.782 8.127 0.298 0.111 0.681 1.590 0.782181 NA 0.05 0.160233 0.417385 ID=COSM1372118;OCCURENCE=1(large_intestine) 0.326 NA 7.3274004 919 19 38817876 38817876 G A exonic KCNK6 NA nonsynonymous SNV KCNK6:NM_004823:exon3:c.G775A:p.V259M exonic ENSG00000099337 NA nonsynonymous SNV ENSG00000099337:ENST00000263372:exon3:c.G775A:p.V259M NA NA 19q13.2 NA NA NA NA rs34989303 0.15 0.15 0.128 0.15655 0.1829 0.1478 0.2378 0.0507 0.2239 0.18 0.15 0.24 0.05 0.1703 0.24 0.09 T 0.801 P 0.426 B 0.002 N 1.000 P 0.145 N 1.86 T -0.984 T 0.000 T 0.087 1.937 12.43 0.581 0.228 -0.109 3.891 1.93668 1.93668 0.23 0.152791 0.074217 NA 0.116 NA 7.3273424 919 10 20506418 20506418 G A exonic PLXDC2 NA nonsynonymous SNV PLXDC2:NM_032812:exon11:c.G1186A:p.V396I exonic ENSG00000120594 NA nonsynonymous SNV ENSG00000120594:ENST00000377242:exon10:c.G1039A:p.V347I,ENSG00000120594:ENST00000377252:exon11:c.G1186A:p.V396I NA NA 10p12.31 NA NA NA NA rs3817405 0.56 0.56 0.615 0.566294 0.7048 0.3085 0.4481 0.7095 0.5798 0.7 0.33 0.47 0.67 0.6158 0.7 0.44 T 0.003 B 0.002 B 0.194 N 1.000 P 1.39 L -1.0 T -1.011 T 0.000 T 0.026 -0.421 2.036 -11.1 -2.080 -2.181 4.875 -0.42112 NA 0.39 0.686395 0.692238 NA 0.63 NA 7.3263384 919 2 238253149 238253149 G A exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon33:c.C5691T:p.N1897N,COL6A3:NM_057167:exon35:c.C6894T:p.N2298N,COL6A3:NM_004369:exon36:c.C7512T:p.N2504N exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon33:c.C5691T:p.N1897N,ENSG00000163359:ENST00000409809:exon34:c.C6894T:p.N2298N,ENSG00000163359:ENST00000346358:exon35:c.C6912T:p.N2304N,ENSG00000163359:ENST00000347401:exon35:c.C6909T:p.N2303N,ENSG00000163359:ENST00000353578:exon35:c.C6894T:p.N2298N,ENSG00000163359:ENST00000295550:exon36:c.C7512T:p.N2504N NA NA 2q37.3 Score=772;Name=V$HOX13_01 NA NA NA rs2646258 0.1 0.1 0.093 0.108427 0.1282 0.0536 0.1729 0.09 0.1237 0.13 0.05 0.16 0.09 0.1085 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.357619 NA NA 0.104884 0.091693 NA 0.087 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080994.3;CLNDSDB=.;CLNDSDBID=. 7.3250826 920 3 164730804 164730804 T C exonic SI NA synonymous SNV SI:NM_001041:exon34:c.A4026G:p.T1342T exonic ENSG00000090402 NA synonymous SNV ENSG00000090402:ENST00000264382:exon34:c.A4026G:p.T1342T Score=466;Name=lod=104 NA 3q26.1 Score=902;Name=V$SRY_02 NA NA NA rs74648160 0.09 0.09 0.085 0.0986422 0.1083 0.0794 0.0706 0.0703 0.1667 0.09 0.08 0.09 0.09 0.1128 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042303 NA NA 0.12093 0.080572 NA 0.08 NA 7.3246366 920 6 31379931 31379931 G A exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon4:c.G821A:p.R274Q,MICA:NM_001177519:exon4:c.G821A:p.R274Q exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon3:c.G494A:p.R165Q,ENSG00000204520:ENST00000449934:exon4:c.G821A:p.R274Q NA Name=Rheumatoid arthritis 6p21.33 NA NA NA NA rs1063635 NA NA 0.524 0.583267 0.5089 0.4226 0.6196 0.7519 0.5716 NA NA NA NA 0.5 0.53 0.41 T 0.029 B 0.01 B 0.756 N 1.000 P . . 4.17 T -0.916 T 0.002 T 0.119 -0.773 0.751 -0.104 -0.066 -0.399 1.336 -0.772915 NA 1 NA NA NA 0.478 NA 7.3244334 920 20 1961134 1961134 A G exonic PDYN NA synonymous SNV PDYN:NM_001190892:exon3:c.T600C:p.H200H,PDYN:NM_001190899:exon3:c.T600C:p.H200H,PDYN:NM_001190898:exon4:c.T600C:p.H200H,PDYN:NM_001190900:exon4:c.T600C:p.H200H,PDYN:NM_024411:exon4:c.T600C:p.H200H exonic ENSG00000101327 NA synonymous SNV ENSG00000101327:ENST00000539905:exon3:c.T600C:p.H200H,ENSG00000101327:ENST00000217305:exon4:c.T600C:p.H200H,ENSG00000101327:ENST00000540134:exon4:c.T600C:p.H200H Score=603;Name=lod=376 NA 20p13 Score=794;Name=V$XBP1_01 NA NA NA rs6045819 0.13 0.13 0.125 0.130192 0.1103 NA 0.1037 0.32 0.047 0.1 NA 0.1 0.35 0.1109 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782228 NA NA 0.121744 0.273037 NA 0.087 NA 7.3237226 920 1 120341126 120341126 T G exonic REG4 NA nonsynonymous SNV REG4:NM_032044:exon5:c.A403C:p.N135H,REG4:NM_001159352:exon6:c.A403C:p.N135H exonic ENSG00000134193 NA nonsynonymous SNV ENSG00000134193:ENST00000256585:exon5:c.A403C:p.N135H,ENSG00000134193:ENST00000354219:exon6:c.A403C:p.N135H NA NA 1p12 NA NA NA NA rs34996202 0.03 0.03 0.038 0.0315495 0.001 NA 0.0115 0.1127 NA 0.0013 NA 0.02 0.14 0.0086 0.14 0.75 T 0.0 B 0.006 B 0.368 N 1.000 P 0.08 N 2.17 T -0.982 T 0.008 T 0.031 2.324 13.73 -1.1 -0.034 -0.009 6.555 2.324234 2.324234 0.03 0.000233 0.087608 NA 0.029 NA 7.3235004 920 9 21239552 21239552 C T exonic IFNA14 NA nonsynonymous SNV IFNA14:NM_002172:exon1:c.G383A:p.G128E exonic ENSG00000228083 NA nonsynonymous SNV ENSG00000228083:ENST00000380222:exon1:c.G383A:p.G128E NA NA 9p21.3 NA NA NA NA rs28383770 0.0027 0.0027 0.002 0.00239617 0.003 NA 0.0086 0.0008 0.002 0.0026 NA 0.01 0.002 0.0023 0.01 0.07 T 0.002 B 0.027 B 0.677 N 1.000 N 1.54 L 3.5 T -0.976 T 0.013 T 0.154 0.683 7.653 -0.705 -0.028 -0.575 6.54 0.68335 NA 0.07 0.004651 0 NA NA NA 7.3233824 920 1 248458766 248458766 T C exonic OR2T12 NA nonsynonymous SNV OR2T12:NM_001004692:exon1:c.A115G:p.S39G exonic ENSG00000177201 NA nonsynonymous SNV ENSG00000177201:ENST00000317996:exon1:c.A115G:p.S39G NA NA 1q44 NA NA NA NA rs41310573 0.01 0.01 0 0.00758786 0.005 0.001 0.0043 0.0219 NA 0.01 NA 0.01 0.03 0.0029 0.03 1 T 0.0 B 0.0 B 0.199 N 1.000 N -2.915 N 8.1 T -0.950 T 0.000 T 0.093 -1.437 0.02 1.55 -0.159 0.656 7.423 -1.436879 NA 1 0.002442 0.008625 ID=COSM1341135;OCCURENCE=1(large_intestine) NA NA 7.3229914 920 4 17818885 17818885 T C exonic NCAPG NA synonymous SNV NCAPG:NM_022346:exon6:c.T777C:p.D259D exonic ENSG00000109805 NA nonsynonymous SNV ENSG00000109805:ENST00000514176:exon5:c.T692C:p.M231T Score=483;Name=lod=122 NA 4p15.31 NA Name=FOXA1_(C-20),SMC3_(ab9263),Rad21,CTCF_(C-20),CTCF Name=141 NA rs2302212 0.36 0.36 0.346 0.346446 0.5984 0.2163 0.4568 0.1029 0.4724 0.59 0.21 0.46 0.1 0.5024 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.465434 1.465434 NA 0.576395 0.171357 ID=COSM1428600;OCCURENCE=1(large_intestine) 0.377 NA 7.322805 920 11 93529655 93529655 G A exonic MED17 NA synonymous SNV MED17:NM_004268:exon7:c.G1092A:p.P364P exonic ENSG00000042429 NA synonymous SNV ENSG00000042429:ENST00000251871:exon7:c.G1092A:p.P364P Score=602;Name=lod=373 NA 11q21 NA NA NA NA rs34057693 0.12 0.12 0.123 0.113219 0.1153 0.1419 0.072 0.1036 0.1237 0.12 0.15 0.09 0.11 0.1185 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639724 NA NA 0.110517 0.10836 NA 0.181 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117605.2;CLNDSDB=.;CLNDSDBID=. 7.3223496 920 8 144992103 144992103 T C exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.A11844G:p.T3948T,PLEC:NM_201379:exon32:c.A11820G:p.T3940T,PLEC:NM_201380:exon32:c.A12297G:p.T4099T,PLEC:NM_201381:exon32:c.A11790G:p.T3930T,PLEC:NM_201382:exon32:c.A11886G:p.T3962T,PLEC:NM_201383:exon32:c.A11898G:p.T3966T,PLEC:NM_201384:exon32:c.A11886G:p.T3962T,PLEC:NM_000445:exon33:c.A11967G:p.T3989T exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.A12297G:p.T4099T,ENSG00000178209:ENST00000345136:exon32:c.A11886G:p.T3962T,ENSG00000178209:ENST00000354589:exon32:c.A11886G:p.T3962T,ENSG00000178209:ENST00000354958:exon32:c.A11820G:p.T3940T,ENSG00000178209:ENST00000356346:exon32:c.A11844G:p.T3948T,ENSG00000178209:ENST00000357649:exon32:c.A11898G:p.T3966T,ENSG00000178209:ENST00000398774:exon32:c.A11790G:p.T3930T,ENSG00000178209:ENST00000527096:exon32:c.A11955G:p.T3985T,ENSG00000178209:ENST00000436759:exon33:c.A11967G:p.T3989T NA NA 8q24.3 NA Name=Pol2 Name=2 NA rs6558406 0.47 0.47 0.486 0.490415 0.4563 0.1538 0.3775 0.916 0.3773 0.45 0.17 0.4 0.9 0.4343 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.935124 NA NA 0.453835 0.857448 ID=COSM454175,COSM1489094,COSM454174;OCCURENCE=1(breast) 0.543 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078840.3;CLNDSDB=.;CLNDSDBID=. 7.3222316 920 21 46057806 46057806 G A exonic KRTAP10-10 NA nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.G472A:p.V158M exonic ENSG00000221859 NA nonsynonymous SNV ENSG00000221859:ENST00000380095:exon1:c.G472A:p.V158M NA NA 21q22.3 NA NA NA NA rs4818950 0.62 0.62 0.593 0.603435 0.6928 0.6667 0.6671 0.4342 0.6299 0.69 0.65 0.67 0.45 0.6514 0.69 0.1 T 0.642 P 0.574 P . . 1.000 P 1.7 L 4.92 T -1.089 T 0.000 T 0.036 -0.722 0.902 -0.278 -0.309 -1.385 3.081 -0.721876 NA 0.04 0.667209 0.46709 NA 0.486 NA 7.3219244 920 21 46011583 46011583 G T exonic KRTAP10-6 NA stopgain KRTAP10-6:NM_198688:exon1:c.C783A:p.C261X exonic ENSG00000188155 NA stopgain ENSG00000188155:ENST00000400368:exon1:c.C783A:p.C261X NA NA 21q22.3 NA NA NA NA rs233303 0.22 0.22 0.159 0.216254 0.2107 0.3214 0.2248 0.1528 0.1933 0.22 0.29 0.22 0.14 0.2229 0.29 1 T . . . . . . 0.000 P . . . . . . . . . 1.542 11.11 -0.354 0.012 -0.199 6.116 1.542055 1.542055 0.05 0.244651 0.16069 NA 0.007 NA 7.321749 920 1 205554095 205554095 A C exonic MFSD4 NA synonymous SNV MFSD4:NM_181644:exon5:c.A951C:p.V317V exonic ENSG00000174514 NA synonymous SNV ENSG00000174514:ENST00000536357:exon4:c.A690C:p.V230V,ENSG00000174514:ENST00000367147:exon5:c.A951C:p.V317V,ENSG00000174514:ENST00000539267:exon5:c.A951C:p.V317V Score=471;Name=lod=109 NA 1q32.1 NA Name=CTCF_(SC-5916),CTCF Name=7 NA rs7515820 0.36 0.36 0.347 0.359824 0.4483 0.0625 0.4006 0.5469 0.2935 0.47 0.06 0.42 0.51 0.4204 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578294 1.578294 NA 0.477907 0.522242 NA 0.449 NA 7.3200596 920 1 94342564 94342564 C A exonic DNTTIP2 NA nonsynonymous SNV DNTTIP2:NM_014597:exon2:c.G927T:p.E309D exonic ENSG00000067334 NA nonsynonymous SNV ENSG00000067334:ENST00000359208:exon2:c.G927T:p.E309D,ENSG00000067334:ENST00000436063:exon2:c.G927T:p.E309D NA NA 1p22.1 NA NA NA NA rs3747965 0.34 0.34 0.324 0.344848 0.325 0.5565 0.33 0.0817 0.5133 0.33 0.57 0.34 0.09 0.3538 0.57 0.18 T 0.006 B 0.005 B 0.813 N 1.000 P 1.78 L 1.97 T -0.977 T 0.018 T 0.021 0.589 7.18 0.373 -0.083 -1.753 4.542 0.589308 NA 0.28 0.335496 0.138205 NA 0.384 NA 7.3190374 920 7 65429359 65429359 G A exonic GUSB NA synonymous SNV GUSB:NM_000181:exon11:c.C1740T:p.Y580Y exonic ENSG00000169919 NA synonymous SNV ENSG00000169919:ENST00000421103:exon9:c.C1302T:p.Y434Y,ENSG00000169919:ENST00000345660:exon10:c.C1587T:p.Y529Y,ENSG00000169919:ENST00000304895:exon11:c.C1740T:p.Y580Y Score=456;Name=lod=95 NA 7q11.21 NA NA NA NA rs1061361 0.12 0.12 0.094 0.142173 0.1064 0.1468 0.2147 0.0825 0.2035 0.09 0.18 0.18 0.05 0.1289 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443292 NA NA 0.112378 0.070132 NA 0.203 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078326.1;CLNDSDB=.;CLNDSDBID=. 7.3189886 920 19 4891564 4891564 C T exonic ARRDC5 NA nonsynonymous SNV ARRDC5:NM_001080523:exon3:c.G523A:p.E175K exonic ENSG00000205784 NA nonsynonymous SNV ENSG00000205784:ENST00000381781:exon3:c.G523A:p.E175K NA NA 19p13.3 NA NA NA NA rs117229323 0.0027 0.0027 0.002 0.00239617 0.006 NA 0.0058 NA 0.002 0.01 NA 0.01 NA 0.0039 0.01 0.57 T 0.003 B 0.003 B 0.005 N 1.000 N 0.975 L 2.12 T -1.006 T 0.019 T 0.157 -0.329 2.439 0.412 0.339 -0.074 4.368 -0.329008 NA 0.67 0.004565 0.000753 NA NA NA 7.3188684 920 9 2116037 2116037 G A exonic SMARCA2 NA synonymous SNV SMARCA2:NM_003070:exon25:c.G3672A:p.E1224E,SMARCA2:NM_139045:exon25:c.G3672A:p.E1224E exonic ENSG00000080503 NA synonymous SNV ENSG00000080503:ENST00000382194:exon24:c.G3672A:p.E1224E,ENSG00000080503:ENST00000349721:exon25:c.G3672A:p.E1224E,ENSG00000080503:ENST00000357248:exon25:c.G3672A:p.E1224E,ENSG00000080503:ENST00000382203:exon25:c.G3672A:p.E1224E Score=514;Name=lod=164 NA 9p24.3 NA NA NA NA rs6601 0.2 0.2 0.224 0.235423 0.1024 0.0188 0.1009 0.6838 0.0849 0.1 0.02 0.1 0.65 0.138 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537707 NA NA 0.107442 0.58148 NA 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114289.2;CLNDSDB=.;CLNDSDBID=. 7.3188246 920 1 168013876 168013876 G A exonic DCAF6 NA nonsynonymous SNV DCAF6:NM_001017977:exon13:c.G1666A:p.A556T,DCAF6:NM_001198957:exon14:c.G1804A:p.A602T,DCAF6:NM_018442:exon14:c.G1726A:p.A576T,DCAF6:NM_001198956:exon15:c.G1897A:p.A633T exonic ENSG00000143164 NA nonsynonymous SNV ENSG00000143164:ENST00000312263:exon13:c.G1666A:p.A556T,ENSG00000143164:ENST00000367843:exon14:c.G1726A:p.A576T,ENSG00000143164:ENST00000432587:exon14:c.G1804A:p.A602T,ENSG00000143164:ENST00000367840:exon15:c.G1897A:p.A633T NA NA 1q24.2 NA NA NA NA rs113151068 0.0037 0.0037 NA 0.00199681 0.007 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0026 0.01 0.58 T 0.044 B 0.022 B 0.054 N 1.000 N 0 N 1.45 T -0.971 T 0.009 T 0.093 1.73 11.75 -1.27 -0.094 -0.343 1.901 1.730334 1.730334 0.15 0.005116 0.000227 NA NA NA 7.3186174 920 3 32859520 32859520 C T UTR5 TRIM71 NM_001039111:c.-53C>T NA NA UTR5 ENSG00000206557 ENST00000383763:c.-53C>T NA NA Score=527;Name=lod=185 NA 3p22.3 NA Name=Pol2,ZNF263,TAF1 Name=24 NA rs75296584 0.03 0.03 0.031 0.0347444 0.0149 0.122 NA NA 0.0368 0.01 0.1 NA NA NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.234287 1.234287 NA NA NA NA 0.014 NA 7.3184334 921 6 12124587 12124587 C G exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.C4559G:p.A1520G exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.C4559G:p.A1520G NA NA 6p24.1 NA NA NA NA rs2228212 0.27 0.27 0.245 0.248003 0.3439 0.1796 0.3141 0.1982 0.2403 0.36 0.16 0.32 0.21 0.3199 0.36 . . 0.091 B 0.016 B 0.057 N 1.000 P 0.69 N 3.03 T -0.936 T 0.005 T 0.04 0.765 8.046 -3.84 -0.373 -0.720 7.178 0.764953 NA 0.53 0.354804 0.209296 NA 0.159 NA 7.3147294 921 4 961373 961373 G A exonic DGKQ NA synonymous SNV DGKQ:NM_001347:exon8:c.C951T:p.V317V exonic ENSG00000145214 NA synonymous SNV ENSG00000145214:ENST00000273814:exon8:c.C951T:p.V317V NA NA 4p16.3 Score=802;Name=V$PAX3_01 NA NA NA rs1377586 0.44 0.44 0.411 0.403954 0.4483 0.3363 0.5519 0.385 0.3487 0.45 0.36 0.56 0.43 0.4446 0.56 . . . . . . . . 0.000 P . . . . -0.915 T 0.000 T . -0.553 1.498 2.2 0.131 0.653 5.080 -0.55285 NA NA 0.45907 0.389723 NA 0.152 NA 7.3146966 921 X 140994085 140994085 C G exonic MAGEC1 NA nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C895G:p.P299A exonic ENSG00000155495 NA nonsynonymous SNV ENSG00000155495:ENST00000285879:exon4:c.C895G:p.P299A,ENSG00000155495:ENST00000370511:exon5:c.C301G:p.P101A NA NA Xq27.2 NA NA NA NA rs176046 0.21 0.21 0.09062 NA NA NA NA NA NA 0.22 0.19 0.22 0.21 0.0197 0.22 1 T 0.414 B 0.058 B . . 1.000 P 0 N 4.47 T -0.995 T 0.000 T 0.201 -0.045 3.784 . 0.148 -0.670 2.903 -0.045055 NA 0 NA NA NA 0.014 NA 7.3136334 921 9 14801710 14801710 C A exonic FREM1 NA nonsynonymous SNV FREM1:NM_144966:exon21:c.G3634T:p.A1212S exonic ENSG00000164946 NA nonsynonymous SNV ENSG00000164946:ENST00000380880:exon20:c.G3634T:p.A1212S,ENSG00000164946:ENST00000380875:exon21:c.G3634T:p.A1212S,ENSG00000164946:ENST00000380881:exon21:c.G3637T:p.A1213S,ENSG00000164946:ENST00000422223:exon21:c.G3634T:p.A1212S NA NA 9p22.3 NA NA NA NA rs35870000 0.27 0.27 0.249 0.259984 0.3579 0.2321 0.3991 0.0681 0.3487 0.35 0.22 0.44 0.09 0.3243 0.44 0.73 T 0.003 B 0.011 B 0.933 N 1.000 P 0.805 L 2.83 T -0.914 T 0.000 T 0.074 1.191 9.841 1.79 0.542 0.988 2.623 1.191048 NA 0.32 0.338123 0.119373 NA 0.29 NA 7.3130104 921 17 46002744 46002744 G T exonic SP2 NA synonymous SNV SP2:NM_003110:exon6:c.G1578T:p.V526V exonic ENSG00000167182 NA synonymous SNV ENSG00000167182:ENST00000376741:exon6:c.G1578T:p.V526V Score=585;Name=lod=318 NA 17q21.32 Score=914;Name=V$MYCMAX_02 NA Name=9 NA rs1130932 0.51 0.51 0.507 0.502796 0.4583 0.7708 0.4697 0.3805 0.4611 0.44 0.74 0.46 0.39 0.4628 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062143 NA NA 0.432674 0.399001 ID=COSM292333;OCCURENCE=1(large_intestine) 0.406 NA 7.3128926 921 6 33139328 33139328 C T exonic COL11A2 NA synonymous SNV COL11A2:NM_080679:exon40:c.G2853A:p.P951P,COL11A2:NM_080681:exon41:c.G2916A:p.P972P,COL11A2:NM_080680:exon43:c.G3174A:p.P1058P exonic ENSG00000204248 NA synonymous SNV ENSG00000204248:ENST00000361917:exon40:c.G2853A:p.P951P,ENSG00000204248:ENST00000374708:exon41:c.G2916A:p.P972P,ENSG00000204248:ENST00000374712:exon41:c.G2931A:p.P977P,ENSG00000204248:ENST00000374713:exon41:c.G3033A:p.P1011P,ENSG00000204248:ENST00000357486:exon42:c.G3111A:p.P1037P,ENSG00000204248:ENST00000374714:exon42:c.G3096A:p.P1032P,ENSG00000204248:ENST00000395197:exon42:c.G2994A:p.P998P,ENSG00000204248:ENST00000341947:exon43:c.G3174A:p.P1058P Score=634;Name=lod=502 NA 6p21.32 Score=872;Name=V$NFY_01 NA NA NA rs1799910 0.46 0.46 0.501 0.51238 0.4374 0.3423 0.3948 0.6808 0.6207 0.43 0.36 0.35 0.69 0.4642 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492616 NA NA 0.452442 0.627553 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039835.1;CLNDSDB=.;CLNDSDBID=. 7.3126246 921 6 155775980 155775980 G T exonic NOX3 NA synonymous SNV NOX3:NM_015718:exon3:c.C220A:p.R74R exonic ENSG00000074771 NA synonymous SNV ENSG00000074771:ENST00000159060:exon3:c.C220A:p.R74R Score=363;Name=lod=40 NA 6q25.3 Score=906;Name=V$MEIS1_01 NA NA NA rs12195525 0.12 0.12 0.113 0.128594 0.1044 0.1171 0.2291 0.1067 0.1237 0.09 0.12 0.19 0.1 0.1376 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862312 NA NA 0.112209 0.107127 NA 0.116 NA 7.3124576 921 19 46387344 46387344 G A exonic IRF2BP1 NA synonymous SNV IRF2BP1:NM_015649:exon1:c.C1689T:p.F563F exonic ENSG00000170604 NA synonymous SNV ENSG00000170604:ENST00000302165:exon1:c.C1689T:p.F563F Score=665;Name=lod=672 NA 19q13.32 Score=818;Name=V$PPARG_03 NA NA NA rs11550348 0.12 0.12 0.133 0.136581 0.1034 0.001 0.1023 0.3185 0.089 0.09 0.0017 0.13 0.3 0.122 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774692 NA NA 0.129651 0.286428 NA 0.123 NA 7.3116156 921 5 169028481 169028481 T C exonic SPDL1 NA nonsynonymous SNV SPDL1:NM_017785:exon11:c.T1522C:p.Y508H exonic ENSG00000040275 NA nonsynonymous SNV ENSG00000040275:ENST00000265295:exon11:c.T1522C:p.Y508H NA NA 5q35.1 NA NA NA NA rs3797713 0.65 0.65 0.652 0.656749 0.672 0.7331 0.5965 0.5893 0.6963 0.69 0.72 0.6 0.57 0.6614 0.72 0.57 T 0.0 B 0.0 B 0.322 N 1.000 P 0 N 1.58 T -0.985 T 0.000 T 0.014 -0.048 3.767 -7.3 -1.851 -0.235 1.078 -0.048465 NA 0.71 0.690349 0.591466 NA 0.587 NA 7.3095844 921 9 96024182 96024182 G C exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon12:c.G3153C:p.S1051S exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000297954:exon12:c.G3153C:p.S1051S,ENSG00000165238:ENST00000349097:exon12:c.G1989C:p.S663S,ENSG00000165238:ENST00000395477:exon12:c.G3153C:p.S1051S,ENSG00000165238:ENST00000427277:exon12:c.G1989C:p.S663S Score=409;Name=lod=61 NA 9q22.31 NA NA NA NA rs12000967 0.13 0.13 0.151 0.132788 0.1362 0.001 0.1124 0.2973 0.0573 0.14 0.0017 0.13 0.29 0.1114 0.29 . . . . . . . . 0.000 P . . . . -0.976 T 0.000 T . 0.494 6.678 -0.945 -0.302 -0.715 2.084 0.493719 NA NA 0.10987 0.27089 NA 0.138 NA 7.3091966 921 18 691266 691266 A G exonic ENOSF1 NA nonsynonymous SNV ENOSF1:NM_001126123:exon5:c.T188C:p.M63T,ENOSF1:NM_017512:exon6:c.T434C:p.M145T,ENOSF1:NM_202758:exon6:c.T497C:p.M166T exonic ENSG00000132199 NA nonsynonymous SNV ENSG00000132199:ENST00000583771:exon4:c.T128C:p.M43T,ENSG00000132199:ENST00000383578:exon5:c.T188C:p.M63T,ENSG00000132199:ENST00000251101:exon6:c.T434C:p.M145T,ENSG00000132199:ENST00000340116:exon6:c.T497C:p.M166T Score=420;Name=lod=68 NA 18p11.32 NA NA NA NA rs2612086 0.26 0.26 0.264 0.255591 0.3469 0.0942 0.3516 0.2927 0.2096 0.34 0.08 0.34 0.3 0.3185 0.36 0.13 T 0.0 B 0.0 B 0.002 N 0.000 P -0.205 N 2.04 T -0.921 T 0.000 T 0.034 0.869 8.524 -1.31 -0.377 -0.106 4.704 0.869414 NA NA 0.35907 0.305493 NA 0.326 NA 7.3088634 921 7 123264804 123264804 C T exonic ASB15 NA synonymous SNV ASB15:NM_080928:exon6:c.C633T:p.V211V exonic ENSG00000146809 NA synonymous SNV ENSG00000146809:ENST00000275699:exon6:c.C633T:p.V211V,ENSG00000146809:ENST00000447789:exon6:c.C633T:p.V211V,ENSG00000146809:ENST00000540573:exon6:c.C633T:p.V211V,ENSG00000146809:ENST00000434204:exon7:c.C633T:p.V211V,ENSG00000146809:ENST00000451215:exon8:c.C633T:p.V211V,ENSG00000146809:ENST00000451558:exon10:c.C633T:p.V211V Score=426;Name=lod=72 NA 7q31.32 NA Name=CTCF,ELF1_(SC-631),Rad21,SMC3_(ab9263),YY1_(C-20),IRF4_(M-17),eGFP-JunD,Znf143_(16618-1-AP),c-Myc,PAX5-C20,CTCF_(C-20),CTCF_(SC-5916),YY1 Name=69 NA rs11769381 0.44 0.44 0.419 0.469649 0.4324 0.5446 0.4193 0.3033 0.6912 0.43 0.57 0.48 0.29 0.4718 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498178 NA NA 0.453605 0.324784 NA 0.312 NA 7.3088616 921 19 3752927 3752927 C T exonic APBA3 NA nonsynonymous SNV APBA3:NM_004886:exon7:c.G1073A:p.R358Q exonic ENSG00000011132 NA nonsynonymous SNV ENSG00000011132:ENST00000316757:exon7:c.G1073A:p.R358Q NA NA 19p13.3 NA NA NA NA rs117197891 0.0032 0.0032 0.007 0.00499201 0.0089 NA 0.0043 0.0008 0.0123 0.01 NA NA NA 0.0069 0.01 0.37 T 0.0 B 0.0 B 0.135 N 1.000 N 0.525 N 0.55 T -1.052 T 0.055 T 0.058 0.458 6.489 -1.63 -0.298 0.035 8.902 0.458359 NA 0.06 0.008958 0.001362 NA NA NA 7.3085754 921 10 16562600 16562600 G A exonic C1QL3 NA synonymous SNV C1QL3:NM_001010908:exon1:c.C465T:p.H155H exonic ENSG00000165985 NA synonymous SNV ENSG00000165985:ENST00000298943:exon1:c.C465T:p.H155H Score=757;Name=lod=1589 NA 10p13 NA NA Name=6 NA rs72772306 0.14 0.14 0.14 0.130192 0.1233 0.1022 0.1182 0.2292 0.0409 0.12 0.11 0.12 0.23 0.1111 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.273095 NA NA 0.124767 0.213118 NA 0.007 NA 7.3074996 921 17 25621352 25621352 C T UTR5 WSB1 NM_134265:c.-70C>T,NM_015626:c.-70C>T NA NA UTR5 ENSG00000109046 ENST00000581440:c.-70C>T,ENST00000262394:c.-70C>T,ENST00000583742:c.-70C>T,ENST00000579733:c.-70C>T,ENST00000583193:c.-70C>T,ENST00000427287:c.-70C>T,ENST00000581185:c.-70C>T,ENST00000348811:c.-70C>T,ENST00000582208:c.-70C>T NA NA Score=378;Name=lod=46 NA 17q11.1 NA Name=Pol2,CTCF,HNF4G_(SC-6558),HA-E2F1,ZNF263,Pol2-4H8,Pol2(b) Name=146 NA rs137948039 0.01 0.01 0.008 0.0117812 0.0149 0.001 0.0115 NA 0.0358 0.01 0.0017 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499288 1.499288 NA 0.011628 0.003613 NA 0.007 NA 7.3068054 921 3 52548818 52548818 C T exonic STAB1 NA synonymous SNV STAB1:NM_015136:exon35:c.C3780T:p.C1260C exonic ENSG00000010327 NA synonymous SNV ENSG00000010327:ENST00000321725:exon35:c.C3780T:p.C1260C Score=346;Name=lod=34 NA 3p21.1 Score=771;Name=V$AHRARNT_02 NA NA NA rs740903 0.12 0.12 0.107 0.163938 0.0934 0.2331 0.1412 0.0461 0.3405 0.08 0.22 0.11 0.07 0.1532 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333189 1.333189 NA 0.113372 0.067635 NA 0.196 NA 7.3066946 921 1 152957832 152957832 C A exonic SPRR1A NA nonsynonymous SNV SPRR1A:NM_001199828:exon2:c.C126A:p.H42Q,SPRR1A:NM_005987:exon2:c.C126A:p.H42Q exonic ENSG00000169474 NA nonsynonymous SNV ENSG00000169474:ENST00000368762:exon1:c.C126A:p.H42Q,ENSG00000169474:ENST00000307122:exon2:c.C126A:p.H42Q Score=414;Name=lod=64 NA 1q21.3 NA NA NA NA rs1611762 0.54 0.54 0.504 0.505391 0.5348 0.5972 0.4395 0.4523 0.499 0.53 0.63 0.5 0.48 0.4921 0.63 0.2 T 0.166 B 0.056 B 0.442 N 1.000 P . . 2.57 T -0.954 T 0.009 T 0.132 1.119 9.564 1.54 0.397 0.156 7.354 1.119172 NA 0.02 NA NA NA 0.442 NA 7.3064334 921 16 1838037 1838037 C G exonic NUBP2 NA synonymous SNV NUBP2:NM_012225:exon5:c.C585G:p.T195T exonic ENSG00000095906 NA synonymous SNV ENSG00000095906:ENST00000543305:exon4:c.C162G:p.T54T,ENSG00000095906:ENST00000568706:exon4:c.C162G:p.T54T,ENSG00000095906:ENST00000262302:exon5:c.C585G:p.T195T,ENSG00000095906:ENST00000562263:exon5:c.C405G:p.T135T,ENSG00000095906:ENST00000565134:exon5:c.C585G:p.T195T,ENSG00000095906:ENST00000565987:exon6:c.C405G:p.T135T Score=495;Name=lod=137 NA 16p13.3 Score=740;Name=V$PAX4_04 NA NA NA rs2272977 0.13 0.13 0.103 0.111821 0.1233 0.1657 0.0937 0.0726 0.1104 0.12 0.18 0.12 0.09 0.1197 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964169 NA NA 0.117326 0.065742 ID=COSM434734;OCCURENCE=1(breast) 0.094 NA 7.3063406 921 1 10421878 10421878 A G exonic KIF1B NA synonymous SNV KIF1B:NM_015074:exon38:c.A4161G:p.P1387P exonic ENSG00000054523 NA synonymous SNV ENSG00000054523:ENST00000263934:exon38:c.A4161G:p.P1387P,ENSG00000054523:ENST00000377081:exon39:c.A4299G:p.P1433P,ENSG00000054523:ENST00000377086:exon40:c.A4299G:p.P1433P Score=498;Name=lod=141 NA 1p36.22 NA NA NA NA rs12125492 0.06 0.06 0.064 0.0802716 0.1223 0.0129 0.0922 0.0045 0.2004 0.13 0.01 0.09 0.01 0.1128 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.412753 1.412753 NA 0.12593 0.020881 NA 0.116 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117407.2;CLNDSDB=.;CLNDSDBID=. 7.3056366 922 17 38122680 38122680 G T exonic GSDMA NA nonsynonymous SNV GSDMA:NM_178171:exon3:c.G382T:p.V128L exonic ENSG00000167914 NA nonsynonymous SNV ENSG00000167914:ENST00000301659:exon3:c.G382T:p.V128L,ENSG00000167914:ENST00000577447:exon3:c.G382T:p.V128L NA NA 17q21.1 NA NA NA NA rs7212938 0.6 0.6 0.647 NA NA NA NA NA NA 0.53 0.55 0.44 0.88 0.5269 0.88 1 T 0.0 B 0.0 B 0.007 N 1.000 P -2.175 N 3.01 T -1.033 T 0.000 T 0.23 1.142 9.654 -2.32 -0.902 -0.611 2.818 1.142349 NA NA 0.501675 0.810311 NA 0.616 NA 7.3047584 922 17 66873743 66873743 G A exonic ABCA8 NA synonymous SNV ABCA8:NM_007168:exon31:c.C3996T:p.P1332P exonic ENSG00000141338 NA synonymous SNV ENSG00000141338:ENST00000269080:exon31:c.C3996T:p.P1332P,ENSG00000141338:ENST00000430352:exon31:c.C4116T:p.P1372P,ENSG00000141338:ENST00000586539:exon33:c.C4116T:p.P1372P Score=435;Name=lod=78 NA 17q24.2 Score=879;Name=V$CEBPB_02 NA NA NA rs8068987 0.13 0.13 0.128 0.154553 0.1243 0.0952 0.111 0.2292 0.1769 0.11 0.08 0.14 0.2 0.1254 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271716 NA NA 0.112326 0.213118 NA 0.152 NA 7.3046406 922 9 117819436 117819436 C T exonic TNC NA synonymous SNV TNC:NM_002160:exon15:c.G4575A:p.T1525T exonic ENSG00000041982 NA synonymous SNV ENSG00000041982:ENST00000542877:exon10:c.G3483A:p.T1161T,ENSG00000041982:ENST00000340094:exon11:c.G3483A:p.T1161T,ENSG00000041982:ENST00000535648:exon11:c.G3483A:p.T1161T,ENSG00000041982:ENST00000341037:exon13:c.G4302A:p.T1434T,ENSG00000041982:ENST00000350763:exon15:c.G4575A:p.T1525T Score=588;Name=lod=327 NA 9q33.1 NA NA NA NA rs17819466 0.06 0.06 0.069 0.0617013 0.1272 0.0079 0.0807 0.0068 0.1104 0.12 0.0035 0.09 0.01 0.1059 0.13 . . . . . . . . 0.000 P . . . . -1.046 T 0.001 T . -0.015 3.938 0.271 0.111 -0.155 3.823 -0.014771 NA NA 0.129535 0.022242 NA 0.007 NA 7.3040316 922 19 49377436 49377436 G C exonic PPP1R15A NA nonsynonymous SNV PPP1R15A:NM_014330:exon2:c.G946C:p.A316P exonic ENSG00000087074 NA nonsynonymous SNV ENSG00000087074:ENST00000200453:exon2:c.G946C:p.A316P NA NA 19q13.33 NA NA NA NA rs556052 0.37 0.37 0.392 0.425719 0.336 0.1151 0.3329 0.7761 0.4305 0.33 0.12 0.34 0.73 0.355 0.73 0.29 T 0.0 B 0.0 B 0.277 N 1.000 P 0.69 N 3.46 T -0.982 T 0.000 T 0.021 0.887 8.601 1.24 -0.076 2.920 7.939 0.886951 NA 0.17 0.338372 0.724013 NA 0.471 NA 7.3039614 922 17 76471366 76471366 G A exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon54:c.C8505T:p.D2835D exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon54:c.C8463T:p.D2821D,ENSG00000187775:ENST00000585328:exon54:c.C8490T:p.D2830D Score=459;Name=lod=98 NA 17q25.3 NA Name=EBF1_(C-8) NA NA rs61746438 0.12 0.12 0.117 0.133387 0.1103 0.1895 0.085 0.0877 0.1953 0.11 0.18 0.09 0.09 0.1335 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041228 NA NA 0.119469 0.083824 NA 0.072 NA 7.3033976 922 11 3681519 3681519 T C exonic ART1 NA nonsynonymous SNV ART1:NM_004314:exon3:c.T770C:p.L257P exonic ENSG00000129744 NA nonsynonymous SNV ENSG00000129744:ENST00000250693:exon3:c.T770C:p.L257P NA NA 11p15.4 NA NA NA NA rs2280134 0.55 0.55 0.551 0.551717 0.6998 0.2877 0.8141 0.4463 0.6278 0.69 0.33 0.75 0.43 0.6454 0.75 . . 0.0 B 0.0 B 0.581 N 1.000 P -1.935 N 3.19 T -1.022 T 0.000 T 0.074 1.14 9.645 4.01 1.108 0.913 4.812 1.139928 NA 0.25 0.684737 0.47592 NA 0.507 NA 7.3033964 922 4 55143577 55143577 G A exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon13:c.G1809A:p.A603A exonic ENSG00000134853,ENSG00000145216 NA synonymous SNV ENSG00000134853:ENST00000257290:exon13:c.G1809A:p.A603A,ENSG00000134853:ENST00000509490:exon13:c.G1809A:p.A603A,ENSG00000145216:ENST00000507166:exon14:c.G1089A:p.A363A NA NA 4q12 Score=847;Name=V$IK1_01 Name=NFKB NA NA rs10028020 0.2 0.2 0.204 0.228035 0.1064 0.1726 0.2666 0.3366 0.2362 0.12 0.18 0.22 0.32 0.1583 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691914 NA NA 0.099419 0.296414 NA 0.275 NA 7.3025476 922 10 98803252 98803252 G A exonic SLIT1 NA synonymous SNV SLIT1:NM_003061:exon19:c.C1872T:p.R624R exonic ENSG00000187122 NA synonymous SNV ENSG00000187122:ENST00000266058:exon19:c.C1872T:p.R624R,ENSG00000187122:ENST00000314867:exon19:c.C1851T:p.R617R,ENSG00000187122:ENST00000371070:exon19:c.C1872T:p.R624R Score=614;Name=lod=418 NA 10q24.1 Score=939;Name=V$GATA1_01 NA NA NA rs35388136 0.06 0.06 0.038 0.0467252 0.1262 NA 0.0634 0.0106 0.0501 0.12 NA 0.07 0.02 0.1006 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073864 NA NA 0.137442 0.024739 NA 0.007 NA 7.3024246 922 19 50475215 50475215 G A ncRNA_intronic SIGLEC16 NA NA NA ncRNA_exonic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs12463034 0.21 0.21 NA 0.19389 0.175 0.3313 0.1542 0.1717 0.1299 0.17 0.3 0.17 0.19 0.1895 0.3 0.29 T . . . . 0.000 N 1.000 P . . . . -1.041 T 0.000 T . 0.223 5.206 -3.83 -3.099 -0.499 5.410 0.223497 NA 0.1 NA NA NA 0.116 NA 7.3021666 922 15 33359370 33359370 C T exonic FMN1 NA nonsynonymous SNV FMN1:NM_001103184:exon1:c.G716A:p.G239E exonic ENSG00000248905 NA nonsynonymous SNV ENSG00000248905:ENST00000334528:exon1:c.G716A:p.G239E,ENSG00000248905:ENST00000558197:exon1:c.G716A:p.G239E NA NA 15q13.3 Score=890;Name=V$HSF1_01 NA NA NA rs11072170 0.28 0.28 0.262 0.260583 0.3569 0.1478 0.4337 0.1929 0.2464 0.37 0.17 0.43 0.17 0.328 0.43 0.32 T 0.009 B 0.005 B . . . . . . 1.35 T -0.907 T 0.000 T 0.058 -2.722 0 0.42 0.141 -0.333 6.681 -2.721836 NA 0.19 0.348622 0.189104 ID=COSM147871;OCCURENCE=1(stomach) 0.297 NA 7.2998114 922 1 167787479 167787479 T C exonic ADCY10 NA nonsynonymous SNV ADCY10:NM_001167749:exon28:c.A3854G:p.N1285S,ADCY10:NM_018417:exon31:c.A4313G:p.N1438S exonic ENSG00000143199 NA nonsynonymous SNV ENSG00000143199:ENST00000545172:exon28:c.A3854G:p.N1285S,ENSG00000143199:ENST00000367848:exon31:c.A4037G:p.N1346S,ENSG00000143199:ENST00000367851:exon31:c.A4313G:p.N1438S NA NA 1q24.2 NA NA NA NA rs41270737 0.01 0.01 0.005 0.00479233 0.0129 NA 0.0115 NA 0.0031 0.01 NA 0.01 NA 0.0082 0.014 0.86 T 0.018 B 0.011 B 0.905 N . . 0.715 N -1.02 T -0.990 T 0.016 T 0.04 -0.493 1.736 0.514 0.088 -0.616 3.882 -0.49291 NA 0 0.013721 0.003404 NA 0.007 NA 7.2985124 922 22 39445554 39445554 G A exonic APOBEC3F NA nonsynonymous SNV APOBEC3F:NM_145298:exon5:c.G691A:p.V231I exonic ENSG00000128394 NA nonsynonymous SNV ENSG00000128394:ENST00000308521:exon5:c.G691A:p.V231I NA NA 22q13.1 NA NA NA NA rs2076101 0.5 0.5 0.465 0.495407 0.4901 0.7113 0.6182 0.1868 0.6084 0.47 0.71 0.65 0.2 0.516 0.71 0.18 T 0.979 D 0.81 P . . 1.000 P 1.765 L -0.19 T -0.936 T 0.000 T 0.024 1.631 11.41 0.462 0.212 0.354 3.917 1.630907 1.630907 0.28 0.529651 0.248071 NA 0.428 NA 7.2975824 922 1 24706292 24706292 T C exonic STPG1 NA nonsynonymous SNV STPG1:NM_178122:exon4:c.A172G:p.I58V,STPG1:NM_001199012:exon5:c.A313G:p.I105V,STPG1:NM_001199013:exon5:c.A313G:p.I105V,STPG1:NM_001199014:exon6:c.A37G:p.I13V exonic ENSG00000001460 NA nonsynonymous SNV ENSG00000001460:ENST00000438866:exon1:c.A22G:p.I8V,ENSG00000001460:ENST00000440416:exon3:c.A172G:p.I58V,ENSG00000001460:ENST00000003583:exon4:c.A172G:p.I58V,ENSG00000001460:ENST00000337248:exon5:c.A313G:p.I105V,ENSG00000001460:ENST00000374409:exon5:c.A313G:p.I105V NA NA 1p36.11 NA NA Name=6 NA rs1142057 0.4 0.4 0.368 0.365615 0.3549 0.4444 0.4841 0.3086 0.2883 0.37 0.44 0.45 0.35 0.3493 0.45 0.55 T 0.002 B 0.01 B 0.666 N 1.000 P 1.01 L . . -0.925 T 0.000 T 0.065 -1.326 0.032 -0.614 -0.090 -0.059 9.343 -1.32642 NA 0.28 0.332791 0.33409 NA 0.246 NA 7.2963424 922 1 68627568 68627568 C A ncRNA_intronic GNG12-AS1 NA NA NA ncRNA_exonic ENSG00000234383 NA NA NA Score=782;Name=lod=2014 NA 1p31.3 NA Name=CTCF Name=8 NA rs74081400 0.37 0.37 0.329 0.349441 0.3708 0.3998 0.4539 0.2345 0.3569 0.36 0.41 0.48 0.26 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.670829 1.670829 NA NA NA NA 0.065 NA 7.2958666 922 11 406473 406473 A C exonic SIGIRR NA synonymous SNV SIGIRR:NM_001135053:exon9:c.T945G:p.P315P,SIGIRR:NM_001135054:exon9:c.T945G:p.P315P,SIGIRR:NM_021805:exon9:c.T945G:p.P315P exonic ENSG00000185187 NA synonymous SNV ENSG00000185187:ENST00000531205:exon8:c.T945G:p.P315P,ENSG00000185187:ENST00000332725:exon9:c.T945G:p.P315P,ENSG00000185187:ENST00000382520:exon9:c.T945G:p.P315P,ENSG00000185187:ENST00000397632:exon9:c.T945G:p.P315P,ENSG00000185187:ENST00000431843:exon9:c.T945G:p.P315P NA NA 11p15.5 NA NA NA NA rs3087588 0.89 0.89 0.845 0.907149 0.7783 0.998 0.8919 0.9115 0.9509 0.78 1 0.88 0.92 0.8314 1 . . . . . . . . 1.000 P . . . . -1.031 T 0.000 T . 0.27 5.462 -6.01 -2.206 -3.243 0.384 0.270359 NA NA 0.761178 0.891542 NA 0.841 NA 7.2957886 923 19 12089364 12089364 G T exonic ZNF763 NA nonsynonymous SNV ZNF763:NM_001012753:exon4:c.G634T:p.V212F exonic ENSG00000197054,ENSG00000267179 NA nonsynonymous SNV ENSG00000197054:ENST00000545530:exon2:c.G259T:p.V87F,ENSG00000197054:ENST00000343949:exon4:c.G634T:p.V212F,ENSG00000197054:ENST00000358987:exon4:c.G625T:p.V209F,ENSG00000197054:ENST00000538752:exon4:c.G685T:p.V229F,ENSG00000267179:ENST00000590798:exon4:c.G685T:p.V229F NA NA 19p13.2 NA NA NA NA rs7249379 NA NA NA 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 NA NA NA NA 0.0168 NA 1 T 0.0 B 0.0 B . . 0.876 N -3 N 3.83 T -0.936 T 0.002 T 0.191 -1.525 0.016 1.28 -0.273 0.923 5.273 -1.525431 NA 1 NA NA NA NA NA 7.2936334 923 11 7441737 7441737 T C exonic SYT9 NA synonymous SNV SYT9:NM_175733:exon6:c.T1338C:p.R446R exonic ENSG00000170743 NA synonymous SNV ENSG00000170743:ENST00000318881:exon6:c.T1338C:p.R446R Score=653;Name=lod=599 NA 11p15.4 Score=865;Name=V$RORA1_01 NA NA NA rs11041372 0.11 0.11 0.106 0.105831 0.1352 0.1131 0.1124 0.0749 0.1053 0.13 0.12 0.11 0.06 0.1132 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.133372 2.133372 NA 0.124651 0.075647 NA 0.087 NA 7.2936156 923 16 55601388 55601388 A G exonic CAPNS2 NA synonymous SNV CAPNS2:NM_032330:exon1:c.A720G:p.E240E exonic ENSG00000256812 NA synonymous SNV ENSG00000256812:ENST00000457326:exon1:c.A720G:p.E240E NA NA 16q12.2 Score=825;Name=V$AP4_01 Name=Pol2 Name=87 NA rs1502003 0.42 0.42 0.426 0.422923 0.4632 0.4087 0.353 0.3775 0.5072 0.44 0.41 0.41 0.42 0.4474 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333295 NA NA 0.463994 0.402091 NA 0.514 NA 7.2920726 923 1 51121198 51121198 T C exonic FAF1 NA synonymous SNV FAF1:NM_007051:exon8:c.A660G:p.V220V exonic ENSG00000185104 NA synonymous SNV ENSG00000185104:ENST00000494400:exon2:c.A78G:p.V26V,ENSG00000185104:ENST00000396153:exon8:c.A660G:p.V220V,ENSG00000185104:ENST00000371778:exon9:c.A660G:p.V220V Score=543;Name=lod=215 NA 1p32.3 Score=745;Name=V$MEF2_04 NA NA NA rs11205753 0.06 0.06 0.04 0.0922524 0.1113 0.001 0.0706 0.0182 0.2822 0.11 0.0017 0.08 0.03 0.1349 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.137175 2.137175 NA 0.128953 0.038357 NA 0.072 NA 7.2915136 923 16 30037128 30037128 A C exonic FAM57B NA synonymous SNV FAM57B:NM_031478:exon4:c.T459G:p.G153G exonic ENSG00000149926 NA synonymous SNV ENSG00000149926:ENST00000564806:exon3:c.T309G:p.G103G,ENSG00000149926:ENST00000279389:exon4:c.T309G:p.G103G,ENSG00000149926:ENST00000380495:exon4:c.T459G:p.G153G Score=583;Name=lod=313 NA 16p11.2 Score=724;Name=V$PAX4_04 NA NA NA rs11544328 0.43 0.43 0.415 0.440296 0.4652 0.377 0.3833 0.472 0.4775 0.46 0.36 0.42 0.46 0.4445 0.47 . . . . . . . . 0.000 P . . . . -0.903 T 0.000 T . 0.524 6.837 0.696 0.200 -0.388 6.491 0.523609 NA NA 0.466163 0.471552 NA 0.413 NA 7.2908036 923 12 48151822 48151822 C G exonic RAPGEF3 NA nonsynonymous SNV RAPGEF3:NM_001098531:exon2:c.G46C:p.A16P exonic ENSG00000079337 NA nonsynonymous SNV ENSG00000079337:ENST00000395358:exon2:c.G46C:p.A16P,ENSG00000079337:ENST00000449771:exon2:c.G46C:p.A16P,ENSG00000079337:ENST00000547856:exon2:c.G46C:p.A16P,ENSG00000079337:ENST00000389212:exon3:c.G46C:p.A16P Score=492;Name=lod=133 NA 12q13.11 NA NA NA NA rs11168230 0.28 0.28 0.26 0.296925 0.335 0.2004 0.2709 0.2988 0.3732 0.33 0.21 0.28 0.28 0.4054 0.35 0.28 T 0.002 B 0.004 B . . 0.000 P 0.55 N 0.02 T -1.010 T 0.000 T 0.389 3.029 16.11 1.99 0.540 0.843 4.294 3.029273 3.029273 0.06 0.302244 0.271998 NA 0.254 NA 7.2906894 923 1 165532948 165532948 C T exonic LRRC52 NA nonsynonymous SNV LRRC52:NM_001005214:exon2:c.C829T:p.R277C exonic ENSG00000162763 NA nonsynonymous SNV ENSG00000162763:ENST00000294818:exon2:c.C829T:p.R277C NA NA 1q24.1 NA NA NA NA rs115506989 0.01 0.01 0.005 0.00758786 0.0189 NA 0.0159 0.0015 0.0061 0.02 NA 0.02 NA 0.0098 0.022 0.06 T 0.016 B 0.004 B 0.578 N 0.998 N 0.205 N -0.21 T -1.038 T 0.058 T 0.05 0.624 7.355 0.939 0.331 0.515 3.465 0.623697 NA NA 0.015465 0.002043 NA 0.014 NA 7.2891684 923 3 122288314 122288314 A G exonic DTX3L NA nonsynonymous SNV DTX3L:NM_138287:exon3:c.A1378G:p.K460E exonic ENSG00000163840 NA nonsynonymous SNV ENSG00000163840:ENST00000296161:exon3:c.A1378G:p.K460E NA NA 3q21.1 NA NA NA NA rs34308498 0.01 0.01 0.006 0.00559105 0.0149 NA 0.0086 0.0015 0.0051 0.02 NA 0.01 0.0041 0.0126 0.02 0.28 T 0.325 B 0.014 B 0.005 N 1.000 N 1.845 L 1.55 T -1.070 T 0.027 T 0.139 2.025 12.73 1.68 0.501 0.159 6.722 2.025361 2.025361 0.38 0.01686 0.002497 NA 0.007 NA 7.2889734 923 7 51096036 51096036 G C exonic COBL NA nonsynonymous SNV COBL:NM_015198:exon10:c.C2757G:p.H919Q exonic ENSG00000106078 NA nonsynonymous SNV ENSG00000106078:ENST00000431948:exon9:c.C2412G:p.H804Q,ENSG00000106078:ENST00000445054:exon9:c.C2433G:p.H811Q,ENSG00000106078:ENST00000265136:exon10:c.C2757G:p.H919Q,ENSG00000106078:ENST00000395542:exon12:c.C3003G:p.H1001Q NA NA 7p12.1 NA NA NA NA rs2240089 0.2 0.2 0.197 0.200879 0.1889 0.3095 0.1556 0.1104 0.2556 0.19 0.3 0.17 0.12 0.1821 0.3 0.41 T 0.829 P 0.287 B 0.002 N 1.000 P 1.355 L 2.77 T -0.938 T 0.000 T 0.013 1.156 9.706 0.382 0.139 0.090 8.146 1.155696 NA 0.35 0.173953 0.107354 NA 0.116 NA 7.2883804 923 4 57215803 57215803 G A exonic AASDH NA nonsynonymous SNV AASDH:NM_181806:exon11:c.C2114T:p.A705V exonic ENSG00000157426 NA nonsynonymous SNV ENSG00000157426:ENST00000434343:exon8:c.C659T:p.A220V,ENSG00000157426:ENST00000513376:exon10:c.C1814T:p.A605V,ENSG00000157426:ENST00000602986:exon10:c.C1655T:p.A552V,ENSG00000157426:ENST00000205214:exon11:c.C2114T:p.A705V,ENSG00000157426:ENST00000451613:exon11:c.C2114T:p.A705V,ENSG00000157426:ENST00000502617:exon11:c.C2114T:p.A705V NA NA 4q12 NA NA NA NA rs150162083 0.01 0.01 0.005 0.0071885 0.0139 NA 0.0029 0.0023 0.0174 0.01 NA 0.0028 0.0041 0.014 0.022 1 T 0.019 B 0.011 B 0.390 N 1.000 N 1.06 L 2.67 T -0.942 T 0.009 T 0.046 -0.043 3.794 1.47 0.048 0.727 4.369 -0.043162 NA 0.64 0.018721 0.003404 NA 0.014 NA 7.2867124 923 1 45973928 45973928 G A exonic MMACHC NA synonymous SNV MMACHC:NM_015506:exon3:c.G321A:p.V107V exonic ENSG00000132763 NA synonymous SNV ENSG00000132763:ENST00000401061:exon3:c.G321A:p.V107V Score=632;Name=lod=495 NA 1p34.1 NA Name=Pol2 NA NA rs2275276 0.49 0.49 0.492 0.47524 0.4771 0.5952 0.4957 0.3654 0.4836 0.47 0.58 0.53 0.39 0.4664 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594646 NA NA 0.436974 0.372335 NA 0.42 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081738.1|RCV000126793.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.2861926 924 3 153840162 153840162 C T exonic ARHGEF26 NA synonymous SNV ARHGEF26:NM_001251962:exon2:c.C381T:p.S127S,ARHGEF26:NM_001251963:exon2:c.C381T:p.S127S,ARHGEF26:NM_015595:exon2:c.C381T:p.S127S exonic ENSG00000114790 NA synonymous SNV ENSG00000114790:ENST00000356448:exon2:c.C381T:p.S127S,ENSG00000114790:ENST00000465093:exon2:c.C381T:p.S127S,ENSG00000114790:ENST00000465817:exon2:c.C381T:p.S127S,ENSG00000114790:ENST00000496710:exon2:c.C381T:p.S127S NA NA 3q25.2 Score=762;Name=V$STAT3_01 NA Name=4 NA rs13073165 0.22 0.22 0.173 0.201478 0.1064 0.3363 0.3084 0.1135 0.2035 0.11 0.39 0.3 0.14 0.1697 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181057 NA NA 0.106061 0.105439 ID=COSM445828,COSM445830,COSM445829;OCCURENCE=1(breast) 0.181 NA 7.2845056 924 11 5528918 5528918 C T exonic UBQLN3 NA nonsynonymous SNV UBQLN3:NM_017481:exon2:c.G1871A:p.R624Q exonic ENSG00000175520 NA nonsynonymous SNV ENSG00000175520:ENST00000311659:exon2:c.G1871A:p.R624Q NA NA 11p15.4 NA NA NA NA rs2227271 0.22 0.22 0.206 0.183906 0.3698 0.0516 0.3329 0.0552 0.1973 0.36 0.07 0.34 0.09 0.3 0.38 0.04 D 0.045 B 0.025 B 0.015 N 1.000 P 0.98 L 1.82 T -0.933 T 0.000 T 0.036 1.052 9.298 1.23 0.429 0.537 6.845 1.052279 NA 0.13 0.379567 0.101545 ID=COSM429159;OCCURENCE=1(breast) 0.254 NA 7.2839664 924 21 10910311 10910311 T G exonic TPTE NA nonsynonymous SNV TPTE:NM_199260:exon20:c.A1331C:p.Y444S,TPTE:NM_199259:exon21:c.A1391C:p.Y464S,TPTE:NM_199261:exon22:c.A1445C:p.Y482S exonic ENSG00000166157 NA nonsynonymous SNV ENSG00000166157:ENST00000342420:exon20:c.A1331C:p.Y444S,ENSG00000166157:ENST00000298232:exon21:c.A1391C:p.Y464S,ENSG00000166157:ENST00000361285:exon22:c.A1445C:p.Y482S NA NA 21p11.1 NA NA NA NA rs9996 NA NA 0.549 0.611222 0.5099 0.5466 0.5288 0.8328 0.5409 NA NA NA NA 0.5396 0.55 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.225 N -1.78 D -0.862 T 0.100 T 0.174 -3.2 0.001 1.32 0.068 0.267 4.764 -3.199556 NA 1 NA NA NA 0.478 NA 7.2838334 924 10 105362209 105362209 T C exonic SH3PXD2A NA synonymous SNV SH3PXD2A:NM_014631:exon14:c.A2682G:p.K894K exonic ENSG00000107957 NA synonymous SNV ENSG00000107957:ENST00000538130:exon9:c.A2271G:p.K757K,ENSG00000107957:ENST00000540321:exon9:c.A2367G:p.K789K,ENSG00000107957:ENST00000355946:exon14:c.A2682G:p.K894K,ENSG00000107957:ENST00000369774:exon15:c.A2766G:p.K922K Score=487;Name=lod=127 NA 10q24.33 NA NA NA NA rs4917396 0.89 0.89 0.915 0.91254 0.7624 0.999 0.8876 0.9743 0.9121 0.77 1 0.86 0.97 0.839 1 . . . . . . . . 0.000 P . . . . -1.008 T 0.000 T . -1.311 0.035 2.62 0.471 1.153 7.201 -1.311184 NA NA 0.781744 0.936223 NA 0.884 NA 7.2835226 924 17 76867017 76867017 C T exonic TIMP2 NA synonymous SNV TIMP2:NM_003255:exon3:c.G303A:p.S101S exonic ENSG00000035862,ENSG00000178404 NA synonymous SNV ENSG00000035862:ENST00000586057:exon2:c.G72A:p.S24S,ENSG00000035862:ENST00000592761:exon2:c.G72A:p.S24S,ENSG00000035862:ENST00000262768:exon3:c.G303A:p.S101S,ENSG00000035862:ENST00000536189:exon3:c.G72A:p.S24S,ENSG00000035862:ENST00000585421:exon3:c.G72A:p.S24S,ENSG00000178404:ENST00000586713:exon5:c.G72A:p.S24S Score=446;Name=lod=87 NA 17q25.3 Score=817;Name=V$CMYB_01 NA NA NA rs2277698 0.15 0.15 0.15 0.16893 0.1252 0.2639 0.1196 0.1006 0.2434 0.13 0.24 0.12 0.12 0.1382 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486442 1.486442 NA 0.120233 0.095325 NA 0.145 NA 7.2830336 924 1 247835908 247835908 T A exonic OR13G1 NA nonsynonymous SNV OR13G1:NM_001005487:exon1:c.A436T:p.M146L exonic ENSG00000197437 NA nonsynonymous SNV ENSG00000197437:ENST00000359688:exon1:c.A436T:p.M146L NA NA 1q44 NA NA NA NA rs28556931 0.31 0.31 0.317 0.330272 0.3519 0.376 0.2392 0.2995 0.3671 0.35 0.32 0.24 0.28 0.3384 0.36 0.02 D 0.03 B 0.063 B 0.015 N 1.000 P -1.175 N 1.34 T -0.918 T 0.000 T 0.143 1.407 10.64 -1.12 -0.302 0.305 0.916 1.406508 1.406508 0.06 0.360233 0.300499 NA 0.377 NA 7.2828004 924 11 48145166 48145166 G A exonic PTPRJ NA synonymous SNV PTPRJ:NM_001098503:exon5:c.G618A:p.E206E,PTPRJ:NM_002843:exon5:c.G618A:p.E206E exonic ENSG00000149177 NA synonymous SNV ENSG00000149177:ENST00000527952:exon4:c.G354A:p.E118E,ENSG00000149177:ENST00000418331:exon5:c.G618A:p.E206E,ENSG00000149177:ENST00000440289:exon5:c.G618A:p.E206E Score=333;Name=lod=30 NA 11p11.2 NA Name=c-Fos NA NA rs2270993 0.15 0.15 0.137 0.155551 0.1183 0.1597 0.1095 0.2337 0.1166 0.12 0.16 0.1 0.23 0.1403 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605637 NA NA 0.127617 0.232849 ID=COSM147186;OCCURENCE=1(stomach) 0.167 NA 7.2804496 924 8 139165289 139165289 T C exonic FAM135B NA nonsynonymous SNV FAM135B:NM_015912:exon13:c.A1429G:p.I477V exonic ENSG00000147724 NA nonsynonymous SNV ENSG00000147724:ENST00000276737:exon13:c.A1429G:p.I477V,ENSG00000147724:ENST00000395297:exon13:c.A1429G:p.I477V NA NA 8q24.23 NA NA NA NA rs7835830 0.72 0.72 0.71 0.718251 0.6869 0.7718 0.7435 0.6785 0.7311 0.69 0.79 0.7 0.72 0.6997 0.79 0.46 T 0.003 B 0.004 B 0.001 N 1.000 P 0.895 L 2.58 T -0.983 T 0.000 T 0.021 -0.468 1.839 -2.29 -0.180 -1.417 4.473 -0.467949 NA 0.94 0.666868 0.701001 NA 0.79 NA 7.2798654 924 4 9998493 9998493 A G exonic SLC2A9 NA synonymous SNV SLC2A9:NM_020041:exon3:c.T322C:p.L108L,SLC2A9:NM_001001290:exon4:c.T235C:p.L79L exonic ENSG00000109667 NA synonymous SNV ENSG00000109667:ENST00000264784:exon3:c.T322C:p.L108L,ENSG00000109667:ENST00000309065:exon4:c.T235C:p.L79L,ENSG00000109667:ENST00000513129:exon4:c.T235C:p.L79L,ENSG00000109667:ENST00000506583:exon5:c.T235C:p.L79L Score=446;Name=lod=87 NA 4p16.1 Score=776;Name=V$ER_Q6 Name=FOSL2,FOXA1_(C-20),FOXA1_(SC-101058),GR Name=43 NA rs13113918 0.84 0.84 0.845 0.820687 0.8002 0.9722 0.7219 0.7784 0.8129 0.82 0.99 0.73 0.78 0.8015 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29224 1.29224 NA 0.785349 0.776441 NA 0.841 NA 7.2796176 924 11 1156646 1156646 C G intergenic MUC2,MUC5B dist=52229;dist=87649 NA NA exonic ENSG00000215182 NA nonsynonymous SNV ENSG00000215182:ENST00000534821:exon6:c.C663G:p.S221R,ENSG00000215182:ENST00000356191:exon10:c.C655G:p.R219G NA NA 11p15.5 NA NA NA NA rs35783651 0.12 0.12 0.107 0.103435 0.1998 0.003 0.0965 0.1437 0.0583 0.2 0.0035 0.12 0.14 0.1466 0.21 0.03 D 0.834 P 0.517 P . . . . 1.59 L 2.23 T -1.014 T 0.000 T 0.374 -0.877 0.488 0.102 -0.070 0.850 8.805 -0.876505 NA 0.5 0.207538 0.154857 ID=COSM428456;OCCURENCE=2(breast) 0.109 NA 7.2793954 924 21 46927489 46927489 A G exonic COL18A1 NA synonymous SNV COL18A1:NM_030582:exon38:c.A3762G:p.T1254T,COL18A1:NM_130445:exon39:c.A3222G:p.T1074T exonic ENSG00000182871 NA synonymous SNV ENSG00000182871:ENST00000342220:exon19:c.A1275G:p.T425T,ENSG00000182871:ENST00000355480:exon37:c.A3771G:p.T1257T,ENSG00000182871:ENST00000359759:exon37:c.A4476G:p.T1492T,ENSG00000182871:ENST00000400337:exon38:c.A3231G:p.T1077T NA NA 21q22.3 NA Name=ERalpha_a,Max,CTCF Name=6 NA rs12483761 0.13 0.13 0.091 0.118411 0.1332 0.0278 0.2176 0.1551 0.0767 0.14 0.03 0.21 0.17 0.1241 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974425 NA 0 0.131901 0.140408 NA 0.181 NA 7.2774656 924 11 6412931 6412931 T C exonic SMPD1 NA synonymous SNV SMPD1:NM_000543:exon2:c.T636C:p.D212D,SMPD1:NM_001007593:exon2:c.T633C:p.D211D exonic ENSG00000166311 NA synonymous SNV ENSG00000166311:ENST00000299397:exon2:c.T636C:p.D212D,ENSG00000166311:ENST00000342245:exon2:c.T636C:p.D212D,ENSG00000166311:ENST00000356761:exon2:c.T636C:p.D212D,ENSG00000166311:ENST00000527275:exon2:c.T633C:p.D211D,ENSG00000166311:ENST00000533123:exon2:c.T636C:p.D212D,ENSG00000166311:ENST00000534405:exon2:c.T636C:p.D212D Score=561;Name=lod=255 NA 11p15.4 NA NA NA NA rs7951904 0.11 0.11 0.084 0.128195 0.1243 0.004 0.0994 0.2118 0.1677 0.11 0.0035 0.11 0.22 0.131 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089748 NA NA 0.134606 0.183864 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079197.1;CLNDSDB=.;CLNDSDBID=. 7.2767606 924 11 101323770 101323770 C T exonic TRPC6 NA synonymous SNV TRPC6:NM_004621:exon13:c.G2712A:p.Q904Q exonic ENSG00000137672 NA synonymous SNV ENSG00000137672:ENST00000348423:exon11:c.G2364A:p.Q788Q,ENSG00000137672:ENST00000360497:exon12:c.G2547A:p.Q849Q,ENSG00000137672:ENST00000532133:exon12:c.G2478A:p.Q826Q,ENSG00000137672:ENST00000344327:exon13:c.G2712A:p.Q904Q Score=661;Name=lod=648 NA 11q22.1 Score=810;Name=V$GFI1_01 NA NA NA rs12805398 0.09 0.09 0.089 0.0748802 0.1501 0.0724 0.0677 0.0068 0.0971 0.16 0.08 0.07 0.01 0.1073 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1808 NA NA 0.132791 0.027009 NA 0.058 NA 7.2764756 924 1 228509427 228509427 A G exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon55:c.A14885G:p.D4962G,ENSG00000154358:ENST00000366709:exon55:c.A6242G:p.D2081G,ENSG00000154358:ENST00000422127:exon55:c.A14885G:p.D4962G,ENSG00000154358:ENST00000366707:exon61:c.A7787G:p.D2596G,ENSG00000154358:ENST00000570156:exon66:c.A17756G:p.D5919G NA NA 1q42.13 Score=821;Name=V$AP4_01 NA NA NA rs373610 0.71 0.71 0.699 0.684704 0.674 0.7044 0.6758 0.8684 0.4335 0.67 0.68 0.68 0.85 0.6862 0.85 0.42 T 0.0 B 0.0 B 0.125 N 1.000 P 0.08 N -0.27 T -1.006 T 0.000 T 0.073 1.125 9.585 1.91 0.244 2.094 4.77 1.124627 NA 0.38 0.696789 0.824399 NA 0.652 NA 7.2763444 924 1 2430617 2430617 C T exonic PLCH2 NA synonymous SNV PLCH2:NM_014638:exon19:c.C2529T:p.I843I exonic ENSG00000149527 NA synonymous SNV ENSG00000149527:ENST00000288766:exon5:c.C393T:p.I131I,ENSG00000149527:ENST00000378488:exon18:c.C2421T:p.I807I,ENSG00000149527:ENST00000378486:exon19:c.C2529T:p.I843I,ENSG00000149527:ENST00000419816:exon19:c.C2529T:p.I843I,ENSG00000149527:ENST00000449969:exon19:c.C2448T:p.I816I Score=534;Name=lod=198 NA 1p36.32 NA NA NA NA rs2296442 0.44 0.44 0.414 0.366613 0.4821 0.4812 0.4481 0.1725 0.3344 0.49 0.55 0.46 0.2 0.4352 0.55 . . . . . . . . 0.000 P . . . . -0.928 T 0.000 T . 0.119 4.641 -1.71 -0.659 -1.564 11.363 0.119174 NA NA 0.473678 0.215207 NA 0.275 NA 7.2756886 924 19 48248834 48248834 T C exonic GLTSCR2 NA synonymous SNV GLTSCR2:NM_015710:exon1:c.T18C:p.S6S exonic ENSG00000105373 NA synonymous SNV ENSG00000105373:ENST00000246802:exon1:c.T18C:p.S6S NA NA 19q13.33 NA Name=ZNF263,Pol2-4H8,YY1,Pol2(b),TBP,IRF1,THAP1_(SC-98174),GTF2B,USF-1,Nrf1,CCNT2,c-Myc,HEY1,NFKB,YY1_(C-20),TAF7_(SQ-8),eGFP-JunD,Pol2,SP1,Pol2(phosphoS2),POU2F2,GABP,HMGN3,TAF1,ETS1,SP2_(SC-643),GTF2F1_(RAP-74),Oct-2,Max,STAT1,ELF1_(SC-631) Name=148 NA rs10404034 0.06 0.06 0.049 0.0601038 0.1382 0.0089 0.062 0.0091 0.1002 0.14 0.01 0.06 0.02 0.11 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715938 NA NA 0.143023 0.038811 NA 0.123 NA 7.2754436 924 19 45396144 45396144 C T exonic TOMM40 NA synonymous SNV TOMM40:NM_001128917:exon3:c.C393T:p.F131F,TOMM40:NM_001128916:exon4:c.C393T:p.F131F,TOMM40:NM_006114:exon4:c.C393T:p.F131F exonic ENSG00000130204 NA synonymous SNV ENSG00000130204:ENST00000426677:exon3:c.C393T:p.F131F,ENSG00000130204:ENST00000252487:exon4:c.C393T:p.F131F,ENSG00000130204:ENST00000405636:exon4:c.C393T:p.F131F,ENSG00000130204:ENST00000589649:exon4:c.C393T:p.F131F,ENSG00000130204:ENST00000592434:exon4:c.C393T:p.F131F Score=490;Name=lod=131 NA 19q13.32 NA Name=Pol2 NA NA rs11556505 0.13 0.13 0.113 0.114018 0.1312 0.0962 0.1052 0.1112 0.1247 0.13 0.11 0.14 0.14 0.1286 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.476696 1.476696 NA 0.13186 0.117113 NA 0.101 NA 7.2750066 925 3 170214282 170214282 G A intronic SLC7A14 NA NA NA ncRNA_exonic ENSG00000241416 NA NA NA Score=646;Name=lod=565 NA 3q26.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=3 NA rs16834205 0.08 0.08 0.083 0.0758786 0.0596 0.1379 0.1081 0.0189 0.0828 0.06 0.17 0.08 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988744 NA NA NA NA NA 0.138 NA 7.2737333 925 6 123869607 123869607 G C exonic TRDN NA nonsynonymous SNV TRDN:NM_001251987:exon3:c.C383G:p.T128S,TRDN:NM_001256020:exon3:c.C383G:p.T128S,TRDN:NM_001256021:exon3:c.C383G:p.T128S,TRDN:NM_001256022:exon3:c.C383G:p.T128S,TRDN:NM_006073:exon3:c.C383G:p.T128S exonic ENSG00000186439 NA nonsynonymous SNV ENSG00000186439:ENST00000334268:exon3:c.C383G:p.T128S,ENSG00000186439:ENST00000398178:exon3:c.C383G:p.T128S,ENSG00000186439:ENST00000542443:exon3:c.C383G:p.T128S,ENSG00000186439:ENST00000546248:exon3:c.C383G:p.T128S Score=369;Name=lod=42 NA 6q22.31 NA NA NA NA rs9490809 0.38 0.38 0.404 0.392971 0.5298 0.0813 0.3372 0.5363 0.4192 0.52 0.08 0.38 0.52 0.4926 0.55 0.62 T 0.874 P 0.443 B 0.362 N 1.000 P 1.78 L 0.58 T -1.071 T 0.096 T 0.084 -1.142 0.108 1.97 0.376 -0.006 4.223 -1.141849 NA 0.26 0.53747 0.549468 NA 0.406 NA 7.2734634 925 1 210334081 210334081 T C exonic SYT14 NA synonymous SNV SYT14:NM_153262:exon8:c.T1362C:p.Y454Y,SYT14:NM_001146262:exon9:c.T1419C:p.Y473Y,SYT14:NM_001146264:exon9:c.T1497C:p.Y499Y,SYT14:NM_001256006:exon9:c.T1248C:p.Y416Y,SYT14:NM_001146261:exon10:c.T1554C:p.Y518Y exonic ENSG00000143469 NA synonymous SNV ENSG00000143469:ENST00000367015:exon8:c.T1248C:p.Y416Y,ENSG00000143469:ENST00000472886:exon8:c.T1362C:p.Y454Y,ENSG00000143469:ENST00000367019:exon9:c.T1419C:p.Y473Y,ENSG00000143469:ENST00000534859:exon9:c.T1440C:p.Y480Y,ENSG00000143469:ENST00000537238:exon9:c.T1248C:p.Y416Y,ENSG00000143469:ENST00000422431:exon10:c.T1554C:p.Y518Y Score=510;Name=lod=158 NA 1q32.2 NA NA NA NA rs17188183 0.08 0.08 0.06 0.0752796 0.1402 0.0486 0.0677 0.0121 0.1268 0.14 0.06 0.09 0.02 0.1183 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292188 NA NA 0.13593 0.026555 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118573.2;CLNDSDB=.;CLNDSDBID=. 7.2722366 925 1 9011586 9011586 T G intronic CA6 NA NA NA exonic ENSG00000131686 NA nonsynonymous SNV ENSG00000131686:ENST00000319474:exon3:c.T364G:p.W122G,ENSG00000131686:ENST00000480186:exon3:c.T364G:p.W122G NA NA 1p36.23 NA NA Name=3 NA rs3765968 0.66 0.66 0.65 0.650359 0.6352 0.7014 0.5533 0.7133 0.5971 0.61 0.72 0.6 0.73 0.6239 0.73 1 T . . . . . . 1.000 P . . 1.32 T -0.917 T 0.000 T 0.085 -2.721 0 -1.95 -4.013 -3.701 1.188 -2.721198 NA 0.57 0.63561 0.71347 NA 0.514 NA 7.2719567 925 16 56660841 56660841 C T exonic MT1E NA synonymous SNV MT1E:NM_175617:exon3:c.C144T:p.C48C exonic ENSG00000169715 NA synonymous SNV ENSG00000169715:ENST00000568293:exon2:c.C78T:p.C26C,ENSG00000169715:ENST00000306061:exon3:c.C144T:p.C48C Score=532;Name=lod=194 NA 16q12.2 NA Name=Pol2 NA NA rs72818418 0.1 0.1 0.093 0.111222 0.1262 0.0139 0.1124 0.1346 0.1636 0.13 0.0035 0.1 0.14 0.1347 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917737 NA NA 0.134186 0.134895 NA 0.181 NA 7.2715806 925 19 34584137 34584137 A G intergenic KCTD15,LSM14A dist=277471;dist=79215 NA NA ncRNA_exonic ENSG00000186008 NA NA NA Score=809;Name=lod=2593 NA 19q13.11 NA NA NA NA rs574004 0.33 0.33 0.303 0.33127 0.3519 0.2966 0.2795 0.3752 0.3231 0.33 0.29 0.31 0.38 0.3768 0.38 0 D 0.026 B 0.022 B 0.000 U 0.001 P . . . . -0.976 T 0.000 T 0.606 2.042 12.79 0.505 0.428 2.866 5.262 2.04229 2.04229 0 NA NA NA 0.348 NA 7.2713 925 5 178507090 178507090 G A exonic ZNF354C NA nonsynonymous SNV ZNF354C:NM_014594:exon5:c.G1657A:p.E553K exonic ENSG00000177932 NA nonsynonymous SNV ENSG00000177932:ENST00000315475:exon5:c.G1657A:p.E553K NA NA 5q35.3 NA NA NA NA rs1445845 0.76 0.76 0.768 0.775958 0.666 0.8879 0.7406 0.7368 0.8517 0.68 0.9 0.75 0.75 0.7194 0.9 0.79 T 0.001 B 0.002 B . . 1.000 P -0.13 N 3.54 T -1.022 T 0.000 T 0.137 2.462 14.19 2.62 1.043 0.403 9.140 2.462234 2.462234 0.32 0.676799 0.719579 NA 0.703 NA 7.2711344 925 8 95161102 95161102 G A exonic CDH17 NA synonymous SNV CDH17:NM_001144663:exon14:c.C1797T:p.S599S,CDH17:NM_004063:exon14:c.C1797T:p.S599S exonic ENSG00000079112 NA synonymous SNV ENSG00000079112:ENST00000441892:exon10:c.C1155T:p.S385S,ENSG00000079112:ENST00000027335:exon14:c.C1797T:p.S599S,ENSG00000079112:ENST00000450165:exon14:c.C1797T:p.S599S Score=329;Name=lod=29 NA 8q22.1 Score=833;Name=V$POU3F2_01 NA NA NA rs35792427 0.13 0.13 0.11 0.126797 0.1143 0.1587 0.2305 0.0106 0.1902 0.12 0.15 0.24 0.02 0.1457 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93494 NA NA 0.135581 0.030413 NA 0.123 NA 7.2710856 925 2 224462310 224462310 G A exonic SCG2 NA nonsynonymous SNV SCG2:NM_003469:exon2:c.C1691T:p.P564L exonic ENSG00000171951 NA nonsynonymous SNV ENSG00000171951:ENST00000305409:exon2:c.C1691T:p.P564L NA NA 2q36.1 NA NA NA NA rs36043001 0.01 0.01 0.01 0.0061901 0.0209 NA 0.0115 0.0008 0.001 0.02 NA 0.01 0.002 0.0152 0.026 0.13 T 0.001 B 0.001 B 0.910 N 1.000 N -0.69 N 4.81 T -0.911 T 0.001 T 0.039 0.475 6.578 0.4 0.004 0.394 4.706 0.474933 NA 0.18 0.026512 0.003177 NA 0.029 NA 7.2707214 925 8 41583294 41583294 C T exonic ANK1 NA synonymous SNV ANK1:NM_000037:exon6:c.G597A:p.P199P,ANK1:NM_001142446:exon6:c.G696A:p.P232P,ANK1:NM_020475:exon6:c.G597A:p.P199P,ANK1:NM_020476:exon6:c.G597A:p.P199P,ANK1:NM_020477:exon6:c.G597A:p.P199P exonic ENSG00000029534 NA synonymous SNV ENSG00000029534:ENST00000265709:exon6:c.G696A:p.P232P,ENSG00000029534:ENST00000289734:exon6:c.G597A:p.P199P,ENSG00000029534:ENST00000347528:exon6:c.G597A:p.P199P,ENSG00000029534:ENST00000352337:exon6:c.G597A:p.P199P,ENSG00000029534:ENST00000379758:exon6:c.G597A:p.P199P,ENSG00000029534:ENST00000396942:exon6:c.G597A:p.P199P,ENSG00000029534:ENST00000396945:exon6:c.G597A:p.P199P NA NA 8p11.21 Score=903;Name=V$CP2_01 NA Name=3 NA rs2304873 0.11 0.11 0.104 0.105032 0.1213 0.1577 0.0893 0.0151 0.1667 0.11 0.17 0.12 0.02 0.1382 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.278498 1.278498 NA 0.136776 0.034303 NA 0.072 NA 7.2703906 925 15 59499228 59499228 C T exonic LDHAL6B NA nonsynonymous SNV LDHAL6B:NM_033195:exon1:c.C89T:p.P30L exonic ENSG00000171989 NA nonsynonymous SNV ENSG00000171989:ENST00000307144:exon1:c.C89T:p.P30L NA NA 15q22.2 NA NA NA NA rs3809529 0.45 0.45 0.432 0.491214 0.34 0.6131 0.4409 0.4735 0.5808 0.34 0.63 0.4 0.44 0.4019 0.63 0.27 T 0.014 B 0.002 B 0.658 U 0.003 P 0.895 L -0.35 T -0.915 T 0.000 T 0.168 0.657 7.523 1.49 0.710 1.945 6.800 0.657174 NA 0.31 0.321212 0.4288 NA 0.406 NA 7.2702214 925 15 51529112 51529112 T C exonic CYP19A1 NA synonymous SNV CYP19A1:NM_000103:exon3:c.A240G:p.V80V,CYP19A1:NM_031226:exon4:c.A240G:p.V80V exonic ENSG00000137869 NA synonymous SNV ENSG00000137869:ENST00000405913:exon2:c.A240G:p.V80V,ENSG00000137869:ENST00000559878:exon2:c.A240G:p.V80V,ENSG00000137869:ENST00000260433:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000396402:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000557858:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000557934:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000558328:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000559646:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000561075:exon3:c.A240G:p.V80V,ENSG00000137869:ENST00000396404:exon4:c.A240G:p.V80V,ENSG00000137869:ENST00000405011:exon4:c.A240G:p.V80V,ENSG00000137869:ENST00000439712:exon4:c.A240G:p.V80V,ENSG00000137869:ENST00000453807:exon4:c.A240G:p.V80V,ENSG00000137869:ENST00000559980:exon5:c.A240G:p.V80V Score=539;Name=lod=206 NA 15q21.2 Score=810;Name=V$CDPCR3_01 NA Name=11 NA rs700518 0.37 0.37 0.361 0.325879 0.4692 0.4385 0.3156 0.1619 0.2914 0.48 0.45 0.33 0.13 0.4253 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.056459 NA NA 0.50198 0.214253 ID=COSM147905;OCCURENCE=1(stomach),1(prostate) 0.29 NA 7.2701866 925 12 121416622 121416622 C G exonic HNF1A NA synonymous SNV HNF1A:NM_000545:exon1:c.C51G:p.L17L exonic ENSG00000135100 NA synonymous SNV ENSG00000135100:ENST00000257555:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000400024:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000402929:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000538626:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000538646:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000540108:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000541395:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000541924:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000544413:exon1:c.C51G:p.L17L,ENSG00000135100:ENST00000544574:exon1:c.C51G:p.L17L Score=536;Name=lod=202 NA 12q24.31 NA Name=TAF1 NA NA rs1169289 0.41 0.41 0.414 0.428514 0.4692 0.3819 0.438 0.3169 0.5787 0.46 0.41 0.47 0.29 0.4722 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771022 NA NA 0.455869 0.342572 ID=COSM430521;OCCURENCE=1(breast) 0.29 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117231.2|RCV000125369.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.2693976 925 3 194373832 194373832 T C exonic LSG1 NA nonsynonymous SNV LSG1:NM_018385:exon8:c.A799G:p.K267E exonic ENSG00000041802 NA nonsynonymous SNV ENSG00000041802:ENST00000265245:exon8:c.A799G:p.K267E NA NA 3q29 NA NA NA NA rs1675953 0.56 0.56 0.616 0.634585 0.7038 0.8651 0.6297 0.3253 0.7474 0.61 0.76 0.57 0.26 0.677 0.76 1 T 0.0 B 0.0 B 0.619 N 1.000 P -1.385 N 0.98 T -0.952 T 0.000 T 0.051 -0.28 2.66 4.34 1.431 0.516 8.577 -0.280053 NA 1 0.683721 0.401725 NA NA NA 7.2688124 925 11 60291413 60291413 C T exonic MS4A13 NA nonsynonymous SNV MS4A13:NM_001012417:exon4:c.C173T:p.P58L,MS4A13:NM_001100909:exon4:c.C173T:p.P58L exonic ENSG00000204979 NA nonsynonymous SNV ENSG00000204979:ENST00000378185:exon4:c.C173T:p.P58L,ENSG00000204979:ENST00000378186:exon4:c.C173T:p.P58L NA NA 11q12.2 NA NA NA NA rs6591595 0.74 0.74 0.747 0.728834 0.8787 0.7242 0.6859 0.6059 0.7761 0.88 0.72 0.7 0.6 0.8185 0.88 0.02 D 0.962 D 0.579 P 0.713 N 1.000 P 1.79 L 4.19 T -0.976 T 0.000 T 0.116 2.028 12.74 1.32 0.316 -0.211 6.865 2.027638 2.027638 0.06 0.867397 0.640781 NA 0.775 NA 7.2687364 925 13 101833450 101833450 C T intronic NALCN NA NA NA exonic ENSG00000102452 NA nonsynonymous SNV ENSG00000102452:ENST00000376196:exon15:c.G2003A:p.R668Q NA NA 13q33.1 NA NA NA NA rs896560 0.17 0.17 0.17 0.186502 0.3101 0.0327 0.1873 0.1165 0.3119 0.29 0.02 0.2 0.15 0.2594 0.33 0 D 0.0 B 0.0 B . . 1.000 P . . -5.03 D -0.937 T 0.000 T 0.101 -0.532 1.58 -1.47 -0.659 -0.078 3.921 -0.531799 NA 0 0.328729 0.142694 NA 0.297 NA 7.2684377 925 1 120057002 120057002 T C exonic HSD3B1 NA nonsynonymous SNV HSD3B1:NM_000862:exon4:c.T856C:p.F286L exonic ENSG00000203857 NA nonsynonymous SNV ENSG00000203857:ENST00000528909:exon3:c.T856C:p.F286L,ENSG00000203857:ENST00000235547:exon4:c.T862C:p.F288L,ENSG00000203857:ENST00000369413:exon4:c.T856C:p.F286L NA NA 1p12 NA NA NA NA rs6205 0.13 0.13 0.119 0.157748 0.007 0.0595 0.0793 0.4546 0.0685 0.0013 0.05 0.07 0.45 0.0543 0.45 1 T 0.0 B 0.001 B 0.864 N 1.000 P -2.84 N 0.31 T -0.986 T 0.007 T 0.028 -2.776 0 -0.227 -0.080 -0.805 3.953 -2.776107 NA 1 0.003837 0.381525 NA 0.116 NA 7.2681964 925 20 60943762 60943762 G A intergenic LAMA5,RPS21 dist=1394;dist=18359 NA NA intergenic ENSG00000130702,ENSG00000171858 dist=1394;dist=18410 NA NA Score=265;Name=lod=16 NA 20q13.33 Score=920;Name=V$SP1_Q6 Name=ZBTB7A_(SC-34508),HEY1,TBP,HNF4A_(H-171),FOSL2,Sin3Ak-20,HDAC2_(SC-6296),Egr-1,HNF4G_(SC-6558),CHD2_(N-1250),p300,Pol2,TCF4,HNF4A Name=39 NA rs75024142 0.05 0.05 0.043 0.0754792 0.0656 0.0089 0.0533 0.0658 0.183 0.07 0.0035 0.06 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152921 NA NA NA NA NA 0.116 NA 7.2677334 925 10 105927460 105927460 C T exonic WDR96 NA synonymous SNV WDR96:NM_025145:exon22:c.G2727A:p.P909P exonic ENSG00000197748 NA synonymous SNV ENSG00000197748:ENST00000278064:exon22:c.G2520A:p.P840P,ENSG00000197748:ENST00000357060:exon22:c.G2727A:p.P909P,ENSG00000197748:ENST00000428666:exon22:c.G2730A:p.P910P Score=472;Name=lod=111 NA 10q25.1 NA NA NA NA rs17750886 0.08 0.08 0.083 0.0700879 0.164 0.001 0.085 0.0325 0.0849 0.17 0.0017 0.1 0.03 0.1048 0.17 . . . . . . . . 0.000 P . . . . -1.025 T 0.000 T . 0.201 5.085 -1.34 -0.417 -0.595 6.066 0.201277 NA NA 0.130233 0.046074 NA 0.022 NA 7.2676336 925 16 1877698 1877698 C G exonic FAHD1 NA synonymous SNV FAHD1:NM_001018104:exon1:c.C468G:p.L156L,FAHD1:NM_001142398:exon1:c.C468G:p.L156L,FAHD1:NM_031208:exon1:c.C468G:p.L156L exonic ENSG00000180185 NA synonymous SNV ENSG00000180185:ENST00000382666:exon1:c.C468G:p.L156L,ENSG00000180185:ENST00000382668:exon1:c.C468G:p.L156L,ENSG00000180185:ENST00000427358:exon1:c.C468G:p.L156L Score=405;Name=lod=59 NA 16p13.3 NA NA Name=4 NA rs3743852 0.12 0.12 0.111 0.117412 0.1342 0.1042 0.0908 0.1006 0.1554 0.13 0.12 0.11 0.11 0.1294 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355737 NA NA 0.136279 0.10141 ID=COSM1376209;OCCURENCE=1(large_intestine) 0.138 NA 7.2667876 925 17 36704829 36704829 G A exonic SRCIN1 NA synonymous SNV SRCIN1:NM_025248:exon17:c.C3234T:p.D1078D exonic ENSG00000017373 NA synonymous SNV ENSG00000017373:ENST00000264659:exon17:c.C3234T:p.D1078D,ENSG00000017373:ENST00000578925:exon18:c.C3336T:p.D1112D Score=415;Name=lod=65 NA 17q12 Score=815;Name=V$YY1_02 NA NA NA rs56321748 0.11 0.11 0.104 0.108027 0.1402 0.1429 0.062 0.0477 0.1534 0.14 0.15 0.08 0.05 0.1284 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.332714 1.332714 NA 0.131473 0.055133 NA 0.065 NA 7.2665936 926 1 228505668 228505668 C G exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon53:c.C13925G:p.S4642C,ENSG00000154358:ENST00000366709:exon53:c.C5282G:p.S1761C,ENSG00000154358:ENST00000422127:exon53:c.C13925G:p.S4642C,ENSG00000154358:ENST00000366707:exon59:c.C6827G:p.S2276C,ENSG00000154358:ENST00000570156:exon64:c.C16796G:p.S5599C NA NA 1q42.13 NA NA NA NA rs1188729 0.73 0.73 0.707 0.699281 0.674 0.748 0.7147 0.8661 0.4387 0.67 0.74 0.72 0.84 0.694 0.84 0.11 T 0.0 B 0.0 B 0.205 N 1.000 P 0.165 N -1.09 T -0.986 T 0.000 T 0.11 1.214 9.929 2.58 0.559 2.591 7.934 1.214304 NA 0.04 0.701563 0.832546 NA 0.674 NA 7.2637704 926 19 45179567 45179567 C T exonic CEACAM19 NA nonsynonymous SNV CEACAM19:NM_001127893:exon3:c.C449T:p.T150I,CEACAM19:NM_020219:exon3:c.C449T:p.T150I exonic ENSG00000186567 NA nonsynonymous SNV ENSG00000186567:ENST00000358777:exon3:c.C449T:p.T150I,ENSG00000186567:ENST00000403660:exon3:c.C449T:p.T150I NA NA 19q13.31 NA NA NA NA rs78626419 0.05 0.05 0.044 0.0465256 0.0199 NA 0.0202 0.1256 0.0337 0.02 NA 0.03 0.15 0.0294 0.15 0.2 T 0.004 B 0.003 B . . 1.000 N 0.46 N 4.29 T -0.894 T 0.000 T 0.052 1.763 11.85 -0.264 -0.054 -0.014 3.661 1.762577 1.762577 0.07 0.020349 0.110985 NA 0.014 NA 7.2636844 926 13 50050620 50050620 A G exonic SETDB2 NA nonsynonymous SNV SETDB2:NM_001160308:exon5:c.A314G:p.E105G,SETDB2:NM_031915:exon7:c.A350G:p.E117G exonic ENSG00000136169 NA nonsynonymous SNV ENSG00000136169:ENST00000258672:exon6:c.A314G:p.E105G,ENSG00000136169:ENST00000354234:exon6:c.A314G:p.E105G,ENSG00000136169:ENST00000317257:exon7:c.A350G:p.E117G NA NA 13q14.2 NA NA NA NA rs7998427 0.75 0.75 0.741 0.727236 0.673 0.8046 0.7507 0.7874 0.6053 0.68 0.81 0.75 0.77 0.7096 0.81 0.5 T 0.013 B 0.019 B 0.553 N 1.000 P 1.04 L 1.14 T -0.931 T 0.000 T 0.075 -0.415 2.062 3.52 0.499 3.304 8.591 -0.41517 NA 0.16 0.687369 0.777753 NA 0.652 NA 7.2633644 926 1 154987526 154987526 C T exonic ZBTB7B NA synonymous SNV ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I exonic ENSG00000160685 NA synonymous SNV ENSG00000160685:ENST00000292176:exon1:c.C390T:p.I130I,ENSG00000160685:ENST00000368426:exon3:c.C390T:p.I130I,ENSG00000160685:ENST00000417934:exon4:c.C492T:p.I164I,ENSG00000160685:ENST00000535420:exon4:c.C390T:p.I130I Score=538;Name=lod=205 NA 1q21.3 Score=935;Name=V$NFKAPPAB65_01 NA Name=3 NA rs11264295 0.6 0.6 0.55 0.617812 0.4513 0.9058 0.6671 0.4592 0.6718 0.44 0.92 0.62 0.44 0.5275 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931659 NA NA 0.424535 0.470949 ID=COSM424019;OCCURENCE=1(breast) 0.428 NA 7.2633316 926 11 5602605 5602605 G A exonic OR52B6 NA nonsynonymous SNV OR52B6:NM_001005162:exon1:c.G499A:p.A167T exonic ENSG00000187747 NA nonsynonymous SNV ENSG00000187747:ENST00000345043:exon1:c.G499A:p.A167T NA NA 11p15.4 NA Name=CEBPB NA NA rs2341433 0.54 0.54 0.537 0.565296 0.331 0.7659 0.562 0.6142 0.5358 0.34 0.76 0.53 0.61 0.427 0.76 0.73 T 0.013 B 0.022 B 0.120 N 1.000 P 0.76 N 1.19 T -0.984 T 0.000 T 0.025 -0.118 3.422 1.57 0.101 -0.549 8.494 -0.117846 NA 0.3 0.313547 0.547024 NA 0.384 NA 7.2617864 926 7 123388732 123388732 G A exonic WASL NA synonymous SNV WASL:NM_003941:exon1:c.C57T:p.S19S exonic ENSG00000106299 NA synonymous SNV ENSG00000106299:ENST00000223023:exon1:c.C57T:p.S19S Score=651;Name=lod=592 NA 7q31.32 Score=753;Name=V$HEN1_02 Name=Egr-1 NA NA rs1054706 0.44 0.44 0.435 0.477236 0.4384 0.5565 0.428 0.2973 0.7137 0.43 0.58 0.48 0.28 0.4971 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.51471 1.51471 NA 0.469419 0.33409 NA 0.152 NA 7.2617476 926 5 157065306 157065306 G A exonic SOX30 NA synonymous SNV SOX30:NM_178424:exon4:c.C1812T:p.F604F exonic ENSG00000039600 NA synonymous SNV ENSG00000039600:ENST00000265007:exon4:c.C1812T:p.F604F,ENSG00000039600:ENST00000519442:exon5:c.C897T:p.F299F Score=569;Name=lod=273 NA 5q33.3 Score=949;Name=V$IK2_01 NA NA NA rs35793864 0.1 0.1 0.08 0.096845 0.1362 0.123 0.0778 0.0053 0.1667 0.13 0.13 0.08 0.02 0.1266 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137162 NA NA 0.143721 0.026101 NA 0.072 NA 7.2601456 926 3 187088923 187088923 G A exonic RTP4 NA nonsynonymous SNV RTP4:NM_022147:exon2:c.G503A:p.S168N exonic ENSG00000136514 NA nonsynonymous SNV ENSG00000136514:ENST00000259030:exon2:c.G503A:p.S168N NA NA 3q27.3 NA NA NA NA rs35224605 0.01 0.01 0.008 0.0113818 0.0209 NA 0.0274 0.0023 0.0143 0.02 NA 0.03 0.0041 0.0234 0.03 0.56 T 0.008 B 0.001 B 0.000 N 1.000 N -0.55 N 2.23 T -1.020 T 0.006 T 0.006 -0.595 1.338 -0.231 -0.045 -0.848 2.700 -0.594773 NA 0.72 0.029186 0.005447 NA 0.014 NA 7.2598474 926 6 131995313 131995313 A G exonic ENPP3 NA synonymous SNV ENPP3:NM_005021:exon8:c.A654G:p.P218P exonic ENSG00000154269 NA synonymous SNV ENSG00000154269:ENST00000357639:exon8:c.A654G:p.P218P,ENSG00000154269:ENST00000358229:exon8:c.A654G:p.P218P,ENSG00000154269:ENST00000414305:exon9:c.A654G:p.P218P,ENSG00000154269:ENST00000427148:exon9:c.A552G:p.P184P,ENSG00000154269:ENST00000543135:exon9:c.A552G:p.P184P Score=561;Name=lod=253 NA 6q23.2 Score=774;Name=V$HTF_01 NA NA NA rs9493048 0.28 0.28 0.299 0.307308 0.1024 0.3254 0.2349 0.5401 0.2362 0.09 0.36 0.19 0.56 0.1966 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221594 NA NA 0.109419 0.455969 NA 0.399 NA 7.2582476 926 4 47593283 47593283 G C exonic ATP10D NA nonsynonymous SNV ATP10D:NM_020453:exon23:c.G4166C:p.S1389T exonic ENSG00000145246 NA nonsynonymous SNV ENSG00000145246:ENST00000273859:exon23:c.G4166C:p.S1389T NA NA 4p12 NA NA NA NA rs4145944 0.41 0.41 0.398 0.376997 0.3638 0.123 0.4006 0.6899 0.2127 0.38 0.15 0.44 0.72 0.3618 0.72 0.67 T 0.0 B 0.0 B 0.266 N 1.000 P -1.01 N 1.18 T -0.958 T 0.000 T 0.065 -0.935 0.369 3.59 0.480 0.929 6.374 -0.935039 NA 1 0.349884 0.614616 NA 0.478 NA 7.2578494 926 3 52864635 52864635 A G exonic ITIH4 NA synonymous SNV ITIH4:NM_001166449:exon1:c.T24C:p.R8R,ITIH4:NM_002218:exon1:c.T24C:p.R8R exonic ENSG00000055955 NA synonymous SNV ENSG00000055955:ENST00000266041:exon1:c.T24C:p.R8R,ENSG00000055955:ENST00000346281:exon1:c.T24C:p.R8R,ENSG00000055955:ENST00000406595:exon1:c.T24C:p.R8R,ENSG00000055955:ENST00000485816:exon1:c.T24C:p.R8R NA NA 3p21.1 NA Name=Pol2 Name=16 NA rs2276818 0.11 0.11 0.093 0.0834665 0.1441 0.0417 0.1297 0.0613 0.0613 0.15 0.04 0.17 0.07 0.1171 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119398 NA NA 0.147791 0.077848 NA 0.145 NA 7.2576756 926 5 132159134 132159134 C T exonic SHROOM1 NA synonymous SNV SHROOM1:NM_133456:exon6:c.G2034A:p.A678A,SHROOM1:NM_001172700:exon9:c.G2034A:p.A678A exonic ENSG00000164403 NA synonymous SNV ENSG00000164403:ENST00000378676:exon5:c.G1827A:p.A609A,ENSG00000164403:ENST00000319854:exon6:c.G2034A:p.A678A,ENSG00000164403:ENST00000378679:exon9:c.G2034A:p.A678A NA NA 5q31.1 NA Name=YY1_(C-20),Max Name=51 NA rs4705870 0.1 0.1 0.072 0.111222 0.1262 0.1171 0.085 0.053 0.1871 0.13 0.12 0.09 0.06 0.1431 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050328 NA NA 0.140873 0.05814 NA 0.145 NA 7.2564936 926 14 74759006 74759006 C T exonic ABCD4 NA nonsynonymous SNV ABCD4:NM_005050:exon11:c.G1102A:p.E368K exonic ENSG00000119688 NA nonsynonymous SNV ENSG00000119688:ENST00000298816:exon9:c.G790A:p.E264K,ENSG00000119688:ENST00000356924:exon11:c.G1102A:p.E368K NA NA 14q24.3 NA NA NA NA rs3742801 0.27 0.27 0.275 0.270367 0.3857 0.247 0.2723 0.1475 0.3405 0.37 0.24 0.29 0.13 0.3276 0.37 0.77 T 0.011 B 0.006 B 0.116 N 1.000 P 0 N -3.14 D -1.079 T 0.000 T 0.423 2.211 13.35 1.48 0.337 0.007 5.287 2.210747 2.210747 0.28 0.363721 0.197004 NA 0.275 NA 7.2563124 927 9 123850770 123850770 G A exonic CNTRL NA nonsynonymous SNV CNTRL:NM_007018:exon1:c.G166A:p.V56I exonic ENSG00000119397 NA nonsynonymous SNV ENSG00000119397:ENST00000238341:exon1:c.G166A:p.V56I,ENSG00000119397:ENST00000373865:exon2:c.G166A:p.V56I,ENSG00000119397:ENST00000373855:exon3:c.G166A:p.V56I NA NA 9q33.2 NA NA NA NA rs10818503 0.64 0.64 0.595 0.639577 0.6958 0.7788 0.7421 0.2557 0.8845 0.7 0.8 0.75 0.27 0.6933 0.8 0.21 T 0.001 B 0.001 B . . 1.000 P 1.03 L 1.8 T -1.016 T 0.000 T 0.048 1.676 11.56 2.62 1.360 0.766 4.302 1.676337 1.676337 0.19 0.689535 0.335679 NA 0.551 NA 7.2546984 927 3 108639384 108639384 T C exonic GUCA1C NA nonsynonymous SNV GUCA1C:NM_005459:exon2:c.A253G:p.M85V exonic ENSG00000138472 NA nonsynonymous SNV ENSG00000138472:ENST00000261047:exon2:c.A253G:p.M85V,ENSG00000138472:ENST00000393963:exon2:c.A253G:p.M85V,ENSG00000138472:ENST00000471108:exon2:c.A253G:p.M85V NA NA 3q13.13 NA NA NA NA rs6804162 0.34 0.34 0.347 0.337061 0.3807 0.25 0.2522 0.438 0.3057 0.4 0.25 0.26 0.42 0.3422 0.42 0.91 T 0.0 B 0.0 B 0.001 N 1.000 P 0.115 N 1.03 T -0.931 T 0.000 T 0.011 0.378 6.052 3.1 0.598 -0.034 2.791 0.377909 NA 0.18 0.356212 0.41852 NA 0.304 NA 7.2542214 927 16 1812972 1812972 G C exonic MAPK8IP3 NA synonymous SNV MAPK8IP3:NM_001040439:exon15:c.G1842C:p.S614S,MAPK8IP3:NM_015133:exon16:c.G1860C:p.S620S exonic ENSG00000138834 NA synonymous SNV ENSG00000138834:ENST00000356010:exon15:c.G1842C:p.S614S,ENSG00000138834:ENST00000250894:exon16:c.G1860C:p.S620S Score=562;Name=lod=257 NA 16p13.3 NA NA Name=5 NA rs2294616 0.19 0.19 0.145 0.150559 0.1441 0.2698 0.0965 0.0371 0.226 0.18 0.33 0.14 0.09 0.1425 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181298 NA NA 0.126441 0.0439 NA 0.101 NA 7.2536256 927 19 48229169 48229169 A G exonic EHD2 NA synonymous SNV EHD2:NM_014601:exon4:c.A603G:p.S201S exonic ENSG00000024422 NA synonymous SNV ENSG00000024422:ENST00000538399:exon3:c.A195G:p.S65S,ENSG00000024422:ENST00000263277:exon4:c.A603G:p.S201S NA NA 19q13.33 Score=771;Name=V$PAX5_01 Name=Pol2 NA NA rs8111184 0.1 0.1 0.101 0.110024 0.1402 0.0139 0.0836 0.1899 0.089 0.14 0.01 0.08 0.17 0.128 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972632 NA NA 0.145349 0.198139 NA 0.174 NA 7.2531176 927 22 19969106 19969106 A G exonic ARVCF NA nonsynonymous SNV ARVCF:NM_001670:exon5:c.T524C:p.V175A exonic ENSG00000099889 NA nonsynonymous SNV ENSG00000099889:ENST00000344269:exon3:c.T335C:p.V112A,ENSG00000099889:ENST00000401994:exon3:c.T335C:p.V112A,ENSG00000099889:ENST00000406259:exon3:c.T524C:p.V175A,ENSG00000099889:ENST00000406522:exon3:c.T335C:p.V112A,ENSG00000099889:ENST00000263207:exon5:c.T524C:p.V175A NA NA 22q11.21 NA NA NA NA rs2240717 0.38 0.38 0.337 0.419529 0.3459 0.2302 0.366 0.5983 0.4867 0.35 0.23 0.36 0.58 0.3941 0.58 . . 0.0 B 0.0 B 0.631 N 1.000 P -0.69 N 1.63 T -0.925 T 0.000 T 0.011 -0.415 2.063 0.002 -0.211 1.447 8.989 -0.414989 NA 0.35 0.340216 0.53305 NA 0.406 NA 7.2531174 927 12 10562089 10562089 A C exonic KLRC4 NA nonsynonymous SNV KLRC4:NM_013431:exon1:c.T86G:p.I29S exonic ENSG00000183542,ENSG00000255819 NA nonsynonymous SNV ENSG00000183542:ENST00000309384:exon1:c.T86G:p.I29S NA NA 12p13.2 NA Name=STAT1 Name=58 NA rs1841958 0.73 0.73 0.712 0.737021 0.6789 0.7431 0.8012 0.6558 0.8548 0.68 0.79 0.77 0.72 0.7188 0.79 1 T 0.0 B 0.0 B 0.598 N 1.000 P -2.71 N 3.62 T -0.964 T 0.000 T 0.26 -1.952 0.007 -1.6 -0.540 -0.559 0.157 -1.951907 NA 1 0.683721 0.651384 NA 0.717 NA 7.2519124 927 11 89531780 89531780 G C exonic TRIM49 NA nonsynonymous SNV TRIM49:NM_020358:exon8:c.C877G:p.H293D exonic ENSG00000168930 NA nonsynonymous SNV ENSG00000168930:ENST00000532501:exon6:c.C646G:p.H216D,ENSG00000168930:ENST00000329758:exon8:c.C877G:p.H293D NA NA 11q14.3 NA NA NA NA rs71240006 0.14 0.14 0.069 NA NA NA NA NA NA 0.1 0.17 0.24 0.12 0.0815 0.24 . . 0.01 B 0.009 B . . 1.000 P 1.245 L 0.17 T -1.050 T 0.000 T 0.291 -0.682 1.031 0.539 0.568 -1.486 . -0.681762 NA 0.2 NA NA NA NA NA 7.2518334 927 6 37450914 37450914 T C UTR3 CCDC167 NM_138493:c.*48A>G NA NA UTR3 ENSG00000198937 ENST00000373408:c.*48A>G NA NA NA NA 6p21.2 NA NA NA NA rs10692 0.68 0.68 0.723 0.670927 0.7018 0.4563 0.683 0.8699 0.5828 0.69 0.47 0.71 0.89 0.6867 0.89 0.02 D . . . . 0.486 N 1.000 P . . . . -0.987 T 0.046 T 0.078 -1.541 0.015 -2.21 -1.609 -1.492 6.726 -1.541284 NA 0 0.69314 0.832728 NA 0.739 NA 7.2516934 927 11 123600475 123600475 A G exonic ZNF202 NA nonsynonymous SNV ZNF202:NM_003455:exon5:c.T461C:p.V154A exonic ENSG00000166261 NA nonsynonymous SNV ENSG00000166261:ENST00000529691:exon3:c.T461C:p.V154A,ENSG00000166261:ENST00000336139:exon4:c.T461C:p.V154A,ENSG00000166261:ENST00000530393:exon5:c.T461C:p.V154A NA NA 11q24.1 NA NA Name=16 NA rs1144507 0.66 0.66 0.667 0.665335 0.7038 0.4812 0.6744 0.767 0.6718 0.69 0.51 0.73 0.75 0.6885 0.76 0.82 T 0.0 B 0.0 B 0.803 N 1.000 P -0.695 N 3.48 T -1.034 T 0.000 T 0.024 -0.706 0.954 2.24 0.242 0.449 3.444 -0.705563 NA 0.88 0.692254 0.760445 NA 0.565 NA 7.2487794 927 12 2721137 2721137 C T exonic CACNA1C NA synonymous SNV CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F exonic ENSG00000151067 NA synonymous SNV ENSG00000151067:ENST00000327702:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000344100:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399591:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399595:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399597:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399601:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399603:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399617:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399621:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399629:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399634:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399637:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399638:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399641:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399644:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399649:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000399655:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000402845:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000406454:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000480911:exon29:c.C3786T:p.F1262F,ENSG00000151067:ENST00000335762:exon30:c.C3861T:p.F1287F,ENSG00000151067:ENST00000347598:exon30:c.C3846T:p.F1282F,ENSG00000151067:ENST00000399606:exon30:c.C3846T:p.F1282F Score=466;Name=lod=104 NA 12p13.33 NA NA NA NA rs216008 0.26 0.26 NA 0.259185 0.2087 0.3512 0.2262 0.2413 0.2638 0.21 0.38 0.2 0.26 0.2095 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.32728 1.32728 NA NA NA NA 0.319 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079289.1|RCV000124080.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.2484666 927 2 121746956 121746956 G T exonic GLI2 NA nonsynonymous SNV GLI2:NM_005270:exon13:c.G3466T:p.A1156S exonic ENSG00000074047 NA nonsynonymous SNV ENSG00000074047:ENST00000361492:exon13:c.G3466T:p.A1156S,ENSG00000074047:ENST00000452319:exon14:c.G3466T:p.A1156S NA NA 2q14.2 Score=788;Name=V$PAX5_01 NA NA NA rs3738880 0.56 0.56 0.569 0.508986 0.7247 0.4722 0.5836 0.3578 0.4765 0.72 0.5 0.59 0.37 0.6296 0.73 . . 0.242 B 0.058 B 0.609 N 1.000 P 1.23 L 2.53 T -1.041 T 0.000 T 0.025 -0.412 2.076 0.039 -0.176 -0.368 6.810 -0.411771 NA 0.41 0.730652 0.413453 NA 0.609 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081284.1;CLNDSDB=.;CLNDSDBID=. 7.2483814 927 19 19049194 19049194 G A exonic HOMER3 NA synonymous SNV HOMER3:NM_001145724:exon3:c.C271T:p.L91L,HOMER3:NM_001145721:exon4:c.C271T:p.L91L,HOMER3:NM_001145722:exon4:c.C271T:p.L91L,HOMER3:NM_004838:exon4:c.C271T:p.L91L exonic ENSG00000051128 NA synonymous SNV ENSG00000051128:ENST00000221222:exon3:c.C271T:p.L91L,ENSG00000051128:ENST00000539827:exon3:c.C271T:p.L91L,ENSG00000051128:ENST00000594439:exon3:c.C271T:p.L91L,ENSG00000051128:ENST00000355887:exon4:c.C271T:p.L91L,ENSG00000051128:ENST00000392351:exon4:c.C271T:p.L91L,ENSG00000051128:ENST00000433218:exon4:c.C271T:p.L91L,ENSG00000051128:ENST00000542541:exon4:c.C271T:p.L91L,ENSG00000051128:ENST00000596482:exon4:c.C271T:p.L91L,ENSG00000051128:ENST00000600077:exon5:c.C271T:p.L91L Score=383;Name=lod=48 NA 19p13.11 Score=786;Name=V$PPARG_03 NA NA NA rs11540741 0.08 0.08 0.053 0.0660942 0.1451 0.0565 0.0951 0.0091 0.0511 0.14 0.04 0.12 0.01 0.1204 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381201 NA NA 0.15407 0.029959 NA 0.072 NA 7.2470966 927 3 156266774 156266774 C T exonic SSR3 NA synonymous SNV SSR3:NM_007107:exon3:c.G279A:p.E93E exonic ENSG00000114850 NA synonymous SNV ENSG00000114850:ENST00000265044:exon3:c.G279A:p.E93E,ENSG00000114850:ENST00000463503:exon3:c.G123A:p.E41E,ENSG00000114850:ENST00000467789:exon3:c.G279A:p.E93E,ENSG00000114850:ENST00000476217:exon3:c.G279A:p.E93E,ENSG00000114850:ENST00000496050:exon3:c.G123A:p.E41E Score=665;Name=lod=675 NA 3q25.31 NA NA Name=14 NA rs9296 0.17 0.17 0.175 0.175319 0.1481 0.2312 0.1542 0.1543 0.1892 0.15 0.19 0.12 0.2 0.1486 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047025 NA NA 0.124186 0.136405 NA 0.094 NA 7.2457806 927 11 89531540 89531540 C T exonic TRIM49 NA nonsynonymous SNV TRIM49:NM_020358:exon8:c.G1117A:p.G373R exonic ENSG00000168930 NA nonsynonymous SNV ENSG00000168930:ENST00000532501:exon6:c.G886A:p.G296R,ENSG00000168930:ENST00000329758:exon8:c.G1117A:p.G373R NA NA 11q14.3 NA NA NA NA rs12417980 0.29 0.29 0.261 0.273962 0.3827 0.3958 0.33 0.087 0.2495 0.34 0.39 0.28 0.09 0.3236 0.39 . . 0.834 P 0.703 P . . 1.000 P 0.465 N -0.29 T -1.045 T 0.000 T 0.058 0.934 8.805 -1.8 -0.534 -0.015 1.806 0.933832 NA 0.01 0.381894 0.162769 ID=COSM147302;OCCURENCE=1(stomach) 0.254 NA 7.2451394 928 2 206911228 206911228 G A exonic INO80D NA nonsynonymous SNV INO80D:NM_017759:exon5:c.C1073T:p.A358V exonic ENSG00000114933 NA nonsynonymous SNV ENSG00000114933:ENST00000424117:exon4:c.C758T:p.A253V,ENSG00000114933:ENST00000403263:exon5:c.C1073T:p.A358V Score=537;Name=lod=203 NA 2q33.3 NA NA NA NA rs2909111 0.37 0.37 0.387 0.390375 0.3439 0.4792 0.3242 0.236 0.6022 0.34 0.51 0.34 0.28 0.3865 0.51 . . 0.001 B 0.0 B 0.187 N 0.998 P 0 N 0.97 T -0.916 T 0.000 T 0.034 2.316 13.7 -1.7 -0.190 -0.045 4.983 2.316205 2.316205 0.13 0.358852 0.23114 NA 0.5 NA 7.2440814 928 12 29648275 29648275 G A exonic OVCH1 NA nonsynonymous SNV OVCH1:NM_183378:exon4:c.C397T:p.R133C exonic ENSG00000187950 NA nonsynonymous SNV ENSG00000187950:ENST00000318184:exon4:c.C397T:p.R133C NA NA 12p11.22 NA NA NA NA rs10843438 0.47 0.47 0.477 0.447484 0.5716 0.5347 0.3689 0.3185 0.4601 0.56 0.53 0.35 0.33 0.4826 0.56 0.18 T 0.855 P 0.285 B . . 1.000 P 1.32 L -2.49 D -0.972 T 0.000 T 0.148 -0.569 1.438 0.63 0.151 -0.544 5.503 -0.568535 NA 0.06 0.535137 0.31791 NA 0.486 NA 7.2439964 928 9 95872885 95872885 C T exonic C9orf89 NA synonymous SNV C9orf89:NM_032310:exon3:c.C186T:p.L62L exonic ENSG00000165233 NA synonymous SNV ENSG00000165233:ENST00000375464:exon3:c.C186T:p.L62L,ENSG00000165233:ENST00000466409:exon3:c.C186T:p.L62L Score=446;Name=lod=87 NA 9q22.31 Score=901;Name=V$ZID_01 NA NA NA rs17593496 0.08 0.08 0.076 0.0595048 0.161 0.002 0.062 0.0356 0.045 0.16 NA 0.07 0.04 0.1145 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290499 1.290499 NA 0.147326 0.046981 ID=COSM1180463;OCCURENCE=1(prostate) 0.051 NA 7.2438406 928 8 69434195 69434195 T C exonic C8orf34 NA synonymous SNV C8orf34:NM_001195639:exon6:c.T927C:p.S309S,C8orf34:NM_052958:exon6:c.T927C:p.S309S exonic ENSG00000165084 NA synonymous SNV ENSG00000165084:ENST00000337103:exon5:c.T594C:p.S198S,ENSG00000165084:ENST00000521406:exon5:c.T594C:p.S198S,ENSG00000165084:ENST00000348340:exon6:c.T669C:p.S223S,ENSG00000165084:ENST00000518698:exon6:c.T927C:p.S309S,ENSG00000165084:ENST00000539993:exon6:c.T669C:p.S223S Score=459;Name=lod=98 NA 8q13.2 Score=797;Name=V$OLF1_01 NA NA NA rs2289831 0.19 0.19 0.201 0.207268 0.1392 0.1121 0.1455 0.4077 0.1483 0.15 0.11 0.14 0.38 0.1476 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324447 1.324447 NA 0.136163 0.36246 NA 0.232 NA 7.2437036 928 20 2633936 2633936 T C exonic NOP56 NA synonymous SNV NOP56:NM_006392:exon3:c.T105C:p.S35S exonic ENSG00000101361 NA synonymous SNV ENSG00000101361:ENST00000329276:exon3:c.T105C:p.S35S,ENSG00000101361:ENST00000445139:exon3:c.T105C:p.S35S Score=559;Name=lod=250 NA 20p13 NA Name=Pol2(b),Pol2-4H8,HEY1,Pol2 Name=14 NA rs2073194 0.85 0.85 0.86 0.861222 0.8002 0.8462 0.8934 0.9228 0.8333 0.8 0.85 0.87 0.91 0.8285 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.975079 1.975079 NA 0.795 0.91103 NA 0.848 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117823.2;CLNDSDB=.;CLNDSDBID=. 7.2429666 928 12 6707526 6707526 G A exonic CHD4 NA synonymous SNV CHD4:NM_001273:exon11:c.C1548T:p.P516P exonic ENSG00000111642 NA synonymous SNV ENSG00000111642:ENST00000309577:exon11:c.C1548T:p.P516P,ENSG00000111642:ENST00000357008:exon11:c.C1548T:p.P516P,ENSG00000111642:ENST00000544040:exon11:c.C1527T:p.P509P,ENSG00000111642:ENST00000544484:exon11:c.C1539T:p.P513P Score=504;Name=lod=149 NA 12p13.31 Score=873;Name=V$AREB6_03 NA NA NA rs11539543 0.09 0.09 0.077 0.0974441 0.1322 0.004 0.0634 0.1263 0.1431 0.13 0.0017 0.08 0.14 0.1294 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.044493 NA NA 0.162326 0.129596 NA 0.116 NA 7.2427406 928 18 33725931 33725931 G A exonic ELP2 NA nonsynonymous SNV ELP2:NM_001242879:exon7:c.G703A:p.V235M,ELP2:NM_001242877:exon9:c.G835A:p.V279M,ELP2:NM_001242878:exon9:c.G835A:p.V279M,ELP2:NM_001242876:exon10:c.G1030A:p.V344M,ELP2:NM_018255:exon10:c.G913A:p.V305M,ELP2:NM_001242875:exon11:c.G1108A:p.V370M exonic ENSG00000134759 NA nonsynonymous SNV ENSG00000134759:ENST00000423854:exon7:c.G703A:p.V235M,ENSG00000134759:ENST00000351393:exon9:c.G835A:p.V279M,ENSG00000134759:ENST00000542824:exon9:c.G835A:p.V279M,ENSG00000134759:ENST00000350494:exon10:c.G1030A:p.V344M,ENSG00000134759:ENST00000358232:exon10:c.G913A:p.V305M,ENSG00000134759:ENST00000539560:exon10:c.G913A:p.V305M,ENSG00000134759:ENST00000442325:exon11:c.G1108A:p.V370M Score=630;Name=lod=486 NA 18q12.2 NA NA NA NA rs1785928 0.35 0.35 0.336 0.321685 0.3797 0.2014 0.3847 0.3865 0.2536 0.4 0.19 0.43 0.39 0.3427 0.43 0.14 T 0.0 B 0.004 B 0.000 N 1.000 P -0.625 N 0.24 T -0.918 T 0.000 T 0.146 -0.141 3.309 -1.7 -0.180 0.248 7.043 -0.141116 NA 0.06 0.371163 0.369042 ID=COSM1388588;OCCURENCE=1(large_intestine) 0.326 NA 7.2397704 928 1 32842319 32842319 T C exonic BSDC1 NA nonsynonymous SNV BSDC1:NM_001143890:exon7:c.A415G:p.I139V,BSDC1:NM_001143889:exon8:c.A532G:p.I178V,BSDC1:NM_001143888:exon9:c.A751G:p.I251V,BSDC1:NM_018045:exon9:c.A700G:p.I234V exonic ENSG00000160058 NA nonsynonymous SNV ENSG00000160058:ENST00000526031:exon7:c.A415G:p.I139V,ENSG00000160058:ENST00000413080:exon8:c.A517G:p.I173V,ENSG00000160058:ENST00000419121:exon8:c.A532G:p.I178V,ENSG00000160058:ENST00000527163:exon8:c.A502G:p.I168V,ENSG00000160058:ENST00000341071:exon9:c.A751G:p.I251V,ENSG00000160058:ENST00000444377:exon9:c.A700G:p.I234V,ENSG00000160058:ENST00000446293:exon9:c.A751G:p.I251V,ENSG00000160058:ENST00000449308:exon9:c.A700G:p.I234V,ENSG00000160058:ENST00000455895:exon9:c.A700G:p.I234V NA NA 1p35.1 NA NA NA NA rs34885668 0.01 0.01 0.012 0.00838658 0.0328 NA 0.0058 0.0008 0.0041 0.04 NA 0.01 0.002 0.0243 0.04 0.33 T 0.007 B 0.02 B 0.251 N 1.000 N 0 N 1.0 T -1.050 T 0.012 T 0.078 0.342 5.857 0.721 0.011 -0.093 4.765 0.342357 NA 0.24 0.037503 0.006627 NA 0.007 NA 7.2387304 928 3 13670536 13670536 A G exonic FBLN2 NA nonsynonymous SNV FBLN2:NM_001998:exon11:c.A2560G:p.T854A,FBLN2:NM_001004019:exon12:c.A2701G:p.T901A,FBLN2:NM_001165035:exon12:c.A2701G:p.T901A exonic ENSG00000163520 NA nonsynonymous SNV ENSG00000163520:ENST00000295760:exon11:c.A2560G:p.T854A,ENSG00000163520:ENST00000535798:exon11:c.A2638G:p.T880A,ENSG00000163520:ENST00000404922:exon12:c.A2701G:p.T901A,ENSG00000163520:ENST00000492059:exon12:c.A2701G:p.T901A NA NA 3p25.1 NA NA NA NA rs9843344 0.81 0.81 0.778 0.805312 0.6938 0.9931 0.8314 0.7595 0.7699 0.69 0.99 0.82 0.77 0.7364 0.99 0.5 T 0.003 B 0.011 B 0.153 N 1.000 P 1.46 L -2.24 D -0.983 T 0.000 T 0.051 -0.261 2.748 -4.23 -0.772 0.056 5.462 -0.2607 NA 0.12 0.666236 0.753832 NA 0.833 NA 7.2368974 928 4 2175733 2175733 A G exonic POLN NA synonymous SNV POLN:NM_181808:exon9:c.T1323C:p.H441H exonic ENSG00000130997 NA synonymous SNV ENSG00000130997:ENST00000382865:exon9:c.T1323C:p.H441H,ENSG00000130997:ENST00000511885:exon11:c.T1323C:p.H441H NA NA 4p16.3 NA NA NA NA rs2022302 0.31 0.31 0.31 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 0.1898 0.57 . . . . . . . . 1.000 P . . . . -0.919 T 0.000 T . -1.809 0.009 -0.849 -0.617 -1.618 9.208 -1.809418 NA NA 0.115698 0.504085 NA 0.384 NA 7.2368686 928 7 129950740 129950740 G T exonic CPA4 NA nonsynonymous SNV CPA4:NM_001163446:exon8:c.G808T:p.G270C,CPA4:NM_016352:exon9:c.G907T:p.G303C exonic ENSG00000128510 NA nonsynonymous SNV ENSG00000128510:ENST00000493259:exon7:c.G595T:p.G199C,ENSG00000128510:ENST00000445470:exon8:c.G808T:p.G270C,ENSG00000128510:ENST00000222482:exon9:c.G907T:p.G303C Score=538;Name=lod=205 NA 7q32.2 NA NA NA NA rs2171492 0.33 0.33 0.304 0.316693 0.3638 0.374 0.3156 0.2065 0.3589 0.35 0.4 0.34 0.22 0.3478 0.4 0.08 T 0.012 B 0.095 B 0.023 N 1.000 P 0.375 N 2.81 T -0.898 T 0.000 T 0.12 2.032 12.75 0.479 -0.068 0.552 11.794 2.032247 2.032247 0.12 0.384884 0.227644 NA 0.355 NA 7.2368494 928 6 36293083 36293083 G A exonic C6orf222 NA nonsynonymous SNV C6orf222:NM_001010903:exon6:c.C1145T:p.P382L exonic ENSG00000189325 NA nonsynonymous SNV ENSG00000189325:ENST00000437635:exon6:c.C1145T:p.P382L NA NA 6p21.31 NA NA NA NA rs76331220 0.02 0.02 0.021 0.0153754 0.0358 0.001 0.0303 0.0038 0.0143 0.04 0.0017 0.03 0.0041 0.0248 0.04 0.44 T 0.001 B 0.001 B 0.245 N 1.000 N -0.55 N 0.95 T -1.038 T 0.015 T 0.023 1.074 9.385 -0.702 -0.111 0.163 7.782 1.074066 NA NA 0.037326 0.008625 NA 0.014 NA 7.2354074 928 16 25239805 25239805 G C exonic AQP8 NA nonsynonymous SNV AQP8:NM_001169:exon6:c.G778C:p.A260P exonic ENSG00000103375 NA nonsynonymous SNV ENSG00000103375:ENST00000219660:exon6:c.G778C:p.A260P,ENSG00000103375:ENST00000566125:exon6:c.G760C:p.A254P NA NA 16p12.1 NA NA NA NA rs2287798 0.41 0.41 0.393 0.414137 0.3459 0.5298 0.4308 0.4077 0.362 0.35 0.51 0.4 0.41 0.3813 0.51 0.16 T 0.165 B 0.043 B 0.024 N 1.000 P 0 N -2.74 D -1.024 T 0.000 T 0.056 1.167 9.751 -1.46 -0.007 0.297 8.671 1.167366 NA 0.2 0.371047 0.414656 ID=COSM148055,COSM148054;OCCURENCE=1(stomach) 0.399 NA 7.2350864 929 6 36930814 36930814 T C exonic PI16 NA synonymous SNV PI16:NM_153370:exon5:c.T696C:p.T232T,PI16:NM_001199159:exon6:c.T696C:p.T232T exonic ENSG00000164530 NA synonymous SNV ENSG00000164530:ENST00000373674:exon5:c.T696C:p.T232T NA NA 6p21.2 NA Name=GABP,ERalpha_a,PU.1,SRF,Max Name=86 NA rs41272198 0.08 0.08 0.073 0.0692891 0.168 0.005 0.1066 0.0174 0.0777 0.16 0.01 0.1 0.01 0.1155 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223518 NA NA 0.148256 0.045166 NA 0.116 NA 7.2349106 929 12 32908518 32908518 G A exonic YARS2 NA synonymous SNV YARS2:NM_001040436:exon1:c.C291T:p.G97G exonic ENSG00000139131 NA synonymous SNV ENSG00000139131:ENST00000324868:exon1:c.C291T:p.G97G,ENSG00000139131:ENST00000548490:exon1:c.C213T:p.G71G Score=550;Name=lod=230 NA 12p11.21 NA Name=TAF1,Pol2,HA-E2F1 NA NA rs11539444 0.13 0.13 0.126 0.126997 0.162 0.0833 0.0937 0.177 0.092 0.16 0.07 0.09 0.17 0.1264 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.698504 1.698504 NA 0.145233 0.164321 NA 0.08 NA 7.2330336 929 16 737269 737269 C T exonic WDR24 NA synonymous SNV WDR24:NM_032259:exon3:c.G807A:p.T269T exonic ENSG00000127580 NA synonymous SNV ENSG00000127580:ENST00000293883:exon3:c.G807A:p.T269T,ENSG00000127580:ENST00000248142:exon7:c.G1197A:p.T399T NA NA 16p13.3 Score=923;Name=V$MYCMAX_01 Name=CTCF NA NA rs17850290 0.06 0.06 0.056 0.0874601 0.1461 0.002 0.0706 0.0053 0.2382 0.14 0.0017 0.09 0.0041 0.1267 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229593 NA NA 0.162517 0.033197 NA 0.13 NA 7.2313496 929 17 61566031 61566031 G A exonic ACE NA synonymous SNV ACE:NM_001178057:exon5:c.G606A:p.T202T,ACE:NM_152830:exon5:c.G606A:p.T202T,ACE:NM_000789:exon16:c.G2328A:p.T776T exonic ENSG00000159640,ENSG00000264813 NA synonymous SNV ENSG00000159640:ENST00000582761:exon2:c.G96A:p.T32T,ENSG00000159640:ENST00000290863:exon5:c.G606A:p.T202T,ENSG00000159640:ENST00000413513:exon5:c.G606A:p.T202T,ENSG00000159640:ENST00000421982:exon5:c.G258A:p.T86T,ENSG00000159640:ENST00000490216:exon5:c.G606A:p.T202T,ENSG00000264813:ENST00000577647:exon5:c.G606A:p.T202T,ENSG00000159640:ENST00000290866:exon16:c.G2328A:p.T776T,ENSG00000159640:ENST00000428043:exon16:c.G2328A:p.T776T NA Name=Angiotensin-converting enzyme activity 17q23.3 Score=879;Name=V$STAT3_01 Name=SRF NA NA rs4343 0.62 0.62 0.601 0.643171 0.4354 0.6796 0.6066 0.8048 0.6268 0.44 0.69 0.6 0.83 0.5373 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190608 NA NA 0.463256 0.749206 NA 0.659 NA 7.2307106 929 19 57085769 57085769 G C exonic ZNF470 NA nonsynonymous SNV ZNF470:NM_001001668:exon4:c.G67C:p.V23L exonic ENSG00000197016 NA nonsynonymous SNV ENSG00000197016:ENST00000391709:exon3:c.G67C:p.V23L,ENSG00000197016:ENST00000330619:exon4:c.G67C:p.V23L,ENSG00000197016:ENST00000601902:exon4:c.G67C:p.V23L NA NA 19q13.43 NA NA NA NA rs10421285 0.4 0.4 0.4 0.423922 0.3698 0.2788 0.3357 0.6657 0.365 0.36 0.26 0.35 0.64 0.368 0.64 0.41 T 0.0 B 0.001 B . . 1.000 P 1.685 L 3.54 T -0.995 T 0.000 T 0.054 0.673 7.6 -3.06 -0.621 0.740 4.406 0.672565 NA 0.12 0.365 0.613936 ID=COSM148776;OCCURENCE=1(stomach) 0.457 NA 7.2305334 929 18 71928150 71928150 C T exonic CYB5A NA synonymous SNV CYB5A:NM_001914:exon3:c.G288A:p.P96P,CYB5A:NM_148923:exon3:c.G288A:p.P96P exonic ENSG00000166347 NA synonymous SNV ENSG00000166347:ENST00000299438:exon3:c.G66A:p.P22P,ENSG00000166347:ENST00000340533:exon3:c.G288A:p.P96P,ENSG00000166347:ENST00000494131:exon3:c.G288A:p.P96P Score=295;Name=lod=21 NA 18q22.3 NA NA Name=2 NA rs7238987 0.14 0.14 0.132 0.141174 0.1332 0.0813 0.2248 0.1596 0.1268 0.14 0.1 0.17 0.16 0.1526 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775948 NA NA 0.150465 0.148207 NA 0.246 NA 7.2304016 929 12 52682141 52682141 G A intronic KRT81 NA NA NA intronic ENSG00000170442,ENSG00000205426 NA NA NA Score=412;Name=lod=63 NA 12q13.13 NA Name=Pol2 Name=19 NA rs12812669 0.18 0.18 0.163 0.1873 0.2644 0.0982 0.183 0.1331 0.2761 0.26 0.09 0.19 0.14 0.2405 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451994 1.451994 NA 0.265349 0.149342 NA 0.167 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056953.1;CLNDSDB=.;CLNDSDBID=. 7.229751 929 8 135602581 135602581 A G exonic ZFAT NA synonymous SNV ZFAT:NM_001174157:exon7:c.T2307C:p.S769S,ZFAT:NM_001167583:exon8:c.T2457C:p.S819S,ZFAT:NM_001174158:exon8:c.T2457C:p.S819S,ZFAT:NM_020863:exon8:c.T2493C:p.S831S,ZFAT:NM_001029939:exon9:c.T2457C:p.S819S exonic ENSG00000066827 NA synonymous SNV ENSG00000066827:ENST00000523399:exon7:c.T2307C:p.S769S,ENSG00000066827:ENST00000377838:exon8:c.T2493C:p.S831S,ENSG00000066827:ENST00000429442:exon8:c.T2457C:p.S819S,ENSG00000066827:ENST00000520214:exon8:c.T2457C:p.S819S,ENSG00000066827:ENST00000520356:exon8:c.T2457C:p.S819S,ENSG00000066827:ENST00000523243:exon8:c.T2493C:p.S831S,ENSG00000066827:ENST00000520727:exon9:c.T2457C:p.S819S Score=599;Name=lod=362 NA 8q24.22 Score=783;Name=V$MEF2_01 NA NA NA rs3739425 0.31 0.31 0.268 NA NA NA NA NA NA 0.2 0.55 0.3 0.2 0.2623 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061133 NA NA 0.175926 0.184378 NA 0.152 NA 7.2284406 929 20 56137807 56137807 A G exonic PCK1 NA synonymous SNV PCK1:NM_002591:exon4:c.A462G:p.S154S exonic ENSG00000124253 NA synonymous SNV ENSG00000124253:ENST00000535860:exon2:c.A66G:p.S22S,ENSG00000124253:ENST00000319441:exon4:c.A462G:p.S154S Score=492;Name=lod=133 NA 20q13.31 Score=791;Name=V$CDPCR3_01 Name=HEY1 NA NA rs1042523 0.32 0.32 0.311 0.313299 0.5229 0.0308 0.3357 0.3222 0.3609 0.53 0.03 0.37 0.31 0.4111 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41894 NA NA 0.504884 0.341807 NA 0.478 NA 7.2277826 929 13 28195972 28195972 C T UTR5 POLR1D NM_152705:c.-149C>T,NM_015972:c.-149C>T NA NA UTR5 ENSG00000186184 ENST00000302979:c.-149C>T NA NA NA NA 13q12.2 Score=805;Name=V$PAX4_01 Name=ELF1_(SC-631),E2F6_(H-50),TAF1,HMGN3,GABP,Pol2(phosphoS2),SP1,Pol2,HEY1,ZEB1_(SC-25388),AP-2gamma,c-Myc,CCNT2,Nrf1,IRF1,TBP,AP-2alpha,Egr-1,Pol2-4H8,HA-E2F1 Name=130 NA rs2232676 0.06 0.06 0.048 0.0808706 0.1074 0.0198 0.0648 0.0855 0.1217 0.11 0.01 0.08 0.04 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695789 NA NA NA NA ID=COSN392800;OCCURENCE=1(lung) NA NA 7.2259334 929 12 110226379 110226379 G A exonic TRPV4 NA synonymous SNV TRPV4:NM_001177433:exon10:c.C1713T:p.I571I,TRPV4:NM_001177428:exon11:c.C1893T:p.I631I,TRPV4:NM_147204:exon11:c.C1854T:p.I618I,TRPV4:NM_001177431:exon13:c.C1932T:p.I644I,TRPV4:NM_021625:exon13:c.C2034T:p.I678I exonic ENSG00000111199 NA synonymous SNV ENSG00000111199:ENST00000544971:exon10:c.C1713T:p.I571I,ENSG00000111199:ENST00000537083:exon11:c.C1854T:p.I618I,ENSG00000111199:ENST00000541794:exon11:c.C1893T:p.I631I,ENSG00000111199:ENST00000346520:exon12:c.C1854T:p.I618I,ENSG00000111199:ENST00000392719:exon12:c.C1893T:p.I631I,ENSG00000111199:ENST00000418703:exon12:c.C2034T:p.I678I,ENSG00000111199:ENST00000261740:exon13:c.C2034T:p.I678I,ENSG00000111199:ENST00000536838:exon13:c.C1932T:p.I644I Score=742;Name=lod=1386 NA 12q24.11 Score=950;Name=V$GATA1_01 NA NA NA rs3742037 0.16 0.16 0.123 0.180312 0.1352 0.1905 0.2738 0.1059 0.2505 0.15 0.15 0.28 0.09 0.1666 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113635 NA NA 0.139535 0.11212 NA 0.196 NA 7.2253316 930 1 75038228 75038228 A C exonic C1orf173 NA nonsynonymous SNV C1orf173:NM_001002912:exon14:c.T3166G:p.L1056V exonic ENSG00000178965 NA nonsynonymous SNV ENSG00000178965:ENST00000326665:exon14:c.T3166G:p.L1056V NA NA 1p31.1 NA NA NA NA rs11580409 0.39 0.39 0.378 0.375799 0.3579 0.5794 0.33 0.2466 0.3916 0.36 0.6 0.3 0.25 0.3785 0.6 0.37 T 0.0 B 0.0 B . . 1.000 P -1.1 N 2.83 T -0.900 T 0.003 T 0.015 -1.451 0.019 2.51 0.520 -0.554 7.414 -1.451229 NA 0 0.372209 0.251248 NA 0.348 NA 7.2247244 930 19 40368395 40368395 C T exonic FCGBP NA nonsynonymous SNV FCGBP:NM_003890:exon28:c.G12953A:p.R4318H exonic ENSG00000090920 NA nonsynonymous SNV ENSG00000090920:ENST00000221347:exon28:c.G12953A:p.R4318H NA NA 19q13.2 NA NA NA NA rs28472548 0.65 0.65 0.688 0.608826 0.5646 0.7252 0.5605 0.6104 0.5665 0.59 0.74 0.6 0.68 0.5441 0.74 0.17 T 0.0 B 0.001 B 0.909 N 1.000 P 0.79 N -1.05 T -0.914 T 0.000 T 0.088 -0.247 2.811 3.05 0.238 -0.731 7.853 -0.247062 NA 0.22 NA NA NA NA NA 7.2246334 930 2 159860395 159860395 C T intronic TANC1 NA NA NA ncRNA_intronic ENSG00000213189 NA NA NA Score=756;Name=lod=1576 NA 2q24.2 NA Name=YY1_(C-20),E2F6_(H-50) Name=6 NA rs74584069 0.07 0.07 0.063 0.0694888 0.1103 0.0595 0.0605 0.0439 0.0787 0.09 0.05 0.07 0.05 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.499165 2.499165 NA NA NA NA 0.058 NA 7.2230333 930 2 96795608 96795608 T G exonic ASTL NA nonsynonymous SNV ASTL:NM_001002036:exon8:c.A829C:p.K277Q exonic ENSG00000188886 NA nonsynonymous SNV ENSG00000188886:ENST00000342380:exon8:c.A829C:p.K277Q NA NA 2q11.1 NA NA NA NA rs1657502 0.42 0.42 0.368 0.384185 0.3559 0.621 0.4712 0.2784 0.2505 0.37 0.61 0.42 0.26 0.3932 0.61 0.26 T 0.026 B 0.025 B 0.257 N 1.000 P 1.65 L -0.1 T -0.907 T 0.000 T 0.049 1.931 12.41 -2.33 -0.187 0.677 12.28 1.930962 1.930962 0.22 0.362209 0.294371 NA 0.435 NA 7.2220244 930 9 37592452 37592452 G A exonic TOMM5 NA synonymous SNV TOMM5:NM_001001790:exon1:c.C78T:p.S26S,TOMM5:NM_001134484:exon1:c.C78T:p.S26S,TOMM5:NM_001134485:exon1:c.C78T:p.S26S exonic ENSG00000175768,ENSG00000256966 NA synonymous SNV ENSG00000175768:ENST00000321301:exon1:c.C78T:p.S26S,ENSG00000175768:ENST00000377773:exon1:c.C78T:p.S26S,ENSG00000175768:ENST00000401811:exon1:c.C78T:p.S26S,ENSG00000256966:ENST00000537239:exon1:c.C15T:p.S5S,ENSG00000175768:ENST00000540941:exon1:c.C15T:p.S5S,ENSG00000175768:ENST00000544379:exon1:c.C78T:p.S26S Score=648;Name=lod=573 NA 9p13.2 NA Name=HEY1,NFKB,TBP,ELK4,Pol2(b),HA-E2F1,Pol2-4H8,ZNF263,YY1,Oct-2,POU2F2,E2F4,TAF1,E2F6,Pol2,NELFe NA NA rs7021977 0.15 0.15 0.146 0.142572 0.1581 0.001 0.1268 0.3124 0.0542 0.16 0.0017 0.14 0.31 0.136 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.758541 1.758541 NA 0.150786 0.296693 NA 0.261 NA 7.2217806 930 17 33448818 33448818 T C exonic FNDC8 NA nonsynonymous SNV FNDC8:NM_017559:exon1:c.T106C:p.S36P exonic ENSG00000073598 NA nonsynonymous SNV ENSG00000073598:ENST00000158009:exon1:c.T106C:p.S36P Score=399;Name=lod=56 NA 17q12 NA NA NA NA rs1871892 0.8 0.8 0.803 0.840256 0.6769 0.9137 0.8357 0.8661 0.9008 0.67 0.92 0.81 0.86 0.7532 0.92 1 T 0.0 B 0.0 B 0.778 N 1.000 P -0.805 N 1.83 T -0.988 T 0.000 T 0.036 -0.525 1.608 3.61 0.638 0.372 6.577 -0.524872 NA NA 0.68186 0.857467 NA 0.804 NA 7.2213734 930 5 147012291 147012291 G A exonic JAKMIP2 NA synonymous SNV JAKMIP2:NM_001270934:exon12:c.C1665T:p.D555D,JAKMIP2:NM_001270941:exon13:c.C1728T:p.D576D,JAKMIP2:NM_014790:exon13:c.C1728T:p.D576D exonic ENSG00000176049 NA synonymous SNV ENSG00000176049:ENST00000333010:exon12:c.C1602T:p.D534D,ENSG00000176049:ENST00000507386:exon12:c.C1665T:p.D555D,ENSG00000176049:ENST00000265272:exon13:c.C1728T:p.D576D Score=669;Name=lod=698 NA 5q32 NA NA Name=2 NA rs3763094 0.13 0.13 0.115 0.157149 0.1551 0.2073 0.2233 0.0212 0.2444 0.14 0.19 0.18 0.03 0.1597 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163124 NA NA 0.131744 0.038584 NA 0.152 NA 7.2201226 930 7 94030899 94030899 T C exonic COL1A2 NA synonymous SNV COL1A2:NM_000089:exon6:c.T246C:p.D82D exonic ENSG00000164692 NA synonymous SNV ENSG00000164692:ENST00000297268:exon6:c.T246C:p.D82D Score=519;Name=lod=172 NA 7q21.3 NA NA Name=16 NA rs1800222 0.31 0.31 0.329 0.304313 0.1491 0.3948 0.1729 0.5741 0.0992 0.13 0.42 0.18 0.56 0.1744 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311722 NA NA 0.123256 0.503404 NA 0.225 NA 7.2199106 930 7 21723431 21723431 G A exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon32:c.G5490A:p.L1830L exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000409508:exon32:c.G5490A:p.L1830L,ENSG00000105877:ENST00000328843:exon33:c.G5511A:p.L1837L Score=487;Name=lod=127 NA 7p15.3 NA NA NA NA rs55666134 0.12 0.12 0.121 0.102236 0.164 0.1429 0.1023 0.0189 0.1094 0.16 0.15 0.12 0.02 0.1346 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611581 NA NA 0.150157 0.043647 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079623.1;CLNDSDB=.;CLNDSDBID=. 7.2179096 930 19 3979408 3979408 A G exonic EEF2 NA synonymous SNV EEF2:NM_001961:exon11:c.T1632C:p.H544H exonic ENSG00000167658 NA synonymous SNV ENSG00000167658:ENST00000309311:exon11:c.T1632C:p.H544H Score=417;Name=lod=66 NA 19p13.3 NA Name=ZNF263,Pol2-4H8,CTCF_(SC-5916) Name=4 NA rs36526 0.9 0.9 0.903 0.913139 0.8012 0.9931 0.8631 0.9894 0.8783 0.81 0.99 0.84 0.98 0.8493 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522755 NA NA 0.798372 0.961189 NA 0.775 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116939.2;CLNDSDB=.;CLNDSDBID=. 7.2177946 930 2 165586466 165586466 T C exonic COBLL1 NA synonymous SNV COBLL1:NM_014900:exon3:c.A390G:p.P130P exonic ENSG00000082438 NA synonymous SNV ENSG00000082438:ENST00000342193:exon3:c.A390G:p.P130P,ENSG00000082438:ENST00000375458:exon3:c.A390G:p.P130P,ENSG00000082438:ENST00000456693:exon3:c.A315G:p.P105P,ENSG00000082438:ENST00000392717:exon4:c.A504G:p.P168P,ENSG00000082438:ENST00000409184:exon4:c.A504G:p.P168P,ENSG00000082438:ENST00000414843:exon4:c.A390G:p.P130P,ENSG00000082438:ENST00000439313:exon4:c.A411G:p.P137P,ENSG00000082438:ENST00000448708:exon4:c.A390G:p.P130P,ENSG00000082438:ENST00000456171:exon4:c.A390G:p.P130P,ENSG00000082438:ENST00000194871:exon5:c.A549G:p.P183P,ENSG00000082438:ENST00000444537:exon5:c.A456G:p.P152P Score=593;Name=lod=342 NA 2q24.3 NA NA NA NA rs13392281 0.18 0.18 0.175 0.172524 0.1571 0.1052 0.111 0.329 0.09 0.16 0.12 0.11 0.32 0.1454 0.32 . . . . . . . . 0.000 P . . . . -0.980 T 0.000 T . 1.02 9.165 1.87 0.449 0.487 7.145 1.019676 NA NA 0.147674 0.310173 NA 0.196 NA 7.2164926 930 7 30791848 30791848 G A exonic INMT NA nonsynonymous SNV INMT:NM_001199219:exon1:c.G82A:p.D28N,INMT:NM_006774:exon1:c.G82A:p.D28N exonic ENSG00000241644,ENSG00000254959 NA nonsynonymous SNV ENSG00000241644:ENST00000013222:exon1:c.G82A:p.D28N,ENSG00000241644:ENST00000409539:exon1:c.G82A:p.D28N,ENSG00000254959:ENST00000458257:exon1:c.G82A:p.D28N NA NA 7p14.3 NA NA NA NA rs4723010 0.26 0.26 0.238 0.258786 0.3936 0.0367 0.3314 0.2784 0.271 0.39 0.03 0.34 0.26 0.3301 0.39 0.54 T 0.004 B 0.009 B 0.552 N 1.000 P 1.67 L 3.01 T -0.901 T 0.000 T 0.046 0.362 5.964 -2.41 -0.566 -0.185 1.737 0.36185 NA 0.53 0.393488 0.283477 NA 0.283 NA 7.2161454 930 19 1004740 1004740 T C exonic GRIN3B NA nonsynonymous SNV GRIN3B:NM_138690:exon3:c.T1240C:p.W414R exonic ENSG00000116032 NA nonsynonymous SNV ENSG00000116032:ENST00000234389:exon3:c.T1240C:p.W414R NA NA 19p13.3 NA Name=Pol2 NA NA rs2240157 0.65 0.65 0.639 0.68151 0.7157 0.501 0.5403 0.8048 0.7658 0.71 0.48 0.6 0.79 0.6898 0.79 0.55 T 0.0 B 0.0 B 0.024 N 1.000 P -2.175 N 0.88 T -0.988 T 0.000 T 0.044 -1.149 0.103 3.35 0.880 0.585 9.816 -1.149021 NA 0.86 0.711888 0.785552 NA 0.717 NA 7.2159454 931 2 182521578 182521578 G A exonic CERKL NA synonymous SNV CERKL:NM_001030311:exon1:c.C156T:p.F52F,CERKL:NM_001030312:exon1:c.C156T:p.F52F,CERKL:NM_001030313:exon1:c.C156T:p.F52F,CERKL:NM_001160277:exon1:c.C156T:p.F52F,CERKL:NM_201548:exon1:c.C156T:p.F52F exonic ENSG00000188452 NA synonymous SNV ENSG00000188452:ENST00000339098:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000374967:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000374969:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000374970:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000409440:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000410087:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000421817:exon1:c.C156T:p.F52F,ENSG00000188452:ENST00000452174:exon1:c.C156T:p.F52F Score=497;Name=lod=139 NA 2q31.3 NA Name=CtBP2,ZNF263,Pol2,CTCF Name=43 NA rs1473295 0.48 0.48 0.421 0.507388 0.4433 0.7312 0.5216 0.1747 0.7822 0.43 0.74 0.49 0.23 0.5257 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453347 1.453347 NA 0.482787 0.244439 NA 0.42 NA 7.2148796 931 12 4830000 4830000 T G exonic GALNT8 NA nonsynonymous SNV GALNT8:NM_017417:exon1:c.T157G:p.Y53D exonic ENSG00000130035 NA nonsynonymous SNV ENSG00000130035:ENST00000252318:exon1:c.T157G:p.Y53D NA NA 12p13.32 NA NA Name=3 NA rs10849133 0.41 0.41 0.396 0.381989 0.3777 0.3611 0.415 0.4977 0.228 0.37 0.4 0.4 0.51 0.3594 0.51 0.64 T 0.0 B 0.0 B 0.000 N 1.000 P -0.69 N 0.69 T -0.938 T 0.000 T 0.019 -0.703 0.963 0.482 -0.294 0.341 0.275 -0.702517 NA 0.54 0.38186 0.465275 ID=COSM1128586;OCCURENCE=1(prostate) 0.406 NA 7.2143734 931 6 159185563 159185563 T A exonic SYTL3 NA nonsynonymous SNV SYTL3:NM_001242395:exon16:c.T1556A:p.L519Q,SYTL3:NM_001009991:exon17:c.T1556A:p.L519Q,SYTL3:NM_001242394:exon18:c.T1760A:p.L587Q,SYTL3:NM_001242384:exon19:c.T1760A:p.L587Q exonic ENSG00000164674 NA nonsynonymous SNV ENSG00000164674:ENST00000367081:exon10:c.T938A:p.L313Q,ENSG00000164674:ENST00000297239:exon17:c.T1760A:p.L587Q,ENSG00000164674:ENST00000360448:exon17:c.T1556A:p.L519Q NA NA 6q25.3 NA Name=Pol2-4H8,Oct-2,Pol2,POU2F2 NA NA rs3123101 0.53 0.53 0.524 0.539537 0.7386 0.2143 0.4352 0.6256 0.6278 0.75 0.19 0.51 0.62 0.6406 0.75 0.57 T 0.0 B 0.0 B 0.029 N 1.000 P -1.04 N 2.26 T -1.030 T 0.024 T 0.193 0.295 5.595 3.22 0.292 0.852 5.885 0.294611 NA 1 0.74093 0.675216 NA 0.529 NA 7.2132034 931 3 121563355 121563355 T C exonic EAF2 NA synonymous SNV EAF2:NM_018456:exon2:c.T162C:p.G54G exonic ENSG00000145088 NA synonymous SNV ENSG00000145088:ENST00000273668:exon2:c.T162C:p.G54G,ENSG00000145088:ENST00000451944:exon2:c.T162C:p.G54G,ENSG00000145088:ENST00000490434:exon2:c.T162C:p.G54G Score=620;Name=lod=441 NA 3q13.33 Score=896;Name=V$AREB6_02 NA NA NA rs9884018 0.27 0.27 0.261 0.246206 0.1382 0.6161 0.1455 0.1339 0.1994 0.14 0.64 0.14 0.13 0.1787 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525168 NA NA 0.137674 0.162279 ID=COSM1130361;OCCURENCE=1(prostate) 0.159 NA 7.2120926 931 11 32956620 32956620 A G exonic QSER1 NA synonymous SNV QSER1:NM_001076786:exon4:c.A3429G:p.P1143P exonic ENSG00000060749 NA synonymous SNV ENSG00000060749:ENST00000399302:exon4:c.A3429G:p.P1143P,ENSG00000060749:ENST00000527788:exon5:c.A2712G:p.P904P Score=634;Name=lod=501 NA 11p13 NA NA NA NA rs7481878 0.81 0.81 0.773 0.797923 0.8082 0.995 0.8458 0.5522 0.8824 0.81 0.99 0.82 0.58 0.8249 0.99 . . . . . . . . 0.000 P . . . . -1.007 T 0.000 T . 0.128 4.688 3.08 0.919 2.018 6.649 0.127842 NA NA 0.822364 0.588749 NA 0.833 NA 7.2112026 931 19 9024994 9024994 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon16:c.G36868A:p.E12290K exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon16:c.G36868A:p.E12290K NA NA 19p13.2 NA NA NA NA rs67631215 0.31 0.31 0.307 0.304113 0.4026 0.2421 0.2939 0.2201 0.3875 0.41 0.27 0.33 0.21 0.3414 0.41 0 D 0.009 B 0.013 B . . . . 1.6 L 0.94 T -0.971 T 0.000 T 0.022 1.283 10.19 1.51 0.643 -0.021 5.630 1.282635 1.282635 NA 0.378751 0.247033 ID=COSM148476;OCCURENCE=1(stomach) 0.297 NA 7.2105824 931 14 81562998 81562998 T C exonic TSHR NA synonymous SNV TSHR:NM_000369:exon7:c.T561C:p.N187N,TSHR:NM_001018036:exon7:c.T561C:p.N187N,TSHR:NM_001142626:exon7:c.T561C:p.N187N exonic ENSG00000165409 NA synonymous SNV ENSG00000165409:ENST00000298171:exon7:c.T561C:p.N187N,ENSG00000165409:ENST00000342443:exon7:c.T561C:p.N187N,ENSG00000165409:ENST00000554263:exon7:c.T561C:p.N187N,ENSG00000165409:ENST00000554435:exon7:c.T561C:p.N187N,ENSG00000165409:ENST00000541158:exon8:c.T561C:p.N187N Score=458;Name=lod=97 NA 14q31.1 Score=945;Name=V$SOX5_01 NA NA NA rs2075179 0.29 0.29 0.321 0.30012 0.1292 0.3036 0.1427 0.5953 0.1851 0.12 0.31 0.14 0.62 0.1913 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965478 NA NA 0.135698 0.531321 ID=COSM147826;OCCURENCE=1(stomach) 0.268 NA 7.2104686 931 7 107872816 107872816 G A exonic NRCAM NA synonymous SNV NRCAM:NM_001037132:exon4:c.C381T:p.N127N,NRCAM:NM_005010:exon6:c.C363T:p.N121N,NRCAM:NM_001193582:exon7:c.C381T:p.N127N,NRCAM:NM_001193583:exon7:c.C381T:p.N127N,NRCAM:NM_001193584:exon7:c.C381T:p.N127N exonic ENSG00000091129 NA synonymous SNV ENSG00000091129:ENST00000417701:exon4:c.C363T:p.N121N,ENSG00000091129:ENST00000425651:exon4:c.C381T:p.N127N,ENSG00000091129:ENST00000351718:exon6:c.C363T:p.N121N,ENSG00000091129:ENST00000379024:exon7:c.C381T:p.N127N,ENSG00000091129:ENST00000379028:exon7:c.C381T:p.N127N,ENSG00000091129:ENST00000379022:exon8:c.C381T:p.N127N,ENSG00000091129:ENST00000413765:exon8:c.C381T:p.N127N Score=483;Name=lod=123 NA 7q31.1 NA NA Name=11 NA rs2072546 0.23 0.23 0.196 0.213059 0.1243 0.5466 0.2723 0.0061 0.1984 0.13 0.54 0.25 0.01 0.1966 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214067 NA NA 0.135814 0.032683 ID=COSM1447237,COSM1447238;OCCURENCE=1(large_intestine) 0.109 NA 7.2099526 931 20 16410559 16410559 A T exonic KIF16B NA synonymous SNV KIF16B:NM_001199865:exon13:c.T1371A:p.I457I,KIF16B:NM_001199866:exon13:c.T1371A:p.I457I,KIF16B:NM_024704:exon13:c.T1371A:p.I457I exonic ENSG00000089177 NA synonymous SNV ENSG00000089177:ENST00000354981:exon13:c.T1371A:p.I457I,ENSG00000089177:ENST00000355755:exon13:c.T1371A:p.I457I,ENSG00000089177:ENST00000408042:exon13:c.T1371A:p.I457I Score=648;Name=lod=576 NA 20p12.1 Score=873;Name=V$OCT1_Q6 NA NA NA rs34550969 0.09 0.09 0.085 0.0780751 0.173 0.0179 0.1196 0.0076 0.1084 0.17 0.02 0.12 0.01 0.1216 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.420389 1.420389 NA 0.162791 0.031321 NA 0.116 NA 7.2092756 931 7 66648157 66648157 C T exonic TYW1 NA synonymous SNV TYW1:NM_018264:exon14:c.C1743T:p.N581N exonic ENSG00000198874 NA synonymous SNV ENSG00000198874:ENST00000359626:exon14:c.C1743T:p.N581N Score=524;Name=lod=180 NA 7q11.21 NA NA Name=15 NA rs4145350 0.22 0.22 0.19 NA NA NA NA NA NA 0.21 0.08 0.23 0.37 0.224 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022663 NA NA 0.233721 0.344303 NA 0.058 NA 7.2089456 931 2 71044211 71044211 C T exonic CLEC4F NA nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G302A:p.R101Q,CLEC4F:NM_173535:exon4:c.G302A:p.R101Q exonic ENSG00000152672 NA nonsynonymous SNV ENSG00000152672:ENST00000272367:exon4:c.G302A:p.R101Q,ENSG00000152672:ENST00000426626:exon4:c.G302A:p.R101Q NA NA 2p13.3 NA NA NA NA rs2075221 0.35 0.35 0.328 0.330471 0.3817 0.5248 0.402 0.028 0.4356 0.38 0.6 0.34 0.03 0.3759 0.6 1 T 0.001 B 0.0 B 0.100 N 1.000 P -1.7 N 5.0 T -1.032 T 0.000 T 0.019 -0.508 1.674 3.88 0.878 0.690 7.714 -0.508202 NA 1 0.36686 0.096005 NA 0.29 NA 7.2088734 931 17 39119942 39119942 G A exonic KRT39 NA synonymous SNV KRT39:NM_213656:exon3:c.C645T:p.D215D exonic ENSG00000196859 NA synonymous SNV ENSG00000196859:ENST00000355612:exon3:c.C645T:p.D215D Score=535;Name=lod=200 NA 17q21.2 NA Name=CTCF NA NA rs17843020 0.1 0.1 0.093 0.108027 0.1581 0.0327 0.1484 0.0303 0.2106 0.16 0.04 0.14 0.04 0.1431 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540288 NA NA 0.156657 0.040626 NA 0.123 NA 7.2088096 931 11 6588228 6588228 G A exonic DNHD1 NA nonsynonymous SNV DNHD1:NM_144666:exon36:c.G11489A:p.R3830H exonic ENSG00000179532 NA nonsynonymous SNV ENSG00000179532:ENST00000525080:exon2:c.G233A:p.R78H,ENSG00000179532:ENST00000527990:exon34:c.G11489A:p.R3830H,ENSG00000179532:ENST00000254579:exon36:c.G11489A:p.R3830H NA NA 11p15.4 NA NA Name=4 NA rs10769699 0.28 0.28 0.267 0.233027 0.4095 0.2222 0.3098 0.0734 0.2239 0.4 0.26 0.33 0.06 0.3304 0.4 0.19 T 0.029 B 0.005 B 0.809 N 1.000 P 0.205 N 1.71 T -0.908 T 0.000 T 0.174 0.689 7.681 -0.100 0.103 0.300 7.110 0.689026 NA 0.23 0.384698 0.110891 NA 0.217 NA 7.2087354 931 10 101716112 101716112 G C exonic DNMBP NA nonsynonymous SNV DNMBP:NM_015221:exon4:c.C1119G:p.N373K exonic ENSG00000107554 NA nonsynonymous SNV ENSG00000107554:ENST00000324109:exon4:c.C1119G:p.N373K,ENSG00000107554:ENST00000342239:exon4:c.C1119G:p.N373K NA NA 10q24.2 NA NA NA NA rs35924554 0.05 0.05 0.056 0.0495208 0.0398 0.0288 0.062 0.0893 0.0184 0.03 0.03 0.06 0.1 0.0452 0.1 0.89 T 0.049 B 0.016 B 0.095 N 1.000 P 0.55 N 2.85 T -1.006 T 0.001 T 0.025 -0.096 3.528 -1.33 0.069 0.245 5.627 -0.096237 NA 0.93 0.04 0.076714 NA 0.036 NA 7.2083334 931 1 40149642 40149642 G T exonic HPCAL4 NA synonymous SNV HPCAL4:NM_016257:exon3:c.C345A:p.R115R exonic ENSG00000116983 NA synonymous SNV ENSG00000116983:ENST00000372844:exon3:c.C345A:p.R115R Score=735;Name=lod=1298 NA 1p34.2 Score=874;Name=V$MYCMAX_02 Name=ELF1_(SC-631) Name=4 NA rs784634 0.84 0.84 0.845 0.85623 0.825 0.8165 0.8256 0.9191 0.8661 0.81 0.81 0.86 0.9 0.8273 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459296 1.459296 NA 0.806512 0.875795 ID=COSM426246;OCCURENCE=1(breast),1(large_intestine) 0.783 NA 7.2078546 931 16 71950450 71950450 C T exonic IST1 NA synonymous SNV IST1:NM_001270975:exon3:c.C174T:p.H58H,IST1:NM_001270977:exon3:c.C174T:p.H58H,IST1:NM_014761:exon3:c.C174T:p.H58H,IST1:NM_001270976:exon4:c.C213T:p.H71H exonic ENSG00000182149,ENSG00000261750 NA synonymous SNV ENSG00000182149:ENST00000329908:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000378798:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000378799:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000424485:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000534994:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000535424:exon3:c.C213T:p.H71H,ENSG00000182149:ENST00000537613:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000539186:exon3:c.C174T:p.H58H,ENSG00000182149:ENST00000540296:exon4:c.C174T:p.H58H,ENSG00000182149:ENST00000541571:exon4:c.C174T:p.H58H,ENSG00000182149:ENST00000541918:exon4:c.C174T:p.H58H,ENSG00000261750:ENST00000568581:exon4:c.C174T:p.H58H,ENSG00000182149:ENST00000544564:exon5:c.C174T:p.H58H Score=533;Name=lod=196 NA 16q22.2 Score=748;Name=V$STAT5A_02 NA NA NA rs1049794 0.18 0.18 0.176 0.203674 0.1421 0.2708 0.1268 0.0809 0.4182 0.14 0.31 0.14 0.1 0.1787 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137774 NA NA 0.138721 0.067561 NA 0.13 NA 7.2071456 931 6 31525448 31525448 C T exonic NFKBIL1 NA synonymous SNV NFKBIL1:NM_001144961:exon3:c.C378T:p.S126S,NFKBIL1:NM_001144962:exon3:c.C309T:p.S103S,NFKBIL1:NM_001144963:exon3:c.C309T:p.S103S,NFKBIL1:NM_005007:exon3:c.C378T:p.S126S exonic ENSG00000204498 NA synonymous SNV ENSG00000204498:ENST00000376145:exon3:c.C378T:p.S126S,ENSG00000204498:ENST00000376146:exon3:c.C309T:p.S103S,ENSG00000204498:ENST00000376148:exon3:c.C378T:p.S126S Score=593;Name=lod=343 NA 6p21.33 NA Name=YY1_(C-20) NA NA rs2230365 0.14 0.14 0.141 0.141773 0.1372 0.2103 0.1225 0.0477 0.2168 0.14 0.23 0.14 0.05 0.169 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849619 NA NA 0.153721 0.06355 NA 0.21 NA 7.2067456 931 19 15586672 15586672 A T exonic PGLYRP2 NA nonsynonymous SNV PGLYRP2:NM_052890:exon2:c.T809A:p.M270K exonic ENSG00000161031 NA nonsynonymous SNV ENSG00000161031:ENST00000292609:exon2:c.T809A:p.M270K,ENSG00000161031:ENST00000340880:exon2:c.T809A:p.M270K NA NA 19p13.12 NA NA NA NA rs892145 0.37 0.37 0.387 0.366214 0.3917 0.3631 0.3444 0.4077 0.3027 0.39 0.36 0.32 0.4 0.3594 0.4 0.34 T 0.137 B 0.104 B 0.584 N 1.000 P 1.95 M 3.69 T -0.925 T 0.000 T 0.167 0.267 5.442 -1.07 -0.419 -0.159 12.759 0.266646 NA 0.23 0.376512 0.38788 ID=COSM1129966,COSM1129965;OCCURENCE=1(prostate),1(large_intestine) 0.464 NA 7.2057214 932 20 44644965 44644965 G A exonic MMP9 NA synonymous SNV MMP9:NM_004994:exon13:c.G2082A:p.V694V exonic ENSG00000100985 NA synonymous SNV ENSG00000100985:ENST00000372330:exon13:c.G2082A:p.V694V Score=472;Name=lod=111 NA 20q13.12 Score=854;Name=V$USF_01 NA NA NA rs13925 0.16 0.16 0.153 0.165136 0.175 0.1637 0.0778 0.1392 0.2536 0.18 0.18 0.1 0.15 0.1489 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247821 NA NA 0.138023 0.149342 NA 0.116 NA 7.2047436 932 6 86199233 86199233 A G exonic NT5E NA nonsynonymous SNV NT5E:NM_001204813:exon6:c.A1126G:p.T376A,NT5E:NM_002526:exon6:c.A1126G:p.T376A exonic ENSG00000135318 NA nonsynonymous SNV ENSG00000135318:ENST00000257770:exon6:c.A1126G:p.T376A,ENSG00000135318:ENST00000369651:exon6:c.A1126G:p.T376A Score=272;Name=lod=17 NA 6q14.3 Score=690;Name=V$BRACH_01 NA NA NA rs2229523 0.76 0.76 0.753 0.793331 0.7028 0.5972 0.8401 0.9644 0.8241 0.71 0.6 0.84 0.95 0.734 0.95 0.31 T 0.0 B 0.001 B 0.169 N 0.000 P -0.355 N 0.59 T -1.010 T 0.018 T 0.202 0.121 4.651 -0.403 -0.825 -0.070 1.809 0.121107 NA 0.15 0.692442 0.924875 NA 0.877 NA 7.2040914 932 12 52938364 52938364 T C exonic KRT71 NA synonymous SNV KRT71:NM_033448:exon9:c.A1524G:p.L508L exonic ENSG00000139648 NA synonymous SNV ENSG00000139648:ENST00000267119:exon9:c.A1524G:p.L508L Score=317;Name=lod=26 NA 12q13.13 NA Name=CTCF Name=8 NA rs2292507 0.39 0.39 0.341 0.327276 0.507 0.5 0.4712 0.028 0.2669 0.51 0.47 0.49 0.05 0.4416 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217089 NA NA 0.514302 0.10236 NA 0.384 NA 7.2037646 932 10 96076495 96076495 C G exonic PLCE1 NA synonymous SNV PLCE1:NM_001165979:exon28:c.C5400G:p.V1800V,PLCE1:NM_016341:exon29:c.C6324G:p.V2108V exonic ENSG00000138193 NA synonymous SNV ENSG00000138193:ENST00000371375:exon28:c.C5400G:p.V1800V,ENSG00000138193:ENST00000371380:exon28:c.C6324G:p.V2108V,ENSG00000138193:ENST00000371385:exon28:c.C5400G:p.V1800V,ENSG00000138193:ENST00000260766:exon29:c.C6324G:p.V2108V Score=537;Name=lod=203 NA 10q23.33 NA NA Name=4 NA rs942676 0.09 0.09 0.067 0.0870607 0.1571 0.003 0.1873 0.0053 0.1411 0.17 0.0017 0.15 0.01 0.1456 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450553 NA NA 0.16054 0.028451 NA 0.087 NA 7.2034266 932 19 57760018 57760018 G A exonic ZNF805 NA nonsynonymous SNV ZNF805:NM_001023563:exon3:c.G203A:p.G68E exonic ENSG00000204524 NA nonsynonymous SNV ENSG00000204524:ENST00000414468:exon3:c.G203A:p.G68E NA Name=Hyperactive-impulsive symptoms 19q13.43 NA NA NA NA rs2014572 0.39 0.39 0.371 0.368411 0.5746 0.1815 0.4496 0.2481 0.454 0.57 0.2 0.48 0.26 0.5375 0.57 0.33 T 0.682 P 0.154 B . . 1.000 P 1.14 L 5.57 T -1.183 T 0.000 T 0.015 1.767 11.87 -0.004 -0.048 0.261 10.973 1.767179 1.767179 0.08 0.517913 0.276012 NA 0.391 NA 7.2033204 932 16 30021402 30021402 C T exonic DOC2A NA nonsynonymous SNV DOC2A:NM_003586:exon2:c.G142A:p.G48S exonic ENSG00000149927 NA nonsynonymous SNV ENSG00000149927:ENST00000350119:exon2:c.G142A:p.G48S,ENSG00000149927:ENST00000564979:exon2:c.G142A:p.G48S,ENSG00000149927:ENST00000565273:exon2:c.G142A:p.G48S,ENSG00000149927:ENST00000563378:exon3:c.G142A:p.G48S,ENSG00000149927:ENST00000564944:exon3:c.G142A:p.G48S NA NA 16p11.2 NA Name=Egr-1 NA NA rs1140239 0.32 0.32 0.3 0.326078 0.3847 0.376 0.2954 0.1604 0.4601 0.38 0.36 0.32 0.16 0.368 0.38 0.95 T 0.002 B 0.001 B 0.446 N 1.000 P 0.345 N 0.14 T -0.980 T 0.000 T 0.323 0.037 4.206 1.81 0.401 0.322 5.790 0.036904 NA 0.48 0.378734 0.162857 NA 0.261 NA 7.2018994 932 19 18376518 18376518 T A exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.A1832T:p.Q611L,KIAA1683:NM_001145305:exon3:c.A1694T:p.Q565L,KIAA1683:NM_025249:exon3:c.A1832T:p.Q611L exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.A1832T:p.Q611L,ENSG00000130518:ENST00000600328:exon3:c.A1832T:p.Q611L,ENSG00000130518:ENST00000600359:exon3:c.A1694T:p.Q565L NA NA 19p13.11 NA NA NA NA rs61740751 0.02 0.02 0.02 0.0157748 0.0427 0.001 0.0173 0.0045 0.0174 0.05 NA 0.02 NA 0.0351 0.054 0.28 T 0.447 B 0.177 B 0.368 N 1.000 N 1.525 L 3.85 T -0.939 T 0.002 T 0.189 1.799 11.97 1.91 0.082 0.515 4.895 1.798598 1.798598 0.11 0.053837 0.011121 NA 0.007 NA 7.2016964 932 1 17550121 17550121 G A exonic PADI1 NA synonymous SNV PADI1:NM_013358:exon3:c.G279A:p.R93R exonic ENSG00000142623 NA synonymous SNV ENSG00000142623:ENST00000375471:exon3:c.G279A:p.R93R Score=300;Name=lod=22 NA 1p36.13 Score=889;Name=V$AREB6_01 NA NA NA rs2293912 0.15 0.15 0.099 0.146765 0.1402 0.1567 0.3084 0.0477 0.1626 0.14 0.15 0.29 0.06 0.1662 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450797 NA NA 0.159767 0.054698 NA 0.101 NA 7.2004996 932 4 55152040 55152040 C T exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon18:c.C2472T:p.V824V exonic ENSG00000134853,ENSG00000145216 NA synonymous SNV ENSG00000134853:ENST00000257290:exon18:c.C2472T:p.V824V,ENSG00000145216:ENST00000507166:exon19:c.C1752T:p.V584V Score=529;Name=lod=188 NA 4q12 Score=854;Name=V$CMYB_01 NA NA NA rs2228230 0.21 0.21 0.212 0.240415 0.1451 0.1726 0.2767 0.3449 0.2413 0.15 0.17 0.23 0.32 0.182 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.386375 1.386375 NA 0.139302 0.313436 ID=COSM22413;OCCURENCE=2(central_nervous_system),1(endometrium),11(soft_tissue) 0.275 NA 7.2002646 932 11 100922202 100922202 G A exonic PGR NA synonymous SNV PGR:NM_001271161:exon4:c.C1512T:p.H504H,PGR:NM_000926:exon5:c.C2310T:p.H770H,PGR:NM_001202474:exon5:c.C1818T:p.H606H,PGR:NM_001271162:exon5:c.C528T:p.H176H exonic ENSG00000082175 NA synonymous SNV ENSG00000082175:ENST00000263463:exon4:c.C2004T:p.H668H,ENSG00000082175:ENST00000526300:exon4:c.C2004T:p.H668H,ENSG00000082175:ENST00000528960:exon4:c.C2193T:p.H731H,ENSG00000082175:ENST00000325455:exon5:c.C2310T:p.H770H,ENSG00000082175:ENST00000534013:exon5:c.C528T:p.H176H,ENSG00000082175:ENST00000534780:exon5:c.C2310T:p.H770H Score=632;Name=lod=495 NA 11q22.1 Score=734;Name=V$SEF1_C NA NA NA rs1042839 0.1 0.1 0.085 0.0702875 0.1789 0.0099 0.1354 0.0061 0.0613 0.19 0.01 0.15 0.02 0.1242 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096181 NA NA 0.163605 0.029732 NA 0.101 NA 7.1999616 932 17 39274518 39274518 C T exonic KRTAP4-11 NA nonsynonymous SNV KRTAP4-11:NM_033059:exon1:c.G50A:p.R17Q exonic ENSG00000212721 NA nonsynonymous SNV ENSG00000212721:ENST00000391413:exon1:c.G50A:p.R17Q NA NA 17q21.2 NA NA Name=9 NA rs9897031 0.69 0.69 0.703 0.6877 0.7137 0.4306 0.6686 0.9622 0.5685 0.71 0.44 0.69 0.96 0.6982 0.96 0.7 T 0.0 B 0.0 B 0.912 N 1.000 P -1.405 N 6.36 T -1.048 T 0.000 T 0.051 -1.891 0.008 -0.215 -0.140 2.115 2.927 -1.890787 NA 1 0.721559 0.932081 NA 0.486 NA 7.1998744 932 11 18422487 18422487 C A exonic LDHA NA synonymous SNV LDHA:NM_001165414:exon4:c.C435A:p.I145I,LDHA:NM_001165415:exon4:c.C348A:p.I116I,LDHA:NM_001165416:exon4:c.C348A:p.I116I,LDHA:NM_005566:exon4:c.C348A:p.I116I exonic ENSG00000134333 NA synonymous SNV ENSG00000134333:ENST00000542179:exon3:c.C348A:p.I116I,ENSG00000134333:ENST00000227157:exon4:c.C348A:p.I116I,ENSG00000134333:ENST00000379412:exon4:c.C348A:p.I116I,ENSG00000134333:ENST00000396222:exon4:c.C348A:p.I116I,ENSG00000134333:ENST00000422447:exon4:c.C348A:p.I116I,ENSG00000134333:ENST00000478970:exon4:c.C348A:p.I116I,ENSG00000134333:ENST00000540430:exon4:c.C435A:p.I145I,ENSG00000134333:ENST00000543445:exon4:c.C348A:p.I116I Score=682;Name=lod=787 NA 11p15.1 NA Name=CTCF_(SC-5916) NA NA rs6498 0.1 0.1 0.089 0.0974441 0.1521 0.0645 0.1527 0.0469 0.1043 0.14 0.05 0.15 0.06 0.1442 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.503499 1.503499 NA 0.17051 0.075716 NA 0.051 NA 7.1998566 932 5 133887780 133887780 G A exonic PHF15 NA synonymous SNV PHF15:NM_015288:exon4:c.G192A:p.P64P exonic ENSG00000043143 NA synonymous SNV ENSG00000043143:ENST00000282605:exon4:c.G192A:p.P64P,ENSG00000043143:ENST00000361895:exon4:c.G192A:p.P64P,ENSG00000043143:ENST00000395003:exon4:c.G192A:p.P64P,ENSG00000043143:ENST00000402835:exon4:c.G192A:p.P64P,ENSG00000043143:ENST00000431355:exon4:c.G192A:p.P64P,ENSG00000043143:ENST00000512386:exon4:c.G192A:p.P64P NA NA 5q31.1 NA Name=STAT3,AP-2alpha,AP-2gamma Name=20 NA rs12163993 0.14 0.14 0.114 0.157947 0.1571 0.2113 0.2147 0.0454 0.2157 0.16 0.18 0.18 0.06 0.1674 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924582 NA NA 0.142558 0.052429 NA 0.065 NA 7.1996086 932 11 124793682 124793682 T C exonic HEPACAM NA nonsynonymous SNV HEPACAM:NM_152722:exon3:c.A652G:p.M218V exonic ENSG00000165478 NA nonsynonymous SNV ENSG00000165478:ENST00000298251:exon3:c.A652G:p.M218V Score=572;Name=lod=282 NA 11q24.2 NA NA NA NA rs10790715 0.78 0.78 0.794 0.79393 0.7177 0.9107 0.6398 0.8858 0.7372 0.71 0.91 0.63 0.87 0.7286 0.91 1 T 0.0 B 0.001 B 0.117 N 1.000 P -0.18 N 2.73 T -0.977 T 0.000 T 0.011 0.611 7.293 2.24 0.692 0.210 3.587 0.611459 NA 0.9 0.687485 0.877783 NA 0.746 NA 7.1995484 932 8 2037833 2037833 G C exonic MYOM2 NA synonymous SNV MYOM2:NM_003970:exon15:c.G1647C:p.S549S exonic ENSG00000036448 NA synonymous SNV ENSG00000036448:ENST00000262113:exon15:c.G1647C:p.S549S NA NA 8p23.3 NA Name=c-Myc,GATA-2,Max Name=8 NA rs2294061 0.22 0.22 0.224 0.224042 0.162 0.2083 0.1628 0.4244 0.0767 0.17 0.19 0.17 0.39 0.1592 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97405 NA NA 0.146163 0.379936 NA 0.188 NA 7.1993036 932 9 75545882 75545882 G A exonic ALDH1A1 NA synonymous SNV ALDH1A1:NM_000689:exon3:c.C225T:p.S75S exonic ENSG00000165092 NA synonymous SNV ENSG00000165092:ENST00000297785:exon3:c.C225T:p.S75S,ENSG00000165092:ENST00000376939:exon3:c.C225T:p.S75S,ENSG00000165092:ENST00000419959:exon4:c.C225T:p.S75S,ENSG00000165092:ENST00000446946:exon4:c.C225T:p.S75S Score=474;Name=lod=113 NA 9q21.13 NA Name=Rad21,CTCF,GATA3_(SC-268),Pol2,FOXA1_(C-20),CTCF_(SC-5916) Name=5 NA rs13959 0.39 0.39 0.346 0.409345 0.503 0.4554 0.4885 0.1664 0.5378 0.5 0.39 0.44 0.18 0.4653 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260667 1.260667 NA 0.499419 0.249887 NA 0.391 NA 7.1989476 932 10 53458047 53458047 A G exonic CSTF2T NA synonymous SNV CSTF2T:NM_015235:exon1:c.T1263C:p.R421R exonic ENSG00000177613 NA synonymous SNV ENSG00000177613:ENST00000331173:exon1:c.T1263C:p.R421R Score=399;Name=lod=56 NA 10q21.1 NA Name=ZNF263 NA NA rs3740228 0.24 0.24 0.247 0.2498 0.1551 0.2173 0.1196 0.4501 0.2025 0.15 0.24 0.13 0.46 0.1751 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457204 NA NA 0.138023 0.379256 ID=COSM146938;OCCURENCE=1(stomach) 0.283 NA 7.1984436 932 19 53086124 53086124 C A exonic ZNF701 NA nonsynonymous SNV ZNF701:NM_018260:exon4:c.C812A:p.T271K,ZNF701:NM_001172655:exon5:c.C1010A:p.T337K exonic ENSG00000167562 NA nonsynonymous SNV ENSG00000167562:ENST00000391785:exon4:c.C812A:p.T271K,ENSG00000167562:ENST00000301093:exon5:c.C1010A:p.T337K,ENSG00000167562:ENST00000540331:exon5:c.C1010A:p.T337K NA NA 19q13.41 NA NA NA NA rs373554 0.65 0.65 0.636 0.64397 0.7117 0.497 0.6182 0.6687 0.7106 0.72 0.51 0.65 0.71 0.697 0.73 1 T 0.0 B 0.0 B . . 1.000 P -1.405 N 2.33 T -0.993 T 0.000 T 0.07 -2.082 0.006 -0.451 -0.996 -1.575 5.814 -2.082247 NA 1 0.726512 0.668861 NA 0.681 NA 7.1981214 932 19 36015652 36015652 C T exonic SBSN NA synonymous SNV SBSN:NM_001166034:exon3:c.G1710A:p.S570S,SBSN:NM_001166035:exon3:c.G447A:p.S149S,SBSN:NM_198538:exon4:c.G681A:p.S227S exonic ENSG00000189001 NA synonymous SNV ENSG00000189001:ENST00000452271:exon3:c.G1710A:p.S570S,ENSG00000189001:ENST00000588674:exon3:c.G387A:p.S129S,ENSG00000189001:ENST00000518157:exon4:c.G681A:p.S227S Score=395;Name=lod=54 NA 19q13.12 Score=842;Name=V$FREAC2_01 NA NA NA rs17705633 0.09 0.09 0.088 0.0998403 0.1581 0.0248 0.0951 0.0825 0.1442 0.15 0.02 0.11 0.08 0.1396 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823794 NA NA 0.17186 0.103949 NA 0.094 NA 7.1971066 932 1 22915753 22915753 T C exonic EPHA8 NA nonsynonymous SNV EPHA8:NM_001006943:exon5:c.T1369C:p.S457P exonic ENSG00000070886 NA nonsynonymous SNV ENSG00000070886:ENST00000374644:exon5:c.T1369C:p.S457P,ENSG00000070886:ENST00000538803:exon6:c.T1369C:p.S457P NA NA 1p36.12 NA NA NA NA rs606002 0.43 0.43 0.453 0.481829 0.3777 0.2907 0.3761 0.7126 0.5491 0.38 0.29 0.39 0.69 0.4023 0.69 . . 0.0 B 0.0 B . . 1.000 P . . 5.0 T -1.109 T 0.000 T 0.026 0.642 7.448 -0.495 -0.528 -0.993 2.755 0.641996 NA 0 0.356628 0.654859 NA 0.507 NA 7.1967054 932 17 18565423 18565423 G A exonic ZNF286B NA nonsynonymous SNV ZNF286B:NM_001145045:exon5:c.C1396T:p.P466S exonic ENSG00000249459 NA nonsynonymous SNV ENSG00000249459:ENST00000545289:exon5:c.C1396T:p.P466S Score=497;Name=lod=139 NA 17p11.2 NA Name=KAP1,SETDB1,ZNF274 NA NA rs9912852 0.32 0.32 0.291 0.274561 0.4066 0.1935 0.4496 0.2027 0.1953 0.41 0.2 0.44 0.23 0.3395 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.582769 1.582769 NA 0.390635 0.240607 NA 0.406 NA 7.1965984 932 1 216258194 216258194 G T exonic USH2A NA synonymous SNV USH2A:NM_206933:exon25:c.C5013A:p.G1671G exonic ENSG00000042781 NA synonymous SNV ENSG00000042781:ENST00000307340:exon25:c.C5013A:p.G1671G,ENSG00000042781:ENST00000366943:exon25:c.C5013A:p.G1671G Score=483;Name=lod=123 NA 1q41 NA NA NA NA rs56110889 0.12 0.12 0.111 0.105831 0.163 NA 0.0951 0.1906 0.0491 0.16 NA 0.11 0.2 0.1353 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.149787 NA NA 0.172209 0.191557 NA 0.21 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000041853.2|RCV000126247.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.1961576 932 7 6732315 6732315 A C exonic ZNF12 NA nonsynonymous SNV ZNF12:NM_006956:exon5:c.T258G:p.D86E,ZNF12:NM_016265:exon5:c.T258G:p.D86E exonic ENSG00000164631 NA nonsynonymous SNV ENSG00000164631:ENST00000404360:exon4:c.T150G:p.D50E,ENSG00000164631:ENST00000342651:exon5:c.T258G:p.D86E,ENSG00000164631:ENST00000405858:exon5:c.T258G:p.D86E NA NA 7p22.1 NA NA NA NA rs61227179 0.06 0.06 0.066 0.0658946 0.0348 0.001 0.0331 0.1884 0.0225 0.04 NA 0.03 0.19 0.0554 0.19 0.83 T 0.043 B 0.049 B 0.304 N 1.000 P 0.535 N 3.48 T -0.932 T 0.000 T 0.024 0.604 7.256 1.77 0.221 0.737 2.906 0.604266 NA 0.06 0.047846 0.188601 NA 0.065 NA 7.1952874 933 19 49377873 49377873 G A exonic PPP1R15A NA synonymous SNV PPP1R15A:NM_014330:exon2:c.G1383A:p.L461L exonic ENSG00000087074 NA synonymous SNV ENSG00000087074:ENST00000200453:exon2:c.G1383A:p.L461L NA NA 19q13.33 NA Name=Pol2,PU.1,FOSL1_(SC-183),eGFP-JunB,ZNF263,GATA-2,c-Fos,Egr-1 Name=93 NA rs35023389 0.09 0.09 0.084 0.0836661 0.164 0.003 0.0793 0.0877 0.0818 0.16 0.0017 0.08 0.09 0.1281 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335472 NA NA 0.180116 0.130731 NA 0.138 NA 7.1944506 933 5 149008521 149008521 A G exonic ARHGEF37 NA nonsynonymous SNV ARHGEF37:NM_001001669:exon12:c.A1810G:p.M604V exonic ENSG00000183111 NA nonsynonymous SNV ENSG00000183111:ENST00000333677:exon12:c.A1810G:p.M604V NA NA 5q32 NA NA NA NA rs1135093 0.72 0.72 0.733 0.69369 0.7227 0.8363 0.5548 0.6762 0.6391 0.73 0.84 0.62 0.65 0.6952 0.84 1 T 0.0 B 0.0 B 0.645 N 1.000 P -0.41 N -0.22 T -0.962 T 0.000 T 0.022 -0.155 3.243 -3.51 -1.115 -0.573 13.533 -0.155034 NA 0.84 0.721617 0.686824 NA 0.739 NA 7.1938164 933 9 90501500 90501500 G A exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.G2098A:p.G700R exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.G2098A:p.G700R NA NA 9q22.1 NA NA NA NA rs34017995 0.08 0.08 0.081 0.077476 0.0497 NA 0.036 0.2322 0.0061 0.05 NA 0.04 0.23 0.0467 0.23 0.74 T 0.202 B 0.014 B 0.008 N 1.000 P -0.28 N 3.24 T -0.960 T 0.000 T 0.042 -1.18 0.083 -1.14 -0.284 -0.316 5.425 -1.180499 NA 0.5 0.043498 0.182251 NA 0.094 NA 7.1934354 933 22 21337325 21337325 G A exonic LZTR1 NA synonymous SNV LZTR1:NM_006767:exon2:c.G210A:p.K70K exonic ENSG00000099949 NA nonsynonymous SNV ENSG00000099949:ENST00000443265:exon2:c.G215A:p.S72N Score=514;Name=lod=163 NA 22q11.21 NA Name=Pol2 NA NA rs13054014 0.27 0.27 0.252 0.285144 0.2594 0.2014 0.3444 0.2443 0.411 0.27 0.18 0.33 0.31 0.285 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.970742 1.970742 0 0.262442 0.262143 NA 0.246 NA 7.193158 933 6 31237124 31237124 T C exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon7:c.A1087G:p.T363A,HLA-C:NM_002117:exon7:c.A1087G:p.T363A exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon7:c.A1087G:p.T363A,ENSG00000204525:ENST00000383329:exon7:c.A1105G:p.T369A NA NA 6p21.33 NA Name=Pol2-4H8 NA NA rs1130838 0.78 0.78 0.763 0.785343 0.7266 0.8135 0.8184 0.8139 0.7546 0.72 0.81 0.8 0.82 0.7331 0.82 1 T 0.0 B 0.003 B . . 1.000 P . . 5.41 T -0.991 T 0.000 T 0.205 -0.537 1.561 0.456 -0.161 -2.365 2.992 -0.536687 NA 1 0.687339 0.793377 NA 0.645 NA 7.1862944 933 1 12082926 12082926 A G exonic MIIP NA nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E exonic ENSG00000116691 NA nonsynonymous SNV ENSG00000116691:ENST00000235332:exon4:c.A499G:p.K167E,ENSG00000116691:ENST00000436478:exon4:c.A499G:p.K167E NA NA 1p36.22 NA Name=ZNF263 NA NA rs2295283 0.66 0.66 0.654 0.669329 0.7276 0.5516 0.598 0.795 0.6115 0.73 0.49 0.59 0.79 0.7058 0.79 1 T 0.0 B 0.0 B 0.201 N 1.000 P -1.79 N 2.68 T -1.010 T 0.000 T 0.016 -1.945 0.007 1.47 0.101 2.016 5.711 -1.945159 NA 0.99 0.714302 0.785066 NA 0.609 NA 7.1856314 934 11 5906205 5906205 G A exonic OR52E4 NA nonsynonymous SNV OR52E4:NM_001005165:exon1:c.G683A:p.R228H exonic ENSG00000180974 NA nonsynonymous SNV ENSG00000180974:ENST00000316987:exon1:c.G683A:p.R228H NA NA 11p15.4 NA NA NA NA rs4757987 0.43 0.43 0.439 0.422324 0.3907 0.4613 0.3516 0.4894 0.3742 0.41 0.46 0.36 0.49 0.392 0.49 0.48 T 0.003 B 0.013 B 0.006 N 1.000 P 1.655 L 8.4 T -1.082 T 0.000 T 0.02 0.431 6.342 0.047 0.078 -1.394 9.634 0.431134 NA 0.32 0.365689 0.473194 NA 0.457 NA 7.1849444 934 5 168233474 168233474 G A exonic SLIT3 NA synonymous SNV SLIT3:NM_001271946:exon9:c.C912T:p.N304N,SLIT3:NM_003062:exon9:c.C912T:p.N304N exonic ENSG00000184347 NA synonymous SNV ENSG00000184347:ENST00000332966:exon9:c.C912T:p.N304N,ENSG00000184347:ENST00000404867:exon9:c.C912T:p.N304N,ENSG00000184347:ENST00000519560:exon9:c.C912T:p.N304N Score=425;Name=lod=71 NA 5q34 Score=886;Name=V$NF1_Q6 NA NA NA rs3797715 0.18 0.18 0.158 0.155551 0.173 0.2927 0.2032 0.0348 0.1258 0.17 0.28 0.2 0.04 0.1552 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.220573 NA NA 0.153953 0.064231 NA 0.123 NA 7.1845136 934 12 6939850 6939850 A G exonic LEPREL2 NA unknown UNKNOWN exonic ENSG00000110811 NA nonsynonymous SNV ENSG00000110811:ENST00000251761:exon4:c.A346G:p.T116A,ENSG00000110811:ENST00000396725:exon5:c.A898G:p.T300A NA NA 12p13.31 NA NA NA NA rs10744716 0.62 0.62 0.609 0.641573 0.4761 0.7073 0.6628 0.8154 0.4939 0.48 0.69 0.61 0.79 0.5375 0.79 0.04 D 0.07 B 0.024 B 0.293 N 1.000 P . . 1.23 T -1.041 T 0.000 T 0.255 0.658 7.528 2.35 0.783 0.347 4.585 0.658171 NA 0.06 0.472621 0.750981 NA 0.645 NA 7.1804457 934 19 15587345 15587345 T C exonic PGLYRP2 NA nonsynonymous SNV PGLYRP2:NM_052890:exon2:c.A136G:p.T46A exonic ENSG00000161031 NA nonsynonymous SNV ENSG00000161031:ENST00000292609:exon2:c.A136G:p.T46A,ENSG00000161031:ENST00000340880:exon2:c.A136G:p.T46A,ENSG00000161031:ENST00000594637:exon3:c.A136G:p.T46A,ENSG00000161031:ENST00000601792:exon4:c.A136G:p.T46A NA NA 19p13.12 NA NA NA NA rs3813135 0.36 0.36 0.362 0.351837 0.4046 0.3651 0.3429 0.3457 0.2986 0.4 0.37 0.31 0.33 0.3646 0.4 1 T 0.0 B 0.0 B 0.857 N 1.000 P -2.2 N 3.94 T -0.925 T 0.000 T 0.013 -1.115 0.13 2.05 0.570 -0.075 6.141 -1.115003 NA 1 0.384884 0.343168 ID=COSM148524,COSM148523;OCCURENCE=1(stomach) 0.464 NA 7.1792494 934 12 52681437 52681437 A G exonic KRT81 NA synonymous SNV KRT81:NM_002281:exon6:c.T969C:p.N323N exonic ENSG00000205426 NA synonymous SNV ENSG00000205426:ENST00000327741:exon6:c.T969C:p.N323N Score=601;Name=lod=369 NA 12q13.13 Score=940;Name=V$CDPCR3HD_01 Name=Pol2 NA NA rs3187034 0.33 0.33 0.296 0.420527 0.5169 0.1577 0.3761 0.5688 0.4233 0.41 0.14 0.33 0.43 0.4619 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.479922 1.479922 NA 0.508958 0.575125 ID=COSM147519;OCCURENCE=1(stomach) 0.493 NA 7.1789086 934 15 63932513 63932513 G C exonic HERC1 NA synonymous SNV HERC1:NM_003922:exon61:c.C11739G:p.L3913L exonic ENSG00000103657 NA synonymous SNV ENSG00000103657:ENST00000443617:exon61:c.C11739G:p.L3913L Score=419;Name=lod=67 NA 15q22.31 Score=809;Name=V$ARP1_01 NA Name=3 NA rs2228517 0.32 0.32 0.288 0.321486 0.5268 0.0764 0.428 0.3056 0.3088 0.49 0.08 0.42 0.29 0.4304 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.777765 NA NA 0.530709 0.329446 ID=COSM147937;OCCURENCE=1(stomach) 0.326 NA 7.1787576 934 9 96238578 96238578 C T exonic FAM120A NA synonymous SNV FAM120A:NM_014612:exon3:c.C762T:p.H254H exonic ENSG00000048828 NA synonymous SNV ENSG00000048828:ENST00000277165:exon3:c.C762T:p.H254H,ENSG00000048828:ENST00000333936:exon3:c.C762T:p.H254H,ENSG00000048828:ENST00000340893:exon3:c.C762T:p.H254H,ENSG00000048828:ENST00000375389:exon3:c.C762T:p.H254H,ENSG00000048828:ENST00000446420:exon3:c.C294T:p.H98H Score=661;Name=lod=649 NA 9q22.31 NA NA NA NA rs10821135 0.59 0.59 0.58 0.524561 0.498 0.5972 0.5591 0.6838 0.2372 0.5 0.62 0.59 0.67 0.4968 0.67 . . . . . . . . 0.000 P . . . . -0.959 T 0.000 T . 1.092 9.458 -1.38 -0.707 1.012 11.901 1.092407 NA NA 0.493953 0.659328 ID=COSM150634;OCCURENCE=1(stomach) 0.42 NA 7.1779136 934 6 42232475 42232475 G A exonic TRERF1 NA synonymous SNV TRERF1:NM_033502:exon7:c.C1602T:p.H534H exonic ENSG00000124496 NA synonymous SNV ENSG00000124496:ENST00000340840:exon6:c.C1602T:p.H534H,ENSG00000124496:ENST00000354325:exon6:c.C1602T:p.H534H,ENSG00000124496:ENST00000372917:exon7:c.C1602T:p.H534H,ENSG00000124496:ENST00000372922:exon7:c.C1602T:p.H534H,ENSG00000124496:ENST00000541110:exon7:c.C1602T:p.H534H Score=545;Name=lod=218 NA 6p21.1 Score=906;Name=V$USF_Q6 NA NA NA rs2295274 0.14 0.14 0.144 0.150559 0.169 0.122 0.1066 0.1362 0.2117 0.17 0.13 0.12 0.13 0.1556 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972457 NA NA 0.164302 0.153654 NA 0.152 NA 7.1777646 934 2 171242761 171242761 G A exonic MYO3B NA synonymous SNV MYO3B:NM_001083615:exon13:c.G1353A:p.Q451Q,MYO3B:NM_138995:exon13:c.G1353A:p.Q451Q exonic ENSG00000071909 NA synonymous SNV ENSG00000071909:ENST00000317935:exon13:c.G1353A:p.Q451Q,ENSG00000071909:ENST00000334231:exon13:c.G1380A:p.Q460Q,ENSG00000071909:ENST00000408978:exon13:c.G1353A:p.Q451Q,ENSG00000071909:ENST00000409044:exon13:c.G1353A:p.Q451Q,ENSG00000071909:ENST00000484338:exon13:c.G1380A:p.Q460Q Score=584;Name=lod=315 NA 2q31.1 Score=834;Name=V$NFY_C NA NA NA rs17497636 0.1 0.1 0.085 0.113618 0.162 0.0794 0.0965 0.0461 0.2025 0.17 0.05 0.11 0.03 0.1555 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065094 NA NA 0.171773 0.058415 NA 0.072 NA 7.1773936 934 19 55019371 55019371 C G exonic LAIR2 NA nonsynonymous SNV LAIR2:NM_002288:exon3:c.C336G:p.H112Q,LAIR2:NM_021270:exon3:c.C336G:p.H112Q exonic ENSG00000167618 NA nonsynonymous SNV ENSG00000167618:ENST00000301202:exon3:c.C336G:p.H112Q,ENSG00000167618:ENST00000351841:exon3:c.C336G:p.H112Q NA NA 19q13.42 NA NA NA NA rs61737870 0.09 0.09 0.07 0.0970447 0.0547 0.0079 0.0749 0.2405 0.0542 0.05 0.01 0.1 0.22 0.0543 0.22 . . 0.005 B 0.007 B 0.211 N 1.000 P 0.955 L 2.87 T -0.937 T 0.000 T 0.021 0.437 6.372 -1.47 -0.256 0.010 2.993 0.436742 NA 0.44 0.047093 0.219246 NA 0.065 NA 7.1772404 934 18 21148863 21148863 A G exonic NPC1 NA synonymous SNV NPC1:NM_000271:exon4:c.T387C:p.Y129Y exonic ENSG00000141458 NA synonymous SNV ENSG00000141458:ENST00000269228:exon4:c.T387C:p.Y129Y NA NA 18q11.2 NA NA Name=15 NA rs12970899 0.1 0.1 0.094 0.109824 0.1779 0.0268 0.1009 0.0537 0.2076 0.18 0.01 0.13 0.06 0.1444 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943932 NA NA 0.167326 0.081026 NA 0.058 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117827.2;CLNDSDB=.;CLNDSDBID=. 7.1770406 934 15 52611451 52611451 A G exonic MYO5A NA synonymous SNV MYO5A:NM_001142495:exon37:c.T4884C:p.D1628D,MYO5A:NM_000259:exon38:c.T4965C:p.D1655D exonic ENSG00000197535 NA synonymous SNV ENSG00000197535:ENST00000399229:exon9:c.T1155C:p.D385D,ENSG00000197535:ENST00000356338:exon37:c.T4884C:p.D1628D,ENSG00000197535:ENST00000399233:exon37:c.T4956C:p.D1652D,ENSG00000197535:ENST00000399231:exon38:c.T4965C:p.D1655D,ENSG00000197535:ENST00000553916:exon38:c.T4959C:p.D1653D,ENSG00000197535:ENST00000358212:exon39:c.T5040C:p.D1680D NA NA 15q21.2 NA Name=Pol2 Name=4 NA rs2290332 0.29 0.29 0.276 0.328674 0.1163 0.5774 0.2939 0.2867 0.3722 0.13 0.54 0.24 0.28 0.2259 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.097069 NA NA 0.148049 0.250805 NA 0.275 NA 7.1764176 934 22 20131115 20131115 C T exonic ZDHHC8 NA synonymous SNV ZDHHC8:NM_001185024:exon10:c.C1962T:p.N654N,ZDHHC8:NM_013373:exon10:c.C1962T:p.N654N exonic ENSG00000099904 NA synonymous SNV ENSG00000099904:ENST00000320602:exon8:c.C1686T:p.N562N,ENSG00000099904:ENST00000334554:exon10:c.C1962T:p.N654N,ENSG00000099904:ENST00000405930:exon10:c.C1962T:p.N654N Score=525;Name=lod=181 NA 22q11.21 Score=796;Name=V$OLF1_01 NA NA NA rs9605069 0.08 0.08 0.07 0.0830671 0.168 0.004 0.1037 0.0045 0.1687 0.16 0.0035 0.12 0.01 0.1464 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833604 NA NA 0.176334 0.030234 NA 0.029 NA 7.1759326 934 15 58860963 58860963 C A exonic LIPC NA synonymous SNV LIPC:NM_000236:exon9:c.C1437A:p.T479T exonic ENSG00000166035 NA synonymous SNV ENSG00000166035:ENST00000433326:exon8:c.C1254A:p.T418T,ENSG00000166035:ENST00000299022:exon9:c.C1437A:p.T479T,ENSG00000166035:ENST00000356113:exon11:c.C1437A:p.T479T Score=456;Name=lod=95 NA 15q21.3 Score=895;Name=V$CP2_01 NA NA NA rs6074 0.17 0.17 0.151 0.201478 0.1561 0.249 0.196 0.0817 0.365 0.17 0.26 0.16 0.09 0.1927 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123206 NA NA 0.142125 0.09854 NA 0.116 NA 7.1757416 934 2 209007559 209007559 T G exonic CRYGB NA nonsynonymous SNV CRYGB:NM_005210:exon3:c.A331C:p.I111L exonic ENSG00000182187 NA nonsynonymous SNV ENSG00000182187:ENST00000260988:exon3:c.A331C:p.I111L Score=449;Name=lod=89 NA 2q34 NA NA Name=5 NA rs796287 0.63 0.63 0.644 0.644569 0.7326 0.5952 0.5447 0.6203 0.7086 0.72 0.55 0.57 0.65 0.6885 0.74 0.06 T 0.0 B 0.0 B 0.031 N 1.000 P -0.77 N -0.95 T -0.932 T 0.000 T 0.019 1.474 10.87 0.468 -0.247 0.827 9.465 1.474126 1.474126 0.1 0.736512 0.675897 NA 0.688 NA 7.1757214 934 17 21319272 21319272 C T exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.C618T:p.D206D,KCNJ12:NM_021012:exon3:c.C618T:p.D206D exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.C618T:p.D206D,ENSG00000184185:ENST00000583088:exon3:c.C618T:p.D206D Score=591;Name=lod=336 NA 17p11.2 Score=913;Name=V$CREB_01 NA NA NA rs73313926 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4916 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058828 NA NA NA NA NA 0.159 NA 7.1750666 935 7 5347914 5347914 G A exonic TNRC18 NA synonymous SNV TNRC18:NM_001080495:exon30:c.C8730T:p.D2910D exonic ENSG00000182095 NA synonymous SNV ENSG00000182095:ENST00000399537:exon30:c.C8730T:p.D2910D,ENSG00000182095:ENST00000430969:exon30:c.C8730T:p.D2910D Score=702;Name=lod=949 NA 7p22.1 Score=878;Name=V$MYCMAX_02 NA NA NA rs11554710 0.14 0.14 0.108 0.103035 0.1521 0.0982 0.1758 0.0477 0.0808 0.16 0.13 0.2 0.06 0.1662 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316541 NA NA 0.17337 0.060584 ID=COSM150228,COSM1451422;OCCURENCE=1(stomach),1(large_intestine) 0.087 NA 7.1749966 935 7 73470714 73470714 G A exonic ELN NA nonsynonymous SNV ELN:NM_001081752:exon19:c.G1234A:p.G412S,ELN:NM_000501:exon20:c.G1264A:p.G422S,ELN:NM_001081753:exon20:c.G1279A:p.G427S,ELN:NM_001081754:exon20:c.G1279A:p.G427S,ELN:NM_001081755:exon20:c.G1264A:p.G422S exonic ENSG00000049540 NA nonsynonymous SNV ENSG00000049540:ENST00000380553:exon14:c.G913A:p.G305S,ENSG00000049540:ENST00000380575:exon19:c.G1234A:p.G412S,ENSG00000049540:ENST00000380584:exon19:c.G1222A:p.G408S,ENSG00000049540:ENST00000414324:exon19:c.G1249A:p.G417S,ENSG00000049540:ENST00000458204:exon19:c.G1234A:p.G412S,ENSG00000049540:ENST00000252034:exon20:c.G1264A:p.G422S,ENSG00000049540:ENST00000320399:exon20:c.G1264A:p.G422S,ENSG00000049540:ENST00000357036:exon20:c.G1279A:p.G427S,ENSG00000049540:ENST00000358929:exon20:c.G1264A:p.G422S,ENSG00000049540:ENST00000380562:exon20:c.G1264A:p.G422S,ENSG00000049540:ENST00000380576:exon20:c.G1264A:p.G422S,ENSG00000049540:ENST00000429192:exon20:c.G1279A:p.G427S,ENSG00000049540:ENST00000445912:exon20:c.G1264A:p.G422S NA NA 7q11.23 NA NA NA NA rs2071307 0.26 0.26 0.243 0.220447 0.4205 0.1081 0.2464 0.1339 0.229 0.39 0.14 0.3 0.15 0.3262 0.41 0.09 T 0.012 B 0.002 B . . 1.000 P . . 1.38 T -0.976 T 0.000 T 0.064 1.344 10.41 1.2 -0.267 0.532 7.391 1.343509 1.343509 0.31 0.412907 0.176804 ID=COSM150313;OCCURENCE=1(stomach) 0.232 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036524.1;CLNDSDB=.;CLNDSDBID=. 7.1737264 935 17 78171944 78171944 G C exonic CARD14 NA nonsynonymous SNV CARD14:NM_052819:exon9:c.G930C:p.R310S,CARD14:NM_001257970:exon12:c.G1641C:p.R547S,CARD14:NM_024110:exon12:c.G1641C:p.R547S exonic ENSG00000141527 NA nonsynonymous SNV ENSG00000141527:ENST00000392434:exon9:c.G930C:p.R310S,ENSG00000141527:ENST00000344227:exon12:c.G1641C:p.R547S,ENSG00000141527:ENST00000570421:exon12:c.G1641C:p.R547S,ENSG00000141527:ENST00000573882:exon14:c.G1641C:p.R547S NA NA 17q25.3 NA NA Name=15 NA rs2066964 0.39 0.39 0.41 0.370208 0.4006 0.4554 0.2435 0.3079 0.4254 0.4 0.51 0.27 0.32 0.3772 0.51 0.9 T 0.001 B 0.0 B 0.839 N 1.000 P -1.5 N 2.46 T -0.922 T 0.000 T 0.326 -1.788 0.01 0.71 -0.043 0.149 6.680 -1.787786 NA 0.84 0.382791 0.312982 ID=COSM1387026,COSM1387027;OCCURENCE=1(large_intestine) 0.442 NA 7.1727424 935 20 61460124 61460124 G A exonic COL9A3 NA synonymous SNV COL9A3:NM_001853:exon18:c.G909A:p.P303P exonic ENSG00000092758 NA synonymous SNV ENSG00000092758:ENST00000343916:exon18:c.G909A:p.P303P Score=463;Name=lod=102 NA 20q13.33 Score=982;Name=V$P53_02 NA NA NA rs2249903 0.1 0.1 0.092 0.0842652 0.1889 0.0308 0.1167 0.0363 0.0736 0.19 0.03 0.14 0.04 0.1316 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821465 NA NA 0.175273 0.062699 NA 0.058 NA 7.1708936 935 2 152322095 152322095 A T exonic RIF1 NA nonsynonymous SNV RIF1:NM_001177665:exon29:c.A6061T:p.N2021Y,RIF1:NM_001177663:exon30:c.A6061T:p.N2021Y,RIF1:NM_001177664:exon30:c.A6061T:p.N2021Y,RIF1:NM_018151:exon30:c.A6061T:p.N2021Y exonic ENSG00000080345 NA nonsynonymous SNV ENSG00000080345:ENST00000243326:exon29:c.A6061T:p.N2021Y,ENSG00000080345:ENST00000430328:exon29:c.A6061T:p.N2021Y,ENSG00000080345:ENST00000428287:exon30:c.A6061T:p.N2021Y,ENSG00000080345:ENST00000444746:exon30:c.A6061T:p.N2021Y,ENSG00000080345:ENST00000453091:exon30:c.A6061T:p.N2021Y NA NA 2q23.3 NA NA NA NA rs2444257 0.72 0.72 0.704 0.659545 0.7276 0.7619 0.7392 0.5802 0.5348 0.72 0.8 0.75 0.63 0.7067 0.8 0.41 T 0.0 B 0.0 B 0.036 N 1.000 P -0.345 N 3.02 T -1.008 T 0.000 T 0.261 -1.34 0.03 -2.42 -0.792 -1.094 1.284 -1.339846 NA 1 0.728953 0.593736 NA 0.783 NA 7.1700804 935 1 43886494 43886494 C T exonic SZT2 NA nonsynonymous SNV SZT2:NM_015284:exon10:c.C1336T:p.P446S exonic ENSG00000198198 NA nonsynonymous SNV ENSG00000198198:ENST00000562955:exon10:c.C1336T:p.P446S Score=454;Name=lod=93 NA 1p34.2 Score=843;Name=V$RFX1_02 NA NA NA rs2782643 0.26 0.26 0.237 0.198083 0.4205 0.0823 0.379 0.0998 0.093 0.42 0.08 0.41 0.12 0.3191 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.046621 3.046621 NA 0.423656 0.146119 NA 0.333 NA 7.1700774 935 1 183616926 183616926 T C exonic APOBEC4 NA nonsynonymous SNV APOBEC4:NM_203454:exon2:c.A991G:p.K331E exonic ENSG00000173627 NA nonsynonymous SNV ENSG00000173627:ENST00000308641:exon2:c.A991G:p.K331E NA NA 1q25.3 NA NA Name=3 NA rs1174657 0.36 0.36 0.352 0.370208 0.4006 0.244 0.3473 0.4932 0.319 0.4 0.19 0.39 0.48 0.3679 0.48 0.84 T 0.0 B 0.001 B 0.753 N 1.000 P 0.895 L 2.59 T -0.922 T 0.000 T 0.016 -1.279 0.043 -0.467 -0.238 0.073 6.984 -1.278574 NA NA 0.395465 0.46936 NA 0.42 NA 7.1693684 935 12 80014907 80014907 A T exonic PAWR NA synonymous SNV PAWR:NM_002583:exon3:c.T597A:p.I199I exonic ENSG00000177425 NA synonymous SNV ENSG00000177425:ENST00000328827:exon3:c.T597A:p.I199I Score=423;Name=lod=70 NA 12q21.2 NA NA NA NA rs2307223 NA NA 0.374 0.516773 0.8171 0.5139 0.7363 0.1475 0.5542 NA NA NA NA 0.6951 0.99 . . . . . . . . 1.000 D . . . . -0.983 T 0.000 T . -1.711 0.011 4.62 0.798 0.076 5.551 -1.710624 NA NA 0.985116 0.34453 NA 0.514 NA 7.1693506 935 12 6715593 6715593 A G UTR5 CHD4 NM_001273:c.-54T>C NA NA UTR5 ENSG00000111642 ENST00000357008:c.-54T>C,ENST00000309577:c.-54T>C,ENST00000544040:c.-54T>C,ENST00000544484:c.-54T>C,ENST00000545942:c.-54T>C,ENST00000545584:c.-54T>C NA NA Score=623;Name=lod=453 NA 12p13.31 NA Name=Pol2,GR,Egr-1,Sin3Ak-20 Name=88 NA rs1734116 0.29 0.29 0.31 0.319489 0.164 0.2927 0.1499 0.6067 0.2393 0.17 0.3 0.15 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.471796 1.471796 NA NA NA NA 0.21 NA 7.1693334 935 20 25288632 25288632 G A exonic ABHD12 NA synonymous SNV ABHD12:NM_001042472:exon9:c.C837T:p.R279R,ABHD12:NM_015600:exon9:c.C837T:p.R279R exonic ENSG00000100997 NA synonymous SNV ENSG00000100997:ENST00000576316:exon3:c.C141T:p.R47R,ENSG00000100997:ENST00000339157:exon9:c.C837T:p.R279R,ENSG00000100997:ENST00000376542:exon9:c.C837T:p.R279R,ENSG00000100997:ENST00000491682:exon9:c.C366T:p.R122R NA NA 20p11.21 NA Name=PU.1 Name=5 NA rs6107027 0.33 0.33 0.291 0.336062 0.5089 0.0228 0.5836 0.211 0.4744 0.51 0.02 0.57 0.23 0.4696 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109086 NA NA 0.519767 0.268498 NA 0.442 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116215.2;CLNDSDB=.;CLNDSDBID=. 7.1683996 935 12 112431212 112431212 T C intronic TMEM116 NA NA NA ncRNA_exonic ENSG00000258373 NA NA NA Score=674;Name=lod=732 NA 12q24.13 NA Name=FOXA1_(C-20),p300,GATA3_(SC-268),GATA-1 Name=3 NA rs57646770 0.23 0.23 0.227 0.229034 0.165 0.2708 0.1398 0.3275 0.182 0.16 0.27 0.16 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441949 1.441949 NA NA NA NA 0.283 NA 7.1683333 935 11 60785463 60785463 C T exonic CD6 NA synonymous SNV CD6:NM_001254750:exon10:c.C1719T:p.A573A,CD6:NM_001254751:exon10:c.C1692T:p.A564A,CD6:NM_006725:exon11:c.C1815T:p.A605A exonic ENSG00000013725 NA synonymous SNV ENSG00000013725:ENST00000346437:exon9:c.C1596T:p.A532A,ENSG00000013725:ENST00000344028:exon10:c.C1719T:p.A573A,ENSG00000013725:ENST00000352009:exon10:c.C1719T:p.A573A,ENSG00000013725:ENST00000452451:exon10:c.C1692T:p.A564A,ENSG00000013725:ENST00000313421:exon11:c.C1815T:p.A605A Score=361;Name=lod=39 NA 11q12.2 Score=738;Name=V$MYOGNF1_01 NA NA NA rs12417503 0.11 0.11 0.087 0.0890575 0.1958 0.001 0.1239 0.0832 0.0532 0.2 0.0017 0.14 0.08 0.136 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147163 NA NA 0.166667 0.096635 NA 0.167 NA 7.1681996 935 8 39873053 39873053 G A exonic IDO2 NA nonsynonymous SNV IDO2:NM_194294:exon11:c.G1195A:p.A399T exonic ENSG00000188676 NA nonsynonymous SNV ENSG00000188676:ENST00000389060:exon10:c.G1156A:p.A386T,ENSG00000188676:ENST00000502986:exon11:c.G1195A:p.A399T NA NA 8p11.21 NA NA NA NA rs72632016 0.08 0.08 0.079 0.0804712 0.0527 0.0119 0.0634 0.1884 0.046 0.05 0.02 0.07 0.19 0.0605 0.19 . . 0.025 B 0.008 B 0.348 N 1.000 P 1.83 L 0.88 T -1.046 T 0.000 T 0.045 -0.356 2.319 1.1 -0.080 -0.312 1.115 -0.355979 NA NA 0.05194 0.181218 NA 0.109 NA 7.1681934 935 17 21318897 21318897 G C exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.G243C:p.R81R,KCNJ12:NM_021012:exon3:c.G243C:p.R81R exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G243C:p.R81R,ENSG00000184185:ENST00000583088:exon3:c.G243C:p.R81R Score=565;Name=lod=263 NA 17p11.2 NA Name=NRSF NA NA rs1657739 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4993 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559538 NA NA NA NA NA 0.188 NA 7.1673666 935 6 57467093 57467093 A G exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA nonsynonymous SNV ENSG00000146143:ENST00000607273:exon11:c.A1034G:p.Y345C Score=531;Name=lod=191 NA 6p11.2 Score=777;Name=V$MEF2_01 NA NA NA rs9885916 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4994 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.212181 2.212181 NA NA NA ID=COSM150113;OCCURENCE=1(stomach) 0.449 NA 7.1672667 935 2 238267717 238267717 C T exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon17:c.G4548A:p.L1516L,COL6A3:NM_057167:exon19:c.G5751A:p.L1917L,COL6A3:NM_004369:exon20:c.G6369A:p.L2123L exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon17:c.G4548A:p.L1516L,ENSG00000163359:ENST00000409809:exon18:c.G5751A:p.L1917L,ENSG00000163359:ENST00000346358:exon19:c.G5769A:p.L1923L,ENSG00000163359:ENST00000347401:exon19:c.G5766A:p.L1922L,ENSG00000163359:ENST00000353578:exon19:c.G5751A:p.L1917L,ENSG00000163359:ENST00000295550:exon20:c.G6369A:p.L2123L Score=284;Name=lod=19 NA 2q37.3 NA NA NA NA rs2646254 0.3 0.3 0.304 0.330871 0.1511 0.3522 0.2507 0.5416 0.2658 0.14 0.33 0.24 0.53 0.2129 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788991 NA NA 0.135814 0.470495 NA 0.333 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080967.2;CLNDSDB=.;CLNDSDBID=. 7.1668526 935 17 21216846 21216846 G C exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon11:c.G870C:p.L290L,MAP2K3:NM_145109:exon11:c.G957C:p.L319L exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000527123:exon2:c.G183C:p.L61L,ENSG00000034152:ENST00000342679:exon11:c.G957C:p.L319L,ENSG00000034152:ENST00000361818:exon11:c.G870C:p.L290L,ENSG00000034152:ENST00000316920:exon12:c.G870C:p.L290L Score=527;Name=lod=184 NA 17p11.2 Score=947;Name=V$GATA1_01 NA NA NA rs1657688 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778914 NA NA NA NA ID=COSM291821;OCCURENCE=1(large_intestine) 0.5 NA 7.1667666 935 20 31656632 31656632 C G exonic BPIFB3 NA nonsynonymous SNV BPIFB3:NM_182658:exon10:c.C1002G:p.H334Q exonic ENSG00000186190 NA nonsynonymous SNV ENSG00000186190:ENST00000375494:exon10:c.C1002G:p.H334Q NA NA 20q11.21 NA NA NA NA rs6057717 0.48 0.48 0.464 0.482029 0.3837 0.7698 0.4741 0.3086 0.5266 0.38 0.77 0.44 0.33 0.4197 0.77 0.58 T 0.155 B 0.107 B 0.087 N 1.000 P 0.69 N 3.12 T -1.005 T 0.000 T 0.047 -0.364 2.285 2.26 0.519 0.094 6.123 -0.363791 NA 0.2 0.363256 0.296641 ID=COSM443651;OCCURENCE=1(breast) 0.42 NA 7.1666774 935 6 57244780 57244780 G A exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA nonsynonymous SNV ENSG00000146143:ENST00000607273:exon6:c.G541A:p.E181K Score=395;Name=lod=54 NA 6p11.2 Score=766;Name=V$PAX4_04 NA NA NA rs5011403 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.156905 2.156905 0.76 NA NA NA 0.493 NA 7.1666667 935 6 57467175 57467175 A G exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*75A>G NA NA Score=645;Name=lod=556 NA 6p11.2 Score=843;Name=V$EVI1_04 NA Name=40 NA rs4406234 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.283696 1.283696 NA NA NA NA 0.464 NA 7.1666667 935 19 49535393 49535393 G C intronic CGB2 NA NA NA UTR5 ENSG00000104818 ENST00000474913:c.-395G>C NA NA NA NA 19q13.33 Score=876;Name=V$YY1_01 Name=CTCF,NF-YB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176988 NA NA NA NA NA NA NA 7.1666667 935 1 144873887 144873887 C T exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001198834:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_014644:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_001198832:exon34:c.G4938A:p.Q1646Q exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000369354:exon31:c.G5070A:p.Q1690Q,ENSG00000178104:ENST00000369356:exon31:c.G5070A:p.Q1690Q,ENSG00000178104:ENST00000313382:exon34:c.G4938A:p.Q1646Q,ENSG00000178104:ENST00000369359:exon34:c.G5478A:p.Q1826Q Score=435;Name=lod=78 NA 1q21.1 Score=687;Name=V$PPARG_02 NA NA NA rs1699787 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867924 NA NA NA NA NA 0.5 NA 7.1666666 935 1 145075854 145075854 G C exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_022359:exon1:c.C9G:p.G3G exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000369345:exon1:c.C9G:p.G3G,ENSG00000178104:ENST00000369348:exon1:c.C9G:p.G3G,ENSG00000178104:ENST00000369359:exon1:c.C9G:p.G3G,ENSG00000178104:ENST00000526359:exon1:c.C9G:p.G3G,ENSG00000178104:ENST00000528661:exon1:c.C9G:p.G3G,ENSG00000178104:ENST00000530740:exon1:c.C9G:p.G3G NA NA 1q21.1 NA Name=TBP,ZNF274,SUZ12,CCNT2,CtBP2,ZNF263,Pol2 Name=117 NA rs1663853 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.51 0.5 0.5 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896611 NA NA NA NA NA 0.493 NA 7.1666666 935 11 48346924 48346924 T C exonic OR4C3 NA synonymous SNV OR4C3:NM_001004702:exon1:c.T432C:p.A144A exonic ENSG00000176547 NA synonymous SNV ENSG00000176547:ENST00000319856:exon1:c.T432C:p.A144A Score=557;Name=lod=244 NA 11p11.2 Score=740;Name=V$PPARG_01 NA NA NA rs72911454 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56584 NA NA NA NA NA 0.232 NA 7.1666666 935 11 56467881 56467881 T C exonic OR9G1,OR9G9 NA synonymous SNV OR9G1:NM_001005213:exon1:c.T18C:p.H6H,OR9G9:NM_001013358:exon1:c.T18C:p.H6H exonic ENSG00000174914 NA synonymous SNV ENSG00000174914:ENST00000312153:exon1:c.T18C:p.H6H Score=366;Name=lod=41 NA 11q12.1 NA NA Name=14 NA rs73474900 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.5 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373379 NA NA NA NA NA 0.442 NA 7.1666666 935 17 21319302 21319302 T C exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.T648C:p.G216G,KCNJ12:NM_021012:exon3:c.T648C:p.G216G exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.T648C:p.G216G,ENSG00000184185:ENST00000583088:exon3:c.T648C:p.G216G Score=591;Name=lod=336 NA 17p11.2 Score=878;Name=V$CEBPA_01 NA NA NA rs1657743 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5001 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847937 NA NA NA NA NA 0.442 NA 7.1665666 935 10 124742858 124742858 G A exonic PSTK NA synonymous SNV PSTK:NM_153336:exon3:c.G579A:p.R193R exonic ENSG00000179988 NA synonymous SNV ENSG00000179988:ENST00000368887:exon3:c.G579A:p.R193R,ENSG00000179988:ENST00000405485:exon3:c.G579A:p.R193R NA NA 10q26.13 NA NA NA NA rs45498396 0.12 0.12 0.109 0.11242 0.1869 0.0099 0.1254 0.1785 0.0429 0.18 0.01 0.15 0.14 0.1327 0.18 . . . . . . . . 0.000 P . . . . -0.997 T 0.001 T . 0.57 7.08 -2.41 -0.708 0.213 15.141 0.569992 NA NA 0.181047 0.147072 NA 0.174 NA 7.1660196 935 22 42017901 42017901 C G intronic XRCC6 NA NA NA UTR5 ENSG00000196419 ENST00000359308:c.-108C>G NA NA NA NA 22q13.2 NA Name=Pol2-4H8,HA-E2F1,POU2F2,SP1,Oct-2 Name=108 NA NA NA NA NA 0.000599042 0.001 NA 0.0014 NA 0.001 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.307913 1.307913 NA NA NA NA 0.007 NA 7.1656667 936 7 24742436 24742436 T C exonic DFNA5 NA synonymous SNV DFNA5:NM_001127454:exon8:c.A708G:p.A236A,DFNA5:NM_001127453:exon9:c.A1200G:p.A400A,DFNA5:NM_004403:exon9:c.A1200G:p.A400A exonic ENSG00000105928 NA synonymous SNV ENSG00000105928:ENST00000430096:exon2:c.A60G:p.A20A,ENSG00000105928:ENST00000409970:exon8:c.A708G:p.A236A,ENSG00000105928:ENST00000419307:exon8:c.A708G:p.A236A,ENSG00000105928:ENST00000342947:exon9:c.A1200G:p.A400A,ENSG00000105928:ENST00000409775:exon9:c.A1200G:p.A400A,ENSG00000105928:ENST00000545231:exon11:c.A708G:p.A236A NA NA 7p15.3 Score=923;Name=V$GATA1_04 NA NA NA rs17149912 0.2 0.2 0.166 0.201877 0.1501 0.2798 0.2637 0.1384 0.2168 0.17 0.27 0.26 0.14 0.1961 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260989 NA NA 0.15593 0.132547 ID=COSM150252;OCCURENCE=1(stomach) 0.109 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037971.1;CLNDSDB=.;CLNDSDBID=. 7.1645366 936 9 77257346 77257346 G A exonic RORB NA synonymous SNV RORB:NM_006914:exon4:c.G252A:p.R84R exonic ENSG00000198963 NA synonymous SNV ENSG00000198963:ENST00000376896:exon4:c.G252A:p.R84R,ENSG00000198963:ENST00000396204:exon4:c.G285A:p.R95R Score=605;Name=lod=385 NA 9q21.13 Score=979;Name=V$LYF1_01 NA NA NA rs2273975 0.12 0.12 0.104 0.0950479 0.166 0.0873 0.1556 0.0371 0.0654 0.16 0.12 0.14 0.05 0.1582 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004734 NA NA 0.178488 0.050613 NA 0.087 NA 7.1639786 936 19 53077411 53077411 T C exonic ZNF701 NA nonsynonymous SNV ZNF701:NM_018260:exon2:c.T11C:p.L4P,ZNF701:NM_001172655:exon3:c.T209C:p.L70P exonic ENSG00000167562 NA nonsynonymous SNV ENSG00000167562:ENST00000391785:exon2:c.T11C:p.L4P,ENSG00000167562:ENST00000301093:exon3:c.T209C:p.L70P,ENSG00000167562:ENST00000540331:exon3:c.T209C:p.L70P,ENSG00000167562:ENST00000593941:exon3:c.T209C:p.L70P,ENSG00000167562:ENST00000596514:exon4:c.T230C:p.L77P NA NA 19q13.41 NA NA NA NA rs162832 0.62 0.62 0.689 0.714457 0.7227 0.4276 0.6758 0.9433 0.7198 0.66 0.41 0.65 0.81 0.7184 0.91 . . 0.0 B 0.0 B . . 1.000 P -0.345 N 5.65 T -1.079 T 0.000 T 0.105 0.053 4.288 -2.36 -1.123 -0.042 3.463 0.05259 NA 0.31 0.728309 0.905583 NA 0.746 NA 7.1639244 936 1 219347143 219347143 G A upstream LOC643723,LYPLAL1 NA NA NA ncRNA_exonic ENSG00000228063 NA NA NA NA NA 1q41 NA Name=Pol2-4H8,USF1_(SC-8983),E2F6,eGFP-JunD,IRF4_(M-17),Pbx3,Sin3Ak-20,HA-E2F1,YY1_(C-20),Egr-1,YY1,STAT3,Pol2(phosphoS2),SP1,NRSF,PU.1,Pol2,HMGN3,POU2F2,E2F4,FOXA1_(C-20),E2F6_(H-50),TAF1,GATA-1,Pol2(b),GTF2F1_(RAP-74),IRF1,TBP,USF-1,Nrf1,EBF1_(C-8),Oct-2,PAX5-N19,PAX5-C20,NFKB,HEY1,ELF1_(SC-631),c-Myc,CCNT2,Max Name=147 NA NA NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.814591 NA NA NA NA NA 0.051 NA 7.1636666 936 11 92573911 92573911 G T exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon17:c.G10552T:p.V3518L exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000298047:exon17:c.G10552T:p.V3518L,ENSG00000165323:ENST00000409404:exon17:c.G10552T:p.V3518L,ENSG00000165323:ENST00000525166:exon17:c.G10102T:p.V3368L NA NA 11q14.3 NA NA NA NA rs10765565 0.3 0.3 0.268 0.323482 0.3976 0.2163 0.3386 0.202 0.5112 0.4 0.22 0.35 0.2 0.374 0.4 0.95 T 0.001 B 0.006 B . . 0.000 P 0.525 N 0.62 T -0.955 T 0.000 T 0.103 -0.68 1.037 0.41 -0.174 1.265 6.807 -0.679977 NA 1 0.40057 0.218675 NA 0.326 NA 7.1611634 936 9 113459655 113459655 C T exonic MUSK NA synonymous SNV MUSK:NM_001166280:exon5:c.C537T:p.N179N,MUSK:NM_001166281:exon5:c.C537T:p.N179N,MUSK:NM_005592:exon5:c.C537T:p.N179N exonic ENSG00000030304 NA synonymous SNV ENSG00000030304:ENST00000374439:exon3:c.C183T:p.N61N,ENSG00000030304:ENST00000189978:exon5:c.C537T:p.N179N,ENSG00000030304:ENST00000374440:exon5:c.C183T:p.N61N,ENSG00000030304:ENST00000374448:exon5:c.C537T:p.N179N,ENSG00000030304:ENST00000416899:exon5:c.C537T:p.N179N Score=620;Name=lod=443 NA 9q31.3 NA NA NA NA rs41279051 0.13 0.13 0.122 0.122005 0.171 0.1974 0.072 0.0068 0.1851 0.18 0.19 0.1 0.01 0.1615 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.054894 NA NA 0.173225 0.035417 ID=COSM43011;OCCURENCE=1(stomach),1(kidney),3(central_nervous_system) 0.145 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117649.1;CLNDSDB=.;CLNDSDBID=. 7.1609416 936 7 142045802 142045802 T C intergenic LOC730441,MTRNR2L6 dist=73734;dist=328329 NA NA exonic ENSG00000211745 NA synonymous SNV ENSG00000211745:ENST00000390392:exon2:c.T330C:p.C110C Score=272;Name=lod=17 NA 7q34 Score=886;Name=V$NF1_Q6 NA Name=2 NA rs2855871 NA NA 0.186 NA NA NA NA NA NA NA NA NA NA 0.3392 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275339 NA NA NA NA NA 0.101 NA 7.1608 936 17 48768486 48768486 A G exonic ABCC3 NA synonymous SNV ABCC3:NM_003786:exon31:c.A4509G:p.E1503E exonic ENSG00000108846 NA synonymous SNV ENSG00000108846:ENST00000285238:exon31:c.A4509G:p.E1503E Score=471;Name=lod=109 NA 17q21.33 Score=877;Name=V$OCT1_06 NA NA NA rs1051640 0.11 0.11 0.089 0.104034 0.1829 0.0417 0.1095 0.09 0.1022 0.18 0.03 0.13 0.09 0.1461 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102331 NA NA 0.178256 0.084203 NA 0.072 NA 7.1594106 936 2 69709919 69709919 A G exonic AAK1 NA synonymous SNV AAK1:NM_014911:exon18:c.T2391C:p.S797S exonic ENSG00000115977 NA synonymous SNV ENSG00000115977:ENST00000406297:exon18:c.T2391C:p.S797S,ENSG00000115977:ENST00000409085:exon18:c.T2391C:p.S797S Score=639;Name=lod=525 NA 2p13.3 NA NA Name=13 NA rs6721259 0.13 0.13 0.129 0.142772 0.1938 0.0407 0.1023 0.2141 0.1278 0.19 0.02 0.12 0.19 0.143 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370207 1.370207 NA 0.170578 0.184266 NA 0.13 NA 7.1592886 936 19 4101062 4101062 G T exonic MAP2K2 NA synonymous SNV MAP2K2:NM_030662:exon6:c.C660A:p.I220I exonic ENSG00000126934 NA synonymous SNV ENSG00000126934:ENST00000262948:exon6:c.C660A:p.I220I,ENSG00000126934:ENST00000394867:exon7:c.C369A:p.I123I Score=657;Name=lod=626 NA 19p13.3 Score=868;Name=V$ZID_01 NA NA NA rs10250 0.47 0.47 0.4 0.433307 0.4761 0.625 0.5562 0.2443 0.3599 0.46 0.6 0.56 0.26 0.5472 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.397478 1.397478 NA 0.484979 0.287142 ID=COSM1481088,COSM439538;OCCURENCE=1(breast) 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039490.1;CLNDSDB=.;CLNDSDBID=. 7.1583876 936 1 46827485 46827485 C T exonic NSUN4 NA synonymous SNV NSUN4:NM_001256127:exon6:c.C975T:p.P325P,NSUN4:NM_001256128:exon6:c.C975T:p.P325P,NSUN4:NM_199044:exon6:c.C1122T:p.P374P exonic ENSG00000117481 NA synonymous SNV ENSG00000117481:ENST00000474844:exon6:c.C1122T:p.P374P,ENSG00000117481:ENST00000537428:exon6:c.C975T:p.P325P,ENSG00000117481:ENST00000536062:exon7:c.C975T:p.P325P Score=512;Name=lod=160 NA 1p33 Score=733;Name=V$SRF_01 NA NA NA rs1053624 0.16 0.16 0.149 NA NA NA NA NA NA 0.27 0.02 0.17 0.14 0.2186 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570342 NA NA 0.289884 0.152519 NA 0.21 NA 7.1581826 936 17 1686410 1686410 T C exonic SMYD4 NA nonsynonymous SNV SMYD4:NM_052928:exon10:c.A2180G:p.Y727C exonic ENSG00000186532 NA nonsynonymous SNV ENSG00000186532:ENST00000491788:exon6:c.A1592G:p.Y531C,ENSG00000186532:ENST00000305513:exon10:c.A2180G:p.Y727C NA NA 17p13.3 NA NA NA NA rs9902398 0.79 0.79 0.814 0.776757 0.7386 0.7758 0.7565 0.9198 0.638 0.76 0.78 0.71 0.92 0.7293 0.92 0.15 T 0.037 B 0.004 B 0.070 N 1.000 P 0 N -0.01 T -0.910 T 0.000 T 0.094 0.226 5.222 -11.7 -2.928 -3.368 12.581 0.226433 NA 0.18 0.707558 0.890831 NA 0.732 NA 7.1578754 936 17 17168164 17168164 G A exonic COPS3 NA synonymous SNV COPS3:NM_001199125:exon6:c.C513T:p.I171I,COPS3:NM_003653:exon6:c.C573T:p.I191I exonic ENSG00000141030 NA synonymous SNV ENSG00000141030:ENST00000268717:exon6:c.C573T:p.I191I,ENSG00000141030:ENST00000417352:exon6:c.C573T:p.I191I,ENSG00000141030:ENST00000439936:exon6:c.C513T:p.I171I,ENSG00000141030:ENST00000539941:exon6:c.C513T:p.I171I Score=656;Name=lod=616 NA 17p11.2 Score=827;Name=V$CDP_02 Name=ZNF263 NA NA rs3182911 0.51 0.51 0.462 0.486222 0.5119 0.6558 0.5317 0.3215 0.4755 0.53 0.65 0.5 0.33 0.498 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.028595 NA NA 0.49907 0.325919 NA 0.464 NA 7.1576966 936 16 1538363 1538363 C A exonic PTX4 NA nonsynonymous SNV PTX4:NM_001013658:exon1:c.G106T:p.G36C exonic ENSG00000251692 NA nonsynonymous SNV ENSG00000251692:ENST00000293922:exon1:c.G106T:p.G36C NA NA 16p13.3 NA NA Name=5 NA rs1040499 0.5 0.5 0.548 0.499601 0.3897 0.5119 0.3242 0.7534 0.3814 0.41 0.55 0.32 0.71 0.4071 0.71 0.14 T 0.0 B 0.0 B . . 1.000 P . . 3.13 T -1.058 T 0.000 T 0.039 0.536 6.903 -0.196 -0.511 -0.524 2.442 0.536146 NA 0.13 0.378953 0.6794 NA 0.594 NA 7.1575804 936 1 1021346 1021346 A G exonic C1orf159 NA synonymous SNV C1orf159:NM_017891:exon7:c.T357C:p.I119I exonic ENSG00000131591 NA synonymous SNV ENSG00000131591:ENST00000379320:exon5:c.T357C:p.I119I,ENSG00000131591:ENST00000294576:exon7:c.T357C:p.I119I,ENSG00000131591:ENST00000379319:exon7:c.T357C:p.I119I,ENSG00000131591:ENST00000379325:exon7:c.T357C:p.I119I,ENSG00000131591:ENST00000421241:exon7:c.T357C:p.I119I,ENSG00000131591:ENST00000434641:exon7:c.T357C:p.I119I,ENSG00000131591:ENST00000437760:exon7:c.T357C:p.I119I,ENSG00000131591:ENST00000448924:exon8:c.T465C:p.I155I,ENSG00000131591:ENST00000379339:exon9:c.T465C:p.I155I Score=459;Name=lod=98 NA 1p36.33 Score=706;Name=V$HOX13_01 NA NA NA rs10907177 0.17 0.17 0.189 0.178914 0.1809 0.122 0.1311 0.239 0.1881 0.16 0.13 0.13 0.25 0.1701 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097474 NA NA 0.158372 0.243305 NA 0.203 NA 7.1572946 936 19 37488481 37488481 G C exonic ZNF568 NA nonsynonymous SNV ZNF568:NM_001204839:exon9:c.G1696C:p.G566R,ZNF568:NM_001204838:exon10:c.G1888C:p.G630R exonic ENSG00000198453 NA nonsynonymous SNV ENSG00000198453:ENST00000455427:exon9:c.G1696C:p.G566R NA NA 19q13.12 NA NA NA NA rs1363753 0.52 0.52 0.488 0.552716 0.5239 0.2986 0.598 0.7186 0.5879 0.53 0.3 0.59 0.71 0.6522 0.71 . . 0.0 B 0.0 B . . 1.000 P -2.39 N 3.47 T -1.016 T 0.000 T 0.056 -0.705 0.955 1.64 0.082 -5.078 1.175 -0.705219 NA 1 NA NA NA 0.551 NA 7.1572334 936 9 78803512 78803512 C T exonic PCSK5 NA synonymous SNV PCSK5:NM_001190482:exon18:c.C2301T:p.C767C,PCSK5:NM_006200:exon18:c.C2301T:p.C767C exonic ENSG00000099139 NA synonymous SNV ENSG00000099139:ENST00000424854:exon11:c.C1320T:p.C440C,ENSG00000099139:ENST00000376752:exon18:c.C2301T:p.C767C,ENSG00000099139:ENST00000545128:exon18:c.C2301T:p.C767C Score=455;Name=lod=94 NA 9q21.13 Score=811;Name=V$GRE_C NA NA NA rs10521468 0.1 0.1 0.098 0.0870607 0.1849 NA 0.1326 0.0703 0.0665 0.18 NA 0.14 0.07 0.1426 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94766 NA NA 0.182791 0.093963 NA 0.072 NA 7.1563756 936 3 123665902 123665902 T G exonic CCDC14 NA nonsynonymous SNV CCDC14:NM_022757:exon7:c.A970C:p.T324P exonic ENSG00000175455 NA nonsynonymous SNV ENSG00000175455:ENST00000310351:exon4:c.A613C:p.T205P,ENSG00000175455:ENST00000485727:exon4:c.A493C:p.T165P,ENSG00000175455:ENST00000489746:exon4:c.A493C:p.T165P,ENSG00000175455:ENST00000426152:exon5:c.A271C:p.T91P,ENSG00000175455:ENST00000433542:exon7:c.A970C:p.T324P,ENSG00000175455:ENST00000409697:exon8:c.A1036C:p.T346P,ENSG00000175455:ENST00000488653:exon8:c.A1093C:p.T365P NA NA 3q21.1 NA NA NA NA rs17310144 0.32 0.32 0.29 0.298522 0.5676 0.1002 0.4035 0.0998 0.4202 0.56 0.08 0.47 0.11 0.4887 0.62 0.28 T 0.899 P 0.367 B 0.278 N 1.000 P 0.69 N 0.96 T -0.945 T 0.000 T 0.218 1.87 12.21 -2.21 -0.253 0.108 10.212 1.869719 1.869719 0.1 0.621512 0.189287 NA 0.326 NA 7.1555214 936 10 33214802 33214802 A G exonic ITGB1 NA synonymous SNV ITGB1:NM_033668:exon5:c.T783C:p.C261C,ITGB1:NM_002211:exon6:c.T783C:p.C261C,ITGB1:NM_133376:exon6:c.T783C:p.C261C exonic ENSG00000150093 NA synonymous SNV ENSG00000150093:ENST00000423113:exon5:c.T783C:p.C261C,ENSG00000150093:ENST00000302278:exon6:c.T783C:p.C261C,ENSG00000150093:ENST00000374956:exon6:c.T783C:p.C261C,ENSG00000150093:ENST00000396033:exon6:c.T783C:p.C261C Score=569;Name=lod=273 NA 10p11.22 Score=800;Name=V$CMYB_01 NA NA NA rs2298141 0.15 0.15 0.131 0.15655 0.172 0.245 0.1859 0.0401 0.1861 0.16 0.22 0.18 0.03 0.1636 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376437 1.376437 NA 0.175581 0.056741 NA 0.13 NA 7.1554856 936 18 14542648 14542648 C A exonic POTEC NA nonsynonymous SNV POTEC:NM_001137671:exon1:c.G498T:p.M166I exonic ENSG00000183206 NA nonsynonymous SNV ENSG00000183206:ENST00000358970:exon1:c.G498T:p.M166I,ENSG00000183206:ENST00000511306:exon1:c.G498T:p.M166I NA NA 18p11.21 NA NA NA NA rs12454500 0.17 0.17 0.13 0.161941 0.0358 0.4276 0.1628 0.0469 0.1728 0.04 0.44 0.15 0.05 0.1087 0.44 1 T 0.016 B 0.035 B . . 1.000 P -1.735 N 0.13 T -0.958 T 0.000 T 0.02 -1.523 0.016 0.251 0.049 0.356 4.401 -1.522769 NA NA 0.033627 0.039017 NA 0.043 NA 7.1552064 937 8 125740204 125740204 G A UTR5 MTSS1 NM_014751:c.-8C>T NA NA UTR5 ENSG00000170873 ENST00000354184:c.-159567C>T,ENST00000518547:c.-8C>T,ENST00000378017:c.-8C>T,ENST00000325064:c.-8C>T NA NA Score=643;Name=lod=548 NA 8q24.13 NA Name=YY1_(C-20) Name=13 NA rs78566090 0.07 0.07 0.049 0.0529153 0.0626 0.0804 0.1326 0.0144 0.0102 0.06 0.08 0.13 0.01 0.0624 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.51028 2.51028 NA 0.053953 0.017938 NA 0.036 NA 7.1543804 937 17 67210992 67210992 T C exonic ABCA10 NA nonsynonymous SNV ABCA10:NM_080282:exon10:c.A859G:p.I287V exonic ENSG00000154263 NA nonsynonymous SNV ENSG00000154263:ENST00000518929:exon7:c.A859G:p.I287V,ENSG00000154263:ENST00000523419:exon7:c.A859G:p.I287V,ENSG00000154263:ENST00000522406:exon9:c.A859G:p.I287V,ENSG00000154263:ENST00000269081:exon10:c.A859G:p.I287V,ENSG00000154263:ENST00000416101:exon10:c.A859G:p.I287V,ENSG00000154263:ENST00000432313:exon10:c.A859G:p.I287V NA NA 17q24.3 NA NA NA NA rs11657804 0.26 0.26 0.229 0.261581 0.4076 0.2788 0.2839 0.0166 0.409 0.41 0.24 0.3 0.02 0.3623 0.41 0.65 T 0.198 B 0.123 B . . 0.358 P 0.585 N -2.39 D -1.074 T 0.000 T 0.081 -1.377 0.025 -0.889 -0.462 0.177 5.009 -1.377296 NA 0.39 0.40908 0.083295 NA 0.246 NA 7.1543534 937 11 2415292 2415292 T C intronic CD81 NA NA NA exonic ENSG00000110651 NA nonsynonymous SNV ENSG00000110651:ENST00000481687:exon1:c.T167C:p.V56A NA NA 11p15.5 NA NA NA NA rs1989896 0.02 0.02 0.033 0.0329473 0.002 NA 0.0101 0.118 NA NA NA 0.01 0.1 0.0099 0.1 0.78 T . . . . . . 1.000 N . . 0.21 T -1.098 T 0.002 T 0.041 -1.486 0.018 -0.436 -0.810 -2.217 2.709 -1.486436 NA NA 0.000698 0.1 NA 0.043 NA 7.1540687 937 17 79805134 79805134 G A exonic P4HB NA synonymous SNV P4HB:NM_000918:exon5:c.C714T:p.I238I exonic ENSG00000185624 NA synonymous SNV ENSG00000185624:ENST00000570907:exon2:c.C123T:p.I41I,ENSG00000185624:ENST00000576052:exon3:c.C444T:p.I148I,ENSG00000185624:ENST00000439918:exon4:c.C582T:p.I194I,ENSG00000185624:ENST00000573778:exon4:c.C507T:p.I169I,ENSG00000185624:ENST00000576380:exon4:c.C261T:p.I87I,ENSG00000185624:ENST00000331483:exon5:c.C714T:p.I238I Score=489;Name=lod=129 NA 17q25.3 NA NA NA NA rs2070871 0.13 0.13 0.103 0.0976438 0.168 0.0903 0.2277 0.0083 0.0613 0.18 0.1 0.21 0.01 0.1535 0.21 . . . . . . . . 0.000 P . . . . . . . . . 1.367 10.5 1.03 0.379 0.065 4.806 1.367499 1.367499 0 0.19186 0.035406 NA 0.13 NA 7.1533066 937 20 57290347 57290347 C G exonic NPEPL1 NA nonsynonymous SNV NPEPL1:NM_024663:exon12:c.C1537G:p.L513V,NPEPL1:NM_001204872:exon13:c.C1453G:p.L485V,NPEPL1:NM_001204873:exon13:c.C1393G:p.L465V exonic ENSG00000215440 NA nonsynonymous SNV ENSG00000215440:ENST00000356091:exon12:c.C1537G:p.L513V,ENSG00000215440:ENST00000525817:exon13:c.C1393G:p.L465V,ENSG00000215440:ENST00000525967:exon13:c.C1453G:p.L485V NA NA 20q13.32 NA NA NA NA rs6026468 0.57 0.57 0.627 NA NA NA NA NA NA 0.58 0.45 0.43 0.83 0.573 0.83 1 T 0.0 B 0.0 B 0.406 N 1.000 P -0.895 N 1.57 T -0.928 T 0.000 T 0.068 -1.76 0.01 -10.5 -3.969 -0.623 1.476 -1.760425 NA 0.95 0.607058 0.785544 NA 0.623 NA 7.1532754 937 9 37782111 37782111 C T exonic EXOSC3 NA synonymous SNV EXOSC3:NM_016042:exon3:c.G498A:p.Q166Q exonic ENSG00000107371 NA synonymous SNV ENSG00000107371:ENST00000327304:exon3:c.G498A:p.Q166Q Score=662;Name=lod=653 NA 9p13.2 Score=796;Name=V$SRF_C NA NA NA rs7158 0.54 0.54 0.522 0.564097 0.4841 0.5337 0.5908 0.612 0.5941 0.49 0.52 0.57 0.59 0.5335 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751977 NA NA 0.497209 0.591466 NA 0.435 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117006.2;CLNDSDB=.;CLNDSDBID=. 7.1518576 937 17 46020698 46020698 C T exonic PNPO NA synonymous SNV PNPO:NM_018129:exon2:c.C165T:p.S55S exonic ENSG00000108439 NA synonymous SNV ENSG00000108439:ENST00000225573:exon2:c.C165T:p.S55S,ENSG00000108439:ENST00000434554:exon2:c.C165T:p.S55S,ENSG00000108439:ENST00000544840:exon2:c.C165T:p.S55S Score=619;Name=lod=437 NA 17q21.32 NA NA NA NA rs11079804 0.15 0.15 0.129 0.16254 0.162 0.1617 0.2176 0.0537 0.272 0.15 0.19 0.17 0.07 0.1822 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085518 NA NA 0.170814 0.074898 ID=COSM1179771;OCCURENCE=1(prostate) 0.145 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118001.2;CLNDSDB=.;CLNDSDBID=. 7.1516526 937 3 49362369 49362369 C T exonic USP4 NA synonymous SNV USP4:NM_001251877:exon5:c.G591A:p.K197K,USP4:NM_003363:exon5:c.G591A:p.K197K,USP4:NM_199443:exon5:c.G591A:p.K197K exonic ENSG00000114316 NA synonymous SNV ENSG00000114316:ENST00000265560:exon5:c.G591A:p.K197K,ENSG00000114316:ENST00000351842:exon5:c.G591A:p.K197K,ENSG00000114316:ENST00000415188:exon5:c.G591A:p.K197K,ENSG00000114316:ENST00000416417:exon5:c.G591A:p.K197K Score=556;Name=lod=243 NA 3p21.31 Score=955;Name=V$CEBPB_02 NA NA NA rs56038006 0.13 0.13 0.119 0.0920527 0.1988 0.0546 0.098 0.0651 0.0532 0.2 0.07 0.14 0.07 0.1433 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.99401 NA NA 0.17314 0.09714 ID=COSM149390;OCCURENCE=1(stomach) 0.196 NA 7.1514266 937 4 173232805 173232805 G A exonic GALNTL6 NA synonymous SNV GALNTL6:NM_001034845:exon4:c.G288A:p.E96E exonic ENSG00000174473 NA synonymous SNV ENSG00000174473:ENST00000508122:exon3:c.G237A:p.E79E,ENSG00000174473:ENST00000506823:exon4:c.G288A:p.E96E Score=537;Name=lod=203 NA 4q34.1 Score=941;Name=V$TCF11_01 NA NA NA rs9312524 0.12 0.12 0.12 0.104233 0.1859 0.0089 0.0879 0.1558 0.0603 0.19 0.01 0.09 0.17 0.1434 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174287 NA NA 0.187093 0.151158 NA 0.217 NA 7.1502736 937 5 34811131 34811131 G A exonic RAI14 NA synonymous SNV RAI14:NM_001145523:exon7:c.G441A:p.P147P,RAI14:NM_001145520:exon8:c.G465A:p.P155P,RAI14:NM_001145522:exon8:c.G465A:p.P155P,RAI14:NM_015577:exon8:c.G465A:p.P155P,RAI14:NM_001145521:exon9:c.G465A:p.P155P,RAI14:NM_001145525:exon10:c.G474A:p.P158P exonic ENSG00000039560 NA synonymous SNV ENSG00000039560:ENST00000397449:exon7:c.G444A:p.P148P,ENSG00000039560:ENST00000506376:exon7:c.G441A:p.P147P,ENSG00000039560:ENST00000265109:exon8:c.G465A:p.P155P,ENSG00000039560:ENST00000428746:exon8:c.G465A:p.P155P,ENSG00000039560:ENST00000512629:exon8:c.G465A:p.P155P,ENSG00000039560:ENST00000503673:exon9:c.G465A:p.P155P,ENSG00000039560:ENST00000515799:exon10:c.G474A:p.P158P Score=617;Name=lod=428 NA 5p13.2 NA Name=STAT1 NA NA rs35607113 0.09 0.09 0.08 0.0798722 0.162 0.0109 0.1081 0.0091 0.1421 0.18 0.01 0.14 0.01 0.1624 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.315895 1.315895 NA 0.192093 0.033591 NA 0.065 NA 7.1501736 937 11 117391966 117391966 G A exonic DSCAML1 NA synonymous SNV DSCAML1:NM_020693:exon6:c.C1272T:p.R424R exonic ENSG00000177103 NA synonymous SNV ENSG00000177103:ENST00000527706:exon4:c.C462T:p.R154R,ENSG00000177103:ENST00000321322:exon6:c.C1272T:p.R424R Score=538;Name=lod=204 NA 11q23.3 Score=812;Name=V$CDPCR3_01 NA NA NA rs2276340 0.17 0.17 0.128 0.199681 0.1581 0.253 0.1888 0.0938 0.3384 0.16 0.26 0.17 0.07 0.1974 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491377 1.491377 NA 0.161895 0.104044 NA 0.094 NA 7.1492716 937 15 42459034 42459034 T C exonic VPS39 NA synonymous SNV VPS39:NM_015289:exon14:c.A1455G:p.L485L exonic ENSG00000166887 NA synonymous SNV ENSG00000166887:ENST00000318006:exon14:c.A1455G:p.L485L,ENSG00000166887:ENST00000348544:exon15:c.A1488G:p.L496L Score=481;Name=lod=120 NA 15q15.1 Score=827;Name=V$MYCMAX_01 NA NA NA rs1619030 0.31 0.31 0.303 0.398363 0.1332 0.1815 0.4942 0.739 0.3661 0.12 0.16 0.44 0.67 0.2447 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333606 1.333606 NA 0.139684 0.625511 NA 0.341 NA 7.1490826 937 17 38911363 38911363 G A exonic KRT25 NA nonsynonymous SNV KRT25:NM_181534:exon1:c.C161T:p.S54L exonic ENSG00000204897 NA nonsynonymous SNV ENSG00000204897:ENST00000312150:exon1:c.C161T:p.S54L NA NA 17q21.2 NA NA NA NA rs12951399 0.37 0.37 0.357 0.321086 0.3897 0.6597 0.2911 0.031 0.3149 0.41 0.65 0.3 0.04 0.3827 0.65 0.68 T 0.001 B 0.0 B 0.045 N 1.000 P 0.55 N -1.73 D -0.966 T 0.000 T 0.091 -0.27 2.705 1.03 -0.029 0.676 5.397 -0.2701 NA 0.25 0.413605 0.092828 NA 0.283 NA 7.1473284 937 14 77935520 77935520 G A exonic AHSA1 NA synonymous SNV AHSA1:NM_012111:exon9:c.G945A:p.T315T exonic ENSG00000100591 NA synonymous SNV ENSG00000100591:ENST00000557476:exon2:c.G291A:p.T97T,ENSG00000100591:ENST00000216479:exon9:c.G945A:p.T315T,ENSG00000100591:ENST00000555133:exon9:c.G540A:p.T180T NA NA 14q24.3 NA NA NA NA rs7250 0.51 0.51 0.488 0.479433 0.4871 0.9187 0.513 0.0946 0.5153 0.49 0.92 0.45 0.11 0.5113 0.92 . . . . . . . . 0.000 P . . . . -1.035 T 0.000 T . 0.543 6.94 -4.83 -0.791 -0.993 11.243 0.543292 NA NA 0.522093 0.165002 NA 0.384 NA 7.1461736 937 11 6262715 6262715 G A exonic CNGA4 NA synonymous SNV CNGA4:NM_001037329:exon5:c.G972A:p.Q324Q exonic ENSG00000132259 NA synonymous SNV ENSG00000132259:ENST00000379936:exon5:c.G972A:p.Q324Q,ENSG00000132259:ENST00000533426:exon5:c.G279A:p.Q93Q Score=599;Name=lod=361 NA 11p15.4 Score=863;Name=V$YY1_01 NA NA NA rs7129498 0.19 0.19 0.2 0.212061 0.163 0.0407 0.1599 0.4546 0.1483 0.18 0.04 0.14 0.42 0.1823 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.941443 NA NA 0.176094 0.394366 NA 0.167 NA 7.1452726 938 1 226589958 226589958 G A exonic PARP1 NA synonymous SNV PARP1:NM_001618:exon2:c.C243T:p.D81D exonic ENSG00000143799 NA synonymous SNV ENSG00000143799:ENST00000366790:exon2:c.C243T:p.D81D,ENSG00000143799:ENST00000366791:exon2:c.C243T:p.D81D,ENSG00000143799:ENST00000366792:exon2:c.C243T:p.D81D,ENSG00000143799:ENST00000366794:exon2:c.C243T:p.D81D Score=483;Name=lod=123 NA 1q42.12 Score=862;Name=V$SREBP1_02 NA NA NA rs1805404 0.26 0.26 0.225 0.218251 0.1541 0.4365 0.3573 0.115 0.1002 0.17 0.46 0.33 0.14 0.2085 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043032 NA NA 0.15907 0.125511 NA 0.217 NA 7.1449966 938 8 95655596 95655596 T C exonic ESRP1 NA synonymous SNV ESRP1:NM_001034915:exon3:c.T327C:p.D109D,ESRP1:NM_001122825:exon3:c.T327C:p.D109D,ESRP1:NM_001122826:exon3:c.T327C:p.D109D,ESRP1:NM_001122827:exon3:c.T327C:p.D109D,ESRP1:NM_017697:exon3:c.T327C:p.D109D exonic ENSG00000104413 NA synonymous SNV ENSG00000104413:ENST00000358397:exon3:c.T327C:p.D109D,ENSG00000104413:ENST00000423620:exon3:c.T327C:p.D109D,ENSG00000104413:ENST00000433389:exon3:c.T327C:p.D109D,ENSG00000104413:ENST00000454170:exon3:c.T327C:p.D109D Score=558;Name=lod=247 NA 8q22.1 Score=742;Name=V$TCF11MAFG_01 NA NA NA rs72676907 0.09 0.09 0.078 0.0644968 0.1968 0.002 0.0735 0.0053 0.0665 0.22 0.0035 0.09 0.01 0.1443 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.46142 1.46142 NA 0.181412 0.032581 NA 0.138 NA 7.1441546 938 1 150974971 150974971 T A exonic FAM63A NA nonsynonymous SNV FAM63A:NM_001163258:exon3:c.A267T:p.R89S,FAM63A:NM_018379:exon3:c.A123T:p.R41S exonic ENSG00000143409 NA nonsynonymous SNV ENSG00000143409:ENST00000361738:exon3:c.A267T:p.R89S,ENSG00000143409:ENST00000361936:exon3:c.A123T:p.R41S NA NA 1q21.3 NA NA NA NA rs41310885 0.06 0.06 0.059 0.0533147 0.0646 NA 0.0331 0.1309 0.0061 0.07 NA 0.03 0.13 0.0534 0.13 0.77 T 0.022 B 0.023 B 0.101 N 1.000 P 0.55 N 1.01 T -1.083 T 0.018 T 0.047 2.149 13.14 -0.099 -0.171 -0.099 0.829 2.148898 2.148898 0.18 0.071395 0.132547 NA 0.058 NA 7.1439384 938 16 5132636 5132636 C T exonic ALG1 NA synonymous SNV ALG1:NM_019109:exon11:c.C1149T:p.F383F exonic ENSG00000033011 NA synonymous SNV ENSG00000033011:ENST00000262374:exon11:c.C1149T:p.F383F,ENSG00000033011:ENST00000544428:exon11:c.C816T:p.F272F,ENSG00000033011:ENST00000588623:exon12:c.C816T:p.F272F Score=614;Name=lod=416 NA 16p13.3 Score=948;Name=V$P53_02 NA NA NA rs1047732 0.47 0.47 0.49 0.519768 0.495 0.629 0.415 0.3903 0.682 0.48 0.6 0.41 0.38 0.5243 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.299723 1.299723 NA 0.503534 0.404189 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081982.1;CLNDSDB=.;CLNDSDBID=. 7.1438326 938 1 16330816 16330816 C T exonic C1orf64 NA synonymous SNV C1orf64:NM_178840:exon1:c.C18T:p.D6D exonic ENSG00000183888 NA synonymous SNV ENSG00000183888:ENST00000329454:exon1:c.C18T:p.D6D NA NA 1p36.13 NA Name=Pol2,TAF1,HEY1 Name=2 NA rs1763617 0.2 0.2 0.168 0.195088 0.1581 0.2917 0.2089 0.1369 0.2025 0.17 0.27 0.19 0.16 0.2197 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062375 NA NA 0.145969 0.15066 NA 0.123 NA 7.1428976 938 20 18794714 18794714 C T exonic SCP2D1 NA synonymous SNV SCP2D1:NM_178483:exon1:c.C255T:p.T85T exonic ENSG00000132631 NA synonymous SNV ENSG00000132631:ENST00000377428:exon1:c.C255T:p.T85T Score=445;Name=lod=86 NA 20p11.23 Score=848;Name=V$COUP_01 NA NA NA rs1053834 0.19 0.19 0.202 0.211661 0.175 0.0308 0.1643 0.4062 0.2065 0.18 0.05 0.16 0.38 0.1788 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33438 NA NA 0.17 0.362687 NA 0.268 NA 7.1428666 938 12 9013755 9013755 C T exonic A2ML1 NA nonsynonymous SNV A2ML1:NM_144670:exon28:c.C3364T:p.R1122W exonic ENSG00000166535 NA nonsynonymous SNV ENSG00000166535:ENST00000539547:exon17:c.C1891T:p.R631W,ENSG00000166535:ENST00000541459:exon17:c.C2014T:p.R672W,ENSG00000166535:ENST00000299698:exon28:c.C3364T:p.R1122W NA NA 12p13.31 NA NA NA NA rs1860967 0.46 0.46 0.397 0.432308 0.3867 0.7857 0.5231 0.1067 0.4908 0.39 0.81 0.49 0.13 0.4321 0.81 0.19 T 0.919 P 0.601 P 0.787 N 1.000 P 1.7 L 1.17 T -0.976 T 0.000 T 0.199 0.586 7.164 0.387 0.072 -0.361 2.615 0.586213 NA 0.05 0.372653 0.151854 NA 0.29 NA 7.1418804 938 2 241828012 241828012 T C exonic C2orf54 NA synonymous SNV C2orf54:NM_001085437:exon4:c.A948G:p.E316E,C2orf54:NM_024861:exon4:c.A444G:p.E148E exonic ENSG00000172478 NA synonymous SNV ENSG00000172478:ENST00000307486:exon4:c.A501G:p.E167E,ENSG00000172478:ENST00000388934:exon4:c.A948G:p.E316E,ENSG00000172478:ENST00000402775:exon4:c.A444G:p.E148E Score=399;Name=lod=56 NA 2q37.3 NA Name=CTCF_(SC-5916),CTCF Name=3 NA rs6708304 0.55 0.55 0.568 0.567692 0.5219 0.5278 0.366 0.8192 0.4591 0.52 0.47 0.38 0.82 0.5045 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975264 NA NA 0.498461 0.767569 ID=COSM1406877;OCCURENCE=1(large_intestine) 0.058 NA 7.1418056 938 20 30915461 30915461 T C exonic KIF3B NA synonymous SNV KIF3B:NM_004798:exon7:c.T1965C:p.Y655Y exonic ENSG00000101350 NA synonymous SNV ENSG00000101350:ENST00000375712:exon7:c.T1965C:p.Y655Y,ENSG00000101350:ENST00000418717:exon7:c.T843C:p.Y281Y Score=547;Name=lod=223 NA 20q11.21 Score=777;Name=V$AHR_01 NA NA NA rs1129012 0.22 0.22 0.235 0.201877 0.1859 0.2222 0.1441 0.3313 0.0634 0.18 0.23 0.18 0.32 0.1692 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0339 NA NA 0.171047 0.305493 ID=COSM149160;OCCURENCE=1(stomach) 0.355 NA 7.1405196 938 7 149524913 149524913 G A exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon105:c.G14821A:p.E4941K ncRNA_exonic ENSG00000197558 NA NA NA Score=343;Name=lod=33 NA 7q36.1 Score=767;Name=V$STAT5A_02 NA NA NA rs12534509 0.06 0.06 0.043 0.0469249 0.1292 NA 0.098 0.0129 0.0204 0.12 NA 0.1 0.02 0.0984 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943223 NA 0.06 0.134103 0.021022 NA 0.087 NA 7.138297 938 17 43008970 43008970 T C exonic KIF18B NA nonsynonymous SNV KIF18B:NM_001264573:exon11:c.A1553G:p.Q518R,KIF18B:NM_001265577:exon11:c.A1517G:p.Q506R exonic ENSG00000186185 NA nonsynonymous SNV ENSG00000186185:ENST00000438933:exon10:c.A1553G:p.Q518R,ENSG00000186185:ENST00000590129:exon10:c.A1580G:p.Q527R,ENSG00000186185:ENST00000339151:exon11:c.A1553G:p.Q518R,ENSG00000186185:ENST00000587309:exon11:c.A1553G:p.Q518R,ENSG00000186185:ENST00000593135:exon11:c.A1517G:p.Q506R NA NA 17q21.31 NA NA NA NA rs17546822 0.03 0.03 0.025 0.023762 0.0716 NA 0.0274 0.0045 0.0225 0.07 NA 0.03 0.01 0.0523 0.071 . . 0.001 B 0.002 B . . 1.000 N 1.05 L -0.05 T -1.094 T 0.013 T 0.128 -0.729 0.879 1.07 0.331 -0.038 2.383 -0.729286 NA 0 0.071292 0.021847 NA 0.022 NA 7.1381414 938 11 121175062 121175062 A T intronic SC5D NA NA NA exonic ENSG00000109929 NA nonsynonymous SNV ENSG00000109929:ENST00000527762:exon3:c.A224T:p.H75L NA NA 11q23.3 NA NA NA NA rs116993308 0.0037 0.0037 0.004 0.00319489 0.0109 NA 0.0014 NA 0.0041 0.01 NA NA NA 0.0072 0.011 0.2 T . . . . . . 1.000 N . . -1.6 D -0.764 T 0.260 T 0.108 1.255 10.09 -0.119 0.360 -0.074 1.696 1.254932 1.254932 NA 0.0107 0.002043 NA NA NA 7.1378667 939 10 134646988 134646988 C T exonic TTC40 NA nonsynonymous SNV TTC40:NM_001200049:exon50:c.G6991A:p.A2331T exonic ENSG00000171811 NA nonsynonymous SNV ENSG00000171811:ENST00000263170:exon12:c.G1474A:p.A492T,ENSG00000171811:ENST00000368586:exon50:c.G6991A:p.A2331T NA NA 10q26.3 NA NA NA NA rs4880433 0.32 0.32 0.299 0.319888 0.3986 0.2788 0.513 0.1399 0.3875 0.39 0.27 0.48 0.14 0.3979 0.48 0.03 D 0.086 B 0.008 B 0.923 N 1.000 P 0.83 L 1.47 T -0.916 T 0.000 T 0.419 1.14 9.644 1.39 0.305 0.199 7.725 1.139755 NA 0.05 0.402442 0.174989 NA 0.254 NA 7.1343914 939 5 147024509 147024509 C T exonic JAKMIP2 NA synonymous SNV JAKMIP2:NM_001270934:exon6:c.G987A:p.R329R,JAKMIP2:NM_001270941:exon6:c.G987A:p.R329R,JAKMIP2:NM_014790:exon6:c.G987A:p.R329R exonic ENSG00000176049 NA synonymous SNV ENSG00000176049:ENST00000333010:exon5:c.G861A:p.R287R,ENSG00000176049:ENST00000265272:exon6:c.G987A:p.R329R,ENSG00000176049:ENST00000507386:exon6:c.G987A:p.R329R Score=589;Name=lod=329 NA 5q32 Score=752;Name=V$STAT3_01 NA NA NA rs2116765 0.33 0.33 0.316 0.367812 0.162 0.4712 0.3631 0.5136 0.2791 0.14 0.47 0.3 0.49 0.2342 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.534818 1.534818 NA 0.137791 0.434408 NA 0.362 NA 7.1326756 939 19 3831765 3831765 G A exonic ZFR2 NA nonsynonymous SNV ZFR2:NM_015174:exon4:c.C491T:p.S164L exonic ENSG00000105278 NA nonsynonymous SNV ENSG00000105278:ENST00000262961:exon4:c.C491T:p.S164L,ENSG00000105278:ENST00000438164:exon4:c.C491T:p.S164L NA NA 19p13.3 NA NA NA NA rs2240235 0.41 0.41 0.413 0.367212 0.4195 0.4196 0.4193 0.3858 0.1973 0.41 0.41 0.43 0.4 0.3897 0.43 0.59 T 0.035 B 0.003 B 0.123 N 0.995 P 1.445 L 3.18 T -0.914 T 0.000 T 0.033 2.839 15.46 2.14 0.552 0.516 6.219 2.839235 2.839235 0.01 0.391965 0.398882 ID=COSM439377;OCCURENCE=1(breast) 0.37 NA 7.1321684 939 1 171956803 171956803 C T exonic DNM3 NA synonymous SNV DNM3:NM_001136127:exon3:c.C243T:p.A81A,DNM3:NM_015569:exon3:c.C243T:p.A81A exonic ENSG00000197959 NA synonymous SNV ENSG00000197959:ENST00000355305:exon3:c.C243T:p.A81A,ENSG00000197959:ENST00000358155:exon3:c.C243T:p.A81A,ENSG00000197959:ENST00000367731:exon3:c.C243T:p.A81A,ENSG00000197959:ENST00000367733:exon3:c.C243T:p.A81A,ENSG00000197959:ENST00000520906:exon3:c.C243T:p.A81A Score=595;Name=lod=349 NA 1q24.3 Score=849;Name=V$OCT1_02 NA NA NA rs3736790 0.3 0.3 0.323 0.336462 0.164 0.1974 0.2205 0.736 0.1994 0.16 0.2 0.2 0.68 0.2113 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.182168 NA NA 0.159436 0.611726 NA 0.442 NA 7.1319306 939 6 143081035 143081035 A G exonic HIVEP2 NA synonymous SNV HIVEP2:NM_006734:exon9:c.T6390C:p.S2130S exonic ENSG00000010818 NA synonymous SNV ENSG00000010818:ENST00000012134:exon7:c.T6390C:p.S2130S,ENSG00000010818:ENST00000367604:exon8:c.T6390C:p.S2130S,ENSG00000010818:ENST00000367603:exon9:c.T6390C:p.S2130S Score=543;Name=lod=215 NA 6q24.2 Score=731;Name=V$PAX4_04 NA NA NA rs9496457 0.12 0.12 0.12 0.116214 0.1889 0.005 0.1182 0.1664 0.0869 0.18 0.01 0.14 0.17 0.1484 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592179 NA NA 0.197813 0.145136 NA 0.138 NA 7.1315536 939 14 35592538 35592538 C G exonic KIAA0391 NA synonymous SNV KIAA0391:NM_001256678:exon2:c.C87G:p.V29V,KIAA0391:NM_014672:exon2:c.C87G:p.V29V exonic ENSG00000100890,ENSG00000258790 NA synonymous SNV ENSG00000100890:ENST00000321130:exon2:c.C87G:p.V29V,ENSG00000100890:ENST00000534898:exon2:c.C87G:p.V29V,ENSG00000258790:ENST00000557565:exon2:c.C87G:p.V29V,ENSG00000100890:ENST00000603544:exon2:c.C87G:p.V29V,ENSG00000100890:ENST00000603611:exon2:c.C87G:p.V29V NA NA 14q13.2 NA Name=GATA-2 Name=15 NA rs941653 0.24 0.24 0.229 0.241813 0.165 0.3542 0.2118 0.2474 0.2188 0.17 0.37 0.18 0.26 0.2009 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121107 NA NA 0.169767 0.213118 NA 0.239 NA 7.1309996 939 3 88199298 88199298 T C exonic C3orf38 NA synonymous SNV C3orf38:NM_173824:exon1:c.T96C:p.T32T exonic ENSG00000179021 NA synonymous SNV ENSG00000179021:ENST00000318887:exon1:c.T96C:p.T32T,ENSG00000179021:ENST00000486971:exon1:c.T96C:p.T32T Score=499;Name=lod=142 NA 3p11.1 Score=680;Name=V$PPARG_02 Name=Pol2-4H8,Pol2,c-Myc Name=20 NA rs6551278 0.79 0.79 0.752 0.783347 0.8429 0.8363 0.8516 0.5703 0.907 0.83 0.86 0.87 0.59 0.8413 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.68172 1.68172 NA 0.853372 0.618702 NA 0.674 NA 7.1290946 939 20 13053018 13053018 T G exonic SPTLC3 NA nonsynonymous SNV SPTLC3:NM_018327:exon3:c.T418G:p.L140V exonic ENSG00000172296 NA nonsynonymous SNV ENSG00000172296:ENST00000378194:exon3:c.T418G:p.L140V,ENSG00000172296:ENST00000399002:exon3:c.T418G:p.L140V,ENSG00000172296:ENST00000450297:exon3:c.T337G:p.L113V NA NA 20p12.1 NA NA NA NA rs243887 0.75 0.75 0.775 0.736022 0.7565 0.6052 0.7349 0.9682 0.5368 0.75 0.55 0.77 0.98 0.7138 0.98 0.68 T 0.004 B 0.012 B 0.159 N 0.999 P 0.33 N -0.35 T -0.975 T 0.000 T 0.022 0.214 5.154 -6.28 -1.590 -0.808 1.115 0.213945 NA 0.37 0.734214 0.931769 NA 0.826 NA 7.1288194 939 1 204242838 204242838 A C exonic PLEKHA6 NA synonymous SNV PLEKHA6:NM_014935:exon3:c.T18G:p.G6G exonic ENSG00000143850 NA synonymous SNV ENSG00000143850:ENST00000272203:exon3:c.T18G:p.G6G,ENSG00000143850:ENST00000414478:exon3:c.T18G:p.G6G Score=495;Name=lod=137 NA 1q32.1 Score=873;Name=V$E47_02 NA NA NA rs33911350 0.2 0.2 0.181 0.200479 0.1769 0.2946 0.2406 0.1286 0.1963 0.17 0.26 0.23 0.14 0.1898 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.627396 1.627396 NA 0.171395 0.145483 ID=COSM146743;OCCURENCE=1(stomach) 0.203 NA 7.1285716 939 4 57215677 57215677 G A exonic AASDH NA nonsynonymous SNV AASDH:NM_181806:exon11:c.C2240T:p.A747V exonic ENSG00000157426 NA nonsynonymous SNV ENSG00000157426:ENST00000434343:exon8:c.C785T:p.A262V,ENSG00000157426:ENST00000513376:exon10:c.C1940T:p.A647V,ENSG00000157426:ENST00000602986:exon10:c.C1781T:p.A594V,ENSG00000157426:ENST00000205214:exon11:c.C2240T:p.A747V,ENSG00000157426:ENST00000451613:exon11:c.C2240T:p.A747V,ENSG00000157426:ENST00000502617:exon11:c.C2240T:p.A747V NA NA 4q12 NA NA NA NA rs3796544 0.28 0.28 0.277 0.277955 0.4155 0.0724 0.2939 0.2829 0.3303 0.42 0.06 0.31 0.28 0.3631 0.43 0.56 T 0.003 B 0.003 B 0.528 N 1.000 P -1.67 N 2.3 T -1.052 T 0.000 T 0.069 -1.408 0.022 -10.5 -2.299 -0.527 1.942 -1.407769 NA 0.27 0.426163 0.291648 ID=COSM1131104;OCCURENCE=2(prostate) 0.29 NA 7.1285704 939 1 225142710 225142710 A T exonic DNAH14 NA nonsynonymous SNV DNAH14:NM_001145154:exon3:c.A127T:p.T43S,DNAH14:NM_001373:exon3:c.A127T:p.T43S,DNAH14:NM_144989:exon3:c.A127T:p.T43S exonic ENSG00000185842 NA nonsynonymous SNV ENSG00000185842:ENST00000366848:exon2:c.A127T:p.T43S,ENSG00000185842:ENST00000439375:exon2:c.A127T:p.T43S,ENSG00000185842:ENST00000366849:exon3:c.A127T:p.T43S,ENSG00000185842:ENST00000366850:exon3:c.A127T:p.T43S,ENSG00000185842:ENST00000400952:exon3:c.A127T:p.T43S,ENSG00000185842:ENST00000430092:exon3:c.A127T:p.T43S,ENSG00000185842:ENST00000413949:exon4:c.A127T:p.T43S,ENSG00000185842:ENST00000445597:exon5:c.A658T:p.T220S NA NA 1q42.12 NA NA NA NA rs41267347 0.04 0.04 0.034 0.033746 0.0736 0.0129 0.036 0.0045 0.0521 0.08 0.02 0.04 0.01 0.0596 0.08 0.72 T 0.003 B 0.006 B 0.126 N 1.000 N . . 2.55 T -1.089 T 0.005 T 0.135 -0.57 1.431 -0.167 -0.044 0.016 6.138 -0.570318 NA 0.09 0.071569 0.013588 NA 0.065 NA 7.1285644 939 4 1730215 1730215 C G exonic TACC3 NA synonymous SNV TACC3:NM_006342:exon4:c.C1086G:p.G362G exonic ENSG00000013810 NA synonymous SNV ENSG00000013810:ENST00000313288:exon4:c.C1086G:p.G362G NA NA 4p16.3 NA Name=HA-E2F1 NA NA rs798757 0.13 0.13 0.124 0.136182 0.1759 0.0119 0.1225 0.1914 0.1585 0.17 0.01 0.13 0.18 0.1607 0.2 . . . . . . . . 1.000 P . . . . -1.028 T 0.000 T . -0.023 3.894 0.669 0.190 0.159 3.308 -0.023378 NA NA 0.201628 0.198139 NA 0.043 NA 7.1284386 939 19 49954807 49954807 T G exonic PIH1D1 NA nonsynonymous SNV PIH1D1:NM_017916:exon1:c.A25C:p.M9L exonic ENSG00000104872 NA nonsynonymous SNV ENSG00000104872:ENST00000262265:exon1:c.A25C:p.M9L,ENSG00000104872:ENST00000596049:exon2:c.A25C:p.M9L,ENSG00000104872:ENST00000599366:exon2:c.A25C:p.M9L,ENSG00000104872:ENST00000601825:exon2:c.A25C:p.M9L NA NA 19q13.33 NA Name=NFKB,Pol2 Name=15 NA rs2293012 0.61 0.61 0.587 0.608826 0.7535 0.4117 0.6124 0.6475 0.6084 0.74 0.39 0.63 0.64 0.6862 0.77 0.5 T 0.0 B 0.0 B 0.680 N 1.000 P -0.345 N 2.87 T -1.027 T 0.000 T 0.033 -1.325 0.032 1.33 0.353 0.400 2.806 -1.325226 NA 1 0.765814 0.61734 NA 0.659 NA 7.1278194 939 9 116346287 116346287 C T exonic RGS3 NA synonymous SNV RGS3:NM_001276260:exon2:c.C558T:p.Y186Y,RGS3:NM_130795:exon11:c.C1752T:p.Y584Y,RGS3:NM_144488:exon21:c.C2595T:p.Y865Y exonic ENSG00000138835 NA synonymous SNV ENSG00000138835:ENST00000462143:exon2:c.C558T:p.Y186Y,ENSG00000138835:ENST00000374134:exon3:c.C558T:p.Y186Y,ENSG00000138835:ENST00000343817:exon11:c.C1752T:p.Y584Y,ENSG00000138835:ENST00000350696:exon20:c.C2595T:p.Y865Y,ENSG00000138835:ENST00000374140:exon21:c.C2595T:p.Y865Y Score=409;Name=lod=61 NA 9q32 NA Name=ZNF263 NA NA rs3810927 0.18 0.18 0.165 0.169728 0.1869 0.2103 0.2421 0.1082 0.1421 0.18 0.22 0.23 0.1 0.171 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800269 NA NA 0.183372 0.134135 ID=COSM150682,COSM150681;OCCURENCE=1(stomach) 0.225 NA 7.1253946 939 2 113277949 113277949 T C exonic TTL NA synonymous SNV TTL:NM_153712:exon6:c.T966C:p.D322D exonic ENSG00000114999 NA synonymous SNV ENSG00000114999:ENST00000233336:exon6:c.T966C:p.D322D Score=658;Name=lod=627 NA 2q13 NA Name=c-Myc,Max NA NA rs62157538 0.19 0.19 0.192 0.184305 0.2068 0.2758 0.0937 0.1188 0.2198 0.2 0.3 0.09 0.12 0.1783 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.647197 1.647197 NA 0.156512 0.128007 ID=COSM1398862;OCCURENCE=1(large_intestine) 0.13 NA 7.1250546 940 6 26027135 26027135 G A UTR3 HIST1H4B NM_003544:c.*34C>T NA NA UTR3 ENSG00000124529 ENST00000377364:c.*34C>T NA NA Score=507;Name=lod=153 NA 6p22.2 NA Name=PAX5-N19,PAX5-C20,HEY1,Pol2-4H8,Sin3Ak-20,Pol2(phosphoS2),Pol2,USF2,ELK4,Pol2(b) Name=14 Score=269;Name=2016917_0_+_269 rs3752420 0.42 0.42 0.353 0.391773 0.3946 0.7083 0.4496 0.1324 0.3722 0.39 0.72 0.39 0.16 0.4103 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713498 1.713498 NA 0.403605 0.191557 NA 0.239 NA 7.1248284 940 19 49334991 49334991 C T exonic HSD17B14 NA synonymous SNV HSD17B14:NM_016246:exon5:c.G303A:p.E101E exonic ENSG00000087076 NA synonymous SNV ENSG00000087076:ENST00000595764:exon4:c.G195A:p.E65E,ENSG00000087076:ENST00000263278:exon5:c.G303A:p.E101E Score=289;Name=lod=20 NA 19q13.33 Score=854;Name=V$COUP_01 NA NA NA rs62127966 0.09 0.09 0.081 0.0656949 0.2048 NA 0.0951 0.0076 0.0481 0.2 NA 0.1 0.01 0.1364 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928035 NA NA 0.202326 0.04335 NA 0.116 NA 7.1231406 940 15 85177208 85177208 G A ncRNA_exonic SCAND2P NA NA NA ncRNA_exonic ENSG00000176700,ENSG00000254414,ENSG00000254779 NA NA NA Score=548;Name=lod=224 NA 15q25.2 NA Name=Pol2,CTCF,Sin3Ak-20,HA-E2F1,SUZ12,c-Myc Name=141 NA rs698620 0.66 0.66 0.654 0.673123 0.5437 0.8056 0.549 0.7655 0.6329 0.55 0.79 0.54 0.76 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573641 NA 0.12 NA NA NA 0.065 NA 7.1229666 940 11 123777861 123777861 T C exonic OR8D4 NA synonymous SNV OR8D4:NM_001005197:exon1:c.T723C:p.C241C exonic ENSG00000181518 NA synonymous SNV ENSG00000181518:ENST00000321355:exon1:c.T723C:p.C241C Score=475;Name=lod=114 NA 11q24.1 Score=920;Name=V$LMO2COM_01 NA NA NA rs61748875 0.17 0.17 0.171 0.163339 0.1819 0.0933 0.1398 0.2005 0.183 0.19 0.13 0.15 0.19 0.1718 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.89831 NA NA 0.190044 0.194596 ID=COSM147344;OCCURENCE=1(stomach) 0.167 NA 7.1229226 940 1 228482028 228482028 G C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon42:c.G11307C:p.L3769L,OBSCN:NM_052843:exon42:c.G11307C:p.L3769L,OBSCN:NM_001271223:exon47:c.G12594C:p.L4198L exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000359599:exon31:c.G7848C:p.L2616L,ENSG00000154358:ENST00000284548:exon42:c.G11307C:p.L3769L,ENSG00000154358:ENST00000366707:exon42:c.G2664C:p.L888L,ENSG00000154358:ENST00000366709:exon42:c.G2664C:p.L888L,ENSG00000154358:ENST00000422127:exon42:c.G11307C:p.L3769L,ENSG00000154358:ENST00000570156:exon47:c.G12594C:p.L4198L Score=387;Name=lod=50 NA 1q42.13 NA Name=ZNF263 NA NA rs4653547 0.22 0.22 0.191 0.21246 0.164 0.1835 0.2795 0.3139 0.1074 0.17 0.17 0.28 0.31 0.2036 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.707954 1.707954 NA 0.176581 0.29912 NA 0.225 NA 7.1224856 940 21 9907345 9907345 C T ncRNA_exonic TEKT4P2 NA NA NA ncRNA_exonic ENSG00000188681 NA NA NA Score=547;Name=lod=223 NA 21p11.2 NA NA NA NA rs3694 NA NA 0.475 NA NA NA NA NA NA NA NA NA NA 0.5448 0.087 . . . . . . . . . . . . . . -0.991 T 0.074 T . -0.637 1.184 -0.218 -1.484 0.675 3.942 -0.637225 NA NA NA NA NA 0.08 NA 7.1218666 940 17 39240504 39240504 A G exonic KRTAP4-7 NA nonsynonymous SNV KRTAP4-7:NM_033061:exon1:c.A46G:p.S16G exonic ENSG00000240871 NA nonsynonymous SNV ENSG00000240871:ENST00000391417:exon1:c.A46G:p.S16G NA NA 17q21.2 NA NA NA NA rs11655310 0.54 0.54 0.504 0.621805 0.6153 0.3938 0.6297 0.8873 0.499 0.51 0.34 0.58 0.8 0.5975 0.8 1 T 0.0 B 0.0 B . . 1.000 P . . 6.35 T -1.026 T 0.000 T 0.114 -1.989 0.007 2.03 0.103 0.317 3.845 -1.989467 NA 1 NA NA ID=COSM979035,COSM979036;OCCURENCE=1(liver),1(endometrium) NA NA 7.1205334 940 6 33636907 33636907 C T exonic ITPR3 NA synonymous SNV ITPR3:NM_002224:exon18:c.C2163T:p.H721H exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon18:c.C2163T:p.H721H,ENSG00000096433:ENST00000374316:exon19:c.C2163T:p.H721H Score=470;Name=lod=108 NA 6p21.31 NA Name=c-Myc,Max,USF2,E2F6,PU.1,Mxi1_(bHLH),SMC3_(ab9263) Name=33 NA rs2077163 0.46 0.46 0.443 0.490815 0.504 0.5238 0.4827 0.3707 0.6115 0.49 0.48 0.45 0.4 0.5173 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.363307 1.363307 NA 0.526512 0.387426 NA 0.493 NA 7.1188546 940 8 18729459 18729459 T C exonic PSD3 NA synonymous SNV PSD3:NM_015310:exon3:c.A915G:p.E305E exonic ENSG00000156011 NA synonymous SNV ENSG00000156011:ENST00000523619:exon2:c.A720G:p.E240E,ENSG00000156011:ENST00000327040:exon3:c.A915G:p.E305E,ENSG00000156011:ENST00000440756:exon3:c.A915G:p.E305E Score=479;Name=lod=118 NA 8p22 Score=760;Name=V$STAT5A_02 NA NA NA rs13273954 0.27 0.27 0.272 0.294129 0.171 0.3095 0.2406 0.3691 0.3415 0.18 0.32 0.23 0.4 0.2175 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018049 NA NA 0.160423 0.317955 NA 0.188 NA 7.1177436 940 22 43976396 43976396 G A exonic EFCAB6 NA nonsynonymous SNV EFCAB6:NM_198856:exon23:c.C2720T:p.A907V,EFCAB6:NM_022785:exon25:c.C3176T:p.A1059V exonic ENSG00000186976 NA nonsynonymous SNV ENSG00000186976:ENST00000396231:exon23:c.C2720T:p.A907V,ENSG00000186976:ENST00000262726:exon25:c.C3176T:p.A1059V NA NA 22q13.2 NA NA NA NA rs9614382 0.77 0.77 0.741 0.744209 0.7396 0.756 0.8545 0.7799 0.6104 0.73 0.77 0.84 0.76 0.7424 0.84 0.92 T 0.001 B 0.005 B 0.992 N 1.000 P -0.805 N 2.39 T -1.002 T 0.000 T 0.047 -1.028 0.222 2.92 0.402 1.849 4.201 -1.027689 NA 1 0.735814 0.747163 NA 0.674 NA 7.1155194 940 17 78172292 78172292 G A exonic CARD14 NA nonsynonymous SNV CARD14:NM_052819:exon10:c.G1042A:p.V348I,CARD14:NM_001257970:exon13:c.G1753A:p.V585I,CARD14:NM_024110:exon13:c.G1753A:p.V585I exonic ENSG00000141527 NA nonsynonymous SNV ENSG00000141527:ENST00000392434:exon10:c.G1042A:p.V348I,ENSG00000141527:ENST00000344227:exon13:c.G1753A:p.V585I,ENSG00000141527:ENST00000570421:exon13:c.G1753A:p.V585I,ENSG00000141527:ENST00000573882:exon15:c.G1753A:p.V585I NA NA 17q25.3 NA NA NA NA rs34367357 0.08 0.08 0.037 0.0780751 0.0646 0.0962 0.1643 0.0227 0.0869 0.07 0.08 0.15 0.02 0.0842 0.15 1 T 0.017 B 0.006 B 0.168 N 1.000 P -0.09 N 1.18 T -0.987 T 0.000 T 0.286 -0.767 0.768 -1.35 -0.085 -0.155 9.586 -0.766886 NA 0.28 0.069086 0.031548 NA 0.051 NA 7.1154474 940 2 105977761 105977761 G A exonic FHL2 NA synonymous SNV FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_201555:exon8:c.C819T:p.P273P exonic ENSG00000115641 NA synonymous SNV ENSG00000115641:ENST00000393352:exon6:c.C819T:p.P273P,ENSG00000115641:ENST00000393353:exon6:c.C819T:p.P273P,ENSG00000115641:ENST00000408995:exon6:c.C819T:p.P273P,ENSG00000115641:ENST00000409177:exon6:c.C1167T:p.P389P,ENSG00000115641:ENST00000409807:exon6:c.C819T:p.P273P,ENSG00000115641:ENST00000322142:exon7:c.C819T:p.P273P,ENSG00000115641:ENST00000344213:exon7:c.C1149T:p.P383P,ENSG00000115641:ENST00000358129:exon8:c.C819T:p.P273P NA NA 2q12.1 NA NA Name=2 NA rs11124029 0.13 0.13 0.115 0.111422 0.1988 0.0258 0.1614 0.0809 0.1155 0.2 0.03 0.18 0.09 0.1567 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580214 NA NA 0.19593 0.102814 NA 0.21 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041653.1;CLNDSDB=.;CLNDSDBID=. 7.1152366 941 19 52376507 52376507 T C exonic ZNF577 NA nonsynonymous SNV ZNF577:NM_001135590:exon7:c.A559G:p.K187E,ZNF577:NM_032679:exon7:c.A736G:p.K246E exonic ENSG00000161551 NA nonsynonymous SNV ENSG00000161551:ENST00000420592:exon6:c.A559G:p.K187E,ENSG00000161551:ENST00000458390:exon6:c.A736G:p.K246E,ENSG00000161551:ENST00000301399:exon7:c.A736G:p.K246E,ENSG00000161551:ENST00000451628:exon7:c.A559G:p.K187E NA NA 19q13.41 NA Name=ZNF274,SETDB1 NA NA rs2288868 0.45 0.45 0.447 0.506589 0.3897 0.3026 0.4553 0.6808 0.638 0.4 0.31 0.48 0.68 0.442 0.68 1 T 0.0 B 0.0 B . . 1.000 P -1.07 N 3.19 T -0.987 T 0.000 T 0.05 -2.339 0.004 0.885 -0.108 -0.289 7.522 -2.338582 NA 1 0.386744 0.635724 NA 0.594 NA 7.1148894 941 1 223284528 223284528 A G exonic TLR5 NA nonsynonymous SNV TLR5:NM_003268:exon6:c.T1846C:p.F616L exonic ENSG00000187554 NA nonsynonymous SNV ENSG00000187554:ENST00000342210:exon4:c.T1846C:p.F616L,ENSG00000187554:ENST00000540964:exon4:c.T1846C:p.F616L,ENSG00000187554:ENST00000366881:exon6:c.T1846C:p.F616L NA NA 1q41 NA NA NA NA rs5744174 0.28 0.28 0.239 0.290335 0.4095 0.1984 0.3487 0.1089 0.4663 0.41 0.18 0.34 0.14 0.3901 0.42 1 T 0.0 B 0.002 B 0.037 N 1.000 P -1.06 N 2.29 T -1.014 T 0.000 T 0.015 -1.889 0.008 -11.2 -3.660 -0.885 12.701 -1.889258 NA 1 0.419767 0.168407 NA 0.217 NA 7.1139664 941 9 312124 312124 T C exonic DOCK8 NA synonymous SNV DOCK8:NM_001190458:exon5:c.T495C:p.N165N,DOCK8:NM_001193536:exon5:c.T495C:p.N165N,DOCK8:NM_203447:exon6:c.T699C:p.N233N exonic ENSG00000107099 NA synonymous SNV ENSG00000107099:ENST00000469391:exon5:c.T495C:p.N165N,ENSG00000107099:ENST00000483757:exon5:c.T495C:p.N165N,ENSG00000107099:ENST00000432829:exon6:c.T495C:p.N165N,ENSG00000107099:ENST00000453981:exon6:c.T699C:p.N233N Score=391;Name=lod=52 NA 9p24.3 Score=877;Name=V$NFY_01 NA NA NA rs2039045 0.15 0.15 0.126 0.164337 0.1859 0.0099 0.196 0.2542 0.1575 0.17 0.01 0.2 0.22 0.1681 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.446302 1.446302 NA 0.198721 0.251929 NA 0.239 NA 7.1139456 941 5 79030212 79030212 C T exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.C5624T:p.A1875V exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.C5624T:p.A1875V NA NA 5q14.1 NA NA NA NA rs16877147 0.15 0.15 0.181 0.126797 0.0606 0.3621 0.036 0.0749 0.0869 0.06 0.41 0.03 0.1 0.093 0.41 1 T 0.01 B 0.005 B 0.330 N 1.000 P 0.46 N 3.14 T -0.941 T 0.000 T 0.03 1.411 10.65 -1.69 -0.228 0.127 3.546 1.411075 1.411075 0.82 0.065835 0.06044 ID=COSM149870;OCCURENCE=1(stomach) 0.159 NA 7.1138984 941 20 31627291 31627291 A G exonic BPIFB6 NA nonsynonymous SNV BPIFB6:NM_174897:exon10:c.A1039G:p.S347G exonic ENSG00000167104 NA nonsynonymous SNV ENSG00000167104:ENST00000349552:exon10:c.A1039G:p.S347G NA NA 20q11.21 NA NA NA NA rs4911287 0.58 0.58 0.594 0.60643 0.3917 0.7421 0.4827 0.7716 0.5521 0.39 0.72 0.46 0.8 0.4506 0.8 0.67 T 0.0 B 0.0 B 0.477 N 1.000 P -1.1 N 3.27 T -1.068 T 0.000 T 0.029 -0.89 0.46 2.02 0.396 0.538 5.958 -0.889715 NA 1 0.377209 0.694507 NA 0.58 NA 7.1138244 941 2 98709684 98709684 T C exonic VWA3B NA synonymous SNV VWA3B:NM_144992:exon2:c.T129C:p.H43H exonic ENSG00000168658 NA synonymous SNV ENSG00000168658:ENST00000416277:exon2:c.T129C:p.H43H,ENSG00000168658:ENST00000422503:exon2:c.T129C:p.H43H,ENSG00000168658:ENST00000432242:exon2:c.T129C:p.H43H,ENSG00000168658:ENST00000433678:exon2:c.T129C:p.H43H,ENSG00000168658:ENST00000435344:exon2:c.T129C:p.H43H,ENSG00000168658:ENST00000448638:exon2:c.T129C:p.H43H,ENSG00000168658:ENST00000477737:exon2:c.T129C:p.H43H Score=383;Name=lod=48 NA 2q11.2 NA NA Name=4 NA rs298917 0.12 0.12 0.095 0.106829 0.1938 0.0407 0.1427 0.0877 0.0859 0.2 0.03 0.12 0.08 0.1574 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126774 NA NA 0.201778 0.096791 NA 0.087 NA 7.1136886 941 11 5906203 5906203 T G exonic OR52E4 NA nonsynonymous SNV OR52E4:NM_001005165:exon1:c.T681G:p.F227L exonic ENSG00000180974 NA nonsynonymous SNV ENSG00000180974:ENST00000316987:exon1:c.T681G:p.F227L NA NA 11p15.4 NA NA NA NA rs11823828 0.38 0.38 0.348 0.357827 0.4085 0.3641 0.402 0.3207 0.318 0.42 0.36 0.42 0.31 0.3903 0.42 0.18 T 0.035 B 0.107 B 0.000 D 1.000 P 0.825 L 9.26 T -1.050 T 0.000 T 0.076 1.583 11.25 0.395 0.202 -0.301 5.237 1.582573 1.582573 0.17 0.421904 0.339618 NA 0.355 NA 7.1126294 941 1 232581436 232581436 G A exonic SIPA1L2 NA synonymous SNV SIPA1L2:NM_020808:exon9:c.C3192T:p.T1064T exonic ENSG00000116991 NA synonymous SNV ENSG00000116991:ENST00000308942:exon3:c.C414T:p.T138T,ENSG00000116991:ENST00000262861:exon9:c.C3192T:p.T1064T,ENSG00000116991:ENST00000366630:exon10:c.C3192T:p.T1064T Score=582;Name=lod=310 NA 1q42.2 Score=975;Name=V$MYCMAX_02 NA NA NA rs12757779 0.1 0.1 0.079 0.0892572 0.1889 0.001 0.1657 0.0363 0.0951 0.18 NA 0.17 0.04 0.1582 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.375917 1.375917 NA 0.207382 0.067788 NA 0.174 NA 7.1121846 941 7 930689 930689 C T exonic GET4 NA synonymous SNV GET4:NM_015949:exon5:c.C591T:p.A197A exonic ENSG00000239857 NA synonymous SNV ENSG00000239857:ENST00000426056:exon3:c.C474T:p.A158A,ENSG00000239857:ENST00000407192:exon4:c.C432T:p.A144A,ENSG00000239857:ENST00000265857:exon5:c.C591T:p.A197A,ENSG00000239857:ENST00000412734:exon5:c.C432T:p.A144A Score=594;Name=lod=347 NA 7p22.3 Score=816;Name=V$GRE_C NA NA NA rs13171 0.21 0.21 0.164 0.201078 0.1879 0.2669 0.2435 0.0862 0.272 0.18 0.31 0.23 0.1 0.2001 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.657758 1.657758 NA 0.16686 0.099183 ID=COSM453587;OCCURENCE=1(breast) 0.145 NA 7.1118066 941 15 42442823 42442823 G C exonic PLA2G4F NA nonsynonymous SNV PLA2G4F:NM_213600:exon8:c.C754G:p.L252V exonic ENSG00000168907 NA nonsynonymous SNV ENSG00000168907:ENST00000382396:exon8:c.C754G:p.L252V,ENSG00000168907:ENST00000397272:exon8:c.C754G:p.L252V,ENSG00000168907:ENST00000569985:exon8:c.C689G:p.A230G NA NA 15q15.1 NA NA NA NA rs73403546 0.17 0.17 0.159 0.214856 0.0507 0.1131 0.3069 0.4349 0.1258 0.04 0.09 0.25 0.4 0.1139 0.4 0.3 T 0.001 B 0.0 B 0.690 N 1.000 P 1.1 L 4.97 T -1.002 T 0.000 T 0.025 -0.231 2.887 -1.99 -0.451 0.211 5.748 -0.230561 NA 0.2 0.057572 0.373355 NA 0.196 NA 7.1111614 941 9 130698043 130698043 A G exonic DPM2 NA synonymous SNV DPM2:NM_003863:exon4:c.T213C:p.Y71Y exonic ENSG00000136908 NA synonymous SNV ENSG00000136908:ENST00000314392:exon4:c.T213C:p.Y71Y Score=410;Name=lod=62 NA 9q34.11 NA Name=MafK_(ab50322),eGFP-GATA2,eGFP-JunD,Pol2,GATA-1 Name=38 NA rs6781 0.76 0.76 0.724 0.73103 0.8728 0.6498 0.8833 0.6498 0.6708 0.87 0.62 0.86 0.69 0.8139 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872309 NA NA 0.869535 0.681117 NA 0.79 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116900.1;CLNDSDB=.;CLNDSDBID=. 7.1104316 941 17 62019103 62019103 G T exonic SCN4A NA synonymous SNV SCN4A:NM_000334:exon24:c.C4539A:p.I1513I exonic ENSG00000007314 NA synonymous SNV ENSG00000007314:ENST00000435607:exon24:c.C4539A:p.I1513I,ENSG00000007314:ENST00000578147:exon24:c.C4539A:p.I1513I Score=614;Name=lod=417 NA 17q23.3 NA NA NA NA rs56342400 0.16 0.16 0.154 0.140176 0.1968 0.1062 0.1254 0.1452 0.1207 0.19 0.12 0.13 0.18 0.1639 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447905 NA NA 0.195698 0.133227 ID=COSM148317;OCCURENCE=1(stomach) 0.181 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078661.2;CLNDSDB=.;CLNDSDBID=. 7.1102686 941 8 87755955 87755955 A T upstream CNGB3 NA NA NA ncRNA_intronic ENSG00000254115 NA NA NA Score=473;Name=lod=112 NA 8q21.3 Score=895;Name=V$S8_01 NA Name=4 NA rs62622781 0.03 0.03 0.027 0.0169728 0.0567 NA 0.0144 0.0015 0.0164 0.06 NA 0.02 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.330764 5.330764 NA NA NA NA 0.014 NA 7.1099666 941 3 129293256 129293256 T C exonic PLXND1 NA nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2608G:p.M870V exonic ENSG00000004399 NA nonsynonymous SNV ENSG00000004399:ENST00000324093:exon12:c.A2608G:p.M870V,ENSG00000004399:ENST00000393239:exon12:c.A2608G:p.M870V Score=458;Name=lod=97 NA 3q22.1 NA NA NA NA rs2255703 0.48 0.48 0.487 0.511981 0.4115 0.5109 0.3559 0.7247 0.4397 0.4 0.48 0.36 0.68 0.4201 0.68 0.45 T 0.0 B 0.0 B 0.392 N 0.762 P -1.5 N 1.63 T -0.991 T 0.000 T 0.031 -2.338 0.004 0.907 0.076 0.079 2.019 -2.338084 NA 1 0.39181 0.670754 ID=COSM1418855;OCCURENCE=1(large_intestine) 0.543 NA 7.1099234 941 7 103155864 103155864 A G exonic RELN NA synonymous SNV RELN:NM_005045:exon50:c.T7887C:p.P2629P,RELN:NM_173054:exon50:c.T7887C:p.P2629P exonic ENSG00000189056 NA synonymous SNV ENSG00000189056:ENST00000343529:exon50:c.T7887C:p.P2629P,ENSG00000189056:ENST00000424685:exon50:c.T7887C:p.P2629P,ENSG00000189056:ENST00000428762:exon50:c.T7887C:p.P2629P Score=531;Name=lod=192 NA 7q22.1 NA NA NA NA rs56345626 0.19 0.19 0.18 0.17492 0.1849 0.254 0.1513 0.1339 0.1554 0.2 0.27 0.15 0.12 0.1816 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409005 1.409005 NA 0.191047 0.127099 NA 0.13 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118171.2;CLNDSDB=.;CLNDSDBID=. 7.1091196 941 14 94935566 94935566 G A exonic SERPINA9 NA synonymous SNV SERPINA9:NM_175739:exon2:c.C666T:p.N222N,SERPINA9:NM_001042518:exon3:c.C366T:p.N122N exonic ENSG00000170054 NA synonymous SNV ENSG00000170054:ENST00000337425:exon2:c.C666T:p.N222N,ENSG00000170054:ENST00000380365:exon2:c.C612T:p.N204N,ENSG00000170054:ENST00000448305:exon2:c.C372T:p.N124N,ENSG00000170054:ENST00000546329:exon2:c.C558T:p.N186N,ENSG00000170054:ENST00000298845:exon3:c.C366T:p.N122N,ENSG00000170054:ENST00000424550:exon3:c.C219T:p.N73N Score=492;Name=lod=133 NA 14q32.13 Score=1000;Name=V$AML1_01 NA NA NA rs4900231 0.15 0.15 0.155 0.117612 0.2097 0.1796 0.121 0.0068 0.1063 0.22 0.2 0.12 0.01 0.1556 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060659 NA NA 0.192345 0.034287 NA 0.116 NA 7.1090216 941 18 13826508 13826508 C T exonic MC5R NA synonymous SNV MC5R:NM_005913:exon1:c.C744T:p.T248T exonic ENSG00000176136 NA synonymous SNV ENSG00000176136:ENST00000324750:exon1:c.C744T:p.T248T Score=554;Name=lod=237 NA 18p11.21 NA NA NA Score=54;Name=1060167.5_0_+_54 rs2236701 0.27 0.27 0.25 0.264377 0.173 0.3433 0.3573 0.3109 0.1483 0.17 0.37 0.3 0.28 0.2066 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.206722 NA NA 0.178605 0.28552 NA 0.196 NA 7.1084616 941 2 20101487 20101487 G A exonic TTC32 NA synonymous SNV TTC32:NM_001008237:exon1:c.C129T:p.S43S exonic ENSG00000183891 NA synonymous SNV ENSG00000183891:ENST00000333610:exon1:c.C129T:p.S43S,ENSG00000183891:ENST00000402414:exon1:c.C129T:p.S43S NA NA 2p24.1 NA Name=Pol2-4H8,TR4,BRCA1_(C-1863),Sin3Ak-20,TAF7_(SQ-8),Pol2(phosphoS2),TCF4,Pol2,ZBTB33,CTCFL_(SC-98982),TAF1,ETS1,GTF2F1_(RAP-74),CHD2_(N-1250),BAF155,TBP,GTF2B,Nrf1,CTCF,FOXA2_(SC-6554),HEY1 Name=148 NA rs2304589 0.24 0.24 0.231 0.281749 0.175 0.4028 0.2305 0.208 0.4029 0.16 0.41 0.21 0.2 0.2214 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733129 NA NA 0.16186 0.205175 NA 0.174 NA 7.1084066 941 15 89422286 89422286 C T exonic HAPLN3 NA synonymous SNV HAPLN3:NM_178232:exon4:c.G708A:p.P236P exonic ENSG00000140511 NA synonymous SNV ENSG00000140511:ENST00000359595:exon4:c.G708A:p.P236P,ENSG00000140511:ENST00000562889:exon5:c.G894A:p.P298P NA NA 15q26.1 Score=849;Name=V$HAND1E47_01 NA Name=108 NA rs3809574 0.21 0.21 0.201 0.202276 0.1779 0.2292 0.2032 0.236 0.1534 0.17 0.23 0.21 0.24 0.2101 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194362 NA NA 0.170441 0.238356 ID=COSM330323;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.246 NA 7.1082256 941 15 90260145 90260145 T A exonic WDR93 NA nonsynonymous SNV WDR93:NM_020212:exon7:c.T760A:p.S254T exonic ENSG00000140527 NA nonsynonymous SNV ENSG00000140527:ENST00000268130:exon7:c.T760A:p.S254T,ENSG00000140527:ENST00000560294:exon7:c.T760A:p.S254T NA NA 15q26.1 NA NA NA NA rs7163367 0.35 0.35 0.358 0.3752 0.3956 0.2044 0.3112 0.4766 0.4387 0.39 0.23 0.35 0.41 0.3914 0.51 1 T 0.0 B 0.0 B 0.399 N 1.000 P -1.79 N 2.01 T -0.989 T 0.000 T 0.033 -1.739 0.011 -2.28 -0.913 -0.435 0.951 -1.739211 NA 1 0.440568 0.471364 ID=COSM1178437;OCCURENCE=1(prostate) 0.529 NA 7.1057654 941 8 124553222 124553222 G C exonic FBXO32 NA synonymous SNV FBXO32:NM_001242463:exon1:c.C33G:p.P11P,FBXO32:NM_058229:exon1:c.C33G:p.P11P exonic ENSG00000156804 NA synonymous SNV ENSG00000156804:ENST00000443022:exon1:c.C33G:p.P11P,ENSG00000156804:ENST00000517956:exon1:c.C33G:p.P11P Score=643;Name=lod=547 NA 8q24.13 Score=800;Name=V$COMP1_01 NA NA NA rs4871385 0.14 0.14 0.073 0.121206 0.1968 0.0218 0.196 0.1301 0.0808 0.2 0.02 0.2 0.13 0.1759 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.81538 1.81538 NA 0.188953 0.13465 NA 0.022 NA 7.1050136 942 20 55949872 55949872 G T ncRNA_intronic MIR5095 NA NA NA exonic ENSG00000101146 NA synonymous SNV ENSG00000101146:ENST00000527947:exon11:c.G1035T:p.G345G NA NA 20q13.31 NA Name=Max Name=11 NA rs41310034 0.01 0.01 NA 0.00938498 0.0219 NA 0.0072 0.0015 0.0184 0.02 NA 0.01 NA 0.0177 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121498 NA NA 0.022442 0.004085 NA 0.072 NA 7.1046246 942 1 197070776 197070776 C T exonic ASPM NA synonymous SNV ASPM:NM_018136:exon18:c.G7605A:p.V2535V exonic ENSG00000066279 NA synonymous SNV ENSG00000066279:ENST00000367409:exon18:c.G7605A:p.V2535V NA Name=End-stage coagulation 1q31.3 NA NA NA NA rs10922162 0.29 0.29 0.23 0.294928 0.172 0.6696 0.428 0.0159 0.318 0.16 0.65 0.34 0.02 0.2396 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238317 NA NA 0.151036 0.044278 NA 0.21 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000020793.1|RCV000123702.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512|. 7.1040306 942 7 100028484 100028484 T C exonic MEPCE NA synonymous SNV MEPCE:NM_019606:exon1:c.T843C:p.S281S exonic ENSG00000146834 NA synonymous SNV ENSG00000146834:ENST00000310512:exon1:c.T843C:p.S281S NA NA 7q22.1 NA Name=Pol2,TBP,ZNF263,Pol2-4H8 Name=67 NA rs6962151 0.15 0.15 0.158 0.161142 0.1948 0.0218 0.1326 0.2943 0.1104 0.19 0.01 0.12 0.27 0.1705 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.211853 NA NA 0.197907 0.284385 NA 0.246 NA 7.1034596 942 12 130839165 130839165 G A exonic PIWIL1 NA synonymous SNV PIWIL1:NM_001190971:exon10:c.G1128A:p.L376L,PIWIL1:NM_004764:exon10:c.G1128A:p.L376L exonic ENSG00000125207 NA synonymous SNV ENSG00000125207:ENST00000245255:exon10:c.G1128A:p.L376L NA NA 12q24.33 Score=675;Name=V$P53_01 NA Name=3 NA rs10848087 0.17 0.17 0.141 0.185304 0.1928 0.1012 0.1138 0.2564 0.2188 0.18 0.12 0.14 0.24 0.1778 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465513 NA NA 0.192907 0.220835 NA 0.217 NA 7.1031596 942 20 47267480 47267480 A G exonic PREX1 NA synonymous SNV PREX1:NM_020820:exon23:c.T2769C:p.C923C exonic ENSG00000124126 NA synonymous SNV ENSG00000124126:ENST00000371941:exon23:c.T2769C:p.C923C,ENSG00000124126:ENST00000396220:exon23:c.T2769C:p.C923C Score=489;Name=lod=129 NA 20q13.13 Score=896;Name=V$TAL1ALPHAE47_01 NA NA NA rs41283556 0.14 0.14 0.115 0.150759 0.1849 0.1528 0.2118 0.0197 0.2474 0.18 0.15 0.22 0.03 0.1901 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.154464 NA NA 0.188837 0.056968 NA 0.123 NA 7.1028296 942 11 64645871 64645871 A G exonic EHD1 NA synonymous SNV EHD1:NM_006795:exon1:c.T66C:p.A22A exonic ENSG00000110047 NA synonymous SNV ENSG00000110047:ENST00000320631:exon1:c.T66C:p.A22A,ENSG00000110047:ENST00000411683:exon2:c.T66C:p.A22A,ENSG00000110047:ENST00000433803:exon2:c.T108C:p.A36A,ENSG00000110047:ENST00000457202:exon2:c.T66C:p.A22A,ENSG00000110047:ENST00000359393:exon3:c.T66C:p.A22A Score=658;Name=lod=631 NA 11q13.1 Score=762;Name=V$NRSF_01 Name=Pol2(b),Ini1,Sin3Ak-20,ZNF263,Pol2-4H8,CTCFL_(SC-98982),Pol2,BAF155 Name=30 NA rs1211284 0.67 0.67 0.621 0.64976 0.8777 0.5615 0.817 0.3396 0.8067 0.89 0.55 0.81 0.38 0.8085 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.054893 2.054893 NA 0.878985 0.451159 NA 0.645 NA 7.1014816 942 6 31084964 31084964 T C exonic CDSN NA nonsynonymous SNV CDSN:NM_001264:exon2:c.A428G:p.N143S exonic ENSG00000204539 NA nonsynonymous SNV ENSG00000204539:ENST00000376288:exon2:c.A428G:p.N143S NA NA 6p21.33 NA NA Name=48 NA rs3130984 0.8 0.8 0.812 0.834465 0.7356 0.875 0.7666 0.913 0.8364 0.72 0.86 0.73 0.91 0.7639 0.91 1 T 0.0 B 0.0 B 0.318 N 1.000 P -1.59 N 3.79 T -0.963 T 0.001 T 0.018 -1.299 0.038 0.77 -0.023 -1.156 5.029 -1.298628 NA 1 0.732547 0.887774 NA 0.449 NA 7.1012864 942 5 79028513 79028513 A G exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.A3925G:p.I1309V exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A3925G:p.I1309V NA NA 5q14.1 NA NA NA NA rs16877133 0.21 0.21 0.238 0.180911 0.0596 0.3621 0.0476 0.2738 0.0879 0.06 0.41 0.04 0.33 0.1073 0.41 0.83 T 0.296 B 0.041 B 0.168 N 1.000 P 1.245 L 0.98 T -1.009 T 0.000 T 0.013 -0.699 0.975 -0.636 -0.083 0.326 6.877 -0.699017 NA 0.29 0.065969 0.224038 ID=COSM149867;OCCURENCE=1(stomach) 0.21 NA 7.1004644 942 5 79028586 79028586 C T exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.C3998T:p.A1333V exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.C3998T:p.A1333V NA NA 5q14.1 NA NA NA NA rs16877135 0.21 0.21 0.254 0.180911 0.0596 0.3621 0.0476 0.2738 0.0879 0.06 0.41 0.04 0.33 0.1075 0.41 0.39 T 0.057 B 0.041 B 0.271 N 1.000 P 0.68 N 1.25 T -0.911 T 0.000 T 0.039 1.189 9.831 1.33 0.404 -0.710 3.791 1.188536 NA 0.16 0.065895 0.223782 NA 0.21 NA 7.1003384 942 14 69262433 69262433 C T intronic ZFP36L1 NA NA NA UTR3 ENSG00000185650 ENST00000408913:c.*78G>A NA NA Score=417;Name=lod=66 NA 14q24.1 NA Name=p300,Oct-2,MEF2A,Pol2,POU2F2,TAF1,TBP,NFKB,AP-2gamma,Pol2-4H8,ZNF263,HA-E2F1,FOXA1_(C-20) Name=144 NA rs76356898 0.03 0.03 0.029 0.0205671 0.0666 0.002 0.0403 0.0015 0.0041 0.05 0.0017 0.04 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813632 NA NA NA NA NA 0.007 NA 7.1000667 942 5 79032711 79032711 G A exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.G8123A:p.R2708H exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.G8123A:p.R2708H NA NA 5q14.1 NA NA NA NA rs28362542 0.21 0.21 0.243 0.181709 0.0596 0.3621 0.0476 0.2769 0.0879 0.06 0.41 0.04 0.33 0.1078 0.41 1 T 0.0 B 0.0 B . . 1.000 P -0.6 N 2.46 T -0.923 T 0.000 T 0.061 -0.673 1.06 0.521 0.068 -0.775 3.108 -0.673237 NA 1 0.066324 0.234418 NA 0.21 NA 7.0996094 942 3 14745857 14745857 G A exonic C3orf20 NA nonsynonymous SNV C3orf20:NM_001184957:exon7:c.G526A:p.A176T,C3orf20:NM_001184958:exon7:c.G526A:p.A176T,C3orf20:NM_032137:exon7:c.G892A:p.A298T exonic ENSG00000131379 NA nonsynonymous SNV ENSG00000131379:ENST00000253697:exon7:c.G892A:p.A298T,ENSG00000131379:ENST00000412910:exon7:c.G526A:p.A176T,ENSG00000131379:ENST00000435614:exon7:c.G526A:p.A176T NA NA 3p25.1 NA NA NA NA rs17040196 0.41 0.41 0.423 0.376997 0.4175 0.3155 0.4553 0.4236 0.2802 0.42 0.31 0.43 0.47 0.3922 0.47 0.6 T 0.017 B 0.011 B 0.284 N 1.000 P 0.805 L 3.43 T -0.916 T 0.000 T 0.018 -0.924 0.39 -3.04 -0.525 -0.499 10.785 -0.923774 NA 0.42 0.425233 0.430776 NA 0.449 NA 7.0984004 942 20 47267940 47267940 G A exonic PREX1 NA synonymous SNV PREX1:NM_020820:exon22:c.C2649T:p.T883T exonic ENSG00000124126 NA synonymous SNV ENSG00000124126:ENST00000371941:exon22:c.C2649T:p.T883T,ENSG00000124126:ENST00000396220:exon22:c.C2649T:p.T883T Score=490;Name=lod=131 NA 20q13.13 Score=890;Name=V$NF1_Q6 NA NA NA rs61748372 0.14 0.14 0.117 0.150759 0.1849 0.1528 0.2118 0.0197 0.2474 0.18 0.15 0.22 0.03 0.1953 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.084477 NA NA 0.188488 0.056514 NA 0.123 NA 7.0979786 942 19 49950298 49950298 C T exonic PIH1D1 NA nonsynonymous SNV PIH1D1:NM_017916:exon7:c.G670A:p.V224I exonic ENSG00000104872 NA nonsynonymous SNV ENSG00000104872:ENST00000262265:exon7:c.G670A:p.V224I,ENSG00000104872:ENST00000601807:exon7:c.G637A:p.V213I,ENSG00000104872:ENST00000596049:exon8:c.G670A:p.V224I Score=496;Name=lod=138 NA 19q13.33 NA NA NA NA rs13394 0.68 0.68 0.699 0.688898 0.7545 0.4177 0.6441 0.9274 0.6104 0.74 0.39 0.66 0.92 0.7139 0.92 1 T 0.0 B 0.002 B 0.000 N 1.000 P -0.02 N 2.36 T -0.964 T 0.000 T 0.027 -0.82 0.623 2.67 0.425 0.159 5.949 -0.820476 NA 1 0.767093 0.8931 NA 0.797 NA 7.0978404 942 11 124440617 124440617 C T exonic OR8A1 NA nonsynonymous SNV OR8A1:NM_001005194:exon1:c.C653T:p.S218L exonic ENSG00000196119 NA nonsynonymous SNV ENSG00000196119:ENST00000284287:exon1:c.C653T:p.S218L NA NA 11q24.2 NA NA NA NA rs12792184 0.79 0.79 0.793 0.772564 0.7316 0.8929 0.7651 0.7375 0.7434 0.73 0.91 0.76 0.8 0.7606 0.91 0.46 T 0.0 B 0.0 B 0.777 N 1.000 P -0.29 N 8.89 T -0.903 T 0.000 T 0.036 -0.925 0.389 5.03 0.930 1.166 7.381 -0.924621 NA 0.57 0.745755 0.760336 NA 0.826 NA 7.0953784 942 5 148206917 148206917 C A exonic ADRB2 NA synonymous SNV ADRB2:NM_000024:exon1:c.C523A:p.R175R exonic ENSG00000169252 NA synonymous SNV ENSG00000169252:ENST00000305988:exon1:c.C523A:p.R175R Score=568;Name=lod=272 NA 5q32 Score=767;Name=V$MIF1_01 NA NA NA rs1042718 0.27 0.27 0.295 0.297724 0.169 0.369 0.2882 0.3381 0.3088 0.18 0.38 0.25 0.31 0.2326 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264643 NA NA 0.17 0.322061 NA 0.21 NA 7.0950666 942 2 197662526 197662526 T C exonic GTF3C3 NA nonsynonymous SNV GTF3C3:NM_001206774:exon2:c.A209G:p.N70S,GTF3C3:NM_012086:exon2:c.A209G:p.N70S exonic ENSG00000119041 NA nonsynonymous SNV ENSG00000119041:ENST00000263956:exon2:c.A209G:p.N70S,ENSG00000119041:ENST00000409364:exon2:c.A209G:p.N70S NA NA 2q33.1 NA NA NA NA rs11559078 0.09 0.09 0.087 0.115415 0.0775 0.0327 0.0735 0.1944 0.1626 0.08 0.04 0.09 0.15 0.0907 0.17 0.96 T 0.0 B 0.003 B 0.070 N 1.000 P 0.345 N 1.05 T -1.020 T 0.000 T 0.005 1.182 9.807 0.442 -0.055 -0.003 5.038 1.182136 NA 0.71 0.070116 0.170222 ID=COSM149034;OCCURENCE=1(stomach) 0.203 NA 7.0950174 943 11 1628965 1628965 G A exonic KRTAP5-3 NA synonymous SNV KRTAP5-3:NM_001012708:exon1:c.C651T:p.S217S exonic ENSG00000196224 NA synonymous SNV ENSG00000196224:ENST00000399685:exon1:c.C651T:p.S217S Score=412;Name=lod=63 NA 11p15.5 Score=921;Name=V$LMO2COM_01 NA Name=7 NA rs57186801 0.49 0.49 0.472 0.46266 0.5239 0.3889 0.4524 0.4962 0.4376 0.54 0.4 0.44 0.54 0.5033 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.115079 NA NA 0.545941 0.492961 NA 0.196 NA 7.0935256 943 15 68624290 68624290 G A exonic ITGA11 NA synonymous SNV ITGA11:NM_001004439:exon14:c.C1677T:p.D559D exonic ENSG00000137809 NA synonymous SNV ENSG00000137809:ENST00000315757:exon14:c.C1677T:p.D559D,ENSG00000137809:ENST00000423218:exon14:c.C1677T:p.D559D Score=493;Name=lod=135 NA 15q23 Score=956;Name=V$ATF6_01 NA NA NA rs2292745 0.26 0.26 0.212 0.272764 0.1869 0.5079 0.2882 0.0499 0.409 0.2 0.53 0.25 0.05 0.2369 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86617 NA NA 0.150048 0.068147 NA 0.13 NA 7.0928186 943 7 2290522 2290522 C T exonic NUDT1 NA synonymous SNV NUDT1:NM_002452:exon4:c.C357T:p.D119D,NUDT1:NM_198953:exon4:c.C357T:p.D119D,NUDT1:NM_198954:exon4:c.C426T:p.D142D,NUDT1:NM_198948:exon5:c.C357T:p.D119D,NUDT1:NM_198949:exon5:c.C426T:p.D142D,NUDT1:NM_198950:exon5:c.C357T:p.D119D,NUDT1:NM_198952:exon5:c.C426T:p.D142D exonic ENSG00000106268 NA synonymous SNV ENSG00000106268:ENST00000339737:exon4:c.C357T:p.D119D,ENSG00000106268:ENST00000343985:exon4:c.C426T:p.D142D,ENSG00000106268:ENST00000356714:exon4:c.C357T:p.D119D,ENSG00000106268:ENST00000397046:exon5:c.C357T:p.D119D,ENSG00000106268:ENST00000397048:exon5:c.C426T:p.D142D,ENSG00000106268:ENST00000397049:exon5:c.C426T:p.D142D Score=449;Name=lod=89 NA 7p22.3 Score=806;Name=V$CMYB_01 NA NA NA rs1799832 0.15 0.15 0.147 0.148962 0.2087 0.0625 0.2061 0.0968 0.2065 0.2 0.08 0.21 0.1 0.1767 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.99694 NA NA 0.188837 0.115751 NA 0.101 NA 7.0924296 943 6 17688693 17688693 C T exonic NUP153 NA nonsynonymous SNV NUP153:NM_005124:exon2:c.G268A:p.D90N exonic ENSG00000124789 NA nonsynonymous SNV ENSG00000124789:ENST00000262077:exon2:c.G268A:p.D90N,ENSG00000124789:ENST00000537253:exon2:c.G268A:p.D90N NA NA 6p22.3 NA NA NA NA rs16879902 0.06 0.06 0.052 0.061901 0.0636 0.0704 0.1095 0.0166 0.0787 0.06 0.06 0.1 0.02 0.0866 0.1 0.93 T 0.026 B 0.007 B 0.003 N 1.000 P 1.245 L 3.2 T -0.908 T 0.005 T 0.046 -0.504 1.689 1.34 -0.060 -0.108 7.985 -0.50448 NA 0.57 0.091279 0.034271 NA 0.051 NA 7.0918544 943 14 24769663 24769663 T G exonic NOP9 NA synonymous SNV NOP9:NM_174913:exon2:c.T297G:p.A99A exonic ENSG00000196943 NA synonymous SNV ENSG00000196943:ENST00000267425:exon2:c.T297G:p.A99A,ENSG00000196943:ENST00000396802:exon2:c.T297G:p.A99A Score=507;Name=lod=154 NA 14q12 NA Name=ZNF263 NA NA rs11158632 0.15 0.15 0.133 0.150359 0.1849 0.004 0.3473 0.1581 0.1155 0.2 0.01 0.3 0.15 0.1835 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.679381 1.679381 NA 0.206977 0.167045 NA 0.13 NA 7.0912896 943 21 46057548 46057548 A C exonic KRTAP10-10 NA nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A214C:p.T72P exonic ENSG00000221859 NA nonsynonymous SNV ENSG00000221859:ENST00000380095:exon1:c.A214C:p.T72P NA NA 21q22.3 NA Name=CTCF NA NA rs4818947 0.77 0.77 0.744 0.778355 0.7704 0.6786 0.7464 0.8744 0.7822 0.77 0.66 0.77 0.89 0.7504 0.89 1 T 0.0 B 0.0 B . . 1.000 P -2.45 N 5.48 T -1.061 T 0.000 T 0.088 -2.958 0.001 2.32 0.053 . 4.095 -2.957708 NA 1 0.722791 0.855197 NA 0.659 NA 7.0897424 943 10 96997820 96997820 A G exonic PDLIM1 NA synonymous SNV PDLIM1:NM_020992:exon7:c.T852C:p.Y284Y exonic ENSG00000107438 NA synonymous SNV ENSG00000107438:ENST00000329399:exon7:c.T852C:p.Y284Y Score=655;Name=lod=612 NA 10q23.33 NA NA Name=43 NA rs1049814 0.17 0.17 0.155 0.173123 0.1769 0.0724 0.2594 0.2073 0.1656 0.19 0.08 0.21 0.22 0.1986 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839557 NA NA 0.202907 0.186564 NA 0.246 NA 7.0882596 943 11 6502780 6502780 C A exonic TIMM10B NA synonymous SNV TIMM10B:NM_012192:exon1:c.C34A:p.R12R exonic ENSG00000132286,ENSG00000265264 NA synonymous SNV ENSG00000132286:ENST00000254616:exon1:c.C34A:p.R12R,ENSG00000265264:ENST00000464330:exon1:c.C34A:p.R12R,ENSG00000265264:ENST00000472836:exon1:c.C34A:p.R12R,ENSG00000132286:ENST00000530751:exon1:c.C34A:p.R12R,ENSG00000132286:ENST00000531462:exon1:c.C34A:p.R12R,ENSG00000132286:ENST00000533379:exon1:c.C34A:p.R12R Score=488;Name=lod=128 NA 11p15.4 NA Name=Pol2,SP1,Mxi1_(bHLH),PU.1,Pol2(phosphoS2),YY1_(C-20),TAF7_(SQ-8),TR4,E2F6,TAF1,SREBP1,GATA-1,E2F6_(H-50),ETS1,SP2_(SC-643),POU2F2,HMGN3,GABP,GTF2F1_(RAP-74),CHD2_(N-1250),Max,ELF1_(SC-631),Oct-2,YY1,Sin3Ak-20,Pol2-4H8,FOSL2,Nrf1,USF-1,TBP,IRF1,c-Myc,CCNT2,NFKB,HEY1,SREBP2,PAX5-N19,PAX5-C20 NA NA rs11555935 0.16 0.16 0.168 0.167133 0.1839 0.0327 0.1686 0.2118 0.227 0.19 0.04 0.15 0.24 0.2013 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321069 NA NA 0.194018 0.206724 NA 0.283 NA 7.0874486 943 11 65271832 65271832 C T ncRNA_exonic MALAT1 NA NA NA ncRNA_exonic ENSG00000251562 NA NA NA Score=580;Name=lod=303 NA 11q13.1 NA Name=Pol2-4H8,Egr-1,Pol2(b),GATA2_(CG2-96),USF-1,HEY1,BCLAF1_(M33-P5B11),TAF7_(SQ-8),Pol2,Pol2(phosphoS2),TAF1,CHD2_(N-1250),CEBPB Name=139 NA rs3200401 0.17 0.17 0.176 0.143171 0.2018 0.1766 0.1268 0.1074 0.1084 0.19 0.19 0.16 0.12 0.1659 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.860229 1.860229 NA 0.212022 0.136728 NA 0.123 NA 7.0869446 943 1 161161284 161161284 G C exonic ADAMTS4 NA nonsynonymous SNV ADAMTS4:NM_005099:exon9:c.C2158G:p.P720A exonic ENSG00000158859 NA nonsynonymous SNV ENSG00000158859:ENST00000367996:exon9:c.C2158G:p.P720A NA NA 1q23.3 NA NA NA NA rs41270041 0.07 0.07 0.076 0.0996406 0.0726 0.0665 0.0677 0.1157 0.1626 0.07 0.06 0.06 0.1 0.0934 0.12 0.06 T 0.001 B 0.01 B 0.018 N 1.000 P 0.695 N 0.8 T -1.076 T 0.027 T 0.061 -0.248 2.807 0.261 0.182 0.003 1.524 -0.247892 NA 0.14 0.08093 0.121425 NA 0.072 NA 7.0864034 943 8 82727569 82727569 T C exonic SNX16 NA synonymous SNV SNX16:NM_152837:exon4:c.A585G:p.E195E,SNX16:NM_152836:exon5:c.A672G:p.E224E,SNX16:NM_022133:exon6:c.A672G:p.E224E exonic ENSG00000104497 NA synonymous SNV ENSG00000104497:ENST00000353788:exon4:c.A585G:p.E195E,ENSG00000104497:ENST00000345957:exon5:c.A672G:p.E224E,ENSG00000104497:ENST00000396330:exon6:c.A672G:p.E224E Score=644;Name=lod=550 NA 8q21.13 Score=831;Name=V$COMP1_01 NA NA NA rs16909651 0.16 0.16 0.148 0.156949 0.1978 0.1974 0.147 0.0144 0.273 0.21 0.2 0.18 0.02 0.1973 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.356874 2.356874 NA 0.186047 0.043577 ID=COSM1458382;OCCURENCE=1(large_intestine) 0.116 NA 7.0855196 943 20 33586193 33586193 C T exonic MYH7B NA synonymous SNV MYH7B:NM_020884:exon33:c.C3969T:p.S1323S exonic ENSG00000078814 NA synonymous SNV ENSG00000078814:ENST00000262873:exon31:c.C3969T:p.S1323S NA NA 20q11.22 Score=887;Name=V$CREB_Q4 NA Name=9 NA rs3746436 0.16 0.16 0.187 0.171126 0.1938 0.1071 0.1311 0.1551 0.2638 0.2 0.12 0.15 0.16 0.1947 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786156 NA NA 0.192865 0.152254 NA 0.268 NA 7.0853016 944 9 116356529 116356529 C G exonic RGS3 NA nonsynonymous SNV RGS3:NM_144489:exon1:c.C330G:p.C110W exonic ENSG00000138835 NA nonsynonymous SNV ENSG00000138835:ENST00000462403:exon1:c.C330G:p.C110W NA NA 9q32 NA Name=CTCF,TAF1,TAF7_(SQ-8),NRSF,Pol2,HEY1,Pol2(b),Pol2-4H8 NA NA rs10817493 0.83 0.83 0.822 0.835863 0.7376 0.9881 0.8127 0.8048 0.8384 0.73 0.99 0.8 0.82 0.7857 0.99 0.09 T 0.0 B 0.0 B . . 1.000 P 0 N 0.27 T -0.987 T 0.000 T 0.024 -2.721 0 -3.7 -0.367 0.721 0.421 -2.721434 NA 1 0.725105 0.784189 NA 0.783 NA 7.0849284 944 11 130784488 130784488 A G exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon1:c.T1347C:p.I449I exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon1:c.T1347C:p.I449I,ENSG00000120451:ENST00000533214:exon1:c.T1347C:p.I449I Score=428;Name=lod=73 NA 11q24.3 Score=859;Name=V$NFE2_01 NA NA NA rs61734874 0.14 0.14 0.149 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 0.1752 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136558 NA NA 0.208052 0.071558 NA 0.217 NA 7.0846146 944 12 52635360 52635360 G A exonic KRT7 NA synonymous SNV KRT7:NM_005556:exon5:c.G798A:p.A266A exonic ENSG00000135480 NA synonymous SNV ENSG00000135480:ENST00000331817:exon5:c.G798A:p.A266A Score=385;Name=lod=49 NA 12q13.13 Score=823;Name=V$HNF4_01_B Name=CTCF,CTCF_(SC-5916) NA NA rs999665 0.41 0.41 0.425 0.423722 0.5378 0.3145 0.4366 0.3714 0.4806 0.54 0.29 0.43 0.35 0.4941 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589422 NA NA 0.551047 0.424648 ID=COSM147517;OCCURENCE=1(stomach) 0.413 NA 7.0837196 944 14 51383432 51383432 G A exonic PYGL NA synonymous SNV PYGL:NM_001163940:exon8:c.C918T:p.D306D,PYGL:NM_002863:exon9:c.C1020T:p.D340D exonic ENSG00000100504 NA synonymous SNV ENSG00000100504:ENST00000544180:exon8:c.C918T:p.D306D,ENSG00000100504:ENST00000216392:exon9:c.C1020T:p.D340D,ENSG00000100504:ENST00000532462:exon9:c.C1020T:p.D340D Score=512;Name=lod=160 NA 14q22.1 NA NA NA Score=62;Name=711483_0_+_62 rs2075643 0.25 0.25 0.226 0.235423 0.1829 0.4365 0.3501 0.0431 0.2607 0.19 0.44 0.34 0.06 0.2253 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.357268 1.357268 NA 0.174767 0.066727 NA 0.159 NA 7.0836996 944 12 25242595 25242595 C G exonic LRMP NA nonsynonymous SNV LRMP:NM_001204126:exon10:c.C421G:p.L141V,LRMP:NM_001204127:exon10:c.C421G:p.L141V,LRMP:NM_006152:exon11:c.C421G:p.L141V exonic ENSG00000118308 NA nonsynonymous SNV ENSG00000118308:ENST00000536173:exon7:c.C262G:p.L88V,ENSG00000118308:ENST00000547044:exon10:c.C421G:p.L141V,ENSG00000118308:ENST00000548766:exon10:c.C421G:p.L141V,ENSG00000118308:ENST00000354454:exon11:c.C421G:p.L141V,ENSG00000118308:ENST00000361433:exon11:c.C421G:p.L141V Score=385;Name=lod=49 NA 12p12.1 NA NA NA NA rs7969931 0.74 0.74 0.752 0.735423 0.7416 0.8968 0.7594 0.5832 0.7515 0.73 0.87 0.76 0.61 0.7455 0.87 1 T 0.009 B 0.003 B 0.142 N 1.000 P 0 N 2.55 T -0.981 T 0.000 T 0.059 0.357 5.936 4.3 0.891 0.925 7.240 0.356803 NA 0.83 0.763488 0.609623 NA 0.616 NA 7.0827454 944 1 1991014 1991014 A G exonic PRKCZ NA synonymous SNV PRKCZ:NM_002744:exon4:c.A318G:p.P106P exonic ENSG00000067606 NA synonymous SNV ENSG00000067606:ENST00000468310:exon3:c.A228G:p.P76P,ENSG00000067606:ENST00000378567:exon4:c.A318G:p.P106P,ENSG00000067606:ENST00000503297:exon4:c.A180G:p.P60P Score=389;Name=lod=51 NA 1p36.33 NA Name=GABP NA NA rs1878745 0.24 0.24 0.208 0.23762 0.1928 0.4752 0.2032 0.0719 0.2873 0.18 0.48 0.2 0.09 0.2079 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816307 NA NA 0.184535 0.091693 ID=COSM146379,COSM146380;OCCURENCE=1(stomach) 0.188 NA 7.0814316 944 13 43597706 43597706 C T UTR5 DNAJC15 NM_013238:c.-57C>T NA NA UTR5 ENSG00000120675 ENST00000379221:c.-57C>T NA NA Score=313;Name=lod=25 NA 13q14.11 NA Name=Pol2(b),HNF4A_(H-171),Egr-1,YY1,Pol2-4H8,HA-E2F1,NFKB,c-Myc,PAX5-C20,TBP,TAF1,ZBTB33,HNF4A,TCF4,NRSF,Pol2,YY1_(C-20),ELF1_(SC-631),HNF4G_(SC-6558) Name=140 NA rs17553284 0.15 0.15 0.129 0.117412 0.2525 0.0843 0.1859 0.0129 0.1053 0.26 0.09 0.19 0.02 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81017 NA NA NA NA NA 0.087 NA 7.0808334 944 3 180334623 180334623 C T exonic CCDC39 NA synonymous SNV CCDC39:NM_181426:exon17:c.G2397A:p.V799V exonic ENSG00000145075 NA synonymous SNV ENSG00000145075:ENST00000442201:exon17:c.G2397A:p.V799V Score=435;Name=lod=78 NA 3q26.33 Score=813;Name=V$FREAC3_01 NA NA NA rs7612917 0.15 0.15 0.114 0.13139 0.2147 0.002 0.2061 0.1536 0.0961 0.23 NA 0.2 0.16 0.1764 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104073 NA NA 0.195449 0.15124 NA 0.174 NA 7.0801176 944 8 145059425 145059425 T C exonic PARP10 NA nonsynonymous SNV PARP10:NM_032789:exon5:c.A745G:p.I249V exonic ENSG00000178685 NA nonsynonymous SNV ENSG00000178685:ENST00000313059:exon4:c.A490G:p.I164V,ENSG00000178685:ENST00000525773:exon4:c.A781G:p.I261V,ENSG00000178685:ENST00000313028:exon5:c.A745G:p.I249V,ENSG00000178685:ENST00000524918:exon5:c.A745G:p.I249V,ENSG00000178685:ENST00000527262:exon5:c.A745G:p.I249V NA NA 8q24.3 NA NA NA NA rs11136344 0.38 0.38 0.401 0.391174 0.4314 0.1458 0.2795 0.6165 0.3773 0.42 0.15 0.32 0.63 0.3994 0.63 1 T 0.0 B 0.0 B 0.328 N 1.000 P -1.445 N 3.15 T -0.975 T 0.000 T 0.14 -2.465 0.003 -0.575 -0.436 -1.973 3.492 -2.464539 NA 1 0.423256 0.596459 NA 0.391 NA 7.0792774 944 5 32090294 32090294 G A exonic PDZD2 NA nonsynonymous SNV PDZD2:NM_178140:exon19:c.G6740A:p.R2247Q exonic ENSG00000133401 NA nonsynonymous SNV ENSG00000133401:ENST00000282493:exon19:c.G6740A:p.R2247Q,ENSG00000133401:ENST00000438447:exon20:c.G6740A:p.R2247Q NA NA 5p13.3 NA NA NA NA rs10066063 0.12 0.12 0.105 0.116014 0.0746 0.2351 0.1412 0.0431 0.1166 0.07 0.26 0.11 0.04 0.0924 0.26 0.65 T 0.026 B 0.005 B 0.859 N 1.000 P 0.805 L 3.41 T -0.905 T 0.000 T 0.016 -0.585 1.375 0.432 0.145 0.560 3.709 -0.584903 NA 1 0.089186 0.054698 NA 0.072 NA 7.0771474 944 19 4216910 4216910 G A exonic ANKRD24 NA nonsynonymous SNV ANKRD24:NM_133475:exon18:c.G1753A:p.E585K exonic ENSG00000089847 NA nonsynonymous SNV ENSG00000089847:ENST00000262970:exon16:c.G2023A:p.E675K,ENSG00000089847:ENST00000597689:exon16:c.G1666A:p.E556K,ENSG00000089847:ENST00000318934:exon17:c.G1753A:p.E585K,ENSG00000089847:ENST00000600132:exon18:c.G1753A:p.E585K NA NA 19p13.3 NA Name=Egr-1,BAF155 NA NA rs10413818 0.73 0.73 0.744 0.711661 0.7386 0.8006 0.7896 0.5484 0.7577 0.74 0.81 0.78 0.57 0.7513 0.81 0.36 T 0.053 B 0.008 B 0.020 N 1.000 P 0 N 1.1 T -0.965 T 0.000 T 0.054 0.712 7.795 -2.9 -0.490 0.170 9.384 0.712444 NA 0.07 0.767081 0.635386 NA 0.58 NA 7.0763524 944 17 39883672 39883672 G A intronic HAP1 NA NA NA exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000310778:exon9:c.C1309T:p.R437W Score=371;Name=lod=43 NA 17q21.2 NA NA NA NA rs11867808 0.27 0.27 0.283 0.249002 0.3956 0.1667 0.2378 0.2534 0.1851 0.38 0.13 0.28 0.23 0.3045 0.39 0 D 0.005 B 0.003 B . . 0.000 P . . 2.19 T -0.942 T 0.000 T 0.262 0.804 8.23 1.24 0.015 0.626 5.629 0.80438 NA NA 0.390349 0.275306 NA 0.319 NA 7.0762177 944 11 126278075 126278075 C T exonic ST3GAL4 NA synonymous SNV ST3GAL4:NM_001254759:exon5:c.C420T:p.Y140Y,ST3GAL4:NM_001254757:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_001254758:exon7:c.C423T:p.Y141Y,ST3GAL4:NM_006278:exon7:c.C411T:p.Y137Y exonic ENSG00000110080 NA nonsynonymous SNV ENSG00000110080:ENST00000531217:exon6:c.C362T:p.T121M Score=510;Name=lod=158 NA 11q24.2 Score=920;Name=V$HOXA3_01 NA NA NA rs2230279 0.38 0.38 0.342 0.344848 0.3101 0.5079 0.3256 0.3623 0.2025 0.31 0.49 0.32 0.39 0.3139 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.100962 NA NA 0.300372 0.351204 NA 0.471 NA 7.075628 944 13 75876389 75876389 G A exonic TBC1D4 NA synonymous SNV TBC1D4:NM_014832:exon16:c.C2901T:p.L967L exonic ENSG00000136111 NA synonymous SNV ENSG00000136111:ENST00000377625:exon14:c.C2712T:p.L904L,ENSG00000136111:ENST00000425511:exon15:c.C393T:p.L131L,ENSG00000136111:ENST00000431480:exon15:c.C2877T:p.L959L,ENSG00000136111:ENST00000377636:exon16:c.C2901T:p.L967L NA NA 13q22.2 NA Name=p300,FOXA2_(SC-6554),FOXA1_(SC-101058),GATA3_(SC-268),TCF4,HDAC2_(SC-6296),FOXA1_(C-20) Name=18 NA rs2297208 0.39 0.39 0.392 0.369209 0.5527 0.1528 0.4986 0.2927 0.4151 0.56 0.16 0.49 0.3 0.4911 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766852 NA NA 0.547579 0.341826 NA 0.464 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118590.2;CLNDSDB=.;CLNDSDBID=. 7.0752876 945 15 90245174 90245174 T A exonic WDR93 NA nonsynonymous SNV WDR93:NM_020212:exon2:c.T197A:p.L66H exonic ENSG00000140527 NA nonsynonymous SNV ENSG00000140527:ENST00000268130:exon2:c.T197A:p.L66H,ENSG00000140527:ENST00000558000:exon2:c.T197A:p.L66H,ENSG00000140527:ENST00000560294:exon2:c.T197A:p.L66H NA NA 15q26.1 Score=884;Name=V$TAL1ALPHAE47_01 NA NA NA rs4287542 0.36 0.36 0.372 0.391973 0.4026 0.2063 0.3617 0.5061 0.4397 0.4 0.22 0.39 0.44 0.4089 0.5 0.59 T 0.043 B 0.022 B 0.235 N 1.000 P 0.255 N 1.97 T -0.927 T 0.000 T 0.151 -0.513 1.654 0.074 0.039 -0.054 1.699 -0.513158 NA 0.3 0.447546 0.486591 NA 0.522 NA 7.0742874 945 17 1795180 1795180 T C exonic RPA1 NA synonymous SNV RPA1:NM_002945:exon15:c.T1605C:p.S535S exonic ENSG00000132383 NA synonymous SNV ENSG00000132383:ENST00000574049:exon6:c.T696C:p.S232S,ENSG00000132383:ENST00000254719:exon15:c.T1605C:p.S535S Score=575;Name=lod=290 NA 17p13.3 Score=864;Name=V$STAT5A_01 NA NA NA rs2230931 0.25 0.25 0.228 0.29393 0.1799 0.252 0.304 0.3654 0.3507 0.17 0.25 0.27 0.36 0.2344 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.271232 1.271232 NA 0.178256 0.355651 NA 0.225 NA 7.0741106 945 1 160062472 160062472 C T exonic IGSF8 NA synonymous SNV IGSF8:NM_052868:exon5:c.G1326A:p.E442E,IGSF8:NM_001206665:exon6:c.G1326A:p.E442E exonic ENSG00000162729 NA synonymous SNV ENSG00000162729:ENST00000314485:exon5:c.G1326A:p.E442E,ENSG00000162729:ENST00000368086:exon5:c.G1326A:p.E442E Score=410;Name=lod=62 NA 1q23.2 Score=860;Name=V$ZID_01 NA NA NA rs2295622 0.17 0.17 0.133 0.154553 0.1869 0.2252 0.2507 0.0189 0.1636 0.19 0.21 0.22 0.03 0.2091 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207111 NA NA 0.197237 0.040812 NA 0.283 NA 7.0734296 945 3 173997153 173997153 G A exonic NLGN1 NA synonymous SNV NLGN1:NM_014932:exon6:c.G1362A:p.K454K exonic ENSG00000169760 NA synonymous SNV ENSG00000169760:ENST00000545397:exon4:c.G1362A:p.K454K,ENSG00000169760:ENST00000361589:exon5:c.G1362A:p.K454K,ENSG00000169760:ENST00000401917:exon6:c.G1482A:p.K494K,ENSG00000169760:ENST00000457714:exon6:c.G1362A:p.K454K Score=778;Name=lod=1933 NA 3q26.31 Score=858;Name=V$FOXJ2_02 NA NA NA rs7646919 0.17 0.17 0.169 0.188299 0.1978 0.0933 0.1441 0.2421 0.2352 0.2 0.09 0.17 0.24 0.2001 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275898 NA NA 0.195349 0.238765 ID=COSM1420692;OCCURENCE=1(large_intestine) 0.275 NA 7.0734176 945 10 129907489 129907489 G A exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.C1535T:p.A512V,MKI67:NM_002417:exon13:c.C2615T:p.A872V exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.C1535T:p.A512V,ENSG00000148773:ENST00000368654:exon13:c.C2615T:p.A872V NA NA 10q26.2 NA NA NA NA rs2853344 0.04 0.04 0.04 0.038139 0.0944 NA 0.0605 0.0008 0.0542 0.09 0.0017 0.05 0.0041 0.068 0.098 0.67 T 0.001 B 0.002 B 0.096 N 1.000 P 0.205 N 5.07 T -0.919 T 0.000 T 0.027 -1.571 0.014 -0.808 -0.602 0.308 4.370 -1.571386 NA 1 0.098023 0.018611 NA 0.051 NA 7.0729104 945 2 135711657 135711657 G A exonic CCNT2 NA synonymous SNV CCNT2:NM_001241:exon9:c.G1632A:p.K544K,CCNT2:NM_058241:exon9:c.G1632A:p.K544K exonic ENSG00000082258 NA synonymous SNV ENSG00000082258:ENST00000264157:exon9:c.G1632A:p.K544K,ENSG00000082258:ENST00000295238:exon9:c.G1632A:p.K544K,ENSG00000082258:ENST00000537343:exon10:c.G1107A:p.K369K Score=640;Name=lod=534 NA 2q21.3 Score=859;Name=V$IK1_01 Name=PU.1 NA NA rs3814354 0.69 0.69 0.706 0.702077 0.5457 0.877 0.6225 0.6641 0.7904 0.53 0.9 0.64 0.72 0.58 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620655 NA NA 0.468256 0.636178 ID=COSM1179790,COSM1399489;OCCURENCE=1(prostate),1(large_intestine) 0.558 NA 7.0727106 945 10 73537978 73537978 C T exonic CDH23 NA synonymous SNV CDH23:NM_022124:exon38:c.C5100T:p.Y1700Y exonic ENSG00000107736 NA synonymous SNV ENSG00000107736:ENST00000224721:exon39:c.C5115T:p.Y1705Y Score=551;Name=lod=232 NA 10q22.1 NA NA NA NA rs10762480 0.18 0.18 0.17 0.179313 0.2097 0.2004 0.1556 0.1755 0.1483 0.21 0.18 0.14 0.18 0.188 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119096 NA NA 0.196543 0.184198 ID=COSM427855;OCCURENCE=1(breast) 0.116 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039199.1|RCV000124199.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.0724236 945 12 6030302 6030302 T C exonic ANO2 NA synonymous SNV ANO2:NM_020373:exon3:c.A426G:p.G142G exonic ENSG00000047617 NA synonymous SNV ENSG00000047617:ENST00000327087:exon3:c.A426G:p.G142G,ENSG00000047617:ENST00000356134:exon3:c.A426G:p.G142G,ENSG00000047617:ENST00000546188:exon3:c.A426G:p.G142G Score=304;Name=lod=23 NA 12p13.31 Score=727;Name=V$PPARG_01 NA NA NA rs3741902 0.16 0.16 0.115 0.147364 0.2147 0.1855 0.1427 0.0363 0.1922 0.21 0.18 0.17 0.03 0.1768 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200224 NA NA 0.202975 0.072732 NA 0.08 NA 7.0721916 945 7 43540887 43540887 A C exonic HECW1 NA synonymous SNV HECW1:NM_015052:exon21:c.A3597C:p.R1199R exonic ENSG00000002746 NA synonymous SNV ENSG00000002746:ENST00000453890:exon19:c.A3495C:p.R1165R,ENSG00000002746:ENST00000395891:exon21:c.A3597C:p.R1199R Score=663;Name=lod=659 NA 7p13 Score=843;Name=V$GR_Q6 NA NA NA rs17339479 0.12 0.12 0.107 0.116414 0.2068 0.0079 0.1499 0.0696 0.1748 0.22 0.01 0.18 0.06 0.1849 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910207 NA NA 0.20303 0.076346 ID=COSM1131579;OCCURENCE=1(prostate) 0.174 NA 7.0719366 945 7 149517978 149517978 G T exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon87:c.G12321T:p.Q4107H ncRNA_exonic ENSG00000197558 NA NA NA Score=452;Name=lod=92 NA 7q36.1 Score=801;Name=V$PAX5_02 NA NA NA rs12536873 0.16 0.16 0.141 0.145168 0.1372 0.2361 0.1383 0.1324 0.0818 0.13 0.22 0.13 0.15 0.1472 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129975 NA 0.01 0.143769 0.132783 ID=COSN231373;OCCURENCE=1(skin) 0.188 NA 7.071831 945 16 75646576 75646576 G T exonic ADAT1 NA nonsynonymous SNV ADAT1:NM_012091:exon7:c.C608A:p.T203N exonic ENSG00000065457 NA nonsynonymous SNV ENSG00000065457:ENST00000307921:exon7:c.C608A:p.T203N NA NA 16q23.1 NA NA NA NA rs3743599 0.26 0.26 0.228 0.266174 0.0427 0.6935 0.3444 0.0068 0.3507 0.04 0.73 0.31 0.01 0.1672 0.73 0.49 T 0.326 B 0.091 B 0.000 U 1.000 P 1.845 L 2.58 T -0.948 T 0.000 T 0.063 0.025 4.141 0.828 0.292 0.070 3.318 0.024573 NA 0.75 0.052093 0.020018 NA 0.138 NA 7.0713404 945 20 33578251 33578251 A G ncRNA_exonic MIR499A,MIR499B NA NA NA ncRNA_exonic ENSG00000207635 NA NA NA Score=628;Name=lod=475 NA 20q11.22 Score=839;Name=V$FOXO1_02 NA NA Score=243;Name=1420973_0_+_243 rs3746444 0.18 0.18 0.186 0.183506 0.1938 0.1448 0.134 0.1694 0.2669 0.2 0.17 0.16 0.18 0.2013 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.757965 2.757965 NA 0.201145 0.181441 NA 0.29 NA 7.0704216 945 12 53294381 53294381 T C exonic KRT8 NA synonymous SNV KRT8:NM_002273:exon4:c.A681G:p.L227L,KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_001256293:exon5:c.A681G:p.L227L exonic ENSG00000170421 NA synonymous SNV ENSG00000170421:ENST00000547176:exon2:c.A171G:p.L57L,ENSG00000170421:ENST00000293308:exon4:c.A681G:p.L227L,ENSG00000170421:ENST00000546900:exon4:c.A330G:p.L110L,ENSG00000170421:ENST00000546897:exon5:c.A681G:p.L227L,ENSG00000170421:ENST00000552150:exon5:c.A765G:p.L255L,ENSG00000170421:ENST00000552551:exon5:c.A681G:p.L227L,ENSG00000170421:ENST00000546826:exon6:c.A681G:p.L227L,ENSG00000170421:ENST00000548998:exon6:c.A801G:p.L267L Score=539;Name=lod=207 NA 12q13.13 NA Name=Pol2 NA NA rs8608 0.54 0.54 0.542 0.567492 0.5318 0.6042 0.6182 0.3986 0.7587 0.51 0.64 0.57 0.46 0.553 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286947 NA NA 0.511512 0.435769 NA 0.399 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056941.1;CLNDSDB=.;CLNDSDBID=. 7.0703546 945 9 27556780 27556780 G A exonic C9orf72 NA synonymous SNV C9orf72:NM_001256054:exon8:c.C870T:p.S290S,C9orf72:NM_018325:exon8:c.C870T:p.S290S exonic ENSG00000147894 NA synonymous SNV ENSG00000147894:ENST00000380003:exon8:c.C870T:p.S290S Score=582;Name=lod=310 Name=Amyotrophic lateral sclerosis 9p21.2 NA NA NA NA rs10122902 0.21 0.21 0.197 0.226438 0.162 0.3016 0.2781 0.1513 0.2802 0.16 0.31 0.25 0.16 0.2362 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011093 NA NA 0.198721 0.19133 NA 0.225 NA 7.0697456 945 7 154672646 154672646 T C exonic DPP6 NA synonymous SNV DPP6:NM_001039350:exon21:c.T1935C:p.F645F,DPP6:NM_001936:exon21:c.T1941C:p.F647F,DPP6:NM_130797:exon21:c.T2127C:p.F709F exonic ENSG00000130226 NA synonymous SNV ENSG00000130226:ENST00000427557:exon19:c.T1806C:p.F602F,ENSG00000130226:ENST00000332007:exon21:c.T1941C:p.F647F,ENSG00000130226:ENST00000377770:exon21:c.T2127C:p.F709F,ENSG00000130226:ENST00000404039:exon21:c.T1935C:p.F645F Score=474;Name=lod=113 NA 7q36.2 Score=950;Name=V$LYF1_01 NA NA NA rs3817522 0.26 0.26 0.231 0.264976 0.1879 0.1002 0.3963 0.4902 0.1166 0.18 0.13 0.36 0.45 0.2303 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793712 NA NA 0.178875 0.417963 NA 0.232 NA 7.0695916 945 6 150342232 150342232 G A exonic RAET1L NA nonsynonymous SNV RAET1L:NM_130900:exon3:c.C440T:p.T147I exonic ENSG00000155918 NA nonsynonymous SNV ENSG00000155918:ENST00000286380:exon3:c.C440T:p.T147I,ENSG00000155918:ENST00000367341:exon3:c.C440T:p.T147I NA NA 6q25.1 NA NA NA NA rs2282236 0.34 0.34 0.339 0.329073 0.4394 0.2401 0.2925 0.3033 0.3681 0.45 0.22 0.34 0.31 0.3789 0.45 0.32 T 0.001 B 0.002 B . . 1.000 P -0.255 N 5.79 T -1.036 T 0.000 T 0.043 -2.509 0.003 -0.819 -0.646 -1.278 2.170 -2.509455 NA 0.87 0.446395 0.312074 NA 0.312 NA 7.0686384 945 8 24261526 24261526 A G exonic ADAMDEC1 NA nonsynonymous SNV ADAMDEC1:NM_001145272:exon12:c.A1094G:p.N365S,ADAMDEC1:NM_014479:exon13:c.A1331G:p.N444S,ADAMDEC1:NM_001145271:exon14:c.A1094G:p.N365S exonic ENSG00000134028 NA nonsynonymous SNV ENSG00000134028:ENST00000522298:exon12:c.A1094G:p.N365S,ENSG00000134028:ENST00000256412:exon13:c.A1331G:p.N444S,ENSG00000134028:ENST00000538205:exon14:c.A1094G:p.N365S NA NA 8p21.2 NA NA NA NA rs3765124 0.29 0.29 0.268 0.294928 0.4284 0.2044 0.4553 0.0968 0.4049 0.43 0.21 0.42 0.09 0.3941 0.44 0.39 T 0.929 P 0.458 P 0.146 N 1.000 P 1.54 L 2.76 T -0.902 T 0.000 T 0.02 1.119 9.564 0.414 -0.144 0.317 8.043 1.119311 NA 0 0.442326 0.153654 NA 0.21 NA 7.0685074 945 5 79351735 79351735 C T exonic THBS4 NA synonymous SNV THBS4:NM_003248:exon3:c.C420T:p.S140S exonic ENSG00000113296 NA synonymous SNV ENSG00000113296:ENST00000350881:exon3:c.C420T:p.S140S,ENSG00000113296:ENST00000511733:exon3:c.C147T:p.S49S NA NA 5q14.1 NA Name=EBF Name=12 NA rs423906 0.26 0.26 0.246 0.283546 0.1988 0.2183 0.3127 0.3714 0.2986 0.19 0.24 0.3 0.37 0.2243 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756898 NA NA 0.175465 0.350431 NA 0.188 NA 7.0681016 945 4 69095197 69095197 T C exonic TMPRSS11B NA nonsynonymous SNV TMPRSS11B:NM_182502:exon8:c.A724G:p.I242V exonic ENSG00000185873 NA nonsynonymous SNV ENSG00000185873:ENST00000332644:exon8:c.A724G:p.I242V NA NA 4q13.2 NA NA NA NA rs12331141 0.72 0.72 0.698 0.718051 0.7306 0.9901 0.6023 0.4297 0.8967 0.73 0.99 0.65 0.42 0.7564 0.99 0.52 T 0.003 B 0.008 B 0.482 N 1.000 P 0.375 N -2.44 D -1.000 T 0.000 T 0.058 -1.661 0.012 0.639 0.042 1.437 4.989 -1.661019 NA 1 0.778721 0.522696 NA 0.696 NA 7.0676124 945 2 113404708 113404708 G A exonic SLC20A1 NA synonymous SNV SLC20A1:NM_005415:exon2:c.G303A:p.L101L exonic ENSG00000144136 NA synonymous SNV ENSG00000144136:ENST00000272542:exon2:c.G303A:p.L101L Score=450;Name=lod=90 NA 2q13 NA Name=Pol2,Pbx3,Pol2-4H8,Pol2(b) Name=73 NA rs4849091 0.36 0.36 0.338 0.360623 0.5497 0.2202 0.4481 0.1573 0.5235 0.55 0.2 0.49 0.14 0.492 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422845 NA NA 0.558953 0.20926 NA 0.449 NA 7.0660136 945 17 80159665 80159665 G A exonic CCDC57 NA synonymous SNV CCDC57:NM_198082:exon2:c.C156T:p.C52C exonic ENSG00000176155 NA synonymous SNV ENSG00000176155:ENST00000389641:exon2:c.C156T:p.C52C,ENSG00000176155:ENST00000392347:exon2:c.C156T:p.C52C,ENSG00000176155:ENST00000392343:exon3:c.C156T:p.C52C NA NA 17q25.3 NA Name=ZNF263 Name=6 NA rs11653797 0.13 0.13 0.13 0.111022 0.1998 0.0565 0.1268 0.0552 0.1401 0.21 0.07 0.15 0.05 0.1785 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296867 NA NA 0.222444 0.094993 NA 0.145 NA 7.0659226 945 7 88423881 88423881 T C exonic C7orf62 NA nonsynonymous SNV C7orf62:NM_152706:exon2:c.A376G:p.I126V exonic ENSG00000164645 NA nonsynonymous SNV ENSG00000164645:ENST00000297203:exon2:c.A376G:p.I126V NA NA 7q21.13 NA NA NA NA rs2293583 0.1 0.1 0.092 0.121605 0.0875 0.124 0.062 0.1051 0.2188 0.08 0.11 0.09 0.1 0.0998 0.11 0.34 T 0.021 B 0.013 B 0.182 N 1.000 P 1.52 L 2.44 T -1.027 T 0.001 T 0.052 -0.755 0.804 1.07 0.164 -0.033 5.376 -0.754563 NA 0.24 0.080349 0.110758 NA 0.123 NA 7.0656844 946 16 8953081 8953081 C G exonic CARHSP1 NA synonymous SNV CARHSP1:NM_001042476:exon2:c.G105C:p.R35R,CARHSP1:NM_014316:exon2:c.G105C:p.R35R exonic ENSG00000153048 NA nonsynonymous SNV ENSG00000153048:ENST00000568968:exon2:c.G131C:p.G44A Score=457;Name=lod=96 NA 16p13.2 Score=849;Name=V$ARNT_01 Name=Pol2 NA NA rs8097 0.59 0.59 0.565 0.569688 0.666 0.6597 0.5303 0.3449 0.7096 0.68 0.68 0.56 0.37 0.6285 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.7539 1.7539 NA 0.640581 0.38684 NA 0.565 NA 7.064919 946 1 178489978 178489978 T G exonic TEX35 NA nonsynonymous SNV TEX35:NM_001170722:exon7:c.T536G:p.L179R,TEX35:NM_001170723:exon7:c.T512G:p.L171R,TEX35:NM_001170724:exon7:c.T512G:p.L171R,TEX35:NM_032126:exon7:c.T512G:p.L171R exonic ENSG00000240021 NA nonsynonymous SNV ENSG00000240021:ENST00000258298:exon7:c.T284G:p.L95R,ENSG00000240021:ENST00000319416:exon7:c.T512G:p.L171R,ENSG00000240021:ENST00000367639:exon7:c.T536G:p.L179R,ENSG00000240021:ENST00000367641:exon7:c.T512G:p.L171R,ENSG00000240021:ENST00000367643:exon7:c.T512G:p.L171R NA NA 1q25.2 NA NA NA NA rs3813636 0.4 0.4 0.368 0.36901 0.4543 0.4077 0.4827 0.2247 0.3558 0.44 0.42 0.46 0.28 0.4016 0.48 0.18 T 0.95 P 0.698 P 0.732 N 1.000 P 1.525 L 1.74 T -0.932 T 0.000 T 0.297 2.283 13.59 1.82 0.743 0.068 5.125 2.283107 2.283107 0.03 0.412558 0.282796 NA 0.5 NA 7.0648754 946 7 138713476 138713476 C T exonic ZC3HAV1L NA nonsynonymous SNV ZC3HAV1L:NM_080660:exon3:c.G732A:p.M244I exonic ENSG00000146858 NA nonsynonymous SNV ENSG00000146858:ENST00000275766:exon3:c.G732A:p.M244I NA NA 7q34 NA NA NA NA rs17856272 0.05 0.05 0.045 0.0491214 0.0964 NA 0.0576 0.0408 0.0562 0.1 NA 0.06 0.04 0.0762 0.1 0.19 T 0.02 B 0.025 B 0.543 N 1.000 N 0.695 N 1.55 T -1.039 T 0.002 T 0.153 1.644 11.45 1.42 0.762 -0.187 5.448 1.643554 1.643554 0.23 0.096628 0.057422 NA 0.036 NA 7.0641054 946 7 44555406 44555406 G A exonic NPC1L1 NA synonymous SNV NPC1L1:NM_001101648:exon18:c.C3792T:p.Y1264Y,NPC1L1:NM_013389:exon19:c.C3873T:p.Y1291Y exonic ENSG00000015520 NA synonymous SNV ENSG00000015520:ENST00000546276:exon17:c.C3654T:p.Y1218Y,ENSG00000015520:ENST00000381160:exon18:c.C3792T:p.Y1264Y,ENSG00000015520:ENST00000289547:exon19:c.C3873T:p.Y1291Y Score=462;Name=lod=101 NA 7p13 NA NA Name=15 NA rs10264715 0.1 0.1 0.088 0.0806709 0.2087 0.005 0.1009 0.0265 0.0859 0.2 0.01 0.12 0.02 0.1686 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391682 NA NA 0.22686 0.055606 NA 0.072 NA 7.0625066 946 21 47836547 47836547 T C exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon30:c.T6715C:p.W2239R exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon30:c.T6715C:p.W2239R NA NA 21q22.3 NA NA NA NA rs35346764 0.16 0.16 0.148 0.18131 0.0924 0.004 0.0937 0.4977 0.09 0.1 0.0035 0.1 0.48 0.1054 0.48 0.7 T 0.0 B 0.0 B 0.730 N 1.000 P -0.69 N 4.92 T -1.014 T 0.000 T 0.013 -0.987 0.28 1.32 -0.164 -0.065 4.83 -0.986762 NA 0.77 0.073128 0.412905 NA 0.188 NA 7.0624054 946 19 3186085 3186085 G T exonic NCLN NA synonymous SNV NCLN:NM_020170:exon1:c.G57T:p.P19P exonic ENSG00000125912 NA synonymous SNV ENSG00000125912:ENST00000246117:exon1:c.G57T:p.P19P,ENSG00000125912:ENST00000588428:exon1:c.G57T:p.P19P Score=704;Name=lod=965 NA 19p13.3 NA Name=HEY1,c-Myc,CCNT2,Pol2-4H8,Sin3Ak-20,E2F6,Pol2,TAF1 Name=17 NA rs11551095 0.55 0.55 0.541 0.553315 0.5318 0.5238 0.5288 0.6006 0.5593 0.54 0.52 0.53 0.64 0.5434 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411455 1.411455 NA 0.52907 0.60236 ID=COSM439199;OCCURENCE=1(breast) 0.188 NA 7.0623966 946 10 116335246 116335246 G A exonic ABLIM1 NA synonymous SNV ABLIM1:NM_001003407:exon3:c.C312T:p.F104F,ABLIM1:NM_001003408:exon3:c.C312T:p.F104F,ABLIM1:NM_002313:exon3:c.C492T:p.F164F exonic ENSG00000099204 NA synonymous SNV ENSG00000099204:ENST00000277895:exon3:c.C492T:p.F164F,ENSG00000099204:ENST00000369252:exon3:c.C312T:p.F104F,ENSG00000099204:ENST00000369256:exon3:c.C312T:p.F104F,ENSG00000099204:ENST00000392955:exon3:c.C312T:p.F104F,ENSG00000099204:ENST00000533213:exon3:c.C312T:p.F104F Score=672;Name=lod=719 NA 10q25.3 Score=900;Name=V$P300_01 NA NA NA rs985273 0.28 0.28 0.287 0.304513 0.2078 0.2321 0.3602 0.475 0.2086 0.19 0.25 0.34 0.44 0.2178 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18683 NA NA 0.178721 0.439174 ID=COSM147052;OCCURENCE=1(stomach) 0.312 NA 7.0623456 946 19 44098963 44098963 C G exonic IRGQ NA synonymous SNV IRGQ:NM_001007561:exon2:c.G528C:p.R176R exonic ENSG00000167378 NA synonymous SNV ENSG00000167378:ENST00000602269:exon1:c.G528C:p.R176R,ENSG00000167378:ENST00000422989:exon2:c.G528C:p.R176R Score=389;Name=lod=51 NA 19q13.31 NA Name=CTCF,Rad21,ELF1_(SC-631),BCLAF1_(M33-P5B11),YY1_(C-20),Pol2,SMC3_(ab9263),E2F6_(H-50),TAF1,Znf143_(16618-1-AP),CTCFL_(SC-98982),CTCF_(C-20),ZEB1_(SC-25388),RFX5_(N-494),CTCF_(SC-5916),Egr-1 Name=137 NA rs304725 0.5 0.5 0.476 0.493211 0.5427 0.4911 0.5274 0.4017 0.544 0.52 0.51 0.55 0.41 0.5266 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.514502 1.514502 NA 0.535748 0.440909 NA 0.442 NA 7.0616186 946 21 47836122 47836122 T C exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon30:c.T6290C:p.L2097P exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon30:c.T6290C:p.L2097P NA NA 21q22.3 NA NA NA NA rs2839245 0.16 0.16 0.165 0.178115 0.0924 0.004 0.0937 0.4856 0.09 0.1 0.0035 0.1 0.47 0.1036 0.47 0.17 T 0.0 B 0.0 B 0.098 N 1.000 P -1.1 N 4.81 T -0.982 T 0.000 T 0.04 0.357 5.937 -1.49 -0.476 -0.830 0.442 0.35683 NA 0.05 0.075814 0.434181 NA 0.196 NA 7.0615194 946 21 47841941 47841941 A G exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon32:c.A7082G:p.Q2361R exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon32:c.A7082G:p.Q2361R NA NA 21q22.3 NA NA NA NA rs7277175 0.16 0.16 0.159 0.178514 0.0924 0.004 0.0937 0.4871 0.09 0.1 0.0035 0.1 0.47 0.1036 0.47 0.53 T 0.0 B 0.003 B . . 1.000 P 0 N 4.9 T -1.083 T 0.000 T 0.021 -1.133 0.115 1.33 -0.074 -0.075 7.842 -1.132788 NA 0.34 0.075814 0.434408 NA 0.188 NA 7.0615194 946 2 128393800 128393800 T C exonic MYO7B NA synonymous SNV MYO7B:NM_001080527:exon44:c.T5946C:p.Y1982Y exonic ENSG00000169994 NA synonymous SNV ENSG00000169994:ENST00000409090:exon20:c.T2505C:p.Y835Y,ENSG00000169994:ENST00000409816:exon43:c.T5946C:p.Y1982Y,ENSG00000169994:ENST00000389524:exon44:c.T5949C:p.Y1983Y,ENSG00000169994:ENST00000428314:exon44:c.T5946C:p.Y1982Y Score=440;Name=lod=82 NA 2q14.3 NA NA Name=3 NA rs2255161 0.17 0.17 0.173 0.21905 0.1968 0.1458 0.1369 0.1853 0.4213 0.2 0.16 0.15 0.15 0.2146 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518756 NA NA 0.194032 0.188627 NA 0.167 NA 7.0612346 946 21 47836395 47836395 T G exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon30:c.T6563G:p.M2188R exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon30:c.T6563G:p.M2188R NA NA 21q22.3 NA NA NA NA rs1044998 0.16 0.16 0.162 0.178315 0.0934 0.004 0.0937 0.4856 0.09 0.1 0.0035 0.1 0.47 0.1037 0.47 0.62 T 0.0 B 0.0 B 0.257 N 1.000 P -1.1 N 4.89 T -1.060 T 0.000 T 0.082 -1.14 0.11 -0.739 -0.403 0.113 1.699 -1.140387 NA 0.2 0.075814 0.433727 NA 0.196 NA 7.0604194 946 13 99907341 99907341 G A exonic GPR18 NA synonymous SNV GPR18:NM_001098200:exon2:c.C786T:p.N262N,GPR18:NM_005292:exon3:c.C786T:p.N262N exonic ENSG00000125245 NA synonymous SNV ENSG00000125245:ENST00000397470:exon2:c.C786T:p.N262N,ENSG00000125245:ENST00000340807:exon3:c.C786T:p.N262N,ENSG00000125245:ENST00000397473:exon3:c.C786T:p.N262N NA NA 13q32.3 Score=846;Name=V$GR_Q6 NA Name=3 NA rs3742130 0.12 0.12 0.12 0.108427 0.2217 0.0595 0.1499 0.0401 0.1053 0.21 0.05 0.18 0.04 0.1647 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.807317 NA NA 0.219884 0.082161 NA 0.087 NA 7.0603826 946 19 51960940 51960940 A G exonic SIGLEC8 NA nonsynonymous SNV SIGLEC8:NM_014442:exon2:c.T508C:p.S170P exonic ENSG00000105366 NA nonsynonymous SNV ENSG00000105366:ENST00000321424:exon2:c.T508C:p.S170P NA NA 19q13.41 NA NA NA NA rs10409962 0.21 0.21 0.196 0.229233 0.0795 0.1022 0.1527 0.5855 0.0869 0.09 0.09 0.16 0.56 0.1231 0.56 1 T 0.0 B 0.0 B 0.348 N 1.000 P -1.69 N 1.71 T -0.948 T 0.000 T 0.041 -1.781 0.01 0.336 0.008 -0.512 2.171 -1.781355 NA 1 0.071395 0.495461 ID=COSM148700;OCCURENCE=1(stomach) 0.261 NA 7.0593384 946 16 10775855 10775855 G A exonic TEKT5 NA synonymous SNV TEKT5:NM_144674:exon4:c.C858T:p.D286D exonic ENSG00000153060 NA synonymous SNV ENSG00000153060:ENST00000576638:exon3:c.C177T:p.D59D,ENSG00000153060:ENST00000283025:exon4:c.C858T:p.D286D Score=399;Name=lod=56 NA 16p13.13 Score=897;Name=V$CREB_01 NA NA NA rs12918646 0.3 0.3 0.25 0.294728 0.159 0.5446 0.4006 0.143 0.3067 0.2 0.52 0.35 0.14 0.2586 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431064 NA NA 0.19 0.16386 NA 0.304 NA 7.0590666 946 19 42265889 42265889 G T exonic CEACAM6 NA nonsynonymous SNV CEACAM6:NM_002483:exon4:c.G716T:p.G239V exonic ENSG00000086548 NA nonsynonymous SNV ENSG00000086548:ENST00000199764:exon4:c.G716T:p.G239V NA NA 19q13.2 NA NA NA NA rs11548735 0.55 0.55 0.559 0.549321 0.4056 0.5625 0.536 0.7526 0.4182 0.42 0.58 0.5 0.74 0.4574 0.74 0.25 T 0.0 B 0.0 B . . 1.000 P -0.41 N 2.95 T -1.057 T 0.000 T 0.02 -0.677 1.048 -1.6 -1.295 -0.235 4.184 -0.676735 NA 0.49 0.41186 0.68384 NA 0.449 NA 7.0584734 946 20 37396120 37396120 A G exonic ACTR5 NA nonsynonymous SNV ACTR5:NM_024855:exon8:c.A1447G:p.I483V exonic ENSG00000101442 NA nonsynonymous SNV ENSG00000101442:ENST00000243903:exon8:c.A1447G:p.I483V NA NA 20q11.23 NA NA NA NA rs2245231 0.42 0.42 0.431 0.433307 0.4245 0.4107 0.4337 0.4811 0.4008 0.42 0.41 0.38 0.48 0.4185 0.48 0.67 T 0.0 B 0.001 B 0.793 N 1.000 P 0.935 L -3.45 D -1.065 T 0.000 T 0.01 -1.793 0.01 -1.73 -0.376 0.095 9.610 -1.792507 NA 1 0.43186 0.460508 NA 0.384 NA 7.0584734 946 7 16655387 16655387 C T exonic ANKMY2 NA synonymous SNV ANKMY2:NM_020319:exon5:c.G513A:p.T171T exonic ENSG00000106524 NA synonymous SNV ENSG00000106524:ENST00000306999:exon5:c.G513A:p.T171T,ENSG00000106524:ENST00000447802:exon5:c.G513A:p.T171T Score=561;Name=lod=254 NA 7p21.1 Score=750;Name=V$PAX4_04 NA NA NA rs11540037 0.16 0.16 0.123 0.176318 0.1948 0.2173 0.1657 0.0681 0.2689 0.19 0.2 0.18 0.05 0.2048 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27958 NA NA 0.208721 0.095325 NA 0.138 NA 7.0583456 947 7 106826381 106826381 C T exonic HBP1 NA synonymous SNV HBP1:NM_001244262:exon4:c.C564T:p.H188H,HBP1:NM_012257:exon4:c.C534T:p.H178H exonic ENSG00000105856 NA synonymous SNV ENSG00000105856:ENST00000498408:exon3:c.C510T:p.H170H,ENSG00000105856:ENST00000222574:exon4:c.C534T:p.H178H,ENSG00000105856:ENST00000468410:exon4:c.C534T:p.H178H,ENSG00000105856:ENST00000485846:exon5:c.C534T:p.H178H Score=541;Name=lod=211 NA 7q22.3 NA NA Name=14 NA rs7794598 0.17 0.17 0.159 0.158147 0.2018 0.124 0.1282 0.1483 0.183 0.21 0.11 0.15 0.17 0.1949 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.06634 NA NA 0.215116 0.144576 NA 0.101 NA 7.0548506 947 11 119005132 119005132 C T exonic HINFP NA nonsynonymous SNV HINFP:NM_198971:exon10:c.C1478T:p.A493V,HINFP:NM_015517:exon11:c.C1478T:p.A493V exonic ENSG00000172273 NA nonsynonymous SNV ENSG00000172273:ENST00000350777:exon10:c.C1478T:p.A493V NA NA 11q23.3 NA Name=CTCF NA NA rs100803 0.44 0.44 0.427 0.401757 0.4433 0.7183 0.2839 0.1687 0.4315 0.44 0.74 0.33 0.18 0.4159 0.74 0.2 T 0.0 B 0.001 B 0.548 N 1.000 P 0.205 N 2.91 T -1.018 T 0.000 T 0.101 0.299 5.618 -0.697 -0.001 -0.098 2.468 0.298738 NA 0.51 0.420256 0.191591 NA 0.37 NA 7.0538774 947 1 205819104 205819104 G A exonic PM20D1 NA nonsynonymous SNV PM20D1:NM_152491:exon1:c.C97T:p.H33Y exonic ENSG00000162877 NA nonsynonymous SNV ENSG00000162877:ENST00000367136:exon1:c.C97T:p.H33Y NA NA 1q32.1 NA NA NA NA rs11540014 0.17 0.17 0.15 0.160942 0.0974 0.4266 0.0605 0.053 0.1697 0.1 0.42 0.06 0.05 0.1076 0.42 1 T 0.0 B 0.0 B 0.539 N 1.000 P 0.69 N 3.29 T -0.926 T 0.000 T 0.036 -0.689 1.008 -1.59 -0.492 0.390 0.572 -0.688948 NA 1 0.075349 0.060372 NA 0.087 NA 7.0529844 947 19 8321937 8321937 C T exonic CERS4 NA synonymous SNV CERS4:NM_024552:exon9:c.C717T:p.H239H exonic ENSG00000090661 NA synonymous SNV ENSG00000090661:ENST00000559450:exon8:c.C717T:p.H239H,ENSG00000090661:ENST00000251363:exon9:c.C717T:p.H239H,ENSG00000090661:ENST00000558331:exon9:c.C564T:p.H188H,ENSG00000090661:ENST00000559336:exon9:c.C717T:p.H239H Score=433;Name=lod=77 NA 19p13.2 NA Name=CTCF NA NA rs1127912 0.24 0.24 0.221 0.228035 0.2117 0.1964 0.2291 0.3434 0.1207 0.22 0.2 0.23 0.33 0.2125 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214214 NA NA 0.19093 0.312755 ID=COSM148474;OCCURENCE=1(stomach) 0.217 NA 7.0515366 947 7 106897237 106897237 A C exonic COG5 NA synonymous SNV COG5:NM_001161520:exon16:c.T1782G:p.V594V,COG5:NM_006348:exon16:c.T1782G:p.V594V exonic ENSG00000164597 NA synonymous SNV ENSG00000164597:ENST00000297135:exon16:c.T1782G:p.V594V,ENSG00000164597:ENST00000393603:exon16:c.T1782G:p.V594V Score=511;Name=lod=159 NA 7q22.3 NA Name=MafK_(ab50322) NA NA rs17349904 0.14 0.14 0.13 0.129792 0.2028 0.1587 0.121 0.0136 0.1881 0.21 0.15 0.14 0.02 0.1983 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130655 NA NA 0.214767 0.049932 NA 0.058 NA 7.0507996 947 10 129899778 129899778 G C exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon13:c.C8369G:p.T2790S,MKI67:NM_002417:exon14:c.C9449G:p.T3150S exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon13:c.C8369G:p.T2790S,ENSG00000148773:ENST00000368654:exon14:c.C9449G:p.T3150S NA NA 10q26.2 NA NA NA NA rs11106 0.43 0.43 0.441 0.423922 0.4264 0.3859 0.5432 0.4561 0.3323 0.43 0.42 0.52 0.39 0.4317 0.52 0.81 T 0.0 B 0.0 B 0.243 N 1.000 P -0.695 N 5.27 T -0.997 T 0.000 T 0.004 -1.458 0.019 -1.54 -0.713 -1.919 3.323 -1.458143 NA 1 0.425465 0.445075 NA 0.384 NA 7.0497684 947 7 48285485 48285485 C T exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon13:c.C1517T:p.P506L exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon13:c.C1517T:p.P506L NA NA 7p12.3 NA NA NA NA rs1880738 0.4 0.4 0.346 0.40655 0.4115 0.6181 0.4366 0.1596 0.4959 0.41 0.59 0.43 0.13 0.4441 0.59 0.69 T 0.0 B 0.0 B 0.943 N 1.000 P 0 N -1.48 T -0.951 T 0.000 T 0.041 1.276 10.17 -2.68 -0.277 0.065 0.685 1.276424 1.276424 1 0.429735 0.179775 ID=COSM453164,COSM453163;OCCURENCE=1(breast) 0.5 NA 7.0479984 947 16 49670390 49670390 A G exonic ZNF423 NA synonymous SNV ZNF423:NM_001271620:exon4:c.T2493C:p.C831C,ZNF423:NM_015069:exon4:c.T2673C:p.C891C exonic ENSG00000102935 NA synonymous SNV ENSG00000102935:ENST00000535559:exon2:c.T2322C:p.C774C,ENSG00000102935:ENST00000567169:exon2:c.T2322C:p.C774C,ENSG00000102935:ENST00000562871:exon3:c.T2493C:p.C831C,ENSG00000102935:ENST00000561648:exon4:c.T2673C:p.C891C,ENSG00000102935:ENST00000562520:exon4:c.T2493C:p.C831C,ENSG00000102935:ENST00000563137:exon4:c.T2493C:p.C831C,ENSG00000102935:ENST00000262383:exon5:c.T2673C:p.C891C Score=650;Name=lod=586 NA 16q12.1 Score=830;Name=V$ATF_01 NA NA NA rs3803667 0.22 0.22 0.196 0.204872 0.1948 0.2073 0.281 0.1982 0.1677 0.21 0.23 0.24 0.2 0.2165 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891494 NA NA 0.209767 0.210646 NA 0.058 NA 7.0455996 948 4 113539969 113539969 T C exonic C4orf21 NA nonsynonymous SNV C4orf21:NM_018392:exon6:c.A1229G:p.N410S exonic ENSG00000138658 NA nonsynonymous SNV ENSG00000138658:ENST00000309071:exon6:c.A1229G:p.N410S,ENSG00000138658:ENST00000473015:exon6:c.A1229G:p.N410S,ENSG00000138658:ENST00000505019:exon6:c.A1229G:p.N410S,ENSG00000138658:ENST00000445203:exon7:c.A1136G:p.N379S NA NA 4q25 NA NA NA NA rs7696816 0.41 0.41 0.416 0.417732 0.4284 0.4117 0.5086 0.3003 0.5072 0.43 0.43 0.5 0.31 0.436 0.5 1 T 0.0 B 0.0 B 0.840 N 1.000 P -0.345 N 2.03 T -0.997 T 0.000 T 0.003 -1.933 0.008 -0.147 0.149 -1.654 1.474 -1.932518 NA 1 0.42407 0.325238 NA 0.529 NA 7.0448634 948 19 51920613 51920613 C T exonic SIGLEC10 NA synonymous SNV SIGLEC10:NM_001171156:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171157:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171158:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171159:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171161:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_033130:exon2:c.G144A:p.Q48Q exonic;splicing ENSG00000142512;ENSG00000142512 ENST00000530476:exon3:c.46-1G>A synonymous SNV ENSG00000142512:ENST00000339313:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000353836:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000356298:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000432469:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000436984:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000439889:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000441969:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000442846:exon2:c.G144A:p.Q48Q,ENSG00000142512:ENST00000525998:exon2:c.G144A:p.Q48Q NA NA 19q13.41 NA NA NA NA rs1010425 0.86 0.86 0.844 0.834265 0.8728 0.8641 0.8876 0.7421 0.8507 0.88 0.88 0.88 0.78 0.8702 0.88 . . . . . . . . 1.000 P . . . . . . . . . 0.134 4.72 -9.07 -5.273 -5.720 1.052 0.13396 NA NA 0.87907 0.770086 NA 0.913 NA 7.0445966 948 8 23190941 23190941 T C exonic LOXL2 NA synonymous SNV LOXL2:NM_002318:exon5:c.A939G:p.S313S exonic ENSG00000134013 NA synonymous SNV ENSG00000134013:ENST00000389131:exon5:c.A939G:p.S313S NA NA 8p21.3 NA NA NA NA rs1010156 0.46 0.46 0.442 0.412141 0.5537 0.4742 0.3948 0.3169 0.3436 0.56 0.49 0.41 0.31 0.4999 0.57 . . . . . . . . 0.001 P . . . . -1.005 T 0.000 T . 0.386 6.097 -11.9 -2.452 -5.057 6.486 0.386253 NA NA 0.568605 0.342261 NA 0.384 NA 7.0444616 948 18 9887546 9887546 G A exonic TXNDC2 NA nonsynonymous SNV TXNDC2:NM_001098529:exon2:c.G1070A:p.G357D,TXNDC2:NM_032243:exon2:c.G869A:p.G290D exonic ENSG00000168454 NA nonsynonymous SNV ENSG00000168454:ENST00000306084:exon2:c.G1070A:p.G357D,ENSG00000168454:ENST00000357775:exon2:c.G869A:p.G290D NA NA 18p11.22 NA NA NA NA rs2240906 0.51 0.51 0.474 0.481629 0.4185 0.8155 0.4481 0.3548 0.3978 0.43 0.8 0.43 0.34 0.448 0.8 . . 0.023 B 0.051 B . . 1.000 P 0.75 N 1.43 T -1.039 T 0.000 T 0.052 -0.176 3.14 0.852 -0.049 -1.783 6.363 -0.176442 NA NA 0.422674 0.376759 ID=COSM1389977,COSM1389978;OCCURENCE=1(large_intestine) 0.355 NA 7.0441594 948 1 247835950 247835950 T C exonic OR13G1 NA nonsynonymous SNV OR13G1:NM_001005487:exon1:c.A394G:p.I132V exonic ENSG00000197437 NA nonsynonymous SNV ENSG00000197437:ENST00000359688:exon1:c.A394G:p.I132V NA NA 1q44 NA NA NA NA rs1151640 0.44 0.44 0.408 0.40595 0.4195 0.6032 0.5937 0.1286 0.4305 0.42 0.65 0.56 0.13 0.4453 0.65 0.49 T 0.002 B 0.006 B 0.450 N 1.000 P 1.245 L 5.83 T -1.077 T 0.000 T 0.066 -0.112 3.452 -3.4 -0.755 -0.022 5.921 -0.11175 NA 0.48 0.424884 0.167726 ID=COSM1341001;OCCURENCE=1(large_intestine) 0.304 NA 7.0436494 948 20 19261623 19261623 G A exonic SLC24A3 NA nonsynonymous SNV SLC24A3:NM_020689:exon2:c.G163A:p.V55I exonic ENSG00000185052 NA nonsynonymous SNV ENSG00000185052:ENST00000328041:exon2:c.G163A:p.V55I Score=500;Name=lod=143 NA 20p11.23 NA NA NA NA rs1569767 0.43 0.43 0.42 0.432109 0.4175 0.5188 0.5375 0.3298 0.4213 0.41 0.53 0.54 0.28 0.4396 0.54 . . 0.0 B 0.0 B 0.760 N 1.000 P 0.205 N 0.15 T -0.916 T 0.000 T 0.014 1.3 10.25 1.86 -0.085 -0.057 2.317 1.2997 1.2997 1 0.43314 0.326827 NA 0.435 NA 7.0430934 948 5 147498019 147498019 G A exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon23:c.G2132A:p.R711Q,SPINK5:NM_001127699:exon23:c.G2132A:p.R711Q,SPINK5:NM_006846:exon23:c.G2132A:p.R711Q exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon23:c.G2132A:p.R711Q,ENSG00000133710:ENST00000359874:exon23:c.G2132A:p.R711Q,ENSG00000133710:ENST00000398454:exon23:c.G2132A:p.R711Q,ENSG00000133710:ENST00000508733:exon23:c.G2075A:p.R692Q NA NA 5q32 NA NA NA NA rs3777134 0.49 0.49 0.468 0.488419 0.5924 0.4821 0.634 0.3139 0.5204 0.56 0.46 0.59 0.36 0.583 0.62 0.5 T 0.556 P 0.103 B 0.490 N 1.000 P 0.94 L 3.26 T -1.085 T 0.000 T 0.155 0.778 8.108 2.99 0.907 0.440 8.587 0.778056 NA 0.11 0.616488 0.380952 ID=COSM149974;OCCURENCE=1(stomach) 0.471 NA 7.0414454 948 17 78079643 78079643 C T exonic GAA NA synonymous SNV GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S exonic ENSG00000171298 NA synonymous SNV ENSG00000171298:ENST00000302262:exon3:c.C642T:p.S214S,ENSG00000171298:ENST00000570803:exon3:c.C642T:p.S214S,ENSG00000171298:ENST00000390015:exon4:c.C642T:p.S214S NA NA 17q25.3 NA NA Name=43 NA rs1800301 0.11 0.11 0.121 0.10603 0.2276 0.002 0.1138 0.0582 0.1472 0.22 NA 0.11 0.08 0.1802 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086525 NA NA 0.22 0.078983 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078184.2;CLNDSDB=.;CLNDSDBID=. 7.0388666 948 18 67687860 67687860 T C exonic RTTN NA synonymous SNV RTTN:NM_173630:exon45:c.A6144G:p.V2048V exonic ENSG00000176225 NA synonymous SNV ENSG00000176225:ENST00000255674:exon45:c.A6144G:p.V2048V Score=529;Name=lod=189 NA 18q22.2 NA NA NA NA rs2304378 0.17 0.17 0.157 0.152356 0.2286 0.1806 0.1311 0.0605 0.184 0.22 0.18 0.17 0.07 0.1919 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499592 1.499592 NA 0.208921 0.085277 NA 0.188 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118220.2;CLNDSDB=.;CLNDSDBID=. 7.0372456 948 2 95947085 95947085 A G exonic PROM2 NA nonsynonymous SNV PROM2:NM_001165977:exon12:c.A1523G:p.Q508R,PROM2:NM_001165978:exon12:c.A1523G:p.Q508R,PROM2:NM_144707:exon12:c.A1523G:p.Q508R exonic ENSG00000155066 NA nonsynonymous SNV ENSG00000155066:ENST00000317620:exon12:c.A1523G:p.Q508R,ENSG00000155066:ENST00000317668:exon12:c.A1523G:p.Q508R,ENSG00000155066:ENST00000403131:exon12:c.A1523G:p.Q508R,ENSG00000155066:ENST00000542147:exon12:c.A1523G:p.Q508R NA NA 2q11.1 NA NA NA NA rs12992066 0.79 0.79 0.787 0.79972 0.7664 0.6885 0.866 0.9085 0.7546 0.75 0.69 0.9 0.9 0.7749 0.9 0.75 T 0.0 B 0.0 B 0.909 N 1.000 P -0.41 N 0.9 T -0.984 T 0.000 T 0.046 -2.209 0.005 -3.94 -2.531 0.082 14.375 -2.208608 NA 0.89 0.755349 0.879483 NA 0.768 NA 7.0366844 948 1 177902753 177902753 G C exonic SEC16B NA nonsynonymous SNV SEC16B:NM_033127:exon21:c.C2590G:p.P864A exonic ENSG00000120341 NA nonsynonymous SNV ENSG00000120341:ENST00000308284:exon21:c.C2590G:p.P864A NA NA 1q25.2 NA NA NA NA rs591120 0.41 0.41 0.417 0.408946 0.4463 0.2808 0.4409 0.4644 0.4049 0.45 0.35 0.4 0.44 0.4236 0.46 0.91 T 0.0 B 0.0 B 0.264 N 1.000 P -1.78 N 2.72 T -0.941 T 0.000 T 0.014 0.634 7.408 2.73 0.052 -0.320 4.338 0.634161 NA 0.27 0.427864 0.462279 NA 0.42 NA 7.0355694 949 11 34668143 34668143 C T exonic EHF NA synonymous SNV EHF:NM_001206615:exon3:c.C255T:p.L85L,EHF:NM_001206616:exon3:c.C321T:p.L107L,EHF:NM_012153:exon3:c.C255T:p.L85L exonic ENSG00000135373 NA synonymous SNV ENSG00000135373:ENST00000527935:exon2:c.C255T:p.L85L,ENSG00000135373:ENST00000257831:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000450654:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000525253:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000529527:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000530286:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000531728:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000531794:exon3:c.C321T:p.L107L,ENSG00000135373:ENST00000532302:exon3:c.C255T:p.L85L,ENSG00000135373:ENST00000533754:exon3:c.C255T:p.L85L Score=704;Name=lod=966 NA 11p13 Score=929;Name=V$E47_02 NA NA NA rs2281910 0.26 0.26 0.216 0.23123 0.1948 0.38 0.3213 0.1558 0.1534 0.2 0.38 0.32 0.16 0.2326 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.275571 1.275571 NA 0.204979 0.156222 NA 0.138 NA 7.0342876 949 11 5364276 5364276 G A exonic OR51B5 NA nonsynonymous SNV OR51B5:NM_001005567:exon5:c.C479T:p.P160L exonic ENSG00000242180 NA nonsynonymous SNV ENSG00000242180:ENST00000300773:exon1:c.C479T:p.P160L NA NA 11p15.4 NA NA NA NA rs4910551 0.33 0.33 0.302 0.32488 0.4404 0.1786 0.402 0.2595 0.3906 0.44 0.16 0.42 0.27 0.413 0.45 1 T 0.589 P 0.507 P 0.031 N 1.000 P -1.87 N 5.75 T -1.034 T 0.000 T 0.103 -0.45 1.914 1.66 0.609 -0.781 1.224 -0.450089 NA 0.6 0.446591 0.278055 NA 0.362 NA 7.0333424 949 1 17087465 17087465 G A exonic MST1L NA nonsynonymous SNV MST1L:NM_001271733:exon2:c.C200T:p.P67L ncRNA_exonic ENSG00000186715 NA NA NA Score=563;Name=lod=259 NA 1p36.13 NA NA NA NA rs11260924 NA NA 0.581 NA NA NA NA NA NA NA NA NA NA 0.467 0.022 0.34 T 0.007 B 0.009 B 0.155 N . . . . . . -1.043 T 0.068 T 0.193 -0.425 2.02 . -0.000 -0.121 5.303 -0.424959 NA 0.37 NA NA NA 0.043 NA 7.033 949 22 26936897 26936897 G A exonic TPST2 NA synonymous SNV TPST2:NM_001008566:exon3:c.C700T:p.L234L,TPST2:NM_003595:exon3:c.C700T:p.L234L exonic ENSG00000128294 NA synonymous SNV ENSG00000128294:ENST00000338754:exon3:c.C700T:p.L234L,ENSG00000128294:ENST00000398110:exon3:c.C700T:p.L234L,ENSG00000128294:ENST00000403880:exon4:c.C700T:p.L234L Score=587;Name=lod=325 NA 22q12.1 Score=873;Name=V$HMX1_01 NA NA NA rs12169509 0.14 0.14 0.136 0.102835 0.2386 0.003 0.1081 0.1059 0.0583 0.24 0.0035 0.15 0.14 0.1684 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902956 NA NA 0.22686 0.108261 NA 0.087 NA 7.0328066 949 1 182993025 182993025 C T exonic LAMC1 NA synonymous SNV LAMC1:NM_002293:exon1:c.C174T:p.A58A exonic ENSG00000135862 NA synonymous SNV ENSG00000135862:ENST00000258341:exon1:c.C174T:p.A58A Score=785;Name=lod=2066 NA 1q25.3 NA Name=BAF155,NFKB,AP-2gamma,HA-E2F1,Pol2-4H8,ERalpha_a,E2F6,Pol2,AP-2alpha Name=3 NA rs10911194 0.52 0.52 0.456 0.519569 0.5338 0.628 0.611 0.3192 0.5992 0.55 0.58 0.57 0.37 0.558 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.867186 1.867186 NA 0.54407 0.356559 NA 0.406 NA 7.0307966 949 12 117669914 117669914 G A exonic NOS1 NA synonymous SNV NOS1:NM_001204213:exon21:c.C2250T:p.D750D,NOS1:NM_001204214:exon21:c.C2250T:p.D750D,NOS1:NM_000620:exon22:c.C3258T:p.D1086D,NOS1:NM_001204218:exon23:c.C3360T:p.D1120D exonic ENSG00000089250 NA synonymous SNV ENSG00000089250:ENST00000317775:exon22:c.C3258T:p.D1086D,ENSG00000089250:ENST00000338101:exon22:c.C3360T:p.D1120D Score=489;Name=lod=129 NA 12q24.22 NA Name=CTCF NA NA rs3741475 0.25 0.25 0.271 0.258387 0.2137 0.3304 0.2118 0.2821 0.2311 0.21 0.29 0.2 0.29 0.2211 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149705 NA NA 0.201222 0.242771 ID=COSM1359113;OCCURENCE=1(large_intestine) 0.275 NA 7.0306446 949 3 10443827 10443827 G C exonic ATP2B2 NA synonymous SNV ATP2B2:NM_001001331:exon4:c.C603G:p.V201V,ATP2B2:NM_001683:exon4:c.C603G:p.V201V exonic ENSG00000157087 NA synonymous SNV ENSG00000157087:ENST00000452124:exon2:c.C264G:p.V88V,ENSG00000157087:ENST00000352432:exon3:c.C603G:p.V201V,ENSG00000157087:ENST00000343816:exon4:c.C603G:p.V201V,ENSG00000157087:ENST00000360273:exon4:c.C603G:p.V201V,ENSG00000157087:ENST00000383800:exon4:c.C603G:p.V201V,ENSG00000157087:ENST00000460129:exon4:c.C603G:p.V201V,ENSG00000157087:ENST00000397077:exon6:c.C603G:p.V201V Score=491;Name=lod=132 NA 3p25.3 Score=939;Name=V$LMO2COM_01 NA NA NA rs13084776 0.14 0.14 0.101 0.169329 0.2097 0.0099 0.3256 0.1233 0.2434 0.19 0.01 0.29 0.11 0.212 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.297539 1.297539 NA 0.214884 0.132093 NA 0.239 NA 7.0300826 949 17 42979026 42979026 T C splicing CCDC103 NM_001258399:exon3:c.280+2T>C,NM_001258398:exon3:c.280+2T>C NA NA intronic ENSG00000167131,ENSG00000214447 NA NA NA NA NA 17q21.31 Score=799;Name=V$CDPCR3_01 Name=AP-2alpha,AP-2gamma,CTCF Name=109 NA rs74349463 0.1 0.1 0.102 0.0946486 0.166 0.005 0.1037 0.0635 0.1493 0.16 0.0035 0.13 0.08 0.1348 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115746 NA NA 0.169419 0.070132 NA 0.08 NA 7.029781 949 14 21623648 21623648 G A exonic OR5AU1 NA synonymous SNV OR5AU1:NM_001004731:exon1:c.C537T:p.N179N exonic ENSG00000169327 NA synonymous SNV ENSG00000169327:ENST00000304418:exon1:c.C537T:p.N179N Score=478;Name=lod=117 NA 14q11.2 NA Name=TAL1_(SC-12984) Name=2 NA rs7161544 0.38 0.38 0.357 0.347843 0.5755 0.1389 0.3501 0.3162 0.3701 0.57 0.13 0.43 0.32 0.4791 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.594607 NA NA 0.58314 0.360872 NA 0.471 NA 7.0289266 949 9 135470414 135470414 T C exonic DDX31 NA nonsynonymous SNV DDX31:NM_022779:exon20:c.A2395G:p.I799V exonic ENSG00000125485 NA nonsynonymous SNV ENSG00000125485:ENST00000372153:exon18:c.A2176G:p.I726V,ENSG00000125485:ENST00000372159:exon20:c.A2395G:p.I799V,ENSG00000125485:ENST00000438527:exon20:c.A2008G:p.I670V NA NA 9q34.13 NA NA NA NA rs306547 0.8 0.8 0.795 0.826877 0.7744 0.7183 0.8444 0.9387 0.8292 0.78 0.7 0.82 0.93 0.7771 0.93 0.4 T 0.0 B 0.0 B 0.001 N 1.000 P -0.69 N 4.44 T -1.028 T 0.000 T 0.103 -1.071 0.172 -2.58 -1.297 -0.392 5.677 -1.070575 NA 1 0.753023 0.916931 NA 0.855 NA 7.0288104 949 3 108095365 108095365 G A exonic HHLA2 NA synonymous SNV HHLA2:NM_007072:exon9:c.G1185A:p.E395E exonic ENSG00000114455 NA synonymous SNV ENSG00000114455:ENST00000467761:exon8:c.G1185A:p.E395E,ENSG00000114455:ENST00000357759:exon9:c.G1185A:p.E395E,ENSG00000114455:ENST00000489514:exon9:c.G1185A:p.E395E,ENSG00000114455:ENST00000491820:exon9:c.G1134A:p.E378E,ENSG00000114455:ENST00000467562:exon10:c.G993A:p.E331E NA NA 3q13.13 NA NA NA NA rs2124736 0.12 0.12 0.093 0.0896565 0.2326 0.001 0.1527 0.0136 0.092 0.24 NA 0.18 0.01 0.1738 0.24 . . . . . . . . 1.000 P . . . . -0.982 T 0.000 T . -0.527 1.601 -2.48 -0.545 -0.141 1.081 -0.526518 NA NA 0.231603 0.056503 NA 0.109 NA 7.0286636 949 12 6637941 6637941 C T exonic NCAPD2 NA synonymous SNV NCAPD2:NM_014865:exon26:c.C3396T:p.S1132S exonic ENSG00000010292 NA synonymous SNV ENSG00000010292:ENST00000545962:exon25:c.C3261T:p.S1087S,ENSG00000010292:ENST00000315579:exon26:c.C3396T:p.S1132S Score=580;Name=lod=303 NA 12p13.31 Score=941;Name=V$GATA2_01 NA NA NA rs10849484 0.11 0.11 0.094 0.104633 0.2097 0.0089 0.1354 0.0182 0.1902 0.21 0.01 0.18 0.03 0.1923 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379425 1.379425 NA 0.236047 0.053109 NA 0.087 NA 7.0286196 949 15 101109794 101109794 C G exonic LINS NA nonsynonymous SNV LINS:NM_001040616:exon7:c.G1923C:p.E641D exonic ENSG00000140471 NA nonsynonymous SNV ENSG00000140471:ENST00000314742:exon7:c.G1923C:p.E641D NA NA 15q26.3 NA NA Name=12 NA rs12157 0.33 0.33 0.335 0.311502 0.4513 0.244 0.2493 0.239 0.3793 0.46 0.25 0.29 0.25 0.3848 0.47 0.83 T 0.0 B 0.001 B 0.884 N 1.000 P -1.15 N 2.78 T -0.923 T 0.000 T 0.009 -1.528 0.016 0.695 0.171 0.066 2.189 -1.528368 NA 0.91 0.469419 0.282569 NA 0.377 NA 7.0278144 949 7 100371100 100371100 C A exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon29:c.C5618A:p.A1873E,ENSG00000146839:ENST00000542585:exon29:c.C5618A:p.A1873E,ENSG00000146839:ENST00000546292:exon29:c.C5618A:p.A1873E NA NA 7q22.1 NA NA NA NA rs2734880 0.47 0.47 0.487 0.483826 0.5815 0.1796 0.3833 0.6959 0.4816 0.58 0.15 0.41 0.72 0.5031 0.72 0.55 T 0.001 B 0.004 B 0.002 N 1.000 P -0.5 N 3.62 T -0.959 T 0.000 T 0.295 -1.915 0.008 -9.15 -2.048 -0.747 1.285 -1.914539 NA NA 0.555488 0.692703 ID=COSM1446671,COSM1446672;OCCURENCE=1(large_intestine) 0.551 NA 7.0265787 949 2 160676350 160676350 T C exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon29:c.A4040G:p.K1347R,LY75-CD302:NM_001198760:exon29:c.A4040G:p.K1347R,LY75:NM_002349:exon29:c.A4040G:p.K1347R exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon29:c.A4040G:p.K1347R,ENSG00000248672:ENST00000504764:exon29:c.A4040G:p.K1347R,ENSG00000248672:ENST00000505052:exon29:c.A4040G:p.K1347R,ENSG00000054219:ENST00000553424:exon29:c.A4040G:p.K1347R,ENSG00000054219:ENST00000554112:exon29:c.A4040G:p.K1347R NA NA 2q24.2 NA NA NA NA rs17827158 0.07 0.07 0.057 0.0728834 0.1044 0.0079 0.0807 0.0567 0.1237 0.1 0.01 0.12 0.08 0.0976 0.12 0.53 T 0.004 B 0.01 B . . 1.000 P 0.975 L 3.15 T -0.942 T 0.000 T 0.111 0.906 8.685 1.98 0.403 0.646 1.410 0.905974 NA 0.04 0.104767 0.070132 NA 0.116 NA 7.0265664 949 3 4716811 4716811 A C exonic ITPR1 NA synonymous SNV ITPR1:NM_001168272:exon22:c.A2613C:p.L871L,ITPR1:NM_002222:exon22:c.A2613C:p.L871L,ITPR1:NM_001099952:exon23:c.A2658C:p.L886L exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000443694:exon20:c.A2613C:p.L871L,ENSG00000150995:ENST00000302640:exon22:c.A2613C:p.L871L,ENSG00000150995:ENST00000456211:exon22:c.A2613C:p.L871L,ENSG00000150995:ENST00000354582:exon23:c.A2658C:p.L886L,ENSG00000150995:ENST00000357086:exon23:c.A2658C:p.L886L,ENSG00000150995:ENST00000423119:exon23:c.A2658C:p.L886L NA NA 3p26.1 Score=754;Name=V$EVI1_01 NA NA NA rs2306877 0.3 0.3 0.288 0.332867 0.1958 0.2897 0.3184 0.3911 0.4499 0.21 0.3 0.33 0.41 0.2692 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774164 NA NA 0.175709 0.360384 NA 0.239 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117300.2;CLNDSDB=.;CLNDSDBID=. 7.0259576 949 11 129321066 129321066 C T exonic BARX2 NA synonymous SNV BARX2:NM_003658:exon4:c.C609T:p.P203P exonic ENSG00000043039 NA synonymous SNV ENSG00000043039:ENST00000531946:exon2:c.C243T:p.P81P,ENSG00000043039:ENST00000526127:exon3:c.C174T:p.P58P,ENSG00000043039:ENST00000281437:exon4:c.C609T:p.P203P Score=429;Name=lod=74 NA 11q24.3 Score=870;Name=V$FAC1_01 NA NA NA rs10791011 0.25 0.25 0.255 0.299321 0.1968 0.4048 0.1902 0.2224 0.4775 0.2 0.41 0.19 0.19 0.2459 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26478 1.26478 NA 0.198627 0.222853 NA 0.181 NA 7.0253396 950 22 44489868 44489868 T C exonic PARVB NA nonsynonymous SNV PARVB:NM_001243385:exon2:c.T62C:p.V21A,PARVB:NM_001243386:exon2:c.T17C:p.V6A,PARVB:NM_013327:exon2:c.T173C:p.V58A,PARVB:NM_001003828:exon3:c.T272C:p.V91A exonic ENSG00000188677 NA nonsynonymous SNV ENSG00000188677:ENST00000338758:exon2:c.T173C:p.V58A,ENSG00000188677:ENST00000402876:exon2:c.T173C:p.V58A,ENSG00000188677:ENST00000404989:exon2:c.T62C:p.V21A,ENSG00000188677:ENST00000406477:exon3:c.T272C:p.V91A,ENSG00000188677:ENST00000444029:exon3:c.T167C:p.V56A NA NA 22q13.31 NA NA NA NA rs1983609 0.87 0.87 0.87 0.872204 0.7386 0.9593 0.8818 0.9773 0.771 0.73 0.97 0.87 0.97 0.8097 0.97 0.7 T 0.003 B 0.005 B 0.526 N 1.000 P 0.025 N 1.5 T -1.036 T 0.000 T 0.161 -1.194 0.075 -4.14 -1.601 0.009 8.981 -1.193909 NA 0.36 0.760465 0.948479 NA 0.797 NA 7.0245684 950 4 11401012 11401012 A G exonic HS3ST1 NA synonymous SNV HS3ST1:NM_005114:exon2:c.T618C:p.F206F exonic ENSG00000002587 NA synonymous SNV ENSG00000002587:ENST00000002596:exon2:c.T618C:p.F206F Score=566;Name=lod=267 NA 4p15.33 Score=754;Name=V$MYOGNF1_01 NA NA NA rs1047385 0.23 0.23 0.21 0.2498 0.1978 0.1796 0.1945 0.3192 0.3211 0.22 0.19 0.2 0.32 0.2332 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.651166 NA NA 0.211279 0.292329 NA 0.246 NA 7.0243876 950 1 48688376 48688376 A G UTR5 SLC5A9 NM_001135181:c.-33A>G,NM_001011547:c.-33A>G NA NA UTR5 ENSG00000117834 ENST00000438567:c.-33A>G,ENST00000533824:c.-33A>G,ENST00000425816:c.-33A>G,ENST00000236495:c.-33A>G NA NA Score=429;Name=lod=74 NA 1p33 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),HEY1,HNF4G_(SC-6558),p300,CEBPB,TBP,TAF1,FOXA1_(C-20),HNF4A_(H-171),HNF4A,Pol2,SP1 Name=8 NA rs41287916 0.06 0.06 0.046 0.0503195 0.1113 0.001 0.0648 0.0121 0.0798 0.11 0.0017 0.09 0.02 0.088 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747225 NA NA 0.109994 0.023844 NA 0.043 NA 7.0240394 950 9 140414410 140414410 C T exonic PNPLA7 NA nonsynonymous SNV PNPLA7:NM_152286:exon10:c.G968A:p.R323Q,PNPLA7:NM_001098537:exon11:c.G1043A:p.R348Q exonic ENSG00000130653 NA nonsynonymous SNV ENSG00000130653:ENST00000277531:exon10:c.G968A:p.R323Q,ENSG00000130653:ENST00000434090:exon10:c.G941A:p.R314Q,ENSG00000130653:ENST00000406427:exon11:c.G1043A:p.R348Q NA NA 9q34.3 NA NA NA NA rs11137410 0.15 0.15 0.139 0.132588 0.0905 0.2143 0.0735 0.18 0.0695 0.1 0.2 0.08 0.21 0.115 0.21 0.72 T 0.01 B 0.002 B 0.003 N 1.000 P 0.51 N 3.43 T -1.103 T 0.000 T 0.111 0.546 6.955 -0.136 0.072 -0.447 3.541 0.546168 NA 0.49 0.103953 0.17862 ID=COSM455661;OCCURENCE=1(breast) 0.21 NA 7.0238804 950 11 47857253 47857253 T C exonic NUP160 NA nonsynonymous SNV NUP160:NM_015231:exon7:c.A1051G:p.T351A exonic ENSG00000030066 NA nonsynonymous SNV ENSG00000030066:ENST00000528071:exon5:c.A709G:p.T237A,ENSG00000030066:ENST00000378460:exon7:c.A1051G:p.T351A,ENSG00000030066:ENST00000530326:exon7:c.A709G:p.T237A Score=496;Name=lod=138 NA 11p11.2 NA NA NA NA rs3816605 0.33 0.33 0.285 0.345847 0.4344 0.4355 0.3242 0.0847 0.5307 0.43 0.35 0.34 0.12 0.4164 0.46 0.74 T 0.0 B 0.004 B 0.006 N 0.000 P 1.5 L 0.94 T -0.909 T 0.000 T 0.033 1.709 11.67 0.284 -0.207 0.663 6.931 1.708973 1.708973 0.12 0.458934 0.158337 NA 0.297 NA 7.0235994 950 4 11401087 11401087 A G exonic HS3ST1 NA synonymous SNV HS3ST1:NM_005114:exon2:c.T543C:p.D181D exonic ENSG00000002587 NA synonymous SNV ENSG00000002587:ENST00000002596:exon2:c.T543C:p.D181D Score=507;Name=lod=153 NA 4p15.33 Score=783;Name=V$PAX5_02 NA NA NA rs1047389 0.23 0.23 0.205 0.251997 0.1978 0.1885 0.1945 0.3192 0.3231 0.22 0.19 0.2 0.32 0.2337 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439786 NA NA 0.211628 0.292102 NA 0.246 NA 7.0235386 950 19 14589378 14589378 C T exonic GIPC1 NA synonymous SNV GIPC1:NM_202494:exon6:c.G561A:p.A187A,GIPC1:NM_202469:exon7:c.G561A:p.A187A,GIPC1:NM_202470:exon7:c.G852A:p.A284A,GIPC1:NM_202468:exon8:c.G852A:p.A284A,GIPC1:NM_005716:exon9:c.G852A:p.A284A exonic ENSG00000123159 NA synonymous SNV ENSG00000123159:ENST00000589631:exon4:c.G237A:p.A79A,ENSG00000123159:ENST00000393028:exon6:c.G561A:p.A187A,ENSG00000123159:ENST00000345425:exon7:c.G852A:p.A284A,ENSG00000123159:ENST00000591349:exon7:c.G561A:p.A187A,ENSG00000123159:ENST00000393029:exon8:c.G561A:p.A187A,ENSG00000123159:ENST00000586027:exon8:c.G852A:p.A284A,ENSG00000123159:ENST00000393033:exon9:c.G852A:p.A284A Score=535;Name=lod=200 NA 19p13.12 Score=810;Name=V$YY1_02 NA NA NA rs1127307 0.26 0.26 0.232 0.248203 0.2217 0.3036 0.2651 0.27 0.1769 0.2 0.33 0.28 0.26 0.2138 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.796146 1.796146 NA 0.207674 0.269178 NA 0.203 NA 7.0234926 950 17 78166385 78166385 C T exonic CARD14 NA synonymous SNV CARD14:NM_052819:exon6:c.C612T:p.D204D,CARD14:NM_001257970:exon9:c.C1323T:p.D441D,CARD14:NM_024110:exon9:c.C1323T:p.D441D exonic ENSG00000141527 NA stopgain ENSG00000141527:ENST00000575500:exon10:c.C1255T:p.R419X NA NA 17q25.3 NA NA Name=25 NA rs11658460 0.12 0.12 0.139 0.121406 0.1054 0.1696 0.0533 0.115 0.1452 0.11 0.18 0.05 0.12 0.113 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.766583 3.766583 NA 0.092791 0.120064 ID=COSM437728,COSM437729;OCCURENCE=1(breast) 0.138 NA 7.0221423 950 10 91066769 91066769 C A exonic IFIT2 NA nonsynonymous SNV IFIT2:NM_001547:exon2:c.C1056A:p.D352E exonic ENSG00000119922 NA nonsynonymous SNV ENSG00000119922:ENST00000371826:exon2:c.C1056A:p.D352E Score=363;Name=lod=40 NA 10q23.31 NA NA NA NA rs1727 0.87 0.87 0.895 0.878794 0.7624 0.9921 0.6916 0.9871 0.8681 0.77 0.99 0.71 0.98 0.8011 0.99 1 T 0.0 B 0.0 B 0.691 N 0.000 P -1.355 N 1.46 T -0.994 T 0.000 T 0.048 -0.454 1.897 2.19 0.138 0.637 7.374 -0.454146 NA 1 0.748308 0.949377 NA 0.746 NA 7.0215254 950 1 17087582 17087582 G A exonic MST1L NA nonsynonymous SNV MST1L:NM_001271733:exon2:c.C83T:p.S28L ncRNA_exonic ENSG00000186715 NA NA NA Score=563;Name=lod=259 NA 1p36.13 NA NA NA NA rs10907280 NA NA 0.223 NA NA NA NA NA NA NA NA NA NA 0.4796 NA 1 T 0.001 B 0.0 B 0.008 N . . . . . . -0.961 T 0.037 T 0.364 -2.394 0.003 . -0.000 1.671 . -2.39371 NA 1 NA NA ID=COSM1499789;OCCURENCE=1(lung) NA NA 7.0204 950 5 79031372 79031372 G C exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.G6784C:p.V2262L exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.G6784C:p.V2262L NA NA 5q14.1 NA NA NA NA rs6859595 0.28 0.28 0.333 0.271366 0.0815 0.3621 0.0821 0.5749 0.0971 0.08 0.41 0.08 0.61 0.1461 0.61 1 T 0.0 B 0.0 B 0.900 N 1.000 P 0.14 N 2.46 T -0.915 T 0.000 T 0.024 -2.236 0.005 -1.29 0.147 -0.194 1.430 -2.236224 NA 1 0.085711 0.489421 NA 0.304 NA 7.0200224 950 22 36900271 36900271 T C exonic FOXRED2 NA nonsynonymous SNV FOXRED2:NM_001102371:exon4:c.A923G:p.N308S,FOXRED2:NM_024955:exon4:c.A923G:p.N308S exonic ENSG00000100350 NA nonsynonymous SNV ENSG00000100350:ENST00000397223:exon3:c.A923G:p.N308S,ENSG00000100350:ENST00000216187:exon4:c.A923G:p.N308S,ENSG00000100350:ENST00000397224:exon4:c.A923G:p.N308S NA NA 22q12.3 NA NA NA NA rs2277841 0.67 0.67 0.671 0.649361 0.7823 0.2143 0.8127 0.9062 0.498 0.78 0.25 0.81 0.89 0.729 0.89 0.76 T 0.0 B 0.001 B 0.716 N 1.000 P 0.69 N 2.5 T -1.033 T 0.000 T 0.002 -2.54 0.003 -6.48 -2.059 -0.320 6.693 -2.540449 NA 0.76 0.802093 0.894008 NA 0.783 NA 7.0199404 950 22 50928026 50928026 G A exonic MIOX NA synonymous SNV MIOX:NM_017584:exon9:c.G702A:p.L234L exonic ENSG00000100253 NA synonymous SNV ENSG00000100253:ENST00000451761:exon8:c.G642A:p.L214L,ENSG00000100253:ENST00000216075:exon9:c.G702A:p.L234L,ENSG00000100253:ENST00000395732:exon9:c.G702A:p.L234L Score=472;Name=lod=110 NA 22q13.33 Score=955;Name=V$AP4_Q6 NA NA NA rs2232885 0.22 0.22 0.219 0.197484 0.2137 0.3125 0.2176 0.1225 0.1493 0.22 0.31 0.22 0.14 0.2166 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148519 NA NA 0.216566 0.148839 NA NA NA 7.0198006 950 16 633353 633353 T C exonic PIGQ NA nonsynonymous SNV PIGQ:NM_148920:exon10:c.T2002C:p.C668R exonic ENSG00000007541 NA nonsynonymous SNV ENSG00000007541:ENST00000026218:exon10:c.T2002C:p.C668R NA NA 16p13.3 NA NA NA NA rs710924 0.47 0.47 0.475 0.530551 0.4324 0.6379 0.4885 0.4743 0.6268 0.41 0.57 0.47 0.47 0.4911 0.57 . . 0.0 B 0.0 B . . 1.000 P 0 N 1.94 T -0.954 T 0.000 T 0.043 -1.571 0.015 1.29 -0.082 -2.893 5.103 -1.571008 NA 0.78 0.390181 0.44707 ID=COSM1128914;OCCURENCE=1(prostate) NA NA 7.0196524 950 6 12123249 12123249 A G exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A3221G:p.N1074S exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.A3221G:p.N1074S NA NA 6p24.1 NA NA NA NA rs2228220 0.13 0.13 0.13 0.147165 0.1163 0.13 0.1009 0.1793 0.1861 0.11 0.11 0.11 0.18 0.1098 0.18 . . 0.011 B 0.005 B 0.637 N 1.000 P 0.51 N 1.66 T -0.976 T 0.015 T 0.005 -1.697 0.011 -0.523 -0.314 -0.027 4.924 -1.696664 NA 0.65 0.088479 0.153394 NA 0.196 NA 7.0187544 950 5 79029288 79029288 C A exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.C4700A:p.A1567E exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.C4700A:p.A1567E NA NA 5q14.1 NA NA NA NA rs1428223 0.29 0.29 0.321 0.276158 0.0815 0.3621 0.085 0.5915 0.0971 0.08 0.41 0.09 0.62 0.147 0.62 0.59 T 0.013 B 0.01 B 0.531 N 1.000 P 0.77 N 3.73 T -1.025 T 0.000 T 0.054 2.007 12.67 0.655 0.381 -0.731 3.625 2.006665 2.006665 1 0.086403 0.496065 ID=COSM149868;OCCURENCE=1(stomach) 0.319 NA 7.0184304 950 11 18159254 18159254 A G exonic MRGPRX3 NA nonsynonymous SNV MRGPRX3:NM_054031:exon3:c.A505G:p.N169D exonic ENSG00000179826 NA nonsynonymous SNV ENSG00000179826:ENST00000531264:exon2:c.A505G:p.N169D,ENSG00000179826:ENST00000396275:exon3:c.A505G:p.N169D NA NA 11p15.1 NA NA NA NA rs4274188 0.77 0.77 0.733 0.743011 0.7773 0.874 0.8357 0.5371 0.7853 0.79 0.92 0.82 0.54 0.7697 0.92 1 T 0.0 B 0.001 B 0.010 N 1.000 P -0.905 N 1.4 T -0.975 T 0.000 T 0.01 -1.881 0.008 -1.77 -1.182 -2.235 7.827 -1.880533 NA 1 0.768111 0.579545 NA 0.703 NA 7.0182224 950 5 79033306 79033306 A C exonic CMYA5 NA nonsynonymous SNV CMYA5:NM_153610:exon2:c.A8718C:p.K2906N exonic ENSG00000164309 NA nonsynonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A8718C:p.K2906N NA NA 5q14.1 NA NA NA NA rs2278239 0.28 0.28 0.334 0.267372 0.0815 0.3621 0.0807 0.5605 0.0971 0.08 0.41 0.08 0.6 0.1464 0.6 0.09 T 0.144 B 0.035 B 0.408 N 1.000 P 1.1 L 1.16 T -0.959 T 0.000 T 0.017 0.288 5.559 -0.131 -0.026 0.658 2.281 0.287917 NA 0.17 0.087238 0.483101 NA 0.29 NA 7.0181954 950 3 174814920 174814920 A G exonic NAALADL2 NA nonsynonymous SNV NAALADL2:NM_207015:exon2:c.A384G:p.I128M exonic ENSG00000177694 NA nonsynonymous SNV ENSG00000177694:ENST00000454872:exon2:c.A384G:p.I128M,ENSG00000177694:ENST00000434257:exon4:c.A333G:p.I111M Score=448;Name=lod=88 NA 3q26.31 NA NA NA NA rs9836841 0.4 0.4 0.378 0.396366 0.4433 0.4375 0.4524 0.2912 0.408 0.43 0.41 0.48 0.3 0.4223 0.48 0.13 T 0.083 B 0.017 B 0.021 N 1.000 P 0.205 N 1.42 T -0.906 T 0.000 T 0.081 -0.557 1.481 -1.48 -0.076 -0.003 6.192 -0.557312 NA 0.08 0.450147 0.282407 NA 0.29 NA 7.0175864 950 12 123825559 123825559 C T exonic SBNO1 NA synonymous SNV SBNO1:NM_001167856:exon4:c.G627A:p.K209K,SBNO1:NM_018183:exon4:c.G624A:p.K208K exonic ENSG00000139697 NA synonymous SNV ENSG00000139697:ENST00000267176:exon4:c.G624A:p.K208K,ENSG00000139697:ENST00000420886:exon4:c.G627A:p.K209K,ENSG00000139697:ENST00000602398:exon5:c.G627A:p.K209K,ENSG00000139697:ENST00000602750:exon5:c.G624A:p.K208K Score=620;Name=lod=440 NA 12q24.31 Score=816;Name=V$OCT_C NA NA NA rs12322888 0.22 0.22 0.232 0.245407 0.2247 0.003 0.2233 0.4887 0.2035 0.23 NA 0.24 0.45 0.2248 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119621 NA NA 0.200814 0.45143 NA 0.312 NA 7.0163526 950 4 187628398 187628398 C G exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.G2584C:p.V862L exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.G2584C:p.V862L NA NA 4q35.2 NA NA NA NA rs1877731 0.68 0.68 0.676 0.689097 0.7753 0.502 0.6974 0.7035 0.7679 0.77 0.5 0.74 0.7 0.746 0.8 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.815 N 0.95 T -0.935 T 0.000 T 0.028 -2.294 0.004 3.06 0.228 1.610 11.374 -2.293665 NA 1 0.795732 0.734183 NA 0.739 NA 7.0163014 950 12 70953277 70953277 T C exonic PTPRB NA synonymous SNV PTPRB:NM_001206971:exon15:c.A3636G:p.A1212A,PTPRB:NM_001206972:exon15:c.A3636G:p.A1212A,PTPRB:NM_002837:exon16:c.A3906G:p.A1302A,PTPRB:NM_001109754:exon18:c.A4560G:p.A1520A exonic ENSG00000127329 NA synonymous SNV ENSG00000127329:ENST00000451516:exon15:c.A3636G:p.A1212A,ENSG00000127329:ENST00000538708:exon15:c.A3636G:p.A1212A,ENSG00000127329:ENST00000550857:exon15:c.A3636G:p.A1212A,ENSG00000127329:ENST00000261266:exon16:c.A3906G:p.A1302A,ENSG00000127329:ENST00000550358:exon17:c.A4296G:p.A1432A,ENSG00000127329:ENST00000334414:exon18:c.A4560G:p.A1520A,ENSG00000127329:ENST00000548122:exon18:c.A4197G:p.A1399A,ENSG00000127329:ENST00000551525:exon18:c.A4557G:p.A1519A NA NA 12q15 Score=758;Name=V$STAT3_01 Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs2303963 0.18 0.18 0.181 0.200879 0.2147 0.1369 0.1499 0.1853 0.3098 0.22 0.13 0.14 0.19 0.2162 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310638 NA NA 0.219813 0.176042 NA 0.232 NA 7.0159536 950 11 47185680 47185680 G A exonic C11orf49 NA synonymous SNV C11orf49:NM_001003678:exon9:c.G858A:p.Q286Q exonic ENSG00000149179 NA synonymous SNV ENSG00000149179:ENST00000378618:exon9:c.G858A:p.Q286Q Score=355;Name=lod=37 NA 11p11.2 NA Name=Pol2-4H8,Pol2(phosphoS2),Pol2 NA NA rs11039114 0.13 0.13 0.138 0.154952 0.2276 0.0744 0.1254 0.0174 0.3701 0.24 0.09 0.13 0.02 0.2011 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087332 NA NA 0.222843 0.047933 NA 0.08 NA 7.0151236 951 15 78390414 78390414 T C exonic SH2D7 NA nonsynonymous SNV SH2D7:NM_001101404:exon3:c.T410C:p.M137T exonic ENSG00000183476 NA nonsynonymous SNV ENSG00000183476:ENST00000328828:exon3:c.T410C:p.M137T,ENSG00000183476:ENST00000409568:exon3:c.T2C:p.M1T Score=472;Name=lod=111 NA 15q25.1 NA NA NA NA rs2289524 0.42 0.42 0.426 0.417732 0.4493 0.252 0.3415 0.5287 0.4601 0.45 0.28 0.41 0.53 0.4448 0.53 0.99 T 0.0 B 0.0 B . . 0.000 P -0.47 N 1.49 T -0.915 T 0.000 T 0.046 0.158 4.851 1.28 0.420 0.337 4.785 0.158248 NA 0 0.42447 0.516507 NA 0.355 NA 7.0147634 951 7 50467767 50467767 C A exonic IKZF1 NA synonymous SNV IKZF1:NM_001220772:exon3:c.C192A:p.P64P,IKZF1:NM_001220775:exon4:c.C327A:p.P109P,IKZF1:NM_001220776:exon4:c.C297A:p.P99P,IKZF1:NM_001220771:exon5:c.C573A:p.P191P,IKZF1:NM_001220773:exon5:c.C453A:p.P151P,IKZF1:NM_001220774:exon5:c.C423A:p.P141P,IKZF1:NM_001220768:exon6:c.C741A:p.P247P,IKZF1:NM_001220769:exon6:c.C615A:p.P205P,IKZF1:NM_001220770:exon6:c.C585A:p.P195P,IKZF1:NM_001220765:exon7:c.C876A:p.P292P,IKZF1:NM_001220766:exon7:c.C741A:p.P247P,IKZF1:NM_001220767:exon7:c.C711A:p.P237P,IKZF1:NM_006060:exon8:c.C1002A:p.P334P exonic ENSG00000185811 NA synonymous SNV ENSG00000185811:ENST00000346667:exon4:c.C312A:p.P104P,ENSG00000185811:ENST00000349824:exon5:c.C573A:p.P191P,ENSG00000185811:ENST00000357364:exon6:c.C741A:p.P247P,ENSG00000185811:ENST00000343574:exon7:c.C741A:p.P247P,ENSG00000185811:ENST00000359197:exon7:c.C876A:p.P292P,ENSG00000185811:ENST00000438033:exon7:c.C741A:p.P247P,ENSG00000185811:ENST00000439701:exon7:c.C876A:p.P292P,ENSG00000185811:ENST00000331340:exon8:c.C1002A:p.P334P Score=467;Name=lod=105 NA 7p12.2 Score=767;Name=V$PAX5_01 NA NA NA rs61731355 0.14 0.14 0.14 0.148962 0.2296 0.0546 0.196 0.0908 0.2086 0.21 0.05 0.18 0.11 0.2377 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499084 NA NA 0.184767 0.099603 ID=COSM453203;OCCURENCE=1(breast) 0.225 NA 7.0145996 951 6 117243260 117243260 T C exonic RFX6 NA synonymous SNV RFX6:NM_173560:exon13:c.T1383C:p.T461T exonic ENSG00000185002 NA synonymous SNV ENSG00000185002:ENST00000332958:exon13:c.T1383C:p.T461T Score=666;Name=lod=679 NA 6q22.1 NA NA NA NA rs7764347 0.29 0.29 0.28 0.339257 0.2217 0.4226 0.2939 0.2935 0.4683 0.22 0.41 0.28 0.27 0.2527 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962892 NA NA 0.177907 0.280754 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118179.2;CLNDSDB=.;CLNDSDBID=. 7.0143596 951 11 117096652 117096652 G A exonic PCSK7 NA synonymous SNV PCSK7:NM_004716:exon6:c.C855T:p.S285S exonic ENSG00000160613 NA synonymous SNV ENSG00000160613:ENST00000525027:exon4:c.C855T:p.S285S,ENSG00000160613:ENST00000320934:exon6:c.C855T:p.S285S Score=599;Name=lod=364 NA 11q23.3 Score=822;Name=V$COMP1_01 NA NA NA rs2277287 0.22 0.22 0.232 0.249401 0.1928 0.1508 0.2666 0.3381 0.2771 0.19 0.18 0.22 0.3 0.2517 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.589832 1.589832 NA 0.208101 0.302817 NA 0.152 NA 7.0140656 951 2 18757501 18757501 G C exonic NT5C1B,NT5C1B-RDH14 NA synonymous SNV NT5C1B-RDH14:NM_001199103:exon8:c.C1284G:p.L428L,NT5C1B:NM_033253:exon8:c.C1278G:p.L426L,NT5C1B:NM_001002006:exon9:c.C1458G:p.L486L,NT5C1B:NM_001199086:exon9:c.C1407G:p.L469L,NT5C1B:NM_001199087:exon9:c.C1509G:p.L503L,NT5C1B:NM_001199088:exon9:c.C1464G:p.L488L,NT5C1B-RDH14:NM_001199104:exon9:c.C1458G:p.L486L exonic ENSG00000185013,ENSG00000250741 NA synonymous SNV ENSG00000185013:ENST00000304081:exon8:c.C1278G:p.L426L,ENSG00000250741:ENST00000444297:exon8:c.C1284G:p.L428L,ENSG00000185013:ENST00000359846:exon9:c.C1458G:p.L486L,ENSG00000250741:ENST00000532967:exon9:c.C1458G:p.L486L,ENSG00000185013:ENST00000600945:exon9:c.C1458G:p.L486L Score=499;Name=lod=142 NA 2p24.2 NA NA NA NA rs3902946 0.3 0.3 0.33 0.314297 0.1948 0.1081 0.3127 0.6649 0.1769 0.21 0.11 0.29 0.66 0.2491 0.66 . . . . . . . . 0.000 P . . . . -0.953 T 0.000 T . -1.001 0.259 1.98 0.324 -0.321 6.944 -1.000911 NA NA 0.208837 0.588062 NA 0.297 NA 7.0139296 951 8 107782335 107782335 G A exonic ABRA NA synonymous SNV ABRA:NM_139166:exon1:c.C84T:p.S28S exonic ENSG00000174429 NA synonymous SNV ENSG00000174429:ENST00000311955:exon1:c.C84T:p.S28S Score=470;Name=lod=108 NA 8q23.1 Score=861;Name=V$E2F_03 NA NA NA rs11996457 0.26 0.26 0.304 0.280551 0.2247 0.1944 0.1686 0.5378 0.1585 0.21 0.18 0.18 0.51 0.2179 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807719 NA NA 0.211047 0.471857 ID=COSM1178517;OCCURENCE=1(prostate) 0.29 NA 7.0130196 951 19 35719020 35719020 C T exonic FAM187B NA stopgain FAM187B:NM_152481:exon1:c.G564A:p.W188X exonic ENSG00000177558 NA stopgain ENSG00000177558:ENST00000324675:exon1:c.G564A:p.W188X NA NA 19q13.12 NA NA NA NA rs541169 0.28 0.28 0.265 0.318291 0.3221 0.1746 0.3487 0.3124 0.4489 0.31 0.16 0.36 0.3 0.3372 0.36 0.26 T . . . . 0.943 N 0.000 P . . . . . . . . . 3.339 17.24 1.22 0.236 0.391 3.618 3.338827 3.338827 0.17 0.328256 0.319791 NA 0.283 NA 7.012444 951 7 64291976 64291976 G A exonic ZNF138 NA nonsynonymous SNV ZNF138:NM_006524:exon3:c.G278A:p.G93E,ZNF138:NM_001271638:exon4:c.G260A:p.G87E,ZNF138:NM_001271639:exon4:c.G356A:p.G119E exonic ENSG00000197008 NA nonsynonymous SNV ENSG00000197008:ENST00000397136:exon2:c.G185A:p.G62E,ENSG00000197008:ENST00000440155:exon3:c.G278A:p.G93E,ENSG00000197008:ENST00000307355:exon4:c.G356A:p.G119E,ENSG00000197008:ENST00000359735:exon4:c.G185A:p.G62E,ENSG00000197008:ENST00000437743:exon4:c.G260A:p.G87E NA NA 7q11.21 NA NA NA NA rs10949946 0.36 0.36 0.332 0.327077 0.4463 0.3829 0.4308 0.1316 0.3374 0.43 0.4 0.45 0.14 0.4141 0.46 0.18 T 0.001 B 0.005 B . . 1.000 P 0.055 N 3.58 T -0.948 T 0.000 T 0.091 -0.943 0.355 -1.7 -1.056 -0.464 5.000 -0.942902 NA 0.12 0.460698 0.175068 ID=COSM150303;OCCURENCE=1(stomach) 0.449 NA 7.0122354 951 10 17152994 17152994 G A exonic CUBN NA synonymous SNV CUBN:NM_001081:exon9:c.C939T:p.N313N exonic ENSG00000107611 NA synonymous SNV ENSG00000107611:ENST00000377833:exon9:c.C939T:p.N313N Score=446;Name=lod=87 NA 10p13 NA Name=CTCF NA NA rs1801223 0.23 0.23 0.24 0.214856 0.2584 0.25 0.2262 0.1944 0.1534 0.26 0.26 0.23 0.15 0.21 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112128 NA NA 0.18686 0.216977 NA 0.188 NA 7.0114066 951 11 6221169 6221169 A G exonic OR52W1 NA nonsynonymous SNV OR52W1:NM_001005178:exon1:c.A716G:p.H239R exonic ENSG00000175485 NA nonsynonymous SNV ENSG00000175485:ENST00000311352:exon1:c.A716G:p.H239R NA NA 11p15.4 NA NA NA NA rs10839531 0.71 0.71 0.681 0.678315 0.7932 0.9593 0.7522 0.2481 0.7996 0.79 0.96 0.79 0.25 0.7559 0.96 1 T 0.0 B 0.0 B 0.036 N 1.000 P -2.84 N 9.43 T -0.983 T 0.000 T 0.028 -2.951 0.001 2.72 0.280 2.889 8.326 -2.950738 NA 1 0.773161 0.329169 NA 0.696 NA 7.0110724 951 12 52661192 52661192 A G intergenic KRT7,KRT81 dist=18483;dist=18505 NA NA intronic ENSG00000170442 NA NA NA Score=295;Name=lod=21 NA 12q13.13 NA NA NA NA rs1870222 0.78 0.78 0.791 0.797524 0.841 0.6974 0.7262 0.8608 0.8211 0.84 0.68 0.68 0.88 0.8147 0.88 0 D . . . . . . . . . . . . -1.064 T 0.000 T . 0.468 6.538 2.94 0.513 3.239 7.397 0.467569 NA NA NA NA NA 0.891 NA 7.0109667 951 15 31197564 31197564 G A exonic FAN1 NA nonsynonymous SNV FAN1:NM_001146094:exon2:c.G698A:p.G233E,FAN1:NM_001146095:exon2:c.G698A:p.G233E,FAN1:NM_001146096:exon2:c.G698A:p.G233E,FAN1:NM_014967:exon2:c.G698A:p.G233E exonic ENSG00000198690 NA nonsynonymous SNV ENSG00000198690:ENST00000362065:exon2:c.G698A:p.G233E,ENSG00000198690:ENST00000561594:exon2:c.G698A:p.G233E,ENSG00000198690:ENST00000561607:exon2:c.G698A:p.G233E,ENSG00000198690:ENST00000565280:exon2:c.G698A:p.G233E,ENSG00000198690:ENST00000565466:exon2:c.G698A:p.G233E NA NA 15q13.2 NA NA NA NA rs4779794 0.45 0.45 0.44 0.422524 0.4374 0.7679 0.4539 0.0401 0.546 0.45 0.8 0.43 0.06 0.4594 0.8 1 T 0.418 B 0.121 B 0.789 N 1.000 P 1.87 L 1.01 T -0.903 T 0.000 T 0.07 -0.452 1.907 -2.16 -0.319 -0.063 6.106 -0.451723 NA 0.59 0.425698 0.112171 NA 0.478 NA 7.0108354 951 11 5602968 5602968 G A exonic OR52B6 NA nonsynonymous SNV OR52B6:NM_001005162:exon1:c.G862A:p.V288I exonic ENSG00000187747 NA nonsynonymous SNV ENSG00000187747:ENST00000345043:exon1:c.G862A:p.V288I NA NA 11p15.4 Score=678;Name=V$P53_01 NA NA NA rs10769086 0.89 0.89 0.903 0.894569 0.7604 0.9931 0.8833 0.969 0.8384 0.76 0.99 0.88 0.97 0.8101 0.99 1 T 0.002 B 0.009 B 0.001 N 1.000 P -0.15 N 8.74 T -0.903 T 0.000 T 0.021 -2.538 0.003 0.634 -0.330 -1.782 0.879 -2.537708 NA 0.89 0.753481 0.949597 NA 0.819 NA 7.0093524 951 5 180687212 180687212 C T exonic TRIM52 NA synonymous SNV TRIM52:NM_032765:exon1:c.G603A:p.L201L exonic ENSG00000183718 NA synonymous SNV ENSG00000183718:ENST00000327767:exon1:c.G603A:p.L201L Score=389;Name=lod=51 NA 5q35.3 NA NA Name=9 NA rs918388 0.18 0.18 0.188 0.197284 0.2256 0.0665 0.1859 0.3003 0.1718 0.21 0.03 0.18 0.29 0.2054 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233197 NA NA 0.226628 0.283023 NA 0.174 NA 7.0090386 951 14 21623290 21623290 T C exonic OR5AU1 NA nonsynonymous SNV OR5AU1:NM_001004731:exon1:c.A895G:p.I299V exonic ENSG00000169327 NA nonsynonymous SNV ENSG00000169327:ENST00000304418:exon1:c.A895G:p.I299V NA NA 14q11.2 NA NA NA NA rs7145814 0.72 0.72 0.721 0.723243 0.7942 0.496 0.696 0.851 0.7311 0.79 0.49 0.73 0.85 0.7429 0.85 1 T 0.0 B 0.0 B . . 1.000 P -1.58 N 9.46 T -0.953 T 0.000 T 0.057 -2.064 0.006 2.63 0.160 1.190 9.110 -2.064153 NA 1 0.788488 0.817975 NA 0.754 NA 7.0077454 951 18 28722039 28722039 G A exonic DSC1 NA synonymous SNV DSC1:NM_004948:exon9:c.C1183T:p.L395L,DSC1:NM_024421:exon9:c.C1183T:p.L395L exonic ENSG00000134765 NA synonymous SNV ENSG00000134765:ENST00000257197:exon9:c.C1183T:p.L395L,ENSG00000134765:ENST00000257198:exon9:c.C1183T:p.L395L Score=455;Name=lod=94 NA 18q12.1 NA NA Name=3 NA rs2577075 0.37 0.37 0.369 0.344649 0.2127 0.5655 0.3746 0.4085 0.1452 0.2 0.57 0.35 0.4 0.2591 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873084 NA NA 0.187209 0.401725 NA 0.254 NA 7.0076576 951 6 150346532 150346532 T C exonic RAET1L NA nonsynonymous SNV RAET1L:NM_130900:exon1:c.A76G:p.R26G exonic ENSG00000155918 NA nonsynonymous SNV ENSG00000155918:ENST00000286380:exon1:c.A76G:p.R26G,ENSG00000155918:ENST00000367341:exon1:c.A76G:p.R26G NA NA 6q25.1 NA Name=HA-E2F1 NA NA rs1543547 0.4 0.4 0.372 0.405152 0.4523 0.245 0.4035 0.4902 0.408 0.46 0.21 0.46 0.49 0.4236 0.49 0.38 T 0.0 B 0.0 B . . 1.000 P -1.245 N 5.77 T -1.095 T 0.000 T 0.026 -2.352 0.004 0.428 -0.417 -1.048 . -2.352112 NA 1 0.450116 0.473899 NA 0.42 NA 7.0073174 951 22 20942192 20942192 G A downstream MED15 NA NA NA ncRNA_exonic ENSG00000250261 NA NA NA Score=352;Name=lod=36 NA 22q11.21 Score=940;Name=V$AREB6_03 Name=Pol2-4H8 NA NA rs11913826 0.09 0.09 0.07 0.0589058 0.16 NA 0.0922 0.0363 0.0225 0.16 NA 0.11 0.05 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.136348 2.136348 NA NA NA NA 0.109 NA 7.0066666 951 12 55714876 55714876 C G exonic OR6C1 NA nonsynonymous SNV OR6C1:NM_001005182:exon1:c.C493G:p.H165D exonic ENSG00000205330 NA nonsynonymous SNV ENSG00000205330:ENST00000379668:exon1:c.C493G:p.H165D NA NA 12q13.2 NA NA NA NA rs7132347 0.81 0.81 0.8 0.780152 0.7753 0.8591 0.7695 0.8328 0.6401 0.77 0.88 0.78 0.83 0.7666 0.88 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.075 N 8.75 T -0.967 T 0.000 T 0.058 -2.184 0.005 3.73 0.578 -1.489 5.223 -2.184396 NA 1 0.78495 0.830609 NA 0.848 NA 7.0064834 951 12 55715119 55715119 G A exonic OR6C1 NA nonsynonymous SNV OR6C1:NM_001005182:exon1:c.G736A:p.V246I exonic ENSG00000205330 NA nonsynonymous SNV ENSG00000205330:ENST00000379668:exon1:c.G736A:p.V246I NA NA 12q13.2 NA NA NA NA rs7132916 0.81 0.81 0.808 0.780351 0.7753 0.8542 0.7695 0.8359 0.6421 0.77 0.88 0.78 0.83 0.767 0.88 0.37 T 0.0 B 0.006 B 0.004 N 1.000 P 2.06 M 8.04 T -0.910 T 0.000 T 0.04 0.006 4.045 -0.5 -0.225 -0.994 1.375 0.005984 NA 0.33 0.784884 0.832274 NA 0.848 NA 7.0061494 951 10 135438955 135438955 C T exonic FRG2B NA nonsynonymous SNV FRG2B:NM_001080998:exon4:c.G485A:p.R162Q exonic ENSG00000225899 NA nonsynonymous SNV ENSG00000225899:ENST00000425520:exon4:c.G485A:p.R162Q,ENSG00000225899:ENST00000443774:exon4:c.G488A:p.R163Q NA NA 10q26.3 NA NA NA NA rs201563622 NA NA 0.185 NA NA NA NA NA NA NA NA NA NA 0.3272 0.011 0.17 T 0.003 B 0.002 B 0.087 N 1.000 N 0.805 L 0.7 T -1.031 T 0.089 T 0.074 1.019 9.163 . 0.119 -0.834 . 1.019099 NA 0.16 NA NA NA 0.007 CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000068868.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 7.0061334 951 19 580665 580665 T C exonic BSG NA synonymous SNV BSG:NM_198591:exon3:c.T135C:p.A45A,BSG:NM_198589:exon4:c.T327C:p.A109A,BSG:NM_198590:exon4:c.T48C:p.A16A,BSG:NM_001728:exon5:c.T675C:p.A225A exonic ENSG00000172270 NA synonymous SNV ENSG00000172270:ENST00000346916:exon3:c.T135C:p.A45A,ENSG00000172270:ENST00000353555:exon4:c.T327C:p.A109A,ENSG00000172270:ENST00000545507:exon4:c.T48C:p.A16A,ENSG00000172270:ENST00000573216:exon4:c.T303C:p.A101A,ENSG00000172270:ENST00000573784:exon4:c.T48C:p.A16A,ENSG00000172270:ENST00000576984:exon4:c.T48C:p.A16A,ENSG00000172270:ENST00000333511:exon5:c.T675C:p.A225A NA NA 19p13.3 NA Name=ZNF263 Name=2 NA rs4682 0.3 0.3 0.257 0.326478 0.1899 0.4563 0.2853 0.3275 0.3609 0.18 0.46 0.26 0.31 0.2561 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317886 NA NA 0.214535 0.292821 ID=COSM440502,COSM440503;OCCURENCE=2(breast) 0.275 NA 7.0061316 951 7 99955866 99955866 G A UTR5 PILRB NM_178238:c.-60G>A NA NA exonic ENSG00000121716 NA nonsynonymous SNV ENSG00000121716:ENST00000448382:exon6:c.G307A:p.A103T,ENSG00000121716:ENST00000455145:exon6:c.G307A:p.A103T NA NA 7q22.1 NA NA Name=3 NA rs61735533 0.1 0.1 0.105 0.103235 0.1759 0.0278 0.1023 0.1014 0.1094 0.18 0.02 0.1 0.09 0.152 0.18 . . . . . . . . 1.000 P . . . . -1.046 T 0.000 T 0.117 1.931 12.41 1.24 0.450 0.277 4.659 1.930732 1.930732 0.28 NA NA NA 0.116 NA 7.0054334 952 17 81006629 81006629 C T exonic B3GNTL1 NA synonymous SNV B3GNTL1:NM_001009905:exon2:c.G93A:p.P31P exonic ENSG00000175711 NA synonymous SNV ENSG00000175711:ENST00000320865:exon2:c.G93A:p.P31P,ENSG00000175711:ENST00000571218:exon2:c.G93A:p.P31P NA NA 17q25.3 NA Name=eGFP-JunD,TCF4,PU.1,Pol2,ELF1_(SC-631),CEBPB,p300,Pol2(b),JunD,FOSL2,Pol2-4H8,c-Fos,c-Jun,STAT3,eGFP-FOS,HEY1,TBP Name=128 NA rs7406119 0.21 0.21 0.209 0.193291 0.2177 0.2073 0.1628 0.2194 0.1401 0.22 0.22 0.17 0.19 0.2023 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736699 NA NA 0.241977 0.199955 NA 0.254 NA 7.0046896 952 22 50664612 50664612 A G exonic TUBGCP6 NA nonsynonymous SNV TUBGCP6:NM_020461:exon9:c.T1700C:p.L567S exonic ENSG00000128159 NA nonsynonymous SNV ENSG00000128159:ENST00000248846:exon9:c.T1700C:p.L567S,ENSG00000128159:ENST00000439308:exon9:c.T1700C:p.L567S NA NA 22q13.33 NA NA NA NA rs4838865 0.82 0.82 0.839 0.858826 0.7773 0.8492 0.6902 0.9849 0.9018 0.77 0.83 0.71 0.98 0.7912 0.98 0.43 T 0.005 B 0.007 B 0.604 N 1.000 P -0.69 N 3.31 T -1.069 T 0.000 T 0.029 -0.852 0.544 -5.69 -1.647 0.685 4.432 -0.852497 NA 0.41 0.760349 0.949387 NA 0.848 NA 7.0044844 952 17 39634625 39634625 A G exonic KRT35 NA synonymous SNV KRT35:NM_002280:exon5:c.T987C:p.A329A exonic ENSG00000197079 NA synonymous SNV ENSG00000197079:ENST00000246639:exon5:c.T897C:p.A299A,ENSG00000197079:ENST00000393989:exon5:c.T987C:p.A329A Score=542;Name=lod=213 NA 17q21.2 NA Name=CTCF Name=5 NA rs7216017 0.53 0.53 0.53 0.576078 0.5398 0.3403 0.5591 0.736 0.6524 0.54 0.3 0.61 0.74 0.5784 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726443 NA NA 0.54407 0.703586 NA 0.594 NA 7.0043966 952 6 117246719 117246719 C T exonic RFX6 NA synonymous SNV RFX6:NM_173560:exon16:c.C1782T:p.H594H exonic ENSG00000185002 NA synonymous SNV ENSG00000185002:ENST00000332958:exon16:c.C1782T:p.H594H NA NA 6q22.1 Score=913;Name=V$NMYC_01 NA NA NA rs4946206 0.3 0.3 0.287 0.340855 0.2286 0.4236 0.2911 0.2958 0.4673 0.23 0.41 0.27 0.29 0.2558 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.85528 NA NA 0.177907 0.284158 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118181.2;CLNDSDB=.;CLNDSDBID=. 7.0043596 952 4 121957559 121957559 G A exonic NDNF NA synonymous SNV NDNF:NM_024574:exon4:c.C1567T:p.L523L exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon4:c.C1567T:p.L523L Score=617;Name=lod=430 NA 4q27 Score=838;Name=V$FAC1_01 NA NA NA rs34766411 0.23 0.23 0.21 0.246406 0.2058 0.2351 0.3429 0.1755 0.3272 0.22 0.22 0.31 0.2 0.2477 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000364 NA NA 0.210116 0.187926 NA 0.217 NA 7.0030506 952 2 74159734 74159734 T C intronic DGUOK NA NA NA exonic ENSG00000114956 NA nonsynonymous SNV ENSG00000114956:ENST00000356837:exon2:c.T152C:p.L51P NA NA 2p13.1 NA NA NA NA rs6737156 0.05 0.05 0.057 0.0684904 0.0408 0.001 0.036 0.1536 0.0746 0.04 NA 0.04 0.15 0.0933 0.15 0.06 T . . . . . . 1.000 N . . -5.11 D -0.476 T 0.049 T 0.111 0.608 7.273 -0.965 -0.141 -0.294 5.766 0.607539 NA 0.01 0.03002 0.113272 NA 0.065 NA 7.0025467 952 12 66725160 66725160 C T exonic HELB NA nonsynonymous SNV HELB:NM_033647:exon12:c.C2897T:p.P966L exonic ENSG00000127311 NA nonsynonymous SNV ENSG00000127311:ENST00000247815:exon12:c.C2897T:p.P966L,ENSG00000127311:ENST00000545134:exon12:c.C2897T:p.P966L NA NA 12q14.3 NA NA NA NA rs1185244 0.5 0.5 0.463 0.477835 0.4205 0.5585 0.6138 0.382 0.4867 0.43 0.59 0.57 0.43 0.4793 0.59 . . 0.016 B 0.002 B 0.520 N 1.000 P 1.04 L 2.72 T -0.986 T 0.000 T 0.084 0.82 8.303 2.41 0.216 0.076 7.300 0.820277 NA 0.2 0.431628 0.38266 NA 0.493 NA 7.0019054 952 12 48391416 48391416 G T exonic COL2A1 NA synonymous SNV COL2A1:NM_033150:exon6:c.C297A:p.G99G,COL2A1:NM_001844:exon7:c.C504A:p.G168G exonic ENSG00000139219 NA synonymous SNV ENSG00000139219:ENST00000337299:exon6:c.C297A:p.G99G,ENSG00000139219:ENST00000380518:exon7:c.C504A:p.G168G Score=670;Name=lod=704 NA 12q13.11 NA Name=FOXA1_(C-20),p300,FOXA1_(SC-101058) NA NA rs3737548 0.22 0.22 0.178 0.219249 0.2356 0.3036 0.2277 0.146 0.2086 0.22 0.27 0.24 0.13 0.2052 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583903 NA NA 0.22407 0.157286 NA 0.159 NA 7.0017966 952 19 40366374 40366374 G C exonic FCGBP NA synonymous SNV FCGBP:NM_003890:exon30:c.C13860G:p.P4620P exonic ENSG00000090920 NA synonymous SNV ENSG00000090920:ENST00000221347:exon30:c.C13860G:p.P4620P NA NA 19q13.2 NA Name=E2F6_(H-50),CTCF,HA-E2F1 Name=15 NA rs2053089 0.13 0.13 0.098 0.126198 0.2197 0.0466 0.2277 0.0363 0.1616 0.22 0.04 0.17 0.05 0.2047 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925283 NA NA 0.240521 0.080609 NA 0.181 NA 7.0017456 952 2 238277573 238277573 C A exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon7:c.G2712T:p.G904G,COL6A3:NM_057167:exon9:c.G3915T:p.G1305G,COL6A3:NM_004369:exon10:c.G4533T:p.G1511G exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon7:c.G2712T:p.G904G,ENSG00000163359:ENST00000409809:exon8:c.G3915T:p.G1305G,ENSG00000163359:ENST00000346358:exon9:c.G3933T:p.G1311G,ENSG00000163359:ENST00000347401:exon9:c.G3930T:p.G1310G,ENSG00000163359:ENST00000353578:exon9:c.G3915T:p.G1305G,ENSG00000163359:ENST00000295550:exon10:c.G4533T:p.G1511G NA NA 2q37.3 Score=833;Name=V$NFKB_Q6 NA NA NA rs2645774 0.25 0.25 0.218 0.265575 0.2177 0.256 0.3084 0.295 0.2546 0.2 0.26 0.3 0.27 0.2355 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932662 NA NA 0.212093 0.277803 NA 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080941.2;CLNDSDB=.;CLNDSDBID=. 7.0013736 952 21 45656774 45656774 C T exonic ICOSLG NA nonsynonymous SNV ICOSLG:NM_015259:exon3:c.G382A:p.V128I exonic ENSG00000160223 NA nonsynonymous SNV ENSG00000160223:ENST00000344330:exon3:c.G382A:p.V128I,ENSG00000160223:ENST00000400379:exon3:c.G382A:p.V128I,ENSG00000160223:ENST00000407780:exon3:c.G382A:p.V128I NA NA 21q22.3 NA NA NA NA rs11558819 0.25 0.25 0.222 0.269169 0.2873 0.1438 0.3271 0.3427 0.2393 0.28 0.13 0.29 0.3 0.2706 0.32 0.36 T 0.694 P 0.253 B 0.586 N 1.000 P 1.87 L 1.66 T -0.992 T 0.000 T 0.025 0.911 8.707 1.05 0.332 -0.355 4.037 0.911038 NA 0.07 0.274491 0.315462 ID=COSM149242;OCCURENCE=1(stomach) 0.29 NA 7.0009424 952 7 100608826 100608826 C G intergenic ACHE,MUC12 dist=115285;dist=4078 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000422757:exon6:c.C675G:p.G225G,ENSG00000169894:ENST00000319509:exon7:c.C2205G:p.G735G Score=417;Name=lod=66 NA 7q22.1 NA Name=Rad21,CTCF,ETS1,E2F6_(H-50),GABP,HMGN3,E2F6,c-Myc,USF-1 Name=5 NA rs73163794 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192006 NA NA NA NA NA 0.181 NA 7.0001 952 1 27755156 27755156 G A intronic WASF2 NA NA NA intronic ENSG00000158195 NA NA NA NA NA 1p36.11 NA Name=CTCF,Rad21 Name=71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335046 NA NA NA NA NA NA NA 7 952 1 55349512 55349512 C T intronic DHCR24 NA NA NA intronic ENSG00000116133 NA NA NA NA NA 1p32.3 NA Name=p300,FOXA2_(SC-6554) Name=63 NA NA NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691526 NA NA NA NA NA NA NA 7 952 1 110026720 110026720 A T intronic ATXN7L2 NA NA NA intronic ENSG00000162650 NA NA NA NA NA 1p13.3 NA Name=IRF1,TBP,Oct-2,HEY1,NFKB,ELF1_(SC-631),STAT1,eGFP-JunD,Pol2-4H8,HDAC2_(SC-6296),TAF7_(SQ-8),YY1_(C-20),HA-E2F1,Egr-1,Pol2(phosphoS2),YY1,SP1,NRSF,Pol2,HMGN3,POU2F2,ETS1,TAF1 Name=106 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640342 NA NA NA NA NA NA NA 7 952 1 154901497 154901497 T C intronic PMVK NA NA NA intronic ENSG00000163344 NA NA NA Score=378;Name=lod=46 NA 1q21.3 Score=919;Name=V$NCX_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465362 NA NA NA NA NA NA NA 7 952 2 75061867 75061867 C T intronic HK2 NA NA NA intronic ENSG00000159399 NA NA NA NA NA 2p12 NA Name=ZBTB7A_(SC-34508),HA-E2F1,ETS1 Name=53 NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110815 NA NA NA NA NA NA NA 7 952 2 91800155 91800155 G A intergenic NONE,LOC654342 dist=NONE;dist=24554 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=376;Name=lod=45 NA 2p11.1 Score=833;Name=V$TST1_01 Name=SUZ12,BRF2 NA NA rs2537118 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606248 NA NA NA NA NA 0.5 NA 7 952 2 91800380 91800380 T C intergenic NONE,LOC654342 dist=NONE;dist=24329 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=417;Name=lod=66 NA 2p11.1 NA Name=Ini1,TCF12 Name=13 NA rs6729464 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572662 NA NA NA NA NA 0.471 NA 7 952 2 91800409 91800409 T C intergenic NONE,LOC654342 dist=NONE;dist=24300 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=381;Name=lod=47 NA 2p11.1 NA Name=Ini1,TCF12 Name=13 NA rs2430013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285567 NA NA NA NA NA 0.471 NA 7 952 2 91800445 91800445 G A intergenic NONE,LOC654342 dist=NONE;dist=24264 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=480;Name=lod=119 NA 2p11.1 NA Name=Ini1,TCF12 Name=13 NA rs2430014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429692 NA NA NA NA NA 0.5 NA 7 952 2 91800491 91800491 T A intergenic NONE,LOC654342 dist=NONE;dist=24218 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=480;Name=lod=119 NA 2p11.1 NA Name=Ini1,TCF12 Name=13 NA rs2429350 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104479 NA NA NA NA NA 0.5 NA 7 952 2 91809385 91809385 C G intergenic NONE,LOC654342 dist=NONE;dist=15324 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=588;Name=lod=328 NA 2p11.1 NA Name=TCF4 Name=54 NA rs2310687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.129277 2.129277 NA NA NA NA 0.5 NA 7 952 2 91809404 91809404 G C intergenic NONE,LOC654342 dist=NONE;dist=15305 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=588;Name=lod=328 NA 2p11.1 NA Name=FOXA2_(SC-6554),HDAC2_(SC-6296),TCF4 Name=54 NA rs2215642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.684403 1.684403 NA NA NA NA 0.5 NA 7 952 2 133074683 133074683 T C intergenic ANKRD30BL,GPR39 dist=59141;dist=99464 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=369;Name=lod=42 NA 2q21.2 NA Name=STAT3 Name=7 NA rs7355726 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306498 NA NA NA NA NA 0.457 NA 7 952 2 133074745 133074745 A T intergenic ANKRD30BL,GPR39 dist=59203;dist=99402 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=295;Name=lod=21 NA 2q21.2 NA Name=STAT3 Name=7 NA rs7355686 NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278838 NA NA NA NA NA 0.5 NA 7 952 2 133074759 133074759 A C intergenic ANKRD30BL,GPR39 dist=59217;dist=99388 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=295;Name=lod=21 NA 2q21.2 NA Name=STAT3 Name=7 NA rs62169564 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359093 NA NA NA NA NA 0.5 NA 7 952 2 133076155 133076155 G A intergenic ANKRD30BL,GPR39 dist=60613;dist=97992 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=412;Name=lod=63 NA 2q21.2 NA Name=SETDB1 Name=9 NA rs2677622 NA NA NA 0.000399361 NA NA 0.0014 0.0008 NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511771 1.511771 NA NA NA NA 0.478 NA 7 952 3 49170159 49170159 C G intronic LAMB2 NA NA NA intronic ENSG00000172037 NA NA NA NA NA 3p21.31 NA Name=AP-2alpha,Pol2,Ini1,AP-2gamma,CTCF Name=133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227002 NA NA NA NA NA NA NA 7 952 5 41951615 41951615 C T intergenic FBXO4,GHR dist=9943;dist=472262 NA NA ncRNA_exonic ENSG00000239694 NA NA NA Score=770;Name=lod=1795 NA 5p13.1 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412876 NA NA NA NA NA NA NA 7 952 8 49832364 49832364 C T intronic SNAI2 NA NA NA intronic ENSG00000019549 NA NA NA NA NA 8q11.21 NA Name=CEBPB Name=40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.144068 NA NA NA NA NA NA NA 7 952 12 133353064 133353064 G A intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA Score=487;Name=lod=127 NA 12q24.33 NA Name=Pol2 Name=2 NA rs147191860 0.25 0.25 0.185 NA NA NA NA NA NA 0.35 0.23 0.23 0.13 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800575 NA NA NA NA NA NA NA 7 952 14 106134635 106134635 C G intergenic TMEM121,ELK2AP dist=138096;dist=1279 NA NA ncRNA_exonic ENSG00000253755 NA NA NA NA NA 14q32.33 Score=798;Name=V$PAX2_01 Name=Pol2 Name=5 NA rs10144458 0.2 0.2 0.127 NA NA NA NA NA NA 0.34 0.18 0.18 0.01 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419981 NA NA NA NA NA NA NA 7 952 14 106881273 106881273 C G intergenic LINC00226,LINC00221 dist=136307;dist=57182 NA NA ncRNA_exonic ENSG00000253467 NA NA NA Score=426;Name=lod=72 NA 14q32.33 NA Name=EBF,EBF1_(C-8) Name=2 NA rs73368477 0.27 0.27 0.261 NA NA NA NA NA NA 0.27 0.17 0.22 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375729 NA NA NA NA NA 0.072 NA 7 952 15 45142526 45142526 A G intergenic TRIM69,C15orf43 dist=82501;dist=106374 NA NA ncRNA_intronic ENSG00000259479 NA NA NA NA NA 15q21.1 NA Name=GATA-2 Name=41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210141 NA NA NA NA NA NA NA 7 952 16 12975294 12975294 T G intergenic CPPED1,SHISA9 dist=77550;dist=20183 NA NA ncRNA_exonic ENSG00000241932 NA NA NA Score=691;Name=lod=861 NA 16p13.12 NA Name=CTCF Name=8 NA rs115804293 0.02 0.02 0.022 0.0235623 NA NA 0.0101 0.084 NA NA NA 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483832 NA NA NA NA NA 0.036 NA 7 952 17 62499477 62499477 A G intronic DDX5 NA NA NA intronic ENSG00000108654 NA NA NA NA NA 17q23.3 NA Name=CEBPB Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.412234 1.412234 NA NA NA NA NA NA 7 952 18 21453312 21453312 A G intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 Score=706;Name=V$LUN1_01 Name=Pol2(b) NA NA NA NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321286 1.321286 NA NA NA NA NA NA 7 952 19 12595365 12595365 C T intronic ZNF709 NA NA NA intronic ENSG00000196826,ENSG00000242852,ENSG00000269755 NA NA NA NA NA 19p13.2 NA Name=ZNF263 Name=24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178775 NA NA NA NA NA NA NA 7 952 21 11181281 11181281 A T intergenic BAGE,NONE dist=82344;dist=NONE NA NA ncRNA_exonic ENSG00000234643 NA NA NA Score=752;Name=lod=1523 NA 21p11.1 NA Name=ZNF274 Name=30 NA rs1811010 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445436 NA NA NA NA NA 0.471 NA 7 952 21 11181510 11181510 A T intergenic BAGE,NONE dist=82573;dist=NONE NA NA ncRNA_exonic ENSG00000234643 NA NA NA Score=752;Name=lod=1523 NA 21p11.1 NA Name=ZNF274 Name=21 NA rs1811013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469327 NA NA NA NA NA 0.348 NA 7 952 21 11181588 11181588 T C intergenic BAGE,NONE dist=82651;dist=NONE NA NA ncRNA_exonic ENSG00000234643 NA NA NA Score=752;Name=lod=1523 NA 21p11.1 NA Name=ZNF274 Name=21 NA rs915520 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405146 NA NA NA NA ID=COSN166606;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.377 NA 7 952 12 6604430 6604430 A G intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA Name=CEBPB Name=19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589338 NA NA NA NA NA NA NA 6.9999587 952 13 75876560 75876560 C A intronic TBC1D4 NA NA NA intronic ENSG00000136111 NA NA NA NA NA 13q22.2 NA Name=TCF4 Name=18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009201 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.369159 2.369159 NA NA NA NA NA NA 6.999908 952 7 100608778 100608778 T C intergenic ACHE,MUC12 dist=115237;dist=4126 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000422757:exon6:c.T627C:p.P209P,ENSG00000169894:ENST00000319509:exon7:c.T2157C:p.P719P Score=358;Name=lod=38 NA 7q22.1 NA Name=USF-1,Rad21,CTCF,ETS1,GABP Name=5 NA rs73163792 NA NA 0.017 0.000798722 NA NA 0.0014 0.0023 NA NA NA NA NA 0.5001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123111 NA NA NA NA NA NA NA 6.9999 952 4 108575989 108575989 G A exonic PAPSS1 NA synonymous SNV PAPSS1:NM_005443:exon8:c.C963T:p.D321D exonic ENSG00000138801 NA synonymous SNV ENSG00000138801:ENST00000265174:exon8:c.C963T:p.D321D NA NA 4q25 NA Name=GR,CTCF,KAP1 Name=23 NA rs3733633 0.28 0.28 0.276 0.247604 0.2256 0.3512 0.2608 0.2466 0.1554 0.23 0.38 0.25 0.27 0.2298 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697921 NA NA 0.21186 0.2399 NA 0.297 NA 6.9994066 952 3 183774762 183774762 C A exonic HTR3C NA nonsynonymous SNV HTR3C:NM_130770:exon5:c.C489A:p.N163K exonic ENSG00000178084 NA nonsynonymous SNV ENSG00000178084:ENST00000318351:exon5:c.C489A:p.N163K Score=519;Name=lod=171 NA 3q27.1 NA NA NA NA rs6766410 0.49 0.49 0.485 0.464657 0.4632 0.6508 0.5274 0.3933 0.3262 0.47 0.63 0.49 0.39 0.4454 0.63 0.63 T 0.044 B 0.026 B 0.034 N 0.999 P 0.515 N -1.16 T -0.925 T 0.000 T 0.07 1.975 12.56 0.975 0.296 -0.501 4.003 1.974677 1.974677 0.12 0.425698 0.416024 ID=COSM149531;OCCURENCE=1(stomach) 0.406 NA 6.9990354 952 17 7011110 7011110 G C intronic ASGR2 NA NA NA intronic ENSG00000161944 NA NA NA NA NA 17p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0011 NA 0.04 D . . . . . . 1.000 N . . . . -1.014 T 0.057 T . -0.713 0.93 . -2.418 -0.149 . -0.712891 NA NA NA NA NA NA NA 6.9989 952 19 50314738 50314738 A C intronic FUZ NA NA NA exonic ENSG00000010361 NA nonsynonymous SNV ENSG00000010361:ENST00000528043:exon5:c.T248G:p.F83C NA NA 19q13.33 NA Name=SIX5,Znf143_(16618-1-AP),CEBPB Name=5 NA rs12973635 0.03 0.03 0.028 0.0329473 0.0646 NA 0.0346 0.0008 0.0767 0.07 NA 0.04 0.0041 0.0482 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098567 NA NA 0.055116 0.009079 NA 0.029 NA 6.9987507 952 7 131195712 131195712 G A exonic PODXL NA nonsynonymous SNV PODXL:NM_001018111:exon2:c.C581T:p.S194L,PODXL:NM_005397:exon2:c.C581T:p.S194L exonic ENSG00000128567 NA nonsynonymous SNV ENSG00000128567:ENST00000322985:exon2:c.C581T:p.S194L,ENSG00000128567:ENST00000378555:exon2:c.C581T:p.S194L,ENSG00000128567:ENST00000446198:exon2:c.C581T:p.S194L,ENSG00000128567:ENST00000537928:exon2:c.C581T:p.S194L,ENSG00000128567:ENST00000541194:exon2:c.C587T:p.S196L NA NA 7q32.3 NA NA NA NA rs12670788 0.39 0.39 0.37 0.363419 0.4324 0.6518 0.3948 0.0363 0.4151 0.46 0.61 0.36 0.06 0.4282 0.61 0.42 T 0.394 B 0.042 B 0.000 N 1.000 P 0 N 2.81 T -0.935 T 0.000 T 0.038 0.145 4.782 -2.05 -0.524 -0.157 1.192 0.145408 NA 0.3 0.47407 0.107127 NA 0.391 NA 6.9986634 952 19 9086145 9086145 G C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.C5670G:p.N1890K exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C5670G:p.N1890K NA NA 19p13.2 NA NA NA NA rs45611441 0.1 0.1 0.08 0.10603 0.1252 0.1746 0.0821 0.0121 0.1595 0.12 0.16 0.1 0.01 0.1116 0.16 0 D 0.0 B 0.0 B . . . . 0 N 4.29 T -0.932 T 0.000 T 0.02 -0.715 0.923 0.225 0.300 0.590 . -0.715125 NA 0.62 0.098361 0.021293 NA 0.029 NA 6.9981724 952 12 123926213 123926213 C G intergenic RILPL2,SNRNP35 dist=4949;dist=16438 NA NA ncRNA_exonic ENSG00000270445 NA NA NA Score=611;Name=lod=405 NA 12q24.31 NA Name=TCF12,NFKB,p300,BATF,Max,Pol2,USF2 Name=9 NA rs77242423 0.02 0.02 0.011 0.0219649 0.002 NA 0.0043 0.0696 0.0133 0.0026 NA 0.0028 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102003 NA NA NA NA NA 0.014 NA 6.998 952 12 123926325 123926325 G A intergenic RILPL2,SNRNP35 dist=5061;dist=16326 NA NA ncRNA_exonic ENSG00000270445 NA NA NA Score=483;Name=lod=123 NA 12q24.31 NA Name=NFKB,p300,USF2,Pol2 Name=9 NA rs142140516 0.0014 0.0014 0.001 0.00319489 0.002 NA NA 0.0008 0.0133 0.0026 NA NA 0.002 NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429061 NA NA NA NA NA NA NA 6.998 952 1 202124803 202124803 G T intronic PTPN7 NA NA NA intronic ENSG00000143851 NA NA NA NA NA 1q32.1 NA Name=GATA-1,RFX5_(N-494),Egr-1,Pol2-4H8,GATA-2 Name=66 NA NA NA NA NA 0.000798722 0.003 NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045211 NA NA NA NA NA NA NA 6.997 952 10 85984723 85984723 G A exonic LRIT2 NA synonymous SNV LRIT2:NM_001017924:exon2:c.C258T:p.L86L exonic ENSG00000204033 NA synonymous SNV ENSG00000204033:ENST00000372113:exon2:c.C258T:p.L86L,ENSG00000204033:ENST00000538192:exon2:c.C258T:p.L86L Score=502;Name=lod=146 NA 10q23.1 NA Name=NRSF NA NA rs11200928 0.22 0.22 0.188 0.208067 0.2346 0.3452 0.2925 0.0522 0.1902 0.22 0.31 0.28 0.07 0.2103 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832993 NA NA 0.225233 0.087608 NA 0.13 NA 6.9965336 952 5 147499891 147499891 G T exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon26:c.G2475T:p.E825D,SPINK5:NM_001127699:exon26:c.G2475T:p.E825D,SPINK5:NM_006846:exon26:c.G2475T:p.E825D exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon26:c.G2475T:p.E825D,ENSG00000133710:ENST00000359874:exon26:c.G2475T:p.E825D,ENSG00000133710:ENST00000398454:exon26:c.G2475T:p.E825D,ENSG00000133710:ENST00000508733:exon26:c.G2418T:p.E806D NA NA 5q32 NA NA NA NA rs2303070 0.14 0.14 0.131 0.174521 0.0855 0.2927 0.0648 0.1195 0.2965 0.09 0.3 0.07 0.09 0.1563 0.3 0.6 T 0.15 B 0.192 B 0.021 N 1.000 P 1.6 L 0.95 T -0.995 T 0.000 T 0.116 2.046 12.8 0.564 0.081 -0.614 6.218 2.045734 2.045734 0.17 0.095046 0.106663 NA 0.094 NA 6.9964874 952 19 10692000 10692000 T C exonic AP1M2 NA synonymous SNV AP1M2:NM_005498:exon6:c.A615G:p.S205S exonic ENSG00000129354 NA synonymous SNV ENSG00000129354:ENST00000591240:exon4:c.A378G:p.S126S,ENSG00000129354:ENST00000591676:exon5:c.A855G:p.S285S,ENSG00000129354:ENST00000250244:exon6:c.A615G:p.S205S,ENSG00000129354:ENST00000589684:exon6:c.A537G:p.S179S,ENSG00000129354:ENST00000590923:exon6:c.A615G:p.S205S NA NA 19p13.2 NA Name=Pol2,E2F6,BRCA1_(C-1863),USF2,CTCF,GTF2F1_(RAP-74),STAT1,Max,NANOG_(SC-33759),ZNF263,USF-1,TBP,c-Myc Name=3 NA rs1045361 0.36 0.36 0.287 0.372604 0.1779 0.6627 0.5115 0.2557 0.3333 0.17 0.67 0.45 0.24 0.2926 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060801 NA NA 0.199881 0.225146 ID=COSM1390157;OCCURENCE=1(large_intestine) 0.239 NA 6.9962856 952 12 49522605 49522605 C T exonic TUBA1B NA synonymous SNV TUBA1B:NM_006082:exon4:c.G492A:p.K164K exonic ENSG00000123416 NA synonymous SNV ENSG00000123416:ENST00000336023:exon4:c.G492A:p.K164K Score=737;Name=lod=1314 NA 12q13.12 NA Name=CTCF_(SC-5916) NA NA rs1057548 0.43 0.43 0.41 0.453275 0.327 0.6806 0.3415 0.3427 0.5777 0.32 0.68 0.36 0.35 0.3434 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.670713 1.670713 NA NA NA NA 0.261 NA 6.9962666 952 4 3941939 3941939 G A intergenic ADRA2C,FAM86EP dist=171686;dist=1730 NA NA ncRNA_exonic ENSG00000251271 NA NA NA Score=607;Name=lod=391 NA 4p16.3 NA NA Name=34 NA NA NA NA NA 0.00139776 0.005 NA 0.0029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27985 NA NA NA NA NA NA NA 6.995 953 16 25255506 25255506 C T exonic ZKSCAN2 NA synonymous SNV ZKSCAN2:NM_001012981:exon6:c.G1581A:p.K527K exonic ENSG00000155592 NA synonymous SNV ENSG00000155592:ENST00000328086:exon6:c.G1581A:p.K527K Score=455;Name=lod=94 NA 16p12.1 Score=892;Name=V$NRF2_01 NA NA NA rs11642611 0.3 0.3 0.302 0.333866 0.2107 0.3294 0.3026 0.4713 0.3016 0.21 0.31 0.25 0.47 0.2543 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195727 NA NA 0.207442 0.451297 NA 0.362 NA 6.9942246 953 11 5322737 5322737 A G exonic OR51B4 NA nonsynonymous SNV OR51B4:NM_033179:exon1:c.T440C:p.M147T exonic ENSG00000183251 NA nonsynonymous SNV ENSG00000183251:ENST00000380224:exon1:c.T440C:p.M147T NA NA 11p15.4 NA NA NA NA rs10837771 0.47 0.47 0.415 0.442292 0.4473 0.747 0.4582 0.1195 0.5481 0.44 0.76 0.48 0.15 0.4562 0.76 0.4 T 0.016 B 0.015 B 0.517 N 1.000 P 0.835 L 1.28 T -0.954 T 0.000 T 0.022 -0.855 0.539 2.63 0.386 0.397 8.322 -0.854514 NA 0.41 0.435769 0.165834 NA 0.348 NA 6.9940644 953 19 9346173 9346173 A G intergenic OR7D4,OR7E24 dist=20626;dist=15547 NA NA ncRNA_exonic ENSG00000188314 NA NA NA Score=491;Name=lod=132 NA 19p13.2 NA NA NA NA rs3926919 0.01 0.01 NA 0.0279553 NA NA 0.0058 0.1029 NA NA NA 0.01 0.06 0.006 0.06 1 T . . . . . . . . . . . . -1.011 T 0.005 T . -1.914 0.008 1.54 0.464 6.325 8.605 -1.914406 NA 1 NA NA NA 0.029 NA 6.994 953 15 100269749 100269749 G A exonic LYSMD4 NA nonsynonymous SNV LYSMD4:NM_152449:exon6:c.C473T:p.A158V exonic ENSG00000183060 NA nonsynonymous SNV ENSG00000183060:ENST00000409796:exon3:c.C470T:p.A157V,ENSG00000183060:ENST00000332728:exon4:c.C470T:p.A157V,ENSG00000183060:ENST00000545021:exon4:c.C92T:p.A31V,ENSG00000183060:ENST00000344791:exon6:c.C473T:p.A158V NA NA 15q26.3 NA NA NA NA rs8041089 0.16 0.16 0.135 0.167133 0.1163 0.2024 0.2392 0.1929 0.0971 0.12 0.18 0.19 0.18 0.1197 0.2 0.4 T 0.005 B 0.002 B 0.103 N 1.000 P -0.6 N 2.21 T -0.979 T 0.000 T 0.024 -1.533 0.016 1.6 0.283 -0.162 2.667 -1.533147 NA 0.53 0.103721 0.163187 ID=COSM1599991;OCCURENCE=1(central_nervous_system) 0.203 NA 6.9936124 953 16 25258035 25258035 A G exonic ZKSCAN2 NA synonymous SNV ZKSCAN2:NM_001012981:exon5:c.T1482C:p.N494N exonic ENSG00000155592 NA synonymous SNV ENSG00000155592:ENST00000328086:exon5:c.T1482C:p.N494N Score=468;Name=lod=106 NA 16p12.1 NA Name=CEBPB NA NA rs11649280 0.3 0.3 0.317 0.335863 0.2107 0.3294 0.3026 0.4758 0.3057 0.21 0.31 0.25 0.48 0.255 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689244 NA NA 0.207791 0.452435 NA 0.37 NA 6.9931756 953 7 80387766 80387766 C T exonic SEMA3C NA synonymous SNV SEMA3C:NM_006379:exon15:c.G1524A:p.Q508Q exonic ENSG00000075223 NA synonymous SNV ENSG00000075223:ENST00000265361:exon15:c.G1524A:p.Q508Q,ENSG00000075223:ENST00000419255:exon15:c.G1524A:p.Q508Q,ENSG00000075223:ENST00000544525:exon15:c.G1578A:p.Q526Q Score=565;Name=lod=264 NA 7q21.11 Score=936;Name=V$IK2_01 NA NA NA rs1058425 0.38 0.38 0.401 0.412141 0.1928 0.4286 0.3285 0.6498 0.3589 0.19 0.45 0.31 0.66 0.2866 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890258 NA NA 0.194419 0.601453 NA 0.399 NA 6.9928476 953 19 18377274 18377274 A G exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.T1076C:p.M359T,KIAA1683:NM_001145305:exon3:c.T938C:p.M313T,KIAA1683:NM_025249:exon3:c.T1076C:p.M359T exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.T1076C:p.M359T,ENSG00000130518:ENST00000600328:exon3:c.T1076C:p.M359T,ENSG00000130518:ENST00000600359:exon3:c.T938C:p.M313T NA NA 19p13.11 NA NA NA NA rs3746186 0.53 0.53 0.518 0.54373 0.4294 0.5496 0.5908 0.6929 0.4202 0.43 0.52 0.53 0.69 0.4862 0.69 0.37 T 0.0 B 0.0 B 0.210 N 1.000 P 0.205 N 3.86 T -1.011 T 0.000 T 0.043 -0.138 3.325 -2.6 -0.751 -0.495 4.419 -0.137994 NA 0.3 0.426163 0.672492 NA 0.507 NA 6.9915704 953 17 4883818 4883818 C G exonic CAMTA2 NA nonsynonymous SNV CAMTA2:NM_001171166:exon8:c.G805C:p.A269P,CAMTA2:NM_001171168:exon8:c.G796C:p.A266P,CAMTA2:NM_001171167:exon9:c.G868C:p.A290P,CAMTA2:NM_015099:exon9:c.G799C:p.A267P exonic ENSG00000108509 NA nonsynonymous SNV ENSG00000108509:ENST00000361571:exon8:c.G796C:p.A266P,ENSG00000108509:ENST00000381311:exon8:c.G805C:p.A269P,ENSG00000108509:ENST00000348066:exon9:c.G799C:p.A267P,ENSG00000108509:ENST00000358183:exon9:c.G799C:p.A267P,ENSG00000108509:ENST00000414043:exon9:c.G868C:p.A290P,ENSG00000108509:ENST00000572543:exon9:c.G814C:p.A272P NA NA 17p13.2 NA NA NA NA rs238234 0.75 0.75 0.738 0.71865 0.7843 0.499 0.8501 0.9486 0.4734 0.79 0.49 0.83 0.93 0.7511 0.94 0.38 T 0.0 B 0.0 B 0.141 N 1.000 P -0.55 N 1.01 T -1.043 T 0.000 T 0.054 -2.977 0.001 -2.14 -0.994 0.294 1.380 -2.976681 NA 0.04 0.806821 0.936527 NA 0.804 NA 6.9911124 953 1 24710405 24710405 A G exonic STPG1 NA nonsynonymous SNV STPG1:NM_178122:exon3:c.T137C:p.M46T,STPG1:NM_001199012:exon4:c.T278C:p.M93T,STPG1:NM_001199013:exon4:c.T278C:p.M93T,STPG1:NM_001199014:exon5:c.T2C:p.M1T exonic ENSG00000001460 NA nonsynonymous SNV ENSG00000001460:ENST00000440416:exon2:c.T137C:p.M46T,ENSG00000001460:ENST00000003583:exon3:c.T137C:p.M46T,ENSG00000001460:ENST00000337248:exon4:c.T278C:p.M93T,ENSG00000001460:ENST00000374409:exon4:c.T278C:p.M93T NA NA 1p36.11 NA NA NA NA rs11538189 0.1 0.1 0.1 0.108826 0.1133 0.002 0.1052 0.2277 0.0562 0.13 NA 0.1 0.19 0.1066 0.22 0.64 T 0.0 B 0.0 B 0.374 N 1.000 P -1.39 N . . -0.965 T 0.000 T 0.295 -1.557 0.015 1.88 0.446 0.639 5.779 -1.557354 NA 0 0.123488 0.223786 NA 0.101 NA 6.9899454 953 5 70809169 70809169 A G exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon19:c.A4405G:p.K1469E exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon19:c.A4405G:p.K1469E NA NA 5q13.2 NA NA NA NA rs1698063 0.4 0.4 0.395 0.399561 0.4583 0.3621 0.3055 0.3797 0.4714 0.46 0.38 0.33 0.37 0.4265 0.46 0.37 T 0.178 B 0.039 B 0.916 N 1.000 P 0.895 L 3.01 T -0.922 T 0.000 T 0.033 0.786 8.146 2.1 0.193 0.269 4.048 0.78638 NA 0.6 0.458835 0.364238 NA 0.391 NA 6.9896984 953 11 118886117 118886117 C T exonic CCDC84 NA synonymous SNV CCDC84:NM_198489:exon10:c.C906T:p.R302R exonic ENSG00000186166 NA synonymous SNV ENSG00000186166:ENST00000334418:exon10:c.C906T:p.R302R NA NA 11q23.3 NA Name=Rad21,CTCF,YY1_(C-20),Pol2(phosphoS2),Pol2,Pol2(b),Pol2-4H8,YY1,CTCF_(SC-5916) Name=21 NA rs10111 0.21 0.21 0.21 0.251797 0.2286 0.0685 0.2334 0.3517 0.3425 0.22 0.05 0.24 0.36 0.2236 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927626 NA NA 0.225198 0.337727 NA 0.297 NA 6.9892686 953 6 44255459 44255459 G A exonic TCTE1 NA nonsynonymous SNV TCTE1:NM_182539:exon2:c.C104T:p.P35L exonic ENSG00000146221 NA nonsynonymous SNV ENSG00000146221:ENST00000371505:exon2:c.C104T:p.P35L NA NA 6p21.1 NA NA NA NA rs324146 0.67 0.67 0.652 0.644569 0.7843 0.6002 0.8098 0.4773 0.6554 0.78 0.61 0.81 0.48 0.7517 0.81 0.04 D 0.0 B 0.001 B 0.841 N 1.000 P 1.95 M 2.11 T -0.971 T 0.020 T 0.041 2.27 13.55 0.555 -0.014 -0.155 3.526 2.269869 2.269869 0.04 0.80814 0.548797 NA 0.681 NA 6.9891934 953 12 48920006 48920006 G A exonic OR8S1 NA nonsynonymous SNV OR8S1:NM_001005203:exon1:c.G592A:p.A198T exonic ENSG00000197376 NA nonsynonymous SNV ENSG00000197376:ENST00000310194:exon1:c.G592A:p.A198T NA NA 12q13.11 NA NA NA NA rs12425518 0.32 0.32 0.286 0.346845 0.0755 0.5407 0.3991 0.4304 0.2761 0.08 0.53 0.36 0.39 0.2013 0.53 0.08 T 0.094 B 0.064 B 0.120 N 1.000 P 0.535 N 1.21 T -0.912 T 0.000 T 0.084 1.154 9.699 -1.34 -0.135 -0.478 4.836 1.154072 NA 0.24 0.068605 0.376759 NA 0.239 NA 6.9879284 953 22 19750773 19750773 T C exonic TBX1 NA synonymous SNV TBX1:NM_005992:exon4:c.T420C:p.F140F,TBX1:NM_080646:exon4:c.T420C:p.F140F,TBX1:NM_080647:exon4:c.T420C:p.F140F exonic ENSG00000184058 NA synonymous SNV ENSG00000184058:ENST00000329705:exon4:c.T420C:p.F140F,ENSG00000184058:ENST00000332710:exon4:c.T420C:p.F140F,ENSG00000184058:ENST00000359500:exon4:c.T420C:p.F140F Score=601;Name=lod=371 NA 22q11.21 NA Name=SUZ12 NA NA rs41298814 0.25 0.25 0.209 0.228235 0.2187 0.4583 0.2781 0.0227 0.2434 0.2 0.48 0.28 0.02 0.2352 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.895383 1.895383 NA 0.225581 0.044485 NA 0.312 NA 6.9871856 953 12 29642573 29642573 A C exonic OVCH1 NA nonsynonymous SNV OVCH1:NM_183378:exon6:c.T682G:p.W228G exonic ENSG00000187950 NA nonsynonymous SNV ENSG00000187950:ENST00000318184:exon6:c.T682G:p.W228G NA NA 12p11.22 NA NA NA NA rs967181 0.43 0.43 0.428 0.422524 0.4692 0.5685 0.3012 0.3585 0.3967 0.46 0.56 0.28 0.35 0.4433 0.56 1 T 0.0 B 0.0 B . . 1.000 P -2.905 N -2.09 D -0.962 T 0.000 T 0.073 -2.714 0 0.083 -0.301 0.817 1.020 -2.714028 NA 1 0.433802 0.350592 ID=COSM1361161;OCCURENCE=1(large_intestine) 0.442 NA 6.9870314 953 13 21562948 21562948 G A exonic LATS2 NA nonsynonymous SNV LATS2:NM_014572:exon4:c.C971T:p.A324V exonic ENSG00000150457 NA nonsynonymous SNV ENSG00000150457:ENST00000382592:exon4:c.C971T:p.A324V,ENSG00000150457:ENST00000542899:exon4:c.C971T:p.A324V NA NA 13q12.11 NA NA NA NA rs558614 0.65 0.65 0.626 0.629593 0.7972 0.5387 0.6888 0.5129 0.6667 0.78 0.55 0.73 0.5 0.7345 0.82 0.34 T 0.216 B 0.028 B 0.912 N 1.000 P -0.695 N 0.29 T -0.968 T 0.000 T 0.094 0.517 6.803 2.72 0.682 6.231 12.146 0.517276 NA 0.35 0.81608 0.575549 ID=COSM1477132,COSM432208;OCCURENCE=1(breast) 0.58 NA 6.9855534 953 19 5696146 5696146 G A exonic LONP1 NA synonymous SNV LONP1:NM_001276480:exon13:c.C1344T:p.T448T,LONP1:NM_004793:exon13:c.C1932T:p.T644T,LONP1:NM_001276479:exon14:c.C1740T:p.T580T exonic ENSG00000196365 NA synonymous SNV ENSG00000196365:ENST00000360614:exon13:c.C1932T:p.T644T,ENSG00000196365:ENST00000540670:exon13:c.C1344T:p.T448T,ENSG00000196365:ENST00000590729:exon13:c.C1542T:p.T514T,ENSG00000196365:ENST00000585374:exon14:c.C1590T:p.T530T,ENSG00000196365:ENST00000593119:exon14:c.C1740T:p.T580T Score=422;Name=lod=69 NA 19p13.3 NA Name=Pol2,Pol2-4H8 NA NA rs3745624 0.2 0.2 0.19 0.199081 0.2386 0.0913 0.2622 0.2655 0.135 0.22 0.1 0.24 0.26 0.2055 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078798 NA NA 0.237326 0.254653 NA 0.246 NA 6.9852406 954 7 140080087 140080087 C G exonic SLC37A3 NA nonsynonymous SNV SLC37A3:NM_032295:exon3:c.G193C:p.V65L,SLC37A3:NM_207113:exon3:c.G193C:p.V65L exonic ENSG00000157800 NA nonsynonymous SNV ENSG00000157800:ENST00000326232:exon3:c.G193C:p.V65L,ENSG00000157800:ENST00000340308:exon3:c.G193C:p.V65L,ENSG00000157800:ENST00000429996:exon3:c.G193C:p.V65L,ENSG00000157800:ENST00000447932:exon3:c.G193C:p.V65L,ENSG00000157800:ENST00000462881:exon3:c.G193C:p.V65L,ENSG00000157800:ENST00000469193:exon3:c.G193C:p.V65L,ENSG00000157800:ENST00000477571:exon3:c.G193C:p.V65L NA NA 7q34 NA NA NA NA rs62490396 0.39 0.39 0.353 0.374401 0.4592 0.4474 0.3602 0.2103 0.4438 0.46 0.44 0.39 0.21 0.4325 0.46 0.43 T 0.013 B 0.009 B 0.064 N 1.000 P -0.345 N 2.59 T -0.951 T 0.000 T 0.161 0.821 8.305 1.88 1.078 0.407 4.757 0.820809 NA 0.41 0.458256 0.251702 ID=COSM150404;OCCURENCE=1(stomach) 0.428 NA 6.9833774 954 1 152079989 152079989 T G exonic TCHH NA nonsynonymous SNV TCHH:NM_007113:exon3:c.A5704C:p.K1902Q exonic ENSG00000159450 NA nonsynonymous SNV ENSG00000159450:ENST00000368804:exon2:c.A5704C:p.K1902Q NA NA 1q21.3 NA NA NA NA rs1131471 0.51 0.51 0.516 0.578075 0.4016 0.5992 0.6484 0.5136 0.7751 0.42 0.58 0.58 0.52 0.5093 0.58 0.44 T 0.0 B 0.0 B . . 1.000 P 0 N 3.43 T -0.899 T 0.003 T 0.034 -1.253 0.05 1.34 -0.365 -1.102 5.435 -1.252895 NA NA 0.439628 0.463868 NA 0.536 NA 6.9828054 954 9 19058921 19058921 G A exonic HAUS6 NA nonsynonymous SNV HAUS6:NM_001270890:exon16:c.C1739T:p.A580V,HAUS6:NM_017645:exon16:c.C1844T:p.A615V exonic ENSG00000147874 NA nonsynonymous SNV ENSG00000147874:ENST00000415524:exon5:c.C392T:p.A131V,ENSG00000147874:ENST00000380496:exon13:c.C1436T:p.A479V,ENSG00000147874:ENST00000380502:exon16:c.C1844T:p.A615V NA NA 9p22.1 NA NA NA NA rs61744950 0.1 0.1 0.075 0.0964457 0.1004 0.0288 0.1527 0.1074 0.1074 0.11 0.02 0.17 0.12 0.1218 0.17 0.76 T 0.037 B 0.013 B 0.916 N 1.000 P 0.345 N 1.83 T -1.045 T 0.000 T 0.171 -1.426 0.021 0.075 0.033 0.516 2.798 -1.425946 NA 0.25 0.128811 0.104176 NA 0.152 NA 6.9823224 954 4 26417136 26417136 T C exonic RBPJ NA synonymous SNV RBPJ:NM_015874:exon4:c.T195C:p.S65S,RBPJ:NM_203283:exon4:c.T189C:p.S63S,RBPJ:NM_005349:exon5:c.T234C:p.S78S,RBPJ:NM_203284:exon5:c.T192C:p.S64S exonic ENSG00000168214 NA synonymous SNV ENSG00000168214:ENST00000342320:exon4:c.T192C:p.S64S,ENSG00000168214:ENST00000345843:exon4:c.T189C:p.S63S,ENSG00000168214:ENST00000348160:exon4:c.T195C:p.S65S,ENSG00000168214:ENST00000361572:exon4:c.T234C:p.S78S,ENSG00000168214:ENST00000504907:exon4:c.T192C:p.S64S,ENSG00000168214:ENST00000507561:exon4:c.T129C:p.S43S,ENSG00000168214:ENST00000507574:exon4:c.T129C:p.S43S,ENSG00000168214:ENST00000510778:exon4:c.T303C:p.S101S,ENSG00000168214:ENST00000515573:exon4:c.T129C:p.S43S,ENSG00000168214:ENST00000342295:exon5:c.T234C:p.S78S,ENSG00000168214:ENST00000355476:exon5:c.T192C:p.S64S,ENSG00000168214:ENST00000506956:exon5:c.T192C:p.S64S,ENSG00000168214:ENST00000511546:exon5:c.T192C:p.S64S,ENSG00000168214:ENST00000512351:exon5:c.T192C:p.S64S,ENSG00000168214:ENST00000512671:exon5:c.T234C:p.S78S,ENSG00000168214:ENST00000514675:exon5:c.T192C:p.S64S,ENSG00000168214:ENST00000514730:exon5:c.T192C:p.S64S,ENSG00000168214:ENST00000504938:exon6:c.T129C:p.S43S Score=599;Name=lod=363 NA 4p15.2 NA Name=CTCF NA Score=96;Name=1718118_0_-_96 rs2270226 0.51 0.51 0.457 0.511781 0.5606 0.5308 0.683 0.3328 0.5624 0.56 0.54 0.65 0.3 0.562 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.439401 1.439401 NA 0.56186 0.371766 NA 0.5 NA 6.9822066 954 13 52603241 52603241 A G exonic UTP14C NA nonsynonymous SNV UTP14C:NM_021645:exon2:c.A301G:p.T101A exonic ENSG00000253797 NA nonsynonymous SNV ENSG00000253797:ENST00000521776:exon2:c.A301G:p.T101A NA NA 13q14.3 NA NA NA NA rs3742290 0.09 0.09 0.073 0.0800719 0.1203 0.0546 0.1239 0.0431 0.0838 0.12 0.06 0.14 0.05 0.112 0.14 0.86 T 0.004 B 0.015 B 0.910 N 1.000 P -0.28 N 2.38 T -0.942 T 0.000 T 0.036 -0.723 0.898 0.149 -0.059 0.029 5.636 -0.723189 NA 0.9 0.118953 0.063096 ID=COSM147692;OCCURENCE=1(stomach) 0.13 NA 6.9820804 954 5 167553880 167553880 C T exonic TENM2 NA synonymous SNV TENM2:NM_001122679:exon12:c.C2331T:p.H777H exonic ENSG00000145934 NA synonymous SNV ENSG00000145934:ENST00000520394:exon9:c.C1635T:p.H545H,ENSG00000145934:ENST00000403607:exon10:c.C1830T:p.H610H,ENSG00000145934:ENST00000519204:exon11:c.C1968T:p.H656H,ENSG00000145934:ENST00000518659:exon12:c.C2331T:p.H777H,ENSG00000145934:ENST00000545108:exon12:c.C2331T:p.H777H Score=790;Name=lod=2163 NA 5q34 Score=838;Name=V$USF_01 NA NA NA rs10055910 0.17 0.17 0.156 0.155351 0.2336 0.003 0.1758 0.2572 0.0798 0.24 0.01 0.17 0.24 0.2179 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031683 NA NA 0.233549 0.21953 NA 0.196 NA 6.9816176 954 9 32541532 32541532 A G exonic TOPORS NA synonymous SNV TOPORS:NM_001195622:exon2:c.T2796C:p.D932D,TOPORS:NM_005802:exon3:c.T2991C:p.D997D exonic ENSG00000197579 NA synonymous SNV ENSG00000197579:ENST00000379858:exon2:c.T2796C:p.D932D,ENSG00000197579:ENST00000360538:exon3:c.T2991C:p.D997D Score=463;Name=lod=102 NA 9p21.1 NA NA NA NA rs12348918 0.13 0.13 0.121 0.114217 0.2545 0.0079 0.1412 0.093 0.089 0.25 0.01 0.16 0.09 0.1852 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475289 NA NA 0.245465 0.125057 ID=COSM1132514;OCCURENCE=1(prostate) 0.109 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000081332.1;CLNDSDB=.;CLNDSDBID=. 6.9815016 954 19 3611972 3611972 G A exonic CACTIN NA synonymous SNV CACTIN:NM_001080543:exon10:c.C2226T:p.N742N,CACTIN:NM_021231:exon10:c.C2226T:p.N742N exonic ENSG00000105298 NA synonymous SNV ENSG00000105298:ENST00000591726:exon1:c.C303T:p.N101N,ENSG00000105298:ENST00000221899:exon10:c.C2022T:p.N674N,ENSG00000105298:ENST00000248420:exon10:c.C2226T:p.N742N,ENSG00000105298:ENST00000429344:exon10:c.C2226T:p.N742N,ENSG00000105298:ENST00000585942:exon10:c.C2226T:p.N742N Score=628;Name=lod=475 NA 19p13.3 NA NA NA NA rs2158935 0.46 0.46 0.422 0.433107 0.5805 0.3313 0.6066 0.3033 0.4387 0.58 0.33 0.61 0.32 0.5342 0.61 0.73 T . . . . . . 0.000 P . . . . -0.938 T 0.000 T . 2.367 13.87 -3.21 -0.334 -0.748 6.367 2.366515 2.366515 0.09 0.570554 0.359891 NA 0.514 NA 6.9814126 954 19 33075916 33075916 G A exonic PDCD5 NA synonymous SNV PDCD5:NM_004708:exon3:c.G165A:p.R55R exonic ENSG00000105185 NA nonsynonymous SNV ENSG00000105185:ENST00000221784:exon3:c.G160A:p.V54I Score=617;Name=lod=430 NA 19q13.11 NA NA NA NA rs34724018 0.04 0.04 0.052 0.0517173 0.002 NA 0.0202 0.1838 NA 0.0013 NA 0.02 0.18 0.0159 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713736 1.713736 NA 0.001395 0.159101 NA 0.116 NA 6.980705 954 19 39789115 39789115 A G exonic IFNL1 NA nonsynonymous SNV IFNL1:NM_172140:exon5:c.A562G:p.N188D exonic ENSG00000182393 NA nonsynonymous SNV ENSG00000182393:ENST00000333625:exon5:c.A562G:p.N188D NA NA 19q13.2 NA NA NA NA rs30461 0.23 0.23 0.262 0.251597 0.1123 0.0377 0.134 0.711 0.0777 0.11 0.04 0.16 0.68 0.1362 0.68 1 T 0.0 B 0.0 B 0.571 N 1.000 P -2.275 N 3.03 T -0.985 T 0.000 T 0.009 -1.262 0.047 1.19 -0.017 0.481 5.772 -1.261791 NA 1 0.106047 0.61961 NA 0.384 NA 6.9787864 954 10 99410790 99410790 T C exonic PI4K2A NA synonymous SNV PI4K2A:NM_018425:exon2:c.T528C:p.P176P exonic ENSG00000155252,ENSG00000249967 NA synonymous SNV ENSG00000155252:ENST00000370631:exon2:c.T528C:p.P176P,ENSG00000249967:ENST00000370649:exon3:c.T438C:p.P146P,ENSG00000155252:ENST00000555577:exon3:c.T438C:p.P146P Score=741;Name=lod=1372 NA 10q24.2 Score=722;Name=V$NRSF_01 NA NA NA rs7915721 0.33 0.33 0.326 0.342452 0.2028 0.3006 0.2666 0.6233 0.2035 0.19 0.3 0.27 0.62 0.2629 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222784 NA NA 0.222209 0.550386 ID=COSM1127960,COSM1127962;OCCURENCE=1(prostate) 0.348 NA 6.9787576 954 19 10742170 10742170 A G exonic SLC44A2 NA nonsynonymous SNV SLC44A2:NM_001145056:exon7:c.A455G:p.Q152R,SLC44A2:NM_020428:exon7:c.A461G:p.Q154R exonic ENSG00000129353 NA nonsynonymous SNV ENSG00000129353:ENST00000588688:exon5:c.A302G:p.Q101R,ENSG00000129353:ENST00000590382:exon5:c.A296G:p.Q99R,ENSG00000129353:ENST00000335757:exon7:c.A461G:p.Q154R,ENSG00000129353:ENST00000407327:exon7:c.A455G:p.Q152R,ENSG00000129353:ENST00000586078:exon7:c.A461G:p.Q154R NA NA 19p13.2 NA NA NA NA rs2288904 0.79 0.79 0.784 0.817292 0.7644 0.7103 0.8516 0.9675 0.7546 0.77 0.65 0.81 0.95 0.8041 0.95 1 T 0.0 B 0.001 B 0.070 N 1.000 P -1.15 N 2.98 T -0.984 T 0.000 T 0.005 -0.551 1.506 4.87 1.320 0.874 9.472 -0.55085 NA 1 0.786628 0.933727 NA 0.79 NA 6.9782054 954 19 37441462 37441462 T C exonic ZNF568 NA synonymous SNV ZNF568:NM_001204837:exon5:c.T1215C:p.T405T,ZNF568:NM_001204836:exon6:c.T1215C:p.T405T,ZNF568:NM_001204835:exon7:c.T1404C:p.T468T,ZNF568:NM_198539:exon7:c.T1407C:p.T469T exonic ENSG00000198453 NA synonymous SNV ENSG00000198453:ENST00000415168:exon5:c.T1215C:p.T405T,ENSG00000198453:ENST00000587857:exon6:c.T1215C:p.T405T,ENSG00000198453:ENST00000333987:exon7:c.T1407C:p.T469T Score=492;Name=lod=133 NA 19q13.12 NA Name=KAP1 Name=5 NA rs546589 0.55 0.55 0.536 0.565895 0.5636 0.3105 0.5692 0.761 0.5654 0.57 0.32 0.58 0.75 0.5531 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123833 NA NA 0.571977 0.741943 NA 0.587 NA 6.9779896 954 7 142104144 142104144 T C intergenic LOC730441,MTRNR2L6 dist=132076;dist=269987 NA NA exonic ENSG00000211732 NA synonymous SNV ENSG00000211732:ENST00000390379:exon2:c.A321G:p.V107V Score=376;Name=lod=45 NA 7q34 Score=852;Name=V$TAL1BETAE47_01 NA Name=2 NA rs361434 0.25 0.25 0.246 0.309505 0.1541 0.1121 0.2277 0.6437 0.2791 0.13 0.11 0.27 0.6 0.2068 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766599 NA NA 0.161161 0.520235 NA 0.37 NA 6.977939 954 3 47045739 47045739 C G exonic NBEAL2 NA synonymous SNV NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P exonic ENSG00000160796 NA synonymous SNV ENSG00000160796:ENST00000441027:exon1:c.C78G:p.P26P,ENSG00000160796:ENST00000292309:exon35:c.C5502G:p.P1834P,ENSG00000160796:ENST00000383740:exon37:c.C891G:p.P297P,ENSG00000160796:ENST00000450053:exon37:c.C6054G:p.P2018P NA NA 3p21.31 NA NA NA NA rs1079276 0.5 0.5 0.443 0.472045 0.5865 0.5387 0.5245 0.2383 0.5644 0.59 0.53 0.54 0.29 0.5368 0.59 0.13 T . . . . 0.555 N 1.000 P . . 0.34 T -0.880 T 0.000 T . -1.43 0.021 3.54 1.242 0.120 12.200 -1.429707 NA NA 0.565865 0.279288 NA 0.522 NA 6.9775016 954 19 38956839 38956839 C T exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon24:c.C2979T:p.N993N,RYR1:NM_001042723:exon24:c.C2979T:p.N993N exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon24:c.C2979T:p.N993N,ENSG00000196218:ENST00000359596:exon24:c.C2979T:p.N993N,ENSG00000196218:ENST00000360985:exon24:c.C2979T:p.N993N Score=548;Name=lod=226 NA 19q13.2 NA NA NA NA rs2228070 0.24 0.24 0.188 0.24401 0.2237 0.4266 0.2176 0.084 0.3119 0.23 0.41 0.22 0.1 0.241 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.363559 1.363559 NA 0.224988 0.102634 NA 0.225 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079139.1|RCV000119604.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.9769786 954 1 45444038 45444038 G A exonic EIF2B3 NA synonymous SNV EIF2B3:NM_001166588:exon3:c.C243T:p.D81D,EIF2B3:NM_001261418:exon3:c.C243T:p.D81D,EIF2B3:NM_020365:exon3:c.C243T:p.D81D exonic ENSG00000070785 NA synonymous SNV ENSG00000070785:ENST00000360403:exon3:c.C243T:p.D81D,ENSG00000070785:ENST00000372182:exon3:c.C243T:p.D81D,ENSG00000070785:ENST00000372183:exon3:c.C243T:p.D81D NA NA 1p34.1 Score=843;Name=V$BRN2_01 NA NA NA rs11556200 0.28 0.28 0.289 0.296526 0.1998 0.2758 0.4265 0.4032 0.181 0.2 0.25 0.35 0.39 0.2588 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328558 NA NA 0.231395 0.386972 NA 0.319 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081999.3;CLNDSDB=.;CLNDSDBID=. 6.9766716 954 15 90768271 90768271 C T exonic SEMA4B NA synonymous SNV SEMA4B:NM_198925:exon10:c.C1266T:p.F422F,SEMA4B:NM_020210:exon11:c.C1266T:p.F422F exonic ENSG00000185033 NA synonymous SNV ENSG00000185033:ENST00000411539:exon10:c.C1266T:p.F422F,ENSG00000185033:ENST00000332496:exon11:c.C1266T:p.F422F,ENSG00000185033:ENST00000379122:exon11:c.C1251T:p.F417F Score=549;Name=lod=228 NA 15q26.1 Score=783;Name=V$PAX6_01 NA NA NA rs11547966 0.15 0.15 0.154 0.140974 0.2575 0.0556 0.1571 0.0787 0.182 0.28 0.04 0.16 0.08 0.1968 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.325112 1.325112 NA 0.235771 0.093721 NA 0.203 NA 6.9765956 954 1 22336305 22336305 C T exonic CELA3A NA synonymous SNV CELA3A:NM_005747:exon7:c.C750T:p.P250P exonic ENSG00000142789 NA synonymous SNV ENSG00000142789:ENST00000400271:exon2:c.C174T:p.P58P,ENSG00000142789:ENST00000290122:exon7:c.C750T:p.P250P Score=403;Name=lod=58 NA 1p36.12 Score=840;Name=V$GR_Q6 NA NA NA rs9187 0.3 0.3 0.23 0.286542 0.2207 0.4018 0.4107 0.2315 0.2219 0.24 0.37 0.38 0.25 0.2423 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841505 NA NA 0.227907 0.260554 NA 0.246 NA 6.9757596 954 9 71862987 71862987 G A exonic TJP2 NA synonymous SNV TJP2:NM_001170415:exon19:c.G2739A:p.A913A,TJP2:NM_001170416:exon19:c.G2820A:p.A940A,TJP2:NM_001170630:exon19:c.G2727A:p.A909A,TJP2:NM_004817:exon19:c.G2727A:p.A909A,TJP2:NM_201629:exon19:c.G2727A:p.A909A,TJP2:NM_001170414:exon20:c.G2658A:p.A886A exonic ENSG00000119139 NA synonymous SNV ENSG00000119139:ENST00000265384:exon19:c.G2727A:p.A909A,ENSG00000119139:ENST00000348208:exon19:c.G2727A:p.A909A,ENSG00000119139:ENST00000377245:exon19:c.G2727A:p.A909A,ENSG00000119139:ENST00000535702:exon19:c.G2739A:p.A913A,ENSG00000119139:ENST00000539225:exon19:c.G2820A:p.A940A,ENSG00000119139:ENST00000453658:exon20:c.G2658A:p.A886A Score=618;Name=lod=435 NA 9q21.11 NA NA NA NA rs2095876 0.29 0.29 0.226 0.284145 0.2197 0.4504 0.4539 0.1664 0.2178 0.22 0.44 0.43 0.13 0.2606 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.588402 1.588402 NA 0.210698 0.171357 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037082.1;CLNDSDB=.;CLNDSDBID=. 6.9756686 954 X 140993642 140993642 C T exonic MAGEC1 NA nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C452T:p.T151I exonic ENSG00000155495 NA nonsynonymous SNV ENSG00000155495:ENST00000285879:exon4:c.C452T:p.T151I NA NA Xq27.2 NA NA NA NA rs176037 0.33 0.33 NA NA NA NA NA NA NA 0.49 0.21 0.34 0.22 0.4053 0.49 0.44 T 0.898 P 0.127 B . . 1.000 P 0 N 4.19 T -1.031 T 0.000 T 0.064 -0.697 0.98 . -0.000 0.109 5.832 -0.697338 NA 1 0.452735 0.259974 NA 0.123 NA 6.9752984 954 10 90524237 90524237 T C exonic LIPN NA synonymous SNV LIPN:NM_001102469:exon3:c.T297C:p.A99A exonic ENSG00000204020 NA synonymous SNV ENSG00000204020:ENST00000404459:exon3:c.T297C:p.A99A Score=591;Name=lod=335 NA 10q23.31 NA NA Name=2 NA rs430517 0.26 0.26 0.274 0.270767 0.2207 0.3502 0.2954 0.2428 0.2607 0.21 0.35 0.24 0.23 0.2462 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.264516 1.264516 NA 0.224734 0.267264 NA 0.174 NA 6.9750326 955 2 152432311 152432311 T C exonic NEB NA synonymous SNV NEB:NM_004543:exon79:c.A11772G:p.P3924P,NEB:NM_001164507:exon107:c.A16911G:p.P5637P,NEB:NM_001164508:exon107:c.A16911G:p.P5637P,NEB:NM_001271208:exon107:c.A16911G:p.P5637P exonic ENSG00000183091 NA synonymous SNV ENSG00000183091:ENST00000413693:exon7:c.A1101G:p.P367P,ENSG00000183091:ENST00000172853:exon79:c.A11808G:p.P3936P,ENSG00000183091:ENST00000409198:exon80:c.A11808G:p.P3936P,ENSG00000183091:ENST00000603639:exon105:c.A16911G:p.P5637P,ENSG00000183091:ENST00000604864:exon105:c.A16911G:p.P5637P,ENSG00000183091:ENST00000397345:exon107:c.A16911G:p.P5637P,ENSG00000183091:ENST00000427231:exon107:c.A16911G:p.P5637P Score=612;Name=lod=408 NA 2q23.3 NA NA NA NA rs33988153 0.12 0.12 0.101 0.110224 0.2406 0.004 0.1282 0.0113 0.2065 0.25 0.01 0.17 0.01 0.1984 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255017 NA NA 0.253127 0.045831 NA 0.138 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081112.3;CLNDSDB=.;CLNDSDBID=. 6.9745396 955 11 20067064 20067064 C T exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon5:c.C1008T:p.D336D,NAV2:NM_001111018:exon14:c.C3558T:p.D1186D,NAV2:NM_145117:exon14:c.C3750T:p.D1250D,NAV2:NM_182964:exon14:c.C3750T:p.D1250D,NAV2:NM_001244963:exon15:c.C3819T:p.D1273D exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon4:c.C1008T:p.D336D,ENSG00000166833:ENST00000525322:exon4:c.C1008T:p.D336D,ENSG00000166833:ENST00000533917:exon5:c.C1008T:p.D336D,ENSG00000166833:ENST00000349880:exon14:c.C3750T:p.D1250D,ENSG00000166833:ENST00000360655:exon14:c.C3558T:p.D1186D,ENSG00000166833:ENST00000396085:exon14:c.C3750T:p.D1250D,ENSG00000166833:ENST00000396087:exon15:c.C3819T:p.D1273D,ENSG00000166833:ENST00000527559:exon16:c.C3606T:p.D1202D,ENSG00000166833:ENST00000540292:exon16:c.C3612T:p.D1204D Score=494;Name=lod=136 NA 11p15.1 NA Name=GATA-2 Name=2 NA rs7125647 0.68 0.68 0.658 0.66234 0.5378 0.8313 0.6628 0.5983 0.7025 0.56 0.87 0.67 0.63 0.6118 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732012 NA NA 0.543256 0.611893 NA 0.667 NA 6.9738106 955 15 48539587 48539587 T C exonic SLC12A1 NA synonymous SNV SLC12A1:NM_000338:exon13:c.T1614C:p.Y538Y,SLC12A1:NM_001184832:exon13:c.T1614C:p.Y538Y exonic ENSG00000074803 NA synonymous SNV ENSG00000074803:ENST00000558405:exon12:c.T1614C:p.Y538Y,ENSG00000074803:ENST00000559641:exon12:c.T1053C:p.Y351Y,ENSG00000074803:ENST00000380993:exon13:c.T1614C:p.Y538Y,ENSG00000074803:ENST00000396577:exon13:c.T1614C:p.Y538Y Score=647;Name=lod=567 NA 15q21.1 Score=862;Name=V$MZF1_02 NA NA NA rs6493311 0.46 0.46 0.487 0.495607 0.2097 0.5883 0.2968 0.8366 0.3742 0.2 0.63 0.27 0.82 0.2967 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.567618 1.567618 NA 0.188271 0.712693 NA 0.486 NA 6.9719956 955 6 26285560 26285560 A G exonic HIST1H4H NA synonymous SNV HIST1H4H:NM_003543:exon1:c.T168C:p.R56R exonic ENSG00000158406 NA synonymous SNV ENSG00000158406:ENST00000289352:exon1:c.T168C:p.R56R,ENSG00000158406:ENST00000377727:exon1:c.T168C:p.R56R Score=541;Name=lod=211 NA 6p22.2 NA Name=CHD2_(N-1250),GATA2_(CG2-96),USF-1,PAX5-C20,Oct-2,CCNT2,c-Myc,eGFP-GATA2,ZEB1_(SC-25388),HEY1,NFKB,BCLAF1_(M33-P5B11),BCL11A,HA-E2F1,Brg1,Sin3Ak-20,E2F6,Pol2-4H8,GATA-2,GATA3_(SC-268),HDAC2_(SC-6296),ZNF263,Mxi1_(bHLH),Pol2,Egr-1,Pol2(phosphoS2),Ini1,POU2F2,ZBTB33,HMGN3,ETS1,E2F6_(H-50),TAF1,Pol2(b),GATA-1,JunD,SIRT6 Name=148 NA rs2393592 0.62 0.62 0.582 0.61901 0.5547 0.8929 0.6412 0.3449 0.7577 0.56 0.91 0.64 0.37 0.6018 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401952 NA NA 0.538372 0.377213 NA 0.572 NA 6.9717946 955 9 123769200 123769200 C T exonic C5 NA nonsynonymous SNV C5:NM_001735:exon19:c.G2404A:p.V802I exonic ENSG00000106804 NA nonsynonymous SNV ENSG00000106804:ENST00000223642:exon19:c.G2404A:p.V802I Score=495;Name=lod=137 NA 9q33.2 NA NA NA NA rs17611 0.41 0.41 0.362 0.404752 0.4583 0.5685 0.5 0.0287 0.6217 0.47 0.58 0.5 0.04 0.4586 0.58 0.25 T 0.127 B 0.03 B 0.065 N 0.945 P 0.25 N 1.75 T -0.957 T 0.000 T 0.046 1.399 10.61 1.06 0.277 0.100 5.629 1.399024 1.399024 0.33 0.445233 0.089877 NA 0.362 NA 6.9712004 955 15 101718097 101718097 C G exonic CHSY1 NA synonymous SNV CHSY1:NM_014918:exon3:c.G1905C:p.V635V exonic ENSG00000131873 NA synonymous SNV ENSG00000131873:ENST00000254190:exon3:c.G1905C:p.V635V Score=378;Name=lod=46 NA 15q26.3 Score=841;Name=V$FREAC2_01 NA NA NA rs28364839 0.21 0.21 0.229 0.240815 0.2256 0.0347 0.1527 0.4644 0.229 0.22 0.04 0.19 0.42 0.2313 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66726 NA NA 0.238721 0.413981 NA 0.225 NA 6.9710456 955 1 11190646 11190646 G A exonic MTOR NA synonymous SNV MTOR:NM_004958:exon39:c.C5553T:p.S1851S exonic ENSG00000198793 NA synonymous SNV ENSG00000198793:ENST00000376838:exon1:c.C168T:p.S56S,ENSG00000198793:ENST00000361445:exon39:c.C5553T:p.S1851S Score=526;Name=lod=183 NA 1p36.22 Score=822;Name=V$IRF1_01 NA NA NA rs2275527 0.23 0.23 0.245 0.228634 0.2356 0.0794 0.1542 0.4486 0.1309 0.23 0.08 0.16 0.45 0.2215 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.501234 1.501234 NA 0.238605 0.437358 NA 0.232 NA 6.9709616 955 8 18729496 18729496 G A exonic PSD3 NA nonsynonymous SNV PSD3:NM_015310:exon3:c.C878T:p.P293L exonic ENSG00000156011 NA nonsynonymous SNV ENSG00000156011:ENST00000523619:exon2:c.C683T:p.P228L,ENSG00000156011:ENST00000327040:exon3:c.C878T:p.P293L,ENSG00000156011:ENST00000440756:exon3:c.C878T:p.P293L NA NA 8p22 NA NA NA NA rs13263453 0.21 0.21 0.226 0.210863 0.1143 0.3065 0.1326 0.239 0.229 0.12 0.32 0.13 0.27 0.1459 0.32 0.21 T 0.0 B 0.0 B 0.639 N 1.000 P 0.695 N 2.92 T -0.910 T 0.000 T 0.044 -0.132 3.355 1.96 0.075 0.642 3.943 -0.1318 NA 0.16 0.102746 0.212544 NA 0.152 NA 6.9703874 955 6 17633061 17633061 C T exonic NUP153 NA nonsynonymous SNV NUP153:NM_005124:exon17:c.G2479A:p.A827T exonic ENSG00000124789 NA nonsynonymous SNV ENSG00000124789:ENST00000262077:exon17:c.G2479A:p.A827T,ENSG00000124789:ENST00000537253:exon18:c.G2572A:p.A858T Score=393;Name=lod=53 Name=Obesity-related traits 6p22.3 NA NA NA NA rs2274136 0.82 0.82 0.82 0.814097 0.8002 0.879 0.804 0.7421 0.8661 0.8 0.91 0.8 0.77 0.7914 0.91 0.62 T 0.001 B 0.002 B 0.309 N 0.999 P 0.645 N 3.11 T -0.897 T 0.004 T 0.02 1.519 11.03 1.06 -0.246 0.372 8.254 1.518913 1.518913 0.53 0.771395 0.726736 NA 0.804 NA 6.9703384 955 20 23860178 23860178 A G exonic CST5 NA nonsynonymous SNV CST5:NM_001900:exon1:c.T136C:p.C46R exonic ENSG00000170367 NA nonsynonymous SNV ENSG00000170367:ENST00000304710:exon1:c.T136C:p.C46R NA NA 20p11.21 NA NA NA NA rs1799841 0.54 0.54 0.518 0.565096 0.4453 0.494 0.5476 0.8139 0.4376 0.44 0.47 0.53 0.79 0.483 0.79 0.87 T 0.0 B 0.0 B 0.702 N 1.000 P -2.38 N 1.84 T -0.970 T 0.000 T 0.027 -2.501 0.003 -0.399 -0.410 -1.217 0.831 -2.500876 NA 1 0.434884 0.749206 ID=COSM149153;OCCURENCE=1(stomach) 0.558 NA 6.9701494 955 19 731144 731144 A G exonic PALM NA nonsynonymous SNV PALM:NM_001040134:exon5:c.A319G:p.T107A,PALM:NM_002579:exon5:c.A319G:p.T107A exonic ENSG00000099864 NA nonsynonymous SNV ENSG00000099864:ENST00000264560:exon5:c.A319G:p.T107A,ENSG00000099864:ENST00000338448:exon5:c.A319G:p.T107A NA NA 19p13.3 NA NA NA NA rs1050457 0.52 0.52 0.511 0.546326 0.4394 0.5446 0.4942 0.7315 0.4448 0.43 0.53 0.51 0.66 0.4753 0.68 1 T 0.001 B 0.009 B 0.631 N 1.000 P -0.205 N 2.44 T -0.957 T 0.000 T 0.032 -1.069 0.174 -0.33 -0.100 -2.358 4.832 -1.06856 NA 0.78 0.449417 0.675534 NA 0.42 NA 6.9692164 955 11 62496519 62496519 T C exonic TTC9C NA synonymous SNV TTC9C:NM_173810:exon1:c.T199C:p.L67L exonic ENSG00000162222 NA synonymous SNV ENSG00000162222:ENST00000316461:exon1:c.T199C:p.L67L,ENSG00000162222:ENST00000294161:exon2:c.T199C:p.L67L,ENSG00000162222:ENST00000513247:exon2:c.T598C:p.L200L,ENSG00000162222:ENST00000530625:exon2:c.T199C:p.L67L,ENSG00000162222:ENST00000532583:exon2:c.T199C:p.L67L Score=534;Name=lod=197 NA 11q12.3 NA Name=ELF1_(SC-631) NA NA rs584845 0.29 0.29 0.301 0.292732 0.2127 0.2391 0.2061 0.4947 0.2188 0.22 0.23 0.24 0.49 0.2404 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.660545 1.660545 NA 0.244708 0.455722 NA 0.362 NA 6.9688586 955 19 50463670 50463670 T G exonic SIGLEC11 NA nonsynonymous SNV SIGLEC11:NM_001135163:exon3:c.A469C:p.K157Q,SIGLEC11:NM_052884:exon3:c.A469C:p.K157Q exonic ENSG00000161640 NA nonsynonymous SNV ENSG00000161640:ENST00000426971:exon3:c.A469C:p.K157Q,ENSG00000161640:ENST00000447370:exon3:c.A469C:p.K157Q NA NA 19q13.33 NA NA NA NA rs77553517 0.17 0.17 0.186 NA NA NA NA NA NA 0.13 0.2 0.13 0.21 0.1898 0.22 0.52 T 0.0 B 0.0 B 0.069 N 1.000 P -2.54 N 4.04 T -0.964 T 0.000 T 0.021 -1.425 0.021 -0.577 -0.459 -0.174 1.928 -1.424972 NA 1 0.174971 0.219321 NA 0.101 NA 6.9685624 955 1 19584004 19584004 G A exonic MRTO4 NA synonymous SNV MRTO4:NM_016183:exon5:c.G330A:p.E110E exonic ENSG00000053372 NA synonymous SNV ENSG00000053372:ENST00000330263:exon5:c.G330A:p.E110E Score=463;Name=lod=102 NA 1p36.13 NA NA Name=13 NA rs1042380 0.25 0.25 0.26 0.251398 0.2266 0.1012 0.183 0.4932 0.1534 0.24 0.1 0.2 0.47 0.2271 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890398 NA NA 0.244651 0.47458 NA 0.442 NA 6.9683156 955 1 152191709 152191709 C G exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.G2396C:p.S799T exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.G2396C:p.S799T NA NA 1q21.3 NA NA NA NA rs6662450 0.59 0.59 0.608 0.531749 0.829 0.3274 0.5519 0.4682 0.5082 0.82 0.36 0.63 0.47 0.7062 0.83 0.67 T 0.334 B 0.014 B . . 1.000 P 0.345 N 3.47 T -0.921 T 0.003 T 0.033 0.15 4.809 2.17 1.209 0.562 7.835 0.150427 NA 0 0.830233 0.523604 ID=COSM1180639;OCCURENCE=1(upper_aerodigestive_tract) 0.688 NA 6.9679004 955 22 23974200 23974200 A G exonic C22orf43 NA nonsynonymous SNV C22orf43:NM_016449:exon1:c.T11C:p.I4T exonic ENSG00000189269 NA nonsynonymous SNV ENSG00000189269:ENST00000317749:exon1:c.T11C:p.I4T NA NA 22q11.23 NA NA NA NA rs3827318 0.16 0.16 0.14 0.164137 0.1133 0.2371 0.1383 0.1785 0.1401 0.13 0.22 0.13 0.16 0.1392 0.22 0.74 T 0.89 P 0.702 P . . 1.000 P -0.145 N 1.55 T -1.079 T 0.000 T 0.128 -0.305 2.546 0.14 0.157 0.238 . -0.305118 NA 0.44 0.113278 0.172182 NA 0.188 NA 6.9675554 955 5 57750350 57750350 C G UTR3 PLK2 NM_001252226:c.*60G>C,NM_006622:c.*60G>C NA NA UTR3 ENSG00000145632 ENST00000274289:c.*60G>C NA NA Score=329;Name=lod=29 NA 5q11.2 Score=1000;Name=V$STAT3_02 NA Name=20 NA rs15009 0.44 0.44 0.433 0.446086 0.3668 0.5982 0.4683 0.3283 0.5143 0.36 0.64 0.42 0.32 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.695513 1.695513 NA NA NA NA 0.464 NA 6.9665334 955 9 18504916 18504916 T A exonic ADAMTSL1 NA synonymous SNV ADAMTSL1:NM_001040272:exon2:c.T153A:p.G51G,ADAMTSL1:NM_052866:exon2:c.T153A:p.G51G exonic ENSG00000178031 NA synonymous SNV ENSG00000178031:ENST00000276935:exon2:c.T153A:p.G51G,ENSG00000178031:ENST00000327883:exon2:c.T153A:p.G51G,ENSG00000178031:ENST00000380548:exon2:c.T153A:p.G51G,ENSG00000178031:ENST00000380566:exon2:c.T153A:p.G51G,ENSG00000178031:ENST00000380570:exon2:c.T153A:p.G51G,ENSG00000178031:ENST00000431052:exon2:c.T153A:p.G51G Score=467;Name=lod=105 NA 9p22.1 NA Name=SP1 Name=3 NA rs2277160 0.57 0.57 0.564 0.570887 0.5755 0.4444 0.5418 0.6725 0.5798 0.59 0.44 0.58 0.67 0.5617 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.72149 1.72149 NA 0.563256 0.652746 NA 0.529 NA 6.9662106 955 6 17831531 17831531 C T intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA Score=278;Name=lod=18 NA 6p22.3 NA Name=c-Fos,GATA-2,c-Jun,CTCF Name=95 NA rs77510670 0.02 0.02 0.019 0.00958466 0.0338 NA 0.013 NA 0.0051 0.04 NA 0.02 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74042 NA NA NA NA NA 0.022 NA 6.9662 955 15 89195264 89195264 A G intronic ISG20 NA NA NA intronic ENSG00000172183 NA NA NA NA NA 15q26.1 NA NA NA NA rs7180509 0.1 0.1 0.104 0.111222 0.0338 0.0397 0.0418 0.2837 0.0808 0.03 0.04 0.04 0.33 NA 0.33 0.01 D . . . . . . 1.000 P . . . . -0.985 T 0.000 T . 1.182 9.808 -2.91 -0.678 -0.425 1.008 1.182252 NA NA NA NA NA 0.13 NA 6.9662 955 18 61390361 61390361 T C exonic SERPINB11 NA unknown UNKNOWN exonic ENSG00000206072 NA nonsynonymous SNV ENSG00000206072:ENST00000538847:exon3:c.T301C:p.S101P,ENSG00000206072:ENST00000536691:exon7:c.T382C:p.S128P NA NA 18q21.33 NA NA NA NA rs1395267 0.78 0.78 0.775 0.754792 0.7406 0.8819 0.732 0.7163 0.7065 0.76 0.88 0.75 0.73 0.7356 0.88 0.13 T 0.958 D 0.563 P 0.002 N 1.000 P . . 2.67 T -0.989 T 0.000 T 0.153 0.744 7.946 2.28 0.794 0.642 7.360 0.743792 NA NA 0.724558 0.727713 NA 0.855 NA 6.9659087 955 12 52652210 52652210 T A intergenic KRT7,KRT81 dist=9501;dist=27487 NA NA ncRNA_exonic ENSG00000135477 NA NA NA Score=363;Name=lod=40 NA 12q13.13 NA Name=CTCF Name=53 NA rs117031005 0.02 0.02 0.024 0.0115815 0.0348 0.001 0.0245 0.0023 0.002 0.04 NA 0.03 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.784098 2.784098 0.45 NA NA NA 0.014 NA 6.9652 956 2 85625222 85625222 T G exonic CAPG NA synonymous SNV CAPG:NM_001256139:exon8:c.A813C:p.P271P,CAPG:NM_001256140:exon8:c.A768C:p.P256P,CAPG:NM_001747:exon8:c.A813C:p.P271P exonic ENSG00000042493 NA synonymous SNV ENSG00000042493:ENST00000453973:exon2:c.A78C:p.P26P,ENSG00000042493:ENST00000263867:exon8:c.A813C:p.P271P,ENSG00000042493:ENST00000409670:exon8:c.A813C:p.P271P,ENSG00000042493:ENST00000409724:exon8:c.A813C:p.P271P,ENSG00000042493:ENST00000409921:exon8:c.A768C:p.P256P Score=383;Name=lod=48 NA 2p11.2 NA Name=GATA-2,GATA3_(SC-268),ZNF263 NA NA rs6885 0.24 0.24 0.239 0.251597 0.2336 0.121 0.147 0.4175 0.2546 0.24 0.13 0.15 0.44 0.2239 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.799447 NA NA 0.244419 0.373128 NA 0.297 NA 6.9647476 956 21 46320313 46320313 C T exonic ITGB2 NA synonymous SNV ITGB2:NM_000211:exon7:c.G819A:p.G273G,ITGB2:NM_001127491:exon7:c.G819A:p.G273G exonic ENSG00000160255 NA synonymous SNV ENSG00000160255:ENST00000320216:exon6:c.G792A:p.G264G,ENSG00000160255:ENST00000397852:exon6:c.G819A:p.G273G,ENSG00000160255:ENST00000397854:exon6:c.G648A:p.G216G,ENSG00000160255:ENST00000302347:exon7:c.G819A:p.G273G,ENSG00000160255:ENST00000355153:exon7:c.G819A:p.G273G,ENSG00000160255:ENST00000397857:exon7:c.G819A:p.G273G,ENSG00000160255:ENST00000397850:exon8:c.G819A:p.G273G Score=409;Name=lod=61 NA 21q22.3 NA NA NA NA rs2230528 0.19 0.19 0.145 0.223043 0.2177 0.1607 0.2709 0.1815 0.3149 0.21 0.13 0.29 0.15 0.2428 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03344 NA NA 0.241512 0.166818 NA 0.217 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=not;CLNACC=RCV000087125.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 6.9646546 956 1 9416151 9416151 G A exonic SPSB1 NA synonymous SNV SPSB1:NM_025106:exon2:c.G201A:p.V67V exonic ENSG00000171621 NA synonymous SNV ENSG00000171621:ENST00000377399:exon1:c.G201A:p.V67V,ENSG00000171621:ENST00000328089:exon2:c.G201A:p.V67V,ENSG00000171621:ENST00000357898:exon2:c.G201A:p.V67V,ENSG00000171621:ENST00000450402:exon2:c.G201A:p.V67V Score=472;Name=lod=111 NA 1p36.22 Score=774;Name=V$PAX2_01 NA NA NA rs9435243 0.26 0.26 0.218 0.259385 0.1998 0.2748 0.3401 0.2368 0.2781 0.2 0.29 0.32 0.26 0.2723 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092005 NA NA 0.232326 0.239673 NA 0.174 NA 6.9622406 956 19 2939401 2939401 C G exonic ZNF77 NA nonsynonymous SNV ZNF77:NM_021217:exon2:c.G8C:p.C3S exonic ENSG00000175691 NA nonsynonymous SNV ENSG00000175691:ENST00000314531:exon2:c.G8C:p.C3S NA NA 19p13.3 NA NA NA NA rs12610412 0.19 0.19 0.159 0.176118 0.1153 0.372 0.2493 0.1021 0.0849 0.11 0.4 0.19 0.08 0.1358 0.4 1 T 0.0 B 0.0 B . . 1.000 P -2.41 N 5.83 T -0.975 T 0.000 T 0.01 -3.313 0.001 1.42 0.388 -0.422 3.276 -3.313343 NA 1 0.120814 0.108715 NA 0.246 NA 6.9614194 956 5 150400254 150400254 G C exonic GPX3 NA unknown UNKNOWN exonic ENSG00000211445 NA unknown UNKNOWN Score=425;Name=lod=71 NA 5q33.1 NA Name=Pol2,Pol2-4H8,TAF1,TBP,HEY1 NA NA rs8177413 0.03 0.03 0.034 0.0465256 0.007 0.0228 0.0245 0.0726 0.092 0.01 0.03 0.03 0.06 0.0249 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.367606 1.367606 NA 0.006719 0.054536 NA 0.022 NA 6.961381 956 19 2939396 2939396 T C exonic ZNF77 NA nonsynonymous SNV ZNF77:NM_021217:exon2:c.A13G:p.I5V exonic ENSG00000175691 NA nonsynonymous SNV ENSG00000175691:ENST00000314531:exon2:c.A13G:p.I5V NA NA 19p13.3 NA NA NA NA rs12609268 0.19 0.19 0.159 0.176118 0.1153 0.372 0.2493 0.1021 0.0849 0.11 0.4 0.19 0.08 0.1359 0.4 0.26 T 0.0 B 0.0 B . . 1.000 P -1.66 N 4.72 T -1.006 T 0.000 T 0.044 -2.37 0.004 1.42 0.389 0.257 4.274 -2.370024 NA 1 0.120814 0.108942 NA 0.246 NA 6.9613194 956 1 9307033 9307033 G A exonic H6PD NA synonymous SNV H6PD:NM_004285:exon3:c.G636A:p.A212A exonic ENSG00000049239 NA synonymous SNV ENSG00000049239:ENST00000377403:exon3:c.G636A:p.A212A,ENSG00000049239:ENST00000602477:exon3:c.G669A:p.A223A Score=525;Name=lod=182 NA 1p36.22 Score=802;Name=V$HEN1_01 NA NA NA rs7524046 0.25 0.25 0.232 0.222644 0.2445 0.4038 0.2622 0.1074 0.1411 0.24 0.43 0.21 0.11 0.2235 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471782 NA NA 0.238837 0.15842 NA 0.217 NA 6.9598296 956 12 88380094 88380094 T C exonic C12orf50 NA nonsynonymous SNV C12orf50:NM_152589:exon10:c.A917G:p.Q306R exonic ENSG00000165805 NA nonsynonymous SNV ENSG00000165805:ENST00000550553:exon9:c.A800G:p.Q267R,ENSG00000165805:ENST00000298699:exon10:c.A917G:p.Q306R NA NA 12q21.32 NA NA NA NA rs10777084 0.24 0.24 0.269 0.303115 0.0994 0.0565 0.1383 0.8147 0.1922 0.09 0.04 0.13 0.78 0.1577 0.78 0.8 T 0.0 B 0.001 B 0.126 N 1.000 P -0.77 N 1.65 T -1.014 T 0.000 T 0.035 -3.085 0.001 -0.245 -0.326 -0.089 6.581 -3.085134 NA 1 0.117004 0.690422 NA 0.312 NA 6.9592294 956 3 195477786 195477786 C T exonic MUC4 NA nonsynonymous SNV MUC4:NM_138297:exon21:c.G2984A:p.G995E,MUC4:NM_004532:exon22:c.G3137A:p.G1046E,MUC4:NM_018406:exon23:c.G15845A:p.G5282E exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000349607:exon21:c.G2984A:p.G995E,ENSG00000145113:ENST00000346145:exon22:c.G3137A:p.G1046E,ENSG00000145113:ENST00000475231:exon22:c.G15689A:p.G5230E,ENSG00000145113:ENST00000463781:exon23:c.G15845A:p.G5282E NA NA 3q29 NA NA NA NA rs6808605 0.07 0.07 0.077 0.0603035 0.1451 0.001 0.0764 0.0348 0.0573 0.13 NA 0.09 0.05 0.096 0.13 0.45 T 0.306 B 0.072 B 0.015 N 1.000 P 0 N 1.64 T -1.008 T 0.000 T 0.154 1.941 12.45 1.33 0.208 0.160 7.681 1.940731 1.940731 0.03 0.133023 0.039265 NA 0.13 NA 6.9592104 956 1 152192631 152192631 C T exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1474A:p.G492R exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.G1474A:p.G492R NA NA 1q21.3 NA NA NA NA rs6587647 0.61 0.61 0.606 0.559904 0.83 0.38 0.5576 0.5287 0.5112 0.82 0.37 0.63 0.53 0.7142 0.83 0.25 T 0.105 B 0.007 B . . 1.000 P 0.805 L 3.37 T -0.916 T 0.004 T 0.061 0.511 6.771 -3.36 -0.512 -3.733 8.767 0.511211 NA 0.06 0.831047 0.588743 NA 0.565 NA 6.9580864 956 19 33467576 33467576 G A exonic C19orf40 NA synonymous SNV C19orf40:NM_152266:exon5:c.G636A:p.T212T exonic ENSG00000131944 NA synonymous SNV ENSG00000131944:ENST00000590179:exon3:c.G351A:p.T117T,ENSG00000131944:ENST00000589646:exon4:c.G351A:p.T117T,ENSG00000131944:ENST00000588258:exon5:c.G636A:p.T212T,ENSG00000131944:ENST00000590281:exon5:c.G636A:p.T212T Score=391;Name=lod=52 NA 19q13.11 NA NA Name=2 NA rs7258185 0.24 0.24 0.214 0.26877 0.2157 0.1647 0.4366 0.3094 0.2566 0.22 0.13 0.36 0.3 0.2636 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663447 NA NA 0.230116 0.30345 NA 0.268 NA 6.9572506 956 11 406483 406483 T C exonic SIGIRR NA nonsynonymous SNV SIGIRR:NM_001135053:exon9:c.A935G:p.Q312R,SIGIRR:NM_001135054:exon9:c.A935G:p.Q312R,SIGIRR:NM_021805:exon9:c.A935G:p.Q312R exonic ENSG00000185187 NA nonsynonymous SNV ENSG00000185187:ENST00000531205:exon8:c.A935G:p.Q312R,ENSG00000185187:ENST00000332725:exon9:c.A935G:p.Q312R,ENSG00000185187:ENST00000382520:exon9:c.A935G:p.Q312R,ENSG00000185187:ENST00000397632:exon9:c.A935G:p.Q312R,ENSG00000185187:ENST00000431843:exon9:c.A935G:p.Q312R NA NA 11p15.5 NA NA NA NA rs3210908 0.9 0.9 0.864 0.927117 0.7793 0.998 0.8977 0.9834 0.9509 0.78 1 0.88 0.98 0.8362 1 0.88 T 0.0 B 0.001 B 0.351 N 1.000 P 0.805 L 4.14 T -1.029 T 0.000 T 0.152 -1.499 0.017 -2.77 -1.273 -0.395 7.634 -1.498761 NA 0.49 0.761816 0.946997 NA 0.877 NA 6.9560174 956 17 10304261 10304261 G A exonic MYH8 NA synonymous SNV MYH8:NM_002472:exon26:c.C3270T:p.I1090I exonic ENSG00000133020 NA synonymous SNV ENSG00000133020:ENST00000403437:exon26:c.C3270T:p.I1090I Score=645;Name=lod=557 NA 17p13.1 Score=806;Name=V$IRF7_01 NA NA NA rs3744552 0.49 0.49 0.488 0.473642 0.6272 0.124 0.4841 0.7292 0.3231 0.62 0.12 0.49 0.73 0.5025 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168423 NA NA 0.581047 0.694961 NA 0.442 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117688.1;CLNDSDB=.;CLNDSDBID=. 6.9559196 957 2 207824384 207824384 T G exonic CPO NA nonsynonymous SNV CPO:NM_173077:exon5:c.T402G:p.S134R exonic ENSG00000144410 NA nonsynonymous SNV ENSG00000144410:ENST00000272852:exon5:c.T402G:p.S134R Score=243;Name=lod=13 NA 2q33.3 NA NA NA NA rs11903403 0.43 0.43 0.456 0.434105 0.4592 0.4058 0.2752 0.5454 0.3998 0.45 0.39 0.31 0.51 0.4412 0.52 0.6 T 0.0 B 0.0 B 0.000 N 1.000 P -0.325 N 2.93 T -0.963 T 0.000 T 0.054 -0.77 0.758 1.12 0.051 0.471 2.624 -0.77036 NA 0.57 0.478488 0.523377 NA 0.522 NA 6.9544454 957 1 201981218 201981218 C G exonic ELF3 NA synonymous SNV ELF3:NM_001114309:exon3:c.C297G:p.G99G,ELF3:NM_004433:exon3:c.C297G:p.G99G exonic ENSG00000163435 NA synonymous SNV ENSG00000163435:ENST00000359651:exon2:c.C297G:p.G99G,ENSG00000163435:ENST00000367283:exon3:c.C297G:p.G99G,ENSG00000163435:ENST00000367284:exon3:c.C297G:p.G99G,ENSG00000163435:ENST00000446188:exon3:c.C291G:p.G97G Score=472;Name=lod=110 NA 1q32.1 NA NA Name=6 NA rs11543979 0.33 0.33 0.351 0.338259 0.2396 0.3363 0.2363 0.5424 0.2382 0.23 0.37 0.2 0.54 0.255 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12234 NA NA 0.218488 0.445983 ID=COSM146735;OCCURENCE=1(stomach) 0.391 NA 6.9535786 957 17 10296486 10296486 G A exonic MYH8 NA synonymous SNV MYH8:NM_002472:exon36:c.C5208T:p.D1736D exonic ENSG00000133020 NA synonymous SNV ENSG00000133020:ENST00000403437:exon36:c.C5208T:p.D1736D Score=602;Name=lod=373 NA 17p13.1 NA NA NA NA rs33969260 0.14 0.14 0.127 0.0954473 0.2942 0.002 0.1383 0.0212 0.0573 0.3 NA 0.16 0.03 0.1761 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527692 NA NA 0.24407 0.054244 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117693.1;CLNDSDB=.;CLNDSDBID=. 6.9522966 957 19 46974233 46974233 G A exonic PNMAL1 NA synonymous SNV PNMAL1:NM_001103149:exon2:c.C60T:p.D20D,PNMAL1:NM_018215:exon2:c.C60T:p.D20D exonic ENSG00000182013 NA synonymous SNV ENSG00000182013:ENST00000313683:exon2:c.C60T:p.D20D,ENSG00000182013:ENST00000438932:exon2:c.C60T:p.D20D,ENSG00000182013:ENST00000602246:exon2:c.C60T:p.D20D Score=419;Name=lod=67 NA 19q13.32 NA Name=ZNF263 NA NA rs3826851 0.22 0.22 0.202 0.214257 0.2475 0.1806 0.1988 0.2534 0.1728 0.25 0.15 0.25 0.25 0.2254 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.594737 1.594737 NA 0.241512 0.287562 NA 0.261 NA 6.9522546 957 14 100795338 100795338 G C exonic SLC25A47 NA synonymous SNV SLC25A47:NM_207117:exon5:c.G603C:p.A201A exonic ENSG00000140107 NA synonymous SNV ENSG00000140107:ENST00000361529:exon5:c.G603C:p.A201A,ENSG00000140107:ENST00000557052:exon5:c.G165C:p.A55A NA NA 14q32.2 NA Name=ERalpha_a Name=4 NA rs8015259 0.28 0.28 0.311 0.28774 0.2266 0.246 0.1585 0.497 0.2025 0.22 0.24 0.16 0.5 0.244 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.037186 NA NA 0.244121 0.435396 ID=COSM432667;OCCURENCE=1(breast) 0.37 NA 6.9519456 957 1 20992819 20992819 G C exonic KIF17 NA nonsynonymous SNV KIF17:NM_001122819:exon14:c.C2796G:p.D932E,KIF17:NM_020816:exon14:c.C2799G:p.D933E exonic ENSG00000117245 NA nonsynonymous SNV ENSG00000117245:ENST00000247986:exon14:c.C2799G:p.D933E,ENSG00000117245:ENST00000375044:exon14:c.C2499G:p.D833E,ENSG00000117245:ENST00000400463:exon14:c.C2796G:p.D932E Score=519;Name=lod=172 NA 1p36.12 NA NA NA NA rs631357 0.73 0.73 0.735 0.704473 0.8241 0.5536 0.7464 0.7572 0.636 0.82 0.56 0.78 0.74 0.7523 0.82 1 T 0.0 B 0.0 B . . 1.000 P -1.135 N 0.04 T -0.942 T 0.000 T 0.1 -1.433 0.02 3.66 0.168 0.872 5.559 -1.433156 NA 1 0.805349 0.760781 NA 0.783 NA 6.9515844 957 3 195453243 195453243 C T exonic MUC20 NA nonsynonymous SNV MUC20:NM_001098516:exon2:c.C1151T:p.P384L,MUC20:NM_152673:exon3:c.C1256T:p.P419L exonic ENSG00000176945 NA nonsynonymous SNV ENSG00000176945:ENST00000445522:exon1:c.C1664T:p.P555L,ENSG00000176945:ENST00000436408:exon2:c.C1769T:p.P590L,ENSG00000176945:ENST00000447234:exon2:c.C1769T:p.P590L,ENSG00000176945:ENST00000320736:exon3:c.C1256T:p.P419L NA NA 3q29 NA NA NA NA rs3828408 0.31 0.31 0.266 NA NA NA NA NA NA 0.29 0.45 0.33 0.17 0.3837 0.45 0.26 T 0.093 B 0.016 B 0.993 N 1.000 P 0 N 3.36 T -0.922 T 0.000 T 0.183 1.78 11.91 -1.57 -0.224 0.258 9.428 1.779655 1.779655 0.14 NA NA NA 0.087 NA 6.9496334 957 2 202598113 202598113 C T exonic ALS2 NA synonymous SNV ALS2:NM_020919:exon13:c.G2466A:p.V822V exonic ENSG00000003393 NA synonymous SNV ENSG00000003393:ENST00000457679:exon4:c.G402A:p.V134V,ENSG00000003393:ENST00000264276:exon13:c.G2466A:p.V822V Score=564;Name=lod=262 NA 2q33.1 NA Name=STAT3 Name=5 NA rs2276615 0.43 0.43 0.375 0.372404 0.5875 0.3502 0.6542 0.1006 0.3415 0.58 0.38 0.64 0.1 0.5272 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024464 NA NA 0.603334 0.163355 ID=COSM149044;OCCURENCE=1(breast),1(stomach) 0.428 NA 6.9486326 957 2 133019934 133019934 G C intergenic ANKRD30BL,GPR39 dist=4392;dist=154213 NA NA ncRNA_exonic ENSG00000233786 NA NA NA Score=762;Name=lod=1662 NA 2q21.2 NA NA Name=134 NA NA NA NA 0.066 0.0896565 0.0517 0.119 0.0331 0.0961 0.1299 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772828 NA NA NA NA NA NA NA 6.9483 957 10 91352966 91352966 G A exonic PANK1 NA synonymous SNV PANK1:NM_138316:exon4:c.C747T:p.C249C,PANK1:NM_148977:exon5:c.C1599T:p.C533C,PANK1:NM_148978:exon5:c.C924T:p.C308C exonic ENSG00000152782 NA synonymous SNV ENSG00000152782:ENST00000322191:exon4:c.C747T:p.C249C,ENSG00000152782:ENST00000307534:exon5:c.C1599T:p.C533C,ENSG00000152782:ENST00000342512:exon5:c.C924T:p.C308C,ENSG00000152782:ENST00000371774:exon6:c.C1005T:p.C335C Score=653;Name=lod=603 NA 10q23.31 Score=755;Name=V$STAT3_01 Name=STAT3,Pbx3,BCL3 NA NA rs2296616 0.7 0.7 0.711 0.702476 0.5567 0.9435 0.6326 0.7095 0.6442 0.55 0.94 0.59 0.75 0.6181 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547456 NA NA 0.545 0.692238 NA 0.645 NA 6.9468666 957 1 94476388 94476388 C G exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon40:c.G5682C:p.L1894L exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000535881:exon3:c.G39C:p.L13L,ENSG00000198691:ENST00000536513:exon5:c.G492C:p.L164L,ENSG00000198691:ENST00000370225:exon40:c.G5682C:p.L1894L Score=514;Name=lod=164 NA 1p22.1 NA NA NA NA rs1801574 0.22 0.22 0.196 0.200679 0.2495 0.12 0.2075 0.2738 0.1299 0.24 0.16 0.22 0.26 0.2197 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67773 NA NA 0.251744 0.244439 ID=COSM146563;OCCURENCE=1(stomach) 0.254 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085750.2;CLNDSDB=.;CLNDSDBID=. 6.9457226 957 22 19751829 19751829 C T exonic TBX1 NA synonymous SNV TBX1:NM_005992:exon5:c.C664T:p.L222L,TBX1:NM_080646:exon5:c.C664T:p.L222L,TBX1:NM_080647:exon5:c.C664T:p.L222L exonic ENSG00000184058 NA synonymous SNV ENSG00000184058:ENST00000329705:exon5:c.C664T:p.L222L,ENSG00000184058:ENST00000332710:exon5:c.C664T:p.L222L,ENSG00000184058:ENST00000359500:exon5:c.C664T:p.L222L Score=592;Name=lod=341 NA 22q11.21 NA Name=SUZ12 NA NA rs2301558 0.29 0.29 0.297 0.341254 0.2087 0.1171 0.3127 0.6203 0.3517 0.21 0.12 0.29 0.6 0.2806 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.579489 1.579489 NA 0.232326 0.561989 NA 0.355 NA 6.9450406 958 6 40998141 40998141 G A exonic UNC5CL NA synonymous SNV UNC5CL:NM_173561:exon8:c.C1320T:p.C440C exonic ENSG00000124602 NA synonymous SNV ENSG00000124602:ENST00000373164:exon7:c.C1320T:p.C440C,ENSG00000124602:ENST00000244565:exon8:c.C1320T:p.C440C Score=457;Name=lod=96 NA 6p21.1 Score=806;Name=V$PPARG_03 NA NA NA rs736795 0.22 0.22 0.221 0.276558 0.2038 0.2778 0.268 0.2368 0.41 0.21 0.26 0.25 0.19 0.2752 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477905 NA NA 0.243953 0.234453 NA 0.181 NA 6.9437136 958 19 18377647 18377647 G C exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.C703G:p.L235V,KIAA1683:NM_001145305:exon3:c.C565G:p.L189V,KIAA1683:NM_025249:exon3:c.C703G:p.L235V exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.C703G:p.L235V,ENSG00000130518:ENST00000600328:exon3:c.C703G:p.L235V,ENSG00000130518:ENST00000600359:exon3:c.C565G:p.L189V NA NA 19p13.11 NA NA NA NA rs8103906 0.54 0.54 0.54 0.561302 0.4533 0.5516 0.6052 0.73 0.4233 0.45 0.51 0.54 0.71 0.4939 0.71 1 T 0.0 B 0.0 B 0.892 N 1.000 P -0.46 N 4.1 T -0.983 T 0.000 T 0.02 -2.365 0.004 -0.595 -0.279 -1.126 2.334 -2.36533 NA 0.96 0.442791 0.70404 NA 0.449 NA 6.9433424 958 3 149182753 149182753 C G intergenic TM4SF1,TM4SF4 dist=87185;dist=9615 NA NA ncRNA_exonic ENSG00000239408 NA NA NA Score=313;Name=lod=25 NA 3q25.1 NA Name=PU.1 Name=4 NA rs58221944 0.05 0.05 0.049 0.0499201 0.0567 0.0685 0.0591 0.0121 0.0685 0.07 0.08 0.04 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354925 NA NA NA NA NA 0.094 NA 6.9433 958 18 832355 832355 T C intergenic YES1,ADCYAP1 dist=20028;dist=72589 NA NA ncRNA_exonic ENSG00000266575 NA NA NA Score=469;Name=lod=107 NA 18p11.32 NA Name=c-Myc,ERRA,USF-1,Pol2(b),HNF4A_(H-171),CTCF_(SC-5916),Sin3Ak-20,HDAC2_(SC-6296),Rad21,ELF1_(SC-631),HNF4G_(SC-6558),CTCF,p300,BHLHE40,RXRA,E2F6_(H-50),TCF4,SMC3_(ab9263),TR4 Name=53 NA rs9952316 0.18 0.18 0.167 0.189297 0.0567 0.381 0.0432 0.2572 0.1401 0.06 0.36 0.06 0.23 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.945621 NA NA NA NA NA 0.152 NA 6.9433 958 14 22133997 22133997 A G exonic OR4E2 NA nonsynonymous SNV OR4E2:NM_001001912:exon1:c.A701G:p.Q234R exonic ENSG00000221977 NA nonsynonymous SNV ENSG00000221977:ENST00000408935:exon1:c.A701G:p.Q234R NA NA 14q11.2 NA NA NA NA rs970382 0.74 0.74 0.774 0.721446 0.8151 0.498 0.7046 0.9493 0.5593 0.82 0.49 0.7 0.94 0.7578 0.94 1 T 0.0 B 0.001 B 0.066 N 1.000 P -0.505 N 8.8 T -0.946 T 0.000 T 0.004 -2.736 0 3.78 0.422 -1.734 5.307 -2.736271 NA 1 0.817197 0.916837 NA 0.797 NA 6.9432364 958 19 12222861 12222861 T C ncRNA_exonic ZNF788 NA NA NA exonic ENSG00000188474 NA nonsynonymous SNV ENSG00000188474:ENST00000339302:exon3:c.T499C:p.C167R NA NA 19p13.2 NA NA NA NA rs1975349 0.37 0.37 0.405 0.389976 0.2217 0.3363 0.2133 0.767 0.2342 0.23 0.37 0.21 0.72 0.3364 0.72 0 D 0.0 B 0.0 B . . . . . . 2.52 T -1.042 T 0.000 T 0.077 1.062 9.338 0.808 -0.073 0.771 6.396 1.062272 NA 0.05 NA NA ID=COSM438590;OCCURENCE=1(breast) 0.471 NA 6.9419 958 4 5743512 5743512 T C exonic EVC NA nonsynonymous SNV EVC:NM_153717:exon6:c.T772C:p.Y258H exonic ENSG00000072840 NA nonsynonymous SNV ENSG00000072840:ENST00000264956:exon6:c.T772C:p.Y258H,ENSG00000072840:ENST00000382674:exon6:c.T772C:p.Y258H,ENSG00000072840:ENST00000509451:exon6:c.T772C:p.Y258H NA NA 4p16.2 NA NA NA NA rs6414624 0.77 0.77 0.746 0.744808 0.7932 0.9048 0.7839 0.5015 0.8313 0.8 0.91 0.81 0.53 0.7951 0.91 0.44 T 0.009 B 0.016 B 0.403 N 1.000 P 1.735 L 0.64 T -1.006 T 0.000 T 0.116 0.309 5.677 2.72 0.309 1.926 8.084 0.30946 NA 0.38 0.803492 0.518619 NA 0.79 NA 6.9415414 958 19 46269076 46269076 G A exonic SIX5 NA nonsynonymous SNV SIX5:NM_175875:exon3:c.C1903T:p.P635S exonic ENSG00000177045 NA nonsynonymous SNV ENSG00000177045:ENST00000317578:exon3:c.C1903T:p.P635S NA NA 19q13.32 NA NA NA NA rs2014576 0.51 0.51 0.505 0.500998 0.4523 0.6111 0.621 0.3192 0.5982 0.46 0.67 0.58 0.35 0.5066 0.67 0.23 T 0.004 B 0.002 B 0.633 N 1.000 P 0.345 N -2.44 D -0.954 T 0.000 T 0.053 1.919 12.37 -0.76 0.388 -0.164 1.898 1.919029 1.919029 0 0.432897 0.345064 NA 0.428 NA 6.9415364 958 1 111957693 111957693 A G exonic OVGP1 NA nonsynonymous SNV OVGP1:NM_002557:exon11:c.T1430C:p.M477T exonic ENSG00000085465 NA nonsynonymous SNV ENSG00000085465:ENST00000369732:exon11:c.T1430C:p.M477T NA NA 1p13.2 NA Name=RXRA NA NA rs2485319 0.58 0.58 0.606 0.631789 0.4364 0.7718 0.3573 0.7572 0.7137 0.43 0.77 0.38 0.73 0.5137 0.77 0.72 T 0.0 B 0.0 B 0.004 N 1.000 P -0.345 N 3.74 T -0.939 T 0.002 T 0.004 -1.282 0.042 -1.06 -0.608 -0.339 4.432 -1.281576 NA 0.81 0.441744 0.707671 NA 0.572 NA 6.9414894 958 22 36681163 36681163 G C intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 Score=948;Name=V$HOXA3_01 NA Name=3 NA rs56327920 0.01 0.01 0.006 0.00678914 0.0209 NA 0.0159 0.0015 NA 0.03 NA 0.02 0.0041 0.0167 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75662 NA NA 0.021977 0.002497 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037568.1;CLNDSDB=.;CLNDSDBID=. 6.940423 958 12 56815922 56815922 C T exonic TIMELESS NA nonsynonymous SNV TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q exonic ENSG00000111602 NA nonsynonymous SNV ENSG00000111602:ENST00000229201:exon20:c.G2489A:p.R830Q,ENSG00000111602:ENST00000553532:exon20:c.G2492A:p.R831Q Score=459;Name=lod=98 NA 12q13.3 NA NA NA NA rs774047 0.48 0.48 0.425 0.498802 0.4503 0.7371 0.6772 0.2262 0.545 0.45 0.7 0.6 0.21 0.4898 0.7 0.67 T 0.005 B 0.004 B 0.054 N 0.000 P -0.31 N 2.7 T -1.026 T 0.000 T 0.059 1.83 12.08 -1.07 -0.079 -0.241 9.495 1.829831 1.829831 0.75 0.452907 0.244666 NA 0.493 NA 6.9403264 958 3 121354583 121354583 G A exonic HCLS1 NA synonymous SNV HCLS1:NM_005335:exon9:c.C690T:p.A230A exonic ENSG00000180353 NA synonymous SNV ENSG00000180353:ENST00000428394:exon8:c.C579T:p.A193A,ENSG00000180353:ENST00000314583:exon9:c.C690T:p.A230A Score=551;Name=lod=231 NA 3q13.33 Score=809;Name=V$CDPCR3_01 NA NA NA rs3772126 0.26 0.26 0.242 0.218251 0.2505 0.4802 0.1571 0.0507 0.1851 0.25 0.46 0.19 0.06 0.2303 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.899388 1.899388 NA 0.245581 0.074671 NA 0.13 NA 6.9402856 958 11 101347093 101347093 A G exonic TRPC6 NA synonymous SNV TRPC6:NM_004621:exon6:c.T1683C:p.N561N exonic ENSG00000137672 NA synonymous SNV ENSG00000137672:ENST00000348423:exon4:c.T1335C:p.N445N,ENSG00000137672:ENST00000360497:exon5:c.T1518C:p.N506N,ENSG00000137672:ENST00000344327:exon6:c.T1683C:p.N561N Score=612;Name=lod=411 NA 11q22.1 Score=830;Name=V$OCT_C NA NA NA rs12366144 0.27 0.27 0.292 0.298922 0.2495 0.0724 0.2046 0.5832 0.2658 0.27 0.07 0.22 0.53 0.2398 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929264 NA NA 0.23773 0.521788 NA 0.326 NA 6.9396366 958 4 120214030 120214030 T G exonic USP53 NA nonsynonymous SNV USP53:NM_019050:exon18:c.T2886G:p.S962R exonic ENSG00000145390 NA nonsynonymous SNV ENSG00000145390:ENST00000450251:exon15:c.T2886G:p.S962R,ENSG00000145390:ENST00000274030:exon19:c.T2886G:p.S962R NA NA 4q26 NA NA NA NA rs3749591 0.28 0.28 0.264 0.244808 0.3032 0.3859 0.2824 0.1195 0.182 0.3 0.4 0.24 0.11 0.276 0.4 0.06 T 0.501 P 0.08 B 0.767 N 1.000 P 1.845 L 0.83 T -0.981 T 0.000 T 0.071 1.98 12.58 -1.66 -0.151 -0.174 6.327 1.979529 1.979529 0.01 0.314528 0.138977 ID=COSM149731;OCCURENCE=1(stomach) 0.275 NA 6.9396054 958 11 1642884 1642884 A C exonic KRTAP5-4 NA nonsynonymous SNV KRTAP5-4:NM_001012709:exon1:c.T440G:p.F147C exonic ENSG00000241598 NA nonsynonymous SNV ENSG00000241598:ENST00000399682:exon1:c.T440G:p.F147C NA NA 11p15.5 NA NA NA NA rs6578597 0.66 0.66 0.655 0.673922 0.7087 0.5139 0.6138 0.7806 0.7014 0.7 0.53 0.66 0.75 0.6855 0.75 0.08 T . . . . . . 1.000 P -3.08 N 5.8 T -0.920 T 0.000 T 0.266 -0.174 3.154 -1.98 -1.749 -0.265 0.836 -0.173521 NA 0.08 NA NA ID=COSM1127832;OCCURENCE=1(prostate) 0.087 NA 6.9391334 958 17 56621286 56621286 G T exonic C17orf47 NA nonsynonymous SNV C17orf47:NM_001038704:exon1:c.C262A:p.P88T exonic ENSG00000181013 NA nonsynonymous SNV ENSG00000181013:ENST00000321691:exon1:c.C262A:p.P88T NA NA 17q22 Score=827;Name=V$OLF1_01 NA NA NA rs8071623 0.88 0.88 0.868 0.896366 0.7704 1 0.8718 0.9123 0.9151 0.79 1 0.84 0.9 0.841 1 1 T 0.0 B 0.0 B 0.704 N 1.000 P -0.345 N 1.79 T -0.989 T 0.000 T 0.093 -1.061 0.182 2.03 0.169 0.059 4.672 -1.060934 NA 1 0.784651 0.90059 NA 0.761 NA 6.9372824 958 5 137682714 137682714 T G UTR3 FAM53C NM_001135647:c.*66T>G,NM_016605:c.*66T>G NA NA UTR3 ENSG00000120709 ENST00000239906:c.*66T>G,ENST00000513056:c.*329T>G NA NA Score=708;Name=lod=1009 NA 5q31.2 Score=771;Name=V$ROAZ_01 NA Name=4 NA rs2269953 0.44 0.44 0.443 0.446086 0.3966 0.5843 0.3415 0.4599 0.41 0.4 0.56 0.31 0.45 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.227108 4.227108 NA NA NA NA 0.493 NA 6.9367334 958 14 38061951 38061951 G A intronic FOXA1 NA NA NA intronic ENSG00000129514 NA NA NA NA NA 14q21.1 Score=942;Name=V$SP1_01 Name=CTCF Name=14 NA rs35502972 0.01 0.01 0.009 0.00738818 0.0249 NA 0.0101 NA 0.0051 0.03 NA 0.01 NA 0.0172 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.156368 NA NA 0.021207 0.002959 NA NA NA 6.936693 958 6 29894523 29894523 G A intergenic HCG4B,HLA-A dist=1095;dist=15724 NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA Score=415;Name=lod=65 NA 6p22.1 NA Name=AP-2gamma Name=99 NA rs62390374 0.1 0.1 0.059 0.120607 0.0636 0.3204 0.0476 0.003 0.184 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.958648 2.958648 NA NA NA NA 0.058 NA 6.9364 958 19 56090076 56090076 G T exonic ZNF579 NA synonymous SNV ZNF579:NM_152600:exon2:c.C930A:p.A310A exonic ENSG00000218891 NA synonymous SNV ENSG00000218891:ENST00000325421:exon2:c.C930A:p.A310A Score=539;Name=lod=206 NA 19q13.42 NA Name=Pol2 NA NA rs34164618 0.2 0.2 0.218 0.235823 0.2445 0.0754 0.268 0.2315 0.3753 0.25 0.07 0.24 0.24 0.253 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.703044 1.703044 NA 0.234102 0.230892 NA 0.094 NA 6.9350646 959 3 133167363 133167363 G A exonic BFSP2 NA synonymous SNV BFSP2:NM_003571:exon3:c.G603A:p.A201A exonic ENSG00000170819 NA synonymous SNV ENSG00000170819:ENST00000302334:exon3:c.G603A:p.A201A Score=619;Name=lod=439 NA 3q22.1 NA Name=POU2F2,MEF2A,YY1_(C-20),MEF2C_(SC-13268),YY1,Oct-2,NFKB,CHD2_(N-1250),BATF Name=16 NA rs2276737 0.45 0.45 0.464 0.436502 0.5746 0.5853 0.3833 0.0968 0.638 0.59 0.58 0.42 0.1 0.5441 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143778 NA NA 0.614186 0.170903 NA 0.399 NA 6.9337806 959 21 46313442 46313442 G T exonic ITGB2 NA synonymous SNV ITGB2:NM_000211:exon10:c.C1101A:p.V367V,ITGB2:NM_001127491:exon10:c.C1101A:p.V367V exonic ENSG00000160255 NA synonymous SNV ENSG00000160255:ENST00000397852:exon9:c.C1101A:p.V367V,ENSG00000160255:ENST00000397854:exon9:c.C930A:p.V310V,ENSG00000160255:ENST00000302347:exon10:c.C1101A:p.V367V,ENSG00000160255:ENST00000355153:exon10:c.C1101A:p.V367V,ENSG00000160255:ENST00000397857:exon10:c.C1101A:p.V367V,ENSG00000160255:ENST00000397850:exon11:c.C1101A:p.V367V Score=477;Name=lod=116 NA 21q22.3 NA NA NA NA rs2230529 0.19 0.19 0.188 0.199081 0.2505 0.0893 0.1542 0.2292 0.2505 0.25 0.09 0.18 0.23 0.2307 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.270638 1.270638 NA 0.252326 0.218566 NA 0.109 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=not;CLNACC=RCV000087108.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 6.9331406 959 22 33199362 33199362 G A intronic SYN3,TIMP3 NA NA NA intronic ENSG00000100234,ENSG00000185666 NA NA NA Score=289;Name=lod=20 NA 22q12.3 NA Name=ZNF263 Name=81 NA rs62232903 0.05 0.05 0.053 0.0483227 0.0686 0.0347 0.049 0.0318 0.0634 0.07 0.03 0.05 0.03 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725455 NA NA NA NA NA 0.036 NA 6.9314 959 2 70520875 70520875 C T upstream SNRPG NA NA NA UTR5 ENSG00000143977 ENST00000272348:c.-94G>A NA NA NA NA 2p13.3 Score=962;Name=V$CREBP1CJUN_01 Name=TCF12,GTF2B,GTF2F1_(RAP-74),CEBPB,IRF1,CHD2_(N-1250),TBP,ELF1_(SC-631),NFKB,HEY1,Max,c-Myc,SIX5,Oct-2,YY1,Pol2(phosphoS2),Pol2,RFX5_(N-494),ZNF263,KAP1,Pol2-4H8,GATA-2,eGFP-JunD,BRCA1_(C-1863),Sin3Ak-20,HA-E2F1,JunD,FOSL2,Pol2(b),GATA-1,TAF1,GABP,ZBTB33,E2F4,ELK4,POU2F2 Name=148 NA rs4567961 0.12 0.12 0.118 0.126398 0.0696 0.1637 0.0937 0.2216 0.0409 0.07 0.16 0.06 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337538 NA NA NA NA NA 0.123 NA 6.9304 959 2 160808075 160808075 C T exonic PLA2R1 NA nonsynonymous SNV PLA2R1:NM_001007267:exon24:c.G3316A:p.G1106S,PLA2R1:NM_001195641:exon24:c.G3316A:p.G1106S,PLA2R1:NM_007366:exon24:c.G3316A:p.G1106S exonic ENSG00000153246 NA nonsynonymous SNV ENSG00000153246:ENST00000283243:exon24:c.G3316A:p.G1106S,ENSG00000153246:ENST00000392771:exon24:c.G3316A:p.G1106S NA NA 2q24.2 NA NA NA NA rs3828323 0.31 0.31 0.298 0.249401 0.5169 0.2917 0.2824 0.0401 0.1902 0.51 0.29 0.3 0.05 0.397 0.51 0.82 T 0.0 B 0.001 B 0.151 N 1.000 P -0.345 N 3.39 T -0.935 T 0.000 T 0.058 -1.337 0.031 -3.0 -0.402 -0.698 4.591 -1.336677 NA 0.88 0.490233 0.106219 NA 0.319 NA 6.9292004 959 6 32917544 32917544 C T exonic HLA-DMA NA nonsynonymous SNV HLA-DMA:NM_006120:exon3:c.G496A:p.V166I exonic ENSG00000204257 NA nonsynonymous SNV ENSG00000204257:ENST00000395305:exon2:c.G211A:p.V71I,ENSG00000204257:ENST00000374843:exon3:c.G496A:p.V166I,ENSG00000204257:ENST00000395303:exon3:c.G394A:p.V132I,ENSG00000204257:ENST00000422832:exon3:c.G397A:p.V133I,ENSG00000204257:ENST00000456800:exon3:c.G586A:p.V196I NA NA 6p21.32 NA NA NA NA rs1063478 0.15 0.15 0.132 0.173722 0.1292 0.2391 0.1974 0.0915 0.2464 0.12 0.23 0.15 0.1 0.1466 0.23 0.24 T 0.0 B 0.0 B 0.202 N 1.000 P 0.375 N 4.08 T -0.916 T 0.003 T 0.124 -0.355 2.325 1.54 0.095 -0.119 4.046 -0.354828 NA 0.27 0.128461 0.093647 NA 0.08 NA 6.9290724 959 18 57022754 57022754 T C exonic LMAN1 NA synonymous SNV LMAN1:NM_005570:exon2:c.A351G:p.R117R exonic ENSG00000074695 NA synonymous SNV ENSG00000074695:ENST00000251047:exon2:c.A351G:p.R117R Score=693;Name=lod=870 NA 18q21.32 Score=699;Name=V$BRACH_01 NA NA NA rs1127220 0.18 0.18 0.16 0.172724 0.2525 0.0308 0.2666 0.1762 0.1656 0.26 0.02 0.27 0.16 0.2216 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.240741 1.240741 NA 0.263953 0.201997 NA 0.152 NA 6.9286136 959 7 100395003 100395003 G C exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000546213:exon44:c.G3398C:p.G1133A,ENSG00000146839:ENST00000546292:exon44:c.G8006C:p.G2669A NA NA 7q22.1 NA NA NA NA rs314344 0.41 0.41 0.394 0.382388 0.6262 0.0635 0.389 0.4221 0.4018 0.62 0.06 0.41 0.48 0.5066 0.62 1 T 0.0 B 0.0 B 0.131 N 1.000 P . . 2.62 T -0.928 T 0.000 T 0.135 -0.201 3.024 3.05 0.334 1.133 5.844 -0.201139 NA NA 0.605452 0.470153 ID=COSM150341;OCCURENCE=1(stomach) 0.58 NA 6.9284147 959 17 6511781 6511781 A G exonic KIAA0753 NA synonymous SNV KIAA0753:NM_014804:exon10:c.T1716C:p.A572A exonic ENSG00000198920 NA synonymous SNV ENSG00000198920:ENST00000589033:exon3:c.T84C:p.A28A,ENSG00000198920:ENST00000542606:exon8:c.T819C:p.A273A,ENSG00000198920:ENST00000572370:exon9:c.T819C:p.A273A,ENSG00000198920:ENST00000361413:exon10:c.T1716C:p.A572A Score=272;Name=lod=17 NA 17p13.1 NA Name=JunD,c-Jun Name=36 NA rs4796519 0.64 0.64 0.633 0.663339 0.5467 0.7103 0.6729 0.7307 0.637 0.53 0.68 0.66 0.74 0.6178 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712356 NA NA 0.574347 0.709969 NA 0.754 NA 6.9278196 959 6 46657057 46657057 A G exonic TDRD6 NA nonsynonymous SNV TDRD6:NM_001010870:exon1:c.A1192G:p.T398A,TDRD6:NM_001168359:exon1:c.A1192G:p.T398A exonic ENSG00000180113 NA nonsynonymous SNV ENSG00000180113:ENST00000316081:exon1:c.A1192G:p.T398A,ENSG00000180113:ENST00000544460:exon1:c.A1192G:p.T398A NA NA 6p12.3 NA NA NA NA rs3799277 0.86 0.86 0.859 0.888179 0.7624 0.9097 0.8631 0.9796 0.8896 0.76 0.9 0.86 0.98 0.8335 0.98 0.79 T 0.0 B 0.0 B 0.660 N 1.000 P -1.7 N 2.58 T -0.907 T 0.003 T 0.017 -2.894 0.001 3.79 0.480 1.285 8.355 -2.894098 NA 1 0.809651 0.955288 NA 0.949 NA 6.9277824 959 19 10670992 10670992 C T exonic KRI1 NA nonsynonymous SNV KRI1:NM_023008:exon9:c.G814A:p.E272K exonic ENSG00000129347 NA nonsynonymous SNV ENSG00000129347:ENST00000361821:exon8:c.G802A:p.E268K,ENSG00000129347:ENST00000312962:exon9:c.G814A:p.E272K Score=387;Name=lod=50 NA 19p13.2 NA NA NA NA rs3745249 0.33 0.33 0.312 0.321086 0.5 0.2411 0.304 0.18 0.4223 0.49 0.23 0.36 0.2 0.4368 0.49 0.36 T 0.003 B 0.005 B 0.065 N 1.000 P 0.975 L 3.17 T -0.937 T 0.000 T 0.159 1.135 9.627 1.37 0.585 -0.055 9.371 1.135433 NA 0.11 0.469535 0.210849 NA 0.457 NA 6.9269984 959 10 76861680 76861680 T C exonic DUSP13 NA nonsynonymous SNV DUSP13:NM_001007273:exon3:c.A223G:p.S75G exonic ENSG00000079393 NA nonsynonymous SNV ENSG00000079393:ENST00000607131:exon3:c.A223G:p.S75G,ENSG00000079393:ENST00000607487:exon4:c.A478G:p.S160G,ENSG00000079393:ENST00000491677:exon5:c.A331G:p.S111G NA NA 10q22.2 NA NA Name=2 NA rs6480771 0.68 0.68 0.636 0.670128 0.4483 0.8998 0.6902 0.7829 0.4949 0.45 0.91 0.63 0.8 0.5287 0.91 0.41 T 0.0 B 0.0 B 0.458 N 1.000 P -0.805 N 3.85 T -1.075 T 0.000 T 0.028 -0.892 0.455 -0.487 -0.309 -0.407 4.494 -0.891783 NA 1 0.429419 0.732864 NA 0.681 NA 6.9269144 959 9 79318921 79318921 A G exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon9:c.T7608C:p.C2536C exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon9:c.T7608C:p.C2536C,ENSG00000106772:ENST00000428286:exon9:c.T6531C:p.C2177C NA NA 9q21.2 NA NA NA NA rs620985 0.45 0.45 0.405 0.429113 0.5865 0.3522 0.634 0.1936 0.5194 0.57 0.37 0.63 0.21 0.5509 0.63 . . . . . . . . 1.000 P . . . . -0.973 T 0.000 T . -1.026 0.224 -6.06 -0.623 -1.646 9.840 -1.025963 NA NA 0.603294 0.270727 NA 0.464 NA 6.9259726 959 1 35835740 35835740 A G intronic ZMYM4 NA NA NA intronic ENSG00000146463 NA NA NA NA NA 1p34.3 Score=817;Name=V$POU3F2_01 Name=PU.1 Name=104 NA rs12027359 0.08 0.08 0.081 0.11262 0.0209 0.0923 0.0216 0.2549 0.1002 0.02 0.06 0.02 0.24 0.0427 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.802588 1.802588 NA 0.010465 0.201997 NA 0.058 NA 6.925935 960 1 228407260 228407260 G A exonic OBSCN NA synonymous SNV OBSCN:NM_001271223:exon9:c.G2889A:p.E963E exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000570156:exon9:c.G2889A:p.E963E Score=397;Name=lod=55 NA 1q42.13 Score=904;Name=V$E47_02 NA NA NA rs1771484 0.29 0.29 0.268 0.277157 0.3588 0.1746 0.3487 0.3147 0.1973 0.36 0.17 0.37 0.28 0.3831 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12802 NA NA NA NA NA 0.333 NA 6.9247666 960 9 138440527 138440527 T C intronic OBP2A NA NA NA exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000342114:exon4:c.T293C:p.L98S,ENSG00000122136:ENST00000340780:exon5:c.T427C:p.W143R NA NA 9q34.3 NA NA NA NA rs2590501 0.44 0.44 0.337 0.486621 0.4274 0.6974 0.5778 0.2579 0.5746 0.38 0.66 0.5 0.25 0.4608 0.66 0.15 T 0.0 B 0.0 B . . 1.000 P . . 1.41 T -0.952 T 0.000 T 0.214 -2.752 0 -2.55 -0.799 -2.631 0.522 -2.751831 NA 0.93 0.355 0.20926 NA NA NA 6.9234667 960 3 58416535 58416535 C T exonic PDHB NA synonymous SNV PDHB:NM_000925:exon6:c.G438A:p.G146G exonic ENSG00000168291 NA synonymous SNV ENSG00000168291:ENST00000383714:exon5:c.G384A:p.G128G,ENSG00000168291:ENST00000474765:exon5:c.G384A:p.G128G,ENSG00000168291:ENST00000302746:exon6:c.G438A:p.G146G,ENSG00000168291:ENST00000469364:exon6:c.G438A:p.G146G NA NA 3p14.3 Score=754;Name=V$ROAZ_01 NA NA NA rs1126551 0.22 0.22 0.03 0.204673 0.3757 0.001 0.2839 0.2133 0.1708 0.34 NA 0.3 0.24 0.2832 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926862 NA NA 0.085116 0.028824 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117898.2;CLNDSDB=.;CLNDSDBID=. 6.9226506 960 3 41960006 41960006 T C exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon7:c.A670G:p.I224V exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon7:c.A670G:p.I224V,ENSG00000168038:ENST00000420927:exon7:c.A670G:p.I224V NA NA 3p22.1 NA NA NA NA rs1716975 0.69 0.69 0.667 0.679912 0.8042 0.8522 0.7997 0.2821 0.8272 0.8 0.84 0.79 0.28 0.7847 0.84 0.66 T 0.0 B 0.002 B 0.419 N 1.000 P 0.69 N -0.1 T -1.004 T 0.000 T 0.027 -0.583 1.381 -5.89 -1.466 0.078 4.223 -0.583388 NA 0.87 0.821928 0.344077 NA 0.645 NA 6.9225054 960 9 138440525 138440525 C G intronic OBP2A NA NA NA exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000340780:exon5:c.C425G:p.P142R,ENSG00000122136:ENST00000471886:exon5:c.C409G:p.L137V NA NA 9q34.3 NA NA NA NA rs2590500 0.44 0.44 0.328 0.486621 0.4274 0.6974 0.5778 0.2579 0.5746 0.38 0.66 0.5 0.24 0.4608 0.66 0.52 T 0.994 D 0.937 D . . 1.000 P . . 1.63 T -0.959 T 0.000 T 0.15 2.064 12.86 0.816 0.295 0.186 5.420 2.063603 2.063603 1 0.357641 0.211303 NA NA NA 6.9208257 960 12 72425010 72425010 T A intronic TPH2 NA NA NA intronic ENSG00000139287 NA NA NA Score=284;Name=lod=19 NA 12q21.1 NA Name=eGFP-JunD,E2F6_(H-50),STAT1,TAL1_(SC-12984),GATA2_(CG2-96) Name=4 NA rs17110741 0.01 0.01 0.007 0.00838658 0.0249 NA 0.0202 0.0008 0.002 0.02 NA 0.02 NA 0.023 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254339 NA NA 0.031279 0.004085 NA 0.007 NA 6.920821 960 8 87540872 87540872 G A exonic CPNE3 NA synonymous SNV CPNE3:NM_003909:exon3:c.G99A:p.L33L exonic ENSG00000085719 NA synonymous SNV ENSG00000085719:ENST00000198765:exon2:c.G99A:p.L33L,ENSG00000085719:ENST00000523072:exon2:c.G99A:p.L33L,ENSG00000085719:ENST00000517771:exon3:c.G99A:p.L33L,ENSG00000085719:ENST00000521271:exon3:c.G99A:p.L33L,ENSG00000085719:ENST00000522240:exon3:c.G99A:p.L33L,ENSG00000085719:ENST00000523001:exon4:c.G99A:p.L33L,ENSG00000085719:ENST00000523469:exon4:c.G99A:p.L33L Score=484;Name=lod=124 NA 8q21.3 Score=953;Name=V$FOXO1_01 NA NA NA rs10956871 0.18 0.18 0.169 0.164736 0.2555 0.0496 0.1383 0.2103 0.1472 0.27 0.06 0.18 0.2 0.2203 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56155 NA NA 0.27093 0.242397 NA 0.159 NA 6.9199366 960 1 179416878 179416878 C T intronic AXDND1 NA NA NA ncRNA_exonic ENSG00000224620,ENSG00000236539 NA NA NA Score=645;Name=lod=557 NA 1q25.2 NA Name=SMC3_(ab9263),CTCF_(SC-5916),CTCFL_(SC-98982),CTCF,Rad21,CTCF_(C-20) Name=32 NA rs7521291 0.34 0.34 0.318 0.329273 0.4135 0.372 0.3357 0.1543 0.4305 0.4 0.41 0.37 0.15 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10829 NA NA NA NA NA 0.37 NA 6.9198333 960 4 108641317 108641317 G A exonic PAPSS1 NA synonymous SNV PAPSS1:NM_005443:exon1:c.C19T:p.L7L exonic ENSG00000138801 NA synonymous SNV ENSG00000138801:ENST00000265174:exon1:c.C19T:p.L7L Score=403;Name=lod=58 NA 4q25 NA Name=ZEB1_(SC-25388),HEY1,CEBPB,TBP,TAF1,Pol2-4H8,Pol2 Name=3 NA rs1127006 0.47 0.47 0.499 0.464257 0.6044 0.3988 0.4971 0.2315 0.6789 0.61 0.43 0.5 0.31 0.5413 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.909908 1.909908 NA 0.601977 0.285974 NA 0.29 NA 6.9189896 960 17 4351560 4351560 G A exonic SPNS3 NA synonymous SNV SPNS3:NM_182538:exon6:c.G732A:p.R244R exonic ENSG00000182557 NA nonsynonymous SNV ENSG00000182557:ENST00000575194:exon5:c.G595A:p.E199K Score=501;Name=lod=145 NA 17p13.2 Score=898;Name=V$MYOD_01 NA NA NA rs12450838 0.24 0.24 0.193 0.2498 0.3469 0.1151 0.4669 0.0794 0.365 0.35 0.1 0.44 0.09 0.3636 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699804 NA NA 0.37093 0.116432 NA 0.261 NA 6.91857 960 1 157668390 157668390 T C exonic FCRL3 NA nonsynonymous SNV FCRL3:NM_052939:exon4:c.A82G:p.N28D exonic ENSG00000160856 NA nonsynonymous SNV ENSG00000160856:ENST00000368184:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000368186:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000477837:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000485028:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000492769:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000496769:exon4:c.A82G:p.N28D NA NA 1q23.1 NA NA NA NA rs7522061 0.51 0.51 0.504 0.470647 0.5 0.4345 0.4539 0.6203 0.2873 0.49 0.42 0.51 0.66 0.4503 0.66 0.66 T 0.0 B 0.002 B 0.268 N 1.000 P 0.515 N 2.73 T -0.983 T 0.004 T 0.013 -0.197 3.044 -10.7 -2.887 -0.482 10.548 -0.196801 NA 0.36 0.464535 0.628007 NA 0.493 NA 6.9184984 960 5 168098235 168098235 A G exonic SLIT3 NA synonymous SNV SLIT3:NM_001271946:exon34:c.T4116C:p.D1372D,SLIT3:NM_003062:exon34:c.T4095C:p.D1365D exonic ENSG00000184347 NA synonymous SNV ENSG00000184347:ENST00000332966:exon34:c.T4116C:p.D1372D,ENSG00000184347:ENST00000404867:exon34:c.T4095C:p.D1365D,ENSG00000184347:ENST00000519560:exon34:c.T4095C:p.D1365D Score=437;Name=lod=80 NA 5q34 NA NA Name=7 NA rs2277933 0.35 0.35 0.301 0.323083 0.2435 0.3274 0.3934 0.4705 0.1513 0.24 0.37 0.36 0.47 0.2716 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604364 NA NA 0.233582 0.441792 NA 0.312 NA 6.9179846 960 11 6631016 6631016 C T exonic ILK NA synonymous SNV ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A exonic ENSG00000166333 NA synonymous SNV ENSG00000166333:ENST00000528995:exon8:c.C735T:p.A245A,ENSG00000166333:ENST00000396751:exon9:c.C918T:p.A306A,ENSG00000166333:ENST00000537806:exon9:c.C516T:p.A172A,ENSG00000166333:ENST00000299421:exon10:c.C918T:p.A306A,ENSG00000166333:ENST00000420936:exon10:c.C918T:p.A306A Score=610;Name=lod=403 NA 11p15.4 NA Name=Pol2-4H8 NA NA rs2292195 0.19 0.19 0.162 0.160144 0.2575 0.0833 0.2219 0.1256 0.1421 0.26 0.1 0.23 0.14 0.2269 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158062 NA NA 0.264665 0.154475 NA 0.188 NA 6.9176016 960 12 4737715 4737715 C T exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.G353A:p.G118E exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000540967:exon3:c.G353A:p.G118E,ENSG00000111254:ENST00000228850:exon4:c.G353A:p.G118E,ENSG00000111254:ENST00000545990:exon5:c.G353A:p.G118E NA NA 12p13.32 NA NA Name=4 NA rs2072355 0.73 0.73 0.692 0.705471 0.832 0.6538 0.8256 0.587 0.7035 0.84 0.63 0.81 0.61 0.775 0.84 1 T 0.0 B 0.001 B 0.400 N 1.000 P 1.265 L 3.42 T -0.932 T 0.000 T 0.33 -1.134 0.115 -3.33 -0.654 -0.299 6.038 -1.133777 NA 1 0.808837 0.599637 NA 0.783 NA 6.9174964 960 9 139391636 139391636 G A exonic NOTCH1 NA synonymous SNV NOTCH1:NM_017617:exon34:c.C6555T:p.D2185D exonic ENSG00000148400 NA synonymous SNV ENSG00000148400:ENST00000277541:exon34:c.C6555T:p.D2185D Score=513;Name=lod=162 NA 9q34.3 Score=774;Name=V$PPARG_03 Name=NRSF NA NA rs2229974 0.7 0.7 0.67 0.695088 0.5775 0.9494 0.6542 0.6278 0.6738 0.58 0.93 0.66 0.64 0.6187 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335149 NA NA 0.553266 0.636051 NA 0.601 NA 6.9172006 960 16 20370810 20370810 C T exonic PDILT NA nonsynonymous SNV PDILT:NM_174924:exon12:c.G1586A:p.G529E exonic ENSG00000169340 NA nonsynonymous SNV ENSG00000169340:ENST00000302451:exon12:c.G1586A:p.G529E NA NA 16p12.3 NA NA NA NA rs9652588 0.35 0.35 0.347 0.352835 0.4732 0.1538 0.3473 0.4017 0.3722 0.48 0.15 0.35 0.38 0.4424 0.5 1 T 0.0 B 0.0 B 0.211 N 1.000 P -0.895 N 4.15 T -0.970 T 0.000 T 0.028 -1.493 0.017 2.75 0.297 0.562 3.463 -1.492764 NA 1 0.501163 0.408988 NA 0.377 NA 6.9165704 960 2 219249013 219249013 C T exonic SLC11A1 NA synonymous SNV SLC11A1:NM_000578:exon3:c.C198T:p.F66F exonic ENSG00000018280 NA synonymous SNV ENSG00000018280:ENST00000233202:exon3:c.C198T:p.F66F,ENSG00000018280:ENST00000354352:exon3:c.C198T:p.F66F Score=577;Name=lod=295 NA 2q35 Score=759;Name=V$STAT5A_02 NA NA NA rs2276631 0.19 0.19 0.18 0.167931 0.2505 0.0982 0.2695 0.1452 0.1135 0.23 0.11 0.25 0.16 0.2312 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.359999 1.359999 NA 0.268953 0.172038 NA 0.167 NA 6.9160136 960 12 132688137 132688137 A G exonic GALNT9 NA synonymous SNV GALNT9:NM_021808:exon3:c.T78C:p.Y26Y,GALNT9:NM_001122636:exon7:c.T1176C:p.Y392Y exonic ENSG00000182870 NA synonymous SNV ENSG00000182870:ENST00000541995:exon2:c.T78C:p.Y26Y,ENSG00000182870:ENST00000542942:exon2:c.T78C:p.Y26Y,ENSG00000182870:ENST00000397325:exon3:c.T78C:p.Y26Y,ENSG00000182870:ENST00000538356:exon3:c.T78C:p.Y26Y,ENSG00000182870:ENST00000535228:exon4:c.T429C:p.Y143Y,ENSG00000182870:ENST00000328957:exon7:c.T1176C:p.Y392Y Score=520;Name=lod=173 NA 12q24.33 NA NA NA NA rs7486927 0.56 0.56 0.566 0.569289 0.5716 0.4911 0.5231 0.6664 0.5491 0.58 0.48 0.52 0.66 0.5748 0.66 . . . . . . . . 0.000 P . . . . -0.964 T 0.000 T . 0.241 5.299 -2.38 -0.687 -0.220 10.210 0.240554 NA NA 0.605245 0.653075 NA 0.507 NA 6.9150216 961 12 11183832 11183832 G A exonic TAS2R31 NA nonsynonymous SNV TAS2R31:NM_176885:exon1:c.C103T:p.R35W exonic ENSG00000256436 NA nonsynonymous SNV ENSG00000256436:ENST00000390675:exon1:c.C103T:p.R35W NA NA 12p13.2 NA NA NA NA rs10845295 0.4 0.4 0.354 0.335463 0.4801 0.1944 0.4568 0.3434 0.2352 0.51 0.26 0.43 0.35 0.4576 0.51 1 T 0.001 B 0.0 B . . 1.000 P -3.445 N 6.26 T -0.983 T 0.000 T 0.088 -1.952 0.007 1.23 -0.166 1.722 4.695 -1.952494 NA NA 0.481636 0.353721 NA 0.406 NA 6.9139974 961 11 5410934 5410934 T G exonic OR51M1 NA nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T306G:p.H102Q exonic ENSG00000184698 NA nonsynonymous SNV ENSG00000184698:ENST00000328611:exon1:c.T306G:p.H102Q NA NA 11p15.4 NA NA NA NA rs1498467 0.69 0.69 0.688 0.698083 0.8241 0.5476 0.7277 0.6815 0.7249 0.81 0.54 0.74 0.64 0.7685 0.83 0.16 T . . . . 0.604 U 1.000 P . . 1.25 T -1.026 T 0.000 T 0.031 -0.136 3.335 -4.44 -0.728 -3.276 2.974 -0.135838 NA 0.11 0.826762 0.736368 NA 0.688 NA 6.9139714 961 12 53682986 53682986 C T exonic ESPL1 NA synonymous SNV ESPL1:NM_012291:exon21:c.C4821T:p.C1607C exonic ENSG00000135476 NA synonymous SNV ENSG00000135476:ENST00000257934:exon21:c.C4821T:p.C1607C,ENSG00000135476:ENST00000552462:exon21:c.C4821T:p.C1607C Score=566;Name=lod=266 NA 12q13.13 Score=769;Name=V$MIF1_01 NA Name=2 NA rs3214023 0.49 0.49 0.467 0.452676 0.6064 0.3899 0.5764 0.3449 0.4172 0.62 0.4 0.57 0.35 0.5362 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195157 NA NA 0.610581 0.378121 NA 0.471 NA 6.9134856 961 6 29912405 29912405 G A intronic HLA-A NA NA NA exonic ENSG00000206503 NA nonsynonymous SNV ENSG00000206503:ENST00000376806:exon5:c.G1024A:p.V342M NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs9260192 NA NA 0.076 0.115016 0.1213 0.0585 0.1023 0.1725 0.0982 NA NA NA NA 0.0696 0.088 . . 0.438 B 0.032 B . . 1.000 P . . 5.92 T -1.030 T 0.001 T 0.213 -0.578 1.4 -0.704 -0.206 -0.906 4.159 -0.578283 NA 0.36 0.063425 0.088528 NA 0.058 NA 6.9123417 961 19 43529026 43529026 C T exonic PSG11 NA nonsynonymous SNV PSG11:NM_002785:exon2:c.G247A:p.V83I exonic ENSG00000243130 NA nonsynonymous SNV ENSG00000243130:ENST00000320078:exon2:c.G247A:p.V83I,ENSG00000243130:ENST00000401740:exon2:c.G247A:p.V83I,ENSG00000243130:ENST00000593983:exon2:c.G139A:p.V47I,ENSG00000243130:ENST00000598133:exon2:c.G247A:p.V83I NA NA 19q13.31 NA NA NA NA rs2471952 0.55 0.55 0.59 0.641973 0.4722 0.9871 0.4928 0.6407 0.5685 0.39 0.88 0.44 0.5 0.5179 0.88 0.22 T 0.004 B 0.053 B . . 1.000 P 0.485 N -0.26 T -1.022 T 0.000 T 0.04 -0.3 2.568 -1.65 -0.586 -2.856 3.934 -0.300368 NA 0.36 0.431215 0.634834 NA NA NA 6.9120184 961 5 178581859 178581859 G A exonic ADAMTS2 NA synonymous SNV ADAMTS2:NM_014244:exon7:c.C1194T:p.D398D,ADAMTS2:NM_021599:exon7:c.C1194T:p.D398D exonic ENSG00000087116 NA synonymous SNV ENSG00000087116:ENST00000251582:exon7:c.C1194T:p.D398D,ENSG00000087116:ENST00000274609:exon7:c.C1194T:p.D398D Score=590;Name=lod=332 NA 5q35.3 Score=768;Name=V$PAX6_01 NA NA NA rs2278221 0.22 0.22 0.203 0.228435 0.2475 0.3185 0.2925 0.0446 0.319 0.24 0.32 0.26 0.04 0.267 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.098797 NA NA 0.242326 0.078756 NA 0.152 NA 6.9098406 961 3 41925398 41925398 C T exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon17:c.G1624A:p.A542T exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon17:c.G1624A:p.A542T,ENSG00000168038:ENST00000420927:exon17:c.G1624A:p.A542T NA Name=Multiple myeloma 3p22.1 NA Name=USF-1 NA NA rs1052501 0.71 0.71 0.667 0.688498 0.8101 0.8532 0.8184 0.3041 0.8211 0.8 0.84 0.82 0.32 0.7885 0.84 1 T 0.0 B 0.0 B 0.465 N 1.000 P -1.79 N 0.71 T -0.981 T 0.000 T 0.022 -0.941 0.358 0.24 -0.461 -0.120 3.74 -0.940846 NA 1 0.825902 0.376113 NA 0.638 NA 6.9088314 961 2 45171842 45171842 A G exonic SIX3 NA synonymous SNV SIX3:NM_005413:exon2:c.A942G:p.A314A exonic ENSG00000138083 NA synonymous SNV ENSG00000138083:ENST00000260653:exon2:c.A942G:p.A314A Score=708;Name=lod=1009 NA 2p21 Score=712;Name=V$NRSF_01 Name=SUZ12,CtBP2,NRSF Name=9 NA rs338074 0.95 0.95 0.94 0.9375 0.9165 0.9901 0.9323 0.9773 0.8548 0.91 0.99 0.92 0.97 0.9215 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343872 1.343872 NA 0.920413 0.96905 NA 0.891 NA 6.9082536 961 15 93536197 93536197 C T exonic CHD2 NA synonymous SNV CHD2:NM_001271:exon28:c.C3564T:p.Y1188Y exonic ENSG00000173575 NA synonymous SNV ENSG00000173575:ENST00000394196:exon28:c.C3564T:p.Y1188Y,ENSG00000173575:ENST00000557381:exon28:c.C3564T:p.Y1188Y Score=496;Name=lod=138 NA 15q26.1 NA NA Name=3 NA rs2272457 0.19 0.19 0.193 0.19349 0.2604 0.1319 0.2046 0.1702 0.2117 0.25 0.14 0.21 0.16 0.2266 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218002 NA NA 0.273965 0.19868 NA 0.312 NA 6.9057016 961 12 4736569 4736569 A G exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.T1499C:p.I500T exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000228850:exon4:c.T1499C:p.I500T,ENSG00000111254:ENST00000545990:exon5:c.T1499C:p.I500T NA NA 12p13.32 NA NA NA NA rs12366671 0.09 0.09 0.078 0.0882588 0.1431 0.0774 0.1037 0.0098 0.138 0.13 0.06 0.13 0.02 0.1279 0.16 1 T 0.0 B 0.001 B 0.716 N 1.000 P -1.7 N 3.23 T -0.936 T 0.000 T 0.021 -1.443 0.02 0.433 -0.080 0.545 4.291 -1.442911 NA 0.92 0.156977 0.031094 NA 0.058 NA 6.9053564 962 22 41903813 41903813 A C exonic ACO2 NA synonymous SNV ACO2:NM_001098:exon3:c.A192C:p.T64T exonic ENSG00000100412 NA synonymous SNV ENSG00000100412:ENST00000216254:exon3:c.A192C:p.T64T,ENSG00000100412:ENST00000396512:exon3:c.A192C:p.T64T Score=483;Name=lod=122 NA 22q13.2 NA NA NA NA rs137831 0.39 0.39 0.346 0.418331 0.2306 0.5734 0.5418 0.3714 0.4274 0.22 0.52 0.53 0.38 0.3211 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680767 NA NA 0.211512 0.348616 NA 0.406 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116216.2|RCV000123480.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.9034546 962 16 58552921 58552921 G A exonic SETD6 NA synonymous SNV SETD6:NM_001160305:exon8:c.G1410A:p.E470E,SETD6:NM_024860:exon9:c.G1338A:p.E446E exonic ENSG00000103037 NA synonymous SNV ENSG00000103037:ENST00000219315:exon8:c.G1410A:p.E470E,ENSG00000103037:ENST00000310682:exon9:c.G1338A:p.E446E,ENSG00000103037:ENST00000394266:exon9:c.G1203A:p.E401E Score=389;Name=lod=51 NA 16q21 NA Name=PU.1,Pol2 Name=12 NA rs3607 0.74 0.74 0.765 0.769569 0.5616 0.9544 0.7104 0.8026 0.7904 0.58 0.96 0.7 0.78 0.6527 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.412512 NA NA 0.549186 0.756597 NA 0.739 NA 6.9031806 962 2 11774324 11774324 G A exonic GREB1 NA nonsynonymous SNV GREB1:NM_014668:exon29:c.G5059A:p.D1687N exonic ENSG00000196208 NA nonsynonymous SNV ENSG00000196208:ENST00000396123:exon12:c.G2053A:p.D685N,ENSG00000196208:ENST00000234142:exon28:c.G5059A:p.D1687N,ENSG00000196208:ENST00000381486:exon29:c.G5059A:p.D1687N NA NA 2p25.1 NA NA NA NA rs2304402 0.41 0.41 0.42 0.404952 0.4771 0.2996 0.3573 0.4213 0.4509 0.47 0.31 0.39 0.45 0.4485 0.58 0.99 T 0.001 B 0.002 B 0.001 N 0.000 P -0.455 N 1.02 T -0.912 T 0.000 T 0.045 -0.281 2.656 1.17 -0.305 1.219 9.407 -0.280878 NA 0.84 0.506 0.423867 NA 0.486 NA 6.9017334 962 1 248224099 248224099 T C exonic OR2L3 NA nonsynonymous SNV OR2L3:NM_001004687:exon1:c.T116C:p.I39T exonic ENSG00000198128 NA nonsynonymous SNV ENSG00000198128:ENST00000359959:exon1:c.T116C:p.I39T NA NA 1q44 NA NA NA NA rs6666048 0.21 0.21 0.189 0.188299 0.1461 0.254 0.098 0.298 0.0798 0.14 0.3 0.1 0.3 0.148 0.3 0.62 T 0.0 B 0.002 B . . 1.000 P -0.155 N 7.19 T -1.180 T 0.000 T 0.103 -2.829 0 0.726 0.023 0.425 7.338 -2.828662 NA 0.64 0.138003 0.273718 NA 0.174 NA 6.9012304 962 3 184075047 184075047 A G exonic CLCN2 NA synonymous SNV CLCN2:NM_001171088:exon8:c.T774C:p.I258I,CLCN2:NM_001171087:exon9:c.T906C:p.I302I,CLCN2:NM_001171089:exon9:c.T906C:p.I302I,CLCN2:NM_004366:exon9:c.T906C:p.I302I exonic ENSG00000114859 NA synonymous SNV ENSG00000114859:ENST00000434054:exon8:c.T774C:p.I258I,ENSG00000114859:ENST00000265593:exon9:c.T906C:p.I302I,ENSG00000114859:ENST00000344937:exon9:c.T906C:p.I302I,ENSG00000114859:ENST00000457512:exon9:c.T906C:p.I302I Score=441;Name=lod=83 NA 3q27.1 NA NA Name=2 NA rs2228291 0.36 0.36 0.362 0.355032 0.2356 0.373 0.4352 0.4735 0.2423 0.23 0.42 0.37 0.5 0.2922 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.964669 NA NA 0.237791 0.438266 NA 0.297 NA 6.9010756 962 21 43256252 43256252 C T exonic PRDM15 NA synonymous SNV PRDM15:NM_001040424:exon10:c.G1359A:p.Q453Q,PRDM15:NM_022115:exon17:c.G2346A:p.Q782Q exonic ENSG00000141956 NA synonymous SNV ENSG00000141956:ENST00000447207:exon9:c.G1248A:p.Q416Q,ENSG00000141956:ENST00000398548:exon10:c.G1359A:p.Q453Q,ENSG00000141956:ENST00000422911:exon10:c.G1359A:p.Q453Q,ENSG00000141956:ENST00000441787:exon10:c.G1188A:p.Q396Q,ENSG00000141956:ENST00000447016:exon10:c.G1248A:p.Q416Q,ENSG00000141956:ENST00000449395:exon10:c.G1359A:p.Q453Q,ENSG00000141956:ENST00000538201:exon10:c.G1248A:p.Q416Q,ENSG00000141956:ENST00000269844:exon17:c.G2346A:p.Q782Q,ENSG00000141956:ENST00000433067:exon17:c.G2346A:p.Q782Q Score=433;Name=lod=77 NA 21q22.3 NA Name=Pol2 Name=5 NA rs4920098 0.54 0.54 0.52 0.535743 0.5915 0.4425 0.6671 0.4599 0.5838 0.6 0.44 0.68 0.44 0.5836 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419602 NA NA 0.592674 0.476396 NA 0.522 NA 6.8988926 962 1 16344360 16344360 A G exonic HSPB7 NA synonymous SNV HSPB7:NM_014424:exon1:c.T99C:p.A33A exonic ENSG00000173641 NA synonymous SNV ENSG00000173641:ENST00000311890:exon1:c.T99C:p.A33A,ENSG00000173641:ENST00000406363:exon1:c.T99C:p.A33A,ENSG00000173641:ENST00000411503:exon1:c.T99C:p.A33A,ENSG00000173641:ENST00000487046:exon1:c.T99C:p.A33A,ENSG00000173641:ENST00000545268:exon1:c.T99C:p.A33A Score=278;Name=lod=18 NA 1p36.13 NA Name=CTCF Name=23 NA rs732286 0.64 0.64 0.623 0.648962 0.5934 0.7639 0.4553 0.7103 0.6421 0.58 0.75 0.48 0.71 0.5893 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.846754 1.846754 NA 0.585136 0.682561 NA 0.652 NA 6.8988306 962 9 125239253 125239253 T C exonic OR1J1 NA nonsynonymous SNV OR1J1:NM_001004451:exon1:c.A953G:p.N318S exonic ENSG00000136834 NA nonsynonymous SNV ENSG00000136834:ENST00000259357:exon1:c.A953G:p.N318S NA NA 9q33.2 NA NA NA NA rs1962091 0.64 0.64 0.611 0.65615 0.4602 0.7956 0.4741 0.8593 0.5685 0.47 0.81 0.45 0.83 0.537 0.83 1 T 0.0 B 0.0 B . . 1.000 P 0.345 N 2.93 T -0.932 T 0.000 T 0.001 -2.582 0 -1.28 -1.705 -2.309 . -2.58161 NA 1 0.437413 0.808583 NA 0.732 NA 6.8987204 962 2 238277795 238277795 A G exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon7:c.T2490C:p.I830I,COL6A3:NM_057167:exon9:c.T3693C:p.I1231I,COL6A3:NM_004369:exon10:c.T4311C:p.I1437I exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon7:c.T2490C:p.I830I,ENSG00000163359:ENST00000409809:exon8:c.T3693C:p.I1231I,ENSG00000163359:ENST00000346358:exon9:c.T3711C:p.I1237I,ENSG00000163359:ENST00000347401:exon9:c.T3708C:p.I1236I,ENSG00000163359:ENST00000353578:exon9:c.T3693C:p.I1231I,ENSG00000163359:ENST00000295550:exon10:c.T4311C:p.I1437I Score=422;Name=lod=69 NA 2q37.3 NA NA NA NA rs2646260 0.35 0.35 0.326 0.388379 0.2455 0.2956 0.3473 0.6422 0.317 0.23 0.29 0.35 0.61 0.2889 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364636 NA NA 0.23407 0.567635 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080938.2;CLNDSDB=.;CLNDSDBID=. 6.8981966 962 1 178483231 178483231 G A intronic TEX35 NA NA NA exonic ENSG00000240021 NA nonsynonymous SNV ENSG00000240021:ENST00000367642:exon2:c.G109A:p.A37T NA NA 1q25.2 NA NA NA NA rs10913563 0.4 0.4 0.382 0.366613 0.4533 0.4048 0.4827 0.2239 0.3487 0.44 0.42 0.46 0.26 0.4029 0.49 . . . . . . . . 1.000 P . . 0.62 T -0.905 T 0.000 T 0.226 3.501 17.9 2.42 0.550 1.614 6.178 3.50129 3.50129 0 0.413372 0.260554 NA 0.514 NA 6.8970947 962 7 129813738 129813738 T C exonic TMEM209 NA synonymous SNV TMEM209:NM_032842:exon12:c.A1386G:p.L462L exonic ENSG00000146842 NA synonymous SNV ENSG00000146842:ENST00000336804:exon11:c.A1257G:p.L419L,ENSG00000146842:ENST00000473456:exon11:c.A1260G:p.L420L,ENSG00000146842:ENST00000397622:exon12:c.A1386G:p.L462L,ENSG00000146842:ENST00000462753:exon12:c.A1383G:p.L461L Score=655;Name=lod=613 NA 7q32.2 Score=721;Name=V$HOX13_01 NA NA NA rs3823482 0.3 0.3 0.298 0.303514 0.2604 0.5546 0.2651 0.1346 0.3446 0.26 0.53 0.26 0.13 0.2783 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.521511 1.521511 NA 0.23213 0.146804 NA 0.275 NA 6.8958366 963 12 7276847 7276847 A T intronic RBP5 NA NA NA intronic ENSG00000139194 NA NA NA Score=235;Name=lod=12 NA 12p13.31 NA Name=TCF4,c-Fos Name=18 NA rs12824504 0.1 0.1 0.099 0.0932508 0.1054 0.1766 0.0692 0.0038 0.1329 0.11 0.19 0.07 0.002 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.14504 2.14504 NA NA NA NA 0.138 NA 6.8946 963 8 120940652 120940652 C T exonic DEPTOR NA synonymous SNV DEPTOR:NM_022783:exon2:c.C135T:p.H45H exonic ENSG00000155792 NA synonymous SNV ENSG00000155792:ENST00000286234:exon2:c.C135T:p.H45H Score=613;Name=lod=415 NA 8q24.12 NA Name=MafK_(ab50322) NA NA rs16893299 0.21 0.21 0.222 0.248802 0.2416 0.0367 0.1873 0.379 0.3425 0.24 0.02 0.22 0.38 0.2673 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671836 NA NA 0.263721 0.359737 NA 0.399 NA 6.8940456 963 17 48559559 48559559 A G exonic RSAD1 NA synonymous SNV RSAD1:NM_018346:exon4:c.A582G:p.V194V exonic ENSG00000136444 NA synonymous SNV ENSG00000136444:ENST00000506211:exon1:c.A102G:p.V34V,ENSG00000136444:ENST00000515221:exon2:c.A243G:p.V81V,ENSG00000136444:ENST00000258955:exon4:c.A582G:p.V194V Score=471;Name=lod=109 NA 17q21.33 NA NA Name=3 NA rs7210579 0.26 0.26 0.276 0.285343 0.2594 0.0804 0.2723 0.4909 0.2546 0.26 0.07 0.28 0.45 0.2641 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.08708 NA NA 0.250058 0.443032 ID=COSM1384222;OCCURENCE=1(large_intestine) 0.384 NA 6.8931086 963 22 23523630 23523630 C A exonic BCR NA synonymous SNV BCR:NM_004327:exon1:c.C483A:p.I161I,BCR:NM_021574:exon1:c.C483A:p.I161I exonic ENSG00000186716 NA synonymous SNV ENSG00000186716:ENST00000305877:exon1:c.C483A:p.I161I,ENSG00000186716:ENST00000359540:exon1:c.C483A:p.I161I,ENSG00000186716:ENST00000398512:exon1:c.C483A:p.I161I Score=459;Name=lod=98 NA 22q11.23 NA NA Name=28 NA rs5751602 0.3 0.3 0.254 0.291534 0.2396 0.3542 0.3602 0.3238 0.1881 0.26 0.37 0.29 0.32 0.2894 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197217 NA NA 0.244799 0.277214 NA 0.21 NA 6.8928676 963 6 51947237 51947237 G A exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon4:c.C234T:p.D78D,PKHD1:NM_170724:exon4:c.C234T:p.D78D exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon4:c.C234T:p.D78D,ENSG00000170927:ENST00000371117:exon4:c.C234T:p.D78D NA NA 6p12.2 Score=906;Name=V$ATF_01 NA NA NA rs9474143 0.34 0.34 0.345 0.354433 0.2455 0.4306 0.2536 0.3949 0.4049 0.24 0.42 0.25 0.44 0.2844 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480491 NA NA 0.243953 0.396732 ID=COSM150105;OCCURENCE=1(stomach) 0.297 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082538.1;CLNDSDB=.;CLNDSDBID=. 6.8928136 963 13 76378459 76378459 T C exonic LMO7 NA synonymous SNV LMO7:NM_005358:exon9:c.T852C:p.F284F exonic ENSG00000136153 NA synonymous SNV ENSG00000136153:ENST00000526202:exon6:c.T579C:p.F193F,ENSG00000136153:ENST00000377499:exon8:c.T696C:p.F232F,ENSG00000136153:ENST00000341547:exon9:c.T852C:p.F284F,ENSG00000136153:ENST00000357063:exon9:c.T852C:p.F284F,ENSG00000136153:ENST00000377534:exon9:c.T852C:p.F284F Score=523;Name=lod=178 NA 13q22.2 NA NA NA NA rs625033 0.94 0.94 0.938 0.94369 0.9245 1 0.9323 0.8896 0.9867 0.92 1 0.93 0.91 0.9362 1 . . . . . . . . 0.000 P . . . . . . . . . 0.391 6.124 5.22 0.891 2.833 7.798 0.391144 NA NA 0.915 0.875397 NA 0.928 NA 6.8909666 963 5 23303772 23303772 A C intergenic CDH12,PRDM9 dist=450041;dist=203952 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=696;Name=lod=899 NA 5p14.2 NA Name=Rad21,CTCF_(C-20),CTCF,SMC3_(ab9263),CTCF_(SC-5916) Name=2 NA rs34757351 0.06 0.06 0.046 0.0760783 0.1093 0.0446 0.1052 0.0189 0.1309 0.09 0.04 0.09 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187282 NA NA NA NA NA 0.022 NA 6.8907 963 9 18775810 18775810 C A exonic ADAMTSL1 NA nonsynonymous SNV ADAMTSL1:NM_001040272:exon18:c.C2467A:p.L823I exonic ENSG00000178031 NA nonsynonymous SNV ENSG00000178031:ENST00000380548:exon18:c.C2467A:p.L823I NA NA 9p22.1 NA NA NA NA rs934472 0.43 0.43 0.461 0.435703 0.4573 0.4603 0.3458 0.3661 0.546 0.47 0.47 0.34 0.41 0.5014 0.48 0.23 T 0.0 B 0.001 B 1.000 U 1.000 P 1.95 M -0.0 T -0.955 T 0.000 T 0.015 -0.973 0.303 1.61 -0.183 -0.163 7.622 -0.97288 NA 0.2 0.484732 0.375887 NA 0.464 NA 6.8899014 963 2 204322298 204322298 T C exonic RAPH1 NA synonymous SNV RAPH1:NM_213589:exon8:c.A1113G:p.K371K,RAPH1:NM_203365:exon10:c.A1269G:p.K423K exonic ENSG00000173166 NA synonymous SNV ENSG00000173166:ENST00000418114:exon7:c.A1113G:p.K371K,ENSG00000173166:ENST00000419464:exon7:c.A1113G:p.K371K,ENSG00000173166:ENST00000319170:exon8:c.A1113G:p.K371K,ENSG00000173166:ENST00000423104:exon8:c.A1194G:p.K398K,ENSG00000173166:ENST00000439222:exon8:c.A1188G:p.K396K,ENSG00000173166:ENST00000457812:exon8:c.A1113G:p.K371K,ENSG00000173166:ENST00000374488:exon9:c.A1188G:p.K396K,ENSG00000173166:ENST00000374489:exon9:c.A1194G:p.K398K,ENSG00000173166:ENST00000374493:exon9:c.A1269G:p.K423K,ENSG00000173166:ENST00000308091:exon10:c.A1269G:p.K423K,ENSG00000173166:ENST00000453034:exon10:c.A1269G:p.K423K Score=618;Name=lod=435 NA 2q33.2 Score=949;Name=V$AREB6_04 NA Name=9 NA rs2469953 0.56 0.56 0.545 0.596845 0.5905 0.4067 0.5245 0.7262 0.6759 0.57 0.37 0.57 0.74 0.5862 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952764 NA NA 0.601163 0.6936 NA 0.63 NA 6.8888036 963 2 43768545 43768545 T G intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA Score=366;Name=lod=41 NA 2p21 NA Name=STAT3 Name=50 NA rs72790940 0.1 0.1 0.098 0.121006 0.1133 0.0069 0.0749 0.2073 0.1626 0.11 0.01 0.08 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519745 NA NA NA NA NA 0.152 NA 6.8867 963 11 87908563 87908563 G A UTR5 RAB38 NM_022337:c.-11C>T NA NA exonic ENSG00000123892 NA unknown UNKNOWN NA NA 11q14.2 NA Name=Pol2,TAF1,ZNF263,Pol2-4H8,Egr-1,PAX5-C20 Name=68 NA rs3812730 0.22 0.22 0.235 0.207468 0.2674 0.1667 0.2522 0.177 0.1973 0.26 0.17 0.25 0.18 0.2389 0.27 . . . . . . . . 0.999 P . . . . -0.985 T 0.000 T . 2.172 13.22 -0.563 -0.267 -0.002 3.702 2.172124 2.172124 NA 0.274831 0.189914 NA 0.261 NA 6.8855357 964 14 77844869 77844869 A G exonic SAMD15 NA nonsynonymous SNV SAMD15:NM_001010860:exon1:c.A1108G:p.K370E exonic ENSG00000100583 NA nonsynonymous SNV ENSG00000100583:ENST00000216471:exon1:c.A1108G:p.K370E NA NA 14q24.3 NA NA NA NA rs4903576 0.49 0.49 0.464 0.523163 0.497 0.0893 0.4841 0.9259 0.4806 0.49 0.08 0.54 0.92 0.4845 0.92 1 T 0.0 B 0.0 B 0.459 N 1.000 P -0.55 N 1.52 T -0.987 T 0.000 T 0.065 -0.988 0.279 2.43 0.262 -0.524 4.454 -0.987681 NA 1 0.46686 0.848389 ID=COSM147820;OCCURENCE=1(stomach) 0.616 NA 6.8849734 964 X 134156121 134156121 G C UTR3 FAM127C NM_001078173:c.*27C>G NA NA UTR3 ENSG00000212747 ENST00000391440:c.*27C>G NA NA NA NA Xq26.3 NA Name=Pol2 NA NA rs2475853 0.7 0.7 0.71622 NA NA NA NA NA NA 0.74 0.61 0.66 0.77 0.7109 0.77 0 D . . . . . . 1.000 P . . . . -0.976 T 0.000 T . 0.489 6.655 1.4 -0.001 -1.755 7.505 0.489293 NA NA 0.738657 0.735364 NA 0.493 NA 6.8837764 964 18 3581966 3581966 G A exonic DLGAP1 NA synonymous SNV DLGAP1:NM_001003809:exon5:c.C966T:p.T322T,DLGAP1:NM_001242762:exon5:c.C924T:p.T308T,DLGAP1:NM_001242764:exon5:c.C990T:p.T330T,DLGAP1:NM_001242765:exon5:c.C966T:p.T322T,DLGAP1:NM_001242763:exon6:c.C1038T:p.T346T,DLGAP1:NM_001242766:exon6:c.C996T:p.T332T,DLGAP1:NM_001242761:exon8:c.C1872T:p.T624T,DLGAP1:NM_004746:exon8:c.C1872T:p.T624T exonic ENSG00000170579 NA synonymous SNV ENSG00000170579:ENST00000400145:exon5:c.C966T:p.T322T,ENSG00000170579:ENST00000400147:exon5:c.C966T:p.T322T,ENSG00000170579:ENST00000400155:exon5:c.C990T:p.T330T,ENSG00000170579:ENST00000534970:exon5:c.C924T:p.T308T,ENSG00000170579:ENST00000581699:exon5:c.C990T:p.T330T,ENSG00000170579:ENST00000584874:exon5:c.C1872T:p.T624T,ENSG00000170579:ENST00000400149:exon6:c.C942T:p.T314T,ENSG00000170579:ENST00000400150:exon6:c.C1020T:p.T340T,ENSG00000170579:ENST00000539435:exon6:c.C996T:p.T332T,ENSG00000170579:ENST00000515196:exon7:c.C1872T:p.T624T,ENSG00000170579:ENST00000315677:exon8:c.C1872T:p.T624T,ENSG00000170579:ENST00000581527:exon8:c.C1872T:p.T624T NA NA 18p11.31 Score=863;Name=V$CREB_Q4 Name=GATA-2 NA NA rs56017170 0.15 0.15 0.116 0.123003 0.3062 0.005 0.2291 0.0303 0.1063 0.28 0.01 0.27 0.03 0.2102 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329373 NA NA 0.266744 0.064231 NA 0.188 NA 6.8835226 964 1 45504720 45504720 G C exonic ZSWIM5 NA synonymous SNV ZSWIM5:NM_020883:exon8:c.C1782G:p.T594T exonic ENSG00000162415 NA synonymous SNV ENSG00000162415:ENST00000359600:exon8:c.C1782G:p.T594T Score=576;Name=lod=291 NA 1p34.1 Score=833;Name=V$FAC1_01 Name=Pol2,TAL1_(SC-12984),GABP,p300_(F-4),eGFP-JunB,GATA-1,Pol2(b),eGFP-GATA2 NA NA rs7551698 0.52 0.52 0.512 0.510383 0.6183 0.4544 0.4337 0.3805 0.6871 0.62 0.52 0.49 0.39 0.5688 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112891 NA NA 0.596107 0.400372 NA 0.406 NA 6.8834596 964 9 131586374 131586374 G A exonic C9orf114 NA synonymous SNV C9orf114:NM_016390:exon10:c.C891T:p.A297A exonic ENSG00000198917 NA synonymous SNV ENSG00000198917:ENST00000467582:exon2:c.C132T:p.A44A,ENSG00000198917:ENST00000361256:exon10:c.C891T:p.A297A Score=321;Name=lod=27 NA 9q34.11 Score=866;Name=V$COUP_01 NA NA NA rs7033070 0.29 0.29 0.309 0.359824 0.2535 0.2669 0.2032 0.559 0.407 0.21 0.25 0.21 0.51 0.2814 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657767 NA NA 0.248605 0.491602 ID=COSM455428;OCCURENCE=1(breast) 0.297 NA 6.8831616 964 15 99653800 99653800 T C exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA nonsynonymous SNV ENSG00000182253:ENST00000328642:exon3:c.T812C:p.V271A,ENSG00000182253:ENST00000336292:exon3:c.T812C:p.V271A Score=289;Name=lod=20 NA 15q26.3 NA NA NA NA rs2305445 0.58 0.58 0.58 0.574681 0.6143 0.6944 0.5432 0.444 0.6094 0.61 0.71 0.54 0.43 0.5891 0.71 0.13 T 0.056 B 0.141 B . . 0.535 P . . -2.33 D -0.952 T 0.000 T 0.314 1.954 12.49 0.178 -0.537 0.350 3.313 1.95355 1.95355 0.02 0.580323 0.473836 NA 0.543 NA 6.8829437 964 10 73521371 73521371 C T exonic C10orf54 NA synonymous SNV C10orf54:NM_022153:exon2:c.G495A:p.E165E exonic ENSG00000107738 NA synonymous SNV ENSG00000107738:ENST00000394957:exon2:c.G495A:p.E165E Score=419;Name=lod=67 NA 10q22.1 NA Name=CTCF_(C-20),SMC3_(ab9263),Rad21,CTCF NA NA rs3747867 0.21 0.21 0.205 0.186502 0.2744 0.1935 0.1729 0.1551 0.1411 0.28 0.17 0.17 0.16 0.2573 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04524 NA NA 0.252907 0.181571 NA 0.167 NA 6.8820596 964 9 117166246 117166246 A G exonic DFNB31 NA nonsynonymous SNV DFNB31:NM_001083885:exon10:c.T1199C:p.V400A,DFNB31:NM_001173425:exon10:c.T2345C:p.V782A,DFNB31:NM_015404:exon10:c.T2348C:p.V783A exonic ENSG00000095397 NA nonsynonymous SNV ENSG00000095397:ENST00000374059:exon6:c.T1295C:p.V432A,ENSG00000095397:ENST00000265134:exon10:c.T1199C:p.V400A,ENSG00000095397:ENST00000362057:exon10:c.T2348C:p.V783A NA NA 9q32 NA NA NA NA rs2274159 0.42 0.42 0.389 0.40635 0.4732 0.4742 0.4914 0.1906 0.499 0.47 0.49 0.51 0.2 0.4786 0.51 1 T 0.0 B 0.001 B 0.019 N 1.000 P -1.1 N 4.13 T -0.946 T 0.000 T 0.023 -1.149 0.104 1.09 -0.048 0.845 6.511 -1.148602 NA 1 0.499884 0.236723 NA 0.435 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038890.1;CLNDSDB=.;CLNDSDBID=. 6.8816494 964 1 182027022 182027022 C T exonic ZNF648 NA nonsynonymous SNV ZNF648:NM_001009992:exon2:c.G124A:p.E42K exonic ENSG00000179930 NA nonsynonymous SNV ENSG00000179930:ENST00000339948:exon2:c.G124A:p.E42K NA NA 1q25.3 NA NA NA NA rs12564283 0.17 0.17 0.142 0.175719 0.1471 0.2827 0.121 0.0862 0.2546 0.15 0.28 0.11 0.11 0.1681 0.28 0.48 T 0.002 B 0.001 B . . 1.000 P 0.255 N 3.13 T -0.899 T 0.000 T 0.089 1.079 9.404 0.787 0.218 0.313 7.042 1.078777 NA 0.22 0.136744 0.093509 NA 0.196 NA 6.8813894 964 20 3515924 3515924 G A exonic ATRN NA synonymous SNV ATRN:NM_001207047:exon2:c.G87A:p.V29V,ATRN:NM_139321:exon2:c.G435A:p.V145V,ATRN:NM_139322:exon2:c.G435A:p.V145V exonic ENSG00000088812 NA synonymous SNV ENSG00000088812:ENST00000262919:exon2:c.G435A:p.V145V,ENSG00000088812:ENST00000446916:exon2:c.G435A:p.V145V Score=646;Name=lod=561 NA 20p13 Score=845;Name=V$TAL1BETAITF2_01 NA NA NA rs151518 0.2 0.2 0.194 0.191693 0.2873 0.0169 0.1945 0.3306 0.0838 0.27 0.02 0.21 0.3 0.2247 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932477 NA NA 0.274884 0.322061 NA 0.159 NA 6.8797826 964 14 20264814 20264814 T G intergenic OR4M1,OR4N2 dist=15391;dist=30794 NA NA ncRNA_exonic ENSG00000258564 NA NA NA Score=313;Name=lod=25 NA 14q11.2 NA Name=CTCF Name=4 NA rs140915767 0.08 0.08 0.064 0.0654952 0.1203 0.0952 0.0418 0.0061 0.0757 0.13 0.09 0.04 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.425721 2.425721 NA NA NA NA 0.072 NA 6.8797 964 20 3515951 3515951 C T exonic ATRN NA synonymous SNV ATRN:NM_001207047:exon2:c.C114T:p.Y38Y,ATRN:NM_139321:exon2:c.C462T:p.Y154Y,ATRN:NM_139322:exon2:c.C462T:p.Y154Y exonic ENSG00000088812 NA synonymous SNV ENSG00000088812:ENST00000262919:exon2:c.C462T:p.Y154Y,ENSG00000088812:ENST00000446916:exon2:c.C462T:p.Y154Y Score=646;Name=lod=561 NA 20p13 Score=787;Name=V$MEF2_03 NA NA NA rs151519 0.2 0.2 0.19 0.192093 0.2893 0.0169 0.1945 0.3306 0.0838 0.27 0.02 0.21 0.3 0.2247 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859567 NA NA 0.275233 0.323196 NA 0.109 NA 6.8774336 964 12 52631313 52631313 A G exonic KRT7 NA nonsynonymous SNV KRT7:NM_005556:exon3:c.A557G:p.H186R exonic ENSG00000135480 NA nonsynonymous SNV ENSG00000135480:ENST00000331817:exon3:c.A557G:p.H186R NA NA 12q13.13 NA Name=Pol2 NA NA rs6580870 0.86 0.86 0.856 0.872005 0.8191 0.9028 0.8386 0.9198 0.8538 0.83 0.9 0.78 0.91 0.8322 0.92 0.67 T 0.0 B 0.001 B 0.177 N 1.000 P -2.19 N -1.29 T -0.910 T 0.000 T 0.23 -0.473 1.82 -2.67 -0.702 -0.038 14.85 -0.472602 NA 0.38 0.804651 0.89832 NA 0.841 NA 6.8773824 964 2 97877440 97877440 T C exonic ANKRD36 NA nonsynonymous SNV ANKRD36:NM_001164315:exon58:c.T3431C:p.M1144T exonic ENSG00000135976 NA nonsynonymous SNV ENSG00000135976:ENST00000420699:exon58:c.T3431C:p.M1144T,ENSG00000135976:ENST00000461153:exon58:c.T3431C:p.M1144T NA NA 2q11.2 NA NA NA NA rs35711845 NA NA 0.305 0.264377 0.5129 0.1964 0.3602 0.0885 0.2485 NA NA NA NA 0.4457 0.5 0.37 T 0.0 B 0.0 B . . 1.000 P 0 N -1.08 T -0.959 T 0.000 T 0.039 -0.455 1.894 -2.3 -0.591 0.779 1.549 -0.454824 NA NA 0.497486 0.180636 NA 0.304 NA 6.8772474 964 2 170917648 170917648 A G exonic UBR3 NA synonymous SNV UBR3:NM_172070:exon34:c.A4845G:p.L1615L exonic ENSG00000144357 NA synonymous SNV ENSG00000144357:ENST00000439681:exon9:c.A945G:p.L315L,ENSG00000144357:ENST00000392631:exon11:c.A1308G:p.L436L,ENSG00000144357:ENST00000272793:exon34:c.A4845G:p.L1615L,ENSG00000144357:ENST00000418381:exon34:c.A4845G:p.L1615L NA NA 2q31.1 NA NA NA NA rs10203212 0.3 0.3 0.307 0.332069 0.2525 0.4077 0.1945 0.3185 0.4519 0.26 0.38 0.22 0.34 0.2813 0.38 . . . . . . . . 0.000 P . . . . -1.017 T 0.000 T . 0.579 7.125 -10.7 -2.018 -0.900 6.072 0.578734 NA NA 0.2557 0.326146 NA 0.239 NA 6.8771666 964 19 53345095 53345095 G A exonic ZNF468 NA nonsynonymous SNV ZNF468:NM_001008801:exon4:c.C452T:p.P151L exonic ENSG00000204604 NA nonsynonymous SNV ENSG00000204604:ENST00000390651:exon4:c.C293T:p.P98L,ENSG00000204604:ENST00000595646:exon4:c.C452T:p.P151L,ENSG00000204604:ENST00000396409:exon5:c.C293T:p.P98L NA NA 19q13.41 NA NA NA NA rs61729939 0.09 0.09 0.092 0.110423 0.16 0.0496 0.134 0.1014 0.1176 0.15 0.05 0.1 0.06 0.1383 0.16 0.9 T 0.0 B 0.0 B . . 1.000 P -2.015 N 3.63 T -0.939 T 0.000 T 0.044 -2.302 0.004 0.63 0.125 -0.320 3.566 -2.301757 NA 1 0.15814 0.101906 NA 0.138 NA 6.8768934 964 17 7847955 7847955 C A exonic CNTROB NA nonsynonymous SNV CNTROB:NM_001037144:exon12:c.C1733A:p.P578Q,CNTROB:NM_053051:exon12:c.C1733A:p.P578Q exonic ENSG00000170037 NA nonsynonymous SNV ENSG00000170037:ENST00000380262:exon12:c.C1733A:p.P578Q,ENSG00000170037:ENST00000563694:exon12:c.C1733A:p.P578Q,ENSG00000170037:ENST00000565740:exon12:c.C1733A:p.P578Q NA NA 17p13.1 NA NA NA NA rs11650083 0.56 0.56 0.52 0.604633 0.4493 0.8016 0.6614 0.447 0.7342 0.46 0.74 0.61 0.48 0.549 0.74 0.67 T 0.005 B 0.007 B 0.952 N 1.000 P 0.46 N 1.16 T -0.955 T 0.000 T 0.09 0.958 8.908 -2.37 -0.113 -0.104 4.562 0.957899 NA 0.42 0.459535 0.472537 ID=COSM1387479;OCCURENCE=1(large_intestine) 0.522 NA 6.8754984 964 2 29129418 29129418 A G exonic WDR43 NA synonymous SNV WDR43:NM_015131:exon3:c.A456G:p.E152E exonic ENSG00000163811 NA synonymous SNV ENSG00000163811:ENST00000407426:exon3:c.A456G:p.E152E,ENSG00000163811:ENST00000440983:exon3:c.A189G:p.E63E Score=637;Name=lod=517 NA 2p23.2 NA NA Name=22 NA rs11688605 0.4 0.4 0.35 0.371406 0.2256 0.7907 0.4524 0.1732 0.2996 0.23 0.78 0.41 0.19 0.3445 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890583 NA NA 0.221331 0.179609 NA 0.355 NA 6.8752356 964 14 39644498 39644498 G A exonic PNN NA synonymous SNV PNN:NM_002687:exon1:c.G15A:p.V5V exonic ENSG00000100941 NA synonymous SNV ENSG00000100941:ENST00000216832:exon1:c.G15A:p.V5V,ENSG00000100941:ENST00000553331:exon1:c.G15A:p.V5V,ENSG00000100941:ENST00000556530:exon1:c.G15A:p.V5V Score=650;Name=lod=586 NA 14q21.1 NA Name=GTF2F1_(RAP-74),Oct-2,Pol2(phosphoS2),Pol2,TAF7_(SQ-8),YY1_(C-20),E2F6_(H-50),TAF1,SREBP1,POU2F2,E2F4,TCF12,GTF2B,TBP,NFKB,HEY1,PAX5-N19,PAX5-C20,YY1,RFX5_(N-494),Pol2-4H8,Pbx3,Sin3Ak-20,HA-E2F1,Pol2(b),ELK4 NA NA rs1061583 0.19 0.19 0.163 0.186701 0.2783 0.2321 0.2017 0.0091 0.2751 0.27 0.21 0.23 0.02 0.2511 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.567104 3.567104 NA 0.262209 0.051748 NA 0.196 NA 6.8750576 965 22 42537597 42537597 A G ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN NA NA 22q13.2 NA NA NA NA rs1800754 0.49 0.49 0.437 0.496206 0.4672 0.3036 0.5389 0.6528 0.4826 0.47 0.34 0.52 0.65 0.4921 0.65 1 T 0.0 B 0.0 B 0.035 N 0.000 P . . . . -0.928 T 0.000 T . -1.045 0.201 2.46 0.857 1.734 8.282 -1.044666 NA 1 NA NA NA 0.384 NA 6.8740333 965 1 205801872 205801872 A G exonic PM20D1 NA nonsynonymous SNV PM20D1:NM_152491:exon11:c.T1139C:p.I380T exonic ENSG00000162877 NA nonsynonymous SNV ENSG00000162877:ENST00000367136:exon11:c.T1139C:p.I380T Score=374;Name=lod=44 NA 1q32.1 NA NA NA NA rs1361754 0.33 0.33 0.316 0.281749 0.5219 0.0129 0.3112 0.3487 0.2004 0.52 0.01 0.4 0.35 0.4147 0.52 0.54 T 0.016 B 0.015 B 0.001 N 1.000 P 0.255 N 0.27 T -0.908 T 0.000 T 0.118 -2.402 0.003 -0.108 -0.048 0.906 7.487 -2.40219 NA 0.37 0.522907 0.401725 NA 0.449 NA 6.8738264 965 19 57089375 57089375 A G exonic ZNF470 NA synonymous SNV ZNF470:NM_001001668:exon6:c.A1578G:p.Q526Q exonic ENSG00000197016 NA synonymous SNV ENSG00000197016:ENST00000391709:exon5:c.A1578G:p.Q526Q,ENSG00000197016:ENST00000330619:exon6:c.A1578G:p.Q526Q NA NA 19q13.43 NA Name=ZNF274,SETDB1,KAP1 Name=6 NA rs4570977 0.17 0.17 0.162 0.153554 0.2932 0.0605 0.1484 0.0847 0.2025 0.29 0.06 0.18 0.11 0.2216 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027706 NA NA 0.279651 0.098275 NA 0.232 NA 6.8722156 965 1 34038214 34038214 T C exonic CSMD2 NA nonsynonymous SNV CSMD2:NM_052896:exon51:c.A7660G:p.M2554V exonic ENSG00000121904 NA nonsynonymous SNV ENSG00000121904:ENST00000373381:exon50:c.A7654G:p.M2552V,ENSG00000121904:ENST00000241312:exon51:c.A7660G:p.M2554V NA NA 1p35.1 Score=890;Name=V$E47_02 NA NA NA rs2641962 0.5 0.5 0.47 0.509984 0.494 0.4087 0.6542 0.5424 0.4847 0.48 0.4 0.6 0.57 0.4996 0.6 0.68 T 0.0 B 0.001 B 0.036 N 0.028 P -1.99 N -0.0 T -0.933 T 0.000 T 0.019 -1.389 0.024 1.67 -0.127 0.282 6.160 -1.389467 NA 0.51 0.46814 0.517703 NA 0.507 NA 6.8715934 965 1 209823354 209823354 G A exonic LAMB3 NA synonymous SNV LAMB3:NM_001017402:exon2:c.C138T:p.T46T,LAMB3:NM_000228:exon3:c.C138T:p.T46T,LAMB3:NM_001127641:exon3:c.C138T:p.T46T exonic ENSG00000196878 NA synonymous SNV ENSG00000196878:ENST00000391911:exon2:c.C138T:p.T46T,ENSG00000196878:ENST00000356082:exon3:c.C138T:p.T46T,ENSG00000196878:ENST00000367030:exon3:c.C138T:p.T46T,ENSG00000196878:ENST00000415782:exon3:c.C138T:p.T46T Score=558;Name=lod=247 NA 1q32.2 Score=890;Name=V$AREB6_01 NA NA NA rs2228339 0.28 0.28 0.28 0.297923 0.2674 0.3393 0.4078 0.2088 0.3292 0.26 0.32 0.35 0.22 0.2779 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.525908 1.525908 NA 0.25 0.227417 ID=COSM146754;OCCURENCE=1(stomach) 0.261 NA 6.8713666 965 5 145519821 145519821 G A exonic LARS NA synonymous SNV LARS:NM_020117:exon21:c.C2094T:p.D698D exonic ENSG00000133706 NA synonymous SNV ENSG00000133706:ENST00000274562:exon20:c.C2013T:p.D671D,ENSG00000133706:ENST00000510191:exon20:c.C1932T:p.D644D,ENSG00000133706:ENST00000545646:exon20:c.C1956T:p.D652D,ENSG00000133706:ENST00000394434:exon21:c.C2094T:p.D698D Score=460;Name=lod=99 NA 5q32 Score=750;Name=V$PPARA_01 NA NA NA rs17493851 0.2 0.2 0.157 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2645 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331645 NA NA 0.278837 0.060145 ID=COSM149966;OCCURENCE=1(stomach),1(large_intestine) 0.254 NA 6.8708296 965 12 103246700 103246700 C T exonic PAH NA synonymous SNV PAH:NM_000277:exon7:c.G735A:p.V245V exonic ENSG00000171759 NA synonymous SNV ENSG00000171759:ENST00000553106:exon7:c.G735A:p.V245V,ENSG00000171759:ENST00000307000:exon8:c.G720A:p.V240V Score=653;Name=lod=599 NA 12q23.2 NA NA NA NA rs1042503 0.33 0.33 0.324 0.314896 0.2594 0.7629 0.196 0.0129 0.4029 0.27 0.78 0.19 0.02 0.2906 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.462717 1.462717 NA 0.246047 0.055606 NA 0.37 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000078529.1|RCV000089066.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8706196 965 9 79324955 79324955 C T exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.G2235A:p.M745I exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.G2235A:p.M745I,ENSG00000106772:ENST00000428286:exon8:c.G1158A:p.M386I NA NA 9q21.2 NA NA NA NA rs11145017 0.26 0.26 0.263 0.23742 0.1551 0.4643 0.1599 0.2103 0.18 0.15 0.5 0.14 0.22 0.1851 0.5 0.42 T 0.0 B 0.0 B 0.759 N 0.001 P 0 N 1.01 T -0.899 T 0.000 T 0.179 -1.953 0.007 -0.966 -0.419 0.401 7.249 -1.952972 NA 0.31 0.123116 0.199936 NA 0.167 NA 6.8700174 965 6 29080450 29080450 G A exonic OR2J3 NA nonsynonymous SNV OR2J3:NM_001005216:exon1:c.G783A:p.M261I exonic ENSG00000204701 NA nonsynonymous SNV ENSG00000204701:ENST00000377169:exon1:c.G783A:p.M261I NA NA 6p22.1 NA NA NA NA rs3130765 0.72 0.72 0.718 0.71246 0.8191 0.6071 0.7161 0.6475 0.7965 0.85 0.59 0.71 0.67 0.8038 0.85 0.16 T . . . . . . 1.000 P . . 8.67 T -1.104 T 0.000 T 0.051 -1.446 0.02 -1.98 -1.051 -2.464 2.460 -1.445649 NA 0.5 0.840953 0.7032 NA 0.754 NA 6.8694804 965 10 6002368 6002368 T G exonic IL15RA NA nonsynonymous SNV IL15RA:NM_172200:exon3:c.A446C:p.N149T,IL15RA:NM_001243539:exon4:c.A437C:p.N146T,IL15RA:NM_002189:exon4:c.A545C:p.N182T,IL15RA:NM_001256765:exon5:c.A803C:p.N268T exonic ENSG00000134470 NA nonsynonymous SNV ENSG00000134470:ENST00000379971:exon2:c.A251C:p.N84T,ENSG00000134470:ENST00000397250:exon2:c.A251C:p.N84T,ENSG00000134470:ENST00000397251:exon3:c.A350C:p.N117T,ENSG00000134470:ENST00000429135:exon3:c.A446C:p.N149T,ENSG00000134470:ENST00000528354:exon3:c.A446C:p.N149T,ENSG00000134470:ENST00000530685:exon3:c.A446C:p.N149T,ENSG00000134470:ENST00000379977:exon4:c.A545C:p.N182T,ENSG00000134470:ENST00000397248:exon4:c.A437C:p.N146T,ENSG00000134470:ENST00000397255:exon4:c.A545C:p.N182T,ENSG00000134470:ENST00000453922:exon4:c.A434C:p.N145T,ENSG00000134470:ENST00000525219:exon4:c.A437C:p.N146T,ENSG00000134470:ENST00000397246:exon5:c.A338C:p.N113T NA NA 10p15.1 NA Name=Egr-1 NA NA rs2228059 0.52 0.52 0.522 0.550519 0.4632 0.4266 0.4928 0.7549 0.5327 0.47 0.42 0.5 0.71 0.5122 0.72 1 T 0.0 B 0.001 B 0.699 N 1.000 P -1.355 N 2.34 T -1.002 T 0.000 T 0.125 -2.573 0.003 1.13 -0.084 0.097 3.534 -2.573351 NA 1 0.488605 0.718793 NA 0.413 NA 6.8693284 965 19 42213772 42213772 A G exonic CEACAM5 NA nonsynonymous SNV CEACAM5:NM_004363:exon2:c.A238G:p.I80V exonic ENSG00000105388,ENSG00000267881 NA nonsynonymous SNV ENSG00000105388:ENST00000221992:exon2:c.A238G:p.I80V,ENSG00000105388:ENST00000398599:exon2:c.A238G:p.I80V,ENSG00000105388:ENST00000405816:exon2:c.A238G:p.I80V,ENSG00000267881:ENST00000598976:exon2:c.A238G:p.I80V NA NA 19q13.2 NA NA NA NA rs12971352 0.14 0.14 0.122 0.163339 0.1958 NA 0.1037 0.3986 0.0225 0.17 NA 0.11 0.27 0.1451 0.3 0.95 T 0.005 B 0.07 B . . 1.000 P 0.165 N -0.19 T -0.931 T 0.000 T 0.039 -2.304 0.004 -1.31 -0.113 -0.284 4.830 -2.303796 NA 0.68 0.124302 0.300726 NA 0.232 NA 6.8681314 965 19 41928652 41928652 C T exonic BCKDHA NA synonymous SNV BCKDHA:NM_000709:exon7:c.C972T:p.F324F,BCKDHA:NM_001164783:exon7:c.C969T:p.F323F exonic ENSG00000248098,ENSG00000255730 NA synonymous SNV ENSG00000248098:ENST00000542943:exon6:c.C885T:p.F295F,ENSG00000248098:ENST00000269980:exon7:c.C972T:p.F324F,ENSG00000248098:ENST00000457836:exon7:c.C906T:p.F302F,ENSG00000248098:ENST00000595085:exon7:c.C1074T:p.F358F,ENSG00000255730:ENST00000540732:exon8:c.C1074T:p.F358F Score=594;Name=lod=346 NA 19q13.2 NA NA NA Score=89;Name=1150096_0_-_89 rs284652 0.61 0.61 0.64 0.616414 0.5924 0.4325 0.4885 0.8548 0.5992 0.58 0.46 0.57 0.86 0.5994 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.566035 1.566035 NA 0.607558 0.809805 NA 0.688 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079266.3;CLNDSDB=.;CLNDSDBID=. 6.8673086 965 18 33647254 33647254 A C exonic RPRD1A NA synonymous SNV RPRD1A:NM_018170:exon1:c.T114G:p.R38R exonic ENSG00000141425 NA synonymous SNV ENSG00000141425:ENST00000319040:exon1:c.T114G:p.R38R,ENSG00000141425:ENST00000357384:exon1:c.T114G:p.R38R,ENSG00000141425:ENST00000399022:exon1:c.T114G:p.R38R,ENSG00000141425:ENST00000589050:exon1:c.T114G:p.R38R,ENSG00000141425:ENST00000592674:exon1:c.T114G:p.R38R Score=715;Name=lod=1077 NA 18q12.2 Score=864;Name=V$ATF_01 Name=CEBPB,Pol2,TAF1,c-Myc,NFKB,HEY1,Sin3Ak-20,Pol2-4H8,c-Fos,Pol2(b) Name=101 NA rs1789517 0.95 0.95 0.922 0.936102 0.9274 1 0.9467 0.8631 0.9703 0.94 1 0.96 0.89 0.9407 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.983403 1.983403 NA 0.933093 0.871085 NA 0.884 NA 6.8654736 966 6 26285683 26285683 T C exonic HIST1H4H NA synonymous SNV HIST1H4H:NM_003543:exon1:c.A45G:p.G15G exonic ENSG00000158406 NA synonymous SNV ENSG00000158406:ENST00000289352:exon1:c.A45G:p.G15G,ENSG00000158406:ENST00000377727:exon1:c.A45G:p.G15G Score=479;Name=lod=118 NA 6p22.2 NA Name=GATA-1,TAF1,Pol2(b),SIRT6,p300_(F-4),ELK4,POU2F2,HMGN3,ZBTB33,NELFe,Pol2,GCN5,SP1,Mxi1_(bHLH),TCF4,STAT3,Pol2(phosphoS2),Ini1,Egr-1,Brg1,Sin3Ak-20,HA-E2F1,YY1_(C-20),BCLAF1_(M33-P5B11),BCL11A,TAF7_(SQ-8),ZNF263,GATA3_(SC-268),c-Fos,E2F1,GATA-2,Pol2-4H8,E2F6,Max,c-Myc,STAT1,CCNT2,STAT2,IRF3,NFKB,HEY1,eGFP-GATA2,MafK_(ab50322),Oct-2,p300_(N-15),p300,TCF12,USF-1,TBP,NF-E2,GATA2_(CG2-96),GTF2F1_(RAP-74),IRF1,RXRA,CEBPB,CHD2_(N-1250) Name=148 NA rs2393593 0.77 0.77 0.751 0.790535 0.5785 0.8938 0.7291 0.9266 0.7618 0.57 0.91 0.74 0.93 0.666 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.582933 2.582933 NA 0.559767 0.848616 NA 0.725 NA 6.8623996 966 12 11174276 11174276 G A exonic TAS2R19 NA nonsynonymous SNV TAS2R19:NM_176888:exon1:c.C895T:p.R299C exonic ENSG00000212124 NA nonsynonymous SNV ENSG00000212124:ENST00000390673:exon1:c.C895T:p.R299C NA NA 12p13.2 NA NA NA NA rs10772420 0.5 0.5 0.393 0.34984 0.505 0.1944 0.464 0.3593 0.2566 0.6 0.44 0.53 0.39 0.4654 0.6 0.01 D 0.0 B 0.0 B 1.000 U 1.000 P -0.345 N 5.62 T -1.059 T 0.000 T 0.067 1.974 12.56 -1.99 -0.434 -0.548 5.710 1.974316 1.974316 0 0.501279 0.379029 NA 0.413 NA 6.8616544 966 4 16362524 16362524 G A intergenic TAPT1-AS1,LDB2 dist=102714;dist=140641 NA NA ncRNA_exonic ENSG00000249506 NA NA NA Score=816;Name=lod=2762 NA 4p15.32 NA Name=Pol2,YY1,HA-E2F1,c-Myc Name=4 NA rs11722358 0.16 0.16 0.141 0.16234 0.1392 0.0119 0.1628 0.3124 0.138 0.15 0.01 0.17 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087011 NA NA NA NA NA 0.13 NA 6.8608 966 22 41726053 41726053 G A exonic ZC3H7B NA synonymous SNV ZC3H7B:NM_017590:exon6:c.G471A:p.Q157Q exonic ENSG00000100403 NA synonymous SNV ENSG00000100403:ENST00000351589:exon5:c.G471A:p.Q157Q,ENSG00000100403:ENST00000352645:exon6:c.G471A:p.Q157Q Score=537;Name=lod=203 NA 22q13.2 Score=849;Name=V$AP4_01 NA NA NA rs4822021 0.24 0.24 0.197 0.259185 0.2624 0.0754 0.5447 0.1657 0.3691 0.26 0.08 0.54 0.18 0.2888 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03326 NA NA 0.256163 0.1936 NA 0.297 NA 6.8593036 966 9 140652476 140652476 G T intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA Name=Pol2-4H8,CTCF,Pol2 Name=92 NA rs3125794 0.11 0.11 0.137 0.136981 0.0408 0.001 0.0677 0.4501 0.002 0.04 0.0017 0.06 0.4 0.0622 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241169 NA NA 0.038953 0.39537 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082218.1;CLNDSDB=.;CLNDSDBID=. 6.858047 966 14 73220020 73220020 A G exonic DPF3 NA synonymous SNV DPF3:NM_012074:exon3:c.T253C:p.L85L exonic ENSG00000205683 NA synonymous SNV ENSG00000205683:ENST00000366353:exon3:c.T418C:p.L140L,ENSG00000205683:ENST00000381216:exon3:c.T253C:p.L85L,ENSG00000205683:ENST00000541685:exon3:c.T253C:p.L85L,ENSG00000205683:ENST00000556509:exon3:c.T253C:p.L85L,ENSG00000205683:ENST00000546183:exon4:c.T283C:p.L95L Score=551;Name=lod=231 NA 14q24.2 Score=932;Name=V$CHOP_01 NA NA NA rs3742836 0.21 0.21 0.189 0.223243 0.2744 0.2907 0.2205 0.0764 0.3016 0.26 0.26 0.22 0.09 0.2531 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.444362 1.444362 NA 0.281128 0.105638 NA 0.225 NA 6.8580386 966 16 70190401 70190401 C T exonic PDPR NA synonymous SNV PDPR:NM_017990:exon19:c.C2259T:p.D753D exonic ENSG00000090857 NA synonymous SNV ENSG00000090857:ENST00000563930:exon5:c.C333T:p.D111D,ENSG00000090857:ENST00000567046:exon5:c.C333T:p.D111D,ENSG00000090857:ENST00000569042:exon5:c.C408T:p.D136D,ENSG00000090857:ENST00000542659:exon6:c.C294T:p.D98D,ENSG00000090857:ENST00000398122:exon17:c.C1959T:p.D653D,ENSG00000090857:ENST00000288050:exon19:c.C2259T:p.D753D,ENSG00000090857:ENST00000568530:exon19:c.C2259T:p.D753D Score=500;Name=lod=144 NA 16q22.1 Score=791;Name=V$ER_Q6 NA NA NA rs6499302 0.35 0.35 0.356 NA NA NA NA NA NA 0.42 0.26 0.33 0.37 0.3897 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911857 NA NA 0.418973 0.355024 NA 0.377 NA 6.8579936 966 1 152281007 152281007 A G exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.T6355C:p.Y2119H exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T6355C:p.Y2119H NA NA 1q21.3 NA NA NA NA rs7512553 NA NA 0.215 0.327676 0.1282 0.4355 0.3357 0.3843 0.3395 NA NA NA NA 0.2207 0.33 0.56 T 0.0 B 0.0 B . . 1.000 N -2.42 N 4.33 T -0.997 T 0.001 T 0.012 0.038 4.212 1.28 -0.057 0.121 3.517 0.038141 NA 1 0.126628 0.329324 NA NA NA 6.8578054 966 16 28123226 28123226 G A exonic XPO6 NA synonymous SNV XPO6:NM_015171:exon17:c.C2253T:p.H751H,XPO6:NM_001270940:exon18:c.C2211T:p.H737H exonic ENSG00000169180 NA synonymous SNV ENSG00000169180:ENST00000304658:exon17:c.C2253T:p.H751H,ENSG00000169180:ENST00000565698:exon18:c.C2211T:p.H737H Score=481;Name=lod=120 NA 16p11.2 Score=775;Name=V$PAX5_02 NA NA NA rs205384 0.18 0.18 0.181 0.166334 0.2773 0.1032 0.2363 0.1339 0.1115 0.29 0.06 0.25 0.13 0.2402 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229273 NA NA 0.291519 0.146975 NA 0.21 NA 6.8576476 966 2 71417134 71417134 C T exonic PAIP2B NA synonymous SNV PAIP2B:NM_020459:exon3:c.G156A:p.Q52Q exonic ENSG00000124374 NA synonymous SNV ENSG00000124374:ENST00000244221:exon3:c.G156A:p.Q52Q Score=677;Name=lod=754 NA 2p13.3 Score=769;Name=V$STAT5A_02 NA NA NA rs357776 0.29 0.29 0.299 0.336661 0.2326 0.3343 0.2205 0.3343 0.5317 0.23 0.33 0.24 0.36 0.3179 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90809 NA NA 0.258766 0.31703 NA 0.246 NA 6.8574006 966 12 118473054 118473054 T C exonic WSB2 NA synonymous SNV WSB2:NM_018639:exon7:c.A909G:p.P303P exonic ENSG00000176871 NA synonymous SNV ENSG00000176871:ENST00000542304:exon5:c.A234G:p.P78P,ENSG00000176871:ENST00000544233:exon5:c.A279G:p.P93P,ENSG00000176871:ENST00000535496:exon6:c.A915G:p.P305P,ENSG00000176871:ENST00000315436:exon7:c.A909G:p.P303P,ENSG00000176871:ENST00000441406:exon7:c.A960G:p.P320P NA NA 12q24.23 NA Name=Pol2,Pol2-4H8 Name=35 NA rs9788041 0.35 0.35 0.344 0.380791 0.2366 0.5446 0.3674 0.2905 0.4918 0.24 0.56 0.33 0.28 0.3179 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390155 NA NA 0.255116 0.278938 NA 0.333 NA 6.8570506 966 11 6023818 6023818 G A exonic OR56A4 NA synonymous SNV OR56A4:NM_001005179:exon1:c.C561T:p.Y187Y exonic ENSG00000183389 NA synonymous SNV ENSG00000183389:ENST00000330728:exon1:c.C561T:p.Y187Y Score=259;Name=lod=15 NA 11p15.4 NA NA Name=8 NA rs10839221 0.16 0.16 0.167 0.162141 0.2684 0.0794 0.1945 0.0582 0.2556 0.27 0.08 0.19 0.07 0.2429 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435061 NA NA 0.298534 0.10836 NA 0.094 NA 6.8568326 966 9 69238234 69238234 G T exonic CBWD6 NA nonsynonymous SNV CBWD6:NM_001085457:exon8:c.C658A:p.L220I exonic ENSG00000204790 NA nonsynonymous SNV ENSG00000204790:ENST00000382399:exon7:c.C598A:p.L200I,ENSG00000204790:ENST00000377457:exon8:c.C658A:p.L220I,ENSG00000204790:ENST00000377449:exon9:c.C550A:p.L184I NA NA 9q21.11 NA NA NA NA rs66626885 NA NA 0.389 NA NA NA NA NA NA NA NA NA NA 0.4774 0.022 1 T 0.0 B 0.0 B 0.000 N 0.998 N 0.195 N 0.95 T -1.009 T 0.037 T 0.19 -2.896 0.001 1.16 -0.192 0.096 2.910 -2.895895 NA 1 NA NA NA 0.022 NA 6.8559334 966 1 204970302 204970302 T C exonic NFASC NA synonymous SNV NFASC:NM_001005388:exon26:c.T3024C:p.P1008P exonic ENSG00000163531 NA synonymous SNV ENSG00000163531:ENST00000401399:exon25:c.T3024C:p.P1008P,ENSG00000163531:ENST00000339876:exon26:c.T3024C:p.P1008P,ENSG00000163531:ENST00000367171:exon26:c.T3300C:p.P1100P,ENSG00000163531:ENST00000367170:exon27:c.T3108C:p.P1036P,ENSG00000163531:ENST00000367172:exon28:c.T3345C:p.P1115P NA NA 1q32.1 NA NA NA NA rs4951151 0.21 0.21 0.186 0.230631 0.2575 0.2401 0.1787 0.1573 0.3292 0.26 0.22 0.22 0.13 0.3078 0.26 . . . . . . . . 0.010 P . . . . . . . . . 1.15 9.682 -0.904 -0.204 -1.014 6.876 1.149614 NA NA 0.245533 0.181992 ID=COSM425087;OCCURENCE=1(breast) 0.304 NA 6.8558336 966 1 235459509 235459509 T C intronic ARID4B NA NA NA ncRNA_exonic ENSG00000236863 NA NA NA Score=682;Name=lod=789 NA 1q42.3 NA Name=TCF4,YY1,SP1,HDAC2_(SC-6296),JunD,FOSL2,MafF_(M8194),FOXA1_(C-20),p300,RXRA,FOXA2_(SC-6554),FOXA1_(SC-101058),GR Name=88 NA rs2891015 0.39 0.39 0.372 0.408546 0.4781 0.244 0.4928 0.2965 0.5982 0.49 0.27 0.49 0.31 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613484 NA NA NA NA NA 0.478 NA 6.8552333 967 11 60886913 60886913 C T exonic CD5 NA nonsynonymous SNV CD5:NM_014207:exon5:c.C671T:p.P224L exonic ENSG00000110448 NA nonsynonymous SNV ENSG00000110448:ENST00000347785:exon5:c.C671T:p.P224L NA NA 11q12.2 NA NA NA NA rs2241002 0.16 0.16 0.174 0.171925 0.1491 0.0625 0.1369 0.3064 0.1513 0.12 0.06 0.15 0.34 0.1543 0.34 0.11 T 0.013 B 0.003 B 0.031 N 1.000 P 1.04 L 1.55 T -0.953 T 0.000 T 0.048 1.334 10.38 1.32 0.294 0.782 6.915 1.333753 1.333753 0.07 0.175041 0.277576 NA 0.261 NA 6.8548924 967 20 52675259 52675259 G T UTR5 BCAS1 NM_003657:c.-2C>A NA NA UTR5 ENSG00000064787 ENST00000371440:c.-2C>A,ENST00000395961:c.-2C>A,ENST00000371435:c.-2C>A NA NA Score=412;Name=lod=63 NA 20q13.2 Score=935;Name=V$SOX9_B1 NA Name=5 NA rs2020975 0.15 0.15 0.129 0.146765 0.164 0.3194 0.0634 0.025 0.1748 0.18 0.29 0.06 0.02 0.1533 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043501 NA NA 0.161512 0.041307 NA 0.094 NA 6.8545214 967 6 147830073 147830073 C T exonic SAMD5 NA synonymous SNV SAMD5:NM_001030060:exon1:c.C9T:p.T3T exonic ENSG00000203727 NA synonymous SNV ENSG00000203727:ENST00000367474:exon1:c.C9T:p.T3T Score=707;Name=lod=992 NA 6q24.3 NA NA Name=127 NA rs66812182 0.28 0.28 0.27 0.317492 0.2724 0.2391 0.317 0.3828 0.3569 0.27 0.22 0.29 0.38 0.2832 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.434827 1.434827 NA 0.257093 0.368588 NA 0.022 NA 6.8539736 967 19 54803504 54803504 A C exonic LILRA3 NA nonsynonymous SNV LILRA3:NM_001172654:exon3:c.T320G:p.L107R,LILRA3:NM_006865:exon3:c.T320G:p.L107R exonic ENSG00000170866 NA nonsynonymous SNV ENSG00000170866:ENST00000251390:exon3:c.T320G:p.L107R,ENSG00000170866:ENST00000391744:exon3:c.T320G:p.L107R,ENSG00000170866:ENST00000391745:exon7:c.T371G:p.L124R NA NA 19q13.42 NA NA NA NA rs6509862 0.45 0.45 0.426 0.435503 0.1064 0.4345 0.4337 0.8306 0.2423 0.12 0.63 0.35 0.82 0.2511 0.82 0.14 T 0.0 B 0.005 B . . 1.000 P 0.955 L 5.7 T -1.097 T 0.000 T 0.096 0.03 4.167 -1.55 -0.770 -0.019 4.490 0.029547 NA 0.17 0.122198 0.763902 NA 0.486 NA 6.8536354 967 7 90338850 90338850 C T UTR5 CDK14 NM_012395:c.-6C>T NA NA UTR5 ENSG00000058091 ENST00000265741:c.-6C>T,ENST00000406263:c.-17046C>T NA NA Score=661;Name=lod=646 NA 7q21.13 Score=878;Name=V$OCT1_02 NA Name=7 NA rs11767691 0.12 0.12 0.122 0.135982 0.1561 0.0903 0.0922 0.1573 0.1646 0.15 0.09 0.1 0.14 0.1475 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.960218 1.960218 NA 0.176279 0.167499 NA 0.188 NA 6.8534544 967 1 233785786 233785786 A C intronic KCNK1 NA NA NA exonic ENSG00000135750 NA nonsynonymous SNV ENSG00000135750:ENST00000446915:exon1:c.A100C:p.S34R NA NA 1q42.2 NA NA NA NA rs4649241 0.53 0.53 0.529 0.535743 0.4085 0.5704 0.5922 0.5809 0.5297 0.41 0.63 0.56 0.57 0.4795 0.63 0 D . . . . . . 1.000 P . . 1.33 T -0.960 T 0.000 T 0.193 1.248 10.06 -0.683 -0.612 -0.998 2.043 1.247811 1.247811 0 0.425917 0.555936 NA 0.514 NA 6.8527497 967 17 27613677 27613677 G A exonic NUFIP2 NA synonymous SNV NUFIP2:NM_020772:exon2:c.C1335T:p.P445P exonic ENSG00000108256 NA synonymous SNV ENSG00000108256:ENST00000225388:exon2:c.C1335T:p.P445P Score=635;Name=lod=506 NA 17q11.2 NA NA Name=7 NA rs12452857 0.16 0.16 0.136 0.154153 0.2773 0.0119 0.2839 0.0371 0.2403 0.29 0.01 0.29 0.05 0.2542 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729601 NA NA 0.282907 0.075579 NA 0.21 NA 6.8522596 967 6 127797179 127797179 G A exonic SOGA3 NA synonymous SNV SOGA3:NM_001012279:exon6:c.C1992T:p.A664A exonic ENSG00000214338,ENSG00000255330 NA synonymous SNV ENSG00000214338:ENST00000368268:exon5:c.C1992T:p.A664A,ENSG00000214338:ENST00000465909:exon6:c.C1992T:p.A664A,ENSG00000255330:ENST00000481848:exon6:c.C1992T:p.A664A,ENSG00000214338:ENST00000525778:exon6:c.C1992T:p.A664A,ENSG00000214338:ENST00000556132:exon6:c.C1992T:p.A664A Score=576;Name=lod=291 NA 6q22.33 Score=899;Name=V$ARNT_01 NA NA NA rs3734448 0.37 0.37 0.328 0.374401 0.2406 0.7351 0.4467 0.2035 0.32 0.24 0.73 0.37 0.17 0.3287 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977121 NA NA 0.24615 0.212751 NA 0.29 NA 6.8512166 967 21 47423636 47423636 C T exonic COL6A1 NA synonymous SNV COL6A1:NM_001848:exon35:c.C2796T:p.S932S exonic ENSG00000142156 NA synonymous SNV ENSG00000142156:ENST00000361866:exon35:c.C2796T:p.S932S NA NA 21q22.3 NA NA Name=11 NA rs1053320 0.27 0.27 0.231 0.264177 0.2555 0.1329 0.2752 0.4251 0.183 0.25 0.15 0.28 0.43 0.2715 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123221 NA NA 0.288457 0.402589 ID=COSM444608;OCCURENCE=1(breast) 0.312 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079807.2;CLNDSDB=.;CLNDSDBID=. 6.8512096 967 22 46780521 46780521 T C exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon20:c.A6802G:p.T2268A exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon20:c.A6802G:p.T2268A NA NA 22q13.31 NA NA NA NA rs6007897 0.22 0.22 0.249 0.240815 0.161 0.0139 0.1254 0.6528 0.0818 0.16 0.01 0.13 0.64 0.1671 0.64 0.73 T 0.003 B 0.01 B 0.102 N 1.000 P 0 N -0.23 T -0.934 T 0.000 T 0.04 -1.767 0.01 0.587 -0.268 0.067 6.933 -1.766744 NA 0.85 0.15407 0.578302 NA 0.261 NA 6.8511634 967 11 7817959 7817959 G A exonic OR5P2 NA synonymous SNV OR5P2:NM_153444:exon1:c.C531T:p.F177F exonic ENSG00000183303 NA synonymous SNV ENSG00000183303:ENST00000329434:exon1:c.C531T:p.F177F Score=446;Name=lod=87 NA 11p15.4 Score=814;Name=V$GFI1_01 NA NA NA rs73406603 0.27 0.27 0.258 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 0.257 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.117378 NA NA 0.282386 0.324929 ID=COSM1559362;OCCURENCE=1(central_nervous_system) 0.261 NA 6.8509806 967 19 49519997 49519997 A G intronic LHB NA NA NA intronic ENSG00000104826 NA NA NA NA NA 19q13.33 NA NA NA NA rs4002462 0.5 0.5 0.372 0.569888 0.5825 0.3393 0.6153 0.7383 0.5348 0.5 0.31 0.54 0.68 0.5668 0.68 0 D . . . . . . 1.000 P . . . . -0.960 T 0.000 T . -0.817 0.632 -5.09 -2.107 -0.220 0.286 -0.816857 NA NA NA NA NA 0.391 NA 6.8507 967 11 7818151 7818151 G A exonic OR5P2 NA synonymous SNV OR5P2:NM_153444:exon1:c.C339T:p.A113A exonic ENSG00000183303 NA synonymous SNV ENSG00000183303:ENST00000329434:exon1:c.C339T:p.A113A Score=516;Name=lod=166 NA 11p15.4 NA Name=MafF_(M8194) NA NA rs73406606 0.27 0.27 0.27 0.236621 0.2763 0.128 0.2911 0.348 0.1186 0.29 0.15 0.28 0.37 0.2572 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051477 NA NA 0.282502 0.325808 ID=COSM1559364;OCCURENCE=1(central_nervous_system) 0.261 NA 6.8506646 967 10 43089965 43089965 G A exonic ZNF33B NA nonsynonymous SNV ZNF33B:NM_006955:exon5:c.C433T:p.R145C exonic ENSG00000196693 NA nonsynonymous SNV ENSG00000196693:ENST00000359467:exon5:c.C433T:p.R145C NA NA 10q11.21 NA Name=STAT3,CEBPB Name=52 NA rs210280 0.77 0.77 0.762 0.727037 0.835 0.873 0.7767 0.5348 0.6902 0.84 0.87 0.78 0.53 0.7984 0.87 0.74 T 0.0 B 0.0 B 0.582 N 1.000 P -1.7 N 3.51 T -1.033 T 0.000 T 0.046 -0.968 0.311 -0.499 -0.496 -0.232 3.632 -0.967615 NA 0.07 0.849581 0.622389 NA 0.797 NA 6.8503524 967 13 90014489 90014489 C A intergenic LINC00433,LINC00353 dist=816725;dist=186559 NA NA ncRNA_exonic ENSG00000225530 NA NA NA Score=783;Name=lod=2019 NA 13q31.3 NA Name=CTCF Name=15 NA rs7995618 0.07 0.07 0.057 0.0535144 0.1501 0.002 0.0576 0.0045 0.0706 0.16 0.0035 0.08 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588971 NA NA NA NA NA 0.123 NA 6.8499 967 10 5567366 5567366 G A exonic CALML3 NA synonymous SNV CALML3:NM_005185:exon1:c.G318A:p.L106L exonic ENSG00000178363 NA synonymous SNV ENSG00000178363:ENST00000315238:exon1:c.G318A:p.L106L Score=481;Name=lod=120 NA 10p15.1 Score=855;Name=V$XBP1_01 NA NA NA rs1142825 0.4 0.4 0.393 0.418331 0.2455 0.6091 0.3156 0.5076 0.3517 0.24 0.58 0.3 0.49 0.3255 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876558 NA NA 0.245814 0.469133 NA 0.348 NA 6.8498526 967 19 42213868 42213868 A G exonic CEACAM5 NA nonsynonymous SNV CEACAM5:NM_004363:exon2:c.A334G:p.I112V exonic ENSG00000105388,ENSG00000267881 NA nonsynonymous SNV ENSG00000105388:ENST00000221992:exon2:c.A334G:p.I112V,ENSG00000105388:ENST00000398599:exon2:c.A334G:p.I112V,ENSG00000105388:ENST00000405816:exon2:c.A334G:p.I112V,ENSG00000267881:ENST00000598976:exon2:c.A334G:p.I112V NA NA 19q13.2 NA NA NA NA rs34155934 0.12 0.12 0.106 0.129593 0.1958 NA 0.0865 0.2799 0.0225 0.17 NA 0.09 0.2 0.1374 0.25 1 T 0.03 B 0.088 B . . 1.000 P -2.66 N -0.03 T -0.997 T 0.000 T 0.043 -1.884 0.008 -0.944 0.127 -0.152 3.103 -1.883991 NA 1 0.150465 0.248071 NA 0.21 NA 6.8496684 967 9 140611436 140611436 T C exonic EHMT1 NA synonymous SNV EHMT1:NM_001145527:exon3:c.T444C:p.P148P,EHMT1:NM_024757:exon3:c.T444C:p.P148P exonic ENSG00000181090 NA synonymous SNV ENSG00000181090:ENST00000334856:exon3:c.T351C:p.P117P,ENSG00000181090:ENST00000460843:exon3:c.T444C:p.P148P,ENSG00000181090:ENST00000462484:exon3:c.T444C:p.P148P Score=403;Name=lod=58 NA 9q34.3 NA NA NA NA rs3812497 0.23 0.23 0.18 0.227835 0.2634 0.1429 0.4539 0.0893 0.3057 0.26 0.14 0.46 0.1 0.2791 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520297 1.520297 NA 0.274948 0.11507 NA 0.29 CLINSIG=non-pathogenic|other;CLNDBN=Chromosome_9q_deletion_syndrome|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000055968.1|RCV000082239.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK47079:C0795833:610253:ORPHA261494|. 6.8492186 967 15 42115747 42115747 G C exonic MAPKBP1 NA nonsynonymous SNV MAPKBP1:NM_014994:exon29:c.G3701C:p.R1234P,MAPKBP1:NM_001128608:exon30:c.G3719C:p.R1240P exonic ENSG00000137802 NA nonsynonymous SNV ENSG00000137802:ENST00000221214:exon27:c.G3350C:p.R1117P,ENSG00000137802:ENST00000260357:exon27:c.G3218C:p.R1073P,ENSG00000137802:ENST00000457542:exon29:c.G3701C:p.R1234P,ENSG00000137802:ENST00000456763:exon30:c.G3719C:p.R1240P NA NA 15q15.1 NA NA NA NA rs3959569 0.24 0.24 0.217 0.234026 0.3479 0.1796 0.4121 0.0371 0.3129 0.36 0.16 0.39 0.04 0.3065 0.39 0.24 T 0.459 P 0.28 B 0.639 N 1.000 P 0.55 N 1.32 T -0.963 T 0.000 T 0.043 1.109 9.525 -0.625 -0.686 -0.783 7.306 1.109421 NA 0.15 0.332326 0.094871 NA 0.152 NA 6.8466074 967 16 48164777 48164777 T C exonic ABCC12 NA synonymous SNV ABCC12:NM_033226:exon8:c.A1158G:p.V386V exonic ENSG00000140798 NA synonymous SNV ENSG00000140798:ENST00000534418:exon7:c.A984G:p.V328V,ENSG00000140798:ENST00000311303:exon8:c.A1158G:p.V386V,ENSG00000140798:ENST00000416054:exon8:c.A1158G:p.V386V,ENSG00000140798:ENST00000448542:exon8:c.A1158G:p.V386V,ENSG00000140798:ENST00000497206:exon8:c.A1158G:p.V386V,ENSG00000140798:ENST00000529504:exon8:c.A1158G:p.V386V,ENSG00000140798:ENST00000532494:exon8:c.A1158G:p.V386V,ENSG00000140798:ENST00000529084:exon10:c.A1158G:p.V386V Score=567;Name=lod=269 NA 16q12.1 Score=812;Name=V$BRN2_01 NA NA NA rs12149826 0.12 0.12 0.115 0.120807 0.2714 NA 0.1931 0.0091 0.1902 0.27 NA 0.17 0.02 0.2424 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194795 NA NA 0.306279 0.061336 NA 0.13 NA 6.8465876 967 4 40337523 40337523 C T exonic CHRNA9 NA synonymous SNV CHRNA9:NM_017581:exon1:c.C39T:p.I13I exonic ENSG00000174343 NA synonymous SNV ENSG00000174343:ENST00000310169:exon1:c.C39T:p.I13I Score=488;Name=lod=128 NA 4p14 NA Name=JunD NA NA rs56241474 0.22 0.22 0.226 0.217053 0.2734 0.0496 0.2464 0.2995 0.1994 0.27 0.05 0.28 0.32 0.2425 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258596 1.258596 NA 0.304884 0.287335 ID=COSM1178492;OCCURENCE=1(prostate) 0.239 NA 6.8458826 968 3 16242229 16242229 G A exonic GALNT15 NA synonymous SNV GALNT15:NM_054110:exon3:c.G810A:p.G270G exonic ENSG00000131386 NA nonsynonymous SNV ENSG00000131386:ENST00000430410:exon3:c.G328A:p.G110S Score=474;Name=lod=113 NA 3p25.1 NA NA NA NA rs7638396 0.07 0.07 0.061 0.0930511 0.0427 0.002 0.1138 0.2262 0.044 0.04 0.0017 0.1 0.18 0.0599 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.974979 1.974979 0 0.052558 0.187018 NA 0.08 NA 6.844842 968 20 47261017 47261017 T C exonic PREX1 NA synonymous SNV PREX1:NM_020820:exon27:c.A3531G:p.R1177R exonic ENSG00000124126 NA synonymous SNV ENSG00000124126:ENST00000371941:exon27:c.A3531G:p.R1177R,ENSG00000124126:ENST00000396220:exon27:c.A3531G:p.R1177R Score=497;Name=lod=140 NA 20q13.13 NA NA NA Score=76;Name=1437513_0_+_76 rs6066802 0.3 0.3 0.271 0.320487 0.2624 0.369 0.3559 0.2118 0.4519 0.26 0.4 0.37 0.22 0.299 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.416984 1.416984 NA 0.260698 0.220835 ID=COSM149191;OCCURENCE=1(stomach) 0.297 NA 6.8445686 968 1 36642420 36642420 T C exonic MAP7D1 NA synonymous SNV MAP7D1:NM_018067:exon8:c.T1356C:p.S452S exonic ENSG00000116871 NA synonymous SNV ENSG00000116871:ENST00000316156:exon7:c.T1245C:p.S415S,ENSG00000116871:ENST00000373151:exon8:c.T1356C:p.S452S,ENSG00000116871:ENST00000373150:exon9:c.T1260C:p.S420S NA NA 1p34.3 NA NA NA NA rs475591 0.76 0.76 0.739 0.750399 0.5755 0.9137 0.781 0.8896 0.5521 0.57 0.91 0.75 0.89 0.6682 0.91 . . . . . . . . 1.000 P . . . . -1.025 T 0.000 T . 0.948 8.864 -10.1 -2.763 -7.226 0.718 0.947593 NA NA 0.579727 0.824905 NA 0.696 NA 6.8432396 968 11 17981047 17981047 C T exonic SERGEF NA synonymous SNV SERGEF:NM_012139:exon9:c.G981A:p.S327S exonic ENSG00000129158 NA synonymous SNV ENSG00000129158:ENST00000265965:exon9:c.G981A:p.S327S,ENSG00000129158:ENST00000525422:exon9:c.G981A:p.S327S,ENSG00000129158:ENST00000529728:exon9:c.G639A:p.S213S NA NA 11p15.1 NA NA NA NA rs211146 0.63 0.63 0.67 0.688498 0.6044 0.4881 0.5836 0.9221 0.7403 0.6 0.47 0.58 0.91 0.6106 0.91 . . . . . . . . 1.000 P . . . . -1.040 T 0.000 T . 2.209 13.34 -12.3 -3.475 -4.254 7.626 2.209462 2.209462 NA 0.613091 0.866136 NA 0.761 NA 6.8385756 968 19 52001485 52001485 G A exonic SIGLEC12 NA nonsynonymous SNV SIGLEC12:NM_033329:exon4:c.C838T:p.H280Y,SIGLEC12:NM_053003:exon5:c.C1192T:p.H398Y exonic ENSG00000254521 NA nonsynonymous SNV ENSG00000254521:ENST00000598614:exon4:c.C838T:p.H280Y,ENSG00000254521:ENST00000291707:exon5:c.C1192T:p.H398Y NA NA 19q13.41 NA NA NA NA rs11668530 0.34 0.34 0.292 0.353435 0.498 0.2728 0.513 0.0605 0.5706 0.5 0.25 0.48 0.08 0.479 0.52 0.32 T 0.078 B 0.115 B 0.151 U 1.000 P 0.345 N 2.73 T -0.947 T 0.000 T 0.033 0.193 5.039 1.39 1.076 0.197 6.218 0.192805 NA 1 0.518256 0.143214 NA 0.319 NA 6.8380774 968 6 32610436 32610436 T C exonic HLA-DQA1 NA synonymous SNV HLA-DQA1:NM_002122:exon4:c.T663C:p.C221C exonic ENSG00000196735 NA synonymous SNV ENSG00000196735:ENST00000343139:exon4:c.T663C:p.C221C,ENSG00000196735:ENST00000374949:exon4:c.T663C:p.C221C,ENSG00000196735:ENST00000395363:exon4:c.T663C:p.C221C Score=446;Name=lod=87 NA 6p21.32 Score=785;Name=V$PPARA_01 Name=Pol2-4H8 NA NA rs1048372 0.61 0.61 0.475 0.595248 0.6233 0.6647 0.7406 0.5492 0.454 0.61 0.61 0.74 0.52 0.6248 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887249 NA NA 0.581056 0.550331 NA 0.362 NA 6.8375106 968 7 25266400 25266400 G A exonic NPVF NA synonymous SNV NPVF:NM_022150:exon2:c.C384T:p.P128P exonic ENSG00000105954 NA synonymous SNV ENSG00000105954:ENST00000222674:exon2:c.C384T:p.P128P Score=437;Name=lod=80 NA 7p15.3 Score=880;Name=V$E2F_02 NA NA NA rs2717851 0.28 0.28 0.253 0.278355 0.2773 0.1468 0.3184 0.3722 0.2597 0.27 0.14 0.33 0.41 0.2702 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851353 NA NA 0.28186 0.358829 NA 0.304 NA 6.8373066 968 1 76227022 76227022 A G exonic ACADM NA synonymous SNV ACADM:NM_000016:exon11:c.A1161G:p.V387V,ACADM:NM_001127328:exon11:c.A1173G:p.V391V exonic ENSG00000117054 NA synonymous SNV ENSG00000117054:ENST00000543667:exon8:c.A594G:p.V198V,ENSG00000117054:ENST00000541113:exon10:c.A1053G:p.V351V,ENSG00000117054:ENST00000370841:exon11:c.A1161G:p.V387V,ENSG00000117054:ENST00000420607:exon11:c.A1173G:p.V391V,ENSG00000117054:ENST00000370834:exon12:c.A1260G:p.V420V Score=625;Name=lod=464 NA 1p31.1 NA NA NA NA rs1061337 0.19 0.19 0.176 0.174321 0.3002 0.0228 0.2522 0.1362 0.1973 0.28 0.02 0.28 0.17 0.2333 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824413 NA NA 0.296628 0.158874 NA 0.217 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000077878.1;CLNDSDB=.;CLNDSDBID=. 6.8365386 968 21 15481365 15481365 G T exonic LIPI NA nonsynonymous SNV LIPI:NM_198996:exon10:c.C1395A:p.D465E exonic ENSG00000188992 NA nonsynonymous SNV ENSG00000188992:ENST00000344577:exon10:c.C1395A:p.D465E,ENSG00000188992:ENST00000536861:exon10:c.C1332A:p.D444E NA NA 21q11.2 NA NA NA NA rs7278737 0.5 0.5 0.473 0.51897 0.502 0.5099 0.5403 0.503 0.5521 0.49 0.46 0.55 0.51 0.5009 0.55 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.7 N -2.02 D -0.978 T 0.000 T 0.027 -2.715 0 0.125 -0.228 0.194 3.814 -2.714912 NA 1 0.494301 0.507944 NA 0.449 NA 6.8361324 968 17 78820329 78820329 C T exonic RPTOR NA synonymous SNV RPTOR:NM_001163034:exon11:c.C1269T:p.G423G,RPTOR:NM_020761:exon11:c.C1269T:p.G423G exonic ENSG00000141564 NA synonymous SNV ENSG00000141564:ENST00000537330:exon10:c.C714T:p.G238G,ENSG00000141564:ENST00000306801:exon11:c.C1269T:p.G423G,ENSG00000141564:ENST00000544334:exon11:c.C1269T:p.G423G Score=496;Name=lod=138 NA 17q25.3 NA Name=TCF12,CTCF Name=9 NA rs3751945 0.45 0.45 0.411 0.436701 0.6233 0.4345 0.5317 0.1278 0.5971 0.64 0.42 0.54 0.15 0.5777 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.659871 1.659871 NA 0.629651 0.235588 NA 0.449 NA 6.8360156 968 20 6065731 6065731 T C exonic FERMT1 NA synonymous SNV FERMT1:NM_017671:exon12:c.A1575G:p.K525K exonic ENSG00000101311 NA synonymous SNV ENSG00000101311:ENST00000536936:exon11:c.A804G:p.K268K,ENSG00000101311:ENST00000217289:exon12:c.A1575G:p.K525K Score=507;Name=lod=153 NA 20p12.3 Score=694;Name=V$BRACH_01 NA NA NA rs2232073 0.46 0.46 0.027 0.457069 0.3797 0.6409 0.4784 0.4554 0.3344 0.35 0.64 0.45 0.41 0.3978 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069065 NA NA 0.053953 0.089197 NA NA NA 6.8352136 968 18 9887429 9887429 C T exonic TXNDC2 NA nonsynonymous SNV TXNDC2:NM_001098529:exon2:c.C953T:p.P318L,TXNDC2:NM_032243:exon2:c.C752T:p.P251L exonic ENSG00000168454 NA nonsynonymous SNV ENSG00000168454:ENST00000306084:exon2:c.C953T:p.P318L,ENSG00000168454:ENST00000357775:exon2:c.C752T:p.P251L NA NA 18p11.22 NA NA NA NA rs2240908 0.09 0.09 0.072 0.247604 0.2952 0.1488 0.1787 0.3434 0.2198 0.09 0.08 0.1 0.11 0.0083 0.19 . . 0.003 B 0.012 B 0.235 N 1.000 P 0.97 L 2.33 T -0.979 T 0.000 T 0.031 1.227 9.978 1.67 0.245 -0.321 8.377 1.227431 NA NA 0.194767 0.194773 NA 0.007 NA 6.8350664 969 16 9916204 9916204 C G exonic GRIN2A NA synonymous SNV GRIN2A:NM_001134407:exon10:c.G2085C:p.R695R,GRIN2A:NM_001134408:exon10:c.G2085C:p.R695R,GRIN2A:NM_000833:exon11:c.G2085C:p.R695R exonic ENSG00000183454 NA synonymous SNV ENSG00000183454:ENST00000396575:exon9:c.G2085C:p.R695R,ENSG00000183454:ENST00000535259:exon9:c.G1614C:p.R538R,ENSG00000183454:ENST00000562109:exon9:c.G2085C:p.R695R,ENSG00000183454:ENST00000330684:exon10:c.G2085C:p.R695R,ENSG00000183454:ENST00000404927:exon10:c.G2085C:p.R695R,ENSG00000183454:ENST00000396573:exon11:c.G2085C:p.R695R Score=602;Name=lod=374 NA 16p13.2 NA NA NA NA rs9806806 0.26 0.26 0.27 0.28115 0.2873 0.0794 0.2176 0.5272 0.1953 0.27 0.06 0.25 0.49 0.2648 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.254902 1.254902 NA 0.279884 0.490442 NA 0.377 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117181.2|RCV000125313.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8346826 969 7 100552117 100552117 G T intergenic ACHE,MUC12 dist=58576;dist=60787 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.G868T:p.A290S NA NA 7q22.1 NA NA NA NA rs62483699 NA NA NA 0.000399361 NA NA NA 0.0015 NA NA NA NA NA 0.4996 0.4 1 T 0.917 P 0.292 B . . 0.627 N 0 N 3.2 T -1.066 T 0.008 T 0.16 -0.776 0.743 1.5 1.115 -0.427 3.879 -0.775751 NA 0.67 NA NA NA 0.384 NA 6.8337334 969 19 58806083 58806083 T C exonic ZNF8 NA synonymous SNV ZNF8:NM_021089:exon4:c.T909C:p.H303H exonic ENSG00000083842 NA synonymous SNV ENSG00000083842:ENST00000196548:exon4:c.T909C:p.H303H Score=420;Name=lod=68 NA 19q13.43 NA Name=KAP1,SETDB1 NA NA rs260471 0.36 0.36 0.347 0.376997 0.2445 0.499 0.3271 0.4523 0.3211 0.24 0.51 0.31 0.42 0.3102 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121921 NA NA 0.278372 0.419655 NA 0.29 NA 6.8335946 969 6 78172992 78172992 G A exonic HTR1B NA synonymous SNV HTR1B:NM_000863:exon1:c.C129T:p.S43S exonic ENSG00000135312 NA synonymous SNV ENSG00000135312:ENST00000369947:exon1:c.C129T:p.S43S Score=371;Name=lod=43 NA 6q14.1 Score=888;Name=V$ZID_01 NA NA NA rs6298 0.35 0.35 0.317 0.340655 0.2644 0.5099 0.4049 0.2443 0.3292 0.28 0.54 0.4 0.22 0.3066 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.14441 NA NA 0.262326 0.223786 NA 0.304 NA 6.8333406 969 1 144879375 144879375 T C exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon27:c.A4075G:p.K1359E,ENSG00000178104:ENST00000369356:exon27:c.A4075G:p.K1359E,ENSG00000178104:ENST00000313382:exon30:c.A3943G:p.K1315E,ENSG00000178104:ENST00000369359:exon30:c.A4483G:p.K1495E,ENSG00000178104:ENST00000530740:exon30:c.A4483G:p.K1495E NA NA 1q21.1 NA NA NA NA rs1747958 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.92 T 0.229 B 0.053 B . . 0.788 N 0.695 N 4.9 T -0.976 T 0.001 T 0.065 0.734 7.897 -0.444 0.068 0.385 7.421 0.733504 NA 0.51 NA NA NA 0.5 NA 6.8333334 969 11 31128494 31128494 A G intergenic DCDC5,DCDC1 dist=114261;dist=155677 NA NA exonic ENSG00000170959 NA nonsynonymous SNV ENSG00000170959:ENST00000597505:exon11:c.T1601C:p.I534T Score=385;Name=lod=49 NA 11p13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008719 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.752493 1.752493 0.36 NA NA NA NA NA 6.8333247 969 11 6790106 6790106 T C exonic OR2AG2 NA nonsynonymous SNV OR2AG2:NM_001004490:exon1:c.A83G:p.Y28C exonic ENSG00000188124 NA nonsynonymous SNV ENSG00000188124:ENST00000338569:exon1:c.A83G:p.Y28C Score=309;Name=lod=24 NA 11p15.4 NA NA NA NA rs7102536 0.87 0.87 0.869 0.877196 0.8141 0.9286 0.8415 0.9002 0.8834 0.82 0.93 0.84 0.9 0.8537 0.93 0.32 T 0.0 B 0.0 B 0.001 N 1.000 P 0.55 N 4.01 T -1.036 T 0.000 T 0.064 -0.648 1.145 3.36 0.749 0.488 5.400 -0.648419 NA 0.52 0.832402 0.901636 NA 0.906 NA 6.8331314 969 6 29080349 29080349 A G exonic OR2J3 NA nonsynonymous SNV OR2J3:NM_001005216:exon1:c.A682G:p.I228V exonic ENSG00000204701 NA nonsynonymous SNV ENSG00000204701:ENST00000377169:exon1:c.A682G:p.I228V NA NA 6p22.1 NA NA NA NA rs3130764 0.75 0.75 0.751 0.751597 0.829 0.6071 0.7478 0.7716 0.7965 0.85 0.59 0.74 0.81 0.8204 0.85 1 T . . . . . . 1.000 P . . 8.98 T -1.107 T 0.000 T 0.044 -3.285 0.001 2.78 0.502 -1.126 7.733 -3.285412 NA 1 0.852061 0.80945 NA 0.783 NA 6.8318724 969 8 8234714 8234714 C T exonic SGK223 NA nonsynonymous SNV SGK223:NM_001080826:exon2:c.G1205A:p.R402Q exonic ENSG00000182319 NA nonsynonymous SNV ENSG00000182319:ENST00000330777:exon2:c.G1205A:p.R402Q,ENSG00000182319:ENST00000520004:exon3:c.G1205A:p.R402Q NA NA 8p23.1 NA NA NA NA rs3896980 0.44 0.44 0.42 0.455871 0.3052 0.6409 0.4366 0.3903 0.5225 0.29 0.69 0.4 0.41 0.3924 0.69 0.21 T 0.716 P 0.042 B 0.129 N 1.000 P 1.79 L 0.39 T -0.923 T 0.000 T 0.173 0.936 8.815 1.03 0.644 0.001 0.884 0.936192 NA 0.33 0.304369 0.357743 NA 0.377 NA 6.8313644 969 16 31336888 31336888 C T exonic ITGAM NA nonsynonymous SNV ITGAM:NM_000632:exon21:c.C2573T:p.A858V,ITGAM:NM_001145808:exon21:c.C2576T:p.A859V exonic ENSG00000169896 NA nonsynonymous SNV ENSG00000169896:ENST00000287497:exon21:c.C2573T:p.A858V,ENSG00000169896:ENST00000544665:exon21:c.C2576T:p.A859V NA NA 16p11.2 NA NA NA NA rs1143683 0.12 0.12 0.128 0.16254 0.1809 0.0278 0.1311 0.1906 0.2669 0.18 0.0017 0.13 0.16 0.1627 0.18 0.35 T 0.006 B 0.015 B . . 1.000 P 0.57 N 0.62 T -1.026 T 0.000 T 0.013 0.913 8.716 -1.51 0.007 -0.193 10.869 0.913114 NA 0.16 0.158829 0.17714 NA 0.123 NA 6.8309044 969 5 147480027 147480027 G A exonic SPINK5 NA nonsynonymous SNV SPINK5:NM_001127698:exon13:c.G1103A:p.S368N,SPINK5:NM_001127699:exon13:c.G1103A:p.S368N,SPINK5:NM_006846:exon13:c.G1103A:p.S368N exonic ENSG00000133710 NA nonsynonymous SNV ENSG00000133710:ENST00000256084:exon13:c.G1103A:p.S368N,ENSG00000133710:ENST00000359874:exon13:c.G1103A:p.S368N,ENSG00000133710:ENST00000398454:exon13:c.G1103A:p.S368N,ENSG00000133710:ENST00000508733:exon13:c.G1046A:p.S349N NA NA 5q32 NA NA NA NA rs2303063 0.43 0.43 0.383 0.43151 0.4861 0.4831 0.611 0.1982 0.5102 0.46 0.46 0.59 0.23 0.5057 0.59 0.53 T 0.007 B 0.018 B 0.209 N 1.000 P 0.67 N 3.16 T -1.009 T 0.000 T 0.094 -0.393 2.157 2.35 0.432 0.036 5.960 -0.39314 NA 0.45 0.511012 0.251177 NA 0.362 NA 6.8305214 969 19 35434238 35434238 A G exonic ZNF30 NA nonsynonymous SNV ZNF30:NM_001099437:exon5:c.A371G:p.Q124R,ZNF30:NM_001099438:exon5:c.A371G:p.Q124R,ZNF30:NM_194325:exon5:c.A368G:p.Q123R exonic ENSG00000168661 NA nonsynonymous SNV ENSG00000168661:ENST00000303586:exon5:c.A371G:p.Q124R,ENSG00000168661:ENST00000439785:exon5:c.A371G:p.Q124R,ENSG00000168661:ENST00000601142:exon5:c.A368G:p.Q123R,ENSG00000168661:ENST00000426813:exon6:c.A125G:p.Q42R NA NA 19q13.11 NA NA NA NA rs1811 0.57 0.57 0.566 0.586062 0.5119 0.6032 0.3761 0.6997 0.6401 0.51 0.62 0.44 0.69 0.5174 0.69 0.15 T 0.0 B 0.014 B . . 1.000 P 0 N 1.64 T -1.000 T 0.000 T 0.148 0.267 5.442 -0.504 -0.594 -3.046 6.151 0.266597 NA 0.12 0.474228 0.657067 NA 0.493 NA 6.8298054 969 20 54961463 54961463 T C exonic AURKA NA nonsynonymous SNV AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V exonic ENSG00000087586 NA nonsynonymous SNV ENSG00000087586:ENST00000347343:exon3:c.A169G:p.I57V,ENSG00000087586:ENST00000395907:exon3:c.A169G:p.I57V,ENSG00000087586:ENST00000395913:exon3:c.A169G:p.I57V,ENSG00000087586:ENST00000395915:exon3:c.A169G:p.I57V,ENSG00000087586:ENST00000312783:exon4:c.A169G:p.I57V,ENSG00000087586:ENST00000371356:exon4:c.A169G:p.I57V,ENSG00000087586:ENST00000395911:exon4:c.A169G:p.I57V,ENSG00000087586:ENST00000395914:exon4:c.A169G:p.I57V,ENSG00000087586:ENST00000422322:exon4:c.A169G:p.I57V,ENSG00000087586:ENST00000441357:exon4:c.A169G:p.I57V,ENSG00000087586:ENST00000395909:exon5:c.A169G:p.I57V,ENSG00000087586:ENST00000420474:exon5:c.A169G:p.I57V,ENSG00000087586:ENST00000451915:exon5:c.A169G:p.I57V,ENSG00000087586:ENST00000456249:exon5:c.A169G:p.I57V Score=235;Name=lod=12 NA 20q13.2 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs1047972 0.84 0.84 0.81 0.84984 0.8181 0.877 0.8948 0.8298 0.8497 0.81 0.86 0.9 0.84 0.8482 0.9 1 T 0.0 B 0.001 B 0.023 N 1.000 P . . 2.95 T -0.937 T 0.000 T 0.172 -2.049 0.006 1.97 -0.000 -0.463 6.629 -2.049068 NA 1 0.837558 0.838175 NA 0.877 NA 6.8294754 969 2 160901517 160901517 A G exonic PLA2R1 NA synonymous SNV PLA2R1:NM_001007267:exon2:c.T261C:p.S87S,PLA2R1:NM_001195641:exon2:c.T261C:p.S87S,PLA2R1:NM_007366:exon2:c.T261C:p.S87S exonic ENSG00000153246 NA synonymous SNV ENSG00000153246:ENST00000283243:exon2:c.T261C:p.S87S,ENSG00000153246:ENST00000392771:exon2:c.T261C:p.S87S NA NA 2q24.2 Score=774;Name=V$AHRARNT_02 Name=YY1,CTCF,ELF1_(SC-631) Name=3 NA rs4665143 0.51 0.51 0.454 0.457268 0.6292 0.5992 0.6614 0.1278 0.4346 0.63 0.58 0.61 0.15 0.5737 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11419 NA NA 0.634302 0.21902 NA 0.362 NA 6.8294646 969 14 51237701 51237701 A G exonic NIN NA synonymous SNV NIN:NM_016350:exon11:c.T1128C:p.V376V,NIN:NM_020921:exon11:c.T1128C:p.V376V,NIN:NM_182944:exon11:c.T1128C:p.V376V,NIN:NM_182946:exon11:c.T1128C:p.V376V exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000530997:exon9:c.T1128C:p.V376V,ENSG00000100503:ENST00000382043:exon10:c.T1128C:p.V376V,ENSG00000100503:ENST00000245441:exon11:c.T1128C:p.V376V,ENSG00000100503:ENST00000324330:exon11:c.T1128C:p.V376V,ENSG00000100503:ENST00000382041:exon11:c.T1128C:p.V376V,ENSG00000100503:ENST00000389868:exon11:c.T1128C:p.V376V,ENSG00000100503:ENST00000453196:exon11:c.T1128C:p.V376V,ENSG00000100503:ENST00000453401:exon11:c.T1014C:p.V338V,ENSG00000100503:ENST00000476352:exon11:c.T1128C:p.V376V Score=566;Name=lod=267 NA 14q22.1 NA NA Name=4 NA rs17793018 0.6 0.6 0.552 0.577276 0.6083 0.8403 0.6182 0.2595 0.6748 0.63 0.85 0.62 0.25 0.6207 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.457345 1.457345 NA 0.60907 0.296868 NA 0.551 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117795.2;CLNDSDB=.;CLNDSDBID=. 6.8285966 969 6 32797297 32797297 T C exonic TAP2 NA synonymous SNV TAP2:NM_018833:exon11:c.A1812G:p.G604G exonic ENSG00000204267,ENSG00000250264 NA synonymous SNV ENSG00000204267:ENST00000374897:exon11:c.A1812G:p.G604G,ENSG00000204267:ENST00000374899:exon11:c.A1812G:p.G604G,ENSG00000250264:ENST00000452392:exon11:c.A1812G:p.G604G NA NA 6p21.32 NA Name=ZNF263 Name=3 NA rs241441 0.26 0.26 0.255 0.299121 0.2783 0.3621 0.304 0.1551 0.4468 0.25 0.36 0.27 0.17 0.2978 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512026 NA NA 0.262674 0.184975 NA 0.188 NA 6.8278926 969 11 76372052 76372052 A G exonic LRRC32 NA synonymous SNV LRRC32:NM_001128922:exon3:c.T585C:p.G195G,LRRC32:NM_005512:exon3:c.T585C:p.G195G exonic ENSG00000137507 NA synonymous SNV ENSG00000137507:ENST00000260061:exon3:c.T585C:p.G195G,ENSG00000137507:ENST00000404995:exon3:c.T585C:p.G195G,ENSG00000137507:ENST00000407242:exon3:c.T585C:p.G195G Score=361;Name=lod=39 NA 11q13.5 Score=761;Name=V$PAX5_02 Name=HA-E2F1,ERalpha_a,c-Myc NA NA rs3740779 0.59 0.59 0.612 0.625399 0.6064 0.6349 0.5692 0.6316 0.6667 0.6 0.56 0.58 0.62 0.6115 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.251427 NA NA 0.621738 0.630227 NA 0.71 NA 6.8270286 969 2 231738168 231738168 G A exonic ITM2C NA nonsynonymous SNV ITM2C:NM_001012516:exon2:c.G157A:p.G53S,ITM2C:NM_030926:exon2:c.G157A:p.G53S exonic ENSG00000135916 NA nonsynonymous SNV ENSG00000135916:ENST00000326407:exon2:c.G157A:p.G53S,ENSG00000135916:ENST00000326427:exon2:c.G157A:p.G53S,ENSG00000135916:ENST00000457215:exon3:c.G157A:p.G53S NA NA 2q37.1 NA NA NA NA rs2289235 0.54 0.54 0.497 0.510583 0.503 0.8135 0.5303 0.233 0.5675 0.51 0.82 0.49 0.28 0.5206 0.82 1 T 0.001 B 0.001 B 0.287 N 1.000 P -0.11 N 2.03 T -0.974 T 0.000 T 0.301 -1.673 0.012 -2.61 -0.144 0.093 4.686 -1.673453 NA 0.82 0.482791 0.254653 NA 0.399 NA 6.8269424 969 19 9070225 9070225 G C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C17221G:p.H5741D exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C17221G:p.H5741D NA NA 19p13.2 NA NA NA NA rs1559172 0.81 0.81 0.798 0.813299 0.827 0.8512 0.866 0.7337 0.8303 0.83 0.88 0.86 0.69 0.8281 0.88 0 D 0.0 B 0.0 B . . . . 0 N 2.04 T -1.065 T 0.000 T 0.057 -0.663 1.093 -0.66 -0.438 -1.248 4.313 -0.663347 NA 0.76 0.85139 0.764904 NA 0.775 NA 6.8268434 969 19 971949 971949 G A exonic ARID3A NA nonsynonymous SNV ARID3A:NM_005224:exon9:c.G1666A:p.G556S exonic ENSG00000116017 NA nonsynonymous SNV ENSG00000116017:ENST00000263620:exon9:c.G1666A:p.G556S NA NA 19p13.3 NA NA NA NA rs1051505 0.6 0.6 0.73 0.71865 0.8618 0.5694 0.6124 0.6989 0.8272 0.71 0.46 0.57 0.61 0.7812 0.86 0.33 T 0.0 B 0.0 B 0.513 N 1.000 P 1.1 L 1.17 T -0.998 T 0.000 T 0.039 0.772 8.079 -7.15 -0.954 0.089 3.792 0.772037 NA 0.41 0.864654 0.7608 NA 0.174 NA 6.8256794 969 10 73562744 73562744 G A exonic CDH23 NA synonymous SNV CDH23:NM_001171933:exon7:c.G852A:p.A284A,CDH23:NM_001171934:exon7:c.G852A:p.A284A,CDH23:NM_022124:exon52:c.G7572A:p.A2524A exonic ENSG00000107736 NA synonymous SNV ENSG00000107736:ENST00000398788:exon7:c.G852A:p.A284A,ENSG00000107736:ENST00000224721:exon53:c.G7587A:p.A2529A Score=393;Name=lod=53 NA 10q22.1 NA NA NA NA rs10823849 0.34 0.34 0.311 0.328474 0.2783 0.5298 0.3444 0.2307 0.2935 0.28 0.52 0.29 0.27 0.3019 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224495 NA NA 0.260953 0.223762 ID=COSM146956;OCCURENCE=1(stomach) 0.319 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039270.1|RCV000124206.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8255136 969 2 101644855 101644855 G A exonic TBC1D8 NA synonymous SNV TBC1D8:NM_001102426:exon13:c.C2217T:p.P739P exonic ENSG00000204634 NA synonymous SNV ENSG00000204634:ENST00000376840:exon13:c.C2217T:p.P739P,ENSG00000204634:ENST00000409318:exon13:c.C2262T:p.P754P NA NA 2q11.2 Score=746;Name=V$MYOGNF1_01 Name=Pol2 NA NA rs11683877 0.2 0.2 0.2 0.215256 0.2744 0.1667 0.2853 0.0356 0.3978 0.28 0.18 0.31 0.03 0.2778 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39151 NA NA 0.288985 0.076378 ID=COSM148916;OCCURENCE=1(stomach) 0.138 NA 6.8254816 970 19 9071763 9071763 T A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A15683T:p.N5228I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A15683T:p.N5228I NA NA 19p13.2 NA NA NA NA rs10422567 0.82 0.82 0.811 0.81849 0.827 0.8512 0.8703 0.7549 0.8252 0.83 0.88 0.87 0.72 0.8296 0.88 0 D 0.0 B 0.0 B . . . . 0.345 N 4.24 T -1.092 T 0.000 T 0.023 -0.24 2.842 0.647 -0.215 -3.190 1.508 -0.240313 NA 0.48 0.851736 0.784051 NA 0.79 NA 6.8249974 970 3 97607290 97607290 G A exonic CRYBG3 NA synonymous SNV CRYBG3:NM_153605:exon9:c.G7395A:p.P2465P exonic ENSG00000080200 NA synonymous SNV ENSG00000080200:ENST00000182096:exon6:c.G1551A:p.P517P Score=468;Name=lod=106 NA 3q11.2 Score=844;Name=V$GFI1_01 NA NA NA rs13065340 0.22 0.22 0.182 0.204473 0.2833 0.1637 0.317 0.112 0.2106 0.29 0.14 0.33 0.12 0.2719 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901243 NA NA 0.286747 0.124589 ID=COSM149431;OCCURENCE=1(stomach) 0.246 NA 6.8247196 970 2 179462494 179462494 A G exonic TTN NA synonymous SNV TTN:NM_003319:exon122:c.T30120C:p.H10040H,TTN:NM_133432:exon123:c.T30495C:p.H10165H,TTN:NM_133437:exon123:c.T30696C:p.H10232H,TTN:NM_133378:exon243:c.T49611C:p.H16537H,TTN:NM_001256850:exon244:c.T52392C:p.H17464H,TTN:NM_001267550:exon294:c.T57315C:p.H19105H exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000460472:exon122:c.T30120C:p.H10040H,ENSG00000155657:ENST00000342175:exon123:c.T30696C:p.H10232H,ENSG00000155657:ENST00000359218:exon123:c.T30495C:p.H10165H,ENSG00000155657:ENST00000342992:exon243:c.T49611C:p.H16537H,ENSG00000155657:ENST00000591111:exon244:c.T52392C:p.H17464H,ENSG00000155657:ENST00000589042:exon294:c.T57315C:p.H19105H Score=594;Name=lod=345 NA 2q31.2 NA NA NA NA rs35833641 0.15 0.15 0.129 0.126997 0.3072 0.0387 0.1124 0.0053 0.2076 0.32 0.04 0.15 0.01 0.2349 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112931 NA NA 0.300144 0.052526 NA 0.174 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040390.2|RCV000125830.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8244226 970 1 55524237 55524237 G A exonic PCSK9 NA nonsynonymous SNV PCSK9:NM_174936:exon9:c.G1420A:p.V474I exonic ENSG00000169174 NA nonsynonymous SNV ENSG00000169174:ENST00000302118:exon9:c.G1420A:p.V474I NA NA 1p32.3 NA NA NA NA rs562556 0.85 0.85 0.865 0.86901 0.8211 0.9881 0.8948 0.7746 0.9049 0.81 0.97 0.86 0.78 0.8544 0.97 0.29 T 0.013 B 0.002 B 0.007 N 1.000 P 0.895 L -0.52 T -0.970 T 0.000 T 0.043 1.517 11.02 -8.95 -2.214 -0.834 3.846 1.517087 1.517087 NA 0.833488 0.787108 NA 0.826 NA 6.8243454 970 11 124310622 124310622 A G exonic OR8B8 NA synonymous SNV OR8B8:NM_012378:exon1:c.T360C:p.Y120Y exonic ENSG00000197125 NA synonymous SNV ENSG00000197125:ENST00000328064:exon1:c.T360C:p.Y120Y Score=472;Name=lod=110 NA 11q24.2 NA Name=MafK_(ab50322),eGFP-JunD NA NA rs4296049 0.29 0.29 0.231 0.248403 0.2644 0.5317 0.33 0.0303 0.1769 0.25 0.54 0.35 0.04 0.2875 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904098 NA NA 0.290649 0.068151 NA 0.123 NA 6.8241176 970 2 179440029 179440029 G A exonic TTN NA synonymous SNV TTN:NM_003319:exon154:c.C43635T:p.S14545S,TTN:NM_133432:exon155:c.C44010T:p.S14670S,TTN:NM_133437:exon155:c.C44211T:p.S14737S,TTN:NM_133378:exon275:c.C63126T:p.S21042S,TTN:NM_001256850:exon276:c.C65907T:p.S21969S,TTN:NM_001267550:exon326:c.C70830T:p.S23610S exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000460472:exon154:c.C43635T:p.S14545S,ENSG00000155657:ENST00000342175:exon155:c.C44211T:p.S14737S,ENSG00000155657:ENST00000359218:exon155:c.C44010T:p.S14670S,ENSG00000155657:ENST00000342992:exon275:c.C63126T:p.S21042S,ENSG00000155657:ENST00000591111:exon276:c.C65907T:p.S21969S,ENSG00000155657:ENST00000589042:exon326:c.C70830T:p.S23610S Score=514;Name=lod=164 NA 2q31.2 NA NA NA NA rs12464787 0.16 0.16 0.15 0.146565 0.3052 0.0417 0.1167 0.0779 0.2055 0.32 0.04 0.16 0.07 0.24 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08244 NA NA 0.297474 0.117589 NA 0.196 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040563.2|RCV000125877.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8239926 970 12 110011229 110011229 G T exonic MMAB NA synonymous SNV MMAB:NM_052845:exon1:c.C57A:p.R19R exonic ENSG00000139428 NA synonymous SNV ENSG00000139428:ENST00000420167:exon1:c.C57A:p.R19R,ENSG00000139428:ENST00000503497:exon1:c.C57A:p.R19R,ENSG00000139428:ENST00000537496:exon1:c.C57A:p.R19R,ENSG00000139428:ENST00000540016:exon1:c.C57A:p.R19R,ENSG00000139428:ENST00000541763:exon1:c.C57A:p.R19R,ENSG00000139428:ENST00000544051:exon1:c.C57A:p.R19R,ENSG00000139428:ENST00000545712:exon1:c.C57A:p.R19R NA NA 12q24.11 NA Name=YY1,NANOG_(SC-33759),Pol2-4H8,Sin3Ak-20,HEY1,ZEB1_(SC-25388),c-Myc,CCNT2,TBP,TAF1,E2F6_(H-50),ETS1,HMGN3,POU2F2,Pol2(phosphoS2),Pol2,E2F6,YY1_(C-20),ELF1_(SC-631),Oct-2 Name=114 NA rs10774774 0.29 0.29 0.279 0.284944 0.2853 0.1607 0.2939 0.438 0.1994 0.28 0.15 0.31 0.45 0.2904 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304693 NA NA 0.266993 0.391701 NA NA NA 6.8239736 970 15 42570718 42570718 A G exonic GANC NA nonsynonymous SNV GANC:NM_198141:exon3:c.A131G:p.Q44R exonic ENSG00000214013 NA nonsynonymous SNV ENSG00000214013:ENST00000318010:exon3:c.A131G:p.Q44R,ENSG00000214013:ENST00000440615:exon3:c.A131G:p.Q44R,ENSG00000214013:ENST00000562170:exon4:c.A131G:p.Q44R,ENSG00000214013:ENST00000562859:exon4:c.A131G:p.Q44R,ENSG00000214013:ENST00000566442:exon4:c.A131G:p.Q44R Score=346;Name=lod=34 NA 15q15.1 NA NA NA NA rs8024732 0.73 0.73 0.707 0.644369 0.8668 0.8423 0.6254 0.3396 0.637 0.88 0.87 0.68 0.38 0.7816 0.88 1 T 0.0 B 0.001 B 0.024 N 0.766 P -0.64 N 2.32 T -0.981 T 0.000 T 0.149 -1.652 0.012 -2.85 -0.763 -0.262 10.972 -1.65202 NA 0.78 0.861363 0.436904 NA 0.703 NA 6.8235704 970 4 155219318 155219318 C T exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_017639:exon18:c.G4783A:p.E1595K exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000357232:exon18:c.G4783A:p.E1595K NA NA 4q31.3 NA NA NA NA rs28561984 NA NA 0.09 0.133786 0.172 0.1528 0.1037 0.0295 0.2372 NA NA NA NA 0.1599 0.18 0.83 T 0.003 B 0.001 B 0.817 N 1.000 N 0.625 N 0.13 T -1.096 T 0.000 T 0.043 1.061 9.333 0.139 -0.142 0.438 3.095 1.060925 NA 0.77 0.178023 0.066273 NA 0.087 NA 6.8234104 970 6 31506801 31506801 G A ncRNA_intronic ATP6V1G2-DDX39B NA NA NA exonic ENSG00000198563 NA synonymous SNV ENSG00000198563:ENST00000449074:exon4:c.C375T:p.N125N NA NA 6p21.33 NA Name=USF1_(SC-8983) Name=10 NA rs2523512 0.17 0.17 0.175 0.171126 0.16 0.1647 0.1556 0.1437 0.2372 0.17 0.16 0.18 0.16 0.1841 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34353 NA NA NA NA NA 0.203 NA 6.8225666 970 19 53612745 53612745 T C exonic ZNF415 NA nonsynonymous SNV ZNF415:NM_001136038:exon4:c.A553G:p.I185V,ZNF415:NM_001164309:exon4:c.A553G:p.I185V,ZNF415:NM_018355:exon4:c.A553G:p.I185V exonic ENSG00000170954 NA nonsynonymous SNV ENSG00000170954:ENST00000243643:exon4:c.A553G:p.I185V,ENSG00000170954:ENST00000500065:exon4:c.A553G:p.I185V,ENSG00000170954:ENST00000421033:exon5:c.A589G:p.I197V,ENSG00000170954:ENST00000440291:exon5:c.A514G:p.I172V,ENSG00000170954:ENST00000448501:exon6:c.A697G:p.I233V,ENSG00000170954:ENST00000455735:exon7:c.A697G:p.I233V NA NA 19q13.42 NA NA NA NA rs1133327 0.55 0.55 0.526 0.544928 0.497 0.6131 0.647 0.4856 0.5317 0.5 0.6 0.65 0.51 0.5247 0.65 0.27 T 0.007 B 0.004 B . . 1.000 P -0.97 N 3.26 T -1.062 T 0.000 T 0.045 -0.956 0.331 1.68 0.075 -1.787 5.293 -0.95623 NA 0.43 0.48907 0.502951 NA 0.543 NA 6.8225634 970 7 99747130 99747130 G A exonic LAMTOR4 NA synonymous SNV LAMTOR4:NM_001008395:exon2:c.G12A:p.A4A exonic ENSG00000188186 NA synonymous SNV ENSG00000188186:ENST00000341942:exon2:c.G12A:p.A4A,ENSG00000188186:ENST00000441173:exon2:c.G12A:p.A4A Score=502;Name=lod=146 NA 7q22.1 NA Name=ZEB1_(SC-25388),Pol2 Name=14 NA rs12878 0.58 0.58 0.604 0.597045 0.6312 0.6815 0.4899 0.5303 0.6411 0.63 0.65 0.5 0.48 0.5952 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.019363 2.019363 NA 0.618256 0.573763 NA 0.558 NA 6.8220106 970 7 157985149 157985149 C G exonic PTPRN2 NA nonsynonymous SNV PTPRN2:NM_130842:exon4:c.G368C:p.S123T,PTPRN2:NM_002847:exon5:c.G419C:p.S140T,PTPRN2:NM_130843:exon5:c.G419C:p.S140T exonic ENSG00000155093 NA nonsynonymous SNV ENSG00000155093:ENST00000389416:exon4:c.G368C:p.S123T,ENSG00000155093:ENST00000409483:exon4:c.G305C:p.S102T,ENSG00000155093:ENST00000389413:exon5:c.G419C:p.S140T,ENSG00000155093:ENST00000389418:exon5:c.G419C:p.S140T,ENSG00000155093:ENST00000404321:exon5:c.G488C:p.S163T NA NA 7q36.3 NA NA NA NA rs3800855 0.23 0.23 0.217 0.244409 0.169 0.1944 0.1945 0.3752 0.2321 0.17 0.22 0.18 0.38 0.1937 0.38 0.62 T 0.001 B 0.004 B . . 1.000 P 0.895 L 3.97 T -0.943 T 0.000 T 0.072 0.197 5.064 1.36 0.488 -0.673 3.804 0.197429 NA 0.15 0.148837 0.342261 NA 0.203 NA 6.8217964 970 6 17831419 17831419 G A exonic KIF13A NA synonymous SNV KIF13A:NM_001105566:exon13:c.C1314T:p.S438S,KIF13A:NM_001105567:exon13:c.C1314T:p.S438S,KIF13A:NM_001105568:exon13:c.C1314T:p.S438S,KIF13A:NM_022113:exon13:c.C1314T:p.S438S exonic ENSG00000137177 NA synonymous SNV ENSG00000137177:ENST00000259711:exon13:c.C1314T:p.S438S,ENSG00000137177:ENST00000378814:exon13:c.C1314T:p.S438S,ENSG00000137177:ENST00000378816:exon13:c.C1314T:p.S438S,ENSG00000137177:ENST00000378826:exon13:c.C1314T:p.S438S,ENSG00000137177:ENST00000378843:exon13:c.C1314T:p.S438S NA NA 6p22.3 Score=703;Name=V$BRACH_01 Name=c-Fos,GATA-2 NA NA rs2277080 0.21 0.21 0.21 0.239417 0.2803 0.2004 0.1758 0.1566 0.3947 0.28 0.15 0.19 0.16 0.274 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794871 NA NA 0.290577 0.169826 NA 0.283 NA 6.8217896 970 1 15792426 15792426 C G intronic CELA2A NA NA NA intronic ENSG00000142615 NA NA NA NA Name=Erectile dysfunction and prostate cancer treatment 1p36.21 NA Name=USF-1,PU.1,CEBPB,USF1_(SC-8983) Name=8 NA rs2901964 0.29 0.29 0.32 0.307308 0.1799 0.0714 0.2133 0.7186 0.1922 0.18 0.08 0.27 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.07303 NA NA NA NA NA 0.268 NA 6.8201 970 11 86267678 86267678 G A exonic ME3 NA synonymous SNV ME3:NM_001014811:exon3:c.C384T:p.D128D,ME3:NM_001161586:exon4:c.C384T:p.D128D,ME3:NM_006680:exon4:c.C384T:p.D128D exonic ENSG00000151376 NA synonymous SNV ENSG00000151376:ENST00000323418:exon2:c.C198T:p.D66D,ENSG00000151376:ENST00000393324:exon3:c.C384T:p.D128D,ENSG00000151376:ENST00000359636:exon4:c.C384T:p.D128D,ENSG00000151376:ENST00000524826:exon4:c.C384T:p.D128D,ENSG00000151376:ENST00000526504:exon4:c.C384T:p.D128D,ENSG00000151376:ENST00000530335:exon4:c.C384T:p.D128D,ENSG00000151376:ENST00000543262:exon4:c.C384T:p.D128D Score=531;Name=lod=192 NA 11q14.2 Score=887;Name=V$ATF6_01 NA NA NA rs4943943 0.16 0.16 0.156 0.148562 0.2873 0.0496 0.1974 0.0416 0.2178 0.3 0.05 0.21 0.04 0.2479 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564607 NA NA 0.313096 0.086966 NA 0.283 NA 6.8183706 970 1 59148118 59148118 A T exonic MYSM1 NA nonsynonymous SNV MYSM1:NM_001085487:exon8:c.T598A:p.C200S exonic ENSG00000162601 NA nonsynonymous SNV ENSG00000162601:ENST00000472487:exon8:c.T598A:p.C200S NA NA 1p32.1 NA NA NA NA rs17118103 0.14 0.14 0.115 0.155751 0.1859 0.2143 0.1527 0.0076 0.2669 0.19 0.19 0.14 0.01 0.1787 0.19 0.78 T 0.0 B 0.0 B 0.577 N 1.000 P 0.345 N 2.12 T -0.987 T 0.000 T 0.016 0.565 7.056 0.157 0.099 -0.148 1.230 0.565341 NA NA 0.150536 0.031051 ID=COSM146528;OCCURENCE=1(stomach) 0.065 NA 6.8181974 970 20 33703607 33703607 C T exonic EDEM2 NA nonsynonymous SNV EDEM2:NM_001145025:exon10:c.G1255A:p.A419T,EDEM2:NM_018217:exon11:c.G1366A:p.A456T exonic ENSG00000088298 NA nonsynonymous SNV ENSG00000088298:ENST00000542871:exon9:c.G538A:p.A180T,ENSG00000088298:ENST00000374491:exon10:c.G1255A:p.A419T,ENSG00000088298:ENST00000541621:exon10:c.G703A:p.A235T,ENSG00000088298:ENST00000374492:exon11:c.G1366A:p.A456T NA NA 20q11.22 NA NA NA NA rs3746429 0.12 0.12 0.112 0.113818 0.1799 0.0952 0.1052 0.0045 0.2188 0.19 0.11 0.11 0.01 0.1585 0.19 0.56 T 0.002 B 0.003 B 0.086 N 1.000 P -0.345 N 2.01 T -1.045 T 0.000 T 0.055 -0.755 0.803 -0.269 -0.384 0.203 2.710 -0.754627 NA 0.47 0.17686 0.033818 NA 0.181 NA 6.8180734 970 16 9943666 9943666 C T exonic GRIN2A NA synonymous SNV GRIN2A:NM_001134407:exon5:c.G1275A:p.L425L,GRIN2A:NM_001134408:exon5:c.G1275A:p.L425L,GRIN2A:NM_000833:exon6:c.G1275A:p.L425L exonic ENSG00000183454 NA synonymous SNV ENSG00000183454:ENST00000396575:exon4:c.G1275A:p.L425L,ENSG00000183454:ENST00000535259:exon4:c.G804A:p.L268L,ENSG00000183454:ENST00000562109:exon4:c.G1275A:p.L425L,ENSG00000183454:ENST00000330684:exon5:c.G1275A:p.L425L,ENSG00000183454:ENST00000404927:exon5:c.G1275A:p.L425L,ENSG00000183454:ENST00000396573:exon6:c.G1275A:p.L425L Score=514;Name=lod=164 NA 16p13.2 NA NA NA NA rs2229193 0.22 0.22 0.212 0.225839 0.2992 0.0754 0.2089 0.2988 0.2188 0.29 0.06 0.25 0.26 0.2542 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.405173 1.405173 NA 0.295698 0.298134 NA 0.304 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117179.2;CLNDSDB=.;CLNDSDBID=. 6.8175686 970 21 43510514 43510514 C G exonic UMODL1 NA synonymous SNV UMODL1:NM_001004416:exon6:c.C897G:p.A299A,UMODL1:NM_001199527:exon6:c.C681G:p.A227A,UMODL1:NM_001199528:exon6:c.C681G:p.A227A,UMODL1:NM_173568:exon6:c.C897G:p.A299A exonic ENSG00000177398 NA synonymous SNV ENSG00000177398:ENST00000400424:exon6:c.C681G:p.A227A,ENSG00000177398:ENST00000400427:exon6:c.C681G:p.A227A,ENSG00000177398:ENST00000408910:exon6:c.C897G:p.A299A,ENSG00000177398:ENST00000408989:exon6:c.C897G:p.A299A NA NA 21q22.3 NA NA NA NA rs2839464 0.26 0.26 0.278 0.285343 0.2833 0.1022 0.2046 0.4576 0.3006 0.26 0.11 0.23 0.46 0.2741 0.46 . . . . . . . . 1.000 P . . . . -0.910 T 0.000 T . -0.412 2.076 -2.29 -0.242 -0.303 0.645 -0.411831 NA 0.95 0.291845 0.429631 NA 0.152 NA 6.8174216 970 21 43896143 43896143 C T exonic RSPH1 NA nonsynonymous SNV RSPH1:NM_080860:exon8:c.G742A:p.G248R exonic ENSG00000160188 NA nonsynonymous SNV ENSG00000160188:ENST00000398352:exon7:c.G628A:p.G210R,ENSG00000160188:ENST00000291536:exon8:c.G742A:p.G248R NA NA 21q22.3 NA NA NA NA rs117385282 0.09 0.09 0.078 0.0838658 0.171 0.0109 0.1254 0.0076 0.1431 0.17 0.01 0.14 0.01 0.1549 0.19 0.57 T 0.003 B 0.001 B 0.213 N 1.000 P 0.69 N 0.29 T -1.069 T 0.000 T 0.03 -0.446 1.93 -0.712 -0.152 -0.695 2.818 -0.446146 NA 0.5 0.191512 0.036087 ID=COSM149236;OCCURENCE=1(stomach) 0.08 NA 6.8159214 970 15 65553246 65553246 C T exonic PARP16 NA synonymous SNV PARP16:NM_017851:exon5:c.G810A:p.V270V exonic ENSG00000138617 NA synonymous SNV ENSG00000138617:ENST00000444347:exon3:c.G465A:p.V155V,ENSG00000138617:ENST00000261888:exon5:c.G810A:p.V270V Score=616;Name=lod=424 NA 15q22.31 Score=756;Name=V$STAT1_01 NA NA NA rs2304896 0.26 0.26 0.251 0.230631 0.2714 0.125 0.4049 0.2572 0.138 0.29 0.15 0.34 0.27 0.2816 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.247667 1.247667 NA 0.298558 0.260109 NA 0.319 NA 6.8151086 971 11 5537045 5537045 T G exonic UBQLNL NA synonymous SNV UBQLNL:NM_145053:exon1:c.A627C:p.P209P exonic ENSG00000175518 NA synonymous SNV ENSG00000175518:ENST00000380184:exon1:c.A627C:p.P209P Score=493;Name=lod=134 NA 11p15.4 Score=927;Name=V$HSF2_01 NA NA NA rs872751 0.34 0.34 0.314 0.321086 0.2644 0.375 0.3487 0.3472 0.2689 0.28 0.41 0.31 0.37 0.3133 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.172276 NA NA 0.275076 0.337119 NA 0.304 NA 6.8138906 971 6 155597147 155597147 C T exonic CLDN20 NA synonymous SNV CLDN20:NM_001001346:exon2:c.C294T:p.S98S exonic ENSG00000171217 NA synonymous SNV ENSG00000171217:ENST00000367165:exon2:c.C294T:p.S98S NA NA 6q25.3 Score=835;Name=V$OCT1_Q6 NA Name=39 NA rs1555774 0.4 0.4 0.378 0.397963 0.2535 0.6528 0.5159 0.2572 0.3906 0.26 0.67 0.46 0.24 0.333 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675497 NA NA 0.266279 0.27054 NA 0.283 NA 6.8138876 971 12 48920073 48920073 G A exonic OR8S1 NA nonsynonymous SNV OR8S1:NM_001005203:exon1:c.G659A:p.R220H exonic ENSG00000197376 NA nonsynonymous SNV ENSG00000197376:ENST00000310194:exon1:c.G659A:p.R220H NA NA 12q13.11 NA NA NA NA rs61941963 0.09 0.09 0.095 0.0692891 0.2018 0.0288 0.1066 0.0106 0.0276 0.19 0.03 0.1 0.02 0.1232 0.2 0.1 T 0.052 B 0.052 B 0.725 N 1.000 P 0.71 N 8.72 T -1.047 T 0.000 T 0.077 -0.998 0.263 -0.583 -0.298 -0.918 0.179 -0.998124 NA 0.59 0.195116 0.041761 NA 0.094 NA 6.8132174 971 9 304769 304769 G A intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 Score=899;Name=V$TGIF_01 Name=Pol2,FOXA1_(C-20),STAT3 Name=38 NA rs13292474 0.09 0.09 0.09 0.0952476 0.1869 0.0099 0.1009 0.031 0.1718 0.18 NA 0.09 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319595 NA NA NA NA NA 0.109 NA 6.8131 971 4 47560002 47560002 C A exonic ATP10D NA nonsynonymous SNV ATP10D:NM_020453:exon12:c.C2146A:p.P716T exonic ENSG00000145246 NA nonsynonymous SNV ENSG00000145246:ENST00000273859:exon12:c.C2146A:p.P716T NA NA 4p12 NA NA NA NA rs34208443 0.1 0.1 0.089 0.0772764 0.1909 0.0079 0.0879 0.0272 0.092 0.2 0.01 0.12 0.03 0.1412 0.2 0.68 T 0.019 B 0.016 B 0.210 N 1.000 P 0.755 N 1.16 T -1.018 T 0.000 T 0.048 0.641 7.444 0.389 0.374 -0.414 0.865 0.641307 NA 0.3 0.18907 0.051067 NA 0.051 NA 6.8121634 971 2 37406644 37406644 A G exonic SULT6B1 NA synonymous SNV SULT6B1:NM_001032377:exon4:c.T372C:p.Y124Y exonic ENSG00000138068 NA synonymous SNV ENSG00000138068:ENST00000260637:exon4:c.T372C:p.Y124Y,ENSG00000138068:ENST00000535679:exon4:c.T486C:p.Y162Y,ENSG00000138068:ENST00000407963:exon5:c.T372C:p.Y124Y Score=522;Name=lod=176 NA 2p22.2 Score=791;Name=V$BACH1_01 NA NA NA rs10182091 0.41 0.41 0.393 0.42492 0.2565 0.8006 0.4207 0.2322 0.4744 0.27 0.79 0.38 0.21 0.3481 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421387 NA NA 0.250814 0.249887 NA 0.413 NA 6.8112526 971 1 153004853 153004853 C T exonic SPRR1B NA nonsynonymous SNV SPRR1B:NM_003125:exon2:c.C32T:p.T11I exonic ENSG00000169469 NA nonsynonymous SNV ENSG00000169469:ENST00000392661:exon1:c.C32T:p.T11I,ENSG00000169469:ENST00000307098:exon2:c.C32T:p.T11I NA NA 1q21.3 NA Name=PAX5-N19 NA NA rs3795382 0.52 0.52 0.48 0.49401 0.5099 0.5913 0.4251 0.4402 0.499 0.51 0.62 0.46 0.46 0.5025 0.62 0.37 T 0.0 B 0.001 B . . 1.000 P . . 2.62 T -0.911 T 0.007 T 0.107 -0.558 1.477 -0.059 -0.338 -0.240 8.066 -0.558376 NA 0.55 0.510698 0.46936 ID=COSM1180658;OCCURENCE=1(upper_aerodigestive_tract) 0.449 NA 6.8102354 971 1 209811886 209811886 T G exonic LAMB3 NA synonymous SNV LAMB3:NM_001017402:exon3:c.A291C:p.S97S,LAMB3:NM_000228:exon4:c.A291C:p.S97S,LAMB3:NM_001127641:exon4:c.A291C:p.S97S exonic ENSG00000196878 NA synonymous SNV ENSG00000196878:ENST00000391911:exon3:c.A291C:p.S97S,ENSG00000196878:ENST00000356082:exon4:c.A291C:p.S97S,ENSG00000196878:ENST00000367030:exon4:c.A291C:p.S97S,ENSG00000196878:ENST00000415782:exon4:c.A291C:p.S97S Score=483;Name=lod=122 NA 1q32.2 Score=882;Name=V$YY1_01 Name=Pol2(b) NA NA rs2076356 0.48 0.48 0.467 0.432508 0.6412 0.2847 0.4582 0.3517 0.4611 0.65 0.3 0.54 0.38 0.5709 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141044 NA NA 0.646047 0.435089 ID=COSM146753;OCCURENCE=1(stomach) 0.341 NA 6.8085196 971 7 6370305 6370305 C G exonic FAM220A NA nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G481C:p.V161L exonic ENSG00000178397 NA nonsynonymous SNV ENSG00000178397:ENST00000313324:exon2:c.G481C:p.V161L NA NA 7p22.1 NA NA NA NA rs3750039 0.68 0.68 0.66 0.722444 0.4573 0.8829 0.6571 0.8631 0.6861 0.45 0.88 0.63 0.83 0.5907 0.88 1 T 0.0 B 0.0 B 0.817 N 1.000 P -1.1 N 3.42 T -1.000 T 0.000 T 0.013 -0.361 2.298 -3.78 -0.771 -0.039 3.879 -0.360916 NA 1 0.476971 0.811621 NA 0.674 NA 6.8083624 971 22 50944128 50944128 G A exonic LMF2 NA synonymous SNV LMF2:NM_033200:exon6:c.C891T:p.H297H exonic ENSG00000100258 NA synonymous SNV ENSG00000100258:ENST00000216080:exon6:c.C816T:p.H272H,ENSG00000100258:ENST00000380796:exon6:c.C891T:p.H297H,ENSG00000100258:ENST00000474879:exon6:c.C891T:p.H297H NA NA 22q13.33 NA NA NA NA rs743615 0.29 0.29 0.293 0.345847 0.2604 0.3909 0.3357 0.2859 0.4755 0.25 0.38 0.3 0.26 0.3093 0.39 . . . . . . . . 1.000 P . . . . -0.962 T 0.000 T . -1.369 0.026 -5.84 -0.874 -0.487 7.599 -1.368851 NA NA 0.289767 0.303044 NA 0.341 NA 6.8071996 971 1 165218679 165218679 C T exonic LMX1A NA synonymous SNV LMX1A:NM_001174069:exon4:c.G462A:p.L154L,LMX1A:NM_177398:exon4:c.G462A:p.L154L exonic ENSG00000162761 NA synonymous SNV ENSG00000162761:ENST00000367893:exon3:c.G462A:p.L154L,ENSG00000162761:ENST00000294816:exon4:c.G462A:p.L154L,ENSG00000162761:ENST00000342310:exon4:c.G462A:p.L154L Score=603;Name=lod=375 NA 1q23.3 NA NA Name=3 NA rs9970062 0.24 0.24 0.242 0.216853 0.3181 0.0823 0.2032 0.2867 0.1667 0.32 0.1 0.22 0.31 0.2455 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146199 NA NA 0.29686 0.298003 NA 0.304 NA 6.8062066 971 4 183664522 183664522 T C exonic TENM3 NA synonymous SNV TENM3:NM_001080477:exon18:c.T3579C:p.Y1193Y exonic ENSG00000218336 NA synonymous SNV ENSG00000218336:ENST00000406950:exon18:c.T3579C:p.Y1193Y,ENSG00000218336:ENST00000511685:exon19:c.T3579C:p.Y1193Y Score=571;Name=lod=278 NA 4q35.1 Score=843;Name=V$TST1_01 NA NA NA rs7654255 0.25 0.25 0.255 0.233027 0.3012 0.1359 0.1412 0.3472 0.1738 0.32 0.12 0.17 0.33 0.2631 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51646 NA NA 0.296577 0.32341 NA 0.406 NA 6.8057896 971 7 99474427 99474427 A G exonic OR2AE1 NA nonsynonymous SNV OR2AE1:NM_001005276:exon1:c.T230C:p.I77T exonic ENSG00000244623 NA nonsynonymous SNV ENSG00000244623:ENST00000316368:exon1:c.T230C:p.I77T NA NA 7q22.1 NA Name=PU.1,ELF1_(SC-631),Rad21,CTCF,GATA-2,eGFP-GATA2,GATA2_(CG2-96) NA NA rs2572023 0.53 0.53 0.539 0.555312 0.4851 0.2907 0.4251 0.9107 0.5123 0.5 0.26 0.47 0.92 0.5205 0.92 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.19 N 5.28 T -1.004 T 0.000 T 0.018 -3.11 0.001 0.807 -0.055 -0.121 7.169 -3.109683 NA 1 0.521977 0.836813 NA 0.572 NA 6.8057564 971 7 151573580 151573580 G A intronic PRKAG2 NA NA NA intronic ENSG00000106617 NA NA NA NA NA 7q36.1 NA Name=HA-E2F1 Name=100 NA rs77902041 0.03 0.03 0.03 0.0277556 0.0676 NA 0.0418 0.0008 0.0419 0.06 NA 0.05 NA 0.0501 0.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.923462 1.923462 NA 0.07686 0.012483 NA 0.007 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038907.1|RCV000127612.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.80544 971 17 48545596 48545596 G A exonic CHAD NA synonymous SNV CHAD:NM_001267:exon1:c.C579T:p.D193D exonic ENSG00000136457 NA synonymous SNV ENSG00000136457:ENST00000258969:exon1:c.C579T:p.D193D,ENSG00000136457:ENST00000508540:exon1:c.C579T:p.D193D NA NA 17q21.33 Score=878;Name=V$ATF6_01 NA Name=7 NA rs34864120 0.22 0.22 0.186 0.188698 0.2992 0.1419 0.2536 0.0946 0.2045 0.29 0.15 0.31 0.14 0.2585 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319379 NA NA 0.303605 0.13754 NA 0.109 NA 6.8053616 971 12 4705317 4705317 C T exonic DYRK4 NA synonymous SNV DYRK4:NM_003845:exon5:c.C285T:p.V95V exonic ENSG00000010219 NA synonymous SNV ENSG00000010219:ENST00000010132:exon4:c.C285T:p.V95V,ENSG00000010219:ENST00000543431:exon4:c.C285T:p.V95V,ENSG00000010219:ENST00000540757:exon5:c.C285T:p.V95V,ENSG00000010219:ENST00000542744:exon7:c.C630T:p.V210V Score=648;Name=lod=574 NA 12p13.32 Score=935;Name=V$TCF11_01 NA NA NA rs3741925 0.26 0.26 0.234 0.236222 0.2992 0.3135 0.2867 0.1044 0.2342 0.31 0.31 0.27 0.13 0.2787 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.097355 2.097355 NA 0.283721 0.117567 NA 0.319 NA 6.8050456 972 20 16486698 16486698 G A exonic KIF16B NA synonymous SNV KIF16B:NM_001199865:exon8:c.C837T:p.L279L,KIF16B:NM_001199866:exon8:c.C837T:p.L279L,KIF16B:NM_024704:exon8:c.C837T:p.L279L exonic ENSG00000089177 NA synonymous SNV ENSG00000089177:ENST00000354981:exon8:c.C837T:p.L279L,ENSG00000089177:ENST00000355755:exon8:c.C837T:p.L279L,ENSG00000089177:ENST00000408042:exon8:c.C837T:p.L279L Score=613;Name=lod=415 NA 20p12.1 NA NA Name=9 NA rs2295115 0.25 0.25 0.241 0.240815 0.2843 0.38 0.2839 0.0582 0.2689 0.28 0.36 0.28 0.05 0.2717 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.346533 1.346533 NA 0.30686 0.103949 NA 0.188 NA 6.8038066 972 20 25011423 25011423 T C exonic ACSS1 NA synonymous SNV ACSS1:NM_001252676:exon2:c.A240G:p.A80A,ACSS1:NM_001252675:exon3:c.A603G:p.A201A,ACSS1:NM_001252677:exon3:c.A603G:p.A201A,ACSS1:NM_032501:exon3:c.A603G:p.A201A exonic ENSG00000154930 NA synonymous SNV ENSG00000154930:ENST00000537502:exon1:c.A354G:p.A118A,ENSG00000154930:ENST00000542618:exon2:c.A240G:p.A80A,ENSG00000154930:ENST00000323482:exon3:c.A603G:p.A201A,ENSG00000154930:ENST00000432802:exon3:c.A603G:p.A201A NA NA 20p11.21 Score=786;Name=V$TCF11MAFG_01 Name=NRSF NA NA rs6050259 0.23 0.23 0.207 0.222644 0.3072 0.0873 0.2305 0.2806 0.1912 0.29 0.1 0.26 0.25 0.2465 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646236 NA NA 0.309651 0.297095 NA 0.174 NA 6.8033156 972 9 135985796 135985796 C T exonic RALGDS NA synonymous SNV RALGDS:NM_001042368:exon3:c.G210A:p.V70V,RALGDS:NM_001271774:exon3:c.G324A:p.V108V,RALGDS:NM_001271775:exon3:c.G372A:p.V124V,RALGDS:NM_001271776:exon3:c.G375A:p.V125V,RALGDS:NM_006266:exon3:c.G375A:p.V125V exonic ENSG00000160271 NA synonymous SNV ENSG00000160271:ENST00000372047:exon3:c.G375A:p.V125V,ENSG00000160271:ENST00000372050:exon3:c.G375A:p.V125V,ENSG00000160271:ENST00000372062:exon3:c.G324A:p.V108V,ENSG00000160271:ENST00000393157:exon3:c.G372A:p.V124V,ENSG00000160271:ENST00000393160:exon3:c.G210A:p.V70V,ENSG00000160271:ENST00000542690:exon8:c.G588A:p.V196V Score=516;Name=lod=166 NA 9q34.2 Score=875;Name=V$TAL1BETAE47_01,V$TAL1ALPHAE47_01 NA NA NA rs3761824 0.23 0.23 0.218 0.248602 0.2704 0.3204 0.2161 0.1278 0.3384 0.25 0.3 0.2 0.12 0.2853 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.435568 1.435568 NA 0.308023 0.155995 NA 0.145 NA 6.8029436 972 3 135720673 135720673 T C exonic PPP2R3A NA synonymous SNV PPP2R3A:NM_002718:exon2:c.T333C:p.D111D exonic ENSG00000073711 NA synonymous SNV ENSG00000073711:ENST00000264977:exon2:c.T333C:p.D111D Score=692;Name=lod=863 NA 3q22.3 Score=833;Name=V$CHOP_01 NA NA NA rs9872542 0.17 0.17 0.157 0.186901 0.2783 0.0288 0.1455 0.202 0.2648 0.27 0.02 0.16 0.18 0.2699 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04034 NA NA 0.315538 0.216523 NA 0.232 NA 6.8029286 972 3 187089031 187089031 C A exonic RTP4 NA nonsynonymous SNV RTP4:NM_022147:exon2:c.C611A:p.A204D exonic ENSG00000136514 NA nonsynonymous SNV ENSG00000136514:ENST00000259030:exon2:c.C611A:p.A204D NA NA 3q27.3 NA NA NA NA rs1003995 0.31 0.31 0.273 0.287939 0.3419 0.4504 0.4524 0.0348 0.2904 0.34 0.44 0.4 0.06 0.343 0.44 0.3 T 0.718 P 0.22 B . . 1.000 P 0.345 N 2.12 T -0.924 T 0.000 T 0.072 1.79 11.95 0.673 0.154 0.841 3.525 1.790253 1.790253 0.69 0.345698 0.101906 NA 0.181 NA 6.8027354 972 12 8374812 8374812 G A exonic FAM90A1 NA nonsynonymous SNV FAM90A1:NM_018088:exon7:c.C1001T:p.P334L exonic ENSG00000171847 NA nonsynonymous SNV ENSG00000171847:ENST00000307435:exon6:c.C1001T:p.P334L,ENSG00000171847:ENST00000538603:exon7:c.C1001T:p.P334L NA NA 12p13.31 NA NA NA NA rs17855656 0.21 0.21 0.165 0.226038 0.1829 0.4087 0.1801 0.0983 0.2873 0.17 0.38 0.19 0.09 0.1999 0.38 0.22 T 0.023 B 0.014 B . . 1.000 P 0.935 L 2.43 T -0.910 T 0.000 T 0.097 -2.031 0.006 -1.44 -0.509 -0.651 4.048 -2.030824 NA 0.12 0.149346 0.086877 ID=COSM1364570;OCCURENCE=1(large_intestine) 0.029 NA 6.8011874 972 2 97020049 97020049 T C exonic NCAPH NA synonymous SNV NCAPH:NM_015341:exon9:c.T1131C:p.D377D exonic ENSG00000121152 NA synonymous SNV ENSG00000121152:ENST00000427946:exon8:c.T723C:p.D241D,ENSG00000121152:ENST00000240423:exon9:c.T1131C:p.D377D,ENSG00000121152:ENST00000435975:exon9:c.T1098C:p.D366D,ENSG00000121152:ENST00000455200:exon9:c.T1098C:p.D366D Score=265;Name=lod=16 NA 2q11.2 NA Name=CTCF NA NA rs3731935 0.2 0.2 0.192 0.279153 0.2763 0.2232 0.2334 0.0416 0.6933 0.27 0.2 0.24 0.05 0.3032 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515178 NA NA 0.287209 0.079664 ID=COSM148905;OCCURENCE=1(stomach) 0.152 NA 6.7999576 972 3 14559314 14559314 G A exonic GRIP2 NA unknown UNKNOWN ncRNA_exonic ENSG00000144596 NA NA NA Score=497;Name=lod=140 NA 3p25.1 Score=916;Name=V$LMO2COM_01 NA NA NA rs139277068 0.01 0.01 0.006 0.00579073 0.0099 NA 0.0043 0.0008 0.0153 0.01 NA 0.01 NA 0.0137 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539791 NA NA 0.009887 0.002004 NA 0.007 NA 6.7998463 972 19 49379167 49379167 C T exonic PPP1R15A NA synonymous SNV PPP1R15A:NM_014330:exon3:c.C1962T:p.A654A exonic ENSG00000087074 NA synonymous SNV ENSG00000087074:ENST00000200453:exon3:c.C1962T:p.A654A NA NA 19q13.33 NA Name=Pol2-4H8,c-Myc,ZBTB7A_(SC-34508),Pol2 Name=66 NA rs524 0.34 0.34 0.333 0.356629 0.2803 0.1984 0.2896 0.5764 0.3487 0.28 0.23 0.29 0.58 0.2995 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56285 NA NA 0.287093 0.515207 NA 0.391 NA 6.7997736 972 19 49379182 49379182 G C exonic PPP1R15A NA synonymous SNV PPP1R15A:NM_014330:exon3:c.G1977C:p.S659S exonic ENSG00000087074 NA synonymous SNV ENSG00000087074:ENST00000200453:exon3:c.G1977C:p.S659S NA NA 19q13.33 NA Name=Pol2-4H8,ZBTB7A_(SC-34508),c-Myc,Pol2 Name=66 NA rs527 0.34 0.34 0.363 0.356629 0.2803 0.1984 0.2896 0.5764 0.3487 0.28 0.23 0.29 0.58 0.3003 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166002 NA NA 0.287093 0.515887 NA 0.362 NA 6.7989736 972 15 41857303 41857303 T C exonic TYRO3 NA synonymous SNV TYRO3:NM_006293:exon6:c.T747C:p.A249A exonic ENSG00000092445 NA synonymous SNV ENSG00000092445:ENST00000263798:exon6:c.T747C:p.A249A,ENSG00000092445:ENST00000559066:exon6:c.T612C:p.A204A Score=336;Name=lod=31 NA 15q15.1 Score=732;Name=V$NRSF_01 NA NA NA rs2277536 0.27 0.27 0.228 0.267173 0.3082 0.1736 0.4063 0.1959 0.319 0.32 0.16 0.4 0.22 0.2746 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.752909 1.752909 NA 0.285465 0.201997 NA 0.167 NA 6.7984016 972 1 169510475 169510475 G T exonic F5 NA nonsynonymous SNV F5:NM_000130:exon13:c.C3853A:p.L1285I exonic ENSG00000198734 NA nonsynonymous SNV ENSG00000198734:ENST00000367796:exon13:c.C3868A:p.L1290I,ENSG00000198734:ENST00000367797:exon13:c.C3853A:p.L1285I NA NA 1q24.2 NA NA NA NA rs1046712 0.15 0.15 0.122 0.164736 0.1819 0.1131 0.1441 0.1611 0.2198 0.18 0.12 0.15 0.13 0.1788 0.18 0.41 T 0.003 B 0.002 B 0.134 N 1.000 N 1.07 L 1.2 T -1.052 T 0.019 T 0.045 -0.243 2.831 -1.42 -0.125 0.152 0.717 -0.242704 NA 0.24 0.174651 0.175897 NA 0.138 NA 6.7979824 972 3 4842231 4842231 C T exonic ITPR1 NA synonymous SNV ITPR1:NM_002222:exon50:c.C6865T:p.L2289L,ITPR1:NM_001099952:exon51:c.C6910T:p.L2304L,ITPR1:NM_001168272:exon53:c.C7009T:p.L2337L exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000456211:exon50:c.C6865T:p.L2289L,ENSG00000150995:ENST00000357086:exon51:c.C6910T:p.L2304L,ENSG00000150995:ENST00000423119:exon51:c.C6910T:p.L2304L,ENSG00000150995:ENST00000443694:exon51:c.C7009T:p.L2337L,ENSG00000150995:ENST00000302640:exon53:c.C7009T:p.L2337L,ENSG00000150995:ENST00000354582:exon53:c.C7009T:p.L2337L Score=403;Name=lod=58 NA 3p26.1 NA NA NA NA rs2291862 0.3 0.3 0.255 0.264577 0.3062 0.377 0.3617 0.1165 0.2372 0.29 0.4 0.36 0.15 0.2868 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145787 NA NA 0.275979 0.134774 NA 0.362 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117303.2;CLNDSDB=.;CLNDSDBID=. 6.7976876 972 21 47423507 47423507 G A exonic COL6A1 NA synonymous SNV COL6A1:NM_001848:exon35:c.G2667A:p.A889A exonic ENSG00000142156 NA synonymous SNV ENSG00000142156:ENST00000361866:exon35:c.G2667A:p.A889A NA NA 21q22.3 NA NA Name=11 NA rs1053315 0.28 0.28 0.259 0.268171 0.2734 0.1379 0.281 0.4077 0.1994 0.27 0.16 0.29 0.41 0.2859 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789434 NA NA 0.310188 0.3901 ID=COSM329269;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) 0.326 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079801.3;CLNDSDB=.;CLNDSDBID=. 6.7971786 972 1 61869783 61869783 G A exonic NFIA NA synonymous SNV NFIA:NM_001134673:exon8:c.G1083A:p.P361P,NFIA:NM_001145511:exon8:c.G1059A:p.P353P,NFIA:NM_005595:exon8:c.G1083A:p.P361P,NFIA:NM_001145512:exon9:c.G1218A:p.P406P exonic ENSG00000162599 NA synonymous SNV ENSG00000162599:ENST00000357977:exon1:c.G27A:p.P9P,ENSG00000162599:ENST00000371184:exon4:c.G696A:p.P232P,ENSG00000162599:ENST00000371185:exon7:c.G1017A:p.P339P,ENSG00000162599:ENST00000485903:exon7:c.G954A:p.P318P,ENSG00000162599:ENST00000371187:exon8:c.G1083A:p.P361P,ENSG00000162599:ENST00000371191:exon8:c.G1152A:p.P384P,ENSG00000162599:ENST00000403491:exon8:c.G1083A:p.P361P,ENSG00000162599:ENST00000407417:exon8:c.G1059A:p.P353P,ENSG00000162599:ENST00000371189:exon9:c.G1218A:p.P406P NA NA 1p31.3 NA Name=USF-1,KAP1 Name=45 NA rs2236059 0.37 0.37 0.349 0.353834 0.2853 0.5625 0.3761 0.289 0.2812 0.31 0.57 0.34 0.25 0.3185 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016447 NA NA 0.267326 0.285747 NA 0.333 NA 6.7955406 972 16 74877733 74877733 A G intergenic FA2H,WDR59 dist=69004;dist=29738 NA NA ncRNA_exonic ENSG00000261458 NA NA NA Score=531;Name=lod=192 NA 16q23.1 NA Name=FOXA1_(C-20) Name=13 NA rs12923470 0.31 0.31 0.269 0.322284 0.2048 0.5446 0.4251 0.1218 0.4121 0.22 0.56 0.33 0.12 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276136 1.276136 NA NA NA NA 0.21 NA 6.7952 973 7 47913580 47913580 G A exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon24:c.C3813T:p.G1271G exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon24:c.C3813T:p.G1271G NA NA 7p12.3 Score=867;Name=V$TAL1ALPHAE47_01 NA Name=67 NA rs73105162 0.22 0.22 0.261 0.304313 0.2932 0.0962 0.3357 0.4455 0.317 0.22 0.08 0.29 0.32 0.299 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283526 NA NA 0.280581 0.416478 NA NA NA 6.7938856 973 10 101445591 101445591 A C exonic ENTPD7 NA synonymous SNV ENTPD7:NM_020354:exon6:c.A591C:p.P197P exonic ENSG00000198018 NA synonymous SNV ENSG00000198018:ENST00000370489:exon6:c.A591C:p.P197P NA NA 10q24.2 NA Name=GATA2_(CG2-96),STAT3,EBF1_(C-8),ELF1_(SC-631),PU.1,Pol2 Name=56 NA rs3740078 0.28 0.28 0.267 0.251597 0.3082 0.2956 0.2277 0.233 0.1902 0.32 0.28 0.23 0.23 0.2657 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925864 NA NA 0.298953 0.231502 NA 0.225 NA 6.7938136 973 8 27312135 27312135 G A intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA Score=405;Name=lod=59 NA 8p21.2 Score=880;Name=V$AREB6_01 Name=Max,CTCF Name=24 NA rs7007145 0.38 0.38 0.401 0.428914 0.3956 0.1964 0.4121 0.6392 0.4305 0.41 0.16 0.38 0.6 0.4026 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586305 NA NA 0.408372 0.590331 NA 0.551 NA 6.793428 973 1 156639753 156639753 G A exonic NES NA synonymous SNV NES:NM_006617:exon4:c.C4227T:p.S1409S exonic ENSG00000132688 NA synonymous SNV ENSG00000132688:ENST00000368223:exon4:c.C4227T:p.S1409S Score=484;Name=lod=124 NA 1q23.1 Score=709;Name=V$HOX13_01 Name=ZNF263 NA NA rs11582300 0.65 0.65 0.609 0.618411 0.6312 0.8611 0.6787 0.385 0.6278 0.63 0.85 0.68 0.4 0.623 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719571 NA NA 0.61953 0.399001 NA 0.478 NA 6.7929366 973 6 29796327 29796327 C T exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon4:c.C351T:p.H117H exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000360323:exon3:c.C351T:p.H117H,ENSG00000204632:ENST00000376828:exon4:c.C366T:p.H122H,ENSG00000204632:ENST00000428701:exon4:c.C351T:p.H117H Score=300;Name=lod=22 NA 6p22.1 NA NA Name=2 NA rs1130356 0.24 0.24 0.248 0.2502 0.2763 0.1141 0.2565 0.2625 0.3425 0.28 0.15 0.23 0.3 0.2853 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09715 NA NA 0.312408 0.272697 NA 0.261 NA 6.7926586 973 21 43531553 43531553 A C exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001199527:exon11:c.A2005C:p.T669P,UMODL1:NM_173568:exon11:c.A2221C:p.T741P exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400427:exon11:c.A2005C:p.T669P,ENSG00000177398:ENST00000408989:exon11:c.A2221C:p.T741P NA NA 21q22.3 NA Name=EBF NA NA rs220128 0.45 0.45 0.405 0.416134 0.5318 0.5357 0.5101 0.1573 0.4571 0.56 0.51 0.5 0.19 0.495 0.56 1 T 0.0 B 0.0 B 0.093 N 1.000 P . . -0.61 T -0.973 T 0.000 T 0.02 -0.943 0.354 -0.782 -0.579 -0.444 3.390 -0.943422 NA 0.38 0.514124 0.229504 NA 0.428 NA 6.7924094 973 19 58572979 58572979 G A exonic ZNF135 NA nonsynonymous SNV ZNF135:NM_001164527:exon2:c.G101A:p.G34D,ZNF135:NM_001164529:exon2:c.G101A:p.G34D,ZNF135:NM_001164530:exon2:c.G101A:p.G34D,ZNF135:NM_007134:exon2:c.G101A:p.G34D,ZNF135:NM_003436:exon3:c.G65A:p.G22D exonic ENSG00000176293 NA nonsynonymous SNV ENSG00000176293:ENST00000359978:exon2:c.G101A:p.G34D,ENSG00000176293:ENST00000401053:exon2:c.G101A:p.G34D,ENSG00000176293:ENST00000515535:exon2:c.G65A:p.G22D,ENSG00000176293:ENST00000313434:exon3:c.G65A:p.G22D,ENSG00000176293:ENST00000439855:exon3:c.G65A:p.G22D,ENSG00000176293:ENST00000511556:exon3:c.G65A:p.G22D Score=371;Name=lod=43 NA 19q13.43 NA NA NA NA rs1469087 0.78 0.78 0.807 0.782548 0.8598 0.4871 0.8184 0.9342 0.7771 0.86 0.52 0.82 0.94 0.8251 0.94 1 T 0.0 B 0.001 B . . 0.000 P -2.145 N 4.97 T -1.066 T 0.000 T 0.499 -1.717 0.011 1.48 0.022 1.107 5.863 -1.716744 NA 1 0.856512 0.928507 NA 0.841 NA 6.7919214 973 3 47712202 47712202 T C exonic SMARCC1 NA synonymous SNV SMARCC1:NM_003074:exon19:c.A1845G:p.K615K exonic ENSG00000173473 NA synonymous SNV ENSG00000173473:ENST00000254480:exon19:c.A1845G:p.K615K Score=571;Name=lod=278 NA 3p21.31 NA NA Name=9 NA rs1141601 0.25 0.25 0.216 0.184904 0.3221 0.251 0.2795 0.0113 0.1431 0.33 0.28 0.33 0.02 0.2718 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025163 NA NA 0.282326 0.05833 NA 0.283 NA 6.7904406 973 16 85706047 85706047 A C exonic GSE1 NA synonymous SNV GSE1:NM_001134473:exon15:c.A3244C:p.R1082R,GSE1:NM_014615:exon16:c.A3556C:p.R1186R exonic ENSG00000131149 NA synonymous SNV ENSG00000131149:ENST00000393243:exon15:c.A3337C:p.R1113R,ENSG00000131149:ENST00000405402:exon15:c.A3244C:p.R1082R,ENSG00000131149:ENST00000253458:exon16:c.A3556C:p.R1186R NA NA 16q24.1 NA NA NA NA rs9940601 0.68 0.68 0.663 0.681909 0.6044 0.873 0.5562 0.6082 0.7536 0.61 0.88 0.57 0.62 0.6568 0.88 . . . . . . . . 0.000 P . . . . -0.930 T 0.000 T . -1.017 0.237 -4.9 -1.792 -0.023 23.865 -1.016584 NA NA 0.615116 0.635123 NA 0.63 NA 6.7903506 973 7 43506059 43506059 A G exonic HECW1 NA synonymous SNV HECW1:NM_015052:exon15:c.A2805G:p.E935E exonic ENSG00000002746 NA synonymous SNV ENSG00000002746:ENST00000453890:exon13:c.A2703G:p.E901E,ENSG00000002746:ENST00000395891:exon15:c.A2805G:p.E935E Score=492;Name=lod=133 NA 7p13 Score=811;Name=V$ER_Q6 NA Name=35 NA rs2304329 0.54 0.54 0.529 0.555312 0.6352 0.3879 0.5533 0.5098 0.7086 0.64 0.42 0.58 0.49 0.6098 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984753 NA NA 0.631955 0.521828 NA 0.652 NA 6.7897116 973 3 49738945 49738945 C T exonic RNF123 NA synonymous SNV RNF123:NM_022064:exon16:c.C1299T:p.V433V exonic ENSG00000164068 NA synonymous SNV ENSG00000164068:ENST00000432042:exon13:c.C861T:p.V287V,ENSG00000164068:ENST00000327697:exon16:c.C1299T:p.V433V,ENSG00000164068:ENST00000457726:exon16:c.C1299T:p.V433V NA NA 3p21.31 NA Name=CTCF_(C-20),Rad21,CTCF,CTCF_(SC-5916) Name=17 NA rs6804655 0.22 0.22 0.247 0.238219 0.3091 0.1518 0.2017 0.2095 0.319 0.3 0.17 0.19 0.17 0.2684 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206803 NA NA 0.300349 0.207217 NA 0.174 NA 6.7888176 973 22 20959252 20959252 A G intergenic MED15,POM121L4P dist=17333;dist=84591 NA NA ncRNA_exonic ENSG00000223553 NA NA NA Score=570;Name=lod=277 NA 22q11.21 NA Name=Rad21,CTCF,CTCF_(SC-5916),ZBTB7A_(SC-34508) Name=6 NA rs526942 0.36 0.36 0.368 0.432907 0.2117 0.377 0.3098 0.6687 0.4867 0.21 0.34 0.27 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020341 NA NA NA NA NA 0.384 NA 6.7883 973 11 8435077 8435077 C T exonic STK33 NA nonsynonymous SNV STK33:NM_030906:exon13:c.G1309A:p.A437T exonic ENSG00000130413 NA nonsynonymous SNV ENSG00000130413:ENST00000358872:exon10:c.G748A:p.A250T,ENSG00000130413:ENST00000447869:exon11:c.G1309A:p.A437T,ENSG00000130413:ENST00000396672:exon12:c.G1309A:p.A437T,ENSG00000130413:ENST00000315204:exon13:c.G1309A:p.A437T,ENSG00000130413:ENST00000534493:exon13:c.G1186A:p.A396T NA NA 11p15.4 NA NA NA NA rs3751095 0.19 0.19 NA 0.249601 0.2545 0.2877 0.2565 0.1142 0.3834 0.18 0.22 0.28 0.08 0.2567 0.28 0.61 T 0.002 B 0.001 B 0.001 N 1.000 P 0 N -0.47 T -1.091 T 0.000 T 0.039 1.407 10.64 -1.09 -0.280 -0.871 3.052 1.407242 1.407242 0.47 0.034101 0.011358 NA NA NA 6.7880324 973 10 88702390 88702390 G A exonic MMRN2 NA synonymous SNV MMRN2:NM_024756:exon6:c.C2151T:p.A717A exonic ENSG00000173269 NA synonymous SNV ENSG00000173269:ENST00000372027:exon6:c.C2151T:p.A717A Score=336;Name=lod=31 NA 10q23.2 NA NA Name=9 NA rs10887673 0.19 0.19 0.2 0.202276 0.3002 0.0645 0.2248 0.1142 0.3466 0.31 0.07 0.26 0.11 0.2776 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388092 NA NA 0.30114 0.144934 NA 0.246 NA 6.7877266 973 10 11356160 11356160 C T exonic CELF2 NA synonymous SNV CELF2:NM_001025076:exon10:c.C942T:p.L314L,CELF2:NM_001025077:exon10:c.C1014T:p.L338L,CELF2:NM_001083591:exon10:c.C942T:p.L314L,CELF2:NM_006561:exon10:c.C1035T:p.L345L exonic ENSG00000048740 NA synonymous SNV ENSG00000048740:ENST00000537122:exon8:c.C681T:p.L227L,ENSG00000048740:ENST00000354897:exon9:c.C942T:p.L314L,ENSG00000048740:ENST00000315874:exon10:c.C942T:p.L314L,ENSG00000048740:ENST00000354440:exon10:c.C942T:p.L314L,ENSG00000048740:ENST00000379261:exon10:c.C1014T:p.L338L,ENSG00000048740:ENST00000399850:exon10:c.C942T:p.L314L,ENSG00000048740:ENST00000416382:exon10:c.C1014T:p.L338L,ENSG00000048740:ENST00000417956:exon10:c.C942T:p.L314L,ENSG00000048740:ENST00000427450:exon10:c.C942T:p.L314L,ENSG00000048740:ENST00000450189:exon10:c.C1035T:p.L345L,ENSG00000048740:ENST00000542579:exon10:c.C1035T:p.L345L Score=694;Name=lod=879 NA 10p14 Score=863;Name=V$NFKB_C NA NA NA rs2246449 0.39 0.39 0.398 0.451078 0.2684 0.4871 0.2594 0.6377 0.4857 0.27 0.49 0.24 0.57 0.3493 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239411 1.239411 NA 0.26149 0.559771 NA 0.464 NA 6.7874766 973 12 11338781 11338781 C A exonic TAS2R42 NA nonsynonymous SNV TAS2R42:NM_181429:exon1:c.G763T:p.G255W exonic ENSG00000186136 NA nonsynonymous SNV ENSG00000186136:ENST00000334266:exon1:c.G763T:p.G255W NA NA 12p13.2 NA NA NA NA rs1669413 0.79 0.79 0.766 0.760783 0.8688 0.9514 0.8473 0.407 0.8701 0.88 0.96 0.85 0.42 0.838 0.96 0.55 T 0.0 B 0.0 B 0.117 N 1.000 P -2.79 N 1.21 T -0.981 T 0.000 T 0.11 0.176 4.947 2.32 0.588 1.221 3.936 0.17602 NA 0.6 0.839651 0.467771 NA 0.746 NA 6.7868824 973 11 8435078 8435078 A C exonic STK33 NA nonsynonymous SNV STK33:NM_030906:exon13:c.T1308G:p.D436E exonic ENSG00000130413 NA nonsynonymous SNV ENSG00000130413:ENST00000358872:exon10:c.T747G:p.D249E,ENSG00000130413:ENST00000447869:exon11:c.T1308G:p.D436E,ENSG00000130413:ENST00000396672:exon12:c.T1308G:p.D436E,ENSG00000130413:ENST00000315204:exon13:c.T1308G:p.D436E,ENSG00000130413:ENST00000534493:exon13:c.T1185G:p.D395E NA NA 11p15.4 NA NA NA NA rs3751096 0.19 0.19 NA 0.249601 0.2545 0.2877 0.2565 0.1142 0.3834 0.18 0.22 0.28 0.08 0.2566 0.28 0.36 T 0.079 B 0.009 B 0.553 N 1.000 P 0.805 L -0.41 T -1.100 T 0.000 T 0.066 0.9 8.659 1.14 0.379 0.097 6.157 0.900084 NA 0.6 0.035382 0.015448 NA NA NA 6.7868514 973 1 248059456 248059456 G A exonic OR2W3 NA nonsynonymous SNV OR2W3:NM_001001957:exon1:c.G568A:p.V190I exonic ENSG00000238243 NA nonsynonymous SNV ENSG00000238243:ENST00000360358:exon1:c.G568A:p.V190I,ENSG00000238243:ENST00000537741:exon3:c.G568A:p.V190I NA NA 1q44 NA NA NA NA rs12135078 0.38 0.38 0.347 0.363618 0.5507 0.5327 0.3357 0.0545 0.4346 0.52 0.47 0.35 0.07 0.4613 0.54 0.08 T 0.145 B 0.104 B 0.120 N 1.000 P 1.525 L 8.76 T -1.000 T 0.000 T 0.024 0.723 7.848 0.041 0.382 -1.678 4.048 0.723453 NA 0.07 0.535465 0.135497 ID=COSM1600163;OCCURENCE=1(central_nervous_system) 0.362 NA 6.7858684 973 12 93150102 93150102 T C exonic PLEKHG7 NA nonsynonymous SNV PLEKHG7:NM_001004330:exon8:c.T635C:p.M212T exonic ENSG00000187510 NA nonsynonymous SNV ENSG00000187510:ENST00000344636:exon8:c.T635C:p.M212T Score=536;Name=lod=202 NA 12q22 NA NA NA NA rs924326 0.64 0.64 0.612 0.647564 0.4871 0.8919 0.7017 0.5628 0.637 0.49 0.9 0.68 0.54 0.5706 0.9 1 T 0.001 B 0.0 B 0.023 N 1.000 P 0.14 N 1.56 T -0.946 T 0.000 T 0.041 -1.586 0.014 1.11 -0.061 -0.625 1.025 -1.585935 NA 1 0.490116 0.538811 NA 0.5 NA 6.7855174 973 3 49751585 49751585 C T exonic RNF123 NA synonymous SNV RNF123:NM_022064:exon31:c.C2988T:p.D996D exonic ENSG00000164068 NA synonymous SNV ENSG00000164068:ENST00000433785:exon5:c.C324T:p.D108D,ENSG00000164068:ENST00000327697:exon31:c.C2988T:p.D996D Score=548;Name=lod=226 NA 3p21.31 Score=851;Name=V$CHX10_01 NA NA NA rs2291542 0.23 0.23 0.239 0.250399 0.3091 0.1538 0.2061 0.2519 0.319 0.3 0.17 0.2 0.21 0.2712 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834875 NA NA 0.30093 0.25261 ID=COSM1424005;OCCURENCE=1(large_intestine) 0.181 NA 6.7854366 973 1 10435324 10435324 C A exonic KIF1B NA synonymous SNV KIF1B:NM_015074:exon46:c.C5163A:p.T1721T exonic ENSG00000054523 NA synonymous SNV ENSG00000054523:ENST00000263934:exon46:c.C5163A:p.T1721T,ENSG00000054523:ENST00000377081:exon47:c.C5301A:p.T1767T,ENSG00000054523:ENST00000377086:exon48:c.C5301A:p.T1767T Score=620;Name=lod=440 NA 1p36.22 NA NA NA NA rs11121552 0.26 0.26 0.238 0.231629 0.3091 0.2827 0.3199 0.0575 0.272 0.31 0.31 0.35 0.07 0.2717 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893251 NA NA 0.300581 0.093736 ID=COSM146393;OCCURENCE=1(stomach) 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117408.2;CLNDSDB=.;CLNDSDBID=. 6.7852856 974 21 38525356 38525356 T C exonic TTC3 NA nonsynonymous SNV TTC3:NM_001001894:exon27:c.T2519C:p.M840T,TTC3:NM_003316:exon27:c.T2519C:p.M840T exonic ENSG00000182670 NA nonsynonymous SNV ENSG00000182670:ENST00000540756:exon18:c.T1589C:p.M530T,ENSG00000182670:ENST00000354749:exon26:c.T2519C:p.M840T,ENSG00000182670:ENST00000438055:exon26:c.T2465C:p.M822T,ENSG00000182670:ENST00000355666:exon27:c.T2519C:p.M840T,ENSG00000182670:ENST00000399017:exon27:c.T2519C:p.M840T,ENSG00000182670:ENST00000418766:exon27:c.T2519C:p.M840T Score=459;Name=lod=98 NA 21q22.13 NA NA NA NA rs1053808 0.61 0.61 0.59 0.627995 0.505 0.621 0.6628 0.7103 0.6258 0.5 0.65 0.64 0.71 0.5582 0.71 1 T 0.0 B 0.0 B 0.032 N 0.000 P -0.69 N 3.28 T -0.928 T 0.000 T 0.228 -2.135 0.005 -0.107 -0.472 0.014 12.196 -2.135049 NA 1 0.486163 0.687472 NA 0.703 NA 6.7839704 974 19 33183352 33183352 G C exonic NUDT19 NA synonymous SNV NUDT19:NM_001105570:exon1:c.G486C:p.P162P exonic ENSG00000213965 NA synonymous SNV ENSG00000213965:ENST00000397061:exon1:c.G486C:p.P162P NA NA 19q13.11 NA Name=E2F6_(H-50),PU.1,Pol2,E2F6,Max,ELF1_(SC-631),Egr-1,Sin3Ak-20,Nrf1 Name=132 NA rs61732600 0.26 0.26 0.251 0.221446 0.3062 0.249 0.245 0.1498 0.1861 0.28 0.3 0.23 0.18 0.3202 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849796 NA NA 0.256665 0.140841 NA 0.072 NA 6.7836016 974 1 9009444 9009444 A C exonic CA6 NA nonsynonymous SNV CA6:NM_001215:exon2:c.A202C:p.M68L,CA6:NM_001270500:exon2:c.A202C:p.M68L exonic ENSG00000131686 NA nonsynonymous SNV ENSG00000131686:ENST00000319474:exon2:c.A202C:p.M68L,ENSG00000131686:ENST00000377436:exon2:c.A202C:p.M68L,ENSG00000131686:ENST00000377443:exon2:c.A202C:p.M68L,ENSG00000131686:ENST00000480186:exon2:c.A202C:p.M68L NA NA 1p36.23 NA NA NA NA rs2274328 0.49 0.49 0.477 0.501398 0.5358 0.4127 0.4712 0.5598 0.5 0.51 0.42 0.5 0.54 0.4908 0.55 . . 0.0 B 0.0 B 0.000 N 0.000 P -2.015 N 0.07 T -0.928 T 0.000 T 0.093 -0.489 1.753 2.4 0.058 0.497 4.599 -0.488725 NA 0.84 0.523837 0.545393 ID=COSM1599878,COSM1599877;OCCURENCE=1(central_nervous_system) 0.449 NA 6.7828964 974 19 44418077 44418077 C T exonic ZNF45 NA nonsynonymous SNV ZNF45:NM_003425:exon10:c.G1511A:p.R504K exonic ENSG00000124459 NA nonsynonymous SNV ENSG00000124459:ENST00000589703:exon4:c.G1511A:p.R504K,ENSG00000124459:ENST00000269973:exon10:c.G1511A:p.R504K NA NA 19q13.31 NA NA NA NA rs407731 0.57 0.57 0.554 0.52516 0.5169 0.7996 0.6484 0.3336 0.4223 0.51 0.82 0.57 0.38 0.5279 0.82 0.11 T 0.0 B 0.0 B 0.035 N 1.000 P -0.765 N 3.2 T -1.083 T 0.000 T 0.029 0.221 5.19 2.56 0.096 0.794 5.963 0.220623 NA 0.79 0.50593 0.358829 NA 0.5 NA 6.7826034 974 16 81242151 81242151 T C exonic PKD1L2 NA synonymous SNV PKD1L2:NM_001076780:exon4:c.A705G:p.G235G exonic ENSG00000166473,ENSG00000269323 NA synonymous SNV ENSG00000166473:ENST00000337114:exon4:c.A705G:p.G235G,ENSG00000269323:ENST00000599697:exon4:c.A705G:p.G235G Score=496;Name=lod=138 NA 16q23.2 Score=895;Name=V$CEBP_01 NA NA NA rs5818326 NA NA NA 0.441494 0.4205 0.8026 0.4625 0.1717 0.4407 NA NA NA NA 0.4641 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.172191 NA NA NA NA ID=COSM314180,COSM314179;OCCURENCE=1(breast),1(lung) NA NA 6.7820666 974 8 125076589 125076589 T G exonic FER1L6 NA nonsynonymous SNV FER1L6:NM_001039112:exon26:c.T3330G:p.D1110E exonic ENSG00000214814 NA nonsynonymous SNV ENSG00000214814:ENST00000399018:exon25:c.T3330G:p.D1110E,ENSG00000214814:ENST00000522917:exon26:c.T3330G:p.D1110E NA NA 8q24.13 NA NA NA NA rs7012186 0.78 0.78 0.778 0.773363 0.8708 0.6716 0.7089 0.7746 0.8221 0.86 0.7 0.75 0.77 0.8177 0.86 1 T 0.0 B 0.0 B . . 1.000 P 0 N -1.39 T -0.953 T 0.000 T 0.015 -0.838 0.579 -6.3 -2.111 -0.307 0.525 -0.837956 NA 1 0.862799 0.805542 NA 0.87 NA 6.7820344 974 19 52471872 52471872 A G exonic ZNF350 NA nonsynonymous SNV ZNF350:NM_021632:exon4:c.T197C:p.L66P exonic ENSG00000256683 NA nonsynonymous SNV ENSG00000256683:ENST00000243644:exon4:c.T197C:p.L66P,ENSG00000256683:ENST00000601430:exon4:c.T89C:p.L30P,ENSG00000256683:ENST00000594929:exon5:c.T197C:p.L66P NA NA 19q13.41 NA NA NA NA rs2278420 0.25 0.25 0.249 0.266973 0.1889 0.2371 0.1801 0.3744 0.2945 0.2 0.21 0.18 0.41 0.2079 0.41 1 T 0.0 B 0.0 B . . 1.000 P -1.495 N 3.74 T -0.950 T 0.000 T 0.029 -3.173 0.001 0.908 -0.194 -0.105 2.750 -3.172985 NA 0.47 0.155814 0.375397 NA 0.261 NA 6.7807194 974 11 86807104 86807104 C A intronic TMEM135 NA NA NA ncRNA_exonic ENSG00000254843 NA NA NA Score=420;Name=lod=68 NA 11q14.2 NA Name=Rad21,CTCF Name=34 NA rs2445552 0.75 0.75 0.742 0.751597 0.5527 0.8869 0.7104 0.9334 0.6002 0.55 0.9 0.67 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61676 NA NA NA NA NA 0.674 NA 6.7806333 974 17 57287454 57287454 A G exonic SMG8 NA synonymous SNV SMG8:NM_018149:exon1:c.A42G:p.A14A exonic ENSG00000167447 NA synonymous SNV ENSG00000167447:ENST00000300917:exon1:c.A42G:p.A14A,ENSG00000167447:ENST00000578922:exon1:c.A42G:p.A14A,ENSG00000167447:ENST00000543872:exon2:c.A42G:p.A14A NA Name=Circulating myeloperoxidase levels (plasma) 17q22 NA Name=POU2F2,WHIP,GABP,TAF1,Znf143_(16618-1-AP),TAF7_(SQ-8),YY1_(C-20),TR4,USF1_(SC-8983),IRF4_(M-17),MEF2A,GATA3_(SC-268),SP1,NRSF,Pol2,Pol2(phosphoS2),HNF4G_(SC-6558),Oct-2,GR,ELF1_(SC-631),BATF,CHD2_(N-1250),GTF2F1_(RAP-74),CEBPB,BHLHE40,p300,ELK4,ZZZ3,FOSL2,Pol2(b),Sin3Ak-20,Pol2-4H8,ZNF263,HDAC2_(SC-6296),KAP1,RFX5_(N-494),YY1,STAT3,SIX5,SETDB1,c-Myc,NFKB,HEY1,STAT2,TBP,IRF1,TCF12,USF-1 Name=147 NA rs6503905 0.65 0.65 0.656 0.664137 0.6183 0.4415 0.5562 0.9546 0.6247 0.62 0.46 0.59 0.94 0.6332 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.760799 NA NA 0.634535 0.889242 NA 0.659 NA 6.7806316 974 11 118560857 118560857 G A intergenic TREH,DDX6 dist=10476;dist=57616 NA NA ncRNA_exonic ENSG00000255239 NA NA NA NA NA 11q23.3 Score=687;Name=V$BRACH_01 Name=CTCF,ELF1_(SC-631),GATA3_(SC-268),NRSF,CCNT2,AP-2gamma,HA-E2F1,GATA-2,STAT3,AP-2alpha,HSF1 Name=148 NA rs73001406 0.21 0.21 0.203 0.229233 0.2197 0.253 0.1945 0.1301 0.3732 0.19 0.27 0.22 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370384 NA NA NA NA NA 0.217 NA 6.7803 974 19 15027982 15027982 G A intergenic OR7A17,OR7C2 dist=35815;dist=24319 NA NA ncRNA_exonic ENSG00000198367 NA NA NA Score=325;Name=lod=28 NA 19p13.12 NA Name=CTCF Name=5 NA rs4427933 0.17 0.17 0.163 0.171925 0.2207 0.0258 0.2118 0.2716 0.1094 0.22 0.02 0.21 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.652918 1.652918 NA NA NA NA 0.217 NA 6.7793 974 3 49701983 49701983 G A exonic BSN NA synonymous SNV BSN:NM_003458:exon9:c.G11736A:p.T3912T exonic ENSG00000164061 NA synonymous SNV ENSG00000164061:ENST00000296452:exon9:c.G11736A:p.T3912T Score=484;Name=lod=124 Name=Ulcerative colitis,Crohn's disease 3p21.31 NA NA NA NA rs9858542 0.22 0.22 0.201 0.195288 0.3241 0.0516 0.17 0.2171 0.1994 0.33 0.06 0.23 0.24 0.2646 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069619 NA NA 0.299651 0.23695 NA 0.304 NA 6.7783156 974 7 64863392 64863392 C T exonic ZNF92 NA nonsynonymous SNV ZNF92:NM_007139:exon3:c.C158T:p.A53V,ZNF92:NM_152626:exon4:c.C365T:p.A122V exonic ENSG00000146757 NA nonsynonymous SNV ENSG00000146757:ENST00000431504:exon2:c.C137T:p.A46V,ENSG00000146757:ENST00000357512:exon3:c.C269T:p.A90V,ENSG00000146757:ENST00000450302:exon3:c.C158T:p.A53V,ENSG00000146757:ENST00000328747:exon4:c.C365T:p.A122V NA NA 7q11.21 NA NA NA NA rs10265083 0.31 0.31 0.306 0.331869 0.161 0.3145 0.4164 0.5234 0.2065 0.15 0.31 0.35 0.53 0.2298 0.53 0.2 T 0.394 B 0.119 B . . 1.000 P 0 N 3.57 T -1.003 T 0.000 T 0.07 0.29 5.57 -0.854 -0.514 0.049 5.009 0.289954 NA 0.04 0.164884 0.449614 NA 0.246 NA 6.7776494 974 21 44270229 44270229 C T exonic WDR4 NA nonsynonymous SNV WDR4:NM_001260474:exon11:c.G1166A:p.R389Q,WDR4:NM_001260475:exon11:c.G731A:p.R244Q,WDR4:NM_001260476:exon11:c.G731A:p.R244Q,WDR4:NM_001260477:exon11:c.G731A:p.R244Q,WDR4:NM_018669:exon11:c.G1169A:p.R390Q,WDR4:NM_033661:exon11:c.G1169A:p.R390Q exonic ENSG00000160193 NA nonsynonymous SNV ENSG00000160193:ENST00000330317:exon11:c.G1169A:p.R390Q,ENSG00000160193:ENST00000398208:exon11:c.G1169A:p.R390Q NA NA 21q22.3 NA NA NA NA rs6586250 0.22 0.22 0.244 0.233427 0.1779 0.0734 0.1513 0.4811 0.1789 0.17 0.08 0.17 0.48 0.1888 0.48 0.72 T 0.021 B 0.002 B 0.396 N 1.000 P -0.295 N -0.0 T -1.003 T 0.000 T 0.107 -0.395 2.15 -1.78 -0.438 -0.223 6.153 -0.394655 NA 0.61 0.18907 0.435996 NA 0.275 NA 6.7775634 974 19 10939792 10939792 T C exonic DNM2 NA synonymous SNV DNM2:NM_001005362:exon18:c.T2127C:p.A709A,DNM2:NM_004945:exon18:c.T2127C:p.A709A,DNM2:NM_001005360:exon19:c.T2139C:p.A713A,DNM2:NM_001005361:exon19:c.T2139C:p.A713A,DNM2:NM_001190716:exon19:c.T2139C:p.A713A exonic ENSG00000079805 NA synonymous SNV ENSG00000079805:ENST00000359692:exon18:c.T2127C:p.A709A,ENSG00000079805:ENST00000408974:exon18:c.T2127C:p.A709A,ENSG00000079805:ENST00000314646:exon19:c.T2139C:p.A713A,ENSG00000079805:ENST00000355667:exon19:c.T2139C:p.A713A,ENSG00000079805:ENST00000389253:exon19:c.T2139C:p.A713A,ENSG00000079805:ENST00000585892:exon19:c.T2139C:p.A713A NA NA 19p13.2 NA Name=CTCF_(SC-5916),ZBTB33,CTCF Name=8 NA rs2229920 0.37 0.37 0.354 0.338259 0.2873 0.5595 0.2695 0.2617 0.3149 0.3 0.6 0.27 0.3 0.3115 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764228 NA NA 0.291163 0.260554 NA 0.297 NA 6.7767036 974 4 104061993 104061993 C G exonic CENPE NA nonsynonymous SNV CENPE:NM_001813:exon36:c.G5732C:p.S1911T exonic ENSG00000138778 NA nonsynonymous SNV ENSG00000138778:ENST00000380026:exon35:c.G5657C:p.S1886T,ENSG00000138778:ENST00000265148:exon36:c.G5732C:p.S1911T NA NA 4q24 NA NA NA NA rs1381657 0.17 0.17 0.164 0.210863 0.1799 0.1548 0.2176 0.1831 0.3333 0.17 0.14 0.21 0.18 0.1932 0.21 0.19 T 0.247 B 0.092 B . . 1.000 P 0.255 N -0.65 T -1.099 T 0.000 T 0.021 -0.461 1.869 -1.34 -0.150 -0.757 9.766 -0.460761 NA 0.53 0.183721 0.177031 NA 0.261 NA 6.7765124 974 14 74203789 74203789 G A exonic ELMSAN1 NA nonsynonymous SNV ELMSAN1:NM_001043318:exon3:c.C1661T:p.P554L,ELMSAN1:NM_194278:exon3:c.C1661T:p.P554L exonic ENSG00000156030 NA nonsynonymous SNV ENSG00000156030:ENST00000423556:exon2:c.C1661T:p.P554L,ENSG00000156030:ENST00000451078:exon2:c.C1127T:p.P376L,ENSG00000156030:ENST00000286523:exon3:c.C1661T:p.P554L,ENSG00000156030:ENST00000394071:exon3:c.C1661T:p.P554L,ENSG00000156030:ENST00000435371:exon3:c.C1661T:p.P554L NA NA 14q24.3 NA NA NA NA rs17782124 0.14 0.14 0.133 0.152955 0.1839 0.1409 0.1182 0.0507 0.2965 0.18 0.14 0.13 0.07 0.1795 0.19 0.21 T 0.0 B 0.0 B 0.923 N 1.000 P 0 N 2.44 T -0.941 T 0.000 T 0.278 0.996 9.069 -0.259 -0.216 0.506 3.679 0.996364 NA 0.31 0.193837 0.064458 NA 0.101 NA 6.7760964 974 3 119222456 119222456 G C exonic TIMMDC1 NA synonymous SNV TIMMDC1:NM_016589:exon3:c.G438C:p.V146V exonic ENSG00000113845 NA stoploss ENSG00000113845:ENST00000492164:exon2:c.G272C:p.X91S Score=415;Name=lod=65 NA 3q13.33 NA NA NA NA rs1131265 0.21 0.21 0.187 0.207268 0.164 0.3562 0.0994 0.1747 0.2188 0.16 0.34 0.13 0.19 0.2088 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602739 NA NA 0.184884 0.207444 ID=COSM149452;OCCURENCE=1(stomach) 0.094 NA 6.7756493 974 1 25889632 25889632 T C exonic LDLRAP1 NA nonsynonymous SNV LDLRAP1:NM_015627:exon6:c.T604C:p.S202P exonic ENSG00000157978 NA nonsynonymous SNV ENSG00000157978:ENST00000374338:exon6:c.T604C:p.S202P NA NA 1p36.11 NA NA NA NA rs6687605 0.46 0.46 0.419 0.434904 0.5239 0.4425 0.5101 0.3207 0.4366 0.49 0.5 0.48 0.34 0.5011 0.53 0.3 T 0.079 B 0.048 B 0.252 N 1.000 P 1.655 L 0.36 T -0.928 T 0.000 T 0.023 1.574 11.22 -2.44 -0.325 -0.615 2.213 1.573662 1.573662 0.07 0.533155 0.344757 NA 0.254 NA 6.7751784 975 6 145051594 145051594 G A exonic UTRN NA synonymous SNV UTRN:NM_007124:exon53:c.G7911A:p.E2637E exonic ENSG00000152818 NA synonymous SNV ENSG00000152818:ENST00000367526:exon4:c.G576A:p.E192E,ENSG00000152818:ENST00000367545:exon53:c.G7911A:p.E2637E Score=570;Name=lod=276 NA 6q24.2 NA NA Name=10 NA rs4305737 0.6 0.6 0.621 0.642772 0.2286 0.8681 0.6225 0.9123 0.4867 0.23 0.86 0.57 0.9 0.411 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750082 NA NA 0.252791 0.789605 NA 0.413 NA 6.7742756 975 17 8053085 8053085 T G exonic PER1 NA synonymous SNV PER1:NM_002616:exon5:c.A639C:p.T213T exonic ENSG00000179094 NA synonymous SNV ENSG00000179094:ENST00000581082:exon4:c.A639C:p.T213T,ENSG00000179094:ENST00000317276:exon5:c.A639C:p.T213T,ENSG00000179094:ENST00000354903:exon5:c.A591C:p.T197T,ENSG00000179094:ENST00000581395:exon5:c.A639C:p.T213T,ENSG00000179094:ENST00000582719:exon5:c.A639C:p.T213T NA NA 17p13.1 NA Name=Pol2 Name=2 NA rs3027178 0.33 0.33 0.322 0.286741 0.2922 0.2738 0.4553 0.267 0.2014 0.3 0.31 0.42 0.33 0.2937 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346724 NA NA 0.306512 0.257149 ID=COSM148188;OCCURENCE=1(stomach) 0.254 NA 6.7742546 975 7 45004063 45004063 T C exonic MYO1G NA nonsynonymous SNV MYO1G:NM_033054:exon19:c.A2582G:p.Q861R exonic ENSG00000136286 NA nonsynonymous SNV ENSG00000136286:ENST00000258787:exon19:c.A2582G:p.Q861R NA NA 7p13 NA NA Name=48 NA rs7792760 0.89 0.89 0.898 0.901558 0.8489 0.8938 0.8588 0.9841 0.8824 0.84 0.91 0.85 0.99 0.8687 0.99 0.73 T 0.0 B 0.001 B 0.384 N 1.000 P -1.265 N -2.16 D -0.981 T 0.000 T 0.037 -2.127 0.005 -0.409 -0.232 0.372 9.293 -2.12685 NA 0.65 0.84186 0.963459 NA 0.964 NA 6.7738734 975 17 42398802 42398802 G A exonic SLC25A39 NA synonymous SNV SLC25A39:NM_001143780:exon7:c.C517T:p.L173L,SLC25A39:NM_016016:exon7:c.C493T:p.L165L exonic ENSG00000013306 NA nonsynonymous SNV ENSG00000013306:ENST00000593166:exon1:c.C91T:p.R31C NA NA 17q21.31 NA NA Name=3 NA rs34365655 0.04 0.04 0.041 0.0263578 0.0855 NA 0.0231 0.0091 0.0184 0.09 NA 0.03 0.02 0.0609 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.177439 NA NA 0.081977 0.018157 NA 0.022 NA 6.771623 975 19 35836530 35836530 G A exonic CD22 NA nonsynonymous SNV CD22:NM_001185101:exon10:c.G1703A:p.G568D,CD22:NM_001185099:exon11:c.G1970A:p.G657D,CD22:NM_001771:exon12:c.G2234A:p.G745D exonic ENSG00000012124 NA nonsynonymous SNV ENSG00000012124:ENST00000594250:exon9:c.G1703A:p.G568D,ENSG00000012124:ENST00000341773:exon10:c.G1703A:p.G568D,ENSG00000012124:ENST00000419549:exon11:c.G1718A:p.G573D,ENSG00000012124:ENST00000536635:exon11:c.G1970A:p.G657D,ENSG00000012124:ENST00000085219:exon12:c.G2234A:p.G745D NA NA 19q13.12 NA NA NA NA rs10406069 0.14 0.14 0.132 0.1248 0.1849 0.2153 0.1311 0.0514 0.0644 0.18 0.19 0.14 0.03 0.1699 0.21 0.09 T 0.289 B 0.07 B 0.661 N 1.000 P 0.69 N 1.08 T -1.059 T 0.000 T 0.096 1.51 11 -1.39 0.100 -0.119 4.982 1.510191 1.510191 0.02 0.207093 0.071266 NA 0.217 NA 6.7714404 975 8 134108546 134108546 T C exonic TG NA nonsynonymous SNV TG:NM_003235:exon43:c.T7501C:p.W2501R exonic ENSG00000042832 NA nonsynonymous SNV ENSG00000042832:ENST00000519543:exon14:c.T1900C:p.W634R,ENSG00000042832:ENST00000542445:exon22:c.T2611C:p.W871R,ENSG00000042832:ENST00000377869:exon42:c.T7330C:p.W2444R,ENSG00000042832:ENST00000220616:exon43:c.T7501C:p.W2501R NA NA 8q24.22 NA NA NA NA rs2069569 0.52 0.52 0.525 0.522364 0.5328 0.2302 0.5086 0.8275 0.41 0.53 0.21 0.53 0.84 0.5024 0.84 0.3 T 0.0 B 0.0 B 0.651 N 1.000 P -0.935 N -0.2 T -1.000 T 0.000 T 0.505 -1.495 0.017 2.0 0.197 -0.018 5.290 -1.494739 NA 0.45 0.527093 0.785747 NA 0.58 NA 6.7710404 975 1 40733658 40733658 A G intronic ZMPSTE24 NA NA NA intronic ENSG00000084073 NA NA NA NA NA 1p34.2 NA Name=STAT3 Name=104 NA rs7516571 0.22 0.22 0.204 0.222644 0.2296 0.2212 0.1859 0.2708 0.1779 0.25 0.21 0.15 0.26 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036631 NA NA NA NA NA 0.261 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000128739.1;CLNDSDB=.;CLNDSDBID=. 6.7704 975 5 32522994 32522994 A G intergenic ZFR,SUB1 dist=78150;dist=62611 NA NA ncRNA_exonic ENSG00000249142 NA NA NA Score=605;Name=lod=385 NA 5p13.3 NA Name=Pol2 Name=84 NA rs17439827 0.16 0.16 0.138 0.139377 0.2296 0.124 0.1671 0.0265 0.1953 0.22 0.15 0.22 0.03 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162057 NA NA NA NA NA 0.196 NA 6.7704 975 8 23058220 23058220 T G exonic TNFRSF10A NA nonsynonymous SNV TNFRSF10A:NM_003844:exon5:c.A683C:p.E228A exonic ENSG00000104689 NA nonsynonymous SNV ENSG00000104689:ENST00000221132:exon5:c.A683C:p.E228A,ENSG00000104689:ENST00000524158:exon5:c.A77C:p.E26A NA NA 8p21.3 NA NA NA NA rs20576 0.11 0.11 0.077 0.0816693 0.2157 0.0119 0.1441 0.0053 0.0746 0.21 0.01 0.18 0.01 0.1491 0.21 0.08 T 0.308 B 0.193 B 0.796 N 1.000 P 1.04 L 1.49 T -1.001 T 0.001 T 0.157 1.199 9.872 0.625 0.010 0.872 5.233 1.199087 NA 0.02 0.2 0.046981 NA 0.094 NA 6.7685334 975 12 52712975 52712975 G A exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon2:c.C558T:p.N186N exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon2:c.C558T:p.N186N Score=563;Name=lod=260 NA 12q13.13 NA NA NA NA rs3741715 0.37 0.37 0.356 0.36262 0.2823 0.506 0.3386 0.3654 0.3108 0.28 0.5 0.36 0.36 0.3231 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163955 NA NA 0.296163 0.364503 NA 0.203 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056955.1;CLNDSDB=.;CLNDSDBID=. 6.7651036 976 2 68592315 68592315 A C upstream PLEK NA NA NA ncRNA_UTR5 ENSG00000115956 NA NA NA NA NA 2p14 Score=725;Name=V$PPARG_01 Name=TAF1,POU2F2,PU.1,Pol2,YY1,Pol2-4H8,Max,NFKB,ELF1_(SC-631),Oct-2,TBP Name=18 NA rs3732046 0.58 0.58 0.57 0.625 0.4036 0.7609 0.611 0.6952 0.6278 0.41 0.74 0.59 0.65 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.529819 2.529819 NA NA NA NA 0.551 NA 6.7630666 976 11 5877979 5877979 T A exonic OR52E8 NA stoploss OR52E8:NM_001005168:exon1:c.A954T:p.X318Y exonic ENSG00000183269 NA stoploss ENSG00000183269:ENST00000537935:exon1:c.A954T:p.X318Y NA NA 11p15.4 NA NA NA NA rs12419602 0.39 0.39 0.388 0.3748 0.4085 0.373 0.4135 0.3737 0.316 0.42 0.37 0.43 0.32 0.406 0.43 . . . . . . . . 1.000 P . . . . . . . . . -0.399 2.13 -1.13 -0.300 -0.134 3.918 -0.399348 NA 0.41 0.423301 0.385173 NA 0.384 NA 6.762199 976 22 39178701 39178701 A G exonic DNAL4 NA synonymous SNV DNAL4:NM_005740:exon2:c.T36C:p.D12D exonic ENSG00000100246 NA synonymous SNV ENSG00000100246:ENST00000216068:exon2:c.T36C:p.D12D,ENSG00000100246:ENST00000406199:exon2:c.T36C:p.D12D Score=575;Name=lod=289 NA 22q13.1 NA NA Name=78 NA rs760482 0.39 0.39 0.404 0.41254 0.2734 0.6925 0.245 0.4206 0.3753 0.27 0.68 0.2 0.39 0.3309 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.304236 1.304236 NA 0.301279 0.376305 NA 0.283 NA 6.7610876 976 17 44344810 44344810 T G intergenic KANSL1,LRRC37A dist=42070;dist=27687 NA NA ncRNA_exonic ENSG00000261575 NA NA NA Score=557;Name=lod=245 NA 17q21.31 NA Name=ZEB1_(SC-25388),ZNF263,GR,CTCF,E2F6_(H-50),TAF1 Name=148 NA rs2732649 0.12 0.12 0.142 0.0866613 0.2396 0.001 0.1556 0.0166 0.0634 0.23 0.0017 0.19 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.532554 1.532554 NA NA NA NA 0.109 NA 6.7604 976 17 74270258 74270258 C A UTR3 QRICH2 NM_032134:c.*59G>T NA NA exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000447564:exon11:c.G1374T:p.P458P NA NA 17q25.1 NA Name=CEBPB Name=4 NA rs73350373 0.09 0.09 0.073 0.110224 0.0736 0.003 0.2046 0.1868 0.0879 0.07 0.0017 0.18 0.16 0.0886 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049095 NA NA 0.078567 0.182081 NA 0.138 NA 6.759233 976 14 24897206 24897206 C G intronic CBLN3 NA NA NA intronic ENSG00000139899 NA NA NA Score=558;Name=lod=247 NA 14q12 Score=882;Name=V$MAZR_01 Name=HNF4G_(SC-6558),USF-1 NA NA rs10140312 0.05 0.05 0.047 0.057508 0.0775 0.001 0.0821 0.0719 0.0583 0.06 NA 0.09 0.08 0.0756 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.920664 1.920664 NA 0.08814 0.078075 NA 0.152 NA 6.75876 976 18 56204945 56204945 C G exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.G2474C:p.R825T exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G2474C:p.R825T NA NA 18q21.32 NA Name=Pol2-4H8 NA NA rs3809972 0.44 0.44 0.44 0.404153 0.5726 0.2361 0.4294 0.4312 0.3497 0.59 0.24 0.51 0.38 0.4687 0.59 0.4 T 0.0 B 0.0 B 0.415 N 1.000 P -0.345 N 1.11 T -0.927 T 0.000 T 0.029 -0.694 0.989 1.3 0.072 -0.435 5.508 -0.694484 NA 0 0.533605 0.450295 NA 0.522 NA 6.7584284 976 14 75367807 75367807 C T exonic DLST NA synonymous SNV DLST:NM_001933:exon14:c.C1098T:p.G366G exonic ENSG00000119689 NA synonymous SNV ENSG00000119689:ENST00000334212:exon11:c.C840T:p.G280G,ENSG00000119689:ENST00000334220:exon14:c.C1098T:p.G366G Score=618;Name=lod=432 NA 14q24.3 Score=850;Name=V$CDPCR1_01 NA NA NA rs20578 0.29 0.29 0.269 0.284145 0.2962 0.2202 0.2349 0.3404 0.2965 0.3 0.25 0.27 0.34 0.3036 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852072 NA NA 0.308488 0.340445 NA 0.188 NA 6.7583786 976 2 60687959 60687959 A G exonic BCL11A NA synonymous SNV BCL11A:NM_018014:exon4:c.T2088C:p.S696S,BCL11A:NM_022893:exon4:c.T2088C:p.S696S exonic ENSG00000119866 NA synonymous SNV ENSG00000119866:ENST00000358510:exon3:c.T1986C:p.S662S,ENSG00000119866:ENST00000538214:exon3:c.T1986C:p.S662S,ENSG00000119866:ENST00000335712:exon4:c.T2088C:p.S696S,ENSG00000119866:ENST00000356842:exon4:c.T2088C:p.S696S,ENSG00000119866:ENST00000537768:exon6:c.T1095C:p.S365S Score=935;Name=lod=8412 NA 2p16.1 Score=834;Name=V$IRF2_01 NA NA Score=86;Name=1224132.2_0_-_86 rs7569946 0.8 0.8 0.785 0.830072 0.5984 0.998 0.7738 0.9486 0.7751 0.59 1 0.73 0.93 0.6977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330888 NA NA 0.612494 0.907769 NA 0.681 NA 6.7580726 976 3 186006618 186006618 G C exonic DGKG NA nonsynonymous SNV DGKG:NM_001080744:exon6:c.C425G:p.T142S,DGKG:NM_001080745:exon6:c.C425G:p.T142S,DGKG:NM_001346:exon6:c.C425G:p.T142S exonic ENSG00000058866 NA nonsynonymous SNV ENSG00000058866:ENST00000265022:exon6:c.C425G:p.T142S,ENSG00000058866:ENST00000344484:exon6:c.C425G:p.T142S,ENSG00000058866:ENST00000382164:exon6:c.C425G:p.T142S,ENSG00000058866:ENST00000544847:exon6:c.C425G:p.T142S NA NA 3q27.3 NA NA NA NA rs1004588 0.54 0.54 0.502 0.51897 0.5318 0.6081 0.5101 0.4387 0.5286 0.54 0.63 0.48 0.49 0.527 0.63 0.96 T 0.002 B 0.009 B 0.914 N 1.000 P 0.345 N 1.0 T -0.922 T 0.000 T 0.057 -0.09 3.558 2.16 0.191 . 5.379 -0.090221 NA 0.99 0.517093 0.437812 NA 0.623 NA 6.7574404 976 8 144620855 144620855 C A exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.G682T:p.A228S exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.G682T:p.A228S NA NA 8q24.3 NA NA NA NA rs4873802 0.14 0.14 0.134 0.149361 0.1978 0.0804 0.2536 0.0348 0.2515 0.21 0.09 0.23 0.03 0.1941 0.23 0.79 T 0.068 B 0.009 B 0.441 N 1.000 P 1.52 L 3.87 T -0.916 T 0.000 T 0.044 -0.138 3.323 0.477 0.147 -0.131 3.828 -0.138368 NA 0.13 0.184125 0.063951 NA 0.152 NA 6.7573084 976 6 32609105 32609105 G A exonic HLA-DQA1 NA nonsynonymous SNV HLA-DQA1:NM_002122:exon2:c.G101A:p.C34Y exonic ENSG00000196735 NA nonsynonymous SNV ENSG00000196735:ENST00000343139:exon2:c.G101A:p.C34Y,ENSG00000196735:ENST00000374949:exon2:c.G101A:p.C34Y,ENSG00000196735:ENST00000395363:exon2:c.G101A:p.C34Y,ENSG00000196735:ENST00000496318:exon2:c.G101A:p.C34Y NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1129740 0.53 0.53 0.48 0.523163 0.5547 0.4623 0.6758 0.503 0.4724 0.53 0.52 0.65 0.45 0.5571 0.65 1 T 0.004 B 0.015 B 0.632 N 1.000 P -2.295 N 6.12 T -0.963 T 0.003 T 0.608 -2.228 0.005 -0.275 -0.454 0.118 1.086 -2.227569 NA 1 0.465409 0.423513 NA 0.232 NA 6.7561244 977 7 157396697 157396697 G A exonic PTPRN2 NA synonymous SNV PTPRN2:NM_130842:exon15:c.C2364T:p.P788P,PTPRN2:NM_130843:exon15:c.C2328T:p.P776P,PTPRN2:NM_002847:exon16:c.C2415T:p.P805P exonic ENSG00000155093 NA synonymous SNV ENSG00000155093:ENST00000389413:exon15:c.C2328T:p.P776P,ENSG00000155093:ENST00000389416:exon15:c.C2364T:p.P788P,ENSG00000155093:ENST00000409483:exon15:c.C2301T:p.P767P,ENSG00000155093:ENST00000389418:exon16:c.C2415T:p.P805P,ENSG00000155093:ENST00000404321:exon16:c.C2484T:p.P828P Score=530;Name=lod=190 NA 7q36.3 Score=797;Name=V$GFI1_01 NA NA NA rs17853260 0.15 0.15 0.15 0.119609 0.334 0.006 0.1628 0.0129 0.1299 0.33 0.01 0.19 0.01 0.2395 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137564 NA NA 0.338372 0.068089 ID=COSM452796;OCCURENCE=1(breast) 0.138 NA 6.7547946 977 22 46644168 46644168 A G exonic CDPF1 NA nonsynonymous SNV CDPF1:NM_207327:exon2:c.T14C:p.V5A exonic ENSG00000205643 NA nonsynonymous SNV ENSG00000205643:ENST00000404583:exon1:c.T14C:p.V5A,ENSG00000205643:ENST00000404744:exon1:c.T14C:p.V5A,ENSG00000205643:ENST00000314567:exon2:c.T14C:p.V5A,ENSG00000205643:ENST00000381037:exon2:c.T14C:p.V5A NA NA 22q13.31 NA NA NA NA rs9627281 0.26 0.26 0.286 0.279153 0.1938 0.001 0.1686 0.7602 0.0818 0.18 NA 0.19 0.73 0.2028 0.73 1 T 0.0 B 0.0 B 0.656 N 1.000 P -1.39 N 1.72 T -0.936 T 0.000 T 0.016 -1.029 0.22 0.371 0.288 0.533 1.612 -1.02907 NA 0.56 0.182674 0.688833 NA 0.391 NA 6.7540594 977 11 60198328 60198328 C T exonic MS4A5 NA synonymous SNV MS4A5:NM_023945:exon2:c.C213T:p.T71T exonic ENSG00000166930 NA synonymous SNV ENSG00000166930:ENST00000300190:exon2:c.C213T:p.T71T,ENSG00000166930:ENST00000533885:exon2:c.C213T:p.T71T NA NA 11q12.2 NA NA NA NA rs708229 0.33 0.33 0.357 0.313698 0.3131 0.2004 0.3069 0.4796 0.2117 0.31 0.25 0.34 0.47 0.2899 0.47 . . . . . . . . 1.000 P . . . . -0.908 T 0.000 T . -1.612 0.013 -2.16 -0.301 -0.279 5.459 -1.612083 NA NA 0.310188 0.416704 NA 0.413 NA 6.7534786 977 3 149686076 149686076 T C intronic PFN2 NA NA NA UTR3 ENSG00000070087 ENST00000461930:c.*249A>G,ENST00000461868:c.*61A>G NA NA Score=272;Name=lod=17 NA 3q25.1 NA Name=Pol2-4H8,Pol2 Name=46 NA rs2305855 0.37 0.37 0.325 0.35004 0.4135 0.6161 0.3501 0.0446 0.4233 0.41 0.63 0.35 0.04 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.139896 2.139896 NA NA NA NA 0.348 NA 6.7531667 977 1 93306317 93306317 G A ncRNA_exonic SNORA66 NA NA NA ncRNA_exonic ENSG00000207523 NA NA NA Score=545;Name=lod=218 NA 1p22.1 Score=852;Name=V$RFX1_02 Name=Pol2-4H8 Name=3 NA rs10874744 0.68 0.68 0.676 0.691893 0.6223 0.9603 0.6902 0.4554 0.8078 0.63 0.95 0.63 0.47 0.677 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.997431 1.997431 NA 0.614264 0.466324 NA 0.543 NA 6.7531026 977 6 152489294 152489294 T C intronic SYNE1 NA NA NA exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000354674:exon1:c.A46G:p.S16G,ENSG00000131018:ENST00000539504:exon1:c.A46G:p.S16G Score=480;Name=lod=119 NA 6q25.1 NA NA NA NA rs998147 0.85 0.85 0.846 0.867013 0.7674 0.8889 0.8487 0.9455 0.8538 0.75 0.9 0.83 0.94 0.8278 0.94 0.66 T . . . . . . 0.000 P . . 4.66 T -0.952 T 0.001 T 0.023 -0.458 1.881 2.24 -0.056 -1.106 6.798 -0.45797 NA 0.65 0.819219 0.93271 NA 0.906 NA 6.7522477 977 11 130784647 130784647 G C exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon1:c.C1188G:p.D396E exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000265909:exon1:c.C1188G:p.D396E,ENSG00000120451:ENST00000533214:exon1:c.C1188G:p.D396E NA NA 11q24.3 NA NA NA NA rs1050081 0.14 0.14 0.146 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.21 0.17 0.1 0.05 0.1745 0.21 1 T 0.003 B 0.004 B 0.525 N 0.000 P 0.255 N 2.09 T -0.948 T 0.000 T 0.052 0.787 8.151 0.82 0.005 0.207 7.663 0.787417 NA 0.6 0.207936 0.071558 NA 0.21 NA 6.7520974 977 6 41029342 41029342 T C exonic APOBEC2 NA nonsynonymous SNV APOBEC2:NM_006789:exon2:c.T407C:p.I136T exonic ENSG00000124701 NA nonsynonymous SNV ENSG00000124701:ENST00000244669:exon2:c.T407C:p.I136T NA NA 6p21.1 NA NA NA NA rs2076472 0.17 0.17 0.144 0.177316 0.168 0.2679 0.2277 0.0068 0.2883 0.17 0.26 0.22 0.01 0.2106 0.26 0.06 T 0.0 B 0.002 B 0.214 N 1.000 P 0 N 0.79 T -1.058 T 0.025 T 0.071 1.063 9.339 1.37 0.320 0.274 5.875 1.062585 NA 0 0.20314 0.040399 NA 0.072 NA 6.7515934 977 19 49542078 49542078 A G intergenic SNAR-G1,CGB5 dist=1674;dist=5024 NA NA ncRNA_exonic ENSG00000267685 NA NA NA Score=579;Name=lod=302 NA 19q13.33 NA Name=BCL3,JunD,FOSL2,c-Jun,GR,FOSL1_(SC-183) Name=77 NA rs4002456 0.2 0.2 0.173 0.19988 0.2505 0.128 0.3069 0.121 0.2526 0.24 0.14 0.28 0.15 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.396596 NA NA NA NA NA 0.283 NA 6.7495 977 9 87285595 87285595 C G UTR5 NTRK2 NM_001018064:c.-69C>G,NM_006180:c.-69C>G,NM_001018065:c.-69C>G,NM_001018066:c.-69C>G,NM_001007097:c.-69C>G NA NA UTR5 ENSG00000148053 ENST00000376213:c.-69C>G,ENST00000376214:c.-69C>G,ENST00000395882:c.-69C>G,ENST00000277120:c.-69C>G,ENST00000304053:c.-69C>G,ENST00000376208:c.-69C>G,ENST00000323115:c.-69C>G,ENST00000359847:c.-69C>G NA NA NA NA 9q21.33 Score=965;Name=V$MZF1_01 Name=Rad21 Name=8 NA rs1187325 0.52 0.52 0.468 0.495807 0.5845 0.5764 0.5663 0.2731 0.5726 0.59 0.59 0.55 0.28 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969063 NA NA NA NA NA 0.435 NA 6.7488334 977 17 7099811 7099811 G A exonic DLG4 NA synonymous SNV DLG4:NM_001128827:exon10:c.C1158T:p.I386I,DLG4:NM_001365:exon12:c.C1296T:p.I432I exonic ENSG00000132535 NA synonymous SNV ENSG00000132535:ENST00000302955:exon10:c.C1158T:p.I386I,ENSG00000132535:ENST00000399506:exon10:c.C1167T:p.I389I,ENSG00000132535:ENST00000399510:exon12:c.C1296T:p.I432I Score=521;Name=lod=175 NA 17p13.1 Score=837;Name=V$CDP_02 NA NA NA rs17203281 0.26 0.26 0.253 0.246006 0.331 0.3155 0.2349 0.1831 0.18 0.31 0.29 0.25 0.16 0.282 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064251 NA NA 0.305589 0.186753 NA 0.232 NA 6.7480776 977 14 93118669 93118669 G A exonic RIN3 NA synonymous SNV RIN3:NM_024832:exon6:c.G1275A:p.T425T exonic ENSG00000100599 NA synonymous SNV ENSG00000100599:ENST00000216487:exon6:c.G1275A:p.T425T NA NA 14q32.12 NA Name=Pol2,EBF Name=14 NA rs3742716 0.28 0.28 0.254 0.238419 0.2883 0.4494 0.2594 0.0295 0.2372 0.3 0.48 0.27 0.03 0.3126 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.189202 NA NA 0.318372 0.074898 ID=COSM1563046;OCCURENCE=1(large_intestine) 0.333 NA 6.7473946 977 7 106513011 106513011 C T exonic PIK3CG NA synonymous SNV PIK3CG:NM_002649:exon3:c.C2025T:p.S675S exonic ENSG00000105851 NA synonymous SNV ENSG00000105851:ENST00000359195:exon3:c.C2025T:p.S675S,ENSG00000105851:ENST00000440650:exon3:c.C2025T:p.S675S,ENSG00000105851:ENST00000496166:exon3:c.C2025T:p.S675S Score=621;Name=lod=445 NA 7q22.3 NA NA Name=3 NA rs1129293 0.26 0.26 0.221 0.253794 0.3141 0.2897 0.428 0.0787 0.2679 0.32 0.28 0.36 0.07 0.3104 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.354677 1.354677 NA 0.295 0.129369 NA 0.167 NA 6.7471666 977 1 10596341 10596341 C T exonic PEX14 NA synonymous SNV PEX14:NM_004565:exon3:c.C156T:p.F52F exonic ENSG00000142655 NA synonymous SNV ENSG00000142655:ENST00000356607:exon3:c.C156T:p.F52F,ENSG00000142655:ENST00000491661:exon3:c.C141T:p.F47F Score=547;Name=lod=222 NA 1p36.22 NA Name=CTCF NA NA rs12375 0.23 0.23 0.186 0.228035 0.3141 0.2004 0.4265 0.0658 0.2464 0.3 0.19 0.39 0.05 0.2843 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.314263 1.314263 NA 0.322093 0.107127 NA 0.239 NA 6.7461736 978 10 81841692 81841692 G T exonic TMEM254 NA nonsynonymous SNV TMEM254:NM_001270371:exon3:c.G278T:p.C93F,TMEM254:NM_001270374:exon3:c.G203T:p.C68F exonic ENSG00000133678 NA synonymous SNV ENSG00000133678:ENST00000372274:exon2:c.G183T:p.L61L,ENSG00000133678:ENST00000372275:exon2:c.G183T:p.L61L,ENSG00000133678:ENST00000372277:exon2:c.G183T:p.L61L,ENSG00000133678:ENST00000372281:exon2:c.G183T:p.L61L NA NA 10q22.3 Score=688;Name=V$BRACH_01 NA NA NA rs1932574 0.42 0.42 0.405 0.421126 0.4125 0.6865 0.3372 0.2345 0.4683 0.41 0.68 0.33 0.21 0.4152 0.68 . . . . . . . . 1.000 P . . . . -0.959 T 0.000 T . -0.015 3.937 1.28 0.318 -0.437 8.531 -0.014996 NA NA 0.427674 0.26759 NA 0.312 NA 6.744626 978 12 56089357 56089357 C T exonic ITGA7 NA nonsynonymous SNV ITGA7:NM_001144996:exon14:c.G1964A:p.R655H,ITGA7:NM_001144997:exon14:c.G1673A:p.R558H,ITGA7:NM_002206:exon14:c.G1952A:p.R651H exonic ENSG00000135424 NA nonsynonymous SNV ENSG00000135424:ENST00000257879:exon14:c.G1952A:p.R651H,ENSG00000135424:ENST00000347027:exon14:c.G1934A:p.R645H,ENSG00000135424:ENST00000394229:exon14:c.G1952A:p.R651H,ENSG00000135424:ENST00000394230:exon14:c.G1964A:p.R655H,ENSG00000135424:ENST00000452168:exon14:c.G1673A:p.R558H,ENSG00000135424:ENST00000553804:exon14:c.G1964A:p.R655H,ENSG00000135424:ENST00000257880:exon15:c.G2084A:p.R695H,ENSG00000135424:ENST00000555728:exon15:c.G2084A:p.R695H NA NA 12q13.2 NA NA NA NA rs1800974 0.59 0.59 0.54 0.599441 0.495 0.9306 0.621 0.3094 0.7423 0.51 0.92 0.58 0.33 0.5854 0.92 0.53 T 0.001 B 0.002 B 0.573 N 1.000 P 0.425 N 0.84 T -1.002 T 0.000 T 0.246 1.14 9.646 -0.706 -0.033 0.204 9.220 1.140294 NA 0.28 0.508488 0.339764 NA 0.514 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079979.2;CLNDSDB=.;CLNDSDBID=. 6.7444454 978 11 60703260 60703260 A G intronic TMEM132A NA NA NA UTR3 ENSG00000006118 ENST00000540112:c.*318A>G NA NA Score=574;Name=lod=286 NA 11q12.2 NA Name=Pol2,Pol2-4H8 Name=4 NA rs525574 0.41 0.41 0.424 0.421925 0.4225 0.3165 0.4467 0.4728 0.4438 0.42 0.32 0.45 0.47 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.346119 4.346119 NA NA NA NA 0.493 NA 6.7441667 978 5 153429459 153429459 T C exonic MFAP3 NA synonymous SNV MFAP3:NM_001242336:exon2:c.T177C:p.D59D,MFAP3:NM_005927:exon2:c.T177C:p.D59D exonic ENSG00000037749 NA synonymous SNV ENSG00000037749:ENST00000322602:exon2:c.T177C:p.D59D,ENSG00000037749:ENST00000436816:exon2:c.T177C:p.D59D,ENSG00000037749:ENST00000522177:exon2:c.T177C:p.D59D,ENSG00000037749:ENST00000522782:exon2:c.T177C:p.D59D Score=489;Name=lod=130 NA 5q33.2 NA Name=c-Jun,JunD Name=7 NA rs690592 0.7 0.7 0.686 0.715056 0.6272 0.8581 0.7147 0.6203 0.7863 0.64 0.86 0.67 0.61 0.6743 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787512 NA NA 0.622209 0.647753 NA 0.674 NA 6.7429576 978 11 49059362 49059362 C A exonic TRIM49B NA nonsynonymous SNV TRIM49B:NM_001206626:exon6:c.C1192A:p.L398M exonic ENSG00000182053 NA nonsynonymous SNV ENSG00000182053:ENST00000332682:exon7:c.C1192A:p.L398M NA NA 11p11.12 NA NA NA NA rs2696914 0.76 0.76 0.756 0.723043 0.8221 0.6022 0.7579 0.882 0.5061 0.79 0.62 0.77 0.85 0.7686 0.85 0.16 T . . . . . . 1.000 P 0.595 N -0.38 T -0.903 T 0.000 T 0.117 -2.117 0.006 -1.38 -3.904 -2.242 . -2.11674 NA 0.32 NA NA NA 0.79 NA 6.7426334 978 12 121471337 121471337 G A exonic OASL NA synonymous SNV OASL:NM_001261825:exon2:c.C408T:p.L136L,OASL:NM_003733:exon2:c.C408T:p.L136L,OASL:NM_198213:exon2:c.C408T:p.L136L exonic ENSG00000135114 NA synonymous SNV ENSG00000135114:ENST00000257570:exon2:c.C408T:p.L136L,ENSG00000135114:ENST00000339275:exon2:c.C408T:p.L136L NA Name=Cardiovascular disease risk factors 12q24.31 Score=744;Name=V$EVI1_01 NA NA NA rs3213545 0.31 0.31 0.284 0.313099 0.3072 0.4692 0.2839 0.1293 0.4274 0.3 0.49 0.3 0.13 0.3163 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210666 NA NA 0.300581 0.146391 NA 0.239 NA 6.7425856 978 12 32764184 32764184 G A exonic FGD4 NA synonymous SNV FGD4:NM_139241:exon10:c.G1305A:p.R435R exonic ENSG00000139132 NA synonymous SNV ENSG00000139132:ENST00000381025:exon6:c.G561A:p.R187R,ENSG00000139132:ENST00000546442:exon9:c.G1026A:p.R342R,ENSG00000139132:ENST00000427716:exon10:c.G1305A:p.R435R,ENSG00000139132:ENST00000525053:exon10:c.G1641A:p.R547R,ENSG00000139132:ENST00000531134:exon10:c.G1560A:p.R520R,ENSG00000139132:ENST00000534526:exon10:c.G1716A:p.R572R,ENSG00000139132:ENST00000266482:exon11:c.G561A:p.R187R Score=621;Name=lod=446 NA 12p11.21 Score=799;Name=V$XBP1_01 NA NA NA rs10844253 0.24 0.24 0.251 0.265176 0.3161 0.1657 0.2781 0.2027 0.3906 0.31 0.18 0.26 0.21 0.2955 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120513 NA NA 0.312907 0.238084 NA 0.181 NA 6.7421596 978 1 29475648 29475648 T G exonic SRSF4 NA nonsynonymous SNV SRSF4:NM_005626:exon6:c.A759C:p.E253D exonic ENSG00000116350 NA nonsynonymous SNV ENSG00000116350:ENST00000546138:exon4:c.A454C:p.K152Q,ENSG00000116350:ENST00000373795:exon6:c.A759C:p.E253D NA NA 1p35.3 NA NA NA NA rs2230679 0.74 0.74 0.684 0.720248 0.8817 0.5635 0.745 0.7231 0.6943 0.88 0.54 0.78 0.73 0.8179 0.89 0.87 T 0.0 B 0.0 B 0.005 N 1.000 P -0.255 N 2.58 T -0.959 T 0.000 T 0.023 0.86 8.48 -3.25 -0.452 -1.716 1.100 0.859665 NA 0.76 0.891628 0.766682 NA 0.739 NA 6.7421054 978 3 156880573 156880573 T C intergenic CCNL1,VEPH1 dist=2091;dist=96959 NA NA ncRNA_exonic ENSG00000244515 NA NA NA Score=544;Name=lod=216 NA 3q25.31 NA Name=CTCF_(SC-5916),NRSF,CTCF_(C-20),Rad21,CTCF Name=29 NA rs4608646 0.27 0.27 0.191 0.237819 0.2584 0.3333 0.4741 0.0628 0.1871 0.25 0.36 0.43 0.07 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364116 NA NA NA NA NA 0.167 NA 6.7416 978 3 156880587 156880587 A G intergenic CCNL1,VEPH1 dist=2105;dist=96945 NA NA ncRNA_exonic ENSG00000244515 NA NA NA Score=544;Name=lod=216 NA 3q25.31 NA Name=Rad21,CTCF_(C-20),CTCF,NRSF,CTCF_(SC-5916) Name=29 NA rs4383467 0.27 0.27 0.189 0.242412 0.2584 0.3333 0.4784 0.0794 0.1851 0.25 0.36 0.43 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363393 NA NA NA NA NA 0.167 NA 6.7416 978 3 39453160 39453160 G A exonic RPSA NA synonymous SNV RPSA:NM_001012321:exon4:c.G519A:p.L173L,RPSA:NM_002295:exon5:c.G519A:p.L173L exonic ENSG00000168028 NA synonymous SNV ENSG00000168028:ENST00000301821:exon5:c.G519A:p.L173L,ENSG00000168028:ENST00000443003:exon5:c.G534A:p.L178L,ENSG00000168028:ENST00000458478:exon5:c.G519A:p.L173L Score=549;Name=lod=228 NA 3p22.1 NA Name=Pol2(b) NA NA rs1803894 0.26 0.26 0.221 0.250799 0.3082 0.2778 0.3084 0.152 0.2566 0.3 0.28 0.3 0.14 0.2929 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230131 NA NA 0.324186 0.166364 NA 0.225 NA 6.7413806 978 10 5920121 5920121 T C exonic ANKRD16 NA nonsynonymous SNV ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R,ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R exonic ENSG00000134461 NA nonsynonymous SNV ENSG00000134461:ENST00000380092:exon7:c.A1058G:p.Q353R,ENSG00000134461:ENST00000380094:exon7:c.A1058G:p.Q353R Score=321;Name=lod=27 NA 10p15.1 NA NA NA NA rs1052420 0.84 0.84 0.808 0.803914 0.8638 0.8472 0.9135 0.6853 0.7802 0.87 0.84 0.92 0.71 0.8524 0.92 0.23 T 0.001 B 0.002 B 0.166 N 0.000 P 0.205 N -0.13 T -1.014 T 0.000 T 0.054 1.415 10.67 3.83 0.731 -0.027 9.631 1.415149 1.415149 0.2 0.87593 0.715388 NA 0.804 NA 6.7412034 978 12 13764774 13764774 G A exonic GRIN2B NA synonymous SNV GRIN2B:NM_000834:exon8:c.C1665T:p.S555S exonic ENSG00000150086 NA synonymous SNV ENSG00000150086:ENST00000279593:exon8:c.C1665T:p.S555S NA NA 12p13.1 Score=890;Name=V$ATF_01 NA NA NA rs1805482 0.22 0.22 0.201 0.190096 0.33 0.0089 0.3718 0.1536 0.1534 0.33 0.01 0.39 0.15 0.2647 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020054 NA NA 0.334186 0.174535 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117191.2;CLNDSDB=.;CLNDSDBID=. 6.7377806 978 19 35449409 35449409 G A exonic ZNF792 NA synonymous SNV ZNF792:NM_175872:exon4:c.C1350T:p.H450H exonic ENSG00000180884 NA synonymous SNV ENSG00000180884:ENST00000605484:exon2:c.C1149T:p.H383H,ENSG00000180884:ENST00000404801:exon4:c.C1350T:p.H450H NA NA 19q13.11 NA Name=KAP1,SETDB1 Name=12 NA rs2651081 0.31 0.31 0.352 0.327276 0.329 0.2034 0.1859 0.4841 0.3415 0.34 0.21 0.22 0.46 0.3063 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.717627 NA NA 0.296047 0.443259 ID=COSM148589;OCCURENCE=1(stomach) 0.261 NA 6.7353196 979 17 38955961 38955961 G A exonic KRT28 NA nonsynonymous SNV KRT28:NM_181535:exon1:c.C185T:p.A62V exonic ENSG00000173908 NA nonsynonymous SNV ENSG00000173908:ENST00000306658:exon1:c.C185T:p.A62V NA NA 17q21.2 NA NA NA NA rs4624233 0.27 0.27 0.263 0.292532 0.1938 0.4077 0.134 0.2958 0.3834 0.19 0.4 0.16 0.3 0.2203 0.4 0.5 T 0.0 B 0.005 B 0.706 N 1.000 P 0.69 N -0.97 T -0.994 T 0.000 T 0.078 0.276 5.492 1.35 0.623 -0.548 5.845 0.275848 NA NA 0.185581 0.289832 NA 0.333 NA 6.7336524 979 7 25267934 25267934 T C exonic NPVF NA nonsynonymous SNV NPVF:NM_022150:exon1:c.A125G:p.D42G exonic ENSG00000105954 NA nonsynonymous SNV ENSG00000105954:ENST00000222674:exon1:c.A125G:p.D42G NA NA 7p15.3 NA NA NA NA rs877834 0.26 0.26 0.244 0.247204 0.1849 0.5129 0.2594 0.0908 0.2403 0.19 0.51 0.25 0.09 0.2319 0.51 0.21 T 0.004 B 0.006 B 0.108 N 1.000 P 1.71 L 1.51 T -0.940 T 0.000 T 0.048 0.782 8.124 0.266 0.085 0.069 4.437 0.781553 NA 0.33 0.183493 0.109595 NA 0.254 NA 6.7330404 979 11 17526256 17526256 A G intronic USH1C NA NA NA intronic ENSG00000006611 NA NA NA NA NA 11p15.1 NA Name=CTCF,Rad21,SMC3_(ab9263),YY1_(C-20),Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916) Name=140 NA rs76769358 0.03 0.03 0.016 0.0261581 0.0596 NA 0.0432 0.0008 0.0409 0.06 NA 0.07 NA 0.1344 0.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813201 NA NA 0.073142 0.015 NA 0.08 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041265.1|RCV000126232.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.732858 979 2 74900588 74900588 G T exonic SEMA4F NA synonymous SNV SEMA4F:NM_001271662:exon5:c.G456T:p.G152G,SEMA4F:NM_004263:exon6:c.G555T:p.G185G exonic ENSG00000135622 NA nonsynonymous SNV ENSG00000135622:ENST00000446927:exon4:c.G362T:p.G121V,ENSG00000135622:ENST00000420077:exon5:c.G461T:p.G154V NA NA 2p13.1 Score=930;Name=V$ZIC1_01 NA NA NA rs34617503 0.07 0.07 0.072 0.0700879 0.0895 0.0933 0.0591 0.0363 0.0798 0.1 0.09 0.06 0.02 0.0837 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.408873 NA 0.6 0.094767 0.046527 NA 0.087 NA 6.732033 979 3 171395468 171395468 A G exonic PLD1 NA synonymous SNV PLD1:NM_001130081:exon16:c.T1770C:p.R590R,PLD1:NM_002662:exon17:c.T1884C:p.R628R exonic ENSG00000075651 NA nonsynonymous SNV ENSG00000075651:ENST00000342215:exon15:c.T1556C:p.V519A Score=429;Name=lod=74 NA 3q26.31 NA NA NA NA rs2124147 0.46 0.46 0.455 0.464657 0.3926 0.3234 0.4597 0.7269 0.3333 0.4 0.3 0.42 0.78 0.4467 0.78 0.92 T . . . . . . 0.000 P . . 1.53 T -0.972 T 0.000 T . 1.216 9.936 0.511 -0.056 0.739 3.719 1.216235 NA 0.09 0.42907 0.667272 NA 0.464 NA 6.73163 979 17 46939658 46939658 C G exonic CALCOCO2 NA nonsynonymous SNV CALCOCO2:NM_001261393:exon11:c.C1039G:p.P347A,CALCOCO2:NM_001261395:exon11:c.C949G:p.P317A,CALCOCO2:NM_005831:exon12:c.C1165G:p.P389A,CALCOCO2:NM_001261390:exon13:c.C1237G:p.P413A,CALCOCO2:NM_001261391:exon13:c.C1228G:p.P410A exonic ENSG00000136436 NA nonsynonymous SNV ENSG00000136436:ENST00000416445:exon11:c.C1039G:p.P347A,ENSG00000136436:ENST00000508679:exon11:c.C949G:p.P317A,ENSG00000136436:ENST00000258947:exon12:c.C1165G:p.P389A,ENSG00000136436:ENST00000448105:exon13:c.C1237G:p.P413A,ENSG00000136436:ENST00000509507:exon13:c.C1228G:p.P410A NA NA 17q21.32 NA NA NA NA rs10278 0.28 0.28 0.24 NA NA NA NA NA NA 0.27 0.16 0.43 0.32 0.2993 0.43 0.23 T 0.012 B 0.006 B 0.190 N 1.000 P 1.795 L 2.74 T -0.993 T 0.000 T 0.066 2.161 13.18 -0.674 -0.118 0.019 4.560 2.161292 2.161292 0.13 0.302442 0.334771 NA 0.37 NA 6.7315914 979 1 115604798 115604798 C T exonic TSPAN2 NA synonymous SNV TSPAN2:NM_005725:exon3:c.G228A:p.G76G exonic ENSG00000134198 NA synonymous SNV ENSG00000134198:ENST00000369514:exon3:c.G228A:p.G76G,ENSG00000134198:ENST00000369515:exon3:c.G228A:p.G76G,ENSG00000134198:ENST00000369516:exon3:c.G228A:p.G76G,ENSG00000134198:ENST00000433172:exon3:c.G210A:p.G70G NA NA 1p13.2 Score=813;Name=V$RREB1_01 Name=CTCF NA NA rs10776795 0.34 0.34 0.302 0.320088 0.3012 0.4921 0.3343 0.3018 0.1769 0.28 0.46 0.36 0.3 0.3422 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.254893 1.254893 NA 0.292297 0.293236 ID=COSM423531;OCCURENCE=1(breast) 0.341 NA 6.7309696 979 21 46086457 46086457 G A exonic KRTAP12-2 NA nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.C347T:p.A116V exonic ENSG00000221864 NA nonsynonymous SNV ENSG00000221864:ENST00000360770:exon1:c.C347T:p.A116V NA NA 21q22.3 NA NA NA NA rs12483730 0.15 0.15 0.136 0.144369 0.2078 0.0923 0.1657 0.0877 0.1943 0.21 0.1 0.17 0.09 0.1899 0.21 0.32 T 0.006 B 0.001 B . . 0.231 P -1.42 N 4.1 T -0.934 T 0.000 T 0.04 -0.817 0.632 0.394 0.175 0.492 4.421 -0.816857 NA NA 0.204908 0.089294 NA 0.051 NA 6.7307254 979 2 232196564 232196564 C T exonic ARMC9 NA synonymous SNV ARMC9:NM_025139:exon20:c.C1833T:p.L611L exonic ENSG00000135931 NA synonymous SNV ENSG00000135931:ENST00000349938:exon20:c.C1833T:p.L611L Score=545;Name=lod=218 NA 2q37.1 Score=822;Name=V$MEIS1AHOXA9_01 NA NA NA rs1669083 0.27 0.27 0.264 0.26238 0.3241 0.2212 0.3084 0.211 0.2781 0.34 0.21 0.27 0.23 0.3034 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210701 NA NA 0.308721 0.217204 ID=COSM149094,COSM149095;OCCURENCE=1(stomach) 0.355 NA 6.7304456 979 2 48025764 48025764 C T exonic MSH6 NA synonymous SNV MSH6:NM_000179:exon4:c.C642T:p.Y214Y exonic ENSG00000116062 NA nonsynonymous SNV ENSG00000116062:ENST00000445503:exon3:c.C472T:p.R158C NA NA 2p16.3 NA NA NA NA rs1800937 0.05 0.05 0.038 0.0285543 0.1034 NA 0.0432 0.0038 0.0041 0.11 NA 0.07 0.0041 0.0735 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.799294 NA 0 0.09314 0.022242 NA 0.022 CLINSIG=pathogenic;CLNDBN=Lynch_syndrome,Lynch_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp,exp|mult|single;CLNACC=RCV000075015.1,RCV000030277.2|RCV000035327.2|RCV000132355.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT,GeneReviews:MedGen:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005,NBK1211:C0009405:315058005|.|C0027672 6.72996 979 X 2832742 2832742 G C intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs211648 0.76 0.76 NA NA NA NA NA NA NA 0.6 0.91 0.75 0.87 0.6451 0.91 0.03 D 0.0 B 0.0 B . . 1.000 P . . . . -1.020 T 0.000 T . -0.938 0.363 -1.99 -1.546 -2.106 3.575 -0.938272 NA 0.84 0.625297 0.858149 NA 0.522 NA 6.729603 979 2 233757679 233757679 G A exonic NGEF NA synonymous SNV NGEF:NM_001114090:exon5:c.C795T:p.A265A,NGEF:NM_019850:exon7:c.C1071T:p.A357A exonic ENSG00000066248 NA synonymous SNV ENSG00000066248:ENST00000416114:exon3:c.C240T:p.A80A,ENSG00000066248:ENST00000458735:exon3:c.C240T:p.A80A,ENSG00000066248:ENST00000539537:exon3:c.C240T:p.A80A,ENSG00000066248:ENST00000373552:exon5:c.C795T:p.A265A,ENSG00000066248:ENST00000264051:exon7:c.C1071T:p.A357A NA NA 2q37.1 NA NA NA NA rs748002 0.34 0.34 0.346 0.300319 0.326 0.3492 0.3963 0.2791 0.184 0.33 0.39 0.37 0.27 0.3096 0.39 . . . . . . . . 1.000 P . . . . . . . . . -0.294 2.595 3.46 0.597 -0.253 5.397 -0.294311 NA NA 0.302674 0.285974 ID=COSM442488,COSM1482873;OCCURENCE=1(breast) 0.188 NA 6.7283926 979 21 46086407 46086407 C T exonic KRTAP12-2 NA nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.G397A:p.V133I exonic ENSG00000221864 NA nonsynonymous SNV ENSG00000221864:ENST00000360770:exon1:c.G397A:p.V133I NA NA 21q22.3 NA NA NA NA rs12481809 0.15 0.15 0.142 0.145966 0.2068 0.0923 0.1657 0.0946 0.1943 0.21 0.1 0.17 0.09 0.1938 0.21 0.36 T 0.262 B 0.044 B . . 1.000 P 1.24 L 4.21 T -0.917 T 0.000 T 0.014 -0.257 2.766 1.54 0.697 0.296 5.772 -0.25671 NA NA 0.204486 0.093503 NA 0.058 NA 6.7282474 979 12 6575044 6575044 G T exonic VAMP1 NA synonymous SNV VAMP1:NM_014231:exon3:c.C252A:p.A84A,VAMP1:NM_016830:exon3:c.C252A:p.A84A,VAMP1:NM_199245:exon3:c.C252A:p.A84A exonic ENSG00000139190 NA synonymous SNV ENSG00000139190:ENST00000361716:exon3:c.C252A:p.A84A,ENSG00000139190:ENST00000396308:exon3:c.C252A:p.A84A,ENSG00000139190:ENST00000400911:exon3:c.C252A:p.A84A,ENSG00000139190:ENST00000535180:exon3:c.C252A:p.A84A Score=628;Name=lod=475 NA 12p13.31 NA Name=NFKB NA NA rs2072375 0.28 0.28 0.278 0.272364 0.3241 0.3284 0.1859 0.2095 0.3078 0.32 0.33 0.2 0.21 0.2936 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.051745 2.051745 NA 0.320814 0.201089 NA 0.232 NA 6.7281526 979 1 43779564 43779564 T C exonic TIE1 NA synonymous SNV TIE1:NM_001253357:exon14:c.T2199C:p.A733A,TIE1:NM_005424:exon14:c.T2334C:p.A778A exonic ENSG00000066056 NA synonymous SNV ENSG00000066056:ENST00000433781:exon9:c.T1269C:p.A423A,ENSG00000066056:ENST00000372476:exon14:c.T2334C:p.A778A NA NA 1p34.2 Score=876;Name=V$YY1_01 Name=c-Myc Name=5 NA rs3120276 0.75 0.75 0.738 0.803115 0.6272 0.879 0.6427 0.8911 0.9008 0.62 0.87 0.64 0.88 0.6994 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282717 NA NA 0.611977 0.849977 NA 0.667 NA 6.7280896 979 2 64327592 64327592 T C exonic PELI1 NA synonymous SNV PELI1:NM_020651:exon4:c.A243G:p.L81L exonic ENSG00000197329 NA synonymous SNV ENSG00000197329:ENST00000358912:exon4:c.A243G:p.L81L Score=633;Name=lod=500 NA 2p14 Score=876;Name=V$NKX3A_01 NA NA NA rs329497 0.37 0.37 0.339 0.35024 0.2992 0.752 0.3112 0.0688 0.3967 0.3 0.73 0.35 0.06 0.3352 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.403398 1.403398 NA 0.304302 0.121425 NA 0.326 NA 6.7279646 979 3 170214459 170214459 G T intronic SLC7A14 NA NA NA intronic ENSG00000013293,ENSG00000013297 NA NA NA Score=646;Name=lod=565 NA 3q26.2 NA Name=CTCF,Rad21,CTCF_(SC-5916) Name=3 NA rs2008829 0.35 0.35 0.354 0.382188 0.2724 0.1875 0.3343 0.7254 0.2658 0.27 0.18 0.33 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594607 NA NA NA NA NA 0.326 NA 6.7276 979 7 102112980 102112980 G A exonic LRWD1 NA synonymous SNV LRWD1:NM_152892:exon13:c.G1614A:p.T538T exonic ENSG00000161036 NA synonymous SNV ENSG00000161036:ENST00000292616:exon13:c.G1614A:p.T538T NA NA 7q22.1 NA NA NA NA rs3800987 0.51 0.51 0.497 0.461661 0.662 0.372 0.5519 0.3139 0.4836 0.66 0.4 0.59 0.35 0.6329 0.66 . . . . . . . . 1.000 P . . . . -1.039 T 0.000 T . -1.162 0.094 -10.2 -3.315 -7.784 4.671 -1.16208 NA NA 0.644335 0.358621 ID=COSM452074;OCCURENCE=1(breast) 0.587 NA 6.7274316 979 6 31079643 31079643 T C exonic C6orf15 NA nonsynonymous SNV C6orf15:NM_014070:exon2:c.A493G:p.K165E exonic ENSG00000204542 NA nonsynonymous SNV ENSG00000204542:ENST00000259870:exon2:c.A493G:p.K165E NA NA 6p21.33 NA NA NA NA rs1265054 0.52 0.52 0.499 0.531949 0.5149 0.4871 0.5663 0.5461 0.5521 0.5 0.47 0.57 0.56 0.5371 0.58 1 T 0.0 B 0.0 B 0.466 N 1.000 P -1.175 N 3.56 T -0.928 T 0.001 T 0.022 -1.014 0.241 2.48 0.110 -0.109 6.228 -1.013881 NA 1 0.555037 0.577243 NA 0.471 NA 6.7262964 980 7 112097121 112097121 C T intronic IFRD1 NA NA NA exonic ENSG00000006652 NA nonsynonymous SNV ENSG00000006652:ENST00000429071:exon4:c.C437T:p.T146M NA NA 7q31.1 NA NA Name=2 NA rs6968084 0.17 0.17 0.161 0.208267 0.1272 0.1597 0.1974 0.2254 0.3262 0.13 0.16 0.2 0.23 0.1767 0.23 . . 0.058 B 0.01 B . . 1.000 P . . . . -0.989 T 0.000 T 0.037 0.377 6.044 -1.25 -0.379 -0.144 4.205 0.376531 NA 0 0.138256 0.201089 NA 0.21 NA 6.7245107 980 3 136088038 136088038 G A exonic STAG1 NA synonymous SNV STAG1:NM_005862:exon24:c.C2457T:p.F819F exonic ENSG00000118007 NA synonymous SNV ENSG00000118007:ENST00000536929:exon13:c.C1209T:p.F403F,ENSG00000118007:ENST00000236698:exon24:c.C2457T:p.F819F,ENSG00000118007:ENST00000383202:exon24:c.C2457T:p.F819F,ENSG00000118007:ENST00000434713:exon27:c.C1779T:p.F593F Score=723;Name=lod=1153 NA 3q22.3 Score=821;Name=V$CDC5_01 NA NA NA rs9860801 0.27 0.27 0.273 0.302915 0.3022 0.0585 0.2017 0.5522 0.2904 0.3 0.04 0.23 0.54 0.3106 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976256 NA NA 0.329767 0.520881 NA 0.348 NA 6.7240996 980 15 89421327 89421327 A G exonic HAPLN3 NA synonymous SNV HAPLN3:NM_178232:exon5:c.T957C:p.G319G exonic ENSG00000140511 NA synonymous SNV ENSG00000140511:ENST00000359595:exon5:c.T957C:p.G319G,ENSG00000140511:ENST00000562889:exon6:c.T1143C:p.G381G Score=533;Name=lod=196 NA 15q26.1 Score=792;Name=V$MYOGNF1_01 NA NA NA rs2280463 0.39 0.39 0.424 0.437899 0.2932 0.256 0.3228 0.8139 0.3476 0.28 0.24 0.36 0.78 0.3399 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253226 1.253226 NA 0.309956 0.7475 NA 0.536 NA 6.7236106 980 8 101206391 101206391 G A exonic SPAG1 NA nonsynonymous SNV SPAG1:NM_003114:exon10:c.G991A:p.E331K,SPAG1:NM_172218:exon10:c.G991A:p.E331K exonic ENSG00000104450 NA nonsynonymous SNV ENSG00000104450:ENST00000251809:exon10:c.G991A:p.E331K,ENSG00000104450:ENST00000388798:exon10:c.G991A:p.E331K,ENSG00000104450:ENST00000520508:exon10:c.G991A:p.E331K,ENSG00000104450:ENST00000520643:exon10:c.G991A:p.E331K NA NA 8q22.2 NA NA NA NA rs17335870 0.15 0.15 0.103 0.150559 0.2117 0.0734 0.2392 0.0537 0.2352 0.21 0.07 0.25 0.07 0.1986 0.25 0.79 T 0.0 B 0.0 B 0.074 N 1.000 P -1.245 N -0.79 T -1.069 T 0.000 T 0.035 -1.3 0.037 -1.58 -0.498 0.387 7.684 -1.299519 NA 0.53 0.2 0.075579 NA 0.13 NA 6.7230334 980 9 5774225 5774225 T G exonic KIAA1432 NA synonymous SNV KIAA1432:NM_001206557:exon25:c.T4140G:p.T1380T,KIAA1432:NM_020829:exon26:c.T4251G:p.T1417T exonic ENSG00000107036 NA synonymous SNV ENSG00000107036:ENST00000449720:exon24:c.T3903G:p.T1301T,ENSG00000107036:ENST00000418622:exon25:c.T4014G:p.T1338T,ENSG00000107036:ENST00000414202:exon26:c.T4251G:p.T1417T Score=504;Name=lod=149 NA 9p24.1 NA NA NA NA rs3739648 0.34 0.34 0.302 0.331869 0.2853 0.5853 0.2968 0.1233 0.4254 0.3 0.61 0.31 0.1 0.3517 0.61 . . . . . . . . 0.000 P . . . . -0.909 T 0.000 T . 0.374 6.032 0.353 0.127 0.146 10.508 0.374309 NA NA 0.30686 0.138448 NA 0.312 NA 6.7228066 980 21 19169218 19169218 G C exonic C21orf91 NA nonsynonymous SNV C21orf91:NM_001100420:exon3:c.C345G:p.N115K,C21orf91:NM_001100421:exon3:c.C345G:p.N115K,C21orf91:NM_017447:exon3:c.C345G:p.N115K exonic ENSG00000154642 NA nonsynonymous SNV ENSG00000154642:ENST00000284881:exon3:c.C345G:p.N115K,ENSG00000154642:ENST00000400558:exon3:c.C345G:p.N115K,ENSG00000154642:ENST00000400559:exon3:c.C345G:p.N115K,ENSG00000154642:ENST00000405964:exon3:c.C345G:p.N115K NA NA 21q21.1 NA NA NA NA rs2824495 0.25 0.25 0.256 0.244609 0.1918 0.3978 0.2435 0.2027 0.1984 0.2 0.38 0.22 0.21 0.2168 0.38 . . 0.001 B 0.002 B 0.377 N 1.000 P 1.245 L 2.61 T -0.914 T 0.000 T 0.055 -0.435 1.977 0.945 0.020 0.565 4.979 -0.435132 NA 0.1 0.202372 0.214404 NA 0.333 NA 6.7223614 980 20 60503350 60503350 A G exonic CDH4 NA nonsynonymous SNV CDH4:NM_001252338:exon11:c.A1763G:p.K588R,CDH4:NM_001252339:exon11:c.A1652G:p.K551R,CDH4:NM_001794:exon12:c.A1874G:p.K625R exonic ENSG00000179242 NA nonsynonymous SNV ENSG00000179242:ENST00000543233:exon11:c.A1652G:p.K551R,ENSG00000179242:ENST00000360469:exon12:c.A1874G:p.K625R NA NA 20q13.33 NA NA NA NA rs6142884 0.56 0.56 0.533 0.567292 0.5239 0.8413 0.5793 0.2504 0.7495 0.53 0.85 0.57 0.26 0.5724 0.85 . . 0.0 B 0.001 B 0.004 N 0.999 P -0.98 N 0.18 T -0.973 T 0.000 T 0.086 -1.999 0.007 -2.0 -0.818 0.395 12.486 -1.998776 NA 1 0.515581 0.31616 NA 0.529 NA 6.7214524 980 5 34840841 34840841 A G exonic TTC23L NA nonsynonymous SNV TTC23L:NM_144725:exon2:c.A65G:p.H22R exonic ENSG00000205838 NA nonsynonymous SNV ENSG00000205838:ENST00000502674:exon1:c.A65G:p.H22R,ENSG00000205838:ENST00000505624:exon2:c.A65G:p.H22R,ENSG00000205838:ENST00000508722:exon2:c.A65G:p.H22R NA NA 5p13.2 NA NA NA NA rs6451173 0.53 0.53 0.547 0.53774 0.5457 0.256 0.4121 0.8986 0.4213 0.56 0.26 0.45 0.87 0.5281 0.87 0.95 T 0.0 B 0.002 B 0.812 N 1.000 P 1.95 M 2.69 T -0.912 T 0.000 T 0.029 -0.853 0.541 -1.25 -0.345 0.234 5.621 -0.853436 NA 0.53 0.539628 0.858981 NA 0.565 NA 6.7199054 980 3 191075902 191075902 C T exonic CCDC50 NA synonymous SNV CCDC50:NM_174908:exon3:c.C228T:p.R76R,CCDC50:NM_178335:exon3:c.C228T:p.R76R exonic ENSG00000152492 NA synonymous SNV ENSG00000152492:ENST00000392455:exon3:c.C228T:p.R76R,ENSG00000152492:ENST00000392456:exon3:c.C228T:p.R76R Score=506;Name=lod=152 NA 3q28 NA NA NA NA rs11542549 0.29 0.29 0.266 0.267372 0.332 0.2579 0.3156 0.2322 0.2239 0.34 0.22 0.33 0.26 0.2973 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.366224 1.366224 NA 0.317907 0.25488 NA 0.21 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041443.1;CLNDSDB=.;CLNDSDBID=. 6.7194596 980 3 46399798 46399798 T C exonic CCR2 NA synonymous SNV CCR2:NM_001123041:exon2:c.T780C:p.N260N,CCR2:NM_001123396:exon2:c.T780C:p.N260N exonic ENSG00000121807 NA synonymous SNV ENSG00000121807:ENST00000400888:exon1:c.T780C:p.N260N,ENSG00000121807:ENST00000292301:exon2:c.T780C:p.N260N,ENSG00000121807:ENST00000445132:exon2:c.T780C:p.N260N Score=378;Name=lod=46 NA 3p21.31 NA Name=BATF NA NA rs1799865 0.32 0.32 0.313 0.328474 0.3072 0.3185 0.3415 0.3132 0.3722 0.3 0.32 0.35 0.33 0.3192 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.490143 NA NA 0.32105 0.34375 NA 0.232 NA 6.7192166 980 11 108383676 108383676 A G exonic EXPH5 NA nonsynonymous SNV EXPH5:NM_015065:exon6:c.T2558C:p.L853P exonic ENSG00000110723 NA nonsynonymous SNV ENSG00000110723:ENST00000443411:exon3:c.T1994C:p.L665P,ENSG00000110723:ENST00000533052:exon3:c.T1994C:p.L665P,ENSG00000110723:ENST00000265843:exon6:c.T2558C:p.L853P,ENSG00000110723:ENST00000428840:exon6:c.T2330C:p.L777P,ENSG00000110723:ENST00000526312:exon6:c.T2330C:p.L777P,ENSG00000110723:ENST00000525344:exon7:c.T2537C:p.L846P NA NA 11q22.3 NA NA NA NA rs10749920 0.3 0.3 0.32 0.358427 0.1909 0.2093 0.1844 0.6876 0.363 0.18 0.23 0.17 0.66 0.2379 0.66 0.96 T 0.0 B 0.0 B 0.964 N 1.000 P -0.55 N 4.39 T -0.979 T 0.000 T 0.415 -0.879 0.483 1.31 -0.133 -0.200 2.538 -0.879129 NA 0.43 0.185435 0.605861 NA 0.246 NA 6.7190984 980 11 123477352 123477352 G A exonic GRAMD1B NA synonymous SNV GRAMD1B:NM_020716:exon10:c.G930A:p.E310E exonic ENSG00000023171 NA synonymous SNV ENSG00000023171:ENST00000322282:exon10:c.G930A:p.E310E,ENSG00000023171:ENST00000529432:exon10:c.G810A:p.E270E,ENSG00000023171:ENST00000529750:exon10:c.G930A:p.E310E,ENSG00000023171:ENST00000534764:exon10:c.G918A:p.E306E,ENSG00000023171:ENST00000456860:exon11:c.G951A:p.E317E Score=444;Name=lod=85 NA 11q24.1 Score=782;Name=V$PAX5_02 NA NA NA rs2279519 0.25 0.25 0.234 0.269369 0.3012 0.1736 0.2493 0.1944 0.4509 0.31 0.2 0.25 0.2 0.3281 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977619 NA NA 0.318347 0.2257 NA 0.21 NA 6.7190196 980 16 15129970 15129970 A G exonic PDXDC1 NA synonymous SNV PDXDC1:NM_015027:exon23:c.A2205G:p.L735L exonic ENSG00000179889 NA synonymous SNV ENSG00000179889:ENST00000447912:exon22:c.A1932G:p.L644L,ENSG00000179889:ENST00000450288:exon22:c.A2121G:p.L707L,ENSG00000179889:ENST00000569715:exon22:c.A2124G:p.L708L,ENSG00000179889:ENST00000325823:exon23:c.A2160G:p.L720L,ENSG00000179889:ENST00000396410:exon23:c.A2205G:p.L735L,ENSG00000179889:ENST00000563679:exon23:c.A2259G:p.L753L NA Name=Metabolic traits 16p13.11 Score=763;Name=V$PAX5_02 NA NA NA rs7200543 0.33 0.33 0.291 0.345048 0.3062 0.371 0.5331 0.1846 0.4417 0.32 0.38 0.48 0.19 0.3412 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826873 NA NA 0.300814 0.22508 NA 0.413 NA 6.7184526 980 10 101639877 101639877 A C exonic DNMBP NA nonsynonymous SNV DNMBP:NM_015221:exon16:c.T4239G:p.C1413W exonic ENSG00000107554 NA nonsynonymous SNV ENSG00000107554:ENST00000540316:exon8:c.T1047G:p.C349W,ENSG00000107554:ENST00000543621:exon13:c.T1977G:p.C659W,ENSG00000107554:ENST00000324109:exon16:c.T4239G:p.C1413W,ENSG00000107554:ENST00000342239:exon16:c.T4311G:p.C1437W NA NA 10q24.2 NA NA NA NA rs11190305 0.29 0.29 0.254 0.277157 0.3917 0.244 0.3329 0.1437 0.3344 0.39 0.26 0.37 0.11 0.3442 0.39 0.19 T 0.6 P 0.35 B 0.017 N 0.997 P 0.345 N 2.81 T -1.004 T 0.000 T 0.188 1.185 9.817 0.604 -0.132 -0.874 1.034 1.18472 NA 0.18 0.380349 0.187699 NA 0.333 NA 6.7170844 980 6 36922385 36922385 G A UTR5 PI16 NM_153370:c.-152G>A NA NA UTR5 ENSG00000164530 ENST00000373674:c.-152G>A NA NA Score=381;Name=lod=47 NA 6p21.2 Score=809;Name=V$RREB1_01 Name=GATA-1 NA NA rs1405070 0.66 0.66 0.685 0.633387 0.6163 0.4891 0.6772 0.8464 0.4806 0.62 0.54 0.64 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.788296 1.788296 NA NA NA NA 0.609 NA 6.7170334 980 15 62990971 62990971 C T exonic TLN2 NA synonymous SNV TLN2:NM_015059:exon13:c.C1492T:p.L498L exonic ENSG00000171914 NA synonymous SNV ENSG00000171914:ENST00000306829:exon13:c.C1492T:p.L498L,ENSG00000171914:ENST00000561311:exon15:c.C1492T:p.L498L Score=570;Name=lod=277 NA 15q22.2 Score=930;Name=V$HOXA3_01 NA NA NA rs12905981 0.36 0.36 0.365 0.350439 0.2942 0.6855 0.3718 0.1899 0.2648 0.3 0.6 0.33 0.2 0.3386 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185198 NA NA 0.317326 0.210849 ID=COSM287729;OCCURENCE=1(large_intestine) 0.297 NA 6.7165406 980 2 130897620 130897620 A G exonic CCDC74B NA nonsynonymous SNV CCDC74B:NM_001258307:exon6:c.T728C:p.V243A,CCDC74B:NM_207310:exon6:c.T926C:p.V309A exonic ENSG00000152076 NA nonsynonymous SNV ENSG00000152076:ENST00000392984:exon5:c.T1232C:p.V411A,ENSG00000152076:ENST00000310463:exon6:c.T926C:p.V309A,ENSG00000152076:ENST00000409943:exon6:c.T728C:p.V243A NA NA 2q21.1 NA NA NA NA rs2259332 0.29 0.29 0.122 0.363818 0.3032 0.3839 0.4107 0.3351 0.411 0.25 0.34 0.31 0.28 0.314 0.34 0.38 T 0.0 B 0.001 B 0.248 N 1.000 P -0.715 N 1.59 T -0.962 T 0.000 T 0.115 -3.455 0.001 0.077 -0.593 0.033 3.125 -3.455399 NA 0 NA NA NA 0.355 NA 6.7161334 981 3 148727133 148727133 G A exonic GYG1 NA synonymous SNV GYG1:NM_001184720:exon5:c.G552A:p.P184P,GYG1:NM_001184721:exon5:c.G552A:p.P184P,GYG1:NM_004130:exon5:c.G552A:p.P184P exonic ENSG00000163754 NA synonymous SNV ENSG00000163754:ENST00000296048:exon5:c.G552A:p.P184P,ENSG00000163754:ENST00000345003:exon5:c.G552A:p.P184P,ENSG00000163754:ENST00000461191:exon5:c.G540A:p.P180P,ENSG00000163754:ENST00000484197:exon5:c.G552A:p.P184P Score=664;Name=lod=667 NA 3q24 Score=774;Name=V$ARNT_02 NA NA NA rs4938 0.31 0.31 0.292 0.301318 0.335 0.3284 0.3055 0.2844 0.2587 0.32 0.33 0.31 0.28 0.3125 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664462 NA NA 0.304302 0.274852 NA 0.29 NA 6.7148646 981 21 40871810 40871810 T C exonic SH3BGR NA nonsynonymous SNV SH3BGR:NM_001001713:exon4:c.T230C:p.V77A,SH3BGR:NM_007341:exon4:c.T563C:p.V188A exonic ENSG00000185437 NA nonsynonymous SNV ENSG00000185437:ENST00000447939:exon1:c.T62C:p.V21A,ENSG00000185437:ENST00000423596:exon2:c.T89C:p.V30A,ENSG00000185437:ENST00000333634:exon4:c.T563C:p.V188A,ENSG00000185437:ENST00000380631:exon4:c.T230C:p.V77A,ENSG00000185437:ENST00000380634:exon4:c.T230C:p.V77A,ENSG00000185437:ENST00000380637:exon4:c.T230C:p.V77A,ENSG00000185437:ENST00000440288:exon4:c.T230C:p.V77A NA NA 21q22.2 NA NA NA NA rs9974333 0.54 0.54 0.525 0.550919 0.5288 0.6905 0.6124 0.4334 0.545 0.52 0.68 0.58 0.39 0.5566 0.68 1 T 0.0 B 0.0 B 0.283 N 0.999 P -0.55 N 1.98 T -0.936 T 0.000 T 0.027 -0.309 2.53 -1.76 -0.467 -1.098 0.401 -0.308722 NA 0.54 0.534767 0.450068 ID=COSM1179691;OCCURENCE=1(prostate) 0.674 NA 6.7131664 981 1 3428160 3428160 T G exonic MEGF6 NA synonymous SNV MEGF6:NM_001409:exon9:c.A1068C:p.T356T exonic ENSG00000162591 NA synonymous SNV ENSG00000162591:ENST00000294599:exon6:c.A753C:p.T251T,ENSG00000162591:ENST00000356575:exon9:c.A1068C:p.T356T,ENSG00000162591:ENST00000485002:exon9:c.A1089C:p.T363T Score=409;Name=lod=61 NA 1p36.32 Score=929;Name=V$LMO2COM_01 NA NA NA rs2820999 0.48 0.48 0.487 0.5 0.2863 0.6409 0.4049 0.7511 0.3027 0.27 0.61 0.43 0.69 0.3713 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021102 NA NA 0.296071 0.674458 NA 0.71 NA 6.7129956 981 14 106174221 106174221 G A intergenic ELK2AP,KIAA0125 dist=35077;dist=209617 NA NA exonic ENSG00000211895 NA nonsynonymous SNV ENSG00000211895:ENST00000390547:exon2:c.C568T:p.P190S Score=378;Name=lod=46 NA 14q32.33 NA Name=Pol2-4H8 NA NA rs117775520 0.01 0.01 0.015 0.0185703 0.0398 NA 0.036 0.0015 0.0266 0.03 NA 0.02 0.002 0.0363 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53735 NA NA 0.044298 0.005417 NA 0.007 NA 6.7129354 981 19 15807884 15807884 A G exonic CYP4F12 NA nonsynonymous SNV CYP4F12:NM_023944:exon13:c.A1564G:p.S522G exonic ENSG00000186204 NA nonsynonymous SNV ENSG00000186204:ENST00000324632:exon12:c.A1564G:p.S522G,ENSG00000186204:ENST00000550308:exon13:c.A1564G:p.S522G NA NA 19p13.12 NA NA NA NA rs593818 0.6 0.6 0.575 0.614217 0.5129 0.7421 0.647 0.6006 0.5818 0.52 0.73 0.62 0.57 0.5823 0.73 1 T 0.0 B 0.0 B 0.240 N 1.000 P 0 N -0.33 T -0.961 T 0.000 T 0.029 -1.82 0.009 -1.81 -0.729 -1.458 3.753 -1.820459 NA 1 0.525396 0.61106 NA 0.529 NA 6.7127374 981 15 55526886 55526886 C T intronic RAB27A NA NA NA intronic ENSG00000069974 NA NA NA Score=295;Name=lod=21 NA 15q21.3 NA Name=FOXA1_(C-20) Name=3 NA rs72742261 0.33 0.33 0.317 0.307907 0.2873 0.6419 0.3473 0.0318 0.3303 0.27 0.64 0.36 0.03 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.613572 3.613572 NA NA NA NA 0.333 NA 6.7127 981 12 124229429 124229429 T C exonic ATP6V0A2 NA synonymous SNV ATP6V0A2:NM_012463:exon13:c.T1515C:p.N505N exonic ENSG00000185344 NA synonymous SNV ENSG00000185344:ENST00000330342:exon13:c.T1515C:p.N505N NA NA 12q24.31 Score=943;Name=V$MEIS1_01 Name=CTCF NA NA rs7135542 0.79 0.79 0.794 0.799521 0.6292 0.9504 0.7867 0.8759 0.7249 0.63 0.95 0.75 0.87 0.6934 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075139 NA NA 0.631395 0.820245 ID=COSM1127520;OCCURENCE=1(prostate) 0.819 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081547.1;CLNDSDB=.;CLNDSDBID=. 6.7126716 981 14 51224658 51224658 T A exonic NIN NA synonymous SNV NIN:NM_020921:exon18:c.A3090T:p.S1030S,NIN:NM_182944:exon18:c.A3090T:p.S1030S,NIN:NM_182946:exon18:c.A3090T:p.S1030S exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000530997:exon16:c.A3090T:p.S1030S,ENSG00000100503:ENST00000245441:exon18:c.A3090T:p.S1030S,ENSG00000100503:ENST00000324330:exon18:c.A3090T:p.S1030S,ENSG00000100503:ENST00000382041:exon18:c.A3090T:p.S1030S,ENSG00000100503:ENST00000453196:exon18:c.A3090T:p.S1030S,ENSG00000100503:ENST00000476352:exon18:c.A3090T:p.S1030S NA NA 14q22.1 NA NA NA NA rs2073348 0.36 0.36 0.33 0.320887 0.3131 0.503 0.4308 0.1732 0.2628 0.32 0.52 0.45 0.17 0.3248 0.52 . . . . . . . . 1.000 P . . . . -0.927 T 0.000 T . -1.619 0.013 0.168 0.042 -0.765 0.913 -1.619033 NA NA 0.316977 0.193373 NA 0.312 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117802.2;CLNDSDB=.;CLNDSDBID=. 6.7117896 981 6 31379823 31379823 C G exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon4:c.C713G:p.T238S,MICA:NM_001177519:exon4:c.C713G:p.T238S exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon3:c.C386G:p.T129S,ENSG00000204520:ENST00000449934:exon4:c.C713G:p.T238S NA NA 6p21.33 NA NA NA NA rs1051799 0.33 0.33 0.198 0.364018 0.3141 0.2996 0.4063 0.4773 0.2986 0.29 0.26 0.43 0.42 0.3083 0.43 0.14 T 0.09 B 0.076 B 0.568 U 1.000 P . . 4.15 T -0.901 T 0.002 T 0.178 0.831 8.349 -0.436 0.021 -0.351 2.592 0.830533 NA 0.03 NA NA NA 0.333 NA 6.7109334 981 10 52420020 52420020 G A intergenic SGMS1,ASAH2B dist=36283;dist=79668 NA NA ncRNA_exonic ENSG00000231345 NA NA NA Score=686;Name=lod=816 NA 10q11.23 NA Name=Rad21,ELF1_(SC-631),CTCF,Znf143_(16618-1-AP),TAF1,GABP,SMC3_(ab9263),Pol2,HEY1,TBP,YY1,CTCF_(SC-5916),ZNF263,Pol2-4H8 Name=67 NA rs17497903 0.22 0.22 0.186 0.20627 0.2893 0.1845 0.2867 0.0961 0.2352 0.3 0.16 0.27 0.13 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949145 NA NA NA NA NA 0.159 NA 6.7107 981 15 78632830 78632830 C G exonic CRABP1 NA synonymous SNV CRABP1:NM_004378:exon1:c.C60G:p.L20L exonic ENSG00000166426 NA synonymous SNV ENSG00000166426:ENST00000299529:exon1:c.C60G:p.L20L Score=399;Name=lod=56 NA 15q25.1 NA Name=ELF1_(SC-631),TAF1,Pol2,TBP,HA-E2F1,Pol2-4H8 Name=13 NA rs1127472 0.54 0.54 0.54 0.532748 0.6322 0.498 0.7104 0.3434 0.5961 0.64 0.47 0.69 0.37 0.6417 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227844 NA NA 0.682591 0.381669 ID=COSM434365;OCCURENCE=1(breast) 0.435 NA 6.7101756 981 12 49425978 49425978 T C exonic MLL2 NA synonymous SNV MLL2:NM_003482:exon39:c.A12510G:p.P4170P exonic ENSG00000167548 NA synonymous SNV ENSG00000167548:ENST00000301067:exon39:c.A12510G:p.P4170P Score=407;Name=lod=60 NA 12q13.12 NA NA NA NA rs3741622 0.25 0.25 0.215 0.275359 0.3022 0.4454 0.2363 0.0234 0.4407 0.28 0.39 0.24 0.03 0.3192 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107973 NA NA 0.335621 0.072654 ID=COSM147495;OCCURENCE=1(stomach) 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080121.1;CLNDSDB=.;CLNDSDBID=. 6.7096456 981 9 135073877 135073877 C T exonic NTNG2 NA synonymous SNV NTNG2:NM_032536:exon3:c.C738T:p.F246F exonic ENSG00000196358 NA synonymous SNV ENSG00000196358:ENST00000360670:exon3:c.C738T:p.F246F,ENSG00000196358:ENST00000372179:exon3:c.C738T:p.F246F,ENSG00000196358:ENST00000393228:exon3:c.C738T:p.F246F,ENSG00000196358:ENST00000393229:exon3:c.C738T:p.F246F Score=649;Name=lod=580 NA 9q34.13 Score=815;Name=V$GRE_C NA NA NA rs3824574 0.3 0.3 0.289 0.290335 0.3211 0.378 0.2493 0.1936 0.3282 0.33 0.38 0.22 0.21 0.3178 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042461 NA NA 0.318288 0.192238 ID=COSM455512;OCCURENCE=1(breast) 0.239 NA 6.7094786 981 6 55196587 55196587 C T exonic GFRAL NA nonsynonymous SNV GFRAL:NM_207410:exon2:c.C97T:p.R33C exonic ENSG00000187871 NA nonsynonymous SNV ENSG00000187871:ENST00000340465:exon2:c.C97T:p.R33C NA NA 6p12.1 NA NA NA NA rs12199003 0.34 0.34 0.351 0.414936 0.3728 0.3056 0.2594 0.4312 0.6595 0.37 0.27 0.29 0.42 0.3886 0.42 0.06 T 0.712 P 0.157 B 0.448 N 1.000 P 0 N 1.47 T -1.012 T 0.012 T 0.122 0.138 4.744 1.07 -0.047 0.179 5.458 0.13843 NA 0.15 0.363023 0.403541 NA 0.283 NA 6.7089104 981 6 31379795 31379795 A G exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon4:c.A685G:p.S229G,MICA:NM_001177519:exon4:c.A685G:p.S229G exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000421350:exon3:c.A358G:p.S120G,ENSG00000204520:ENST00000449934:exon4:c.A685G:p.S229G NA NA 6p21.33 NA NA NA NA rs1131898 0.3 0.3 0.187 0.364018 0.3141 0.2996 0.4063 0.4773 0.2986 0.26 0.23 0.41 0.38 0.3113 0.41 1 T 0.009 B 0.003 B 0.600 N 1.000 P . . 3.01 T -0.940 T 0.003 T 0.214 -1.631 0.013 -1.92 -0.782 0.171 8.889 -1.630927 NA 1 NA NA NA NA NA 6.7079334 981 19 4294623 4294623 C A exonic TMIGD2 NA nonsynonymous SNV TMIGD2:NM_001169126:exon4:c.G503T:p.W168L,TMIGD2:NM_144615:exon4:c.G503T:p.W168L exonic ENSG00000167664 NA nonsynonymous SNV ENSG00000167664:ENST00000600114:exon3:c.G143T:p.W48L,ENSG00000167664:ENST00000301272:exon4:c.G503T:p.W168L,ENSG00000167664:ENST00000595645:exon4:c.G503T:p.W168L NA NA 19p13.3 NA NA NA NA rs58237134 0.17 0.17 0.161 0.178514 0.2068 0.0873 0.1931 0.1543 0.2658 0.19 0.12 0.2 0.19 0.2112 0.21 1 T 0.0 B 0.0 B . . 1.000 P -0.695 N 1.61 T -0.963 T 0.000 T 0.087 -1.721 0.011 1.86 -0.036 0.579 7.159 -1.720885 NA 1 0.207558 0.176123 NA 0.116 NA 6.7077754 981 11 63885704 63885704 C T exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.C1965T:p.Y655Y exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.C1965T:p.Y655Y Score=634;Name=lod=504 NA 11q13.1 Score=790;Name=V$CDPCR3_01 NA Name=2 NA rs677447 0.45 0.45 0.428 0.398562 0.6958 0.3254 0.5346 0.1309 0.4335 0.7 0.31 0.55 0.14 0.5815 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328998 NA NA 0.682845 0.219091 NA 0.449 NA 6.7065216 981 14 23892888 23892888 A G exonic MYH7 NA synonymous SNV MYH7:NM_000257:exon24:c.T2967C:p.I989I exonic ENSG00000092054 NA synonymous SNV ENSG00000092054:ENST00000355349:exon24:c.T2967C:p.I989I Score=722;Name=lod=1147 NA 14q11.2 NA NA NA NA rs7157716 0.36 0.36 0.357 0.376398 0.3111 0.1667 0.2334 0.7458 0.2618 0.3 0.16 0.26 0.74 0.3212 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591661 NA NA 0.328837 0.700409 ID=COSM147748;OCCURENCE=1(stomach) 0.478 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000035835.2|RCV000126991.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.7055296 982 9 137809685 137809685 C A exonic FCN1 NA synonymous SNV FCN1:NM_002003:exon1:c.G33T:p.G11G exonic ENSG00000085265 NA synonymous SNV ENSG00000085265:ENST00000371806:exon1:c.G33T:p.G11G NA NA 9q34.3 Score=817;Name=V$PPARG_03 Name=c-Myc,Pol2,Max NA NA rs10858293 0.27 0.27 0.274 0.245607 0.339 0.125 0.2262 0.3313 0.1718 0.35 0.13 0.22 0.33 0.2868 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287592 NA NA 0.336512 0.318656 NA 0.268 NA 6.7043546 982 8 27925204 27925204 T C exonic NUGGC NA nonsynonymous SNV NUGGC:NM_001010906:exon6:c.A538G:p.S180G exonic ENSG00000189233 NA nonsynonymous SNV ENSG00000189233:ENST00000341513:exon6:c.A538G:p.S180G,ENSG00000189233:ENST00000413272:exon6:c.A538G:p.S180G NA NA 8p21.1 NA NA NA NA rs4732620 0.57 0.57 0.561 0.584465 0.5159 0.6101 0.6095 0.6089 0.5777 0.51 0.62 0.56 0.63 0.5706 0.63 0.43 T 0.0 B 0.0 B 0.316 N 1.000 P -0.855 N -4.2 D -0.920 T 0.000 T 0.022 -0.955 0.333 0.743 -0.083 -0.491 1.212 -0.954775 NA 0.86 0.542881 0.596359 NA 0.558 NA 6.7039524 982 11 65392695 65392695 C T exonic PCNXL3 NA synonymous SNV PCNXL3:NM_032223:exon17:c.C2973T:p.L991L exonic ENSG00000197136 NA synonymous SNV ENSG00000197136:ENST00000355703:exon17:c.C2973T:p.L991L Score=617;Name=lod=428 NA 11q13.1 NA Name=CTCF NA NA rs1205259 0.26 0.26 0.255 0.235224 0.337 0.1349 0.2421 0.3245 0.1084 0.34 0.12 0.25 0.29 0.2792 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.380014 1.380014 NA 0.346656 0.332651 NA 0.29 NA 6.7038106 982 10 33346697 33346697 C G intergenic ITGB1,NRP1 dist=99404;dist=119722 NA NA ncRNA_exonic ENSG00000235962 NA NA NA Score=778;Name=lod=1927 NA 10p11.22 NA Name=GATA2_(CG2-96),TAL1_(SC-12984) Name=4 NA rs2756018 0.39 0.39 0.402 0.422125 0.2962 0.4127 0.2637 0.6505 0.365 0.28 0.4 0.3 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11405 NA NA NA NA NA 0.399 NA 6.7038 982 22 44586522 44586522 C T exonic PARVG NA synonymous SNV PARVG:NM_001137605:exon7:c.C480T:p.V160V,PARVG:NM_022141:exon7:c.C480T:p.V160V exonic ENSG00000138964 NA synonymous SNV ENSG00000138964:ENST00000356909:exon7:c.C480T:p.V160V,ENSG00000138964:ENST00000415224:exon7:c.C480T:p.V160V,ENSG00000138964:ENST00000422871:exon7:c.C480T:p.V160V,ENSG00000138964:ENST00000444313:exon7:c.C480T:p.V160V Score=355;Name=lod=37 NA 22q13.31 Score=806;Name=V$CMYB_01 NA NA NA rs2272942 0.21 0.21 0.184 0.17472 0.3618 0.12 0.1758 0.0696 0.18 0.37 0.12 0.21 0.08 0.26 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319951 NA NA 0.341628 0.099637 NA 0.239 NA 6.7032386 982 12 49690337 49690337 T C intronic PRPH NA NA NA ncRNA_exonic ENSG00000258334 NA NA NA NA NA 12q13.12 NA Name=KAP1,c-Myc,CTCF Name=56 NA rs2070760 0.24 0.24 0.27 0.258986 0.2038 0.0367 0.1585 0.5976 0.1585 0.21 0.05 0.18 0.57 0.2211 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.277809 1.277809 NA 0.205698 0.534044 NA 0.326 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057173.1;CLNDSDB=.;CLNDSDBID=. 6.7027353 982 12 121435342 121435342 C T exonic HNF1A NA synonymous SNV HNF1A:NM_000545:exon7:c.C1375T:p.L459L exonic ENSG00000135100 NA synonymous SNV ENSG00000135100:ENST00000535955:exon2:c.C91T:p.L31L,ENSG00000135100:ENST00000538626:exon2:c.C121T:p.L41L,ENSG00000135100:ENST00000257555:exon7:c.C1375T:p.L459L,ENSG00000135100:ENST00000400024:exon7:c.C1375T:p.L459L,ENSG00000135100:ENST00000541395:exon7:c.C1375T:p.L459L,ENSG00000135100:ENST00000544413:exon7:c.C1375T:p.L459L Score=554;Name=lod=237 NA 12q24.31 NA NA NA NA rs2259820 0.33 0.33 0.309 0.316693 0.3161 0.4732 0.3501 0.1089 0.4131 0.31 0.52 0.36 0.11 0.3368 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250912 1.250912 NA 0.311119 0.120064 NA 0.217 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117226.2|RCV000125373.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.7026476 982 19 4512669 4512669 T C exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A1261G:p.T421A exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.A1261G:p.T421A NA NA 19p13.3 Score=849;Name=V$GR_Q6 NA NA NA rs55901236 0.5 0.5 0.517 0.454073 0.5696 0.7153 0.4741 0.118 0.5061 0.57 0.71 0.51 0.15 0.5265 0.71 0.16 T 0.009 B 0.008 B 0.002 N 1.000 P 1.42 L 2.45 T -1.028 T 0.000 T 0.034 1.151 9.686 0.087 -0.085 -0.441 8.645 1.150525 NA 0.52 0.536542 0.208354 NA 0.478 NA 6.7006914 982 19 58946203 58946203 C T exonic ZNF132 NA nonsynonymous SNV ZNF132:NM_003433:exon3:c.G608A:p.G203D exonic ENSG00000131849 NA nonsynonymous SNV ENSG00000131849:ENST00000254166:exon3:c.G608A:p.G203D NA NA 19q13.43 NA NA NA NA rs1122955 0.15 0.15 0.16 0.146166 0.2445 0.0546 0.1772 0.1059 0.1718 0.23 0.06 0.18 0.12 0.1843 0.23 0.49 T 0.0 B 0.0 B . . 1.000 P -0.245 N 2.49 T -0.905 T 0.000 T 0.054 -1.325 0.033 0.23 -0.007 -0.269 3.782 -1.324593 NA 0.27 0.204767 0.108261 NA 0.167 NA 6.6997664 982 19 55756980 55756980 A G exonic PPP6R1 NA synonymous SNV PPP6R1:NM_014931:exon3:c.T294C:p.A98A exonic ENSG00000105063 NA synonymous SNV ENSG00000105063:ENST00000587283:exon2:c.T294C:p.A98A,ENSG00000105063:ENST00000412770:exon3:c.T294C:p.A98A,ENSG00000105063:ENST00000592242:exon3:c.T294C:p.A98A NA NA 19q13.42 Score=858;Name=V$NFE2_01 Name=c-Myc NA NA rs3745920 0.2 0.2 0.177 0.204073 0.336 0.1111 0.2738 0.0635 0.3047 0.33 0.1 0.3 0.07 0.2877 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997924 NA NA 0.343385 0.100779 ID=COSM440353;OCCURENCE=2(breast) 0.188 NA 6.6995816 982 17 39681475 39681475 A G exonic KRT19 NA synonymous SNV KRT19:NM_002276:exon2:c.T471C:p.N157N exonic ENSG00000171345 NA synonymous SNV ENSG00000171345:ENST00000361566:exon2:c.T471C:p.N157N,ENSG00000171345:ENST00000455635:exon2:c.T378C:p.N126N Score=485;Name=lod=125 NA 17q21.2 NA Name=Pol2-4H8 NA NA rs4601 0.71 0.71 0.681 0.731829 0.6471 0.9137 0.7853 0.5908 0.7843 0.63 0.93 0.73 0.58 0.6857 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.159339 NA NA 0.637093 0.586927 NA 0.754 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056946.1;CLNDSDB=.;CLNDSDBID=. 6.6967736 982 22 38164106 38164106 C T exonic TRIOBP NA synonymous SNV TRIOBP:NM_007032:exon9:c.C1359T:p.Y453Y,TRIOBP:NM_001039141:exon19:c.C6498T:p.Y2166Y exonic ENSG00000100106 NA synonymous SNV ENSG00000100106:ENST00000403663:exon9:c.C1359T:p.Y453Y,ENSG00000100106:ENST00000406386:exon19:c.C6498T:p.Y2166Y Score=562;Name=lod=256 NA 22q13.1 NA NA NA NA rs4821708 0.27 0.27 0.259 0.264776 0.336 0.2927 0.2997 0.0408 0.4407 0.34 0.34 0.31 0.05 0.3279 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.366354 2.366354 NA 0.306927 0.075149 ID=COSM444972;OCCURENCE=1(breast) 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036833.1;CLNDSDB=.;CLNDSDBID=. 6.6958396 982 2 186670979 186670979 T C exonic FSIP2 NA nonsynonymous SNV FSIP2:NM_173651:exon17:c.T17213C:p.I5738T exonic ENSG00000188738 NA nonsynonymous SNV ENSG00000188738:ENST00000343098:exon17:c.T17213C:p.I5738T,ENSG00000188738:ENST00000424728:exon17:c.T16946C:p.I5649T NA NA 2q32.1 NA NA NA NA rs4666689 0.85 0.85 0.858 0.865815 0.8757 0.878 0.8487 0.8033 0.9397 0.87 0.88 0.85 0.79 0.8752 0.89 0.65 T . . . . . . 1.000 P -0.805 N 1.01 T -0.991 T 0.000 T 0.006 0.032 4.182 -3.53 -0.800 -1.929 0.812 0.032483 NA 0.7 0.887105 0.809135 NA 0.891 NA 6.6953284 983 2 207006676 207006676 T C exonic NDUFS1 NA synonymous SNV NDUFS1:NM_001199982:exon9:c.A918G:p.R306R,NDUFS1:NM_001199981:exon11:c.A1143G:p.R381R,NDUFS1:NM_001199983:exon11:c.A1080G:p.R360R,NDUFS1:NM_001199984:exon12:c.A1293G:p.R431R,NDUFS1:NM_005006:exon12:c.A1251G:p.R417R exonic ENSG00000023228 NA synonymous SNV ENSG00000023228:ENST00000457011:exon8:c.A903G:p.R301R,ENSG00000023228:ENST00000432169:exon9:c.A918G:p.R306R,ENSG00000023228:ENST00000423725:exon11:c.A1080G:p.R360R,ENSG00000023228:ENST00000440274:exon11:c.A1143G:p.R381R,ENSG00000023228:ENST00000233190:exon12:c.A1251G:p.R417R,ENSG00000023228:ENST00000449699:exon12:c.A1251G:p.R417R,ENSG00000023228:ENST00000455934:exon12:c.A1293G:p.R431R Score=686;Name=lod=815 NA 2q33.3 NA NA NA NA rs1801318 0.33 0.33 0.317 0.309904 0.341 0.2133 0.2882 0.4508 0.2025 0.34 0.21 0.34 0.44 0.3105 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011158 NA NA 0.320349 0.438947 NA 0.268 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117709.2;CLNDSDB=.;CLNDSDBID=. 6.6948176 983 1 152279729 152279729 C T exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.G7633A:p.G2545R exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G7633A:p.G2545R NA NA 1q21.3 NA NA NA NA rs3126072 0.4 0.4 0.356 0.47484 0.173 0.6548 0.451 0.5658 0.4939 0.18 0.63 0.37 0.52 0.2974 0.63 0.57 T 0.0 B 0.0 B . . 1.000 P -1.74 N 4.68 T -1.054 T 0.000 T 0.028 -0.235 2.868 0.755 -0.360 -0.243 4.444 -0.234541 NA 0.29 0.169419 0.499545 NA 0.254 NA 6.6935144 983 19 33110204 33110204 T C exonic ANKRD27 NA nonsynonymous SNV ANKRD27:NM_032139:exon20:c.A1969G:p.S657G exonic ENSG00000105186 NA nonsynonymous SNV ENSG00000105186:ENST00000306065:exon20:c.A1969G:p.S657G NA NA 19q13.11 NA NA NA NA rs2287669 0.46 0.46 0.446 0.460264 0.5646 0.2877 0.3775 0.5136 0.5174 0.58 0.28 0.43 0.51 0.5069 0.58 0.38 T 0.435 B 0.078 B 0.149 N 1.000 P 1.78 L -0.04 T -0.903 T 0.000 T 0.011 -0.127 3.378 1.85 0.064 1.097 3.973 -0.126979 NA 0.43 0.568372 0.522696 NA 0.536 NA 6.6934614 983 9 5801121 5801121 A G intronic ERMP1 NA NA NA intronic ENSG00000099219 NA NA NA NA NA 9p24.1 Score=840;Name=V$MRF2_01 Name=FOXA1_(C-20) Name=50 NA rs3824444 0.41 0.41 0.355 0.391573 0.3072 0.7282 0.4164 0.1467 0.4448 0.33 0.76 0.43 0.13 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305475 NA NA NA NA NA 0.355 NA 6.6928 983 2 159992699 159992699 C T intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA Score=658;Name=lod=628 NA 2q24.2 NA Name=p300,c-Jun,ERalpha_a Name=107 NA rs2288105 0.23 0.23 0.22 0.226238 0.0845 0.4554 0.2608 0.1823 0.1708 0.1 0.47 0.18 0.18 0.1485 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.454256 2.454256 NA 0.07428 0.157606 NA 0.159 NA 6.69272 983 6 159655084 159655084 C G exonic FNDC1 NA nonsynonymous SNV FNDC1:NM_032532:exon11:c.C3540G:p.D1180E exonic ENSG00000164694 NA nonsynonymous SNV ENSG00000164694:ENST00000340366:exon10:c.C3351G:p.D1117E,ENSG00000164694:ENST00000297267:exon11:c.C3540G:p.D1180E Score=300;Name=lod=22 NA 6q25.3 NA NA NA NA rs420054 0.8 0.8 0.775 0.782348 0.9085 0.626 0.8602 0.7103 0.8558 0.92 0.63 0.88 0.75 0.8367 0.92 1 T 0.0 B 0.002 B 0.117 N 1.000 P -0.345 N 3.87 T -0.993 T 0.018 T 0.133 -0.237 2.857 2.74 0.444 -0.066 8.459 -0.236916 NA 0.66 0.895957 0.75937 NA 0.587 NA 6.6921764 983 2 208478055 208478055 A G exonic METTL21A NA synonymous SNV METTL21A:NM_001127395:exon4:c.T372C:p.T124T,METTL21A:NM_145280:exon4:c.T372C:p.T124T exonic ENSG00000144401 NA synonymous SNV ENSG00000144401:ENST00000426075:exon3:c.T372C:p.T124T,ENSG00000144401:ENST00000272839:exon4:c.T426C:p.T142T,ENSG00000144401:ENST00000406927:exon4:c.T372C:p.T124T,ENSG00000144401:ENST00000411432:exon4:c.T372C:p.T124T,ENSG00000144401:ENST00000442521:exon4:c.T372C:p.T124T,ENSG00000144401:ENST00000448007:exon4:c.T372C:p.T124T Score=479;Name=lod=118 NA 2q33.3 Score=868;Name=V$ATF6_01 NA NA NA rs17520056 0.31 0.31 0.287 0.347644 0.3072 0.372 0.3617 0.233 0.5092 0.31 0.37 0.3 0.24 0.3522 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132907 NA NA 0.316744 0.249433 ID=COSM149049;OCCURENCE=1(stomach) 0.478 NA 6.6905226 983 22 22707597 22707597 A G intergenic LOC96610,ZNF280B dist=30273;dist=131175 NA NA exonic ENSG00000211647 NA nonsynonymous SNV ENSG00000211647:ENST00000390293:exon2:c.A185G:p.E62G Score=300;Name=lod=22 NA 22q11.22 NA NA NA NA NA NA NA 0.1 NA NA NA NA NA NA NA NA NA NA 0.143 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517505 NA 1 NA NA NA 0.101 NA 6.6903334 983 21 34945721 34945721 T C exonic SON NA synonymous SNV SON:NM_138927:exon9:c.T6993C:p.N2331N exonic ENSG00000159140 NA synonymous SNV ENSG00000159140:ENST00000381692:exon8:c.T1077C:p.N359N,ENSG00000159140:ENST00000356577:exon9:c.T6993C:p.N2331N Score=684;Name=lod=806 NA 21q22.11 NA NA NA NA rs3174808 0.29 0.29 0.264 0.289537 0.328 0.249 0.3242 0.2474 0.3241 0.34 0.26 0.28 0.25 0.3229 0.35 . . . . . . . . 0.000 P . . . . -0.990 T 0.000 T . 0.338 5.834 1.81 0.447 0.026 9.543 0.338035 NA NA 0.326315 0.256241 NA 0.391 NA 6.6894516 983 9 107457532 107457532 C T exonic OR13D1 NA nonsynonymous SNV OR13D1:NM_001004484:exon1:c.C830T:p.S277L exonic ENSG00000179055 NA nonsynonymous SNV ENSG00000179055:ENST00000318763:exon1:c.C830T:p.S277L NA NA 9q31.1 NA NA NA NA rs10761073 0.74 0.74 0.737 0.765775 0.506 0.9901 0.6643 0.8593 0.7474 0.52 0.99 0.66 0.83 0.6243 0.99 1 T 0.003 B 0.0 B 0.003 N 1.000 P -4.525 N 1.7 T -0.920 T 0.000 T 0.058 -2.996 0.001 1.4 -0.522 4.054 5.141 -2.996412 NA 1 0.515 0.816841 NA 0.652 NA 6.6880334 983 18 31320229 31320229 A G exonic ASXL3 NA nonsynonymous SNV ASXL3:NM_030632:exon11:c.A2861G:p.N954S exonic ENSG00000141431 NA nonsynonymous SNV ENSG00000141431:ENST00000269197:exon11:c.A2861G:p.N954S Score=325;Name=lod=28 NA 18q12.1 NA NA NA NA rs2282632 0.7 0.7 0.696 0.703275 0.5249 0.8988 0.6916 0.8094 0.5501 0.52 0.9 0.66 0.78 0.6029 0.9 0.8 T 0.003 B 0.002 B 0.273 N 0.997 P 0.895 L 0.81 T -0.979 T 0.000 T 0.047 1.201 9.879 0.361 0.109 0.405 5.884 1.200986 NA 0.07 0.517805 0.784632 NA 0.717 NA 6.6877284 983 7 73097238 73097238 G A exonic DNAJC30 NA synonymous SNV DNAJC30:NM_032317:exon1:c.C516T:p.Y172Y exonic ENSG00000176410 NA synonymous SNV ENSG00000176410:ENST00000395176:exon1:c.C516T:p.Y172Y Score=521;Name=lod=175 NA 7q11.23 NA Name=E2F6_(H-50) NA NA rs1569062 0.23 0.23 0.21 0.232228 0.337 0.1746 0.3473 0.0325 0.3722 0.33 0.18 0.36 0.02 0.3043 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.967379 1.967379 NA 0.338023 0.081934 NA 0.196 NA 6.6873436 983 3 112059768 112059768 C G exonic CD200 NA nonsynonymous SNV CD200:NM_005944:exon2:c.C32G:p.S11C,CD200:NM_001004196:exon3:c.C107G:p.S36C exonic ENSG00000091972 NA nonsynonymous SNV ENSG00000091972:ENST00000315711:exon2:c.C32G:p.S11C,ENSG00000091972:ENST00000498096:exon2:c.C32G:p.S11C,ENSG00000091972:ENST00000607597:exon2:c.C11G:p.S4C,ENSG00000091972:ENST00000473539:exon3:c.C107G:p.S36C Score=376;Name=lod=45 NA 3q13.2 NA NA NA NA rs1131199 0.63 0.63 0.636 0.660343 0.5089 0.7063 0.5519 0.7753 0.6902 0.51 0.72 0.54 0.76 0.5991 0.76 1 T 0.0 B 0.0 B 0.041 N 0.001 P -1.1 N 1.28 T -0.973 T 0.000 T 0.07 -1.024 0.227 -0.608 -0.219 0.242 4.712 -1.023829 NA 1 0.538372 0.751929 NA 0.536 NA 6.6869614 983 20 37534665 37534665 C T exonic PPP1R16B NA synonymous SNV PPP1R16B:NM_015568:exon7:c.C750T:p.D250D exonic ENSG00000101445 NA synonymous SNV ENSG00000101445:ENST00000299824:exon7:c.C750T:p.D250D Score=472;Name=lod=110 NA 20q11.23 Score=884;Name=V$P300_01 NA NA NA rs4812332 0.35 0.35 0.346 0.345248 0.336 0.4167 0.3746 0.2995 0.3221 0.34 0.37 0.37 0.34 0.3219 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.651786 NA NA 0.322093 0.318202 NA 0.254 NA 6.6866736 983 17 72584764 72584764 C T exonic CD300LD NA nonsynonymous SNV CD300LD:NM_001115152:exon2:c.G265A:p.V89M exonic ENSG00000204345 NA nonsynonymous SNV ENSG00000204345:ENST00000375352:exon2:c.G265A:p.V89M NA NA 17q25.1 NA NA NA NA rs783239 0.32 0.32 0.334 0.342452 0.1829 0.249 0.2161 0.6604 0.2628 0.19 0.23 0.24 0.67 0.2513 0.67 0.19 T 0.083 B 0.046 B 0.153 N 1.000 P 1.83 L -0.15 T -0.907 T 0.000 T 0.021 1.054 9.306 -0.509 -0.727 -0.650 4.886 1.054409 NA 0.09 0.213428 0.566645 ID=COSM148338;OCCURENCE=1(stomach) 0.333 NA 6.6857054 983 16 90095561 90095561 C T exonic C16orf3 NA nonsynonymous SNV C16orf3:NM_001214:exon1:c.G190A:p.V64I exonic ENSG00000221819 NA nonsynonymous SNV ENSG00000221819:ENST00000408886:exon1:c.G190A:p.V64I NA NA 16q24.3 NA NA NA NA rs3785183 0.29 0.29 0.282 0.33107 0.335 0.1687 0.3127 0.3638 0.4632 0.31 0.18 0.29 0.4 0.313 0.4 . . 0.13 B 0.003 B . . 1.000 P 0 N 0.54 T -0.922 T 0.000 T 0.045 -0.389 2.174 0.438 0.197 -0.385 5.555 -0.38926 NA NA NA NA ID=COSM1128837;OCCURENCE=1(prostate) 0.167 NA 6.6853334 983 3 111260975 111260975 C T UTR5 CD96 NM_005816:c.-121C>T,NM_198196:c.-121C>T NA NA UTR5 ENSG00000153283 ENST00000352690:c.-121C>T,ENST00000283285:c.-121C>T NA NA NA NA 3q13.13 Score=909;Name=V$FOXO4_01 Name=NFKB Name=55 NA rs2276873 0.48 0.48 0.441 0.458866 0.6481 0.4831 0.5317 0.1732 0.5736 0.65 0.49 0.52 0.18 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177247 NA NA NA NA NA 0.558 NA 6.6852334 983 12 133732624 133732624 C T exonic ZNF10 NA synonymous SNV ZNF10:NM_015394:exon5:c.C792T:p.P264P exonic ENSG00000256223 NA synonymous SNV ENSG00000256223:ENST00000248211:exon5:c.C792T:p.P264P,ENSG00000256223:ENST00000426665:exon5:c.C792T:p.P264P Score=455;Name=lod=94 NA 12q24.33 NA NA Name=16 NA rs3763151 0.29 0.29 0.289 0.293131 0.34 0.1111 0.2608 0.4402 0.2566 0.35 0.08 0.27 0.46 0.3121 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645988 NA NA 0.329535 0.41103 NA 0.377 NA 6.6850316 984 12 26749831 26749831 G A exonic ITPR2 NA synonymous SNV ITPR2:NM_002223:exon31:c.C4239T:p.D1413D exonic ENSG00000123104 NA synonymous SNV ENSG00000123104:ENST00000381340:exon31:c.C4239T:p.D1413D Score=696;Name=lod=900 NA 12p11.23 Score=837;Name=V$CHOP_01 NA NA NA rs2230377 0.19 0.19 0.188 0.179313 0.3579 0.0476 0.1599 0.0938 0.2607 0.35 0.04 0.18 0.14 0.2815 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771409 NA NA 0.34235 0.127073 NA 0.167 NA 6.6849166 984 16 58587737 58587737 C T exonic CNOT1 NA synonymous SNV CNOT1:NM_001265612:exon22:c.G2904A:p.Q968Q,CNOT1:NM_016284:exon22:c.G2919A:p.Q973Q,CNOT1:NM_206999:exon22:c.G2919A:p.Q973Q exonic ENSG00000125107 NA synonymous SNV ENSG00000125107:ENST00000317147:exon22:c.G2919A:p.Q973Q,ENSG00000125107:ENST00000441024:exon22:c.G2919A:p.Q973Q,ENSG00000125107:ENST00000567188:exon22:c.G2904A:p.Q968Q,ENSG00000125107:ENST00000569240:exon22:c.G2904A:p.Q968Q Score=661;Name=lod=650 NA 16q21 Score=834;Name=V$MRF2_01 NA NA NA rs11866002 0.46 0.46 0.467 0.485224 0.3211 0.5704 0.2983 0.6687 0.4509 0.32 0.59 0.3 0.66 0.3683 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937265 NA NA 0.292442 0.604641 NA 0.399 NA 6.6848246 984 6 167796309 167796309 C T exonic TCP10 NA nonsynonymous SNV TCP10:NM_004610:exon2:c.G53A:p.G18E exonic ENSG00000203690 NA nonsynonymous SNV ENSG00000203690:ENST00000485157:exon1:c.G53A:p.G18E,ENSG00000203690:ENST00000366827:exon2:c.G53A:p.G18E,ENSG00000203690:ENST00000397829:exon2:c.G53A:p.G18E,ENSG00000203690:ENST00000476779:exon3:c.G53A:p.G18E NA NA 6q27 NA NA NA NA rs17855834 0.25 0.25 0.196 0.236422 0.1958 0.3839 0.2579 0.1747 0.1943 0.19 0.4 0.24 0.19 0.2467 0.4 1 T 0.447 B 0.174 B . . 1.000 P 0.805 L 2.14 T -0.991 T 0.012 T 0.344 -1.836 0.009 0.806 0.073 0.398 3.534 -1.836301 NA 0.67 0.210047 0.214484 NA 0.174 NA 6.6807864 984 19 18679379 18679379 C G exonic KXD1 NA nonsynonymous SNV KXD1:NM_001171949:exon5:c.C469G:p.P157A,KXD1:NM_024069:exon5:c.C469G:p.P157A,KXD1:NM_001171948:exon6:c.C469G:p.P157A exonic ENSG00000105700 NA nonsynonymous SNV ENSG00000105700:ENST00000222307:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000539106:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000595073:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000597438:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000599319:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000600654:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000602094:exon5:c.C469G:p.P157A,ENSG00000105700:ENST00000540691:exon6:c.C469G:p.P157A,ENSG00000105700:ENST00000601630:exon6:c.C526G:p.P176A NA NA 19p13.11 NA NA NA NA rs7648 0.5 0.5 0.448 0.46246 0.5606 0.6895 0.5533 0.146 0.4908 0.58 0.68 0.52 0.17 0.5288 0.68 0.7 T 0.131 B 0.039 B 0.018 N 1.000 P 0.69 N 1.0 T -0.958 T 0.000 T 0.124 -0.308 2.533 2.41 0.346 0.467 6.639 -0.308095 NA 1 0.563837 0.201089 NA 0.377 NA 6.6800964 984 14 39716201 39716201 A G exonic MIA2 NA nonsynonymous SNV MIA2:NM_054024:exon4:c.A423G:p.I141M exonic ENSG00000150526,ENSG00000258941 NA nonsynonymous SNV ENSG00000150526:ENST00000280082:exon4:c.A423G:p.I141M,ENSG00000258941:ENST00000553728:exon4:c.A423G:p.I141M,ENSG00000150526:ENST00000556784:exon4:c.A420G:p.I140M NA NA 14q21.1 NA NA NA NA rs11845046 0.26 0.26 0.253 0.238219 0.2127 0.502 0.183 0.1407 0.1636 0.2 0.51 0.2 0.12 0.2326 0.51 . . 0.017 B 0.005 B 0.505 N 1.000 P 0.665 N 3.26 T -0.905 T 0.000 T 0.076 -0.257 2.767 -1.41 0.079 0.264 3.133 -0.256608 NA 0.13 0.208227 0.167123 NA 0.13 NA 6.6798064 984 14 106866465 106866465 A G intergenic LINC00226,LINC00221 dist=121499;dist=71990 NA NA exonic ENSG00000211958 NA nonsynonymous SNV ENSG00000211958:ENST00000390618:exon2:c.T289C:p.Y97H Score=376;Name=lod=45 NA 14q32.33 NA Name=CTCF NA NA rs78660098 NA NA 0.107 NA NA NA NA NA NA NA NA NA NA 0.1546 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82062 NA 0.02 NA NA NA 0.014 NA 6.6787334 984 16 21994411 21994411 G A exonic UQCRC2 NA synonymous SNV UQCRC2:NM_003366:exon14:c.G1281A:p.A427A exonic ENSG00000140740 NA nonsynonymous SNV ENSG00000140740:ENST00000561553:exon13:c.G1127A:p.R376Q Score=578;Name=lod=297 NA 16p12.2 NA NA NA NA rs7282 0.08 0.08 0.097 0.108826 0.0994 0.124 0.049 0.0121 0.2761 0.1 0.13 0.04 0.02 0.1162 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.684908 3.684908 NA 0.105698 0.031165 NA 0.051 NA 6.678702 984 10 99160152 99160152 A G exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon2:c.T279C:p.G93G,RRP12:NM_015179:exon2:c.T279C:p.G93G exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000315563:exon2:c.T279C:p.G93G,ENSG00000052749:ENST00000370992:exon2:c.T279C:p.G93G,ENSG00000052749:ENST00000414986:exon2:c.T279C:p.G93G NA NA 10q24.1 NA Name=CEBPB,GABP,TAF1,Pol2 Name=137 NA rs1048442 0.37 0.37 0.377 0.400559 0.336 0.3125 0.3444 0.5378 0.4121 0.33 0.28 0.33 0.56 0.3381 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504722 NA NA 0.316512 0.497049 NA 0.304 NA 6.6760546 984 4 190862182 190862182 C T exonic FRG1 NA synonymous SNV FRG1:NM_004477:exon1:c.C18T:p.Y6Y exonic ENSG00000109536 NA synonymous SNV ENSG00000109536:ENST00000226798:exon1:c.C18T:p.Y6Y,ENSG00000109536:ENST00000533157:exon1:c.C18T:p.Y6Y NA NA 4q35.2 NA Name=TBP,GTF2F1_(RAP-74),NFKB,HEY1,Pol2-4H8,Pol2,Pol2(b),TAF1 Name=20 NA rs2411530 0.48 0.48 0.45 0.464257 0.3231 0.3938 0.2752 0.7716 0.4008 0.37 0.41 0.38 0.79 0.3495 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.583424 NA NA 0.318488 0.729914 NA 0.08 NA 6.6755786 984 2 148657117 148657117 G A exonic ACVR2A NA synonymous SNV ACVR2A:NM_001616:exon3:c.G354A:p.P118P exonic ENSG00000121989 NA synonymous SNV ENSG00000121989:ENST00000241416:exon3:c.G354A:p.P118P,ENSG00000121989:ENST00000535787:exon3:c.G30A:p.P10P,ENSG00000121989:ENST00000404590:exon4:c.G354A:p.P118P Score=655;Name=lod=614 NA 2q22.3 Score=816;Name=V$STAT3_01 NA NA NA rs1128919 0.39 0.39 0.359 0.352636 0.327 0.4673 0.4611 0.2852 0.2751 0.35 0.47 0.44 0.3 0.3493 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.124787 2.124787 NA 0.31519 0.310627 NA 0.478 NA 6.6751766 985 6 30313029 30313029 C T intronic RPP21,TRIM39-RPP21 NA NA NA exonic ENSG00000241370 NA synonymous SNV ENSG00000241370:ENST00000428040:exon1:c.C81T:p.H27H NA NA 6p22.1 NA Name=E2F6_(H-50),ETS1,Pol2(b),TAF1,POU2F2,ZBTB33,HMGN3,GABP,NRSF,SP1,CTCF_(SC-5916),Pol2,YY1,Sin3Ak-20,HA-E2F1,YY1_(C-20),Pol2-4H8,ZNF263,HDAC2_(SC-6296),c-Myc,CCNT2,ZBTB7A_(SC-34508),NFKB,ZEB1_(SC-25388),HEY1,ELF1_(SC-631),PAX5-C20,Oct-2,TBP,CHD2_(N-1250),GTF2F1_(RAP-74),IRF1 Name=140 NA rs45626136 0.04 0.04 0.028 0.0347444 0.0636 0.0476 0.0231 0.0023 0.044 0.07 0.05 0.02 0.01 0.051 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467186 NA NA 0.044323 0.010894 NA 0.022 NA 6.6744103 985 2 43801712 43801712 A G exonic THADA NA synonymous SNV THADA:NM_001083953:exon11:c.T1492C:p.L498L,THADA:NM_001271643:exon11:c.T1492C:p.L498L,THADA:NM_001271644:exon11:c.T1492C:p.L498L,THADA:NM_022065:exon11:c.T1492C:p.L498L exonic ENSG00000115970 NA synonymous SNV ENSG00000115970:ENST00000402796:exon1:c.T241C:p.L81L,ENSG00000115970:ENST00000330266:exon2:c.T622C:p.L208L,ENSG00000115970:ENST00000402360:exon10:c.T1492C:p.L498L,ENSG00000115970:ENST00000404790:exon11:c.T1492C:p.L498L,ENSG00000115970:ENST00000405006:exon11:c.T1492C:p.L498L,ENSG00000115970:ENST00000405975:exon11:c.T1492C:p.L498L,ENSG00000115970:ENST00000415080:exon11:c.T622C:p.L208L,ENSG00000115970:ENST00000403856:exon12:c.T1492C:p.L498L Score=528;Name=lod=186 NA 2p21 Score=861;Name=V$STAT5A_01 NA NA NA rs11899823 0.32 0.32 0.326 0.344649 0.34 0.2649 0.2305 0.3986 0.4397 0.34 0.29 0.26 0.39 0.3134 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014909 NA NA 0.339395 0.366955 NA 0.341 NA 6.6738716 985 21 44837555 44837555 G A exonic SIK1 NA nonsynonymous SNV SIK1:NM_173354:exon13:c.C1844T:p.A615V exonic ENSG00000142178 NA nonsynonymous SNV ENSG00000142178:ENST00000270162:exon13:c.C1844T:p.A615V NA NA 21q22.3 NA NA NA NA rs430554 0.84 0.84 0.876 0.830671 0.8797 0.8958 0.9092 0.7057 0.8262 0.87 0.88 0.88 0.73 0.89 0.89 0.21 T 0.281 B 0.075 B 0.280 U 1.000 P 1.15 L -0.59 T -1.004 T 0.000 T 0.027 0.967 8.946 2.25 0.421 5.716 10.627 0.966961 NA NA 0.890087 0.757401 NA 0.717 NA 6.6735464 985 16 55519535 55519535 G C exonic MMP2 NA synonymous SNV MMP2:NM_001127891:exon5:c.G528C:p.G176G,MMP2:NM_004530:exon5:c.G678C:p.G226G exonic ENSG00000087245 NA synonymous SNV ENSG00000087245:ENST00000219070:exon5:c.G678C:p.G226G,ENSG00000087245:ENST00000437642:exon5:c.G528C:p.G176G,ENSG00000087245:ENST00000543485:exon5:c.G450C:p.G150G,ENSG00000087245:ENST00000564864:exon5:c.G450C:p.G150G,ENSG00000087245:ENST00000570308:exon6:c.G450C:p.G150G Score=618;Name=lod=433 NA 16q12.2 Score=948;Name=V$IK2_01 NA NA NA rs1132896 0.24 0.24 0.208 0.20008 0.3469 0.13 0.3919 0.031 0.2137 0.38 0.15 0.37 0.03 0.3013 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897697 NA NA 0.345116 0.08394 NA 0.217 NA 6.6733506 985 16 69782855 69782855 C T exonic NOB1 NA nonsynonymous SNV NOB1:NM_014062:exon6:c.G692A:p.R231Q exonic ENSG00000141101 NA nonsynonymous SNV ENSG00000141101:ENST00000268802:exon6:c.G692A:p.R231Q NA NA 16q22.1 Score=784;Name=V$ARNT_02 NA NA NA rs3811348 0.37 0.37 0.357 0.34385 0.5736 0.2341 0.4899 0.0983 0.4489 0.6 0.23 0.48 0.12 0.5178 0.6 . . 0.003 B 0.002 B 0.283 N 1.000 P -1.37 N 1.69 T -0.968 T 0.000 T 0.041 0.32 5.737 1.11 0.315 -0.419 4.622 0.320468 NA 0.39 0.570465 0.180164 NA 0.297 NA 6.6714684 985 1 7913430 7913430 G A exonic UTS2 NA nonsynonymous SNV UTS2:NM_021995:exon1:c.C62T:p.T21M exonic ENSG00000049247 NA nonsynonymous SNV ENSG00000049247:ENST00000054668:exon1:c.C62T:p.T21M NA NA 1p36.23 NA NA NA NA rs228648 0.46 0.46 0.491 0.478435 0.5706 0.3522 0.4092 0.4259 0.6339 0.58 0.32 0.46 0.43 0.5229 0.58 0.12 T 0.216 B 0.023 B . . 1.000 P . . 1.34 T -0.943 T 0.000 T 0.053 0.439 6.386 -3.06 -0.941 -0.446 10.906 0.439311 NA 0.03 0.569186 0.474126 NA 0.558 NA 6.6706474 985 10 37505159 37505159 G A exonic ANKRD30A NA nonsynonymous SNV ANKRD30A:NM_052997:exon32:c.G2752A:p.A918T exonic ENSG00000148513 NA nonsynonymous SNV ENSG00000148513:ENST00000361713:exon32:c.G2752A:p.A918T,ENSG00000148513:ENST00000602533:exon32:c.G2752A:p.A918T,ENSG00000148513:ENST00000374660:exon38:c.G3109A:p.A1037T NA NA 10p11.21 NA NA NA NA rs34552277 0.23 0.23 0.247 0.227636 0.2227 0.1558 0.1556 0.4145 0.1053 0.22 0.14 0.2 0.39 0.2069 0.39 0.57 T 0.127 B 0.04 B . . 1.000 P 0.145 N 3.31 T -0.937 T 0.000 T 0.045 -0.804 0.666 -0.004 -0.250 -0.375 3.881 -0.803974 NA 0.23 0.233358 0.391075 NA 0.275 NA 6.6703754 985 7 1131411 1131411 C T exonic GPER NA nonsynonymous SNV GPER:NM_001098201:exon2:c.C47T:p.P16L,GPER:NM_001505:exon2:c.C47T:p.P16L,GPER:NM_001039966:exon3:c.C47T:p.P16L exonic ENSG00000164850 NA nonsynonymous SNV ENSG00000164850:ENST00000297469:exon2:c.C47T:p.P16L,ENSG00000164850:ENST00000397088:exon2:c.C47T:p.P16L,ENSG00000164850:ENST00000401670:exon2:c.C47T:p.P16L,ENSG00000164850:ENST00000397092:exon3:c.C47T:p.P16L,ENSG00000164850:ENST00000413368:exon3:c.C47T:p.P16L NA NA 7p22.3 NA NA NA NA rs11544331 0.15 0.15 0.154 0.138978 0.2048 0.0248 0.2104 0.1021 0.1881 0.22 0.03 0.18 0.14 0.2133 0.27 0.26 T 0.001 B 0.001 B 0.408 N 1.000 P 0 N 1.03 T -1.067 T 0.000 T 0.263 1.491 10.93 -0.101 -0.347 0.053 8.877 1.490502 1.490502 0.18 0.244884 0.115123 NA 0.254 NA 6.6703494 985 6 26045929 26045929 T C exonic HIST1H3C NA synonymous SNV HIST1H3C:NM_003531:exon1:c.T291C:p.C97C exonic ENSG00000196532 NA synonymous SNV ENSG00000196532:ENST00000540144:exon1:c.T291C:p.C97C Score=741;Name=lod=1373 NA 6p22.2 NA Name=CTCF,NFKB,HEY1,ELF1_(SC-631),CTCF_(C-20),Pol2,Pol2(phosphoS2),BCLAF1_(M33-P5B11),Pol2-4H8,ZBTB33,USF2 Name=134 NA rs3752416 0.72 0.72 0.658 0.705272 0.6531 0.8423 0.6902 0.7133 0.6176 0.64 0.87 0.68 0.71 0.6713 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266311 NA NA 0.673953 0.718793 NA 0.645 NA 6.6683136 985 16 1614097 1614097 A G exonic IFT140 NA synonymous SNV IFT140:NM_014714:exon17:c.T1968C:p.S656S exonic ENSG00000187535 NA synonymous SNV ENSG00000187535:ENST00000426508:exon17:c.T1968C:p.S656S NA NA 16p13.3 Score=843;Name=V$GR_Q6 NA NA NA rs8048410 0.46 0.46 0.471 0.505192 0.2982 0.5675 0.3934 0.7179 0.4458 0.29 0.54 0.38 0.71 0.3909 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634243 NA NA 0.31 0.643929 NA 0.406 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117257.2;CLNDSDB=.;CLNDSDBID=. 6.6675666 985 19 50358133 50358133 T G exonic PTOV1 NA synonymous SNV PTOV1:NM_017432:exon4:c.T438G:p.P146P exonic ENSG00000104960 NA synonymous SNV ENSG00000104960:ENST00000600793:exon3:c.T267G:p.P89P,ENSG00000104960:ENST00000221557:exon4:c.T342G:p.P114P,ENSG00000104960:ENST00000391842:exon4:c.T438G:p.P146P,ENSG00000104960:ENST00000594151:exon4:c.T483G:p.P161P,ENSG00000104960:ENST00000599732:exon4:c.T438G:p.P146P,ENSG00000104960:ENST00000600603:exon4:c.T342G:p.P114P,ENSG00000104960:ENST00000601612:exon4:c.T342G:p.P114P,ENSG00000104960:ENST00000601638:exon4:c.T342G:p.P114P,ENSG00000104960:ENST00000601675:exon4:c.T438G:p.P146P Score=557;Name=lod=245 NA 19q13.33 Score=888;Name=V$E47_02 NA NA NA rs75478119 0.3 0.3 0.308 0.359425 0.3171 0.2877 0.2392 0.4123 0.4908 0.31 0.28 0.25 0.35 0.3422 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762087 NA NA 0.339846 0.403314 NA 0.167 NA 6.6675206 985 20 1459060 1459060 T G exonic SIRPB2 NA nonsynonymous SNV SIRPB2:NM_001122962:exon3:c.A644C:p.E215A,SIRPB2:NM_001134836:exon3:c.A350C:p.E117A exonic ENSG00000196209 NA nonsynonymous SNV ENSG00000196209:ENST00000359801:exon3:c.A644C:p.E215A,ENSG00000196209:ENST00000381630:exon3:c.A350C:p.E117A,ENSG00000196209:ENST00000444444:exon3:c.A350C:p.E117A,ENSG00000196209:ENST00000481731:exon3:c.A644C:p.E215A,ENSG00000196209:ENST00000486775:exon3:c.A644C:p.E215A,ENSG00000196209:ENST00000537284:exon4:c.A230C:p.E77A NA Name=Circulating myeloperoxidase levels (serum) 20p13 NA NA NA NA rs6042507 0.93 0.93 0.934 0.953075 0.8658 0.996 0.9193 0.9864 0.9775 0.86 0.99 0.91 0.98 0.915 0.99 0.46 T 0.0 B 0.001 B 0.746 N 1.000 P 0.425 N -0.15 T -0.979 T 0.000 T 0.06 -0.495 1.729 2.96 0.251 0.665 3.080 -0.494639 NA 0.34 0.88526 0.977679 NA 0.964 NA 6.6672734 985 19 43243238 43243238 A G exonic PSG3 NA nonsynonymous SNV PSG3:NM_021016:exon2:c.T68C:p.L23S exonic ENSG00000221826 NA nonsynonymous SNV ENSG00000221826:ENST00000327495:exon2:c.T68C:p.L23S,ENSG00000221826:ENST00000595140:exon2:c.T68C:p.L23S Score=304;Name=lod=23 NA 19q13.2 NA NA NA NA rs11559136 0.56 0.56 0.48 0.656949 0.5507 0.4772 0.6571 0.8911 0.635 0.52 0.39 0.57 0.81 0.5883 0.82 1 T 0.0 B 0.0 B . . 1.000 P -2.765 N 2.42 T -0.996 T 0.000 T 0.046 -1.692 0.011 1.39 0.159 0.257 3.985 -1.692074 NA 1 0.527338 0.822808 NA 0.449 NA 6.6669954 985 7 142498833 142498833 A T intergenic PRSS3P2,EPHB6 dist=16434;dist=53959 NA NA exonic ENSG00000211772 NA unknown UNKNOWN Score=472;Name=lod=110 NA 7q34 NA Name=THAP1_(SC-98174),USF-1,E2F6_(H-50) Name=7 NA rs1042956 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.138672 2.138672 0.6 NA NA NA 0.152 NA 6.6666667 985 1 16953672 16953672 C T ncRNA_exonic CROCCP2 NA NA NA ncRNA_exonic ENSG00000215908 NA NA NA Score=450;Name=lod=90 NA 1p36.13 Score=780;Name=V$HTF_01 NA NA NA rs3738597 NA NA 0.151 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136093 NA NA NA NA NA 0.116 NA 6.6666666 985 2 91845440 91845440 C T ncRNA_intronic LOC654342 NA NA NA ncRNA_intronic ENSG00000143429 NA NA NA NA NA 2p11.1 NA Name=HNF4G_(SC-6558),ELF1_(SC-631),RXRA,CEBPB,p300,TCF12,HNF4A_(H-171),TAF1,FOSL2,HDAC2_(SC-6296),Sin3Ak-20,SP1 Name=77 NA rs2908255 0.03 0.03 0.026 NA NA NA NA NA NA 0.07 0.01 0.02 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232584 NA NA NA NA NA 0.014 NA 6.6666666 985 3 39175810 39175810 C T exonic TTC21A NA synonymous SNV TTC21A:NM_001105513:exon20:c.C2730T:p.T910T,TTC21A:NM_145755:exon21:c.C2874T:p.T958T exonic ENSG00000168026 NA synonymous SNV ENSG00000168026:ENST00000440121:exon20:c.C2730T:p.T910T,ENSG00000168026:ENST00000301819:exon21:c.C2877T:p.T959T,ENSG00000168026:ENST00000430597:exon21:c.C2853T:p.T951T,ENSG00000168026:ENST00000431162:exon21:c.C2874T:p.T958T NA NA 3p22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.405211 NA NA NA NA NA NA NA 6.6666666 985 3 168384563 168384563 G T ncRNA_intronic EGFEM1P NA NA NA ncRNA_exonic ENSG00000226765 NA NA NA Score=777;Name=lod=1922 NA 3q26.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083733 NA NA NA NA NA NA NA 6.6666666 985 6 129813620 129813620 C T exonic LAMA2 NA synonymous SNV LAMA2:NM_001079823:exon57:c.C8224T:p.L2742L,LAMA2:NM_000426:exon58:c.C8236T:p.L2746L exonic ENSG00000196569 NA synonymous SNV ENSG00000196569:ENST00000421865:exon58:c.C8236T:p.L2746L NA NA 6q22.33 NA NA Name=19 NA rs3189618 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729104 NA NA NA NA NA NA NA 6.6666666 985 7 76631509 76631509 C T ncRNA_exonic DTX2P1-UPK3BP1-PMS2P11 NA NA NA ncRNA_exonic ENSG00000186704,ENSG00000265479 NA NA NA NA NA 7q11.23 NA Name=ERalpha_a,c-Myc Name=4 NA rs7784461 0.36 0.36 0.324 NA NA NA NA NA NA 0.39 0.23 0.33 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624211 NA NA NA NA ID=COSM453408;OCCURENCE=1(breast),1(lung) 0.051 NA 6.6666666 985 9 68433522 68433522 G A ncRNA_exonic LOC642236 NA NA NA ncRNA_exonic ENSG00000215548 NA NA NA Score=603;Name=lod=375 NA 9q13 Score=878;Name=V$OCT1_06 NA NA NA rs75582795 NA NA 0.191 0.00299521 NA NA 0.0029 0.0098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476339 NA NA NA NA NA NA NA 6.6666666 985 10 17083149 17083149 A G exonic CUBN NA synonymous SNV CUBN:NM_001081:exon27:c.T3900C:p.Y1300Y exonic ENSG00000107611 NA synonymous SNV ENSG00000107611:ENST00000377833:exon27:c.T3900C:p.Y1300Y NA NA 10p13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425768 NA NA NA NA NA NA NA 6.6666666 985 10 42832258 42832258 C T ncRNA_exonic LOC441666 NA NA NA ncRNA_exonic ENSG00000215146 NA NA NA Score=374;Name=lod=44 NA 10q11.21 NA Name=ZNF274 NA NA rs73253652 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304098 NA NA NA NA NA 0.014 NA 6.6666666 985 13 21951700 21951700 C T ncRNA_intronic MIPEPP3 NA NA NA ncRNA_intronic ENSG00000236953 NA NA NA Score=265;Name=lod=16 NA 13q12.11 NA NA Name=5 NA rs5027595 NA NA 0.345 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482766 NA NA NA NA NA NA NA 6.6666666 985 14 58737788 58737788 C G ncRNA_intronic FLJ31306 NA NA NA ncRNA_intronic ENSG00000257621 NA NA NA NA NA 14q23.1 NA Name=Pol2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930614 NA NA NA NA NA NA NA 6.6666666 985 15 22546658 22546658 G A ncRNA_exonic REREP3 NA NA NA ncRNA_exonic ENSG00000259098 NA NA NA Score=780;Name=lod=1971 NA 15q11.2 NA Name=USF1_(SC-8983) NA NA rs4779392 0.36 0.36 0.307 NA NA NA NA NA NA 0.5 0.31 0.43 0.14 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.020702 NA NA NA NA NA 0.254 NA 6.6666666 985 15 78209526 78209526 T C ncRNA_intronic LOC645752 NA NA NA ncRNA_intronic ENSG00000260776,ENSG00000261244 NA NA NA Score=401;Name=lod=57 NA 15q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474785 NA NA NA NA NA NA NA 6.6666666 985 19 44536725 44536725 T C exonic ZNF222 NA synonymous SNV ZNF222:NM_001129996:exon4:c.T1018C:p.L340L,ZNF222:NM_013360:exon4:c.T898C:p.L300L exonic ENSG00000159885 NA synonymous SNV ENSG00000159885:ENST00000187879:exon4:c.T898C:p.L300L,ENSG00000159885:ENST00000391960:exon4:c.T1018C:p.L340L NA NA 19q13.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139963 NA NA NA NA NA NA NA 6.6666666 985 20 29637917 29637917 T A ncRNA_exonic MLLT10P1 NA NA NA ncRNA_exonic ENSG00000238151 NA NA NA NA NA 20q11.21 NA Name=BRF2,ZZZ3,IRF3,TAF1,BDP1,BRF1 Name=87 NA rs74459129 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162884 NA NA NA NA NA NA NA 6.6666666 985 20 29637960 29637960 G A ncRNA_exonic MLLT10P1 NA NA NA ncRNA_exonic ENSG00000238151 NA NA NA NA NA 20q11.21 NA Name=TAF1,BDP1,BRF1,ZZZ3,BRF2,IRF3 Name=87 NA rs80038911 NA NA 0.388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871918 NA NA NA NA NA NA NA 6.6666666 985 22 17127446 17127446 G A ncRNA_intronic TPTEP1 NA NA NA ncRNA_exonic ENSG00000249288 NA NA NA Score=565;Name=lod=264 NA 22q11.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383247 NA NA NA NA NA NA NA 6.6666666 985 4 8401310 8401310 G A exonic ACOX3 NA synonymous SNV ACOX3:NM_001101667:exon8:c.C846T:p.P282P,ACOX3:NM_003501:exon8:c.C846T:p.P282P exonic ENSG00000087008 NA synonymous SNV ENSG00000087008:ENST00000356406:exon8:c.C846T:p.P282P,ENSG00000087008:ENST00000413009:exon8:c.C846T:p.P282P,ENSG00000087008:ENST00000503233:exon8:c.C846T:p.P282P NA NA 4p16.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008249 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773892 NA NA NA NA NA NA NA 6.6666584 985 8 105459708 105459708 A G exonic DPYS NA synonymous SNV DPYS:NM_001385:exon3:c.T447C:p.L149L exonic ENSG00000147647 NA synonymous SNV ENSG00000147647:ENST00000521573:exon2:c.T288C:p.L96L,ENSG00000147647:ENST00000351513:exon3:c.T447C:p.L149L NA NA 8q22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013054 NA NA NA NA NA NA NA 6.6666584 985 2 217280117 217280117 C T exonic SMARCAL1 NA synonymous SNV SMARCAL1:NM_001127207:exon3:c.C690T:p.V230V,SMARCAL1:NM_014140:exon3:c.C690T:p.V230V exonic ENSG00000138375 NA synonymous SNV ENSG00000138375:ENST00000392128:exon1:c.C282T:p.V94V,ENSG00000138375:ENST00000427645:exon1:c.C387T:p.V129V,ENSG00000138375:ENST00000357276:exon3:c.C690T:p.V230V,ENSG00000138375:ENST00000358207:exon3:c.C690T:p.V230V NA NA 2q35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163757 NA NA NA NA NA NA NA 6.6666501 985 9 2077644 2077644 C T exonic SMARCA2 NA synonymous SNV SMARCA2:NM_003070:exon14:c.C2052T:p.D684D,SMARCA2:NM_139045:exon14:c.C2052T:p.D684D exonic ENSG00000080503 NA synonymous SNV ENSG00000080503:ENST00000382194:exon13:c.C2052T:p.D684D,ENSG00000080503:ENST00000349721:exon14:c.C2052T:p.D684D,ENSG00000080503:ENST00000357248:exon14:c.C2052T:p.D684D,ENSG00000080503:ENST00000382203:exon14:c.C2052T:p.D684D Score=547;Name=lod=223 NA 9p24.3 NA NA NA NA rs149890563 0.0005 0.0005 0 0.000199681 NA NA NA 0.0008 NA NA NA NA 0.002 0.00001648 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595623 NA NA NA NA NA NA NA 6.6666501 985 3 53326567 53326567 C T exonic DCP1A NA synonymous SNV DCP1A:NM_018403:exon7:c.G915A:p.K305K exonic ENSG00000162290 NA synonymous SNV ENSG00000162290:ENST00000606822:exon6:c.G801A:p.K267K,ENSG00000162290:ENST00000294241:exon7:c.G915A:p.K305K,ENSG00000162290:ENST00000607628:exon7:c.G915A:p.K305K Score=295;Name=lod=21 NA 3p21.1 NA NA NA NA rs200307108 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001659 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.395762 2.395762 NA NA NA NA NA NA 6.66665 985 9 38395910 38395910 G A exonic ALDH1B1 NA synonymous SNV ALDH1B1:NM_000692:exon2:c.G165A:p.P55P exonic ENSG00000137124 NA synonymous SNV ENSG00000137124:ENST00000377698:exon2:c.G165A:p.P55P NA NA 9p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.349347 NA NA NA NA NA NA NA 6.6666419 985 19 35786682 35786682 G A exonic MAG NA synonymous SNV MAG:NM_001199216:exon4:c.G138A:p.P46P,MAG:NM_002361:exon4:c.G213A:p.P71P,MAG:NM_080600:exon4:c.G213A:p.P71P exonic ENSG00000105695 NA synonymous SNV ENSG00000105695:ENST00000600291:exon3:c.G138A:p.P46P,ENSG00000105695:ENST00000361922:exon4:c.G213A:p.P71P,ENSG00000105695:ENST00000392213:exon4:c.G213A:p.P71P,ENSG00000105695:ENST00000537831:exon4:c.G138A:p.P46P,ENSG00000105695:ENST00000595791:exon4:c.G213A:p.P71P NA NA 19q13.12 Score=867;Name=V$SPZ1_01 NA NA NA rs199750254 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.00002476 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174811 NA NA NA NA ID=COSM994929,COSM994928;OCCURENCE=1(large_intestine),1(endometrium) NA NA 6.6666418 985 17 8046779 8046779 G A exonic PER1 NA synonymous SNV PER1:NM_002616:exon19:c.C2877T:p.P959P exonic ENSG00000179094 NA synonymous SNV ENSG00000179094:ENST00000581082:exon18:c.C2808T:p.P936P,ENSG00000179094:ENST00000317276:exon19:c.C2877T:p.P959P NA NA 17p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003935 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.515826 NA NA NA NA NA NA NA 6.6666273 985 6 2959513 2959513 C T exonic SERPINB6 NA synonymous SNV SERPINB6:NM_001271822:exon2:c.G96A:p.T32T,SERPINB6:NM_001271823:exon2:c.G111A:p.T37T,SERPINB6:NM_001271824:exon2:c.G54A:p.T18T,SERPINB6:NM_001271825:exon2:c.G54A:p.T18T,SERPINB6:NM_004568:exon2:c.G54A:p.T18T,SERPINB6:NM_001195291:exon3:c.G66A:p.T22T exonic ENSG00000124570 NA synonymous SNV ENSG00000124570:ENST00000380520:exon1:c.G54A:p.T18T,ENSG00000124570:ENST00000335686:exon2:c.G54A:p.T18T,ENSG00000124570:ENST00000380524:exon2:c.G54A:p.T18T,ENSG00000124570:ENST00000380529:exon2:c.G54A:p.T18T,ENSG00000124570:ENST00000380539:exon2:c.G54A:p.T18T,ENSG00000124570:ENST00000380546:exon2:c.G54A:p.T18T NA NA 6p25.2 NA NA NA NA rs2236277 0.34 0.34 0.313 0.341254 0.338 0.4841 0.4539 0.1513 0.3742 0.31 0.48 0.45 0.12 0.341 0.48 . . . . . . . . 0.999 P . . . . -1.015 T 0.029 T . 0.615 7.31 -1.14 -0.034 -0.626 4.027 0.614766 NA NA 0.321047 0.182705 ID=COSM150035;OCCURENCE=1(stomach) 0.275 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037111.1;CLNDSDB=.;CLNDSDBID=. 6.6666196 985 22 19967453 19967453 C T exonic ARVCF NA synonymous SNV ARVCF:NM_001670:exon6:c.G1209A:p.P403P exonic ENSG00000099889 NA synonymous SNV ENSG00000099889:ENST00000344269:exon4:c.G1020A:p.P340P,ENSG00000099889:ENST00000401994:exon4:c.G1020A:p.P340P,ENSG00000099889:ENST00000406259:exon4:c.G1209A:p.P403P,ENSG00000099889:ENST00000406522:exon4:c.G1020A:p.P340P,ENSG00000099889:ENST00000263207:exon6:c.G1209A:p.P403P NA NA 22q11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006909 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390619 NA NA NA NA NA NA NA 6.6665975 985 9 74300191 74300191 G A exonic TMEM2 NA synonymous SNV TMEM2:NM_001135820:exon23:c.C3885T:p.D1295D,TMEM2:NM_013390:exon24:c.C4074T:p.D1358D exonic ENSG00000135048 NA synonymous SNV ENSG00000135048:ENST00000396272:exon7:c.C1053T:p.D351D,ENSG00000135048:ENST00000377066:exon23:c.C3885T:p.D1295D,ENSG00000135048:ENST00000377044:exon24:c.C4074T:p.D1358D NA NA 9q21.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00007417 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162327 NA NA NA NA NA NA NA 6.6665924 985 21 43531675 43531675 C T exonic UMODL1 NA synonymous SNV UMODL1:NM_001199527:exon11:c.C2127T:p.T709T,UMODL1:NM_173568:exon11:c.C2343T:p.T781T,UMODL1:NM_001004416:exon12:c.C1959T:p.T653T,UMODL1:NM_001199528:exon12:c.C1743T:p.T581T exonic ENSG00000177398 NA synonymous SNV ENSG00000177398:ENST00000400427:exon11:c.C2127T:p.T709T,ENSG00000177398:ENST00000408989:exon11:c.C2343T:p.T781T,ENSG00000177398:ENST00000400424:exon12:c.C1743T:p.T581T,ENSG00000177398:ENST00000408910:exon12:c.C1959T:p.T653T NA NA 21q22.3 NA Name=EBF NA NA rs201648916 0.0005 0.0005 NA 0.000399361 NA NA NA 0.0015 NA NA NA NA 0.002 0.0001 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005235 NA NA NA NA NA NA NA 6.6665666 985 1 28599160 28599160 C T exonic SESN2 NA synonymous SNV SESN2:NM_031459:exon5:c.C606T:p.T202T exonic ENSG00000130766 NA synonymous SNV ENSG00000130766:ENST00000253063:exon5:c.C606T:p.T202T Score=496;Name=lod=138 NA 1p35.3 NA NA NA NA rs147643685 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003296 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.240248 1.240248 NA 0.000116 0.000227 NA NA NA 6.6665176 985 8 75929142 75929142 T C exonic CRISPLD1 NA synonymous SNV CRISPLD1:NM_031461:exon8:c.T895C:p.L299L exonic ENSG00000121005 NA synonymous SNV ENSG00000121005:ENST00000517786:exon6:c.T337C:p.L113L,ENSG00000121005:ENST00000523524:exon7:c.T331C:p.L111L,ENSG00000121005:ENST00000262207:exon8:c.T895C:p.L299L Score=560;Name=lod=251 NA 8q21.11 NA NA NA NA rs200626463 0.0005 0.0005 NA NA NA NA NA NA NA NA NA 0.0028 NA 0.0002 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411363 NA NA 0.000118 0 NA NA NA 6.6663486 985 15 80464532 80464532 C A exonic FAH NA synonymous SNV FAH:NM_000137:exon8:c.C648A:p.I216I exonic ENSG00000103876 NA synonymous SNV ENSG00000103876:ENST00000539156:exon7:c.C438A:p.I146I,ENSG00000103876:ENST00000561421:exon8:c.C648A:p.I216I,ENSG00000103876:ENST00000261755:exon9:c.C648A:p.I216I,ENSG00000103876:ENST00000407106:exon9:c.C648A:p.I216I Score=440;Name=lod=82 NA 15q25.1 NA NA NA NA rs147016995 0.0014 0.0014 0.003 0.000399361 NA NA NA 0.0015 NA NA NA NA 0.01 0.00009063 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224893 NA NA 0.000233 0 NA 0.007 NA 6.666343 985 12 7361754 7361754 C T exonic PEX5 NA synonymous SNV PEX5:NM_000319:exon13:c.C1524T:p.S508S,PEX5:NM_001131024:exon13:c.C1437T:p.S479S,PEX5:NM_001131023:exon14:c.C1593T:p.S531S,PEX5:NM_001131025:exon14:c.C1548T:p.S516S,PEX5:NM_001131026:exon15:c.C1548T:p.S516S exonic ENSG00000139197 NA synonymous SNV ENSG00000139197:ENST00000266563:exon13:c.C1437T:p.S479S,ENSG00000139197:ENST00000266564:exon13:c.C1524T:p.S508S,ENSG00000139197:ENST00000412720:exon14:c.C1611T:p.S537S,ENSG00000139197:ENST00000420616:exon14:c.C1548T:p.S516S,ENSG00000139197:ENST00000434354:exon14:c.C1593T:p.S531S,ENSG00000139197:ENST00000455147:exon15:c.C1548T:p.S516S Score=533;Name=lod=195 NA 12p13.31 NA NA NA NA rs143571888 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934377 NA NA 0.000233 0.000454 NA NA NA 6.6661336 985 20 30433352 30433352 C T UTR5 FOXS1 NM_004118:c.-7G>A NA NA UTR5 ENSG00000179772 ENST00000375978:c.-7G>A NA NA Score=389;Name=lod=51 NA 20q11.21 NA Name=Pol2 Name=37 NA rs6121246 0.23 0.23 0.254 0.221246 0.2485 NA 0.1599 0.5257 0.0532 0.25 NA 0.17 0.53 0.2057 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557165 NA NA 0.21319 0.439254 NA 0.167 NA 6.6659434 985 1 6659505 6659505 G A exonic KLHL21 NA synonymous SNV KLHL21:NM_014851:exon2:c.C1029T:p.S343S exonic ENSG00000162413 NA synonymous SNV ENSG00000162413:ENST00000377658:exon2:c.C1029T:p.S343S,ENSG00000162413:ENST00000377663:exon2:c.C1029T:p.S343S NA NA 1p36.31 NA Name=CTCF,Egr-1 Name=71 NA rs2232460 0.31 0.31 0.316 0.347444 0.3171 0.38 0.3127 0.267 0.4785 0.32 0.37 0.29 0.24 0.3456 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.436702 2.436702 NA 0.33814 0.269178 ID=COSM426608;OCCURENCE=1(breast) 0.391 NA 6.6658266 985 15 78209350 78209350 C G ncRNA_intronic LOC645752 NA NA NA ncRNA_intronic ENSG00000260776,ENSG00000261244 NA NA NA NA NA 15q24.3 Score=955;Name=V$ZIC1_01 NA NA NA NA NA NA NA 0.00159744 NA NA NA NA 0.0082 NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409511 NA NA NA NA NA NA NA 6.6656666 985 17 56688605 56688605 G A exonic TEX14 NA synonymous SNV TEX14:NM_001201457:exon10:c.C1119T:p.I373I,TEX14:NM_031272:exon10:c.C1101T:p.I367I,TEX14:NM_198393:exon10:c.C1101T:p.I367I exonic ENSG00000121101 NA synonymous SNV ENSG00000121101:ENST00000240361:exon10:c.C1119T:p.I373I,ENSG00000121101:ENST00000349033:exon10:c.C1101T:p.I367I,ENSG00000121101:ENST00000389934:exon10:c.C1101T:p.I367I Score=451;Name=lod=91 NA 17q22 NA NA NA NA rs192936672 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117293 NA NA NA NA NA NA NA 6.6654666 985 1 55224346 55224346 C T exonic PARS2 NA synonymous SNV PARS2:NM_152268:exon2:c.G489A:p.T163T exonic ENSG00000162396 NA synonymous SNV ENSG00000162396:ENST00000371279:exon2:c.G489A:p.T163T NA NA 1p32.3 Score=761;Name=V$TCF11MAFG_01 NA NA NA rs145967472 0.0014 0.0014 NA 0.00119808 NA NA NA 0.0045 NA NA NA NA 0.01 0.0009 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.40927 NA NA 0.000349 0.01044 NA NA NA 6.6654176 985 19 52825796 52825796 A G exonic ZNF480 NA synonymous SNV ZNF480:NM_144684:exon5:c.A1293G:p.E431E exonic ENSG00000198464 NA synonymous SNV ENSG00000198464:ENST00000335090:exon3:c.A1062G:p.E354E,ENSG00000198464:ENST00000334564:exon4:c.A1164G:p.E388E,ENSG00000198464:ENST00000468240:exon5:c.A1293G:p.E431E,ENSG00000198464:ENST00000595962:exon5:c.A1293G:p.E431E NA NA 19q13.41 NA Name=SETDB1 NA NA rs150701576 0.0018 0.0018 0.002 0.00259585 NA NA NA 0.0098 NA NA NA NA 0.01 0.0008 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378952 NA NA 0.000465 0.00522 NA NA NA 6.6654016 985 1 109805587 109805587 G T exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon7:c.G4704T:p.V1568V exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon7:c.G4704T:p.V1568V Score=395;Name=lod=54 NA 1p13.3 NA NA NA NA rs200841982 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774455 NA NA 0.000116 0 NA NA NA 6.6653506 985 13 33273973 33273973 A C exonic PDS5B NA synonymous SNV PDS5B:NM_015032:exon16:c.A1707C:p.P569P exonic ENSG00000083642 NA synonymous SNV ENSG00000083642:ENST00000315596:exon16:c.A1707C:p.P569P,ENSG00000083642:ENST00000450460:exon16:c.A1707C:p.P569P Score=701;Name=lod=941 NA 13q13.1 NA NA NA NA rs371816913 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.263981 1.263981 NA 0.000123 0 NA NA NA 6.6652436 985 3 46593058 46593058 G A exonic LRRC2 NA synonymous SNV LRRC2:NM_024512:exon2:c.C24T:p.F8F exonic ENSG00000163827 NA synonymous SNV ENSG00000163827:ENST00000296144:exon2:c.C24T:p.F8F,ENSG00000163827:ENST00000395905:exon2:c.C24T:p.F8F Score=428;Name=lod=73 NA 3p21.31 NA NA NA NA rs146344015 NA NA NA 0.000599042 0.001 NA NA NA 0.002 NA NA NA NA 0.0002 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099416 NA NA 0.000349 0.000227 NA NA NA 6.6651176 985 10 87373299 87373299 G A exonic GRID1 NA synonymous SNV GRID1:NM_017551:exon15:c.C2466T:p.D822D exonic ENSG00000182771 NA synonymous SNV ENSG00000182771:ENST00000536331:exon8:c.C1179T:p.D393D,ENSG00000182771:ENST00000327946:exon15:c.C2466T:p.D822D Score=516;Name=lod=166 NA 10q23.1 NA NA NA NA rs150033140 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053053 NA NA 0.000349 0 NA NA NA 6.6651176 986 19 41269551 41269551 C T exonic SNRPA NA synonymous SNV SNRPA:NM_004596:exon5:c.C660T:p.N220N exonic ENSG00000077312 NA synonymous SNV ENSG00000077312:ENST00000243563:exon5:c.C660T:p.N220N,ENSG00000077312:ENST00000601393:exon5:c.C597T:p.N199N,ENSG00000077312:ENST00000601545:exon5:c.C510T:p.N170N Score=591;Name=lod=337 NA 19q13.2 NA NA NA NA rs116493527 0.01 0.01 0.009 0.00519169 NA 0.003 0.0058 0.0144 NA NA 0.0035 0.01 0.02 0.0017 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166233 NA NA 0.000116 0.011348 NA NA NA 6.6648506 986 11 62621309 62621309 G A ncRNA_intronic SNHG1 NA NA NA ncRNA_exonic ENSG00000255717 NA NA NA NA NA 11q12.3 NA Name=BCLAF1_(M33-P5B11),TAF7_(SQ-8),Pol2,Pol2-4H8 Name=6 NA rs560006 0.03 0.03 0.027 0.0229633 0.002 NA 0.0101 0.0802 NA 0.01 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239041 NA NA NA NA NA 0.029 NA 6.6646666 986 19 33703254 33703254 G A exonic SLC7A10 NA synonymous SNV SLC7A10:NM_019849:exon5:c.C732T:p.A244A exonic ENSG00000130876 NA synonymous SNV ENSG00000130876:ENST00000253188:exon5:c.C732T:p.A244A,ENSG00000130876:ENST00000590036:exon5:c.C732T:p.A244A Score=618;Name=lod=434 NA 19q13.11 NA NA NA NA rs115581846 0.01 0.01 0.007 0.00658946 NA NA 0.0014 0.0242 NA NA NA 0.0028 0.02 0.0021 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511205 1.511205 NA 0.000349 0.0202 NA 0.014 NA 6.6642176 986 1 205764031 205764031 G A exonic SLC41A1 NA synonymous SNV SLC41A1:NM_173854:exon10:c.C1323T:p.F441F exonic ENSG00000133065 NA synonymous SNV ENSG00000133065:ENST00000367137:exon10:c.C1323T:p.F441F Score=579;Name=lod=301 NA 1q32.1 NA NA NA NA rs151305052 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0013 0.0012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369635 1.369635 NA 0.001163 0.000454 NA NA NA 6.6642036 986 10 76979070 76979070 A G exonic VDAC2 NA synonymous SNV VDAC2:NM_001184823:exon6:c.A312G:p.Q104Q,VDAC2:NM_003375:exon6:c.A312G:p.Q104Q,VDAC2:NM_001184783:exon7:c.A357G:p.Q119Q exonic ENSG00000165637 NA synonymous SNV ENSG00000165637:ENST00000447677:exon5:c.A312G:p.Q104Q,ENSG00000165637:ENST00000298468:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000332211:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000344036:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000543351:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000313132:exon7:c.A357G:p.Q119Q,ENSG00000165637:ENST00000535553:exon7:c.A195G:p.Q65Q Score=615;Name=lod=422 NA 10q22.2 NA NA NA NA rs144704103 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0009 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805591 NA NA 0.000698 0 NA NA NA 6.6640686 986 21 45746685 45746685 C T exonic PFKL NA synonymous SNV PFKL:NM_002626:exon22:c.C2283T:p.Y761Y exonic ENSG00000141959 NA synonymous SNV ENSG00000141959:ENST00000349048:exon22:c.C2283T:p.Y761Y,ENSG00000141959:ENST00000403390:exon23:c.C2424T:p.Y808Y Score=604;Name=lod=380 NA 21q22.3 NA NA NA NA rs146583875 0.0009 0.0009 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0009 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107598 NA NA 0.000349 0.000682 NA NA NA 6.6634176 986 10 82269185 82269185 C T exonic TSPAN14 NA synonymous SNV TSPAN14:NM_030927:exon5:c.C408T:p.D136D exonic ENSG00000108219 NA synonymous SNV ENSG00000108219:ENST00000372164:exon4:c.C357T:p.D119D,ENSG00000108219:ENST00000372157:exon5:c.C318T:p.D106D,ENSG00000108219:ENST00000429989:exon5:c.C408T:p.D136D,ENSG00000108219:ENST00000372158:exon7:c.C408T:p.D136D,ENSG00000108219:ENST00000372156:exon8:c.C408T:p.D136D Score=548;Name=lod=224 NA 10q23.1 NA NA NA NA rs116583360 0.0032 0.0032 0.004 0.00459265 0.001 NA 0.0043 0.0136 0.001 0.0013 NA 0.0028 0.01 0.0019 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.414124 1.414124 NA 0.000581 0.011802 ID=COSM197151;OCCURENCE=1(pancreas),1(large_intestine) 0.007 NA 6.6631856 986 18 47511137 47511137 C A exonic MYO5B NA synonymous SNV MYO5B:NM_001080467:exon8:c.G897T:p.V299V exonic ENSG00000167306 NA synonymous SNV ENSG00000167306:ENST00000285039:exon8:c.G897T:p.V299V Score=463;Name=lod=102 NA 18q21.1 NA NA NA NA rs7240377 0.01 0.01 0.006 0.0111821 NA NA 0.0029 0.0408 NA NA NA 0.0028 0.05 0.0034 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355701 1.355701 NA 0.00012 0.036106 NA 0.029 NA 6.6631466 986 3 9055435 9055435 G A exonic SRGAP3 NA synonymous SNV SRGAP3:NM_001033117:exon16:c.C1833T:p.F611F,SRGAP3:NM_014850:exon16:c.C1905T:p.F635F exonic ENSG00000196220 NA synonymous SNV ENSG00000196220:ENST00000360413:exon16:c.C1833T:p.F611F,ENSG00000196220:ENST00000383836:exon16:c.C1905T:p.F635F Score=618;Name=lod=432 NA 3p25.3 NA NA NA NA rs145531861 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.0014 0.0023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003317 NA NA 0.002326 0.000227 NA NA NA 6.6629406 986 22 21383661 21383661 G A exonic SLC7A4 NA synonymous SNV SLC7A4:NM_004173:exon4:c.C1696T:p.L566L exonic ENSG00000099960 NA synonymous SNV ENSG00000099960:ENST00000382932:exon4:c.C1696T:p.L566L,ENSG00000099960:ENST00000403586:exon4:c.C1696T:p.L566L Score=590;Name=lod=332 NA 22q11.21 NA NA NA NA rs45618435 0.0009 0.0009 NA 0.000998403 0.001 NA 0.0058 NA NA 0.0013 NA 0.0028 NA 0.0013 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043046 NA NA 0.001628 0.000908 NA NA NA 6.6627386 986 19 10084471 10084471 C A exonic COL5A3 NA synonymous SNV COL5A3:NM_015719:exon49:c.G3573T:p.L1191L exonic ENSG00000080573 NA synonymous SNV ENSG00000080573:ENST00000264828:exon49:c.G3573T:p.L1191L Score=378;Name=lod=46 NA 19p13.2 NA NA NA NA rs62638751 0.01 0.01 0.009 0.0151757 NA NA 0.0043 0.0552 NA NA NA NA 0.04 0.0041 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666947 NA NA 0 0.041307 NA 0.007 NA 6.6625666 986 2 219887947 219887947 G T exonic CCDC108 NA synonymous SNV CCDC108:NM_194302:exon16:c.C2802A:p.I934I exonic ENSG00000181378 NA synonymous SNV ENSG00000181378:ENST00000453220:exon14:c.C2802A:p.I934I,ENSG00000181378:ENST00000441968:exon15:c.C2802A:p.I934I,ENSG00000181378:ENST00000341552:exon16:c.C2802A:p.I934I Score=385;Name=lod=49 NA 2q35 NA NA NA NA rs146417352 NA NA NA 0.00199681 0.001 0.001 NA NA 0.0082 NA NA NA NA 0.0022 0.0009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881703 NA NA 0.00093 0.000227 NA NA NA 6.6625366 986 10 62038547 62038547 G A exonic ANK3 NA synonymous SNV ANK3:NM_001204404:exon4:c.C348T:p.V116V,ANK3:NM_020987:exon4:c.C399T:p.V133V,ANK3:NM_001204403:exon5:c.C381T:p.V127V exonic ENSG00000151150 NA synonymous SNV ENSG00000151150:ENST00000280772:exon4:c.C399T:p.V133V,ENSG00000151150:ENST00000503366:exon4:c.C348T:p.V116V,ENSG00000151150:ENST00000503925:exon4:c.C321T:p.V107V,ENSG00000151150:ENST00000373827:exon5:c.C381T:p.V127V Score=604;Name=lod=381 NA 10q21.2 NA NA NA NA rs77316697 0.0009 0.0009 0.001 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0006 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37764 1.37764 NA 0.00186 0.000454 NA 0.007 NA 6.6622066 986 7 142495156 142495156 T G intergenic PRSS3P2,EPHB6 dist=12757;dist=57636 NA NA exonic ENSG00000211771 NA nonsynonymous SNV ENSG00000211771:ENST00000390419:exon1:c.T17G:p.L6R NA NA 7q34 NA Name=SUZ12,Pol2 Name=12 NA rs17163733 0.07 0.07 0.041 0.0780751 0.0666 0.0397 0.0576 0.1634 0.0286 0.06 0.03 0.06 0.15 0.0605 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.297936 1.297936 0 0.044292 0.13886 NA 0.029 NA 6.6619414 986 19 10129555 10129555 C T exonic RDH8 NA synonymous SNV RDH8:NM_015725:exon3:c.C471T:p.I157I exonic ENSG00000080511 NA synonymous SNV ENSG00000080511:ENST00000171214:exon3:c.C411T:p.I137I,ENSG00000080511:ENST00000591589:exon3:c.C471T:p.I157I Score=519;Name=lod=171 NA 19p13.2 NA NA NA NA rs2233795 0.01 0.01 0.017 0.0165735 NA NA 0.0086 0.0582 NA NA NA NA 0.07 0.0048 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116649 NA NA 0 0.051294 NA 0.014 NA 6.6618666 986 7 20689734 20689734 G A exonic ABCB5 NA synonymous SNV ABCB5:NM_001163941:exon12:c.G1296A:p.Q432Q exonic ENSG00000004846 NA synonymous SNV ENSG00000004846:ENST00000404938:exon12:c.G1296A:p.Q432Q Score=500;Name=lod=143 NA 7p21.1 NA NA NA NA rs139633934 0.0014 0.0014 0.002 0.00139776 0.002 NA 0.0058 0.0008 NA 0.0026 NA 0.0028 NA 0.0011 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903532 NA NA 0.001815 0 NA 0.007 NA 6.6617516 986 16 57206205 57206205 C T exonic FAM192A NA synonymous SNV FAM192A:NM_024946:exon4:c.G306A:p.K102K exonic ENSG00000172775 NA synonymous SNV ENSG00000172775:ENST00000389447:exon3:c.G306A:p.K102K,ENSG00000172775:ENST00000309137:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000562324:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000562406:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000566077:exon4:c.G75A:p.K25K,ENSG00000172775:ENST00000567439:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000568671:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000569266:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000564108:exon5:c.G306A:p.K102K,ENSG00000172775:ENST00000565458:exon5:c.G306A:p.K102K,ENSG00000172775:ENST00000566584:exon5:c.G306A:p.K102K,ENSG00000172775:ENST00000567044:exon5:c.G306A:p.K102K Score=685;Name=lod=811 NA 16q13 NA NA NA NA rs180702754 0.0009 0.0009 NA 0.000798722 0.001 NA 0.0014 NA 0.002 0.0013 NA 0.0028 NA 0.0017 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018266 NA NA 0.002322 0 NA 0.007 NA 6.6616446 986 3 121260205 121260205 G A exonic POLQ NA synonymous SNV POLQ:NM_199420:exon3:c.C465T:p.Y155Y exonic ENSG00000051341 NA synonymous SNV ENSG00000051341:ENST00000264233:exon3:c.C465T:p.Y155Y Score=652;Name=lod=595 NA 3q13.33 NA NA NA NA rs142289848 0.0018 0.0018 NA 0.00119808 0.003 NA 0.0043 NA NA 0.0026 NA 0.01 NA 0.0007 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81806 NA NA 0.001395 0.000681 NA NA NA 6.6615716 986 12 6421495 6421495 G A exonic PLEKHG6 NA nonsynonymous SNV PLEKHG6:NM_001144856:exon2:c.G103A:p.A35T,PLEKHG6:NM_018173:exon2:c.G103A:p.A35T exonic ENSG00000008323 NA nonsynonymous SNV ENSG00000008323:ENST00000011684:exon2:c.G103A:p.A35T,ENSG00000008323:ENST00000396988:exon2:c.G103A:p.A35T,ENSG00000008323:ENST00000536531:exon2:c.G103A:p.A35T NA NA 12p13.31 NA NA NA NA rs740842 0.49 0.49 0.522 0.459265 0.5805 0.2688 0.3948 0.5991 0.3875 0.59 0.28 0.44 0.62 0.5187 0.62 0.19 T 0.099 B 0.04 B 0.634 N 1.000 P 1.78 L 0.79 T -0.926 T 0.000 T 0.027 2.029 12.74 -4.25 -0.922 -0.155 7.443 2.028752 2.028752 0.01 0.572674 0.600545 NA 0.471 NA 6.6614594 986 11 58602309 58602309 C T exonic GLYATL2 NA nonsynonymous SNV GLYATL2:NM_145016:exon6:c.G478A:p.E160K exonic ENSG00000156689 NA nonsynonymous SNV ENSG00000156689:ENST00000287275:exon6:c.G478A:p.E160K,ENSG00000156689:ENST00000532258:exon7:c.G478A:p.E160K NA NA 11q12.1 NA NA NA NA rs11229651 0.3 0.3 0.266 0.333466 0.2018 0.4841 0.3242 0.2852 0.3855 0.23 0.46 0.27 0.27 0.2825 0.46 1 T 0.0 B 0.0 B 0.532 N 0.000 P -0.755 N 2.54 T -0.930 T 0.000 T 0.02 -1.225 0.061 -1.35 0.057 0.205 5.654 -1.225198 NA 0.86 0.187605 0.258182 ID=COSM147251;OCCURENCE=1(stomach) 0.261 NA 6.6614284 986 2 172926350 172926350 G A exonic METAP1D NA synonymous SNV METAP1D:NM_199227:exon2:c.G165A:p.P55P exonic ENSG00000172878 NA synonymous SNV ENSG00000172878:ENST00000315796:exon2:c.G165A:p.P55P Score=525;Name=lod=182 NA 2q31.1 NA NA NA NA rs149714087 0.0005 0.0005 NA 0.000798722 0.001 NA NA 0.0023 NA 0.0013 NA NA NA 0.0015 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12063 NA NA 0.002791 0.001135 NA NA NA 6.6613756 986 6 85472129 85472129 C T intronic TBX18 NA NA NA intronic ENSG00000112837 NA NA NA NA NA 6q14.3 Score=781;Name=V$PPARG_03 Name=Pol2 Name=10 NA rs1883873 0.18 0.18 0.183 0.190895 0.339 0.0962 0.1916 0.0545 0.32 0.34 0.07 0.21 0.05 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.893884 1.893884 NA NA NA NA 0.268 NA 6.661 986 20 37570725 37570725 C T exonic FAM83D NA synonymous SNV FAM83D:NM_030919:exon2:c.C697T:p.L233L exonic ENSG00000101447 NA synonymous SNV ENSG00000101447:ENST00000217429:exon2:c.C697T:p.L233L Score=546;Name=lod=220 NA 20q11.23 NA Name=CTCF,FOXA1_(SC-101058),MafK_(SC-477) NA NA rs3752293 0.41 0.41 0.423 0.408946 0.3419 0.4365 0.3847 0.5492 0.2771 0.35 0.37 0.38 0.58 0.3424 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392123 NA NA 0.321627 0.506778 NA 0.355 NA 6.6607396 986 9 137803106 137803106 G A exonic FCN1 NA synonymous SNV FCN1:NM_002003:exon8:c.C606T:p.S202S exonic ENSG00000085265 NA synonymous SNV ENSG00000085265:ENST00000371806:exon8:c.C606T:p.S202S NA NA 9q34.3 Score=732;Name=V$SEF1_C NA NA NA rs142943184 0.0009 0.0009 0.001 0.000599042 0.003 NA NA NA NA 0.0026 NA NA NA 0.0018 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.394818 NA NA 0.001628 0 NA NA NA 6.6602386 986 4 95198229 95198229 C G exonic SMARCAD1 NA synonymous SNV SMARCAD1:NM_001254949:exon8:c.C711G:p.L237L,SMARCAD1:NM_001128429:exon16:c.C2001G:p.L667L,SMARCAD1:NM_001128430:exon16:c.C2001G:p.L667L,SMARCAD1:NM_020159:exon16:c.C2001G:p.L667L exonic ENSG00000163104 NA synonymous SNV ENSG00000163104:ENST00000509418:exon8:c.C711G:p.L237L,ENSG00000163104:ENST00000354268:exon16:c.C2001G:p.L667L,ENSG00000163104:ENST00000359052:exon16:c.C2001G:p.L667L,ENSG00000163104:ENST00000457823:exon16:c.C2001G:p.L667L Score=681;Name=lod=779 NA 4q22.3 NA NA NA NA rs61762662 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.002 0.0015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.090326 NA NA 0.001512 0.000454 NA NA NA 6.6601546 986 6 88854082 88854082 G A exonic CNR1 NA synonymous SNV CNR1:NM_001160259:exon2:c.C912T:p.H304H,CNR1:NM_016083:exon2:c.C912T:p.H304H,CNR1:NM_033181:exon2:c.C813T:p.H271H,CNR1:NM_001160226:exon3:c.C912T:p.H304H,CNR1:NM_001160258:exon4:c.C912T:p.H304H exonic ENSG00000118432 NA synonymous SNV ENSG00000118432:ENST00000549890:exon1:c.C912T:p.H304H,ENSG00000118432:ENST00000369499:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000369501:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000428600:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000468898:exon2:c.C813T:p.H271H,ENSG00000118432:ENST00000535130:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000537554:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000549716:exon2:c.C729T:p.H243H Score=435;Name=lod=78 NA 6q15 NA NA NA NA rs144233963 0.0046 0.0046 0.006 0.0071885 0.002 NA 0.0043 0.0234 NA 0.0013 NA 0.0028 0.02 0.0033 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574087 NA NA 0.001395 0.019973 NA NA NA 6.6599716 986 11 102987322 102987322 A G exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001080463:exon5:c.A645G:p.L215L,DYNC2H1:NM_001377:exon5:c.A645G:p.L215L exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000334267:exon5:c.A645G:p.L215L,ENSG00000187240:ENST00000375735:exon5:c.A645G:p.L215L,ENSG00000187240:ENST00000398093:exon5:c.A645G:p.L215L NA NA 11q22.3 Score=878;Name=V$GRE_C NA NA NA rs116666272 0.01 0.01 0.017 0.0175719 0.002 NA 0.0072 0.0613 NA NA NA 0.01 0.06 0.0048 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.829745 NA NA 0.000244 0.048649 NA 0.022 NA 6.6596226 986 16 2027195 2027195 C T exonic TBL3 NA synonymous SNV TBL3:NM_006453:exon15:c.C1581T:p.V527V exonic ENSG00000183751 NA synonymous SNV ENSG00000183751:ENST00000568546:exon15:c.C1581T:p.V527V Score=455;Name=lod=94 NA 16p13.3 NA NA NA NA rs148169075 0.0027 0.0027 0.001 0.00139776 0.003 NA 0.0058 NA NA 0.004 NA 0.01 NA 0.0016 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224139 NA NA 0.002559 0.000455 NA NA NA 6.6595076 986 1 204197978 204197978 T C exonic PLEKHA6 NA synonymous SNV PLEKHA6:NM_014935:exon20:c.A2763G:p.P921P exonic ENSG00000143850 NA synonymous SNV ENSG00000143850:ENST00000272203:exon20:c.A2763G:p.P921P,ENSG00000143850:ENST00000414478:exon20:c.A2823G:p.P941P Score=467;Name=lod=105 NA 1q32.1 NA NA NA NA rs142113537 0.0005 0.0005 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0013 NA NA NA 0.0018 0.0035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063056 NA NA 0.003488 0.000681 NA NA NA 6.6593786 986 6 38690855 38690855 G C exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon2:c.G270C:p.P90P exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000327475:exon1:c.G234C:p.P78P,ENSG00000124721:ENST00000373278:exon2:c.G270C:p.P90P,ENSG00000124721:ENST00000449981:exon2:c.G270C:p.P90P NA NA 6p21.2 NA Name=Pol2-4H8,Pol2(b) NA NA rs180723141 0.0018 0.0018 NA 0.00139776 0.003 NA 0.0043 NA 0.001 0.0026 NA 0.01 NA 0.0026 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669405 NA NA 0.002762 0.000571 NA NA NA 6.6583046 986 11 45986980 45986980 G A exonic PHF21A NA synonymous SNV PHF21A:NM_001101802:exon9:c.C879T:p.T293T,PHF21A:NM_016621:exon9:c.C882T:p.T294T exonic ENSG00000135365 NA synonymous SNV ENSG00000135365:ENST00000257821:exon9:c.C882T:p.T294T,ENSG00000135365:ENST00000323180:exon9:c.C882T:p.T294T,ENSG00000135365:ENST00000418153:exon9:c.C879T:p.T293T Score=723;Name=lod=1155 NA 11p11.2 NA NA NA NA rs35646259 0.0023 0.0023 0.004 0.000798722 0.003 NA 0.0014 NA NA 0.0026 NA 0.01 NA 0.0019 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.361724 1.361724 NA 0.003605 0.001817 NA NA NA 6.6581616 986 2 11778907 11778907 C T exonic GREB1 NA synonymous SNV GREB1:NM_014668:exon32:c.C5658T:p.S1886S exonic ENSG00000196208 NA synonymous SNV ENSG00000196208:ENST00000396123:exon15:c.C2652T:p.S884S,ENSG00000196208:ENST00000234142:exon31:c.C5658T:p.S1886S,ENSG00000196208:ENST00000381486:exon32:c.C5658T:p.S1886S Score=529;Name=lod=188 NA 2p25.1 NA NA NA NA rs138273238 0.0014 0.0014 0.002 0.00139776 0.005 NA NA NA 0.002 0.004 NA NA NA 0.0011 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082463 NA NA 0.002549 0.000526 NA NA NA 6.6580176 986 6 111527803 111527803 T C exonic SLC16A10 NA synonymous SNV SLC16A10:NM_018593:exon4:c.T951C:p.H317H exonic ENSG00000112394 NA synonymous SNV ENSG00000112394:ENST00000368850:exon3:c.T9C:p.H3H,ENSG00000112394:ENST00000368851:exon4:c.T951C:p.H317H NA NA 6q21 Score=799;Name=V$OCT1_04 NA NA NA rs149374548 0.0018 0.0018 NA 0.00119808 0.005 NA NA NA 0.001 0.01 NA NA NA 0.0021 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742347 NA NA 0.001628 0 NA NA NA 6.6579386 986 11 3039866 3039866 G A exonic CARS NA synonymous SNV CARS:NM_001751:exon12:c.C1260T:p.A420A,CARS:NM_139273:exon12:c.C1260T:p.A420A,CARS:NM_001014437:exon13:c.C1509T:p.A503A,CARS:NM_001194997:exon13:c.C1509T:p.A503A exonic ENSG00000110619 NA synonymous SNV ENSG00000110619:ENST00000278224:exon12:c.C1260T:p.A420A,ENSG00000110619:ENST00000397111:exon12:c.C1260T:p.A420A,ENSG00000110619:ENST00000380525:exon13:c.C1509T:p.A503A,ENSG00000110619:ENST00000397114:exon13:c.C1230T:p.A410A,ENSG00000110619:ENST00000401769:exon13:c.C1299T:p.A433A Score=603;Name=lod=377 NA 11p15.4 NA NA NA NA rs80041195 0.0014 0.0014 0.002 0.00119808 0.003 NA 0.0029 NA 0.001 0.0026 NA 0.0028 NA 0.0027 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399787 NA NA 0.003141 0.000681 NA NA NA 6.6578256 986 12 57920935 57920935 C A exonic MBD6 NA synonymous SNV MBD6:NM_052897:exon7:c.C2007A:p.A669A exonic ENSG00000166987 NA synonymous SNV ENSG00000166987:ENST00000547545:exon1:c.C510A:p.A170A,ENSG00000166987:ENST00000355673:exon7:c.C2007A:p.A669A,ENSG00000166987:ENST00000431731:exon7:c.C2007A:p.A669A Score=654;Name=lod=605 NA 12q13.3 NA NA NA NA rs76917839 0.01 0.01 0.005 0.00858626 NA NA 0.0058 0.0287 0.001 NA NA 0.01 0.02 0.0058 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318036 NA NA 0.003145 0.03297 NA 0.014 NA 6.6577216 986 10 37488689 37488689 G C exonic ANKRD30A NA nonsynonymous SNV ANKRD30A:NM_052997:exon30:c.G2583C:p.K861N exonic ENSG00000148513 NA nonsynonymous SNV ENSG00000148513:ENST00000361713:exon30:c.G2583C:p.K861N,ENSG00000148513:ENST00000602533:exon30:c.G2583C:p.K861N,ENSG00000148513:ENST00000374660:exon36:c.G2940C:p.K980N NA NA 10p11.21 NA NA NA NA rs1209750 0.52 0.52 0.523 0.482228 0.5875 0.3244 0.5029 0.671 0.2669 0.6 0.29 0.54 0.66 0.5155 0.66 0.32 T 0.207 B 0.022 B . . 1.000 P 1.1 L 3.42 T -0.946 T 0.000 T 0.034 -1.408 0.022 -1.74 -3.843 -0.926 4.050 -1.408058 NA 0.44 0.572696 0.651404 NA 0.536 NA 6.6576374 986 12 57987816 57987816 G A exonic PIP4K2C NA synonymous SNV PIP4K2C:NM_001146258:exon2:c.G183A:p.E61E,PIP4K2C:NM_001146259:exon2:c.G183A:p.E61E,PIP4K2C:NM_001146260:exon2:c.G183A:p.E61E,PIP4K2C:NM_024779:exon2:c.G183A:p.E61E exonic ENSG00000166908 NA synonymous SNV ENSG00000166908:ENST00000354947:exon2:c.G183A:p.E61E,ENSG00000166908:ENST00000422156:exon2:c.G183A:p.E61E,ENSG00000166908:ENST00000540759:exon2:c.G183A:p.E61E,ENSG00000166908:ENST00000550095:exon2:c.G183A:p.E61E,ENSG00000166908:ENST00000550465:exon2:c.G183A:p.E61E,ENSG00000166908:ENST00000551772:exon2:c.G120A:p.E40E Score=509;Name=lod=156 NA 12q13.3 NA NA NA NA rs61754175 0.01 0.01 0.012 0.0141773 NA NA 0.0144 0.0454 0.001 NA NA 0.01 0.05 0.0058 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610414 NA NA 0.003605 0.037676 NA 0.043 NA 6.6572616 986 10 3150973 3150973 C T exonic PFKP NA synonymous SNV PFKP:NM_002627:exon9:c.C951T:p.F317F,PFKP:NM_001242339:exon11:c.C927T:p.F309F exonic ENSG00000067057 NA synonymous SNV ENSG00000067057:ENST00000415005:exon4:c.C303T:p.F101F,ENSG00000067057:ENST00000381125:exon9:c.C951T:p.F317F,ENSG00000067057:ENST00000381075:exon11:c.C927T:p.F309F Score=484;Name=lod=124 NA 10p15.2 NA Name=Pol2 NA NA rs1132173 0.37 0.37 0.346 0.370407 0.332 0.5099 0.4006 0.2791 0.3681 0.31 0.53 0.34 0.28 0.3501 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162316 NA NA 0.327326 0.256241 NA 0.268 NA 6.6572406 986 5 159992655 159992655 T C exonic ATP10B NA synonymous SNV ATP10B:NM_025153:exon26:c.A4191G:p.V1397V exonic ENSG00000118322 NA synonymous SNV ENSG00000118322:ENST00000327245:exon26:c.A4191G:p.V1397V NA NA 5q34 NA Name=ZNF263 Name=2 NA rs3812005 0.33 0.33 0.298 0.356829 0.33 0.1706 0.4323 0.4781 0.3589 0.32 0.18 0.42 0.46 0.348 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316613 NA NA 0.331701 0.423469 NA 0.399 NA 6.6569656 986 11 837582 837582 G A exonic CD151 NA synonymous SNV CD151:NM_001039490:exon6:c.G579A:p.G193G,CD151:NM_139030:exon6:c.G579A:p.G193G,CD151:NM_004357:exon7:c.G579A:p.G193G,CD151:NM_139029:exon7:c.G579A:p.G193G exonic ENSG00000177697 NA synonymous SNV ENSG00000177697:ENST00000528011:exon5:c.G579A:p.G193G,ENSG00000177697:ENST00000529810:exon5:c.G504A:p.G168G,ENSG00000177697:ENST00000397421:exon6:c.G579A:p.G193G,ENSG00000177697:ENST00000322008:exon7:c.G579A:p.G193G,ENSG00000177697:ENST00000397420:exon7:c.G579A:p.G193G,ENSG00000177697:ENST00000530726:exon7:c.G579A:p.G193G NA NA 11p15.5 Score=794;Name=V$PAX5_02 Name=Pol2(phosphoS2),Pol2 Name=14 NA rs1130663 0.71 0.71 0.662 0.642173 0.663 0.8552 0.7925 0.5318 0.4438 0.67 0.89 0.78 0.52 0.6697 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.417221 NA NA 0.677408 0.550909 NA 0.594 NA 6.6565586 986 9 94519645 94519645 G A exonic ROR2 NA synonymous SNV ROR2:NM_004560:exon3:c.C372T:p.D124D exonic ENSG00000169071 NA synonymous SNV ENSG00000169071:ENST00000375708:exon3:c.C372T:p.D124D Score=444;Name=lod=85 NA 9q22.31 NA NA NA NA rs145568368 0.0014 0.0014 NA 0.000798722 0.003 NA NA 0.0008 NA 0.004 NA NA NA 0.0027 0.0047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837016 NA NA 0.004651 0.001362 NA NA NA 6.6563156 986 17 4863574 4863574 G A exonic SPAG7 NA synonymous SNV SPAG7:NM_004890:exon4:c.C282T:p.S94S exonic ENSG00000091640 NA synonymous SNV ENSG00000091640:ENST00000206020:exon4:c.C282T:p.S94S,ENSG00000091640:ENST00000573366:exon4:c.C129T:p.S43S,ENSG00000091640:ENST00000575142:exon4:c.C249T:p.S83S Score=613;Name=lod=415 NA 17p13.2 NA NA NA NA rs73343383 0.02 0.02 0.025 0.0297524 0.001 NA 0.0058 0.1089 NA 0.0013 NA 0.0028 0.09 0.0089 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662254 NA NA 0.000476 0.085342 NA 0.058 NA 6.6562906 986 19 9721701 9721701 A G exonic ZNF561 NA synonymous SNV ZNF561:NM_152289:exon6:c.T636C:p.L212L exonic ENSG00000171469 NA synonymous SNV ENSG00000171469:ENST00000354661:exon5:c.T228C:p.L76L,ENSG00000171469:ENST00000424629:exon5:c.T429C:p.L143L,ENSG00000171469:ENST00000302851:exon6:c.T636C:p.L212L,ENSG00000171469:ENST00000444611:exon6:c.T654C:p.L218L NA NA 19p13.2 NA Name=KAP1 NA NA rs8109456 0.02 0.02 0.022 0.0291534 0.001 NA 0.0086 0.1051 NA 0.0013 NA 0.01 0.09 0.0086 0.093 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362676 NA NA 0.000814 0.093055 NA 0.029 NA 6.6562526 986 8 25720267 25720267 C T exonic EBF2 NA synonymous SNV EBF2:NM_022659:exon11:c.G1056A:p.K352K exonic ENSG00000221818 NA synonymous SNV ENSG00000221818:ENST00000535548:exon3:c.G249A:p.K83K,ENSG00000221818:ENST00000408929:exon10:c.G612A:p.K204K,ENSG00000221818:ENST00000520164:exon11:c.G1056A:p.K352K Score=646;Name=lod=564 NA 8p21.2 NA NA NA NA rs28454030 0.02 0.02 0.018 0.0277556 0.001 NA 0.0086 0.0998 NA NA NA 0.01 0.09 0.0082 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666325 NA NA 0.001704 0.083066 NA 0.014 NA 6.6557626 986 19 39804837 39804837 C T exonic LRFN1 NA synonymous SNV LRFN1:NM_020862:exon1:c.G1140A:p.T380T exonic ENSG00000128011 NA synonymous SNV ENSG00000128011:ENST00000248668:exon1:c.G1140A:p.T380T NA NA 19q13.2 NA NA NA Score=77;Name=1147136_0_-_77 rs61730567 0.02 0.02 0.019 0.0161741 0.004 NA 0.0058 0.0552 NA 0.0026 NA 0.01 0.08 0.0062 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529717 NA NA 0.000938 0.048943 NA 0.029 NA 6.6555286 987 9 97369151 97369151 G A exonic FBP1 NA synonymous SNV FBP1:NM_000507:exon5:c.C651T:p.A217A,FBP1:NM_001127628:exon6:c.C651T:p.A217A exonic ENSG00000165140 NA synonymous SNV ENSG00000165140:ENST00000375326:exon5:c.C651T:p.A217A,ENSG00000165140:ENST00000414122:exon5:c.C399T:p.A133A,ENSG00000165140:ENST00000415431:exon6:c.C651T:p.A217A Score=560;Name=lod=252 NA 9q22.32 Score=799;Name=V$ER_Q6 NA NA NA rs1042144 0.36 0.36 0.333 0.352436 0.3499 0.5496 0.2046 0.2716 0.3661 0.35 0.53 0.22 0.27 0.3339 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.4215 1.4215 NA 0.32814 0.278938 NA NA NA 6.6547266 987 5 118969692 118969692 A G exonic FAM170A NA synonymous SNV FAM170A:NM_001163991:exon2:c.A108G:p.Q36Q,FAM170A:NM_182761:exon3:c.A249G:p.Q83Q exonic ENSG00000164334 NA synonymous SNV ENSG00000164334:ENST00000379555:exon2:c.A108G:p.Q36Q,ENSG00000164334:ENST00000504819:exon2:c.A108G:p.Q36Q,ENSG00000164334:ENST00000335286:exon3:c.A249G:p.Q83Q,ENSG00000164334:ENST00000509264:exon3:c.A249G:p.Q83Q,ENSG00000164334:ENST00000515256:exon3:c.A249G:p.Q83Q NA NA 5q23.1 Score=833;Name=V$TST1_01 NA NA NA rs148156357 0.0027 0.0027 0.002 0.00199681 0.005 NA 0.0029 0.0008 0.002 0.01 NA 0.0028 NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205398 NA NA 0.00373 0.001282 NA NA NA 6.6543366 987 1 86920904 86920904 A G exonic CLCA2 NA synonymous SNV CLCA2:NM_006536:exon14:c.A2526G:p.Q842Q exonic ENSG00000137975 NA synonymous SNV ENSG00000137975:ENST00000370565:exon14:c.A2526G:p.Q842Q NA NA 1p22.3 NA Name=CEBPB,TAL1_(SC-12984) Name=2 NA rs2390057 0.34 0.34 0.324 0.328874 0.335 0.4405 0.2435 0.2057 0.4346 0.34 0.43 0.28 0.25 0.3432 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.424113 NA NA 0.334419 0.246255 ID=COSM146552;OCCURENCE=1(stomach) 0.275 NA 6.6540476 987 1 16351275 16351275 A G exonic CLCNKA NA nonsynonymous SNV CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G exonic ENSG00000186510 NA nonsynonymous SNV ENSG00000186510:ENST00000331433:exon4:c.A247G:p.R83G,ENSG00000186510:ENST00000420078:exon4:c.A247G:p.R83G,ENSG00000186510:ENST00000375692:exon5:c.A247G:p.R83G NA NA 1p36.13 NA NA NA NA rs10927887 0.62 0.62 0.633 0.642971 0.5636 0.7688 0.4467 0.7201 0.6299 0.55 0.75 0.48 0.71 0.5636 0.75 0.3 T 0.0 B 0.0 B 0.728 N 0.990 P 1.415 L -3.05 D -0.919 T 0.000 T 0.056 0.068 4.371 0.872 -0.153 0.593 7.321 0.068461 NA 0.3 0.552093 0.696096 NA 0.659 NA 6.6540404 987 11 2185556 2185556 G A exonic TH NA synonymous SNV TH:NM_000360:exon13:c.C1401T:p.D467D,TH:NM_199292:exon14:c.C1494T:p.D498D,TH:NM_199293:exon14:c.C1482T:p.D494D exonic ENSG00000180176 NA synonymous SNV ENSG00000180176:ENST00000333684:exon11:c.C1131T:p.D377D,ENSG00000180176:ENST00000352909:exon13:c.C1401T:p.D467D,ENSG00000180176:ENST00000381175:exon14:c.C1482T:p.D494D,ENSG00000180176:ENST00000381178:exon14:c.C1494T:p.D498D Score=458;Name=lod=97 NA 11p15.5 NA NA NA NA rs3842724 0.02 0.02 0.017 0.0283546 0.003 NA 0.013 0.0983 NA 0.0013 NA 0.01 0.09 0.0083 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504015 NA NA 0.001512 0.074739 NA 0.022 NA 6.6538546 987 6 7231521 7231521 C T exonic RREB1 NA synonymous SNV RREB1:NM_001003698:exon10:c.C3189T:p.P1063P,RREB1:NM_001003699:exon10:c.C3189T:p.P1063P,RREB1:NM_001003700:exon10:c.C3189T:p.P1063P,RREB1:NM_001168344:exon10:c.C3189T:p.P1063P exonic ENSG00000124782 NA synonymous SNV ENSG00000124782:ENST00000334984:exon10:c.C3189T:p.P1063P,ENSG00000124782:ENST00000349384:exon10:c.C3189T:p.P1063P,ENSG00000124782:ENST00000379933:exon10:c.C3189T:p.P1063P,ENSG00000124782:ENST00000379938:exon10:c.C3189T:p.P1063P Score=455;Name=lod=94 NA 6p24.3 NA NA NA NA rs148116530 0.0009 0.0009 0.003 0.00299521 0.003 NA NA NA 0.0123 0.0026 NA NA NA 0.0049 0.0051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237042 1.237042 NA 0.00512 0.000908 NA NA NA 6.6536466 987 9 100405627 100405627 T C exonic NCBP1 NA synonymous SNV NCBP1:NM_002486:exon4:c.T366C:p.N122N exonic ENSG00000136937 NA synonymous SNV ENSG00000136937:ENST00000375147:exon4:c.T366C:p.N122N Score=696;Name=lod=899 NA 9q22.33 NA NA NA NA rs34675777 0.03 0.03 0.04 0.0445288 NA NA 0.0202 0.1581 NA NA NA 0.01 0.14 0.0126 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895628 NA NA 0.000465 0.136632 NA 0.036 NA 6.6536016 987 17 67111065 67111065 G A exonic ABCA6 NA synonymous SNV ABCA6:NM_080284:exon13:c.C1620T:p.I540I exonic ENSG00000154262 NA synonymous SNV ENSG00000154262:ENST00000284425:exon13:c.C1620T:p.I540I Score=454;Name=lod=93 NA 17q24.3 NA NA NA NA rs138479597 0.0018 0.0018 NA 0.00139776 0.003 NA 0.0043 0.0008 NA 0.0026 NA 0.01 NA 0.0033 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478053 NA NA 0.00686 0.000908 NA NA NA 6.6535066 987 9 134349958 134349958 A C exonic PRRC2B NA synonymous SNV PRRC2B:NM_013318:exon15:c.A2442C:p.A814A exonic ENSG00000130723 NA synonymous SNV ENSG00000130723:ENST00000456307:exon2:c.A249C:p.A83A,ENSG00000130723:ENST00000357304:exon15:c.A2442C:p.A814A Score=659;Name=lod=637 NA 9q34.13 NA NA NA NA rs200268888 0.0009 0.0009 NA 0.00159744 0.004 NA 0.0058 NA NA 0.0013 NA 0.0028 NA 0.0035 0.0057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644339 NA NA 0.005711 0.001595 NA NA NA 6.6534556 987 14 105850736 105850736 C T exonic PACS2 NA synonymous SNV PACS2:NM_001100913:exon17:c.C1827T:p.Y609Y,PACS2:NM_001243127:exon17:c.C1590T:p.Y530Y,PACS2:NM_015197:exon17:c.C1815T:p.Y605Y exonic ENSG00000179364 NA synonymous SNV ENSG00000179364:ENST00000551743:exon2:c.C357T:p.Y119Y,ENSG00000179364:ENST00000547217:exon16:c.C1725T:p.Y575Y,ENSG00000179364:ENST00000325438:exon17:c.C1815T:p.Y605Y,ENSG00000179364:ENST00000430725:exon17:c.C1590T:p.Y530Y,ENSG00000179364:ENST00000447393:exon17:c.C1827T:p.Y609Y,ENSG00000179364:ENST00000458164:exon17:c.C1827T:p.Y609Y Score=539;Name=lod=207 NA 14q32.33 NA NA NA NA rs143071112 0.0014 0.0014 0.001 0.00179712 0.005 NA 0.0043 0.0008 NA 0.0026 NA 0.0028 NA 0.0042 0.0049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07223 NA NA 0.004885 0.001135 NA NA NA 6.6525816 987 4 156634600 156634600 T C exonic GUCY1A3 NA synonymous SNV GUCY1A3:NM_001130684:exon6:c.T1437C:p.N479N,GUCY1A3:NM_001130682:exon7:c.T1437C:p.N479N,GUCY1A3:NM_001130683:exon7:c.T1437C:p.N479N,GUCY1A3:NM_001130685:exon7:c.T732C:p.N244N,GUCY1A3:NM_001130687:exon7:c.T1437C:p.N479N,GUCY1A3:NM_001256449:exon7:c.T1437C:p.N479N,GUCY1A3:NM_000856:exon8:c.T1437C:p.N479N exonic ENSG00000164116 NA synonymous SNV ENSG00000164116:ENST00000513574:exon6:c.T1437C:p.N479N,ENSG00000164116:ENST00000296518:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000393832:exon7:c.T663C:p.N221N,ENSG00000164116:ENST00000455639:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000506455:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000511507:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000511108:exon8:c.T1437C:p.N479N NA NA 4q32.1 Score=775;Name=V$ER_Q6 NA NA NA rs143472664 0.0041 0.0041 0.001 0.00239617 0.006 NA 0.0072 NA 0.001 0.01 NA 0.01 0.002 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52329 NA NA 0.005 0.000681 NA NA NA 6.6520666 987 20 62319919 62319919 G A exonic RTEL1 NA synonymous SNV RTEL1:NM_016434:exon21:c.G1761A:p.P587P,RTEL1:NM_032957:exon21:c.G1833A:p.P611P exonic ENSG00000026036,ENSG00000258366 NA synonymous SNV ENSG00000258366:ENST00000425905:exon2:c.G87A:p.P29P,ENSG00000026036:ENST00000492259:exon19:c.G1845A:p.P615P,ENSG00000026036:ENST00000482936:exon20:c.G1761A:p.P587P,ENSG00000258366:ENST00000318100:exon21:c.G1761A:p.P587P,ENSG00000258366:ENST00000360203:exon21:c.G1761A:p.P587P,ENSG00000258366:ENST00000370018:exon21:c.G1761A:p.P587P,ENSG00000258366:ENST00000508582:exon21:c.G1833A:p.P611P NA NA 20q13.33 NA Name=Pol2,Pol2(phosphoS2) NA NA rs116900568 0.0014 0.0014 NA 0.00179712 0.006 NA 0.0043 NA NA 0.004 NA NA NA 0.0041 0.0049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542143 NA NA 0.0049 0.000456 ID=COSM35349;OCCURENCE=1(central_nervous_system) NA NA 6.6516666 987 19 38189694 38189694 G A exonic ZNF607 NA synonymous SNV ZNF607:NM_001172677:exon5:c.C1335T:p.Y445Y,ZNF607:NM_032689:exon5:c.C1338T:p.Y446Y exonic ENSG00000198182 NA synonymous SNV ENSG00000198182:ENST00000355202:exon5:c.C1338T:p.Y446Y,ENSG00000198182:ENST00000395835:exon5:c.C1335T:p.Y445Y Score=414;Name=lod=64 NA 19q13.12 NA NA NA NA rs117357379 0.0037 0.0037 0 0.00279553 0.006 NA 0.0101 0.0008 NA 0.01 NA 0.01 NA 0.0034 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15107 NA NA 0.005698 0.000908 NA 0.007 NA 6.6515686 987 15 86262383 86262383 G A exonic AKAP13 NA synonymous SNV AKAP13:NM_001270546:exon15:c.G1941A:p.A647A,AKAP13:NM_006738:exon23:c.G6090A:p.A2030A,AKAP13:NM_007200:exon23:c.G6078A:p.A2026A exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000394510:exon10:c.G813A:p.A271A,ENSG00000170776:ENST00000361243:exon23:c.G6090A:p.A2030A,ENSG00000170776:ENST00000394518:exon23:c.G6078A:p.A2026A NA NA 15q25.3 NA NA Name=2 NA rs79991499 0.0046 0.0046 0.009 0.00239617 0.007 NA 0.0058 0.0008 NA 0.01 NA 0.01 0.002 0.003 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582599 NA NA 0.00535 0.001362 NA 0.014 NA 6.6513166 987 6 10751379 10751379 C T exonic TMEM14B NA synonymous SNV TMEM14B:NM_030969:exon4:c.C114T:p.S38S exonic ENSG00000137210 NA synonymous SNV ENSG00000137210:ENST00000478732:exon2:c.C48T:p.S16S,ENSG00000137210:ENST00000379542:exon4:c.C114T:p.S38S,ENSG00000137210:ENST00000467317:exon4:c.C114T:p.S38S,ENSG00000137210:ENST00000475942:exon4:c.C114T:p.S38S Score=440;Name=lod=82 NA 6p24.2 NA NA NA NA rs1046427 0.02 0.02 0.021 0.0233626 0.004 NA 0.0115 0.0779 0.002 NA NA 0.01 0.08 0.0082 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653859 NA NA 0.003256 0.059491 NA 0.036 NA 6.6512106 987 19 3752874 3752874 A G exonic APBA3 NA nonsynonymous SNV APBA3:NM_004886:exon7:c.T1126C:p.C376R exonic ENSG00000011132 NA nonsynonymous SNV ENSG00000011132:ENST00000316757:exon7:c.T1126C:p.C376R Score=538;Name=lod=205 NA 19p13.3 NA NA NA NA rs8102086 0.56 0.56 0.519 0.539337 0.5676 0.63 0.6916 0.323 0.6012 0.55 0.66 0.68 0.37 0.5633 0.68 0.09 T 0.0 B 0.0 B 0.208 N 0.984 P -0.345 N 3.36 T -1.055 T 0.000 T 0.013 1.326 10.35 1.84 -0.086 0.931 2.674 1.325729 1.325729 0.12 0.551652 0.409628 NA 0.587 NA 6.6507814 987 7 33055315 33055315 C T exonic NT5C3A NA synonymous SNV NT5C3A:NM_001002010:exon8:c.G876A:p.E292E,NT5C3A:NM_001002009:exon9:c.G759A:p.E253E,NT5C3A:NM_016489:exon9:c.G759A:p.E253E,NT5C3A:NM_001166118:exon10:c.G723A:p.E241E exonic ENSG00000122643 NA synonymous SNV ENSG00000122643:ENST00000242210:exon8:c.G876A:p.E292E,ENSG00000122643:ENST00000405342:exon8:c.G759A:p.E253E,ENSG00000122643:ENST00000396152:exon9:c.G759A:p.E253E,ENSG00000122643:ENST00000381626:exon10:c.G723A:p.E241E,ENSG00000122643:ENST00000409467:exon10:c.G723A:p.E241E Score=622;Name=lod=451 NA 7p14.3 NA NA NA NA rs72555746 0.0023 0.0023 0.002 0.00938498 0.004 0.002 0.0029 NA 0.0399 0.004 NA 0.01 NA 0.0076 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69355 NA NA 0.004302 0.000908 NA 0.014 NA 6.6507646 987 7 32590951 32590951 G C exonic AVL9 NA synonymous SNV AVL9:NM_015060:exon5:c.G378C:p.L126L exonic ENSG00000105778 NA synonymous SNV ENSG00000105778:ENST00000446718:exon4:c.G171C:p.L57L,ENSG00000105778:ENST00000318709:exon5:c.G378C:p.L126L,ENSG00000105778:ENST00000404479:exon5:c.G378C:p.L126L,ENSG00000105778:ENST00000409301:exon5:c.G378C:p.L126L Score=662;Name=lod=655 NA 7p14.3 NA NA NA NA rs146342571 0.0018 0.0018 NA 0.00119808 0.003 NA 0.0029 NA 0.001 0.0013 NA 0.01 0.002 0.0048 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825969 NA NA 0.008265 0.001589 NA 0.007 NA 6.6506016 987 1 110256162 110256162 C G exonic GSTM5 NA synonymous SNV GSTM5:NM_000851:exon4:c.C234G:p.R78R exonic ENSG00000134201 NA synonymous SNV ENSG00000134201:ENST00000369813:exon2:c.C111G:p.R37R,ENSG00000134201:ENST00000256593:exon4:c.C234G:p.R78R,ENSG00000134201:ENST00000369812:exon4:c.C291G:p.R97R Score=551;Name=lod=231 NA 1p13.3 NA NA NA NA rs144839885 0.0027 0.0027 NA 0.0071885 0.0089 NA 0.0058 NA 0.0235 0.004 NA 0.01 0.002 0.0079 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01377 NA NA NA NA NA NA NA 6.6498666 987 9 3257122 3257122 C T exonic RFX3 NA synonymous SNV RFX3:NM_002919:exon15:c.G1683A:p.Q561Q,RFX3:NM_134428:exon15:c.G1683A:p.Q561Q exonic ENSG00000080298 NA synonymous SNV ENSG00000080298:ENST00000449234:exon1:c.G78A:p.Q26Q,ENSG00000080298:ENST00000458034:exon4:c.G402A:p.Q134Q,ENSG00000080298:ENST00000358730:exon13:c.G1683A:p.Q561Q,ENSG00000080298:ENST00000302303:exon15:c.G1683A:p.Q561Q,ENSG00000080298:ENST00000382004:exon15:c.G1683A:p.Q561Q Score=758;Name=lod=1604 NA 9p24.2 NA NA NA NA rs35483263 0.0018 0.0018 0.001 0.00119808 0.005 NA NA NA 0.001 0.01 NA NA NA 0.0044 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124845 NA NA 0.007442 0.000908 NA NA NA 6.6498246 987 16 30376486 30376486 T C exonic TBC1D10B NA synonymous SNV TBC1D10B:NM_015527:exon3:c.A1104G:p.K368K exonic ENSG00000169221 NA synonymous SNV ENSG00000169221:ENST00000490703:exon1:c.A48G:p.K16K,ENSG00000169221:ENST00000409939:exon3:c.A1104G:p.K368K Score=647;Name=lod=566 NA 16p11.2 Score=682;Name=V$P53_01 NA NA NA rs8049108 0.32 0.32 0.316 0.345647 0.341 0.0804 0.2723 0.6218 0.3027 0.32 0.08 0.29 0.62 0.3365 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.311873 1.311873 NA 0.339651 0.574875 NA 0.457 NA 6.6495156 987 11 47701528 47701528 C A exonic AGBL2 NA nonsynonymous SNV AGBL2:NM_024783:exon13:c.G2013T:p.M671I exonic ENSG00000165923 NA nonsynonymous SNV ENSG00000165923:ENST00000298861:exon12:c.G2013T:p.M671I,ENSG00000165923:ENST00000357610:exon12:c.G2013T:p.M671I,ENSG00000165923:ENST00000528244:exon12:c.G1899T:p.M633I,ENSG00000165923:ENST00000525123:exon13:c.G2013T:p.M671I Score=534;Name=lod=198 NA 11p11.2 NA NA NA NA rs12286721 0.61 0.61 0.587 0.580671 0.5666 0.5694 0.6657 0.6377 0.4693 0.57 0.65 0.64 0.6 0.5717 0.65 0.14 T 0.0 B 0.0 B 0.004 N 0.999 P 0 N 3.01 T -1.026 T 0.000 T 0.067 1.418 10.68 0.549 0.212 0.469 6.045 1.41756 1.41756 0.1 0.546068 0.615402 NA 0.645 NA 6.6489654 987 11 65304124 65304124 C T exonic SCYL1 NA synonymous SNV SCYL1:NM_001048218:exon13:c.C1719T:p.A573A,SCYL1:NM_020680:exon13:c.C1719T:p.A573A exonic ENSG00000142186 NA synonymous SNV ENSG00000142186:ENST00000528545:exon2:c.C138T:p.A46A,ENSG00000142186:ENST00000527009:exon12:c.C1290T:p.A430A,ENSG00000142186:ENST00000270176:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000279270:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000420247:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000524944:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000525364:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000527630:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000533862:exon13:c.C1719T:p.A573A Score=514;Name=lod=163 NA 11q13.1 NA NA NA NA rs56296579 0.0037 0.0037 0.005 0.00239617 0.008 NA 0.0029 NA 0.002 0.01 NA 0.0028 NA 0.0041 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713746 1.713746 NA 0.00567 0.001405 NA NA NA 6.6488966 987 7 138740037 138740037 G C exonic ZC3HAV1 NA nonsynonymous SNV ZC3HAV1:NM_020119:exon10:c.C2101G:p.Q701E exonic ENSG00000105939 NA nonsynonymous SNV ENSG00000105939:ENST00000242351:exon10:c.C2101G:p.Q701E,ENSG00000105939:ENST00000464606:exon10:c.C2467G:p.Q823E NA NA 7q34 NA NA NA NA rs2297236 0.58 0.58 0.556 0.565096 0.5586 0.6776 0.5879 0.4629 0.5777 0.56 0.69 0.56 0.48 0.5597 0.69 0.63 T 0.056 B 0.024 B 0.398 N 1.000 P 2.14 M 3.3 T -1.009 T 0.000 T 0.029 1.153 9.696 1.78 0.508 0.699 6.474 1.153136 NA 1 0.566744 0.459374 ID=COSM1131699;OCCURENCE=1(prostate) 0.449 NA 6.6482894 987 1 29040799 29040799 A G exonic GMEB1 NA synonymous SNV GMEB1:NM_006582:exon10:c.A1236G:p.P412P,GMEB1:NM_024482:exon10:c.A1206G:p.P402P exonic ENSG00000162419 NA synonymous SNV ENSG00000162419:ENST00000294409:exon10:c.A1236G:p.P412P,ENSG00000162419:ENST00000361872:exon10:c.A1206G:p.P402P,ENSG00000162419:ENST00000373816:exon10:c.A1206G:p.P402P NA NA 1p35.3 Score=960;Name=V$AP2REP_01 NA NA NA rs16837667 0.0005 0.0005 NA 0.00219649 0.004 NA 0.0014 NA 0.0061 0.0013 NA NA NA 0.0063 0.0083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437808 NA NA 0.008256 0.001135 NA NA NA 6.6481106 987 17 41245237 41245237 A G exonic BRCA1 NA synonymous SNV BRCA1:NM_007297:exon9:c.T2170C:p.L724L,BRCA1:NM_007294:exon10:c.T2311C:p.L771L,BRCA1:NM_007300:exon10:c.T2311C:p.L771L exonic ENSG00000012048 NA synonymous SNV ENSG00000012048:ENST00000309486:exon9:c.T1423C:p.L475L,ENSG00000012048:ENST00000493795:exon9:c.T2170C:p.L724L,ENSG00000012048:ENST00000346315:exon10:c.T2311C:p.L771L,ENSG00000012048:ENST00000354071:exon10:c.T2311C:p.L771L,ENSG00000012048:ENST00000357654:exon10:c.T2311C:p.L771L,ENSG00000012048:ENST00000471181:exon10:c.T2311C:p.L771L NA NA 17q21.31 NA NA Name=52 NA rs16940 0.3 0.3 0.277 0.335264 0.3529 0.371 0.3674 0.1573 0.498 0.35 0.33 0.38 0.13 0.342 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08811 NA NA 0.323721 0.187699 NA 0.254 CLINSIG=non-pathogenic|untested|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|not|single|single;CLNACC=RCV000111822.2|RCV000114985.1|RCV000123904.1|RCV000128982.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|.|C0027672 6.6480456 987 11 67353970 67353970 T C exonic GSTP1 NA synonymous SNV GSTP1:NM_000852:exon7:c.T555C:p.S185S exonic ENSG00000084207 NA synonymous SNV ENSG00000084207:ENST00000398603:exon6:c.T447C:p.S149S,ENSG00000084207:ENST00000398606:exon7:c.T555C:p.S185S NA NA 11q13.2 Score=787;Name=V$AHRARNT_02 Name=CTCF_(SC-5916) NA NA rs4891 0.34 0.34 0.332 0.35603 0.337 0.1736 0.4885 0.5182 0.2505 0.33 0.16 0.43 0.48 0.3404 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.191818 NA NA 0.341335 0.454009 NA 0.348 NA 6.6479316 987 1 154744807 154744807 C T exonic KCNN3 NA synonymous SNV KCNN3:NM_001204087:exon3:c.G1092A:p.L364L,KCNN3:NM_002249:exon3:c.G1092A:p.L364L,KCNN3:NM_170782:exon3:c.G177A:p.L59L exonic ENSG00000143603 NA synonymous SNV ENSG00000143603:ENST00000271915:exon3:c.G1092A:p.L364L,ENSG00000143603:ENST00000358505:exon3:c.G153A:p.L51L,ENSG00000143603:ENST00000361147:exon3:c.G177A:p.L59L Score=625;Name=lod=462 NA 1q21.3 NA NA NA NA rs1051614 NA NA NA 0.00439297 0.0089 NA 0.0101 0.0015 0.0041 NA NA NA NA 0.0099 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.605586 2.605586 NA NA NA NA 0.007 NA 6.6478666 987 17 73568031 73568031 C T exonic LLGL2 NA synonymous SNV LLGL2:NM_001031803:exon19:c.C2346T:p.L782L,LLGL2:NM_004524:exon19:c.C2346T:p.L782L exonic ENSG00000073350 NA synonymous SNV ENSG00000073350:ENST00000167462:exon19:c.C2346T:p.L782L,ENSG00000073350:ENST00000392550:exon19:c.C2346T:p.L782L,ENSG00000073350:ENST00000577200:exon19:c.C2346T:p.L782L Score=480;Name=lod=119 NA 17q25.1 NA NA NA NA rs116275079 0.02 0.02 0.021 0.0427316 0.001 0.003 0.0173 0.1074 0.0573 NA NA 0.02 0.08 0.0156 0.086 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.590818 1.590818 NA 0.002326 0.086473 NA 0.007 NA 6.6477406 987 2 17962924 17962924 C T exonic GEN1 NA synonymous SNV GEN1:NM_001130009:exon14:c.C2445T:p.Y815Y,GEN1:NM_182625:exon14:c.C2445T:p.Y815Y exonic ENSG00000178295 NA synonymous SNV ENSG00000178295:ENST00000317402:exon14:c.C2445T:p.Y815Y,ENSG00000178295:ENST00000381254:exon14:c.C2445T:p.Y815Y NA NA 2p24.2 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs148781334 0.01 0.01 0.003 0.00339457 0.0089 NA 0.0072 NA 0.0031 0.01 NA 0.01 NA 0.0044 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130331 NA NA 0.006395 0.001816 NA NA NA 6.6469716 987 15 42632915 42632915 A G exonic GANC NA synonymous SNV GANC:NM_198141:exon18:c.A2115G:p.E705E exonic ENSG00000214013 NA synonymous SNV ENSG00000214013:ENST00000318010:exon18:c.A2115G:p.E705E Score=369;Name=lod=42 NA 15q15.1 NA NA NA NA rs117264272 0.0037 0.0037 0.007 0.00319489 0.005 NA 0.0086 NA 0.0051 0.01 NA 0.01 NA 0.0063 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214277 NA NA 0.008607 0.001589 NA 0.014 NA 6.6467596 987 2 233347590 233347590 C T exonic ECEL1 NA synonymous SNV ECEL1:NM_004826:exon10:c.G1656A:p.K552K exonic ENSG00000171551 NA synonymous SNV ENSG00000171551:ENST00000409941:exon9:c.G1656A:p.K552K,ENSG00000171551:ENST00000304546:exon10:c.G1656A:p.K552K Score=569;Name=lod=274 NA 2q37.1 NA NA NA NA rs1190429 0.0032 0.0032 0.001 0.00239617 0.0089 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0032 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059892 NA NA 0.008023 0.001362 NA NA NA 6.6465436 987 5 169021610 169021610 C T exonic SPDL1 NA synonymous SNV SPDL1:NM_017785:exon7:c.C816T:p.L272L exonic ENSG00000040275 NA synonymous SNV ENSG00000040275:ENST00000265295:exon7:c.C816T:p.L272L Score=608;Name=lod=396 NA 5q35.1 NA NA NA NA rs4493692 0.64 0.64 0.659 0.638778 0.673 0.7331 0.5879 0.5257 0.6953 0.69 0.72 0.59 0.53 0.6572 0.72 . . . . . . . . 0.000 P . . . . -0.983 T 0.000 T . -0.16 3.217 -2.19 -0.607 -0.103 4.624 -0.160356 NA NA 0.69 0.551521 NA 0.565 NA 6.6464666 987 5 422906 422906 C T exonic AHRR NA synonymous SNV AHRR:NM_001242412:exon6:c.C516T:p.C172C,AHRR:NM_020731:exon6:c.C516T:p.C172C exonic ENSG00000063438 NA synonymous SNV ENSG00000063438:ENST00000506456:exon2:c.C84T:p.C28C,ENSG00000063438:ENST00000512529:exon4:c.C54T:p.C18C,ENSG00000063438:ENST00000316418:exon6:c.C516T:p.C172C,ENSG00000063438:ENST00000505113:exon6:c.C516T:p.C172C Score=617;Name=lod=430 NA 5p15.33 NA NA NA NA rs61755969 0.01 0.01 0.014 0.01877 0.005 NA 0.0029 0.0537 0.0164 0.01 NA 0.0028 0.04 0.0084 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527848 1.527848 NA 0.007005 0.039919 NA 0.036 NA 6.6462616 987 10 97447373 97447373 A T exonic TCTN3 NA synonymous SNV TCTN3:NM_015631:exon4:c.T603A:p.T201T exonic ENSG00000119977 NA synonymous SNV ENSG00000119977:ENST00000265993:exon4:c.T603A:p.T201T,ENSG00000119977:ENST00000371209:exon4:c.T603A:p.T201T,ENSG00000119977:ENST00000371217:exon4:c.T657A:p.T219T NA NA 10q24.1 NA NA Name=3 NA rs10786229 0.44 0.44 0.44 0.42472 0.3469 0.7133 0.255 0.4236 0.3292 0.35 0.7 0.26 0.38 0.3544 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589182 NA NA 0.319302 0.415116 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118618.2;CLNDSDB=.;CLNDSDBID=. 6.6460646 987 9 116770776 116770776 C T exonic ZNF618 NA synonymous SNV ZNF618:NM_133374:exon8:c.C600T:p.V200V exonic ENSG00000157657 NA synonymous SNV ENSG00000157657:ENST00000452710:exon7:c.C564T:p.V188V,ENSG00000157657:ENST00000288466:exon8:c.C600T:p.V200V,ENSG00000157657:ENST00000374124:exon8:c.C600T:p.V200V,ENSG00000157657:ENST00000374126:exon9:c.C696T:p.V232V Score=483;Name=lod=123 NA 9q32 Score=852;Name=V$FAC1_01 NA NA NA rs3748183 0.35 0.35 0.311 0.303315 0.3439 0.5962 0.2565 0.062 0.319 0.37 0.63 0.26 0.08 0.3498 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.161447 NA NA 0.326951 0.108662 NA 0.348 NA 6.6460156 987 9 116770785 116770785 G A exonic ZNF618 NA synonymous SNV ZNF618:NM_133374:exon8:c.G609A:p.T203T exonic ENSG00000157657 NA synonymous SNV ENSG00000157657:ENST00000452710:exon7:c.G573A:p.T191T,ENSG00000157657:ENST00000288466:exon8:c.G609A:p.T203T,ENSG00000157657:ENST00000374124:exon8:c.G609A:p.T203T,ENSG00000157657:ENST00000374126:exon9:c.G705A:p.T235T Score=483;Name=lod=123 NA 9q32 Score=790;Name=V$HTF_01 NA NA NA rs3748182 0.35 0.35 0.304 0.303914 0.3439 0.5962 0.2565 0.062 0.3221 0.37 0.63 0.26 0.08 0.3503 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.090013 NA NA 0.326778 0.108428 NA 0.348 NA 6.6456886 987 19 53740849 53740849 A G exonic ZNF677 NA synonymous SNV ZNF677:NM_182609:exon5:c.T1131C:p.C377C exonic ENSG00000197928 NA synonymous SNV ENSG00000197928:ENST00000333952:exon5:c.T1131C:p.C377C,ENSG00000197928:ENST00000598513:exon5:c.T1131C:p.C377C NA NA 19q13.42 NA Name=KAP1,ZNF274,SETDB1 NA NA rs147088386 0.01 0.01 0.003 0.00339457 0.0099 NA 0.0058 0.0008 0.002 0.01 NA 0.01 NA 0.0052 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711707 NA NA 0.00593 0.000908 ID=COSM1396076;OCCURENCE=1(large_intestine) NA NA 6.6456366 987 2 173352458 173352458 C G exonic ITGA6 NA synonymous SNV ITGA6:NM_000210:exon17:c.C2247G:p.V749V,ITGA6:NM_001079818:exon17:c.C2247G:p.V749V exonic ENSG00000091409 NA synonymous SNV ENSG00000091409:ENST00000264107:exon17:c.C2247G:p.V749V,ENSG00000091409:ENST00000343713:exon17:c.C2232G:p.V744V,ENSG00000091409:ENST00000409080:exon17:c.C2247G:p.V749V,ENSG00000091409:ENST00000409532:exon17:c.C1890G:p.V630V,ENSG00000091409:ENST00000458358:exon17:c.C2232G:p.V744V,ENSG00000091409:ENST00000264106:exon18:c.C2364G:p.V788V,ENSG00000091409:ENST00000375221:exon18:c.C2364G:p.V788V,ENSG00000091409:ENST00000442250:exon18:c.C2364G:p.V788V Score=531;Name=lod=191 NA 2q31.1 NA NA NA NA rs61748247 0.0032 0.0032 0.004 0.00459265 0.008 NA 0.0014 NA 0.0143 0.01 NA NA NA 0.0053 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958749 NA NA 0.007791 0.00227 NA NA NA 6.6455756 987 1 242162275 242162275 G A exonic MAP1LC3C NA synonymous SNV MAP1LC3C:NM_001004343:exon1:c.C36T:p.P12P exonic ENSG00000197769 NA synonymous SNV ENSG00000197769:ENST00000357246:exon1:c.C36T:p.P12P Score=463;Name=lod=102 NA 1q43 NA NA NA NA rs61737761 0.02 0.02 0.028 0.0347444 0.004 0.001 0.0144 0.1006 0.0266 0.004 NA 0.01 0.1 0.0133 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049664 NA NA 0.003838 0.091054 NA 0.043 NA 6.6455286 987 10 21827796 21827796 G A exonic MLLT10 NA synonymous SNV MLLT10:NM_001195626:exon2:c.G195A:p.P65P,MLLT10:NM_001195627:exon3:c.G195A:p.P65P,MLLT10:NM_001195628:exon3:c.G195A:p.P65P,MLLT10:NM_001195630:exon3:c.G195A:p.P65P,MLLT10:NM_004641:exon3:c.G195A:p.P65P exonic ENSG00000078403 NA synonymous SNV ENSG00000078403:ENST00000377059:exon2:c.G195A:p.P65P,ENSG00000078403:ENST00000307729:exon3:c.G195A:p.P65P,ENSG00000078403:ENST00000377072:exon3:c.G195A:p.P65P,ENSG00000078403:ENST00000377091:exon3:c.G195A:p.P65P,ENSG00000078403:ENST00000377100:exon3:c.G195A:p.P65P,ENSG00000078403:ENST00000446906:exon3:c.G195A:p.P65P Score=676;Name=lod=746 NA 10p12.31 NA NA NA NA rs1802669 0.28 0.28 0.3 0.277356 0.3579 0.0546 0.2277 0.4327 0.2495 0.35 0.03 0.25 0.46 0.3118 0.46 . . . . . . . . 0.000 P . . . . -0.922 T 0.000 T . 1.172 9.769 0.171 -0.145 -0.310 0.784 1.172082 NA NA 0.351744 0.395143 NA 0.478 NA 6.6452226 987 15 84651185 84651185 C A exonic ADAMTSL3 NA synonymous SNV ADAMTSL3:NM_207517:exon21:c.C2805A:p.P935P exonic ENSG00000156218 NA synonymous SNV ENSG00000156218:ENST00000286744:exon21:c.C2805A:p.P935P,ENSG00000156218:ENST00000567476:exon21:c.C2805A:p.P935P Score=449;Name=lod=89 NA 15q25.2 Score=781;Name=V$STAT5A_02 NA NA NA rs8031704 0.4 0.4 0.422 0.375998 0.3419 0.38 0.2536 0.5681 0.2342 0.35 0.39 0.29 0.56 0.3355 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22444 NA NA 0.34407 0.538357 ID=COSM147963;OCCURENCE=1(stomach),1(prostate) 0.428 NA 6.6451966 987 12 42491379 42491379 T A exonic GXYLT1 NA synonymous SNV GXYLT1:NM_001099650:exon6:c.A933T:p.R311R,GXYLT1:NM_173601:exon7:c.A1026T:p.R342R exonic ENSG00000151233 NA synonymous SNV ENSG00000151233:ENST00000280876:exon6:c.A933T:p.R311R,ENSG00000151233:ENST00000398675:exon7:c.A1026T:p.R342R Score=575;Name=lod=289 NA 12q12 NA NA NA NA rs139072942 0.0046 0.0046 0.005 0.00319489 0.008 NA 0.0072 NA 0.0031 0.01 NA 0.01 NA 0.0053 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340794 NA NA 0.008177 0.000539 NA NA NA 6.6451896 988 11 4615949 4615949 G A exonic OR52I1 NA synonymous SNV OR52I1:NM_001005169:exon1:c.G681A:p.R227R exonic ENSG00000232268 NA synonymous SNV ENSG00000232268:ENST00000530443:exon1:c.G681A:p.R227R,ENSG00000232268:ENST00000450052:exon2:c.G753A:p.R251R Score=343;Name=lod=33 NA 11p15.4 NA NA NA NA rs200573064 NA NA 0.003 0.00319489 0.0109 0.001 0.0043 NA 0.001 NA NA NA NA 0.0039 0.007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079148 NA NA 0.00698 0.000454 NA NA NA 6.6448866 988 1 160921049 160921049 A G exonic ITLN2 NA synonymous SNV ITLN2:NM_080878:exon4:c.T225C:p.G75G exonic ENSG00000158764 NA synonymous SNV ENSG00000158764:ENST00000368029:exon4:c.T225C:p.G75G NA NA 1q23.3 Score=882;Name=V$YY1_01 NA NA NA rs6693472 0.03 0.03 0.024 0.0449281 0.001 NA 0.0202 0.1195 0.0532 NA NA 0.02 0.1 0.0187 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022435 NA NA 0.002442 0.11212 NA 0.051 NA 6.6445246 988 19 33131227 33131227 C T exonic ANKRD27 NA synonymous SNV ANKRD27:NM_032139:exon11:c.G969A:p.T323T exonic ENSG00000105186 NA synonymous SNV ENSG00000105186:ENST00000591100:exon2:c.G51A:p.T17T,ENSG00000105186:ENST00000306065:exon11:c.G969A:p.T323T,ENSG00000105186:ENST00000587352:exon11:c.G969A:p.T323T Score=536;Name=lod=202 NA 19q13.11 NA NA NA NA rs10410241 0.06 0.06 0.074 0.0748802 0.001 NA 0.0173 0.2738 NA NA NA 0.02 0.25 0.0209 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349288 NA NA 0.000349 0.218566 NA 0.08 NA 6.6444176 988 17 76168080 76168080 G C UTR3 SYNGR2 NM_004710:c.*63G>C NA NA exonic ENSG00000108639 NA stoploss ENSG00000108639:ENST00000588282:exon3:c.G827C:p.X276S NA NA 17q25.3 NA Name=Pol2 NA NA rs143144653 0.01 0.01 0.011 0.00559105 0.0149 NA 0.013 0.0008 0.0031 0.01 NA 0.02 0.002 0.0079 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212391 NA NA NA NA NA 0.007 NA 6.6438667 988 2 100055506 100055506 A G exonic REV1 NA nonsynonymous SNV REV1:NM_001037872:exon6:c.T770C:p.F257S,REV1:NM_016316:exon6:c.T770C:p.F257S exonic ENSG00000135945 NA nonsynonymous SNV ENSG00000135945:ENST00000258428:exon6:c.T770C:p.F257S,ENSG00000135945:ENST00000393445:exon6:c.T770C:p.F257S NA NA 2q11.2 NA NA Name=2 NA rs3087386 0.57 0.57 0.551 0.580272 0.5666 0.3611 0.7003 0.7315 0.5307 0.58 0.36 0.7 0.72 0.5755 0.72 0.78 T 0.0 B 0.0 B 0.957 N 1.000 P -1.39 N 1.8 T -0.979 T 0.000 T 0.064 -0.782 0.727 -0.027 -0.622 0.717 6.440 -0.781505 NA 0.53 0.547442 0.70699 NA 0.536 NA 6.6437914 988 19 3661916 3661916 G A exonic PIP5K1C NA synonymous SNV PIP5K1C:NM_001195733:exon4:c.C303T:p.D101D,PIP5K1C:NM_012398:exon4:c.C303T:p.D101D exonic ENSG00000186111 NA synonymous SNV ENSG00000186111:ENST00000335312:exon4:c.C303T:p.D101D,ENSG00000186111:ENST00000537021:exon4:c.C303T:p.D101D,ENSG00000186111:ENST00000539785:exon4:c.C303T:p.D101D,ENSG00000186111:ENST00000589578:exon4:c.C303T:p.D101D Score=606;Name=lod=388 NA 19p13.3 NA NA NA NA rs115136413 0.0046 0.0046 0.008 0.00219649 0.0089 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17103 NA NA 0.008256 0.001589 NA NA NA 6.6436106 988 1 197031021 197031021 C T exonic F13B NA nonsynonymous SNV F13B:NM_001994:exon3:c.G344A:p.R115H exonic ENSG00000143278 NA nonsynonymous SNV ENSG00000143278:ENST00000367412:exon3:c.G344A:p.R115H NA NA 1q31.3 Score=775;Name=V$PAX5_02 NA NA NA rs6003 0.81 0.81 0.78 0.761781 0.9115 0.9831 0.879 0.3162 0.8988 0.92 0.99 0.9 0.35 0.872 0.99 0.22 T 0.0 B 0.002 B 0.781 N 1.000 P 0.345 N -0.18 T -1.024 T 0.000 T 0.138 -1.169 0.09 -0.818 -0.151 -0.455 4.868 -1.16915 NA 0.32 0.907093 0.409442 NA 0.703 CLINSIG=other;CLNDBN=Venous_thrombosis\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000017984.1;CLNDSDB=.;CLNDSDBID=. 6.6427404 988 12 120636549 120636549 C A intronic RPLP0 NA NA NA exonic ENSG00000089157 NA nonsynonymous SNV ENSG00000089157:ENST00000547173:exon5:c.G490T:p.G164C,ENSG00000089157:ENST00000551258:exon6:c.G449T:p.W150L NA NA 12q24.23 NA Name=Pol2,Pol2(b),Pol2-4H8,HEY1 Name=5 NA rs2074540 0.34 0.34 0.328 0.326278 0.1531 0.5625 0.1441 0.4539 0.2178 0.16 0.57 0.17 0.46 0.2216 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.06613 2.06613 NA 0.150349 0.417839 NA 0.203 NA 6.6416177 988 2 113309473 113309473 C T exonic POLR1B NA nonsynonymous SNV POLR1B:NM_001137604:exon5:c.C716T:p.S239L,POLR1B:NM_019014:exon6:c.C884T:p.S295L exonic ENSG00000125630 NA nonsynonymous SNV ENSG00000125630:ENST00000537335:exon3:c.C251T:p.S84L,ENSG00000125630:ENST00000417433:exon5:c.C716T:p.S239L,ENSG00000125630:ENST00000263331:exon6:c.C884T:p.S295L,ENSG00000125630:ENST00000409894:exon6:c.C884T:p.S295L,ENSG00000125630:ENST00000541869:exon7:c.C998T:p.S333L NA NA 2q13 NA NA NA NA rs1545133 0.46 0.46 0.458 0.448283 0.5726 0.4028 0.5014 0.3449 0.4693 0.56 0.35 0.54 0.36 0.5229 0.6 0.6 T 0.01 B 0.006 B 0.714 N 1.000 P -0.255 N 0.04 T -0.931 T 0.000 T 0.071 1.144 9.66 -2.63 -0.479 -0.090 5.574 1.143968 NA 0.65 0.596395 0.417158 NA 0.529 NA 6.6414384 988 16 5139186 5139186 G C exonic FAM86A NA nonsynonymous SNV FAM86A:NM_201598:exon6:c.C712G:p.H238D,FAM86A:NM_201400:exon7:c.C814G:p.H272D exonic ENSG00000118894 NA nonsynonymous SNV ENSG00000118894:ENST00000587133:exon5:c.C631G:p.H211D,ENSG00000118894:ENST00000458008:exon6:c.C712G:p.H238D,ENSG00000118894:ENST00000427587:exon7:c.C814G:p.H272D NA NA 16p13.3 NA NA NA NA rs12928528 0.47 0.47 0.391 0.434505 0.5895 0.5833 0.464 0.0703 0.593 0.59 0.6 0.51 0.12 0.5327 0.6 0.71 T 0.0 B 0.002 B 0.272 N 1.000 P -0.405 N 2.38 T -0.944 T 0.000 T 0.037 -2.915 0.001 -2.01 -0.443 -0.600 2.762 -2.915346 NA 0.86 0.57003 0.157019 ID=COSM435375;OCCURENCE=1(breast) 0.101 NA 6.6411034 988 11 44286566 44286566 G A exonic ALX4 NA synonymous SNV ALX4:NM_021926:exon4:c.C1074T:p.H358H exonic ENSG00000052850 NA synonymous SNV ENSG00000052850:ENST00000329255:exon4:c.C1074T:p.H358H Score=559;Name=lod=250 NA 11p11.2 Score=953;Name=V$USF_Q6 NA NA NA rs3802805 0.36 0.36 0.329 0.358427 0.334 0.5258 0.5202 0.1248 0.4121 0.33 0.51 0.51 0.14 0.3618 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370327 1.370327 NA 0.330077 0.166364 ID=COSM1178421;OCCURENCE=1(prostate) 0.391 NA 6.6407896 988 15 31793930 31793930 A G exonic OTUD7A NA synonymous SNV OTUD7A:NM_130901:exon8:c.T1113C:p.L371L exonic ENSG00000169918 NA synonymous SNV ENSG00000169918:ENST00000307050:exon8:c.T1113C:p.L371L,ENSG00000169918:ENST00000382902:exon8:c.T1134C:p.L378L NA Name=Venous thromboembolism 15q13.3 Score=762;Name=V$MIF1_01 NA NA NA rs7164569 0.35 0.35 0.373 0.330871 0.339 0.2212 0.3429 0.5061 0.1902 0.35 0.23 0.38 0.49 0.3349 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743618 NA NA 0.352093 0.472298 NA 0.449 NA 6.6406736 988 15 41227149 41227149 T C exonic DLL4 NA synonymous SNV DLL4:NM_019074:exon8:c.T1074C:p.H358H exonic ENSG00000128917 NA synonymous SNV ENSG00000128917:ENST00000249749:exon8:c.T1074C:p.H358H Score=482;Name=lod=121 NA 15q15.1 NA NA NA NA rs28568593 0.02 0.02 0.012 0.0115815 0.007 NA 0.0144 0.0303 0.001 0.01 NA 0.02 0.05 0.01 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126345 NA NA 0.009128 0.024225 NA 0.014 NA 6.6405386 988 10 49414953 49414953 G A exonic FRMPD2 NA synonymous SNV FRMPD2:NM_001018071:exon14:c.C1635T:p.Y545Y exonic ENSG00000170324 NA synonymous SNV ENSG00000170324:ENST00000305531:exon12:c.C1560T:p.Y520Y,ENSG00000170324:ENST00000407470:exon13:c.C1539T:p.Y513Y,ENSG00000170324:ENST00000374201:exon14:c.C1635T:p.Y545Y Score=401;Name=lod=57 NA 10q11.22 NA NA NA NA rs74133708 0.04 0.04 0.048 0.0535144 0.005 NA 0.0259 0.1853 NA 0.01 NA 0.03 0.17 0.0176 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066847 NA NA 0.003837 0.160236 NA 0.072 NA 6.6402296 988 14 104481083 104481083 T C exonic TDRD9 NA synonymous SNV TDRD9:NM_153046:exon21:c.T2128C:p.L710L exonic ENSG00000156414 NA synonymous SNV ENSG00000156414:ENST00000339063:exon21:c.T2128C:p.L710L,ENSG00000156414:ENST00000409874:exon21:c.T2128C:p.L710L NA NA 14q32.33 NA NA NA NA rs11160779 0.32 0.32 0.308 0.320288 0.3479 0.3393 0.3444 0.2769 0.3139 0.35 0.33 0.31 0.27 0.3428 0.35 . . . . . . . . 0.000 P . . . . -1.018 T 0.000 T . -0.106 3.482 -3.15 -0.934 -0.448 14.785 -0.105587 NA NA 0.335814 0.300272 ID=COSM147852,COSM147853;OCCURENCE=1(stomach) 0.304 NA 6.6401526 988 12 53072370 53072370 C T exonic KRT1 NA synonymous SNV KRT1:NM_006121:exon2:c.G762A:p.S254S exonic ENSG00000167768 NA synonymous SNV ENSG00000167768:ENST00000252244:exon2:c.G762A:p.S254S NA NA 12q13.13 Score=789;Name=V$PAX6_01 NA NA NA rs2741155 0.0023 0.0023 0.002 0.00279553 0.0089 NA 0.0043 0.0015 NA 0.004 NA 0.0028 0.002 0.0051 0.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144292 NA NA 0.012791 0.002951 ID=COSM940811;OCCURENCE=1(endometrium) NA NA 6.6398756 988 11 71515656 71515656 C T ncRNA_intronic ALG1L9P NA NA NA ncRNA_exonic ENSG00000254978 NA NA NA Score=462;Name=lod=101 NA 11q13.4 NA NA Name=3 NA rs113779704 0.01 0.01 0.013 0.0091853 0.0268 NA 0.0187 0.0023 0.0031 0.02 NA 0.02 0.002 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416087 NA NA NA NA NA 0.022 NA 6.6398666 988 3 120121656 120121656 G A exonic FSTL1 NA synonymous SNV FSTL1:NM_007085:exon9:c.C804T:p.D268D exonic ENSG00000163430 NA synonymous SNV ENSG00000163430:ENST00000424703:exon8:c.C699T:p.D233D,ENSG00000163430:ENST00000295633:exon9:c.C804T:p.D268D NA NA 3q13.33 Score=777;Name=V$PAX2_01 NA NA NA rs139355917 0.0037 0.0037 0.003 0.00239617 0.0099 NA 0.0014 0.0008 NA 0.01 NA NA NA 0.0083 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.539513 NA NA 0.008837 0.00227 NA NA NA 6.6396296 988 17 41234470 41234470 A G exonic BRCA1 NA synonymous SNV BRCA1:NM_007297:exon11:c.T4167C:p.S1389S,BRCA1:NM_007298:exon11:c.T999C:p.S333S,BRCA1:NM_007294:exon12:c.T4308C:p.S1436S,BRCA1:NM_007299:exon12:c.T999C:p.S333S,BRCA1:NM_007300:exon12:c.T4308C:p.S1436S exonic ENSG00000012048 NA synonymous SNV ENSG00000012048:ENST00000484087:exon6:c.T621C:p.S207S,ENSG00000012048:ENST00000487825:exon6:c.T624C:p.S208S,ENSG00000012048:ENST00000351666:exon8:c.T759C:p.S253S,ENSG00000012048:ENST00000309486:exon11:c.T3420C:p.S1140S,ENSG00000012048:ENST00000352993:exon11:c.T882C:p.S294S,ENSG00000012048:ENST00000493795:exon11:c.T4167C:p.S1389S,ENSG00000012048:ENST00000493919:exon11:c.T858C:p.S286S,ENSG00000012048:ENST00000346315:exon12:c.T4308C:p.S1436S,ENSG00000012048:ENST00000354071:exon12:c.T4308C:p.S1436S,ENSG00000012048:ENST00000357654:exon12:c.T4308C:p.S1436S,ENSG00000012048:ENST00000468300:exon12:c.T999C:p.S333S,ENSG00000012048:ENST00000471181:exon12:c.T4308C:p.S1436S,ENSG00000012048:ENST00000478531:exon12:c.T996C:p.S332S,ENSG00000012048:ENST00000491747:exon12:c.T999C:p.S333S NA NA 17q21.31 NA NA NA NA rs1060915 0.3 0.3 0.271 0.336262 0.3579 0.371 0.3646 0.1596 0.4969 0.36 0.33 0.38 0.13 0.3431 0.38 . . . . . . . . 1.000 P . . . . -0.931 T 0.000 T . 0.567 7.064 0.257 0.129 -0.119 2.947 0.566994 NA NA 0.326047 0.188833 NA 0.254 CLINSIG=non-pathogenic|untested|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|not|single|single;CLNACC=RCV000112313.2|RCV000114988.1|RCV000123918.1|RCV000128938.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|.|C0027672 6.6396196 988 12 81205379 81205379 G T exonic LIN7A NA synonymous SNV LIN7A:NM_004664:exon5:c.C567A:p.T189T exonic ENSG00000111052 NA synonymous SNV ENSG00000111052:ENST00000552864:exon5:c.C567A:p.T189T Score=647;Name=lod=566 NA 12q21.31 NA NA NA NA rs73137257 0.0041 0.0041 0.001 0.00219649 0.0089 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA 0.008 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255326 1.255326 NA 0.010349 0.003177 NA 0.007 NA 6.6394176 988 4 1985587 1985587 G A exonic NELFA NA synonymous SNV NELFA:NM_005663:exon9:c.C1323T:p.N441N exonic ENSG00000185049 NA synonymous SNV ENSG00000185049:ENST00000542778:exon8:c.C885T:p.N295N,ENSG00000185049:ENST00000382882:exon9:c.C1323T:p.N441N,ENSG00000185049:ENST00000411638:exon9:c.C1290T:p.N430N,ENSG00000185049:ENST00000416258:exon9:c.C1302T:p.N434N Score=552;Name=lod=233 NA 4p16.3 NA NA NA NA rs1139902 0.01 0.01 NA 0.00399361 0.007 NA 0.0086 0.003 0.0031 0.01 NA 0.02 0.01 0.0081 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.055189 NA NA 0.012209 0.001135 NA NA NA 6.6393576 988 5 176314459 176314459 G A exonic HK3 NA synonymous SNV HK3:NM_002115:exon11:c.C1593T:p.D531D exonic ENSG00000160883 NA synonymous SNV ENSG00000160883:ENST00000292432:exon11:c.C1593T:p.D531D Score=410;Name=lod=62 NA 5q35.2 Score=766;Name=V$YY1_02 NA NA NA rs2278492 0.33 0.33 0.309 0.333267 0.327 0.3948 0.4452 0.1793 0.4049 0.34 0.38 0.46 0.19 0.3584 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.358985 NA NA 0.341977 0.221062 NA 0.341 NA 6.6392896 988 19 11105608 11105608 T C exonic SMARCA4 NA synonymous SNV SMARCA4:NM_001128845:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128846:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128847:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128848:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128849:exon9:c.T1524C:p.H508H,SMARCA4:NM_003072:exon9:c.T1524C:p.H508H,SMARCA4:NM_001128844:exon10:c.T1524C:p.H508H exonic ENSG00000127616 NA synonymous SNV ENSG00000127616:ENST00000413806:exon8:c.T1524C:p.H508H,ENSG00000127616:ENST00000450717:exon8:c.T1524C:p.H508H,ENSG00000127616:ENST00000344626:exon9:c.T1524C:p.H508H,ENSG00000127616:ENST00000358026:exon9:c.T1524C:p.H508H,ENSG00000127616:ENST00000590574:exon9:c.T1524C:p.H508H,ENSG00000127616:ENST00000429416:exon10:c.T1524C:p.H508H,ENSG00000127616:ENST00000444061:exon10:c.T1524C:p.H508H,ENSG00000127616:ENST00000541122:exon10:c.T1524C:p.H508H,ENSG00000127616:ENST00000589677:exon10:c.T1524C:p.H508H Score=461;Name=lod=100 NA 19p13.2 NA NA NA NA rs7935 0.31 0.31 0.312 0.311502 0.3519 0.2639 0.2133 0.3109 0.3896 0.35 0.26 0.28 0.33 0.3353 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.874355 NA NA 0.34093 0.303677 NA 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114302.1;CLNDSDB=.;CLNDSDBID=. 6.6385366 988 11 1628992 1628992 G A exonic KRTAP5-3 NA synonymous SNV KRTAP5-3:NM_001012708:exon1:c.C624T:p.G208G exonic ENSG00000196224 NA synonymous SNV ENSG00000196224:ENST00000399685:exon1:c.C624T:p.G208G Score=300;Name=lod=22 NA 11p15.5 NA NA Name=7 NA rs60210378 0.44 0.44 0.49 0.461062 0.5239 0.3879 0.4467 0.4939 0.4376 0.49 0.37 0.41 0.46 0.5048 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.16434 NA NA NA NA NA 0.043 NA 6.6379666 988 6 44151490 44151490 G A exonic CAPN11 NA nonsynonymous SNV CAPN11:NM_007058:exon22:c.G2183A:p.S728N exonic ENSG00000137225 NA nonsynonymous SNV ENSG00000137225:ENST00000398776:exon22:c.G2183A:p.S728N,ENSG00000137225:ENST00000542245:exon22:c.G2183A:p.S728N NA NA 6p21.1 NA NA NA NA rs7761137 0.24 0.24 0.258 0.273363 0.2256 0.0099 0.232 0.5862 0.2004 0.22 0.0035 0.24 0.56 0.2368 0.56 1 T 0.0 B 0.0 B 0.522 N 1.000 P -0.53 N 1.55 T -0.930 T 0.007 T 0.017 -0.336 2.406 1.82 0.082 0.549 4.480 -0.336407 NA 1 0.233012 0.501031 NA 0.275 NA 6.6379214 988 1 245865810 245865810 C T exonic KIF26B NA synonymous SNV KIF26B:NM_018012:exon15:c.C6229T:p.L2077L exonic ENSG00000162849 NA synonymous SNV ENSG00000162849:ENST00000366518:exon12:c.C5086T:p.L1696L,ENSG00000162849:ENST00000407071:exon15:c.C6229T:p.L2077L Score=548;Name=lod=224 NA 1q44 NA NA NA NA rs61734433 0.0041 0.0041 0.005 0.00279553 0.0119 NA NA NA 0.002 0.01 NA NA NA 0.0068 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728468 NA NA 0.010117 0.001924 NA NA NA 6.6378496 989 1 100736221 100736221 C T exonic RTCA NA synonymous SNV RTCA:NM_003729:exon4:c.C399T:p.I133I,RTCA:NM_001130841:exon5:c.C438T:p.I146I exonic ENSG00000137996 NA synonymous SNV ENSG00000137996:ENST00000370128:exon4:c.C399T:p.I133I,ENSG00000137996:ENST00000260563:exon5:c.C438T:p.I146I NA NA 1p21.2 Score=872;Name=V$CDP_02 NA NA NA rs77300480 0.01 0.01 0.002 0.00299521 0.0109 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0099 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.324583 NA NA 0.011163 0.001135 NA 0.007 NA 6.6347036 989 14 22392807 22392807 T C intergenic OR4E2,DAD1 dist=258569;dist=641000 NA NA exonic ENSG00000211792 NA synonymous SNV ENSG00000211792:ENST00000390440:exon2:c.T330C:p.Y110Y Score=363;Name=lod=40 NA 14q11.2 NA Name=CTCF_(SC-5916),CTCF,EBF1_(C-8) Name=21 NA rs8008040 0.26 0.26 0.269 0.242013 0.2913 0.2619 0.3761 0.0991 0.2689 0.32 0.28 0.33 0.11 0.2908 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795786 NA NA 0.283976 0.127236 NA 0.268 NA 6.633924 989 4 91230149 91230149 A G exonic CCSER1 NA synonymous SNV CCSER1:NM_001145065:exon2:c.A714G:p.A238A,CCSER1:NM_207491:exon2:c.A714G:p.A238A exonic ENSG00000184305 NA synonymous SNV ENSG00000184305:ENST00000333691:exon2:c.A714G:p.A238A,ENSG00000184305:ENST00000432775:exon2:c.A714G:p.A238A,ENSG00000184305:ENST00000505073:exon2:c.A714G:p.A238A,ENSG00000184305:ENST00000509176:exon2:c.A714G:p.A238A NA NA 4q22.1 Score=903;Name=V$ELK1_01 NA NA NA rs146032287 0.01 0.01 0.003 0.00499201 0.0109 NA 0.013 NA 0.0051 0.01 NA 0.01 NA 0.0103 0.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791898 NA NA 0.012664 0.0016 NA NA NA 6.6328026 989 9 107581949 107581949 A C exonic ABCA1 NA synonymous SNV ABCA1:NM_005502:exon22:c.T3159G:p.V1053V exonic ENSG00000165029 NA synonymous SNV ENSG00000165029:ENST00000374736:exon22:c.T3159G:p.V1053V Score=566;Name=lod=267 NA 9q31.1 NA NA NA NA rs35871586 0.01 0.01 0.005 0.00419329 0.0159 NA 0.0058 NA 0.001 0.02 NA 0.01 NA 0.0076 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.350815 1.350815 NA 0.010465 0.002724 NA NA NA 6.6327016 989 12 70004259 70004259 G A exonic LRRC10 NA synonymous SNV LRRC10:NM_201550:exon1:c.C360T:p.L120L exonic ENSG00000198812 NA synonymous SNV ENSG00000198812:ENST00000361484:exon1:c.C360T:p.L120L Score=549;Name=lod=227 NA 12q15 NA NA NA NA rs145823585 0.01 0.01 0.007 0.00419329 0.0159 NA 0.0058 NA 0.001 0.01 NA 0.01 0.002 0.0073 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901714 NA NA 0.011395 0.001135 NA NA NA 6.6320716 989 3 9986104 9986104 G A exonic CRELD1 NA synonymous SNV CRELD1:NM_015513:exon10:c.G1104A:p.Q368Q,CRELD1:NM_001077415:exon11:c.G1104A:p.Q368Q exonic ENSG00000163703 NA synonymous SNV ENSG00000163703:ENST00000383811:exon10:c.G1104A:p.Q368Q,ENSG00000163703:ENST00000397170:exon11:c.G1104A:p.Q368Q,ENSG00000163703:ENST00000452070:exon11:c.G1104A:p.Q368Q Score=584;Name=lod=315 NA 3p25.3 NA NA NA NA rs114286445 0.01 0.01 0.005 0.00339457 0.0129 NA 0.0058 NA NA 0.02 NA 0.01 NA 0.0087 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029031 NA NA 0.013023 0.002724 NA NA NA 6.6320436 989 1 161495117 161495117 C T exonic HSPA6 NA synonymous SNV HSPA6:NM_002155:exon1:c.C669T:p.A223A exonic ENSG00000173110 NA synonymous SNV ENSG00000173110:ENST00000309758:exon1:c.C669T:p.A223A Score=631;Name=lod=491 NA 1q23.3 NA NA NA NA rs41297716 0.02 0.02 0.009 0.0173722 0.0099 0.0099 0.0548 0.0136 0.0112 0.01 0.02 0.02 0.02 0.0172 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.369571 NA NA 0.008256 0.01271 NA 0.007 NA 6.6313106 989 6 32557435 32557435 A C exonic HLA-DRB1 NA nonsynonymous SNV HLA-DRB1:NM_002124:exon1:c.T85G:p.S29A exonic ENSG00000196126 NA nonsynonymous SNV ENSG00000196126:ENST00000360004:exon1:c.T85G:p.S29A NA NA 6p21.32 NA Name=BCL3,ZEB1_(SC-25388),NFKB,PAX5-N19,p300,ZBTB33,Pol2,YY1,BCLAF1_(M33-P5B11),YY1_(C-20),Sin3Ak-20,Pol2-4H8 NA NA rs9270299 0.78 0.78 0.731 0.852236 0.8767 0.8373 0.9337 0.8737 0.7556 0.77 0.8 0.83 0.71 0.8263 0.83 1 T 0.0 B 0.0 B 0.091 N 1.000 P . . 8.44 T -0.979 T 0.000 T 0.326 -2.471 0.003 0.526 -0.353 0.026 3.093 -2.470646 NA 1 NA NA NA 0.014 NA 6.6303334 989 6 7584617 7584617 C T exonic DSP NA synonymous SNV DSP:NM_001008844:exon24:c.C5325T:p.T1775T,DSP:NM_004415:exon24:c.C7122T:p.T2374T exonic ENSG00000096696 NA synonymous SNV ENSG00000096696:ENST00000379802:exon24:c.C7122T:p.T2374T,ENSG00000096696:ENST00000418664:exon24:c.C5325T:p.T1775T NA NA 6p24.3 Score=910;Name=V$MYB_Q6 NA NA NA rs2076300 0.23 0.23 0.223 0.211661 0.3797 0.0744 0.2421 0.1369 0.2597 0.38 0.06 0.28 0.15 0.2881 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416674 NA NA 0.368953 0.172038 ID=COSM150043;OCCURENCE=1(stomach) 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038083.1;CLNDSDB=.;CLNDSDBID=. 6.6299136 989 19 17091368 17091368 T G exonic CPAMD8 NA synonymous SNV CPAMD8:NM_015692:exon14:c.A1665C:p.R555R exonic ENSG00000160111 NA synonymous SNV ENSG00000160111:ENST00000443236:exon14:c.A1665C:p.R555R Score=371;Name=lod=43 NA 19p13.11 NA NA NA NA rs8103646 0.47 0.47 0.486 0.473842 0.3509 0.5506 0.3559 0.6475 0.3701 0.36 0.55 0.37 0.64 0.3693 0.64 . . . . . . . . 0.000 P . . . . -0.938 T 0.000 T . 0.564 7.048 0.633 0.105 -0.114 7.174 0.563842 NA NA 0.316903 0.568101 NA 0.261 NA 6.6295636 989 19 52537576 52537576 T G exonic ZNF432 NA synonymous SNV ZNF432:NM_014650:exon5:c.A1356C:p.T452T exonic ENSG00000256087 NA synonymous SNV ENSG00000256087:ENST00000221315:exon5:c.A1356C:p.T452T,ENSG00000256087:ENST00000594154:exon5:c.A1356C:p.T452T Score=420;Name=lod=68 NA 19q13.41 NA Name=KAP1,SETDB1,ZNF274 NA NA rs11666149 0.49 0.49 0.492 0.560503 0.3131 0.5228 0.4697 0.7587 0.6503 0.32 0.53 0.44 0.77 0.4195 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.620126 NA NA 0.304535 0.713118 ID=COSM148715;OCCURENCE=1(stomach) 0.514 NA 6.6295316 989 9 4286255 4286255 G A exonic GLIS3 NA synonymous SNV GLIS3:NM_001042413:exon2:c.C171T:p.N57N exonic ENSG00000107249 NA synonymous SNV ENSG00000107249:ENST00000381971:exon2:c.C171T:p.N57N,ENSG00000107249:ENST00000477901:exon2:c.C171T:p.N57N,ENSG00000107249:ENST00000481827:exon2:c.C171T:p.N57N,ENSG00000107249:ENST00000491889:exon2:c.C171T:p.N57N Score=492;Name=lod=133 NA 9p24.2 NA NA NA NA rs117802495 0.01 0.01 0.004 0.00439297 0.0159 NA 0.0072 0.0008 NA 0.02 NA 0.01 NA 0.0091 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847678 NA NA 0.012204 0.001435 NA NA NA 6.6294626 989 3 9798773 9798773 C G exonic OGG1 NA nonsynonymous SNV OGG1:NM_002542:exon7:c.C977G:p.S326C,OGG1:NM_016820:exon7:c.C994G:p.P332A exonic ENSG00000114026 NA nonsynonymous SNV ENSG00000114026:ENST00000302003:exon7:c.C994G:p.P332A,ENSG00000114026:ENST00000344629:exon7:c.C977G:p.S326C NA NA 3p25.3 NA NA NA NA rs1052133 0.3 0.3 0.271 0.302117 0.2028 0.5476 0.2939 0.1551 0.3558 0.2 0.54 0.3 0.16 0.2721 0.54 0.79 T 0.245 B 0.138 B . . 1.000 P 1.24 L 0.26 T -0.903 T 0.000 T 0.138 0.047 4.259 -1.32 -0.141 0.037 3.561 0.047094 NA 0.01 0.230116 0.174081 NA 0.275 NA 6.6283174 989 6 46802316 46802316 G A exonic MEP1A NA synonymous SNV MEP1A:NM_005588:exon12:c.G1611A:p.A537A exonic ENSG00000112818 NA synonymous SNV ENSG00000112818:ENST00000230588:exon12:c.G1611A:p.A537A NA NA 6p12.3 Score=906;Name=V$TATA_01 NA NA NA rs114825458 0.01 0.01 0.005 0.00499201 0.0109 NA 0.0101 0.0023 0.0041 0.01 NA 0.01 0.002 0.0106 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585371 NA NA 0.017326 0.004312 NA 0.014 NA 6.6278406 989 8 123964767 123964767 G A exonic ZHX2 NA synonymous SNV ZHX2:NM_014943:exon3:c.G1017A:p.Q339Q exonic ENSG00000178764 NA synonymous SNV ENSG00000178764:ENST00000314393:exon3:c.G1017A:p.Q339Q Score=432;Name=lod=76 NA 8q24.13 NA NA NA NA rs16897795 0.02 0.02 0.007 0.0191693 0.008 0.0317 0.0519 0.0023 0.0174 0.01 0.03 0.06 0.0041 0.0247 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100609 NA NA 0.006279 0.001589 NA 0.022 NA 6.6276876 989 8 123966114 123966114 G A exonic ZHX2 NA synonymous SNV ZHX2:NM_014943:exon3:c.G2364A:p.S788S exonic ENSG00000178764 NA synonymous SNV ENSG00000178764:ENST00000314393:exon3:c.G2364A:p.S788S NA NA 8q24.13 NA NA Name=2 NA rs12548759 0.02 0.02 0.012 0.0191693 0.008 0.0317 0.0519 0.0023 0.0174 0.01 0.03 0.06 0.0041 0.0247 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364874 NA NA 0.006279 0.001589 NA 0.022 NA 6.6276876 989 8 123964038 123964038 T C exonic ZHX2 NA synonymous SNV ZHX2:NM_014943:exon3:c.T288C:p.H96H exonic ENSG00000178764 NA synonymous SNV ENSG00000178764:ENST00000534247:exon2:c.T288C:p.H96H,ENSG00000178764:ENST00000314393:exon3:c.T288C:p.H96H Score=513;Name=lod=162 NA 8q24.13 NA NA NA NA rs4871332 0.02 0.02 0.008 0.0191693 0.008 0.0317 0.0519 0.0023 0.0174 0.01 0.03 0.06 0.0041 0.0248 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032035 NA NA 0.006279 0.001589 NA 0.022 NA 6.6275876 989 17 46629232 46629232 G A intronic HOXB3 NA NA NA ncRNA_intronic ENSG00000233101 NA NA NA Score=313;Name=lod=25 NA 17q21.32 Score=937;Name=V$COUP_01 Name=SUZ12 NA NA rs890432 0.65 0.65 0.676 0.598642 0.7058 0.7966 0.6571 0.3411 0.591 0.71 0.83 0.66 0.35 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.417031 1.417031 NA NA NA NA 0.609 NA 6.6275333 989 9 109688482 109688482 A G exonic ZNF462 NA synonymous SNV ZNF462:NM_021224:exon3:c.A2289G:p.R763R exonic ENSG00000148143 NA synonymous SNV ENSG00000148143:ENST00000277225:exon3:c.A2289G:p.R763R,ENSG00000148143:ENST00000457913:exon3:c.A2289G:p.R763R Score=325;Name=lod=28 NA 9q31.2 NA NA NA NA rs72741799 0.01 0.01 0.006 0.00579073 0.0209 NA 0.0101 0.0008 NA 0.02 NA 0.02 NA 0.0079 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040615 NA NA 0.011047 0.002043 NA 0.007 NA 6.6268196 989 3 3170857 3170857 C T exonic TRNT1 NA synonymous SNV TRNT1:NM_182916:exon2:c.C133T:p.L45L exonic ENSG00000072756 NA synonymous SNV ENSG00000072756:ENST00000397779:exon1:c.C133T:p.L45L,ENSG00000072756:ENST00000251607:exon2:c.C133T:p.L45L,ENSG00000072756:ENST00000280591:exon2:c.C133T:p.L45L,ENSG00000072756:ENST00000339437:exon2:c.C133T:p.L45L,ENSG00000072756:ENST00000402675:exon2:c.C133T:p.L45L,ENSG00000072756:ENST00000413000:exon2:c.C133T:p.L45L,ENSG00000072756:ENST00000434583:exon2:c.C133T:p.L45L,ENSG00000072756:ENST00000420393:exon3:c.C133T:p.L45L Score=482;Name=lod=121 NA 3p26.2 NA NA NA NA rs75033443 0.04 0.04 0.051 0.0359425 0.0169 NA 0.013 0.1165 NA 0.01 NA 0.02 0.15 0.0137 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015425 NA NA 0.009767 0.085792 NA 0.036 NA 6.6262996 989 14 65197791 65197791 C A exonic PLEKHG3 NA synonymous SNV PLEKHG3:NM_015549:exon5:c.C585A:p.G195G exonic ENSG00000126822 NA synonymous SNV ENSG00000126822:ENST00000247226:exon5:c.C585A:p.G195G,ENSG00000126822:ENST00000394691:exon7:c.C753A:p.G251G Score=553;Name=lod=236 NA 14q23.3 NA NA NA NA rs61742295 0.03 0.03 0.03 0.0429313 0.0099 0.0357 0.0115 0.0787 0.0583 0.01 0.03 0.01 0.09 0.0222 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883696 NA NA 0.009186 0.069905 NA 0.065 NA 6.6253806 989 19 51628529 51628529 A G exonic SIGLEC9 NA nonsynonymous SNV SIGLEC9:NM_001198558:exon1:c.A298G:p.K100E,SIGLEC9:NM_014441:exon1:c.A298G:p.K100E exonic ENSG00000129450 NA nonsynonymous SNV ENSG00000129450:ENST00000250360:exon1:c.A298G:p.K100E,ENSG00000129450:ENST00000440804:exon1:c.A298G:p.K100E NA NA 19q13.41 NA NA NA NA rs2075803 0.51 0.51 0.451 0.525958 0.5835 0.5734 0.464 0.3843 0.6534 0.58 0.55 0.49 0.35 0.557 0.58 0.22 T 0.076 B 0.094 B 0.929 N 1.000 P 1.675 L -0.18 T -0.919 T 0.000 T 0.027 0.053 4.291 0.721 -0.132 -1.309 5.692 0.053225 NA 0.23 0.567791 0.402406 NA 0.551 NA 6.6250424 990 13 34404912 34404912 A G exonic RFC3 NA synonymous SNV RFC3:NM_002915:exon6:c.A630G:p.Q210Q,RFC3:NM_181558:exon6:c.A630G:p.Q210Q exonic ENSG00000133119 NA synonymous SNV ENSG00000133119:ENST00000380071:exon6:c.A630G:p.Q210Q,ENSG00000133119:ENST00000434425:exon6:c.A630G:p.Q210Q Score=391;Name=lod=52 NA 13q13.2 NA NA NA NA rs1805376 0.03 0.03 0.018 0.0413339 0.0109 0.0327 0.0245 0.0643 0.0624 0.01 0.02 0.02 0.05 0.0225 0.066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264363 NA NA 0.010465 0.065819 NA 0.036 NA 6.6228016 990 2 232196597 232196597 G A exonic ARMC9 NA synonymous SNV ARMC9:NM_025139:exon20:c.G1866A:p.T622T exonic ENSG00000135931 NA synonymous SNV ENSG00000135931:ENST00000349938:exon20:c.G1866A:p.T622T Score=485;Name=lod=125 NA 2q37.1 Score=717;Name=V$LUN1_01 NA NA NA rs1669084 0.3 0.3 0.301 0.294329 0.3588 0.2222 0.3372 0.2761 0.2965 0.37 0.21 0.31 0.3 0.3409 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174916 NA NA 0.344767 0.280754 NA 0.384 NA 6.6221996 990 6 116360295 116360295 C A ncRNA_exonic TPI1P3 NA NA NA ncRNA_exonic ENSG00000186743 NA NA NA Score=627;Name=lod=470 NA 6q22.1 NA Name=MafK_(ab50322) NA NA rs75648305 0.02 0.02 0.013 0.0115815 0.0447 NA 0.0101 0.0045 NA 0.04 NA 0.01 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.269919 NA NA NA NA NA NA NA 6.6219666 990 11 5475597 5475597 C T exonic OR51I2 NA synonymous SNV OR51I2:NM_001004754:exon1:c.C879T:p.S293S exonic ENSG00000187918 NA synonymous SNV ENSG00000187918:ENST00000341449:exon1:c.C879T:p.S293S Score=491;Name=lod=132 NA 11p15.4 Score=856;Name=V$EVI1_02 NA NA NA rs11037503 0.21 0.21 0.196 0.171925 0.3718 0.0417 0.3012 0.0454 0.18 0.38 0.05 0.3 0.08 0.297 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.120915 NA NA 0.376542 0.101772 NA 0.312 NA 6.6213246 990 6 111922503 111922503 G C ncRNA_exonic TRAF3IP2-AS1 NA NA NA ncRNA_exonic ENSG00000255389 NA NA NA NA NA 6q21 NA Name=ZNF263 Name=37 NA rs76228616 0.06 0.06 0.057 0.0625 0.0209 0.004 0.0764 0.1581 0.0266 0.03 0.01 0.09 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533473 NA NA 0.024513 0.140896 NA 0.029 NA 6.6212536 990 1 35919178 35919178 T C exonic KIAA0319L NA synonymous SNV KIAA0319L:NM_024874:exon12:c.A1893G:p.S631S exonic ENSG00000142687 NA synonymous SNV ENSG00000142687:ENST00000373266:exon3:c.A204G:p.S68S,ENSG00000142687:ENST00000325722:exon12:c.A1893G:p.S631S,ENSG00000142687:ENST00000426982:exon12:c.A1893G:p.S631S,ENSG00000142687:ENST00000440579:exon12:c.A1893G:p.S631S NA NA 1p34.3 NA NA Name=10 NA rs16837364 0.04 0.04 0.038 0.0471246 0.0169 0.0188 0.0086 0.1256 0.0286 0.02 0.02 0.01 0.11 0.02 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238016 NA NA 0.008953 0.095552 NA 0.065 NA 6.6208136 990 1 21036265 21036265 C T exonic KIF17 NA synonymous SNV KIF17:NM_001122819:exon4:c.G537A:p.V179V,KIF17:NM_020816:exon4:c.G537A:p.V179V exonic ENSG00000117245 NA synonymous SNV ENSG00000117245:ENST00000247986:exon4:c.G537A:p.V179V,ENSG00000117245:ENST00000375044:exon4:c.G237A:p.V79V,ENSG00000117245:ENST00000400463:exon4:c.G537A:p.V179V Score=572;Name=lod=281 NA 1p36.12 NA NA NA NA rs33996125 0.01 0.01 NA 0.00539137 0.0139 NA 0.0101 0.0015 0.0041 0.01 NA 0.01 0.0041 0.013 0.019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.431034 1.431034 NA 0.019302 0.004766 NA 0.014 NA 6.6204646 990 1 76107339 76107339 A G intergenic SLC44A5,ACADM dist=30540;dist=82704 NA NA ncRNA_exonic ENSG00000230863 NA NA NA Score=737;Name=lod=1315 NA 1p31.1 NA Name=GATA3_(SC-268) Name=6 NA rs211716 0.6 0.6 0.607 0.616214 0.3797 0.9504 0.487 0.6309 0.5869 0.4 0.94 0.47 0.62 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559159 NA NA NA NA NA 0.58 NA 6.6203 990 14 96157187 96157187 G A exonic TCL1B NA nonsynonymous SNV TCL1B:NM_004918:exon2:c.G277A:p.G93R exonic ENSG00000213231 NA nonsynonymous SNV ENSG00000213231:ENST00000340722:exon2:c.G277A:p.G93R NA NA 14q32.13 NA NA NA NA rs1064017 0.28 0.28 0.283 0.262181 0.4105 0.0873 0.3372 0.2413 0.2648 0.4 0.11 0.32 0.26 0.3571 0.45 0.91 T 0.946 P 0.347 B . . 1.000 P 1.445 L 1.67 T -0.965 T 0.000 T 0.089 2.369 13.88 0.758 0.160 0.137 2.351 2.369441 2.369441 0.82 0.445581 0.29369 ID=COSM1371885;OCCURENCE=1(skin),1(large_intestine) 0.319 NA 6.6201524 990 13 25745098 25745098 G C exonic AMER2 NA synonymous SNV AMER2:NM_152704:exon1:c.C660G:p.P220P,AMER2:NM_199138:exon1:c.C660G:p.P220P exonic ENSG00000165566 NA synonymous SNV ENSG00000165566:ENST00000381853:exon1:c.C660G:p.P220P,ENSG00000165566:ENST00000515384:exon1:c.C660G:p.P220P,ENSG00000165566:ENST00000357816:exon2:c.C660G:p.P220P NA NA 13q12.13 NA NA Name=8 NA rs201629500 0.01 0.01 NA 0.00658946 0.0209 NA 0.0115 0.0008 0.0031 0.02 NA 0.01 0.01 0.0149 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039758 NA NA 0.010837 0.00142 NA NA NA 6.6200296 990 1 12336147 12336147 T C exonic VPS13D NA synonymous SNV VPS13D:NM_015378:exon19:c.T2502C:p.N834N,VPS13D:NM_018156:exon19:c.T2502C:p.N834N exonic ENSG00000048707 NA synonymous SNV ENSG00000048707:ENST00000356315:exon19:c.T2502C:p.N834N,ENSG00000048707:ENST00000358136:exon19:c.T2502C:p.N834N Score=608;Name=lod=395 NA 1p36.22 NA NA NA NA rs7546794 0.03 0.03 0.02 0.0267572 0.0099 NA 0.0144 0.0802 0.0082 0.01 NA 0.02 0.08 0.0189 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133327 NA NA 0.019535 0.079437 NA 0.029 NA 6.6183316 990 2 61937966 61937966 C T intergenic XPO1,FAM161A dist=172548;dist=114017 NA NA ncRNA_exonic ENSG00000213486 NA NA NA Score=609;Name=lod=399 NA 2p15 NA Name=HNF4G_(SC-6558),HNF4A_(H-171) Name=2 NA rs10199975 0.36 0.36 0.39 0.355032 0.3817 0.1062 0.3314 0.6241 0.2372 0.38 0.11 0.35 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344227 NA NA NA NA NA 0.297 NA 6.6183 990 18 44595647 44595647 C T exonic KATNAL2 NA synonymous SNV KATNAL2:NM_031303:exon9:c.C666T:p.G222G exonic ENSG00000167216 NA synonymous SNV ENSG00000167216:ENST00000586198:exon1:c.C54T:p.G18G,ENSG00000167216:ENST00000245121:exon9:c.C666T:p.G222G,ENSG00000167216:ENST00000356157:exon10:c.C882T:p.G294G Score=476;Name=lod=115 NA 18q21.1 NA NA NA NA rs56297904 0.01 0.01 0.006 0.00638978 0.0219 NA 0.0086 0.0008 0.0031 0.02 NA 0.01 0.002 0.0108 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076876 NA NA 0.015814 0.004085 NA 0.022 NA 6.6181526 990 17 37627387 37627387 A G exonic CDK12 NA synonymous SNV CDK12:NM_015083:exon2:c.A1302G:p.S434S,CDK12:NM_016507:exon2:c.A1302G:p.S434S exonic ENSG00000167258 NA synonymous SNV ENSG00000167258:ENST00000430627:exon2:c.A1302G:p.S434S,ENSG00000167258:ENST00000447079:exon2:c.A1302G:p.S434S,ENSG00000167258:ENST00000584632:exon2:c.A1299G:p.S433S Score=514;Name=lod=164 NA 17q12 NA NA NA NA rs56158954 0.01 0.01 0.006 0.00559105 0.0179 NA 0.0115 NA 0.002 0.02 NA 0.01 NA 0.0114 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580313 NA NA 0.019767 0.004766 ID=COSM436487;OCCURENCE=1(breast) NA NA 6.6175996 990 22 39712936 39712936 G A intronic RPL3 NA NA NA exonic ENSG00000100316 NA synonymous SNV ENSG00000100316:ENST00000420536:exon4:c.C456T:p.H152H NA NA 22q13.1 NA Name=Pol2-4H8 Name=11 NA rs12484030 0.08 0.08 0.087 0.0854633 0.1093 0.0308 0.0605 0.1233 0.0838 0.11 0.02 0.07 0.12 0.1072 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668194 NA NA NA NA NA 0.101 NA 6.6168333 990 7 150389677 150389677 G C exonic GIMAP2 NA synonymous SNV GIMAP2:NM_015660:exon3:c.G303C:p.L101L exonic ENSG00000106560 NA synonymous SNV ENSG00000106560:ENST00000223293:exon3:c.G303C:p.L101L NA NA 7q36.1 NA Name=CTCF Name=2 NA rs6952002 0.43 0.43 0.44 0.490216 0.337 0.2907 0.304 0.8661 0.4775 0.33 0.3 0.32 0.84 0.3827 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075022 NA NA 0.330349 0.787562 ID=COSM1449191;OCCURENCE=1(large_intestine) 0.464 NA 6.6166176 990 1 111968121 111968121 C T intronic OVGP1 NA NA NA intronic ENSG00000085465 NA NA NA NA NA 1p13.2 NA NA NA NA rs1264887 0.27 0.27 0.256 0.263179 0.1103 0.4395 0.1441 0.3215 0.2444 0.12 0.46 0.17 0.34 0.1896 0.46 . . . . . . . . 1.000 P . . . . . . . . . -0.545 1.53 -4.99 -1.198 -0.623 5.376 -0.544537 NA 1 0.083909 0.28685 ID=COSM146581;OCCURENCE=1(stomach) 0.196 NA 6.616191 990 6 29974608 29974608 C G ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000237669 NA NA NA NA NA 6p22.1 NA Name=SUZ12 Name=9 NA rs9261106 0.05 0.05 0.054 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655727 NA NA NA NA NA 0.029 NA 6.6159666 990 6 29974672 29974672 T G ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000237669 NA NA NA Score=371;Name=lod=43 NA 6p22.1 NA NA Name=9 NA rs9261107 0.05 0.05 0.055 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959899 NA 0 NA NA NA 0.029 NA 6.6159666 990 6 29975093 29975093 A T ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_exonic ENSG00000204623 NA NA NA Score=336;Name=lod=31 NA 6p22.1 NA NA Name=7 NA rs6939616 0.05 0.05 0.044 0.0495208 0.0507 0.0357 0.0994 0.0499 0.0266 0.05 0.04 0.06 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519856 NA NA NA NA NA NA NA 6.6159666 990 6 29975095 29975095 G C ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000204623 NA NA NA Score=336;Name=lod=31 NA 6p22.1 NA NA Name=7 NA rs6940082 0.05 0.05 0.039 0.0495208 0.0507 0.0357 0.0994 0.0499 0.0266 0.05 0.04 0.06 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532058 NA 0 NA NA NA NA NA 6.6159666 990 12 56531660 56531660 C T exonic ESYT1 NA synonymous SNV ESYT1:NM_001184796:exon19:c.C2190T:p.V730V,ESYT1:NM_015292:exon19:c.C2160T:p.V720V exonic ENSG00000139641 NA synonymous SNV ENSG00000139641:ENST00000267113:exon19:c.C2190T:p.V730V,ENSG00000139641:ENST00000394048:exon19:c.C2160T:p.V720V,ENSG00000139641:ENST00000541590:exon19:c.C2190T:p.V730V Score=630;Name=lod=486 NA 12q13.2 NA NA NA NA rs74967048 0.01 0.01 0.005 0.00678914 0.0219 0.001 0.013 NA 0.002 0.03 0.0017 0.02 0.002 0.0125 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170487 NA NA 0.01686 0.004085 NA NA NA 6.6154066 990 12 49717533 49717533 A C exonic TROAP NA synonymous SNV TROAP:NM_001100620:exon2:c.A142C:p.R48R,TROAP:NM_005480:exon2:c.A142C:p.R48R exonic ENSG00000135451 NA synonymous SNV ENSG00000135451:ENST00000551567:exon1:c.A142C:p.R48R,ENSG00000135451:ENST00000257909:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000380327:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000546735:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000546776:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000547807:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000548311:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000549275:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000549534:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000549891:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000550346:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000550709:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000551192:exon2:c.A142C:p.R48R,ENSG00000135451:ENST00000551245:exon2:c.A142C:p.R48R Score=439;Name=lod=81 NA 12q13.12 NA NA NA NA rs8285 0.05 0.05 0.059 0.0628994 0.0109 0.001 0.0303 0.1906 0.0307 0.01 NA 0.04 0.18 0.0285 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.36808 3.36808 NA 0.011977 0.163414 NA 0.065 NA 6.6152896 991 1 9322155 9322155 C T exonic H6PD NA synonymous SNV H6PD:NM_004285:exon4:c.C783T:p.R261R exonic ENSG00000049239 NA synonymous SNV ENSG00000049239:ENST00000377403:exon4:c.C783T:p.R261R,ENSG00000049239:ENST00000602477:exon4:c.C816T:p.R272R NA NA 1p36.22 Score=814;Name=V$PAX2_01 NA NA NA rs149778702 0.01 0.01 0.01 0.00519169 0.0209 NA 0.0029 NA 0.0031 0.02 NA 0.0028 NA 0.0127 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051019 NA NA 0.018256 0.004539 NA 0.007 NA 6.6148106 991 19 46124564 46124564 G A exonic EML2 NA synonymous SNV EML2:NM_012155:exon11:c.C1023T:p.R341R,EML2:NM_001193268:exon14:c.C1626T:p.R542R,EML2:NM_001193269:exon14:c.C1464T:p.R488R exonic ENSG00000125746 NA synonymous SNV ENSG00000125746:ENST00000590575:exon3:c.C246T:p.R82R,ENSG00000125746:ENST00000588496:exon6:c.C570T:p.R190R,ENSG00000125746:ENST00000245925:exon11:c.C1023T:p.R341R,ENSG00000125746:ENST00000588308:exon11:c.C1023T:p.R341R,ENSG00000125746:ENST00000589876:exon11:c.C1023T:p.R341R,ENSG00000125746:ENST00000399594:exon14:c.C1497T:p.R499R,ENSG00000125746:ENST00000536630:exon14:c.C1464T:p.R488R,ENSG00000125746:ENST00000587152:exon14:c.C1626T:p.R542R Score=317;Name=lod=26 NA 19q13.32 NA NA NA NA rs146103183 0.01 0.01 0.006 0.00798722 0.0189 NA 0.0187 NA 0.0082 0.01 NA 0.02 NA 0.013 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866509 NA NA 0.020233 0.004993 NA 0.007 NA 6.6145336 991 12 124417973 124417973 C T exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon76:c.C13038T:p.N4346N exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon76:c.C13038T:p.N4346N Score=543;Name=lod=214 NA 12q24.31 NA NA NA NA rs56219209 0.01 0.01 0.008 0.00798722 0.0189 0.005 0.0072 0.0008 0.0102 0.02 NA 0.01 0.002 0.0134 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088795 NA NA 0.020236 0.003535 NA 0.014 NA 6.6141306 991 1 167663476 167663476 A G exonic RCSD1 NA synonymous SNV RCSD1:NM_052862:exon5:c.A411G:p.A137A exonic ENSG00000198771 NA synonymous SNV ENSG00000198771:ENST00000361496:exon4:c.A339G:p.A113A,ENSG00000198771:ENST00000537350:exon4:c.A321G:p.A107A,ENSG00000198771:ENST00000367854:exon5:c.A411G:p.A137A Score=387;Name=lod=50 NA 1q24.2 NA NA NA NA rs7554805 0.01 0.01 0.005 0.00579073 0.0209 0.001 0.0029 0.0008 0.0041 0.02 NA 0.01 0.002 0.0144 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376854 1.376854 NA 0.017791 0.004993 NA 0.007 NA 6.6135756 991 12 4920767 4920767 T C exonic KCNA6 NA synonymous SNV KCNA6:NM_002235:exon1:c.T1560C:p.Y520Y exonic ENSG00000151079 NA synonymous SNV ENSG00000151079:ENST00000280684:exon1:c.T1560C:p.Y520Y,ENSG00000151079:ENST00000433855:exon1:c.T1560C:p.Y520Y Score=422;Name=lod=69 NA 12p13.32 NA NA NA NA rs34642709 0.01 0.01 0.01 0.0133786 0.0189 NA 0.0043 0.0015 0.044 0.02 NA 0.01 0.0041 0.0164 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.755569 NA NA 0.017907 0.001589 NA 0.007 NA 6.6134596 991 7 150491084 150491084 T G exonic TMEM176B NA nonsynonymous SNV TMEM176B:NM_001101311:exon3:c.A280C:p.S94R,TMEM176B:NM_001101312:exon3:c.A280C:p.S94R,TMEM176B:NM_014020:exon3:c.A280C:p.S94R exonic ENSG00000106565 NA nonsynonymous SNV ENSG00000106565:ENST00000429904:exon2:c.A280C:p.S94R,ENSG00000106565:ENST00000326442:exon3:c.A280C:p.S94R,ENSG00000106565:ENST00000434545:exon3:c.A280C:p.S94R,ENSG00000106565:ENST00000447204:exon3:c.A280C:p.S94R,ENSG00000106565:ENST00000492607:exon4:c.A280C:p.S94R NA NA 7q36.1 NA NA Name=10 NA rs3173833 0.55 0.55 0.543 0.544129 0.5825 0.6111 0.4597 0.5045 0.5491 0.56 0.65 0.47 0.49 0.5589 0.65 0.45 T 0.0 B 0.001 B 0.683 N 1.000 P -1.475 N 4.4 T -1.052 T 0.000 T 0.072 -0.845 0.561 -0.527 -0.080 -0.697 3.203 -0.845274 NA 0.39 0.578488 0.508398 ID=COSM323877;OCCURENCE=1(lung),1(large_intestine) 0.428 NA 6.6134454 991 6 30882634 30882634 C T exonic VARS2 NA synonymous SNV VARS2:NM_001167734:exon2:c.C111T:p.A37A,VARS2:NM_020442:exon2:c.C21T:p.A7A exonic ENSG00000137411 NA synonymous SNV ENSG00000137411:ENST00000321897:exon1:c.C21T:p.A7A,ENSG00000137411:ENST00000416670:exon2:c.C21T:p.A7A,ENSG00000137411:ENST00000421263:exon2:c.C21T:p.A7A,ENSG00000137411:ENST00000428017:exon2:c.C21T:p.A7A,ENSG00000137411:ENST00000541562:exon2:c.C111T:p.A37A NA NA 6p21.33 NA Name=Pol2,YY1,YY1_(C-20) Name=7 NA rs1264302 0.24 0.24 0.235 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3215 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300741 1.300741 NA 0.375923 0.145461 NA 0.283 NA 6.6133436 991 11 113078035 113078035 C T exonic NCAM1 NA synonymous SNV NCAM1:NM_000615:exon7:c.C681T:p.L227L,NCAM1:NM_001076682:exon7:c.C681T:p.L227L,NCAM1:NM_001242607:exon7:c.C681T:p.L227L,NCAM1:NM_001242608:exon7:c.C681T:p.L227L,NCAM1:NM_181351:exon7:c.C681T:p.L227L exonic ENSG00000149294 NA synonymous SNV ENSG00000149294:ENST00000316851:exon5:c.C651T:p.L217L,ENSG00000149294:ENST00000401611:exon6:c.C678T:p.L226L,ENSG00000149294:ENST00000524665:exon6:c.C858T:p.L286L,ENSG00000149294:ENST00000533760:exon6:c.C327T:p.L109L Score=443;Name=lod=84 NA 11q23.2 NA NA NA NA rs17115154 0.01 0.01 0.011 0.00579073 0.0209 NA 0.0086 0.0008 0.001 0.02 NA 0.01 NA 0.0127 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.198509 NA NA 0.019731 0.004931 NA NA NA 6.6133356 991 1 120054208 120054208 C T exonic HSD3B1 NA synonymous SNV HSD3B1:NM_000862:exon3:c.C228T:p.V76V exonic ENSG00000203857 NA synonymous SNV ENSG00000203857:ENST00000528909:exon2:c.C228T:p.V76V,ENSG00000203857:ENST00000235547:exon3:c.C234T:p.V78V,ENSG00000203857:ENST00000369413:exon3:c.C228T:p.V76V,ENSG00000203857:ENST00000531340:exon3:c.C228T:p.V76V NA NA 1p12 Score=779;Name=V$P53_01 NA NA NA rs6200 0.09 0.09 0.076 0.128794 0.005 0.0546 0.0677 0.357 0.0675 0.0013 0.03 0.06 0.32 0.0456 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.844325 NA NA 0.003372 0.291194 NA 0.109 NA 6.6126946 991 21 39775558 39775558 G A exonic ERG NA synonymous SNV ERG:NM_001136155:exon3:c.C186T:p.D62D,ERG:NM_001243429:exon4:c.C186T:p.D62D,ERG:NM_182918:exon4:c.C462T:p.D154D,ERG:NM_001136154:exon6:c.C483T:p.D161D,ERG:NM_001243428:exon6:c.C483T:p.D161D,ERG:NM_001243432:exon6:c.C483T:p.D161D,ERG:NM_004449:exon6:c.C483T:p.D161D exonic ENSG00000157554 NA synonymous SNV ENSG00000157554:ENST00000453032:exon3:c.C186T:p.D62D,ENSG00000157554:ENST00000288319:exon4:c.C462T:p.D154D,ENSG00000157554:ENST00000398897:exon4:c.C186T:p.D62D,ENSG00000157554:ENST00000398905:exon4:c.C462T:p.D154D,ENSG00000157554:ENST00000398907:exon4:c.C462T:p.D154D,ENSG00000157554:ENST00000398911:exon5:c.C483T:p.D161D,ENSG00000157554:ENST00000398910:exon6:c.C483T:p.D161D,ENSG00000157554:ENST00000398919:exon6:c.C483T:p.D161D,ENSG00000157554:ENST00000417133:exon6:c.C483T:p.D161D,ENSG00000157554:ENST00000442448:exon6:c.C483T:p.D161D Score=393;Name=lod=53 NA 21q22.2 NA NA NA NA rs17230484 0.01 0.01 0.008 0.0061901 0.0179 NA 0.0101 0.003 0.002 0.02 NA 0.02 0.002 0.0166 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484317 NA NA 0.019651 0.005901 NA 0.022 NA 6.6125156 991 17 39563686 39563686 A G ncRNA_intronic LOC100505782 NA NA NA ncRNA_exonic ENSG00000225438 NA NA NA Score=376;Name=lod=45 NA 17q21.2 NA Name=CEBPB NA NA rs117287459 0.03 0.03 0.017 0.0175719 0.0547 NA 0.0418 0.0015 0.002 0.05 NA 0.04 0.002 NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456002 NA NA NA NA NA 0.036 NA 6.6119666 991 13 99948178 99948178 C A exonic GPR183 NA synonymous SNV GPR183:NM_004951:exon2:c.G222T:p.V74V exonic ENSG00000169508 NA synonymous SNV ENSG00000169508:ENST00000376414:exon2:c.G222T:p.V74V Score=603;Name=lod=375 NA 13q32.3 NA NA Name=2 NA rs2230342 0.27 0.27 0.274 0.256789 0.3748 0.1875 0.2421 0.2103 0.2802 0.35 0.2 0.28 0.2 0.308 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642609 NA NA 0.373372 0.24512 NA 0.246 NA 6.6104946 991 6 30882781 30882781 G T exonic VARS2 NA synonymous SNV VARS2:NM_001167734:exon2:c.G258T:p.A86A,VARS2:NM_020442:exon2:c.G168T:p.A56A exonic ENSG00000137411 NA synonymous SNV ENSG00000137411:ENST00000321897:exon1:c.G168T:p.A56A,ENSG00000137411:ENST00000416670:exon2:c.G168T:p.A56A,ENSG00000137411:ENST00000421263:exon2:c.G168T:p.A56A,ENSG00000137411:ENST00000428017:exon2:c.G168T:p.A56A,ENSG00000137411:ENST00000541562:exon2:c.G258T:p.A86A NA NA 6p21.33 NA Name=ZBTB7A_(SC-34508),Pol2-4H8,YY1_(C-20),TAF1,TAL1_(SC-12984) Name=7 NA rs1264301 0.24 0.24 0.25 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3236 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127671 NA NA 0.376892 0.146358 NA 0.283 NA 6.6102746 991 10 90749256 90749256 G A intronic ACTA2 NA NA NA intronic ENSG00000107796 NA NA NA NA NA 10q23.31 NA Name=POU2F2,Oct-2,EBF1_(C-8),EBF Name=4 NA rs2234767 0.17 0.17 0.149 0.184105 0.1233 0.4187 0.1974 0.0257 0.2096 0.11 0.38 0.17 0.03 0.1475 0.38 0.36 T . . . . . . 1.000 P . . . . -0.921 T 0.000 T . -0.08 3.61 -0.743 -0.139 -0.853 5.716 -0.079722 NA 0 0.119036 0.049658 NA 0.08 NA 6.610164 991 9 139368953 139368953 G A exonic SEC16A NA nonsynonymous SNV SEC16A:NM_001276418:exon2:c.C3115T:p.R1039C,SEC16A:NM_014866:exon3:c.C3115T:p.R1039C exonic ENSG00000148396 NA nonsynonymous SNV ENSG00000148396:ENST00000290037:exon1:c.C2581T:p.R861C,ENSG00000148396:ENST00000313050:exon1:c.C3115T:p.R1039C,ENSG00000148396:ENST00000371706:exon1:c.C2581T:p.R861C,ENSG00000148396:ENST00000431893:exon1:c.C2581T:p.R861C NA NA 9q34.3 NA NA NA NA rs3812594 0.16 0.16 0.141 0.134185 0.2535 0.0536 0.255 0.0401 0.136 0.26 0.07 0.23 0.05 0.21 0.26 0.12 T 0.004 B 0.001 B 0.391 N 1.000 P 0 N 1.89 T -0.956 T 0.000 T 0.078 1.581 11.24 0.615 -0.076 0.335 5.795 1.581289 1.581289 0.08 0.261344 0.073037 NA 0.13 NA 6.6084894 991 6 29694443 29694443 A G ncRNA_exonic HLA-F-AS1 NA NA NA ncRNA_exonic ENSG00000214922 NA NA NA Score=737;Name=lod=1318 NA 6p22.1 NA Name=Pol2-4H8 NA NA rs62391801 0.06 0.06 0.033 0.0756789 0.0586 0.1567 0.0375 0.0008 0.138 0.06 0.14 0.03 0.002 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927866 NA NA NA NA NA 0.087 NA 6.6080666 991 2 198362018 198362018 T C exonic HSPD1 NA synonymous SNV HSPD1:NM_002156:exon3:c.A273G:p.K91K,HSPD1:NM_199440:exon3:c.A273G:p.K91K exonic ENSG00000144381 NA synonymous SNV ENSG00000144381:ENST00000345042:exon3:c.A273G:p.K91K,ENSG00000144381:ENST00000388968:exon3:c.A273G:p.K91K,ENSG00000144381:ENST00000426480:exon3:c.A399G:p.K133K,ENSG00000144381:ENST00000430176:exon3:c.A273G:p.K91K,ENSG00000144381:ENST00000452200:exon3:c.A273G:p.K91K,ENSG00000144381:ENST00000544407:exon3:c.A273G:p.K91K,ENSG00000144381:ENST00000428204:exon4:c.A273G:p.K91K Score=719;Name=lod=1119 NA 2q33.1 Score=893;Name=V$FOXJ2_01 NA NA NA rs8539 0.66 0.66 0.701 0.654553 0.7256 0.4722 0.6225 0.7474 0.6667 0.72 0.53 0.63 0.75 0.649 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116213 NA NA 0.684186 0.717204 NA 0.696 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117240.2|RCV000125392.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.6078806 991 6 76633385 76633385 C T exonic IMPG1 NA nonsynonymous SNV IMPG1:NM_001563:exon16:c.G2282A:p.S761N exonic ENSG00000112706 NA nonsynonymous SNV ENSG00000112706:ENST00000369952:exon3:c.G365A:p.S122N,ENSG00000112706:ENST00000369950:exon16:c.G2282A:p.S761N NA NA 6q14.1 NA NA NA NA rs3778005 0.16 0.16 0.124 0.124201 0.2634 0.0546 0.2262 0.0212 0.1196 0.27 0.05 0.25 0.02 0.2017 0.27 0.4 T 0.004 B 0.002 B 0.396 N 1.000 P 0.55 N 2.12 T -0.968 T 0.010 T 0.004 -2.193 0.005 0.067 -0.129 0.064 3.327 -2.192799 NA 0.1 0.260531 0.060627 NA 0.152 NA 6.6077024 991 17 79496295 79496295 T C exonic FSCN2 NA synonymous SNV FSCN2:NM_001077182:exon1:c.T738C:p.P246P,FSCN2:NM_012418:exon1:c.T738C:p.P246P exonic ENSG00000186765 NA synonymous SNV ENSG00000186765:ENST00000334850:exon1:c.T738C:p.P246P,ENSG00000186765:ENST00000417245:exon1:c.T738C:p.P246P NA NA 17q25.3 NA NA NA NA rs34567655 0.07 0.07 0.072 0.100639 0.005 0.006 0.0389 0.295 0.0777 0.01 0.01 0.03 0.28 0.0487 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.366265 NA NA 0.005453 0.243281 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079420.1;CLNDSDB=.;CLNDSDBID=. 6.6075136 991 7 100550354 100550354 C A intergenic ACHE,MUC12 dist=56813;dist=62550 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.C935A:p.T312N NA NA 7q22.1 NA NA NA NA rs74220905 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2259 NA 0.29 T . . . . . . . . 0.345 N . . -0.989 T 0.061 T 0.093 0.622 7.348 1.06 0.377 -1.313 6.701 0.622196 NA 0.52 NA NA NA 0.007 NA 6.6074334 991 1 210856818 210856818 T A exonic KCNH1 NA synonymous SNV KCNH1:NM_002238:exon11:c.A2694T:p.T898T,KCNH1:NM_172362:exon11:c.A2775T:p.T925T exonic ENSG00000143473 NA synonymous SNV ENSG00000143473:ENST00000271751:exon11:c.A2775T:p.T925T,ENSG00000143473:ENST00000367007:exon11:c.A2694T:p.T898T NA NA 1q32.2 Score=749;Name=V$NRSF_01 NA NA NA rs114571785 0.01 0.01 0.006 0.00958466 0.0189 NA 0.0231 0.0008 0.0123 0.02 NA 0.02 0.002 0.0202 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4662 NA NA 0.020349 0.003404 NA 0.007 NA 6.6072176 991 5 178416063 178416063 G A exonic GRM6 NA synonymous SNV GRM6:NM_000843:exon6:c.C1227T:p.Y409Y exonic ENSG00000113262 NA synonymous SNV ENSG00000113262:ENST00000231188:exon6:c.C1227T:p.Y409Y,ENSG00000113262:ENST00000517717:exon7:c.C1227T:p.Y409Y Score=549;Name=lod=227 NA 5q35.3 NA NA NA NA rs2645339 0.52 0.52 0.504 NA NA NA NA NA NA 0.55 0.59 0.49 0.43 0.5256 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048903 NA NA 0.53407 0.398774 ID=COSM1180460;OCCURENCE=1(prostate) 0.551 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000086023.2;CLNDSDB=.;CLNDSDBID=. 6.6069966 991 6 44371690 44371690 T C exonic CDC5L NA synonymous SNV CDC5L:NM_001253:exon6:c.T684C:p.S228S exonic ENSG00000096401 NA synonymous SNV ENSG00000096401:ENST00000371477:exon6:c.T684C:p.S228S Score=727;Name=lod=1200 NA 6p21.1 NA NA NA NA rs11571943 0.02 0.02 0.025 0.0239617 0.0169 0.002 0.0187 0.053 0.0184 0.02 NA 0.02 0.05 0.0223 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109224 NA NA 0.020814 0.046981 NA 0.051 NA 6.6066526 991 1 43825644 43825644 T C exonic CDC20 NA synonymous SNV CDC20:NM_001255:exon5:c.T432C:p.Y144Y exonic ENSG00000117399 NA synonymous SNV ENSG00000117399:ENST00000372462:exon4:c.T432C:p.Y144Y,ENSG00000117399:ENST00000310955:exon5:c.T432C:p.Y144Y Score=514;Name=lod=163 NA 1p34.2 NA NA Name=20 NA rs839763 0.28 0.28 0.248 0.229034 0.3708 0.1071 0.3674 0.2436 0.091 0.38 0.11 0.38 0.27 0.3069 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782527 NA NA 0.382326 0.281888 NA 0.362 NA 6.6066406 991 6 33768897 33768897 A G exonic MLN NA nonsynonymous SNV MLN:NM_001040109:exon2:c.T44C:p.V15A,MLN:NM_001184698:exon2:c.T44C:p.V15A,MLN:NM_002418:exon2:c.T44C:p.V15A exonic ENSG00000096395 NA nonsynonymous SNV ENSG00000096395:ENST00000266003:exon2:c.T44C:p.V15A,ENSG00000096395:ENST00000430124:exon2:c.T44C:p.V15A,ENSG00000096395:ENST00000507738:exon2:c.T44C:p.V15A NA NA 6p21.31 NA Name=ERalpha_a NA NA rs2281820 0.61 0.61 0.588 0.631589 0.5368 0.8562 0.5216 0.4932 0.7628 0.54 0.83 0.51 0.52 0.6096 0.83 0.68 T 0.0 B 0.0 B 0.544 N 1.000 P 0.83 L 0.71 T -1.054 T 0.027 T 0.067 -0.818 0.628 -1.12 -0.651 -0.753 7.218 -0.818365 NA 0.57 0.580698 0.505901 NA 0.71 NA 6.6062354 991 18 9936132 9936132 T C exonic VAPA NA synonymous SNV VAPA:NM_003574:exon3:c.T258C:p.D86D,VAPA:NM_194434:exon3:c.T258C:p.D86D exonic ENSG00000101558 NA synonymous SNV ENSG00000101558:ENST00000340541:exon3:c.T258C:p.D86D,ENSG00000101558:ENST00000400000:exon3:c.T258C:p.D86D Score=681;Name=lod=782 NA 18p11.22 NA NA NA NA rs29152 0.05 0.05 0.041 0.0553115 0.0169 0.0774 0.0447 0.0991 0.0204 0.02 0.07 0.03 0.11 0.0315 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.272911 1.272911 NA 0.012325 0.100427 NA 0.058 NA 6.6059416 991 16 56670827 56670827 C T ncRNA_exonic MT1JP NA NA NA ncRNA_exonic ENSG00000255986 NA NA NA NA NA 16q12.2 Score=781;Name=V$OCT1_01 Name=SUZ12 NA NA rs11076159 0.08 0.08 0.092 0.0876597 0.0229 0.1052 0.0432 0.1982 0.0184 0.03 0.09 0.04 0.2 0.038 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722298 NA NA NA NA NA 0.101 NA 6.6057666 992 9 90502458 90502458 T A exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.T3056A:p.V1019E exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.T3056A:p.V1019E NA NA 9q22.1 NA NA NA NA rs10868670 0.75 0.75 0.761 0.761781 0.5666 0.88 0.7205 0.9501 0.6155 0.56 0.87 0.71 0.94 0.6223 0.94 1 T 0.0 B 0.0 B . . 1.000 P -0.695 N 4.07 T -1.021 T 0.000 T 0.035 -1.487 0.018 2.16 0.189 -0.014 2.740 -1.486716 NA 1 0.539535 0.881071 NA 0.717 NA 6.6048984 992 9 100367813 100367813 A G exonic TSTD2 NA synonymous SNV TSTD2:NM_139246:exon8:c.T1065C:p.C355C exonic ENSG00000136925 NA synonymous SNV ENSG00000136925:ENST00000375165:exon5:c.T285C:p.C95C,ENSG00000136925:ENST00000354801:exon6:c.T285C:p.C95C,ENSG00000136925:ENST00000341170:exon8:c.T1065C:p.C355C,ENSG00000136925:ENST00000375172:exon8:c.T387C:p.C129C Score=650;Name=lod=584 NA 9q22.33 NA NA NA NA rs1928642 0.13 0.13 0.123 0.16853 0.002 0.1498 0.1628 0.4191 0.0245 NA 0.11 0.1 0.35 0.0581 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.542881 1.542881 NA 0.002093 0.369042 NA 0.109 NA 6.6044736 992 18 10696534 10696534 C T exonic PIEZO2 NA synonymous SNV PIEZO2:NM_022068:exon42:c.G6492A:p.T2164T exonic ENSG00000154864 NA synonymous SNV ENSG00000154864:ENST00000285141:exon4:c.G57A:p.T19T,ENSG00000154864:ENST00000538948:exon4:c.G363A:p.T121T,ENSG00000154864:ENST00000302079:exon42:c.G6492A:p.T2164T,ENSG00000154864:ENST00000503781:exon42:c.G6492A:p.T2164T,ENSG00000154864:ENST00000580640:exon44:c.G6567A:p.T2189T Score=480;Name=lod=119 NA 18p11.22 NA NA NA NA rs117799245 0.01 0.01 0.011 0.0157748 0.0268 0.001 0.0101 0.0008 0.044 0.02 NA 0.01 0.002 0.0164 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085733 NA NA 0.019186 0.003631 NA 0.014 NA 6.6042806 992 18 11893554 11893554 C G exonic MPPE1 NA synonymous SNV MPPE1:NM_001242904:exon3:c.G303C:p.A101A,MPPE1:NM_023075:exon4:c.G303C:p.A101A exonic ENSG00000154889 NA synonymous SNV ENSG00000154889:ENST00000309976:exon3:c.G303C:p.A101A,ENSG00000154889:ENST00000592331:exon3:c.G81C:p.A27A,ENSG00000154889:ENST00000592977:exon3:c.G303C:p.A101A,ENSG00000154889:ENST00000317235:exon4:c.G303C:p.A101A,ENSG00000154889:ENST00000344987:exon4:c.G303C:p.A101A,ENSG00000154889:ENST00000399978:exon4:c.G303C:p.A101A,ENSG00000154889:ENST00000496196:exon4:c.G303C:p.A101A,ENSG00000154889:ENST00000588072:exon4:c.G303C:p.A101A,ENSG00000154889:ENST00000317251:exon5:c.G12C:p.A4A,ENSG00000154889:ENST00000588186:exon5:c.G303C:p.A101A,ENSG00000154889:ENST00000589267:exon5:c.G303C:p.A101A,ENSG00000154889:ENST00000588191:exon6:c.G303C:p.A101A Score=543;Name=lod=215 NA 18p11.21 NA NA NA NA rs34932177 0.06 0.06 0.064 0.0636981 0.0139 0.0774 0.0274 0.149 0.0112 0.01 0.08 0.04 0.14 0.0313 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.238508 1.238508 NA 0.017209 0.133908 NA 0.029 NA 6.6042576 992 2 73717567 73717567 G T exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon10:c.G8478T:p.R2826S exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon9:c.G8352T:p.R2784S,ENSG00000116127:ENST00000264448:exon10:c.G8478T:p.R2826S NA NA 2p13.1 NA NA NA NA rs2056486 0.33 0.33 0.349 0.358227 0.2266 0.0089 0.3905 0.8578 0.1554 0.23 0.01 0.35 0.85 0.2663 0.85 1 T 0.0 B 0.0 B 0.152 N 1.000 P -1.24 N 3.58 T -1.042 T 0.000 T 0.097 -1.709 0.011 0.258 -0.189 -0.037 6.689 -1.709383 NA 1 0.236784 0.727493 NA 0.42 NA 6.6036494 992 11 64138805 64138805 T C exonic RPS6KA4 NA synonymous SNV RPS6KA4:NM_001006944:exon17:c.T2154C:p.N718N,RPS6KA4:NM_003942:exon17:c.T2172C:p.N724N exonic ENSG00000162302 NA synonymous SNV ENSG00000162302:ENST00000294261:exon13:c.T1428C:p.N476N,ENSG00000162302:ENST00000334205:exon17:c.T2172C:p.N724N,ENSG00000162302:ENST00000528057:exon17:c.T2151C:p.N717N,ENSG00000162302:ENST00000530504:exon17:c.T2106C:p.N702N Score=571;Name=lod=279 NA 11q13.1 Score=894;Name=V$NF1_Q6 NA NA NA rs11542299 0.27 0.27 0.212 0.252995 0.3708 0.2113 0.3833 0.0514 0.3548 0.39 0.22 0.35 0.06 0.3464 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950192 NA NA 0.346054 0.100417 NA 0.217 NA 6.6034126 992 19 21240722 21240722 T C exonic ZNF430 NA synonymous SNV ZNF430:NM_001172671:exon5:c.T1605C:p.T535T,ZNF430:NM_025189:exon5:c.T1608C:p.T536T exonic ENSG00000118620 NA synonymous SNV ENSG00000118620:ENST00000261560:exon5:c.T1608C:p.T536T Score=409;Name=lod=61 NA 19p12 NA NA NA NA rs61744905 0.06 0.06 0.066 0.0702875 0.0209 NA 0.0202 0.2315 0.0112 0.02 NA 0.02 0.2 0.0261 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266671 NA NA 0.016283 0.175897 NA 0.08 NA 6.6033836 992 21 31802768 31802768 G A exonic KRTAP13-4 NA nonsynonymous SNV KRTAP13-4:NM_181600:exon1:c.G175A:p.A59T exonic ENSG00000186971 NA nonsynonymous SNV ENSG00000186971:ENST00000334068:exon1:c.G175A:p.A59T NA NA 21q22.11 NA NA NA NA rs2226548 0.52 0.52 0.551 0.551118 0.5736 0.2758 0.6427 0.6452 0.6196 0.55 0.29 0.65 0.66 0.5697 0.66 1 T 0.001 B 0.001 B 0.477 N 1.000 P -2.365 N 4.27 T -0.909 T 0.000 T 0.022 -1.773 0.01 -2.5 -0.445 -0.656 0.640 -1.772617 NA 1 0.58686 0.635724 NA 0.645 NA 6.6031734 992 20 48574454 48574454 G A intergenic RNF114,SNAI1 dist=4032;dist=25059 NA NA ncRNA_exonic ENSG00000229222 NA NA NA Score=437;Name=lod=80 NA 20q13.13 NA Name=CTCF Name=11 NA rs6067284 0.33 0.33 0.274 0.358227 0.3976 0.3413 0.4625 0.0983 0.6125 0.41 0.35 0.43 0.11 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.209146 2.209146 NA NA NA NA 0.268 NA 6.6024 992 4 189067987 189067987 C T exonic TRIML1 NA synonymous SNV TRIML1:NM_178556:exon6:c.C868T:p.L290L exonic ENSG00000184108 NA synonymous SNV ENSG00000184108:ENST00000332517:exon6:c.C868T:p.L290L Score=399;Name=lod=56 NA 4q35.2 NA NA NA NA rs77324985 0.02 0.02 0.018 0.0229633 0.0179 NA 0.0101 0.0499 0.0245 0.02 NA 0.01 0.05 0.0228 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521483 NA NA 0.023721 0.042669 NA 0.014 NA 6.6022456 992 11 56508476 56508476 T C intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA Score=295;Name=lod=21 NA 11q12.1 Score=922;Name=V$TATA_C Name=MafK_(ab50322) NA NA rs11228758 0.3 0.3 0.237 0.321286 0.2048 0.6052 0.4755 0.0189 0.4479 0.2 0.59 0.44 0.03 0.3289 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222183 NA NA 0.197989 0.04552 NA 0.261 NA 6.6016443 992 20 3214895 3214895 C T exonic SLC4A11 NA synonymous SNV SLC4A11:NM_032034:exon4:c.G405A:p.A135A,SLC4A11:NM_001174089:exon5:c.G357A:p.A119A,SLC4A11:NM_001174090:exon5:c.G486A:p.A162A exonic ENSG00000088836 NA synonymous SNV ENSG00000088836:ENST00000380056:exon4:c.G405A:p.A135A,ENSG00000088836:ENST00000380059:exon5:c.G486A:p.A162A,ENSG00000088836:ENST00000437836:exon5:c.G357A:p.A119A,ENSG00000088836:ENST00000539553:exon5:c.G357A:p.A119A Score=535;Name=lod=200 NA 20p13 NA NA NA NA rs34460295 0.02 0.02 0.026 0.0233626 0.0249 0.0198 0.0086 0.0333 0.0225 0.03 0.02 0.01 0.03 0.0202 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.509826 1.509826 NA 0.020233 0.04108 NA 0.007 NA 6.6013336 992 2 27803279 27803279 C T exonic C2orf16 NA synonymous SNV C2orf16:NM_032266:exon1:c.C3840T:p.T1280T exonic ENSG00000221843 NA synonymous SNV ENSG00000221843:ENST00000408964:exon1:c.C3840T:p.T1280T NA NA 2p23.3 NA NA Name=2 NA rs145678525 0.01 0.01 0.008 0.0113818 0.0209 0.002 0.0029 0.003 0.0286 0.02 0.0017 0.01 0.0041 0.0214 0.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089555 NA NA 0.023128 0.004921 NA 0.014 NA 6.6012386 992 1 12921332 12921332 T C exonic PRAMEF2 NA nonsynonymous SNV PRAMEF2:NM_023014:exon4:c.T1123C:p.C375R exonic ENSG00000120952 NA nonsynonymous SNV ENSG00000120952:ENST00000240189:exon4:c.T1123C:p.C375R NA NA 1p36.21 NA NA NA NA rs1063796 NA NA 0.187 0.409944 0.3449 0.4385 0.3473 0.4728 0.407 NA NA NA NA 0.3877 NA 1 T 0.0 B 0.001 B 0.433 N 0.887 N -1.355 N 3.03 T -0.934 T 0.006 T 0.164 -2.28 0.004 0.824 -0.055 -0.464 3.343 -2.280337 NA 1 NA NA ID=COSM1626370;OCCURENCE=1(liver) NA NA 6.6007334 992 4 99393736 99393736 T A exonic TSPAN5 NA synonymous SNV TSPAN5:NM_005723:exon8:c.A744T:p.I248I exonic ENSG00000168785 NA synonymous SNV ENSG00000168785:ENST00000305798:exon8:c.A744T:p.I248I,ENSG00000168785:ENST00000505184:exon8:c.A531T:p.I177I Score=468;Name=lod=106 NA 4q23 NA NA NA NA rs1128512 0.1 0.1 0.104 0.115216 0.0089 NA 0.0432 0.3812 0.0348 0.01 NA 0.04 0.39 0.0438 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.834882 1.834882 NA 0.013605 0.314117 NA 0.072 NA 6.6003616 992 5 57755703 57755703 C T exonic PLK2 NA synonymous SNV PLK2:NM_001252226:exon1:c.G84A:p.A28A,PLK2:NM_006622:exon1:c.G84A:p.A28A exonic ENSG00000145632 NA synonymous SNV ENSG00000145632:ENST00000274289:exon1:c.G84A:p.A28A Score=607;Name=lod=392 NA 5q11.2 NA Name=Pol2,Pol2(b) NA NA rs3211270 0.39 0.39 0.368 0.390974 0.3479 0.5089 0.4467 0.2572 0.455 0.34 0.55 0.41 0.26 0.3825 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943489 NA NA 0.336012 0.271902 NA 0.333 NA 6.6002546 992 8 13356807 13356807 C T exonic DLC1 NA synonymous SNV DLC1:NM_024767:exon2:c.G774A:p.L258L,DLC1:NM_182643:exon2:c.G774A:p.L258L exonic ENSG00000164741 NA synonymous SNV ENSG00000164741:ENST00000276297:exon2:c.G774A:p.L258L,ENSG00000164741:ENST00000316609:exon2:c.G774A:p.L258L,ENSG00000164741:ENST00000511869:exon2:c.G774A:p.L258L NA NA 8p22 NA NA Name=13 NA rs62637614 0.03 0.03 0.025 0.0283546 0.0239 NA 0.0331 0.0507 0.0286 0.02 NA 0.05 0.06 0.0222 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772819 NA NA 0.020814 0.053109 NA 0.043 NA 6.5997526 992 11 20483650 20483650 T C exonic PRMT3 NA synonymous SNV PRMT3:NM_001145166:exon10:c.T1011C:p.I337I,PRMT3:NM_001145167:exon11:c.T966C:p.I322I,PRMT3:NM_005788:exon12:c.T1197C:p.I399I exonic ENSG00000185238 NA synonymous SNV ENSG00000185238:ENST00000437750:exon10:c.T1011C:p.I337I,ENSG00000185238:ENST00000331079:exon12:c.T1197C:p.I399I Score=643;Name=lod=547 NA 11p15.1 NA NA NA NA rs34565672 0.01 0.01 0.01 0.0141773 0.0189 NA 0.0202 0.0023 0.0358 0.02 NA 0.01 0.01 0.0206 0.028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.267241 1.267241 NA 0.027791 0.005901 NA 0.007 NA 6.5993756 992 2 98427633 98427633 C T exonic TMEM131 NA synonymous SNV TMEM131:NM_015348:exon18:c.G1926A:p.E642E exonic ENSG00000075568 NA synonymous SNV ENSG00000075568:ENST00000186436:exon18:c.G1926A:p.E642E Score=649;Name=lod=579 NA 2q11.2 NA NA NA NA rs61729688 0.02 0.02 0.015 0.0269569 0.0239 NA 0.0288 0.0681 0.001 0.02 NA 0.03 0.05 0.0202 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8737 NA NA 0.023438 0.0488 NA 0.014 NA 6.5991286 992 11 6588256 6588256 G A exonic DNHD1 NA synonymous SNV DNHD1:NM_144666:exon36:c.G11517A:p.Q3839Q exonic ENSG00000179532 NA synonymous SNV ENSG00000179532:ENST00000525080:exon2:c.G261A:p.Q87Q,ENSG00000179532:ENST00000527990:exon34:c.G11517A:p.Q3839Q,ENSG00000179532:ENST00000254579:exon36:c.G11517A:p.Q3839Q NA NA 11p15.4 NA NA Name=4 NA rs12418976 0.06 0.06 0.056 0.0638978 0.0209 NA 0.036 0.205 0.0031 0.01 NA 0.03 0.21 0.0292 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.620565 NA NA 0.018114 0.148984 NA 0.065 NA 6.5984526 992 19 10600418 10600418 G A exonic KEAP1 NA synonymous SNV KEAP1:NM_012289:exon4:c.C1437T:p.D479D,KEAP1:NM_203500:exon4:c.C1437T:p.D479D exonic ENSG00000079999 NA synonymous SNV ENSG00000079999:ENST00000171111:exon4:c.C1437T:p.D479D,ENSG00000079999:ENST00000393623:exon4:c.C1437T:p.D479D Score=450;Name=lod=90 NA 19p13.2 NA NA NA NA rs35074907 0.01 0.01 0.012 0.00958466 0.0258 NA 0.0101 NA 0.0153 0.03 NA 0.02 NA 0.0187 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68833 NA NA 0.023721 0.003177 NA 0.007 NA 6.5984456 992 9 26998090 26998090 C T exonic LRRC19 NA synonymous SNV LRRC19:NM_022901:exon3:c.G231A:p.E77E exonic ENSG00000184434 NA synonymous SNV ENSG00000184434:ENST00000380055:exon3:c.G231A:p.E77E Score=349;Name=lod=35 NA 9p21.2 NA NA NA NA rs35776880 0.01 0.01 0.009 0.00858626 0.0268 NA 0.0144 0.0008 0.0051 0.02 NA 0.01 NA 0.0177 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047622 NA NA 0.023965 0.006355 NA 0.014 NA 6.5982016 992 2 73651967 73651967 C T exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon5:c.C1174T:p.R392C exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon4:c.C1048T:p.R350C,ENSG00000116127:ENST00000264448:exon5:c.C1174T:p.R392C,ENSG00000116127:ENST00000377715:exon5:c.C1174T:p.R392C NA NA 2p13.1 NA NA NA NA rs3813227 0.34 0.34 0.365 0.363618 0.2266 0.0089 0.3919 0.8782 0.1544 0.23 0.01 0.35 0.87 0.2712 0.87 1 T 0.0 B 0.0 B 0.266 N 1.000 P -1.1 N 3.26 T -1.005 T 0.000 T 0.18 -1.057 0.187 0.185 -0.200 0.260 1.773 -1.056607 NA 0.18 0.237476 0.737261 NA 0.435 NA 6.5980574 992 3 9991163 9991163 A G exonic PRRT3 NA nonsynonymous SNV PRRT3:NM_207351:exon2:c.T637C:p.S213P exonic ENSG00000163704 NA nonsynonymous SNV ENSG00000163704:ENST00000295984:exon2:c.T637C:p.S213P,ENSG00000163704:ENST00000411976:exon2:c.T637C:p.S213P,ENSG00000163704:ENST00000412055:exon2:c.T637C:p.S213P NA NA 3p25.3 NA NA NA NA rs55847610 0.37 0.37 0.383 0.381989 0.2147 0.1558 0.3271 0.8139 0.2423 0.22 0.21 0.34 0.81 0.2776 0.81 . . 0.0 B 0.0 B 0.139 N 1.000 P -1.04 N 2.79 T -1.072 T 0.000 T 0.076 -2.631 0 0.544 -0.124 0.079 3.537 -2.631277 NA 1 0.243447 0.67189 ID=COSM149329;OCCURENCE=1(stomach) 0.565 NA 6.5975864 992 9 117552885 117552885 T C exonic TNFSF15 NA synonymous SNV TNFSF15:NM_001204344:exon2:c.A426G:p.V142V,TNFSF15:NM_005118:exon4:c.A603G:p.V201V exonic ENSG00000181634 NA synonymous SNV ENSG00000181634:ENST00000374044:exon1:c.A372G:p.V124V,ENSG00000181634:ENST00000374045:exon4:c.A603G:p.V201V Score=528;Name=lod=186 Name=Crohn's disease 9q32 NA NA Name=30 NA rs3810936 0.69 0.69 0.692 0.711062 0.675 0.5069 0.6988 0.913 0.6943 0.68 0.52 0.72 0.89 0.7085 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463953 NA NA 0.68593 0.883114 NA 0.71 NA 6.5972366 992 16 787267 787267 G A exonic NARFL NA synonymous SNV NARFL:NM_022493:exon3:c.C225T:p.S75S exonic ENSG00000103245 NA synonymous SNV ENSG00000103245:ENST00000251588:exon3:c.C225T:p.S75S,ENSG00000103245:ENST00000301694:exon3:c.C225T:p.S75S,ENSG00000103245:ENST00000565425:exon3:c.C225T:p.S75S Score=423;Name=lod=70 NA 16p13.3 NA NA NA NA rs35987447 0.01 0.01 0.005 0.00838658 0.0239 0.001 0.0086 0.003 0.0072 0.02 0.0017 0.01 0.002 0.0179 0.028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44481 NA NA 0.027674 0.005909 NA NA NA 6.5971926 992 16 4797457 4797457 C T exonic C16orf71 NA nonsynonymous SNV C16orf71:NM_139170:exon9:c.C1394T:p.P465L exonic ENSG00000166246 NA nonsynonymous SNV ENSG00000166246:ENST00000299320:exon9:c.C1394T:p.P465L,ENSG00000166246:ENST00000590191:exon9:c.C1445T:p.P482L NA NA 16p13.3 NA NA Name=32 NA rs17853375 0.49 0.49 0.461 0.427915 0.5994 0.6528 0.5086 0.0582 0.4622 0.6 0.69 0.52 0.07 0.5413 0.69 0.08 T 0.011 B 0.006 B 0.237 N 1.000 P 1.59 L 1.4 T -0.904 T 0.000 T 0.031 2.088 12.94 0.549 -0.045 -0.107 4.332 2.087887 2.087887 0.16 0.595648 0.141458 NA 0.384 NA 6.5969854 992 6 17688798 17688798 G A exonic NUP153 NA synonymous SNV NUP153:NM_005124:exon2:c.C163T:p.L55L exonic ENSG00000124789 NA synonymous SNV ENSG00000124789:ENST00000262077:exon2:c.C163T:p.L55L,ENSG00000124789:ENST00000537253:exon2:c.C163T:p.L55L Score=550;Name=lod=230 NA 6p22.3 NA NA Name=19 NA rs1065057 0.27 0.27 0.248 0.271965 0.4006 0.2431 0.3184 0.0431 0.4458 0.39 0.26 0.37 0.06 0.3154 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301242 1.301242 NA 0.353953 0.092601 NA 0.232 NA 6.5967136 992 2 127956991 127956991 G A exonic CYP27C1 NA synonymous SNV CYP27C1:NM_001001665:exon4:c.C513T:p.Y171Y exonic ENSG00000186684 NA synonymous SNV ENSG00000186684:ENST00000335247:exon4:c.C513T:p.Y171Y,ENSG00000186684:ENST00000409327:exon4:c.C513T:p.Y171Y Score=452;Name=lod=92 NA 2q14.3 NA NA NA NA rs34225806 0.01 0.01 0.016 0.0091853 0.0298 NA 0.0202 0.0015 NA 0.03 NA 0.02 0.0041 0.0159 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988945 NA NA 0.024302 0.005674 NA 0.014 NA 6.5966646 992 21 47831522 47831522 G A exonic PCNT NA synonymous SNV PCNT:NM_006031:exon28:c.G5535A:p.R1845R exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon28:c.G5535A:p.R1845R Score=278;Name=lod=18 NA 21q22.3 NA NA NA NA rs61735543 0.07 0.07 0.071 0.0856629 0.0229 0.003 0.036 0.2224 0.0859 0.02 0.0017 0.04 0.24 0.036 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059762 NA NA 0.011517 0.170527 NA 0.087 NA 6.5962496 992 2 207041441 207041441 G A exonic GPR1 NA synonymous SNV GPR1:NM_001098199:exon3:c.C531T:p.D177D,GPR1:NM_001261454:exon3:c.C531T:p.D177D,GPR1:NM_001261455:exon3:c.C531T:p.D177D,GPR1:NM_005279:exon3:c.C531T:p.D177D,GPR1:NM_001261452:exon4:c.C531T:p.D177D,GPR1:NM_001261453:exon4:c.C531T:p.D177D exonic ENSG00000183671 NA synonymous SNV ENSG00000183671:ENST00000407325:exon3:c.C531T:p.D177D,ENSG00000183671:ENST00000442134:exon3:c.C531T:p.D177D,ENSG00000183671:ENST00000451790:exon3:c.C531T:p.D177D,ENSG00000183671:ENST00000437420:exon4:c.C531T:p.D177D Score=419;Name=lod=67 NA 2q33.3 Score=903;Name=V$STAT_01 NA NA NA rs3732082 0.36 0.36 0.356 0.345248 0.3738 0.2569 0.3112 0.4531 0.2853 0.38 0.25 0.36 0.45 0.3501 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47952 NA NA 0.34686 0.444621 NA 0.319 NA 6.5959066 993 14 88431898 88431898 C T exonic GALC NA synonymous SNV GALC:NM_001201401:exon8:c.G915A:p.Q305Q,GALC:NM_000153:exon9:c.G984A:p.Q328Q,GALC:NM_001201402:exon9:c.G906A:p.Q302Q exonic ENSG00000054983 NA synonymous SNV ENSG00000054983:ENST00000555000:exon4:c.G351A:p.Q117Q,ENSG00000054983:ENST00000393568:exon8:c.G915A:p.Q305Q,ENSG00000054983:ENST00000261304:exon9:c.G984A:p.Q328Q,ENSG00000054983:ENST00000393569:exon9:c.G906A:p.Q302Q,ENSG00000054983:ENST00000544807:exon9:c.G816A:p.Q272Q Score=419;Name=lod=67 NA 14q31.3 NA NA NA NA rs12888666 0.35 0.35 0.321 0.33107 0.3429 0.5327 0.4236 0.0794 0.3855 0.34 0.54 0.43 0.1 0.3813 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.106267 NA NA 0.348152 0.118912 NA 0.413 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078210.1;CLNDSDB=.;CLNDSDBID=. 6.5943146 993 1 68624878 68624878 C T exonic WLS NA synonymous SNV WLS:NM_001193334:exon2:c.G159A:p.A53A,WLS:NM_001002292:exon3:c.G426A:p.A142A,WLS:NM_024911:exon3:c.G432A:p.A144A exonic ENSG00000116729 NA synonymous SNV ENSG00000116729:ENST00000370976:exon2:c.G159A:p.A53A,ENSG00000116729:ENST00000533537:exon2:c.G33A:p.A11A,ENSG00000116729:ENST00000262348:exon3:c.G432A:p.A144A,ENSG00000116729:ENST00000354777:exon3:c.G426A:p.A142A,ENSG00000116729:ENST00000370973:exon3:c.G33A:p.A11A,ENSG00000116729:ENST00000471243:exon3:c.G297A:p.A99A,ENSG00000116729:ENST00000530486:exon3:c.G297A:p.A99A,ENSG00000116729:ENST00000540432:exon3:c.G432A:p.A144A NA NA 1p31.3 NA Name=MafK_(ab50322) NA NA rs3748705 0.37 0.37 0.332 0.349641 0.3648 0.4127 0.4524 0.2368 0.3487 0.36 0.42 0.48 0.27 0.3638 0.48 . . . . . . . . 1.000 P . . . . -1.069 T 0.075 T . -1.027 0.224 1.98 -0.074 0.049 8.385 -1.02659 NA NA 0.344302 0.252837 NA 0.29 NA 6.5937646 993 6 132966207 132966207 T C exonic TAAR1 NA synonymous SNV TAAR1:NM_138327:exon1:c.A936G:p.R312R exonic ENSG00000146399 NA synonymous SNV ENSG00000146399:ENST00000275216:exon1:c.A936G:p.R312R Score=463;Name=lod=102 NA 6q23.2 NA NA NA NA rs8192621 0.05 0.05 0.036 0.0461262 0.0219 0.1131 0.0432 0.0083 0.0552 0.02 0.13 0.05 0.01 0.0318 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687499 NA NA 0.019316 0.00522 NA 0.036 NA 6.5936506 993 14 74759301 74759301 G T exonic ABCD4 NA synonymous SNV ABCD4:NM_005050:exon10:c.C981A:p.L327L exonic ENSG00000119688 NA synonymous SNV ENSG00000119688:ENST00000298816:exon8:c.C669A:p.L223L,ENSG00000119688:ENST00000356924:exon10:c.C981A:p.L327L Score=610;Name=lod=401 NA 14q24.3 Score=844;Name=V$MEIS1AHOXA9_01 NA NA NA rs4148078 0.26 0.26 0.279 0.262979 0.3857 0.247 0.2695 0.121 0.3405 0.37 0.24 0.29 0.11 0.3243 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088192 NA NA 0.363605 0.173627 NA 0.275 NA 6.5930616 993 17 46134798 46134798 C T exonic NFE2L1 NA synonymous SNV NFE2L1:NM_003204:exon5:c.C906T:p.T302T exonic ENSG00000082641 NA synonymous SNV ENSG00000082641:ENST00000536222:exon3:c.C438T:p.T146T,ENSG00000082641:ENST00000577431:exon3:c.C405T:p.T135T,ENSG00000082641:ENST00000582155:exon3:c.C342T:p.T114T,ENSG00000082641:ENST00000583378:exon3:c.C309T:p.T103T,ENSG00000082641:ENST00000357480:exon4:c.C816T:p.T272T,ENSG00000082641:ENST00000361665:exon5:c.C873T:p.T291T,ENSG00000082641:ENST00000362042:exon5:c.C906T:p.T302T,ENSG00000082641:ENST00000585291:exon5:c.C816T:p.T272T Score=478;Name=lod=117 NA 17q21.32 NA NA NA NA rs2229368 0.02 0.02 0.021 0.0175719 0.0249 0.001 0.0187 0.0295 0.0102 0.02 0.0017 0.02 0.03 0.02 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022203 NA NA 0.028837 0.041534 NA 0.022 NA 6.5929296 993 18 56204644 56204644 T G exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.A2775C:p.V925V exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.A2775C:p.V925V NA NA 18q21.32 NA Name=Pol2-4H8 Name=3 NA rs12963422 0.33 0.33 0.283 0.33746 0.3221 0.5734 0.3184 0.0696 0.4857 0.3 0.59 0.28 0.09 0.3815 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599624 NA NA 0.370581 0.125057 NA 0.196 NA 6.5924856 993 11 18231289 18231289 C A ncRNA_exonic LOC494141 NA NA NA exonic ENSG00000189332 NA nonsynonymous SNV ENSG00000189332:ENST00000527059:exon1:c.C75A:p.F25L,ENSG00000189332:ENST00000340135:exon2:c.C75A:p.F25L,ENSG00000189332:ENST00000534640:exon2:c.C75A:p.F25L NA NA 11p15.1 NA NA NA NA rs4757627 0.27 0.27 0.241 0.259984 0.4881 0.0456 0.304 0.1762 0.3282 0.49 0.02 0.32 0.18 0.4195 0.49 0.67 T . . . . 0.530 N . . . . -0.6 T -0.995 T 0.000 T 0.131 0.941 8.834 0.742 0.654 2.541 7.271 0.940531 NA 0.1 NA NA ID=COSM1507438;OCCURENCE=1(lung) 0.283 NA 6.5924 993 3 195395515 195395515 A C ncRNA_intronic SDHAP2 NA NA NA ncRNA_intronic ENSG00000215837,ENSG00000242086 NA NA NA Score=633;Name=lod=498 NA 3q29 Score=897;Name=V$AREB6_01 NA NA NA rs202131384 NA NA 0.025 NA NA NA NA NA NA NA NA NA NA 0.0744 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252739 NA NA NA NA NA NA NA 6.5922666 993 16 25268368 25268368 A G exonic ZKSCAN2 NA synonymous SNV ZKSCAN2:NM_001012981:exon1:c.T81C:p.P27P exonic ENSG00000155592 NA synonymous SNV ENSG00000155592:ENST00000328086:exon1:c.T81C:p.P27P,ENSG00000155592:ENST00000569150:exon1:c.T81C:p.P27P NA NA 16p12.1 NA Name=YY1,Sin3Ak-20,CTCF Name=20 NA rs4787310 0.44 0.44 0.42 0.461062 0.338 0.4722 0.4481 0.6346 0.3507 0.33 0.45 0.43 0.61 0.3829 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.877983 1.877983 NA 0.35407 0.590806 ID=COSM148057;OCCURENCE=1(stomach) 0.457 NA 6.5916966 993 1 1226690 1226690 C T exonic SCNN1D NA synonymous SNV SCNN1D:NM_001130413:exon18:c.C2109T:p.S703S exonic ENSG00000162572 NA synonymous SNV ENSG00000162572:ENST00000400928:exon14:c.C1617T:p.S539S,ENSG00000162572:ENST00000325425:exon15:c.C1815T:p.S605S,ENSG00000162572:ENST00000338555:exon15:c.C1617T:p.S539S,ENSG00000162572:ENST00000379116:exon18:c.C2109T:p.S703S NA NA 1p36.33 NA NA Name=18 NA rs114720027 0.01 0.01 0.011 0.00738818 0.0159 NA 0.0043 NA 0.0184 0.02 NA 0.01 NA 0.032 0.027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658246 NA NA 0.027217 0.004462 NA 0.007 NA 6.5915496 993 19 49230379 49230379 A G exonic RASIP1 NA synonymous SNV RASIP1:NM_017805:exon7:c.T1908C:p.P636P exonic ENSG00000105538 NA synonymous SNV ENSG00000105538:ENST00000222145:exon7:c.T1908C:p.P636P NA NA 19q13.33 Score=820;Name=V$ARP1_01 NA NA NA rs640794 0.1 0.1 0.103 0.131589 0.0119 NA 0.0461 0.4266 0.0521 0.01 NA 0.06 0.4 0.0496 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.273281 1.273281 NA 0.01407 0.364276 NA 0.138 NA 6.5910966 993 12 19282670 19282670 C T UTR5 PLEKHA5 NM_001256470:c.-64C>T,NM_001143821:c.-64C>T,NM_001190860:c.-64C>T,NM_019012:c.-64C>T NA NA UTR5 ENSG00000052126 ENST00000309364:c.-64C>T,ENST00000359180:c.-64C>T,ENST00000355397:c.-64C>T,ENST00000317589:c.-64C>T NA NA Score=399;Name=lod=56 NA 12p12.3 NA Name=CCNT2,HEY1,Pol2-4H8,YY1_(C-20),Pol2,TAF1 Name=132 NA rs28512290 0.54 0.54 0.558 0.432508 0.7425 0.3522 0.5447 0.1452 0.5051 0.75 0.52 0.6 0.2 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.780228 1.780228 NA NA NA NA NA NA 6.5908334 993 11 71548520 71548520 A T exonic DEFB108B NA nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.A134T:p.H45L exonic ENSG00000184276 NA nonsynonymous SNV ENSG00000184276:ENST00000328698:exon2:c.A134T:p.H45L NA NA 11q13.4 NA NA NA NA rs12285495 0.47 0.47 0.422 0.450479 0.5984 0.3631 0.3732 0.3427 0.589 0.61 0.37 0.44 0.39 0.5372 0.61 0.01 D 0.001 B 0.001 B 0.628 N 1.000 P . . 2.85 T -0.987 T 0.000 T 0.122 1.47 10.86 0.238 0.055 0.195 3.446 1.470492 1.470492 0.02 0.607151 0.382273 NA 0.116 NA 6.5905824 993 13 101720300 101720300 T G exonic NALCN NA synonymous SNV NALCN:NM_052867:exon39:c.A4416C:p.I1472I exonic ENSG00000102452 NA synonymous SNV ENSG00000102452:ENST00000251127:exon39:c.A4416C:p.I1472I Score=605;Name=lod=383 NA 13q33.1 NA NA NA Score=194;Name=672288_1_-_194 rs1289556 0.37 0.37 0.392 0.402955 0.3608 0.1171 0.2752 0.7519 0.3599 0.36 0.14 0.29 0.73 0.3529 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.955426 NA NA 0.362558 0.716977 NA 0.442 NA 6.5904086 993 21 47695220 47695220 A G exonic MCM3AP NA synonymous SNV MCM3AP:NM_003906:exon6:c.T1878C:p.D626D exonic ENSG00000160294 NA synonymous SNV ENSG00000160294:ENST00000291688:exon6:c.T1878C:p.D626D,ENSG00000160294:ENST00000397708:exon7:c.T1878C:p.D626D Score=433;Name=lod=77 NA 21q22.3 NA NA NA NA rs2839190 0.11 0.11 0.114 0.139776 0.0129 0.004 0.0591 0.4251 0.0818 0.01 0.0035 0.06 0.41 0.0505 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886381 NA NA 0.013256 0.358829 NA 0.123 NA 6.5900106 993 16 767096 767096 C G exonic METRN NA synonymous SNV METRN:NM_024042:exon4:c.C591G:p.V197V exonic ENSG00000103260 NA synonymous SNV ENSG00000103260:ENST00000568415:exon3:c.C192G:p.V64V,ENSG00000103260:ENST00000568223:exon4:c.C591G:p.V197V NA NA 16p13.3 NA Name=Pol2 NA NA rs11553170 0.01 0.01 0.006 0.00898562 0.0258 0.001 0.0086 0.003 0.0082 0.02 0.0017 0.01 0.002 0.0206 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194446 NA NA 0.030631 0.006834 NA NA NA 6.5896356 993 10 124742792 124742792 G A exonic PSTK NA synonymous SNV PSTK:NM_153336:exon3:c.G513A:p.S171S exonic ENSG00000179988 NA synonymous SNV ENSG00000179988:ENST00000368887:exon3:c.G513A:p.S171S,ENSG00000179988:ENST00000405485:exon3:c.G513A:p.S171S NA NA 10q26.13 NA NA NA NA rs3736583 0.59 0.59 0.603 0.581669 0.7296 0.3919 0.5576 0.6589 0.5378 0.73 0.38 0.59 0.63 0.637 0.73 . . . . . . . . 0.000 P . . . . -1.091 T 0.000 T . 0.476 6.582 -11.7 -2.588 -2.635 15.095 0.475645 NA NA 0.71093 0.644803 ID=COSM147076;OCCURENCE=1(stomach) 0.601 NA 6.5891366 993 3 14199887 14199887 G A exonic XPC NA nonsynonymous SNV XPC:NM_001145769:exon9:c.C1385T:p.A462V,XPC:NM_004628:exon9:c.C1496T:p.A499V exonic ENSG00000154767 NA nonsynonymous SNV ENSG00000154767:ENST00000285021:exon9:c.C1496T:p.A499V,ENSG00000154767:ENST00000449060:exon9:c.C1385T:p.A462V NA NA 3p25.1 NA NA NA NA rs2228000 0.25 0.25 0.223 0.233027 0.2584 0.4127 0.245 0.093 0.2025 0.26 0.37 0.26 0.08 0.2378 0.37 0.27 T 0.081 B 0.027 B 0.528 N 1.000 P 0.69 N 1.26 T -0.924 T 0.000 T 0.201 0.991 9.045 -1.03 -0.927 . 4.613 0.990686 NA 0.18 0.248185 0.091837 NA 0.21 NA 6.5889484 993 16 1820992 1820992 T A exonic NME3 NA synonymous SNV NME3:NM_002513:exon4:c.A282T:p.V94V exonic ENSG00000103024 NA nonsynonymous SNV ENSG00000103024:ENST00000564628:exon4:c.A254T:p.Y85F Score=474;Name=lod=113 NA 16p13.3 NA Name=Pol2-4H8,NFKB,HMGN3,Pol2 Name=121 NA rs11890 0.76 0.76 0.768 0.763578 0.7903 0.6369 0.8761 0.848 0.6728 0.79 0.61 0.86 0.8 0.7912 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791321 NA NA 0.829886 0.858706 NA 0.652 NA 6.588614 993 20 854940 854940 T C exonic ANGPT4 NA synonymous SNV ANGPT4:NM_015985:exon8:c.A1338G:p.Q446Q exonic ENSG00000101280 NA synonymous SNV ENSG00000101280:ENST00000381922:exon8:c.A1338G:p.Q446Q Score=493;Name=lod=135 NA 20p13 Score=777;Name=V$HEN1_01 NA NA NA rs944110 0.49 0.49 0.472 0.512979 0.3191 0.6905 0.4337 0.5227 0.5726 0.33 0.7 0.43 0.54 0.4242 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585379 NA NA 0.334767 0.500454 ID=COSM1178466;OCCURENCE=1(prostate),1(large_intestine) 0.587 NA 6.5885996 993 16 11001821 11001821 C T exonic CIITA NA synonymous SNV CIITA:NM_000246:exon11:c.C2472T:p.H824H exonic ENSG00000179583 NA synonymous SNV ENSG00000179583:ENST00000324288:exon11:c.C2472T:p.H824H Score=329;Name=lod=29 NA 16p13.13 NA NA NA NA rs45621432 0.01 0.01 0.005 0.00778754 0.0328 NA 0.0058 NA 0.002 0.04 NA 0.01 NA 0.0218 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69945 NA NA 0.023726 0.004781 NA 0.007 NA 6.5883406 993 6 4892081 4892081 C T exonic CDYL NA synonymous SNV CDYL:NM_004824:exon2:c.C159T:p.H53H exonic ENSG00000153046 NA synonymous SNV ENSG00000153046:ENST00000397588:exon2:c.C159T:p.H53H,ENSG00000153046:ENST00000328908:exon4:c.C321T:p.H107H Score=466;Name=lod=104 NA 6p25.1 NA NA NA NA rs61749071 0.01 0.01 0.012 0.00738818 0.0268 NA 0.0086 0.0023 0.001 0.03 NA 0.01 0.002 0.0208 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18215 NA NA 0.030814 0.006582 NA 0.014 NA 6.5882526 993 6 30892322 30892322 C T exonic VARS2 NA synonymous SNV VARS2:NM_001167733:exon25:c.C2238T:p.P746P,VARS2:NM_001167734:exon26:c.C2748T:p.P916P,VARS2:NM_020442:exon26:c.C2658T:p.P886P exonic ENSG00000137411 NA synonymous SNV ENSG00000137411:ENST00000321897:exon25:c.C2658T:p.P886P,ENSG00000137411:ENST00000542001:exon25:c.C2238T:p.P746P,ENSG00000137411:ENST00000416670:exon26:c.C2658T:p.P886P,ENSG00000137411:ENST00000541562:exon26:c.C2748T:p.P916P Score=457;Name=lod=96 NA 6p21.33 Score=873;Name=V$MZF1_02 NA NA NA rs2532942 0.24 0.24 0.244 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3446 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176735 NA NA 0.378279 0.146746 NA 0.275 NA 6.5878876 993 4 109769942 109769942 T C exonic COL25A1 NA synonymous SNV COL25A1:NM_001256074:exon23:c.A1326G:p.P442P,COL25A1:NM_032518:exon26:c.A1407G:p.P469P,COL25A1:NM_198721:exon26:c.A1407G:p.P469P exonic ENSG00000188517 NA synonymous SNV ENSG00000188517:ENST00000399127:exon24:c.A1326G:p.P442P,ENSG00000188517:ENST00000494183:exon24:c.A1191G:p.P397P,ENSG00000188517:ENST00000399126:exon27:c.A1407G:p.P469P,ENSG00000188517:ENST00000399132:exon27:c.A1407G:p.P469P Score=482;Name=lod=121 NA 4q25 NA NA NA NA rs112032233 0.01 0.01 0.009 0.00938498 0.0308 NA NA 0.0023 0.0133 0.03 NA 0.0028 0.002 0.0186 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539181 NA NA 0.03024 0.00518 ID=COSM328152;OCCURENCE=1(pancreas) NA NA 6.5870266 993 17 37417575 37417575 C G UTR3 FBXL20 NM_001184906:c.*138G>C,NM_032875:c.*138G>C NA NA UTR3 ENSG00000108306 ENST00000264658:c.*138G>C,ENST00000394294:c.*138G>C NA NA Score=403;Name=lod=58 NA 17q12 Score=835;Name=V$HAND1E47_01 Name=CTCF NA NA rs3744348 0.61 0.61 0.585 0.620407 0.7475 0.7371 0.6542 0.2156 0.8926 0.75 0.75 0.67 0.21 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113404 NA NA NA NA NA 0.543 NA 6.5858334 994 2 198257795 198257795 T C exonic SF3B1 NA synonymous SNV SF3B1:NM_012433:exon24:c.A3657G:p.V1219V exonic ENSG00000115524 NA synonymous SNV ENSG00000115524:ENST00000335508:exon24:c.A3657G:p.V1219V Score=680;Name=lod=772 NA 2q33.1 NA NA NA NA rs4685 0.71 0.71 0.757 0.71845 0.7256 0.5218 0.6311 0.8835 0.7526 0.72 0.6 0.64 0.88 0.6717 0.88 . . . . . . . . 0.000 P . . . . -1.051 T 0.000 T . 0.966 8.941 3.21 0.660 0.206 9.175 0.965705 NA NA 0.685233 0.834998 NA 0.725 NA 6.5841336 994 8 145161823 145161823 G A exonic MAF1 NA nonsynonymous SNV MAF1:NM_032272:exon7:c.G706A:p.G236R exonic ENSG00000179632 NA nonsynonymous SNV ENSG00000179632:ENST00000534811:exon2:c.G160A:p.G54R,ENSG00000179632:ENST00000534585:exon6:c.G796A:p.G266R,ENSG00000179632:ENST00000322428:exon7:c.G706A:p.G236R,ENSG00000179632:ENST00000532522:exon7:c.G706A:p.G236R NA NA 8q24.3 NA NA NA NA rs11546144 0.89 0.89 0.877 0.884385 0.9105 0.999 0.9366 0.6876 0.9683 0.91 1 0.93 0.69 0.9205 1 0.7 T 0.0 B 0.0 B 0.244 N 0.996 P 0.345 N -1.54 D -0.984 T 0.000 T 0.07 0.182 4.978 0.43 -0.072 1.526 6.749 0.181685 NA 0.02 0.918412 0.719845 NA 0.87 NA 6.5839214 994 19 19625547 19625547 A G exonic TSSK6 NA synonymous SNV TSSK6:NM_032037:exon1:c.T690C:p.Y230Y exonic ENSG00000178093 NA synonymous SNV ENSG00000178093:ENST00000360913:exon1:c.T690C:p.Y230Y,ENSG00000178093:ENST00000585580:exon1:c.T690C:p.Y230Y,ENSG00000178093:ENST00000587522:exon1:c.T690C:p.Y230Y,ENSG00000178093:ENST00000602623:exon1:c.T198C:p.Y66Y Score=503;Name=lod=147 NA 19p13.11 NA NA Name=71 NA rs7250893 0.42 0.42 0.409 0.474042 0.325 0.3194 0.4798 0.6573 0.5348 0.32 0.31 0.46 0.66 0.4084 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720488 NA NA 0.349522 0.619145 ID=COSM439019;OCCURENCE=1(breast) 0.152 NA 6.5837446 994 16 57954448 57954448 A G exonic CNGB1 NA synonymous SNV CNGB1:NM_001297:exon19:c.T1644C:p.D548D exonic ENSG00000070729 NA synonymous SNV ENSG00000070729:ENST00000251102:exon19:c.T1644C:p.D548D,ENSG00000070729:ENST00000564448:exon19:c.T1626C:p.D542D NA NA 16q21 Score=771;Name=V$LUN1_01 NA NA NA rs2161703 0.1 0.1 0.119 0.120407 0.0268 NA 0.0403 0.4092 0.0072 0.02 NA 0.04 0.39 0.0412 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540517 NA NA 0.015018 0.338996 NA 0.203 NA 6.5836486 994 9 132637712 132637712 G A exonic USP20 NA synonymous SNV USP20:NM_001008563:exon20:c.G2172A:p.A724A,USP20:NM_001110303:exon20:c.G2172A:p.A724A,USP20:NM_006676:exon20:c.G2172A:p.A724A exonic ENSG00000136878 NA synonymous SNV ENSG00000136878:ENST00000315480:exon20:c.G2172A:p.A724A,ENSG00000136878:ENST00000358355:exon20:c.G2172A:p.A724A,ENSG00000136878:ENST00000372429:exon20:c.G2172A:p.A724A NA NA 9q34.11 NA Name=Rad21,CTCF Name=6 NA rs735115 0.25 0.25 0.235 0.207867 0.4066 0.1885 0.2522 0.0507 0.2045 0.41 0.2 0.28 0.05 0.3127 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80682 NA NA 0.364176 0.094308 NA 0.188 NA 6.5831906 994 2 128177377 128177377 C T intronic PROC NA NA NA UTR5 ENSG00000115718 ENST00000427769:c.-142C>T,ENST00000431364:c.-142C>T NA NA NA Name=Protein C levels 2q14.3 NA Name=Pol2,HEY1 Name=2 NA rs1158867 0.62 0.62 0.544 0.568291 0.5835 0.8194 0.7089 0.2511 0.6227 0.6 0.85 0.69 0.32 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301987 NA NA NA NA NA 0.428 NA 6.5831667 994 19 19606634 19606634 G A exonic GATAD2A NA synonymous SNV GATAD2A:NM_017660:exon6:c.G696A:p.S232S exonic ENSG00000167491 NA synonymous SNV ENSG00000167491:ENST00000429563:exon3:c.G177A:p.S59S,ENSG00000167491:ENST00000252577:exon6:c.G696A:p.S232S,ENSG00000167491:ENST00000358713:exon6:c.G696A:p.S232S,ENSG00000167491:ENST00000360315:exon6:c.G696A:p.S232S,ENSG00000167491:ENST00000404158:exon8:c.G696A:p.S232S Score=352;Name=lod=36 NA 19p13.11 Score=766;Name=V$HEN1_02 NA NA NA rs1047361 0.42 0.42 0.417 0.474241 0.325 0.3194 0.4798 0.6566 0.5368 0.32 0.31 0.46 0.66 0.4064 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491428 1.491428 NA 0.352442 0.620291 NA 0.413 NA 6.5828246 994 19 48525507 48525507 G A exonic ELSPBP1 NA nonsynonymous SNV ELSPBP1:NM_022142:exon6:c.G595A:p.E199K exonic ENSG00000169393 NA nonsynonymous SNV ENSG00000169393:ENST00000593413:exon2:c.G154A:p.E52K,ENSG00000169393:ENST00000597519:exon3:c.G151A:p.E51K,ENSG00000169393:ENST00000339841:exon6:c.G595A:p.E199K NA Name=Intelligence 19q13.33 NA NA NA NA rs2303690 0.69 0.69 0.66 0.685304 0.5696 0.8671 0.719 0.6672 0.6176 0.59 0.87 0.67 0.66 0.6144 0.87 1 T 0.011 B 0.014 B 0.017 N 1.000 P 0.57 N 0.67 T -0.931 T 0.000 T 0.044 -0.539 1.554 1.54 0.108 0.521 3.805 -0.538579 NA 0.47 0.567326 0.612574 ID=COSM1179786;OCCURENCE=1(prostate) 0.536 NA 6.5820074 994 6 158663495 158663495 C T intergenic GTF2H5,TULP4 dist=43119;dist=70197 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=603;Name=lod=377 NA 6q25.3 NA Name=SETDB1,KAP1 Name=98 NA rs3812101 0.37 0.37 0.352 0.330671 0.4185 0.4573 0.4611 0.1044 0.3231 0.43 0.47 0.43 0.13 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696141 NA NA NA NA NA 0.384 NA 6.5815 994 4 10447168 10447168 C G exonic ZNF518B NA nonsynonymous SNV ZNF518B:NM_053042:exon3:c.G785C:p.G262A exonic ENSG00000178163 NA nonsynonymous SNV ENSG00000178163:ENST00000326756:exon3:c.G785C:p.G262A NA NA 4p16.1 NA NA NA NA rs66538112 0.2 0.2 0.183 0.191094 0.2435 0.2063 0.2767 0.0764 0.2157 0.25 0.21 0.23 0.09 0.2497 0.26 0.66 T 0.0 B 0.0 B 0.744 N 1.000 P -0.345 N 4.92 T -0.984 T 0.000 T 0.007 2.518 14.38 1.25 0.486 0.168 6.001 2.518259 2.518259 0.63 0.258721 0.110304 NA 0.196 NA 6.5814124 994 7 86813831 86813831 C G exonic DMTF1 NA synonymous SNV DMTF1:NM_001142326:exon10:c.C675G:p.V225V,DMTF1:NM_001142327:exon11:c.C939G:p.V313V,DMTF1:NM_021145:exon13:c.C939G:p.V313V exonic ENSG00000135164 NA synonymous SNV ENSG00000135164:ENST00000432937:exon10:c.C675G:p.V225V,ENSG00000135164:ENST00000547146:exon10:c.C939G:p.V313V,ENSG00000135164:ENST00000579850:exon10:c.C816G:p.V272V,ENSG00000135164:ENST00000331242:exon11:c.C939G:p.V313V,ENSG00000135164:ENST00000413276:exon11:c.C939G:p.V313V,ENSG00000135164:ENST00000414194:exon11:c.C141G:p.V47V,ENSG00000135164:ENST00000394703:exon13:c.C939G:p.V313V Score=759;Name=lod=1621 NA 7q21.12 NA NA NA NA rs11974238 0.04 0.04 0.039 0.034345 0.0268 0.0635 0.0115 0.0492 0.0082 0.03 0.06 0.01 0.05 0.0297 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.917415 NA NA 0.028953 0.04857 NA 0.116 NA 6.5812136 994 13 96601679 96601679 C T exonic UGGT2 NA synonymous SNV UGGT2:NM_020121:exon13:c.G1365A:p.L455L exonic ENSG00000102595 NA synonymous SNV ENSG00000102595:ENST00000376747:exon13:c.G1365A:p.L455L Score=259;Name=lod=15 NA 13q32.1 NA NA NA NA rs35405829 0.09 0.09 0.072 0.0884585 0.0179 0.1399 0.0346 0.1233 0.0992 0.02 0.15 0.04 0.14 0.0495 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179657 NA NA 0.018144 0.11376 NA 0.058 NA 6.5811226 994 7 30671087 30671087 T C exonic GARS NA synonymous SNV GARS:NM_002047:exon15:c.T1833C:p.V611V exonic ENSG00000106105 NA synonymous SNV ENSG00000106105:ENST00000389266:exon15:c.T1833C:p.V611V NA NA 7p14.3 Score=897;Name=V$CEBPB_02 NA NA NA rs14270 0.03 0.03 0.02 0.0251597 0.0278 NA 0.0288 0.059 NA 0.03 NA 0.02 0.06 0.0253 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882563 NA NA 0.032673 0.072126 ID=COSM1450343;OCCURENCE=1(large_intestine) 0.043 NA 6.5808936 994 10 79576772 79576772 G A exonic DLG5 NA synonymous SNV DLG5:NM_004747:exon19:c.C3867T:p.S1289S exonic ENSG00000151208 NA synonymous SNV ENSG00000151208:ENST00000424842:exon7:c.C750T:p.S250S,ENSG00000151208:ENST00000372388:exon18:c.C2847T:p.S949S,ENSG00000151208:ENST00000372391:exon19:c.C3867T:p.S1289S Score=484;Name=lod=124 NA 10q22.3 NA NA NA NA rs35837544 0.01 0.01 0.011 0.0169728 0.0209 0.003 0.0259 NA 0.044 0.02 0.0035 0.03 NA 0.0303 0.035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693186 NA NA 0.034767 0.007036 NA 0.007 NA 6.5806996 994 9 100234756 100234756 G A exonic TDRD7 NA synonymous SNV TDRD7:NM_014290:exon10:c.G1923A:p.K641K exonic ENSG00000196116 NA synonymous SNV ENSG00000196116:ENST00000422139:exon9:c.G1701A:p.K567K,ENSG00000196116:ENST00000355295:exon10:c.G1923A:p.K641K Score=496;Name=lod=138 NA 9q22.33 NA NA NA NA rs41281938 0.03 0.03 0.03 0.0435304 0.0258 0.001 0.0202 0.1112 0.0307 0.03 0.0017 0.02 0.08 0.0307 0.083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910828 NA NA 0.029651 0.082842 NA 0.043 NA 6.5805156 994 19 57036012 57036012 G T exonic ZNF471 NA nonsynonymous SNV ZNF471:NM_020813:exon5:c.G576T:p.M192I exonic ENSG00000196263 NA nonsynonymous SNV ENSG00000196263:ENST00000308031:exon5:c.G576T:p.M192I NA NA 19q13.43 NA NA NA NA rs11667052 0.2 0.2 0.192 0.183706 0.2813 0.0526 0.1398 0.2337 0.182 0.28 0.06 0.16 0.24 0.2201 0.28 0.38 T 0.0 B 0.001 B . . 1.000 P -1.545 N 2.5 T -0.921 T 0.000 T 0.066 -0.608 1.29 1.71 0.427 . 6.935 -0.607754 NA 0.49 0.25169 0.22874 NA 0.268 NA 6.5802434 994 19 621076 621076 G A exonic POLRMT NA synonymous SNV POLRMT:NM_005035:exon10:c.C2622T:p.S874S exonic ENSG00000099821 NA synonymous SNV ENSG00000099821:ENST00000588649:exon10:c.C2622T:p.S874S NA NA 19p13.3 NA NA NA Score=86;Name=1109569_0_+_86 rs1804751 0.02 0.02 0.017 0.0155751 0.0278 0.002 0.0274 0.0121 0.0133 0.02 0.0035 0.02 0.02 0.0249 0.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.595117 NA NA 0.033845 0.017508 NA 0.007 NA 6.5801216 994 8 144999684 144999684 A G exonic PLEC NA synonymous SNV PLEC:NM_201378:exon31:c.T4371C:p.A1457A,PLEC:NM_201379:exon31:c.T4347C:p.A1449A,PLEC:NM_201380:exon31:c.T4824C:p.A1608A,PLEC:NM_201381:exon31:c.T4317C:p.A1439A,PLEC:NM_201382:exon31:c.T4413C:p.A1471A,PLEC:NM_201383:exon31:c.T4425C:p.A1475A,PLEC:NM_201384:exon31:c.T4413C:p.A1471A,PLEC:NM_000445:exon32:c.T4494C:p.A1498A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon31:c.T4824C:p.A1608A,ENSG00000178209:ENST00000345136:exon31:c.T4413C:p.A1471A,ENSG00000178209:ENST00000354589:exon31:c.T4413C:p.A1471A,ENSG00000178209:ENST00000354958:exon31:c.T4347C:p.A1449A,ENSG00000178209:ENST00000356346:exon31:c.T4371C:p.A1457A,ENSG00000178209:ENST00000357649:exon31:c.T4425C:p.A1475A,ENSG00000178209:ENST00000398774:exon31:c.T4317C:p.A1439A,ENSG00000178209:ENST00000527096:exon31:c.T4482C:p.A1494A,ENSG00000178209:ENST00000436759:exon32:c.T4494C:p.A1498A NA NA 8q24.3 Score=784;Name=V$PAX5_01 NA NA NA rs35916068 0.25 0.25 0.199 0.232628 0.4274 0.1429 0.2968 0.034 0.3476 0.42 0.16 0.3 0.04 0.3356 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.148597 NA NA 0.324104 0.071235 NA 0.116 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078865.3;CLNDSDB=.;CLNDSDBID=. 6.5795626 994 12 53517552 53517552 G A exonic SOAT2 NA synonymous SNV SOAT2:NM_003578:exon14:c.G1413A:p.P471P exonic ENSG00000167780 NA synonymous SNV ENSG00000167780:ENST00000301466:exon14:c.G1413A:p.P471P NA NA 12q13.13 NA NA Name=3 NA rs55773507 0.02 0.02 0.011 0.0121805 0.0278 0.003 0.0403 0.0015 NA 0.03 0.0017 0.04 0.0041 0.024 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507286 NA NA 0.035814 0.007263 NA 0.094 NA 6.5790526 994 11 1643228 1643228 G A exonic KRTAP5-4 NA synonymous SNV KRTAP5-4:NM_001012709:exon1:c.C96T:p.G32G exonic ENSG00000241598 NA synonymous SNV ENSG00000241598:ENST00000399682:exon1:c.C96T:p.G32G Score=571;Name=lod=279 NA 11p15.5 Score=867;Name=V$SPZ1_01 NA NA NA rs61867574 0.43 0.43 0.341 0.511581 0.5427 0.377 0.4625 0.6142 0.5143 0.45 0.37 0.45 0.47 0.545 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.05601 NA NA NA NA NA 0.196 NA 6.5789666 994 8 18258316 18258316 G A exonic NAT2 NA nonsynonymous SNV NAT2:NM_000015:exon2:c.G803A:p.R268K exonic ENSG00000156006 NA nonsynonymous SNV ENSG00000156006:ENST00000286479:exon2:c.G803A:p.R268K,ENSG00000156006:ENST00000520116:exon2:c.G413A:p.R138K NA NA 8p22 NA NA NA NA rs1208 0.68 0.68 0.682 0.677117 0.5616 0.9603 0.6268 0.6051 0.637 0.56 0.97 0.6 0.6 0.6172 0.97 1 T 0.0 B 0.002 B 0.105 N 1.000 P . . 4.7 T -0.997 T 0.000 T 0.032 -2.883 0.001 1.54 0.047 0.588 4.697 -2.883121 NA 1 0.575832 0.600545 NA 0.674 CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=single;CLNACC=RCV000000760.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005 6.5787014 994 7 139724555 139724555 C G exonic PARP12 NA synonymous SNV PARP12:NM_022750:exon12:c.G1911C:p.P637P exonic ENSG00000059378 NA synonymous SNV ENSG00000059378:ENST00000263549:exon12:c.G1911C:p.P637P Score=410;Name=lod=62 NA 7q34 NA NA NA NA rs3735352 NA NA NA 0.0734824 0.0408 NA 0.0389 0.205 0.0297 NA NA NA NA 0.0479 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119501 NA NA NA NA NA 0.072 NA 6.5779666 994 22 25833596 25833596 C T intergenic LRP5L,CRYBB2P1 dist=56052;dist=10458 NA NA ncRNA_exonic ENSG00000271138 NA NA NA Score=371;Name=lod=43 NA 22q11.23 NA Name=MafK_(SC-477),MafK_(ab50322) Name=5 NA rs510618 0.47 0.47 0.445 0.458866 0.4225 0.7351 0.5187 0.1362 0.6053 0.44 0.76 0.53 0.14 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367089 NA NA NA NA NA 0.37 NA 6.5775 994 3 98304467 98304467 T C exonic CPOX NA synonymous SNV CPOX:NM_000097:exon5:c.A990G:p.E330E exonic ENSG00000080819 NA synonymous SNV ENSG00000080819:ENST00000264193:exon5:c.A990G:p.E330E Score=551;Name=lod=231 NA 3q12.1 NA Name=c-Fos,c-Jun,TCF4,GATA-1,TBP Name=91 NA rs1729995 0.76 0.76 0.773 0.753994 0.7048 0.7321 0.6744 0.8986 0.6881 0.71 0.76 0.72 0.89 0.7065 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184442 NA NA 0.678256 0.871993 NA 0.855 NA 6.5771106 994 2 70096862 70096862 T C exonic GMCL1 NA synonymous SNV GMCL1:NM_178439:exon12:c.T1230C:p.R410R exonic ENSG00000087338 NA synonymous SNV ENSG00000087338:ENST00000282570:exon12:c.T1230C:p.R410R Score=683;Name=lod=793 NA 2p13.3 NA NA NA NA rs114517801 0.01 0.01 0.012 0.0105831 0.0268 0.001 0.0231 0.0015 0.0072 0.02 NA 0.02 NA 0.0262 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046815 NA NA 0.037326 0.009305 NA NA NA 6.5763406 994 12 29639186 29639186 T C exonic OVCH1 NA nonsynonymous SNV OVCH1:NM_183378:exon8:c.A988G:p.K330E exonic ENSG00000187950 NA nonsynonymous SNV ENSG00000187950:ENST00000318184:exon8:c.A988G:p.K330E NA NA 12p11.22 NA NA NA NA rs3847680 0.63 0.63 0.661 0.615415 0.6044 0.7331 0.4813 0.6778 0.5164 0.59 0.75 0.47 0.68 0.5685 0.75 0.58 T 0.0 B 0.0 B . . 1.000 P 0 N -2.07 D -0.946 T 0.000 T 0.025 -2.07 0.006 1.03 -0.006 -0.432 4.328 -2.069785 NA 0.91 0.584351 0.659326 NA 0.71 NA 6.5760824 994 5 108672946 108672946 C T exonic PJA2 NA nonsynonymous SNV PJA2:NM_014819:exon10:c.G2113A:p.A705T exonic ENSG00000198961 NA nonsynonymous SNV ENSG00000198961:ENST00000361557:exon9:c.G2113A:p.A705T,ENSG00000198961:ENST00000361189:exon10:c.G2113A:p.A705T NA NA 5q21.3 NA NA NA NA rs246105 0.31 0.31 0.283 0.298922 0.2475 0.5565 0.2781 0.1172 0.3466 0.25 0.59 0.27 0.13 0.2756 0.59 0.1 T 0.0 B 0.0 B 0.387 N 1.000 P 0 N 2.8 T -0.998 T 0.000 T 0.016 1.913 12.36 0.451 0.125 0.041 3.747 1.913297 1.913297 0.14 0.234419 0.161898 NA 0.217 NA 6.5758144 994 6 139206937 139206937 A G exonic ECT2L NA synonymous SNV ECT2L:NM_001195037:exon17:c.A2229G:p.Q743Q,ECT2L:NM_001077706:exon18:c.A2229G:p.Q743Q exonic ENSG00000203734 NA synonymous SNV ENSG00000203734:ENST00000367682:exon16:c.A2229G:p.Q743Q,ENSG00000203734:ENST00000423192:exon17:c.A2229G:p.Q743Q Score=243;Name=lod=13 NA 6q24.1 NA NA NA NA rs17067993 0.12 0.12 0.128 0.127796 0.0209 0.2183 0.0346 0.2474 0.0491 0.02 0.23 0.04 0.22 0.0513 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891728 NA NA 0.01937 0.180754 NA 0.116 NA 6.5750966 995 2 206874339 206874339 G A exonic INO80D NA synonymous SNV INO80D:NM_017759:exon9:c.C1722T:p.P574P exonic ENSG00000114933 NA synonymous SNV ENSG00000114933:ENST00000403263:exon9:c.C1722T:p.P574P Score=605;Name=lod=383 NA 2q33.3 Score=821;Name=V$GFI1_01 NA NA NA rs817991 0.38 0.38 0.373 0.38758 0.3499 0.502 0.3228 0.2035 0.6033 0.36 0.54 0.33 0.24 0.3868 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.2137 NA NA 0.356475 0.199848 NA 0.399 NA 6.5734916 995 6 130761867 130761867 T C exonic TMEM200A NA synonymous SNV TMEM200A:NM_001258276:exon2:c.T300C:p.N100N,TMEM200A:NM_001258278:exon2:c.T300C:p.N100N,TMEM200A:NM_052913:exon2:c.T300C:p.N100N,TMEM200A:NM_001258277:exon3:c.T300C:p.N100N exonic ENSG00000164484 NA synonymous SNV ENSG00000164484:ENST00000392429:exon2:c.T300C:p.N100N,ENSG00000164484:ENST00000545622:exon2:c.T300C:p.N100N,ENSG00000164484:ENST00000296978:exon3:c.T300C:p.N100N Score=346;Name=lod=34 NA 6q23.1 NA NA NA NA rs12207253 0.02 0.02 0.019 0.0131789 0.0298 NA 0.0159 0.0189 NA 0.03 NA 0.02 0.01 0.0274 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544529 NA NA 0.037442 0.026101 NA NA NA 6.5720246 995 11 71548544 71548544 A G exonic DEFB108B NA nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.A158G:p.Q53R exonic ENSG00000184276 NA nonsynonymous SNV ENSG00000184276:ENST00000328698:exon2:c.A158G:p.Q53R NA NA 11q13.4 NA NA NA NA rs7120658 0.47 0.47 0.454 0.536741 0.5984 0.3631 0.3934 0.6589 0.589 0.56 0.33 0.41 0.56 0.5603 0.64 1 T 0.0 B 0.0 B 0.965 N 1.000 P . . 2.88 T -0.952 T 0.000 T 0.036 -0.681 1.034 -0.755 -0.735 -0.990 5.205 -0.680836 NA 1 0.60289 0.635682 ID=COSM232151;OCCURENCE=1(skin) 0.138 NA 6.5717434 995 2 240055966 240055966 C T exonic HDAC4 NA synonymous SNV HDAC4:NM_006037:exon11:c.G1269A:p.P423P exonic ENSG00000068024 NA synonymous SNV ENSG00000068024:ENST00000543185:exon5:c.G21A:p.P7P,ENSG00000068024:ENST00000541256:exon9:c.G1176A:p.P392P,ENSG00000068024:ENST00000345617:exon11:c.G1269A:p.P423P Score=509;Name=lod=156 NA 2q37.3 NA NA NA NA rs35291459 0.08 0.08 0.098 0.091254 0.0258 0.0149 0.0447 0.2821 0.0123 0.02 0.02 0.04 0.27 0.0419 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707324 NA NA 0.027674 0.221289 NA 0.094 NA 6.5712926 995 8 99208190 99208190 A C exonic NIPAL2 NA synonymous SNV NIPAL2:NM_024759:exon9:c.T924G:p.T308T exonic ENSG00000104361 NA synonymous SNV ENSG00000104361:ENST00000341166:exon9:c.T924G:p.T308T,ENSG00000104361:ENST00000430223:exon9:c.T924G:p.T308T Score=564;Name=lod=261 NA 8q22.2 Score=894;Name=V$FREAC7_01 NA NA NA rs3779721 0.38 0.38 0.371 0.407348 0.3479 0.4325 0.4841 0.3026 0.5297 0.35 0.45 0.44 0.31 0.3896 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914388 NA NA 0.358223 0.305719 NA 0.362 NA 6.5709436 995 6 24653283 24653283 T C exonic TDP2 NA synonymous SNV TDP2:NM_016614:exon6:c.A735G:p.L245L exonic ENSG00000111802 NA synonymous SNV ENSG00000111802:ENST00000341060:exon5:c.A561G:p.L187L,ENSG00000111802:ENST00000378198:exon6:c.A735G:p.L245L,ENSG00000111802:ENST00000545995:exon6:c.A825G:p.L275L NA NA 6p22.3 NA NA Name=6 NA rs11559067 0.02 0.02 0.014 0.0119808 0.0318 0.001 0.0202 0.003 0.0092 0.03 0.0017 0.03 0.0041 0.0267 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479703 NA NA 0.037442 0.008852 NA 0.014 NA 6.5707246 995 5 95733112 95733112 A G exonic PCSK1 NA synonymous SNV PCSK1:NM_001177876:exon6:c.T720C:p.N240N,PCSK1:NM_000439:exon12:c.T1650C:p.N550N,PCSK1:NM_001177875:exon12:c.T1509C:p.N503N exonic ENSG00000175426 NA synonymous SNV ENSG00000175426:ENST00000311106:exon12:c.T1650C:p.N550N,ENSG00000175426:ENST00000508626:exon12:c.T1509C:p.N503N Score=640;Name=lod=530 NA 5q15 Score=824;Name=V$PPARG_03 NA NA NA rs6233 0.34 0.34 0.341 0.342851 0.3678 0.2401 0.4078 0.4092 0.2873 0.35 0.26 0.44 0.36 0.3528 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24893 1.24893 NA 0.375581 0.413527 NA 0.442 NA 6.5704856 995 6 29974500 29974500 A G ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_exonic ENSG00000237669 NA NA NA NA NA 6p22.1 NA Name=TAF1,Pol2,SUZ12,HEY1 Name=9 NA rs9261105 0.18 0.18 0.197 0.191294 0.0964 0.1895 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374867 NA NA NA NA NA 0.167 NA 6.5702666 995 12 52886478 52886478 T C exonic KRT6A NA synonymous SNV KRT6A:NM_005554:exon1:c.A495G:p.E165E exonic ENSG00000205420 NA synonymous SNV ENSG00000205420:ENST00000330722:exon1:c.A495G:p.E165E Score=610;Name=lod=403 NA 12q13.13 Score=776;Name=V$PAX5_01 NA NA NA rs376545 0.39 0.39 0.42 0.361022 0.3748 0.5397 0.3458 0.3238 0.2239 0.32 0.57 0.33 0.35 0.3564 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12144 NA NA 0.365783 0.307081 NA 0.471 NA 6.5696836 995 16 69493016 69493016 A G exonic CYB5B NA synonymous SNV CYB5B:NM_030579:exon4:c.A354G:p.T118T exonic ENSG00000103018 NA synonymous SNV ENSG00000103018:ENST00000568237:exon2:c.A96G:p.T32T,ENSG00000103018:ENST00000307892:exon4:c.A354G:p.T118T,ENSG00000103018:ENST00000512062:exon4:c.A342G:p.T114T,ENSG00000103018:ENST00000561792:exon4:c.A342G:p.T114T NA NA 16q22.1 Score=754;Name=V$PPARA_01 NA NA NA rs35730706 0.03 0.03 0.025 0.023762 0.0338 0.0506 0.0173 0.0015 0.0204 0.04 0.06 0.02 0.002 0.032 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.468692 1.468692 NA 0.031189 0.006118 NA 0.007 NA 6.5696776 995 11 131781634 131781634 G A intronic NTM NA NA NA intronic ENSG00000182667 NA NA NA NA NA 11q25 Score=680;Name=V$P53_01 Name=CTCF Name=13 NA rs11222836 0.42 0.42 0.39 0.361821 0.4304 0.6766 0.4092 0.0915 0.2986 0.43 0.67 0.4 0.13 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96694 NA NA NA NA NA 0.239 NA 6.5696 995 5 34811137 34811137 T G exonic RAI14 NA synonymous SNV RAI14:NM_001145523:exon7:c.T447G:p.L149L,RAI14:NM_001145520:exon8:c.T471G:p.L157L,RAI14:NM_001145522:exon8:c.T471G:p.L157L,RAI14:NM_015577:exon8:c.T471G:p.L157L,RAI14:NM_001145521:exon9:c.T471G:p.L157L,RAI14:NM_001145525:exon10:c.T480G:p.L160L exonic ENSG00000039560 NA synonymous SNV ENSG00000039560:ENST00000397449:exon7:c.T450G:p.L150L,ENSG00000039560:ENST00000506376:exon7:c.T447G:p.L149L,ENSG00000039560:ENST00000265109:exon8:c.T471G:p.L157L,ENSG00000039560:ENST00000428746:exon8:c.T471G:p.L157L,ENSG00000039560:ENST00000512629:exon8:c.T471G:p.L157L,ENSG00000039560:ENST00000503673:exon9:c.T471G:p.L157L,ENSG00000039560:ENST00000515799:exon10:c.T480G:p.L160L Score=617;Name=lod=428 NA 5p13.2 NA Name=STAT1 NA NA rs2271522 0.31 0.31 0.269 0.320088 0.3907 0.3591 0.4928 0.0741 0.4172 0.37 0.35 0.46 0.05 0.3503 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.307892 1.307892 NA 0.357791 0.124603 NA 0.341 NA 6.5678756 995 4 82126121 82126121 C G exonic PRKG2 NA synonymous SNV PRKG2:NM_006259:exon1:c.G81C:p.R27R exonic ENSG00000138669 NA synonymous SNV ENSG00000138669:ENST00000264399:exon1:c.G81C:p.R27R,ENSG00000138669:ENST00000395578:exon2:c.G81C:p.R27R,ENSG00000138669:ENST00000418486:exon2:c.G81C:p.R27R Score=393;Name=lod=53 NA 4q21.21 NA NA NA NA rs17484474 0.02 0.02 0.015 0.014976 0.0388 NA 0.0317 0.003 0.0102 0.04 NA 0.04 0.002 0.0225 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270253 NA NA 0.037558 0.008852 NA 0.007 NA 6.5678086 995 17 33768199 33768199 G A exonic SLFN13 NA synonymous SNV SLFN13:NM_144682:exon6:c.C2109T:p.D703D exonic ENSG00000154760 NA synonymous SNV ENSG00000154760:ENST00000533791:exon4:c.C2109T:p.D703D,ENSG00000154760:ENST00000360502:exon5:c.C1155T:p.D385D,ENSG00000154760:ENST00000285013:exon6:c.C2109T:p.D703D,ENSG00000154760:ENST00000542635:exon6:c.C2109T:p.D703D,ENSG00000154760:ENST00000526861:exon7:c.C2109T:p.D703D,ENSG00000154760:ENST00000534689:exon7:c.C1155T:p.D385D Score=385;Name=lod=49 NA 17q12 Score=822;Name=V$MEF2_03 NA NA NA rs1822403 0.4 0.4 0.421 0.370208 0.3688 0.3849 0.3314 0.5068 0.1994 0.35 0.42 0.37 0.49 0.3555 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504671 NA NA 0.374651 0.477531 ID=COSM148241;OCCURENCE=1(stomach) 0.391 NA 6.5677156 995 10 115489152 115489152 C G exonic CASP7 NA nonsynonymous SNV CASP7:NM_001267058:exon6:c.C690G:p.D230E,CASP7:NM_001227:exon7:c.C765G:p.D255E,CASP7:NM_001267056:exon7:c.C765G:p.D255E,CASP7:NM_001267057:exon7:c.C1020G:p.D340E,CASP7:NM_033338:exon8:c.C864G:p.D288E,CASP7:NM_033339:exon8:c.C765G:p.D255E,CASP7:NM_033340:exon8:c.C731G:p.T244S exonic ENSG00000165806 NA nonsynonymous SNV ENSG00000165806:ENST00000452490:exon6:c.C690G:p.D230E,ENSG00000165806:ENST00000369318:exon7:c.C765G:p.D255E,ENSG00000165806:ENST00000345633:exon8:c.C765G:p.D255E,ENSG00000165806:ENST00000369315:exon8:c.C765G:p.D255E,ENSG00000165806:ENST00000369321:exon8:c.C864G:p.D288E,ENSG00000165806:ENST00000369331:exon8:c.C731G:p.T244S NA NA 10q25.3 NA NA NA NA rs2227310 0.27 0.27 0.262 0.2498 0.2535 0.4157 0.2579 0.1278 0.2342 0.24 0.43 0.28 0.13 0.2598 0.43 1 T 0.0 B 0.001 B 0.514 N 0.000 P . . 1.9 T -0.917 T 0.000 T 0.03 -0.186 3.097 1.66 0.362 -0.776 6.114 -0.185662 NA 1 0.252558 0.144803 NA 0.21 NA 6.5674754 995 1 39801815 39801815 A C intronic MACF1 NA NA NA exonic ENSG00000127603 NA nonsynonymous SNV ENSG00000127603:ENST00000289893:exon1:c.A4875C:p.K1625N,ENSG00000127603:ENST00000372915:exon36:c.A9570C:p.K3190N,ENSG00000127603:ENST00000564288:exon37:c.A9555C:p.K3185N,ENSG00000127603:ENST00000567887:exon37:c.A9666C:p.K3222N NA NA 1p34.3 NA NA NA NA rs41270807 0.15 0.15 0.135 0.118211 0.1948 0.1597 0.2046 0.0121 0.0787 0.19 0.16 0.21 0.02 0.1842 0.22 0.02 D 0.157 B 0.125 B 0.861 N 1.000 P 0.695 N 0.45 T -1.077 T 0.000 T 0.105 -0.784 0.72 1.25 0.021 0.781 3.284 -0.784039 NA NA 0.220489 0.040485 NA 0.109 NA 6.5671777 995 10 105765745 105765745 A G exonic SLK NA synonymous SNV SLK:NM_014720:exon11:c.A2556G:p.L852L exonic ENSG00000065613 NA synonymous SNV ENSG00000065613:ENST00000335753:exon11:c.A2556G:p.L852L,ENSG00000065613:ENST00000369755:exon11:c.A2556G:p.L852L Score=655;Name=lod=612 NA 10q24.33 NA NA NA NA rs805662 0.02 0.02 0.008 0.0175719 0.0288 NA 0.062 0.0023 0.0133 0.03 NA 0.05 0.0041 0.0306 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075061 NA NA 0.040116 0.006809 NA NA NA 6.5671506 995 15 29033856 29033856 G C ncRNA_exonic LOC100289656 NA NA NA ncRNA_exonic ENSG00000232431 NA NA NA NA NA 15q13.1 NA NA NA NA rs113849928 0.07 0.07 0.07 0.0964457 0.0308 0.0377 0.0403 0.2141 0.1053 0.03 0.04 0.04 0.18 0.0691 0.18 0 D . . . . . . . . . . . . -1.050 T 0.000 T . -0.156 3.236 -0.505 -0.020 0.674 4.709 -0.156386 NA NA NA NA NA 0.036 NA 6.5667666 995 7 30673401 30673401 A G exonic GARS NA synonymous SNV GARS:NM_002047:exon17:c.A2145G:p.T715T exonic ENSG00000106105 NA synonymous SNV ENSG00000106105:ENST00000389266:exon17:c.A2145G:p.T715T Score=503;Name=lod=147 NA 7p14.3 NA NA NA NA rs4593 0.08 0.08 0.087 0.0764776 0.0278 NA 0.0403 0.2474 NA 0.03 NA 0.04 0.27 0.0387 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063055 NA NA 0.03364 0.219175 NA 0.101 NA 6.5665266 995 7 94041937 94041937 A C exonic COL1A2 NA synonymous SNV COL1A2:NM_000089:exon25:c.A1446C:p.P482P exonic ENSG00000164692 NA synonymous SNV ENSG00000164692:ENST00000297268:exon25:c.A1446C:p.P482P Score=626;Name=lod=466 NA 7q21.3 Score=920;Name=V$LMO2COM_01 NA NA NA rs412777 0.34 0.34 0.345 0.327276 0.3837 0.3085 0.2882 0.3396 0.2996 0.39 0.33 0.31 0.31 0.3459 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04748 NA NA 0.370698 0.342261 ID=COSM1452968;OCCURENCE=1(large_intestine) 0.239 NA 6.5663686 995 14 92588002 92588002 T G exonic NDUFB1 NA synonymous SNV NDUFB1:NM_004545:exon1:c.A120C:p.V40V exonic ENSG00000183648 NA synonymous SNV ENSG00000183648:ENST00000329559:exon1:c.A120C:p.V40V NA NA 14q32.12 NA Name=Oct-2,POU2F2,TAF1,BRCA1_(C-1863),TAF7_(SQ-8),Pol2(phosphoS2),Pol2,NRSF,SP1,PAX5-C20,NFKB,HEY1,ZBTB7A_(SC-34508),FOXA1_(C-20),Pol2-4H8,E2F1,HA-E2F1 Name=147 NA rs3818263 0.54 0.54 0.537 0.539736 0.334 0.8552 0.379 0.5514 0.5245 0.34 0.87 0.35 0.6 0.4273 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002712 NA NA 0.339111 0.506582 ID=COSM1563049;OCCURENCE=1(large_intestine) 0.486 NA 6.5662556 995 22 44594584 44594584 C G exonic PARVG NA synonymous SNV PARVG:NM_001137605:exon12:c.C795G:p.P265P,PARVG:NM_022141:exon12:c.C795G:p.P265P exonic ENSG00000138964 NA synonymous SNV ENSG00000138964:ENST00000415224:exon12:c.C795G:p.P265P,ENSG00000138964:ENST00000422871:exon12:c.C795G:p.P265P,ENSG00000138964:ENST00000444313:exon12:c.C795G:p.P265P Score=514;Name=lod=163 NA 22q13.31 Score=843;Name=V$P300_01 NA NA NA rs139152 0.24 0.24 0.219 0.204073 0.3966 0.1954 0.2046 0.0545 0.2168 0.39 0.19 0.24 0.08 0.3107 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789009 NA NA 0.393256 0.103268 NA 0.217 NA 6.5661106 995 15 75091247 75091247 C T exonic CSK NA synonymous SNV CSK:NM_004383:exon4:c.C210T:p.G70G,CSK:NM_001127190:exon5:c.C210T:p.G70G exonic ENSG00000103653 NA synonymous SNV ENSG00000103653:ENST00000220003:exon4:c.C210T:p.G70G,ENSG00000103653:ENST00000309470:exon4:c.C210T:p.G70G,ENSG00000103653:ENST00000569462:exon4:c.C210T:p.G70G,ENSG00000103653:ENST00000439220:exon5:c.C210T:p.G70G,ENSG00000103653:ENST00000567571:exon6:c.C210T:p.G70G Score=527;Name=lod=185 NA 15q24.1 NA NA NA NA rs11553760 0.08 0.08 0.065 0.0892572 0.0249 0.2808 0.0245 0.028 0.0869 0.03 0.22 0.03 0.03 0.0541 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031763 NA NA 0.021997 0.034137 NA 0.058 NA 6.5656696 995 8 105263979 105263979 C T exonic RIMS2 NA synonymous SNV RIMS2:NM_014677:exon22:c.C3423T:p.A1141A,RIMS2:NM_001100117:exon24:c.C3981T:p.A1327A exonic ENSG00000176406 NA synonymous SNV ENSG00000176406:ENST00000339750:exon6:c.C789T:p.A263A,ENSG00000176406:ENST00000262231:exon21:c.C3498T:p.A1166A,ENSG00000176406:ENST00000507740:exon22:c.C3423T:p.A1141A,ENSG00000176406:ENST00000406091:exon24:c.C3981T:p.A1327A,ENSG00000176406:ENST00000436393:exon28:c.C4035T:p.A1345A Score=641;Name=lod=539 NA 8q22.3 Score=805;Name=V$ARP1_01 NA NA NA rs10461 0.5 0.5 0.477 0.478035 0.3529 0.6498 0.536 0.5227 0.3282 0.36 0.62 0.51 0.56 0.3996 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009341 NA NA 0.349133 0.497591 NA 0.493 NA 6.5650336 996 1 51912760 51912760 T G exonic EPS15 NA synonymous SNV EPS15:NM_001981:exon10:c.A669C:p.A223A exonic ENSG00000085832 NA synonymous SNV ENSG00000085832:ENST00000371730:exon10:c.A669C:p.A223A,ENSG00000085832:ENST00000371733:exon10:c.A669C:p.A223A Score=637;Name=lod=516 NA 1p32.3 NA NA NA NA rs34704431 0.04 0.04 0.043 0.0469249 0.0328 0.0109 0.0274 0.0983 0.0429 0.03 0.02 0.03 0.09 0.0376 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790133 NA NA 0.031744 0.07921 NA 0.043 NA 6.5645226 996 7 110763563 110763563 T C exonic LRRN3 NA synonymous SNV LRRN3:NM_018334:exon2:c.T735C:p.D245D,LRRN3:NM_001099658:exon3:c.T735C:p.D245D,LRRN3:NM_001099660:exon4:c.T735C:p.D245D exonic ENSG00000173114 NA synonymous SNV ENSG00000173114:ENST00000422987:exon2:c.T735C:p.D245D,ENSG00000173114:ENST00000308478:exon3:c.T735C:p.D245D,ENSG00000173114:ENST00000421101:exon4:c.T735C:p.D245D,ENSG00000173114:ENST00000451085:exon4:c.T735C:p.D245D Score=515;Name=lod=165 NA 7q31.1 NA NA NA NA rs214865 0.09 0.09 0.116 0.0942492 0.0298 0.002 0.0418 0.3011 0.0133 0.03 NA 0.04 0.34 0.0449 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582422 NA NA 0.027455 0.273037 NA 0.13 NA 6.5645116 996 13 30784566 30784566 A G exonic KATNAL1 NA synonymous SNV KATNAL1:NM_001014380:exon10:c.T1161C:p.A387A,KATNAL1:NM_032116:exon10:c.T1161C:p.A387A exonic ENSG00000102781 NA synonymous SNV ENSG00000102781:ENST00000380615:exon10:c.T1161C:p.A387A,ENSG00000102781:ENST00000380617:exon10:c.T1161C:p.A387A Score=535;Name=lod=200 NA 13q12.3 NA NA NA NA rs11617724 0.05 0.05 0.048 0.0447284 0.0328 NA 0.036 0.1233 0.0031 0.03 NA 0.04 0.12 0.0332 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.359146 1.359146 NA 0.037093 0.109623 NA 0.036 NA 6.5635736 996 9 116356373 116356373 G C exonic RGS3 NA synonymous SNV RGS3:NM_144489:exon1:c.G174C:p.L58L exonic ENSG00000138835 NA synonymous SNV ENSG00000138835:ENST00000462403:exon1:c.G174C:p.L58L Score=471;Name=lod=109 NA 9q32 NA Name=ELF1_(SC-631),Rad21,USF1_(SC-8983),TAF7_(SQ-8),Pol2,SP1,NRSF,TAF1,TBP,USF-1,HEY1,c-Myc,Pol2-4H8,JunD,FOSL2,Pol2(b) Name=140 NA rs12350531 0.76 0.76 0.736 0.742212 0.6978 0.879 0.7637 0.6853 0.7086 0.7 0.89 0.74 0.72 0.7242 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92612 NA NA 0.682061 0.68574 ID=COSM455194;OCCURENCE=1(breast) 0.717 NA 6.5626056 996 8 52232487 52232487 G T exonic PXDNL NA nonsynonymous SNV PXDNL:NM_144651:exon23:c.C4356A:p.D1452E exonic ENSG00000147485 NA nonsynonymous SNV ENSG00000147485:ENST00000356297:exon23:c.C4356A:p.D1452E NA NA 8q11.22 NA NA NA NA rs1052704 0.3 0.3 0.309 0.3125 0.2396 0.1111 0.2118 0.6377 0.227 0.24 0.12 0.24 0.63 0.2695 0.63 0.82 T 0.008 B 0.004 B . . 1.000 P 0.125 N -0.12 T -0.962 T 0.000 T 0.103 0.039 4.215 -0.13 -0.131 -0.186 3.755 0.038775 NA 0.45 0.261824 0.553411 NA 0.319 NA 6.5624094 996 9 77436641 77436641 G A exonic TRPM6 NA synonymous SNV TRPM6:NM_001177310:exon8:c.C939T:p.G313G,TRPM6:NM_001177311:exon8:c.C939T:p.G313G,TRPM6:NM_017662:exon8:c.C954T:p.G318G exonic ENSG00000119121 NA synonymous SNV ENSG00000119121:ENST00000360774:exon8:c.C954T:p.G318G,ENSG00000119121:ENST00000361255:exon8:c.C939T:p.G313G,ENSG00000119121:ENST00000376864:exon8:c.C954T:p.G318G,ENSG00000119121:ENST00000376871:exon8:c.C954T:p.G318G,ENSG00000119121:ENST00000376872:exon8:c.C954T:p.G318G,ENSG00000119121:ENST00000449912:exon8:c.C939T:p.G313G,ENSG00000119121:ENST00000451710:exon8:c.C954T:p.G318G Score=482;Name=lod=121 NA 9q21.13 Score=800;Name=V$PAX4_01 NA NA NA rs7018994 0.36 0.36 0.329 0.358826 0.3787 0.5536 0.4438 0.0673 0.4714 0.35 0.54 0.46 0.09 0.3722 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559684 NA NA 0.353837 0.116205 NA 0.304 NA 6.5619296 996 7 5417609 5417609 G A exonic TNRC18 NA synonymous SNV TNRC18:NM_001080495:exon6:c.C2199T:p.H733H exonic ENSG00000182095 NA synonymous SNV ENSG00000182095:ENST00000413081:exon2:c.C405T:p.H135H,ENSG00000182095:ENST00000399537:exon6:c.C2199T:p.H733H,ENSG00000182095:ENST00000430969:exon6:c.C2199T:p.H733H Score=426;Name=lod=72 NA 7p22.1 NA NA NA NA rs116929984 0.02 0.02 0.009 0.0197684 0.0288 NA 0.0893 0.0008 0.0072 0.03 NA 0.06 0.0041 0.037 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179841 NA NA 0.039871 0.008138 NA 0.014 NA 6.5609956 996 17 8079029 8079029 G C intronic TMEM107 NA NA NA exonic ENSG00000179029 NA stopgain ENSG00000179029:ENST00000532998:exon3:c.C302G:p.S101X NA NA 17p13.1 NA NA Name=3 NA rs8064449 0.58 0.58 0.538 0.588059 0.6561 0.496 0.6744 0.4607 0.7239 0.66 0.54 0.65 0.45 0.6426 0.66 0 D . . . . . . 1.000 P . . . . -0.956 T 0.000 T . 3.875 19.69 1.23 0.624 0.111 4.563 3.874844 3.874844 0 0.640698 0.489787 NA 0.572 NA 6.560602 996 5 72144209 72144209 C T intronic TNPO1 NA NA NA intronic ENSG00000083312 NA NA NA Score=684;Name=lod=800 NA 5q13.2 NA Name=Pol2(b),GABP,YY1,Pol2,Pol2-4H8,HA-E2F1,YY1_(C-20),c-Myc Name=148 NA rs34652 0.2 0.2 0.166 0.169329 0.163 0.3909 0.1037 0.1293 0.0481 0.16 0.38 0.11 0.13 0.1444 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.109997 2.109997 NA 0.132558 0.137313 NA 0.101 NA 6.560042 996 20 44417643 44417643 A G exonic WFDC3 NA synonymous SNV WFDC3:NM_080614:exon3:c.T138C:p.G46G exonic ENSG00000124116 NA synonymous SNV ENSG00000124116:ENST00000372632:exon2:c.T138C:p.G46G,ENSG00000124116:ENST00000243938:exon3:c.T138C:p.G46G NA NA 20q13.12 NA NA NA NA rs6032537 0.68 0.68 0.667 0.654553 0.7058 0.6458 0.7896 0.6384 0.5368 0.73 0.62 0.76 0.6 0.6888 0.76 . . . . . . . . 1.000 P . . . . -1.001 T 0.000 T . -1.3 0.037 -2.56 -0.831 -1.249 8.035 -1.29988 NA NA 0.713721 0.664775 ID=COSM1178472;OCCURENCE=1(prostate) 0.761 NA 6.5583456 996 3 10089738 10089738 A G intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA Score=483;Name=lod=122 NA 3p25.3 NA Name=ERalpha_a,FOXA1_(C-20),p300 Name=9 NA rs62245508 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA 0.4417 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.474309 2.474309 NA NA NA NA NA NA 6.5583 996 9 94487066 94487066 C T exonic ROR2 NA synonymous SNV ROR2:NM_004560:exon9:c.G1710A:p.P570P exonic ENSG00000169071 NA synonymous SNV ENSG00000169071:ENST00000375708:exon9:c.G1710A:p.P570P,ENSG00000169071:ENST00000375715:exon9:c.G1290A:p.P430P NA NA 9q22.31 Score=836;Name=V$PAX4_01 NA NA NA rs41277837 0.02 0.02 0.019 0.013778 0.0388 NA 0.0202 0.0023 0.0133 0.04 NA 0.03 0.0041 0.0288 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381559 NA NA 0.041047 0.01044 NA 0.022 NA 6.5580196 996 11 102643718 102643718 G T exonic MMP10 NA synonymous SNV MMP10:NM_002425:exon8:c.C1086A:p.I362I exonic ENSG00000166670 NA synonymous SNV ENSG00000166670:ENST00000279441:exon8:c.C1086A:p.I362I Score=329;Name=lod=29 NA 11q22.2 NA NA NA NA rs17359286 0.02 0.02 0.023 0.0111821 0.0408 NA 0.0159 0.0015 0.002 0.04 NA 0.01 0.0041 0.0293 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573588 NA NA 0.038623 0.006355 NA 0.014 NA 6.5579436 996 20 3686512 3686512 G A exonic SIGLEC1 NA synonymous SNV SIGLEC1:NM_023068:exon3:c.C585T:p.G195G exonic ENSG00000088827 NA synonymous SNV ENSG00000088827:ENST00000202578:exon3:c.C585T:p.G195G,ENSG00000088827:ENST00000344754:exon3:c.C585T:p.G195G NA NA 20p13 Score=899;Name=V$AP2_Q6 NA NA NA rs6052021 0.11 0.11 0.14 0.114217 0.0278 NA 0.0447 0.3654 0.0307 0.03 NA 0.04 0.42 0.0521 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.145819 NA NA 0.029186 0.322742 NA 0.167 NA 6.5575806 996 12 62749124 62749124 A T exonic USP15 NA synonymous SNV USP15:NM_006313:exon7:c.A696T:p.S232S,USP15:NM_001252078:exon8:c.A783T:p.S261S exonic ENSG00000135655 NA synonymous SNV ENSG00000135655:ENST00000353364:exon7:c.A696T:p.S232S,ENSG00000135655:ENST00000393654:exon7:c.A708T:p.S236S,ENSG00000135655:ENST00000280377:exon8:c.A783T:p.S261S Score=708;Name=lod=1004 NA 12q14.1 NA NA NA NA rs34633189 0.03 0.03 0.024 0.0289537 0.0368 0.001 0.0303 0.0522 0.0174 0.03 NA 0.03 0.05 0.0351 0.056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239235 1.239235 NA 0.037227 0.05606 NA 0.029 NA 6.5575396 996 8 2040181 2040181 T G exonic MYOM2 NA synonymous SNV MYOM2:NM_003970:exon16:c.T1836G:p.P612P exonic ENSG00000036448 NA synonymous SNV ENSG00000036448:ENST00000523438:exon3:c.T111G:p.P37P,ENSG00000036448:ENST00000262113:exon16:c.T1836G:p.P612P Score=366;Name=lod=41 NA 8p23.3 NA NA NA NA rs17064685 0.06 0.06 0.058 0.071885 0.0427 0.001 0.0562 0.2042 0.0072 0.04 NA 0.07 0.17 0.0386 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365728 NA NA 0.028837 0.186564 NA 0.065 NA 6.5565296 996 20 62598815 62598815 C T exonic ZNF512B NA synonymous SNV ZNF512B:NM_020713:exon3:c.G183A:p.P61P exonic ENSG00000196700 NA synonymous SNV ENSG00000196700:ENST00000217130:exon3:c.G183A:p.P61P,ENSG00000196700:ENST00000369888:exon3:c.G183A:p.P61P,ENSG00000196700:ENST00000450537:exon3:c.G183A:p.P61P Score=391;Name=lod=52 NA 20q13.33 Score=734;Name=V$PPARG_01 NA NA NA rs817330 0.28 0.28 0.272 0.319089 0.3767 0.0516 0.2507 0.4402 0.4202 0.37 0.05 0.25 0.42 0.3614 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660907 NA NA 0.372093 0.447118 ID=COSM1413222;OCCURENCE=1(large_intestine) 0.377 NA 6.5564736 996 7 5036645 5036645 T C ncRNA_exonic RNF216P1 NA NA NA ncRNA_exonic ENSG00000196204 NA NA NA Score=551;Name=lod=231 NA 7p22.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs9639893 0.15 0.15 0.129 0.139976 0.1103 0.254 0.1715 0.0598 0.1391 0.1 0.27 0.18 0.06 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144928 NA NA NA NA NA 0.087 NA 6.5563666 996 7 5036720 5036720 C T ncRNA_exonic RNF216P1 NA NA NA ncRNA_exonic ENSG00000196204 NA NA NA Score=470;Name=lod=108 NA 7p22.1 NA Name=CTCF,CTCF_(SC-5916) NA NA rs9639894 0.14 0.14 0.126 0.135184 0.1103 0.2351 0.1671 0.0582 0.1391 0.1 0.24 0.17 0.06 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07313 NA NA NA NA NA 0.101 NA 6.5563666 996 11 123901175 123901175 C A exonic OR10G8 NA synonymous SNV OR10G8:NM_001004464:exon1:c.C846A:p.L282L exonic ENSG00000234560 NA synonymous SNV ENSG00000234560:ENST00000431524:exon1:c.C846A:p.L282L Score=452;Name=lod=92 NA 11q24.2 NA NA NA NA rs11825515 0.06 0.06 0.056 0.0732827 0.0308 0.0734 0.0202 0.1286 0.0798 0.04 0.09 0.02 0.11 0.0493 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571385 NA NA 0.031054 0.121763 ID=COSM147364;OCCURENCE=1(stomach) 0.072 NA 6.5555126 997 15 44038899 44038899 C T exonic PDIA3 NA synonymous SNV PDIA3:NM_005313:exon1:c.C162T:p.A54A exonic ENSG00000167004 NA synonymous SNV ENSG00000167004:ENST00000300289:exon1:c.C162T:p.A54A,ENSG00000167004:ENST00000434494:exon1:c.C162T:p.A54A,ENSG00000167004:ENST00000446523:exon1:c.C162T:p.A54A,ENSG00000167004:ENST00000455250:exon1:c.C90T:p.A30A Score=493;Name=lod=135 NA 15q15.3 NA Name=CTCF,E2F6_(H-50),GATA-1,Pol2,Egr-1 Name=24 NA rs2411284 0.57 0.57 0.518 0.549121 0.7127 0.6944 0.7003 0.1755 0.6288 0.71 0.63 0.68 0.18 0.6743 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761729 NA NA 0.724729 0.324202 ID=COSM433931;OCCURENCE=1(breast) 0.37 NA 6.5549376 997 6 32427735 32427735 G T intergenic HLA-DRA,HLA-DRB5 dist=14909;dist=57419 NA NA ncRNA_exonic ENSG00000196301 NA NA NA NA NA 6p21.32 Score=785;Name=V$TAXCREB_01 Name=Pol2,HA-E2F1,c-Myc Name=6 NA rs28732234 0.12 0.12 0.095 0.121006 0.1789 0.0526 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 0.1247 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176318 NA NA 0.141888 0.09532 NA 0.13 NA 6.554512 997 15 90188392 90188392 A T exonic KIF7 NA synonymous SNV KIF7:NM_198525:exon10:c.T2043A:p.V681V exonic ENSG00000166813 NA synonymous SNV ENSG00000166813:ENST00000394412:exon10:c.T2043A:p.V681V NA NA 15q26.1 NA NA NA NA rs72750755 0.01 0.01 0.01 0.0179712 0.0338 NA 0.0187 NA 0.044 0.03 NA 0.02 NA 0.0363 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577856 NA NA 0.042335 0.0075 NA 0.036 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117416.2|RCV000126512.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.5542316 997 11 4790605 4790605 A G exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.T543C:p.C181C exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.T543C:p.C181C,ENSG00000188069:ENST00000380383:exon1:c.T564C:p.C188C Score=358;Name=lod=38 NA 11p15.4 NA NA NA NA rs112024216 0.03 0.03 0.018 0.0153754 0.0487 NA 0.0389 0.0008 NA 0.05 NA 0.06 NA 0.0255 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.045446 NA NA 0.038506 0.008405 NA 0.08 NA 6.5539606 997 19 57955244 57955244 A G exonic ZNF749 NA nonsynonymous SNV ZNF749:NM_001023561:exon3:c.A728G:p.Q243R exonic ENSG00000186230 NA nonsynonymous SNV ENSG00000186230:ENST00000334181:exon3:c.A728G:p.Q243R NA NA 19q13.43 NA NA NA NA rs12986235 0.21 0.21 0.2 0.199281 0.2883 0.0913 0.1931 0.2428 0.1646 0.28 0.07 0.25 0.22 0.224 0.28 0.18 T 0.053 B 0.012 B . . 1.000 P 1.705 L 2.36 T -0.960 T 0.000 T 0.03 2.333 13.76 -0.122 -0.268 -0.861 2.791 2.333168 2.333168 0.11 0.267093 0.244666 NA 0.196 NA 6.5539404 997 11 118772160 118772160 G A exonic BCL9L NA synonymous SNV BCL9L:NM_182557:exon6:c.C2292T:p.P764P exonic ENSG00000186174 NA synonymous SNV ENSG00000186174:ENST00000334801:exon6:c.C2292T:p.P764P Score=369;Name=lod=42 NA 11q23.3 NA NA NA NA rs61730467 0.03 0.03 0.026 0.0471246 0.0427 0.003 0.0418 0.0484 0.0992 0.04 NA 0.03 0.06 0.039 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225112 NA NA 0.031214 0.050682 NA 0.029 NA 6.5537526 997 9 130536484 130536484 C T exonic SH2D3C NA synonymous SNV SH2D3C:NM_170600:exon2:c.G300A:p.A100A exonic ENSG00000095370 NA synonymous SNV ENSG00000095370:ENST00000314830:exon2:c.G300A:p.A100A NA NA 9q34.11 NA Name=CTCF NA NA rs55932444 0.03 0.03 0.023 0.023762 0.0527 NA 0.036 0.0265 0.0061 0.05 NA 0.06 0.02 0.03 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386526 NA NA 0.030698 0.019292 NA 0.036 NA 6.5532686 997 6 29855978 29855978 G T ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341,ENSG00000230521 NA NA NA NA NA 6p22.1 NA Name=NFKB,Pol2-4H8,Pol2 Name=64 NA rs7768484 0.05 0.05 0.056 0.0615016 0.0497 0.0516 0.0317 0.059 0.1084 0.06 0.05 0.04 0.06 0.0639 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605834 NA NA NA NA NA 0.007 NA 6.5530666 997 19 12157507 12157507 G C exonic ZNF878 NA synonymous SNV ZNF878:NM_001080404:exon2:c.C72G:p.S24S exonic ENSG00000257355,ENSG00000257446 NA synonymous SNV ENSG00000257355:ENST00000547473:exon2:c.C72G:p.S24S,ENSG00000257446:ENST00000547628:exon2:c.C72G:p.S24S,ENSG00000257446:ENST00000602107:exon3:c.C213G:p.S71S Score=355;Name=lod=37 NA 19p13.2 NA NA NA NA rs11668160 0.02 0.02 0.016 0.013778 0.0368 NA 0.0159 0.0015 0.0194 0.04 NA 0.01 0.0041 0.033 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.377097 1.377097 NA 0.044186 0.01044 NA 0.007 NA 6.5526806 997 7 5036611 5036611 C G ncRNA_exonic RNF216P1 NA NA NA ncRNA_exonic ENSG00000196204 NA NA NA Score=551;Name=lod=231 NA 7p22.1 NA Name=CTCF,CTCF_(SC-5916) NA NA rs9639891 0.15 0.15 0.138 0.140575 0.1143 0.253 0.17 0.0605 0.1391 0.11 0.27 0.18 0.06 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079541 NA NA NA NA ID=COSN167952;OCCURENCE=1(large_intestine) 0.08 NA 6.5523666 997 12 52200742 52200742 C A exonic SCN8A NA synonymous SNV SCN8A:NM_001177984:exon26:c.C5349A:p.P1783P,SCN8A:NM_014191:exon27:c.C5472A:p.P1824P exonic ENSG00000196876 NA synonymous SNV ENSG00000196876:ENST00000545061:exon25:c.C5349A:p.P1783P,ENSG00000196876:ENST00000354534:exon27:c.C5472A:p.P1824P Score=583;Name=lod=311 NA 12q13.13 Score=841;Name=V$MRF2_01 NA NA NA rs60637 0.57 0.57 0.507 0.489018 0.7276 0.5665 0.7464 0.2526 0.3006 0.72 0.52 0.71 0.29 0.6416 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374588 NA NA 0.745593 0.327757 NA 0.457 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118287.2;CLNDSDB=.;CLNDSDBID=. 6.5518736 997 11 43913604 43913604 G A exonic ALKBH3 NA synonymous SNV ALKBH3:NM_139178:exon7:c.G384A:p.Q128Q exonic ENSG00000166199 NA synonymous SNV ENSG00000166199:ENST00000529366:exon6:c.G381A:p.Q127Q,ENSG00000166199:ENST00000302708:exon7:c.G384A:p.Q128Q Score=628;Name=lod=474 NA 11p11.2 NA NA NA NA rs16937692 0.06 0.06 0.035 0.0605032 0.0268 0.0248 0.2046 0.0393 0.0583 0.02 0.03 0.19 0.04 0.0573 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918985 NA NA 0.030698 0.03291 NA 0.065 NA 6.5518686 997 8 19809435 19809435 G A exonic LPL NA synonymous SNV LPL:NM_000237:exon3:c.G405A:p.V135V exonic ENSG00000175445 NA synonymous SNV ENSG00000175445:ENST00000311322:exon3:c.G405A:p.V135V,ENSG00000175445:ENST00000520959:exon3:c.G177A:p.V59V Score=355;Name=lod=37 NA 8p21.3 NA NA NA NA rs1121923 0.05 0.05 0.064 0.0491214 0.0398 NA 0.0274 0.1392 0.0031 0.04 NA 0.03 0.15 0.0346 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606319 NA NA 0.04093 0.113936 NA 0.087 NA 6.5513366 997 2 239049602 239049602 C T exonic KLHL30 NA synonymous SNV KLHL30:NM_198582:exon2:c.C207T:p.S69S exonic ENSG00000168427 NA synonymous SNV ENSG00000168427:ENST00000305959:exon2:c.C153T:p.S51S,ENSG00000168427:ENST00000409223:exon2:c.C207T:p.S69S Score=419;Name=lod=67 NA 2q37.3 NA NA NA NA rs147827992 0.02 0.02 0.012 0.0129792 0.0467 NA 0.0231 NA 0.002 0.04 NA 0.03 NA 0.0304 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082441 NA NA 0.038516 0.007642 ID=COSM442576,COSM442577;OCCURENCE=1(breast) 0.051 NA 6.5510506 997 19 35510102 35510102 G C exonic GRAMD1A NA synonymous SNV GRAMD1A:NM_001136199:exon11:c.G1200C:p.T400T,GRAMD1A:NM_020895:exon12:c.G1221C:p.T407T exonic ENSG00000089351 NA synonymous SNV ENSG00000089351:ENST00000411896:exon11:c.G1200C:p.T400T,ENSG00000089351:ENST00000504615:exon11:c.G519C:p.T173T,ENSG00000089351:ENST00000317991:exon12:c.G1221C:p.T407T,ENSG00000089351:ENST00000599564:exon13:c.G1482C:p.T494T Score=433;Name=lod=77 NA 19q13.12 NA Name=Pol2 NA NA rs2290646 0.37 0.37 0.397 0.372804 0.3777 0.2212 0.3862 0.5484 0.2771 0.38 0.2 0.4 0.54 0.3674 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041204 NA NA 0.37057 0.513023 NA 0.391 NA 6.5509966 997 7 128415195 128415195 T G exonic OPN1SW NA synonymous SNV OPN1SW:NM_001708:exon2:c.A366C:p.G122G exonic ENSG00000128617 NA synonymous SNV ENSG00000128617:ENST00000249389:exon2:c.A366C:p.G122G Score=539;Name=lod=207 NA 7q32.1 NA Name=Pol2(b),Pol2-4H8 NA NA rs1799922 0.23 0.23 0.22 0.187101 0.4095 0.0675 0.2291 0.112 0.1534 0.41 0.06 0.26 0.13 0.3026 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.214075 NA NA 0.403605 0.147753 ID=COSM150388;OCCURENCE=1(stomach) 0.239 NA 6.5509616 997 3 49726028 49726028 T C intronic MST1 NA NA NA intronic ENSG00000173531 NA NA NA Score=289;Name=lod=20 NA 3p21.31 NA Name=CEBPB Name=2 NA rs62262685 NA NA 0.15 NA NA NA NA NA NA NA NA NA NA 0.4498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804257 NA NA NA NA NA NA NA 6.5502 997 11 33106616 33106616 C T UTR3 CSTF3 NM_001326:c.*17G>A NA NA exonic ENSG00000176148 NA stopgain ENSG00000176148:ENST00000324357:exon7:c.C1075T:p.Q359X,ENSG00000176148:ENST00000527661:exon12:c.C1738T:p.Q580X NA NA 11p13 NA NA NA NA rs3758741 0.27 0.27 0.269 0.229034 0.4026 0.2143 0.2464 0.1014 0.226 0.39 0.25 0.28 0.11 0.3165 0.4 0 D . . . . . . 0.961 P . . . . . . . . . 3.798 19.28 -1.19 -0.092 0.437 4.749 3.797736 3.797736 0 0.398325 0.144414 NA 0.304 NA 6.5492417 997 6 29694570 29694570 A G ncRNA_exonic HLA-F-AS1 NA NA NA ncRNA_exonic ENSG00000214922,ENSG00000239257 NA NA NA Score=737;Name=lod=1318 NA 6p22.1 NA Name=Pol2-4H8 NA NA rs3734813 0.19 0.19 0.187 0.230831 0.1183 0.2917 0.1628 0.2632 0.2883 0.12 0.27 0.15 0.24 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717631 NA NA NA NA NA 0.232 NA 6.5483666 997 15 52901914 52901914 T C exonic FAM214A NA synonymous SNV FAM214A:NM_019600:exon6:c.A1197G:p.Q399Q exonic ENSG00000047346 NA synonymous SNV ENSG00000047346:ENST00000399202:exon5:c.A933G:p.Q311Q,ENSG00000047346:ENST00000546305:exon5:c.A1218G:p.Q406Q,ENSG00000047346:ENST00000261844:exon6:c.A1197G:p.Q399Q,ENSG00000047346:ENST00000534964:exon6:c.A1197G:p.Q399Q Score=265;Name=lod=16 NA 15q21.3 NA NA NA NA rs3751613 0.08 0.08 0.082 0.0766773 0.0328 0.2073 0.036 0.0492 0.0532 0.03 0.22 0.03 0.05 0.0533 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011808 NA NA 0.032401 0.040961 NA 0.043 NA 6.5481656 997 20 5753579 5753579 C T exonic C20orf196 NA nonsynonymous SNV C20orf196:NM_152504:exon2:c.C68T:p.A23V exonic ENSG00000171984 NA nonsynonymous SNV ENSG00000171984:ENST00000303142:exon2:c.C68T:p.A23V,ENSG00000171984:ENST00000378979:exon2:c.C68T:p.A23V,ENSG00000171984:ENST00000442185:exon3:c.C209T:p.A70V,ENSG00000171984:ENST00000445603:exon3:c.C68T:p.A23V NA NA 20p12.3 NA NA NA NA rs237422 0.25 0.25 0.231 0.234026 0.2604 0.1518 0.2507 0.2958 0.1963 0.26 0.16 0.29 0.32 0.2495 0.32 0.96 T 0.002 B 0.005 B 0.840 N 1.000 P -0.205 N 1.24 T -0.950 T 0.000 T 0.068 -2.095 0.006 1.73 -0.095 0.551 10.101 -2.095195 NA 0.69 0.275581 0.267817 ID=COSM149133;OCCURENCE=1(stomach) 0.341 NA 6.5478524 997 6 46976924 46976924 G A exonic GPR110 NA synonymous SNV GPR110:NM_153840:exon11:c.C2247T:p.V749V exonic ENSG00000153292 NA synonymous SNV ENSG00000153292:ENST00000283297:exon5:c.C1656T:p.V552V,ENSG00000153292:ENST00000371253:exon11:c.C2247T:p.V749V Score=321;Name=lod=27 NA 6p12.3 NA NA NA NA rs45511696 0.04 0.04 0.043 0.0371406 0.0447 NA 0.0389 0.0787 0.0102 0.04 NA 0.04 0.09 0.0364 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253388 NA NA 0.03814 0.085111 NA 0.058 NA 6.5474266 997 7 16816000 16816000 T C exonic TSPAN13 NA synonymous SNV TSPAN13:NM_014399:exon2:c.T228C:p.F76F exonic ENSG00000106537 NA synonymous SNV ENSG00000106537:ENST00000262067:exon2:c.T228C:p.F76F Score=478;Name=lod=117 NA 7p21.1 Score=836;Name=V$MEF2_04 NA NA NA rs2290837 0.36 0.36 0.354 0.338259 0.3926 0.2024 0.3487 0.4766 0.228 0.4 0.21 0.36 0.49 0.3457 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.353574 1.353574 NA 0.381279 0.455969 NA 0.42 NA 6.5470876 997 13 28009920 28009920 G C exonic MTIF3 NA nonsynonymous SNV MTIF3:NM_001166261:exon5:c.C729G:p.F243L,MTIF3:NM_001166262:exon5:c.C729G:p.F243L,MTIF3:NM_152912:exon5:c.C729G:p.F243L,MTIF3:NM_001166263:exon6:c.C729G:p.F243L exonic ENSG00000122033 NA nonsynonymous SNV ENSG00000122033:ENST00000381120:exon5:c.C729G:p.F243L,ENSG00000122033:ENST00000405591:exon5:c.C729G:p.F243L,ENSG00000122033:ENST00000431572:exon6:c.C729G:p.F243L,ENSG00000122033:ENST00000381116:exon7:c.C729G:p.F243L Score=295;Name=lod=21 NA 13q12.2 NA NA NA NA rs1218825 0.8 0.8 0.833 0.816893 0.9483 0.5794 0.683 0.8903 0.9223 0.95 0.56 0.76 0.9 0.8806 0.96 1 T 0.0 B 0.0 B 0.012 N 1.000 P -1.7 N 1.77 T -0.961 T 0.000 T 0.032 -1.078 0.164 3.0 -0.114 0.457 10.075 -1.078298 NA 1 0.957907 0.908761 NA 0.79 NA 6.5465264 997 22 42905055 42905055 G A ncRNA_exonic SERHL NA NA NA ncRNA_exonic ENSG00000172250 NA NA NA NA NA 22q13.2 NA Name=Pol2,Pol2-4H8 Name=4 NA rs56365446 0.09 0.09 0.04 NA NA NA NA NA NA 0.11 0.03 0.17 0.06 0.1206 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.354162 NA NA NA NA NA 0.072 NA 6.5460666 997 1 99753631 99753631 G A exonic LPPR4 NA synonymous SNV LPPR4:NM_001166252:exon2:c.G333A:p.P111P,LPPR4:NM_014839:exon2:c.G333A:p.P111P exonic ENSG00000117600 NA synonymous SNV ENSG00000117600:ENST00000370185:exon2:c.G333A:p.P111P,ENSG00000117600:ENST00000457765:exon2:c.G333A:p.P111P Score=616;Name=lod=424 NA 1p21.2 NA NA NA NA rs35121076 0.06 0.06 0.067 0.0750799 0.0348 0.128 0.0562 0.0477 0.1125 0.03 0.13 0.05 0.06 0.0538 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.439218 1.439218 NA 0.032209 0.049932 NA 0.051 NA 6.5458576 997 17 38173143 38173143 G A exonic CSF3 NA synonymous SNV CSF3:NM_001178147:exon4:c.G438A:p.L146L,CSF3:NM_172220:exon4:c.G447A:p.L149L,CSF3:NM_000759:exon5:c.G555A:p.L185L,CSF3:NM_172219:exon5:c.G546A:p.L182L exonic ENSG00000108342 NA synonymous SNV ENSG00000108342:ENST00000577675:exon3:c.G426A:p.L142L,ENSG00000108342:ENST00000331769:exon4:c.G534A:p.L178L,ENSG00000108342:ENST00000394148:exon4:c.G447A:p.L149L,ENSG00000108342:ENST00000583218:exon4:c.G438A:p.L146L,ENSG00000108342:ENST00000225474:exon5:c.G555A:p.L185L,ENSG00000108342:ENST00000394149:exon5:c.G546A:p.L182L Score=284;Name=lod=19 NA 17q21.1 Score=823;Name=V$GRE_C NA NA NA rs25645 0.32 0.32 0.3 0.313698 0.3668 0.4276 0.4135 0.0514 0.4254 0.36 0.41 0.41 0.07 0.3816 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311292 NA NA 0.372442 0.098048 NA 0.348 NA 6.5458246 998 11 4843164 4843164 C T exonic OR51F2 NA synonymous SNV OR51F2:NM_001004753:exon1:c.C549T:p.C183C exonic ENSG00000176925 NA synonymous SNV ENSG00000176925:ENST00000322110:exon1:c.C549T:p.C183C Score=325;Name=lod=28 NA 11p15.4 NA NA NA NA rs113211514 0.03 0.03 0.024 0.0163738 0.0527 NA 0.0403 0.0008 NA 0.05 NA 0.06 0.002 0.0283 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011847 NA NA 0.040717 0.008632 NA 0.08 NA 6.5449496 998 10 25313818 25313818 C T exonic THNSL1 NA synonymous SNV THNSL1:NM_024838:exon3:c.C1666T:p.L556L exonic ENSG00000185875 NA synonymous SNV ENSG00000185875:ENST00000376356:exon3:c.C1666T:p.L556L,ENSG00000185875:ENST00000524413:exon3:c.C1666T:p.L556L Score=649;Name=lod=579 NA 10p12.1 Score=886;Name=V$POU3F2_02 NA NA NA rs7086282 0.49 0.49 0.493 0.508986 0.3459 0.4861 0.5389 0.6936 0.4294 0.35 0.49 0.51 0.69 0.4221 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.067204 NA NA 0.353953 0.638448 ID=COSM146908;OCCURENCE=1(stomach) 0.522 NA 6.5447136 998 3 14939479 14939479 G T exonic FGD5 NA synonymous SNV FGD5:NM_152536:exon6:c.G2943T:p.L981L exonic ENSG00000154783 NA synonymous SNV ENSG00000154783:ENST00000285046:exon6:c.G2943T:p.L981L,ENSG00000154783:ENST00000543601:exon6:c.G2220T:p.L740L Score=355;Name=lod=37 NA 3p25.1 NA NA NA NA rs2164356 0.67 0.67 0.671 0.680511 0.7068 0.5942 0.6859 0.7587 0.6329 0.7 0.56 0.69 0.74 0.6915 0.76 . . . . . . . . 0.000 P . . . . -1.007 T 0.000 T . 1.169 9.758 1.83 1.063 0.915 2.912 1.169378 NA NA 0.723678 0.758695 NA 0.667 NA 6.5446886 998 6 12123049 12123049 G A exonic HIVEP1 NA synonymous SNV HIVEP1:NM_002114:exon4:c.G3021A:p.Q1007Q exonic ENSG00000095951 NA synonymous SNV ENSG00000095951:ENST00000379388:exon4:c.G3021A:p.Q1007Q Score=346;Name=lod=34 NA 6p24.1 NA NA NA NA rs2228219 0.04 0.04 0.042 0.0499201 0.0408 0.0248 0.049 0.0855 0.0378 0.04 0.02 0.06 0.07 0.0422 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.698642 NA NA 0.039 0.074055 NA 0.036 NA 6.5446666 998 17 38643385 38643385 G A exonic TNS4 NA synonymous SNV TNS4:NM_032865:exon4:c.C1191T:p.S397S exonic ENSG00000131746 NA synonymous SNV ENSG00000131746:ENST00000254051:exon4:c.C1191T:p.S397S NA NA 17q21.2 NA Name=AP-2alpha,Pol2 NA NA rs8071312 0.06 0.06 0.064 0.0551118 0.0447 0.001 0.0346 0.1498 0.0082 0.04 NA 0.03 0.18 0.0385 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.465401 NA NA 0.040581 0.147299 NA 0.051 NA 6.5428856 998 17 38179492 38179492 A G exonic MED24 NA synonymous SNV MED24:NM_001079518:exon19:c.T2103C:p.I701I,MED24:NM_001267797:exon19:c.T2103C:p.I701I,MED24:NM_014815:exon20:c.T2142C:p.I714I exonic ENSG00000008838 NA synonymous SNV ENSG00000008838:ENST00000356271:exon19:c.T2103C:p.I701I,ENSG00000008838:ENST00000394126:exon19:c.T2217C:p.I739I,ENSG00000008838:ENST00000394127:exon19:c.T2103C:p.I701I,ENSG00000008838:ENST00000535071:exon19:c.T1992C:p.I664I,ENSG00000008838:ENST00000394128:exon20:c.T2142C:p.I714I,ENSG00000008838:ENST00000501516:exon20:c.T2199C:p.I733I Score=603;Name=lod=376 Name=Multiple myeloma (hyperdiploidy) 17q21.1 NA NA NA NA rs2302777 0.32 0.32 0.291 0.314497 0.3668 0.4226 0.4135 0.0537 0.4315 0.36 0.41 0.41 0.07 0.382 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.219966 NA NA 0.375 0.104857 NA 0.355 NA 6.5428666 998 1 162344102 162344102 C T exonic C1orf111 NA synonymous SNV C1orf111:NM_182581:exon3:c.G522A:p.R174R exonic ENSG00000171722 NA synonymous SNV ENSG00000171722:ENST00000367935:exon3:c.G522A:p.R174R Score=272;Name=lod=17 NA 1q23.3 NA NA Name=3 NA rs2282397 0.38 0.38 0.371 0.340455 0.3817 0.5089 0.4222 0.1634 0.3057 0.39 0.51 0.4 0.18 0.3674 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144955 NA NA 0.375349 0.21902 NA 0.268 NA 6.5422176 998 4 48172266 48172266 G A exonic TEC NA synonymous SNV TEC:NM_003215:exon5:c.C453T:p.S151S exonic ENSG00000135605 NA synonymous SNV ENSG00000135605:ENST00000381501:exon5:c.C453T:p.S151S Score=648;Name=lod=573 NA 4p12 Score=894;Name=V$NKX3A_01 NA NA NA rs2271173 0.52 0.52 0.51 0.520767 0.3579 0.8929 0.4942 0.3381 0.5706 0.36 0.92 0.45 0.36 0.4227 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571884 NA NA 0.344245 0.335 NA 0.457 NA 6.5418216 998 12 11061122 11061122 T C exonic TAS2R13 NA nonsynonymous SNV TAS2R13:NM_023920:exon1:c.A776G:p.N259S exonic ENSG00000212128 NA nonsynonymous SNV ENSG00000212128:ENST00000390677:exon1:c.A776G:p.N259S NA NA 12p13.2 NA NA NA NA rs1015443 0.54 0.54 0.498 0.520367 0.6243 0.7242 0.5908 0.1528 0.6503 0.62 0.72 0.61 0.16 0.5853 0.72 0.34 T 0.04 B 0.129 B 0.788 N 1.000 P 0.285 N 5.73 T -1.154 T 0.000 T 0.055 0.067 4.365 0.219 -0.077 -1.097 4.853 0.067332 NA 1 0.581977 0.219473 NA 0.449 NA 6.5417564 998 15 31117210 31117210 G A ncRNA_intronic HERC2P10 NA NA NA ncRNA_intronic ENSG00000259845 NA NA NA Score=423;Name=lod=70 NA 15q13.2 NA NA Name=5 NA rs798126 0.15 0.15 0.155 0.165535 0.1252 0.0278 0.1124 0.3865 0.0879 0.12 0.03 0.14 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304552 NA NA NA NA NA 0.109 NA 6.5414666 998 10 101657880 101657880 G A exonic DNMBP NA synonymous SNV DNMBP:NM_015221:exon9:c.C2883T:p.N961N exonic ENSG00000107554 NA synonymous SNV ENSG00000107554:ENST00000543621:exon6:c.C621T:p.N207N,ENSG00000107554:ENST00000324109:exon9:c.C2883T:p.N961N,ENSG00000107554:ENST00000342239:exon9:c.C2883T:p.N961N Score=584;Name=lod=314 NA 10q24.2 NA NA NA Score=78;Name=315415_0_+_78 rs7919323 0.28 0.28 0.252 0.274561 0.3946 0.2183 0.3256 0.1589 0.3292 0.38 0.22 0.36 0.13 0.3455 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.278688 1.278688 NA 0.386279 0.201997 NA 0.312 NA 6.5402876 998 4 187628054 187628054 C G exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon2:c.G2928C:p.V976V exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon2:c.G2928C:p.V976V Score=469;Name=lod=107 NA 4q35.2 NA NA NA NA rs114279527 0.02 0.02 0.025 0.0241613 0.0517 NA 0.0274 NA 0.0511 0.05 NA 0.03 NA 0.0338 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.17193 NA NA 0.042574 0.007467 NA 0.029 NA 6.5385926 998 10 100147060 100147060 A G exonic PYROXD2 NA synonymous SNV PYROXD2:NM_032709:exon14:c.T1452C:p.F484F exonic ENSG00000119943 NA synonymous SNV ENSG00000119943:ENST00000370575:exon14:c.T1452C:p.F484F Score=511;Name=lod=159 Name=Metabolite levels 10q24.2 NA NA NA NA rs4345897 0.48 0.48 0.468 0.521166 0.334 0.5615 0.4755 0.6422 0.5409 0.34 0.57 0.45 0.63 0.4406 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306818 NA NA 0.35407 0.584203 NA 0.391 NA 6.5379966 998 4 153896765 153896765 G C exonic FHDC1 NA synonymous SNV FHDC1:NM_033393:exon11:c.G2322C:p.S774S exonic ENSG00000137460 NA synonymous SNV ENSG00000137460:ENST00000260008:exon11:c.G2322C:p.S774S,ENSG00000137460:ENST00000511601:exon12:c.G2322C:p.S774S Score=440;Name=lod=82 NA 4q31.3 NA NA NA NA rs7688776 0.07 0.07 0.066 0.0567093 0.0427 0.0298 0.0317 0.1233 0.0266 0.05 0.04 0.04 0.14 0.0463 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975064 NA NA 0.040233 0.110304 NA 0.101 NA 6.5374336 998 11 6655433 6655433 G A exonic DCHS1 NA synonymous SNV DCHS1:NM_003737:exon3:c.C1902T:p.H634H exonic ENSG00000166341 NA synonymous SNV ENSG00000166341:ENST00000299441:exon3:c.C1902T:p.H634H Score=489;Name=lod=129 NA 11p15.4 Score=787;Name=V$HTF_01 NA NA NA rs997263 0.37 0.37 0.352 0.346446 0.3777 0.4296 0.3631 0.2572 0.3374 0.39 0.46 0.37 0.23 0.375 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725361 NA NA 0.376862 0.290095 NA 0.435 NA 6.5371046 998 4 187454951 187454951 T C exonic MTNR1A NA synonymous SNV MTNR1A:NM_005958:exon2:c.A945G:p.T315T exonic ENSG00000168412 NA synonymous SNV ENSG00000168412:ENST00000307161:exon2:c.A945G:p.T315T Score=346;Name=lod=34 NA 4q35.2 NA NA NA NA rs8192551 0.06 0.06 0.065 0.0666933 0.0408 0.0784 0.049 0.1135 0.0307 0.04 0.09 0.06 0.08 0.0439 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942545 NA NA 0.045 0.107354 NA 0.109 NA 6.5369666 998 14 64496763 64496763 T C exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon44:c.T6865C:p.L2289L,SYNE2:NM_182914:exon44:c.T6865C:p.L2289L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000554584:exon43:c.T6865C:p.L2289L,ENSG00000054654:ENST00000344113:exon44:c.T6865C:p.L2289L,ENSG00000054654:ENST00000358025:exon44:c.T6865C:p.L2289L NA NA 14q23.2 NA NA NA NA rs11850509 0.08 0.08 0.076 0.0880591 0.0298 0.0575 0.0893 0.1891 0.0419 0.03 0.06 0.09 0.17 0.0577 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525687 NA NA 0.043585 0.140907 NA 0.087 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118545.1;CLNDSDB=.;CLNDSDBID=. 6.5355816 998 15 89169653 89169653 G A exonic AEN NA synonymous SNV AEN:NM_022767:exon2:c.G213A:p.A71A exonic ENSG00000181026 NA synonymous SNV ENSG00000181026:ENST00000332810:exon2:c.G213A:p.A71A,ENSG00000181026:ENST00000379231:exon2:c.G213A:p.A71A,ENSG00000181026:ENST00000559528:exon2:c.G213A:p.A71A NA NA 15q26.1 NA Name=Pol2 NA NA rs34649587 0.03 0.03 0.033 0.0403355 0.0457 0.002 0.0245 0.0461 0.0777 0.05 0.0017 0.03 0.03 0.0447 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24588 NA NA 0.041075 0.040719 NA 0.087 NA 6.5351916 998 18 23872235 23872235 A G exonic TAF4B NA nonsynonymous SNV TAF4B:NM_005640:exon8:c.A1616G:p.N539S exonic ENSG00000141384 NA nonsynonymous SNV ENSG00000141384:ENST00000269142:exon8:c.A1616G:p.N539S,ENSG00000141384:ENST00000400466:exon8:c.A1616G:p.N539S,ENSG00000141384:ENST00000418698:exon8:c.A1616G:p.N539S,ENSG00000141384:ENST00000578121:exon8:c.A1631G:p.N544S NA NA 18q11.2 NA NA NA NA rs12963653 0.15 0.15 0.143 0.121605 0.2913 0.0546 0.1268 0.056 0.1012 0.3 0.04 0.13 0.06 0.2186 0.3 0.82 T 0.0 B 0.001 B 0.509 N 1.000 P 0.55 N 2.01 T -0.964 T 0.000 T 0.008 0.986 9.026 -1.79 -0.301 0.474 2.737 0.986046 NA 0.22 0.288289 0.093914 NA 0.188 NA 6.5351444 999 22 46794475 46794475 T C exonic CELSR1 NA synonymous SNV CELSR1:NM_014246:exon11:c.A5472G:p.G1824G exonic ENSG00000075275 NA synonymous SNV ENSG00000075275:ENST00000262738:exon11:c.A5472G:p.G1824G Score=336;Name=lod=31 NA 22q13.31 NA NA NA NA rs45604542 0.02 0.02 0.015 0.0195687 0.0487 NA 0.0288 0.0053 0.0225 0.04 NA 0.03 0.01 0.0365 0.048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487023 NA NA 0.047674 0.010894 NA 0.022 NA 6.5337926 999 6 100964158 100964158 G A exonic ASCC3 NA synonymous SNV ASCC3:NM_006828:exon39:c.C5973T:p.T1991T exonic ENSG00000112249 NA synonymous SNV ENSG00000112249:ENST00000369162:exon39:c.C5973T:p.T1991T Score=343;Name=lod=33 NA 6q16.3 NA NA NA NA rs33988845 0.04 0.04 0.037 0.0397364 0.0477 NA 0.0447 0.0779 0.0174 0.05 NA 0.05 0.07 0.042 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01331 NA NA 0.044419 0.056287 NA 0.072 NA 6.5325476 999 6 139488160 139488160 C T exonic HECA NA synonymous SNV HECA:NM_016217:exon2:c.C1011T:p.F337F exonic ENSG00000112406 NA synonymous SNV ENSG00000112406:ENST00000367658:exon2:c.C1011T:p.F337F NA NA 6q24.1 Score=849;Name=V$GR_Q6 NA NA NA rs34476011 0.03 0.03 0.03 0.0361422 0.0467 NA 0.036 0.0635 0.0256 0.04 NA 0.05 0.06 0.0388 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790854 NA NA 0.048721 0.065365 NA 0.022 NA 6.5324456 999 8 19316086 19316086 G A exonic CSGALNACT1 NA synonymous SNV CSGALNACT1:NM_001130518:exon5:c.C702T:p.H234H,CSGALNACT1:NM_018371:exon5:c.C702T:p.H234H exonic ENSG00000147408 NA synonymous SNV ENSG00000147408:ENST00000522854:exon3:c.C702T:p.H234H,ENSG00000147408:ENST00000311540:exon4:c.C702T:p.H234H,ENSG00000147408:ENST00000397998:exon4:c.C702T:p.H234H,ENSG00000147408:ENST00000519222:exon4:c.C702T:p.H234H,ENSG00000147408:ENST00000544602:exon4:c.C702T:p.H234H,ENSG00000147408:ENST00000332246:exon5:c.C702T:p.H234H,ENSG00000147408:ENST00000454498:exon5:c.C702T:p.H234H Score=346;Name=lod=34 NA 8p21.3 NA Name=GATA-2,TCF4 NA NA rs12155539 0.47 0.47 0.456 0.458866 0.3519 0.8581 0.5576 0.1997 0.4376 0.34 0.85 0.51 0.21 0.4217 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936389 NA NA 0.36093 0.221743 ID=COSM1455949;OCCURENCE=1(large_intestine) 0.29 NA 6.5321366 999 10 14976414 14976414 G A exonic DCLRE1C NA synonymous SNV DCLRE1C:NM_022487:exon7:c.C298T:p.L100L,DCLRE1C:NM_001033855:exon8:c.C643T:p.L215L,DCLRE1C:NM_001033857:exon9:c.C283T:p.L95L,DCLRE1C:NM_001033858:exon10:c.C283T:p.L95L exonic ENSG00000152457 NA synonymous SNV ENSG00000152457:ENST00000357717:exon6:c.C298T:p.L100L,ENSG00000152457:ENST00000378249:exon6:c.C298T:p.L100L,ENSG00000152457:ENST00000378246:exon7:c.C298T:p.L100L,ENSG00000152457:ENST00000378278:exon8:c.C643T:p.L215L,ENSG00000152457:ENST00000378289:exon8:c.C643T:p.L215L,ENSG00000152457:ENST00000453695:exon8:c.C283T:p.L95L,ENSG00000152457:ENST00000378254:exon9:c.C283T:p.L95L,ENSG00000152457:ENST00000378258:exon9:c.C283T:p.L95L,ENSG00000152457:ENST00000418843:exon9:c.C205T:p.L69L,ENSG00000152457:ENST00000378255:exon10:c.C283T:p.L95L,ENSG00000152457:ENST00000396817:exon10:c.C283T:p.L95L Score=550;Name=lod=229 NA 10p13 NA NA NA NA rs7076862 0.41 0.41 0.409 0.5 0.3638 0.3929 0.428 0.6944 0.5389 0.31 0.39 0.37 0.62 0.4187 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290715 1.290715 NA 0.352791 0.638901 NA 0.384 CLINSIG=non-pathogenic;CLNDBN=Severe_combined_immunodeficiency_disease;CLNREVSTAT=single;CLNACC=RCV000029658.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0085110:31323000 6.5313756 999 17 4718776 4718776 G A exonic PLD2 NA synonymous SNV PLD2:NM_001243108:exon13:c.G1179A:p.E393E,PLD2:NM_002663:exon13:c.G1179A:p.E393E exonic ENSG00000129219 NA synonymous SNV ENSG00000129219:ENST00000263088:exon13:c.G1179A:p.E393E,ENSG00000129219:ENST00000572940:exon13:c.G1179A:p.E393E Score=470;Name=lod=108 NA 17p13.2 NA Name=CTCF_(SC-5916),CTCF_(C-20),Rad21,CTCF Name=21 NA rs1132448 0.63 0.63 0.597 0.6252 0.7028 0.6349 0.7435 0.388 0.772 0.72 0.63 0.75 0.42 0.7128 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474111 NA NA 0.720116 0.445302 NA 0.674 NA 6.5309506 999 22 46664431 46664431 C G exonic TTC38 NA synonymous SNV TTC38:NM_017931:exon2:c.C54G:p.L18L exonic ENSG00000075234 NA synonymous SNV ENSG00000075234:ENST00000381031:exon2:c.C54G:p.L18L,ENSG00000075234:ENST00000417709:exon2:c.C54G:p.L18L,ENSG00000075234:ENST00000421359:exon2:c.C54G:p.L18L,ENSG00000075234:ENST00000445282:exon2:c.C54G:p.L18L NA NA 22q13.31 NA Name=E2F6_(H-50) NA NA rs9627359 0.12 0.12 0.122 0.148363 0.0358 0.001 0.062 0.4788 0.0307 0.02 NA 0.07 0.45 0.0645 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320612 1.320612 NA 0.035581 0.402328 NA 0.181 NA 6.5307856 999 13 23824783 23824783 T G exonic SGCG NA synonymous SNV SGCG:NM_000231:exon4:c.T312G:p.L104L exonic ENSG00000102683 NA synonymous SNV ENSG00000102683:ENST00000218867:exon4:c.T312G:p.L104L,ENSG00000102683:ENST00000537476:exon5:c.T312G:p.L104L,ENSG00000102683:ENST00000545013:exon5:c.T312G:p.L104L Score=374;Name=lod=44 NA 13q12.12 NA NA NA NA rs1800351 0.52 0.52 0.532 0.52476 0.333 0.7014 0.4236 0.7035 0.3701 0.35 0.69 0.38 0.67 0.4343 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512271 NA NA 0.368605 0.671357 NA 0.543 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078404.2;CLNDSDB=.;CLNDSDBID=. 6.5307616 999 16 31384648 31384648 C T exonic ITGAX NA synonymous SNV ITGAX:NM_000887:exon20:c.C2445T:p.Y815Y exonic ENSG00000140678 NA synonymous SNV ENSG00000140678:ENST00000268296:exon20:c.C2445T:p.Y815Y,ENSG00000140678:ENST00000562522:exon20:c.C2445T:p.Y815Y Score=387;Name=lod=50 NA 16p11.2 NA NA NA NA rs12448775 0.04 0.04 0.019 0.0401358 0.0388 0.001 0.183 0.0113 0.0194 0.04 0.0017 0.14 0.02 0.0578 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.985777 NA NA 0.040116 0.018662 NA 0.014 NA 6.5299506 999 7 150553605 150553605 C T exonic ABP1 NA nonsynonymous SNV ABP1:NM_001091:exon2:c.C47T:p.T16M,ABP1:NM_001272072:exon2:c.C47T:p.T16M exonic ENSG00000002726 NA nonsynonymous SNV ENSG00000002726:ENST00000360937:exon2:c.C47T:p.T16M,ENSG00000002726:ENST00000416793:exon2:c.C47T:p.T16M,ENSG00000002726:ENST00000460213:exon2:c.C47T:p.T16M,ENSG00000002726:ENST00000483043:exon3:c.C47T:p.T16M,ENSG00000002726:ENST00000467291:exon4:c.C47T:p.T16M,ENSG00000002726:ENST00000493429:exon4:c.C47T:p.T16M NA NA 7q36.1 NA NA NA NA rs10156191 0.29 0.29 0.302 0.312899 0.2654 0.122 0.2464 0.5613 0.2699 0.26 0.12 0.25 0.56 0.2713 0.56 0.25 T 0.001 B 0.001 B 0.158 N 1.000 P -0.895 N 4.4 T -0.914 T 0.000 T 0.271 0.99 9.043 -0.636 -0.572 0.182 10.143 0.99018 NA 0.13 0.266707 0.508273 NA 0.362 NA 6.5299264 999 11 118952173 118952173 A G exonic VPS11 NA unknown UNKNOWN exonic ENSG00000160695 NA nonsynonymous SNV ENSG00000160695:ENST00000300793:exon17:c.A2663G:p.K888R Score=589;Name=lod=329 NA 11q23.3 Score=1000;Name=V$NKX25_01 NA NA NA rs15818 0.34 0.34 0.363 0.354633 0.3618 0.2044 0.3343 0.4841 0.3415 0.35 0.17 0.35 0.51 0.3639 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.864465 2.864465 0.47 0.411292 0.465319 NA 0.42 NA 6.5296747 999 3 10065426 10065426 C T ncRNA_exonic CIDECP NA NA NA ncRNA_exonic ENSG00000186162 NA NA NA NA NA 3p25.3 NA Name=JunD,eGFP-JunB,c-Jun,BCL3 Name=97 NA rs6803517 0.2 0.2 0.219 0.208067 0.1372 0.0476 0.1657 0.4607 0.135 0.14 0.07 0.18 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789067 NA NA NA NA NA 0.355 NA 6.5294666 999 8 144999642 144999642 A C exonic PLEC NA synonymous SNV PLEC:NM_201378:exon31:c.T4413G:p.A1471A,PLEC:NM_201379:exon31:c.T4389G:p.A1463A,PLEC:NM_201380:exon31:c.T4866G:p.A1622A,PLEC:NM_201381:exon31:c.T4359G:p.A1453A,PLEC:NM_201382:exon31:c.T4455G:p.A1485A,PLEC:NM_201383:exon31:c.T4467G:p.A1489A,PLEC:NM_201384:exon31:c.T4455G:p.A1485A,PLEC:NM_000445:exon32:c.T4536G:p.A1512A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon31:c.T4866G:p.A1622A,ENSG00000178209:ENST00000345136:exon31:c.T4455G:p.A1485A,ENSG00000178209:ENST00000354589:exon31:c.T4455G:p.A1485A,ENSG00000178209:ENST00000354958:exon31:c.T4389G:p.A1463A,ENSG00000178209:ENST00000356346:exon31:c.T4413G:p.A1471A,ENSG00000178209:ENST00000357649:exon31:c.T4467G:p.A1489A,ENSG00000178209:ENST00000398774:exon31:c.T4359G:p.A1453A,ENSG00000178209:ENST00000527096:exon31:c.T4524G:p.A1508A,ENSG00000178209:ENST00000436759:exon32:c.T4536G:p.A1512A Score=399;Name=lod=56 NA 8q24.3 NA NA NA NA rs56117011 0.25 0.25 0.203 0.232628 0.4274 0.1429 0.2968 0.034 0.3476 0.42 0.16 0.3 0.04 0.3357 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485169 NA NA 0.37472 0.091067 NA 0.159 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078866.3;CLNDSDB=.;CLNDSDBID=. 6.5288466 999 3 10067794 10067794 A G ncRNA_exonic CIDECP NA NA NA ncRNA_exonic ENSG00000186162 NA NA NA Score=646;Name=lod=564 NA 3p25.3 Score=699;Name=V$BRACH_01 NA NA NA rs35993975 0.13 0.13 0.108 0.128994 0.1382 0.0476 0.1427 0.1747 0.1319 0.15 0.07 0.16 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.09123 NA NA NA NA NA 0.254 NA 6.5284666 999 4 16258155 16258155 G A ncRNA_exonic TAPT1-AS1 NA NA NA ncRNA_exonic ENSG00000242358,ENSG00000263327 NA NA NA Score=325;Name=lod=28 NA 4p15.32 NA Name=CTCF_(SC-5916) NA NA rs2940 0.12 0.12 0.109 0.138778 0.1382 0.0109 0.1556 0.233 0.1319 0.15 0.01 0.16 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.454823 1.454823 NA NA NA NA 0.08 NA 6.5284666 999 2 179650701 179650701 C T exonic TTN NA synonymous SNV TTN:NM_003319:exon13:c.G2106A:p.E702E,TTN:NM_133432:exon13:c.G2106A:p.E702E,TTN:NM_133437:exon13:c.G2106A:p.E702E,TTN:NM_001256850:exon14:c.G2244A:p.E748E,TTN:NM_001267550:exon14:c.G2244A:p.E748E,TTN:NM_133378:exon14:c.G2244A:p.E748E,TTN:NM_133379:exon14:c.G2244A:p.E748E exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000342175:exon13:c.G2106A:p.E702E,ENSG00000155657:ENST00000359218:exon13:c.G2106A:p.E702E,ENSG00000155657:ENST00000460472:exon13:c.G2106A:p.E702E,ENSG00000155657:ENST00000342992:exon14:c.G2244A:p.E748E,ENSG00000155657:ENST00000360870:exon14:c.G2244A:p.E748E,ENSG00000155657:ENST00000589042:exon14:c.G2244A:p.E748E,ENSG00000155657:ENST00000591111:exon14:c.G2244A:p.E748E Score=284;Name=lod=19 NA 2q31.2 NA NA NA NA rs6715406 0.23 0.23 0.223 0.204673 0.4135 0.0685 0.1916 0.1445 0.2209 0.42 0.06 0.23 0.15 0.3192 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439581 NA NA 0.405698 0.199955 NA 0.304 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040044.2|RCV000125846.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.5282686 999 6 122001385 122001385 C G intergenic GJA1,HSF2 dist=230512;dist=719311 NA NA ncRNA_exonic ENSG00000219135 NA NA NA Score=722;Name=lod=1141 NA 6q22.31 NA Name=CTCF Name=4 NA rs9320839 0.42 0.42 0.361 0.384385 0.4722 0.4663 0.3458 0.3328 0.3067 0.45 0.49 0.36 0.32 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.738823 2.738823 NA NA NA NA 0.435 NA 6.5278 999 15 56032872 56032872 G A exonic PRTG NA synonymous SNV PRTG:NM_173814:exon2:c.C105T:p.C35C exonic ENSG00000166450 NA synonymous SNV ENSG00000166450:ENST00000389286:exon2:c.C105T:p.C35C,ENSG00000166450:ENST00000561292:exon2:c.C105T:p.C35C Score=590;Name=lod=332 NA 15q21.3 NA NA NA NA rs77118243 0.02 0.02 0.015 0.0159744 0.0467 NA 0.0288 0.0023 0.0102 0.05 NA 0.03 0.0041 0.0376 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552943 NA NA 0.054795 0.012568 NA 0.043 NA 6.5275716 999 7 100064719 100064719 A G exonic TSC22D4 NA synonymous SNV TSC22D4:NM_030935:exon5:c.T1051C:p.L351L exonic ENSG00000166925 NA synonymous SNV ENSG00000166925:ENST00000300181:exon5:c.T1051C:p.L351L,ENSG00000166925:ENST00000393991:exon5:c.T334C:p.L112L Score=615;Name=lod=423 NA 7q22.1 Score=795;Name=V$STAT1_01 NA NA NA rs7806537 0.3 0.3 0.304 0.336262 0.3956 0.0972 0.2651 0.4478 0.4213 0.39 0.1 0.28 0.4 0.3572 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988372 NA NA 0.387558 0.436223 ID=COSM451970;OCCURENCE=1(breast) 0.355 NA 6.5263086 999 5 82789647 82789647 A G exonic VCAN NA synonymous SNV VCAN:NM_001126336:exon5:c.A645G:p.V215V,VCAN:NM_001164097:exon5:c.A645G:p.V215V,VCAN:NM_001164098:exon5:c.A645G:p.V215V,VCAN:NM_004385:exon5:c.A645G:p.V215V exonic ENSG00000038427 NA synonymous SNV ENSG00000038427:ENST00000265077:exon5:c.A645G:p.V215V,ENSG00000038427:ENST00000342785:exon5:c.A645G:p.V215V,ENSG00000038427:ENST00000343200:exon5:c.A645G:p.V215V,ENSG00000038427:ENST00000502527:exon5:c.A645G:p.V215V,ENSG00000038427:ENST00000512590:exon5:c.A501G:p.V167V,ENSG00000038427:ENST00000513960:exon5:c.A645G:p.V215V,ENSG00000038427:ENST00000513984:exon5:c.A645G:p.V215V Score=387;Name=lod=50 NA 5q14.2 NA NA Name=2 NA rs4470745 0.27 0.27 0.262 0.238419 0.4135 0.0893 0.281 0.2292 0.1943 0.41 0.08 0.31 0.23 0.321 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114722 NA NA 0.406163 0.241943 NA 0.283 NA 6.5260036 999 18 7023371 7023371 A G exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon19:c.T2493C:p.C831C exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon19:c.T2493C:p.C831C Score=525;Name=lod=182 NA 18p11.31 Score=865;Name=V$TAL1ALPHAE47_01 NA NA NA rs684634 0.43 0.43 0.444 0.4373 0.3807 0.1429 0.389 0.8533 0.271 0.39 0.17 0.35 0.83 0.3801 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193609 NA NA 0.379884 0.753291 ID=COSM1179774;OCCURENCE=1(prostate) 0.42 NA 6.5259826 999 13 20762956 20762956 A G UTR3 GJB2 NM_004004:c.*84T>C NA NA UTR3 ENSG00000165474 ENST00000382848:c.*84T>C,ENST00000382844:c.*84T>C NA NA NA NA 13q12.11 NA Name=Max,CEBPB Name=4 NA rs3751385 0.67 0.67 0.631 0.686701 0.8082 0.5982 0.67 0.5325 0.8732 0.82 0.55 0.72 0.54 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268284 NA NA NA NA NA 0.659 CLINSIG=non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_1A;CLNREVSTAT=single;CLNACC=RCV000029940.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1272:C2673759:220290:ORPHA90636 6.5251334 1000 6 7585967 7585967 G C exonic DSP NA synonymous SNV DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_004415:exon24:c.G8472C:p.G2824G exonic ENSG00000096696 NA synonymous SNV ENSG00000096696:ENST00000379802:exon24:c.G8472C:p.G2824G,ENSG00000096696:ENST00000418664:exon24:c.G6675C:p.G2225G Score=461;Name=lod=100 NA 6p24.3 Score=787;Name=V$PAX5_02 NA NA NA rs2744380 0.71 0.71 0.703 0.709465 0.7127 0.8046 0.7478 0.6051 0.7219 0.7 0.8 0.74 0.59 0.7117 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493059 NA NA 0.717326 0.630958 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038104.1;CLNDSDB=.;CLNDSDBID=. 6.5249406 1000 15 42171654 42171654 G A exonic SPTBN5 NA synonymous SNV SPTBN5:NM_016642:exon16:c.C2986T:p.L996L exonic ENSG00000137877 NA synonymous SNV ENSG00000137877:ENST00000320955:exon16:c.C2986T:p.L996L Score=284;Name=lod=19 NA 15q15.1 NA NA NA NA rs56379301 0.03 0.03 0.015 0.0307508 0.0368 0.0129 0.0519 NA 0.0695 0.04 0.01 0.05 NA 0.0688 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608746 NA NA 0.036204 0.006683 NA NA NA 6.5248626 1000 14 97299853 97299853 A G exonic VRK1 NA synonymous SNV VRK1:NM_003384:exon2:c.A45G:p.A15A exonic ENSG00000100749 NA synonymous SNV ENSG00000100749:ENST00000216639:exon2:c.A45G:p.A15A NA NA 14q32.2 NA Name=MafK_(ab50322) NA NA rs2145635 0.28 0.28 0.257 0.289537 0.3936 0.1161 0.3401 0.211 0.4315 0.4 0.12 0.35 0.22 0.3565 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674827 NA NA 0.391835 0.211984 NA 0.254 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118847.2;CLNDSDB=.;CLNDSDBID=. 6.5247316 1000 19 9080462 9080462 C G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon2:c.G9569C:p.S3190T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon2:c.G9569C:p.S3190T NA NA 19p13.2 NA NA NA NA rs2547065 0.62 0.62 0.625 0.604433 0.5994 0.8125 0.611 0.4304 0.6258 0.6 0.83 0.6 0.43 0.5996 0.83 0 D 0.0 B 0.0 B . . . . . . 4.68 T -1.092 T 0.000 T 0.02 -0.554 1.495 0.926 -0.035 -0.194 4.819 -0.553583 NA 1 0.610382 0.475026 NA 0.514 NA 6.5239514 1000 2 202436684 202436684 T A exonic ALS2CR11 NA synonymous SNV ALS2CR11:NM_001168216:exon8:c.A813T:p.P271P,ALS2CR11:NM_001168217:exon8:c.A813T:p.P271P,ALS2CR11:NM_001168221:exon8:c.A813T:p.P271P,ALS2CR11:NM_152525:exon8:c.A813T:p.P271P exonic ENSG00000155754 NA synonymous SNV ENSG00000155754:ENST00000286195:exon8:c.A813T:p.P271P,ENSG00000155754:ENST00000439140:exon8:c.A813T:p.P271P,ENSG00000155754:ENST00000439802:exon8:c.A813T:p.P271P,ENSG00000155754:ENST00000450242:exon8:c.A813T:p.P271P Score=415;Name=lod=65 NA 2q33.1 NA NA NA NA rs55872838 0.04 0.04 0.039 0.0417332 0.0477 NA 0.0476 0.0915 0.0072 0.05 NA 0.04 0.06 0.0413 0.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298618 1.298618 NA 0.053721 0.073536 NA 0.029 NA 6.5239456 1000 17 80159566 80159566 T C exonic CCDC57 NA synonymous SNV CCDC57:NM_198082:exon2:c.A255G:p.E85E exonic ENSG00000176155 NA synonymous SNV ENSG00000176155:ENST00000389641:exon2:c.A255G:p.E85E,ENSG00000176155:ENST00000392347:exon2:c.A255G:p.E85E,ENSG00000176155:ENST00000392343:exon3:c.A255G:p.E85E Score=325;Name=lod=28 NA 17q25.3 NA Name=ZNF263 Name=6 NA rs8072670 0.83 0.83 0.825 0.823482 0.7087 0.9276 0.817 0.8828 0.7587 0.71 0.93 0.8 0.89 0.7464 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099626 NA NA 0.688044 0.871276 NA 0.761 NA 6.5235226 1000 1 95367773 95367773 A G exonic CNN3 NA synonymous SNV CNN3:NM_001839:exon4:c.T288C:p.Y96Y exonic ENSG00000117519 NA synonymous SNV ENSG00000117519:ENST00000370206:exon4:c.T288C:p.Y96Y,ENSG00000117519:ENST00000415017:exon4:c.T165C:p.Y55Y,ENSG00000117519:ENST00000545882:exon4:c.T165C:p.Y55Y,ENSG00000117519:ENST00000538964:exon5:c.T288C:p.Y96Y Score=643;Name=lod=546 NA 1p21.3 NA NA NA NA rs2228344 0.05 0.05 0.051 0.0591054 0.0487 NA 0.0447 0.1104 0.0716 0.05 NA 0.05 0.11 0.0504 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006648 NA NA 0.044302 0.103495 NA 0.022 NA 6.5232646 1000 12 547683 547683 T C exonic CCDC77 NA nonsynonymous SNV CCDC77:NM_001130148:exon8:c.T908C:p.M303T,CCDC77:NM_001130146:exon9:c.T908C:p.M303T,CCDC77:NM_001130147:exon9:c.T908C:p.M303T,CCDC77:NM_032358:exon10:c.T1004C:p.M335T exonic ENSG00000120647 NA nonsynonymous SNV ENSG00000120647:ENST00000540180:exon8:c.T908C:p.M303T,ENSG00000120647:ENST00000412006:exon9:c.T908C:p.M303T,ENSG00000120647:ENST00000422000:exon9:c.T908C:p.M303T,ENSG00000120647:ENST00000543504:exon9:c.T908C:p.M303T,ENSG00000120647:ENST00000239830:exon10:c.T1004C:p.M335T NA NA 12p13.33 NA NA NA NA rs735295 0.3 0.3 0.283 0.322883 0.2594 0.3433 0.4107 0.2943 0.3436 0.24 0.37 0.36 0.27 0.2883 0.37 0.57 T 0.002 B 0.004 B 0.241 N 1.000 P 0.69 N 1.11 T -0.973 T 0.000 T 0.063 -0.63 1.21 -0.73 0.008 -0.569 1.844 -0.629996 NA 0.6 0.263023 0.289378 NA 0.261 NA 6.5226104 1000 17 39620399 39620399 C T exonic KRT32 NA synonymous SNV KRT32:NM_002278:exon5:c.G927A:p.Q309Q exonic ENSG00000108759 NA synonymous SNV ENSG00000108759:ENST00000225899:exon5:c.G927A:p.Q309Q Score=444;Name=lod=85 NA 17q21.2 Score=692;Name=V$BRACH_01 NA NA NA rs12948056 0.34 0.34 0.341 0.304113 0.4215 0.3145 0.3818 0.2095 0.2454 0.42 0.35 0.33 0.22 0.3532 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833092 NA NA 0.369651 0.212211 ID=COSM1563840;OCCURENCE=1(large_intestine) 0.326 NA 6.5223156 1000 1 212798977 212798977 A G exonic FAM71A NA nonsynonymous SNV FAM71A:NM_153606:exon1:c.A758G:p.N253S exonic ENSG00000162771 NA nonsynonymous SNV ENSG00000162771:ENST00000294829:exon1:c.A758G:p.N253S NA NA 1q32.3 NA NA NA NA rs3122712 0.26 0.26 0.253 0.252995 0.2634 0.0804 0.196 0.4554 0.1871 0.26 0.1 0.24 0.46 0.2566 0.46 0.75 T 0.001 B 0.0 B . . 1.000 P 0.14 N 3.99 T -0.968 T 0.000 T 0.028 0.074 4.402 -0.822 -0.271 -0.003 1.768 0.074306 NA 0.87 0.291744 0.435315 NA 0.333 NA 6.5215894 1000 9 69238176 69238176 C T intronic CBWD6 NA NA NA intronic ENSG00000204790 NA NA NA NA NA 9q21.11 NA NA NA NA rs71224225 NA NA 0.23 NA NA NA NA NA NA NA NA NA NA 0.4786 NA 0.07 T . . . . . . 1.000 N . . . . -0.999 T 0.080 T 0.021 -0.984 0.285 -3.22 -1.548 -0.033 3.537 -0.984092 NA 0.01 NA NA NA NA NA 6.5214 1000 17 71398170 71398170 G C exonic SDK2 NA synonymous SNV SDK2:NM_001144952:exon19:c.C2595G:p.T865T exonic ENSG00000069188 NA synonymous SNV ENSG00000069188:ENST00000424778:exon2:c.C123G:p.T41T,ENSG00000069188:ENST00000388726:exon19:c.C2595G:p.T865T,ENSG00000069188:ENST00000392650:exon19:c.C2595G:p.T865T NA NA 17q25.1 NA Name=GABP Name=35 NA rs9302962 0.38 0.38 0.392 0.381989 0.3817 0.2133 0.2622 0.6793 0.2393 0.38 0.23 0.27 0.65 0.3694 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008411 NA NA 0.394302 0.638448 ID=COSM437275;OCCURENCE=1(breast) 0.384 NA 6.5212646 1000 19 58927215 58927215 C T intronic ZNF584 NA NA NA exonic ENSG00000171574 NA nonsynonymous SNV ENSG00000171574:ENST00000322834:exon4:c.C298T:p.R100C NA NA 19q13.43 NA NA NA NA rs12986387 0.16 0.16 0.158 0.15016 0.2485 0.0546 0.1772 0.118 0.1718 0.23 0.06 0.19 0.15 0.1895 0.23 0.13 T 0.0 B 0.0 B . . 1.000 P . . 5.21 T -0.906 T 0.000 T 0.072 0.89 8.616 2.03 0.227 -0.221 1.94 0.890219 NA 0 0.207685 0.113014 NA 0.181 NA 6.5209817 1000 14 74727367 74727367 G A exonic VSX2 NA synonymous SNV VSX2:NM_182894:exon5:c.G831A:p.L277L exonic ENSG00000119614 NA synonymous SNV ENSG00000119614:ENST00000261980:exon5:c.G831A:p.L277L Score=538;Name=lod=205 NA 14q24.3 NA NA NA NA rs62006815 0.02 0.02 0.018 0.0195687 0.0447 NA 0.0202 0.0023 0.0368 0.05 NA 0.03 0.0041 0.0552 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.238564 1.238564 NA 0.045973 0.00798 NA 0.014 NA 6.5207936 1000 9 123886277 123886277 A G exonic CNTRL NA synonymous SNV CNTRL:NM_007018:exon11:c.A1719G:p.Q573Q exonic ENSG00000119397 NA synonymous SNV ENSG00000119397:ENST00000373847:exon2:c.A63G:p.Q21Q,ENSG00000119397:ENST00000373850:exon2:c.A63G:p.Q21Q,ENSG00000119397:ENST00000238341:exon11:c.A1719G:p.Q573Q,ENSG00000119397:ENST00000373855:exon13:c.A1719G:p.Q573Q Score=625;Name=lod=464 NA 9q33.2 NA NA NA NA rs62578445 0.02 0.02 0.015 0.019369 0.0567 NA 0.0245 0.0023 0.0204 0.05 NA 0.03 0.01 0.0402 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.264483 1.264483 NA 0.049535 0.008398 NA 0.051 NA 6.5202316 1000 2 220046975 220046975 C A exonic FAM134A NA nonsynonymous SNV FAM134A:NM_024293:exon9:c.C1256A:p.P419Q exonic ENSG00000144567 NA nonsynonymous SNV ENSG00000144567:ENST00000430297:exon9:c.C1256A:p.P419Q NA NA 2q35 Score=960;Name=V$MZF1_01 NA NA NA rs3731900 0.43 0.43 0.39 0.407548 0.6372 0.2361 0.402 0.2443 0.5726 0.65 0.26 0.45 0.27 0.5511 0.65 . . 0.001 B 0.001 B 0.563 N 1.000 P -0.345 N 1.57 T -0.947 T 0.000 T 0.206 0.111 4.596 -0.369 0.024 -0.071 2.388 0.110771 NA 0.41 0.625814 0.298457 NA 0.5 NA 6.5192194 1000 2 160084473 160084473 A C exonic TANC1 NA synonymous SNV TANC1:NM_001145909:exon25:c.A4023C:p.T1341T,TANC1:NM_033394:exon25:c.A4047C:p.T1349T exonic ENSG00000115183 NA synonymous SNV ENSG00000115183:ENST00000454300:exon23:c.A3729C:p.T1243T,ENSG00000115183:ENST00000263635:exon25:c.A4047C:p.T1349T Score=514;Name=lod=163 NA 2q24.2 Score=838;Name=V$FOXO4_02 NA NA NA rs2288110 0.47 0.47 0.438 0.478834 0.3718 0.6151 0.6009 0.351 0.5348 0.37 0.62 0.54 0.38 0.4265 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29353 1.29353 NA 0.349383 0.356289 NA 0.391 NA 6.5189836 1000 2 1664654 1664654 A G exonic PXDN NA synonymous SNV PXDN:NM_012293:exon14:c.T1836C:p.N612N exonic ENSG00000130508 NA synonymous SNV ENSG00000130508:ENST00000252804:exon14:c.T1836C:p.N612N NA NA 2p25.3 NA NA NA NA rs17841813 0.8 0.8 0.774 0.810903 0.6918 0.9752 0.8242 0.7277 0.8671 0.7 0.98 0.81 0.75 0.756 0.98 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . -0.953 0.337 -4.16 -1.006 -0.058 10.927 -0.952668 NA NA 0.700143 0.740297 NA 0.746 NA 6.5187236 1000 1 21952884 21952884 G A exonic RAP1GAP NA synonymous SNV RAP1GAP:NM_001145658:exon3:c.C87T:p.S29S exonic ENSG00000076864 NA synonymous SNV ENSG00000076864:ENST00000290101:exon3:c.C87T:p.S29S,ENSG00000076864:ENST00000359708:exon3:c.C87T:p.S29S Score=475;Name=lod=114 NA 1p36.12 NA NA NA NA rs1130564 0.04 0.04 0.037 0.0315495 0.0517 NA 0.0331 0.0507 0.0164 0.06 NA 0.04 0.07 0.0425 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.38655 1.38655 NA 0.053881 0.03986 NA 0.08 NA 6.5185856 1000 3 196771554 196771554 T C exonic DLG1 NA synonymous SNV DLG1:NM_001204388:exon21:c.A2307G:p.K769K,DLG1:NM_001204387:exon22:c.A2343G:p.K781K,DLG1:NM_001204386:exon25:c.A2619G:p.K873K,DLG1:NM_001098424:exon26:c.A2655G:p.K885K,DLG1:NM_004087:exon26:c.A2721G:p.K907K exonic ENSG00000075711 NA synonymous SNV ENSG00000075711:ENST00000452595:exon21:c.A2307G:p.K769K,ENSG00000075711:ENST00000443183:exon22:c.A2343G:p.K781K,ENSG00000075711:ENST00000422288:exon23:c.A2502G:p.K834K,ENSG00000075711:ENST00000314062:exon24:c.A2502G:p.K834K,ENSG00000075711:ENST00000450955:exon24:c.A2622G:p.K874K,ENSG00000075711:ENST00000357674:exon25:c.A2622G:p.K874K,ENSG00000075711:ENST00000392382:exon25:c.A2556G:p.K852K,ENSG00000075711:ENST00000346964:exon26:c.A2721G:p.K907K,ENSG00000075711:ENST00000419354:exon26:c.A2655G:p.K885K,ENSG00000075711:ENST00000448528:exon26:c.A2655G:p.K885K Score=634;Name=lod=502 NA 3q29 NA NA NA NA rs35370245 0.03 0.03 0.02 0.0253594 0.0577 0.001 0.0303 0.003 0.044 0.06 NA 0.04 0.0041 0.0435 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157205 NA NA 0.046977 0.012937 NA NA NA 6.5184896 1000 4 69512847 69512847 T G exonic UGT2B15 NA nonsynonymous SNV UGT2B15:NM_001076:exon6:c.A1568C:p.K523T exonic ENSG00000196620 NA nonsynonymous SNV ENSG00000196620:ENST00000338206:exon6:c.A1568C:p.K523T NA NA 4q13.2 NA NA NA NA rs4148269 0.33 0.33 0.29 0.367612 0.6362 0.1895 0.5029 0.1263 0.5051 0.55 0.15 0.46 0.1 0.5459 0.63 0.47 T 0.0 B 0.0 B 0.420 N 1.000 P 0.16 N 0.16 T -0.927 T 0.000 T 0.059 -0.904 0.429 -0.317 -0.289 -2.153 5.494 -0.904425 NA 0.48 0.632829 0.224467 NA 0.457 NA 6.5184044 1000 11 18291312 18291312 C T exonic SAA1 NA synonymous SNV SAA1:NM_000331:exon4:c.C279T:p.D93D,SAA1:NM_199161:exon4:c.C279T:p.D93D,SAA1:NM_001178006:exon5:c.C279T:p.D93D exonic ENSG00000173432 NA synonymous SNV ENSG00000173432:ENST00000356524:exon4:c.C279T:p.D93D,ENSG00000173432:ENST00000405158:exon4:c.C279T:p.D93D,ENSG00000173432:ENST00000532858:exon5:c.C279T:p.D93D Score=235;Name=lod=12 NA 11p15.1 NA NA NA NA rs15790 0.02 0.02 0.016 0.0159744 0.0497 NA 0.0173 0.0023 0.0153 0.05 NA 0.02 NA 0.0401 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167438 NA NA 0.058467 0.013188 NA 0.007 NA 6.5183996 1000 9 15203775 15203775 G A intronic TTC39B NA NA NA intronic ENSG00000155158 NA NA NA Score=329;Name=lod=29 NA 9p22.3 Score=884;Name=V$NF1_Q6 NA Name=3 NA rs11789697 0.08 0.08 0.082 0.0700879 0.168 0.0268 0.1037 0.0091 0.0726 0.16 0.02 0.1 0.01 0.1327 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.793717 NA NA 0.181047 0.039265 NA 0.101 NA 6.518253 1000 1 1987993 1987993 T C exonic PRKCZ NA synonymous SNV PRKCZ:NM_002744:exon3:c.T264C:p.D88D exonic ENSG00000067606 NA synonymous SNV ENSG00000067606:ENST00000378567:exon3:c.T264C:p.D88D,ENSG00000067606:ENST00000503297:exon3:c.T126C:p.D42D Score=343;Name=lod=33 NA 1p36.33 Score=799;Name=V$ARP1_01 NA NA NA rs12184 0.63 0.63 0.655 0.669928 0.3429 0.9454 0.402 0.8873 0.6186 0.33 0.95 0.4 0.89 0.4623 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800623 NA NA 0.343605 0.81911 NA 0.601 NA 6.5178616 1000 4 141563747 141563747 A G ncRNA_exonic TNRC18P1 NA NA NA ncRNA_exonic ENSG00000249661 NA NA NA Score=309;Name=lod=24 NA 4q31.21 NA NA Name=4 NA rs12642653 0.11 0.11 0.097 0.115615 0.1491 0.1885 0.0576 0.0038 0.1984 0.16 0.18 0.08 0.0041 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037159 NA NA NA NA NA 0.051 NA 6.5175666 1000 1 109265029 109265029 G T exonic FNDC7 NA nonsynonymous SNV FNDC7:NM_001144937:exon5:c.G671T:p.R224L exonic ENSG00000143107 NA nonsynonymous SNV ENSG00000143107:ENST00000271311:exon4:c.G674T:p.R225L,ENSG00000143107:ENST00000370017:exon5:c.G671T:p.R224L NA NA 1p13.3 NA Name=PU.1 NA NA rs4423040 0.59 0.59 0.565 0.578674 0.6044 0.8621 0.6657 0.2496 0.6431 0.61 0.84 0.64 0.23 0.6062 0.84 0.2 T 0.0 B 0.0 B 0.267 N 1.000 P 0 N 0.66 T -1.026 T 0.021 T 0.061 0.376 6.042 0.32 -0.389 0.273 5.604 0.376039 NA 0.29 0.605814 0.310486 NA 0.391 NA 6.5169194 1000 9 134385436 134385436 A G exonic POMT1 NA nonsynonymous SNV POMT1:NM_007171:exon8:c.A752G:p.Q251R exonic ENSG00000130714 NA nonsynonymous SNV ENSG00000130714:ENST00000441334:exon6:c.A401G:p.Q134R,ENSG00000130714:ENST00000448212:exon7:c.A590G:p.Q197R,ENSG00000130714:ENST00000372228:exon8:c.A752G:p.Q251R NA NA 9q34.13 NA NA NA NA rs2296949 0.87 0.87 0.864 0.870607 0.9423 0.9246 0.8343 0.7171 0.9744 0.94 0.92 0.86 0.7 0.923 0.95 . . 0.0 B 0.0 B 0.001 N 1.000 P 0.55 N -1.02 T -0.924 T 0.000 T 0.246 -1.124 0.123 1.25 0.060 1.328 3.501 -1.123557 NA 0.52 0.951512 0.738311 NA 0.833 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081493.1;CLNDSDB=.;CLNDSDBID=. 6.5165214 1000 16 81301571 81301571 A G exonic BCMO1 NA synonymous SNV BCMO1:NM_017429:exon6:c.A678G:p.P226P exonic ENSG00000135697 NA synonymous SNV ENSG00000135697:ENST00000425577:exon5:c.A471G:p.P157P,ENSG00000135697:ENST00000258168:exon6:c.A678G:p.P226P Score=432;Name=lod=76 NA 16q23.2 NA NA NA NA rs7202895 0.12 0.12 0.128 0.141973 0.0447 0.0099 0.062 0.4312 0.044 0.04 0.01 0.08 0.42 0.0661 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068114 NA NA 0.040116 0.35218 NA 0.167 NA 6.5157506 1001 5 53815066 53815066 C A exonic SNX18 NA synonymous SNV SNX18:NM_001102575:exon1:c.C1284A:p.I428I,SNX18:NM_001145427:exon1:c.C1284A:p.I428I,SNX18:NM_052870:exon1:c.C1284A:p.I428I exonic ENSG00000178996 NA synonymous SNV ENSG00000178996:ENST00000326277:exon1:c.C1284A:p.I428I,ENSG00000178996:ENST00000343017:exon1:c.C1284A:p.I428I,ENSG00000178996:ENST00000381410:exon1:c.C1284A:p.I428I Score=647;Name=lod=570 NA 5q11.2 Score=879;Name=V$CDPCR1_01 NA NA NA rs2548613 0.36 0.36 0.364 0.347444 0.4056 0.2897 0.3674 0.3979 0.2648 0.42 0.28 0.36 0.38 0.3709 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601269 NA NA 0.375233 0.42079 NA 0.283 NA 6.5149336 1001 5 118506807 118506807 A G exonic DMXL1 NA synonymous SNV DMXL1:NM_005509:exon24:c.A6321G:p.T2107T exonic ENSG00000172869 NA synonymous SNV ENSG00000172869:ENST00000311085:exon24:c.A6321G:p.T2107T,ENSG00000172869:ENST00000539542:exon24:c.A6321G:p.T2107T NA NA 5q23.1 Score=952;Name=V$CEBP_01 NA NA NA rs76475084 0.03 0.03 0.018 0.0363419 0.0517 0.003 0.0331 0.0106 0.092 0.05 NA 0.04 0.01 0.049 0.052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028413 NA NA 0.05186 0.01317 NA 0.007 NA 6.5141066 1001 7 23235483 23235483 A G exonic NUPL2 NA synonymous SNV NUPL2:NM_007342:exon4:c.A471G:p.E157E exonic ENSG00000136243 NA synonymous SNV ENSG00000136243:ENST00000258742:exon4:c.A471G:p.E157E,ENSG00000136243:ENST00000413919:exon4:c.A471G:p.E157E,ENSG00000136243:ENST00000438012:exon4:c.A471G:p.E157E Score=607;Name=lod=389 NA 7p15.3 NA NA NA NA rs1728327 0.06 0.06 0.051 0.0782748 0.0467 0.0129 0.0793 0.1362 0.0992 0.05 0.01 0.07 0.12 0.0621 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956075 NA NA 0.043953 0.122106 NA 0.058 NA 6.5139136 1001 2 113940839 113940839 G C exonic PSD4 NA nonsynonymous SNV PSD4:NM_012455:exon2:c.G806C:p.G269A exonic ENSG00000125637 NA nonsynonymous SNV ENSG00000125637:ENST00000245796:exon2:c.G806C:p.G269A,ENSG00000125637:ENST00000441564:exon2:c.G806C:p.G269A NA NA 2q13 NA NA NA NA rs4849167 0.54 0.54 0.518 0.516973 0.4423 0.6012 0.5 0.5272 0.5051 0.46 0.62 0.51 0.58 0.4705 0.62 . . 0.753 P 0.241 B 0.099 N 0.841 P 0.805 L 2.76 T -1.014 T 0.000 T 0.09 2.845 15.48 0.861 -0.120 -0.260 5.162 2.844789 2.844789 0.12 0.407791 0.504539 NA 0.565 NA 6.5127424 1001 14 20872863 20872863 A G exonic TEP1 NA synonymous SNV TEP1:NM_007110:exon5:c.T939C:p.A313A exonic ENSG00000129566 NA synonymous SNV ENSG00000129566:ENST00000262715:exon5:c.T939C:p.A313A,ENSG00000129566:ENST00000555727:exon5:c.T939C:p.A313A Score=493;Name=lod=134 NA 14q11.2 NA NA NA NA rs6413437 0.08 0.08 0.106 0.103634 0.0447 NA 0.0461 0.2844 0.0675 0.05 NA 0.05 0.26 0.0647 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.19605 NA NA 0.044767 0.244212 NA 0.058 NA 6.5124996 1001 20 60738566 60738566 C T exonic SS18L1 NA synonymous SNV SS18L1:NM_198935:exon6:c.C609T:p.G203G exonic ENSG00000184402 NA synonymous SNV ENSG00000184402:ENST00000370848:exon5:c.C618T:p.G206G,ENSG00000184402:ENST00000331758:exon6:c.C609T:p.G203G,ENSG00000184402:ENST00000421564:exon6:c.C609T:p.G203G Score=512;Name=lod=160 NA 20q13.33 NA NA NA NA rs73309164 0.05 0.05 0.055 0.0682907 0.0507 0.001 0.0432 0.1543 0.0573 0.04 NA 0.02 0.13 0.0523 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434553 NA NA 0.051572 0.149705 ID=COSM444155;OCCURENCE=1(breast) 0.087 NA 6.5120946 1001 5 56233490 56233490 G A exonic MIER3 NA synonymous SNV MIER3:NM_152622:exon5:c.C351T:p.D117D exonic ENSG00000155545 NA synonymous SNV ENSG00000155545:ENST00000409421:exon3:c.C162T:p.D54D,ENSG00000155545:ENST00000336942:exon5:c.C270T:p.D90D,ENSG00000155545:ENST00000381199:exon5:c.C351T:p.D117D,ENSG00000155545:ENST00000381213:exon5:c.C351T:p.D117D,ENSG00000155545:ENST00000381226:exon5:c.C366T:p.D122D Score=563;Name=lod=259 NA 5q11.2 NA NA NA NA rs35386984 0.03 0.03 0.022 0.0183706 0.0567 NA 0.0274 0.0045 0.0102 0.06 NA 0.03 0.0041 0.0407 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.23095 NA NA 0.057209 0.009986 NA 0.029 NA 6.5120576 1001 11 7817538 7817538 T C exonic OR5P2 NA nonsynonymous SNV OR5P2:NM_153444:exon1:c.A952G:p.N318D exonic ENSG00000183303 NA nonsynonymous SNV ENSG00000183303:ENST00000329434:exon1:c.A952G:p.N318D NA NA 11p15.4 NA NA NA NA rs7949771 0.27 0.27 0.264 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 0.2633 0.37 0.28 T 0.072 B 0.01 B 0.968 N 1.000 P 0 N 8.86 T -1.214 T 0.000 T 0.015 -0.682 1.029 -0.787 0.072 . 6.108 -0.682344 NA 0.62 0.28192 0.323055 NA 0.246 NA 6.5118134 1001 3 125872293 125872293 G A exonic ALDH1L1 NA synonymous SNV ALDH1L1:NM_001270365:exon5:c.C549T:p.D183D,ALDH1L1:NM_001270364:exon7:c.C882T:p.D294D,ALDH1L1:NM_012190:exon7:c.C852T:p.D284D exonic ENSG00000144908 NA synonymous SNV ENSG00000144908:ENST00000452905:exon5:c.C549T:p.D183D,ENSG00000144908:ENST00000455064:exon6:c.C327T:p.D109D,ENSG00000144908:ENST00000273450:exon7:c.C882T:p.D294D,ENSG00000144908:ENST00000393431:exon7:c.C852T:p.D284D,ENSG00000144908:ENST00000393434:exon7:c.C852T:p.D284D,ENSG00000144908:ENST00000472186:exon7:c.C852T:p.D284D Score=492;Name=lod=133 NA 3q21.3 NA NA NA NA rs16837178 0.06 0.06 0.054 0.0569089 0.0437 NA 0.062 0.1324 0.0235 0.04 NA 0.07 0.13 0.0541 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031631 NA NA 0.057093 0.124149 NA 0.058 NA 6.5117736 1001 12 54675113 54675113 G A ncRNA_intronic HNRNPA1P10 NA NA NA ncRNA_intronic ENSG00000258344 NA NA NA NA NA 12q13.13 NA Name=Pol2-4H8,Sin3Ak-20,HEY1,c-Myc,USF-1,E2F6_(H-50),TAF7_(SQ-8),YY1_(C-20),Pol2,Max,CEBPB Name=100 NA rs2071391 0.24 0.24 0.241 0.227236 0.1551 0.3988 0.2363 0.1248 0.2566 0.15 0.47 0.22 0.14 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23278 NA NA NA NA NA 0.167 NA 6.5115666 1001 16 75646685 75646685 G T exonic ADAT1 NA nonsynonymous SNV ADAT1:NM_012091:exon7:c.C499A:p.H167N exonic ENSG00000065457 NA nonsynonymous SNV ENSG00000065457:ENST00000307921:exon7:c.C499A:p.H167N NA NA 16q23.1 NA NA NA NA rs3743598 0.53 0.53 0.525 0.570487 0.2396 0.8165 0.4957 0.7194 0.5092 0.23 0.82 0.47 0.68 0.3692 0.82 0.54 T 0.0 B 0.002 B 0.136 N 1.000 P -1.575 N 2.56 T -0.984 T 0.000 T 0.024 -0.761 0.784 1.81 -0.133 -0.091 6.838 -0.761258 NA 0.7 0.214419 0.658098 NA 0.413 NA 6.5101144 1001 20 3686436 3686436 C T exonic SIGLEC1 NA nonsynonymous SNV SIGLEC1:NM_023068:exon3:c.G661A:p.V221M exonic ENSG00000088827 NA nonsynonymous SNV ENSG00000088827:ENST00000202578:exon3:c.G661A:p.V221M,ENSG00000088827:ENST00000344754:exon3:c.G661A:p.V221M NA NA 20p13 NA NA NA NA rs6037651 0.66 0.66 0.654 0.690895 0.5726 0.747 0.5865 0.7375 0.7658 0.58 0.72 0.55 0.78 0.657 0.78 0.23 T 0.196 B 0.086 B 0.222 N 1.000 P 0.41 N -2.09 D -0.967 T 0.000 T 0.053 0.883 8.586 0.33 -0.069 -0.625 4.321 0.883473 NA 0.1 0.593953 0.713345 ID=COSM1411675;OCCURENCE=1(large_intestine) 0.652 NA 6.5097804 1001 6 51524403 51524403 G A exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon61:c.C10521T:p.H3507H exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000371117:exon61:c.C10521T:p.H3507H NA NA 6p12.3 NA NA NA NA rs34460237 0.07 0.07 0.048 0.0656949 0.0517 0.1339 0.098 0.003 0.0716 0.05 0.13 0.09 0.01 0.0624 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.931905 NA NA 0.04314 0.009986 NA 0.043 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082515.1;CLNDSDB=.;CLNDSDBID=. 6.5094266 1001 12 51203371 51203371 C T exonic ATF1 NA synonymous SNV ATF1:NM_005171:exon4:c.C327T:p.Y109Y exonic ENSG00000123268 NA synonymous SNV ENSG00000123268:ENST00000262053:exon4:c.C327T:p.Y109Y,ENSG00000123268:ENST00000552487:exon4:c.C327T:p.Y109Y,ENSG00000123268:ENST00000552510:exon4:c.C327T:p.Y109Y Score=559;Name=lod=250 NA 12q13.12 NA Name=GATA-1 NA NA rs1129406 0.39 0.39 0.385 0.393371 0.3877 0.2619 0.281 0.5658 0.3814 0.38 0.31 0.28 0.56 0.3655 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.721353 1.721353 NA 0.404535 0.529505 NA 0.391 NA 6.5089316 1001 7 23239133 23239133 C T exonic NUPL2 NA synonymous SNV NUPL2:NM_007342:exon6:c.C666T:p.S222S exonic ENSG00000136243 NA synonymous SNV ENSG00000136243:ENST00000258742:exon6:c.C666T:p.S222S,ENSG00000136243:ENST00000413919:exon7:c.C741T:p.S247S NA NA 7p15.3 Score=746;Name=V$MYOGNF1_01 NA NA NA rs858238 0.07 0.07 0.074 0.096845 0.0467 0.0129 0.0821 0.2057 0.0982 0.05 0.01 0.07 0.18 0.0672 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180938 NA NA 0.044186 0.179074 NA 0.094 NA 6.5085806 1001 12 7894056 7894056 G A exonic CLEC4C NA nonsynonymous SNV CLEC4C:NM_203503:exon3:c.C103T:p.P35S,CLEC4C:NM_130441:exon4:c.C196T:p.P66S exonic ENSG00000198178 NA nonsynonymous SNV ENSG00000198178:ENST00000360345:exon3:c.C196T:p.P66S,ENSG00000198178:ENST00000540085:exon3:c.C103T:p.P35S,ENSG00000198178:ENST00000354629:exon4:c.C103T:p.P35S,ENSG00000198178:ENST00000542353:exon4:c.C196T:p.P66S NA NA 12p13.31 NA NA NA NA rs73056605 0.23 0.23 0.2 0.186901 0.2962 0.1994 0.3285 0.0446 0.1534 0.29 0.23 0.34 0.05 0.2434 0.34 0.96 T 0.037 B 0.01 B . . 1.000 P -1.95 N 4.49 T -0.975 T 0.000 T 0.038 -2.239 0.005 -1.29 -0.356 -0.053 4.844 -2.238978 NA 0.8 0.285814 0.090331 ID=COSM147410;OCCURENCE=1(stomach) 0.312 NA 6.5079194 1001 6 122001581 122001581 A C intergenic GJA1,HSF2 dist=230708;dist=719115 NA NA ncRNA_exonic ENSG00000219135 NA NA NA Score=722;Name=lod=1141 NA 6q22.31 NA Name=Rad21 Name=4 NA rs9490337 0.48 0.48 0.44 0.515575 0.493 0.3869 0.6196 0.4516 0.684 0.52 0.38 0.6 0.45 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102437 NA NA NA NA NA 0.384 NA 6.507 1001 16 71807232 71807232 C A exonic AP1G1 NA synonymous SNV AP1G1:NM_001030007:exon4:c.G360T:p.G120G,AP1G1:NM_001128:exon4:c.G360T:p.G120G exonic ENSG00000166747 NA synonymous SNV ENSG00000166747:ENST00000299980:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000393512:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000423132:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000450149:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000563259:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000565009:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000569185:exon4:c.G360T:p.G120G,ENSG00000166747:ENST00000563104:exon5:c.G360T:p.G120G,ENSG00000166747:ENST00000568327:exon5:c.G360T:p.G120G,ENSG00000166747:ENST00000433195:exon7:c.G429T:p.G143G,ENSG00000166747:ENST00000569748:exon7:c.G360T:p.G120G Score=672;Name=lod=716 NA 16q22.2 NA NA NA NA rs113235758 0.03 0.03 0.014 0.0163738 0.0567 NA 0.0303 NA 0.0041 0.06 NA 0.03 NA 0.0413 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231585 NA NA 0.061744 0.011829 NA 0.014 NA 6.5069226 1001 8 27293865 27293865 C T exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon15:c.C1341T:p.H447H,PTK2B:NM_173176:exon15:c.C1341T:p.H447H,PTK2B:NM_004103:exon16:c.C1341T:p.H447H,PTK2B:NM_173174:exon20:c.C1341T:p.H447H exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000397497:exon7:c.C579T:p.H193H,ENSG00000120899:ENST00000517339:exon14:c.C1341T:p.H447H,ENSG00000120899:ENST00000346049:exon15:c.C1341T:p.H447H,ENSG00000120899:ENST00000420218:exon15:c.C1341T:p.H447H,ENSG00000120899:ENST00000544172:exon19:c.C1341T:p.H447H,ENSG00000120899:ENST00000338238:exon20:c.C1341T:p.H447H,ENSG00000120899:ENST00000397501:exon20:c.C1341T:p.H447H Score=535;Name=lod=200 NA 8p21.2 NA Name=Pol2-4H8 NA NA rs7005936 0.33 0.33 0.321 0.370208 0.3867 0.1954 0.3804 0.4607 0.4039 0.4 0.15 0.35 0.42 0.3782 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.494136 1.494136 NA 0.394884 0.444621 ID=COSM1559836,COSM1559834,COSM1559835;OCCURENCE=1(central_nervous_system) 0.471 NA 6.5068826 1001 6 117686840 117686840 T C exonic ROS1 NA synonymous SNV ROS1:NM_002944:exon19:c.A2877G:p.E959E exonic ENSG00000047936 NA synonymous SNV ENSG00000047936:ENST00000368508:exon19:c.A2877G:p.E959E,ENSG00000047936:ENST00000368507:exon20:c.A2862G:p.E954E Score=472;Name=lod=110 NA 6q22.1 NA NA NA NA rs2229078 0.03 0.03 0.02 0.0241613 0.0577 0.001 0.0303 NA 0.0419 0.06 NA 0.02 NA 0.0484 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810091 NA NA 0.053953 0.010894 NA NA NA 6.5066136 1001 20 60737908 60737908 G A exonic SS18L1 NA synonymous SNV SS18L1:NM_198935:exon5:c.G477A:p.S159S exonic ENSG00000184402 NA synonymous SNV ENSG00000184402:ENST00000370848:exon4:c.G486A:p.S162S,ENSG00000184402:ENST00000331758:exon5:c.G477A:p.S159S,ENSG00000184402:ENST00000421564:exon5:c.G477A:p.S159S Score=378;Name=lod=46 NA 20q13.33 NA NA NA NA rs61744430 0.05 0.05 0.058 0.0746805 0.0537 0.003 0.049 0.1672 0.0634 0.04 NA 0.02 0.15 0.0539 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203828 NA NA 0.052791 0.157059 NA 0.109 NA 6.5062756 1001 17 7286266 7286266 C T exonic TNK1 NA synonymous SNV TNK1:NM_001251902:exon2:c.C21T:p.S7S,TNK1:NM_003985:exon2:c.C21T:p.S7S exonic ENSG00000174292 NA synonymous SNV ENSG00000174292:ENST00000311668:exon2:c.C21T:p.S7S,ENSG00000174292:ENST00000576207:exon2:c.C21T:p.S7S,ENSG00000174292:ENST00000576812:exon2:c.C21T:p.S7S,ENSG00000174292:ENST00000570896:exon3:c.C21T:p.S7S Score=546;Name=lod=220 NA 17p13.1 Score=721;Name=V$SEF1_C NA NA NA rs1554947 0.35 0.35 0.319 0.273962 0.4056 0.4593 0.3934 0.0356 0.1851 0.42 0.51 0.38 0.05 0.3601 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713234 NA NA 0.394884 0.09398 NA 0.29 NA 6.5060826 1001 17 4804902 4804902 G A exonic CHRNE NA synonymous SNV CHRNE:NM_000080:exon6:c.C519T:p.A173A exonic ENSG00000108556 NA synonymous SNV ENSG00000108556:ENST00000293780:exon6:c.C519T:p.A173A NA NA 17p13.2 NA NA NA NA rs33970119 0.03 0.03 0.032 0.0199681 0.0616 0.001 0.0461 0.0008 0.0041 0.05 NA 0.06 0.0041 0.037 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358502 NA NA 0.062209 0.01044 NA 0.029 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116740.2;CLNDSDB=.;CLNDSDBID=. 6.5058576 1001 10 27692205 27692205 G A exonic PTCHD3 NA synonymous SNV PTCHD3:NM_001034842:exon3:c.C1293T:p.G431G exonic ENSG00000182077 NA synonymous SNV ENSG00000182077:ENST00000438700:exon3:c.C1293T:p.G431G Score=423;Name=lod=70 NA 10p12.1 NA NA NA NA rs11015742 0.13 0.13 0.131 0.121206 0.0437 0.371 0.1037 0.0219 0.09 0.05 0.36 0.09 0.03 0.0791 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939729 NA NA 0.038256 0.024739 NA 0.051 NA 6.5056106 1001 22 20126741 20126741 G T exonic ZDHHC8 NA synonymous SNV ZDHHC8:NM_001185024:exon2:c.G129T:p.V43V,ZDHHC8:NM_013373:exon2:c.G129T:p.V43V exonic ENSG00000099904 NA synonymous SNV ENSG00000099904:ENST00000320602:exon2:c.G129T:p.V43V,ENSG00000099904:ENST00000334554:exon2:c.G129T:p.V43V,ENSG00000099904:ENST00000405930:exon2:c.G129T:p.V43V,ENSG00000099904:ENST00000436518:exon2:c.G96T:p.V32V Score=401;Name=lod=57 NA 22q11.21 NA NA NA NA rs61737216 0.04 0.04 0.049 0.0501198 0.0527 0.0813 0.0101 0.0045 0.1053 0.06 0.07 0.01 0.0041 0.0542 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26184 1.26184 NA 0.054186 0.011802 NA 0.043 NA 6.5055806 1001 1 65147002 65147002 C T exonic CACHD1 NA synonymous SNV CACHD1:NM_020925:exon25:c.C3315T:p.H1105H exonic ENSG00000158966 NA synonymous SNV ENSG00000158966:ENST00000290039:exon25:c.C3315T:p.H1105H,ENSG00000158966:ENST00000371073:exon25:c.C3468T:p.H1156H Score=671;Name=lod=713 NA 1p31.3 NA NA NA NA rs3828064 0.11 0.11 0.104 0.127596 0.0457 0.1935 0.0879 0.1815 0.0992 0.04 0.16 0.1 0.17 0.0696 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868531 NA NA 0.046047 0.16364 NA 0.203 NA 6.5053196 1002 6 30227583 30227583 C G ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA Name=CTCF,ZNF263 Name=35 NA rs9391807 0.22 0.22 0.154 0.232628 0.163 0.4435 0.3156 0.0129 0.3252 0.16 0.42 0.27 0.02 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671653 NA NA NA NA NA 0.261 NA 6.5036666 1002 7 47876567 47876567 G A exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon37:c.C5895T:p.C1965C exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon37:c.C5895T:p.C1965C NA NA 7p12.3 Score=738;Name=V$PPARA_01 NA NA NA rs17131842 0.03 0.03 0.024 0.0169728 0.0527 0.002 0.036 0.0023 0.002 0.05 0.0035 0.05 0.002 0.0472 0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719091 NA NA 0.063256 0.011348 NA 0.007 NA 6.5035106 1002 17 75085230 75085230 C G ncRNA_intronic LINC00338 NA NA NA ncRNA_intronic ENSG00000234912 NA NA NA NA NA 17q25.2 NA Name=ERalpha_a,Pol2 Name=25 NA rs9900566 NA NA NA 0.0782748 0.164 0.006 0.0994 0.0098 0.1421 NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363919 NA NA NA NA NA 0.138 NA 6.5026666 1002 2 121106850 121106850 C T exonic INHBB NA synonymous SNV INHBB:NM_002193:exon2:c.C624T:p.H208H exonic ENSG00000163083 NA synonymous SNV ENSG00000163083:ENST00000295228:exon2:c.C624T:p.H208H NA NA 2q14.2 Score=845;Name=V$ER_Q6 NA NA NA rs4328642 0.14 0.14 0.114 0.137181 0.0467 0.4127 0.1744 0.0371 0.0552 0.05 0.39 0.12 0.02 0.0832 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.357649 NA NA 0.035465 0.046981 NA 0.08 NA 6.5013016 1002 22 32506104 32506104 G A exonic SLC5A1 NA synonymous SNV SLC5A1:NM_001256314:exon14:c.G1518A:p.T506T,SLC5A1:NM_000343:exon15:c.G1899A:p.T633T exonic ENSG00000100170 NA synonymous SNV ENSG00000100170:ENST00000543737:exon14:c.G1518A:p.T506T,ENSG00000100170:ENST00000266088:exon15:c.G1899A:p.T633T Score=528;Name=lod=186 NA 22q12.3 NA NA NA NA rs33943816 0.03 0.03 0.02 0.0333466 0.0577 0.0198 0.0418 0.0061 0.0532 0.05 0.02 0.06 0.01 0.0454 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972645 NA NA 0.062326 0.012029 NA 0.029 NA 6.5012406 1002 2 167144995 167144995 T C exonic SCN9A NA synonymous SNV SCN9A:NM_002977:exon10:c.A1266G:p.E422E exonic ENSG00000169432 NA synonymous SNV ENSG00000169432:ENST00000452182:exon7:c.A861G:p.E287E,ENSG00000169432:ENST00000454569:exon7:c.A861G:p.E287E,ENSG00000169432:ENST00000409435:exon9:c.A1266G:p.E422E,ENSG00000169432:ENST00000303354:exon10:c.A1269G:p.E423E,ENSG00000169432:ENST00000375387:exon10:c.A1269G:p.E423E,ENSG00000169432:ENST00000409672:exon10:c.A1266G:p.E422E Score=513;Name=lod=162 NA 2q24.3 NA NA NA NA rs13402180 0.34 0.34 0.319 0.354433 0.4036 0.3065 0.3242 0.357 0.3712 0.41 0.24 0.36 0.34 0.373 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876987 NA NA 0.388862 0.381457 NA 0.507 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118292.2;CLNDSDB=.;CLNDSDBID=. 6.5012046 1002 2 167145142 167145142 A G exonic SCN9A NA synonymous SNV SCN9A:NM_002977:exon10:c.T1119C:p.A373A exonic ENSG00000169432 NA synonymous SNV ENSG00000169432:ENST00000452182:exon7:c.T714C:p.A238A,ENSG00000169432:ENST00000454569:exon7:c.T714C:p.A238A,ENSG00000169432:ENST00000409435:exon9:c.T1119C:p.A373A,ENSG00000169432:ENST00000303354:exon10:c.T1122C:p.A374A,ENSG00000169432:ENST00000375387:exon10:c.T1122C:p.A374A,ENSG00000169432:ENST00000409672:exon10:c.T1119C:p.A373A Score=576;Name=lod=293 NA 2q24.3 NA NA NA NA rs13414203 0.34 0.34 0.321 0.354433 0.4036 0.3065 0.3242 0.357 0.3712 0.41 0.24 0.36 0.34 0.374 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193386 NA NA 0.387899 0.379028 NA 0.5 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118290.2;CLNDSDB=.;CLNDSDBID=. 6.5011676 1002 2 91800347 91800347 G A intergenic NONE,LOC654342 dist=NONE;dist=24362 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=417;Name=lod=66 NA 2p11.1 NA Name=SUZ12,TCF12,Ini1 Name=13 NA rs6708765 NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553923 NA NA NA NA NA 0.486 NA 6.5 1002 2 133018967 133018967 A G intergenic ANKRD30BL,GPR39 dist=3425;dist=155180 NA NA upstream ENSG00000233786 NA NA NA Score=728;Name=lod=1217 NA 2q21.2 NA Name=FOXA2_(SC-6554),ZBTB33 Name=147 NA rs34335623 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463881 NA NA NA NA NA 0.435 NA 6.5 1002 2 133019016 133019016 T G intergenic ANKRD30BL,GPR39 dist=3474;dist=155131 NA NA upstream ENSG00000233786 NA NA NA Score=728;Name=lod=1217 NA 2q21.2 NA Name=ZBTB33,FOXA2_(SC-6554) Name=147 NA rs10153756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037838 NA NA NA NA NA 0.609 NA 6.5 1002 2 133019052 133019052 C A intergenic ANKRD30BL,GPR39 dist=3510;dist=155095 NA NA upstream ENSG00000233786 NA NA NA Score=728;Name=lod=1217 NA 2q21.2 NA Name=FOXA2_(SC-6554) Name=147 NA rs4018091 NA NA 0.414 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255812 NA NA NA NA NA 0.007 NA 6.5 1002 14 107282768 107282768 G A intergenic LINC00221,NONE dist=331239;dist=NONE NA NA downstream ENSG00000211979 NA NA NA Score=272;Name=lod=17 NA 14q32.33 NA NA Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356587 NA NA NA NA NA NA NA 6.5 1002 17 21201719 21201719 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs8076154 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 0.68 T . . . . 0.001 N 1.000 N . . . . -0.955 T 0.000 T . 0.959 8.912 -2.6 -1.093 -0.386 6.860 0.958895 NA 0.3 NA NA NA 0.486 NA 6.5 1002 21 11021125 11021125 C T UTR3 BAGE2,BAGE3,BAGE4,BAGE5 NM_182482:c.*1262G>A;NM_182481:c.*1262G>A;NM_181704:c.*1357G>A;NM_182484:c.*1357G>A NA NA ncRNA_exonic ENSG00000187172 NA NA NA Score=567;Name=lod=270 NA 21p11.1 Score=884;Name=V$TGIF_01 NA NA NA rs9712674 NA NA 0.297 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693795 NA NA NA NA NA NA NA 6.5 1002 21 11029616 11029616 G T UTR3 BAGE2,BAGE3 NM_182482:c.*1040C>A;NM_182481:c.*1040C>A NA NA ncRNA_exonic ENSG00000187172 NA NA NA Score=699;Name=lod=922 NA 21p11.1 Score=758;Name=V$STAT1_01 NA NA NA rs7510058 NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.31139 1.31139 NA NA NA NA NA NA 6.5 1002 21 11047496 11047496 G A UTR3 BAGE2,BAGE3,BAGE4,BAGE5 NM_182482:c.*221C>T;NM_182481:c.*221C>T;NM_181704:c.*436C>T;NM_182484:c.*436C>T NA NA ncRNA_exonic ENSG00000187172 NA NA NA Score=646;Name=lod=565 NA 21p11.1 NA NA Name=2 NA rs467861 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017928 NA NA NA NA NA 0.536 NA 6.5 1002 11 1857747 1857747 T C exonic SYT8 NA synonymous SNV SYT8:NM_138567:exon6:c.T651C:p.R217R exonic ENSG00000149043 NA synonymous SNV ENSG00000149043:ENST00000341958:exon5:c.T609C:p.R203R,ENSG00000149043:ENST00000381968:exon6:c.T651C:p.R217R NA NA 11p15.5 NA NA NA NA rs3741232 0.34 0.34 0.32 0.337859 0.3936 0.3026 0.3732 0.239 0.4254 0.4 0.31 0.4 0.23 0.3906 0.4 . . . . . . . . 1.000 P . . . . -0.929 T 0.000 T . 1.22 9.949 -2.92 -0.731 -0.940 3.233 1.219507 NA NA 0.382654 0.263517 NA 0.254 NA 6.4998126 1002 17 62049738 62049738 G A exonic SCN4A NA synonymous SNV SCN4A:NM_000334:exon2:c.C366T:p.R122R exonic ENSG00000007314 NA synonymous SNV ENSG00000007314:ENST00000435607:exon2:c.C366T:p.R122R,ENSG00000007314:ENST00000578147:exon2:c.C366T:p.R122R NA NA 17q23.3 NA NA NA NA rs41280108 0.03 0.03 0.024 0.0305511 0.0636 0.0268 0.0461 0.0023 0.0276 0.06 0.02 0.04 0.002 0.0479 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.055823 NA NA 0.056247 0.011379 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118270.2;CLNDSDB=.;CLNDSDBID=. 6.4989196 1002 7 91691601 91691601 C T exonic AKAP9 NA synonymous SNV AKAP9:NM_005751:exon24:c.C5778T:p.G1926G,AKAP9:NM_147185:exon24:c.C5778T:p.G1926G exonic ENSG00000127914 NA synonymous SNV ENSG00000127914:ENST00000356239:exon24:c.C5778T:p.G1926G,ENSG00000127914:ENST00000358100:exon25:c.C5814T:p.G1938G,ENSG00000127914:ENST00000359028:exon25:c.C5814T:p.G1938G Score=518;Name=lod=170 NA 7q21.2 Score=954;Name=V$CDPCR3HD_01 NA NA NA rs10236397 0.35 0.35 0.373 0.359824 0.3857 0.1617 0.3559 0.4561 0.41 0.39 0.17 0.38 0.49 0.3795 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611165 NA NA 0.40314 0.475715 NA 0.406 NA 6.4983266 1002 5 32087808 32087808 G C exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon19:c.G4254C:p.G1418G exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon19:c.G4254C:p.G1418G,ENSG00000133401:ENST00000438447:exon20:c.G4254C:p.G1418G NA NA 5p13.3 Score=748;Name=V$SEF1_C NA NA NA rs3733720 0.12 0.12 0.009 0.117612 0.0755 0.2371 0.1441 0.0439 0.1186 0.07 0.25 0.11 0.04 0.0931 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120845 NA NA NA NA NA 0.072 NA 6.4980666 1002 22 45691594 45691594 A G exonic UPK3A NA synonymous SNV UPK3A:NM_001167574:exon4:c.A495G:p.Q165Q,UPK3A:NM_006953:exon6:c.A858G:p.Q286Q exonic ENSG00000100373 NA synonymous SNV ENSG00000100373:ENST00000396082:exon4:c.A495G:p.Q165Q,ENSG00000100373:ENST00000216211:exon6:c.A858G:p.Q286Q Score=403;Name=lod=58 NA 22q13.31 Score=826;Name=V$PPARG_03 NA NA NA rs1057356 0.57 0.57 0.595 0.628195 0.3598 0.6508 0.4841 0.8843 0.637 0.35 0.62 0.52 0.86 0.4621 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051888 NA NA 0.346744 0.799818 NA 0.558 NA 6.4980226 1002 9 68433523 68433523 T C ncRNA_exonic LOC642236 NA NA NA ncRNA_exonic ENSG00000215548 NA NA NA Score=603;Name=lod=375 NA 9q13 Score=878;Name=V$OCT1_06 NA NA NA rs62543350 NA NA NA 0.334864 0.169 0.5188 0.1614 0.4274 0.3139 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267661 NA NA NA NA NA NA NA 6.4976666 1002 1 11301714 11301714 A G exonic MTOR NA synonymous SNV MTOR:NM_004958:exon10:c.T1437C:p.D479D exonic ENSG00000198793 NA synonymous SNV ENSG00000198793:ENST00000361445:exon10:c.T1437C:p.D479D Score=548;Name=lod=225 NA 1p36.22 Score=901;Name=V$AREB6_02 NA NA Score=80;Name=12204_0_-_80 rs1135172 0.66 0.66 0.619 0.639577 0.7237 0.878 0.7622 0.2239 0.7822 0.73 0.88 0.75 0.23 0.717 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720907 NA NA 0.728488 0.305946 NA 0.652 NA 6.4974786 1002 6 46135283 46135283 A G exonic ENPP5 NA synonymous SNV ENPP5:NM_021572:exon2:c.T717C:p.H239H exonic ENSG00000112796 NA synonymous SNV ENSG00000112796:ENST00000230565:exon2:c.T717C:p.H239H,ENSG00000112796:ENST00000371383:exon3:c.T717C:p.H239H Score=522;Name=lod=177 NA 6p21.1 NA NA NA NA rs34450398 0.04 0.04 0.028 0.0353435 0.0696 NA 0.0591 0.0303 0.0266 0.06 NA 0.06 0.03 0.0446 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.641592 NA NA 0.055116 0.038811 NA 0.007 NA 6.4973506 1002 5 72419617 72419617 C A exonic TMEM171 NA nonsynonymous SNV TMEM171:NM_001161342:exon2:c.C417A:p.N139K,TMEM171:NM_173490:exon2:c.C417A:p.N139K exonic ENSG00000157111 NA nonsynonymous SNV ENSG00000157111:ENST00000287773:exon2:c.C417A:p.N139K,ENSG00000157111:ENST00000454765:exon2:c.C417A:p.N139K NA NA 5q13.2 NA NA NA NA rs636926 0.42 0.42 0.424 0.448283 0.2654 0.5942 0.3285 0.5696 0.407 0.26 0.57 0.35 0.55 0.3235 0.57 0.2 T 0.02 B 0.023 B 0.107 N 1.000 P 0 N 1.98 T -0.956 T 0.000 T 0.012 0.526 6.847 1.2 0.626 0.304 2.939 0.525579 NA 0.23 0.247442 0.529959 NA 0.377 NA 6.4969914 1002 11 61914369 61914369 C T exonic INCENP NA synonymous SNV INCENP:NM_020238:exon14:c.C2187T:p.A729A,INCENP:NM_001040694:exon15:c.C2199T:p.A733A exonic ENSG00000149503 NA synonymous SNV ENSG00000149503:ENST00000278849:exon14:c.C2187T:p.A729A,ENSG00000149503:ENST00000394818:exon15:c.C2199T:p.A733A Score=329;Name=lod=29 NA 11q12.3 NA NA NA NA rs35595038 0.04 0.04 0.031 0.0421326 0.0467 0.002 0.1383 0.003 0.0634 0.04 0.0017 0.14 0.01 0.0738 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.348636 2.348636 NA 0.049467 0.012781 NA 0.036 NA 6.4966996 1002 6 56473005 56473005 T C ncRNA_intronic RNU6-71P NA NA NA exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000439203:exon26:c.A4810G:p.I1604V,ENSG00000151914:ENST00000446842:exon26:c.A4810G:p.I1604V,ENSG00000151914:ENST00000312431:exon36:c.A5788G:p.I1930V,ENSG00000151914:ENST00000361203:exon36:c.A5788G:p.I1930V,ENSG00000151914:ENST00000370769:exon36:c.A5788G:p.I1930V,ENSG00000151914:ENST00000370754:exon39:c.A6322G:p.I2108V NA NA 6p12.1 NA NA NA NA rs151214572 0.0014 0.0014 0.003 0.000399361 0.002 NA NA NA NA 0.004 NA NA NA 0.0006 0.004 1 T 0.013 B 0.03 B 0.167 N 0.999 N . . 0.94 T -1.063 T 0.083 T 0.069 -2.087 0.006 0.722 0.127 0.054 7.267 -2.086987 NA 0.9 0.000739 0 NA NA NA 6.496661 1002 1 26627478 26627478 T C exonic UBXN11 NA synonymous SNV UBXN11:NM_001077262:exon4:c.A138G:p.S46S,UBXN11:NM_183008:exon5:c.A138G:p.S46S exonic ENSG00000158062 NA synonymous SNV ENSG00000158062:ENST00000314675:exon4:c.A138G:p.S46S,ENSG00000158062:ENST00000374215:exon4:c.A24G:p.S8S,ENSG00000158062:ENST00000421827:exon4:c.A138G:p.S46S,ENSG00000158062:ENST00000374221:exon5:c.A138G:p.S46S,ENSG00000158062:ENST00000374222:exon5:c.A138G:p.S46S,ENSG00000158062:ENST00000423664:exon5:c.A24G:p.S8S Score=393;Name=lod=53 NA 1p36.11 Score=761;Name=V$EVI1_01 Name=AP-2alpha,AP-2gamma NA NA rs2276712 0.61 0.61 0.604 0.567292 0.7356 0.4385 0.5735 0.5885 0.4939 0.72 0.45 0.61 0.62 0.6687 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303536 NA NA 0.766635 0.648219 NA 0.638 NA 6.4957316 1002 3 125643847 125643847 G A ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA NA NA 3q21.2 Score=714;Name=V$NRSF_01 Name=ERalpha_a NA NA rs13063119 0.24 0.24 0.247 0.25619 0.171 0.1062 0.1657 0.5635 0.1472 0.17 0.1 0.18 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446968 NA 0 NA NA NA 0.087 NA 6.4956666 1002 19 39926643 39926643 A G upstream RPS16 NA NA NA upstream ENSG00000105193,ENSG00000196235 NA NA NA NA NA 19q13.2 Score=863;Name=V$CREB_Q2 Name=SRF,PAX5-C20,STAT2,AP-2gamma,HEY1,NFKB,CCNT2,c-Myc,IRF1,TBP,GTF2B,Nrf1,TCF12,TAL1_(SC-12984),ELK4,AP-2alpha,Pol2(b),E2F1,Pol2-4H8,HA-E2F1,Sin3Ak-20,Oct-2,ELF1_(SC-631),Max,GR,CEBPB,GTF2F1_(RAP-74),CTCF,GABP,HMGN3,E2F4,POU2F2,TAF1,ETS1,MEF2A,E2F6,TR4,YY1_(C-20),BRCA1_(C-1863),TAF7_(SQ-8),Pol2(phosphoS2),NELFe,Pol2,Mxi1_(bHLH),PU.1,ATF3,NRSF,SP1 Name=148 NA rs62120663 0.12 0.12 0.106 0.142572 0.171 0.0367 0.1455 0.1437 0.2188 0.18 0.02 0.18 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.662514 1.662514 NA NA NA NA 0.087 NA 6.4956666 1002 12 51771040 51771040 T C exonic GALNT6 NA synonymous SNV GALNT6:NM_007210:exon4:c.A603G:p.L201L exonic ENSG00000139629 NA synonymous SNV ENSG00000139629:ENST00000603641:exon2:c.A603G:p.L201L,ENSG00000139629:ENST00000543196:exon3:c.A603G:p.L201L,ENSG00000139629:ENST00000356317:exon4:c.A603G:p.L201L NA NA 12q13.13 NA Name=CTCF,c-Myc NA NA rs2277379 0.1 0.1 0.08 0.107428 0.0497 0.1726 0.1585 0.0469 0.1452 0.05 0.2 0.1 0.04 0.0824 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956354 NA NA 0.039302 0.047208 NA 0.043 NA 6.4952646 1003 4 759923 759923 C T UTR3 PCGF3 NM_006315:c.*56C>T NA NA ncRNA_UTR3 ENSG00000185619 NA NA NA NA NA 4p16.3 NA Name=CCNT2 Name=91 NA rs191166241 0.0014 0.0014 NA 0.000798722 0.002 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA NA 0.0035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360267 NA NA 0.003457 0.001445 NA NA NA 6.494543 1003 12 120750517 120750517 A G exonic SIRT4 NA synonymous SNV SIRT4:NM_012240:exon3:c.A756G:p.E252E exonic ENSG00000089163 NA synonymous SNV ENSG00000089163:ENST00000202967:exon3:c.A756G:p.E252E Score=358;Name=lod=38 NA 12q24.31 NA NA NA NA rs16950058 0.08 0.08 0.066 0.0838658 0.0537 0.1151 0.1902 0.028 0.0828 0.06 0.11 0.15 0.03 0.0732 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105366 NA NA 0.045465 0.035179 NA 0.065 NA 6.4943016 1003 8 39871135 39871135 C T exonic IDO2 NA synonymous SNV IDO2:NM_194294:exon10:c.C810T:p.S270S exonic ENSG00000188676 NA synonymous SNV ENSG00000188676:ENST00000389060:exon9:c.C771T:p.S257S,ENSG00000188676:ENST00000502986:exon10:c.C810T:p.S270S NA NA 8p11.21 Score=895;Name=V$CEBP_01 NA NA NA rs2001923 0.08 0.08 0.077 0.0760783 0.0577 0.002 0.0692 0.1785 0.0378 0.06 0.01 0.08 0.18 0.0594 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.256695 NA NA 0.056 0.169199 NA 0.116 NA 6.4935666 1003 19 7125519 7125519 G A exonic INSR NA synonymous SNV INSR:NM_001079817:exon16:c.C2997T:p.Y999Y,INSR:NM_000208:exon17:c.C3033T:p.Y1011Y exonic ENSG00000171105 NA synonymous SNV ENSG00000171105:ENST00000341500:exon16:c.C2997T:p.Y999Y,ENSG00000171105:ENST00000302850:exon17:c.C3033T:p.Y1011Y Score=506;Name=lod=152 NA 19p13.2 NA NA NA NA rs1799815 0.03 0.03 0.026 0.0165735 0.0527 NA 0.0231 0.0038 0.0092 0.06 NA 0.02 0.002 0.0502 0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766915 NA NA 0.071279 0.013845 NA 0.007 NA 6.4924876 1003 12 124377814 124377814 A G exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon52:c.A8676G:p.K2892K exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon52:c.A8676G:p.K2892K Score=346;Name=lod=34 NA 12q24.31 NA NA NA NA rs6488908 0.07 0.07 0.054 0.0682907 0.0606 0.001 0.0504 0.1694 0.0215 0.06 NA 0.06 0.15 0.059 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935352 NA NA 0.054984 0.125504 NA 0.058 NA 6.4920826 1003 7 91726927 91726927 A C exonic AKAP9 NA synonymous SNV AKAP9:NM_005751:exon42:c.A10426C:p.R3476R,AKAP9:NM_147185:exon42:c.A10402C:p.R3468R exonic ENSG00000127914 NA synonymous SNV ENSG00000127914:ENST00000394534:exon16:c.A3964C:p.R1322R,ENSG00000127914:ENST00000358100:exon41:c.A10276C:p.R3426R,ENSG00000127914:ENST00000356239:exon42:c.A10426C:p.R3476R,ENSG00000127914:ENST00000359028:exon42:c.A10438C:p.R3480R Score=507;Name=lod=153 NA 7q21.2 Score=831;Name=V$EVI1_04 NA NA NA rs1063243 0.36 0.36 0.374 0.377396 0.3867 0.1617 0.3573 0.5212 0.41 0.39 0.17 0.38 0.54 0.3846 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753245 NA NA 0.403605 0.529505 NA 0.42 NA 6.4917616 1003 21 31709691 31709691 G A exonic KRTAP27-1 NA nonsynonymous SNV KRTAP27-1:NM_001077711:exon1:c.C296T:p.A99V exonic ENSG00000206107 NA nonsynonymous SNV ENSG00000206107:ENST00000382835:exon1:c.C296T:p.A99V NA NA 21q22.11 NA NA NA NA rs2244485 0.31 0.31 0.299 0.321286 0.4503 0.2639 0.3473 0.1793 0.4213 0.45 0.22 0.35 0.16 0.4062 0.49 0.22 T 0.699 P 0.15 B 0.026 N 1.000 P 1.1 L 3.98 T -0.935 T 0.000 T 0.023 0.33 5.791 0.262 0.039 0.536 4.478 0.330292 NA NA 0.485349 0.222197 NA 0.297 NA 6.4914844 1003 2 86272758 86272758 G A exonic POLR1A NA synonymous SNV POLR1A:NM_015425:exon20:c.C2868T:p.L956L exonic ENSG00000068654 NA synonymous SNV ENSG00000068654:ENST00000263857:exon20:c.C2868T:p.L956L,ENSG00000068654:ENST00000409681:exon20:c.C2868T:p.L956L Score=493;Name=lod=134 NA 2p11.2 NA NA NA NA rs1561328 0.19 0.19 0.193 0.217652 0.0427 0.2252 0.0764 0.5371 0.0583 0.04 0.21 0.08 0.49 0.0892 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842787 NA NA 0.043767 0.437402 NA 0.174 NA 6.4909996 1003 5 149495395 149495395 T C exonic PDGFRB NA synonymous SNV PDGFRB:NM_002609:exon23:c.A3252G:p.P1084P exonic ENSG00000113721 NA synonymous SNV ENSG00000113721:ENST00000261799:exon23:c.A3252G:p.P1084P NA NA 5q32 NA Name=GATA-1,HMGN3,GABP,Pol2,CCNT2,ZBTB7A_(SC-34508) Name=8 NA rs246388 0.29 0.29 0.293 0.285343 0.3956 0.1071 0.3184 0.3041 0.3067 0.4 0.1 0.34 0.29 0.3474 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354099 NA NA 0.432907 0.332728 ID=COSM149993;OCCURENCE=1(stomach) 0.297 NA 6.4907596 1003 8 144993324 144993324 C T exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.G10623A:p.T3541T,PLEC:NM_201379:exon32:c.G10599A:p.T3533T,PLEC:NM_201380:exon32:c.G11076A:p.T3692T,PLEC:NM_201381:exon32:c.G10569A:p.T3523T,PLEC:NM_201382:exon32:c.G10665A:p.T3555T,PLEC:NM_201383:exon32:c.G10677A:p.T3559T,PLEC:NM_201384:exon32:c.G10665A:p.T3555T,PLEC:NM_000445:exon33:c.G10746A:p.T3582T exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.G11076A:p.T3692T,ENSG00000178209:ENST00000345136:exon32:c.G10665A:p.T3555T,ENSG00000178209:ENST00000354589:exon32:c.G10665A:p.T3555T,ENSG00000178209:ENST00000354958:exon32:c.G10599A:p.T3533T,ENSG00000178209:ENST00000356346:exon32:c.G10623A:p.T3541T,ENSG00000178209:ENST00000357649:exon32:c.G10677A:p.T3559T,ENSG00000178209:ENST00000398774:exon32:c.G10569A:p.T3523T,ENSG00000178209:ENST00000527096:exon32:c.G10734A:p.T3578T,ENSG00000178209:ENST00000436759:exon33:c.G10746A:p.T3582T NA NA 8q24.3 Score=913;Name=V$E47_02 NA NA NA rs6984820 0.24 0.24 0.218 0.234026 0.4235 0.1349 0.2983 0.0348 0.365 0.42 0.15 0.3 0.04 0.3451 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646863 NA NA 0.408154 0.089701 NA 0.275 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078835.3;CLNDSDB=.;CLNDSDBID=. 6.4899126 1003 7 45805377 45805377 G T ncRNA_intronic SEPT7P2 NA NA NA ncRNA_exonic ENSG00000214765 NA NA NA Score=616;Name=lod=424 NA 7p12.3 Score=892;Name=V$OCT1_03 NA NA NA rs56105655 0.17 0.17 0.125 0.176917 0.1769 0.1181 0.1182 0.3548 0.0389 0.17 0.1 0.14 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362847 NA NA NA NA NA NA NA 6.4897666 1003 12 49427652 49427652 C T exonic MLL2 NA synonymous SNV MLL2:NM_003482:exon39:c.G10836A:p.Q3612Q exonic ENSG00000167548 NA synonymous SNV ENSG00000167548:ENST00000301067:exon39:c.G10836A:p.Q3612Q Score=639;Name=lod=526 NA 12q13.12 NA NA NA NA rs3782357 0.41 0.41 0.413 0.44349 0.3489 0.4444 0.2911 0.5726 0.4734 0.35 0.41 0.3 0.56 0.4616 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.185677 NA NA 0.367056 0.528526 ID=COSM431202,COSM431203;OCCURENCE=1(breast) 0.326 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080105.1;CLNDSDB=.;CLNDSDBID=. 6.4891106 1003 4 106604190 106604190 A G exonic INTS12 NA synonymous SNV INTS12:NM_001142471:exon7:c.T1089C:p.P363P,INTS12:NM_020395:exon8:c.T1089C:p.P363P exonic ENSG00000138785 NA synonymous SNV ENSG00000138785:ENST00000451321:exon7:c.T1089C:p.P363P,ENSG00000138785:ENST00000340139:exon8:c.T1089C:p.P363P,ENSG00000138785:ENST00000394735:exon8:c.T1089C:p.P363P Score=597;Name=lod=355 NA 4q24 NA NA NA NA rs35370743 0.04 0.04 0.032 0.0249601 0.0636 NA 0.0562 0.003 0.0184 0.07 NA 0.07 0.0041 0.0475 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.198288 2.198288 NA 0.066977 0.011121 NA 0.029 NA 6.4885896 1003 2 228416712 228416712 A G exonic AGFG1 NA synonymous SNV AGFG1:NM_001135189:exon10:c.A1296G:p.T432T,AGFG1:NM_001135188:exon11:c.A1416G:p.T472T,AGFG1:NM_004504:exon11:c.A1416G:p.T472T,AGFG1:NM_001135187:exon12:c.A1488G:p.T496T exonic ENSG00000173744 NA synonymous SNV ENSG00000173744:ENST00000373671:exon10:c.A1296G:p.T432T,ENSG00000173744:ENST00000310078:exon11:c.A1416G:p.T472T,ENSG00000173744:ENST00000409171:exon11:c.A1416G:p.T472T,ENSG00000173744:ENST00000409315:exon11:c.A1353G:p.T451T,ENSG00000173744:ENST00000409979:exon12:c.A1488G:p.T496T NA NA 2q36.3 NA NA NA NA rs13426457 0.73 0.73 0.732 0.767173 0.7097 0.6885 0.7161 0.8578 0.8211 0.7 0.67 0.74 0.86 0.7469 0.86 . . . . . . . . 0.000 P . . . . -1.084 T 0.000 T . 0.675 7.614 -7.23 -1.864 -0.213 9.299 0.67543 NA NA 0.721744 0.826146 NA 0.812 NA 6.4883226 1003 7 103155705 103155705 A G exonic RELN NA synonymous SNV RELN:NM_005045:exon50:c.T8046C:p.H2682H,RELN:NM_173054:exon50:c.T8046C:p.H2682H exonic ENSG00000189056 NA synonymous SNV ENSG00000189056:ENST00000343529:exon50:c.T8046C:p.H2682H,ENSG00000189056:ENST00000424685:exon50:c.T8046C:p.H2682H,ENSG00000189056:ENST00000428762:exon50:c.T8046C:p.H2682H NA NA 7q22.1 Score=762;Name=V$TCF11MAFG_01 NA NA NA rs2229864 0.57 0.57 0.574 0.648363 0.3459 0.8353 0.4496 0.829 0.6636 0.35 0.8 0.4 0.78 0.4722 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819289 NA NA 0.360814 0.758284 NA 0.514 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081242.3;CLNDSDB=.;CLNDSDBID=. 6.4877526 1003 15 42160635 42160635 C G exonic SPTBN5 NA synonymous SNV SPTBN5:NM_016642:exon33:c.G6018C:p.G2006G exonic ENSG00000137877 NA synonymous SNV ENSG00000137877:ENST00000320955:exon33:c.G6018C:p.G2006G Score=313;Name=lod=25 NA 15q15.1 NA NA NA NA rs2290556 0.05 0.05 0.038 0.0585064 0.0547 0.0159 0.0576 0.0416 0.1299 0.06 0.02 0.06 0.04 0.0748 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624488 NA NA 0.049457 0.033114 NA 0.043 NA 6.4877096 1003 1 201334382 201334382 G A exonic TNNT2 NA synonymous SNV TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I exonic ENSG00000118194 NA synonymous SNV ENSG00000118194:ENST00000360372:exon7:c.C303T:p.I101I,ENSG00000118194:ENST00000236918:exon8:c.C333T:p.I111I,ENSG00000118194:ENST00000367315:exon8:c.C318T:p.I106I,ENSG00000118194:ENST00000367317:exon8:c.C318T:p.I106I,ENSG00000118194:ENST00000438742:exon8:c.C303T:p.I101I,ENSG00000118194:ENST00000367318:exon9:c.C318T:p.I106I,ENSG00000118194:ENST00000367322:exon9:c.C318T:p.I106I,ENSG00000118194:ENST00000421663:exon9:c.C324T:p.I108I,ENSG00000118194:ENST00000422165:exon9:c.C333T:p.I111I,ENSG00000118194:ENST00000509001:exon9:c.C318T:p.I106I,ENSG00000118194:ENST00000455702:exon10:c.C348T:p.I116I,ENSG00000118194:ENST00000458432:exon10:c.C354T:p.I118I Score=573;Name=lod=283 NA 1q32.1 NA NA NA Score=106;Name=189586_0_-_106 rs3729547 0.67 0.67 0.658 0.695088 0.7416 0.5268 0.7997 0.6293 0.8354 0.74 0.56 0.81 0.6 0.7194 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.953821 NA NA 0.718372 0.613255 ID=COSM1337831;OCCURENCE=1(large_intestine) 0.768 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000036579.1|RCV000125571.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.4872946 1003 19 7083629 7083629 A G exonic ZNF557 NA synonymous SNV ZNF557:NM_001044387:exon8:c.A1167G:p.S389S,ZNF557:NM_001044388:exon8:c.A1146G:p.S382S,ZNF557:NM_024341:exon8:c.A1167G:p.S389S exonic ENSG00000130544 NA synonymous SNV ENSG00000130544:ENST00000252840:exon8:c.A1167G:p.S389S,ENSG00000130544:ENST00000414706:exon8:c.A1167G:p.S389S,ENSG00000130544:ENST00000439035:exon8:c.A1146G:p.S382S NA NA 19p13.2 NA Name=KAP1,ZNF274,SETDB1,ETS1 Name=101 NA rs966591 0.44 0.44 0.437 0.445687 0.3777 0.5218 0.438 0.5227 0.3384 0.38 0.48 0.38 0.51 0.415 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509367 NA NA 0.387119 0.503749 NA 0.377 NA 6.4868476 1003 16 81253745 81253745 C G exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon1:c.G231C:p.K77N exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon1:c.G231C:p.K77N,ENSG00000269323:ENST00000599697:exon1:c.G231C:p.K77N NA NA 16q23.2 NA NA NA NA rs9934272 0.32 0.32 0.291 0.307508 0.2903 0.4306 0.3256 0.2587 0.2515 0.31 0.4 0.32 0.26 0.2835 0.4 0.24 T 0.316 B 0.154 B 0.040 N 0.995 P . . 2.3 T -0.893 T 0.000 T 0.095 1.599 11.3 -0.596 0.034 -0.351 5.375 1.598639 1.598639 0.1 0.273421 0.278295 NA 0.268 NA 6.4861124 1003 1 154516477 154516477 G A exonic TDRD10 NA nonsynonymous SNV TDRD10:NM_001098475:exon9:c.G542A:p.R181Q,TDRD10:NM_182499:exon9:c.G542A:p.R181Q exonic ENSG00000163239 NA nonsynonymous SNV ENSG00000163239:ENST00000368480:exon9:c.G542A:p.R181Q,ENSG00000163239:ENST00000368482:exon9:c.G542A:p.R181Q NA NA 1q21.3 NA NA NA NA rs12750774 0.16 0.16 0.165 0.13139 0.3082 0.0308 0.2522 0.0144 0.1258 0.31 0.04 0.23 0.02 0.2324 0.31 0.09 T 0.29 B 0.02 B 0.570 N 1.000 P 0.46 N 1.97 T -0.976 T 0.010 T 0.017 -0.084 3.59 -1.63 -0.453 -0.475 8.531 -0.083717 NA 0.31 0.306628 0.06128 ID=COSM146636;OCCURENCE=1(stomach) 0.239 NA 6.4861054 1003 6 42824907 42824907 G A exonic GLTSCR1L NA synonymous SNV GLTSCR1L:NM_015349:exon9:c.G2187A:p.A729A exonic ENSG00000112624 NA synonymous SNV ENSG00000112624:ENST00000394168:exon9:c.G2187A:p.A729A,ENSG00000112624:ENST00000314073:exon10:c.G2187A:p.A729A Score=558;Name=lod=247 NA 6p21.1 NA NA NA NA rs9471932 0.06 0.06 0.06 0.0605032 0.0716 0.0069 0.0634 0.0968 0.0532 0.07 0.0035 0.06 0.09 0.053 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.544575 1.544575 NA 0.056628 0.092147 ID=COSM451478;OCCURENCE=1(breast) 0.101 NA 6.4854386 1003 11 6652618 6652618 C T exonic DCHS1 NA synonymous SNV DCHS1:NM_003737:exon8:c.G3696A:p.P1232P exonic ENSG00000166341 NA synonymous SNV ENSG00000166341:ENST00000299441:exon8:c.G3696A:p.P1232P Score=383;Name=lod=48 NA 11p15.4 Score=811;Name=V$RFX1_02 NA NA NA rs2659871 0.46 0.46 0.457 0.451478 0.3797 0.4325 0.415 0.5946 0.3773 0.39 0.45 0.42 0.62 0.4153 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.272801 2.272801 NA 0.386522 0.559746 ID=COSM1356255;OCCURENCE=1(large_intestine) 0.572 NA 6.4851446 1003 3 149193684 149193684 T C exonic TM4SF4 NA synonymous SNV TM4SF4:NM_004617:exon2:c.T249C:p.C83C exonic ENSG00000169903 NA synonymous SNV ENSG00000169903:ENST00000305354:exon2:c.T249C:p.C83C Score=487;Name=lod=127 NA 3q25.1 Score=818;Name=V$CEBP_C NA NA NA rs1802837 0.27 0.27 0.252 0.229034 0.3966 0.0704 0.3026 0.23 0.1667 0.41 0.09 0.27 0.25 0.3611 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398055 NA NA 0.423954 0.258462 NA 0.304 NA 6.4850126 1004 1 11132217 11132217 G A exonic EXOSC10 NA synonymous SNV EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R exonic ENSG00000171824 NA synonymous SNV ENSG00000171824:ENST00000304457:exon19:c.C2094T:p.R698R,ENSG00000171824:ENST00000376936:exon20:c.C2169T:p.R723R Score=471;Name=lod=109 NA 1p36.22 Score=792;Name=V$CMYB_01 NA Name=3 NA rs1130683 0.65 0.65 0.624 0.60623 0.7416 0.7837 0.755 0.2035 0.7229 0.75 0.81 0.75 0.23 0.7022 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.301334 2.301334 NA 0.738023 0.288924 NA 0.609 NA 6.4848436 1004 19 10694720 10694720 G A exonic AP1M2 NA synonymous SNV AP1M2:NM_005498:exon2:c.C69T:p.G23G exonic ENSG00000129354 NA synonymous SNV ENSG00000129354:ENST00000250244:exon2:c.C69T:p.G23G,ENSG00000129354:ENST00000590923:exon2:c.C69T:p.G23G,ENSG00000129354:ENST00000591676:exon2:c.C69T:p.G23G NA NA 19p13.2 Score=773;Name=V$HTF_01 NA NA NA rs11542916 0.04 0.04 0.031 0.0239617 0.0716 NA 0.0432 0.0053 0.0112 0.07 NA 0.06 0.01 0.0535 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255087 NA NA 0.056955 0.013237 ID=COSM1390160;OCCURENCE=1(large_intestine) 0.007 NA 6.4846116 1004 15 99500805 99500805 C T UTR3 IGF1R NM_000875:c.*134C>T NA NA ncRNA_UTR3 ENSG00000140443 NA NA NA Score=361;Name=lod=39 NA 15q26.3 Score=774;Name=V$STAT5A_02 NA NA NA rs55945252 0.01 0.01 0.007 0.00579073 0.0159 NA 0.0115 0.0015 0.0031 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.845251 3.845251 NA NA NA NA NA NA 6.4841 1004 13 77751892 77751892 C T exonic MYCBP2 NA synonymous SNV MYCBP2:NM_015057:exon35:c.G5331A:p.L1777L exonic ENSG00000005810 NA synonymous SNV ENSG00000005810:ENST00000407578:exon35:c.G5331A:p.L1777L,ENSG00000005810:ENST00000544440:exon35:c.G5217A:p.L1739L,ENSG00000005810:ENST00000357337:exon36:c.G5217A:p.L1739L Score=585;Name=lod=318 NA 13q22.3 Score=802;Name=V$PBX1_02 NA Name=6 NA rs4885445 0.61 0.61 0.557 0.55611 0.7435 0.5685 0.7709 0.3056 0.5368 0.74 0.57 0.78 0.34 0.6894 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73758 NA NA 0.749767 0.374262 NA 0.522 NA 6.4839996 1004 11 62751812 62751812 T C exonic SLC22A6 NA synonymous SNV SLC22A6:NM_004790:exon1:c.A351G:p.P117P,SLC22A6:NM_153276:exon1:c.A351G:p.P117P,SLC22A6:NM_153277:exon1:c.A351G:p.P117P,SLC22A6:NM_153278:exon1:c.A351G:p.P117P exonic ENSG00000197901 NA synonymous SNV ENSG00000197901:ENST00000360421:exon1:c.A351G:p.P117P,ENSG00000197901:ENST00000377871:exon1:c.A351G:p.P117P,ENSG00000197901:ENST00000421062:exon1:c.A351G:p.P117P,ENSG00000197901:ENST00000458333:exon1:c.A351G:p.P117P,ENSG00000197901:ENST00000540654:exon1:c.A351G:p.P117P NA NA 11q12.3 Score=779;Name=V$YY1_02 NA NA NA rs11568629 0.04 0.04 0.027 0.0223642 0.0646 0.005 0.0303 0.0061 0.0133 0.07 0.01 0.04 0.01 0.0495 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.892423 NA NA 0.068753 0.015902 NA 0.087 NA 6.4838136 1004 16 1260636 1260636 G A exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon20:c.G4023A:p.A1341A,CACNA1H:NM_021098:exon20:c.G4023A:p.A1341A exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon19:c.G4023A:p.A1341A,ENSG00000196557:ENST00000348261:exon20:c.G4023A:p.A1341A,ENSG00000196557:ENST00000358590:exon20:c.G4023A:p.A1341A NA NA 16p13.3 Score=818;Name=V$YY1_02 NA NA NA rs28365124 0.03 0.03 0.025 0.0335463 0.0567 NA 0.0317 NA 0.091 0.06 NA 0.03 NA 0.0606 0.066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179075 NA NA 0.066086 0.009453 NA 0.014 NA 6.4832806 1004 10 97599537 97599537 G C exonic ENTPD1 NA synonymous SNV ENTPD1:NM_001098175:exon3:c.G255C:p.V85V,ENTPD1:NM_001164178:exon3:c.G270C:p.V90V,ENTPD1:NM_001164179:exon3:c.G234C:p.V78V,ENTPD1:NM_001776:exon3:c.G234C:p.V78V exonic ENSG00000138185 NA synonymous SNV ENSG00000138185:ENST00000371205:exon3:c.G234C:p.V78V,ENSG00000138185:ENST00000371207:exon3:c.G270C:p.V90V,ENSG00000138185:ENST00000453258:exon3:c.G255C:p.V85V NA NA 10q24.1 Score=751;Name=V$TCF11MAFG_01 NA NA NA rs61731067 0.05 0.05 0.049 0.0519169 0.0596 0.0407 0.0663 0.0234 0.0838 0.06 0.06 0.09 0.02 0.0596 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598687 NA NA 0.064419 0.034952 NA 0.043 NA 6.4830476 1004 4 84191031 84191031 A G exonic COQ2 NA synonymous SNV COQ2:NM_015697:exon5:c.T894C:p.D298D exonic ENSG00000173085 NA synonymous SNV ENSG00000173085:ENST00000503915:exon4:c.T435C:p.D145D,ENSG00000173085:ENST00000311461:exon5:c.T744C:p.D248D,ENSG00000173085:ENST00000311469:exon5:c.T894C:p.D298D,ENSG00000173085:ENST00000439031:exon5:c.T783C:p.D261D Score=601;Name=lod=368 NA 4q21.23 Score=782;Name=V$MEF2_02 NA NA NA rs6535454 0.79 0.79 0.781 0.778155 0.7435 0.871 0.6801 0.8283 0.7198 0.73 0.87 0.75 0.79 0.738 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051294 NA NA 0.702468 0.814113 NA 0.812 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116808.2|RCV000124533.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.4826986 1004 1 109810183 109810183 C T exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon16:c.C6027T:p.R2009R exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon16:c.C6027T:p.R2009R Score=596;Name=lod=353 NA 1p13.3 NA NA NA NA rs61761209 0.04 0.04 0.023 0.0351438 0.0805 0.001 0.0447 0.0023 0.0613 0.08 0.0017 0.06 0.002 0.0493 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137723 NA NA 0.054535 0.011575 NA 0.014 NA 6.4823316 1004 6 133138010 133138010 T C ncRNA_exonic SNORD100 NA NA NA ncRNA_exonic ENSG00000221500 NA NA NA Score=529;Name=lod=189 NA 6q23.2 NA Name=CTCF,CTCF_(C-20) Name=12 NA rs9389034 0.43 0.43 0.419 0.448283 0.3767 0.2837 0.598 0.5688 0.4223 0.37 0.29 0.59 0.56 0.4197 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.573547 2.573547 NA 0.387996 0.535388 NA 0.399 NA 6.4822706 1004 8 23001988 23001988 A G exonic TNFRSF10D NA nonsynonymous SNV TNFRSF10D:NM_003840:exon7:c.T929C:p.L310S exonic ENSG00000173530 NA nonsynonymous SNV ENSG00000173530:ENST00000312584:exon7:c.T929C:p.L310S NA NA 8p21.3 NA NA NA NA rs1133782 0.69 0.69 0.643 0.700879 0.5984 0.9077 0.7147 0.5454 0.7935 0.6 0.94 0.69 0.53 0.652 0.94 0.12 T . . . . 0.592 N 1.000 P . . -1.26 T -0.962 T 0.000 T 0.026 -2.411 0.003 -0.341 -0.503 -3.687 2.805 -2.411191 NA 1 0.601163 0.562188 NA 0.638 NA 6.4817704 1004 11 102272277 102272277 G T exonic TMEM123 NA synonymous SNV TMEM123:NM_052932:exon4:c.C595A:p.R199R exonic ENSG00000152558 NA synonymous SNV ENSG00000152558:ENST00000361236:exon3:c.C538A:p.R180R,ENSG00000152558:ENST00000398136:exon4:c.C595A:p.R199R,ENSG00000152558:ENST00000528969:exon4:c.C331A:p.R111R,ENSG00000152558:ENST00000532161:exon4:c.C331A:p.R111R Score=425;Name=lod=71 NA 11q22.2 NA NA NA NA rs12275185 0.05 0.05 0.05 0.0365415 0.0626 0.004 0.0331 0.062 0.0112 0.07 0.0035 0.03 0.08 0.0508 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893214 NA NA 0.071972 0.068369 NA 0.014 NA 6.4812946 1004 4 187540996 187540996 C T exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon10:c.G6744A:p.P2248P exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon10:c.G6744A:p.P2248P NA NA 4q35.2 Score=788;Name=V$MYOGNF1_01 NA NA NA rs11931107 0.05 0.05 0.05 0.0423323 0.0676 0.0278 0.0317 0.0424 0.0389 0.08 0.04 0.04 0.03 0.0568 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.512258 NA NA 0.061091 0.045611 NA 0.036 NA 6.4811756 1004 14 81259254 81259254 A T exonic CEP128 NA synonymous SNV CEP128:NM_152446:exon13:c.T1410A:p.A470A exonic ENSG00000100629 NA synonymous SNV ENSG00000100629:ENST00000281129:exon13:c.T1410A:p.A470A,ENSG00000100629:ENST00000555265:exon14:c.T1410A:p.A470A Score=441;Name=lod=83 NA 14q31.1 NA NA NA NA rs45535733 0.04 0.04 0.04 0.0297524 0.0696 0.0288 0.0346 0.0015 0.0245 0.07 0.02 0.03 0.0041 0.0459 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347614 NA NA 0.070116 0.01044 NA 0.072 NA 6.4810506 1004 9 136227260 136227260 A G exonic SURF2 NA nonsynonymous SNV SURF2:NM_017503:exon5:c.A637G:p.S213G exonic ENSG00000148291 NA nonsynonymous SNV ENSG00000148291:ENST00000371964:exon5:c.A637G:p.S213G NA NA 9q34.2 NA NA NA NA rs12763 0.69 0.69 0.734 0.675919 0.6034 0.7024 0.634 0.8396 0.5317 0.59 0.73 0.65 0.83 0.6272 0.83 1 T 0.0 B 0.0 B 0.537 N 1.000 P -1.1 N 1.61 T -0.962 T 0.000 T 0.015 -2.07 0.006 0.96 -0.980 0.225 4.836 -2.069712 NA 0.63 0.621744 0.78847 NA 0.696 NA 6.4809894 1004 3 36898036 36898036 G A exonic TRANK1 NA synonymous SNV TRANK1:NM_014831:exon12:c.C3045T:p.Y1015Y exonic ENSG00000168016 NA synonymous SNV ENSG00000168016:ENST00000428977:exon2:c.C1395T:p.Y465Y,ENSG00000168016:ENST00000301807:exon12:c.C1395T:p.Y465Y,ENSG00000168016:ENST00000429976:exon12:c.C3045T:p.Y1015Y Score=309;Name=lod=24 NA 3p22.2 NA NA NA NA rs62245253 0.03 0.03 0.024 0.0233626 0.0666 NA 0.0346 0.0038 0.0215 0.07 NA 0.02 0.01 0.0509 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.02964 NA NA 0.068393 0.01279 NA 0.014 NA 6.4807736 1004 3 179424862 179424862 A G exonic USP13 NA synonymous SNV USP13:NM_003940:exon5:c.A618G:p.P206P exonic ENSG00000058056 NA synonymous SNV ENSG00000058056:ENST00000263966:exon5:c.A618G:p.P206P,ENSG00000058056:ENST00000496897:exon5:c.A423G:p.P141P Score=491;Name=lod=132 NA 3q26.33 NA NA NA NA rs16830742 0.05 0.05 0.048 0.0501198 0.0646 0.003 0.0403 0.059 0.0787 0.07 0.0017 0.05 0.06 0.0528 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.675825 1.675825 NA 0.068721 0.045847 NA 0.029 NA 6.4805456 1004 22 17600977 17600977 G A exonic CECR6 NA synonymous SNV CECR6:NM_031890:exon1:c.C1041T:p.F347F exonic ENSG00000183307 NA synonymous SNV ENSG00000183307:ENST00000331437:exon1:c.C1041T:p.F347F Score=681;Name=lod=779 NA 22q11.1 Score=834;Name=V$HNF4_01_B NA NA NA rs5994165 0.47 0.47 0.429 0.476837 0.3847 0.495 0.5101 0.4856 0.5174 0.39 0.51 0.49 0.52 0.4307 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785694 NA NA 0.371858 0.472058 NA 0.188 NA 6.4794086 1004 12 52709880 52709880 A G exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon7:c.T1059C:p.A353A exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon7:c.T1059C:p.A353A NA NA 12q13.13 Score=832;Name=V$ER_Q6 Name=CTCF NA NA rs2852468 0.36 0.36 0.249 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 0.3783 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286073 NA NA 0.400233 0.476623 ID=COSM147520;OCCURENCE=1(stomach) 0.42 NA 6.4786336 1004 9 123367681 123367681 C G exonic MEGF9 NA synonymous SNV MEGF9:NM_001080497:exon6:c.G1596C:p.V532V exonic ENSG00000106780 NA synonymous SNV ENSG00000106780:ENST00000373930:exon6:c.G1596C:p.V532V,ENSG00000106780:ENST00000426959:exon8:c.G1707C:p.V569V Score=617;Name=lod=430 NA 9q33.2 NA NA NA NA rs56019987 0.03 0.03 0.026 0.0223642 0.0706 NA 0.0303 0.0038 0.0153 0.07 NA 0.03 0.01 0.0504 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050105 NA NA 0.06718 0.013716 NA 0.007 NA 6.4784866 1004 14 20844383 20844383 C T exonic TEP1 NA synonymous SNV TEP1:NM_007110:exon42:c.G6129A:p.T2043T exonic ENSG00000129566 NA synonymous SNV ENSG00000129566:ENST00000545983:exon13:c.G1143A:p.T381T,ENSG00000129566:ENST00000555008:exon30:c.G4158A:p.T1386T,ENSG00000129566:ENST00000556935:exon40:c.G5805A:p.T1935T,ENSG00000129566:ENST00000262715:exon42:c.G6129A:p.T2043T NA NA 14q11.2 Score=907;Name=V$AP1FJ_Q2 NA NA NA rs2228042 0.03 0.03 0.038 0.0375399 0.0676 0.002 0.0346 0.0083 0.0849 0.07 NA 0.03 0.0041 0.0559 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.096181 NA NA 0.06593 0.021108 NA 0.007 NA 6.4772366 1004 12 124317874 124317874 C T exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon26:c.C4405T:p.L1469L exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon26:c.C4405T:p.L1469L Score=289;Name=lod=20 NA 12q24.31 NA NA NA NA rs78764267 0.04 0.04 0.032 0.0305511 0.0666 0.001 0.0389 0.0272 0.0225 0.07 NA 0.05 0.03 0.0647 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521546 NA NA 0.058157 0.042318 NA 0.051 NA 6.4772096 1004 15 83215251 83215251 T C exonic CPEB1 NA synonymous SNV CPEB1:NM_001079535:exon9:c.A1290G:p.L430L,CPEB1:NM_001079533:exon10:c.A1305G:p.L435L,CPEB1:NM_001079534:exon10:c.A1290G:p.L430L,CPEB1:NM_030594:exon11:c.A1515G:p.L505L exonic ENSG00000214575,ENSG00000260836 NA synonymous SNV ENSG00000214575:ENST00000398592:exon9:c.A837G:p.L279L,ENSG00000214575:ENST00000423133:exon9:c.A1290G:p.L430L,ENSG00000214575:ENST00000261723:exon10:c.A1524G:p.L508L,ENSG00000214575:ENST00000398591:exon10:c.A1305G:p.L435L,ENSG00000214575:ENST00000564522:exon10:c.A1290G:p.L430L,ENSG00000214575:ENST00000450751:exon11:c.A1290G:p.L430L,ENSG00000214575:ENST00000562019:exon11:c.A1530G:p.L510L,ENSG00000214575:ENST00000563800:exon11:c.A1596G:p.L532L,ENSG00000214575:ENST00000568128:exon11:c.A1515G:p.L505L,ENSG00000214575:ENST00000568757:exon12:c.A1290G:p.L430L Score=633;Name=lod=498 NA 15q25.2 Score=952;Name=V$HSF2_01 NA NA NA rs1267657 0.42 0.42 0.424 0.441494 0.4155 0.4663 0.3905 0.4418 0.4785 0.43 0.45 0.39 0.4 0.3991 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092854 NA NA 0.374879 0.407206 NA 0.37 NA 6.4771876 1004 20 1703134 1703134 C T intergenic SIRPG,LOC100289473 dist=64709;dist=50877 NA NA ncRNA_exonic ENSG00000234282 NA NA NA Score=284;Name=lod=19 NA 20p13 NA Name=BATF,RXRA,MEF2C_(SC-13268),PU.1,SP1,IRF4_(M-17),MEF2A,TCF12,USF-1,NFKB,EBF Name=15 NA rs202512 0.49 0.49 0.463 0.493411 0.5229 0.3681 0.6182 0.562 0.411 0.51 0.4 0.56 0.53 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.982568 1.982568 NA NA NA NA 0.522 NA 6.4771 1004 4 89607932 89607932 G A exonic HERC3 NA synonymous SNV HERC3:NM_001271602:exon21:c.G2199A:p.E733E,HERC3:NM_014606:exon22:c.G2553A:p.E851E exonic ENSG00000138641 NA synonymous SNV ENSG00000138641:ENST00000512194:exon6:c.G732A:p.E244E,ENSG00000138641:ENST00000543130:exon10:c.G885A:p.E295E,ENSG00000138641:ENST00000264345:exon20:c.G2553A:p.E851E,ENSG00000138641:ENST00000402738:exon22:c.G2553A:p.E851E Score=550;Name=lod=229 NA 4q22.1 NA NA NA NA rs7698491 0.08 0.08 0.079 0.128794 0.0557 0.0159 0.0346 0.2186 0.2658 0.06 0.02 0.04 0.2 0.0832 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824584 NA NA 0.051047 0.202224 NA 0.087 NA 6.4767196 1004 13 52520507 52520507 C T exonic ATP7B NA synonymous SNV ATP7B:NM_001005918:exon9:c.G2352A:p.T784T,ATP7B:NM_000053:exon13:c.G2973A:p.T991T,ATP7B:NM_001243182:exon14:c.G2640A:p.T880T exonic ENSG00000123191 NA synonymous SNV ENSG00000123191:ENST00000400370:exon5:c.G1683A:p.T561T,ENSG00000123191:ENST00000417240:exon7:c.G789A:p.T263T,ENSG00000123191:ENST00000344297:exon9:c.G2352A:p.T784T,ENSG00000123191:ENST00000448424:exon12:c.G2739A:p.T913T,ENSG00000123191:ENST00000242839:exon13:c.G2973A:p.T991T,ENSG00000123191:ENST00000400366:exon14:c.G2640A:p.T880T NA NA 13q14.3 NA NA NA NA rs1801246 0.03 0.03 0.022 0.0249601 0.0596 NA 0.0317 0.0023 0.0409 0.06 NA 0.03 0.01 0.058 0.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759533 NA NA 0.073007 0.011006 NA 0.08 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029362.1|RCV000078047.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 6.4760596 1004 8 22428658 22428658 T C exonic SORBS3 NA nonsynonymous SNV SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T exonic ENSG00000120896 NA nonsynonymous SNV ENSG00000120896:ENST00000523348:exon3:c.T500C:p.I167T,ENSG00000120896:ENST00000428103:exon7:c.T641C:p.I214T,ENSG00000120896:ENST00000523965:exon7:c.T641C:p.I214T,ENSG00000120896:ENST00000240123:exon18:c.T1667C:p.I556T NA NA 8p21.3 NA NA NA NA rs2449331 0.92 0.92 0.909 0.907548 0.9602 1 0.9524 0.7277 0.9693 0.96 1 0.96 0.76 0.9451 1 0.91 T 0.0 B 0.0 B 0.030 N 1.000 P -2.045 N 3.45 T -0.978 T 0.000 T 0.489 -2.292 0.004 4.68 0.726 1.483 7.689 -2.291552 NA 0.38 0.952375 0.749092 NA 0.761 NA 6.4756584 1004 12 95879734 95879734 C T exonic METAP2 NA synonymous SNV METAP2:NM_006838:exon4:c.C405T:p.C135C exonic ENSG00000111142 NA synonymous SNV ENSG00000111142:ENST00000549808:exon2:c.C111T:p.C37C,ENSG00000111142:ENST00000261220:exon3:c.C336T:p.C112C,ENSG00000111142:ENST00000550777:exon3:c.C297T:p.C99C,ENSG00000111142:ENST00000323666:exon4:c.C405T:p.C135C,ENSG00000111142:ENST00000535095:exon4:c.C405T:p.C135C,ENSG00000111142:ENST00000546753:exon4:c.C336T:p.C112C,ENSG00000111142:ENST00000551840:exon4:c.C402T:p.C134C,ENSG00000111142:ENST00000553151:exon4:c.C333T:p.C111C Score=572;Name=lod=282 NA 12q22 NA NA NA NA rs2305293 0.04 0.04 0.029 0.0367412 0.0716 0.0238 0.0317 0.0038 0.0624 0.07 0.02 0.03 0.01 0.0519 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212654 NA NA 0.067907 0.01498 NA 0.022 NA 6.4752596 1005 1 15441029 15441029 T C exonic KAZN NA synonymous SNV KAZN:NM_201628:exon15:c.T2226C:p.Y742Y exonic ENSG00000189337 NA synonymous SNV ENSG00000189337:ENST00000376030:exon15:c.T2226C:p.Y742Y Score=549;Name=lod=227 NA 1p36.21 NA NA NA NA rs34135602 0.03 0.03 0.031 0.0283546 0.0626 0.002 0.0533 0.003 0.0368 0.06 0.0035 0.06 NA 0.0663 0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14514 NA NA 0.062791 0.010213 NA 0.043 NA 6.4749756 1005 12 96380975 96380975 A G exonic HAL NA synonymous SNV HAL:NM_001258333:exon11:c.T297C:p.N99N,HAL:NM_001258334:exon12:c.T921C:p.N307N,HAL:NM_002108:exon12:c.T921C:p.N307N exonic ENSG00000084110 NA synonymous SNV ENSG00000084110:ENST00000541929:exon11:c.T297C:p.N99N,ENSG00000084110:ENST00000552509:exon11:c.T885C:p.N295N,ENSG00000084110:ENST00000261208:exon12:c.T921C:p.N307N,ENSG00000084110:ENST00000538703:exon12:c.T921C:p.N307N NA NA 12q23.1 Score=807;Name=V$PAX4_01,V$HEN1_01 NA NA NA rs11108364 0.1 0.1 0.1 0.0984425 0.0646 0.0952 0.0461 0.1952 0.0429 0.06 0.1 0.06 0.18 0.068 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802043 NA NA 0.059419 0.184294 NA 0.13 NA 6.4746476 1005 14 93170993 93170993 C T exonic LGMN NA synonymous SNV LGMN:NM_005606:exon13:c.G1251A:p.P417P,LGMN:NM_001008530:exon14:c.G1251A:p.P417P exonic ENSG00000100600 NA synonymous SNV ENSG00000100600:ENST00000557434:exon12:c.G1080A:p.P360P,ENSG00000100600:ENST00000334869:exon13:c.G1251A:p.P417P,ENSG00000100600:ENST00000393218:exon14:c.G1251A:p.P417P NA NA 14q32.12 NA Name=PAX5-N19,NFKB,ZEB1_(SC-25388),IRF4_(M-17),PU.1,BATF,EBF1_(C-8) Name=16 NA rs9791 0.3 0.3 0.269 0.281949 0.4245 0.0754 0.5519 0.2678 0.1759 0.42 0.07 0.48 0.24 0.3563 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.604832 1.604832 NA 0.411628 0.286882 NA 0.275 NA 6.4742386 1005 5 145393364 145393364 C T exonic SH3RF2 NA nonsynonymous SNV SH3RF2:NM_152550:exon5:c.C799T:p.R267C exonic ENSG00000156463 NA nonsynonymous SNV ENSG00000156463:ENST00000511217:exon4:c.C799T:p.R267C,ENSG00000156463:ENST00000359120:exon5:c.C799T:p.R267C NA NA 5q32 Score=757;Name=V$E2F_01 NA NA NA rs758037 0.61 0.61 0.598 0.609026 0.6312 0.7212 0.5692 0.3986 0.7832 0.65 0.71 0.61 0.44 0.6182 0.71 0.06 T 0.004 B 0.0 B 0.224 N 1.000 P 0.345 N 3.58 T -1.083 T 0.000 T 0.048 1.234 10.01 1.22 -0.025 0.651 5.682 1.233918 1.233918 0.11 0.609884 0.437131 NA 0.507 NA 6.4740494 1005 12 8975901 8975901 C T exonic A2ML1 NA synonymous SNV A2ML1:NM_144670:exon2:c.C186T:p.T62T exonic ENSG00000166535 NA synonymous SNV ENSG00000166535:ENST00000299698:exon2:c.C186T:p.T62T Score=376;Name=lod=45 NA 12p13.31 NA NA NA NA rs17792974 0.1 0.1 0.092 0.130192 0.0567 0.1964 0.0504 0.0484 0.3047 0.05 0.23 0.05 0.04 0.0892 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221006 NA NA 0.046955 0.042448 NA 0.072 NA 6.4738116 1005 1 115399884 115399884 C G exonic SYCP1 NA synonymous SNV SYCP1:NM_003176:exon4:c.C225G:p.P75P exonic ENSG00000198765 NA synonymous SNV ENSG00000198765:ENST00000369518:exon4:c.C225G:p.P75P,ENSG00000198765:ENST00000369522:exon4:c.C225G:p.P75P,ENSG00000198765:ENST00000455987:exon4:c.C225G:p.P75P Score=499;Name=lod=142 NA 1p13.2 NA NA NA NA rs17544210 0.04 0.04 0.019 0.0383387 0.0686 0.0159 0.0519 0.0121 0.0562 0.06 0.02 0.06 0.01 0.0552 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250571 NA NA 0.069483 0.022923 NA 0.101 NA 6.4733836 1005 6 117045491 117045491 T C exonic KPNA5 NA synonymous SNV KPNA5:NM_002269:exon10:c.T952C:p.L318L exonic ENSG00000196911 NA synonymous SNV ENSG00000196911:ENST00000356348:exon10:c.T952C:p.L318L,ENSG00000196911:ENST00000368564:exon10:c.T952C:p.L318L Score=646;Name=lod=563 NA 6q22.1 NA NA NA NA rs2243368 0.03 0.03 0.024 0.0205671 0.0755 NA 0.0259 0.0038 0.0041 0.07 NA 0.03 0.01 0.0467 0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016415 NA NA 0.071478 0.01566 NA 0.072 NA 6.4729886 1005 11 85968623 85968623 C T exonic EED NA synonymous SNV EED:NM_003797:exon6:c.C619T:p.L207L,EED:NM_152991:exon6:c.C619T:p.L207L exonic ENSG00000074266 NA synonymous SNV ENSG00000074266:ENST00000263360:exon6:c.C619T:p.L207L,ENSG00000074266:ENST00000327320:exon6:c.C619T:p.L207L,ENSG00000074266:ENST00000351625:exon6:c.C619T:p.L207L,ENSG00000074266:ENST00000528180:exon6:c.C619T:p.L207L Score=659;Name=lod=637 NA 11q14.2 Score=931;Name=V$MEIS1_01 NA NA NA rs974144 0.31 0.31 0.273 0.294728 0.4225 0.3135 0.2565 0.1203 0.407 0.42 0.33 0.27 0.14 0.3724 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977272 NA NA 0.39893 0.178928 ID=COSM429983;OCCURENCE=1(breast) 0.37 NA 6.4728366 1005 19 9267292 9267292 G A exonic ZNF317 NA synonymous SNV ZNF317:NM_001190791:exon3:c.G30A:p.T10T,ZNF317:NM_020933:exon3:c.G30A:p.T10T exonic ENSG00000130803 NA synonymous SNV ENSG00000130803:ENST00000247956:exon3:c.G30A:p.T10T,ENSG00000130803:ENST00000360385:exon3:c.G30A:p.T10T,ENSG00000130803:ENST00000591278:exon3:c.G30A:p.T10T NA NA 19p13.2 NA Name=PU.1 NA NA rs35822846 0.09 0.09 0.088 0.0834665 0.0527 0.0972 0.0821 0.1248 0.046 0.06 0.1 0.08 0.14 0.0728 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333352 NA NA 0.068721 0.12483 NA 0.08 NA 6.4724456 1005 12 48376291 48376291 G A exonic COL2A1 NA synonymous SNV COL2A1:NM_033150:exon33:c.C2088T:p.G696G,COL2A1:NM_001844:exon34:c.C2295T:p.G765G exonic ENSG00000139219 NA synonymous SNV ENSG00000139219:ENST00000337299:exon33:c.C2088T:p.G696G,ENSG00000139219:ENST00000380518:exon34:c.C2295T:p.G765G Score=509;Name=lod=156 NA 12q13.11 Score=785;Name=V$ROAZ_01 NA NA NA rs2276454 0.42 0.42 0.408 0.429712 0.3926 0.5556 0.3501 0.3563 0.4939 0.39 0.58 0.36 0.33 0.3958 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098035 NA NA 0.406512 0.348389 NA 0.399 NA 6.4717546 1005 5 176917897 176917897 C T exonic PDLIM7 NA synonymous SNV PDLIM7:NM_005451:exon7:c.G546A:p.P182P,PDLIM7:NM_203352:exon7:c.G444A:p.P148P,PDLIM7:NM_213636:exon7:c.G546A:p.P182P exonic ENSG00000196923 NA synonymous SNV ENSG00000196923:ENST00000355572:exon7:c.G546A:p.P182P,ENSG00000196923:ENST00000355841:exon7:c.G546A:p.P182P,ENSG00000196923:ENST00000356618:exon7:c.G546A:p.P182P,ENSG00000196923:ENST00000359895:exon7:c.G444A:p.P148P,ENSG00000196923:ENST00000393551:exon7:c.G546A:p.P182P,ENSG00000196923:ENST00000486828:exon7:c.G546A:p.P182P,ENSG00000196923:ENST00000505074:exon7:c.G546A:p.P182P Score=544;Name=lod=216 NA 5q35.3 NA NA NA NA rs1132445 0.04 0.04 0.038 0.0235623 0.0646 0.001 0.0375 0.0061 0.0184 0.07 0.0017 0.05 0.01 0.0541 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862962 NA NA 0.076279 0.01566 NA 0.007 NA 6.4716876 1005 2 86830876 86830876 C A UTR3 RNF103 NM_005667:c.*90G>T,NM_001198951:c.*90G>T NA NA ncRNA_UTR3 ENSG00000239305 NA NA NA Score=659;Name=lod=638 NA 2p11.2 Score=862;Name=V$HFH1_01 NA NA NA rs3755000 0.05 0.05 0.046 0.0473243 0.0288 0.0526 0.0245 0.0893 0.0204 0.03 0.03 0.03 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.586027 2.586027 NA NA NA NA 0.051 NA 6.4712 1005 22 19132061 19132061 C T exonic DGCR14 NA synonymous SNV DGCR14:NM_022719:exon1:c.G93A:p.A31A exonic ENSG00000100056 NA synonymous SNV ENSG00000100056:ENST00000252137:exon1:c.G93A:p.A31A,ENSG00000100056:ENST00000434568:exon1:c.G93A:p.A31A NA NA 22q11.21 NA Name=HMGN3,TAF1,E2F6_(H-50),YY1_(C-20),Pol2,NRSF,CCNT2,HEY1,THAP1_(SC-98174),Pol2(b),Sin3Ak-20,ZNF263,Pol2-4H8,YY1 NA NA rs2298274 0.09 0.09 0.093 0.0810703 0.0676 0.1468 0.0634 0.0726 0.0511 0.07 0.15 0.07 0.07 0.0699 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.429622 2.429622 NA 0.057974 0.076853 NA 0.109 NA 6.4711926 1005 15 42579984 42579984 G A exonic GANC NA synonymous SNV GANC:NM_198141:exon4:c.G297A:p.P99P exonic ENSG00000214013 NA synonymous SNV ENSG00000214013:ENST00000318010:exon4:c.G297A:p.P99P,ENSG00000214013:ENST00000562859:exon5:c.G297A:p.P99P,ENSG00000214013:ENST00000566442:exon5:c.G297A:p.P99P Score=477;Name=lod=116 NA 15q15.1 NA NA NA NA rs16973008 0.11 0.11 0.1 0.147165 0.0477 0.0972 0.2911 0.1997 0.1278 0.04 0.06 0.23 0.21 0.0916 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.016992 3.016992 NA 0.056525 0.17635 NA 0.152 NA 6.4708416 1005 4 15964863 15964863 G T upstream FGFBP2 NA NA NA intronic ENSG00000007062 NA NA NA NA Name=QT interval 4p15.32 NA Name=CTCF,Rad21,CTCF_(C-20),CTCF_(SC-5916),SMC3_(ab9263) Name=111 NA rs4698433 0.3 0.3 0.258 0.345647 0.3628 0.2847 0.5043 0.1339 0.5644 0.34 0.25 0.48 0.16 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17971 NA NA NA NA NA 0.435 NA 6.4705333 1005 6 29796369 29796369 A T exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon4:c.A393T:p.G131G exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000360323:exon3:c.A393T:p.G131G,ENSG00000204632:ENST00000376828:exon4:c.A408T:p.G136G,ENSG00000204632:ENST00000428701:exon4:c.A393T:p.G131G NA NA 6p22.1 NA NA Name=2 NA rs3873252 0.06 0.06 0.036 0.0876597 0.0596 0.1954 0.0375 0.0008 0.1585 0.06 0.15 0.03 0.002 0.0738 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058974 NA NA 0.062938 0.014238 NA 0.094 NA 6.4703286 1005 1 152484129 152484129 G A exonic LCE5A NA nonsynonymous SNV LCE5A:NM_178438:exon2:c.G119A:p.C40Y exonic ENSG00000186207 NA nonsynonymous SNV ENSG00000186207:ENST00000334269:exon2:c.G119A:p.C40Y NA NA 1q21.3 NA NA NA NA rs2105117 0.56 0.56 0.542 0.521965 0.6223 0.6111 0.5346 0.3132 0.6002 0.63 0.64 0.58 0.33 0.6103 0.64 0.05 D 0.014 B 0.003 B . . 1.000 P 1.7 L 3.74 T -0.971 T 0.005 T 0.108 -0.697 0.982 0.898 0.324 0.308 4.283 -0.696693 NA NA 0.630814 0.351566 NA 0.63 NA 6.4699194 1005 9 100843417 100843417 A G intronic NANS,TRIM14 NA NA NA exonic ENSG00000095380 NA stoploss ENSG00000095380:ENST00000427646:exon2:c.A347G:p.X116W NA NA 9q22.33 NA NA NA NA rs4237190 0.57 0.57 0.585 0.653554 0.4751 0.3641 0.6657 0.9561 0.7178 0.47 0.37 0.59 0.93 0.5552 0.93 . . . . . . . . 1.000 P . . . . . . . . . 0.462 6.51 2.06 0.167 -0.329 5.460 0.462238 NA 0.1 NA NA NA 0.659 NA 6.4697 1005 9 125330125 125330125 C G exonic OR1L8 NA nonsynonymous SNV OR1L8:NM_001004454:exon1:c.G632C:p.R211P exonic ENSG00000171496 NA nonsynonymous SNV ENSG00000171496:ENST00000304865:exon1:c.G632C:p.R211P NA NA 9q33.2 NA NA NA NA rs10739614 0.74 0.74 0.739 0.722444 0.6143 0.9841 0.6513 0.7186 0.6196 0.6 0.99 0.65 0.72 0.6458 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.915 N 2.04 T -0.962 T 0.000 T 0.096 -2.493 0.003 3.6 0.678 0.231 10.799 -2.493135 NA 1 0.603953 0.69882 NA 0.71 NA 6.4692804 1005 20 46279866 46279866 A G exonic NCOA3 NA synonymous SNV NCOA3:NM_001174087:exon20:c.A3789G:p.Q1263Q,NCOA3:NM_001174088:exon20:c.A3765G:p.Q1255Q,NCOA3:NM_006534:exon20:c.A3780G:p.Q1260Q,NCOA3:NM_181659:exon20:c.A3792G:p.Q1264Q exonic ENSG00000124151 NA synonymous SNV ENSG00000124151:ENST00000341724:exon19:c.A3570G:p.Q1190Q,ENSG00000124151:ENST00000371997:exon20:c.A3765G:p.Q1255Q,ENSG00000124151:ENST00000371998:exon20:c.A3792G:p.Q1264Q,ENSG00000124151:ENST00000372004:exon20:c.A3780G:p.Q1260Q Score=592;Name=lod=338 NA 20q13.12 NA NA NA NA rs28529067 0.13 0.13 0.081 0.119609 0.0726 0.0873 0.0663 0.2186 0.1053 0.08 0.09 0.07 0.31 0.0741 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.756906 NA NA 0.050698 0.127442 ID=COSM1412259;OCCURENCE=1(large_intestine) 0.014 NA 6.4692686 1005 2 228758580 228758580 G C exonic DAW1 NA synonymous SNV DAW1:NM_178821:exon5:c.G387C:p.T129T exonic ENSG00000123977 NA synonymous SNV ENSG00000123977:ENST00000309931:exon5:c.G387C:p.T129T,ENSG00000123977:ENST00000373666:exon5:c.G387C:p.T129T,ENSG00000123977:ENST00000545118:exon6:c.G342C:p.T114T NA NA 2q36.3 Score=798;Name=V$PAX4_01 NA NA NA rs16824157 0.07 0.07 0.063 0.0696885 0.0686 0.0734 0.0447 0.0817 0.0685 0.07 0.06 0.05 0.08 0.0648 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.286544 1.286544 NA 0.064302 0.074217 NA 0.065 NA 6.4689646 1005 6 47646842 47646842 A G exonic GPR111 NA nonsynonymous SNV GPR111:NM_153839:exon5:c.A239G:p.Q80R exonic ENSG00000164393 NA nonsynonymous SNV ENSG00000164393:ENST00000398742:exon3:c.A239G:p.Q80R,ENSG00000164393:ENST00000296862:exon4:c.A443G:p.Q148R,ENSG00000164393:ENST00000507065:exon4:c.A239G:p.Q80R,ENSG00000164393:ENST00000467205:exon5:c.A239G:p.Q80R NA NA 6p12.3 Score=727;Name=V$PAX4_04 NA NA NA rs6907125 0.48 0.48 0.489 0.516973 0.6272 0.3085 0.4366 0.472 0.7362 0.62 0.3 0.49 0.49 0.5935 0.65 0.18 T 0.0 B 0.001 B 0.679 N 1.000 P -0.895 N 2.1 T -0.987 T 0.011 T 0.02 -0.723 0.897 -1.76 -0.415 0.159 6.430 -0.723488 NA 0.33 0.646508 0.474095 NA 0.435 NA 6.4661254 1005 10 103368654 103368654 T C exonic DPCD NA nonsynonymous SNV DPCD:NM_015448:exon5:c.T467C:p.L156S exonic ENSG00000166171 NA nonsynonymous SNV ENSG00000166171:ENST00000370151:exon5:c.T467C:p.L156S,ENSG00000166171:ENST00000370147:exon6:c.T508C:p.C170R,ENSG00000166171:ENST00000370148:exon6:c.T508C:p.C170R NA NA 10q24.32 NA NA NA NA rs7006 0.25 0.25 0.247 0.227236 0.3111 0.1637 0.2233 0.2882 0.1268 0.3 0.14 0.23 0.32 0.2499 0.32 0.79 T 0.0 B 0.001 B 0.032 N 0.001 P 0.205 N 1.63 T -0.933 T 0.000 T 0.027 2.998 16 -0.552 -0.384 0.568 10.332 2.997571 2.997571 0 0.30686 0.307308 NA 0.297 NA 6.4654734 1005 17 16525824 16525824 T C exonic ZNF624 NA synonymous SNV ZNF624:NM_020787:exon6:c.A2376G:p.L792L exonic ENSG00000197566 NA synonymous SNV ENSG00000197566:ENST00000311331:exon6:c.A2376G:p.L792L NA NA 17p11.2 NA Name=ZNF274,SETDB1,KAP1 NA NA rs62072858 0.04 0.04 0.034 0.0301518 0.0845 NA 0.0432 0.0121 0.0204 0.08 NA 0.05 0.01 0.0494 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277815 NA NA 0.067326 0.019292 NA 0.007 NA 6.4654406 1006 9 139397707 139397707 G A exonic NOTCH1 NA synonymous SNV NOTCH1:NM_017617:exon27:c.C5094T:p.D1698D exonic ENSG00000148400 NA synonymous SNV ENSG00000148400:ENST00000277541:exon27:c.C5094T:p.D1698D Score=524;Name=lod=179 NA 9q34.3 NA Name=CTCF NA NA rs10521 0.58 0.58 0.553 0.553514 0.4046 0.9018 0.5115 0.5552 0.3753 0.4 0.88 0.51 0.58 0.4443 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737093 NA NA 0.353369 0.517096 ID=COSM1461158,COSM33747;OCCURENCE=11(haematopoietic_and_lymphoid_tissue),1(lung),2(large_intestine) 0.58 NA 6.4643976 1006 12 52710715 52710715 G A exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon5:c.C843T:p.A281A exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon5:c.C843T:p.A281A Score=426;Name=lod=72 NA 12q13.13 NA Name=Pol2 NA NA rs2857669 0.36 0.36 0.383 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 0.3828 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15587 NA NA 0.410698 0.489787 ID=COSM147524;OCCURENCE=1(stomach) 0.428 NA 6.4636686 1006 12 58345606 58345606 T C exonic XRCC6BP1 NA synonymous SNV XRCC6BP1:NM_033276:exon4:c.T381C:p.L127L exonic ENSG00000166896 NA synonymous SNV ENSG00000166896:ENST00000300145:exon4:c.T381C:p.L127L Score=552;Name=lod=234 NA 12q14.1 NA NA NA NA rs17120203 0.14 0.14 0.145 0.176518 0.0527 0.0873 0.1585 0.3169 0.2188 0.05 0.1 0.15 0.31 0.1016 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.302529 1.302529 NA 0.048863 0.291064 NA 0.217 NA 6.4635036 1006 1 909238 909238 G C exonic PLEKHN1 NA nonsynonymous SNV PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P exonic ENSG00000187583 NA nonsynonymous SNV ENSG00000187583:ENST00000491024:exon2:c.G155C:p.R52P,ENSG00000187583:ENST00000379407:exon13:c.G1355C:p.R452P,ENSG00000187583:ENST00000379409:exon13:c.G1616C:p.R539P,ENSG00000187583:ENST00000379410:exon14:c.G1460C:p.R487P NA NA 1p36.33 NA NA NA NA rs3829740 0.74 0.74 0.769 0.776558 0.6183 0.8869 0.6931 0.8169 0.8303 0.61 0.89 0.67 0.81 0.6685 0.89 0.28 T 0.0 B 0.0 B 0.414 N 1.000 P -0.55 N 1.0 T -1.043 T 0.000 T 0.09 -0.295 2.592 2.45 0.456 0.311 2.650 -0.294888 NA 0.16 0.583256 0.780838 NA 0.681 NA 6.4632774 1006 16 2285357 2285357 C T exonic E4F1 NA synonymous SNV E4F1:NM_004424:exon14:c.C2139T:p.I713I exonic ENSG00000167967 NA synonymous SNV ENSG00000167967:ENST00000565090:exon12:c.C1608T:p.I536I,ENSG00000167967:ENST00000301727:exon14:c.C2139T:p.I713I Score=494;Name=lod=136 NA 16p13.3 NA Name=Pol2 NA NA rs26840 0.32 0.32 0.287 0.310304 0.4046 0.4018 0.3184 0.0726 0.4346 0.42 0.39 0.31 0.08 0.3939 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159915 NA NA 0.405645 0.109895 NA 0.167 NA 6.4625216 1006 7 121653177 121653177 A G exonic PTPRZ1 NA synonymous SNV PTPRZ1:NM_002851:exon12:c.A4077G:p.T1359T exonic ENSG00000106278 NA synonymous SNV ENSG00000106278:ENST00000393386:exon12:c.A4077G:p.T1359T NA NA 7q31.32 NA NA Name=12 NA rs61732006 0.11 0.11 0.116 0.105431 0.0557 0.2093 0.0562 0.1528 0.0204 0.05 0.2 0.07 0.13 0.0739 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265831 NA NA 0.075581 0.15842 NA 0.116 NA 6.4614856 1006 6 26027433 26027433 G A exonic HIST1H4B NA synonymous SNV HIST1H4B:NM_003544:exon1:c.C48T:p.A16A exonic ENSG00000124529 NA synonymous SNV ENSG00000124529:ENST00000377364:exon1:c.C48T:p.A16A NA NA 6p22.2 NA Name=MafK_(ab50322),Oct-2,CCNT2,FOSL1_(SC-183),Max,NFKB,HEY1,BCL3,FOXA2_(SC-6554),ZEB1_(SC-25388),ELF1_(SC-631),TBP,CHD2_(N-1250),GTF2F1_(RAP-74),RXRA,p300_(N-15),TCF12,USF-1,p300,ELK4,POU2F2,E2F4,FOXA1_(C-20),ZBTB33,ETS1,JunD,eGFP-JunB,TAF1,Pol2(b),GATA-1,SIRT6,BCLAF1_(M33-P5B11),c-Jun,Pbx3,TAF7_(SQ-8),Sin3Ak-20,YY1_(C-20),HA-E2F1,USF1_(SC-8983),Pol2-4H8,TR4,ERalpha_a,E2F6,IRF4_(M-17),ZNF263,GATA3_(SC-268),NRSF,Mxi1_(bHLH),RFX5_(N-494),Pol2,NELFe,Egr-1,STAT3,YY1,TCF4,Pol2(phosphoS2) Name=148 NA rs3752419 0.42 0.42 0.387 0.394369 0.3956 0.7123 0.4524 0.1309 0.3804 0.39 0.72 0.39 0.15 0.4047 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.61887 NA NA 0.405116 0.192238 NA 0.239 NA 6.4612506 1006 1 211590328 211590328 G T ncRNA_intronic LINC00467 NA NA NA ncRNA_intronic ENSG00000153363 NA NA NA Score=313;Name=lod=25 NA 1q32.3 NA NA Name=127 NA rs60555365 0.1 0.1 0.104 0.128195 0.2058 0.0506 0.0807 0.0477 0.271 0.2 0.03 0.1 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089222 NA NA NA NA NA 0.109 NA 6.4608666 1006 14 64554517 64554517 A G exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon58:c.A11613G:p.V3871V,SYNE2:NM_182914:exon58:c.A11613G:p.V3871V exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000394768:exon6:c.A768G:p.V256V,ENSG00000054654:ENST00000555002:exon9:c.A1515G:p.V505V,ENSG00000054654:ENST00000344113:exon58:c.A11613G:p.V3871V,ENSG00000054654:ENST00000358025:exon58:c.A11613G:p.V3871V,ENSG00000054654:ENST00000554584:exon58:c.A11712G:p.V3904V,ENSG00000054654:ENST00000357395:exon59:c.A768G:p.V256V NA NA 14q23.2 NA NA NA NA rs17101637 0.1 0.1 0.1 0.102037 0.0517 0.0556 0.1009 0.1997 0.0706 0.05 0.06 0.11 0.21 0.0833 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662995 NA NA 0.071977 0.158946 NA 0.109 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118499.1;CLNDSDB=.;CLNDSDBID=. 6.4596896 1006 19 53644443 53644443 G A exonic ZNF347 NA synonymous SNV ZNF347:NM_001172674:exon5:c.C1641T:p.C547C,ZNF347:NM_001172675:exon5:c.C1641T:p.C547C,ZNF347:NM_032584:exon5:c.C1638T:p.C546C exonic ENSG00000197937 NA synonymous SNV ENSG00000197937:ENST00000334197:exon5:c.C1638T:p.C546C,ENSG00000197937:ENST00000452676:exon5:c.C1641T:p.C547C,ENSG00000197937:ENST00000601469:exon5:c.C1641T:p.C547C Score=317;Name=lod=26 NA 19q13.42 NA NA NA NA rs1661935 0.07 0.07 0.065 0.0553115 0.0795 NA 0.049 0.1165 0.0092 0.08 NA 0.06 0.14 0.0573 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007229 NA NA 0.070814 0.095552 NA 0.101 NA 6.4590526 1006 13 39424254 39424254 T C exonic FREM2 NA synonymous SNV FREM2:NM_207361:exon9:c.T6459C:p.T2153T exonic ENSG00000150893 NA synonymous SNV ENSG00000150893:ENST00000280481:exon9:c.T6459C:p.T2153T Score=426;Name=lod=72 NA 13q13.3 NA NA NA NA rs9548507 0.06 0.06 NA 0.091853 0.0885 0.001 0.2478 0.0802 0.0941 0.05 0.0017 0.17 0.05 0.1172 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738605 NA NA 0.002558 0.000908 NA NA NA 6.4584086 1006 16 72158950 72158950 T C intronic PMFBP1 NA NA NA intronic ENSG00000118557 NA NA NA NA NA 16q22.2 Score=814;Name=V$COMP1_01 Name=Rad21,CTCF,Znf143_(16618-1-AP),SMC3_(ab9263),CTCF_(C-20),ZBTB7A_(SC-34508),CTCF_(SC-5916) Name=145 NA rs3812986 0.54 0.54 0.559 0.584864 0.5417 0.381 0.415 0.8003 0.6687 0.54 0.4 0.44 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815938 NA NA NA NA NA 0.638 NA 6.4583 1006 8 1808256 1808256 A G exonic ARHGEF10 NA synonymous SNV ARHGEF10:NM_014629:exon4:c.A387G:p.V129V exonic ENSG00000104728 NA synonymous SNV ENSG00000104728:ENST00000262112:exon4:c.A459G:p.V153V,ENSG00000104728:ENST00000349830:exon4:c.A387G:p.V129V,ENSG00000104728:ENST00000398564:exon4:c.A459G:p.V153V,ENSG00000104728:ENST00000520359:exon4:c.A387G:p.V129V,ENSG00000104728:ENST00000398560:exon5:c.A459G:p.V153V,ENSG00000104728:ENST00000518288:exon5:c.A459G:p.V153V Score=481;Name=lod=120 NA 8p23.3 NA NA NA NA rs749822 0.07 0.07 0.067 0.0571086 0.0736 0.1002 0.0706 0.0242 0.0307 0.07 0.1 0.06 0.05 0.0591 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130349 NA NA 0.076744 0.02315 NA 0.094 NA 6.4572226 1006 22 32784051 32784051 T C exonic C22orf28 NA synonymous SNV C22orf28:NM_014306:exon12:c.A1446G:p.V482V exonic ENSG00000100220 NA synonymous SNV ENSG00000100220:ENST00000216038:exon12:c.A1446G:p.V482V Score=592;Name=lod=338 NA 22q12.3 NA NA NA NA rs11635 0.17 0.17 0.136 0.163139 0.0467 0.4593 0.0893 0.0915 0.1268 0.05 0.47 0.1 0.06 0.1064 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.283445 1.283445 NA 0.056512 0.10236 NA 0.087 NA 6.4570546 1006 8 145114643 145114643 G A exonic OPLAH NA synonymous SNV OPLAH:NM_017570:exon3:c.C222T:p.I74I exonic ENSG00000178814 NA synonymous SNV ENSG00000178814:ENST00000426825:exon3:c.C222T:p.I74I NA NA 8q24.3 NA Name=USF-1,Sin3Ak-20 NA NA rs6558292 0.07 0.07 0.076 0.066893 0.0815 0.001 0.0548 0.1399 0.0297 0.08 0.0017 0.06 0.15 0.0614 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616898 NA NA 0.066745 0.12454 NA 0.08 NA 6.4570216 1006 3 64133182 64133182 G A exonic PRICKLE2 NA synonymous SNV PRICKLE2:NM_198859:exon7:c.C984T:p.N328N exonic ENSG00000163637 NA synonymous SNV ENSG00000163637:ENST00000295902:exon7:c.C984T:p.N328N,ENSG00000163637:ENST00000564377:exon8:c.C1152T:p.N384N NA NA 3p14.1 NA NA NA NA rs34460293 0.04 0.04 0.045 0.0547125 0.0676 0.004 0.0461 0.0446 0.1135 0.07 0.01 0.05 0.04 0.0656 0.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407902 NA NA 0.076744 0.053563 NA 0.022 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118061.2;CLNDSDB=.;CLNDSDBID=. 6.4567226 1006 2 141267573 141267573 G A exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon52:c.C8322T:p.C2774C exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon52:c.C8322T:p.C2774C Score=603;Name=lod=378 NA 2q22.1 NA NA NA NA rs35821928 0.04 0.04 0.031 0.0347444 0.0716 NA 0.0432 0.0257 0.0389 0.08 NA 0.06 0.02 0.0587 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.30228 1.30228 NA 0.080465 0.031775 NA 0.116 NA 6.4559016 1006 8 16907125 16907125 G A intronic MICU3 NA NA NA intronic ENSG00000155970 NA NA NA NA NA 8p22 Score=725;Name=V$PPARG_01 Name=FOXA1_(C-20),HDAC2_(SC-6296),TCF4,FOXA2_(SC-6554),CEBPB,p300 Name=14 NA rs2014286 0.4 0.4 0.434 0.405152 0.1521 0.5863 0.2305 0.7345 0.1575 0.14 0.59 0.23 0.71 0.2367 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.377471 NA NA 0.15545 0.633562 NA 0.333 NA 6.45575 1006 12 58350631 58350631 C T exonic XRCC6BP1 NA synonymous SNV XRCC6BP1:NM_033276:exon6:c.C699T:p.H233H exonic ENSG00000166896 NA synonymous SNV ENSG00000166896:ENST00000300145:exon6:c.C699T:p.H233H Score=507;Name=lod=153 NA 12q14.1 Score=737;Name=V$LUN1_01 NA NA NA rs10122 0.53 0.53 0.521 0.551717 0.3668 0.7262 0.5447 0.556 0.5613 0.36 0.76 0.51 0.53 0.4689 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624247 NA NA 0.375736 0.541964 NA 0.529 NA 6.4552306 1006 5 140057535 140057535 G A exonic HARS NA synonymous SNV HARS:NM_001258040:exon5:c.C468T:p.C156C,HARS:NM_001258042:exon5:c.C408T:p.C136C,HARS:NM_001258041:exon6:c.C528T:p.C176C,HARS:NM_002109:exon6:c.C588T:p.C196C exonic ENSG00000170445 NA synonymous SNV ENSG00000170445:ENST00000431330:exon3:c.C246T:p.C82C,ENSG00000170445:ENST00000415192:exon4:c.C366T:p.C122C,ENSG00000170445:ENST00000307633:exon5:c.C408T:p.C136C,ENSG00000170445:ENST00000438307:exon5:c.C468T:p.C156C,ENSG00000170445:ENST00000504366:exon5:c.C381T:p.C127C,ENSG00000170445:ENST00000448240:exon6:c.C102T:p.C34C,ENSG00000170445:ENST00000457527:exon6:c.C528T:p.C176C,ENSG00000170445:ENST00000504156:exon6:c.C588T:p.C196C Score=616;Name=lod=424 NA 5q31.3 NA NA NA NA rs2230361 0.04 0.04 0.039 0.0573083 0.0596 0.002 0.1138 0.0484 0.0838 0.07 NA 0.09 0.02 0.0788 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.382122 1.382122 NA 0.07314 0.056968 NA 0.051 NA 6.4551266 1006 19 55143452 55143452 T C exonic LILRB1 NA nonsynonymous SNV LILRB1:NM_001081637:exon5:c.T425C:p.I142T,LILRB1:NM_001081638:exon5:c.T425C:p.I142T,LILRB1:NM_001081639:exon5:c.T425C:p.I142T,LILRB1:NM_006669:exon6:c.T425C:p.I142T exonic ENSG00000104972 NA nonsynonymous SNV ENSG00000104972:ENST00000396315:exon4:c.T425C:p.I142T,ENSG00000104972:ENST00000396317:exon4:c.T425C:p.I142T,ENSG00000104972:ENST00000396321:exon4:c.T425C:p.I142T,ENSG00000104972:ENST00000418536:exon4:c.T425C:p.I142T,ENSG00000104972:ENST00000421584:exon4:c.T425C:p.I142T,ENSG00000104972:ENST00000427581:exon4:c.T533C:p.I178T,ENSG00000104972:ENST00000448689:exon4:c.T425C:p.I142T,ENSG00000104972:ENST00000324602:exon5:c.T425C:p.I142T,ENSG00000104972:ENST00000396327:exon5:c.T425C:p.I142T,ENSG00000104972:ENST00000396332:exon5:c.T425C:p.I142T,ENSG00000104972:ENST00000434867:exon5:c.T425C:p.I142T,ENSG00000104972:ENST00000396331:exon6:c.T425C:p.I142T NA NA 19q13.42 NA NA NA NA rs1061680 0.46 0.46 0.438 0.4373 0.2465 0.5942 0.4553 0.6059 0.2311 0.25 0.59 0.42 0.64 0.355 0.64 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.215 N 4.48 T -1.052 T 0.000 T 0.065 -2.258 0.004 -0.625 -0.405 0.437 5.378 -2.258264 NA 1 0.276744 0.559918 NA 0.522 NA 6.4550894 1006 1 19595137 19595137 C T ncRNA_exonic AKR7L NA NA NA exonic ENSG00000211454 NA nonsynonymous SNV ENSG00000211454:ENST00000420396:exon4:c.G229A:p.A77T NA NA 1p36.13 Score=802;Name=V$SRF_C NA NA NA rs2235795 0.66 0.66 0.627 0.665136 0.6918 0.8016 0.7334 0.3964 0.8119 0.68 0.81 0.72 0.41 0.6876 0.81 0.35 T 0.003 B 0.011 B 0.039 N 1.000 P . . 3.67 T -1.041 T 0.000 T 0.312 1.044 9.264 -4.47 -0.602 -0.058 7.771 1.043913 NA 0.74 0.665581 0.437585 NA 0.42 NA 6.455019 1007 5 78181577 78181577 T C exonic ARSB NA synonymous SNV ARSB:NM_000046:exon5:c.A972G:p.G324G,ARSB:NM_198709:exon6:c.A972G:p.G324G exonic ENSG00000113273 NA synonymous SNV ENSG00000113273:ENST00000264914:exon5:c.A972G:p.G324G,ENSG00000113273:ENST00000396151:exon6:c.A972G:p.G324G,ENSG00000113273:ENST00000565165:exon6:c.A972G:p.G324G NA NA 5q14.1 NA NA NA NA rs72762973 0.04 0.04 0.027 0.0265575 0.0875 NA 0.0461 0.0023 0.0102 0.08 NA 0.05 0.0041 0.0527 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370494 1.370494 NA 0.071512 0.01498 NA 0.072 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078006.1;CLNDSDB=.;CLNDSDBID=. 6.4549546 1007 5 148386525 148386525 T G exonic SH3TC2 NA synonymous SNV SH3TC2:NM_024577:exon16:c.A3594C:p.P1198P exonic ENSG00000169247 NA synonymous SNV ENSG00000169247:ENST00000502274:exon1:c.A180C:p.P60P,ENSG00000169247:ENST00000504690:exon16:c.A3594C:p.P1198P,ENSG00000169247:ENST00000512049:exon16:c.A3573C:p.P1191P,ENSG00000169247:ENST00000515425:exon16:c.A3594C:p.P1198P NA NA 5q32 Score=741;Name=V$ROAZ_01 NA NA NA rs6871030 0.43 0.43 0.437 0.383387 0.4046 0.2222 0.3055 0.4902 0.4387 0.43 0.28 0.39 0.63 0.4 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.421051 1.421051 NA 0.407209 0.562188 NA 0.442 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118337.2;CLNDSDB=.;CLNDSDBID=. 6.4548576 1007 4 5975538 5975538 G A intergenic MIR378D1,JAKMIP1 dist=50483;dist=52388 NA NA exonic ENSG00000181215 NA nonsynonymous SNV ENSG00000181215:ENST00000324058:exon4:c.C256T:p.R86W,ENSG00000181215:ENST00000531445:exon4:c.C1678T:p.R560W NA NA 4p16.2 NA NA NA NA rs16837960 0.53 0.53 0.556 0.522963 0.4493 0.6994 0.4899 0.4085 0.5951 0.45 0.71 0.52 0.45 0.4844 0.71 0.12 T 0.0 B 0.0 B 0.791 N 1.000 P 1.175 L 1.56 T -0.952 T 0.000 T 0.171 1.484 10.91 -2.09 -0.336 1.190 3.221 1.483536 1.483536 0.11 0.445 0.402179 ID=COSM1486027,COSM447988;OCCURENCE=1(breast) 0.565 NA 6.4546334 1007 20 6069723 6069723 G A exonic FERMT1 NA synonymous SNV FERMT1:NM_017671:exon10:c.C1153T:p.L385L exonic ENSG00000101311 NA synonymous SNV ENSG00000101311:ENST00000536936:exon9:c.C382T:p.L128L,ENSG00000101311:ENST00000217289:exon10:c.C1153T:p.L385L Score=582;Name=lod=310 NA 20p12.3 NA NA NA NA rs35413391 0.04 0.04 0.028 0.0317492 0.0825 NA 0.0749 0.0038 0.0194 0.08 NA 0.08 0.01 0.0531 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311522 NA NA 0.076512 0.014753 NA 0.036 NA 6.4545546 1007 12 49434074 49434074 C A exonic MLL2 NA synonymous SNV MLL2:NM_003482:exon31:c.G7479T:p.G2493G exonic ENSG00000167548 NA synonymous SNV ENSG00000167548:ENST00000301067:exon31:c.G7479T:p.G2493G Score=478;Name=lod=117 NA 12q13.12 NA NA NA NA rs10747559 0.39 0.39 0.393 0.435503 0.3966 0.4514 0.3271 0.4796 0.4765 0.37 0.4 0.34 0.45 0.4197 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591011 NA NA 0.396594 0.460184 NA 0.341 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080211.1;CLNDSDB=.;CLNDSDBID=. 6.4537726 1007 15 35045276 35045276 G A exonic GJD2 NA synonymous SNV GJD2:NM_020660:exon2:c.C369T:p.S123S exonic ENSG00000159248 NA synonymous SNV ENSG00000159248:ENST00000290374:exon2:c.C369T:p.S123S Score=821;Name=lod=2900 NA 15q14 NA NA NA NA rs35174018 0.07 0.07 0.049 0.0623003 0.0626 0.0873 0.0476 0.062 0.047 0.06 0.08 0.06 0.07 0.0754 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167272 NA NA 0.075035 0.063153 NA 0.167 NA 6.4536316 1007 3 100084432 100084432 G A exonic TOMM70A NA synonymous SNV TOMM70A:NM_014820:exon12:c.C1803T:p.Y601Y exonic ENSG00000154174 NA synonymous SNV ENSG00000154174:ENST00000284320:exon12:c.C1803T:p.Y601Y Score=655;Name=lod=611 NA 3q12.2 NA NA NA NA rs277644 0.27 0.27 0.286 0.252796 0.0398 0.5129 0.1988 0.3775 0.0736 0.04 0.5 0.22 0.41 0.1248 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732272 NA NA 0.048488 0.308443 NA 0.21 NA 6.4535786 1007 5 231111 231111 T C exonic SDHA NA synonymous SNV SDHA:NM_004168:exon7:c.T891C:p.P297P exonic ENSG00000073578 NA synonymous SNV ENSG00000073578:ENST00000510361:exon6:c.T747C:p.P249P,ENSG00000073578:ENST00000264932:exon7:c.T891C:p.P297P,ENSG00000073578:ENST00000504309:exon7:c.T891C:p.P297P Score=509;Name=lod=156 NA 5p15.33 Score=911;Name=V$PAX4_03 NA NA NA rs1126417 0.63 0.63 0.589 0.653355 0.7475 0.3363 0.6902 0.7874 0.6759 0.75 0.33 0.7 0.73 0.7078 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391199 NA NA 0.7582 0.789151 NA 0.732 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118321.2;CLNDSDB=.;CLNDSDBID=. 6.4531666 1007 7 21659645 21659645 T C exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon25:c.T4449C:p.I1483I exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000328843:exon25:c.T4464C:p.I1488I,ENSG00000105877:ENST00000409508:exon25:c.T4449C:p.I1483I Score=538;Name=lod=205 NA 7p15.3 NA NA NA NA rs56029521 0.45 0.45 0.447 0.423323 0.4066 0.6954 0.3127 0.3578 0.3272 0.42 0.67 0.33 0.35 0.3959 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594488 NA NA 0.412104 0.368232 NA 0.5 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079622.1;CLNDSDB=.;CLNDSDBID=. 6.4520626 1007 3 125643940 125643940 C G ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=358;Name=lod=38 NA 3q21.2 NA Name=ERalpha_a NA NA rs143065094 0.14 0.14 0.103 0.157748 0.2147 0.0972 0.1326 0.1619 0.1738 0.17 0.09 0.12 0.14 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062149 NA NA NA NA NA 0.014 NA 6.4519666 1007 11 89413781 89413781 C G exonic FOLH1B NA nonsynonymous SNV FOLH1B:NM_153696:exon8:c.C453G:p.N151K ncRNA_exonic ENSG00000134612 NA NA NA Score=568;Name=lod=271 NA 11q14.3 Score=758;Name=V$STAT5A_02 NA NA NA rs10830339 0.23 0.23 0.19 0.225639 0.3718 0.1319 0.2478 0.1619 0.2423 0.33 0.13 0.28 0.16 0.3041 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.157406 2.157406 0 0.37267 0.213312 NA 0.188 NA 6.45143 1007 1 115601528 115601528 C G exonic TSPAN2 NA synonymous SNV TSPAN2:NM_005725:exon5:c.G420C:p.G140G exonic ENSG00000134198 NA synonymous SNV ENSG00000134198:ENST00000369515:exon4:c.G345C:p.G115G,ENSG00000134198:ENST00000369514:exon5:c.G420C:p.G140G,ENSG00000134198:ENST00000369516:exon5:c.G420C:p.G140G,ENSG00000134198:ENST00000433172:exon5:c.G402C:p.G134G Score=265;Name=lod=16 NA 1p13.2 NA NA NA NA rs3738702 0.08 0.08 0.086 0.0946486 0.0746 0.0169 0.0865 0.1974 0.0624 0.06 0.02 0.09 0.18 0.0715 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771529 NA NA 0.072558 0.169315 NA 0.13 NA 6.4480086 1007 6 32427748 32427748 C T intergenic HLA-DRA,HLA-DRB5 dist=14922;dist=57406 NA NA ncRNA_exonic ENSG00000196301 NA NA NA Score=340;Name=lod=32 NA 6p21.32 Score=872;Name=V$ATF6_01 Name=c-Myc,Pol2,HA-E2F1 Name=6 NA rs9268831 0.51 0.51 0.529 0.515775 0.5199 0.5188 0.6268 0.5076 0.4407 0.51 0.52 0.6 0.43 0.5319 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210387 NA NA 0.500502 0.493151 NA 0.565 NA 6.447698 1007 3 167034814 167034814 T C exonic ZBBX NA synonymous SNV ZBBX:NM_001199201:exon14:c.A1173G:p.L391L,ZBBX:NM_001199202:exon14:c.A1086G:p.L362L,ZBBX:NM_024687:exon14:c.A1173G:p.L391L exonic ENSG00000169064 NA synonymous SNV ENSG00000169064:ENST00000307529:exon11:c.A1173G:p.L391L,ENSG00000169064:ENST00000392767:exon11:c.A1173G:p.L391L,ENSG00000169064:ENST00000455345:exon13:c.A1173G:p.L391L,ENSG00000169064:ENST00000392764:exon14:c.A1086G:p.L362L,ENSG00000169064:ENST00000392766:exon14:c.A1173G:p.L391L Score=289;Name=lod=20 NA 3q26.1 Score=789;Name=V$MEF2_03 NA NA NA rs13068132 0.3 0.3 0.28 0.294529 0.4105 0.1865 0.3444 0.2103 0.365 0.41 0.18 0.36 0.24 0.385 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120095 NA NA 0.423547 0.260718 ID=COSM149511,COSM149510;OCCURENCE=1(stomach) 0.406 NA 6.4476196 1007 14 68029386 68029386 G A exonic PLEKHH1 NA synonymous SNV PLEKHH1:NM_020715:exon7:c.G1038A:p.V346V exonic ENSG00000054690 NA synonymous SNV ENSG00000054690:ENST00000329153:exon7:c.G1038A:p.V346V Score=336;Name=lod=31 NA 14q24.1 NA NA NA NA rs1885043 0.08 0.08 0.095 0.091254 0.0646 NA 0.0447 0.2443 0.0389 0.06 NA 0.04 0.24 0.0758 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658344 NA NA 0.079641 0.19514 NA 0.072 NA 6.4466256 1007 15 64967654 64967654 C T exonic ZNF609 NA synonymous SNV ZNF609:NM_015042:exon4:c.C2601T:p.A867A exonic ENSG00000180357 NA synonymous SNV ENSG00000180357:ENST00000326648:exon4:c.C2601T:p.A867A NA NA 15q22.31 Score=857;Name=V$TAL1BETAE47_01,V$TAL1BETAITF2_01 NA NA NA rs16948170 0.1 0.1 0.115 0.127396 0.0696 0.001 0.0519 0.3396 0.0838 0.07 NA 0.06 0.3 0.0855 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.106417 NA NA 0.065015 0.291194 NA 0.174 NA 6.4465516 1007 2 17696573 17696573 C T exonic RAD51AP2 NA nonsynonymous SNV RAD51AP2:NM_001099218:exon1:c.G3110A:p.G1037D exonic ENSG00000214842 NA nonsynonymous SNV ENSG00000214842:ENST00000399080:exon1:c.G3110A:p.G1037D NA NA 2p24.2 NA NA NA NA rs834514 0.58 0.58 0.533 0.580671 0.6183 0.8849 0.6326 0.1339 0.7955 0.61 0.87 0.61 0.17 0.6441 0.87 0.28 T 0.087 B 0.063 B . . 1.000 P 0.205 N 1.45 T -1.071 T 0.000 T 0.078 0.781 8.123 2.29 0.246 0.320 5.672 0.781475 NA 0.38 0.624542 0.259935 NA 0.514 NA 6.4463914 1007 3 52864584 52864584 A G exonic ITIH4 NA synonymous SNV ITIH4:NM_001166449:exon1:c.T75C:p.T25T,ITIH4:NM_002218:exon1:c.T75C:p.T25T exonic ENSG00000055955 NA synonymous SNV ENSG00000055955:ENST00000266041:exon1:c.T75C:p.T25T,ENSG00000055955:ENST00000346281:exon1:c.T75C:p.T25T,ENSG00000055955:ENST00000406595:exon1:c.T75C:p.T25T,ENSG00000055955:ENST00000485816:exon1:c.T75C:p.T25T NA NA 3p21.1 NA Name=Pol2 Name=16 NA rs2071042 0.5 0.5 0.49 0.508387 0.4046 0.372 0.5576 0.7042 0.456 0.41 0.43 0.57 0.66 0.4319 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06682 NA NA 0.38407 0.653881 NA 0.493 NA 6.4460966 1008 12 4662210 4662210 T C exonic RAD51AP1 NA synonymous SNV RAD51AP1:NM_006479:exon7:c.T618C:p.S206S,RAD51AP1:NM_001130862:exon8:c.T669C:p.S223S exonic ENSG00000111247 NA synonymous SNV ENSG00000111247:ENST00000543041:exon6:c.T264C:p.S88S,ENSG00000111247:ENST00000352618:exon7:c.T618C:p.S206S,ENSG00000111247:ENST00000544927:exon7:c.T618C:p.S206S,ENSG00000111247:ENST00000228843:exon8:c.T669C:p.S223S,ENSG00000111247:ENST00000321524:exon8:c.T669C:p.S223S NA NA 12p13.32 NA NA NA NA rs17850028 0.05 0.05 0.035 0.0511182 0.0746 0.001 0.1816 0.0045 0.0491 0.08 NA 0.14 0.01 0.0733 0.14 . . . . . . . . 1.000 P . . . . -1.053 T 0.001 T . 0.602 7.243 1.21 0.377 0.278 3.119 0.601593 NA NA 0.073971 0.015887 NA 0.036 NA 6.4447956 1008 2 132276254 132276254 A G ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=574;Name=lod=288 NA 2q21.1 Score=876;Name=V$FOXJ2_02 NA NA NA rs28621583 0.32 0.32 0.195 0.335264 0.2227 0.6806 0.4265 0.1346 0.3016 0.21 0.63 0.36 0.12 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598465 NA NA NA NA NA 0.101 NA 6.4439666 1008 19 50562372 50562372 T C ncRNA_intronic FLJ26850 NA NA NA ncRNA_exonic ENSG00000269540 NA NA NA Score=376;Name=lod=45 NA 19q13.33 NA Name=SETDB1,KAP1 NA NA rs11879743 0.46 0.46 0.477 0.478834 0.2227 0.746 0.4092 0.5227 0.4571 0.22 0.76 0.39 0.54 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.034368 NA NA NA NA NA 0.449 NA 6.4439666 1008 16 69752373 69752373 C T exonic NQO1 NA synonymous SNV NQO1:NM_000903:exon2:c.G72A:p.E24E,NQO1:NM_001025433:exon2:c.G72A:p.E24E,NQO1:NM_001025434:exon2:c.G72A:p.E24E exonic ENSG00000181019 NA synonymous SNV ENSG00000181019:ENST00000320623:exon2:c.G72A:p.E24E,ENSG00000181019:ENST00000379046:exon2:c.G72A:p.E24E,ENSG00000181019:ENST00000379047:exon2:c.G72A:p.E24E,ENSG00000181019:ENST00000439109:exon2:c.G72A:p.E24E,ENSG00000181019:ENST00000561500:exon2:c.G72A:p.E24E,ENSG00000181019:ENST00000564043:exon2:c.G9A:p.E3E Score=497;Name=lod=139 NA 16q22.1 NA NA NA NA rs689453 0.05 0.05 0.042 0.0405351 0.0835 0.001 0.0504 0.0446 0.0245 0.08 0.0017 0.06 0.05 0.0594 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137513 NA NA 0.079884 0.047771 NA 0.13 NA 6.4438826 1008 22 35660875 35660875 G T exonic HMGXB4 NA nonsynonymous SNV HMGXB4:NM_001003681:exon5:c.G494T:p.G165V exonic ENSG00000100281 NA nonsynonymous SNV ENSG00000100281:ENST00000420166:exon4:c.G167T:p.G56V,ENSG00000100281:ENST00000216106:exon5:c.G494T:p.G165V,ENSG00000100281:ENST00000455359:exon5:c.G167T:p.G56V,ENSG00000100281:ENST00000444518:exon6:c.G167T:p.G56V NA NA 22q12.3 NA NA NA NA rs1053593 0.48 0.48 0.452 0.452476 0.6571 0.5248 0.5951 0.0696 0.5838 0.64 0.52 0.6 0.09 0.5779 0.66 0.13 T 0.012 B 0.022 B 0.957 N 1.000 P 0.55 N 0.95 T -0.907 T 0.000 T 0.077 0.909 8.7 1.32 -0.119 1.069 14.603 0.909399 NA 0.06 0.655465 0.165229 NA 0.442 NA 6.4428684 1008 20 31876681 31876681 A G exonic BPIFB1 NA nonsynonymous SNV BPIFB1:NM_033197:exon3:c.A250G:p.I84V exonic ENSG00000125999 NA nonsynonymous SNV ENSG00000125999:ENST00000253354:exon3:c.A250G:p.I84V,ENSG00000125999:ENST00000423645:exon3:c.A250G:p.I84V NA NA 20q11.21 NA NA NA NA rs1078761 0.34 0.34 0.356 0.330072 0.3052 0.245 0.3934 0.4939 0.1769 0.29 0.26 0.39 0.47 0.2972 0.47 0.15 T 0.016 B 0.061 B 0.001 N 1.000 P 1.735 L 3.47 T -0.935 T 0.000 T 0.114 1.034 9.223 1.84 -0.045 0.794 9.344 1.033826 NA 0.13 0.28814 0.445756 ID=COSM443660;OCCURENCE=1(breast) 0.348 NA 6.4427934 1008 6 56470551 56470551 T A ncRNA_intronic RNU6-71P NA NA NA exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000439203:exon26:c.A7264T:p.T2422S,ENSG00000151914:ENST00000446842:exon26:c.A7264T:p.T2422S,ENSG00000151914:ENST00000312431:exon36:c.A8242T:p.T2748S,ENSG00000151914:ENST00000361203:exon36:c.A8242T:p.T2748S,ENSG00000151914:ENST00000370769:exon36:c.A8242T:p.T2748S,ENSG00000151914:ENST00000370754:exon39:c.A8776T:p.T2926S NA NA 6p12.1 NA NA NA NA rs13194995 0.27 0.27 0.256 0.243411 0.3658 0.2252 0.3501 0.1218 0.2249 0.35 0.22 0.35 0.13 0.3183 0.37 0.76 T 0.403 B 0.12 B 0.646 N 1.000 P . . 1.0 T -1.100 T 0.119 T 0.27 2.197 13.3 3.77 0.821 0.485 8.715 2.197006 2.197006 0.04 0.37356 0.159091 NA 0.29 NA 6.44234 1008 6 64150689 64150689 G A intergenic LGSN,PTP4A1 dist=120807;dist=131231 NA NA ncRNA_exonic ENSG00000218048 NA NA NA Score=514;Name=lod=163 NA 6q12 NA Name=Pol2 Name=4 NA rs10755410 0.47 0.47 0.473 0.446086 0.5577 0.5327 0.415 0.2708 0.501 0.54 0.53 0.45 0.32 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501332 NA NA NA NA NA 0.5 NA 6.4423 1008 2 118583100 118583100 G A exonic DDX18 NA synonymous SNV DDX18:NM_006773:exon10:c.G1446A:p.T482T exonic ENSG00000088205 NA synonymous SNV ENSG00000088205:ENST00000415038:exon4:c.G438A:p.T146T,ENSG00000088205:ENST00000263239:exon10:c.G1446A:p.T482T NA NA 2q14.1 NA NA Name=11 NA rs1052639 0.04 0.04 0.035 0.0379393 0.0736 0.001 0.0346 0.0295 0.0532 0.07 NA 0.04 0.02 0.0644 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800765 NA NA 0.08686 0.028824 NA 0.065 NA 6.4418066 1008 12 27235279 27235279 G A exonic C12orf71 NA synonymous SNV C12orf71:NM_001080406:exon1:c.C138T:p.S46S exonic ENSG00000214700 NA synonymous SNV ENSG00000214700:ENST00000429849:exon1:c.C138T:p.S46S NA NA 12p11.23 NA Name=MafK_(ab50322) NA NA rs12228215 0.04 0.04 0.039 0.0251597 0.0676 0.0288 0.0216 0.0045 0.0082 0.07 0.04 0.02 0.01 0.0652 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047563 NA NA 0.092418 0.019659 NA 0.094 NA 6.4414486 1008 15 59499179 59499179 G A exonic LDHAL6B NA nonsynonymous SNV LDHAL6B:NM_033195:exon1:c.G40A:p.V14M exonic ENSG00000171989 NA nonsynonymous SNV ENSG00000171989:ENST00000307144:exon1:c.G40A:p.V14M NA NA 15q22.2 NA NA NA NA rs3809530 0.36 0.36 0.341 0.402756 0.2714 0.5496 0.3905 0.2814 0.5593 0.27 0.58 0.34 0.28 0.345 0.58 0.19 T 0.034 B 0.01 B . . 1.000 P 0.345 N -0.62 T -0.917 T 0.000 T 0.063 0.644 7.458 1.49 0.710 0.474 6.800 0.64408 NA 0.29 0.275991 0.290278 NA 0.304 NA 6.4409424 1008 12 125398039 125398039 G C exonic UBC NA synonymous SNV UBC:NM_021009:exon2:c.C279G:p.V93V exonic ENSG00000150991 NA synonymous SNV ENSG00000150991:ENST00000536769:exon1:c.C279G:p.V93V,ENSG00000150991:ENST00000339647:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000535131:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000535859:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000540351:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000540700:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000541645:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000546120:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000546271:exon2:c.C279G:p.V93V,ENSG00000150991:ENST00000538617:exon3:c.C279G:p.V93V Score=723;Name=lod=1153 NA 12q24.31 Score=848;Name=V$ZID_01 NA Name=2 NA rs1071862 0.47 0.47 0.43 0.464257 0.7763 0.2202 0.549 0.177 0.7229 0.77 0.21 0.59 0.24 0.6587 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561162 NA NA 0.791047 0.268498 NA 0.464 NA 6.4406196 1008 6 29910265 29910265 G T UTR5 HLA-A NM_001242758:c.-66G>T,NM_002116:c.-66G>T NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=Oct-2,HNF4G_(SC-6558),ELF1_(SC-631),NFKB,HEY1,GTF2F1_(RAP-74),TBP,USF2,HNF4A_(H-171),POU2F2,TAF1,Pol2-4H8,Sin3Ak-20,YY1_(C-20),TAF7_(SQ-8),YY1,Pol2(phosphoS2),Pol2,SP1,RFX5_(N-494) Name=144 NA rs41545520 NA NA 0.052 0.101837 0.0596 0.2629 0.0403 0.0008 0.1595 NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939766 NA NA NA NA NA 0.094 NA 6.4404 1008 15 90347792 90347792 C A exonic ANPEP NA synonymous SNV ANPEP:NM_001150:exon5:c.G954T:p.L318L exonic ENSG00000166825 NA synonymous SNV ENSG00000166825:ENST00000300060:exon5:c.G954T:p.L318L Score=366;Name=lod=41 NA 15q26.1 NA NA NA NA rs41276916 0.04 0.04 0.036 0.0333466 0.0905 0.001 0.0375 0.0038 0.045 0.09 0.0035 0.03 0.01 0.0582 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544354 NA NA 0.077692 0.015455 NA 0.087 NA 6.4402746 1008 2 220406722 220406722 T C exonic CHPF NA synonymous SNV CHPF:NM_001195731:exon2:c.A18G:p.L6L,CHPF:NM_024536:exon2:c.A504G:p.L168L exonic ENSG00000123989 NA synonymous SNV ENSG00000123989:ENST00000243776:exon2:c.A504G:p.L168L,ENSG00000123989:ENST00000373891:exon2:c.A504G:p.L168L,ENSG00000123989:ENST00000535926:exon2:c.A18G:p.L6L Score=346;Name=lod=34 NA 2q35 NA Name=ZNF263,YY1_(C-20),TAF7_(SQ-8),SMC3_(ab9263),Pol2,CTCF_(SC-5916),ATF3,GABP,CTCFL_(SC-98982),Znf143_(16618-1-AP),E2F6_(H-50),ETS1,TBP,EBF1_(C-8),TCF12,CTCF,SRF,CTCF_(C-20),ELF1_(SC-631),Rad21,NFKB,ZEB1_(SC-25388),c-Myc Name=134 NA rs3731912 0.72 0.72 0.73 0.754792 0.7376 0.7609 0.6902 0.6778 0.9162 0.74 0.76 0.7 0.66 0.7673 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.407049 1.407049 NA 0.721601 0.679545 ID=COSM442363;OCCURENCE=1(breast) 0.572 NA 6.4401656 1008 21 44283574 44283574 C T exonic WDR4 NA synonymous SNV WDR4:NM_001260474:exon4:c.G429A:p.G143G,WDR4:NM_018669:exon4:c.G429A:p.G143G,WDR4:NM_033661:exon4:c.G429A:p.G143G exonic ENSG00000160193 NA synonymous SNV ENSG00000160193:ENST00000330317:exon4:c.G429A:p.G143G,ENSG00000160193:ENST00000398208:exon4:c.G429A:p.G143G NA NA 21q22.3 NA NA Name=4 NA rs11911090 0.07 0.07 0.072 0.0770767 0.0606 0.001 0.049 0.18 0.0532 0.07 0.0017 0.04 0.17 0.0778 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008777 NA NA 0.08814 0.178847 NA 0.072 NA 6.4401266 1008 2 3483205 3483205 C T exonic TRAPPC12 NA synonymous SNV TRAPPC12:NM_016030:exon12:c.C2181T:p.F727F exonic ENSG00000171853 NA synonymous SNV ENSG00000171853:ENST00000415624:exon7:c.C678T:p.F226F,ENSG00000171853:ENST00000324266:exon12:c.C2181T:p.F727F,ENSG00000171853:ENST00000382110:exon12:c.C2181T:p.F727F Score=451;Name=lod=91 NA 2p25.3 NA NA NA NA rs6767 0.46 0.46 0.499 0.485423 0.4185 0.4653 0.353 0.6006 0.5133 0.42 0.49 0.37 0.58 0.4213 0.58 . . . . . . . . 0.000 P . . . . . . . . . 1.098 9.482 -1.12 -0.489 0.604 10.880 1.098402 NA NA 0.38686 0.559464 NA 0.594 NA 6.4400066 1008 17 4936972 4936972 G A exonic SLC52A1 NA nonsynonymous SNV SLC52A1:NM_001104577:exon3:c.C812T:p.A271V,SLC52A1:NM_017986:exon3:c.C812T:p.A271V exonic ENSG00000132517 NA nonsynonymous SNV ENSG00000132517:ENST00000254853:exon3:c.C812T:p.A271V,ENSG00000132517:ENST00000424747:exon3:c.C812T:p.A271V,ENSG00000132517:ENST00000512825:exon3:c.C812T:p.A271V Score=251;Name=lod=14 NA 17p13.2 NA NA NA NA rs346821 0.55 0.55 0.534 0.529153 0.6402 0.2331 0.6369 0.73 0.3722 0.64 0.23 0.66 0.73 0.5893 0.74 0.35 T 0.046 B 0.059 B 0.816 N 0.166 P 0.55 N -0.73 T -0.927 T 0.000 T 0.045 1.39 10.58 0.784 0.699 . 7.391 1.389727 1.389727 0.29 0.663953 0.735588 NA 0.71 NA 6.4398804 1008 15 90347783 90347783 C T exonic ANPEP NA synonymous SNV ANPEP:NM_001150:exon5:c.G963A:p.T321T exonic ENSG00000166825 NA synonymous SNV ENSG00000166825:ENST00000300060:exon5:c.G963A:p.T321T Score=389;Name=lod=51 NA 15q26.1 NA NA NA NA rs17240240 0.05 0.05 0.05 0.0399361 0.0895 0.001 0.0389 0.028 0.046 0.09 0.0035 0.03 0.04 0.0598 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308253 NA NA 0.077576 0.034773 NA 0.101 NA 6.4397906 1008 7 11521428 11521428 A G exonic THSD7A NA synonymous SNV THSD7A:NM_015204:exon7:c.T2004C:p.Y668Y exonic ENSG00000005108 NA synonymous SNV ENSG00000005108:ENST00000423059:exon7:c.T2004C:p.Y668Y Score=468;Name=lod=106 NA 7p21.3 NA NA NA NA rs61996277 0.04 0.04 0.036 0.0335463 0.0636 0.002 0.0865 0.0068 0.0337 0.07 0.0017 0.09 0.02 0.0765 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.091325 NA NA 0.087238 0.018165 NA 0.051 NA 6.4393286 1008 6 7862631 7862631 G C exonic BMP6 NA synonymous SNV BMP6:NM_001718:exon4:c.G1104C:p.V368V exonic ENSG00000153162 NA synonymous SNV ENSG00000153162:ENST00000283147:exon4:c.G1104C:p.V368V Score=597;Name=lod=357 NA 6p24.3 Score=981;Name=V$USF_C NA NA NA rs17557 0.59 0.59 0.601 0.597644 0.3917 0.7411 0.6095 0.7481 0.4499 0.4 0.74 0.58 0.74 0.4637 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.339221 1.339221 NA 0.374884 0.692238 NA 0.688 NA 6.4363826 1009 11 59611362 59611362 G A exonic GIF NA synonymous SNV GIF:NM_005142:exon2:c.C246T:p.S82S exonic ENSG00000134812 NA synonymous SNV ENSG00000134812:ENST00000257248:exon2:c.C246T:p.S82S,ENSG00000134812:ENST00000541311:exon2:c.C171T:p.S57S Score=329;Name=lod=29 NA 11q12.1 NA NA NA NA rs35792306 0.07 0.07 0.063 0.0537141 0.0785 0.0952 0.0259 0.003 0.0736 0.09 0.12 0.03 0.01 0.0747 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684875 NA NA 0.079162 0.019082 NA 0.029 NA 6.4343046 1009 1 92177938 92177938 A G exonic TGFBR3 NA synonymous SNV TGFBR3:NM_001195683:exon13:c.T2025C:p.F675F,TGFBR3:NM_003243:exon13:c.T2028C:p.F676F,TGFBR3:NM_001195684:exon14:c.T2025C:p.F675F exonic ENSG00000069702 NA synonymous SNV ENSG00000069702:ENST00000525962:exon12:c.T2028C:p.F676F,ENSG00000069702:ENST00000212355:exon13:c.T2028C:p.F676F,ENSG00000069702:ENST00000465892:exon13:c.T2025C:p.F675F,ENSG00000069702:ENST00000370399:exon14:c.T2025C:p.F675F Score=366;Name=lod=41 NA 1p22.1 Score=834;Name=V$CHOP_01 NA NA NA rs1805113 0.31 0.31 0.3 0.279752 0.4304 0.0863 0.2882 0.3101 0.2771 0.44 0.11 0.32 0.33 0.366 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.91293 NA NA 0.436047 0.343849 NA 0.333 NA 6.4342196 1009 1 111824209 111824209 G A ncRNA_exonic CHIAP2 NA NA NA ncRNA_exonic ENSG00000203878 NA NA NA Score=512;Name=lod=161 NA 1p13.2 NA NA Name=11 NA rs6537690 0.2 0.2 0.211 0.201278 0.2326 0.13 0.1671 0.2428 0.2106 0.24 0.14 0.17 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.800386 2.800386 NA NA NA NA 0.188 NA 6.4340666 1009 9 4564432 4564432 G A exonic SLC1A1 NA synonymous SNV SLC1A1:NM_004170:exon4:c.G414A:p.T138T exonic ENSG00000106688 NA synonymous SNV ENSG00000106688:ENST00000262352:exon4:c.G414A:p.T138T Score=567;Name=lod=268 NA 9p24.2 NA Name=CTCF NA NA rs2228622 0.31 0.31 0.305 0.328275 0.4095 0.2361 0.4582 0.1921 0.4315 0.39 0.23 0.41 0.21 0.3971 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212239 NA NA 0.426163 0.220154 NA 0.348 NA 6.4339036 1009 1 40349131 40349131 G A exonic TRIT1 NA synonymous SNV TRIT1:NM_017646:exon1:c.C33T:p.P11P exonic ENSG00000043514 NA synonymous SNV ENSG00000043514:ENST00000316891:exon1:c.C33T:p.P11P,ENSG00000043514:ENST00000372818:exon1:c.C33T:p.P11P,ENSG00000043514:ENST00000441669:exon1:c.C33T:p.P11P,ENSG00000043514:ENST00000462797:exon1:c.C33T:p.P11P,ENSG00000043514:ENST00000489945:exon1:c.C33T:p.P11P,ENSG00000043514:ENST00000495175:exon1:c.C33T:p.P11P,ENSG00000043514:ENST00000544981:exon1:c.C33T:p.P11P NA NA 1p34.2 NA Name=c-Myc,CCNT2,Max,NFKB,HEY1,ELF1_(SC-631),PAX5-C20,Nrf1,TBP,SREBP1,TAF1,Pol2(b),HMGN3,Mxi1_(bHLH),Pol2,YY1,Pol2(phosphoS2),Ini1,YY1_(C-20),Pol2-4H8,E2F6,ZNF263 Name=148 NA rs3845570 0.5 0.5 0.466 0.508586 0.3946 0.5933 0.4107 0.6157 0.4632 0.4 0.58 0.44 0.62 0.4452 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195462 NA NA 0.392998 0.566954 ID=COSM426251;OCCURENCE=2(breast) 0.486 NA 6.4338686 1009 7 142510446 142510446 G A intergenic PRSS3P2,EPHB6 dist=28047;dist=42346 NA NA exonic ENSG00000237254 NA stopgain ENSG00000237254:ENST00000417977:exon2:c.C160T:p.R54X Score=391;Name=lod=52 NA 7q34 NA Name=Pol2,GATA-1 NA NA rs17267 0.17 0.17 0.149 0.14357 0.2624 0.1121 0.2176 0.0469 0.1319 0.27 0.11 0.23 0.04 0.2352 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.736147 3.736147 1 0.23599 0.069366 NA 0.123 NA 6.4330767 1009 3 52551010 52551010 C T exonic STAB1 NA synonymous SNV STAB1:NM_015136:exon42:c.C4374T:p.P1458P exonic ENSG00000010327 NA synonymous SNV ENSG00000010327:ENST00000321725:exon42:c.C4374T:p.P1458P Score=378;Name=lod=46 NA 3p21.1 NA NA NA NA rs79979130 0.05 0.05 0.037 0.04373 0.0905 0.0228 0.0893 0.0129 0.0266 0.09 0.02 0.1 0.01 0.064 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127117 NA NA 0.079921 0.019065 ID=COSM1328126;OCCURENCE=1(ovary) 0.101 NA 6.4322456 1009 6 166736362 166736362 C T exonic SFT2D1 NA synonymous SNV SFT2D1:NM_145169:exon7:c.G423A:p.S141S exonic ENSG00000198818 NA synonymous SNV ENSG00000198818:ENST00000361731:exon7:c.G423A:p.S141S Score=403;Name=lod=58 NA 6q27 Score=867;Name=V$GRE_C NA NA NA rs7088 0.45 0.45 0.424 0.472244 0.3996 0.6161 0.4784 0.3283 0.589 0.4 0.6 0.47 0.34 0.4402 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759653 NA NA 0.397093 0.321607 NA 0.326 NA 6.4297736 1009 7 34851393 34851393 C G exonic NPSR1 NA synonymous SNV NPSR1:NM_207172:exon4:c.C396G:p.L132L,NPSR1:NM_207173:exon4:c.C396G:p.L132L exonic ENSG00000187258 NA nonsynonymous SNV ENSG00000187258:ENST00000381544:exon3:c.C292G:p.L98V Score=600;Name=lod=365 NA 7p14.3 NA NA NA NA rs9655357 0.18 0.18 0.165 0.148562 0.2068 0.3165 0.1556 0.0113 0.0961 0.2 0.32 0.15 0.01 0.1789 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.2259 3.2259 0 0.184767 0.04562 NA 0.145 NA 6.429533 1009 2 128522383 128522383 T C exonic WDR33 NA synonymous SNV WDR33:NM_001006622:exon6:c.A645G:p.P215P exonic ENSG00000136709 NA synonymous SNV ENSG00000136709:ENST00000409658:exon6:c.A645G:p.P215P Score=856;Name=lod=4023 NA 2q14.3 NA NA NA NA rs11557685 0.05 0.05 0.055 0.0569089 0.0716 0.0427 0.049 0.0575 0.0613 0.07 0.02 0.04 0.06 0.0753 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200515 NA NA 0.090349 0.067408 NA 0.065 NA 6.4294176 1009 1 227172290 227172290 C T exonic ADCK3 NA synonymous SNV ADCK3:NM_020247:exon12:c.C1440T:p.F480F exonic ENSG00000163050 NA synonymous SNV ENSG00000163050:ENST00000433743:exon8:c.C462T:p.F154F,ENSG00000163050:ENST00000458507:exon9:c.C603T:p.F201F,ENSG00000163050:ENST00000366775:exon12:c.C975T:p.F325F,ENSG00000163050:ENST00000366776:exon12:c.C1215T:p.F405F,ENSG00000163050:ENST00000366777:exon12:c.C1440T:p.F480F,ENSG00000163050:ENST00000366778:exon12:c.C1284T:p.F428F,ENSG00000163050:ENST00000366779:exon17:c.C1440T:p.F480F Score=578;Name=lod=298 NA 1q42.13 NA NA NA NA rs12593 0.28 0.28 0.289 0.238618 0.4274 0.1716 0.2695 0.1649 0.1912 0.43 0.17 0.3 0.18 0.3525 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300398 1.300398 NA 0.458023 0.209033 ID=COSM146800,COSM146801;OCCURENCE=1(stomach),1(large_intestine) 0.348 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116235.2;CLNDSDB=.;CLNDSDBID=. 6.4287436 1009 14 56096731 56096731 A G exonic KTN1 NA synonymous SNV KTN1:NM_001079521:exon7:c.A1137G:p.R379R,KTN1:NM_004986:exon7:c.A1137G:p.R379R,KTN1:NM_001079522:exon8:c.A1137G:p.R379R,KTN1:NM_001271014:exon8:c.A1137G:p.R379R exonic ENSG00000126777 NA synonymous SNV ENSG00000126777:ENST00000416613:exon6:c.A1137G:p.R379R,ENSG00000126777:ENST00000395309:exon7:c.A1137G:p.R379R,ENSG00000126777:ENST00000395311:exon7:c.A1137G:p.R379R,ENSG00000126777:ENST00000395314:exon7:c.A1137G:p.R379R,ENSG00000126777:ENST00000413890:exon7:c.A1137G:p.R379R,ENSG00000126777:ENST00000438792:exon7:c.A1137G:p.R379R,ENSG00000126777:ENST00000395308:exon8:c.A1137G:p.R379R,ENSG00000126777:ENST00000459737:exon8:c.A1137G:p.R379R Score=647;Name=lod=566 NA 14q22.3 NA NA NA NA rs2274075 0.05 0.05 0.044 0.0609026 0.0626 0.0159 0.072 0.0484 0.1145 0.07 0.01 0.07 0.05 0.0773 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.16221 NA NA 0.098256 0.060372 NA 0.022 NA 6.4285106 1009 6 36275458 36275458 T C exonic PNPLA1 NA nonsynonymous SNV PNPLA1:NM_001145716:exon8:c.T1306C:p.S436P,PNPLA1:NM_001145717:exon8:c.T1564C:p.S522P,PNPLA1:NM_173676:exon8:c.T1279C:p.S427P exonic ENSG00000180316 NA nonsynonymous SNV ENSG00000180316:ENST00000312917:exon8:c.T1306C:p.S436P,ENSG00000180316:ENST00000388715:exon8:c.T1279C:p.S427P,ENSG00000180316:ENST00000394571:exon8:c.T1564C:p.S522P,ENSG00000180316:ENST00000457797:exon8:c.T1567C:p.S523P NA NA 6p21.31 NA NA NA NA rs4713956 0.64 0.64 0.639 0.648363 0.6352 0.6091 0.6643 0.7375 0.5706 0.62 0.56 0.67 0.73 0.6402 0.73 1 T 0.0 B 0.0 B 0.829 N 1.000 P -0.975 N 1.97 T -0.949 T 0.005 T 0.057 -1.018 0.235 2.53 -0.019 0.419 2.766 -1.01769 NA NA 0.629651 0.721743 NA 0.645 NA 6.4282824 1009 9 36169494 36169494 G A UTR5 CCIN NM_005893:c.-6G>A NA NA UTR5 ENSG00000185972 ENST00000335119:c.-6G>A NA NA Score=445;Name=lod=86 NA 9p13.3 Score=843;Name=V$FAC1_01 Name=eGFP-JunD NA NA rs3739610 0.34 0.34 0.363 0.383187 0.2942 0.4484 0.1945 0.4334 0.4734 0.3 0.4 0.21 0.45 0.3118 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179995 NA NA 0.299186 0.408761 ID=COSN168540;OCCURENCE=1(large_intestine) 0.355 NA 6.4281474 1009 14 69704553 69704553 G T exonic EXD2 NA nonsynonymous SNV EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H exonic ENSG00000081177 NA nonsynonymous SNV ENSG00000081177:ENST00000409675:exon7:c.G1179T:p.Q393H,ENSG00000081177:ENST00000449989:exon7:c.G1179T:p.Q393H,ENSG00000081177:ENST00000312994:exon8:c.G1554T:p.Q518H,ENSG00000081177:ENST00000409018:exon8:c.G1554T:p.Q518H,ENSG00000081177:ENST00000409242:exon8:c.G1179T:p.Q393H,ENSG00000081177:ENST00000409949:exon9:c.G1179T:p.Q393H,ENSG00000081177:ENST00000409014:exon10:c.G1179T:p.Q393H NA NA 14q24.1 NA NA NA NA rs8007859 0.77 0.77 0.761 0.804313 0.5944 0.9345 0.7839 0.8464 0.8436 0.6 0.93 0.75 0.87 0.7023 0.93 0.25 T 0.0 B 0.001 B 0.875 N 1.000 P 0.145 N 0.35 T -0.985 T 0.000 T 0.047 0.698 7.725 -2.07 -0.528 0.027 10.938 0.697921 NA 0.29 0.609302 0.834317 NA 0.746 NA 6.4273314 1009 1 110201809 110201809 G T intronic GSTM4 NA NA NA exonic ENSG00000168765 NA nonsynonymous SNV ENSG00000168765:ENST00000369833:exon5:c.G521T:p.S174I NA NA 1p13.3 NA Name=c-Jun,p300_(N-15) Name=21 NA rs562996 0.86 0.86 0.903 0.874002 0.8598 0.9692 0.8963 0.8177 0.8507 0.85 0.92 0.87 0.78 0.8799 0.92 . . . . . . . . 1.000 P . . 3.6 T -0.882 T 0.006 T 0.027 0.67 7.588 1.25 0.226 -0.139 8.120 0.670133 NA 0.26 NA NA NA 0.768 NA 6.4269667 1009 17 66539847 66539847 C T exonic FAM20A NA synonymous SNV FAM20A:NM_017565:exon5:c.G735A:p.E245E,FAM20A:NM_001243746:exon6:c.G321A:p.E107E exonic ENSG00000108950,ENSG00000269657 NA nonsynonymous SNV ENSG00000269657:ENST00000600820:exon1:c.C106T:p.L36F Score=387;Name=lod=50 NA 17q24.2 NA NA NA NA rs2286562 0.24 0.24 0.214 0.234026 0.1819 0.4534 0.3372 0.0764 0.2014 0.18 0.42 0.31 0.08 0.2079 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570518 NA 0.03 0.183372 0.097594 ID=COSM148324;OCCURENCE=1(stomach) 0.21 NA 6.426828 1009 1 85741921 85741921 G C intronic BCL10 NA NA NA intronic ENSG00000142867 NA NA NA Score=259;Name=lod=15 NA 1p22.3 Score=823;Name=V$IRF2_01 Name=TBP,ELF1_(SC-631),Pol2,PU.1,Ini1,Egr-1,ZNF263,TAF1 Name=37 NA rs2735594 0.78 0.78 0.774 0.770567 0.7913 0.7173 0.6873 0.8442 0.7638 0.8 0.73 0.74 0.83 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.035293 2.035293 NA 0.781898 0.842486 NA 0.833 NA 6.426802 1009 1 180897569 180897569 C T exonic KIAA1614 NA synonymous SNV KIAA1614:NM_020950:exon4:c.C1065T:p.T355T exonic ENSG00000135835 NA synonymous SNV ENSG00000135835:ENST00000367588:exon4:c.C1065T:p.T355T Score=407;Name=lod=60 NA 1q25.3 NA NA Name=19 NA rs3747958 0.41 0.41 0.401 0.389976 0.4135 0.5516 0.4063 0.2731 0.3456 0.41 0.52 0.38 0.31 0.4171 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313839 1.313839 NA 0.409373 0.280079 NA 0.304 NA 6.4266936 1009 2 85824084 85824084 G C intronic RNF181 NA NA NA exonic ENSG00000168894 NA unknown UNKNOWN NA NA 2p11.2 NA NA NA NA rs2232748 0.47 0.47 0.494 0.477636 0.3618 0.38 0.3228 0.8404 0.317 0.34 0.38 0.38 0.84 0.3671 0.84 . . . . . . . . 1.000 P . . . . -1.039 T 0.000 T . -0.723 0.9 3.49 0.217 -1.004 5.1 -0.722528 NA NA 0.344651 0.744666 NA 0.493 NA 6.426449 1009 7 138486096 138486096 G C exonic TMEM213 NA nonsynonymous SNV TMEM213:NM_001085429:exon2:c.G107C:p.S36T exonic ENSG00000214128 NA nonsynonymous SNV ENSG00000214128:ENST00000397602:exon2:c.G104C:p.S35T,ENSG00000214128:ENST00000413208:exon2:c.G107C:p.S36T,ENSG00000214128:ENST00000422794:exon2:c.G257C:p.S86T,ENSG00000214128:ENST00000442682:exon2:c.G107C:p.S36T NA NA 7q34 NA NA NA NA rs61729750 0.68 0.68 0.705 0.671126 0.6282 0.6925 0.6643 0.7421 0.6022 0.63 0.69 0.65 0.75 0.6506 0.75 1 T 0.0 B 0.0 B 0.472 N 1.000 P -0.895 N . . -0.954 T 0.000 T 0.042 -2.687 0 2.16 0.075 0.358 4.426 -2.686823 NA 0.42 0.628668 0.72321 NA 0.79 NA 6.4258654 1009 4 3231661 3231661 G A exonic HTT NA synonymous SNV HTT:NM_002111:exon60:c.G8157A:p.L2719L exonic ENSG00000197386 NA synonymous SNV ENSG00000197386:ENST00000355072:exon60:c.G8157A:p.L2719L Score=508;Name=lod=155 NA 4p16.3 NA NA NA NA rs2276881 0.14 0.14 0.12 0.144569 0.0636 0.3621 0.1859 0.0045 0.1636 0.06 0.34 0.15 0.01 0.1074 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178914 NA NA 0.070495 0.013272 NA 0.101 NA 6.4251716 1010 1 161094190 161094190 A G exonic DEDD NA synonymous SNV DEDD:NM_001039711:exon2:c.T63C:p.H21H,DEDD:NM_001039712:exon3:c.T63C:p.H21H,DEDD:NM_032998:exon3:c.T63C:p.H21H exonic ENSG00000158796 NA synonymous SNV ENSG00000158796:ENST00000368005:exon2:c.T63C:p.H21H,ENSG00000158796:ENST00000545495:exon2:c.T63C:p.H21H,ENSG00000158796:ENST00000368006:exon3:c.T63C:p.H21H,ENSG00000158796:ENST00000392188:exon3:c.T63C:p.H21H,ENSG00000158796:ENST00000458050:exon3:c.T63C:p.H21H Score=595;Name=lod=348 NA 1q23.3 NA NA NA NA rs1135783 0.07 0.07 0.08 0.0928514 0.0746 0.0675 0.0663 0.1067 0.138 0.07 0.06 0.06 0.1 0.0883 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.698276 NA 0.01 0.079186 0.115751 NA 0.051 NA 6.4245806 1010 11 28057957 28057957 T C exonic KIF18A NA nonsynonymous SNV KIF18A:NM_031217:exon14:c.A2203G:p.I735V exonic ENSG00000121621 NA nonsynonymous SNV ENSG00000121621:ENST00000263181:exon14:c.A2203G:p.I735V NA NA 11p14.1 NA NA NA NA rs10458896 0.4 0.4 0.417 0.397364 0.2962 0.4762 0.2046 0.6384 0.2311 0.28 0.46 0.24 0.62 0.3212 0.62 0.78 T 0.0 B 0.0 B 0.323 N 1.000 P 1.245 L -0.49 T -0.955 T 0.000 T 0.022 -1.917 0.008 0.187 -0.144 -0.358 8.379 -1.916505 NA 1 0.291647 0.597411 NA 0.435 NA 6.4242864 1010 13 114524056 114524056 C T ncRNA_intronic GAS6-AS1 NA NA NA ncRNA_intronic ENSG00000233695 NA NA NA NA NA 13q34 NA Name=GR,E2F6_(H-50),USF1_(SC-8983) Name=43 NA rs7319527 0.23 0.23 0.251 0.241214 0.2425 0.0069 0.2003 0.5136 0.1421 0.23 0.01 0.23 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790194 NA NA NA NA NA 0.355 NA 6.4241666 1010 17 5264916 5264916 C T exonic RABEP1 NA synonymous SNV RABEP1:NM_001083585:exon9:c.C1509T:p.S503S,RABEP1:NM_004703:exon9:c.C1509T:p.S503S exonic ENSG00000029725 NA synonymous SNV ENSG00000029725:ENST00000574568:exon3:c.C570T:p.S190S,ENSG00000029725:ENST00000537505:exon8:c.C1380T:p.S460S,ENSG00000029725:ENST00000262477:exon9:c.C1509T:p.S503S,ENSG00000029725:ENST00000341923:exon9:c.C1509T:p.S503S,ENSG00000029725:ENST00000408982:exon9:c.C1509T:p.S503S,ENSG00000029725:ENST00000546142:exon9:c.C1509T:p.S503S Score=519;Name=lod=171 NA 17p13.2 NA NA NA NA rs34594998 0.08 0.08 0.093 0.095647 0.0805 NA 0.0432 0.2458 0.044 0.09 NA 0.04 0.2 0.0816 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.618739 1.618739 NA 0.081133 0.208092 NA 0.159 NA 6.4234336 1010 6 31170514 31170514 A G ncRNA_exonic HCG27 NA NA NA exonic ENSG00000206344 NA unknown UNKNOWN NA NA 6p21.33 NA Name=SRF Name=30 NA rs9263870 0.12 0.12 0.119 0.1252 0.1531 0.0942 0.1772 0.1112 0.1104 0.14 0.09 0.19 0.09 0.1379 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261743 NA NA 0.119459 0.090731 NA 0.094 NA 6.4228743 1010 15 78219278 78219278 C T upstream LOC645752 NA NA NA upstream ENSG00000260776 NA NA NA NA NA 15q24.3 Score=951;Name=V$NFY_Q6 Name=Pol2,TCF4,TBP Name=33 NA rs9920783 0.14 0.14 0.144 0.105631 0.2445 0.0526 0.1023 0.0575 0.0849 0.26 0.06 0.11 0.08 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143646 NA NA NA NA NA 0.065 NA 6.4221666 1010 19 53352359 53352359 A G exonic ZNF468 NA synonymous SNV ZNF468:NM_001008801:exon3:c.T123C:p.Y41Y,ZNF468:NM_001277120:exon3:c.T123C:p.Y41Y exonic ENSG00000204604 NA synonymous SNV ENSG00000204604:ENST00000601847:exon1:c.T15C:p.Y5Y,ENSG00000204604:ENST00000243639:exon3:c.T123C:p.Y41Y,ENSG00000204604:ENST00000595646:exon3:c.T123C:p.Y41Y,ENSG00000204604:ENST00000597924:exon3:c.T123C:p.Y41Y Score=369;Name=lod=42 NA 19q13.41 NA NA NA NA rs12462241 0.07 0.07 0.07 0.0902556 0.0805 0.0486 0.1023 0.1074 0.1115 0.08 0.05 0.08 0.08 0.0857 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176934 NA NA 0.078372 0.098956 NA 0.138 NA 6.4220946 1010 5 141309265 141309265 C T exonic KIAA0141 NA synonymous SNV KIAA0141:NM_001142603:exon5:c.C531T:p.N177N,KIAA0141:NM_014773:exon5:c.C531T:p.N177N exonic ENSG00000081791 NA synonymous SNV ENSG00000081791:ENST00000194118:exon5:c.C531T:p.N177N,ENSG00000081791:ENST00000432126:exon5:c.C531T:p.N177N,ENSG00000081791:ENST00000508751:exon5:c.C531T:p.N177N Score=251;Name=lod=14 NA 5q31.3 NA NA NA NA rs10078802 0.05 0.05 0.048 0.0607029 0.0855 0.0099 0.0447 0.0333 0.136 0.08 0.01 0.06 0.04 0.0757 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.020141 2.020141 NA 0.083488 0.044031 NA 0.051 NA 6.4219786 1010 19 7712277 7712277 A G exonic STXBP2 NA nonsynonymous SNV STXBP2:NM_001127396:exon18:c.A1567G:p.I523V,STXBP2:NM_001272034:exon18:c.A1609G:p.I537V,STXBP2:NM_006949:exon18:c.A1576G:p.I526V exonic ENSG00000076944 NA nonsynonymous SNV ENSG00000076944:ENST00000602355:exon3:c.A181G:p.I61V,ENSG00000076944:ENST00000221283:exon18:c.A1576G:p.I526V,ENSG00000076944:ENST00000414284:exon18:c.A1567G:p.I523V,ENSG00000076944:ENST00000441779:exon18:c.A1609G:p.I537V NA NA 19p13.2 Score=766;Name=V$PAX5_02 NA NA NA rs6791 0.74 0.74 0.733 0.70607 0.664 0.8185 0.6859 0.8071 0.5112 0.67 0.84 0.65 0.79 0.6352 0.84 0.68 T 0.0 B 0.0 B 0.412 N 1.000 P -1.445 N -0.99 T -0.992 T 0.000 T 0.025 -1.105 0.138 -0.767 -0.523 -0.176 6.846 -1.105234 NA 0.5 0.61229 0.774693 ID=COSM440643;OCCURENCE=1(breast) 0.783 NA 6.4218434 1010 15 74032783 74032783 A G exonic C15orf59 NA synonymous SNV C15orf59:NM_001039614:exon2:c.T357C:p.S119S exonic ENSG00000205363 NA synonymous SNV ENSG00000205363:ENST00000379822:exon2:c.T357C:p.S119S,ENSG00000205363:ENST00000559817:exon3:c.T273C:p.S91S,ENSG00000205363:ENST00000569673:exon3:c.T357C:p.S119S Score=443;Name=lod=84 NA 15q24.1 Score=747;Name=V$STAT3_01 NA NA NA rs28594180 0.42 0.42 0.407 0.448083 0.4056 0.5853 0.4669 0.2761 0.5695 0.39 0.57 0.44 0.3 0.4359 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.299109 1.299109 NA 0.404213 0.306187 ID=COSM434259;OCCURENCE=1(breast) 0.406 NA 6.4209536 1010 8 72975801 72975801 T G exonic TRPA1 NA nonsynonymous SNV TRPA1:NM_007332:exon5:c.A558C:p.K186N exonic ENSG00000104321 NA nonsynonymous SNV ENSG00000104321:ENST00000523582:exon2:c.A114C:p.K38N,ENSG00000104321:ENST00000262209:exon5:c.A558C:p.K186N NA NA 8q13.3 NA NA NA NA rs7819749 0.82 0.82 0.807 0.827676 0.6074 0.9752 0.7695 0.9705 0.7505 0.62 0.99 0.75 0.96 0.7037 0.99 0.42 T 0.0 B 0.001 B 0.126 N 1.000 P 0.43 N -0.14 T -0.975 T 0.000 T 0.021 2.195 13.3 -11.2 -2.413 -0.526 5.412 2.195311 2.195311 0.63 0.60186 0.917385 NA 0.783 NA 6.4203734 1010 6 30228230 30228230 A C ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA Score=304;Name=lod=23 NA 6p22.1 NA NA Name=8 NA rs2516710 0.34 0.34 0.294 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.741997 1.741997 NA NA NA NA 0.384 NA 6.4201666 1010 19 41263403 41263403 A G exonic SNRPA NA synonymous SNV SNRPA:NM_004596:exon2:c.A240G:p.K80K exonic ENSG00000077312 NA synonymous SNV ENSG00000077312:ENST00000243563:exon2:c.A240G:p.K80K,ENSG00000077312:ENST00000600456:exon2:c.A240G:p.K80K,ENSG00000077312:ENST00000601545:exon2:c.A90G:p.K30K,ENSG00000077312:ENST00000597353:exon3:c.A240G:p.K80K,ENSG00000077312:ENST00000599362:exon3:c.A240G:p.K80K,ENSG00000077312:ENST00000601253:exon3:c.A240G:p.K80K Score=525;Name=lod=181 NA 19q13.2 NA NA NA NA rs2230694 0.21 0.21 0.211 0.185703 0.0726 0.2073 0.0778 0.4077 0.0562 0.07 0.23 0.1 0.45 0.1058 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474892 NA NA 0.068256 0.327508 NA 0.159 NA 6.4200106 1010 7 2611878 2611878 T C exonic IQCE NA synonymous SNV IQCE:NM_001100390:exon4:c.T264C:p.T88T,IQCE:NM_152558:exon5:c.T312C:p.T104T exonic ENSG00000106012 NA synonymous SNV ENSG00000106012:ENST00000325979:exon3:c.T117C:p.T39T,ENSG00000106012:ENST00000325997:exon3:c.T117C:p.T39T,ENSG00000106012:ENST00000423395:exon3:c.T117C:p.T39T,ENSG00000106012:ENST00000404984:exon4:c.T159C:p.T53T,ENSG00000106012:ENST00000422276:exon4:c.T117C:p.T39T,ENSG00000106012:ENST00000438376:exon4:c.T264C:p.T88T,ENSG00000106012:ENST00000402050:exon5:c.T312C:p.T104T,ENSG00000106012:ENST00000415271:exon5:c.T312C:p.T104T Score=309;Name=lod=24 NA 7p22.3 NA Name=ELF1_(SC-631) Name=74 NA rs2917751 0.66 0.66 0.636 0.661342 0.7604 0.5159 0.6931 0.6301 0.729 0.77 0.52 0.68 0.66 0.7299 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821277 NA NA 0.75664 0.653277 NA 0.681 NA 6.4197266 1010 3 12829036 12829036 C T intergenic TMEM40,CAND2 dist=28228;dist=9135 NA NA ncRNA_exonic ENSG00000213943 NA NA NA Score=537;Name=lod=203 NA 3p25.2 NA Name=Rad21,CTCF_(C-20),CTCF,NRSF,CTCF_(SC-5916),SMC3_(ab9263) Name=38 NA rs9881832 0.41 0.41 0.411 0.365815 0.5815 0.3323 0.402 0.2943 0.2495 0.57 0.3 0.39 0.31 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747075 NA NA NA NA NA 0.21 NA 6.4185 1010 22 38122448 38122448 C T exonic TRIOBP NA synonymous SNV TRIOBP:NM_001039141:exon7:c.C3885T:p.S1295S exonic ENSG00000100106 NA synonymous SNV ENSG00000100106:ENST00000406386:exon7:c.C3885T:p.S1295S Score=448;Name=lod=88 NA 22q13.1 Score=853;Name=V$PAX5_01 NA NA NA rs739137 0.38 0.38 0.342 0.336661 0.3877 0.5863 0.2867 0.1543 0.3088 0.39 0.58 0.31 0.17 0.4421 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.381256 1.381256 NA 0.419597 0.177437 NA 0.283 NA 6.4172696 1010 1 179520422 179520422 T C exonic NPHS2 NA synonymous SNV NPHS2:NM_014625:exon8:c.A1038G:p.L346L exonic ENSG00000116218 NA synonymous SNV ENSG00000116218:ENST00000367616:exon7:c.A834G:p.L278L,ENSG00000116218:ENST00000367615:exon8:c.A1038G:p.L346L NA NA 1q25.2 NA Name=PAX5-C20 NA NA rs3818587 0.08 0.08 0.071 0.0710863 0.0865 0.0942 0.0519 0.0946 0.0133 0.09 0.08 0.05 0.08 0.0737 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.438488 NA NA 0.089535 0.08965 NA 0.08 NA 6.4169316 1010 7 138596001 138596001 G A exonic KIAA1549 NA synonymous SNV KIAA1549:NM_001164665:exon4:c.C3036T:p.S1012S,KIAA1549:NM_020910:exon4:c.C3036T:p.S1012S exonic ENSG00000122778 NA synonymous SNV ENSG00000122778:ENST00000242365:exon3:c.C2886T:p.S962S,ENSG00000122778:ENST00000422774:exon4:c.C3036T:p.S1012S,ENSG00000122778:ENST00000440172:exon4:c.C3036T:p.S1012S NA NA 7q34 Score=774;Name=V$TAXCREB_02 NA NA NA rs16873582 0.07 0.07 0.081 0.0826677 0.0676 0.0575 0.0519 0.143 0.0644 0.06 0.05 0.05 0.11 0.1041 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604729 NA NA 0.079274 0.125067 NA 0.043 NA 6.4156926 1010 11 118769442 118769442 A G exonic BCL9L NA synonymous SNV BCL9L:NM_182557:exon8:c.T4182C:p.P1394P exonic ENSG00000186174 NA synonymous SNV ENSG00000186174:ENST00000334801:exon8:c.T4182C:p.P1394P NA NA 11q23.3 Score=914;Name=V$TAL1BETAITF2_01 Name=Pol2 NA NA rs7104819 0.46 0.46 0.438 0.444089 0.4135 0.2927 0.5476 0.6906 0.2249 0.42 0.29 0.52 0.66 0.4246 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15912 NA NA 0.413211 0.627843 NA 0.355 NA 6.4153556 1011 8 145139727 145139727 C T exonic GPAA1 NA synonymous SNV GPAA1:NM_003801:exon8:c.C1113T:p.I371I exonic ENSG00000197858 NA synonymous SNV ENSG00000197858:ENST00000361036:exon7:c.C933T:p.I311I,ENSG00000197858:ENST00000355091:exon8:c.C1113T:p.I371I Score=541;Name=lod=211 NA 8q24.3 NA NA NA NA rs4977165 0.12 0.12 0.123 0.123003 0.0885 0.001 0.0648 0.3404 0.0317 0.09 0.0017 0.07 0.32 0.0842 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948337 NA NA 0.079268 0.302 NA 0.123 NA 6.4146986 1011 17 16722281 16722281 G A intergenic USP32P1,KRT16P2 dist=14462;dist=11516 NA NA ncRNA_exonic ENSG00000226145 NA NA NA Score=663;Name=lod=657 NA 17p11.2 Score=856;Name=V$CMYB_01 Name=CTCFL_(SC-98982),CTCF NA NA rs6502520 0.71 0.71 0.686 0.730631 0.5855 0.9534 0.6772 0.7284 0.6912 0.59 0.96 0.67 0.61 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124924 NA NA NA NA NA 0.565 NA 6.4145 1011 16 21531111 21531111 T C ncRNA_exonic SLC7A5P2 NA NA NA ncRNA_intronic ENSG00000180747 NA NA NA NA NA 16p12.2 NA Name=Pol2 Name=11 NA rs7197243 0.1 0.1 0.076 NA NA NA NA NA NA 0.18 0.02 0.16 0.01 0.253 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.051766 NA NA NA NA NA 0.159 NA 6.4136666 1011 3 46723551 46723551 G A exonic ALS2CL NA synonymous SNV ALS2CL:NM_001190707:exon11:c.C1143T:p.H381H,ALS2CL:NM_147129:exon11:c.C1143T:p.H381H exonic ENSG00000178038 NA synonymous SNV ENSG00000178038:ENST00000318962:exon11:c.C1143T:p.H381H,ENSG00000178038:ENST00000415953:exon11:c.C1143T:p.H381H,ENSG00000178038:ENST00000431015:exon11:c.C1143T:p.H381H,ENSG00000178038:ENST00000434140:exon11:c.C1143T:p.H381H,ENSG00000178038:ENST00000450172:exon11:c.C1143T:p.H381H Score=439;Name=lod=81 NA 3p21.31 Score=856;Name=V$ARNT_01 NA NA NA rs4683310 0.33 0.33 0.288 0.313099 0.4205 0.3383 0.4063 0.0968 0.4029 0.42 0.33 0.41 0.12 0.4006 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434999 NA NA 0.432326 0.163187 NA 0.254 NA 6.4132406 1011 3 75986717 75986717 G A intergenic ZNF717,ROBO2 dist=152462;dist=1102577 NA NA exonic ENSG00000185008 NA nonsynonymous SNV ENSG00000185008:ENST00000487694:exon2:c.G73A:p.V25M,ENSG00000185008:ENST00000602589:exon2:c.G73A:p.V25M NA NA 3p12.3 NA NA NA NA rs2971727 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4201 NA 0.18 T . . . . . . 1.000 N -0.345 N -0.1 T -0.988 T 0.089 T 0.058 -0.164 3.198 2.0 0.283 0.294 4.484 -0.164376 NA 0.03 NA NA NA NA NA 6.4132334 1011 4 3319553 3319553 C T exonic RGS12 NA synonymous SNV RGS12:NM_002926:exon2:c.C1656T:p.S552S,RGS12:NM_198229:exon2:c.C1656T:p.S552S exonic ENSG00000159788 NA synonymous SNV ENSG00000159788:ENST00000382788:exon1:c.C1656T:p.S552S,ENSG00000159788:ENST00000514268:exon1:c.C1656T:p.S552S,ENSG00000159788:ENST00000336727:exon2:c.C1656T:p.S552S,ENSG00000159788:ENST00000344733:exon2:c.C1656T:p.S552S,ENSG00000159788:ENST00000543385:exon2:c.C1656T:p.S552S Score=536;Name=lod=202 NA 4p16.3 NA NA NA NA rs2281470 0.15 0.15 0.127 0.158746 0.0686 0.3363 0.1614 0.0575 0.2035 0.07 0.33 0.13 0.05 0.1127 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244477 NA NA 0.072907 0.054042 NA 0.094 NA 6.4124596 1011 20 44314609 44314609 A G exonic WFDC10B NA nonsynonymous SNV WFDC10B:NM_172006:exon3:c.T23C:p.L8P exonic ENSG00000182931 NA nonsynonymous SNV ENSG00000182931:ENST00000330523:exon3:c.T23C:p.L8P NA NA 20q13.12 NA Name=CTCF NA NA rs232729 0.82 0.82 0.814 0.849441 0.6113 0.998 0.7939 0.9697 0.818 0.61 1 0.79 0.96 0.7072 1 1 T 0.0 B 0.0 B . . 1.000 P . . 1.23 T -0.967 T 0.000 T 0.151 -1.758 0.01 -0.113 -0.216 -0.403 3.472 -1.757873 NA 0.21 0.602442 0.899228 NA 0.754 NA 6.4123914 1011 5 121355961 121355961 G A exonic SRFBP1 NA synonymous SNV SRFBP1:NM_152546:exon6:c.G531A:p.A177A exonic ENSG00000151304 NA synonymous SNV ENSG00000151304:ENST00000339397:exon6:c.G531A:p.A177A NA NA 5q23.1 NA Name=BATF NA NA rs55708726 0.09 0.09 0.068 NA NA NA NA NA NA 0.12 0.03 0.11 0.1 0.1184 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.851045 NA NA 0.135919 0.088077 NA 0.08 NA 6.4123476 1011 7 133580447 133580447 G A exonic EXOC4 NA synonymous SNV EXOC4:NM_021807:exon12:c.G1830A:p.V610V exonic ENSG00000131558 NA synonymous SNV ENSG00000131558:ENST00000545148:exon4:c.G660A:p.V220V,ENSG00000131558:ENST00000253861:exon12:c.G1830A:p.V610V,ENSG00000131558:ENST00000539845:exon12:c.G1527A:p.V509V Score=608;Name=lod=395 NA 7q33 NA NA NA Score=55;Name=2252909_0_+_55 rs2042456 0.49 0.49 0.521 0.538139 0.4165 0.4613 0.3184 0.7262 0.6442 0.42 0.5 0.37 0.69 0.4422 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950947 NA NA 0.395698 0.650477 NA 0.5 NA 6.4122686 1011 19 9324863 9324863 G A exonic OR7D4 NA synonymous SNV OR7D4:NM_001005191:exon1:c.C651T:p.S217S exonic ENSG00000174667 NA synonymous SNV ENSG00000174667:ENST00000308682:exon1:c.C651T:p.S217S Score=278;Name=lod=18 NA 19p13.2 NA NA NA NA rs8109935 0.14 0.14 0.122 0.175719 0.0626 0.0407 0.134 0.3578 0.2147 0.07 0.05 0.14 0.36 0.1132 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210034 NA NA 0.078721 0.310486 NA 0.145 NA 6.4121456 1011 15 81598416 81598416 G A exonic IL16 NA synonymous SNV IL16:NM_004513:exon5:c.G1485A:p.R495R,IL16:NM_172217:exon16:c.G3588A:p.R1196R,IL16:NM_001172128:exon17:c.G3588A:p.R1196R exonic ENSG00000172349 NA synonymous SNV ENSG00000172349:ENST00000394652:exon5:c.G1485A:p.R495R,ENSG00000172349:ENST00000302987:exon16:c.G3588A:p.R1196R,ENSG00000172349:ENST00000394660:exon17:c.G3588A:p.R1196R,ENSG00000172349:ENST00000559388:exon19:c.G3450A:p.R1150R Score=265;Name=lod=16 NA 15q25.1 NA NA NA NA rs1803275 0.15 0.15 0.153 0.146166 0.0746 0.1637 0.1614 0.2398 0.0644 0.07 0.19 0.14 0.24 0.0967 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848608 NA NA 0.083488 0.200182 NA 0.21 NA 6.4118786 1011 11 65348725 65348725 G A exonic EHBP1L1 NA synonymous SNV EHBP1L1:NM_001099409:exon8:c.G747A:p.V249V exonic ENSG00000173442 NA synonymous SNV ENSG00000173442:ENST00000309295:exon8:c.G747A:p.V249V,ENSG00000173442:ENST00000533237:exon8:c.G747A:p.V249V Score=440;Name=lod=82 NA 11q13.1 NA NA NA NA rs79021529 0.04 0.04 0.032 0.0355431 0.0924 NA 0.0432 0.0045 0.0501 0.09 NA 0.04 0.01 0.0814 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926574 NA NA 0.081426 0.017394 NA 0.007 NA 6.4114406 1011 1 78958491 78958491 C T exonic PTGFR NA synonymous SNV PTGFR:NM_000959:exon2:c.C63T:p.T21T,PTGFR:NM_001039585:exon2:c.C63T:p.T21T exonic ENSG00000122420 NA synonymous SNV ENSG00000122420:ENST00000370756:exon2:c.C63T:p.T21T,ENSG00000122420:ENST00000370757:exon2:c.C63T:p.T21T,ENSG00000122420:ENST00000497923:exon2:c.C63T:p.T21T,ENSG00000122420:ENST00000370758:exon3:c.C63T:p.T21T Score=489;Name=lod=129 NA 1p31.1 NA NA NA NA rs35227129 0.05 0.05 0.039 0.0313498 0.0944 0.001 0.0476 0.0076 0.0184 0.1 NA 0.06 0.01 0.0642 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749929 NA NA 0.096628 0.016568 NA 0.109 NA 6.4114386 1011 5 17202498 17202498 T C ncRNA_intronic LOC285696 NA NA NA ncRNA_exonic ENSG00000250816 NA NA NA Score=659;Name=lod=634 NA 5p15.1 NA NA Name=4 NA rs2956563 0.26 0.26 0.268 0.260982 0.2555 0.1964 0.2738 0.323 0.2403 0.26 0.2 0.26 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058471 NA NA NA NA NA 0.355 NA 6.4111666 1011 6 38825329 38825329 C T exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon42:c.C5769T:p.H1923H exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000441566:exon38:c.C5118T:p.H1706H,ENSG00000124721:ENST00000359357:exon40:c.C5118T:p.H1706H,ENSG00000124721:ENST00000327475:exon41:c.C5733T:p.H1911H,ENSG00000124721:ENST00000449981:exon42:c.C5769T:p.H1923H Score=581;Name=lod=307 NA 6p21.2 NA Name=STAT3 NA NA rs2061907 0.49 0.49 0.478 0.484225 0.3767 0.6944 0.6037 0.3555 0.4673 0.38 0.67 0.56 0.39 0.4523 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725272 NA NA 0.42686 0.356559 ID=COSM451394,COSM451393;OCCURENCE=1(breast) 0.565 NA 6.4108066 1011 12 15733669 15733669 G A exonic PTPRO NA synonymous SNV PTPRO:NM_030668:exon9:c.G519A:p.G173G,PTPRO:NM_030670:exon9:c.G519A:p.G173G,PTPRO:NM_030669:exon10:c.G603A:p.G201G,PTPRO:NM_030671:exon10:c.G603A:p.G201G,PTPRO:NM_002848:exon21:c.G2952A:p.G984G,PTPRO:NM_030667:exon22:c.G3036A:p.G1012G exonic ENSG00000151490 NA synonymous SNV ENSG00000151490:ENST00000542557:exon9:c.G519A:p.G173G,ENSG00000151490:ENST00000544244:exon9:c.G519A:p.G173G,ENSG00000151490:ENST00000442921:exon10:c.G603A:p.G201G,ENSG00000151490:ENST00000445537:exon10:c.G603A:p.G201G,ENSG00000151490:ENST00000348962:exon21:c.G2952A:p.G984G,ENSG00000151490:ENST00000281171:exon22:c.G3036A:p.G1012G NA NA 12p12.3 NA Name=CTCF_(C-20),Rad21,CTCF,SMC3_(ab9263) NA NA rs3748299 0.14 0.14 0.138 0.132588 0.0706 0.2986 0.049 0.0681 0.1718 0.06 0.34 0.05 0.07 0.0988 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816862 NA NA 0.086628 0.070132 NA 0.138 NA 6.4106386 1011 5 32093070 32093070 G A exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon20:c.G7785A:p.S2595S exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon20:c.G7785A:p.S2595S,ENSG00000133401:ENST00000438447:exon21:c.G7785A:p.S2595S Score=393;Name=lod=53 NA 5p13.3 NA NA NA NA rs16889442 0.12 0.12 0.115 0.117212 0.0755 0.2381 0.1398 0.0446 0.1176 0.07 0.26 0.11 0.04 0.0923 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716053 NA NA 0.08907 0.054925 NA 0.072 NA 6.4097966 1011 13 20224387 20224387 A G exonic MPHOSPH8 NA synonymous SNV MPHOSPH8:NM_017520:exon5:c.A1563G:p.A521A exonic ENSG00000196199 NA synonymous SNV ENSG00000196199:ENST00000361479:exon5:c.A1563G:p.A521A,ENSG00000196199:ENST00000414242:exon5:c.A1563G:p.A521A NA NA 13q12.11 Score=808;Name=V$OCT_C NA NA NA rs9578176 0.1 0.1 0.098 0.106629 0.0974 0.0754 0.0735 0.1974 0.0491 0.09 0.06 0.06 0.2 0.0844 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353385 NA NA 0.075116 0.177712 NA 0.174 NA 6.4097506 1011 8 145060112 145060112 G A exonic PARP10 NA synonymous SNV PARP10:NM_032789:exon3:c.C213T:p.H71H exonic ENSG00000178685 NA synonymous SNV ENSG00000178685:ENST00000525773:exon2:c.C249T:p.H83H,ENSG00000178685:ENST00000313028:exon3:c.C213T:p.H71H,ENSG00000178685:ENST00000524918:exon3:c.C213T:p.H71H,ENSG00000178685:ENST00000527262:exon3:c.C213T:p.H71H,ENSG00000178685:ENST00000525486:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000525879:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000528136:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000528625:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000528914:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000529311:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000529842:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000530478:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000531537:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000531707:exon4:c.C213T:p.H71H,ENSG00000178685:ENST00000532311:exon4:c.C213T:p.H71H NA NA 8q24.3 Score=867;Name=V$YY1_01 NA Name=22 NA rs11136345 0.38 0.38 0.414 0.391174 0.4314 0.1458 0.2795 0.6165 0.3773 0.42 0.15 0.32 0.62 0.4045 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.211158 NA NA 0.421126 0.594005 NA 0.449 NA 6.4096406 1011 1 179084080 179084080 T G exonic ABL2 NA synonymous SNV ABL2:NM_001136001:exon8:c.A1431C:p.L477L,ABL2:NM_001168236:exon8:c.A1431C:p.L477L,ABL2:NM_001168238:exon8:c.A1431C:p.L477L,ABL2:NM_001168239:exon8:c.A1386C:p.L462L,ABL2:NM_001136000:exon9:c.A1449C:p.L483L,ABL2:NM_001168237:exon9:c.A1494C:p.L498L,ABL2:NM_005158:exon9:c.A1449C:p.L483L,ABL2:NM_007314:exon9:c.A1494C:p.L498L exonic ENSG00000143322 NA synonymous SNV ENSG00000143322:ENST00000367623:exon8:c.A1431C:p.L477L,ENSG00000143322:ENST00000392043:exon8:c.A1431C:p.L477L,ENSG00000143322:ENST00000408940:exon8:c.A1386C:p.L462L,ENSG00000143322:ENST00000504405:exon8:c.A1386C:p.L462L,ENSG00000143322:ENST00000507173:exon8:c.A1431C:p.L477L,ENSG00000143322:ENST00000344730:exon9:c.A1449C:p.L483L,ENSG00000143322:ENST00000502732:exon9:c.A1494C:p.L498L,ENSG00000143322:ENST00000511413:exon9:c.A1494C:p.L498L,ENSG00000143322:ENST00000512653:exon9:c.A1449C:p.L483L Score=576;Name=lod=291 NA 1q25.2 NA NA NA NA rs2274230 0.06 0.06 0.047 0.0443291 0.0964 0.0764 0.0447 0.0076 0.0072 0.1 0.06 0.05 0.01 0.068 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693357 NA NA 0.092791 0.024739 NA 0.072 NA 6.4094756 1011 2 85808737 85808737 A G exonic VAMP8 NA synonymous SNV VAMP8:NM_003761:exon3:c.A201G:p.R67R exonic ENSG00000118640 NA synonymous SNV ENSG00000118640:ENST00000263864:exon3:c.A201G:p.R67R,ENSG00000118640:ENST00000432071:exon3:c.A123G:p.R41R Score=552;Name=lod=234 NA 2p11.2 Score=895;Name=V$HSF1_01 NA NA NA rs1009 0.45 0.45 0.437 0.439497 0.4314 0.3859 0.3473 0.5976 0.3548 0.43 0.38 0.41 0.58 0.4126 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.420714 1.420714 NA 0.413256 0.549932 ID=COSM148886;OCCURENCE=1(stomach) 0.399 NA 6.4094106 1011 11 64981522 64981522 C A exonic SLC22A20 NA nonsynonymous SNV SLC22A20:NM_001004326:exon1:c.C179A:p.A60D ncRNA_exonic ENSG00000197847 NA NA NA NA NA 11q13.1 NA Name=c-Myc,Max,Pol2 Name=8 NA rs11605576 0.3 0.3 0.297 0.287141 0.3608 0.2629 0.4611 0.1324 0.3221 0.36 0.26 0.41 0.18 0.393 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151638 NA 0.02 0.337044 0.17429 ID=COSM429596,COSM429597;OCCURENCE=1(breast) 0.312 NA 6.409156 1011 1 38453576 38453576 A C intronic SF3A3 NA NA NA intronic ENSG00000183431 NA NA NA NA NA 1p34.3 Score=947;Name=V$FOXO3_01 Name=FOXA1_(C-20),JunD,HDAC2_(SC-6296),c-Jun,FOXA1_(SC-101058),FOXA2_(SC-6554),CEBPB,p300 Name=3 NA rs10890285 0.36 0.36 0.339 0.369409 0.2893 0.502 0.3775 0.3124 0.3865 0.27 0.47 0.37 0.35 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.947175 1.947175 NA 0.301697 0.315029 NA 0.29 NA 6.409003 1011 7 142749737 142749737 C T exonic OR6V1 NA synonymous SNV OR6V1:NM_001001667:exon1:c.C300T:p.Y100Y exonic ENSG00000225781 NA synonymous SNV ENSG00000225781:ENST00000418316:exon1:c.C300T:p.Y100Y Score=340;Name=lod=32 NA 7q34 NA NA NA NA rs17164103 0.14 0.14 0.153 0.137181 0.0815 0.0347 0.0836 0.323 0.0869 0.07 0.04 0.1 0.38 0.0942 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779637 NA NA 0.083021 0.264678 NA 0.152 NA 6.4079456 1011 2 48809629 48809629 G T exonic STON1,STON1-GTF2A1L NA synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G1857T:p.V619V,STON1-GTF2A1L:NM_001198593:exon2:c.G1857T:p.V619V,STON1:NM_006873:exon2:c.G1857T:p.V619V,STON1-GTF2A1L:NM_172311:exon2:c.G1857T:p.V619V,STON1:NM_001198595:exon3:c.G1857T:p.V619V exonic ENSG00000068781,ENSG00000243244 NA synonymous SNV ENSG00000068781:ENST00000309827:exon1:c.G1857T:p.V619V,ENSG00000243244:ENST00000309835:exon1:c.G1857T:p.V619V,ENSG00000068781:ENST00000394751:exon1:c.G1857T:p.V619V,ENSG00000243244:ENST00000444932:exon1:c.G195T:p.V65V,ENSG00000068781:ENST00000394754:exon2:c.G1857T:p.V619V,ENSG00000068781:ENST00000402114:exon2:c.G1857T:p.V619V,ENSG00000243244:ENST00000404752:exon2:c.G1857T:p.V619V,ENSG00000068781:ENST00000405008:exon2:c.G1857T:p.V619V,ENSG00000243244:ENST00000406226:exon3:c.G1857T:p.V619V Score=616;Name=lod=427 NA 2p16.3 NA NA NA NA rs17397707 0.05 0.05 0.036 0.0271565 0.1024 NA 0.0375 0.0015 0.0051 0.11 NA 0.05 0.002 0.0662 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297114 NA NA 0.091512 0.0202 NA 0.022 NA 6.4065546 1011 1 24406647 24406647 G A exonic MYOM3 NA synonymous SNV MYOM3:NM_152372:exon20:c.C2445T:p.A815A exonic ENSG00000142661 NA synonymous SNV ENSG00000142661:ENST00000329601:exon20:c.C2445T:p.A815A,ENSG00000142661:ENST00000330966:exon20:c.C2448T:p.A816A,ENSG00000142661:ENST00000374434:exon20:c.C2445T:p.A815A Score=349;Name=lod=35 NA 1p36.11 Score=744;Name=V$NRSF_01 NA NA NA rs4649175 0.39 0.39 0.384 0.354233 0.4423 0.4276 0.3444 0.3238 0.2362 0.45 0.43 0.33 0.29 0.3933 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115823 NA NA 0.42473 0.311656 NA 0.304 NA 6.4063366 1011 21 47838123 47838123 A G exonic PCNT NA synonymous SNV PCNT:NM_006031:exon31:c.A6927G:p.K2309K exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon31:c.A6927G:p.K2309K Score=444;Name=lod=85 NA 21q22.3 NA NA NA NA rs2839246 0.14 0.14 0.143 0.178315 0.0924 0.005 0.0937 0.4856 0.09 0.08 0.0035 0.1 0.43 0.103 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270907 NA NA 0.065116 0.399682 NA 0.196 NA 6.4061506 1011 6 84799059 84799059 C T exonic MRAP2 NA synonymous SNV MRAP2:NM_138409:exon4:c.C477T:p.N159N exonic ENSG00000135324 NA synonymous SNV ENSG00000135324:ENST00000257776:exon4:c.C477T:p.N159N Score=520;Name=lod=173 NA 6q14.2 NA NA NA NA rs9449776 0.18 0.18 0.191 0.207468 0.0726 0.0099 0.1455 0.5802 0.09 0.07 0.01 0.15 0.57 0.1139 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972631 NA NA 0.074186 0.520881 NA 0.225 NA 6.4059806 1011 8 61178574 61178574 T C exonic CA8 NA synonymous SNV CA8:NM_004056:exon3:c.A327G:p.E109E exonic ENSG00000178538 NA synonymous SNV ENSG00000178538:ENST00000317995:exon3:c.A327G:p.E109E Score=650;Name=lod=582 NA 8q12.1 NA NA NA NA rs7464181 0.47 0.47 0.494 0.500998 0.4235 0.2669 0.3977 0.8457 0.4294 0.42 0.28 0.41 0.81 0.4279 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.414422 1.414422 NA 0.409651 0.759646 NA 0.58 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116510.2;CLNDSDB=.;CLNDSDBID=. 6.4056156 1011 5 160721319 160721319 G A exonic GABRB2 NA synonymous SNV GABRB2:NM_000813:exon10:c.C1194T:p.A398A,GABRB2:NM_021911:exon11:c.C1308T:p.A436A exonic ENSG00000145864 NA synonymous SNV ENSG00000145864:ENST00000517547:exon7:c.C714T:p.A238A,ENSG00000145864:ENST00000517901:exon9:c.C1005T:p.A335A,ENSG00000145864:ENST00000353437:exon10:c.C1194T:p.A398A,ENSG00000145864:ENST00000393959:exon10:c.C1308T:p.A436A,ENSG00000145864:ENST00000520240:exon10:c.C1194T:p.A398A,ENSG00000145864:ENST00000274547:exon11:c.C1308T:p.A436A Score=586;Name=lod=321 NA 5q34 NA NA NA NA rs2229944 0.11 0.11 0.088 0.117812 0.0785 0.0347 0.232 0.1596 0.1063 0.08 0.04 0.19 0.17 0.1059 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045733 NA NA 0.076977 0.15025 NA 0.094 NA 6.4052896 1011 19 41009982 41009982 C T exonic SPTBN4 NA synonymous SNV SPTBN4:NM_020971:exon12:c.C1608T:p.A536A exonic ENSG00000160460 NA synonymous SNV ENSG00000160460:ENST00000338932:exon12:c.C1608T:p.A536A,ENSG00000160460:ENST00000344104:exon12:c.C1608T:p.A536A,ENSG00000160460:ENST00000352632:exon12:c.C1608T:p.A536A,ENSG00000160460:ENST00000595535:exon12:c.C1608T:p.A536A,ENSG00000160460:ENST00000598249:exon12:c.C1608T:p.A536A Score=624;Name=lod=457 NA 19q13.2 NA NA NA NA rs71358911 0.04 0.04 0.031 0.024361 0.0865 NA 0.0259 0.0061 0.0092 0.09 NA 0.02 0.01 0.0665 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300589 1.300589 NA 0.108488 0.018157 NA 0.029 NA 6.4051786 1012 8 69020496 69020496 T C exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon24:c.T2868C:p.S956S exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon24:c.T2868C:p.S956S Score=597;Name=lod=355 NA 8q13.2 Score=809;Name=V$OLF1_01 NA NA NA rs4260880 0.47 0.47 0.498 0.479832 0.4085 0.4663 0.464 0.5265 0.5153 0.42 0.5 0.44 0.55 0.4483 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36664 1.36664 NA 0.404884 0.519973 NA 0.522 NA 6.4049826 1012 13 31495733 31495733 C T exonic MEDAG NA synonymous SNV MEDAG:NM_032849:exon4:c.C537T:p.P179P exonic ENSG00000102802 NA synonymous SNV ENSG00000102802:ENST00000380482:exon4:c.C537T:p.P179P Score=403;Name=lod=58 NA 13q12.3 NA NA NA NA rs6563571 0.09 0.09 0.077 0.0872604 0.0994 0.0139 0.1239 0.1324 0.0634 0.11 0.01 0.12 0.13 0.0826 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.08252 NA NA 0.079767 0.124376 NA 0.181 NA 6.4048996 1012 15 100649248 100649248 G A exonic ADAMTS17 NA synonymous SNV ADAMTS17:NM_139057:exon14:c.C1962T:p.D654D exonic ENSG00000140470 NA synonymous SNV ENSG00000140470:ENST00000268070:exon14:c.C1962T:p.D654D Score=483;Name=lod=123 NA 15q26.3 NA NA NA NA rs61752832 0.08 0.08 0.08 0.0852636 0.0875 0.0536 0.0648 0.0915 0.1217 0.09 0.06 0.07 0.1 0.0859 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.508337 1.508337 NA 0.088372 0.087608 NA 0.13 NA 6.4048946 1012 5 178634672 178634672 C T exonic ADAMTS2 NA nonsynonymous SNV ADAMTS2:NM_014244:exon4:c.G733A:p.V245I,ADAMTS2:NM_021599:exon4:c.G733A:p.V245I exonic ENSG00000087116 NA nonsynonymous SNV ENSG00000087116:ENST00000251582:exon4:c.G733A:p.V245I,ENSG00000087116:ENST00000274609:exon4:c.G733A:p.V245I NA NA 5q35.3 NA NA NA NA rs398829 0.4 0.4 0.389 0.431909 0.2763 0.6349 0.2565 0.4054 0.5429 0.27 0.64 0.27 0.4 0.3554 0.64 0.48 T 0.003 B 0.003 B 0.746 N 1.000 P 1.59 L 0.28 T -0.916 T 0.000 T 0.031 -0.107 3.478 1.18 0.250 -0.564 6.688 -0.10659 NA 0.56 0.297093 0.379936 NA 0.232 NA 6.4045404 1012 10 99969568 99969568 A G exonic R3HCC1L NA nonsynonymous SNV R3HCC1L:NM_001256620:exon4:c.A1697G:p.H566R,R3HCC1L:NM_014472:exon4:c.A1697G:p.H566R,R3HCC1L:NM_001256619:exon5:c.A1697G:p.H566R,R3HCC1L:NM_138469:exon5:c.A1697G:p.H566R exonic ENSG00000166024 NA nonsynonymous SNV ENSG00000166024:ENST00000370584:exon4:c.A1697G:p.H566R,ENSG00000166024:ENST00000298999:exon5:c.A1697G:p.H566R NA NA 10q24.2 NA NA NA NA rs11189513 0.28 0.28 0.251 0.288538 0.3062 0.3542 0.3761 0.087 0.4131 0.32 0.33 0.34 0.11 0.3222 0.34 . . 0.01 B 0.01 B 0.698 N 1.000 P 1.3 L 3.32 T -0.901 T 0.000 T 0.019 -0.893 0.452 -1.98 -0.269 -0.007 6.626 -0.893451 NA 0.08 0.301279 0.126872 NA 0.225 NA 6.4036544 1012 1 229773441 229773441 C T exonic URB2 NA synonymous SNV URB2:NM_014777:exon4:c.C3081T:p.T1027T exonic ENSG00000135763 NA synonymous SNV ENSG00000135763:ENST00000258243:exon4:c.C3081T:p.T1027T NA NA 1q42.13 Score=855;Name=V$GFI1_01 NA NA NA rs3811475 0.23 0.23 0.223 0.205072 0.0626 0.4315 0.2464 0.2156 0.0746 0.06 0.47 0.21 0.23 0.1373 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269504 1.269504 NA 0.064535 0.21153 NA 0.203 NA 6.4022316 1012 21 47851753 47851753 A G exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon38:c.A8375G:p.Q2792R exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon38:c.A8375G:p.Q2792R NA NA 21q22.3 NA NA NA NA rs2073376 0.68 0.68 0.709 0.669928 0.6511 0.619 0.5447 0.8306 0.6135 0.66 0.65 0.56 0.82 0.6397 0.82 0.75 T 0.0 B 0.0 B 0.125 N 1.000 P -0.625 N 5.0 T -1.097 T 0.000 T 0.042 -1.982 0.007 2.32 0.020 0.246 8.706 -1.982483 NA 1 0.640349 0.792329 NA 0.71 NA 6.4021844 1012 2 228398422 228398422 A G exonic AGFG1 NA synonymous SNV AGFG1:NM_001135189:exon6:c.A852G:p.A284A,AGFG1:NM_001135188:exon7:c.A972G:p.A324A,AGFG1:NM_004504:exon7:c.A972G:p.A324A,AGFG1:NM_001135187:exon8:c.A1044G:p.A348A exonic ENSG00000173744 NA synonymous SNV ENSG00000173744:ENST00000373671:exon6:c.A852G:p.A284A,ENSG00000173744:ENST00000310078:exon7:c.A972G:p.A324A,ENSG00000173744:ENST00000409171:exon7:c.A972G:p.A324A,ENSG00000173744:ENST00000409315:exon7:c.A972G:p.A324A,ENSG00000173744:ENST00000409979:exon8:c.A1044G:p.A348A Score=719;Name=lod=1110 NA 2q36.3 NA NA NA NA rs13015491 0.09 0.09 0.073 0.0694888 0.0964 0.1042 0.1455 0.0023 0.0429 0.1 0.12 0.12 0.0041 0.0858 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.207271 NA NA 0.082326 0.021108 ID=COSM149082;OCCURENCE=1(stomach) 0.036 NA 6.4021406 1012 21 47831618 47831618 C T exonic PCNT NA synonymous SNV PCNT:NM_006031:exon28:c.C5631T:p.I1877I exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon28:c.C5631T:p.I1877I NA NA 21q22.3 NA NA NA NA rs16979162 0.16 0.16 0.152 0.178115 0.0895 0.004 0.0937 0.4879 0.09 0.09 0.0035 0.1 0.48 0.1022 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470329 NA NA 0.073625 0.41788 NA 0.196 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081354.1|RCV000127369.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.4013416 1012 4 36152584 36152584 G T exonic ARAP2 NA synonymous SNV ARAP2:NM_015230:exon16:c.C2835A:p.T945T exonic ENSG00000047365 NA synonymous SNV ENSG00000047365:ENST00000303965:exon16:c.C2835A:p.T945T Score=645;Name=lod=560 NA 4p14 NA NA NA NA rs13148785 0.05 0.05 0.053 0.0549121 0.0934 NA 0.0461 0.0862 0.0358 0.09 NA 0.05 0.07 0.0745 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.044771 NA NA 0.098534 0.092828 NA 0.116 NA 6.4002326 1012 17 74014668 74014668 T C exonic EVPL NA nonsynonymous SNV EVPL:NM_001988:exon12:c.A1298G:p.Q433R exonic ENSG00000167880 NA nonsynonymous SNV ENSG00000167880:ENST00000301607:exon12:c.A1298G:p.Q433R,ENSG00000167880:ENST00000586740:exon12:c.A1298G:p.Q433R NA NA 17q25.1 NA NA NA NA rs2071192 0.66 0.66 0.638 0.675919 0.6193 0.755 0.6326 0.6286 0.7474 0.63 0.74 0.63 0.62 0.669 0.74 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.045 N 0.49 T -0.922 T 0.000 T 0.043 -1.97 0.007 0.862 -0.158 0.965 10.664 -1.969808 NA NA 0.64515 0.64049 NA 0.594 NA 6.3998834 1012 2 24290671 24290671 G A exonic SF3B14 NA synonymous SNV SF3B14:NM_016047:exon4:c.C339T:p.L113L exonic ENSG00000115128 NA synonymous SNV ENSG00000115128:ENST00000233468:exon4:c.C339T:p.L113L Score=627;Name=lod=471 NA 2p23.3 NA NA NA NA rs61742149 0.04 0.04 0.036 0.034345 0.0895 0.001 0.062 0.0038 0.0337 0.08 NA 0.07 0.01 0.0696 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988875 NA NA 0.107907 0.019982 NA 0.036 NA 6.3996596 1012 13 42442546 42442546 A G exonic VWA8 NA nonsynonymous SNV VWA8:NM_001009814:exon10:c.T1148C:p.M383T,VWA8:NM_015058:exon10:c.T1148C:p.M383T exonic ENSG00000102763 NA nonsynonymous SNV ENSG00000102763:ENST00000281496:exon10:c.T1148C:p.M383T,ENSG00000102763:ENST00000379310:exon10:c.T1148C:p.M383T NA NA 13q14.11 NA NA NA NA rs3742262 0.24 0.24 0.218 0.222244 0.3231 0.1895 0.3026 0.056 0.32 0.34 0.21 0.32 0.07 0.2882 0.34 0.58 T 0.0 B 0.0 B 0.857 N 1.000 P -1.245 N 3.09 T -0.910 T 0.000 T 0.024 -2.267 0.004 0.953 0.025 0.140 5.176 -2.267391 NA 0.65 0.322442 0.086473 NA 0.254 NA 6.3995914 1012 18 72347482 72347482 T C exonic ZNF407 NA synonymous SNV ZNF407:NM_001146189:exon1:c.T4507C:p.L1503L,ZNF407:NM_001146190:exon1:c.T4507C:p.L1503L,ZNF407:NM_017757:exon1:c.T4507C:p.L1503L exonic ENSG00000215421 NA synonymous SNV ENSG00000215421:ENST00000299687:exon1:c.T4507C:p.L1503L,ENSG00000215421:ENST00000309902:exon1:c.T4507C:p.L1503L,ENSG00000215421:ENST00000577538:exon1:c.T4507C:p.L1503L,ENSG00000215421:ENST00000582337:exon2:c.T4507C:p.L1503L Score=444;Name=lod=85 NA 18q22.3 NA NA NA NA rs12327359 0.41 0.41 0.415 0.423922 0.4175 0.1845 0.3271 0.7201 0.3456 0.42 0.18 0.38 0.7 0.4198 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636977 NA NA 0.430204 0.688169 ID=COSM1130046;OCCURENCE=1(prostate) 0.58 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118940.2;CLNDSDB=.;CLNDSDBID=. 6.3991626 1012 5 52369086 52369086 G A exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon20:c.G2568A:p.L856L exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon20:c.G2568A:p.L856L,ENSG00000164171:ENST00000510722:exon20:c.G2568A:p.L856L Score=343;Name=lod=33 NA 5q11.2 NA NA NA NA rs3213805 0.1 0.1 0.112 0.0948482 0.0885 0.0188 0.0663 0.2027 0.0542 0.09 0.01 0.06 0.25 0.0835 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.20747 NA NA 0.096163 0.180436 ID=COSM449741;OCCURENCE=1(breast) 0.109 NA 6.3985036 1012 15 79224747 79224747 C T exonic CTSH NA synonymous SNV CTSH:NM_004390:exon6:c.G459A:p.A153A exonic ENSG00000103811 NA nonsynonymous SNV ENSG00000103811:ENST00000525807:exon2:c.G131A:p.R44Q NA NA 15q25.1 NA NA Name=5 NA rs13345 0.31 0.31 0.344 0.302915 0.1909 0.3214 0.2219 0.5166 0.1677 0.2 0.33 0.22 0.52 0.2207 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48435 NA NA 0.190426 0.449909 ID=COSM1162588;OCCURENCE=1(pancreas) 0.362 NA 6.397974 1012 11 194441 194441 C T exonic LOC653486,SCGB1C1 NA synonymous SNV LOC653486:NM_001097610:exon3:c.C279T:p.D93D,SCGB1C1:NM_145651:exon3:c.C279T:p.D93D exonic ENSG00000188076 NA synonymous SNV ENSG00000188076:ENST00000342878:exon3:c.C279T:p.D93D NA NA 11p15.5 NA NA Name=33 NA rs61997072 0.12 0.12 0.096 NA NA NA NA NA NA 0.12 0.13 0.11 0.09 0.1446 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137205 NA NA 0.124765 0.084797 NA 0.007 NA 6.3973016 1012 6 29555809 29555809 C T exonic OR2H2 NA nonsynonymous SNV OR2H2:NM_007160:exon1:c.C88T:p.L30F exonic ENSG00000204657 NA nonsynonymous SNV ENSG00000204657:ENST00000383640:exon1:c.C88T:p.L30F NA NA 6p22.1 NA NA NA NA rs3129034 0.78 0.78 0.784 0.802915 0.6203 0.8899 0.745 0.9077 0.8006 0.61 0.89 0.75 0.93 0.7012 0.93 0.14 T 0.003 B 0.012 B 0.897 N 0.999 P 2.015 M 4.63 T -0.975 T 0.003 T 0.037 -0.059 3.716 0.682 -0.025 -0.148 9.030 -0.058501 NA 0.18 0.614803 0.872601 NA 0.696 NA 6.3970304 1012 17 56690848 56690848 T C exonic TEX14 NA synonymous SNV TEX14:NM_001201457:exon9:c.A957G:p.L319L,TEX14:NM_031272:exon9:c.A939G:p.L313L,TEX14:NM_198393:exon9:c.A939G:p.L313L exonic ENSG00000121101 NA synonymous SNV ENSG00000121101:ENST00000240361:exon9:c.A957G:p.L319L,ENSG00000121101:ENST00000349033:exon9:c.A939G:p.L313L,ENSG00000121101:ENST00000389934:exon9:c.A939G:p.L313L Score=433;Name=lod=77 NA 17q22 NA NA NA NA rs8077548 0.18 0.18 0.182 0.233427 0.0726 0.3036 0.0663 0.3328 0.3108 0.08 0.27 0.07 0.32 0.1315 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366829 NA NA 0.065581 0.273491 ID=COSM148309,COSM148308;OCCURENCE=1(stomach) 0.138 NA 6.3969856 1012 5 52351876 52351876 A G exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon9:c.A993G:p.A331A exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon9:c.A993G:p.A331A,ENSG00000164171:ENST00000509814:exon9:c.A993G:p.A331A,ENSG00000164171:ENST00000509960:exon9:c.A993G:p.A331A,ENSG00000164171:ENST00000510722:exon9:c.A993G:p.A331A Score=571;Name=lod=279 NA 5q11.2 NA NA NA NA rs3212523 0.08 0.08 0.103 0.0978435 0.0895 0.0327 0.0605 0.1717 0.1002 0.09 0.02 0.05 0.18 0.0866 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.281147 1.281147 NA 0.094717 0.154475 NA 0.101 NA 6.3958496 1012 5 178391860 178391860 G A exonic ZNF454 NA nonsynonymous SNV ZNF454:NM_001178089:exon5:c.G455A:p.C152Y,ZNF454:NM_001178090:exon5:c.G455A:p.C152Y,ZNF454:NM_182594:exon5:c.G455A:p.C152Y exonic ENSG00000178187 NA nonsynonymous SNV ENSG00000178187:ENST00000320129:exon5:c.G455A:p.C152Y,ENSG00000178187:ENST00000519564:exon5:c.G455A:p.C152Y NA NA 5q35.3 NA NA NA NA rs6867221 0.28 0.28 0.267 0.271366 0.3131 0.3403 0.281 0.1104 0.3681 0.32 0.36 0.27 0.13 0.3072 0.36 0.17 T 0.028 B 0.01 B 0.001 N 1.000 P 0 N 3.75 T -0.908 T 0.000 T 0.117 0.772 8.08 1.45 0.153 0.406 1.845 0.772256 NA 0.6 0.317209 0.142306 NA 0.232 NA 6.3958244 1012 5 150639409 150639409 A G exonic GM2A NA nonsynonymous SNV GM2A:NM_000405:exon2:c.A175G:p.I59V,GM2A:NM_001167607:exon2:c.A175G:p.I59V exonic ENSG00000196743 NA nonsynonymous SNV ENSG00000196743:ENST00000357164:exon2:c.A175G:p.I59V,ENSG00000196743:ENST00000523466:exon3:c.A220G:p.I74V NA NA 5q33.1 NA NA NA NA rs153477 0.64 0.64 0.626 0.663938 0.6471 0.6637 0.7392 0.5666 0.7597 0.64 0.68 0.7 0.54 0.6645 0.7 1 T 0.0 B 0.0 B 0.459 N 1.000 P -0.35 N -0.77 T -0.956 T 0.000 T 0.182 0.061 4.333 -0.554 -0.230 -0.998 2.277 0.061288 NA 0.52 0.626512 0.573763 NA 0.696 NA 6.3952214 1013 3 8809703 8809703 G A exonic OXTR NA synonymous SNV OXTR:NM_000916:exon3:c.C171T:p.N57N exonic ENSG00000180914 NA synonymous SNV ENSG00000180914:ENST00000449615:exon2:c.C171T:p.N57N,ENSG00000180914:ENST00000316793:exon3:c.C171T:p.N57N Score=676;Name=lod=743 NA 3p25.3 NA Name=CTCF,Rad21,CTCF_(C-20),CTCF_(SC-5916),Pol2,CtBP2 Name=86 NA rs2228485 0.68 0.68 0.75 0.717851 0.7604 0.7272 0.5937 0.6377 0.8609 0.73 0.71 0.57 0.64 0.754 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20317 NA NA 0.757752 0.649203 NA 0.014 NA 6.3945146 1013 1 109338861 109338861 G C exonic STXBP3 NA synonymous SNV STXBP3:NM_007269:exon14:c.G1116C:p.L372L exonic ENSG00000116266 NA synonymous SNV ENSG00000116266:ENST00000370008:exon14:c.G1116C:p.L372L Score=603;Name=lod=376 NA 1p13.3 Score=840;Name=V$HMX1_01 NA NA NA rs1127635 0.32 0.32 0.306 0.329473 0.4334 0.1925 0.3213 0.2731 0.4458 0.44 0.2 0.35 0.27 0.3948 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775705 NA NA 0.443953 0.302996 NA 0.37 NA 6.3945136 1013 22 42905165 42905165 G A ncRNA_UTR3 RRP7A NA NA NA ncRNA_intronic ENSG00000172250 NA NA NA NA NA 22q13.2 NA Name=Pol2,Pol2-4H8 Name=4 NA rs55732408 0.09 0.09 0.065 0.0756789 0.1461 0.003 0.1758 0.0567 0.0327 0.14 0.0017 0.2 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772873 NA NA 0.126336 0.07948 NA 0.138 NA 6.3942306 1013 1 11905981 11905981 A G ncRNA_UTR3 NPPA NA NA NA ncRNA_UTR3 ENSG00000175206 NA NA NA NA NA 1p36.22 NA Name=ZBTB7A_(SC-34508),NRSF,CTCF Name=68 NA rs5067 0.14 0.14 0.156 0.179113 0.1233 0.0129 0.1138 0.4183 0.1309 0.11 0.01 0.11 0.35 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449818 NA NA 0.149591 0.416185 NA 0.188 NA 6.3937756 1013 14 56078739 56078739 T G UTR5 KTN1 NM_001079522:c.-28T>G,NM_001271014:c.-28T>G,NM_004986:c.-28T>G,NM_001079521:c.-28T>G NA NA UTR5 ENSG00000126777 ENST00000557267:c.-28T>G,ENST00000395309:c.-28T>G,ENST00000413890:c.-28T>G,ENST00000555498:c.-28T>G,ENST00000438792:c.-28T>G,ENST00000395314:c.-28T>G,ENST00000459737:c.-28T>G,ENST00000395308:c.-28T>G,ENST00000395311:c.-28T>G,ENST00000416613:c.-28T>G NA NA Score=295;Name=lod=21 NA 14q22.3 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) Name=2 NA rs1138345 0.27 0.27 0.238 0.259385 0.3191 0.376 0.2435 0.1051 0.2975 0.31 0.36 0.24 0.12 0.2988 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17673 NA NA 0.322892 0.158026 ID=COSN164678;OCCURENCE=1(breast) 0.188 NA 6.3925414 1013 10 12867598 12867598 C G exonic CAMK1D NA synonymous SNV CAMK1D:NM_020397:exon10:c.C948G:p.V316V,CAMK1D:NM_153498:exon10:c.C948G:p.V316V exonic ENSG00000183049 NA synonymous SNV ENSG00000183049:ENST00000378845:exon10:c.C948G:p.V316V,ENSG00000183049:ENST00000378847:exon10:c.C948G:p.V316V Score=471;Name=lod=109 NA 10p13 Score=825;Name=V$ATF_01 NA Name=30 NA rs1757051 0.77 0.77 0.777 0.773962 0.7634 0.8542 0.7219 0.6997 0.8395 0.77 0.84 0.73 0.72 0.757 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713628 NA NA 0.75407 0.712438 NA 0.645 NA 6.3921966 1013 8 11667179 11667179 C T exonic FDFT1 NA synonymous SNV FDFT1:NM_004462:exon3:c.C201T:p.N67N exonic ENSG00000079459 NA nonsynonymous SNV ENSG00000079459:ENST00000529464:exon2:c.C103T:p.R35C Score=387;Name=lod=50 NA 8p23.1 NA NA NA NA rs8417 0.23 0.23 0.219 0.237819 0.1918 0.4474 0.2406 0.0923 0.2638 0.19 0.42 0.22 0.09 0.2242 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.489158 1.489158 NA 0.192093 0.116659 NA 0.203 NA 6.391907 1013 16 88706330 88706330 C T exonic IL17C NA synonymous SNV IL17C:NM_013278:exon3:c.C444T:p.S148S exonic ENSG00000124391 NA synonymous SNV ENSG00000124391:ENST00000244241:exon3:c.C444T:p.S148S NA NA 16q24.3 NA NA Name=9 NA rs11076688 0.06 0.06 0.053 0.0613019 0.0865 0.004 0.1066 0.0484 0.0798 0.09 0.0035 0.1 0.05 0.0967 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315504 NA NA 0.091647 0.050434 NA 0.065 NA 6.3918196 1013 8 144993377 144993377 A G exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.T10570C:p.L3524L,PLEC:NM_201379:exon32:c.T10546C:p.L3516L,PLEC:NM_201380:exon32:c.T11023C:p.L3675L,PLEC:NM_201381:exon32:c.T10516C:p.L3506L,PLEC:NM_201382:exon32:c.T10612C:p.L3538L,PLEC:NM_201383:exon32:c.T10624C:p.L3542L,PLEC:NM_201384:exon32:c.T10612C:p.L3538L,PLEC:NM_000445:exon33:c.T10693C:p.L3565L exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.T11023C:p.L3675L,ENSG00000178209:ENST00000345136:exon32:c.T10612C:p.L3538L,ENSG00000178209:ENST00000354589:exon32:c.T10612C:p.L3538L,ENSG00000178209:ENST00000354958:exon32:c.T10546C:p.L3516L,ENSG00000178209:ENST00000356346:exon32:c.T10570C:p.L3524L,ENSG00000178209:ENST00000357649:exon32:c.T10624C:p.L3542L,ENSG00000178209:ENST00000398774:exon32:c.T10516C:p.L3506L,ENSG00000178209:ENST00000527096:exon32:c.T10681C:p.L3561L,ENSG00000178209:ENST00000436759:exon33:c.T10693C:p.L3565L Score=329;Name=lod=29 NA 8q24.3 NA NA NA NA rs6992333 0.45 0.45 0.466 0.471845 0.4324 0.1438 0.3746 0.8918 0.3517 0.42 0.16 0.39 0.86 0.4148 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.237602 NA NA 0.428588 0.835526 NA 0.333 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078833.3;CLNDSDB=.;CLNDSDBID=. 6.3908786 1013 2 108875244 108875244 T C exonic SULT1C3 NA nonsynonymous SNV SULT1C3:NM_001008743:exon5:c.T581C:p.M194T exonic ENSG00000196228 NA nonsynonymous SNV ENSG00000196228:ENST00000329106:exon5:c.T581C:p.M194T,ENSG00000196228:ENST00000376700:exon5:c.T581C:p.M194T NA NA 2q12.3 NA NA NA NA rs6722745 0.53 0.53 0.522 0.508387 0.2753 0.7063 0.4712 0.6679 0.3548 0.3 0.77 0.46 0.65 0.3916 0.77 0.89 T 0.0 B 0.0 B 0.277 N 1.000 P -1.02 N 4.76 T -1.064 T 0.000 T 0.014 -1.294 0.039 0.643 -0.292 0.256 1.878 -1.29425 NA 0.67 0.27593 0.61961 NA 0.449 NA 6.3905034 1013 19 52521296 52521296 G A exonic ZNF614 NA nonsynonymous SNV ZNF614:NM_025040:exon4:c.C203T:p.T68I exonic ENSG00000142556 NA nonsynonymous SNV ENSG00000142556:ENST00000270649:exon4:c.C203T:p.T68I,ENSG00000142556:ENST00000356322:exon4:c.C203T:p.T68I,ENSG00000142556:ENST00000595189:exon4:c.C203T:p.T68I NA NA 19q13.41 NA NA NA NA rs9636139 0.48 0.48 0.5 0.542931 0.2813 0.5238 0.4438 0.7587 0.6104 0.29 0.53 0.41 0.77 0.3922 0.77 1 T 0.009 B 0.008 B . . 1.000 P -0.38 N 6.15 T -1.008 T 0.000 T 0.005 -1.418 0.022 -0.514 -0.570 -0.216 5.233 -1.41794 NA 0.32 0.270698 0.707444 NA 0.5 NA 6.3891354 1013 3 115571364 115571364 C T exonic LSAMP NA synonymous SNV LSAMP:NM_002338:exon4:c.G615A:p.S205S exonic ENSG00000185565 NA synonymous SNV ENSG00000185565:ENST00000333617:exon4:c.G567A:p.S189S,ENSG00000185565:ENST00000490035:exon4:c.G615A:p.S205S,ENSG00000185565:ENST00000539563:exon5:c.G606A:p.S202S NA NA 3q13.31 Score=810;Name=V$COMP1_01 NA NA NA rs3821560 0.12 0.12 0.102 0.132788 0.0855 0.1756 0.304 0.0303 0.1544 0.08 0.17 0.25 0.03 0.1155 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770651 NA NA 0.077209 0.039038 ID=COSM149448;OCCURENCE=1(stomach) 0.08 NA 6.3884576 1013 16 75675609 75675609 T C exonic KARS NA synonymous SNV KARS:NM_005548:exon2:c.A75G:p.R25R,KARS:NM_001130089:exon3:c.A159G:p.R53R exonic ENSG00000065427 NA synonymous SNV ENSG00000065427:ENST00000302445:exon2:c.A75G:p.R25R,ENSG00000065427:ENST00000562875:exon2:c.A75G:p.R25R,ENSG00000065427:ENST00000319410:exon3:c.A159G:p.R53R,ENSG00000065427:ENST00000564578:exon3:c.A159G:p.R53R,ENSG00000065427:ENST00000570215:exon3:c.A159G:p.R53R Score=554;Name=lod=239 NA 16q23.1 NA NA NA NA rs5030748 0.04 0.04 0.036 0.0297524 0.0964 NA 0.0403 0.0053 0.0174 0.09 NA 0.04 0.01 0.0724 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.490193 1.490193 NA 0.109535 0.025933 NA 0.065 NA 6.3883316 1013 8 144990528 144990528 A G exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.T13419C:p.A4473A,PLEC:NM_201379:exon32:c.T13395C:p.A4465A,PLEC:NM_201380:exon32:c.T13872C:p.A4624A,PLEC:NM_201381:exon32:c.T13365C:p.A4455A,PLEC:NM_201382:exon32:c.T13461C:p.A4487A,PLEC:NM_201383:exon32:c.T13473C:p.A4491A,PLEC:NM_201384:exon32:c.T13461C:p.A4487A,PLEC:NM_000445:exon33:c.T13542C:p.A4514A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.T13872C:p.A4624A,ENSG00000178209:ENST00000345136:exon32:c.T13461C:p.A4487A,ENSG00000178209:ENST00000354589:exon32:c.T13461C:p.A4487A,ENSG00000178209:ENST00000354958:exon32:c.T13395C:p.A4465A,ENSG00000178209:ENST00000356346:exon32:c.T13419C:p.A4473A,ENSG00000178209:ENST00000357649:exon32:c.T13473C:p.A4491A,ENSG00000178209:ENST00000398774:exon32:c.T13365C:p.A4455A,ENSG00000178209:ENST00000527096:exon32:c.T13530C:p.A4510A,ENSG00000178209:ENST00000436759:exon33:c.T13542C:p.A4514A NA NA 8q24.3 Score=857;Name=V$ZID_01 NA NA NA rs7014582 0.45 0.45 0.372 0.477037 0.4404 0.1508 0.3746 0.8979 0.3548 0.43 0.17 0.4 0.86 0.4191 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123146 NA NA 0.418956 0.820208 NA 0.399 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078848.3;CLNDSDB=.;CLNDSDBID=. 6.3882106 1013 1 27878162 27878162 C T exonic AHDC1 NA synonymous SNV AHDC1:NM_001029882:exon6:c.G465A:p.P155P exonic ENSG00000126705 NA synonymous SNV ENSG00000126705:ENST00000247087:exon5:c.G465A:p.P155P,ENSG00000126705:ENST00000374011:exon6:c.G465A:p.P155P NA NA 1p36.11 Score=869;Name=V$E47_01 NA NA NA rs112179924 0.07 0.07 0.077 0.0555112 0.1153 0.004 0.0432 0.0756 0.0286 0.11 0.01 0.04 0.09 0.0718 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139264 NA NA 0.091395 0.089197 NA 0.072 NA 6.3881716 1013 8 27255128 27255128 T C exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon2:c.T27C:p.S9S,PTK2B:NM_173176:exon2:c.T27C:p.S9S,PTK2B:NM_004103:exon3:c.T27C:p.S9S,PTK2B:NM_173174:exon7:c.T27C:p.S9S exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon1:c.T27C:p.S9S,ENSG00000120899:ENST00000346049:exon2:c.T27C:p.S9S,ENSG00000120899:ENST00000412793:exon2:c.T27C:p.S9S,ENSG00000120899:ENST00000420218:exon2:c.T27C:p.S9S,ENSG00000120899:ENST00000522517:exon2:c.T27C:p.S9S,ENSG00000120899:ENST00000521164:exon3:c.T27C:p.S9S,ENSG00000120899:ENST00000522338:exon4:c.T27C:p.S9S,ENSG00000120899:ENST00000544172:exon6:c.T27C:p.S9S,ENSG00000120899:ENST00000338238:exon7:c.T27C:p.S9S,ENSG00000120899:ENST00000397501:exon7:c.T27C:p.S9S Score=511;Name=lod=159 NA 8p21.2 Score=894;Name=V$ARP1_01 NA NA NA rs1045510 0.34 0.34 0.327 0.318091 0.4324 0.2748 0.3818 0.2057 0.3517 0.44 0.27 0.38 0.22 0.3997 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.502433 1.502433 NA 0.446628 0.23241 NA 0.304 NA 6.3879386 1013 1 104116413 104116413 T C exonic AMY2B NA synonymous SNV AMY2B:NM_020978:exon6:c.T597C:p.N199N exonic ENSG00000240038 NA synonymous SNV ENSG00000240038:ENST00000477657:exon5:c.T597C:p.N199N,ENSG00000240038:ENST00000361355:exon6:c.T597C:p.N199N Score=597;Name=lod=357 NA 1p21.1 NA NA NA NA rs1065578 0.05 0.05 0.036 0.0379393 0.1044 NA 0.0504 0.0106 0.0368 0.11 NA 0.06 0.01 0.0754 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608237 NA NA 0.098953 0.028597 NA 0.109 NA 6.3879136 1013 9 135538050 135538050 C T exonic DDX31 NA synonymous SNV DDX31:NM_022779:exon2:c.G423A:p.A141A,DDX31:NM_138620:exon2:c.G423A:p.A141A exonic ENSG00000125485 NA synonymous SNV ENSG00000125485:ENST00000310532:exon2:c.G423A:p.A141A,ENSG00000125485:ENST00000372153:exon2:c.G423A:p.A141A,ENSG00000125485:ENST00000372159:exon2:c.G423A:p.A141A,ENSG00000125485:ENST00000438527:exon2:c.G36A:p.A12A,ENSG00000125485:ENST00000544003:exon3:c.G135A:p.A45A NA NA 9q34.13 NA NA Name=4 NA rs35918594 0.05 0.05 0.042 0.0369409 0.0944 0.003 0.0504 0.0091 0.0409 0.1 0.01 0.06 0.01 0.0788 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68434 NA NA 0.105698 0.019519 NA 0.058 NA 6.3877686 1013 5 52368472 52368472 C T exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon19:c.C2376T:p.D792D exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon19:c.C2376T:p.D792D,ENSG00000164171:ENST00000509814:exon19:c.C2376T:p.D792D,ENSG00000164171:ENST00000510722:exon19:c.C2376T:p.D792D Score=455;Name=lod=94 NA 5q11.2 NA NA NA NA rs3212583 0.11 0.11 0.123 0.111222 0.0885 0.0317 0.0663 0.23 0.0879 0.09 0.03 0.06 0.28 0.0941 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189823 NA NA 0.096395 0.203451 NA 0.109 NA 6.3876716 1013 17 3336260 3336260 A G exonic OR1E2 NA synonymous SNV OR1E2:NM_003554:exon1:c.T876C:p.P292P exonic ENSG00000127780 NA synonymous SNV ENSG00000127780:ENST00000248384:exon1:c.T876C:p.P292P Score=554;Name=lod=239 NA 17p13.2 Score=944;Name=V$AP1FJ_Q2 NA NA NA rs61739591 0.19 0.19 0.175 0.17492 0.4543 0.002 0.2464 0.0643 0.1646 0.4 0.0035 0.24 0.06 0.3397 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023192 NA NA 0.485 0.138675 NA 0.116 NA 6.3876666 1013 1 205819039 205819039 C T exonic PM20D1 NA synonymous SNV PM20D1:NM_152491:exon1:c.G162A:p.A54A exonic ENSG00000162877 NA synonymous SNV ENSG00000162877:ENST00000367136:exon1:c.G162A:p.A54A Score=425;Name=lod=71 NA 1q32.1 NA NA NA NA rs11540016 0.16 0.16 0.162 0.160144 0.0964 0.4246 0.0605 0.053 0.1687 0.1 0.42 0.06 0.05 0.1087 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.560156 1.560156 NA 0.075233 0.060145 NA 0.087 NA 6.3863336 1013 8 27466315 27466315 T C intronic CLU NA NA NA intronic ENSG00000120885 NA NA NA NA Name=Alzheimer's disease (late onset) 8p21.1 NA Name=USF-1,NANOG_(SC-33759),GATA-2,Max,USF1_(SC-8983),TAF1,USF2 Name=33 NA rs1532278 0.72 0.72 0.73 0.736422 0.6143 0.7817 0.6729 0.8419 0.7178 0.61 0.8 0.66 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279443 NA NA NA NA NA 0.674 NA 6.3857 1013 17 20269243 20269243 A G ncRNA_exonic CCDC144CP NA NA NA ncRNA_exonic ENSG00000154898 NA NA NA NA NA 17p11.2 NA NA NA NA rs9892672 NA NA NA 0.113818 0.1203 0.0962 0.1441 0.0953 0.1288 NA NA NA NA 0.1613 NA 0.24 T . . . . . . 1.000 P . . . . -0.927 T 0.108 T . -1.48 0.018 0.918 0.058 3.864 6.211 -1.47951 NA 0.23 NA NA NA NA NA 6.3850666 1014 6 170070723 170070723 A G exonic WDR27 NA nonsynonymous SNV WDR27:NM_182552:exon4:c.T398C:p.L133P exonic ENSG00000184465 NA nonsynonymous SNV ENSG00000184465:ENST00000333572:exon4:c.T398C:p.L133P,ENSG00000184465:ENST00000420344:exon4:c.T398C:p.L133P,ENSG00000184465:ENST00000448612:exon4:c.T398C:p.L133P NA NA 6q27 NA NA NA NA rs4236176 0.52 0.52 0.501 0.53734 0.2922 0.9365 0.5548 0.4803 0.4427 0.3 0.92 0.49 0.41 0.395 0.92 1 T 0.0 B 0.0 B 0.268 N 1.000 P -1.52 N 2.37 T -0.965 T 0.014 T 0.115 -1.175 0.086 0.661 -0.185 0.527 9.842 -1.174843 NA 0.34 0.261257 0.431549 NA 0.413 NA 6.3848764 1014 18 56203411 56203411 G C exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.C4008G:p.P1336P exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.C4008G:p.P1336P NA NA 18q21.32 Score=748;Name=V$SEF1_C Name=TBP,MafK_(ab50322),Pol2-4H8,MafF_(M8194),MafK_(SC-477) Name=8 NA rs3809980 0.7 0.7 0.641 0.671526 0.7674 0.7966 0.6772 0.4667 0.7168 0.78 0.81 0.7 0.43 0.7461 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807245 NA NA 0.768372 0.517022 NA 0.645 NA 6.3847946 1014 8 144992862 144992862 A G exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.T11085C:p.A3695A,PLEC:NM_201379:exon32:c.T11061C:p.A3687A,PLEC:NM_201380:exon32:c.T11538C:p.A3846A,PLEC:NM_201381:exon32:c.T11031C:p.A3677A,PLEC:NM_201382:exon32:c.T11127C:p.A3709A,PLEC:NM_201383:exon32:c.T11139C:p.A3713A,PLEC:NM_201384:exon32:c.T11127C:p.A3709A,PLEC:NM_000445:exon33:c.T11208C:p.A3736A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.T11538C:p.A3846A,ENSG00000178209:ENST00000345136:exon32:c.T11127C:p.A3709A,ENSG00000178209:ENST00000354589:exon32:c.T11127C:p.A3709A,ENSG00000178209:ENST00000354958:exon32:c.T11061C:p.A3687A,ENSG00000178209:ENST00000356346:exon32:c.T11085C:p.A3695A,ENSG00000178209:ENST00000357649:exon32:c.T11139C:p.A3713A,ENSG00000178209:ENST00000398774:exon32:c.T11031C:p.A3677A,ENSG00000178209:ENST00000527096:exon32:c.T11196C:p.A3732A,ENSG00000178209:ENST00000436759:exon33:c.T11208C:p.A3736A Score=477;Name=lod=116 NA 8q24.3 NA NA NA NA rs7819099 0.43 0.43 0.42 0.446086 0.4364 0.1448 0.3703 0.7844 0.363 0.42 0.16 0.38 0.78 0.4055 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470115 NA NA 0.440355 0.733214 ID=COSM454176,COSM454177,COSM1489095;OCCURENCE=1(breast) 0.471 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078837.3;CLNDSDB=.;CLNDSDBID=. 6.3844116 1014 16 2070568 2070568 A C exonic NPW NA nonsynonymous SNV NPW:NM_001099456:exon2:c.A446C:p.D149A exonic ENSG00000183971 NA nonsynonymous SNV ENSG00000183971:ENST00000329610:exon2:c.A446C:p.D149A,ENSG00000183971:ENST00000566435:exon2:c.A290C:p.D97A,ENSG00000183971:ENST00000567649:exon3:c.A361C:p.T121P NA NA 16p13.3 NA NA NA NA rs2286472 0.38 0.38 0.333 0.361422 0.329 0.3313 0.2579 0.6218 0.1472 0.32 0.3 0.29 0.62 0.3041 0.62 0.72 T 0.0 B 0.0 B 0.727 N 1.000 P 0 N 0.59 T -0.927 T 0.000 T 0.043 -1.887 0.008 -0.235 -0.424 -0.827 2.156 -1.886957 NA 0.7 0.316026 0.57586 ID=COSM434810;OCCURENCE=2(breast) 0.406 NA 6.3842074 1014 11 62678306 62678306 G T exonic CHRM1 NA synonymous SNV CHRM1:NM_000738:exon2:c.C267A:p.G89G exonic ENSG00000168539 NA synonymous SNV ENSG00000168539:ENST00000306960:exon2:c.C267A:p.G89G,ENSG00000168539:ENST00000536524:exon2:c.C267A:p.G89G,ENSG00000168539:ENST00000543973:exon3:c.C267A:p.G89G Score=542;Name=lod=212 NA 11q12.3 NA NA NA NA rs2067477 0.09 0.09 0.061 0.0800719 0.0915 0.0843 0.268 0.0113 0.0235 0.09 0.1 0.19 0.02 0.1013 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.660983 1.660983 NA 0.090158 0.021354 NA 0.116 NA 6.3837086 1014 19 40368478 40368478 G A exonic FCGBP NA synonymous SNV FCGBP:NM_003890:exon28:c.C12870T:p.P4290P exonic ENSG00000090920 NA synonymous SNV ENSG00000090920:ENST00000221347:exon28:c.C12870T:p.P4290P Score=346;Name=lod=34 NA 19q13.2 NA NA NA NA rs77170940 NA NA 0.036 NA NA NA NA NA NA NA NA NA NA 0.283 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219562 NA NA NA NA ID=COSM295270;OCCURENCE=1(large_intestine) 0.029 NA 6.3836666 1014 11 62677220 62677220 G A exonic CHRM1 NA synonymous SNV CHRM1:NM_000738:exon2:c.C1353T:p.S451S exonic ENSG00000168539 NA synonymous SNV ENSG00000168539:ENST00000306960:exon2:c.C1353T:p.S451S,ENSG00000168539:ENST00000543973:exon3:c.C1353T:p.S451S NA NA 11q12.3 NA NA Name=2 NA rs2067480 0.09 0.09 0.069 0.0800719 0.0915 0.0843 0.268 0.0113 0.0235 0.09 0.1 0.19 0.02 0.1016 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271286 NA NA 0.090275 0.021581 NA 0.116 NA 6.3832916 1014 3 133327457 133327457 T C exonic TOPBP1 NA synonymous SNV TOPBP1:NM_007027:exon27:c.A4347G:p.S1449S exonic ENSG00000163781 NA synonymous SNV ENSG00000163781:ENST00000260810:exon27:c.A4347G:p.S1449S NA NA 3q22.1 NA NA Name=9 NA rs1051772 0.1 0.1 0.101 0.0930511 0.1044 0.0506 0.0706 0.1694 0.0378 0.1 0.06 0.08 0.14 0.0834 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008118 NA NA 0.095784 0.150541 NA 0.116 NA 6.3830826 1014 19 49658390 49658390 T C exonic HRC NA synonymous SNV HRC:NM_002152:exon1:c.A105G:p.L35L exonic ENSG00000130528 NA synonymous SNV ENSG00000130528:ENST00000252825:exon1:c.A105G:p.L35L,ENSG00000130528:ENST00000595625:exon1:c.A105G:p.L35L NA NA 19q13.33 NA Name=ELF1_(SC-631),CHD2_(N-1250),E2F6_(H-50),TAF1,HMGN3,GABP,c-Myc,ZBTB7A_(SC-34508),HEY1,MafK_(ab50322),TBP,YY1 Name=5 NA rs3745299 0.45 0.45 0.421 0.469249 0.4095 0.2996 0.4827 0.6263 0.4836 0.41 0.3 0.54 0.65 0.4412 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080432 NA NA 0.433953 0.584203 NA 0.428 NA 6.3820136 1014 6 29691140 29691140 C G UTR5 HLA-F NM_001098478:c.-101C>G,NM_001098479:c.-101C>G,NM_018950:c.-101C>G NA NA ncRNA_exonic ENSG00000225864 NA NA NA NA NA 6p22.1 NA Name=TBP,Oct-2,ELF1_(SC-631),NFKB,Pol2-4H8,c-Fos,Pol2,SP1,RFX5_(N-494),YY1,POU2F2,TAF1 Name=135 NA rs2072896 0.19 0.19 0.19 0.23103 0.1193 0.2917 0.1628 0.2632 0.2883 0.12 0.27 0.15 0.24 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597497 NA NA NA NA NA 0.225 NA 6.3807 1014 19 52888048 52888048 G A exonic ZNF880 NA synonymous SNV ZNF880:NM_001145434:exon4:c.G1215A:p.E405E exonic ENSG00000221923 NA synonymous SNV ENSG00000221923:ENST00000422689:exon4:c.G1215A:p.E405E Score=383;Name=lod=48 NA 19q13.41 NA NA NA NA rs324124 0.16 0.16 NA 0.154153 0.1421 0.1468 0.1124 0.2526 0.0706 0.15 0.14 0.1 0.25 0.1441 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19812 NA NA NA NA NA 0.116 NA 6.3804666 1014 11 20673867 20673867 G A exonic SLC6A5 NA synonymous SNV SLC6A5:NM_004211:exon15:c.G2103A:p.E701E exonic ENSG00000165970 NA synonymous SNV ENSG00000165970:ENST00000525748:exon15:c.G2103A:p.E701E Score=584;Name=lod=316 NA 11p15.1 Score=823;Name=V$BRN2_01 NA NA NA rs2276433 0.49 0.49 0.475 0.478235 0.4414 0.8234 0.5562 0.1543 0.5429 0.44 0.8 0.51 0.19 0.4506 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.16339 NA NA 0.394767 0.185202 NA 0.391 NA 6.3798996 1014 6 134493947 134493947 A G intronic SGK1 NA NA NA intronic ENSG00000118515 NA NA NA Score=259;Name=lod=15 NA 6q23.2 NA Name=p300 Name=43 NA rs1743966 0.24 0.24 0.241 0.232428 0.1958 0.2609 0.2406 0.329 0.1043 0.2 0.21 0.2 0.39 0.2174 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033012 NA NA 0.206977 0.287108 NA 0.29 NA 6.379823 1014 3 167510472 167510472 G A exonic SERPINI1 NA synonymous SNV SERPINI1:NM_001122752:exon4:c.G576A:p.S192S,SERPINI1:NM_005025:exon4:c.G576A:p.S192S exonic ENSG00000163536 NA synonymous SNV ENSG00000163536:ENST00000295777:exon4:c.G576A:p.S192S,ENSG00000163536:ENST00000446050:exon4:c.G576A:p.S192S,ENSG00000163536:ENST00000472747:exon4:c.G576A:p.S192S Score=696;Name=lod=896 NA 3q26.1 NA NA NA NA rs2229697 0.11 0.11 0.111 0.115016 0.1004 0.0526 0.1542 0.2073 0.0419 0.1 0.06 0.12 0.2 0.0985 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85727 NA NA 0.08814 0.198593 NA 0.116 NA 6.3796266 1014 1 35900615 35900615 A G exonic KIAA0319L NA synonymous SNV KIAA0319L:NM_024874:exon21:c.T3030C:p.D1010D exonic ENSG00000142687 NA synonymous SNV ENSG00000142687:ENST00000373266:exon12:c.T1341C:p.D447D,ENSG00000142687:ENST00000325722:exon21:c.T3030C:p.D1010D,ENSG00000142687:ENST00000426982:exon21:c.T3030C:p.D1010D NA NA 1p34.3 NA NA Name=2 NA rs3814302 0.44 0.44 0.44 0.453674 0.0497 0.7679 0.3674 0.7239 0.2413 0.04 0.8 0.33 0.73 0.2044 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671129 NA NA 0.03314 0.597821 NA 0.319 NA 6.3794266 1014 9 140392616 140392616 G A exonic PNPLA7 NA synonymous SNV PNPLA7:NM_152286:exon16:c.C1764T:p.I588I,PNPLA7:NM_001098537:exon17:c.C1839T:p.I613I exonic ENSG00000130653 NA synonymous SNV ENSG00000130653:ENST00000371457:exon6:c.C582T:p.I194I,ENSG00000130653:ENST00000277531:exon16:c.C1764T:p.I588I,ENSG00000130653:ENST00000434090:exon16:c.C1737T:p.I579I,ENSG00000130653:ENST00000406427:exon17:c.C1839T:p.I613I Score=485;Name=lod=125 NA 9q34.3 NA NA NA NA rs61754920 0.18 0.18 0.191 0.191693 0.0795 0.2341 0.0807 0.3502 0.1278 0.08 0.22 0.07 0.35 0.1225 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.708476 1.708476 NA 0.085718 0.325761 ID=COSM150748;OCCURENCE=1(stomach) 0.254 NA 6.3789486 1014 19 17886940 17886940 G A exonic FCHO1 NA synonymous SNV FCHO1:NM_001161359:exon14:c.G1002A:p.A334A,FCHO1:NM_001161358:exon15:c.G1152A:p.A384A,FCHO1:NM_001161357:exon16:c.G1152A:p.A384A,FCHO1:NM_015122:exon16:c.G1152A:p.A384A exonic ENSG00000130475 NA synonymous SNV ENSG00000130475:ENST00000597512:exon12:c.G1173A:p.A391A,ENSG00000130475:ENST00000252771:exon14:c.G1152A:p.A384A,ENSG00000130475:ENST00000389133:exon14:c.G1152A:p.A384A,ENSG00000130475:ENST00000595033:exon14:c.G1002A:p.A334A,ENSG00000130475:ENST00000596951:exon14:c.G1152A:p.A384A,ENSG00000130475:ENST00000539407:exon15:c.G1152A:p.A384A,ENSG00000130475:ENST00000600676:exon15:c.G1152A:p.A384A,ENSG00000130475:ENST00000594202:exon16:c.G1152A:p.A384A,ENSG00000130475:ENST00000596536:exon16:c.G1152A:p.A384A NA NA 19p13.11 Score=810;Name=V$AP4_01 Name=EBF,EBF1_(C-8) NA NA rs2287854 0.57 0.57 0.566 0.573882 0.4006 0.7778 0.536 0.5696 0.5746 0.41 0.81 0.52 0.59 0.4783 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843765 NA NA 0.409302 0.549932 NA 0.551 NA 6.3784646 1014 10 88768253 88768253 A G exonic AGAP11 NA nonsynonymous SNV AGAP11:NM_133447:exon12:c.A244G:p.I82V ncRNA_exonic ENSG00000151303,ENSG00000261011,ENSG00000271880 NA NA NA Score=669;Name=lod=698 NA 10q23.2 NA Name=c-Myc,ERalpha_a,FOXA1_(C-20) Name=8 NA rs2641563 0.8 0.8 0.791 0.791134 0.7048 0.9325 0.7522 0.8585 0.6708 0.7 0.93 0.72 0.86 0.7313 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515727 NA NA 0.685565 0.833333 NA 0.283 NA 6.378335 1014 19 1056065 1056065 A G exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon32:c.A4239G:p.R1413R exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon26:c.A3825G:p.R1275R,ENSG00000064687:ENST00000433129:exon31:c.A4239G:p.R1413R,ENSG00000064687:ENST00000263094:exon32:c.A4239G:p.R1413R Score=410;Name=lod=62 NA 19p13.3 Score=964;Name=V$LMO2COM_02 NA NA NA rs881768 0.44 0.44 0.429 0.442093 0.4195 0.3552 0.4265 0.5393 0.4346 0.44 0.38 0.44 0.5 0.4451 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763665 NA NA 0.424715 0.527033 NA 0.326 NA 6.3773516 1014 2 233322958 233322958 T C exonic ALPI NA synonymous SNV ALPI:NM_001631:exon9:c.T1023C:p.G341G exonic ENSG00000163295 NA synonymous SNV ENSG00000163295:ENST00000295463:exon9:c.T1023C:p.G341G NA NA 2q37.1 NA Name=ERalpha_a NA NA rs41265121 0.1 0.1 0.089 0.0978435 0.1093 0.1012 0.0764 0.1089 0.0828 0.11 0.09 0.08 0.1 0.0946 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111922 NA NA 0.086047 0.1069 NA 0.101 NA 6.3767196 1014 12 42854205 42854205 A G exonic PRICKLE1 NA synonymous SNV PRICKLE1:NM_001144881:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144882:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144883:exon8:c.T1902C:p.S634S,PRICKLE1:NM_153026:exon8:c.T1902C:p.S634S exonic ENSG00000139174 NA synonymous SNV ENSG00000139174:ENST00000345127:exon8:c.T1902C:p.S634S,ENSG00000139174:ENST00000445766:exon8:c.T1902C:p.S634S,ENSG00000139174:ENST00000455697:exon8:c.T1902C:p.S634S,ENSG00000139174:ENST00000548696:exon8:c.T1902C:p.S634S,ENSG00000139174:ENST00000552240:exon8:c.T1902C:p.S634S NA NA 12q12 NA Name=JunD NA NA rs3747562 0.46 0.46 0.425 0.429313 0.4284 0.4137 0.4841 0.472 0.3497 0.42 0.44 0.5 0.49 0.4385 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384777 NA NA 0.423256 0.458693 NA 0.493 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082658.3;CLNDSDB=.;CLNDSDBID=. 6.3765106 1014 19 2389872 2389872 G C exonic TMPRSS9 NA nonsynonymous SNV TMPRSS9:NM_182973:exon1:c.G89C:p.S30T exonic ENSG00000178297 NA nonsynonymous SNV ENSG00000178297:ENST00000332578:exon1:c.G89C:p.S30T NA NA 19p13.3 NA NA NA NA rs891174 0.58 0.58 0.579 0.583466 0.666 0.4474 0.4352 0.6536 0.6493 0.66 0.44 0.5 0.67 0.6218 0.67 0.37 T 0.0 B 0.0 B 0.999 N 1.000 P 0 N -2.23 D -0.945 T 0.000 T 0.042 0.904 8.676 1.09 -0.342 0.436 4.121 0.903904 NA 0.09 0.669419 0.609396 NA 0.471 NA 6.3761144 1014 4 113352628 113352628 A G exonic ALPK1 NA nonsynonymous SNV ALPK1:NM_001253884:exon10:c.A1691G:p.H564R,ALPK1:NM_001102406:exon11:c.A1925G:p.H642R,ALPK1:NM_025144:exon11:c.A1925G:p.H642R exonic ENSG00000073331 NA nonsynonymous SNV ENSG00000073331:ENST00000504176:exon10:c.A1691G:p.H564R,ENSG00000073331:ENST00000177648:exon11:c.A1925G:p.H642R,ENSG00000073331:ENST00000458497:exon11:c.A1925G:p.H642R NA NA 4q25 NA NA NA NA rs13148353 0.67 0.67 0.682 0.658546 0.6511 0.7014 0.5807 0.7481 0.5562 0.65 0.73 0.58 0.72 0.6495 0.73 0.44 T 0.0 B 0.0 B 0.008 N 1.000 P 0 N 4.41 T -1.094 T 0.000 T 0.016 0.881 8.574 2.53 -0.030 0.246 3.992 0.880768 NA 0.58 0.657093 0.725374 NA 0.623 NA 6.3756404 1014 4 113353285 113353285 T C exonic ALPK1 NA nonsynonymous SNV ALPK1:NM_001253884:exon10:c.T2348C:p.M783T,ALPK1:NM_001102406:exon11:c.T2582C:p.M861T,ALPK1:NM_025144:exon11:c.T2582C:p.M861T exonic ENSG00000073331 NA nonsynonymous SNV ENSG00000073331:ENST00000504176:exon10:c.T2348C:p.M783T,ENSG00000073331:ENST00000177648:exon11:c.T2582C:p.M861T,ENSG00000073331:ENST00000458497:exon11:c.T2582C:p.M861T NA NA 4q25 NA NA NA NA rs11726117 0.67 0.67 0.697 0.658546 0.6501 0.7014 0.5807 0.7481 0.5573 0.65 0.73 0.58 0.72 0.6497 0.73 1 T 0.0 B 0.0 B 0.139 N 1.000 P -1.78 N 4.45 T -1.047 T 0.000 T 0.037 -1.767 0.01 1.74 0.136 -1.408 4.870 -1.766884 NA 0.59 0.657907 0.725148 NA 0.623 NA 6.3756264 1014 21 45479055 45479055 C T exonic TRAPPC10 NA synonymous SNV TRAPPC10:NM_003274:exon6:c.C750T:p.D250D exonic ENSG00000160218 NA synonymous SNV ENSG00000160218:ENST00000291574:exon6:c.C750T:p.D250D,ENSG00000160218:ENST00000380221:exon6:c.C750T:p.D250D,ENSG00000160218:ENST00000422875:exon6:c.C750T:p.D250D Score=617;Name=lod=428 NA 21q22.3 NA NA NA NA rs2838475 0.07 0.07 0.057 0.0549121 0.1093 0.0506 0.0576 0.0129 0.0583 0.11 0.05 0.07 0.01 0.0771 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.449379 1.449379 NA 0.105233 0.025647 NA 0.058 NA 6.3750336 1015 8 145741765 145741765 G A exonic RECQL4 NA synonymous SNV RECQL4:NM_004260:exon5:c.C738T:p.S246S exonic ENSG00000160957 NA synonymous SNV ENSG00000160957:ENST00000428558:exon5:c.C738T:p.S246S NA NA 8q24.3 NA Name=NRSF NA NA rs4244613 0.36 0.36 0.311 0.370008 0.4254 0.4831 0.4568 0.0885 0.5153 0.43 0.42 0.49 0.08 0.4394 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303791 NA NA 0.427011 0.157043 NA 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080898.1;CLNDSDB=.;CLNDSDBID=. 6.3748556 1015 2 37230728 37230728 T C exonic HEATR5B NA synonymous SNV HEATR5B:NM_019024:exon31:c.A5007G:p.V1669V exonic ENSG00000008869 NA synonymous SNV ENSG00000008869:ENST00000233099:exon31:c.A5007G:p.V1669V,ENSG00000008869:ENST00000354531:exon31:c.A5007G:p.V1669V Score=595;Name=lod=348 NA 2p22.2 NA NA NA NA rs1007823 0.19 0.19 0.178 0.180511 0.0855 0.5278 0.1614 0.0061 0.1697 0.09 0.53 0.13 0.0041 0.13 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253372 1.253372 NA 0.077093 0.020881 ID=COSM148839;OCCURENCE=1(stomach) 0.138 NA 6.3740736 1015 16 70546234 70546234 G A exonic COG4 NA synonymous SNV COG4:NM_001195139:exon5:c.C646T:p.L216L,COG4:NM_015386:exon5:c.C646T:p.L216L exonic ENSG00000103051 NA synonymous SNV ENSG00000103051:ENST00000323786:exon5:c.C646T:p.L216L,ENSG00000103051:ENST00000393612:exon5:c.C634T:p.L212L,ENSG00000103051:ENST00000482252:exon5:c.C634T:p.L212L,ENSG00000103051:ENST00000534772:exon5:c.C415T:p.L139L,ENSG00000103051:ENST00000564653:exon5:c.C519T:p.I173I Score=599;Name=lod=364 NA 16q22.1 NA NA NA NA rs3762171 0.44 0.44 0.427 0.470248 0.4175 0.5813 0.415 0.2859 0.6984 0.41 0.59 0.43 0.34 0.4511 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134846 NA NA 0.424302 0.298681 NA 0.507 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081733.3;CLNDSDB=.;CLNDSDBID=. 6.3737646 1015 7 116436097 116436097 G A exonic MET NA synonymous SNV MET:NM_000245:exon21:c.G4092A:p.P1364P,MET:NM_001127500:exon21:c.G4146A:p.P1382P exonic ENSG00000105976 NA synonymous SNV ENSG00000105976:ENST00000539704:exon7:c.G702A:p.P234P,ENSG00000105976:ENST00000318493:exon21:c.G4146A:p.P1382P,ENSG00000105976:ENST00000397752:exon21:c.G4092A:p.P1364P Score=459;Name=lod=98 NA 7q31.2 NA NA NA NA rs41737 0.38 0.38 0.354 0.354633 0.4433 0.4673 0.4726 0.0356 0.4949 0.44 0.53 0.43 0.05 0.4248 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488647 1.488647 NA 0.425179 0.10398 ID=COSM150379;OCCURENCE=1(stomach) 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079494.1;CLNDSDB=.;CLNDSDBID=. 6.3733876 1015 1 5926507 5926507 T C exonic NPHP4 NA synonymous SNV NPHP4:NM_015102:exon26:c.A3570G:p.E1190E exonic ENSG00000131697 NA synonymous SNV ENSG00000131697:ENST00000378156:exon26:c.A3570G:p.E1190E Score=371;Name=lod=43 NA 1p36.31 NA NA NA NA rs555164 0.32 0.32 0.257 0.319688 0.4135 0.2837 0.379 0.1619 0.4315 0.41 0.28 0.41 0.17 0.4604 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759752 NA NA 0.419699 0.19845 ID=COSM1126976;OCCURENCE=1(prostate) 0.341 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081716.1;CLNDSDB=.;CLNDSDBID=. 6.3730676 1015 17 43175906 43175906 C T exonic NMT1 NA synonymous SNV NMT1:NM_021079:exon7:c.C870T:p.P290P exonic ENSG00000136448 NA synonymous SNV ENSG00000136448:ENST00000258960:exon7:c.C870T:p.P290P,ENSG00000136448:ENST00000592782:exon8:c.C870T:p.P290P Score=538;Name=lod=204 NA 17q21.31 NA NA NA NA rs2239922 0.16 0.16 0.167 0.170727 0.0845 0.2669 0.2003 0.1717 0.138 0.09 0.25 0.19 0.15 0.1255 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177098 NA NA 0.083953 0.160917 NA 0.138 NA 6.3727136 1015 7 35225518 35225518 C A ncRNA_exonic DPY19L2P1 NA NA NA ncRNA_exonic ENSG00000189212 NA NA NA NA NA 7p14.2 Score=816;Name=V$CMYB_01 Name=CTCF,Rad21,ZNF263 NA NA rs10262841 0.22 0.22 0.182 0.199681 0.2942 0.1855 0.2421 0.1089 0.2096 0.29 0.19 0.24 0.16 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.038056 NA NA NA NA NA 0.268 NA 6.3724666 1015 19 5210762 5210762 G A exonic PTPRS NA synonymous SNV PTPRS:NM_130853:exon25:c.C3948T:p.D1316D,PTPRS:NM_130855:exon26:c.C3960T:p.D1320D,PTPRS:NM_130854:exon29:c.C5175T:p.D1725D,PTPRS:NM_002850:exon34:c.C5289T:p.D1763D exonic ENSG00000105426 NA synonymous SNV ENSG00000105426:ENST00000592099:exon24:c.C3948T:p.D1316D,ENSG00000105426:ENST00000353284:exon25:c.C3948T:p.D1316D,ENSG00000105426:ENST00000588012:exon28:c.C5175T:p.D1725D,ENSG00000105426:ENST00000348075:exon29:c.C5175T:p.D1725D,ENSG00000105426:ENST00000262963:exon30:c.C5229T:p.D1743D,ENSG00000105426:ENST00000587303:exon33:c.C5289T:p.D1763D,ENSG00000105426:ENST00000357368:exon34:c.C5289T:p.D1763D,ENSG00000105426:ENST00000372412:exon34:c.C5292T:p.D1764D Score=597;Name=lod=357 NA 19p13.3 NA NA NA NA rs1143699 0.09 0.09 0.104 0.100639 0.0994 NA 0.0807 0.2216 0.0562 0.09 NA 0.06 0.23 0.0931 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668603 NA NA 0.101744 0.185883 NA 0.065 NA 6.3724226 1015 6 31379109 31379109 G A exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon3:c.G586A:p.E196K,MICA:NM_001177519:exon3:c.G586A:p.E196K exonic ENSG00000204520 NA nonsynonymous SNV ENSG00000204520:ENST00000449934:exon3:c.G586A:p.E196K NA NA 6p21.33 NA NA NA NA rs1051794 0.37 0.37 0.315 0.364617 0.3141 0.2996 0.4049 0.4796 0.2996 0.32 0.28 0.47 0.46 0.358 0.47 0.25 T 0.005 B 0.03 B 0.013 N 1.000 P . . 5.6 T -0.914 T 0.001 T 0.078 0.074 4.401 -0.805 -0.322 -0.226 2.981 0.074063 NA 0.34 0.288812 0.419075 NA 0.341 NA 6.3724214 1015 15 42145049 42145049 C T exonic SPTBN5 NA synonymous SNV SPTBN5:NM_016642:exon60:c.G10320A:p.E3440E exonic ENSG00000137877 NA synonymous SNV ENSG00000137877:ENST00000320955:exon60:c.G10320A:p.E3440E Score=329;Name=lod=29 NA 15q15.1 NA NA NA NA rs55978013 0.05 0.05 0.047 0.0656949 0.0964 0.0159 0.1153 0.0061 0.1309 0.09 0.01 0.11 0.01 0.0996 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683501 NA NA 0.09838 0.022188 NA 0.087 NA 6.3722866 1015 3 180325487 180325487 T C exonic TTC14 NA synonymous SNV TTC14:NM_001042601:exon10:c.T1224C:p.A408A,TTC14:NM_133462:exon10:c.T1224C:p.A408A exonic ENSG00000163728 NA synonymous SNV ENSG00000163728:ENST00000296015:exon10:c.T1224C:p.A408A,ENSG00000163728:ENST00000382584:exon10:c.T1224C:p.A408A,ENSG00000163728:ENST00000412756:exon10:c.T1224C:p.A408A,ENSG00000163728:ENST00000470669:exon10:c.T1224C:p.A408A Score=663;Name=lod=657 NA 3q26.33 NA NA NA NA rs9858483 0.08 0.08 0.06 0.0696885 0.1044 NA 0.1167 0.0787 0.0603 0.12 NA 0.1 0.08 0.0932 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148856 NA NA 0.09697 0.069741 NA 0.051 NA 6.3720966 1015 17 7592560 7592560 C T exonic WRAP53 NA synonymous SNV WRAP53:NM_018081:exon2:c.C450T:p.F150F,WRAP53:NM_001143990:exon3:c.C450T:p.F150F,WRAP53:NM_001143991:exon3:c.C450T:p.F150F,WRAP53:NM_001143992:exon3:c.C450T:p.F150F exonic ENSG00000141499 NA synonymous SNV ENSG00000141499:ENST00000316024:exon2:c.C450T:p.F150F,ENSG00000141499:ENST00000396463:exon3:c.C450T:p.F150F,ENSG00000141499:ENST00000431639:exon3:c.C450T:p.F150F,ENSG00000141499:ENST00000457584:exon3:c.C450T:p.F150F,ENSG00000141499:ENST00000498311:exon3:c.C450T:p.F150F Score=340;Name=lod=32 NA 17p13.1 NA NA NA NA rs2287498 0.18 0.18 0.193 0.222244 0.0875 0.2996 0.17 0.2905 0.226 0.09 0.26 0.12 0.29 0.1331 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022605 NA NA 0.074302 0.240354 ID=COSM148182;OCCURENCE=1(stomach) 0.138 NA 6.3717646 1015 14 100996312 100996312 T C exonic WDR25 NA synonymous SNV WDR25:NM_001161476:exon7:c.T1569C:p.Y523Y,WDR25:NM_024515:exon7:c.T1569C:p.Y523Y exonic ENSG00000176473 NA synonymous SNV ENSG00000176473:ENST00000542471:exon6:c.T798C:p.Y266Y,ENSG00000176473:ENST00000335290:exon7:c.T1569C:p.Y523Y,ENSG00000176473:ENST00000402312:exon7:c.T1569C:p.Y523Y,ENSG00000176473:ENST00000554998:exon7:c.T1569C:p.Y523Y Score=371;Name=lod=43 NA 14q32.2 Score=857;Name=V$GATA1_03 NA NA NA rs13065 0.65 0.65 0.656 0.641374 0.4155 0.6974 0.611 0.9705 0.3926 0.42 0.71 0.62 0.96 0.4878 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434465 NA NA 0.391628 0.879029 ID=COSM432668;OCCURENCE=1(breast) 0.594 NA 6.3717386 1015 15 101093955 101093955 A G ncRNA_exonic PRKXP1 NA NA NA ncRNA_exonic ENSG00000259205 NA NA NA Score=624;Name=lod=456 NA 15q26.3 NA NA Name=4 NA rs62037118 0.25 0.25 0.216 0.26258 0.2952 0.0704 0.2017 0.4168 0.2618 0.28 0.08 0.23 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019533 NA NA NA NA NA 0.326 NA 6.3714666 1015 4 122254014 122254014 A G exonic QRFPR NA synonymous SNV QRFPR:NM_198179:exon4:c.T759C:p.L253L exonic ENSG00000186867 NA synonymous SNV ENSG00000186867:ENST00000394427:exon4:c.T759C:p.L253L Score=536;Name=lod=201 NA 4q27 NA NA NA NA rs55975435 0.09 0.09 0.08 0.0954473 0.1044 0.1151 0.0749 0.1021 0.0716 0.11 0.09 0.06 0.08 0.0895 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861827 NA NA 0.101744 0.081934 NA 0.051 NA 6.3710226 1015 6 31322559 31322559 G A intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA Name=Beta-2 microglubulin plasma levels,HIV-1 control 6p21.33 NA Name=Pol2-4H8 Name=4 NA rs2523608 0.58 0.58 0.585 0.602835 0.6292 0.3909 0.6196 0.7005 0.6503 0.59 0.45 0.62 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214464 NA NA NA NA NA 0.609 NA 6.3708 1015 8 81213670 81213670 G T intergenic MIR5708,ZBTB10 dist=59962;dist=184184 NA NA ncRNA_exonic ENSG00000213791 NA NA NA Score=768;Name=lod=1759 NA 8q21.13 NA Name=STAT3 Name=73 NA rs7842724 0.65 0.65 0.652 0.654752 0.6292 0.6032 0.6052 0.8071 0.5634 0.62 0.59 0.59 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061762 NA NA NA NA NA 0.681 NA 6.3708 1015 2 128757995 128757995 A C exonic SAP130 NA synonymous SNV SAP130:NM_001145928:exon8:c.T981G:p.S327S,SAP130:NM_024545:exon8:c.T981G:p.S327S exonic ENSG00000136715 NA synonymous SNV ENSG00000136715:ENST00000259234:exon8:c.T903G:p.S301S,ENSG00000136715:ENST00000259235:exon8:c.T981G:p.S327S,ENSG00000136715:ENST00000357702:exon8:c.T981G:p.S327S Score=601;Name=lod=370 NA 2q14.3 NA NA NA NA rs17015864 0.09 0.09 0.071 0.109625 0.0895 0.1379 0.111 0.0053 0.2413 0.09 0.13 0.09 0.01 0.1072 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284324 1.284324 NA 0.099302 0.022015 NA 0.13 NA 6.3706646 1015 1 44451234 44451234 C T exonic B4GALT2 NA synonymous SNV B4GALT2:NM_001005417:exon6:c.C909T:p.I303I,B4GALT2:NM_003780:exon6:c.C909T:p.I303I,B4GALT2:NM_030587:exon6:c.C996T:p.I332I exonic ENSG00000117411 NA synonymous SNV ENSG00000117411:ENST00000309519:exon6:c.C996T:p.I332I,ENSG00000117411:ENST00000356836:exon6:c.C909T:p.I303I,ENSG00000117411:ENST00000372324:exon6:c.C909T:p.I303I,ENSG00000117411:ENST00000434555:exon6:c.C711T:p.I237I Score=643;Name=lod=549 NA 1p34.1 NA NA NA NA rs1061781 0.1 0.1 0.092 0.0934505 0.1004 0.1528 0.0778 0.0477 0.0982 0.1 0.14 0.08 0.06 0.0935 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.248112 1.248112 NA 0.102326 0.063096 ID=COSM146491;OCCURENCE=1(stomach) 0.087 NA 6.3704406 1015 7 99500899 99500899 T C exonic TRIM4 NA synonymous SNV TRIM4:NM_033091:exon5:c.A783G:p.V261V,TRIM4:NM_033017:exon6:c.A861G:p.V287V exonic ENSG00000146833 NA synonymous SNV ENSG00000146833:ENST00000349062:exon5:c.A783G:p.V261V,ENSG00000146833:ENST00000354241:exon5:c.A783G:p.V261V,ENSG00000146833:ENST00000355947:exon6:c.A861G:p.V287V NA NA 7q22.1 NA NA NA NA rs2247762 0.31 0.31 0.293 0.321885 0.4235 0.2937 0.3357 0.1498 0.4693 0.44 0.27 0.37 0.14 0.4121 0.46 . . . . . . . . 1.000 P . . . . -0.910 T 0.000 T . -1.375 0.026 -0.222 -0.051 -2.459 4.229 -1.374714 NA NA 0.46093 0.211984 NA 0.261 NA 6.3701366 1015 2 232320581 232320581 T G ncRNA_exonic SNORA75 NA NA NA ncRNA_exonic ENSG00000206885 NA NA NA NA NA 2q37.1 NA Name=Pol2-4H8 Name=4 NA rs13019380 0.07 0.07 0.06 0.0607029 0.1044 0.0883 0.0692 0.0045 0.0573 0.1 0.1 0.08 0.0041 0.0861 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.332609 3.332609 NA 0.106479 0.018836 NA 0.022 NA 6.3696876 1015 7 57188718 57188718 T C exonic ZNF479 NA nonsynonymous SNV ZNF479:NM_033273:exon5:c.A404G:p.Y135C exonic ENSG00000185177 NA nonsynonymous SNV ENSG00000185177:ENST00000331162:exon5:c.A404G:p.Y135C NA NA 7p11.2 NA NA NA NA rs2191989 0.33 0.33 0.265 0.327676 0.2913 0.5427 0.379 0.115 0.3947 0.3 0.59 0.32 0.09 0.3388 0.59 1 T 0.0 B 0.0 B . . 1.000 P -1.905 N 3.3 T -0.953 T 0.000 T 0.042 -2.671 0 -1.1 -0.649 -0.701 0.203 -2.671338 NA 1 0.333616 0.147138 NA 0.036 NA 6.3696174 1015 X 102864568 102864568 G A exonic TCEAL3 NA synonymous SNV TCEAL3:NM_001006933:exon3:c.G576A:p.R192R,TCEAL3:NM_032926:exon3:c.G576A:p.R192R exonic ENSG00000196507 NA synonymous SNV ENSG00000196507:ENST00000243286:exon3:c.G576A:p.R192R,ENSG00000196507:ENST00000372627:exon3:c.G576A:p.R192R,ENSG00000196507:ENST00000372628:exon3:c.G576A:p.R192R Score=355;Name=lod=37 NA Xq22.2 NA NA NA NA rs75427253 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2982 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957237 NA NA NA NA NA NA NA 6.3684666 1015 X 102864565 102864565 G A exonic TCEAL3 NA synonymous SNV TCEAL3:NM_001006933:exon3:c.G573A:p.Q191Q,TCEAL3:NM_032926:exon3:c.G573A:p.Q191Q exonic ENSG00000196507 NA synonymous SNV ENSG00000196507:ENST00000243286:exon3:c.G573A:p.Q191Q,ENSG00000196507:ENST00000372627:exon3:c.G573A:p.Q191Q,ENSG00000196507:ENST00000372628:exon3:c.G573A:p.Q191Q Score=355;Name=lod=37 NA Xq22.2 NA NA NA NA rs74490974 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2984 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663647 NA NA NA NA NA NA NA 6.3682666 1015 3 123444785 123444785 A T intronic MYLK NA NA NA intronic ENSG00000065534 NA NA NA Score=446;Name=lod=87 NA 3q21.1 NA Name=CTCF Name=9 NA rs820329 0.12 0.12 0.089 0.0922524 0.2346 0.0069 0.1441 0.0401 0.0675 0.22 0.0017 0.18 0.04 0.1666 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.566266 NA NA 0.230698 0.064231 NA 0.138 NA 6.368102 1015 2 159954175 159954175 C T exonic TANC1 NA nonsynonymous SNV TANC1:NM_001145909:exon4:c.C88T:p.P30S,TANC1:NM_033394:exon4:c.C88T:p.P30S exonic ENSG00000115183 NA nonsynonymous SNV ENSG00000115183:ENST00000263635:exon4:c.C88T:p.P30S,ENSG00000115183:ENST00000454300:exon4:c.C88T:p.P30S NA NA 2q24.2 NA NA NA NA rs34588551 0.18 0.18 0.157 0.136382 0.3469 0.003 0.2493 0.0295 0.1217 0.33 0.0017 0.31 0.04 0.2578 0.36 0.32 T 0.004 B 0.015 B 0.223 N 1.000 P 0 N -0.32 T -0.989 T 0.000 T 0.025 0.57 7.078 0.726 0.127 0.420 2.285 0.569622 NA 0.58 0.360602 0.078626 NA 0.261 NA 6.3680314 1015 1 44595113 44595113 G C exonic KLF17 NA nonsynonymous SNV KLF17:NM_173484:exon2:c.G170C:p.S57T exonic ENSG00000171872 NA nonsynonymous SNV ENSG00000171872:ENST00000372299:exon2:c.G170C:p.S57T NA NA 1p34.1 NA NA NA NA rs2429051 0.55 0.55 0.514 0.496406 0.6928 0.628 0.5159 0.2231 0.5143 0.68 0.66 0.54 0.23 0.6088 0.68 0.4 T 0.183 B 0.053 B 0.653 N 1.000 P 0.345 N 2.95 T -0.990 T 0.000 T 0.034 1.501 10.97 -3.88 -0.722 -0.374 1.663 1.500537 1.500537 1 0.663953 0.297549 NA 0.457 NA 6.3677804 1015 10 121436068 121436068 T G exonic BAG3 NA synonymous SNV BAG3:NM_004281:exon4:c.T1002G:p.P334P exonic ENSG00000151929 NA synonymous SNV ENSG00000151929:ENST00000369085:exon4:c.T1002G:p.P334P,ENSG00000151929:ENST00000450186:exon5:c.T825G:p.P275P NA NA 10q26.11 NA NA NA NA rs3858339 0.16 0.16 0.14 0.155751 0.0964 0.254 0.1744 0.1664 0.0879 0.09 0.25 0.13 0.16 0.1144 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549583 NA NA 0.08814 0.170676 NA 0.152 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000037883.2|RCV000123815.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.3677266 1015 16 720152 720152 T C exonic RHOT2 NA synonymous SNV RHOT2:NM_138769:exon6:c.T306C:p.N102N exonic ENSG00000140983 NA synonymous SNV ENSG00000140983:ENST00000561929:exon5:c.T243C:p.N81N,ENSG00000140983:ENST00000315082:exon6:c.T306C:p.N102N,ENSG00000140983:ENST00000561983:exon6:c.T306C:p.N102N,ENSG00000140983:ENST00000562333:exon6:c.T306C:p.N102N,ENSG00000140983:ENST00000563134:exon6:c.T306C:p.N102N Score=426;Name=lod=72 NA 16p13.3 NA NA NA NA rs3752487 0.17 0.17 0.138 0.177117 0.0795 0.2887 0.1484 0.2307 0.1104 0.07 0.29 0.1 0.23 0.1287 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443185 NA NA 0.091205 0.206645 NA 0.109 NA 6.3672616 1015 14 95081081 95081081 A G exonic SERPINA3 NA synonymous SNV SERPINA3:NM_001085:exon2:c.A303G:p.K101K exonic ENSG00000196136 NA synonymous SNV ENSG00000196136:ENST00000393078:exon2:c.A303G:p.K101K,ENSG00000196136:ENST00000393080:exon2:c.A303G:p.K101K,ENSG00000196136:ENST00000467132:exon2:c.A303G:p.K101K,ENSG00000196136:ENST00000556968:exon2:c.A303G:p.K101K,ENSG00000196136:ENST00000553947:exon5:c.A378G:p.K126K NA NA 14q32.13 Score=842;Name=V$COUP_01 NA NA NA rs17826465 0.05 0.05 0.035 0.0447284 0.1064 0.004 0.0648 0.0068 0.0603 0.1 0.0035 0.07 0.01 0.0819 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781785 NA NA 0.111512 0.025193 NA 0.007 NA 6.3668546 1015 19 36590329 36590329 T C exonic WDR62 NA nonsynonymous SNV WDR62:NM_001083961:exon22:c.T2549C:p.L850S,WDR62:NM_173636:exon22:c.T2549C:p.L850S exonic ENSG00000075702 NA nonsynonymous SNV ENSG00000075702:ENST00000270301:exon22:c.T2549C:p.L850S,ENSG00000075702:ENST00000401500:exon22:c.T2549C:p.L850S NA NA 19q13.12 NA NA NA NA rs2285745 0.68 0.68 0.688 0.654153 0.675 0.6101 0.7061 0.7557 0.5041 0.68 0.62 0.68 0.76 0.6426 0.76 0.79 T 0.0 B 0.0 B 0.948 N 1.000 P -1.445 N 0.86 T -0.952 T 0.000 T 0.014 -0.893 0.452 4.25 0.610 0.702 7.517 -0.893325 NA 1 0.649302 0.720608 NA 0.601 NA 6.3664314 1015 6 29581041 29581041 A G exonic GABBR1 NA synonymous SNV GABBR1:NM_021903:exon7:c.T1194C:p.S398S,GABBR1:NM_021904:exon11:c.T1359C:p.S453S,GABBR1:NM_001470:exon12:c.T1545C:p.S515S exonic ENSG00000204681 NA synonymous SNV ENSG00000204681:ENST00000355973:exon7:c.T1194C:p.S398S,ENSG00000204681:ENST00000377012:exon7:c.T1194C:p.S398S,ENSG00000204681:ENST00000377016:exon11:c.T1359C:p.S453S,ENSG00000204681:ENST00000494877:exon11:c.T1545C:p.S515S,ENSG00000204681:ENST00000376977:exon12:c.T1545C:p.S515S,ENSG00000204681:ENST00000377034:exon12:c.T1545C:p.S515S Score=515;Name=lod=165 NA 6p22.1 NA NA NA NA rs29225 0.09 0.09 0.069 0.105631 0.0974 0.12 0.0807 0.0946 0.1319 0.08 0.12 0.08 0.09 0.0996 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.257555 1.257555 NA 0.103544 0.090397 NA 0.123 NA 6.3661226 1015 9 139911983 139911983 T G exonic ABCA2 NA synonymous SNV ABCA2:NM_001606:exon17:c.A2373C:p.A791A,ABCA2:NM_212533:exon17:c.A2463C:p.A821A exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000488535:exon4:c.A414C:p.A138A,ENSG00000107331:ENST00000371605:exon16:c.A2370C:p.A790A,ENSG00000107331:ENST00000459850:exon16:c.A2460C:p.A820A,ENSG00000107331:ENST00000487109:exon16:c.A2460C:p.A820A,ENSG00000107331:ENST00000265662:exon17:c.A2373C:p.A791A,ENSG00000107331:ENST00000341511:exon17:c.A2373C:p.A791A Score=612;Name=lod=411 NA 9q34.3 NA NA NA NA rs12348881 0.09 0.09 0.096 0.104433 0.1074 0.0337 0.0994 0.1853 0.0685 0.09 0.03 0.09 0.17 0.0958 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225382 NA NA 0.097995 0.190487 NA 0.188 NA 6.3654716 1015 3 107937408 107937408 C T exonic IFT57 NA synonymous SNV IFT57:NM_018010:exon3:c.G468A:p.L156L exonic ENSG00000114446 NA synonymous SNV ENSG00000114446:ENST00000264538:exon3:c.G468A:p.L156L Score=655;Name=lod=610 NA 3q13.13 NA NA NA NA rs1135897 0.09 0.09 0.077 0.0888578 0.1064 0.1052 0.0821 0.0658 0.09 0.1 0.1 0.09 0.05 0.0897 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.072866 NA NA 0.105257 0.066046 NA 0.072 NA 6.3653096 1015 6 29581113 29581113 A G exonic GABBR1 NA synonymous SNV GABBR1:NM_021903:exon7:c.T1122C:p.S374S,GABBR1:NM_021904:exon11:c.T1287C:p.S429S,GABBR1:NM_001470:exon12:c.T1473C:p.S491S exonic ENSG00000204681 NA synonymous SNV ENSG00000204681:ENST00000355973:exon7:c.T1122C:p.S374S,ENSG00000204681:ENST00000377012:exon7:c.T1122C:p.S374S,ENSG00000204681:ENST00000377016:exon11:c.T1287C:p.S429S,ENSG00000204681:ENST00000494877:exon11:c.T1473C:p.S491S,ENSG00000204681:ENST00000376977:exon12:c.T1473C:p.S491S,ENSG00000204681:ENST00000377034:exon12:c.T1473C:p.S491S NA NA 6p22.1 Score=825;Name=V$PAX5_01 NA NA NA rs17854216 0.1 0.1 0.068 0.108826 0.0974 0.122 0.0807 0.0946 0.1462 0.09 0.12 0.09 0.09 0.1006 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.26274 NA NA 0.103582 0.090007 NA 0.123 NA 6.3650846 1015 12 1902905 1902905 G A exonic CACNA2D4 NA synonymous SNV CACNA2D4:NM_172364:exon38:c.C3330T:p.G1110G exonic ENSG00000151062 NA synonymous SNV ENSG00000151062:ENST00000538450:exon11:c.C720T:p.G240G,ENSG00000151062:ENST00000538027:exon12:c.C765T:p.G255G,ENSG00000151062:ENST00000587995:exon37:c.C3255T:p.G1085G,ENSG00000151062:ENST00000382722:exon38:c.C3330T:p.G1110G,ENSG00000151062:ENST00000588077:exon38:c.C3138T:p.G1046G NA NA 12p13.33 Score=767;Name=V$PAX5_02 NA NA NA rs33912216 0.11 0.11 0.085 0.122404 0.1044 0.0774 0.2478 0.1218 0.0992 0.09 0.05 0.23 0.13 0.1115 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446206 NA NA 0.085728 0.120879 NA 0.043 NA 6.3650386 1016 7 150940867 150940867 G A intronic SMARCD3 NA NA NA intronic ENSG00000082014 NA NA NA Score=697;Name=lod=904 NA 7q36.1 Score=820;Name=V$EVI1_04 NA Name=18 NA rs219229 0.22 0.22 0.226 0.260783 0.3111 0.124 0.2262 0.1823 0.4806 0.31 0.12 0.24 0.21 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071183 2.071183 NA 0.324953 0.232659 NA 0.21 NA 6.363947 1016 3 10312507 10312507 A G exonic TATDN2 NA synonymous SNV TATDN2:NM_014760:exon4:c.A1641G:p.L547L exonic ENSG00000157014,ENSG00000272410 NA synonymous SNV ENSG00000272410:ENST00000437082:exon3:c.A1470G:p.L490L,ENSG00000157014:ENST00000287652:exon4:c.A1641G:p.L547L,ENSG00000157014:ENST00000448281:exon4:c.A1641G:p.L547L Score=483;Name=lod=122 NA 3p25.3 NA NA NA NA rs2075353 0.13 0.13 0.117 0.111821 0.1034 0.2857 0.0576 0.0113 0.1155 0.1 0.29 0.06 0.02 0.1059 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.15607 NA NA 0.094884 0.02769 NA 0.116 NA 6.3624826 1016 8 129162433 129162433 G T ncRNA_exonic MIR1208 NA NA NA ncRNA_exonic ENSG00000221261 NA NA NA NA NA 8q24.21 NA Name=JunD,eGFP-JunB,FOSL2,c-Fos,c-Jun,Egr-1,eGFP-FOS,ZBTB7A_(SC-34508),GATA2_(CG2-96),eGFP-JunD,Pol2,FOSL1_(SC-183),GR,p300 Name=60 NA rs2648841 0.19 0.19 0.165 0.186302 0.0765 0.4345 0.1383 0.0794 0.2219 0.07 0.45 0.17 0.1 0.139 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303116 NA NA 0.089056 0.082589 NA 0.109 NA 6.3621106 1016 2 29092850 29092850 G T exonic TRMT61B NA synonymous SNV TRMT61B:NM_017910:exon1:c.C294A:p.S98S exonic ENSG00000171103 NA synonymous SNV ENSG00000171103:ENST00000306108:exon1:c.C294A:p.S98S,ENSG00000171103:ENST00000439947:exon1:c.C294A:p.S98S NA NA 2p23.2 NA Name=ZNF263 Name=14 NA rs4666122 0.53 0.53 0.489 0.505192 0.4115 0.7817 0.5735 0.3933 0.4192 0.44 0.76 0.54 0.39 0.4692 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719382 NA NA 0.424302 0.384476 NA 0.558 NA 6.3616646 1016 21 33840095 33840095 C T exonic EVA1C NA synonymous SNV EVA1C:NM_058187:exon4:c.C573T:p.Y191Y exonic ENSG00000166979 NA synonymous SNV ENSG00000166979:ENST00000457807:exon2:c.C252T:p.Y84Y,ENSG00000166979:ENST00000300255:exon4:c.C573T:p.Y191Y,ENSG00000166979:ENST00000382699:exon4:c.C573T:p.Y191Y,ENSG00000166979:ENST00000401402:exon4:c.C573T:p.Y191Y,ENSG00000166979:ENST00000412833:exon4:c.C288T:p.Y96Y NA NA 21q22.11 Score=806;Name=V$CMYB_01 NA NA NA rs8130653 0.06 0.06 0.055 0.0652955 0.1173 0.0149 0.062 0.0439 0.0951 0.11 0.01 0.07 0.04 0.0829 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537545 NA NA 0.104884 0.047889 NA 0.043 NA 6.3615826 1016 7 100610069 100610069 C T intergenic ACHE,MUC12 dist=116528;dist=2835 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000422757:exon8:c.C850T:p.H284Y,ENSG00000169894:ENST00000319509:exon10:c.C2554T:p.H852Y NA NA 7q22.1 NA NA Name=16 NA rs10258821 NA NA 0.534 NA NA NA NA NA NA NA NA NA NA 0.4725 0.5 1 T 0.035 B 0.048 B . . 1.000 N 1.5 L 3.17 T -0.931 T 0.022 T 0.073 0.494 6.681 -0.081 -0.020 -0.710 5.373 0.49425 NA 0.29 NA NA NA 0.428 NA 6.3608334 1016 2 29092679 29092679 T C exonic TRMT61B NA synonymous SNV TRMT61B:NM_017910:exon1:c.A465G:p.E155E exonic ENSG00000171103 NA synonymous SNV ENSG00000171103:ENST00000306108:exon1:c.A465G:p.E155E,ENSG00000171103:ENST00000439947:exon1:c.A465G:p.E155E Score=358;Name=lod=38 NA 2p23.2 NA Name=ZNF263 NA NA rs4233729 0.53 0.53 0.489 0.505192 0.4115 0.7817 0.5735 0.3933 0.4192 0.44 0.76 0.54 0.39 0.4701 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119199 NA NA 0.424302 0.384249 NA 0.572 NA 6.3607646 1016 2 234854550 234854550 G C exonic TRPM8 NA synonymous SNV TRPM8:NM_024080:exon7:c.G750C:p.L250L exonic ENSG00000144481 NA synonymous SNV ENSG00000144481:ENST00000324695:exon7:c.G750C:p.L250L,ENSG00000144481:ENST00000444298:exon7:c.G750C:p.L250L Score=536;Name=lod=202 NA 2q37.1 NA NA NA NA rs11562975 0.11 0.11 0.092 0.129992 0.0835 0.2093 0.1599 0.0174 0.227 0.09 0.2 0.14 0.03 0.1265 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811103 NA NA 0.097558 0.034044 NA 0.065 NA 6.3591086 1016 19 47969394 47969394 G A exonic SLC8A2 NA synonymous SNV SLC8A2:NM_015063:exon2:c.C267T:p.I89I exonic ENSG00000118160 NA synonymous SNV ENSG00000118160:ENST00000236877:exon2:c.C267T:p.I89I,ENSG00000118160:ENST00000597014:exon2:c.C33T:p.I11I Score=592;Name=lod=340 NA 19q13.32 NA NA NA NA rs12459087 0.06 0.06 0.044 0.0621006 0.1054 0.0655 0.0634 0.0015 0.0951 0.1 0.06 0.06 NA 0.0932 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151774 NA NA 0.109302 0.020881 NA 0.109 NA 6.3587646 1016 19 4512409 4512409 T C exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon3:c.A1521G:p.V507V exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon3:c.A1521G:p.V507V Score=333;Name=lod=30 NA 19p13.3 NA NA NA NA rs10410197 0.1 0.1 0.087 0.0948482 0.1103 0.002 0.0879 0.1982 0.0399 0.11 0.0035 0.1 0.2 0.0907 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367705 NA NA 0.107297 0.162488 NA 0.08 NA 6.3583696 1016 9 131767668 131767668 A C exonic NUP188 NA synonymous SNV NUP188:NM_015354:exon40:c.A4596C:p.S1532S exonic ENSG00000095319 NA synonymous SNV ENSG00000095319:ENST00000372577:exon40:c.A4596C:p.S1532S Score=417;Name=lod=66 NA 9q34.11 NA Name=ZNF274 NA NA rs2287363 0.47 0.47 0.453 0.451677 0.4672 0.4067 0.4957 0.4728 0.4223 0.47 0.39 0.49 0.54 0.4313 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848509 NA NA 0.409884 0.455515 NA 0.572 NA 6.3582826 1016 11 73021084 73021084 C T exonic ARHGEF17 NA synonymous SNV ARHGEF17:NM_014786:exon1:c.C1401T:p.I467I exonic ENSG00000110237 NA synonymous SNV ENSG00000110237:ENST00000263674:exon1:c.C1401T:p.I467I NA NA 11q13.4 Score=923;Name=V$LMO2COM_02 NA NA NA rs3741149 0.14 0.14 0.128 0.156949 0.0934 0.0437 0.0764 0.3918 0.0787 0.1 0.04 0.07 0.37 0.1151 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332199 NA NA 0.09993 0.329091 NA 0.196 NA 6.3582366 1016 11 62381106 62381106 G C exonic ROM1 NA nonsynonymous SNV ROM1:NM_000327:exon1:c.G353C:p.G118A exonic ENSG00000149489 NA nonsynonymous SNV ENSG00000149489:ENST00000278833:exon1:c.G353C:p.G118A NA NA 11q12.3 NA NA Name=5 NA rs1799959 0.93 0.93 0.92 0.935304 0.995 1 0.9755 0.7723 0.999 0.99 1 0.97 0.74 0.9822 1 1 T 0.0 B 0.001 B 0.004 N 1.000 P -1.31 N -1.04 T -0.932 T 0.000 T 0.132 -2.342 0.004 3.72 0.564 0.103 11.333 -2.342039 NA 1 0.997906 0.822434 NA 0.899 NA 6.3582274 1016 1 17017717 17017717 C T ncRNA_exonic ESPNP NA NA NA ncRNA_exonic ENSG00000268869 NA NA NA Score=586;Name=lod=321 NA 1p36.13 Score=919;Name=V$AREB6_02 NA NA NA rs12561804 NA NA 0.184 NA NA NA NA NA NA NA NA NA NA 0.3086 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011497 NA NA NA NA NA 0.196 NA 6.3580666 1016 15 35044757 35044757 C T exonic GJD2 NA synonymous SNV GJD2:NM_020660:exon2:c.G888A:p.E296E exonic ENSG00000159248 NA synonymous SNV ENSG00000159248:ENST00000290374:exon2:c.G888A:p.E296E Score=718;Name=lod=1099 NA 15q14 NA NA NA NA rs34964522 0.05 0.05 0.042 0.0377396 0.1093 NA 0.0605 0.0038 0.0327 0.12 NA 0.05 0.002 0.0836 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093132 NA NA 0.115752 0.02726 NA 0.014 NA 6.3580146 1016 1 240371106 240371106 C T exonic FMN2 NA synonymous SNV FMN2:NM_020066:exon5:c.C2994T:p.P998P exonic ENSG00000155816 NA synonymous SNV ENSG00000155816:ENST00000319653:exon5:c.C2994T:p.P998P Score=300;Name=lod=22 NA 1q43 NA NA NA NA rs11586155 0.21 0.21 NA NA NA NA NA NA NA 0.31 0.11 0.2 0.19 0.3088 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859617 NA NA NA NA NA NA NA 6.3578666 1016 5 167933156 167933156 A G exonic RARS NA synonymous SNV RARS:NM_002887:exon10:c.A1188G:p.L396L exonic ENSG00000113643 NA synonymous SNV ENSG00000113643:ENST00000538719:exon9:c.A570G:p.L190L,ENSG00000113643:ENST00000231572:exon10:c.A1188G:p.L396L NA NA 5q34 Score=759;Name=V$MEF2_04 NA NA NA rs61744940 0.06 0.06 0.036 0.0379393 0.1163 0.001 0.0634 0.0068 0.0194 0.12 0.0017 0.07 0.01 0.0841 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760232 NA NA 0.108488 0.022696 NA NA NA 6.3577786 1016 14 73957772 73957772 A G exonic C14orf169 NA unknown UNKNOWN ncRNA_exonic ENSG00000170468,ENSG00000255242 NA NA NA Score=361;Name=lod=39 NA 14q24.3 NA Name=TAF1,POU2F2,Pol2(phosphoS2),Pol2,Mxi1_(bHLH),E2F6,YY1_(C-20),ELF1_(SC-631),Max,Oct-2,Pol2(b),Ini1,NANOG_(SC-33759),YY1,Pol2-4H8,Sin3Ak-20,HEY1,NFKB,CCNT2,c-Myc,TCF12,TBP Name=3 NA rs10144469 0.81 0.81 0.798 NA NA NA NA NA NA 0.73 0.82 0.81 0.91 0.7595 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183716 NA NA 0.71663 0.851991 NA 0.319 NA 6.3572033 1016 22 31838085 31838085 G A exonic EIF4ENIF1 NA synonymous SNV EIF4ENIF1:NM_001164502:exon15:c.C1704T:p.S568S,EIF4ENIF1:NM_001164501:exon17:c.C2226T:p.S742S,EIF4ENIF1:NM_019843:exon17:c.C2226T:p.S742S exonic ENSG00000184708 NA synonymous SNV ENSG00000184708:ENST00000382180:exon9:c.C1191T:p.S397S,ENSG00000184708:ENST00000344710:exon15:c.C1704T:p.S568S,ENSG00000184708:ENST00000397523:exon15:c.C2154T:p.S718S,ENSG00000184708:ENST00000330125:exon17:c.C2226T:p.S742S,ENSG00000184708:ENST00000397525:exon17:c.C2226T:p.S742S Score=340;Name=lod=32 NA 22q12.2 Score=932;Name=V$TCF11_01 NA NA NA rs5997988 0.31 0.31 0.296 0.323682 0.4583 0.0377 0.3026 0.4039 0.3865 0.45 0.03 0.35 0.39 0.3918 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786116 NA NA 0.459651 0.422833 NA 0.348 NA 6.3569156 1016 19 39196745 39196745 C T exonic ACTN4 NA synonymous SNV ACTN4:NM_004924:exon5:c.C546T:p.N182N exonic ENSG00000130402 NA synonymous SNV ENSG00000130402:ENST00000252699:exon5:c.C546T:p.N182N Score=563;Name=lod=260 NA 19q13.2 Score=901;Name=V$CREBP1CJUN_01 NA NA NA rs3745859 0.38 0.38 0.38 0.339257 0.4364 0.4276 0.2853 0.2322 0.3313 0.44 0.47 0.31 0.24 0.4105 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991592 NA NA 0.462907 0.254653 NA 0.399 NA 6.3568596 1016 19 53740822 53740822 T C exonic ZNF677 NA synonymous SNV ZNF677:NM_182609:exon5:c.A1158G:p.E386E exonic ENSG00000197928 NA synonymous SNV ENSG00000197928:ENST00000333952:exon5:c.A1158G:p.E386E,ENSG00000197928:ENST00000598513:exon5:c.A1158G:p.E386E NA NA 19q13.42 NA Name=SETDB1,ZNF274,KAP1 Name=3 NA rs8113436 0.48 0.48 0.455 0.464856 0.4324 0.752 0.4294 0.2148 0.5654 0.43 0.75 0.44 0.26 0.4589 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113127 NA NA 0.419186 0.243305 ID=COSM148728;OCCURENCE=1(stomach) 0.399 NA 6.3561806 1016 3 48474249 48474249 A G exonic CCDC51 NA synonymous SNV CCDC51:NM_001256964:exon4:c.T805C:p.L269L,CCDC51:NM_001256965:exon4:c.T478C:p.L160L,CCDC51:NM_001256966:exon4:c.T478C:p.L160L,CCDC51:NM_001256967:exon4:c.T478C:p.L160L,CCDC51:NM_001256968:exon4:c.T478C:p.L160L,CCDC51:NM_001256969:exon4:c.T478C:p.L160L,CCDC51:NM_024661:exon4:c.T805C:p.L269L exonic ENSG00000164051 NA synonymous SNV ENSG00000164051:ENST00000395694:exon4:c.T805C:p.L269L,ENSG00000164051:ENST00000395696:exon4:c.T805C:p.L269L,ENSG00000164051:ENST00000412398:exon4:c.T478C:p.L160L,ENSG00000164051:ENST00000442740:exon4:c.T478C:p.L160L,ENSG00000164051:ENST00000447018:exon4:c.T478C:p.L160L NA NA 3p21.31 NA Name=CTCF,Rad21,IRF4_(M-17) Name=64 NA rs2279077 0.34 0.34 0.336 0.319888 0.4632 0.3135 0.2882 0.2413 0.3078 0.45 0.29 0.3 0.24 0.3817 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133815 NA NA 0.465605 0.269153 NA 0.399 NA 6.3561616 1016 17 17179481 17179481 G A intronic COPS3 NA NA NA exonic ENSG00000141030 NA synonymous SNV ENSG00000141030:ENST00000492672:exon2:c.C72T:p.S24S,ENSG00000141030:ENST00000578317:exon2:c.C72T:p.S24S Score=647;Name=lod=570 NA 17p11.2 NA Name=GR Name=4 NA rs4985761 0.46 0.46 0.407 0.400559 0.5089 0.6548 0.5173 0.0832 0.3732 0.53 0.65 0.48 0.1 0.4708 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.08971 2.08971 NA 0.497791 0.146391 NA 0.391 NA 6.3558423 1016 16 2162887 2162887 A G exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon13:c.T3063C:p.G1021G,PKD1:NM_001009944:exon13:c.T3063C:p.G1021G exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon13:c.T3063C:p.G1021G,ENSG00000008710:ENST00000423118:exon13:c.T3063C:p.G1021G Score=374;Name=lod=44 NA 16p13.3 NA NA NA NA rs2369068 0.16 0.16 0.15 0.182907 0.0944 NA 0.1427 0.5356 0.0143 0.09 NA 0.15 0.46 0.1105 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560237 NA NA 0.10593 0.460191 NA 0.181 NA 6.3558366 1016 4 138449683 138449683 A G exonic PCDH18 NA synonymous SNV PCDH18:NM_019035:exon3:c.T2689C:p.L897L exonic ENSG00000189184 NA synonymous SNV ENSG00000189184:ENST00000344876:exon3:c.T2689C:p.L897L,ENSG00000189184:ENST00000412923:exon3:c.T2686C:p.L896L,ENSG00000189184:ENST00000511115:exon3:c.T229C:p.L77L,ENSG00000189184:ENST00000507846:exon4:c.T2026C:p.L676L,ENSG00000189184:ENST00000510305:exon4:c.T322C:p.L108L Score=494;Name=lod=136 NA 4q28.3 NA Name=GATA-2 NA NA rs10018837 0.54 0.54 0.585 0.570487 0.4155 0.5079 0.4496 0.8994 0.4356 0.41 0.49 0.42 0.89 0.4742 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.544319 1.544319 NA 0.42186 0.802315 NA 0.696 NA 6.3551066 1016 20 56137798 56137798 G A exonic PCK1 NA synonymous SNV PCK1:NM_002591:exon4:c.G453A:p.S151S exonic ENSG00000124253 NA synonymous SNV ENSG00000124253:ENST00000535860:exon2:c.G57A:p.S19S,ENSG00000124253:ENST00000319441:exon4:c.G453A:p.S151S NA NA 20q13.31 Score=774;Name=V$PPARA_01 Name=HEY1 NA NA rs1062600 0.3 0.3 0.29 0.295128 0.4732 0.0308 0.3141 0.3101 0.3507 0.47 0.03 0.34 0.3 0.3788 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506946 NA NA 0.459651 0.321153 NA 0.384 NA 6.3550156 1017 1 155912486 155912486 T C exonic RXFP4 NA nonsynonymous SNV RXFP4:NM_181885:exon1:c.T986C:p.L329S exonic ENSG00000173080 NA nonsynonymous SNV ENSG00000173080:ENST00000368318:exon1:c.T986C:p.L329S NA NA 1q22 NA Name=Pol2 Name=39 NA rs2152051 0.95 0.95 0.926 0.924121 1 0.999 0.9813 0.7383 0.9796 1 1 0.98 0.77 0.9797 1 0.95 T 0.0 B 0.0 B 0.513 N 1.000 P -0.345 N 1.25 T -0.943 T 0.009 T 0.089 0.989 9.037 1.86 0.260 -0.036 4.614 0.988773 NA 0.57 0.999419 0.815395 NA 0.928 NA 6.3542144 1017 17 67513003 67513003 C A exonic MAP2K6 NA synonymous SNV MAP2K6:NM_002758:exon3:c.C91A:p.R31R exonic ENSG00000108984 NA synonymous SNV ENSG00000108984:ENST00000359094:exon3:c.C91A:p.R31R,ENSG00000108984:ENST00000590474:exon3:c.C91A:p.R31R,ENSG00000108984:ENST00000588110:exon4:c.C100A:p.R34R Score=581;Name=lod=306 NA 17q24.3 NA Name=YY1 NA NA rs1133228 0.43 0.43 0.417 0.427316 0.4374 0.4573 0.366 0.4206 0.4387 0.44 0.44 0.37 0.43 0.4364 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944226 NA NA 0.439302 0.412619 NA 0.442 NA 6.3535646 1017 6 32798548 32798548 G A exonic TAP2 NA synonymous SNV TAP2:NM_018833:exon8:c.C1308T:p.N436N exonic ENSG00000204267,ENSG00000250264 NA synonymous SNV ENSG00000204267:ENST00000374897:exon8:c.C1308T:p.N436N,ENSG00000204267:ENST00000374899:exon8:c.C1308T:p.N436N,ENSG00000250264:ENST00000452392:exon8:c.C1308T:p.N436N Score=441;Name=lod=83 NA 6p21.32 NA NA NA NA rs1042116 0.06 0.06 0.046 0.0427316 0.1183 0.0188 0.0634 0.0068 0.0235 0.11 0.03 0.07 0.01 0.0873 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689397 NA NA 0.108158 0.029782 NA 0.014 NA 6.3529086 1017 12 9833524 9833524 C G exonic CLEC2D NA nonsynonymous SNV CLEC2D:NM_001004419:exon2:c.C67G:p.L23V,CLEC2D:NM_001197318:exon2:c.C67G:p.L23V,CLEC2D:NM_013269:exon2:c.C67G:p.L23V exonic ENSG00000069493 NA nonsynonymous SNV ENSG00000069493:ENST00000430909:exon1:c.C4G:p.L2V,ENSG00000069493:ENST00000261340:exon2:c.C67G:p.L23V,ENSG00000069493:ENST00000290855:exon2:c.C67G:p.L23V,ENSG00000069493:ENST00000325960:exon2:c.C67G:p.L23V,ENSG00000069493:ENST00000444971:exon2:c.C67G:p.L23V,ENSG00000069493:ENST00000479877:exon2:c.C67G:p.L23V,ENSG00000069493:ENST00000543300:exon2:c.C67G:p.L23V NA NA 12p13.31 NA NA NA NA rs3764022 0.29 0.29 0.278 0.292332 0.338 0.3641 0.281 0.1006 0.4387 0.34 0.34 0.33 0.1 0.3187 0.34 . . 0.097 B 0.009 B . . 1.000 P 0.345 N 4.58 T -0.896 T 0.000 T 0.057 -0.083 3.592 0.395 0.141 -0.327 3.572 -0.08337 NA 0.11 0.324261 0.148047 NA 0.362 NA 6.3523724 1017 14 24649669 24649669 C T exonic IPO4 NA synonymous SNV IPO4:NM_024658:exon30:c.G3225A:p.Q1075Q exonic ENSG00000196497 NA synonymous SNV ENSG00000196497:ENST00000354464:exon30:c.G3225A:p.Q1075Q Score=454;Name=lod=93 NA 14q12 NA NA NA NA rs2273912 0.13 0.13 0.1 0.133187 0.0865 0.1022 0.2983 0.1104 0.1268 0.09 0.14 0.24 0.1 0.135 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514259 NA NA 0.093001 0.09557 ID=COSM147752;OCCURENCE=1(stomach) 0.109 NA 6.3521656 1017 19 53848779 53848779 T C exonic ZNF845 NA synonymous SNV ZNF845:NM_138374:exon3:c.T36C:p.D12D exonic ENSG00000213799 NA synonymous SNV ENSG00000213799:ENST00000458035:exon3:c.T36C:p.D12D,ENSG00000213799:ENST00000601857:exon3:c.T36C:p.D12D,ENSG00000213799:ENST00000595091:exon4:c.T36C:p.D12D Score=340;Name=lod=32 NA 19q13.42 NA NA NA NA rs75887836 0.12 0.12 0.114 0.134385 0.1083 0.1617 0.0893 0.1536 0.1391 0.11 0.14 0.09 0.16 0.107 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043543 NA NA 0.099309 0.140173 NA 0.167 NA 6.3520576 1017 6 44280812 44280812 C T intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA Score=493;Name=lod=134 NA 6p21.1 Score=847;Name=V$AP4_01 Name=ZBTB7A_(SC-34508),Pol2,NRSF,Pol2(b) Name=20 NA rs167772 0.47 0.47 0.453 0.453275 0.5507 0.3968 0.6037 0.3495 0.4448 0.55 0.41 0.61 0.3 0.5333 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.209939 NA NA 0.564085 0.367227 NA 0.507 NA 6.351915 1017 17 39635194 39635194 G A exonic KRT35 NA synonymous SNV KRT35:NM_002280:exon4:c.C765T:p.D255D exonic ENSG00000197079 NA synonymous SNV ENSG00000197079:ENST00000246639:exon4:c.C675T:p.D225D,ENSG00000197079:ENST00000393989:exon4:c.C765T:p.D255D Score=429;Name=lod=74 NA 17q21.2 NA NA NA NA rs12936485 0.08 0.08 0.068 0.0678914 0.1183 0.001 0.085 0.0537 0.092 0.12 0.0017 0.1 0.07 0.0948 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584272 NA NA 0.103023 0.054368 NA 0.094 NA 6.3505436 1017 1 33646950 33646950 A G exonic TRIM62 NA synonymous SNV TRIM62:NM_018207:exon1:c.T84C:p.H28H exonic ENSG00000116525 NA synonymous SNV ENSG00000116525:ENST00000291416:exon1:c.T84C:p.H28H Score=787;Name=lod=2104 NA 1p35.1 NA Name=TAF1,HA-E2F1,ZNF263 Name=142 NA rs622407 0.77 0.77 0.753 0.749601 0.7545 0.7946 0.7954 0.7095 0.7198 0.75 0.78 0.81 0.73 0.7747 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411646 NA NA 0.78715 0.7669 NA 0.391 NA 6.3503166 1017 2 174055646 174055646 T C exonic ZAK NA synonymous SNV ZAK:NM_016653:exon6:c.T439C:p.L147L,ZAK:NM_133646:exon6:c.T439C:p.L147L exonic ENSG00000091436 NA synonymous SNV ENSG00000091436:ENST00000431503:exon5:c.T136C:p.L46L,ENSG00000091436:ENST00000338983:exon6:c.T439C:p.L147L,ENSG00000091436:ENST00000375213:exon6:c.T439C:p.L147L,ENSG00000091436:ENST00000409176:exon6:c.T439C:p.L147L,ENSG00000091436:ENST00000539448:exon6:c.T439C:p.L147L Score=528;Name=lod=186 NA 2q31.1 NA NA NA NA rs35853276 0.13 0.13 0.142 0.142772 0.1103 NA 0.0821 0.3071 0.1442 0.11 NA 0.11 0.33 0.1061 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152458 NA NA 0.101699 0.242397 NA 0.239 NA 6.3485676 1017 4 89577214 89577214 A T intronic HERC3 NA NA NA exonic ENSG00000138641 NA nonsynonymous SNV ENSG00000138641:ENST00000407637:exon9:c.A1097T:p.K366M NA NA 4q22.1 NA NA NA NA rs2972040 0.41 0.41 0.433 0.447085 0.2425 0.4861 0.2507 0.652 0.4796 0.26 0.51 0.25 0.65 0.3311 0.65 . . 0.0 B 0.0 B . . 1.000 P . . 0.9 T -0.954 T 0.000 T 0.076 1.156 9.708 3.74 0.368 0.086 6.481 1.156181 NA 0.01 0.244535 0.592601 NA 0.42 NA 6.3485317 1017 6 56471402 56471402 G A ncRNA_intronic RNU6-71P NA NA NA exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000439203:exon26:c.C6413T:p.P2138L,ENSG00000151914:ENST00000446842:exon26:c.C6413T:p.P2138L,ENSG00000151914:ENST00000312431:exon36:c.C7391T:p.P2464L,ENSG00000151914:ENST00000361203:exon36:c.C7391T:p.P2464L,ENSG00000151914:ENST00000370769:exon36:c.C7391T:p.P2464L,ENSG00000151914:ENST00000370754:exon39:c.C7925T:p.P2642L NA NA 6p12.1 NA Name=Pol2 NA NA rs9382658 0.37 0.37 0.379 0.354233 0.3807 0.2431 0.3775 0.4985 0.2301 0.36 0.24 0.4 0.52 0.3626 0.52 1 T 0.0 B 0.001 B 0.379 N 1.000 P . . 1.26 T -1.027 T 0.052 T 0.056 0.306 5.658 -0.669 0.005 0.250 1.338 0.306073 NA 1 0.408803 0.485437 NA 0.442 NA 6.347897 1017 3 151463421 151463421 G T exonic AADACL2 NA nonsynonymous SNV AADACL2:NM_207365:exon4:c.G556T:p.A186S exonic ENSG00000197953 NA nonsynonymous SNV ENSG00000197953:ENST00000356517:exon4:c.G556T:p.A186S NA NA 3q25.1 NA NA NA NA rs1972977 0.69 0.69 0.655 0.706669 0.668 0.624 0.6455 0.823 0.7178 0.67 0.62 0.65 0.81 0.6726 0.81 1 T 0.0 B 0.006 B 0.024 N 1.000 P 0.635 N 0.26 T -0.886 T 0.000 T 0.093 -2.301 0.004 -3.34 -0.573 0.113 18.971 -2.300516 NA 1 0.644917 0.802088 NA 0.725 NA 6.3478164 1017 3 113955320 113955320 C T exonic ZNF80 NA nonsynonymous SNV ZNF80:NM_007136:exon1:c.G602A:p.R201H exonic ENSG00000174255 NA nonsynonymous SNV ENSG00000174255:ENST00000308095:exon1:c.G602A:p.R201H,ENSG00000174255:ENST00000482457:exon1:c.G602A:p.R201H NA NA 3q13.31 NA NA NA NA rs6438191 0.68 0.68 0.693 0.692692 0.6849 0.5427 0.6009 0.8487 0.7096 0.68 0.57 0.59 0.86 0.6566 0.86 0.16 T 0.0 B 0.0 B . . 1.000 P 0.91 L 3.1 T -1.087 T 0.000 T 0.032 0.383 6.079 0.351 -0.212 -2.141 0.244 0.382851 NA 0.19 0.644535 0.798684 NA 0.768 NA 6.3472984 1017 9 129453229 129453229 A G exonic LMX1B NA synonymous SNV LMX1B:NM_001174146:exon3:c.A441G:p.E147E,LMX1B:NM_001174147:exon3:c.A441G:p.E147E,LMX1B:NM_002316:exon3:c.A441G:p.E147E exonic ENSG00000136944 NA synonymous SNV ENSG00000136944:ENST00000355497:exon3:c.A441G:p.E147E,ENSG00000136944:ENST00000373474:exon3:c.A441G:p.E147E,ENSG00000136944:ENST00000425646:exon3:c.A372G:p.E124E,ENSG00000136944:ENST00000526117:exon3:c.A441G:p.E147E,ENSG00000136944:ENST00000561065:exon3:c.A372G:p.E124E Score=725;Name=lod=1184 NA 9q33.3 NA Name=CTCF NA NA rs2277158 0.48 0.48 0.48 0.480032 0.4394 0.5585 0.4092 0.5454 0.4029 0.42 0.54 0.48 0.5 0.4496 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.502328 1.502328 NA 0.430698 0.524739 NA 0.319 NA 6.3469686 1017 1 17609448 17609448 G T exonic PADI3 NA synonymous SNV PADI3:NM_016233:exon16:c.G1869T:p.P623P exonic ENSG00000142619 NA synonymous SNV ENSG00000142619:ENST00000375460:exon16:c.G1869T:p.P623P Score=649;Name=lod=577 NA 1p36.13 Score=855;Name=V$ZID_01 NA NA NA rs2293920 0.43 0.43 0.424 0.404952 0.4374 0.623 0.415 0.1725 0.454 0.45 0.64 0.38 0.17 0.4399 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966331 NA NA 0.442558 0.231276 NA 0.319 NA 6.3468086 1017 6 32362702 32362702 T C exonic BTNL2 NA synonymous SNV BTNL2:NM_019602:exon6:c.A1179G:p.P393P exonic ENSG00000204290 NA synonymous SNV ENSG00000204290:ENST00000414363:exon4:c.A549G:p.P183P,ENSG00000204290:ENST00000540315:exon4:c.A549G:p.P183P,ENSG00000204290:ENST00000544175:exon5:c.A348G:p.P116P,ENSG00000204290:ENST00000374993:exon6:c.A1179G:p.P393P,ENSG00000204290:ENST00000374995:exon6:c.A897G:p.P299P,ENSG00000204290:ENST00000454136:exon6:c.A1179G:p.P393P NA NA 6p21.32 Score=941;Name=V$NMYC_01 NA NA NA rs41342846 0.12 0.12 NA 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.11 0.15 0.15 0.09 0.1548 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76413 NA NA 0.002674 0.003404 NA NA NA 6.3461926 1017 17 3846802 3846802 A G exonic ATP2A3 NA synonymous SNV ATP2A3:NM_005173:exon11:c.T1302C:p.Y434Y,ATP2A3:NM_174953:exon11:c.T1302C:p.Y434Y,ATP2A3:NM_174954:exon11:c.T1302C:p.Y434Y,ATP2A3:NM_174955:exon11:c.T1302C:p.Y434Y,ATP2A3:NM_174956:exon11:c.T1302C:p.Y434Y,ATP2A3:NM_174957:exon11:c.T1302C:p.Y434Y,ATP2A3:NM_174958:exon11:c.T1302C:p.Y434Y exonic ENSG00000074370 NA synonymous SNV ENSG00000074370:ENST00000309890:exon11:c.T1302C:p.Y434Y,ENSG00000074370:ENST00000352011:exon11:c.T1302C:p.Y434Y,ENSG00000074370:ENST00000359983:exon11:c.T1302C:p.Y434Y,ENSG00000074370:ENST00000397035:exon11:c.T1302C:p.Y434Y,ENSG00000074370:ENST00000397041:exon11:c.T1302C:p.Y434Y,ENSG00000074370:ENST00000397043:exon11:c.T1302C:p.Y434Y Score=558;Name=lod=248 NA 17p13.2 Score=721;Name=V$HOX13_01 NA NA NA rs758641 0.35 0.35 0.325 0.333267 0.4563 0.0843 0.4582 0.3956 0.2904 0.47 0.08 0.49 0.37 0.4015 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16429 NA NA 0.462907 0.392646 NA 0.333 NA 6.3459596 1017 17 74944151 74944151 C T exonic MGAT5B NA synonymous SNV MGAT5B:NM_198955:exon15:c.C2190T:p.S730S,MGAT5B:NM_001199172:exon16:c.C2163T:p.S721S,MGAT5B:NM_144677:exon16:c.C2157T:p.S719S exonic ENSG00000167889 NA synonymous SNV ENSG00000167889:ENST00000428789:exon15:c.C2190T:p.S730S,ENSG00000167889:ENST00000301618:exon16:c.C2157T:p.S719S,ENSG00000167889:ENST00000569840:exon17:c.C2163T:p.S721S Score=545;Name=lod=218 NA 17q25.2 NA NA NA NA rs71384132 0.07 0.07 0.064 0.0686901 0.1034 NA 0.0922 0.0454 0.1186 0.1 NA 0.12 0.05 0.0991 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102795 NA NA 0.118256 0.055833 NA 0.094 NA 6.3459106 1017 2 89512854 89512854 A C intergenic MIR4436A,NONE dist=400886;dist=NONE NA NA downstream ENSG00000244575 NA NA NA Score=333;Name=lod=30 NA 2p11.2 NA Name=CTCF Name=44 NA rs410695 0.31 0.31 0.287 0.315695 0.1541 0.3165 0.3357 0.5234 0.1861 0.19 0.32 0.3 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064372 NA NA NA NA NA 0.007 NA 6.3459 1017 10 121436362 121436362 A G exonic BAG3 NA synonymous SNV BAG3:NM_004281:exon4:c.A1296G:p.V432V exonic ENSG00000151929 NA synonymous SNV ENSG00000151929:ENST00000369085:exon4:c.A1296G:p.V432V Score=554;Name=lod=238 NA 10q26.11 Score=814;Name=V$ARP1_01 NA NA NA rs196295 0.7 0.7 0.692 0.70647 0.8012 0.4881 0.7219 0.7534 0.7597 0.8 0.5 0.77 0.72 0.7409 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920116 NA NA 0.779186 0.753064 NA 0.783 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000037886.2|RCV000123817.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.3453806 1018 21 41165462 41165462 C A exonic IGSF5 NA nonsynonymous SNV IGSF5:NM_001080444:exon8:c.C1050A:p.D350E exonic ENSG00000183067 NA nonsynonymous SNV ENSG00000183067:ENST00000380588:exon8:c.C1050A:p.D350E NA NA 21q22.2 NA NA NA NA rs2837225 0.45 0.45 0.432 0.450479 0.333 0.4802 0.5173 0.5265 0.3906 0.35 0.49 0.5 0.51 0.3645 0.51 1 T 0.0 B 0.0 B 0.015 N 1.000 P 0 N 3.44 T -0.940 T 0.000 T 0.021 -1.499 0.017 -1.03 -0.476 -0.700 4.513 -1.499114 NA 1 0.29093 0.498638 ID=COSM149226;OCCURENCE=1(stomach) 0.406 NA 6.3449034 1018 7 20418678 20418678 C T exonic ITGB8 NA synonymous SNV ITGB8:NM_002214:exon4:c.C393T:p.A131A exonic ENSG00000105855 NA synonymous SNV ENSG00000105855:ENST00000222573:exon4:c.C393T:p.A131A Score=606;Name=lod=387 NA 7p21.1 NA NA NA NA rs3735619 0.19 0.19 0.174 0.160343 0.1004 0.4107 0.072 0.0998 0.1084 0.1 0.42 0.09 0.11 0.1265 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864472 NA NA 0.095216 0.114113 ID=COSM150243;OCCURENCE=1(stomach) 0.08 NA 6.3445506 1018 6 144081768 144081768 C A exonic PHACTR2 NA synonymous SNV PHACTR2:NM_001100164:exon5:c.C685A:p.R229R,PHACTR2:NM_014721:exon5:c.C652A:p.R218R exonic ENSG00000112419 NA synonymous SNV ENSG00000112419:ENST00000427704:exon5:c.C652A:p.R218R,ENSG00000112419:ENST00000440869:exon5:c.C685A:p.R229R Score=529;Name=lod=189 NA 6q24.2 NA NA NA NA rs2073215 0.22 0.22 0.223 0.219249 0.0964 0.3988 0.183 0.2247 0.1789 0.11 0.41 0.18 0.21 0.1453 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.447244 1.447244 NA 0.081398 0.209989 NA 0.188 NA 6.3435686 1018 3 107097346 107097346 C A exonic CCDC54 NA synonymous SNV CCDC54:NM_032600:exon1:c.C912A:p.T304T exonic ENSG00000138483 NA synonymous SNV ENSG00000138483:ENST00000261058:exon1:c.C912A:p.T304T Score=278;Name=lod=18 NA 3q13.12 NA NA NA NA rs3811061 0.08 0.08 0.083 0.0690895 0.1272 0.0357 0.0692 0.0204 0.1094 0.14 0.05 0.08 0.02 0.0865 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780673 NA NA 0.109506 0.036123 NA 0.087 NA 6.3434606 1018 12 94642023 94642023 C T exonic PLXNC1 NA synonymous SNV PLXNC1:NM_005761:exon14:c.C2613T:p.N871N exonic ENSG00000136040 NA synonymous SNV ENSG00000136040:ENST00000258526:exon14:c.C2613T:p.N871N Score=482;Name=lod=121 NA 12q22 NA NA NA NA rs2230756 0.06 0.06 0.054 0.0553115 0.1243 NA 0.0461 0.0348 0.0757 0.13 NA 0.04 0.04 0.0891 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10694 NA NA 0.110233 0.037903 NA 0.094 NA 6.3430336 1018 16 21045369 21045369 A G exonic DNAH3 NA synonymous SNV DNAH3:NM_017539:exon36:c.T5124C:p.I1708I exonic ENSG00000158486 NA synonymous SNV ENSG00000158486:ENST00000261383:exon36:c.T5124C:p.I1708I,ENSG00000158486:ENST00000415178:exon36:c.T5124C:p.I1708I Score=558;Name=lod=247 NA 16p12.3 NA NA NA NA rs2112494 0.1 0.1 0.087 0.104832 0.1044 0.1597 0.0908 0.0212 0.1718 0.12 0.14 0.09 0.03 0.1199 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34039 NA NA 0.099535 0.031804 NA 0.065 NA 6.3428316 1018 2 220404726 220404726 G A exonic CHPF NA synonymous SNV CHPF:NM_001195731:exon4:c.C1221T:p.H407H,CHPF:NM_024536:exon4:c.C1707T:p.H569H exonic ENSG00000123989 NA synonymous SNV ENSG00000123989:ENST00000243776:exon4:c.C1707T:p.H569H,ENSG00000123989:ENST00000535926:exon4:c.C1221T:p.H407H Score=436;Name=lod=79 NA 2q35 Score=967;Name=V$USF_Q6 NA NA NA rs1043832 0.36 0.36 0.342 0.30631 0.4523 0.2738 0.4841 0.1891 0.2219 0.46 0.27 0.44 0.22 0.4095 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69868 NA NA 0.462299 0.248523 NA 0.42 NA 6.3425676 1018 12 6935955 6935955 T C exonic GPR162 NA synonymous SNV GPR162:NM_014449:exon5:c.T501C:p.G167G,GPR162:NM_019858:exon5:c.T1353C:p.G451G exonic ENSG00000250510 NA synonymous SNV ENSG00000250510:ENST00000382315:exon4:c.T441C:p.G147G,ENSG00000250510:ENST00000311268:exon5:c.T1353C:p.G451G,ENSG00000250510:ENST00000428545:exon5:c.T501C:p.G167G Score=346;Name=lod=34 NA 12p13.31 NA NA NA NA rs35717080 0.11 0.11 0.061 0.0459265 0.1302 0.001 0.0519 0.0068 0.0542 0.17 0.05 0.11 0.06 0.0818 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547055 NA NA 0.112674 0.023377 NA 0.029 NA 6.3419926 1018 19 51302716 51302716 G A ncRNA_exonic SNORD88A NA NA NA ncRNA_exonic ENSG00000221241 NA NA NA Score=445;Name=lod=86 NA 19q13.33 Score=843;Name=V$PPARG_01 NA NA NA rs3810284 0.11 0.11 0.088 0.0992412 0.0805 0.126 0.0706 0.1505 0.0419 0.08 0.13 0.09 0.13 0.1528 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.909244 1.909244 NA 0.092238 0.128884 NA 0.072 NA 6.3411286 1018 15 45654327 45654327 A G exonic GATM NA synonymous SNV GATM:NM_001482:exon9:c.T1252C:p.L418L exonic ENSG00000171766 NA synonymous SNV ENSG00000171766:ENST00000396659:exon9:c.T1252C:p.L418L Score=527;Name=lod=185 NA 15q21.1 NA NA NA NA rs1145086 0.69 0.69 0.704 0.717652 0.4076 0.8988 0.6326 0.9213 0.635 0.4 0.94 0.59 0.92 0.5329 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822391 NA NA 0.385179 0.824841 NA 0.594 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117124.2;CLNDSDB=.;CLNDSDBID=. 6.3409876 1018 10 135438951 135438951 G A exonic FRG2B NA synonymous SNV FRG2B:NM_001080998:exon4:c.C489T:p.A163A exonic ENSG00000225899 NA synonymous SNV ENSG00000225899:ENST00000425520:exon4:c.C489T:p.A163A,ENSG00000225899:ENST00000443774:exon4:c.C492T:p.A164A NA NA 10q26.3 NA NA NA NA rs200483318 NA NA 0.191 NA NA NA NA NA NA NA NA NA NA 0.326 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02229 NA NA NA NA NA 0.007 CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000068867.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 6.3406666 1018 12 97102578 97102578 G A intergenic CDK17,NEDD1 dist=308212;dist=198423 NA NA exonic ENSG00000270032 NA nonsynonymous SNV ENSG00000270032:ENST00000524981:exon15:c.G2074A:p.E692K Score=325;Name=lod=28 NA 12q23.1 NA NA NA NA rs7968231 0.9 0.9 0.892 0.91853 0.8211 0.9484 0.8963 0.9735 0.9294 0.83 0.94 0.87 0.97 0.8649 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . . . -0.929 T 0.000 T 0.169 -0.952 0.339 5.07 0.884 2.840 8.022 -0.951692 NA 1 0.806932 0.950749 NA 0.884 NA 6.3404014 1018 17 65732093 65732093 A G exonic NOL11 NA synonymous SNV NOL11:NM_015462:exon9:c.A1008G:p.S336S exonic ENSG00000130935 NA synonymous SNV ENSG00000130935:ENST00000535137:exon8:c.A462G:p.S154S,ENSG00000130935:ENST00000253247:exon9:c.A1008G:p.S336S Score=483;Name=lod=122 NA 17q24.2 NA NA NA NA rs3760227 0.11 0.11 0.098 0.0870607 0.1193 0.13 0.0937 0.0575 0.045 0.13 0.14 0.09 0.07 0.1005 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224978 NA NA 0.107558 0.060372 NA 0.13 NA 6.3393086 1018 22 22869742 22869742 C A exonic ZNF280A NA nonsynonymous SNV ZNF280A:NM_080740:exon2:c.G213T:p.K71N exonic ENSG00000169548 NA nonsynonymous SNV ENSG00000169548:ENST00000302097:exon2:c.G213T:p.K71N NA NA 22q11.22 NA Name=USF-1 NA NA rs361959 0.53 0.53 0.489 0.473842 0.7038 0.4147 0.7349 0.2398 0.4294 0.7 0.43 0.7 0.26 0.6101 0.7 0.34 T 0.0 B 0.0 B . . 1.000 P -1.1 N 1.96 T -1.026 T 0.000 T 0.009 0.041 4.228 -0.551 -0.555 -0.005 3.910 0.041208 NA 0.32 0.680581 0.307762 NA 0.413 NA 6.3388524 1018 6 33144243 33144243 T A exonic COL11A2 NA synonymous SNV COL11A2:NM_080679:exon24:c.A1815T:p.G605G,COL11A2:NM_080681:exon25:c.A1878T:p.G626G,COL11A2:NM_080680:exon27:c.A2136T:p.G712G exonic ENSG00000204248 NA synonymous SNV ENSG00000204248:ENST00000361917:exon24:c.A1815T:p.G605G,ENSG00000204248:ENST00000374708:exon25:c.A1878T:p.G626G,ENSG00000204248:ENST00000374712:exon25:c.A1893T:p.G631G,ENSG00000204248:ENST00000374713:exon25:c.A1995T:p.G665G,ENSG00000204248:ENST00000357486:exon26:c.A2073T:p.G691G,ENSG00000204248:ENST00000374714:exon26:c.A2058T:p.G686G,ENSG00000204248:ENST00000395197:exon26:c.A1956T:p.G652G,ENSG00000204248:ENST00000341947:exon27:c.A2136T:p.G712G Score=563;Name=lod=259 NA 6p21.32 NA NA NA NA rs1799908 0.54 0.54 0.528 0.547125 0.4414 0.7192 0.5144 0.5242 0.5327 0.44 0.7 0.55 0.51 0.4788 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.58027 1.58027 NA 0.407866 0.493051 ID=COSM451289;OCCURENCE=1(breast) 0.543 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039828.1;CLNDSDB=.;CLNDSDBID=. 6.3386006 1018 22 22869218 22869218 T C exonic ZNF280A NA nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A737G:p.N246S exonic ENSG00000169548 NA nonsynonymous SNV ENSG00000169548:ENST00000302097:exon2:c.A737G:p.N246S NA NA 22q11.22 NA NA NA NA rs362132 0.53 0.53 0.473 0.473442 0.7038 0.4147 0.732 0.2383 0.4315 0.7 0.43 0.7 0.26 0.6103 0.7 0.66 T 0.361 B 0.046 B . . 1.000 P 0.55 N 5.17 T -1.104 T 0.000 T 0.008 0.857 8.469 0.027 -0.070 1.136 2.487 0.857162 NA 0.23 0.68093 0.308216 NA 0.406 NA 6.3383034 1018 16 89294595 89294595 C T exonic ZNF778 NA synonymous SNV ZNF778:NM_182531:exon6:c.C1815T:p.I605I,ZNF778:NM_001201407:exon7:c.C1899T:p.I633I exonic ENSG00000170100 NA synonymous SNV ENSG00000170100:ENST00000306502:exon5:c.C1689T:p.I563I,ENSG00000170100:ENST00000433976:exon6:c.C1815T:p.I605I NA NA 16q24.3 NA Name=SETDB1 NA NA rs74466939 0.15 0.15 0.144 0.16234 0.0815 0.1746 0.2651 0.1248 0.2106 0.07 0.2 0.23 0.15 0.1478 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62039 NA NA 0.100023 0.126937 NA 0.181 NA 6.3373436 1018 15 65489688 65489688 T C exonic CILP NA nonsynonymous SNV CILP:NM_003613:exon9:c.A2936G:p.Q979R exonic ENSG00000138615 NA nonsynonymous SNV ENSG00000138615:ENST00000261883:exon9:c.A2936G:p.Q979R NA NA 15q22.31 NA NA NA NA rs2679117 0.99 0.99 0.991 0.991014 1 1 1 0.966 1 1 1 1 0.95 0.9965 1 1 T 0.0 B 0.0 B 0.254 N 1.000 P -0.235 N 3.01 T -0.921 T 0.000 T 0.007 -1.681 0.012 -8.8 -1.771 -0.901 12.368 -1.681485 NA 1 0.999767 0.959355 NA 0.993 NA 6.3370664 1018 19 51507020 51507020 T G exonic KLK9 NA synonymous SNV KLK9:NM_012315:exon4:c.A543C:p.G181G exonic ENSG00000213022,ENSG00000269741 NA synonymous SNV ENSG00000269741:ENST00000599166:exon1:c.A66C:p.G22G,ENSG00000269741:ENST00000250366:exon4:c.A543C:p.G181G,ENSG00000213022:ENST00000376832:exon4:c.A543C:p.G181G,ENSG00000213022:ENST00000594211:exon4:c.A543C:p.G181G Score=340;Name=lod=32 NA 19q13.41 Score=878;Name=V$IK3_01 NA NA NA rs2075802 0.48 0.48 0.475 0.484225 0.4374 0.2569 0.5086 0.8041 0.317 0.44 0.27 0.52 0.78 0.4535 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500601 NA NA 0.439186 0.75261 NA 0.587 NA 6.3365806 1018 5 95768847 95768847 A G UTR5 PCSK1 NM_000439:c.-101T>C NA NA ncRNA_UTR5 ENSG00000175426 NA NA NA NA NA 5q15 NA Name=NRSF Name=12 NA rs6230 0.23 0.23 0.218 0.251797 0.164 0.2768 0.1614 0.2776 0.3456 0.18 0.29 0.17 0.27 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010142 NA NA NA NA NA 0.203 NA 6.336 1018 1 145561116 145561116 G A exonic ANKRD35 NA synonymous SNV ANKRD35:NM_144698:exon10:c.G804A:p.Q268Q exonic ENSG00000198483 NA synonymous SNV ENSG00000198483:ENST00000355594:exon10:c.G804A:p.Q268Q Score=443;Name=lod=84 NA 1q21.1 NA NA NA NA rs11578772 0.05 0.05 0.041 0.0365415 0.1133 NA 0.0692 0.0023 0.0184 0.11 NA 0.07 0.002 0.0926 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.907034 NA NA 0.124767 0.026101 NA 0.072 NA 6.3359996 1018 20 25264814 25264814 T C exonic PYGB NA synonymous SNV PYGB:NM_002862:exon14:c.T1695C:p.D565D exonic ENSG00000100994 NA synonymous SNV ENSG00000100994:ENST00000216962:exon14:c.T1695C:p.D565D Score=456;Name=lod=95 NA 20p11.21 Score=865;Name=V$YY1_01 NA NA NA rs2227892 0.55 0.55 0.542 0.536941 0.4334 0.9107 0.3473 0.4516 0.5082 0.44 0.93 0.35 0.44 0.4609 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329799 NA NA 0.436512 0.431911 NA 0.486 NA 6.3358546 1019 1 145112428 145112428 C T exonic SEC22B NA unknown UNKNOWN ncRNA_exonic ENSG00000223380 NA NA NA Score=698;Name=lod=912 NA 1q21.1 NA NA Name=5 NA rs2794040 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4992 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.252488 3.252488 NA NA NA NA 0.058 NA 6.3341333 1019 7 100551778 100551778 G A intergenic ACHE,MUC12 dist=58237;dist=61126 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.G529A:p.V177M NA NA 7q22.1 NA NA NA NA rs73714247 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4993 0.49 0.28 T 0.0 B 0.0 B . . 0.635 N 0 N 3.21 T -0.946 T 0.010 T 0.038 0.002 4.024 -0.48 -1.082 -0.625 2.315 0.00185 NA 0.27 NA NA NA 0.493 NA 6.3340334 1019 7 142180704 142180704 G T intergenic LOC730441,MTRNR2L6 dist=208636;dist=193427 NA NA exonic ENSG00000211721 NA nonsynonymous SNV ENSG00000211721:ENST00000390368:exon2:c.C155A:p.S52Y Score=284;Name=lod=19 NA 7q34 NA NA Name=4 NA rs368420989 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4993 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.834931 NA 1 NA NA NA NA NA 6.3340334 1019 13 45149662 45149662 G A exonic TSC22D1 NA synonymous SNV TSC22D1:NM_001243799:exon1:c.C549T:p.A183A,TSC22D1:NM_183422:exon1:c.C549T:p.A183A exonic ENSG00000102804 NA synonymous SNV ENSG00000102804:ENST00000458659:exon1:c.C549T:p.A183A,ENSG00000102804:ENST00000501704:exon1:c.C549T:p.A183A NA NA 13q14.11 Score=754;Name=V$STAT5A_02 NA NA NA rs9525984 0.05 0.05 0.046 0.0527157 0.1163 0.001 0.0937 0.0166 0.0603 0.12 NA 0.06 0.02 0.0928 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654366 NA NA 0.123721 0.032229 NA 0.13 NA 6.3338456 1019 7 100552535 100552535 G A intergenic ACHE,MUC12 dist=58994;dist=60369 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.G1286A:p.S429N NA NA 7q22.1 NA NA NA NA rs73163758 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4995 NA 0.73 T 0.019 B 0.007 B . . 0.723 N 0 N 3.24 T -0.916 T 0.009 T 0.052 -1.993 0.007 -0.671 -0.199 -2.615 2.918 -1.993492 NA 0.3 NA NA NA NA NA 6.3338334 1019 12 48866792 48866792 C T exonic ANP32D NA synonymous SNV ANP32D:NM_012404:exon1:c.C345T:p.L115L exonic ENSG00000139223 NA synonymous SNV ENSG00000139223:ENST00000266594:exon1:c.C345T:p.L115L Score=694;Name=lod=883 NA 12q13.11 NA NA NA NA rs7966826 0.28 0.28 0.228 0.290335 0.0815 0.6548 0.3357 0.1604 0.273 0.09 0.63 0.3 0.14 0.1868 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290044 1.290044 NA 0.064535 0.155016 ID=COSM147491;OCCURENCE=1(stomach) 0.174 NA 6.3338316 1019 7 100549787 100549787 C T intergenic ACHE,MUC12 dist=56246;dist=63117 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.C368T:p.S123L NA NA 7q22.1 NA NA NA NA rs73714227 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.4999 NA 0.29 T . . . . . . . . 0.345 N . . -0.985 T 0.058 T 0.296 1.389 10.58 -1.23 -0.348 -5.624 6.586 1.389278 1.389278 0.45 NA NA ID=COSM304005;OCCURENCE=1(central_nervous_system) NA NA 6.3334334 1019 1 244735858 244735858 A G exonic C1orf101 NA synonymous SNV C1orf101:NM_001242340:exon8:c.A1281G:p.T427T,C1orf101:NM_001130957:exon11:c.A1734G:p.T578T,C1orf101:NM_173807:exon11:c.A1734G:p.T578T exonic ENSG00000179397 NA synonymous SNV ENSG00000179397:ENST00000428042:exon7:c.A1494G:p.T498T,ENSG00000179397:ENST00000366531:exon8:c.A1281G:p.T427T,ENSG00000179397:ENST00000366533:exon11:c.A1734G:p.T578T,ENSG00000179397:ENST00000366534:exon11:c.A1734G:p.T578T NA NA 1q44 NA Name=SETDB1 NA NA rs10927267 0.25 0.25 0.231 0.271965 0.0785 0.373 0.2464 0.4289 0.1728 0.08 0.36 0.23 0.41 0.1658 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084132 NA NA 0.088953 0.384249 ID=COSM425808,COSM1473723;OCCURENCE=1(breast) 0.254 NA 6.3334136 1019 1 144892149 144892149 G A UTR3 PDE4DIP NM_001002812:c.*65C>T,NM_001002811:c.*65C>T NA NA UTR3 ENSG00000178104 ENST00000369349:c.*65C>T,ENST00000369351:c.*289C>T,ENST00000313431:c.*65C>T NA NA NA NA 1q21.1 NA Name=KAP1 Name=4 NA rs1698709 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276164 NA NA NA NA NA 0.493 NA 6.3333334 1019 2 133018849 133018849 G A intergenic ANKRD30BL,GPR39 dist=3307;dist=155298 NA NA intergenic ENSG00000221288,ENSG00000233786 dist=4196;dist=1052 NA NA Score=728;Name=lod=1217 NA 2q21.2 NA Name=ZBTB33 Name=147 NA rs112058313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223961 NA NA NA NA NA NA NA 6.3333334 1019 3 74313501 74313501 T C UTR3 CNTN3 NM_020872:c.*51A>G NA NA UTR3 ENSG00000113805 ENST00000263665:c.*51A>G NA NA Score=483;Name=lod=122 NA 3p12.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833134 NA NA NA NA NA NA NA 6.3333334 1019 7 75792358 75792358 A G intergenic MDH2,SRRM3 dist=96428;dist=38858 NA NA intergenic ENSG00000224273,ENSG00000228829 dist=30853;dist=10693 NA NA NA NA 7q11.23 NA Name=FOSL2,JunD Name=25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66274 NA NA NA NA NA 0.007 NA 6.3333334 1019 10 70968818 70968818 A T UTR3 SUPV3L1 NM_003171:c.*27A>T NA NA UTR3 ENSG00000156502 ENST00000359655:c.*27A>T NA NA Score=265;Name=lod=16 NA 10q22.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973027 NA NA NA NA NA NA NA 6.3333334 1019 12 57335150 57335150 G A intergenic SDR9C7,RDH16 dist=6961;dist=10066 NA NA intergenic ENSG00000170426,ENSG00000139547 dist=6961;dist=10069 NA NA Score=517;Name=lod=168 NA 12q13.3 NA Name=GR,c-Myc Name=38 NA rs71459397 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723127 NA NA NA NA NA 0.174 NA 6.3333334 1019 12 57335154 57335154 G A intergenic SDR9C7,RDH16 dist=6965;dist=10062 NA NA intergenic ENSG00000170426,ENSG00000139547 dist=6965;dist=10065 NA NA Score=517;Name=lod=168 NA 12q13.3 NA Name=c-Myc,FOSL2,GR Name=38 NA rs71459398 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295342 NA NA NA NA NA 0.196 NA 6.3333334 1019 12 57911309 57911309 T C UTR5 DDIT3 NM_001195054:c.-51A>G,NM_001195053:c.-51A>G,NM_001195056:c.-51A>G NA NA UTR5;UTR3 ENSG00000175197;ENSG00000166986 ENST00000551116:c.-51A>G,ENST00000552740:c.-51A>G,ENST00000547526:c.-51A>G;ENST00000537638:c.*1222T>C NA NA NA NA 12q13.3 NA Name=Pol2(b),Pol2 Name=103 NA rs28382851 0.0018 0.0018 0.002 0.00279553 NA NA 0.0014 0.0091 0.001 NA NA NA 0.01 NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499043 1.499043 NA NA NA NA 0.014 NA 6.3333334 1019 12 132166871 132166871 C T intergenic LOC116437,SFSWAP dist=469395;dist=28761 NA NA intergenic ENSG00000243499,ENSG00000061936 dist=14080;dist=28763 NA NA Score=426;Name=lod=72 NA 12q24.33 NA Name=IRF1,SP1 Name=36 NA rs113096312 0.13 0.13 0.097 NA NA NA NA NA NA 0.16 0.04 0.17 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005026 NA NA NA NA NA NA NA 6.3333334 1019 12 132166877 132166877 G A intergenic LOC116437,SFSWAP dist=469401;dist=28755 NA NA intergenic ENSG00000243499,ENSG00000061936 dist=14086;dist=28757 NA NA Score=426;Name=lod=72 NA 12q24.33 NA Name=IRF1,SP1 Name=36 NA rs373665046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002883 NA NA NA NA NA NA NA 6.3333334 1019 18 61637385 61637385 A G UTR5 SERPINB8 NM_001031848:c.-8158A>G,NM_002640:c.-8158A>G,NM_001276490:c.-13550A>G,NM_198833:c.-8158A>G NA NA UTR5 ENSG00000166401 ENST00000397985:c.-8158A>G,ENST00000353706:c.-8158A>G,ENST00000542677:c.-13550A>G,ENST00000397988:c.-8158A>G NA NA NA NA 18q22.1 NA Name=Mxi1_(bHLH),Pol2,Pol2(phosphoS2),TCF4,YY1_(C-20),TR4,TAF1,POU2F2,GABP,CEBPB,GTF2F1_(RAP-74),Oct-2,RFX5_(N-494),c-Jun,c-Fos,JunD,ELK4,p300_(N-15),TBP,eGFP-FOS Name=133 NA rs55686360 0.08 0.08 0.033 NA NA NA NA NA NA 0.06 0.04 0.09 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012629 NA NA NA NA NA 0.043 NA 6.3333334 1019 19 9453846 9453846 T A UTR3 ZNF559 NM_001202410:c.*1542T>A,NM_001202407:c.*102T>A,NM_001202406:c.*102T>A,NM_001202409:c.*1542T>A,NM_001202408:c.*1542T>A,NM_001202411:c.*1542T>A,NM_032497:c.*102T>A,NM_001202412:c.*1542T>A NA NA UTR3 ENSG00000188321 ENST00000587557:c.*102T>A,ENST00000317221:c.*1542T>A,ENST00000603380:c.*102T>A,ENST00000605750:c.*102T>A,ENST00000538743:c.*102T>A,ENST00000393883:c.*102T>A NA NA Score=251;Name=lod=14 NA 19p13.2 NA Name=SETDB1 NA NA rs112547151 0.02 0.02 0.021 0.0279553 NA NA 0.0072 0.1021 NA NA NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.077546 NA NA NA NA NA 0.029 NA 6.3333334 1019 19 21688452 21688452 C T UTR5 ZNF429 NM_001001415:c.-122C>T NA NA UTR5 ENSG00000197013 ENST00000358491:c.-122C>T,ENST00000597078:c.-122C>T NA NA NA NA 19p12 NA Name=TBP,IRF1,HEY1,NFKB,RFX5_(N-494),YY1,Pol2-4H8,Pol2(b),p300,ELF1_(SC-631),NF-YB,SP1,Pol2,TAF7_(SQ-8),YY1_(C-20),TAF1,SP2_(SC-643),NF-YA Name=140 NA rs148740939 0.0041 0.0041 0.005 0.00838658 NA NA 0.0014 0.031 NA NA NA 0.0028 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060995 NA NA NA NA NA 0.007 NA 6.3333334 1019 19 41257185 41257185 C T UTR5 SNRPA NM_004596:c.-129C>T NA NA UTR5 ENSG00000077312 ENST00000243563:c.-129C>T,ENST00000601393:c.-129C>T NA NA NA NA 19q13.2 NA Name=GABP,ZBTB33,E2F4,TAF1,E2F6_(H-50),ETS1,E2F6,BRCA1_(C-1863),YY1_(C-20),TAF7_(SQ-8),Pol2(phosphoS2),Pol2,Mxi1_(bHLH),PU.1,ELF1_(SC-631),Max,GTF2F1_(RAP-74),RXRA,CHD2_(N-1250),Pol2-4H8,E2F1,Sin3Ak-20,HA-E2F1,NFKB,HEY1,c-Myc,TBP,USF-1 Name=141 NA rs75531803 0.01 0.01 0.011 0.0129792 NA 0.001 0.0072 0.0446 NA NA NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194401 NA NA NA NA NA 0.007 NA 6.3333334 1019 20 31022959 31022959 T C exonic ASXL1 NA nonsynonymous SNV ASXL1:NM_015338:exon12:c.T2444C:p.L815P exonic ENSG00000171456 NA nonsynonymous SNV ENSG00000171456:ENST00000306058:exon12:c.T2429C:p.L810P,ENSG00000171456:ENST00000375687:exon13:c.T2444C:p.L815P NA NA 20q11.21 NA NA NA NA rs6058694 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.76 T 0.0 B 0.0 B 0.079 N 1.000 P -0.345 N 2.51 T -1.031 T 0.000 T 0.066 0.652 7.496 -4.18 -1.372 -0.136 3.524 0.651586 NA 0.29 1 0.999773 NA 1 NA 6.3333334 1019 1 53461554 53461554 T C intronic SCP2 NA NA NA ncRNA_exonic ENSG00000226147 NA NA NA Score=855;Name=lod=3987 NA 1p32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602891 NA NA NA NA NA NA NA 6.3333333 1019 1 180404120 180404120 G C intronic ACBD6 NA NA NA ncRNA_exonic ENSG00000235060 NA NA NA Score=714;Name=lod=1060 NA 1q25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168816 NA NA NA NA NA NA NA 6.3333333 1019 3 141762850 141762850 G A intronic TFDP2 NA NA NA ncRNA_exonic ENSG00000233597 NA NA NA Score=687;Name=lod=825 NA 3q23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061507 NA NA NA NA NA NA NA 6.3333333 1019 4 77322494 77322494 G C intronic CCDC158 NA NA NA ncRNA_exonic ENSG00000240426 NA NA NA Score=569;Name=lod=275 NA 4q21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506247 NA NA NA NA NA NA NA 6.3333333 1019 5 31840906 31840906 A G intronic PDZD2 NA NA NA ncRNA_exonic ENSG00000241739 NA NA NA Score=701;Name=lod=941 NA 5p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084814 NA NA NA NA NA NA NA 6.3333333 1019 8 39855489 39855489 G T intronic IDO2 NA NA NA ncRNA_exonic ENSG00000253790 NA NA NA Score=691;Name=lod=855 NA 8p11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216218 NA NA NA NA NA NA NA 6.3333333 1019 9 140777432 140777432 C T intronic CACNA1B NA NA NA ncRNA_exonic ENSG00000203987 NA NA NA NA NA 9q34.3 NA Name=SUZ12,NRSF Name=9 NA rs7863142 NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427552 NA NA NA NA NA 0.406 NA 6.3333333 1019 9 140777524 140777524 G A intronic CACNA1B NA NA NA ncRNA_intronic ENSG00000203987 NA NA NA NA NA 9q34.3 NA Name=CTCF Name=9 NA rs6559245 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093101 NA NA NA NA NA 0.493 NA 6.3333333 1019 10 126179066 126179066 G A intronic LHPP NA NA NA ncRNA_exonic ENSG00000229455 NA NA NA Score=717;Name=lod=1094 NA 10q26.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231716 NA NA NA NA NA NA NA 6.3333333 1019 11 9981281 9981281 A G intronic SBF2 NA NA NA ncRNA_exonic ENSG00000254765 NA NA NA Score=599;Name=lod=361 NA 11p15.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.710733 NA NA NA NA NA NA NA 6.3333333 1019 11 56507838 56507838 A G intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA Score=448;Name=lod=88 NA 11q12.1 Score=839;Name=V$POU3F2_01 NA NA NA rs74219940 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179915 NA NA NA NA NA NA NA 6.3333333 1019 12 66957355 66957355 C G intronic GRIP1 NA NA NA ncRNA_exonic ENSG00000256285 NA NA NA Score=445;Name=lod=86 NA 12q14.3 NA Name=SETDB1 NA NA rs73323150 NA NA 0.225 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750453 NA NA NA NA NA NA NA 6.3333333 1019 12 121283425 121283425 C A intronic SPPL3 NA NA NA ncRNA_exonic ENSG00000213137 NA NA NA Score=764;Name=lod=1692 NA 12q24.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318444 1.318444 NA NA NA NA NA NA 6.3333333 1019 15 80872633 80872633 G A intronic ARNT2 NA NA NA ncRNA_exonic ENSG00000270919 NA NA NA NA NA 15q25.1 NA Name=BAF155,JunD,AP-2alpha,c-Jun,STAT3,AP-2gamma Name=98 NA rs4778827 0.04 0.04 0.047 0.0499201 NA NA 0.0043 0.1868 NA NA NA 0.01 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721635 NA NA NA NA NA 0.065 NA 6.3333333 1019 16 15082865 15082865 C T intronic PDXDC1 NA NA NA ncRNA_exonic ENSG00000261819 NA NA NA Score=617;Name=lod=430 Name=Phospholipid levels (plasma) 16p13.11 NA NA NA NA rs4985167 0.31 0.31 0.229 NA NA NA NA NA NA 0.27 0.45 0.39 0.14 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646133 NA 0.25 NA NA NA 0.275 NA 6.3333333 1019 21 11039450 11039450 A G intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA Score=272;Name=lod=17 NA 21p11.1 NA NA Name=6 NA rs3915344 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493871 NA NA NA NA NA 0.333 NA 6.3333333 1019 11 10555707 10555707 A T UTR5 RNF141 NM_016422:c.-2T>A NA NA UTR5 ENSG00000110315 ENST00000265981:c.-2T>A,ENST00000528665:c.-2T>A,ENST00000533412:c.-2T>A,ENST00000530156:c.-2T>A NA NA Score=505;Name=lod=151 NA 11p15.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003306 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.458246 2.458246 NA NA NA NA NA NA 6.3333003 1019 15 41195551 41195551 C T UTR3 VPS18 NM_020857:c.*12C>T NA NA UTR3 ENSG00000104142 ENST00000220509:c.*12C>T NA NA NA NA 15q15.1 NA Name=CTCF Name=6 NA rs187027964 0.0009 0.0009 NA 0.000599042 NA NA 0.0043 NA NA NA NA 0.01 NA 0.0002 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.054557 2.054557 NA NA NA NA 0.007 NA 6.3331334 1019 7 137028280 137028280 T C UTR5 PTN NM_002825:c.-88560A>G NA NA UTR5 ENSG00000105894 ENST00000348225:c.-88560A>G,ENST00000393083:c.-88560A>G NA NA NA NA 7q33 NA Name=TAF1,Pol2,HA-E2F1 Name=80 NA rs201968835 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327067 1.327067 NA NA NA NA NA NA 6.3330334 1019 7 100552135 100552135 T C intergenic ACHE,MUC12 dist=58594;dist=60769 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.T886C:p.S296P NA NA 7q22.1 NA NA NA NA rs62483700 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.4997 0.4 1 T 0.0 B 0.0 B . . 1.000 N 0 N 3.16 T -0.922 T 0.008 T 0.065 -2.266 0.004 -0.681 -0.724 -1.218 2.981 -2.265895 NA 0.74 NA NA NA 0.391 NA 6.3326334 1019 1 161199781 161199781 C T UTR3 TOMM40L NM_032174:c.*896C>T NA NA UTR3 ENSG00000158882 ENST00000367988:c.*896C>T,ENST00000367987:c.*896C>T NA NA NA NA 1q23.3 NA Name=CTCF,Rad21,CTCF_(SC-5916) Name=19 NA rs35103872 0.01 0.01 0.006 0.0131789 0.001 NA 0.0072 0.0454 NA NA NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.835092 1.835092 NA NA NA NA NA NA 6.3323334 1019 3 152880401 152880401 A C UTR5 RAP2B NM_002886:c.-82A>C NA NA UTR5 ENSG00000181467 ENST00000323534:c.-82A>C NA NA NA NA 3q25.2 NA NA Name=87 NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.437408 2.437408 NA NA NA NA NA NA 6.3323334 1019 11 83501434 83501434 C T intronic DLG2 NA NA NA ncRNA_exonic ENSG00000254629 NA NA NA Score=762;Name=lod=1672 NA 11q14.1 NA NA NA NA NA NA NA NA 0.00339457 0.001 NA NA NA 0.0164 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037251 NA NA NA NA NA NA NA 6.3323333 1019 9 36169598 36169598 T C exonic CCIN NA synonymous SNV CCIN:NM_005893:exon1:c.T99C:p.S33S exonic ENSG00000185972 NA synonymous SNV ENSG00000185972:ENST00000335119:exon1:c.T99C:p.S33S Score=618;Name=lod=433 NA 9p13.3 Score=778;Name=V$HTF_01 NA NA NA rs3739609 0.46 0.46 0.474 0.501797 0.4473 0.503 0.2968 0.5923 0.5798 0.44 0.47 0.31 0.59 0.4405 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118709 NA NA 0.446977 0.579437 NA 0.493 NA 6.3318896 1019 1 111862074 111862074 C T exonic CHIA NA synonymous SNV CHIA:NM_001258002:exon7:c.C678T:p.L226L,CHIA:NM_021797:exon8:c.C837T:p.L279L,CHIA:NM_001040623:exon9:c.C678T:p.L226L,CHIA:NM_001258003:exon9:c.C837T:p.L279L,CHIA:NM_001258001:exon10:c.C837T:p.L279L,CHIA:NM_001258005:exon10:c.C678T:p.L226L,CHIA:NM_001258004:exon11:c.C678T:p.L226L,CHIA:NM_201653:exon11:c.C1161T:p.L387L exonic ENSG00000134216 NA synonymous SNV ENSG00000134216:ENST00000483391:exon7:c.C678T:p.L226L,ENSG00000134216:ENST00000422815:exon8:c.C993T:p.L331L,ENSG00000134216:ENST00000489524:exon8:c.C678T:p.L226L,ENSG00000134216:ENST00000353665:exon9:c.C678T:p.L226L,ENSG00000134216:ENST00000430615:exon9:c.C837T:p.L279L,ENSG00000134216:ENST00000343320:exon10:c.C1161T:p.L387L,ENSG00000134216:ENST00000451398:exon10:c.C678T:p.L226L,ENSG00000134216:ENST00000369740:exon11:c.C1161T:p.L387L NA NA 1p13.2 NA Name=MEF2A,NFKB NA NA rs2820092 0.14 0.14 0.139 0.17492 0.0994 0.0923 0.1037 0.354 0.1462 0.08 0.09 0.11 0.32 0.127 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129298 NA NA 0.108605 0.306627 NA 0.261 NA 6.3316616 1019 19 55143491 55143491 G T exonic LILRB1 NA nonsynonymous SNV LILRB1:NM_001081637:exon5:c.G464T:p.S155I,LILRB1:NM_001081638:exon5:c.G464T:p.S155I,LILRB1:NM_001081639:exon5:c.G464T:p.S155I,LILRB1:NM_006669:exon6:c.G464T:p.S155I exonic ENSG00000104972 NA nonsynonymous SNV ENSG00000104972:ENST00000396315:exon4:c.G464T:p.S155I,ENSG00000104972:ENST00000396317:exon4:c.G464T:p.S155I,ENSG00000104972:ENST00000396321:exon4:c.G464T:p.S155I,ENSG00000104972:ENST00000418536:exon4:c.G464T:p.S155I,ENSG00000104972:ENST00000421584:exon4:c.G464T:p.S155I,ENSG00000104972:ENST00000427581:exon4:c.G572T:p.S191I,ENSG00000104972:ENST00000448689:exon4:c.G464T:p.S155I,ENSG00000104972:ENST00000324602:exon5:c.G464T:p.S155I,ENSG00000104972:ENST00000396327:exon5:c.G464T:p.S155I,ENSG00000104972:ENST00000396332:exon5:c.G464T:p.S155I,ENSG00000104972:ENST00000434867:exon5:c.G464T:p.S155I,ENSG00000104972:ENST00000396331:exon6:c.G464T:p.S155I NA NA 19q13.42 NA NA NA NA rs1061681 0.4 0.4 0.409 0.45008 0.2783 0.5952 0.4755 0.5862 0.2751 0.24 0.53 0.4 0.49 0.3929 0.55 1 T 0.001 B 0.0 B 0.128 N 1.000 P -2.035 N 3.81 T -0.903 T 0.000 T 0.112 -2.381 0.004 0.317 -0.293 -0.921 2.438 -2.38126 NA 1 0.331047 0.550386 ID=COSM1396328;OCCURENCE=1(large_intestine) 0.536 NA 6.3310864 1019 5 43294192 43294192 C T exonic HMGCS1 NA synonymous SNV HMGCS1:NM_002130:exon7:c.G1149A:p.L383L,HMGCS1:NM_001098272:exon8:c.G1149A:p.L383L exonic ENSG00000112972 NA synonymous SNV ENSG00000112972:ENST00000433297:exon7:c.G1149A:p.L383L,ENSG00000112972:ENST00000325110:exon8:c.G1149A:p.L383L Score=426;Name=lod=72 NA 5p12 NA NA NA NA rs56257144 0.06 0.06 0.054 0.0607029 0.1173 0.002 0.0663 0.0227 0.1104 0.11 0.0035 0.07 0.02 0.0954 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.207511 NA NA 0.123023 0.037676 NA 0.029 NA 6.3309436 1019 19 41869392 41869392 T C exonic B9D2 NA nonsynonymous SNV B9D2:NM_030578:exon2:c.A33G:p.I11M exonic ENSG00000123810 NA nonsynonymous SNV ENSG00000123810:ENST00000243578:exon2:c.A33G:p.I11M,ENSG00000123810:ENST00000594416:exon2:c.A33G:p.I11M NA NA 19q13.2 Score=850;Name=V$GATA1_03 NA NA NA rs2241714 0.65 0.65 0.662 0.649561 0.675 0.4464 0.5461 0.8608 0.6207 0.68 0.48 0.59 0.85 0.655 0.85 0.11 T 0.001 B 0.005 B 0.063 N 0.000 P 1.725 L -0.44 T -1.030 T 0.000 T 0.036 1.538 11.1 -1.13 -0.144 -0.226 5.371 1.538474 1.538474 0.22 0.672791 0.825465 NA 0.696 NA 6.3305424 1019 1 43392690 43392690 C T UTR3 SLC2A1 NM_006516:c.*22G>A NA NA UTR3 ENSG00000117394 ENST00000426263:c.*22G>A NA NA Score=336;Name=lod=31 NA 1p34.2 NA NA Name=6 NA rs2229683 0.0009 0.0009 NA 0.000998403 0.002 NA 0.0014 0.0015 NA 0.0026 NA NA NA 0.0004 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.438387 1.438387 NA 0.000465 0 NA NA NA 6.3304684 1019 6 32548581 32548581 A G exonic HLA-DRB1 NA synonymous SNV HLA-DRB1:NM_002124:exon4:c.T705C:p.F235F exonic ENSG00000196126 NA synonymous SNV ENSG00000196126:ENST00000360004:exon4:c.T705C:p.F235F Score=376;Name=lod=45 NA 6p21.32 NA NA NA NA rs113175445 NA NA 0.259 NA NA NA NA NA NA NA NA NA NA 0.3363 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202899 NA NA NA NA ID=COSM150071;OCCURENCE=1(stomach) 0.022 NA 6.3303666 1019 6 168343838 168343838 T C exonic MLLT4 NA synonymous SNV MLLT4:NM_001207008:exon22:c.T3060C:p.Y1020Y,MLLT4:NM_001040000:exon23:c.T3108C:p.Y1036Y exonic ENSG00000130396 NA synonymous SNV ENSG00000130396:ENST00000344191:exon23:c.T3108C:p.Y1036Y,ENSG00000130396:ENST00000392108:exon23:c.T3108C:p.Y1036Y,ENSG00000130396:ENST00000392112:exon23:c.T3060C:p.Y1020Y,ENSG00000130396:ENST00000400822:exon23:c.T3105C:p.Y1035Y,ENSG00000130396:ENST00000447894:exon23:c.T3108C:p.Y1036Y,ENSG00000130396:ENST00000351017:exon24:c.T3129C:p.Y1043Y,ENSG00000130396:ENST00000366806:exon24:c.T3108C:p.Y1036Y Score=536;Name=lod=202 NA 6q27 Score=870;Name=V$CDC5_01 NA NA NA rs1132306 0.53 0.53 0.504 0.55631 0.4066 0.7927 0.5605 0.4138 0.6564 0.43 0.78 0.55 0.37 0.5047 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.242901 1.242901 NA 0.425233 0.418066 NA 0.413 NA 6.3301336 1019 6 10695198 10695198 A C UTR5 PAK1IP1 NM_017906:c.-21A>C NA NA UTR5 ENSG00000111845 ENST00000379568:c.-21A>C NA NA NA NA 6p24.2 NA Name=p300,USF-1,BHLHE40,NF-E2_(H-230),IRF1,CHD2_(N-1250),TBP,ELF1_(SC-631),NFKB,HEY1,Max,c-Myc,SRF,SIX5,Oct-2,PAX5-C20,YY1,Pol2,SP1,ATF3,Mxi1_(bHLH),HDAC2_(SC-6296),KAP1,MEF2A,Pol2-4H8,USF1_(SC-8983),E2F6,BRCA1_(C-1863),Sin3Ak-20,YY1_(C-20),BCLAF1_(M33-P5B11),SIRT6,TAF1,GATA-1,E2F6_(H-50),USF2,GABP,ELK4,POU2F2 Name=148 NA rs112419636 0.01 0.01 0.008 0.00978435 NA NA 0.0014 0.0363 NA NA NA 0.0028 0.02 0.003 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.787766 1.787766 NA 0.000233 0.028597 NA NA NA 6.3301004 1019 11 65168281 65168281 C T exonic FRMD8 NA synonymous SNV FRMD8:NM_031904:exon9:c.C1014T:p.F338F exonic ENSG00000126391 NA synonymous SNV ENSG00000126391:ENST00000355991:exon8:c.C846T:p.F282F,ENSG00000126391:ENST00000416776:exon8:c.C912T:p.F304F,ENSG00000126391:ENST00000317568:exon9:c.C1014T:p.F338F Score=540;Name=lod=209 NA 11q13.1 NA NA NA NA rs2073801 0.16 0.16 0.171 0.201278 0.0825 0.2024 0.1686 0.2163 0.3252 0.09 0.21 0.16 0.23 0.1513 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17511 NA NA 0.102862 0.185825 NA 0.13 NA 6.3300046 1019 16 55862836 55862836 G A exonic CES1 NA synonymous SNV CES1:NM_001025194:exon2:c.C100T:p.L34L,CES1:NM_001025195:exon2:c.C103T:p.L35L,CES1:NM_001266:exon2:c.C100T:p.L34L exonic ENSG00000198848 NA synonymous SNV ENSG00000198848:ENST00000360526:exon2:c.C103T:p.L35L,ENSG00000198848:ENST00000361503:exon2:c.C100T:p.L34L,ENSG00000198848:ENST00000422046:exon2:c.C100T:p.L34L Score=374;Name=lod=44 NA 16q12.2 NA NA NA NA rs3826191 NA NA 0.27 NA NA NA NA NA NA NA NA NA NA 0.3371 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67894 NA NA NA NA ID=COSM1378426;OCCURENCE=1(large_intestine) NA NA 6.3295666 1019 10 135086073 135086073 T C exonic ADAM8 NA nonsynonymous SNV ADAM8:NM_001164490:exon8:c.A605G:p.N202S,ADAM8:NM_001109:exon9:c.A722G:p.N241S,ADAM8:NM_001164489:exon9:c.A722G:p.N241S exonic ENSG00000151651 NA nonsynonymous SNV ENSG00000151651:ENST00000485491:exon8:c.A605G:p.N202S,ENSG00000151651:ENST00000415217:exon9:c.A722G:p.N241S,ENSG00000151651:ENST00000445355:exon9:c.A722G:p.N241S NA NA 10q26.3 NA NA NA NA rs143275708 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0007 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321908 1.321908 0.27 0.001279 0.000227 NA NA NA 6.3293544 1019 7 55268916 55268916 C T exonic EGFR NA synonymous SNV EGFR:NM_005228:exon25:c.C2982T:p.D994D exonic ENSG00000146648 NA synonymous SNV ENSG00000146648:ENST00000455089:exon24:c.C2847T:p.D949D,ENSG00000146648:ENST00000275493:exon25:c.C2982T:p.D994D,ENSG00000146648:ENST00000454757:exon25:c.C2823T:p.D941D Score=433;Name=lod=77 NA 7p11.2 NA NA NA NA rs2293347 0.14 0.14 0.11 0.141773 0.1113 0.247 0.1542 0.0129 0.2301 0.11 0.26 0.16 0.01 0.1337 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144905 NA NA 0.092442 0.027463 NA 0.065 NA 6.3292246 1019 14 89291027 89291027 G A UTR5 TTC8 NM_144596:c.-25G>A,NM_198309:c.-25G>A,NM_198310:c.-25G>A NA NA UTR5 ENSG00000165533 ENST00000556077:c.-25G>A,ENST00000553718:c.-25G>A,ENST00000345383:c.-25G>A,ENST00000536576:c.-32514G>A,ENST00000338104:c.-25G>A,ENST00000346301:c.-25G>A,ENST00000354441:c.-25G>A,ENST00000380656:c.-25G>A,ENST00000555057:c.-25G>A NA NA NA NA 14q31.3 NA Name=Sin3Ak-20,HA-E2F1,Pol2-4H8,ZNF263,RFX5_(N-494),Egr-1,YY1,TBP,c-Myc,ZBTB7A_(SC-34508),HEY1,TAF7_(SQ-8),YY1_(C-20),NRSF,Mxi1_(bHLH),Pol2,Pol2(phosphoS2),ETS1,TAF1,Max Name=148 NA rs7145692 0.0014 0.0014 NA 0.00279553 0.001 NA 0.0058 0.0068 NA NA NA 0.01 0.002 0.003 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497335 NA NA 0.000349 0.005925 NA NA NA 6.3289844 1019 10 127530325 127530325 T C exonic DHX32 NA synonymous SNV DHX32:NM_018180:exon7:c.A1530G:p.A510A exonic ENSG00000089876 NA synonymous SNV ENSG00000089876:ENST00000368721:exon4:c.A402G:p.A134A,ENSG00000089876:ENST00000284688:exon6:c.A1287G:p.A429A,ENSG00000089876:ENST00000284690:exon7:c.A1530G:p.A510A Score=483;Name=lod=123 NA 10q26.2 Score=894;Name=V$RFX1_02 NA NA NA rs3208565 0.43 0.43 0.435 0.454073 0.4443 0.3234 0.3487 0.5961 0.4816 0.44 0.33 0.37 0.57 0.4339 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086541 NA NA 0.459535 0.574671 ID=COSM147080;OCCURENCE=1(stomach) 0.464 NA 6.3289316 1019 1 78340788 78340788 T C UTR3 FAM73A NM_198549:c.*39T>C,NM_001270384:c.*39T>C NA NA UTR3 ENSG00000180488 ENST00000370791:c.*39T>C,ENST00000443751:c.*39T>C NA NA NA NA 1p31.1 NA Name=AP-2alpha,AP-2gamma,GR Name=65 NA rs377659984 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0023 0.0024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943657 NA NA 0.002442 0.000227 NA NA NA 6.3285914 1019 16 11969724 11969724 G C exonic GSPT1 NA synonymous SNV GSPT1:NM_001130006:exon14:c.C1752G:p.V584V,GSPT1:NM_001130007:exon14:c.C1341G:p.V447V,GSPT1:NM_002094:exon14:c.C1755G:p.V585V exonic ENSG00000103342 NA synonymous SNV ENSG00000103342:ENST00000563468:exon12:c.C1341G:p.V447V,ENSG00000103342:ENST00000420576:exon14:c.C1341G:p.V447V,ENSG00000103342:ENST00000434724:exon14:c.C1755G:p.V585V,ENSG00000103342:ENST00000439887:exon14:c.C1752G:p.V584V Score=701;Name=lod=942 NA 16p13.13 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs33657 0.62 0.62 0.66 0.650958 0.4394 0.7917 0.5461 0.7761 0.6288 0.43 0.85 0.52 0.71 0.503 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94583 NA NA 0.395751 0.701758 NA 0.659 NA 6.3285156 1019 20 60713311 60713311 G A exonic PSMA7 NA synonymous SNV PSMA7:NM_002792:exon5:c.C507T:p.R169R exonic ENSG00000101182 NA synonymous SNV ENSG00000101182:ENST00000370861:exon5:c.C297T:p.R99R,ENSG00000101182:ENST00000370873:exon5:c.C507T:p.R169R Score=569;Name=lod=274 NA 20q13.33 NA Name=Pol2 NA NA rs7076 0.65 0.65 0.635 0.598243 0.8032 0.7738 0.7392 0.143 0.7219 0.81 0.8 0.76 0.16 0.739 0.81 . . . . . . . . 0.000 P . . . . -1.013 T 0.000 T . -0.43 1.999 -1.69 -0.567 -0.355 6.494 -0.429897 NA NA 0.796977 0.254426 NA 0.58 NA 6.3274896 1019 1 151826095 151826095 A G UTR5 THEM5 NM_182578:c.-54T>C NA NA UTR5 ENSG00000196407 ENST00000368817:c.-54T>C NA NA NA NA 1q21.3 Score=908;Name=V$AP1FJ_Q2 Name=CEBPB,CTCF NA NA rs185055265 0.0023 0.0023 NA 0.00179712 0.006 NA 0.0043 NA NA 0.004 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821409 NA NA NA NA NA NA NA 6.3273334 1019 5 158743882 158743882 T C intronic IL12B NA NA NA ncRNA_intronic ENSG00000249738 NA NA NA NA NA 5q33.3 NA Name=CTCF,Rad21,YY1_(C-20),CTCF_(SC-5916),SMC3_(ab9263),FOXA1_(C-20),Znf143_(16618-1-AP) Name=139 NA rs191112662 0.0023 0.0023 NA 0.00199681 0.006 NA 0.0029 0.0015 NA 0.004 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447245 NA NA NA NA NA NA NA 6.3273333 1019 17 19645938 19645938 A C exonic ALDH3A1 NA nonsynonymous SNV ALDH3A1:NM_001135168:exon3:c.T400G:p.S134A,ALDH3A1:NM_000691:exon4:c.T400G:p.S134A,ALDH3A1:NM_001135167:exon4:c.T400G:p.S134A exonic ENSG00000108602 NA nonsynonymous SNV ENSG00000108602:ENST00000426645:exon3:c.T370G:p.S124A,ENSG00000108602:ENST00000457500:exon3:c.T400G:p.S134A,ENSG00000108602:ENST00000494157:exon3:c.T181G:p.S61A,ENSG00000108602:ENST00000225740:exon4:c.T400G:p.S134A,ENSG00000108602:ENST00000395555:exon4:c.T400G:p.S134A,ENSG00000108602:ENST00000439102:exon4:c.T400G:p.S134A,ENSG00000108602:ENST00000444455:exon4:c.T400G:p.S134A,ENSG00000108602:ENST00000468746:exon4:c.T400G:p.S134A NA NA 17p11.2 NA NA NA NA rs887241 0.73 0.73 0.731 0.744609 0.6441 0.9524 0.7334 0.6377 0.7863 0.64 0.94 0.71 0.64 0.7042 0.94 0.47 T 0.0 B 0.0 B 0.000 N 1.000 P -1.785 N -0.9 T -0.969 T 0.000 T 0.047 -1.697 0.011 3.64 0.396 0.629 7.060 -1.697205 NA 0.39 0.658605 0.642987 NA 0.703 NA 6.3264284 1019 15 90168693 90168693 T A exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon20:c.T5152A:p.S1718T exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon20:c.T5152A:p.S1718T,ENSG00000140534:ENST00000560985:exon20:c.T5149A:p.S1717T NA NA 15q26.1 NA NA NA NA rs1866928 0.36 0.36 0.373 0.385982 0.335 0.3968 0.3285 0.466 0.3599 0.34 0.35 0.31 0.43 0.3355 0.43 0.13 T 0.025 B 0.002 B 0.694 N 1.000 P -0.345 N 3.13 T -0.919 T 0.000 T 0.165 1.173 9.772 0.722 0.356 0.220 5.156 1.17302 NA 0.14 0.336823 0.4075 NA 0.355 NA 6.3260104 1019 17 4805186 4805186 C A UTR3 C17orf107 NM_001145536:c.*1358C>A NA NA UTR3 ENSG00000205710 ENST00000381365:c.*1358C>A NA NA NA NA 17p13.2 NA Name=STAT3 Name=28 NA rs59963145 0.01 0.01 0.012 0.0223642 NA NA 0.0029 0.0817 0.002 NA NA NA 0.06 0.0072 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.456359 1.456359 NA 0.000466 0.062215 NA 0.022 NA 6.3256674 1019 1 76251949 76251949 T A UTR5 RABGGTB NM_004582:c.-8T>A NA NA UTR5;UTR3 ENSG00000137955;ENSG00000117054 ENST00000535300:c.-5251T>A,ENST00000319942:c.-8T>A,ENST00000370826:c.-8T>A;ENST00000528016:c.*253T>A NA NA NA NA 1p31.1 NA Name=Pol2,PU.1,RFX5_(N-494),NRSF,Ini1,Pol2(phosphoS2),YY1,YY1_(C-20),Sin3Ak-20,TAF7_(SQ-8),KAP1,MEF2A,Pol2-4H8,Pol2(b),TAF1,WHIP,POU2F2,p300_(N-15),GTF2B,TCF12,Nrf1,TBP,GTF2F1_(RAP-74),ELF1_(SC-631),Rad21,HEY1,NFKB,Oct-2 Name=148 NA rs141344826 0.01 0.01 0.005 0.00399361 0.003 NA 0.0072 0.0068 0.0031 0.004 NA 0.01 0.01 0.0028 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.836164 NA NA 0.001977 0.008625 NA 0.014 NA 6.3255564 1019 10 77160151 77160151 G C intronic ZNF503 NA NA NA ncRNA_intronic ENSG00000270087 NA NA NA NA NA 10q22.2 NA NA Name=18 NA NA NA NA NA 0.00179712 0.005 NA 0.0058 NA NA NA NA NA NA 0.0032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.955362 1.955362 NA NA NA NA NA NA 6.3251333 1020 3 95374182 95374182 T C ncRNA_exonic LOC100287639 NA NA NA ncRNA_exonic ENSG00000244681 NA NA NA Score=490;Name=lod=131 NA 3q11.2 NA NA Name=4 NA rs6767658 0.27 0.27 0.24 0.263978 0.3419 0.2569 0.1671 0.2526 0.2751 0.32 0.26 0.18 0.24 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102623 NA NA NA NA NA 0.297 NA 6.3247666 1020 3 191074873 191074873 C G intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 Score=833;Name=V$GFI1_01 Name=AP-2gamma,Rad21,c-Fos Name=89 NA rs188384 0.74 0.74 0.761 0.770966 0.5408 0.9157 0.6974 0.9191 0.7106 0.54 0.92 0.67 0.9 0.6259 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789424 NA NA 0.508605 0.846119 NA 0.659 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041445.1;CLNDSDB=.;CLNDSDBID=. 6.324695 1020 18 72344238 72344238 C T exonic ZNF407 NA synonymous SNV ZNF407:NM_001146189:exon1:c.C1263T:p.L421L,ZNF407:NM_001146190:exon1:c.C1263T:p.L421L,ZNF407:NM_017757:exon1:c.C1263T:p.L421L exonic ENSG00000215421 NA synonymous SNV ENSG00000215421:ENST00000299687:exon1:c.C1263T:p.L421L,ENSG00000215421:ENST00000309902:exon1:c.C1263T:p.L421L,ENSG00000215421:ENST00000577538:exon1:c.C1263T:p.L421L,ENSG00000215421:ENST00000582337:exon2:c.C1263T:p.L421L NA NA 18q22.3 NA NA NA NA rs17817969 0.08 0.08 0.082 0.0678914 0.1064 0.002 0.0663 0.112 0.0378 0.12 NA 0.07 0.12 0.0967 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.766298 1.766298 NA 0.138923 0.102926 NA 0.072 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118931.2;CLNDSDB=.;CLNDSDBID=. 6.3246436 1020 7 140051091 140051091 G A exonic SLC37A3 NA synonymous SNV SLC37A3:NM_032295:exon9:c.C864T:p.C288C,SLC37A3:NM_207113:exon9:c.C864T:p.C288C exonic ENSG00000157800 NA synonymous SNV ENSG00000157800:ENST00000326232:exon9:c.C864T:p.C288C,ENSG00000157800:ENST00000340308:exon9:c.C864T:p.C288C,ENSG00000157800:ENST00000447932:exon9:c.C864T:p.C288C Score=464;Name=lod=103 NA 7q34 NA NA NA NA rs12703775 0.4 0.4 0.385 0.382188 0.4553 0.4137 0.3703 0.3026 0.3906 0.46 0.4 0.4 0.31 0.4294 0.46 . . . . . . . . 0.000 P . . . . -0.913 T 0.000 T . 1.111 9.531 1.4 0.035 0.753 9.311 1.110842 NA NA 0.457442 0.329324 ID=COSM150403;OCCURENCE=1(stomach) 0.457 NA 6.3245246 1020 16 67203777 67203777 G T UTR3 HSF4 NM_001040667:c.*89G>T,NM_001538:c.*89G>T NA NA UTR3 ENSG00000102878 ENST00000421453:c.*89G>T,ENST00000264009:c.*89G>T,ENST00000522295:c.*820G>T,ENST00000434833:c.*516G>T,ENST00000521314:c.*1315G>T,ENST00000523562:c.*798G>T,ENST00000521624:c.*312G>T,ENST00000584272:c.*89G>T,ENST00000520528:c.*636G>T,ENST00000520304:c.*73G>T,ENST00000521916:c.*147G>T NA NA NA NA 16q22.1 NA Name=CTCF_(C-20),ZBTB7A_(SC-34508),HDAC2_(SC-6296),CTCF_(SC-5916),YY1,Rad21,CTCF,CTCFL_(SC-98982),YY1_(C-20),SMC3_(ab9263) Name=43 NA rs11642409 0.0032 0.0032 0.002 0.00219649 0.0089 NA 0.0014 0.0008 NA 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.306148 2.306148 NA NA NA NA NA NA 6.3244334 1020 18 72344553 72344553 G A exonic ZNF407 NA synonymous SNV ZNF407:NM_001146189:exon1:c.G1578A:p.T526T,ZNF407:NM_001146190:exon1:c.G1578A:p.T526T,ZNF407:NM_017757:exon1:c.G1578A:p.T526T exonic ENSG00000215421 NA synonymous SNV ENSG00000215421:ENST00000299687:exon1:c.G1578A:p.T526T,ENSG00000215421:ENST00000309902:exon1:c.G1578A:p.T526T,ENSG00000215421:ENST00000577538:exon1:c.G1578A:p.T526T,ENSG00000215421:ENST00000582337:exon2:c.G1578A:p.T526T NA NA 18q22.3 NA NA NA NA rs7227391 0.08 0.08 0.091 0.0680911 0.1064 0.003 0.0663 0.112 0.0378 0.12 0.0017 0.07 0.12 0.0972 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018328 NA NA 0.139002 0.10005 NA 0.072 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118933.2;CLNDSDB=.;CLNDSDBID=. 6.3240646 1020 17 45759767 45759767 C T intronic KPNB1 NA NA NA intronic ENSG00000108424 NA NA NA Score=722;Name=lod=1151 NA 17q21.32 Score=802;Name=V$RSRFC4_01 Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs7223246 0.23 0.23 0.243 0.281749 0.2286 0.0883 0.1369 0.562 0.2597 0.22 0.09 0.16 0.47 0.2231 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.347616 1.347616 NA 0.225 0.479346 NA 0.21 NA 6.3233 1020 8 128748744 128748744 C T UTR5 MYC NM_002467:c.-96C>T NA NA UTR5 ENSG00000136997 ENST00000259523:c.-1765C>T,ENST00000517291:c.-96C>T,ENST00000377970:c.-96C>T,ENST00000524013:c.-96C>T,ENST00000520751:c.-1799C>T NA NA NA NA 8q24.21 NA Name=Pol2(phosphoS2),Pol2,CtBP2,ZNF263,Pol2-4H8,Pol2(b) Name=4 NA rs4645949 0.01 0.01 0.002 0.00439297 0.0109 NA 0.0159 NA NA 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.902074 1.902074 NA NA NA NA 0.007 NA 6.3224334 1020 9 134020092 134020092 C T exonic NUP214 NA nonsynonymous SNV NUP214:NM_005085:exon12:c.C1720T:p.P574S exonic ENSG00000126883 NA nonsynonymous SNV ENSG00000126883:ENST00000359428:exon12:c.C1720T:p.P574S,ENSG00000126883:ENST00000411637:exon12:c.C1720T:p.P574S,ENSG00000126883:ENST00000451030:exon12:c.C1720T:p.P574S Score=251;Name=lod=14 NA 9q34.13 NA NA NA NA rs103612 0.67 0.67 0.639 0.641973 0.6779 0.627 0.7522 0.6626 0.5143 0.68 0.63 0.74 0.63 0.6641 0.74 0.57 T 0.013 B 0.007 B 0.480 N 0.000 P 0 N 1.51 T -0.996 T 0.000 T 0.148 0.999 9.078 1.78 0.816 -0.048 5.346 0.99854 NA 0.13 0.668953 0.66818 NA 0.58 NA 6.3223804 1020 3 178952181 178952181 T C UTR3 PIK3CA NM_006218:c.*29T>C NA NA UTR3 ENSG00000121879 ENST00000263967:c.*29T>C NA NA NA NA 3q26.32 NA Name=CEBPB Name=24 NA rs141178472 0.0018 0.0018 0.003 0.000599042 0.003 NA NA NA NA 0.01 NA NA NA 0.0029 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654334 NA NA 0.005569 0.001058 ID=COSM249908;OCCURENCE=1(pancreas),2(large_intestine) NA NA 6.3218644 1020 11 77378388 77378388 T C exonic RSF1 NA synonymous SNV RSF1:NM_016578:exon16:c.A3900G:p.L1300L exonic ENSG00000048649 NA synonymous SNV ENSG00000048649:ENST00000480887:exon11:c.A3144G:p.L1048L,ENSG00000048649:ENST00000360355:exon15:c.A3807G:p.L1269L,ENSG00000048649:ENST00000308488:exon16:c.A3900G:p.L1300L Score=588;Name=lod=327 NA 11q14.1 NA NA NA NA rs4945197 0.19 0.19 0.174 0.196286 0.0984 0.1736 0.2147 0.329 0.1278 0.1 0.19 0.19 0.35 0.15 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01527 NA NA 0.096808 0.303409 ID=COSM147293;OCCURENCE=1(stomach) 0.225 NA 6.3214586 1020 6 151336739 151336739 C G exonic MTHFD1L NA synonymous SNV MTHFD1L:NM_001242767:exon24:c.C2499G:p.S833S,MTHFD1L:NM_001242768:exon24:c.C2301G:p.S767S,MTHFD1L:NM_015440:exon24:c.C2496G:p.S832S exonic ENSG00000120254 NA synonymous SNV ENSG00000120254:ENST00000420192:exon2:c.C189G:p.S63S,ENSG00000120254:ENST00000367321:exon24:c.C2496G:p.S832S NA NA 6q25.1 NA Name=TCF4 Name=29 NA rs509474 0.59 0.59 0.618 0.570288 0.4374 0.6766 0.4726 0.8585 0.2771 0.41 0.67 0.46 0.87 0.4606 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8617 NA NA 0.447209 0.795279 NA 0.536 NA 6.3214576 1020 12 21715989 21715989 C T intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA Score=443;Name=lod=84 NA 12p12.1 NA Name=GR,FOXA2_(SC-6554),FOXA1_(SC-101058),p300,SP1,TCF4,HNF4A_(H-171),FOXA1_(C-20),FOSL2,HDAC2_(SC-6296) Name=4 NA rs8192697 0.2 0.2 0.176 0.176518 0.2386 0.2827 0.1787 0.0469 0.1769 0.23 0.27 0.21 0.04 0.2087 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266011 NA NA 0.231395 0.0867 NA 0.174 NA 6.321305 1020 11 77378505 77378505 A G exonic RSF1 NA synonymous SNV RSF1:NM_016578:exon16:c.T3783C:p.D1261D exonic ENSG00000048649 NA synonymous SNV ENSG00000048649:ENST00000480887:exon11:c.T3027C:p.D1009D,ENSG00000048649:ENST00000360355:exon15:c.T3690C:p.D1230D,ENSG00000048649:ENST00000308488:exon16:c.T3783C:p.D1261D Score=573;Name=lod=285 NA 11q14.1 NA NA NA NA rs28930682 0.19 0.19 0.178 0.196286 0.0984 0.1736 0.2147 0.329 0.1278 0.1 0.19 0.19 0.35 0.1512 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293024 NA NA 0.095876 0.301591 NA 0.225 NA 6.3211906 1020 1 185171869 185171869 A G exonic SWT1 NA nonsynonymous SNV SWT1:NM_001105518:exon11:c.A1607G:p.H536R,SWT1:NM_017673:exon11:c.A1607G:p.H536R exonic ENSG00000116668 NA nonsynonymous SNV ENSG00000116668:ENST00000367500:exon11:c.A1607G:p.H536R,ENSG00000116668:ENST00000367501:exon11:c.A1607G:p.H536R NA NA 1q25.3 NA NA NA NA rs6698109 0.28 0.28 0.27 0.275559 0.341 0.1964 0.2464 0.2179 0.3885 0.34 0.24 0.24 0.26 0.3183 0.35 0.38 T 0.0 B 0.0 B 0.056 N 1.000 P 0 N 2.34 T -0.896 T 0.000 T 0.023 0.685 7.659 -0.036 -0.187 0.715 4.889 0.684572 NA 0.21 0.353256 0.24739 NA 0.297 NA 6.3207774 1020 17 12898295 12898295 T C exonic ELAC2 NA synonymous SNV ELAC2:NM_001165962:exon19:c.A1773G:p.T591T,ELAC2:NM_018127:exon20:c.A1893G:p.T631T,ELAC2:NM_173717:exon20:c.A1890G:p.T630T exonic ENSG00000006744 NA synonymous SNV ENSG00000006744:ENST00000426905:exon19:c.A1773G:p.T591T,ENSG00000006744:ENST00000338034:exon20:c.A1893G:p.T631T,ENSG00000006744:ENST00000395962:exon20:c.A1836G:p.T612T NA NA 17p12 Score=828;Name=V$MAX_01 NA NA NA rs17552022 0.05 0.05 0.051 0.0503195 0.1203 0.001 0.0793 0.0053 0.0695 0.11 NA 0.07 0.01 0.0992 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115234 NA NA 0.127326 0.022469 NA 0.058 NA 6.3198406 1020 4 90647702 90647702 G T UTR3 SNCA NM_001146054:c.*77C>A,NM_000345:c.*77C>A,NM_001146055:c.*77C>A,NM_007308:c.*77C>A NA NA UTR3 ENSG00000145335 ENST00000420646:c.*77C>A,ENST00000394989:c.*77C>A,ENST00000345009:c.*77C>A,ENST00000336904:c.*77C>A,ENST00000394991:c.*77C>A,ENST00000394986:c.*77C>A,ENST00000508895:c.*77C>A NA NA Score=528;Name=lod=187 NA 4q22.1 Score=766;Name=V$TCF11MAFG_01 NA NA NA rs145304567 0.0037 0.0037 0.001 0.00299521 0.008 NA 0.0072 0.0015 NA 0.004 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.543296 4.543296 NA 0.005971 0.000723 NA NA NA 6.3193624 1020 7 36446121 36446121 A G exonic ANLN NA synonymous SNV ANLN:NM_018685:exon4:c.A819G:p.L273L exonic ENSG00000011426 NA synonymous SNV ENSG00000011426:ENST00000429082:exon1:c.A111G:p.L37L,ENSG00000011426:ENST00000265748:exon4:c.A819G:p.L273L,ENSG00000011426:ENST00000396068:exon4:c.A819G:p.L273L NA NA 7p14.2 NA NA Name=37 NA rs3735398 0.11 0.11 0.095 0.115615 0.1034 0.1786 0.1657 0.0522 0.1135 0.12 0.16 0.13 0.04 0.1307 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433182 NA NA 0.113605 0.067181 NA 0.145 NA 6.3189616 1020 20 56190634 56190634 C T exonic ZBP1 NA nonsynonymous SNV ZBP1:NM_001160418:exon2:c.G37A:p.E13K,ZBP1:NM_001160417:exon3:c.G262A:p.E88K,ZBP1:NM_001160419:exon3:c.G262A:p.E88K,ZBP1:NM_030776:exon3:c.G262A:p.E88K exonic ENSG00000124256 NA nonsynonymous SNV ENSG00000124256:ENST00000395822:exon2:c.G37A:p.E13K,ENSG00000124256:ENST00000343535:exon3:c.G262A:p.E88K,ENSG00000124256:ENST00000371173:exon3:c.G262A:p.E88K,ENSG00000124256:ENST00000541799:exon3:c.G262A:p.E88K NA Name=Hippocampal atrophy 20q13.31 NA NA NA NA rs2073145 0.58 0.58 0.536 0.604633 0.6441 0.745 0.7205 0.2216 0.8548 0.66 0.73 0.68 0.2 0.6861 0.73 0.13 T 0.113 B 0.006 B 0.325 N 1.000 P 0.205 N 2.9 T -0.983 T 0.000 T 0.099 0.561 7.034 -1.1 -0.152 -0.396 3.246 0.561172 NA 0.06 0.684419 0.311621 NA 0.601 NA 6.3187144 1020 16 2367336 2367336 G A exonic ABCA3 NA synonymous SNV ABCA3:NM_001089:exon10:c.C1059T:p.F353F exonic ENSG00000167972 NA synonymous SNV ENSG00000167972:ENST00000301732:exon10:c.C1059T:p.F353F,ENSG00000167972:ENST00000382381:exon10:c.C1059T:p.F353F Score=325;Name=lod=28 NA 16p13.3 NA NA NA NA rs13332514 0.19 0.19 0.152 0.192692 0.0934 0.372 0.3228 0.0764 0.1748 0.09 0.35 0.3 0.08 0.1572 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290889 NA NA 0.098488 0.087125 NA 0.167 NA 6.3175786 1020 2 80101321 80101321 T G exonic CTNNA2 NA synonymous SNV CTNNA2:NM_001164883:exon6:c.T705G:p.A235A,CTNNA2:NM_004389:exon6:c.T705G:p.A235A exonic ENSG00000066032 NA synonymous SNV ENSG00000066032:ENST00000402739:exon5:c.T705G:p.A235A,ENSG00000066032:ENST00000540488:exon5:c.T705G:p.A235A,ENSG00000066032:ENST00000541047:exon5:c.T705G:p.A235A,ENSG00000066032:ENST00000361291:exon6:c.T807G:p.A269A,ENSG00000066032:ENST00000496558:exon6:c.T705G:p.A235A,ENSG00000066032:ENST00000466387:exon10:c.T705G:p.A235A Score=381;Name=lod=47 NA 2p12 NA NA NA NA rs61291641 0.28 0.28 0.246 0.280152 0.0835 0.4425 0.4193 0.2799 0.2168 0.09 0.44 0.37 0.31 0.1898 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.217414 NA NA 0.076285 0.219171 NA 0.261 NA 6.3170816 1020 12 56531154 56531154 T C exonic ESYT1 NA synonymous SNV ESYT1:NM_001184796:exon17:c.T1965C:p.T655T,ESYT1:NM_015292:exon17:c.T1935C:p.T645T exonic ENSG00000139641 NA synonymous SNV ENSG00000139641:ENST00000267113:exon17:c.T1965C:p.T655T,ENSG00000139641:ENST00000394048:exon17:c.T1935C:p.T645T,ENSG00000139641:ENST00000541590:exon17:c.T1965C:p.T655T Score=463;Name=lod=102 NA 12q13.2 NA NA NA NA rs2271192 0.16 0.16 0.162 0.184904 0.1153 0.0208 0.1081 0.4879 0.0706 0.12 0.03 0.1 0.44 0.1253 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376104 NA NA 0.109302 0.417839 NA 0.21 NA 6.3167646 1020 9 90321583 90321583 C T exonic DAPK1 NA synonymous SNV DAPK1:NM_004938:exon26:c.C3597T:p.R1199R exonic ENSG00000196730 NA synonymous SNV ENSG00000196730:ENST00000491893:exon24:c.C3399T:p.R1133R,ENSG00000196730:ENST00000358077:exon26:c.C3597T:p.R1199R,ENSG00000196730:ENST00000408954:exon26:c.C3597T:p.R1199R,ENSG00000196730:ENST00000472284:exon26:c.C3597T:p.R1199R,ENSG00000196730:ENST00000469640:exon27:c.C3672T:p.R1224R Score=444;Name=lod=85 NA 9q21.33 Score=915;Name=V$AREB6_03 NA NA NA rs3118863 0.37 0.37 0.349 0.356629 0.4553 0.4107 0.402 0.121 0.4857 0.47 0.42 0.41 0.13 0.4399 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387287 NA NA 0.454759 0.179197 NA 0.319 NA 6.3167076 1020 12 124281322 124281322 T C exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon12:c.T1752C:p.H584H exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon12:c.T1752C:p.H584H Score=423;Name=lod=70 NA 12q24.31 NA NA NA NA rs76791219 0.17 0.17 0.173 0.180112 0.1093 0.0476 0.1196 0.4463 0.0726 0.11 0.06 0.15 0.4 0.1321 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734368 NA NA 0.108605 0.410576 NA 0.174 NA 6.3166616 1020 7 43843423 43843423 G A exonic BLVRA NA synonymous SNV BLVRA:NM_000712:exon7:c.G609A:p.V203V,BLVRA:NM_001253823:exon8:c.G609A:p.V203V exonic ENSG00000106605 NA synonymous SNV ENSG00000106605:ENST00000265523:exon7:c.G609A:p.V203V,ENSG00000106605:ENST00000402924:exon8:c.G609A:p.V203V Score=517;Name=lod=169 NA 7p13 NA NA NA NA rs1131372 0.1 0.1 0.089 0.0898562 0.1223 0.0804 0.1657 0.053 0.0624 0.12 0.1 0.15 0.06 0.1175 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083761 NA NA 0.110349 0.054698 ID=COSM150275;OCCURENCE=1(stomach) 0.08 NA 6.3165176 1020 14 58831142 58831142 A G exonic ARID4A NA nonsynonymous SNV ARID4A:NM_002892:exon20:c.A2335G:p.T779A,ARID4A:NM_023000:exon20:c.A2335G:p.T779A,ARID4A:NM_023001:exon20:c.A2335G:p.T779A exonic ENSG00000032219 NA nonsynonymous SNV ENSG00000032219:ENST00000417477:exon10:c.A1369G:p.T457A,ENSG00000032219:ENST00000431317:exon19:c.A2335G:p.T779A,ENSG00000032219:ENST00000348476:exon20:c.A2335G:p.T779A,ENSG00000032219:ENST00000355431:exon20:c.A2335G:p.T779A,ENSG00000032219:ENST00000395168:exon20:c.A2335G:p.T779A NA NA 14q23.1 NA NA NA NA rs1051858 0.38 0.38 0.357 0.349441 0.34 0.5169 0.2291 0.3434 0.2802 0.37 0.53 0.27 0.32 0.3469 0.53 0.73 T 0.0 B 0.001 B 0.175 N 1.000 P -0.55 N 2.59 T -0.927 T 0.000 T 0.17 -0.779 0.733 1.52 -0.195 -0.111 2.154 -0.779318 NA 0.82 0.33042 0.341962 NA 0.312 NA 6.3160134 1020 1 35816593 35816593 T G intronic ZMYM4 NA NA NA ncRNA_exonic ENSG00000229994 NA NA NA Score=780;Name=lod=1972 NA 1p34.3 NA NA Name=3 NA rs116667198 0.07 0.07 0.068 0.0960463 0.0179 0.0923 0.0202 0.1944 0.1012 0.02 0.06 0.02 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169663 NA NA NA NA NA 0.058 NA 6.3154333 1020 15 42720288 42720288 G C exonic ZNF106 NA synonymous SNV ZNF106:NM_022473:exon12:c.C4857G:p.L1619L exonic ENSG00000103994 NA synonymous SNV ENSG00000103994:ENST00000569648:exon1:c.C15G:p.L5L,ENSG00000103994:ENST00000565611:exon11:c.C2412G:p.L804L,ENSG00000103994:ENST00000263805:exon12:c.C4857G:p.L1619L,ENSG00000103994:ENST00000565380:exon13:c.C2541G:p.L847L Score=550;Name=lod=229 NA 15q15.1 NA NA NA NA rs11544099 0.06 0.06 0.065 0.0521166 0.1173 0.006 0.0735 0.0431 0.0297 0.11 NA 0.08 0.04 0.0961 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964299 NA NA 0.138172 0.058557 NA 0.087 NA 6.3150946 1021 11 118949277 118949277 C G exonic VPS11 NA unknown UNKNOWN exonic ENSG00000160695 NA synonymous SNV ENSG00000160695:ENST00000300793:exon13:c.C1923G:p.V641V Score=568;Name=lod=271 NA 11q23.3 NA NA NA NA rs36008744 0.04 0.04 0.054 0.0383387 0.005 NA 0.0216 0.1301 NA 0.01 NA 0.01 0.17 0.0111 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443423 1.443423 NA 0.002294 0.111053 NA 0.043 NA 6.3149393 1021 8 22054197 22054197 T C exonic BMP1 NA synonymous SNV BMP1:NM_001199:exon14:c.T1770C:p.A590A,BMP1:NM_006129:exon14:c.T1770C:p.A590A exonic ENSG00000168487 NA synonymous SNV ENSG00000168487:ENST00000306349:exon14:c.T1770C:p.A590A,ENSG00000168487:ENST00000306385:exon14:c.T1770C:p.A590A,ENSG00000168487:ENST00000397816:exon14:c.T1770C:p.A590A,ENSG00000168487:ENST00000520970:exon14:c.T1770C:p.A590A,ENSG00000168487:ENST00000521385:exon14:c.T1770C:p.A590A Score=474;Name=lod=113 NA 8p21.3 NA NA NA NA rs2229777 0.14 0.14 0.128 0.129992 0.1292 0.1806 0.0735 0.118 0.135 0.13 0.18 0.08 0.13 0.1176 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851605 NA NA 0.105349 0.112347 NA 0.087 NA 6.3145176 1021 2 75113657 75113657 C T exonic HK2 NA synonymous SNV HK2:NM_000189:exon15:c.C2076T:p.N692N exonic ENSG00000159399 NA synonymous SNV ENSG00000159399:ENST00000290573:exon15:c.C2076T:p.N692N,ENSG00000159399:ENST00000409174:exon15:c.C1992T:p.N664N Score=601;Name=lod=368 NA 2p12 Score=795;Name=V$TAXCREB_02 NA NA NA rs2229626 0.5 0.5 0.54 0.511581 0.4662 0.4077 0.3458 0.7451 0.4673 0.47 0.42 0.39 0.72 0.4512 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229854 NA NA 0.435 0.68611 NA 0.486 NA 6.3142666 1021 7 141955128 141955128 C T exonic PRSS58 NA synonymous SNV PRSS58:NM_001001317:exon4:c.G183A:p.K61K exonic ENSG00000258223 NA synonymous SNV ENSG00000258223:ENST00000552471:exon3:c.G183A:p.K61K,ENSG00000258223:ENST00000547058:exon4:c.G183A:p.K61K NA NA 7q34 NA Name=JunD NA NA rs1894317 0.18 0.18 0.171 0.199681 0.1044 0.1409 0.2565 0.3359 0.1339 0.09 0.14 0.26 0.31 0.1473 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183647 NA NA 0.100814 0.330458 NA 0.261 NA 6.3141526 1021 19 49994372 49994372 C T ncRNA_intronic RPL13AP5 NA NA NA intronic ENSG00000142541 NA NA NA NA NA 19q13.33 NA Name=Pol2(b),Pol2-4H8,HEY1,Pol2 Name=8 NA rs117864235 0.0027 0.0027 0.005 0.00259585 0.007 NA 0.0043 0.0008 0.002 0.01 NA 0.0028 NA 0.0051 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097087 NA NA 0.007442 0.002043 NA NA NA 6.3137913 1021 1 248128929 248128929 G A exonic OR2AK2 NA nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.G296A:p.S99N exonic ENSG00000187080 NA nonsynonymous SNV ENSG00000187080:ENST00000366480:exon1:c.G296A:p.S99N NA NA 1q44 NA NA NA NA rs6664332 0.36 0.36 0.351 0.371605 0.328 0.4633 0.3646 0.2882 0.4397 0.33 0.44 0.39 0.27 0.3578 0.44 0.8 T 0.0 B 0.0 B . . 1.000 P -1.62 N 5.3 T -1.037 T 0.000 T 0.011 -1.794 0.01 1.92 -0.026 0.001 2.748 -1.7943 NA 1 0.333953 0.29074 NA 0.246 NA 6.3135804 1021 X 153693811 153693811 C T exonic PLXNA3 NA synonymous SNV PLXNA3:NM_017514:exon12:c.C2289T:p.F763F exonic ENSG00000130827 NA synonymous SNV ENSG00000130827:ENST00000369682:exon12:c.C2289T:p.F763F Score=516;Name=lod=167 NA Xq28 NA NA NA NA rs5945429 0.29 0.29 0.32353 NA NA NA NA NA NA 0.12 0.13 0.11 0.87 0.2214 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896762 NA NA 0.132432 0.790613 NA 0.261 NA 6.3128346 1021 6 155774608 155774608 C T exonic NOX3 NA synonymous SNV NOX3:NM_015718:exon4:c.G270A:p.P90P exonic ENSG00000074771 NA synonymous SNV ENSG00000074771:ENST00000159060:exon4:c.G270A:p.P90P Score=508;Name=lod=155 NA 6q25.3 NA NA NA NA rs34960420 0.12 0.12 0.111 0.127396 0.1044 0.1121 0.2291 0.1059 0.1237 0.09 0.11 0.19 0.09 0.1373 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.272057 1.272057 NA 0.112558 0.1069 NA 0.109 NA 6.3124086 1021 1 227216662 227216662 T C exonic CDC42BPA NA synonymous SNV CDC42BPA:NM_014826:exon28:c.A3780G:p.K1260K,CDC42BPA:NM_003607:exon29:c.A4023G:p.K1341K exonic ENSG00000143776 NA synonymous SNV ENSG00000143776:ENST00000366764:exon28:c.A3939G:p.K1313K,ENSG00000143776:ENST00000366767:exon28:c.A3780G:p.K1260K,ENSG00000143776:ENST00000334218:exon29:c.A4023G:p.K1341K,ENSG00000143776:ENST00000366769:exon29:c.A4023G:p.K1341K,ENSG00000143776:ENST00000535525:exon29:c.A3963G:p.K1321K,ENSG00000143776:ENST00000366765:exon30:c.A4062G:p.K1354K,ENSG00000143776:ENST00000366766:exon30:c.A4128G:p.K1376K Score=589;Name=lod=329 NA 1q42.13 NA NA NA NA rs1929861 0.46 0.46 0.445 0.404353 0.4652 0.4038 0.4179 0.4796 0.2311 0.47 0.43 0.41 0.5 0.4318 0.61 . . . . . . . . 0.000 P . . . . -0.906 T 0.000 T . 0.668 7.579 1.38 -0.114 0.685 11.203 0.668292 NA NA 0.457326 0.46709 NA 0.507 NA 6.3123406 1021 6 49931783 49931783 A G exonic DEFB114 NA synonymous SNV DEFB114:NM_001037499:exon1:c.T36C:p.Y12Y exonic ENSG00000177684 NA synonymous SNV ENSG00000177684:ENST00000322066:exon1:c.T36C:p.Y12Y Score=343;Name=lod=33 NA 6p12.3 NA NA NA NA rs73737276 0.08 0.08 0.059 0.0664936 0.1282 0.0079 0.0692 0.0522 0.0808 0.13 0.01 0.09 0.06 0.0977 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377376 NA NA 0.128435 0.066303 NA 0.029 NA 6.3123316 1021 7 43830888 43830888 T C exonic BLVRA NA synonymous SNV BLVRA:NM_000712:exon4:c.T175C:p.L59L,BLVRA:NM_001253823:exon5:c.T175C:p.L59L exonic ENSG00000106605 NA synonymous SNV ENSG00000106605:ENST00000265523:exon4:c.T175C:p.L59L,ENSG00000106605:ENST00000424330:exon4:c.T175C:p.L59L,ENSG00000106605:ENST00000402924:exon5:c.T175C:p.L59L Score=474;Name=lod=113 NA 7p13 NA NA NA NA rs1802846 0.12 0.12 0.105 0.105831 0.1213 0.0804 0.1671 0.1127 0.0634 0.12 0.1 0.15 0.13 0.1225 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167787 NA NA 0.110814 0.10463 ID=COSM150274;OCCURENCE=1(stomach) 0.072 NA 6.3120526 1021 15 80872608 80872608 T C intronic ARNT2 NA NA NA ncRNA_exonic ENSG00000270919 NA NA NA NA NA 15q25.1 NA Name=BAF155,AP-2gamma,STAT3,c-Jun,AP-2alpha,JunD Name=98 NA rs4778826 0.12 0.12 0.133 0.140375 0.0219 0.1141 0.0288 0.3321 0.1094 0.02 0.15 0.04 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205052 NA NA NA NA NA 0.13 NA 6.3114333 1021 14 39871017 39871017 T C exonic FBXO33 NA synonymous SNV FBXO33:NM_203301:exon3:c.A759G:p.K253K exonic ENSG00000165355 NA synonymous SNV ENSG00000165355:ENST00000298097:exon3:c.A759G:p.K253K Score=674;Name=lod=728 NA 14q21.1 NA NA NA NA rs7156962 0.16 0.16 0.16 0.176717 0.1213 0.0724 0.0879 0.3457 0.1759 0.13 0.08 0.08 0.36 0.1315 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485539 NA NA 0.102791 0.333636 NA 0.203 NA 6.3110756 1021 16 28603012 28603012 A G exonic CCDC101 NA synonymous SNV CCDC101:NM_138414:exon10:c.A867G:p.E289E exonic ENSG00000176476 NA synonymous SNV ENSG00000176476:ENST00000317058:exon10:c.A867G:p.E289E Score=637;Name=lod=517 NA 16p11.2 NA NA NA NA rs3194168 0.08 0.08 0.073 0.077476 0.1233 0.004 0.1037 0.0794 0.0849 0.11 0.01 0.12 0.1 0.0999 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931389 NA NA 0.132558 0.084433 NA 0.072 NA 6.3109086 1021 19 580388 580388 C G exonic BSG NA synonymous SNV BSG:NM_198591:exon2:c.C42G:p.S14S,BSG:NM_198589:exon3:c.C234G:p.S78S,BSG:NM_001728:exon4:c.C582G:p.S194S exonic ENSG00000172270 NA synonymous SNV ENSG00000172270:ENST00000346916:exon2:c.C42G:p.S14S,ENSG00000172270:ENST00000353555:exon3:c.C234G:p.S78S,ENSG00000172270:ENST00000573216:exon3:c.C210G:p.S70S,ENSG00000172270:ENST00000333511:exon4:c.C582G:p.S194S NA NA 19p13.3 NA Name=ZNF263 NA NA rs2229664 0.15 0.15 0.131 0.190096 0.1113 0.2341 0.0908 0.2103 0.2689 0.11 0.2 0.11 0.19 0.144 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094203 NA NA 0.101024 0.169545 NA 0.109 NA 6.3103426 1021 22 17589246 17589246 G A exonic IL17RA NA synonymous SNV IL17RA:NM_014339:exon13:c.G1137A:p.K379K exonic ENSG00000177663 NA synonymous SNV ENSG00000177663:ENST00000319363:exon13:c.G1137A:p.K379K Score=433;Name=lod=77 NA 22q11.1 NA NA NA NA rs879576 0.11 0.11 0.111 0.121406 0.1173 NA 0.0893 0.2466 0.1043 0.11 NA 0.1 0.24 0.1153 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.08754 NA NA 0.123837 0.226736 NA 0.145 NA 6.3102296 1021 16 70515355 70515355 C T exonic COG4 NA synonymous SNV COG4:NM_001195139:exon17:c.G2079A:p.S693S,COG4:NM_015386:exon18:c.G2142A:p.S714S exonic ENSG00000103051 NA synonymous SNV ENSG00000103051:ENST00000565715:exon3:c.G204A:p.S68S,ENSG00000103051:ENST00000323786:exon18:c.G2142A:p.S714S Score=597;Name=lod=357 NA 16q22.1 NA NA NA NA rs11054 0.4 0.4 0.43 0.373802 0.4692 0.2222 0.3847 0.5083 0.2423 0.47 0.24 0.39 0.51 0.4207 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36782 1.36782 NA 0.466977 0.517516 NA 0.355 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116788.2;CLNDSDB=.;CLNDSDBID=. 6.3097896 1021 16 69202908 69202908 A G UTR3 CIRH1A NM_032830:c.*68A>G NA NA UTR3 ENSG00000141076 ENST00000314423:c.*68A>G,ENST00000562237:c.*68A>G,ENST00000352319:c.*68A>G,ENST00000567500:c.*68A>G NA NA Score=454;Name=lod=93 NA 16q22.1 NA NA Name=8 NA rs74886619 0.01 0.01 0.005 0.00778754 0.0249 NA 0.0101 0.0008 0.0061 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.57775 4.57775 NA NA NA NA 0.007 NA 6.3084334 1021 6 138027662 138027662 A G intergenic OLIG3,LOC100130476 dist=212131;dist=117145 NA NA ncRNA_exonic ENSG00000220412 NA NA NA Score=787;Name=lod=2101 NA 6q23.3 NA Name=NFKB Name=6 NA rs6901613 0.65 0.65 0.623 0.652955 0.6918 0.5486 0.719 0.6649 0.6575 0.69 0.54 0.73 0.66 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234546 NA NA NA NA NA 0.71 NA 6.3082 1021 6 155486519 155486519 G A exonic TIAM2 NA synonymous SNV TIAM2:NM_012454:exon8:c.G2337A:p.K779K exonic ENSG00000146426 NA synonymous SNV ENSG00000146426:ENST00000456877:exon3:c.G273A:p.K91K,ENSG00000146426:ENST00000528391:exon3:c.G273A:p.K91K,ENSG00000146426:ENST00000360366:exon6:c.G2337A:p.K779K,ENSG00000146426:ENST00000529824:exon6:c.G2337A:p.K779K,ENSG00000146426:ENST00000318981:exon8:c.G2337A:p.K779K,ENSG00000146426:ENST00000367174:exon8:c.G393A:p.K131K,ENSG00000146426:ENST00000456144:exon8:c.G2337A:p.K779K,ENSG00000146426:ENST00000528535:exon9:c.G2337A:p.K779K,ENSG00000146426:ENST00000461783:exon11:c.G2337A:p.K779K Score=448;Name=lod=88 NA 6q25.2 NA NA NA NA rs41284214 0.08 0.08 0.067 0.0563099 0.1312 0.001 0.0951 0.0499 0.0174 0.13 0.0017 0.1 0.07 0.0956 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276559 1.276559 NA 0.131744 0.063777 NA 0.065 NA 6.3081226 1021 17 7460743 7460743 G A UTR3 TNFSF12 NM_003809:c.*76G>A NA NA UTR3 ENSG00000239697 ENST00000293825:c.*76G>A,ENST00000322272:c.*660G>A NA NA NA NA 17p13.1 NA Name=USF-1 Name=5 NA rs113147008 0.02 0.02 0.017 0.0229633 0.0258 0.001 0.1153 0.0008 0.0072 0.03 NA 0.07 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734998 NA NA NA NA NA 0.007 NA 6.3075334 1021 13 43148565 43148565 T C exonic TNFSF11 NA synonymous SNV TNFSF11:NM_003701:exon1:c.T126C:p.P42P exonic ENSG00000120659 NA synonymous SNV ENSG00000120659:ENST00000239849:exon1:c.T126C:p.P42P Score=563;Name=lod=259 NA 13q14.11 Score=892;Name=V$AP2_Q6 NA NA NA rs2296533 0.47 0.47 0.385 0.465455 0.4712 0.4444 0.4164 0.559 0.3896 0.47 0.42 0.41 0.55 0.5236 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039638 NA NA 0.364502 0.429606 NA 0.399 NA 6.3073646 1022 14 22038162 22038162 A C exonic OR10G3 NA synonymous SNV OR10G3:NM_001005465:exon1:c.T714G:p.A238A exonic ENSG00000169208 NA synonymous SNV ENSG00000169208:ENST00000303532:exon1:c.T714G:p.A238A Score=448;Name=lod=88 NA 14q11.2 NA NA NA NA rs17197261 0.09 0.09 0.06 0.0838658 0.1153 0.0407 0.2882 0.0091 0.0521 0.11 0.02 0.23 0.02 0.1176 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088855 NA NA 0.129419 0.028143 NA 0.167 NA 6.3043476 1022 10 73569749 73569749 C T exonic CDH23 NA synonymous SNV CDH23:NM_001171933:exon14:c.C2175T:p.P725P,CDH23:NM_001171934:exon14:c.C2175T:p.P725P,CDH23:NM_022124:exon59:c.C8895T:p.P2965P exonic ENSG00000107736 NA synonymous SNV ENSG00000107736:ENST00000398788:exon14:c.C2175T:p.P725P,ENSG00000107736:ENST00000224721:exon60:c.C8910T:p.P2970P NA NA 10q22.1 NA NA NA NA rs11000009 0.08 0.08 0.082 0.0808706 0.1213 0.0079 0.072 0.09 0.1084 0.12 0.0035 0.07 0.09 0.1141 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769117 NA NA 0.127432 0.093248 NA 0.152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039294.1;CLNDSDB=.;CLNDSDBID=. 6.3038346 1022 10 82331292 82331292 G A exonic SH2D4B NA synonymous SNV SH2D4B:NM_001145719:exon3:c.G306A:p.K102K,SH2D4B:NM_207372:exon3:c.G453A:p.K151K exonic ENSG00000178217 NA synonymous SNV ENSG00000178217:ENST00000313455:exon3:c.G306A:p.K102K,ENSG00000178217:ENST00000339284:exon3:c.G453A:p.K151K,ENSG00000178217:ENST00000470604:exon3:c.G450A:p.K150K Score=507;Name=lod=154 NA 10q23.1 NA NA NA NA rs72805712 0.1 0.1 0.089 0.0938498 0.1203 0.004 0.0879 0.1785 0.0491 0.12 0.0017 0.11 0.15 0.1093 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.294934 1.294934 NA 0.133256 0.169768 NA 0.116 NA 6.3038106 1022 19 51920852 51920852 C T UTR5 SIGLEC10 NM_001171161:c.-17G>A,NM_001171158:c.-17G>A,NM_001171159:c.-17G>A,NM_001171157:c.-17G>A,NM_001171156:c.-17G>A,NM_033130:c.-17G>A NA NA UTR5 ENSG00000142512 ENST00000353836:c.-17G>A,ENST00000441969:c.-17G>A,ENST00000356298:c.-17G>A,ENST00000432469:c.-17G>A,ENST00000525998:c.-17G>A,ENST00000439889:c.-17G>A,ENST00000436984:c.-17G>A,ENST00000339313:c.-17G>A,ENST00000529627:c.-17G>A NA NA NA NA 19q13.41 NA Name=Oct-2,ELF1_(SC-631),POU2F2,TAF1,PU.1,Pol2,Pol2-4H8 Name=17 NA rs117354113 0.0032 0.0032 0.01 0.00459265 0.0099 NA 0.0115 0.0008 0.0041 0.01 NA 0.01 0.002 0.0088 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822603 NA NA 0.011049 0.002724 NA NA NA 6.3035844 1022 21 43161877 43161877 C T exonic RIPK4 NA synonymous SNV RIPK4:NM_020639:exon8:c.G1476A:p.A492A exonic ENSG00000183421 NA synonymous SNV ENSG00000183421:ENST00000332512:exon8:c.G1476A:p.A492A,ENSG00000183421:ENST00000542057:exon8:c.G1287A:p.A429A,ENSG00000183421:ENST00000544709:exon8:c.G1287A:p.A429A,ENSG00000183421:ENST00000352483:exon9:c.G1620A:p.A540A Score=499;Name=lod=142 NA 21q22.3 Score=905;Name=V$NRF2_01 NA NA NA rs3746893 0.47 0.47 0.432 0.440096 0.4811 0.5704 0.4654 0.2806 0.4611 0.48 0.59 0.49 0.28 0.4434 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613908 NA NA 0.438605 0.321153 NA 0.254 NA 6.3035616 1022 3 101295777 101295777 G C intronic PCNP NA NA NA ncRNA_exonic ENSG00000242299 NA NA NA Score=576;Name=lod=293 NA 3q12.3 NA Name=HEY1 NA NA rs116074383 0.01 0.01 0.006 0.0081869 0.0298 NA 0.0101 0.0008 0.0031 0.02 NA 0.01 NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.012669 2.012669 NA NA NA NA 0.022 NA 6.3035333 1022 8 119938782 119938782 T C exonic TNFRSF11B NA synonymous SNV TNFRSF11B:NM_002546:exon4:c.A768G:p.L256L exonic ENSG00000164761 NA synonymous SNV ENSG00000164761:ENST00000297350:exon4:c.A768G:p.L256L Score=599;Name=lod=363 NA 8q24.12 NA NA NA NA rs2228568 0.07 0.07 0.07 0.0786741 0.1223 0.0069 0.0663 0.0461 0.1605 0.13 0.0017 0.08 0.05 0.1086 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.236805 1.236805 NA 0.132473 0.057195 NA 0.116 NA 6.3032936 1022 6 29910324 29910324 G C UTR5 HLA-A NM_001242758:c.-7G>C,NM_002116:c.-7G>C NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=HEY1,Oct-2,HNF4G_(SC-6558),GTF2F1_(RAP-74),TBP,TAF1,USF2,HNF4A_(H-171),POU2F2,YY1,Pol2(phosphoS2),Pol2,SP1,RFX5_(N-494),Pol2-4H8,Sin3Ak-20,YY1_(C-20),TAF7_(SQ-8) Name=144 NA rs114945359 0.08 0.08 0.044 0.101837 0.0596 0.2629 0.0403 0.0008 0.1595 0.06 0.22 0.04 0.002 0.0786 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277154 NA NA 0.058913 0.012273 NA 0.094 NA 6.302887 1022 1 51767352 51767352 G A exonic TTC39A NA synonymous SNV TTC39A:NM_001080494:exon12:c.C948T:p.F316F,TTC39A:NM_001144832:exon12:c.C957T:p.F319F exonic ENSG00000085831 NA synonymous SNV ENSG00000085831:ENST00000262675:exon12:c.C864T:p.F288F,ENSG00000085831:ENST00000371747:exon12:c.C1050T:p.F350F,ENSG00000085831:ENST00000371750:exon12:c.C948T:p.F316F,ENSG00000085831:ENST00000413473:exon12:c.C957T:p.F319F,ENSG00000085831:ENST00000447632:exon12:c.C1053T:p.F351F,ENSG00000085831:ENST00000451380:exon12:c.C945T:p.F315F Score=715;Name=lod=1074 NA 1p32.3 NA NA NA NA rs41287290 0.07 0.07 0.058 0.0533147 0.1441 NA 0.0836 0.0106 0.0511 0.13 NA 0.1 0.02 0.0958 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227331 NA NA 0.123964 0.02325 ID=COSM1343277,COSM1343278;OCCURENCE=1(large_intestine) 0.007 NA 6.3028026 1022 19 50909765 50909765 C T exonic POLD1 NA synonymous SNV POLD1:NM_001256849:exon12:c.C1485T:p.T495T,POLD1:NM_002691:exon12:c.C1485T:p.T495T exonic ENSG00000062822 NA synonymous SNV ENSG00000062822:ENST00000595904:exon11:c.C1485T:p.T495T,ENSG00000062822:ENST00000440232:exon12:c.C1485T:p.T495T,ENSG00000062822:ENST00000599857:exon12:c.C1485T:p.T495T,ENSG00000062822:ENST00000600859:exon12:c.C1485T:p.T495T NA Name=Obesity-related traits 19q13.33 NA NA NA NA rs2230245 0.06 0.06 0.059 0.077476 0.1252 0.0099 0.0749 0.0318 0.1616 0.11 0.0035 0.08 0.04 0.124 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089444 NA NA 0.114731 0.039109 ID=COSM1395459,COSM1395458;OCCURENCE=1(large_intestine) 0.043 NA 6.3027356 1022 20 57564070 57564070 C T exonic NELFCD NA synonymous SNV NELFCD:NM_198976:exon5:c.C552T:p.T184T exonic ENSG00000101158 NA synonymous SNV ENSG00000101158:ENST00000344018:exon5:c.C525T:p.T175T,ENSG00000101158:ENST00000602795:exon5:c.C552T:p.T184T Score=470;Name=lod=108 NA 20q13.32 NA NA NA NA rs2273360 0.1 0.1 0.092 0.109026 0.1183 0.1359 0.17 0.0204 0.1483 0.12 0.12 0.16 0.02 0.1298 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.205465 NA NA 0.116163 0.041761 NA 0.08 NA 6.3024036 1022 5 70800475 70800475 C T exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon16:c.C2269T:p.R757C exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon16:c.C2269T:p.R757C NA NA 5q13.2 NA NA NA NA rs3761966 0.34 0.34 0.326 0.323682 0.335 0.505 0.4928 0.1067 0.2986 0.33 0.51 0.44 0.1 0.3539 0.51 0.21 T 0.0 B 0.0 B 0.622 N 1.000 P -1.06 N 2.98 T -0.969 T 0.000 T 0.058 -0.878 0.484 -0.211 -0.150 -0.258 3.227 -0.878384 NA 0.18 0.343612 0.148884 NA 0.29 NA 6.3008214 1022 8 25315837 25315837 G A UTR5 KCTD9 NM_017634:c.-75C>T NA NA UTR5 ENSG00000104756 ENST00000221200:c.-75C>T,ENST00000519665:c.-75C>T,ENST00000523140:c.-75C>T NA NA Score=589;Name=lod=330 NA 8p21.2 NA Name=GR,EBF1_(C-8),GABP,TAF1,YY1_(C-20),Pol2,PAX5-C20,NFKB,AP-2gamma,c-Myc,ZBTB7A_(SC-34508),TBP,TCF12,EBF,Pol2-4H8,Sin3Ak-20,Egr-1 NA NA rs62502022 0.02 0.02 0.015 0.0127796 0.0328 NA 0.0331 0.0008 0.0072 0.03 NA 0.02 0.01 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.775024 1.775024 NA NA NA NA NA NA 6.3005334 1022 5 135382989 135382989 G C exonic TGFBI NA synonymous SNV TGFBI:NM_000358:exon6:c.G651C:p.L217L exonic ENSG00000120708 NA synonymous SNV ENSG00000120708:ENST00000305126:exon6:c.G651C:p.L217L,ENSG00000120708:ENST00000442011:exon6:c.G651C:p.L217L Score=423;Name=lod=70 NA 5q31.1 Score=785;Name=V$PPARA_01 NA NA NA rs1442 0.35 0.35 0.307 0.317692 0.4732 0.369 0.4481 0.0272 0.4049 0.49 0.37 0.43 0.04 0.427 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.190248 NA NA 0.465947 0.094894 NA 0.297 NA 6.3005196 1022 2 32800422 32800422 C G exonic BIRC6 NA synonymous SNV BIRC6:NM_016252:exon66:c.C13344G:p.T4448T exonic ENSG00000115760 NA synonymous SNV ENSG00000115760:ENST00000421745:exon66:c.C13344G:p.T4448T Score=666;Name=lod=677 NA 2p22.3 NA NA NA NA rs35286811 0.1 0.1 0.091 0.0940495 0.1332 0.0456 0.0922 0.115 0.0767 0.12 0.06 0.11 0.1 0.112 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779404 NA NA 0.121279 0.124149 NA 0.159 NA 6.3001876 1022 12 31604928 31604928 G C exonic DENND5B NA synonymous SNV DENND5B:NM_144973:exon5:c.C1575G:p.A525A exonic ENSG00000170456 NA synonymous SNV ENSG00000170456:ENST00000546299:exon4:c.C1431G:p.A477A,ENSG00000170456:ENST00000389082:exon5:c.C1575G:p.A525A,ENSG00000170456:ENST00000306833:exon6:c.C1680G:p.A560A,ENSG00000170456:ENST00000354285:exon6:c.C1641G:p.A547A,ENSG00000170456:ENST00000536562:exon7:c.C1680G:p.A560A Score=598;Name=lod=358 NA 12p11.21 NA NA NA NA rs3205175 0.18 0.18 0.185 0.176318 0.1233 0.247 0.1052 0.2247 0.1431 0.12 0.24 0.12 0.24 0.1383 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515171 NA NA 0.105352 0.2 NA 0.181 NA 6.2997146 1022 4 15850330 15850330 T G UTR3 CD38 NM_001775:c.*105T>G NA NA UTR3 ENSG00000004468 ENST00000502843:c.*503T>G,ENST00000226279:c.*105T>G NA NA NA NA 4p15.32 NA Name=MafK_(ab50322),eGFP-JunD Name=15 NA rs1803404 0.04 0.04 0.039 0.0457268 0.0338 NA 0.0389 0.1165 0.0143 0.03 NA 0.04 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868469 NA NA NA NA NA 0.036 NA 6.2995334 1022 3 97983942 97983942 A G exonic OR5H6 NA nonsynonymous SNV OR5H6:NM_001005479:exon1:c.A814G:p.T272A exonic ENSG00000230301 NA nonsynonymous SNV ENSG00000230301:ENST00000383696:exon1:c.A814G:p.T272A NA NA 3q11.2 NA NA NA NA rs9853906 0.68 0.68 0.716 0.663339 0.6899 0.621 0.6167 0.7186 0.638 0.69 0.68 0.59 0.76 0.6657 0.76 0.3 T 0.0 B 0.0 B 0.882 N 1.000 P 0.19 N 1.24 T -0.991 T 0.000 T 0.011 0.719 7.826 -0.036 -0.639 -5.389 6.289 0.71872 NA 0.07 0.67853 0.714026 NA 0.659 NA 6.2992034 1022 6 30036471 30036471 C A exonic PPP1R11 NA synonymous SNV PPP1R11:NM_021959:exon2:c.C174A:p.S58S exonic ENSG00000204619 NA synonymous SNV ENSG00000204619:ENST00000376758:exon1:c.C18A:p.S6S,ENSG00000204619:ENST00000376772:exon2:c.C174A:p.S58S,ENSG00000204619:ENST00000376773:exon2:c.C18A:p.S6S,ENSG00000204619:ENST00000376763:exon3:c.C18A:p.S6S,ENSG00000204619:ENST00000376765:exon3:c.C18A:p.S6S,ENSG00000204619:ENST00000376769:exon3:c.C18A:p.S6S Score=468;Name=lod=106 NA 6p22.1 NA NA NA NA rs2074482 0.18 0.18 0.191 0.191294 0.0954 0.1905 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 0.1522 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914056 NA NA 0.11997 0.25546 NA 0.167 NA 6.2990966 1022 14 33292914 33292914 A C exonic AKAP6 NA synonymous SNV AKAP6:NM_004274:exon13:c.A5895C:p.P1965P exonic ENSG00000151320 NA synonymous SNV ENSG00000151320:ENST00000280979:exon13:c.A5895C:p.P1965P Score=405;Name=lod=59 NA 14q12 NA NA NA NA rs2239648 0.24 0.24 0.259 0.266174 0.1113 0.251 0.1499 0.4864 0.226 0.11 0.28 0.11 0.49 0.1534 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320256 NA NA 0.103837 0.422379 NA 0.261 NA 6.2981296 1022 5 35871190 35871190 G A exonic IL7R NA nonsynonymous SNV IL7R:NM_002185:exon4:c.G412A:p.V138I exonic ENSG00000168685 NA nonsynonymous SNV ENSG00000168685:ENST00000303115:exon4:c.G412A:p.V138I,ENSG00000168685:ENST00000343305:exon4:c.G412A:p.V138I,ENSG00000168685:ENST00000506850:exon4:c.G412A:p.V138I,ENSG00000168685:ENST00000514217:exon4:c.G412A:p.V138I NA NA 5p13.2 NA NA NA NA rs1494555 0.67 0.67 0.707 0.666933 0.7038 0.4812 0.562 0.9312 0.5378 0.71 0.48 0.59 0.9 0.6519 0.9 0.38 T 0.0 B 0.0 B 0.488 N 1.000 P . . -1.12 T -0.974 T 0.000 T 0.059 -1.66 0.012 -1.61 -0.900 -0.031 11.700 -1.65972 NA 0.84 0.680116 0.874035 ID=COSM149814;OCCURENCE=1(stomach) 0.746 CLINSIG=pathogenic|untested;CLNDBN=Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified;CLNREVSTAT=single|not;CLNACC=RCV000015965.24|RCV000121214.1;CLNDSDB=MedGen:OMIM|.;CLNDSDBID=C1837028:608971|. 6.2975174 1022 11 4790575 4790575 A G exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.T573C:p.C191C exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.T573C:p.C191C,ENSG00000188069:ENST00000380383:exon1:c.T594C:p.C198C Score=352;Name=lod=36 NA 11p15.4 NA NA NA NA rs12788102 0.08 0.08 0.066 0.0485224 0.1412 NA 0.0965 0.0151 0.0143 0.14 NA 0.13 0.02 0.0934 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162313 NA NA 0.13483 0.048614 NA 0.13 NA 6.2972366 1022 6 32627882 32627882 C T UTR3 HLA-DQB1 NM_002123:c.*131G>A,NM_001243961:c.*131G>A NA NA ncRNA_UTR3 ENSG00000179344 NA NA NA NA NA 6p21.32 NA Name=Pol2,ELF1_(SC-631),TBP Name=7 NA rs1071639 0.21 0.21 0.19 0.218251 0.2028 0.252 0.1643 0.2284 0.2239 0.23 0.16 0.2 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105039 NA NA NA NA NA 0.275 NA 6.2972 1022 17 40706679 40706679 C T intronic HSD17B1 NA NA NA ncRNA_exonic ENSG00000266962 NA NA NA NA NA 17q21.2 NA Name=NRSF,Pol2,Pol2(phosphoS2),TAF1,ELF1_(SC-631),HA-E2F1,Pol2-4H8,Egr-1,TBP,PAX5-N19,ZBTB7A_(SC-34508),HEY1 Name=137 NA rs113690224 0.01 0.01 0.015 0.00559105 0.0159 NA 0.0115 0.0023 0.001 0.01 NA 0.01 0.0041 0.0078 0.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628884 NA NA 0.012591 0.002297 NA 0.007 NA 6.2970423 1022 2 43805739 43805739 C T exonic THADA NA synonymous SNV THADA:NM_001083953:exon9:c.G729A:p.L243L,THADA:NM_001271643:exon9:c.G729A:p.L243L,THADA:NM_001271644:exon9:c.G729A:p.L243L,THADA:NM_022065:exon9:c.G729A:p.L243L exonic ENSG00000115970 NA synonymous SNV ENSG00000115970:ENST00000402360:exon8:c.G729A:p.L243L,ENSG00000115970:ENST00000474159:exon8:c.G729A:p.L243L,ENSG00000115970:ENST00000398653:exon9:c.G729A:p.L243L,ENSG00000115970:ENST00000404790:exon9:c.G729A:p.L243L,ENSG00000115970:ENST00000405006:exon9:c.G729A:p.L243L,ENSG00000115970:ENST00000405975:exon9:c.G729A:p.L243L,ENSG00000115970:ENST00000408045:exon9:c.G729A:p.L243L,ENSG00000115970:ENST00000403856:exon10:c.G729A:p.L243L Score=544;Name=lod=217 NA 2p21 NA NA NA NA rs61754256 0.13 0.13 0.147 0.157748 0.1064 0.0069 0.0922 0.3487 0.1544 0.11 0.01 0.11 0.33 0.1285 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.508387 NA NA 0.135452 0.293122 NA 0.123 NA 6.2963146 1022 8 104343686 104343686 G A exonic FZD6 NA synonymous SNV FZD6:NM_001164615:exon7:c.G2070A:p.P690P,FZD6:NM_003506:exon7:c.G2070A:p.P690P,FZD6:NM_001164616:exon8:c.G1974A:p.P658P exonic ENSG00000164930 NA synonymous SNV ENSG00000164930:ENST00000540287:exon6:c.G1155A:p.P385P,ENSG00000164930:ENST00000358755:exon7:c.G2070A:p.P690P,ENSG00000164930:ENST00000522566:exon7:c.G2070A:p.P690P,ENSG00000164930:ENST00000523739:exon8:c.G1974A:p.P658P NA NA 8q22.3 Score=810;Name=V$FREAC3_01 NA Name=2 NA rs1053917 0.45 0.45 0.444 0.437899 0.4493 0.627 0.5043 0.2829 0.3937 0.45 0.6 0.48 0.25 0.457 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806891 NA NA 0.464186 0.29301 NA 0.464 NA 6.2961806 1022 1 43855546 43855546 A G upstream MED8,SZT2 NA NA NA upstream;downstream ENSG00000159479,ENSG00000198198;ENSG00000229431 NA NA NA NA NA 1p34.2 Score=957;Name=V$CETS1P54_01 Name=NF-YB,MafK_(ab50322),CCNT2,ELF1_(SC-631),NFKB,TBP,GTF2F1_(RAP-74),IRF1,RXRA,CEBPB,CHD2_(N-1250),ELK4,MafF_(M8194),GABP,Pol2(b),TAF1,GATA-1,NF-YA,MafK_(SC-477),SP2_(SC-643),Sin3Ak-20,YY1_(C-20),Pbx3,KAP1,TR4,c-Fos,Pol2-4H8,Pol2,SP1,Mxi1_(bHLH),PU.1,STAT3,Pol2(phosphoS2),Egr-1 Name=148 NA rs839752 0.28 0.28 0.243 0.228035 0.3708 0.1062 0.3746 0.236 0.092 0.38 0.11 0.39 0.25 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441073 1.441073 NA NA NA NA 0.355 NA 6.2958666 1022 11 117309989 117309989 C T exonic DSCAML1 NA synonymous SNV DSCAML1:NM_020693:exon23:c.G4317A:p.L1439L exonic ENSG00000177103 NA synonymous SNV ENSG00000177103:ENST00000527706:exon21:c.G3507A:p.L1169L,ENSG00000177103:ENST00000321322:exon23:c.G4317A:p.L1439L Score=554;Name=lod=237 NA 11q23.3 NA NA NA NA rs11216386 0.26 0.26 0.229 0.252196 0.1064 0.5565 0.1758 0.1997 0.2137 0.11 0.56 0.17 0.2 0.1676 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006347 NA NA 0.0973 0.187188 NA 0.232 NA 6.2953666 1022 11 118925341 118925341 G A exonic HYOU1 NA synonymous SNV HYOU1:NM_001130991:exon7:c.C543T:p.N181N,HYOU1:NM_006389:exon7:c.C543T:p.N181N exonic ENSG00000149428 NA synonymous SNV ENSG00000149428:ENST00000543287:exon6:c.C282T:p.N94N,ENSG00000149428:ENST00000404233:exon7:c.C543T:p.N181N,ENSG00000149428:ENST00000526656:exon7:c.C543T:p.N181N,ENSG00000149428:ENST00000529972:exon7:c.C543T:p.N181N,ENSG00000149428:ENST00000530473:exon7:c.C543T:p.N181N,ENSG00000149428:ENST00000534233:exon7:c.C543T:p.N181N,ENSG00000149428:ENST00000525859:exon8:c.C543T:p.N181N Score=549;Name=lod=227 NA 11q23.3 NA NA NA Score=60;Name=469108_0_-_60 rs538478 0.47 0.47 0.45 0.432308 0.4821 0.7192 0.2954 0.1868 0.5143 0.48 0.75 0.32 0.22 0.4452 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144214 NA NA 0.444121 0.233636 NA 0.42 NA 6.2952456 1023 16 231167 231167 C T UTR3 HBQ1 NM_005331:c.*60C>T NA NA UTR3 ENSG00000086506 ENST00000199708:c.*60C>T NA NA NA NA 16p13.3 NA Name=Pol2 Name=27 NA rs3929997 0.03 0.03 0.03 0.034345 0.0388 NA 0.0346 0.0371 0.0613 0.04 NA 0.03 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951446 NA NA NA NA NA 0.022 NA 6.2945334 1023 19 2834808 2834808 T C exonic ZNF554 NA synonymous SNV ZNF554:NM_001102651:exon5:c.T1575C:p.C525C exonic ENSG00000172006 NA synonymous SNV ENSG00000172006:ENST00000317243:exon5:c.T1575C:p.C525C Score=374;Name=lod=44 NA 19p13.3 NA Name=KAP1,SETDB1,ZNF274 NA NA rs8102063 0.37 0.37 0.37 0.394169 0.4463 0.3413 0.3314 0.3306 0.5256 0.44 0.33 0.36 0.34 0.4455 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887042 NA NA 0.480339 0.32119 NA 0.362 NA 6.2945276 1023 13 114309226 114309226 G A exonic ATP4B NA synonymous SNV ATP4B:NM_000705:exon2:c.C144T:p.Y48Y exonic ENSG00000186009 NA synonymous SNV ENSG00000186009:ENST00000335288:exon2:c.C144T:p.Y48Y Score=517;Name=lod=168 NA 13q34 NA Name=MafK_(ab50322) NA NA rs11164142 0.45 0.45 0.436 0.473243 0.4592 0.6032 0.4438 0.32 0.5818 0.46 0.61 0.44 0.27 0.476 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949221 NA NA 0.437558 0.298003 NA 0.319 NA 6.2939086 1023 6 29911319 29911319 G T exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon3:c.G618T:p.T206T,HLA-A:NM_002116:exon3:c.G618T:p.T206T exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376802:exon3:c.G618T:p.T206T,ENSG00000206503:ENST00000376806:exon3:c.G618T:p.T206T,ENSG00000206503:ENST00000376809:exon3:c.G618T:p.T206T,ENSG00000206503:ENST00000396634:exon5:c.G618T:p.T206T Score=381;Name=lod=47 NA 6p22.1 NA NA NA NA rs41554520 NA NA 0.336 NA NA NA NA NA NA NA NA NA NA 0.3731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.448617 1.448617 NA NA NA NA NA NA 6.2935666 1023 4 119200274 119200274 C T ncRNA_exonic SNHG8 NA NA NA ncRNA_exonic ENSG00000269893 NA NA NA NA NA 4q26 NA Name=Pol2(b),TAF1,ETS1,E2F6_(H-50),Pol2,Ini1,YY1,Egr-1,YY1_(C-20),Sin3Ak-20,Pol2-4H8,USF1_(SC-8983),HEY1,PAX5-C20,USF-1 Name=148 NA rs658642 0.23 0.23 0.226 0.23143 0.3738 0.12 0.3588 0.0439 0.363 0.37 0.12 0.36 0.06 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782764 NA NA NA NA NA 0.355 NA 6.2928666 1023 4 1161190 1161190 C T UTR3 SPON2 NM_001128325:c.*70G>A,NM_001199021:c.*70G>A,NM_012445:c.*70G>A NA NA UTR3 ENSG00000159674 ENST00000290902:c.*70G>A,ENST00000431380:c.*70G>A NA NA NA NA 4p16.3 NA Name=TBP,CEBPB,CTCF,USF-1,PAX5-C20,CTCF_(C-20),c-Myc,Max,ZBTB7A_(SC-34508),Rad21,YY1_(C-20),E2F6,ZNF263,CTCF_(SC-5916),SMC3_(ab9263),YY1,GABP,E2F6_(H-50),Znf143_(16618-1-AP) Name=113 NA rs17164382 0.05 0.05 0.042 0.048722 0.0408 0.1379 0.0303 0.0015 0.0419 0.05 0.12 0.03 0.0041 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301629 NA NA NA NA NA 0.007 NA 6.2925334 1023 4 68441091 68441091 T C intronic STAP1 NA NA NA intronic ENSG00000035720 NA NA NA Score=431;Name=lod=75 NA 4q13.2 NA Name=GTF2B,HEY1,ELF1_(SC-631),Pol2-4H8,KAP1,BCLAF1_(M33-P5B11),TAF7_(SQ-8),MEF2C_(SC-13268),Pol2 Name=19 NA rs2306810 0.15 0.15 0.135 0.126398 0.2366 0.1032 0.1657 0.0189 0.1544 0.25 0.11 0.19 0.02 0.2071 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166214 NA NA 0.26407 0.064911 NA 0.087 NA 6.29223 1023 17 74554739 74554739 C G ncRNA_intronic SNHG16 NA NA NA ncRNA_exonic ENSG00000163597 NA NA NA NA NA 17q25.1 NA Name=Znf143_(16618-1-AP),CTCFL_(SC-98982),SMC3_(ab9263),Mxi1_(bHLH),Rad21,CTCF,CTCF_(SC-5916),CTCF_(C-20) Name=89 NA rs4648343 0.38 0.38 0.379 0.403554 0.3757 0.4851 0.2968 0.3661 0.4744 0.37 0.48 0.3 0.33 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090713 NA NA NA NA NA 0.42 NA 6.2909666 1023 3 3886919 3886919 C T exonic LRRN1 NA synonymous SNV LRRN1:NM_020873:exon2:c.C594T:p.I198I exonic ENSG00000175928 NA synonymous SNV ENSG00000175928:ENST00000319331:exon2:c.C594T:p.I198I Score=577;Name=lod=295 NA 3p26.2 NA NA NA NA rs3749348 0.21 0.21 0.21 0.211661 0.1024 0.2619 0.1455 0.2943 0.2076 0.1 0.28 0.15 0.33 0.152 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64704 NA NA 0.122209 0.235134 NA 0.217 NA 6.2900576 1023 15 70346923 70346923 C T exonic TLE3 NA synonymous SNV TLE3:NM_001105192:exon16:c.G1680A:p.S560S,TLE3:NM_005078:exon16:c.G1689A:p.S563S,TLE3:NM_020908:exon16:c.G1653A:p.S551S exonic ENSG00000140332 NA synonymous SNV ENSG00000140332:ENST00000559191:exon5:c.G432A:p.S144S,ENSG00000140332:ENST00000539550:exon14:c.G1470A:p.S490S,ENSG00000140332:ENST00000560589:exon14:c.G1521A:p.S507S,ENSG00000140332:ENST00000558201:exon15:c.G1707A:p.S569S,ENSG00000140332:ENST00000559048:exon15:c.G1689A:p.S563S,ENSG00000140332:ENST00000560939:exon15:c.G1695A:p.S565S,ENSG00000140332:ENST00000317509:exon16:c.G1653A:p.S551S,ENSG00000140332:ENST00000440567:exon16:c.G1659A:p.S553S,ENSG00000140332:ENST00000442299:exon16:c.G1665A:p.S555S,ENSG00000140332:ENST00000451782:exon16:c.G1680A:p.S560S,ENSG00000140332:ENST00000557907:exon16:c.G1665A:p.S555S,ENSG00000140332:ENST00000557997:exon16:c.G1665A:p.S555S,ENSG00000140332:ENST00000558379:exon16:c.G1674A:p.S558S,ENSG00000140332:ENST00000558939:exon16:c.G1689A:p.S563S,ENSG00000140332:ENST00000559929:exon16:c.G1719A:p.S573S NA NA 15q23 Score=908;Name=V$P300_01 NA NA Score=110;Name=826070_0_-_110 rs2228178 0.35 0.35 0.347 0.36262 0.4781 0.255 0.4726 0.2284 0.4581 0.46 0.25 0.46 0.21 0.4285 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.473304 1.473304 NA 0.470184 0.273619 NA 0.435 NA 6.2898826 1023 2 197541296 197541296 G A exonic CCDC150 NA synonymous SNV CCDC150:NM_001080539:exon12:c.G1281A:p.E427E exonic ENSG00000144395 NA synonymous SNV ENSG00000144395:ENST00000423093:exon6:c.G285A:p.E95E,ENSG00000144395:ENST00000272831:exon8:c.G285A:p.E95E,ENSG00000144395:ENST00000389175:exon12:c.G1281A:p.E427E Score=321;Name=lod=27 NA 2q33.1 NA NA NA NA rs17271281 0.08 0.08 0.077 0.0710863 0.1322 0.006 0.0879 0.0968 0.0286 0.13 0.0035 0.1 0.08 0.1109 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541776 NA NA 0.13409 0.093835 NA 0.072 NA 6.2894766 1023 21 46047857 46047857 C T exonic KRTAP10-9 NA nonsynonymous SNV KRTAP10-9:NM_198690:exon1:c.C769T:p.R257C exonic ENSG00000221837 NA nonsynonymous SNV ENSG00000221837:ENST00000397911:exon1:c.C769T:p.R257C Score=397;Name=lod=55 NA 21q22.3 NA NA NA NA rs9980129 0.63 0.63 0.593 0.626597 0.7068 0.6488 0.6744 0.5076 0.6483 0.7 0.62 0.68 0.51 0.6636 0.7 . . 0.041 B 0.023 B . . 0.000 P -2.465 N 6.06 T -1.080 T 0.000 T 0.136 -1.322 0.033 1.24 0.229 0.165 3.993 -1.322386 NA 1 0.674121 0.526352 NA 0.536 NA 6.2888124 1023 1 6278414 6278414 A G exonic RNF207 NA nonsynonymous SNV RNF207:NM_207396:exon17:c.A1718G:p.N573S exonic ENSG00000158286 NA nonsynonymous SNV ENSG00000158286:ENST00000377939:exon17:c.A1718G:p.N573S NA NA 1p36.31 NA NA NA NA rs709209 0.4 0.4 0.416 0.437101 0.3469 0.2639 0.2939 0.7405 0.3998 0.33 0.27 0.32 0.7 0.3617 0.7 0.88 T 0.0 B 0.0 B 0.168 N 1.000 P -1.245 N 2.36 T -0.951 T 0.000 T 0.02 -0.867 0.509 -1.29 -0.582 -0.296 1.127 -0.867304 NA 0.77 0.336039 0.680075 NA 0.507 NA 6.2886944 1023 17 61564052 61564052 A G exonic ACE NA synonymous SNV ACE:NM_001178057:exon3:c.A471G:p.A157A,ACE:NM_152830:exon3:c.A471G:p.A157A,ACE:NM_000789:exon14:c.A2193G:p.A731A exonic ENSG00000159640,ENSG00000264813 NA synonymous SNV ENSG00000159640:ENST00000290863:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000413513:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000421982:exon3:c.A123G:p.A41A,ENSG00000159640:ENST00000490216:exon3:c.A471G:p.A157A,ENSG00000264813:ENST00000577647:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000579314:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000290866:exon14:c.A2193G:p.A731A,ENSG00000159640:ENST00000428043:exon14:c.A2193G:p.A731A Score=352;Name=lod=36 NA 17q23.3 Score=740;Name=V$MYOGNF1_01 NA NA NA rs4331 0.48 0.48 0.457 0.529553 0.4235 0.6736 0.5692 0.413 0.6196 0.39 0.63 0.52 0.4 0.4999 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239887 NA NA 0.454651 0.421017 NA 0.522 NA 6.2886156 1023 7 97922851 97922851 C T exonic BAIAP2L1 NA synonymous SNV BAIAP2L1:NM_018842:exon14:c.G1518A:p.S506S exonic ENSG00000006453 NA synonymous SNV ENSG00000006453:ENST00000005260:exon14:c.G1518A:p.S506S Score=325;Name=lod=28 NA 7q21.3 Score=881;Name=V$CDPCR1_01 NA NA NA rs12728 0.32 0.32 0.299 0.266174 0.4801 0.2688 0.3458 0.1392 0.1585 0.48 0.24 0.37 0.15 0.3941 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556592 NA NA 0.504419 0.199955 NA 0.232 NA 6.2880476 1023 17 45994044 45994044 C T exonic SP2 NA synonymous SNV SP2:NM_003110:exon3:c.C607T:p.L203L exonic ENSG00000167182 NA synonymous SNV ENSG00000167182:ENST00000376741:exon3:c.C607T:p.L203L Score=520;Name=lod=173 NA 17q21.32 Score=910;Name=V$MEIS1_01 NA NA NA rs2228253 0.57 0.57 0.563 0.567891 0.4622 0.7748 0.4813 0.615 0.4611 0.45 0.75 0.48 0.61 0.4818 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273504 NA NA 0.436512 0.585338 NA 0.478 NA 6.2861546 1023 3 132166266 132166266 T G exonic DNAJC13 NA synonymous SNV DNAJC13:NM_015268:exon4:c.T246G:p.T82T exonic ENSG00000138246 NA synonymous SNV ENSG00000138246:ENST00000260818:exon4:c.T246G:p.T82T Score=711;Name=lod=1035 NA 3q22.1 NA NA NA NA rs11917172 0.11 0.11 0.103 0.107428 0.1292 0.1419 0.1398 0.0053 0.1646 0.14 0.13 0.14 0.01 0.1301 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.274479 1.274479 NA 0.12186 0.026782 NA 0.109 NA 6.2855066 1023 11 103152919 103152919 G A exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001377:exon72:c.G10773A:p.T3591T,DYNC2H1:NM_001080463:exon73:c.G10794A:p.T3598T exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000375735:exon72:c.G10773A:p.T3591T,ENSG00000187240:ENST00000398093:exon73:c.G10794A:p.T3598T Score=566;Name=lod=265 NA 11q22.3 NA NA NA NA rs12574626 0.18 0.18 0.198 0.19369 0.1272 0.0913 0.1282 0.4198 0.1084 0.14 0.09 0.13 0.4 0.1368 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922656 NA NA 0.117241 0.360633 NA 0.145 NA 6.2854256 1023 16 89350038 89350038 G A exonic ANKRD11 NA nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.C2912T:p.A971V,ANKRD11:NM_013275:exon9:c.C2912T:p.A971V,ANKRD11:NM_001256182:exon10:c.C2912T:p.A971V exonic ENSG00000167522 NA nonsynonymous SNV ENSG00000167522:ENST00000301030:exon9:c.C2912T:p.A971V,ENSG00000167522:ENST00000378330:exon10:c.C2912T:p.A971V NA NA 16q24.3 NA NA NA NA rs2279348 0.54 0.54 0.56 0.533546 0.6819 0.1627 0.6009 0.6248 0.592 0.67 0.22 0.65 0.65 0.6379 0.73 0.29 T 0.014 B 0.001 B 0.517 N 1.000 P 0.41 N 1.2 T -0.978 T 0.000 T 0.024 0.483 6.619 -3.5 -0.822 0.682 1.112 0.482701 NA NA 0.728425 0.635578 NA 0.616 NA 6.2851084 1023 14 106878038 106878038 G A intergenic LINC00226,LINC00221 dist=133072;dist=60417 NA NA exonic ENSG00000211959 NA synonymous SNV ENSG00000211959:ENST00000390619:exon1:c.C39T:p.F13F Score=405;Name=lod=59 NA 14q32.33 NA NA Name=2 NA rs113208890 NA NA 0.119 NA NA NA NA NA NA NA NA NA NA 0.215 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000108 NA NA NA NA NA 0.036 NA 6.285 1024 2 207008763 207008763 C A exonic NDUFS1 NA synonymous SNV NDUFS1:NM_001199982:exon7:c.G633T:p.A211A,NDUFS1:NM_001199981:exon9:c.G858T:p.A286A,NDUFS1:NM_001199983:exon9:c.G795T:p.A265A,NDUFS1:NM_001199984:exon10:c.G1008T:p.A336A,NDUFS1:NM_005006:exon10:c.G966T:p.A322A exonic ENSG00000023228 NA synonymous SNV ENSG00000023228:ENST00000457011:exon6:c.G618T:p.A206A,ENSG00000023228:ENST00000432169:exon7:c.G633T:p.A211A,ENSG00000023228:ENST00000423725:exon9:c.G795T:p.A265A,ENSG00000023228:ENST00000440274:exon9:c.G858T:p.A286A,ENSG00000023228:ENST00000233190:exon10:c.G966T:p.A322A,ENSG00000023228:ENST00000449699:exon10:c.G966T:p.A322A,ENSG00000023228:ENST00000455934:exon10:c.G1008T:p.A336A Score=544;Name=lod=217 NA 2q33.3 NA NA NA NA rs1127566 0.47 0.47 0.431 0.46226 0.4831 0.2609 0.5778 0.6475 0.316 0.49 0.25 0.58 0.61 0.4537 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.155429 NA NA 0.445116 0.635497 ID=COSM1129370;OCCURENCE=1(prostate) 0.457 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117710.2;CLNDSDB=.;CLNDSDBID=. 6.2847506 1024 1 76251884 76251884 G A UTR5 RABGGTB NM_004582:c.-73G>A NA NA UTR5;UTR3 ENSG00000137955;ENSG00000117054 ENST00000535300:c.-5316G>A;ENST00000528016:c.*188G>A NA NA NA NA 1p31.1 NA Name=GTF2F1_(RAP-74),TBP,GTF2B,TCF12,Nrf1,p300_(N-15),Oct-2,HEY1,NFKB,ELF1_(SC-631),Rad21,c-Myc,Max,Pol2-4H8,KAP1,TAF7_(SQ-8),YY1_(C-20),Sin3Ak-20,Pol2(phosphoS2),Ini1,YY1,STAT3,NANOG_(SC-33759),PU.1,Mxi1_(bHLH),RFX5_(N-494),NRSF,Pol2,USF2,POU2F2,Pol2(b),TAF1 Name=148 NA rs76671446 0.01 0.01 0.008 0.00778754 0.0179 NA 0.0173 0.003 0.0051 0.01 NA 0.02 0.0041 NA 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033422 NA NA 0.030798 0.003613 NA 0.007 NA 6.2846354 1024 2 203139844 203139844 T C exonic NOP58 NA synonymous SNV NOP58:NM_015934:exon2:c.T54C:p.N18N exonic ENSG00000055044 NA synonymous SNV ENSG00000055044:ENST00000264279:exon2:c.T54C:p.N18N,ENSG00000055044:ENST00000426814:exon2:c.T54C:p.N18N Score=634;Name=lod=504 NA 2q33.1 NA NA NA NA rs80282360 0.1 0.1 0.071 0.123403 0.1362 0.123 0.1427 0.0045 0.2577 0.14 0.1 0.15 0.01 0.1286 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746728 NA NA 0.11753 0.024135 ID=COSM1162358;OCCURENCE=1(pancreas) 0.065 NA 6.2843366 1024 1 228461129 228461129 A G exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000359599:exon6:c.A1559G:p.H520R,ENSG00000154358:ENST00000570156:exon21:c.A6143G:p.H2048R NA NA 1q42.13 NA NA NA NA rs1188724 0.72 0.72 0.692 0.69349 0.663 0.75 0.6974 0.8442 0.4601 0.66 0.74 0.7 0.82 0.6908 0.82 0.4 T . . . . . . 1.000 P . . -0.12 T -1.004 T 0.000 T 0.018 -1.702 0.011 -1.1 -0.621 -1.735 11.816 -1.701638 NA 0.78 0.695348 0.816881 NA 0.717 NA 6.2841854 1024 7 72891754 72891754 C T exonic BAZ1B NA synonymous SNV BAZ1B:NM_032408:exon7:c.G2037A:p.S679S exonic ENSG00000009954 NA synonymous SNV ENSG00000009954:ENST00000339594:exon7:c.G2037A:p.S679S,ENSG00000009954:ENST00000404251:exon7:c.G2037A:p.S679S NA NA 7q11.23 Score=953;Name=V$NFKAPPAB_01 NA Name=5 NA rs2074754 0.37 0.37 0.344 0.347644 0.4682 0.4395 0.4784 0.0431 0.4479 0.48 0.47 0.46 0.03 0.4452 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373083 NA NA 0.469186 0.123014 NA 0.304 NA 6.2840806 1024 17 72937851 72937851 G A exonic OTOP3 NA nonsynonymous SNV OTOP3:NM_001272005:exon2:c.G383A:p.R128Q,OTOP3:NM_178233:exon2:c.G437A:p.R146Q exonic ENSG00000182938 NA nonsynonymous SNV ENSG00000182938:ENST00000328801:exon2:c.G437A:p.R146Q NA NA 17q25.1 NA NA NA NA rs9890664 0.67 0.67 0.655 0.653754 0.6948 0.7341 0.7695 0.4947 0.6616 0.73 0.7 0.74 0.48 0.6817 0.74 0.53 T 0.0 B 0.001 B 0.982 N 1.000 P 0.115 N 3.17 T -1.005 T 0.000 T 0.016 -0.78 0.731 -6.34 -0.910 -0.031 9.655 -0.780058 NA 0.39 0.673023 0.551521 NA 0.63 NA 6.2838104 1024 5 141029072 141029072 G A exonic FCHSD1 NA synonymous SNV FCHSD1:NM_033449:exon5:c.C265T:p.L89L exonic ENSG00000197948 NA synonymous SNV ENSG00000197948:ENST00000522126:exon4:c.C37T:p.L13L,ENSG00000197948:ENST00000435817:exon5:c.C265T:p.L89L,ENSG00000197948:ENST00000519800:exon5:c.C259T:p.L87L,ENSG00000197948:ENST00000522783:exon5:c.C259T:p.L87L Score=536;Name=lod=202 NA 5q31.3 NA NA NA NA rs11739451 0.12 0.12 0.106 0.111022 0.1183 0.0992 0.1599 0.0522 0.1605 0.13 0.12 0.15 0.07 0.1385 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984295 NA NA 0.126761 0.06384 NA 0.094 NA 6.2831056 1024 1 1551927 1551927 T C exonic MIB2 NA nonsynonymous SNV MIB2:NM_001170686:exon2:c.T214C:p.F72L,MIB2:NM_001170687:exon2:c.T214C:p.F72L,MIB2:NM_001170688:exon2:c.T214C:p.F72L,MIB2:NM_080875:exon2:c.T214C:p.F72L exonic ENSG00000197530 NA nonsynonymous SNV ENSG00000197530:ENST00000355826:exon2:c.T214C:p.F72L,ENSG00000197530:ENST00000357210:exon2:c.T43C:p.F15L,ENSG00000197530:ENST00000360522:exon2:c.T43C:p.F15L,ENSG00000197530:ENST00000378710:exon2:c.T43C:p.F15L,ENSG00000197530:ENST00000489635:exon2:c.T43C:p.F15L,ENSG00000197530:ENST00000505820:exon2:c.T214C:p.F72L,ENSG00000197530:ENST00000514363:exon2:c.T43C:p.F15L,ENSG00000197530:ENST00000518681:exon2:c.T214C:p.F72L,ENSG00000197530:ENST00000520777:exon2:c.T214C:p.F72L NA NA 1p36.33 NA NA Name=21 NA rs7418389 0.51 0.51 0.512 0.477037 0.7058 0.2054 0.4813 0.5378 0.4366 0.71 0.19 0.57 0.54 0.6228 0.72 1 T 0.0 B 0.0 B . . 0.999 P 0 N 1.45 T -0.931 T 0.000 T 0.099 -0.435 1.975 0.364 0.044 0.221 1.104 -0.435458 NA 1 0.721899 0.560063 NA 0.558 NA 6.2828344 1024 7 93544356 93544356 T C intergenic GNGT1,GNG11 dist=3871;dist=6660 NA NA intergenic ENSG00000127928,ENSG00000127920 dist=3779;dist=6655 NA NA Score=573;Name=lod=283 NA 7q21.3 NA Name=AP-2gamma,p300_(N-15),JunD,c-Fos,p300,CEBPB Name=109 NA rs112031384 0.1 0.1 0.085 0.115815 0.0517 0.1161 0.1441 0.1634 0.0971 0.05 0.09 0.11 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578875 NA NA NA NA NA 0.08 NA 6.2816334 1024 22 50720622 50720622 C T exonic PLXNB2 NA synonymous SNV PLXNB2:NM_012401:exon19:c.G3108A:p.Q1036Q exonic ENSG00000196576 NA synonymous SNV ENSG00000196576:ENST00000359337:exon19:c.G3108A:p.Q1036Q,ENSG00000196576:ENST00000449103:exon19:c.G3108A:p.Q1036Q Score=259;Name=lod=15 NA 22q13.33 NA Name=ERalpha_a NA NA rs11547728 0.38 0.38 0.373 0.381589 0.4791 0.2688 0.3112 0.3192 0.5317 0.48 0.31 0.31 0.33 0.4409 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613426 NA NA 0.466073 0.342144 NA 0.29 NA 6.2805936 1024 8 17198953 17198953 T C exonic MTMR7 NA synonymous SNV MTMR7:NM_004686:exon6:c.A651G:p.L217L exonic ENSG00000003987 NA synonymous SNV ENSG00000003987:ENST00000180173:exon6:c.A651G:p.L217L,ENSG00000003987:ENST00000521857:exon6:c.A651G:p.L217L Score=513;Name=lod=162 NA 8p22 NA NA NA NA rs4921756 0.07 0.07 0.05 0.0445288 0.1491 0.002 0.0634 0.0076 0.0174 0.15 0.0035 0.07 0.01 0.0952 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991133 NA NA 0.142674 0.029959 NA 0.08 NA 6.2796926 1024 13 46946157 46946157 C T exonic KIAA0226L NA nonsynonymous SNV KIAA0226L:NM_025113:exon3:c.G454A:p.G152R exonic ENSG00000102445 NA nonsynonymous SNV ENSG00000102445:ENST00000378787:exon2:c.G454A:p.G152R,ENSG00000102445:ENST00000417405:exon2:c.G49A:p.G17R,ENSG00000102445:ENST00000534925:exon2:c.G49A:p.G17R,ENSG00000102445:ENST00000378781:exon3:c.G454A:p.G152R,ENSG00000102445:ENST00000378784:exon3:c.G253A:p.G85R,ENSG00000102445:ENST00000378797:exon3:c.G454A:p.G152R,ENSG00000102445:ENST00000389908:exon3:c.G454A:p.G152R,ENSG00000102445:ENST00000429979:exon3:c.G454A:p.G152R,ENSG00000102445:ENST00000439642:exon3:c.G454A:p.G152R,ENSG00000102445:ENST00000441284:exon3:c.G454A:p.G152R NA NA 13q14.13 NA NA NA NA rs1408184 0.47 0.47 0.444 0.451478 0.3469 0.5923 0.4121 0.5295 0.3364 0.34 0.6 0.42 0.57 0.3793 0.6 0.75 T 0.0 B 0.0 B 0.386 N 1.000 P -1.1 N 1.03 T -0.931 T 0.000 T 0.282 0.698 7.723 0.984 0.153 -0.213 8.513 0.697533 NA 0.48 0.327558 0.482978 NA 0.442 NA 6.2795754 1024 19 49132634 49132634 G A exonic SPHK2 NA synonymous SNV SPHK2:NM_001204160:exon6:c.G1461A:p.L487L,SPHK2:NM_001243876:exon6:c.G951A:p.L317L,SPHK2:NM_001204158:exon7:c.G1392A:p.L464L,SPHK2:NM_001204159:exon7:c.G1569A:p.L523L,SPHK2:NM_020126:exon7:c.G1569A:p.L523L exonic ENSG00000063176 NA synonymous SNV ENSG00000063176:ENST00000443164:exon5:c.G1755A:p.L585L,ENSG00000063176:ENST00000599029:exon5:c.G1461A:p.L487L,ENSG00000063176:ENST00000599748:exon6:c.G1461A:p.L487L,ENSG00000063176:ENST00000245222:exon7:c.G1569A:p.L523L,ENSG00000063176:ENST00000598088:exon7:c.G1569A:p.L523L,ENSG00000063176:ENST00000600537:exon7:c.G1392A:p.L464L,ENSG00000063176:ENST00000340932:exon8:c.G1455A:p.L485L Score=445;Name=lod=86 NA 19q13.33 NA NA NA NA rs3745733 0.09 0.09 0.094 0.0756789 0.1203 0.0714 0.0994 0.0272 0.0828 0.12 0.08 0.11 0.04 0.1286 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92996 NA NA 0.138268 0.04 ID=COSM439915;OCCURENCE=1(breast) 0.08 NA 6.2794986 1024 3 54930794 54930794 C T exonic CACNA2D3 NA synonymous SNV CACNA2D3:NM_018398:exon26:c.C2265T:p.G755G exonic ENSG00000157445 NA synonymous SNV ENSG00000157445:ENST00000490478:exon25:c.C1983T:p.G661G,ENSG00000157445:ENST00000288197:exon26:c.C2265T:p.G755G,ENSG00000157445:ENST00000474759:exon26:c.C2265T:p.G755G,ENSG00000157445:ENST00000415676:exon27:c.C2265T:p.G755G Score=618;Name=lod=435 NA 3p14.3 NA NA NA NA rs17054524 0.11 0.11 0.104 0.117812 0.1272 0.0536 0.111 0.1293 0.1636 0.12 0.05 0.14 0.14 0.1222 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133095 NA NA 0.137873 0.124874 NA 0.087 NA 6.2793936 1024 12 132631855 132631855 C T exonic NOC4L NA synonymous SNV NOC4L:NM_024078:exon4:c.C375T:p.F125F exonic ENSG00000184967 NA synonymous SNV ENSG00000184967:ENST00000330579:exon4:c.C375T:p.F125F,ENSG00000184967:ENST00000541954:exon4:c.C276T:p.F92F Score=456;Name=lod=95 NA 12q24.33 NA NA NA NA rs11543305 0.05 0.05 0.05 0.0435304 0.1064 NA 0.072 0.0061 0.0542 0.1 NA 0.07 0.01 0.1692 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258989 NA NA 0.111695 0.022467 NA 0.022 NA 6.2793716 1024 16 77328895 77328895 C T exonic ADAMTS18 NA synonymous SNV ADAMTS18:NM_199355:exon19:c.G2931A:p.V977V exonic ENSG00000140873 NA synonymous SNV ENSG00000140873:ENST00000282849:exon19:c.G2931A:p.V977V Score=490;Name=lod=131 NA 16q23.1 NA NA NA NA rs12935229 0.13 0.13 0.114 0.114617 0.1262 0.1935 0.1873 0.0053 0.1176 0.13 0.19 0.17 0.01 0.1308 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.155314 NA NA 0.130698 0.021611 NA 0.065 NA 6.2789686 1024 7 4153824 4153824 A G exonic SDK1 NA synonymous SNV SDK1:NM_152744:exon25:c.A3741G:p.E1247E exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon25:c.A3741G:p.E1247E,ENSG00000146555:ENST00000404826:exon25:c.A3741G:p.E1247E Score=510;Name=lod=158 NA 7p22.2 NA NA NA NA rs2141076 0.11 0.11 0.122 0.130791 0.1223 0.001 0.0836 0.2504 0.1452 0.12 0.0017 0.07 0.26 0.1306 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521029 NA NA 0.135233 0.225828 NA 0.109 NA 6.2785336 1024 19 33655144 33655144 C T exonic WDR88 NA synonymous SNV WDR88:NM_173479:exon9:c.C1122T:p.N374N exonic ENSG00000166359 NA synonymous SNV ENSG00000166359:ENST00000355868:exon9:c.C1122T:p.N374N,ENSG00000166359:ENST00000361680:exon9:c.C1122T:p.N374N Score=489;Name=lod=129 NA 19q13.11 NA NA NA NA rs1981827 0.14 0.14 0.147 0.176118 0.1282 0.1607 0.1239 0.115 0.3609 0.13 0.17 0.15 0.11 0.1482 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279006 NA NA 0.111744 0.114616 NA 0.203 NA 6.2785226 1024 1 16890484 16890484 G C exonic NBPF1 NA unknown UNKNOWN exonic ENSG00000219481 NA nonsynonymous SNV ENSG00000219481:ENST00000430580:exon29:c.C3374G:p.T1125R NA NA 1p36.13 NA NA Name=9 NA rs12117084 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3891 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519334 NA 0.03 NA NA NA 0.022 NA 6.2775667 1024 15 70345626 70345626 C T exonic TLE3 NA synonymous SNV TLE3:NM_001105192:exon17:c.G1914A:p.T638T,TLE3:NM_005078:exon17:c.G1923A:p.T641T,TLE3:NM_020908:exon17:c.G1887A:p.T629T exonic ENSG00000140332 NA synonymous SNV ENSG00000140332:ENST00000559191:exon6:c.G666A:p.T222T,ENSG00000140332:ENST00000539550:exon15:c.G1704A:p.T568T,ENSG00000140332:ENST00000560589:exon15:c.G1755A:p.T585T,ENSG00000140332:ENST00000558201:exon16:c.G1941A:p.T647T,ENSG00000140332:ENST00000559048:exon16:c.G1923A:p.T641T,ENSG00000140332:ENST00000560939:exon16:c.G1929A:p.T643T,ENSG00000140332:ENST00000317509:exon17:c.G1887A:p.T629T,ENSG00000140332:ENST00000440567:exon17:c.G1893A:p.T631T,ENSG00000140332:ENST00000442299:exon17:c.G1899A:p.T633T,ENSG00000140332:ENST00000451782:exon17:c.G1914A:p.T638T,ENSG00000140332:ENST00000557907:exon17:c.G1899A:p.T633T,ENSG00000140332:ENST00000557997:exon17:c.G1899A:p.T633T,ENSG00000140332:ENST00000558379:exon17:c.G1908A:p.T636T,ENSG00000140332:ENST00000558939:exon17:c.G1923A:p.T641T,ENSG00000140332:ENST00000559929:exon17:c.G1953A:p.T651T NA NA 15q23 Score=835;Name=V$GR_Q6 Name=ZNF263 NA NA rs1057865 0.35 0.35 0.33 0.363019 0.4791 0.256 0.4726 0.2284 0.4581 0.47 0.25 0.46 0.21 0.44 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329255 NA NA 0.470602 0.273256 NA 0.435 NA 6.2769646 1024 8 104312341 104312341 A G exonic FZD6 NA synonymous SNV FZD6:NM_001164615:exon2:c.A6G:p.E2E,FZD6:NM_003506:exon2:c.A6G:p.E2E exonic ENSG00000164930 NA synonymous SNV ENSG00000164930:ENST00000521195:exon1:c.A6G:p.E2E,ENSG00000164930:ENST00000358755:exon2:c.A6G:p.E2E,ENSG00000164930:ENST00000519011:exon2:c.A6G:p.E2E,ENSG00000164930:ENST00000522484:exon2:c.A6G:p.E2E,ENSG00000164930:ENST00000522566:exon2:c.A6G:p.E2E NA NA 8q22.3 NA Name=Pol2 Name=48 NA rs3736047 0.47 0.47 0.446 0.457668 0.4583 0.6379 0.5159 0.3313 0.4008 0.45 0.6 0.5 0.32 0.4651 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477468 NA NA 0.466395 0.326146 NA 0.478 NA 6.2768716 1024 19 12692001 12692001 G A exonic ZNF490 NA synonymous SNV ZNF490:NM_020714:exon5:c.C888T:p.H296H exonic ENSG00000188033 NA synonymous SNV ENSG00000188033:ENST00000311437:exon5:c.C888T:p.H296H Score=433;Name=lod=77 NA 19p13.2 NA Name=SETDB1,ZNF274,KAP1 NA NA rs3745651 0.26 0.26 0.231 0.20627 0.5099 0.0536 0.2983 0.0386 0.2127 0.51 0.05 0.36 0.03 0.3698 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168907 NA NA 0.510465 0.104403 NA 0.29 NA 6.2765016 1025 10 13230934 13230934 C T exonic MCM10 NA synonymous SNV MCM10:NM_018518:exon10:c.C1269T:p.S423S,MCM10:NM_182751:exon10:c.C1272T:p.S424S exonic ENSG00000065328 NA synonymous SNV ENSG00000065328:ENST00000378694:exon9:c.C1269T:p.S423S,ENSG00000065328:ENST00000378714:exon10:c.C1269T:p.S423S,ENSG00000065328:ENST00000484800:exon10:c.C1272T:p.S424S Score=566;Name=lod=265 NA 10p13 NA NA NA NA rs7904071 0.06 0.06 0.043 0.0409345 0.1421 NA 0.0576 0.0053 0.0153 0.14 NA 0.08 0.002 0.1076 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385353 NA NA 0.143721 0.030186 NA 0.087 NA 6.2732456 1025 16 1291188 1291188 C T exonic TPSAB1 NA synonymous SNV TPSAB1:NM_003294:exon3:c.C96T:p.V32V exonic ENSG00000172236 NA synonymous SNV ENSG00000172236:ENST00000461509:exon2:c.C117T:p.V39V,ENSG00000172236:ENST00000338844:exon3:c.C96T:p.V32V Score=340;Name=lod=32 NA 16p13.3 NA NA NA NA rs17434400 0.2 0.2 0.181 NA NA NA NA NA NA 0.16 0.3 0.17 0.18 0.3936 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21028 NA NA NA NA ID=COSM434652;OCCURENCE=1(breast) NA NA 6.2730666 1025 18 54815025 54815025 G T exonic BOD1L2 NA nonsynonymous SNV BOD1L2:NM_001257964:exon1:c.G482T:p.G161V exonic ENSG00000228075 NA nonsynonymous SNV ENSG00000228075:ENST00000585477:exon1:c.G482T:p.G161V NA NA 18q21.31 NA NA NA NA rs11151997 0.53 0.53 0.544 0.568091 0.5109 0.5794 0.5519 0.5893 0.5982 0.48 0.58 0.52 0.54 0.5502 0.67 0.13 T 0.148 B 0.012 B . . 1.000 P . . . . -0.935 T 0.000 T 0.085 1.379 10.54 -0.478 0.012 0.004 3.814 1.379007 1.379007 NA NA NA NA 0.609 NA 6.2722334 1025 5 178507069 178507069 T C exonic ZNF354C NA nonsynonymous SNV ZNF354C:NM_014594:exon5:c.T1636C:p.F546L exonic ENSG00000177932 NA nonsynonymous SNV ENSG00000177932:ENST00000315475:exon5:c.T1636C:p.F546L NA NA 5q35.3 NA NA NA NA rs1445846 0.76 0.76 0.765 0.775958 0.666 0.8879 0.7406 0.7368 0.8517 0.68 0.9 0.75 0.75 0.7212 0.9 0.01 D 0.0 B 0.0 B . . 1.000 P -0.28 N 3.61 T -1.085 T 0.000 T 0.046 2.878 15.59 1.48 -0.044 0.686 2.635 2.878252 2.878252 1 0.67454 0.71578 NA 0.71 NA 6.2715934 1025 1 110211956 110211956 C T exonic GSTM2 NA synonymous SNV GSTM2:NM_000848:exon4:c.C222T:p.N74N,GSTM2:NM_001142368:exon4:c.C222T:p.N74N exonic ENSG00000213366 NA synonymous SNV ENSG00000213366:ENST00000241337:exon4:c.C222T:p.N74N,ENSG00000213366:ENST00000369827:exon4:c.C216T:p.N72N,ENSG00000213366:ENST00000369829:exon4:c.C222T:p.N74N,ENSG00000213366:ENST00000369831:exon4:c.C222T:p.N74N,ENSG00000213366:ENST00000442650:exon4:c.C222T:p.N74N,ENSG00000213366:ENST00000460717:exon4:c.C222T:p.N74N,ENSG00000213366:ENST00000467579:exon4:c.C222T:p.N74N Score=579;Name=lod=301 NA 1p13.3 NA NA NA NA rs592792 0.11 0.11 0.11 0.0938498 0.1481 0.001 0.0836 0.1634 0.047 0.16 NA 0.09 0.2 0.1069 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064268 NA NA 0.14093 0.162733 NA 0.109 NA 6.2707366 1025 14 21467913 21467913 T G exonic SLC39A2 NA nonsynonymous SNV SLC39A2:NM_001256588:exon2:c.T128G:p.L43R,SLC39A2:NM_014579:exon2:c.T128G:p.L43R exonic ENSG00000165794 NA nonsynonymous SNV ENSG00000165794:ENST00000298681:exon2:c.T128G:p.L43R,ENSG00000165794:ENST00000554422:exon2:c.T128G:p.L43R NA NA 14q11.2 NA NA NA NA rs2234632 0.76 0.76 0.754 0.760383 0.6859 0.7153 0.7349 0.9395 0.6595 0.68 0.68 0.73 0.96 0.7016 0.96 1 T 0.0 B 0.0 B 0.073 N 1.000 P -0.865 N 0.75 T -0.956 T 0.000 T 0.066 -2.865 0 2.8 0.056 0.394 1.950 -2.864885 NA 1 0.675233 0.912846 NA 0.797 NA 6.2706004 1025 6 117631431 117631431 T G exonic ROS1 NA synonymous SNV ROS1:NM_002944:exon40:c.A6247C:p.R2083R exonic ENSG00000047936 NA synonymous SNV ENSG00000047936:ENST00000368508:exon40:c.A6247C:p.R2083R,ENSG00000047936:ENST00000368507:exon41:c.A6229C:p.R2077R Score=524;Name=lod=180 NA 6q22.1 NA NA NA NA rs552183 0.14 0.14 0.121 0.11901 0.1451 0.119 0.1052 0.1331 0.0828 0.15 0.12 0.1 0.17 0.1184 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.970303 NA NA 0.133488 0.14049 NA 0.145 NA 6.2696786 1025 10 101379795 101379795 G C intronic SLC25A28 NA NA NA intronic ENSG00000155287 NA NA NA Score=729;Name=lod=1229 NA 10q24.2 NA Name=Sin3Ak-20 Name=14 NA rs12252561 0.24 0.24 0.241 0.251797 0.2485 0.1994 0.2536 0.2436 0.319 0.25 0.23 0.25 0.24 0.2568 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053212 NA NA 0.225175 0.222812 NA 0.167 NA 6.269525 1025 11 5536848 5536848 G A exonic UBQLNL NA nonsynonymous SNV UBQLNL:NM_145053:exon1:c.C824T:p.A275V exonic ENSG00000175518 NA nonsynonymous SNV ENSG00000175518:ENST00000380184:exon1:c.C824T:p.A275V NA NA 11p15.4 NA NA NA NA rs2017433 0.53 0.53 0.53 0.532149 0.7266 0.3988 0.6138 0.3707 0.6299 0.71 0.36 0.65 0.38 0.6252 0.71 0.26 T 0.011 B 0.011 B 0.475 N 1.000 P 0.425 N 0.74 T -0.986 T 0.000 T 0.035 -0.233 2.876 2.19 0.298 0.594 4.409 -0.232954 NA 0.46 0.712125 0.436165 ID=COSM147120;OCCURENCE=1(stomach) 0.601 NA 6.2694084 1025 19 54276402 54276402 T C intergenic MIR519A2,MIR371A dist=10718;dist=14527 NA NA ncRNA_exonic ENSG00000229000 NA NA NA Score=633;Name=lod=500 NA 19q13.42 NA Name=GATA3_(SC-268),SMC3_(ab9263),Rad21,CTCF,GATA-2,CTCF_(SC-5916),CTCF_(C-20) Name=133 NA rs11084281 0.62 0.62 0.618 0.602436 0.7306 0.5129 0.6542 0.5159 0.6431 0.74 0.51 0.65 0.56 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.272002 2.272002 NA NA NA NA 0.616 NA 6.2694 1025 16 77327018 77327018 G A exonic ADAMTS18 NA synonymous SNV ADAMTS18:NM_199355:exon20:c.C3144T:p.C1048C exonic ENSG00000140873 NA synonymous SNV ENSG00000140873:ENST00000282849:exon20:c.C3144T:p.C1048C Score=464;Name=lod=103 NA 16q23.1 NA NA NA NA rs35296483 0.13 0.13 0.105 0.124201 0.1262 0.1935 0.2507 0.0061 0.1207 0.13 0.2 0.21 0.01 0.1408 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415631 NA NA 0.130814 0.02343 NA 0.08 NA 6.2688526 1025 9 139840580 139840580 C T exonic C8G NA synonymous SNV C8G:NM_000606:exon4:c.C390T:p.T130T exonic ENSG00000176919 NA synonymous SNV ENSG00000176919:ENST00000224181:exon4:c.C390T:p.T130T,ENSG00000176919:ENST00000371634:exon4:c.C390T:p.T130T NA NA 9q34.3 NA Name=USF-1 NA NA rs20574 0.12 0.12 0.113 0.108427 0.1312 0.0288 0.1066 0.177 0.0757 0.14 0.03 0.12 0.17 0.1256 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323828 NA NA 0.141294 0.189373 NA 0.029 NA 6.2685726 1025 4 98893437 98893437 A G exonic STPG2 NA synonymous SNV STPG2:NM_174952:exon7:c.T927C:p.D309D exonic ENSG00000163116 NA synonymous SNV ENSG00000163116:ENST00000522676:exon1:c.T69C:p.D23D,ENSG00000163116:ENST00000295268:exon7:c.T927C:p.D309D Score=422;Name=lod=69 NA 4q23 Score=885;Name=V$GATA1_04 NA NA NA rs783960 0.41 0.41 0.388 0.408946 0.4742 0.2431 0.5403 0.3707 0.4714 0.47 0.23 0.52 0.42 0.4589 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233914 NA NA 0.465 0.358148 ID=COSM1130976;OCCURENCE=1(prostate) 0.362 NA 6.2685666 1025 2 220473355 220473355 G A exonic STK11IP NA nonsynonymous SNV STK11IP:NM_052902:exon15:c.G1687A:p.V563I exonic ENSG00000144589 NA nonsynonymous SNV ENSG00000144589:ENST00000295641:exon15:c.G1687A:p.V563I,ENSG00000144589:ENST00000456909:exon15:c.G1654A:p.V552I NA NA 2q35 NA NA NA NA rs673951 0.38 0.38 0.345 0.350439 0.3598 0.6825 0.3919 0.0272 0.4059 0.37 0.71 0.38 0.04 0.3671 0.71 0.43 T 0.394 B 0.09 B 0.893 N 1.000 P 1.87 L 3.5 T -1.030 T 0.000 T 0.011 -0.232 2.879 0.456 -0.102 -0.183 4.178 -0.232288 NA 0.44 0.33804 0.07311 NA 0.246 NA 6.2683934 1025 5 96139250 96139250 C G exonic ERAP1 NA nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G380C:p.R127P,ERAP1:NM_001198541:exon2:c.G380C:p.R127P,ERAP1:NM_016442:exon2:c.G380C:p.R127P exonic ENSG00000164307 NA nonsynonymous SNV ENSG00000164307:ENST00000296754:exon2:c.G380C:p.R127P,ENSG00000164307:ENST00000443439:exon2:c.G380C:p.R127P,ENSG00000164307:ENST00000507154:exon3:c.G380C:p.R127P NA NA 5q15 NA NA NA NA rs26653 0.57 0.57 0.552 0.5625 0.7177 0.5208 0.5879 0.4818 0.5368 0.71 0.48 0.6 0.45 0.6387 0.71 0.4 T 0.0 B 0.002 B 0.575 N 1.000 P -0.7 N 4.21 T -0.993 T 0.000 T 0.127 -0.537 1.56 3.71 0.292 0.182 6.188 -0.537004 NA 0.22 0.708605 0.526328 NA 0.645 NA 6.2683284 1025 9 102595069 102595069 G A exonic NR4A3 NA synonymous SNV NR4A3:NM_006981:exon4:c.G1050A:p.Q350Q,NR4A3:NM_173199:exon4:c.G1050A:p.Q350Q,NR4A3:NM_173200:exon5:c.G1083A:p.Q361Q exonic ENSG00000119508 NA synonymous SNV ENSG00000119508:ENST00000330847:exon3:c.G1083A:p.Q361Q,ENSG00000119508:ENST00000338488:exon4:c.G1050A:p.Q350Q,ENSG00000119508:ENST00000395097:exon4:c.G1050A:p.Q350Q Score=710;Name=lod=1022 NA 9q22.33 NA NA NA NA rs41274654 0.09 0.09 0.067 0.0796725 0.1441 0.0625 0.1239 0.0189 0.0818 0.13 0.06 0.13 0.03 0.114 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006054 NA NA 0.141512 0.041307 NA 0.072 NA 6.2670546 1025 2 26536694 26536694 C T exonic GPR113 NA nonsynonymous SNV GPR113:NM_153835:exon5:c.G613A:p.A205T,GPR113:NM_001145169:exon7:c.G1003A:p.A335T,GPR113:NM_001145168:exon8:c.G1210A:p.A404T exonic ENSG00000173567 NA nonsynonymous SNV ENSG00000173567:ENST00000541401:exon2:c.G19A:p.A7T,ENSG00000173567:ENST00000333478:exon5:c.G613A:p.A205T,ENSG00000173567:ENST00000447444:exon5:c.G613A:p.A205T,ENSG00000173567:ENST00000421160:exon7:c.G1003A:p.A335T,ENSG00000173567:ENST00000311519:exon8:c.G1210A:p.A404T NA NA 2p23.3 NA NA NA NA rs2052937 0.71 0.71 0.697 0.663339 0.6938 0.6687 0.7133 0.6974 0.545 0.7 0.74 0.69 0.68 0.6759 0.74 1 T 0.066 B 0.007 B . . 1.000 P -1.39 N 3.25 T -0.966 T 0.000 T 0.065 -1.297 0.038 3.47 0.478 0.581 6.858 -1.297136 NA 0.42 0.696744 0.67635 NA 0.507 NA 6.2668894 1025 1 115260643 115260643 C T UTR3 CSDE1 NM_001130523:c.*147G>A,NM_001242891:c.*147G>A,NM_007158:c.*147G>A,NM_001007553:c.*147G>A,NM_001242892:c.*147G>A,NM_001242893:c.*147G>A NA NA UTR3 ENSG00000009307 ENST00000339438:c.*147G>A,ENST00000438362:c.*147G>A,ENST00000358528:c.*147G>A,ENST00000261443:c.*147G>A,ENST00000530886:c.*147G>A,ENST00000369530:c.*147G>A,ENST00000534699:c.*147G>A NA NA Score=822;Name=lod=2927 NA 1p13.2 Score=870;Name=V$FAC1_01 NA NA NA rs6851 0.04 0.04 0.03 0.0353435 0.0666 0.0159 0.0533 0.0076 0.0481 0.06 0.02 0.07 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.967812 2.967812 NA NA NA NA 0.029 NA 6.2667334 1025 11 118221349 118221349 T C exonic CD3G NA synonymous SNV CD3G:NM_000073:exon4:c.T390C:p.A130A exonic ENSG00000160654 NA synonymous SNV ENSG00000160654:ENST00000532917:exon4:c.T390C:p.A130A Score=414;Name=lod=64 NA 11q23.3 NA NA NA NA rs3753059 0.21 0.21 NA 0.296326 0.1789 0.5119 0.1095 0.1611 0.5102 0.14 0.45 0.11 0.1 0.2189 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.589101 1.589101 NA 0.002444 0.002727 NA NA NA 6.2664226 1025 6 46623698 46623698 T C exonic SLC25A27 NA synonymous SNV SLC25A27:NM_001204051:exon2:c.T225C:p.A75A,SLC25A27:NM_001204052:exon2:c.T225C:p.A75A,SLC25A27:NM_004277:exon2:c.T225C:p.A75A exonic ENSG00000153291 NA synonymous SNV ENSG00000153291:ENST00000371347:exon2:c.T225C:p.A75A,ENSG00000153291:ENST00000411689:exon2:c.T225C:p.A75A Score=456;Name=lod=95 NA 6p12.3 NA Name=YY1_(C-20),CTCF_(SC-5916),CTCFL_(SC-98982),CTCF,Rad21 Name=18 NA rs3757241 0.86 0.86 0.848 0.885383 0.7575 0.9097 0.8631 0.9705 0.8926 0.76 0.9 0.86 0.97 0.8319 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.577496 1.577496 NA 0.811135 0.951766 NA 0.935 NA 6.2661316 1025 14 45711594 45711594 T C exonic MIS18BP1 NA synonymous SNV MIS18BP1:NM_018353:exon4:c.A786G:p.K262K exonic ENSG00000129534 NA synonymous SNV ENSG00000129534:ENST00000453142:exon1:c.A90G:p.K30K,ENSG00000129534:ENST00000310806:exon4:c.A786G:p.K262K,ENSG00000129534:ENST00000454990:exon4:c.A786G:p.K262K NA NA 14q21.2 NA NA Name=10 NA rs1266209 0.26 0.26 0.278 0.288339 0.1243 0.1389 0.1916 0.6528 0.1871 0.14 0.14 0.18 0.65 0.1669 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.237212 NA NA 0.109419 0.528383 NA 0.232 NA 6.2660476 1025 4 39975758 39975758 C T intronic PDS5A NA NA NA ncRNA_intronic ENSG00000231707 NA NA NA Score=541;Name=lod=211 NA 4p14 NA NA Name=4 NA rs62309249 0.03 0.03 0.039 0.0229633 0.0676 0.001 0.049 0.0015 0.0102 0.07 NA 0.05 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3139 NA NA NA NA NA 0.014 NA 6.2657333 1025 7 133979795 133979795 T C exonic SLC35B4 NA synonymous SNV SLC35B4:NM_032826:exon10:c.A786G:p.T262T exonic ENSG00000205060 NA synonymous SNV ENSG00000205060:ENST00000378509:exon10:c.A786G:p.T262T Score=538;Name=lod=204 NA 7q33 Score=830;Name=V$GR_Q6 NA NA NA rs1421484 0.46 0.46 0.44 0.492612 0.4652 0.2708 0.5793 0.5953 0.5491 0.47 0.27 0.55 0.59 0.476 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431531 NA NA 0.460233 0.602587 NA 0.435 NA 6.2652336 1025 7 124387092 124387092 C G exonic GPR37 NA synonymous SNV GPR37:NM_005302:exon2:c.G1329C:p.L443L exonic ENSG00000170775 NA synonymous SNV ENSG00000170775:ENST00000303921:exon2:c.G1329C:p.L443L Score=558;Name=lod=248 NA 7q31.33 Score=733;Name=V$PAX4_04 NA NA NA rs3735270 0.41 0.41 0.404 0.396765 0.4632 0.5367 0.4409 0.18 0.4458 0.46 0.53 0.42 0.21 0.4541 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056659 NA NA 0.484302 0.238992 ID=COSM1131723;OCCURENCE=1(prostate) 0.362 NA 6.2650646 1026 20 46279827 46279827 G A exonic NCOA3 NA synonymous SNV NCOA3:NM_001174087:exon20:c.G3750A:p.Q1250Q,NCOA3:NM_001174088:exon20:c.G3726A:p.Q1242Q,NCOA3:NM_006534:exon20:c.G3741A:p.Q1247Q,NCOA3:NM_181659:exon20:c.G3753A:p.Q1251Q exonic ENSG00000124151 NA synonymous SNV ENSG00000124151:ENST00000341724:exon19:c.G3531A:p.Q1177Q,ENSG00000124151:ENST00000371997:exon20:c.G3726A:p.Q1242Q,ENSG00000124151:ENST00000371998:exon20:c.G3753A:p.Q1251Q,ENSG00000124151:ENST00000372004:exon20:c.G3741A:p.Q1247Q Score=592;Name=lod=338 NA 20q13.12 NA NA NA NA rs6018623 0.16 0.16 0.193 0.17492 0.1928 0.1617 0.1571 0.1906 0.1616 0.18 0.13 0.12 0.2 0.0977 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284378 NA NA 0.111512 0.192919 NA 0.08 NA 6.2646546 1026 22 42159229 42159229 G T exonic MEI1 NA synonymous SNV MEI1:NM_152513:exon19:c.G2172T:p.S724S exonic ENSG00000167077 NA synonymous SNV ENSG00000167077:ENST00000540880:exon3:c.G126T:p.S42S,ENSG00000167077:ENST00000400107:exon19:c.G276T:p.S92S,ENSG00000167077:ENST00000401548:exon19:c.G2172T:p.S724S,ENSG00000167077:ENST00000540833:exon19:c.G1392T:p.S464S Score=469;Name=lod=107 NA 22q13.2 NA Name=CTCFL_(SC-98982),YY1_(C-20),SMC3_(ab9263),Rad21,CTCF,KAP1,ZNF263,CTCF_(SC-5916),CTCF_(C-20) Name=55 NA rs2050033 0.84 0.84 0.884 0.841254 0.8032 0.9355 0.5893 0.9796 0.7751 0.81 0.94 0.58 0.97 0.7858 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969538 NA NA 0.813178 0.952002 NA 0.862 NA 6.2644886 1026 7 157414064 157414064 G A exonic PTPRN2 NA synonymous SNV PTPRN2:NM_130842:exon14:c.C2283T:p.A761A,PTPRN2:NM_130843:exon14:c.C2247T:p.A749A,PTPRN2:NM_002847:exon15:c.C2334T:p.A778A exonic ENSG00000155093 NA synonymous SNV ENSG00000155093:ENST00000389413:exon14:c.C2247T:p.A749A,ENSG00000155093:ENST00000389416:exon14:c.C2283T:p.A761A,ENSG00000155093:ENST00000409483:exon14:c.C2220T:p.A740A,ENSG00000155093:ENST00000389418:exon15:c.C2334T:p.A778A,ENSG00000155093:ENST00000404321:exon15:c.C2403T:p.A801A NA NA 7q36.3 NA Name=GR,ERalpha_a Name=9 NA rs1130502 0.47 0.47 0.471 0.452676 0.4791 0.3571 0.4539 0.6596 0.2434 0.47 0.33 0.46 0.65 0.4331 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942496 NA NA 0.490233 0.655697 NA 0.652 NA 6.2642336 1026 11 48238880 48238880 C T exonic OR4B1 NA synonymous SNV OR4B1:NM_001005470:exon1:c.C519T:p.D173D exonic ENSG00000175619 NA synonymous SNV ENSG00000175619:ENST00000309562:exon1:c.C519T:p.D173D Score=433;Name=lod=77 NA 11p11.2 NA NA NA NA rs10838833 0.16 0.16 0.16 0.172724 0.1233 0.1637 0.121 0.2859 0.1166 0.12 0.16 0.11 0.26 0.1463 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.187105 NA NA 0.132852 0.266697 NA 0.174 NA 6.2642146 1026 1 218458551 218458551 T C upstream RRP15 NA NA NA upstream ENSG00000067533 NA NA NA NA NA 1q41 Score=781;Name=V$PAX5_02 Name=Pol2,PU.1,RFX5_(N-494),NRSF,SP1,Pol2(phosphoS2),STAT3,YY1,NANOG_(SC-33759),TCF4,SMC3_(ab9263),YY1_(C-20),Sin3Ak-20,BRCA1_(C-1863),BCLAF1_(M33-P5B11),GATA3_(SC-268),Pol2-4H8,Pol2(b),TAF1,eGFP-JunB,JunD,FOSL2,E2F6_(H-50),Znf143_(16618-1-AP),FOXA1_(C-20),POU2F2,ELK4,GABP,USF2,p300,USF-1,TBP,IRF1,GTF2F1_(RAP-74),Max,STAT1,c-Myc,ELF1_(SC-631),FOXA1_(SC-101058),ZEB1_(SC-25388),HEY1,NFKB,PAX5-C20,PAX5-N19,SETDB1,SRF,Oct-2,SIX5 Name=148 NA rs946213 0.42 0.42 0.416 0.466853 0.4026 0.377 0.3242 0.6952 0.4182 0.41 0.32 0.32 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01639 NA NA NA NA NA 0.471 NA 6.2640666 1026 19 45001346 45001346 G A exonic ZNF180 NA nonsynonymous SNV ZNF180:NM_013256:exon2:c.C122T:p.A41V exonic ENSG00000167384 NA nonsynonymous SNV ENSG00000167384:ENST00000221327:exon2:c.C122T:p.A41V,ENSG00000167384:ENST00000391956:exon2:c.C122T:p.A41V,ENSG00000167384:ENST00000586637:exon2:c.C28T:p.P10S,ENSG00000167384:ENST00000587047:exon2:c.C127T:p.P43S,ENSG00000167384:ENST00000590088:exon2:c.C127T:p.P43S,ENSG00000167384:ENST00000591064:exon2:c.C41T:p.A14V,ENSG00000167384:ENST00000592095:exon2:c.C41T:p.A14V,ENSG00000167384:ENST00000592529:exon2:c.C41T:p.A14V NA NA 19q13.31 NA NA NA NA rs2571108 0.3 0.3 0.304 0.260982 0.3857 0.3562 0.1844 0.1498 0.2393 0.4 0.39 0.2 0.14 0.3291 0.4 1 T 0.006 B 0.005 B . . 1.000 P -0.345 N 3.21 T -0.921 T 0.000 T 0.035 1.216 9.934 0.423 0.219 0.391 4.382 1.215647 NA 0.34 0.355465 0.200635 ID=COSM1394477;OCCURENCE=1(large_intestine) 0.333 NA 6.2630684 1026 1 148009510 148009510 G A exonic NBPF14 NA synonymous SNV NBPF14:NM_015383:exon16:c.C1797T:p.S599S exonic ENSG00000122497 NA synonymous SNV ENSG00000122497:ENST00000369219:exon16:c.C1797T:p.S599S NA NA 1q21.2 NA NA Name=5 NA rs1127394 NA NA NA 0.0115815 0.001 0.0506 0.0043 0.0015 0.001 NA NA NA NA 0.4028 0.087 . . . . . . . . 1.000 N . . . . -1.003 T 0.035 T . -0.394 2.154 . . 0.748 . -0.393869 NA NA NA NA ID=COSM146597;OCCURENCE=1(stomach) 0.116 NA 6.2628666 1026 4 123664204 123664204 G A exonic BBS12 NA nonsynonymous SNV BBS12:NM_152618:exon2:c.G1157A:p.R386Q,BBS12:NM_001178007:exon3:c.G1157A:p.R386Q exonic ENSG00000181004 NA nonsynonymous SNV ENSG00000181004:ENST00000314218:exon2:c.G1157A:p.R386Q,ENSG00000181004:ENST00000542236:exon3:c.G1157A:p.R386Q NA NA 4q27 NA NA NA NA rs309370 0.48 0.48 0.462 0.50639 0.3191 0.6597 0.4726 0.584 0.4601 0.32 0.63 0.46 0.55 0.414 0.63 0.59 T 0.003 B 0.002 B 0.556 N 1.000 P 0.345 N -1.22 T -0.952 T 0.000 T 0.047 -0.185 3.101 0.337 0.085 -0.101 2.204 -0.18469 NA 0.6 0.337558 0.562642 NA 0.362 NA 6.2626754 1026 16 53504721 53504721 T C exonic RBL2 NA synonymous SNV RBL2:NM_005611:exon17:c.T2590C:p.L864L exonic ENSG00000103479 NA synonymous SNV ENSG00000103479:ENST00000262133:exon17:c.T2590C:p.L864L Score=710;Name=lod=1028 NA 16q12.2 Score=924;Name=V$NFAT_Q6 NA NA NA rs10748 0.46 0.46 0.475 0.503994 0.4662 0.1786 0.4049 0.8464 0.4857 0.45 0.15 0.45 0.82 0.4528 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.337277 NA NA 0.485698 0.768198 NA 0.63 NA 6.2619686 1026 5 141391532 141391532 G A exonic GNPDA1 NA synonymous SNV GNPDA1:NM_005471:exon2:c.C69T:p.R23R exonic ENSG00000113552 NA synonymous SNV ENSG00000113552:ENST00000508177:exon1:c.C69T:p.R23R,ENSG00000113552:ENST00000311337:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000458112:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000504139:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000505689:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000510194:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000513454:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000542860:exon2:c.C69T:p.R23R,ENSG00000113552:ENST00000500692:exon3:c.C69T:p.R23R,ENSG00000113552:ENST00000503229:exon3:c.C69T:p.R23R,ENSG00000113552:ENST00000503794:exon3:c.C69T:p.R23R,ENSG00000113552:ENST00000504424:exon3:c.C69T:p.R23R Score=531;Name=lod=191 NA 5q31.3 NA Name=ZNF263,Egr-1 NA NA rs164080 0.56 0.56 0.563 0.544728 0.4612 0.625 0.4352 0.671 0.455 0.45 0.65 0.5 0.68 0.4871 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.752941 1.752941 NA 0.456628 0.628915 ID=COSM149957;OCCURENCE=1(stomach) 0.486 NA 6.2617386 1026 1 32221913 32221913 G A exonic BAI2 NA synonymous SNV BAI2:NM_001703:exon4:c.C525T:p.P175P exonic ENSG00000121753 NA synonymous SNV ENSG00000121753:ENST00000398538:exon1:c.C489T:p.P163P,ENSG00000121753:ENST00000420125:exon1:c.C504T:p.P168P,ENSG00000121753:ENST00000398542:exon2:c.C489T:p.P163P,ENSG00000121753:ENST00000398547:exon2:c.C489T:p.P163P,ENSG00000121753:ENST00000398556:exon2:c.C534T:p.P178P,ENSG00000121753:ENST00000527361:exon2:c.C525T:p.P175P,ENSG00000121753:ENST00000533175:exon2:c.C627T:p.P209P,ENSG00000121753:ENST00000257070:exon4:c.C525T:p.P175P,ENSG00000121753:ENST00000373655:exon4:c.C525T:p.P175P,ENSG00000121753:ENST00000373658:exon4:c.C525T:p.P175P NA NA 1p35.2 NA NA Name=5 NA rs4949223 0.1 0.1 0.084 0.136382 0.1133 0.1121 0.1715 0.0333 0.2996 0.12 0.1 0.17 0.03 0.1632 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099533 NA NA 0.128432 0.045847 NA 0.08 NA 6.2617346 1026 1 89426902 89426902 G A exonic CCBL2 NA synonymous SNV CCBL2:NM_001008662:exon7:c.C633T:p.S211S,CCBL2:NM_001008661:exon8:c.C735T:p.S245S exonic ENSG00000137944 NA synonymous SNV ENSG00000137944:ENST00000370491:exon7:c.C633T:p.S211S,ENSG00000137944:ENST00000260508:exon8:c.C735T:p.S245S,ENSG00000137944:ENST00000370486:exon9:c.C735T:p.S245S Score=607;Name=lod=389 NA 1p22.2 NA Name=MafK_(ab50322) NA NA rs3738055 0.42 0.42 0.404 0.369409 0.4771 0.4633 0.5043 0.2307 0.2536 0.45 0.48 0.46 0.28 0.4373 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128962 NA NA 0.490698 0.285293 ID=COSM146554;OCCURENCE=1(stomach) 0.464 NA 6.2615686 1026 17 27286750 27286750 G A exonic SEZ6 NA synonymous SNV SEZ6:NM_001098635:exon8:c.C1737T:p.D579D,SEZ6:NM_178860:exon8:c.C1737T:p.D579D exonic ENSG00000063015 NA synonymous SNV ENSG00000063015:ENST00000540632:exon7:c.C1515T:p.D505D,ENSG00000063015:ENST00000317338:exon8:c.C1737T:p.D579D,ENSG00000063015:ENST00000360295:exon8:c.C1737T:p.D579D,ENSG00000063015:ENST00000442608:exon8:c.C1737T:p.D579D Score=514;Name=lod=164 NA 17q11.2 NA NA NA NA rs9907950 0.15 0.15 0.148 0.141573 0.1402 0.0506 0.1268 0.2632 0.0828 0.12 0.07 0.16 0.27 0.1288 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.421934 2.421934 NA 0.137127 0.226676 NA 0.174 NA 6.2605396 1026 2 33447202 33447202 C T exonic LTBP1 NA synonymous SNV LTBP1:NM_000627:exon5:c.C882T:p.N294N,LTBP1:NM_001166264:exon5:c.C882T:p.N294N,LTBP1:NM_001166265:exon5:c.C882T:p.N294N,LTBP1:NM_001166266:exon5:c.C882T:p.N294N,LTBP1:NM_206943:exon9:c.C1860T:p.N620N exonic ENSG00000049323 NA synonymous SNV ENSG00000049323:ENST00000390003:exon5:c.C882T:p.N294N,ENSG00000049323:ENST00000402934:exon5:c.C882T:p.N294N,ENSG00000049323:ENST00000404525:exon5:c.C882T:p.N294N,ENSG00000049323:ENST00000407925:exon5:c.C882T:p.N294N,ENSG00000049323:ENST00000418533:exon5:c.C882T:p.N294N,ENSG00000049323:ENST00000354476:exon9:c.C1860T:p.N620N,ENSG00000049323:ENST00000404816:exon9:c.C1860T:p.N620N Score=593;Name=lod=343 NA 2p22.3 Score=888;Name=V$FOXO4_02 NA NA NA rs2290448 0.39 0.39 0.362 0.332668 0.4861 0.3323 0.4337 0.1936 0.2914 0.48 0.35 0.44 0.23 0.4312 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82004 NA NA 0.49 0.231276 NA 0.29 NA 6.2593666 1026 19 18496989 18496989 C T UTR5 GDF15 NM_004864:c.-11C>T NA NA UTR5 ENSG00000130513 ENST00000597765:c.-11C>T,ENST00000595973:c.-11C>T,ENST00000252809:c.-11C>T NA NA NA NA 19p13.11 NA Name=CTCF_(C-20),HEY1,TBP,IRF1,TCF12,GTF2B,FOXA1_(C-20),HNF4A_(H-171),TAL1_(SC-12984),FOSL2,Pol2(b),Sin3Ak-20,Pol2-4H8,HDAC2_(SC-6296),YY1,Ini1,HNF4G_(SC-6558),Max,FOXA2_(SC-6554),FOXA1_(SC-101058),Rad21,BAF155,CHD2_(N-1250),GTF2F1_(RAP-74),CEBPB,RXRA,CTCF,p300,E2F4,HMGN3,GABP,ETS1,TAF1,CTCFL_(SC-98982),TAF7_(SQ-8),YY1_(C-20),eGFP-JunD,E2F6,NRSF,NELFe,Pol2,HNF4A,SMC3_(ab9263),TCF4,Pol2(phosphoS2) Name=142 NA rs141542836 0.01 0.01 0.013 0.0181709 0.0268 0.0149 0.0375 0.0053 0.0164 0.02 0.01 0.03 0.002 0.024 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163493 NA NA 0.023372 0.005901 NA NA NA 6.2591614 1026 8 92169778 92169778 G T intronic LRRC69 NA NA NA ncRNA_exonic ENSG00000253525 NA NA NA Score=346;Name=lod=34 NA 8q21.3 NA Name=GATA3_(SC-268) NA NA rs61749013 0.04 0.04 0.025 0.0313498 0.0746 0.003 0.0432 0.0083 0.0389 0.07 0.0035 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310658 NA NA NA NA NA 0.029 NA 6.2587333 1026 8 92170590 92170590 T C intronic LRRC69 NA NA NA ncRNA_exonic ENSG00000253525 NA NA NA Score=494;Name=lod=136 NA 8q21.3 NA NA Name=15 NA rs35275465 0.04 0.04 0.029 0.0311502 0.0746 0.003 0.0432 0.0076 0.0389 0.07 0.0035 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367682 NA NA NA NA NA 0.029 NA 6.2587333 1026 8 92170948 92170948 T C intronic LRRC69 NA NA NA ncRNA_exonic ENSG00000253525 NA NA NA Score=587;Name=lod=325 NA 8q21.3 NA NA Name=15 NA rs35917953 0.04 0.04 0.03 0.0309505 0.0746 0.003 0.0418 0.0076 0.0389 0.07 0.0035 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34572 NA NA NA NA NA 0.029 NA 6.2587333 1026 21 37858951 37858951 C G intronic CLDN14 NA NA NA ncRNA_exonic ENSG00000223741 NA NA NA Score=755;Name=lod=1555 NA 21q22.13 NA NA Name=2 NA rs8132946 0.13 0.13 0.132 0.144968 0.0746 0.0218 0.1239 0.354 0.0767 0.07 0.02 0.13 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525236 NA NA NA NA NA 0.174 NA 6.2587333 1026 21 40191638 40191638 A G exonic ETS2 NA synonymous SNV ETS2:NM_005239:exon8:c.A1023G:p.P341P,ETS2:NM_001256295:exon9:c.A1443G:p.P481P exonic ENSG00000157557 NA synonymous SNV ENSG00000157557:ENST00000360938:exon8:c.A1023G:p.P341P,ENSG00000157557:ENST00000360214:exon9:c.A1023G:p.P341P NA NA 21q22.2 Score=894;Name=V$CEBPB_02 Name=c-Myc,GR Name=95 NA rs461155 0.64 0.64 0.623 0.580671 0.838 0.4563 0.5778 0.5613 0.4724 0.84 0.43 0.63 0.57 0.7228 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85823 NA NA 0.847907 0.61961 NA 0.638 NA 6.2579596 1026 1 185143721 185143721 A G exonic SWT1 NA nonsynonymous SNV SWT1:NM_001105518:exon5:c.A442G:p.I148V,SWT1:NM_017673:exon5:c.A442G:p.I148V exonic ENSG00000116668 NA nonsynonymous SNV ENSG00000116668:ENST00000367500:exon5:c.A442G:p.I148V,ENSG00000116668:ENST00000367501:exon5:c.A442G:p.I148V,ENSG00000116668:ENST00000450350:exon5:c.A442G:p.I148V NA NA 1q25.3 NA NA NA NA rs10489579 0.42 0.42 0.425 0.434704 0.3439 0.2718 0.3487 0.6982 0.4008 0.34 0.33 0.33 0.71 0.3744 0.71 0.64 T 0.001 B 0.001 B 0.919 N 1.000 P 1.735 L 1.17 T -0.924 T 0.000 T 0.125 -0.836 0.583 0.918 -0.149 0.566 1.757 -0.836082 NA 0.23 0.357093 0.635951 NA 0.5 NA 6.2579404 1026 11 64646034 64646034 G C UTR5 EHD1 NM_006795:c.-98C>G NA NA UTR5 ENSG00000110047 ENST00000320631:c.-98C>G NA NA NA NA 11q13.1 NA Name=IRF4_(M-17),MEF2A,TAF7_(SQ-8),YY1_(C-20),SMC3_(ab9263),TCF4,SP1,Pol2,NELFe,HMGN3,POU2F2,Znf143_(16618-1-AP),E2F6_(H-50),TAF1,GTF2F1_(RAP-74),CTCF,Oct-2,Rad21,STAT1,Pol2-4H8,ZNF263,Sin3Ak-20,HA-E2F1,YY1,Ini1,RFX5_(N-494),CTCF_(SC-5916),TAL1_(SC-12984),FOSL2,Pol2(b),IRF1,TBP,TCF12,Nrf1,GTF2B,CTCF_(C-20),PAX5-N19,PAX5-C20,NFKB,ZEB1_(SC-25388),BCL3,HEY1,c-Myc,CCNT2,ZBTB7A_(SC-34508) Name=148 NA rs12801172 0.18 0.18 0.16 0.167931 0.0755 0.4365 0.1009 0.093 0.135 0.07 0.45 0.11 0.12 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894652 NA NA NA NA NA 0.109 NA 6.2578334 1026 1 76190439 76190439 T C UTR5 ACADM NM_001127328:c.-34T>C,NM_000016:c.-34T>C NA NA UTR5 ENSG00000117054 ENST00000370841:c.-34T>C,ENST00000526196:c.-34T>C,ENST00000526129:c.-34T>C,ENST00000370834:c.-34T>C,ENST00000532509:c.-34T>C NA NA NA NA 1p31.1 NA Name=MEF2C_(SC-13268),Egr-1,Ini1,Pol2(phosphoS2),YY1,NANOG_(SC-33759),NRSF,SP1,Pol2,Pol2-4H8,E2F1,HDAC2_(SC-6296),MEF2A,ZNF263,TAF7_(SQ-8),YY1_(C-20),Sin3Ak-20,ETS1,Pol2(b),TAF1,GABP,HMGN3,POU2F2,HNF4A_(H-171),E2F4,RXRA,IRF1,GTF2F1_(RAP-74),TBP,HEY1,BCL3,FOXA2_(SC-6554),NFKB,ELF1_(SC-631),Max,Oct-2 Name=133 NA rs59932454 0.04 0.04 0.036 0.0403355 0.0179 NA 0.0245 0.1225 0.0051 0.01 NA 0.03 0.13 0.0292 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827936 NA NA 0.029651 0.104403 NA 0.014 NA 6.2565824 1026 19 13414594 13414594 C T exonic CACNA1A NA synonymous SNV CACNA1A:NM_001127221:exon16:c.G2094A:p.T698T,CACNA1A:NM_001127222:exon16:c.G2091A:p.T697T exonic ENSG00000141837 NA synonymous SNV ENSG00000141837:ENST00000360228:exon16:c.G2091A:p.T697T,ENSG00000141837:ENST00000573710:exon16:c.G2094A:p.T698T NA NA 19p13.2 NA NA NA NA rs16016 0.17 0.17 0.153 0.185104 0.1203 0.2887 0.2205 0.0673 0.2791 0.11 0.28 0.24 0.08 0.1607 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.484607 NA NA 0.129234 0.082453 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116516.2;CLNDSDB=.;CLNDSDBID=. 6.2564326 1026 13 52603194 52603194 G T exonic UTP14C NA nonsynonymous SNV UTP14C:NM_021645:exon2:c.G254T:p.G85V exonic ENSG00000253797 NA nonsynonymous SNV ENSG00000253797:ENST00000521776:exon2:c.G254T:p.G85V Score=495;Name=lod=137 NA 13q14.3 NA NA NA NA rs3742289 0.62 0.62 0.586 0.58127 0.7237 0.5952 0.6585 0.4584 0.5317 0.71 0.58 0.69 0.45 0.6478 0.71 0.4 T 0.0 B 0.0 B 0.321 N 0.000 P -1.26 N 2.32 T -1.048 T 0.000 T 0.114 0.405 6.201 0.050 -0.133 0.238 3.868 0.405261 NA 0.34 0.706744 0.488652 NA 0.594 NA 6.2550894 1027 16 71712786 71712786 A G exonic PHLPP2 NA synonymous SNV PHLPP2:NM_015020:exon7:c.T1140C:p.F380F exonic ENSG00000040199 NA synonymous SNV ENSG00000040199:ENST00000568004:exon3:c.T354C:p.F118F,ENSG00000040199:ENST00000356272:exon7:c.T1140C:p.F380F,ENSG00000040199:ENST00000360429:exon7:c.T1140C:p.F380F,ENSG00000040199:ENST00000393524:exon7:c.T1140C:p.F380F,ENSG00000040199:ENST00000567016:exon8:c.T1245C:p.F415F,ENSG00000040199:ENST00000568954:exon8:c.T1140C:p.F380F Score=570;Name=lod=277 NA 16q22.2 NA NA NA NA rs61733126 0.12 0.12 0.119 0.160543 0.1302 0.1766 0.0994 0.0121 0.4192 0.13 0.19 0.12 0.02 0.1595 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178018 NA NA 0.122326 0.025478 NA 0.101 NA 6.2546406 1027 1 207110936 207110936 T C exonic PIGR NA synonymous SNV PIGR:NM_002644:exon4:c.A549G:p.V183V exonic ENSG00000162896 NA synonymous SNV ENSG00000162896:ENST00000356495:exon4:c.A549G:p.V183V NA NA 1q32.1 NA Name=PU.1 Name=3 NA rs291096 0.57 0.57 0.599 0.550919 0.4682 0.4474 0.5115 0.9319 0.2556 0.45 0.41 0.56 0.92 0.477 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260777 NA NA 0.467674 0.848616 NA 0.71 NA 6.2537926 1027 2 166535918 166535918 C T exonic CSRNP3 NA synonymous SNV CSRNP3:NM_024969:exon5:c.C1413T:p.T471T,CSRNP3:NM_001172173:exon7:c.C1413T:p.T471T exonic ENSG00000178662 NA synonymous SNV ENSG00000178662:ENST00000342316:exon5:c.C1413T:p.T471T,ENSG00000178662:ENST00000409420:exon5:c.C1509T:p.T503T,ENSG00000178662:ENST00000314499:exon7:c.C1413T:p.T471T Score=559;Name=lod=249 NA 2q24.3 Score=873;Name=V$HLF_01 NA NA NA rs777346 0.41 0.41 0.365 0.369209 0.496 0.372 0.3098 0.3434 0.3129 0.5 0.38 0.36 0.35 0.4297 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248506 NA NA 0.487326 0.374489 NA 0.355 NA 6.2536406 1027 1 109394978 109394978 G A exonic AKNAD1 NA synonymous SNV AKNAD1:NM_152763:exon2:c.C309T:p.D103D exonic ENSG00000162641 NA synonymous SNV ENSG00000162641:ENST00000369994:exon1:c.C309T:p.D103D,ENSG00000162641:ENST00000369995:exon2:c.C309T:p.D103D,ENSG00000162641:ENST00000370001:exon2:c.C309T:p.D103D,ENSG00000162641:ENST00000461774:exon2:c.C309T:p.D103D,ENSG00000162641:ENST00000472781:exon2:c.C309T:p.D103D,ENSG00000162641:ENST00000474186:exon3:c.C309T:p.D103D NA NA 1p13.3 NA NA Name=40 NA rs17563390 0.14 0.14 0.141 0.125 0.1402 0.1369 0.1095 0.1528 0.0706 0.16 0.15 0.1 0.15 0.1308 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149708 NA NA 0.142442 0.153654 NA 0.116 NA 6.2532246 1027 2 241405528 241405528 A G exonic GPC1 NA nonsynonymous SNV GPC1:NM_002081:exon9:c.A1498G:p.S500G exonic ENSG00000063660 NA nonsynonymous SNV ENSG00000063660:ENST00000264039:exon9:c.A1498G:p.S500G NA NA 2q37.3 NA NA NA NA rs2228331 0.64 0.64 0.658 0.664337 0.7048 0.3383 0.6484 0.9244 0.6186 0.69 0.33 0.68 0.91 0.6642 0.91 1 T 0.0 B 0.0 B . . 1.000 P -1.145 N 0.83 T -0.972 T 0.000 T 0.333 -2.325 0.004 1.97 -0.045 1.350 7.969 -2.325179 NA 0.59 0.71191 0.893327 NA 0.674 NA 6.2524234 1027 2 113956371 113956371 G C exonic PSD4 NA synonymous SNV PSD4:NM_012455:exon15:c.G2679C:p.T893T exonic ENSG00000125637 NA synonymous SNV ENSG00000125637:ENST00000245796:exon15:c.G2679C:p.T893T,ENSG00000125637:ENST00000441564:exon15:c.G2592C:p.T864T NA NA 2q13 NA Name=ZNF263 Name=20 NA rs2276561 0.46 0.46 0.434 0.441494 0.4692 0.6498 0.5288 0.1838 0.4847 0.47 0.63 0.49 0.2 0.4869 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.402904 NA NA 0.458264 0.214912 NA 0.413 NA 6.2523026 1027 20 3624848 3624848 C T exonic ATRN NA synonymous SNV ATRN:NM_139321:exon28:c.C4098T:p.A1366A exonic ENSG00000088812 NA synonymous SNV ENSG00000088812:ENST00000262919:exon28:c.C4098T:p.A1366A Score=561;Name=lod=255 NA 20p13 NA NA NA NA rs34398666 0.08 0.08 0.074 0.0557109 0.169 NA 0.1037 0.0136 0.0194 0.17 NA 0.09 0.01 0.1004 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.585012 1.585012 NA 0.145465 0.036087 NA 0.196 NA 6.2518016 1027 19 33617583 33617583 C T exonic GPATCH1 NA synonymous SNV GPATCH1:NM_018025:exon19:c.C2709T:p.S903S exonic ENSG00000076650 NA synonymous SNV ENSG00000076650:ENST00000170564:exon19:c.C2709T:p.S903S Score=366;Name=lod=41 NA 19q13.11 NA NA NA NA rs6510356 0.19 0.19 0.209 0.259185 0.1163 0.1716 0.134 0.4387 0.3425 0.12 0.13 0.14 0.42 0.1817 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64748 NA NA 0.117209 0.4133 NA 0.203 NA 6.2514576 1027 11 36472800 36472800 A G exonic PRR5L NA synonymous SNV PRR5L:NM_001160168:exon5:c.A243G:p.Q81Q,PRR5L:NM_001160167:exon8:c.A627G:p.Q209Q,PRR5L:NM_024841:exon9:c.A627G:p.Q209Q exonic ENSG00000135362 NA synonymous SNV ENSG00000135362:ENST00000311599:exon8:c.A408G:p.Q136Q,ENSG00000135362:ENST00000530639:exon8:c.A627G:p.Q209Q,ENSG00000135362:ENST00000378867:exon9:c.A627G:p.Q209Q Score=511;Name=lod=159 NA 11p12 NA NA NA NA rs3740958 0.18 0.18 0.187 0.204673 0.1282 0.377 0.111 0.1679 0.2219 0.13 0.34 0.1 0.16 0.1579 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179865 NA NA 0.129246 0.163488 NA 0.123 NA 6.2513206 1027 9 74360209 74360209 G C exonic TMEM2 NA synonymous SNV TMEM2:NM_001135820:exon4:c.C759G:p.P253P,TMEM2:NM_013390:exon4:c.C759G:p.P253P exonic ENSG00000135048 NA synonymous SNV ENSG00000135048:ENST00000377044:exon4:c.C759G:p.P253P,ENSG00000135048:ENST00000377066:exon4:c.C759G:p.P253P,ENSG00000135048:ENST00000542935:exon4:c.C759G:p.P253P NA NA 9q21.13 Score=981;Name=V$P53_02 NA NA NA rs3739783 0.12 0.12 0.1 0.125599 0.1421 0.1577 0.2046 0.0348 0.1421 0.14 0.16 0.14 0.04 0.1411 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690823 NA NA 0.132558 0.047208 ID=COSM150616;OCCURENCE=1(stomach) 0.138 NA 6.2509086 1027 7 21824122 21824122 G A exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon58:c.G9561A:p.L3187L exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000409508:exon58:c.G9561A:p.L3187L,ENSG00000105877:ENST00000328843:exon59:c.G9582A:p.L3194L Score=403;Name=lod=58 NA 7p15.3 NA NA NA NA rs6965750 0.12 0.12 0.118 0.129193 0.1392 0.0615 0.072 0.2277 0.0961 0.15 0.05 0.07 0.19 0.1341 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.020001 NA NA 0.142737 0.177115 NA 0.167 NA 6.2506296 1027 2 136562472 136562472 G A exonic LCT NA synonymous SNV LCT:NM_002299:exon10:c.C4329T:p.G1443G exonic ENSG00000115850 NA synonymous SNV ENSG00000115850:ENST00000452974:exon4:c.C2625T:p.G875G,ENSG00000115850:ENST00000264162:exon10:c.C4329T:p.G1443G NA NA 2q21.3 Score=942;Name=V$P53_02 NA NA NA rs3739022 0.2 0.2 0.213 0.243211 0.1501 0.2153 0.2839 0.2239 0.365 0.14 0.21 0.23 0.24 0.1686 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652362 NA NA 0.097442 0.20926 NA 0.181 NA 6.2505246 1027 5 113698544 113698544 G C exonic KCNN2 NA synonymous SNV KCNN2:NM_021614:exon1:c.G72C:p.L24L exonic ENSG00000080709 NA synonymous SNV ENSG00000080709:ENST00000264773:exon1:c.G72C:p.L24L,ENSG00000080709:ENST00000512097:exon2:c.G72C:p.L24L Score=869;Name=lod=4513 NA 5q22.3 Score=908;Name=V$ELK1_02 NA NA NA rs40179 0.55 0.55 0.486 0.539736 0.4602 0.8512 0.5346 0.3396 0.5746 0.47 0.88 0.51 0.34 0.511 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992624 NA NA 0.445389 0.37483 NA 0.341 NA 6.2500776 1027 22 45767369 45767369 A G exonic SMC1B NA synonymous SNV SMC1B:NM_148674:exon14:c.T2295C:p.F765F exonic ENSG00000077935 NA synonymous SNV ENSG00000077935:ENST00000357450:exon14:c.T2295C:p.F765F,ENSG00000077935:ENST00000404354:exon14:c.T2295C:p.F765F Score=300;Name=lod=22 NA 22q13.31 NA NA NA NA rs470062 0.13 0.13 0.119 0.166933 0.1332 0.1746 0.1427 0.1309 0.2597 0.13 0.14 0.15 0.12 0.1575 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234371 NA NA 0.12592 0.131071 NA 0.268 NA 6.2500466 1027 8 125463083 125463083 G T UTR5 TRMT12 NM_017956:c.-86G>T NA NA UTR5 ENSG00000183665 ENST00000328599:c.-86G>T NA NA NA NA 8q24.13 NA Name=p300,Oct-2,ELF1_(SC-631),Max,TR4,TAF7_(SQ-8),BRCA1_(C-1863),YY1_(C-20),Pol2(phosphoS2),SP1,PU.1,Pol2,GABP,POU2F2,Znf143_(16618-1-AP),GATA-1,TAF1,TBP,Nrf1,THAP1_(SC-98174),SIX5,NFKB,HEY1,c-Myc,Pol2-4H8,YY1,ELK4 Name=146 NA rs3812473 0.1 0.1 0.089 0.0930511 0.0835 0.1438 0.0461 0.1165 0.0521 0.08 0.13 0.06 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609985 NA NA NA NA NA 0.072 NA 6.2498334 1027 18 21119777 21119777 G A exonic NPC1 NA synonymous SNV NPC1:NM_000271:exon18:c.C2793T:p.N931N exonic ENSG00000141458 NA synonymous SNV ENSG00000141458:ENST00000412552:exon11:c.C1839T:p.N613N,ENSG00000141458:ENST00000269228:exon18:c.C2793T:p.N931N Score=470;Name=lod=108 NA 18q11.2 NA NA NA NA rs1140458 0.5 0.5 0.469 0.484026 0.4573 0.6111 0.611 0.3646 0.4519 0.46 0.64 0.56 0.36 0.4902 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.334488 2.334488 NA 0.469767 0.38788 ID=COSM437978;OCCURENCE=1(breast) 0.5 CLINSIG=non-pathogenic|other;CLNDBN=Niemann-Pick_disease_type_C1|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000020228.2|RCV000078475.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK1296:C3179455:257220:ORPHA646|. 6.2493996 1027 3 119133554 119133554 G A exonic ARHGAP31 NA synonymous SNV ARHGAP31:NM_020754:exon12:c.G2778A:p.A926A exonic ENSG00000031081 NA synonymous SNV ENSG00000031081:ENST00000264245:exon12:c.G2778A:p.A926A Score=597;Name=lod=356 NA 3q13.33 NA NA NA NA rs61740281 0.12 0.12 0.1 0.129792 0.1471 0.0863 0.1282 0.1263 0.1626 0.14 0.08 0.14 0.12 0.1369 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.312052 NA NA 0.133285 0.113986 NA 0.08 NA 6.2493816 1027 11 69252000 69252000 G A intergenic MYEOV,CCND1 dist=187246;dist=203873 NA NA intergenic ENSG00000255980,ENSG00000255606 dist=7611;dist=1133 NA NA Score=343;Name=lod=33 NA 11q13.3 NA Name=USF2,Mxi1_(bHLH),SMC3_(ab9263),GR,Max,CTCF,p300,CEBPB,AP-2alpha,FOXA1_(C-20),ERalpha_a,c-Myc,AP-2gamma Name=56 NA rs11263441 0.21 0.21 0.177 0.227636 0.0845 0.5228 0.2579 0.084 0.2434 0.08 0.5 0.21 0.09 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597957 NA NA NA NA NA 0.123 NA 6.2488334 1027 9 33386526 33386526 G A exonic AQP7 NA synonymous SNV AQP7:NM_001170:exon5:c.C282T:p.N94N exonic ENSG00000165269 NA synonymous SNV ENSG00000165269:ENST00000379503:exon2:c.C90T:p.N30N,ENSG00000165269:ENST00000439678:exon2:c.C6T:p.N2N,ENSG00000165269:ENST00000379506:exon3:c.C279T:p.N93N,ENSG00000165269:ENST00000379507:exon3:c.C279T:p.N93N,ENSG00000165269:ENST00000377425:exon4:c.C111T:p.N37N,ENSG00000165269:ENST00000537089:exon4:c.C6T:p.N2N,ENSG00000165269:ENST00000541274:exon4:c.C6T:p.N2N,ENSG00000165269:ENST00000297988:exon5:c.C282T:p.N94N,ENSG00000165269:ENST00000539936:exon5:c.C282T:p.N94N NA NA 9p13.3 Score=813;Name=V$PAX4_01 NA NA NA rs79202054 NA NA 0.31 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.4188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425966 NA NA NA NA NA NA NA 6.2478666 1027 1 21900171 21900171 A G exonic ALPL NA synonymous SNV ALPL:NM_001177520:exon7:c.A645G:p.P215P,ALPL:NM_001127501:exon8:c.A711G:p.P237P,ALPL:NM_000478:exon9:c.A876G:p.P292P exonic ENSG00000162551 NA synonymous SNV ENSG00000162551:ENST00000539907:exon7:c.A645G:p.P215P,ENSG00000162551:ENST00000425315:exon8:c.A876G:p.P292P,ENSG00000162551:ENST00000540617:exon8:c.A711G:p.P237P,ENSG00000162551:ENST00000374832:exon9:c.A876G:p.P292P,ENSG00000162551:ENST00000374840:exon9:c.A876G:p.P292P NA NA 1p36.12 Score=814;Name=V$ER_Q6 NA NA NA rs3200255 0.28 0.28 0.254 0.271565 0.1252 0.4474 0.2709 0.2821 0.227 0.13 0.49 0.26 0.29 0.1803 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177743 NA NA 0.113372 0.25783 NA 0.167 NA 6.2477946 1027 2 219610433 219610433 A G exonic TTLL4 NA synonymous SNV TTLL4:NM_014640:exon7:c.A1806G:p.E602E exonic ENSG00000135912 NA synonymous SNV ENSG00000135912:ENST00000258398:exon5:c.A1806G:p.E602E,ENSG00000135912:ENST00000457313:exon6:c.A1311G:p.E437E,ENSG00000135912:ENST00000392102:exon7:c.A1806G:p.E602E,ENSG00000135912:ENST00000442769:exon7:c.A1806G:p.E602E Score=532;Name=lod=193 NA 2q35 Score=809;Name=V$OLF1_01 NA NA NA rs586194 0.48 0.48 0.516 0.489217 0.4672 0.1409 0.438 0.9168 0.3292 0.47 0.16 0.43 0.92 0.4764 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593953 NA NA 0.475814 0.845665 NA 0.616 NA 6.2472526 1027 1 53250650 53250650 G A exonic ZYG11B NA synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G exonic ENSG00000162378 NA synonymous SNV ENSG00000162378:ENST00000294353:exon5:c.G1194A:p.G398G,ENSG00000162378:ENST00000443756:exon5:c.G1194A:p.G398G,ENSG00000162378:ENST00000545132:exon5:c.G1194A:p.G398G Score=618;Name=lod=435 NA 1p32.3 Score=671;Name=V$P53_01 NA NA NA rs6588443 0.71 0.71 0.724 0.714856 0.4284 0.9792 0.6729 0.9077 0.5061 0.43 0.98 0.62 0.9 0.5462 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237682 1.237682 NA 0.444884 0.825011 NA 0.739 NA 6.2471826 1027 13 78216915 78216915 C T exonic SCEL NA synonymous SNV SCEL:NM_001160706:exon30:c.C1896T:p.H632H,SCEL:NM_003843:exon31:c.C1962T:p.H654H,SCEL:NM_144777:exon32:c.C2022T:p.H674H exonic ENSG00000136155 NA synonymous SNV ENSG00000136155:ENST00000535157:exon30:c.C1896T:p.H632H,ENSG00000136155:ENST00000377246:exon31:c.C1962T:p.H654H,ENSG00000136155:ENST00000349847:exon32:c.C2022T:p.H674H Score=548;Name=lod=226 NA 13q22.3 NA NA NA NA rs2813739 0.14 0.14 0.141 0.150759 0.1252 0.1409 0.1556 0.1626 0.1677 0.12 0.14 0.17 0.15 0.1501 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80976 NA NA 0.144253 0.170222 NA 0.196 NA 6.2471136 1027 16 68712730 68712730 C A exonic CDH3 NA synonymous SNV CDH3:NM_001793:exon6:c.C612A:p.I204I exonic ENSG00000062038 NA synonymous SNV ENSG00000062038:ENST00000581171:exon5:c.C447A:p.I149I,ENSG00000062038:ENST00000264012:exon6:c.C612A:p.I204I,ENSG00000062038:ENST00000429102:exon6:c.C612A:p.I204I NA NA 16q22.1 Score=814;Name=V$PBX1_02 NA NA NA rs8049247 0.14 0.14 0.159 0.139776 0.1471 0.002 0.0865 0.32 0.0685 0.14 NA 0.11 0.34 0.132 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.093349 NA NA 0.141395 0.284804 NA 0.152 NA 6.2461716 1027 1 235392546 235392546 T C exonic ARID4B NA synonymous SNV ARID4B:NM_001206794:exon11:c.A897G:p.E299E,ARID4B:NM_016374:exon11:c.A897G:p.E299E,ARID4B:NM_031371:exon11:c.A897G:p.E299E exonic ENSG00000054267 NA synonymous SNV ENSG00000054267:ENST00000264183:exon11:c.A897G:p.E299E,ENSG00000054267:ENST00000349213:exon11:c.A897G:p.E299E,ENSG00000054267:ENST00000366603:exon11:c.A897G:p.E299E,ENSG00000054267:ENST00000418304:exon11:c.A897G:p.E299E,ENSG00000054267:ENST00000421364:exon11:c.A897G:p.E299E Score=543;Name=lod=215 NA 1q42.3 NA NA Name=6 NA rs12731746 0.43 0.43 0.408 0.448682 0.4791 0.251 0.5086 0.4342 0.5982 0.49 0.27 0.5 0.46 0.4783 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.294876 2.294876 NA 0.46314 0.467544 NA 0.536 NA 6.2461266 1027 18 706558 706558 C T exonic ENOSF1 NA synonymous SNV ENOSF1:NM_017512:exon2:c.G105A:p.S35S,ENOSF1:NM_202758:exon2:c.G168A:p.S56S exonic ENSG00000132199 NA synonymous SNV ENSG00000132199:ENST00000251101:exon2:c.G105A:p.S35S,ENSG00000132199:ENST00000340116:exon2:c.G168A:p.S56S,ENSG00000132199:ENST00000539164:exon2:c.G105A:p.S35S,ENSG00000132199:ENST00000580982:exon2:c.G105A:p.S35S,ENSG00000132199:ENST00000581475:exon2:c.G105A:p.S35S,ENSG00000132199:ENST00000584453:exon2:c.G105A:p.S35S NA NA 18p11.32 NA NA Name=2 NA rs58085394 0.13 0.13 0.131 0.102636 0.1581 0.2391 0.0778 0.0083 0.0501 0.15 0.22 0.1 0.01 0.1244 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170513 NA NA 0.13814 0.027463 NA 0.087 NA 6.2460266 1027 6 44982593 44982593 G A exonic SUPT3H NA synonymous SNV SUPT3H:NM_003599:exon5:c.C309T:p.I103I,SUPT3H:NM_181356:exon7:c.C342T:p.I114I exonic ENSG00000196284 NA synonymous SNV ENSG00000196284:ENST00000306867:exon4:c.C309T:p.I103I,ENSG00000196284:ENST00000371459:exon5:c.C309T:p.I103I,ENSG00000196284:ENST00000371461:exon5:c.C342T:p.I114I,ENSG00000196284:ENST00000475057:exon5:c.C309T:p.I103I,ENSG00000196284:ENST00000371460:exon7:c.C342T:p.I114I Score=611;Name=lod=407 NA 6p21.1 NA NA NA NA rs12528232 0.16 0.16 0.123 0.142572 0.1282 0.252 0.255 0.0242 0.1247 0.13 0.28 0.23 0.03 0.1616 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148739 NA NA 0.131426 0.044959 NA 0.138 NA 6.2454406 1027 12 48527186 48527186 C T exonic PFKM NA synonymous SNV PFKM:NM_001166688:exon5:c.C516T:p.T172T,PFKM:NM_000289:exon6:c.C516T:p.T172T,PFKM:NM_001166687:exon6:c.C516T:p.T172T,PFKM:NM_001166686:exon8:c.C729T:p.T243T exonic ENSG00000152556 NA synonymous SNV ENSG00000152556:ENST00000547587:exon5:c.C516T:p.T172T,ENSG00000152556:ENST00000312352:exon6:c.C516T:p.T172T,ENSG00000152556:ENST00000359794:exon6:c.C516T:p.T172T,ENSG00000152556:ENST00000395233:exon6:c.C516T:p.T172T,ENSG00000152556:ENST00000551804:exon6:c.C516T:p.T172T,ENSG00000152556:ENST00000340802:exon8:c.C729T:p.T243T Score=587;Name=lod=324 NA 12q13.11 NA NA NA NA rs1049392 0.19 0.19 0.207 0.187899 0.1382 0.1399 0.111 0.3396 0.138 0.14 0.17 0.1 0.34 0.1485 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151352 NA NA 0.134884 0.318883 NA 0.239 NA 6.2450826 1028 9 33386511 33386511 A G exonic AQP7 NA synonymous SNV AQP7:NM_001170:exon5:c.T297C:p.F99F exonic ENSG00000165269 NA synonymous SNV ENSG00000165269:ENST00000379503:exon2:c.T105C:p.F35F,ENSG00000165269:ENST00000439678:exon2:c.T21C:p.F7F,ENSG00000165269:ENST00000379506:exon3:c.T294C:p.F98F,ENSG00000165269:ENST00000379507:exon3:c.T294C:p.F98F,ENSG00000165269:ENST00000377425:exon4:c.T126C:p.F42F,ENSG00000165269:ENST00000537089:exon4:c.T21C:p.F7F,ENSG00000165269:ENST00000541274:exon4:c.T21C:p.F7F,ENSG00000165269:ENST00000297988:exon5:c.T297C:p.F99F,ENSG00000165269:ENST00000539936:exon5:c.T297C:p.F99F NA NA 9p13.3 Score=722;Name=V$HOX13_01 NA NA NA rs72707424 NA NA 0.23 NA NA NA NA NA NA NA NA NA NA 0.4223 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19119 NA NA NA NA NA NA NA 6.2443666 1028 20 62737318 62737318 G A exonic NPBWR2 NA synonymous SNV NPBWR2:NM_005286:exon1:c.C867T:p.P289P exonic ENSG00000125522 NA synonymous SNV ENSG00000125522:ENST00000369768:exon1:c.C867T:p.P289P Score=429;Name=lod=74 NA 20q13.33 Score=969;Name=V$P53_02 NA NA NA rs13036542 0.5 0.5 0.48 0.448682 0.4821 0.6091 0.5245 0.348 0.3313 0.48 0.6 0.54 0.37 0.4697 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745494 NA NA 0.470568 0.360808 NA 0.377 NA 6.2442986 1028 6 29691303 29691303 G A exonic HLA-F NA synonymous SNV HLA-F:NM_001098478:exon1:c.G63A:p.A21A,HLA-F:NM_001098479:exon1:c.G63A:p.A21A,HLA-F:NM_018950:exon1:c.G63A:p.A21A exonic ENSG00000204642 NA synonymous SNV ENSG00000204642:ENST00000259951:exon1:c.G63A:p.A21A,ENSG00000204642:ENST00000334668:exon1:c.G63A:p.A21A,ENSG00000204642:ENST00000414333:exon1:c.G63A:p.A21A,ENSG00000204642:ENST00000434407:exon1:c.G63A:p.A21A,ENSG00000204642:ENST00000376861:exon2:c.G63A:p.A21A NA NA 6p22.1 NA Name=TAF1,POU2F2,YY1,Pol2,RFX5_(N-494),Pol2-4H8,Oct-2,CTCF,TBP NA NA rs2076183 0.19 0.19 0.182 0.23103 0.1193 0.2917 0.1628 0.2632 0.2883 0.12 0.27 0.15 0.24 0.1783 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919825 NA NA 0.124815 0.232155 NA 0.232 NA 6.2442516 1028 4 89397091 89397091 A G exonic HERC5 NA nonsynonymous SNV HERC5:NM_016323:exon12:c.A1492G:p.M498V exonic ENSG00000138646 NA nonsynonymous SNV ENSG00000138646:ENST00000508159:exon6:c.A406G:p.M136V,ENSG00000138646:ENST00000264350:exon12:c.A1492G:p.M498V NA NA 4q22.1 NA NA NA NA rs7699006 0.57 0.57 0.571 0.613019 0.335 0.8026 0.4914 0.8101 0.5235 0.33 0.78 0.44 0.79 0.4403 0.79 1 T 0.0 B 0.0 B 0.094 N 1.000 P -1.15 N 1.45 T -0.970 T 0.000 T 0.013 -1.496 0.017 -0.085 -0.162 -0.303 8.613 -1.495983 NA 1 0.31407 0.72946 NA 0.601 NA 6.2439634 1028 16 74366531 74366531 A C ncRNA_exonic LOC283922 NA NA NA ncRNA_exonic ENSG00000214331 NA NA NA Score=576;Name=lod=292 NA 16q23.1 Score=880;Name=V$OCT_C NA NA NA rs3743922 NA NA 0.27 NA NA NA NA NA NA NA NA NA NA 0.4232 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893467 NA NA NA NA NA NA NA 6.2434666 1028 3 33434831 33434831 G A exonic UBP1 NA synonymous SNV UBP1:NM_001128160:exon13:c.C1398T:p.T466T,UBP1:NM_014517:exon14:c.C1506T:p.T502T,UBP1:NM_001128161:exon15:c.C1506T:p.T502T exonic ENSG00000153560 NA synonymous SNV ENSG00000153560:ENST00000447368:exon13:c.C1398T:p.T466T,ENSG00000153560:ENST00000283629:exon14:c.C1506T:p.T502T,ENSG00000153560:ENST00000283628:exon15:c.C1506T:p.T502T Score=596;Name=lod=352 NA 3p22.3 Score=772;Name=V$STAT5A_02 NA NA NA rs2293250 0.53 0.53 0.511 0.540136 0.4732 0.6141 0.6326 0.5552 0.4468 0.49 0.55 0.6 0.54 0.5018 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.173387 NA NA 0.448372 0.577167 NA 0.536 NA 6.2432946 1028 9 133911706 133911706 C T exonic LAMC3 NA synonymous SNV LAMC3:NM_006059:exon4:c.C963T:p.A321A exonic ENSG00000050555 NA synonymous SNV ENSG00000050555:ENST00000361069:exon4:c.C963T:p.A321A Score=476;Name=lod=115 NA 9q34.12 NA NA NA NA rs2275131 0.46 0.46 0.439 0.398363 0.4791 0.6647 0.4885 0.1641 0.2935 0.48 0.64 0.49 0.2 0.4558 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373783 NA NA 0.488573 0.216925 ID=COSM455480;OCCURENCE=1(breast) 0.355 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117484.2;CLNDSDB=.;CLNDSDBID=. 6.2431936 1028 12 6709059 6709059 G A exonic CHD4 NA synonymous SNV CHD4:NM_001273:exon10:c.C1362T:p.V454V exonic ENSG00000111642 NA synonymous SNV ENSG00000111642:ENST00000309577:exon10:c.C1362T:p.V454V,ENSG00000111642:ENST00000357008:exon10:c.C1362T:p.V454V,ENSG00000111642:ENST00000544040:exon10:c.C1341T:p.V447V,ENSG00000111642:ENST00000544484:exon10:c.C1353T:p.V451V Score=602;Name=lod=372 NA 12p13.31 NA NA NA NA rs11539542 0.09 0.09 0.089 0.0980431 0.1322 0.004 0.0634 0.1278 0.1442 0.13 0.0017 0.08 0.14 0.129 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894588 NA NA 0.162326 0.130277 NA 0.116 NA 6.2431406 1028 5 96127833 96127833 G A exonic ERAP1 NA synonymous SNV ERAP1:NM_001040458:exon8:c.C1251T:p.H417H,ERAP1:NM_001198541:exon8:c.C1251T:p.H417H,ERAP1:NM_016442:exon8:c.C1251T:p.H417H exonic ENSG00000164307 NA synonymous SNV ENSG00000164307:ENST00000296754:exon8:c.C1251T:p.H417H,ENSG00000164307:ENST00000443439:exon8:c.C1251T:p.H417H Score=407;Name=lod=60 NA 5q15 NA NA NA NA rs3213809 0.09 0.09 0.063 0.096845 0.1481 0.0268 0.2507 0.0144 0.1186 0.14 0.03 0.22 0.01 0.1318 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.070161 NA NA 0.144186 0.032002 NA 0.181 NA 6.2425806 1028 4 55130078 55130078 T C exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon4:c.T612C:p.N204N exonic ENSG00000134853 NA synonymous SNV ENSG00000134853:ENST00000257290:exon4:c.T612C:p.N204N,ENSG00000134853:ENST00000508170:exon4:c.T612C:p.N204N,ENSG00000134853:ENST00000509490:exon4:c.T612C:p.N204N NA NA 4q12 Score=896;Name=V$FREAC7_01 NA NA NA rs2229307 0.2 0.2 0.201 0.236222 0.1233 0.2034 0.3487 0.2776 0.2505 0.13 0.21 0.27 0.25 0.1796 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006372 NA NA 0.121395 0.250113 NA 0.268 NA 6.2423716 1028 19 55879872 55879872 C T exonic IL11 NA synonymous SNV IL11:NM_001267718:exon2:c.G9A:p.A3A,IL11:NM_000641:exon3:c.G246A:p.A82A exonic ENSG00000095752 NA synonymous SNV ENSG00000095752:ENST00000587093:exon2:c.G9A:p.A3A,ENSG00000095752:ENST00000590625:exon2:c.G9A:p.A3A,ENSG00000095752:ENST00000264563:exon3:c.G246A:p.A82A,ENSG00000095752:ENST00000585513:exon3:c.G246A:p.A82A NA Name=Response to antidepressants 19q13.42 Score=770;Name=V$YY1_02 NA NA NA rs1126757 0.43 0.43 0.379 0.394369 0.4722 0.7093 0.4452 0.0234 0.455 0.49 0.7 0.41 0.04 0.4829 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345607 NA NA 0.469419 0.095325 NA 0.348 NA 6.2421476 1028 6 1742794 1742794 A G exonic GMDS NA synonymous SNV GMDS:NM_001253846:exon8:c.T708C:p.D236D,GMDS:NM_001500:exon8:c.T798C:p.D266D exonic ENSG00000112699 NA synonymous SNV ENSG00000112699:ENST00000380815:exon8:c.T798C:p.D266D,ENSG00000112699:ENST00000530927:exon8:c.T708C:p.D236D Score=582;Name=lod=309 NA 6p25.3 Score=867;Name=V$YY1_01 NA NA NA rs3734739 0.48 0.48 0.445 0.486821 0.4901 0.6607 0.4726 0.2867 0.5849 0.49 0.63 0.48 0.29 0.4831 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608802 NA NA 0.451744 0.31389 NA 0.486 NA 6.2417226 1028 9 138515991 138515991 A G exonic GLT6D1 NA synonymous SNV GLT6D1:NM_182974:exon5:c.T783C:p.T261T exonic ENSG00000204007 NA synonymous SNV ENSG00000204007:ENST00000371763:exon5:c.T783C:p.T261T Score=300;Name=lod=22 NA 9q34.3 NA NA NA NA rs12351198 0.16 0.16 0.159 0.164137 0.1362 0.2183 0.1902 0.1694 0.1115 0.13 0.21 0.2 0.13 0.1498 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.32775 NA NA 0.139785 0.147443 NA 0.188 NA 6.2408816 1028 19 35612168 35612168 T A exonic FXYD3 NA nonsynonymous SNV FXYD3:NM_001136010:exon5:c.T116A:p.L39H,FXYD3:NM_001136009:exon6:c.T116A:p.L39H exonic ENSG00000089356 NA nonsynonymous SNV ENSG00000089356:ENST00000603449:exon4:c.T116A:p.L39H,ENSG00000089356:ENST00000454903:exon5:c.T116A:p.L39H,ENSG00000089356:ENST00000605552:exon5:c.T116A:p.L39H NA NA 19q13.12 NA NA NA NA rs1688016 0.31 0.31 0.292 0.35603 0.3698 0.2679 0.2493 0.2958 0.59 0.38 0.24 0.23 0.32 0.3665 0.38 . . 0.0 B 0.0 B . . 1.000 P . . . . -0.924 T 0.000 T 0.026 -0.256 2.768 0.693 -0.034 -0.057 2.532 -0.256355 NA 0 0.356512 0.316841 NA 0.37 NA 6.2405214 1028 6 41658566 41658566 C T exonic TFEB NA synonymous SNV TFEB:NM_001167827:exon3:c.G345A:p.G115G,TFEB:NM_001271944:exon3:c.G303A:p.G101G,TFEB:NM_001271945:exon3:c.G303A:p.G101G,TFEB:NM_007162:exon4:c.G303A:p.G101G exonic ENSG00000112561 NA synonymous SNV ENSG00000112561:ENST00000343317:exon2:c.G561A:p.G187G,ENSG00000112561:ENST00000358871:exon3:c.G345A:p.G115G,ENSG00000112561:ENST00000373033:exon3:c.G303A:p.G101G,ENSG00000112561:ENST00000394283:exon3:c.G303A:p.G101G,ENSG00000112561:ENST00000403298:exon3:c.G303A:p.G101G,ENSG00000112561:ENST00000416140:exon3:c.G303A:p.G101G,ENSG00000112561:ENST00000419396:exon3:c.G303A:p.G101G,ENSG00000112561:ENST00000419574:exon3:c.G303A:p.G101G,ENSG00000112561:ENST00000230323:exon4:c.G303A:p.G101G Score=512;Name=lod=160 NA 6p21.1 NA NA NA NA rs2273068 0.12 0.12 0.101 0.110224 0.1521 0.1488 0.085 0.059 0.1145 0.15 0.15 0.09 0.06 0.1385 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004688 NA NA 0.135814 0.087154 NA 0.065 NA 6.2402526 1028 6 90499502 90499502 G A exonic MDN1 NA synonymous SNV MDN1:NM_014611:exon7:c.C1227T:p.D409D exonic ENSG00000112159 NA synonymous SNV ENSG00000112159:ENST00000369393:exon7:c.C1227T:p.D409D,ENSG00000112159:ENST00000428876:exon7:c.C1227T:p.D409D,ENSG00000112159:ENST00000439638:exon7:c.C1227T:p.D409D Score=610;Name=lod=402 NA 6q15 NA NA NA NA rs1036853 0.08 0.08 0.067 0.0904553 0.1581 0.0496 0.0922 0.0053 0.1769 0.15 0.04 0.09 0.01 0.124 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404408 NA NA 0.144535 0.028824 NA 0.123 NA 6.2400316 1028 19 22363493 22363493 G A exonic ZNF676 NA synonymous SNV ZNF676:NM_001001411:exon3:c.C1026T:p.C342C exonic ENSG00000196109 NA synonymous SNV ENSG00000196109:ENST00000397121:exon3:c.C1026T:p.C342C Score=289;Name=lod=20 NA 19p12 NA NA NA NA rs78855594 NA NA 0.32 NA NA NA NA NA NA NA NA NA NA 0.4281 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402858 NA NA NA NA NA 0.384 NA 6.2385666 1028 17 293138 293138 G A exonic FAM101B NA unknown UNKNOWN exonic ENSG00000183688 NA synonymous SNV ENSG00000183688:ENST00000329099:exon2:c.C252T:p.F84F Score=422;Name=lod=69 NA 17p13.3 NA NA NA NA rs8069166 0.04 0.04 0.045 0.053115 0.0239 0.0516 0.0259 0.0794 0.0685 0.03 0.04 0.02 0.08 0.0384 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611376 NA NA 0.032573 0.067867 ID=COSM148142;OCCURENCE=1(stomach) 0.072 NA 6.2384603 1028 4 48588742 48588742 C T exonic FRYL NA synonymous SNV FRYL:NM_015030:exon19:c.G1644A:p.G548G exonic ENSG00000075539 NA synonymous SNV ENSG00000075539:ENST00000506685:exon9:c.G762A:p.G254G,ENSG00000075539:ENST00000503238:exon16:c.G1644A:p.G548G,ENSG00000075539:ENST00000358350:exon19:c.G1644A:p.G548G,ENSG00000075539:ENST00000507711:exon19:c.G1644A:p.G548G,ENSG00000075539:ENST00000537810:exon19:c.G1644A:p.G548G Score=563;Name=lod=258 NA 4p11 Score=986;Name=V$MZF1_01 NA NA NA rs34558821 0.47 0.47 0.46 0.532548 0.4553 0.5288 0.353 0.6218 0.6227 0.45 0.49 0.31 0.6 0.4876 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899005 NA NA 0.48589 0.623623 NA 0.551 NA 6.2378766 1028 2 207527840 207527840 G T exonic DYTN NA nonsynonymous SNV DYTN:NM_001093730:exon11:c.C1420A:p.Q474K exonic ENSG00000232125 NA nonsynonymous SNV ENSG00000232125:ENST00000452335:exon11:c.C1420A:p.Q474K NA NA 2q33.3 NA NA NA NA rs2115591 0.39 0.39 0.366 0.394968 0.3738 0.1716 0.4942 0.643 0.2413 0.37 0.19 0.45 0.62 0.3638 0.62 1 T 0.0 B 0.0 B . . 1.000 P -0.695 N 2.68 T -0.956 T 0.000 T 0.042 -1.413 0.022 0.26 -0.055 0.883 4.867 -1.412533 NA 1 0.357895 0.578431 NA 0.406 NA 6.2378384 1028 9 118032 118032 G A exonic FOXD4 NA synonymous SNV FOXD4:NM_207305:exon1:c.C88T:p.L30L exonic ENSG00000170122 NA synonymous SNV ENSG00000170122:ENST00000382500:exon1:c.C88T:p.L30L Score=389;Name=lod=51 NA 9p24.3 NA NA NA NA rs9406416 0.18 0.18 0.11 0.183506 0.2266 0.0476 0.2406 0.239 0.1636 0.23 0.05 0.26 0.21 0.2023 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50568 NA NA NA NA NA 0.007 NA 6.2377666 1028 12 52695754 52695754 C T exonic KRT86 NA synonymous SNV KRT86:NM_002284:exon1:c.C54T:p.C18C exonic ENSG00000170442 NA synonymous SNV ENSG00000170442:ENST00000293525:exon1:c.C54T:p.C18C,ENSG00000170442:ENST00000544024:exon2:c.C54T:p.C18C,ENSG00000170442:ENST00000553310:exon2:c.C54T:p.C18C,ENSG00000170442:ENST00000423955:exon3:c.C54T:p.C18C Score=385;Name=lod=49 NA 12q13.13 NA NA NA NA rs74651927 0.12 0.12 0.106 0.154553 0.1282 0.0883 0.1326 0.171 0.2434 0.11 0.08 0.13 0.17 0.154 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45624 NA NA 0.146859 0.164958 NA 0.159 NA 6.2376076 1028 4 41992677 41992677 C G exonic SLC30A9 NA synonymous SNV SLC30A9:NM_006345:exon1:c.C9G:p.P3P exonic ENSG00000014824 NA synonymous SNV ENSG00000014824:ENST00000264451:exon1:c.C9G:p.P3P,ENSG00000014824:ENST00000513699:exon1:c.C9G:p.P3P Score=473;Name=lod=112 NA 4p13 NA Name=ETS1,TAF1,Pol2(b),HMGN3,ELK4,YY1,Pol2(phosphoS2),Pol2,Pol2-4H8,TR4,ZNF263,TAF7_(SQ-8),Sin3Ak-20,YY1_(C-20),NFKB,HEY1,AP-2gamma,ELF1_(SC-631),CCNT2,CTCF,TBP Name=148 NA rs2581434 0.73 0.73 0.683 0.706869 0.8151 0.9593 0.8401 0.2458 0.864 0.83 0.96 0.83 0.25 0.798 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01916 NA NA 0.816667 0.3328 NA 0.674 NA 6.2368996 1028 12 52695787 52695787 C T exonic KRT86 NA synonymous SNV KRT86:NM_002284:exon1:c.C87T:p.A29A exonic ENSG00000170442 NA synonymous SNV ENSG00000170442:ENST00000293525:exon1:c.C87T:p.A29A,ENSG00000170442:ENST00000544024:exon2:c.C87T:p.A29A,ENSG00000170442:ENST00000553310:exon2:c.C87T:p.A29A,ENSG00000170442:ENST00000423955:exon3:c.C87T:p.A29A Score=460;Name=lod=99 NA 12q13.13 NA NA NA NA rs112261068 0.12 0.12 0.095 0.155351 0.1282 0.0903 0.1354 0.1717 0.2423 0.11 0.08 0.13 0.17 0.1556 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088278 NA NA 0.146181 0.165222 NA 0.159 NA 6.2366856 1028 1 18808711 18808711 G C exonic KLHDC7A NA synonymous SNV KLHDC7A:NM_152375:exon1:c.G1236C:p.G412G exonic ENSG00000179023 NA synonymous SNV ENSG00000179023:ENST00000400664:exon1:c.G1236C:p.G412G Score=363;Name=lod=40 NA 1p36.13 NA NA NA NA rs2992751 0.28 0.28 0.23 0.263778 0.1173 0.625 0.2349 0.1725 0.1861 0.11 0.62 0.24 0.18 0.1906 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.99317 NA NA 0.122209 0.191784 NA 0.159 NA 6.2365576 1028 4 2194953 2194953 G A exonic POLN NA synonymous SNV POLN:NM_181808:exon5:c.C999T:p.G333G exonic ENSG00000130997 NA synonymous SNV ENSG00000130997:ENST00000382865:exon5:c.C999T:p.G333G,ENSG00000130997:ENST00000511885:exon7:c.C999T:p.G333G Score=243;Name=lod=13 NA 4p16.3 NA NA NA NA rs10002583 0.32 0.32 0.315 0.330671 0.1243 0.372 0.2464 0.6029 0.1922 0.13 0.37 0.25 0.61 0.1905 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313236 NA NA 0.115465 0.535649 NA 0.384 NA 6.2364016 1028 21 38568308 38568308 C T exonic TTC3 NA synonymous SNV TTC3:NM_001001894:exon42:c.C5550T:p.H1850H,TTC3:NM_003316:exon42:c.C5550T:p.H1850H exonic ENSG00000182670 NA synonymous SNV ENSG00000182670:ENST00000354749:exon41:c.C5550T:p.H1850H,ENSG00000182670:ENST00000355666:exon42:c.C5550T:p.H1850H,ENSG00000182670:ENST00000399017:exon42:c.C5550T:p.H1850H Score=243;Name=lod=13 NA 21q22.13 NA NA NA NA rs6579 0.57 0.57 0.544 0.592053 0.4642 0.6032 0.6282 0.6445 0.6155 0.46 0.62 0.6 0.64 0.519 0.64 . . . . . . . . 0.000 P . . . . -0.943 T 0.000 T . 0.906 8.684 1.26 0.337 0.114 5.853 0.905837 NA NA 0.447093 0.628292 NA 0.659 NA 6.2363736 1028 1 120057246 120057246 C A exonic HSD3B1 NA nonsynonymous SNV HSD3B1:NM_000862:exon4:c.C1100A:p.T367N exonic ENSG00000203857 NA nonsynonymous SNV ENSG00000203857:ENST00000528909:exon3:c.C1100A:p.T367N,ENSG00000203857:ENST00000235547:exon4:c.C1106A:p.T369N,ENSG00000203857:ENST00000369413:exon4:c.C1100A:p.T367N NA NA 1p12 NA NA NA NA rs1047303 0.8 0.8 0.8 0.833466 0.66 0.9177 0.7954 0.9145 0.8425 0.67 0.91 0.76 0.92 0.7554 0.92 0.37 T 0.021 B 0.025 B 0.233 N 1.000 P 2.44 M -0.58 T -1.061 T 0.151 T 0.029 -1.632 0.013 -0.043 0.216 -0.086 4.839 -1.631737 NA 0.3 0.681712 0.88079 NA 0.739 NA 6.2362214 1028 12 57535266 57535266 C T exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon3:c.C300T:p.D100D exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon3:c.C300T:p.D100D,ENSG00000123384:ENST00000338962:exon3:c.C300T:p.D100D,ENSG00000123384:ENST00000553277:exon3:c.C300T:p.D100D,ENSG00000123384:ENST00000554174:exon3:c.C300T:p.D100D Score=441;Name=lod=83 NA 12q13.3 NA NA NA NA rs1799986 0.1 0.1 0.101 0.0934505 0.1511 0.0694 0.072 0.0522 0.1299 0.17 0.07 0.08 0.06 0.1264 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758626 NA NA 0.153372 0.057422 NA 0.101 NA 6.2357946 1028 12 41966306 41966306 G A exonic PDZRN4 NA synonymous SNV PDZRN4:NM_013377:exon8:c.G951A:p.E317E,PDZRN4:NM_001164595:exon10:c.G1725A:p.E575E exonic ENSG00000165966 NA synonymous SNV ENSG00000165966:ENST00000539469:exon8:c.G951A:p.E317E,ENSG00000165966:ENST00000298919:exon10:c.G945A:p.E315E,ENSG00000165966:ENST00000402685:exon10:c.G1725A:p.E575E Score=336;Name=lod=31 NA 12q12 NA NA NA NA rs12298745 0.14 0.14 0.138 0.178115 0.1372 0.1855 0.1268 0.1415 0.2986 0.14 0.18 0.1 0.1 0.1587 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317271 NA NA 0.135 0.136632 NA 0.145 NA 6.2357666 1028 21 38512956 38512956 A G exonic TTC3 NA synonymous SNV TTC3:NM_001001894:exon20:c.A1755G:p.V585V,TTC3:NM_003316:exon20:c.A1755G:p.V585V exonic ENSG00000182670 NA synonymous SNV ENSG00000182670:ENST00000540756:exon11:c.A825G:p.V275V,ENSG00000182670:ENST00000354749:exon19:c.A1755G:p.V585V,ENSG00000182670:ENST00000438055:exon19:c.A1701G:p.V567V,ENSG00000182670:ENST00000355666:exon20:c.A1755G:p.V585V,ENSG00000182670:ENST00000399017:exon20:c.A1755G:p.V585V,ENSG00000182670:ENST00000418766:exon20:c.A1755G:p.V585V,ENSG00000182670:ENST00000450533:exon20:c.A1755G:p.V585V Score=590;Name=lod=332 NA 21q22.13 NA NA Name=4 NA rs1133001 0.57 0.57 0.527 0.591853 0.4642 0.6032 0.6282 0.6445 0.6145 0.46 0.62 0.6 0.64 0.5193 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.261323 1.261323 NA 0.447442 0.62778 NA 0.667 NA 6.2357246 1028 22 43036245 43036245 G A exonic ATP5L2 NA synonymous SNV ATP5L2:NM_001165877:exon1:c.C36T:p.T12T exonic ENSG00000249222 NA synonymous SNV ENSG00000249222:ENST00000505920:exon1:c.C36T:p.T12T NA NA 22q13.2 NA NA Name=18 NA rs6519327 0.26 0.26 0.262 0.272764 0.1123 0.5982 0.1297 0.2375 0.2515 0.11 0.55 0.12 0.25 0.2138 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27242 NA NA 0.10528 0.213873 NA 0.029 NA 6.2352866 1028 9 130206762 130206762 C T exonic ZNF79 NA synonymous SNV ZNF79:NM_007135:exon5:c.C783T:p.N261N exonic ENSG00000196152 NA synonymous SNV ENSG00000196152:ENST00000342483:exon5:c.C783T:p.N261N,ENSG00000196152:ENST00000543471:exon6:c.C711T:p.N237N NA NA 9q33.3 NA Name=Pol2 Name=95 NA rs2248025 0.36 0.36 0.358 0.332069 0.5318 0.1647 0.2853 0.3215 0.3466 0.54 0.13 0.33 0.36 0.416 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147756 NA NA 0.483837 0.34975 ID=COSM150719;OCCURENCE=1(stomach) 0.268 NA 6.2350296 1029 12 32854366 32854366 A C exonic DNM1L NA synonymous SNV DNM1L:NM_005690:exon2:c.A120C:p.S40S,DNM1L:NM_012062:exon2:c.A120C:p.S40S,DNM1L:NM_012063:exon2:c.A120C:p.S40S exonic ENSG00000087470 NA synonymous SNV ENSG00000087470:ENST00000546757:exon1:c.A18C:p.S6S,ENSG00000087470:ENST00000266481:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000358214:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000381000:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000413295:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000434676:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000452533:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000546649:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000547312:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000548750:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000549701:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000550154:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000551476:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000551643:exon2:c.A120C:p.S40S,ENSG00000087470:ENST00000553257:exon2:c.A120C:p.S40S Score=611;Name=lod=406 NA 12p11.21 NA NA NA NA rs10844308 0.13 0.13 0.12 0.126597 0.161 0.0813 0.0937 0.177 0.093 0.16 0.07 0.09 0.17 0.1256 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.349032 1.349032 NA 0.145116 0.16364 NA 0.08 NA 6.2349506 1029 5 149754991 149754991 C T exonic TCOF1 NA synonymous SNV TCOF1:NM_000356:exon10:c.C1347T:p.P449P,TCOF1:NM_001135245:exon10:c.C1347T:p.P449P,TCOF1:NM_001008657:exon11:c.C1578T:p.P526P,TCOF1:NM_001135243:exon11:c.C1578T:p.P526P,TCOF1:NM_001135244:exon11:c.C1578T:p.P526P,TCOF1:NM_001195141:exon11:c.C1578T:p.P526P exonic ENSG00000070814 NA synonymous SNV ENSG00000070814:ENST00000323668:exon10:c.C1347T:p.P449P,ENSG00000070814:ENST00000445265:exon10:c.C1347T:p.P449P,ENSG00000070814:ENST00000377797:exon11:c.C1578T:p.P526P,ENSG00000070814:ENST00000394269:exon11:c.C1578T:p.P526P,ENSG00000070814:ENST00000427724:exon11:c.C1578T:p.P526P,ENSG00000070814:ENST00000439160:exon11:c.C1578T:p.P526P,ENSG00000070814:ENST00000451292:exon11:c.C1578T:p.P526P,ENSG00000070814:ENST00000504761:exon11:c.C1578T:p.P526P,ENSG00000070814:ENST00000513346:exon11:c.C1578T:p.P526P NA NA 5q32 NA NA NA NA rs2071238 0.14 0.14 0.133 0.158746 0.1292 0.1448 0.0922 0.2383 0.1431 0.12 0.1 0.11 0.25 0.1455 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158432 NA NA 0.157093 0.23468 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118603.2;CLNDSDB=.;CLNDSDBID=. 6.2348736 1029 3 169988286 169988286 C T exonic PRKCI NA synonymous SNV PRKCI:NM_002740:exon6:c.C528T:p.L176L exonic ENSG00000163558 NA synonymous SNV ENSG00000163558:ENST00000295797:exon6:c.C528T:p.L176L Score=670;Name=lod=706 NA 3q26.2 NA NA NA NA rs56257047 0.1 0.1 0.088 0.0754792 0.1541 0.0645 0.1225 0.0204 0.047 0.16 0.06 0.15 0.03 0.127 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76149 NA NA 0.151047 0.039946 NA 0.051 NA 6.2345196 1029 8 2965244 2965244 T C exonic CSMD1 NA synonymous SNV CSMD1:NM_033225:exon45:c.A6831G:p.E2277E exonic ENSG00000183117 NA synonymous SNV ENSG00000183117:ENST00000537824:exon45:c.A6831G:p.E2277E,ENSG00000183117:ENST00000542608:exon45:c.A6831G:p.E2277E,ENSG00000183117:ENST00000400186:exon46:c.A6834G:p.E2278E,ENSG00000183117:ENST00000520002:exon46:c.A6834G:p.E2278E,ENSG00000183117:ENST00000602557:exon46:c.A6834G:p.E2278E,ENSG00000183117:ENST00000602723:exon46:c.A6834G:p.E2278E Score=480;Name=lod=119 NA 8p23.2 NA NA Name=9 NA rs3824271 0.83 0.83 0.817 0.839657 0.7952 0.9464 0.8545 0.7352 0.9059 0.77 0.96 0.86 0.73 0.8314 0.96 . . . . . . . . 0.000 P . . . . -1.010 T 0.000 T . -0.264 2.733 -1.26 -0.216 0.183 9.806 -0.263931 NA NA 0.805623 0.75 NA 0.891 NA 6.2344436 1029 16 27692835 27692835 G A exonic KIAA0556 NA synonymous SNV KIAA0556:NM_015202:exon8:c.G924A:p.Q308Q exonic ENSG00000047578 NA synonymous SNV ENSG00000047578:ENST00000261588:exon8:c.G924A:p.Q308Q Score=317;Name=lod=26 NA 16p12.1 NA NA NA NA rs12923861 0.12 0.12 0.106 0.10603 0.1541 0.001 0.1902 0.1528 0.0419 0.16 NA 0.17 0.14 0.1294 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365518 NA NA 0.148953 0.14975 NA 0.072 NA 6.2342136 1029 6 70866609 70866609 C T exonic COL19A1 NA synonymous SNV COL19A1:NM_001858:exon34:c.C2286T:p.G762G exonic ENSG00000082293 NA synonymous SNV ENSG00000082293:ENST00000393344:exon21:c.C1152T:p.G384G,ENSG00000082293:ENST00000322773:exon34:c.C2286T:p.G762G Score=450;Name=lod=90 NA 6q13 Score=820;Name=V$CEBP_C NA NA NA rs2229799 0.48 0.48 0.486 0.514776 0.4742 0.3145 0.5101 0.6914 0.5276 0.46 0.33 0.49 0.67 0.4883 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52056 NA NA 0.47 0.660917 NA 0.536 NA 6.2341666 1029 1 179426268 179426268 A G intronic AXDND1 NA NA NA ncRNA_exonic ENSG00000236539 NA NA NA Score=699;Name=lod=927 NA 1q25.2 NA Name=YY1_(C-20) NA NA rs73036735 0.1 0.1 0.104 0.0942492 0.0994 0.1032 0.062 0.1536 0.0225 0.1 0.08 0.07 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346393 NA NA NA NA NA 0.123 NA 6.2339333 1029 19 52468587 52468587 G T exonic ZNF350 NA synonymous SNV ZNF350:NM_021632:exon5:c.C1119A:p.P373P exonic ENSG00000256683 NA synonymous SNV ENSG00000256683:ENST00000243644:exon5:c.C1119A:p.P373P Score=428;Name=lod=73 NA 19q13.41 NA NA NA NA rs3764538 0.16 0.16 0.159 0.175719 0.1471 0.2331 0.1297 0.1029 0.2771 0.16 0.2 0.11 0.12 0.1584 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3657 NA NA 0.127442 0.142987 NA 0.116 NA 6.2337246 1029 18 28913599 28913599 C T exonic DSG1 NA synonymous SNV DSG1:NM_001942:exon7:c.C732T:p.G244G exonic ENSG00000134760 NA synonymous SNV ENSG00000134760:ENST00000257192:exon7:c.C732T:p.G244G Score=352;Name=lod=36 NA 18q12.1 Score=726;Name=V$NRSF_01 NA NA NA rs12967407 0.32 0.32 0.313 0.327676 0.501 0.0665 0.2882 0.292 0.4949 0.51 0.06 0.34 0.29 0.4343 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312856 NA NA 0.497791 0.316841 NA 0.377 NA 6.2335756 1029 16 2260612 2260612 T C exonic BRICD5 NA nonsynonymous SNV BRICD5:NM_182563:exon2:c.A91G:p.S31G exonic ENSG00000182685 NA nonsynonymous SNV ENSG00000182685:ENST00000328540:exon2:c.A91G:p.S31G,ENSG00000182685:ENST00000562360:exon2:c.A91G:p.S31G,ENSG00000182685:ENST00000566018:exon2:c.A91G:p.S31G NA NA 16p13.3 NA NA NA NA rs26856 0.67 0.67 0.66 0.632788 0.6998 0.6042 0.6671 0.6157 0.592 0.72 0.64 0.67 0.64 0.6901 0.72 1 T 0.0 B 0.0 B 0.005 N 1.000 P -0.75 N 1.97 T -0.959 T 0.000 T 0.068 -1.71 0.011 2.61 0.338 0.270 4.926 -1.709638 NA 1 0.710312 0.642629 NA 0.399 NA 6.2331214 1029 2 170099473 170099473 T C exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon24:c.A3660G:p.A1220A exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000443831:exon22:c.A3249G:p.A1083A,ENSG00000081479:ENST00000263816:exon24:c.A3660G:p.A1220A NA NA 2q31.1 Score=836;Name=V$CEBP_C NA NA NA rs831042 0.51 0.51 0.462 0.581869 0.4612 0.4772 0.6153 0.6082 0.7546 0.46 0.46 0.61 0.57 0.5231 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088341 NA NA 0.449302 0.608488 NA 0.609 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117527.2;CLNDSDB=.;CLNDSDBID=. 6.2330646 1029 21 32493031 32493031 A G exonic TIAM1 NA synonymous SNV TIAM1:NM_003253:exon29:c.T4431C:p.G1477G exonic ENSG00000156299 NA synonymous SNV ENSG00000156299:ENST00000541036:exon24:c.T4251C:p.G1417G,ENSG00000156299:ENST00000286827:exon29:c.T4431C:p.G1477G Score=566;Name=lod=265 NA 21q22.11 Score=990;Name=V$MZF1_01 NA NA NA rs762194 0.58 0.58 0.561 0.535343 0.4712 0.7639 0.598 0.531 0.3272 0.47 0.75 0.59 0.54 0.5033 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141979 NA NA 0.459302 0.519292 NA 0.536 NA 6.2328646 1029 5 149755421 149755421 A G exonic TCOF1 NA synonymous SNV TCOF1:NM_000356:exon11:c.A1611G:p.S537S,TCOF1:NM_001135245:exon11:c.A1611G:p.S537S,TCOF1:NM_001008657:exon12:c.A1842G:p.S614S,TCOF1:NM_001135243:exon12:c.A1842G:p.S614S,TCOF1:NM_001135244:exon12:c.A1842G:p.S614S,TCOF1:NM_001195141:exon12:c.A1842G:p.S614S exonic ENSG00000070814 NA synonymous SNV ENSG00000070814:ENST00000323668:exon11:c.A1611G:p.S537S,ENSG00000070814:ENST00000445265:exon11:c.A1611G:p.S537S,ENSG00000070814:ENST00000377797:exon12:c.A1842G:p.S614S,ENSG00000070814:ENST00000394269:exon12:c.A1842G:p.S614S,ENSG00000070814:ENST00000427724:exon12:c.A1842G:p.S614S,ENSG00000070814:ENST00000439160:exon12:c.A1842G:p.S614S,ENSG00000070814:ENST00000451292:exon12:c.A1842G:p.S614S,ENSG00000070814:ENST00000504761:exon12:c.A1842G:p.S614S,ENSG00000070814:ENST00000513346:exon12:c.A1842G:p.S614S NA NA 5q32 NA NA NA NA rs2071239 0.15 0.15 0.139 0.16254 0.1292 0.1448 0.0937 0.2511 0.1442 0.12 0.1 0.11 0.26 0.1464 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545719 NA NA 0.158721 0.253291 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118606.2;CLNDSDB=.;CLNDSDBID=. 6.2323456 1029 10 55955485 55955485 A G exonic PCDH15 NA synonymous SNV PCDH15:NM_001142767:exon10:c.T1152C:p.T384T,PCDH15:NM_001142768:exon10:c.T1197C:p.T399T,PCDH15:NM_001142773:exon10:c.T1197C:p.T399T,PCDH15:NM_001142764:exon11:c.T1263C:p.T421T,PCDH15:NM_001142765:exon11:c.T1263C:p.T421T,PCDH15:NM_001142766:exon11:c.T1263C:p.T421T,PCDH15:NM_033056:exon11:c.T1263C:p.T421T,PCDH15:NM_001142763:exon12:c.T1278C:p.T426T exonic ENSG00000150275 NA synonymous SNV ENSG00000150275:ENST00000409834:exon3:c.T75C:p.T25T,ENSG00000150275:ENST00000395432:exon10:c.T1152C:p.T384T,ENSG00000150275:ENST00000395433:exon10:c.T1197C:p.T399T,ENSG00000150275:ENST00000320301:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000361849:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000373955:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000373965:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000395430:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000395438:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000395440:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000395445:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000395446:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000437009:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000448885:exon11:c.T1263C:p.T421T,ENSG00000150275:ENST00000373957:exon13:c.T1197C:p.T399T,ENSG00000150275:ENST00000414778:exon13:c.T1278C:p.T426T NA NA 10q21.1 NA NA NA NA rs7921598 0.22 0.22 0.236 0.25599 0.1382 0.0863 0.2118 0.5348 0.2065 0.13 0.09 0.19 0.53 0.1689 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843948 NA NA 0.12814 0.478438 NA 0.21 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000039698.1|RCV000086941.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.2314266 1029 22 42537196 42537196 T C ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA nonsynonymous SNV ENSG00000205702:ENST00000435101:exon3:c.A101G:p.H34R NA NA 22q13.2 NA NA NA NA rs2982054 0.69 0.69 0.572 0.723442 0.672 0.8492 0.6974 0.7443 0.637 0.63 0.8 0.66 0.66 0.5977 0.8 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . -1.14 T -0.932 T 0.000 T . -2.657 0 2.86 0.418 0.172 6.411 -2.657181 NA 1 NA NA NA 0.717 NA 6.2303 1029 1 16918502 16918502 A G exonic NBPF1 NA unknown UNKNOWN exonic ENSG00000219481 NA synonymous SNV ENSG00000219481:ENST00000392963:exon4:c.T15C:p.A5A,ENSG00000219481:ENST00000430580:exon7:c.T15C:p.A5A NA NA 1p36.13 NA Name=SMC3_(ab9263),CTCF,CTCF_(SC-5916),CTCF_(C-20),Rad21 Name=137 NA rs3925698 NA NA 0.467 0.493011 0.6024 0.6101 0.536 0.2579 0.547 NA NA NA NA 0.5013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353923 NA NA NA NA NA NA NA 6.2296333 1029 2 137814477 137814477 C G exonic THSD7B NA unknown UNKNOWN exonic ENSG00000144229 NA synonymous SNV ENSG00000144229:ENST00000543459:exon1:c.C204G:p.P68P,ENSG00000144229:ENST00000272643:exon2:c.C627G:p.P209P,ENSG00000144229:ENST00000413152:exon2:c.C534G:p.P178P,ENSG00000144229:ENST00000409968:exon3:c.C627G:p.P209P Score=325;Name=lod=28 NA 2q22.1 NA Name=CTCF,Rad21 NA NA rs17727482 0.18 0.18 0.153 0.165935 0.3956 0.002 0.2594 0.0166 0.2342 0.38 0.0017 0.28 0.02 0.3082 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.326861 NA NA 0.400024 0.071907 NA 0.21 NA 6.2295093 1029 15 22939192 22939192 G A exonic CYFIP1 NA synonymous SNV CYFIP1:NM_014608:exon10:c.G918A:p.P306P exonic ENSG00000068793 NA synonymous SNV ENSG00000068793:ENST00000313077:exon10:c.G918A:p.P306P,ENSG00000068793:ENST00000560848:exon11:c.G918A:p.P306P NA NA 15q11.2 NA Name=c-Fos Name=42 NA rs11633474 0.37 0.37 0.371 0.330072 0.505 0.1141 0.4741 0.3457 0.2495 0.52 0.12 0.48 0.36 0.4371 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347173 NA NA 0.495116 0.350204 ID=COSM433627;OCCURENCE=1(breast) 0.319 NA 6.2294506 1029 22 24034288 24034288 A G exonic RGL4 NA nonsynonymous SNV RGL4:NM_153615:exon1:c.A71G:p.Q24R exonic ENSG00000159496 NA nonsynonymous SNV ENSG00000159496:ENST00000290691:exon1:c.A71G:p.Q24R,ENSG00000159496:ENST00000423392:exon1:c.A71G:p.Q24R,ENSG00000159496:ENST00000441897:exon3:c.A71G:p.Q24R NA NA 22q11.23 NA NA NA NA rs738786 0.55 0.55 0.522 0.55012 0.5328 0.6071 0.6167 0.4372 0.6145 0.55 0.61 0.56 0.46 0.5559 0.61 0.93 T 0.659 P 0.403 B 0.060 U 1.000 P 0.695 N 1.56 T -0.965 T 0.000 T 0.109 0.868 8.519 -0.665 -0.151 -0.294 2.363 0.868317 NA 0.01 0.515349 0.448025 NA 0.543 NA 6.2292844 1029 3 180319981 180319981 G T UTR5 TTC14 NM_133462:c.-69G>T,NM_001042601:c.-69G>T NA NA UTR5 ENSG00000163728 ENST00000296015:c.-69G>T,ENST00000491380:c.-69G>T,ENST00000412756:c.-69G>T NA NA NA NA 3q26.33 NA Name=CHD2_(N-1250),IRF1,CEBPB,RXRA,GTF2F1_(RAP-74),TBP,p300,Oct-2,SETDB1,SRF,PAX5-C20,HEY1,FOXA2_(SC-6554),NFKB,FOXA1_(SC-101058),AP-2gamma,ELF1_(SC-631),c-Myc,Max,TR4,Pol2-4H8,KAP1,GATA3_(SC-268),MEF2A,BCLAF1_(M33-P5B11),CtBP2,HA-E2F1,YY1_(C-20),Sin3Ak-20,Egr-1,Pol2(phosphoS2),Pol2,GABP,POU2F2,ELK4,FOXA1_(C-20),Pol2(b),GATA-1,TAF1 Name=146 NA rs1532485 0.08 0.08 0.079 0.0696885 0.1044 NA 0.1167 0.0787 0.0603 0.12 NA 0.1 0.08 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008714 NA NA NA NA NA 0.051 NA 6.2289334 1029 14 23944514 23944514 C A exonic NGDN NA synonymous SNV NGDN:NM_001042635:exon4:c.C279A:p.R93R,NGDN:NM_015514:exon4:c.C279A:p.R93R exonic ENSG00000129460 NA synonymous SNV ENSG00000129460:ENST00000555128:exon3:c.C204A:p.R68R,ENSG00000129460:ENST00000397154:exon4:c.C279A:p.R93R,ENSG00000129460:ENST00000408901:exon4:c.C279A:p.R93R Score=658;Name=lod=630 NA 14q11.2 NA NA NA NA rs2236261 0.69 0.69 0.688 0.678315 0.8479 0.6409 0.6873 0.5378 0.726 0.84 0.65 0.67 0.54 0.7646 0.84 . . . . . . . . 0.000 P . . . . -1.043 T 0.000 T . 1.056 9.311 3.13 0.948 0.337 9.080 1.055521 NA NA 0.825698 0.57172 NA 0.674 NA 6.2284686 1029 7 5036641 5036641 C T ncRNA_exonic RNF216P1 NA NA NA ncRNA_exonic ENSG00000196204 NA NA NA Score=551;Name=lod=231 NA 7p22.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs9639892 0.52 0.52 0.531 0.498203 0.4384 0.6448 0.4265 0.4622 0.5082 0.45 0.68 0.47 0.5 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.47644 NA NA NA NA NA 0.435 NA 6.2282666 1029 19 6670094 6670094 G A UTR5 TNFSF14 NM_172014:c.-14C>T,NM_003807:c.-14C>T NA NA UTR5 ENSG00000125735 ENST00000326176:c.-14C>T,ENST00000245912:c.-14C>T,ENST00000599359:c.-14C>T NA NA NA NA 19p13.3 NA Name=Pol2-4H8,TBP,TCF12,c-Myc,IRF4_(M-17),Pol2,USF2,TAF1,CEBPB,Max Name=15 NA rs8112236 0.04 0.04 0.049 0.0379393 0.0288 NA 0.0245 0.1029 0.0082 0.03 NA 0.03 0.12 0.0326 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980857 NA NA 0.043837 0.083749 NA 0.159 NA 6.2280964 1029 5 149200043 149200043 T C exonic PPARGC1B NA synonymous SNV PPARGC1B:NM_001172698:exon2:c.T126C:p.L42L,PPARGC1B:NM_001172699:exon2:c.T51C:p.L17L,PPARGC1B:NM_133263:exon2:c.T126C:p.L42L exonic ENSG00000155846 NA synonymous SNV ENSG00000155846:ENST00000309241:exon2:c.T126C:p.L42L,ENSG00000155846:ENST00000360453:exon2:c.T126C:p.L42L,ENSG00000155846:ENST00000394320:exon2:c.T126C:p.L42L,ENSG00000155846:ENST00000403750:exon2:c.T51C:p.L17L NA NA 5q32 Score=671;Name=V$P53_01 NA NA NA rs32588 0.17 0.17 0.18 0.202276 0.1372 0.0873 0.0937 0.3843 0.2188 0.13 0.08 0.1 0.38 0.1664 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051326 NA NA 0.135465 0.343622 ID=COSM149986;OCCURENCE=1(stomach) 0.196 NA 6.2276016 1029 18 67992279 67992279 G A exonic SOCS6 NA synonymous SNV SOCS6:NM_004232:exon2:c.G375A:p.T125T exonic ENSG00000170677 NA synonymous SNV ENSG00000170677:ENST00000397942:exon2:c.G375A:p.T125T,ENSG00000170677:ENST00000578377:exon2:c.G375A:p.T125T,ENSG00000170677:ENST00000582322:exon2:c.G375A:p.T125T NA NA 18q22.2 Score=878;Name=V$ATF6_01 NA NA NA rs2231562 0.12 0.12 0.134 0.0992412 0.163 0.0833 0.0922 0.0862 0.0726 0.16 0.07 0.1 0.12 0.1225 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.723585 NA NA 0.153712 0.076941 NA 0.145 NA 6.2274546 1029 2 86756381 86756381 T G exonic CHMP3,RNF103-CHMP3 NA synonymous SNV CHMP3:NM_001005753:exon2:c.A48C:p.A16A,CHMP3:NM_016079:exon3:c.A246C:p.A82A,RNF103-CHMP3:NM_001198954:exon5:c.A333C:p.A111A exonic ENSG00000115561,ENSG00000249884 NA synonymous SNV ENSG00000115561:ENST00000409225:exon2:c.A48C:p.A16A,ENSG00000115561:ENST00000263856:exon3:c.A246C:p.A82A,ENSG00000249884:ENST00000440757:exon4:c.A567C:p.A189A,ENSG00000115561:ENST00000439940:exon5:c.A333C:p.A111A,ENSG00000249884:ENST00000604011:exon5:c.A333C:p.A111A NA NA 2p11.2 Score=849;Name=V$OCT1_Q6 NA NA NA rs11548929 0.15 0.15 0.147 0.141973 0.1402 NA 0.0879 0.3684 0.0225 0.14 NA 0.09 0.38 0.1354 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332496 NA NA 0.16407 0.338402 NA 0.203 NA 6.2269966 1029 5 78373431 78373431 C T exonic BHMT2 NA synonymous SNV BHMT2:NM_001178005:exon2:c.C162T:p.D54D,BHMT2:NM_017614:exon2:c.C162T:p.D54D exonic ENSG00000132840 NA nonsynonymous SNV ENSG00000132840:ENST00000519743:exon3:c.C100T:p.R34C Score=426;Name=lod=72 NA 5q14.1 Score=896;Name=V$AREB6_01 NA NA NA rs682985 0.51 0.51 0.475 0.488219 0.5984 0.6042 0.6023 0.2398 0.5102 0.59 0.58 0.63 0.19 0.5679 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778713 NA NA 0.606977 0.29301 NA 0.42 NA 6.226723 1029 6 29894580 29894580 T G intergenic HCG4B,HLA-A dist=1152;dist=15667 NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA Score=309;Name=lod=24 NA 6p22.1 NA Name=Pol2-4H8,AP-2gamma,NFKB Name=99 NA rs2571425 0.82 0.82 0.827 0.858826 0.7734 0.9236 0.8588 0.8676 0.8681 0.75 0.87 0.81 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.068322 NA NA NA NA NA 0.428 NA 6.2266 1029 16 28507644 28507644 C G exonic APOBR NA nonsynonymous SNV APOBR:NM_018690:exon2:c.C1282G:p.P428A exonic ENSG00000184730 NA nonsynonymous SNV ENSG00000184730:ENST00000564831:exon2:c.C1282G:p.P428A,ENSG00000184730:ENST00000328423:exon3:c.C1255G:p.P419A,ENSG00000184730:ENST00000431282:exon3:c.C1255G:p.P419A NA NA 16p11.2 NA NA NA NA rs180743 0.28 0.28 0.273 0.301118 0.3479 0.1042 0.4308 0.4107 0.2157 0.34 0.11 0.35 0.35 0.3697 0.41 0.86 T . . . . . . 1.000 P . . 0.99 T -0.941 T 0.000 T 0.016 1.144 9.659 0.489 -0.054 -0.438 4.273 1.143564 NA NA 0.389649 0.409296 ID=COSM148062;OCCURENCE=1(stomach) 0.239 NA 6.2260844 1029 8 17218629 17218629 G A exonic MTMR7 NA synonymous SNV MTMR7:NM_004686:exon4:c.C465T:p.Y155Y exonic ENSG00000003987 NA synonymous SNV ENSG00000003987:ENST00000180173:exon4:c.C465T:p.Y155Y,ENSG00000003987:ENST00000521857:exon4:c.C465T:p.Y155Y Score=536;Name=lod=201 NA 8p22 NA NA NA NA rs1024355 0.21 0.21 0.199 0.195687 0.1541 0.0655 0.134 0.4864 0.0235 0.15 0.09 0.13 0.47 0.1404 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048176 NA NA 0.146628 0.368134 ID=COSM150459;OCCURENCE=1(stomach) 0.188 NA 6.2255386 1029 18 56203120 56203120 C T exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.G4299A:p.G1433G exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G4299A:p.G1433G NA NA 18q21.32 NA Name=TAF1,POU2F2,BCL11A,YY1_(C-20),ELF1_(SC-631),Oct-2,EBF1_(C-8),YY1,Pbx3,Pol2-4H8,PAX5-C20,TBP Name=5 NA rs3809981 0.38 0.38 0.352 0.329872 0.5308 0.2391 0.3847 0.2103 0.3395 0.54 0.24 0.45 0.23 0.4258 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071968 NA NA 0.485 0.259646 NA 0.457 NA 6.2250666 1029 9 215494 215494 C T UTR5 C9orf66 NM_152569:c.-98G>A NA NA UTR5 ENSG00000183784 ENST00000382387:c.-98G>A NA NA NA NA 9p24.3 NA Name=ZNF263 Name=8 NA rs7869327 0.18 0.18 0.164 0.199281 0.1083 0.2649 0.2334 0.1853 0.2198 0.11 0.22 0.2 0.22 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801394 NA NA NA NA NA 0.29 NA 6.2250334 1029 20 36770588 36770588 C T exonic TGM2 NA synonymous SNV TGM2:NM_004613:exon7:c.G873A:p.L291L,TGM2:NM_198951:exon7:c.G873A:p.L291L exonic ENSG00000198959 NA synonymous SNV ENSG00000198959:ENST00000536701:exon6:c.G630A:p.L210L,ENSG00000198959:ENST00000536724:exon6:c.G693A:p.L231L,ENSG00000198959:ENST00000361475:exon7:c.G873A:p.L291L NA NA 20q11.23 Score=671;Name=V$P53_01 NA NA NA rs2076390 0.2 0.2 0.193 0.202077 0.1392 0.2718 0.1196 0.2141 0.2372 0.15 0.31 0.12 0.2 0.162 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42901 NA NA 0.140465 0.18906 NA 0.21 NA 6.2250016 1030 9 125143792 125143792 C A exonic PTGS1 NA synonymous SNV PTGS1:NM_001271164:exon5:c.C495A:p.G165G,PTGS1:NM_001271165:exon5:c.C312A:p.G104G,PTGS1:NM_000962:exon6:c.C639A:p.G213G,PTGS1:NM_001271166:exon6:c.C312A:p.G104G,PTGS1:NM_001271367:exon6:c.C312A:p.G104G,PTGS1:NM_080591:exon6:c.C639A:p.G213G,PTGS1:NM_001271368:exon7:c.C564A:p.G188G exonic ENSG00000095303 NA synonymous SNV ENSG00000095303:ENST00000426608:exon4:c.C321A:p.G107G,ENSG00000095303:ENST00000373698:exon5:c.C312A:p.G104G,ENSG00000095303:ENST00000223423:exon6:c.C639A:p.G213G,ENSG00000095303:ENST00000362012:exon6:c.C639A:p.G213G,ENSG00000095303:ENST00000540753:exon7:c.C564A:p.G188G Score=545;Name=lod=218 NA 9q33.2 NA NA NA NA rs5788 0.24 0.24 0.267 0.270767 0.1402 0.0407 0.2406 0.6876 0.1002 0.13 0.05 0.23 0.65 0.1701 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066609 NA NA 0.131395 0.592828 ID=COSM150696;OCCURENCE=1(stomach) 0.312 NA 6.2249716 1030 9 104309445 104309445 T C exonic RNF20 NA synonymous SNV RNF20:NM_019592:exon8:c.T921C:p.Y307Y exonic ENSG00000155827 NA synonymous SNV ENSG00000155827:ENST00000389120:exon8:c.T921C:p.Y307Y Score=389;Name=lod=51 NA 9q31.1 NA NA NA NA rs2273976 0.13 0.13 0.113 0.110024 0.1461 0.1111 0.1513 0.0847 0.0767 0.15 0.12 0.16 0.08 0.1343 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825141 NA NA 0.161512 0.099183 NA 0.145 NA 6.2247546 1030 20 279483 279483 T C UTR3 ZCCHC3 NM_033089:c.*41T>C NA NA ncRNA_exonic ENSG00000247315 NA NA NA Score=481;Name=lod=120 NA 20p13 NA Name=Pol2-4H8,Pol2,Mxi1_(bHLH) Name=147 NA rs1046560 0.47 0.47 0.476 0.446685 0.4036 0.6617 0.3545 0.3873 0.4151 0.43 0.65 0.35 0.41 0.4457 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.371807 2.371807 NA 0.426002 0.3864 NA 0.406 NA 6.224698 1030 2 37230734 37230734 C T exonic HEATR5B NA synonymous SNV HEATR5B:NM_019024:exon31:c.G5001A:p.Q1667Q exonic ENSG00000008869 NA synonymous SNV ENSG00000008869:ENST00000233099:exon31:c.G5001A:p.Q1667Q,ENSG00000008869:ENST00000354531:exon31:c.G5001A:p.Q1667Q Score=595;Name=lod=348 NA 2p22.2 NA NA NA NA rs17497654 0.14 0.14 0.144 0.130192 0.1461 0.0238 0.1326 0.2345 0.0808 0.13 0.02 0.17 0.28 0.1331 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840902 NA NA 0.162907 0.209033 NA 0.174 NA 6.2245596 1030 19 7569282 7569282 A G exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon4:c.A767G:p.D256G exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon4:c.A767G:p.D256G NA NA 19p13.2 NA NA NA NA rs484870 0.38 0.38 0.382 0.348442 0.3837 0.1736 0.4006 0.4992 0.2515 0.39 0.19 0.43 0.52 0.3499 0.52 1 T 0.0 B 0.0 B 0.512 N 1.000 P -0.55 N 2.55 T -0.957 T 0.000 T 0.02 -1.348 0.029 -1.82 -0.612 0.063 4.487 -1.348313 NA 0.86 0.375349 0.472537 NA 0.442 NA 6.2243844 1030 7 66648199 66648199 G A exonic TYW1 NA synonymous SNV TYW1:NM_018264:exon14:c.G1785A:p.G595G exonic ENSG00000198874 NA synonymous SNV ENSG00000198874:ENST00000359626:exon14:c.G1785A:p.G595G NA NA 7q11.21 NA NA Name=15 NA rs7776775 0.21 0.21 0.142 NA NA NA NA NA NA 0.21 0.08 0.23 0.36 0.2354 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800189 NA NA 0.2078 0.282796 NA 0.014 NA 6.2234666 1030 11 67566898 67566898 C T ncRNA_intronic FAM86C2P NA NA NA ncRNA_exonic ENSG00000160172 NA NA NA Score=470;Name=lod=108 NA 11q13.2 Score=737;Name=V$NRSF_01 NA NA NA rs76473208 0.43 0.43 0.45 0.428315 0.4433 0.6319 0.5663 0.0787 0.5777 0.44 0.63 0.52 0.1 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253675 NA 0.03 NA NA NA 0.174 NA 6.2233666 1030 17 6981397 6981397 A G exonic CLEC10A NA nonsynonymous SNV CLEC10A:NM_006344:exon3:c.T103C:p.C35R,CLEC10A:NM_182906:exon3:c.T103C:p.C35R exonic ENSG00000132514 NA nonsynonymous SNV ENSG00000132514:ENST00000254868:exon3:c.T103C:p.C35R,ENSG00000132514:ENST00000416562:exon3:c.T103C:p.C35R,ENSG00000132514:ENST00000571664:exon3:c.T103C:p.C35R,ENSG00000132514:ENST00000576617:exon3:c.T103C:p.C35R NA NA 17p13.1 NA NA NA NA rs90951 0.51 0.51 0.542 0.519968 0.3608 0.4702 0.3473 0.9266 0.3078 0.36 0.49 0.33 0.9 0.3944 0.9 0.19 T 0.003 B 0.036 B 0.282 N 1.000 P 0.925 L 2.05 T -1.072 T 0.000 T 0.018 0.74 7.93 -0.382 -0.472 0.674 8.741 0.740365 NA 0.14 0.355 0.818883 NA 0.442 NA 6.2231334 1030 2 20101717 20101717 A G UTR5 TTC32 NM_001008237:c.-102T>C NA NA UTR5 ENSG00000183891 ENST00000402414:c.-102T>C,ENST00000333610:c.-102T>C NA NA NA NA 2p24.1 NA Name=EBF1_(C-8),p300,CHD2_(N-1250),IRF1,GTF2F1_(RAP-74),TBP,HEY1,NFKB,ELF1_(SC-631),STAT1,c-Myc,Max,Oct-2,SETDB1,PAX5-C20,PAX5-N19,Ini1,TCF4,NRSF,Pol2,IRF4_(M-17),eGFP-JunD,GATA-2,Pol2-4H8,KAP1,HA-E2F1,YY1_(C-20),BRCA1_(C-1863),Sin3Ak-20,AP-2alpha,ETS1,Pol2(b),TAF1,GATA-1,FOSL2,ZBTB33,POU2F2,E2F4 Name=148 NA rs2304588 0.11 0.11 0.093 0.124201 0.1113 0.1746 0.1225 0.0197 0.228 0.11 0.17 0.12 0.03 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.634282 NA NA NA NA ID=COSN166029;OCCURENCE=1(breast) 0.087 NA 6.2220334 1030 13 32360583 32360583 A G exonic RXFP2 NA synonymous SNV RXFP2:NM_001166058:exon11:c.A921G:p.L307L,RXFP2:NM_130806:exon12:c.A993G:p.L331L exonic ENSG00000133105 NA synonymous SNV ENSG00000133105:ENST00000380314:exon11:c.A921G:p.L307L,ENSG00000133105:ENST00000298386:exon12:c.A993G:p.L331L Score=422;Name=lod=69 NA 13q13.1 NA NA NA NA rs9549106 0.15 0.15 0.115 0.135383 0.1551 0.1905 0.1657 0.0855 0.1043 0.15 0.19 0.15 0.1 0.147 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.668398 NA NA 0.142674 0.126192 NA 0.13 NA 6.2218926 1030 15 100636586 100636586 G A exonic ADAMTS17 NA synonymous SNV ADAMTS17:NM_139057:exon15:c.C2112T:p.G704G exonic ENSG00000140470 NA synonymous SNV ENSG00000140470:ENST00000268070:exon15:c.C2112T:p.G704G Score=569;Name=lod=275 NA 15q26.3 NA NA NA NA rs4965583 0.28 0.28 0.251 0.263778 0.1262 0.5 0.2925 0.2504 0.1595 0.13 0.53 0.25 0.24 0.1877 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.979603 NA NA 0.131047 0.233318 NA 0.196 NA 6.2217196 1030 2 185802363 185802363 A G exonic ZNF804A NA nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A2240G:p.H747R exonic ENSG00000170396 NA nonsynonymous SNV ENSG00000170396:ENST00000302277:exon4:c.A2240G:p.H747R NA NA 2q32.1 NA NA NA NA rs12477430 0.74 0.74 0.741 0.704273 0.6889 0.8671 0.7507 0.6157 0.6391 0.71 0.89 0.74 0.63 0.7139 0.89 0.4 T 0.0 B 0.0 B 0.994 N 1.000 P -0.69 N 3.47 T -1.048 T 0.000 T 0.004 -0.596 1.335 2.05 -0.093 0.078 9.824 -0.595664 NA 0.27 0.709002 0.637086 NA 0.768 NA 6.2215314 1030 3 53905308 53905308 T C exonic ACTR8 NA synonymous SNV ACTR8:NM_022899:exon11:c.A1518G:p.G506G exonic ENSG00000113812 NA synonymous SNV ENSG00000113812:ENST00000231909:exon6:c.A633G:p.G211G,ENSG00000113812:ENST00000335754:exon11:c.A1518G:p.G506G,ENSG00000113812:ENST00000482349:exon11:c.A1185G:p.G395G NA NA 3p21.1 NA NA NA NA rs1046677 0.67 0.67 0.657 0.692292 0.4523 0.9444 0.6196 0.7186 0.6953 0.43 0.95 0.62 0.74 0.5546 0.95 . . . . . . . . 0.000 P . . . . -1.029 T 0.000 T . 1.138 9.636 -2.54 -0.796 -0.016 7.843 1.137708 NA NA 0.438488 0.67567 NA 0.674 NA 6.2212786 1030 10 87898729 87898729 G A exonic GRID1 NA synonymous SNV GRID1:NM_017551:exon4:c.C573T:p.D191D exonic ENSG00000182771 NA synonymous SNV ENSG00000182771:ENST00000327946:exon4:c.C573T:p.D191D,ENSG00000182771:ENST00000464741:exon4:c.C573T:p.D191D NA NA 10q23.1 Score=798;Name=V$FREAC4_01 NA NA NA rs17106320 0.15 0.15 0.155 0.180911 0.1531 0.0893 0.1715 0.2579 0.2065 0.14 0.07 0.2 0.24 0.1483 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680552 NA NA 0.145116 0.24966 NA 0.21 NA 6.2201506 1030 2 217148417 217148417 C A exonic MARCH4 NA synonymous SNV MARCH4:NM_020814:exon2:c.G552T:p.S184S exonic ENSG00000144583 NA synonymous SNV ENSG00000144583:ENST00000273067:exon2:c.G552T:p.S184S NA NA 2q35 NA Name=KAP1,YY1_(C-20),SMC3_(ab9263),NANOG_(SC-33759),CTCF_(SC-5916),CTCF,CTCF_(C-20),Rad21 Name=29 NA rs876771 0.43 0.43 0.415 0.435903 0.493 0.4345 0.4308 0.3147 0.546 0.49 0.44 0.42 0.32 0.4719 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099651 NA NA 0.48186 0.329778 NA 0.471 NA 6.2199066 1030 6 29855901 29855901 A G ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341,ENSG00000230521 NA NA NA Score=358;Name=lod=38 NA 6p22.1 NA Name=Pol2-4H8,Pol2,NFKB,CTCF Name=64 NA rs1059453 0.68 0.68 0.672 0.704473 0.7366 0.6062 0.7738 0.733 0.6851 0.71 0.54 0.7 0.79 0.7105 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523754 NA NA NA NA NA 0.486 NA 6.2195666 1030 10 86151141 86151141 C G intronic CCSER2 NA NA NA ncRNA_exonic ENSG00000225423 NA NA NA Score=728;Name=lod=1210 NA 10q23.1 NA NA Name=18 NA rs17342019 0.07 0.07 0.071 0.0820687 0.1143 0.0774 0.0634 0.003 0.1738 0.11 0.06 0.07 0.0041 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250224 NA NA NA NA NA 0.109 NA 6.2190333 1030 6 33172442 33172442 C T UTR5 HSD17B8 NM_014234:c.-4C>T NA NA UTR5 ENSG00000204228 ENST00000374662:c.-4C>T NA NA NA NA 6p21.32 NA Name=Egr-1,YY1,TCF4,Pol2(phosphoS2),SP1,RFX5_(N-494),Pol2,Pol2-4H8,c-Fos,Sin3Ak-20,YY1_(C-20),SP2_(SC-643),NF-YA,E2F6_(H-50),FOSL2,TAF1,HMGN3,E2F4,Nrf1,THAP1_(SC-98174),IRF1,TBP,HEY1,CCNT2,NF-YB Name=145 NA rs150495100 0.03 0.03 0.026 0.0301518 0.0368 0.0129 0.0288 0.0257 0.0481 0.03 0.02 0.04 0.03 0.0379 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04572 NA NA 0.040975 0.035833 NA 0.08 NA 6.2176584 1030 3 179051472 179051472 A G exonic ZNF639 NA synonymous SNV ZNF639:NM_016331:exon7:c.A720G:p.E240E exonic ENSG00000121864 NA synonymous SNV ENSG00000121864:ENST00000484866:exon5:c.A720G:p.E240E,ENSG00000121864:ENST00000466264:exon6:c.A720G:p.E240E,ENSG00000121864:ENST00000496856:exon6:c.A720G:p.E240E,ENSG00000121864:ENST00000326361:exon7:c.A720G:p.E240E Score=524;Name=lod=179 NA 3q26.33 NA NA NA NA rs35983049 0.1 0.1 0.104 0.0880591 0.165 0.0714 0.0879 0.0643 0.0583 0.16 0.08 0.09 0.07 0.1217 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.209055 NA NA 0.162558 0.080572 NA 0.072 NA 6.2174086 1030 5 132232315 132232315 G A exonic AFF4 NA synonymous SNV AFF4:NM_014423:exon11:c.C2007T:p.P669P exonic ENSG00000072364 NA synonymous SNV ENSG00000072364:ENST00000265343:exon11:c.C2007T:p.P669P,ENSG00000072364:ENST00000378595:exon11:c.C2007T:p.P669P Score=766;Name=lod=1724 NA 5q31.1 NA NA NA NA rs739863 0.1 0.1 0.088 0.105232 0.1451 0.1141 0.0937 0.0144 0.1861 0.15 0.12 0.11 0.02 0.1451 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400284 NA NA 0.159302 0.036541 NA 0.13 NA 6.2171646 1030 7 142498837 142498837 C T intergenic PRSS3P2,EPHB6 dist=16438;dist=53955 NA NA exonic ENSG00000211772 NA unknown UNKNOWN NA NA 7q34 Score=865;Name=V$USF_01 Name=E2F6_(H-50),USF-1,THAP1_(SC-98174) Name=7 NA rs1042957 NA NA 0.376 NA NA NA NA NA NA NA NA NA NA 0.4844 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.20932 NA NA 0.465797 0.208217 NA 0.13 NA 6.2164697 1030 13 52313195 52313195 C T exonic WDFY2 NA synonymous SNV WDFY2:NM_052950:exon7:c.C609T:p.T203T exonic ENSG00000139668 NA synonymous SNV ENSG00000139668:ENST00000298125:exon7:c.C609T:p.T203T NA NA 13q14.3 Score=919;Name=V$SREBP1_02 NA NA NA rs1885854 0.11 0.11 0.099 0.125399 0.1531 0.1706 0.0937 0.0045 0.2362 0.16 0.14 0.09 0.01 0.1404 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647075 NA NA 0.156977 0.032229 NA 0.08 NA 6.2161896 1030 1 230384970 230384970 G A exonic GALNT2 NA synonymous SNV GALNT2:NM_004481:exon9:c.G858A:p.T286T exonic ENSG00000143641 NA synonymous SNV ENSG00000143641:ENST00000541865:exon8:c.G588A:p.T196T,ENSG00000143641:ENST00000366672:exon9:c.G858A:p.T286T,ENSG00000143641:ENST00000543760:exon9:c.G744A:p.T248T NA NA 1q42.13 Score=859;Name=V$E4BP4_01 NA NA NA rs1923950 0.12 0.12 0.124 0.110024 0.1511 0.0942 0.0749 0.0961 0.1278 0.17 0.12 0.08 0.08 0.14 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012498 NA NA 0.159419 0.099183 NA 0.087 NA 6.2161476 1030 13 41515371 41515371 C T exonic ELF1 NA synonymous SNV ELF1:NM_001145353:exon7:c.G870A:p.S290S,ELF1:NM_172373:exon8:c.G942A:p.S314S exonic ENSG00000120690 NA synonymous SNV ENSG00000120690:ENST00000442101:exon7:c.G870A:p.S290S,ENSG00000120690:ENST00000239882:exon8:c.G942A:p.S314S NA NA 13q14.11 Score=974;Name=V$GATA6_01 NA NA NA rs7987185 0.14 0.14 0.135 0.132388 0.1362 0.0843 0.1282 0.2209 0.0613 0.13 0.09 0.17 0.2 0.1422 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.466388 NA NA 0.172791 0.220835 NA 0.159 NA 6.2154756 1030 12 3788260 3788260 G A exonic EFCAB4B NA synonymous SNV EFCAB4B:NM_001144958:exon6:c.C345T:p.H115H,EFCAB4B:NM_032680:exon6:c.C345T:p.H115H exonic ENSG00000130038 NA synonymous SNV ENSG00000130038:ENST00000252322:exon6:c.C345T:p.H115H,ENSG00000130038:ENST00000440314:exon6:c.C345T:p.H115H,ENSG00000130038:ENST00000444507:exon6:c.C345T:p.H115H Score=419;Name=lod=67 NA 12p13.32 NA NA NA NA rs242016 0.09 0.09 0.079 0.0716853 0.1531 0.004 0.111 0.0461 0.0644 0.16 NA 0.12 0.04 0.1271 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753106 NA NA 0.171047 0.060145 NA 0.087 NA 6.2154196 1030 11 118471423 118471423 T C exonic ARCN1 NA synonymous SNV ARCN1:NM_001142281:exon9:c.T1266C:p.I422I,ARCN1:NM_001655:exon10:c.T1530C:p.I510I exonic ENSG00000095139 NA synonymous SNV ENSG00000095139:ENST00000392859:exon9:c.T1266C:p.I422I,ENSG00000095139:ENST00000264028:exon10:c.T1530C:p.I510I,ENSG00000095139:ENST00000359415:exon11:c.T1653C:p.I551I Score=601;Name=lod=369 NA 11q23.3 NA NA NA NA rs11216925 0.24 0.24 0.222 0.280351 0.1372 0.5813 0.0821 0.2065 0.3579 0.14 0.53 0.09 0.19 0.1869 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082158 NA NA 0.127241 0.190455 NA 0.196 NA 6.2153256 1031 14 94466081 94466081 C G ncRNA_intronic LINC00521 NA NA NA ncRNA_intronic ENSG00000175699 NA NA NA NA NA 14q32.12 NA Name=CTCF,Rad21,SMC3_(ab9263),c-Myc,CTCF_(C-20),EBF,FOXA1_(C-20) Name=14 NA rs4905137 0.68 0.68 0.658 0.680711 0.4523 0.9782 0.6138 0.733 0.5859 0.47 0.98 0.61 0.72 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280398 NA NA NA NA NA 0.594 NA 6.2143666 1031 19 17885880 17885880 C T exonic FCHO1 NA synonymous SNV FCHO1:NM_001161359:exon12:c.C786T:p.P262P,FCHO1:NM_001161358:exon13:c.C936T:p.P312P,FCHO1:NM_001161357:exon14:c.C936T:p.P312P,FCHO1:NM_015122:exon14:c.C936T:p.P312P exonic ENSG00000130475 NA synonymous SNV ENSG00000130475:ENST00000597512:exon10:c.C957T:p.P319P,ENSG00000130475:ENST00000252771:exon12:c.C936T:p.P312P,ENSG00000130475:ENST00000389133:exon12:c.C936T:p.P312P,ENSG00000130475:ENST00000595033:exon12:c.C786T:p.P262P,ENSG00000130475:ENST00000596951:exon12:c.C936T:p.P312P,ENSG00000130475:ENST00000539407:exon13:c.C936T:p.P312P,ENSG00000130475:ENST00000600676:exon13:c.C936T:p.P312P,ENSG00000130475:ENST00000594202:exon14:c.C936T:p.P312P,ENSG00000130475:ENST00000596536:exon14:c.C936T:p.P312P NA NA 19p13.11 Score=861;Name=V$STAT5B_01 NA NA NA rs2287855 0.1 0.1 0.088 0.0944489 0.174 0.0337 0.1369 0.059 0.093 0.17 0.01 0.13 0.05 0.1336 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02181 NA NA 0.144767 0.077394 NA 0.188 NA 6.2142996 1031 5 162940999 162940999 A G exonic MAT2B NA synonymous SNV MAT2B:NM_013283:exon4:c.A525G:p.L175L,MAT2B:NM_182796:exon4:c.A492G:p.L164L exonic ENSG00000038274 NA synonymous SNV ENSG00000038274:ENST00000421814:exon3:c.A330G:p.L110L,ENSG00000038274:ENST00000280969:exon4:c.A492G:p.L164L,ENSG00000038274:ENST00000321757:exon4:c.A525G:p.L175L,ENSG00000038274:ENST00000518095:exon4:c.A525G:p.L175L Score=551;Name=lod=232 NA 5q34 NA NA NA NA rs11546512 0.09 0.09 0.089 0.081869 0.17 0.0129 0.0836 0.0371 0.1217 0.17 0.01 0.11 0.04 0.1314 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.695918 1.695918 NA 0.151512 0.054244 NA 0.08 NA 6.2137546 1031 11 5372881 5372881 G A exonic OR51B6 NA synonymous SNV OR51B6:NM_001004750:exon1:c.G144A:p.R48R exonic ENSG00000176239 NA synonymous SNV ENSG00000176239:ENST00000380219:exon1:c.G144A:p.R48R NA NA 11p15.4 Score=866;Name=V$BRN2_01 NA NA NA rs77135024 0.12 0.12 0.098 0.105631 0.1541 0.0754 0.1614 0.0303 0.1493 0.17 0.09 0.16 0.05 0.1466 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588012 NA NA 0.152316 0.054748 NA 0.167 NA 6.2136506 1031 10 72179746 72179746 C T exonic EIF4EBP2 NA synonymous SNV EIF4EBP2:NM_004096:exon2:c.C222T:p.H74H exonic ENSG00000148730 NA synonymous SNV ENSG00000148730:ENST00000373218:exon2:c.C222T:p.H74H Score=636;Name=lod=513 NA 10q22.1 Score=965;Name=V$MYOD_Q6 NA NA NA rs1043098 0.53 0.53 0.506 0.51278 0.4612 0.7272 0.4712 0.4266 0.4908 0.48 0.71 0.49 0.42 0.5027 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062956 NA NA 0.489884 0.421698 NA 0.5 NA 6.2128826 1031 1 152327469 152327469 C T exonic FLG2 NA synonymous SNV FLG2:NM_001014342:exon3:c.G2793A:p.Q931Q exonic ENSG00000143520 NA synonymous SNV ENSG00000143520:ENST00000388718:exon3:c.G2793A:p.Q931Q NA NA 1q21.3 Score=848;Name=V$HAND1E47_01 NA NA NA rs76514540 0.21 0.21 0.15 0.239617 0.1372 0.4534 0.3804 0.0159 0.3272 0.12 0.43 0.31 0.01 0.1833 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457342 NA NA 0.133488 0.028143 NA 0.087 NA 6.2126786 1031 16 16271409 16271409 G A exonic ABCC6 NA synonymous SNV ABCC6:NM_001171:exon19:c.C2490T:p.A830A exonic ENSG00000091262 NA synonymous SNV ENSG00000091262:ENST00000205557:exon19:c.C2490T:p.A830A Score=516;Name=lod=167 NA 16p13.11 NA NA NA NA rs9924755 0.16 0.16 0.178 0.151558 0.1581 0.0744 0.1657 0.2723 0.0511 0.16 0.08 0.16 0.25 0.1395 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182846 NA NA 0.156628 0.249886 NA 0.159 NA 6.2124386 1031 19 3155902 3155902 G A exonic GNA15 NA synonymous SNV GNA15:NM_002068:exon5:c.G696A:p.L232L exonic ENSG00000060558 NA synonymous SNV ENSG00000060558:ENST00000262958:exon5:c.G696A:p.L232L Score=612;Name=lod=410 NA 19p13.3 NA NA NA NA rs2074865 0.3 0.3 0.283 0.327276 0.1153 0.5377 0.3573 0.2572 0.4018 0.12 0.56 0.31 0.27 0.2319 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174981 NA NA 0.107209 0.267136 ID=COSM148454;OCCURENCE=1(stomach) 0.283 NA 6.2122576 1031 20 47630449 47630449 C T exonic ARFGEF2 NA synonymous SNV ARFGEF2:NM_006420:exon30:c.C4131T:p.I1377I exonic ENSG00000124198 NA synonymous SNV ENSG00000124198:ENST00000371917:exon30:c.C4131T:p.I1377I NA NA 20q13.13 NA NA NA NA rs2281582 0.21 0.21 0.186 0.208466 0.1282 0.3938 0.2767 0.0416 0.2771 0.14 0.42 0.23 0.06 0.1899 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103975 NA NA 0.13686 0.0665 ID=COSM149194;OCCURENCE=1(stomach) 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116403.2;CLNDSDB=.;CLNDSDBID=. 6.2117066 1031 16 84211465 84211465 T C UTR3 DNAAF1,TAF1C NM_178452:c.*18T>C;NM_001243159:c.*1082A>G,NM_001243158:c.*1082A>G,NM_005679:c.*1082A>G,NM_001243157:c.*1082A>G,NM_001243156:c.*1082A>G,NM_139353:c.*1082A>G,NM_001243160:c.*1082A>G NA NA UTR3 ENSG00000103168,ENSG00000154099 ENST00000341690:c.*1082A>G,ENST00000567759:c.*1082A>G,ENST00000541676:c.*1082A>G,ENST00000378541:c.*1082A>G;ENST00000378553:c.*18T>C,ENST00000569735:c.*18T>C NA NA NA NA 16q24.1 NA Name=c-Myc,c-Fos,Egr-1 Name=85 NA rs2288024 0.03 0.03 0.026 0.0257588 0.0447 0.0456 0.0288 0.003 0.0143 0.04 0.04 0.02 0.01 0.0329 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124348 NA NA 0.044651 0.007273 NA 0.022 NA 6.2110824 1031 6 7339371 7339371 C T intronic CAGE1 NA NA NA ncRNA_exonic ENSG00000220472 NA NA NA Score=797;Name=lod=2322 NA 6p24.3 NA Name=YY1_(C-20),TAF1,CTCF NA NA rs13216713 0.17 0.17 0.172 0.159545 0.1223 0.3046 0.232 0.0514 0.1431 0.1 0.34 0.21 0.06 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192119 NA NA NA NA NA 0.145 NA 6.2110333 1031 3 132401600 132401600 C T exonic NPHP3 NA synonymous SNV NPHP3:NM_153240:exon26:c.G3759A:p.L1253L exonic ENSG00000113971 NA synonymous SNV ENSG00000113971:ENST00000337331:exon26:c.G3759A:p.L1253L Score=605;Name=lod=384 NA 3q22.1 NA NA NA NA rs6794496 0.24 0.24 0.236 0.223243 0.159 0.5714 0.0706 0.0923 0.2157 0.16 0.58 0.07 0.1 0.1639 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79876 NA NA 0.132791 0.114163 NA 0.217 NA 6.2109756 1031 21 38308911 38308911 G A exonic HLCS NA synonymous SNV HLCS:NM_000411:exon5:c.C834T:p.S278S,HLCS:NM_001242784:exon5:c.C834T:p.S278S,HLCS:NM_001242785:exon5:c.C834T:p.S278S exonic ENSG00000159267 NA synonymous SNV ENSG00000159267:ENST00000336648:exon5:c.C834T:p.S278S,ENSG00000159267:ENST00000399120:exon5:c.C834T:p.S278S NA NA 21q22.13 NA NA NA NA rs1065758 0.09 0.09 0.096 0.0712859 0.172 0.0417 0.0821 0.031 0.045 0.17 0.05 0.08 0.02 0.1208 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856532 NA NA 0.163605 0.054925 NA 0.094 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078724.3;CLNDSDB=.;CLNDSDBID=. 6.2102616 1031 19 42354629 42354629 T C exonic DMRTC2 NA synonymous SNV DMRTC2:NM_001040283:exon8:c.T852C:p.G284G exonic ENSG00000142025 NA synonymous SNV ENSG00000142025:ENST00000596827:exon7:c.T1005C:p.G335G,ENSG00000142025:ENST00000269945:exon8:c.T852C:p.G284G Score=496;Name=lod=138 NA 19q13.2 Score=923;Name=V$TAL1ALPHAE47_01,V$TAL1BETAITF2_01 NA NA NA rs2305809 0.6 0.6 0.602 0.608427 0.4702 0.5258 0.572 0.916 0.4458 0.48 0.56 0.52 0.89 0.5079 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040361 NA NA 0.478372 0.834317 NA 0.594 NA 6.2101946 1031 19 46352122 46352122 A G exonic SYMPK NA synonymous SNV SYMPK:NM_004819:exon6:c.T312C:p.I104I exonic ENSG00000125755 NA synonymous SNV ENSG00000125755:ENST00000600237:exon5:c.T312C:p.I104I,ENSG00000125755:ENST00000245934:exon6:c.T312C:p.I104I,ENSG00000125755:ENST00000598059:exon6:c.T312C:p.I104I,ENSG00000125755:ENST00000602061:exon6:c.T312C:p.I104I,ENSG00000125755:ENST00000594293:exon7:c.T312C:p.I104I Score=674;Name=lod=734 NA 19q13.32 NA NA NA NA rs2303014 0.12 0.12 0.1 0.123602 0.1581 0.0952 0.2233 0.031 0.1718 0.16 0.09 0.19 0.02 0.1507 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320546 1.320546 NA 0.147674 0.05379 NA 0.051 NA 6.2101926 1031 2 170103336 170103336 T C exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon21:c.A3069G:p.T1023T exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000443831:exon19:c.A2658G:p.T886T,ENSG00000081479:ENST00000263816:exon21:c.A3069G:p.T1023T NA NA 2q31.1 Score=801;Name=V$CDPCR3_01 NA NA NA rs831043 0.54 0.54 0.495 0.61861 0.4622 0.4792 0.6369 0.7201 0.773 0.46 0.46 0.62 0.69 0.5385 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051052 NA NA 0.45593 0.691557 NA 0.616 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117524.2;CLNDSDB=.;CLNDSDBID=. 6.2100366 1031 1 181706685 181706685 C T exonic CACNA1E NA synonymous SNV CACNA1E:NM_001205294:exon22:c.C3390T:p.I1130I,CACNA1E:NM_000721:exon23:c.C3447T:p.I1149I,CACNA1E:NM_001205293:exon23:c.C3447T:p.I1149I exonic ENSG00000198216 NA synonymous SNV ENSG00000198216:ENST00000358338:exon22:c.C3243T:p.I1081I,ENSG00000198216:ENST00000360108:exon22:c.C3390T:p.I1130I,ENSG00000198216:ENST00000526775:exon22:c.C3390T:p.I1130I,ENSG00000198216:ENST00000357570:exon23:c.C3300T:p.I1100I,ENSG00000198216:ENST00000367567:exon23:c.C2268T:p.I756I,ENSG00000198216:ENST00000367570:exon23:c.C3447T:p.I1149I,ENSG00000198216:ENST00000367573:exon23:c.C3447T:p.I1149I Score=620;Name=lod=441 NA 1q25.3 NA NA NA NA rs34488539 0.16 0.16 0.152 0.183107 0.159 0.0506 0.1513 0.2587 0.2648 0.16 0.04 0.17 0.27 0.1545 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.384235 1.384235 NA 0.14333 0.206758 NA 0.123 NA 6.2098366 1031 16 53262964 53262964 C T exonic CHD9 NA synonymous SNV CHD9:NM_025134:exon8:c.C2238T:p.I746I exonic ENSG00000177200 NA synonymous SNV ENSG00000177200:ENST00000398510:exon7:c.C2238T:p.I746I,ENSG00000177200:ENST00000565803:exon7:c.C816T:p.I272I,ENSG00000177200:ENST00000447540:exon8:c.C2238T:p.I746I,ENSG00000177200:ENST00000564845:exon8:c.C2238T:p.I746I,ENSG00000177200:ENST00000566029:exon8:c.C2238T:p.I746I Score=686;Name=lod=822 NA 16q12.2 NA NA NA NA rs35198193 0.14 0.14 0.143 0.135982 0.1282 0.1944 0.0533 0.0658 0.2372 0.13 0.24 0.07 0.1 0.2035 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164958 NA NA 0.125245 0.071152 NA 0.109 NA 6.2097216 1031 14 79181226 79181226 C T exonic NRXN3 NA synonymous SNV NRXN3:NM_004796:exon5:c.C669T:p.T223T exonic ENSG00000021645 NA synonymous SNV ENSG00000021645:ENST00000335750:exon5:c.C669T:p.T223T,ENSG00000021645:ENST00000554719:exon5:c.C669T:p.T223T,ENSG00000021645:ENST00000554738:exon7:c.C1782T:p.T594T NA NA 14q24.3 Score=980;Name=V$MZF1_01 NA NA NA rs1004212 0.17 0.17 0.177 0.196486 0.1471 0.0625 0.1066 0.3366 0.2597 0.16 0.06 0.12 0.35 0.164 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920476 NA NA 0.14686 0.294598 NA 0.283 NA 6.2087066 1031 17 15690888 15690888 C G ncRNA_exonic MEIS3P1 NA NA NA ncRNA_exonic ENSG00000179277 NA NA NA Score=767;Name=lod=1747 NA 17p12 NA Name=NRSF NA NA rs4791638 0.2 0.2 0.148 0.171326 0.2356 0.1895 0.1945 0.059 0.2219 0.27 0.24 0.2 0.06 0.2235 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032098 NA NA NA NA NA 0.145 NA 6.2075666 1031 2 26177198 26177198 A G exonic KIF3C NA synonymous SNV KIF3C:NM_002254:exon4:c.T1827C:p.Y609Y exonic ENSG00000084731 NA synonymous SNV ENSG00000084731:ENST00000264712:exon4:c.T1827C:p.Y609Y,ENSG00000084731:ENST00000417737:exon4:c.T1827C:p.Y609Y,ENSG00000084731:ENST00000455394:exon4:c.T1827C:p.Y609Y,ENSG00000084731:ENST00000405914:exon5:c.T1827C:p.Y609Y Score=522;Name=lod=176 NA 2p23.3 NA NA NA NA rs17047211 0.14 0.14 0.142 0.140375 0.1481 0.001 0.121 0.2685 0.1166 0.15 0.0017 0.16 0.27 0.1544 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.251821 1.251821 NA 0.156628 0.251475 NA 0.21 NA 6.2075386 1031 15 45983276 45983276 G T UTR3 SQRDL NM_001271213:c.*48G>T,NM_021199:c.*48G>T NA NA UTR3 ENSG00000137767 ENST00000568606:c.*48G>T,ENST00000260324:c.*48G>T NA NA NA NA 15q21.1 Score=807;Name=V$HNF1_C NA Name=8 NA rs11855175 0.02 0.02 0.022 0.0213658 0.0378 NA 0.0331 0.0015 0.045 0.04 NA 0.04 0.01 0.0356 0.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565247 NA NA 0.05306 0.009554 NA 0.007 NA 6.2068734 1031 22 37622815 37622815 A G exonic RAC2 NA synonymous SNV RAC2:NM_002872:exon6:c.T477C:p.A159A exonic ENSG00000128340 NA synonymous SNV ENSG00000128340:ENST00000249071:exon6:c.T477C:p.A159A,ENSG00000128340:ENST00000405484:exon6:c.T456C:p.A152A,ENSG00000128340:ENST00000406508:exon6:c.T345C:p.A115A,ENSG00000128340:ENST00000441619:exon7:c.T477C:p.A159A Score=496;Name=lod=138 NA 22q13.1 NA NA NA NA rs1064498 0.24 0.24 0.259 0.247404 0.1501 0.3105 0.1023 0.4508 0.1104 0.15 0.28 0.1 0.46 0.1703 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.413217 1.413217 NA 0.140963 0.389923 NA 0.21 NA 6.2053036 1032 7 6036980 6036980 G C exonic PMS2 NA synonymous SNV PMS2:NM_000535:exon7:c.C780G:p.S260S exonic ENSG00000122512 NA synonymous SNV ENSG00000122512:ENST00000441476:exon4:c.C462G:p.S154S,ENSG00000122512:ENST00000265849:exon7:c.C780G:p.S260S,ENSG00000122512:ENST00000382321:exon7:c.C780G:p.S260S,ENSG00000122512:ENST00000406569:exon7:c.C780G:p.S260S NA NA 7p22.1 NA Name=SMC3_(ab9263),Rad21,CTCF,CTCF_(SC-5916),CTCF_(C-20) Name=139 NA rs1805319 0.84 0.84 0.864 0.83127 0.836 0.879 0.7478 0.8555 0.8037 0.84 0.91 0.73 0.84 0.8109 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904149 NA NA 0.814767 0.841353 NA 0.848 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp|single|single;CLNACC=RCV000030372.2|RCV000079112.1|RCV000131484.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|.|C0027672 6.2049996 1032 6 32362639 32362639 G A exonic BTNL2 NA synonymous SNV BTNL2:NM_019602:exon6:c.C1242T:p.H414H exonic ENSG00000204290 NA synonymous SNV ENSG00000204290:ENST00000414363:exon4:c.C612T:p.H204H,ENSG00000204290:ENST00000540315:exon4:c.C612T:p.H204H,ENSG00000204290:ENST00000544175:exon5:c.C411T:p.H137H,ENSG00000204290:ENST00000374993:exon6:c.C1242T:p.H414H,ENSG00000204290:ENST00000374995:exon6:c.C960T:p.H320H,ENSG00000204290:ENST00000454136:exon6:c.C1242T:p.H414H NA NA 6p21.32 Score=728;Name=V$NRSF_01 NA NA NA rs41535850 0.16 0.16 0.155 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 0.155 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099247 NA NA 0.144302 0.125057 NA 0.188 NA 6.2043646 1032 9 79325297 79325297 T G exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.A1893C:p.T631T exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.A1893C:p.T631T,ENSG00000106772:ENST00000428286:exon8:c.A816C:p.T272T Score=343;Name=lod=33 NA 9q21.2 NA NA NA NA rs11145018 0.26 0.26 0.264 0.238019 0.1551 0.4643 0.1599 0.2126 0.18 0.15 0.5 0.14 0.22 0.1845 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475044 NA NA 0.123116 0.200255 NA 0.167 NA 6.2039506 1032 16 66600479 66600479 G A exonic CMTM1 NA synonymous SNV CMTM1:NM_052999:exon1:c.G63A:p.P21P,CMTM1:NM_181268:exon1:c.G63A:p.P21P,CMTM1:NM_181269:exon1:c.G63A:p.P21P,CMTM1:NM_181270:exon1:c.G63A:p.P21P,CMTM1:NM_181271:exon1:c.G63A:p.P21P,CMTM1:NM_181272:exon1:c.G63A:p.P21P,CMTM1:NM_181283:exon1:c.G63A:p.P21P,CMTM1:NM_181296:exon1:c.G63A:p.P21P exonic ENSG00000089505 NA synonymous SNV ENSG00000089505:ENST00000328020:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000332695:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000333001:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000336328:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000379500:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000457188:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000528324:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000528484:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000529386:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000529506:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000531885:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000533078:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000533666:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000533915:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000533953:exon1:c.G63A:p.P21P,ENSG00000089505:ENST00000535705:exon1:c.G63A:p.P21P NA NA 16q21 NA NA Name=4 NA rs7193473 0.29 0.29 0.28 0.320687 0.1362 0.3006 0.2723 0.5643 0.2362 0.13 0.29 0.26 0.55 0.2071 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434138 NA NA 0.119884 0.517038 NA 0.232 NA 6.2034826 1032 16 84218565 84218565 T C exonic TAF1C NA synonymous SNV TAF1C:NM_001243156:exon2:c.A30G:p.A10A,TAF1C:NM_005679:exon2:c.A30G:p.A10A exonic ENSG00000103168 NA synonymous SNV ENSG00000103168:ENST00000378541:exon1:c.A30G:p.A10A,ENSG00000103168:ENST00000564345:exon2:c.A30G:p.A10A,ENSG00000103168:ENST00000564454:exon2:c.A30G:p.A10A,ENSG00000103168:ENST00000566732:exon2:c.A30G:p.A10A,ENSG00000103168:ENST00000566903:exon2:c.A30G:p.A10A,ENSG00000103168:ENST00000567759:exon2:c.A30G:p.A10A,ENSG00000103168:ENST00000569609:exon2:c.A30G:p.A10A NA NA 16q24.1 NA NA Name=14 NA rs2230126 0.18 0.18 0.175 0.197684 0.1521 0.2639 0.0749 0.2421 0.2035 0.15 0.23 0.1 0.22 0.1662 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933325 NA NA 0.145615 0.221136 NA 0.188 NA 6.2027516 1032 19 19655670 19655670 C T exonic CILP2 NA synonymous SNV CILP2:NM_153221:exon8:c.C2316T:p.S772S exonic ENSG00000160161 NA synonymous SNV ENSG00000160161:ENST00000291495:exon8:c.C2316T:p.S772S,ENSG00000160161:ENST00000586018:exon8:c.C2334T:p.S778S NA NA 19p13.11 Score=876;Name=V$SPZ1_01 NA NA NA rs11669558 0.13 0.13 0.126 0.117013 0.166 NA 0.1167 0.177 0.1063 0.15 NA 0.14 0.23 0.1461 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178973 NA NA 0.152074 0.153675 NA 0.123 NA 6.2024926 1032 2 70520846 70520846 C T UTR5 SNRPG NM_003096:c.-65G>A NA NA UTR5 ENSG00000143977 ENST00000272348:c.-65G>A NA NA NA NA 2p13.3 NA Name=SIX5,Oct-2,Max,c-Myc,ELF1_(SC-631),NFKB,HEY1,TBP,GTF2F1_(RAP-74),CEBPB,IRF1,CHD2_(N-1250),TCF12,GTF2B,E2F4,ELK4,POU2F2,GABP,ZBTB33,FOSL2,JunD,Pol2(b),TAF1,Sin3Ak-20,BRCA1_(C-1863),HA-E2F1,ZNF263,KAP1,GATA-2,Pol2-4H8,eGFP-JunD,Pol2,RFX5_(N-494),YY1,Pol2(phosphoS2) Name=148 NA rs15656 0.08 0.08 0.056 0.0690895 0.0686 0.1607 0.0778 0.0159 0.0409 0.07 0.16 0.05 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.435587 1.435587 NA 0.063482 0.031792 NA 0.072 NA 6.2012514 1032 19 41809995 41809995 A G exonic HNRNPUL1 NA synonymous SNV HNRNPUL1:NM_007040:exon13:c.A2091G:p.P697P,HNRNPUL1:NM_144732:exon13:c.A1791G:p.P597P exonic ENSG00000105323 NA synonymous SNV ENSG00000105323:ENST00000378215:exon12:c.A1749G:p.P583P,ENSG00000105323:ENST00000263367:exon13:c.A1824G:p.P608P,ENSG00000105323:ENST00000352456:exon13:c.A1791G:p.P597P,ENSG00000105323:ENST00000392006:exon13:c.A2091G:p.P697P,ENSG00000105323:ENST00000593587:exon13:c.A1791G:p.P597P,ENSG00000105323:ENST00000595018:exon13:c.A1791G:p.P597P,ENSG00000105323:ENST00000602130:exon13:c.A2091G:p.P697P NA NA 19q13.2 Score=1000;Name=V$AML1_01 NA NA NA rs1056854 0.15 0.15 0.125 0.1248 0.171 0.2034 0.1311 0.0673 0.0695 0.16 0.22 0.16 0.06 0.1393 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320222 NA NA 0.155188 0.088062 NA 0.109 NA 6.2011786 1032 22 34022284 34022284 G A exonic LARGE NA synonymous SNV LARGE:NM_133642:exon4:c.C435T:p.A145A,LARGE:NM_004737:exon5:c.C435T:p.A145A exonic ENSG00000133424 NA synonymous SNV ENSG00000133424:ENST00000397394:exon4:c.C435T:p.A145A,ENSG00000133424:ENST00000402320:exon4:c.C435T:p.A145A,ENSG00000133424:ENST00000437602:exon4:c.C435T:p.A145A,ENSG00000133424:ENST00000337431:exon5:c.C435T:p.A145A,ENSG00000133424:ENST00000354992:exon5:c.C435T:p.A145A Score=619;Name=lod=437 NA 22q12.3 NA NA NA NA rs86487 0.44 0.44 0.4 0.412939 0.505 0.5615 0.4841 0.1082 0.5266 0.51 0.56 0.51 0.13 0.4771 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.591014 1.591014 NA 0.483605 0.16364 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081181.1;CLNDSDB=.;CLNDSDBID=. 6.2009616 1032 8 125498547 125498547 C T exonic RNF139 NA synonymous SNV RNF139:NM_007218:exon2:c.C657T:p.Y219Y exonic ENSG00000170881 NA synonymous SNV ENSG00000170881:ENST00000303545:exon2:c.C657T:p.Y219Y Score=662;Name=lod=652 NA 8q24.13 NA NA Name=12 NA rs3812471 0.55 0.55 0.564 0.570887 0.494 0.4355 0.4755 0.7912 0.5593 0.5 0.42 0.52 0.8 0.5071 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.128153 NA NA 0.464767 0.702905 NA 0.493 NA 6.2007996 1032 13 108861913 108861913 A G exonic LIG4 NA synonymous SNV LIG4:NM_001098268:exon2:c.T1704C:p.D568D,LIG4:NM_002312:exon2:c.T1704C:p.D568D,LIG4:NM_206937:exon3:c.T1704C:p.D568D exonic ENSG00000174405 NA synonymous SNV ENSG00000174405:ENST00000356922:exon2:c.T1704C:p.D568D,ENSG00000174405:ENST00000405925:exon2:c.T1704C:p.D568D,ENSG00000174405:ENST00000442234:exon2:c.T1704C:p.D568D NA NA 13q33.3 NA NA NA NA rs1805386 0.09 0.09 0.089 0.0686901 0.1481 0.001 0.1326 0.0507 0.0358 0.15 NA 0.15 0.08 0.1344 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000136 NA NA 0.183837 0.079891 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117489.2;CLNDSDB=.;CLNDSDBID=. 6.2003296 1032 17 4802329 4802329 G A exonic CHRNE NA synonymous SNV CHRNE:NM_000080:exon11:c.C1293T:p.A431A exonic ENSG00000108556 NA synonymous SNV ENSG00000108556:ENST00000293780:exon11:c.C1293T:p.A431A NA NA 17p13.2 NA NA NA NA rs33978919 0.17 0.17 0.184 0.191294 0.1461 0.0655 0.2176 0.3298 0.1616 0.13 0.06 0.21 0.35 0.1804 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966429 NA NA 0.140047 0.279519 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116735.1;CLNDSDB=.;CLNDSDBID=. 6.2001196 1032 3 186509517 186509517 G A exonic RFC4 NA synonymous SNV RFC4:NM_002916:exon8:c.C798T:p.A266A,RFC4:NM_181573:exon8:c.C798T:p.A266A exonic ENSG00000163918 NA synonymous SNV ENSG00000163918:ENST00000417876:exon1:c.C123T:p.A41A,ENSG00000163918:ENST00000433496:exon7:c.C798T:p.A266A,ENSG00000163918:ENST00000296273:exon8:c.C798T:p.A266A,ENSG00000163918:ENST00000392481:exon8:c.C798T:p.A266A Score=502;Name=lod=146 NA 3q27.3 NA NA Name=53 NA rs187868 0.5 0.5 0.493 0.483826 0.494 0.5 0.4942 0.4402 0.5082 0.5 0.54 0.46 0.5 0.4918 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.407822 1.407822 NA 0.480814 0.463005 ID=COSM1421534;OCCURENCE=1(large_intestine) 0.312 NA 6.2000526 1032 3 42201759 42201759 G A UTR5 TRAK1 NM_014965:c.-95G>A NA NA UTR5 ENSG00000182606 ENST00000396175:c.-95G>A,ENST00000341421:c.-95G>A NA NA Score=243;Name=lod=13 NA 3p22.1 NA Name=FOXA1_(C-20),TAF1,Pol2-4H8,Pol2,HEY1,FOXA2_(SC-6554),FOXA1_(SC-101058),ELF1_(SC-631),AP-2gamma NA NA rs9755034 0.07 0.07 0.056 0.0666933 0.1342 0.0308 0.0749 0.0197 0.092 0.13 0.02 0.1 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040762 NA NA NA NA NA 0.138 NA 6.1991334 1032 17 59544863 59544863 G A intronic TBX4 NA NA NA intronic ENSG00000121075 NA NA NA Score=500;Name=lod=143 NA 17q23.2 NA Name=GATA-2 Name=95 NA rs758596 0.32 0.32 0.318 0.347843 0.2584 0.3859 0.2046 0.4637 0.3456 0.26 0.37 0.2 0.45 0.2802 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.032354 2.032354 NA 0.263023 0.41557 NA 0.362 NA 6.198377 1032 4 100045616 100045616 C T exonic ADH4 NA nonsynonymous SNV ADH4:NM_000670:exon9:c.G1120A:p.V374I exonic ENSG00000198099 NA nonsynonymous SNV ENSG00000198099:ENST00000265512:exon9:c.G1120A:p.V374I,ENSG00000198099:ENST00000423445:exon9:c.G1177A:p.V393I,ENSG00000198099:ENST00000505590:exon10:c.G1177A:p.V393I,ENSG00000198099:ENST00000508393:exon10:c.G1177A:p.V393I Score=300;Name=lod=22 NA 4q23 NA NA NA NA rs1126673 0.82 0.82 0.834 0.847244 0.6978 0.999 0.7709 0.8608 0.8804 0.7 1 0.76 0.84 0.7549 1 1 T 0.004 B 0.003 B 0.003 N 0.999 P -0.505 N 4.11 T -0.997 T 0.000 T 0.123 -1.995 0.007 0.629 0.133 0.511 3.592 -1.995442 NA 1 0.682643 0.822661 NA 0.739 NA 6.1979904 1032 22 24579158 24579158 A C exonic SUSD2 NA synonymous SNV SUSD2:NM_019601:exon2:c.A210C:p.G70G exonic ENSG00000099994 NA synonymous SNV ENSG00000099994:ENST00000358321:exon2:c.A210C:p.G70G Score=393;Name=lod=53 NA 22q11.23 NA NA NA NA rs76831457 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.09008 NA NA NA NA ID=COSM1180265;OCCURENCE=1(prostate) NA NA 6.1966666 1032 22 24035970 24035970 C T exonic RGL4 NA nonsynonymous SNV RGL4:NM_153615:exon4:c.C721T:p.H241Y exonic ENSG00000159496 NA nonsynonymous SNV ENSG00000159496:ENST00000290691:exon4:c.C721T:p.H241Y,ENSG00000159496:ENST00000423392:exon4:c.C721T:p.H241Y,ENSG00000159496:ENST00000401461:exon5:c.C313T:p.H105Y,ENSG00000159496:ENST00000441897:exon6:c.C721T:p.H241Y NA NA 22q11.23 NA NA NA NA rs2070446 0.76 0.76 0.792 0.774561 0.7018 0.6687 0.768 0.9607 0.7117 0.72 0.67 0.72 0.96 0.7289 0.96 1 T 0.001 B 0.004 B 0.502 N 1.000 P -0.55 N 1.58 T -1.002 T 0.000 T 0.09 -1.483 0.018 -1.06 -0.608 1.616 8.453 -1.483311 NA 1 0.706163 0.92601 NA 0.833 NA 6.1964704 1032 19 39019153 39019153 A G intronic RYR1 NA NA NA ncRNA_exonic ENSG00000269445 NA NA NA NA NA 19q13.2 NA NA Name=8 NA rs6508806 0.17 0.17 0.137 0.201478 0.1372 0.2431 0.2565 0.1082 0.3119 0.14 0.21 0.23 0.12 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718286 NA NA NA NA NA 0.203 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119422.1;CLNDSDB=.;CLNDSDBID=. 6.1961333 1032 19 855966 855966 C A exonic ELANE NA synonymous SNV ELANE:NM_001972:exon5:c.C606A:p.S202S exonic ENSG00000197561 NA synonymous SNV ENSG00000197561:ENST00000263621:exon5:c.C606A:p.S202S,ENSG00000197561:ENST00000590230:exon6:c.C606A:p.S202S Score=471;Name=lod=109 NA 19p13.3 NA NA NA NA rs17216649 0.07 0.07 0.071 0.0485224 0.169 0.002 0.0648 0.0053 0.0194 0.17 0.0017 0.07 0.01 0.1223 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761358 NA NA 0.180042 0.036541 ID=COSM440687;OCCURENCE=1(breast) 0.109 NA 6.1953246 1032 9 27220066 27220066 G A exonic TEK NA synonymous SNV TEK:NM_000459:exon21:c.G3123A:p.G1041G exonic ENSG00000120156 NA synonymous SNV ENSG00000120156:ENST00000519097:exon19:c.G2679A:p.G893G,ENSG00000120156:ENST00000406359:exon20:c.G2994A:p.G998G,ENSG00000120156:ENST00000380036:exon21:c.G3123A:p.G1041G Score=483;Name=lod=123 NA 9p21.2 NA NA NA NA rs2273719 0.19 0.19 0.188 0.224241 0.1332 0.1736 0.1614 0.3888 0.1922 0.15 0.16 0.15 0.32 0.18 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049194 NA NA 0.158372 0.353836 NA 0.21 NA 6.1950946 1033 5 132198100 132198100 C T exonic GDF9 NA synonymous SNV GDF9:NM_005260:exon2:c.G546A:p.E182E exonic ENSG00000164404 NA synonymous SNV ENSG00000164404:ENST00000296875:exon2:c.G546A:p.E182E,ENSG00000164404:ENST00000378673:exon3:c.G546A:p.E182E NA NA 5q31.1 NA Name=STAT1,STAT2 NA NA rs10491279 0.16 0.16 0.159 0.134784 0.1561 0.1498 0.1138 0.1952 0.0307 0.15 0.15 0.14 0.21 0.1426 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153172 NA NA 0.173023 0.209941 NA 0.167 NA 6.1949436 1033 17 15644506 15644506 C T exonic TBC1D26 NA nonsynonymous SNV TBC1D26:NM_178571:exon10:c.C617T:p.A206V exonic ENSG00000214946 NA nonsynonymous SNV ENSG00000214946:ENST00000437605:exon10:c.C617T:p.A206V,ENSG00000214946:ENST00000469477:exon10:c.C617T:p.A206V Score=295;Name=lod=21 NA 17p12 NA NA NA NA rs11650318 0.26 0.26 0.228 0.246605 0.3946 0.255 0.2651 0.0817 0.2955 0.39 0.24 0.29 0.07 0.3445 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.577114 2.577114 NA 0.399487 0.131916 NA 0.239 NA 6.1947464 1033 6 32026107 32026107 C T exonic TNXB NA nonsynonymous SNV TNXB:NM_019105:exon22:c.G7553A:p.G2518E exonic ENSG00000168477 NA nonsynonymous SNV ENSG00000168477:ENST00000375244:exon22:c.G7553A:p.G2518E,ENSG00000168477:ENST00000375247:exon22:c.G7553A:p.G2518E NA NA 6p21.33 NA NA NA NA rs1009382 0.69 0.69 0.684 0.696086 0.7187 0.6577 0.7594 0.6248 0.7638 0.72 0.65 0.77 0.64 0.7192 0.77 1 T 0.0 B 0.001 B 0.110 N 1.000 P -0.975 N 3.59 T -0.948 T 0.001 T 0.057 -2.509 0.003 3.3 0.237 . 1.605 -2.508586 NA 1 0.700918 0.652381 NA 0.703 NA 6.1945154 1033 6 32713018 32713018 C T exonic HLA-DQA2 NA synonymous SNV HLA-DQA2:NM_020056:exon2:c.C165T:p.D55D exonic ENSG00000237541 NA synonymous SNV ENSG00000237541:ENST00000374940:exon2:c.C165T:p.D55D Score=429;Name=lod=74 NA 6p21.32 NA NA NA NA rs17213281 0.15 0.15 0.136 0.174121 0.1571 0.0734 0.2089 0.27 0.1411 0.14 0.06 0.21 0.24 0.155 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.258039 NA NA 0.160576 0.221377 NA 0.159 NA 6.1939906 1033 1 110233147 110233147 C T exonic GSTM1 NA synonymous SNV GSTM1:NM_000561:exon7:c.C528T:p.D176D exonic ENSG00000134184 NA synonymous SNV ENSG00000134184:ENST00000309851:exon7:c.C528T:p.D176D,ENSG00000134184:ENST00000369823:exon7:c.C585T:p.D195D NA NA 1p13.3 Score=895;Name=V$IK1_01 NA NA NA rs1056806 0.19 0.19 0.216 0.228235 0.1581 0.2034 0.2219 0.2413 0.3129 0.13 0.17 0.2 0.28 0.1996 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611067 NA NA 0.115226 0.243375 ID=COSM1332500;OCCURENCE=2(large_intestine) 0.072 NA 6.1937406 1033 11 117303858 117303858 T C exonic DSCAML1 NA synonymous SNV DSCAML1:NM_020693:exon29:c.A5202G:p.Q1734Q exonic ENSG00000177103 NA synonymous SNV ENSG00000177103:ENST00000527706:exon27:c.A4392G:p.Q1464Q,ENSG00000177103:ENST00000321322:exon29:c.A5202G:p.Q1734Q Score=615;Name=lod=422 NA 11q23.3 NA NA NA NA rs11216382 0.16 0.16 0.159 0.140974 0.1551 0.0565 0.1758 0.2557 0.0337 0.16 0.05 0.19 0.28 0.1504 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991772 NA NA 0.167481 0.244662 NA 0.203 NA 6.1936856 1033 19 42342319 42342319 A G exonic LYPD4 NA synonymous SNV LYPD4:NM_173506:exon4:c.T228C:p.V76V exonic ENSG00000183103 NA synonymous SNV ENSG00000183103:ENST00000343055:exon2:c.T123C:p.V41V,ENSG00000183103:ENST00000330743:exon4:c.T228C:p.V76V,ENSG00000183103:ENST00000601246:exon5:c.T123C:p.V41V Score=383;Name=lod=48 NA 19q13.2 NA NA Name=2 NA rs2290695 0.6 0.6 0.595 0.605431 0.4722 0.5208 0.5764 0.91 0.4387 0.48 0.56 0.52 0.89 0.5192 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823394 NA NA 0.48186 0.833409 NA 0.594 NA 6.1934066 1033 6 32629891 32629891 C T exonic HLA-DQB1 NA nonsynonymous SNV HLA-DQB1:NM_001243961:exon3:c.G514A:p.A172T,HLA-DQB1:NM_002123:exon3:c.G514A:p.A172T exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000399082:exon2:c.G244A:p.A82T,ENSG00000179344:ENST00000374943:exon3:c.G514A:p.A172T,ENSG00000179344:ENST00000399079:exon3:c.G514A:p.A172T,ENSG00000179344:ENST00000434651:exon3:c.G514A:p.A172T,ENSG00000179344:ENST00000399084:exon4:c.G514A:p.A172T NA NA 6p21.32 NA NA NA NA rs1063323 0.42 0.42 0.344 0.395168 0.3946 0.4782 0.5447 0.3154 0.3119 0.4 0.49 0.52 0.31 0.3947 0.52 0.26 T 0.008 B 0.008 B 0.084 N 1.000 P . . 4.15 T -0.899 T 0.003 T 0.286 -0.725 0.892 1.78 0.057 0.431 8.606 -0.725235 NA 0.16 0.35064 0.288321 NA 0.116 NA 6.1933934 1033 19 47770032 47770032 C T exonic CCDC9 NA synonymous SNV CCDC9:NM_015603:exon8:c.C885T:p.A295A exonic ENSG00000105321 NA synonymous SNV ENSG00000105321:ENST00000221922:exon8:c.C885T:p.A295A NA NA 19q13.32 NA Name=c-Myc NA NA rs60383222 0.12 0.12 0.131 0.138578 0.1471 0.0754 0.0865 0.1278 0.2464 0.17 0.05 0.09 0.13 0.1742 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301813 NA NA 0.152558 0.118355 NA 0.087 NA 6.1928086 1033 17 42949808 42949808 G A intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 Score=921;Name=V$CEBP_01 NA Name=31 NA rs11654183 0.26 0.26 0.257 0.242612 0.2624 0.249 0.2277 0.23 0.2434 0.27 0.28 0.26 0.22 0.2673 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197114 NA NA 0.277791 0.239446 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116956.2;CLNDSDB=.;CLNDSDBID=. 6.192509 1033 1 10218439 10218439 T C exonic UBE4B NA synonymous SNV UBE4B:NM_006048:exon21:c.T2565C:p.S855S,UBE4B:NM_001105562:exon22:c.T2952C:p.S984S exonic ENSG00000130939 NA synonymous SNV ENSG00000130939:ENST00000253251:exon21:c.T2565C:p.S855S,ENSG00000130939:ENST00000377157:exon21:c.T2217C:p.S739S,ENSG00000130939:ENST00000343090:exon22:c.T2952C:p.S984S Score=695;Name=lod=886 NA 1p36.22 NA NA NA NA rs2273299 0.34 0.34 0.351 0.365815 0.1392 0.2956 0.1873 0.8033 0.2065 0.14 0.29 0.2 0.79 0.203 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.57941 1.57941 NA 0.131977 0.667726 ID=COSM146388;OCCURENCE=1(stomach) 0.362 NA 6.1924896 1033 12 52681416 52681416 T C exonic KRT81 NA synonymous SNV KRT81:NM_002281:exon6:c.A990G:p.Q330Q exonic ENSG00000205426 NA synonymous SNV ENSG00000205426:ENST00000327741:exon6:c.A990G:p.Q330Q Score=601;Name=lod=369 NA 12q13.13 NA Name=Pol2 NA NA rs7300801 0.36 0.36 0.322 0.420527 0.5169 0.1577 0.3761 0.5688 0.4233 0.44 0.15 0.35 0.48 0.4633 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.235207 1.235207 NA 0.494535 0.551294 NA 0.5 NA 6.1919316 1033 7 154681216 154681216 G A exonic DPP6 NA synonymous SNV DPP6:NM_001039350:exon25:c.G2235A:p.R745R,DPP6:NM_001936:exon25:c.G2241A:p.R747R,DPP6:NM_130797:exon25:c.G2427A:p.R809R exonic ENSG00000130226 NA synonymous SNV ENSG00000130226:ENST00000427557:exon23:c.G2106A:p.R702R,ENSG00000130226:ENST00000332007:exon25:c.G2241A:p.R747R,ENSG00000130226:ENST00000377770:exon25:c.G2427A:p.R809R,ENSG00000130226:ENST00000404039:exon25:c.G2235A:p.R745R Score=514;Name=lod=163 NA 7q36.2 NA NA NA NA rs1129301 0.25 0.25 0.232 0.263978 0.1243 0.4663 0.1398 0.351 0.1697 0.12 0.42 0.14 0.36 0.2107 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.09437 NA NA 0.140034 0.345809 NA 0.196 NA 6.1916326 1033 19 19654189 19654189 G A exonic CILP2 NA synonymous SNV CILP2:NM_153221:exon7:c.G1110A:p.S370S exonic ENSG00000160161 NA synonymous SNV ENSG00000160161:ENST00000291495:exon7:c.G1110A:p.S370S,ENSG00000160161:ENST00000586018:exon7:c.G1128A:p.S376S NA NA 19p13.11 Score=756;Name=V$MYOGNF1_01 NA NA NA rs45556231 0.12 0.12 0.13 0.118411 0.166 NA 0.1167 0.1634 0.1319 0.15 NA 0.14 0.21 0.145 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388965 NA NA 0.165155 0.162506 ID=COSM1129943;OCCURENCE=1(prostate) 0.123 NA 6.1905116 1033 15 52401951 52401951 G A UTR3 BCL2L10 NM_020396:c.*94C>T NA NA UTR3 ENSG00000137875 ENST00000260442:c.*94C>T,ENST00000561198:c.*53C>T NA NA NA NA 15q21.2 NA Name=NFKB,BCL3,PAX5-N19,PAX5-C20,TCF12,EBF,Oct-2,BATF,POU2F2,BCL11A Name=9 NA rs2227308 0.15 0.15 0.117 0.148762 0.1431 0.1865 0.3228 0.0234 0.1616 0.14 0.19 0.3 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879837 NA NA NA NA NA 0.152 NA 6.1902334 1033 3 125648165 125648165 T C ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA NA NA 3q21.2 NA Name=CTCF_(SC-5916),CTCF,Rad21,CTCF_(C-20) Name=52 NA rs9826071 0.21 0.21 0.194 0.223442 0.171 0.1071 0.147 0.4478 0.1483 0.17 0.1 0.17 0.45 0.1529 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444515 NA NA 0.153035 0.341026 NA 0.094 NA 6.1897316 1033 11 117097952 117097952 C T exonic PCSK7 NA synonymous SNV PCSK7:NM_004716:exon5:c.G690A:p.T230T exonic ENSG00000160613 NA synonymous SNV ENSG00000160613:ENST00000525027:exon3:c.G690A:p.T230T,ENSG00000160613:ENST00000320934:exon5:c.G690A:p.T230T NA NA 11q23.3 Score=825;Name=V$GR_Q6 NA NA NA rs2306473 0.18 0.18 0.18 0.209465 0.1332 0.0675 0.232 0.3971 0.1646 0.13 0.09 0.2 0.36 0.1915 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430007 NA NA 0.152584 0.344389 ID=COSM428471;OCCURENCE=1(breast) 0.159 NA 6.1893826 1033 17 76468843 76468843 C T intronic DNAH17 NA NA NA exonic ENSG00000187775 NA unknown UNKNOWN NA NA 17q25.3 NA Name=EBF1_(C-8),SP1,IRF4_(M-17),TCF12,PAX5-C20,PAX5-N19,EBF Name=8 NA rs55655829 0.14 0.14 0.126 0.15016 0.1233 0.1895 0.0965 0.1195 0.2168 0.13 0.18 0.11 0.12 0.1885 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750868 NA NA NA NA NA 0.087 NA 6.1882 1033 1 101203698 101203698 C T exonic VCAM1 NA synonymous SNV VCAM1:NM_080682:exon8:c.C1803T:p.D601D,VCAM1:NM_001078:exon9:c.C2079T:p.D693D,VCAM1:NM_001199834:exon9:c.C1893T:p.D631D exonic ENSG00000162692 NA synonymous SNV ENSG00000162692:ENST00000370115:exon7:c.C1482T:p.D494D,ENSG00000162692:ENST00000347652:exon8:c.C1803T:p.D601D,ENSG00000162692:ENST00000294728:exon9:c.C2079T:p.D693D,ENSG00000162692:ENST00000370119:exon9:c.C1893T:p.D631D NA NA 1p21.2 Score=808;Name=V$RSRFC4_01 NA NA NA rs3176878 0.12 0.12 0.107 0.129193 0.1531 0.0208 0.2435 0.1672 0.0838 0.15 0.01 0.21 0.14 0.1577 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.66355 NA NA 0.168488 0.16296 NA 0.094 NA 6.1873786 1033 15 52401933 52401933 A G UTR3 BCL2L10 NM_020396:c.*112T>C NA NA UTR3 ENSG00000137875 ENST00000260442:c.*112T>C NA NA NA NA 15q21.2 NA Name=PAX5-N19,PAX5-C20,NFKB,BCL3,TCF12,EBF,Oct-2,BATF,POU2F2,BCL11A Name=9 NA rs2231297 0.21 0.21 0.198 0.221246 0.1461 0.1895 0.3429 0.2821 0.1626 0.14 0.19 0.32 0.26 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114167 NA NA NA NA NA 0.225 NA 6.1872334 1033 1 165398115 165398115 T C exonic RXRG NA synonymous SNV RXRG:NM_006917:exon2:c.A138G:p.T46T exonic ENSG00000143171 NA synonymous SNV ENSG00000143171:ENST00000359842:exon2:c.A138G:p.T46T Score=470;Name=lod=108 NA 1q23.3 NA NA NA NA rs113471 0.24 0.24 0.232 0.25 0.1531 0.246 0.2896 0.416 0.1012 0.13 0.23 0.25 0.42 0.173 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.458093 1.458093 NA 0.153605 0.347481 NA 0.297 NA 6.1869616 1033 17 39258027 39258027 G A intergenic KRTAP4-8,KRTAP4-9 dist=3652;dist=3614 NA NA exonic ENSG00000241241 NA synonymous SNV ENSG00000241241:ENST00000440582:exon1:c.C435T:p.H145H Score=358;Name=lod=38 NA 17q21.2 Score=926;Name=V$AREB6_01 NA Name=11 NA rs7503699 0.51 0.51 0.543 0.496006 0.667 0.251 0.5043 0.531 0.5194 0.67 0.24 0.55 0.54 0.6466 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.38051 NA NA NA NA NA 0.638 NA 6.1864 1033 1 155033308 155033308 G A exonic ADAM15 NA synonymous SNV ADAM15:NM_001261464:exon19:c.G2307A:p.K769K,ADAM15:NM_003815:exon19:c.G2277A:p.K759K,ADAM15:NM_207194:exon19:c.G2277A:p.K759K,ADAM15:NM_207195:exon19:c.G2277A:p.K759K,ADAM15:NM_207196:exon19:c.G2277A:p.K759K,ADAM15:NM_207197:exon19:c.G2277A:p.K759K exonic ENSG00000143537 NA synonymous SNV ENSG00000143537:ENST00000368410:exon12:c.G1395A:p.K465K,ENSG00000143537:ENST00000368413:exon12:c.G1395A:p.K465K,ENSG00000143537:ENST00000271836:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000355956:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000356955:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000359280:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000449910:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000526491:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000529473:exon19:c.G2277A:p.K759K,ENSG00000143537:ENST00000531455:exon19:c.G2307A:p.K769K Score=452;Name=lod=92 NA 1q22 NA NA NA NA rs11589479 0.09 0.09 0.082 0.0750799 0.1819 0.0089 0.0951 0.0045 0.1145 0.18 NA 0.14 0.01 0.1291 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.348741 1.348741 NA 0.169302 0.032002 NA 0.101 NA 6.1863646 1033 11 36595600 36595600 A G exonic RAG1 NA nonsynonymous SNV RAG1:NM_000448:exon2:c.A746G:p.H249R exonic ENSG00000166349 NA nonsynonymous SNV ENSG00000166349:ENST00000299440:exon2:c.A746G:p.H249R,ENSG00000166349:ENST00000534663:exon8:c.A746G:p.H249R NA NA 11p12 NA NA NA NA rs3740955 0.59 0.59 0.593 0.613419 0.3648 0.756 0.6052 0.7708 0.5153 0.37 0.78 0.55 0.74 0.447 0.78 0.08 T 0.0 B 0.0 B 0.235 N 1.000 P 0.11 N 1.23 T -0.923 T 0.000 T 0.068 -1.056 0.188 -1.98 -0.541 0.169 10.230 -1.055818 NA 0.27 0.33597 0.726612 NA 0.529 NA 6.1855634 1033 6 4716037 4716037 T C intergenic ECI2,CDYL dist=580206;dist=60643 NA NA exonic ENSG00000153046 NA nonsynonymous SNV ENSG00000153046:ENST00000328908:exon2:c.T25C:p.S9P NA NA 6p25.1 NA NA NA NA rs3812178 0.26 0.26 0.247 0.235224 0.2247 0.2679 0.3256 0.3116 0.045 0.22 0.24 0.29 0.3 0.213 0.3 0.35 T 0.0 B 0.0 B . . 1.000 P . . 0.75 T -1.044 T 0.029 T 0.103 -1.14 0.11 3.3 0.300 0.252 3.831 -1.139865 NA 0.32 0.210116 0.281207 ID=COSM150037;OCCURENCE=1(stomach),1(lung) 0.29 NA 6.1855174 1034 1 177001896 177001896 C G exonic ASTN1 NA synonymous SNV ASTN1:NM_004319:exon3:c.G561C:p.P187P,ASTN1:NM_207108:exon3:c.G561C:p.P187P exonic ENSG00000152092 NA synonymous SNV ENSG00000152092:ENST00000361833:exon3:c.G561C:p.P187P,ENSG00000152092:ENST00000367654:exon3:c.G561C:p.P187P,ENSG00000152092:ENST00000367657:exon3:c.G561C:p.P187P,ENSG00000152092:ENST00000424564:exon3:c.G561C:p.P187P Score=546;Name=lod=220 NA 1q25.2 NA NA NA NA rs2076069 0.16 0.16 0.134 0.14996 0.1471 0.2599 0.2118 0.0272 0.1616 0.15 0.24 0.21 0.03 0.1704 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315699 NA NA 0.164884 0.051748 NA 0.116 NA 6.1842826 1034 2 47613870 47613870 T C UTR3 EPCAM NM_002354:c.*118T>C NA NA UTR3 ENSG00000119888 ENST00000405271:c.*118T>C,ENST00000456133:c.*118T>C,ENST00000263735:c.*118T>C NA NA NA NA 2p21 NA Name=BATF Name=8 NA rs1421 0.12 0.12 0.088 0.10004 0.1491 0.1825 0.1455 0.0045 0.0613 0.15 0.17 0.14 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.63432 1.63432 NA NA NA NA 0.08 NA 6.1842334 1034 6 24418786 24418786 T C exonic MRS2 NA synonymous SNV MRS2:NM_020662:exon9:c.T1087C:p.L363L exonic ENSG00000124532 NA synonymous SNV ENSG00000124532:ENST00000535061:exon7:c.T937C:p.L313L,ENSG00000124532:ENST00000543597:exon8:c.T214C:p.L72L,ENSG00000124532:ENST00000378353:exon9:c.T1087C:p.L363L,ENSG00000124532:ENST00000378386:exon9:c.T1087C:p.L363L,ENSG00000124532:ENST00000443868:exon10:c.T1096C:p.L366L Score=579;Name=lod=300 NA 6p22.3 NA NA NA NA rs79527965 0.13 0.13 0.123 0.116214 0.1938 0.1478 0.0965 0.0159 0.1534 0.2 0.16 0.09 0.02 0.1454 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370375 1.370375 NA 0.143488 0.038584 ID=COSM150058;OCCURENCE=1(stomach) 0.094 NA 6.1839786 1034 2 11798481 11798481 A T UTR3 NTSR2 NM_012344:c.*124T>A NA NA UTR3 ENSG00000169006 ENST00000306928:c.*124T>A NA NA NA NA 2p25.1 NA Name=E2F6_(H-50),TAL1_(SC-12984),STAT3,USF-1 Name=9 NA rs6742234 0.21 0.21 0.205 0.20607 0.1501 0.124 0.219 0.4327 0.0327 0.14 0.12 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938742 NA NA NA NA NA 0.239 NA 6.1832334 1034 19 19390185 19390185 G A exonic SUGP1 NA synonymous SNV SUGP1:NM_172231:exon10:c.C1365T:p.Y455Y exonic ENSG00000105705 NA synonymous SNV ENSG00000105705:ENST00000247001:exon10:c.C1365T:p.Y455Y Score=577;Name=lod=295 NA 19p13.11 NA NA NA NA rs11555053 0.15 0.15 0.17 0.149161 0.167 NA 0.1268 0.295 0.1033 0.15 NA 0.14 0.35 0.1584 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.968406 NA NA 0.158488 0.282016 ID=COSM439014;OCCURENCE=1(breast) 0.246 NA 6.1827786 1034 2 33281558 33281558 G A intronic LTBP1 NA NA NA ncRNA_exonic ENSG00000223951 NA NA NA Score=673;Name=lod=725 NA 2p22.3 NA Name=Pol2-4H8,HEY1 NA NA rs72791802 0.07 0.07 0.056 0.0593051 0.1511 0.004 0.0576 0.0061 0.0951 0.15 0.0035 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819726 NA NA NA NA NA 0.029 NA 6.1822333 1034 16 81971403 81971403 T C exonic PLCG2 NA synonymous SNV PLCG2:NM_002661:exon28:c.T3093C:p.N1031N exonic ENSG00000197943 NA synonymous SNV ENSG00000197943:ENST00000359376:exon28:c.T3093C:p.N1031N Score=426;Name=lod=72 NA 16q23.3 NA NA Name=34 NA rs1071644 0.37 0.37 0.361 0.313898 0.504 0.3442 0.3199 0.0764 0.4039 0.49 0.41 0.4 0.1 0.4487 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.395552 1.395552 NA 0.531739 0.151645 NA 0.42 NA 6.1822276 1034 12 15035081 15035081 T C exonic MGP NA nonsynonymous SNV MGP:NM_000900:exon4:c.A304G:p.T102A,MGP:NM_001190839:exon5:c.A379G:p.T127A exonic ENSG00000111341 NA nonsynonymous SNV ENSG00000111341:ENST00000539261:exon4:c.A304G:p.T102A,ENSG00000111341:ENST00000228938:exon5:c.A379G:p.T127A NA NA 12p12.3 NA NA NA NA rs4236 0.35 0.35 0.338 0.385383 0.3777 0.129 0.3991 0.5469 0.4294 0.36 0.12 0.43 0.56 0.38 0.56 1 T 0.0 B 0.0 B 0.329 N 1.000 P 0 N 1.58 T -0.951 T 0.000 T 0.04 -0.8 0.677 0.156 -0.068 -0.553 5.053 -0.799755 NA 1 0.393605 0.522469 ID=COSM147452;OCCURENCE=1(stomach) 0.529 NA 6.1820284 1034 15 101093924 101093924 T A ncRNA_exonic PRKXP1 NA NA NA ncRNA_exonic ENSG00000259205 NA NA NA Score=624;Name=lod=456 NA 15q26.3 NA NA Name=4 NA rs28538762 0.33 0.33 0.343 0.307708 0.4851 0.244 0.2608 0.1959 0.3753 0.5 0.25 0.3 0.2 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232636 NA NA NA NA ID=COSN165068;OCCURENCE=1(breast),1(NS) 0.362 NA 6.1815666 1034 3 9870857 9870857 G A exonic ARPC4-TTLL3,TTLL3 NA synonymous SNV TTLL3:NM_001025930:exon10:c.G1761A:p.Q587Q,ARPC4-TTLL3:NM_001198793:exon11:c.G1515A:p.Q505Q exonic ENSG00000214021,ENSG00000250151 NA synonymous SNV ENSG00000214021:ENST00000383827:exon4:c.G696A:p.Q232Q,ENSG00000214021:ENST00000430793:exon4:c.G696A:p.Q232Q,ENSG00000214021:ENST00000438141:exon4:c.G696A:p.Q232Q,ENSG00000214021:ENST00000455274:exon4:c.G696A:p.Q232Q,ENSG00000214021:ENST00000443148:exon7:c.G1146A:p.Q382Q,ENSG00000214021:ENST00000427853:exon8:c.G696A:p.Q232Q,ENSG00000214021:ENST00000397241:exon10:c.G696A:p.Q232Q,ENSG00000214021:ENST00000426895:exon10:c.G1761A:p.Q587Q,ENSG00000214021:ENST00000547186:exon10:c.G1332A:p.Q444Q,ENSG00000250151:ENST00000397256:exon11:c.G1515A:p.Q505Q NA NA 3p25.3 NA Name=ZNF263 NA NA rs2290303 0.33 0.33 0.335 0.272963 0.5746 0.1577 0.3112 0.1286 0.2495 0.58 0.16 0.35 0.14 0.4057 0.58 . . . . . . . . 0.036 P . . . . -0.914 T 0.000 T . 0.682 7.645 0.73 0.489 0.301 5.643 0.681788 NA NA 0.504884 0.180209 NA 0.413 NA 6.1814826 1034 7 104717517 104717517 C T exonic MLL5 NA synonymous SNV MLL5:NM_018682:exon9:c.C876T:p.Y292Y,MLL5:NM_182931:exon10:c.C876T:p.Y292Y exonic ENSG00000005483 NA synonymous SNV ENSG00000005483:ENST00000478990:exon6:c.C450T:p.Y150Y,ENSG00000005483:ENST00000257745:exon9:c.C876T:p.Y292Y,ENSG00000005483:ENST00000311117:exon10:c.C876T:p.Y292Y,ENSG00000005483:ENST00000334877:exon10:c.C876T:p.Y292Y,ENSG00000005483:ENST00000334884:exon10:c.C876T:p.Y292Y,ENSG00000005483:ENST00000476671:exon10:c.C876T:p.Y292Y Score=625;Name=lod=463 NA 7q22.3 NA NA NA NA rs2240455 0.4 0.4 0.428 0.383187 0.1342 0.6319 0.2435 0.59 0.2025 0.12 0.69 0.25 0.59 0.2282 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089848 NA NA 0.122907 0.522923 NA 0.449 NA 6.1813596 1034 11 1018496 1018496 G T exonic MUC6 NA synonymous SNV MUC6:NM_005961:exon31:c.C4305A:p.T1435T exonic ENSG00000184956 NA synonymous SNV ENSG00000184956:ENST00000421673:exon31:c.C4305A:p.T1435T NA NA 11p15.5 NA NA Name=3 NA rs67341709 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467771 NA NA NA NA NA NA NA 6.1806666 1034 7 1195215 1195215 A C exonic ZFAND2A NA synonymous SNV ZFAND2A:NM_182491:exon4:c.T156G:p.V52V exonic ENSG00000178381 NA synonymous SNV ENSG00000178381:ENST00000316495:exon4:c.T156G:p.V52V,ENSG00000178381:ENST00000397083:exon4:c.T156G:p.V52V,ENSG00000178381:ENST00000401903:exon4:c.T156G:p.V52V Score=420;Name=lod=68 NA 7p22.3 NA NA NA NA rs1133116 0.12 0.12 0.113 0.111222 0.1481 0.0268 0.1816 0.0749 0.1595 0.16 0.03 0.15 0.12 0.1606 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521432 NA NA 0.177558 0.085111 NA 0.181 NA 6.1804086 1034 14 39703324 39703324 A G exonic MIA2 NA synonymous SNV MIA2:NM_054024:exon1:c.A6G:p.A2A exonic ENSG00000150526,ENSG00000258941 NA synonymous SNV ENSG00000150526:ENST00000280082:exon1:c.A6G:p.A2A,ENSG00000258941:ENST00000553728:exon1:c.A6G:p.A2A,ENSG00000150526:ENST00000555143:exon1:c.A6G:p.A2A,ENSG00000150526:ENST00000556784:exon1:c.A6G:p.A2A,ENSG00000150526:ENST00000557148:exon3:c.A6G:p.A2A NA NA 14q21.1 NA Name=ZBTB33 Name=3 NA rs7141840 0.61 0.61 0.602 0.59984 0.4742 0.6548 0.5029 0.8616 0.3875 0.46 0.66 0.56 0.82 0.5268 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823348 NA NA 0.485349 0.820245 NA 0.543 NA 6.1803176 1034 11 13514053 13514053 G T exonic PTH NA synonymous SNV PTH:NM_000315:exon3:c.C247A:p.R83R exonic ENSG00000152266 NA synonymous SNV ENSG00000152266:ENST00000282091:exon3:c.C247A:p.R83R,ENSG00000152266:ENST00000529816:exon3:c.C247A:p.R83R NA NA 11p15.2 NA NA NA NA rs6256 0.13 0.13 0.135 0.151358 0.171 0.121 0.1052 0.0477 0.3354 0.17 0.12 0.12 0.07 0.1611 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447469 NA NA 0.154401 0.063182 NA 0.196 CLINSIG=pathogenic;CLNDBN=Primary_hyperparathyroidism;CLNREVSTAT=single;CLNACC=RCV000014767.24;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0221002:36348003 6.1801656 1034 1 33631069 33631069 C A intronic TRIM62 NA NA NA intronic ENSG00000116525 NA NA NA Score=441;Name=lod=83 NA 1p35.1 NA Name=E2F6_(H-50) Name=5 NA rs2306257 0.19 0.19 0.186 0.1877 0.2505 0.2014 0.183 0.0537 0.2935 0.26 0.2 0.18 0.07 0.3338 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.419929 2.419929 NA 0.235581 0.094233 NA 0.13 NA 6.180119 1034 3 125649403 125649403 C A exonic ALG1L NA synonymous SNV ALG1L:NM_001015050:exon5:c.G345T:p.L115L,ALG1L:NM_001195223:exon6:c.G405T:p.L135L exonic ENSG00000189366 NA synonymous SNV ENSG00000189366:ENST00000340333:exon5:c.G345T:p.L115L Score=363;Name=lod=40 NA 3q21.2 NA NA NA NA rs7615952 0.23 0.23 0.25 0.234026 0.172 0.1071 0.1527 0.4841 0.1483 0.17 0.1 0.18 0.5 0.1582 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449034 NA NA 0.156371 0.393741 NA 0.268 NA 6.1800956 1034 5 176402401 176402401 G A exonic UIMC1 NA synonymous SNV UIMC1:NM_001199298:exon3:c.C228T:p.I76I,UIMC1:NM_016290:exon3:c.C228T:p.I76I,UIMC1:NM_001199297:exon4:c.C228T:p.I76I exonic ENSG00000087206 NA synonymous SNV ENSG00000087206:ENST00000377219:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000377227:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000506128:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000509236:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000510698:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000511320:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000512031:exon3:c.C228T:p.I76I,ENSG00000087206:ENST00000507513:exon4:c.C228T:p.I76I Score=496;Name=lod=138 NA 5q35.2 Score=823;Name=V$HTF_01 NA NA NA rs1700490 0.56 0.56 0.592 0.577077 0.4881 0.4911 0.4366 0.8419 0.499 0.49 0.48 0.41 0.86 0.5089 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075086 NA NA 0.489765 0.763504 NA 0.514 NA 6.1799016 1034 21 47545826 47545826 C T exonic COL6A2 NA synonymous SNV COL6A2:NM_001849:exon26:c.C2097T:p.G699G,COL6A2:NM_058174:exon26:c.C2097T:p.G699G,COL6A2:NM_058175:exon26:c.C2097T:p.G699G exonic ENSG00000142173 NA synonymous SNV ENSG00000142173:ENST00000397763:exon25:c.C2097T:p.G699G,ENSG00000142173:ENST00000409416:exon25:c.C2097T:p.G699G,ENSG00000142173:ENST00000300527:exon26:c.C2097T:p.G699G,ENSG00000142173:ENST00000310645:exon26:c.C2097T:p.G699G,ENSG00000142173:ENST00000357838:exon26:c.C2097T:p.G699G Score=481;Name=lod=120 NA 21q22.3 NA NA NA NA rs13046639 0.44 0.44 0.42 0.39397 0.5109 0.4306 0.6383 0.208 0.3139 0.53 0.41 0.62 0.22 0.4755 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467134 NA NA 0.500465 0.241035 NA 0.297 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079870.2;CLNDSDB=.;CLNDSDBID=. 6.1798016 1034 X 1331495 1331495 G C exonic CRLF2 NA synonymous SNV CRLF2:NM_022148:exon1:c.C33G:p.A11A exonic ENSG00000205755 NA synonymous SNV ENSG00000205755:ENST00000381566:exon1:c.C33G:p.A11A,ENSG00000205755:ENST00000381567:exon1:c.C33G:p.A11A,ENSG00000205755:ENST00000400841:exon1:c.C33G:p.A11A NA NA Xp22.33 NA Name=MEF2A,IRF4_(M-17),PU.1,SP1,CHD2_(N-1250),BATF,EBF1_(C-8),JunD,FOSL2,EBF,c-Jun,Pol2-4H8,PAX5-N19,ZEB1_(SC-25388),TBP NA NA rs140859855 0.17 0.17 0.15739 NA NA NA NA NA NA 0.29 0.06 0.18 0.12 0.2141 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642735 NA NA 0.273243 0.130036 NA 0.21 NA 6.1793236 1034 17 76455218 76455218 G A exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon61:c.C9726T:p.C3242C exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon61:c.C9684T:p.C3228C,ENSG00000187775:ENST00000585328:exon61:c.C9711T:p.C3237C Score=522;Name=lod=176 NA 17q25.3 NA NA NA NA rs2289754 0.19 0.19 0.15 0.220647 0.1382 0.249 0.3458 0.1392 0.2975 0.13 0.24 0.3 0.13 0.1949 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.46375 1.46375 NA 0.154302 0.140263 NA 0.116 NA 6.1792646 1034 21 43327117 43327117 C T exonic C2CD2 NA synonymous SNV C2CD2:NM_199050:exon9:c.G837A:p.A279A,C2CD2:NM_015500:exon10:c.G1302A:p.A434A exonic ENSG00000157617 NA synonymous SNV ENSG00000157617:ENST00000329623:exon9:c.G837A:p.A279A,ENSG00000157617:ENST00000380486:exon10:c.G1302A:p.A434A NA NA 21q22.3 Score=904;Name=V$NFKAPPAB50_01 NA NA NA rs2277795 0.28 0.28 0.328 0.300919 0.1471 0.2728 0.1527 0.5545 0.2505 0.15 0.28 0.16 0.59 0.1919 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42397 NA NA 0.148605 0.498184 NA 0.319 NA 6.1790616 1034 12 49723963 49723963 A G exonic TROAP NA synonymous SNV TROAP:NM_005480:exon13:c.A1335G:p.E445E exonic ENSG00000135451 NA synonymous SNV ENSG00000135451:ENST00000547923:exon7:c.A459G:p.E153E,ENSG00000135451:ENST00000257909:exon13:c.A1335G:p.E445E,ENSG00000135451:ENST00000551245:exon13:c.A1335G:p.E445E Score=309;Name=lod=24 NA 12q13.12 NA NA NA NA rs4243545 0.18 0.18 0.192 0.194089 0.1531 0.0407 0.1138 0.4123 0.1564 0.16 0.05 0.14 0.38 0.1718 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589663 NA NA 0.163797 0.38266 ID=COSM147501;OCCURENCE=1(stomach) 0.225 NA 6.1779696 1034 20 42281834 42281834 A G intergenic IFT52,MYBL2 dist=5972;dist=13875 NA NA ncRNA_exonic ENSG00000215467 NA NA NA Score=645;Name=lod=560 NA 20q13.12 NA Name=HNF4A_(H-171),Sin3Ak-20,HDAC2_(SC-6296),HNF4G_(SC-6558),p300,RXRA,CEBPB,TCF4 Name=7 NA rs285194 0.77 0.77 0.722 0.763978 0.8221 0.7937 0.8012 0.6664 0.7791 0.82 0.77 0.81 0.66 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630064 NA NA NA NA NA 0.761 NA 6.1779 1034 1 53544578 53544578 T C exonic PODN NA synonymous SNV PODN:NM_001199082:exon4:c.T1114C:p.L372L,PODN:NM_153703:exon8:c.T1540C:p.L514L,PODN:NM_001199081:exon9:c.T1483C:p.L495L,PODN:NM_001199080:exon10:c.T1483C:p.L495L exonic ENSG00000174348 NA synonymous SNV ENSG00000174348:ENST00000395871:exon4:c.T1114C:p.L372L,ENSG00000174348:ENST00000312553:exon8:c.T1540C:p.L514L,ENSG00000174348:ENST00000371500:exon10:c.T1483C:p.L495L Score=309;Name=lod=24 NA 1p32.3 NA NA NA NA rs11206088 0.13 0.13 0.149 0.139577 0.165 0.0367 0.0865 0.211 0.1605 0.16 0.03 0.1 0.23 0.1722 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000669 NA NA 0.151688 0.168937 NA 0.116 NA 6.1777786 1034 9 104433347 104433347 G A exonic GRIN3A NA synonymous SNV GRIN3A:NM_133445:exon3:c.C1347T:p.I449I exonic ENSG00000198785 NA synonymous SNV ENSG00000198785:ENST00000361820:exon3:c.C1347T:p.I449I Score=667;Name=lod=685 NA 9q31.1 NA NA NA NA rs13284303 0.14 0.14 0.11 0.122804 0.167 0.1716 0.1931 0.0068 0.1339 0.16 0.16 0.22 0.01 0.1538 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472594 NA NA 0.16907 0.034725 NA 0.152 NA 6.1767966 1034 16 31580272 31580272 C T ncRNA_exonic YBX3P1 NA NA NA ncRNA_exonic ENSG00000261614 NA NA NA NA NA 16p11.2 NA Name=CTCF,Rad21 Name=6 NA rs4889673 0.3 0.3 0.303 0.299321 0.4901 0.1538 0.3343 0.2027 0.3589 0.47 0.14 0.35 0.2 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336995 NA NA NA NA NA 0.261 NA 6.1765666 1034 21 33869440 33869440 A G intronic EVA1C NA NA NA ncRNA_exonic ENSG00000229007 NA NA NA Score=708;Name=lod=1006 NA 21q22.11 NA Name=GATA3_(SC-268) NA NA rs2833854 0.09 0.09 0.093 0.112021 0.1571 0.0169 0.0764 0.1256 0.1708 0.15 0.02 0.08 0.09 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294645 NA NA NA NA NA 0.239 NA 6.1762333 1034 15 40330518 40330518 T G exonic SRP14 NA synonymous SNV SRP14:NM_003134:exon3:c.A175C:p.R59R exonic ENSG00000140319 NA synonymous SNV ENSG00000140319:ENST00000267884:exon3:c.A175C:p.R59R,ENSG00000140319:ENST00000559081:exon3:c.A175C:p.R59R Score=512;Name=lod=161 NA 15q15.1 NA NA NA NA rs1059395 0.1 0.1 0.1 0.0976438 0.175 0.0248 0.1023 0.0953 0.093 0.17 0.02 0.11 0.11 0.1377 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.964589 1.964589 NA 0.177964 0.113217 NA 0.203 NA 6.1760026 1034 10 53458998 53458998 A G exonic CSTF2T NA synonymous SNV CSTF2T:NM_015235:exon1:c.T312C:p.L104L exonic ENSG00000177613 NA synonymous SNV ENSG00000177613:ENST00000331173:exon1:c.T312C:p.L104L Score=559;Name=lod=250 NA 10q21.1 NA NA NA NA rs2292828 0.29 0.29 0.297 0.315695 0.1571 0.2123 0.1455 0.6831 0.2096 0.15 0.24 0.15 0.66 0.1938 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481003 NA NA 0.14 0.565819 ID=COSM146939;OCCURENCE=1(stomach) 0.362 NA 6.1757666 1034 9 104449294 104449294 G A exonic GRIN3A NA synonymous SNV GRIN3A:NM_133445:exon2:c.C888T:p.N296N exonic ENSG00000198785 NA synonymous SNV ENSG00000198785:ENST00000361820:exon2:c.C888T:p.N296N Score=420;Name=lod=68 NA 9q31.1 NA NA NA NA rs33945236 0.14 0.14 0.105 0.122604 0.167 0.1716 0.1902 0.0068 0.135 0.16 0.16 0.21 0.01 0.1546 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379033 NA NA 0.169419 0.035179 ID=COSM1459004;OCCURENCE=1(large_intestine) 0.152 NA 6.1756476 1034 5 134914233 134914233 C T intronic CXCL14 NA NA NA ncRNA_intronic ENSG00000250167 NA NA NA NA NA 5q31.1 Score=823;Name=V$HNF4_01 Name=ZNF274 NA NA rs11950696 0.1 0.1 0.101 0.0954473 0.0527 NA 0.0677 0.2784 0.0102 0.05 NA 0.07 0.33 0.055 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.164131 NA NA 0.05 0.229687 NA 0.159 NA 6.1756333 1035 5 176378574 176378574 G T exonic UIMC1 NA synonymous SNV UIMC1:NM_001199298:exon9:c.C1344A:p.T448T,UIMC1:NM_016290:exon9:c.C1344A:p.T448T,UIMC1:NM_001199297:exon10:c.C1344A:p.T448T exonic ENSG00000087206 NA synonymous SNV ENSG00000087206:ENST00000510698:exon7:c.C501A:p.T167T,ENSG00000087206:ENST00000377219:exon9:c.C1344A:p.T448T,ENSG00000087206:ENST00000377227:exon9:c.C1344A:p.T448T,ENSG00000087206:ENST00000506128:exon9:c.C846A:p.T282T,ENSG00000087206:ENST00000511320:exon9:c.C1344A:p.T448T Score=410;Name=lod=62 Name=Menopause (age at onset),Menarche and menopause (age at onset) 5q35.2 NA NA NA NA rs365132 0.57 0.57 0.585 0.588458 0.4881 0.4911 0.4409 0.8828 0.499 0.49 0.48 0.41 0.89 0.5123 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443537 NA NA 0.491277 0.796094 NA 0.536 NA 6.1749896 1035 10 101090428 101090428 T G exonic CNNM1 NA synonymous SNV CNNM1:NM_020348:exon1:c.T1284G:p.V428V exonic ENSG00000119946 NA synonymous SNV ENSG00000119946:ENST00000356713:exon1:c.T1284G:p.V428V,ENSG00000119946:ENST00000370534:exon1:c.T189G:p.V63V,ENSG00000119946:ENST00000370528:exon3:c.T1071G:p.V357V,ENSG00000119946:ENST00000446890:exon3:c.T1071G:p.V357V Score=712;Name=lod=1047 NA 10q24.2 Score=738;Name=V$HOX13_01 Name=GATA-2,ZNF263 NA NA rs2862600 0.85 0.85 0.852 0.869808 0.8201 0.872 0.7435 0.9539 0.8947 0.82 0.86 0.76 0.95 0.8388 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352252 NA NA 0.832791 0.937585 NA 0.848 NA 6.1749756 1035 22 50728062 50728062 T C exonic PLXNB2 NA nonsynonymous SNV PLXNB2:NM_012401:exon3:c.A952G:p.K318E exonic ENSG00000196576 NA nonsynonymous SNV ENSG00000196576:ENST00000359337:exon3:c.A952G:p.K318E,ENSG00000196576:ENST00000432455:exon3:c.A952G:p.K318E,ENSG00000196576:ENST00000449103:exon3:c.A952G:p.K318E NA NA 22q13.33 NA NA NA NA rs28379706 0.48 0.48 0.487 0.454073 0.3996 0.5734 0.2666 0.6982 0.1902 0.4 0.56 0.27 0.66 0.3817 0.66 1 T 0.0 B 0.002 B 0.985 N 1.000 P -0.805 N 3.69 T -0.981 T 0.000 T 0.013 -2.195 0.005 -1.27 -0.271 -0.279 6.759 -2.194844 NA 1 0.377404 0.610969 NA 0.399 NA 6.1746294 1035 18 9735590 9735590 C G intronic RAB31 NA NA NA ncRNA_exonic ENSG00000266891 NA NA NA Score=443;Name=lod=84 NA 18p11.22 NA NA Name=7 NA rs12955768 0.12 0.12 0.115 0.132388 0.159 0.0625 0.085 0.1475 0.1902 0.16 0.07 0.08 0.14 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822486 NA NA NA NA NA 0.167 NA 6.1743333 1035 3 10138069 10138069 T G exonic FANCD2 NA synonymous SNV FANCD2:NM_001018115:exon42:c.T4098G:p.L1366L,FANCD2:NM_033084:exon42:c.T4098G:p.L1366L exonic ENSG00000144554 NA synonymous SNV ENSG00000144554:ENST00000287647:exon42:c.T4098G:p.L1366L,ENSG00000144554:ENST00000383807:exon42:c.T4098G:p.L1366L,ENSG00000144554:ENST00000419585:exon42:c.T4098G:p.L1366L Score=588;Name=lod=326 NA 3p25.3 NA NA NA NA rs2272125 0.23 0.23 0.243 0.242212 0.1412 0.0675 0.196 0.5174 0.1871 0.15 0.1 0.2 0.52 0.1868 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.9622 NA NA 0.164651 0.471403 NA 0.37 NA 6.1740156 1035 14 21960969 21960969 G A exonic TOX4 NA synonymous SNV TOX4:NM_014828:exon7:c.G1194A:p.R398R exonic ENSG00000092203 NA synonymous SNV ENSG00000092203:ENST00000448790:exon6:c.G1125A:p.R375R,ENSG00000092203:ENST00000262709:exon7:c.G1194A:p.R398R,ENSG00000092203:ENST00000405508:exon8:c.G1194A:p.R398R Score=678;Name=lod=759 NA 14q11.2 Score=887;Name=V$AP2_Q6 NA NA NA rs7617 0.5 0.5 0.499 0.495208 0.502 0.6488 0.3746 0.4274 0.5072 0.48 0.66 0.4 0.4 0.4887 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.797577 NA NA 0.502558 0.467544 NA 0.529 NA 6.1734086 1035 20 30193110 30193110 T C UTR5 ID1 NM_002165:c.-81T>C,NM_181353:c.-81T>C NA NA UTR5 ENSG00000125968 ENST00000376112:c.-81T>C,ENST00000376105:c.-81T>C NA NA NA NA 20q11.21 NA Name=USF1_(SC-8983),Pol2(phosphoS2),NELFe,Pol2,SP1,Mxi1_(bHLH),NF-YA,TAF1,GTF2F1_(RAP-74),RXRA,CHD2_(N-1250),p300,NF-YB,HNF4G_(SC-6558),FOXA1_(SC-101058),Max,HDAC2_(SC-6296),Pol2-4H8,c-Fos,Sin3Ak-20,FOSL2,Pol2(b),IRF1,TBP,USF-1,TCF12,GTF2B,p300_(N-15),BCL3,HEY1 Name=148 NA rs6060263 0.22 0.22 0.231 0.22484 0.16 NA 0.1686 0.6142 0.0368 0.17 NA 0.17 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738958 NA NA NA NA NA 0.225 NA 6.1733334 1035 22 46652303 46652303 A T UTR3 PKDREJ NM_006071:c.*155T>A NA NA UTR3 ENSG00000130943 ENST00000253255:c.*155T>A NA NA NA NA 22q13.31 NA Name=eGFP-JunB,eGFP-FOS Name=34 NA rs6007732 0.21 0.21 0.243 0.240216 0.16 0.001 0.1297 0.6611 0.0787 0.15 NA 0.15 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657853 NA NA NA NA NA 0.29 NA 6.1733334 1035 22 46652372 46652372 G A UTR3 PKDREJ NM_006071:c.*86C>T NA NA UTR3 ENSG00000130943 ENST00000253255:c.*86C>T NA NA NA NA 22q13.31 NA Name=eGFP-JunB,eGFP-FOS,FOSL1_(SC-183) Name=34 NA rs6008361 0.21 0.21 0.252 0.240415 0.16 0.002 0.1297 0.6611 0.0787 0.15 NA 0.15 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567986 NA NA NA NA NA 0.29 NA 6.1733334 1035 2 112754880 112754880 G A intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA NA NA NA rs3811633 0.18 0.18 0.18 0.190096 0.2873 0.1696 0.1888 0.1029 0.2301 0.25 0.12 0.22 0.11 0.2384 0.3 0.07 T . . . . . . 1.000 P . . . . -1.024 T 0.000 T . -1.431 0.021 -6.46 -1.829 0.130 6.208 -1.430899 NA 0.57 0.301047 0.148888 NA 0.217 NA 6.173253 1035 17 67178316 67178316 A G exonic ABCA10 NA nonsynonymous SNV ABCA10:NM_080282:exon23:c.T2747C:p.M916T exonic ENSG00000154263 NA nonsynonymous SNV ENSG00000154263:ENST00000523419:exon20:c.T2747C:p.M916T,ENSG00000154263:ENST00000269081:exon23:c.T2747C:p.M916T NA NA 17q24.3 NA NA NA NA rs4968849 0.67 0.67 0.66 0.711262 0.7326 0.4742 0.7882 0.8533 0.6871 0.73 0.43 0.75 0.82 0.7118 0.84 0.96 T 0.001 B 0.0 B 0.502 N 1.000 P -1.405 N -1.59 D -0.971 T 0.000 T 0.05 -2.296 0.004 0.662 -0.189 0.007 7.444 -2.29605 NA 1 0.71593 0.83704 NA 0.457 NA 6.1730034 1035 12 109490601 109490601 C T ncRNA_intronic USP30-AS1 NA NA NA ncRNA_intronic ENSG00000256262 NA NA NA NA NA 12q24.11 NA Name=GATA-1 Name=72 NA rs2304267 0.18 0.18 0.182 0.179513 0.164 0.1359 0.1254 0.2133 0.2331 0.17 0.15 0.14 0.27 0.1949 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944122 NA NA 0.135854 0.155034 NA 0.181 NA 6.1719126 1035 17 4722785 4722785 G A exonic PLD2 NA synonymous SNV PLD2:NM_001243108:exon23:c.G2370A:p.L790L,PLD2:NM_002663:exon23:c.G2370A:p.L790L exonic ENSG00000129219 NA synonymous SNV ENSG00000129219:ENST00000576983:exon7:c.G567A:p.L189L,ENSG00000129219:ENST00000263088:exon23:c.G2370A:p.L790L,ENSG00000129219:ENST00000572940:exon23:c.G2370A:p.L790L Score=556;Name=lod=243 NA 17p13.2 NA NA NA NA rs1052751 0.12 0.12 0.114 0.120807 0.1829 0.0427 0.1715 0.1293 0.09 0.17 0.03 0.16 0.14 0.1426 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103456 NA NA 0.169651 0.115751 NA 0.268 NA 6.1715156 1035 9 21187311 21187311 C T exonic IFNA4 NA nonsynonymous SNV IFNA4:NM_021068:exon1:c.G220A:p.A74T exonic ENSG00000236637 NA nonsynonymous SNV ENSG00000236637:ENST00000421715:exon1:c.G220A:p.A74T NA NA 9p21.3 NA NA NA NA rs1062571 0.65 0.65 0.65 0.679912 0.5517 0.8611 0.6326 0.6142 0.7474 0.53 0.85 0.65 0.6 0.6106 0.85 0.13 T 0.001 B 0.041 B 0.032 N 1.000 P 1.485 L 3.76 T -1.105 T 0.000 T 0.14 1.102 9.495 1.06 0.132 0.193 6.490 1.101676 NA 0.15 NA NA NA 0.638 NA 6.1710334 1035 1 243579112 243579112 G A exonic SDCCAG8 NA synonymous SNV SDCCAG8:NM_006642:exon14:c.G1725A:p.E575E exonic ENSG00000054282 NA synonymous SNV ENSG00000054282:ENST00000343783:exon11:c.G1290A:p.E430E,ENSG00000054282:ENST00000355875:exon13:c.G1596A:p.E532E,ENSG00000054282:ENST00000366541:exon14:c.G1725A:p.E575E Score=712;Name=lod=1046 NA 1q43 NA NA Name=2 NA rs10927011 0.5 0.5 0.459 0.439497 0.498 0.7847 0.5403 0.0938 0.4192 0.5 0.78 0.56 0.13 0.4889 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401454 NA NA 0.508953 0.164321 NA 0.435 NA 6.1708136 1035 9 37434371 37434371 G A intronic GRHPR NA NA NA ncRNA_exonic ENSG00000236156 NA NA NA Score=646;Name=lod=561 NA 9p13.2 NA Name=ZNF263 NA NA rs17885933 0.08 0.08 0.078 0.0569089 0.163 0.003 0.085 0.0189 0.0348 0.16 0.0035 0.1 0.03 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.044428 NA NA NA NA NA 0.21 NA 6.1703333 1035 18 9888069 9888069 A G exonic TXNDC2 NA synonymous SNV TXNDC2:NM_001098529:exon2:c.A1593G:p.E531E,TXNDC2:NM_032243:exon2:c.A1392G:p.E464E exonic ENSG00000168454 NA synonymous SNV ENSG00000168454:ENST00000306084:exon2:c.A1593G:p.E531E,ENSG00000168454:ENST00000357775:exon2:c.A1392G:p.E464E Score=441;Name=lod=83 NA 18p11.22 Score=874;Name=V$TATA_01 NA NA NA rs2240905 0.58 0.58 0.573 0.554712 0.4791 0.8175 0.5778 0.472 0.4571 0.49 0.81 0.54 0.49 0.5268 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992124 NA NA 0.490698 0.488879 ID=COSM1389984,COSM1389983;OCCURENCE=1(large_intestine) 0.464 NA 6.1700686 1035 8 144654693 144654693 G C exonic MROH6 NA synonymous SNV MROH6:NM_001100878:exon1:c.C192G:p.P64P exonic ENSG00000204839 NA synonymous SNV ENSG00000204839:ENST00000398882:exon1:c.C192G:p.P64P,ENSG00000204839:ENST00000529971:exon1:c.C192G:p.P64P NA NA 8q24.3 NA Name=Pol2 Name=5 NA rs4873804 0.37 0.37 0.315 0.31889 0.5239 0.3562 0.415 0.1067 0.2883 0.53 0.32 0.49 0.12 0.449 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153226 NA NA 0.524234 0.164145 ID=COSM454148,COSM454149;OCCURENCE=1(breast) 0.297 NA 6.1695326 1035 20 36662255 36662255 C T UTR5 RPRD1B NM_021215:c.-95C>T NA NA UTR5 ENSG00000101413 ENST00000373433:c.-95C>T,ENST00000462548:c.-95C>T,ENST00000495457:c.-95C>T NA NA NA NA 20q11.23 NA Name=CHD2_(N-1250),HMGN3,E2F6_(H-50),TAF1,YY1_(C-20),TR4,Pol2,c-Myc,NFKB,USF-1,Sin3Ak-20,HA-E2F1,YY1 Name=15 NA rs881556 0.21 0.21 0.185 0.254193 0.164 0.2163 0.1297 0.3744 0.3119 0.17 0.17 0.15 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802228 NA NA NA NA NA 0.145 NA 6.1693334 1035 17 21215483 21215483 C T exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon10:c.C717T:p.Y239Y,MAP2K3:NM_145109:exon10:c.C804T:p.Y268Y exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000527123:exon1:c.C30T:p.Y10Y,ENSG00000034152:ENST00000342679:exon10:c.C804T:p.Y268Y,ENSG00000034152:ENST00000361818:exon10:c.C717T:p.Y239Y,ENSG00000034152:ENST00000316920:exon11:c.C717T:p.Y239Y NA NA 17p11.2 NA NA Name=4 NA rs55935757 0.5 0.5 0.54 0.00798722 0.004 0.0357 NA NA NA 0.5 0.5 0.5 0.5 0.4935 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125627 NA NA NA NA NA 0.391 NA 6.1691666 1035 14 107183367 107183367 C T intergenic LINC00221,NONE dist=231838;dist=NONE NA NA downstream ENSG00000254056 NA NA NA Score=371;Name=lod=43 NA 14q32.33 NA Name=CTCF_(SC-5916),USF-1,PU.1,CTCFL_(SC-98982),Znf143_(16618-1-AP),CTCF,ELF1_(SC-631) Name=24 NA rs3213599 NA NA 0.559 0.548522 0.331 0.4554 0.4107 0.7708 0.6656 NA NA NA NA NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.258189 NA NA NA NA NA 0.486 NA 6.169 1035 20 20033380 20033380 A G exonic CRNKL1 NA synonymous SNV CRNKL1:NM_016652:exon2:c.T90C:p.S30S exonic ENSG00000101343 NA synonymous SNV ENSG00000101343:ENST00000377340:exon2:c.T90C:p.S30S NA NA 20p11.23 NA Name=CEBPB,GABP,Znf143_(16618-1-AP),YY1_(C-20),E2F6,SIX5,Sin3Ak-20,HA-E2F1,KAP1,c-Fos Name=148 NA rs3817995 0.54 0.54 0.518 0.51897 0.4871 0.7024 0.549 0.4425 0.4448 0.49 0.7 0.52 0.44 0.5405 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868842 NA NA 0.470127 0.42461 NA 0.529 NA 6.1689396 1035 17 21318663 21318663 G A exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.G9A:p.A3A,KCNJ12:NM_021012:exon3:c.G9A:p.A3A exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G9A:p.A3A,ENSG00000184185:ENST00000583088:exon3:c.G9A:p.A3A NA NA 17p11.2 Score=791;Name=V$SEF1_C NA NA NA rs72846666 0.5 0.5 0.41 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4979 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224598 NA NA NA NA NA 0.065 NA 6.1687666 1035 11 72289291 72289291 T C exonic PDE2A NA synonymous SNV PDE2A:NM_001143839:exon29:c.A2580G:p.A860A,PDE2A:NM_001243784:exon30:c.A2538G:p.A846A,PDE2A:NM_002599:exon30:c.A2601G:p.A867A,PDE2A:NM_001146209:exon31:c.A2574G:p.A858A exonic ENSG00000186642 NA synonymous SNV ENSG00000186642:ENST00000376450:exon20:c.A1833G:p.A611A,ENSG00000186642:ENST00000418754:exon26:c.A2256G:p.A752A,ENSG00000186642:ENST00000544570:exon29:c.A2580G:p.A860A,ENSG00000186642:ENST00000334456:exon30:c.A2601G:p.A867A,ENSG00000186642:ENST00000444035:exon30:c.A2574G:p.A858A,ENSG00000186642:ENST00000540345:exon31:c.A2574G:p.A858A Score=603;Name=lod=378 NA 11q13.4 Score=877;Name=V$OCT1_06 NA NA NA rs1135029 0.32 0.32 0.311 0.298323 0.5298 0.245 0.3213 0.0885 0.3824 0.52 0.22 0.38 0.09 0.4322 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.391743 1.391743 NA 0.536222 0.175682 NA 0.326 NA 6.1684446 1035 18 56247567 56247567 A G exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon4:c.T441C:p.Y147Y exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon4:c.T441C:p.Y147Y NA NA 18q21.32 NA Name=SRF,USF-1 Name=47 NA rs9956630 0.48 0.48 0.458 0.482827 0.5 0.6022 0.4755 0.3306 0.5532 0.5 0.63 0.49 0.29 0.5003 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776055 NA NA 0.497996 0.356206 NA 0.377 NA 6.1683706 1035 11 124789755 124789755 T C exonic HEPN1 NA nonsynonymous SNV HEPN1:NM_001037558:exon1:c.T109C:p.W37R exonic ENSG00000221932 NA nonsynonymous SNV ENSG00000221932:ENST00000408930:exon1:c.T109C:p.W37R NA NA 11q24.2 NA NA NA NA rs3802904 0.79 0.79 0.8 0.798922 0.7276 0.9236 0.6455 0.8775 0.7464 0.72 0.92 0.63 0.86 0.7371 0.92 0 D 0.0 B 0.0 B . . 1.000 P . . 0.43 T -1.026 T 0.000 T 0.076 -0.164 3.197 0.858 -0.364 -0.380 9.300 -0.164479 NA NA 0.700265 0.869499 NA 0.826 NA 6.1683684 1035 2 232573292 232573292 T C UTR5 PTMA NM_001099285:c.-125T>C,NM_002823:c.-125T>C NA NA UTR5 ENSG00000187514 ENST00000409115:c.-125T>C,ENST00000341369:c.-125T>C,ENST00000409683:c.-125T>C NA NA Score=325;Name=lod=28 NA 2q37.1 NA Name=TAF7_(SQ-8),HA-E2F1,YY1_(C-20),Sin3Ak-20,Pol2-4H8,Pol2,Egr-1,Pol2(phosphoS2),YY1,POU2F2,TAF1,Pol2(b),TBP,GTF2F1_(RAP-74),GTF2B,Oct-2,HEY1,NFKB NA NA rs12415 0.13 0.13 0.114 0.122005 0.165 0.1706 0.1311 0.0446 0.1258 0.18 0.16 0.12 0.04 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.774065 1.774065 NA NA NA NA 0.058 NA 6.1683334 1035 2 232573301 232573301 C T UTR5 PTMA NM_001099285:c.-116C>T,NM_002823:c.-116C>T NA NA UTR5 ENSG00000187514 ENST00000409115:c.-116C>T,ENST00000341369:c.-116C>T,ENST00000409683:c.-116C>T NA NA Score=325;Name=lod=28 NA 2q37.1 NA Name=Pol2-4H8,YY1_(C-20),HA-E2F1,Sin3Ak-20,TAF7_(SQ-8),Pol2(phosphoS2),YY1,Egr-1,Pol2,POU2F2,TAF1,Pol2(b),GTF2F1_(RAP-74),TBP,GTF2B,Oct-2,HEY1,NFKB NA NA rs8868 0.13 0.13 0.091 0.122005 0.165 0.1706 0.1311 0.0446 0.1258 0.18 0.16 0.12 0.04 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.620731 1.620731 NA NA NA NA 0.043 NA 6.1683334 1035 11 61511133 61511133 G A exonic DAGLA NA synonymous SNV DAGLA:NM_006133:exon20:c.G2301A:p.A767A exonic ENSG00000134780 NA synonymous SNV ENSG00000134780:ENST00000257215:exon20:c.G2301A:p.A767A NA NA 11q12.2 Score=771;Name=V$NRSF_01 NA NA NA rs3741251 0.15 0.15 0.097 0.180112 0.163 0.1478 0.2176 0.0772 0.3436 0.18 0.13 0.23 0.06 0.1955 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.291818 NA NA 0.139936 0.075393 NA 0.094 NA 6.1682306 1035 6 136599404 136599404 T C exonic BCLAF1 NA synonymous SNV BCLAF1:NM_001077440:exon4:c.A609G:p.S203S,BCLAF1:NM_001077441:exon4:c.A615G:p.S205S,BCLAF1:NM_014739:exon4:c.A615G:p.S205S exonic ENSG00000029363 NA synonymous SNV ENSG00000029363:ENST00000392348:exon2:c.A609G:p.S203S,ENSG00000029363:ENST00000353331:exon4:c.A609G:p.S203S,ENSG00000029363:ENST00000527536:exon4:c.A615G:p.S205S,ENSG00000029363:ENST00000527613:exon4:c.A615G:p.S205S,ENSG00000029363:ENST00000527759:exon4:c.A609G:p.S203S,ENSG00000029363:ENST00000529826:exon4:c.A615G:p.S205S,ENSG00000029363:ENST00000530429:exon4:c.A609G:p.S203S,ENSG00000029363:ENST00000530767:exon4:c.A615G:p.S205S,ENSG00000029363:ENST00000531224:exon4:c.A615G:p.S205S,ENSG00000029363:ENST00000532384:exon4:c.A615G:p.S205S,ENSG00000029363:ENST00000534269:exon4:c.A609G:p.S203S Score=810;Name=lod=2601 NA 6q23.3 NA NA NA NA rs6919254 0.53 0.53 0.561 NA NA NA NA NA NA 0.53 0.52 0.56 0.53 0.4987 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787702 NA NA NA NA NA 0.471 NA 6.1679666 1035 10 47133375 47133375 C T ncRNA_exonic HNRNPA1P33 NA NA NA ncRNA_exonic ENSG00000213412 NA NA NA Score=669;Name=lod=699 NA 10q11.22 NA NA Name=4 NA rs4979736 NA NA NA 0.511781 0.499 0.505 0.5014 0.5424 0.498 NA NA NA NA NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581686 NA NA NA NA NA 0.507 NA 6.1676666 1035 6 31323296 31323296 A G exonic HLA-B NA synonymous SNV HLA-B:NM_005514:exon4:c.T693C:p.G231G exonic ENSG00000234745 NA synonymous SNV ENSG00000234745:ENST00000434333:exon3:c.T726C:p.G242G,ENSG00000234745:ENST00000412585:exon4:c.T693C:p.G231G Score=409;Name=lod=61 NA 6p21.33 NA Name=Pol2,Pol2-4H8 Name=4 NA rs1050747 0.82 0.82 0.842 0.877196 0.836 0.8284 0.889 0.9107 0.9162 0.81 0.78 0.86 0.87 0.8489 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.14284 NA NA 0.814289 0.879029 NA 0.855 NA 6.1674776 1035 6 136590712 136590712 C T exonic BCLAF1 NA synonymous SNV BCLAF1:NM_001077440:exon9:c.G2076A:p.R692R,BCLAF1:NM_001077441:exon9:c.G1563A:p.R521R,BCLAF1:NM_014739:exon9:c.G2082A:p.R694R exonic ENSG00000029363 NA synonymous SNV ENSG00000029363:ENST00000392348:exon7:c.G2076A:p.R692R,ENSG00000029363:ENST00000353331:exon9:c.G2076A:p.R692R,ENSG00000029363:ENST00000527536:exon9:c.G2082A:p.R694R,ENSG00000029363:ENST00000527613:exon9:c.G2082A:p.R694R,ENSG00000029363:ENST00000527759:exon9:c.G2076A:p.R692R,ENSG00000029363:ENST00000529826:exon9:c.G2079A:p.R693R,ENSG00000029363:ENST00000530429:exon9:c.G2076A:p.R692R,ENSG00000029363:ENST00000530767:exon9:c.G1563A:p.R521R,ENSG00000029363:ENST00000531224:exon9:c.G2082A:p.R694R,ENSG00000029363:ENST00000532384:exon9:c.G2082A:p.R694R Score=825;Name=lod=3015 NA 6q23.3 NA NA NA NA rs62431288 NA NA 0.37 NA NA NA NA NA NA NA NA NA NA 0.4992 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111288 NA NA NA NA NA NA NA 6.1674666 1035 7 66463938 66463938 G A exonic TYW1 NA synonymous SNV TYW1:NM_018264:exon3:c.G270A:p.A90A exonic ENSG00000198874 NA synonymous SNV ENSG00000198874:ENST00000359626:exon3:c.G270A:p.A90A,ENSG00000198874:ENST00000361660:exon3:c.G270A:p.A90A,ENSG00000198874:ENST00000442959:exon3:c.G270A:p.A90A Score=381;Name=lod=47 NA 7q11.21 NA NA NA NA rs11547292 0.2 0.2 0.161 0.174321 0.1769 0.2401 0.353 0.0575 0.135 0.18 0.27 0.34 0.06 0.1707 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749074 NA NA 0.151628 0.078983 NA 0.123 NA 6.1674386 1035 1 151820845 151820845 C T intronic THEM5 NA NA NA ncRNA_intronic ENSG00000234614 NA NA NA NA NA 1q21.3 NA Name=p300,GATA-2 Name=35 NA rs60166269 0.17 0.17 0.18 0.192093 0.166 0.3185 0.1239 0.0166 0.3742 0.16 0.34 0.14 0.02 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31957 NA NA NA NA NA 0.188 NA 6.1673333 1035 16 28602991 28602991 A G exonic CCDC101 NA synonymous SNV CCDC101:NM_138414:exon10:c.A846G:p.R282R exonic ENSG00000176476 NA synonymous SNV ENSG00000176476:ENST00000317058:exon10:c.A846G:p.R282R Score=637;Name=lod=517 NA 16p11.2 NA NA NA NA rs11401 0.16 0.16 0.137 0.174121 0.1571 0.2212 0.2017 0.1619 0.1401 0.13 0.17 0.22 0.16 0.1682 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317281 1.317281 NA 0.17407 0.169777 NA 0.13 NA 6.1672966 1035 1 153410822 153410822 C A exonic S100A7L2 NA nonsynonymous SNV S100A7L2:NM_001045479:exon2:c.G17T:p.G6V exonic ENSG00000197364 NA nonsynonymous SNV ENSG00000197364:ENST00000368725:exon2:c.G17T:p.G6V NA NA 1q21.3 NA NA NA NA rs10888561 0.63 0.63 0.586 0.614217 0.7376 0.6042 0.7061 0.5 0.5869 0.75 0.54 0.73 0.49 0.6923 0.75 0.02 D . . . . . . 0.999 P . . 2.69 T -0.968 T 0.013 T 0.029 1.064 9.346 -1.48 -0.390 -0.069 2.972 1.06422 NA 0.05 0.736163 0.533137 NA 0.594 NA 6.1672704 1035 6 57467084 57467084 A G exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA nonsynonymous SNV ENSG00000146143:ENST00000607273:exon11:c.A1025G:p.D342G Score=531;Name=lod=191 NA 6p11.2 NA NA NA NA rs9885913 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4994 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.676994 2.676994 NA NA NA ID=COSM150112;OCCURENCE=1(stomach) 0.449 NA 6.1672667 1035 1 152732436 152732436 G C exonic KPRP NA synonymous SNV KPRP:NM_001025231:exon2:c.G372C:p.A124A exonic ENSG00000203786 NA synonymous SNV ENSG00000203786:ENST00000606109:exon1:c.G372C:p.A124A,ENSG00000203786:ENST00000368773:exon2:c.G372C:p.A124A NA NA 1q21.3 NA Name=STAT3 Name=8 NA rs4845480 0.51 0.51 0.501 0.490415 0.5159 0.4187 0.4914 0.5787 0.4182 0.5 0.43 0.54 0.6 0.4813 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.280503 NA NA 0.502558 0.553563 NA 0.464 NA 6.1669086 1035 12 62979216 62979216 G A exonic MON2 NA synonymous SNV MON2:NM_015026:exon33:c.G4842A:p.R1614R exonic ENSG00000061987 NA synonymous SNV ENSG00000061987:ENST00000393629:exon32:c.G4824A:p.R1608R,ENSG00000061987:ENST00000552738:exon32:c.G4755A:p.R1585R,ENSG00000061987:ENST00000393632:exon33:c.G4842A:p.R1614R,ENSG00000061987:ENST00000546600:exon33:c.G4842A:p.R1614R,ENSG00000061987:ENST00000280379:exon34:c.G4845A:p.R1615R,ENSG00000061987:ENST00000393630:exon34:c.G4845A:p.R1615R Score=713;Name=lod=1055 NA 12q14.1 NA NA NA NA rs11174557 0.09 0.09 0.092 0.0778754 0.1859 0.0169 0.1095 0.0129 0.0951 0.18 0.01 0.13 0.02 0.132 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041648 NA NA 0.18186 0.037903 NA 0.159 NA 6.1669066 1035 17 21208413 21208413 C T exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon9:c.C660T:p.S220S,MAP2K3:NM_145109:exon9:c.C747T:p.S249S exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000342679:exon9:c.C747T:p.S249S,ENSG00000034152:ENST00000361818:exon9:c.C660T:p.S220S,ENSG00000034152:ENST00000316920:exon10:c.C660T:p.S220S NA NA 17p11.2 Score=779;Name=V$PAX5_02 NA NA NA rs1657695 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532227 NA NA NA NA NA 0.486 NA 6.1668666 1035 6 57246884 57246884 A G exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA nonsynonymous SNV ENSG00000146143:ENST00000607273:exon7:c.A611G:p.D204G Score=643;Name=lod=548 NA 6p11.2 NA NA NA NA rs6913546 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.55151 2.55151 0.44 NA NA NA 0.493 NA 6.1667667 1035 6 136597262 136597262 T C exonic BCLAF1 NA synonymous SNV BCLAF1:NM_001077440:exon5:c.A1395G:p.V465V,BCLAF1:NM_014739:exon5:c.A1401G:p.V467V exonic ENSG00000029363 NA synonymous SNV ENSG00000029363:ENST00000392348:exon3:c.A1395G:p.V465V,ENSG00000029363:ENST00000353331:exon5:c.A1395G:p.V465V,ENSG00000029363:ENST00000527536:exon5:c.A1401G:p.V467V,ENSG00000029363:ENST00000527613:exon5:c.A1401G:p.V467V,ENSG00000029363:ENST00000527759:exon5:c.A1395G:p.V465V,ENSG00000029363:ENST00000529826:exon5:c.A1401G:p.V467V,ENSG00000029363:ENST00000530429:exon5:c.A1395G:p.V465V,ENSG00000029363:ENST00000531224:exon5:c.A1401G:p.V467V,ENSG00000029363:ENST00000532384:exon5:c.A1401G:p.V467V Score=841;Name=lod=3476 NA 6q23.3 NA NA NA NA rs1967444 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136237 NA NA NA NA NA 0.486 NA 6.1667666 1035 11 48346999 48346999 T G exonic OR4C3 NA synonymous SNV OR4C3:NM_001004702:exon1:c.T507G:p.L169L exonic ENSG00000176547 NA synonymous SNV ENSG00000176547:ENST00000319856:exon1:c.T507G:p.L169L Score=313;Name=lod=25 NA 11p11.2 NA NA NA NA rs72473367 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655245 NA NA NA NA NA 0.486 NA 6.1667666 1035 17 21215537 21215537 C A exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon10:c.C771A:p.S257S,MAP2K3:NM_145109:exon10:c.C858A:p.S286S exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000527123:exon1:c.C84A:p.S28S,ENSG00000034152:ENST00000342679:exon10:c.C858A:p.S286S,ENSG00000034152:ENST00000361818:exon10:c.C771A:p.S257S,ENSG00000034152:ENST00000316920:exon11:c.C771A:p.S257S NA NA 17p11.2 NA NA Name=4 NA rs55736474 0.5 0.5 0.42 0.00219649 NA NA NA 0.0083 NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177425 NA NA NA NA NA 0.493 NA 6.1667666 1035 17 21215552 21215552 C T exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon10:c.C786T:p.A262A,MAP2K3:NM_145109:exon10:c.C873T:p.A291A exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000527123:exon1:c.C99T:p.A33A,ENSG00000034152:ENST00000342679:exon10:c.C873T:p.A291A,ENSG00000034152:ENST00000361818:exon10:c.C786T:p.A262A,ENSG00000034152:ENST00000316920:exon11:c.C786T:p.A262A NA NA 17p11.2 NA NA Name=4 NA rs56369732 0.5 0.5 0.44 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069417 NA NA NA NA NA 0.493 NA 6.1667666 1035 17 21319473 21319473 G A exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.G819A:p.E273E,KCNJ12:NM_021012:exon3:c.G819A:p.E273E exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G819A:p.E273E,ENSG00000184185:ENST00000583088:exon3:c.G819A:p.E273E Score=503;Name=lod=147 NA 17p11.2 NA NA NA NA rs1657744 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289237 NA NA NA NA NA 0.478 NA 6.1667666 1035 1 45101905 45101905 G A intronic RNF220 NA NA NA UTR3 ENSG00000126106,ENSG00000187147 ENST00000372244:c.*154C>T,ENST00000372243:c.*177C>T,ENST00000372242:c.*177C>T;ENST00000488865:c.*289G>A NA NA Score=401;Name=lod=57 NA 1p34.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163262 NA NA NA NA NA NA NA 6.1666667 1035 1 144930596 144930596 C A exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001002811:exon1:c.G1113T:p.P371P exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000313431:exon1:c.G1113T:p.P371P,ENSG00000178104:ENST00000529945:exon1:c.G1113T:p.P371P NA NA 1q21.1 NA Name=USF-1,Pol2,USF1_(SC-8983),KAP1 NA NA rs2762867 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217776 NA NA NA NA NA 0.5 NA 6.1666666 1035 3 195426108 195426108 A G upstream MIR570 NA NA NA ncRNA_intronic ENSG00000242086 NA NA NA NA NA 3q29 NA Name=eGFP-JunD Name=31 NA rs73218505 NA NA 0.039 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654264 NA NA NA NA NA NA NA 6.1666666 1035 11 48346822 48346822 A C exonic OR4C3 NA synonymous SNV OR4C3:NM_001004702:exon1:c.A330C:p.S110S exonic ENSG00000176547 NA synonymous SNV ENSG00000176547:ENST00000319856:exon1:c.A330C:p.S110S NA NA 11p11.2 Score=884;Name=V$NFE2_01 NA NA NA rs73463997 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632934 NA NA NA NA NA 0.391 NA 6.1666666 1035 11 56467926 56467926 A G exonic OR9G1,OR9G9 NA synonymous SNV OR9G1:NM_001005213:exon1:c.A63G:p.G21G,OR9G9:NM_001013358:exon1:c.A63G:p.G21G exonic ENSG00000174914 NA synonymous SNV ENSG00000174914:ENST00000312153:exon1:c.A63G:p.G21G NA NA 11q12.1 NA NA Name=14 NA rs1704284 0.5 0.5 NA 0.00179712 NA NA NA NA 0.0092 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054854 NA NA NA NA NA 0.5 NA 6.1666666 1035 3 4856180 4856180 T C exonic ITPR1 NA synonymous SNV ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000544951:exon16:c.T1524C:p.T508T,ENSG00000150995:ENST00000456211:exon54:c.T7446C:p.T2482T,ENSG00000150995:ENST00000357086:exon55:c.T7491C:p.T2497T,ENSG00000150995:ENST00000423119:exon55:c.T7491C:p.T2497T,ENSG00000150995:ENST00000443694:exon55:c.T7590C:p.T2530T,ENSG00000150995:ENST00000302640:exon57:c.T7590C:p.T2530T,ENSG00000150995:ENST00000354582:exon57:c.T7590C:p.T2530T NA NA 3p26.1 NA Name=GTF2B,TBP,NF-E2,ELF1_(SC-631),c-Myc,MafK_(ab50322),eGFP-FOS,Pol2,HDAC2_(SC-6296),eGFP-JunD,c-Fos,c-Jun,p300_(F-4),eGFP-JunB,E2F6_(H-50) Name=52 NA rs711631 0.84 0.84 0.832 0.790935 0.836 0.9603 0.8213 0.6778 0.7014 0.86 0.94 0.84 0.71 0.8244 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.413006 1.413006 NA 0.839858 0.726725 NA 0.725 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117304.2;CLNDSDB=.;CLNDSDBID=. 6.1664086 1035 16 70303580 70303580 G A exonic AARS NA synonymous SNV AARS:NM_001605:exon7:c.C903T:p.H301H exonic ENSG00000090861 NA synonymous SNV ENSG00000090861:ENST00000261772:exon7:c.C903T:p.H301H NA NA 16q22.1 Score=888;Name=V$ZIC2_01 Name=Pol2 NA NA rs2070203 0.46 0.46 0.453 0.425319 0.5338 0.4256 0.4078 0.438 0.3088 0.53 0.4 0.42 0.46 0.4659 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796242 NA NA 0.500814 0.47111 NA 0.391 NA 6.1661526 1035 12 49521672 49521672 G A UTR3 TUBA1B NM_006082:c.*69C>T NA NA ncRNA_exonic ENSG00000258017 NA NA NA NA NA 12q13.12 NA Name=BCLAF1_(M33-P5B11),SP1,Pol2-4H8,CTCF_(SC-5916) Name=2 NA rs2753 0.53 0.53 0.549 0.555112 0.334 0.6835 0.3646 0.6997 0.59 0.34 0.72 0.39 0.68 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.110671 NA NA NA NA NA 0.536 NA 6.166 1035 1 94473845 94473845 T C exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon42:c.A5844G:p.P1948P exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000535881:exon5:c.A201G:p.P67P,ENSG00000198691:ENST00000536513:exon7:c.A654G:p.P218P,ENSG00000198691:ENST00000370225:exon42:c.A5844G:p.P1948P Score=389;Name=lod=51 NA 1p22.1 NA NA NA NA rs2275029 0.19 0.19 0.158 0.167133 0.1441 0.12 0.1585 0.264 0.1145 0.16 0.16 0.19 0.25 0.1748 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.467435 1.467435 NA 0.18186 0.234453 ID=COSM146561;OCCURENCE=1(stomach) 0.174 NA 6.1659066 1035 3 119128398 119128398 G A exonic ARHGAP31 NA synonymous SNV ARHGAP31:NM_020754:exon11:c.G1701A:p.P567P exonic ENSG00000031081 NA synonymous SNV ENSG00000031081:ENST00000264245:exon11:c.G1701A:p.P567P NA NA 3q13.33 Score=760;Name=V$NRSF_01 NA NA NA rs2305249 0.19 0.19 0.172 0.1877 0.1551 0.369 0.0922 0.09 0.2342 0.15 0.35 0.11 0.1 0.1706 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.265435 NA NA 0.175375 0.120115 ID=COSM149451;OCCURENCE=1(stomach) 0.094 NA 6.1655916 1036 3 127454661 127454661 G T intronic MGLL NA NA NA exonic ENSG00000074416 NA nonsynonymous SNV ENSG00000074416:ENST00000398101:exon1:c.C41A:p.A14E NA NA 3q21.3 NA NA NA NA rs180944812 0.0009 0.0009 NA 0.000798722 0.001 NA 0.0029 0.0008 NA NA NA 0.01 NA 0.0005 0.01 0.57 T 0.002 B 0.003 B . . 1.000 N . . . . -1.005 T 0.028 T 0.063 0.226 5.221 -0.913 -0.662 -0.041 4.091 0.226244 NA 0 0.000502 0.000571 NA NA NA 6.1646647 1036 2 44102491 44102491 C T exonic ABCG8 NA synonymous SNV ABCG8:NM_022437:exon11:c.C1695T:p.A565A exonic ENSG00000143921 NA synonymous SNV ENSG00000143921:ENST00000272286:exon11:c.C1695T:p.A565A Score=423;Name=lod=70 NA 2p21 NA NA NA NA rs4148221 0.13 0.13 0.133 0.127596 0.1759 0.0188 0.1556 0.1694 0.1135 0.17 0.02 0.19 0.14 0.1489 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960693 NA NA 0.177209 0.165002 NA 0.159 NA 6.1646576 1036 10 46999465 46999465 A G exonic GPRIN2 NA synonymous SNV GPRIN2:NM_014696:exon3:c.A585G:p.S195S exonic ENSG00000204175 NA synonymous SNV ENSG00000204175:ENST00000374314:exon1:c.A585G:p.S195S,ENSG00000204175:ENST00000374317:exon3:c.A585G:p.S195S NA NA 10q11.22 Score=776;Name=V$ARNT_02 NA NA NA rs3127682 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5021 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.452209 NA NA NA NA NA 0.5 NA 6.1645666 1036 19 19372150 19372150 C T intronic HAPLN4 NA NA NA ncRNA_intronic ENSG00000267629 NA NA NA NA NA 19p13.11 NA Name=ZBTB7A_(SC-34508),ELF1_(SC-631),PU.1 Name=7 NA rs7257875 0.22 0.22 0.225 0.244808 0.169 0.1151 0.1427 0.4516 0.2495 0.15 0.12 0.17 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099445 NA NA NA NA NA 0.101 NA 6.1643333 1036 19 19372185 19372185 G C intronic HAPLN4 NA NA NA ncRNA_intronic ENSG00000267629 NA NA NA NA NA 19p13.11 NA Name=Max,ELF1_(SC-631),PU.1,ZBTB7A_(SC-34508),Egr-1 Name=7 NA rs10422893 0.22 0.22 0.249 0.244808 0.169 0.1151 0.1427 0.4516 0.2495 0.15 0.12 0.17 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494132 NA NA NA NA NA 0.094 NA 6.1643333 1036 9 125316179 125316179 T G exonic OR1N2 NA nonsynonymous SNV OR1N2:NM_001004457:exon1:c.T731G:p.V244G exonic ENSG00000171501 NA nonsynonymous SNV ENSG00000171501:ENST00000373688:exon1:c.T731G:p.V244G NA NA 9q33.2 NA NA NA NA rs1341044 0.82 0.82 0.822 0.837061 0.7117 0.997 0.7752 0.8593 0.8149 0.69 1 0.76 0.85 0.7548 1 0.42 T 0.0 B 0.0 B 0.094 N 1.000 P -1.28 N 8.79 T -0.930 T 0.000 T 0.023 0.779 8.111 3.65 0.551 -0.440 5.998 0.778783 NA 0.13 0.702558 0.842941 NA 0.739 NA 6.1642754 1036 11 78437182 78437182 G A exonic TENM4 NA synonymous SNV TENM4:NM_001098816:exon23:c.C3492T:p.D1164D exonic ENSG00000149256 NA synonymous SNV ENSG00000149256:ENST00000278550:exon23:c.C3492T:p.D1164D Score=551;Name=lod=232 NA 11q14.1 NA NA NA NA rs689369 0.18 0.18 0.167 0.180312 0.161 0.1438 0.2277 0.2398 0.1237 0.14 0.13 0.24 0.27 0.175 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320457 NA NA 0.166465 0.208978 NA 0.225 NA 6.1642016 1036 5 147480112 147480112 T C exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon13:c.T1188C:p.H396H,SPINK5:NM_001127699:exon13:c.T1188C:p.H396H,SPINK5:NM_006846:exon13:c.T1188C:p.H396H exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon13:c.T1188C:p.H396H,ENSG00000133710:ENST00000359874:exon13:c.T1188C:p.H396H,ENSG00000133710:ENST00000398454:exon13:c.T1188C:p.H396H,ENSG00000133710:ENST00000508733:exon13:c.T1131C:p.H377H Score=419;Name=lod=67 NA 5q32 Score=772;Name=V$HEN1_01 NA NA NA rs2303065 0.43 0.43 0.377 0.432907 0.4861 0.4851 0.6167 0.1989 0.5102 0.46 0.46 0.59 0.23 0.5072 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326679 NA NA 0.510781 0.250126 ID=COSM149970;OCCURENCE=1(stomach) 0.362 NA 6.1625856 1036 8 144940300 144940300 G A exonic EPPK1 NA synonymous SNV EPPK1:NM_031308:exon1:c.C7122T:p.R2374R exonic ENSG00000227184 NA synonymous SNV ENSG00000227184:ENST00000525985:exon2:c.C7122T:p.R2374R Score=711;Name=lod=1036 NA 8q24.3 NA NA NA NA rs4977191 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5044 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.52321 1.52321 NA NA NA NA 0.507 NA 6.1622666 1036 15 81625385 81625385 C T exonic TMC3 NA nonsynonymous SNV TMC3:NM_001080532:exon22:c.G2678A:p.C893Y exonic ENSG00000188869 NA nonsynonymous SNV ENSG00000188869:ENST00000359440:exon22:c.G2678A:p.C893Y,ENSG00000188869:ENST00000558726:exon22:c.G2681A:p.C894Y NA NA 15q25.1 NA NA NA NA rs11636318 0.55 0.55 0.514 0.471046 0.7584 0.4782 0.5951 0.2277 0.409 0.76 0.47 0.65 0.24 0.6456 0.77 0.03 D 0.0 B 0.0 B 0.722 U 1.000 P 0 N -0.0 T -0.943 T 0.000 T 0.075 1.191 9.839 -1.28 -0.264 0.726 10.804 1.190567 NA 0.1 0.767425 0.310642 NA 0.493 NA 6.1619084 1036 2 98853173 98853173 G A exonic VWA3B NA nonsynonymous SNV VWA3B:NM_144992:exon19:c.G2653A:p.V885M exonic ENSG00000168658 NA nonsynonymous SNV ENSG00000168658:ENST00000477737:exon19:c.G2653A:p.V885M NA NA 2q11.2 NA NA NA NA rs11889349 0.6 0.6 0.633 0.664137 0.5447 0.7976 0.4914 0.621 0.8303 0.52 0.77 0.5 0.62 0.5822 0.77 0.21 T 0.827 P 0.169 B 0.522 N 1.000 P 1.175 L 3.2 T -1.002 T 0.000 T 0.154 -0.796 0.687 0.946 -0.049 0.250 4.495 -0.795959 NA 0.2 0.54489 0.611692 NA 0.551 NA 6.1615434 1036 12 57872306 57872306 G A intronic ARHGAP9 NA NA NA UTR5 ENSG00000123329 ENST00000552066:c.-861C>T NA NA NA NA 12q13.3 NA Name=GR Name=61 NA rs116549043 0.0037 0.0037 0.004 0.00539137 NA NA 0.0043 0.0174 0.001 NA NA 0.01 0.01 0.0031 0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315086 NA NA 0.002326 0.018157 NA NA NA 6.1612407 1036 1 26646730 26646730 A G exonic CD52 NA nonsynonymous SNV CD52:NM_001803:exon2:c.A123G:p.I41M exonic ENSG00000169442 NA nonsynonymous SNV ENSG00000169442:ENST00000374213:exon2:c.A123G:p.I41M NA NA 1p36.11 NA NA NA NA rs17645 0.62 0.62 0.63 0.580671 0.7356 0.4415 0.5807 0.6301 0.498 0.72 0.46 0.62 0.64 0.6711 0.77 0.54 T 0.0 B 0.001 B 0.258 N 1.000 P . . 1.53 T -0.972 T 0.000 T 0.062 0.413 6.245 3.42 0.796 0.087 7.166 0.413339 NA NA 0.765465 0.666818 ID=COSM1180633;OCCURENCE=1(upper_aerodigestive_tract) 0.652 NA 6.1611684 1036 12 48177906 48177906 C T exonic HDAC7 NA synonymous SNV HDAC7:NM_001098416:exon24:c.G2775A:p.V925V,HDAC7:NM_015401:exon25:c.G2886A:p.V962V exonic ENSG00000061273 NA synonymous SNV ENSG00000061273:ENST00000354334:exon24:c.G2775A:p.V925V,ENSG00000061273:ENST00000552960:exon24:c.G2835A:p.V945V,ENSG00000061273:ENST00000080059:exon25:c.G2886A:p.V962V,ENSG00000061273:ENST00000427332:exon25:c.G2769A:p.V923V,ENSG00000061273:ENST00000380610:exon26:c.G3044A:p.X1015X Score=435;Name=lod=78 NA 12q13.11 NA NA NA NA rs7306788 0.08 0.08 0.062 0.0714856 0.1769 0.002 0.0951 0.0197 0.0879 0.18 NA 0.1 0.02 0.1402 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813737 NA NA 0.188837 0.041761 NA 0.029 NA 6.1607296 1036 1 152192825 152192825 C T exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1280A:p.G427D exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.G1280A:p.G427D NA NA 1q21.3 NA NA NA NA rs6666097 0.4 0.4 0.371 0.345447 0.5855 0.2917 0.2795 0.2073 0.3875 0.59 0.32 0.36 0.22 0.4962 0.59 0.21 T 0.895 P 0.356 B . . 1.000 P 0.805 L 3.69 T -0.886 T 0.004 T 0.089 0.676 7.616 0.311 0.181 -0.075 3.523 0.675748 NA 0.74 0.591047 0.259873 NA 0.333 NA 6.1605864 1036 17 39240511 39240511 A T exonic KRTAP4-7 NA nonsynonymous SNV KRTAP4-7:NM_033061:exon1:c.A53T:p.D18V exonic ENSG00000240871 NA nonsynonymous SNV ENSG00000240871:ENST00000391417:exon1:c.A53T:p.D18V NA NA 17q21.2 NA NA NA NA rs383835 0.47 0.47 0.407 0.551717 0.6024 0.3879 0.6081 0.6445 0.5031 0.49 0.32 0.55 0.56 0.5705 0.56 0.12 T 0.043 B 0.007 B 0.273 U 1.000 P . . 6.25 T -1.046 T 0.000 T 0.247 -0.89 0.459 -1.55 -0.591 0.065 2.819 -0.889937 NA 0.19 NA NA NA NA NA 6.1604334 1036 13 25272870 25272870 C T exonic ATP12A NA synonymous SNV ATP12A:NM_001185085:exon12:c.C1605T:p.I535I,ATP12A:NM_001676:exon12:c.C1587T:p.I529I exonic ENSG00000075673 NA synonymous SNV ENSG00000075673:ENST00000218548:exon12:c.C1605T:p.I535I,ENSG00000075673:ENST00000381946:exon12:c.C1587T:p.I529I Score=529;Name=lod=188 NA 13q12.12 NA NA NA NA rs2289901 0.24 0.24 0.224 0.247804 0.175 0.1567 0.1556 0.4554 0.2014 0.18 0.16 0.17 0.46 0.1777 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326856 NA NA 0.153605 0.412846 NA 0.304 NA 6.1603616 1036 5 167919825 167919825 G A exonic RARS NA synonymous SNV RARS:NM_002887:exon3:c.G342A:p.Q114Q exonic ENSG00000113643 NA synonymous SNV ENSG00000113643:ENST00000231572:exon3:c.G342A:p.Q114Q,ENSG00000113643:ENST00000520013:exon3:c.G342A:p.Q114Q Score=626;Name=lod=466 NA 5q34 NA NA NA NA rs2305728 0.1 0.1 0.096 0.0742812 0.1799 0.0645 0.0908 0.0091 0.0521 0.18 0.08 0.11 0.02 0.1374 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.933495 NA NA 0.18907 0.036541 NA 0.043 NA 6.1602966 1036 5 167919726 167919726 A G exonic RARS NA synonymous SNV RARS:NM_002887:exon3:c.A243G:p.Q81Q exonic ENSG00000113643 NA synonymous SNV ENSG00000113643:ENST00000231572:exon3:c.A243G:p.Q81Q,ENSG00000113643:ENST00000520013:exon3:c.A243G:p.Q81Q,ENSG00000113643:ENST00000522834:exon3:c.A243G:p.Q81Q Score=317;Name=lod=26 NA 5q34 NA NA NA NA rs2305727 0.1 0.1 0.085 0.0742812 0.1799 0.0645 0.0908 0.0091 0.0521 0.18 0.08 0.11 0.02 0.1373 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218146 NA NA 0.189186 0.036314 NA 0.058 NA 6.1602806 1036 19 41257423 41257423 C T intronic SNRPA NA NA NA UTR5 ENSG00000188493 ENST00000596809:c.-6857G>A NA NA NA NA 19q13.2 NA Name=HA-E2F1 Name=64 NA rs77758833 0.02 0.02 0.028 0.0211661 NA NA 0.0086 0.0756 NA NA NA 0.02 0.09 0.0062 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.261232 1.261232 NA 0.000349 0.061961 NA 0.014 NA 6.1601177 1036 19 15905206 15905206 T C exonic OR10H5 NA synonymous SNV OR10H5:NM_001004466:exon1:c.T348C:p.T116T exonic ENSG00000172519 NA synonymous SNV ENSG00000172519:ENST00000308940:exon1:c.T348C:p.T116T Score=558;Name=lod=248 NA 19p13.12 NA NA NA NA rs4808380 0.11 0.11 0.087 0.150559 0.162 0.1071 0.1167 0.143 0.2178 0.14 0.1 0.09 0.09 0.1759 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174148 NA NA 0.168721 0.144349 NA 0.022 NA 6.1600456 1036 5 167933060 167933060 A G exonic RARS NA synonymous SNV RARS:NM_002887:exon10:c.A1092G:p.V364V exonic ENSG00000113643 NA synonymous SNV ENSG00000113643:ENST00000538719:exon9:c.A474G:p.V158V,ENSG00000113643:ENST00000231572:exon10:c.A1092G:p.V364V Score=557;Name=lod=245 NA 5q34 NA NA NA NA rs2305733 0.1 0.1 0.091 0.0744808 0.1799 0.0645 0.0908 0.0098 0.0521 0.18 0.08 0.11 0.02 0.1376 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074426 NA NA 0.189302 0.036768 NA 0.058 NA 6.1598646 1036 2 231738263 231738263 C T exonic ITM2C NA synonymous SNV ITM2C:NM_001012516:exon2:c.C252T:p.F84F,ITM2C:NM_030926:exon2:c.C252T:p.F84F exonic ENSG00000135916 NA synonymous SNV ENSG00000135916:ENST00000326407:exon2:c.C252T:p.F84F,ENSG00000135916:ENST00000326427:exon2:c.C252T:p.F84F,ENSG00000135916:ENST00000409704:exon2:c.C66T:p.F22F,ENSG00000135916:ENST00000418408:exon2:c.C66T:p.F22F,ENSG00000135916:ENST00000541852:exon2:c.C66T:p.F22F,ENSG00000135916:ENST00000543957:exon2:c.C66T:p.F22F,ENSG00000135916:ENST00000457215:exon3:c.C252T:p.F84F Score=493;Name=lod=135 NA 2q37.1 Score=787;Name=V$ARNT_02 NA NA NA rs2289234 0.54 0.54 0.502 0.509784 0.504 0.8155 0.5331 0.2277 0.5654 0.51 0.82 0.49 0.28 0.5193 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009406 NA NA 0.483605 0.249433 NA 0.399 NA 6.1597616 1036 1 12907837 12907837 C T exonic HNRNPCL1,LOC649330 NA synonymous SNV LOC649330:NM_001146181:exon1:c.G306A:p.A102A,HNRNPCL1:NM_001013631:exon2:c.G306A:p.A102A exonic ENSG00000179172 NA synonymous SNV ENSG00000179172:ENST00000317869:exon2:c.G306A:p.A102A Score=527;Name=lod=184 NA 1p36.21 NA NA NA NA rs1736811 NA NA 0.522 0.00738818 0.005 NA 0.0072 0.0182 0.0031 NA NA NA NA 0.5023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018164 NA NA NA NA NA 0.007 NA 6.1593666 1036 9 69238268 69238268 G A exonic CBWD6 NA synonymous SNV CBWD6:NM_001085457:exon8:c.C624T:p.V208V exonic ENSG00000204790 NA synonymous SNV ENSG00000204790:ENST00000382399:exon7:c.C564T:p.V188V,ENSG00000204790:ENST00000377457:exon8:c.C624T:p.V208V,ENSG00000204790:ENST00000377449:exon9:c.C516T:p.V172V Score=490;Name=lod=131 NA 9q21.11 NA NA NA NA rs71224226 NA NA 0.264 NA NA NA NA NA NA NA NA NA NA 0.5073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478777 NA NA NA NA NA NA NA 6.1593666 1036 2 231738269 231738269 G A exonic ITM2C NA synonymous SNV ITM2C:NM_001012516:exon2:c.G258A:p.A86A,ITM2C:NM_030926:exon2:c.G258A:p.A86A exonic ENSG00000135916 NA synonymous SNV ENSG00000135916:ENST00000326407:exon2:c.G258A:p.A86A,ENSG00000135916:ENST00000326427:exon2:c.G258A:p.A86A,ENSG00000135916:ENST00000409704:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000418408:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000541852:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000543957:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000457215:exon3:c.G258A:p.A86A Score=493;Name=lod=135 NA 2q37.1 Score=954;Name=V$AREB6_01 NA NA NA rs2289233 0.54 0.54 0.506 0.509385 0.504 0.8135 0.5331 0.2277 0.5654 0.51 0.82 0.49 0.28 0.5193 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714263 NA NA 0.484302 0.249887 NA 0.399 NA 6.1590646 1036 5 141051236 141051236 C T exonic ARAP3 NA synonymous SNV ARAP3:NM_022481:exon12:c.G1755A:p.A585A exonic ENSG00000120318 NA synonymous SNV ENSG00000120318:ENST00000513878:exon6:c.G741A:p.A247A,ENSG00000120318:ENST00000239440:exon12:c.G1755A:p.A585A,ENSG00000120318:ENST00000508305:exon12:c.G1521A:p.A507A NA NA 5q31.3 Score=799;Name=V$ARP1_01 NA NA NA rs12514851 0.17 0.17 0.14 0.183307 0.173 0.1389 0.2925 0.1286 0.2362 0.17 0.15 0.25 0.13 0.1878 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681489 NA NA 0.147674 0.141625 NA 0.123 NA 6.1581926 1036 5 118484804 118484804 G A exonic DMXL1 NA synonymous SNV DMXL1:NM_005509:exon18:c.G3282A:p.E1094E exonic ENSG00000172869 NA synonymous SNV ENSG00000172869:ENST00000311085:exon18:c.G3282A:p.E1094E,ENSG00000172869:ENST00000539542:exon18:c.G3282A:p.E1094E Score=646;Name=lod=563 NA 5q23.1 Score=873;Name=V$HNF3B_01 NA NA NA rs7734532 0.63 0.63 0.59 0.618211 0.4781 0.9524 0.6268 0.4584 0.6278 0.48 0.97 0.58 0.49 0.5545 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250294 NA NA 0.476047 0.484105 NA 0.529 NA 6.1580196 1036 17 44249096 44249096 A C exonic KANSL1 NA synonymous SNV KANSL1:NM_001193466:exon2:c.T414G:p.L138L,KANSL1:NM_015443:exon2:c.T414G:p.L138L,KANSL1:NM_001193465:exon3:c.T414G:p.L138L exonic ENSG00000120071 NA synonymous SNV ENSG00000120071:ENST00000432791:exon1:c.T414G:p.L138L,ENSG00000120071:ENST00000575318:exon1:c.T414G:p.L138L,ENSG00000120071:ENST00000262419:exon2:c.T414G:p.L138L,ENSG00000120071:ENST00000572904:exon2:c.T414G:p.L138L,ENSG00000120071:ENST00000574590:exon2:c.T414G:p.L138L,ENSG00000120071:ENST00000574655:exon3:c.T414G:p.L138L Score=827;Name=lod=3069 NA 17q21.31 NA NA NA NA rs17662889 0.1 0.1 0.084 0.0726837 0.1998 0.001 0.1398 0.0113 0.0511 0.19 0.0017 0.16 0.02 0.1252 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093704 NA NA 0.184651 0.038357 NA 0.043 NA 6.1570156 1036 3 118864997 118864997 A G UTR5 C3orf30 NM_152539:c.-40A>G NA NA UTR5 ENSG00000163424 ENST00000295622:c.-40A>G NA NA Score=284;Name=lod=19 NA 3q13.32 Score=873;Name=V$RFX1_01 NA NA NA rs72953098 0.1 0.1 0.059 0.0886581 0.0527 0.0774 0.2205 0.0908 0.0409 0.05 0.09 0.21 0.11 0.0751 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.26369 3.26369 NA 0.04965 0.076626 NA 0.087 NA 6.1558834 1036 17 76421467 76421467 A G exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon80:c.T13101C:p.P4367P exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon80:c.T13170C:p.P4390P,ENSG00000187775:ENST00000585328:exon80:c.T13086C:p.P4362P NA NA 17q25.3 Score=701;Name=V$P53_01 NA NA NA rs36119275 0.14 0.14 0.134 0.148562 0.1809 0.0248 0.134 0.2315 0.1411 0.18 0.03 0.15 0.22 0.1567 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253127 NA NA 0.173372 0.234226 NA 0.217 NA 6.1556946 1036 3 133524591 133524591 A G UTR5 SRPRB NM_021203:c.-102A>G NA NA UTR5 ENSG00000144867 ENST00000466490:c.-102A>G,ENST00000484684:c.-102A>G NA NA NA NA 3q22.1 NA Name=ZBTB33,ETS1,TAF1,Pol2(b),Znf143_(16618-1-AP),YY1_(C-20),HA-E2F1,E2F6,Pol2-4H8,Mxi1_(bHLH),Pol2,Pol2(phosphoS2),YY1,PAX5-C20,SIX5,CCNT2,c-Myc,Max,NFKB,ELF1_(SC-631),TBP,CHD2_(N-1250),Nrf1 Name=148 NA rs60142346 0.23 0.23 0.207 0.240016 0.1779 0.4841 0.1801 0.031 0.3773 0.18 0.48 0.19 0.05 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576843 NA NA NA NA NA 0.167 NA 6.1554334 1036 17 76421464 76421464 C T exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon80:c.G13104A:p.P4368P exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon80:c.G13173A:p.P4391P,ENSG00000187775:ENST00000585328:exon80:c.G13089A:p.P4363P NA NA 17q25.3 Score=701;Name=V$P53_01 NA NA NA rs35422926 0.14 0.14 0.132 0.148562 0.1809 0.0248 0.134 0.2315 0.1411 0.18 0.03 0.15 0.22 0.1567 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517488 NA NA 0.173837 0.234453 NA 0.217 NA 6.1552296 1036 2 44201376 44201376 T C exonic LRPPRC NA synonymous SNV LRPPRC:NM_133259:exon9:c.A1068G:p.Q356Q exonic ENSG00000138095 NA synonymous SNV ENSG00000138095:ENST00000260665:exon9:c.A1068G:p.Q356Q,ENSG00000138095:ENST00000409659:exon9:c.A1068G:p.Q356Q,ENSG00000138095:ENST00000409946:exon9:c.A1068G:p.Q356Q,ENSG00000138095:ENST00000447246:exon9:c.A990G:p.Q330Q NA NA 2p21 NA NA NA NA rs4953042 0.23 0.23 0.189 0.255791 0.1521 0.5198 0.2666 0.025 0.3947 0.15 0.51 0.24 0.03 0.2099 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.894074 NA NA 0.149535 0.048116 NA 0.217 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117555.2;CLNDSDB=.;CLNDSDBID=. 6.1551316 1037 2 132277686 132277686 C T ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=542;Name=lod=213 NA 2q21.1 Score=897;Name=V$TAL1BETAITF2_01,V$TAL1ALPHAE47_01,V$TAL1BETAE47_01 NA NA NA rs9287520 0.34 0.34 0.296 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.21 0.65 0.39 0.13 0.2923 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.467387 1.467387 NA NA NA NA 0.29 NA 6.1546666 1037 8 144660046 144660046 G A exonic NAPRT1 NA synonymous SNV NAPRT1:NM_145201:exon2:c.C294T:p.A98A exonic ENSG00000147813 NA synonymous SNV ENSG00000147813:ENST00000276844:exon2:c.C294T:p.A98A,ENSG00000147813:ENST00000340490:exon2:c.C294T:p.A98A,ENSG00000147813:ENST00000426292:exon2:c.C294T:p.A98A,ENSG00000147813:ENST00000435154:exon2:c.C294T:p.A98A,ENSG00000147813:ENST00000449291:exon2:c.C294T:p.A98A NA NA 8q24.3 NA NA Name=3 NA rs896954 0.15 0.15 0.145 0.155152 0.169 0.0933 0.255 0.0749 0.2423 0.19 0.11 0.24 0.09 0.1861 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686169 1.686169 NA 0.159277 0.097083 NA 0.072 NA 6.1522896 1037 16 2160503 2160503 T G exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon15:c.A4665C:p.A1555A,PKD1:NM_001009944:exon15:c.A4665C:p.A1555A exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon15:c.A4665C:p.A1555A,ENSG00000008710:ENST00000423118:exon15:c.A4665C:p.A1555A Score=420;Name=lod=68 NA 16p13.3 NA NA NA NA rs71385734 0.21 0.21 0.213 0.221645 0.167 NA 0.1787 0.556 0.0849 0.17 NA 0.2 0.52 0.1687 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384432 NA NA 0.179096 0.484973 ID=COSM1376565;OCCURENCE=1(large_intestine) 0.304 NA 6.1518706 1037 3 108107925 108107925 C A intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA Score=325;Name=lod=28 NA 3q13.13 NA Name=EBF1_(C-8),PAX5-C20 Name=29 NA rs7616341 0.2 0.2 0.192 0.204073 0.3111 0.0119 0.2003 0.2383 0.2485 0.32 0.0035 0.24 0.22 0.2488 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.67049 2.67049 NA 0.288844 0.228158 NA 0.203 NA 6.151256 1037 10 45622885 45622885 C T ncRNA_intronic RSU1P2 NA NA NA ncRNA_exonic ENSG00000235690 NA NA NA Score=409;Name=lod=61 NA 10q11.21 Score=806;Name=V$PAX4_01 NA NA NA rs3740099 0.54 0.54 0.487 0.52496 0.5159 0.5377 0.647 0.5507 0.3998 0.52 0.51 0.61 0.55 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086271 NA NA NA NA ID=COSN163641;OCCURENCE=1(breast) 0.514 NA 6.1507666 1037 22 30921371 30921371 T C exonic SEC14L6 NA synonymous SNV SEC14L6:NM_001193336:exon11:c.A1047G:p.E349E exonic ENSG00000214491 NA synonymous SNV ENSG00000214491:ENST00000402034:exon11:c.A1047G:p.E349E Score=410;Name=lod=62 NA 22q12.2 NA NA NA NA rs6518698 0.29 0.29 0.261 0.289337 0.2565 0.1399 0.3329 0.4811 0.1871 0.26 0.13 0.29 0.5 0.2595 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.020107 NA NA NA NA NA 0.196 NA 6.1506666 1037 12 100709420 100709420 C T exonic SCYL2 NA synonymous SNV SCYL2:NM_017988:exon9:c.C1180T:p.L394L exonic ENSG00000136021 NA synonymous SNV ENSG00000136021:ENST00000360820:exon9:c.C1180T:p.L394L,ENSG00000136021:ENST00000549687:exon9:c.C1180T:p.L394L Score=730;Name=lod=1230 NA 12q23.1 NA NA NA NA rs10860577 0.11 0.11 0.111 0.110423 0.1998 0.003 0.1239 0.1263 0.0982 0.19 0.0035 0.12 0.13 0.1373 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052591 NA NA 0.179186 0.121652 NA 0.138 NA 6.1503806 1037 17 27896307 27896307 C T intronic TP53I13 NA NA NA ncRNA_intronic ENSG00000264031 NA NA NA NA NA 17q11.2 NA Name=TCF4 Name=83 NA rs77532430 0.03 0.03 0.015 0.033746 0.0616 0.0099 0.036 0.0015 0.0716 0.06 0.0017 0.04 0.0041 0.0531 0.069 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.48903 2.48903 NA 0.068519 0.014721 NA 0.007 NA 6.1501143 1037 14 71062435 71062435 C T intronic MED6 NA NA NA ncRNA_exonic ENSG00000258951 NA NA NA Score=569;Name=lod=274 NA 14q24.2 NA Name=CTCF NA NA rs1962312 0.4 0.4 0.405 0.410543 0.1839 0.5605 0.1974 0.6959 0.2546 0.18 0.56 0.19 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014652 NA NA NA NA NA 0.442 NA 6.1494333 1037 19 13002400 13002400 G C intronic GCDH NA NA NA exonic ENSG00000105607 NA nonsynonymous SNV ENSG00000105607:ENST00000590445:exon3:c.G191C:p.W64S NA NA 19p13.2 NA Name=NFKB Name=5 NA rs1799918 0.25 0.25 0.213 0.253195 0.327 0.1478 0.4236 0.1815 0.2618 0.31 0.14 0.4 0.16 0.3268 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.874614 NA NA 0.363922 0.229769 NA 0.246 NA 6.1489447 1037 2 220315970 220315970 G A exonic SPEG NA synonymous SNV SPEG:NM_005876:exon5:c.G2226A:p.K742K exonic ENSG00000072195 NA synonymous SNV ENSG00000072195:ENST00000312358:exon5:c.G2226A:p.K742K,ENSG00000072195:ENST00000396698:exon6:c.G1914A:p.K638K Score=409;Name=lod=61 NA 2q35 Score=973;Name=V$NKX25_01 NA NA NA rs10932806 0.47 0.47 0.437 0.432308 0.5119 0.6716 0.4914 0.1392 0.4581 0.5 0.66 0.49 0.17 0.4904 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026229 NA NA 0.515501 0.19227 NA 0.319 NA 6.1488656 1037 11 63885305 63885305 C T exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.C1566T:p.P522P exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.C1566T:p.P522P NA NA 11q13.1 Score=840;Name=V$CEBP_C NA NA NA rs3824854 0.17 0.17 0.14 0.145567 0.174 0.1815 0.3055 0.0673 0.0716 0.17 0.18 0.27 0.07 0.1699 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629337 NA NA 0.174075 0.088369 NA 0.123 NA 6.1486916 1037 20 30193538 30193538 A G exonic ID1 NA synonymous SNV ID1:NM_002165:exon1:c.A348G:p.G116G,ID1:NM_181353:exon1:c.A348G:p.G116G exonic ENSG00000125968 NA synonymous SNV ENSG00000125968:ENST00000376105:exon1:c.A348G:p.G116G,ENSG00000125968:ENST00000376112:exon1:c.A348G:p.G116G NA NA 20q11.21 NA Name=Pol2-4H8,Pol2(b),HEY1,Pol2 NA NA rs15817 0.28 0.28 0.289 0.286741 0.16 NA 0.1859 0.8389 0.0378 0.16 NA 0.2 0.83 0.2009 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525674 NA NA 0.157478 0.689741 NA 0.319 NA 6.1482886 1037 20 30157026 30157026 A G ncRNA_UTR3 HM13 NA NA NA ncRNA_UTR3 ENSG00000101294 NA NA NA NA NA 20q11.21 NA Name=SMC3_(ab9263),CTCF,RXRA,GR,Rad21,CTCF_(SC-5916),FOSL2 Name=16 NA rs4607 0.26 0.26 0.248 0.272963 0.1571 NA 0.1816 0.7912 0.0378 0.16 NA 0.2 0.77 0.21 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003745 NA NA 0.151469 0.649818 NA 0.326 NA 6.1480976 1037 12 122079189 122079189 C T exonic ORAI1 NA synonymous SNV ORAI1:NM_032790:exon2:c.C552T:p.I184I exonic ENSG00000182500 NA synonymous SNV ENSG00000182500:ENST00000330079:exon2:c.C552T:p.I184I,ENSG00000182500:ENST00000537188:exon2:c.C237T:p.I79I Score=511;Name=lod=159 NA 12q24.31 NA NA NA NA rs3741595 0.16 0.16 0.151 0.203874 0.1551 0.2599 0.2651 0.0635 0.3425 0.15 0.21 0.24 0.07 0.1968 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766421 NA NA 0.167093 0.086019 NA 0.123 NA 6.1476736 1037 19 15905639 15905639 C T exonic OR10H5 NA synonymous SNV OR10H5:NM_001004466:exon1:c.C781T:p.L261L exonic ENSG00000172519 NA synonymous SNV ENSG00000172519:ENST00000308940:exon1:c.C781T:p.L261L Score=376;Name=lod=45 NA 19p13.12 NA NA NA NA rs3746151 0.14 0.14 0.112 0.152556 0.161 0.122 0.1153 0.1422 0.2157 0.17 0.14 0.1 0.15 0.1779 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714747 NA NA 0.180116 0.154335 NA 0.101 NA 6.1476506 1037 11 6502636 6502636 G C UTR5 ARFIP2 NM_001242856:c.-1375C>G,NM_001242855:c.-1353C>G,NM_001242854:c.-985C>G,NM_012402:c.-985C>G NA NA UTR5 ENSG00000132254 ENST00000396777:c.-985C>G,ENST00000423813:c.-1353C>G NA NA NA NA 11p15.4 NA Name=USF-1,Nrf1,THAP1_(SC-98174),TBP,IRF1,c-Myc,CCNT2,AP-2gamma,PAX5-N19,SREBP2,PAX5-C20,SIX5,SRF,RFX5_(N-494),YY1,Pol2-4H8,FOSL2,JunD,Pol2(b),ELK4,CHD2_(N-1250),GTF2F1_(RAP-74),Max,ELF1_(SC-631),SP1,Mxi1_(bHLH),PU.1,Pol2,Pol2(phosphoS2),BRCA1_(C-1863),YY1_(C-20),TR4,eGFP-JunD,ETS1,SREBP1,GATA-1,SP2_(SC-643),ZBTB33,HMGN3,GABP Name=148 NA rs11600431 0.17 0.17 0.191 0.1877 0.1869 0.0327 0.1729 0.2852 0.227 0.19 0.04 0.16 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306022 NA NA NA NA NA 0.304 NA 6.1464334 1037 18 45566276 45566276 G A exonic ZBTB7C NA synonymous SNV ZBTB7C:NM_001039360:exon2:c.C1203T:p.F401F exonic ENSG00000184828 NA synonymous SNV ENSG00000184828:ENST00000332053:exon1:c.C1203T:p.F401F,ENSG00000184828:ENST00000535628:exon2:c.C1203T:p.F401F,ENSG00000184828:ENST00000586438:exon2:c.C1203T:p.F401F,ENSG00000184828:ENST00000588982:exon3:c.C1203T:p.F401F,ENSG00000184828:ENST00000590800:exon4:c.C1203T:p.F401F Score=601;Name=lod=369 NA 18q21.1 NA NA NA NA rs80109066 0.21 0.21 0.181 0.196486 0.174 0.2252 0.1988 0.2632 0.0982 0.18 0.23 0.2 0.23 0.1811 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729997 NA NA 0.166279 0.256468 NA 0.159 NA 6.1452876 1037 2 201785837 201785837 G A exonic ORC2 NA synonymous SNV ORC2:NM_006190:exon14:c.C1173T:p.L391L exonic ENSG00000115942 NA synonymous SNV ENSG00000115942:ENST00000234296:exon14:c.C1173T:p.L391L Score=687;Name=lod=829 NA 2q33.1 NA NA NA NA rs2307362 0.19 0.19 0.207 0.191693 0.1928 0.0139 0.147 0.4486 0.0583 0.2 0.0035 0.15 0.41 0.158 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958426 NA NA 0.170814 0.371993 NA 0.21 NA 6.1450526 1038 16 5145474 5145474 C T exonic FAM86A NA synonymous SNV FAM86A:NM_201400:exon2:c.G138A:p.L46L,FAM86A:NM_201598:exon2:c.G138A:p.L46L exonic ENSG00000118894 NA synonymous SNV ENSG00000118894:ENST00000427587:exon2:c.G138A:p.L46L,ENSG00000118894:ENST00000458008:exon2:c.G138A:p.L46L,ENSG00000118894:ENST00000585436:exon2:c.G138A:p.L46L,ENSG00000118894:ENST00000587133:exon2:c.G138A:p.L46L,ENSG00000118894:ENST00000587200:exon2:c.G138A:p.L46L Score=391;Name=lod=52 NA 16p13.3 NA NA NA NA rs7192650 0.13 0.13 0.115 0.108027 0.1889 0.1161 0.2032 0.034 0.0491 0.18 0.12 0.18 0.04 0.1535 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325935 NA NA 0.179935 0.057351 NA 0.014 NA 6.1443316 1038 11 89392799 89392799 G A UTR5 FOLH1B NM_153696:c.-9778G>A NA NA ncRNA_exonic ENSG00000134612 NA NA NA Score=635;Name=lod=510 NA 11q14.3 Score=852;Name=V$TAL1BETAE47_01 NA NA NA rs10830330 0.22 0.22 0.202 0.202077 0.3559 0.0853 0.2248 0.1331 0.2413 0.34 0.09 0.27 0.15 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.190133 2.190133 NA NA NA NA 0.283 NA 6.1441 1038 1 153004848 153004848 T C exonic SPRR1B NA synonymous SNV SPRR1B:NM_003125:exon2:c.T27C:p.P9P exonic ENSG00000169469 NA synonymous SNV ENSG00000169469:ENST00000392661:exon1:c.T27C:p.P9P,ENSG00000169469:ENST00000307098:exon2:c.T27C:p.P9P Score=420;Name=lod=68 NA 1q21.3 NA Name=PAX5-N19 NA NA rs3795381 0.52 0.52 0.497 0.49401 0.5099 0.5913 0.4251 0.4402 0.499 0.51 0.62 0.46 0.46 0.5025 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846404 NA NA 0.510698 0.46936 NA 0.449 NA 6.1435686 1038 19 39416887 39416887 C T exonic SARS2 NA synonymous SNV SARS2:NM_001145901:exon2:c.G321A:p.E107E,SARS2:NM_017827:exon2:c.G321A:p.E107E exonic ENSG00000104835,ENSG00000269547 NA synonymous SNV ENSG00000104835:ENST00000221431:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000430193:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000455102:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000598343:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000600042:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000448145:exon6:c.G321A:p.E107E Score=496;Name=lod=138 NA 19q13.2 NA NA NA NA rs11544093 0.2 0.2 0.164 0.189896 0.1879 0.3313 0.1556 0.087 0.2096 0.19 0.33 0.15 0.08 0.1773 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636752 NA NA 0.15907 0.095098 NA 0.116 NA 6.1423966 1038 18 50936994 50936994 T C exonic DCC NA synonymous SNV DCC:NM_005215:exon20:c.T3108C:p.P1036P exonic ENSG00000187323 NA synonymous SNV ENSG00000187323:ENST00000581580:exon17:c.T2013C:p.P671P,ENSG00000187323:ENST00000412726:exon20:c.T2592C:p.P864P,ENSG00000187323:ENST00000442544:exon20:c.T3108C:p.P1036P Score=527;Name=lod=184 NA 18q21.2 Score=773;Name=V$LUN1_01 NA NA NA rs2229082 0.35 0.35 0.331 0.310304 0.5368 0.2262 0.3127 0.174 0.3466 0.53 0.23 0.37 0.18 0.4517 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005549 NA NA 0.535822 0.240808 NA 0.406 NA 6.1423446 1038 12 3387697 3387697 T C exonic TSPAN9 NA synonymous SNV TSPAN9:NM_001168320:exon3:c.T174C:p.I58I,TSPAN9:NM_006675:exon4:c.T174C:p.I58I exonic ENSG00000011105 NA synonymous SNV ENSG00000011105:ENST00000407263:exon2:c.T174C:p.I58I,ENSG00000011105:ENST00000537971:exon3:c.T174C:p.I58I,ENSG00000011105:ENST00000011898:exon4:c.T174C:p.I58I Score=378;Name=lod=46 NA 12p13.32 NA NA NA NA rs16930370 0.18 0.18 0.193 0.172724 0.1839 0.1022 0.1571 0.2761 0.1053 0.18 0.11 0.18 0.27 0.164 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376779 NA NA 0.176977 0.283931 NA 0.355 NA 6.1417896 1038 3 152554357 152554357 A G exonic P2RY1 NA synonymous SNV P2RY1:NM_002563:exon1:c.A786G:p.V262V exonic ENSG00000169860 NA synonymous SNV ENSG00000169860:ENST00000305097:exon1:c.A786G:p.V262V Score=567;Name=lod=268 NA 3q25.2 NA NA NA NA rs701265 0.34 0.34 0.365 0.365415 0.163 0.248 0.2651 0.7852 0.1984 0.16 0.27 0.22 0.77 0.2152 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415042 NA NA 0.147791 0.677031 NA 0.457 NA 6.1406756 1038 6 158507981 158507981 G A exonic SYNJ2 NA synonymous SNV SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R exonic ENSG00000078269 NA synonymous SNV ENSG00000078269:ENST00000367112:exon6:c.G558A:p.R186R,ENSG00000078269:ENST00000355585:exon23:c.G3303A:p.R1101R,ENSG00000078269:ENST00000367121:exon23:c.G3303A:p.R1101R Score=540;Name=lod=208 NA 6q25.3 Score=798;Name=V$CDPCR3_01 NA NA NA rs2296506 0.53 0.53 0.554 0.527955 0.5099 0.5913 0.3386 0.5719 0.5562 0.53 0.56 0.37 0.6 0.5079 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210513 NA NA 0.508256 0.55379 ID=COSM450805;OCCURENCE=1(breast) 0.551 NA 6.1406106 1038 9 100823084 100823084 T C exonic NANS NA synonymous SNV NANS:NM_018946:exon2:c.T153C:p.A51A exonic ENSG00000095380 NA synonymous SNV ENSG00000095380:ENST00000210444:exon2:c.T153C:p.A51A Score=597;Name=lod=356 NA 9q22.33 Score=730;Name=V$PAX4_04 NA NA NA rs13049 0.56 0.56 0.549 0.640775 0.4781 0.3323 0.6643 0.9327 0.7147 0.48 0.33 0.6 0.91 0.5482 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.628551 1.628551 NA 0.500465 0.866092 NA 0.652 NA 6.1399016 1038 12 7585971 7585971 A G exonic CD163L1 NA synonymous SNV CD163L1:NM_174941:exon3:c.T444C:p.Y148Y exonic ENSG00000177675 NA synonymous SNV ENSG00000177675:ENST00000313599:exon3:c.T444C:p.Y148Y,ENSG00000177675:ENST00000396630:exon3:c.T444C:p.Y148Y,ENSG00000177675:ENST00000416109:exon3:c.T444C:p.Y148Y,ENSG00000177675:ENST00000543276:exon4:c.T156C:p.Y52Y NA NA 12p13.31 NA Name=STAT3,c-Jun,c-Fos,FOSL2,JunD Name=100 NA rs10845159 0.36 0.36 0.335 0.286941 0.5457 0.3413 0.3458 0.0242 0.2781 0.55 0.37 0.39 0.03 0.4321 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116957 NA NA 0.549419 0.113936 NA 0.341 NA 6.1394476 1038 1 42619139 42619139 A G exonic GUCA2B NA synonymous SNV GUCA2B:NM_007102:exon1:c.A18G:p.A6A exonic ENSG00000044012 NA synonymous SNV ENSG00000044012:ENST00000372581:exon1:c.A18G:p.A6A NA NA 1p34.2 NA Name=NRSF NA NA rs1047047 0.29 0.29 0.29 0.315495 0.165 0.4038 0.2896 0.4614 0.2004 0.16 0.38 0.24 0.45 0.2124 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451234 NA NA 0.15093 0.386064 NA 0.399 NA 6.1383366 1038 6 32629868 32629868 A G exonic HLA-DQB1 NA synonymous SNV HLA-DQB1:NM_001243961:exon3:c.T537C:p.L179L,HLA-DQB1:NM_002123:exon3:c.T537C:p.L179L exonic ENSG00000179344 NA synonymous SNV ENSG00000179344:ENST00000399082:exon2:c.T267C:p.L89L,ENSG00000179344:ENST00000374943:exon3:c.T537C:p.L179L,ENSG00000179344:ENST00000399079:exon3:c.T537C:p.L179L,ENSG00000179344:ENST00000434651:exon3:c.T537C:p.L179L,ENSG00000179344:ENST00000399084:exon4:c.T537C:p.L179L NA NA 6p21.32 Score=864;Name=V$BRN2_01 NA NA NA rs1049088 0.18 0.18 0.131 0.205072 0.1909 0.2331 0.1484 0.2201 0.2106 0.19 0.14 0.17 0.21 0.1757 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.307633 NA NA 0.162363 0.193306 NA 0.145 NA 6.1377036 1038 6 24403196 24403196 T C UTR5 MRS2 NM_020662:c.-79T>C NA NA UTR5 ENSG00000124532 ENST00000274747:c.-79T>C,ENST00000543597:c.-15153T>C,ENST00000535061:c.-79T>C,ENST00000378386:c.-79T>C,ENST00000378353:c.-79T>C,ENST00000443868:c.-79T>C NA NA NA NA 6p22.3 NA Name=FOXA1_(C-20),TAF1,E2F6_(H-50),ZNF263,Pol2-4H8,E2F6,Pol2,NRSF,Mxi1_(bHLH),YY1,Pol2(phosphoS2),Max,FOXA1_(SC-101058),ELF1_(SC-631),NFKB,HEY1,ZEB1_(SC-25388),FOXA2_(SC-6554),TBP,GTF2F1_(RAP-74),IRF1,Nrf1 Name=145 NA rs79747846 0.13 0.13 0.118 0.119808 0.1958 0.1488 0.1023 0.025 0.1524 0.2 0.16 0.09 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.516517 1.516517 NA NA NA NA 0.101 NA 6.1375334 1038 17 43011908 43011908 G A exonic KIF18B NA synonymous SNV KIF18B:NM_001264573:exon5:c.C654T:p.N218N,KIF18B:NM_001265577:exon5:c.C654T:p.N218N exonic ENSG00000186185 NA synonymous SNV ENSG00000186185:ENST00000438933:exon4:c.C654T:p.N218N,ENSG00000186185:ENST00000590129:exon4:c.C681T:p.N227N,ENSG00000186185:ENST00000339151:exon5:c.C654T:p.N218N,ENSG00000186185:ENST00000587309:exon5:c.C654T:p.N218N,ENSG00000186185:ENST00000593135:exon5:c.C654T:p.N218N NA NA 17q21.31 NA Name=Pol2 NA NA rs755547 0.12 0.12 0.133 0.121605 0.166 0.0129 0.1369 0.1188 0.181 0.16 0.01 0.17 0.15 0.1692 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517505 NA NA 0.19436 0.139636 ID=COSM436717;OCCURENCE=2(breast) 0.109 NA 6.1371066 1038 17 4636565 4636565 T G UTR3 MED11 NM_001001683:c.*83T>G NA NA UTR3 ENSG00000161920 ENST00000575284:c.*290T>G,ENST00000293777:c.*83T>G NA NA NA NA 17p13.2 NA Name=Rad21,CTCF,EBF1_(C-8) Name=21 NA rs8123 0.24 0.24 0.212 0.251797 0.1968 0.3075 0.2839 0.1823 0.3221 0.2 0.3 0.31 0.17 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292277 NA NA NA NA NA 0.225 NA 6.1365334 1038 7 28997141 28997141 G C exonic TRIL NA unknown UNKNOWN ncRNA_exonic ENSG00000176734,ENSG00000255690 NA NA NA Score=352;Name=lod=36 NA 7p14.3 NA NA Name=21 NA rs6950750 0.32 0.32 0.28 0.327276 0.2147 0.6091 0.2637 0.236 0.3211 0.21 0.61 0.24 0.22 0.272 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827255 NA NA 0.210463 0.232955 NA 0.188 NA 6.1361703 1038 15 101110302 101110302 C G exonic LINS NA nonsynonymous SNV LINS:NM_001040616:exon7:c.G1415C:p.S472T exonic ENSG00000140471 NA nonsynonymous SNV ENSG00000140471:ENST00000314742:exon7:c.G1415C:p.S472T NA NA 15q26.3 NA NA NA NA rs2411837 0.28 0.28 0.277 0.254792 0.4215 0.2252 0.2219 0.115 0.3262 0.43 0.23 0.25 0.14 0.3438 0.43 0.07 T 0.372 B 0.114 B 0.950 N 1.000 P 1.39 L 2.22 T -0.912 T 0.000 T 0.031 0.415 6.256 1.52 0.285 -0.174 8.292 0.415431 NA 0.08 0.432194 0.156832 ID=COSM147995;OCCURENCE=1(stomach) 0.297 NA 6.1358394 1038 17 80044211 80044211 G A exonic FASN NA synonymous SNV FASN:NM_004104:exon22:c.C3651T:p.G1217G exonic ENSG00000169710 NA synonymous SNV ENSG00000169710:ENST00000306749:exon22:c.C3651T:p.G1217G Score=381;Name=lod=47 NA 17q25.3 NA NA NA NA rs41283365 0.09 0.09 0.091 0.0650958 0.172 0.004 0.0965 0.0098 0.0706 0.18 NA 0.12 0.02 0.1687 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531366 NA NA 0.190498 0.037827 NA 0.094 NA 6.1354686 1038 15 91312823 91312823 T C intronic BLM NA NA NA intronic ENSG00000197299 NA NA NA Score=458;Name=lod=97 NA 15q26.1 NA NA Name=3 NA rs3815003 0.36 0.36 0.352 0.366613 0.2913 0.3185 0.2435 0.6747 0.1646 0.28 0.31 0.25 0.64 0.2956 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18872 NA NA 0.277687 0.58576 NA 0.348 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078057.3;CLNDSDB=.;CLNDSDBID=. 6.135413 1039 19 7747445 7747445 G A exonic TRAPPC5 NA synonymous SNV TRAPPC5:NM_001042461:exon2:c.G306A:p.A102A,TRAPPC5:NM_001042462:exon2:c.G306A:p.A102A,TRAPPC5:NM_174894:exon2:c.G306A:p.A102A exonic ENSG00000181029 NA synonymous SNV ENSG00000181029:ENST00000317378:exon2:c.G306A:p.A102A,ENSG00000181029:ENST00000426877:exon2:c.G306A:p.A102A,ENSG00000181029:ENST00000595985:exon2:c.G105A:p.A35A,ENSG00000181029:ENST00000596148:exon2:c.G306A:p.A102A NA NA 19p13.2 Score=777;Name=V$PAX5_02 NA NA NA rs1053363 0.22 0.22 0.227 0.243011 0.174 0.127 0.1326 0.4274 0.2628 0.18 0.14 0.13 0.46 0.1939 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303537 1.303537 NA 0.164563 0.394569 NA 0.239 NA 6.1342036 1039 12 26811045 26811045 T C exonic ITPR2 NA synonymous SNV ITPR2:NM_002223:exon17:c.A1905G:p.S635S exonic ENSG00000123104 NA synonymous SNV ENSG00000123104:ENST00000381340:exon17:c.A1905G:p.S635S Score=505;Name=lod=150 NA 12p11.23 NA NA NA NA rs12313993 0.17 0.17 0.171 0.20607 0.1779 0.0139 0.1383 0.3918 0.2301 0.17 0.01 0.15 0.37 0.1832 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134817 NA NA 0.171569 0.364835 NA 0.283 NA 6.1339976 1039 15 23932467 23932467 G A upstream NDN NA NA NA upstream ENSG00000182636 NA NA NA Score=355;Name=lod=37 NA 15q11.2 NA Name=Nrf1,TAF1,E2F6_(H-50) Name=56 NA rs3743340 0.54 0.54 0.501 0.539936 0.5328 0.5744 0.5692 0.4773 0.5757 0.49 0.58 0.55 0.55 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.392508 2.392508 NA NA NA NA NA NA 6.1338666 1039 2 15735648 15735648 T C exonic DDX1 NA synonymous SNV DDX1:NM_004939:exon3:c.T103C:p.L35L exonic ENSG00000079785 NA synonymous SNV ENSG00000079785:ENST00000233084:exon3:c.T103C:p.L35L,ENSG00000079785:ENST00000381341:exon4:c.T103C:p.L35L NA NA 2p24.3 Score=922;Name=V$SOX9_B1 NA NA NA rs2302929 0.2 0.2 0.192 0.17492 0.164 0.371 0.1354 0.0333 0.2035 0.17 0.38 0.15 0.04 0.1801 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74307 NA NA 0.188837 0.061734 NA 0.159 NA 6.1337296 1039 5 19591174 19591174 A G exonic CDH18 NA synonymous SNV CDH18:NM_001167667:exon7:c.T991C:p.L331L,CDH18:NM_004934:exon7:c.T991C:p.L331L exonic ENSG00000145526 NA synonymous SNV ENSG00000145526:ENST00000515257:exon5:c.T829C:p.L277L,ENSG00000145526:ENST00000511273:exon6:c.T991C:p.L331L,ENSG00000145526:ENST00000274170:exon7:c.T991C:p.L331L,ENSG00000145526:ENST00000382275:exon7:c.T991C:p.L331L,ENSG00000145526:ENST00000502796:exon7:c.T991C:p.L331L,ENSG00000145526:ENST00000506372:exon7:c.T991C:p.L331L,ENSG00000145526:ENST00000507958:exon9:c.T991C:p.L331L Score=533;Name=lod=196 NA 5p14.3 NA NA NA NA rs17285716 0.1 0.1 0.076 0.0958466 0.1799 0.004 0.1945 0.0151 0.1431 0.18 0.0017 0.18 0.02 0.1678 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.156918 NA NA 0.185465 0.047208 ID=COSM1178259,COSM1178258;OCCURENCE=1(prostate) 0.101 NA 6.1335016 1039 10 99696003 99696003 G A exonic CRTAC1 NA synonymous SNV CRTAC1:NM_001206528:exon3:c.C345T:p.I115I,CRTAC1:NM_018058:exon3:c.C345T:p.I115I exonic ENSG00000095713 NA synonymous SNV ENSG00000095713:ENST00000413387:exon1:c.C33T:p.I11I,ENSG00000095713:ENST00000309155:exon2:c.C321T:p.I107I,ENSG00000095713:ENST00000298819:exon3:c.C345T:p.I115I,ENSG00000095713:ENST00000370591:exon3:c.C345T:p.I115I,ENSG00000095713:ENST00000370597:exon3:c.C345T:p.I115I Score=535;Name=lod=200 NA 10q24.2 NA NA NA NA rs35027739 0.1 0.1 0.092 0.107428 0.166 0.0208 0.0893 0.0613 0.2117 0.18 0.01 0.12 0.05 0.1688 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883841 NA NA 0.199186 0.077621 NA 0.058 NA 6.1326806 1039 1 22835677 22835677 A G exonic ZBTB40 NA nonsynonymous SNV ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C exonic ENSG00000184677 NA nonsynonymous SNV ENSG00000184677:ENST00000374651:exon7:c.A1448G:p.Y483C,ENSG00000184677:ENST00000375647:exon9:c.A1784G:p.Y595C,ENSG00000184677:ENST00000404138:exon10:c.A1784G:p.Y595C NA NA 1p36.12 NA NA Name=3 NA rs209729 0.84 0.84 0.841 0.822484 0.7167 0.8929 0.8429 0.9395 0.6861 0.73 0.91 0.82 0.93 0.7648 0.93 0.24 T 0.0 B 0.0 B 0.668 N 1.000 P -0.345 N 1.03 T -1.050 T 0.000 T 0.039 1.07 9.371 0.925 -0.333 0.223 2.866 1.070475 NA 0.51 0.719186 0.903995 NA 0.746 NA 6.1326474 1039 22 42334953 42334953 C G UTR3 CENPM NM_001110215:c.*107G>C,NM_024053:c.*107G>C,NM_001002876:c.*234G>C NA NA UTR3 ENSG00000100162 ENST00000215980:c.*107G>C,ENST00000402338:c.*107G>C,ENST00000404067:c.*234G>C,ENST00000472374:c.*107G>C,ENST00000407253:c.*234G>C NA NA NA NA 22q13.2 NA Name=EBF Name=37 NA rs1047997 0.27 0.27 0.268 0.29992 0.2008 0.124 0.4467 0.413 0.3262 0.2 0.14 0.42 0.41 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.037694 NA NA NA NA NA 0.312 NA 6.1325334 1039 7 149523195 149523195 C G exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon101:c.C14278G:p.H4760D ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 Score=793;Name=V$HEN1_01 NA NA NA rs78492471 0.07 0.07 0.076 0.0473243 0.1421 0.001 0.0764 0.0053 0.0337 0.15 NA 0.09 0.01 0.0906 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.424122 NA 0.13 0.135158 0.024682 ID=COSM1319001;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.145 NA 6.132142 1039 11 6231731 6231731 C T exonic C11orf42 NA nonsynonymous SNV C11orf42:NM_173525:exon2:c.C724T:p.P242S exonic ENSG00000180878 NA nonsynonymous SNV ENSG00000180878:ENST00000316375:exon2:c.C724T:p.P242S NA NA 11p15.4 NA NA NA NA rs10769671 0.68 0.68 0.643 0.617212 0.7535 0.8135 0.719 0.3555 0.5562 0.74 0.78 0.78 0.38 0.7046 0.78 0.3 T 0.001 B 0.006 B 0.281 N 1.000 P 0.55 N 0.96 T -1.020 T 0.000 T 0.018 -0.068 3.671 3.24 0.734 0.284 8.134 -0.067571 NA 0.35 0.743482 0.440482 NA 0.703 NA 6.1317514 1039 20 57244493 57244493 G A exonic STX16 NA synonymous SNV STX16:NM_001134772:exon4:c.G528A:p.Q176Q,STX16:NM_003763:exon4:c.G477A:p.Q159Q,STX16:NM_001001433:exon5:c.G540A:p.Q180Q,STX16:NM_001134773:exon5:c.G489A:p.Q163Q,STX16:NM_001204868:exon6:c.G381A:p.Q127Q exonic ENSG00000124222,ENSG00000254995 NA synonymous SNV ENSG00000124222:ENST00000438253:exon3:c.G366A:p.Q122Q,ENSG00000124222:ENST00000358029:exon4:c.G528A:p.Q176Q,ENSG00000124222:ENST00000371132:exon4:c.G477A:p.Q159Q,ENSG00000124222:ENST00000312283:exon5:c.G381A:p.Q127Q,ENSG00000124222:ENST00000355957:exon5:c.G489A:p.Q163Q,ENSG00000124222:ENST00000361770:exon5:c.G489A:p.Q163Q,ENSG00000124222:ENST00000361830:exon5:c.G540A:p.Q180Q,ENSG00000124222:ENST00000371141:exon5:c.G540A:p.Q180Q,ENSG00000124222:ENST00000464640:exon5:c.G489A:p.Q163Q,ENSG00000254995:ENST00000530122:exon5:c.G540A:p.Q180Q,ENSG00000124222:ENST00000359617:exon6:c.G381A:p.Q127Q Score=511;Name=lod=159 NA 20q13.32 NA NA Name=4 NA rs2296524 0.48 0.48 0.488 0.474441 0.5 0.4147 0.4553 0.5008 0.4877 0.51 0.46 0.46 0.48 0.5021 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.346533 1.346533 NA 0.532952 0.484018 NA 0.529 NA 6.1316146 1039 13 50123688 50123688 G T exonic RCBTB1 NA synonymous SNV RCBTB1:NM_018191:exon9:c.C951A:p.S317S exonic ENSG00000136144 NA synonymous SNV ENSG00000136144:ENST00000258646:exon7:c.C951A:p.S317S,ENSG00000136144:ENST00000378302:exon9:c.C951A:p.S317S,ENSG00000136144:ENST00000546015:exon9:c.C951A:p.S317S NA NA 13q14.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 NA NA rs3751382 0.26 0.26 0.262 0.312899 0.167 0.2788 0.1311 0.5023 0.3712 0.17 0.26 0.16 0.49 0.2215 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228805 NA NA 0.146744 0.451203 NA 0.42 NA 6.1314226 1039 1 200959302 200959302 G A exonic KIF21B NA synonymous SNV KIF21B:NM_001252100:exon20:c.C2994T:p.D998D,KIF21B:NM_001252102:exon20:c.C2994T:p.D998D,KIF21B:NM_001252103:exon20:c.C2994T:p.D998D,KIF21B:NM_017596:exon20:c.C2994T:p.D998D exonic ENSG00000116852 NA synonymous SNV ENSG00000116852:ENST00000332129:exon20:c.C2994T:p.D998D,ENSG00000116852:ENST00000360529:exon20:c.C2994T:p.D998D,ENSG00000116852:ENST00000422435:exon20:c.C2994T:p.D998D,ENSG00000116852:ENST00000461742:exon20:c.C2994T:p.D998D Score=591;Name=lod=337 NA 1q32.1 NA NA NA NA rs2297911 0.26 0.26 0.262 0.263778 0.1541 0.2976 0.2032 0.4531 0.1288 0.16 0.32 0.17 0.41 0.2033 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022903 NA NA 0.178488 0.423059 NA 0.225 NA 6.1307786 1039 3 112727184 112727184 A T exonic C3orf17 NA nonsynonymous SNV C3orf17:NM_015412:exon8:c.T1069A:p.F357I exonic ENSG00000163608 NA nonsynonymous SNV ENSG00000163608:ENST00000383675:exon6:c.T859A:p.F287I,ENSG00000163608:ENST00000393857:exon7:c.T661A:p.F221I,ENSG00000163608:ENST00000314400:exon8:c.T1069A:p.F357I NA NA 3q13.2 NA NA Name=24 NA rs2306857 0.53 0.53 0.491 0.496206 0.7584 0.3512 0.7363 0.2065 0.5971 0.76 0.35 0.73 0.22 0.6698 0.77 0.38 T 0.419 B 0.261 B 0.009 N 0.873 P 1.52 L 1.49 T -1.024 T 0.000 T 0.081 0.764 8.042 0.155 0.116 0.291 4.365 0.763993 NA 0.53 0.774767 0.298457 NA 0.543 NA 6.1303664 1039 11 8707083 8707083 G A ncRNA_exonic SNORA45 NA NA NA ncRNA_exonic ENSG00000212607 NA NA NA NA NA 11p15.4 NA Name=Pol2-4H8 Name=9 NA rs2073686 0.19 0.19 0.16 0.183107 0.1779 0.2708 0.1715 0.0946 0.226 0.19 0.25 0.21 0.09 0.181 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647228 NA NA 0.177906 0.108124 NA 0.181 NA 6.1298606 1039 8 145741702 145741702 C G exonic RECQL4 NA nonsynonymous SNV RECQL4:NM_004260:exon5:c.G801C:p.E267D exonic ENSG00000160957 NA nonsynonymous SNV ENSG00000160957:ENST00000428558:exon5:c.G801C:p.E267D NA NA 8q24.3 NA NA NA NA rs4244612 0.42 0.42 0.378 0.447684 0.3827 0.4821 0.464 0.4198 0.5051 0.39 0.43 0.49 0.41 0.4377 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733567 NA 0.2 0.383245 0.410061 NA 0.362 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080899.2;CLNDSDB=.;CLNDSDBID=. 6.1296884 1039 2 101010082 101010082 G C exonic CHST10 NA synonymous SNV CHST10:NM_004854:exon7:c.C696G:p.T232T exonic ENSG00000115526 NA synonymous SNV ENSG00000115526:ENST00000264249:exon7:c.C696G:p.T232T,ENSG00000115526:ENST00000409701:exon7:c.C696G:p.T232T,ENSG00000115526:ENST00000542617:exon7:c.C840G:p.T280T Score=568;Name=lod=272 NA 2q11.2 Score=723;Name=V$PAX4_04 NA NA NA rs3748930 0.61 0.61 0.59 0.605831 0.499 0.8065 0.5778 0.6263 0.501 0.5 0.8 0.53 0.62 0.5427 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961266 NA NA 0.495349 0.626872 NA 0.572 NA 6.1296176 1039 1 85787334 85787334 C T intronic DDAH1 NA NA NA ncRNA_intronic ENSG00000223653 NA NA NA NA NA 1p22.3 NA Name=BATF Name=91 NA rs1498374 0.14 0.14 0.121 0.123802 0.2038 0.1567 0.1945 0.0189 0.0992 0.21 0.15 0.17 0.01 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290077 NA NA NA NA NA 0.123 NA 6.1295333 1039 10 72358655 72358655 G A exonic PRF1 NA synonymous SNV PRF1:NM_001083116:exon3:c.C822T:p.A274A,PRF1:NM_005041:exon3:c.C822T:p.A274A exonic ENSG00000180644 NA synonymous SNV ENSG00000180644:ENST00000373209:exon3:c.C822T:p.A274A,ENSG00000180644:ENST00000441259:exon3:c.C822T:p.A274A NA NA 10q22.1 NA Name=HMGN3,GABP NA NA rs885821 0.13 0.13 0.126 0.11262 0.1988 0.1101 0.1513 0.0537 0.0787 0.21 0.11 0.11 0.05 0.1582 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930642 NA NA 0.180814 0.083522 NA 0.08 NA 6.1288526 1039 10 12071397 12071397 G A exonic UPF2 NA synonymous SNV UPF2:NM_015542:exon3:c.C492T:p.L164L,UPF2:NM_080599:exon3:c.C492T:p.L164L exonic ENSG00000151461 NA synonymous SNV ENSG00000151461:ENST00000356352:exon2:c.C492T:p.L164L,ENSG00000151461:ENST00000357604:exon3:c.C492T:p.L164L,ENSG00000151461:ENST00000397053:exon3:c.C492T:p.L164L Score=695;Name=lod=893 NA 10p14 NA NA NA NA rs11257490 0.28 0.28 0.285 0.261781 0.161 0.4435 0.2507 0.2814 0.1595 0.16 0.47 0.22 0.28 0.2092 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.246138 NA NA 0.167791 0.264639 NA 0.21 NA 6.1286756 1039 9 140638416 140638416 G A exonic EHMT1 NA synonymous SNV EHMT1:NM_001145527:exon6:c.G1044A:p.S348S,EHMT1:NM_024757:exon6:c.G1044A:p.S348S exonic ENSG00000181090 NA synonymous SNV ENSG00000181090:ENST00000334856:exon6:c.G951A:p.S317S,ENSG00000181090:ENST00000460843:exon6:c.G1044A:p.S348S,ENSG00000181090:ENST00000462484:exon6:c.G1044A:p.S348S NA NA 9q34.3 NA NA NA NA rs1129767 0.15 0.15 0.116 0.152356 0.167 0.1012 0.3862 0.0068 0.2209 0.16 0.1 0.39 0.02 0.1925 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155321 NA NA 0.178721 0.038357 NA 0.116 CLINSIG=non-pathogenic|other;CLNDBN=Chromosome_9q_deletion_syndrome|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000055953.1|RCV000082212.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK47079:C0795833:610253:ORPHA261494|. 6.1284456 1039 2 132200529 132200529 A G ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=774;Name=lod=1864 NA 2q21.1 NA NA NA NA rs71345555 0.37 0.37 0.201 0.38758 0.2326 0.7589 0.5259 0.2035 0.3149 0.21 0.68 0.43 0.2 0.3058 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713014 NA NA NA NA NA 0.13 CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000065067.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 6.1282666 1039 7 100017454 100017454 G A exonic ZCWPW1 NA synonymous SNV ZCWPW1:NM_001258008:exon4:c.C81T:p.Y27Y,ZCWPW1:NM_017984:exon4:c.C81T:p.Y27Y exonic ENSG00000078487 NA synonymous SNV ENSG00000078487:ENST00000360951:exon4:c.C81T:p.Y27Y,ENSG00000078487:ENST00000398027:exon4:c.C81T:p.Y27Y NA NA 7q22.1 NA Name=EBF1_(C-8),EBF NA NA rs7783159 0.1 0.1 0.081 0.0874601 0.1938 0.0278 0.1066 0.025 0.1104 0.19 0.02 0.1 0.03 0.1482 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.729017 NA NA 0.196429 0.0586 NA 0.116 NA 6.1282376 1039 5 159344461 159344461 G A exonic ADRA1B NA synonymous SNV ADRA1B:NM_000679:exon1:c.G549A:p.G183G exonic ENSG00000170214 NA synonymous SNV ENSG00000170214:ENST00000306675:exon1:c.G549A:p.G183G Score=566;Name=lod=265 NA 5q33.3 NA NA NA NA rs3729604 0.22 0.22 0.224 0.201877 0.1759 0.3482 0.1931 0.1679 0.1299 0.19 0.37 0.18 0.15 0.1858 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090306 NA NA 0.176977 0.159555 ID=COSM150006;OCCURENCE=1(stomach) 0.159 NA 6.1279896 1039 6 143091769 143091769 G A exonic HIVEP2 NA synonymous SNV HIVEP2:NM_006734:exon5:c.C4107T:p.V1369V exonic ENSG00000010818 NA synonymous SNV ENSG00000010818:ENST00000012134:exon3:c.C4107T:p.V1369V,ENSG00000010818:ENST00000367604:exon4:c.C4107T:p.V1369V,ENSG00000010818:ENST00000367603:exon5:c.C4107T:p.V1369V NA NA 6q24.2 Score=894;Name=V$OCT1_05 NA NA NA rs34947356 0.12 0.12 0.13 0.140375 0.1948 0.0794 0.1124 0.0991 0.2229 0.19 0.05 0.13 0.1 0.1597 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327073 NA NA 0.184385 0.098974 NA 0.087 NA 6.1277816 1039 10 5005549 5005549 G C UTR5 AKR1C1 NM_001353:c.-88G>C NA NA UTR5 ENSG00000187134 ENST00000434459:c.-88G>C,ENST00000380872:c.-88G>C NA NA NA NA 10p15.1 NA Name=Pol2,TAF1,NF-YB,Sin3Ak-20,Pol2(b),TBP,GTF2B,HEY1 Name=77 NA rs7069696 0.16 0.16 0.091 0.145966 0.2058 0.2312 0.1326 0.0492 0.137 0.19 0.23 0.16 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257426 NA NA NA NA ID=COSN163529;OCCURENCE=1(NS) 0.014 NA 6.1275334 1040 19 41220529 41220529 C T exonic ADCK4 NA synonymous SNV ADCK4:NM_001142555:exon2:c.G9A:p.L3L,ADCK4:NM_024876:exon2:c.G9A:p.L3L exonic ENSG00000123815 NA synonymous SNV ENSG00000123815:ENST00000594490:exon1:c.G9A:p.L3L,ENSG00000123815:ENST00000601304:exon1:c.G9A:p.L3L,ENSG00000123815:ENST00000243583:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000324464:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000450541:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000593723:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000594084:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000594720:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000596357:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000599643:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000600707:exon2:c.G9A:p.L3L,ENSG00000123815:ENST00000601967:exon2:c.G9A:p.L3L Score=355;Name=lod=37 NA 19q13.2 NA NA NA NA rs11673492 0.13 0.13 0.134 0.0992412 0.1978 0.003 0.0922 0.1324 0.0573 0.21 0.01 0.11 0.16 0.1513 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632161 NA NA 0.192827 0.129823 NA 0.145 NA 6.1247396 1040 16 14397924 14397924 T C downstream MIR193B NA NA NA ncRNA_intronic ENSG00000262454 NA NA NA NA NA 16p13.12 NA Name=Pol2,EBF,Egr-1 Name=75 NA rs112887255 0.01 0.01 0.006 0.00579073 0.0149 NA 0.013 0.003 0.001 0.01 NA 0.01 0.0041 0.0114 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459844 1.459844 NA 0.016052 0.004783 NA NA NA 6.1243146 1040 1 160393905 160393905 A G exonic VANGL2 NA synonymous SNV VANGL2:NM_020335:exon7:c.A1137G:p.K379K exonic ENSG00000162738 NA synonymous SNV ENSG00000162738:ENST00000368061:exon7:c.A1137G:p.K379K Score=703;Name=lod=960 NA 1q23.2 Score=800;Name=V$OLF1_01 NA NA NA rs12086448 0.54 0.54 0.533 0.576677 0.497 0.371 0.4524 0.8003 0.6564 0.5 0.41 0.48 0.79 0.5214 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120571 NA NA 0.525814 0.77054 ID=COSM146665;OCCURENCE=1(stomach) 0.565 NA 6.1224526 1040 17 10404046 10404046 G A exonic MYH1 NA synonymous SNV MYH1:NM_005963:exon28:c.C3762T:p.R1254R exonic ENSG00000109061 NA synonymous SNV ENSG00000109061:ENST00000226207:exon28:c.C3762T:p.R1254R Score=511;Name=lod=159 NA 17p13.1 NA NA NA NA rs17811250 0.11 0.11 0.087 0.0694888 0.2266 0.001 0.1009 0.0182 0.0256 0.23 NA 0.12 0.03 0.1319 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441431 NA NA 0.186047 0.038357 NA 0.087 NA 6.1221196 1040 7 44553238 44553238 A G exonic NPC1L1 NA synonymous SNV NPC1L1:NM_001101648:exon19:c.T3807C:p.V1269V,NPC1L1:NM_013389:exon20:c.T3888C:p.V1296V exonic ENSG00000015520 NA synonymous SNV ENSG00000015520:ENST00000546276:exon18:c.T3669C:p.V1223V,ENSG00000015520:ENST00000381160:exon19:c.T3807C:p.V1269V,ENSG00000015520:ENST00000289547:exon20:c.T3888C:p.V1296V Score=321;Name=lod=27 NA 7p13 NA NA NA NA rs217434 0.13 0.13 0.11 0.116414 0.1789 0.005 0.1153 0.1483 0.1247 0.17 0.01 0.14 0.19 0.1651 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.027835 NA NA 0.201512 0.16818 NA 0.116 NA 6.1211546 1040 7 142499071 142499071 T C intergenic PRSS3P2,EPHB6 dist=16672;dist=53721 NA NA exonic ENSG00000211772 NA unknown UNKNOWN NA NA 7q34 Score=908;Name=V$MEIS1_01 Name=ZBTB7A_(SC-34508) Name=7 NA rs1042960 NA NA 0.549 NA NA NA NA NA NA NA NA NA NA 0.5211 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335018 NA NA 0.524772 0.609086 NA 0.384 NA 6.1207947 1040 22 37499386 37499386 C T exonic TMPRSS6 NA synonymous SNV TMPRSS6:NM_153609:exon2:c.G99A:p.P33P exonic ENSG00000187045 NA synonymous SNV ENSG00000187045:ENST00000423761:exon1:c.G72A:p.P24P,ENSG00000187045:ENST00000346753:exon2:c.G99A:p.P33P,ENSG00000187045:ENST00000381792:exon2:c.G72A:p.P24P,ENSG00000187045:ENST00000406725:exon2:c.G72A:p.P24P,ENSG00000187045:ENST00000406856:exon2:c.G72A:p.P24P,ENSG00000187045:ENST00000442782:exon2:c.G99A:p.P33P Score=381;Name=lod=47 NA 22q12.3 NA NA NA NA rs11704654 0.16 0.16 0.172 0.151558 0.1879 0.131 0.1124 0.1528 0.1616 0.19 0.14 0.14 0.17 0.1639 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514649 NA NA 0.194302 0.148207 NA 0.225 NA 6.1205646 1040 12 93147907 93147907 A T exonic PLEKHG7 NA synonymous SNV PLEKHG7:NM_001004330:exon6:c.A357T:p.P119P exonic ENSG00000187510 NA synonymous SNV ENSG00000187510:ENST00000344636:exon6:c.A357T:p.P119P Score=478;Name=lod=117 NA 12q22 NA Name=Max NA NA rs9669519 0.65 0.65 0.633 0.652756 0.4861 0.8919 0.7017 0.5847 0.635 0.49 0.9 0.68 0.57 0.5704 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418554 NA NA 0.489651 0.557649 NA 0.507 NA 6.1205156 1040 6 143090734 143090734 T C exonic HIVEP2 NA synonymous SNV HIVEP2:NM_006734:exon5:c.A5142G:p.G1714G exonic ENSG00000010818 NA synonymous SNV ENSG00000010818:ENST00000012134:exon3:c.A5142G:p.G1714G,ENSG00000010818:ENST00000367604:exon4:c.A5142G:p.G1714G,ENSG00000010818:ENST00000367603:exon5:c.A5142G:p.G1714G Score=317;Name=lod=26 NA 6q24.2 NA NA NA NA rs34530989 0.12 0.12 0.123 0.140575 0.1968 0.0804 0.1124 0.0968 0.2239 0.19 0.05 0.13 0.09 0.161 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083236 NA NA 0.188395 0.100482 NA 0.08 NA 6.1204716 1040 11 62848445 62848445 A G exonic SLC22A24 NA synonymous SNV SLC22A24:NM_001136506:exon9:c.T1545C:p.L515L exonic ENSG00000197658 NA synonymous SNV ENSG00000197658:ENST00000417740:exon9:c.T1545C:p.L515L Score=317;Name=lod=26 NA 11q12.3 NA Name=USF-1 NA NA rs11231340 0.46 0.46 0.457 0.44369 0.5109 0.4196 0.4914 0.3442 0.5 0.5 0.47 0.46 0.37 0.5037 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170367 NA NA 0.531741 0.354769 ID=COSM467168;OCCURENCE=1(kidney) 0.5 NA 6.1203256 1040 12 13155339 13155339 C A ncRNA_exonic HTR7P1 NA NA NA ncRNA_exonic ENSG00000183935 NA NA NA Score=686;Name=lod=817 NA 12p13.1 NA Name=E2F6_(H-50) NA NA rs3825272 0.35 0.35 0.304 0.333267 0.5467 0.2173 0.4337 0.0726 0.5143 0.56 0.22 0.45 0.09 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264644 NA NA NA NA NA 0.29 NA 6.1199666 1040 15 23021238 23021238 C T exonic NIPA2 NA synonymous SNV NIPA2:NM_001008892:exon2:c.G99A:p.K33K,NIPA2:NM_001008894:exon2:c.G99A:p.K33K,NIPA2:NM_001008860:exon3:c.G99A:p.K33K,NIPA2:NM_001184888:exon3:c.G99A:p.K33K,NIPA2:NM_030922:exon4:c.G99A:p.K33K,NIPA2:NM_001184889:exon6:c.G99A:p.K33K exonic ENSG00000140157 NA synonymous SNV ENSG00000140157:ENST00000398013:exon2:c.G99A:p.K33K,ENSG00000140157:ENST00000539711:exon2:c.G99A:p.K33K,ENSG00000140157:ENST00000359727:exon3:c.G99A:p.K33K,ENSG00000140157:ENST00000398014:exon3:c.G99A:p.K33K,ENSG00000140157:ENST00000560039:exon3:c.G99A:p.K33K,ENSG00000140157:ENST00000337451:exon4:c.G99A:p.K33K Score=689;Name=lod=845 NA 15q11.2 NA NA NA NA rs7170838 0.23 0.23 0.165 0.225639 0.1799 0.2421 0.3112 0.2262 0.1943 0.17 0.26 0.28 0.23 0.2074 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012833 NA NA 0.159535 0.220835 ID=COSM1179596;OCCURENCE=1(prostate) 0.167 NA 6.1198316 1040 11 102573569 102573569 C A exonic MMP27 NA synonymous SNV MMP27:NM_022122:exon4:c.G534T:p.V178V exonic ENSG00000137675 NA synonymous SNV ENSG00000137675:ENST00000260229:exon4:c.G534T:p.V178V Score=355;Name=lod=37 NA 11q22.2 NA NA NA NA rs3809018 0.12 0.12 0.123 0.108227 0.1789 0.1081 0.1859 0.0076 0.1166 0.2 0.1 0.15 0.01 0.1698 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674903 NA NA 0.198186 0.039265 NA 0.029 NA 6.1197806 1040 16 1574863 1574863 G A exonic IFT140 NA synonymous SNV IFT140:NM_014714:exon23:c.C2919T:p.A973A exonic ENSG00000187535 NA synonymous SNV ENSG00000187535:ENST00000361339:exon5:c.C501T:p.A167A,ENSG00000187535:ENST00000426508:exon23:c.C2919T:p.A973A NA NA 16p13.3 NA NA NA NA rs2235640 0.21 0.21 0.231 0.23103 0.171 0.3214 0.1268 0.239 0.2628 0.18 0.3 0.13 0.24 0.1985 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688472 NA NA 0.177791 0.208276 NA 0.225 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117259.2;CLNDSDB=.;CLNDSDBID=. 6.1193756 1040 8 67369355 67369355 G C exonic ADHFE1 NA synonymous SNV ADHFE1:NM_144650:exon12:c.G1116C:p.T372T exonic ENSG00000147576 NA synonymous SNV ENSG00000147576:ENST00000396623:exon12:c.G1116C:p.T372T,ENSG00000147576:ENST00000415254:exon13:c.G972C:p.T324T NA NA 8q13.1 Score=886;Name=V$TAL1BETAE47_01 NA NA NA rs2555588 0.14 0.14 0.166 0.136182 0.2078 NA 0.1542 0.2141 0.0849 0.2 NA 0.16 0.23 0.1585 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.554241 NA NA 0.181628 0.227644 NA 0.159 NA 6.1187386 1040 12 5603935 5603935 C T exonic NTF3 NA synonymous SNV NTF3:NM_002527:exon1:c.C555T:p.P185P,NTF3:NM_001102654:exon2:c.C594T:p.P198P exonic ENSG00000185652 NA synonymous SNV ENSG00000185652:ENST00000331010:exon1:c.C555T:p.P185P,ENSG00000185652:ENST00000423158:exon2:c.C594T:p.P198P Score=493;Name=lod=134 NA 12p13.31 NA NA NA NA rs10849277 0.1 0.1 0.101 0.106629 0.2048 0.0228 0.0937 0.0257 0.2106 0.2 0.02 0.12 0.02 0.1542 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792539 NA NA 0.188953 0.058783 NA 0.232 NA 6.1187136 1040 5 153783753 153783753 C T exonic GALNT10 NA synonymous SNV GALNT10:NM_198321:exon8:c.C1146T:p.A382A exonic ENSG00000164574 NA synonymous SNV ENSG00000164574:ENST00000377657:exon1:c.C159T:p.A53A,ENSG00000164574:ENST00000377661:exon7:c.C960T:p.A320A,ENSG00000164574:ENST00000297107:exon8:c.C1146T:p.A382A NA NA 5q33.2 Score=897;Name=V$AP1_01 NA NA NA rs6580076 0.24 0.24 0.256 0.285343 0.1571 0.1637 0.1585 0.5083 0.3313 0.15 0.17 0.18 0.5 0.2203 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0188 NA NA 0.171047 0.439174 ID=COSM150004;OCCURENCE=1(stomach) 0.21 NA 6.1182196 1040 17 66364749 66364749 T C exonic ARSG NA synonymous SNV ARSG:NM_001267727:exon7:c.T765C:p.P255P,ARSG:NM_014960:exon7:c.T765C:p.P255P exonic ENSG00000141337 NA synonymous SNV ENSG00000141337:ENST00000452479:exon6:c.T273C:p.P91P,ENSG00000141337:ENST00000448504:exon7:c.T765C:p.P255P NA NA 17q24.2 NA Name=AP-2alpha,AP-2gamma Name=5 NA rs1558877 0.48 0.48 0.435 0.511382 0.506 0.2708 0.6167 0.6581 0.4918 0.5 0.29 0.58 0.6 0.5229 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272183 NA NA 0.520698 0.637767 NA 0.565 NA 6.1170686 1040 3 183900729 183900729 T C intronic AP2M1 NA NA NA exonic ENSG00000161203 NA nonsynonymous SNV ENSG00000161203:ENST00000442686:exon3:c.T316C:p.C106R NA NA 3q27.1 NA NA NA NA rs843365 0.51 0.51 0.473 0.528754 0.4771 0.6012 0.4481 0.5136 0.5849 0.45 0.62 0.45 0.51 0.5726 0.62 . . . . . . . . 1.000 P . . . . -0.942 T 0.000 T 0.038 -1.159 0.096 -2.47 -0.936 -0.008 4.705 -1.158879 NA 0.9 NA NA NA 0.428 NA 6.1169667 1040 6 158497717 158497717 T C exonic SYNJ2 NA synonymous SNV SYNJ2:NM_001178088:exon16:c.T1641C:p.V547V,SYNJ2:NM_003898:exon17:c.T2352C:p.V784V exonic ENSG00000078269 NA synonymous SNV ENSG00000078269:ENST00000355585:exon17:c.T2352C:p.V784V,ENSG00000078269:ENST00000367121:exon17:c.T2352C:p.V784V,ENSG00000078269:ENST00000367122:exon17:c.T2352C:p.V784V Score=366;Name=lod=41 NA 6q25.3 Score=872;Name=V$ATF6_01 NA NA NA rs2296508 0.57 0.57 0.586 0.578275 0.5139 0.5883 0.3545 0.7587 0.5491 0.53 0.55 0.4 0.8 0.5215 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554579 NA NA 0.514767 0.704494 NA 0.587 NA 6.1164996 1040 8 19677915 19677915 G A exonic INTS10 NA synonymous SNV INTS10:NM_018142:exon4:c.G327A:p.R109R exonic ENSG00000104613 NA synonymous SNV ENSG00000104613:ENST00000397977:exon4:c.G327A:p.R109R NA NA 8p21.3 NA Name=MafK_(SC-477),MafF_(M8194) NA NA rs7822495 0.24 0.24 0.244 0.24381 0.169 0.2927 0.2781 0.2784 0.1994 0.17 0.28 0.27 0.27 0.2033 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.302404 1.302404 NA 0.178659 0.261918 NA 0.188 NA 6.1157076 1040 19 8376431 8376431 G A exonic NDUFA7 NA synonymous SNV NDUFA7:NM_005001:exon4:c.C300T:p.P100P exonic ENSG00000167774,ENSG00000267855 NA synonymous SNV ENSG00000267855:ENST00000601101:exon3:c.C150T:p.P50P,ENSG00000267855:ENST00000301457:exon4:c.C300T:p.P100P,ENSG00000267855:ENST00000593729:exon4:c.C300T:p.P100P,ENSG00000167774:ENST00000598884:exon4:c.C300T:p.P100P NA NA 19p13.2 NA NA Name=4 NA rs561 0.17 0.17 0.142 0.138179 0.1859 0.2083 0.2666 0.0303 0.0716 0.19 0.2 0.27 0.04 0.175 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.156721 NA NA 0.190112 0.055447 NA 0.203 NA 6.1156546 1040 6 74190448 74190448 T C exonic MTO1 NA synonymous SNV MTO1:NM_001123226:exon7:c.T1180C:p.L394L,MTO1:NM_012123:exon7:c.T1180C:p.L394L,MTO1:NM_133645:exon8:c.T1255C:p.L419L exonic ENSG00000135297 NA synonymous SNV ENSG00000135297:ENST00000445187:exon2:c.T178C:p.L60L,ENSG00000135297:ENST00000415954:exon7:c.T1180C:p.L394L,ENSG00000135297:ENST00000498286:exon7:c.T1180C:p.L394L,ENSG00000135297:ENST00000370300:exon8:c.T1255C:p.L419L,ENSG00000135297:ENST00000370305:exon8:c.T1033C:p.L345L Score=576;Name=lod=291 NA 6q13 NA NA NA NA rs2036039 0.2 0.2 0.192 0.208067 0.1849 0.2123 0.1758 0.2693 0.1677 0.19 0.2 0.15 0.25 0.1871 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202747 NA NA 0.179186 0.258965 ID=COSM150124;OCCURENCE=1(stomach) 0.152 NA 6.1154806 1040 1 206327510 206327510 T C exonic CTSE NA synonymous SNV CTSE:NM_001910:exon6:c.T699C:p.F233F,CTSE:NM_148964:exon6:c.T699C:p.F233F exonic ENSG00000196188 NA synonymous SNV ENSG00000196188:ENST00000432969:exon5:c.T474C:p.F158F,ENSG00000196188:ENST00000358184:exon6:c.T699C:p.F233F,ENSG00000196188:ENST00000360218:exon6:c.T699C:p.F233F,ENSG00000196188:ENST00000361052:exon6:c.T714C:p.F238F Score=439;Name=lod=81 NA 1q32.1 NA NA NA NA rs61742539 0.19 0.19 0.174 0.175519 0.2038 0.0169 0.1628 0.3744 0.0501 0.2 0.01 0.2 0.4 0.1653 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021449 NA NA 0.182326 0.367 NA 0.261 NA 6.1152406 1040 14 74206658 74206658 G A exonic ELMSAN1 NA synonymous SNV ELMSAN1:NM_001043318:exon2:c.C54T:p.F18F,ELMSAN1:NM_194278:exon2:c.C54T:p.F18F exonic ENSG00000156030 NA synonymous SNV ENSG00000156030:ENST00000423556:exon1:c.C54T:p.F18F,ENSG00000156030:ENST00000286523:exon2:c.C54T:p.F18F,ENSG00000156030:ENST00000394071:exon2:c.C54T:p.F18F,ENSG00000156030:ENST00000421708:exon2:c.C54T:p.F18F,ENSG00000156030:ENST00000435371:exon2:c.C54T:p.F18F Score=562;Name=lod=256 NA 14q24.3 NA NA NA NA rs758773 0.14 0.14 0.123 0.152955 0.1839 0.1419 0.1182 0.0507 0.2955 0.18 0.15 0.13 0.06 0.174 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176427 NA NA 0.193605 0.064911 NA 0.101 NA 6.1151616 1041 3 44612050 44612050 C T exonic ZKSCAN7 NA nonsynonymous SNV ZKSCAN7:NM_018651:exon6:c.C1448T:p.T483I exonic ENSG00000196345 NA nonsynonymous SNV ENSG00000196345:ENST00000447279:exon5:c.C995T:p.T332I,ENSG00000196345:ENST00000273320:exon6:c.C1448T:p.T483I,ENSG00000196345:ENST00000426540:exon6:c.C1448T:p.T483I NA NA 3p21.31 NA NA NA NA rs9873604 0.76 0.76 0.742 0.752196 0.7545 0.8343 0.7305 0.6694 0.7924 0.73 0.86 0.74 0.69 0.7433 0.86 1 T 0.0 B 0.001 B 0.113 N 1.000 P 0.755 N 3.17 T -0.976 T 0.000 T 0.018 -2.273 0.004 -1.03 -0.736 -2.303 5.453 -2.273462 NA 1 0.720698 0.672946 NA 0.63 NA 6.1148354 1041 3 183660585 183660585 G A exonic ABCC5 NA synonymous SNV ABCC5:NM_005688:exon25:c.C3624T:p.L1208L exonic ENSG00000114770 NA synonymous SNV ENSG00000114770:ENST00000265586:exon23:c.C3495T:p.L1165L,ENSG00000114770:ENST00000334444:exon25:c.C3624T:p.L1208L Score=655;Name=lod=613 NA 3q27.1 NA NA NA NA rs3749442 0.25 0.25 0.23 0.249002 0.1769 0.4365 0.2709 0.1944 0.1881 0.18 0.41 0.2 0.21 0.201 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010328 NA NA 0.174187 0.163556 NA 0.174 NA 6.1145796 1041 17 4608458 4608458 G A upstream PELP1 NA NA NA ncRNA_exonic ENSG00000213939 NA NA NA Score=715;Name=lod=1070 NA 17p13.2 NA Name=Pol2 NA NA rs9895782 0.04 0.04 0.022 0.038139 0.0527 NA 0.0677 0.028 0.0552 0.05 NA 0.07 0.04 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029498 NA NA NA NA NA 0.014 NA 6.1139666 1041 16 70016416 70016416 T A ncRNA_intronic PDXDC2P NA NA NA exonic ENSG00000226232 NA stopgain ENSG00000226232:ENST00000532298:exon4:c.A382T:p.R128X NA NA 16q22.1 NA NA NA NA rs3748385 0.23 0.23 0.174 0.184904 0.4046 0.0833 0.3242 0.0204 0.1871 0.41 0.1 0.33 0.02 0.3157 0.41 0 D . . . . . . . . . . . . . . . . . 1.329 10.36 -1.32 -0.323 0.033 . 1.328875 1.328875 NA NA NA NA NA NA 6.1130333 1041 7 142510350 142510350 G A intergenic PRSS3P2,EPHB6 dist=27951;dist=42442 NA NA exonic ENSG00000237254 NA nonsynonymous SNV ENSG00000237254:ENST00000417977:exon2:c.C256T:p.P86S NA NA 7q34 NA Name=GATA-1,Pol2 Name=20 NA rs17268 0.17 0.17 0.147 0.14357 0.2624 0.1121 0.2176 0.0469 0.1319 0.27 0.11 0.23 0.04 0.2216 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366516 NA 0.03 0.236449 0.069939 NA 0.123 NA 6.1128844 1041 1 20827216 20827216 C T exonic MUL1 NA synonymous SNV MUL1:NM_024544:exon4:c.G1026A:p.A342A exonic ENSG00000090432 NA synonymous SNV ENSG00000090432:ENST00000264198:exon4:c.G1026A:p.A342A Score=525;Name=lod=181 NA 1p36.12 NA NA NA NA rs595980 0.1 0.1 0.096 0.0712859 0.1988 0.001 0.1023 0.0272 0.0501 0.19 0.0035 0.13 0.03 0.1515 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957375 NA NA 0.203488 0.06355 NA 0.13 NA 6.1128786 1041 9 140006202 140006202 G A exonic DPP7 NA synonymous SNV DPP7:NM_013379:exon11:c.C1212T:p.L404L exonic ENSG00000176978 NA stopgain ENSG00000176978:ENST00000470766:exon2:c.C109T:p.Q37X Score=333;Name=lod=30 NA 9q34.3 NA NA NA NA rs13631 0.51 0.51 0.476 0.514776 0.3946 0.6776 0.4971 0.5325 0.4591 0.39 0.69 0.5 0.51 0.4427 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081689 NA NA 0.383953 0.517022 NA 0.457 NA 6.1120803 1041 21 46077946 46077946 A G exonic KRTAP12-3 NA nonsynonymous SNV KRTAP12-3:NM_198697:exon1:c.A50G:p.H17R exonic ENSG00000205439 NA nonsynonymous SNV ENSG00000205439:ENST00000397907:exon1:c.A50G:p.H17R NA NA 21q22.3 NA NA NA NA rs9306111 0.77 0.77 0.764 0.789537 0.7624 0.6637 0.7507 0.9198 0.7986 0.77 0.64 0.77 0.92 0.7466 0.92 0.06 T 0.0 B 0.0 B . . 0.921 P . . 5.03 T -1.071 T 0.000 T 0.03 0.156 4.837 3.03 0.116 -0.359 3.338 0.155633 NA 0.09 0.712462 0.890367 NA 0.674 NA 6.1118714 1041 13 45563464 45563464 G C exonic NUFIP1 NA nonsynonymous SNV NUFIP1:NM_012345:exon1:c.C108G:p.S36R exonic ENSG00000083635 NA nonsynonymous SNV ENSG00000083635:ENST00000379161:exon1:c.C108G:p.S36R NA NA 13q14.12 NA Name=Max,Oct-2,EBF1_(C-8),CTCF,TAF1,ETS1,POU2F2,Pol2(phosphoS2),Pol2,E2F6,TAF7_(SQ-8),HEY1,NFKB,c-Myc,TBP,Pol2-4H8,HA-E2F1 NA NA rs1140993 0.55 0.55 0.526 0.51258 0.7744 0.5575 0.6441 0.1286 0.6227 0.77 0.58 0.63 0.12 0.6807 0.77 0.11 T 0.148 B 0.038 B 0.858 N 1.000 P 0.345 N 0.95 T -1.001 T 0.000 T 0.056 1.401 10.62 1.29 0.253 0.105 5.711 1.400964 1.400964 0.02 0.766667 0.227542 NA 0.457 NA 6.1115664 1041 15 34015013 34015013 G A exonic RYR3 NA synonymous SNV RYR3:NM_001036:exon44:c.G6717A:p.G2239G,RYR3:NM_001243996:exon44:c.G6717A:p.G2239G exonic ENSG00000198838 NA synonymous SNV ENSG00000198838:ENST00000389232:exon44:c.G6717A:p.G2239G,ENSG00000198838:ENST00000415757:exon44:c.G6717A:p.G2239G Score=393;Name=lod=53 NA 15q14 NA NA NA NA rs2293027 0.16 0.16 0.159 0.161142 0.1859 0.2351 0.0965 0.0772 0.2188 0.19 0.22 0.1 0.09 0.1851 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629424 NA NA 0.184528 0.086198 NA 0.094 NA 6.1111386 1041 5 5239921 5239921 C T exonic ADAMTS16 NA synonymous SNV ADAMTS16:NM_139056:exon16:c.C2406T:p.T802T exonic ENSG00000145536 NA synonymous SNV ENSG00000145536:ENST00000274181:exon16:c.C2406T:p.T802T NA NA 5p15.32 Score=763;Name=V$PAX6_01 NA NA NA rs11742341 0.1 0.1 0.099 0.114617 0.1928 0.0764 0.111 0.0061 0.2229 0.18 0.08 0.1 0.01 0.1675 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061267 NA NA 0.19579 0.033475 NA 0.188 NA 6.1105766 1041 3 13896284 13896284 C T exonic WNT7A NA synonymous SNV WNT7A:NM_004625:exon3:c.G315A:p.A105A exonic ENSG00000154764 NA synonymous SNV ENSG00000154764:ENST00000285018:exon3:c.G315A:p.A105A Score=485;Name=lod=125 NA 3p25.1 NA NA NA NA rs12639607 0.24 0.24 0.212 0.221446 0.17 0.5813 0.1916 0.0257 0.1892 0.18 0.55 0.15 0.04 0.2051 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408192 NA NA 0.181744 0.06128 ID=COSM445693;OCCURENCE=1(breast) 0.246 NA 6.1098226 1041 7 76112060 76112060 C T exonic DTX2 NA synonymous SNV DTX2:NM_001102596:exon2:c.C504T:p.F168F,DTX2:NM_001102595:exon3:c.C504T:p.F168F,DTX2:NM_001102594:exon4:c.C504T:p.F168F,DTX2:NM_020892:exon5:c.C504T:p.F168F exonic ENSG00000091073 NA synonymous SNV ENSG00000091073:ENST00000446820:exon2:c.C504T:p.F168F,ENSG00000091073:ENST00000413936:exon3:c.C504T:p.F168F,ENSG00000091073:ENST00000446600:exon3:c.C231T:p.F77F,ENSG00000091073:ENST00000430490:exon4:c.C504T:p.F168F,ENSG00000091073:ENST00000307569:exon5:c.C504T:p.F168F,ENSG00000091073:ENST00000324432:exon5:c.C504T:p.F168F Score=445;Name=lod=86 NA 7q11.23 Score=733;Name=V$LUN1_01 NA NA NA rs1638074 0.56 0.56 0.575 0.589657 0.507 0.5526 0.5893 0.6369 0.6493 0.5 0.54 0.56 0.67 0.5448 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259761 NA NA 0.505349 0.630731 NA 0.319 NA 6.1095176 1041 14 70634546 70634546 C T exonic SLC8A3 NA synonymous SNV SLC8A3:NM_033262:exon2:c.G594A:p.K198K,SLC8A3:NM_058240:exon2:c.G594A:p.K198K,SLC8A3:NM_182932:exon2:c.G594A:p.K198K,SLC8A3:NM_183002:exon2:c.G594A:p.K198K exonic ENSG00000100678 NA synonymous SNV ENSG00000100678:ENST00000528359:exon1:c.G594A:p.K198K,ENSG00000100678:ENST00000534137:exon1:c.G594A:p.K198K,ENSG00000100678:ENST00000356921:exon2:c.G594A:p.K198K,ENSG00000100678:ENST00000357887:exon2:c.G594A:p.K198K,ENSG00000100678:ENST00000381269:exon2:c.G594A:p.K198K,ENSG00000100678:ENST00000494208:exon2:c.G594A:p.K198K Score=467;Name=lod=105 NA 14q24.2 NA NA NA NA rs7161524 0.14 0.14 0.152 0.142372 0.2068 0.0089 0.1124 0.202 0.1544 0.2 0.01 0.12 0.21 0.1652 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232546 NA NA 0.185349 0.188379 NA 0.275 NA 6.1093176 1041 5 148989122 148989122 C T exonic ARHGEF37 NA synonymous SNV ARHGEF37:NM_001001669:exon4:c.C322T:p.L108L exonic ENSG00000183111 NA synonymous SNV ENSG00000183111:ENST00000333677:exon4:c.C322T:p.L108L Score=462;Name=lod=101 NA 5q32 Score=906;Name=V$STAT5B_01 NA NA NA rs2400891 0.41 0.41 0.403 0.377196 0.5507 0.3641 0.3343 0.2799 0.3742 0.55 0.37 0.36 0.3 0.4655 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609517 NA NA 0.541181 0.304908 ID=COSM149983;OCCURENCE=1(stomach) 0.5 NA 6.1092856 1041 17 37213317 37213317 C A ncRNA_exonic LOC100131347 NA NA NA ncRNA_exonic ENSG00000263818 NA NA NA NA NA 17q12 NA Name=POU2F2,HMGN3,E2F6_(H-50),TAF1,YY1_(C-20),E2F6,Mxi1_(bHLH),PU.1,Pol2,Oct-2,Pol2-4H8,ZNF263,Egr-1,SRF,HEY1,TBP,Nrf1 Name=147 NA rs4795338 0.52 0.52 0.477 0.551518 0.5577 0.503 0.6772 0.444 0.6513 0.55 0.46 0.62 0.45 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259416 NA 0.88 NA NA NA 0.449 NA 6.1089666 1041 17 8076667 8076667 T G UTR3 TMEM107 NM_183065:c.*854A>C,NM_032354:c.*854A>C NA NA UTR3 ENSG00000179029 ENST00000449985:c.*903A>C NA NA NA NA 17p13.1 NA Name=GATA2_(CG2-96),p300_(N-15),USF-1,MafK_(ab50322),SIX5,BCL3,eGFP-GATA2,HEY1,NFKB,c-Jun,Sin3Ak-20,Pol2-4H8,KAP1,ZNF263,RFX5_(N-494),STAT3,FOXA1_(C-20),Pol2(b),JunD,SIRT6,CHD2_(N-1250),BATF,CEBPB,CTCF,Oct-2,Max,FOXA1_(SC-101058),TAF7_(SQ-8),BCLAF1_(M33-P5B11),BCL11A,YY1_(C-20),BRCA1_(C-1863),TR4,GATA3_(SC-268),MEF2A,Mxi1_(bHLH),SP1,Pol2,POU2F2,HMGN3,MafF_(M8194),ETS1,GATA-1,TAF1,p300_(F-4),MafK_(SC-477) Name=147 NA rs79224651 0.12 0.12 0.125 0.0996406 0.2247 0.0308 0.1225 0.0469 0.0971 0.23 0.03 0.15 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.851423 NA NA NA NA NA 0.08 NA 6.1086334 1041 9 97365720 97365720 T C exonic FBP1 NA synonymous SNV FBP1:NM_000507:exon7:c.A960G:p.G320G,FBP1:NM_001127628:exon8:c.A960G:p.G320G exonic ENSG00000165140 NA synonymous SNV ENSG00000165140:ENST00000375326:exon7:c.A960G:p.G320G,ENSG00000165140:ENST00000415431:exon8:c.A960G:p.G320G Score=417;Name=lod=66 NA 9q22.32 NA Name=eGFP-JunD,YY1_(C-20),SMC3_(ab9263),RXRA,CTCF,Rad21,YY1,CTCF_(SC-5916),CTCF_(C-20),c-Myc Name=141 NA rs1769257 0.92 0.92 0.929 0.907149 0.8489 0.9563 0.9222 0.9826 0.8037 0.85 0.95 0.91 0.99 0.8637 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511828 NA NA 0.845465 0.963005 NA 0.957 NA 6.1086016 1041 22 31679110 31679110 G C exonic PIK3IP1 NA nonsynonymous SNV PIK3IP1:NM_052880:exon6:c.C752G:p.T251S exonic ENSG00000100100 NA nonsynonymous SNV ENSG00000100100:ENST00000487265:exon4:c.C515G:p.T172S,ENSG00000100100:ENST00000215912:exon6:c.C752G:p.T251S NA NA 22q12.2 Score=886;Name=V$SPZ1_01 NA NA NA rs2040533 0.82 0.82 0.847 0.845048 0.7266 0.876 0.7478 0.9856 0.8139 0.71 0.87 0.76 0.98 0.7734 0.98 1 T 0.0 B 0.0 B 0.060 N 0.997 P -1.7 N 0.98 T -0.984 T 0.000 T 0.018 -2.192 0.005 1.32 0.357 0.236 2.227 -2.192325 NA 1 0.724767 0.945075 NA 0.833 NA 6.1085664 1041 20 43252915 43252915 T C exonic ADA NA synonymous SNV ADA:NM_000022:exon6:c.A534G:p.V178V exonic ENSG00000196839 NA synonymous SNV ENSG00000196839:ENST00000372874:exon6:c.A534G:p.V178V,ENSG00000196839:ENST00000536532:exon6:c.A534G:p.V178V,ENSG00000196839:ENST00000537820:exon6:c.A534G:p.V178V Score=431;Name=lod=75 NA 20q13.12 NA NA NA NA rs244076 0.22 0.22 0.231 0.265775 0.1829 0.1548 0.1585 0.4735 0.2607 0.17 0.11 0.16 0.47 0.2057 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.326341 1.326341 NA 0.170116 0.401725 NA 0.225 NA 6.1079506 1041 4 155490832 155490832 C T exonic FGB NA synonymous SNV FGB:NM_001184741:exon7:c.C948T:p.Y316Y,FGB:NM_005141:exon7:c.C1125T:p.Y375Y exonic ENSG00000171564 NA synonymous SNV ENSG00000171564:ENST00000509493:exon5:c.C468T:p.Y156Y,ENSG00000171564:ENST00000302068:exon7:c.C1125T:p.Y375Y NA NA 4q31.3 NA NA Name=2 NA rs4681 0.16 0.16 0.121 0.13778 0.1998 0.2242 0.1455 0.0189 0.1401 0.21 0.18 0.19 0.02 0.1692 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.549912 NA NA 0.189884 0.049705 NA 0.138 NA 6.1077826 1041 14 74205878 74205878 C T exonic ELMSAN1 NA synonymous SNV ELMSAN1:NM_001043318:exon2:c.G834A:p.P278P,ELMSAN1:NM_194278:exon2:c.G834A:p.P278P exonic ENSG00000156030 NA synonymous SNV ENSG00000156030:ENST00000423556:exon1:c.G834A:p.P278P,ENSG00000156030:ENST00000451078:exon1:c.G300A:p.P100P,ENSG00000156030:ENST00000286523:exon2:c.G834A:p.P278P,ENSG00000156030:ENST00000394071:exon2:c.G834A:p.P278P,ENSG00000156030:ENST00000435371:exon2:c.G834A:p.P278P Score=553;Name=lod=235 NA 14q24.3 NA NA NA NA rs17782128 0.14 0.14 0.14 0.151757 0.1839 0.1409 0.1182 0.0469 0.2955 0.18 0.14 0.13 0.06 0.1813 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.590842 NA NA 0.193721 0.062415 NA 0.101 NA 6.1077456 1041 10 26357747 26357747 C T exonic MYO3A NA synonymous SNV MYO3A:NM_017433:exon12:c.C1104T:p.Y368Y exonic ENSG00000095777 NA synonymous SNV ENSG00000095777:ENST00000543632:exon11:c.C1104T:p.Y368Y,ENSG00000095777:ENST00000265944:exon12:c.C1104T:p.Y368Y Score=580;Name=lod=304 NA 10p12.1 NA NA NA NA rs35379457 0.31 0.31 0.324 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.44 0.25 0.3 0.2 0.4834 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766498 NA NA 0.514419 0.335679 ID=COSM1559312;OCCURENCE=3(central_nervous_system) NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039023.1;CLNDSDB=.;CLNDSDBID=. 6.1072476 1041 9 35043291 35043291 G T exonic C9orf131 NA nonsynonymous SNV C9orf131:NM_001040410:exon2:c.G560T:p.W187L,C9orf131:NM_001040411:exon2:c.G446T:p.W149L,C9orf131:NM_203299:exon2:c.G665T:p.W222L,C9orf131:NM_001040412:exon3:c.G521T:p.W174L exonic ENSG00000174038 NA nonsynonymous SNV ENSG00000174038:ENST00000312292:exon2:c.G665T:p.W222L,ENSG00000174038:ENST00000354479:exon2:c.G446T:p.W149L,ENSG00000174038:ENST00000378745:exon2:c.G560T:p.W187L,ENSG00000174038:ENST00000421362:exon3:c.G521T:p.W174L NA NA 9p13.3 NA NA NA NA rs615474 0.66 0.66 0.649 0.653954 0.7495 0.4484 0.8127 0.5991 0.729 0.75 0.49 0.81 0.62 0.7192 0.81 1 T 0.0 B 0.0 B 0.038 N 1.000 P -1.79 N 3.06 T -0.984 T 0.000 T 0.109 -1.444 0.02 2.8 0.448 0.361 3.602 -1.444217 NA 1 0.757674 0.623468 ID=COSM150598;OCCURENCE=1(stomach) 0.768 NA 6.1069594 1041 2 74687550 74687550 T C exonic WBP1 NA synonymous SNV WBP1:NM_012477:exon4:c.T552C:p.P184P exonic ENSG00000239779 NA synonymous SNV ENSG00000239779:ENST00000233615:exon4:c.T552C:p.P184P,ENSG00000239779:ENST00000409737:exon4:c.T543C:p.P181P,ENSG00000239779:ENST00000393972:exon5:c.T654C:p.P218P,ENSG00000239779:ENST00000428943:exon5:c.T729C:p.P243P Score=397;Name=lod=55 NA 2p13.1 NA NA NA NA rs8469 0.49 0.49 0.438 0.524161 0.1581 0.8214 0.3156 0.8275 0.3323 0.15 0.82 0.25 0.81 0.2712 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273371 NA NA 0.130844 0.700182 NA 0.304 NA 6.1065226 1041 1 197128726 197128726 G A exonic ZBTB41 NA synonymous SNV ZBTB41:NM_194314:exon10:c.C2493T:p.L831L exonic ENSG00000177888 NA synonymous SNV ENSG00000177888:ENST00000367405:exon10:c.C2493T:p.L831L NA NA 1q31.3 NA NA Name=13 NA rs12128631 0.29 0.29 0.219 0.297724 0.17 0.6716 0.4251 0.0265 0.32 0.16 0.65 0.34 0.04 0.2392 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149395 NA NA 0.151163 0.044712 NA 0.232 NA 6.1063036 1041 2 198950029 198950029 A G exonic PLCL1 NA synonymous SNV PLCL1:NM_006226:exon2:c.A1788G:p.Q596Q exonic ENSG00000115896 NA synonymous SNV ENSG00000115896:ENST00000437704:exon1:c.A1494G:p.Q498Q,ENSG00000115896:ENST00000428675:exon2:c.A1788G:p.Q596Q,ENSG00000115896:ENST00000487695:exon2:c.A1566G:p.Q522Q Score=508;Name=lod=155 NA 2q33.1 NA NA NA NA rs2228135 0.24 0.24 0.244 0.232029 0.1909 0.248 0.1931 0.3578 0.1155 0.18 0.25 0.21 0.33 0.1907 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441087 NA NA 0.178953 0.324557 NA 0.152 NA 6.1061136 1041 11 5989415 5989415 C A exonic OR56A5 NA nonsynonymous SNV OR56A5:NM_001146033:exon1:c.G310T:p.V104L ncRNA_exonic ENSG00000188691 NA NA NA Score=393;Name=lod=53 NA 11p15.4 NA NA NA NA rs7114672 NA NA NA 0.170927 0.1909 0.3462 0.2968 0.0159 0.09 NA NA NA NA 0.2038 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.615489 1.615489 0.03 NA NA NA 0.087 NA 6.1053 1041 17 18872581 18872581 C T intronic SLC5A10 NA NA NA UTR3 ENSG00000188522 ENST00000388995:c.*2091G>A NA NA NA NA 17p11.2 NA Name=GABP Name=7 NA rs2074272 0.09 0.09 0.085 0.144968 0.0616 0.0913 0.0476 0.1634 0.3303 0.05 0.11 0.06 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34123 NA NA NA NA NA 0.08 NA 6.1050667 1042 13 76423248 76423248 T C exonic LMO7 NA nonsynonymous SNV LMO7:NM_015842:exon24:c.T3485C:p.M1162T,LMO7:NM_005358:exon26:c.T3338C:p.M1113T exonic ENSG00000136153 NA nonsynonymous SNV ENSG00000136153:ENST00000526202:exon22:c.T3116C:p.M1039T,ENSG00000136153:ENST00000465261:exon24:c.T3485C:p.M1162T,ENSG00000136153:ENST00000321797:exon25:c.T3485C:p.M1162T,ENSG00000136153:ENST00000341547:exon26:c.T3338C:p.M1113T,ENSG00000136153:ENST00000357063:exon28:c.T4340C:p.M1447T,ENSG00000136153:ENST00000377534:exon28:c.T4340C:p.M1447T NA NA 13q22.2 NA NA NA NA rs7986131 0.67 0.67 0.67 0.686901 0.7624 0.5377 0.7651 0.6422 0.7679 0.75 0.5 0.77 0.67 0.7203 0.77 1 T 0.0 B 0.0 B 0.550 N 1.000 P -2.32 N 1.66 T -0.943 T 0.000 T 0.065 -2.684 0 2.35 -0.074 -0.870 8.707 -2.684288 NA 1 0.74686 0.66591 ID=COSM1367703,COSM1367702,COSM1367704;OCCURENCE=1(large_intestine) 0.623 NA 6.1037734 1042 18 14132402 14132402 G C UTR5 ZNF519 NM_145287:c.-126C>G NA NA UTR5 ENSG00000175322 ENST00000587419:c.-126C>G,ENST00000589498:c.-126C>G,ENST00000590202:c.-126C>G NA NA NA NA 18p11.21 NA Name=Pol2-4H8,c-Fos,Sin3Ak-20,HA-E2F1,HEY1,TBP,GABP,E2F4,NF-YA,TAF1,E2F6_(H-50),TAF7_(SQ-8),Pol2,SP1,PU.1,NF-YB,ELF1_(SC-631),CHD2_(N-1250) Name=148 NA rs9958799 0.16 0.16 0.127 0.182907 0.2296 0.0962 0.2406 0.0983 0.2975 0.23 0.08 0.22 0.11 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019524 NA NA NA NA NA 0.13 NA 6.1037334 1042 16 74664810 74664810 A T exonic RFWD3 NA synonymous SNV RFWD3:NM_018124:exon10:c.T1623A:p.P541P exonic ENSG00000168411 NA synonymous SNV ENSG00000168411:ENST00000361070:exon10:c.T1623A:p.P541P,ENSG00000168411:ENST00000571750:exon11:c.T1623A:p.P541P Score=598;Name=lod=359 NA 16q23.1 Score=859;Name=V$AP4_01 NA NA NA rs7188880 0.63 0.63 0.634 0.659345 0.493 0.7897 0.4323 0.8116 0.6513 0.47 0.78 0.46 0.83 0.5521 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.447261 1.447261 NA 0.518023 0.755005 NA 0.63 NA 6.1035436 1042 6 70064187 70064187 G A exonic BAI3 NA synonymous SNV BAI3:NM_001704:exon27:c.G3522A:p.S1174S exonic ENSG00000135298 NA synonymous SNV ENSG00000135298:ENST00000546190:exon5:c.G414A:p.S138S,ENSG00000135298:ENST00000238918:exon11:c.G1140A:p.S380S,ENSG00000135298:ENST00000370598:exon27:c.G3522A:p.S1174S Score=667;Name=lod=682 NA 6q13 NA NA NA NA rs2296974 0.19 0.19 0.189 0.180511 0.1909 0.121 0.2421 0.2511 0.092 0.19 0.12 0.22 0.26 0.177 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836147 NA NA 0.196628 0.259873 ID=COSM150119;OCCURENCE=1(stomach) 0.232 NA 6.1021386 1042 20 44452697 44452697 C A exonic TNNC2 NA synonymous SNV TNNC2:NM_003279:exon5:c.G384T:p.T128T exonic ENSG00000101470 NA synonymous SNV ENSG00000101470:ENST00000372555:exon5:c.G384T:p.T128T,ENSG00000101470:ENST00000372557:exon6:c.G339T:p.T113T Score=520;Name=lod=173 NA 20q13.12 NA Name=Pol2,ERalpha_a,USF-1 NA NA rs4629 0.45 0.45 0.42 0.404752 0.5378 0.5308 0.5476 0.1815 0.3384 0.56 0.53 0.49 0.16 0.4964 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662505 NA NA 0.530465 0.260554 NA 0.42 NA 6.1020016 1042 6 42932202 42932202 C T exonic PEX6 NA synonymous SNV PEX6:NM_000287:exon17:c.G2814A:p.E938E exonic ENSG00000124587 NA synonymous SNV ENSG00000124587:ENST00000304611:exon17:c.G2814A:p.E938E Score=389;Name=lod=51 NA 6p21.1 NA NA NA NA rs1129186 0.48 0.48 0.511 0.49361 0.5447 0.1687 0.428 0.7617 0.4601 0.55 0.19 0.43 0.76 0.4911 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884632 NA NA 0.52907 0.731276 ID=COSM1444601;OCCURENCE=1(large_intestine) 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078573.1;CLNDSDB=.;CLNDSDBID=. 6.1017966 1042 1 40036847 40036847 G C intronic PABPC4 NA NA NA ncRNA_UTR3 ENSG00000090621 NA NA NA Score=770;Name=lod=1794 NA 1p34.3 NA Name=Pol2-4H8,Pol2(b) NA NA rs2293476 0.14 0.14 0.122 0.0926518 0.2316 0.1012 0.1066 0.0106 0.0419 0.23 0.11 0.14 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.88787 4.88787 NA NA NA NA 0.094 NA 6.1017333 1042 4 155488821 155488821 C T exonic FGB NA synonymous SNV FGB:NM_001184741:exon4:c.C390T:p.S130S,FGB:NM_005141:exon4:c.C567T:p.S189S exonic ENSG00000171564 NA synonymous SNV ENSG00000171564:ENST00000302068:exon4:c.C567T:p.S189S NA Name=Fibrinogen 4q31.3 NA NA NA NA rs6056 0.17 0.17 0.147 0.153355 0.1998 0.2242 0.1499 0.0756 0.1401 0.21 0.18 0.2 0.09 0.1745 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632677 NA NA 0.191047 0.088516 NA 0.167 NA 6.1013196 1042 15 34544468 34544468 C T exonic SLC12A6 NA synonymous SNV SLC12A6:NM_001042497:exon8:c.G1191A:p.S397S,SLC12A6:NM_005135:exon9:c.G1083A:p.S361S,SLC12A6:NM_133647:exon9:c.G1236A:p.S412S,SLC12A6:NM_001042494:exon10:c.G1059A:p.S353S,SLC12A6:NM_001042495:exon10:c.G1059A:p.S353S,SLC12A6:NM_001042496:exon10:c.G1209A:p.S403S exonic ENSG00000140199 NA synonymous SNV ENSG00000140199:ENST00000451844:exon7:c.G672A:p.S224S,ENSG00000140199:ENST00000397707:exon8:c.G1191A:p.S397S,ENSG00000140199:ENST00000560164:exon8:c.G672A:p.S224S,ENSG00000140199:ENST00000290209:exon9:c.G1083A:p.S361S,ENSG00000140199:ENST00000559664:exon9:c.G1236A:p.S412S,ENSG00000140199:ENST00000560611:exon9:c.G1236A:p.S412S,ENSG00000140199:ENST00000561080:exon9:c.G1236A:p.S412S,ENSG00000140199:ENST00000354181:exon10:c.G1236A:p.S412S,ENSG00000140199:ENST00000397702:exon10:c.G1059A:p.S353S,ENSG00000140199:ENST00000458406:exon10:c.G1059A:p.S353S,ENSG00000140199:ENST00000558589:exon10:c.G1209A:p.S403S,ENSG00000140199:ENST00000558667:exon10:c.G1236A:p.S412S,ENSG00000140199:ENST00000559523:exon10:c.G1059A:p.S353S Score=641;Name=lod=536 NA 15q14 NA NA NA NA rs2290940 0.2 0.2 0.187 0.206869 0.2068 0.2827 0.2003 0.1256 0.2434 0.22 0.27 0.2 0.11 0.1888 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853939 NA NA 0.170544 0.124943 NA 0.094 NA 6.1005226 1042 3 13896140 13896140 A G exonic WNT7A NA synonymous SNV WNT7A:NM_004625:exon3:c.T459C:p.S153S exonic ENSG00000154764 NA synonymous SNV ENSG00000154764:ENST00000285018:exon3:c.T459C:p.S153S NA NA 3p25.1 Score=831;Name=V$ATF_01 NA NA NA rs3762719 0.27 0.27 0.217 0.250799 0.17 0.5813 0.2061 0.1293 0.1892 0.18 0.55 0.17 0.15 0.2143 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.561735 1.561735 NA 0.182209 0.175897 NA 0.29 NA 6.1001576 1042 15 34542872 34542872 C G exonic SLC12A6 NA synonymous SNV SLC12A6:NM_001042497:exon10:c.G1506C:p.P502P,SLC12A6:NM_005135:exon11:c.G1398C:p.P466P,SLC12A6:NM_133647:exon11:c.G1551C:p.P517P,SLC12A6:NM_001042494:exon12:c.G1374C:p.P458P,SLC12A6:NM_001042495:exon12:c.G1374C:p.P458P,SLC12A6:NM_001042496:exon12:c.G1524C:p.P508P exonic ENSG00000140199 NA synonymous SNV ENSG00000140199:ENST00000451844:exon9:c.G987C:p.P329P,ENSG00000140199:ENST00000397707:exon10:c.G1506C:p.P502P,ENSG00000140199:ENST00000560164:exon10:c.G987C:p.P329P,ENSG00000140199:ENST00000290209:exon11:c.G1398C:p.P466P,ENSG00000140199:ENST00000559664:exon11:c.G1551C:p.P517P,ENSG00000140199:ENST00000560611:exon11:c.G1551C:p.P517P,ENSG00000140199:ENST00000561080:exon11:c.G1551C:p.P517P,ENSG00000140199:ENST00000354181:exon12:c.G1551C:p.P517P,ENSG00000140199:ENST00000397702:exon12:c.G1374C:p.P458P,ENSG00000140199:ENST00000458406:exon12:c.G1374C:p.P458P,ENSG00000140199:ENST00000558589:exon12:c.G1524C:p.P508P,ENSG00000140199:ENST00000558667:exon12:c.G1551C:p.P517P,ENSG00000140199:ENST00000559523:exon12:c.G1374C:p.P458P Score=655;Name=lod=613 NA 15q14 NA NA NA NA rs17236798 0.2 0.2 0.187 0.207268 0.2068 0.2827 0.2017 0.1263 0.2434 0.22 0.27 0.2 0.11 0.1896 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.917963 NA NA 0.170428 0.127896 NA 0.094 NA 6.0998386 1042 19 5786815 5786815 G A exonic DUS3L NA synonymous SNV DUS3L:NM_001161619:exon8:c.C705T:p.A235A,DUS3L:NM_020175:exon9:c.C1431T:p.A477A exonic ENSG00000141994 NA synonymous SNV ENSG00000141994:ENST00000320699:exon8:c.C705T:p.A235A,ENSG00000141994:ENST00000309061:exon9:c.C1431T:p.A477A Score=591;Name=lod=335 NA 19p13.3 NA NA NA NA rs10811 0.3 0.3 0.257 0.312899 0.165 0.5437 0.1873 0.3298 0.2935 0.17 0.49 0.21 0.33 0.2454 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.701075 1.701075 NA 0.156927 0.304595 NA 0.261 NA 6.0993396 1042 2 10912719 10912719 G A exonic ATP6V1C2 NA synonymous SNV ATP6V1C2:NM_001039362:exon8:c.G621A:p.V207V,ATP6V1C2:NM_144583:exon8:c.G621A:p.V207V exonic ENSG00000143882 NA synonymous SNV ENSG00000143882:ENST00000272238:exon8:c.G621A:p.V207V,ENSG00000143882:ENST00000381661:exon8:c.G621A:p.V207V Score=556;Name=lod=243 NA 2p25.1 NA NA NA NA rs72777388 0.13 0.13 0.132 0.124201 0.2028 0.0526 0.1369 0.1558 0.0654 0.19 0.06 0.11 0.15 0.1583 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431505 NA NA 0.206279 0.147753 NA 0.217 NA 6.0992876 1042 5 78135201 78135201 C T exonic ARSB NA synonymous SNV ARSB:NM_000046:exon6:c.G1191A:p.P397P,ARSB:NM_198709:exon7:c.G1191A:p.P397P exonic ENSG00000113273 NA synonymous SNV ENSG00000113273:ENST00000264914:exon6:c.G1191A:p.P397P,ENSG00000113273:ENST00000396151:exon7:c.G1191A:p.P397P,ENSG00000113273:ENST00000565165:exon7:c.G1191A:p.P397P NA NA 5q14.1 NA NA NA NA rs25413 0.22 0.22 0.255 0.259185 0.1799 0.0486 0.1513 0.5628 0.2239 0.19 0.03 0.15 0.55 0.2007 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358955 NA NA 0.18686 0.496596 NA 0.246 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078001.1;CLNDSDB=.;CLNDSDBID=. 6.0992066 1042 1 94474328 94474328 T C exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon41:c.A5814G:p.L1938L exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000535881:exon4:c.A171G:p.L57L,ENSG00000198691:ENST00000536513:exon6:c.A624G:p.L208L,ENSG00000198691:ENST00000370225:exon41:c.A5814G:p.L1938L NA NA 1p22.1 NA NA NA NA rs4147857 0.2 0.2 0.185 0.1875 0.1879 0.121 0.232 0.2678 0.1155 0.18 0.16 0.23 0.25 0.1886 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963242 NA NA 0.191163 0.237631 ID=COSM146562;OCCURENCE=1(stomach) 0.203 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085761.2;CLNDSDB=.;CLNDSDBID=. 6.0990036 1042 14 24728294 24728294 G T exonic TGM1 NA synonymous SNV TGM1:NM_000359:exon7:c.C1146A:p.G382G exonic ENSG00000092295 NA synonymous SNV ENSG00000092295:ENST00000559136:exon3:c.C219A:p.G73G,ENSG00000092295:ENST00000206765:exon7:c.C1146A:p.G382G Score=570;Name=lod=276 NA 14q12 NA NA NA NA rs1126432 0.17 0.17 0.178 0.155351 0.2028 0.0853 0.1657 0.1815 0.136 0.22 0.09 0.15 0.18 0.1697 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410715 NA NA 0.195349 0.17567 NA 0.145 NA 6.0988176 1042 1 85816134 85816134 T C exonic DDAH1 NA synonymous SNV DDAH1:NM_012137:exon4:c.A561G:p.A187A,DDAH1:NM_001134445:exon5:c.A252G:p.A84A exonic ENSG00000153904 NA synonymous SNV ENSG00000153904:ENST00000284031:exon4:c.A561G:p.A187A,ENSG00000153904:ENST00000426972:exon4:c.A282G:p.A94A,ENSG00000153904:ENST00000539042:exon4:c.A561G:p.A187A,ENSG00000153904:ENST00000542148:exon4:c.A261G:p.A87A,ENSG00000153904:ENST00000535924:exon5:c.A252G:p.A84A Score=605;Name=lod=382 NA 1p22.3 NA NA NA NA rs2230820 0.14 0.14 0.12 0.124601 0.2038 0.1567 0.1974 0.0204 0.0992 0.21 0.15 0.17 0.01 0.1658 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.658824 1.658824 NA 0.199767 0.047435 NA 0.123 NA 6.0972996 1042 13 46103935 46103935 A G exonic COG3 NA nonsynonymous SNV COG3:NM_031431:exon21:c.A2240G:p.N747S exonic ENSG00000136152 NA nonsynonymous SNV ENSG00000136152:ENST00000349995:exon21:c.A2240G:p.N747S NA NA 13q14.13 NA NA NA NA rs2274285 0.7 0.7 0.66 0.681909 0.7356 0.7798 0.8156 0.4357 0.7638 0.73 0.81 0.79 0.47 0.7449 0.81 0.82 T 0.0 B 0.0 B 0.002 N 0.993 P 1.445 L 0.94 T -0.942 T 0.000 T 0.009 -1.618 0.013 -1.32 -0.165 2.427 6.300 -1.617769 NA 0.72 0.756512 0.495007 NA 0.609 NA 6.0963214 1042 5 33751454 33751454 A T intronic ADAMTS12 NA NA NA exonic ENSG00000151388 NA stopgain ENSG00000151388:ENST00000515401:exon3:c.T689A:p.L230X NA NA 5p13.3 NA NA Name=8 NA rs1530507 0.59 0.59 0.578 0.556909 0.7336 0.5605 0.6513 0.3729 0.5532 0.73 0.55 0.64 0.37 0.6706 0.73 1 T . . . . . . 0.428 P . . . . . . . . . 2.562 14.53 1.06 -0.008 0.502 6.476 2.562141 2.562141 NA NA NA ID=COSM149808;OCCURENCE=1(stomach) 0.522 NA 6.0958 1042 1 166818566 166818566 A G exonic POGK NA synonymous SNV POGK:NM_017542:exon5:c.A750G:p.A250A exonic ENSG00000143157 NA synonymous SNV ENSG00000143157:ENST00000537173:exon3:c.A396G:p.A132A,ENSG00000143157:ENST00000536514:exon4:c.A495G:p.A165A,ENSG00000143157:ENST00000367875:exon5:c.A750G:p.A250A,ENSG00000143157:ENST00000367876:exon5:c.A750G:p.A250A NA NA 1q24.1 Score=956;Name=V$CREL_01 NA NA NA rs2075946 0.26 0.26 0.242 0.276757 0.162 0.5565 0.17 0.152 0.3507 0.16 0.53 0.17 0.18 0.2239 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493089 NA NA 0.185233 0.174535 NA 0.217 NA 6.0955336 1042 1 114423653 114423653 C T ncRNA_UTR3 BCL2L15 NA NA NA ncRNA_UTR3 ENSG00000188761 NA NA NA NA NA 1p13.2 NA Name=TBP Name=17 NA rs1217382 0.37 0.37 0.384 0.401158 0.2644 0.0813 0.2608 0.9002 0.2965 0.27 0.09 0.29 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379863 NA NA 0.30704 0.799133 NA 0.391 NA 6.0952266 1043 4 140587125 140587125 A T UTR5 MGST2 NM_002413:c.-49A>T,NM_001204368:c.-49A>T,NM_001204367:c.-29272A>T,NM_001204366:c.-49A>T NA NA UTR5 ENSG00000085871 ENST00000265498:c.-49A>T,ENST00000506797:c.-49A>T NA NA NA NA 4q31.1 NA Name=Pol2,SP1,Pol2(phosphoS2),TCF4,YY1,HNF4A,YY1_(C-20),Sin3Ak-20,HDAC2_(SC-6296),Pol2-4H8,GATA-2,c-Fos,TAF1,GATA-1,FOSL2,FOXA1_(C-20),HNF4A_(H-171),GABP,p300,BHLHE40,TCF12,TBP,RXRA,ELF1_(SC-631),FOXA1_(SC-101058),AP-2gamma,FOXA2_(SC-6554),HEY1,HNF4G_(SC-6558),SRF Name=144 NA rs2132845 0.14 0.14 0.158 0.153954 0.0716 0.1696 0.0706 0.2723 0.1217 0.06 0.17 0.07 0.28 0.0949 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244719 1.244719 NA 0.072093 0.251021 ID=COSN167337;OCCURENCE=1(large_intestine) 0.152 NA 6.0947404 1043 6 11185533 11185533 G A exonic NEDD9 NA synonymous SNV NEDD9:NM_001271033:exon6:c.C1920T:p.T640T,NEDD9:NM_006403:exon7:c.C2367T:p.T789T,NEDD9:NM_001142393:exon8:c.C2367T:p.T789T exonic ENSG00000111859 NA synonymous SNV ENSG00000111859:ENST00000379446:exon7:c.C2367T:p.T789T,ENSG00000111859:ENST00000504387:exon8:c.C2367T:p.T789T NA NA 6p24.2 Score=829;Name=V$RFX1_02 Name=Pol2,YY1,YY1_(C-20) NA NA rs1050775 0.49 0.49 0.521 0.492013 0.5477 0.3492 0.4236 0.6452 0.4233 0.54 0.33 0.4 0.66 0.4905 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682935 NA NA 0.534302 0.630504 ID=COSM150051;OCCURENCE=1(stomach) 0.601 NA 6.0941646 1043 6 152615200 152615200 G A exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon93:c.C17532T:p.H5844H,SYNE1:NM_182961:exon94:c.C17745T:p.H5915H exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000540663:exon2:c.C270T:p.H90H,ENSG00000131018:ENST00000537033:exon3:c.C411T:p.H137H,ENSG00000131018:ENST00000356820:exon9:c.C1317T:p.H439H,ENSG00000131018:ENST00000423061:exon93:c.C17532T:p.H5844H,ENSG00000131018:ENST00000265368:exon94:c.C17745T:p.H5915H,ENSG00000131018:ENST00000367255:exon94:c.C17745T:p.H5915H,ENSG00000131018:ENST00000448038:exon94:c.C17532T:p.H5844H,ENSG00000131018:ENST00000341594:exon95:c.C16581T:p.H5527H NA NA 6q25.2 NA NA NA NA rs12664753 0.16 0.16 0.144 0.147764 0.1938 0.1677 0.1729 0.0129 0.2444 0.21 0.2 0.19 0.02 0.1875 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.502045 NA NA 0.191744 0.046527 NA 0.13 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118454.2;CLNDSDB=.;CLNDSDBID=. 6.0936226 1043 14 24773387 24773387 T C exonic NOP9 NA synonymous SNV NOP9:NM_174913:exon8:c.T1551C:p.L517L exonic ENSG00000196943 NA synonymous SNV ENSG00000196943:ENST00000267425:exon8:c.T1551C:p.L517L,ENSG00000196943:ENST00000396802:exon8:c.T1551C:p.L517L Score=433;Name=lod=77 NA 14q12 NA NA NA NA rs2144494 0.15 0.15 0.128 0.14377 0.1849 0.004 0.3444 0.1346 0.1155 0.2 0.01 0.3 0.14 0.1811 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932638 NA NA 0.207209 0.147526 NA 0.13 NA 6.0934576 1043 17 10231417 10231417 C T exonic MYH13 NA synonymous SNV MYH13:NM_003802:exon22:c.G2457A:p.Q819Q exonic ENSG00000006788 NA synonymous SNV ENSG00000006788:ENST00000418404:exon21:c.G2457A:p.Q819Q,ENSG00000006788:ENST00000252172:exon22:c.G2457A:p.Q819Q,ENSG00000006788:ENST00000570743:exon22:c.G2457A:p.Q819Q Score=514;Name=lod=163 NA 17p13.1 NA NA NA NA rs2277644 0.28 0.28 0.274 0.275359 0.167 0.5159 0.2291 0.1974 0.2771 0.17 0.54 0.22 0.19 0.2306 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826793 NA NA 0.175779 0.194166 NA 0.304 NA 6.0932876 1043 10 91498127 91498127 T C exonic KIF20B NA nonsynonymous SNV KIF20B:NM_016195:exon20:c.T3409C:p.C1137R exonic ENSG00000138182 NA nonsynonymous SNV ENSG00000138182:ENST00000260753:exon20:c.T3409C:p.C1137R,ENSG00000138182:ENST00000371728:exon20:c.T3529C:p.C1177R,ENSG00000138182:ENST00000394289:exon20:c.T3529C:p.C1177R,ENSG00000138182:ENST00000416354:exon20:c.T3619C:p.C1207R NA NA 10q23.31 NA NA NA NA rs1886996 0.81 0.81 0.816 0.857428 0.7346 0.9355 0.8026 0.848 0.955 0.74 0.94 0.78 0.79 0.7934 0.94 0.57 T 0.0 B 0.001 B 0.862 N 1.000 P 1.935 M -0.27 T -0.949 T 0.000 T 0.013 -1.743 0.01 0.459 -0.115 0.563 3.875 -1.743058 NA 0.13 0.713239 0.842955 NA 0.804 NA 6.0920944 1043 7 64023437 64023437 A G UTR5 ZNF680 NM_178558:c.-105T>C,NM_001130022:c.-105T>C NA NA UTR5 ENSG00000173041 ENST00000309683:c.-105T>C NA NA NA NA 7q11.21 NA Name=CHD2_(N-1250),ELF1_(SC-631),NF-YB,SP1,Pol2,TCF4,Pol2(phosphoS2),TAF1,SP2_(SC-643),NF-YA,E2F4,GABP,TBP,IRF1,NFKB,HEY1,IRF3,RFX5_(N-494),Sin3Ak-20,Pol2-4H8,c-Fos,ZNF263 Name=146 NA rs6965883 0.2 0.2 0.157 0.201478 0.2416 0.0833 0.2176 0.1906 0.2853 0.26 0.09 0.22 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250613 NA NA NA NA NA 0.145 NA 6.0917334 1043 18 56204977 56204977 C T exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.G2442A:p.T814T exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G2442A:p.T814T NA NA 18q21.32 Score=839;Name=V$RFX1_01 Name=Pol2,POU2F2,Oct-2,Pol2-4H8 NA NA rs3809971 0.44 0.44 0.44 0.404153 0.5726 0.2361 0.4294 0.4312 0.3497 0.59 0.24 0.51 0.38 0.469 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.300179 NA NA 0.533605 0.450068 NA 0.529 NA 6.0914616 1043 11 6478619 6478619 G A exonic TRIM3 NA synonymous SNV TRIM3:NM_001248007:exon4:c.C246T:p.I82I,TRIM3:NM_001248006:exon5:c.C603T:p.I201I,TRIM3:NM_033278:exon5:c.C603T:p.I201I,TRIM3:NM_006458:exon6:c.C603T:p.I201I exonic ENSG00000110171 NA synonymous SNV ENSG00000110171:ENST00000536344:exon4:c.C246T:p.I82I,ENSG00000110171:ENST00000345851:exon5:c.C603T:p.I201I,ENSG00000110171:ENST00000525074:exon5:c.C603T:p.I201I,ENSG00000110171:ENST00000537602:exon5:c.C603T:p.I201I,ENSG00000110171:ENST00000359518:exon6:c.C603T:p.I201I,ENSG00000110171:ENST00000528227:exon6:c.C603T:p.I201I Score=583;Name=lod=312 NA 11p15.4 NA NA NA NA rs16913748 0.16 0.16 0.184 0.1873 0.1849 0.0188 0.1772 0.2973 0.2219 0.19 0.02 0.15 0.29 0.1854 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768633 NA NA 0.205307 0.288732 NA 0.297 NA 6.0910596 1043 13 28893642 28893642 A G exonic FLT1 NA synonymous SNV FLT1:NM_002019:exon24:c.T3204C:p.P1068P exonic ENSG00000102755 NA synonymous SNV ENSG00000102755:ENST00000543394:exon4:c.T273C:p.P91P,ENSG00000102755:ENST00000540678:exon11:c.T858C:p.P286P,ENSG00000102755:ENST00000282397:exon24:c.T3204C:p.P1068P Score=606;Name=lod=387 NA 13q12.2 NA NA NA NA rs2296189 0.18 0.18 0.155 0.243011 0.169 0.1825 0.1124 0.2806 0.4233 0.16 0.17 0.13 0.25 0.2188 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.644024 1.644024 NA 0.188837 0.263504 NA 0.268 NA 6.0900296 1043 7 130080812 130080812 T G UTR5 CEP41 NM_018718:c.-5A>C,NM_001257159:c.-5A>C,NM_001257158:c.-5A>C,NM_001257160:c.-5A>C NA NA UTR5 ENSG00000106477 ENST00000223208:c.-5A>C,ENST00000541543:c.-5A>C,ENST00000484549:c.-5A>C,ENST00000343969:c.-5A>C,ENST00000471201:c.-5A>C,ENST00000489512:c.-5A>C NA NA Score=554;Name=lod=237 NA 7q32.2 NA Name=NF-YB,ELF1_(SC-631),CHD2_(N-1250),GABP,TAF1,TR4,Pol2,SP1,IRF1,Pol2-4H8,c-Fos,HA-E2F1 Name=148 NA rs2287371 0.47 0.47 0.43 0.478634 0.3907 0.6696 0.5432 0.2882 0.5838 0.38 0.7 0.54 0.29 0.4493 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.982181 2.982181 NA 0.403837 0.307989 NA 0.145 NA 6.0894964 1043 7 66774604 66774604 G C ncRNA_exonic STAG3L4 NA NA NA ncRNA_exonic ENSG00000106610 NA NA NA Score=619;Name=lod=439 NA 7q11.21 NA NA NA NA rs1045513 0.6 0.6 0.6 0.608427 0.5249 0.6875 0.572 0.6581 0.5716 0.53 0.69 0.55 0.65 0.5545 0.69 0.49 T 0.002 B 0.001 B 0.029 N . . . . . . -0.946 T 0.000 T . 0.142 4.762 -1.05 -1.935 -0.566 3.528 0.141626 NA 0.24 0.499419 0.65547 ID=COSM1451880;OCCURENCE=1(large_intestine) 0.565 NA 6.0878476 1043 19 4352838 4352838 C G intronic MPND NA NA NA ncRNA_intronic ENSG00000269807 NA NA NA NA NA 19p13.3 NA Name=Znf143_(16618-1-AP),SMC3_(ab9263),USF1_(SC-8983),Rad21,CTCF,ZBTB7A_(SC-34508),CTCF_(C-20) Name=139 NA rs11668187 0.63 0.63 NA 0.191893 0.2455 0.0853 0.2939 0.1717 0.2014 0.52 0.73 0.66 0.67 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.981048 NA NA NA NA NA NA NA 6.0878333 1043 10 52103707 52103707 A G exonic SGMS1 NA synonymous SNV SGMS1:NM_147156:exon7:c.T168C:p.N56N exonic ENSG00000198964 NA synonymous SNV ENSG00000198964:ENST00000361543:exon1:c.T168C:p.N56N,ENSG00000198964:ENST00000361781:exon7:c.T168C:p.N56N Score=596;Name=lod=354 NA 10q11.23 Score=871;Name=V$YY1_01 NA NA NA rs10763354 0.54 0.54 0.514 0.501997 0.5298 0.4861 0.6311 0.5212 0.3722 0.53 0.5 0.64 0.52 0.5201 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925296 NA NA 0.529186 0.539946 NA 0.572 NA 6.0875806 1043 1 48459907 48459907 C T exonic TRABD2B NA synonymous SNV TRABD2B:NM_001194986:exon2:c.G465A:p.A155A exonic ENSG00000204018 NA synonymous SNV ENSG00000204018:ENST00000371865:exon2:c.G465A:p.A155A NA NA 1p33 Score=888;Name=V$NCX_01 NA NA NA rs3814006 0.2 0.2 0.18 0.165735 0.2793 0.253 0.2233 0.0144 0.1227 0.28 0.22 0.23 0.03 0.3003 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192974 NA NA NA NA ID=COSM426409;OCCURENCE=1(breast) 0.232 NA 6.0870666 1043 19 52076481 52076481 C A UTR5 ZNF175 NM_007147:c.-102C>A NA NA UTR5 ENSG00000105497 ENST00000262259:c.-102C>A,ENST00000545217:c.-102C>A,ENST00000596504:c.-102C>A NA NA NA NA 19q13.41 NA Name=c-Fos Name=73 NA rs2305371 0.39 0.39 0.381 0.386781 0.2465 0.7599 0.2637 0.2988 0.3528 0.24 0.77 0.24 0.3 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433558 NA NA NA NA NA 0.268 NA 6.0868334 1043 1 29529699 29529699 T C exonic MECR NA synonymous SNV MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_016011:exon5:c.A597G:p.A199A exonic ENSG00000116353 NA synonymous SNV ENSG00000116353:ENST00000463412:exon3:c.A216G:p.A72A,ENSG00000116353:ENST00000263702:exon5:c.A597G:p.A199A,ENSG00000116353:ENST00000373791:exon5:c.A369G:p.A123A Score=606;Name=lod=386 NA 1p35.3 Score=881;Name=V$CEBPB_02 Name=HA-E2F1,ZNF263,Pol2,Pol2(phosphoS2),CHD2_(N-1250),CTCF,ELF1_(SC-631) NA NA rs1062924 0.76 0.76 0.754 0.746805 0.8807 0.5615 0.7493 0.8238 0.6943 0.88 0.53 0.79 0.8 0.8089 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.454662 1.454662 NA 0.890556 0.848547 NA 0.746 NA 6.0865106 1043 X 24807111 24807111 C T intronic POLA1 NA NA NA ncRNA_exonic ENSG00000232472 NA NA NA Score=529;Name=lod=188 NA Xp22.11 NA NA NA NA rs200370419 NA NA 0.14626 NA NA NA NA NA NA NA NA NA NA 0.2475 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39622 NA NA NA NA NA NA CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000073157.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 6.0858333 1044 6 157405930 157405930 G A exonic ARID1B NA synonymous SNV ARID1B:NM_017519:exon5:c.G2133A:p.A711A,ARID1B:NM_020732:exon6:c.G2172A:p.A724A exonic ENSG00000049618 NA synonymous SNV ENSG00000049618:ENST00000319584:exon3:c.G399A:p.A133A,ENSG00000049618:ENST00000275248:exon5:c.G1959A:p.A653A,ENSG00000049618:ENST00000350026:exon5:c.G2133A:p.A711A,ENSG00000049618:ENST00000367148:exon5:c.G2133A:p.A711A,ENSG00000049618:ENST00000414678:exon5:c.G630A:p.A210A,ENSG00000049618:ENST00000346085:exon6:c.G2172A:p.A724A NA NA 6q25.3 Score=863;Name=V$BACH2_01 NA NA NA rs3734441 0.5 0.5 0.496 0.495208 0.5239 0.5734 0.6254 0.2806 0.5828 0.52 0.58 0.59 0.32 0.519 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229855 NA NA 0.538953 0.343168 ID=COSM450794,COSM1487405;OCCURENCE=1(breast) 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114263.1;CLNDSDB=.;CLNDSDBID=. 6.0848136 1044 1 77759578 77759578 A G exonic AK5 NA synonymous SNV AK5:NM_012093:exon3:c.A270G:p.A90A,AK5:NM_174858:exon3:c.A348G:p.A116A exonic ENSG00000154027 NA synonymous SNV ENSG00000154027:ENST00000344720:exon3:c.A270G:p.A90A,ENSG00000154027:ENST00000354567:exon3:c.A348G:p.A116A,ENSG00000154027:ENST00000478407:exon3:c.A270G:p.A90A Score=568;Name=lod=271 NA 1p31.1 NA NA NA NA rs2815311 0.13 0.13 0.132 0.115016 0.2038 0.1359 0.1023 0.0613 0.0838 0.2 0.12 0.12 0.05 0.1681 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.897242 1.897242 NA 0.21 0.075579 NA 0.109 NA 6.0847666 1044 6 29069299 29069299 C T intergenic OR2B3,OR2J3 dist=14209;dist=10369 NA NA exonic ENSG00000204702 NA stopgain ENSG00000204702:ENST00000377171:exon1:c.C580T:p.Q194X NA NA 6p22.1 NA NA NA NA rs2394517 0.39 0.39 0.36 0.337061 0.5815 0.3512 0.4323 0.0461 0.3967 0.61 0.34 0.43 0.05 0.5007 0.61 0.44 T . . . . . . 0.000 P . . . . . . . . . 4.625 25.3 0.285 0.357 -2.230 1.251 4.625129 4.625129 0.62 NA NA NA 0.304 NA 6.0844667 1044 11 130777886 130777886 G A exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon5:c.C2127T:p.T709T exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon5:c.C2127T:p.T709T,ENSG00000120451:ENST00000528555:exon5:c.C267T:p.T89T,ENSG00000120451:ENST00000533214:exon5:c.C2127T:p.T709T,ENSG00000120451:ENST00000530356:exon6:c.C267T:p.T89T,ENSG00000120451:ENST00000539184:exon6:c.C456T:p.T152T Score=483;Name=lod=122 NA 11q24.3 NA NA NA NA rs2276098 0.15 0.15 0.138 0.129593 0.1988 0.1637 0.0893 0.0492 0.1605 0.2 0.19 0.1 0.05 0.1757 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.744016 NA NA 0.208168 0.071558 NA 0.217 NA 6.0839986 1044 20 61528306 61528306 A G exonic DIDO1 NA nonsynonymous SNV DIDO1:NM_001193369:exon7:c.T1631C:p.M544T,DIDO1:NM_001193370:exon7:c.T1631C:p.M544T,DIDO1:NM_033081:exon7:c.T1631C:p.M544T,DIDO1:NM_080797:exon7:c.T1631C:p.M544T exonic ENSG00000101191 NA nonsynonymous SNV ENSG00000101191:ENST00000266070:exon7:c.T1631C:p.M544T,ENSG00000101191:ENST00000395335:exon7:c.T1631C:p.M544T,ENSG00000101191:ENST00000395340:exon7:c.T1631C:p.M544T,ENSG00000101191:ENST00000395343:exon7:c.T1631C:p.M544T NA NA 20q13.33 NA NA NA NA rs1883848 0.47 0.47 0.427 0.486821 0.3877 0.629 0.5014 0.4395 0.4959 0.36 0.62 0.52 0.42 0.4493 0.62 0.56 T 0.0 B 0.0 B 0.630 N 1.000 P -0.895 N 3.23 T -0.967 T 0.000 T 0.017 0.035 4.197 -1.16 -0.468 0.881 10.484 0.035244 NA 0.36 0.412963 0.428507 ID=COSM444190;OCCURENCE=1(breast) 0.377 NA 6.0833704 1044 17 76131070 76131070 G A exonic TMC8 NA synonymous SNV TMC8:NM_152468:exon9:c.G1107A:p.E369E exonic ENSG00000167895 NA synonymous SNV ENSG00000167895:ENST00000589691:exon8:c.G438A:p.E146E,ENSG00000167895:ENST00000318430:exon9:c.G1107A:p.E369E Score=395;Name=lod=54 NA 17q25.3 NA Name=ELF1_(SC-631) NA NA rs12452890 0.56 0.56 0.57 0.540335 0.5288 0.3938 0.6268 0.7231 0.3947 0.53 0.44 0.65 0.69 0.5343 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959822 NA 0 0.520581 0.685656 NA 0.543 NA 6.0829856 1044 1 205306590 205306590 G A exonic KLHDC8A NA synonymous SNV KLHDC8A:NM_018203:exon6:c.C990T:p.A330A,KLHDC8A:NM_001271864:exon7:c.C990T:p.A330A,KLHDC8A:NM_001271865:exon8:c.C990T:p.A330A,KLHDC8A:NM_001271863:exon9:c.C990T:p.A330A exonic ENSG00000162873 NA synonymous SNV ENSG00000162873:ENST00000537168:exon5:c.C651T:p.A217A,ENSG00000162873:ENST00000367155:exon6:c.C990T:p.A330A,ENSG00000162873:ENST00000460687:exon6:c.C588T:p.A196A,ENSG00000162873:ENST00000539253:exon6:c.C990T:p.A330A,ENSG00000162873:ENST00000367156:exon9:c.C990T:p.A330A NA NA 1q32.1 Score=814;Name=V$CMYB_01 NA NA NA rs3210952 0.2 0.2 0.18 0.178514 0.2127 0.3383 0.17 0.0219 0.1963 0.21 0.31 0.22 0.03 0.1845 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05183 NA NA 0.186512 0.046074 NA 0.116 NA 6.0829546 1044 3 97868616 97868616 C T exonic OR5H14 NA synonymous SNV OR5H14:NM_001005514:exon1:c.C387T:p.P129P exonic ENSG00000236032 NA synonymous SNV ENSG00000236032:ENST00000437310:exon1:c.C387T:p.P129P Score=449;Name=lod=89 NA 3q11.2 Score=842;Name=V$OCT1_01 NA NA NA rs4379004 0.59 0.59 0.582 0.631989 0.5358 0.5238 0.585 0.8601 0.5675 0.51 0.55 0.51 0.83 0.5678 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166512 NA NA 0.480976 0.750228 NA 0.319 NA 6.0820906 1044 19 36575645 36575645 G A exonic WDR62 NA synonymous SNV WDR62:NM_001083961:exon12:c.G1641A:p.T547T,WDR62:NM_173636:exon12:c.G1641A:p.T547T exonic ENSG00000075702 NA synonymous SNV ENSG00000075702:ENST00000270301:exon12:c.G1641A:p.T547T,ENSG00000075702:ENST00000401500:exon12:c.G1641A:p.T547T NA NA 19q13.12 Score=900;Name=V$AREB6_01 NA NA NA rs2301734 0.14 0.14 0.136 0.125 0.1948 0.1726 0.1311 0.0121 0.1524 0.19 0.18 0.15 0.02 0.1789 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915821 NA NA 0.21093 0.041534 ID=COSM148600;OCCURENCE=1(stomach) 0.217 NA 6.0820366 1044 2 201931730 201931730 T C intronic FAM126B NA NA NA ncRNA_exonic ENSG00000226658 NA NA NA Score=718;Name=lod=1107 NA 2q33.1 NA NA Name=3 NA rs16842071 0.28 0.28 0.318 0.297125 0.2525 0.0149 0.1787 0.7209 0.1452 0.26 0.01 0.2 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332243 NA NA NA NA NA 0.37 NA 6.0808333 1044 12 124867996 124867996 G T intronic NCOR2 NA NA NA ncRNA_exonic ENSG00000255965 NA NA NA Score=265;Name=lod=16 NA 12q24.31 NA Name=Pol2 NA NA rs1268891 0.36 0.36 0.338 0.351837 0.2525 0.6379 0.2781 0.292 0.2924 0.26 0.64 0.27 0.27 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022775 NA NA NA NA NA 0.275 NA 6.0808333 1044 20 33574765 33574765 T C exonic MYH7B NA synonymous SNV MYH7B:NM_020884:exon15:c.T1107C:p.N369N exonic ENSG00000078814 NA synonymous SNV ENSG00000078814:ENST00000262873:exon13:c.T1107C:p.N369N Score=531;Name=lod=191 NA 20q11.22 NA NA NA NA rs3746446 0.17 0.17 0.175 0.174521 0.1948 0.1071 0.134 0.1649 0.2648 0.2 0.12 0.16 0.17 0.1959 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139826 NA NA 0.195298 0.173311 NA 0.275 NA 6.0806686 1044 19 36549690 36549690 C T exonic WDR62 NA synonymous SNV WDR62:NM_001083961:exon2:c.C186T:p.L62L,WDR62:NM_173636:exon2:c.C186T:p.L62L exonic ENSG00000075702 NA synonymous SNV ENSG00000075702:ENST00000270301:exon2:c.C186T:p.L62L,ENSG00000075702:ENST00000388999:exon2:c.C186T:p.L62L,ENSG00000075702:ENST00000401500:exon2:c.C186T:p.L62L,ENSG00000075702:ENST00000427823:exon2:c.C168T:p.L56L,ENSG00000075702:ENST00000587391:exon2:c.C186T:p.L62L Score=564;Name=lod=261 NA 19q13.12 NA NA NA NA rs11538454 0.14 0.14 0.133 0.125599 0.1958 0.1716 0.1326 0.0121 0.1544 0.19 0.18 0.15 0.02 0.1795 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.342008 1.342008 NA 0.210814 0.041761 ID=COSM148599;OCCURENCE=1(stomach) 0.232 NA 6.0805526 1044 1 236175339 236175339 T C exonic NID1 NA synonymous SNV NID1:NM_002508:exon12:c.A2409G:p.V803V exonic ENSG00000116962 NA synonymous SNV ENSG00000116962:ENST00000264187:exon12:c.A2409G:p.V803V Score=479;Name=lod=118 NA 1q42.3 NA NA Name=6 NA rs2031487 0.64 0.64 0.593 0.696685 0.5 0.7698 0.6427 0.795 0.729 0.5 0.75 0.6 0.78 0.5915 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.338909 1.338909 NA 0.495233 0.760554 NA 0.645 NA 6.0799336 1044 2 198327314 198327314 G A exonic COQ10B NA synonymous SNV COQ10B:NM_025147:exon3:c.G306A:p.K102K exonic ENSG00000115520 NA synonymous SNV ENSG00000115520:ENST00000409398:exon2:c.G156A:p.K52K,ENSG00000115520:ENST00000263960:exon3:c.G306A:p.K102K,ENSG00000115520:ENST00000409010:exon3:c.G222A:p.K74K,ENSG00000115520:ENST00000545340:exon3:c.G177A:p.K59K Score=544;Name=lod=217 NA 2q33.1 NA NA NA NA rs3754822 0.17 0.17 0.185 0.145767 0.2157 0.2282 0.1729 0.053 0.0951 0.2 0.24 0.18 0.05 0.1741 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982351 NA NA 0.197326 0.086473 NA 0.109 NA 6.0795406 1044 17 46608030 46608030 G A exonic HOXB1 NA synonymous SNV HOXB1:NM_002144:exon1:c.C237T:p.S79S exonic ENSG00000120094 NA synonymous SNV ENSG00000120094:ENST00000239174:exon1:c.C237T:p.S79S,ENSG00000120094:ENST00000577092:exon1:c.C237T:p.S79S NA NA 17q21.32 Score=772;Name=V$AHR_01 NA NA NA rs12946855 0.13 0.13 0.119 0.134185 0.2048 0.0972 0.1225 0.1172 0.1309 0.21 0.06 0.12 0.11 0.1772 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20966 NA NA 0.205212 0.126022 NA 0.188 NA 6.0794546 1044 4 42003671 42003671 A G exonic SLC30A9 NA nonsynonymous SNV SLC30A9:NM_006345:exon2:c.A148G:p.M50V exonic ENSG00000014824 NA nonsynonymous SNV ENSG00000014824:ENST00000264451:exon2:c.A148G:p.M50V,ENSG00000014824:ENST00000513699:exon2:c.A148G:p.M50V NA NA 4p13 NA NA NA NA rs1047626 0.67 0.67 0.608 0.628395 0.7565 0.9484 0.768 0.1051 0.7751 0.77 0.95 0.75 0.12 0.737 0.95 1 T 0.0 B 0.0 B 0.337 N 1.000 P 0.69 N 2.06 T -0.949 T 0.000 T 0.017 -2.015 0.007 -2.85 -0.527 -0.933 4.598 -2.01514 NA 1 0.761163 0.213118 NA 0.522 NA 6.0786704 1044 19 46387503 46387503 T C exonic IRF2BP1 NA synonymous SNV IRF2BP1:NM_015649:exon1:c.A1530G:p.L510L exonic ENSG00000170604 NA synonymous SNV ENSG00000170604:ENST00000302165:exon1:c.A1530G:p.L510L Score=638;Name=lod=520 NA 19q13.32 NA NA NA NA rs3745926 0.31 0.31 0.334 0.321486 0.169 0.3125 0.3127 0.5764 0.1493 0.16 0.32 0.33 0.51 0.2317 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222804 NA NA 0.187456 0.486752 NA 0.283 NA 6.0785106 1044 7 149523584 149523584 C T exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon102:c.C14495T:p.P4832L ncRNA_exonic ENSG00000197558 NA NA NA Score=309;Name=lod=24 NA 7q36.1 NA NA NA NA rs62492839 0.15 0.15 0.137 0.129393 0.1362 0.245 0.1268 0.0635 0.0941 0.13 0.23 0.12 0.1 0.1456 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276459 NA 0 0.140797 0.078241 NA 0.167 NA 6.077403 1044 9 38615698 38615698 C T exonic ANKRD18A NA nonsynonymous SNV ANKRD18A:NM_147195:exon3:c.G388A:p.E130K exonic ENSG00000180071 NA nonsynonymous SNV ENSG00000180071:ENST00000399703:exon3:c.G388A:p.E130K NA NA 9p13.1 NA NA NA NA rs1832313 0.46 0.46 0.395 0.421725 0.4264 0.5109 0.4265 0.4539 0.2781 0.41 0.49 0.46 0.49 0.4221 0.52 1 T 0.0 B 0.0 B . . 1.000 P . . 0.1 T -0.951 T 0.000 T 0.014 -1.439 0.02 0.224 -0.357 0.393 5.924 -1.439439 NA 0.68 0.407605 0.447977 NA 0.442 NA 6.0772284 1044 12 122186268 122186268 C T exonic TMEM120B NA synonymous SNV TMEM120B:NM_001080825:exon3:c.C225T:p.L75L exonic ENSG00000188735 NA synonymous SNV ENSG00000188735:ENST00000541467:exon2:c.C162T:p.L54L,ENSG00000188735:ENST00000342607:exon3:c.C225T:p.L75L,ENSG00000188735:ENST00000449592:exon3:c.C225T:p.L75L NA NA 12q24.31 NA Name=Pol2 Name=7 NA rs28651018 0.47 0.47 0.447 0.426518 0.5487 0.5188 0.4496 0.2103 0.4816 0.56 0.54 0.48 0.23 0.4959 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613467 NA NA 0.546178 0.258547 NA 0.348 NA 6.0758886 1044 4 169098914 169098914 A G exonic ANXA10 NA synonymous SNV ANXA10:NM_007193:exon7:c.A504G:p.T168T exonic ENSG00000109511 NA synonymous SNV ENSG00000109511:ENST00000359299:exon7:c.A504G:p.T168T NA NA 4q32.3 NA Name=MafK_(ab50322) NA NA rs477897 0.14 0.14 0.119 0.114816 0.2256 0.0476 0.1326 0.1067 0.0685 0.2 0.05 0.15 0.12 0.1548 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.086961 NA NA 0.210814 0.115751 NA 0.101 NA 6.0754526 1044 15 41146880 41146880 T C exonic SPINT1 NA synonymous SNV SPINT1:NM_001032367:exon7:c.T1110C:p.S370S,SPINT1:NM_003710:exon8:c.T1110C:p.S370S,SPINT1:NM_181642:exon8:c.T1158C:p.S386S exonic ENSG00000166145 NA synonymous SNV ENSG00000166145:ENST00000564375:exon4:c.T459C:p.S153S,ENSG00000166145:ENST00000568580:exon6:c.T1011C:p.S337S,ENSG00000166145:ENST00000431806:exon7:c.T1110C:p.S370S,ENSG00000166145:ENST00000344051:exon8:c.T1158C:p.S386S,ENSG00000166145:ENST00000562057:exon8:c.T1110C:p.S370S Score=385;Name=lod=49 NA 15q15.1 NA NA NA NA rs8028552 0.26 0.26 0.267 0.278754 0.1889 0.1706 0.1614 0.5787 0.1605 0.19 0.19 0.14 0.51 0.2016 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36811 1.36811 NA 0.20093 0.503631 NA 0.341 NA 6.0752366 1045 4 77675505 77675505 C T exonic SHROOM3 NA nonsynonymous SNV SHROOM3:NM_020859:exon7:c.C3869T:p.P1290L exonic ENSG00000138771 NA nonsynonymous SNV ENSG00000138771:ENST00000296043:exon7:c.C3869T:p.P1290L NA NA 4q21.1 NA NA NA NA rs3733242 0.51 0.51 0.508 0.529353 0.3907 0.5655 0.4438 0.6604 0.5184 0.39 0.53 0.44 0.73 0.4609 0.73 0.44 T 0.0 B 0.0 B 0.301 N 1.000 P -0.805 N 2.23 T -0.985 T 0.000 T 0.018 -0.41 2.086 -1.61 -0.404 -0.675 7.432 -0.409578 NA 0.6 0.407558 0.617794 NA 0.558 NA 6.0741754 1045 12 56827694 56827694 C G exonic TIMELESS NA synonymous SNV TIMELESS:NM_003920:exon3:c.G114C:p.L38L exonic ENSG00000111602 NA synonymous SNV ENSG00000111602:ENST00000229201:exon3:c.G114C:p.L38L,ENSG00000111602:ENST00000553532:exon3:c.G114C:p.L38L,ENSG00000111602:ENST00000554616:exon3:c.G114C:p.L38L Score=568;Name=lod=271 NA 12q13.3 Score=761;Name=V$PAX5_02 NA NA NA rs2279665 0.48 0.48 0.531 0.469449 0.5497 0.2619 0.3141 0.6505 0.4663 0.55 0.3 0.38 0.65 0.4985 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820825 NA NA 0.545349 0.640717 ID=COSM147549;OCCURENCE=1(stomach) 0.442 NA 6.0731176 1045 5 176733116 176733116 A G exonic PRELID1 NA synonymous SNV PRELID1:NM_001271828:exon4:c.A450G:p.R150R,PRELID1:NM_013237:exon4:c.A450G:p.R150R exonic ENSG00000169230 NA synonymous SNV ENSG00000169230:ENST00000303204:exon4:c.A450G:p.R150R,ENSG00000169230:ENST00000503216:exon4:c.A450G:p.R150R Score=613;Name=lod=413 NA 5q35.3 NA NA Name=9 NA rs4631 0.78 0.78 0.78 0.77496 0.8817 0.4901 0.7867 0.9334 0.7362 0.88 0.49 0.81 0.93 0.8263 0.93 . . . . . . . . 0.000 P . . . . -1.046 T 0.000 T . 0.204 5.101 1.13 -0.113 0.348 4.558 0.204248 NA NA 0.885814 0.931911 ID=COSM150020;OCCURENCE=1(stomach) 0.841 NA 6.0728526 1045 9 77407636 77407636 C T exonic TRPM6 NA synonymous SNV TRPM6:NM_001177310:exon19:c.G2427A:p.Q809Q,TRPM6:NM_001177311:exon19:c.G2427A:p.Q809Q,TRPM6:NM_017662:exon19:c.G2442A:p.Q814Q exonic ENSG00000119121 NA synonymous SNV ENSG00000119121:ENST00000360774:exon19:c.G2442A:p.Q814Q,ENSG00000119121:ENST00000361255:exon19:c.G2427A:p.Q809Q,ENSG00000119121:ENST00000376864:exon19:c.G2442A:p.Q814Q,ENSG00000119121:ENST00000449912:exon19:c.G2427A:p.Q809Q,ENSG00000119121:ENST00000451710:exon19:c.G2442A:p.Q814Q NA NA 9q21.13 Score=817;Name=V$POU3F2_01 NA NA NA rs4145894 0.24 0.24 0.225 0.268371 0.1769 0.5149 0.3919 0.0144 0.364 0.17 0.48 0.33 0.02 0.235 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243172 NA NA 0.182674 0.042215 NA 0.275 NA 6.0720926 1045 11 1606129 1606129 A C exonic KRTAP5-1 NA synonymous SNV KRTAP5-1:NM_001005922:exon1:c.T351G:p.G117G exonic ENSG00000205869 NA synonymous SNV ENSG00000205869:ENST00000382171:exon1:c.T351G:p.G117G Score=349;Name=lod=35 NA 11p15.5 NA NA NA NA rs76191756 0.49 0.49 0.343 0.538538 0.5626 0.4732 0.5173 0.59 0.5266 0.51 0.47 0.49 0.51 0.0325 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294808 NA NA NA NA NA 0.014 NA 6.0715666 1045 13 20356998 20356998 A G intronic PSPC1 NA NA NA UTR5 ENSG00000121390 ENST00000471658:c.-101T>C,ENST00000492741:c.-101T>C,ENST00000338910:c.-101T>C NA NA NA NA 13q12.11 NA Name=Oct-2,Max,ELF1_(SC-631),TAF7_(SQ-8),YY1_(C-20),NRSF,Pol2,Pol2(phosphoS2),POU2F2,TAF1,TBP,c-Myc,NFKB,HEY1,Sin3Ak-20,HA-E2F1,Pol2-4H8,YY1 Name=148 NA rs17086752 0.08 0.08 0.064 0.0816693 0.0954 0.0804 0.0692 0.1036 0.0481 0.08 0.06 0.06 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319757 NA NA NA NA NA 0.159 NA 6.0712667 1045 2 74746322 74746322 A T exonic DQX1 NA synonymous SNV DQX1:NM_133637:exon11:c.T1842A:p.L614L exonic ENSG00000144045 NA synonymous SNV ENSG00000144045:ENST00000393951:exon11:c.T1842A:p.L614L,ENSG00000144045:ENST00000404568:exon11:c.T1842A:p.L614L Score=558;Name=lod=247 NA 2p13.1 NA NA NA NA rs6546909 0.49 0.49 0.497 0.523163 0.16 0.8185 0.3213 0.8101 0.3476 0.15 0.82 0.27 0.8 0.2819 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345332 NA NA 0.153953 0.693827 NA 0.428 NA 6.0708136 1045 2 128388790 128388790 G A exonic MYO7B NA synonymous SNV MYO7B:NM_001080527:exon36:c.G4869A:p.E1623E exonic ENSG00000169994 NA synonymous SNV ENSG00000169994:ENST00000409090:exon12:c.G1428A:p.E476E,ENSG00000169994:ENST00000409816:exon35:c.G4869A:p.E1623E,ENSG00000169994:ENST00000389524:exon36:c.G4869A:p.E1623E,ENSG00000169994:ENST00000428314:exon36:c.G4869A:p.E1623E Score=329;Name=lod=29 NA 2q14.3 NA NA NA NA rs13025791 0.14 0.14 0.12 0.168131 0.2018 0.1349 0.1239 0.0499 0.3589 0.2 0.15 0.13 0.05 0.2085 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890913 NA NA 0.186879 0.074463 ID=COSM441095,COSM441096;OCCURENCE=1(breast) 0.109 NA 6.0694876 1045 15 64011104 64011104 T C intronic HERC1 NA NA NA intronic ENSG00000103657 NA NA NA Score=696;Name=lod=898 NA 15q22.31 NA Name=CEBPB,GR,Mxi1_(bHLH),BRCA1_(C-1863),p300_(N-15),TBP,STAT3,RFX5_(N-494),c-Fos,c-Jun,JunD Name=98 NA rs7176133 0.21 0.21 0.217 0.19349 0.341 0.005 0.1801 0.1778 0.2669 0.37 0.0035 0.22 0.2 0.2729 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179925 NA NA 0.317505 0.197019 NA 0.21 NA 6.068595 1045 3 184039666 184039666 A G exonic EIF4G1 NA nonsynonymous SNV EIF4G1:NM_004953:exon3:c.A706G:p.M236V,EIF4G1:NM_198242:exon6:c.A802G:p.M268V,EIF4G1:NM_198244:exon7:c.A1033G:p.M345V,EIF4G1:NM_182917:exon9:c.A1294G:p.M432V,EIF4G1:NM_001194947:exon10:c.A1315G:p.M439V,EIF4G1:NM_198241:exon10:c.A1294G:p.M432V,EIF4G1:NM_001194946:exon11:c.A1315G:p.M439V exonic ENSG00000114867 NA nonsynonymous SNV ENSG00000114867:ENST00000434061:exon3:c.A706G:p.M236V,ENSG00000114867:ENST00000435046:exon3:c.A706G:p.M236V,ENSG00000114867:ENST00000441154:exon4:c.A802G:p.M268V,ENSG00000114867:ENST00000457456:exon4:c.A706G:p.M236V,ENSG00000114867:ENST00000444861:exon5:c.A802G:p.M268V,ENSG00000114867:ENST00000350481:exon6:c.A802G:p.M268V,ENSG00000114867:ENST00000392537:exon7:c.A1033G:p.M345V,ENSG00000114867:ENST00000411531:exon7:c.A1174G:p.M392V,ENSG00000114867:ENST00000427845:exon7:c.A1033G:p.M345V,ENSG00000114867:ENST00000319274:exon9:c.A1294G:p.M432V,ENSG00000114867:ENST00000342981:exon9:c.A1294G:p.M432V,ENSG00000114867:ENST00000424196:exon9:c.A1315G:p.M439V,ENSG00000114867:ENST00000426123:exon9:c.A1117G:p.M373V,ENSG00000114867:ENST00000450424:exon9:c.A1294G:p.M432V,ENSG00000114867:ENST00000346169:exon10:c.A1294G:p.M432V,ENSG00000114867:ENST00000352767:exon10:c.A1315G:p.M439V,ENSG00000114867:ENST00000414031:exon10:c.A1174G:p.M392V,ENSG00000114867:ENST00000421110:exon10:c.A1315G:p.M439V,ENSG00000114867:ENST00000382330:exon11:c.A1315G:p.M439V NA NA 3q27.1 NA NA NA NA rs2178403 0.78 0.78 0.801 0.782348 0.7525 0.6528 0.7968 0.9834 0.6646 0.76 0.65 0.78 0.97 0.7554 0.97 0.36 T 0.0 B 0.0 B 0.110 N 1.000 P -0.69 N 1.64 T -0.946 T 0.000 T 0.172 -3.351 0.001 2.77 0.310 0.724 2.972 -3.351449 NA 0.38 0.757907 0.94394 NA 0.855 NA 6.0675264 1045 4 69094507 69094507 T A exonic TMPRSS11B NA nonsynonymous SNV TMPRSS11B:NM_182502:exon9:c.A1042T:p.T348S exonic ENSG00000185873 NA nonsynonymous SNV ENSG00000185873:ENST00000332644:exon9:c.A1042T:p.T348S NA NA 4q13.2 NA NA NA NA rs2319797 0.72 0.72 0.701 0.71845 0.7306 0.9901 0.6023 0.4297 0.8988 0.73 0.99 0.65 0.42 0.7564 0.99 0.16 T 0.316 B 0.076 B 0.329 N 1.000 P -0.175 N -3.04 D -0.995 T 0.000 T 0.078 -0.248 2.807 0.489 0.362 -0.054 2.672 -0.24795 NA 0.89 0.77907 0.522923 NA 0.696 NA 6.0672634 1045 10 99219885 99219885 G A exonic MMS19 NA synonymous SNV MMS19:NM_022362:exon26:c.C2574T:p.A858A exonic ENSG00000155229 NA synonymous SNV ENSG00000155229:ENST00000327238:exon24:c.C2280T:p.A760A,ENSG00000155229:ENST00000355839:exon25:c.C2445T:p.A815A,ENSG00000155229:ENST00000438925:exon26:c.C2574T:p.A858A,ENSG00000155229:ENST00000370782:exon27:c.C2574T:p.A858A NA NA 10q24.1 NA NA NA NA rs2152092 0.51 0.51 0.502 0.52516 0.5189 0.5863 0.5548 0.4153 0.5961 0.52 0.59 0.52 0.41 0.537 0.59 . . . . . . . . 0.000 P . . . . -0.920 T 0.000 T . 0.795 8.185 -5.96 -0.885 -0.942 2.905 0.794666 NA NA 0.543605 0.422606 NA 0.326 NA 6.0671616 1045 20 37601243 37601243 A G exonic DHX35 NA synonymous SNV DHX35:NM_021931:exon3:c.A216G:p.T72T exonic ENSG00000101452 NA synonymous SNV ENSG00000101452:ENST00000252011:exon3:c.A216G:p.T72T,ENSG00000101452:ENST00000373325:exon3:c.A216G:p.T72T,ENSG00000101452:ENST00000484417:exon3:c.A216G:p.T72T Score=620;Name=lod=442 NA 20q12 NA NA NA NA rs16987712 0.17 0.17 0.152 0.174521 0.2137 0.1319 0.1499 0.1558 0.2209 0.22 0.12 0.15 0.16 0.1841 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105278 NA NA 0.20186 0.169315 NA 0.167 NA 6.0670066 1045 12 49110582 49110582 C G UTR5 CCNT1 NM_001240:c.-124G>C,NM_001277842:c.-124G>C NA NA UTR5 ENSG00000129315 ENST00000261900:c.-124G>C NA NA NA NA 12q13.12 NA Name=ELF1_(SC-631),BAF170,GTF2F1_(RAP-74),p300,USF2,GABP,TAF1,GATA-1,TR4,IRF4_(M-17),eGFP-JunD,BCLAF1_(M33-P5B11),TAF7_(SQ-8),TCF4,Pol2(phosphoS2),SP1,NRSF,PU.1,ATF3,Mxi1_(bHLH),Pol2,SIX5,SRF,SETDB1,PAX5-C20,NFKB,HEY1,AP-2gamma,STAT2,c-Myc,IRF1,TBP,Nrf1,THAP1_(SC-98174),ELK4,FOXA1_(C-20),AP-2alpha,Pol2(b),Pol2-4H8,ZNF263,Sin3Ak-20,HA-E2F1,Egr-1,NANOG_(SC-33759),RFX5_(N-494) Name=148 NA rs2291728 0.42 0.42 0.387 0.433506 0.2664 0.7748 0.4337 0.2383 0.5174 0.29 0.75 0.43 0.26 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408122 1.408122 NA NA NA NA 0.29 NA 6.0669334 1045 8 120575184 120575184 G A exonic ENPP2 NA synonymous SNV ENPP2:NM_001040092:exon24:c.C2334T:p.F778F,ENPP2:NM_001130863:exon25:c.C2409T:p.F803F,ENPP2:NM_006209:exon25:c.C2490T:p.F830F exonic ENSG00000136960 NA synonymous SNV ENSG00000136960:ENST00000522167:exon13:c.C1239T:p.F413F,ENSG00000136960:ENST00000075322:exon24:c.C2334T:p.F778F,ENSG00000136960:ENST00000259486:exon25:c.C2490T:p.F830F,ENSG00000136960:ENST00000427067:exon25:c.C2397T:p.F799F,ENSG00000136960:ENST00000522826:exon25:c.C2409T:p.F803F Score=554;Name=lod=239 NA 8q24.12 NA NA NA NA rs1058913 0.11 0.11 0.087 0.095647 0.1948 0.0387 0.1326 0.0234 0.1237 0.19 0.04 0.16 0.02 0.1731 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.296779 1.296779 NA 0.232093 0.066273 NA 0.051 NA 6.0666736 1045 15 56959028 56959028 C T exonic ZNF280D NA nonsynonymous SNV ZNF280D:NM_001002843:exon14:c.G1663A:p.V555I,ZNF280D:NM_017661:exon15:c.G1702A:p.V568I exonic ENSG00000137871 NA nonsynonymous SNV ENSG00000137871:ENST00000558067:exon6:c.G814A:p.V272I,ENSG00000137871:ENST00000396245:exon14:c.G814A:p.V272I,ENSG00000137871:ENST00000559237:exon14:c.G1663A:p.V555I,ENSG00000137871:ENST00000560002:exon14:c.G1702A:p.V568I,ENSG00000137871:ENST00000267807:exon15:c.G1702A:p.V568I,ENSG00000137871:ENST00000559000:exon20:c.G1663A:p.V555I NA NA 15q21.3 NA NA NA NA rs28620278 0.5 0.5 0.505 0.527157 0.4066 0.3829 0.6225 0.7141 0.4796 0.38 0.39 0.59 0.75 0.4554 0.75 0.49 T 0.002 B 0.001 B . . 1.000 P 0.55 N 4.5 T -1.089 T 0.000 T 0.017 -0.568 1.441 -0.931 -0.282 -0.286 6.768 -0.567698 NA 0.35 0.405522 0.63937 NA 0.551 NA 6.0658114 1045 15 101109818 101109818 G A exonic LINS NA synonymous SNV LINS:NM_001040616:exon7:c.C1899T:p.D633D exonic ENSG00000140471 NA synonymous SNV ENSG00000140471:ENST00000314742:exon7:c.C1899T:p.D633D Score=443;Name=lod=84 NA 15q26.3 NA NA Name=12 NA rs12460 0.47 0.47 0.476 0.45627 0.5378 0.4911 0.4337 0.3661 0.4744 0.55 0.48 0.46 0.36 0.5056 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22343 NA NA 0.557791 0.393554 NA 0.471 NA 6.0654756 1046 6 33740325 33740325 G C UTR3 LEMD2 NM_181336:c.*80C>G,NM_001143944:c.*80C>G NA NA UTR3 ENSG00000161904 ENST00000293760:c.*80C>G,ENST00000506578:c.*80C>G,ENST00000421671:c.*853C>G,ENST00000508327:c.*80C>G NA NA NA NA 6p21.31 NA Name=ERalpha_a,GATA-2,c-Fos Name=56 NA rs11755593 0.21 0.21 0.192 0.20008 0.2694 0.12 0.3444 0.1369 0.1943 0.26 0.13 0.36 0.12 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850367 NA NA NA NA NA 0.116 NA 6.0639334 1046 11 12183846 12183846 C T exonic MICAL2 NA synonymous SNV MICAL2:NM_014632:exon3:c.C144T:p.N48N exonic ENSG00000133816 NA synonymous SNV ENSG00000133816:ENST00000379612:exon1:c.C144T:p.N48N,ENSG00000133816:ENST00000533389:exon1:c.C144T:p.N48N,ENSG00000133816:ENST00000342902:exon2:c.C144T:p.N48N,ENSG00000133816:ENST00000524685:exon2:c.C144T:p.N48N,ENSG00000133816:ENST00000525119:exon2:c.C144T:p.N48N,ENSG00000133816:ENST00000527546:exon2:c.C144T:p.N48N,ENSG00000133816:ENST00000532179:exon2:c.C144T:p.N48N,ENSG00000133816:ENST00000532420:exon2:c.C144T:p.N48N,ENSG00000133816:ENST00000256194:exon3:c.C144T:p.N48N,ENSG00000133816:ENST00000526065:exon3:c.C144T:p.N48N,ENSG00000133816:ENST00000537344:exon3:c.C144T:p.N48N Score=666;Name=lod=680 NA 11p15.3 NA NA NA NA rs28625145 0.18 0.18 0.148 0.176717 0.2107 0.1528 0.2118 0.1702 0.1503 0.2 0.14 0.21 0.19 0.1951 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248668 NA NA 0.197136 0.17174 NA 0.145 NA 6.0637306 1046 20 34243017 34243017 C T exonic RBM12 NA synonymous SNV RBM12:NM_001198840:exon2:c.G228A:p.K76K,RBM12:NM_001198838:exon3:c.G228A:p.K76K,RBM12:NM_006047:exon3:c.G228A:p.K76K,RBM12:NM_152838:exon3:c.G228A:p.K76K exonic ENSG00000244462 NA synonymous SNV ENSG00000244462:ENST00000359646:exon2:c.G228A:p.K76K,ENSG00000244462:ENST00000374104:exon3:c.G228A:p.K76K,ENSG00000244462:ENST00000374114:exon3:c.G228A:p.K76K,ENSG00000244462:ENST00000424458:exon3:c.G228A:p.K76K,ENSG00000244462:ENST00000431148:exon3:c.G228A:p.K76K,ENSG00000244462:ENST00000435161:exon3:c.G228A:p.K76K Score=797;Name=lod=2322 NA 20q11.22 NA NA NA NA rs6121015 0.22 0.22 0.227 0.271166 0.1899 0.1339 0.1844 0.4228 0.3528 0.19 0.11 0.22 0.4 0.2229 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536146 NA NA 0.190698 0.393327 NA 0.246 NA 6.0631686 1046 2 105889349 105889349 G A exonic TGFBRAP1 NA synonymous SNV TGFBRAP1:NM_001142621:exon10:c.C1935T:p.L645L,TGFBRAP1:NM_004257:exon10:c.C1935T:p.L645L exonic ENSG00000135966 NA synonymous SNV ENSG00000135966:ENST00000258449:exon9:c.C1935T:p.L645L,ENSG00000135966:ENST00000393359:exon10:c.C1935T:p.L645L Score=383;Name=lod=48 NA 2q12.1 NA NA NA NA rs11676273 0.14 0.14 0.109 0.116214 0.2207 0.0804 0.2219 0.0091 0.1155 0.23 0.07 0.23 0.02 0.1768 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442276 NA NA 0.206744 0.04108 NA 0.116 NA 6.0624226 1046 2 220502367 220502367 A C exonic SLC4A3 NA nonsynonymous SNV SLC4A3:NM_005070:exon17:c.A2600C:p.D867A,SLC4A3:NM_201574:exon17:c.A2681C:p.D894A exonic ENSG00000114923 NA nonsynonymous SNV ENSG00000114923:ENST00000273063:exon17:c.A2681C:p.D894A,ENSG00000114923:ENST00000317151:exon17:c.A2600C:p.D867A,ENSG00000114923:ENST00000358055:exon17:c.A2600C:p.D867A,ENSG00000114923:ENST00000373760:exon17:c.A2600C:p.D867A,ENSG00000114923:ENST00000373762:exon17:c.A2681C:p.D894A NA NA 2q35 NA NA NA NA rs635311 0.72 0.72 0.674 0.677516 0.7624 0.8065 0.7925 0.466 0.6616 0.78 0.84 0.76 0.45 0.7442 0.84 0.18 T 0.0 B 0.0 B 0.000 N 1.000 P -0.66 N -1.12 T -0.924 T 0.000 T 0.093 1.121 9.57 -2.34 -0.231 0.627 2.111 1.120745 NA 0.17 0.764419 0.504312 NA 0.572 NA 6.0623144 1046 2 135711516 135711516 C T exonic CCNT2 NA synonymous SNV CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D exonic ENSG00000082258 NA synonymous SNV ENSG00000082258:ENST00000264157:exon9:c.C1491T:p.D497D,ENSG00000082258:ENST00000295238:exon9:c.C1491T:p.D497D,ENSG00000082258:ENST00000537343:exon10:c.C966T:p.D322D Score=584;Name=lod=315 NA 2q21.3 NA Name=PU.1 NA NA rs3814355 0.72 0.72 0.733 0.732827 0.5457 0.877 0.6427 0.7693 0.7914 0.53 0.9 0.66 0.83 0.5894 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62215 NA NA 0.47 0.713799 NA 0.565 NA 6.0615666 1046 1 32084904 32084904 C T exonic HCRTR1 NA synonymous SNV HCRTR1:NM_001525:exon3:c.C111T:p.R37R exonic ENSG00000121764 NA synonymous SNV ENSG00000121764:ENST00000373705:exon1:c.C111T:p.R37R,ENSG00000121764:ENST00000373706:exon1:c.C111T:p.R37R,ENSG00000121764:ENST00000403528:exon3:c.C111T:p.R37R Score=616;Name=lod=425 NA 1p35.2 Score=896;Name=V$E2F_02 NA NA NA rs1056526 0.35 0.35 0.31 0.352835 0.5636 0.2371 0.4654 0.0794 0.545 0.54 0.26 0.48 0.08 0.4903 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132015 NA NA 0.552326 0.16296 NA 0.413 NA 6.0604406 1046 17 56738919 56738919 G A intronic TEX14 NA NA NA ncRNA_exonic ENSG00000266826 NA NA NA Score=265;Name=lod=16 NA 17q22 NA NA Name=2 NA rs4340382 0.18 0.18 0.177 0.234026 0.0726 0.3036 0.0648 0.3359 0.3108 0.08 0.27 0.07 0.33 0.1373 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781743 NA NA 0.063263 0.258467 NA 0.13 NA 6.0601703 1046 11 82905679 82905679 C T UTR5 ANKRD42 NM_182603:c.-34C>T NA NA UTR5 ENSG00000137494 ENST00000393389:c.-34C>T,ENST00000260047:c.-34C>T,ENST00000526731:c.-34C>T,ENST00000531895:c.-34C>T,ENST00000393392:c.-34C>T NA NA NA NA 11q14.1 NA Name=Pol2,PU.1,GABP,TAF1,BAF155,CEBPB,Max,ELF1_(SC-631),Sin3Ak-20,ZNF263,Ini1,YY1,TBP,c-Myc Name=133 NA rs11233519 0.13 0.13 0.158 0.163938 0.0805 0.0516 0.0865 0.382 0.1258 0.07 0.05 0.09 0.35 0.1067 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.465626 1.465626 NA 0.086279 0.310259 NA 0.196 NA 6.0598544 1046 17 65104666 65104666 T G exonic HELZ NA synonymous SNV HELZ:NM_014877:exon30:c.A4666C:p.R1556R exonic ENSG00000198265 NA synonymous SNV ENSG00000198265:ENST00000358691:exon30:c.A4666C:p.R1556R,ENSG00000198265:ENST00000580168:exon30:c.A4669C:p.R1557R Score=526;Name=lod=183 NA 17q24.2 NA NA Name=4 NA rs11657929 0.67 0.67 0.656 0.71865 0.5189 0.881 0.6239 0.7761 0.7464 0.51 0.88 0.6 0.74 0.6049 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076849 NA NA 0.483235 0.724417 NA 0.652 NA 6.0596316 1046 3 124646594 124646594 A G exonic MUC13 NA nonsynonymous SNV MUC13:NM_033049:exon2:c.T296C:p.I99T exonic ENSG00000173702 NA nonsynonymous SNV ENSG00000173702:ENST00000311075:exon2:c.T296C:p.I99T NA NA 3q21.2 NA NA NA NA rs4679392 0.38 0.38 0.367 0.39377 0.4294 0.2212 0.4496 0.4251 0.453 0.43 0.22 0.47 0.41 0.4221 0.47 0.52 T 0.0 B 0.0 B . . 1.000 P -0.55 N 2.62 T -0.935 T 0.000 T 0.017 -0.404 2.109 1.89 0.230 0.394 4.160 -0.404188 NA 0.33 0.422791 0.453473 ID=COSM149459;OCCURENCE=1(stomach) 0.413 NA 6.0590424 1046 5 54420799 54420799 A C exonic CDC20B NA synonymous SNV CDC20B:NM_001145734:exon9:c.T1047G:p.V349V,CDC20B:NM_001170402:exon9:c.T1047G:p.V349V,CDC20B:NM_152623:exon9:c.T1047G:p.V349V exonic ENSG00000164287 NA synonymous SNV ENSG00000164287:ENST00000296733:exon9:c.T1047G:p.V349V,ENSG00000164287:ENST00000322374:exon9:c.T1047G:p.V349V,ENSG00000164287:ENST00000381375:exon9:c.T1047G:p.V349V Score=349;Name=lod=35 NA 5q11.2 NA NA NA NA rs382402 0.16 0.16 0.111 0.171326 0.2147 0.1915 0.147 0.0424 0.2975 0.22 0.16 0.16 0.05 0.2022 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058083 NA NA 0.190814 0.065365 ID=COSM149837;OCCURENCE=1(stomach) 0.094 NA 6.0589526 1046 9 103054951 103054951 T C exonic INVS NA synonymous SNV INVS:NM_014425:exon14:c.T2412C:p.S804S exonic ENSG00000119509 NA synonymous SNV ENSG00000119509:ENST00000262457:exon14:c.T2412C:p.S804S,ENSG00000119509:ENST00000541287:exon15:c.T2124C:p.S708S Score=385;Name=lod=49 NA 9q31.1 NA NA NA NA rs2787374 0.44 0.44 0.431 0.407348 0.5726 0.1577 0.3516 0.615 0.2536 0.58 0.13 0.4 0.62 0.4676 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.454462 1.454462 NA 0.568023 0.585338 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081629.1;CLNDSDB=.;CLNDSDBID=. 6.0584436 1046 7 142480067 142480067 C T ncRNA_exonic PRSS3P2 NA NA NA ncRNA_exonic ENSG00000250606 NA NA NA Score=531;Name=lod=191 NA 7q34 NA NA Name=14 NA rs201659809 NA NA 0.143 NA NA NA NA NA NA NA NA NA NA 0.6095 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338097 NA 1 NA NA NA NA NA 6.0571666 1046 2 173686798 173686798 A G intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA Score=397;Name=lod=55 NA 2q31.1 NA Name=p300 Name=5 NA rs2258175 0.5 0.5 0.46 0.491014 0.4742 0.5605 0.4813 0.4402 0.5123 0.49 0.58 0.45 0.46 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108093 NA NA 0.469516 0.450867 NA 0.514 NA 6.056284 1046 11 5364742 5364742 C T exonic OR51B5 NA nonsynonymous SNV OR51B5:NM_001005567:exon5:c.G13A:p.G5S exonic ENSG00000242180 NA nonsynonymous SNV ENSG00000242180:ENST00000300773:exon1:c.G13A:p.G5S NA NA 11p15.4 NA NA NA NA rs11036913 0.3 0.3 0.273 0.297724 0.4304 0.2391 0.438 0.0847 0.41 0.42 0.26 0.41 0.09 0.4003 0.45 1 T 0.001 B 0.001 B 0.792 N 1.000 P -1.22 N 5.62 T -0.996 T 0.000 T 0.045 0.285 5.541 0.753 0.005 -0.508 7.448 0.284717 NA 0.47 0.447246 0.152214 NA 0.275 NA 6.0553874 1047 2 165987772 165987772 T G exonic SCN3A NA synonymous SNV SCN3A:NM_001081676:exon16:c.A2400C:p.V800V,SCN3A:NM_001081677:exon16:c.A2400C:p.V800V,SCN3A:NM_006922:exon16:c.A2547C:p.V849V exonic ENSG00000153253 NA synonymous SNV ENSG00000153253:ENST00000440431:exon15:c.A2400C:p.V800V,ENSG00000153253:ENST00000283254:exon16:c.A2547C:p.V849V,ENSG00000153253:ENST00000360093:exon16:c.A2547C:p.V849V,ENSG00000153253:ENST00000409101:exon16:c.A2400C:p.V800V Score=458;Name=lod=97 NA 2q24.3 NA NA NA NA rs62174900 0.19 0.19 0.155 0.181709 0.1968 0.2728 0.1787 0.0234 0.2883 0.19 0.29 0.22 0.03 0.2018 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075427 NA NA 0.213372 0.064458 NA 0.072 NA 6.0546946 1047 1 160062727 160062727 A G exonic IGSF8 NA synonymous SNV IGSF8:NM_052868:exon4:c.T1299C:p.H433H,IGSF8:NM_001206665:exon5:c.T1299C:p.H433H exonic ENSG00000162729 NA synonymous SNV ENSG00000162729:ENST00000314485:exon4:c.T1299C:p.H433H,ENSG00000162729:ENST00000368086:exon4:c.T1299C:p.H433H Score=459;Name=lod=98 NA 1q23.2 NA NA NA NA rs2295621 0.17 0.17 0.131 0.159744 0.1879 0.2232 0.2522 0.0287 0.1769 0.19 0.21 0.22 0.05 0.213 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301134 NA NA 0.212326 0.055379 NA 0.283 NA 6.0534406 1047 1 169529973 169529973 C T exonic F5 NA synonymous SNV F5:NM_000130:exon4:c.G405A:p.A135A exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000367796:exon4:c.G405A:p.A135A,ENSG00000198734:ENST00000367797:exon4:c.G405A:p.A135A NA NA 1q24.2 Score=729;Name=V$SEF1_C NA NA NA rs6029 0.4 0.4 0.407 0.398762 0.1819 0.6647 0.2882 0.584 0.1759 0.17 0.64 0.28 0.56 0.256 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427727 NA NA 0.176395 0.51044 NA 0.377 NA 6.0523716 1047 17 6690829 6690829 G A UTR3 FBXO39 NM_153230:c.*82G>A NA NA UTR3 ENSG00000177294 ENST00000321535:c.*82G>A NA NA NA NA 17p13.1 NA Name=p300 Name=23 NA rs4239266 0.4 0.4 0.384 0.386581 0.2813 0.5813 0.3732 0.3533 0.3487 0.27 0.62 0.36 0.38 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390314 NA NA NA NA NA 0.341 NA 6.0520334 1047 7 16666741 16666741 T G exonic ANKMY2 NA synonymous SNV ANKMY2:NM_020319:exon3:c.A195C:p.L65L exonic ENSG00000106524 NA synonymous SNV ENSG00000106524:ENST00000306999:exon3:c.A195C:p.L65L,ENSG00000106524:ENST00000447802:exon3:c.A195C:p.L65L NA NA 7p21.1 Score=742;Name=V$TCF11MAFG_01 NA NA NA rs11532682 0.18 0.18 0.165 0.139976 0.2187 0.1438 0.2075 0.093 0.0706 0.22 0.16 0.24 0.11 0.1824 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855544 NA NA 0.213953 0.094644 NA 0.101 NA 6.0516136 1047 18 166819 166819 T C exonic USP14 NA synonymous SNV USP14:NM_001037334:exon3:c.T195C:p.N65N,USP14:NM_005151:exon3:c.T195C:p.N65N exonic ENSG00000101557 NA synonymous SNV ENSG00000101557:ENST00000261601:exon3:c.T195C:p.N65N,ENSG00000101557:ENST00000582707:exon3:c.T195C:p.N65N Score=572;Name=lod=281 NA 18p11.32 NA NA NA NA rs563155 0.14 0.14 0.14 0.154553 0.2117 0.006 0.134 0.174 0.2372 0.21 0.0017 0.15 0.2 0.1809 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.156154 2.156154 NA 0.222558 0.176804 NA 0.116 NA 6.0515086 1047 2 37241050 37241050 G A exonic HEATR5B NA synonymous SNV HEATR5B:NM_019024:exon27:c.C4218T:p.S1406S exonic ENSG00000008869 NA synonymous SNV ENSG00000008869:ENST00000233099:exon27:c.C4218T:p.S1406S,ENSG00000008869:ENST00000354531:exon27:c.C4218T:p.S1406S Score=615;Name=lod=423 NA 2p22.2 NA NA NA NA rs17020125 0.27 0.27 0.267 0.260383 0.1948 0.5288 0.2651 0.0484 0.3344 0.22 0.55 0.23 0.05 0.2357 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867076 NA NA 0.184884 0.07626 NA 0.167 NA 6.0512826 1047 2 20202929 20202929 C T exonic MATN3 NA synonymous SNV MATN3:NM_002381:exon3:c.G909A:p.T303T exonic ENSG00000132031 NA synonymous SNV ENSG00000132031:ENST00000407540:exon3:c.G909A:p.T303T NA NA 2p24.1 Score=844;Name=V$ARNT_01 NA NA NA rs28452699 0.15 0.15 0.151 0.145966 0.1978 0.0367 0.1974 0.1407 0.1759 0.2 0.05 0.19 0.17 0.2025 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354892 NA NA 0.215348 0.142009 NA 0.123 NA 6.0510186 1047 22 50313438 50313438 T C exonic CRELD2 NA synonymous SNV CRELD2:NM_001135101:exon3:c.T273C:p.N91N,CRELD2:NM_024324:exon3:c.T273C:p.N91N exonic ENSG00000184164 NA synonymous SNV ENSG00000184164:ENST00000328268:exon3:c.T273C:p.N91N,ENSG00000184164:ENST00000403427:exon3:c.T273C:p.N91N,ENSG00000184164:ENST00000404488:exon3:c.T273C:p.N91N,ENSG00000184164:ENST00000407217:exon3:c.T273C:p.N91N,ENSG00000184164:ENST00000450207:exon4:c.T273C:p.N91N Score=501;Name=lod=145 NA 22q13.33 NA NA NA NA rs9616388 0.22 0.22 0.217 0.2498 0.1978 0.1052 0.1354 0.3994 0.3313 0.21 0.12 0.15 0.4 0.2247 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006267 NA NA 0.195581 0.346661 ID=COSM1484322,COSM149317;OCCURENCE=1(breast),1(stomach) 0.341 NA 6.0485856 1047 1 43047057 43047057 A G exonic CCDC30 NA synonymous SNV CCDC30:NM_001080850:exon8:c.A1092G:p.E364E exonic ENSG00000186409 NA synonymous SNV ENSG00000186409:ENST00000390640:exon4:c.A459G:p.E153E,ENSG00000186409:ENST00000340612:exon7:c.A1092G:p.E364E,ENSG00000186409:ENST00000507855:exon7:c.A459G:p.E153E,ENSG00000186409:ENST00000342022:exon8:c.A1092G:p.E364E,ENSG00000186409:ENST00000428554:exon15:c.A1092G:p.E364E,ENSG00000186409:ENST00000477155:exon15:c.A186G:p.E62E Score=426;Name=lod=72 NA 1p34.2 NA NA NA NA rs12037518 0.2 0.2 0.21 0.278954 0.1879 0.4395 0.1499 0.1702 0.4458 0.16 0.35 0.14 0.12 0.2318 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.974356 NA NA 0.198605 0.179755 NA 0.181 NA 6.0483616 1047 9 123170733 123170733 C G exonic CDK5RAP2 NA nonsynonymous SNV CDK5RAP2:NM_001272039:exon28:c.G3928C:p.V1310L,CDK5RAP2:NM_001011649:exon31:c.G4618C:p.V1540L,CDK5RAP2:NM_018249:exon31:c.G4618C:p.V1540L exonic ENSG00000136861 NA nonsynonymous SNV ENSG00000136861:ENST00000425647:exon9:c.G1648C:p.V550L,ENSG00000136861:ENST00000416449:exon16:c.G2800C:p.V934L,ENSG00000136861:ENST00000359309:exon30:c.G4495C:p.V1499L,ENSG00000136861:ENST00000360822:exon30:c.G4522C:p.V1508L,ENSG00000136861:ENST00000349780:exon31:c.G4618C:p.V1540L,ENSG00000136861:ENST00000360190:exon31:c.G4618C:p.V1540L NA NA 9q33.2 NA NA NA NA rs4837768 0.76 0.76 0.717 0.753195 0.7634 0.8591 0.8429 0.562 0.8282 0.76 0.84 0.84 0.6 0.7691 0.84 0.41 T 0.105 B 0.055 B 0.982 N 1.000 P 0.175 N 1.52 T -1.012 T 0.000 T 0.065 0.382 6.077 -0.555 0.005 -0.083 0.192 0.382491 NA 0.91 0.752674 0.584203 NA 0.783 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_3;CLNREVSTAT=single;CLNACC=RCV000020841.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C1858108:604804:ORPHA2512 6.0481594 1047 17 8139463 8139463 G A exonic CTC1 NA synonymous SNV CTC1:NM_025099:exon6:c.C990T:p.D330D exonic ENSG00000178971 NA synonymous SNV ENSG00000178971:ENST00000315684:exon6:c.C990T:p.D330D,ENSG00000178971:ENST00000449476:exon6:c.C885T:p.D295D NA NA 17p13.1 NA NA NA NA rs74506939 0.12 0.12 0.109 0.0900559 0.2207 0.0337 0.1196 0.0182 0.09 0.23 0.03 0.15 0.03 0.1669 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.605656 NA NA 0.231036 0.046227 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116842.2;CLNDSDB=.;CLNDSDBID=. 6.0480306 1047 20 48259034 48259034 A G exonic B4GALT5 NA synonymous SNV B4GALT5:NM_004776:exon5:c.T577C:p.L193L exonic ENSG00000158470 NA synonymous SNV ENSG00000158470:ENST00000371711:exon5:c.T577C:p.L193L Score=509;Name=lod=156 NA 20q13.13 NA NA Name=9 NA rs2235855 0.41 0.41 0.413 0.446685 0.5547 0.3948 0.4395 0.267 0.637 0.54 0.36 0.48 0.23 0.5121 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750924 NA NA 0.552326 0.330232 NA 0.565 NA 6.0475406 1047 1 169529826 169529826 C A exonic F5 NA synonymous SNV F5:NM_000130:exon4:c.G552T:p.S184S exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000546081:exon3:c.G141T:p.S47S,ENSG00000198734:ENST00000367796:exon4:c.G552T:p.S184S,ENSG00000198734:ENST00000367797:exon4:c.G552T:p.S184S Score=508;Name=lod=155 NA 1q24.2 NA NA NA NA rs6022 0.41 0.41 0.437 0.417732 0.1819 0.6647 0.2911 0.6543 0.1759 0.17 0.64 0.29 0.62 0.2614 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629263 NA NA 0.176395 0.574444 NA 0.399 NA 6.0469716 1047 6 24437458 24437458 T C exonic GPLD1 NA nonsynonymous SNV GPLD1:NM_001503:exon21:c.A2080G:p.M694V exonic ENSG00000112293 NA nonsynonymous SNV ENSG00000112293:ENST00000230036:exon21:c.A2080G:p.M694V NA NA 6p22.3 NA NA NA NA rs1042303 0.33 0.33 0.336 0.30611 0.4364 0.253 0.3386 0.2549 0.273 0.43 0.23 0.35 0.28 0.3875 0.46 0.63 T 0.0 B 0.001 B 0.005 N 0.005 P 0.82 L -0.15 T -1.069 T 0.043 T 0.086 -0.061 3.704 0.898 0.068 0.711 4.862 -0.060886 NA 0.86 0.462674 0.285747 NA 0.319 NA 6.0467594 1047 12 55863381 55863381 A G exonic OR6C70 NA nonsynonymous SNV OR6C70:NM_001005499:exon1:c.T542C:p.L181P exonic ENSG00000184954 NA nonsynonymous SNV ENSG00000184954:ENST00000327335:exon1:c.T542C:p.L181P NA NA 12q13.2 NA NA NA NA rs10747756 0.84 0.84 0.854 0.829872 0.7525 0.8929 0.7723 0.972 0.6933 0.74 0.91 0.77 0.97 0.7713 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.81 N 8.99 T -0.991 T 0.000 T 0.044 -3.374 0.001 3.16 0.481 0.828 7.131 -3.373569 NA 1 0.762907 0.931003 NA 0.884 NA 6.0466264 1047 6 2784571 2784571 G A exonic WRNIP1 NA synonymous SNV WRNIP1:NM_020135:exon6:c.G1656A:p.P552P,WRNIP1:NM_130395:exon6:c.G1581A:p.P527P exonic ENSG00000124535 NA synonymous SNV ENSG00000124535:ENST00000380764:exon5:c.G504A:p.P168P,ENSG00000124535:ENST00000380769:exon6:c.G996A:p.P332P,ENSG00000124535:ENST00000380771:exon6:c.G1581A:p.P527P,ENSG00000124535:ENST00000380773:exon6:c.G1656A:p.P552P NA NA 6p25.2 NA NA Name=15 NA rs160703 0.19 0.19 0.16 0.210064 0.1968 0.256 0.2147 0.0968 0.3262 0.2 0.26 0.18 0.09 0.2273 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993755 NA NA 0.196395 0.105311 NA 0.152 NA 6.0461716 1047 1 196946775 196946775 T C UTR5 CFHR5 NM_030787:c.-20T>C NA NA exonic ENSG00000134389 NA nonsynonymous SNV ENSG00000134389:ENST00000367414:exon1:c.T53C:p.I18T NA NA 1q31.3 NA NA NA NA rs9427662 0.14 0.14 0.158 0.176917 0.0845 NA 0.1081 0.4781 0.0961 0.08 NA 0.09 0.43 0.1108 0.43 0.27 T . . . . . . 1.000 P . . 1.5 T -0.911 T 0.000 T 0.112 0.282 5.526 0.199 0.035 0.028 3.162 0.282056 NA 0 0.092114 0.425783 NA 0.174 NA 6.0459194 1047 1 42915727 42915727 C G exonic ZMYND12 NA synonymous SNV ZMYND12:NM_032257:exon2:c.G114C:p.G38G exonic ENSG00000066185 NA synonymous SNV ENSG00000066185:ENST00000372565:exon2:c.G114C:p.G38G Score=385;Name=lod=49 NA 1p34.2 NA NA NA NA rs12047095 0.24 0.24 0.213 0.283147 0.1879 0.4355 0.1571 0.1778 0.456 0.19 0.39 0.16 0.18 0.2358 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15295 NA NA 0.197442 0.187699 NA 0.21 NA 6.0455246 1047 4 160277276 160277276 C T exonic RAPGEF2 NA synonymous SNV RAPGEF2:NM_014247:exon23:c.C4440T:p.P1480P exonic ENSG00000109756 NA synonymous SNV ENSG00000109756:ENST00000264431:exon23:c.C4440T:p.P1480P Score=429;Name=lod=74 NA 4q32.1 Score=781;Name=V$PPARG_03 NA NA NA rs1135004 0.37 0.37 0.319 0.35004 0.5497 0.0982 0.5519 0.2352 0.4162 0.57 0.1 0.57 0.24 0.4918 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126819 NA NA 0.579774 0.259644 NA 0.413 NA 6.0453926 1047 7 77469486 77469486 C T UTR5 PHTF2 NM_020432:c.-87C>T,NM_001127359:c.-87C>T,NM_001127357:c.-87C>T NA NA UTR5 ENSG00000006576 ENST00000416283:c.-87C>T,ENST00000450574:c.-87C>T NA NA Score=369;Name=lod=42 NA 7q11.23 NA Name=BRF2 NA NA rs17807802 0.19 0.19 0.166 0.190695 0.2883 0.1429 0.2118 0.0666 0.2924 0.29 0.16 0.18 0.07 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312526 NA NA NA NA NA 0.196 NA 6.0450334 1048 17 5991344 5991344 C T exonic WSCD1 NA synonymous SNV WSCD1:NM_015253:exon3:c.C462T:p.H154H exonic ENSG00000179314 NA synonymous SNV ENSG00000179314:ENST00000573634:exon2:c.C114T:p.H38H,ENSG00000179314:ENST00000317744:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000539421:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000574232:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000574946:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000576083:exon3:c.C462T:p.H154H Score=340;Name=lod=32 NA 17p13.2 Score=761;Name=V$YY1_02 NA NA NA rs2302836 0.52 0.52 0.489 0.526757 0.5338 0.8204 0.5259 0.1611 0.7117 0.54 0.81 0.52 0.15 0.5546 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67185 NA NA 0.533372 0.22197 NA 0.457 NA 6.0448946 1048 2 215901774 215901774 C T exonic ABCA12 NA synonymous SNV ABCA12:NM_173076:exon8:c.G888A:p.V296V exonic ENSG00000144452 NA synonymous SNV ENSG00000144452:ENST00000272895:exon8:c.G888A:p.V296V Score=544;Name=lod=216 NA 2q35 NA NA NA NA rs17501837 0.26 0.26 0.244 0.223442 0.2058 0.4127 0.2565 0.1354 0.1421 0.2 0.43 0.22 0.17 0.2057 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356195 NA NA 0.210465 0.149342 ID=COSM50991;OCCURENCE=1(breast) 0.225 NA 6.0447016 1048 1 227149203 227149203 G A exonic ADCK3 NA synonymous SNV ADCK3:NM_020247:exon2:c.G117A:p.A39A exonic ENSG00000163050 NA synonymous SNV ENSG00000163050:ENST00000366777:exon2:c.G117A:p.A39A,ENSG00000163050:ENST00000366779:exon7:c.G117A:p.A39A NA NA 1q42.13 NA NA NA NA rs11549708 0.11 0.11 0.109 0.0806709 0.2187 0.001 0.111 0.031 0.0665 0.21 0.0017 0.14 0.04 0.1643 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.077596 NA NA 0.239009 0.055606 NA 0.145 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116234.2;CLNDSDB=.;CLNDSDBID=. 6.0446576 1048 12 81627238 81627238 C T exonic ACSS3 NA synonymous SNV ACSS3:NM_024560:exon13:c.C1707T:p.G569G exonic ENSG00000111058 NA synonymous SNV ENSG00000111058:ENST00000548324:exon8:c.C753T:p.G251G,ENSG00000111058:ENST00000261206:exon13:c.C1704T:p.G568G,ENSG00000111058:ENST00000548058:exon13:c.C1707T:p.G569G Score=483;Name=lod=122 NA 12q21.31 NA NA NA NA rs1921038 0.2 0.2 0.202 0.176917 0.2207 0.2321 0.1801 0.1029 0.1728 0.25 0.22 0.2 0.1 0.1899 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002892 NA NA 0.21314 0.122333 NA 0.181 NA 6.0429266 1048 7 155530954 155530954 T C exonic RBM33 NA synonymous SNV RBM33:NM_053043:exon11:c.T1594C:p.L532L exonic ENSG00000184863 NA synonymous SNV ENSG00000184863:ENST00000401878:exon11:c.T1594C:p.L532L NA NA 7q36.3 Score=796;Name=V$PPARG_03 NA NA NA rs2178428 0.31 0.31 0.305 0.317492 0.1869 0.3125 0.2695 0.5492 0.1779 0.19 0.34 0.28 0.5 0.2443 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6085 NA NA 0.193203 0.483181 NA 0.333 NA 6.0422636 1048 16 1591962 1591962 G A exonic TMEM204 NA synonymous SNV TMEM204:NM_024600:exon2:c.G321A:p.T107T,TMEM204:NM_001256541:exon3:c.G321A:p.T107T exonic ENSG00000131634 NA synonymous SNV ENSG00000131634:ENST00000566264:exon2:c.G321A:p.T107T,ENSG00000131634:ENST00000253934:exon3:c.G321A:p.T107T NA NA 16p13.3 Score=751;Name=V$HEN1_02 NA NA NA rs2076443 0.28 0.28 0.273 0.30631 0.1918 0.3423 0.1599 0.4228 0.3333 0.2 0.31 0.19 0.43 0.2388 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180346 NA NA 0.194229 0.360223 ID=COSM434706;OCCURENCE=1(breast) 0.275 NA 6.0418376 1048 16 718514 718514 C G exonic RHOT2 NA synonymous SNV RHOT2:NM_138769:exon3:c.C123G:p.T41T exonic ENSG00000140983 NA nonsynonymous SNV ENSG00000140983:ENST00000566214:exon3:c.C118G:p.H40D Score=487;Name=lod=127 NA 16p13.3 NA NA Name=14 NA rs7204542 0.54 0.54 0.551 0.546725 0.662 0.3175 0.5461 0.612 0.5767 0.65 0.31 0.56 0.63 0.6072 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.820155 1.820155 NA 0.688965 0.667454 ID=COSM435726;OCCURENCE=2(breast),1(large_intestine) 0.413 NA 6.041835 1048 5 149457678 149457678 G A exonic CSF1R NA synonymous SNV CSF1R:NM_005211:exon5:c.C726T:p.T242T exonic ENSG00000182578 NA synonymous SNV ENSG00000182578:ENST00000504875:exon4:c.C726T:p.T242T,ENSG00000182578:ENST00000543093:exon4:c.C726T:p.T242T,ENSG00000182578:ENST00000286301:exon5:c.C726T:p.T242T Score=309;Name=lod=24 NA 5q32 Score=886;Name=V$RORA1_01 NA NA NA rs2228422 0.38 0.38 0.371 0.38738 0.5457 0.2113 0.366 0.2799 0.5665 0.57 0.19 0.38 0.31 0.5153 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161873 NA NA 0.565581 0.315025 ID=COSM149992;OCCURENCE=1(stomach) 0.391 NA 6.0400856 1048 12 3310335 3310335 C T intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA Score=704;Name=lod=964 NA 12p13.32 Score=849;Name=V$GR_Q6 NA Name=12 NA rs740777 0.32 0.32 0.3 0.29972 0.3201 0.2847 0.3977 0.2806 0.2505 0.31 0.3 0.38 0.3 0.3278 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.289436 2.289436 NA 0.312093 0.299138 NA 0.406 NA 6.040007 1048 1 175097864 175097864 G A exonic TNN NA synonymous SNV TNN:NM_022093:exon15:c.G3312A:p.T1104T exonic ENSG00000120332 NA synonymous SNV ENSG00000120332:ENST00000239462:exon15:c.G3312A:p.T1104T Score=555;Name=lod=240 NA 1q25.1 NA NA NA NA rs12022593 0.2 0.2 0.192 0.175519 0.1948 0.2609 0.1643 0.1082 0.1667 0.2 0.28 0.16 0.13 0.2162 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72768 NA NA 0.215814 0.119156 NA 0.138 NA 6.0398526 1048 1 177929987 177929987 T C exonic SEC16B NA nonsynonymous SNV SEC16B:NM_033127:exon7:c.A875G:p.H292R exonic ENSG00000120341,ENSG00000254154 NA nonsynonymous SNV ENSG00000120341:ENST00000308284:exon7:c.A875G:p.H292R,ENSG00000120341:ENST00000464631:exon7:c.A878G:p.H293R,ENSG00000254154:ENST00000528461:exon7:c.A875G:p.H292R NA NA 1q25.2 NA NA NA NA rs12040910 0.8 0.8 0.802 0.809904 0.7485 0.8075 0.7882 0.8941 0.7771 0.75 0.79 0.79 0.9 0.7723 0.9 0.36 T 0.0 B 0.001 B 0.670 N 1.000 P -0.345 N 1.01 T -1.024 T 0.000 T 0.052 1.184 9.814 2.46 0.336 0.146 6.825 1.184081 NA 0.86 0.772727 0.869738 NA 0.819 NA 6.0398064 1048 17 6560578 6560578 A C upstream ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=1750;dist=27454 NA NA Score=278;Name=lod=18 NA 17p13.1 NA Name=ELF1_(SC-631),CTCF,TAF1,GABP,Pol2 Name=21 NA rs3894313 0.57 0.57 0.49 0.601238 0.4602 0.7063 0.5605 0.6626 0.5838 0.45 0.68 0.54 0.66 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453722 NA NA NA NA NA 0.616 NA 6.0398 1048 17 6560691 6560691 T G upstream ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=1863;dist=27341 NA NA Score=376;Name=lod=45 NA 17p13.1 NA Name=CTCF,ELF1_(SC-631),Pol2,GABP,TAF1 Name=21 NA rs2309597 0.52 0.52 0.333 0.601438 0.4602 0.7073 0.5605 0.6626 0.5838 0.4 0.63 0.51 0.61 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63534 NA NA NA NA NA NA NA 6.0398 1048 11 76814110 76814110 G A exonic OMP NA synonymous SNV OMP:NM_006189:exon1:c.G225A:p.P75P exonic ENSG00000254550 NA synonymous SNV ENSG00000254550:ENST00000529803:exon1:c.G225A:p.P75P NA NA 11q13.5 Score=957;Name=V$P53_02 NA NA NA rs2233549 0.22 0.22 0.18 0.239417 0.2107 0.2321 0.2061 0.1952 0.3599 0.2 0.23 0.22 0.21 0.2206 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389234 NA NA 0.195902 0.181943 NA 0.246 NA 6.0394646 1048 6 32522634 32522634 T C ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA NA NA 6p21.32 Score=876;Name=V$YY1_01 Name=PAX5-C20 NA NA rs34645444 0.61 0.61 0.535 0.649561 0.6282 0.6587 0.6542 0.7201 0.5634 0.59 0.6 0.62 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.164242 NA NA NA NA NA 0.007 NA 6.0384666 1048 10 129871690 129871690 A G exonic PTPRE NA synonymous SNV PTPRE:NM_130435:exon14:c.A1380G:p.K460K,PTPRE:NM_006504:exon17:c.A1554G:p.K518K exonic ENSG00000132334 NA synonymous SNV ENSG00000132334:ENST00000306042:exon14:c.A1380G:p.K460K,ENSG00000132334:ENST00000419012:exon16:c.A1554G:p.K518K,ENSG00000132334:ENST00000254667:exon17:c.A1554G:p.K518K Score=594;Name=lod=345 NA 10q26.2 NA NA NA NA rs2275803 0.24 0.24 0.221 0.258786 0.2018 0.2599 0.2435 0.2829 0.2945 0.19 0.27 0.19 0.3 0.223 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073981 NA NA 0.203721 0.266909 ID=COSM147089;OCCURENCE=1(stomach) 0.159 NA 6.0381456 1048 21 43522349 43522349 T C exonic UMODL1 NA synonymous SNV UMODL1:NM_001004416:exon8:c.T1260C:p.S420S,UMODL1:NM_001199527:exon8:c.T1044C:p.S348S,UMODL1:NM_001199528:exon8:c.T1044C:p.S348S,UMODL1:NM_173568:exon8:c.T1260C:p.S420S exonic ENSG00000177398 NA synonymous SNV ENSG00000177398:ENST00000400424:exon8:c.T1044C:p.S348S,ENSG00000177398:ENST00000400427:exon8:c.T1044C:p.S348S,ENSG00000177398:ENST00000408910:exon8:c.T1260C:p.S420S,ENSG00000177398:ENST00000408989:exon8:c.T1260C:p.S420S NA NA 21q22.3 NA Name=PAX5-C20 Name=34 NA rs220109 0.55 0.55 0.546 0.542332 0.5358 0.5813 0.6484 0.4516 0.5562 0.54 0.57 0.6 0.49 0.5498 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051027 NA 0 0.54332 0.485371 NA 0.551 NA 6.0377466 1048 1 19578053 19578053 C G UTR5 EMC1 NM_001271429:c.-50G>C,NM_001271428:c.-50G>C,NM_001271427:c.-50G>C,NM_015047:c.-50G>C NA NA UTR5 ENSG00000053372 ENST00000330263:c.-277C>G NA NA NA NA 1p36.13 NA Name=POU2F2,E2F4,HMGN3,E2F6_(H-50),TAF1,Pol2(b),Znf143_(16618-1-AP),Sin3Ak-20,YY1_(C-20),HA-E2F1,Pol2-4H8,E2F6,ZNF263,KAP1,SP1,PU.1,Pol2,Egr-1,YY1,Ini1,Pol2(phosphoS2),PAX5-C20,Oct-2,c-Myc,CCNT2,Max,NFKB,HEY1,TBP,CHD2_(N-1250),GTF2F1_(RAP-74),IRF1,TCF12 Name=148 NA rs6680255 0.14 0.14 0.14 0.142372 0.1004 NA 0.0922 0.407 0.0102 0.1 NA 0.1 0.39 0.0981 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.831951 1.831951 NA 0.097859 0.365498 NA 0.167 NA 6.0369744 1048 16 84695280 84695280 A G exonic KLHL36 NA synonymous SNV KLHL36:NM_024731:exon5:c.A1392G:p.L464L exonic ENSG00000135686 NA synonymous SNV ENSG00000135686:ENST00000258157:exon4:c.A1203G:p.L401L,ENSG00000135686:ENST00000564996:exon5:c.A1392G:p.L464L Score=496;Name=lod=138 NA 16q24.1 NA NA NA NA rs17755815 0.19 0.19 0.202 0.177117 0.2068 0.0347 0.1081 0.3714 0.0798 0.23 0.04 0.12 0.36 0.196 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250988 1.250988 NA 0.227442 0.35698 ID=COSM435879;OCCURENCE=1(breast) 0.246 NA 6.0364246 1048 11 1774666 1774666 T C UTR3 CTSD NM_001909:c.*67A>G NA NA UTR3 ENSG00000117984 ENST00000236671:c.*67A>G,ENST00000433655:c.*472A>G,ENST00000429746:c.*67A>G NA NA NA NA 11p15.5 NA Name=Egr-1 Name=5 NA rs12214 0.19 0.19 0.194 0.200479 0.2972 0.1042 0.1542 0.1422 0.3119 0.29 0.11 0.17 0.16 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354237 NA NA NA NA NA 0.167 NA 6.0361334 1048 3 101133155 101133155 T C intronic SENP7 NA NA NA ncRNA_exonic ENSG00000232830 NA NA NA Score=655;Name=lod=612 NA 3q12.3 NA NA Name=6 NA rs7622940 0.32 0.32 0.302 0.297524 0.2972 0.373 0.3184 0.2542 0.2638 0.28 0.41 0.35 0.25 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645842 NA 0.03 NA NA NA 0.268 NA 6.0361333 1048 3 100617680 100617680 C T exonic ABI3BP NA synonymous SNV ABI3BP:NM_015429:exon4:c.G408A:p.S136S exonic ENSG00000154175 NA synonymous SNV ENSG00000154175:ENST00000527258:exon3:c.G165A:p.S55S,ENSG00000154175:ENST00000530539:exon3:c.G228A:p.S76S,ENSG00000154175:ENST00000284322:exon4:c.G408A:p.S136S,ENSG00000154175:ENST00000471714:exon4:c.G408A:p.S136S,ENSG00000154175:ENST00000495063:exon4:c.G408A:p.S136S NA NA 3q12.2 Score=837;Name=V$ELK1_01 NA Name=12 NA rs2245370 0.75 0.75 0.696 0.728035 0.5239 0.9335 0.6715 0.7519 0.7342 0.61 0.94 0.65 0.81 0.6168 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086274 NA NA 0.490118 0.704717 NA 0.63 NA 6.0358486 1049 4 5642274 5642274 T C exonic EVC2 NA synonymous SNV EVC2:NM_001166136:exon10:c.A1197G:p.E399E,EVC2:NM_147127:exon10:c.A1437G:p.E479E exonic ENSG00000173040 NA synonymous SNV ENSG00000173040:ENST00000310917:exon10:c.A1197G:p.E399E,ENSG00000173040:ENST00000344408:exon10:c.A1437G:p.E479E,ENSG00000173040:ENST00000344938:exon10:c.A1437G:p.E479E,ENSG00000173040:ENST00000475313:exon10:c.A1197G:p.E399E,ENSG00000173040:ENST00000509670:exon11:c.A1197G:p.E399E Score=358;Name=lod=38 NA 4p16.2 NA NA NA NA rs13131655 0.22 0.22 0.256 0.230032 0.2237 0.001 0.1542 0.5318 0.1186 0.2 0.0017 0.18 0.53 0.1978 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014421 NA NA 0.210349 0.460054 NA 0.261 NA 6.0348176 1049 3 196460680 196460680 C T exonic PIGX NA synonymous SNV PIGX:NM_017861:exon6:c.C684T:p.T228T,PIGX:NM_001166304:exon7:c.C738T:p.T246T exonic ENSG00000163964 NA synonymous SNV ENSG00000163964:ENST00000314118:exon6:c.C561T:p.T187T,ENSG00000163964:ENST00000392391:exon6:c.C684T:p.T228T,ENSG00000163964:ENST00000296333:exon7:c.C738T:p.T246T,ENSG00000163964:ENST00000541663:exon8:c.C414T:p.T138T Score=259;Name=lod=15 NA 3q29 NA NA NA NA rs34830136 0.13 0.13 0.132 0.130192 0.2286 0.001 0.1599 0.1241 0.1493 0.21 NA 0.2 0.12 0.1792 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03299 NA NA 0.22407 0.161598 NA 0.13 NA 6.0347966 1049 10 133918420 133918420 G A exonic JAKMIP3 NA synonymous SNV JAKMIP3:NM_001105521:exon1:c.G108A:p.Q36Q exonic ENSG00000188385 NA synonymous SNV ENSG00000188385:ENST00000298622:exon1:c.G108A:p.Q36Q Score=426;Name=lod=72 NA 10q26.3 NA NA NA NA rs11146177 0.17 0.17 0.175 0.161542 0.2008 0.2014 0.1081 0.1293 0.1616 0.21 0.18 0.16 0.1 0.2457 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144271 NA NA 0.1859 0.121227 NA 0.174 NA 6.0342666 1049 1 110210671 110210671 G T UTR5 GSTM2 NM_001142368:c.-67G>T,NM_000848:c.-67G>T NA NA UTR5 ENSG00000213366 ENST00000369827:c.-73G>T,ENST00000442650:c.-67G>T,ENST00000369831:c.-67G>T NA NA NA NA 1p13.3 NA Name=HMGN3,TAF1,USF1_(SC-8983),Egr-1,Pol2,ELF1_(SC-631),ZBTB7A_(SC-34508),TBP,USF-1 Name=130 NA rs625456 0.11 0.11 0.102 0.0998403 0.1501 0.001 0.0807 0.1868 0.046 0.16 NA 0.08 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81941 NA NA 0.149277 0.16763 NA 0.116 NA 6.0339564 1049 16 23677006 23677006 A G exonic DCTN5 NA synonymous SNV DCTN5:NM_001199743:exon5:c.A408G:p.P136P,DCTN5:NM_032486:exon5:c.A408G:p.P136P exonic ENSG00000166847 NA synonymous SNV ENSG00000166847:ENST00000566298:exon4:c.A282G:p.P94P,ENSG00000166847:ENST00000300087:exon5:c.A408G:p.P136P,ENSG00000166847:ENST00000563998:exon5:c.A408G:p.P136P,ENSG00000166847:ENST00000568589:exon5:c.A408G:p.P136P Score=525;Name=lod=181 NA 16p12.2 NA NA NA NA rs35586 0.25 0.25 0.221 0.233626 0.2117 0.4355 0.1758 0.1021 0.2669 0.21 0.43 0.2 0.11 0.2191 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22319 NA 0.04 0.202093 0.117433 NA 0.246 NA 6.0337736 1049 16 961051 961051 C T exonic LMF1 NA synonymous SNV LMF1:NM_022773:exon4:c.G543A:p.G181G exonic ENSG00000103227 NA synonymous SNV ENSG00000103227:ENST00000566627:exon3:c.G42A:p.G14G,ENSG00000103227:ENST00000262301:exon4:c.G543A:p.G181G,ENSG00000103227:ENST00000399843:exon4:c.G543A:p.G181G,ENSG00000103227:ENST00000570014:exon4:c.G216A:p.G72G NA NA 16p13.3 Score=805;Name=V$STAT5A_02 NA NA NA rs2277893 0.32 0.32 0.312 0.381989 0.1769 0.3056 0.3631 0.5613 0.4427 0.18 0.27 0.31 0.59 0.2742 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641223 NA NA 0.182521 0.476382 ID=COSM148000;OCCURENCE=1(stomach) 0.268 NA 6.0330456 1049 6 160543123 160543123 T C exonic SLC22A1 NA synonymous SNV SLC22A1:NM_003057:exon1:c.T156C:p.S52S,SLC22A1:NM_153187:exon1:c.T156C:p.S52S exonic ENSG00000175003 NA synonymous SNV ENSG00000175003:ENST00000324965:exon1:c.T156C:p.S52S,ENSG00000175003:ENST00000366963:exon1:c.T156C:p.S52S,ENSG00000175003:ENST00000457470:exon1:c.T156C:p.S52S,ENSG00000175003:ENST00000460902:exon1:c.T156C:p.S52S,ENSG00000175003:ENST00000539263:exon1:c.T156C:p.S52S Score=410;Name=lod=62 NA 6q25.3 NA NA NA NA rs1867351 0.28 0.28 0.273 0.28115 0.1849 0.3909 0.2882 0.326 0.2014 0.18 0.41 0.29 0.29 0.2464 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336396 NA NA 0.202558 0.296187 NA 0.29 NA 6.0328086 1049 19 58945089 58945089 A G exonic ZNF132 NA synonymous SNV ZNF132:NM_003433:exon3:c.T1722C:p.N574N exonic ENSG00000131849 NA synonymous SNV ENSG00000131849:ENST00000254166:exon3:c.T1722C:p.N574N NA NA 19q13.43 NA Name=SETDB1 NA NA rs3764529 0.16 0.16 0.156 0.14976 0.2445 0.0546 0.1801 0.118 0.1718 0.23 0.06 0.19 0.15 0.1853 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338818 NA NA 0.204884 0.115297 NA 0.174 NA 6.0319826 1049 9 77684690 77684690 A C exonic NMRK1 NA synonymous SNV NMRK1:NM_017881:exon6:c.T357G:p.T119T exonic ENSG00000106733 NA synonymous SNV ENSG00000106733:ENST00000361092:exon6:c.T357G:p.T119T,ENSG00000106733:ENST00000376811:exon7:c.T369G:p.T123T Score=470;Name=lod=108 NA 9q21.13 NA Name=CEBPB NA NA rs3752955 0.61 0.61 0.619 0.620208 0.5268 0.6776 0.5893 0.7398 0.5174 0.53 0.66 0.55 0.73 0.5644 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.06676 NA NA 0.543488 0.70926 NA 0.536 NA 6.0319786 1049 17 80615643 80615643 G A UTR3 RAB40B NM_006822:c.*96C>T NA NA UTR3 ENSG00000141542 ENST00000571995:c.*96C>T,ENST00000269347:c.*96C>T NA NA NA NA 17q25.3 NA NA NA NA rs3751911 0.18 0.18 0.145 0.186102 0.1392 0.2391 0.2147 0.1089 0.2638 0.13 0.24 0.23 0.14 0.1622 0.24 0 D . . . . . . 1.000 P . . . . -1.027 T 0.000 T . 0.377 6.047 -0.4 -0.064 -0.086 2.909 0.376975 NA NA NA NA NA 0.116 NA 6.0319334 1049 14 101448425 101448425 C G upstream;downstream SNORD114-22;SNORD114-21 NA NA NA ncRNA_intronic ENSG00000271417 NA NA NA NA NA 14q32.31 NA Name=FOSL2,JunD,c-Jun Name=39 NA rs75928883 0.02 0.02 0.024 0.0207668 0.0577 NA 0.0303 0.0023 0.0225 0.06 NA 0.02 0.002 0.0335 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637997 NA NA 0.044199 0.010274 NA 0.029 NA 6.0312676 1049 16 11001743 11001743 G A exonic CIITA NA synonymous SNV CIITA:NM_000246:exon11:c.G2394A:p.P798P exonic ENSG00000179583 NA synonymous SNV ENSG00000179583:ENST00000324288:exon11:c.G2394A:p.P798P NA NA 16p13.13 Score=828;Name=V$NFKB_Q6,V$GR_Q6 NA NA NA rs2229320 0.19 0.19 0.15 0.189297 0.2217 0.3145 0.1499 0.0129 0.2935 0.22 0.31 0.17 0.02 0.2122 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.355289 NA NA 0.20186 0.051867 NA 0.181 NA 6.0309066 1049 1 20915531 20915531 A G UTR5 CDA NM_001785:c.-92A>G NA NA UTR5 ENSG00000158825 ENST00000375071:c.-92A>G NA NA NA NA 1p36.12 NA Name=Pol2,Pol2-4H8,Max,CEBPB Name=34 NA rs602950 0.21 0.21 0.19 0.188698 0.3032 0.122 0.3084 0.0651 0.2219 0.32 0.13 0.28 0.07 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294428 NA NA NA NA NA 0.152 NA 6.0301334 1049 10 54074757 54074757 A G exonic DKK1 NA synonymous SNV DKK1:NM_012242:exon2:c.A318G:p.A106A exonic ENSG00000107984 NA synonymous SNV ENSG00000107984:ENST00000373970:exon2:c.A318G:p.A106A NA NA 10q21.1 NA Name=Pol2,GR Name=58 NA rs2241529 0.52 0.52 0.527 0.525359 0.5417 0.2688 0.464 0.7284 0.5419 0.54 0.3 0.5 0.75 0.5383 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.651395 1.651395 NA 0.557093 0.698366 NA 0.457 NA 6.0295736 1049 16 89180695 89180695 C T intronic ACSF3 NA NA NA ncRNA_exonic ENSG00000261546 NA NA NA NA NA 16q24.3 NA Name=EBF,EBF1_(C-8) Name=8 NA rs8182228 0.1 0.1 0.113 0.086262 0.1541 0.1319 0.0706 0.0076 0.0869 0.16 0.09 0.1 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167052 NA NA 0.149925 0.031963 NA 0.058 NA 6.0293083 1049 7 100371114 100371114 C T exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon29:c.C5632T:p.P1878S,ENSG00000146839:ENST00000542585:exon29:c.C5632T:p.P1878S,ENSG00000146839:ENST00000546292:exon29:c.C5632T:p.P1878S Score=412;Name=lod=63 NA 7q22.1 NA NA NA NA rs314298 0.47 0.47 0.5 0.483826 0.5805 0.1796 0.3833 0.6959 0.4826 0.58 0.15 0.41 0.72 0.5013 0.72 0.06 T 0.288 B 0.094 B 0.893 N 0.000 P 1.7 L 3.33 T -1.035 T 0.000 T 0.212 2.034 12.76 0.249 -0.064 -0.508 2.904 2.034412 2.034412 NA 0.555583 0.691384 ID=COSM1446674,COSM1446673;OCCURENCE=1(large_intestine) 0.551 NA 6.0292837 1049 7 1132456 1132456 C T exonic GPER NA synonymous SNV GPER:NM_001098201:exon2:c.C1092T:p.T364T,GPER:NM_001505:exon2:c.C1092T:p.T364T,GPER:NM_001039966:exon3:c.C1092T:p.T364T exonic ENSG00000164850 NA synonymous SNV ENSG00000164850:ENST00000297469:exon2:c.C1092T:p.T364T,ENSG00000164850:ENST00000397088:exon2:c.C1092T:p.T364T,ENSG00000164850:ENST00000401670:exon2:c.C1092T:p.T364T,ENSG00000164850:ENST00000397092:exon3:c.C1092T:p.T364T NA NA 7p22.3 Score=842;Name=V$HAND1E47_01 NA NA NA rs10246354 0.14 0.14 0.141 0.129193 0.1968 0.0278 0.2032 0.0764 0.183 0.21 0.03 0.18 0.12 0.205 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.78398 NA NA 0.235869 0.098502 NA 0.21 NA 6.0289976 1049 21 43236176 43236176 G A exonic PRDM15 NA synonymous SNV PRDM15:NM_001040424:exon19:c.C2388T:p.H796H,PRDM15:NM_022115:exon26:c.C3375T:p.H1125H exonic ENSG00000141956 NA synonymous SNV ENSG00000141956:ENST00000447207:exon18:c.C2277T:p.H759H,ENSG00000141956:ENST00000398548:exon19:c.C2388T:p.H796H,ENSG00000141956:ENST00000447016:exon19:c.C2277T:p.H759H,ENSG00000141956:ENST00000422911:exon20:c.C2448T:p.H816H,ENSG00000141956:ENST00000538201:exon20:c.C2337T:p.H779H,ENSG00000141956:ENST00000269844:exon26:c.C3375T:p.H1125H,ENSG00000141956:ENST00000433067:exon26:c.C3375T:p.H1125H Score=688;Name=lod=831 NA 21q22.3 NA NA NA NA rs4075967 0.18 0.18 0.181 0.176917 0.1879 0.2054 0.2248 0.1324 0.1626 0.2 0.18 0.22 0.12 0.2175 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975852 NA NA 0.232326 0.154108 NA 0.217 NA 6.0289406 1049 1 85724328 85724328 C T exonic C1orf52 NA synonymous SNV C1orf52:NM_198077:exon2:c.G354A:p.P118P exonic ENSG00000162642 NA synonymous SNV ENSG00000162642:ENST00000344356:exon2:c.G354A:p.P118P,ENSG00000162642:ENST00000471115:exon2:c.G354A:p.P118P NA NA 1p22.3 NA NA Name=45 NA rs4949926 0.22 0.22 0.208 0.22484 0.2078 0.2956 0.3156 0.1271 0.2372 0.2 0.28 0.27 0.14 0.2271 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49744 NA NA 0.20314 0.135724 NA 0.159 NA 6.0286266 1049 7 100693849 100693849 C T exonic MUC17 NA synonymous SNV MUC17:NM_001040105:exon7:c.C12807T:p.T4269T exonic ENSG00000169876 NA synonymous SNV ENSG00000169876:ENST00000306151:exon7:c.C12807T:p.T4269T NA NA 7q22.1 NA Name=MafK_(SC-477) NA NA rs6978780 0.13 0.13 0.132 0.102436 0.2445 0.0288 0.1585 0.028 0.093 0.24 0.04 0.18 0.04 0.1707 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237087 NA NA 0.223023 0.059691 NA 0.094 NA 6.0284436 1049 15 101109677 101109677 C A exonic LINS NA nonsynonymous SNV LINS:NM_001040616:exon7:c.G2040T:p.R680S exonic ENSG00000140471 NA nonsynonymous SNV ENSG00000140471:ENST00000314742:exon7:c.G2040T:p.R680S NA NA 15q26.3 NA NA NA NA rs8451 0.33 0.33 0.344 0.311502 0.4513 0.246 0.2493 0.2375 0.3793 0.46 0.25 0.29 0.25 0.385 0.47 0.36 T 0.023 B 0.013 B 0.204 N 1.000 P 0.975 L 2.93 T -0.928 T 0.000 T 0.115 2.243 13.46 0.38 0.292 -0.310 5.997 2.243482 2.243482 0.53 0.469419 0.282569 ID=COSM147993;OCCURENCE=1(stomach) 0.37 NA 6.0276144 1049 7 66018941 66018941 G A ncRNA_exonic LOC493754 NA NA NA ncRNA_intronic ENSG00000232559 NA NA NA Score=623;Name=lod=452 NA 7q11.21 NA NA Name=33 NA rs10107 0.66 0.66 0.674 0.623203 0.6392 0.5456 0.6398 0.7595 0.4908 0.64 0.56 0.66 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.688619 NA NA NA NA NA 0.609 NA 6.0274666 1049 17 2966191 2966191 G A exonic OR1D5 NA synonymous SNV OR1D5:NM_014566:exon1:c.C711T:p.T237T exonic ENSG00000262628 NA synonymous SNV ENSG00000262628:ENST00000575751:exon1:c.C711T:p.T237T Score=389;Name=lod=51 NA 17p13.3 NA NA NA NA rs2676566 NA NA 0.233 0.271765 0.333 0.0228 0.2968 0.3843 0.2955 NA NA NA NA 0.3064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.071214 NA NA NA NA NA NA NA 6.0272666 1049 19 8145921 8145921 C T exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon58:c.G7419A:p.P2473P exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon58:c.G7419A:p.P2473P,ENSG00000142449:ENST00000600128:exon59:c.G7419A:p.P2473P,ENSG00000142449:ENST00000601739:exon59:c.G7419A:p.P2473P Score=485;Name=lod=125 NA 19p13.2 NA Name=FOXA1_(C-20),FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs2303168 0.59 0.59 0.623 0.563299 0.5636 0.3581 0.6354 0.8389 0.3507 0.58 0.39 0.62 0.82 0.5378 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588966 NA NA 0.538721 0.795052 NA 0.616 NA 6.0265456 1049 11 117335722 117335722 T C exonic DSCAML1 NA synonymous SNV DSCAML1:NM_020693:exon17:c.A3381G:p.Q1127Q exonic ENSG00000177103 NA synonymous SNV ENSG00000177103:ENST00000527706:exon15:c.A2571G:p.Q857Q,ENSG00000177103:ENST00000321322:exon17:c.A3381G:p.Q1127Q Score=527;Name=lod=184 NA 11q23.3 NA NA NA Score=67;Name=466445_0_+_67 rs538847 0.71 0.71 0.705 0.735823 0.501 0.8958 0.6787 0.8585 0.6871 0.5 0.9 0.65 0.87 0.6144 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140278 NA NA 0.524907 0.791004 NA 0.717 NA 6.0263596 1049 15 63047793 63047793 C T exonic TLN2 NA synonymous SNV TLN2:NM_015059:exon34:c.C4539T:p.I1513I exonic ENSG00000171914 NA synonymous SNV ENSG00000171914:ENST00000494733:exon10:c.C1281T:p.I427I,ENSG00000171914:ENST00000306829:exon34:c.C4539T:p.I1513I,ENSG00000171914:ENST00000561311:exon36:c.C4539T:p.I1513I NA NA 15q22.2 Score=970;Name=V$GATA1_01 NA NA NA rs4775538 0.22 0.22 0.231 0.231629 0.1988 0.3442 0.1297 0.2466 0.2014 0.19 0.3 0.14 0.24 0.2215 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.202968 NA NA 0.220581 0.20177 NA 0.203 NA 6.0257856 1049 4 7044600 7044600 G A exonic CCDC96 NA synonymous SNV CCDC96:NM_153376:exon1:c.C66T:p.A22A exonic ENSG00000173013 NA synonymous SNV ENSG00000173013:ENST00000310085:exon1:c.C66T:p.A22A NA NA 4p16.1 NA Name=Mxi1_(bHLH),Pol2,ZNF263,HDAC2_(SC-6296),Sin3Ak-20,HA-E2F1,ETS1,SREBP1 NA NA rs2359010 0.19 0.19 0.146 0.195288 0.1859 0.3849 0.1427 0.0121 0.2945 0.2 0.34 0.15 0.03 0.2738 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023088 NA NA 0.18133 0.036832 ID=COSM448067;OCCURENCE=1(breast) 0.087 NA 6.0256366 1050 20 3362033 3362033 T C exonic C20orf194 NA synonymous SNV C20orf194:NM_001009984:exon3:c.A276G:p.V92V exonic ENSG00000088854 NA synonymous SNV ENSG00000088854:ENST00000252032:exon3:c.A276G:p.V92V Score=533;Name=lod=195 NA 20p13 NA NA NA NA rs6051818 0.24 0.24 0.259 0.23762 0.2197 0.1657 0.1873 0.3759 0.1789 0.22 0.19 0.15 0.38 0.211 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619991 NA NA 0.211543 0.364532 NA 0.283 NA 6.0244236 1050 5 37506911 37506911 C T intronic WDR70 NA NA NA ncRNA_exonic ENSG00000248216 NA NA NA Score=542;Name=lod=213 NA 5p13.2 NA Name=CTCF NA NA rs13155335 0.29 0.29 0.25 0.278954 0.3091 0.4891 0.2637 0.1044 0.2781 0.3 0.44 0.32 0.09 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057489 NA NA NA NA ID=COSN167440;OCCURENCE=1(large_intestine) 0.275 NA 6.0242333 1050 8 24348241 24348241 A G intronic ADAM7 NA NA NA ncRNA_intronic ENSG00000253535,ENSG00000253643 NA NA NA NA NA 8p21.2 Score=933;Name=V$LHX3_01 NA Name=2 NA rs2242354 0.26 0.26 0.239 0.279952 0.3101 0.1915 0.4323 0.149 0.409 0.31 0.2 0.41 0.15 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096935 NA NA NA NA NA 0.196 NA 6.0232333 1050 22 32589023 32589023 C T exonic RFPL2 NA nonsynonymous SNV RFPL2:NM_006605:exon1:c.G239A:p.C80Y,RFPL2:NM_001159545:exon3:c.G152A:p.C51Y,RFPL2:NM_001159546:exon3:c.G152A:p.C51Y,RFPL2:NM_001098527:exon4:c.G422A:p.C141Y exonic ENSG00000128253 NA nonsynonymous SNV ENSG00000128253:ENST00000248980:exon1:c.G239A:p.C80Y,ENSG00000128253:ENST00000248983:exon3:c.G152A:p.C51Y,ENSG00000128253:ENST00000400236:exon4:c.G152A:p.C51Y,ENSG00000128253:ENST00000400237:exon4:c.G422A:p.C141Y NA NA 22q12.3 NA NA NA NA rs136478 0.35 0.35 0.349 0.367812 0.4642 0.1419 0.2723 0.5227 0.3599 0.46 0.13 0.29 0.48 0.396 0.5 1 T 0.286 B 0.295 B . . 1.000 P 0.69 N 2.35 T -0.976 T 0.000 T 0.061 -2.211 0.005 -1.27 -0.335 -1.130 . -2.211477 NA 1 0.452093 0.497957 NA 0.355 NA 6.0210404 1050 22 43435812 43435812 C T exonic TTLL1 NA synonymous SNV TTLL1:NM_012263:exon11:c.G1242A:p.S414S exonic ENSG00000100271 NA synonymous SNV ENSG00000100271:ENST00000331018:exon10:c.G1155A:p.S385S,ENSG00000100271:ENST00000266254:exon11:c.G1242A:p.S414S NA NA 22q13.2 NA NA Name=4 NA rs1052163 0.45 0.45 0.47 0.485623 0.173 0.8333 0.4438 0.5318 0.4162 0.16 0.81 0.39 0.51 0.2977 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538298 NA NA 0.175465 0.478438 NA 0.333 NA 6.0205016 1050 1 169823718 169823718 T C exonic SCYL3 NA nonsynonymous SNV SCYL3:NM_020423:exon12:c.A1700G:p.Q567R,SCYL3:NM_181093:exon13:c.A1862G:p.Q621R exonic ENSG00000000457 NA nonsynonymous SNV ENSG00000000457:ENST00000367770:exon12:c.A1862G:p.Q621R,ENSG00000000457:ENST00000367771:exon12:c.A1700G:p.Q567R,ENSG00000000457:ENST00000423670:exon12:c.A1700G:p.Q567R,ENSG00000000457:ENST00000367772:exon13:c.A1862G:p.Q621R NA NA 1q24.2 NA NA NA NA rs4656197 0.65 0.65 0.638 0.679712 0.5875 0.6607 0.7032 0.7148 0.7301 0.58 0.66 0.67 0.72 0.6433 0.72 0.52 T 0.589 P 0.211 B 0.889 N 1.000 P 1.5 L 2.5 T -0.996 T 0.046 T 0.082 0.763 8.035 -1.02 -0.151 0.202 17.403 0.762505 NA 0.53 0.583488 0.710849 ID=COSM1336135,COSM146679;OCCURENCE=1(stomach),1(large_intestine) 0.522 NA 6.0190454 1050 17 4463796 4463796 G A exonic GGT6 NA synonymous SNV GGT6:NM_001122890:exon1:c.C21T:p.P7P,GGT6:NM_153338:exon1:c.C21T:p.P7P exonic ENSG00000167741 NA synonymous SNV ENSG00000167741:ENST00000301395:exon1:c.C21T:p.P7P,ENSG00000167741:ENST00000381550:exon1:c.C21T:p.P7P,ENSG00000167741:ENST00000574154:exon1:c.C21T:p.P7P,ENSG00000167741:ENST00000574584:exon1:c.C21T:p.P7P NA NA 17p13.2 NA Name=ERalpha_a NA NA rs7216474 0.14 0.14 0.119 0.147764 0.2286 0.0942 0.111 0.0658 0.2566 0.23 0.09 0.13 0.06 0.1917 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398458 NA NA 0.227558 0.084203 NA 0.116 NA 6.0188086 1050 20 30382315 30382315 A G exonic TPX2 NA synonymous SNV TPX2:NM_012112:exon15:c.A1797G:p.R599R exonic ENSG00000088325 NA synonymous SNV ENSG00000088325:ENST00000300403:exon15:c.A1797G:p.R599R,ENSG00000088325:ENST00000340513:exon16:c.A1905G:p.R635R Score=403;Name=lod=58 NA 20q11.21 NA NA NA NA rs3203770 0.23 0.23 0.225 0.224042 0.2346 NA 0.1599 0.5454 0.0552 0.24 NA 0.17 0.53 0.2027 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982314 NA NA 0.21093 0.464367 NA 0.217 NA 6.0184366 1050 5 148620224 148620224 T G intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA Score=703;Name=lod=962 NA 5q32 NA Name=c-Myc Name=25 NA rs3797315 0.45 0.45 0.412 0.464856 0.4026 0.6399 0.3963 0.3979 0.4877 0.39 0.59 0.38 0.41 0.4464 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.383724 3.383724 NA 0.466047 0.411257 NA 0.471 NA 6.0182863 1050 6 150211123 150211123 A T exonic RAET1E NA nonsynonymous SNV RAET1E:NM_001243325:exon2:c.T136A:p.Y46N,RAET1E:NM_001243327:exon2:c.T244A:p.Y82N,RAET1E:NM_139165:exon2:c.T244A:p.Y82N,RAET1E:NM_001243328:exon3:c.T244A:p.Y82N exonic ENSG00000164520 NA nonsynonymous SNV ENSG00000164520:ENST00000357183:exon2:c.T244A:p.Y82N,ENSG00000164520:ENST00000367363:exon2:c.T136A:p.Y46N,ENSG00000164520:ENST00000529948:exon2:c.T244A:p.Y82N,ENSG00000164520:ENST00000532335:exon3:c.T244A:p.Y82N NA NA 6q25.1 NA NA NA NA rs2151910 0.85 0.85 0.856 0.873403 0.7744 0.9524 0.7277 0.9849 0.8466 0.75 0.93 0.75 0.98 0.7855 0.98 1 T 0.0 B 0.0 B 0.022 N 1.000 P -2.3 N 5.88 T -0.967 T 0.001 T 0.041 -1.091 0.152 2.51 0.249 0.220 4.354 -1.09063 NA 1 0.755698 0.946437 NA 0.899 NA 6.0177354 1050 1 175087729 175087729 T C exonic TNN NA nonsynonymous SNV TNN:NM_022093:exon11:c.T2419C:p.W807R exonic ENSG00000120332 NA nonsynonymous SNV ENSG00000120332:ENST00000239462:exon11:c.T2419C:p.W807R NA NA 1q25.1 NA NA NA NA rs6696455 0.43 0.43 0.462 0.473243 0.4513 0.0704 0.3818 0.91 0.3855 0.43 0.08 0.38 0.85 0.4237 0.85 0.25 T 0.0 B 0.001 B 0.972 N 1.000 P -1.9 N 0.51 T -0.990 T 0.000 T 0.029 -1.838 0.009 0.856 -0.249 -0.030 4.715 -1.837943 NA 0.42 0.440698 0.82433 NA 0.645 NA 6.0176354 1050 4 41258978 41258978 C T UTR5 UCHL1 NM_004181:c.-16C>T NA NA UTR5 ENSG00000154277 ENST00000514924:c.-16C>T,ENST00000503431:c.-16C>T,ENST00000284440:c.-16C>T,ENST00000512419:c.-16C>T,ENST00000505232:c.-16C>T,ENST00000508768:c.-16C>T,ENST00000512788:c.-16C>T NA NA NA NA 4p13 NA Name=TBP,TCF12,p300,BCL3,Pol2-4H8,TAF7_(SQ-8),YY1_(C-20),NANOG_(SC-33759),NRSF,Pol2,Pol2(b),TAF1 Name=112 NA rs9321 0.12 0.12 0.087 0.105631 0.1163 0.1587 0.1153 0.0643 0.089 0.13 0.18 0.12 0.05 0.1104 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003222 NA NA 0.089186 0.076033 NA 0.051 NA 6.0174474 1050 22 50658424 50658424 T C exonic TUBGCP6 NA nonsynonymous SNV TUBGCP6:NM_020461:exon17:c.A4129G:p.T1377A exonic ENSG00000128159 NA nonsynonymous SNV ENSG00000128159:ENST00000425018:exon2:c.A187G:p.T63A,ENSG00000128159:ENST00000248846:exon17:c.A4129G:p.T1377A NA NA 22q13.33 NA NA NA NA rs11703226 0.43 0.43 0.397 0.427117 0.4414 0.3948 0.4481 0.4629 0.3824 0.44 0.38 0.42 0.46 0.4319 0.49 0.77 T 0.005 B 0.016 B 0.001 N 1.000 P 0.11 N 3.14 T -0.921 T 0.000 T 0.041 1.046 9.274 -1.43 0.022 0.876 0.893 1.046404 NA 0.55 0.442674 0.487063 NA 0.355 NA 6.0173594 1050 4 175443261 175443261 G T intronic HPGD NA NA NA UTR5 ENSG00000164120 ENST00000514584:c.-13357C>A NA NA NA NA 4q34.1 NA Name=CTCF Name=35 NA rs45567139 0.03 0.03 0.018 0.0163738 0.0467 NA 0.0331 0.0023 0.0092 0.05 NA 0.04 0.0041 0.0423 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931741 NA NA 0.060581 0.010213 NA NA NA 6.0170857 1050 14 75359670 75359670 G A exonic DLST NA synonymous SNV DLST:NM_001933:exon8:c.G576A:p.Q192Q exonic ENSG00000119689 NA synonymous SNV ENSG00000119689:ENST00000334212:exon5:c.G318A:p.Q106Q,ENSG00000119689:ENST00000554806:exon7:c.G525A:p.Q175Q,ENSG00000119689:ENST00000334220:exon8:c.G576A:p.Q192Q Score=336;Name=lod=31 NA 14q24.3 NA Name=EBF1_(C-8) NA NA rs2230237 0.62 0.62 0.632 0.665935 0.5308 0.4196 0.5749 0.9781 0.7014 0.54 0.47 0.59 0.97 0.5882 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.700962 NA NA 0.530581 0.897413 ID=COSM1371111;OCCURENCE=1(large_intestine) 0.543 NA 6.0170856 1050 4 41258970 41258970 A G UTR5 UCHL1 NM_004181:c.-24A>G NA NA UTR5 ENSG00000154277 ENST00000514924:c.-24A>G,ENST00000503431:c.-24A>G,ENST00000284440:c.-24A>G,ENST00000512419:c.-24A>G,ENST00000505232:c.-24A>G,ENST00000508768:c.-24A>G,ENST00000512788:c.-24A>G NA NA NA NA 4p13 NA Name=TAF7_(SQ-8),YY1_(C-20),Pol2-4H8,NRSF,Pol2,NANOG_(SC-33759),TAF1,Pol2(b),TBP,TCF12,p300,BCL3 Name=112 NA rs11556271 0.12 0.12 0.089 0.107029 0.1163 0.1587 0.1153 0.0696 0.089 0.13 0.18 0.12 0.06 0.1109 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.440757 1.440757 NA 0.08907 0.080572 NA 0.058 NA 6.0170634 1050 20 3090848 3090848 T G exonic UBOX5 NA nonsynonymous SNV UBOX5:NM_001267584:exon5:c.A1525C:p.T509P exonic ENSG00000185019 NA synonymous SNV ENSG00000185019:ENST00000348031:exon4:c.A1368C:p.R456R,ENSG00000185019:ENST00000217173:exon5:c.A1530C:p.R510R Score=535;Name=lod=200 NA 20p13 NA NA NA NA rs708973 0.22 0.22 0.193 0.215655 0.3111 0.119 0.2666 0.1543 0.2638 0.33 0.13 0.26 0.13 0.3172 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.51818 1.51818 NA 0.355116 0.16591 NA 0.348 NA 6.016584 1050 X 322257 322257 G A exonic PPP2R3B NA synonymous SNV PPP2R3B:NM_013239:exon2:c.C393T:p.P131P exonic ENSG00000167393 NA synonymous SNV ENSG00000167393:ENST00000381625:exon2:c.C309T:p.P103P,ENSG00000167393:ENST00000390665:exon2:c.C393T:p.P131P Score=610;Name=lod=401 NA Xp22.33 NA NA NA NA rs17855192 0.26 0.26 0.25596 NA NA NA NA NA NA 0.35 0.22 0.28 0.16 0.2998 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524673 NA NA 0.350694 0.201636 NA 0.254 NA 6.0161726 1050 10 85981889 85981889 G A exonic LRIT2 NA synonymous SNV LRIT2:NM_001017924:exon3:c.C1440T:p.G480G exonic ENSG00000204033 NA synonymous SNV ENSG00000204033:ENST00000372113:exon3:c.C1440T:p.G480G,ENSG00000204033:ENST00000538192:exon4:c.C1470T:p.G490G Score=449;Name=lod=89 NA 10q23.1 NA NA NA NA rs12218853 0.2 0.2 0.162 0.186102 0.2316 0.2907 0.232 0.0514 0.181 0.22 0.25 0.26 0.07 0.1973 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935386 NA NA 0.221628 0.086019 NA 0.123 NA 6.0161386 1050 7 142247347 142247347 A C intergenic LOC730441,MTRNR2L6 dist=275279;dist=126784 NA NA exonic ENSG00000211714 NA nonsynonymous SNV ENSG00000211714:ENST00000390361:exon2:c.T109G:p.Y37D NA NA 7q34 NA Name=ERalpha_a,STAT3 Name=36 NA rs361359 NA NA 0.362 0.209465 0.2863 0.0238 0.1816 0.3245 0.1861 NA NA NA NA 0.5316 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717389 NA 0.97 NA NA NA 0.304 NA 6.0154334 1051 17 38955173 38955173 G A exonic KRT28 NA synonymous SNV KRT28:NM_181535:exon2:c.C529T:p.L177L exonic ENSG00000173908 NA synonymous SNV ENSG00000173908:ENST00000306658:exon2:c.C529T:p.L177L Score=401;Name=lod=57 NA 17q21.2 NA NA NA NA rs7222207 0.14 0.14 0.112 0.131989 0.2306 0.0377 0.1801 0.0711 0.1759 0.24 0.03 0.19 0.07 0.1936 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232828 NA NA 0.228425 0.10168 NA 0.101 NA 6.0140416 1051 5 148206646 148206646 G A exonic ADRB2 NA synonymous SNV ADRB2:NM_000024:exon1:c.G252A:p.L84L exonic ENSG00000169252 NA synonymous SNV ENSG00000169252:ENST00000305988:exon1:c.G252A:p.L84L Score=524;Name=lod=180 NA 5q32 NA NA NA NA rs1042717 0.28 0.28 0.296 0.314696 0.1988 0.3641 0.2997 0.3404 0.3589 0.21 0.38 0.26 0.31 0.2574 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262992 NA NA 0.197907 0.327281 NA 0.196 NA 6.0125596 1051 16 633706 633706 C T UTR3 PIGQ NM_004204:c.*671C>T,NM_148920:c.*72C>T NA NA UTR3 ENSG00000007541 ENST00000321878:c.*671C>T,ENST00000026218:c.*72C>T NA NA NA NA 16p13.3 NA Name=Egr-1,ERalpha_a Name=6 NA rs1045283 0.11 0.11 0.116 0.135184 0.1581 0.0238 0.0648 0.1483 0.2587 0.17 0.03 0.07 0.15 0.1628 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20468 NA NA NA NA NA 0.196 NA 6.0124334 1051 8 120886370 120886370 T A intronic DEPTOR NA NA NA ncRNA_exonic ENSG00000245330 NA NA NA NA NA 8q24.12 NA Name=E2F6,THAP1_(SC-98174),HA-E2F1,ZNF263 Name=103 NA rs7840728 0.3 0.3 0.254 0.366813 0.3211 0.0565 0.2133 0.593 0.5368 0.32 0.04 0.24 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435463 NA NA NA NA NA 0.275 NA 6.0122333 1051 4 47560163 47560163 C A exonic ATP10D NA synonymous SNV ATP10D:NM_020453:exon12:c.C2307A:p.I769I exonic ENSG00000145246 NA synonymous SNV ENSG00000145246:ENST00000273859:exon12:c.C2307A:p.I769I Score=476;Name=lod=115 NA 4p12 NA NA NA NA rs11729411 0.23 0.23 0.217 0.224641 0.2127 0.2986 0.2925 0.1785 0.1748 0.21 0.29 0.25 0.16 0.2181 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.266492 2.266492 NA 0.223837 0.192692 ID=COSM149670;OCCURENCE=1(stomach) 0.246 NA 6.0120296 1051 13 43639845 43639845 A C exonic DNAJC15 NA synonymous SNV DNAJC15:NM_013238:exon2:c.A132C:p.G44G exonic ENSG00000120675 NA synonymous SNV ENSG00000120675:ENST00000379221:exon2:c.A132C:p.G44G Score=493;Name=lod=134 NA 13q14.11 NA NA NA NA rs3783044 0.23 0.23 0.232 0.256589 0.2087 0.2212 0.2795 0.2005 0.4018 0.21 0.21 0.27 0.25 0.2461 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.350971 1.350971 NA 0.200163 0.189968 NA 0.138 NA 6.0117036 1051 9 132377900 132377900 C T exonic C9orf50 NA nonsynonymous SNV C9orf50:NM_199350:exon4:c.G743A:p.R248K exonic ENSG00000179058 NA nonsynonymous SNV ENSG00000179058:ENST00000372478:exon4:c.G743A:p.R248K NA NA 9q34.11 NA NA NA NA rs918165 0.53 0.53 0.545 0.556709 0.4513 0.498 0.5216 0.711 0.5419 0.44 0.5 0.51 0.72 0.4801 0.72 0.92 T 0.0 B 0.0 B 0.504 N 1.000 P -0.345 N 2.45 T -0.973 T 0.000 T 0.039 -1.044 0.201 -0.718 -0.455 -0.826 3.890 -1.044468 NA 1 0.390349 0.668861 NA 0.638 NA 6.0115844 1051 14 78390880 78390880 T C exonic ADCK1 NA synonymous SNV ADCK1:NM_001142545:exon7:c.T735C:p.N245N,ADCK1:NM_020421:exon8:c.T939C:p.N313N exonic ENSG00000063761 NA synonymous SNV ENSG00000063761:ENST00000341211:exon7:c.T735C:p.N245N,ENSG00000063761:ENST00000238561:exon8:c.T939C:p.N313N Score=482;Name=lod=121 NA 14q24.3 NA NA NA NA rs2302944 0.22 0.22 0.191 0.234625 0.2127 0.2798 0.196 0.1626 0.3354 0.21 0.28 0.22 0.17 0.2301 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.40512 1.40512 NA 0.212674 0.175897 NA 0.138 NA 6.0111926 1051 1 89449399 89449399 T C exonic RBMXL1 NA synonymous SNV RBMXL1:NM_019610:exon2:c.A111G:p.V37V,RBMXL1:NM_001162536:exon3:c.A111G:p.V37V exonic ENSG00000213516 NA synonymous SNV ENSG00000213516:ENST00000321792:exon2:c.A111G:p.V37V,ENSG00000213516:ENST00000399794:exon3:c.A111G:p.V37V Score=671;Name=lod=711 NA 1p22.2 NA NA NA NA rs77567101 NA NA 0.251 NA NA NA NA NA NA NA NA NA NA 0.362 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.175194 2.175194 NA 0.293721 0.378348 NA 0.029 NA 6.0109456 1051 8 33246538 33246538 A G exonic FUT10 NA synonymous SNV FUT10:NM_032664:exon4:c.T1155C:p.D385D exonic ENSG00000172728 NA synonymous SNV ENSG00000172728:ENST00000518672:exon3:c.T1071C:p.D357D,ENSG00000172728:ENST00000327671:exon4:c.T1155C:p.D385D,ENSG00000172728:ENST00000524021:exon4:c.T1071C:p.D357D,ENSG00000172728:ENST00000335589:exon5:c.T969C:p.D323D Score=474;Name=lod=113 NA 8p12 NA NA NA NA rs16880849 0.27 0.27 0.245 0.298722 0.1938 0.4692 0.17 0.1808 0.4816 0.21 0.47 0.17 0.18 0.2588 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923591 NA NA 0.203256 0.207898 ID=COSM150481;OCCURENCE=1(stomach) 0.225 NA 6.0108106 1051 6 42571346 42571346 A T exonic UBR2 NA synonymous SNV UBR2:NM_001184801:exon5:c.A552T:p.S184S,UBR2:NM_015255:exon5:c.A552T:p.S184S exonic ENSG00000024048 NA synonymous SNV ENSG00000024048:ENST00000372899:exon5:c.A552T:p.S184S,ENSG00000024048:ENST00000372901:exon5:c.A552T:p.S184S,ENSG00000024048:ENST00000372903:exon5:c.A552T:p.S184S Score=553;Name=lod=235 NA 6p21.1 NA NA NA NA rs16895863 0.18 0.18 0.189 0.200879 0.2366 0.0893 0.183 0.2352 0.2454 0.23 0.08 0.14 0.26 0.2067 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.339987 1.339987 NA 0.212806 0.232864 NA 0.21 NA 6.0105606 1051 10 27434483 27434483 G A exonic YME1L1 NA synonymous SNV YME1L1:NM_001253866:exon3:c.C205T:p.L69L,YME1L1:NM_014263:exon3:c.C205T:p.L69L,YME1L1:NM_139312:exon4:c.C376T:p.L126L exonic ENSG00000136758 NA synonymous SNV ENSG00000136758:ENST00000375972:exon3:c.C205T:p.L69L,ENSG00000136758:ENST00000376016:exon3:c.C205T:p.L69L,ENSG00000136758:ENST00000427324:exon3:c.C205T:p.L69L,ENSG00000136758:ENST00000326799:exon4:c.C376T:p.L126L,ENSG00000136758:ENST00000396296:exon4:c.C181T:p.L61L Score=578;Name=lod=297 NA 10p12.1 NA NA NA NA rs2274634 0.34 0.34 0.324 0.348842 0.2247 0.5506 0.1873 0.3132 0.4315 0.23 0.6 0.19 0.3 0.254 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.878817 NA NA 0.178181 0.310032 NA 0.254 NA 6.0097856 1051 12 40716260 40716260 T C exonic LRRK2 NA synonymous SNV LRRK2:NM_198578:exon37:c.T5457C:p.G1819G exonic ENSG00000188906 NA synonymous SNV ENSG00000188906:ENST00000298910:exon37:c.T5457C:p.G1819G Score=559;Name=lod=250 NA 12q12 NA NA NA NA rs10878371 0.54 0.54 0.51 0.585264 0.5427 0.501 0.6037 0.5862 0.7014 0.55 0.45 0.62 0.54 0.5733 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400037 NA NA 0.541512 0.576714 NA 0.551 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=single;CLNACC=RCV000032483.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 6.0091546 1051 1 66067109 66067109 T C exonic LEPR NA synonymous SNV LEPR:NM_001198687:exon8:c.T1029C:p.S343S,LEPR:NM_001198688:exon8:c.T1029C:p.S343S,LEPR:NM_001198689:exon8:c.T1029C:p.S343S,LEPR:NM_001003679:exon9:c.T1029C:p.S343S,LEPR:NM_001003680:exon9:c.T1029C:p.S343S,LEPR:NM_002303:exon9:c.T1029C:p.S343S exonic ENSG00000116678 NA synonymous SNV ENSG00000116678:ENST00000371058:exon7:c.T1029C:p.S343S,ENSG00000116678:ENST00000344610:exon9:c.T1029C:p.S343S,ENSG00000116678:ENST00000349533:exon9:c.T1029C:p.S343S,ENSG00000116678:ENST00000371059:exon9:c.T1029C:p.S343S,ENSG00000116678:ENST00000371060:exon9:c.T1029C:p.S343S Score=449;Name=lod=89 NA 1p31.3 NA NA NA NA rs1805134 0.19 0.19 0.197 0.253994 0.2227 0.0675 0.1455 0.382 0.3824 0.23 0.06 0.16 0.32 0.2287 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409168 NA NA 0.206512 0.316387 NA 0.355 NA 6.0087546 1051 4 40337944 40337944 C T exonic CHRNA9 NA synonymous SNV CHRNA9:NM_017581:exon2:c.C165T:p.V55V exonic ENSG00000174343 NA synonymous SNV ENSG00000174343:ENST00000310169:exon2:c.C165T:p.V55V NA NA 4p14 NA NA Name=6 NA rs56159866 0.13 0.13 0.108 0.114816 0.2207 0.0496 0.1816 0.0113 0.1656 0.22 0.05 0.21 0.01 0.1861 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872235 NA NA 0.251395 0.049932 NA 0.109 NA 6.0084716 1051 19 46274553 46274553 G A intronic DMPK NA NA NA exonic ENSG00000104936 NA nonsynonymous SNV ENSG00000104936:ENST00000597660:exon4:c.C430T:p.L144F NA NA 19q13.32 NA Name=Pol2 NA NA rs112693590 0.03 0.03 0.018 0.0177716 0.0646 NA 0.0288 0.0015 0.002 0.07 NA 0.05 0.002 0.042 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121116 NA NA 0.051854 0.006503 NA 0.014 NA 6.0082127 1051 14 24617238 24617238 C T exonic RNF31 NA synonymous SNV RNF31:NM_017999:exon2:c.C246T:p.Y82Y exonic ENSG00000092098 NA synonymous SNV ENSG00000092098:ENST00000558907:exon1:c.C54T:p.Y18Y,ENSG00000092098:ENST00000324103:exon2:c.C246T:p.Y82Y,ENSG00000092098:ENST00000557991:exon3:c.C246T:p.Y82Y NA NA 14q12 NA NA Name=7 NA rs2273913 0.34 0.34 0.356 0.34345 0.2306 0.5546 0.2003 0.3782 0.2965 0.22 0.55 0.2 0.4 0.2483 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984697 NA NA 0.179799 0.315789 NA 0.268 NA 6.0079676 1051 18 28722103 28722103 T C exonic DSC1 NA synonymous SNV DSC1:NM_004948:exon9:c.A1119G:p.L373L,DSC1:NM_024421:exon9:c.A1119G:p.L373L exonic ENSG00000134765 NA synonymous SNV ENSG00000134765:ENST00000257197:exon9:c.A1119G:p.L373L,ENSG00000134765:ENST00000257198:exon9:c.A1119G:p.L373L Score=325;Name=lod=28 NA 18q12.1 NA NA NA NA rs2577074 0.37 0.37 0.361 0.344649 0.2127 0.5655 0.3746 0.4085 0.1452 0.2 0.57 0.35 0.4 0.2591 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824265 NA NA 0.187326 0.401952 NA 0.254 NA 6.0075406 1051 17 36894839 36894839 G A exonic PCGF2 NA synonymous SNV PCGF2:NM_007144:exon8:c.C435T:p.D145D exonic ENSG00000056661 NA stopgain ENSG00000056661:ENST00000578109:exon6:c.C277T:p.R93X,ENSG00000056661:ENST00000585100:exon7:c.C439T:p.R147X,ENSG00000056661:ENST00000579882:exon8:c.C439T:p.R147X Score=414;Name=lod=64 NA 17q12 NA NA NA NA rs1138349 0.41 0.41 0.408 0.433706 0.4284 0.2758 0.4179 0.5121 0.5072 0.43 0.3 0.44 0.51 0.4423 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.325897 3.325897 NA 0.455116 0.518838 NA 0.457 NA 6.0075173 1051 2 132768019 132768019 C G intergenic C2orf27B,ANKRD30BL dist=208785;dist=137145 NA NA intergenic ENSG00000236485,ENSG00000226886 dist=16285;dist=27341 NA NA Score=557;Name=lod=244 NA 2q21.2 NA Name=GATA-2 Name=15 NA rs6734759 NA NA 0.378 0.397364 0.326 0.3115 0.5403 0.4932 0.3282 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942352 NA NA NA NA NA 0.014 NA 6.0073334 1051 19 50383636 50383636 T C exonic TBC1D17 NA nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.T197C:p.L66P,TBC1D17:NM_024682:exon4:c.T296C:p.L99P exonic ENSG00000104946 NA nonsynonymous SNV ENSG00000104946:ENST00000535102:exon3:c.T197C:p.L66P,ENSG00000104946:ENST00000221543:exon4:c.T296C:p.L99P NA NA 19q13.33 NA NA NA NA rs3745486 0.47 0.47 0.448 0.543131 0.4245 0.4246 0.4899 0.6778 0.6431 0.42 0.41 0.49 0.62 0.4827 0.64 0.41 T 0.0 B 0.0 B 0.415 N 1.000 P -0.69 N 1.6 T -0.971 T 0.000 T 0.049 -0.634 1.195 1.92 0.215 0.842 1.140 -0.634278 NA 0.27 0.41907 0.638221 NA 0.355 NA 6.0070634 1051 1 229683264 229683264 G A exonic ABCB10 NA synonymous SNV ABCB10:NM_012089:exon3:c.C903T:p.S301S exonic ENSG00000135776 NA synonymous SNV ENSG00000135776:ENST00000344517:exon3:c.C903T:p.S301S NA NA 1q42.13 Score=797;Name=V$ARP1_01 NA NA NA rs3738187 0.28 0.28 0.298 0.302516 0.2097 0.1627 0.3285 0.5696 0.1626 0.21 0.14 0.28 0.55 0.2329 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623835 NA NA 0.217093 0.526101 NA 0.268 NA 6.0069736 1051 16 71682796 71682796 T C exonic PHLPP2 NA synonymous SNV PHLPP2:NM_015020:exon18:c.A3969G:p.L1323L exonic ENSG00000040199 NA synonymous SNV ENSG00000040199:ENST00000393524:exon17:c.A3768G:p.L1256L,ENSG00000040199:ENST00000356272:exon18:c.A3969G:p.L1323L,ENSG00000040199:ENST00000567016:exon19:c.A4074G:p.L1358L,ENSG00000040199:ENST00000568954:exon19:c.A3969G:p.L1323L Score=300;Name=lod=22 NA 16q22.2 NA NA NA NA rs61733125 0.19 0.19 0.175 0.239417 0.2197 0.1895 0.2003 0.118 0.5031 0.2 0.2 0.23 0.12 0.2379 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.977052 NA NA 0.202674 0.131256 NA 0.167 NA 6.0063926 1051 9 128246786 128246786 G A exonic MAPKAP1 NA synonymous SNV MAPKAP1:NM_001006621:exon7:c.C567T:p.H189H,MAPKAP1:NM_001006620:exon8:c.C567T:p.H189H,MAPKAP1:NM_024117:exon8:c.C1035T:p.H345H,MAPKAP1:NM_001006617:exon9:c.C1143T:p.H381H exonic ENSG00000119487 NA synonymous SNV ENSG00000119487:ENST00000373497:exon4:c.C282T:p.H94H,ENSG00000119487:ENST00000497932:exon5:c.C459T:p.H153H,ENSG00000119487:ENST00000420643:exon6:c.C459T:p.H153H,ENSG00000119487:ENST00000394063:exon7:c.C567T:p.H189H,ENSG00000119487:ENST00000350766:exon8:c.C1035T:p.H345H,ENSG00000119487:ENST00000373498:exon8:c.C1143T:p.H381H,ENSG00000119487:ENST00000373503:exon8:c.C567T:p.H189H,ENSG00000119487:ENST00000265960:exon9:c.C1143T:p.H381H Score=627;Name=lod=470 NA 9q33.3 NA NA NA NA rs2070113 0.17 0.17 0.186 0.163738 0.2256 0.2421 0.1643 0.0272 0.2035 0.21 0.26 0.16 0.03 0.1993 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227875 NA NA 0.236047 0.065365 NA 0.181 NA 6.0057196 1051 17 76870106 76870106 C G intronic TIMP2 NA NA NA UTR5 ENSG00000035862 ENST00000586057:c.-3018G>C,ENST00000592761:c.-3018G>C NA NA NA NA 17q25.3 NA Name=GATA-2,HA-E2F1 Name=6 NA rs55955357 0.17 0.17 0.163 0.182907 0.161 0.2679 0.1412 0.1067 0.2505 0.16 0.24 0.16 0.13 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37313 NA NA NA NA NA 0.152 NA 6.0056667 1051 7 142247348 142247348 T C intergenic LOC730441,MTRNR2L6 dist=275280;dist=126783 NA NA exonic ENSG00000211714 NA synonymous SNV ENSG00000211714:ENST00000390361:exon2:c.A108G:p.K36K NA NA 7q34 NA Name=STAT3,ERalpha_a Name=36 NA rs371674308 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4946 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531843 NA NA NA NA NA NA NA 6.0054 1051 15 38614525 38614525 G A exonic SPRED1 NA synonymous SNV SPRED1:NM_152594:exon3:c.G291A:p.K97K exonic ENSG00000166068 NA synonymous SNV ENSG00000166068:ENST00000299084:exon3:c.G291A:p.K97K,ENSG00000166068:ENST00000561317:exon4:c.G228A:p.K76K Score=714;Name=lod=1066 NA 15q14 Score=838;Name=V$CDP_02 NA NA NA rs7182445 0.82 0.82 0.802 0.80012 0.9006 0.8026 0.8401 0.652 0.8661 0.92 0.8 0.82 0.71 0.8637 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015576 NA NA 0.897021 0.686818 NA 0.826 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Legius_syndrome|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000034273.2|RCV000041241.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK47312:C1969623:611431:ORPHA137605|. 6.0053456 1052 1 11983206 11983206 A G exonic KIAA2013 NA synonymous SNV KIAA2013:NM_138346:exon2:c.T1374C:p.F458F exonic ENSG00000116685 NA synonymous SNV ENSG00000116685:ENST00000376572:exon2:c.T1374C:p.F458F,ENSG00000116685:ENST00000376576:exon2:c.T1374C:p.F458F Score=581;Name=lod=306 NA 1p36.22 Score=892;Name=V$E2F_03 NA NA NA rs3795408 0.57 0.57 0.558 0.675319 0.5537 0.6796 0.5317 0.8321 0.6861 0.5 0.58 0.47 0.77 0.5929 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395967 NA NA 0.515067 0.746795 NA 0.529 NA 6.0049996 1052 7 6066461 6066461 T C exonic EIF2AK1 NA synonymous SNV EIF2AK1:NM_001134335:exon14:c.A1659G:p.P553P,EIF2AK1:NM_014413:exon14:c.A1662G:p.P554P exonic ENSG00000086232 NA synonymous SNV ENSG00000086232:ENST00000536084:exon13:c.A1290G:p.P430P,ENSG00000086232:ENST00000199389:exon14:c.A1662G:p.P554P NA NA 7p22.1 NA Name=CTCF NA NA rs2639 0.31 0.31 0.3 0.33746 0.2048 0.4425 0.219 0.4448 0.3047 0.2 0.44 0.23 0.41 0.2606 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946816 NA NA 0.196279 0.438493 ID=COSM150234;OCCURENCE=1(stomach) 0.377 NA 6.0049876 1052 4 164085425 164085425 T C exonic NAF1 NA nonsynonymous SNV NAF1:NM_001128931:exon2:c.A484G:p.I162V,NAF1:NM_138386:exon2:c.A484G:p.I162V exonic ENSG00000145414 NA nonsynonymous SNV ENSG00000145414:ENST00000274054:exon2:c.A484G:p.I162V,ENSG00000145414:ENST00000422287:exon2:c.A484G:p.I162V NA NA 4q32.2 NA NA NA NA rs4691896 0.79 0.79 0.772 0.791534 0.7614 0.7867 0.7767 0.789 0.8415 0.77 0.8 0.8 0.81 0.7961 0.81 0.3 T 0.0 B 0.0 B 0.292 N 0.999 P -0.805 N 1.63 T -0.983 T 0.000 T 0.004 -1.698 0.011 -0.137 -0.453 -1.147 1.487 -1.697623 NA 0.87 0.770993 0.776214 NA 0.79 NA 6.0048404 1052 5 176734855 176734855 G C exonic MXD3 NA synonymous SNV MXD3:NM_001142935:exon5:c.C432G:p.A144A,MXD3:NM_031300:exon5:c.C432G:p.A144A exonic ENSG00000213347 NA synonymous SNV ENSG00000213347:ENST00000423571:exon5:c.C432G:p.A144A,ENSG00000213347:ENST00000427908:exon5:c.C432G:p.A144A,ENSG00000213347:ENST00000439742:exon5:c.C432G:p.A144A,ENSG00000213347:ENST00000513169:exon5:c.C183G:p.A61A,ENSG00000213347:ENST00000513063:exon6:c.C432G:p.A144A NA NA 5q35.3 NA NA Name=3 NA rs4568379 0.2 0.2 0.209 0.207468 0.2276 0.0258 0.1686 0.3555 0.2014 0.22 0.03 0.21 0.35 0.2262 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.277704 NA NA 0.208537 0.285274 NA 0.275 NA 6.0043296 1052 9 88959938 88959938 C T exonic ZCCHC6 NA synonymous SNV ZCCHC6:NM_001185059:exon5:c.G951A:p.L317L,ZCCHC6:NM_001185074:exon5:c.G951A:p.L317L,ZCCHC6:NM_024617:exon5:c.G951A:p.L317L exonic ENSG00000083223 NA synonymous SNV ENSG00000083223:ENST00000375947:exon4:c.G450A:p.L150L,ENSG00000083223:ENST00000375960:exon5:c.G951A:p.L317L,ENSG00000083223:ENST00000375961:exon5:c.G951A:p.L317L,ENSG00000083223:ENST00000375963:exon5:c.G951A:p.L317L Score=541;Name=lod=211 NA 9q21.33 NA NA Name=6 NA rs791323 0.6 0.6 0.626 0.619409 0.5447 0.5308 0.5288 0.8253 0.5736 0.56 0.57 0.47 0.78 0.5755 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923169 NA NA 0.543023 0.782342 ID=COSM1463436;OCCURENCE=1(large_intestine) 0.71 NA 6.0034436 1052 11 48387490 48387490 G A intergenic OR4C45,OR4A47 dist=13491;dist=122855 NA NA exonic ENSG00000176540 NA synonymous SNV ENSG00000176540:ENST00000319813:exon1:c.C528T:p.H176H NA NA 11p11.2 Score=883;Name=V$CEBPB_01 Name=CTCF NA NA rs77144540 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4966 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.64839 NA NA NA NA NA 0.043 NA 6.0034 1052 1 9030964 9030964 C T exonic CA6 NA synonymous SNV CA6:NM_001270502:exon5:c.C384T:p.N128N,CA6:NM_001270501:exon6:c.C588T:p.N196N,CA6:NM_001215:exon7:c.C768T:p.N256N,CA6:NM_001270500:exon7:c.C768T:p.N256N exonic ENSG00000131686 NA synonymous SNV ENSG00000131686:ENST00000377442:exon6:c.C588T:p.N196N,ENSG00000131686:ENST00000377436:exon7:c.C768T:p.N256N,ENSG00000131686:ENST00000377443:exon7:c.C768T:p.N256N NA NA 1p36.23 NA NA Name=4 NA rs3737665 0.27 0.27 0.266 0.288538 0.2097 0.5357 0.2983 0.1165 0.3405 0.2 0.52 0.27 0.1 0.249 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150672 NA NA 0.205465 0.162279 NA 0.232 NA 6.0025016 1052 10 99376092 99376092 T C exonic MORN4 NA synonymous SNV MORN4:NM_001098831:exon5:c.A369G:p.R123R,MORN4:NM_178832:exon5:c.A369G:p.R123R exonic ENSG00000171160 NA synonymous SNV ENSG00000171160:ENST00000335628:exon4:c.A543G:p.R181R,ENSG00000171160:ENST00000307450:exon5:c.A369G:p.R123R Score=512;Name=lod=160 NA 10q24.2 NA NA NA NA rs3814555 0.3 0.3 0.283 0.298922 0.1978 0.2817 0.2507 0.4864 0.2014 0.19 0.28 0.25 0.52 0.2481 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422998 1.422998 NA 0.219302 0.435996 ID=COSM147019,COSM147020;OCCURENCE=1(stomach) 0.326 NA 6.0014646 1052 7 22862467 22862467 G A UTR5 TOMM7 NM_019059:c.-69C>T NA NA UTR5 ENSG00000196683 ENST00000358435:c.-69C>T NA NA NA NA 7p15.3 NA Name=YY1,CTCF_(SC-5916),Pol2-4H8,KAP1,ZNF263,HEY1,NFKB,AP-2gamma,STAT2,c-Myc,ZBTB7A_(SC-34508),CTCF_(C-20),SIX5,SRF,GTF2B,Nrf1,TBP,TAF1,GATA-1,E2F4,SMC3_(ab9263),Pol2(phosphoS2),TCF4,Mxi1_(bHLH),ATF3,NRSF,Pol2,E2F6,TR4,USF1_(SC-8983),TAF7_(SQ-8),YY1_(C-20),ELF1_(SC-631),Rad21,Max,CTCF,CEBPB,GTF2F1_(RAP-74) Name=148 NA rs2270105 0.5 0.5 0.479 0.523762 0.332 0.6528 0.3559 0.711 0.454 0.35 0.66 0.34 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146353 NA NA NA NA NA 0.457 NA 6.0013334 1052 19 45395714 45395714 T C exonic TOMM40 NA synonymous SNV TOMM40:NM_001128917:exon2:c.T339C:p.F113F,TOMM40:NM_001128916:exon3:c.T339C:p.F113F,TOMM40:NM_006114:exon3:c.T339C:p.F113F exonic ENSG00000130204 NA synonymous SNV ENSG00000130204:ENST00000426677:exon2:c.T339C:p.F113F,ENSG00000130204:ENST00000252487:exon3:c.T339C:p.F113F,ENSG00000130204:ENST00000405636:exon3:c.T339C:p.F113F,ENSG00000130204:ENST00000589649:exon3:c.T339C:p.F113F,ENSG00000130204:ENST00000592434:exon3:c.T339C:p.F113F Score=589;Name=lod=329 NA 19q13.32 NA NA NA NA rs157581 0.29 0.29 0.279 0.30631 0.2078 0.246 0.2507 0.5023 0.2444 0.2 0.24 0.27 0.5 0.2483 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.522899 1.522899 NA 0.209651 0.46709 NA 0.341 NA 6.0009156 1052 1 15904318 15904318 C T exonic AGMAT NA synonymous SNV AGMAT:NM_024758:exon5:c.G762A:p.S254S exonic ENSG00000116771 NA synonymous SNV ENSG00000116771:ENST00000375826:exon5:c.G762A:p.S254S NA NA 1p36.21 NA NA Name=15 NA rs11544523 0.24 0.24 0.246 0.23742 0.2177 0.0565 0.1873 0.4493 0.1933 0.22 0.06 0.24 0.46 0.2248 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117387 NA NA 0.223488 0.429414 NA 0.203 NA 6.0006786 1052 4 121958697 121958697 G A exonic NDNF NA synonymous SNV NDNF:NM_024574:exon4:c.C429T:p.S143S exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon4:c.C429T:p.S143S,ENSG00000173376:ENST00000515757:exon4:c.C429T:p.S143S Score=376;Name=lod=45 NA 4q27 Score=965;Name=V$GATA1_01 NA NA NA rs3733560 0.44 0.44 0.403 0.399161 0.5656 0.5962 0.4438 0.0756 0.4305 0.56 0.57 0.47 0.09 0.5152 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034018 NA NA 0.585237 0.156089 NA 0.449 NA 6.0006296 1052 7 100608868 100608868 A G intergenic ACHE,MUC12 dist=115327;dist=4036 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000422757:exon6:c.A717G:p.L239L,ENSG00000169894:ENST00000319509:exon7:c.A2247G:p.L749L NA NA 7q22.1 NA Name=c-Myc,ZBTB7A_(SC-34508),USF-1,Sin3Ak-20,HDAC2_(SC-6296),Rad21,CTCF,GABP,HMGN3,ETS1,E2F6_(H-50),E2F6 Name=5 NA rs67377634 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4994 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164209 NA NA NA NA NA 0.007 NA 6.0006 1052 11 3913663 3913663 G T intronic STIM1 NA NA NA ncRNA_exonic ENSG00000230593 NA NA NA Score=711;Name=lod=1029 NA 11p15.4 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) NA NA rs10835252 0.26 0.26 0.242 0.286342 0.333 0.3442 0.2882 0.1316 0.3865 0.33 0.34 0.22 0.08 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634367 NA NA NA NA NA 0.225 NA 6.0003333 1052 11 3914033 3914033 C A intronic STIM1 NA NA NA ncRNA_exonic ENSG00000230593 NA NA NA Score=711;Name=lod=1029 NA 11p15.4 NA NA Name=3 NA rs10767685 0.26 0.26 0.233 0.289337 0.333 0.3591 0.2882 0.1316 0.3865 0.33 0.36 0.22 0.08 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.100745 NA NA NA NA NA 0.21 NA 6.0003333 1052 7 100553002 100553002 A G intergenic ACHE,MUC12 dist=59461;dist=59902 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000414964:exon1:c.A117G:p.K39K,ENSG00000169894:ENST00000422757:exon1:c.A117G:p.K39K,ENSG00000169894:ENST00000319509:exon2:c.A1647G:p.K549K Score=265;Name=lod=16 NA 7q22.1 NA Name=CTCF NA NA rs68094465 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250772 NA NA NA NA NA 0.5 NA 6.0001 1052 1 13183511 13183511 T C exonic LOC440563 NA nonsynonymous SNV LOC440563:NM_001136561:exon2:c.A362G:p.D121G ncRNA_exonic ENSG00000179412 NA NA NA Score=723;Name=lod=1157 NA 1p36.21 NA NA NA NA rs1737105 NA NA 0.466 NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55941 NA NA NA NA NA 0.029 NA 6 1052 1 78045089 78045089 C T intronic ZZZ3 NA NA NA intronic ENSG00000036549 NA NA NA NA NA 1p31.1 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227184 NA NA NA NA NA NA NA 6 1052 1 119157316 119157316 C A intergenic SPAG17,TBX15 dist=429468;dist=268350 NA NA ncRNA_exonic ENSG00000226126 NA NA NA Score=838;Name=lod=3396 NA 1p12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.893082 NA NA NA NA NA NA NA 6 1052 1 144918034 144918034 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=CTCF Name=143 NA rs2655804 NA NA 0.201 NA NA NA NA NA NA NA NA NA NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242708 NA NA NA NA NA 0.196 NA 6 1052 1 144923535 144923535 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=c-Fos Name=69 NA rs1778127 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.835184 NA NA NA NA NA 0.5 NA 6 1052 2 8822912 8822912 A C intronic ID2 NA NA NA intronic ENSG00000115738 NA NA NA NA NA 2p25.1 NA Name=Pol2 Name=131 NA rs3845751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.658905 NA NA NA NA NA 0.703 NA 6 1052 2 30862949 30862949 G A intronic LCLAT1 NA NA NA intronic ENSG00000172954 NA NA NA NA NA 2p23.1 NA NA Name=4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950535 NA NA NA NA NA NA NA 6 1052 2 87449510 87449510 T C intergenic LOC285074,LINC00152 dist=145974;dist=305464 NA NA ncRNA_exonic ENSG00000233671 NA NA NA NA NA 2p11.2 NA Name=CEBPB Name=56 NA rs62145256 0.55 0.55 0.492 NA NA NA NA NA NA 0.58 0.44 0.7 0.51 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108545 NA NA NA NA NA 0.123 NA 6 1052 2 91777983 91777983 T C intergenic NONE,LOC654342 dist=NONE;dist=46726 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=SUZ12 Name=62 NA rs2558001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176325 NA NA NA NA NA 0.42 NA 6 1052 2 91777987 91777987 T C intergenic NONE,LOC654342 dist=NONE;dist=46722 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=SUZ12 Name=62 NA rs2558000 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011036 NA NA NA NA NA 0.449 NA 6 1052 2 91791058 91791058 G A intergenic NONE,LOC654342 dist=NONE;dist=33651 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=ZZZ3 Name=5 NA rs2557974 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205743 NA NA NA NA NA 0.5 NA 6 1052 2 91791094 91791094 G A intergenic NONE,LOC654342 dist=NONE;dist=33615 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=ZZZ3 Name=5 NA rs2557973 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570126 NA NA NA NA NA 0.5 NA 6 1052 2 91791139 91791139 G A intergenic NONE,LOC654342 dist=NONE;dist=33570 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=ZZZ3 Name=5 NA rs2647781 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375898 NA NA NA NA NA 0.5 NA 6 1052 2 91800211 91800211 A T intergenic NONE,LOC654342 dist=NONE;dist=24498 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=567;Name=lod=269 NA 2p11.1 NA Name=BRF2,SUZ12 NA NA rs2531389 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.835251 1.835251 NA NA NA NA 0.5 NA 6 1052 2 91800960 91800960 G C intergenic NONE,LOC654342 dist=NONE;dist=23749 NA NA ncRNA_exonic ENSG00000233991 NA NA NA Score=265;Name=lod=16 NA 2p11.1 NA NA Name=8 NA rs1640044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4383 NA NA NA NA NA 0.5 NA 6 1052 2 91924782 91924782 C A intergenic LOC654342,GGT8P dist=76807;dist=38586 NA NA ncRNA_exonic ENSG00000223703 NA NA NA Score=563;Name=lod=260 NA 2p11.1 Score=782;Name=V$PPARA_01 NA NA NA rs4004379 NA NA 0.131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851031 NA NA NA NA NA NA NA 6 1052 2 130751697 130751697 T C intergenic RAB6C,LOC440905 dist=11386;dist=31875 NA NA ncRNA_intronic ENSG00000180178 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592685 NA NA NA NA NA NA NA 6 1052 2 133020382 133020382 C T intergenic ANKRD30BL,GPR39 dist=4840;dist=153765 NA NA ncRNA_exonic ENSG00000233786 NA NA NA Score=762;Name=lod=1662 NA 2q21.2 NA NA Name=139 NA rs113897499 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444157 NA NA NA NA NA 0.014 NA 6 1052 2 133020404 133020404 T G intergenic ANKRD30BL,GPR39 dist=4862;dist=153743 NA NA ncRNA_exonic ENSG00000233786 NA NA NA Score=762;Name=lod=1662 NA 2q21.2 NA NA Name=139 NA rs75576404 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692925 NA NA NA NA NA 0.022 NA 6 1052 2 133074718 133074718 A C intergenic ANKRD30BL,GPR39 dist=59176;dist=99429 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=STAT3 Name=7 NA rs4953961 NA NA 0.44 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064346 NA NA NA NA NA 0.5 NA 6 1052 2 133074851 133074851 A T intergenic ANKRD30BL,GPR39 dist=59309;dist=99296 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=STAT3 Name=7 NA rs7355688 NA NA 0.366 NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154519 NA NA NA NA NA 0.486 NA 6 1052 2 133074876 133074876 A G intergenic ANKRD30BL,GPR39 dist=59334;dist=99271 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=STAT3 Name=7 NA rs7355689 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385756 NA NA NA NA NA 0.471 NA 6 1052 2 133076048 133076048 A G intergenic ANKRD30BL,GPR39 dist=60506;dist=98099 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=412;Name=lod=63 NA 2q21.2 NA Name=SETDB1 NA NA rs2598808 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243114 NA NA NA NA NA 0.5 NA 6 1052 2 133076206 133076206 C T intergenic ANKRD30BL,GPR39 dist=60664;dist=97941 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=SETDB1 Name=9 NA rs2598807 NA NA 0.332 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109143 NA NA NA NA NA 0.5 NA 6 1052 3 63082076 63082076 C T intergenic CADPS,LINC00698 dist=221012;dist=6288 NA NA ncRNA_exonic ENSG00000242841 NA NA NA Score=510;Name=lod=157 NA 3p14.2 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147366 NA NA NA NA NA NA NA 6 1052 3 192125737 192125737 G A intronic FGF12 NA NA NA intronic ENSG00000114279 NA NA NA NA NA 3q28 NA NA Name=38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385006 NA NA NA NA NA NA NA 6 1052 4 64956 64956 G A intronic ZNF595,ZNF718 NA NA NA intronic ENSG00000197701 NA NA NA NA NA 4p16.3 NA Name=c-Myc Name=34 NA rs3904490 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432317 NA NA NA NA NA 0.514 NA 6 1052 4 70257215 70257215 A C intergenic UGT2B28,UGT2B4 dist=96447;dist=88668 NA NA ncRNA_exonic ENSG00000215110 NA NA NA Score=387;Name=lod=50 NA 4q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69593 NA 0.03 NA NA NA NA NA 6 1052 4 75858646 75858646 G C intronic PARM1 NA NA NA intronic ENSG00000169116 NA NA NA NA NA 4q13.3 NA Name=Pol2,Nrf1,c-Myc,SUZ12,ELF1_(SC-631) Name=15 NA rs189562495 0.0032 0.0032 NA 0.00359425 NA NA NA 0.0136 NA NA NA NA 0.01 NA 0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868171 NA NA 0 0.018064 NA NA NA 6 1052 5 10664799 10664799 G A intergenic ANKRD33B,DAP dist=6871;dist=14543 NA NA ncRNA_exonic ENSG00000251548 NA NA NA Score=726;Name=lod=1191 NA 5p15.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823652 NA NA NA NA NA NA NA 6 1052 5 16694309 16694309 T C intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA Name=GATA-2 Name=31 NA rs25910 0.58 0.58 0.571 NA NA NA NA NA NA 0.5 0.53 0.6 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09179 NA NA NA NA NA 0.587 NA 6 1052 5 29882284 29882284 G A intergenic LSP1P3,CDH6 dist=954864;dist=1311478 NA NA ncRNA_exonic ENSG00000233787 NA NA NA Score=304;Name=lod=23 NA 5p13.3 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs2288448 0.49 0.49 0.523 NA NA NA NA NA NA 0.65 0.19 0.43 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144833 NA NA NA NA NA 0.435 NA 6 1052 5 137281763 137281763 G A intronic FAM13B NA NA NA intronic ENSG00000031003 NA NA NA NA NA 5q31.2 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831845 NA NA NA NA NA NA NA 6 1052 5 176815880 176815880 G A intronic SLC34A1 NA NA NA intronic ENSG00000131183 NA NA NA NA NA 5q35.3 NA Name=CTCF Name=15 NA rs56297224 0.21 0.21 0.205 NA NA NA NA NA NA 0.28 0.24 0.26 0.04 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837083 NA NA NA NA NA 0.225 NA 6 1052 5 180541263 180541263 T C intergenic BTNL9,OR2V1 dist=52740;dist=10094 NA NA ncRNA_exonic ENSG00000248560 NA NA NA Score=546;Name=lod=220 NA 5q35.3 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773738 NA NA NA NA NA NA NA 6 1052 6 57467323 57467323 G C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA Score=358;Name=lod=38 NA 6p11.2 NA NA Name=40 NA rs4424069 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.965304 1.965304 NA NA NA NA 0.464 NA 6 1052 6 108326252 108326252 C A intergenic SEC63,OSTM1 dist=46770;dist=36361 NA NA ncRNA_exonic ENSG00000225093 NA NA NA Score=669;Name=lod=697 NA 6q21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426727 NA NA NA NA NA NA NA 6 1052 6 127677841 127677841 G C intergenic ECHDC1,SOGA3 dist=13087;dist=81710 NA NA ncRNA_exonic ENSG00000213131 NA NA NA Score=686;Name=lod=815 NA 6q22.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.754436 1.754436 NA NA NA NA NA NA 6 1052 7 32109850 32109850 T C intronic PDE1C NA NA NA intronic ENSG00000154678 NA NA NA NA NA 7p14.3 NA Name=SUZ12 Name=25 NA rs183858827 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606046 NA NA NA NA NA NA NA 6 1052 7 64800525 64800525 C T intergenic CCT6P3,ZNF92 dist=265434;dist=38243 NA NA ncRNA_exonic ENSG00000231556 NA NA NA Score=558;Name=lod=247 NA 7q11.21 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375156 NA NA NA NA NA NA NA 6 1052 7 100609966 100609966 T C intergenic ACHE,MUC12 dist=116425;dist=2938 NA NA ncRNA_intronic ENSG00000225946 NA NA NA NA NA 7q22.1 NA Name=CTCF,PU.1 Name=16 NA rs10274451 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297831 NA NA NA NA NA 0.522 NA 6 1052 7 100609987 100609987 T C intergenic ACHE,MUC12 dist=116446;dist=2917 NA NA ncRNA_intronic ENSG00000225946 NA NA NA NA NA 7q22.1 NA Name=CTCF Name=16 NA rs10274460 NA NA 0.574 NA NA NA NA NA NA NA NA NA NA NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097184 NA NA NA NA NA 0.543 NA 6 1052 7 156974417 156974417 G T intronic UBE3C NA NA NA intronic ENSG00000009335 NA NA NA NA NA 7q36.3 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233185 NA NA NA NA NA NA NA 6 1052 8 48076612 48076612 A G intergenic LINC00293,LOC100287846 dist=309205;dist=24318 NA NA ncRNA_exonic ENSG00000248531 NA NA NA Score=415;Name=lod=65 NA 8q11.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743215 NA NA NA NA NA NA NA 6 1052 9 67334949 67334949 T C intergenic AQP7P1,FAM27B dist=45457;dist=457980 NA NA ncRNA_exonic ENSG00000237238 NA NA NA Score=537;Name=lod=203 NA 9q13 NA NA Name=10 NA rs9330415 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305241 NA NA NA NA NA NA NA 6 1052 10 29813396 29813396 C G intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA Score=265;Name=lod=16 NA 10p11.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754418 NA NA NA NA NA NA NA 6 1052 10 30915930 30915930 T G intronic LYZL2 NA NA NA intronic ENSG00000151033 NA NA NA NA NA 10p11.23 NA Name=CTCF Name=4 NA rs2370118 0.11 0.11 0.094 NA NA NA NA NA NA 0.15 NA 0.15 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326849 NA NA NA NA NA NA NA 6 1052 10 30915944 30915944 C T intronic LYZL2 NA NA NA intronic ENSG00000151033 NA NA NA NA NA 10p11.23 NA Name=CTCF Name=4 NA rs7079130 0.11 0.11 0.083 NA NA NA NA NA NA 0.15 NA 0.14 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.574798 2.574798 NA NA NA NA NA NA 6 1052 10 52487681 52487681 G A intergenic SGMS1,ASAH2B dist=103944;dist=12007 NA NA ncRNA_exonic ENSG00000213667 NA NA NA Score=775;Name=lod=1882 NA 10q11.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124768 NA NA NA NA NA NA NA 6 1052 10 112645152 112645152 A G intronic PDCD4 NA NA NA intronic ENSG00000150593 NA NA NA Score=251;Name=lod=14 NA 10q25.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.177701 3.177701 NA NA NA NA NA NA 6 1052 11 57344469 57344469 A G intergenic UBE2L6,SERPING1 dist=8666;dist=20558 NA NA ncRNA_exonic ENSG00000240371 NA NA NA Score=810;Name=lod=2620 NA 11q12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787134 NA NA NA NA NA NA NA 6 1052 11 64942404 64942404 T G intergenic SPDYC,CAPN1 dist=1716;dist=6282 NA NA ncRNA_exonic ENSG00000255200 NA NA NA NA NA 11q13.1 NA Name=c-Myc,YY1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966417 NA NA NA NA NA NA NA 6 1052 12 25957237 25957237 T C intergenic IFLTD1,MIR4302 dist=155741;dist=69716 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA Name=35 NA rs77818804 NA NA 0.189 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082142 NA NA NA NA NA NA NA 6 1052 12 25957238 25957238 G A intergenic IFLTD1,MIR4302 dist=155742;dist=69715 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA Name=35 NA rs79801762 NA NA 0.187 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262944 NA NA NA NA NA NA NA 6 1052 12 25957284 25957284 G A intergenic IFLTD1,MIR4302 dist=155788;dist=69669 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA Name=35 NA rs74586715 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604344 NA NA NA NA NA NA NA 6 1052 12 25957285 25957285 A G intergenic IFLTD1,MIR4302 dist=155789;dist=69668 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA Name=35 NA rs76555392 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446709 NA NA NA NA NA NA NA 6 1052 12 25957298 25957298 C T intergenic IFLTD1,MIR4302 dist=155802;dist=69655 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA Name=35 NA rs77668942 NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351956 NA NA NA NA NA NA NA 6 1052 12 25957299 25957299 A G intergenic IFLTD1,MIR4302 dist=155803;dist=69654 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA Name=35 NA rs80243843 NA NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223739 NA NA NA NA NA NA NA 6 1052 12 25957372 25957372 A G intergenic IFLTD1,MIR4302 dist=155876;dist=69581 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=536;Name=lod=202 NA 12p12.1 NA NA Name=35 NA rs78214305 NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264465 NA NA NA NA NA 0.051 NA 6 1052 13 65533440 65533440 C T intergenic OR7E156P,PCDH9 dist=1216739;dist=1343526 NA NA ncRNA_exonic ENSG00000214269 NA NA NA Score=637;Name=lod=516 NA 13q21.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69856 NA NA NA NA NA NA NA 6 1052 14 64375794 64375794 C T intronic SYNE2 NA NA NA intronic ENSG00000054654 NA NA NA NA NA 14q23.2 NA NA Name=27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644694 NA NA NA NA NA NA NA 6 1052 14 106134672 106134672 G C intergenic TMEM121,ELK2AP dist=138133;dist=1242 NA NA ncRNA_exonic ENSG00000253755 NA NA NA NA NA 14q32.33 NA Name=Pol2 Name=5 NA rs10144636 0.11 0.11 0.11 NA NA NA NA NA NA 0.24 0.01 0.17 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.325239 1.325239 NA NA NA NA NA NA 6 1052 14 106134706 106134706 A G intergenic TMEM121,ELK2AP dist=138167;dist=1208 NA NA ncRNA_exonic ENSG00000253755 NA NA NA Score=321;Name=lod=27 NA 14q32.33 NA NA Name=5 NA rs10144399 NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963601 NA NA NA NA NA 0.007 NA 6 1052 15 20445987 20445987 C T intergenic NONE,CHEK2P2 dist=NONE;dist=42010 NA NA ncRNA_exonic ENSG00000258628 NA NA NA Score=451;Name=lod=91 NA 15q11.1 NA Name=ELF1_(SC-631) NA NA rs4931804 NA NA 0.061 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283334 NA 0 NA NA ID=COSM147861;OCCURENCE=1(stomach) 0.014 NA 6 1052 15 40476159 40476159 A G intronic BUB1B NA NA NA intronic ENSG00000156970 NA NA NA NA NA 15q15.1 NA NA Name=5 NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17976 NA NA NA NA NA NA NA 6 1052 15 76039257 76039257 G T intergenic DNM1P35,MIR4313 dist=6839;dist=15299 NA NA ncRNA_exonic ENSG00000260815 NA NA NA Score=684;Name=lod=805 NA 15q24.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660444 NA NA NA NA NA NA NA 6 1052 16 14530666 14530666 C A intronic PARN NA NA NA intronic ENSG00000140694 NA NA NA NA NA 16p13.12 NA NA Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626384 NA NA NA NA NA NA NA 6 1052 16 33401390 33401390 A C intergenic LOC390705,RNU6-76P dist=102688;dist=62117 NA NA ncRNA_intronic ENSG00000259882 NA NA NA Score=607;Name=lod=391 NA 16p11.2 NA NA Name=9 NA rs4887621 NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622503 NA NA NA NA NA 0.304 NA 6 1052 16 33401463 33401463 C T intergenic LOC390705,RNU6-76P dist=102761;dist=62044 NA NA ncRNA_exonic ENSG00000259882 NA NA NA Score=607;Name=lod=391 NA 16p11.2 NA NA Name=9 NA rs4887702 NA NA 0.243 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892679 NA NA NA NA NA 0.246 NA 6 1052 17 4648409 4648409 C G intronic ZMYND15 NA NA NA intronic ENSG00000141497 NA NA NA NA NA 17p13.2 NA NA Name=5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09389 NA NA NA NA NA NA NA 6 1052 17 21308914 21308914 G T intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA Name=PU.1 Name=16 NA rs1657711 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545717 NA NA NA NA NA 0.428 NA 6 1052 18 32459455 32459455 T C intronic DTNA NA NA NA intronic ENSG00000134769 NA NA NA NA NA 18q12.1 Score=913;Name=V$RORA1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944842 NA NA NA NA NA NA NA 6 1052 18 51731587 51731587 C T intronic MBD2 NA NA NA intronic ENSG00000134046 NA NA NA NA NA 18q21.2 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA NA NA NA NA 0.00459265 NA NA 0.0029 0.0159 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5517 NA NA NA NA NA NA NA 6 1052 19 878537 878537 G C intronic MED16 NA NA NA intronic ENSG00000175221 NA NA NA Score=620;Name=lod=441 NA 19p13.3 NA Name=Pol2 NA NA rs372596844 NA NA 0.188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542487 NA NA NA NA NA NA NA 6 1052 19 9646758 9646758 C T intronic ZNF426 NA NA NA intronic ENSG00000130818 NA NA NA NA NA 19p13.2 NA Name=BRF2 Name=10 NA rs77529567 0.03 0.03 0.026 0.0401358 NA NA 0.0086 0.1475 NA NA NA 0.01 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831456 NA NA NA NA NA 0.087 NA 6 1052 19 21752023 21752023 C G intergenic ZNF429,ZNF100 dist=30944;dist=154820 NA NA ncRNA_exonic ENSG00000268081 NA NA NA NA NA 19p12 NA Name=NF-YB,NF-YA,Pol2 Name=98 NA rs73025877 NA NA 0.248 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073141 NA NA NA NA NA 0.029 NA 6 1052 19 42334397 42334397 A T intergenic CEACAM3,LYPD4 dist=18806;dist=6753 NA NA ncRNA_exonic ENSG00000269119 NA NA NA Score=644;Name=lod=550 NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370661 1.370661 NA NA NA NA NA NA 6 1052 20 29874162 29874162 C T intergenic DEFB115,DEFB116 dist=26727;dist=16853 NA NA ncRNA_exonic ENSG00000224628 NA NA NA Score=681;Name=lod=782 NA 20q11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008868 NA NA NA NA NA NA NA 6 1052 20 62573697 62573697 A G intronic UCKL1 NA NA NA intronic ENSG00000198276 NA NA NA NA NA 20q13.33 NA Name=ELF1_(SC-631),Pol2(phosphoS2),GABP,IRF1,ELK4 Name=79 NA rs2427571 0.36 0.36 0.284 NA NA NA NA NA NA 0.24 0.43 0.35 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125201 NA NA NA NA NA NA NA 6 1052 21 11181645 11181645 G A intergenic BAGE,NONE dist=82708;dist=NONE NA NA ncRNA_exonic ENSG00000234643 NA NA NA Score=752;Name=lod=1523 NA 21p11.1 NA NA Name=21 NA rs1815434 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214147 NA NA NA NA NA 0.493 NA 6 1052 21 11181697 11181697 G T intergenic BAGE,NONE dist=82760;dist=NONE NA NA ncRNA_exonic ENSG00000234643 NA NA NA Score=752;Name=lod=1523 NA 21p11.1 NA NA Name=21 NA rs10439873 NA NA 0.337 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118041 NA NA NA NA NA NA NA 6 1052 21 11181699 11181699 C G intergenic BAGE,NONE dist=82762;dist=NONE NA NA ncRNA_exonic ENSG00000234643 NA NA NA Score=752;Name=lod=1523 NA 21p11.1 NA NA Name=21 NA rs10439874 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421102 NA NA NA NA NA NA NA 6 1052 22 16346383 16346383 A T intergenic POTEH,OR11H1 dist=58446;dist=102441 NA NA ncRNA_intronic ENSG00000224435 NA NA NA Score=606;Name=lod=387 NA 22q11.1 NA NA Name=2 NA rs61203019 NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577574 NA NA NA NA NA NA NA 6 1052 22 16346391 16346391 G A intergenic POTEH,OR11H1 dist=58454;dist=102433 NA NA ncRNA_intronic ENSG00000224435 NA NA NA Score=606;Name=lod=387 NA 22q11.1 NA NA Name=2 NA rs8141338 NA NA 0.442 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.227936 NA NA NA NA NA NA NA 6 1052 22 22759007 22759007 T G intergenic LOC96610,ZNF280B dist=81683;dist=79765 NA NA ncRNA_exonic ENSG00000253818 NA NA NA Score=336;Name=lod=31 NA 22q11.22 NA Name=TCF12,PU.1 NA NA rs391601 0.6 0.6 0.585 NA NA NA NA NA NA 0.59 0.56 0.63 0.62 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141135 NA NA NA NA NA 0.623 NA 6 1052 Y 10029711 10029711 A C intergenic TTTY23B,NONE dist=280140;dist=NONE NA NA ncRNA_exonic ENSG00000237447 NA NA NA Score=836;Name=lod=3342 NA Yp11.2 NA NA Name=96 NA rs78505352 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855026 NA NA NA NA NA NA NA 6 1052 3 37292998 37292998 A G intronic GOLGA4 NA NA NA intronic ENSG00000144674 NA NA NA NA NA 3p22.2 NA Name=MafK_(ab50322) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287258 NA NA NA NA NA NA NA 5.9999916 1052 11 64977484 64977484 C G intronic CAPN1 NA NA NA intronic ENSG00000014216 NA NA NA NA NA 11q13.1 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008363 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423951 NA NA NA NA NA NA NA 5.9999916 1052 19 19162420 19162420 A G intronic ARMC6 NA NA NA intronic ENSG00000105676 NA NA NA NA NA 19p13.11 NA Name=CTCF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009165 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06871 NA NA NA NA NA NA NA 5.9999908 1052 2 74656114 74656114 G A intronic RTKN NA NA NA intronic ENSG00000114993 NA NA NA NA NA 2p13.1 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001749 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56256 NA NA NA NA NA NA NA 5.9999825 1052 9 71862907 71862907 G A intronic TJP2 NA NA NA intronic ENSG00000119139 NA NA NA Score=361;Name=lod=39 NA 9q21.11 Score=881;Name=V$NCX_01 NA NA NA rs372881973 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002734 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.296122 5.296122 NA 0 0.000227 NA NA NA 5.9999727 1052 5 132219300 132219300 T C intronic AFF4 NA NA NA intronic ENSG00000072364 NA NA NA NA NA 5q31.1 NA Name=CTCF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000325 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320151 NA NA NA NA NA NA NA 5.9999675 1052 10 11291207 11291207 G A intronic CELF2 NA NA NA intronic ENSG00000048740 NA NA NA NA NA 10p14 NA NA Name=4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005799 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213779 NA NA NA NA NA NA NA 5.999942 1052 15 42142186 42142186 G T intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA NA Name=11 NA NA NA NA NA 0.000399361 NA NA 0.0029 NA NA NA NA NA NA 0.00007806 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34615 NA NA NA NA NA 0.007 NA 5.9999219 1052 1 144871676 144871676 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA Score=278;Name=lod=18 NA 1q21.1 NA Name=PU.1 NA NA rs368370644 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.588841 2.588841 NA 0.000116 0 NA NA NA 5.999884 1052 8 81471344 81471344 G A intergenic ZBTB10,ZNF704 dist=32844;dist=69342 NA NA ncRNA_exonic ENSG00000188856 NA NA NA Score=817;Name=lod=2780 NA 8q21.13 NA NA Name=19 NA rs191150231 0.0005 0.0005 NA 0.000399361 NA NA 0.0014 0.0008 NA NA NA 0.0028 NA 0.0001 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324808 1.324808 NA 0.000118 0.00023 NA NA NA 5.999782 1052 4 8219990 8219990 G C intronic SH3TC1 NA NA NA intronic ENSG00000125089 NA NA NA NA NA 4p16.1 NA NA NA NA rs185483665 NA NA NA 0.00179712 NA NA 0.0014 0.0061 NA NA NA NA NA 0.0006 0.0034 0 D . . . . . . 1.000 N . . . . -0.971 T 0.070 T . -0.183 3.111 -1.89 -0.350 -0.269 1.319 -0.182658 NA 0.26 0.000116 0.003404 NA 0.014 NA 5.999284 1052 6 42016246 42016246 T C UTR5 CCND3 NM_001136017:c.-107968A>G,NM_001136126:c.-111827A>G NA NA UTR5 ENSG00000112576 ENST00000372988:c.-107968A>G,ENST00000415497:c.-111827A>G,ENST00000510503:c.-107968A>G,ENST00000508143:c.-111827A>G,ENST00000502771:c.-107968A>G,ENST00000514588:c.-107509A>G NA NA NA NA 6p21.1 NA Name=USF-1,USF2,CTCFL_(SC-98982),ZNF263,USF1_(SC-8983),Pol2 Name=111 NA rs10456506 0.1 0.1 0.086 0.103634 0.0924 0.2569 0.0389 0.0076 0.1329 0.09 0.23 0.05 0.01 0.1302 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.818896 1.818896 NA 0.111614 0.025685 NA 0.08 NA 5.9991194 1052 19 18377496 18377496 C G exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.G854C:p.S285T,KIAA1683:NM_001145305:exon3:c.G716C:p.S239T,KIAA1683:NM_025249:exon3:c.G854C:p.S285T exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.G854C:p.S285T,ENSG00000130518:ENST00000600328:exon3:c.G854C:p.S285T,ENSG00000130518:ENST00000600359:exon3:c.G716C:p.S239T NA NA 19p13.11 NA NA NA NA rs8104533 0.53 0.53 0.527 0.544529 0.4294 0.5516 0.5908 0.6929 0.4223 0.43 0.52 0.53 0.69 0.4793 0.69 1 T 0.0 B 0.0 B 0.547 N 1.000 P -0.895 N 4.18 T -1.013 T 0.000 T 0.016 -1.755 0.01 1.08 0.078 -0.129 3.398 -1.754861 NA 1 0.425581 0.672265 NA 0.507 NA 5.9990524 1052 7 83634713 83634713 A G exonic SEMA3A NA synonymous SNV SEMA3A:NM_006080:exon11:c.T1302C:p.I434I exonic ENSG00000075213 NA synonymous SNV ENSG00000075213:ENST00000265362:exon11:c.T1302C:p.I434I,ENSG00000075213:ENST00000436949:exon12:c.T1302C:p.I434I Score=658;Name=lod=627 NA 7q21.11 NA NA NA NA rs7804122 0.21 0.21 0.203 0.22524 0.2058 0.1548 0.1729 0.2678 0.2975 0.23 0.15 0.21 0.25 0.2416 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.077472 NA NA 0.220233 0.262823 ID=COSM1452481;OCCURENCE=1(large_intestine) 0.304 NA 5.9990336 1052 1 149099815 149099815 G A intergenic LOC645166,LOC388692 dist=146761;dist=179661 NA NA ncRNA_exonic ENSG00000179571 NA NA NA NA NA 1q21.2 NA Name=PU.1 NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081312 NA NA NA NA NA NA NA 5.999 1052 2 52799643 52799643 C T intergenic NRXN1,ASB3 dist=1539969;dist=1097474 NA NA ncRNA_exonic ENSG00000204993 NA NA NA Score=739;Name=lod=1347 NA 2p16.3 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175508 NA NA NA NA NA NA NA 5.999 1052 2 133074727 133074727 T G intergenic ANKRD30BL,GPR39 dist=59185;dist=99420 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=STAT3 Name=7 NA rs74763985 NA NA 0.44 0.000199681 0.001 NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622605 NA NA NA NA NA 0.5 NA 5.999 1052 3 24188374 24188374 G A intronic THRB NA NA NA intronic ENSG00000151090 NA NA NA NA NA 3p24.2 NA Name=STAT3 NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300015 NA NA NA NA NA NA NA 5.999 1052 4 146461349 146461349 G A intronic SMAD1 NA NA NA intronic ENSG00000170365 NA NA NA NA NA 4q31.21 NA NA Name=63 NA NA NA NA NA 0.00139776 0.001 NA NA NA 0.0061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742683 NA NA NA NA NA NA NA 5.999 1052 4 170712646 170712646 C T intergenic C4orf27,LOC100506085 dist=33553;dist=126266 NA NA ncRNA_exonic ENSG00000229204 NA NA NA Score=663;Name=lod=658 NA 4q33 NA NA NA NA NA NA NA NA 0.000599042 0.001 NA 0.0029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396903 NA NA NA NA NA NA NA 5.999 1052 6 97052548 97052548 G A intronic FHL5 NA NA NA intronic ENSG00000112214 NA NA NA NA NA 6q16.1 NA Name=EBF Name=3 NA rs77872007 0.01 0.01 0.009 0.0113818 0.001 NA 0.0043 0.0386 0.002 0.0013 NA 0.01 0.03 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666765 NA NA NA NA NA 0.022 NA 5.999 1052 8 144891658 144891658 C T intronic SCRIB NA NA NA intronic ENSG00000180900 NA NA NA NA NA 8q24.3 NA NA Name=3 NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431144 NA NA NA NA NA NA NA 5.999 1052 9 131016842 131016842 G A intronic DNM1 NA NA NA intronic ENSG00000106976 NA NA NA NA NA 9q34.11 NA Name=E2F6_(H-50),ELF1_(SC-631),IRF1 Name=4 NA rs116177116 0.01 0.01 0.011 0.0133786 0.001 NA 0.0043 0.0469 0.001 NA NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.724371 NA NA NA NA NA 0.014 NA 5.999 1052 12 56628823 56628823 A G intronic SLC39A5 NA NA NA intronic ENSG00000139540 NA NA NA NA NA 12q13.3 NA Name=GATA-2 NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51034 NA NA NA NA NA NA NA 5.999 1052 16 31885357 31885357 C G intronic ZNF267 NA NA NA intronic ENSG00000185947 NA NA NA NA NA 16p11.2 NA Name=YY1_(C-20),Pol2,TAF1,ELF1_(SC-631),Pol2-4H8,YY1,Pol2(b) NA NA NA NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062929 NA NA NA NA NA NA NA 5.999 1052 17 5036104 5036104 A C intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA Score=483;Name=lod=123 NA 17p13.2 NA Name=CTCF NA NA rs56330904 0.05 0.05 0.066 0.0692891 0.001 NA 0.0115 0.2557 NA NA NA 0.02 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205543 NA NA NA NA NA 0.043 NA 5.999 1052 19 3984039 3984039 G A intronic EEF2 NA NA NA intronic ENSG00000167658 NA NA NA NA NA 19p13.3 NA Name=CEBPB NA NA NA NA NA NA 0.000998403 0.001 NA 0.0029 0.0008 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113014 NA NA NA NA NA NA NA 5.999 1052 20 9389909 9389909 G C intronic PLCB4 NA NA NA intronic ENSG00000101333 NA NA NA NA NA 20p12.2 NA Name=p300 Name=16 NA rs138006275 0.0037 0.0037 0.003 0.00459265 0.001 NA 0.0043 0.0136 0.001 NA NA 0.01 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268946 1.268946 NA NA NA NA 0.007 NA 5.999 1052 2 105665808 105665808 C T exonic MRPS9 NA synonymous SNV MRPS9:NM_182640:exon2:c.C315T:p.D105D exonic ENSG00000135972 NA synonymous SNV ENSG00000135972:ENST00000258455:exon2:c.C315T:p.D105D Score=670;Name=lod=702 NA 2q12.1 NA NA NA NA rs11538197 0.2 0.2 0.179 0.192292 0.2247 0.1101 0.2882 0.2239 0.1329 0.22 0.13 0.26 0.22 0.2024 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088117 NA NA 0.240693 0.221036 NA 0.145 NA 5.9988736 1052 1 186031041 186031041 C T exonic HMCN1 NA synonymous SNV HMCN1:NM_031935:exon47:c.C7371T:p.C2457C exonic ENSG00000143341 NA synonymous SNV ENSG00000143341:ENST00000271588:exon47:c.C7371T:p.C2457C,ENSG00000143341:ENST00000367492:exon47:c.C7371T:p.C2457C Score=545;Name=lod=219 NA 1q31.1 NA NA Name=5 NA rs7522627 0.64 0.64 0.655 0.654353 0.5348 0.5903 0.647 0.8495 0.5849 0.55 0.61 0.62 0.84 0.598 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804509 NA NA 0.535116 0.810486 NA 0.667 NA 5.9987506 1052 19 5616061 5616061 G A intronic SAFB2 NA NA NA intronic ENSG00000130254 NA NA NA NA NA 19p13.3 NA NA Name=28 NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030771 NA NA NA NA NA NA NA 5.9987 1052 1 212588206 212588206 C G UTR5 TMEM206 NM_001198862:c.-107G>C,NM_018252:c.-107G>C NA NA UTR5 ENSG00000065600 ENST00000261455:c.-107G>C,ENST00000535273:c.-107G>C NA NA NA NA 1q32.3 NA Name=FOXA1_(C-20),E2F4,HMGN3,GABP,TAF1,ETS1,Znf143_(16618-1-AP),Sin3Ak-20,YY1_(C-20),HA-E2F1,TAF7_(SQ-8),HDAC2_(SC-6296),Pol2-4H8,E2F1,Pol2,Mxi1_(bHLH),Pol2(phosphoS2),PAX5-C20,SIX5,Max,ZBTB7A_(SC-34508),c-Myc,CCNT2,ELF1_(SC-631),HEY1,TBP,IRF1,CTCF,p300,Nrf1 Name=147 NA rs518793 0.23 0.23 0.194 0.191693 0.335 0.1161 0.2406 0.1415 0.1554 0.33 0.11 0.29 0.17 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.576044 1.576044 NA NA NA NA 0.159 NA 5.9983334 1052 6 17706493 17706493 G A intronic NUP153 NA NA NA ncRNA_exonic ENSG00000272269 NA NA NA NA NA 6p22.3 NA Name=HEY1,c-Myc,Max,Oct-2,USF-1,CTCF,E2F6_(H-50),Pol2(b),TAF1,HMGN3,POU2F2,YY1,Pol2,E2F6,Pol2-4H8,Sin3Ak-20 Name=143 NA rs13219933 0.08 0.08 0.086 0.0948482 0.0974 0.0774 0.134 0.087 0.093 0.09 0.06 0.13 0.06 0.1156 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.056916 NA NA 0.122005 0.097045 NA 0.072 NA 5.9983283 1052 9 131191332 131191332 G C intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA Name=HEY1,Pol2-4H8,Pol2(b),Pol2,TAF1 Name=61 NA rs201116187 NA NA NA 0.000998403 NA NA 0.0014 0.003 NA NA NA NA NA 0.001 0.0009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41839 NA NA 0.000698 0.000908 NA NA NA 5.998302 1052 16 71961483 71961483 G A intronic IST1 NA NA NA intronic ENSG00000182149 NA NA NA NA NA 16q22.2 NA Name=p300,AP-2gamma,JunD,c-Fos,GATA-2,c-Jun Name=126 NA rs199547471 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0008 0.0009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299273 NA NA 0.00093 0.000455 NA NA NA 5.99827 1052 8 48077038 48077038 C T intergenic LINC00293,LOC100287846 dist=309631;dist=23892 NA NA ncRNA_intronic ENSG00000248347,ENSG00000248531 NA NA NA Score=395;Name=lod=54 NA 8q11.1 NA NA NA NA NA NA NA 0.003 0.00159744 0.002 NA 0.0014 0.0023 0.002 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727651 NA NA NA NA NA 0.014 NA 5.998 1052 9 100461756 100461756 C T intergenic XPA,FOXE1 dist=2065;dist=153781 NA NA ncRNA_exonic ENSG00000214417 NA NA NA Score=565;Name=lod=264 NA 9q22.33 NA NA Name=17 NA rs73500398 0.13 0.13 0.113 0.169529 0.002 0.1518 0.1628 0.4213 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187491 NA NA NA NA NA 0.109 NA 5.998 1052 17 73264082 73264082 C T intronic MIF4GD NA NA NA intronic ENSG00000125457 NA NA NA NA NA 17q25.1 NA Name=Pol2,FOXA2_(SC-6554),FOXA1_(SC-101058),Pol2-4H8,FOXA1_(C-20) Name=36 NA rs73356374 0.13 0.13 0.136 0.160543 0.002 0.0992 0.0893 0.4221 0.0838 0.0026 0.06 0.09 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.081247 2.081247 NA NA NA NA 0.181 NA 5.998 1052 8 163249 163249 T C ncRNA_exonic RPL23AP53 NA NA NA ncRNA_exonic ENSG00000223508 NA NA NA Score=713;Name=lod=1055 NA 8p23.3 NA Name=CEBPB NA NA rs2906361 0.5 0.5 0.52 0.499601 0.669 0.5069 0.6888 0.2398 0.5348 0.64 0.44 0.66 0.25 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959647 NA NA NA NA NA 0.319 NA 5.9976666 1052 4 125592065 125592065 C A exonic ANKRD50 NA synonymous SNV ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A exonic ENSG00000151458 NA synonymous SNV ENSG00000151458:ENST00000515641:exon3:c.G1830T:p.A610A,ENSG00000151458:ENST00000504087:exon4:c.G2367T:p.A789A Score=458;Name=lod=97 NA 4q28.1 NA NA NA NA rs10018651 0.25 0.25 0.243 0.286741 0.2107 0.2619 0.2233 0.3918 0.2935 0.21 0.25 0.2 0.37 0.2495 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07105 NA NA 0.209302 0.355878 NA 0.21 NA 5.9971646 1052 1 203152047 203152047 C T intronic CHI3L1 NA NA NA intronic ENSG00000133048 NA NA NA NA NA 1q32.1 NA Name=Pol2 NA NA NA NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457415 NA NA NA NA NA NA NA 5.997 1052 1 220986465 220986465 G A intronic MARC1 NA NA NA intronic ENSG00000186205 NA NA NA NA NA 1q41 NA Name=Rad21,eGFP-FOS,CTCF,E2F6_(H-50),CTCFL_(SC-98982),CTCF_(SC-5916),SMC3_(ab9263),eGFP-JunD Name=20 NA rs76300295 0.02 0.02 0.02 0.024361 0.003 0.0456 0.0086 0.0076 0.0583 0.0026 0.06 0.01 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101569 NA NA NA NA NA 0.007 NA 5.997 1052 2 81425111 81425111 A G intergenic CTNNA2,LOC1720 dist=549123;dist=1658816 NA NA ncRNA_exonic ENSG00000234429 NA NA NA Score=295;Name=lod=21 NA 2p12 NA NA NA NA NA NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276589 NA NA NA NA NA 0.007 NA 5.997 1052 4 165864505 165864505 G A intergenic LOC100506013,TRIM61 dist=45829;dist=11093 NA NA ncRNA_exonic ENSG00000121089 NA NA NA Score=660;Name=lod=643 NA 4q32.3 NA NA Name=11 NA rs61730550 0.01 0.01 0.006 0.0167732 0.003 NA 0.0029 0.0598 NA 0.0026 NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.015063 2.015063 0.19 NA NA NA 0.007 NA 5.997 1052 6 10695158 10695158 T C upstream C6orf52,PAK1IP1 NA NA NA UTR5 ENSG00000111845 ENST00000379568:c.-61T>C NA NA NA NA 6p24.2 NA Name=ELK4,POU2F2,USF2,GABP,E2F6_(H-50),TAF1,GATA-1,SIRT6,BCLAF1_(M33-P5B11),Sin3Ak-20,BRCA1_(C-1863),YY1_(C-20),USF1_(SC-8983),Pol2-4H8,E2F6,HDAC2_(SC-6296),KAP1,MEF2A,SP1,ATF3,Mxi1_(bHLH),Pol2,YY1,PAX5-C20,SIX5,Oct-2,SRF,c-Myc,Max,NFKB,HEY1,ELF1_(SC-631),TBP,CHD2_(N-1250),NF-E2_(H-230),IRF1,USF-1,BHLHE40,p300 Name=148 NA rs7745856 0.07 0.07 0.084 0.0938498 0.003 0.0387 0.013 0.3003 0.0225 0.0013 0.03 0.01 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014034 NA NA NA NA NA 0.101 NA 5.997 1052 7 6976199 6976199 C G intergenic CCZ1B,LOC100131257 dist=110273;dist=139202 NA NA ncRNA_exonic ENSG00000242731 NA NA NA Score=517;Name=lod=168 NA 7p22.1 NA NA NA NA NA NA NA NA 0.00139776 0.003 NA NA 0.0023 0.001 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072503 NA NA NA NA NA 0.007 NA 5.997 1052 6 25849620 25849620 A G exonic SLC17A3 NA synonymous SNV SLC17A3:NM_006632:exon10:c.T1110C:p.S370S,SLC17A3:NM_001098486:exon11:c.T1344C:p.S448S exonic ENSG00000124564 NA synonymous SNV ENSG00000124564:ENST00000505420:exon1:c.T3C:p.S1S,ENSG00000124564:ENST00000360657:exon10:c.T1110C:p.S370S,ENSG00000124564:ENST00000361703:exon10:c.T1110C:p.S370S,ENSG00000124564:ENST00000397060:exon11:c.T1344C:p.S448S NA NA 6p22.2 NA NA NA NA rs942379 0.73 0.73 0.718 0.703075 0.5388 0.8105 0.6902 0.9198 0.4775 0.54 0.83 0.68 0.92 0.6019 0.92 . . . . . . . . 0.015 P . . . . -1.018 T 0.031 T . 0.095 4.51 -0.836 -0.075 -1.080 4.030 0.094579 NA NA 0.529419 0.85429 NA 0.616 NA 5.9965476 1052 4 125591687 125591687 A G exonic ANKRD50 NA synonymous SNV ANKRD50:NM_001167882:exon3:c.T2208C:p.N736N,ANKRD50:NM_020337:exon4:c.T2745C:p.N915N exonic ENSG00000151458 NA synonymous SNV ENSG00000151458:ENST00000515641:exon3:c.T2208C:p.N736N,ENSG00000151458:ENST00000504087:exon4:c.T2745C:p.N915N Score=512;Name=lod=160 NA 4q28.1 NA NA NA NA rs3733471 0.26 0.26 0.241 0.28734 0.2107 0.2629 0.2233 0.3933 0.2935 0.21 0.25 0.2 0.37 0.2499 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006225 NA NA 0.209651 0.356559 NA 0.217 NA 5.9964156 1052 17 27052263 27052263 G A intronic TLCD1 NA NA NA intronic ENSG00000160606 NA NA NA NA NA 17q11.2 NA Name=HEY1,CCNT2,ZNF263,KAP1,Pol2-4H8,EBF,eGFP-JunB,Pol2(b),CTCF,eGFP-HDAC8,Pol2(phosphoS2),Pol2 Name=146 NA rs138741909 0.0009 0.0009 0 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134221 NA NA 0.001886 0 NA NA NA 5.996114 1052 3 46713457 46713457 C G exonic ALS2CL NA synonymous SNV ALS2CL:NM_182775:exon9:c.G642C:p.T214T,ALS2CL:NM_001190707:exon24:c.G2601C:p.T867T,ALS2CL:NM_147129:exon24:c.G2601C:p.T867T exonic ENSG00000178038 NA synonymous SNV ENSG00000178038:ENST00000383742:exon9:c.G642C:p.T214T,ENSG00000178038:ENST00000318962:exon24:c.G2601C:p.T867T,ENSG00000178038:ENST00000415953:exon24:c.G2601C:p.T867T NA NA 3p21.31 Score=715;Name=V$BRACH_01 NA NA NA rs7625303 0.27 0.27 0.227 0.250399 0.2197 0.38 0.2968 0.1483 0.2536 0.21 0.38 0.32 0.2 0.236 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.207581 NA NA 0.214884 0.164094 NA 0.297 NA 5.9960826 1052 2 95403675 95403675 G T intergenic NONE,FAM95A dist=NONE;dist=17396 NA NA ncRNA_exonic ENSG00000213355 NA NA NA Score=674;Name=lod=729 NA 2q11.1 NA NA NA NA NA NA NA NA 0.00119808 0.004 NA 0.0014 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116838 NA NA NA NA NA NA NA 5.996 1052 19 11221506 11221506 A C intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA Name=Pol2-4H8,Pol2(b) Name=3 NA rs55642005 0.0014 0.0014 NA 0.00159744 0.004 NA 0.0029 0.0008 0.001 0.0013 NA 0.0028 0.002 NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070737 NA NA NA NA NA NA NA 5.996 1052 5 73072354 73072354 T C exonic ARHGEF28 NA nonsynonymous SNV ARHGEF28:NM_001080479:exon6:c.T673C:p.W225R,ARHGEF28:NM_001177693:exon6:c.T673C:p.W225R exonic ENSG00000214944 NA nonsynonymous SNV ENSG00000214944:ENST00000426542:exon5:c.T673C:p.W225R,ENSG00000214944:ENST00000437974:exon5:c.T673C:p.W225R,ENSG00000214944:ENST00000287898:exon6:c.T673C:p.W225R,ENSG00000214944:ENST00000296794:exon6:c.T673C:p.W225R,ENSG00000214944:ENST00000513042:exon6:c.T673C:p.W225R,ENSG00000214944:ENST00000545377:exon6:c.T673C:p.W225R NA NA 5q13.2 NA NA NA NA rs7714670 0.38 0.38 0.345 0.370407 0.4573 0.3194 0.366 0.3381 0.3804 0.46 0.3 0.37 0.34 0.4284 0.46 0.9 T 0.0 B 0.0 B . . 1.000 P -1.5 N 3.38 T -0.947 T 0.000 T 0.067 -2.171 0.005 0.823 0.151 0.228 4.501 -2.170811 NA 0.87 0.452076 0.358504 ID=COSM450035,COSM450036;OCCURENCE=1(breast) 0.326 NA 5.9955574 1052 21 40250776 40250776 C A intergenic ETS2,PSMG1 dist=53898;dist=296596 NA NA ncRNA_exonic ENSG00000205622 NA NA NA NA NA 21q22.2 NA Name=STAT3,CEBPB Name=27 NA rs115935343 0.01 0.01 0.01 0.0145767 NA NA 0.0058 0.0522 NA NA NA 0.0028 0.04 0.0045 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051457 NA NA 0.000489 0.044715 NA 0.022 NA 5.995011 1052 19 13080308 13080308 C T upstream DAND5 NA NA NA UTR5 ENSG00000179284 ENST00000317060:c.-167C>T NA NA NA NA 19p13.2 NA Name=Egr-1 Name=32 NA rs73006806 0.0037 0.0037 0.003 0.00439297 0.005 NA 0.0043 0.0008 0.0133 0.01 NA 0.0028 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162821 NA NA NA NA NA 0.007 NA 5.995 1053 22 30891250 30891250 T C exonic SEC14L4 NA synonymous SNV SEC14L4:NM_001161368:exon5:c.A414G:p.Q138Q,SEC14L4:NM_174977:exon5:c.A414G:p.Q138Q exonic ENSG00000133488 NA synonymous SNV ENSG00000133488:ENST00000255858:exon5:c.A414G:p.Q138Q,ENSG00000133488:ENST00000381982:exon5:c.A414G:p.Q138Q,ENSG00000133488:ENST00000392772:exon5:c.A252G:p.Q84Q,ENSG00000133488:ENST00000540456:exon6:c.A369G:p.Q123Q Score=317;Name=lod=26 NA 22q12.2 NA NA NA NA rs9606738 0.16 0.16 0.125 0.160343 0.2296 0.0397 0.2867 0.1505 0.137 0.22 0.04 0.23 0.16 0.2158 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.096097 NA NA 0.226512 0.166137 NA 0.08 NA 5.9947546 1053 19 39224317 39224317 C T intronic CAPN12 NA NA NA intronic ENSG00000182472 NA NA NA NA NA 19q13.2 NA Name=Pol2-4H8,c-Fos,Pol2 Name=50 NA rs117235339 0.0014 0.0014 0.003 0.00638978 0.002 NA 0.0014 NA 0.0297 0.0026 NA 0.0028 NA 0.0031 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647704 NA NA 0.000349 0 NA NA NA 5.994551 1053 18 47021662 47021662 G A intergenic RPL17-C18orf32,LIPG dist=2727;dist=66765 NA NA ncRNA_exonic ENSG00000265182 NA NA NA Score=628;Name=lod=475 NA 18q21.1 NA NA Name=4 NA rs186011163 0.0014 0.0014 NA 0.00159744 0.006 NA 0.0029 NA NA 0.004 NA NA NA NA 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.084509 2.084509 NA NA NA NA NA NA 5.994 1053 3 10302172 10302172 G A exonic TATDN2 NA nonsynonymous SNV TATDN2:NM_014760:exon3:c.G766A:p.V256I exonic ENSG00000157014,ENSG00000272410 NA nonsynonymous SNV ENSG00000272410:ENST00000437082:exon2:c.G595A:p.V199I,ENSG00000157014:ENST00000287652:exon3:c.G766A:p.V256I,ENSG00000157014:ENST00000448281:exon3:c.G766A:p.V256I NA NA 3p25.3 NA NA NA NA rs394558 0.56 0.56 0.557 0.596246 0.4304 0.9643 0.4207 0.3737 0.8129 0.41 0.98 0.43 0.4 0.5061 0.98 0.75 T 0.027 B 0.006 B 0.383 N 1.000 P 1.61 L 1.81 T -0.946 T 0.000 T 0.052 -0.034 3.84 0.786 0.055 0.634 5.504 -0.034032 NA 0.4 0.403023 0.373808 NA 0.58 NA 5.9938104 1053 14 50769717 50769717 G A exonic L2HGDH NA synonymous SNV L2HGDH:NM_024884:exon2:c.C159T:p.I53I exonic ENSG00000087299 NA synonymous SNV ENSG00000087299:ENST00000261699:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000267436:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000421284:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000555423:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000555610:exon2:c.C159T:p.I53I Score=428;Name=lod=73 NA 14q21.3 Score=936;Name=V$TCF11_01 NA NA NA rs2297995 0.57 0.57 0.592 0.596645 0.5477 0.6468 0.5317 0.6407 0.5818 0.55 0.63 0.49 0.61 0.5701 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.143429 NA NA 0.555116 0.611666 NA 0.536 NA 5.9937506 1053 14 101447373 101447373 T C ncRNA_exonic SNORD114-20 NA NA NA ncRNA_exonic ENSG00000202048 NA NA NA NA NA 14q32.31 NA Name=FOSL2,JunD Name=5 NA rs34158896 0.13 0.13 0.115 0.107029 0.2425 0.0694 0.1383 0.0106 0.1145 0.24 0.06 0.17 0.01 0.1738 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197751 NA NA 0.256655 0.058219 NA 0.217 NA 5.9937116 1053 17 41167957 41167957 C A UTR3 VAT1 NM_006373:c.*121G>T NA NA splicing ENSG00000108828 ENST00000592388:exon3:c.211+1G>T NA NA Score=259;Name=lod=15 NA 17q21.31 NA NA Name=34 NA rs455055 0.67 0.67 0.665 0.625 0.673 0.9177 0.7118 0.2844 0.6728 0.68 0.94 0.68 0.32 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17941 NA NA NA NA NA 0.659 NA 5.9936667 1053 22 18189469 18189469 G A UTR5 BCL2L13 NM_001270733:c.-20214G>A NA NA intronic ENSG00000099968 NA NA NA NA NA 22q11.21 NA Name=TBP,MafK_(ab50322),STAT3,RFX5_(N-494),Pol2-4H8,c-Fos,ZNF263,c-Jun,EBF,Pol2(b),JunD,EBF1_(C-8),p300,Rad21,PU.1,Pol2,TAF1,USF2 Name=144 NA rs2587086 0.1 0.1 0.082 0.0726837 0.173 0.004 0.1326 0.0265 0.0603 0.19 0.0035 0.14 0.03 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335729 NA NA NA NA NA 0.138 NA 5.9936667 1053 12 125441359 125441359 T C exonic DHX37 NA synonymous SNV DHX37:NM_032656:exon18:c.A2331G:p.T777T exonic ENSG00000150990 NA synonymous SNV ENSG00000150990:ENST00000544745:exon15:c.A1692G:p.T564T,ENSG00000150990:ENST00000308736:exon18:c.A2331G:p.T777T NA NA 12q24.31 Score=798;Name=V$OLF1_01 NA NA NA rs10773127 0.35 0.35 0.391 0.380192 0.2058 0.2034 0.2536 0.8533 0.1922 0.2 0.19 0.24 0.85 0.2555 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341163 NA NA 0.211744 0.760781 ID=COSM287884;OCCURENCE=1(large_intestine) 0.529 NA 5.9936226 1053 8 124664130 124664130 C T exonic KLHL38 NA nonsynonymous SNV KLHL38:NM_001081675:exon1:c.G1037A:p.R346K exonic ENSG00000175946 NA nonsynonymous SNV ENSG00000175946:ENST00000325995:exon1:c.G1037A:p.R346K NA NA 8q24.13 NA NA NA NA rs11780509 0.72 0.72 0.741 0.706869 0.8022 0.7113 0.6902 0.6604 0.6789 0.8 0.7 0.69 0.64 0.749 0.8 1 T 0.0 B 0.001 B 0.050 N 1.000 P 0 N -0.17 T -0.951 T 0.000 T 0.003 0.343 5.86 -0.060 0.034 1.274 4.716 0.34283 NA 1 0.788663 0.709091 NA 0.812 NA 5.9934704 1053 1 155295003 155295003 G C intronic RUSC1 NA NA NA intronic ENSG00000160753 NA NA NA NA NA 1q22 NA Name=ELF1_(SC-631),Rad21,BCL3,IRF1,CTCF,ELK4,GATA-1,E2F6_(H-50),YY1_(C-20),GATA3_(SC-268),CTCF_(SC-5916),Pol2,NRSF,Ini1,SMC3_(ab9263) Name=84 NA rs12087231 0.02 0.02 0.015 0.0285543 NA NA 0.0043 0.1059 NA NA NA 0.01 0.08 0.0063 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463494 NA NA 0.000233 0.063096 NA 0.029 NA 5.993467 1053 7 151200567 151200567 C T intronic RHEB NA NA NA intronic ENSG00000106615 NA NA NA Score=859;Name=lod=4131 NA 7q36.1 NA NA Name=4 NA rs181887983 0.0037 0.0037 NA 0.00299521 0.007 NA 0.0072 0.0008 0.002 0.01 NA 0.01 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.431593 NA NA NA NA NA 0.007 NA 5.993 1053 4 166021811 166021811 G C exonic TMEM192 NA synonymous SNV TMEM192:NM_001100389:exon3:c.C408G:p.L136L exonic ENSG00000170088 NA synonymous SNV ENSG00000170088:ENST00000306480:exon3:c.C408G:p.L136L,ENSG00000170088:ENST00000506087:exon4:c.C396G:p.L132L Score=336;Name=lod=31 NA 4q32.3 NA NA NA NA rs6536890 0.35 0.35 0.39 0.35024 0.1928 0.3651 0.2334 0.6263 0.2065 0.18 0.36 0.23 0.66 0.2595 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314666 NA NA 0.221576 0.532464 NA 0.341 NA 5.9927906 1053 7 100485303 100485303 C T intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=Pol2,PU.1,NRSF,IRF4_(M-17),E2F6,TAF1,Pol2-4H8,ZBTB7A_(SC-34508) Name=44 NA rs201504096 0.0009 0.0009 NA 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA NA 0.0013 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69799 NA NA 0.00407 0.000454 NA NA NA 5.99263 1053 19 38800165 38800165 C T exonic YIF1B NA synonymous SNV YIF1B:NM_033557:exon1:c.G84A:p.L28L,YIF1B:NM_001039671:exon2:c.G132A:p.L44L,YIF1B:NM_001039672:exon2:c.G177A:p.L59L,YIF1B:NM_001039673:exon2:c.G168A:p.L56L,YIF1B:NM_001145461:exon2:c.G126A:p.L42L,YIF1B:NM_001145462:exon2:c.G84A:p.L28L,YIF1B:NM_001145463:exon2:c.G168A:p.L56L exonic ENSG00000167645 NA synonymous SNV ENSG00000167645:ENST00000392124:exon1:c.G84A:p.L28L,ENSG00000167645:ENST00000592246:exon1:c.G84A:p.L28L,ENSG00000167645:ENST00000329420:exon2:c.G132A:p.L44L,ENSG00000167645:ENST00000337679:exon2:c.G168A:p.L56L,ENSG00000167645:ENST00000339413:exon2:c.G177A:p.L59L,ENSG00000167645:ENST00000587039:exon2:c.G84A:p.L28L,ENSG00000167645:ENST00000589247:exon2:c.G126A:p.L42L,ENSG00000167645:ENST00000591755:exon2:c.G168A:p.L56L,ENSG00000167645:ENST00000591784:exon2:c.G84A:p.L28L,ENSG00000167645:ENST00000592694:exon2:c.G84A:p.L28L Score=366;Name=lod=41 NA 19q13.2 NA NA NA NA rs3900981 0.23 0.23 0.189 0.222045 0.2296 0.2331 0.3213 0.1407 0.2423 0.23 0.25 0.31 0.15 0.248 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971973 NA NA 0.197463 0.164244 NA 0.152 NA 5.9916036 1053 21 37541979 37541979 C G intronic DOPEY2 NA NA NA ncRNA_exonic ENSG00000228149 NA NA NA Score=831;Name=lod=3173 NA 21q22.12 NA NA Name=2 NA rs2835292 0.37 0.37 0.348 0.411342 0.3419 0.3938 0.2738 0.4607 0.5317 0.35 0.39 0.28 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047766 NA NA NA NA NA 0.283 NA 5.9914333 1053 21 37542389 37542389 C G intronic DOPEY2 NA NA NA ncRNA_exonic ENSG00000228149 NA NA NA Score=831;Name=lod=3173 NA 21q22.12 NA Name=CTCF NA NA rs4817785 0.37 0.37 0.368 0.411142 0.3419 0.3938 0.2738 0.4607 0.5307 0.35 0.39 0.28 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076817 NA NA NA NA NA 0.29 NA 5.9914333 1053 7 1478576 1478576 G A exonic MICALL2 NA synonymous SNV MICALL2:NM_182924:exon10:c.C2022T:p.D674D exonic ENSG00000164877 NA nonsynonymous SNV ENSG00000164877:ENST00000413446:exon9:c.C1892T:p.T631M NA NA 7p22.3 NA NA NA NA rs61736386 0.02 0.02 0.014 0.0231629 NA NA 0.0043 0.0673 0.0245 NA NA 0.01 0.08 0.0085 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034728 NA 0.15 0.000116 0.051544 NA 0.029 NA 5.991384 1053 14 75413068 75413068 G C intronic PGF NA NA NA intronic ENSG00000119630 NA NA NA NA NA 14q24.3 NA Name=CTCF,Pol2,TAF7_(SQ-8) Name=134 NA rs182766382 0.0014 0.0014 NA 0.000599042 0.001 NA 0.0029 NA NA NA NA 0.01 NA 0.0026 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.250052 2.250052 NA 0.005814 0.000908 NA NA NA 5.990586 1053 19 54120122 54120122 C T intergenic LOC284379,DPRX dist=13371;dist=15188 NA NA ncRNA_exonic ENSG00000269608 NA NA NA Score=699;Name=lod=926 NA 19q13.42 NA Name=HEY1 NA NA rs148541481 0.01 0.01 0.005 0.00339457 0.0099 NA 0.0072 0.0008 0.001 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516554 NA NA NA NA NA 0.014 NA 5.9901 1053 20 24930085 24930085 G A UTR5 CST7 NM_003650:c.-57G>A NA NA exonic ENSG00000077984 NA nonsynonymous SNV ENSG00000077984:ENST00000376835:exon1:c.G10A:p.E4K NA NA 20p11.21 NA NA NA NA rs227653 0.1 0.1 0.102 0.0842652 0.1183 0.0605 0.1066 0.0711 0.0757 0.11 0.07 0.14 0.08 0.0991 0.14 0 D . . . . . . 1.000 P . . 2.9 T -1.032 T 0.000 T 0.105 1.198 9.869 0.436 0.468 0.000 . 1.198486 NA 0 0.126308 0.102587 NA 0.058 NA 5.9896254 1053 17 26105932 26105932 G A exonic NOS2 NA synonymous SNV NOS2:NM_000625:exon10:c.C1155T:p.D385D exonic ENSG00000007171 NA synonymous SNV ENSG00000007171:ENST00000313735:exon10:c.C1155T:p.D385D NA NA 17q11.2 Score=810;Name=V$CEBP_C NA NA NA rs1137933 0.2 0.2 0.184 0.194489 0.2445 0.1736 0.1974 0.1815 0.18 0.24 0.15 0.22 0.2 0.207 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218846 NA NA 0.225581 0.187018 NA 0.225 NA 5.9895856 1053 2 160885418 160885418 G C exonic PLA2R1 NA nonsynonymous SNV PLA2R1:NM_001007267:exon5:c.C898G:p.H300D,PLA2R1:NM_001195641:exon5:c.C898G:p.H300D,PLA2R1:NM_007366:exon5:c.C898G:p.H300D exonic ENSG00000153246 NA nonsynonymous SNV ENSG00000153246:ENST00000283243:exon5:c.C898G:p.H300D,ENSG00000153246:ENST00000392771:exon5:c.C898G:p.H300D NA NA 2q24.2 NA NA NA NA rs35771982 0.32 0.32 0.287 0.250998 0.4702 0.3532 0.268 0.0371 0.1973 0.48 0.35 0.3 0.05 0.3852 0.49 0.64 T 0.0 B 0.0 B 0.583 N 1.000 P -0.625 N 2.46 T -0.932 T 0.000 T 0.03 -1.576 0.014 -0.954 -0.102 -0.203 5.478 -1.576005 NA 0.66 0.488372 0.100318 NA 0.232 NA 5.9895614 1053 19 14676222 14676222 G T intronic TECR NA NA NA intronic ENSG00000099797 NA NA NA NA NA 19p13.12 NA Name=ZBTB33 Name=2 NA rs73002862 0.0041 0.0041 0.003 0.00239617 0.0109 NA NA 0.0008 NA 0.01 NA 0.0028 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.478123 1.478123 NA NA NA NA 0.051 NA 5.9891 1053 9 127764305 127764305 G A exonic SCAI NA synonymous SNV SCAI:NM_001144877:exon12:c.C1083T:p.S361S,SCAI:NM_173690:exon13:c.C1152T:p.S384S exonic ENSG00000173611 NA synonymous SNV ENSG00000173611:ENST00000336505:exon12:c.C1083T:p.S361S,ENSG00000173611:ENST00000477186:exon12:c.C1083T:p.S361S,ENSG00000173611:ENST00000373549:exon13:c.C1152T:p.S384S Score=596;Name=lod=351 NA 9q33.3 NA NA NA NA rs764304 0.16 0.16 0.156 0.152756 0.2555 0.1121 0.1138 0.0877 0.2045 0.26 0.1 0.12 0.1 0.1931 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029889 NA NA 0.229733 0.096215 ID=COSM150715;OCCURENCE=1(stomach) 0.123 NA 5.9883336 1053 17 4872434 4872434 C T intronic CAMTA2 NA NA NA intronic ENSG00000108509 NA NA NA NA NA 17p13.2 NA Name=TAF1,Pol2(phosphoS2),Pol2 Name=123 NA rs60210082 0.02 0.02 0.024 0.0313498 0.001 NA 0.0058 0.115 NA 0.0013 NA 0.0028 0.09 0.0102 0.095 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.120257 NA NA 0.000582 0.095271 NA 0.058 NA 5.988218 1053 10 108412370 108412370 T A intronic SORCS1 NA NA NA intronic ENSG00000108018 NA NA NA NA NA 10q25.1 NA Name=STAT3,NFKB,BCL11A Name=9 NA rs74382777 0.01 0.01 0.004 0.00499201 0.0119 0.001 0.0144 NA 0.002 0.01 0.0017 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552133 NA NA NA NA NA NA NA 5.9881 1053 13 21834975 21834975 G A intergenic MRP63,MIPEPP3 dist=81755;dist=37289 NA NA ncRNA_exonic ENSG00000235438 NA NA NA Score=818;Name=lod=2806 NA 13q12.11 NA NA NA NA NA NA NA NA 0.00459265 0.0119 NA 0.0086 NA 0.0051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154076 NA NA NA NA NA NA NA 5.9881 1053 13 29004064 29004064 C T intronic FLT1 NA NA NA intronic ENSG00000102755 NA NA NA NA NA 13q12.3 NA Name=NFKB,Pol2-4H8,Pol2,TAF1 Name=37 NA rs45496898 0.01 0.01 0.007 0.00399361 0.0119 NA 0.0086 0.0008 0.001 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300411 1.300411 NA NA NA NA NA NA 5.9881 1053 6 32904981 32904981 G A exonic HLA-DMB NA nonsynonymous SNV HLA-DMB:NM_002118:exon3:c.C590T:p.T197I exonic ENSG00000242574 NA nonsynonymous SNV ENSG00000242574:ENST00000438510:exon1:c.C236T:p.T79I,ENSG00000242574:ENST00000416244:exon3:c.C590T:p.T197I,ENSG00000242574:ENST00000418107:exon3:c.C590T:p.T197I NA NA 6p21.32 Score=847;Name=V$GR_Q6 NA NA NA rs1042337 0.76 0.76 0.779 0.784545 0.7883 0.7232 0.732 0.8132 0.8425 0.79 0.68 0.71 0.84 0.7833 0.84 0.22 T 0.0 B 0.001 B 0.428 N 1.000 P . . 4.1 T -0.904 T 0.002 T 0.26 -0.059 3.716 -0.903 -0.185 -0.794 4.607 -0.05861 NA 0.17 0.773837 0.817975 NA 0.79 NA 5.9878964 1053 13 45914835 45914835 C G intronic TPT1 NA NA NA intronic ENSG00000133112 NA NA NA NA NA 13q14.13 NA Name=Ini1,Egr-1,CTCF_(SC-5916),Pol2-4H8,E2F1,HA-E2F1,HSF1,GATA2_(CG2-96),TBP,HEY1,ZBTB7A_(SC-34508),c-Myc,CCNT2,CTCF_(C-20),Pol2,MEF2A,eGFP-JunD,YY1_(C-20),TAF1,ETS1,HMGN3,GABP,CTCF,CEBPB,Rad21,Max,STAT1 Name=148 NA rs2234217 NA NA NA 0.00339457 0.004 NA 0.0014 NA 0.0123 NA NA NA NA 0.0047 0.0035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.650359 1.650359 NA 0.003488 0.000227 NA NA NA 5.987812 1053 8 97605800 97605800 C T exonic SDC2 NA synonymous SNV SDC2:NM_002998:exon2:c.C153T:p.Y51Y exonic ENSG00000169439 NA synonymous SNV ENSG00000169439:ENST00000302190:exon2:c.C153T:p.Y51Y,ENSG00000169439:ENST00000519914:exon2:c.C66T:p.Y22Y,ENSG00000169439:ENST00000521590:exon2:c.C66T:p.Y22Y,ENSG00000169439:ENST00000522911:exon2:c.C66T:p.Y22Y,ENSG00000169439:ENST00000523877:exon2:c.C66T:p.Y22Y Score=374;Name=lod=44 NA 8q22.1 NA NA NA NA rs1126681 0.21 0.21 0.203 0.226038 0.2217 0.3591 0.1628 0.0484 0.3783 0.24 0.31 0.17 0.07 0.2371 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298134 NA NA 0.220233 0.082161 ID=COSM150508;OCCURENCE=1(stomach),1(prostate) 0.123 NA 5.9876336 1053 18 55505862 55505862 C T intergenic ATP8B1,NEDD4L dist=35535;dist=205748 NA NA ncRNA_exonic ENSG00000231544 NA NA NA Score=694;Name=lod=878 NA 18q21.31 NA Name=NFKB NA NA rs576180 0.02 0.02 0.021 0.0305511 0.0129 NA 0.0086 0.1006 0.001 0.01 NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315798 NA NA NA NA NA 0.022 NA 5.9871 1053 22 37603021 37603021 G A exonic SSTR3 NA synonymous SNV SSTR3:NM_001051:exon2:c.C822T:p.Y274Y exonic ENSG00000183473 NA synonymous SNV ENSG00000183473:ENST00000328544:exon2:c.C822T:p.Y274Y,ENSG00000183473:ENST00000402501:exon2:c.C822T:p.Y274Y Score=585;Name=lod=319 NA 22q13.1 NA NA NA NA rs2071710 0.34 0.34 0.342 0.3123 0.2197 0.5863 0.3069 0.2005 0.2802 0.22 0.63 0.3 0.2 0.2577 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742272 NA NA 0.202442 0.184294 NA 0.217 NA 5.9868246 1053 17 73811138 73811138 G A intronic UNK NA NA NA intronic ENSG00000132478 NA NA NA NA NA 17q25.1 NA Name=c-Fos Name=104 NA rs147645780 0.01 0.01 0.005 0.00459265 0.0139 NA 0.0101 NA 0.002 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140096 NA NA NA NA NA 0.022 NA 5.9861 1053 15 43028592 43028592 G A exonic CDAN1 NA synonymous SNV CDAN1:NM_138477:exon2:c.C477T:p.P159P exonic ENSG00000140326 NA synonymous SNV ENSG00000140326:ENST00000356231:exon2:c.C477T:p.P159P NA NA 15q15.2 NA Name=Egr-1 NA NA rs7167392 0.21 0.21 0.234 0.260583 0.2227 0.0546 0.1427 0.4365 0.3579 0.24 0.07 0.15 0.36 0.2472 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.266969 1.266969 NA 0.21139 0.381325 NA 0.196 NA 5.9853766 1053 4 37836302 37836302 T C exonic PGM2 NA synonymous SNV PGM2:NM_018290:exon3:c.T312C:p.S104S exonic ENSG00000169299 NA synonymous SNV ENSG00000169299:ENST00000381967:exon3:c.T312C:p.S104S,ENSG00000169299:ENST00000505986:exon3:c.T312C:p.S104S,ENSG00000169299:ENST00000515668:exon3:c.T312C:p.S104S Score=446;Name=lod=87 NA 4p14 NA NA NA NA rs3752683 0.32 0.32 0.324 0.34385 0.2167 0.2748 0.2781 0.6755 0.1442 0.21 0.24 0.27 0.64 0.2488 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790076 NA NA 0.215814 0.615297 NA 0.413 NA 5.9853526 1053 14 104165411 104165411 G A intronic KLC1,XRCC3 NA NA NA intronic ENSG00000126214,ENSG00000126215 NA NA NA NA NA 14q32.33 NA Name=HA-E2F1,Pol2-4H8,c-Myc,Pol2 Name=22 NA rs17101777 NA NA 0.01 0.00139776 0.006 NA NA NA 0.001 NA NA NA NA NA 0.0088 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545201 NA NA 0.008799 0 NA NA NA 5.985201 1053 11 75507214 75507214 T G intronic DGAT2 NA NA NA intronic ENSG00000062282 NA NA NA NA NA 11q13.5 NA Name=TAF1 Name=7 NA rs41302443 0.0046 0.0046 NA 0.00479233 0.0149 NA 0.0072 0.0008 0.0031 0.01 NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51343 NA NA NA NA NA 0.007 NA 5.9851 1054 15 80473505 80473505 A G intronic FAH NA NA NA intronic ENSG00000103876 NA NA NA Score=524;Name=lod=180 NA 15q25.1 Score=911;Name=V$AREB6_02 NA NA NA rs60585303 0.04 0.04 0.032 0.0459265 NA NA 0.0043 0.1717 NA NA NA 0.01 0.16 0.0146 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.091294 2.091294 NA 0.00093 0.148207 NA 0.058 NA 5.98447 1054 22 50278568 50278568 A G exonic ZBED4 NA nonsynonymous SNV ZBED4:NM_014838:exon2:c.A1258G:p.I420V exonic ENSG00000100426 NA nonsynonymous SNV ENSG00000100426:ENST00000216268:exon2:c.A1258G:p.I420V NA NA 22q13.33 NA NA NA NA rs910799 0.66 0.66 0.604 0.617812 0.8022 0.8264 0.8242 0.1831 0.6544 0.79 0.81 0.81 0.18 0.7499 0.81 0.99 T 0.0 B 0.0 B 0.807 N 1.000 P 0.41 N 0.98 T -0.932 T 0.000 T 0.007 -1.644 0.013 0.478 0.044 1.047 2.017 -1.643533 NA 1 0.797442 0.293236 NA 0.522 NA 5.9837914 1054 19 38853297 38853297 G A intronic CATSPERG NA NA NA UTR3 ENSG00000099338 ENST00000471517:c.*1909G>A NA NA NA NA 19q13.2 NA Name=Egr-1,Sin3Ak-20,Pol2-4H8,ZBTB7A_(SC-34508),E2F6_(H-50),ETS1 Name=145 NA rs2302183 0.16 0.16 0.134 0.159145 0.1829 0.1339 0.2435 0.0658 0.227 0.19 0.15 0.25 0.06 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243339 NA NA NA NA NA 0.116 NA 5.9837667 1054 6 31116246 31116246 G A exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon10:c.C1408T:p.R470W,CCHCR1:NM_001105564:exon10:c.C1516T:p.R506W,CCHCR1:NM_019052:exon10:c.C1249T:p.R417W exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000376266:exon10:c.C1249T:p.R417W,ENSG00000204536:ENST00000396263:exon10:c.C1249T:p.R417W,ENSG00000204536:ENST00000396268:exon10:c.C1516T:p.R506W,ENSG00000204536:ENST00000451521:exon10:c.C1408T:p.R470W NA NA 6p21.33 NA NA NA NA rs130068 0.41 0.41 0.423 0.409944 0.4662 0.2966 0.4308 0.4175 0.4438 0.47 0.3 0.43 0.43 0.4391 0.47 0.15 T 0.007 B 0.005 B 0.250 N 1.000 P 1.05 L 3.64 T -0.928 T 0.004 T 0.205 -0.03 3.862 1.05 0.209 0.281 4.610 -0.029722 NA 0.11 0.444444 0.43415 NA 0.391 NA 5.9835894 1054 17 25853650 25853650 G A intronic KSR1 NA NA NA ncRNA_exonic ENSG00000263368 NA NA NA Score=574;Name=lod=288 NA 17q11.2 NA Name=Max,Mxi1_(bHLH),Sin3Ak-20 NA NA rs2945379 0.42 0.42 0.435 0.473043 0.3499 0.3006 0.4467 0.6566 0.5481 0.35 0.29 0.48 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.560377 2.560377 NA NA NA NA 0.377 NA 5.9834333 1054 12 7945559 7945559 T C exonic NANOG NA synonymous SNV NANOG:NM_024865:exon2:c.T165C:p.P55P exonic ENSG00000111704 NA synonymous SNV ENSG00000111704:ENST00000229307:exon2:c.T165C:p.P55P,ENSG00000111704:ENST00000526286:exon2:c.T165C:p.P55P,ENSG00000111704:ENST00000541267:exon4:c.T93C:p.P31P Score=309;Name=lod=24 NA 12p13.31 Score=764;Name=V$PAX5_01 NA NA NA rs4294629 0.38 0.38 0.358 0.379593 0.5915 0.0536 0.5259 0.3313 0.4591 0.58 0.05 0.51 0.35 0.5126 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732259 NA NA 0.579186 0.362914 NA 0.449 NA 5.9833806 1054 3 121361787 121361787 G A exonic HCLS1 NA synonymous SNV HCLS1:NM_005335:exon6:c.C441T:p.H147H exonic ENSG00000180353 NA synonymous SNV ENSG00000180353:ENST00000314583:exon6:c.C441T:p.H147H,ENSG00000180353:ENST00000428394:exon6:c.C441T:p.H147H NA NA 3q13.33 Score=894;Name=V$OCT1_06 NA NA NA rs2070178 0.22 0.22 0.231 0.23103 0.2197 0.2768 0.1744 0.1838 0.2996 0.22 0.3 0.18 0.16 0.2358 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237774 NA NA 0.227791 0.209714 NA 0.21 NA 5.9833756 1054 3 46005767 46005767 C T intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA Name=NFKB,BATF,PU.1,IRF4_(M-17) Name=7 NA rs140590198 0.01 0.01 0.009 0.00479233 0.0169 NA 0.0058 0.0008 0.002 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.844778 1.844778 NA NA NA NA NA NA 5.9831 1054 11 68660962 68660962 T C intronic MRPL21 NA NA NA intronic ENSG00000197345 NA NA NA NA NA 11q13.3 NA Name=BCL3 Name=7 NA rs118025268 0.0041 0.0041 0.004 0.00199681 0.007 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630876 NA NA 0.006521 0.001364 NA NA NA 5.983079 1054 11 403980 403980 G A exonic PKP3 NA synonymous SNV PKP3:NM_007183:exon11:c.G2115A:p.P705P exonic ENSG00000184363 NA synonymous SNV ENSG00000184363:ENST00000331563:exon11:c.G2115A:p.P705P Score=522;Name=lod=177 NA 11p15.5 Score=798;Name=V$AHR_01 NA NA NA rs11748 0.49 0.49 0.483 0.510982 0.5606 0.3651 0.6066 0.5212 0.5286 0.55 0.36 0.58 0.5 0.5612 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545886 NA NA 0.56215 0.533333 NA 0.514 NA 5.9827166 1054 3 53891029 53891029 G A intronic IL17RB NA NA NA intronic ENSG00000056736 NA NA NA NA NA 3p21.1 NA Name=EBF Name=3 NA rs191459061 0.0037 0.0037 NA 0.00199681 0.0099 NA NA NA NA 0.01 NA NA NA 0.005 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216058 NA NA 0.002674 0.000227 NA NA NA 5.982426 1054 17 80992932 80992932 A C exonic B3GNTL1 NA synonymous SNV B3GNTL1:NM_001009905:exon4:c.T321G:p.S107S exonic ENSG00000175711 NA synonymous SNV ENSG00000175711:ENST00000320865:exon4:c.T321G:p.S107S Score=471;Name=lod=109 NA 17q25.3 NA NA NA NA rs16940609 0.19 0.19 0.18 0.174521 0.2286 0.2093 0.17 0.1301 0.1462 0.23 0.22 0.18 0.12 0.2042 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649658 NA NA 0.251628 0.138221 NA 0.246 NA 5.9822386 1054 2 151343393 151343393 C A intronic RND3 NA NA NA intronic ENSG00000115963 NA NA NA NA NA 2q23.3 NA Name=ZNF263,Pol2,Pol2(b) Name=81 NA rs115410735 0.01 0.01 0.01 0.00638978 0.0179 NA 0.0159 0.0015 0.001 0.01 NA 0.01 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996053 NA NA NA NA NA NA NA 5.9821 1054 5 172560793 172560793 C T UTR3 CREBRF NM_153607:c.*45C>T NA NA UTR3 ENSG00000164463 ENST00000540014:c.*45C>T,ENST00000296953:c.*45C>T NA NA Score=670;Name=lod=704 NA 5q35.1 Score=857;Name=V$SREBP1_01 NA NA NA rs35387209 0.07 0.07 0.068 0.0708866 0.1173 0.0069 0.0706 0.028 0.1472 0.12 0.01 0.09 0.04 0.1114 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26424 NA NA 0.122587 0.052429 NA 0.094 NA 5.9820464 1054 7 128358891 128358891 C A exonic FAM71F1 NA synonymous SNV FAM71F1:NM_032599:exon3:c.C441A:p.L147L exonic ENSG00000135248 NA synonymous SNV ENSG00000135248:ENST00000466842:exon1:c.C9A:p.L3L,ENSG00000135248:ENST00000315184:exon3:c.C441A:p.L147L,ENSG00000135248:ENST00000471558:exon3:c.C441A:p.L147L Score=363;Name=lod=40 NA 7q32.1 NA NA NA NA rs745229 0.19 0.19 0.196 0.201278 0.2366 0.1042 0.1571 0.2209 0.2699 0.24 0.12 0.14 0.21 0.2172 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082778 NA NA 0.231279 0.199047 NA 0.174 NA 5.9815876 1054 12 129360498 129360498 G A exonic GLT1D1 NA synonymous SNV GLT1D1:NM_144669:exon2:c.G108A:p.K36K exonic ENSG00000151948 NA synonymous SNV ENSG00000151948:ENST00000281703:exon2:c.G108A:p.K36K,ENSG00000151948:ENST00000413816:exon2:c.G87A:p.K29K,ENSG00000151948:ENST00000441390:exon2:c.G108A:p.K36K,ENSG00000151948:ENST00000442111:exon2:c.G108A:p.K36K,ENSG00000151948:ENST00000537468:exon2:c.G75A:p.K25K,ENSG00000151948:ENST00000539044:exon2:c.G108A:p.K36K Score=395;Name=lod=54 NA 12q24.33 NA NA NA NA rs482401 0.3 0.3 0.297 0.340256 0.2256 0.2361 0.304 0.4803 0.4018 0.24 0.24 0.28 0.47 0.2623 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.205599 NA NA 0.197558 0.435996 NA 0.384 NA 5.9812086 1054 6 35209225 35209225 T A intronic SCUBE3 NA NA NA intronic ENSG00000146197 NA NA NA NA NA 6p21.31 NA Name=CTCF Name=128 NA rs3800382 0.11 0.11 0.109 0.113618 0.0189 0.3274 0.0965 0.0424 0.0992 0.03 0.31 0.08 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124451 NA NA NA NA NA 0.051 NA 5.9811 1054 19 3005425 3005425 C T intronic TLE2 NA NA NA intronic ENSG00000065717 NA NA NA NA NA 19p13.3 NA Name=GATA-2 Name=5 NA rs144033921 0.0032 0.0032 0.002 0.00279553 0.004 0.002 0.0101 0.0008 NA 0.0026 0.0035 0.01 NA 0.0059 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175997 NA NA 0.009174 0.001174 NA 0.007 NA 5.980926 1054 6 109762236 109762236 G A UTR5 PPIL6,SMPD2 NM_001111298:c.-443C>T,NM_173672:c.-443C>T;NM_003080:c.-89G>A NA NA UTR5 ENSG00000135587,ENSG00000185250 ENST00000258052:c.-89G>A;ENST00000521072:c.-443C>T,ENST00000424445:c.-443C>T,ENST00000440797:c.-443C>T NA NA NA NA 6q21 NA Name=HA-E2F1,Pol2 Name=146 NA rs1048203 0.33 0.33 0.291 0.3127 0.3529 0.3502 0.3156 0.1936 0.3916 0.35 0.42 0.31 0.2 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.288853 1.288853 NA NA NA NA 0.246 NA 5.9804334 1054 3 167402236 167402236 T C intronic PDCD10 NA NA NA intronic ENSG00000114209 NA NA NA NA NA 3q26.1 Score=965;Name=V$TBP_01 Name=CTCF NA NA rs78782877 0.01 0.01 0.011 0.00678914 0.0199 NA 0.0101 0.0038 0.002 0.02 NA 0.01 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771042 NA NA NA NA NA 0.007 NA 5.9801 1054 15 22789093 22789093 G A intergenic GOLGA6L1,TUBGCP5 dist=43091;dist=44302 NA NA ncRNA_exonic ENSG00000259400 NA NA NA Score=534;Name=lod=198 NA 15q11.2 Score=915;Name=V$ZIC1_01 NA NA NA rs117190602 0.01 0.01 0.013 0.00399361 0.0199 NA NA NA NA 0.02 NA NA NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990082 NA NA NA NA NA 0.007 NA 5.9801 1054 16 5112317 5112317 G A intronic C16orf89 NA NA NA intronic ENSG00000033011,ENSG00000153446 NA NA NA NA NA 16p13.3 NA Name=EBF,TCF12,PAX5-C20,SP1,MEF2A,EBF1_(C-8) Name=6 NA rs116852727 0.01 0.01 0.01 0.0071885 0.0199 NA 0.0101 0.0008 0.0082 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004274 NA NA NA NA NA NA NA 5.9801 1054 17 25410373 25410373 A T intergenic NONE,MIR4522 dist=NONE;dist=210563 NA NA ncRNA_exonic ENSG00000265646 NA NA NA Score=808;Name=lod=2553 NA 17q11.1 NA Name=TAF1,HEY1 NA NA rs142548583 0.01 0.01 0.008 0.0123802 0.0209 NA 0.0173 NA 0.0297 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503782 NA NA NA NA NA 0.007 NA 5.9791 1054 12 106500160 106500160 T A intronic NUAK1 NA NA NA intronic ENSG00000074590 NA NA NA NA NA 12q23.3 NA Name=p300_(N-15),JunD,STAT3,c-Jun,Max,Rad21,p300,CEBPB Name=43 NA rs2374587 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0212 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033676 NA NA NA NA NA 0.138 NA 5.9788 1054 16 56870474 56870474 G A intronic NUP93 NA NA NA intronic ENSG00000102900 NA NA NA NA NA 16q13 NA Name=CEBPB Name=28 NA rs112276608 0.0027 0.0027 0.002 0.00419329 0.005 NA 0.0014 0.0023 0.0123 0.01 NA 0.0028 0.002 0.007 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.163258 NA NA 0.009419 0.002957 NA 0.007 NA 5.978581 1054 4 74735734 74735734 C T intronic CXCL1 NA NA NA intronic ENSG00000163739 NA NA NA NA NA 4q13.3 NA Name=Pol2 Name=3 NA rs2018732 0.05 0.05 0.059 0.0642971 NA NA 0.0231 0.2315 NA NA NA 0.02 0.22 0.0198 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769395 NA NA 0.001628 0.196762 NA 0.087 NA 5.978572 1054 4 74736235 74736235 C T intronic CXCL1 NA NA NA intronic ENSG00000163739 NA NA NA NA NA 4q13.3 NA Name=STAT3,Pol2,CEBPB Name=59 NA rs1814092 0.05 0.05 0.062 0.0648962 NA NA 0.0231 0.2337 NA NA NA 0.02 0.22 0.0198 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390355 NA NA 0.001628 0.205629 NA 0.08 NA 5.978572 1054 19 3162909 3162909 C T exonic GNA15 NA synonymous SNV GNA15:NM_002068:exon7:c.C1017T:p.L339L exonic ENSG00000060558 NA synonymous SNV ENSG00000060558:ENST00000262958:exon7:c.C1017T:p.L339L Score=624;Name=lod=456 NA 19p13.3 NA NA NA NA rs1637656 0.17 0.17 0.151 0.146166 0.2376 0.0278 0.2118 0.1604 0.1084 0.23 0.03 0.23 0.17 0.2021 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.251681 1.251681 NA 0.248837 0.165683 NA 0.196 NA 5.9781296 1054 1 22336308 22336308 G A exonic CELA3A NA synonymous SNV CELA3A:NM_005747:exon7:c.G753A:p.T251T exonic ENSG00000142789 NA synonymous SNV ENSG00000142789:ENST00000400271:exon2:c.G177A:p.T59T,ENSG00000142789:ENST00000290122:exon7:c.G753A:p.T251T NA NA 1p36.12 Score=840;Name=V$GR_Q6 NA NA NA rs12908 0.3 0.3 0.243 0.285543 0.2207 0.3998 0.4078 0.2307 0.2219 0.24 0.37 0.38 0.25 0.2425 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.305205 NA NA 0.225465 0.258738 NA 0.246 NA 5.9780016 1054 19 23545250 23545250 A G exonic ZNF91 NA synonymous SNV ZNF91:NM_003430:exon4:c.T531C:p.T177T exonic ENSG00000167232 NA synonymous SNV ENSG00000167232:ENST00000595533:exon2:c.T234C:p.T78T,ENSG00000167232:ENST00000397082:exon3:c.T435C:p.T145T,ENSG00000167232:ENST00000300619:exon4:c.T531C:p.T177T Score=295;Name=lod=21 NA 19p12 NA NA Name=6 NA rs1044095 0.39 0.39 0.342 0.381589 0.5964 0.1558 0.4841 0.2693 0.4724 0.6 0.17 0.49 0.24 0.5125 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310923 NA NA 0.580156 0.294796 ID=COSM1392225,COSM1392224;OCCURENCE=1(large_intestine) 0.449 NA 5.9776106 1054 19 31770009 31770009 C T exonic TSHZ3 NA synonymous SNV TSHZ3:NM_020856:exon2:c.G690A:p.T230T exonic ENSG00000121297 NA synonymous SNV ENSG00000121297:ENST00000240587:exon2:c.G690A:p.T230T NA NA 19q12 NA NA NA Score=73;Name=1138215.3_0_+_73 rs28609894 0.27 0.27 0.276 0.314696 0.2187 0.2331 0.2651 0.4304 0.3763 0.21 0.22 0.29 0.39 0.2503 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184688 NA NA 0.220116 0.406945 NA 0.435 NA 5.9775506 1054 17 48761105 48761105 C T exonic ABCC3 NA synonymous SNV ABCC3:NM_003786:exon27:c.C3942T:p.H1314H exonic ENSG00000108846 NA synonymous SNV ENSG00000108846:ENST00000285238:exon27:c.C3942T:p.H1314H NA NA 17q21.33 NA Name=Pol2 NA NA rs2277624 0.26 0.26 0.244 0.286941 0.2227 0.2411 0.268 0.4032 0.2566 0.21 0.21 0.27 0.39 0.2478 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.983882 NA NA 0.218837 0.354063 NA 0.304 NA 5.9773296 1054 3 10157368 10157368 C T UTR5 BRK1 NM_018462:c.-18C>T NA NA UTR5 ENSG00000254999 ENST00000530758:c.-18C>T NA NA NA NA 3p25.3 NA Name=HEY1,NFKB,CCNT2,NF-YB,GTF2B,Nrf1,IRF1,GTF2F1_(RAP-74),TBP,NF-YA,TAF1,HMGN3,E2F4,NANOG_(SC-33759),YY1,TCF4,RFX5_(N-494),SP1,Pol2,c-Fos,Pol2-4H8,c-Jun,YY1_(C-20),HA-E2F1,BRCA1_(C-1863) Name=148 NA rs7645759 0.15 0.15 0.135 0.167133 0.0994 0.0248 0.1513 0.3419 0.1585 0.11 0.03 0.15 0.35 0.1357 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935262 NA NA 0.120942 0.27381 NA 0.297 NA 5.9772914 1054 21 35134148 35134148 C T intronic ITSN1 NA NA NA intronic ENSG00000205726,ENSG00000249209 NA NA NA NA NA 21q22.11 NA Name=MafK_(SC-477),MafF_(M8194),PU.1,eGFP-JunD,ELF1_(SC-631),Max,GR,FOSL1_(SC-183),p300,CEBPB,eGFP-JunB,JunD,FOXA1_(C-20),STAT3,RFX5_(N-494),KAP1,c-Fos,GATA-2,c-Jun,AP-2gamma,eGFP-FOS,MafK_(ab50322),p300_(N-15),NF-E2 Name=136 NA rs77400511 0.01 0.01 0.013 0.00658946 0.0229 NA 0.0101 0.0015 0.001 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303096 NA NA NA NA NA NA NA 5.9771 1054 14 65203523 65203523 C T intronic PLEKHG3 NA NA NA intronic ENSG00000126822 NA NA NA NA NA 14q23.3 NA Name=HNF4A_(H-171),HNF4G_(SC-6558),HNF4A Name=11 NA rs148592933 0.0041 0.0041 0.002 0.00339457 0.0099 0.001 0.0058 0.0008 0.001 0.01 0.0017 0.0028 0.002 0.0043 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434321 NA NA 0.008721 0.002043 NA NA NA 5.977079 1054 11 6632450 6632450 C T exonic TAF10 NA synonymous SNV TAF10:NM_006284:exon4:c.G537A:p.T179T exonic ENSG00000166337 NA synonymous SNV ENSG00000166337:ENST00000299424:exon4:c.G537A:p.T179T Score=682;Name=lod=791 NA 11p15.4 NA NA NA NA rs12451 0.17 0.17 0.157 0.141374 0.2406 0.0833 0.1974 0.0825 0.1391 0.25 0.1 0.2 0.09 0.21 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247636 NA NA 0.23906 0.125625 NA 0.174 NA 5.9770066 1054 8 1817367 1817367 G A exonic ARHGEF10 NA synonymous SNV ARHGEF10:NM_014629:exon7:c.G630A:p.E210E exonic ENSG00000104728 NA synonymous SNV ENSG00000104728:ENST00000262112:exon7:c.G705A:p.E235E,ENSG00000104728:ENST00000349830:exon7:c.G630A:p.E210E,ENSG00000104728:ENST00000398564:exon7:c.G705A:p.E235E,ENSG00000104728:ENST00000520359:exon7:c.G633A:p.E211E,ENSG00000104728:ENST00000398560:exon8:c.G705A:p.E235E,ENSG00000104728:ENST00000518288:exon8:c.G705A:p.E235E Score=599;Name=lod=364 NA 8p23.3 NA NA NA NA rs7003969 0.27 0.27 0.262 0.235823 0.2157 0.5179 0.2061 0.0983 0.1728 0.23 0.52 0.2 0.11 0.2382 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03538 NA 0 0.236395 0.115524 NA 0.203 NA 5.9763716 1054 16 2806619 2806619 C T intronic SRRM2 NA NA NA intronic ENSG00000167978 NA NA NA Score=763;Name=lod=1688 NA 16p13.3 NA NA Name=5 NA rs117160431 0.0037 0.0037 0.003 0.00299521 0.0099 NA 0.0029 NA 0.0031 0.01 NA NA NA 0.0052 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313012 1.313012 NA 0.008605 0.002049 NA NA NA 5.976295 1054 8 163226 163226 T C ncRNA_exonic RPL23AP53 NA NA NA ncRNA_exonic ENSG00000223508 NA NA NA Score=713;Name=lod=1055 NA 8p23.3 NA Name=CEBPB NA NA rs3008288 0.65 0.65 0.593 0.655152 0.6909 0.8006 0.7349 0.4342 0.7106 0.66 0.77 0.7 0.45 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748238 NA NA NA NA NA 0.399 NA 5.9757666 1055 9 71862975 71862975 C T exonic TJP2 NA synonymous SNV TJP2:NM_001170415:exon19:c.C2727T:p.T909T,TJP2:NM_001170416:exon19:c.C2808T:p.T936T,TJP2:NM_001170630:exon19:c.C2715T:p.T905T,TJP2:NM_004817:exon19:c.C2715T:p.T905T,TJP2:NM_201629:exon19:c.C2715T:p.T905T,TJP2:NM_001170414:exon20:c.C2646T:p.T882T exonic ENSG00000119139 NA synonymous SNV ENSG00000119139:ENST00000265384:exon19:c.C2715T:p.T905T,ENSG00000119139:ENST00000348208:exon19:c.C2715T:p.T905T,ENSG00000119139:ENST00000377245:exon19:c.C2715T:p.T905T,ENSG00000119139:ENST00000535702:exon19:c.C2727T:p.T909T,ENSG00000119139:ENST00000539225:exon19:c.C2808T:p.T936T,ENSG00000119139:ENST00000453658:exon20:c.C2646T:p.T882T NA NA 9q21.11 NA NA NA NA rs2282336 0.29 0.29 0.252 0.284145 0.2197 0.4514 0.451 0.1664 0.2188 0.22 0.44 0.42 0.13 0.2614 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229967 NA NA 0.211047 0.17113 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037081.1;CLNDSDB=.;CLNDSDBID=. 5.9745196 1055 12 33535289 33535289 G A exonic SYT10 NA synonymous SNV SYT10:NM_198992:exon5:c.C1365T:p.Y455Y exonic ENSG00000110975 NA synonymous SNV ENSG00000110975:ENST00000228567:exon5:c.C1365T:p.Y455Y,ENSG00000110975:ENST00000535526:exon7:c.C822T:p.Y274Y NA NA 12p11.1 Score=916;Name=V$TCF11_01 NA NA NA rs10844571 0.19 0.19 0.17 0.198882 0.2296 0.0655 0.2839 0.1619 0.2945 0.23 0.07 0.28 0.18 0.2331 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280948 NA NA 0.229651 0.172265 NA 0.167 NA 5.9743156 1055 4 185687863 185687863 A G exonic ACSL1 NA synonymous SNV ACSL1:NM_001995:exon13:c.T1176C:p.F392F exonic ENSG00000151726 NA synonymous SNV ENSG00000151726:ENST00000454703:exon12:c.T663C:p.F221F,ENSG00000151726:ENST00000507295:exon12:c.T1074C:p.F358F,ENSG00000151726:ENST00000281455:exon13:c.T1176C:p.F392F,ENSG00000151726:ENST00000504342:exon13:c.T1176C:p.F392F,ENSG00000151726:ENST00000513317:exon13:c.T1176C:p.F392F,ENSG00000151726:ENST00000515030:exon13:c.T1176C:p.F392F,ENSG00000151726:ENST00000437665:exon14:c.T663C:p.F221F Score=542;Name=lod=212 NA 4q35.1 NA NA NA NA rs11727009 0.23 0.23 0.206 0.214856 0.2366 0.2153 0.2277 0.2073 0.1933 0.25 0.24 0.22 0.2 0.2212 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.285246 1.285246 NA 0.234651 0.223559 NA 0.196 NA 5.9742156 1055 4 85414812 85414812 G A intronic NKX6-1 NA NA NA intronic ENSG00000163623 NA NA NA NA NA 4q21.23 NA Name=Sin3Ak-20 Name=11 NA rs145722648 0.01 0.01 0.012 0.00878594 0.0258 NA 0.0072 0.0008 0.0123 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69554 NA NA NA NA NA 0.007 NA 5.9742 1055 19 313704 313704 G A intronic MIER2 NA NA NA intronic ENSG00000105556 NA NA NA NA NA 19p13.3 NA Name=ZNF263 Name=14 NA rs78169328 0.03 0.03 0.032 0.0401358 0.0258 NA 0.0115 0.1051 0.0286 0.03 NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042854 NA NA NA NA NA 0.014 NA 5.9742 1055 15 49620200 49620200 C T exonic GALK2 NA synonymous SNV GALK2:NM_001001556:exon10:c.C1188T:p.C396C,GALK2:NM_002044:exon10:c.C1221T:p.C407C exonic ENSG00000156958 NA synonymous SNV ENSG00000156958:ENST00000559580:exon3:c.C321T:p.C107C,ENSG00000156958:ENST00000327171:exon10:c.C1188T:p.C396C,ENSG00000156958:ENST00000396509:exon10:c.C1149T:p.C383C,ENSG00000156958:ENST00000559454:exon10:c.C1149T:p.C383C,ENSG00000156958:ENST00000560031:exon10:c.C1221T:p.C407C,ENSG00000156958:ENST00000544523:exon11:c.C1149T:p.C383C Score=577;Name=lod=296 NA 15q21.2 NA NA NA NA rs1055254 0.2 0.2 0.189 0.202077 0.2575 0.0466 0.1873 0.2428 0.2607 0.25 0.06 0.2 0.27 0.2133 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003603 NA NA 0.221769 0.248179 NA 0.174 NA 5.9740976 1055 17 43183028 43183028 G A UTR3 NMT1 NM_021079:c.*21G>A NA NA UTR3 ENSG00000136448 ENST00000592782:c.*21G>A,ENST00000258960:c.*21G>A NA NA Score=582;Name=lod=308 NA 17q21.31 Score=936;Name=V$GATA_C Name=Pol2(b) NA NA rs1053733 0.52 0.52 0.488 0.50599 0.4712 0.7946 0.4755 0.3321 0.501 0.47 0.8 0.48 0.3 0.4574 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.364613 4.364613 NA 0.430814 0.342261 NA 0.464 NA 5.9739194 1055 1 11181327 11181327 C T exonic MTOR NA synonymous SNV MTOR:NM_004958:exon49:c.G6909A:p.L2303L exonic ENSG00000198793 NA synonymous SNV ENSG00000198793:ENST00000376838:exon11:c.G1524A:p.L508L,ENSG00000198793:ENST00000361445:exon49:c.G6909A:p.L2303L Score=584;Name=lod=316 NA 1p36.22 NA NA NA NA rs11121691 0.23 0.23 0.259 0.220647 0.2356 0.0565 0.1542 0.4365 0.1299 0.23 0.06 0.16 0.46 0.2184 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.220803 NA NA 0.238837 0.425556 NA 0.225 NA 5.9738296 1055 6 158330765 158330765 G A exonic SNX9 NA synonymous SNV SNX9:NM_016224:exon8:c.G774A:p.R258R exonic ENSG00000130340 NA synonymous SNV ENSG00000130340:ENST00000392185:exon8:c.G774A:p.R258R Score=610;Name=lod=402 NA 6q25.3 NA NA NA NA rs3211067 0.2 0.2 0.205 0.205272 0.2485 0.1369 0.1383 0.2239 0.2536 0.25 0.13 0.16 0.24 0.2095 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411457 1.411457 NA 0.234884 0.219246 NA 0.123 NA 5.9737826 1055 1 53163860 53163860 G T intronic SELRC1 NA NA NA intronic ENSG00000162377 NA NA NA NA NA 1p32.3 NA Name=Pol2,Mxi1_(bHLH),YY1,YY1_(C-20),Sin3Ak-20,TAF7_(SQ-8),E2F6,Pol2-4H8,TAF1,E2F6_(H-50),USF2,USF-1,TBP,Max,c-Myc,ELF1_(SC-631),HEY1,SETDB1 Name=148 NA rs138892493 0.01 0.01 0.006 0.00958466 0.0099 NA 0.0231 0.0151 0.002 0.01 NA 0.04 0.01 0.0082 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.573608 1.573608 NA 0.008956 0.011348 NA 0.029 NA 5.972944 1055 2 234975808 234975808 T A intronic SPP2 NA NA NA intronic ENSG00000072080 NA NA NA NA NA 2q37.1 NA Name=MafK_(ab50322) Name=10 NA rs41270757 0.01 0.01 0.002 0.00399361 0.0129 NA 0.0101 NA NA 0.01 NA 0.01 NA NA 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542216 NA NA 0.014771 0.002168 NA NA NA 5.972329 1055 7 100875772 100875772 T G exonic CLDN15 NA synonymous SNV CLDN15:NM_014343:exon5:c.A606C:p.P202P,CLDN15:NM_001185080:exon6:c.A606C:p.P202P exonic ENSG00000106404 NA synonymous SNV ENSG00000106404:ENST00000414035:exon4:c.A441C:p.P147P,ENSG00000106404:ENST00000308344:exon5:c.A606C:p.P202P,ENSG00000106404:ENST00000401528:exon6:c.A606C:p.P202P NA NA 7q22.1 NA Name=Pol2 NA NA rs1047319 0.21 0.21 0.202 0.22504 0.2435 0.1677 0.2061 0.1846 0.3333 0.23 0.16 0.23 0.19 0.2241 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.650099 NA NA 0.226797 0.190054 ID=COSM329253;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.304 NA 5.9722696 1055 2 1647171 1647171 T C exonic PXDN NA synonymous SNV PXDN:NM_012293:exon19:c.A3921G:p.V1307V exonic ENSG00000130508 NA synonymous SNV ENSG00000130508:ENST00000252804:exon19:c.A3921G:p.V1307V Score=552;Name=lod=234 NA 2p25.3 Score=682;Name=V$P53_01 Name=CTCF NA NA rs6730800 0.91 0.91 0.901 0.907748 0.8926 0.999 0.9568 0.7723 0.9775 0.9 1 0.95 0.79 0.9088 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266626 NA NA 0.893001 0.804451 NA 0.804 NA 5.9722656 1055 14 22971265 22971265 C G intergenic OR4E2,DAD1 dist=837027;dist=62542 NA NA exonic ENSG00000211851 NA unknown UNKNOWN Score=508;Name=lod=155 NA 14q11.2 NA NA Name=9 NA rs17118924 0.05 0.05 0.042 0.0477236 0.0557 0.002 0.062 0.0726 0.0429 0.06 NA 0.07 0.07 0.0604 0.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.52899 1.52899 NA 0.078398 0.0625 NA 0.036 NA 5.9721687 1055 19 9492141 9492141 C T exonic ZNF177,ZNF559-ZNF177 NA synonymous SNV ZNF177:NM_001172651:exon6:c.C1134T:p.I378I,ZNF177:NM_003451:exon9:c.C654T:p.I218I,ZNF559-ZNF177:NM_001172650:exon12:c.C654T:p.I218I exonic ENSG00000188629,ENSG00000270011 NA synonymous SNV ENSG00000188629:ENST00000434737:exon5:c.C1134T:p.I378I,ENSG00000188629:ENST00000589262:exon6:c.C1134T:p.I378I,ENSG00000188629:ENST00000343499:exon9:c.C654T:p.I218I,ENSG00000270011:ENST00000541595:exon12:c.C654T:p.I218I,ENSG00000188629:ENST00000602738:exon12:c.C654T:p.I218I NA NA 19p13.2 NA Name=KAP1,ZNF274,SETDB1 Name=6 NA rs3826783 0.53 0.53 0.537 0.54393 0.5606 0.4504 0.5375 0.5908 0.5644 0.55 0.42 0.57 0.6 0.5513 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459017 NA NA 0.582674 0.604176 NA 0.659 NA 5.9720926 1055 17 7453505 7453505 C A exonic TNFSF12,TNFSF12-TNFSF13 NA synonymous SNV TNFSF12:NM_003809:exon3:c.C276A:p.R92R,TNFSF12-TNFSF13:NM_172089:exon3:c.C276A:p.R92R exonic ENSG00000239697,ENSG00000248871 NA synonymous SNV ENSG00000239697:ENST00000293825:exon3:c.C276A:p.R92R,ENSG00000248871:ENST00000293826:exon3:c.C276A:p.R92R,ENSG00000239697:ENST00000322272:exon3:c.C276A:p.R92R,ENSG00000239697:ENST00000557233:exon3:c.C276A:p.R92R Score=395;Name=lod=54 NA 17p13.1 NA NA NA NA rs62059804 0.15 0.15 0.135 0.122204 0.2535 0.001 0.1628 0.1203 0.0859 0.25 0.0017 0.2 0.15 0.1896 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.424705 1.424705 NA 0.251512 0.149115 NA 0.101 NA 5.9720546 1055 7 100486656 100486656 T G exonic UFSP1 NA synonymous SNV UFSP1:NM_001015072:exon1:c.A237C:p.V79V exonic ENSG00000176125 NA synonymous SNV ENSG00000176125:ENST00000388761:exon1:c.A237C:p.V79V NA NA 7q22.1 NA Name=Pol2-4H8,Pol2(b) Name=29 NA rs13241786 0.66 0.66 0.65 0.651757 0.5427 0.8175 0.6873 0.6135 0.6196 0.54 0.82 0.65 0.67 0.6065 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816655 NA NA 0.54686 0.607127 ID=COSM150343;OCCURENCE=1(stomach),1(large_intestine) 0.659 NA 5.9706066 1055 15 78398146 78398146 G A exonic CIB2 NA synonymous SNV CIB2:NM_001271889:exon3:c.C330T:p.D110D,CIB2:NM_001271888:exon4:c.C348T:p.D116D,CIB2:NM_006383:exon5:c.C477T:p.D159D exonic ENSG00000136425 NA synonymous SNV ENSG00000136425:ENST00000557846:exon3:c.C330T:p.D110D,ENSG00000136425:ENST00000539011:exon4:c.C348T:p.D116D,ENSG00000136425:ENST00000560618:exon4:c.C348T:p.D116D,ENSG00000136425:ENST00000258930:exon5:c.C477T:p.D159D NA NA 15q25.1 Score=781;Name=V$PPARG_03 NA NA NA rs10456 0.14 0.14 0.141 0.127596 0.2495 0.0228 0.1556 0.0696 0.1687 0.26 0.02 0.2 0.06 0.2029 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.191522 NA NA 0.244002 0.078097 NA 0.152 NA 5.9702646 1055 20 259969 259969 G C exonic C20orf96 NA synonymous SNV C20orf96:NM_080571:exon5:c.C306G:p.T102T,C20orf96:NM_153269:exon5:c.C309G:p.T103T exonic ENSG00000196476 NA synonymous SNV ENSG00000196476:ENST00000382369:exon3:c.C204G:p.T68T,ENSG00000196476:ENST00000400269:exon3:c.C135G:p.T45T,ENSG00000196476:ENST00000360321:exon5:c.C309G:p.T103T NA NA 20p13 NA Name=CTCF Name=49 NA rs7271033 0.68 0.68 0.662 0.66853 0.5606 0.7897 0.4914 0.8442 0.5429 0.58 0.79 0.5 0.85 0.5762 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826938 NA NA 0.56 0.787335 NA 0.007 NA 5.9698666 1055 1 161168004 161168004 C T exonic ADAMTS4 NA synonymous SNV ADAMTS4:NM_005099:exon1:c.G414A:p.S138S exonic ENSG00000158859 NA synonymous SNV ENSG00000158859:ENST00000367995:exon1:c.G414A:p.S138S,ENSG00000158859:ENST00000367996:exon1:c.G414A:p.S138S Score=472;Name=lod=111 NA 1q23.3 NA NA NA NA rs33941127 0.34 0.34 0.347 0.365016 0.2087 0.4494 0.3141 0.4145 0.408 0.21 0.47 0.29 0.43 0.2819 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124133 NA NA 0.206512 0.360191 NA 0.348 NA 5.9695546 1055 13 36686138 36686138 T C exonic DCLK1 NA synonymous SNV DCLK1:NM_004734:exon3:c.A591G:p.P197P exonic ENSG00000133083 NA synonymous SNV ENSG00000133083:ENST00000255448:exon3:c.A591G:p.P197P,ENSG00000133083:ENST00000360631:exon3:c.A591G:p.P197P,ENSG00000133083:ENST00000379892:exon3:c.A591G:p.P197P NA NA 13q13.3 Score=813;Name=V$MEIS1AHOXA9_01 NA NA NA rs3748308 0.22 0.22 0.22 0.221046 0.2137 0.1548 0.219 0.2436 0.2679 0.21 0.16 0.28 0.24 0.2332 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.348508 1.348508 NA 0.250233 0.260554 NA 0.29 NA 5.9695336 1055 14 38064215 38064215 G C UTR5 FOXA1 NM_004496:c.-38C>G NA NA UTR5 ENSG00000129514 ENST00000250448:c.-38C>G,ENST00000553751:c.-38C>G NA NA Score=340;Name=lod=32 NA 14q21.1 NA Name=c-Myc,SUZ12,TBP,Pol2,CHD2_(N-1250) Name=77 NA rs79519281 0.45 0.45 0.422 0.384585 0.4543 0.506 0.5043 0.2247 0.319 0.45 0.6 0.47 0.25 0.4452 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873487 NA NA 0.464535 0.281434 NA NA NA 5.9692984 1055 19 35790503 35790503 G A exonic MAG NA synonymous SNV MAG:NM_001199216:exon5:c.G387A:p.E129E,MAG:NM_002361:exon5:c.G462A:p.E154E,MAG:NM_080600:exon5:c.G462A:p.E154E exonic ENSG00000105695 NA synonymous SNV ENSG00000105695:ENST00000600291:exon4:c.G387A:p.E129E,ENSG00000105695:ENST00000361922:exon5:c.G462A:p.E154E,ENSG00000105695:ENST00000392213:exon5:c.G462A:p.E154E,ENSG00000105695:ENST00000537831:exon5:c.G387A:p.E129E,ENSG00000105695:ENST00000595791:exon5:c.G462A:p.E154E NA NA 19q13.12 Score=869;Name=V$RORA1_01 NA NA NA rs3746248 0.38 0.38 0.359 0.401358 0.2068 0.3512 0.2435 0.7617 0.2781 0.21 0.38 0.26 0.72 0.2765 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416614 NA NA 0.21407 0.66591 NA 0.435 NA 5.9692966 1055 2 101646144 101646144 G A exonic TBC1D8 NA synonymous SNV TBC1D8:NM_001102426:exon12:c.C1986T:p.S662S exonic ENSG00000204634 NA synonymous SNV ENSG00000204634:ENST00000376840:exon12:c.C1986T:p.S662S,ENSG00000204634:ENST00000409318:exon12:c.C2031T:p.S677S NA NA 2q11.2 NA Name=Pol2 NA NA rs3739015 0.21 0.21 0.213 0.161941 0.2714 0.1518 0.1916 0.0961 0.1278 0.27 0.21 0.22 0.11 0.2015 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.510344 NA NA 0.224504 0.117087 NA 0.254 NA 5.9692626 1055 11 102567207 102567207 T A exonic MMP27 NA nonsynonymous SNV MMP27:NM_022122:exon6:c.A797T:p.E266V exonic ENSG00000137675 NA nonsynonymous SNV ENSG00000137675:ENST00000260229:exon6:c.A797T:p.E266V NA NA 11q22.2 NA NA NA NA rs1276286 0.43 0.43 0.415 0.4375 0.4443 0.629 0.5043 0.1725 0.544 0.45 0.59 0.47 0.17 0.4658 0.59 0.44 T 0.0 B 0.0 B 0.002 N 1.000 P -0.485 N 2.52 T -0.933 T 0.000 T 0.05 -1.216 0.065 -1.3 -0.348 -0.450 5.235 -1.215502 NA 0.39 0.454059 0.241943 ID=COSM428288;OCCURENCE=1(breast) 0.449 NA 5.9691744 1055 6 116950876 116950876 G A intronic RSPH4A NA NA NA intronic ENSG00000111834 NA NA NA NA NA 6q22.1 NA Name=PU.1 Name=4 NA rs41290844 0.0032 0.0032 0.003 0.00219649 0.0089 NA 0.0029 NA NA 0.01 NA 0.0028 NA 0.0075 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2228 NA NA 0.014767 0.00227 NA NA NA 5.968833 1055 10 72503344 72503344 G A exonic ADAMTS14 NA synonymous SNV ADAMTS14:NM_080722:exon13:c.G1965A:p.T655T,ADAMTS14:NM_139155:exon13:c.G1974A:p.T658T exonic ENSG00000138316 NA synonymous SNV ENSG00000138316:ENST00000373207:exon13:c.G1965A:p.T655T,ENSG00000138316:ENST00000373208:exon13:c.G1974A:p.T658T NA NA 10q22.1 Score=807;Name=V$HTF_01 NA NA NA rs10999502 0.3 0.3 0.277 0.311502 0.2167 0.5387 0.2089 0.1641 0.4468 0.23 0.51 0.24 0.22 0.2691 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073693 NA NA 0.212093 0.172492 ID=COSM1178414;OCCURENCE=1(prostate) 0.21 NA 5.9687736 1055 19 45868309 45868309 T G exonic ERCC2 NA synonymous SNV ERCC2:NM_001130867:exon5:c.A396C:p.R132R,ERCC2:NM_000400:exon6:c.A468C:p.R156R exonic ENSG00000104884 NA synonymous SNV ENSG00000104884:ENST00000586856:exon4:c.A318C:p.R106R,ENSG00000104884:ENST00000391941:exon5:c.A396C:p.R132R,ENSG00000104884:ENST00000485403:exon5:c.A396C:p.R132R,ENSG00000104884:ENST00000391940:exon6:c.A396C:p.R132R,ENSG00000104884:ENST00000391945:exon6:c.A468C:p.R156R,ENSG00000104884:ENST00000586131:exon6:c.A396C:p.R132R Score=501;Name=lod=145 NA 19q13.32 NA Name=AP-2gamma NA NA rs238406 0.62 0.62 0.648 0.636182 0.5497 0.4901 0.487 0.9357 0.5767 0.57 0.52 0.49 0.92 0.5898 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901198 NA NA 0.558488 0.865638 NA 0.732 NA 5.9686786 1055 11 65384727 65384727 C T exonic PCNXL3 NA synonymous SNV PCNXL3:NM_032223:exon3:c.C348T:p.P116P exonic ENSG00000197136 NA synonymous SNV ENSG00000197136:ENST00000355703:exon3:c.C348T:p.P116P Score=490;Name=lod=131 NA 11q13.1 NA NA NA NA rs12790427 0.3 0.3 0.273 0.295927 0.1968 0.4226 0.4236 0.2648 0.2188 0.2 0.43 0.38 0.26 0.3045 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.492436 1.492436 NA 0.19678 0.238072 ID=COSM147270;OCCURENCE=1(stomach) 0.254 NA 5.9685866 1055 1 152193851 152193851 C T exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.G254A:p.R85H exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.G254A:p.R85H Score=474;Name=lod=113 NA 1q21.3 NA NA NA NA rs11204937 0.59 0.59 0.59 0.532548 0.829 0.3284 0.5519 0.4705 0.5082 0.82 0.36 0.63 0.47 0.7062 0.83 0.55 T 0.0 B 0.0 B . . 1.000 P -0.69 N 3.31 T -0.915 T 0.002 T 0.037 -0.365 2.281 0.954 0.091 0.309 7.362 -0.364615 NA 0.55 0.830116 0.524285 NA 0.681 NA 5.9680174 1055 7 64293217 64293217 T C UTR3 ZNF138 NM_006524:c.*637T>C,NM_001271649:c.*637T>C,NM_001160183:c.*1353T>C,NM_001271640:c.*1353T>C,NM_001271638:c.*637T>C,NM_001271637:c.*1412T>C,NM_001271639:c.*637T>C NA NA UTR3 ENSG00000197008 ENST00000359735:c.*637T>C,ENST00000437743:c.*637T>C,ENST00000440598:c.*1412T>C,ENST00000397136:c.*637T>C NA NA Score=389;Name=lod=51 NA 7q11.21 NA NA Name=7 NA rs3763506 0.26 0.26 0.228 0.239217 0.3658 0.1617 0.3314 0.1165 0.2894 0.35 0.18 0.35 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036712 NA NA NA NA NA 0.362 NA 5.9675334 1055 2 100019496 100019496 A G exonic REV1 NA synonymous SNV REV1:NM_001037872:exon20:c.T3237C:p.I1079I,REV1:NM_016316:exon20:c.T3240C:p.I1080I exonic ENSG00000135945 NA synonymous SNV ENSG00000135945:ENST00000258428:exon20:c.T3240C:p.I1080I,ENSG00000135945:ENST00000393445:exon20:c.T3237C:p.I1079I Score=295;Name=lod=21 NA 2q11.2 Score=945;Name=V$NFY_Q6 NA NA NA rs2305354 0.59 0.59 0.549 0.588658 0.5696 0.3681 0.7017 0.7564 0.5286 0.58 0.37 0.7 0.76 0.5797 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.1209 NA NA 0.550581 0.735361 NA 0.572 NA 5.9667856 1055 13 103504517 103504517 T C exonic BIVM-ERCC5,ERCC5 NA synonymous SNV ERCC5:NM_000123:exon2:c.T138C:p.H46H,BIVM-ERCC5:NM_001204425:exon10:c.T1500C:p.H500H exonic ENSG00000134899,ENSG00000270181 NA synonymous SNV ENSG00000134899:ENST00000355739:exon2:c.T138C:p.H46H,ENSG00000134899:ENST00000535557:exon2:c.T138C:p.H46H Score=471;Name=lod=109 NA 13q33.1 NA NA NA NA rs1047768 0.49 0.49 0.483 0.493011 0.5845 0.25 0.3991 0.6778 0.4663 0.58 0.24 0.44 0.66 0.5291 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826736 NA NA 0.586628 0.660917 NA 0.464 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116990.2;CLNDSDB=.;CLNDSDBID=. 5.9664386 1055 21 45533999 45533999 G A intronic PWP2 NA NA NA intronic ENSG00000241945 NA NA NA NA NA 21q22.3 NA Name=GABP,CTCFL_(SC-98982),SMC3_(ab9263),Rad21,ELF1_(SC-631),CTCF,CTCF_(SC-5916),CTCF_(C-20) Name=35 NA rs150895066 0.02 0.02 0.011 0.0129792 0.0338 0.004 0.0115 0.0008 0.0184 0.04 0.01 0.01 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231035 NA NA NA NA NA 0.007 NA 5.9662 1055 12 11183451 11183451 A T exonic TAS2R31 NA nonsynonymous SNV TAS2R31:NM_176885:exon1:c.T484A:p.L162M exonic ENSG00000256436 NA nonsynonymous SNV ENSG00000256436:ENST00000390675:exon1:c.T484A:p.L162M NA NA 12p13.2 NA NA NA NA rs10743938 0.75 0.75 0.729 0.694289 0.7982 0.8611 0.7954 0.4039 0.7362 0.83 0.89 0.79 0.42 0.7719 0.89 0.89 T 0.005 B 0.026 B . . 1.000 P -0.49 N 1.19 T -0.975 T 0.000 T 0.039 -1.774 0.01 -0.114 -0.532 -1.645 0.397 -1.773597 NA NA 0.797042 0.471225 NA 0.696 NA 5.9661914 1055 6 29760111 29760111 G C ncRNA_exonic HCG4 NA NA NA ncRNA_exonic ENSG00000176998 NA NA NA Score=278;Name=lod=18 NA 6p22.1 NA Name=YY1_(C-20) NA NA rs1737006 0.36 0.36 0.372 0.384784 0.3111 0.1964 0.3703 0.5991 0.3753 0.31 0.24 0.36 0.57 0.3894 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505167 NA NA NA NA NA 0.391 NA 5.9661666 1055 10 72517837 72517837 C T exonic ADAMTS14 NA synonymous SNV ADAMTS14:NM_080722:exon20:c.C3057T:p.P1019P,ADAMTS14:NM_139155:exon20:c.C3066T:p.P1022P exonic ENSG00000138316 NA synonymous SNV ENSG00000138316:ENST00000373207:exon20:c.C3057T:p.P1019P,ENSG00000138316:ENST00000373208:exon20:c.C3066T:p.P1022P NA NA 10q22.1 Score=782;Name=V$MYOGNF1_01 Name=CCNT2 NA NA rs6480463 0.52 0.52 0.507 0.516973 0.5517 0.4018 0.611 0.5537 0.4836 0.53 0.41 0.62 0.57 0.5608 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589173 NA NA 0.588488 0.536768 ID=COSM1348862;OCCURENCE=1(large_intestine) 0.514 NA 5.9656786 1055 1 121116678 121116678 C T intronic SRGAP2D NA NA NA ncRNA_intronic ENSG00000171943,ENSG00000230806 NA NA NA Score=659;Name=lod=638 NA 1p11.2 Score=746;Name=V$MEF2_04 NA NA NA rs61806689 NA NA 0.212 NA NA NA NA NA NA NA NA NA NA 0.3677 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011601 NA NA NA NA NA 0.029 NA 5.9656333 1055 13 49785877 49785877 C T intergenic FNDC3A,MLNR dist=1962;dist=8597 NA NA ncRNA_exonic ENSG00000231665 NA NA NA Score=505;Name=lod=151 NA 13q14.2 NA Name=Pol2(phosphoS2) NA NA rs11619052 0.02 0.02 0.017 0.0171725 0.0348 NA 0.0303 0.0023 0.0276 0.03 NA 0.03 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286308 NA NA NA NA NA 0.014 NA 5.9652 1056 1 33790496 33790496 G A exonic PHC2 NA synonymous SNV PHC2:NM_004427:exon7:c.C942T:p.Y314Y,PHC2:NM_198040:exon14:c.C2547T:p.Y849Y exonic ENSG00000134686 NA synonymous SNV ENSG00000134686:ENST00000373418:exon7:c.C942T:p.Y314Y,ENSG00000134686:ENST00000373422:exon8:c.C1365T:p.Y455Y,ENSG00000134686:ENST00000431992:exon13:c.C2460T:p.Y820Y,ENSG00000134686:ENST00000257118:exon14:c.C2547T:p.Y849Y,ENSG00000134686:ENST00000419414:exon15:c.C2550T:p.Y850Y Score=463;Name=lod=102 NA 1p35.1 NA NA NA NA rs11554674 0.17 0.17 0.158 0.172923 0.2416 0.2113 0.1715 0.0182 0.273 0.24 0.2 0.17 0.03 0.2133 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32594 NA NA 0.247209 0.051521 NA 0.145 NA 5.9645576 1056 12 123105143 123105143 C T exonic KNTC1 NA synonymous SNV KNTC1:NM_014708:exon60:c.C6267T:p.H2089H exonic ENSG00000184445 NA synonymous SNV ENSG00000184445:ENST00000534995:exon1:c.C30T:p.H10H,ENSG00000184445:ENST00000436959:exon16:c.C30T:p.H10H,ENSG00000184445:ENST00000450485:exon35:c.C3042T:p.H1014H,ENSG00000184445:ENST00000333479:exon60:c.C6267T:p.H2089H Score=389;Name=lod=51 NA 12q24.31 NA NA NA NA rs2270775 0.26 0.26 0.244 0.236821 0.2376 0.4425 0.1744 0.0908 0.2658 0.24 0.48 0.2 0.09 0.2332 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79096 NA 0.25 0.23155 0.093781 NA 0.196 NA 5.9643166 1056 1 196876458 196876458 A G exonic CFHR4 NA nonsynonymous SNV CFHR4:NM_001201550:exon5:c.A629G:p.N210S,CFHR4:NM_001201551:exon5:c.A626G:p.N209S exonic ENSG00000134365 NA nonsynonymous SNV ENSG00000134365:ENST00000367416:exon5:c.A626G:p.N209S NA NA 1q31.3 NA NA NA NA rs7417769 0.63 0.63 0.587 0.589058 0.6839 0.8304 0.7305 0.2095 0.6554 0.69 0.83 0.7 0.26 0.6852 0.83 0.89 T 0.0 B 0.001 B . . 1.000 P . . 1.49 T -0.982 T 0.000 T 0.0 0.865 8.504 1.13 -0.002 0.164 3.166 0.864967 NA NA NA NA NA 0.601 NA 5.9642334 1056 8 101153024 101153024 G A exonic FBXO43 NA synonymous SNV FBXO43:NM_001029860:exon2:c.C1458T:p.I486I exonic ENSG00000156509 NA synonymous SNV ENSG00000156509:ENST00000428847:exon2:c.C1458T:p.I486I Score=638;Name=lod=523 NA 8q22.2 Score=898;Name=V$NFY_C NA NA NA rs1460934 0.66 0.66 0.645 0.658147 0.5557 0.7292 0.6888 0.7337 0.5665 0.57 0.73 0.67 0.71 0.6016 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725016 NA NA 0.545221 0.698851 NA 0.558 NA 5.9641456 1056 19 36004106 36004106 A G exonic DMKN NA nonsynonymous SNV DMKN:NM_001126056:exon1:c.T272C:p.V91A,DMKN:NM_001126057:exon1:c.T272C:p.V91A,DMKN:NM_001126058:exon1:c.T272C:p.V91A,DMKN:NM_001190347:exon1:c.T272C:p.V91A,DMKN:NM_001190348:exon1:c.T272C:p.V91A,DMKN:NM_001190349:exon1:c.T272C:p.V91A,DMKN:NM_033317:exon1:c.T272C:p.V91A exonic ENSG00000161249 NA nonsynonymous SNV ENSG00000161249:ENST00000339686:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000418261:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000419602:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000424570:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000429837:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000440396:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000447113:exon1:c.T272C:p.V91A,ENSG00000161249:ENST00000451297:exon1:c.T272C:p.V91A NA NA 19q13.12 NA NA NA NA rs4806163 0.85 0.85 0.859 0.859625 0.7922 0.8671 0.7378 0.9909 0.8303 0.79 0.89 0.74 0.99 0.8067 0.99 0.58 T 0.001 B 0.002 B . . 1.000 P -0.755 N 2.62 T -1.047 T 0.000 T 0.2 0.15 4.805 -2.29 -0.726 -0.080 6.360 0.14974 NA 0.67 0.771744 0.956423 NA 0.884 NA 5.9626894 1056 17 8076655 8076655 C T UTR3 TMEM107 NM_183065:c.*866G>A,NM_032354:c.*866G>A NA NA UTR3 ENSG00000179029 ENST00000449985:c.*915G>A NA NA NA NA 17p13.1 NA Name=GATA-1,TAF1,p300_(F-4),MafK_(SC-477),POU2F2,HMGN3,MafF_(M8194),Pol2,BCL11A,BCLAF1_(M33-P5B11),TAF7_(SQ-8),YY1_(C-20),TR4,MEF2A,Oct-2,CTCF,BATF,CHD2_(N-1250),JunD,Pol2(b),SIRT6,FOXA1_(C-20),STAT3,c-Jun,Sin3Ak-20,Pol2-4H8,ZNF263,KAP1,NFKB,eGFP-GATA2,BCL3,HEY1,MafK_(ab50322),SIX5,USF-1 Name=147 NA rs3202848 0.21 0.21 0.187 0.175319 0.3708 0.1141 0.2089 0.0545 0.1769 0.37 0.1 0.25 0.04 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847207 NA NA NA NA NA 0.304 NA 5.9625334 1056 21 43495970 43495970 G A intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=4 NA rs116951179 0.02 0.02 0.015 0.0189696 0.0378 0.001 0.0216 0.0015 0.0399 0.03 0.0017 0.03 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669779 NA NA NA NA NA 0.014 NA 5.9622 1056 21 43496001 43496001 G A intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=4 NA rs117874798 0.02 0.02 0.015 0.0191693 0.0378 0.001 0.0231 0.0015 0.0399 0.03 0.0017 0.03 0.002 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288589 NA NA NA NA NA 0.029 NA 5.9622 1056 20 25059381 25059381 A T exonic VSX1 NA synonymous SNV VSX1:NM_199425:exon3:c.T711A:p.P237P exonic ENSG00000100987 NA synonymous SNV ENSG00000100987:ENST00000376707:exon3:c.T711A:p.P237P NA NA 20p11.21 NA NA Name=2 NA rs56157240 0.25 0.25 0.237 0.290535 0.2207 0.0268 0.3516 0.4992 0.3088 0.22 0.02 0.33 0.51 0.2544 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252056 NA NA 0.229753 0.426526 NA 0.275 NA 5.9618136 1056 16 50745199 50745199 C T exonic NOD2 NA synonymous SNV NOD2:NM_022162:exon4:c.C1377T:p.R459R exonic ENSG00000167207 NA synonymous SNV ENSG00000167207:ENST00000300589:exon4:c.C1377T:p.R459R Score=371;Name=lod=43 NA 16q12.1 NA NA NA NA rs2066843 0.13 0.13 0.129 0.107628 0.2475 0.0079 0.1671 0.0477 0.1053 0.24 0.0017 0.19 0.06 0.1864 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.109131 NA NA 0.270993 0.066879 NA 0.225 NA 5.9617736 1056 4 162307060 162307060 G T exonic FSTL5 NA synonymous SNV FSTL5:NM_001128428:exon15:c.C2353A:p.R785R,FSTL5:NM_001128427:exon16:c.C2380A:p.R794R,FSTL5:NM_020116:exon16:c.C2383A:p.R795R exonic ENSG00000168843 NA synonymous SNV ENSG00000168843:ENST00000427802:exon15:c.C2353A:p.R785R,ENSG00000168843:ENST00000536695:exon15:c.C2380A:p.R794R,ENSG00000168843:ENST00000306100:exon16:c.C2383A:p.R795R,ENSG00000168843:ENST00000379164:exon16:c.C2380A:p.R794R NA NA 4q32.2 NA NA Name=4 NA rs17040984 0.2 0.2 0.203 0.182109 0.2256 0.3175 0.1657 0.0416 0.1994 0.23 0.32 0.2 0.04 0.227 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615113 NA NA 0.252674 0.073309 NA 0.246 NA 5.9613926 1056 3 53125922 53125922 T C exonic RFT1 NA synonymous SNV RFT1:NM_052859:exon13:c.A1623G:p.T541T exonic ENSG00000163933 NA synonymous SNV ENSG00000163933:ENST00000394738:exon12:c.A1506G:p.T502T,ENSG00000163933:ENST00000296292:exon13:c.A1623G:p.T541T NA NA 3p21.1 Score=905;Name=V$OCT1_06 NA NA NA rs11242 0.55 0.55 0.512 0.490415 0.5964 0.746 0.585 0.174 0.4785 0.59 0.73 0.59 0.23 0.551 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049834 NA NA 0.557907 0.25488 NA 0.435 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082329.1;CLNDSDB=.;CLNDSDBID=. 5.9613596 1056 7 44579180 44579180 G C exonic NPC1L1 NA synonymous SNV NPC1L1:NM_001101648:exon2:c.C816G:p.L272L,NPC1L1:NM_013389:exon2:c.C816G:p.L272L exonic ENSG00000015520 NA synonymous SNV ENSG00000015520:ENST00000289547:exon2:c.C816G:p.L272L,ENSG00000015520:ENST00000381160:exon2:c.C816G:p.L272L,ENSG00000015520:ENST00000423141:exon2:c.C816G:p.L272L,ENSG00000015520:ENST00000546276:exon2:c.C816G:p.L272L NA Name=Cholesterol, total,LDL cholesterol 7p13 NA NA NA NA rs2072183 0.27 0.27 0.243 0.247204 0.2336 0.374 0.245 0.1952 0.2025 0.24 0.42 0.24 0.18 0.2477 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.352968 NA NA 0.224186 0.220381 NA 0.188 NA 5.9611806 1056 2 211456639 211456639 C T exonic CPS1 NA synonymous SNV CPS1:NM_001875:exon10:c.C1032T:p.T344T,CPS1:NM_001122633:exon11:c.C1050T:p.T350T exonic ENSG00000021826 NA synonymous SNV ENSG00000021826:ENST00000233072:exon10:c.C1032T:p.T344T,ENSG00000021826:ENST00000430249:exon11:c.C1050T:p.T350T Score=657;Name=lod=622 NA 2q34 NA NA NA NA rs2229589 0.57 0.57 0.568 0.591254 0.5646 0.5585 0.4914 0.6679 0.6196 0.55 0.53 0.48 0.7 0.5736 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86904 NA NA 0.567558 0.656151 NA NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116830.2|RCV000124589.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.9609086 1056 19 4929413 4929413 T C exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA Score=343;Name=lod=33 NA 19p13.3 NA NA Name=37 NA rs2251520 0.26 0.26 0.264 0.320288 0.2913 0.0913 0.4193 0.4259 0.3732 0.27 0.07 0.39 0.4 0.3034 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271848 NA NA 0.277973 0.385315 NA 0.254 NA 5.9606603 1056 20 25059546 25059546 T C exonic VSX1 NA synonymous SNV VSX1:NM_001256271:exon3:c.A546G:p.A182A,VSX1:NM_001256272:exon3:c.A546G:p.A182A,VSX1:NM_014588:exon3:c.A546G:p.A182A,VSX1:NM_199425:exon3:c.A546G:p.A182A exonic ENSG00000100987 NA synonymous SNV ENSG00000100987:ENST00000376707:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000376709:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000409285:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000409958:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000424574:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000429762:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000444511:exon3:c.A546G:p.A182A,ENSG00000100987:ENST00000451258:exon3:c.A546G:p.A182A NA NA 20p11.21 Score=852;Name=V$CEBP_C NA NA NA rs12480307 0.25 0.25 0.235 0.290335 0.2207 0.0268 0.3501 0.4992 0.3088 0.22 0.02 0.33 0.51 0.2543 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950366 NA NA 0.231047 0.433046 ID=COSM1410857,COSM1410856;OCCURENCE=1(large_intestine) 0.268 NA 5.9606196 1056 22 37603051 37603051 C T exonic SSTR3 NA synonymous SNV SSTR3:NM_001051:exon2:c.G792A:p.A264A exonic ENSG00000183473 NA synonymous SNV ENSG00000183473:ENST00000328544:exon2:c.G792A:p.A264A,ENSG00000183473:ENST00000402501:exon2:c.G792A:p.A264A NA NA 22q13.1 Score=812;Name=V$RFX1_02 NA NA NA rs229569 0.4 0.4 0.398 0.390775 0.2227 0.5863 0.3343 0.4811 0.2802 0.22 0.63 0.33 0.44 0.2806 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.001708 NA NA 0.202791 0.432365 NA 0.283 NA 5.9605756 1056 4 38829163 38829163 A C exonic TLR6 NA synonymous SNV TLR6:NM_006068:exon2:c.T1932G:p.A644A exonic ENSG00000174130 NA synonymous SNV ENSG00000174130:ENST00000381950:exon1:c.T1932G:p.A644A,ENSG00000174130:ENST00000436693:exon2:c.T1932G:p.A644A Score=499;Name=lod=142 NA 4p14 NA NA NA NA rs5743818 0.12 0.12 0.098 0.0896565 0.2445 0.0089 0.0879 0.0416 0.0798 0.27 0.02 0.1 0.04 0.1929 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.113661 NA NA 0.268837 0.081026 NA 0.13 NA 5.9604296 1056 17 73266180 73266180 G C intronic MIF4GD NA NA NA intronic ENSG00000125457 NA NA NA NA NA 17q25.1 NA Name=HA-E2F1 Name=7 NA rs3744232 0.08 0.08 0.077 0.104433 0.001 0.0992 0.072 0.2156 0.089 0.0026 0.05 0.07 0.25 0.0358 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661463 NA NA 0.002791 0.156151 NA 0.101 NA 5.960409 1056 4 15569018 15569018 G A exonic CC2D2A NA synonymous SNV CC2D2A:NM_001080522:exon26:c.G3201A:p.S1067S exonic ENSG00000048342 NA synonymous SNV ENSG00000048342:ENST00000389652:exon23:c.G3054A:p.S1018S,ENSG00000048342:ENST00000413206:exon25:c.G3201A:p.S1067S,ENSG00000048342:ENST00000424120:exon25:c.G3201A:p.S1067S,ENSG00000048342:ENST00000503292:exon26:c.G3201A:p.S1067S NA NA 4p15.32 NA NA NA NA rs73125627 0.16 0.16 0.144 0.151757 0.2475 0.0724 0.1873 0.1051 0.1728 0.25 0.06 0.2 0.12 0.212 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.535438 NA NA 0.247421 0.12069 ID=COSM1131209;OCCURENCE=1(prostate) 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114173.2;CLNDSDB=.;CLNDSDBID=. 5.9597456 1056 2 202082459 202082459 T A exonic CASP10 NA nonsynonymous SNV CASP10:NM_001206524:exon8:c.T1363A:p.L455I,CASP10:NM_001230:exon8:c.T1435A:p.L479I,CASP10:NM_032977:exon10:c.T1564A:p.L522I exonic ENSG00000003400 NA nonsynonymous SNV ENSG00000003400:ENST00000313728:exon8:c.T1363A:p.L455I,ENSG00000003400:ENST00000346817:exon8:c.T1435A:p.L479I,ENSG00000003400:ENST00000286186:exon10:c.T1564A:p.L522I NA NA 2q33.1 NA NA NA NA rs13006529 0.35 0.35 0.335 0.329073 0.4742 0.2073 0.3876 0.3328 0.2587 0.47 0.18 0.4 0.33 0.4099 0.49 0.29 T 0.358 B 0.086 B 0.034 N 1.000 P . . 4.43 T -0.950 T 0.000 T 0.043 1.915 12.36 -1.39 -0.138 0.247 1.083 1.914818 1.914818 0.18 0.489651 0.351112 NA 0.304 NA 5.9595824 1056 12 12247616 12247616 T C exonic BCL2L14 NA synonymous SNV BCL2L14:NM_138722:exon5:c.T697C:p.L233L,BCL2L14:NM_138723:exon5:c.T697C:p.L233L exonic ENSG00000121380 NA synonymous SNV ENSG00000121380:ENST00000308721:exon5:c.T697C:p.L233L,ENSG00000121380:ENST00000396367:exon5:c.T697C:p.L233L,ENSG00000121380:ENST00000589718:exon6:c.T697C:p.L233L,ENSG00000121380:ENST00000586576:exon7:c.T796C:p.L266L NA NA 12p13.2 Score=901;Name=V$GATA_C NA NA NA rs11054683 0.18 0.18 0.178 0.160144 0.2525 0.0188 0.1671 0.2216 0.1227 0.26 0.01 0.2 0.25 0.208 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24269 NA NA 0.246628 0.210622 NA 0.232 NA 5.9595386 1056 16 23489711 23489711 C G exonic GGA2 NA nonsynonymous SNV GGA2:NM_015044:exon13:c.G1270C:p.A424P exonic ENSG00000103365 NA nonsynonymous SNV ENSG00000103365:ENST00000309859:exon13:c.G1270C:p.A424P NA NA 16p12.2 NA NA NA NA rs1135045 0.7 0.7 0.703 0.676318 0.8111 0.6994 0.7233 0.5219 0.6892 0.81 0.68 0.75 0.54 0.7564 0.81 0.48 T 0.0 B 0.0 B 0.520 N 0.869 P -1.87 N 2.51 T -1.004 T 0.000 T 0.052 -0.727 0.886 2.1 0.139 0.670 6.247 -0.72695 NA 0.35 0.806395 0.580564 NA 0.746 NA 5.9594384 1056 19 4534014 4534014 G A intronic PLIN5 NA NA NA exonic ENSG00000214456 NA nonsynonymous SNV ENSG00000214456:ENST00000592610:exon1:c.C73T:p.P25S,ENSG00000214456:ENST00000586133:exon2:c.C73T:p.P25S NA NA 19p13.3 NA Name=STAT3 NA NA rs11085080 0.06 0.06 0.067 0.0601038 0.0656 NA 0.0548 0.1089 0.0542 0.07 0.0017 0.07 0.12 0.0784 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137713 NA NA 0.063684 0.112346 NA 0.072 NA 5.9589827 1056 1 1896440 1896440 G A exonic KIAA1751 NA synonymous SNV KIAA1751:NM_001080484:exon13:c.C1462T:p.L488L exonic ENSG00000142609 NA synonymous SNV ENSG00000142609:ENST00000604159:exon2:c.C217T:p.L73L Score=409;Name=lod=61 NA 1p36.33 NA NA NA NA rs16824585 0.25 0.25 0.247 0.216653 0.2276 0.2718 0.2032 0.2489 0.1145 0.24 0.29 0.21 0.24 0.2353 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475931 NA NA 0.244927 0.231803 NA 0.319 NA 5.9588396 1056 17 648157 648157 G A exonic GEMIN4 NA synonymous SNV GEMIN4:NM_015721:exon2:c.C3126T:p.I1042I exonic ENSG00000179409 NA synonymous SNV ENSG00000179409:ENST00000576778:exon1:c.C3093T:p.I1031I,ENSG00000179409:ENST00000319004:exon2:c.C3126T:p.I1042I Score=516;Name=lod=166 NA 17p13.3 NA NA NA NA rs1045481 0.16 0.16 0.148 0.158546 0.2455 0.122 0.1772 0.0545 0.2342 0.24 0.13 0.2 0.05 0.2118 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.472232 NA NA 0.25072 0.09116 NA 0.167 NA 5.9586466 1056 21 46705621 46705621 G A exonic POFUT2 NA synonymous SNV POFUT2:NM_015227:exon2:c.C354T:p.P118P,POFUT2:NM_133635:exon2:c.C354T:p.P118P exonic ENSG00000186866 NA synonymous SNV ENSG00000186866:ENST00000331343:exon2:c.C354T:p.P118P,ENSG00000186866:ENST00000334538:exon2:c.C354T:p.P118P,ENSG00000186866:ENST00000349485:exon2:c.C354T:p.P118P NA NA 21q22.3 Score=760;Name=V$MEF2_01 NA NA NA rs2297285 0.17 0.17 0.155 0.163339 0.2485 0.1776 0.1196 0.0159 0.2914 0.25 0.2 0.14 0.02 0.2136 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221784 NA NA 0.246047 0.051521 NA 0.138 NA 5.9585196 1056 19 4929473 4929473 A G exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA Score=486;Name=lod=126 NA 19p13.3 NA NA Name=37 NA rs2123731 0.27 0.27 0.255 0.320687 0.2922 0.0903 0.4193 0.4274 0.3732 0.27 0.07 0.39 0.41 0.3034 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879747 NA NA 0.279267 0.391204 NA 0.268 NA 5.9584663 1056 6 41752598 41752598 C T intronic PRICKLE4 NA NA NA intronic ENSG00000124593,ENSG00000137218 NA NA NA NA NA 6p21.1 NA Name=GATA3_(SC-268),GATA-2,eGFP-GATA2 Name=23 NA rs114793773 0.02 0.02 0.015 0.0157748 0.0417 0.001 0.0432 0.0015 0.0041 0.04 NA 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360438 NA NA NA NA NA 0.014 NA 5.9583 1056 11 280816 280816 A T exonic NLRP6 NA nonsynonymous SNV NLRP6:NM_001276700:exon4:c.A1082T:p.Y361F,NLRP6:NM_138329:exon4:c.A1082T:p.Y361F exonic ENSG00000174885 NA nonsynonymous SNV ENSG00000174885:ENST00000312165:exon4:c.A1082T:p.Y361F,ENSG00000174885:ENST00000534750:exon4:c.A1082T:p.Y361F NA NA 11p15.5 NA NA NA NA rs7482965 0.65 0.65 0.181 0.700879 0.8807 0.2877 0.8228 0.8169 0.6984 0.81 0.25 0.81 0.75 0.7933 0.81 0.67 T 0.0 B 0.001 B 0.021 N 1.000 P 0.265 N -1.22 T -0.950 T 0.000 T 0.153 -1.108 0.135 3.52 0.491 -0.170 7.805 -1.108399 NA 0.51 0.701163 0.613936 NA NA NA 5.9581704 1056 6 168349011 168349011 C T exonic MLLT4 NA synonymous SNV MLLT4:NM_001207008:exon27:c.C3612T:p.I1204I,MLLT4:NM_001040000:exon28:c.C3663T:p.I1221I exonic ENSG00000130396 NA synonymous SNV ENSG00000130396:ENST00000344191:exon28:c.C3663T:p.I1221I,ENSG00000130396:ENST00000392108:exon28:c.C3663T:p.I1221I,ENSG00000130396:ENST00000392112:exon28:c.C3612T:p.I1204I,ENSG00000130396:ENST00000400822:exon28:c.C3660T:p.I1220I,ENSG00000130396:ENST00000447894:exon28:c.C3663T:p.I1221I,ENSG00000130396:ENST00000351017:exon29:c.C3684T:p.I1228I,ENSG00000130396:ENST00000366806:exon29:c.C3663T:p.I1221I Score=502;Name=lod=146 NA 6q27 NA NA NA NA rs9364371 0.23 0.23 0.208 0.237819 0.2296 0.3433 0.2493 0.1135 0.2975 0.23 0.32 0.23 0.12 0.2496 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.515461 1.515461 NA 0.229302 0.138675 ID=COSM150218;OCCURENCE=1(stomach) 0.181 NA 5.9581646 1056 9 19341045 19341045 A G exonic DENND4C NA synonymous SNV DENND4C:NM_017925:exon20:c.A2790G:p.A930A exonic ENSG00000137145 NA synonymous SNV ENSG00000137145:ENST00000540671:exon7:c.A72G:p.A24A,ENSG00000137145:ENST00000380432:exon16:c.A2082G:p.A694A,ENSG00000137145:ENST00000307015:exon17:c.A510G:p.A170A,ENSG00000137145:ENST00000602925:exon20:c.A2790G:p.A930A,ENSG00000137145:ENST00000434457:exon21:c.A2937G:p.A979A Score=374;Name=lod=44 NA 9p22.1 NA NA NA NA rs928128 0.21 0.21 0.215 0.213858 0.2535 0.0159 0.2046 0.354 0.1943 0.23 0.02 0.21 0.37 0.2196 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329775 NA NA 0.236047 0.318883 ID=COSM1461658;OCCURENCE=1(large_intestine) 0.261 NA 5.9575196 1056 9 133914570 133914570 G A exonic LAMC3 NA synonymous SNV LAMC3:NM_006059:exon6:c.G1218A:p.T406T exonic ENSG00000050555 NA synonymous SNV ENSG00000050555:ENST00000361069:exon6:c.G1218A:p.T406T NA NA 9q34.12 NA NA NA NA rs2293518 0.18 0.18 0.17 0.154952 0.2445 0.1399 0.2061 0.1104 0.1022 0.22 0.14 0.23 0.13 0.2118 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.546617 2.546617 NA 0.253605 0.114616 ID=COSM1180464;OCCURENCE=1(prostate) 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117456.2;CLNDSDB=.;CLNDSDBID=. 5.9567616 1056 10 119026186 119026186 T G intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA Score=399;Name=lod=56 NA 10q25.3 NA NA Name=5 NA rs11568725 0.01 0.01 0.014 0.0107827 0.0219 NA 0.0303 0.0023 0.0082 0.02 NA 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996972 NA NA 0.021384 0.002168 NA NA NA 5.956716 1056 22 30765502 30765502 G A exonic CCDC157 NA synonymous SNV CCDC157:NM_001017437:exon4:c.G330A:p.A110A exonic ENSG00000187860 NA synonymous SNV ENSG00000187860:ENST00000445005:exon3:c.G330A:p.A110A,ENSG00000187860:ENST00000338306:exon4:c.G330A:p.A110A,ENSG00000187860:ENST00000405659:exon4:c.G330A:p.A110A,ENSG00000187860:ENST00000430839:exon4:c.G330A:p.A110A NA NA 22q12.2 Score=697;Name=V$P53_01 NA NA NA rs5749080 0.17 0.17 0.182 0.153355 0.2545 0.1458 0.1571 0.1324 0.0828 0.24 0.12 0.15 0.15 0.1986 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408094 NA NA 0.257093 0.154335 NA 0.268 NA 5.9564736 1056 9 20981799 20981799 G A intronic FOCAD NA NA NA intronic ENSG00000188352 NA NA NA Score=325;Name=lod=28 NA 9p21.3 NA NA Name=85 NA rs72703998 0.02 0.02 0.012 0.0171725 0.0437 NA 0.0159 0.0023 0.0286 0.04 NA 0.02 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.970899 1.970899 NA NA NA NA 0.014 NA 5.9563 1056 12 52661302 52661302 C A intergenic KRT7,KRT81 dist=18593;dist=18395 NA NA intronic ENSG00000170442 NA NA NA Score=628;Name=lod=476 NA 12q13.13 NA NA NA NA rs1870224 0.91 0.91 0.927 0.910343 0.8429 0.9881 0.8473 0.9894 0.8374 0.84 0.99 0.82 0.98 0.8677 0.99 0 D . . . . . . . . . . . . -1.011 T 0.000 T . -1.107 0.137 -2.38 -0.640 0.604 7.869 -1.106675 NA NA NA NA NA 0.978 NA 5.9560667 1056 19 47200875 47200875 C T intronic PRKD2 NA NA NA intronic ENSG00000105287 NA NA NA NA NA 19q13.32 NA Name=HMGN3,Egr-1,IRF1,CCNT2,ZBTB7A_(SC-34508) Name=120 NA rs76308698 0.02 0.02 0.021 0.0111821 0.0447 NA 0.0115 NA 0.0031 0.05 NA 0.01 NA NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.328971 1.328971 NA NA NA NA 0.007 NA 5.9553 1056 22 30220925 30220925 C T intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA Score=378;Name=lod=46 NA 22q12.2 NA NA Name=4 NA rs112626077 0.06 0.06 0.048 0.0607029 0.0447 0.0853 0.0735 0.0227 0.0941 0.05 0.1 0.06 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.244432 3.244432 NA NA NA NA 0.051 NA 5.9553 1057 13 41438067 41438067 G A ncRNA_intronic TPTE2P5 NA NA NA ncRNA_intronic ENSG00000168852 NA NA NA NA NA 13q14.11 NA Name=Rad21 Name=2 NA rs9315791 0.45 0.45 0.405 0.42512 0.7117 0.1706 0.67 0.1664 0.5685 0.73 0.19 0.64 0.18 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755808 NA NA NA NA NA 0.478 NA 5.9549666 1057 1 216050980 216050980 C T intronic USH2A NA NA NA intronic ENSG00000042781 NA NA NA Score=506;Name=lod=152 NA 1q41 NA NA Name=4 NA rs56301415 0.07 0.07 0.057 0.077476 0.0457 0.1448 0.0576 0.0582 0.0808 0.04 0.12 0.05 0.06 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.536602 3.536602 NA NA NA NA 0.051 NA 5.9543 1057 11 64714780 64714780 C A intronic C11orf85 NA NA NA intronic ENSG00000168070 NA NA NA NA NA 11q13.1 NA Name=CTCF Name=34 NA rs7482817 0.04 0.04 0.041 0.0403355 0.0467 NA 0.0346 0.0598 0.0532 0.05 NA 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719416 NA NA NA NA NA 0.022 NA 5.9533 1057 11 87908346 87908346 C G intronic RAB38 NA NA NA intronic ENSG00000123892 NA NA NA Score=558;Name=lod=246 NA 11q14.2 NA Name=GATA-2 Name=68 NA rs302647 0.27 0.27 0.26 0.240415 0.337 0.3194 0.281 0.0968 0.2249 0.35 0.27 0.29 0.12 0.4012 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.082742 2.082742 NA 0.309097 0.139672 NA 0.29 NA 5.952703 1057 5 7869235 7869235 T C UTR5 MTRR NM_024010:c.-12T>C,NM_002454:c.-1673T>C NA NA UTR5 ENSG00000124275 ENST00000264668:c.-12T>C,ENST00000513439:c.-1673T>C NA NA NA NA 5p15.31 NA Name=Pol2-4H8,E2F1,c-Fos,E2F6,Sin3Ak-20,YY1_(C-20),HA-E2F1,YY1,Ini1,SP1,Mxi1_(bHLH),RFX5_(N-494),Pol2,GABP,POU2F2,E2F4,SP2_(SC-643),NF-YA,E2F6_(H-50),ETS1,TAF1,CHD2_(N-1250),GTF2F1_(RAP-74),CEBPB,IRF1,TBP,TCF12,Nrf1,EBF1_(C-8),Oct-2,PAX5-C20,NF-YB,NFKB,HEY1,IRF3,ELF1_(SC-631),AP-2gamma,c-Myc,Max Name=148 NA rs72716536 0.2 0.2 0.181 0.229034 0.1173 0.1538 0.3242 0.3646 0.1708 0.11 0.17 0.27 0.33 0.1586 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576992 NA NA 0.104767 0.315706 NA 0.268 NA 5.9526664 1057 1 65117762 65117762 A G intronic CACHD1 NA NA NA intronic ENSG00000158966 NA NA NA NA NA 1p31.3 Score=795;Name=V$BACH1_01 NA Name=6 NA rs41302756 0.09 0.09 0.074 0.103235 0.0477 0.1915 0.0749 0.0703 0.1339 0.05 0.17 0.08 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46722 NA NA NA NA NA 0.181 NA 5.9523 1057 3 12299945 12299945 G C intergenic SYN2,PPARG dist=66413;dist=29404 NA NA ncRNA_exonic ENSG00000236062 NA NA NA Score=467;Name=lod=105 NA 3p25.2 NA Name=CHD2_(N-1250) NA NA rs13067702 0.03 0.03 0.031 0.0389377 0.0477 0.0228 0.0159 0.025 0.0818 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108548 NA NA NA NA NA 0.036 NA 5.9523 1057 12 6138595 6138595 C T exonic VWF NA synonymous SNV VWF:NM_000552:exon22:c.G2880A:p.R960R exonic ENSG00000110799 NA synonymous SNV ENSG00000110799:ENST00000261405:exon22:c.G2880A:p.R960R Score=448;Name=lod=88 NA 12p13.31 NA NA NA NA rs1800380 0.18 0.18 0.174 0.179113 0.2555 0.004 0.1902 0.3079 0.0992 0.25 0.0017 0.22 0.27 0.2081 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60842 NA NA 0.251395 0.311621 NA 0.159 NA 5.9516716 1057 2 219252208 219252208 C T intronic SLC11A1 NA NA NA intronic ENSG00000018280 NA NA NA NA NA 2q35 NA Name=FOXA1_(C-20),KAP1,SP1,HNF4G_(SC-6558),ELF1_(SC-631),FOXA1_(SC-101058),HEY1,p300 Name=125 NA rs3731863 0.08 0.08 0.084 0.103834 0.0487 0.1111 0.0562 0.1604 0.1104 0.05 0.09 0.07 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490362 NA NA NA NA NA 0.08 NA 5.9513 1057 6 151773831 151773831 C T intronic C6orf211 NA NA NA intronic ENSG00000146476 NA NA NA NA NA 6q25.1 NA Name=Pol2,HA-E2F1,Pol2-4H8,TAF1,ZBTB7A_(SC-34508) Name=3 NA rs111270458 0.1 0.1 0.089 0.110823 0.0487 0.1577 0.0447 0.1823 0.0767 0.05 0.14 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.930482 1.930482 NA NA NA NA 0.087 NA 5.9513 1057 7 93519390 93519390 C T intronic TFPI2 NA NA NA intronic ENSG00000105825,ENSG00000127928 NA NA NA NA NA 7q21.3 NA Name=CTCF,Rad21,TBP Name=98 NA rs59999573 0.1 0.1 0.087 0.107029 0.0487 0.1468 0.147 0.1142 0.0879 0.05 0.17 0.12 0.1 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296408 NA NA NA NA NA 0.08 NA 5.9513 1057 18 6889973 6889973 A G exonic ARHGAP28 NA synonymous SNV ARHGAP28:NM_001010000:exon12:c.A1146G:p.P382P exonic ENSG00000088756 NA synonymous SNV ENSG00000088756:ENST00000579689:exon5:c.A534G:p.P178P,ENSG00000088756:ENST00000314319:exon11:c.A1146G:p.P382P,ENSG00000088756:ENST00000418986:exon11:c.A1146G:p.P382P,ENSG00000088756:ENST00000532996:exon11:c.A1092G:p.P364P,ENSG00000088756:ENST00000419673:exon12:c.A1146G:p.P382P,ENSG00000088756:ENST00000531294:exon12:c.A1131G:p.P377P,ENSG00000088756:ENST00000262227:exon13:c.A1467G:p.P489P,ENSG00000088756:ENST00000383472:exon13:c.A1623G:p.P541P,ENSG00000088756:ENST00000400091:exon13:c.A1623G:p.P541P Score=559;Name=lod=249 NA 18p11.31 Score=885;Name=V$E2F_02 NA NA NA rs4239328 0.59 0.59 0.59 0.560903 0.5736 0.6052 0.5331 0.5545 0.5307 0.56 0.68 0.56 0.54 0.5705 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.342138 1.342138 NA 0.571977 0.568089 NA 0.558 NA 5.9505896 1057 22 37603390 37603390 C T exonic SSTR3 NA synonymous SNV SSTR3:NM_001051:exon2:c.G453A:p.S151S exonic ENSG00000183473 NA synonymous SNV ENSG00000183473:ENST00000328544:exon2:c.G453A:p.S151S,ENSG00000183473:ENST00000402501:exon2:c.G453A:p.S151S NA NA 22q13.1 Score=907;Name=V$AP2_Q6 NA NA NA rs86582 0.4 0.4 0.407 0.390575 0.2217 0.5863 0.3343 0.4811 0.2802 0.22 0.63 0.33 0.44 0.2871 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803003 NA NA 0.20749 0.4335 NA 0.326 NA 5.9503766 1057 1 47609407 47609407 C T intronic CYP4A22 NA NA NA ncRNA_intronic ENSG00000225506 NA NA NA NA NA 1p33 NA Name=CTCF Name=11 NA rs10890469 0.17 0.17 0.173 0.195288 0.1153 0.247 0.134 0.1974 0.2648 0.12 0.26 0.13 0.2 0.154 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633062 NA NA 0.113721 0.206083 NA 0.116 NA 5.9503123 1057 7 7217867 7217867 G A intergenic LOC100131257,C1GALT1 dist=81450;dist=4379 NA NA ncRNA_exonic ENSG00000244167 NA NA NA NA NA 7p22.1 NA Name=STAT3,GATA3_(SC-268) Name=23 NA rs55637396 0.08 0.08 0.087 0.0716853 0.0497 0.1677 0.0389 0.0635 0.0297 0.05 0.17 0.04 0.05 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175922 NA NA NA NA NA 0.13 NA 5.9503 1057 11 74457051 74457051 C T intergenic CHRDL2,RNF169 dist=14865;dist=2862 NA NA ncRNA_exonic ENSG00000227615 NA NA NA Score=715;Name=lod=1072 NA 11q13.4 NA Name=CTCF_(SC-5916) NA NA rs11543335 0.02 0.02 0.017 0.0247604 0.0497 0.001 0.0231 NA 0.0583 0.05 NA 0.02 NA NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.169948 2.169948 NA NA NA NA 0.007 NA 5.9503 1057 17 18872521 18872521 A G intronic SLC5A10 NA NA NA UTR3 ENSG00000188522 ENST00000388995:c.*2151T>C NA NA NA NA 17p11.2 NA Name=GABP,Pol2 Name=7 NA rs2074273 0.1 0.1 0.094 0.148562 0.0656 0.0962 0.0476 0.1672 0.3344 0.05 0.11 0.06 0.18 0.0999 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982932 NA NA 0.051628 0.137313 NA 0.101 NA 5.9495387 1057 17 64961276 64961276 C A intronic CACNG4 NA NA NA intronic ENSG00000075461 NA NA NA NA NA 17q24.2 NA Name=HA-E2F1,c-Myc Name=16 NA rs112802203 0.46 0.46 0.096 NA NA NA NA NA NA 0.46 0.49 0.48 0.41 0.0508 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066259 NA NA NA NA NA NA NA 5.9492 1057 8 113364696 113364696 A G exonic CSMD3 NA synonymous SNV CSMD3:NM_052900:exon38:c.T5892C:p.Y1964Y,CSMD3:NM_198123:exon39:c.T6204C:p.Y2068Y,CSMD3:NM_198124:exon40:c.T6084C:p.Y2028Y exonic ENSG00000164796 NA synonymous SNV ENSG00000164796:ENST00000339701:exon24:c.T4014C:p.Y1338Y,ENSG00000164796:ENST00000352409:exon37:c.T5994C:p.Y1998Y,ENSG00000164796:ENST00000455883:exon38:c.T5892C:p.Y1964Y,ENSG00000164796:ENST00000297405:exon39:c.T6204C:p.Y2068Y,ENSG00000164796:ENST00000343508:exon40:c.T6084C:p.Y2028Y Score=673;Name=lod=727 NA 8q23.3 NA NA NA NA rs11778209 0.26 0.26 0.247 0.2502 0.2435 0.3938 0.3156 0.0673 0.3098 0.24 0.42 0.32 0.08 0.2513 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997699 NA NA 0.222843 0.084657 NA 0.268 NA 5.9490236 1057 1 200867492 200867492 C G exonic C1orf106 NA synonymous SNV C1orf106:NM_018265:exon2:c.C261G:p.P87P exonic ENSG00000163362 NA synonymous SNV ENSG00000163362:ENST00000367342:exon2:c.C219G:p.P73P NA NA 1q32.1 NA NA Name=20 NA rs2271018 0.21 0.21 0.169 0.198283 0.2495 0.1577 0.3112 0.115 0.2198 0.26 0.17 0.26 0.12 0.2327 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749136 NA NA 0.235465 0.155016 NA 0.275 NA 5.9490016 1057 5 1880865 1880865 T C exonic IRX4 NA synonymous SNV IRX4:NM_016358:exon3:c.A381G:p.P127P exonic ENSG00000113430 NA synonymous SNV ENSG00000113430:ENST00000231357:exon3:c.A381G:p.P127P,ENSG00000113430:ENST00000508261:exon3:c.A381G:p.P127P,ENSG00000113430:ENST00000511126:exon3:c.A381G:p.P127P,ENSG00000113430:ENST00000505790:exon4:c.A381G:p.P127P,ENSG00000113430:ENST00000513692:exon4:c.A381G:p.P127P Score=511;Name=lod=159 NA 5p15.33 NA NA NA NA rs4975753 0.29 0.29 0.263 0.297324 0.2276 0.3313 0.3184 0.3404 0.2607 0.23 0.31 0.29 0.35 0.2593 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080935 NA NA 0.231512 0.295733 NA 0.362 NA 5.9482546 1057 17 71410891 71410891 C T exonic SDK2 NA synonymous SNV SDK2:NM_001144952:exon18:c.G2376A:p.T792T exonic ENSG00000069188 NA synonymous SNV ENSG00000069188:ENST00000388726:exon18:c.G2376A:p.T792T,ENSG00000069188:ENST00000392650:exon18:c.G2376A:p.T792T NA NA 17q25.1 Score=863;Name=V$RFX1_02 NA NA NA rs12386051 0.27 0.27 0.278 0.2498 0.2495 0.4831 0.2205 0.0552 0.2935 0.25 0.49 0.22 0.07 0.2413 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666795 NA NA 0.227674 0.103041 ID=COSM437277;OCCURENCE=1(breast) 0.268 NA 5.9481926 1057 6 32188297 32188297 G C exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon6:c.C1044G:p.G348G exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon6:c.C1044G:p.G348G Score=517;Name=lod=168 NA 6p21.32 NA NA NA NA rs423023 0.4 0.4 NA 0.320288 0.3996 0.2976 0.3372 0.2413 0.3569 0.44 0.41 0.42 0.32 0.3189 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228849 NA NA NA NA NA 0.355 NA 5.9481666 1057 2 192160875 192160875 C T exonic MYO1B NA synonymous SNV MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y exonic ENSG00000128641 NA synonymous SNV ENSG00000128641:ENST00000392316:exon2:c.C174T:p.Y58Y,ENSG00000128641:ENST00000304164:exon3:c.C174T:p.Y58Y,ENSG00000128641:ENST00000339514:exon3:c.C174T:p.Y58Y,ENSG00000128641:ENST00000392318:exon3:c.C174T:p.Y58Y,ENSG00000128641:ENST00000418908:exon3:c.C174T:p.Y58Y,ENSG00000128641:ENST00000420448:exon3:c.C174T:p.Y58Y,ENSG00000128641:ENST00000438652:exon3:c.C174T:p.Y58Y,ENSG00000128641:ENST00000451437:exon3:c.C174T:p.Y58Y Score=381;Name=lod=47 NA 2q32.3 NA NA Name=5 NA rs4853575 0.54 0.54 0.521 0.509385 0.5835 0.6567 0.5865 0.3321 0.4663 0.58 0.66 0.53 0.36 0.5578 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.1399 NA NA 0.577558 0.374489 NA 0.428 NA 5.9478086 1057 10 71010375 71010375 C T exonic HKDC1 NA synonymous SNV HKDC1:NM_025130:exon12:c.C1803T:p.F601F exonic ENSG00000156510 NA synonymous SNV ENSG00000156510:ENST00000354624:exon12:c.C1803T:p.F601F,ENSG00000156510:ENST00000395086:exon12:c.C1803T:p.F601F Score=494;Name=lod=136 NA 10q22.1 NA NA NA NA rs5030948 0.16 0.16 0.135 0.13758 0.2674 0.0794 0.1945 0.0136 0.1912 0.27 0.11 0.22 0.02 0.2097 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435011 NA NA 0.24186 0.051294 NA 0.167 NA 5.9477066 1057 5 178562967 178562967 G A exonic ADAMTS2 NA synonymous SNV ADAMTS2:NM_014244:exon13:c.C2028T:p.D676D exonic ENSG00000087116 NA synonymous SNV ENSG00000087116:ENST00000251582:exon13:c.C2028T:p.D676D Score=376;Name=lod=45 NA 5q35.3 NA NA NA NA rs1972715 0.2 0.2 0.2 0.196486 0.2594 0.0992 0.2291 0.2481 0.1391 0.25 0.09 0.23 0.23 0.2234 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422984 1.422984 NA 0.236628 0.246482 NA 0.203 NA 5.9472386 1057 6 29895111 29895111 C T intergenic HCG4B,HLA-A dist=1683;dist=15136 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=c-Myc,HEY1,ELF1_(SC-631),TAF1,Pol2,YY1 Name=99 NA rs9259830 0.05 0.05 0.05 0.0523163 0.0537 0.0486 0.0346 0.056 0.0624 0.06 0.06 0.04 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746637 NA NA NA NA NA 0.022 NA 5.9463 1057 3 126268918 126268918 G A exonic C3orf22 NA synonymous SNV C3orf22:NM_152533:exon4:c.C219T:p.L73L exonic ENSG00000180697 NA synonymous SNV ENSG00000180697:ENST00000318225:exon4:c.C219T:p.L73L NA NA 3q21.3 NA Name=CTCF NA NA rs869463 0.21 0.21 0.176 0.174321 0.2485 0.255 0.2695 0.0356 0.135 0.26 0.26 0.27 0.03 0.2329 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518302 NA NA 0.23907 0.080572 NA 0.239 NA 5.9461966 1057 11 18108492 18108492 T C exonic SAAL1 NA synonymous SNV SAAL1:NM_138421:exon9:c.A963G:p.T321T exonic ENSG00000166788 NA synonymous SNV ENSG00000166788:ENST00000531751:exon6:c.A630G:p.T210T,ENSG00000166788:ENST00000300013:exon9:c.A963G:p.T321T,ENSG00000166788:ENST00000524803:exon9:c.A963G:p.T321T,ENSG00000166788:ENST00000529318:exon9:c.A963G:p.T321T,ENSG00000166788:ENST00000531581:exon9:c.A963G:p.T321T Score=516;Name=lod=166 NA 11p15.1 NA NA NA NA rs12363226 0.14 0.14 0.126 0.14357 0.2604 0.1349 0.1556 0.0182 0.1933 0.24 0.09 0.19 0.02 0.2092 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253591 1.253591 NA 0.251106 0.053182 NA 0.188 NA 5.9459606 1057 7 37890316 37890316 C T exonic NME8 NA synonymous SNV NME8:NM_016616:exon5:c.C177T:p.D59D exonic ENSG00000086288 NA synonymous SNV ENSG00000086288:ENST00000440017:exon4:c.C177T:p.D59D,ENSG00000086288:ENST00000199447:exon5:c.C177T:p.D59D Score=321;Name=lod=27 NA 7p14.1 NA NA NA NA rs2598044 0.27 0.27 0.283 0.245208 0.2475 0.1815 0.2161 0.4092 0.1074 0.24 0.21 0.22 0.45 0.2302 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779293 NA NA 0.243488 0.368134 ID=COSM1450587;OCCURENCE=1(large_intestine) 0.297 NA 5.9454786 1057 20 60509209 60509209 C T exonic CDH4 NA synonymous SNV CDH4:NM_001252338:exon14:c.C2364T:p.G788G,CDH4:NM_001252339:exon14:c.C2253T:p.G751G,CDH4:NM_001794:exon15:c.C2475T:p.G825G exonic ENSG00000179242 NA synonymous SNV ENSG00000179242:ENST00000543233:exon14:c.C2253T:p.G751G,ENSG00000179242:ENST00000360469:exon15:c.C2475T:p.G825G NA NA 20q13.33 Score=709;Name=V$HOX13_01 NA NA NA rs3753045 0.17 0.17 0.171 0.161342 0.2535 0.1498 0.1988 0.0287 0.2311 0.25 0.14 0.22 0.04 0.2179 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167288 NA NA 0.249884 0.064714 ID=COSM1412878;OCCURENCE=1(large_intestine) 0.145 NA 5.9453826 1057 6 29894569 29894569 T C intergenic HCG4B,HLA-A dist=1141;dist=15678 NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,NFKB,AP-2gamma Name=99 NA rs9259824 0.05 0.05 0.058 0.0529153 0.0547 0.0506 0.0346 0.0567 0.0613 0.06 0.06 0.04 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070174 NA NA NA NA NA 0.014 NA 5.9453 1057 6 29895228 29895228 G T intergenic HCG4B,HLA-A dist=1800;dist=15019 NA NA ncRNA_exonic ENSG00000230795 NA NA NA Score=243;Name=lod=13 NA 6p22.1 NA Name=c-Myc,Pol2 NA NA rs9259831 0.05 0.05 0.06 0.0529153 0.0547 0.0506 0.0346 0.0567 0.0613 0.06 0.06 0.04 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942061 NA NA NA NA NA 0.022 NA 5.9453 1057 4 39116911 39116911 T C exonic KLHL5 NA synonymous SNV KLHL5:NM_199039:exon9:c.T1989C:p.T663T,KLHL5:NM_001171654:exon10:c.T1611C:p.T537T,KLHL5:NM_015990:exon10:c.T2172C:p.T724T,KLHL5:NM_001007075:exon11:c.T2034C:p.T678T exonic ENSG00000109790 NA synonymous SNV ENSG00000109790:ENST00000261426:exon9:c.T1989C:p.T663T,ENSG00000109790:ENST00000359687:exon10:c.T2172C:p.T724T,ENSG00000109790:ENST00000381930:exon10:c.T2172C:p.T724T,ENSG00000109790:ENST00000504108:exon10:c.T2172C:p.T724T,ENSG00000109790:ENST00000508137:exon10:c.T1611C:p.T537T,ENSG00000109790:ENST00000261425:exon11:c.T2034C:p.T678T NA NA 4p14 NA NA NA NA rs3733276 0.54 0.54 0.506 0.492612 0.5765 0.495 0.5965 0.3411 0.5348 0.59 0.52 0.63 0.41 0.5592 0.63 . . . . . . . . 0.000 P . . . . -0.929 T 0.000 T . 0.708 7.776 -3.44 -0.927 -0.788 0.633 0.708499 NA NA 0.58593 0.391512 NA 0.529 NA 5.9450366 1058 3 78717343 78717343 C T exonic ROBO1 NA synonymous SNV ROBO1:NM_001145845:exon12:c.G1632A:p.S544S,ROBO1:NM_133631:exon12:c.G1632A:p.S544S,ROBO1:NM_002941:exon13:c.G1740A:p.S580S exonic ENSG00000169855 NA synonymous SNV ENSG00000169855:ENST00000495961:exon3:c.G351A:p.S117S,ENSG00000169855:ENST00000436010:exon11:c.G1623A:p.S541S,ENSG00000169855:ENST00000467549:exon12:c.G1632A:p.S544S,ENSG00000169855:ENST00000495273:exon12:c.G1632A:p.S544S,ENSG00000169855:ENST00000464233:exon13:c.G1740A:p.S580S Score=536;Name=lod=201 NA 3p12.3 NA NA NA NA rs2271151 0.29 0.29 0.328 0.282548 0.2485 0.2192 0.2435 0.4297 0.2117 0.26 0.24 0.24 0.42 0.2342 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02299 NA NA 0.239024 0.369048 NA 0.29 NA 5.9449426 1058 11 108384207 108384207 C T exonic EXPH5 NA nonsynonymous SNV EXPH5:NM_015065:exon6:c.G2027A:p.S676N exonic ENSG00000110723 NA nonsynonymous SNV ENSG00000110723:ENST00000443411:exon3:c.G1463A:p.S488N,ENSG00000110723:ENST00000533052:exon3:c.G1463A:p.S488N,ENSG00000110723:ENST00000265843:exon6:c.G2027A:p.S676N,ENSG00000110723:ENST00000428840:exon6:c.G1799A:p.S600N,ENSG00000110723:ENST00000526312:exon6:c.G1799A:p.S600N,ENSG00000110723:ENST00000525344:exon7:c.G2006A:p.S669N NA NA 11q22.3 NA NA NA NA rs2846412 0.62 0.62 0.623 0.641174 0.4384 0.8542 0.5533 0.6982 0.6155 0.44 0.88 0.49 0.68 0.5286 0.88 1 T 0.0 B 0.0 B 0.213 N 1.000 P -1.155 N 4.38 T -1.021 T 0.000 T 0.033 -2.112 0.006 1.14 -0.041 0.673 9.569 -2.111572 NA 0.86 0.42194 0.657201 NA 0.442 NA 5.9443934 1058 5 6607135 6607135 C T intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA Name=Max,c-Myc Name=4 NA rs114937174 NA NA 0.062 0.0634984 0.0557 0.1954 0.0403 0.0045 0.0317 NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855369 NA NA NA NA NA 0.036 NA 5.9443 1058 11 12785718 12785718 T C intronic TEAD1 NA NA NA intronic ENSG00000187079 NA NA NA Score=700;Name=lod=936 NA 11p15.2 NA NA Name=2 NA rs72858140 0.03 0.03 0.015 0.0179712 0.0557 0.001 0.0245 0.0015 0.0143 0.06 NA 0.03 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.552607 2.552607 NA NA NA NA 0.087 NA 5.9443 1058 9 27205021 27205021 G A exonic TEK NA synonymous SNV TEK:NM_000459:exon14:c.G2322A:p.R774R exonic ENSG00000120156 NA synonymous SNV ENSG00000120156:ENST00000519097:exon12:c.G1881A:p.R627R,ENSG00000120156:ENST00000406359:exon13:c.G2193A:p.R731R,ENSG00000120156:ENST00000380036:exon14:c.G2322A:p.R774R Score=545;Name=lod=219 NA 9p21.2 NA NA NA NA rs542913 0.17 0.17 0.154 0.150958 0.2525 0.122 0.1599 0.0764 0.1708 0.25 0.12 0.2 0.09 0.2114 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168705 NA NA 0.258488 0.119156 NA 0.181 NA 5.9442786 1058 16 786444 786444 T G intronic NARFL NA NA NA intronic ENSG00000103245 NA NA NA NA NA 16p13.3 NA Name=YY1_(C-20),YY1 Name=6 NA rs57510736 0.02 0.02 0.016 0.0327476 0.0129 NA 0.0115 0.0408 0.091 0.01 NA 0.02 0.07 0.0251 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486242 NA NA 0.018144 0.038654 NA 0.022 NA 5.943856 1058 1 32687777 32687777 A G intronic TMEM234 NA NA NA intronic ENSG00000084623,ENSG00000160055 NA NA NA NA NA 1p35.1 NA Name=ZBTB7A_(SC-34508),BAF155,Sin3Ak-20,Egr-1,PU.1 Name=148 NA rs17523023 0.16 0.16 0.121 0.208067 0.0567 0.2302 0.2305 0.236 0.2873 0.06 0.22 0.14 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031202 NA NA NA NA NA 0.174 NA 5.9433 1058 3 149182668 149182668 A C intergenic TM4SF1,TM4SF4 dist=87100;dist=9700 NA NA ncRNA_exonic ENSG00000239408 NA NA NA NA NA 3q25.1 NA Name=PU.1 Name=4 NA rs59595447 0.05 0.05 0.051 0.048722 0.0567 0.0685 0.0591 0.0121 0.0624 0.07 0.08 0.04 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.566344 1.566344 NA NA NA NA 0.094 NA 5.9433 1058 3 36422216 36422216 T C exonic STAC NA synonymous SNV STAC:NM_003149:exon1:c.T81C:p.S27S exonic ENSG00000144681 NA synonymous SNV ENSG00000144681:ENST00000273183:exon1:c.T81C:p.S27S,ENSG00000144681:ENST00000427486:exon1:c.T81C:p.S27S,ENSG00000144681:ENST00000434649:exon1:c.T81C:p.S27S,ENSG00000144681:ENST00000457375:exon1:c.T81C:p.S27S Score=593;Name=lod=344 NA 3p22.3 NA NA NA NA rs73052248 0.2 0.2 0.189 0.173123 0.2475 0.1994 0.2579 0.031 0.2014 0.26 0.23 0.25 0.04 0.2458 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.134849 2.134849 NA 0.230124 0.060537 ID=COSM299849;OCCURENCE=1(large_intestine) 0.152 NA 5.9432426 1058 12 52863621 52863621 T G exonic KRT6C NA synonymous SNV KRT6C:NM_173086:exon7:c.A1257C:p.A419A exonic ENSG00000170465 NA synonymous SNV ENSG00000170465:ENST00000252250:exon7:c.A1257C:p.A419A Score=401;Name=lod=57 NA 12q13.13 Score=756;Name=V$ROAZ_01 NA NA NA rs382367 0.52 0.52 0.484 0.486022 0.6074 0.6369 0.611 0.2617 0.4202 0.55 0.7 0.6 0.23 0.5413 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652469 NA NA 0.575017 0.289151 NA 0.623 NA 5.9429496 1058 19 43922061 43922061 A G exonic TEX101 NA synonymous SNV TEX101:NM_001130011:exon5:c.A423G:p.P141P,TEX101:NM_031451:exon8:c.A477G:p.P159P exonic ENSG00000131126 NA synonymous SNV ENSG00000131126:ENST00000253435:exon5:c.A477G:p.P159P,ENSG00000131126:ENST00000598265:exon5:c.A423G:p.P141P,ENSG00000131126:ENST00000602198:exon7:c.A477G:p.P159P Score=355;Name=lod=37 NA 19q13.31 NA NA NA NA rs3816438 0.28 0.28 0.253 0.28754 0.2366 0.6091 0.2839 0.0287 0.3609 0.23 0.56 0.25 0.03 0.2591 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602295 NA NA 0.228372 0.05833 NA 0.196 NA 5.9425946 1058 3 149182576 149182576 T G intergenic TM4SF1,TM4SF4 dist=87008;dist=9792 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=483;Name=lod=122 NA 3q25.1 NA Name=GATA3_(SC-268) NA NA rs368116905 NA NA NA 0.0489217 0.0577 0.0685 0.0591 0.0121 0.0624 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.360513 1.360513 NA NA NA NA NA NA 5.9423 1058 3 186507757 186507757 G A UTR3 RFC4 NM_002916:c.*1C>T,NM_181573:c.*1C>T NA NA UTR3 ENSG00000163918 ENST00000433496:c.*1C>T,ENST00000392481:c.*1C>T,ENST00000296273:c.*1C>T,ENST00000417876:c.*78C>T NA NA NA NA 3q27.3 NA Name=HEY1,CCNT2,Pol2-4H8,TAF7_(SQ-8),Sin3Ak-20,Pol2(phosphoS2),Pol2 Name=139 NA rs1047148 0.09 0.09 0.083 0.0928514 0.1312 0.1429 0.0677 0.0076 0.135 0.13 0.12 0.08 0.01 0.1236 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996224 NA NA 0.136395 0.03064 NA 0.109 NA 5.9421384 1058 16 23360199 23360199 T C exonic SCNN1B NA synonymous SNV SCNN1B:NM_000336:exon2:c.T279C:p.P93P exonic ENSG00000168447 NA synonymous SNV ENSG00000168447:ENST00000564275:exon1:c.T279C:p.P93P,ENSG00000168447:ENST00000568085:exon1:c.T279C:p.P93P,ENSG00000168447:ENST00000568923:exon1:c.T279C:p.P93P,ENSG00000168447:ENST00000343070:exon2:c.T279C:p.P93P,ENSG00000168447:ENST00000307331:exon3:c.T414C:p.P138P NA NA 16p12.2 NA Name=Rad21,CTCF,RXRA,CTCF_(SC-5916) Name=9 NA rs238547 0.74 0.74 0.764 0.788538 0.5408 0.9831 0.4582 0.969 0.8333 0.53 0.98 0.49 0.97 0.6355 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099855 NA NA 0.548488 0.885071 NA 0.659 NA 5.9418786 1058 10 30998371 30998371 T C intergenic LYZL2,ZNF438 dist=79724;dist=135194 NA NA ncRNA_exonic ENSG00000234814 NA NA NA NA NA 10p11.23 NA Name=CTCF_(SC-5916),CTCF Name=4 NA rs12258064 0.07 0.07 0.055 0.0820687 0.0209 0.0347 0.0476 0.2163 0.0368 0.02 0.03 0.05 0.19 0.0374 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.897632 NA NA NA NA NA 0.116 NA 5.9417 1058 16 24046655 24046655 G T intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 Score=862;Name=V$ELK1_01 NA Name=4 NA rs11643225 0.04 0.04 0.038 0.0365415 0.0586 0.0129 0.0403 0.0363 0.0358 0.06 0.02 0.04 0.04 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020563 NA NA NA NA NA 0.036 NA 5.9414 1058 18 34182834 34182834 G A intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA Name=CEBPB Name=8 NA rs9953875 0.09 0.09 0.09 0.0930511 0.0586 0.0962 0.0519 0.1475 0.0808 0.06 0.09 0.06 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787149 NA NA NA NA NA 0.123 NA 5.9414 1058 11 59211421 59211421 C T exonic OR5A1 NA synonymous SNV OR5A1:NM_001004728:exon1:c.C780T:p.F260F exonic ENSG00000172320 NA synonymous SNV ENSG00000172320:ENST00000302030:exon1:c.C780T:p.F260F Score=435;Name=lod=78 NA 11q12.1 NA NA NA NA rs17591107 0.16 0.16 0.15 0.125799 0.2525 0.1111 0.1326 0.0242 0.1431 0.27 0.12 0.16 0.04 0.2093 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672634 NA NA 0.263562 0.05702 ID=COSM1178423;OCCURENCE=1(prostate) 0.094 NA 5.9413046 1058 19 8176569 8176569 G A exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon31:c.C4047T:p.C1349C exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon31:c.C4047T:p.C1349C,ENSG00000142449:ENST00000600128:exon32:c.C4047T:p.C1349C,ENSG00000142449:ENST00000601739:exon32:c.C4047T:p.C1349C Score=450;Name=lod=90 NA 19p13.2 NA NA NA NA rs35306870 0.29 0.29 0.271 0.256989 0.2346 0.4226 0.3876 0.1331 0.184 0.24 0.44 0.35 0.16 0.2492 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864114 NA NA 0.241628 0.171357 ID=COSM1397730;OCCURENCE=1(large_intestine) 0.21 NA 5.9412386 1058 3 78700901 78700901 G T exonic ROBO1 NA synonymous SNV ROBO1:NM_001145845:exon18:c.C2685A:p.T895T,ROBO1:NM_133631:exon18:c.C2685A:p.T895T,ROBO1:NM_002941:exon19:c.C2793A:p.T931T exonic ENSG00000169855 NA synonymous SNV ENSG00000169855:ENST00000436010:exon17:c.C2676A:p.T892T,ENSG00000169855:ENST00000467549:exon18:c.C2685A:p.T895T,ENSG00000169855:ENST00000495273:exon18:c.C2685A:p.T895T,ENSG00000169855:ENST00000464233:exon19:c.C2793A:p.T931T Score=366;Name=lod=41 NA 3p12.3 NA NA NA NA rs6795556 0.23 0.23 0.252 0.216653 0.2594 0.2222 0.2161 0.1657 0.2362 0.26 0.24 0.19 0.19 0.2246 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253122 NA NA 0.241959 0.169638 NA 0.196 NA 5.9407076 1058 19 46815373 46815373 C T intronic HIF3A NA NA NA intronic ENSG00000124440 NA NA NA NA NA 19q13.32 NA NA NA NA rs36063219 0.01 0.01 0.011 0.00738818 0.0268 NA 0.0086 NA 0.0041 0.02 NA 0.01 NA 0.0149 0.02 0 D . . . . . . 1.000 N . . . . -1.004 T 0.056 T . -0.007 3.978 1.01 0.448 0.430 5.036 -0.006962 NA NA 0.017791 0.002497 NA NA NA 5.940509 1058 11 15096436 15096436 T C intronic CALCB NA NA NA intronic ENSG00000175868 NA NA NA NA NA 11p15.2 NA Name=CTCF,ELF1_(SC-631),TCF4,KAP1,HA-E2F1 Name=137 NA rs75461927 0.03 0.03 0.025 0.023762 0.0596 NA 0.0216 0.0023 0.0419 0.06 NA 0.03 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.506624 1.506624 NA NA NA NA 0.014 NA 5.9404 1058 4 167656073 167656073 C T exonic SPOCK3 NA synonymous SNV SPOCK3:NM_001251967:exon8:c.G1016A:p.X339X,SPOCK3:NM_001204355:exon9:c.G1022A:p.X341X,SPOCK3:NM_001204353:exon10:c.G950A:p.X317X,SPOCK3:NM_001204354:exon10:c.G1034A:p.X345X,SPOCK3:NM_001204356:exon10:c.G1181A:p.X394X,SPOCK3:NM_001040159:exon11:c.G1301A:p.X434X,SPOCK3:NM_001204352:exon12:c.G1157A:p.X386X,SPOCK3:NM_016950:exon12:c.G1310A:p.X437X exonic ENSG00000196104 NA synonymous SNV ENSG00000196104:ENST00000541637:exon7:c.G1016A:p.X339X,ENSG00000196104:ENST00000512681:exon8:c.G1016A:p.X339X,ENSG00000196104:ENST00000534949:exon8:c.G1022A:p.X341X,ENSG00000196104:ENST00000535728:exon9:c.G914A:p.X305X,ENSG00000196104:ENST00000510741:exon10:c.G1181A:p.X394X,ENSG00000196104:ENST00000511269:exon10:c.G1301A:p.X434X,ENSG00000196104:ENST00000541354:exon10:c.G950A:p.X317X,ENSG00000196104:ENST00000357545:exon11:c.G1301A:p.X434X,ENSG00000196104:ENST00000504953:exon11:c.G1301A:p.X434X,ENSG00000196104:ENST00000357154:exon12:c.G1310A:p.X437X,ENSG00000196104:ENST00000421836:exon12:c.G1157A:p.X386X,ENSG00000196104:ENST00000502330:exon12:c.G1310A:p.X437X,ENSG00000196104:ENST00000506886:exon12:c.G1310A:p.X437X,ENSG00000196104:ENST00000511531:exon12:c.G1310A:p.X437X Score=637;Name=lod=518 NA 4q32.3 NA NA NA NA rs1057377 0.12 0.12 0.115 0.128994 0.2565 0.001 0.1167 0.0113 0.2975 0.25 NA 0.15 0.02 0.2038 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.356121 NA NA 0.266279 0.040626 NA 0.072 NA 5.9400876 1058 2 73829372 73829372 C T exonic ALMS1 NA synonymous SNV ALMS1:NM_015120:exon20:c.C12172T:p.L4058L exonic ENSG00000116127 NA synonymous SNV ENSG00000116127:ENST00000409009:exon19:c.C12046T:p.L4016L,ENSG00000116127:ENST00000264448:exon20:c.C12172T:p.L4058L Score=556;Name=lod=242 NA 2p13.1 NA NA NA NA rs1052162 0.32 0.32 0.351 0.341653 0.2276 0.0089 0.3804 0.8011 0.1534 0.24 0.01 0.33 0.81 0.2636 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.171612 NA NA 0.235698 0.70177 NA 0.399 NA 5.9397686 1058 1 22214127 22214127 A G exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon8:c.T744C:p.L248L exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000412328:exon5:c.T512C:p.L171S NA NA 1p36.12 NA NA NA NA rs2229478 0.52 0.52 0.487 0.536342 0.3191 0.6498 0.5793 0.7065 0.3824 0.34 0.65 0.55 0.64 0.4175 0.65 0.54 T 0.001 B 0.001 B 0.682 N 1.000 P . . 0.45 T -0.946 T 0.000 T . 1.311 10.3 0.117 -0.307 -0.260 0.623 1.311032 1.311032 0 0.323721 0.629596 NA 0.514 NA 5.939679 1058 5 140890770 140890770 G A UTR3 PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGC3,PCDHGC4,PCDHGC5 NM_018912:c.*30G>A;NM_018913:c.*30G>A;NM_032092:c.*30G>A,NM_018914:c.*30G>A;NM_003735:c.*30G>A;NM_018915:c.*30G>A;NM_018916:c.*30G>A;NM_018917:c.*30G>A;NM_018918:c.*30G>A;NM_018919:c.*30G>A;NM_018920:c.*30G>A;NM_032088:c.*30G>A;NM_018921:c.*30G>A;NM_018922:c.*30G>A;NM_018923:c.*30G>A;NM_018924:c.*30G>A;NM_003736:c.*30G>A;NM_018925:c.*30G>A;NM_018926:c.*30G>A;NM_018927:c.*30G>A;NM_002588:c.*30G>A,NM_032403:c.*30G>A;NM_018928:c.*30G>A;NM_018929:c.*30G>A NA NA UTR3 ENSG00000081853,ENSG00000204956,ENSG00000240184,ENSG00000240764,ENSG00000242419,ENSG00000253159,ENSG00000253305,ENSG00000253485,ENSG00000253537,ENSG00000253731,ENSG00000253767,ENSG00000253846,ENSG00000253873,ENSG00000253910,ENSG00000253953,ENSG00000254122,ENSG00000254221,ENSG00000254245,ENSG00000261934,ENSG00000262209,ENSG00000262576 ENST00000394576:c.*30G>A;ENST00000517417:c.*30G>A;ENST00000308177:c.*30G>A;ENST00000252087:c.*30G>A;ENST00000306593:c.*30G>A;ENST00000252085:c.*30G>A;ENST00000520790:c.*30G>A;ENST00000518069:c.*30G>A;ENST00000518325:c.*30G>A;ENST00000517434:c.*30G>A;ENST00000398604:c.*30G>A;ENST00000398610:c.*30G>A;ENST00000398587:c.*30G>A;ENST00000522605:c.*30G>A;ENST00000519479:c.*30G>A;ENST00000398594:c.*30G>A;ENST00000523390:c.*30G>A;ENST00000253812:c.*30G>A;ENST00000573521:c.*30G>A;ENST00000576222:c.*30G>A;ENST00000571252:c.*30G>A NA NA Score=567;Name=lod=269 NA 5q31.3 NA Name=ELF1_(SC-631),Pol2-4H8,Pol2 NA NA rs2233613 0.12 0.12 0.123 0.129393 0.1143 0.1062 0.1787 0.121 0.1452 0.13 0.12 0.16 0.08 0.1481 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064855 NA NA 0.131285 0.125798 NA 0.159 NA 5.9396484 1058 7 76111835 76111835 G A exonic DTX2 NA synonymous SNV DTX2:NM_001102596:exon2:c.G279A:p.R93R,DTX2:NM_001102595:exon3:c.G279A:p.R93R,DTX2:NM_001102594:exon4:c.G279A:p.R93R,DTX2:NM_020892:exon5:c.G279A:p.R93R exonic ENSG00000091073 NA synonymous SNV ENSG00000091073:ENST00000446820:exon2:c.G279A:p.R93R,ENSG00000091073:ENST00000413936:exon3:c.G279A:p.R93R,ENSG00000091073:ENST00000446600:exon3:c.G6A:p.R2R,ENSG00000091073:ENST00000429179:exon4:c.G279A:p.R93R,ENSG00000091073:ENST00000430490:exon4:c.G279A:p.R93R,ENSG00000091073:ENST00000307569:exon5:c.G279A:p.R93R,ENSG00000091073:ENST00000324432:exon5:c.G279A:p.R93R,ENSG00000091073:ENST00000423646:exon5:c.G279A:p.R93R NA NA 7q11.23 Score=835;Name=V$GRE_C NA NA NA rs4236506 0.22 0.22 0.213 0.225639 0.2495 0.2302 0.2767 0.1256 0.2955 0.25 0.22 0.27 0.14 0.2463 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879087 NA NA 0.231279 0.145256 ID=COSM1452117;OCCURENCE=2(large_intestine) 0.08 NA 5.9395876 1058 7 142119831 142119831 G A intergenic LOC730441,MTRNR2L6 dist=147763;dist=254300 NA NA exonic ENSG00000253291 NA synonymous SNV ENSG00000253291:ENST00000390377:exon2:c.C336T:p.A112A Score=304;Name=lod=23 NA 7q34 Score=777;Name=V$MIF1_01 NA Name=10 NA rs361390 0.51 0.51 0.568 0.490016 0.5199 0.7639 0.4813 0.1815 0.6002 0.53 0.76 0.45 0.22 0.5151 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577595 NA NA 0.526222 0.230221 NA 0.457 NA 5.938778 1058 16 30393660 30393660 G A exonic SEPT1 NA synonymous SNV SEPT1:NM_052838:exon3:c.C171T:p.A57A exonic ENSG00000180096,ENSG00000270466 NA nonsynonymous SNV ENSG00000180096:ENST00000568577:exon2:c.C97T:p.P33S Score=519;Name=lod=171 NA 16p11.2 Score=682;Name=V$PPARG_02 NA NA NA rs4787643 0.78 0.78 0.757 0.773163 0.673 0.9127 0.7767 0.7693 0.7352 0.69 0.91 0.78 0.75 0.7138 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.46307 1.46307 NA 0.674651 0.7533 NA 0.703 NA 5.938549 1058 19 11319491 11319491 G A exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon39:c.C4959T:p.N1653N exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon25:c.C2976T:p.N992N,ENSG00000130158:ENST00000294618:exon39:c.C4959T:p.N1653N Score=479;Name=lod=118 NA 19p13.2 Score=876;Name=V$MYCMAX_02 NA NA NA rs8409 0.48 0.48 0.476 0.441693 0.6044 0.4633 0.4741 0.264 0.4693 0.6 0.47 0.52 0.27 0.5387 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77838 NA NA 0.585031 0.300328 NA 0.58 NA 5.9385356 1058 19 52192669 52192669 G T intergenic SIGLEC14,MIR99B dist=42537;dist=3196 NA NA ncRNA_intronic ENSG00000269959 NA NA NA NA NA 19q13.41 NA Name=Pol2,ZBTB7A_(SC-34508) Name=4 NA rs78241354 0.07 0.07 0.054 0.0708866 0.0616 0.0833 0.0447 0.0477 0.1176 0.06 0.09 0.06 0.07 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50811 NA NA NA NA NA 0.007 NA 5.9384 1058 2 201736112 201736112 T C UTR3 PPIL3 NM_130906:c.*6A>G,NM_032472:c.*6A>G NA NA UTR3 ENSG00000240344 ENST00000286175:c.*6A>G,ENST00000392283:c.*6A>G,ENST00000415562:c.*277A>G,ENST00000409264:c.*6A>G,ENST00000409361:c.*6A>G,ENST00000409449:c.*6A>G NA NA NA NA 2q33.1 NA Name=CEBPB,JunD Name=26 NA rs11892119 0.17 0.17 0.181 0.175919 0.1441 0.0139 0.1268 0.4516 0.0378 0.15 0.0035 0.12 0.41 0.123 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.696837 2.696837 NA 0.127907 0.37222 NA 0.196 NA 5.9383264 1058 11 117077034 117077034 A G exonic PCSK7 NA synonymous SNV PCSK7:NM_004716:exon17:c.T2037C:p.T679T exonic ENSG00000160613 NA synonymous SNV ENSG00000160613:ENST00000320934:exon17:c.T2037C:p.T679T NA NA 11q23.3 NA NA Name=5 NA rs28590104 0.48 0.48 0.458 0.5623 0.3091 0.6538 0.4308 0.6989 0.637 0.3 0.64 0.35 0.67 0.4193 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091596 NA NA NA NA NA 0.377 NA 5.9382666 1058 12 124181049 124181049 C T intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA Name=GATA3_(SC-268) Name=10 NA rs7298440 0.27 0.27 0.263 0.272364 0.3588 0.0565 0.2291 0.3979 0.2669 0.36 0.05 0.25 0.39 0.3255 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2449 NA NA 0.377442 0.4133 NA 0.217 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114227.2;CLNDSDB=.;CLNDSDBID=. 5.938258 1058 19 51483620 51483620 G C exonic KLK7 NA synonymous SNV KLK7:NM_001207053:exon3:c.C129G:p.L43L,KLK7:NM_001243126:exon3:c.C324G:p.L108L,KLK7:NM_005046:exon4:c.C345G:p.L115L,KLK7:NM_139277:exon4:c.C345G:p.L115L exonic ENSG00000169035 NA nonsynonymous SNV ENSG00000169035:ENST00000304045:exon3:c.C197G:p.S66W NA NA 19q13.41 NA NA NA NA rs35354640 0.01 0.01 0.01 0.00898562 0.0258 NA 0.0187 0.0008 0.0051 0.03 NA 0.02 0.002 0.0152 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683853 NA NA 0.021047 0.003177 NA 0.007 NA 5.937953 1058 5 149495253 149495253 T C UTR3 PDGFRB NM_002609:c.*73A>G NA NA UTR3 ENSG00000113721 ENST00000261799:c.*73A>G NA NA NA NA 5q32 NA Name=GATA-1,ETS1,GABP,TAL1_(SC-12984),HMGN3,Pol2,NRSF,Pol2-4H8,GATA-2,ELF1_(SC-631),ZBTB7A_(SC-34508),CCNT2,THAP1_(SC-98174),USF-1,GATA2_(CG2-96) Name=8 NA rs2229562 0.31 0.31 0.311 0.31889 0.3956 0.1071 0.3285 0.4259 0.3067 0.4 0.1 0.35 0.39 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092625 NA NA NA NA NA 0.319 NA 5.9377334 1058 9 139369062 139369062 C T exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.G3006A:p.L1002L,SEC16A:NM_014866:exon3:c.G3006A:p.L1002L exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000290037:exon1:c.G2472A:p.L824L,ENSG00000148396:ENST00000313050:exon1:c.G3006A:p.L1002L,ENSG00000148396:ENST00000371706:exon1:c.G2472A:p.L824L,ENSG00000148396:ENST00000431893:exon1:c.G2472A:p.L824L NA NA 9q34.3 Score=938;Name=V$NFAT_Q6 NA NA NA rs3812595 0.17 0.17 0.164 0.152157 0.2535 0.0575 0.2608 0.1021 0.136 0.26 0.08 0.24 0.09 0.2144 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001595 NA NA 0.261284 0.118701 NA 0.13 NA 5.9374826 1058 9 79655474 79655474 A G intergenic FOXB2,VPS13A-AS1 dist=19605;dist=136198 NA NA ncRNA_exonic ENSG00000232851 NA NA NA NA NA 9q21.2 NA Name=NRSF Name=4 NA rs72736983 0.05 0.05 0.055 0.0535144 0.0626 0.0079 0.0634 0.0575 0.0787 0.07 0.01 0.06 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008707 NA NA NA NA NA 0.036 NA 5.9374 1058 9 140652537 140652537 G T intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA Name=Pol2-4H8,CTCF Name=92 NA rs3125795 0.12 0.12 0.146 0.144369 0.0626 0.001 0.085 0.4501 0.0051 0.06 0.0017 0.08 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463412 NA NA NA NA NA 0.181 NA 5.9374 1058 9 140652571 140652571 C G intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA Name=CTCF Name=92 NA rs3123518 0.11 0.11 0.12 0.123003 0.0626 NA 0.0749 0.3752 0.0051 0.06 NA 0.07 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59475 NA NA NA NA NA 0.123 NA 5.9374 1058 3 180365956 180365956 G A exonic CCDC39 NA synonymous SNV CCDC39:NM_181426:exon10:c.C1359T:p.S453S exonic ENSG00000145075 NA synonymous SNV ENSG00000145075:ENST00000442201:exon10:c.C1359T:p.S453S,ENSG00000145075:ENST00000273654:exon16:c.C1611T:p.S537S,ENSG00000145075:ENST00000476379:exon16:c.C1359T:p.S453S Score=538;Name=lod=204 NA 3q26.33 NA NA NA NA rs6769457 0.31 0.31 0.313 0.31889 0.2515 0.004 0.2911 0.7375 0.1667 0.25 0.0017 0.31 0.74 0.2579 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489663 NA NA 0.219932 0.626477 NA 0.377 NA 5.9373346 1058 4 110866442 110866442 G A intronic EGF NA NA NA intronic ENSG00000138798 NA NA NA NA NA 4q25 Score=880;Name=V$AP1_01 Name=eGFP-JunD,c-Jun,eGFP-JunB,FOSL2,JunD,CEBPB,eGFP-FOS,FOSL1_(SC-183) Name=24 NA rs4698756 0.42 0.42 0.382 0.435304 0.333 0.505 0.4726 0.4486 0.4243 0.34 0.51 0.46 0.42 0.3882 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119343 NA NA 0.341977 0.458012 NA 0.507 NA 5.936823 1058 13 60240961 60240961 C T exonic DIAPH3 NA synonymous SNV DIAPH3:NM_001258367:exon26:c.G3201A:p.L1067L,DIAPH3:NM_001258368:exon26:c.G3129A:p.L1043L,DIAPH3:NM_001258366:exon27:c.G3306A:p.L1102L,DIAPH3:NM_001042517:exon28:c.G3339A:p.L1113L exonic ENSG00000139734 NA synonymous SNV ENSG00000139734:ENST00000400319:exon26:c.G3129A:p.L1043L,ENSG00000139734:ENST00000400320:exon26:c.G3201A:p.L1067L,ENSG00000139734:ENST00000377908:exon27:c.G3306A:p.L1102L,ENSG00000139734:ENST00000400324:exon28:c.G3339A:p.L1113L,ENSG00000139734:ENST00000400330:exon28:c.G3339A:p.L1113L Score=588;Name=lod=327 NA 13q21.2 NA NA NA NA rs9538494 0.15 0.15 0.129 0.146965 0.2594 0.1071 0.2147 0.0242 0.1902 0.25 0.1 0.22 0.02 0.2041 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565348 NA NA 0.26644 0.064028 NA 0.138 NA 5.9367266 1058 6 29894567 29894567 G A intergenic HCG4B,HLA-A dist=1139;dist=15680 NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=AP-2gamma,NFKB,Pol2-4H8 Name=99 NA rs116296604 0.1 0.1 0.052 0.121006 0.0636 0.3214 0.0476 0.003 0.1851 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170859 NA NA NA NA NA 0.051 NA 5.9364 1058 6 29895005 29895005 C T intergenic HCG4B,HLA-A dist=1577;dist=15242 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=ELF1_(SC-631),TAF1,Pol2,YY1 Name=99 NA rs62390376 0.1 0.1 0.039 0.119808 0.0636 0.3185 0.0476 0.0023 0.183 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592533 NA NA NA NA NA 0.087 NA 5.9364 1058 6 29895039 29895039 A C intergenic HCG4B,HLA-A dist=1611;dist=15208 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=ELF1_(SC-631),HEY1,TAF1,YY1,Pol2 Name=99 NA rs62390377 0.1 0.1 0.065 0.119808 0.0636 0.3185 0.0476 0.0023 0.183 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.332839 1.332839 NA NA NA NA 0.087 NA 5.9364 1058 7 40899967 40899967 G C exonic C7orf10 NA synonymous SNV C7orf10:NM_001193312:exon13:c.G1083C:p.P361P,C7orf10:NM_001193313:exon14:c.G1227C:p.P409P,C7orf10:NM_001193311:exon15:c.G1305C:p.P435P,C7orf10:NM_024728:exon15:c.G1194C:p.P398P exonic ENSG00000175600 NA synonymous SNV ENSG00000175600:ENST00000401647:exon13:c.G1083C:p.P361P,ENSG00000175600:ENST00000335693:exon14:c.G1227C:p.P409P,ENSG00000175600:ENST00000309930:exon15:c.G1305C:p.P435P Score=449;Name=lod=89 NA 7p14.1 NA NA NA NA rs2010706 0.46 0.46 0.447 NA NA NA NA NA NA 0.36 0.8 0.42 0.24 0.3887 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088211 NA NA 0.341576 0.215513 NA 0.406 NA 5.9363906 1058 12 96346594 96346594 T C exonic AMDHD1 NA synonymous SNV AMDHD1:NM_152435:exon2:c.T237C:p.I79I exonic ENSG00000139344 NA synonymous SNV ENSG00000139344:ENST00000266736:exon2:c.T237C:p.I79I Score=525;Name=lod=181 NA 12q23.1 NA NA NA NA rs1982138 0.24 0.24 0.23 0.254593 0.2455 0.4673 0.1225 0.0923 0.3579 0.25 0.42 0.14 0.1 0.2445 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087858 NA NA 0.241098 0.126645 NA 0.116 NA 5.9355686 1058 6 29894603 29894603 A G intergenic HCG4B,HLA-A dist=1175;dist=15644 NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,NFKB,AP-2gamma Name=99 NA rs116078621 0.11 0.11 0.048 0.121206 0.0646 0.3204 0.0476 0.003 0.1861 0.07 0.29 0.05 0.01 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361648 NA NA NA NA NA 0.058 NA 5.9354 1058 12 96368255 96368255 A G intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA Name=USF-1,TCF12,HDAC2_(SC-6296),FOSL2,FOXA1_(C-20),HNF4A_(H-171),p300,RXRA,FOXA1_(SC-101058),FOXA2_(SC-6554),HNF4G_(SC-6558),SP1,TCF4 Name=3 NA rs2068662 0.14 0.14 0.143 0.153954 0.0646 0.1012 0.062 0.3359 0.1196 0.06 0.1 0.07 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217096 NA NA NA NA NA 0.21 NA 5.9354 1058 13 41437926 41437926 C T ncRNA_intronic TPTE2P5 NA NA NA ncRNA_exonic ENSG00000176268 NA NA NA Score=624;Name=lod=459 NA 13q14.11 NA Name=Rad21 NA NA rs7339089 0.58 0.58 0.551 0.572284 0.7316 0.2302 0.7305 0.5991 0.6125 0.74 0.26 0.7 0.6 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792315 NA NA NA NA NA 0.688 NA 5.9350666 1059 6 11779088 11779088 C T UTR5 ADTRP NM_032744:c.-96G>A,NM_001143948:c.-96G>A NA NA UTR5 ENSG00000111863 ENST00000414691:c.-96G>A,ENST00000379413:c.-96G>A,ENST00000379415:c.-96G>A,ENST00000506810:c.-96G>A NA NA NA NA 6p24.1 NA Name=E2F6_(H-50),TBP,HEY1,ELF1_(SC-631) Name=10 NA rs2076189 0.35 0.35 0.339 0.349241 0.3986 0.2262 0.3963 0.4312 0.2812 0.39 0.22 0.36 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412985 NA NA NA NA NA 0.435 NA 5.9347334 1059 18 21437931 21437931 G C exonic LAMA3 NA synonymous SNV LAMA3:NM_001127717:exon33:c.G4260C:p.G1420G,LAMA3:NM_198129:exon33:c.G4260C:p.G1420G exonic ENSG00000053747 NA synonymous SNV ENSG00000053747:ENST00000313654:exon33:c.G4260C:p.G1420G,ENSG00000053747:ENST00000399516:exon33:c.G4260C:p.G1420G NA NA 18q11.2 NA Name=CEBPB,FOXA2_(SC-6554),FOXA1_(SC-101058),STAT3,FOXA1_(C-20) Name=76 NA rs867449 0.39 0.39 0.354 0.34365 0.6123 0.1736 0.415 0.202 0.3834 0.61 0.17 0.47 0.22 0.4962 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349559 NA NA 0.623715 0.298724 NA 0.406 NA 5.9344516 1059 1 16890441 16890441 C T exonic NBPF1 NA unknown UNKNOWN exonic ENSG00000219481 NA synonymous SNV ENSG00000219481:ENST00000430580:exon29:c.G3417A:p.Q1139Q NA NA 1p36.13 NA NA Name=9 NA rs3863779 NA NA 0.055 NA NA NA NA NA NA NA NA NA NA 0.2789 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202919 NA NA 0.120233 0.091466 NA NA NA 5.9342003 1059 16 4794873 4794873 C T exonic C16orf71 NA nonsynonymous SNV C16orf71:NM_139170:exon6:c.C904T:p.R302C exonic ENSG00000166246 NA nonsynonymous SNV ENSG00000166246:ENST00000299320:exon6:c.C904T:p.R302C,ENSG00000166246:ENST00000590191:exon6:c.C946T:p.R316C NA NA 16p13.3 NA NA NA NA rs2075469 0.6 0.6 0.611 0.551518 0.6372 0.6776 0.5576 0.4334 0.4888 0.64 0.71 0.55 0.47 0.6088 0.71 0.09 T 0.894 P 0.311 B 0.801 N 1.000 P 1.245 L 2.56 T -1.003 T 0.000 T 0.103 1.904 12.33 1.82 0.488 0.399 4.324 1.904312 1.904312 0.18 0.65314 0.494538 ID=COSM435287;OCCURENCE=1(breast) 0.58 NA 5.9341934 1059 8 77765865 77765865 C T exonic ZFHX4 NA synonymous SNV ZFHX4:NM_024721:exon10:c.C6708T:p.Y2236Y exonic ENSG00000091656 NA synonymous SNV ENSG00000091656:ENST00000518282:exon9:c.C6630T:p.Y2210Y,ENSG00000091656:ENST00000050961:exon10:c.C6573T:p.Y2191Y,ENSG00000091656:ENST00000455469:exon10:c.C6573T:p.Y2191Y,ENSG00000091656:ENST00000521891:exon10:c.C6708T:p.Y2236Y Score=494;Name=lod=136 NA 8q21.11 NA NA NA NA rs2728455 0.13 0.13 0.122 0.141174 0.2555 0.0327 0.1311 0.0431 0.2751 0.27 0.03 0.14 0.04 0.2194 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443805 NA NA 0.258717 0.081557 NA 0.188 NA 5.9330496 1059 13 113897320 113897320 C T exonic CUL4A NA synonymous SNV CUL4A:NM_001008895:exon11:c.C1074T:p.D358D,CUL4A:NM_003589:exon11:c.C774T:p.D258D exonic ENSG00000139842 NA synonymous SNV ENSG00000139842:ENST00000326335:exon11:c.C774T:p.D258D,ENSG00000139842:ENST00000375440:exon11:c.C1074T:p.D358D,ENSG00000139842:ENST00000375441:exon11:c.C774T:p.D258D,ENSG00000139842:ENST00000451881:exon11:c.C774T:p.D258D Score=680;Name=lod=775 NA 13q34 NA NA NA NA rs3764124 0.24 0.24 0.208 0.260982 0.2336 0.3383 0.3271 0.0439 0.456 0.25 0.32 0.3 0.07 0.2692 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327713 NA NA 0.23093 0.077167 NA 0.203 NA 5.9329366 1059 1 9777586 9777586 G C intronic PIK3CD NA NA NA intronic ENSG00000171608 NA NA NA NA NA 1p36.22 NA Name=HEY1,Pol2(b),TAF1,HNF4G_(SC-6558),TCF4,HNF4A,CTCF,CTCF_(SC-5916),Pol2,SP1,NRSF,HDAC2_(SC-6296),Pol2-4H8,BCLAF1_(M33-P5B11),TAF7_(SQ-8) Name=6 NA rs28730669 0.01 0.01 NA 0.00778754 0.0298 NA 0.0115 0.0008 NA 0.02 NA 0.01 NA 0.0166 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184925 NA NA 0.021279 0.00522 NA 0.014 NA 5.932321 1059 16 1877913 1877913 C G UTR3 FAHD1 NM_031208:c.*8C>G NA NA UTR3 ENSG00000180185 ENST00000427358:c.*8C>G NA NA NA NA 16p13.3 NA Name=ERalpha_a Name=4 NA rs13166 0.12 0.12 0.116 0.117212 0.1342 0.1042 0.0908 0.0998 0.1554 0.13 0.12 0.11 0.11 0.131 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017316 NA NA 0.136047 0.100728 NA 0.138 NA 5.9320864 1059 15 75982428 75982428 C T exonic CSPG4 NA synonymous SNV CSPG4:NM_001897:exon3:c.G978A:p.G326G exonic ENSG00000173546 NA synonymous SNV ENSG00000173546:ENST00000308508:exon3:c.G978A:p.G326G Score=393;Name=lod=53 NA 15q24.2 NA NA NA NA rs7182906 0.28 0.28 0.211 0.284145 0.3817 0.1865 0.4006 0.2277 0.2781 0.39 0.14 0.37 0.19 0.3535 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740454 NA NA NA NA ID=COSM434332;OCCURENCE=1(breast) 0.225 NA 5.9314666 1059 4 125384532 125384532 G A intergenic LOC285419,ANKRD50 dist=533014;dist=200672 NA NA ncRNA_exonic ENSG00000248565 NA NA NA Score=701;Name=lod=938 NA 4q28.1 NA Name=CEBPB NA NA rs115074818 0.03 0.03 0.023 0.0229633 0.0686 NA 0.0504 0.0053 0.0041 0.07 NA 0.06 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002078 NA NA NA NA NA 0.036 NA 5.9314 1059 1 15892415 15892415 A C exonic DNAJC16 NA synonymous SNV DNAJC16:NM_015291:exon12:c.A1600C:p.R534R exonic ENSG00000116138 NA synonymous SNV ENSG00000116138:ENST00000375838:exon12:c.A1600C:p.R534R,ENSG00000116138:ENST00000375847:exon12:c.A1600C:p.R534R,ENSG00000116138:ENST00000375849:exon12:c.A1600C:p.R534R,ENSG00000116138:ENST00000475133:exon12:c.A1600C:p.R534R Score=548;Name=lod=225 NA 1p36.21 NA NA NA NA rs2236215 0.28 0.28 0.286 0.288139 0.2326 0.0565 0.219 0.6082 0.2004 0.24 0.06 0.28 0.58 0.2552 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.149868 2.149868 NA 0.247558 0.575806 NA 0.297 NA 5.9313086 1059 17 72691928 72691928 T C exonic CD300LF NA nonsynonymous SNV CD300LF:NM_139018:exon6:c.A653G:p.Q218R exonic ENSG00000186074 NA nonsynonymous SNV ENSG00000186074:ENST00000326165:exon6:c.A653G:p.Q218R,ENSG00000186074:ENST00000464910:exon6:c.A662G:p.Q221R,ENSG00000186074:ENST00000583937:exon6:c.A698G:p.Q233R NA NA 17q25.1 NA Name=CTCF,NRSF NA NA rs2034310 0.72 0.72 0.698 0.705072 0.8141 0.6647 0.7089 0.6089 0.7618 0.81 0.67 0.72 0.65 0.7736 0.81 0.78 T 0.001 B 0.001 B 0.380 N 1.000 P -0.55 N 0.91 T -1.005 T 0.000 T 0.049 -0.267 2.721 -0.605 -0.239 -0.152 4.390 -0.266639 NA 0.65 0.814767 0.640944 ID=COSM1385797,COSM1385796;OCCURENCE=1(large_intestine) 0.761 NA 5.9308664 1059 7 111387274 111387274 G C intronic DOCK4 NA NA NA intronic ENSG00000128512 NA NA NA NA NA 7q31.1 NA Name=FOXA2_(SC-6554) Name=5 NA rs60607828 0.02 0.02 0.024 0.0273562 0.0288 NA 0.0216 0.0688 0.002 0.03 NA 0.01 0.04 0.0216 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381436 NA NA 0.019156 0.063421 NA 0.065 NA 5.930444 1059 2 219492924 219492924 T C exonic PLCD4 NA synonymous SNV PLCD4:NM_032726:exon7:c.T945C:p.C315C exonic ENSG00000115556 NA synonymous SNV ENSG00000115556:ENST00000417849:exon7:c.T945C:p.C315C,ENSG00000115556:ENST00000432688:exon7:c.T945C:p.C315C,ENSG00000115556:ENST00000450993:exon7:c.T945C:p.C315C Score=558;Name=lod=248 NA 2q35 NA NA Name=2 NA rs612874 0.52 0.52 0.461 0.508986 0.5934 0.7827 0.5879 0.0711 0.6759 0.6 0.76 0.6 0.07 0.5704 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.31098 1.31098 NA 0.572453 0.156096 NA 0.37 NA 5.9304136 1059 13 27591826 27591826 A T intergenic GPR12,USP12 dist=256904;dist=48461 NA NA ncRNA_exonic ENSG00000218198 NA NA NA Score=700;Name=lod=931 NA 13q12.13 NA NA Name=14 NA rs7997146 0.08 0.08 0.078 0.100439 0.0696 0.0704 0.0749 0.1415 0.1258 0.07 0.06 0.08 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674106 NA NA NA NA NA 0.094 NA 5.9304 1059 10 61831744 61831744 A G exonic ANK3 NA synonymous SNV ANK3:NM_020987:exon37:c.T8895C:p.A2965A exonic ENSG00000151150 NA synonymous SNV ENSG00000151150:ENST00000280772:exon37:c.T8895C:p.A2965A NA NA 10q21.2 NA NA NA NA rs10740006 0.15 0.15 0.117 0.125998 0.2724 0.0347 0.2104 0.0204 0.1524 0.26 0.04 0.22 0.03 0.2023 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046917 NA NA 0.26186 0.051294 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116344.2;CLNDSDB=.;CLNDSDBID=. 5.9301066 1059 6 32811530 32811530 A C intronic PSMB8 NA NA NA intronic ENSG00000204264 NA NA NA NA NA 6p21.32 NA Name=PU.1 Name=2 NA rs4713599 0.07 0.07 0.078 0.0726837 0.0706 0.0645 0.0793 0.0658 0.0879 0.07 0.07 0.09 0.06 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443263 NA NA NA NA NA 0.087 NA 5.9294 1059 19 53507523 53507523 T C intergenic ZNF702P,ERVV-1 dist=10739;dist=9821 NA NA ncRNA_exonic ENSG00000268282 NA NA NA Score=604;Name=lod=381 NA 19q13.41 NA NA Name=4 NA rs1661909 0.33 0.33 0.35 0.352037 0.0706 0.4365 0.2133 0.7451 0.1217 0.08 0.42 0.2 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124353 NA NA NA NA ID=COSN165921;OCCURENCE=1(breast) 0.297 NA 5.9294 1059 19 53507710 53507710 G A intergenic ZNF702P,ERVV-1 dist=10926;dist=9634 NA NA ncRNA_exonic ENSG00000268282 NA NA NA NA NA 19q13.41 NA Name=USF-1 Name=4 NA rs1650938 0.31 0.31 0.315 0.316494 0.0706 0.4365 0.1988 0.618 0.1217 0.08 0.42 0.18 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.732951 NA NA NA NA NA 0.326 NA 5.9294 1059 11 4790410 4790410 A G exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.T738C:p.H246H exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.T738C:p.H246H,ENSG00000188069:ENST00000380383:exon1:c.T759C:p.H253H Score=343;Name=lod=33 NA 11p15.4 NA NA NA NA rs1030724 0.22 0.22 0.222 0.215455 0.2704 NA 0.2017 0.4561 0.0654 0.24 NA 0.22 0.43 0.2138 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782708 NA NA 0.253374 0.446388 NA 0.29 NA 5.9290926 1059 1 207238419 207238419 C T exonic PFKFB2 NA synonymous SNV PFKFB2:NM_001018053:exon8:c.C546T:p.N182N,PFKFB2:NM_006212:exon8:c.C546T:p.N182N exonic ENSG00000123836 NA synonymous SNV ENSG00000123836:ENST00000367079:exon8:c.C546T:p.N182N,ENSG00000123836:ENST00000367080:exon8:c.C546T:p.N182N,ENSG00000123836:ENST00000411990:exon8:c.C252T:p.N84N,ENSG00000123836:ENST00000545806:exon8:c.C447T:p.N149N Score=616;Name=lod=425 NA 1q32.2 NA NA NA NA rs72741390 0.13 0.13 0.111 0.110823 0.2753 0.0079 0.1542 0.0257 0.1319 0.27 0.01 0.17 0.03 0.2019 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.28593 1.28593 NA 0.260465 0.05833 NA 0.188 NA 5.9290016 1059 11 100909991 100909991 T C exonic PGR NA synonymous SNV PGR:NM_001271161:exon7:c.A1860G:p.Q620Q,PGR:NM_000926:exon8:c.A2658G:p.Q886Q,PGR:NM_001202474:exon8:c.A2166G:p.Q722Q,PGR:NM_001271162:exon8:c.A876G:p.Q292Q exonic ENSG00000082175 NA synonymous SNV ENSG00000082175:ENST00000263463:exon7:c.A2352G:p.Q784Q,ENSG00000082175:ENST00000325455:exon8:c.A2658G:p.Q886Q,ENSG00000082175:ENST00000534013:exon8:c.A876G:p.Q292Q Score=700;Name=lod=937 NA 11q22.1 NA NA NA NA rs500760 0.29 0.29 0.281 0.261581 0.2525 0.2133 0.2651 0.413 0.1135 0.26 0.23 0.3 0.41 0.2415 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575704 NA NA 0.244475 0.381071 NA 0.362 NA 5.9281916 1059 11 92623877 92623877 G A exonic FAT3 NA synonymous SNV FAT3:NM_001008781:exon25:c.G13272A:p.P4424P exonic ENSG00000165323 NA synonymous SNV ENSG00000165323:ENST00000533797:exon8:c.G2277A:p.P759P,ENSG00000165323:ENST00000409404:exon25:c.G13272A:p.P4424P,ENSG00000165323:ENST00000298047:exon27:c.G13368A:p.P4456P,ENSG00000165323:ENST00000525166:exon27:c.G12918A:p.P4306P NA NA 11q14.3 Score=794;Name=V$OLF1_01 NA NA NA rs12277422 0.25 0.25 0.237 0.226238 0.2455 0.2381 0.2954 0.2148 0.1605 0.24 0.25 0.27 0.25 0.2439 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105914 NA NA 0.24958 0.2199 NA 0.174 NA 5.9276866 1059 6 15496662 15496662 C T exonic JARID2 NA synonymous SNV JARID2:NM_001267040:exon7:c.C690T:p.P230P,JARID2:NM_004973:exon7:c.C1206T:p.P402P exonic ENSG00000008083 NA synonymous SNV ENSG00000008083:ENST00000541660:exon6:c.C1092T:p.P364P,ENSG00000008083:ENST00000341776:exon7:c.C1206T:p.P402P,ENSG00000008083:ENST00000397311:exon7:c.C690T:p.P230P Score=805;Name=lod=2497 NA 6p22.3 NA NA NA NA rs742099 0.21 0.21 0.209 0.1877 0.2515 0.3056 0.2147 0.056 0.1595 0.25 0.28 0.2 0.06 0.2332 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212573 NA NA 0.254419 0.085792 NA 0.246 NA 5.9275476 1059 5 42908745 42908745 C T intergenic SEPP1,LOC648987 dist=96721;dist=106086 NA NA ncRNA_exonic ENSG00000251656 NA NA NA NA NA 5p12 NA Name=ZNF263 Name=148 NA rs72759075 0.05 0.05 0.045 0.0419329 0.0726 0.003 0.0692 0.0461 0.0256 0.07 0.0017 0.08 0.04 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43433 NA NA NA NA NA 0.072 NA 5.9274 1059 19 10284415 10284415 A G intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA Name=TFIIIC-110,CEBPB Name=79 NA rs3745270 0.22 0.22 0.189 0.236022 0.0726 0.3958 0.1888 0.2557 0.2464 0.07 0.42 0.18 0.27 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179088 NA NA NA NA NA 0.246 NA 5.9274 1059 22 25099392 25099392 G A intergenic POM121L10P,PIWIL3 dist=44278;dist=15609 NA NA ncRNA_exonic ENSG00000237601 NA NA NA Score=505;Name=lod=150 NA 22q11.23 NA Name=GATA-1,p300 NA NA rs78093638 0.08 0.08 0.067 0.0690895 0.0726 0.1181 0.1182 0.003 0.0695 0.07 0.14 0.1 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707294 NA NA NA NA NA 0.022 NA 5.9274 1059 16 21145648 21145648 C T exonic DNAH3 NA synonymous SNV DNAH3:NM_017539:exon7:c.G1014A:p.K338K exonic ENSG00000158486 NA synonymous SNV ENSG00000158486:ENST00000261383:exon7:c.G1014A:p.K338K,ENSG00000158486:ENST00000415178:exon7:c.G1014A:p.K338K Score=420;Name=lod=68 NA 16p12.3 NA NA NA NA rs11074483 0.27 0.27 0.245 0.2498 0.2336 0.2946 0.3646 0.1853 0.226 0.26 0.31 0.31 0.2 0.2615 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333816 1.333816 NA 0.244186 0.20786 ID=COSM148041,COSM148042;OCCURENCE=1(stomach) 0.326 NA 5.9273806 1059 6 146678882 146678882 G A intronic GRM1 NA NA NA intronic ENSG00000152822 NA NA NA NA NA 6q24.3 NA Name=CEBPB,STAT3 Name=124 NA rs362892 0.01 0.01 0.014 0.00958466 0.0298 NA 0.0159 0.0053 NA 0.03 NA 0.02 0.01 0.0171 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066878 NA NA 0.026418 0.007159 NA NA NA 5.926682 1059 4 47643863 47643863 T C intronic CORIN NA NA NA intronic ENSG00000145244 NA NA NA Score=284;Name=lod=19 NA 4p12 NA NA Name=36 NA rs17462783 0.07 0.07 0.076 0.0640974 0.0746 0.004 0.0375 0.1445 0.0256 0.08 0.01 0.05 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090781 NA NA NA NA NA 0.065 NA 5.9254 1059 17 74273187 74273187 G A intronic QRICH2 NA NA NA intronic ENSG00000129646 NA NA NA NA NA 17q25.1 NA Name=AP-2gamma,STAT1 Name=59 NA rs73999020 0.07 0.07 0.041 0.0786741 0.0746 0.003 0.1974 0.0673 0.092 0.07 0.0017 0.17 0.06 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.617997 NA NA NA NA NA 0.109 NA 5.9254 1059 1 76198309 76198309 T C intronic ACADM NA NA NA intronic ENSG00000117054 NA NA NA NA NA 1p31.1 NA NA Name=18 NA rs74090724 0.04 0.04 0.045 0.0401358 0.0179 NA 0.0245 0.1218 0.0051 0.01 NA 0.03 0.13 0.0277 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096746 NA NA 0.029309 0.101047 NA 0.014 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000077880.1|RCV000123472.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.925091 1060 3 133486958 133486958 G C exonic TF NA synonymous SNV TF:NM_001063:exon13:c.G1572C:p.L524L exonic ENSG00000091513 NA synonymous SNV ENSG00000091513:ENST00000264998:exon12:c.G1191C:p.L397L,ENSG00000091513:ENST00000402696:exon13:c.G1572C:p.L524L Score=289;Name=lod=20 NA 3q22.1 NA NA NA NA rs8649 0.22 0.22 0.218 0.21246 0.2614 0.0714 0.1787 0.3457 0.1513 0.25 0.09 0.21 0.32 0.2219 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.159781 NA NA 0.258721 0.308443 NA 0.312 NA 5.9246456 1060 22 32590449 32590449 G A exonic RFPL2 NA nonsynonymous SNV RFPL2:NM_001098527:exon3:c.C148T:p.R50C exonic ENSG00000128253 NA nonsynonymous SNV ENSG00000128253:ENST00000400237:exon3:c.C148T:p.R50C NA NA 22q12.3 NA NA NA NA rs108211 0.44 0.44 0.458 0.46845 0.4801 0.1498 0.3775 0.82 0.3742 0.48 0.13 0.38 0.8 0.4579 0.8 0.34 T 0.002 B 0.0 B . . 1.000 P 0 N 0.21 T -0.998 T 0.000 T 0.038 -0.483 1.778 -1.32 -0.288 -0.810 4.348 -0.482759 NA 0.11 0.470966 0.768176 NA 0.486 NA 5.9243674 1060 19 23159486 23159486 T C exonic ZNF728 NA nonsynonymous SNV ZNF728:NM_001267716:exon4:c.A653G:p.Y218C exonic ENSG00000269067 NA nonsynonymous SNV ENSG00000269067:ENST00000594710:exon4:c.A653G:p.Y218C NA NA 19p12 NA NA NA NA rs289318 0.26 0.26 0.283 0.259585 0.1938 0.1736 0.1441 0.4992 0.1738 0.19 0.18 0.17 0.5 0.2154 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197313 NA NA NA NA NA 0.348 NA 5.9241334 1060 16 5064917 5064917 C T exonic SEC14L5 NA synonymous SNV SEC14L5:NM_014692:exon16:c.C2037T:p.A679A exonic ENSG00000103184 NA synonymous SNV ENSG00000103184:ENST00000251170:exon16:c.C2037T:p.A679A Score=381;Name=lod=47 NA 16p13.3 NA NA NA NA rs2012649 0.18 0.18 0.122 0.153155 0.2624 0.0645 0.3833 0.0371 0.1258 0.27 0.05 0.37 0.05 0.2285 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440949 NA NA 0.251698 0.076424 NA 0.239 NA 5.9240686 1060 6 88853635 88853635 C T exonic CNR1 NA synonymous SNV CNR1:NM_001160259:exon2:c.G1359A:p.T453T,CNR1:NM_016083:exon2:c.G1359A:p.T453T,CNR1:NM_033181:exon2:c.G1260A:p.T420T,CNR1:NM_001160226:exon3:c.G1359A:p.T453T,CNR1:NM_001160258:exon4:c.G1359A:p.T453T exonic ENSG00000118432 NA synonymous SNV ENSG00000118432:ENST00000549890:exon1:c.G1359A:p.T453T,ENSG00000118432:ENST00000369499:exon2:c.G1359A:p.T453T,ENSG00000118432:ENST00000369501:exon2:c.G1359A:p.T453T,ENSG00000118432:ENST00000428600:exon2:c.G1359A:p.T453T,ENSG00000118432:ENST00000468898:exon2:c.G1260A:p.T420T,ENSG00000118432:ENST00000535130:exon2:c.G1359A:p.T453T,ENSG00000118432:ENST00000537554:exon2:c.G1359A:p.T453T,ENSG00000118432:ENST00000549716:exon2:c.G1176A:p.T392T Score=615;Name=lod=422 NA 6q15 NA NA NA NA rs1049353 0.14 0.14 0.133 0.129393 0.2584 0.0764 0.147 0.0287 0.1748 0.27 0.07 0.12 0.03 0.2136 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145492 NA NA 0.27093 0.071266 NA 0.109 NA 5.9237366 1060 2 220432014 220432014 G A exonic OBSL1 NA synonymous SNV OBSL1:NM_001173408:exon4:c.C1818T:p.F606F,OBSL1:NM_001173431:exon4:c.C1818T:p.F606F,OBSL1:NM_015311:exon4:c.C1818T:p.F606F exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265318:exon4:c.C1818T:p.F606F,ENSG00000124006:ENST00000289656:exon4:c.C579T:p.F193F,ENSG00000124006:ENST00000373873:exon4:c.C1818T:p.F606F,ENSG00000124006:ENST00000373876:exon4:c.C1818T:p.F606F,ENSG00000124006:ENST00000404537:exon4:c.C1818T:p.F606F,ENSG00000124006:ENST00000603926:exon4:c.C1818T:p.F606F Score=363;Name=lod=40 NA 2q35 NA NA NA NA rs61732787 0.17 0.17 0.152 0.171725 0.2425 0.1151 0.2017 0.0454 0.3067 0.24 0.13 0.23 0.06 0.2486 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.424319 NA NA 0.25187 0.08642 NA 0.181 NA 5.9236966 1060 15 56299233 56299233 G A intergenic NEDD4,RFX7 dist=13398;dist=83498 NA NA ncRNA_exonic ENSG00000230183 NA NA NA Score=592;Name=lod=341 NA 15q21.3 NA NA Name=9 NA rs62046379 0.07 0.07 0.045 0.0802716 0.0765 0.0179 0.1556 0.0976 0.0716 0.06 0.01 0.12 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501143 NA NA NA NA NA 0.029 NA 5.9235 1060 2 30959366 30959366 T C intronic CAPN13 NA NA NA intronic ENSG00000162949 NA NA NA Score=343;Name=lod=33 NA 2p23.1 Score=766;Name=V$SRF_01 NA NA NA rs11889549 0.02 0.02 0.014 0.0199681 0.0298 0.002 0.0202 0.0015 0.0532 0.03 0.0017 0.02 0.002 0.0222 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19466 NA NA 0.024916 0.004 NA 0.007 NA 5.923084 1060 2 206813906 206813906 A G intergenic NRP2,INO80D dist=151049;dist=44539 NA NA ncRNA_exonic ENSG00000213739 NA NA NA Score=676;Name=lod=744 NA 2q33.3 NA Name=CTCF NA NA rs75967462 0.06 0.06 0.034 0.0505192 0.0775 NA 0.1974 0.0166 0.0164 0.08 NA 0.17 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377487 NA NA NA NA NA 0.145 NA 5.9225 1060 2 233280822 233280822 G T intergenic ALPPL2,ALPI dist=5398;dist=40011 NA NA ncRNA_exonic ENSG00000204121 NA NA NA Score=599;Name=lod=363 NA 2q37.1 Score=861;Name=V$GR_Q6 NA NA NA rs744874 0.1 0.1 0.102 0.0866613 0.0775 0.2044 0.0605 0.028 0.0726 0.08 0.2 0.06 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468497 NA NA NA NA NA 0.138 NA 5.9225 1060 9 35705759 35705759 G A exonic TLN1 NA synonymous SNV TLN1:NM_006289:exon42:c.C5601T:p.T1867T exonic ENSG00000137076 NA synonymous SNV ENSG00000137076:ENST00000540444:exon41:c.C5403T:p.T1801T,ENSG00000137076:ENST00000314888:exon42:c.C5601T:p.T1867T Score=514;Name=lod=163 NA 9p13.3 NA NA NA NA rs11541908 0.21 0.21 0.198 0.169129 0.2515 0.253 0.2305 0.0197 0.1564 0.24 0.29 0.25 0.02 0.2264 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509809 NA NA 0.26686 0.060145 NA 0.188 NA 5.9219066 1060 3 196743130 196743130 T C exonic MFI2 NA synonymous SNV MFI2:NM_005929:exon8:c.A1011G:p.T337T exonic ENSG00000163975 NA synonymous SNV ENSG00000163975:ENST00000296350:exon8:c.A1011G:p.T337T NA NA 3q29 Score=848;Name=V$CEBP_C NA NA NA rs6779362 0.31 0.31 0.305 0.319089 0.2455 0.2976 0.2046 0.4743 0.2883 0.24 0.31 0.21 0.51 0.2671 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035214 NA NA 0.233256 0.435769 ID=COSM1131492;OCCURENCE=1(prostate) 0.268 NA 5.9208106 1060 3 42842675 42842675 C A intronic HIGD1A NA NA NA intronic ENSG00000181061 NA NA NA Score=609;Name=lod=399 NA 3p22.1 NA NA Name=3 NA rs7613025 0.03 0.03 0.033 0.0403355 0.0795 0.003 0.0202 NA 0.1074 0.08 0.0035 0.02 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725406 NA NA NA NA NA 0.029 NA 5.9205 1060 3 42842699 42842699 C A intronic HIGD1A NA NA NA intronic ENSG00000181061 NA NA NA Score=609;Name=lod=399 NA 3p22.1 NA NA Name=3 NA rs34822053 0.03 0.03 NA 0.0403355 0.0795 0.003 0.0202 NA 0.1074 0.08 0.0035 0.02 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514393 NA NA NA NA NA 0.029 NA 5.9205 1060 19 51296851 51296851 G A intronic ACPT NA NA NA intronic ENSG00000142513 NA NA NA NA NA 19q13.33 NA Name=Pol2(phosphoS2),Pol2 Name=9 NA rs266124 0.13 0.13 0.119 0.133786 0.0795 0.126 0.0821 0.2761 0.0419 0.08 0.13 0.11 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064308 NA NA NA NA NA 0.116 NA 5.9205 1060 17 15690793 15690793 T C ncRNA_exonic MEIS3P1 NA NA NA ncRNA_exonic ENSG00000179277 NA NA NA Score=767;Name=lod=1747 NA 17p12 NA Name=NRSF NA NA rs534861 0.44 0.44 0.401 0.538339 0.3032 0.5556 0.5259 0.7042 0.547 0.24 0.52 0.43 0.66 0.4434 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309031 NA NA NA NA NA 0.406 NA 5.9200666 1060 13 24696820 24696820 G A intergenic ANKRD20A19P,SPATA13 dist=173366;dist=38041 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=726;Name=lod=1194 NA 13q12.12 NA NA Name=2 NA rs4770594 0.14 0.14 0.121 0.142372 0.0805 0.3115 0.1628 0.0234 0.1779 0.08 0.31 0.15 0.01 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085639 NA NA NA NA NA 0.043 NA 5.9195 1060 8 144885580 144885580 A G exonic SCRIB NA synonymous SNV SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F exonic ENSG00000180900 NA synonymous SNV ENSG00000180900:ENST00000320476:exon24:c.T3576C:p.F1192F,ENSG00000180900:ENST00000356994:exon24:c.T3576C:p.F1192F,ENSG00000180900:ENST00000377533:exon24:c.T3333C:p.F1111F Score=409;Name=lod=61 NA 8q24.3 NA NA NA NA rs13281371 0.93 0.93 0.906 0.933906 0.9085 0.9752 0.9438 0.8918 0.9673 0.91 0.98 0.92 0.91 0.927 0.98 . . . . . . . . 0.000 P . . . . . . . . . -0.523 1.615 -2.22 -0.623 -0.362 11.331 -0.523042 NA NA 0.911806 0.900913 NA 0.471 NA 5.9193606 1060 17 3657175 3657175 T C exonic ITGAE NA nonsynonymous SNV ITGAE:NM_002208:exon13:c.A1429G:p.I477V exonic ENSG00000083457 NA nonsynonymous SNV ENSG00000083457:ENST00000263087:exon13:c.A1429G:p.I477V NA NA 17p13.2 NA NA NA NA rs220479 0.74 0.74 0.769 0.710264 0.8618 0.4058 0.6167 0.9887 0.5583 0.85 0.41 0.69 0.98 0.7359 0.98 1 T 0.001 B 0.002 B . . 1.000 P -1.235 N 2.37 T -1.005 T 0.000 T 0.037 -2.501 0.003 -3.83 -0.905 -0.538 6.700 -2.501285 NA 1 0.816512 0.955515 NA 0.739 NA 5.9191214 1060 5 178310446 178310446 C T exonic ZNF354B NA synonymous SNV ZNF354B:NM_058230:exon5:c.C993T:p.G331G exonic ENSG00000178338 NA synonymous SNV ENSG00000178338:ENST00000322434:exon5:c.C993T:p.G331G Score=361;Name=lod=39 NA 5q35.3 NA Name=KAP1,SETDB1 NA NA rs4130052 0.47 0.47 0.441 0.42512 0.6133 0.247 0.4121 0.4728 0.3599 0.61 0.24 0.46 0.52 0.5204 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320325 NA NA 0.614096 0.487738 ID=COSM150027;OCCURENCE=1(stomach) 0.442 NA 5.9188706 1060 9 129377855 129377855 G C intronic LMX1B NA NA NA intronic ENSG00000136944 NA NA NA Score=734;Name=lod=1281 NA 9q33.3 NA Name=ELF1_(SC-631),SUZ12,c-Myc,ERalpha_a,FOXA1_(C-20) Name=49 NA rs1336980 0.23 0.23 0.231 0.227636 0.3738 0.131 0.245 0.1089 0.3252 0.37 0.13 0.28 0.09 0.3403 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.557989 2.557989 NA 0.367209 0.154108 NA 0.014 NA 5.918691 1060 6 117753564 117753564 C A intergenic ROS1,DCBLD1 dist=6546;dist=50256 NA NA ncRNA_exonic ENSG00000219703 NA NA NA Score=683;Name=lod=797 NA 6q22.1 NA NA Name=8 NA rs80156168 0.05 0.05 0.049 0.0479233 0.0815 0.0516 0.0605 0.0038 0.0603 0.09 0.04 0.06 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778609 NA NA NA NA NA 0.087 NA 5.9185 1060 13 24696508 24696508 C T intergenic ANKRD20A19P,SPATA13 dist=173054;dist=38353 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=704;Name=lod=972 NA 13q12.12 NA Name=c-Fos NA NA rs9551064 0.18 0.18 0.159 0.176318 0.0815 0.3115 0.1758 0.1445 0.1779 0.09 0.32 0.18 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068609 NA NA NA NA ID=COSN164434;OCCURENCE=1(breast) 0.072 NA 5.9185 1060 19 49391585 49391585 A G intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA Name=NF-YA,NF-YB Name=9 NA rs8112951 0.18 0.18 0.206 0.197883 0.0825 0.119 0.1095 0.4418 0.1309 0.09 0.14 0.12 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139148 NA NA NA NA NA 0.174 NA 5.9175 1060 1 76255228 76255228 G A ncRNA_exonic SNORD45B NA NA NA ncRNA_exonic ENSG00000201487 NA NA NA Score=349;Name=lod=35 NA 1p31.1 NA NA Name=10 NA rs11161620 0.17 0.17 0.163 0.159944 0.2773 0.0238 0.219 0.112 0.2025 0.26 0.02 0.25 0.14 0.2106 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.65592 2.65592 NA 0.261678 0.13984 NA 0.225 NA 5.9170886 1060 1 181741301 181741301 C T exonic CACNA1E NA synonymous SNV CACNA1E:NM_001205294:exon36:c.C5016T:p.N1672N,CACNA1E:NM_000721:exon37:c.C5073T:p.N1691N,CACNA1E:NM_001205293:exon37:c.C5073T:p.N1691N exonic ENSG00000198216 NA synonymous SNV ENSG00000198216:ENST00000358338:exon36:c.C4869T:p.N1623N,ENSG00000198216:ENST00000360108:exon36:c.C5016T:p.N1672N,ENSG00000198216:ENST00000526775:exon36:c.C5016T:p.N1672N,ENSG00000198216:ENST00000357570:exon37:c.C4926T:p.N1642N,ENSG00000198216:ENST00000367567:exon37:c.C3894T:p.N1298N,ENSG00000198216:ENST00000367570:exon37:c.C5073T:p.N1691N,ENSG00000198216:ENST00000367573:exon37:c.C5073T:p.N1691N Score=628;Name=lod=476 NA 1q25.3 NA NA NA NA rs199930 0.2 0.2 0.196 0.245407 0.2555 0.0754 0.281 0.2791 0.3395 0.26 0.06 0.23 0.23 0.2485 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441119 1.441119 NA 0.246147 0.253769 NA 0.225 NA 5.9165196 1060 8 144697041 144697041 A G exonic TSTA3 NA synonymous SNV TSTA3:NM_003313:exon4:c.T306C:p.F102F exonic ENSG00000104522 NA synonymous SNV ENSG00000104522:ENST00000425753:exon4:c.T306C:p.F102F,ENSG00000104522:ENST00000526290:exon4:c.T306C:p.F102F,ENSG00000104522:ENST00000529048:exon4:c.T306C:p.F102F,ENSG00000104522:ENST00000529064:exon4:c.T306C:p.F102F,ENSG00000104522:ENST00000533817:exon4:c.T306C:p.F102F Score=389;Name=lod=51 NA 8q24.3 NA NA NA NA rs1049832 0.38 0.38 0.317 0.332268 0.6203 0.2302 0.464 0.09 0.3753 0.62 0.21 0.54 0.08 0.5021 0.63 . . . . . . . . 0.000 P . . . . -0.929 T 0.000 T . 0.676 7.615 -0.778 -0.336 -0.697 10.942 0.675643 NA NA 0.628488 0.178847 NA 0.319 NA 5.9157786 1060 8 144662353 144662353 G A exonic EEF1D NA synonymous SNV EEF1D:NM_001130056:exon6:c.C564T:p.A188A,EEF1D:NM_001130057:exon7:c.C636T:p.A212A,EEF1D:NM_001195203:exon7:c.C579T:p.A193A,EEF1D:NM_001960:exon7:c.C636T:p.A212A,EEF1D:NM_001130055:exon8:c.C636T:p.A212A,EEF1D:NM_001130053:exon9:c.C1734T:p.A578A,EEF1D:NM_032378:exon9:c.C1734T:p.A578A exonic ENSG00000104529 NA synonymous SNV ENSG00000104529:ENST00000529576:exon2:c.C156T:p.A52A,ENSG00000104529:ENST00000528382:exon3:c.C6T:p.A2A,ENSG00000104529:ENST00000528610:exon6:c.C564T:p.A188A,ENSG00000104529:ENST00000531621:exon6:c.C507T:p.A169A,ENSG00000104529:ENST00000317198:exon7:c.C636T:p.A212A,ENSG00000104529:ENST00000395119:exon7:c.C636T:p.A212A,ENSG00000104529:ENST00000524624:exon7:c.C564T:p.A188A,ENSG00000104529:ENST00000526838:exon7:c.C579T:p.A193A,ENSG00000104529:ENST00000529272:exon7:c.C636T:p.A212A,ENSG00000104529:ENST00000532741:exon7:c.C1884T:p.A628A,ENSG00000104529:ENST00000419152:exon8:c.C636T:p.A212A,ENSG00000104529:ENST00000534380:exon8:c.C636T:p.A212A,ENSG00000104529:ENST00000423316:exon9:c.C1734T:p.A578A,ENSG00000104529:ENST00000442189:exon9:c.C1734T:p.A578A Score=534;Name=lod=197 NA 8q24.3 NA NA NA NA rs1062391 0.43 0.43 0.376 0.374002 0.6163 0.3998 0.4539 0.0983 0.4141 0.62 0.36 0.53 0.15 0.5114 0.62 . . . . . . . . 0.000 P . . . . -0.940 T 0.000 T . 1.525 11.05 -0.8 -0.058 -0.747 4.35 1.524662 1.524662 NA 0.623284 0.173173 NA 0.384 NA 5.9156826 1060 1 22033152 22033152 G A intronic USP48 NA NA NA intronic ENSG00000090686 NA NA NA NA NA 1p36.12 NA Name=EBF,USF2,NRSF,c-Myc,Max,USF-1,EBF1_(C-8),CEBPB Name=77 NA rs41265993 0.04 0.04 0.032 0.0385383 0.0845 0.002 0.0418 0.0333 0.0337 0.08 0.0017 0.04 0.02 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023783 NA NA NA NA NA 0.022 NA 5.9155 1060 8 125487693 125487693 G T intronic RNF139 NA NA NA intronic ENSG00000170881 NA NA NA NA NA 8q24.13 NA Name=c-Myc,CTCF_(C-20),Ini1,CTCF_(SC-5916),Sin3Ak-20,HA-E2F1,CTCF,CTCFL_(SC-98982),Pol2(phosphoS2),Mxi1_(bHLH),Pol2 Name=107 NA rs72713053 0.1 0.1 0.106 0.0922524 0.0845 0.1419 0.0461 0.1157 0.0501 0.08 0.13 0.06 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.626819 2.626819 NA NA NA NA 0.072 NA 5.9155 1060 13 24696854 24696854 A G intergenic ANKRD20A19P,SPATA13 dist=173400;dist=38007 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=726;Name=lod=1194 NA 13q12.12 NA NA Name=2 NA rs4770595 0.27 0.27 0.245 0.249601 0.0845 0.3938 0.1902 0.3336 0.1994 0.12 0.41 0.22 0.37 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204957 NA NA NA NA NA 0.138 NA 5.9155 1061 2 220040330 220040330 A G exonic CNPPD1 NA synonymous SNV CNPPD1:NM_015680:exon3:c.T243C:p.Y81Y exonic ENSG00000115649 NA synonymous SNV ENSG00000115649:ENST00000360507:exon3:c.T243C:p.Y81Y,ENSG00000115649:ENST00000451647:exon3:c.T243C:p.Y81Y,ENSG00000115649:ENST00000409789:exon4:c.T243C:p.Y81Y,ENSG00000115649:ENST00000453038:exon4:c.T243C:p.Y81Y Score=629;Name=lod=479 NA 2q35 Score=796;Name=V$MYCMAX_03 NA NA NA rs1127101 0.42 0.42 0.387 0.401957 0.6163 0.2302 0.402 0.2421 0.5746 0.63 0.26 0.45 0.27 0.5332 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819823 NA NA 0.602442 0.29074 NA 0.493 NA 5.9147246 1061 5 141314250 141314250 G A intronic KIAA0141 NA NA NA intronic ENSG00000081791 NA NA NA NA NA 5q31.3 NA Name=ZNF263,GATA-2 Name=22 NA rs2286523 0.05 0.05 0.04 0.0607029 0.0855 0.0099 0.0447 0.0333 0.136 0.08 0.01 0.06 0.04 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548571 NA NA NA NA NA 0.051 NA 5.9145 1061 5 141330954 141330954 C T intronic PCDH12 NA NA NA intronic ENSG00000113555 NA NA NA NA NA 5q31.3 NA Name=CTCF,EBF1_(C-8),Rad21,CTCF_(C-20) Name=43 NA rs35153199 0.05 0.05 0.047 0.0547125 0.0855 0.0079 0.0461 0.0242 0.1186 0.08 0.01 0.06 0.03 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547677 NA NA NA NA NA 0.051 NA 5.9145 1061 19 18368810 18368810 G T exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon4:c.C3284A:p.P1095H,KIAA1683:NM_001145305:exon4:c.C2585A:p.P862H,KIAA1683:NM_025249:exon4:c.C2723A:p.P908H exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon4:c.C3284A:p.P1095H,ENSG00000130518:ENST00000600328:exon4:c.C2723A:p.P908H,ENSG00000130518:ENST00000600359:exon4:c.C2585A:p.P862H NA NA 19p13.11 NA NA NA NA rs999813 0.54 0.54 0.558 0.551118 0.4662 0.5536 0.6037 0.6876 0.4141 0.47 0.52 0.54 0.66 0.4983 0.67 0.17 T 0.0 B 0.001 B 0.897 N 1.000 P -0.55 N 4.03 T -1.054 T 0.000 T 0.095 0.416 6.262 -1.61 -0.155 -0.447 1.351 0.416402 NA 0.18 0.454789 0.673182 ID=COSM438967,COSM1480790;OCCURENCE=1(breast) 0.514 NA 5.9140444 1061 1 179520660 179520660 C G intronic AXDND1,NPHS2 NA NA NA intronic ENSG00000116218,ENSG00000162779 NA NA NA NA NA 1q25.2 NA Name=MafK_(ab50322),Max,AP-2gamma,BATF,CEBPB,EBF1_(C-8),EBF,eGFP-JunD,c-Fos,STAT3 Name=94 NA rs2274624 0.08 0.08 0.069 0.0710863 0.0865 0.0942 0.0519 0.0946 0.0133 0.09 0.08 0.05 0.08 NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11149 NA NA NA NA NA 0.08 NA 5.9135 1061 5 87498849 87498849 G A exonic TMEM161B NA synonymous SNV TMEM161B:NM_153354:exon9:c.C844T:p.L282L exonic ENSG00000164180 NA synonymous SNV ENSG00000164180:ENST00000511218:exon5:c.C298T:p.L100L,ENSG00000164180:ENST00000506536:exon8:c.C298T:p.L100L,ENSG00000164180:ENST00000509387:exon8:c.C463T:p.L155L,ENSG00000164180:ENST00000296595:exon9:c.C844T:p.L282L,ENSG00000164180:ENST00000514135:exon9:c.C844T:p.L282L,ENSG00000164180:ENST00000512429:exon10:c.C811T:p.L271L Score=692;Name=lod=867 NA 5q14.3 Score=888;Name=V$FREAC7_01 NA NA NA rs3097146 0.52 0.52 0.483 0.48103 0.5875 0.7897 0.6095 0.1036 0.4724 0.59 0.75 0.58 0.11 0.5602 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957073 NA NA 0.605581 0.191784 NA 0.536 NA 5.9133856 1061 14 58838701 58838701 C T exonic ARID4A NA synonymous SNV ARID4A:NM_023001:exon23:c.C3561T:p.C1187C,ARID4A:NM_002892:exon24:c.C3768T:p.C1256C,ARID4A:NM_023000:exon24:c.C3606T:p.C1202C exonic ENSG00000032219 NA synonymous SNV ENSG00000032219:ENST00000431317:exon22:c.C3561T:p.C1187C,ENSG00000032219:ENST00000348476:exon23:c.C3561T:p.C1187C,ENSG00000032219:ENST00000355431:exon24:c.C3768T:p.C1256C,ENSG00000032219:ENST00000395168:exon24:c.C3606T:p.C1202C Score=563;Name=lod=258 NA 14q23.1 Score=898;Name=V$AREB6_02 NA NA NA rs1051861 0.51 0.51 0.492 0.531949 0.5915 0.4762 0.683 0.3563 0.6585 0.57 0.47 0.64 0.36 0.5737 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320341 NA NA 0.588605 0.391966 NA 0.558 NA 5.9128616 1061 3 156983414 156983414 T C exonic VEPH1 NA synonymous SNV VEPH1:NM_001167911:exon12:c.A2031G:p.K677K,VEPH1:NM_001167912:exon13:c.A2166G:p.K722K,VEPH1:NM_024621:exon13:c.A2166G:p.K722K exonic ENSG00000197415 NA synonymous SNV ENSG00000197415:ENST00000392833:exon12:c.A2031G:p.K677K,ENSG00000197415:ENST00000543418:exon12:c.A2031G:p.K677K,ENSG00000197415:ENST00000362010:exon13:c.A2166G:p.K722K,ENSG00000197415:ENST00000392832:exon13:c.A2166G:p.K722K Score=616;Name=lod=424 NA 3q25.31 NA NA NA NA rs7652298 0.26 0.26 0.223 0.233626 0.2575 0.3323 0.4712 0.0522 0.184 0.25 0.36 0.42 0.07 0.2534 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22991 NA NA 0.242907 0.08965 ID=COSM149504;OCCURENCE=1(stomach) 0.159 NA 5.9128596 1061 1 157029134 157029134 T C intergenic ARHGEF11,ETV3L dist=13972;dist=32701 NA NA ncRNA_exonic ENSG00000237842 NA NA NA Score=880;Name=lod=5040 NA 1q23.1 NA Name=HNF4G_(SC-6558),HNF4A_(H-171),SP1,TCF4 NA NA rs61326781 0.05 0.05 0.058 0.0485224 0.0885 0.002 0.0288 0.0537 0.0624 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1677 NA NA NA NA NA 0.043 NA 5.9115 1061 3 149180009 149180009 C G intergenic TM4SF1,TM4SF4 dist=84441;dist=12359 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=313;Name=lod=25 NA 3q25.1 NA NA Name=6 NA rs79856226 0.05 0.05 0.053 0.0457268 0.0885 0.0268 0.0836 0.0121 0.0399 0.1 0.02 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19709 NA NA NA NA NA 0.08 NA 5.9115 1061 3 149180132 149180132 G A intergenic TM4SF1,TM4SF4 dist=84564;dist=12236 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=538;Name=lod=205 NA 3q25.1 NA NA Name=6 NA rs78984083 0.05 0.05 0.046 0.0459265 0.0885 0.0268 0.0836 0.0129 0.0399 0.1 0.02 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879068 NA NA NA NA NA 0.08 NA 5.9115 1061 3 149180176 149180176 G C intergenic TM4SF1,TM4SF4 dist=84608;dist=12192 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=538;Name=lod=205 NA 3q25.1 NA NA Name=6 NA rs77152704 0.06 0.06 0.055 0.047524 0.0885 0.0268 0.0836 0.0189 0.0399 0.1 0.02 0.06 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531855 NA NA NA NA NA 0.094 NA 5.9115 1061 11 113661422 113661422 A G intergenic CLDN25,USP28 dist=10215;dist=7175 NA NA ncRNA_exonic ENSG00000256167 NA NA NA Score=530;Name=lod=190 NA 11q23.2 NA Name=Pol2-4H8 NA NA rs1713674 0.05 0.05 0.031 0.0419329 0.0885 0.001 0.0749 0.0061 0.0613 0.1 NA 0.07 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702642 NA NA NA NA NA 0.123 NA 5.9115 1061 9 32630472 32630472 T C exonic TAF1L NA synonymous SNV TAF1L:NM_153809:exon1:c.A5106G:p.K1702K exonic ENSG00000122728 NA synonymous SNV ENSG00000122728:ENST00000242310:exon1:c.A5106G:p.K1702K Score=663;Name=lod=660 NA 9p21.1 NA NA NA NA rs10758145 0.34 0.34 0.354 0.346046 0.2435 0.3681 0.245 0.5106 0.2781 0.25 0.4 0.26 0.46 0.281 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342279 NA NA 0.23093 0.478212 NA 0.297 NA 5.9112366 1061 7 5036758 5036758 A C ncRNA_exonic RNF216P1 NA NA NA ncRNA_exonic ENSG00000196204 NA NA NA Score=470;Name=lod=108 NA 7p22.1 NA Name=CTCF NA NA rs9639895 0.77 0.77 0.789 0.742412 0.7555 0.6637 0.6859 0.8971 0.6411 0.76 0.7 0.72 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406408 NA NA NA NA NA 0.688 NA 5.9111666 1061 2 231042276 231042276 A G exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon14:c.T1568C:p.M523T,SP110:NM_004510:exon14:c.T1568C:p.M523T,SP110:NM_080424:exon14:c.T1568C:p.M523T,SP110:NM_001185015:exon15:c.T1586C:p.M529T exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000338556:exon13:c.T674C:p.M225T,ENSG00000135899:ENST00000258381:exon14:c.T1568C:p.M523T,ENSG00000135899:ENST00000258382:exon14:c.T1568C:p.M523T,ENSG00000135899:ENST00000358662:exon14:c.T1568C:p.M523T,ENSG00000135899:ENST00000392048:exon14:c.T1562C:p.M521T,ENSG00000135899:ENST00000540870:exon15:c.T1586C:p.M529T NA NA 2q37.1 NA NA NA NA rs1135791 0.34 0.34 0.324 0.32488 0.496 0.1677 0.3545 0.208 0.4479 0.49 0.17 0.4 0.24 0.4256 0.5 0.42 T 0.0 B 0.0 B 0.966 N 1.000 P -0.625 N -0.46 T -0.948 T 0.000 T 0.04 -0.193 3.063 -0.782 -0.498 -0.527 0.294 -0.192867 NA 0.38 0.500698 0.255107 NA 0.391 NA 5.9110354 1061 12 122611934 122611934 C T intronic MLXIP NA NA NA intronic ENSG00000175727 NA NA NA NA NA 12q24.31 NA Name=Rad21,CTCF,CTCF_(SC-5916) Name=24 NA rs113864314 0.01 0.01 0.015 0.00758786 0.0268 NA 0.0086 0.0015 0.0031 0.03 NA 0.01 NA 0.0297 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106753 NA NA 0.032469 0.00578 NA 0.007 NA 5.911031 1061 10 123673339 123673339 T C exonic ATE1 NA synonymous SNV ATE1:NM_001001976:exon4:c.A303G:p.L101L,ATE1:NM_007041:exon4:c.A303G:p.L101L exonic ENSG00000107669 NA synonymous SNV ENSG00000107669:ENST00000369040:exon2:c.A15G:p.L5L,ENSG00000107669:ENST00000224652:exon4:c.A303G:p.L101L,ENSG00000107669:ENST00000369043:exon4:c.A303G:p.L101L,ENSG00000107669:ENST00000455628:exon4:c.A282G:p.L94L,ENSG00000107669:ENST00000540606:exon4:c.A282G:p.L94L Score=598;Name=lod=360 NA 10q26.13 NA NA NA NA rs10749435 0.9 0.9 0.915 0.899161 0.9245 0.9286 0.7839 0.9017 0.9213 0.92 0.93 0.85 0.9 0.903 0.95 . . . . . . . . 0.000 P . . . . -1.041 T 0.000 T . 1.068 9.362 2.56 0.415 0.371 1.981 1.068345 NA NA 0.928256 0.889923 NA 0.964 NA 5.9109106 1061 8 139149406 139149406 G A exonic FAM135B NA synonymous SNV FAM135B:NM_015912:exon19:c.C3999T:p.L1333L exonic ENSG00000147724 NA synonymous SNV ENSG00000147724:ENST00000395297:exon19:c.C3999T:p.L1333L Score=502;Name=lod=146 NA 8q24.23 NA NA NA NA rs6577876 0.19 0.19 0.207 0.196486 0.2575 0.0139 0.2017 0.3101 0.1646 0.24 0.01 0.24 0.29 0.2258 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897635 NA NA 0.272561 0.305317 NA 0.348 NA 5.9108056 1061 2 20403949 20403949 C T exonic SDC1 NA synonymous SNV SDC1:NM_002997:exon3:c.G252A:p.E84E,SDC1:NM_001006946:exon4:c.G252A:p.E84E exonic ENSG00000115884 NA synonymous SNV ENSG00000115884:ENST00000254351:exon3:c.G252A:p.E84E,ENSG00000115884:ENST00000403076:exon3:c.G252A:p.E84E,ENSG00000115884:ENST00000429035:exon3:c.G276A:p.E92E,ENSG00000115884:ENST00000381150:exon4:c.G252A:p.E84E NA NA 2p24.1 NA NA Name=2 NA rs2230924 0.2 0.2 0.203 0.173922 0.2634 0.0843 0.2421 0.1513 0.1564 0.27 0.09 0.28 0.16 0.2242 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036761 NA NA 0.268318 0.169088 NA 0.174 NA 5.9107486 1061 5 52502644 52502644 G A intergenic LOC257396,FST dist=91692;dist=273620 NA NA ncRNA_exonic ENSG00000213940 NA NA NA Score=721;Name=lod=1130 NA 5q11.2 NA NA Name=2 NA rs251513 0.13 0.13 0.097 0.119209 0.0895 0.2282 0.1369 0.0408 0.1309 0.08 0.27 0.11 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556319 NA NA NA NA NA 0.152 NA 5.9105 1061 14 23939432 23939432 G A intronic NGDN NA NA NA intronic ENSG00000129460 NA NA NA NA NA 14q11.2 NA Name=JunD,c-Jun Name=2 NA rs2295705 0.14 0.14 0.124 0.127596 0.0895 0.2331 0.2017 0.0446 0.1176 0.1 0.23 0.19 0.04 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087885 NA NA NA NA NA 0.072 NA 5.9105 1061 8 22974325 22974325 G A exonic TNFRSF10C NA synonymous SNV TNFRSF10C:NM_003841:exon5:c.G561A:p.P187P exonic ENSG00000173535 NA synonymous SNV ENSG00000173535:ENST00000540813:exon4:c.G255A:p.P85P,ENSG00000173535:ENST00000356864:exon5:c.G561A:p.P187P Score=278;Name=lod=18 NA 8p21.3 NA NA NA NA rs11780493 0.62 0.62 0.69 NA NA NA NA NA NA 0.67 0.67 0.71 0.44 0.7562 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386602 NA NA NA NA NA NA NA 5.9104666 1061 1 43636484 43636484 C G exonic EBNA1BP2 NA synonymous SNV EBNA1BP2:NM_006824:exon4:c.G390C:p.T130T,EBNA1BP2:NM_001159936:exon5:c.G555C:p.T185T exonic ENSG00000117395 NA synonymous SNV ENSG00000117395:ENST00000236051:exon4:c.G390C:p.T130T,ENSG00000117395:ENST00000431635:exon5:c.G555C:p.T185T Score=469;Name=lod=107 NA 1p34.2 NA NA NA NA rs1049276 0.17 0.17 0.158 0.140775 0.2883 NA 0.1513 0.1278 0.1442 0.31 NA 0.19 0.13 0.2106 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782388 NA NA 0.257674 0.119383 NA 0.304 NA 5.9100926 1061 15 78789488 78789488 C T exonic IREB2 NA synonymous SNV IREB2:NM_004136:exon21:c.C2616T:p.A872A exonic ENSG00000136381 NA synonymous SNV ENSG00000136381:ENST00000258886:exon21:c.C2616T:p.A872A Score=642;Name=lod=543 Name=Chronic obstructive pulmonary disease 15q25.1 NA NA NA NA rs13180 0.48 0.48 0.447 0.43111 0.6004 0.4633 0.451 0.2375 0.4714 0.61 0.48 0.52 0.25 0.5439 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080952 NA NA 0.612276 0.314891 NA 0.514 NA 5.9100906 1061 11 60543367 60543367 C G UTR3 MS4A15 NM_001098835:c.*179C>G,NM_152717:c.*179C>G NA NA UTR3 ENSG00000166961 ENST00000337911:c.*179C>G,ENST00000429322:c.*625C>G,ENST00000405633:c.*179C>G NA NA NA NA 11q12.2 NA Name=EBF1_(C-8),EBF Name=15 NA rs17628721 0.26 0.26 0.265 0.267971 0.4235 0.1171 0.2536 0.2345 0.319 0.42 0.1 0.25 0.2 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024623 NA NA NA NA NA 0.239 NA 5.9098334 1061 19 41932084 41932084 G T exonic B3GNT8 NA synonymous SNV B3GNT8:NM_198540:exon3:c.C600A:p.A200A exonic ENSG00000177191 NA synonymous SNV ENSG00000177191:ENST00000321702:exon3:c.C600A:p.A200A Score=405;Name=lod=59 NA 19q13.2 Score=867;Name=V$IK1_01 NA NA NA rs284660 0.5 0.5 0.49 0.491014 0.5865 0.4306 0.4467 0.41 0.5961 0.58 0.46 0.52 0.4 0.563 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443311 1.443311 NA 0.607558 0.441217 NA 0.246 NA 5.9096086 1061 11 5411239 5411239 T C exonic OR51M1 NA nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T611C:p.I204T exonic ENSG00000184698 NA nonsynonymous SNV ENSG00000184698:ENST00000328611:exon1:c.T611C:p.I204T NA NA 11p15.4 NA NA NA NA rs1498469 0.7 0.7 0.702 0.714457 0.8231 0.5476 0.7349 0.7383 0.728 0.81 0.54 0.75 0.7 0.7729 0.83 1 T . . . . 0.003 N 0.789 P . . 9.05 T -1.027 T 0.000 T 0.022 -1.761 0.01 4.34 0.782 -0.611 9.343 -1.760733 NA 1 0.827894 0.784585 NA 0.71 NA 5.9094394 1061 12 133352907 133352907 T C intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA Score=487;Name=lod=127 NA 12q24.33 NA NA Name=2 NA rs56366280 NA NA 0.1 0.171725 0.0915 0.3373 0.2017 0.1543 0.0859 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007466 NA NA NA NA NA 0.014 NA 5.9085 1061 16 817481 817481 C T intronic MSLN NA NA NA intronic ENSG00000102854 NA NA NA NA NA 16p13.3 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322),ZBTB7A_(SC-34508) Name=2 NA rs142937997 0.02 0.02 0.022 0.0123802 0.0368 0.004 0.0259 0.0015 0.001 0.03 NA 0.03 0.01 0.0206 0.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51644 NA NA 0.034189 0.006874 NA 0.007 NA 5.908411 1061 4 69727258 69727258 G C intergenic UGT2B10,UGT2A3 dist=29517;dist=66919 NA NA ncRNA_exonic ENSG00000249235 NA NA NA Score=259;Name=lod=15 NA 4q13.2 Score=853;Name=V$MRF2_01 NA NA NA rs79226128 0.13 0.13 0.12 0.114217 0.0924 0.1756 0.0836 0.1407 0.0593 0.11 0.17 0.09 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04206 NA NA NA NA NA 0.159 NA 5.9076 1061 10 50916542 50916542 C T exonic C10orf53 NA nonsynonymous SNV C10orf53:NM_182554:exon3:c.C353T:p.T118I exonic ENSG00000178645 NA nonsynonymous SNV ENSG00000178645:ENST00000374112:exon3:c.C353T:p.T118I,ENSG00000178645:ENST00000535836:exon3:c.C353T:p.T118I NA NA 10q11.23 NA NA NA NA rs4838554 0.38 0.38 0.389 0.390974 0.495 0.1548 0.4611 0.4365 0.4162 0.5 0.14 0.42 0.45 0.4481 0.5 0.63 T 0.0 B 0.0 B . . 1.000 P 0 N . . -0.917 T 0.000 T 0.029 -2.455 0.003 -0.507 -0.926 -0.916 4.466 -2.454822 NA 0.68 0.482674 0.452792 NA 0.413 NA 5.9075594 1061 19 17111297 17111297 A G exonic CPAMD8 NA nonsynonymous SNV CPAMD8:NM_015692:exon10:c.T935C:p.M312T exonic ENSG00000160111 NA nonsynonymous SNV ENSG00000160111:ENST00000291440:exon10:c.T935C:p.M312T,ENSG00000160111:ENST00000388925:exon10:c.T794C:p.M265T,ENSG00000160111:ENST00000443236:exon10:c.T935C:p.M312T NA NA 19p13.11 NA NA NA NA rs4808551 0.74 0.74 0.743 0.748403 0.832 0.6845 0.7824 0.8253 0.6002 0.8 0.62 0.78 0.76 0.7788 0.83 0.86 T 0.0 B 0.0 B 0.379 N 1.000 P -1.725 N 0.94 T -1.003 T 0.000 T 0.18 -3.651 0.001 -2.0 -0.520 0.738 9.757 -3.651325 NA 0.89 0.815681 0.832817 NA 0.739 NA 5.9068524 1061 11 110035262 110035262 A G exonic ZC3H12C NA synonymous SNV ZC3H12C:NM_033390:exon6:c.A1452G:p.R484R exonic ENSG00000149289 NA synonymous SNV ENSG00000149289:ENST00000453089:exon5:c.A1359G:p.R453R,ENSG00000149289:ENST00000278590:exon6:c.A1452G:p.R484R,ENSG00000149289:ENST00000528673:exon6:c.A1455G:p.R485R Score=479;Name=lod=118 NA 11q22.3 NA NA NA NA rs1026608 0.25 0.25 0.246 0.220248 0.2724 0.2004 0.2161 0.2186 0.1922 0.26 0.22 0.25 0.25 0.2357 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696169 NA NA 0.252175 0.208851 NA 0.246 NA 5.9063916 1061 20 47713063 47713063 C T UTR3 CSE1L NM_001316:c.*88C>T,NM_001256135:c.*88C>T NA NA UTR3 ENSG00000124207 ENST00000262982:c.*88C>T,ENST00000542325:c.*88C>T NA NA Score=259;Name=lod=15 NA 20q13.13 NA NA Name=10 NA rs17632 0.36 0.36 0.348 0.363019 0.4274 0.3304 0.3732 0.3359 0.3599 0.43 0.29 0.4 0.31 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.890723 1.890723 NA NA NA NA 0.326 NA 5.9059334 1061 5 179260528 179260528 T C intronic SQSTM1 NA NA NA intronic ENSG00000161011 NA NA NA NA NA 5q35.3 NA Name=Pol2 Name=7 NA rs155788 0.19 0.19 0.186 0.192492 0.0944 0.1101 0.1585 0.4599 0.0409 0.08 0.12 0.17 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357252 NA NA NA NA NA 0.283 NA 5.9056 1061 6 145156780 145156780 G C intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) Name=7 NA rs9403616 0.2 0.2 0.209 0.205471 0.0944 0.4514 0.1196 0.1067 0.2607 0.11 0.45 0.13 0.13 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681754 NA NA NA NA NA 0.094 NA 5.9056 1061 17 77078871 77078871 C A intronic ENGASE NA NA NA UTR3 ENSG00000167280 ENST00000300682:c.*543C>A NA NA NA NA 17q25.3 NA Name=TCF12,CTCF_(C-20),CTCF_(SC-5916),CTCF,Rad21,SMC3_(ab9263),HMGN3,GABP,Znf143_(16618-1-AP),CTCFL_(SC-98982) Name=60 NA rs74001528 0.11 0.11 0.089 0.123003 0.1054 0.0387 0.1715 0.1611 0.1421 0.11 0.04 0.15 0.15 0.1562 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363405 NA NA NA NA NA 0.152 NA 5.9050667 1062 4 189065128 189065128 T C intronic TRIML1 NA NA NA intronic ENSG00000184108 NA NA NA NA NA 4q35.2 NA Name=NRSF Name=3 NA rs61075538 0.18 0.18 0.168 0.176518 0.0954 0.246 0.1066 0.2564 0.1299 0.09 0.26 0.13 0.25 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.971546 NA NA NA NA ID=COSN167394;OCCURENCE=1(large_intestine) 0.174 NA 5.9046 1062 12 94534382 94534382 G A intergenic CRADD,PLXNC1 dist=289851;dist=8117 NA NA ncRNA_exonic ENSG00000257360 NA NA NA Score=706;Name=lod=988 NA 12q22 NA Name=CTCF NA NA rs11107416 0.05 0.05 0.044 0.0517173 0.0954 0.0238 0.049 0.0053 0.1002 0.1 0.02 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330975 NA NA NA NA NA 0.08 NA 5.9046 1062 19 23433107 23433107 G C ncRNA_exonic ZNF724P NA NA NA UTR5 ENSG00000196081 ENST00000418100:c.-63C>G,ENST00000597537:c.-18027C>G,ENST00000597037:c.-63C>G NA NA NA NA 19p12 NA Name=ELF1_(SC-631),CHD2_(N-1250),NF-YA,TAF1,GABP,Pol2,TAF7_(SQ-8),HEY1,TBP,Pol2-4H8,HA-E2F1,Sin3Ak-20 Name=146 NA rs10405424 0.56 0.56 0.535 0.541134 0.5954 0.6627 0.6412 0.329 0.5757 0.62 0.67 0.6 0.33 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349416 NA NA NA NA NA 0.449 NA 5.9046 1062 19 33584491 33584491 C T intronic GPATCH1 NA NA NA intronic ENSG00000076650 NA NA NA NA NA 19q13.11 NA Name=eGFP-GATA2,eGFP-JunD Name=2 NA rs12460349 0.19 0.19 0.192 0.257987 0.0954 0.1687 0.1297 0.4486 0.3507 0.09 0.14 0.14 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676858 NA NA NA NA NA 0.188 NA 5.9046 1062 1 47571905 47571905 C T exonic CYP4Z1 NA synonymous SNV CYP4Z1:NM_178134:exon9:c.C1173T:p.T391T exonic ENSG00000186160 NA synonymous SNV ENSG00000186160:ENST00000334194:exon9:c.C1173T:p.T391T Score=431;Name=lod=75 NA 1p33 NA NA NA NA rs28463559 0.51 0.51 0.471 0.579473 0.339 0.9563 0.4654 0.4766 0.6585 0.31 0.9 0.38 0.45 0.4241 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.698416 1.698416 NA NA NA NA 0.406 NA 5.9035666 1062 11 11373960 11373960 C T exonic CSNK2A3 NA nonsynonymous SNV CSNK2A3:NM_001256686:exon1:c.G707A:p.R236H exonic ENSG00000254598 NA nonsynonymous SNV ENSG00000254598:ENST00000528848:exon1:c.G707A:p.R236H Score=734;Name=lod=1283 NA 11p15.3 NA NA NA NA rs2071461 0.64 0.64 0.634 0.625 0.7256 0.6607 0.6326 0.4123 0.7669 0.72 0.69 0.68 0.44 0.7044 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.397846 NA NA NA NA NA 0.507 NA 5.9033334 1062 14 72939735 72939735 C T intronic RGS6 NA NA NA intronic ENSG00000182732 NA NA NA NA NA 14q24.2 NA Name=CTCF Name=12 NA rs10131497 0.12 0.12 0.111 0.141973 0.0974 0.1349 0.1614 0.1377 0.1871 0.1 0.1 0.16 0.13 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061722 NA NA NA NA NA 0.167 NA 5.9026 1062 6 150390213 150390213 G A upstream ULBP3 NA NA NA UTR5 ENSG00000131019 ENST00000367339:c.-11C>T NA NA NA NA 6q25.1 NA Name=ZBTB33,JunD,TAF1,BRCA1_(C-1863),YY1_(C-20),Pol2-4H8,E2F6,SP1,Pol2,c-Myc,TBP,CHD2_(N-1250) Name=140 NA rs139986011 0.02 0.02 0.003 0.0139776 0.0388 NA 0.0202 0.0015 0.0153 0.04 NA 0.02 NA 0.0274 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086349 NA NA 0.031912 0.005682 NA 0.014 NA 5.901888 1062 2 215865575 215865575 T C exonic ABCA12 NA synonymous SNV ABCA12:NM_015657:exon14:c.A2079G:p.P693P,ABCA12:NM_173076:exon22:c.A3033G:p.P1011P exonic ENSG00000144452 NA synonymous SNV ENSG00000144452:ENST00000389661:exon14:c.A2079G:p.P693P,ENSG00000144452:ENST00000272895:exon22:c.A3033G:p.P1011P Score=538;Name=lod=205 NA 2q35 NA NA NA NA rs10498030 0.22 0.22 0.198 0.195487 0.2773 0.3433 0.1945 0.0174 0.2004 0.28 0.34 0.2 0.03 0.2331 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879871 NA NA 0.254767 0.050159 NA 0.21 NA 5.9014996 1062 1 1849529 1849529 A G exonic TMEM52 NA nonsynonymous SNV TMEM52:NM_178545:exon5:c.T422C:p.M141T exonic ENSG00000178821 NA nonsynonymous SNV ENSG00000178821:ENST00000378602:exon2:c.T377C:p.M126T,ENSG00000178821:ENST00000310991:exon5:c.T422C:p.M141T NA NA 1p36.33 NA NA NA NA rs28640257 0.39 0.39 0.326 0.352037 0.4901 0.4623 0.5072 0.053 0.3906 0.49 0.45 0.51 0.07 0.4434 0.51 0.52 T 0.01 B 0.008 B 0.012 N 1.000 P 0.55 N 1.49 T -0.913 T 0.000 T 0.05 -0.081 3.602 0.201 0.143 0.105 3.361 -0.081358 NA 0.17 0.498605 0.120744 ID=COSM146377;OCCURENCE=1(breast),1(stomach) 0.261 NA 5.9012284 1062 15 43017426 43017426 T G exonic CDAN1 NA synonymous SNV CDAN1:NM_138477:exon27:c.A3474C:p.L1158L exonic ENSG00000140326 NA synonymous SNV ENSG00000140326:ENST00000356231:exon27:c.A3474C:p.L1158L Score=533;Name=lod=196 NA 15q15.2 NA NA NA NA rs16957091 0.4 0.4 0.438 0.461462 0.2346 0.254 0.1916 0.9554 0.4325 0.24 0.25 0.2 0.95 0.3038 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.243097 1.243097 NA 0.227378 0.826146 NA 0.428 NA 5.9008886 1062 5 6632875 6632875 G A intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA Name=AP-2gamma,CTCF,AP-2alpha Name=28 NA rs10076470 0.31 0.31 0.281 0.276757 0.3936 0.1567 0.389 0.2852 0.1892 0.38 0.15 0.42 0.31 0.3325 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067734 NA NA 0.373023 0.300045 NA 0.442 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117862.2;CLNDSDB=.;CLNDSDBID=. 5.900877 1062 17 2606715 2606715 G A exonic CLUH NA synonymous SNV CLUH:NM_015229:exon3:c.C258T:p.R86R exonic ENSG00000132361 NA synonymous SNV ENSG00000132361:ENST00000575014:exon1:c.C54T:p.R18R,ENSG00000132361:ENST00000538975:exon2:c.C258T:p.R86R,ENSG00000132361:ENST00000435359:exon3:c.C258T:p.R86R,ENSG00000132361:ENST00000570628:exon3:c.C258T:p.R86R,ENSG00000132361:ENST00000572414:exon3:c.C372T:p.R124R,ENSG00000132361:ENST00000574426:exon3:c.C372T:p.R124R,ENSG00000132361:ENST00000576309:exon3:c.C258T:p.R86R,ENSG00000132361:ENST00000576885:exon3:c.C258T:p.R86R Score=519;Name=lod=171 NA 17p13.3 NA NA Name=2 NA rs1065479 0.51 0.51 0.491 0.488818 0.5696 0.5248 0.6354 0.2882 0.5358 0.57 0.55 0.62 0.27 0.5735 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.552906 1.552906 NA 0.622803 0.341379 NA 0.471 NA 5.9007636 1062 2 192701393 192701393 A G exonic SDPR NA synonymous SNV SDPR:NM_004657:exon2:c.T534C:p.G178G exonic ENSG00000168497 NA synonymous SNV ENSG00000168497:ENST00000304141:exon2:c.T534C:p.G178G Score=243;Name=lod=13 NA 2q32.3 NA NA Name=21 NA rs10167187 0.62 0.62 0.586 0.633786 0.5795 0.7609 0.6686 0.5121 0.6984 0.57 0.75 0.64 0.53 0.6054 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806702 NA NA 0.581065 0.505901 NA 0.507 NA 5.9007016 1062 11 12225946 12225946 T G exonic MICAL2 NA synonymous SNV MICAL2:NM_014632:exon4:c.T414G:p.R138R exonic ENSG00000133816 NA synonymous SNV ENSG00000133816:ENST00000379612:exon2:c.T414G:p.R138R,ENSG00000133816:ENST00000342902:exon3:c.T414G:p.R138R,ENSG00000133816:ENST00000527546:exon3:c.T414G:p.R138R,ENSG00000133816:ENST00000256194:exon4:c.T414G:p.R138R,ENSG00000133816:ENST00000537344:exon4:c.T414G:p.R138R Score=719;Name=lod=1117 NA 11p15.3 Score=895;Name=V$NF1_Q6 NA NA NA rs3763823 0.69 0.69 0.676 0.701078 0.5905 0.6508 0.7089 0.8911 0.6043 0.58 0.67 0.7 0.89 0.6161 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.608765 1.608765 NA 0.559385 0.836665 ID=COSM1352045;OCCURENCE=1(large_intestine) 0.688 NA 5.9006816 1062 17 46988044 46988044 G A intronic UBE2Z NA NA NA UTR5 ENSG00000159202 ENST00000511373:c.-133G>A NA NA Score=389;Name=lod=51 NA 17q21.32 NA NA Name=16 NA rs999475 0.24 0.24 0.217 0.234225 0.2664 0.1746 0.4078 0.1974 0.1892 0.26 0.16 0.4 0.2 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.743623 3.743623 NA NA NA NA 0.333 NA 5.9002667 1062 19 10102375 10102375 G C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA Name=EBF1_(C-8),EBF,PAX5-C20 Name=2 NA rs10411233 0.06 0.06 0.052 0.0561102 0.0278 0.0377 0.0562 0.1286 0.0061 0.03 0.04 0.05 0.12 0.0396 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60149 NA NA 0.032442 0.110077 NA 0.116 NA 5.900158 1062 18 5410574 5410574 A G exonic EPB41L3 NA synonymous SNV EPB41L3:NM_012307:exon14:c.T2112C:p.T704T exonic ENSG00000082397 NA synonymous SNV ENSG00000082397:ENST00000400111:exon13:c.T1605C:p.T535T,ENSG00000082397:ENST00000540638:exon13:c.T1605C:p.T535T,ENSG00000082397:ENST00000544123:exon13:c.T1605C:p.T535T,ENSG00000082397:ENST00000341928:exon14:c.T2112C:p.T704T,ENSG00000082397:ENST00000342933:exon14:c.T2112C:p.T704T Score=477;Name=lod=116 NA 18p11.31 Score=690;Name=V$BRACH_01 NA NA NA rs3817466 0.76 0.76 NA 0.711661 0.9135 0.9177 0.8156 0.2791 0.8027 0.92 0.91 0.83 0.28 0.8531 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820529 NA NA NA NA NA 0.674 NA 5.9000666 1062 6 109786980 109786980 T C UTR3 ZBTB24 NM_014797:c.*74A>G NA NA UTR5;UTR3 ENSG00000135596;ENSG00000112365 ENST00000368952:c.-100A>G;ENST00000230122:c.*74A>G NA NA NA NA 6q21 NA Name=c-Myc Name=9 NA rs3734652 0.55 0.55 0.554 0.5627 0.4334 0.498 0.4928 0.7542 0.5532 0.44 0.56 0.49 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.815859 1.815859 NA NA NA NA 0.507 NA 5.8999334 1062 1 145112485 145112485 C T exonic SEC22B NA unknown UNKNOWN ncRNA_exonic ENSG00000223380 NA NA NA Score=698;Name=lod=912 NA 1q21.1 NA NA Name=5 NA rs2794039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4995 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.906022 2.906022 NA 0.433993 0.400189 NA 0.13 NA 5.8998403 1062 8 55541617 55541617 A G exonic RP1 NA synonymous SNV RP1:NM_006269:exon4:c.A5175G:p.Q1725Q exonic ENSG00000104237 NA synonymous SNV ENSG00000104237:ENST00000220676:exon4:c.A5175G:p.Q1725Q NA NA 8q12.1 NA NA NA NA rs441800 0.26 0.26 0.261 0.240815 0.2604 0.4415 0.2709 0.056 0.2423 0.25 0.44 0.24 0.09 0.2511 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.728848 NA NA 0.255814 0.091693 NA 0.145 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081374.1;CLNDSDB=.;CLNDSDBID=. 5.8993526 1062 11 110035301 110035301 A G exonic ZC3H12C NA synonymous SNV ZC3H12C:NM_033390:exon6:c.A1491G:p.T497T exonic ENSG00000149289 NA synonymous SNV ENSG00000149289:ENST00000453089:exon5:c.A1398G:p.T466T,ENSG00000149289:ENST00000278590:exon6:c.A1491G:p.T497T,ENSG00000149289:ENST00000528673:exon6:c.A1494G:p.T498T Score=726;Name=lod=1188 NA 11q22.3 NA NA NA NA rs1026607 0.27 0.27 0.279 0.24401 0.2724 0.2004 0.2248 0.3041 0.1922 0.26 0.22 0.25 0.34 0.2426 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406689 NA NA 0.25291 0.286236 NA 0.297 NA 5.8987566 1062 1 20980922 20980922 G A intronic DDOST NA NA NA intronic ENSG00000244038 NA NA NA NA NA 1p36.12 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=15 NA rs2070658 0.11 0.11 0.089 0.105431 0.1014 0.1736 0.17 0.0106 0.1217 0.11 0.17 0.13 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383797 NA NA NA NA NA 0.094 NA 5.8986 1062 3 197409542 197409542 T C intronic KIAA0226 NA NA NA intronic ENSG00000145016 NA NA NA Score=278;Name=lod=18 NA 3q29 Score=852;Name=V$TAL1BETAE47_01 NA NA NA rs75643488 0.09 0.09 0.075 0.0848642 0.1024 0.0308 0.0504 0.1195 0.1002 0.11 0.05 0.05 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390656 1.390656 NA NA NA NA 0.145 NA 5.8976 1062 14 81712844 81712844 C G intergenic GTF2A1,STON2 dist=25269;dist=14150 NA NA ncRNA_exonic ENSG00000205579 NA NA NA Score=565;Name=lod=263 NA 14q31.1 NA NA Name=32 NA rs12891586 0.07 0.07 0.072 0.0688898 0.1024 0.0099 0.0663 0.0938 0.0634 0.12 0.01 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791908 NA 0.21 NA NA NA 0.043 NA 5.8976 1062 2 201994540 201994540 C T UTR5 CFLAR NM_003879:c.-49C>T,NM_001202516:c.-49C>T,NM_001127184:c.-49C>T,NM_001127183:c.-49C>T NA NA UTR5 ENSG00000003402 ENST00000309955:c.-49C>T,ENST00000340870:c.-49C>T,ENST00000355558:c.-49C>T,ENST00000341222:c.-49C>T,ENST00000341582:c.-49C>T,ENST00000342795:c.-49C>T,ENST00000395148:c.-49C>T,ENST00000441224:c.-49C>T,ENST00000433445:c.-49C>T,ENST00000423241:c.-49C>T,ENST00000439154:c.-49C>T,ENST00000425030:c.-49C>T,ENST00000417748:c.-49C>T,ENST00000440180:c.-49C>T NA NA NA NA 2q33.1 NA Name=TAF1,YY1,Pol2,Pol2-4H8,NFKB,TBP Name=85 NA rs10931931 0.17 0.17 0.201 0.173123 0.1561 0.0139 0.1412 0.4297 0.0307 0.16 0.0035 0.15 0.4 0.1329 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511095 NA NA 0.147442 0.350885 NA 0.181 NA 5.8968914 1062 15 31108789 31108789 C T intergenic LOC100288637,HERC2P10 dist=43580;dist=1450 NA NA ncRNA_exonic ENSG00000259845 NA NA NA Score=620;Name=lod=442 NA 15q13.2 Score=971;Name=V$MYOD_01 NA NA NA rs11070619 0.11 0.11 0.101 0.11861 0.1034 0.0248 0.0807 0.2428 0.09 0.1 0.03 0.1 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240382 NA NA NA NA NA 0.043 NA 5.8966 1062 6 157744588 157744588 C G UTR5 TMEM242 NM_018452:c.-57G>C NA NA UTR5 ENSG00000215712 ENST00000400788:c.-57G>C,ENST00000367144:c.-57G>C NA NA NA NA 6q25.3 NA Name=Sin3Ak-20,HA-E2F1,Pol2-4H8,ZNF263,HDAC2_(SC-6296),KAP1,RFX5_(N-494),Egr-1,YY1,ELK4,ZZZ3,HNF4A_(H-171),FOXA1_(C-20),FOSL2,JunD,Pol2(b),TBP,IRF1,TCF12,USF-1,GTF2B,THAP1_(SC-98174),PAX5-N19,PAX5-C20,SIX5,SRF,c-Myc,CCNT2,NFKB,HEY1,ZEB1_(SC-25388),BCL3,BCLAF1_(M33-P5B11),TAF7_(SQ-8),YY1_(C-20),TR4,USF1_(SC-8983),IRF4_(M-17),eGFP-JunD,GATA3_(SC-268),MEF2A,SP1,NRSF,Pol2,MEF2C_(SC-13268),TCF4,Pol2(phosphoS2),POU2F2,E2F4,WHIP,ZBTB33,HMGN3,GABP,E2F6_(H-50),ETS1,TAF1,GATA-1,Znf143_(16618-1-AP),CTCFL_(SC-98982),MafK_(SC-477),CHD2_(N-1250),GTF2F1_(RAP-74),RXRA,CEBPB,CTCF,p300,EBF1_(C-8),HNF4G_(SC-6558),Oct-2,STAT1,Max,GR,Rad21,ELF1_(SC-631),FOXA1_(SC-101058) Name=148 NA rs4708868 0.33 0.33 0.318 0.327276 0.2197 0.5456 0.353 0.2632 0.2812 0.22 0.58 0.33 0.22 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477475 NA NA 0.217473 0.273121 NA 0.254 NA 5.8961604 1062 16 66432424 66432424 C T exonic CDH5 NA synonymous SNV CDH5:NM_001795:exon10:c.C1551T:p.I517I exonic ENSG00000179776 NA synonymous SNV ENSG00000179776:ENST00000341529:exon10:c.C1551T:p.I517I Score=329;Name=lod=29 NA 16q21 NA NA NA NA rs3826229 NA NA 0.01 0.415136 0.3678 0.5506 0.4409 0.3979 0.3292 NA NA NA NA 0.3897 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606918 NA NA 0.013023 0.021808 ID=COSM1378765;OCCURENCE=1(large_intestine) NA NA 5.8961436 1063 6 53519857 53519857 G A exonic KLHL31 NA synonymous SNV KLHL31:NM_001003760:exon2:c.C214T:p.L72L exonic ENSG00000124743 NA synonymous SNV ENSG00000124743:ENST00000407079:exon1:c.C214T:p.L72L,ENSG00000124743:ENST00000370905:exon2:c.C214T:p.L72L Score=603;Name=lod=377 NA 6p12.1 NA NA Name=8 NA rs12210809 0.5 0.5 0.459 0.490415 0.5924 0.5982 0.6729 0.1694 0.5787 0.57 0.6 0.65 0.17 0.5738 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250602 NA NA 0.606279 0.235588 NA 0.522 NA 5.8941876 1063 12 56115778 56115778 C A ncRNA_intronic BLOC1S1-RDH5 NA NA NA UTR3 ENSG00000258311 ENST00000550412:c.*288C>A,ENST00000551946:c.*419C>A NA NA NA NA 12q13.2 NA Name=Pol2 Name=4 NA rs3138141 0.11 0.11 0.098 0.153554 0.1918 0.119 0.1066 0.0098 0.3773 0.2 0.08 0.1 0.02 0.2025 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.694116 1.694116 NA 0.212674 0.048797 NA 0.065 NA 5.893026 1063 10 99141484 99141484 C T exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon9:c.G1125A:p.T375T,RRP12:NM_015179:exon11:c.G1308A:p.T436T exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon5:c.G462A:p.T154T,ENSG00000052749:ENST00000315563:exon8:c.G1008A:p.T336T,ENSG00000052749:ENST00000414986:exon9:c.G1125A:p.T375T,ENSG00000052749:ENST00000370992:exon11:c.G1308A:p.T436T Score=462;Name=lod=101 NA 10q24.1 NA NA NA NA rs12218483 0.24 0.24 0.233 0.26278 0.2604 0.3125 0.2579 0.1377 0.3865 0.26 0.28 0.25 0.14 0.2599 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397507 NA NA 0.253372 0.15025 ID=COSM1350177;OCCURENCE=6(large_intestine) 0.174 NA 5.8929946 1063 1 247611459 247611459 G A intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA Name=SIX5,HEY1,Pol2-4H8,TAF7_(SQ-8),YY1_(C-20),YY1,Pol2,E2F6_(H-50),TAF1 Name=116 NA rs11577509 0.14 0.14 0.138 0.135783 0.1074 0.0506 0.1167 0.2481 0.1145 0.1 0.05 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019637 NA NA NA NA NA NA NA 5.8926 1063 1 247611460 247611460 G C intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA Name=SIX5,HEY1,Pol2-4H8,TAF7_(SQ-8),YY1_(C-20),YY1,Pol2,E2F6_(H-50),TAF1 Name=116 NA rs11577510 0.14 0.14 0.134 0.136182 0.1074 0.0506 0.1167 0.2489 0.1155 0.1 0.05 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065154 NA NA NA NA NA NA NA 5.8926 1063 17 43226478 43226478 C T UTR5 HEXIM1 NM_006460:c.-80C>T NA NA UTR5 ENSG00000186834 ENST00000332499:c.-80C>T NA NA NA NA 17q21.31 NA Name=AP-2gamma Name=8 NA rs7216041 NA NA NA 0.519369 0.4414 0.5149 0.4928 0.6649 0.4264 NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.323459 NA NA NA NA NA 0.246 NA 5.8919334 1063 12 124387586 124387586 A G exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon56:c.A9387G:p.A3129A exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon56:c.A9387G:p.A3129A NA NA 12q24.31 Score=713;Name=V$NRSF_01 NA NA NA rs61587964 0.35 0.35 0.343 0.358027 0.2515 0.2788 0.2968 0.6135 0.2474 0.27 0.28 0.3 0.59 0.3009 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663971 NA NA 0.222538 0.522846 NA 0.333 NA 5.8917286 1063 10 126556186 126556186 A G intergenic FAM175B,ZRANB1 dist=30947;dist=74506 NA NA ncRNA_exonic ENSG00000214807 NA NA NA Score=563;Name=lod=260 NA 10q26.13 NA Name=Rad21 NA NA rs10901830 0.08 0.08 0.081 0.0700879 0.1083 NA 0.072 0.1248 0.0276 0.11 NA 0.07 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949111 NA NA NA NA NA 0.08 NA 5.8917 1063 8 23059324 23059324 C G exonic TNFRSF10A NA nonsynonymous SNV TNFRSF10A:NM_003844:exon4:c.G626C:p.R209T exonic ENSG00000104689 NA nonsynonymous SNV ENSG00000104689:ENST00000221132:exon4:c.G626C:p.R209T,ENSG00000104689:ENST00000524158:exon4:c.G20C:p.R7T NA NA 8p21.3 NA NA NA NA rs20575 0.57 0.57 0.555 0.579473 0.4553 0.9732 0.6138 0.2769 0.6861 0.46 0.98 0.58 0.26 0.5279 0.98 1 T 0.0 B 0.0 B 0.549 N 1.000 P -2.47 N 1.75 T -0.966 T 0.000 T 0.044 -1.462 0.019 0.222 -0.547 -0.139 4.476 -1.462074 NA 1 0.458605 0.31616 NA 0.399 NA 5.8915284 1063 1 237617757 237617757 C T exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon15:c.C1359T:p.S453S exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon14:c.C1311T:p.S437S,ENSG00000198626:ENST00000366574:exon15:c.C1359T:p.S453S,ENSG00000198626:ENST00000360064:exon16:c.C1353T:p.S451S Score=511;Name=lod=159 NA 1q43 NA NA NA NA rs3765097 0.55 0.55 0.542 0.535743 0.5994 0.7391 0.5447 0.2769 0.6043 0.61 0.73 0.55 0.26 0.5755 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663732 NA NA 0.60051 0.32141 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036681.1;CLNDSDB=.;CLNDSDBID=. 5.8912566 1063 16 70395387 70395387 C T exonic DDX19A NA synonymous SNV DDX19A:NM_018332:exon5:c.C360T:p.N120N exonic ENSG00000168872 NA nonsynonymous SNV ENSG00000168872:ENST00000569319:exon4:c.C224T:p.T75M Score=599;Name=lod=362 NA 16q22.1 NA NA NA NA rs1134074 0.27 0.27 0.254 0.225639 0.3996 0.3036 0.3184 0.0234 0.1738 0.4 0.28 0.33 0.02 0.3286 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575089 NA NA 0.380581 0.083712 NA 0.188 NA 5.891219 1063 17 40835922 40835922 A C exonic CNTNAP1 NA synonymous SNV CNTNAP1:NM_003632:exon2:c.A151C:p.R51R exonic ENSG00000108797 NA synonymous SNV ENSG00000108797:ENST00000264638:exon2:c.A151C:p.R51R,ENSG00000108797:ENST00000591662:exon2:c.A151C:p.R51R Score=435;Name=lod=78 NA 17q21.2 NA NA Name=44 NA rs2271029 0.56 0.56 0.543 0.578275 0.5775 0.4663 0.5245 0.6014 0.7014 0.58 0.46 0.5 0.67 0.5981 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425479 NA NA 0.6 0.595552 ID=COSM1383417;OCCURENCE=2(large_intestine) 0.71 NA 5.8910666 1063 4 100047812 100047812 G A exonic ADH4 NA synonymous SNV ADH4:NM_000670:exon8:c.C1051T:p.L351L exonic ENSG00000198099 NA synonymous SNV ENSG00000198099:ENST00000265512:exon8:c.C1051T:p.L351L,ENSG00000198099:ENST00000423445:exon8:c.C1108T:p.L370L,ENSG00000198099:ENST00000505590:exon9:c.C1108T:p.L370L,ENSG00000198099:ENST00000508393:exon9:c.C1108T:p.L370L NA NA 4q23 Score=796;Name=V$BACH1_01 NA NA NA rs1126672 0.14 0.14 0.133 0.117212 0.2773 NA 0.1729 0.0696 0.0982 0.27 NA 0.19 0.07 0.2099 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243445 NA NA 0.288488 0.10985 ID=COSM1131320;OCCURENCE=1(prostate) 0.232 NA 5.8909786 1063 5 137902339 137902339 T C exonic HSPA9 NA synonymous SNV HSPA9:NM_004134:exon9:c.A948G:p.K316K exonic ENSG00000113013 NA synonymous SNV ENSG00000113013:ENST00000297185:exon9:c.A948G:p.K316K Score=521;Name=lod=174 NA 5q31.2 NA NA NA NA rs1042665 0.4 0.4 0.397 0.419928 0.2485 0.7629 0.2464 0.3464 0.4652 0.25 0.78 0.23 0.33 0.3072 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26122 1.26122 NA 0.220465 0.317975 NA 0.268 NA 5.8905016 1063 12 124387574 124387574 G A exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon56:c.G9375A:p.E3125E exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon56:c.G9375A:p.E3125E Score=313;Name=lod=25 NA 12q24.31 NA NA NA NA rs58411567 0.33 0.33 0.309 0.335663 0.2495 0.2788 0.2925 0.5318 0.2485 0.27 0.28 0.3 0.5 0.3055 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315923 NA NA 0.221275 0.459819 NA 0.333 NA 5.8903916 1063 4 9909923 9909923 G A exonic SLC2A9 NA nonsynonymous SNV SLC2A9:NM_020041:exon8:c.C1049T:p.P350L,SLC2A9:NM_001001290:exon9:c.C962T:p.P321L exonic ENSG00000109667 NA nonsynonymous SNV ENSG00000109667:ENST00000264784:exon8:c.C1049T:p.P350L,ENSG00000109667:ENST00000309065:exon9:c.C962T:p.P321L,ENSG00000109667:ENST00000506583:exon10:c.C962T:p.P321L NA NA 4p16.1 NA NA NA NA rs2280205 0.32 0.32 0.31 0.271166 0.4841 0.1994 0.4078 0.028 0.3579 0.5 0.24 0.44 0.04 0.4377 0.52 . . 0.064 B 0.015 B 0.000 N 1.000 P 1.33 L -0.89 T -0.994 T 0.000 T 0.088 0.084 4.455 0.251 0.061 -0.066 4.825 0.084316 NA 0.32 0.521163 0.102587 NA 0.254 NA 5.8903704 1063 19 15752137 15752137 C T intronic CYP4F3 NA NA NA UTR5 ENSG00000186529 ENST00000587360:c.-89C>T,ENST00000585846:c.-89C>T NA NA NA NA 19p13.12 NA Name=HEY1,HDAC2_(SC-6296),Sin3Ak-20,HNF4A_(H-171),FOXA1_(C-20),p300,RXRA,FOXA1_(SC-101058),FOXA2_(SC-6554),GR,HNF4A,Pol2,TAF1 Name=11 NA rs1290618 0.2 0.2 0.187 0.20008 0.2763 0.1558 0.1729 0.1014 0.32 0.28 0.18 0.21 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348844 NA NA NA NA NA 0.203 NA 5.8903667 1063 16 28837515 28837515 T C intronic ATXN2L NA NA NA intronic ENSG00000168488 NA NA NA NA Name=Inflammatory bowel disease (early onset) 16p11.2 NA Name=c-Myc,CTCF Name=42 NA rs8049439 0.36 0.36 0.315 0.35623 0.3439 0.2857 0.5043 0.4433 0.2188 0.35 0.28 0.42 0.42 0.3797 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345583 NA NA 0.386047 0.447201 ID=COSN165165;OCCURENCE=1(breast) 0.246 NA 5.890353 1063 15 86312681 86312681 G A exonic KLHL25 NA synonymous SNV KLHL25:NM_022480:exon2:c.C361T:p.L121L exonic ENSG00000183655 NA synonymous SNV ENSG00000183655:ENST00000337975:exon2:c.C361T:p.L121L,ENSG00000183655:ENST00000536947:exon2:c.C361T:p.L121L Score=437;Name=lod=80 NA 15q25.3 NA NA NA NA rs11073537 0.15 0.15 0.146 0.125 0.2883 0.0188 0.2291 0.0106 0.1472 0.3 0.03 0.25 0.01 0.2179 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106594 NA NA 0.270412 0.045867 NA 0.196 NA 5.8900546 1063 1 39919346 39919346 T G intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA Name=CEBPB Name=76 NA rs688320 0.1 0.1 0.11 0.102636 0.0258 0.1766 0.0432 0.1808 0.0419 0.02 0.17 0.04 0.2 0.0522 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23682 NA NA 0.032209 0.163867 NA 0.087 NA 5.889791 1063 20 18485443 18485443 G A intergenic RBBP9,SEC23B dist=7556;dist=2745 NA NA ncRNA_exonic ENSG00000214612 NA NA NA Score=741;Name=lod=1363 NA 20p11.23 NA Name=CTCF_(SC-5916) NA NA rs73108959 0.06 0.06 0.049 0.0527157 0.1113 0.0357 0.072 0.0045 0.0613 0.12 0.03 0.08 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746413 NA NA NA NA NA 0.116 NA 5.8887 1063 1 880390 880390 C A intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA Name=ZNF263,Egr-1,USF1_(SC-8983),GATA-2,Pol2 Name=14 NA rs3748593 0.08 0.08 0.076 0.0842652 0.0378 0.0675 0.0735 0.1921 0.0112 0.03 0.07 0.07 0.18 0.046 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221049 NA NA 0.027558 0.176577 NA 0.043 NA 5.888642 1063 15 86311695 86311695 G A exonic KLHL25 NA synonymous SNV KLHL25:NM_022480:exon2:c.C1347T:p.F449F exonic ENSG00000183655 NA synonymous SNV ENSG00000183655:ENST00000337975:exon2:c.C1347T:p.F449F,ENSG00000183655:ENST00000536947:exon2:c.C1347T:p.F449F Score=343;Name=lod=33 NA 15q25.3 NA NA NA NA rs1978391 0.15 0.15 0.131 0.125 0.2883 0.0188 0.2291 0.0106 0.1472 0.3 0.03 0.25 0.01 0.2185 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969208 NA NA 0.271807 0.045413 NA 0.196 NA 5.8880596 1063 1 94643531 94643531 T C exonic ARHGAP29 NA synonymous SNV ARHGAP29:NM_004815:exon21:c.A2673G:p.Q891Q exonic ENSG00000137962 NA synonymous SNV ENSG00000137962:ENST00000260526:exon21:c.A2673G:p.Q891Q,ENSG00000137962:ENST00000552844:exon21:c.A2673G:p.Q891Q NA NA 1p22.1 NA NA Name=4 NA rs1048854 0.15 0.15 0.132 0.136182 0.2962 0.002 0.2147 0.0318 0.1953 0.3 0.0017 0.23 0.04 0.2181 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134233 NA NA 0.264535 0.068997 NA 0.167 NA 5.8878316 1063 10 33469181 33469181 A G exonic NRP1 NA synonymous SNV NRP1:NM_001244972:exon17:c.T2577C:p.S859S,NRP1:NM_001244973:exon17:c.T2574C:p.S858S,NRP1:NM_003873:exon17:c.T2595C:p.S865S exonic ENSG00000099250 NA synonymous SNV ENSG00000099250:ENST00000413802:exon2:c.T141C:p.S47S,ENSG00000099250:ENST00000374875:exon16:c.T2031C:p.S677S,ENSG00000099250:ENST00000395995:exon16:c.T2544C:p.S848S,ENSG00000099250:ENST00000374867:exon17:c.T2595C:p.S865S,ENSG00000099250:ENST00000265371:exon18:c.T2595C:p.S865S Score=603;Name=lod=375 NA 10p11.22 NA NA NA NA rs1048804 0.42 0.42 0.404 0.424321 0.2455 0.622 0.2061 0.5666 0.3671 0.23 0.69 0.25 0.53 0.2981 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663208 NA NA 0.235349 0.501589 ID=COSM146924;OCCURENCE=1(stomach) 0.384 NA 5.8877176 1063 7 39472846 39472846 G A exonic POU6F2 NA synonymous SNV POU6F2:NM_001166018:exon8:c.G1197A:p.Q399Q,POU6F2:NM_007252:exon8:c.G1197A:p.Q399Q exonic ENSG00000106536 NA synonymous SNV ENSG00000106536:ENST00000416452:exon2:c.G294A:p.Q98Q,ENSG00000106536:ENST00000559001:exon5:c.G1032A:p.Q344Q,ENSG00000106536:ENST00000524147:exon6:c.G1032A:p.Q344Q,ENSG00000106536:ENST00000518318:exon7:c.G1197A:p.Q399Q,ENSG00000106536:ENST00000520104:exon7:c.G1173A:p.Q391Q,ENSG00000106536:ENST00000403058:exon8:c.G1197A:p.Q399Q Score=615;Name=lod=420 NA 7p14.1 NA NA NA NA rs2302122 0.33 0.33 0.329 0.321286 0.2386 0.5188 0.2637 0.3253 0.2382 0.24 0.51 0.24 0.33 0.287 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046737 NA NA 0.253372 0.3468 NA 0.246 NA 5.8876946 1063 1 145109493 145109493 C T intronic NBPF9,SEC22B NA NA NA ncRNA_intronic ENSG00000223380 NA NA NA NA NA 1q21.1 NA Name=BDP1 Name=8 NA rs2442651 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4457 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154767 NA NA NA NA NA 0.116 NA 5.8876333 1063 5 73144845 73144845 A G exonic ARHGEF28 NA synonymous SNV ARHGEF28:NM_001244364:exon5:c.A741G:p.S247S,ARHGEF28:NM_001080479:exon13:c.A1680G:p.S560S,ARHGEF28:NM_001177693:exon13:c.A1680G:p.S560S exonic ENSG00000214944 NA synonymous SNV ENSG00000214944:ENST00000296799:exon5:c.A741G:p.S247S,ENSG00000214944:ENST00000426542:exon12:c.A1680G:p.S560S,ENSG00000214944:ENST00000437974:exon12:c.A1680G:p.S560S,ENSG00000214944:ENST00000287898:exon13:c.A1680G:p.S560S,ENSG00000214944:ENST00000296794:exon13:c.A1680G:p.S560S,ENSG00000214944:ENST00000513042:exon13:c.A1680G:p.S560S,ENSG00000214944:ENST00000545377:exon13:c.A1680G:p.S560S Score=532;Name=lod=193 NA 5q13.2 Score=802;Name=V$PBX1_02 NA NA NA rs2973568 0.63 0.63 0.64 0.676318 0.5577 0.5109 0.5937 0.9531 0.6534 0.56 0.47 0.61 0.93 0.6514 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.299993 1.299993 NA 0.570225 0.895011 NA 0.638 NA 5.8873416 1063 7 100550203 100550203 T A intergenic ACHE,MUC12 dist=56662;dist=62701 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.T784A:p.S262T NA NA 7q22.1 NA NA NA NA rs75141335 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4985 0.45 1 T . . . . . . . . 0.55 N . . -0.938 T 0.000 T 0.07 0.168 4.906 0.671 0.182 -1.002 2.683 0.168313 NA 1 0.447765 0.430936 ID=COSM304007;OCCURENCE=1(central_nervous_system) NA NA 5.8870684 1063 6 33173377 33173377 G A intronic HSD17B8 NA NA NA intronic ENSG00000204228 NA NA NA NA NA 6p21.32 NA Name=eGFP-JunB,JunD,Pol2,Pol2-4H8,c-Fos,eGFP-JunD,c-Jun,BAF170,eGFP-FOS,BATF Name=94 NA rs116067382 0.03 0.03 0.029 0.0265575 0.0368 0.0129 0.0274 0.0129 0.0481 0.03 0.01 0.04 0.02 0.0354 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739747 NA NA 0.04099 0.006954 NA 0.072 NA 5.88681 1063 1 46810670 46810670 T C exonic NSUN4 NA synonymous SNV NSUN4:NM_001256127:exon2:c.T144C:p.D48D,NSUN4:NM_001256128:exon2:c.T144C:p.D48D,NSUN4:NM_199044:exon2:c.T291C:p.D97D exonic ENSG00000117481 NA synonymous SNV ENSG00000117481:ENST00000307089:exon2:c.T291C:p.D97D,ENSG00000117481:ENST00000474844:exon2:c.T291C:p.D97D,ENSG00000117481:ENST00000537428:exon2:c.T144C:p.D48D,ENSG00000117481:ENST00000536062:exon3:c.T144C:p.D48D Score=407;Name=lod=60 NA 1p33 NA NA NA NA rs17361763 0.16 0.16 0.153 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.14 0.2178 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555637 NA NA 0.289884 0.152746 NA 0.217 NA 5.8865826 1063 17 37213307 37213307 C T ncRNA_exonic LOC100131347 NA NA NA ncRNA_exonic ENSG00000263818 NA NA NA NA NA 17q12 NA Name=Egr-1,ZNF263,Pol2-4H8,Nrf1,TBP,HEY1,SRF,Pol2,Mxi1_(bHLH),PU.1,YY1_(C-20),TAF1,E2F6_(H-50),POU2F2,HMGN3,Oct-2 Name=147 NA rs4795337 0.72 0.72 0.67 0.729034 0.7803 0.6339 0.8833 0.6732 0.7403 0.77 0.59 0.86 0.7 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139478 NA NA NA NA NA 0.659 NA 5.8863666 1063 1 220197625 220197625 G T exonic EPRS NA nonsynonymous SNV EPRS:NM_004446:exon8:c.C924A:p.D308E exonic ENSG00000136628 NA nonsynonymous SNV ENSG00000136628:ENST00000366923:exon8:c.C924A:p.D308E Score=428;Name=lod=73 NA 1q41 NA NA NA NA rs2230301 0.88 0.88 0.894 0.898962 0.7932 0.9395 0.8732 0.9902 0.8609 0.79 0.94 0.85 0.98 0.845 0.98 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.655 N 2.05 T -0.988 T 0.000 T 0.048 -1.403 0.023 -1.6 -0.807 0.354 7.245 -1.403151 NA 1 0.808953 0.956877 NA 0.891 NA 5.8861804 1063 19 2042745 2042745 C T intronic MKNK2 NA NA NA intronic ENSG00000099875 NA NA NA NA NA 19p13.3 NA Name=AP-2gamma Name=10 NA rs72981432 0.02 0.02 0.014 0.0115815 0.0388 NA 0.013 0.0008 0.0092 0.04 NA 0.01 0.002 0.0432 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371467 NA NA 0.031833 0.007748 NA 0.022 NA 5.886167 1063 5 14797624 14797624 T C intronic ANKH NA NA NA ncRNA_exonic ENSG00000249485 NA NA NA Score=797;Name=lod=2322 NA 5p15.2 NA NA Name=16 NA rs31988 0.56 0.56 0.529 0.567492 0.4473 0.7391 0.5778 0.4728 0.635 0.46 0.76 0.56 0.5 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453103 1.453103 NA NA NA NA 0.428 NA 5.8860333 1063 5 14797660 14797660 A G intronic ANKH NA NA NA ncRNA_exonic ENSG00000249485 NA NA NA Score=797;Name=lod=2322 NA 5p15.2 NA NA Name=16 NA rs31989 0.57 0.57 0.569 0.579673 0.4473 0.7391 0.5807 0.5174 0.635 0.46 0.76 0.56 0.53 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.658283 1.658283 NA NA NA NA 0.428 NA 5.8860333 1063 12 49086963 49086963 G A exonic CCNT1 NA synonymous SNV CCNT1:NM_001240:exon9:c.C2034T:p.P678P exonic ENSG00000129315 NA synonymous SNV ENSG00000129315:ENST00000261900:exon9:c.C2034T:p.P678P Score=696;Name=lod=899 NA 12q13.11 Score=812;Name=V$OCT1_04 NA NA NA rs3741632 0.6 0.6 0.584 0.59405 0.5746 0.7768 0.5692 0.4463 0.6431 0.59 0.75 0.57 0.45 0.6152 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04218 NA NA 0.59093 0.455742 NA 0.543 NA 5.8859366 1063 8 2037811 2037811 G C intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA Name=Max,GATA-2,c-Myc Name=8 NA rs2294060 0.08 0.08 0.089 0.0838658 0.0427 0.0437 0.0605 0.2133 0.0092 0.04 0.04 0.07 0.18 0.043 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.501246 NA NA 0.028605 0.201089 NA 0.08 NA 5.885695 1063 13 19751544 19751544 C T exonic TUBA3C NA synonymous SNV TUBA3C:NM_006001:exon4:c.G579A:p.T193T exonic ENSG00000198033 NA synonymous SNV ENSG00000198033:ENST00000400113:exon4:c.G579A:p.T193T Score=819;Name=lod=2831 NA 13q12.11 NA NA NA NA rs2297224 0.29 0.29 0.222 0.288738 0.2674 0.3671 0.2824 0.2171 0.3313 0.26 0.4 0.3 0.2 0.2722 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216918 NA NA 0.24174 0.203132 NA 0.283 NA 5.8853266 1063 4 77880193 77880193 G A intronic SEPT11 NA NA NA ncRNA_exonic ENSG00000234036 NA NA NA Score=363;Name=lod=40 NA 4q21.1 NA NA Name=6 NA rs6833311 0.37 0.37 0.354 0.347244 0.4483 0.2768 0.3689 0.2844 0.3855 0.46 0.29 0.41 0.29 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.704191 1.704191 NA NA NA NA 0.348 NA 5.8850333 1064 19 7166376 7166376 C T exonic INSR NA synonymous SNV INSR:NM_000208:exon8:c.G1650A:p.A550A,INSR:NM_001079817:exon8:c.G1650A:p.A550A exonic ENSG00000171105 NA synonymous SNV ENSG00000171105:ENST00000600492:exon2:c.G51A:p.A17A,ENSG00000171105:ENST00000302850:exon8:c.G1650A:p.A550A,ENSG00000171105:ENST00000341500:exon8:c.G1650A:p.A550A NA NA 19p13.2 Score=812;Name=V$PAX4_01 NA NA NA rs2059806 0.23 0.23 0.237 0.244808 0.2853 0.2798 0.2363 0.1793 0.2618 0.29 0.22 0.23 0.17 0.2549 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.260014 NA NA 0.241628 0.194054 ID=COSM148469;OCCURENCE=1(stomach) 0.159 NA 5.8848386 1064 1 110466338 110466338 C A exonic CSF1 NA synonymous SNV CSF1:NM_000757:exon6:c.C1095A:p.T365T,CSF1:NM_172212:exon6:c.C1095A:p.T365T exonic ENSG00000184371 NA synonymous SNV ENSG00000184371:ENST00000329608:exon6:c.C1095A:p.T365T,ENSG00000184371:ENST00000369802:exon6:c.C1095A:p.T365T NA NA 1p13.3 NA Name=Rad21,CTCF,PU.1,SMC3_(ab9263) Name=25 NA rs333970 0.45 0.45 0.435 0.430112 0.6213 0.4018 0.5749 0.1067 0.5971 0.63 0.41 0.57 0.13 0.5573 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317911 NA NA 0.604651 0.19133 NA 0.5 NA 5.8834156 1064 3 156009614 156009614 A G UTR5 KCNAB1 NM_172159:c.-83A>G NA NA UTR5 ENSG00000169282 ENST00000302490:c.-83A>G NA NA NA NA 3q25.31 Score=888;Name=V$NFKAPPAB65_01 NA Name=45 NA rs2290165 0.45 0.45 0.431 0.479233 0.4503 0.5218 0.317 0.5348 0.5051 0.44 0.52 0.33 0.48 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143513 NA NA NA NA NA 0.391 NA 5.8830334 1064 11 121448090 121448090 T G exonic SORL1 NA synonymous SNV SORL1:NM_003105:exon25:c.T3561G:p.S1187S exonic ENSG00000137642 NA synonymous SNV ENSG00000137642:ENST00000532694:exon2:c.T99G:p.S33S,ENSG00000137642:ENST00000534286:exon2:c.T291G:p.S97S,ENSG00000137642:ENST00000525532:exon5:c.T393G:p.S131S,ENSG00000137642:ENST00000260197:exon25:c.T3561G:p.S1187S Score=630;Name=lod=483 NA 11q24.1 NA NA NA NA rs2070045 0.32 0.32 0.251 0.340855 0.2406 0.5685 0.438 0.0787 0.4949 0.24 0.58 0.36 0.11 0.3127 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915565 NA NA 0.231565 0.10168 ID=COSM147339;OCCURENCE=1(stomach) 0.304 NA 5.8818016 1064 5 79952426 79952426 G A intronic MSH3 NA NA NA intronic ENSG00000113318 NA NA NA NA NA 5q14.1 NA Name=CTCF,Rad21 Name=25 NA rs1650694 NA NA NA 0.105831 0.1193 0.0169 0.0793 0.2118 0.0593 NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829058 NA NA NA NA NA 0.225 NA 5.8807 1064 2 72707874 72707874 A G exonic EXOC6B NA synonymous SNV EXOC6B:NM_015189:exon17:c.T1671C:p.V557V exonic ENSG00000144036 NA synonymous SNV ENSG00000144036:ENST00000272427:exon17:c.T1671C:p.V557V,ENSG00000144036:ENST00000410104:exon17:c.T1671C:p.V557V Score=677;Name=lod=753 NA 2p13.2 NA NA NA NA rs653220 0.33 0.33 0.376 0.347644 0.2346 0.0069 0.2118 0.9546 0.091 0.23 0.01 0.23 0.94 0.322 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430188 NA NA 0.22968 0.798875 NA 0.449 NA 5.8803866 1064 1 21894816 21894816 T C intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA Name=c-Fos Name=53 NA rs3738097 0.28 0.28 0.259 0.267173 0.1203 0.4534 0.268 0.2655 0.228 0.13 0.49 0.26 0.28 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167323 NA NA NA NA NA 0.181 NA 5.8797 1064 7 143088823 143088823 T C exonic EPHA1 NA synonymous SNV EPHA1:NM_005232:exon17:c.A2742G:p.P914P exonic ENSG00000146904 NA synonymous SNV ENSG00000146904:ENST00000275815:exon17:c.A2742G:p.P914P NA NA 7q34 Score=916;Name=V$LMO2COM_02 Name=Pol2,Pol2-4H8 Name=77 NA rs1804527 0.95 0.95 0.942 0.958866 0.9245 0.9931 0.9798 0.9198 0.9969 0.91 1 0.98 0.93 0.9365 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71766 NA NA 0.926047 0.916704 NA 0.913 NA 5.8796196 1064 19 58718269 58718269 G A exonic ZNF274 NA unknown UNKNOWN exonic ENSG00000171606 NA nonsynonymous SNV ENSG00000171606:ENST00000424679:exon2:c.G124A:p.V42I,ENSG00000171606:ENST00000345813:exon4:c.G343A:p.V115I,ENSG00000171606:ENST00000326804:exon5:c.G439A:p.V147I NA NA 19q13.43 NA NA NA NA rs7256349 0.15 0.15 0.136 0.122404 0.2843 NA 0.183 0.0333 0.1595 0.29 NA 0.23 0.05 0.2251 0.29 0.36 T 0.187 B 0.055 B 0.231 N 1.000 P 0 N 3.38 T -0.921 T 0.000 T 0.027 -0.732 0.87 -1.71 -0.265 -0.011 3.778 -0.732191 NA 0.46 0.278301 0.062146 NA 0.116 NA 5.8789657 1064 9 15527348 15527348 A T intergenic PSIP1,CCDC171 dist=16345;dist=25749 NA NA ncRNA_exonic ENSG00000213362 NA NA NA Score=762;Name=lod=1673 NA 9p22.3 NA Name=USF-1 NA NA rs28515581 0.21 0.21 0.182 0.246805 0.1213 0.124 0.1124 0.5499 0.1881 0.1 0.12 0.1 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210124 NA NA NA NA ID=COSN168475;OCCURENCE=1(large_intestine) 0.21 NA 5.8787 1064 3 18427924 18427924 G T exonic SATB1 NA synonymous SNV SATB1:NM_001131010:exon8:c.C1386A:p.P462P,SATB1:NM_001195470:exon8:c.C1386A:p.P462P,SATB1:NM_002971:exon8:c.C1386A:p.P462P exonic ENSG00000182568 NA synonymous SNV ENSG00000182568:ENST00000338745:exon8:c.C1386A:p.P462P,ENSG00000182568:ENST00000417717:exon8:c.C1386A:p.P462P,ENSG00000182568:ENST00000454909:exon8:c.C1386A:p.P462P Score=472;Name=lod=110 NA 3p24.3 Score=708;Name=V$HOX13_01 NA NA NA rs2229261 0.68 0.68 0.672 0.689097 0.5716 0.9226 0.7291 0.5809 0.6871 0.57 0.93 0.68 0.56 0.6373 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594576 NA NA 0.579651 0.583976 NA 0.638 NA 5.8781156 1064 12 52713218 52713218 C T intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=17 NA rs10876276 0.2 0.2 0.186 0.177316 0.1223 0.4355 0.1859 0.0257 0.1667 0.13 0.42 0.22 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.931968 1.931968 NA NA NA NA 0.051 NA 5.8777 1064 14 39685539 39685539 A G intergenic PNN,MIA2 dist=33117;dist=17586 NA NA ncRNA_exonic ENSG00000270503 NA NA NA Score=764;Name=lod=1697 NA 14q21.1 NA NA Name=16 NA rs7140164 0.23 0.23 NA 0.202276 0.1233 0.4435 0.1369 0.1725 0.1217 0.12 0.47 0.16 0.17 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.017896 NA NA NA NA NA 0.101 NA 5.8767 1064 12 7053149 7053149 A C upstream C12orf57 NA NA NA ncRNA_exonic ENSG00000272173 NA NA NA NA NA 12p13.31 NA Name=Pbx3,Sin3Ak-20,Pol2-4H8,HDAC2_(SC-6296),Egr-1,STAT3,YY1,ELK4,FOXA1_(C-20),Pol2(b),JunD,FOSL2,SIRT6,EBF,IRF1,GATA2_(CG2-96),USF-1,Nrf1,TCF12,THAP1_(SC-98174),PAX5-C20,PAX5-N19,SRF,ZBTB7A_(SC-34508),HEY1,BCL3,NFKB,STAT2,TAF7_(SQ-8),BCLAF1_(M33-P5B11),BCL11A,YY1_(C-20),IRF4_(M-17),TR4,MEF2A,NRSF,SP1,Pol2,MEF2C_(SC-13268),Pol2(phosphoS2),TCF4,POU2F2,ZBTB33,GABP,HMGN3,ETS1,TAF1,CHD2_(N-1250),BATF,EBF1_(C-8),p300,Oct-2,STAT1,FOXA2_(SC-6554),ELF1_(SC-631),FOXA1_(SC-101058) Name=148 NA rs1044189 0.34 0.34 0.313 0.362819 0.2903 0.253 0.3516 0.5378 0.3221 0.29 0.23 0.38 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057825 NA NA NA NA NA 0.304 NA 5.8763666 1064 5 147499670 147499670 C T exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon25:c.C2412T:p.G804G,SPINK5:NM_001127699:exon25:c.C2412T:p.G804G,SPINK5:NM_006846:exon25:c.C2412T:p.G804G exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon25:c.C2412T:p.G804G,ENSG00000133710:ENST00000359874:exon25:c.C2412T:p.G804G,ENSG00000133710:ENST00000398454:exon25:c.C2412T:p.G804G,ENSG00000133710:ENST00000508733:exon25:c.C2355T:p.G785G Score=433;Name=lod=77 NA 5q32 Score=874;Name=V$NKX3A_01 NA NA NA rs33920397 0.49 0.49 0.472 0.488419 0.5924 0.4821 0.634 0.3139 0.5204 0.56 0.46 0.59 0.36 0.5825 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141384 NA NA 0.615553 0.373326 ID=COSM149975;OCCURENCE=1(stomach) 0.471 NA 5.8762136 1064 19 48543923 48543923 C A exonic CABP5 NA synonymous SNV CABP5:NM_019855:exon3:c.G177T:p.T59T exonic ENSG00000105507 NA synonymous SNV ENSG00000105507:ENST00000293255:exon3:c.G177T:p.T59T NA NA 19q13.33 Score=889;Name=V$SOX9_B1 NA NA NA rs12982629 0.16 0.16 0.158 0.141773 0.2724 0.0099 0.2248 0.0825 0.1646 0.27 0.02 0.26 0.11 0.2344 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745215 NA NA 0.283721 0.124376 NA 0.225 NA 5.8761456 1064 19 39914748 39914748 G A exonic PLEKHG2 NA nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K exonic ENSG00000090924 NA nonsynonymous SNV ENSG00000090924:ENST00000425673:exon17:c.G2888A:p.R963K,ENSG00000090924:ENST00000409794:exon19:c.G2975A:p.R992K,ENSG00000090924:ENST00000458508:exon19:c.G2798A:p.R933K NA NA 19q13.2 NA NA NA NA rs31726 0.53 0.53 0.553 0.575879 0.4911 0.5962 0.4798 0.6702 0.5828 0.48 0.55 0.48 0.65 0.5083 0.65 . . 0.004 B 0.009 B 0.136 N 1.000 P 1.04 L -0.43 T -0.924 T 0.000 T 0.235 1.83 12.08 0.404 0.200 0.589 5.814 1.830209 1.830209 0 0.458372 0.64798 NA 0.478 NA 5.8755614 1065 11 76234185 76234185 C T intronic C11orf30 NA NA NA intronic ENSG00000158636 NA NA NA Score=493;Name=lod=134 NA 11q13.5 Score=836;Name=V$TST1_01 NA NA NA rs11600501 0.03 0.03 0.022 0.024361 0.0447 NA 0.0259 0.0371 0.0102 0.04 NA 0.03 0.06 0.0353 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.280027 3.280027 NA 0.0452 0.037273 NA 0.014 NA 5.8748 1065 20 1616892 1616892 A G exonic SIRPG NA synonymous SNV SIRPG:NM_001039508:exon3:c.T690C:p.H230H,SIRPG:NM_018556:exon3:c.T690C:p.H230H exonic ENSG00000089012 NA synonymous SNV ENSG00000089012:ENST00000216927:exon3:c.T690C:p.H230H,ENSG00000089012:ENST00000303415:exon3:c.T690C:p.H230H,ENSG00000089012:ENST00000381580:exon3:c.T591C:p.H197H,ENSG00000089012:ENST00000381583:exon3:c.T690C:p.H230H Score=300;Name=lod=22 NA 20p13 NA NA NA NA rs2277760 0.31 0.31 0.263 0.347843 0.2495 0.6379 0.2522 0.1135 0.5348 0.25 0.6 0.25 0.12 0.3057 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146696 NA NA 0.237093 0.122106 NA 0.297 NA 5.8743736 1065 9 36013199 36013199 G A intergenic OR2S2,RECK dist=55048;dist=23711 NA NA ncRNA_exonic ENSG00000228307 NA NA NA Score=243;Name=lod=13 NA 9p13.3 Score=747;Name=V$TAXCREB_02 NA NA NA rs7865316 0.19 0.19 0.188 0.201877 0.1262 0.2728 0.1124 0.2557 0.1973 0.12 0.27 0.12 0.26 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462037 NA NA NA NA NA 0.254 NA 5.8738 1065 16 85116312 85116312 C T intronic KIAA0513 NA NA NA intronic ENSG00000135709 NA NA NA NA NA 16q24.1 NA Name=USF-1,USF2 Name=6 NA rs2291964 0.09 0.09 0.095 0.0960463 0.1262 0.0575 0.085 0.0764 0.1391 0.13 0.06 0.1 0.08 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00379 NA NA NA NA NA 0.13 NA 5.8738 1065 16 27709825 27709825 C T intronic KIAA0556 NA NA NA ncRNA_intronic ENSG00000261329 NA NA NA NA NA 16p12.1 NA Name=Rad21,CTCF,CTCFL_(SC-98982),GABP,SMC3_(ab9263),CTCF_(SC-5916) Name=14 NA rs12920169 0.15 0.15 0.157 0.142971 0.1561 0.001 0.1916 0.2905 0.0419 0.16 NA 0.18 0.28 0.1548 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.293969 1.293969 NA 0.148721 0.268093 NA 0.123 NA 5.8737123 1065 1 103352451 103352451 A G exonic COL11A1 NA synonymous SNV COL11A1:NM_080630:exon61:c.T4422C:p.I1474I,COL11A1:NM_001190709:exon62:c.T4653C:p.I1551I,COL11A1:NM_001854:exon63:c.T4770C:p.I1590I,COL11A1:NM_080629:exon63:c.T4806C:p.I1602I exonic ENSG00000060718 NA synonymous SNV ENSG00000060718:ENST00000512756:exon61:c.T4422C:p.I1474I,ENSG00000060718:ENST00000353414:exon62:c.T4653C:p.I1551I,ENSG00000060718:ENST00000358392:exon63:c.T4806C:p.I1602I,ENSG00000060718:ENST00000370096:exon63:c.T4770C:p.I1590I Score=697;Name=lod=908 NA 1p21.1 NA NA Name=5 NA rs2229783 0.52 0.52 0.446 0.484625 0.6064 0.6647 0.7478 0.0499 0.5746 0.61 0.67 0.72 0.06 0.5801 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754133 NA NA 0.606628 0.139582 NA 0.362 NA 5.8735386 1065 6 30309508 30309508 T C exonic TRIM39,TRIM39-RPP21 NA synonymous SNV TRIM39-RPP21:NM_001199119:exon6:c.T939C:p.P313P,TRIM39:NM_172016:exon8:c.T939C:p.P313P,TRIM39:NM_021253:exon9:c.T1029C:p.P343P exonic ENSG00000204599,ENSG00000248167 NA synonymous SNV ENSG00000248167:ENST00000513556:exon6:c.T675C:p.P225P,ENSG00000204599:ENST00000376659:exon8:c.T939C:p.P313P,ENSG00000204599:ENST00000396547:exon8:c.T1029C:p.P343P,ENSG00000204599:ENST00000396551:exon8:c.T939C:p.P313P,ENSG00000204599:ENST00000376656:exon9:c.T1029C:p.P343P,ENSG00000204599:ENST00000396548:exon9:c.T939C:p.P313P,ENSG00000204599:ENST00000540416:exon9:c.T939C:p.P313P NA NA 6p22.1 Score=878;Name=V$COUP_01 NA NA NA rs2074474 0.34 0.34 0.291 0.376797 0.2435 0.5119 0.451 0.3109 0.411 0.22 0.48 0.41 0.3 0.3047 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050766 NA NA 0.245015 0.281932 NA 0.377 NA 5.8734516 1065 1 205129319 205129319 G A exonic DSTYK NA synonymous SNV DSTYK:NM_015375:exon8:c.C2028T:p.F676F,DSTYK:NM_199462:exon8:c.C2028T:p.F676F exonic ENSG00000133059 NA synonymous SNV ENSG00000133059:ENST00000367161:exon8:c.C2028T:p.F676F,ENSG00000133059:ENST00000367162:exon8:c.C2028T:p.F676F Score=512;Name=lod=160 NA 1q32.1 NA NA NA NA rs1062715 0.33 0.33 0.317 0.371406 0.2565 0.4008 0.3184 0.4175 0.4346 0.25 0.42 0.33 0.37 0.301 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152366 NA NA 0.236163 0.382206 NA 0.225 NA 5.8730036 1065 12 124172555 124172555 A T intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA Name=PU.1,NFKB Name=7 NA rs7298831 0.32 0.32 0.316 0.331669 0.3748 0.0605 0.2997 0.5484 0.2965 0.38 0.06 0.32 0.56 0.3567 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367479 NA NA 0.395698 0.546527 NA 0.304 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114232.2;CLNDSDB=.;CLNDSDBID=. 5.872802 1065 18 22669614 22669614 A G intronic ZNF521 NA NA NA intronic ENSG00000198795 NA NA NA NA NA 18q11.2 NA Name=GATA3_(SC-268) Name=6 NA rs12454983 0.11 0.11 0.11 0.111621 0.1272 0.001 0.1196 0.2322 0.0409 0.11 NA 0.14 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.009835 NA NA NA NA NA 0.138 NA 5.8728 1065 18 52896003 52896003 A G intronic TCF4 NA NA NA intronic ENSG00000196628 NA NA NA NA NA 18q21.2 NA Name=CTCF Name=5 NA rs8087570 0.08 0.08 0.088 0.0908546 0.1272 0.005 0.0605 0.1142 0.1319 0.12 0.0017 0.09 0.11 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463247 NA NA NA NA NA 0.058 NA 5.8728 1065 7 4900341 4900341 G A exonic PAPOLB NA synonymous SNV PAPOLB:NM_020144:exon1:c.C1101T:p.S367S exonic ENSG00000218823 NA synonymous SNV ENSG00000218823:ENST00000404991:exon1:c.C1098T:p.S366S Score=497;Name=lod=139 NA 7p22.1 NA NA NA NA rs17135247 0.22 0.22 0.207 0.235423 0.2515 0.3105 0.2622 0.0325 0.3967 0.25 0.3 0.24 0.05 0.2683 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646616 NA NA 0.274767 0.063864 NA 0.239 NA 5.8720996 1065 22 44681612 44681612 A G exonic KIAA1644 NA synonymous SNV KIAA1644:NM_001099294:exon4:c.T295C:p.L99L exonic ENSG00000138944 NA synonymous SNV ENSG00000138944:ENST00000381176:exon4:c.T295C:p.L99L Score=563;Name=lod=260 NA 22q13.31 NA Name=CTCF NA NA rs135388 0.45 0.45 0.429 0.465056 0.6163 0.3284 0.3674 0.4017 0.6053 0.63 0.29 0.41 0.37 0.5508 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800719 NA NA 0.627561 0.443765 NA 0.486 NA 5.8720056 1065 6 33138677 33138677 G A exonic COL11A2 NA synonymous SNV COL11A2:NM_080679:exon43:c.C3063T:p.P1021P,COL11A2:NM_080681:exon44:c.C3126T:p.P1042P,COL11A2:NM_080680:exon46:c.C3384T:p.P1128P exonic ENSG00000204248 NA synonymous SNV ENSG00000204248:ENST00000361917:exon43:c.C3063T:p.P1021P,ENSG00000204248:ENST00000374708:exon44:c.C3126T:p.P1042P,ENSG00000204248:ENST00000374712:exon44:c.C3141T:p.P1047P,ENSG00000204248:ENST00000374713:exon44:c.C3243T:p.P1081P,ENSG00000204248:ENST00000357486:exon45:c.C3321T:p.P1107P,ENSG00000204248:ENST00000374714:exon45:c.C3306T:p.P1102P,ENSG00000204248:ENST00000395197:exon45:c.C3204T:p.P1068P,ENSG00000204248:ENST00000341947:exon46:c.C3384T:p.P1128P NA NA 6p21.32 Score=763;Name=V$PAX5_02 NA NA NA rs1799911 0.22 0.22 0.217 0.245807 0.2525 0.2431 0.2579 0.1225 0.3998 0.24 0.26 0.21 0.14 0.2637 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230399 NA NA 0.278516 0.147915 NA 0.203 NA 5.8719506 1065 9 131607591 131607591 C T intronic CCBL1 NA NA NA intronic ENSG00000171097 NA NA NA NA NA 9q34.11 NA Name=CTCF_(SC-5916),HA-E2F1,GATA-2,c-Myc,AP-2gamma,CTCFL_(SC-98982),CTCF,Rad21 Name=39 NA rs41275928 0.07 0.07 0.065 0.0706869 0.0408 0.0913 0.0403 0.09 0.0757 0.04 0.11 0.05 0.09 0.0503 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895395 NA NA 0.037037 0.07283 NA 0.08 NA 5.871863 1065 6 32548469 32548469 A G intronic HLA-DRB1 NA NA NA intronic ENSG00000196126 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 Name=3 NA rs3830133 0.08 0.08 0.037 0.0646965 0.1282 0.0208 0.1052 0.0575 0.0256 0.11 0.03 0.11 0.06 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914997 NA NA NA NA NA 0.058 NA 5.8718 1065 16 66596936 66596936 G T intronic CKLF,CKLF-CMTM1 NA NA NA intronic ENSG00000217555,ENSG00000254788 NA NA NA NA NA 16q21 NA Name=GATA-1 Name=3 NA rs59529247 NA NA NA 0.0992412 0.0497 0.1101 0.1412 0.0998 0.1084 NA NA NA NA 0.0789 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.144381 NA NA NA NA NA NA NA 5.8714 1065 15 65108479 65108479 T C UTR3 PIF1 NM_025049:c.*18A>G NA NA UTR3 ENSG00000140451 ENST00000268043:c.*18A>G,ENST00000559239:c.*18A>G NA NA NA NA 15q22.31 Score=899;Name=V$EVI1_02 Name=EBF NA NA rs8036568 0.31 0.31 0.284 0.273962 0.1233 0.7669 0.2695 0.1067 0.1503 0.13 0.78 0.24 0.1 0.2034 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842186 NA NA 0.13538 0.116712 NA 0.145 NA 5.8712534 1065 5 145508340 145508340 A G exonic LARS NA synonymous SNV LARS:NM_020117:exon27:c.T2775C:p.T925T exonic ENSG00000133706 NA synonymous SNV ENSG00000133706:ENST00000274562:exon26:c.T2694C:p.T898T,ENSG00000133706:ENST00000510191:exon26:c.T2613C:p.T871T,ENSG00000133706:ENST00000545646:exon26:c.T2637C:p.T879T,ENSG00000133706:ENST00000394434:exon27:c.T2775C:p.T925T Score=401;Name=lod=57 NA 5q32 NA NA NA NA rs2895647 0.2 0.2 0.161 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2641 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01863 NA NA 0.278837 0.060145 NA 0.261 NA 5.8712296 1065 5 67151565 67151565 G A intergenic CD180,PIK3R1 dist=658948;dist=360019 NA NA ncRNA_intronic ENSG00000249894,ENSG00000250421 NA NA NA NA NA 5q13.1 NA Name=MEF2A,BCL11A Name=6 NA rs13182765 0.06 0.06 0.047 0.0609026 0.1292 0.001 0.1182 0.0068 0.0849 0.12 NA 0.08 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681821 NA NA NA NA NA 0.109 NA 5.8708 1065 9 36021852 36021852 A G intergenic OR2S2,RECK dist=63701;dist=15058 NA NA ncRNA_exonic ENSG00000236110 NA NA NA Score=534;Name=lod=198 NA 9p13.3 Score=805;Name=V$PBX1_02 NA NA NA rs10511925 0.18 0.18 0.167 0.17472 0.1292 0.2659 0.0865 0.1899 0.1697 0.12 0.26 0.11 0.21 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524797 NA NA NA NA NA 0.246 NA 5.8708 1065 12 113403684 113403684 C T exonic OAS3 NA synonymous SNV OAS3:NM_006187:exon12:c.C2539T:p.L847L exonic ENSG00000111331 NA synonymous SNV ENSG00000111331:ENST00000228928:exon12:c.C2539T:p.L847L Score=346;Name=lod=34 NA 12q24.13 NA NA NA NA rs2240188 0.28 0.28 0.289 0.284145 0.2604 0.1558 0.3775 0.4221 0.1881 0.27 0.18 0.32 0.38 0.2696 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74354 NA NA 0.266547 0.364885 NA 0.297 NA 5.8701196 1065 21 47532500 47532500 C T intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA Score=518;Name=lod=170 NA 21q22.3 NA NA NA NA rs78822624 0.02 0.02 0.02 0.0161741 0.0417 0.002 0.0159 0.0091 0.0143 0.04 NA 0.02 0.002 0.04 0.048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488889 1.488889 NA 0.048391 0.008193 NA 0.014 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079898.3;CLNDSDB=.;CLNDSDBID=. 5.869909 1065 2 47256297 47256297 C T intronic TTC7A NA NA NA intronic ENSG00000068724 NA NA NA NA NA 2p21 NA Name=HA-E2F1,c-Myc Name=6 NA rs2304289 0.29 0.29 0.274 0.282149 0.1302 0.629 0.2003 0.2428 0.1922 0.14 0.6 0.2 0.22 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58531 NA NA NA NA NA 0.225 NA 5.8698 1065 17 9791159 9791159 G A intronic GLP2R NA NA NA intronic ENSG00000065325 NA NA NA NA NA 17p13.1 NA Name=JunD,Mxi1_(bHLH) Name=6 NA rs2240737 0.21 0.21 0.185 0.225839 0.1302 0.2847 0.2767 0.2156 0.2413 0.12 0.27 0.25 0.26 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049919 NA NA NA NA ID=COSN165329;OCCURENCE=1(breast) 0.254 NA 5.8698 1065 10 115380311 115380311 C T intronic NRAP NA NA NA intronic ENSG00000197893 NA NA NA NA NA 10q25.3 Score=728;Name=V$BRACH_01 NA Name=2 NA rs11599399 0.03 0.03 0.026 0.0233626 0.0626 NA 0.0432 0.0076 0.0143 0.06 NA 0.06 0.01 NA 0.068 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.768104 1.768104 NA 0.067805 0.018265 NA 0.007 NA 5.869595 1065 18 23865851 23865851 C T exonic TAF4B NA synonymous SNV TAF4B:NM_005640:exon7:c.C978T:p.S326S exonic ENSG00000141384 NA synonymous SNV ENSG00000141384:ENST00000269142:exon7:c.C978T:p.S326S,ENSG00000141384:ENST00000400466:exon7:c.C978T:p.S326S,ENSG00000141384:ENST00000418698:exon7:c.C978T:p.S326S,ENSG00000141384:ENST00000578121:exon7:c.C978T:p.S326S Score=407;Name=lod=60 NA 18q11.2 NA NA NA NA rs12456749 0.15 0.15 0.137 0.119609 0.2913 0.0546 0.1354 0.0439 0.1012 0.3 0.04 0.13 0.06 0.2225 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74293 NA NA 0.283696 0.076762 NA 0.188 NA 5.8691706 1065 19 49259529 49259529 A G exonic FGF21 NA synonymous SNV FGF21:NM_019113:exon1:c.A36G:p.G12G exonic ENSG00000105550 NA synonymous SNV ENSG00000105550:ENST00000222157:exon1:c.A36G:p.G12G,ENSG00000105550:ENST00000593756:exon2:c.A36G:p.G12G Score=289;Name=lod=20 Name=Dietary macronutrient intake 19q13.33 NA NA NA NA rs838133 0.75 0.75 0.716 0.771765 0.5746 0.994 0.7478 0.739 0.8067 0.58 0.99 0.71 0.74 0.6629 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.892735 NA NA 0.560116 0.701316 NA 0.739 NA 5.8690506 1065 6 32410083 32410083 C A intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA Name=Pol2,Pol2-4H8 Name=5 NA rs16822616 0.1 0.1 0.066 0.0882588 0.1312 0.0407 0.098 0.0938 0.0787 0.13 0.04 0.11 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.744129 NA NA NA NA NA 0.109 NA 5.8688 1065 4 100263965 100263965 C T exonic ADH1C NA unknown UNKNOWN exonic ENSG00000248144 NA unknown UNKNOWN NA NA 4q23 Score=717;Name=V$BRACH_01 NA NA NA rs1693482 0.24 0.24 0.201 0.214257 0.4046 0.0764 0.2709 0.0998 0.2751 0.41 0.07 0.3 0.12 0.3425 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.178005 2.178005 NA 0.384186 0.149796 NA 0.232 CLINSIG=other;CLNDBN=Alcohol_dependence;CLNREVSTAT=single;CLNACC=RCV000019810.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN028882:103780 5.868714 1065 2 130949491 130949491 G A exonic TUBA3E NA synonymous SNV TUBA3E:NM_207312:exon5:c.C1266T:p.R422R exonic ENSG00000152086 NA synonymous SNV ENSG00000152086:ENST00000312988:exon5:c.C1266T:p.R422R Score=466;Name=lod=104 NA 2q21.1 NA NA NA NA rs60154251 0.4 0.4 0.315 NA NA NA NA NA NA 0.37 0.47 0.46 0.34 0.4083 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.209378 NA NA 0.39 0.358375 NA 0.486 NA 5.8683666 1065 5 141014494 141014494 T C exonic HDAC3 NA synonymous SNV HDAC3:NM_003883:exon3:c.A165G:p.Q55Q exonic ENSG00000171720 NA synonymous SNV ENSG00000171720:ENST00000305264:exon3:c.A165G:p.Q55Q,ENSG00000171720:ENST00000523353:exon3:c.A165G:p.Q55Q Score=553;Name=lod=235 NA 5q31.3 NA Name=ZNF263 NA NA rs2530223 0.6 0.6 0.615 0.639776 0.5726 0.3462 0.6945 0.885 0.6411 0.59 0.35 0.69 0.85 0.6253 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29048 1.29048 NA 0.600465 0.844757 NA 0.659 NA 5.8683016 1065 21 37541998 37541998 C T intronic DOPEY2 NA NA NA ncRNA_exonic ENSG00000228149 NA NA NA Score=831;Name=lod=3173 NA 21q22.12 NA NA Name=2 NA rs7281243 0.45 0.45 0.447 0.402756 0.4652 0.4573 0.4928 0.3502 0.2894 0.46 0.46 0.49 0.38 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065813 NA NA NA NA NA 0.471 NA 5.8681333 1065 12 6691452 6691452 G A intronic CHD4 NA NA NA ncRNA_intronic ENSG00000247853 NA NA NA NA NA 12p13.31 NA Name=CTCF,Rad21 Name=12 NA rs7316626 0.18 0.18 0.179 0.207668 0.1352 0.0188 0.0908 0.4894 0.1789 0.13 0.01 0.11 0.48 0.1662 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603012 NA NA 0.163837 0.430095 NA 0.181 NA 5.8680963 1065 3 170214585 170214585 C T intronic SLC7A14 NA NA NA intronic ENSG00000013293,ENSG00000013297 NA NA NA Score=501;Name=lod=145 NA 3q26.2 NA Name=CTCF NA NA rs35753997 0.18 0.18 0.2 0.202875 0.1322 NA 0.1066 0.534 0.1053 0.12 NA 0.1 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326046 NA NA NA NA NA 0.181 NA 5.8678 1065 18 12308608 12308608 C T intronic TUBB6 NA NA NA intronic ENSG00000176014 NA NA NA NA NA 18p11.21 NA Name=Pol2,PU.1,GATA-1,c-Fos,NANOG_(SC-33759),Ini1,AP-2alpha,AP-2gamma Name=141 NA rs77669770 0.14 0.14 0.168 0.129193 0.1322 0.1488 0.1787 0.084 0.1319 0.14 0.18 0.16 0.09 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898245 NA NA NA NA NA 0.145 NA 5.8678 1065 6 127797374 127797374 G A exonic SOGA3 NA synonymous SNV SOGA3:NM_001012279:exon6:c.C1797T:p.N599N exonic ENSG00000214338,ENSG00000255330 NA synonymous SNV ENSG00000214338:ENST00000368268:exon5:c.C1797T:p.N599N,ENSG00000214338:ENST00000465909:exon6:c.C1797T:p.N599N,ENSG00000255330:ENST00000481848:exon6:c.C1797T:p.N599N,ENSG00000214338:ENST00000525778:exon6:c.C1797T:p.N599N,ENSG00000214338:ENST00000556132:exon6:c.C1797T:p.N599N Score=628;Name=lod=477 NA 6q22.33 NA NA NA NA rs3734450 0.36 0.36 0.303 0.35004 0.2416 0.7371 0.4424 0.1309 0.2935 0.24 0.73 0.36 0.11 0.3174 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525116 NA NA 0.240357 0.130964 ID=COSM1440295;OCCURENCE=1(large_intestine) 0.254 NA 5.8673096 1065 11 12229655 12229655 T G exonic MICAL2 NA synonymous SNV MICAL2:NM_014632:exon5:c.T558G:p.V186V exonic ENSG00000133816 NA synonymous SNV ENSG00000133816:ENST00000379612:exon3:c.T558G:p.V186V,ENSG00000133816:ENST00000342902:exon4:c.T558G:p.V186V,ENSG00000133816:ENST00000527546:exon4:c.T558G:p.V186V,ENSG00000133816:ENST00000256194:exon5:c.T558G:p.V186V,ENSG00000133816:ENST00000537344:exon5:c.T558G:p.V186V NA NA 11p15.3 Score=883;Name=V$ZID_01 NA NA NA rs2279390 0.37 0.37 0.372 0.401757 0.2584 0.501 0.245 0.4856 0.4448 0.26 0.49 0.23 0.48 0.3052 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122585 NA NA 0.236143 0.460927 NA 0.391 NA 5.8669236 1065 12 126003890 126003890 G A intronic TMEM132B NA NA NA intronic ENSG00000139364 NA NA NA NA NA 12q24.32 NA Name=MafK_(ab50322),MafK_(SC-477) Name=3 NA rs964997 0.41 0.41 0.418 0.420927 0.1332 0.749 0.2104 0.5794 0.3139 0.14 0.74 0.22 0.57 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811427 NA NA NA NA NA 0.304 NA 5.8668 1065 12 124104049 124104049 A G exonic DDX55 NA synonymous SNV DDX55:NM_020936:exon13:c.A1404G:p.G468G exonic ENSG00000111364 NA synonymous SNV ENSG00000111364:ENST00000421670:exon2:c.A225G:p.G75G,ENSG00000111364:ENST00000538744:exon12:c.A1311G:p.G437G,ENSG00000111364:ENST00000238146:exon13:c.A1404G:p.G468G Score=435;Name=lod=78 NA 12q24.31 NA NA NA NA rs15587 0.24 0.24 0.241 0.252796 0.2654 0.0159 0.2205 0.4486 0.2423 0.27 0.02 0.21 0.47 0.2583 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.400012 1.400012 NA 0.276279 0.416478 NA 0.246 NA 5.8666876 1065 15 99799750 99799750 T C ncRNA_exonic HSP90B2P NA NA NA ncRNA_exonic ENSG00000259706 NA NA NA Score=638;Name=lod=520 NA 15q26.3 NA NA Name=3 NA rs1976589 0.8 0.8 0.816 0.817692 0.8002 0.7907 0.7752 0.9206 0.7546 0.78 0.78 0.77 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019538 NA 1 NA NA NA 0.761 NA 5.8664666 1065 2 71012604 71012604 G A exonic FIGLA NA synonymous SNV FIGLA:NM_001004311:exon3:c.C552T:p.H184H exonic ENSG00000183733 NA synonymous SNV ENSG00000183733:ENST00000332372:exon3:c.C552T:p.H184H NA NA 2p13.3 NA Name=CTCF,CTCF_(C-20),Max,c-Myc,Rad21,Sin3Ak-20,eGFP-JunD,CTCF_(SC-5916),PU.1,SMC3_(ab9263),GATA-1,eGFP-JunB,E2F6_(H-50) Name=87 NA rs7566541 0.78 0.78 0.802 0.797724 0.5905 0.9067 0.7032 0.9743 0.727 0.6 0.94 0.67 0.96 0.6479 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641809 NA NA 0.562752 0.900429 NA 0.732 NA 5.8655146 1065 11 5141980 5141980 A G intergenic OR52E2,OR52A5 dist=61123;dist=10942 NA NA ncRNA_exonic ENSG00000205494 NA NA NA NA NA 11p15.4 NA NA NA NA rs4426129 0.72 0.72 0.737 0.735423 0.7147 0.5675 0.7176 0.8896 0.7342 0.71 0.58 0.72 0.91 0.7164 0.91 0 D 0.174 B 0.133 B . . 0.996 N . . . . -1.009 T 0.000 T . -0.61 1.284 -3.87 -0.481 -3.739 7.255 -0.609634 NA 0.79 0.703816 0.868923 NA 0.775 NA 5.865084 1066 10 28409054 28409054 C T intronic MPP7 NA NA NA intronic ENSG00000150054 NA NA NA NA NA 10p12.1 NA Name=TCF4,STAT1,STAT3,JunD,AP-2alpha,AP-2gamma Name=50 NA rs10763644 0.41 0.41 0.403 0.457268 0.1352 0.8839 0.4251 0.379 0.4775 0.13 0.88 0.36 0.31 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459803 NA NA NA NA NA 0.377 NA 5.8648 1066 4 100260789 100260789 T C exonic ADH1C NA unknown UNKNOWN exonic ENSG00000248144 NA unknown UNKNOWN Score=502;Name=lod=146 NA 4q23 NA NA NA NA rs698 0.24 0.24 0.188 0.214257 0.4046 0.0764 0.2709 0.0991 0.2761 0.42 0.07 0.31 0.12 0.3444 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118336 NA NA 0.38629 0.151703 NA 0.225 CLINSIG=other;CLNDBN=Alcohol_dependence;CLNREVSTAT=single;CLNACC=RCV000019811.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN028882:103780 5.86471 1066 5 7868030 7868030 T C exonic FASTKD3 NA nonsynonymous SNV FASTKD3:NM_024091:exon2:c.A167G:p.K56R exonic ENSG00000124279 NA nonsynonymous SNV ENSG00000124279:ENST00000507036:exon1:c.A167G:p.K56R,ENSG00000124279:ENST00000264669:exon2:c.A167G:p.K56R,ENSG00000124279:ENST00000504695:exon2:c.A167G:p.K56R,ENSG00000124279:ENST00000507572:exon2:c.A116G:p.K39R NA NA 5p15.31 Score=873;Name=V$RORA1_01 NA NA NA rs2966952 0.81 0.81 0.817 0.821486 0.8241 0.6716 0.8458 0.9349 0.8027 0.83 0.66 0.85 0.94 0.8201 0.94 1 T 0.0 B 0.0 B 0.377 N 1.000 P -2.075 N 2.2 T -0.976 T 0.000 T 0.113 -2.142 0.005 0.974 0.061 -0.633 5.499 -2.142342 NA 1 0.824535 0.892419 NA 0.841 NA 5.8645984 1066 11 554166 554166 C G exonic LRRC56 NA nonsynonymous SNV LRRC56:NM_198075:exon14:c.C1519G:p.R507G exonic ENSG00000161328 NA nonsynonymous SNV ENSG00000161328:ENST00000270115:exon14:c.C1519G:p.R507G NA NA 11p15.5 Score=807;Name=V$PAX5_02 NA NA NA rs10902170 0.8 0.8 0.796 0.79393 0.829 0.874 0.8718 0.7103 0.7331 0.81 0.85 0.84 0.7 0.8169 0.85 1 T 0.0 B 0.0 B 0.831 N 1.000 P -0.805 N 3.21 T -1.010 T 0.000 T 0.006 -2.978 0.001 -1.47 -0.556 0.149 5.062 -2.978478 NA 1 0.823057 0.71848 NA 0.659 NA 5.8643764 1066 5 135391374 135391374 C T exonic TGFBI NA synonymous SNV TGFBI:NM_000358:exon11:c.C1416T:p.L472L exonic ENSG00000120708 NA synonymous SNV ENSG00000120708:ENST00000305126:exon11:c.C1416T:p.L472L,ENSG00000120708:ENST00000442011:exon11:c.C1416T:p.L472L Score=531;Name=lod=191 NA 5q31.1 NA NA NA NA rs1133170 0.26 0.26 0.269 0.280152 0.2565 0.247 0.2133 0.3011 0.3579 0.26 0.26 0.19 0.3 0.2787 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.472303 2.472303 NA 0.267241 0.307492 NA 0.225 NA 5.8642256 1066 15 51520206 51520206 T C intronic CYP19A1 NA NA NA ncRNA_intronic ENSG00000259240 NA NA NA NA NA 15q21.2 NA Name=BATF Name=38 NA rs1065778 0.37 0.37 0.363 0.325879 0.4692 0.4385 0.3184 0.1596 0.2924 0.48 0.45 0.33 0.13 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391711 NA NA NA NA ID=COSN164938;OCCURENCE=1(breast) 0.283 NA 5.8641333 1066 15 78189478 78189478 C A intergenic LOC253044,LOC645752 dist=247897;dist=17081 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=505;Name=lod=151 NA 15q24.3 Score=950;Name=V$AP4_Q5 NA NA NA rs28403366 0.1 0.1 0.093 0.086262 0.1362 0.0367 0.0706 0.1044 0.0726 0.14 0.04 0.08 0.12 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118767 NA NA NA NA NA 0.058 NA 5.8638 1066 16 84796603 84796603 A G exonic USP10 NA synonymous SNV USP10:NM_005153:exon9:c.A1563G:p.Q521Q,USP10:NM_001272075:exon10:c.A1575G:p.Q525Q exonic ENSG00000103194 NA synonymous SNV ENSG00000103194:ENST00000570053:exon3:c.A99G:p.Q33Q,ENSG00000103194:ENST00000569038:exon8:c.A438G:p.Q146Q,ENSG00000103194:ENST00000219473:exon9:c.A1563G:p.Q521Q,ENSG00000103194:ENST00000570191:exon10:c.A1575G:p.Q525Q Score=469;Name=lod=107 NA 16q24.1 NA NA NA NA rs12932018 0.26 0.26 0.218 0.26258 0.2525 0.4087 0.428 0.053 0.2883 0.26 0.37 0.36 0.05 0.2835 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023022 NA NA 0.267386 0.089352 NA 0.152 NA 5.8632806 1066 7 149031386 149031386 C T intergenic LOC155060,ZNF777 dist=36983;dist=97068 NA NA ncRNA_exonic ENSG00000215311 NA NA NA Score=518;Name=lod=170 NA 7q36.1 NA Name=CTCF NA NA rs145799080 0.09 0.09 0.077 0.0740815 0.1372 NA 0.1167 0.0983 0.0225 0.14 NA 0.14 0.09 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392659 1.392659 NA NA NA NA 0.123 NA 5.8628 1066 11 118451901 118451901 T C intronic ARCN1 NA NA NA intronic ENSG00000095139 NA NA NA NA NA 11q23.3 NA Name=c-Jun Name=18 NA rs11216911 0.24 0.24 0.227 0.279553 0.1372 0.5823 0.0821 0.2027 0.3579 0.14 0.53 0.09 0.18 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299278 NA NA NA NA NA 0.196 NA 5.8628 1066 8 141551407 141551407 G A exonic AGO2 NA synonymous SNV AGO2:NM_001164623:exon15:c.C1890T:p.R630R,AGO2:NM_012154:exon15:c.C1890T:p.R630R exonic ENSG00000123908 NA synonymous SNV ENSG00000123908:ENST00000220592:exon15:c.C1890T:p.R630R,ENSG00000123908:ENST00000519980:exon15:c.C1890T:p.R630R NA NA 8q24.3 Score=806;Name=V$PAX4_01 NA NA NA rs2293939 0.25 0.25 0.223 0.227436 0.2684 0.3581 0.281 0.0567 0.2434 0.26 0.36 0.27 0.08 0.2677 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123631 NA NA 0.267791 0.094417 NA 0.13 NA 5.8627756 1066 2 208811097 208811097 C T exonic PLEKHM3 NA synonymous SNV PLEKHM3:NM_001080475:exon4:c.G1686A:p.K562K exonic ENSG00000178385 NA synonymous SNV ENSG00000178385:ENST00000389247:exon4:c.G1686A:p.K562K,ENSG00000178385:ENST00000427836:exon4:c.G1686A:p.K562K,ENSG00000178385:ENST00000457206:exon4:c.G1686A:p.K562K Score=417;Name=lod=66 NA 2q33.3 NA NA NA NA rs10932215 0.56 0.56 0.549 0.543131 0.6113 0.4038 0.4986 0.7073 0.4264 0.6 0.39 0.53 0.71 0.5626 0.71 . . . . . . . . 0.000 P . . . . -0.965 T 0.000 T . 0.686 7.665 1.64 -0.096 0.061 11.425 0.685683 NA NA 0.630282 0.687368 NA 0.478 NA 5.8624846 1066 2 3392075 3392075 T C exonic TRAPPC12 NA synonymous SNV TRAPPC12:NM_016030:exon2:c.T681C:p.F227F exonic ENSG00000171853 NA synonymous SNV ENSG00000171853:ENST00000324266:exon2:c.T681C:p.F227F,ENSG00000171853:ENST00000382110:exon2:c.T681C:p.F227F Score=479;Name=lod=118 Name=Obesity-related traits 2p25.3 NA NA NA NA rs10865541 0.64 0.64 0.653 0.653754 0.6183 0.6806 0.5 0.7254 0.6748 0.62 0.68 0.54 0.71 0.603 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158554 NA NA 0.582907 0.696096 ID=COSM442850;OCCURENCE=1(breast) 0.37 NA 5.8624596 1066 10 115375528 115375528 C A exonic NRAP NA synonymous SNV NRAP:NM_006175:exon26:c.G2916T:p.P972P,NRAP:NM_001261463:exon27:c.G3021T:p.P1007P,NRAP:NM_198060:exon27:c.G3021T:p.P1007P exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000360478:exon26:c.G2916T:p.P972P,ENSG00000197893:ENST00000369360:exon26:c.G2940T:p.P980P,ENSG00000197893:ENST00000359988:exon27:c.G3021T:p.P1007P,ENSG00000197893:ENST00000369358:exon27:c.G3045T:p.P1015P Score=278;Name=lod=18 NA 10q25.3 NA NA NA NA rs11196397 0.27 0.27 0.253 0.227636 0.2783 0.3958 0.2507 0.0802 0.1851 0.26 0.42 0.28 0.09 0.2565 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51719 NA NA 0.269535 0.102133 ID=COSM147045;OCCURENCE=1(stomach) 0.203 NA 5.8623316 1066 14 77951124 77951124 C T exonic ISM2 NA nonsynonymous SNV ISM2:NM_182509:exon2:c.G280A:p.A94T,ISM2:NM_199296:exon2:c.G280A:p.A94T exonic ENSG00000100593 NA nonsynonymous SNV ENSG00000100593:ENST00000342219:exon2:c.G280A:p.A94T,ENSG00000100593:ENST00000412904:exon2:c.G280A:p.A94T,ENSG00000100593:ENST00000493585:exon2:c.G280A:p.A94T,ENSG00000100593:ENST00000554801:exon2:c.G280A:p.A94T,ENSG00000100593:ENST00000393684:exon3:c.G16A:p.A6T NA NA 14q24.3 NA NA NA NA rs3742728 0.61 0.61 0.587 0.589657 0.6481 0.9494 0.647 0.1467 0.7168 0.64 0.95 0.62 0.16 0.6567 0.95 0.81 T 0.772 P 0.236 B . . 1.000 P 1.445 L 2.2 T -0.861 T 0.000 T 0.067 1.084 9.424 0.674 0.157 -0.600 4.820 1.083844 NA 0.14 0.66686 0.237857 NA 0.522 NA 5.8616734 1066 9 90503451 90503451 G A exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.G4049A:p.R1350H exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.G4049A:p.R1350H NA NA 9q22.1 NA NA NA NA rs11142017 0.45 0.45 0.435 0.460064 0.5179 0.3373 0.4049 0.5151 0.4918 0.51 0.34 0.43 0.5 0.4626 0.51 0.14 T 0.0 B 0.0 B 0.078 N 1.000 P -0.895 N 3.83 T -0.936 T 0.000 T 0.018 0.627 7.37 1.25 -0.023 0.117 2.917 0.62661 NA 0.1 0.491395 0.497503 NA 0.449 NA 5.8614384 1066 5 55406952 55406952 T C exonic ANKRD55 NA synonymous SNV ANKRD55:NM_024669:exon10:c.A1623G:p.P541P exonic ENSG00000164512 NA synonymous SNV ENSG00000164512:ENST00000434982:exon2:c.A759G:p.P253P,ENSG00000164512:ENST00000504958:exon8:c.A1494G:p.P498P,ENSG00000164512:ENST00000341048:exon10:c.A1623G:p.P541P NA NA 5q11.2 NA Name=TAL1_(SC-12984),GATA-2,eGFP-GATA2,CCNT2 NA NA rs321775 0.23 0.23 0.208 0.217652 0.2813 0.3065 0.1311 0.0862 0.2996 0.28 0.31 0.18 0.09 0.2546 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.227127 NA NA 0.269419 0.115524 ID=COSM149840;OCCURENCE=1(stomach) 0.123 NA 5.8613476 1066 8 69009268 69009268 C T exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon22:c.C2385T:p.F795F,PREX2:NM_025170:exon22:c.C2385T:p.F795F exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon22:c.C2385T:p.F795F Score=543;Name=lod=214 NA 8q13.2 NA NA NA NA rs3812458 0.26 0.26 0.26 0.266174 0.2783 0.1885 0.2435 0.2731 0.3405 0.3 0.22 0.23 0.27 0.2637 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109126 NA NA 0.263953 0.272583 NA 0.225 NA 5.8607136 1066 17 15215660 15215660 T C exonic TEKT3 NA synonymous SNV TEKT3:NM_031898:exon7:c.A1017G:p.Q339Q exonic ENSG00000125409 NA synonymous SNV ENSG00000125409:ENST00000338696:exon6:c.A1017G:p.Q339Q,ENSG00000125409:ENST00000395930:exon7:c.A1017G:p.Q339Q,ENSG00000125409:ENST00000539245:exon8:c.A519G:p.Q173Q Score=526;Name=lod=183 NA 17p12 NA NA NA NA rs2286516 0.24 0.24 0.24 0.234425 0.2793 0.252 0.2896 0.1445 0.2526 0.28 0.24 0.3 0.15 0.2684 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069034 NA NA 0.258605 0.168861 NA 0.254 NA 5.8603616 1066 8 142228809 142228809 T C exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon4:c.A777G:p.A259A exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon4:c.A777G:p.A259A,ENSG00000022567:ENST00000433583:exon4:c.A756G:p.A252A,ENSG00000022567:ENST00000517878:exon4:c.A930G:p.A310A,ENSG00000022567:ENST00000519067:exon4:c.A777G:p.A259A Score=417;Name=lod=66 NA 8q24.3 Score=745;Name=V$TCF11MAFG_01 NA NA NA rs753779 0.7 0.7 0.682 0.711462 0.6024 0.8194 0.5879 0.8238 0.6483 0.58 0.82 0.65 0.8 0.6317 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46769 NA NA 0.572674 0.807762 NA 0.601 NA 5.8598926 1066 19 41932612 41932612 C T exonic B3GNT8 NA synonymous SNV B3GNT8:NM_198540:exon3:c.G72A:p.E24E exonic ENSG00000177191 NA synonymous SNV ENSG00000177191:ENST00000321702:exon3:c.G72A:p.E24E Score=542;Name=lod=213 NA 19q13.2 Score=839;Name=V$CDPCR1_01 NA NA NA rs284663 0.61 0.61 0.614 0.617412 0.5934 0.4266 0.487 0.8631 0.5992 0.58 0.46 0.57 0.86 0.6022 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218608 NA NA 0.611189 0.817068 NA 0.681 NA 5.8598776 1066 12 120800696 120800696 T A intronic MSI1 NA NA NA intronic ENSG00000135097 NA NA NA NA NA 12q24.31 NA Name=ZNF263 Name=6 NA rs1557769 0.15 0.15 0.142 0.157548 0.1402 0.0774 0.1268 0.2413 0.1667 0.15 0.06 0.13 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.055344 2.055344 NA NA NA NA 0.225 NA 5.8598 1066 12 47182279 47182279 C T intronic SLC38A4 NA NA NA intronic ENSG00000139209 NA NA NA NA NA 12q13.11 NA Name=STAT3,c-Fos,FOSL2,FOXA1_(SC-101058) Name=65 NA rs2302855 0.11 0.11 0.086 0.0932508 0.0298 0.244 0.2147 0.0129 0.0256 0.03 0.25 0.21 0.02 0.0764 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401984 NA NA 0.034186 0.027488 NA 0.087 NA 5.859614 1066 16 84270381 84270381 G A exonic KCNG4 NA synonymous SNV KCNG4:NM_172347:exon2:c.C711T:p.S237S exonic ENSG00000168418 NA synonymous SNV ENSG00000168418:ENST00000308251:exon2:c.C711T:p.S237S,ENSG00000168418:ENST00000568181:exon2:c.C711T:p.S237S Score=518;Name=lod=170 NA 16q24.1 Score=744;Name=V$SEF1_C NA NA NA rs244811 0.57 0.57 0.583 0.596845 0.6183 0.4643 0.5648 0.6747 0.6288 0.62 0.41 0.59 0.66 0.6058 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184842 NA NA 0.583043 0.6525 NA 0.688 NA 5.8595236 1066 19 41889748 41889748 T C exonic TMEM91 NA synonymous SNV TMEM91:NM_001098821:exon4:c.T489C:p.A163A exonic ENSG00000142046 NA synonymous SNV ENSG00000142046:ENST00000392002:exon4:c.T489C:p.A163A Score=489;Name=lod=129 NA 19q13.2 NA Name=Pol2 NA NA rs12602 0.61 0.61 0.59 0.618411 0.5924 0.4306 0.4784 0.8691 0.5992 0.58 0.46 0.56 0.87 0.6011 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.56138 1.56138 NA 0.613702 0.825627 NA 0.688 NA 5.8594646 1066 9 33442952 33442952 G A exonic AQP3 NA synonymous SNV AQP3:NM_004925:exon4:c.C390T:p.F130F exonic ENSG00000165272 NA synonymous SNV ENSG00000165272:ENST00000297991:exon4:c.C390T:p.F130F NA NA 9p13.3 Score=817;Name=V$GFI1_01 Name=TBP NA NA rs2228332 0.67 0.67 0.676 0.658746 0.5934 0.6875 0.6859 0.7572 0.544 0.61 0.7 0.61 0.76 0.6276 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.368109 NA NA 0.586279 0.744893 NA 0.725 NA 5.8593876 1066 6 38771168 38771168 T C intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA Name=GATA3_(SC-268),FOXA1_(C-20),p300 Name=5 NA rs55939633 0.15 0.15 0.118 0.130791 0.1412 0.127 0.2464 0.093 0.093 0.15 0.13 0.22 0.11 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256689 NA NA NA NA NA 0.21 NA 5.8588 1066 16 16244174 16244174 T C intronic ABCC6 NA NA NA intronic ENSG00000091262 NA NA NA NA NA 16p13.11 NA Name=NRSF Name=82 NA rs212098 0.15 0.15 0.136 0.127396 0.1412 0.2192 0.1354 0.0923 0.0603 0.14 0.24 0.15 0.09 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019828 NA NA NA NA NA 0.101 NA 5.8588 1066 17 73513867 73513867 G A intronic TSEN54 NA NA NA intronic ENSG00000182173 NA NA NA NA NA 17q25.1 NA Name=CTCF,EBF1_(C-8),c-Myc Name=43 NA rs58787501 0.1 0.1 0.101 0.0938498 0.1412 0.0298 0.0865 0.0998 0.1084 0.14 0.03 0.13 0.11 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043437 NA NA NA NA NA 0.196 NA 5.8588 1066 19 20003109 20003109 A G exonic ZNF253 NA synonymous SNV ZNF253:NM_021047:exon4:c.A1053G:p.L351L exonic ENSG00000256771 NA synonymous SNV ENSG00000256771:ENST00000355650:exon2:c.A825G:p.L275L,ENSG00000256771:ENST00000589717:exon4:c.A1053G:p.L351L NA NA 19p12 NA Name=ZNF274 NA NA rs8106559 0.47 0.47 0.471 0.483626 0.2376 0.6815 0.379 0.6762 0.3466 0.24 0.7 0.33 0.64 0.3269 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791645 NA NA 0.243925 0.609217 NA 0.449 NA 5.8582416 1066 4 16362753 16362753 G A intergenic TAPT1-AS1,LDB2 dist=102943;dist=140412 NA NA ncRNA_exonic ENSG00000249506 NA NA NA Score=816;Name=lod=2762 NA 4p15.32 NA Name=HA-E2F1 NA NA rs16893388 0.18 0.18 0.153 0.192292 0.1421 0.0456 0.2089 0.354 0.1646 0.15 0.05 0.21 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048623 NA NA NA NA NA 0.116 NA 5.8579 1066 12 133423695 133423695 A G exonic CHFR NA synonymous SNV CHFR:NM_001161347:exon13:c.T1429C:p.L477L,CHFR:NM_001161344:exon15:c.T1705C:p.L569L,CHFR:NM_001161345:exon15:c.T1702C:p.L568L,CHFR:NM_001161346:exon15:c.T1669C:p.L557L,CHFR:NM_018223:exon15:c.T1582C:p.L528L exonic ENSG00000072609 NA synonymous SNV ENSG00000072609:ENST00000537522:exon7:c.T571C:p.L191L,ENSG00000072609:ENST00000443047:exon13:c.T1429C:p.L477L,ENSG00000072609:ENST00000315585:exon15:c.T1582C:p.L528L,ENSG00000072609:ENST00000432561:exon15:c.T1705C:p.L569L,ENSG00000072609:ENST00000450056:exon15:c.T1669C:p.L557L,ENSG00000072609:ENST00000266880:exon16:c.T1702C:p.L568L Score=493;Name=lod=135 NA 12q24.33 NA NA NA NA rs2306537 0.18 0.18 0.162 0.142372 0.2803 0.1736 0.1571 0.0106 0.136 0.29 0.18 0.16 0.02 0.2299 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.565141 1.565141 NA 0.298721 0.050613 NA 0.167 NA 5.8577456 1066 22 43619200 43619200 G A exonic SCUBE1 NA synonymous SNV SCUBE1:NM_173050:exon11:c.C1230T:p.R410R exonic ENSG00000159307 NA synonymous SNV ENSG00000159307:ENST00000360835:exon11:c.C1230T:p.R410R Score=284;Name=lod=19 NA 22q13.2 NA NA NA NA rs6003114 0.2 0.2 0.209 0.223642 0.2505 0.0327 0.2939 0.236 0.3262 0.25 0.04 0.28 0.23 0.2749 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864869 NA NA 0.283721 0.264412 NA 0.341 NA 5.8575456 1066 12 123345736 123345736 C G exonic HIP1R NA synonymous SNV HIP1R:NM_003959:exon30:c.C2949G:p.T983T exonic ENSG00000130787 NA synonymous SNV ENSG00000130787:ENST00000253083:exon30:c.C2949G:p.T983T Score=546;Name=lod=220 NA 12q24.31 Score=892;Name=V$ZID_01 NA NA NA rs10847910 0.91 0.91 0.893 0.887979 0.9364 0.9901 0.964 0.7617 0.8497 0.93 0.99 0.95 0.75 0.9225 0.99 . . . . . . . . 0.000 P . . . . -1.026 T 0.000 T . 1.422 10.69 -1.11 -0.087 -0.314 3.813 1.421643 1.421643 NA 0.950814 0.797322 NA 0.891 NA 5.8569526 1066 22 24917852 24917852 G A intronic UPB1 NA NA NA intronic ENSG00000100024 NA NA NA NA NA 22q11.23 NA Name=CTCF_(C-20),c-Fos,ZNF263,CTCF_(SC-5916),NANOG_(SC-33759),JunD,CTCF,p300,GR,ELF1_(SC-631),Rad21,GATA3_(SC-268),SP1,SMC3_(ab9263),Znf143_(16618-1-AP) Name=140 NA rs2232868 0.12 0.12 0.102 0.153155 0.1431 0.0645 0.2003 0.1286 0.2546 0.13 0.07 0.18 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.775944 NA NA NA NA NA 0.138 NA 5.8569 1066 22 37578214 37578214 T C UTR3 C1QTNF6 NM_182486:c.*14A>G,NM_031910:c.*14A>G NA NA ncRNA_UTR3 ENSG00000133466 NA NA NA NA NA 22q12.3 NA Name=EBF,CTCF,Rad21 Name=9 NA rs916235 0.3 0.3 0.285 0.278355 0.2127 0.4673 0.1859 0.2685 0.2301 0.21 0.5 0.19 0.26 0.2331 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365617 NA NA 0.197674 0.265093 NA 0.261 NA 5.856526 1066 12 9268473 9268473 A C UTR5 A2M NM_000014:c.-28T>G NA NA UTR5 ENSG00000175899 ENST00000318602:c.-28T>G NA NA NA NA 12p13.31 NA Name=TBP,HEY1,Sin3Ak-20,HDAC2_(SC-6296),FOXA1_(C-20),HNF4A_(H-171),p300,HNF4G_(SC-6558),ELF1_(SC-631),FOXA2_(SC-6554),Pol2,TCF4,TAF1 NA NA rs226380 0.46 0.46 0.467 0.473243 0.497 0.124 0.5115 0.8018 0.3374 0.5 0.12 0.52 0.77 0.4753 0.77 1 T . . . . . . 0.981 P . . . . -0.937 T 0.000 T . 0.775 8.092 -2.01 -0.637 -0.299 0.424 0.77467 NA NA 0.504714 0.759907 NA 0.58 NA 5.8563194 1066 17 37351285 37351285 T C intronic CACNB1 NA NA NA intronic ENSG00000067191 NA NA NA NA NA 17q12 NA Name=JunD Name=3 NA rs534012 0.13 0.13 0.084 0.0750799 0.1441 0.0595 0.0994 0.0333 0.0593 0.18 0.09 0.14 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884778 NA NA NA NA NA 0.109 NA 5.8559 1066 21 24781262 24781262 T A intergenic D21S2088E,LOC339622 dist=24106;dist=1431602 NA NA ncRNA_exonic ENSG00000237569 NA NA NA Score=782;Name=lod=2014 NA 21q21.2 NA Name=NRSF NA NA rs2298407 0.21 0.21 0.221 0.215256 0.1441 0.2887 0.1383 0.261 0.2055 0.15 0.28 0.14 0.27 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928456 NA NA NA NA NA 0.312 NA 5.8559 1066 5 145477855 145477855 T C exonic PLAC8L1 NA synonymous SNV PLAC8L1:NM_001029869:exon2:c.A120G:p.R40R exonic ENSG00000173261 NA synonymous SNV ENSG00000173261:ENST00000311450:exon2:c.A120G:p.R40R,ENSG00000173261:ENST00000512998:exon2:c.A120G:p.R40R Score=265;Name=lod=16 NA 5q32 NA NA NA NA rs6877277 0.23 0.23 0.2 0.217652 0.2545 0.1984 0.3991 0.1324 0.1861 0.25 0.2 0.32 0.15 0.276 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.550533 1.550533 NA 0.280581 0.17862 ID=COSM149959;OCCURENCE=1(stomach) 0.297 NA 5.8555856 1066 11 123598941 123598941 T C exonic ZNF202 NA synonymous SNV ZNF202:NM_003455:exon7:c.A732G:p.V244V exonic ENSG00000166261 NA synonymous SNV ENSG00000166261:ENST00000529691:exon5:c.A732G:p.V244V,ENSG00000166261:ENST00000336139:exon6:c.A732G:p.V244V,ENSG00000166261:ENST00000530393:exon7:c.A732G:p.V244V NA NA 11q24.1 Score=704;Name=V$HOX13_01 NA NA NA rs2282644 0.23 0.23 0.203 0.229233 0.2694 0.3552 0.2968 0.0159 0.2986 0.28 0.32 0.25 0.03 0.2613 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10827 NA NA 0.280414 0.059946 NA 0.326 NA 5.8555526 1067 15 78953740 78953740 G A intergenic CHRNB4,LOC646938 dist=20153;dist=90639 NA NA ncRNA_exonic ENSG00000213307,ENSG00000261303 NA NA NA Score=488;Name=lod=128 NA 15q25.1 NA Name=YY1 NA NA rs7163204 0.22 0.22 0.18 0.257987 0.1451 0.2341 0.4366 0.1679 0.3937 0.15 0.24 0.36 0.19 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403466 NA NA NA NA NA 0.21 NA 5.8549 1067 17 17948475 17948475 G A exonic GID4 NA synonymous SNV GID4:NM_024052:exon2:c.G453A:p.G151G exonic ENSG00000141034 NA synonymous SNV ENSG00000141034:ENST00000268719:exon2:c.G453A:p.G151G,ENSG00000141034:ENST00000376345:exon2:c.G453A:p.G151G Score=624;Name=lod=458 NA 17p11.2 Score=862;Name=V$GR_Q6 NA NA NA rs2955355 0.42 0.42 0.418 0.366014 0.6233 0.0952 0.4625 0.4327 0.2219 0.63 0.08 0.52 0.44 0.5233 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112098 NA NA 0.66593 0.463232 NA 0.514 NA 5.8541366 1067 3 16475256 16475256 A G intronic RFTN1 NA NA NA intronic ENSG00000131378 NA NA NA NA NA 3p24.3 NA Name=Oct-2,PAX5-C20,PAX5-N19,ZEB1_(SC-25388),NFKB,CHD2_(N-1250),TBP,p300,TCF12,POU2F2,EBF,MEF2A,IRF4_(M-17),Pol2-4H8,BCL11A,PU.1,SP1,NRSF Name=5 NA rs2303851 0.1 0.1 0.092 0.0748802 0.1461 0.1171 0.0836 0.0076 0.0429 0.14 0.13 0.09 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786694 NA NA NA NA NA 0.188 NA 5.8539 1067 12 11461292 11461292 C G exonic PRB4 NA nonsynonymous SNV PRB4:NM_002723:exon3:c.G625C:p.A209P,PRB4:NM_001261399:exon4:c.G418C:p.A140P exonic ENSG00000230657 NA nonsynonymous SNV ENSG00000230657:ENST00000279575:exon3:c.G625C:p.A209P,ENSG00000230657:ENST00000535904:exon3:c.G625C:p.A209P,ENSG00000230657:ENST00000445719:exon4:c.G418C:p.A140P NA NA 12p13.2 NA NA NA NA rs1052808 0.77 0.77 0.747 0.754992 0.8499 0.8075 0.8429 0.6218 0.7209 0.85 0.8 0.84 0.58 0.8033 0.85 0.95 T 0.0 B 0.0 B . . 1.000 P -0.55 N 3.79 T -1.034 T 0.000 T 0.087 -0.693 0.996 -1.83 -0.596 -2.515 6.477 -0.692536 NA 0.29 0.826512 0.679074 NA 0.616 NA 5.8536214 1067 11 64697950 64697950 C T intronic PPP2R5B NA NA NA intronic ENSG00000068971 NA NA NA Score=542;Name=lod=213 NA 11q13.1 Score=804;Name=V$BRN2_01 NA NA NA rs111934356 0.03 0.03 0.036 0.0371406 0.0497 NA 0.0389 0.0416 0.0552 0.05 NA 0.04 0.04 0.0431 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.792659 1.792659 NA 0.053642 0.035666 NA 0.022 NA 5.853558 1067 22 41075695 41075695 C T exonic MCHR1 NA synonymous SNV MCHR1:NM_005297:exon1:c.C246T:p.N82N exonic ENSG00000128285 NA synonymous SNV ENSG00000128285:ENST00000249016:exon1:c.C246T:p.N82N,ENSG00000128285:ENST00000381433:exon1:c.C246T:p.N82N Score=441;Name=lod=83 NA 22q13.2 NA Name=Egr-1 NA NA rs133073 0.67 0.67 0.656 0.617612 0.6054 0.9792 0.3991 0.5756 0.4693 0.59 0.99 0.42 0.59 0.5956 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17125 NA NA 0.612209 0.57626 NA 0.565 NA 5.8534576 1067 13 46276503 46276503 G C UTR5 SPERT NM_152719:c.-23G>C NA NA UTR5 ENSG00000174015 ENST00000310521:c.-23G>C,ENST00000533564:c.-23G>C NA NA NA NA 13q14.13 NA Name=Pol2,Pol2-4H8 Name=5 NA rs872556 0.13 0.13 0.134 0.125 0.1779 0.0089 0.1182 0.174 0.1288 0.17 0.0017 0.13 0.2 0.1421 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.767348 1.767348 NA 0.160233 0.196323 NA 0.101 NA 5.8531004 1067 9 124083471 124083471 C T intronic GSN NA NA NA intronic ENSG00000148180 NA NA NA NA NA 9q33.2 NA Name=CTCF Name=43 NA rs16910509 0.07 0.07 0.06 0.0623003 0.1471 0.0099 0.0821 0.0265 0.0634 0.13 0.01 0.1 0.03 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466528 NA NA NA NA NA 0.022 NA 5.8529 1067 8 28574803 28574803 G A exonic EXTL3 NA synonymous SNV EXTL3:NM_001440:exon3:c.G1227A:p.P409P exonic ENSG00000012232 NA synonymous SNV ENSG00000012232:ENST00000220562:exon3:c.G1227A:p.P409P,ENSG00000012232:ENST00000523149:exon3:c.G75A:p.P25P Score=389;Name=lod=51 NA 8p21.1 NA NA NA NA rs240951 0.27 0.27 0.266 0.26238 0.2813 0.3472 0.2738 0.1876 0.2485 0.28 0.34 0.3 0.16 0.2721 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107481 NA NA 0.261395 0.208806 NA 0.464 NA 5.8518716 1067 2 133542545 133542545 G A exonic NCKAP5 NA synonymous SNV NCKAP5:NM_207363:exon14:c.C1839T:p.S613S exonic ENSG00000176771 NA synonymous SNV ENSG00000176771:ENST00000317721:exon12:c.C1839T:p.S613S,ENSG00000176771:ENST00000409261:exon14:c.C1839T:p.S613S NA NA 2q21.2 Score=796;Name=V$OLF1_01 NA NA NA rs10191147 0.36 0.36 0.397 0.353634 0.2555 0.494 0.2997 0.4395 0.2321 0.24 0.51 0.31 0.42 0.2961 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.736875 NA NA 0.264144 0.415341 NA 0.362 NA 5.8509226 1067 6 29545494 29545494 C G intergenic UBD,SNORD32B dist=17792;dist=4535 NA NA ncRNA_exonic ENSG00000227609 NA NA NA NA NA 6p22.1 NA Name=JunD Name=2 NA rs34927823 0.15 0.15 0.135 0.117013 0.1491 0.2391 0.1628 0.0053 0.0767 0.15 0.24 0.16 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196434 NA NA NA NA NA 0.145 NA 5.8509 1067 17 38020419 38020419 T C UTR5 IKZF3 NM_183231:c.-40A>G,NM_183229:c.-40A>G,NM_183228:c.-40A>G,NM_012481:c.-40A>G,NM_001257410:c.-40A>G,NM_001257409:c.-40A>G,NM_001257408:c.-40A>G,NM_183232:c.-40A>G,NM_183230:c.-40A>G,NM_001257414:c.-40A>G,NM_001257413:c.-40A>G,NM_001257412:c.-40A>G,NM_001257411:c.-40A>G NA NA UTR5 ENSG00000161405 ENST00000346872:c.-40A>G,ENST00000377952:c.-40A>G,ENST00000535189:c.-40A>G,ENST00000377958:c.-40A>G,ENST00000377944:c.-40A>G,ENST00000394189:c.-40A>G,ENST00000377945:c.-40A>G,ENST00000293068:c.-40A>G,ENST00000348427:c.-40A>G,ENST00000439167:c.-40A>G NA NA Score=433;Name=lod=77 NA 17q12 NA Name=POU2F2,USF2,E2F6_(H-50),TAF1,BCL11A,YY1_(C-20),E2F6,USF1_(SC-8983),MEF2A,NRSF,Pol2,SMC3_(ab9263),MEF2C_(SC-13268),Oct-2,Max,CTCF,Pbx3,HA-E2F1,Sin3Ak-20,Pol2-4H8,ZNF263,YY1,PAX5-C20,SETDB1,CCNT2,SUZ12,c-Myc,BCL3,NFKB,USF-1,Nrf1,TCF12 Name=68 NA rs1453559 0.48 0.48 0.445 0.457069 0.5189 0.2827 0.4236 0.6392 0.3507 0.53 0.31 0.44 0.63 0.4716 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284863 1.284863 NA 0.492252 0.595336 NA 0.486 NA 5.8505814 1067 11 7818190 7818190 C T exonic OR5P2 NA synonymous SNV OR5P2:NM_153444:exon1:c.G300A:p.A100A exonic ENSG00000183303 NA synonymous SNV ENSG00000183303:ENST00000329434:exon1:c.G300A:p.A100A NA NA 11p15.4 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs73406607 0.27 0.27 0.265 0.236621 0.2763 0.128 0.2911 0.348 0.1186 0.29 0.15 0.28 0.37 0.2574 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.233419 NA NA 0.282386 0.32557 ID=COSM1559365;OCCURENCE=2(central_nervous_system) 0.239 NA 5.8505806 1067 13 23905711 23905711 A G exonic SACS NA synonymous SNV SACS:NM_014363:exon10:c.T12304C:p.L4102L exonic ENSG00000151835 NA synonymous SNV ENSG00000151835:ENST00000402364:exon8:c.T10054C:p.L3352L,ENSG00000151835:ENST00000382292:exon9:c.T12304C:p.L4102L,ENSG00000151835:ENST00000382298:exon10:c.T12304C:p.L4102L NA NA 13q12.12 NA NA NA NA rs2737699 0.27 0.27 0.233 0.258387 0.2783 0.3145 0.3617 0.053 0.3845 0.28 0.36 0.36 0.06 0.278 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.811637 NA NA 0.259828 0.096686 NA 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118230.2;CLNDSDB=.;CLNDSDBID=. 5.8505386 1067 11 7817665 7817665 T C exonic OR5P2 NA synonymous SNV OR5P2:NM_153444:exon1:c.A825G:p.T275T exonic ENSG00000183303 NA synonymous SNV ENSG00000183303:ENST00000329434:exon1:c.A825G:p.T275T Score=532;Name=lod=193 NA 11p15.4 NA NA NA NA rs72484720 0.27 0.27 0.25 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 0.2575 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231367 NA NA 0.282502 0.32519 NA 0.261 NA 5.8503646 1067 2 220356520 220356520 G T exonic SPEG NA synonymous SNV SPEG:NM_005876:exon39:c.G9390T:p.P3130P exonic ENSG00000072195 NA synonymous SNV ENSG00000072195:ENST00000312358:exon39:c.G9390T:p.P3130P Score=510;Name=lod=157 NA 2q35 NA NA NA NA rs12473286 0.24 0.24 0.238 0.280751 0.2744 0.1458 0.2723 0.267 0.4509 0.27 0.16 0.29 0.24 0.2798 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991456 NA NA 0.26224 0.24597 NA 0.152 NA 5.8502266 1067 1 32403089 32403089 A G intronic PTP4A2 NA NA NA intronic ENSG00000184007 NA NA NA NA NA 1p35.1 NA Name=TAF1,Pol2(b),Pol2,Pol2-4H8,HDAC2_(SC-6296),c-Myc,HEY1 Name=119 NA rs636503 0.33 0.33 0.34 0.385583 0.1501 0.3958 0.3098 0.6263 0.3456 0.16 0.37 0.23 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.505332 2.505332 NA NA NA NA 0.435 NA 5.8499 1067 1 183209086 183209086 C A intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA Score=300;Name=lod=22 NA 1q25.3 NA NA Name=8 NA rs2477436 0.31 0.31 0.33 0.345647 0.1501 0.3403 0.3242 0.5129 0.3415 0.16 0.34 0.3 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136225 NA NA NA NA ID=COSN163368;OCCURENCE=1(NS) 0.268 NA 5.8499 1067 13 90014216 90014216 T A intergenic LINC00433,LINC00353 dist=816452;dist=186832 NA NA ncRNA_exonic ENSG00000225530 NA NA NA Score=783;Name=lod=2019 NA 13q31.3 NA Name=CTCF NA NA rs56223692 0.07 0.07 0.072 0.0535144 0.1501 0.002 0.0576 0.0045 0.0706 0.16 0.0035 0.08 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41903 NA NA NA NA NA 0.123 NA 5.8499 1067 6 29894392 29894392 G T upstream HCG4B NA NA NA ncRNA_exonic ENSG00000227262 NA NA NA NA NA 6p22.1 NA Name=YY1,YY1_(C-20) Name=3 NA rs1627764 0.34 0.34 0.338 0.36242 0.3171 0.2758 0.2954 0.4493 0.4284 0.3 0.3 0.36 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159814 NA NA NA NA NA 0.29 NA 5.8495666 1067 12 72666485 72666485 A G ncRNA_exonic TRHDE-AS1 NA NA NA ncRNA_UTR5 ENSG00000072657 NA NA NA Score=588;Name=lod=326 NA 12q21.1 NA Name=CTCF NA NA rs74594364 NA NA NA 0.839657 0.8171 0.9177 0.8545 0.7958 0.8313 NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378538 NA NA NA NA NA 0.058 NA 5.8495666 1067 12 72666488 72666488 G A ncRNA_exonic TRHDE-AS1 NA NA NA ncRNA_UTR5 ENSG00000072657 NA NA NA Score=588;Name=lod=326 NA 12q21.1 NA Name=CTCF NA NA rs78720771 NA NA NA 0.839657 0.8171 0.9177 0.8545 0.7958 0.8313 NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179735 NA NA NA NA NA 0.058 NA 5.8495666 1067 1 157485504 157485504 G A exonic FCRL5 NA nonsynonymous SNV FCRL5:NM_001195388:exon17:c.C2885T:p.P962L exonic ENSG00000143297 NA synonymous SNV ENSG00000143297:ENST00000356953:exon17:c.C2895T:p.S965S,ENSG00000143297:ENST00000361835:exon17:c.C2895T:p.S965S NA NA 1q23.1 NA NA NA NA rs115493285 0.03 0.03 0.026 0.0223642 0.0676 0.001 0.036 0.0038 0.0133 0.06 NA 0.05 0.0041 0.0328 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134397 NA NA 0.050116 0.010213 ID=COSM424176;OCCURENCE=1(breast) 0.029 NA 5.849484 1067 10 27444578 27444578 C T intronic MASTL NA NA NA intronic ENSG00000120539 NA NA NA NA NA 10p12.1 NA Name=E2F4 Name=145 NA rs41282218 0.04 0.04 0.032 0.04373 0.0537 0.004 0.0317 0.0802 0.0337 0.05 0.0035 0.04 0.06 0.0471 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408829 1.408829 NA 0.049767 0.080799 NA 0.051 NA 5.849433 1067 5 157158701 157158701 C G intronic THG1L NA NA NA intronic ENSG00000113272 NA NA NA NA NA 5q33.3 NA Name=IRF1,GTF2F1_(RAP-74),CHD2_(N-1250),BAF155,ELF1_(SC-631),HEY1,NFKB,NF-YB,Pol2(phosphoS2),NANOG_(SC-33759),Pol2,RFX5_(N-494),Mxi1_(bHLH),NRSF,SP1,KAP1,ZNF263,E2F6,Pol2-4H8,GATA-2,HA-E2F1,NF-YA,Pol2(b),TAF1,E2F6_(H-50),GABP,ELK4 Name=148 NA rs2270816 0.15 0.15 0.152 0.158746 0.1511 0.0823 0.1729 0.208 0.1687 0.16 0.09 0.14 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488106 NA NA NA NA NA 0.094 NA 5.8489 1067 6 31116210 31116210 G A exonic CCHCR1 NA synonymous SNV CCHCR1:NM_001105563:exon10:c.C1444T:p.L482L,CCHCR1:NM_001105564:exon10:c.C1552T:p.L518L,CCHCR1:NM_019052:exon10:c.C1285T:p.L429L exonic ENSG00000204536 NA synonymous SNV ENSG00000204536:ENST00000376266:exon10:c.C1285T:p.L429L,ENSG00000204536:ENST00000396263:exon10:c.C1285T:p.L429L,ENSG00000204536:ENST00000396268:exon10:c.C1552T:p.L518L,ENSG00000204536:ENST00000451521:exon10:c.C1444T:p.L482L Score=363;Name=lod=40 NA 6p21.33 NA NA NA NA rs130071 0.21 0.21 0.216 0.195487 0.2793 0.0575 0.2608 0.1815 0.2239 0.29 0.06 0.28 0.2 0.2488 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229459 NA NA 0.290251 0.215186 NA 0.225 NA 5.8483156 1067 9 8858043 8858043 C T intronic PTPRD NA NA NA intronic ENSG00000153707 NA NA NA NA NA 9p24.1 NA Name=TAF1,ZNF263 Name=46 NA rs118166957 0.18 0.18 0.138 0.170527 0.1521 0.255 0.2248 0.1392 0.1063 0.15 0.27 0.22 0.1 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652401 NA NA NA NA NA 0.029 NA 5.8479 1067 8 124664874 124664874 T C exonic KLHL38 NA nonsynonymous SNV KLHL38:NM_001081675:exon1:c.A293G:p.H98R exonic ENSG00000175946 NA nonsynonymous SNV ENSG00000175946:ENST00000325995:exon1:c.A293G:p.H98R NA NA 8q24.13 NA NA NA NA rs7386562 0.64 0.64 0.736 0.727037 0.8579 0.7113 0.7118 0.6672 0.7004 0.72 0.61 0.67 0.51 0.79 0.84 0.71 T 0.0 B 0.0 B 0.207 N 1.000 P 0.43 N -0.19 T -0.982 T 0.000 T 0.015 -1.282 0.042 -10.7 -2.417 -0.180 0.683 -1.282167 NA 0.56 0.837783 0.71582 NA NA NA 5.8476504 1067 15 78200594 78200594 G A intergenic LOC253044,LOC645752 dist=259013;dist=5965 NA NA intergenic ENSG00000260139,ENSG00000260776 dist=3578;dist=5965 NA NA Score=574;Name=lod=287 NA 15q24.3 NA Name=CTCF,ZNF263,PAX5-C20 Name=103 NA rs4325522 0.32 0.32 0.31 0.276957 0.4861 0.1597 0.2795 0.2216 0.2556 0.48 0.18 0.32 0.24 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.559951 NA NA NA NA NA 0.413 NA 5.8472334 1067 16 66597143 66597143 G T intronic CKLF,CKLF-CMTM1 NA NA NA intronic ENSG00000217555,ENSG00000254788 NA NA NA NA NA 16q21 NA Name=GATA-1 Name=3 NA rs2232726 0.09 0.09 0.073 0.0994409 0.0497 0.1101 0.1427 0.0991 0.1094 0.05 0.11 0.13 0.08 0.0745 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807696 NA NA 0.028605 0.099046 NA 0.051 NA 5.847195 1067 7 19748700 19748700 G A upstream TWISTNB NA NA NA UTR5 ENSG00000105849 ENST00000222567:c.-61C>T NA NA NA NA 7p21.1 NA Name=TBP,IRF1,PAX5-C20,PAX5-N19,SRF,GRp20,CTCF_(C-20),SIX5,CCNT2,c-Myc,HEY1,NFKB,HA-E2F1,Sin3Ak-20,KAP1,Pol2-4H8,CTCF_(SC-5916),RFX5_(N-494),Ini1,YY1,FOXA1_(C-20),Pol2(b),CEBPB,GTF2F1_(RAP-74),CHD2_(N-1250),CTCF,p300,Oct-2,Max,STAT1,Rad21,ELF1_(SC-631),YY1_(C-20),BRCA1_(C-1863),TAF7_(SQ-8),E2F6,eGFP-JunD,IRF4_(M-17),USF1_(SC-8983),Pol2,ATF3,Mxi1_(bHLH),NRSF,SP1,Pol2(phosphoS2),TCF4,SMC3_(ab9263),E2F4,WHIP,POU2F2,USF2,HMGN3,TAF1,ETS1,E2F6_(H-50),Znf143_(16618-1-AP) Name=148 NA rs2072185 0.26 0.26 0.241 0.264177 0.1531 0.5804 0.183 0.1725 0.2342 0.15 0.55 0.18 0.17 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324168 NA NA NA NA NA 0.217 NA 5.8469 1067 20 44750850 44750850 C G intronic CD40 NA NA NA intronic ENSG00000101017 NA NA NA NA NA 20q13.12 NA Name=c-Jun,c-Fos,STAT3,FOSL2,p300 Name=88 NA rs11569317 0.04 0.04 0.037 0.0405351 0.0507 0.0079 0.0245 0.0749 0.0286 0.05 0.01 0.01 0.08 0.0494 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.693716 1.693716 NA 0.05314 0.081253 NA 0.036 NA 5.84676 1067 2 113887207 113887207 T C exonic IL1RN NA synonymous SNV IL1RN:NM_173842:exon2:c.T171C:p.A57A,IL1RN:NM_000577:exon3:c.T117C:p.A39A,IL1RN:NM_173841:exon4:c.T180C:p.A60A,IL1RN:NM_173843:exon4:c.T69C:p.A23A exonic ENSG00000136689 NA synonymous SNV ENSG00000136689:ENST00000409930:exon2:c.T171C:p.A57A,ENSG00000136689:ENST00000354115:exon3:c.T117C:p.A39A,ENSG00000136689:ENST00000259206:exon4:c.T180C:p.A60A,ENSG00000136689:ENST00000361779:exon4:c.T69C:p.A23A,ENSG00000136689:ENST00000409052:exon6:c.T69C:p.A23A Score=366;Name=lod=41 NA 2q13 NA NA NA NA rs419598 0.18 0.18 0.154 0.191693 0.2922 0.0942 0.3314 0.0333 0.3037 0.29 0.08 0.33 0.04 0.2491 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663398 NA NA 0.278837 0.064231 NA 0.246 NA 5.8465296 1067 15 78200581 78200581 G A intergenic LOC253044,LOC645752 dist=259000;dist=5978 NA NA intergenic ENSG00000260139,ENSG00000260776 dist=3565;dist=5978 NA NA Score=574;Name=lod=287 NA 15q24.3 NA Name=CTCF,ZNF263 Name=103 NA rs4325521 0.32 0.32 0.318 0.277356 0.4871 0.1597 0.2795 0.2216 0.2566 0.48 0.18 0.33 0.24 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056681 NA NA NA NA NA 0.413 NA 5.8462334 1067 22 24921558 24921558 C T intronic UPB1 NA NA NA intronic ENSG00000100024 NA NA NA NA NA 22q11.23 NA Name=HNF4A_(H-171),FOXA1_(C-20),JunD,eGFP-JunB,FOSL2,c-Fos,ZNF263,HDAC2_(SC-6296),c-Jun,RFX5_(N-494),CTCF_(SC-5916),eGFP-FOS,CTCF_(C-20),NFKB,ERRA,GABP,POU2F2,Znf143_(16618-1-AP),IRF4_(M-17),eGFP-JunD,YY1_(C-20),HNF4A,SMC3_(ab9263),SP1,ATF3,Oct-2,HNF4G_(SC-6558),ELF1_(SC-631),Rad21,FOXA1_(SC-101058),FOSL1_(SC-183),BATF,GTF2F1_(RAP-74),RXRA,p300,CTCF Name=142 NA rs5996713 0.12 0.12 0.102 0.159744 0.1541 0.0665 0.2003 0.1293 0.274 0.14 0.07 0.18 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354853 NA NA NA NA NA 0.138 NA 5.8459 1067 6 90390443 90390443 C A exonic MDN1 NA nonsynonymous SNV MDN1:NM_014611:exon74:c.G12130T:p.A4044S exonic ENSG00000112159 NA nonsynonymous SNV ENSG00000112159:ENST00000369393:exon74:c.G12130T:p.A4044S,ENSG00000112159:ENST00000428876:exon74:c.G12130T:p.A4044S NA NA 6q15 NA NA NA NA rs9353689 0.66 0.66 0.652 0.611821 0.4712 0.9077 0.7046 0.612 0.3855 0.49 0.92 0.68 0.63 0.5365 0.92 0.81 T 0.145 B 0.048 B 0.598 N 1.000 P 1.355 L 4.07 T -0.917 T 0.003 T 0.06 0.652 7.498 -0.328 -0.083 -0.218 8.681 0.652024 NA 0.68 0.479767 0.613255 NA 0.514 NA 5.8458664 1067 15 90903311 90903311 A G exonic ZNF774 NA nonsynonymous SNV ZNF774:NM_001004309:exon4:c.A248G:p.N83S exonic ENSG00000196391 NA nonsynonymous SNV ENSG00000196391:ENST00000354377:exon4:c.A248G:p.N83S NA NA 15q26.1 NA NA NA NA rs2589957 0.67 0.67 0.668 0.6875 0.4513 0.8393 0.6873 0.8177 0.5982 0.46 0.86 0.62 0.8 0.5618 0.86 0.62 T 0.0 B 0.0 B 0.552 N 1.000 P -0.55 N 1.78 T -1.030 T 0.000 T 0.001 -0.16 3.219 1.71 0.024 0.019 1.598 -0.159861 NA 1 0.474523 0.745794 NA 0.63 NA 5.8457104 1067 8 92364100 92364100 T C exonic SLC26A7 NA synonymous SNV SLC26A7:NM_052832:exon10:c.T1203C:p.L401L,SLC26A7:NM_134266:exon10:c.T1203C:p.L401L exonic ENSG00000147606 NA synonymous SNV ENSG00000147606:ENST00000276609:exon10:c.T1203C:p.L401L,ENSG00000147606:ENST00000309536:exon10:c.T1203C:p.L401L,ENSG00000147606:ENST00000523719:exon11:c.T1203C:p.L401L Score=536;Name=lod=201 NA 8q21.3 NA NA NA NA rs10109254 0.22 0.22 0.21 0.221046 0.2823 0.0357 0.2233 0.32 0.2137 0.28 0.03 0.25 0.32 0.2437 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766414 NA NA 0.295465 0.311394 NA 0.326 NA 5.8452016 1068 19 49385231 49385231 G A intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA Name=Pol2(b),Pol2-4H8,ERalpha_a,SIX5,c-Myc,Znf143_(16618-1-AP),ETS1,BAF170 Name=74 NA rs1005061 0.04 0.04 0.035 0.0491214 0.0795 0.002 0.0663 0.0121 0.1043 0.09 0.0017 0.07 0.01 0.0756 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828222 NA NA NA NA NA 0.022 NA 5.8449 1068 2 33488419 33488419 G A exonic LTBP1 NA synonymous SNV LTBP1:NM_000627:exon11:c.G1599A:p.T533T,LTBP1:NM_001166264:exon11:c.G1599A:p.T533T,LTBP1:NM_001166265:exon11:c.G1440A:p.T480T,LTBP1:NM_001166266:exon11:c.G1440A:p.T480T,LTBP1:NM_206943:exon15:c.G2577A:p.T859T exonic ENSG00000049323 NA synonymous SNV ENSG00000049323:ENST00000468091:exon5:c.G531A:p.T177T,ENSG00000049323:ENST00000413303:exon6:c.G561A:p.T187T,ENSG00000049323:ENST00000390003:exon11:c.G1602A:p.T534T,ENSG00000049323:ENST00000402934:exon11:c.G1440A:p.T480T,ENSG00000049323:ENST00000404525:exon11:c.G1440A:p.T480T,ENSG00000049323:ENST00000407925:exon11:c.G1599A:p.T533T,ENSG00000049323:ENST00000418533:exon11:c.G1599A:p.T533T,ENSG00000049323:ENST00000354476:exon15:c.G2580A:p.T860T,ENSG00000049323:ENST00000404816:exon15:c.G2577A:p.T859T Score=561;Name=lod=254 NA 2p22.3 NA NA NA NA rs12468099 0.19 0.19 0.189 0.167532 0.2863 0.2371 0.1844 0.0166 0.1656 0.3 0.21 0.18 0.02 0.2462 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620098 NA NA 0.289419 0.062869 NA 0.174 NA 5.8447476 1068 1 160394937 160394937 A C exonic VANGL2 NA synonymous SNV VANGL2:NM_020335:exon8:c.A1335C:p.G445G exonic ENSG00000162738 NA synonymous SNV ENSG00000162738:ENST00000368061:exon8:c.A1335C:p.G445G Score=669;Name=lod=696 NA 1q23.2 NA NA NA NA rs17380127 0.2 0.2 0.187 0.207468 0.2783 0.0843 0.2075 0.1702 0.3119 0.26 0.12 0.22 0.16 0.2513 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.49269 1.49269 NA 0.292558 0.170222 NA 0.232 NA 5.8445086 1068 5 118788196 118788196 C G UTR5 HSD17B4 NM_001199292:c.-75C>G,NM_000414:c.-75C>G NA NA UTR5 ENSG00000133835 ENST00000256216:c.-75C>G,ENST00000442060:c.-75C>G,ENST00000515320:c.-75C>G NA NA NA NA 5q23.1 NA Name=IRF1,c-Myc,ELF1_(SC-631),HEY1,SRF,SIX5,Pol2,Egr-1,HA-E2F1,YY1_(C-20),Pol2-4H8,E2F1,TAF1,Znf143_(16618-1-AP),E2F4,HMGN3 Name=148 NA rs26180 0.44 0.44 0.445 0.40635 0.4891 0.5119 0.5216 0.2201 0.3824 0.51 0.48 0.52 0.24 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.61375 1.61375 NA NA NA NA 0.319 NA 5.8442334 1068 18 47376103 47376103 C G intronic MYO5B NA NA NA ncRNA_exonic ENSG00000267322 NA NA NA NA NA 18q21.1 NA Name=TBP,eGFP-FOS,ZNF263,c-Fos,c-Jun,Pol2(b),JunD,FOSL2,GTF2F1_(RAP-74),Max,eGFP-JunD,TCF4,Pol2,TAF1 Name=125 NA rs490648 0.36 0.36 0.371 0.353235 0.4891 0.123 0.3429 0.4493 0.3282 0.47 0.13 0.39 0.43 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094082 NA NA NA NA NA 0.384 NA 5.8442333 1068 20 32990050 32990050 G T intronic ITCH NA NA NA ncRNA_exonic ENSG00000234933 NA NA NA Score=726;Name=lod=1193 NA 20q11.22 NA Name=HDAC2_(SC-6296),FOXA1_(C-20),p300,FOXA1_(SC-101058),SP1 NA NA rs4142007 0.54 0.54 0.516 0.566094 0.4891 0.5952 0.6816 0.5356 0.5746 0.46 0.59 0.62 0.55 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357342 NA NA NA NA NA 0.507 NA 5.8442333 1068 16 56667282 56667282 C A exonic MT1M NA nonsynonymous SNV MT1M:NM_176870:exon2:c.C59A:p.T20K exonic ENSG00000205364 NA nonsynonymous SNV ENSG00000205364:ENST00000379818:exon2:c.C59A:p.T20K,ENSG00000205364:ENST00000570233:exon2:c.C59A:p.T20K Score=295;Name=lod=21 NA 16q12.2 NA NA NA NA rs1827210 0.73 0.73 0.681 0.710663 0.832 0.6657 0.7867 0.5492 0.7965 0.84 0.7 0.8 0.54 0.8069 0.85 1 T 0.0 B 0.002 B 0.018 N 1.000 P . . 3.23 T -0.998 T 0.000 T 0.139 -2.343 0.004 -0.081 -0.602 0.288 4.092 -2.343099 NA 1 0.850814 0.601911 NA 0.768 NA 5.8436194 1068 14 38016044 38016044 C G intronic MIPOL1 NA NA NA intronic ENSG00000151338 NA NA NA Score=425;Name=lod=71 NA 14q21.1 NA Name=HEY1,TBP,FOXA2_(SC-6554),p300,Pol2 Name=8 NA rs10151200 0.68 0.68 0.656 0.632188 0.5795 0.8403 0.6671 0.5469 0.5624 0.59 0.87 0.67 0.59 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594936 NA NA 0.578567 0.583815 NA 0.674 NA 5.841933 1068 11 51426470 51426470 C T intergenic OR4A5,OR4C46 dist=14022;dist=88812 NA NA ncRNA_exonic ENSG00000255349 NA NA NA Score=482;Name=lod=121 NA 11p11.12 Score=808;Name=V$CDP_01 NA NA NA rs72486118 0.13 0.13 0.104 0.123802 0.1581 0.1438 0.1254 0.059 0.1544 0.16 0.15 0.11 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.978781 NA NA NA NA NA 0.181 NA 5.8419 1068 20 60736449 60736449 G A intronic SS18L1 NA NA NA intronic ENSG00000184402 NA NA NA NA NA 20q13.33 NA Name=Egr-1 Name=69 NA rs60991008 0.05 0.05 0.047 0.0746805 0.0537 0.003 0.049 0.1672 0.0634 0.04 NA 0.02 0.15 0.0524 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385271 NA NA 0.052258 0.152273 NA 0.109 NA 5.841642 1068 16 88061150 88061150 C T exonic BANP NA synonymous SNV BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I exonic ENSG00000172530 NA synonymous SNV ENSG00000172530:ENST00000355022:exon7:c.C840T:p.I280I,ENSG00000172530:ENST00000355163:exon7:c.C858T:p.I286I,ENSG00000172530:ENST00000393208:exon7:c.C840T:p.I280I,ENSG00000172530:ENST00000479780:exon7:c.C840T:p.I280I,ENSG00000172530:ENST00000286122:exon8:c.C933T:p.I311I,ENSG00000172530:ENST00000393207:exon8:c.C933T:p.I311I,ENSG00000172530:ENST00000538234:exon8:c.C957T:p.I319I NA NA 16q24.2 Score=789;Name=V$COMP1_01 NA NA NA rs74740586 0.4 0.4 0.328 0.3748 0.2674 0.5476 0.4496 0.3601 0.274 0.27 0.6 0.43 0.37 0.3138 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095387 NA NA 0.243837 0.338035 NA 0.384 NA 5.8416296 1068 7 133749164 133749164 G A exonic EXOC4 NA synonymous SNV EXOC4:NM_021807:exon18:c.G2808A:p.Q936Q exonic ENSG00000131558 NA synonymous SNV ENSG00000131558:ENST00000541309:exon6:c.G672A:p.Q224Q,ENSG00000131558:ENST00000545148:exon10:c.G1638A:p.Q546Q,ENSG00000131558:ENST00000253861:exon18:c.G2808A:p.Q936Q,ENSG00000131558:ENST00000539845:exon18:c.G2505A:p.Q835Q Score=507;Name=lod=153 NA 7q33 Score=718;Name=V$NRSF_01 NA NA NA rs6953296 0.68 0.68 0.649 0.669129 0.6014 0.7609 0.7622 0.7065 0.5276 0.6 0.76 0.73 0.67 0.6274 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031576 NA NA 0.596279 0.693373 NA 0.565 NA 5.8415876 1068 9 117103973 117103973 A G exonic AKNA NA nonsynonymous SNV AKNA:NM_030767:exon21:c.T3907C:p.S1303P exonic ENSG00000106948 NA nonsynonymous SNV ENSG00000106948:ENST00000374079:exon7:c.T742C:p.S248P,ENSG00000106948:ENST00000374075:exon19:c.T3664C:p.S1222P,ENSG00000106948:ENST00000223791:exon20:c.T2287C:p.S763P,ENSG00000106948:ENST00000307564:exon21:c.T3907C:p.S1303P,ENSG00000106948:ENST00000374088:exon21:c.T3907C:p.S1303P NA NA 9q32 NA NA NA NA rs2250242 0.61 0.61 0.605 0.610224 0.4841 0.6131 0.536 0.8828 0.4213 0.48 0.62 0.52 0.88 0.532 0.88 0.38 T 0.0 B 0.0 B 0.006 N 1.000 P -0.805 N 2.52 T -1.067 T 0.000 T 0.058 -0.736 0.858 0.646 0.042 -0.029 4.350 -0.736344 NA 0.39 0.476047 0.820699 NA 0.659 NA 5.8411864 1068 2 152387553 152387553 T C exonic NEB NA synonymous SNV NEB:NM_004543:exon117:c.A16446G:p.T5482T,NEB:NM_001164507:exon145:c.A21585G:p.T7195T,NEB:NM_001164508:exon145:c.A21585G:p.T7195T,NEB:NM_001271208:exon146:c.A21690G:p.T7230T exonic ENSG00000183091 NA synonymous SNV ENSG00000183091:ENST00000413693:exon45:c.A5775G:p.T1925T,ENSG00000183091:ENST00000172853:exon117:c.A16482G:p.T5494T,ENSG00000183091:ENST00000409198:exon118:c.A16482G:p.T5494T,ENSG00000183091:ENST00000603639:exon143:c.A21585G:p.T7195T,ENSG00000183091:ENST00000604864:exon143:c.A21585G:p.T7195T,ENSG00000183091:ENST00000397345:exon145:c.A21585G:p.T7195T,ENSG00000183091:ENST00000427231:exon145:c.A21585G:p.T7195T NA NA 2q23.3 Score=682;Name=V$P53_01 NA NA NA rs4664475 0.56 0.56 0.517 0.491613 0.6213 0.5585 0.6556 0.3525 0.3609 0.61 0.61 0.66 0.37 0.583 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994835 NA NA 0.621977 0.413248 NA 0.543 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081120.3;CLNDSDB=.;CLNDSDBID=. 5.8403896 1068 15 78200674 78200674 C T intergenic LOC253044,LOC645752 dist=259093;dist=5885 NA NA intergenic ENSG00000260139,ENSG00000260776 dist=3658;dist=5885 NA NA Score=574;Name=lod=287 NA 15q24.3 NA Name=CTCFL_(SC-98982),SMC3_(ab9263),CTCF,CTCF_(SC-5916),ZNF263,c-Myc,CTCF_(C-20),PAX5-C20 Name=103 NA rs4402533 0.32 0.32 0.29 0.279153 0.494 0.1657 0.2824 0.2171 0.2566 0.48 0.19 0.32 0.23 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.764388 NA NA NA NA NA 0.384 NA 5.8393334 1068 4 81000953 81000953 A G intergenic ANTXR2,PRDM8 dist=6476;dist=105471 NA NA ncRNA_exonic ENSG00000236530 NA NA NA Score=333;Name=lod=30 NA 4q21.21 NA NA Name=7 NA rs41407844 0.46 0.46 0.467 0.511382 0.161 0.6379 0.3415 0.8033 0.4673 0.15 0.65 0.32 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243195 NA NA NA NA NA 0.543 NA 5.839 1068 11 5141902 5141902 T C intergenic OR52E2,OR52A5 dist=61045;dist=11020 NA NA ncRNA_exonic ENSG00000205494 NA NA NA Score=295;Name=lod=21 NA 11p15.4 NA NA NA NA rs10837374 0.73 0.73 0.756 0.750799 0.7276 0.5675 0.7334 0.9175 0.7505 0.72 0.58 0.73 0.93 0.7237 0.93 0 D 0.0 B 0.0 B . . . . . . . . -1.028 T 0.000 T . 1.437 10.75 -1.51 -0.351 -1.714 6.585 1.437222 1.437222 1 0.71033 0.890504 NA 0.797 NA 5.83837 1068 8 125463098 125463098 A T UTR5 TRMT12 NM_017956:c.-71A>T NA NA UTR5 ENSG00000183665 ENST00000328599:c.-71A>T NA NA NA NA 8q24.13 NA Name=TBP,Nrf1,SIX5,c-Myc,NFKB,HEY1,Pol2-4H8,YY1,ELK4,p300,Oct-2,Max,ELF1_(SC-631),TAF7_(SQ-8),BRCA1_(C-1863),YY1_(C-20),TR4,SP1,PU.1,Pol2,Pol2(phosphoS2),POU2F2,GABP,TAF1 Name=146 NA rs3812474 0.55 0.55 0.544 0.570687 0.495 0.4415 0.4798 0.7806 0.5624 0.5 0.42 0.52 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15763 NA NA NA NA NA 0.493 NA 5.8383334 1068 19 5210782 5210782 G A exonic PTPRS NA synonymous SNV PTPRS:NM_130853:exon25:c.C3928T:p.L1310L,PTPRS:NM_130855:exon26:c.C3940T:p.L1314L,PTPRS:NM_130854:exon29:c.C5155T:p.L1719L,PTPRS:NM_002850:exon34:c.C5269T:p.L1757L exonic ENSG00000105426 NA synonymous SNV ENSG00000105426:ENST00000592099:exon24:c.C3928T:p.L1310L,ENSG00000105426:ENST00000353284:exon25:c.C3928T:p.L1310L,ENSG00000105426:ENST00000588012:exon28:c.C5155T:p.L1719L,ENSG00000105426:ENST00000348075:exon29:c.C5155T:p.L1719L,ENSG00000105426:ENST00000262963:exon30:c.C5209T:p.L1737L,ENSG00000105426:ENST00000587303:exon33:c.C5269T:p.L1757L,ENSG00000105426:ENST00000357368:exon34:c.C5269T:p.L1757L,ENSG00000105426:ENST00000372412:exon34:c.C5272T:p.L1758L Score=467;Name=lod=105 NA 19p13.3 NA NA NA NA rs1143698 0.32 0.32 0.311 0.335064 0.2714 0.0992 0.3516 0.5545 0.3354 0.28 0.12 0.33 0.59 0.2842 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082599 NA NA 0.273023 0.466636 ID=COSM148463;OCCURENCE=1(stomach) 0.217 NA 5.8380436 1068 6 85997097 85997097 T C intergenic TBX18,NT5E dist=523143;dist=162205 NA NA ncRNA_exonic ENSG00000217060 NA NA NA Score=684;Name=lod=800 NA 6q14.3 NA Name=FOXA1_(SC-101058),RXRA NA NA rs12199725 0.1 0.1 0.081 0.117212 0.162 0.0655 0.0548 0.0356 0.2791 0.17 0.06 0.07 0.03 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188191 NA NA NA NA NA 0.065 NA 5.838 1068 1 160395003 160395003 G A exonic VANGL2 NA synonymous SNV VANGL2:NM_020335:exon8:c.G1401A:p.P467P exonic ENSG00000162738 NA synonymous SNV ENSG00000162738:ENST00000368061:exon8:c.G1401A:p.P467P Score=669;Name=lod=696 NA 1q23.2 NA NA NA NA rs17380141 0.21 0.21 0.206 0.227037 0.2793 0.0843 0.219 0.2375 0.3119 0.26 0.12 0.23 0.21 0.2574 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201972 NA NA 0.292442 0.237404 ID=COSM146666;OCCURENCE=1(stomach) 0.268 NA 5.8375246 1068 21 38445069 38445069 T C UTR5 PIGP NM_153681:c.-182A>G NA NA UTR5 ENSG00000185808 ENST00000464265:c.-182A>G,ENST00000430792:c.-621A>G NA NA NA NA 21q22.13 NA Name=HA-E2F1,Pol2-4H8,E2F1,Ini1,Egr-1,ZBTB7A_(SC-34508),c-Myc,CCNT2,AP-2gamma,HEY1,HMGN3,TAF1,E2F6_(H-50),YY1_(C-20),E2F6,Pol2 Name=136 NA rs2298683 0.4 0.4 0.423 0.389177 0.496 0.381 0.3573 0.3351 0.3834 0.5 0.35 0.37 0.34 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.472846 1.472846 NA NA NA NA 0.29 NA 5.8373334 1068 19 885818 885818 A G exonic MED16 NA synonymous SNV MED16:NM_005481:exon5:c.T831C:p.F277F exonic ENSG00000175221 NA synonymous SNV ENSG00000175221:ENST00000589119:exon4:c.T831C:p.F277F,ENSG00000175221:ENST00000592943:exon4:c.T831C:p.F277F,ENSG00000175221:ENST00000269814:exon5:c.T831C:p.F277F,ENSG00000175221:ENST00000312090:exon5:c.T831C:p.F277F,ENSG00000175221:ENST00000325464:exon5:c.T831C:p.F277F,ENSG00000175221:ENST00000395808:exon5:c.T831C:p.F277F,ENSG00000175221:ENST00000606248:exon5:c.T831C:p.F277F Score=558;Name=lod=248 NA 19p13.3 Score=825;Name=V$E2F_01 NA NA NA rs1060442 0.62 0.62 0.67 0.621206 0.6133 0.6667 0.5259 0.6596 0.5982 0.61 0.66 0.52 0.67 0.6015 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.305499 1.305499 NA 0.614651 0.625284 NA 0.667 NA 5.8372156 1068 12 2907087 2907087 G A intronic FKBP4 NA NA NA ncRNA_intronic ENSG00000258092,ENSG00000258325 NA NA NA Score=358;Name=lod=38 NA 12p13.33 NA NA Name=26 NA rs41456246 0.09 0.09 0.077 0.0664936 0.1829 0.0337 0.0605 0.0113 0.0593 0.18 0.03 0.07 0.01 0.1366 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.557832 1.557832 NA 0.176628 0.034725 NA 0.051 NA 5.8372053 1068 15 80260014 80260014 T C exonic BCL2A1 NA synonymous SNV BCL2A1:NM_001114735:exon2:c.A441G:p.T147T exonic ENSG00000140379 NA synonymous SNV ENSG00000140379:ENST00000335661:exon2:c.A441G:p.T147T NA NA 15q25.1 NA NA Name=22 NA rs8026803 0.37 0.37 0.354 0.389377 0.2584 0.5288 0.2925 0.3956 0.4407 0.25 0.53 0.35 0.38 0.3141 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367349 NA NA 0.256979 0.365753 NA 0.37 NA 5.8371876 1068 17 45364619 45364619 A G intronic ITGB3 NA NA NA intronic ENSG00000259207,ENSG00000259753 NA NA NA NA NA 17q21.32 NA Name=IRF4_(M-17),YY1_(C-20),Rad21,EBF1_(C-8),CTCF,CTCF_(C-20) Name=6 NA rs13306478 0.04 0.04 0.028 0.0493211 0.0507 0.0446 0.0677 0.0408 0.0511 0.04 0.04 0.08 0.02 0.0537 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29164 NA NA 0.058488 0.041534 NA 0.007 NA 5.837112 1068 1 58971831 58971831 G A exonic OMA1 NA synonymous SNV OMA1:NM_145243:exon8:c.C1266T:p.F422F exonic ENSG00000162600 NA synonymous SNV ENSG00000162600:ENST00000358603:exon8:c.C1266T:p.F422F,ENSG00000162600:ENST00000371226:exon8:c.C1266T:p.F422F NA NA 1p32.2 NA NA NA NA rs3087585 0.26 0.26 0.298 0.254593 0.2922 0.0526 0.2075 0.4546 0.1871 0.29 0.06 0.23 0.46 0.2508 0.46 . . . . . . . . 0.882 P . . . . -0.921 T 0.000 T . -0.332 2.427 -0.049 -0.102 -0.221 1.675 -0.331726 NA NA 0.287093 0.403995 NA 0.312 NA 5.8365736 1068 17 80708601 80708601 C G exonic FN3K NA synonymous SNV FN3K:NM_022158:exon6:c.C900G:p.S300S exonic ENSG00000167363 NA synonymous SNV ENSG00000167363:ENST00000300784:exon6:c.C900G:p.S300S NA NA 17q25.3 NA Name=SETDB1 Name=13 NA rs1056534 0.64 0.64 0.635 0.655152 0.6014 0.6518 0.6686 0.68 0.6708 0.59 0.64 0.62 0.71 0.6226 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788904 NA NA 0.606279 0.642533 NA 0.565 NA 5.8363876 1068 4 26875266 26875266 A G intronic STIM2 NA NA NA ncRNA_intronic ENSG00000248340 NA NA NA NA NA 4p15.2 NA Name=PU.1 Name=11 NA rs6448485 0.63 0.63 0.64 0.65655 0.498 0.6925 0.5735 0.8654 0.5593 0.49 0.68 0.57 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.169753 NA NA NA NA NA 0.667 NA 5.8353333 1069 5 98199204 98199204 C T exonic CHD1 NA synonymous SNV CHD1:NM_001270:exon31:c.G4335A:p.E1445E exonic ENSG00000153922 NA synonymous SNV ENSG00000153922:ENST00000505657:exon2:c.G222A:p.E74E,ENSG00000153922:ENST00000284049:exon31:c.G4335A:p.E1445E Score=678;Name=lod=756 NA 5q15 NA NA NA NA rs161941 0.3 0.3 0.327 0.296326 0.2903 0.0427 0.2363 0.6082 0.1851 0.28 0.05 0.27 0.62 0.2545 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.808593 NA NA 0.28716 0.537466 NA 0.355 NA 5.8347066 1069 20 10277452 10277452 A C intronic SNAP25 NA NA NA ncRNA_intronic ENSG00000227906 NA NA NA Score=505;Name=lod=151 NA 20p12.2 Score=822;Name=V$CEBP_C NA NA NA rs362987 0.47 0.47 0.469 0.446086 0.499 0.2669 0.4914 0.5613 0.3885 0.51 0.3 0.49 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.362217 3.362217 NA NA NA NA 0.543 NA 5.8343333 1069 15 78466127 78466127 T C exonic ACSBG1 NA nonsynonymous SNV ACSBG1:NM_001199377:exon13:c.A1885G:p.M629V,ACSBG1:NM_015162:exon13:c.A1897G:p.M633V exonic ENSG00000103740 NA nonsynonymous SNV ENSG00000103740:ENST00000541759:exon9:c.A1171G:p.M391V,ENSG00000103740:ENST00000560817:exon9:c.A1171G:p.M391V,ENSG00000103740:ENST00000258873:exon13:c.A1897G:p.M633V NA NA 15q25.1 NA NA NA NA rs2304824 0.49 0.49 0.514 0.526757 0.498 0.2867 0.4409 0.73 0.59 0.49 0.29 0.48 0.73 0.5024 0.73 0.63 T 0.0 B 0.0 B 0.115 N 1.000 P -1.355 N 1.71 T -0.986 T 0.000 T 0.04 -0.485 1.769 -0.040 0.105 -0.598 0.144 -0.484813 NA 0.75 0.499534 0.687842 NA 0.558 NA 5.8333994 1069 1 152733301 152733301 T A exonic KPRP NA nonsynonymous SNV KPRP:NM_001025231:exon2:c.T1237A:p.C413S exonic ENSG00000203786 NA nonsynonymous SNV ENSG00000203786:ENST00000606109:exon1:c.T1237A:p.C413S,ENSG00000203786:ENST00000368773:exon2:c.T1237A:p.C413S NA NA 1q21.3 NA NA NA NA rs4329520 0.51 0.51 0.51 0.490216 0.5159 0.4177 0.4914 0.5787 0.4182 0.5 0.43 0.54 0.6 0.4814 0.6 0.72 T 0.017 B 0.013 B 0.025 N 1.000 P 1.65 L 1.83 T -0.968 T 0.012 T 0.033 2.221 13.38 -0.312 -0.142 -0.196 0.340 2.220864 2.220864 0.1 0.502674 0.553563 NA 0.464 NA 5.8333594 1069 7 5399044 5399044 C G exonic TNRC18 NA synonymous SNV TNRC18:NM_001080495:exon15:c.G4818C:p.S1606S exonic ENSG00000182095 NA synonymous SNV ENSG00000182095:ENST00000440081:exon2:c.G288C:p.S96S,ENSG00000182095:ENST00000399537:exon15:c.G4818C:p.S1606S,ENSG00000182095:ENST00000430969:exon15:c.G4818C:p.S1606S NA NA 7p22.1 Score=751;Name=V$TCF11MAFG_01 NA NA NA rs12531309 0.27 0.27 0.245 0.255192 0.2594 0.2808 0.2536 0.2489 0.2342 0.28 0.26 0.28 0.25 0.2843 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022262 NA NA 0.289866 0.248988 NA 0.217 NA 5.8331006 1069 6 26044369 26044369 A G upstream HIST1H2BB NA NA NA ncRNA_exonic ENSG00000234816 NA NA NA Score=701;Name=lod=944 NA 6p22.2 NA Name=TCF12,PAX5-N19,PAX5-C20,NFKB,HEY1,Pol2-4H8,Pol2,ZBTB33,TAF1,Pol2(b) Name=34 NA rs2032447 0.7 0.7 0.596 0.689097 0.6531 0.8423 0.6859 0.6543 0.6176 0.64 0.87 0.67 0.64 0.681 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336391 NA NA NA NA NA 0.623 NA 5.8325666 1069 11 1213440 1213440 T C intergenic MUC2,MUC5B dist=109023;dist=30855 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=51079;dist=30856 NA NA Score=415;Name=lod=65 NA 11p15.5 Score=866;Name=V$RORA2_01 NA Name=35 NA rs61867533 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5008 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.343246 2.343246 NA NA NA NA 0.007 NA 5.8325334 1069 15 78200697 78200697 A G intergenic LOC253044,LOC645752 dist=259116;dist=5862 NA NA intergenic ENSG00000260139,ENSG00000260776 dist=3681;dist=5862 NA NA Score=574;Name=lod=287 NA 15q24.3 NA Name=SMC3_(ab9263),CTCFL_(SC-98982),CTCF,ZNF263,CTCF_(SC-5916),PAX5-C20,CTCF_(C-20),c-Myc Name=103 NA rs12909639 0.33 0.33 0.285 0.295727 0.501 0.1667 0.2896 0.267 0.2607 0.49 0.18 0.33 0.26 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.195509 NA NA NA NA NA 0.449 NA 5.8323334 1069 17 16733874 16733874 G A ncRNA_exonic KRT16P2 NA NA NA ncRNA_exonic ENSG00000227300 NA NA NA Score=425;Name=lod=71 NA 17p11.2 Score=817;Name=V$AP4_01 NA NA NA rs2608256 0.82 0.82 0.861 0.854034 0.835 0.9345 0.8429 0.857 0.7945 0.8 0.86 0.83 0.78 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304783 NA NA NA NA NA 0.101 NA 5.8316666 1069 5 95234392 95234392 A C exonic ELL2 NA synonymous SNV ELL2:NM_012081:exon8:c.T1077G:p.S359S exonic ENSG00000118985 NA synonymous SNV ENSG00000118985:ENST00000237853:exon8:c.T1077G:p.S359S Score=638;Name=lod=524 NA 5q15 NA NA NA NA rs3777202 0.37 0.37 0.323 0.385383 0.2803 0.4325 0.2464 0.5318 0.3456 0.29 0.43 0.24 0.52 0.2954 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897819 NA NA 0.259772 0.481364 NA 0.42 NA 5.8311946 1069 20 33063830 33063830 A C intronic ITCH NA NA NA ncRNA_exonic ENSG00000181741 NA NA NA Score=519;Name=lod=172 NA 20q11.22 NA NA Name=65 NA rs6059860 0.42 0.42 0.42 0.393371 0.503 0.4048 0.3069 0.3427 0.3988 0.53 0.41 0.37 0.3 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761813 NA NA NA NA NA 0.413 NA 5.8303333 1069 7 145281594 145281594 C T intergenic TPK1,CNTNAP2 dist=748448;dist=531859 NA NA ncRNA_exonic ENSG00000231839 NA NA NA Score=608;Name=lod=395 NA 7q35 NA NA Name=7 NA rs13226596 0.16 0.16 0.161 0.172125 0.17 0.0506 0.1499 0.2564 0.2014 0.17 0.06 0.16 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346059 NA NA NA NA NA 0.174 NA 5.83 1069 19 19626734 19626734 A G upstream NDUFA13,TSSK6 NA NA NA UTR5 ENSG00000178093,ENSG00000186010 ENST00000360913:c.-498T>C;ENST00000502506:c.-314A>G,ENST00000507754:c.-314A>G NA NA NA NA 19p13.11 NA Name=KAP1,HA-E2F1,CTCF Name=18 NA rs80007081 0.12 0.12 0.119 0.11901 0.17 NA 0.1167 0.1634 0.1309 0.15 NA 0.14 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425805 NA NA NA NA NA 0.109 NA 5.83 1069 19 49362001 49362001 T A intronic PLEKHA4 NA NA NA intronic ENSG00000105559 NA NA NA NA NA 19q13.33 NA Name=SIX5,c-Myc,IRF1,ELF1_(SC-631),BAF170,Znf143_(16618-1-AP),ETS1,YY1_(C-20) Name=32 NA rs17206714 0.07 0.07 0.06 0.0561102 0.17 NA 0.0677 0.0045 0.0583 0.17 NA 0.07 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440012 NA NA NA NA NA 0.109 NA 5.83 1069 20 48746189 48746189 C T exonic TMEM189,TMEM189-UBE2V1 NA synonymous SNV TMEM189:NM_001162505:exon4:c.G363A:p.P121P,TMEM189:NM_199129:exon4:c.G372A:p.P124P,TMEM189-UBE2V1:NM_199203:exon4:c.G372A:p.P124P exonic ENSG00000124208,ENSG00000240849 NA synonymous SNV ENSG00000240849:ENST00000371656:exon3:c.G147A:p.P49P,ENSG00000124208:ENST00000341698:exon4:c.G372A:p.P124P,ENSG00000240849:ENST00000371650:exon4:c.G363A:p.P121P,ENSG00000240849:ENST00000371652:exon4:c.G372A:p.P124P,ENSG00000240849:ENST00000557021:exon4:c.G372A:p.P124P NA NA 20q13.13 NA Name=c-Myc NA NA rs6122878 0.3 0.3 0.307 0.287141 0.2863 0.25 0.255 0.3238 0.2996 0.3 0.25 0.28 0.36 0.2789 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.357528 1.357528 NA 0.271628 0.302996 NA 0.181 NA 5.8298386 1069 19 50363175 50363175 A G intronic PTOV1 NA NA NA ncRNA_exonic ENSG00000267896 NA NA NA NA NA 19q13.33 NA Name=Pol2,Pol2-4H8 Name=9 NA rs1290646 0.58 0.58 0.606 0.635383 0.504 0.5298 0.4971 0.8646 0.6677 0.5 0.52 0.5 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103892 NA NA NA NA NA 0.406 NA 5.8293333 1069 4 38937372 38937372 T C exonic FAM114A1 NA synonymous SNV FAM114A1:NM_138389:exon13:c.T1497C:p.S499S exonic ENSG00000197712 NA synonymous SNV ENSG00000197712:ENST00000515037:exon11:c.T876C:p.S292S,ENSG00000197712:ENST00000358869:exon13:c.T1497C:p.S499S Score=558;Name=lod=248 NA 4p14 NA Name=CTCF NA NA rs2271031 0.69 0.69 0.701 0.724441 0.5855 0.6905 0.6931 0.8888 0.7025 0.56 0.69 0.65 0.89 0.6564 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773911 NA NA 0.595698 0.840599 NA 0.775 NA 5.8290686 1069 2 113498566 113498566 A G exonic CKAP2L NA nonsynonymous SNV CKAP2L:NM_152515:exon8:c.T1841C:p.L614S exonic ENSG00000169607 NA nonsynonymous SNV ENSG00000169607:ENST00000302450:exon8:c.T1841C:p.L614S,ENSG00000169607:ENST00000541405:exon8:c.T1346C:p.L449S NA NA 2q13 NA NA NA NA rs3811040 0.46 0.46 0.423 0.422524 0.508 0.6895 0.5519 0.056 0.4632 0.5 0.7 0.54 0.06 0.4926 0.7 0.73 T 0.035 B 0.034 B 0.145 N 1.000 P 0 N 2.06 T -0.976 T 0.000 T 0.076 -1.597 0.014 -0.529 -0.079 -0.101 7.213 -1.59717 NA 0.75 0.504419 0.125057 NA 0.435 NA 5.8283144 1069 1 186113852 186113852 G C ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA Score=579;Name=lod=301 NA 1q31.1 NA NA Name=17 NA rs17531405 0.1 0.1 0.083 0.0676917 0.1869 0.0149 0.0994 0.0076 0.0583 0.19 0.02 0.14 0.01 0.1354 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.13867 3.13867 NA 0.183023 0.039492 NA 0.094 NA 5.8280103 1069 12 11338613 11338613 C G exonic TAS2R42 NA nonsynonymous SNV TAS2R42:NM_181429:exon1:c.G931C:p.A311P exonic ENSG00000186136 NA nonsynonymous SNV ENSG00000186136:ENST00000334266:exon1:c.G931C:p.A311P NA NA 12p13.2 NA NA NA NA rs1650017 0.67 0.67 0.758 0.760783 0.8688 0.9514 0.8473 0.407 0.8701 0.73 0.86 0.74 0.31 0.8372 0.86 1 T 0.0 B 0.0 B 0.393 N 1.000 P 0 N 5.57 T -1.007 T 0.000 T 0.033 -1.941 0.007 -1.72 -0.746 -2.849 0.475 -1.940645 NA 1 0.8 0.394235 NA NA NA 5.8273334 1069 12 6562836 6562836 G A exonic TAPBPL NA synonymous SNV TAPBPL:NM_018009:exon3:c.G519A:p.P173P exonic ENSG00000139192 NA synonymous SNV ENSG00000139192:ENST00000544021:exon2:c.G288A:p.P96P,ENSG00000139192:ENST00000266556:exon3:c.G519A:p.P173P NA NA 12p13.31 Score=787;Name=V$ROAZ_01 NA NA NA rs2041388 0.22 0.22 0.197 0.202875 0.2932 0.3224 0.1599 0.0136 0.273 0.29 0.33 0.16 0.01 0.2563 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.37945 NA NA 0.290581 0.056514 NA 0.138 NA 5.8265856 1069 6 33643558 33643558 G A exonic ITPR3 NA synonymous SNV ITPR3:NM_002224:exon25:c.G3207A:p.P1069P exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon25:c.G3207A:p.P1069P,ENSG00000096433:ENST00000374316:exon26:c.G3207A:p.P1069P NA NA 6p21.31 Score=754;Name=V$MYOGNF1_01 NA NA NA rs2229637 0.2 0.2 0.193 0.177716 0.2843 0.0704 0.245 0.1906 0.1135 0.27 0.09 0.22 0.18 0.2709 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696059 NA NA 0.285 0.195642 ID=COSM451318,COSM1487676;OCCURENCE=1(breast) 0.203 NA 5.8264666 1069 8 144688736 144688736 C G exonic PYCRL NA nonsynonymous SNV PYCRL:NM_023078:exon4:c.G486C:p.K162N exonic ENSG00000104524 NA nonsynonymous SNV ENSG00000104524:ENST00000220966:exon4:c.G486C:p.K162N,ENSG00000104524:ENST00000433751:exon4:c.G411C:p.K137N,ENSG00000104524:ENST00000377579:exon5:c.G39C:p.K13N NA NA 8q24.3 NA NA NA NA rs2242090 0.38 0.38 0.336 0.327077 0.5239 0.3879 0.3977 0.0809 0.3446 0.52 0.35 0.48 0.11 0.4443 0.54 0.17 T . . . . 0.467 N 1.000 P . . -0.07 T -0.961 T 0.000 T 0.016 0.813 8.27 0.47 0.166 -0.340 1.679 0.813088 NA 0.17 0.53873 0.137148 ID=COSM454155;OCCURENCE=2(breast) 0.268 NA 5.8264034 1069 10 129216658 129216658 T C exonic DOCK1 NA synonymous SNV DOCK1:NM_001380:exon45:c.T4482C:p.I1494I exonic ENSG00000150760 NA synonymous SNV ENSG00000150760:ENST00000280333:exon45:c.T4482C:p.I1494I NA NA 10q26.2 Score=863;Name=V$OCT1_06 NA NA NA rs2229600 0.33 0.33 0.313 0.31889 0.2575 0.4296 0.4222 0.2247 0.3221 0.26 0.44 0.38 0.26 0.3232 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927589 NA NA 0.259656 0.240648 NA 0.232 NA 5.8263106 1069 17 79804721 79804721 A G intronic P4HB NA NA NA intronic ENSG00000185624 NA NA NA NA NA 17q25.3 NA Name=c-Myc Name=9 NA rs2070872 0.3 0.3 0.299 0.265775 0.174 0.2867 0.3199 0.4085 0.1074 0.18 0.34 0.28 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614074 NA NA NA NA NA 0.268 NA 5.826 1069 10 100167396 100167396 G A exonic PYROXD2 NA synonymous SNV PYROXD2:NM_032709:exon4:c.C258T:p.R86R exonic ENSG00000119943 NA synonymous SNV ENSG00000119943:ENST00000370575:exon4:c.C258T:p.R86R Score=550;Name=lod=230 NA 10q24.2 NA NA NA NA rs12763326 0.37 0.37 0.343 0.417732 0.2376 0.4395 0.3775 0.5053 0.4908 0.23 0.46 0.36 0.51 0.3377 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06429 NA NA 0.26593 0.473445 NA 0.304 NA 5.8254366 1069 7 808835 808835 G A intronic HEATR2 NA NA NA exonic ENSG00000164818 NA synonymous SNV ENSG00000164818:ENST00000403952:exon1:c.G51A:p.T17T NA NA 7p22.3 NA NA Name=40 NA rs140560123 0.01 0.01 0.008 0.00519169 0.003 NA 0.0014 0.0098 0.0092 0.004 NA NA 0.02 0.0042 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247004 NA NA 0.000754 0.007991 NA 0.014 NA 5.8253793 1069 4 140811084 140811084 C T exonic MAML3 NA synonymous SNV MAML3:NM_018717:exon2:c.G1506A:p.Q502Q exonic ENSG00000196782 NA synonymous SNV ENSG00000196782:ENST00000327122:exon1:c.G1038A:p.Q346Q,ENSG00000196782:ENST00000509479:exon2:c.G1506A:p.Q502Q Score=565;Name=lod=263 NA 4q31.1 NA NA NA NA rs12506879 0.58 0.58 0.553 0.422524 0.501 0.4177 0.4481 0.3283 0.456 0.72 0.56 0.6 0.39 0.3406 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252572 NA NA NA NA NA 0.007 NA 5.8250666 1069 4 1725071 1725071 A G intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA Name=PAX5-C20,EBF1_(C-8),TCF12,YY1_(C-20),Pol2 Name=19 NA rs1665361 0.13 0.13 0.121 0.139377 0.175 0.0119 0.1239 0.2027 0.1595 0.17 0.01 0.13 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223847 NA NA NA NA NA 0.058 NA 5.825 1069 19 10666112 10666112 G A intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA Name=ZNF263,CTCF Name=9 NA rs12459941 0.37 0.37 0.34 0.352037 0.175 0.6984 0.4841 0.1891 0.3037 0.17 0.73 0.43 0.2 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135523 NA NA NA NA NA 0.246 NA 5.825 1070 1 181725110 181725110 T C exonic CACNA1E NA synonymous SNV CACNA1E:NM_001205294:exon28:c.T3951C:p.H1317H,CACNA1E:NM_000721:exon29:c.T4008C:p.H1336H,CACNA1E:NM_001205293:exon29:c.T4008C:p.H1336H exonic ENSG00000198216 NA synonymous SNV ENSG00000198216:ENST00000358338:exon28:c.T3804C:p.H1268H,ENSG00000198216:ENST00000360108:exon28:c.T3951C:p.H1317H,ENSG00000198216:ENST00000526775:exon28:c.T3951C:p.H1317H,ENSG00000198216:ENST00000357570:exon29:c.T3861C:p.H1287H,ENSG00000198216:ENST00000367567:exon29:c.T2829C:p.H943H,ENSG00000198216:ENST00000367570:exon29:c.T4008C:p.H1336H,ENSG00000198216:ENST00000367573:exon29:c.T4008C:p.H1336H Score=638;Name=lod=522 NA 1q25.3 NA NA NA NA rs4652678 0.27 0.27 0.265 0.318291 0.2863 0.0754 0.3256 0.4856 0.3701 0.28 0.06 0.28 0.48 0.2845 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031244 NA NA 0.270924 0.419279 NA 0.29 NA 5.8249426 1070 18 63489378 63489378 C T exonic CDH7 NA synonymous SNV CDH7:NM_004361:exon5:c.C687T:p.V229V,CDH7:NM_033646:exon5:c.C687T:p.V229V exonic ENSG00000081138 NA synonymous SNV ENSG00000081138:ENST00000323011:exon5:c.C687T:p.V229V,ENSG00000081138:ENST00000397968:exon5:c.C687T:p.V229V,ENSG00000081138:ENST00000536984:exon5:c.C687T:p.V229V Score=675;Name=lod=740 NA 18q22.1 Score=928;Name=V$TCF11_01 NA Name=3 NA rs8097752 0.9 0.9 0.879 0.852835 0.9612 0.9831 0.9049 0.646 0.8497 0.96 0.99 0.93 0.65 0.9245 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.030764 NA NA 0.956395 0.674308 NA 0.877 NA 5.8245716 1070 1 205030862 205030862 C T intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA Name=CTCFL_(SC-98982),Znf143_(16618-1-AP),YY1_(C-20),NANOG_(SC-33759),SMC3_(ab9263),CTCF_(SC-5916),CTCF_(C-20),ELF1_(SC-631),Rad21,EBF1_(C-8),CTCF Name=138 NA rs41264869 0.23 0.23 0.2 0.23123 0.1759 0.3948 0.2622 0.0938 0.2832 0.18 0.41 0.27 0.09 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142968 NA NA NA NA NA 0.145 NA 5.8241 1070 6 30569489 30569489 C T intronic PPP1R10 NA NA NA intronic ENSG00000204569 NA NA NA NA NA 6p21.33 NA Name=Pol2 Name=9 NA rs7759666 0.11 0.11 0.093 0.109225 0.1759 0.0605 0.1527 0.0091 0.1953 0.18 0.08 0.14 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.542431 1.542431 NA NA NA NA 0.094 NA 5.8241 1070 7 99964661 99964661 A G intronic PILRB NA NA NA intronic ENSG00000121716 NA NA NA NA NA 7q22.1 NA Name=Pol2-4H8,EBF,SP1,Pol2 Name=21 NA rs11769057 0.1 0.1 0.102 0.105032 0.1759 0.0278 0.1023 0.1074 0.1104 0.18 0.02 0.1 0.09 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300259 NA NA NA NA NA 0.138 NA 5.8241 1070 7 99964789 99964789 T G intronic PILRB NA NA NA intronic ENSG00000121716 NA NA NA NA NA 7q22.1 NA Name=ZEB1_(SC-25388),EBF,Pol2 Name=21 NA rs11765869 0.09 0.09 0.073 0.081869 0.1759 0.0278 0.0937 0.0234 0.1115 0.18 0.02 0.09 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581521 NA NA NA NA NA 0.094 NA 5.8241 1070 11 8720615 8720615 C A intronic ST5 NA NA NA intronic ENSG00000166444 NA NA NA NA NA 11p15.4 NA Name=TCF12 Name=3 NA rs2270958 0.19 0.19 0.178 0.177716 0.1759 0.247 0.17 0.0976 0.2219 0.19 0.24 0.21 0.1 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.693052 1.693052 NA NA NA NA 0.181 NA 5.8241 1070 4 36069805 36069805 G A exonic ARAP2 NA synonymous SNV ARAP2:NM_015230:exon33:c.C4839T:p.A1613A exonic ENSG00000047365 NA synonymous SNV ENSG00000047365:ENST00000303965:exon33:c.C4839T:p.A1613A Score=313;Name=lod=25 NA 4p14 NA NA NA NA rs7657166 0.15 0.15 0.149 0.155351 0.2803 0.0913 0.2061 0.0204 0.2393 0.26 0.08 0.21 0.03 0.2409 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363273 NA NA 0.321512 0.071266 NA 0.232 NA 5.8239546 1070 7 34125420 34125420 G T exonic BMPER NA synonymous SNV BMPER:NM_133468:exon14:c.G1461T:p.P487P exonic ENSG00000164619 NA synonymous SNV ENSG00000164619:ENST00000426693:exon13:c.G1461T:p.P487P,ENSG00000164619:ENST00000297161:exon14:c.G1461T:p.P487P NA NA 7p14.3 Score=830;Name=V$PAX4_01 NA NA NA rs77064045 0.2 0.2 0.211 0.189297 0.3141 0.1002 0.2089 0.1573 0.182 0.3 0.1 0.23 0.14 0.2434 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868596 NA NA 0.285581 0.172492 NA 0.268 NA 5.8235856 1070 17 73519413 73519413 C T exonic TSEN54 NA nonsynonymous SNV TSEN54:NM_207346:exon9:c.C1310T:p.A437V exonic ENSG00000182173 NA nonsynonymous SNV ENSG00000182173:ENST00000333213:exon9:c.C1310T:p.A437V NA NA 17q25.1 NA NA NA NA rs8064529 0.56 0.56 0.579 0.561302 0.6839 0.4415 0.4597 0.5514 0.6442 0.7 0.46 0.48 0.53 0.6241 0.7 0.32 T 0.698 P 0.118 B 0.183 N 1.000 P 1.7 L -0.1 T -0.921 T 0.000 T 0.02 1.206 9.897 0.513 0.259 0.335 5.748 1.205751 NA 0.49 0.70186 0.580345 NA 0.514 NA 5.8234734 1070 1 16321240 16321240 G A intergenic ZBTB17,C1orf64 dist=18613;dist=9491 NA NA ncRNA_exonic ENSG00000224966 NA NA NA NA NA 1p36.13 NA Name=YY1_(C-20),SMC3_(ab9263),CTCF,CTCF_(SC-5916),CTCF_(C-20),PAX5-C20,FOXA1_(C-20),Znf143_(16618-1-AP),FOXA2_(SC-6554),FOXA1_(SC-101058),Rad21 Name=137 NA rs4661680 0.11 0.11 0.081 0.114018 0.1769 0.0089 0.2968 0.0098 0.1687 0.17 0.01 0.25 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791055 NA NA NA NA NA 0.058 NA 5.8231 1070 19 35450229 35450229 C T exonic ZNF792 NA nonsynonymous SNV ZNF792:NM_175872:exon4:c.G530A:p.R177Q exonic ENSG00000180884 NA nonsynonymous SNV ENSG00000180884:ENST00000605484:exon2:c.G329A:p.R110Q,ENSG00000180884:ENST00000404801:exon4:c.G530A:p.R177Q NA NA 19q13.11 NA NA NA NA rs2651079 0.62 0.62 0.664 0.626198 0.5149 0.5942 0.3991 0.9123 0.5481 0.51 0.62 0.46 0.92 0.5224 0.92 1 T 0.0 B 0.0 B . . 1.000 P -0.87 N 3.54 T -1.018 T 0.000 T 0.059 -1.135 0.114 -0.202 -0.420 -0.565 2.958 -1.134845 NA 1 0.473023 0.83182 NA 0.623 NA 5.8230104 1070 2 130951566 130951566 G A exonic TUBA3E NA synonymous SNV TUBA3E:NM_207312:exon4:c.C849T:p.H283H exonic ENSG00000152086 NA synonymous SNV ENSG00000152086:ENST00000312988:exon4:c.C849T:p.H283H Score=505;Name=lod=150 NA 2q21.1 NA NA NA NA rs7340193 0.78 0.78 0.87 NA NA NA NA NA NA 0.78 0.9 0.79 0.61 0.844 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630717 NA NA NA NA NA 0.754 NA 5.8226666 1070 1 43909265 43909265 T C intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA Score=463;Name=lod=102 NA 1p34.2 Score=787;Name=V$PAX5_01 Name=Pol2(phosphoS2) NA NA rs2255632 0.29 0.29 0.268 0.221046 0.4254 0.1329 0.3948 0.1233 0.1104 0.43 0.15 0.43 0.14 0.331 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239807 NA NA 0.421977 0.153881 NA 0.377 NA 5.821623 1070 11 64010085 64010085 A G intronic FKBP2 NA NA NA intronic ENSG00000173486 NA NA NA NA NA 11q13.1 NA Name=Pol2(phosphoS2),Pol2,E2F6_(H-50),HEY1,Pol2-4H8,HDAC2_(SC-6296) Name=72 NA rs2070765 0.17 0.17 0.152 0.15635 0.1789 0.1865 0.3199 0.0915 0.0736 0.18 0.18 0.28 0.08 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63239 NA NA NA NA NA 0.116 NA 5.8211 1070 3 53220215 53220215 G A exonic PRKCD NA synonymous SNV PRKCD:NM_212539:exon12:c.G1119A:p.E373E,PRKCD:NM_006254:exon13:c.G1119A:p.E373E exonic ENSG00000163932 NA synonymous SNV ENSG00000163932:ENST00000394729:exon12:c.G1119A:p.E373E,ENSG00000163932:ENST00000330452:exon13:c.G1119A:p.E373E Score=401;Name=lod=57 NA 3p21.1 NA NA NA NA rs2230494 0.29 0.29 0.269 0.282149 0.2863 0.2202 0.2925 0.3411 0.2546 0.29 0.22 0.3 0.35 0.2757 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722947 NA NA 0.283953 0.321607 ID=COSM1179808,COSM1179809;OCCURENCE=1(prostate) 0.232 NA 5.8207136 1070 21 45784271 45784271 G A intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA Name=CTCF,Rad21,CTCF_(SC-5916) Name=7 NA rs2276252 0.13 0.13 0.116 0.120607 0.1799 0.129 0.1441 0.0477 0.1329 0.18 0.13 0.15 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140215 NA NA NA NA NA 0.13 NA 5.8201 1070 5 180043388 180043388 G A exonic FLT4 NA synonymous SNV FLT4:NM_002020:exon23:c.C3198T:p.P1066P,FLT4:NM_182925:exon23:c.C3198T:p.P1066P exonic ENSG00000037280 NA synonymous SNV ENSG00000037280:ENST00000512795:exon4:c.C312T:p.P104P,ENSG00000037280:ENST00000261937:exon23:c.C3198T:p.P1066P,ENSG00000037280:ENST00000393347:exon23:c.C3198T:p.P1066P,ENSG00000037280:ENST00000502649:exon23:c.C3198T:p.P1066P Score=673;Name=lod=723 NA 5q35.3 NA NA NA NA rs1130378 0.23 0.23 0.224 0.240415 0.2823 0.2619 0.1888 0.1566 0.3252 0.27 0.27 0.25 0.12 0.27 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848358 NA NA 0.294884 0.169995 NA 0.203 NA 5.8194826 1070 X 295132 295132 T C exonic PPP2R3B NA synonymous SNV PPP2R3B:NM_013239:exon13:c.A1698G:p.A566A exonic ENSG00000167393 NA synonymous SNV ENSG00000167393:ENST00000390665:exon13:c.A1698G:p.A566A Score=300;Name=lod=22 NA Xp22.33 NA NA NA NA rs1133530 0.52 0.52 0.55087 NA NA NA NA NA NA 0.41 0.48 0.43 0.81 0.4386 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258803 NA NA 0.408644 0.775402 NA 0.457 NA 5.8194226 1070 2 75115108 75115108 A G exonic HK2 NA synonymous SNV HK2:NM_000189:exon16:c.A2298G:p.L766L exonic ENSG00000159399 NA synonymous SNV ENSG00000159399:ENST00000290573:exon16:c.A2298G:p.L766L,ENSG00000159399:ENST00000409174:exon16:c.A2214G:p.L738L Score=645;Name=lod=557 NA 2p12 NA Name=c-Fos NA NA rs10194657 0.55 0.55 0.557 0.524161 0.6282 0.4821 0.4654 0.4236 0.638 0.63 0.51 0.52 0.48 0.5907 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343879 1.343879 NA 0.628372 0.460735 ID=COSM148879;OCCURENCE=1(stomach) 0.536 NA 5.8193946 1070 7 128243651 128243651 A G intergenic METTL2B,FLJ45340 dist=100673;dist=37644 NA NA ncRNA_intronic ENSG00000242588 NA NA NA Score=480;Name=lod=119 NA 7q32.1 Score=899;Name=V$HAND1E47_01 NA NA NA rs28526579 0.15 0.15 0.139 0.130591 0.1809 0.0526 0.1484 0.1899 0.0665 0.18 0.05 0.18 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165936 NA NA NA NA NA 0.13 NA 5.8191 1070 5 138266546 138266546 G A exonic CTNNA1 NA synonymous SNV CTNNA1:NM_001903:exon16:c.G2220A:p.S740S exonic ENSG00000044115 NA synonymous SNV ENSG00000044115:ENST00000520520:exon2:c.G45A:p.S15S,ENSG00000044115:ENST00000540387:exon10:c.G1110A:p.S370S,ENSG00000044115:ENST00000355078:exon15:c.G1911A:p.S637S,ENSG00000044115:ENST00000518825:exon15:c.G2220A:p.S740S,ENSG00000044115:ENST00000302763:exon16:c.G2220A:p.S740S Score=603;Name=lod=376 NA 5q31.2 NA NA NA NA rs1059110 0.25 0.25 0.257 0.249002 0.2714 0.0079 0.2695 0.4259 0.2209 0.27 0.01 0.29 0.45 0.2796 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.319869 1.319869 NA 0.297326 0.407853 NA 0.29 NA 5.8183406 1070 20 3677736 3677736 T G exonic SIGLEC1 NA synonymous SNV SIGLEC1:NM_023068:exon9:c.A2376C:p.V792V exonic ENSG00000088827 NA synonymous SNV ENSG00000088827:ENST00000202578:exon9:c.A2376C:p.V792V,ENSG00000088827:ENST00000344754:exon9:c.A2376C:p.V792V Score=346;Name=lod=34 NA 20p13 Score=833;Name=V$GR_Q6 NA NA NA rs673114 0.69 0.69 0.665 0.717652 0.5805 0.7708 0.6729 0.826 0.6892 0.59 0.74 0.65 0.8 0.6631 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308966 NA NA 0.605233 0.77475 NA 0.493 NA 5.8178336 1070 7 24854765 24854765 G A exonic OSBPL3 NA synonymous SNV OSBPL3:NM_145322:exon17:c.C1884T:p.S628S,OSBPL3:NM_145320:exon18:c.C1992T:p.S664S,OSBPL3:NM_145321:exon18:c.C1977T:p.S659S,OSBPL3:NM_015550:exon19:c.C2085T:p.S695S exonic ENSG00000070882 NA synonymous SNV ENSG00000070882:ENST00000409069:exon16:c.C1884T:p.S628S,ENSG00000070882:ENST00000396429:exon17:c.C1977T:p.S659S,ENSG00000070882:ENST00000396431:exon17:c.C1992T:p.S664S,ENSG00000070882:ENST00000431825:exon17:c.C1884T:p.S628S,ENSG00000070882:ENST00000352860:exon18:c.C1992T:p.S664S,ENSG00000070882:ENST00000353930:exon18:c.C1977T:p.S659S,ENSG00000070882:ENST00000313367:exon19:c.C2085T:p.S695S Score=595;Name=lod=349 NA 7p15.3 NA NA NA NA rs1044956 0.37 0.37 0.334 0.383387 0.2475 0.7371 0.3646 0.1051 0.5481 0.24 0.74 0.39 0.11 0.3476 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998288 NA NA 0.253953 0.142079 NA 0.319 NA 5.8176136 1070 12 111926255 111926255 T G intronic ATXN2 NA NA NA intronic ENSG00000204842 NA NA NA NA NA 12q24.12 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),RXRA,FOXA1_(C-20) Name=59 NA rs78209549 0.04 0.04 0.033 0.0297524 0.0606 NA 0.062 0.0144 0.0266 0.06 NA 0.08 0.02 0.0527 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.831266 1.831266 NA 0.069186 0.022242 NA 0.058 NA 5.817514 1070 19 12076060 12076060 G C intronic ZNF763 NA NA NA intronic ENSG00000197054,ENSG00000267179 NA NA NA NA NA 19p13.2 NA Name=Pol2,TAF7_(SQ-8) Name=130 NA rs7250805 0.11 0.11 0.118 0.131589 0.0606 0.0278 0.0533 0.3555 0.0644 0.05 0.04 0.06 0.34 0.0744 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172454 NA NA 0.048953 0.30881 NA 0.152 NA 5.816047 1070 2 120438523 120438523 A G exonic TMEM177 NA nonsynonymous SNV TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V exonic ENSG00000144120 NA nonsynonymous SNV ENSG00000144120:ENST00000272521:exon2:c.A94G:p.I32V,ENSG00000144120:ENST00000401466:exon2:c.A94G:p.I32V,ENSG00000144120:ENST00000409951:exon2:c.A94G:p.I32V,ENSG00000144120:ENST00000424086:exon2:c.A94G:p.I32V,ENSG00000144120:ENST00000445518:exon2:c.A94G:p.I32V Score=412;Name=lod=63 NA 2q14.2 NA NA NA NA rs13011768 0.78 0.78 0.738 0.778155 0.8439 0.8284 0.8285 0.6029 0.8599 0.85 0.81 0.8 0.61 0.83 0.85 0.58 T 0.001 B 0.002 B 0.099 N 0.908 P 0.95 L 2.3 T -1.035 T 0.000 T 0.047 -0.787 0.712 1.37 0.283 0.070 6.110 -0.786875 NA 0.54 0.844186 0.629596 NA 0.819 NA 5.8152474 1070 19 47588325 47588325 G A exonic ZC3H4 NA synonymous SNV ZC3H4:NM_015168:exon8:c.C1095T:p.D365D exonic ENSG00000130749 NA synonymous SNV ENSG00000130749:ENST00000253048:exon8:c.C1095T:p.D365D Score=272;Name=lod=17 NA 19q13.32 NA NA NA NA rs2287842 0.22 0.22 0.211 0.208267 0.2972 0.2579 0.2882 0.0492 0.2239 0.3 0.24 0.27 0.04 0.2688 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444665 NA NA 0.285427 0.091655 NA 0.181 NA 5.8152396 1070 6 57512529 57512529 C A exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*316C>A NA NA Score=429;Name=lod=74 NA 6p11.2 Score=756;Name=V$MEF2_04 NA NA NA rs5001076 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4992 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.491392 2.491392 0.01 0.352248 0.370818 NA 0.159 NA 5.8152187 1071 6 29274486 29274486 T C exonic OR14J1 NA nonsynonymous SNV OR14J1:NM_030946:exon1:c.T20C:p.M7T exonic ENSG00000204695 NA nonsynonymous SNV ENSG00000204695:ENST00000377160:exon1:c.T20C:p.M7T NA NA 6p22.1 NA NA NA NA rs9257694 0.4 0.4 0.395 0.36901 0.5288 0.3244 0.4251 0.2519 0.3691 0.55 0.31 0.44 0.25 0.4733 0.55 0.08 T 0.001 B 0.002 B 0.598 N 1.000 P 0.59 N 8.11 T -1.003 T 0.000 T 0.035 0.906 8.684 -0.996 -0.232 -0.478 1.716 0.90573 NA 0.08 0.516242 0.327598 NA 0.319 NA 5.8149914 1071 14 107012994 107012994 A G intergenic LINC00221,NONE dist=61465;dist=NONE NA NA exonic ENSG00000211965 NA nonsynonymous SNV ENSG00000211965:ENST00000390625:exon2:c.T301C:p.Y101H NA NA 14q32.33 NA Name=CTCF NA NA rs140678750 0.0032 0.0032 0.004 0.00259585 0.008 NA 0.0029 NA 0.0031 0.01 0.0017 0.0028 NA 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.501924 1.501924 0.03 0.007107 0.000508 NA NA NA 5.8148264 1071 14 35761675 35761675 C G UTR5 PSMA6 NM_002791:c.-8C>G NA NA UTR5 ENSG00000100902 ENST00000554541:c.-8C>G,ENST00000261479:c.-8C>G,ENST00000554961:c.-8C>G,ENST00000554620:c.-8C>G,ENST00000553809:c.-8C>G,ENST00000553688:c.-8C>G,ENST00000555764:c.-16511C>G NA NA NA NA 14q13.2 NA Name=CEBPB,CHD2_(N-1250),ELF1_(SC-631),FOXA1_(SC-101058),Max,Oct-2,TCF4,Pol2,SP1,Mxi1_(bHLH),TR4,YY1_(C-20),TAF1,GABP,POU2F2,USF-1,TBP,NFKB,HEY1,c-Myc,SIX5,RFX5_(N-494),HDAC2_(SC-6296),Pol2-4H8,HA-E2F1,JunD,Pol2(b),ELK4 NA NA rs1048990 0.19 0.19 0.164 0.190296 0.164 0.37 0.2046 0.0318 0.2362 0.17 0.36 0.18 0.05 0.1849 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904489 NA NA 0.170233 0.054244 NA 0.21 CLINSIG=other;CLNDBN=Myocardial_infarction;CLNREVSTAT=single;CLNACC=RCV000007198.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027051:22298006 5.8142004 1071 20 25276108 25276108 G A intronic ABHD12,PYGB NA NA NA intronic ENSG00000100994,ENSG00000100997 NA NA NA NA NA 20p11.21 NA Name=CTCF,Pol2 Name=7 NA rs2424705 0.2 0.2 0.177 0.162939 0.1859 0.3492 0.1297 0.053 0.1196 0.19 0.35 0.16 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263528 NA NA NA NA NA 0.094 NA 5.8141 1071 19 7550844 7550844 G A exonic PEX11G NA synonymous SNV PEX11G:NM_001270539:exon2:c.C129T:p.S43S,PEX11G:NM_080662:exon2:c.C129T:p.S43S exonic ENSG00000104883 NA synonymous SNV ENSG00000104883:ENST00000221480:exon2:c.C129T:p.S43S NA NA 19p13.2 Score=799;Name=V$PPARG_03 NA NA NA rs34970001 0.26 0.26 0.272 0.255192 0.3032 0.2083 0.255 0.2572 0.2515 0.3 0.23 0.23 0.27 0.2643 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980698 NA NA 0.285814 0.245801 NA 0.138 NA 5.8133526 1071 1 38030609 38030609 C T intronic DNALI1 NA NA NA intronic ENSG00000163879 NA NA NA Score=573;Name=lod=283 NA 1p34.3 NA NA Name=2 NA rs41267315 0.03 0.03 0.017 0.0231629 0.0547 0.0089 0.0202 0.003 0.0348 0.06 0.0035 0.02 0.0041 0.054 0.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.073216 4.073216 NA 0.078023 0.019065 NA 0.036 NA 5.813277 1071 5 146085921 146085921 C G intronic PPP2R2B NA NA NA intronic ENSG00000156475 NA NA NA NA NA 5q32 NA Name=CTCF_(SC-5916),CTCF Name=5 NA rs77282119 0.23 0.23 0.198 0.208466 0.1869 0.4206 0.2118 0.0893 0.1708 0.18 0.41 0.19 0.11 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732106 NA NA NA NA NA 0.13 NA 5.8131 1071 19 38956803 38956803 G A exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon24:c.G2943A:p.T981T,RYR1:NM_001042723:exon24:c.G2943A:p.T981T exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon24:c.G2943A:p.T981T,ENSG00000196218:ENST00000359596:exon24:c.G2943A:p.T981T,ENSG00000196218:ENST00000360985:exon24:c.G2943A:p.T981T NA NA 19q13.2 Score=748;Name=V$MYOGNF1_01 NA NA NA rs2228069 0.6 0.6 0.609 0.545527 0.6412 0.5298 0.6599 0.5212 0.4151 0.64 0.54 0.67 0.56 0.5962 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957711 NA NA 0.616306 0.559545 NA 0.536 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided,not_provided;CLNREVSTAT=single|not,not;CLNACC=RCV000079138.1|RCV000119602.1,RCV000119603.1;CLNDSDB=.|.,.;CLNDSDBID=.|.,. 5.8129606 1071 4 86797 86797 A G exonic ZNF595 NA unknown UNKNOWN ncRNA_exonic ENSG00000255436 NA NA NA NA NA 4p16.3 NA Name=KAP1,ZNF274,SETDB1 NA NA rs180742908 0.0037 0.0037 NA 0.00199681 0.0089 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0054 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073377 NA NA 0.006232 0.001873 NA NA NA 5.8128013 1071 1 19411129 19411129 A G exonic UBR4 NA synonymous SNV UBR4:NM_020765:exon102:c.T14877C:p.H4959H exonic ENSG00000127481 NA synonymous SNV ENSG00000127481:ENST00000429347:exon12:c.T1446C:p.H482H,ENSG00000127481:ENST00000543981:exon14:c.T1869C:p.H623H,ENSG00000127481:ENST00000375224:exon17:c.T1998C:p.H666H,ENSG00000127481:ENST00000375217:exon102:c.T14856C:p.H4952H,ENSG00000127481:ENST00000375226:exon102:c.T14805C:p.H4935H,ENSG00000127481:ENST00000375254:exon102:c.T14877C:p.H4959H,ENSG00000127481:ENST00000375267:exon102:c.T14877C:p.H4959H Score=629;Name=lod=481 NA 1p36.13 NA NA NA Score=96;Name=19899_0_+_96 rs1043905 0.72 0.72 0.714 0.71885 0.6074 0.8105 0.7349 0.8366 0.5685 0.6 0.82 0.71 0.82 0.6447 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087634 NA NA 0.602209 0.806627 NA 0.732 NA 5.8123576 1071 15 70352968 70352968 C G exonic TLE3 NA synonymous SNV TLE3:NM_001105192:exon9:c.G615C:p.S205S,TLE3:NM_005078:exon9:c.G615C:p.S205S,TLE3:NM_020908:exon9:c.G615C:p.S205S exonic ENSG00000140332 NA synonymous SNV ENSG00000140332:ENST00000539550:exon7:c.G447C:p.S149S,ENSG00000140332:ENST00000560589:exon7:c.G447C:p.S149S,ENSG00000140332:ENST00000558201:exon8:c.G633C:p.S211S,ENSG00000140332:ENST00000559048:exon8:c.G630C:p.S210S,ENSG00000140332:ENST00000560939:exon8:c.G630C:p.S210S,ENSG00000140332:ENST00000317509:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000440567:exon9:c.G594C:p.S198S,ENSG00000140332:ENST00000442299:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000451782:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000557907:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000557919:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000557997:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000558379:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000558939:exon9:c.G615C:p.S205S,ENSG00000140332:ENST00000559929:exon9:c.G645C:p.S215S,ENSG00000140332:ENST00000561453:exon9:c.G615C:p.S205S Score=539;Name=lod=207 NA 15q23 NA NA NA NA rs2228176 0.27 0.27 0.234 0.210863 0.2952 0.2321 0.3329 0.1354 0.1176 0.32 0.25 0.35 0.15 0.272 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431792 NA NA 0.287195 0.150342 NA 0.246 NA 5.8122716 1071 3 52453893 52453893 C T exonic PHF7 NA synonymous SNV PHF7:NM_016483:exon5:c.C231T:p.G77G,PHF7:NM_173341:exon5:c.C231T:p.G77G exonic ENSG00000010318 NA synonymous SNV ENSG00000010318:ENST00000327906:exon5:c.C231T:p.G77G,ENSG00000010318:ENST00000347025:exon5:c.C231T:p.G77G,ENSG00000010318:ENST00000478707:exon5:c.C231T:p.G77G Score=582;Name=lod=310 NA 3p21.1 NA Name=Egr-1 NA NA rs498778 0.97 0.97 0.97 0.971446 0.9404 0.9812 0.9424 0.9947 0.9826 0.94 0.99 0.94 0.99 0.9632 0.99 . . . . . . . . 0.000 P . . . . -1.030 T 0.000 T . 0.966 8.942 0.502 0.129 -0.160 0.846 0.966045 NA NA 0.950814 0.982524 NA 0.978 NA 5.8122526 1071 1 226595647 226595647 C G UTR5 PARP1 NM_001618:c.-17G>C NA NA UTR5 ENSG00000143799 ENST00000366794:c.-17G>C,ENST00000366792:c.-17G>C,ENST00000366791:c.-17G>C,ENST00000366790:c.-17G>C NA NA NA NA 1q42.12 NA Name=E2F6_(H-50),ETS1,TAF1,GATA-1,Pol2(b),POU2F2,Mxi1_(bHLH),Pol2,Pol2(phosphoS2),BCL11A,YY1_(C-20),E2F1,TR4,Pol2-4H8,E2F6,ZNF263,c-Myc,Max,HEY1,ELF1_(SC-631),PAX5-N19,PAX5-C20,Oct-2,TBP Name=147 NA rs907187 0.25 0.25 0.175 0.199081 0.163 0.4375 0.353 0.0371 0.1002 0.18 0.46 0.33 0.06 0.2035 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.605997 1.605997 NA 0.154759 0.0495 ID=COSN392383;OCCURENCE=1(lung) NA NA 5.8120744 1071 9 132597062 132597062 A C intronic C9orf78 NA NA NA intronic ENSG00000136819 NA NA NA NA NA 9q34.11 NA Name=ELF1_(SC-631) Name=8 NA rs41278736 0.07 0.07 0.081 0.0838658 0.0606 0.0099 0.0562 0.1815 0.0716 0.05 0.02 0.06 0.16 0.0644 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002578 NA NA 0.063256 0.157739 NA 0.145 NA 5.811744 1071 12 107914579 107914579 G A intronic BTBD11 NA NA NA intronic ENSG00000151136 NA NA NA NA NA 12q23.3 NA Name=GATA3_(SC-268),p300,FOXA1_(C-20) Name=4 NA rs11113367 0.29 0.29 0.297 0.28774 0.1889 0.3105 0.3674 0.3994 0.1585 0.19 0.31 0.31 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858018 NA NA NA NA NA 0.246 NA 5.8111 1071 7 100465355 100465355 C T intronic TRIP6 NA NA NA intronic ENSG00000087077 NA NA NA NA NA 7q22.1 NA Name=HMGN3,Pol2 Name=3 NA rs12705089 0.11 0.11 0.098 0.0910543 0.1899 0.0327 0.1052 0.0408 0.1074 0.2 0.03 0.12 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316959 NA NA NA NA NA 0.116 NA 5.8101 1071 7 6370194 6370194 C T exonic FAM220A NA nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G592A:p.V198M exonic ENSG00000178397 NA nonsynonymous SNV ENSG00000178397:ENST00000313324:exon2:c.G592A:p.V198M NA NA 7p22.1 NA NA NA NA rs6952125 0.7 0.7 0.702 0.732628 0.4553 0.8839 0.6614 0.8994 0.6871 0.46 0.88 0.63 0.89 0.5913 0.89 0.1 T 0.42 B 0.135 B 0.710 N 1.000 P 0.69 N 3.15 T -1.069 T 0.000 T 0.043 1.636 11.43 -1.16 -0.596 -0.236 1.766 1.635657 1.635657 0.12 0.477674 0.844076 NA 0.717 NA 5.8090594 1071 12 95914758 95914758 T C intronic USP44 NA NA NA intronic ENSG00000136014 NA NA NA NA NA 12q22 NA Name=GATA-1 Name=4 NA rs11108086 0.04 0.04 0.038 0.0363419 0.0706 0.0238 0.0317 0.0023 0.0634 0.07 0.02 0.03 0.0041 0.0523 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791984 NA NA 0.06814 0.01498 NA 0.022 NA 5.80896 1071 9 79321871 79321871 C T exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.G5319A:p.T1773T exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.G5319A:p.T1773T,ENSG00000106772:ENST00000428286:exon8:c.G4242A:p.T1414T NA NA 9q21.2 NA NA NA NA rs577993 0.53 0.53 0.512 0.516374 0.6153 0.4464 0.6571 0.3722 0.5818 0.61 0.45 0.66 0.4 0.6033 0.66 . . . . . . . . 1.000 P . . . . -0.939 T 0.000 T . -1.652 0.012 -3.5 -0.334 -0.645 1.431 -1.652482 NA NA 0.639447 0.430804 NA 0.572 NA 5.8086196 1071 12 70954814 70954814 G A intronic PTPRB NA NA NA intronic ENSG00000127329 NA NA NA NA NA 12q15 NA Name=JunD Name=10 NA rs12580379 0.15 0.15 0.162 0.171126 0.1918 0.131 0.1225 0.1165 0.2996 0.19 0.13 0.12 0.13 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598533 NA NA NA NA NA 0.196 NA 5.8082 1071 9 135982088 135982088 A C exonic RALGDS NA synonymous SNV RALGDS:NM_001042368:exon8:c.T1296G:p.S432S,RALGDS:NM_001271774:exon8:c.T1374G:p.S458S,RALGDS:NM_001271775:exon8:c.T1458G:p.S486S,RALGDS:NM_001271776:exon8:c.T1425G:p.S475S,RALGDS:NM_006266:exon8:c.T1461G:p.S487S exonic ENSG00000160271 NA synonymous SNV ENSG00000160271:ENST00000424572:exon2:c.T141G:p.S47S,ENSG00000160271:ENST00000372047:exon8:c.T1425G:p.S475S,ENSG00000160271:ENST00000372050:exon8:c.T1461G:p.S487S,ENSG00000160271:ENST00000372062:exon8:c.T1374G:p.S458S,ENSG00000160271:ENST00000393157:exon8:c.T1458G:p.S486S,ENSG00000160271:ENST00000393160:exon8:c.T1296G:p.S432S,ENSG00000160271:ENST00000542690:exon13:c.T1674G:p.S558S NA NA 9q34.2 Score=790;Name=V$YY1_02 NA NA NA rs2073822 0.23 0.23 0.198 0.194489 0.2962 0.1577 0.317 0.1422 0.1115 0.29 0.17 0.33 0.15 0.2604 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762882 NA NA 0.301885 0.170377 NA 0.196 NA 5.8081816 1071 9 33466859 33466859 C T intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA Name=CTCF_(SC-5916),c-Myc,CTCF_(C-20),SMC3_(ab9263),Znf143_(16618-1-AP),CTCF,Rad21 Name=90 NA rs507758 0.09 0.09 0.089 0.0902556 0.0626 0.0218 0.0591 0.239 0.0102 0.05 0.03 0.07 0.22 0.0671 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093519 NA NA 0.062442 0.228552 NA 0.152 NA 5.807858 1071 3 52720080 52720080 A C UTR5 GNL3 NM_206825:c.-728A>C,NM_014366:c.-29A>C NA NA UTR5 ENSG00000163938 ENST00000418458:c.-29A>C,ENST00000394799:c.-728A>C,ENST00000492349:c.-29A>C NA NA NA Name=Adiponectin levels 3p21.1 NA Name=PAX5-C20,Oct-2,SIX5,Max,c-Myc,ELF1_(SC-631),HEY1,NFKB,TBP,IRF1,GTF2F1_(RAP-74),p300,USF-1,Nrf1,POU2F2,GABP,USF2,HMGN3,TAF1,Pol2(b),JunD,FOSL2,HA-E2F1,BRCA1_(C-1863),Sin3Ak-20,TAF7_(SQ-8),HDAC2_(SC-6296),ZNF263,Pol2-4H8,Pol2,RFX5_(N-494),Mxi1_(bHLH),SP1,NRSF,Pol2(phosphoS2) Name=148 NA rs1108842 0.55 0.55 0.573 0.490415 0.5209 0.4534 0.6066 0.5726 0.3037 0.53 0.51 0.64 0.57 0.4929 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12565 NA NA 0.511977 0.538357 NA 0.5 NA 5.8075564 1071 2 161025685 161025685 A G intronic ITGB6 NA NA NA intronic ENSG00000115221 NA NA NA NA NA 2q24.2 Score=825;Name=V$GRE_C NA Name=6 NA rs7608557 0.22 0.22 0.224 0.217053 0.0487 0.4296 0.0677 0.298 0.1677 0.05 0.47 0.06 0.31 0.1074 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.699961 1.699961 NA 0.036537 0.253179 NA 0.21 NA 5.807363 1071 7 150704250 150704250 C G exonic NOS3 NA synonymous SNV NOS3:NM_000603:exon17:c.C1998G:p.A666A exonic ENSG00000164867 NA synonymous SNV ENSG00000164867:ENST00000461406:exon14:c.C1380G:p.A460A,ENSG00000164867:ENST00000297494:exon17:c.C1998G:p.A666A Score=641;Name=lod=538 NA 7q36.1 NA NA NA NA rs2566514 0.42 0.42 0.382 0.43131 0.2694 0.3909 0.5043 0.5635 0.409 0.27 0.46 0.49 0.57 0.3414 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.362355 1.362355 NA 0.248605 0.498184 NA 0.428 NA 5.8072616 1071 11 123909342 123909342 G A exonic OR10G7 NA synonymous SNV OR10G7:NM_001004463:exon1:c.C367T:p.L123L exonic ENSG00000182634 NA synonymous SNV ENSG00000182634:ENST00000330487:exon1:c.C367T:p.L123L Score=514;Name=lod=163 NA 11q24.2 NA NA NA NA rs470242 0.24 0.24 0.143 0.23722 0.2853 0.3264 0.2983 0.0363 0.3241 0.3 0.3 0.25 0.05 0.2863 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30052 NA NA 0.287858 0.082273 NA 0.268 NA 5.8072086 1071 19 52327784 52327784 C T exonic FPR3 NA synonymous SNV FPR3:NM_002030:exon2:c.C783T:p.G261G exonic ENSG00000187474 NA synonymous SNV ENSG00000187474:ENST00000339223:exon2:c.C783T:p.G261G,ENSG00000187474:ENST00000595991:exon2:c.C783T:p.G261G NA NA 19q13.41 NA NA Name=2 NA rs3752125 0.24 0.24 0.214 0.226637 0.2763 0.2649 0.2997 0.0998 0.2556 0.27 0.28 0.31 0.12 0.277 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195725 NA NA 0.306744 0.130958 NA 0.232 NA 5.8066226 1071 17 81006387 81006387 G A exonic B3GNTL1 NA synonymous SNV B3GNTL1:NM_001009905:exon3:c.C237T:p.H79H exonic ENSG00000175711 NA synonymous SNV ENSG00000175711:ENST00000320865:exon3:c.C237T:p.H79H NA NA 17q25.3 NA Name=Pol2,TCF4,eGFP-JunD,USF2,Max,c-Fos,JunD,USF-1,eGFP-FOS NA NA rs1143006 0.3 0.3 0.299 0.285543 0.2962 0.3661 0.2709 0.2542 0.2444 0.28 0.39 0.28 0.24 0.2883 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.894406 NA NA 0.275581 0.245801 NA 0.283 NA 5.8065856 1071 2 128079806 128079806 A G exonic MAP3K2 NA synonymous SNV MAP3K2:NM_006609:exon11:c.T861C:p.A287A exonic ENSG00000169967 NA synonymous SNV ENSG00000169967:ENST00000344908:exon11:c.T861C:p.A287A,ENSG00000169967:ENST00000409947:exon12:c.T861C:p.A287A Score=542;Name=lod=213 NA 2q14.3 NA NA NA NA rs3732209 0.19 0.19 0.195 0.20647 0.2803 0.0179 0.1729 0.2663 0.2679 0.27 0.02 0.18 0.27 0.2661 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.509608 1.509608 NA 0.313868 0.256742 NA 0.362 NA 5.8063986 1071 11 8705480 8705480 T C intronic RPL27A NA NA NA UTR3 ENSG00000166441 ENST00000534599:c.*12T>C NA NA NA NA 11p15.4 NA Name=ELF1_(SC-631) Name=40 NA rs7951084 0.19 0.19 0.122 0.190096 0.1779 0.2808 0.1715 0.112 0.228 0.19 0.26 0.21 0.11 0.1824 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095046 NA NA NA NA NA 0.188 NA 5.8063667 1071 8 29886373 29886373 G A intergenic MIR3148,MIR548O2 dist=71509;dist=33885 NA NA ncRNA_exonic ENSG00000254013 NA NA NA Score=535;Name=lod=199 NA 8p12 NA NA Name=17 NA rs10105971 0.24 0.24 0.248 0.238818 0.1938 0.2976 0.1441 0.3336 0.1636 0.2 0.3 0.13 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.917133 NA NA NA NA ID=COSN168306;OCCURENCE=1(large_intestine) 0.181 NA 5.8062 1071 1 42880516 42880516 T C exonic RIMKLA NA synonymous SNV RIMKLA:NM_173642:exon5:c.T1047C:p.S349S exonic ENSG00000177181 NA synonymous SNV ENSG00000177181:ENST00000431473:exon5:c.T1047C:p.S349S Score=534;Name=lod=197 NA 1p34.2 Score=804;Name=V$ISRE_01 NA NA NA rs1055055 0.52 0.52 0.532 0.489417 0.6441 0.3433 0.5173 0.5197 0.4202 0.64 0.37 0.57 0.48 0.58 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498279 NA NA 0.636512 0.536541 ID=COSM146486;OCCURENCE=1(stomach) 0.529 NA 5.8060546 1071 1 179520506 179520506 G A exonic NPHS2 NA synonymous SNV NPHS2:NM_014625:exon8:c.C954T:p.A318A exonic ENSG00000116218 NA synonymous SNV ENSG00000116218:ENST00000367616:exon7:c.C750T:p.A250A,ENSG00000116218:ENST00000367615:exon8:c.C954T:p.A318A NA NA 1q25.2 NA Name=eGFP-JunD,c-Fos,EBF,PAX5-C20,AP-2gamma Name=94 NA rs1410592 0.57 0.57 0.551 0.58766 0.6153 0.4911 0.634 0.5946 0.6166 0.6 0.52 0.68 0.52 0.6192 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790284 NA NA 0.626163 0.599637 ID=COSM146700;OCCURENCE=1(stomach) 0.63 NA 5.8060036 1071 22 46652959 46652959 A G exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.T6261C:p.P2087P exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.T6261C:p.P2087P NA NA 22q13.31 Score=845;Name=V$HAND1E47_01 NA NA NA rs4508712 0.35 0.35 0.382 0.370407 0.2893 0.0516 0.2147 0.9244 0.1442 0.28 0.04 0.23 0.91 0.2836 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959664 NA NA 0.287907 0.833636 NA 0.5 NA 5.8058596 1071 3 97806616 97806616 G A exonic OR5AC2 NA nonsynonymous SNV OR5AC2:NM_054106:exon1:c.G600A:p.M200I exonic ENSG00000196578 NA nonsynonymous SNV ENSG00000196578:ENST00000358642:exon1:c.G600A:p.M200I NA NA 3q11.2 NA NA NA NA rs4518168 0.51 0.51 0.502 0.523363 0.505 0.4454 0.5461 0.5416 0.5818 0.51 0.44 0.53 0.56 0.5099 0.56 0.18 T 0.0 B 0.01 B 0.166 N 1.000 P 0.925 L 1.27 T -0.913 T 0.000 T 0.081 0.744 7.949 1.48 0.107 0.308 3.429 0.744366 NA 0.31 0.512677 0.523831 NA 0.449 NA 5.8057564 1071 17 48549791 48549791 C G exonic ACSF2 NA synonymous SNV ACSF2:NM_025149:exon12:c.C1326G:p.A442A exonic ENSG00000167107 NA synonymous SNV ENSG00000167107:ENST00000541920:exon10:c.C846G:p.A282A,ENSG00000167107:ENST00000504392:exon11:c.C1197G:p.A399A,ENSG00000167107:ENST00000300441:exon12:c.C1326G:p.A442A,ENSG00000167107:ENST00000502667:exon12:c.C1287G:p.A429A,ENSG00000167107:ENST00000427954:exon13:c.C1401G:p.A467A Score=412;Name=lod=63 NA 17q21.33 NA NA NA NA rs2305998 0.22 0.22 0.198 0.185703 0.2992 0.1409 0.2493 0.0855 0.2055 0.29 0.15 0.31 0.13 0.2584 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762433 NA NA 0.303372 0.128915 NA 0.116 NA 5.8056946 1071 1 21952590 21952590 G A intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=GATA-2 Name=2 NA rs10917025 0.27 0.27 0.233 0.265176 0.1948 0.4851 0.3415 0.0356 0.3671 0.21 0.49 0.34 0.05 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031515 NA NA NA NA NA 0.159 NA 5.8052 1071 1 146523957 146523957 T C intergenic LOC728989,PRKAB2 dist=9358;dist=102728 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=736;Name=lod=1309 NA 1q21.1 NA Name=PU.1 NA NA rs61734778 0.31 0.31 0.279 0.348043 0.1948 0.4395 0.3545 0.3222 0.4417 0.2 0.44 0.32 0.31 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004639 NA NA NA NA NA 0.217 NA 5.8052 1072 10 129861497 129861497 G A intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA Name=SP1,PU.1,BCL11A,IRF4_(M-17),NFKB,PAX5-N19,TCF12,EBF,Egr-1,GATA-2 Name=40 NA rs56204987 0.09 0.09 0.088 0.0850639 0.0964 0.001 0.0692 0.1982 0.0184 0.09 0.0017 0.07 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536521 NA NA 0.09868 0.17341 NA 0.065 NA 5.80492 1072 11 10786175 10786175 C T exonic CTR9 NA synonymous SNV CTR9:NM_014633:exon12:c.C1494T:p.T498T exonic ENSG00000198730 NA synonymous SNV ENSG00000198730:ENST00000361367:exon12:c.C1494T:p.T498T Score=333;Name=lod=30 NA 11p15.3 NA NA NA NA rs7118399 0.22 0.22 0.208 0.199081 0.3052 0.2133 0.1542 0.1112 0.226 0.32 0.18 0.19 0.12 0.2518 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780966 NA NA 0.305776 0.139255 ID=COSM147144;OCCURENCE=1(stomach) 0.283 NA 5.8038906 1072 1 26508293 26508293 G A intronic CNKSR1 NA NA NA intronic ENSG00000142675 NA NA NA NA NA 1p36.11 NA Name=STAT3 Name=34 NA rs3819033 0.26 0.26 0.216 0.285942 0.1004 0.5933 0.4063 0.0053 0.454 0.1 0.61 0.36 0.01 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851941 NA NA 0.095852 0.03396 NA 0.196 NA 5.803748 1072 20 16493533 16493533 T C exonic KIF16B NA synonymous SNV KIF16B:NM_001199865:exon5:c.A384G:p.G128G,KIF16B:NM_001199866:exon5:c.A384G:p.G128G,KIF16B:NM_024704:exon5:c.A384G:p.G128G exonic ENSG00000089177 NA synonymous SNV ENSG00000089177:ENST00000354981:exon5:c.A384G:p.G128G,ENSG00000089177:ENST00000355755:exon5:c.A384G:p.G128G,ENSG00000089177:ENST00000408042:exon5:c.A384G:p.G128G NA NA 20p12.1 NA NA Name=2 NA rs6135775 0.25 0.25 0.234 0.241214 0.2843 0.38 0.2839 0.0582 0.271 0.28 0.36 0.28 0.05 0.2721 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124568 NA NA 0.307209 0.104176 NA 0.188 NA 5.8030576 1072 5 50057729 50057729 G A exonic PARP8 NA synonymous SNV PARP8:NM_001178056:exon6:c.G420A:p.G140G,PARP8:NM_024615:exon6:c.G420A:p.G140G,PARP8:NM_001178055:exon7:c.G420A:p.G140G exonic ENSG00000151883 NA synonymous SNV ENSG00000151883:ENST00000281631:exon6:c.G420A:p.G140G,ENSG00000151883:ENST00000505554:exon6:c.G357A:p.G119G,ENSG00000151883:ENST00000514067:exon6:c.G420A:p.G140G,ENSG00000151883:ENST00000515166:exon6:c.G420A:p.G140G,ENSG00000151883:ENST00000503750:exon7:c.G420A:p.G140G,ENSG00000151883:ENST00000505697:exon7:c.G420A:p.G140G Score=598;Name=lod=359 NA 5q11.1 Score=825;Name=V$BRN2_01 NA NA NA rs282547 0.57 0.57 0.528 0.467851 0.6272 0.6687 0.5778 0.1619 0.4325 0.66 0.74 0.62 0.18 0.5754 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601468 NA NA 0.661395 0.253291 NA 0.493 NA 5.8026716 1072 4 54966667 54966667 C T exonic GSX2 NA synonymous SNV GSX2:NM_133267:exon1:c.C156T:p.S52S exonic ENSG00000180613 NA synonymous SNV ENSG00000180613:ENST00000326902:exon1:c.C156T:p.S52S,ENSG00000180613:ENST00000503800:exon1:c.C156T:p.S52S Score=619;Name=lod=439 NA 4q12 NA Name=SUZ12 NA NA rs3194383 0.62 0.62 0.548 0.60024 0.6143 0.8423 0.7219 0.2859 0.6748 0.61 0.83 0.69 0.33 0.634 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239479 1.239479 NA 0.615725 0.335984 NA 0.29 NA 5.8026416 1072 3 97664725 97664725 C T exonic MINA NA nonsynonymous SNV MINA:NM_001042533:exon9:c.G1156A:p.A386T,MINA:NM_001261829:exon9:c.G1153A:p.A385T,MINA:NM_032778:exon9:c.G1153A:p.A385T,MINA:NM_153182:exon9:c.G1156A:p.A386T exonic ENSG00000170854 NA nonsynonymous SNV ENSG00000170854:ENST00000333396:exon9:c.G1156A:p.A386T,ENSG00000170854:ENST00000360258:exon9:c.G1153A:p.A385T,ENSG00000170854:ENST00000394198:exon9:c.G1156A:p.A386T NA NA 3q11.2 NA NA NA NA rs2172257 0.51 0.51 0.496 0.478035 0.5119 0.6746 0.5101 0.2648 0.5061 0.52 0.71 0.46 0.29 0.5041 0.71 0.65 T 0.004 B 0.01 B 0.162 N 1.000 P 0.235 N 2.71 T -1.027 T 0.000 T 0.076 0.946 8.856 1.6 0.311 -0.512 5.47 0.945657 NA 0.43 0.514771 0.291194 ID=COSM447109;OCCURENCE=1(breast) 0.449 NA 5.8025624 1072 4 187629497 187629497 G A exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon2:c.C1485T:p.N495N exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon2:c.C1485T:p.N495N Score=397;Name=lod=55 NA 4q35.2 Score=877;Name=V$GATA1_03 NA NA NA rs458021 0.45 0.45 0.434 0.421925 0.6461 0.2242 0.5692 0.2859 0.4744 0.65 0.22 0.59 0.31 0.5644 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.463596 NA NA 0.653726 0.374022 NA 0.399 NA 5.8024406 1072 5 169435713 169435713 A C exonic DOCK2 NA synonymous SNV DOCK2:NM_004946:exon32:c.A3195C:p.L1065L exonic ENSG00000134516 NA synonymous SNV ENSG00000134516:ENST00000520908:exon18:c.A1671C:p.L557L,ENSG00000134516:ENST00000540750:exon18:c.A378C:p.L126L,ENSG00000134516:ENST00000256935:exon32:c.A3195C:p.L1065L Score=598;Name=lod=359 NA 5q35.1 NA NA NA NA rs2287727 0.25 0.25 0.217 0.243011 0.2783 0.3909 0.3026 0.0257 0.3057 0.28 0.37 0.31 0.03 0.2919 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185421 NA NA 0.294535 0.076714 NA 0.261 NA 5.8019316 1072 11 89391889 89391889 A G upstream FOLH1B NA NA NA ncRNA_exonic ENSG00000134612 NA NA NA Score=591;Name=lod=337 NA 11q14.3 Score=906;Name=V$GATA1_04 NA NA NA rs2851529 0.2 0.2 0.114 0.217053 0.3648 0.1359 0.2277 0.1346 0.2526 0.3 0.09 0.26 0.11 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.213321 2.213321 NA NA NA NA 0.297 NA 5.8018666 1072 6 31106893 31106893 A G UTR5 PSORS1C2 NM_014069:c.-90T>C NA NA UTR5 ENSG00000204538 ENST00000259845:c.-90T>C NA NA NA NA 6p21.33 NA Name=CTCF Name=5 NA rs1265094 0.49 0.49 0.473 0.477636 0.5318 0.3502 0.4438 0.562 0.4632 0.53 0.37 0.46 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045243 NA NA NA NA NA 0.543 NA 5.8015334 1072 16 2115506 2115506 C T intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA Name=19 NA rs45517185 0.04 0.04 0.029 0.034345 0.0726 NA 0.0461 0.0023 0.0654 0.07 NA 0.07 0.0041 0.0566 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.770831 NA NA 0.069419 0.015241 NA 0.022 CLINSIG=untested|untested|untested|non-pathogenic;CLNDBN=Tuberous_sclerosis_syndrome|Lymphangiomyomatosis|Tuberous_sclerosis_syndrome|not_provided;CLNREVSTAT=not|not|not|single;CLNACC=RCV000043407.2|RCV000055598.1|RCV000055598.1|RCV000125653.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK1220:C0041341:191100:7199000|C0751674:606690:ORPHA538:73017001|NBK1220:C0041341:191100:7199000|. 5.801381 1072 6 29856022 29856022 G A ncRNA_intronic HLA-H NA NA NA ncRNA_exonic ENSG00000230521 NA NA NA NA NA 6p22.1 NA Name=NFKB,Pol2,Pol2-4H8 Name=64 NA rs1611611 0.45 0.45 0.35 0.419129 0.4781 0.4613 0.5173 0.3593 0.3262 0.48 0.45 0.44 0.39 0.3872 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384887 NA NA NA NA NA 0.116 NA 5.8013666 1072 9 86281195 86281195 A G intronic UBQLN1 NA NA NA intronic ENSG00000135018 NA NA NA Score=381;Name=lod=47 NA 9q21.32 NA NA Name=4 NA rs12344615 0.15 0.15 0.142 0.167133 0.1988 0.002 0.1326 0.2542 0.2117 0.19 0.0017 0.14 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490254 NA NA NA NA NA 0.159 NA 5.8012 1072 11 130779803 130779803 C T intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA Name=STAT3,c-Fos,c-Jun Name=101 NA rs1559671 0.15 0.15 0.142 0.129593 0.1988 0.1637 0.0893 0.0492 0.1605 0.2 0.19 0.1 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759846 NA NA NA NA NA 0.217 NA 5.8012 1072 12 95656936 95656936 A G intronic VEZT NA NA NA intronic ENSG00000028203 NA NA NA NA NA 12q22 Score=890;Name=V$SRY_02 Name=GATA-2 NA NA rs12305760 0.28 0.28 0.296 0.321086 0.1988 0.2252 0.255 0.525 0.317 0.19 0.23 0.26 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424667 NA NA NA NA NA 0.362 NA 5.8012 1072 11 123065683 123065683 C T UTR5 CLMP NM_024769:c.-35G>A NA NA ncRNA_UTR5 ENSG00000166250 NA NA NA Score=300;Name=lod=22 NA 11q24.1 NA Name=E2F6,Pol2,TAF1,AP-2gamma,HA-E2F1,E2F1,NANOG_(SC-33759),AP-2alpha Name=69 NA rs2302605 0.5 0.5 0.457 0.482228 0.5924 0.5933 0.6571 0.1029 0.6431 0.59 0.62 0.62 0.12 0.5551 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865386 NA NA 0.55164 0.194432 NA 0.348 NA 5.80086 1072 6 4998963 4998963 A G exonic RPP40 NA synonymous SNV RPP40:NM_006638:exon5:c.T546C:p.A182A exonic ENSG00000124787 NA synonymous SNV ENSG00000124787:ENST00000319533:exon4:c.T477C:p.A159A,ENSG00000124787:ENST00000380051:exon5:c.T546C:p.A182A,ENSG00000124787:ENST00000464646:exon5:c.T366C:p.A122A Score=497;Name=lod=139 NA 6p25.1 NA NA NA NA rs1749144 0.31 0.31 0.298 0.342252 0.2773 0.1677 0.3156 0.5242 0.362 0.27 0.16 0.34 0.53 0.3242 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232916 NA NA 0.26461 0.476898 NA 0.428 NA 5.8005566 1072 9 34622389 34622389 A C exonic ARID3C NA nonsynonymous SNV ARID3C:NM_001017363:exon5:c.T1003G:p.C335G exonic ENSG00000205143 NA nonsynonymous SNV ENSG00000205143:ENST00000378909:exon5:c.T1003G:p.C335G NA NA 9p13.3 NA NA NA NA rs3808869 0.56 0.56 0.542 0.602436 0.4692 0.4802 0.598 0.7723 0.6391 0.48 0.51 0.57 0.75 0.5532 0.75 0.74 T 0.0 B 0.0 B 0.079 N 1.000 P -1.39 N 1.14 T -1.008 T 0.000 T 0.024 -1.414 0.022 0.293 -0.044 -0.178 4.092 -1.413812 NA 0.69 0.511395 0.726963 NA 0.551 NA 5.7995384 1072 12 120907147 120907147 G A intronic SRSF9 NA NA NA intronic ENSG00000111786 NA NA NA NA NA 12q24.31 NA Name=PU.1,CTCFL_(SC-98982),CTCF,Egr-1,ZBTB7A_(SC-34508),CTCF_(C-20) Name=71 NA rs61945873 0.18 0.18 0.13 0.209465 0.2008 0.1587 0.1657 0.2799 0.2065 0.19 0.15 0.17 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.433767 1.433767 NA NA NA NA NA NA 5.7992 1072 17 44344926 44344926 A G intergenic KANSL1,LRRC37A dist=42186;dist=27571 NA NA ncRNA_intronic ENSG00000261575 NA NA NA NA NA 17q21.31 NA Name=ZEB1_(SC-25388),ZNF263 Name=148 NA rs74652075 0.1 0.1 0.103 0.0734824 0.2008 0.001 0.1412 0.0113 0.0532 0.19 0.0017 0.16 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449691 NA NA NA NA NA 0.051 NA 5.7992 1072 17 44344970 44344970 T C intergenic KANSL1,LRRC37A dist=42230;dist=27527 NA NA ncRNA_intronic ENSG00000261575 NA NA NA NA NA 17q21.31 NA Name=ZEB1_(SC-25388),FOXA1_(C-20) Name=148 NA rs77568881 0.1 0.1 0.096 0.0734824 0.2008 0.001 0.1412 0.0113 0.0532 0.19 0.0017 0.16 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272614 NA NA NA NA NA 0.043 NA 5.7992 1072 7 92099310 92099310 A G intergenic GATAD1,PEX1 dist=9929;dist=17027 NA NA exonic ENSG00000242950 NA nonsynonymous SNV ENSG00000242950:ENST00000493463:exon1:c.T386C:p.V129A,ENSG00000242950:ENST00000603053:exon2:c.T386C:p.V129A NA NA 7q21.2 NA NA NA NA rs142852059 0.01 0.01 0.003 0.00499201 0.0159 NA 0.0086 0.0008 0.002 0.01 NA 0.02 0.002 0.0074 0.02 0.03 D . . . . . . 1.000 N 1.625 L 2.24 T -1.026 T 0.024 T 0.062 0.99 9.041 0.046 0.115 0.164 . 0.989648 NA NA 0.011512 0.001589 NA 0.014 NA 5.7985214 1072 2 183935867 183935867 G A intergenic NCKAP1,DUSP19 dist=32638;dist=7420 NA NA ncRNA_exonic ENSG00000231203 NA NA NA Score=507;Name=lod=153 NA 2q32.1 NA Name=CtBP2,NANOG_(SC-33759),CTCF NA NA rs2952345 0.2 0.2 0.192 0.210064 0.2018 0.0903 0.1124 0.388 0.1708 0.2 0.08 0.14 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071815 NA NA NA NA NA 0.196 NA 5.7982 1072 8 120429282 120429282 G T intronic NOV NA NA NA intronic ENSG00000136999 NA NA NA NA NA 8q24.12 NA Name=AP-2gamma,CTCF_(C-20),CTCF_(SC-5916),RFX5_(N-494),ZNF263,AP-2alpha,CTCF,Rad21,SMC3_(ab9263),TAF1 Name=125 NA rs7834596 0.17 0.17 0.17 0.177316 0.2018 0.006 0.1599 0.2874 0.1922 0.19 0.0035 0.2 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841435 NA NA NA NA NA 0.152 NA 5.7982 1072 2 113890304 113890304 T C exonic IL1RN NA synonymous SNV IL1RN:NM_173842:exon4:c.T390C:p.S130S,IL1RN:NM_000577:exon5:c.T336C:p.S112S,IL1RN:NM_173841:exon6:c.T399C:p.S133S,IL1RN:NM_173843:exon6:c.T288C:p.S96S exonic ENSG00000136689 NA synonymous SNV ENSG00000136689:ENST00000409930:exon4:c.T390C:p.S130S,ENSG00000136689:ENST00000354115:exon5:c.T336C:p.S112S,ENSG00000136689:ENST00000259206:exon6:c.T399C:p.S133S,ENSG00000136689:ENST00000361779:exon6:c.T288C:p.S96S,ENSG00000136689:ENST00000409052:exon8:c.T288C:p.S96S NA NA 2q13 Score=847;Name=V$ZID_01 NA NA NA rs315952 0.39 0.39 0.378 0.35004 0.2803 0.5556 0.2147 0.466 0.1493 0.3 0.58 0.2 0.46 0.3082 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131241 NA NA 0.280465 0.435996 NA 0.355 NA 5.7977016 1072 12 104515108 104515108 G A intronic NFYB NA NA NA intronic ENSG00000120837 NA NA NA NA NA 12q23.3 NA Name=c-Fos Name=104 NA rs115044997 0.05 0.05 0.031 0.0399361 0.0825 0.001 0.0504 0.025 0.0491 0.08 NA 0.06 0.03 0.057 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.315054 2.315054 NA 0.06314 0.031775 ID=COSM328316;OCCURENCE=1(pancreas) 0.007 NA 5.79736 1072 5 179043041 179043041 C G intronic HNRNPH1 NA NA NA intronic ENSG00000169045 NA NA NA NA NA 5q35.3 NA Name=Pol2(b) Name=5 NA rs4256313 0.33 0.33 0.318 0.339058 0.2028 0.6518 0.3833 0.1392 0.3957 0.2 0.67 0.37 0.11 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.288484 NA NA NA NA NA 0.152 NA 5.7972 1072 6 31323468 31323468 G T intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=USF-1,Pol2,Pol2-4H8 Name=3 NA rs3897530 0.26 0.26 0.248 0.288738 0.2028 0.1994 0.2795 0.3971 0.3292 0.19 0.24 0.3 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550745 NA NA NA NA NA 0.181 NA 5.7972 1072 15 64508763 64508763 G A exonic CSNK1G1 NA synonymous SNV CSNK1G1:NM_022048:exon5:c.C442T:p.L148L exonic ENSG00000169118,ENSG00000259316 NA synonymous SNV ENSG00000169118:ENST00000606225:exon4:c.C442T:p.L148L,ENSG00000169118:ENST00000303032:exon5:c.C442T:p.L148L,ENSG00000169118:ENST00000303052:exon5:c.C442T:p.L148L,ENSG00000259316:ENST00000561349:exon5:c.C310T:p.L104L,ENSG00000169118:ENST00000607537:exon5:c.C442T:p.L148L,ENSG00000259316:ENST00000606793:exon7:c.C361T:p.L121L Score=532;Name=lod=194 NA 15q22.31 NA NA NA NA rs6494466 0.38 0.38 0.431 0.485423 0.2386 0.1419 0.2089 0.9614 0.6462 0.23 0.16 0.25 0.95 0.3625 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.031046 2.031046 NA 0.268372 0.839991 NA 0.493 NA 5.7971946 1072 15 86124419 86124419 C T exonic AKAP13 NA synonymous SNV AKAP13:NM_006738:exon7:c.C3120T:p.S1040S,AKAP13:NM_007200:exon7:c.C3120T:p.S1040S exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000361243:exon7:c.C3120T:p.S1040S,ENSG00000170776:ENST00000394518:exon7:c.C3120T:p.S1040S,ENSG00000170776:ENST00000559362:exon7:c.C3120T:p.S1040S NA NA 15q25.3 NA Name=EBF1_(C-8),ELF1_(SC-631),Pol2 Name=38 NA rs4843073 0.58 0.58 0.597 0.58147 0.6153 0.5784 0.6153 0.5461 0.5736 0.61 0.58 0.61 0.53 0.6103 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12984 NA NA 0.644103 0.591508 NA 0.572 NA 5.7969636 1072 14 24839165 24839165 C T exonic NFATC4 NA synonymous SNV NFATC4:NM_001198965:exon2:c.C561T:p.D187D,NFATC4:NM_001198966:exon2:c.C351T:p.D117D,NFATC4:NM_004554:exon2:c.C561T:p.D187D,NFATC4:NM_001136022:exon3:c.C750T:p.D250D,NFATC4:NM_001198967:exon3:c.C750T:p.D250D exonic ENSG00000100968 NA synonymous SNV ENSG00000100968:ENST00000554344:exon1:c.C351T:p.D117D,ENSG00000100968:ENST00000554661:exon1:c.C351T:p.D117D,ENSG00000100968:ENST00000557451:exon1:c.C351T:p.D117D,ENSG00000100968:ENST00000250373:exon2:c.C561T:p.D187D,ENSG00000100968:ENST00000422617:exon2:c.C525T:p.D175D,ENSG00000100968:ENST00000553708:exon2:c.C561T:p.D187D,ENSG00000100968:ENST00000553879:exon2:c.C351T:p.D117D,ENSG00000100968:ENST00000554050:exon2:c.C561T:p.D187D,ENSG00000100968:ENST00000555453:exon2:c.C525T:p.D175D,ENSG00000100968:ENST00000556169:exon2:c.C525T:p.D175D,ENSG00000100968:ENST00000557674:exon2:c.C492T:p.D164D,ENSG00000100968:ENST00000413692:exon3:c.C750T:p.D250D,ENSG00000100968:ENST00000424781:exon3:c.C600T:p.D200D,ENSG00000100968:ENST00000539237:exon3:c.C657T:p.D219D,ENSG00000100968:ENST00000553469:exon3:c.C657T:p.D219D,ENSG00000100968:ENST00000554591:exon3:c.C750T:p.D250D,ENSG00000100968:ENST00000554966:exon3:c.C600T:p.D200D,ENSG00000100968:ENST00000555590:exon3:c.C600T:p.D200D,ENSG00000100968:ENST00000556279:exon3:c.C657T:p.D219D Score=378;Name=lod=46 NA 14q12 NA NA NA NA rs2228233 0.38 0.38 0.361 0.40016 0.2644 0.4692 0.4323 0.3986 0.4479 0.28 0.47 0.4 0.4 0.3402 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373895 NA NA 0.26523 0.355591 NA 0.283 NA 5.7968366 1072 6 158517308 158517308 A G exonic SYNJ2 NA nonsynonymous SNV SYNJ2:NM_001178088:exon26:c.A3692G:p.E1231G,SYNJ2:NM_003898:exon27:c.A4403G:p.E1468G exonic ENSG00000078269 NA nonsynonymous SNV ENSG00000078269:ENST00000367112:exon10:c.A1658G:p.E553G,ENSG00000078269:ENST00000367122:exon26:c.A4268G:p.E1423G,ENSG00000078269:ENST00000355585:exon27:c.A4403G:p.E1468G NA NA 6q25.3 NA NA NA NA rs2502601 0.53 0.53 0.535 0.547324 0.5119 0.5694 0.3573 0.612 0.6084 0.52 0.53 0.38 0.63 0.5155 0.63 0.67 T 0.0 B 0.0 B 0.466 N 1.000 P -0.345 N 1.03 T -0.826 T 0.218 T 0.025 0.934 8.806 0.080 -0.029 -0.017 5.045 0.934158 NA 0.88 0.509186 0.581707 ID=COSM1441854;OCCURENCE=1(large_intestine) 0.543 NA 5.7967474 1072 1 205779231 205779231 G A exonic SLC41A1 NA synonymous SNV SLC41A1:NM_173854:exon2:c.C339T:p.T113T exonic ENSG00000133065 NA synonymous SNV ENSG00000133065:ENST00000367137:exon2:c.C339T:p.T113T NA NA 1q32.1 NA Name=MafK_(ab50322),MafF_(M8194) NA NA rs11240569 0.27 0.27 0.253 0.276558 0.2883 0.5198 0.1873 0.0174 0.4274 0.29 0.52 0.17 0.03 0.2949 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670122 NA NA 0.286744 0.06355 ID=COSM146744;OCCURENCE=1(stomach) 0.196 NA 5.7967226 1072 8 70855209 70855209 C T intergenic SLCO5A1,PRDM14 dist=107910;dist=108677 NA NA ncRNA_exonic ENSG00000247570 NA NA NA Score=469;Name=lod=107 NA 8q13.3 NA Name=HA-E2F1 NA NA rs17435904 0.16 0.16 0.163 0.173123 0.2038 0.0962 0.219 0.112 0.271 0.18 0.13 0.21 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807597 NA NA NA NA NA 0.181 NA 5.7962 1072 20 10330136 10330136 G A intergenic SNAP25,MKKS dist=42070;dist=55292 NA NA ncRNA_exonic ENSG00000214835 NA NA NA Score=687;Name=lod=828 NA 20p12.2 NA Name=TCF4 NA NA rs6131078 0.18 0.18 0.182 0.201478 0.2038 0.1915 0.1657 0.1528 0.3006 0.2 0.2 0.17 0.15 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003123 NA NA NA NA NA 0.181 NA 5.7962 1072 21 38593620 38593620 G T ncRNA_exonic DSCR9 NA NA NA ncRNA_exonic ENSG00000230366 NA NA NA NA NA 21q22.13 NA Name=ZNF263,Pol2-4H8,c-Fos,HA-E2F1,Sin3Ak-20,STAT3,YY1,Pol2(b),JunD,FOSL2,IRF1,TBP,TCF12,USF-1,SETDB1,CTCF_(C-20),PAX5-N19,HEY1,BCL3,NFKB,CCNT2,c-Myc,eGFP-JunD,IRF4_(M-17),E2F6,USF1_(SC-8983),YY1_(C-20),SMC3_(ab9263),Pol2,ATF3,SP1,GABP,USF2,POU2F2,Znf143_(16618-1-AP),TAF1,E2F6_(H-50),GTF2F1_(RAP-74),BHLHE40,CTCF,Oct-2,Rad21,ELF1_(SC-631),Max,STAT1 Name=147 NA rs13864 0.28 0.28 0.279 0.286142 0.2883 0.256 0.2161 0.3321 0.3027 0.3 0.24 0.21 0.35 0.2885 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342451 NA NA 0.293974 0.312755 NA 0.196 NA 5.7958926 1073 X 295231 295231 A G exonic PPP2R3B NA synonymous SNV PPP2R3B:NM_013239:exon13:c.T1599C:p.P533P exonic ENSG00000167393 NA synonymous SNV ENSG00000167393:ENST00000390665:exon13:c.T1599C:p.P533P Score=309;Name=lod=24 NA Xp22.33 NA NA NA NA rs1133523 0.53 0.53 0.52941 NA NA NA NA NA NA 0.42 0.51 0.43 0.81 0.459 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4231 NA NA 0.412982 0.777905 NA 0.428 NA 5.7946846 1073 1 55167773 55167773 T A exonic MROH7 NA nonsynonymous SNV MROH7:NM_001039464:exon20:c.T3296A:p.V1099D exonic ENSG00000184313,ENSG00000271723 NA nonsynonymous SNV ENSG00000184313:ENST00000409996:exon18:c.T2000A:p.V667D,ENSG00000184313:ENST00000454855:exon18:c.T1850A:p.V617D,ENSG00000271723:ENST00000414150:exon20:c.T3296A:p.V1099D,ENSG00000184313:ENST00000421030:exon20:c.T3296A:p.V1099D NA NA 1p32.3 NA NA NA NA rs646356 0.91 0.91 0.904 0.917931 0.832 0.9365 0.9251 0.9871 0.8885 0.83 0.95 0.91 0.97 0.8727 0.97 1 T 0.0 B 0.0 B 0.888 N 0.999 P -1.845 N 1.53 T -0.985 T 0.000 T 0.175 -1.784 0.01 2.63 0.062 0.573 5.071 -1.783989 NA 0.67 0.834484 0.967539 NA 0.928 NA 5.7941494 1073 5 94749723 94749723 G A exonic FAM81B NA synonymous SNV FAM81B:NM_152548:exon4:c.G366A:p.A122A exonic ENSG00000153347 NA synonymous SNV ENSG00000153347:ENST00000503361:exon3:c.G204A:p.A68A,ENSG00000153347:ENST00000283357:exon4:c.G366A:p.A122A Score=428;Name=lod=73 NA 5q15 NA NA NA NA rs7726891 0.24 0.24 0.27 0.217652 0.334 0.1071 0.2406 0.2428 0.1616 0.32 0.11 0.25 0.24 0.2495 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19298 NA NA 0.289184 0.253367 NA 0.391 NA 5.7939826 1073 1 209953706 209953706 C T intronic TRAF3IP3 NA NA NA intronic ENSG00000009790 NA NA NA NA NA 1q32.2 NA Name=Pol2(b) Name=13 NA rs11590807 0.15 0.15 0.13 0.127995 0.2068 0.0804 0.2061 0.0673 0.1227 0.21 0.09 0.19 0.09 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003437 NA NA NA NA NA 0.188 NA 5.7932 1073 16 74877754 74877754 C T intergenic FA2H,WDR59 dist=69025;dist=29717 NA NA ncRNA_exonic ENSG00000261458 NA NA NA Score=531;Name=lod=192 NA 16q23.1 NA NA Name=13 NA rs12922918 0.3 0.3 0.237 0.321685 0.2068 0.5427 0.4265 0.1195 0.411 0.22 0.56 0.33 0.11 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124531 NA NA NA NA NA 0.225 NA 5.7932 1073 7 75959188 75959188 G A exonic YWHAG NA synonymous SNV YWHAG:NM_012479:exon2:c.C450T:p.S150S exonic ENSG00000170027 NA synonymous SNV ENSG00000170027:ENST00000307630:exon2:c.C450T:p.S150S NA NA 7q11.23 NA NA NA Score=76;Name=2196919.4_0_+_76 rs2072435 0.34 0.34 0.318 0.3125 0.2982 0.4454 0.2896 0.329 0.184 0.29 0.45 0.31 0.31 0.291 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058387 NA NA 0.284884 0.302769 NA 0.261 NA 5.7925826 1073 19 53344701 53344701 A G exonic ZNF468 NA synonymous SNV ZNF468:NM_001008801:exon4:c.T846C:p.H282H exonic ENSG00000204604 NA synonymous SNV ENSG00000204604:ENST00000390651:exon4:c.T687C:p.H229H,ENSG00000204604:ENST00000595646:exon4:c.T846C:p.H282H,ENSG00000204604:ENST00000396409:exon5:c.T687C:p.H229H NA NA 19q13.41 NA Name=SETDB1 NA NA rs10420793 0.3 0.3 0.298 0.360024 0.2674 0.1101 0.2752 0.562 0.5 0.27 0.11 0.29 0.56 0.3118 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00822 NA NA 0.295 0.520654 ID=COSM148724;OCCURENCE=1(stomach) 0.348 NA 5.7924666 1073 17 26676135 26676135 C T exonic POLDIP2 NA unknown UNKNOWN exonic ENSG00000004142 NA synonymous SNV ENSG00000004142:ENST00000540200:exon11:c.G963A:p.S321S Score=613;Name=lod=413 NA 17q11.2 NA Name=Pol2 NA NA rs13469 0.54 0.54 0.515 0.505192 0.499 0.7073 0.562 0.3487 0.4744 0.49 0.78 0.56 0.34 0.5226 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.505848 2.505848 NA 0.519796 0.361833 NA 0.486 NA 5.7919373 1073 22 39069181 39069181 T C exonic CBY1 NA synonymous SNV CBY1:NM_015373:exon5:c.T321C:p.A107A,CBY1:NM_001002880:exon6:c.T450C:p.A150A exonic ENSG00000100211 NA synonymous SNV ENSG00000100211:ENST00000216029:exon5:c.T321C:p.A107A,ENSG00000100211:ENST00000396811:exon6:c.T321C:p.A107A NA NA 22q13.1 Score=921;Name=V$NFE2_01 NA NA NA rs3747174 0.31 0.31 0.301 0.285743 0.2932 0.3502 0.2032 0.2897 0.2648 0.3 0.38 0.23 0.31 0.2893 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082683 NA NA 0.292326 0.290286 NA 0.333 NA 5.7918406 1073 1 19596156 19596156 G T ncRNA_exonic AKR7L NA NA NA exonic ENSG00000211454 NA unknown UNKNOWN Score=494;Name=lod=136 NA 1p36.13 Score=759;Name=V$HTF_01 Name=CTCF NA NA rs6665756 0.66 0.66 0.645 0.665935 0.6918 0.8016 0.7349 0.3986 0.8119 0.68 0.81 0.72 0.41 0.6863 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012965 NA NA 0.663419 0.436416 NA 0.428 NA 5.7918143 1073 19 8553630 8553630 C T exonic HNRNPM NA synonymous SNV HNRNPM:NM_005968:exon16:c.C2085T:p.G695G,HNRNPM:NM_031203:exon17:c.C1968T:p.G656G exonic ENSG00000099783 NA synonymous SNV ENSG00000099783:ENST00000325495:exon16:c.C2085T:p.G695G,ENSG00000099783:ENST00000348943:exon17:c.C1968T:p.G656G Score=624;Name=lod=460 NA 19p13.2 Score=823;Name=V$RREB1_01 NA Name=2 NA rs6992 0.89 0.89 0.867 0.875998 0.9682 0.9802 0.9395 0.6225 0.9714 0.97 0.99 0.95 0.61 0.9414 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479845 NA NA 0.965465 0.669315 NA 0.841 NA 5.7916016 1073 9 127619005 127619005 G C intronic WDR38 NA NA NA intronic ENSG00000136918 NA NA NA NA NA 9q33.3 NA Name=Pol2-4H8,ZNF263,Pol2(b),Pol2(phosphoS2),Pol2 Name=15 NA rs74942099 0.04 0.04 0.037 0.0289537 0.0815 0.001 0.036 0.0061 0.0297 0.07 0.0017 0.05 0.01 0.0513 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031784 NA NA 0.075875 0.01214 NA 0.022 NA 5.791325 1073 5 178413947 178413947 T C exonic GRM6 NA synonymous SNV GRM6:NM_000843:exon7:c.A1392G:p.G464G exonic ENSG00000113262 NA synonymous SNV ENSG00000113262:ENST00000231188:exon7:c.A1392G:p.G464G,ENSG00000113262:ENST00000517717:exon8:c.A1392G:p.G464G Score=361;Name=lod=39 NA 5q35.3 NA NA NA NA rs11746675 0.57 0.57 0.546 0.535543 0.6382 0.5863 0.6066 0.3971 0.5143 0.64 0.59 0.58 0.45 0.5997 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095903 NA NA 0.637442 0.433727 NA 0.558 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086026.1;CLNDSDB=.;CLNDSDBID=. 5.7913246 1073 3 134825512 134825512 G C intronic EPHB1 NA NA NA intronic ENSG00000154928 NA NA NA NA NA 3q22.2 NA Name=NRSF Name=39 NA rs3732567 0.34 0.34 0.284 0.336062 0.2087 0.7728 0.3646 0.0303 0.41 0.21 0.79 0.31 0.04 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683667 NA NA NA NA NA 0.174 NA 5.7913 1073 17 73515237 73515237 A G intronic TSEN54 NA NA NA intronic ENSG00000182173 NA NA NA NA NA 17q25.1 NA Name=CTCF_(SC-5916),CTCF Name=5 NA rs55786842 0.2 0.2 0.194 0.197484 0.2087 0.0298 0.1657 0.3517 0.1728 0.2 0.03 0.22 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.171652 NA NA NA NA NA 0.355 NA 5.7913 1073 20 30381758 30381758 G C exonic TPX2 NA synonymous SNV TPX2:NM_012112:exon14:c.G1617C:p.S539S exonic ENSG00000088325 NA synonymous SNV ENSG00000088325:ENST00000300403:exon14:c.G1617C:p.S539S,ENSG00000088325:ENST00000340513:exon15:c.G1725C:p.S575S Score=594;Name=lod=347 NA 20q11.21 NA NA NA NA rs1062794 0.32 0.32 0.332 0.291733 0.3161 0.001 0.2435 0.6778 0.0787 0.33 0.0017 0.29 0.69 0.2687 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745135 NA NA 0.290698 0.58965 NA 0.297 NA 5.7911686 1073 17 17394611 17394611 G A exonic MED9 NA synonymous SNV MED9:NM_018019:exon2:c.G243A:p.P81P exonic ENSG00000141026 NA synonymous SNV ENSG00000141026:ENST00000268711:exon2:c.G243A:p.P81P NA NA 17p11.2 NA NA Name=4 NA rs1242489 0.21 0.21 0.182 0.159944 0.3211 0.1409 0.2925 0.025 0.1022 0.31 0.15 0.32 0.03 0.25 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.200073 NA NA 0.304535 0.072628 NA 0.181 NA 5.7910316 1073 7 143085822 143085822 G A intronic ZYX NA NA NA intronic ENSG00000159840 NA NA NA NA NA 7q34 NA Name=CTCF_(SC-5916),Pol2,CTCF Name=23 NA rs41277428 0.04 0.04 0.04 0.0295527 0.0755 NA 0.0202 0.0416 0.0031 0.09 NA 0.02 0.04 0.0609 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305763 NA NA 0.072791 0.054925 NA 0.08 NA 5.790809 1073 11 64950970 64950970 C T exonic CAPN1 NA synonymous SNV CAPN1:NM_001198868:exon4:c.C363T:p.I121I,CAPN1:NM_001198869:exon4:c.C363T:p.I121I,CAPN1:NM_005186:exon4:c.C363T:p.I121I exonic ENSG00000014216 NA synonymous SNV ENSG00000014216:ENST00000526468:exon1:c.C48T:p.I16I,ENSG00000014216:ENST00000527323:exon3:c.C363T:p.I121I,ENSG00000014216:ENST00000279247:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000524773:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000526954:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000526966:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000527699:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000527739:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000528396:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000529133:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000531068:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000533129:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000533820:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000533909:exon4:c.C363T:p.I121I,ENSG00000014216:ENST00000534373:exon5:c.C363T:p.I121I Score=596;Name=lod=352 NA 11q13.1 NA NA NA NA rs17583 0.26 0.26 0.223 0.244609 0.3012 0.2966 0.4035 0.053 0.2791 0.31 0.28 0.35 0.07 0.2898 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298739 NA NA 0.285139 0.091968 ID=COSM1355902;OCCURENCE=1(large_intestine) 0.29 NA 5.7905276 1073 4 88401616 88401616 A G exonic SPARCL1 NA synonymous SNV SPARCL1:NM_004684:exon9:c.T1725C:p.D575D,SPARCL1:NM_001128310:exon10:c.T1725C:p.D575D exonic ENSG00000152583 NA synonymous SNV ENSG00000152583:ENST00000282470:exon9:c.T1725C:p.D575D,ENSG00000152583:ENST00000418378:exon10:c.T1725C:p.D575D,ENSG00000152583:ENST00000503414:exon10:c.T1350C:p.D450D Score=583;Name=lod=312 NA 4q22.1 Score=886;Name=V$SOX9_B1 NA NA NA rs9933 0.7 0.7 0.677 0.747804 0.5964 0.631 0.7939 0.9017 0.7832 0.59 0.62 0.76 0.89 0.6714 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066237 NA NA 0.608605 0.85202 NA 0.739 NA 5.7902616 1073 11 372700 372700 G C exonic B4GALNT4 NA synonymous SNV B4GALNT4:NM_178537:exon3:c.G294C:p.G98G exonic ENSG00000182272 NA synonymous SNV ENSG00000182272:ENST00000329962:exon3:c.G294C:p.G98G NA NA 11p15.5 Score=747;Name=V$STAT3_01 NA NA NA rs35475866 0.34 0.34 0.284 0.330671 0.2952 0.3839 0.2997 0.3253 0.3415 0.3 0.43 0.32 0.31 0.3046 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187769 NA NA 0.277388 0.326782 ID=COSM1561414;OCCURENCE=1(large_intestine) 0.261 NA 5.7894786 1073 10 88441032 88441032 A G intronic LDB3 NA NA NA intronic ENSG00000122367 NA NA NA NA NA 10q23.2 NA Name=AP-2alpha,AP-2gamma Name=7 NA rs2675686 0.2 0.2 0.203 0.195887 0.2107 0.0625 0.2046 0.323 0.1401 0.2 0.07 0.26 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116259 NA NA NA NA NA 0.312 NA 5.7893 1073 2 10267211 10267211 T C intronic RRM2 NA NA NA intronic ENSG00000171848 NA NA NA Score=417;Name=lod=66 NA 2p25.1 NA Name=Pol2(b),GATA-1,Pol2 NA NA rs61754180 0.05 0.05 0.052 0.0527157 0.0676 0.0456 0.0749 0.0121 0.0838 0.07 0.05 0.07 0.02 0.0676 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009282 NA NA 0.076279 0.032456 NA 0.043 NA 5.788521 1073 7 149031681 149031681 A G intergenic LOC155060,ZNF777 dist=37278;dist=96773 NA NA ncRNA_exonic ENSG00000215311 NA NA NA Score=472;Name=lod=110 NA 7q36.1 NA Name=CTCF NA NA rs7785749 0.19 0.19 0.156 0.201078 0.2117 0.2232 0.3357 0.0151 0.3231 0.2 0.26 0.3 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.425315 1.425315 NA NA NA NA 0.109 NA 5.7883 1073 2 169721381 169721381 A G exonic NOSTRIN NA synonymous SNV NOSTRIN:NM_001171632:exon15:c.A1338G:p.G446G,NOSTRIN:NM_052946:exon15:c.A1188G:p.G396G,NOSTRIN:NM_001039724:exon16:c.A1422G:p.G474G,NOSTRIN:NM_001171631:exon21:c.A1593G:p.G531G exonic ENSG00000163072 NA synonymous SNV ENSG00000163072:ENST00000397206:exon15:c.A1188G:p.G396G,ENSG00000163072:ENST00000397209:exon15:c.A1338G:p.G446G,ENSG00000163072:ENST00000421711:exon15:c.A1338G:p.G446G,ENSG00000163072:ENST00000445023:exon15:c.A1188G:p.G396G,ENSG00000163072:ENST00000317647:exon16:c.A1422G:p.G474G,ENSG00000163072:ENST00000444448:exon19:c.A1593G:p.G531G,ENSG00000163072:ENST00000458381:exon21:c.A1593G:p.G531G Score=534;Name=lod=198 NA 2q31.1 NA NA NA NA rs3931 0.23 0.23 0.216 0.207268 0.2903 0.2688 0.1974 0.087 0.228 0.29 0.29 0.23 0.09 0.2712 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365913 1.365913 NA 0.317429 0.10032 NA 0.232 NA 5.7877376 1073 10 25312689 25312689 A G exonic THNSL1 NA synonymous SNV THNSL1:NM_024838:exon3:c.A537G:p.G179G exonic ENSG00000185875 NA synonymous SNV ENSG00000185875:ENST00000376356:exon3:c.A537G:p.G179G,ENSG00000185875:ENST00000524413:exon3:c.A537G:p.G179G Score=468;Name=lod=106 NA 10p12.1 NA NA NA NA rs4748997 0.31 0.31 0.271 0.307907 0.2714 0.4851 0.4308 0.0749 0.3906 0.27 0.49 0.4 0.08 0.323 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043791 NA NA 0.285 0.093055 NA 0.319 NA 5.7872666 1073 22 42221650 42221650 C T intronic CCDC134 NA NA NA intronic ENSG00000100147 NA NA NA NA NA 22q13.2 NA Name=Egr-1 Name=52 NA rs41281295 0.13 0.13 0.087 0.134385 0.1054 0.0645 0.3761 0.0666 0.1564 0.1 0.06 0.37 0.08 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48302 NA NA 0.107986 0.068493 NA 0.13 NA 5.786614 1073 1 96913449 96913449 C T intergenic FLJ31662,PTBP2 dist=968537;dist=273726 NA NA ncRNA_exonic ENSG00000228502 NA NA NA Score=869;Name=lod=4517 NA 1p21.3 NA Name=Pol2-4H8 NA NA rs11165631 0.2 0.2 0.187 0.176518 0.2137 0.3145 0.1527 0.1014 0.1145 0.22 0.29 0.17 0.09 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430751 NA NA NA NA NA 0.065 NA 5.7863 1073 1 96913490 96913490 G A intergenic FLJ31662,PTBP2 dist=968578;dist=273685 NA NA ncRNA_exonic ENSG00000228502 NA NA NA Score=869;Name=lod=4517 NA 1p21.3 NA Name=Pol2-4H8 NA NA rs11165632 0.2 0.2 0.163 0.176318 0.2137 0.3145 0.1527 0.1014 0.1135 0.22 0.29 0.17 0.09 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.075969 3.075969 NA NA NA NA 0.014 NA 5.7863 1073 5 179268779 179268779 C T intronic C5orf45 NA NA NA intronic ENSG00000161010 NA NA NA NA NA 5q35.3 NA Name=Pol2 Name=13 NA rs2303677 0.28 0.28 0.221 0.304113 0.2137 0.5099 0.4352 0.0658 0.4141 0.2 0.51 0.37 0.06 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456666 NA NA NA NA NA 0.145 NA 5.7863 1073 20 31897554 31897554 G C exonic BPIFB1 NA nonsynonymous SNV BPIFB1:NM_033197:exon16:c.G1436C:p.S479T exonic ENSG00000125999 NA nonsynonymous SNV ENSG00000125999:ENST00000253354:exon16:c.G1436C:p.S479T NA NA 20q11.21 NA NA NA NA rs1999663 0.67 0.67 0.691 0.675319 0.498 0.7669 0.5807 0.8018 0.6595 0.53 0.8 0.58 0.79 0.5652 0.8 1 T 0.001 B 0.001 B 0.008 N 1.000 P 1.39 L 3.92 T -0.947 T 0.000 T 0.011 -1.08 0.162 -1.88 -0.594 0.239 7.385 -1.080191 NA 1 0.484186 0.731049 NA 0.659 NA 5.7859474 1073 19 1036444 1036444 G A exonic CNN2 NA synonymous SNV CNN2:NM_201277:exon5:c.G420A:p.S140S,CNN2:NM_004368:exon6:c.G537A:p.S179S exonic ENSG00000064666 NA synonymous SNV ENSG00000064666:ENST00000348419:exon5:c.G420A:p.S140S,ENSG00000064666:ENST00000562075:exon5:c.G231A:p.S77S,ENSG00000064666:ENST00000568865:exon5:c.G408A:p.S136S,ENSG00000064666:ENST00000263097:exon6:c.G537A:p.S179S,ENSG00000064666:ENST00000562958:exon6:c.G600A:p.S200S,ENSG00000064666:ENST00000565096:exon6:c.G504A:p.S168S NA NA 19p13.3 NA Name=PAX5-N19,PAX5-C20,Pol2-4H8,Pol2 NA NA rs930231 0.18 0.18 0.163 0.169928 0.3002 0.0496 0.3646 0.0439 0.1922 0.29 0.05 0.35 0.07 0.2628 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.190881 NA NA 0.317907 0.091012 NA 0.341 NA 5.7857596 1073 8 31024638 31024638 C T exonic WRN NA synonymous SNV WRN:NM_000553:exon34:c.C4083T:p.S1361S exonic ENSG00000165392 NA synonymous SNV ENSG00000165392:ENST00000298139:exon34:c.C4083T:p.S1361S NA NA 8p12 NA NA NA NA rs1801196 0.27 0.27 0.275 0.273562 0.2942 0.2282 0.2536 0.2632 0.3272 0.31 0.26 0.23 0.27 0.2989 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998944 NA NA 0.288372 0.269859 NA 0.268 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118879.2;CLNDSDB=.;CLNDSDBID=. 5.7851946 1073 19 33579128 33579128 T C exonic GPATCH1 NA synonymous SNV GPATCH1:NM_018025:exon2:c.T162C:p.S54S exonic ENSG00000076650 NA synonymous SNV ENSG00000076650:ENST00000170564:exon2:c.T162C:p.S54S,ENSG00000076650:ENST00000592165:exon2:c.T162C:p.S54S Score=590;Name=lod=333 NA 19q13.11 NA NA NA NA rs7259333 0.44 0.44 0.486 0.533946 0.2416 0.5099 0.2867 0.8018 0.6728 0.25 0.5 0.3 0.78 0.371 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997472 NA NA 0.268953 0.72719 NA 0.449 NA 5.7851136 1074 3 126219627 126219627 G A exonic UROC1 NA synonymous SNV UROC1:NM_144639:exon11:c.C1056T:p.G352G,UROC1:NM_001165974:exon12:c.C1236T:p.G412G exonic ENSG00000159650 NA synonymous SNV ENSG00000159650:ENST00000290868:exon11:c.C1056T:p.G352G,ENSG00000159650:ENST00000383579:exon12:c.C1236T:p.G412G NA NA 3q21.3 NA NA NA NA rs34025926 0.2 0.2 0.203 0.216653 0.3091 0.005 0.2003 0.2602 0.2924 0.32 0.01 0.23 0.23 0.2606 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.983792 NA NA 0.312093 0.263731 NA 0.304 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118812.2;CLNDSDB=.;CLNDSDBID=. 5.7848736 1074 9 135983504 135983504 T C exonic RALGDS NA synonymous SNV RALGDS:NM_001042368:exon6:c.A903G:p.A301A,RALGDS:NM_001271774:exon6:c.A981G:p.A327A,RALGDS:NM_001271775:exon6:c.A1065G:p.A355A,RALGDS:NM_001271776:exon6:c.A1032G:p.A344A,RALGDS:NM_006266:exon6:c.A1068G:p.A356A exonic ENSG00000160271 NA synonymous SNV ENSG00000160271:ENST00000372047:exon6:c.A1032G:p.A344A,ENSG00000160271:ENST00000372050:exon6:c.A1068G:p.A356A,ENSG00000160271:ENST00000372062:exon6:c.A981G:p.A327A,ENSG00000160271:ENST00000393157:exon6:c.A1065G:p.A355A,ENSG00000160271:ENST00000393160:exon6:c.A903G:p.A301A,ENSG00000160271:ENST00000542690:exon11:c.A1281G:p.A427A NA NA 9q34.2 NA Name=SRF NA NA rs2285375 0.3 0.3 0.291 0.288938 0.2972 0.1577 0.353 0.4796 0.1125 0.29 0.17 0.38 0.42 0.2795 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053412 NA NA 0.305581 0.437358 NA 0.261 NA 5.7843856 1074 8 140769384 140769384 T C intronic TRAPPC9 NA NA NA intronic ENSG00000167632 NA NA NA Score=251;Name=lod=14 NA 8q24.3 NA Name=ZNF263 NA NA rs11783492 0.26 0.26 0.228 0.311502 0.2157 0.2262 0.317 0.4803 0.2658 0.2 0.19 0.29 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446201 NA NA NA NA NA NA NA 5.7843 1074 19 7998587 7998587 C T intronic TIMM44 NA NA NA intronic ENSG00000104980 NA NA NA NA NA 19p13.2 NA Name=Rad21,CTCF,ZBTB7A_(SC-34508),CTCF_(SC-5916) Name=3 NA rs78845055 0.1 0.1 0.084 0.0700879 0.2157 0.002 0.0865 0.0174 0.0501 0.21 0.0017 0.1 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096619 NA NA NA NA NA 0.101 NA 5.7843 1074 2 55404794 55404794 G A exonic CLHC1 NA nonsynonymous SNV CLHC1:NM_001135598:exon10:c.C1142T:p.A381V,CLHC1:NM_152385:exon12:c.C1508T:p.A503V exonic ENSG00000162994 NA nonsynonymous SNV ENSG00000162994:ENST00000406437:exon5:c.C161T:p.A54V,ENSG00000162994:ENST00000406076:exon10:c.C1142T:p.A381V,ENSG00000162994:ENST00000407122:exon11:c.C1508T:p.A503V,ENSG00000162994:ENST00000401408:exon12:c.C1508T:p.A503V NA NA 2p16.1 NA NA NA NA rs14026 0.5 0.5 0.498 0.469249 0.5179 0.4851 0.4683 0.4796 0.3896 0.52 0.53 0.49 0.45 0.5004 0.53 0.62 T 0.0 B 0.0 B 0.577 N 1.000 P -1.01 N 2.27 T -0.923 T 0.000 T 0.032 -0.693 0.994 1.85 0.427 0.430 3.594 -0.693036 NA 1 0.531628 0.471617 NA 0.471 NA 5.7834054 1074 17 12899963 12899963 T C exonic ELAC2 NA synonymous SNV ELAC2:NM_001165962:exon16:c.A1440G:p.T480T,ELAC2:NM_018127:exon17:c.A1560G:p.T520T,ELAC2:NM_173717:exon17:c.A1557G:p.T519T exonic ENSG00000006744 NA synonymous SNV ENSG00000006744:ENST00000426905:exon16:c.A1440G:p.T480T,ENSG00000006744:ENST00000338034:exon17:c.A1560G:p.T520T,ENSG00000006744:ENST00000395962:exon17:c.A1503G:p.T501T Score=548;Name=lod=226 NA 17p12 NA NA NA NA rs11545302 0.2 0.2 0.19 0.207268 0.3151 0.0347 0.2406 0.2057 0.2526 0.33 0.03 0.23 0.18 0.2716 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.485137 1.485137 NA 0.29686 0.217204 NA 0.174 NA 5.7831066 1074 5 140778256 140778256 G A exonic PCDHGB5 NA nonsynonymous SNV PCDHGB5:NM_018925:exon1:c.G562A:p.G188S,PCDHGB5:NM_032099:exon1:c.G562A:p.G188S intronic ENSG00000081853,ENSG00000204956,ENSG00000253485,ENSG00000253537,ENSG00000253731,ENSG00000253767,ENSG00000253910,ENSG00000253953,ENSG00000254221,ENSG00000254245,ENSG00000262209,ENSG00000262576 NA NA NA Score=329;Name=lod=29 NA 5q31.3 NA NA NA NA rs6867460 0.19 0.19 0.178 0.202875 0.1024 0.1548 0.1902 0.32 0.2065 0.11 0.17 0.18 0.32 0.1584 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549843 NA NA 0.122801 0.315733 NA 0.188 NA 5.7830657 1074 8 87494974 87494974 G C intronic RMDN1 NA NA NA ncRNA_exonic ENSG00000250569 NA NA NA NA NA 8q21.3 NA Name=CTCF_(C-20),CTCF Name=5 NA rs4961194 0.57 0.57 0.554 0.572883 0.5507 0.5823 0.6628 0.4932 0.6299 0.56 0.6 0.64 0.5 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.00949 NA NA NA NA NA 0.457 NA 5.7826333 1074 2 187626338 187626338 C T exonic FAM171B NA synonymous SNV FAM171B:NM_177454:exon8:c.C1269T:p.D423D exonic ENSG00000144369 NA synonymous SNV ENSG00000144369:ENST00000304698:exon8:c.C1269T:p.D423D Score=369;Name=lod=42 NA 2q32.1 NA NA NA NA rs13026081 0.17 0.17 0.147 0.165335 0.3171 0.0456 0.232 0.0113 0.2935 0.33 0.04 0.24 0.02 0.2624 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058055 NA NA 0.30456 0.057195 NA 0.123 NA 5.7826066 1074 1 119762593 119762593 G A intergenic WARS2,HAO2 dist=79298;dist=148809 NA NA ncRNA_exonic ENSG00000227056 NA NA NA Score=722;Name=lod=1150 NA 1p12 NA NA Name=2 NA rs12119474 0.16 0.16 0.147 0.18151 0.2177 0.0516 0.147 0.2027 0.274 0.22 0.05 0.17 0.2 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287212 NA NA NA NA NA 0.268 NA 5.7823 1074 18 2740714 2740714 A G exonic SMCHD1 NA synonymous SNV SMCHD1:NM_015295:exon28:c.A3528G:p.T1176T exonic ENSG00000101596 NA synonymous SNV ENSG00000101596:ENST00000577880:exon17:c.A1941G:p.T647T,ENSG00000101596:ENST00000261598:exon28:c.A3528G:p.T1176T,ENSG00000101596:ENST00000320876:exon28:c.A3528G:p.T1176T Score=544;Name=lod=216 NA 18p11.32 NA NA NA NA rs12327477 0.33 0.33 0.306 0.386182 0.2634 0.5228 0.4467 0.2685 0.4877 0.26 0.44 0.38 0.27 0.3382 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622347 NA NA 0.28293 0.263672 NA 0.348 NA 5.7821366 1074 9 22447655 22447655 T A exonic DMRTA1 NA synonymous SNV DMRTA1:NM_022160:exon1:c.T591A:p.G197G exonic ENSG00000176399 NA synonymous SNV ENSG00000176399:ENST00000325870:exon1:c.T591A:p.G197G NA NA 9p21.3 NA Name=Pol2,CTCF,AP-2alpha,AP-2gamma NA NA rs558612 0.31 0.31 0.291 0.311701 0.3022 0.2331 0.3963 0.3669 0.2679 0.3 0.24 0.39 0.36 0.3 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011603 NA NA 0.282543 0.331562 NA 0.297 NA 5.7819236 1074 22 19753379 19753379 C T intronic TBX1 NA NA NA intronic ENSG00000184058 NA NA NA NA NA 22q11.21 NA Name=Pol2-4H8,ZNF263,Egr-1,ELF1_(SC-631),Pol2,ZBTB33,E2F6_(H-50) Name=34 NA rs41298836 0.08 0.08 0.095 0.0754792 0.0547 NA 0.062 0.202 0.0133 0.06 NA 0.08 0.19 0.0953 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046984 NA NA 0.068251 0.181943 NA NA NA 5.781749 1074 9 35972227 35972227 C T intergenic OR2S2,RECK dist=14076;dist=64683 NA NA ncRNA_exonic ENSG00000213866 NA NA NA NA NA 9p13.3 NA Name=Egr-1 Name=8 NA rs1810653 0.26 0.26 0.254 0.312899 0.2187 0.1339 0.1744 0.593 0.3139 0.21 0.12 0.17 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.397168 1.397168 NA NA NA NA 0.29 NA 5.7813 1074 6 114378970 114378970 C T exonic HS3ST5 NA synonymous SNV HS3ST5:NM_153612:exon2:c.G492A:p.E164E exonic ENSG00000249853 NA synonymous SNV ENSG00000249853:ENST00000411826:exon2:c.G492A:p.E164E,ENSG00000249853:ENST00000312719:exon5:c.G492A:p.E164E Score=429;Name=lod=74 NA 6q21 NA NA NA NA rs2282237 0.3 0.3 0.274 0.301917 0.3032 0.3512 0.4265 0.1604 0.3528 0.29 0.34 0.4 0.2 0.2995 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500404 NA NA 0.282791 0.189741 ID=COSM150163;OCCURENCE=1(stomach) 0.37 NA 5.7811756 1074 3 175189447 175189447 G A exonic NAALADL2 NA synonymous SNV NAALADL2:NM_207015:exon9:c.G1554A:p.Q518Q exonic ENSG00000177694 NA synonymous SNV ENSG00000177694:ENST00000454872:exon9:c.G1554A:p.Q518Q Score=475;Name=lod=114 NA 3q26.31 Score=784;Name=V$HTF_01 NA NA NA rs9290555 0.59 0.59 0.548 0.547125 0.6402 0.6756 0.6585 0.3434 0.5153 0.65 0.69 0.65 0.33 0.6186 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583162 NA NA 0.62684 0.359444 NA 0.464 NA 5.7810266 1074 15 85198362 85198362 G T UTR3 NMB NM_021077:c.*243C>A,NM_205858:c.*139C>A NA NA UTR3 ENSG00000197696 ENST00000394588:c.*139C>A,ENST00000360476:c.*243C>A NA NA NA NA 15q25.2 Score=678;Name=V$P53_01 Name=CtBP2 NA NA rs1107179 0.71 0.71 0.711 0.726637 0.5527 0.8115 0.6902 0.8812 0.635 0.56 0.81 0.65 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.094377 NA NA NA NA NA 0.717 NA 5.7806334 1074 6 15511409 15511409 C T intronic JARID2 NA NA NA intronic ENSG00000008083 NA NA NA NA NA 6p22.3 NA Name=Pol2-4H8 Name=13 NA rs35360051 0.13 0.13 0.128 0.126198 0.2197 NA 0.1354 0.1611 0.1063 0.21 NA 0.16 0.15 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783552 NA NA NA NA NA 0.181 NA 5.7803 1074 6 31097301 31097301 C T intronic PSORS1C1 NA NA NA intronic ENSG00000204540 NA NA NA NA Name=Chronic obstructive pulmonary disease-related biomarkers 6p21.33 NA NA Name=7 NA rs3130559 0.31 0.31 0.308 0.31849 0.2197 0.3879 0.3458 0.3926 0.229 0.22 0.36 0.35 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.838176 NA NA NA NA NA 0.275 NA 5.7803 1074 9 18661848 18661848 T G intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA Name=STAT1,p300 Name=2 NA rs41268977 0.11 0.11 0.107 0.125998 0.2197 0.0625 0.1499 0.0129 0.2311 0.22 0.03 0.16 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.109471 4.109471 NA NA NA NA 0.058 NA 5.7803 1074 3 49714225 49714225 T C exonic APEH NA synonymous SNV APEH:NM_001640:exon9:c.T852C:p.Y284Y exonic ENSG00000164062 NA synonymous SNV ENSG00000164062:ENST00000442186:exon7:c.T627C:p.Y209Y,ENSG00000164062:ENST00000449966:exon7:c.T549C:p.Y183Y,ENSG00000164062:ENST00000457042:exon7:c.T705C:p.Y235Y,ENSG00000164062:ENST00000296456:exon9:c.T852C:p.Y284Y,ENSG00000164062:ENST00000438011:exon9:c.T852C:p.Y284Y Score=506;Name=lod=152 NA 3p21.31 NA NA NA NA rs1131095 0.23 0.23 0.216 0.202676 0.3241 0.0565 0.17 0.2413 0.1994 0.33 0.06 0.23 0.27 0.263 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415152 NA NA 0.299767 0.249887 ID=COSM149391;OCCURENCE=1(stomach) 0.312 NA 5.7797996 1074 15 41508037 41508037 A G intronic EXD1 NA NA NA intronic ENSG00000178997 NA NA NA NA NA 15q15.1 Score=901;Name=V$EVI1_06 NA Name=8 NA rs8025916 0.2 0.2 0.205 0.199481 0.0606 0.1746 0.1268 0.4614 0.0654 0.07 0.19 0.12 0.48 0.1062 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297866 NA NA 0.053605 0.384022 NA 0.21 NA 5.779595 1074 12 52403110 52403110 G A intronic GRASP NA NA NA intronic ENSG00000161835 NA NA NA NA NA 12q13.13 NA Name=c-Fos Name=10 NA rs10876227 0.24 0.24 0.228 0.260383 0.2207 0.4464 0.1081 0.1528 0.363 0.22 0.42 0.11 0.15 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.371817 NA NA NA NA NA 0.21 NA 5.7793 1074 20 25062145 25062145 C T intronic VSX1 NA NA NA intronic ENSG00000100987 NA NA NA NA NA 20p11.21 NA Name=CTCF,Rad21 Name=21 NA rs6050306 0.25 0.25 0.236 0.290535 0.2207 0.0268 0.3516 0.4992 0.3088 0.22 0.02 0.33 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440389 NA NA NA NA NA 0.152 NA 5.7793 1074 6 138027229 138027229 C T intergenic OLIG3,LOC100130476 dist=211698;dist=117578 NA NA ncRNA_exonic ENSG00000220412 NA NA NA Score=665;Name=lod=672 NA 6q23.3 NA Name=TCF4 NA NA rs472391 0.28 0.28 0.28 0.261382 0.2217 0.4315 0.1729 0.2655 0.184 0.23 0.43 0.15 0.29 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317388 NA NA NA NA NA 0.225 NA 5.7783 1074 22 36889930 36889930 A G intronic FOXRED2 NA NA NA intronic ENSG00000100350 NA NA NA NA NA 22q12.3 NA Name=NFKB,PAX5-C20,Max,ELF1_(SC-631),Pol2,IRF4_(M-17) Name=14 NA rs2281087 0.26 0.26 0.267 0.27516 0.2217 0.127 0.1484 0.5189 0.2434 0.22 0.15 0.16 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258905 NA NA NA NA NA 0.355 NA 5.7783 1074 14 25100247 25100247 T C UTR3 GZMB NM_004131:c.*30A>G NA NA ncRNA_UTR3 ENSG00000100453 NA NA NA NA NA 14q12 NA Name=FOXA1_(SC-101058),TCF4,FOXA1_(C-20) Name=33 NA rs2236337 0.27 0.27 0.27 0.288538 0.2455 0.2966 0.2089 0.32 0.3384 0.25 0.26 0.23 0.33 0.2437 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8365 NA NA 0.233837 0.3064 ID=COSN164650;OCCURENCE=1(breast) 0.268 NA 5.776963 1074 5 95234350 95234350 A G exonic ELL2 NA synonymous SNV ELL2:NM_012081:exon8:c.T1119C:p.P373P exonic ENSG00000118985 NA synonymous SNV ENSG00000118985:ENST00000237853:exon8:c.T1119C:p.P373P NA NA 5q15 Score=848;Name=V$CHOP_01 NA NA NA rs3777204 0.41 0.41 0.398 0.446685 0.2863 0.4643 0.3314 0.6263 0.4325 0.29 0.47 0.31 0.61 0.3342 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134058 NA NA 0.269302 0.568543 NA 0.413 NA 5.7768646 1074 17 26092631 26092631 A G exonic NOS2 NA synonymous SNV NOS2:NM_000625:exon20:c.T2358C:p.G786G exonic ENSG00000007171 NA synonymous SNV ENSG00000007171:ENST00000313735:exon20:c.T2358C:p.G786G Score=387;Name=lod=50 NA 17q11.2 Score=762;Name=V$MIF1_01 NA NA NA rs1060822 0.69 0.69 0.71 0.730831 0.6143 0.6706 0.6484 0.8071 0.8681 0.6 0.69 0.68 0.84 0.6637 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076472 NA NA 0.6119 0.776184 NA 0.848 NA 5.7767666 1074 5 137677224 137677224 C A intronic FAM53C NA NA NA intronic ENSG00000120709 NA NA NA NA NA 5q31.2 Score=777;Name=V$CDP_01 NA Name=4 NA rs2286060 0.33 0.33 0.336 0.325479 0.2237 0.5625 0.2363 0.3775 0.1789 0.22 0.55 0.2 0.35 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.447798 3.447798 NA NA NA NA 0.297 NA 5.7763 1074 6 152469331 152469331 C T exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon136:c.G24612A:p.P8204P,SYNE1:NM_182961:exon137:c.G24825A:p.P8275P exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000354674:exon8:c.G1290A:p.P430P,ENSG00000131018:ENST00000539504:exon8:c.G1290A:p.P430P,ENSG00000131018:ENST00000367257:exon17:c.G2763A:p.P921P,ENSG00000131018:ENST00000367251:exon22:c.G3591A:p.P1197P,ENSG00000131018:ENST00000356820:exon52:c.G8397A:p.P2799P,ENSG00000131018:ENST00000423061:exon136:c.G24612A:p.P8204P,ENSG00000131018:ENST00000265368:exon137:c.G24825A:p.P8275P,ENSG00000131018:ENST00000367255:exon137:c.G24825A:p.P8275P,ENSG00000131018:ENST00000448038:exon137:c.G24612A:p.P8204P,ENSG00000131018:ENST00000341594:exon138:c.G23661A:p.P7887P NA NA 6q25.1 NA NA NA NA rs2252748 0.31 0.31 0.275 0.339457 0.2833 0.2976 0.4597 0.3079 0.3978 0.27 0.27 0.46 0.29 0.313 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421867 NA NA 0.294419 0.313663 NA 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118467.2;CLNDSDB=.;CLNDSDBID=. 5.7759476 1074 19 4362691 4362691 G C exonic SH3GL1 NA synonymous SNV SH3GL1:NM_001199943:exon7:c.C627G:p.P209P,SH3GL1:NM_001199944:exon8:c.C579G:p.P193P,SH3GL1:NM_003025:exon8:c.C771G:p.P257P exonic ENSG00000141985 NA synonymous SNV ENSG00000141985:ENST00000417295:exon7:c.C627G:p.P209P,ENSG00000141985:ENST00000269886:exon8:c.C771G:p.P257P,ENSG00000141985:ENST00000598564:exon8:c.C579G:p.P193P Score=477;Name=lod=116 NA 19p13.3 NA NA NA NA rs243261 0.39 0.39 0.326 0.391573 0.2744 0.6042 0.4063 0.3434 0.3476 0.27 0.58 0.4 0.33 0.3346 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302136 NA NA 0.281744 0.341807 NA 0.29 NA 5.7759226 1074 14 100331876 100331876 T C exonic EML1 NA synonymous SNV EML1:NM_001008707:exon3:c.T276C:p.P92P,EML1:NM_004434:exon3:c.T276C:p.P92P exonic ENSG00000066629 NA synonymous SNV ENSG00000066629:ENST00000262233:exon3:c.T276C:p.P92P,ENSG00000066629:ENST00000327921:exon3:c.T183C:p.P61P,ENSG00000066629:ENST00000334192:exon3:c.T276C:p.P92P,ENSG00000066629:ENST00000553720:exon3:c.T219C:p.P73P,ENSG00000066629:ENST00000554479:exon3:c.T237C:p.P79P,ENSG00000066629:ENST00000555145:exon3:c.T237C:p.P79P,ENSG00000066629:ENST00000556199:exon3:c.T183C:p.P61P,ENSG00000066629:ENST00000556714:exon3:c.T183C:p.P61P,ENSG00000066629:ENST00000556835:exon3:c.T183C:p.P61P,ENSG00000066629:ENST00000556947:exon4:c.T294C:p.P98P Score=501;Name=lod=145 NA 14q32.2 NA NA NA NA rs11160553 0.21 0.21 0.182 0.183107 0.3082 0.1369 0.196 0.143 0.1472 0.32 0.12 0.22 0.13 0.2696 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.717256 1.717256 NA 0.313023 0.197685 NA 0.297 NA 5.7758436 1075 11 67205978 67205978 G A intronic CORO1B NA NA NA intronic ENSG00000172725 NA NA NA NA NA 11q13.2 Score=705;Name=V$LUN1_01 Name=CTCF,Pol2,CTCF_(C-20) Name=17 NA rs872375 0.4 0.4 0.368 0.354433 0.4165 0.3274 0.5389 0.326 0.226 0.43 0.32 0.51 0.37 0.3896 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.175931 NA NA 0.41952 0.317334 NA 0.435 NA 5.77438 1075 17 6981353 6981353 G C exonic CLEC10A NA synonymous SNV CLEC10A:NM_006344:exon3:c.C147G:p.L49L,CLEC10A:NM_182906:exon3:c.C147G:p.L49L exonic ENSG00000132514 NA synonymous SNV ENSG00000132514:ENST00000254868:exon3:c.C147G:p.L49L,ENSG00000132514:ENST00000416562:exon3:c.C147G:p.L49L,ENSG00000132514:ENST00000571664:exon3:c.C147G:p.L49L,ENSG00000132514:ENST00000576617:exon3:c.C147G:p.L49L Score=313;Name=lod=25 NA 17p13.1 NA NA NA NA rs732828 0.4 0.4 0.445 0.41234 0.2903 0.2669 0.2882 0.792 0.2628 0.29 0.3 0.27 0.78 0.3177 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543874 NA NA 0.284302 0.70177 NA 0.29 NA 5.7743646 1075 1 203831261 203831261 G A intronic SNRPE NA NA NA intronic ENSG00000182004 NA NA NA NA NA 1q32.1 NA Name=TBP,CEBPB,FOXA2_(SC-6554),Pol2,SP1,Sin3Ak-20,Pol2-4H8,TAF1,WHIP,FOXA1_(C-20) Name=38 NA rs11240609 0.08 0.08 0.084 0.0870607 0.1123 0.0387 0.0533 0.1301 0.0767 0.11 0.04 0.07 0.1 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248541 NA NA 0.113765 0.125 ID=COSN163401;OCCURENCE=1(breast) 0.072 NA 5.773935 1075 5 33441403 33441403 A C intronic TARS NA NA NA intronic ENSG00000113407 NA NA NA NA NA 5p13.3 NA Name=ELF1_(SC-631),NFKB,Max,c-Myc,TBP,GABP,ELK4,Pol2(b),E2F6_(H-50),ETS1,USF1_(SC-8983),Pol2-4H8,E2F6,Sin3Ak-20,YY1,Ini1,Egr-1,Pol2,NRSF Name=98 NA rs55759090 0.27 0.27 0.206 0.239816 0.2266 0.4653 0.2695 0.0915 0.2004 0.23 0.5 0.22 0.08 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258574 1.258574 NA NA NA NA 0.275 NA 5.7734 1075 5 169098265 169098265 C T intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA Name=YY1,PU.1,YY1_(C-20),NFKB,BATF Name=5 NA rs12656761 0.2 0.2 0.184 0.210463 0.2266 0.2847 0.17 0.0885 0.3108 0.22 0.28 0.2 0.09 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310389 NA NA NA NA NA 0.203 NA 5.7734 1075 1 19027239 19027239 A G exonic PAX7 NA synonymous SNV PAX7:NM_001135254:exon6:c.A879G:p.P293P,PAX7:NM_002584:exon6:c.A879G:p.P293P,PAX7:NM_013945:exon6:c.A873G:p.P291P exonic ENSG00000009709 NA synonymous SNV ENSG00000009709:ENST00000375375:exon6:c.A879G:p.P293P,ENSG00000009709:ENST00000400661:exon6:c.A873G:p.P291P,ENSG00000009709:ENST00000420770:exon6:c.A879G:p.P293P NA NA 1p36.13 Score=958;Name=V$IK2_01 NA NA NA rs2743201 0.44 0.44 0.408 0.488618 0.2575 0.6042 0.3876 0.643 0.4703 0.26 0.57 0.38 0.62 0.3747 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230863 NA NA 0.261163 0.588516 ID=COSM1473185,COSM424864;OCCURENCE=1(breast) 0.377 NA 5.7733036 1075 12 125834095 125834095 C A exonic TMEM132B NA synonymous SNV TMEM132B:NM_052907:exon2:c.C150A:p.S50S exonic ENSG00000139364 NA synonymous SNV ENSG00000139364:ENST00000299308:exon2:c.C150A:p.S50S Score=563;Name=lod=260 NA 12q24.31 NA NA NA NA rs1491893 0.27 0.27 0.246 0.274361 0.3012 0.2728 0.3458 0.1838 0.32 0.28 0.24 0.34 0.21 0.2979 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015477 NA NA 0.294451 0.203856 NA 0.239 NA 5.7731156 1075 2 130951548 130951548 G A exonic TUBA3E NA synonymous SNV TUBA3E:NM_207312:exon4:c.C867T:p.A289A exonic ENSG00000152086 NA synonymous SNV ENSG00000152086:ENST00000312988:exon4:c.C867T:p.A289A Score=700;Name=lod=929 NA 2q21.1 NA NA NA NA rs1052319 0.8 0.8 0.9 NA NA NA NA NA NA 0.83 0.91 0.83 0.61 0.8937 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715023 NA NA NA NA NA 0.761 NA 5.7729666 1075 8 135614972 135614972 A G exonic ZFAT NA synonymous SNV ZFAT:NM_001174157:exon5:c.T804C:p.Y268Y,ZFAT:NM_001167583:exon6:c.T954C:p.Y318Y,ZFAT:NM_001174158:exon6:c.T954C:p.Y318Y,ZFAT:NM_020863:exon6:c.T990C:p.Y330Y,ZFAT:NM_001029939:exon7:c.T954C:p.Y318Y exonic ENSG00000066827 NA synonymous SNV ENSG00000066827:ENST00000523399:exon5:c.T804C:p.Y268Y,ENSG00000066827:ENST00000377838:exon6:c.T990C:p.Y330Y,ENSG00000066827:ENST00000429442:exon6:c.T954C:p.Y318Y,ENSG00000066827:ENST00000520214:exon6:c.T954C:p.Y318Y,ENSG00000066827:ENST00000520356:exon6:c.T954C:p.Y318Y,ENSG00000066827:ENST00000523243:exon6:c.T990C:p.Y330Y,ENSG00000066827:ENST00000520727:exon7:c.T954C:p.Y318Y Score=461;Name=lod=100 NA 8q24.22 NA NA NA NA rs3739422 0.39 0.39 0.339 0.386581 0.2813 0.5476 0.3948 0.2859 0.4591 0.29 0.55 0.4 0.33 0.3397 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06818 NA NA 0.273201 0.248452 NA 0.232 NA 5.7724656 1075 4 62861941 62861941 G C intronic LPHN3 NA NA NA intronic ENSG00000150471 NA NA NA NA NA 4q13.1 NA Name=p300 Name=11 NA rs17226398 0.27 0.27 0.274 0.247005 0.2276 0.3393 0.2248 0.2254 0.2168 0.24 0.32 0.25 0.26 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140175 NA NA NA NA NA 0.174 NA 5.7724 1075 12 4735737 4735737 A G exonic AKAP3 NA synonymous SNV AKAP3:NM_006422:exon4:c.T2331C:p.L777L exonic ENSG00000111254 NA synonymous SNV ENSG00000111254:ENST00000228850:exon4:c.T2331C:p.L777L,ENSG00000111254:ENST00000545990:exon5:c.T2331C:p.L777L Score=567;Name=lod=270 NA 12p13.32 NA NA NA NA rs2072358 0.3 0.3 0.261 0.264177 0.3022 0.3621 0.3256 0.1475 0.2382 0.31 0.37 0.31 0.18 0.3005 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555253 NA NA 0.292791 0.160236 NA 0.341 NA 5.7711756 1075 14 64491695 64491695 T C exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon40:c.T5906C:p.M1969T,SYNE2:NM_182914:exon40:c.T5906C:p.M1969T exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000554584:exon39:c.T5906C:p.M1969T,ENSG00000054654:ENST00000344113:exon40:c.T5906C:p.M1969T,ENSG00000054654:ENST00000358025:exon40:c.T5906C:p.M1969T NA NA 14q23.2 NA NA NA NA rs4902264 0.72 0.72 0.673 0.678914 0.8757 0.7837 0.7824 0.3283 0.7689 0.87 0.8 0.78 0.34 0.8118 0.87 0.6 T 0.003 B 0.001 B 0.197 N 1.000 P 0.805 L 0.86 T -0.993 T 0.000 T 0.128 -0.191 3.072 -1.29 0.068 0.119 3.203 -0.190917 NA 0.38 0.874694 0.444024 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118541.1;CLNDSDB=.;CLNDSDBID=. 5.7711394 1075 2 173831934 173831934 C T intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA NA NA 2q31.1 NA Name=SP1,FOXA1_(C-20),p300,USF-1,BHLHE40,RXRA,FOXA1_(SC-101058) Name=2 NA rs16861098 0.18 0.18 0.176 0.162939 0.2296 0.1597 0.2233 0.053 0.2035 0.23 0.17 0.23 0.06 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0963 NA NA NA NA NA 0.13 NA 5.7704 1075 12 94634187 94634187 T C intronic PLXNC1 NA NA NA intronic ENSG00000136040 NA NA NA NA NA 12q22 NA Name=TBP,NFKB,PAX5-N19,RFX5_(N-494),Pol2-4H8,EBF1_(C-8),BATF,Max,Oct-2,SMC3_(ab9263),PU.1,Pol2,BCL11A,POU2F2 Name=15 NA rs66824619 0.2 0.2 0.177 0.178714 0.2306 0.0506 0.2262 0.2814 0.0849 0.24 0.07 0.22 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166495 NA NA NA NA NA 0.203 NA 5.7694 1075 6 25727265 25727265 C T exonic HIST1H2BA NA synonymous SNV HIST1H2BA:NM_170610:exon1:c.C129T:p.I43I exonic ENSG00000146047 NA synonymous SNV ENSG00000146047:ENST00000274764:exon1:c.C129T:p.I43I Score=543;Name=lod=214 NA 6p22.2 NA NA NA NA rs4712960 0.38 0.38 0.328 0.347045 0.2922 0.6825 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 0.3273 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948526 NA NA 0.278023 0.137313 NA 0.283 NA 5.7691436 1075 6 25727334 25727334 C T exonic HIST1H2BA NA synonymous SNV HIST1H2BA:NM_170610:exon1:c.C198T:p.S66S exonic ENSG00000146047 NA synonymous SNV ENSG00000146047:ENST00000274764:exon1:c.C198T:p.S66S Score=543;Name=lod=214 NA 6p22.2 NA NA NA NA rs4712961 0.38 0.38 0.33 0.347045 0.2922 0.6825 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 0.3273 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.967043 NA NA 0.278023 0.137313 NA 0.283 NA 5.7691436 1075 19 38935280 38935280 A G exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon7:c.A594G:p.L198L,RYR1:NM_001042723:exon7:c.A594G:p.L198L exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon7:c.A594G:p.L198L,ENSG00000196218:ENST00000359596:exon7:c.A594G:p.L198L,ENSG00000196218:ENST00000360985:exon7:c.A594G:p.L198L Score=614;Name=lod=417 NA 19q13.2 NA NA NA NA rs2229139 0.6 0.6 0.578 0.543331 0.6471 0.6121 0.6571 0.475 0.3773 0.64 0.62 0.67 0.48 0.6074 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767605 NA NA 0.643372 0.524285 NA 0.638 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079154.1|RCV000119644.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.7687946 1075 4 47408709 47408709 A G exonic GABRB1 NA synonymous SNV GABRB1:NM_000812:exon8:c.A846G:p.T282T exonic ENSG00000163288 NA synonymous SNV ENSG00000163288:ENST00000538619:exon7:c.A636G:p.T212T,ENSG00000163288:ENST00000295454:exon8:c.A846G:p.T282T NA Name=Obesity-related traits 4p12 NA NA NA NA rs6289 0.22 0.22 0.228 0.209864 0.3062 0.0179 0.1873 0.3064 0.1943 0.31 0.03 0.22 0.31 0.2607 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776605 NA NA 0.331395 0.274626 NA 0.29 NA 5.7683716 1075 11 6502727 6502727 C G UTR5 TIMM10B NM_012192:c.-20C>G NA NA UTR5 ENSG00000132286,ENSG00000265264 ENST00000254616:c.-20C>G;ENST00000464330:c.-20C>G NA NA NA NA 11p15.4 NA Name=Sin3Ak-20,Pol2-4H8,RFX5_(N-494),YY1,ELK4,JunD,FOSL2,TBP,IRF1,Nrf1,USF-1,PAX5-N19,SREBP2,PAX5-C20,SRF,c-Myc,CCNT2,NFKB,HEY1,BRCA1_(C-1863),YY1_(C-20),TR4,eGFP-JunD,E2F6,SP1,Mxi1_(bHLH),PU.1,Pol2,Pol2(phosphoS2),POU2F2,ZBTB33,HMGN3,GABP,E2F6_(H-50),SREBP1,TAF1,GATA-1,SP2_(SC-643),CHD2_(N-1250),GTF2F1_(RAP-74),Oct-2,Max,ELF1_(SC-631) Name=148 NA rs11604726 0.17 0.17 0.196 0.1877 0.1859 0.0327 0.1744 0.2852 0.227 0.19 0.04 0.15 0.29 0.1838 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817532 NA NA 0.195414 0.258973 NA 0.304 NA 5.7682194 1075 3 135774219 135774219 T C intronic PPP2R3A NA NA NA ncRNA_exonic ENSG00000227267 NA NA NA Score=661;Name=lod=645 NA 3q22.3 NA Name=NRSF NA NA rs3946444 0.55 0.55 0.582 0.588858 0.5656 0.2262 0.4424 0.9569 0.593 0.57 0.25 0.47 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030139 NA NA NA NA NA 0.652 NA 5.7677333 1075 6 25726675 25726675 G A exonic HIST1H2AA NA synonymous SNV HIST1H2AA:NM_170745:exon1:c.C81T:p.P27P exonic ENSG00000164508 NA synonymous SNV ENSG00000164508:ENST00000297012:exon1:c.C81T:p.P27P NA NA 6p22.2 NA Name=CHD2_(N-1250),HEY1,Pol2-4H8,E2F6_(H-50) NA NA rs9358871 0.38 0.38 0.325 0.346845 0.2922 0.6815 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 0.3287 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499635 NA NA 0.27814 0.136859 NA 0.275 NA 5.7676266 1075 19 41712113 41712113 C G intronic CYP2S1 NA NA NA intronic ENSG00000167600 NA NA NA NA NA 19q13.2 NA Name=Rad21,CTCF Name=22 NA rs338584 0.28 0.28 0.278 0.282149 0.2326 0.1954 0.1801 0.528 0.1626 0.23 0.18 0.26 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401946 NA NA NA NA NA 0.333 NA 5.7674 1075 13 75884216 75884216 C T exonic TBC1D4 NA nonsynonymous SNV TBC1D4:NM_014832:exon14:c.G2455A:p.V819I exonic ENSG00000136111 NA nonsynonymous SNV ENSG00000136111:ENST00000413735:exon7:c.G802A:p.V268I,ENSG00000136111:ENST00000377625:exon12:c.G2266A:p.V756I,ENSG00000136111:ENST00000431480:exon13:c.G2431A:p.V811I,ENSG00000136111:ENST00000377636:exon14:c.G2455A:p.V819I,ENSG00000136111:ENST00000425511:exon14:c.G106A:p.V36I NA NA 13q22.2 NA NA NA NA rs1062087 0.72 0.72 0.721 0.711861 0.8579 0.7956 0.6643 0.3979 0.9335 0.86 0.79 0.69 0.45 0.8256 0.88 0.34 T 0.0 B 0.001 B 0.002 N 1.000 P -1.245 N 4.09 T -1.027 T 0.000 T 0.099 0.813 8.27 1.89 0.143 0.019 0.181 0.813047 NA 0.99 0.883732 0.504292 NA 0.819 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118589.2;CLNDSDB=.;CLNDSDBID=. 5.7661014 1075 1 228402047 228402047 A G exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon4:c.A1431G:p.L477L,ENSG00000154358:ENST00000422127:exon4:c.A1431G:p.L477L,ENSG00000154358:ENST00000570156:exon4:c.A1431G:p.L477L Score=412;Name=lod=63 NA 1q42.13 NA NA Name=2 NA rs1620111 0.7 0.7 0.713 0.719848 0.6372 0.8244 0.6427 0.6808 0.8047 0.64 0.83 0.62 0.72 0.6544 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013686 NA NA 0.609493 0.672123 ID=COSM1339494,COSM1339492,COSM1339493;OCCURENCE=1(large_intestine) 0.652 NA 5.7655736 1075 11 71276831 71276831 C G exonic KRTAP5-10 NA synonymous SNV KRTAP5-10:NM_001012710:exon1:c.C198G:p.S66S exonic ENSG00000204572 NA synonymous SNV ENSG00000204572:ENST00000376536:exon1:c.C198G:p.S66S,ENSG00000204572:ENST00000398531:exon1:c.C198G:p.S66S Score=355;Name=lod=37 NA 11q13.4 NA NA NA NA rs71473841 0.49 0.49 0.361 0.472045 0.4503 0.5754 0.5735 0.5008 0.2771 0.42 0.56 0.54 0.49 0.4513 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.351366 NA NA NA NA NA 0.319 NA 5.7650666 1076 17 33330150 33330150 A C UTR3 LIG3 NM_002311:c.*83A>C NA NA UTR3 ENSG00000005156 ENST00000262327:c.*83A>C NA NA NA NA 17q12 NA Name=Pol2 Name=49 NA rs4796030 0.6 0.6 0.605 0.616014 0.5686 0.4603 0.4741 0.8933 0.5511 0.59 0.41 0.49 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470208 NA NA NA NA NA 0.674 NA 5.7647334 1076 15 85452095 85452095 C T intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA Name=ZNF263 Name=6 NA rs2305365 0.26 0.26 0.228 0.304313 0.2356 0.3075 0.3617 0.1755 0.5051 0.24 0.28 0.34 0.18 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681688 NA NA NA NA NA 0.297 NA 5.7644 1076 6 25727517 25727517 G A exonic HIST1H2BA NA synonymous SNV HIST1H2BA:NM_170610:exon1:c.G381A:p.K127K exonic ENSG00000146047 NA synonymous SNV ENSG00000146047:ENST00000274764:exon1:c.G381A:p.K127K Score=489;Name=lod=130 NA 6p22.2 NA NA NA NA rs9358872 0.38 0.38 0.338 0.347045 0.2922 0.6825 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 0.3324 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294687 NA NA 0.277907 0.137313 NA 0.283 NA 5.7641596 1076 8 97172487 97172487 G T intronic GDF6 NA NA NA intronic ENSG00000156466 NA NA NA NA NA 8q22.1 NA Name=SUZ12 Name=61 NA rs62516290 0.04 0.04 0.029 0.0307508 0.0845 NA 0.0562 0.0182 0.0061 0.08 NA 0.07 0.01 0.0623 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260561 1.260561 NA 0.089884 0.029278 NA 0.065 NA 5.763316 1076 3 58154327 58154327 C T exonic FLNB NA synonymous SNV FLNB:NM_001164319:exon43:c.C7287T:p.S2429S,FLNB:NM_001164318:exon44:c.C7326T:p.S2442S,FLNB:NM_001457:exon44:c.C7359T:p.S2453S,FLNB:NM_001164317:exon45:c.C7452T:p.S2484S exonic ENSG00000136068 NA synonymous SNV ENSG00000136068:ENST00000493452:exon42:c.C6780T:p.S2260S,ENSG00000136068:ENST00000348383:exon43:c.C7236T:p.S2412S,ENSG00000136068:ENST00000358537:exon43:c.C7287T:p.S2429S,ENSG00000136068:ENST00000419752:exon43:c.C6819T:p.S2273S,ENSG00000136068:ENST00000295956:exon44:c.C7359T:p.S2453S,ENSG00000136068:ENST00000429972:exon44:c.C7326T:p.S2442S,ENSG00000136068:ENST00000490882:exon45:c.C7452T:p.S2484S NA NA 3p14.3 NA Name=Pol2(b),TCF4 NA NA rs8640 0.53 0.53 0.531 0.571286 0.2664 0.9216 0.4597 0.5719 0.6022 0.27 0.91 0.41 0.55 0.3852 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485507 NA NA 0.251977 0.50227 NA 0.471 NA 5.7630896 1076 17 2185827 2185827 T A intronic SMG6 NA NA NA intronic ENSG00000070366 NA NA NA NA NA 17p13.3 NA Name=Rad21,CTCF,CEBPB,SMC3_(ab9263),CTCF_(C-20),p300_(N-15),JunD,CTCF_(SC-5916) Name=138 NA rs9899330 0.16 0.16 0.163 0.129593 0.2386 0.0327 0.1398 0.1619 0.0665 0.25 0.03 0.15 0.21 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49722 NA NA NA NA NA 0.196 NA 5.7614 1076 3 133331230 133331230 C T intronic TOPBP1 NA NA NA intronic ENSG00000163781 NA NA NA Score=422;Name=lod=69 NA 3q22.1 Score=936;Name=V$AREB6_02 NA NA NA rs71317417 0.07 0.07 0.078 0.066893 0.0865 0.0437 0.062 0.0946 0.0368 0.08 0.05 0.07 0.08 0.0677 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.783633 1.783633 NA 0.085091 0.078462 NA 0.094 NA 5.760709 1076 8 66525548 66525548 T C exonic ARMC1 NA synonymous SNV ARMC1:NM_018120:exon4:c.A396G:p.Q132Q exonic ENSG00000104442 NA synonymous SNV ENSG00000104442:ENST00000276569:exon4:c.A396G:p.Q132Q,ENSG00000104442:ENST00000518908:exon4:c.A396G:p.Q132Q Score=718;Name=lod=1101 NA 8q13.1 NA NA NA NA rs11559265 0.29 0.29 0.267 0.25619 0.3002 0.379 0.3228 0.0877 0.2648 0.29 0.45 0.32 0.1 0.2921 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139501 NA NA 0.313721 0.123014 NA 0.261 NA 5.7606456 1076 19 5692311 5692311 G C intronic LONP1 NA NA NA intronic ENSG00000196365 NA NA NA NA NA 19p13.3 NA Name=Pol2(b),Ini1,Pol2-4H8 Name=129 NA rs3818815 0.19 0.19 0.178 0.178514 0.2396 0.0903 0.2536 0.1929 0.1339 0.22 0.09 0.23 0.21 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272006 NA NA NA NA NA 0.225 NA 5.7604 1076 5 149499672 149499672 T C exonic PDGFRB NA synonymous SNV PDGFRB:NM_002609:exon19:c.A2601G:p.L867L exonic ENSG00000113721 NA synonymous SNV ENSG00000113721:ENST00000261799:exon19:c.A2601G:p.L867L Score=478;Name=lod=117 NA 5q32 NA NA NA NA rs246395 0.23 0.23 0.215 0.236422 0.2903 0.1538 0.2997 0.1528 0.3344 0.3 0.15 0.29 0.16 0.2871 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082033 NA NA 0.329419 0.186564 ID=COSM149995;OCCURENCE=1(stomach) 0.217 NA 5.7598476 1076 17 44344988 44344988 C G intergenic KANSL1,LRRC37A dist=42248;dist=27509 NA NA ncRNA_intronic ENSG00000261575 NA NA NA NA NA 17q21.31 NA Name=FOXA1_(C-20),ZEB1_(SC-25388) Name=148 NA rs2732650 0.12 0.12 0.144 0.0866613 0.2406 0.001 0.1556 0.0159 0.0634 0.23 0.0035 0.19 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241801 NA NA NA NA NA 0.109 NA 5.7594 1076 12 7043486 7043486 C T intronic ATN1 NA NA NA intronic ENSG00000111676 NA NA NA Score=507;Name=lod=153 NA 12p13.31 NA NA Name=62 NA rs2071075 0.15 0.15 0.148 0.13778 0.0835 0.4296 0.0375 0.003 0.1462 0.08 0.44 0.04 0.002 0.0906 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.984974 1.984974 NA 0.06686 0.016341 NA 0.167 NA 5.75904 1076 19 22235307 22235307 C G UTR5 ZNF257 NM_033468:c.-128C>G NA NA UTR5 ENSG00000197134 ENST00000435820:c.-128C>G,ENST00000597927:c.-35474C>G,ENST00000594363:c.-128C>G,ENST00000594947:c.-128C>G NA NA NA NA 19p12 NA Name=c-Fos,HEY1,TBP,NF-YA,TAF1,Pol2,NF-YB,ELF1_(SC-631) Name=99 NA rs415291 0.56 0.56 0.512 0.497804 0.5746 0.5456 0.6297 0.4584 0.3292 0.59 0.58 0.57 0.48 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708472 NA NA NA NA NA 0.536 NA 5.7587334 1076 19 33584479 33584479 G A intronic GPATCH1 NA NA NA intronic ENSG00000076650 NA NA NA NA NA 19q13.11 NA Name=eGFP-GATA2,eGFP-JunD Name=2 NA rs12460195 0.44 0.44 0.461 0.533347 0.2416 0.5089 0.2867 0.8003 0.6728 0.25 0.5 0.3 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089575 NA NA NA NA NA 0.449 NA 5.7584 1076 1 12854530 12854530 C G exonic PRAMEF1 NA nonsynonymous SNV PRAMEF1:NM_023013:exon3:c.C754G:p.Q252E exonic ENSG00000116721 NA nonsynonymous SNV ENSG00000116721:ENST00000332296:exon3:c.C754G:p.Q252E NA NA 1p36.21 NA NA NA NA rs1063776 0.87 0.87 0.88 0.867212 0.8638 0.7986 0.8919 0.9259 0.8446 0.87 0.8 0.89 0.92 0.8553 0.92 1 T 0.0 B 0.001 B 0.560 N 1.000 P -0.275 N 5.57 T -1.000 T 0.000 T 0.087 -2.798 0 -0.476 -1.065 -3.001 . -2.797543 NA 1 0.856013 0.905583 NA 0.029 NA 5.7582204 1076 17 79163649 79163649 G A intronic AZI1 NA NA NA exonic ENSG00000141577 NA unknown UNKNOWN NA NA 17q25.3 NA Name=SMC3_(ab9263),Rad21,CTCF,CTCF_(SC-5916) Name=22 NA rs2292182 0.17 0.17 0.159 0.202276 0.2406 0.1925 0.147 0.0552 0.411 0.24 0.17 0.17 0.07 0.2438 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057024 NA NA 0.257558 0.090331 NA 0.123 NA 5.758042 1076 3 156695609 156695609 T A intronic LEKR1 NA NA NA ncRNA_exonic ENSG00000241879 NA NA NA Score=690;Name=lod=851 NA 3q25.31 NA NA Name=2 NA rs1384538 0.56 0.56 0.516 0.536941 0.5755 0.744 0.6412 0.2337 0.6196 0.56 0.73 0.67 0.27 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984354 NA NA NA NA NA 0.522 NA 5.7578333 1076 22 17662793 17662793 A G exonic CECR1 NA synonymous SNV CECR1:NM_177405:exon6:c.T636C:p.Y212Y,CECR1:NM_017424:exon8:c.T1359C:p.Y453Y exonic ENSG00000093072 NA synonymous SNV ENSG00000093072:ENST00000330232:exon6:c.T636C:p.Y212Y,ENSG00000093072:ENST00000262607:exon8:c.T1359C:p.Y453Y,ENSG00000093072:ENST00000399837:exon9:c.T1359C:p.Y453Y,ENSG00000093072:ENST00000399839:exon9:c.T1359C:p.Y453Y,ENSG00000093072:ENST00000449907:exon9:c.T1233C:p.Y411Y Score=522;Name=lod=177 NA 22q11.1 NA NA NA NA rs7289170 0.22 0.22 0.224 0.191893 0.3211 0.0456 0.2003 0.239 0.1401 0.32 0.04 0.24 0.24 0.2565 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.133972 NA NA 0.332442 0.242851 NA 0.181 NA 5.7566246 1076 11 36453506 36453506 T C intronic PRR5L NA NA NA intronic ENSG00000135362 NA NA NA Score=309;Name=lod=24 NA 11p12 NA Name=Pol2,SMC3_(ab9263),TCF4,eGFP-JunD,USF2,CTCF,p300,FOSL1_(SC-183),GR,Rad21,c-Jun,c-Fos,Pol2-4H8,FOSL2,p300_(N-15),USF-1,eGFP-FOS Name=123 NA rs746761 0.49 0.49 0.49 0.522963 0.4125 0.6181 0.4135 0.5885 0.5276 0.41 0.62 0.38 0.57 0.4389 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.142183 NA NA 0.392973 0.550636 NA 0.428 NA 5.755627 1076 10 33484577 33484577 C T intronic NRP1 NA NA NA intronic ENSG00000099250 NA NA NA NA NA 10p11.22 NA Name=c-Fos,JunD,USF-1,p300 Name=84 NA rs2474724 0.36 0.36 0.355 0.338858 0.2445 0.6399 0.1974 0.239 0.3609 0.23 0.72 0.21 0.25 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.275347 1.275347 NA NA NA NA 0.254 NA 5.7555 1076 17 79936986 79936986 T C intronic ASPSCR1 NA NA NA intronic ENSG00000169696 NA NA NA NA NA 17q25.3 NA Name=MafK_(ab50322),USF-1,HNF4A_(H-171),RXRA,BHLHE40,MafF_(M8194),MafK_(SC-477),Pol2,TCF4 Name=2 NA rs55671960 0.13 0.13 0.111 0.100839 0.2445 0.0149 0.1239 0.0401 0.1074 0.25 0.01 0.16 0.04 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.246115 NA NA NA NA NA 0.152 NA 5.7555 1076 17 35346641 35346641 T C exonic AATF NA synonymous SNV AATF:NM_012138:exon7:c.T1245C:p.S415S exonic ENSG00000108270 NA synonymous SNV ENSG00000108270:ENST00000589579:exon2:c.T159C:p.S53S,ENSG00000108270:ENST00000225402:exon7:c.T1245C:p.S415S Score=605;Name=lod=384 NA 17q12 NA NA NA NA rs1045056 0.18 0.18 0.186 0.156749 0.3419 0.0357 0.1542 0.0628 0.2198 0.35 0.04 0.19 0.08 0.2519 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092574 NA NA 0.317791 0.096232 NA 0.283 NA 5.7550756 1076 1 35654765 35654765 G A intronic SFPQ NA NA NA intronic ENSG00000116560 NA NA NA NA NA 1p34.3 NA Name=Pol2-4H8,HEY1 Name=4 NA rs2088481 0.39 0.39 0.378 0.39397 0.0427 0.6677 0.3963 0.6188 0.1677 0.04 0.69 0.31 0.62 0.1774 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827822 NA NA 0.024884 0.538584 NA 0.268 NA 5.755016 1077 9 127951863 127951863 G A exonic PPP6C NA synonymous SNV PPP6C:NM_001123355:exon1:c.C135T:p.F45F exonic ENSG00000119414 NA synonymous SNV ENSG00000119414:ENST00000451402:exon1:c.C135T:p.F45F NA NA 9q33.3 NA Name=Pol2,YY1_(C-20),YY1,Pol2-4H8,HA-E2F1,TBP NA NA rs466994 0.45 0.45 0.408 0.455072 0.4513 0.5417 0.3473 0.4682 0.4284 0.42 0.55 0.38 0.42 0.4605 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576902 NA NA NA NA ID=COSM455349;OCCURENCE=1(breast) 0.442 NA 5.7548666 1077 11 47303275 47303275 T C exonic MADD NA synonymous SNV MADD:NM_001135943:exon8:c.T1440C:p.N480N,MADD:NM_001135944:exon8:c.T1440C:p.N480N,MADD:NM_003682:exon8:c.T1440C:p.N480N,MADD:NM_130470:exon8:c.T1440C:p.N480N,MADD:NM_130471:exon8:c.T1440C:p.N480N,MADD:NM_130472:exon8:c.T1440C:p.N480N,MADD:NM_130473:exon8:c.T1440C:p.N480N,MADD:NM_130474:exon8:c.T1440C:p.N480N,MADD:NM_130475:exon8:c.T1440C:p.N480N,MADD:NM_130476:exon8:c.T1440C:p.N480N exonic ENSG00000110514 NA synonymous SNV ENSG00000110514:ENST00000311027:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000342922:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000349238:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000395336:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000395344:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000402192:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000402799:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000406482:exon8:c.T1440C:p.N480N,ENSG00000110514:ENST00000407859:exon8:c.T1440C:p.N480N Score=576;Name=lod=293 NA 11p11.2 NA NA NA NA rs326217 0.31 0.31 0.272 0.296126 0.3042 0.252 0.4352 0.2481 0.2996 0.3 0.28 0.38 0.3 0.3014 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008258 NA NA 0.306538 0.242163 NA 0.449 NA 5.7545286 1077 4 70047486 70047486 C T intergenic UGT2B7,UGT2B11 dist=68781;dist=18565 NA NA ncRNA_exonic ENSG00000196472 NA NA NA Score=395;Name=lod=54 NA 4q13.2 NA Name=FOXA1_(C-20) NA NA rs79124684 0.32 0.32 0.249 0.342252 0.2455 0.4692 0.2795 0.3336 0.3671 0.23 0.48 0.26 0.32 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.682043 1.682043 NA NA NA NA 0.014 NA 5.7545 1077 1 38411445 38411445 G A exonic INPP5B NA synonymous SNV INPP5B:NM_005540:exon3:c.C135T:p.H45H exonic ENSG00000204084 NA synonymous SNV ENSG00000204084:ENST00000373021:exon2:c.C135T:p.H45H,ENSG00000204084:ENST00000373026:exon2:c.C135T:p.H45H,ENSG00000204084:ENST00000373023:exon3:c.C135T:p.H45H,ENSG00000204084:ENST00000373024:exon3:c.C135T:p.H45H NA NA 1p34.3 NA Name=ZBTB7A_(SC-34508),HMGN3 NA NA rs871524 0.24 0.24 0.22 0.201877 0.3181 0.2401 0.2262 0.0431 0.2403 0.34 0.27 0.23 0.05 0.2858 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487886 NA NA 0.308701 0.084456 NA 0.319 NA 5.7540656 1077 10 117486910 117486910 T G intronic ATRNL1 NA NA NA intronic ENSG00000107518 NA NA NA Score=595;Name=lod=348 NA 10q25.3 NA Name=GATA-2 Name=2 NA rs2286631 0.47 0.47 0.444 0.460264 0.3966 0.7768 0.572 0.1558 0.5317 0.43 0.77 0.51 0.17 0.4604 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.732971 3.732971 NA 0.38907 0.212438 NA 0.442 NA 5.75393 1077 1 35654777 35654777 G A intronic SFPQ NA NA NA intronic ENSG00000116560 NA NA NA NA NA 1p34.3 NA Name=Pol2-4H8,HEY1 Name=4 NA rs2088482 0.39 0.39 0.388 0.398163 0.0427 0.6677 0.3991 0.6331 0.1677 0.04 0.69 0.31 0.63 0.1785 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108462 NA NA 0.024884 0.54857 NA 0.268 NA 5.753916 1077 12 55806134 55806134 T C intergenic OR6C65,OR6C76 dist=10883;dist=13904 NA NA ncRNA_exonic ENSG00000179899 NA NA NA NA NA 12q13.2 NA Name=TAL1_(SC-12984),Egr-1,USF-1,GATA2_(CG2-96) Name=2 NA rs12833263 0.2 0.2 0.175 0.214058 0.2465 0.1081 0.2435 0.1861 0.3067 0.26 0.09 0.24 0.2 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342539 NA 0.34 NA NA NA 0.21 NA 5.7535 1077 8 73848139 73848139 A T intronic KCNB2 NA NA NA intronic ENSG00000182674 NA NA NA NA NA 8q13.3 NA Name=MafK_(ab50322),MafK_(SC-477) Name=2 NA rs3735829 0.29 0.29 0.253 0.304712 0.0417 0.7907 0.3112 0.1089 0.3344 0.04 0.8 0.25 0.11 0.1667 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.899701 2.899701 NA 0.038256 0.091466 NA 0.174 NA 5.753344 1077 7 64030116 64030116 C T intergenic ZNF680,LOC100128885 dist=6611;dist=4957 NA NA ncRNA_exonic ENSG00000213642 NA NA NA Score=467;Name=lod=105 NA 7q11.21 NA Name=CTCF NA NA rs1446886 0.21 0.21 0.183 0.21905 0.2475 0.0833 0.2219 0.2209 0.3252 0.27 0.09 0.23 0.24 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426682 NA NA NA NA NA 0.167 NA 5.7525 1077 3 10413715 10413715 G A exonic ATP2B2 NA synonymous SNV ATP2B2:NM_001683:exon9:c.C1302T:p.N434N,ATP2B2:NM_001001331:exon12:c.C1437T:p.N479N exonic ENSG00000157087 NA synonymous SNV ENSG00000157087:ENST00000452124:exon8:c.C1005T:p.N335N,ENSG00000157087:ENST00000383800:exon9:c.C1302T:p.N434N,ENSG00000157087:ENST00000460129:exon9:c.C1302T:p.N434N,ENSG00000157087:ENST00000343816:exon11:c.C1395T:p.N465N,ENSG00000157087:ENST00000352432:exon11:c.C1437T:p.N479N,ENSG00000157087:ENST00000397077:exon11:c.C1302T:p.N434N,ENSG00000157087:ENST00000360273:exon12:c.C1437T:p.N479N Score=542;Name=lod=212 NA 3p25.3 NA NA NA NA rs2289274 0.25 0.25 0.205 0.276957 0.3002 0.3323 0.3256 0.1324 0.3569 0.29 0.28 0.31 0.12 0.3052 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067886 NA NA 0.308837 0.15842 ID=COSM149337;OCCURENCE=1(stomach) 0.377 NA 5.7524296 1077 8 8234077 8234077 G C exonic SGK223 NA synonymous SNV SGK223:NM_001080826:exon2:c.C1842G:p.A614A exonic ENSG00000182319 NA synonymous SNV ENSG00000182319:ENST00000330777:exon2:c.C1842G:p.A614A,ENSG00000182319:ENST00000520004:exon3:c.C1842G:p.A614A NA NA 8p23.1 NA Name=Pol2,MafK_(ab50322) NA NA rs4840952 0.41 0.41 0.408 0.425719 0.2783 0.6409 0.4222 0.3064 0.5194 0.27 0.68 0.38 0.33 0.3621 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181762 NA NA 0.274626 0.289501 NA 0.355 NA 5.7516406 1077 1 242223171 242223171 G A intergenic MAP1LC3C,PLD5 dist=60786;dist=28518 NA NA ncRNA_exonic ENSG00000224625 NA NA NA Score=841;Name=lod=3496 NA 1q43 NA Name=YY1_(C-20) NA NA rs908969 0.24 0.24 0.249 0.229633 0.2485 0.25 0.2752 0.2163 0.1748 0.23 0.25 0.26 0.23 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05201 NA NA NA NA NA 0.217 NA 5.7515 1077 6 29069264 29069264 T C intergenic OR2B3,OR2J3 dist=14174;dist=10404 NA NA exonic ENSG00000204702 NA nonsynonymous SNV ENSG00000204702:ENST00000377171:exon1:c.T545C:p.V182A NA NA 6p22.1 NA NA NA NA rs2394516 0.39 0.39 0.352 0.336861 0.5815 0.3512 0.4323 0.0454 0.3967 0.61 0.35 0.44 0.05 0.5008 0.61 0.02 D . . . . . . 1.000 P . . 1.16 T -1.069 T 0.055 T 0.38 1.787 11.93 1.16 0.164 -0.305 6.865 1.787085 1.787085 0.03 NA NA NA 0.304 NA 5.7510334 1077 12 41337435 41337435 C T exonic CNTN1 NA synonymous SNV CNTN1:NM_175038:exon11:c.C1383T:p.N461N,CNTN1:NM_001256063:exon13:c.C1416T:p.N472N,CNTN1:NM_001256064:exon13:c.C1416T:p.N472N,CNTN1:NM_001843:exon13:c.C1416T:p.N472N exonic ENSG00000018236 NA synonymous SNV ENSG00000018236:ENST00000348761:exon11:c.C1383T:p.N461N,ENSG00000018236:ENST00000347616:exon12:c.C1416T:p.N472N,ENSG00000018236:ENST00000360099:exon12:c.C1416T:p.N472N,ENSG00000018236:ENST00000547702:exon13:c.C1416T:p.N472N,ENSG00000018236:ENST00000547849:exon13:c.C1416T:p.N472N,ENSG00000018236:ENST00000551295:exon13:c.C1416T:p.N472N Score=455;Name=lod=94 NA 12q12 NA NA NA NA rs1056019 0.58 0.58 0.571 0.571486 0.6571 0.4365 0.6628 0.5862 0.5378 0.66 0.44 0.66 0.58 0.6193 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320637 NA NA 0.639567 0.586473 ID=COSM431076;OCCURENCE=1(breast) 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116765.1;CLNDSDB=.;CLNDSDBID=. 5.7506996 1077 2 127826533 127826533 A G exonic BIN1 NA synonymous SNV BIN1:NM_004305:exon6:c.T486C:p.T162T,BIN1:NM_139343:exon6:c.T486C:p.T162T,BIN1:NM_139344:exon6:c.T486C:p.T162T,BIN1:NM_139345:exon6:c.T486C:p.T162T,BIN1:NM_139346:exon6:c.T486C:p.T162T,BIN1:NM_139347:exon6:c.T486C:p.T162T,BIN1:NM_139348:exon6:c.T486C:p.T162T,BIN1:NM_139349:exon6:c.T486C:p.T162T,BIN1:NM_139350:exon6:c.T486C:p.T162T,BIN1:NM_139351:exon6:c.T486C:p.T162T exonic ENSG00000136717 NA synonymous SNV ENSG00000136717:ENST00000259238:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000316724:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000346226:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000348750:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000351659:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000352848:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000357970:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000376113:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000393040:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000393041:exon6:c.T486C:p.T162T,ENSG00000136717:ENST00000409400:exon6:c.T486C:p.T162T NA NA 2q14.3 Score=820;Name=V$MEIS1AHOXA9_01 NA NA NA rs1060743 0.33 0.33 0.263 0.354633 0.2913 0.4534 0.366 0.2443 0.4591 0.3 0.42 0.39 0.24 0.3344 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739044 NA NA 0.290465 0.235361 NA 0.304 NA 5.7505016 1077 10 96997670 96997670 A G UTR3 PDLIM1 NM_020992:c.*12T>C NA NA UTR3 ENSG00000107438 ENST00000329399:c.*12T>C NA NA NA NA 10q23.33 NA Name=GR Name=43 NA rs1049921 0.17 0.17 0.15 0.172724 0.1779 0.0754 0.255 0.2057 0.1646 0.19 0.08 0.2 0.22 0.2023 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091233 NA NA 0.202674 0.186337 NA 0.21 NA 5.7504594 1077 14 24846961 24846961 G T UTR3 NFATC4 NM_001136022:c.*812G>T,NM_001198967:c.*50G>T,NM_001198965:c.*50G>T,NM_004554:c.*50G>T,NM_001198966:c.*50G>T NA NA UTR3 ENSG00000100968 ENST00000413692:c.*812G>T,ENST00000554591:c.*50G>T,ENST00000424781:c.*812G>T,ENST00000539237:c.*812G>T,ENST00000554050:c.*50G>T,ENST00000250373:c.*50G>T,ENST00000553708:c.*812G>T,ENST00000422617:c.*812G>T,ENST00000557451:c.*812G>T,ENST00000555453:c.*50G>T,ENST00000555167:c.*812G>T,ENST00000556759:c.*50G>T,ENST00000555802:c.*50G>T,ENST00000555393:c.*812G>T NA NA NA NA 14q12 NA Name=USF-1,ELF1_(SC-631) Name=22 NA rs10362 0.19 0.19 0.158 0.181909 0.1829 0.1518 0.3617 0.0658 0.2413 0.2 0.16 0.31 0.09 0.2054 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914313 NA NA 0.195116 0.092374 NA 0.123 NA 5.7499174 1077 2 170929880 170929880 G A intronic UBR3 NA NA NA intronic ENSG00000144357 NA NA NA NA NA 2q31.1 NA Name=GATA-2 Name=105 NA rs10202446 0.32 0.32 0.298 0.340256 0.2505 0.4256 0.2378 0.3162 0.4499 0.26 0.41 0.26 0.34 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005221 NA NA NA NA NA 0.239 NA 5.7495 1077 3 45718327 45718327 T G intronic LIMD1 NA NA NA intronic ENSG00000144791 NA NA NA NA NA 3p21.31 NA Name=CTCF Name=20 NA rs7640969 0.35 0.35 0.315 0.392572 0.2505 0.5198 0.3833 0.2799 0.5665 0.23 0.57 0.38 0.27 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299374 NA NA NA NA NA 0.246 NA 5.7495 1077 6 29759996 29759996 T C exonic LOC554223 NA nonsynonymous SNV LOC554223:NM_001207043:exon1:c.T212C:p.F71S ncRNA_exonic ENSG00000176998,ENSG00000181126 NA NA NA NA NA 6p22.1 NA Name=Pol2,RFX5_(N-494),YY1_(C-20) NA NA rs1610645 0.36 0.36 0.368 0.397364 0.3111 0.1954 0.3703 0.5991 0.4407 0.31 0.24 0.36 0.57 0.4403 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301421 NA NA NA NA NA 0.37 NA 5.7486 1077 1 197480927 197480927 C T exonic DENND1B NA synonymous SNV DENND1B:NM_001195215:exon22:c.G1746A:p.Q582Q exonic ENSG00000213047 NA synonymous SNV ENSG00000213047:ENST00000391979:exon8:c.G666A:p.Q222Q Score=504;Name=lod=149 NA 1q31.3 NA NA NA NA rs12142127 0.24 0.24 0.232 0.229633 0.3062 0.2212 0.2622 0.1415 0.2556 0.3 0.19 0.28 0.15 0.2739 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771767 NA NA 0.338372 0.165456 NA 0.203 NA 5.7481946 1077 10 99350128 99350128 A G exonic C10orf62 NA synonymous SNV C10orf62:NM_001009997:exon1:c.A474G:p.L158L exonic ENSG00000203942 NA synonymous SNV ENSG00000203942:ENST00000370640:exon1:c.A474G:p.L158L Score=300;Name=lod=22 NA 10q24.2 NA NA NA NA rs7093643 0.27 0.27 0.25 0.277955 0.3091 0.1369 0.2968 0.3548 0.274 0.3 0.12 0.26 0.39 0.2936 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112662 NA NA 0.315814 0.365638 ID=COSM1350194;OCCURENCE=1(large_intestine) 0.217 NA 5.7481526 1077 22 39134715 39134715 T C exonic SUN2 NA synonymous SNV SUN2:NM_001199579:exon16:c.A1887G:p.Q629Q,SUN2:NM_015374:exon16:c.A1824G:p.Q608Q,SUN2:NM_001199580:exon17:c.A1824G:p.Q608Q exonic ENSG00000100242 NA synonymous SNV ENSG00000100242:ENST00000455125:exon3:c.A243G:p.Q81Q,ENSG00000100242:ENST00000216064:exon16:c.A1824G:p.Q608Q,ENSG00000100242:ENST00000405018:exon16:c.A1887G:p.Q629Q,ENSG00000100242:ENST00000411587:exon16:c.A1791G:p.Q597Q,ENSG00000100242:ENST00000405510:exon17:c.A1824G:p.Q608Q,ENSG00000100242:ENST00000406622:exon17:c.A1824G:p.Q608Q Score=552;Name=lod=233 NA 22q13.1 NA NA NA NA rs1062687 0.39 0.39 0.42 0.383986 0.2982 0.4603 0.2046 0.556 0.2883 0.31 0.5 0.23 0.53 0.3223 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.398918 2.398918 0 0.298256 0.512483 NA 0.391 NA 5.7479106 1077 19 57984918 57984918 A G exonic ZNF772 NA synonymous SNV ZNF772:NM_001144068:exon4:c.T1071C:p.S357S,ZNF772:NM_001024596:exon5:c.T1194C:p.S398S exonic ENSG00000197128 NA synonymous SNV ENSG00000197128:ENST00000427512:exon2:c.T858C:p.S286S,ENSG00000197128:ENST00000356584:exon4:c.T1071C:p.S357S,ENSG00000197128:ENST00000343280:exon5:c.T1194C:p.S398S NA NA 19q13.43 NA Name=SETDB1 NA NA rs2074058 0.4 0.4 0.384 0.413938 0.2783 0.5893 0.4524 0.3154 0.4785 0.3 0.64 0.38 0.31 0.3563 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.784621 NA NA 0.284419 0.309578 NA 0.326 NA 5.7476476 1077 11 64124515 64124515 T C exonic CCDC88B NA synonymous SNV CCDC88B:NM_032251:exon27:c.T4380C:p.P1460P exonic ENSG00000168071 NA nonsynonymous SNV ENSG00000168071:ENST00000359902:exon14:c.T1694C:p.L565P NA NA 11q13.1 NA NA NA NA rs612448 0.28 0.28 0.233 0.260184 0.4334 0.1845 0.4107 0.0303 0.364 0.45 0.18 0.39 0.04 0.3843 0.45 . . 0.0 B 0.0 B . . 1.000 P . . 0.37 T -0.918 T 0.000 T . 1.546 11.12 0.573 0.007 -0.393 3.362 1.545644 1.545644 0.04 0.434955 0.096774 NA 0.225 NA 5.747345 1077 5 74063268 74063268 G T intronic NSA2 NA NA NA intronic ENSG00000164346 NA NA NA NA NA 5q13.3 NA Name=Pol2,KAP1,GATA-1 Name=84 NA rs79669494 0.14 0.14 0.136 0.140176 0.1382 0.0208 0.1196 0.2867 0.0818 0.11 0.02 0.14 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046342 NA NA 0.11461 0.269899 NA 0.225 NA 5.74719 1077 11 35201810 35201810 T C intronic CD44 NA NA NA intronic ENSG00000026508 NA NA NA NA NA 11p13 NA Name=Pol2-4H8 Name=3 NA rs11033019 0.07 0.07 0.066 0.0585064 0.0865 0.001 0.0418 0.1165 0.0225 0.09 0.0017 0.06 0.13 0.0742 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632069 NA NA 0.092252 0.09832 NA 0.072 NA 5.747048 1077 8 17919031 17919031 C T intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA Name=GABP,ELF1_(SC-631),Pol2-4H8,HNF4A_(H-171) Name=2 NA rs61108931 0.24 0.24 0.217 0.247204 0.2535 0.3056 0.3127 0.0673 0.3773 0.26 0.3 0.33 0.09 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110149 NA NA NA NA NA 0.196 NA 5.7465 1077 5 74063250 74063250 T C intronic NSA2 NA NA NA intronic ENSG00000164346 NA NA NA NA NA 5q13.3 NA Name=GABP,GATA-1,KAP1,Pol2 Name=84 NA rs116165962 0.11 0.11 0.108 0.108227 0.1372 0.0208 0.1066 0.1732 0.0818 0.11 0.02 0.12 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837833 NA NA 0.116593 0.184249 NA 0.138 NA 5.746207 1077 6 62442604 62442604 A G exonic KHDRBS2 NA synonymous SNV KHDRBS2:NM_152688:exon7:c.T876C:p.Y292Y exonic ENSG00000112232 NA synonymous SNV ENSG00000112232:ENST00000281156:exon7:c.T876C:p.Y292Y Score=493;Name=lod=134 NA 6q11.1 NA NA NA NA rs10484690 0.39 0.39 0.407 0.390775 0.2813 0.3046 0.3242 0.6218 0.3272 0.27 0.34 0.35 0.67 0.3326 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816173 NA NA 0.306628 0.569905 NA 0.362 NA 5.7461386 1077 12 104092996 104092996 T C exonic STAB2 NA synonymous SNV STAB2:NM_017564:exon34:c.T3705C:p.H1235H exonic ENSG00000136011 NA synonymous SNV ENSG00000136011:ENST00000388887:exon34:c.T3705C:p.H1235H NA NA 12q23.3 Score=714;Name=V$HOX13_01 NA NA NA rs697210 0.35 0.35 0.343 0.353834 0.3121 0.37 0.3804 0.4168 0.2761 0.29 0.38 0.34 0.4 0.3122 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111335 NA NA 0.296279 0.392419 NA 0.297 NA 5.7460876 1077 1 29542637 29542637 A G exonic MECR NA nonsynonymous SNV MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_016011:exon3:c.T286C:p.F96L exonic ENSG00000116353 NA nonsynonymous SNV ENSG00000116353:ENST00000263702:exon3:c.T286C:p.F96L,ENSG00000116353:ENST00000373791:exon3:c.T58C:p.F20L Score=524;Name=lod=179 NA 1p35.3 NA NA NA NA rs1128400 0.74 0.74 0.735 0.718051 0.8797 0.5625 0.7334 0.7231 0.6943 0.88 0.54 0.77 0.73 0.8168 0.89 0.65 T 0.0 B 0.0 B 0.000 N 1.000 P -0.38 N 1.01 T -1.017 T 0.000 T 0.016 0.16 4.859 1.39 0.052 0.287 4.877 0.159742 NA 0.44 0.891395 0.765774 NA 0.732 NA 5.7454384 1077 5 153432970 153432970 C T exonic MFAP3 NA synonymous SNV MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D exonic ENSG00000037749 NA synonymous SNV ENSG00000037749:ENST00000439768:exon2:c.C348T:p.D116D,ENSG00000037749:ENST00000322602:exon3:c.C786T:p.D262D,ENSG00000037749:ENST00000436816:exon3:c.C786T:p.D262D Score=589;Name=lod=330 NA 5q33.2 Score=891;Name=V$RORA1_01 NA NA NA rs2255493 0.71 0.71 0.697 0.715855 0.6252 0.8581 0.7161 0.6241 0.7863 0.64 0.87 0.67 0.64 0.6742 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53544 NA NA 0.621977 0.648888 NA 0.674 NA 5.7452896 1077 15 35045057 35045057 G A exonic GJD2 NA synonymous SNV GJD2:NM_020660:exon2:c.C588T:p.S196S exonic ENSG00000159248 NA synonymous SNV ENSG00000159248:ENST00000290374:exon2:c.C588T:p.S196S Score=737;Name=lod=1313 NA 15q14 NA NA NA NA rs3743123 0.29 0.29 0.301 0.308906 0.2922 0.255 0.3184 0.2897 0.4008 0.29 0.28 0.32 0.27 0.3207 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397962 NA NA 0.308632 0.308042 NA 0.319 NA 5.7451346 1078 5 153432733 153432733 T C exonic MFAP3 NA synonymous SNV MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A,MFAP3:NM_005927:exon3:c.T549C:p.A183A exonic ENSG00000037749 NA synonymous SNV ENSG00000037749:ENST00000439768:exon2:c.T111C:p.A37A,ENSG00000037749:ENST00000322602:exon3:c.T549C:p.A183A,ENSG00000037749:ENST00000436816:exon3:c.T549C:p.A183A Score=541;Name=lod=210 NA 5q33.2 Score=906;Name=V$CDPCR3HD_01 NA NA NA rs2578386 0.71 0.71 0.689 0.715256 0.6252 0.8581 0.7161 0.6218 0.7863 0.64 0.87 0.67 0.64 0.6745 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049561 NA NA 0.621977 0.648207 NA 0.674 NA 5.7449896 1078 1 205630893 205630893 A G intronic SLC45A3 NA NA NA intronic ENSG00000158715 NA NA NA NA NA 1q32.1 NA Name=GATA-2 Name=13 NA rs3761916 0.32 0.32 0.327 0.347444 0.2555 0.4504 0.4438 0.1884 0.4826 0.26 0.47 0.41 0.19 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264262 NA NA NA NA NA 0.283 NA 5.7445 1078 19 4431896 4431896 C T intronic CHAF1A NA NA NA intronic ENSG00000167670 NA NA NA NA NA 19p13.3 NA Name=EBF1_(C-8) Name=10 NA rs243371 0.4 0.4 0.376 0.396565 0.2555 0.6002 0.415 0.3457 0.3875 0.26 0.61 0.41 0.36 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480302 NA NA NA NA NA 0.283 NA 5.7445 1078 3 42251329 42251329 C T exonic TRAK1 NA synonymous SNV TRAK1:NM_001265609:exon13:c.C1593T:p.P531P,TRAK1:NM_014965:exon13:c.C1641T:p.P547P,TRAK1:NM_001042646:exon14:c.C1815T:p.P605P,TRAK1:NM_001265608:exon14:c.C1815T:p.P605P exonic ENSG00000182606 NA synonymous SNV ENSG00000182606:ENST00000341421:exon13:c.C1641T:p.P547P,ENSG00000182606:ENST00000396175:exon13:c.C1641T:p.P547P,ENSG00000182606:ENST00000327628:exon14:c.C1815T:p.P605P NA NA 3p22.1 Score=811;Name=V$HNF4_01 NA NA NA rs2290133 0.36 0.36 0.325 0.361621 0.2793 0.4663 0.5346 0.2428 0.3763 0.28 0.49 0.51 0.25 0.3394 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821832 NA NA 0.303605 0.257376 NA 0.239 NA 5.7443616 1078 2 223084833 223084833 C T intronic PAX3 NA NA NA intronic ENSG00000135903 NA NA NA Score=659;Name=lod=635 NA 2q36.1 NA NA Name=2 NA rs13022712 0.06 0.06 0.042 0.0758786 0.0736 0.0188 0.1931 0.0038 0.1513 0.08 0.01 0.17 0.01 0.1038 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.883172 3.883172 NA 0.078372 0.019065 NA 0.072 NA 5.744228 1078 1 201926403 201926403 T G intronic TIMM17A NA NA NA intronic ENSG00000134375 NA NA NA NA NA 1q32.1 Score=784;Name=V$MEF2_02 NA Name=4 NA rs61821487 0.06 0.06 0.054 0.0611022 0.0855 0.0377 0.0793 0.034 0.0838 0.08 0.04 0.08 0.03 0.0796 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699538 NA NA 0.091395 0.046527 NA 0.138 NA 5.743505 1078 6 42672407 42672407 T C intronic PRPH2 NA NA NA intronic ENSG00000112619 NA NA NA NA NA 6p21.1 NA Name=HEY1,Pol2-4H8,TAF7_(SQ-8),Pol2 Name=55 NA rs3818087 0.28 0.28 0.227 0.266973 0.2565 0.4673 0.3242 0.1331 0.2117 0.25 0.44 0.32 0.14 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202557 NA NA NA NA NA 0.297 NA 5.7435 1078 14 20818602 20818602 C G intronic PARP2 NA NA NA intronic ENSG00000129484 NA NA NA NA NA 14q11.2 NA Name=GATA-2,c-Fos,c-Jun Name=20 NA rs3093902 0.18 0.18 0.154 0.20607 0.2565 0.1835 0.2003 0.0446 0.3998 0.25 0.18 0.2 0.06 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079309 NA NA NA NA NA 0.196 NA 5.7435 1078 14 20819112 20819112 T A intronic PARP2 NA NA NA intronic ENSG00000129484 NA NA NA NA NA 14q11.2 NA Name=CTCF,Rad21 Name=38 NA rs3093904 0.18 0.18 0.148 0.20607 0.2565 0.1835 0.2003 0.0446 0.3998 0.25 0.18 0.2 0.06 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02003 NA NA NA NA NA 0.196 NA 5.7435 1078 4 79284694 79284694 C T exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_001166133:exon21:c.C2450T:p.A817V,FRAS1:NM_025074:exon21:c.C2450T:p.A817V exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon21:c.C2450T:p.A817V,ENSG00000138759:ENST00000325942:exon21:c.C2450T:p.A817V NA NA 4q21.21 NA NA NA NA rs6835769 0.36 0.36 0.304 0.335463 0.5557 0.2004 0.5562 0.1278 0.3722 0.56 0.21 0.55 0.09 0.487 0.56 1 T 0.0 B 0.002 B 0.563 N 1.000 P -0.485 N 1.62 T -0.940 T 0.000 T 0.023 -1.071 0.172 0.556 0.138 -0.088 8.503 -1.070942 NA 0.97 0.548091 0.188235 NA 0.42 NA 5.7425424 1078 17 78797066 78797066 T A intronic RPTOR NA NA NA UTR3 ENSG00000141564 ENST00000570891:c.*39T>A NA NA NA NA 17q25.3 NA Name=Max,c-Myc,HA-E2F1,ZNF263,Egr-1 Name=38 NA rs2019040 0.14 0.14 0.144 0.112819 0.1461 0.2302 0.0908 0.0265 0.09 0.15 0.25 0.1 0.04 0.133 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659815 NA NA 0.145233 0.041534 NA 0.072 NA 5.7423337 1078 19 14578813 14578813 T G intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA Name=Rad21,CTCF,SMC3_(ab9263),CTCF_(C-20),JunD Name=11 NA rs10416904 0.17 0.17 0.172 0.195088 0.0775 0.1062 0.1643 0.4728 0.0542 0.07 0.12 0.14 0.39 0.115 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19203 NA NA 0.065281 0.395373 NA 0.217 NA 5.742219 1078 22 38369976 38369976 A G exonic SOX10 NA synonymous SNV SOX10:NM_006941:exon4:c.T927C:p.H309H exonic ENSG00000100146 NA synonymous SNV ENSG00000100146:ENST00000396884:exon4:c.T927C:p.H309H,ENSG00000100146:ENST00000360880:exon5:c.T927C:p.H309H Score=588;Name=lod=327 NA 22q13.1 Score=922;Name=V$USF_Q6 NA NA NA rs139884 0.71 0.71 0.7 0.713259 0.6372 0.748 0.6499 0.8548 0.6094 0.63 0.75 0.62 0.87 0.6537 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781736 NA NA 0.633837 0.816841 NA 0.703 NA 5.7419296 1078 1 118242719 118242719 A G intergenic FAM46C,GDAP2 dist=71708;dist=163388 NA NA ncRNA_exonic ENSG00000270719 NA NA NA NA NA 1p12 NA Name=CEBPB Name=4 NA rs4575073 0.25 0.25 0.237 0.246206 0.2584 0.4008 0.3631 0.0333 0.2791 0.25 0.39 0.33 0.03 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184671 NA NA NA NA NA 0.152 NA 5.7416 1078 3 156877357 156877357 T C intronic CCNL1 NA NA NA intronic ENSG00000163660 NA NA NA NA NA 3q25.31 NA Name=CTCF_(C-20),ELF1_(SC-631),NFKB,ZEB1_(SC-25388),TCF12,CTCF,GABP,TAF1,E2F1,Pol2-4H8,YY1_(C-20),HA-E2F1,YY1,Pol2(phosphoS2),Egr-1,Pol2,PU.1 Name=111 NA rs10936061 0.27 0.27 0.213 0.241813 0.2584 0.3333 0.4784 0.0787 0.183 0.25 0.36 0.43 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.601513 2.601513 NA NA NA NA 0.167 NA 5.7416 1078 7 7949295 7949295 C T intergenic LOC729852,GLCCI1 dist=30444;dist=59079 NA NA ncRNA_exonic ENSG00000214998 NA NA NA Score=629;Name=lod=481 NA 7p21.3 NA NA Name=32 NA rs61741163 0.12 0.12 0.119 0.0876597 0.2584 0.002 0.1052 0.0121 0.09 0.26 0.0017 0.12 0.03 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.489946 NA NA NA NA NA 0.181 NA 5.7416 1078 2 48602252 48602252 C T exonic FOXN2 NA synonymous SNV FOXN2:NM_002158:exon7:c.C966T:p.S322S exonic ENSG00000170802 NA synonymous SNV ENSG00000170802:ENST00000340553:exon7:c.C966T:p.S322S Score=505;Name=lod=150 NA 2p16.3 NA NA NA NA rs17855177 0.29 0.29 0.28 0.255591 0.3101 0.4603 0.2104 0.1218 0.2014 0.31 0.44 0.25 0.12 0.2927 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898763 NA NA 0.322674 0.15842 NA 0.174 NA 5.7411926 1078 14 106134510 106134510 G C intergenic TMEM121,ELK2AP dist=137971;dist=1404 NA NA ncRNA_intronic ENSG00000253755 NA NA NA NA NA 14q32.33 NA Name=Pol2 Name=5 NA rs10144438 NA NA 0.106 0.255591 0.2594 0.5258 0.2248 0.0446 0.2802 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217931 NA NA NA NA NA NA NA 5.7406 1078 18 12076451 12076451 C A intergenic IMPA2,ANKRD62 dist=45566;dist=17397 NA NA ncRNA_exonic ENSG00000256616 NA NA NA Score=778;Name=lod=1937 NA 18p11.21 NA NA Name=69 NA rs28395459 0.43 0.43 0.429 0.435304 0.2594 0.5734 0.3775 0.5825 0.316 0.26 0.57 0.39 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832685 NA NA NA NA NA 0.384 NA 5.7406 1078 21 33355760 33355760 G A intronic HUNK NA NA NA intronic ENSG00000142149 NA NA NA NA NA 21q22.11 NA Name=CEBPB Name=7 NA rs737103 0.38 0.38 0.395 0.365216 0.2594 0.4464 0.3732 0.4433 0.2791 0.24 0.46 0.44 0.44 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921062 NA NA NA NA ID=COSN166637;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.29 NA 5.7406 1078 1 214575122 214575122 T C intronic PTPN14 NA NA NA intronic ENSG00000152104 NA NA NA NA NA 1q41 NA Name=STAT3 Name=47 NA rs17022807 0.1 0.1 0.094 0.124201 0.0835 0.1706 0.0548 0.1127 0.183 0.08 0.15 0.06 0.1 0.095 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.786983 1.786983 NA 0.08093 0.08965 NA 0.087 NA 5.74057 1078 22 19951897 19951897 G C intronic COMT NA NA NA exonic ENSG00000093010 NA nonsynonymous SNV ENSG00000093010:ENST00000403184:exon5:c.G690C:p.K230N NA NA 22q11.21 NA NA NA NA rs4646315 0.17 0.17 0.126 0.174521 0.1869 0.123 0.2219 0.1241 0.2495 0.19 0.11 0.22 0.15 0.2397 0.22 . . 0.001 B 0.0 B . . 1.000 P . . -0.5 T -1.081 T 0.000 T 0.078 1.133 9.617 -1.95 -0.236 0.783 8.635 1.132749 NA 0.03 NA NA NA 0.268 NA 5.7400667 1078 1 146523897 146523897 G T intergenic LOC728989,PRKAB2 dist=9298;dist=102788 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=736;Name=lod=1309 NA 1q21.1 NA Name=PU.1 NA NA rs12124149 0.14 0.14 0.146 0.114617 0.2604 0.0268 0.1354 0.0832 0.0828 0.27 0.02 0.17 0.07 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123144 NA NA NA NA NA 0.159 NA 5.7396 1078 3 186443018 186443018 T C exonic KNG1 NA nonsynonymous SNV KNG1:NM_000893:exon4:c.T533C:p.M178T,KNG1:NM_001102416:exon4:c.T533C:p.M178T,KNG1:NM_001166451:exon4:c.T533C:p.M178T exonic ENSG00000113889 NA nonsynonymous SNV ENSG00000113889:ENST00000265023:exon4:c.T533C:p.M178T,ENSG00000113889:ENST00000287611:exon4:c.T533C:p.M178T,ENSG00000113889:ENST00000447445:exon4:c.T533C:p.M178T NA NA 3q27.3 NA NA NA NA rs1656922 0.5 0.5 0.492 0.524161 0.5368 0.3562 0.611 0.615 0.5 0.53 0.33 0.61 0.58 0.5373 0.61 0.62 T 0.0 B 0.0 B 0.447 N 1.000 P -0.205 N 1.77 T -0.934 T 0.000 T 0.015 -1.328 0.032 -0.388 -0.128 -0.072 0.989 -1.327636 NA 0.91 0.519767 0.596459 ID=COSM149539,COSM149540;OCCURENCE=1(stomach) 0.623 NA 5.7394664 1078 2 96952833 96952833 A G exonic SNRNP200 NA synonymous SNV SNRNP200:NM_014014:exon27:c.T3550C:p.L1184L exonic ENSG00000144028 NA synonymous SNV ENSG00000144028:ENST00000323853:exon27:c.T3550C:p.L1184L Score=495;Name=lod=137 NA 2q11.2 NA NA NA NA rs3171927 0.2 0.2 0.214 0.284145 0.2972 0.2153 0.2421 0.0416 0.6994 0.29 0.19 0.25 0.05 0.319 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954004 NA NA 0.312442 0.085792 ID=COSM148903;OCCURENCE=1(stomach) 0.145 NA 5.7380246 1078 17 1673405 1673405 G A intronic SERPINF1 NA NA NA intronic ENSG00000132386 NA NA NA NA NA 17p13.3 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058),RXRA,TCF4,Pol2,FOXA1_(C-20),HDAC2_(SC-6296),ZNF263 Name=42 NA rs12603825 0.31 0.31 0.289 0.300519 0.2624 0.246 0.3386 0.4107 0.2198 0.23 0.27 0.35 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426281 NA NA NA NA NA 0.355 NA 5.7376 1078 2 108999786 108999786 T C intronic SULT1C4 NA NA NA intronic ENSG00000198075 NA NA NA NA NA 2q12.3 NA Name=CTCF Name=29 NA rs4149436 0.37 0.37 0.413 0.437899 0.2644 0.1081 0.1888 0.9463 0.4458 0.26 0.11 0.21 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234582 NA NA NA NA NA 0.514 NA 5.7356 1078 5 38338761 38338761 C T intronic EGFLAM NA NA NA intronic ENSG00000164318 NA NA NA NA NA 5p13.2 NA Name=USF2,HNF4A_(H-171),TCF4,HNF4G_(SC-6558),USF-1,BHLHE40,CEBPB Name=9 NA rs17339367 0.07 0.07 0.064 0.0728834 0.0964 0.0923 0.0533 0.0121 0.1247 0.08 0.1 0.06 0.01 0.0819 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428442 NA NA 0.086163 0.031548 NA 0.036 NA 5.735537 1079 10 85972043 85972043 A G exonic CDHR1 NA synonymous SNV CDHR1:NM_001171971:exon15:c.A1662G:p.E554E,CDHR1:NM_033100:exon15:c.A1662G:p.E554E exonic ENSG00000148600 NA synonymous SNV ENSG00000148600:ENST00000440770:exon8:c.A774G:p.E258E,ENSG00000148600:ENST00000332904:exon15:c.A1662G:p.E554E,ENSG00000148600:ENST00000372117:exon15:c.A1662G:p.E554E Score=551;Name=lod=232 NA 10q23.1 NA NA NA NA rs10749482 0.4 0.4 0.406 0.429113 0.2853 0.2619 0.3876 0.7542 0.3395 0.3 0.27 0.34 0.77 0.3557 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186771 NA NA 0.291047 0.666818 NA 0.428 NA 5.7346196 1079 12 92924753 92924753 C T intergenic CLLU1,C12orf74 dist=100023;dist=171866 NA NA ncRNA_exonic ENSG00000258262 NA NA NA Score=389;Name=lod=51 NA 12q22 NA NA Name=2 NA rs11614879 0.2 0.2 0.158 0.16893 0.2654 0.1835 0.2925 0.0673 0.1043 0.27 0.16 0.26 0.09 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645434 NA NA NA NA NA 0.145 NA 5.7346 1079 16 68857441 68857441 T C exonic CDH1 NA synonymous SNV CDH1:NM_004360:exon13:c.T2076C:p.A692A exonic ENSG00000039068 NA synonymous SNV ENSG00000039068:ENST00000422392:exon12:c.T1893C:p.A631A,ENSG00000039068:ENST00000261769:exon13:c.T2076C:p.A692A NA NA 16q22.1 NA Name=TCF12 Name=97 NA rs1801552 0.69 0.69 0.714 0.71865 0.6451 0.6448 0.585 0.938 0.6687 0.64 0.62 0.59 0.93 0.6548 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285663 NA NA 0.632209 0.880346 NA 0.667 NA 5.7345576 1079 4 155459194 155459194 A T exonic PLRG1 NA synonymous SNV PLRG1:NM_001201564:exon13:c.T1191A:p.I397I,PLRG1:NM_002669:exon13:c.T1218A:p.I406I exonic ENSG00000171566 NA synonymous SNV ENSG00000171566:ENST00000503251:exon2:c.T147A:p.I49I,ENSG00000171566:ENST00000302078:exon13:c.T1191A:p.I397I,ENSG00000171566:ENST00000393905:exon13:c.T1218A:p.I406I,ENSG00000171566:ENST00000499023:exon13:c.T1218A:p.I406I Score=671;Name=lod=713 NA 4q31.3 NA NA NA NA rs7668818 0.21 0.21 0.19 0.230631 0.325 0.1438 0.1888 0.1498 0.362 0.3 0.13 0.21 0.14 0.2793 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370244 1.370244 NA 0.328238 0.176364 NA 0.217 NA 5.7341286 1079 1 26887592 26887592 T C exonic RPS6KA1 NA synonymous SNV RPS6KA1:NM_001006665:exon15:c.T1425C:p.Y475Y,RPS6KA1:NM_002953:exon16:c.T1398C:p.Y466Y exonic ENSG00000117676 NA synonymous SNV ENSG00000117676:ENST00000403732:exon3:c.T246C:p.Y82Y,ENSG00000117676:ENST00000374162:exon15:c.T1122C:p.Y374Y,ENSG00000117676:ENST00000530003:exon15:c.T1350C:p.Y450Y,ENSG00000117676:ENST00000531382:exon15:c.T1425C:p.Y475Y,ENSG00000117676:ENST00000374166:exon16:c.T1365C:p.Y455Y,ENSG00000117676:ENST00000374168:exon16:c.T1398C:p.Y466Y,ENSG00000117676:ENST00000526792:exon16:c.T1122C:p.Y374Y NA NA 1p36.11 Score=725;Name=V$NRSF_01 NA NA NA rs1064196 0.47 0.47 0.469 0.510383 0.2903 0.756 0.3646 0.5068 0.592 0.29 0.74 0.35 0.5 0.3793 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.091899 NA NA 0.26314 0.462324 NA 0.384 NA 5.7339266 1079 12 114377885 114377885 G C exonic RBM19 NA synonymous SNV RBM19:NM_001146698:exon15:c.C1818G:p.T606T,RBM19:NM_001146699:exon15:c.C1818G:p.T606T,RBM19:NM_016196:exon15:c.C1818G:p.T606T exonic ENSG00000122965 NA synonymous SNV ENSG00000122965:ENST00000261741:exon15:c.C1818G:p.T606T,ENSG00000122965:ENST00000392561:exon15:c.C1818G:p.T606T,ENSG00000122965:ENST00000545145:exon15:c.C1818G:p.T606T Score=420;Name=lod=68 NA 12q24.21 NA NA NA NA rs2290790 0.21 0.21 0.205 0.219449 0.3191 0.1756 0.2565 0.0688 0.3395 0.31 0.15 0.3 0.08 0.2861 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619324 NA NA 0.328488 0.106446 NA 0.181 NA 5.7329786 1079 22 37387461 37387461 C T intronic TEX33 NA NA NA intronic ENSG00000185264 NA NA NA NA NA 22q12.3 NA Name=CTCF Name=17 NA rs6000523 0.23 0.23 0.191 0.241014 0.2674 0.0883 0.353 0.2844 0.2331 0.25 0.07 0.37 0.27 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050511 NA NA NA NA NA 0.217 NA 5.7326 1079 17 72943126 72943126 G A exonic OTOP3 NA synonymous SNV OTOP3:NM_001272005:exon6:c.G1122A:p.A374A,OTOP3:NM_178233:exon6:c.G1176A:p.A392A exonic ENSG00000182938 NA synonymous SNV ENSG00000182938:ENST00000328801:exon6:c.G1176A:p.A392A NA NA 17q25.1 Score=794;Name=V$AHRARNT_02 NA NA NA rs8066909 0.32 0.32 NA 0.290735 0.5109 0.0655 0.4885 0.1672 0.3231 0.52 0.08 0.48 0.16 0.4232 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.510521 NA NA NA NA ID=COSM437353;OCCURENCE=1(breast) 0.362 NA 5.7325666 1079 9 84205860 84205860 G A exonic TLE1 NA synonymous SNV TLE1:NM_005077:exon16:c.C1689T:p.T563T exonic ENSG00000196781 NA synonymous SNV ENSG00000196781:ENST00000376499:exon16:c.C1689T:p.T563T Score=383;Name=lod=48 NA 9q21.32 NA NA NA NA rs8782 0.2 0.2 0.172 0.173922 0.333 0.0387 0.2075 0.1475 0.1616 0.32 0.05 0.24 0.15 0.2552 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18449 NA NA 0.346163 0.169995 NA 0.203 NA 5.7323036 1079 16 2115481 2115481 C T intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA Name=19 NA rs45477195 0.05 0.05 0.041 0.0393371 0.1004 NA 0.0735 0.0182 0.0215 0.1 NA 0.07 0.01 0.0712 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401727 NA NA 0.096628 0.029345 NA 0.138 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome;CLNREVSTAT=not;CLNACC=RCV000042958.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1220:C0041341:191100:7199000 5.731772 1079 2 71795152 71795152 A T exonic DYSF NA synonymous SNV DYSF:NM_001130976:exon24:c.A2541T:p.S847S,DYSF:NM_001130977:exon24:c.A2541T:p.S847S,DYSF:NM_001130984:exon24:c.A2544T:p.S848S,DYSF:NM_001130986:exon24:c.A2544T:p.S848S,DYSF:NM_001130455:exon25:c.A2586T:p.S862S,DYSF:NM_001130978:exon25:c.A2583T:p.S861S,DYSF:NM_001130980:exon25:c.A2634T:p.S878S,DYSF:NM_001130981:exon25:c.A2634T:p.S878S,DYSF:NM_001130983:exon25:c.A2586T:p.S862S,DYSF:NM_001130985:exon25:c.A2637T:p.S879S,DYSF:NM_001130987:exon25:c.A2637T:p.S879S,DYSF:NM_003494:exon25:c.A2583T:p.S861S,DYSF:NM_001130979:exon26:c.A2676T:p.S892S,DYSF:NM_001130982:exon26:c.A2679T:p.S893S exonic ENSG00000135636 NA synonymous SNV ENSG00000135636:ENST00000409744:exon24:c.A2544T:p.S848S,ENSG00000135636:ENST00000258104:exon25:c.A2583T:p.S861S,ENSG00000135636:ENST00000394120:exon25:c.A2586T:p.S862S,ENSG00000135636:ENST00000409366:exon25:c.A2586T:p.S862S,ENSG00000135636:ENST00000409582:exon25:c.A2634T:p.S878S,ENSG00000135636:ENST00000409762:exon25:c.A2634T:p.S878S,ENSG00000135636:ENST00000410020:exon25:c.A2637T:p.S879S,ENSG00000135636:ENST00000410041:exon25:c.A2637T:p.S879S,ENSG00000135636:ENST00000429174:exon25:c.A2583T:p.S861S,ENSG00000135636:ENST00000409651:exon26:c.A2679T:p.S893S,ENSG00000135636:ENST00000413539:exon26:c.A2676T:p.S892S Score=542;Name=lod=213 NA 2p13.2 NA NA NA NA rs2288355 0.55 0.55 0.58 0.550519 0.663 0.1925 0.5634 0.8147 0.4376 0.66 0.14 0.57 0.87 0.6042 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.525491 1.525491 NA 0.668837 0.80867 NA 0.674 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080254.3;CLNDSDB=.;CLNDSDBID=. 5.7306296 1079 19 38798086 38798086 T C exonic YIF1B NA synonymous SNV YIF1B:NM_033557:exon6:c.A678G:p.V226V,YIF1B:NM_001039671:exon7:c.A726G:p.V242V,YIF1B:NM_001039672:exon7:c.A771G:p.V257V,YIF1B:NM_001039673:exon7:c.A762G:p.V254V,YIF1B:NM_001145461:exon7:c.A720G:p.V240V,YIF1B:NM_001145462:exon7:c.A678G:p.V226V,YIF1B:NM_001145463:exon7:c.A762G:p.V254V exonic ENSG00000167645 NA synonymous SNV ENSG00000167645:ENST00000592246:exon5:c.A573G:p.V191V,ENSG00000167645:ENST00000392124:exon6:c.A678G:p.V226V,ENSG00000167645:ENST00000329420:exon7:c.A726G:p.V242V,ENSG00000167645:ENST00000337679:exon7:c.A762G:p.V254V,ENSG00000167645:ENST00000339413:exon7:c.A771G:p.V257V,ENSG00000167645:ENST00000591755:exon7:c.A762G:p.V254V,ENSG00000167645:ENST00000591784:exon7:c.A678G:p.V226V,ENSG00000167645:ENST00000592694:exon7:c.A678G:p.V226V NA NA 19q13.2 NA Name=Pol2 NA NA rs3178327 0.38 0.38 0.327 0.374601 0.326 0.5823 0.4712 0.1581 0.4346 0.32 0.59 0.42 0.17 0.3348 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083634 NA NA 0.27593 0.185883 NA 0.246 NA 5.7299366 1079 14 22636776 22636776 G C intergenic OR4E2,DAD1 dist=502538;dist=397031 NA NA exonic ENSG00000259092 NA nonsynonymous SNV ENSG00000259092:ENST00000557168:exon2:c.G229C:p.G77R NA NA 14q11.2 Score=824;Name=V$EVI1_04 NA NA NA rs34544774 0.06 0.06 0.061 0.0567093 0.0408 NA 0.0331 0.1452 0.0286 0.03 NA 0.04 0.17 0.033 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664218 NA 0.71 0.029898 0.107047 NA NA NA 5.7296354 1079 5 169504743 169504743 T C exonic DOCK2 NA synonymous SNV DOCK2:NM_004946:exon48:c.T4896C:p.R1632R exonic ENSG00000134516 NA synonymous SNV ENSG00000134516:ENST00000520908:exon34:c.T3372C:p.R1124R,ENSG00000134516:ENST00000540750:exon34:c.T2079C:p.R693R,ENSG00000134516:ENST00000256935:exon48:c.T4896C:p.R1632R NA NA 5q35.1 Score=892;Name=V$CP2_01 NA NA NA rs1045168 0.28 0.28 0.271 0.291134 0.334 0.1071 0.2579 0.3782 0.3425 0.34 0.1 0.3 0.38 0.2949 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.396754 1.396754 NA 0.30814 0.376759 ID=COSM150014;OCCURENCE=1(stomach) 0.275 NA 5.7296266 1079 14 53130507 53130507 T C intronic ERO1L NA NA NA exonic ENSG00000197930 NA nonsynonymous SNV ENSG00000197930:ENST00000554019:exon8:c.A688G:p.I230V,ENSG00000197930:ENST00000556039:exon8:c.A688G:p.I230V Score=376;Name=lod=45 NA 14q22.1 NA NA Name=2 NA rs17125636 0.42 0.42 0.406 0.38099 0.503 0.4137 0.4914 0.1944 0.3957 0.51 0.44 0.5 0.21 0.4532 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083226 NA NA 0.481395 0.240345 NA 0.377 NA 5.7290717 1079 11 126277216 126277216 C T exonic ST3GAL4 NA synonymous SNV ST3GAL4:NM_001254759:exon3:c.C249T:p.Y83Y,ST3GAL4:NM_001254757:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_001254758:exon5:c.C252T:p.Y84Y,ST3GAL4:NM_006278:exon5:c.C240T:p.Y80Y exonic ENSG00000110080 NA synonymous SNV ENSG00000110080:ENST00000532243:exon3:c.C249T:p.Y83Y,ENSG00000110080:ENST00000534457:exon3:c.C237T:p.Y79Y,ENSG00000110080:ENST00000449406:exon4:c.C219T:p.Y73Y,ENSG00000110080:ENST00000526727:exon4:c.C252T:p.Y84Y,ENSG00000110080:ENST00000227495:exon5:c.C240T:p.Y80Y,ENSG00000110080:ENST00000356132:exon5:c.C270T:p.Y90Y,ENSG00000110080:ENST00000392669:exon5:c.C252T:p.Y84Y,ENSG00000110080:ENST00000444328:exon5:c.C252T:p.Y84Y,ENSG00000110080:ENST00000526311:exon5:c.C252T:p.Y84Y,ENSG00000110080:ENST00000528858:exon5:c.C252T:p.Y84Y,ENSG00000110080:ENST00000530591:exon5:c.C240T:p.Y80Y,ENSG00000110080:ENST00000531217:exon5:c.C252T:p.Y84Y,ENSG00000110080:ENST00000534083:exon5:c.C252T:p.Y84Y,ENSG00000110080:ENST00000534452:exon5:c.C252T:p.Y84Y NA NA 11q24.2 NA NA Name=10 NA rs2230278 0.38 0.38 0.356 0.346246 0.3181 0.5099 0.3242 0.3646 0.1973 0.32 0.49 0.32 0.39 0.3162 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956413 NA NA 0.303397 0.350522 NA 0.486 NA 5.7289696 1079 6 159146871 159146871 C T intronic SYTL3 NA NA NA ncRNA_exonic ENSG00000219249 NA NA NA NA NA 6q25.3 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) Name=3 NA rs6455600 0.56 0.56 0.581 0.612021 0.6044 0.2351 0.4654 0.9327 0.6789 0.61 0.2 0.54 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129204 NA NA NA NA NA 0.609 NA 5.7289333 1079 2 68882468 68882468 T C exonic PROKR1 NA synonymous SNV PROKR1:NM_138964:exon2:c.T942C:p.F314F exonic ENSG00000169618 NA synonymous SNV ENSG00000169618:ENST00000394342:exon2:c.T942C:p.F314F,ENSG00000169618:ENST00000303786:exon3:c.T942C:p.F314F Score=607;Name=lod=390 NA 2p13.3 NA NA NA NA rs6722313 0.4 0.4 0.359 0.452276 0.3171 0.3919 0.3055 0.6823 0.4468 0.33 0.34 0.29 0.64 0.3399 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.202458 NA NA 0.280814 0.609169 NA 0.406 NA 5.7288526 1079 5 126887569 126887569 G A exonic PRRC1 NA synonymous SNV PRRC1:NM_130809:exon9:c.G1299A:p.A433A exonic ENSG00000164244 NA synonymous SNV ENSG00000164244:ENST00000296666:exon9:c.G1299A:p.A433A,ENSG00000164244:ENST00000512635:exon9:c.G1299A:p.A433A NA NA 5q23.2 Score=680;Name=V$P53_01 NA NA NA rs7522 0.4 0.4 0.388 0.38778 0.2893 0.5506 0.4524 0.3185 0.3691 0.3 0.55 0.44 0.36 0.3421 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229504 NA NA 0.306628 0.305493 NA 0.377 NA 5.7286386 1079 12 32777362 32777362 G A exonic FGD4 NA synonymous SNV FGD4:NM_139241:exon12:c.G1518A:p.A506A exonic ENSG00000139132 NA synonymous SNV ENSG00000139132:ENST00000381025:exon8:c.G774A:p.A258A,ENSG00000139132:ENST00000546442:exon11:c.G1239A:p.A413A,ENSG00000139132:ENST00000427716:exon12:c.G1518A:p.A506A,ENSG00000139132:ENST00000525053:exon12:c.G1854A:p.A618A,ENSG00000139132:ENST00000531134:exon12:c.G1773A:p.A591A,ENSG00000139132:ENST00000534526:exon12:c.G1929A:p.A643A,ENSG00000139132:ENST00000266482:exon13:c.G774A:p.A258A Score=562;Name=lod=257 NA 12p11.21 NA NA NA NA rs11052110 0.23 0.23 0.235 0.251597 0.3191 0.1667 0.268 0.1536 0.3906 0.31 0.18 0.25 0.16 0.3076 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.888582 NA NA 0.31186 0.194961 NA 0.167 NA 5.7281066 1079 2 64327544 64327544 G T exonic PELI1 NA synonymous SNV PELI1:NM_020651:exon4:c.C291A:p.T97T exonic ENSG00000197329 NA synonymous SNV ENSG00000197329:ENST00000358912:exon4:c.C291A:p.T97T Score=633;Name=lod=500 NA 2p14 NA NA NA NA rs329498 0.37 0.37 0.353 0.355631 0.2992 0.752 0.3127 0.0885 0.3967 0.3 0.73 0.35 0.08 0.3365 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942026 NA NA 0.303837 0.137767 NA 0.333 NA 5.7271296 1079 2 171240249 171240249 C T exonic MYO3B NA synonymous SNV MYO3B:NM_001083615:exon12:c.C1215T:p.R405R,MYO3B:NM_138995:exon12:c.C1215T:p.R405R exonic ENSG00000071909 NA synonymous SNV ENSG00000071909:ENST00000317935:exon12:c.C1215T:p.R405R,ENSG00000071909:ENST00000334231:exon12:c.C1242T:p.R414R,ENSG00000071909:ENST00000408978:exon12:c.C1215T:p.R405R,ENSG00000071909:ENST00000409044:exon12:c.C1215T:p.R405R,ENSG00000071909:ENST00000484338:exon12:c.C1242T:p.R414R Score=554;Name=lod=237 NA 2q31.1 NA NA NA NA rs11675394 0.23 0.23 0.236 0.215455 0.325 0.2887 0.2493 0.0303 0.2536 0.32 0.26 0.27 0.04 0.2908 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035071 NA NA 0.325833 0.085737 ID=COSM1564691,COSM1564692;OCCURENCE=1(large_intestine) 0.188 NA 5.7250336 1080 2 141032088 141032088 C T exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon85:c.G13047A:p.T4349T exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon85:c.G13047A:p.T4349T NA NA 2q22.1 NA NA NA NA rs1386356 0.54 0.54 0.514 0.486222 0.665 0.6508 0.5735 0.1558 0.5174 0.67 0.67 0.57 0.19 0.6037 0.67 . . . . . . . . 0.000 P . . . . -0.958 T 0.000 T . 1.074 9.384 -2.23 -0.237 0.285 1.766 1.073697 NA NA 0.673256 0.256241 NA 0.5 NA 5.7247106 1080 17 7680159 7680159 G A exonic DNAH2 NA synonymous SNV DNAH2:NM_020877:exon31:c.G5010A:p.A1670A exonic ENSG00000183914 NA synonymous SNV ENSG00000183914:ENST00000389173:exon31:c.G5010A:p.A1670A,ENSG00000183914:ENST00000572933:exon32:c.G5010A:p.A1670A Score=583;Name=lod=313 NA 17p13.1 NA NA NA NA rs62059684 0.18 0.18 0.147 0.120407 0.3579 NA 0.2046 0.0113 0.0879 0.37 NA 0.26 0.02 0.2423 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317404 1.317404 NA 0.342093 0.065365 NA 0.174 NA 5.7243736 1080 2 96944553 96944553 G A exonic SNRNP200 NA synonymous SNV SNRNP200:NM_014014:exon37:c.C5317T:p.L1773L exonic ENSG00000144028 NA synonymous SNV ENSG00000144028:ENST00000429650:exon8:c.C898T:p.L300L,ENSG00000144028:ENST00000323853:exon37:c.C5317T:p.L1773L Score=615;Name=lod=423 NA 2q11.2 NA NA NA NA rs772175 0.31 0.31 0.258 0.246006 0.3101 0.4256 0.3242 0.0764 0.1687 0.33 0.46 0.3 0.09 0.3097 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801735 NA NA 0.322558 0.114163 NA 0.304 NA 5.7243086 1080 5 96062617 96062617 C T intronic CAST NA NA NA intronic ENSG00000153113 NA NA NA NA NA 5q15 NA Name=CEBPB Name=14 NA rs17478897 0.06 0.06 0.054 0.0567093 0.1382 NA 0.1023 0.0045 0.0695 0.13 NA 0.1 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046106 NA NA 0.137964 0.022399 NA 0.167 NA 5.723836 1080 13 21750890 21750890 G A intronic MRP63 NA NA NA intronic ENSG00000173141 NA NA NA NA NA 13q12.11 NA Name=TBP,c-Myc,ZEB1_(SC-25388),HEY1,NFKB,HA-E2F1,Pol2-4H8,Pol2(b),EBF,CTCF,EBF1_(C-8),CHD2_(N-1250),CEBPB,Oct-2,NRSF,Pol2,Pol2(phosphoS2),TAF7_(SQ-8),TAF1,POU2F2,ZBTB33 Name=148 NA rs9550716 0.28 0.28 0.303 0.317292 0.2763 0.1657 0.2219 0.4584 0.3926 0.26 0.19 0.25 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471642 NA NA NA NA NA 0.326 NA 5.7237 1080 4 185701549 185701549 G T exonic ACSL1 NA synonymous SNV ACSL1:NM_001995:exon5:c.C414A:p.I138I exonic ENSG00000151726 NA synonymous SNV ENSG00000151726:ENST00000281455:exon5:c.C414A:p.I138I,ENSG00000151726:ENST00000504342:exon5:c.C414A:p.I138I,ENSG00000151726:ENST00000504900:exon5:c.C414A:p.I138I,ENSG00000151726:ENST00000513317:exon5:c.C414A:p.I138I,ENSG00000151726:ENST00000515030:exon5:c.C414A:p.I138I Score=395;Name=lod=54 NA 4q35.1 NA NA NA NA rs1803898 0.18 0.18 0.175 0.160743 0.3489 0.0645 0.1729 0.0303 0.2342 0.35 0.07 0.22 0.03 0.259 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659216 NA NA 0.336047 0.073309 NA 0.174 NA 5.7227196 1080 12 31405170 31405170 A G intergenic DDX11,FAM60A dist=147445;dist=28350 NA NA ncRNA_exonic ENSG00000243517 NA NA NA Score=741;Name=lod=1365 NA 12p11.21 NA NA Name=19 NA rs670519 0.3 0.3 0.247 0.298922 0.2773 0.1944 0.2752 0.553 0.1022 0.26 0.18 0.25 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151116 NA NA NA NA NA 0.225 NA 5.7227 1080 14 74766080 74766080 T C intronic ABCD4 NA NA NA intronic ENSG00000119688 NA NA NA NA NA 14q24.3 NA Name=Max Name=67 NA rs2301346 0.19 0.19 0.188 0.170727 0.2773 0.1974 0.1686 0.0575 0.1881 0.28 0.17 0.18 0.06 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037647 NA NA NA NA NA 0.217 NA 5.7227 1080 8 6377433 6377433 C T exonic ANGPT2 NA synonymous SNV ANGPT2:NM_001118888:exon4:c.G726A:p.T242T,ANGPT2:NM_001118887:exon5:c.G879A:p.T293T,ANGPT2:NM_001147:exon5:c.G882A:p.T294T exonic ENSG00000091879 NA synonymous SNV ENSG00000091879:ENST00000338312:exon4:c.G726A:p.T242T,ENSG00000091879:ENST00000325203:exon5:c.G882A:p.T294T,ENSG00000091879:ENST00000415216:exon5:c.G879A:p.T293T,ENSG00000091879:ENST00000523120:exon5:c.G879A:p.T293T NA NA 8p23.1 Score=751;Name=V$TCF11MAFG_01 NA NA NA rs1961222 0.17 0.17 0.15 0.14976 0.3419 0.0516 0.2104 0.0121 0.1963 0.33 0.05 0.25 0.01 0.2648 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083956 NA NA 0.337558 0.060826 NA 0.159 NA 5.7224086 1080 14 77872977 77872977 C G intronic NOXRED1 NA NA NA intronic ENSG00000165555 NA NA NA NA NA 14q24.3 NA Name=GATA3_(SC-268) Name=38 NA rs80329306 NA NA NA 0.161542 0.2008 0.0298 0.1153 0.2504 0.1697 NA NA NA NA 0.0682 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189614 NA NA 0.008617 0.002498 NA 0.072 NA 5.722383 1080 19 4254375 4254375 C T exonic CCDC94 NA synonymous SNV CCDC94:NM_018074:exon4:c.C294T:p.Y98Y exonic ENSG00000105248 NA synonymous SNV ENSG00000105248:ENST00000262962:exon4:c.C294T:p.Y98Y,ENSG00000105248:ENST00000596496:exon4:c.C189T:p.Y63Y Score=525;Name=lod=181 NA 19p13.3 NA NA NA NA rs11085068 0.38 0.38 0.387 0.417732 0.3091 0.4435 0.2695 0.5083 0.4857 0.32 0.45 0.27 0.49 0.3469 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.953786 NA NA 0.288605 0.490695 ID=COSM148459;OCCURENCE=1(stomach) 0.377 NA 5.7220616 1080 12 121648132 121648132 G T intronic P2RX4 NA NA NA intronic ENSG00000135124 NA NA NA NA NA 12q24.31 NA Name=HMGN3,Pol2,E2F6,eGFP-JunD,NFKB,c-Myc,PAX5-N19,PAX5-C20,TBP,AP-2alpha,Pol2(b),ZNF263,Pol2-4H8,Sin3Ak-20,HA-E2F1 Name=144 NA rs28360467 0.05 0.05 0.051 0.0325479 0.0924 0.001 0.0706 0.0061 0.0123 0.1 0.0017 0.06 0.01 0.0974 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.658797 1.658797 NA 0.088907 0.015748 NA NA NA 5.721293 1080 12 131622735 131622735 T C exonic GPR133 NA synonymous SNV GPR133:NM_198827:exon24:c.T2490C:p.S830S exonic ENSG00000111452 NA synonymous SNV ENSG00000111452:ENST00000543617:exon11:c.T1047C:p.S349S,ENSG00000111452:ENST00000376682:exon16:c.T1548C:p.S516S,ENSG00000111452:ENST00000261654:exon24:c.T2490C:p.S830S,ENSG00000111452:ENST00000535015:exon25:c.T2586C:p.S862S NA NA 12q24.33 NA NA NA NA rs7302341 0.67 0.67 0.606 0.663938 0.6471 0.9306 0.7378 0.3495 0.7791 0.65 0.93 0.71 0.35 0.6714 0.93 . . . . . . . . 0.002 P . . . . -1.020 T 0.000 T . 0.2 5.077 -1.77 -0.786 -3.362 10.522 0.19983 NA NA 0.627442 0.418747 NA 0.457 NA 5.7207246 1080 19 41328196 41328196 C T intergenic RAB4B-EGLN2,CYP2A6 dist=13850;dist=21247 NA NA ncRNA_exonic ENSG00000237118 NA NA NA Score=439;Name=lod=81 NA 19q13.2 NA NA Name=3 NA rs34842714 0.27 0.27 0.216 0.278554 0.2793 0.375 0.4265 0.0295 0.41 0.28 0.38 0.37 0.05 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918097 NA NA NA NA NA 0.275 NA 5.7207 1080 15 42171537 42171537 A G exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon16:c.T3103C:p.C1035R exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon16:c.T3103C:p.C1035R NA NA 15q15.1 NA NA NA NA rs1197683 0.9 0.9 0.893 0.879992 0.8748 0.9712 0.8905 0.8578 0.8139 0.89 0.98 0.9 0.84 0.8744 0.98 0.9 T . . . . 0.853 N 1.000 P . . -0.5 T -0.956 T 0.000 T 0.031 -0.337 2.403 2.82 0.088 0.735 4.971 -0.337161 NA 0.87 0.863669 0.854053 NA 0.891 NA 5.7204644 1080 7 91570290 91570290 G C UTR5 AKAP9 NM_147185:c.-124G>C,NM_005751:c.-124G>C NA NA UTR5 ENSG00000127914 ENST00000356239:c.-124G>C,ENST00000358100:c.-124G>C,ENST00000359028:c.-124G>C,ENST00000394564:c.-124G>C NA NA NA NA 7q21.2 NA Name=AP-2alpha,Pol2(b),ZNF263,Pol2-4H8,HA-E2F1,Sin3Ak-20,YY1,PAX5-C20,HEY1,NFKB,CCNT2,TBP,HMGN3,TAF1,E2F6,YY1_(C-20),TAF7_(SQ-8),Pol2,ELF1_(SC-631),FOXA1_(SC-101058) Name=146 NA rs4727267 0.64 0.64 0.612 0.628594 0.6133 0.8383 0.6427 0.5008 0.591 0.61 0.83 0.62 0.49 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.42049 1.42049 NA NA NA NA 0.587 NA 5.7200334 1080 17 39092868 39092868 G A UTR5 KRT23 NM_015515:c.-13C>T NA NA ncRNA_UTR5 ENSG00000108244 NA NA NA NA NA 17q21.2 NA Name=TAF1,Pol2,TBP Name=19 NA rs2269858 0.32 0.32 0.287 0.322484 0.2396 0.4246 0.4251 0.2655 0.3067 0.24 0.46 0.39 0.24 0.3023 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713551 1.713551 NA 0.238324 0.238237 NA 0.261 NA 5.719776 1080 4 69885683 69885683 T C exonic UGT2B10 NA unknown UNKNOWN ncRNA_exonic ENSG00000251685 NA NA NA NA NA 4q13.2 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs148467728 0.03 0.03 0.012 0.0183706 0.0437 0.001 0.0519 0.003 0.0072 0.05 NA 0.05 0.002 0.0305 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067462 NA NA 0.039962 0.007948 NA 0.014 NA 5.7191713 1080 12 11286790 11286790 A C exonic TAS2R30 NA synonymous SNV TAS2R30:NM_001097643:exon1:c.T54G:p.V18V exonic ENSG00000256188 NA synonymous SNV ENSG00000256188:ENST00000539585:exon1:c.T54G:p.V18V NA NA 12p13.2 NA NA Name=15 NA rs2600355 0.36 0.36 0.305 0.351637 0.5109 0.1944 0.4712 0.357 0.2577 0.49 0.21 0.4 0.33 0.4366 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352485 NA NA NA NA NA 0.413 NA 5.7191666 1080 7 92734451 92734451 A G exonic SAMD9 NA synonymous SNV SAMD9:NM_001193307:exon2:c.T960C:p.Y320Y,SAMD9:NM_017654:exon3:c.T960C:p.Y320Y exonic ENSG00000205413 NA synonymous SNV ENSG00000205413:ENST00000446617:exon2:c.T960C:p.Y320Y,ENSG00000205413:ENST00000379958:exon3:c.T960C:p.Y320Y Score=278;Name=lod=18 NA 7q21.2 NA NA NA NA rs6965201 0.5 0.5 0.493 0.521166 0.2873 0.5188 0.4971 0.8359 0.3558 0.28 0.52 0.51 0.8 0.3733 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105537 NA NA 0.287209 0.731729 NA 0.5 NA 5.7188576 1080 2 38044344 38044344 C T intergenic CDC42EP3,RMDN2 dist=144666;dist=108118 NA NA ncRNA_exonic ENSG00000225402 NA NA NA Score=670;Name=lod=702 Name=Bone mineral density (spine) 2p22.2 NA NA NA NA rs4670779 0.22 0.22 0.184 0.205871 0.2813 0.2272 0.3084 0.0204 0.2843 0.29 0.26 0.28 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.413131 NA NA NA NA NA 0.152 NA 5.7187 1080 16 84623989 84623989 T C intronic COTL1 NA NA NA intronic ENSG00000103187 NA NA NA NA NA 16q24.1 NA Name=EBF1_(C-8) Name=4 NA rs2288584 0.2 0.2 0.204 0.155351 0.2813 0.2361 0.1744 0.0333 0.0941 0.29 0.25 0.19 0.03 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548272 NA NA NA NA NA 0.254 NA 5.7187 1080 14 96152728 96152728 T C upstream TCL1B NA NA NA ncRNA_intronic ENSG00000259084 NA NA NA NA NA 14q32.13 NA Name=Egr-1 Name=2 NA rs11160284 0.42 0.42 0.399 0.436901 0.4483 0.5536 0.3271 0.2791 0.5961 0.46 0.54 0.37 0.26 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118925 NA NA NA NA NA 0.174 NA 5.7183666 1080 19 38795250 38795250 G A UTR3 YIF1B NM_001145463:c.*879C>T,NM_001039673:c.*742C>T,NM_001039672:c.*742C>T,NM_001039671:c.*742C>T,NM_033557:c.*742C>T,NM_001145462:c.*742C>T,NM_001145461:c.*742C>T NA NA exonic ENSG00000167644,ENSG00000267748 NA nonsynonymous SNV ENSG00000167644:ENST00000588605:exon3:c.G184A:p.A62T NA NA 19q13.2 NA Name=HNF4G_(SC-6558),Pol2,HNF4A_(H-171),Ini1 NA NA rs45437199 0.18 0.18 0.149 0.176118 0.2207 0.1478 0.2507 0.0598 0.2638 0.23 0.15 0.26 0.07 0.2051 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467849 NA NA 0.190233 0.075806 NA 0.145 NA 5.7173004 1080 16 15133889 15133889 T G exonic NTAN1 NA synonymous SNV NTAN1:NM_001270767:exon6:c.A261C:p.A87A,NTAN1:NM_001270766:exon7:c.A261C:p.A87A,NTAN1:NM_173474:exon8:c.A576C:p.A192A exonic ENSG00000157045 NA synonymous SNV ENSG00000157045:ENST00000568320:exon6:c.A261C:p.A87A,ENSG00000157045:ENST00000287706:exon8:c.A576C:p.A192A,ENSG00000157045:ENST00000566419:exon8:c.A495C:p.A165A Score=410;Name=lod=62 NA 16p13.11 NA NA NA NA rs14347 0.33 0.33 0.283 0.344649 0.3072 0.372 0.5331 0.1846 0.4376 0.32 0.38 0.48 0.19 0.3419 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301996 1.301996 NA 0.30093 0.227583 NA 0.413 NA 5.7166366 1080 6 42942779 42942779 A G intronic PEX6 NA NA NA intronic ENSG00000124587 NA NA NA Score=355;Name=lod=37 NA 6p21.1 NA NA Name=19 NA rs9986447 0.3 0.3 0.286 0.289736 0.4592 0.1012 0.3401 0.2216 0.3661 0.46 0.12 0.35 0.21 0.3776 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686963 1.686963 NA 0.446744 0.2399 NA 0.254 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078578.1;CLNDSDB=.;CLNDSDBID=. 5.716456 1080 20 1285933 1285933 G A exonic SNPH NA synonymous SNV SNPH:NM_014723:exon6:c.G720A:p.G240G exonic ENSG00000101298 NA synonymous SNV ENSG00000101298:ENST00000381873:exon6:c.G720A:p.G240G,ENSG00000101298:ENST00000381867:exon7:c.G852A:p.G284G NA NA 20p13 Score=860;Name=V$GATA1_02 NA NA NA rs3795139 0.41 0.41 0.401 0.39397 0.3201 0.5407 0.3314 0.3979 0.3579 0.31 0.54 0.34 0.47 0.3419 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620788 NA NA 0.288359 0.380736 NA 0.326 NA 5.7163076 1080 3 49701298 49701298 G A exonic BSN NA nonsynonymous SNV BSN:NM_003458:exon8:c.G11587A:p.A3863T exonic ENSG00000164061 NA nonsynonymous SNV ENSG00000164061:ENST00000296452:exon8:c.G11587A:p.A3863T NA NA 3p21.31 NA NA NA NA rs2005557 0.61 0.61 0.598 0.640375 0.5099 0.9325 0.683 0.4032 0.7638 0.51 0.94 0.63 0.38 0.5906 0.94 1 T 0.0 B 0.0 B 0.955 N 1.000 P 0.345 N 2.25 T -0.951 T 0.000 T 0.014 0.322 5.748 1.26 0.010 0.707 1.03 0.32236 NA 0.87 0.516628 0.431911 ID=COSM1179807;OCCURENCE=1(prostate) 0.522 NA 5.7162054 1080 5 123983915 123983915 G T exonic ZNF608 NA nonsynonymous SNV ZNF608:NM_020747:exon4:c.C2162A:p.T721N exonic ENSG00000168916 NA nonsynonymous SNV ENSG00000168916:ENST00000306315:exon4:c.C2162A:p.T721N,ENSG00000168916:ENST00000504926:exon4:c.C881A:p.T294N NA NA 5q23.2 NA NA NA NA rs6862252 0.63 0.63 0.626 0.629992 0.5457 0.753 0.451 0.7065 0.6135 0.54 0.76 0.47 0.73 0.5625 0.76 0.58 T 0.0 B 0.0 B 0.032 N 1.000 P -0.55 N 0.98 T -1.006 T 0.000 T 0.012 -0.047 3.774 -0.826 -0.377 -0.204 7.473 -0.046942 NA 0.45 0.50907 0.656151 NA 0.659 NA 5.7160634 1080 19 4251069 4251069 T C exonic CCDC94 NA synonymous SNV CCDC94:NM_018074:exon3:c.T171C:p.N57N exonic ENSG00000105248 NA synonymous SNV ENSG00000105248:ENST00000262962:exon3:c.T171C:p.N57N,ENSG00000105248:ENST00000596496:exon3:c.T66C:p.N22N Score=528;Name=lod=186 NA 19p13.3 NA NA NA NA rs1045750 0.44 0.44 0.46 0.476238 0.3022 0.4464 0.2795 0.7262 0.4877 0.31 0.45 0.28 0.72 0.3628 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128191 NA NA 0.285814 0.666364 ID=COSM148458;OCCURENCE=1(stomach) 0.428 NA 5.7158526 1080 2 170129528 170129528 G A exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon15:c.C2025T:p.V675V exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000443831:exon14:c.C1818T:p.V606V,ENSG00000081479:ENST00000263816:exon15:c.C2025T:p.V675V Score=602;Name=lod=373 NA 2q31.1 NA NA NA NA rs830994 0.66 0.66 0.671 0.609625 0.661 0.8859 0.5014 0.5045 0.4908 0.66 0.87 0.55 0.49 0.6245 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.287532 1.287532 NA 0.665465 0.516568 NA 0.565 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117515.2;CLNDSDB=.;CLNDSDBID=. 5.7157016 1080 9 127616537 127616537 A G exonic WDR38 NA nonsynonymous SNV WDR38:NM_001276376:exon2:c.A29G:p.K10R exonic ENSG00000136918 NA synonymous SNV ENSG00000136918:ENST00000373574:exon2:c.A123G:p.E41E Score=401;Name=lod=57 NA 9q33.3 NA NA NA NA rs12375547 0.46 0.46 0.479 0.452676 0.4324 0.5804 0.3573 0.4803 0.3722 0.4 0.6 0.36 0.46 0.4199 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921346 NA NA 0.432137 0.48 NA 0.413 NA 5.715563 1081 9 134351343 134351343 C T exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C3827T:p.A1276V exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon15:c.C3827T:p.A1276V NA NA 9q34.13 NA NA NA NA rs11243403 0.36 0.36 0.362 0.335663 0.5586 0.1161 0.3228 0.3707 0.2945 0.55 0.11 0.37 0.36 0.4732 0.59 0.29 T 0.0 B 0.0 B . . 1.000 P -0.69 N 4.59 T -1.097 T 0.000 T 0.166 -0.589 1.36 0.799 -0.091 0.735 5.318 -0.588965 NA 0.34 0.587464 0.418693 NA 0.341 NA 5.7140694 1081 4 39978005 39978005 A G intronic PDS5A NA NA NA intronic ENSG00000121892 NA NA NA NA NA 4p14 NA Name=GATA-2,BCLAF1_(M33-P5B11),Pol2,eGFP-GATA2,AP-2gamma Name=3 NA rs35426579 0.17 0.17 0.128 0.149161 0.2863 0.0417 0.3055 0.0204 0.182 0.28 0.04 0.35 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507489 NA NA NA NA NA 0.232 NA 5.7137 1081 8 82433970 82433970 G A intergenic FABP4,FABP12 dist=38497;dist=3311 NA NA ncRNA_exonic ENSG00000237264,ENSG00000253374,ENSG00000253859 NA NA NA Score=745;Name=lod=1425 NA 8q21.13 NA Name=CEBPB,USF-1,TAL1_(SC-12984) NA NA rs62514765 0.3 0.3 0.286 0.336661 0.2863 0.1379 0.3963 0.4788 0.3589 0.27 0.13 0.36 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451934 1.451934 NA NA NA NA 0.297 NA 5.7137 1081 15 84958367 84958367 C T intergenic GOLGA6L4,DNM1P41 dist=44247;dist=87439 NA NA ncRNA_exonic ENSG00000235370 NA NA NA Score=300;Name=lod=22 NA 15q25.2 NA NA NA NA rs468120 0.21 0.21 0.114 0.208866 0.2863 0.3056 0.196 0.0416 0.2648 0.28 0.29 0.2 0.04 NA 0.29 0.51 T . . . . 0.045 N . . . . . . -0.978 T 0.000 T . -0.566 1.449 . 0.107 -0.204 3.629 -0.565513 NA 0.12 NA NA NA NA NA 5.7137 1081 9 136227017 136227017 G A intronic SURF2 NA NA NA intronic ENSG00000148291 NA NA NA NA NA 9q34.2 NA Name=Pol2-4H8,ZNF263 Name=14 NA rs2296809 0.08 0.08 0.079 0.0636981 0.1054 0.0952 0.0749 0.003 0.0624 0.1 0.09 0.09 NA 0.0775 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878229 NA NA 0.103837 0.022025 NA 0.094 NA 5.713263 1081 6 111587266 111587266 T C exonic KIAA1919 NA synonymous SNV KIAA1919:NM_153369:exon4:c.T501C:p.D167D exonic ENSG00000173214 NA synonymous SNV ENSG00000173214:ENST00000368847:exon4:c.T501C:p.D167D NA NA 6q21 NA Name=GATA-1,NF-YA,TAL1_(SC-12984),Pol2,c-Jun,eGFP-JunD,FOSL1_(SC-183),NF-YB Name=34 NA rs11153279 0.47 0.47 0.454 0.42512 0.672 0.4335 0.5476 0.0862 0.5337 0.66 0.46 0.57 0.1 0.5849 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.809077 NA NA 0.696628 0.186791 NA 0.478 NA 5.7131386 1081 12 117685270 117685270 G A exonic NOS1 NA synonymous SNV NOS1:NM_001204213:exon17:c.C1698T:p.H566H,NOS1:NM_001204214:exon17:c.C1698T:p.H566H,NOS1:NM_000620:exon18:c.C2706T:p.H902H,NOS1:NM_001204218:exon19:c.C2808T:p.H936H exonic ENSG00000089250 NA synonymous SNV ENSG00000089250:ENST00000317775:exon18:c.C2706T:p.H902H,ENSG00000089250:ENST00000338101:exon18:c.C2808T:p.H936H NA NA 12q24.22 Score=826;Name=V$CEBP_C NA NA NA rs1047735 0.36 0.36 0.339 0.346446 0.3151 0.502 0.5231 0.1982 0.2935 0.33 0.46 0.5 0.19 0.3365 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830664 NA NA 0.301948 0.175279 NA 0.362 NA 5.7131186 1081 19 49967981 49967981 T G exonic ALDH16A1 NA synonymous SNV ALDH16A1:NM_001145396:exon11:c.T1377G:p.V459V,ALDH16A1:NM_153329:exon12:c.T1530G:p.V510V exonic ENSG00000161618 NA synonymous SNV ENSG00000161618:ENST00000600265:exon2:c.T177G:p.V59V,ENSG00000161618:ENST00000540132:exon9:c.T1041G:p.V347V,ENSG00000161618:ENST00000433981:exon10:c.T1035G:p.V345V,ENSG00000161618:ENST00000455361:exon11:c.T1377G:p.V459V,ENSG00000161618:ENST00000293350:exon12:c.T1530G:p.V510V NA NA 19q13.33 Score=773;Name=V$PPARA_01 NA NA NA rs11558188 0.25 0.25 0.267 0.209864 0.335 0.005 0.2277 0.3396 0.1043 0.33 0.01 0.25 0.38 0.2683 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.69616 1.69616 NA 0.350465 0.310486 NA 0.268 NA 5.7129016 1081 20 44418564 44418564 A G exonic WFDC3 NA synonymous SNV WFDC3:NM_080614:exon2:c.T51C:p.S17S exonic ENSG00000124116 NA synonymous SNV ENSG00000124116:ENST00000372630:exon1:c.T51C:p.S17S,ENSG00000124116:ENST00000372632:exon1:c.T51C:p.S17S,ENSG00000124116:ENST00000243938:exon2:c.T51C:p.S17S Score=374;Name=lod=44 NA 20q13.12 NA NA NA NA rs3746493 0.65 0.65 0.634 0.626398 0.6561 0.6458 0.7507 0.6172 0.5 0.68 0.62 0.72 0.58 0.6435 0.72 . . . . . . . . 0.995 P . . . . -0.984 T 0.000 T . 0.995 9.062 0.933 0.009 -0.018 6.624 0.994677 NA NA 0.654419 0.640036 NA 0.659 NA 5.7126476 1081 11 123777498 123777498 C T exonic OR8D4 NA synonymous SNV OR8D4:NM_001005197:exon1:c.C360T:p.C120C exonic ENSG00000181518 NA synonymous SNV ENSG00000181518:ENST00000321355:exon1:c.C360T:p.C120C Score=441;Name=lod=83 NA 11q24.1 NA NA NA NA rs10893102 0.22 0.22 0.208 0.266573 0.3151 0.378 0.3271 0.0794 0.3119 0.26 0.29 0.24 0.06 0.3093 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877867 NA NA 0.329844 0.12693 NA NA NA 5.7124226 1081 3 66444697 66444697 A C intronic LRIG1 NA NA NA intronic ENSG00000144749 NA NA NA NA NA 3p14.1 NA Name=TAF1,PU.1,Pol2,Pol2-4H8,NFKB,PAX5-N19,TCF12 Name=10 NA rs17775391 0.39 0.39 0.368 0.360623 0.2883 0.744 0.2507 0.1498 0.4029 0.3 0.75 0.3 0.16 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236791 NA NA NA NA NA 0.355 NA 5.7117 1081 11 10500056 10500056 T C intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA Score=603;Name=lod=376 NA 11p15.4 NA NA NA NA rs73409951 0.12 0.12 0.127 0.135583 0.1014 0.0317 0.0821 0.2943 0.1012 0.1 0.02 0.09 0.31 0.0984 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.171852 2.171852 NA 0.088619 0.234076 NA 0.116 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079368.1;CLNDSDB=.;CLNDSDBID=. 5.711581 1081 14 105413204 105413204 G T exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C8584A:p.R2862S exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C8584A:p.R2862S NA NA 14q32.33 NA NA NA NA rs2582514 0.49 0.49 0.501 0.567093 0.5328 0.3899 0.5173 0.7065 0.6319 0.47 0.33 0.51 0.69 0.5477 0.71 0.74 T 0.0 B 0.0 B . . 1.000 P -2.22 N 5.81 T -1.102 T 0.000 T 0.018 -0.875 0.492 0.525 -0.439 0.000 5.562 -0.875121 NA 0.79 0.541345 0.70748 ID=COSM1368617;OCCURENCE=1(liver),1(large_intestine) 0.601 NA 5.7114884 1081 1 152975941 152975941 C G exonic SPRR3 NA nonsynonymous SNV SPRR3:NM_001097589:exon2:c.C445G:p.L149V,SPRR3:NM_005416:exon3:c.C445G:p.L149V exonic ENSG00000163209 NA nonsynonymous SNV ENSG00000163209:ENST00000295367:exon2:c.C445G:p.L149V,ENSG00000163209:ENST00000542696:exon2:c.C421G:p.L141V,ENSG00000163209:ENST00000331860:exon3:c.C445G:p.L149V,ENSG00000163209:ENST00000443178:exon3:c.C445G:p.L149V NA NA 1q21.3 NA NA NA NA rs1055935 0.6 0.6 0.626 0.583466 0.5328 0.6319 0.4496 0.7133 0.5051 0.53 0.66 0.49 0.73 0.5448 0.73 0.38 T 0.002 B 0.002 B . . 1.000 P -1.04 N 3.17 T -0.920 T 0.002 T 0.249 -1.624 0.013 -0.145 0.064 0.505 1.562 -1.623696 NA 1 0.544302 0.684748 NA 0.522 NA 5.7114314 1081 16 1279623 1279623 G A exonic TPSB2 NA synonymous SNV TPSB2:NM_024164:exon3:c.C177T:p.C59C exonic ENSG00000197253 NA synonymous SNV ENSG00000197253:ENST00000430512:exon3:c.C177T:p.C59C Score=387;Name=lod=50 NA 16p13.3 NA NA NA NA rs2230084 0.38 0.38 0.285 0.398762 0.333 0.6766 0.2579 0.3192 0.3875 0.32 0.66 0.22 0.24 0.3323 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198487 NA NA 0.291482 0.311598 NA NA NA 5.7098846 1081 19 4511453 4511453 G A exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.C2477T:p.A826V exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.C2477T:p.A826V NA NA 19p13.3 NA NA NA NA rs7255187 0.9 0.9 0.904 0.892372 0.8668 0.9752 0.8905 0.8555 0.8845 0.86 0.97 0.88 0.89 0.8851 0.97 0.82 T 0.0 B 0.001 B 0.522 N 1.000 P -2.24 N 4.13 T -1.011 T 0.000 T 0.027 -0.695 0.987 3.59 0.157 -0.082 7.926 -0.695069 NA 1 0.871728 0.865706 NA 0.312 NA 5.7097054 1081 17 16722266 16722266 C T intergenic USP32P1,KRT16P2 dist=14447;dist=11531 NA NA ncRNA_exonic ENSG00000226145 NA NA NA Score=663;Name=lod=657 NA 17p11.2 NA Name=CTCF,CTCFL_(SC-98982) NA NA rs2656363 0.16 0.16 0.152 0.154752 0.2903 0.0456 0.2378 0.0613 0.1953 0.29 0.03 0.23 0.05 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032794 NA NA NA NA NA 0.167 NA 5.7097 1081 17 21825565 21825565 G T ncRNA_exonic FAM27L NA NA NA ncRNA_exonic ENSG00000178130 NA NA NA NA NA 17p11.2 NA NA NA NA rs12453514 0.4 0.4 0.383 0.403954 0.3072 0.5903 0.4078 0.3949 0.3211 0.31 0.56 0.36 0.4 0.3505 0.56 0.52 T . . . . . . 0.718 P . . . . -0.899 T 0.000 T . -2.555 0.003 -0.317 -2.695 -1.138 . -2.555338 NA NA 0.299472 0.365586 NA 0.355 NA 5.7094946 1081 19 35136617 35136617 C T upstream SCGB2B3P NA NA NA ncRNA_exonic ENSG00000269811 NA NA NA NA NA 19q13.11 NA Name=NRSF Name=9 NA rs7260033 0.45 0.45 0.487 0.467252 0.4573 0.4147 0.402 0.556 0.4581 0.46 0.39 0.41 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472212 NA NA NA NA NA 0.507 NA 5.7093666 1081 11 65123246 65123246 T G intronic TIGD3 NA NA NA intronic ENSG00000173825 NA NA NA NA NA 11q13.1 NA Name=GATA2_(CG2-96),Nrf1,TAL1_(SC-12984),Pol2-4H8,ELF1_(SC-631),GABP,ETS1,PU.1,NRSF Name=82 NA rs612392 0.1 0.1 0.097 0.120208 0.0905 0.0774 0.1037 0.1331 0.1892 0.08 0.09 0.11 0.11 0.1066 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213669 NA NA 0.093786 0.134257 NA 0.109 NA 5.709114 1081 10 97106165 97106165 T C exonic SORBS1 NA synonymous SNV SORBS1:NM_006434:exon15:c.A1377G:p.L459L,SORBS1:NM_001034957:exon16:c.A1545G:p.L515L,SORBS1:NM_015385:exon19:c.A1773G:p.L591L,SORBS1:NM_024991:exon20:c.A1668G:p.L556L,SORBS1:NM_001034956:exon21:c.A1980G:p.L660L,SORBS1:NM_001034954:exon24:c.A2427G:p.L809L,SORBS1:NM_001034955:exon24:c.A2493G:p.L831L exonic ENSG00000095637 NA synonymous SNV ENSG00000095637:ENST00000371241:exon15:c.A1377G:p.L459L,ENSG00000095637:ENST00000371239:exon19:c.A1758G:p.L586L,ENSG00000095637:ENST00000371249:exon19:c.A1773G:p.L591L,ENSG00000095637:ENST00000306402:exon20:c.A1668G:p.L556L,ENSG00000095637:ENST00000371245:exon21:c.A1980G:p.L660L,ENSG00000095637:ENST00000607232:exon21:c.A3207G:p.L1069L,ENSG00000095637:ENST00000347291:exon22:c.A1863G:p.L621L,ENSG00000095637:ENST00000354106:exon22:c.A2337G:p.L779L,ENSG00000095637:ENST00000353505:exon23:c.A1980G:p.L660L,ENSG00000095637:ENST00000277982:exon24:c.A2493G:p.L831L,ENSG00000095637:ENST00000361941:exon24:c.A2427G:p.L809L,ENSG00000095637:ENST00000371227:exon24:c.A2289G:p.L763L,ENSG00000095637:ENST00000393949:exon24:c.A2337G:p.L779L,ENSG00000095637:ENST00000371246:exon26:c.A2493G:p.L831L,ENSG00000095637:ENST00000371247:exon26:c.A2427G:p.L809L Score=432;Name=lod=76 NA 10q24.1 NA NA NA NA rs726176 0.4 0.4 0.36 0.407947 0.3241 0.6696 0.451 0.205 0.4683 0.33 0.66 0.41 0.2 0.3555 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.28104 1.28104 NA 0.27814 0.207671 NA 0.348 NA 5.7089266 1081 1 171653207 171653207 C T intergenic MYOC,VAMP4 dist=31434;dist=16089 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA Name=PU.1,TAL1_(SC-12984),GATA-1 NA NA rs10913488 0.35 0.35 0.342 0.351038 0.2913 0.3641 0.2709 0.5166 0.2321 0.27 0.35 0.28 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229748 NA NA NA NA NA 0.384 NA 5.7087 1081 14 94103602 94103602 G A exonic UNC79 NA synonymous SNV UNC79:NM_020818:exon33:c.G5343A:p.T1781T exonic ENSG00000133958 NA synonymous SNV ENSG00000133958:ENST00000555664:exon32:c.G5757A:p.T1919T,ENSG00000133958:ENST00000256339:exon33:c.G5343A:p.T1781T,ENSG00000133958:ENST00000393151:exon33:c.G5874A:p.T1958T,ENSG00000133958:ENST00000553484:exon34:c.G5940A:p.T1980T Score=507;Name=lod=154 NA 14q32.12 Score=788;Name=V$TAXCREB_01 NA NA NA rs4905082 0.53 0.53 0.517 0.505192 0.674 0.3849 0.6585 0.3472 0.5603 0.68 0.39 0.69 0.35 0.6074 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928774 NA NA 0.676628 0.385384 NA 0.63 NA 5.7086386 1081 11 47434986 47434986 G A exonic SLC39A13 NA synonymous SNV SLC39A13:NM_001128225:exon5:c.G573A:p.A191A,SLC39A13:NM_152264:exon5:c.G573A:p.A191A exonic ENSG00000165915 NA synonymous SNV ENSG00000165915:ENST00000524928:exon4:c.G573A:p.A191A,ENSG00000165915:ENST00000354884:exon5:c.G573A:p.A191A,ENSG00000165915:ENST00000362021:exon5:c.G573A:p.A191A,ENSG00000165915:ENST00000526614:exon5:c.G573A:p.A191A,ENSG00000165915:ENST00000533076:exon5:c.G573A:p.A191A NA NA 11p11.2 Score=867;Name=V$YY1_01 NA NA NA rs2293576 0.24 0.24 0.235 0.270567 0.3111 0.3988 0.2147 0.0136 0.4836 0.31 0.33 0.22 0.02 0.3116 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105277 NA NA 0.336087 0.069514 NA 0.217 NA 5.7078796 1081 15 91009381 91009381 G A intronic IQGAP1 NA NA NA intronic ENSG00000140575 NA NA NA NA NA 15q26.1 NA Name=c-Fos Name=53 NA rs2074584 0.43 0.43 0.415 0.46266 0.2922 0.6468 0.5317 0.3646 0.5317 0.29 0.64 0.46 0.38 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340442 NA NA NA NA NA 0.435 NA 5.7078 1081 16 85720955 85720955 G A intronic GINS2 NA NA NA intronic ENSG00000131153 NA NA NA NA NA 16q24.1 NA Name=ZNF263,Sin3Ak-20,Egr-1,c-Myc Name=19 NA rs3815797 0.19 0.19 0.186 0.159145 0.2922 0.1994 0.1888 0.0151 0.1544 0.27 0.21 0.2 0.02 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333086 NA NA NA NA NA 0.181 NA 5.7078 1081 3 140407260 140407260 C A exonic TRIM42 NA nonsynonymous SNV TRIM42:NM_152616:exon3:c.C1736A:p.A579E exonic ENSG00000155890 NA nonsynonymous SNV ENSG00000155890:ENST00000286349:exon3:c.C1736A:p.A579E NA NA 3q23 NA NA NA NA rs9876490 0.43 0.43 0.422 0.402756 0.5328 0.3899 0.5072 0.2723 0.3845 0.52 0.36 0.49 0.3 0.5137 0.58 0.18 T 0.01 B 0.021 B 0.381 U 1.000 P 0.345 N 1.09 T -0.915 T 0.000 T 0.225 0.231 5.246 -1.19 -0.118 0.208 5.163 0.230904 NA 0.1 0.579302 0.313663 NA 0.413 NA 5.7075314 1081 8 110420429 110420429 A G exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon18:c.A1965G:p.E655E exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000378402:exon18:c.A1965G:p.E655E Score=437;Name=lod=80 NA 8q23.1 NA NA NA NA rs13252234 0.32 0.32 0.277 0.314097 0.3111 0.3929 0.4741 0.1551 0.3374 0.31 0.41 0.42 0.17 0.3302 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590733 NA NA 0.317941 0.188139 NA 0.297 NA 5.7074256 1081 8 8234218 8234218 C T exonic SGK223 NA synonymous SNV SGK223:NM_001080826:exon2:c.G1701A:p.P567P exonic ENSG00000182319 NA synonymous SNV ENSG00000182319:ENST00000330777:exon2:c.G1701A:p.P567P,ENSG00000182319:ENST00000520004:exon3:c.G1701A:p.P567P NA NA 8p23.1 NA Name=Pol2 NA NA rs4840954 0.41 0.41 0.399 0.453674 0.3002 0.6409 0.4323 0.3896 0.5204 0.28 0.64 0.36 0.39 0.3859 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159558 NA NA 0.273308 0.322525 NA NA NA 5.7072586 1081 14 20824181 20824181 T C exonic PARP2 NA synonymous SNV PARP2:NM_001042618:exon11:c.T1092C:p.Y364Y,PARP2:NM_005484:exon11:c.T1131C:p.Y377Y exonic ENSG00000129484 NA synonymous SNV ENSG00000129484:ENST00000250416:exon11:c.T1131C:p.Y377Y,ENSG00000129484:ENST00000429687:exon11:c.T1092C:p.Y364Y,ENSG00000129484:ENST00000527915:exon11:c.T1131C:p.Y377Y NA NA 14q11.2 NA NA NA NA rs3093930 0.58 0.58 0.564 0.510583 0.675 0.6002 0.6225 0.2867 0.4724 0.68 0.65 0.64 0.29 0.6122 0.68 . . . . . . . . 0.000 P . . . . . . . . . -0.203 3.016 2.32 0.150 -0.093 5.633 -0.202879 NA NA 0.672384 0.351081 NA 0.514 NA 5.7070826 1081 2 180348245 180348245 T G intronic ZNF385B NA NA NA intronic ENSG00000144331 NA NA NA Score=765;Name=lod=1714 NA 2q31.2 Score=794;Name=V$POU3F2_01 NA NA NA rs2271759 0.37 0.37 0.371 0.359425 0.2932 0.4722 0.2925 0.4123 0.2873 0.3 0.45 0.31 0.42 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719081 1.719081 NA NA NA NA 0.304 NA 5.7068 1081 3 75385314 75385314 C T intergenic MIR4444-1,FAM86DP dist=121615;dist=85389 NA NA ncRNA_exonic ENSG00000228868 NA NA NA Score=508;Name=lod=155 NA 3p12.3 Score=820;Name=V$FREAC2_01 NA NA NA rs4552385 0.32 0.32 0.315 0.34345 0.2932 0.1905 0.2378 0.5749 0.3149 0.3 0.18 0.27 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696627 NA 0.02 NA NA NA 0.312 NA 5.7068 1081 2 242572846 242572846 A G exonic THAP4 NA synonymous SNV THAP4:NM_015963:exon2:c.T726C:p.S242S exonic ENSG00000176946 NA synonymous SNV ENSG00000176946:ENST00000407315:exon2:c.T726C:p.S242S Score=405;Name=lod=59 NA 2q37.3 NA NA NA NA rs3208142 0.4 0.4 0.404 0.428115 0.3181 0.5665 0.3429 0.41 0.4836 0.31 0.56 0.33 0.42 0.3411 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298307 NA NA 0.300978 0.371766 NA 0.478 NA 5.7064886 1081 X 135430044 135430044 T C exonic GPR112 NA synonymous SNV GPR112:NM_153834:exon6:c.T4179C:p.T1393T exonic ENSG00000156920 NA synonymous SNV ENSG00000156920:ENST00000394141:exon3:c.T3564C:p.T1188T,ENSG00000156920:ENST00000412101:exon3:c.T3564C:p.T1188T,ENSG00000156920:ENST00000287534:exon4:c.T3990C:p.T1330T,ENSG00000156920:ENST00000370652:exon4:c.T4179C:p.T1393T,ENSG00000156920:ENST00000394143:exon6:c.T4179C:p.T1393T NA NA Xq26.3 NA NA Name=5 NA rs877761 0.51 0.51 0.5318 NA NA NA NA NA NA 0.48 0.37 0.47 0.76 0.4804 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.473586 NA NA 0.480232 0.750456 NA 0.362 NA 5.7060346 1081 18 61164602 61164602 T C intronic SERPINB5 NA NA NA ncRNA_exonic ENSG00000214318 NA NA NA Score=678;Name=lod=761 NA 18q21.33 NA Name=Pol2(b) NA NA rs6567365 0.56 0.56 0.512 0.516773 0.6282 0.6022 0.5706 0.4017 0.4315 0.63 0.57 0.6 0.4 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346995 NA NA NA NA NA 0.478 NA 5.7051333 1082 16 16291971 16291971 C T exonic ABCC6 NA synonymous SNV ABCC6:NM_001171:exon10:c.G1245A:p.V415V exonic ENSG00000091262 NA synonymous SNV ENSG00000091262:ENST00000205557:exon10:c.G1245A:p.V415V,ENSG00000091262:ENST00000456970:exon10:c.G1245A:p.V415V Score=514;Name=lod=164 NA 16p13.11 NA NA NA NA rs9940825 0.24 0.24 0.224 0.232228 0.3191 0.0972 0.3084 0.2466 0.2086 0.33 0.08 0.28 0.25 0.3067 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067063 NA NA 0.336241 0.246928 NA 0.167 NA 5.7046256 1082 3 148759325 148759325 T C exonic HLTF NA synonymous SNV HLTF:NM_003071:exon20:c.A2328G:p.A776A,HLTF:NM_139048:exon20:c.A2328G:p.A776A exonic ENSG00000071794 NA synonymous SNV ENSG00000071794:ENST00000467858:exon6:c.A732G:p.A244A,ENSG00000071794:ENST00000310053:exon20:c.A2328G:p.A776A,ENSG00000071794:ENST00000392912:exon20:c.A2328G:p.A776A,ENSG00000071794:ENST00000465259:exon20:c.A2325G:p.A775A,ENSG00000071794:ENST00000494055:exon20:c.A2328G:p.A776A Score=613;Name=lod=413 NA 3q24 NA NA NA NA rs2290725 0.32 0.32 0.317 0.315695 0.337 0.3353 0.3098 0.32 0.272 0.32 0.33 0.32 0.3 0.3187 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.368751 1.368751 NA 0.30686 0.302088 NA 0.29 NA 5.7041066 1082 2 236957822 236957822 G A exonic AGAP1 NA nonsynonymous SNV AGAP1:NM_014914:exon15:c.G1852A:p.V618I,AGAP1:NM_001037131:exon16:c.G2011A:p.V671I exonic ENSG00000157985 NA nonsynonymous SNV ENSG00000157985:ENST00000428334:exon12:c.G1528A:p.V510I,ENSG00000157985:ENST00000336665:exon15:c.G1852A:p.V618I,ENSG00000157985:ENST00000409538:exon15:c.G2647A:p.V883I,ENSG00000157985:ENST00000304032:exon16:c.G2011A:p.V671I NA NA 2q37.2 NA NA NA NA rs2034648 0.69 0.69 0.684 0.690495 0.5119 0.7282 0.7219 0.9372 0.4796 0.51 0.74 0.69 0.9 0.602 0.9 0.51 T 0.0 B 0.003 B 0.021 N 1.000 P 1.67 L 0.98 T -1.004 T 0.000 T 0.12 1.08 9.407 0.316 -0.472 0.623 5.408 1.079584 NA 0.42 0.516163 0.863368 NA 0.703 NA 5.7032704 1082 8 90958422 90958422 T C exonic NBN NA synonymous SNV NBN:NM_002485:exon13:c.A2016G:p.P672P exonic ENSG00000104320 NA synonymous SNV ENSG00000104320:ENST00000265433:exon13:c.A2016G:p.P672P,ENSG00000104320:ENST00000409330:exon13:c.A1770G:p.P590P NA NA 8q21.3 NA Name=Rad21 NA NA rs1061302 0.33 0.33 0.287 0.352835 0.3062 0.4673 0.3761 0.2156 0.4519 0.31 0.46 0.34 0.2 0.3451 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.132521 NA NA 0.313169 0.227644 NA 0.333 NA 5.7021976 1082 6 72889472 72889472 A G exonic RIMS1 NA synonymous SNV RIMS1:NM_014989:exon5:c.A666G:p.L222L exonic ENSG00000079841 NA synonymous SNV ENSG00000079841:ENST00000264839:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000348717:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000491071:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000517960:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000518273:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000520567:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000521978:exon5:c.A666G:p.L222L,ENSG00000079841:ENST00000522291:exon5:c.A666G:p.L222L Score=444;Name=lod=85 NA 6q13 Score=760;Name=V$HEN1_02 NA NA NA rs2249021 0.75 0.75 0.732 0.751797 0.6501 0.8323 0.7104 0.8283 0.6994 0.67 0.85 0.69 0.83 0.6762 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.236979 1.236979 NA 0.638386 0.79661 NA 0.681 NA 5.7019806 1082 1 47182206 47182206 C T intronic EFCAB14 NA NA NA intronic ENSG00000159658 NA NA NA Score=251;Name=lod=14 NA 1p33 Score=886;Name=V$GATA1_03 NA NA NA rs3737731 0.31 0.31 0.277 0.27496 0.2982 0.3353 0.3602 0.208 0.2188 0.28 0.33 0.38 0.28 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.000318 3.000318 NA NA NA NA 0.217 NA 5.7018 1082 2 210012330 210012330 G T intergenic PTH2R,MAP2 dist=653099;dist=276441 NA NA ncRNA_exonic ENSG00000232799 NA NA NA Score=625;Name=lod=464 NA 2q34 Score=867;Name=V$NFE2_01 NA NA NA rs2005352 0.27 0.27 0.267 0.247005 0.2982 0.3343 0.2421 0.1762 0.2035 0.3 0.31 0.25 0.18 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485031 NA NA NA NA NA 0.203 NA 5.7018 1082 1 19184077 19184077 A G exonic TAS1R2 NA synonymous SNV TAS1R2:NM_152232:exon2:c.T231C:p.F77F exonic ENSG00000179002 NA synonymous SNV ENSG00000179002:ENST00000375371:exon2:c.T231C:p.F77F Score=541;Name=lod=210 NA 1p36.13 NA NA NA NA rs68081213 0.28 0.28 0.279 0.275759 0.326 0.1052 0.2853 0.3631 0.2751 0.33 0.1 0.32 0.37 0.3036 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915105 NA NA 0.335698 0.329324 NA 0.428 NA 5.7013686 1082 12 53241626 53241626 A G intronic KRT78 NA NA NA intronic ENSG00000170423 NA NA NA NA NA 12q13.13 NA Name=CTCF Name=29 NA rs11170287 0.13 0.13 0.115 0.0982428 0.2992 NA 0.1484 0.0091 0.0777 0.29 NA 0.16 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362989 NA NA NA NA NA 0.036 NA 5.7008 1082 3 97887865 97887865 G A exonic OR5H15 NA nonsynonymous SNV OR5H15:NM_001005515:exon1:c.G322A:p.V108I exonic ENSG00000233412 NA nonsynonymous SNV ENSG00000233412:ENST00000356526:exon1:c.G322A:p.V108I NA NA 3q11.2 NA NA NA NA rs4133320 0.58 0.58 0.606 0.591054 0.5338 0.5079 0.572 0.7247 0.5685 0.54 0.56 0.53 0.72 0.5584 0.72 0.59 T 0.007 B 0.003 B 0.946 N 1.000 P 0.82 L 7.57 T -1.097 T 0.000 T 0.019 -1.918 0.008 1.59 0.287 0.630 8.259 -1.917797 NA 0.54 0.5406 0.693827 NA 0.478 NA 5.7005334 1082 11 33640104 33640104 A C exonic KIAA1549L NA synonymous SNV KIAA1549L:NM_012194:exon15:c.A4414C:p.R1472R exonic ENSG00000110427 NA synonymous SNV ENSG00000110427:ENST00000321505:exon15:c.A4414C:p.R1472R,ENSG00000110427:ENST00000389726:exon15:c.A4432C:p.R1478R Score=634;Name=lod=504 NA 11p13 Score=840;Name=V$GRE_C NA NA NA rs768474 0.75 0.75 0.757 0.745607 0.6292 0.747 0.6441 0.9728 0.6288 0.65 0.76 0.67 0.97 0.6865 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.367966 1.367966 NA 0.650475 0.915501 NA 0.601 NA 5.7004916 1082 4 113359703 113359703 A G exonic ALPK1 NA synonymous SNV ALPK1:NM_001253884:exon12:c.A3018G:p.R1006R,ALPK1:NM_001102406:exon13:c.A3252G:p.R1084R,ALPK1:NM_025144:exon13:c.A3252G:p.R1084R exonic ENSG00000073331 NA synonymous SNV ENSG00000073331:ENST00000504176:exon12:c.A3018G:p.R1006R,ENSG00000073331:ENST00000177648:exon13:c.A3252G:p.R1084R,ENSG00000073331:ENST00000458497:exon13:c.A3252G:p.R1084R Score=489;Name=lod=130 NA 4q25 Score=880;Name=V$GATA1_05 NA NA NA rs231247 0.68 0.68 0.699 0.661342 0.6551 0.7004 0.5749 0.7511 0.5675 0.66 0.73 0.57 0.73 0.6553 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898188 NA NA 0.655814 0.72719 NA 0.63 NA 5.7004526 1082 19 40366362 40366362 G C exonic FCGBP NA synonymous SNV FCGBP:NM_003890:exon30:c.C13872G:p.L4624L exonic ENSG00000090920 NA synonymous SNV ENSG00000090920:ENST00000221347:exon30:c.C13872G:p.L4624L NA NA 19q13.2 NA Name=HA-E2F1,E2F6_(H-50),CTCF Name=15 NA rs3855679 0.72 0.72 0.7 0.7502 0.6431 0.7857 0.598 0.9002 0.729 0.64 0.78 0.59 0.87 0.6759 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.260452 NA NA 0.647278 0.867333 NA 0.688 NA 5.7003886 1082 14 106791006 106791006 C T intergenic LINC00226,LINC00221 dist=46040;dist=147449 NA NA exonic ENSG00000211953 NA nonsynonymous SNV ENSG00000211953:ENST00000390613:exon2:c.G350A:p.R117K Score=458;Name=lod=97 NA 14q32.33 NA Name=CTCF NA NA rs10148365 NA NA 0.586 0.537939 0.5895 0.4772 0.5749 0.5416 0.5164 NA NA NA NA 0.5439 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134746 NA 0.42 NA NA NA 0.217 NA 5.6999334 1082 2 220380125 220380125 G A intronic ASIC4 NA NA NA ncRNA_intronic ENSG00000227432 NA NA NA Score=389;Name=lod=51 NA 2q35 Score=1000;Name=V$STAT3_02 NA NA NA rs1872858 0.56 0.56 0.53 0.496006 0.6342 0.7659 0.5591 0.1551 0.4918 0.65 0.75 0.54 0.2 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.369148 3.369148 NA NA NA NA 0.58 NA 5.6991333 1082 6 133136041 133136041 C G intronic RPS12 NA NA NA intronic ENSG00000112306 NA NA NA NA NA 6q23.2 NA Name=Pol2 Name=20 NA rs9493451 0.34 0.34 0.326 0.365415 0.3012 0.2282 0.536 0.4402 0.3507 0.29 0.24 0.52 0.41 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822879 NA NA NA NA NA 0.297 NA 5.6988 1082 1 161721707 161721707 C T exonic DUSP12 NA synonymous SNV DUSP12:NM_007240:exon3:c.C510T:p.Y170Y exonic ENSG00000081721 NA synonymous SNV ENSG00000081721:ENST00000367943:exon3:c.C510T:p.Y170Y Score=538;Name=lod=204 NA 1q23.3 NA NA NA NA rs1063178 0.36 0.36 0.367 0.360024 0.2922 0.4831 0.2464 0.407 0.32 0.29 0.47 0.29 0.39 0.3399 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500102 NA NA 0.33593 0.389242 NA 0.275 NA 5.6986366 1082 16 58757683 58757683 A G exonic GOT2 NA synonymous SNV GOT2:NM_002080:exon2:c.T213C:p.N71N exonic ENSG00000125166 NA synonymous SNV ENSG00000125166:ENST00000245206:exon2:c.T213C:p.N71N,ENSG00000125166:ENST00000434819:exon2:c.T213C:p.N71N Score=704;Name=lod=964 NA 16q21 Score=900;Name=V$GATA1_03 NA NA NA rs257636 0.67 0.67 0.676 0.689497 0.661 0.6032 0.7594 0.8238 0.5767 0.63 0.58 0.74 0.8 0.6585 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.09112 NA NA 0.648837 0.790264 NA 0.775 NA 5.6983296 1082 17 39684410 39684410 G A exonic KRT19 NA synonymous SNV KRT19:NM_002276:exon1:c.C90T:p.A30A exonic ENSG00000171345 NA synonymous SNV ENSG00000171345:ENST00000361566:exon1:c.C90T:p.A30A,ENSG00000171345:ENST00000455635:exon1:c.C90T:p.A30A NA NA 17q21.2 NA Name=c-Myc,ZNF263,Pol2-4H8,Pol2 NA NA rs11550883 0.68 0.68 0.642 0.684105 0.6402 0.9177 0.7709 0.4183 0.7863 0.63 0.93 0.72 0.42 0.689 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432907 1.432907 NA 0.639427 0.481535 ID=COSM436587;OCCURENCE=1(breast) 0.674 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056950.1;CLNDSDB=.;CLNDSDBID=. 5.6980396 1082 9 130660232 130660232 T C intronic ST6GALNAC6 NA NA NA intronic ENSG00000160408 NA NA NA Score=540;Name=lod=209 NA 9q34.11 NA Name=ZNF263,USF-1 NA NA rs3758330 0.09 0.09 0.081 0.114018 0.0805 0.1488 0.0821 0.0446 0.229 0.08 0.15 0.07 0.07 0.1292 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.622866 2.622866 NA 0.092463 0.047435 NA 0.058 NA 5.697837 1082 6 47682604 47682604 A C exonic GPR115 NA nonsynonymous SNV GPR115:NM_153838:exon6:c.A1623C:p.K541N exonic ENSG00000153294 NA nonsynonymous SNV ENSG00000153294:ENST00000283303:exon6:c.A1623C:p.K541N,ENSG00000153294:ENST00000327753:exon6:c.A1623C:p.K541N,ENSG00000153294:ENST00000371220:exon7:c.A1794C:p.K598N NA NA 6p12.3 NA NA NA NA rs9369738 0.83 0.83 0.814 0.824481 0.8867 0.8671 0.8991 0.6831 0.8548 0.87 0.87 0.9 0.68 0.8637 0.9 0.57 T 0.294 B 0.151 B 0.016 N 1.000 P 0.335 N 0.86 T -1.018 T 0.018 T 0.008 -0.356 2.32 -1.48 -0.452 -1.706 0.830 -0.355831 NA 0.45 0.885116 0.70404 NA 0.797 NA 5.6978174 1082 22 18084033 18084033 C T intronic ATP6V1E1 NA NA NA intronic ENSG00000131100 NA NA NA NA NA 22q11.21 NA Name=GATA3_(SC-268),GATA-2 Name=16 NA rs3747023 0.3 0.3 0.308 0.281949 0.3022 0.2113 0.2896 0.4107 0.1544 0.3 0.2 0.3 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372268 NA NA NA NA NA 0.355 NA 5.6978 1082 3 187447032 187447032 G A exonic BCL6 NA synonymous SNV BCL6:NM_001134738:exon4:c.C1161T:p.N387N,BCL6:NM_001130845:exon5:c.C1161T:p.N387N,BCL6:NM_001706:exon5:c.C1161T:p.N387N exonic ENSG00000113916 NA synonymous SNV ENSG00000113916:ENST00000450123:exon4:c.C1161T:p.N387N,ENSG00000113916:ENST00000232014:exon5:c.C1161T:p.N387N,ENSG00000113916:ENST00000406870:exon5:c.C1161T:p.N387N Score=618;Name=lod=432 NA 3q27.3 Score=850;Name=V$MRF2_01 NA NA NA rs1056932 0.61 0.61 0.563 0.565296 0.672 0.7956 0.7536 0.1104 0.6994 0.66 0.84 0.74 0.17 0.6435 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560869 NA NA 0.654419 0.190876 NA 0.601 NA 5.6967476 1082 10 65225450 65225450 C T ncRNA_exonic JMJD1C-AS1 NA NA NA UTR5 ENSG00000171988 ENST00000399262:c.-28G>A,ENST00000399251:c.-248463G>A NA NA NA NA 10q21.3 NA Name=Pol2-4H8,YY1,YY1_(C-20) Name=144 NA rs1054693 0.14 0.14 0.148 0.117412 0.2873 0.0149 0.1556 0.025 0.1462 0.31 0.01 0.16 0.03 0.2407 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.392407 2.392407 NA 0.276056 0.047465 NA 0.123 NA 5.695944 1082 3 184299167 184299167 T C exonic EPHB3 NA synonymous SNV EPHB3:NM_004443:exon15:c.T2859C:p.S953S exonic ENSG00000182580 NA synonymous SNV ENSG00000182580:ENST00000330394:exon15:c.T2859C:p.S953S Score=505;Name=lod=150 NA 3q27.1 NA NA NA NA rs1138510 0.32 0.32 0.328 0.33147 0.3469 0.1677 0.2435 0.5499 0.2515 0.32 0.17 0.28 0.54 0.3079 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123418 NA NA 0.316047 0.524739 NA 0.355 NA 5.6958196 1082 10 12154833 12154833 C T intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA Name=PU.1,NFKB Name=16 NA rs1701470 0.42 0.42 0.391 0.416134 0.3042 0.498 0.4827 0.5968 0.1554 0.3 0.49 0.44 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10927 NA NA NA NA NA 0.391 NA 5.6958 1082 9 138515929 138515929 G T UTR3 GLT6D1 NM_182974:c.*14C>A NA NA UTR3 ENSG00000204007 ENST00000371763:c.*14C>A NA NA Score=378;Name=lod=46 NA 9q34.3 NA Name=STAT3 NA NA rs12336965 0.21 0.21 0.21 0.222644 0.2018 0.2202 0.2363 0.264 0.181 0.19 0.21 0.23 0.23 0.2211 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079788 NA NA 0.214913 0.241453 NA 0.239 NA 5.6955204 1083 12 112667675 112667675 T G exonic HECTD4 NA synonymous SNV HECTD4:NM_001109662:exon41:c.A5944C:p.R1982R exonic ENSG00000173064 NA synonymous SNV ENSG00000173064:ENST00000377560:exon40:c.A5830C:p.R1944R,ENSG00000173064:ENST00000430131:exon40:c.A5080C:p.R1694R,ENSG00000173064:ENST00000550722:exon41:c.A5908C:p.R1970R Score=454;Name=lod=93 NA 12q24.13 NA NA NA NA rs1005902 0.6 0.6 0.599 0.628195 0.2614 0.8899 0.4078 0.8502 0.592 0.26 0.91 0.46 0.86 0.4421 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47264 1.47264 NA 0.268177 0.749224 NA 0.58 NA 5.6949896 1083 22 41460489 41460489 C T intergenic RBX1,MIR1281 dist=91470;dist=28028 NA NA ncRNA_exonic ENSG00000237214 NA NA NA Score=767;Name=lod=1742 NA 22q13.2 NA Name=CTCF_(SC-5916) NA NA rs9611487 0.23 0.23 0.125 0.242412 0.3052 0.0536 0.5288 0.1059 0.3538 0.31 0.06 0.51 0.11 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9366 NA NA NA NA NA 0.297 NA 5.6948 1083 17 2966273 2966273 G A exonic OR1D5 NA nonsynonymous SNV OR1D5:NM_014566:exon1:c.C629T:p.P210L exonic ENSG00000262628 NA nonsynonymous SNV ENSG00000262628:ENST00000575751:exon1:c.C629T:p.P210L NA NA 17p13.3 NA NA NA NA rs2676567 NA NA NA 0.271166 0.331 0.0228 0.2968 0.3843 0.2945 NA NA NA NA 0.3078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.329006 1.329006 0.03 NA NA NA NA NA 5.6945334 1083 19 49540093 49540093 A C UTR5 CGB1 NM_033377:c.-125T>G NA NA UTR5 ENSG00000267335,ENSG00000267631 ENST00000591656:c.-13260T>G,ENST00000604577:c.-125T>G;ENST00000601167:c.-560T>G NA NA NA NA 19q13.33 NA Name=EBF1_(C-8),CTCF,Rad21,TCF4,SP1,CTCFL_(SC-98982),NF-YA,CTCF_(C-20),c-Fos,JunD Name=24 NA rs10853805 0.62 0.62 0.608 0.649161 0.6392 0.379 0.6455 0.8933 0.6104 0.63 0.38 0.64 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280851 NA NA NA NA NA 0.746 NA 5.6941334 1083 17 33510656 33510656 A G intronic UNC45B NA NA NA intronic ENSG00000141161 NA NA NA NA NA 17q12 NA Name=EBF1_(C-8),EBF Name=9 NA rs8074705 0.3 0.3 0.299 0.279952 0.3062 0.2579 0.2291 0.3321 0.2413 0.32 0.28 0.24 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296612 NA NA NA NA ID=COSN165391;OCCURENCE=1(NS) 0.341 NA 5.6938 1083 17 41245466 41245466 G A exonic BRCA1 NA synonymous SNV BRCA1:NM_007297:exon9:c.C1941T:p.S647S,BRCA1:NM_007294:exon10:c.C2082T:p.S694S,BRCA1:NM_007300:exon10:c.C2082T:p.S694S exonic ENSG00000012048 NA synonymous SNV ENSG00000012048:ENST00000309486:exon9:c.C1194T:p.S398S,ENSG00000012048:ENST00000493795:exon9:c.C1941T:p.S647S,ENSG00000012048:ENST00000346315:exon10:c.C2082T:p.S694S,ENSG00000012048:ENST00000354071:exon10:c.C2082T:p.S694S,ENSG00000012048:ENST00000357654:exon10:c.C2082T:p.S694S,ENSG00000012048:ENST00000471181:exon10:c.C2082T:p.S694S NA NA 17q21.31 NA NA NA NA rs1799949 0.32 0.32 0.302 0.336462 0.3002 0.371 0.353 0.2103 0.4969 0.36 0.33 0.4 0.22 0.3483 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619748 NA NA 0.324419 0.239555 ID=COSM148280;OCCURENCE=1(stomach) 0.275 CLINSIG=non-pathogenic|untested|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|not|single|single;CLNACC=RCV000111763.2|RCV000114984.1|RCV000123900.1|RCV000128966.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|.|C0027672 5.6937476 1083 12 7967076 7967076 A G exonic SLC2A14 NA synonymous SNV SLC2A14:NM_153449:exon12:c.T1399C:p.L467L exonic ENSG00000173262 NA synonymous SNV ENSG00000173262:ENST00000542505:exon5:c.T322C:p.L108L,ENSG00000173262:ENST00000542546:exon8:c.T1072C:p.L358L,ENSG00000173262:ENST00000535295:exon10:c.T1072C:p.L358L,ENSG00000173262:ENST00000539924:exon10:c.T1444C:p.L482L,ENSG00000173262:ENST00000431042:exon11:c.T1330C:p.L444L,ENSG00000173262:ENST00000396589:exon12:c.T1399C:p.L467L,ENSG00000173262:ENST00000340749:exon13:c.T1330C:p.L444L,ENSG00000173262:ENST00000543909:exon16:c.T1399C:p.L467L Score=325;Name=lod=28 NA 12p13.31 NA NA NA NA rs10845983 0.21 0.21 0.163 0.209465 0.338 0.1181 0.3674 0.0204 0.3149 0.33 0.12 0.34 0.04 0.298 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493617 NA NA 0.336977 0.075579 NA 0.174 NA 5.6936896 1083 1 144931727 144931727 G A UTR5 PDE4DIP NM_001002811:c.-19C>T NA NA UTR5 ENSG00000178104 ENST00000313431:c.-19C>T,ENST00000529945:c.-19C>T NA NA NA NA 1q21.1 NA Name=BAF155,BAF170,ZNF263,GATA3_(SC-268),GATA-2,Pol2 Name=134 NA rs2985363 0.28 0.28 0.253 NA NA NA NA NA NA 0.34 0.07 0.27 0.45 0.309 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722353 NA NA 0.330886 0.412944 NA 0.188 NA 5.6934474 1083 11 6530278 6530278 C T exonic DNHD1 NA synonymous SNV DNHD1:NM_173589:exon4:c.C1089T:p.F363F,DNHD1:NM_144666:exon5:c.C1089T:p.F363F exonic ENSG00000179532 NA synonymous SNV ENSG00000179532:ENST00000527990:exon3:c.C1089T:p.F363F,ENSG00000179532:ENST00000354685:exon4:c.C1089T:p.F363F,ENSG00000179532:ENST00000254579:exon5:c.C1089T:p.F363F Score=422;Name=lod=69 NA 11p15.4 NA NA NA NA rs10839568 0.24 0.24 0.217 0.219249 0.3519 0.128 0.3199 0.1377 0.2157 0.34 0.15 0.33 0.13 0.2925 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.328876 1.328876 NA 0.329493 0.166515 NA 0.268 NA 5.6927736 1083 6 26056549 26056549 A G exonic HIST1H1C NA synonymous SNV HIST1H1C:NM_005319:exon1:c.T108C:p.S36S exonic ENSG00000187837 NA synonymous SNV ENSG00000187837:ENST00000343677:exon1:c.T108C:p.S36S NA NA 6p22.2 NA Name=TCF12,Nrf1,USF-1,GATA2_(CG2-96),BATF,CHD2_(N-1250),c-Myc,CCNT2,ELF1_(SC-631),AP-2gamma,NFKB,HEY1,BCL3,ZEB1_(SC-25388),POU5F1_(SC-9081),PAX5-N19,Oct-2,GCN5,Pol2,SP1,NRSF,YY1,Pol2(phosphoS2),MEF2C_(SC-13268),Egr-1,Sin3Ak-20,YY1_(C-20),BCLAF1_(M33-P5B11),TAF7_(SQ-8),Pol2-4H8,TR4,FOSL2,JunD,TAF1,Pol2(b),GATA-1,ETS1,p300_(F-4),SP2_(SC-643),POU2F2,HMGN3,USF2,GABP,ZBTB33 Name=148 NA rs10425 0.76 0.76 0.737 0.760783 0.6372 0.8552 0.6744 0.9281 0.6258 0.63 0.89 0.66 0.9 0.6806 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072133 NA NA 0.656977 0.884249 NA 0.739 NA 5.6918896 1083 19 51133356 51133356 C G exonic SYT3 NA synonymous SNV SYT3:NM_032298:exon3:c.G747C:p.R249R,SYT3:NM_001160328:exon5:c.G747C:p.R249R,SYT3:NM_001160329:exon5:c.G747C:p.R249R exonic ENSG00000213023 NA synonymous SNV ENSG00000213023:ENST00000338916:exon3:c.G747C:p.R249R,ENSG00000213023:ENST00000544769:exon5:c.G747C:p.R249R,ENSG00000213023:ENST00000593901:exon5:c.G747C:p.R249R,ENSG00000213023:ENST00000600079:exon5:c.G747C:p.R249R Score=395;Name=lod=54 NA 19q13.33 Score=925;Name=V$E47_01 NA NA NA rs10407511 0.58 0.58 0.596 0.595048 0.6879 0.1696 0.7176 0.8585 0.4949 0.67 0.17 0.7 0.83 0.6203 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8616 NA NA 0.666628 0.807081 NA 0.42 NA 5.6918386 1083 3 39449770 39449770 T G intronic RPSA NA NA NA intronic ENSG00000168028 NA NA NA NA NA 3p22.1 NA Name=Pol2 Name=49 NA rs3772140 0.26 0.26 0.243 0.250799 0.3082 0.2778 0.3084 0.152 0.2566 0.3 0.28 0.3 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240101 NA NA NA NA NA 0.225 NA 5.6918 1083 3 39452106 39452106 A G intronic RPSA NA NA NA intronic ENSG00000168028 NA NA NA NA NA 3p22.1 NA Name=Pol2 Name=14 NA rs2077798 0.26 0.26 0.235 0.250799 0.3082 0.2778 0.3084 0.152 0.2566 0.3 0.28 0.3 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055478 NA NA NA NA NA 0.225 NA 5.6918 1083 3 186965268 186965268 A G intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA Score=491;Name=lod=132 NA 3q27.3 NA NA Name=13 NA rs3774275 0.25 0.25 0.224 0.240615 0.3082 0.4177 0.1585 0.0212 0.3436 0.32 0.39 0.19 0.03 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.241244 4.241244 NA NA NA NA 0.159 NA 5.6918 1083 11 59259637 59259637 A C intergenic OR4D10,OR4D11 dist=13799;dist=11412 NA NA ncRNA_exonic ENSG00000204989 NA NA NA Score=361;Name=lod=39 NA 11q12.1 Score=889;Name=V$GR_Q6 NA NA NA rs10896979 0.34 0.34 0.342 0.366014 0.3082 0.2758 0.2406 0.5197 0.3998 0.3 0.26 0.27 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862089 NA NA NA NA NA 0.449 NA 5.6918 1083 21 45276007 45276007 G T intergenic LOC284837,AGPAT3 dist=43559;dist=9109 NA NA ncRNA_exonic ENSG00000226543 NA NA NA Score=652;Name=lod=597 NA 21q22.3 NA NA Name=2 NA rs11702314 0.35 0.35 0.313 0.322684 0.3082 0.5069 0.379 0.1679 0.317 0.31 0.5 0.41 0.17 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.923484 NA NA NA NA NA 0.428 NA 5.6918 1083 10 11789405 11789405 G A exonic ECHDC3 NA synonymous SNV ECHDC3:NM_024693:exon2:c.G228A:p.K76K exonic ENSG00000134463 NA synonymous SNV ENSG00000134463:ENST00000422887:exon1:c.G9A:p.K3K,ENSG00000134463:ENST00000379215:exon2:c.G228A:p.K76K,ENSG00000134463:ENST00000420401:exon2:c.G387A:p.K129K Score=437;Name=lod=80 NA 10p14 NA Name=GR Name=26 NA rs4750091 0.94 0.94 0.921 0.922324 0.998 1 0.9769 0.7201 0.999 1 1 0.98 0.74 0.9786 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725488 NA NA 0.998837 0.779392 NA 0.906 NA 5.6912296 1083 12 49582692 49582692 T G UTR5 TUBA1A NM_001270400:c.-2178A>C,NM_001270399:c.-490A>C NA NA UTR5 ENSG00000167552 ENST00000552924:c.-2178A>C NA NA NA NA 12q13.12 NA Name=YY1,Pol2(b),NFKB,HEY1,Pol2,YY1_(C-20),POU2F2,Rad21,Oct-2 Name=135 NA rs1039225 0.42 0.42 0.368 0.410743 0.332 0.6835 0.3242 0.2194 0.5307 0.33 0.73 0.36 0.24 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687433 NA NA 0.310182 0.223988 NA 0.355 NA 5.6911514 1083 3 133474328 133474328 G A exonic TF NA synonymous SNV TF:NM_001063:exon5:c.G624A:p.S208S exonic ENSG00000091513 NA synonymous SNV ENSG00000091513:ENST00000264998:exon4:c.G243A:p.S81S,ENSG00000091513:ENST00000482271:exon4:c.G243A:p.S81S,ENSG00000091513:ENST00000402696:exon5:c.G624A:p.S208S NA NA 3q22.1 NA NA Name=3 NA rs12769 0.31 0.31 0.258 0.311302 0.3211 0.4454 0.3775 0.087 0.4192 0.32 0.47 0.33 0.08 0.3305 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.322868 NA NA 0.32407 0.134362 NA 0.196 NA 5.6909966 1083 10 105819956 105819956 G A exonic COL17A1 NA synonymous SNV COL17A1:NM_000494:exon14:c.C1062T:p.A354A exonic ENSG00000065618 NA synonymous SNV ENSG00000065618:ENST00000353479:exon14:c.C1062T:p.A354A,ENSG00000065618:ENST00000369733:exon14:c.C1062T:p.A354A,ENSG00000065618:ENST00000393211:exon14:c.C1062T:p.A354A Score=557;Name=lod=244 NA 10q25.1 NA Name=NRSF NA NA rs805701 0.59 0.59 0.547 0.552516 0.6551 0.6875 0.6902 0.2519 0.6166 0.66 0.71 0.69 0.25 0.6473 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114846 NA NA 0.673953 0.323423 NA 0.601 NA 5.6903136 1083 11 9749645 9749645 A C exonic SWAP70 NA synonymous SNV SWAP70:NM_015055:exon5:c.A688C:p.R230R exonic ENSG00000133789 NA synonymous SNV ENSG00000133789:ENST00000534662:exon3:c.A241C:p.R81R,ENSG00000133789:ENST00000447399:exon4:c.A514C:p.R172R,ENSG00000133789:ENST00000318950:exon5:c.A688C:p.R230R Score=672;Name=lod=719 NA 11p15.4 NA NA NA NA rs397686 0.27 0.27 0.274 0.258586 0.3211 0.1726 0.183 0.3306 0.2393 0.33 0.19 0.22 0.31 0.3061 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.640727 1.640727 NA 0.349558 0.335984 NA 0.384 NA 5.6899086 1083 12 6954875 6954875 C T exonic GNB3 NA synonymous SNV GNB3:NM_002075:exon10:c.C825T:p.S275S exonic ENSG00000111664 NA synonymous SNV ENSG00000111664:ENST00000537035:exon8:c.C702T:p.S234S,ENSG00000111664:ENST00000435982:exon9:c.C822T:p.S274S,ENSG00000111664:ENST00000229264:exon10:c.C825T:p.S275S NA NA 12p13.31 Score=703;Name=V$HOX13_01 NA NA NA rs5443 0.48 0.48 0.488 0.492212 0.3072 0.503 0.379 0.8192 0.3098 0.31 0.47 0.42 0.79 0.3598 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507925 NA NA 0.310116 0.722424 ID=COSM147403;OCCURENCE=1(stomach) 0.442 NA 5.6895506 1083 19 9057687 9057687 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T29759C:p.I9920T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T29759C:p.I9920T NA NA 19p13.2 NA NA NA NA rs1895364 0.86 0.86 0.866 0.858626 0.8738 0.8542 0.8991 0.8321 0.8548 0.88 0.88 0.89 0.8 0.8719 0.9 0 D 0.0 B 0.0 B . . . . . . 4.61 T -1.091 T 0.000 T 0.013 -0.126 3.385 0.023 -0.197 -0.531 2.292 -0.125612 NA 0.4 0.898197 0.85625 NA 0.899 NA 5.6894364 1083 22 22533623 22533623 C G intergenic TOP3B,VPREB1 dist=196476;dist=65577 NA NA ncRNA_exonic ENSG00000254308 NA NA NA Score=358;Name=lod=38 NA 22q11.22 NA Name=PU.1,MafF_(M8194),MafK_(SC-477),ELF1_(SC-631),MafK_(ab50322) NA NA rs5750675 0.45 0.45 0.413 0.452875 0.3111 0.6756 0.4769 0.3215 0.5297 0.31 0.7 0.45 0.37 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.397478 1.397478 NA NA NA NA 0.319 NA 5.6889 1083 3 186953808 186953808 C T exonic MASP1 NA synonymous SNV MASP1:NM_139125:exon11:c.G1851A:p.L617L exonic ENSG00000127241 NA synonymous SNV ENSG00000127241:ENST00000392472:exon10:c.G1512A:p.L504L,ENSG00000127241:ENST00000296280:exon11:c.G1851A:p.L617L NA NA 3q27.3 Score=842;Name=V$TAL1BETAITF2_01 NA NA NA rs850312 0.24 0.24 0.202 0.211861 0.3479 0.2034 0.3473 0.0265 0.2352 0.34 0.2 0.35 0.04 0.2908 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038449 NA NA 0.339302 0.067862 ID=COSM149542;OCCURENCE=1(stomach) 0.196 NA 5.6886646 1083 19 37642917 37642917 G A exonic ZNF585A NA synonymous SNV ZNF585A:NM_152655:exon6:c.C1719T:p.H573H,ZNF585A:NM_199126:exon6:c.C1719T:p.H573H exonic ENSG00000196967 NA synonymous SNV ENSG00000196967:ENST00000356958:exon5:c.C1884T:p.H628H,ENSG00000196967:ENST00000292841:exon6:c.C1719T:p.H573H,ENSG00000196967:ENST00000392157:exon6:c.C1719T:p.H573H Score=391;Name=lod=52 NA 19q13.12 NA NA NA NA rs4806415 0.5 0.5 0.47 0.502995 0.497 0.1944 0.5778 0.8086 0.3609 0.51 0.19 0.59 0.8 0.4825 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223327 NA NA NA NA NA 0.246 NA 5.6871666 1083 11 3993231 3993231 A G intronic STIM1 NA NA NA intronic ENSG00000167323 NA NA NA Score=641;Name=lod=539 NA 11p15.4 NA NA Name=67 NA rs10835407 0.24 0.24 0.214 0.258786 0.3131 0.3204 0.2767 0.0272 0.4397 0.32 0.3 0.24 0.02 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.052939 NA NA NA NA NA 0.232 NA 5.6869 1083 19 39996027 39996027 C T exonic DLL3 NA synonymous SNV DLL3:NM_016941:exon6:c.C1029T:p.P343P,DLL3:NM_203486:exon6:c.C1029T:p.P343P exonic ENSG00000090932 NA synonymous SNV ENSG00000090932:ENST00000205143:exon6:c.C1029T:p.P343P,ENSG00000090932:ENST00000356433:exon6:c.C1029T:p.P343P Score=562;Name=lod=256 NA 19q13.2 NA NA NA NA rs2304214 0.23 0.23 0.225 0.242013 0.3429 0.1468 0.2608 0.1377 0.364 0.34 0.11 0.28 0.15 0.3041 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392028 1.392028 NA 0.332907 0.182705 NA 0.188 NA 5.6867596 1083 6 31084163 31084163 A G exonic CDSN NA nonsynonymous SNV CDSN:NM_001264:exon2:c.T1229C:p.L410S exonic ENSG00000204539 NA nonsynonymous SNV ENSG00000204539:ENST00000376288:exon2:c.T1229C:p.L410S NA NA 6p21.33 NA NA NA NA rs3132554 0.62 0.62 0.605 0.646965 0.5487 0.7113 0.6138 0.7065 0.6247 0.53 0.68 0.62 0.68 0.5897 0.68 0.98 T . . . . 0.825 N 1.000 P . . 3.49 T -0.940 T 0.002 T 0.033 -2.11 0.006 1.42 0.779 0.518 3.661 -2.110122 NA 1 0.508256 0.662279 NA 0.529 NA 5.6866774 1083 1 184801065 184801065 T C exonic FAM129A NA synonymous SNV FAM129A:NM_052966:exon6:c.A633G:p.Q211Q exonic ENSG00000135842 NA synonymous SNV ENSG00000135842:ENST00000367511:exon6:c.A633G:p.Q211Q Score=592;Name=lod=338 NA 1q25.3 NA NA NA NA rs487675 0.29 0.29 0.302 0.283746 0.3429 0.1558 0.2363 0.3812 0.2566 0.33 0.18 0.27 0.37 0.2969 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145802 NA NA 0.340349 0.366773 ID=COSM1337073;OCCURENCE=1(large_intestine) 0.268 NA 5.6865176 1083 14 94524216 94524216 T C exonic DDX24 NA synonymous SNV DDX24:NM_020414:exon6:c.A1941G:p.A647A exonic ENSG00000089737 NA synonymous SNV ENSG00000089737:ENST00000544005:exon5:c.A1191G:p.A397A,ENSG00000089737:ENST00000330836:exon6:c.A1941G:p.A647A,ENSG00000089737:ENST00000555054:exon6:c.A1812G:p.A604A NA NA 14q32.12 Score=707;Name=V$BRACH_01 NA NA NA rs1056810 0.33 0.33 0.285 0.294329 0.3211 0.3264 0.4467 0.1884 0.2689 0.33 0.38 0.4 0.22 0.3271 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.309708 1.309708 NA 0.331977 0.231502 ID=COSM1162346;OCCURENCE=1(pancreas) 0.319 NA 5.6864896 1083 14 88935925 88935925 A G exonic PTPN21 NA synonymous SNV PTPN21:NM_007039:exon17:c.T3153C:p.T1051T exonic ENSG00000070778 NA synonymous SNV ENSG00000070778:ENST00000553531:exon1:c.T36C:p.T12T,ENSG00000070778:ENST00000328736:exon16:c.T3153C:p.T1051T,ENSG00000070778:ENST00000556564:exon17:c.T3153C:p.T1051T Score=569;Name=lod=275 NA 14q31.3 NA NA NA NA rs2297129 0.37 0.37 0.364 0.395168 0.2962 0.38 0.2781 0.5219 0.4243 0.31 0.36 0.28 0.52 0.3431 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573774 NA NA 0.34093 0.506355 NA 0.471 NA 5.6864366 1083 2 86979093 86979093 G A exonic RMND5A NA synonymous SNV RMND5A:NM_022780:exon3:c.G360A:p.E120E exonic ENSG00000153561 NA synonymous SNV ENSG00000153561:ENST00000283632:exon3:c.G360A:p.E120E Score=578;Name=lod=297 NA 2p11.2 Score=725;Name=V$PPARG_02 NA NA NA rs10186663 0.72 0.72 0.683 0.689696 0.664 0.9058 0.696 0.615 0.59 0.66 0.91 0.68 0.62 0.666 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237441 1.237441 NA 0.650233 0.657739 NA 0.529 NA 5.6864336 1083 1 205238275 205238275 A G exonic TMCC2 NA synonymous SNV TMCC2:NM_001242925:exon3:c.A711G:p.A237A,TMCC2:NM_014858:exon3:c.A945G:p.A315A exonic ENSG00000133069 NA synonymous SNV ENSG00000133069:ENST00000329800:exon2:c.A225G:p.A75A,ENSG00000133069:ENST00000330675:exon2:c.A270G:p.A90A,ENSG00000133069:ENST00000358024:exon3:c.A945G:p.A315A,ENSG00000133069:ENST00000367159:exon3:c.A357G:p.A119A,ENSG00000133069:ENST00000545499:exon3:c.A711G:p.A237A NA NA 1q32.1 Score=811;Name=V$HTF_01 NA NA NA rs1768586 0.2 0.2 0.184 0.14976 0.3549 0.0516 0.1902 0.1036 0.0736 0.36 0.05 0.23 0.1 0.2718 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.280368 NA NA 0.354767 0.148661 NA 0.355 NA 5.6851996 1083 19 9059808 9059808 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T27638C:p.I9213T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T27638C:p.I9213T NA NA 19p13.2 NA NA NA NA rs7508222 0.86 0.86 0.859 0.857029 0.8767 0.8522 0.9006 0.826 0.8528 0.88 0.88 0.89 0.79 0.8726 0.9 0 D 0.0 B 0.0 B . . . . . . 2.19 T -1.067 T 0.000 T 0.016 -0.344 2.372 -0.027 0.073 -0.735 4.803 -0.344116 NA 0.75 0.898918 0.847011 NA 0.899 NA 5.6851154 1084 16 58575489 58575489 G A exonic CNOT1 NA synonymous SNV CNOT1:NM_001265612:exon34:c.C4701T:p.Y1567Y,CNOT1:NM_016284:exon34:c.C4716T:p.Y1572Y exonic ENSG00000125107 NA synonymous SNV ENSG00000125107:ENST00000245138:exon11:c.C1269T:p.Y423Y,ENSG00000125107:ENST00000317147:exon34:c.C4716T:p.Y1572Y,ENSG00000125107:ENST00000567188:exon34:c.C4701T:p.Y1567Y,ENSG00000125107:ENST00000569240:exon34:c.C4701T:p.Y1567Y Score=696;Name=lod=901 NA 16q21 NA NA NA NA rs11540994 0.46 0.46 0.485 0.485224 0.3211 0.5704 0.2983 0.6687 0.4509 0.32 0.59 0.3 0.66 0.3684 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872197 NA NA 0.292558 0.604641 NA 0.391 NA 5.6846086 1084 3 195426149 195426149 G A upstream MIR570 NA NA NA ncRNA_intronic ENSG00000242086 NA NA NA NA NA 3q29 NA Name=eGFP-JunD Name=31 NA rs4997080 0.4 0.4 0.14 0.466853 0.4821 0.4593 0.4236 0.5272 0.408 0.38 0.4 0.39 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323038 NA NA NA NA NA NA NA 5.6845666 1084 21 38444995 38444995 A G UTR5 PIGP NM_153681:c.-108T>C NA NA UTR5 ENSG00000185808 ENST00000464265:c.-108T>C,ENST00000430792:c.-547T>C NA NA NA NA 21q22.13 NA Name=TBP,c-Myc,CCNT2,HEY1,AP-2gamma,HA-E2F1,E2F1,Pol2-4H8,Egr-1,Ini1,YY1_(C-20),E2F6,Pol2,HMGN3,E2F6_(H-50),TAF1 Name=136 NA rs7280542 0.63 0.63 0.59 0.598442 0.6491 0.4643 0.7118 0.7141 0.4479 0.66 0.45 0.71 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208302 NA NA NA NA NA 0.609 NA 5.6842334 1084 2 15601441 15601441 C T exonic NBAS NA synonymous SNV NBAS:NM_015909:exon21:c.G2223A:p.L741L exonic ENSG00000151779 NA synonymous SNV ENSG00000151779:ENST00000281513:exon21:c.G2223A:p.L741L,ENSG00000151779:ENST00000441750:exon21:c.G2223A:p.L741L Score=523;Name=lod=178 NA 2p24.3 Score=832;Name=V$TST1_01 NA NA NA rs7590340 0.53 0.53 0.521 0.523562 0.6938 0.2222 0.6254 0.5567 0.5419 0.67 0.26 0.64 0.56 0.6049 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425715 NA NA 0.683953 0.581707 NA 0.667 NA 5.6840136 1084 5 55571586 55571586 A G intergenic ANKRD55,MAP3K1 dist=42400;dist=539314 NA NA ncRNA_exonic ENSG00000248781 NA NA NA Score=836;Name=lod=3324 NA 5q11.2 NA NA Name=6 NA rs6895344 0.29 0.29 0.291 0.299321 0.3161 0.2887 0.3141 0.2126 0.3998 0.32 0.32 0.3 0.22 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.152119 NA NA NA NA NA 0.297 NA 5.6839 1084 6 32189032 32189032 T C exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon4:c.A522G:p.T174T exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon4:c.A522G:p.T174T NA NA 6p21.32 Score=902;Name=V$CEBP_C NA NA NA rs415929 0.28 0.28 0.281 0.279952 0.3519 0.2421 0.2594 0.2088 0.3558 0.34 0.24 0.3 0.22 0.3113 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1701 NA NA 0.31986 0.218212 NA 0.355 NA 5.6836066 1084 7 144702790 144702790 A G intergenic TPK1,CNTNAP2 dist=169644;dist=1110663 NA NA ncRNA_exonic ENSG00000236343 NA NA NA Score=741;Name=lod=1364 NA 7q35 NA Name=MafF_(M8194) NA NA rs10267308 0.29 0.29 0.302 0.291933 0.3171 0.2312 0.1988 0.4266 0.2127 0.32 0.23 0.22 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.854278 NA NA NA NA NA 0.239 NA 5.6829 1084 8 11614329 11614329 C T intronic GATA4 NA NA NA intronic ENSG00000136574 NA NA NA NA NA 8p23.1 NA Name=TAL1_(SC-12984),GATA-2,GATA2_(CG2-96),USF-1,GATA-1 Name=7 NA rs3729854 0.27 0.27 0.232 0.266374 0.3171 0.2659 0.3775 0.1127 0.3436 0.3 0.29 0.41 0.12 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934453 NA NA NA NA NA 0.304 NA 5.6829 1084 10 114053546 114053546 C G exonic TECTB NA synonymous SNV TECTB:NM_058222:exon5:c.C534G:p.S178S exonic ENSG00000119913 NA synonymous SNV ENSG00000119913:ENST00000369422:exon5:c.C534G:p.S178S NA NA 10q25.2 Score=828;Name=V$BRN2_01 NA NA NA rs726009 0.56 0.56 0.545 NA NA NA NA NA NA 0.44 0.72 0.62 0.52 0.5241 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789049 NA NA 0.46 0.556287 NA 0.63 NA 5.6825666 1084 19 18311199 18311199 A G exonic RAB3A NA synonymous SNV RAB3A:NM_002866:exon3:c.T285C:p.A95A exonic ENSG00000105649 NA synonymous SNV ENSG00000105649:ENST00000222256:exon3:c.T285C:p.A95A,ENSG00000105649:ENST00000481914:exon3:c.T285C:p.A95A Score=579;Name=lod=301 NA 19p13.11 NA NA NA NA rs1046565 0.21 0.21 0.183 0.161542 0.3658 0.0923 0.2363 0.0287 0.1493 0.39 0.09 0.25 0.04 0.2791 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128203 NA NA 0.339884 0.07626 ID=COSM148533;OCCURENCE=1(stomach),1(large_intestine) 0.138 NA 5.6818826 1084 17 7217944 7217944 G A intronic GPS2 NA NA NA intronic ENSG00000132522,ENSG00000261915 NA NA NA NA NA 17p13.1 NA Name=AP-2gamma,Pol2-4H8,Pol2(b),AP-2alpha Name=108 NA rs62059197 0.06 0.06 0.052 0.0373403 0.1243 NA 0.0648 0.0045 0.0112 0.12 NA 0.08 0.01 0.0817 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258835 NA NA 0.112442 0.019973 NA 0.022 NA 5.681558 1084 22 31333631 31333631 T C exonic MORC2 NA synonymous SNV MORC2:NM_014941:exon16:c.A1251G:p.P417P exonic ENSG00000133422 NA synonymous SNV ENSG00000133422:ENST00000397641:exon15:c.A1437G:p.P479P,ENSG00000133422:ENST00000215862:exon16:c.A1251G:p.P417P Score=652;Name=lod=593 NA 22q12.2 NA NA NA NA rs3747151 0.46 0.46 0.448 0.467851 0.3101 0.6895 0.3458 0.5915 0.3211 0.3 0.62 0.38 0.58 0.3558 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.433952 1.433952 NA 0.319302 0.544031 NA 0.428 NA 5.6814646 1084 1 186277989 186277989 A G exonic PRG4 NA synonymous SNV PRG4:NM_001127710:exon4:c.A2736G:p.P912P,PRG4:NM_001127709:exon5:c.A2859G:p.P953P,PRG4:NM_001127708:exon6:c.A3015G:p.P1005P,PRG4:NM_005807:exon7:c.A3138G:p.P1046P exonic ENSG00000116690 NA synonymous SNV ENSG00000116690:ENST00000367485:exon5:c.A2859G:p.P953P,ENSG00000116690:ENST00000367483:exon6:c.A3015G:p.P1005P,ENSG00000116690:ENST00000367486:exon6:c.A3009G:p.P1003P,ENSG00000116690:ENST00000367484:exon7:c.A1725G:p.P575P,ENSG00000116690:ENST00000445192:exon7:c.A3138G:p.P1046P NA NA 1q31.1 NA NA Name=2 NA rs3737940 0.24 0.24 0.216 0.221246 0.33 0.125 0.402 0.1142 0.2249 0.35 0.13 0.39 0.1 0.3016 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324894 NA NA 0.353953 0.149342 NA 0.217 NA 5.6811136 1084 1 172011059 172011059 G A intronic DNM3 NA NA NA intronic ENSG00000197959 NA NA NA NA NA 1q24.3 NA Name=CTCF,Rad21,SMC3_(ab9263) Name=80 NA rs3736791 0.45 0.45 0.438 0.442093 0.3191 0.622 0.415 0.4637 0.3732 0.33 0.65 0.38 0.45 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247221 NA NA NA NA NA 0.514 NA 5.6809 1084 17 8076741 8076741 A G UTR3 TMEM107 NM_183065:c.*780T>C,NM_032354:c.*780T>C NA NA UTR3 ENSG00000179029 ENST00000449985:c.*829T>C NA NA NA NA 17p13.1 NA Name=Pol2-4H8,E2F1,GATA-2,HDAC2_(SC-6296),KAP1,ZNF263,c-Jun,Sin3Ak-20,Egr-1,YY1,STAT3,RFX5_(N-494),GCN5,FOXA1_(C-20),AP-2alpha,SIRT6,Pol2(b),JunD,FOSL2,eGFP-JunB,GATA2_(CG2-96),TBP,USF-1,TCF12,THAP1_(SC-98174),p300_(N-15),MafK_(ab50322),SIX5,SETDB1,SRF,PAX5-C20,PAX5-N19,HEY1,eGFP-GATA2,BCL3,NFKB,CCNT2,c-Myc,IRF4_(M-17),eGFP-JunD,USF1_(SC-8983),TR4,GATA3_(SC-268),MEF2A,TAF7_(SQ-8),BCL11A,BCLAF1_(M33-P5B11),YY1_(C-20),BRCA1_(C-1863),SMC3_(ab9263),Pol2(phosphoS2),Mxi1_(bHLH),PU.1,NRSF,SP1,Pol2,ZBTB33,MafF_(M8194),HMGN3,POU2F2,p300_(F-4),MafK_(SC-477),CTCFL_(SC-98982),ETS1,GATA-1,TAF1,CHD2_(N-1250),BATF,CEBPB,RXRA,p300,CTCF,Oct-2,HNF4G_(SC-6558),FOXA1_(SC-101058),ELF1_(SC-631),FOSL1_(SC-183),Max,GR Name=147 NA rs72479723 0.12 0.12 0.124 0.0994409 0.2247 0.0298 0.1225 0.0469 0.0971 0.23 0.03 0.15 0.05 0.1736 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580118 NA NA 0.254144 0.089612 NA 0.08 NA 5.6808894 1084 15 28437061 28437061 A G intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA Name=Rad21,CTCF Name=93 NA rs72714143 0.17 0.17 0.162 0.171925 0.1083 0.2927 0.232 0.0862 0.1861 0.1 0.32 0.23 0.08 0.1281 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140276 NA NA 0.08281 0.091239 NA 0.123 NA 5.68079 1084 19 9062544 9062544 T G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A24902C:p.N8301T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A24902C:p.N8301T NA NA 19p13.2 NA NA NA NA rs2547063 0.88 0.88 0.885 0.873602 0.8767 0.8522 0.902 0.8865 0.8548 0.88 0.88 0.89 0.86 0.8769 0.9 0 D 0.0 B 0.0 B . . . . . . 2.34 T -1.083 T 0.000 T 0.024 0.133 4.717 0.406 -0.066 -0.711 3.061 0.133283 NA 0.7 0.899085 0.890593 NA 0.913 NA 5.6806484 1084 4 69417570 69417570 A G exonic UGT2B17 NA synonymous SNV UGT2B17:NM_001077:exon4:c.T1065C:p.Y355Y exonic ENSG00000197888 NA synonymous SNV ENSG00000197888:ENST00000317746:exon4:c.T1065C:p.Y355Y Score=461;Name=lod=100 NA 4q13.2 NA NA Name=4 NA rs28374627 0.44 0.44 0.563 0.597444 0.7296 0.7897 0.5274 0.3563 0.6391 0.62 0.32 0.49 0.28 0.6002 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.297752 NA NA 0.65637 0.391044 NA 0.312 NA 5.6804966 1084 16 3115628 3115628 A C UTR5 IL32 NM_001012631:c.-185A>C,NM_001012635:c.-185A>C NA NA UTR5 ENSG00000008517 ENST00000526464:c.-185A>C,ENST00000525643:c.-185A>C,ENST00000528163:c.-185A>C,ENST00000444393:c.-185A>C,ENST00000530890:c.-185A>C,ENST00000533097:c.-185A>C NA NA NA NA 16p13.3 NA Name=ZNF263,Pol2-4H8,TBP,HEY1,Pol2 Name=19 NA rs1554999 0.8 0.8 0.791 0.805711 0.6531 0.9395 0.7925 0.8623 0.7577 0.66 0.96 0.75 0.88 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063232 NA NA NA NA NA 0.717 NA 5.6802334 1084 16 58552228 58552228 G A intronic SETD6 NA NA NA intronic ENSG00000103037 NA NA NA NA NA 16q21 NA Name=PU.1 Name=8 NA rs2280397 0.46 0.46 0.482 0.485024 0.3201 0.5694 0.2939 0.6694 0.454 0.32 0.59 0.29 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571765 NA NA NA NA NA 0.399 NA 5.6799 1084 19 19976701 19976701 A T upstream ZNF253 NA NA NA UTR5 ENSG00000256771 ENST00000592725:c.-14221A>T NA NA NA NA 19p13.11 NA Name=Pol2,SP1,NRSF,TAF7_(SQ-8),E2F6,USF1_(SC-8983),TAF1,E2F6_(H-50),NF-YA,POU2F2,USF2,GTF2F1_(RAP-74),CHD2_(N-1250),Max,ELF1_(SC-631),NF-YB,Oct-2,RFX5_(N-494),Sin3Ak-20,ZNF263,c-Fos,Pol2-4H8,Pol2(b),JunD,GTF2B,USF-1,TBP,IRF1,c-Myc,HEY1,NFKB Name=137 NA rs2304169 0.5 0.5 0.482 0.509984 0.3201 0.7312 0.5 0.5159 0.4765 0.34 0.76 0.42 0.5 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203067 NA NA NA NA NA 0.42 NA 5.6799 1084 19 15793235 15793235 T C exonic CYP4F12 NA nonsynonymous SNV CYP4F12:NM_023944:exon6:c.T562C:p.C188R exonic ENSG00000186204 NA nonsynonymous SNV ENSG00000186204:ENST00000324632:exon5:c.T562C:p.C188R,ENSG00000186204:ENST00000550308:exon6:c.T562C:p.C188R NA NA 19p13.12 NA NA NA NA rs2285888 0.57 0.57 0.516 0.620008 0.5288 0.745 0.6599 0.6006 0.5828 0.49 0.7 0.6 0.53 0.5907 0.7 1 T 0.0 B 0.0 B 0.882 N 1.000 P -1.375 N -1.18 T -0.958 T 0.000 T 0.105 -2.379 0.004 0.14 -0.146 0.306 2.592 -2.378912 NA 1 0.53407 0.600545 NA 0.536 NA 5.6797634 1084 2 68388823 68388823 A G exonic PNO1 NA synonymous SNV PNO1:NM_020143:exon3:c.A366G:p.K122K exonic ENSG00000115946 NA synonymous SNV ENSG00000115946:ENST00000263657:exon3:c.A366G:p.K122K Score=607;Name=lod=389 NA 2p14 NA NA NA NA rs1137930 0.33 0.33 0.287 0.339856 0.327 0.4881 0.353 0.0809 0.5409 0.34 0.49 0.37 0.09 0.3567 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199782 NA NA 0.304419 0.127553 NA 0.225 NA 5.6785476 1084 1 10473196 10473196 C T exonic PGD NA synonymous SNV PGD:NM_002631:exon8:c.C732T:p.D244D exonic ENSG00000142657 NA synonymous SNV ENSG00000142657:ENST00000483936:exon4:c.C297T:p.D99D,ENSG00000142657:ENST00000541529:exon7:c.C666T:p.D222D,ENSG00000142657:ENST00000270776:exon8:c.C732T:p.D244D,ENSG00000142657:ENST00000538557:exon8:c.C693T:p.D231D NA NA 1p36.22 NA Name=Pol2 NA NA rs2229687 0.36 0.36 0.351 0.335064 0.338 0.3403 0.3732 0.3457 0.2853 0.34 0.36 0.4 0.36 0.3227 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.380162 NA NA 0.327558 0.329778 ID=COSM146395;OCCURENCE=1(stomach) 0.304 NA 5.6784086 1084 16 58750604 58750604 G A exonic GOT2 NA synonymous SNV GOT2:NM_002080:exon7:c.C816T:p.C272C exonic ENSG00000125166 NA synonymous SNV ENSG00000125166:ENST00000434819:exon6:c.C687T:p.C229C,ENSG00000125166:ENST00000245206:exon7:c.C816T:p.C272C Score=697;Name=lod=906 NA 16q21 Score=798;Name=V$COMP1_01 NA NA NA rs1058192 0.71 0.71 0.684 0.720248 0.67 0.6478 0.7738 0.8896 0.5798 0.64 0.64 0.76 0.88 0.6703 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.107324 NA NA 0.64814 0.842129 ID=COSM1128916;OCCURENCE=1(prostate) 0.812 NA 5.6782266 1084 10 11505175 11505175 A G exonic USP6NL NA synonymous SNV USP6NL:NM_001080491:exon14:c.T1803C:p.P601P,USP6NL:NM_014688:exon15:c.T1752C:p.P584P exonic ENSG00000148429 NA synonymous SNV ENSG00000148429:ENST00000277575:exon14:c.T1803C:p.P601P,ENSG00000148429:ENST00000379237:exon15:c.T1752C:p.P584P NA NA 10p14 NA Name=NRSF NA NA rs3740204 0.48 0.48 0.517 0.499401 0.3042 0.7351 0.2997 0.5772 0.4939 0.3 0.74 0.31 0.59 0.3697 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26331 NA NA 0.314592 0.514081 NA 0.413 NA 5.6781746 1084 18 25543387 25543387 G A exonic CDH2 NA synonymous SNV CDH2:NM_001792:exon15:c.C2448T:p.A816A exonic ENSG00000170558 NA synonymous SNV ENSG00000170558:ENST00000399380:exon14:c.C2355T:p.A785A,ENSG00000170558:ENST00000269141:exon15:c.C2448T:p.A816A NA NA 18q12.1 NA Name=Rad21 NA NA rs1041985 0.34 0.34 0.314 0.327476 0.3419 0.4216 0.464 0.1498 0.3589 0.34 0.4 0.46 0.16 0.3339 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.334117 1.334117 NA 0.312791 0.178166 ID=COSM148413;OCCURENCE=1(stomach) 0.428 NA 5.6780756 1084 12 6965194 6965194 A G exonic USP5 NA synonymous SNV USP5:NM_001098536:exon4:c.A318G:p.G106G,USP5:NM_003481:exon4:c.A318G:p.G106G exonic ENSG00000111667 NA synonymous SNV ENSG00000111667:ENST00000229268:exon4:c.A318G:p.G106G,ENSG00000111667:ENST00000389231:exon4:c.A318G:p.G106G,ENSG00000111667:ENST00000542087:exon4:c.A318G:p.G106G NA NA 12p13.31 Score=804;Name=V$ER_Q6 NA NA NA rs2226955 0.5 0.5 0.511 0.503395 0.3181 0.505 0.3847 0.8517 0.3057 0.32 0.47 0.43 0.85 0.3648 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54174 NA NA 0.306512 0.748298 NA 0.471 NA 5.6772546 1084 9 15055607 15055607 G A intergenic LOC389705,TTC39B dist=35885;dist=115235 NA NA ncRNA_exonic ENSG00000234297 NA NA NA Score=420;Name=lod=68 NA 9p22.3 NA Name=CTCF NA NA rs4445325 0.38 0.38 0.386 0.385583 0.3231 0.2262 0.3977 0.6271 0.2791 0.32 0.22 0.41 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.763789 2.763789 NA NA NA NA 0.464 NA 5.6769 1084 22 22842957 22842957 T G exonic ZNF280B NA nonsynonymous SNV ZNF280B:NM_080764:exon4:c.A767C:p.E256A exonic ENSG00000198477 NA nonsynonymous SNV ENSG00000198477:ENST00000360412:exon4:c.A767C:p.E256A,ENSG00000198477:ENST00000406426:exon4:c.A767C:p.E256A NA NA 22q11.22 NA NA NA NA rs2236729 0.86 0.86 0.864 0.822484 0.9085 0.7698 0.9006 0.8563 0.6871 0.91 0.78 0.89 0.86 0.851 0.91 0.33 T 0.329 B 0.077 B . . 1.000 P 0.29 N 4.07 T -1.086 T 0.000 T 0.152 -0.953 0.337 2.17 0.302 0.479 3.721 -0.952877 NA 0.61 0.897209 0.853155 NA 0.804 NA 5.6766244 1084 17 43111688 43111688 G A exonic DCAKD NA synonymous SNV DCAKD:NM_001128631:exon3:c.C183T:p.N61N,DCAKD:NM_024819:exon3:c.C183T:p.N61N exonic ENSG00000172992 NA synonymous SNV ENSG00000172992:ENST00000452796:exon2:c.C183T:p.N61N,ENSG00000172992:ENST00000310604:exon3:c.C183T:p.N61N,ENSG00000172992:ENST00000342350:exon3:c.C183T:p.N61N,ENSG00000172992:ENST00000588499:exon3:c.C183T:p.N61N,ENSG00000172992:ENST00000593094:exon3:c.C183T:p.N61N Score=445;Name=lod=86 NA 17q21.31 NA NA NA NA rs9900173 0.27 0.27 0.28 0.255791 0.3499 0.2738 0.2161 0.1634 0.2935 0.35 0.29 0.24 0.15 0.2947 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.242167 1.242167 NA 0.346047 0.19882 NA 0.174 NA 5.6760196 1084 11 77301689 77301689 C T intronic AQP11 NA NA NA intronic ENSG00000074201,ENSG00000178301 NA NA NA NA NA 11q14.1 NA Name=Rad21,CTCF,Pol2 Name=60 NA rs2276416 0.14 0.14 0.133 0.145367 0.0964 0.1825 0.1902 0.1354 0.1391 0.09 0.2 0.16 0.15 0.1352 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432487 1.432487 NA 0.092498 0.132955 ID=COSN164005;OCCURENCE=1(NS) 0.174 NA 5.675902 1084 2 231338211 231338211 T G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA Name=PU.1,Pol2-4H8 Name=28 NA rs1678169 0.18 0.18 0.172 0.181909 0.3241 0.0675 0.1729 0.0696 0.3119 0.31 0.06 0.19 0.1 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212936 NA NA NA NA NA 0.138 NA 5.6759 1084 8 128098561 128098561 T A intergenic PCAT1,POU5F1B dist=65302;dist=329296 NA NA ncRNA_exonic ENSG00000224722 NA NA NA Score=500;Name=lod=144 NA 8q24.21 NA NA Name=6 NA rs56311652 0.18 0.18 0.153 0.130591 0.3241 0.0526 0.1916 0.0325 0.1012 0.34 0.07 0.21 0.04 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.720034 2.720034 NA NA NA NA 0.29 NA 5.6759 1085 10 5495218 5495218 T C exonic NET1 NA synonymous SNV NET1:NM_005863:exon5:c.T438C:p.Y146Y,NET1:NM_001047160:exon7:c.T600C:p.Y200Y exonic ENSG00000173848 NA synonymous SNV ENSG00000173848:ENST00000380359:exon5:c.T438C:p.Y146Y,ENSG00000173848:ENST00000355029:exon7:c.T600C:p.Y200Y,ENSG00000173848:ENST00000542715:exon7:c.T57C:p.Y19Y Score=646;Name=lod=565 NA 10p15.1 Score=944;Name=V$TCF11_01 NA Name=3 NA rs4567355 0.99 0.99 0.983 0.976637 0.999 1 0.9986 0.913 1 1 1 1 0.94 0.9929 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824327 NA NA 0.999767 0.918293 NA 0.978 NA 5.6749996 1085 3 186435370 186435370 G A exonic KNG1 NA synonymous SNV KNG1:NM_000893:exon1:c.G39A:p.L13L,KNG1:NM_001102416:exon1:c.G39A:p.L13L,KNG1:NM_001166451:exon1:c.G39A:p.L13L exonic ENSG00000113889 NA synonymous SNV ENSG00000113889:ENST00000265023:exon1:c.G39A:p.L13L,ENSG00000113889:ENST00000287611:exon1:c.G39A:p.L13L,ENSG00000113889:ENST00000447445:exon1:c.G39A:p.L13L Score=369;Name=lod=42 NA 3q27.3 NA NA NA NA rs1050274 0.35 0.35 0.363 0.389976 0.3241 0.3393 0.3098 0.4728 0.455 0.33 0.3 0.33 0.46 0.3478 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.247043 1.247043 NA 0.320349 0.464594 ID=COSM1178489,COSM1178490;OCCURENCE=1(prostate) 0.341 NA 5.6744176 1085 9 133553993 133553993 C T exonic PRDM12 NA synonymous SNV PRDM12:NM_021619:exon4:c.C648T:p.P216P exonic ENSG00000130711 NA synonymous SNV ENSG00000130711:ENST00000253008:exon4:c.C648T:p.P216P NA NA 9q34.12 Score=914;Name=V$E47_02 NA NA NA rs7021384 0.38 0.38 0.384 0.377995 0.3211 0.4722 0.451 0.3336 0.3476 0.32 0.47 0.41 0.36 0.3546 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05226 NA NA 0.317791 0.349977 NA 0.377 NA 5.6731756 1085 17 25409812 25409812 G A intergenic NONE,MIR4522 dist=NONE;dist=211124 NA NA ncRNA_exonic ENSG00000265646 NA NA NA Score=808;Name=lod=2553 NA 17q11.1 NA Name=TAF1,ZBTB33,Pol2(b) NA NA rs2061899 0.44 0.44 0.448 0.470248 0.328 0.506 0.451 0.6369 0.3681 0.31 0.49 0.41 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21682 NA NA NA NA NA 0.449 NA 5.672 1085 17 25410315 25410315 A G intergenic NONE,MIR4522 dist=NONE;dist=210621 NA NA ncRNA_exonic ENSG00000265646 NA NA NA Score=808;Name=lod=2553 NA 17q11.1 NA Name=Pol2-4H8,HEY1,TAF1 NA NA rs12449779 0.44 0.44 0.401 0.46905 0.328 0.506 0.451 0.6369 0.362 0.31 0.49 0.41 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605027 NA NA NA NA NA 0.442 NA 5.672 1085 17 25410639 25410639 T C intergenic NONE,MIR4522 dist=NONE;dist=210297 NA NA ncRNA_exonic ENSG00000265646 NA NA NA Score=808;Name=lod=2553 NA 17q11.1 NA Name=ZBTB33,ETS1,BCLAF1_(M33-P5B11),NF-YB,Sin3Ak-20,Pol2-4H8,Egr-1,HEY1,BCL3,GATA2_(CG2-96) NA NA rs11652017 0.44 0.44 0.42 0.470248 0.328 0.506 0.451 0.6369 0.3681 0.31 0.49 0.41 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395019 NA NA NA NA NA 0.449 NA 5.672 1085 17 25410734 25410734 A G intergenic NONE,MIR4522 dist=NONE;dist=210202 NA NA ncRNA_exonic ENSG00000265646 NA NA NA Score=808;Name=lod=2553 NA 17q11.1 NA Name=GATA2_(CG2-96),Sin3Ak-20,NF-YB,ZBTB33 NA NA rs11650889 0.44 0.44 0.416 0.470647 0.328 0.506 0.451 0.6384 0.3681 0.31 0.49 0.41 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324752 NA NA NA NA NA 0.449 NA 5.672 1085 19 21751988 21751988 C T intergenic ZNF429,ZNF100 dist=30909;dist=154855 NA NA ncRNA_exonic ENSG00000268081 NA NA NA NA NA 19p12 NA Name=NF-YB,Pol2 Name=98 NA rs4809135 NA NA 0.234 0.31889 0.328 0.3929 0.3905 0.2292 0.3037 NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.953035 NA NA NA NA NA 0.246 NA 5.672 1085 10 99155984 99155984 G A exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon3:c.C444T:p.F148F,RRP12:NM_015179:exon3:c.C444T:p.F148F exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000315563:exon3:c.C444T:p.F148F,ENSG00000052749:ENST00000370992:exon3:c.C444T:p.F148F,ENSG00000052749:ENST00000414986:exon3:c.C444T:p.F148F Score=459;Name=lod=98 NA 10q24.1 NA NA NA NA rs3814553 0.37 0.37 0.38 0.404153 0.337 0.3125 0.3429 0.5507 0.4131 0.33 0.28 0.33 0.58 0.3393 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.150151 NA NA 0.318837 0.493418 NA 0.304 NA 5.6715296 1085 17 48267585 48267585 A C intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 Score=921;Name=V$PAX4_03 NA Name=29 NA rs2075558 0.44 0.44 0.387 0.432308 0.329 0.7847 0.4798 0.1989 0.4571 0.34 0.76 0.43 0.23 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240781 NA NA NA NA NA 0.406 NA 5.671 1085 3 46480801 46480801 A G exonic LTF NA synonymous SNV LTF:NM_001199149:exon15:c.T1762C:p.L588L,LTF:NM_002343:exon15:c.T1894C:p.L632L exonic ENSG00000012223 NA synonymous SNV ENSG00000012223:ENST00000231751:exon15:c.T1894C:p.L632L,ENSG00000012223:ENST00000417439:exon15:c.T1888C:p.L630L,ENSG00000012223:ENST00000426532:exon15:c.T1762C:p.L588L,ENSG00000012223:ENST00000443496:exon18:c.T1855C:p.L619L Score=251;Name=lod=14 NA 3p21.31 NA NA NA NA rs9110 0.48 0.48 0.491 0.522564 0.3131 0.6349 0.3991 0.6452 0.544 0.33 0.64 0.35 0.63 0.3998 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299062 NA NA 0.282791 0.578529 NA 0.449 NA 5.6709756 1085 11 840319 840319 C T UTR3 POLR2L NM_021128:c.*53G>A NA NA UTR3 ENSG00000177700 ENST00000534030:c.*53G>A,ENST00000322028:c.*53G>A NA NA NA NA 11p15.5 NA Name=GR,Pol2 Name=39 NA rs3059 0.71 0.71 0.678 0.640974 0.663 0.8552 0.7925 0.5272 0.4438 0.67 0.89 0.78 0.52 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71805 NA NA NA NA NA 0.594 NA 5.6703334 1085 5 142586694 142586694 A G intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA Score=284;Name=lod=19 NA 5q31.3 NA Name=Pol2-4H8,YY1_(C-20) NA NA rs2074636 0.35 0.35 0.313 0.370607 0.33 0.4792 0.366 0.1899 0.5481 0.34 0.49 0.38 0.21 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.699441 1.699441 NA NA NA ID=COSN167579;OCCURENCE=1(large_intestine) 0.304 NA 5.67 1085 14 107183416 107183416 G A intergenic LINC00221,NONE dist=231887;dist=NONE NA NA ncRNA_exonic ENSG00000254056 NA NA NA Score=439;Name=lod=81 NA 14q32.33 NA Name=Znf143_(16618-1-AP),PU.1,ELF1_(SC-631),CTCF,CTCF_(SC-5916),USF-1 NA NA rs3213595 0.49 0.49 0.444 0.535942 0.33 0.4286 0.3833 0.77 0.6503 0.37 0.43 0.45 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184849 NA NA NA NA NA 0.536 NA 5.67 1085 22 22868776 22868776 G A exonic ZNF280A NA synonymous SNV ZNF280A:NM_080740:exon2:c.C1179T:p.P393P exonic ENSG00000169548 NA synonymous SNV ENSG00000169548:ENST00000302097:exon2:c.C1179T:p.P393P Score=512;Name=lod=161 NA 22q11.22 NA Name=CTCF NA NA rs362173 0.52 0.52 0.444 0.47504 0.7068 0.4137 0.7334 0.2405 0.4335 0.69 0.42 0.69 0.24 0.6102 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906215 NA NA 0.680242 0.307535 ID=COSM1179798;OCCURENCE=1(prostate) 0.413 NA 5.6694246 1085 7 102572433 102572433 A C intronic FBXL13,LRRC17 NA NA NA intronic ENSG00000128606,ENSG00000161040 NA NA NA Score=289;Name=lod=20 NA 7q22.1 NA NA Name=5 NA rs55781834 0.13 0.13 0.127 0.111222 0.1789 0.0099 0.1412 0.1377 0.089 0.19 0.01 0.17 0.15 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929971 NA NA 0.151791 0.135838 NA 0.13 NA 5.669309 1085 22 22868773 22868773 G A exonic ZNF280A NA synonymous SNV ZNF280A:NM_080740:exon2:c.C1182T:p.Y394Y exonic ENSG00000169548 NA synonymous SNV ENSG00000169548:ENST00000302097:exon2:c.C1182T:p.Y394Y Score=512;Name=lod=161 NA 22q11.22 NA Name=CTCF NA NA rs361737 0.51 0.51 0.447 0.47504 0.7068 0.4137 0.7334 0.2405 0.4335 0.68 0.41 0.67 0.23 0.6104 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066736 NA NA 0.680549 0.307762 ID=COSM1179797;OCCURENCE=1(prostate) 0.413 NA 5.6689176 1085 1 151752383 151752383 G A intronic TDRKH NA NA NA intronic ENSG00000182134 NA NA NA NA NA 1q21.3 Score=859;Name=V$FREAC2_01 NA Name=4 NA rs12754510 0.07 0.07 0.059 0.0704872 0.1252 0.0149 0.0706 0.0756 0.0644 0.13 0.01 0.07 0.05 0.0919 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.041299 3.041299 NA 0.114052 0.077563 NA 0.08 NA 5.668848 1085 1 220154768 220154768 C T exonic EPRS NA synonymous SNV EPRS:NM_004446:exon24:c.G3405A:p.Q1135Q exonic ENSG00000136628 NA synonymous SNV ENSG00000136628:ENST00000366923:exon24:c.G3405A:p.Q1135Q Score=616;Name=lod=426 NA 1q41 NA NA NA NA rs1061160 0.36 0.36 0.369 0.354034 0.3101 0.3423 0.4294 0.3986 0.2975 0.3 0.38 0.41 0.41 0.3461 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089608 NA NA 0.341628 0.374262 NA 0.261 NA 5.6688386 1085 18 24442392 24442392 C A exonic AQP4 NA synonymous SNV AQP4:NM_004028:exon1:c.G135T:p.P45P,AQP4:NM_001650:exon2:c.G201T:p.P67P exonic ENSG00000171885 NA nonsynonymous SNV ENSG00000171885:ENST00000383170:exon2:c.G197T:p.R66L NA NA 18q11.2 NA NA NA NA rs35248760 0.08 0.08 0.054 0.0441294 0.1223 0.001 0.1009 0.0068 0.0184 0.14 0.01 0.14 0.03 0.0873 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.257471 1.257471 NA 0.122093 0.02769 NA 0.167 NA 5.668307 1085 7 142498897 142498897 A G intergenic PRSS3P2,EPHB6 dist=16498;dist=53895 NA NA exonic ENSG00000211772 NA unknown UNKNOWN NA NA 7q34 NA Name=ZBTB7A_(SC-34508),USF-1,THAP1_(SC-98174),E2F6_(H-50) Name=7 NA rs1042959 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4984 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.953973 NA NA NA NA NA 0.058 NA 5.6682667 1085 2 74135898 74135898 A G exonic ACTG2 NA synonymous SNV ACTG2:NM_001199893:exon3:c.A225G:p.E75E,ACTG2:NM_001615:exon4:c.A354G:p.E118E exonic ENSG00000163017 NA synonymous SNV ENSG00000163017:ENST00000409731:exon3:c.A225G:p.E75E,ENSG00000163017:ENST00000345517:exon4:c.A354G:p.E118E,ENSG00000163017:ENST00000442912:exon4:c.A354G:p.E118E,ENSG00000163017:ENST00000409624:exon5:c.A354G:p.E118E Score=594;Name=lod=347 NA 2p13.1 Score=920;Name=V$TCF11_01 NA NA NA rs756128 0.59 0.59 0.535 0.571885 0.6938 0.5258 0.7594 0.3903 0.6063 0.7 0.51 0.72 0.43 0.6403 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17106 NA NA 0.664302 0.444848 NA 0.558 NA 5.6682646 1085 10 123848113 123848113 G A intronic TACC2 NA NA NA exonic ENSG00000138162 NA synonymous SNV ENSG00000138162:ENST00000453444:exon4:c.G5580A:p.A1860A,ENSG00000138162:ENST00000515273:exon5:c.G5580A:p.A1860A Score=340;Name=lod=32 NA 10q26.13 NA NA NA NA rs72839700 0.07 0.07 0.06 0.0766773 0.0437 0.0536 0.1441 0.0893 0.0695 0.05 0.06 0.09 0.09 0.0835 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020821 NA NA 0.037907 0.074444 NA 0.072 NA 5.6682263 1085 4 48088419 48088419 C T intronic TXK NA NA NA intronic ENSG00000074966 NA NA NA NA NA 4p12 NA Name=p300_(N-15),CEBPB Name=6 NA rs6833403 0.46 0.46 0.452 0.460064 0.332 0.7649 0.3818 0.3404 0.4949 0.34 0.74 0.38 0.4 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184607 NA NA NA NA NA 0.457 NA 5.668 1085 1 145533175 145533175 T C exonic ITGA10 NA synonymous SNV ITGA10:NM_003637:exon11:c.T1270C:p.L424L exonic ENSG00000143127 NA synonymous SNV ENSG00000143127:ENST00000539363:exon7:c.T841C:p.L281L,ENSG00000143127:ENST00000538811:exon8:c.T877C:p.L293L,ENSG00000143127:ENST00000369304:exon11:c.T1270C:p.L424L NA NA 1q21.1 Score=890;Name=V$CEBPA_01 NA NA NA rs11590105 0.22 0.22 0.173 0.19988 0.3559 0.1617 0.3458 0.062 0.1616 0.34 0.12 0.36 0.06 0.2926 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173514 NA NA 0.350581 0.113482 NA 0.181 NA 5.6675856 1085 1 145074939 145074939 T C intronic NBPF9,PDE4DIP NA NA NA UTR3 ENSG00000178104 ENST00000369345:c.*25A>G NA NA NA NA 1q21.1 NA Name=USF2,SUZ12 Name=117 NA rs1663854 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4997 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815532 NA NA NA NA NA 0.464 NA 5.6669667 1085 18 55862847 55862847 G A UTR5 NEDD4L NM_001144970:c.-126825G>A NA NA ncRNA_exonic ENSG00000267743 NA NA NA NA NA 18q21.31 NA Name=c-Myc Name=49 NA rs1008899 0.29 0.29 0.219 0.270367 0.2505 0.501 0.3357 0.0651 0.2843 0.25 0.49 0.33 0.06 0.3166 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.481345 NA NA 0.265947 0.098174 NA 0.159 NA 5.666953 1085 7 142498735 142498735 A C intergenic PRSS3P2,EPHB6 dist=16336;dist=54057 NA NA exonic ENSG00000211772 NA unknown UNKNOWN NA NA 7q34 NA Name=E2F6_(H-50),USF-1 Name=7 NA rs377360215 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4998 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280553 NA 0.35 NA NA NA 0.362 NA 5.6668667 1085 7 142498738 142498738 C G intergenic PRSS3P2,EPHB6 dist=16339;dist=54054 NA NA exonic ENSG00000211772 NA unknown UNKNOWN NA NA 7q34 NA Name=E2F6_(H-50),USF-1 Name=7 NA rs370415932 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4998 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083206 NA 0.81 NA NA NA 0.362 NA 5.6668667 1085 1 16972920 16972920 C T ncRNA_exonic MST1P2 NA NA NA ncRNA_exonic ENSG00000186301 NA NA NA Score=454;Name=lod=93 NA 1p36.13 NA NA NA NA rs4661882 NA NA 0.251 NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338912 NA 1 NA NA NA 0.051 NA 5.6666666 1085 1 16974869 16974869 G C ncRNA_exonic MST1P2 NA NA NA ncRNA_exonic ENSG00000186301 NA NA NA Score=651;Name=lod=592 NA 1p36.13 NA NA NA NA rs4570422 NA NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374708 NA NA NA NA NA NA NA 5.6666666 1085 1 149648547 149648547 C T ncRNA_intronic LINC00869 NA NA NA ncRNA_exonic ENSG00000239903 NA NA NA Score=825;Name=lod=3016 NA 1q21.2 NA NA NA NA rs482887 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246879 NA NA NA NA NA NA NA 5.6666666 1085 1 149648696 149648696 G A ncRNA_intronic LINC00869 NA NA NA ncRNA_exonic ENSG00000239903 NA NA NA Score=825;Name=lod=3016 NA 1q21.2 NA NA NA NA rs654715 NA NA 0.405 NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172558 NA NA NA NA NA 0.399 NA 5.6666666 1085 2 132292791 132292791 T C ncRNA_intronic RNU6-81P NA NA NA ncRNA_exonic ENSG00000224679 NA NA NA Score=575;Name=lod=289 NA 2q21.1 NA NA NA NA rs3101988 0.41 0.41 0.348 NA NA NA NA NA NA 0.28 0.66 0.46 0.3 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4131 NA NA NA NA NA 0.246 NA 5.6666666 1085 3 75478181 75478181 C A ncRNA_intronic FAM86DP NA NA NA ncRNA_intronic ENSG00000244026 NA NA NA NA NA 3p12.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093914 NA NA NA NA NA NA NA 5.6666666 1085 6 32522691 32522691 G A ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA Score=455;Name=lod=94 NA 6p21.32 NA NA NA NA rs111879084 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043507 NA NA NA NA NA 0.007 NA 5.6666666 1085 6 32522698 32522698 G T ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA Score=455;Name=lod=94 NA 6p21.32 NA NA NA NA rs112519097 NA NA 0.136 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468861 NA NA NA NA NA NA NA 5.6666666 1085 6 32522703 32522703 T G ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA Score=455;Name=lod=94 NA 6p21.32 NA NA NA NA rs112117115 NA NA 0.157 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376312 NA NA NA NA NA NA NA 5.6666666 1085 7 6777275 6777275 C T ncRNA_exonic PMS2CL NA NA NA ncRNA_exonic ENSG00000187953 NA NA NA NA NA 7p22.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250093 NA NA NA NA NA NA NA 5.6666666 1085 7 65228128 65228128 C T ncRNA_intronic CCT6P1,LOC441242 NA NA NA ncRNA_intronic ENSG00000228409 NA NA NA NA NA 7q11.21 NA NA Name=46 NA rs2900854 NA NA 0.319 NA NA NA NA NA NA NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524577 NA NA NA NA NA 0.123 NA 5.6666666 1085 7 76631462 76631462 A G ncRNA_intronic DTX2P1-UPK3BP1-PMS2P11 NA NA NA ncRNA_intronic ENSG00000186704,ENSG00000265479 NA NA NA NA NA 7q11.23 NA Name=c-Myc NA NA rs7802941 NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14416 NA NA NA NA NA 0.022 NA 5.6666666 1085 8 12232344 12232344 C A ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000254423 NA NA NA Score=658;Name=lod=629 NA 8p23.1 NA NA NA NA rs2684053 0.22 0.22 0.195 NA NA NA NA NA NA 0.25 0.27 0.19 0.15 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494114 NA NA NA NA NA 0.007 NA 5.6666666 1085 8 12232423 12232423 A G ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000254423 NA NA NA Score=658;Name=lod=629 NA 8p23.1 NA NA NA NA rs2739957 0.43 0.43 0.464 NA NA NA NA NA NA 0.44 0.33 0.39 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410959 NA NA NA NA NA 0.261 NA 5.6666666 1085 8 12232534 12232534 T C ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000254423 NA NA NA Score=658;Name=lod=629 NA 8p23.1 NA NA NA NA rs2739958 0.41 0.41 0.41 NA NA NA NA NA NA 0.4 0.32 0.37 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298272 NA NA NA NA NA 0.152 NA 5.6666666 1085 8 12237153 12237153 T A ncRNA_exonic LOC649352 NA NA NA ncRNA_exonic ENSG00000255556 NA NA NA Score=426;Name=lod=72 NA 8p23.1 NA NA NA NA rs2739963 0.48 0.48 0.421 NA NA NA NA NA NA 0.48 0.36 0.43 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.668762 NA NA NA NA NA NA NA 5.6666666 1085 8 12237472 12237472 A G ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000255556 NA NA NA Score=534;Name=lod=198 NA 8p23.1 NA NA NA NA rs2739964 0.46 0.46 0.48 NA NA NA NA NA NA 0.45 0.34 0.41 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257676 NA NA NA NA NA 0.08 NA 5.6666666 1085 9 66500794 66500794 T C ncRNA_exonic PTGER4P2-CDK2AP2P2 NA NA NA ncRNA_exonic ENSG00000237451 NA NA NA Score=391;Name=lod=52 NA 9q13 NA NA NA NA rs7866420 NA NA 0.391 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065485 NA NA NA NA NA 0.007 NA 5.6666666 1085 9 68429060 68429060 A C ncRNA_intronic LOC642236 NA NA NA ncRNA_intronic ENSG00000215548 NA NA NA NA NA 9q13 Score=855;Name=V$FREAC3_01 NA NA NA rs62543296 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427968 NA NA NA NA NA NA NA 5.6666666 1085 9 68429112 68429112 A G ncRNA_exonic LOC642236 NA NA NA ncRNA_exonic ENSG00000215548 NA NA NA Score=594;Name=lod=345 NA 9q13 NA NA NA NA rs62543297 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915666 NA NA NA NA NA 0.007 NA 5.6666666 1085 9 68429139 68429139 T G ncRNA_exonic LOC642236 NA NA NA ncRNA_exonic ENSG00000215548 NA NA NA Score=594;Name=lod=345 NA 9q13 NA NA NA NA rs62543298 NA NA 0.621 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166765 NA NA NA NA NA 0.007 NA 5.6666666 1085 9 68429175 68429175 A C ncRNA_exonic LOC642236 NA NA NA ncRNA_exonic ENSG00000215548 NA NA NA Score=594;Name=lod=345 NA 9q13 NA NA NA NA rs71222000 NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680791 NA NA NA NA NA NA NA 5.6666666 1085 9 68433462 68433462 T C ncRNA_intronic LOC642236 NA NA NA ncRNA_intronic ENSG00000215548 NA NA NA Score=603;Name=lod=375 NA 9q13 NA NA NA NA rs111392331 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252865 NA NA NA NA NA NA NA 5.6666666 1085 9 88437773 88437773 C G ncRNA_intronic LOC389765 NA NA NA ncRNA_intronic ENSG00000165121 NA NA NA NA NA 9q21.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.188512 NA NA NA NA NA NA NA 5.6666666 1085 10 47133833 47133833 A G ncRNA_exonic HNRNPA1P33 NA NA NA ncRNA_exonic ENSG00000213412 NA NA NA Score=520;Name=lod=173 NA 10q11.22 NA NA NA NA rs4568947 NA NA 0.427 NA NA NA NA NA NA NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750514 NA NA NA NA NA 0.457 NA 5.6666666 1085 12 9392975 9392975 C G ncRNA_exonic LOC100499405 NA NA NA ncRNA_exonic ENSG00000237248 NA NA NA NA NA 12p13.31 NA NA Name=6 NA rs34368 NA NA 0.51 NA NA NA NA NA NA NA NA NA NA NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.616919 1.616919 NA NA NA NA 0.594 NA 5.6666666 1085 12 9583324 9583324 G A ncRNA_exonic DDX12P NA NA NA ncRNA_exonic ENSG00000214826 NA NA NA Score=539;Name=lod=206 NA 12p13.31 NA NA NA NA rs4012577 0.44 0.44 0.42 NA NA NA NA NA NA 0.44 0.52 0.47 0.31 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.047659 2.047659 0.01 NA NA ID=COSM432017;OCCURENCE=2(breast) NA NA 5.6666666 1085 15 20496657 20496657 C T ncRNA_exonic CHEK2P2 NA NA NA ncRNA_exonic ENSG00000259156 NA NA NA Score=251;Name=lod=14 NA 15q11.1 NA NA NA NA rs7180374 NA NA 0.105 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315532 NA NA NA NA NA 0.007 NA 5.6666666 1085 15 21936925 21936925 C T ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA Score=722;Name=lod=1143 NA 15q11.2 NA NA NA NA rs28423023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.954848 NA NA NA NA NA 0.232 NA 5.6666666 1085 15 21936992 21936992 C T ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA Score=722;Name=lod=1143 NA 15q11.2 NA NA NA NA rs4984136 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.918756 NA NA NA NA NA 0.565 NA 5.6666666 1085 15 21937168 21937168 C T ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA Score=722;Name=lod=1143 NA 15q11.2 NA NA NA NA rs12185110 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025764 NA NA NA NA NA 0.232 NA 5.6666666 1085 15 21937553 21937553 T C ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA Score=468;Name=lod=106 NA 15q11.2 NA NA NA NA rs28626937 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813991 NA NA NA NA NA 0.239 NA 5.6666666 1085 15 21937964 21937964 A G ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA Score=313;Name=lod=25 NA 15q11.2 NA NA NA NA rs28428761 NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779688 NA NA NA NA NA 0.232 NA 5.6666666 1085 15 22333187 22333187 T C ncRNA_intronic LOC727924 NA NA NA ncRNA_exonic ENSG00000258652 NA NA NA Score=358;Name=lod=38 NA 15q11.2 NA NA NA NA rs1864288 NA NA 0.366 NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670264 NA NA NA NA NA 0.29 NA 5.6666666 1085 16 22441095 22441095 A G ncRNA_intronic RRN3P3 NA NA NA ncRNA_intronic ENSG00000257122 NA NA NA Score=591;Name=lod=335 NA 16p12.2 NA NA NA NA rs78137544 NA NA 0.268 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194634 NA NA NA NA NA NA NA 5.6666666 1085 16 33489895 33489895 A G ncRNA_intronic RNU6-76P NA NA NA ncRNA_exonic ENSG00000260518 NA NA NA Score=560;Name=lod=251 NA 16p11.2 NA NA NA NA rs4887662 NA NA 0.353 NA NA NA NA NA NA NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957242 NA NA NA NA NA 0.406 NA 5.6666666 1085 16 33490018 33490018 T C ncRNA_intronic RNU6-76P NA NA NA ncRNA_exonic ENSG00000260518 NA NA NA Score=519;Name=lod=171 NA 16p11.2 NA NA NA NA rs28645082 NA NA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738729 NA NA NA NA NA 0.42 NA 5.6666666 1085 16 33500509 33500509 C T ncRNA_intronic RNU6-76P NA NA NA ncRNA_exonic ENSG00000260518 NA NA NA Score=671;Name=lod=712 NA 16p11.2 NA NA NA NA rs28500776 NA NA 0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.440101 1.440101 0 NA NA NA NA NA 5.6666666 1085 16 33500537 33500537 C T ncRNA_intronic RNU6-76P NA NA NA ncRNA_exonic ENSG00000260518 NA NA NA Score=671;Name=lod=712 NA 16p11.2 NA NA NA NA rs12923870 NA NA 0.321 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26992 1.26992 NA NA NA NA NA NA 5.6666666 1085 17 66126338 66126338 G T ncRNA_exonic LINC00674 NA NA NA ncRNA_exonic ENSG00000267023 NA NA NA NA NA 17q24.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.361477 1.361477 NA NA NA NA NA NA 5.6666666 1085 19 21565942 21565942 T C ncRNA_exonic ZNF738 NA NA NA ncRNA_exonic ENSG00000213976 NA NA NA NA NA 19p12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.180691 2.180691 NA NA NA NA NA NA 5.6666666 1085 22 22661318 22661318 T C ncRNA_intronic LOC96610 NA NA NA ncRNA_exonic ENSG00000236850 NA NA NA Score=707;Name=lod=995 NA 22q11.22 NA NA NA NA rs1044437 0.36 0.36 0.358 NA NA NA NA NA NA 0.4 0.15 0.38 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.994634 2.994634 NA NA NA NA 0.355 NA 5.6666666 1085 X 1531520 1531520 C G ncRNA_intronic ASMTL-AS1 NA NA NA ncRNA_intronic ENSG00000236017 NA NA NA Score=304;Name=lod=23 NA Xp22.33 NA NA NA NA rs5949003 0.4 0.4 0.41335 NA NA NA NA NA NA 0.44 0.37 0.41 0.38 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577424 NA NA NA NA NA 0.413 NA 5.6666666 1085 17 76487668 76487668 G A ncRNA_intronic LOC100996295 NA NA NA ncRNA_intronic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003748 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493752 NA NA NA NA NA NA NA 5.6666291 1085 2 103300756 103300756 G A exonic SLC9A2 NA synonymous SNV SLC9A2:NM_003048:exon5:c.G1386A:p.T462T exonic ENSG00000115616 NA synonymous SNV ENSG00000115616:ENST00000233969:exon5:c.G1386A:p.T462T NA NA 2q12.1 NA NA NA NA rs201428753 0.0005 0.0005 NA 0.000199681 NA NA NA 0.0008 NA NA NA NA 0.002 0.00004119 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287988 NA NA NA NA NA NA NA 5.6666254 1085 20 23669406 23669406 C T exonic CST4 NA synonymous SNV CST4:NM_001899:exon1:c.G201A:p.P67P exonic ENSG00000101441 NA synonymous SNV ENSG00000101441:ENST00000217423:exon1:c.G201A:p.P67P NA NA 20p11.21 NA NA NA NA rs191660510 0.0005 0.0005 NA 0.000599042 NA NA 0.0014 0.0015 NA NA NA 0.0028 NA 0.0001 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273506 NA NA 0 0.000227 NA 0.007 NA 5.6665666 1085 16 3487470 3487470 A G exonic ZNF597 NA synonymous SNV ZNF597:NM_152457:exon4:c.T229C:p.L77L exonic ENSG00000167981 NA synonymous SNV ENSG00000167981:ENST00000301744:exon4:c.T229C:p.L77L NA NA 16p13.3 NA NA NA NA rs369212733 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003299 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.287098 NA NA 0.000116 0 NA NA NA 5.6665176 1085 16 1575309 1575309 C T exonic IFT140 NA synonymous SNV IFT140:NM_014714:exon22:c.G2787A:p.T929T exonic ENSG00000187535 NA synonymous SNV ENSG00000187535:ENST00000361339:exon4:c.G369A:p.T123T,ENSG00000187535:ENST00000426508:exon22:c.G2787A:p.T929T NA NA 16p13.3 NA NA NA NA rs374661866 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799387 NA NA NA NA NA NA NA 5.6664666 1085 17 21319008 21319008 G C exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.G354C:p.R118R,KCNJ12:NM_021012:exon3:c.G354C:p.R118R exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G354C:p.R118R,ENSG00000184185:ENST00000583088:exon3:c.G354C:p.R118R NA NA 17p11.2 Score=767;Name=V$MIF1_01 NA NA NA rs1657741 NA NA NA 0.498802 0.5 0.5 0.5 0.4962 0.499 NA NA NA NA 0.5002 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822211 NA NA NA NA NA 0.007 NA 5.6664666 1085 11 101833008 101833008 A G exonic KIAA1377 NA synonymous SNV KIAA1377:NM_020802:exon6:c.A1242G:p.T414T exonic ENSG00000110318 NA synonymous SNV ENSG00000110318:ENST00000537689:exon3:c.A645G:p.T215T,ENSG00000110318:ENST00000263468:exon6:c.A1242G:p.T414T NA NA 11q22.1 NA NA NA NA rs373938848 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009149 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.290791 NA NA 0.000116 0.000227 NA NA NA 5.6664591 1085 1 229738080 229738080 G A exonic TAF5L NA synonymous SNV TAF5L:NM_001025247:exon4:c.C834T:p.P278P,TAF5L:NM_014409:exon4:c.C834T:p.P278P exonic ENSG00000135801 NA synonymous SNV ENSG00000135801:ENST00000366676:exon3:c.C834T:p.P278P,ENSG00000135801:ENST00000258281:exon4:c.C834T:p.P278P,ENSG00000135801:ENST00000366675:exon4:c.C834T:p.P278P NA NA 1q42.13 NA NA NA NA rs150230938 0.0018 0.0018 0.01 0.000798722 NA NA NA 0.003 NA 0.0013 NA NA 0.01 0.00009886 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419641 NA NA 0.000116 0.000227 NA 0.007 NA 5.6664517 1085 14 51259463 51259463 C T exonic NIN NA synonymous SNV NIN:NM_016350:exon5:c.G402A:p.R134R,NIN:NM_020921:exon5:c.G402A:p.R134R,NIN:NM_182944:exon5:c.G402A:p.R134R,NIN:NM_182946:exon5:c.G402A:p.R134R exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000530997:exon3:c.G402A:p.R134R,ENSG00000100503:ENST00000382043:exon4:c.G402A:p.R134R,ENSG00000100503:ENST00000245441:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000324330:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000382041:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000389868:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000453196:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000453401:exon5:c.G288A:p.R96R,ENSG00000100503:ENST00000476352:exon5:c.G402A:p.R134R NA NA 14q22.1 NA NA NA NA rs146441468 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168968 NA NA 0.000116 0 ID=COSM1370038,COSM1370040,COSM1370039;OCCURENCE=1(large_intestine) NA NA 5.6663506 1085 2 160035195 160035195 C T exonic TANC1 NA synonymous SNV TANC1:NM_001145909:exon14:c.C2007T:p.N669N,TANC1:NM_033394:exon14:c.C2031T:p.N677N exonic ENSG00000115183 NA synonymous SNV ENSG00000115183:ENST00000454300:exon12:c.C1713T:p.N571N,ENSG00000115183:ENST00000263635:exon14:c.C2031T:p.N677N Score=596;Name=lod=352 NA 2q24.2 NA NA NA NA rs12988603 0.21 0.21 0.195 0.159744 0.3688 0.0635 0.2478 0.0703 0.1022 0.36 0.06 0.28 0.08 0.2707 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809485 NA NA 0.361059 0.126439 NA 0.261 NA 5.6661076 1085 3 191087546 191087546 A G intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA Name=p300,CEBPB Name=58 NA rs4677632 0.3 0.3 0.276 0.286542 0.334 0.25 0.3256 0.3048 0.2229 0.34 0.21 0.34 0.32 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518964 NA NA NA NA NA 0.239 NA 5.666 1085 18 34310668 34310668 C T exonic FHOD3 NA synonymous SNV FHOD3:NM_025135:exon17:c.C2952T:p.N984N exonic ENSG00000134775 NA synonymous SNV ENSG00000134775:ENST00000591635:exon9:c.C540T:p.N180N,ENSG00000134775:ENST00000359247:exon16:c.C2901T:p.N967N,ENSG00000134775:ENST00000445677:exon16:c.C2838T:p.N946N,ENSG00000134775:ENST00000257209:exon17:c.C2952T:p.N984N,ENSG00000134775:ENST00000590592:exon20:c.C3477T:p.N1159N Score=526;Name=lod=183 NA 18q12.2 NA NA NA NA rs3744903 0.29 0.29 0.267 0.319489 0.3161 0.3194 0.4452 0.1505 0.4622 0.3 0.33 0.41 0.14 0.342 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69591 NA NA 0.342674 0.188606 NA 0.319 NA 5.6658926 1085 10 43019172 43019172 A C ncRNA_exonic ZNF37BP NA NA NA ncRNA_exonic ENSG00000234420 NA NA NA Score=383;Name=lod=48 NA 10q11.21 NA NA NA NA rs140805664 0.0009 0.0009 0.002 0.00239617 0.001 NA 0.0014 0.0076 NA NA NA NA 0.0041 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581468 NA NA NA NA NA 0.007 NA 5.6656666 1085 11 2167401 2167401 G A ncRNA_intronic IGF2-AS NA NA NA ncRNA_intronic ENSG00000099869 NA NA NA NA NA 11p15.5 NA NA NA NA NA NA NA NA 0.000399361 0.001 NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714707 NA NA NA NA NA NA NA 5.6656666 1085 11 102677792 102677792 T A ncRNA_intronic WTAPP1 NA NA NA ncRNA_exonic ENSG00000256035 NA NA NA Score=732;Name=lod=1261 NA 11q22.2 NA NA NA NA rs58369813 0.02 0.02 0.022 0.0267572 0.001 NA 0.0086 0.0961 NA NA NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411992 NA NA NA NA NA 0.036 NA 5.6656666 1085 19 21564053 21564053 G A ncRNA_exonic ZNF738 NA NA NA ncRNA_exonic ENSG00000268731 NA NA NA Score=569;Name=lod=273 NA 19p12 NA NA NA NA rs61753928 0.0037 0.0037 0.005 0.00838658 0.001 NA 0.0014 0.0303 NA NA NA 0.0028 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738549 NA NA NA NA NA 0.007 NA 5.6656666 1085 16 601653 601653 C T exonic SOLH NA synonymous SNV SOLH:NM_005632:exon9:c.C2334T:p.G778G exonic ENSG00000103326 NA synonymous SNV ENSG00000103326:ENST00000219611:exon9:c.C2334T:p.G778G NA NA 16p13.3 NA NA NA NA rs144075530 0.0027 0.0027 0.006 0.00259585 NA NA 0.0014 0.0091 NA NA NA NA 0.01 0.0009 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471488 NA NA 0.000233 0.008864 NA 0.007 NA 5.6655336 1085 19 53432483 53432483 G A exonic ZNF816-ZNF321P NA synonymous SNV ZNF816-ZNF321P:NM_001202473:exon4:c.C375T:p.H125H exonic ENSG00000180257,ENSG00000221874 NA synonymous SNV ENSG00000180257:ENST00000549216:exon2:c.C168T:p.H56H,ENSG00000221874:ENST00000391777:exon4:c.C375T:p.H125H,ENSG00000180257:ENST00000434371:exon5:c.C375T:p.H125H NA NA 19q13.41 NA NA NA NA rs373329746 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776614 NA NA 0.000698 0 NA NA NA 5.6653686 1085 6 29976917 29976917 C T ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078687 NA NA NA NA NA NA NA 5.6653666 1085 17 7365991 7365991 G A exonic ZBTB4 NA synonymous SNV ZBTB4:NM_001128833:exon4:c.C2310T:p.C770C,ZBTB4:NM_020899:exon4:c.C2310T:p.C770C exonic ENSG00000174282 NA synonymous SNV ENSG00000174282:ENST00000311403:exon4:c.C2310T:p.C770C,ENSG00000174282:ENST00000380599:exon4:c.C2310T:p.C770C NA NA 17p13.1 NA NA NA NA rs138237886 0.0023 0.0023 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA 0.01 0.0003 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216933 NA NA NA NA NA NA NA 5.6653666 1085 19 38851210 38851210 C T exonic CATSPERG NA synonymous SNV CATSPERG:NM_021185:exon15:c.C1690T:p.L564L exonic ENSG00000099338 NA synonymous SNV ENSG00000099338:ENST00000410018:exon14:c.C1570T:p.L524L,ENSG00000099338:ENST00000409235:exon15:c.C1690T:p.L564L,ENSG00000099338:ENST00000409410:exon15:c.C1690T:p.L564L NA NA 19q13.2 NA NA NA NA rs200137453 0.0009 0.0009 NA 0.000599042 0.001 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0004 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092291 NA NA NA NA NA NA NA 5.6652666 1085 9 117063988 117063988 C T exonic COL27A1 NA synonymous SNV COL27A1:NM_032888:exon55:c.C4836T:p.P1612P exonic ENSG00000196739 NA synonymous SNV ENSG00000196739:ENST00000356083:exon55:c.C4836T:p.P1612P NA NA 9q32 NA NA NA NA rs142505089 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0003 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678869 NA NA 0.000116 0 ID=COSM1166305;OCCURENCE=1(large_intestine) NA NA 5.6652506 1085 10 15255283 15255283 G A exonic FAM171A1 NA synonymous SNV FAM171A1:NM_001010924:exon8:c.C2304T:p.P768P exonic ENSG00000148468 NA synonymous SNV ENSG00000148468:ENST00000378116:exon8:c.C2304T:p.P768P NA NA 10p13 NA NA NA NA rs139938475 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.670128 NA NA 0.000233 0 NA NA NA 5.6652336 1085 19 16238279 16238279 C T exonic RAB8A NA synonymous SNV RAB8A:NM_005370:exon5:c.C357T:p.L119L exonic ENSG00000167461 NA synonymous SNV ENSG00000167461:ENST00000300935:exon5:c.C357T:p.L119L,ENSG00000167461:ENST00000586682:exon5:c.C357T:p.L119L NA NA 19p13.12 Score=849;Name=V$GATA1_03 NA NA NA rs1043308 0.3 0.3 0.284 0.300519 0.337 0.2976 0.379 0.1831 0.3691 0.35 0.3 0.35 0.18 0.3402 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284263 1.284263 NA 0.324302 0.218339 NA 0.304 NA 5.6651646 1086 10 5138607 5138607 G A exonic AKR1C3 NA synonymous SNV AKR1C3:NM_001253908:exon2:c.G90A:p.P30P,AKR1C3:NM_001253909:exon2:c.G90A:p.P30P,AKR1C3:NM_003739:exon2:c.G90A:p.P30P exonic ENSG00000196139 NA synonymous SNV ENSG00000196139:ENST00000380554:exon2:c.G90A:p.P30P,ENSG00000196139:ENST00000605149:exon2:c.G21A:p.P7P,ENSG00000196139:ENST00000602997:exon3:c.G21A:p.P7P NA NA 10p15.1 NA Name=Pol2 NA NA rs7741 0.24 0.24 0.239 0.216254 0.3648 NA 0.196 0.3381 0.136 0.35 NA 0.23 0.35 0.2838 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319791 NA NA 0.353687 0.33704 NA 0.196 NA 5.6643796 1086 21 47961711 47961711 G A exonic DIP2A NA synonymous SNV DIP2A:NM_001146114:exon16:c.G1887A:p.L629L,DIP2A:NM_001146115:exon17:c.G1950A:p.L650L,DIP2A:NM_001146116:exon18:c.G2067A:p.L689L,DIP2A:NM_015151:exon18:c.G2079A:p.L693L,DIP2A:NM_206889:exon18:c.G2079A:p.L693L,DIP2A:NM_206890:exon18:c.G2079A:p.L693L,DIP2A:NM_206891:exon18:c.G2079A:p.L693L exonic ENSG00000160305 NA synonymous SNV ENSG00000160305:ENST00000427143:exon16:c.G1887A:p.L629L,ENSG00000160305:ENST00000466639:exon17:c.G1950A:p.L650L,ENSG00000160305:ENST00000318711:exon18:c.G2082A:p.L694L,ENSG00000160305:ENST00000400274:exon18:c.G2067A:p.L689L,ENSG00000160305:ENST00000417564:exon18:c.G2079A:p.L693L,ENSG00000160305:ENST00000435722:exon18:c.G2079A:p.L693L,ENSG00000160305:ENST00000457905:exon18:c.G2079A:p.L693L Score=309;Name=lod=24 NA 21q22.3 NA NA NA NA rs2070435 0.39 0.39 0.42 0.38738 0.3439 0.4058 0.2147 0.5408 0.3282 0.34 0.44 0.23 0.54 0.34 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166672 NA NA 0.318664 0.480463 NA 0.536 NA 5.6641026 1086 9 6253571 6253571 C T exonic IL33 NA synonymous SNV IL33:NM_001199641:exon3:c.C111T:p.Y37Y,IL33:NM_001199640:exon5:c.C363T:p.Y121Y,IL33:NM_033439:exon6:c.C489T:p.Y163Y exonic ENSG00000137033 NA synonymous SNV ENSG00000137033:ENST00000417746:exon3:c.C111T:p.Y37Y,ENSG00000137033:ENST00000381434:exon5:c.C489T:p.Y163Y,ENSG00000137033:ENST00000456383:exon5:c.C363T:p.Y121Y NA Name=Endometriosis 9p24.1 NA NA NA NA rs10975519 0.4 0.4 0.367 0.405152 0.3231 0.4375 0.4524 0.4175 0.4059 0.32 0.46 0.43 0.41 0.377 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.970621 NA NA 0.302558 0.380844 NA 0.341 NA 5.6640086 1086 10 99159963 99159963 C G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA Name=FOSL1_(SC-183),Pol2,eGFP-JunD,JunD,FOSL2,Sin3Ak-20,c-Jun Name=137 NA rs9888117 0.37 0.37 0.38 0.400759 0.336 0.3125 0.3444 0.5386 0.4121 0.33 0.28 0.33 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.509002 1.509002 NA NA NA NA 0.304 NA 5.664 1086 22 19197896 19197896 T C exonic CLTCL1 NA synonymous SNV CLTCL1:NM_001835:exon20:c.A3189G:p.A1063A,CLTCL1:NM_007098:exon20:c.A3189G:p.A1063A exonic ENSG00000070371 NA synonymous SNV ENSG00000070371:ENST00000263200:exon20:c.A3189G:p.A1063A,ENSG00000070371:ENST00000353891:exon20:c.A3189G:p.A1063A,ENSG00000070371:ENST00000427926:exon20:c.A3189G:p.A1063A,ENSG00000070371:ENST00000505027:exon20:c.A3189G:p.A1063A Score=437;Name=lod=80 NA 22q11.21 NA Name=ZNF263 NA NA rs698423 0.8 0.8 0.806 0.848043 0.6272 0.9365 0.7767 0.9652 0.8763 0.64 0.94 0.72 0.96 0.7356 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507748 NA NA 0.640459 0.915238 NA 0.812 NA 5.6634076 1086 16 30097630 30097630 C T exonic TBX6 NA synonymous SNV TBX6:NM_004608:exon9:c.G1227A:p.P409P exonic ENSG00000149922 NA synonymous SNV ENSG00000149922:ENST00000279386:exon8:c.G1227A:p.P409P,ENSG00000149922:ENST00000395224:exon9:c.G1227A:p.P409P NA NA 16p11.2 Score=845;Name=V$HNF4_01 NA NA NA rs2289292 0.31 0.31 0.281 0.250799 0.339 0.4633 0.3112 0.0219 0.2076 0.36 0.5 0.31 0.03 0.3259 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428988 NA NA 0.338413 0.08102 ID=COSM330328;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) 0.239 NA 5.6633536 1086 14 65253668 65253668 G A exonic SPTB NA synonymous SNV SPTB:NM_000347:exon15:c.C3015T:p.A1005A,SPTB:NM_001024858:exon15:c.C3015T:p.A1005A exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000389720:exon15:c.C3015T:p.A1005A,ENSG00000070182:ENST00000389721:exon15:c.C3015T:p.A1005A,ENSG00000070182:ENST00000389722:exon15:c.C3015T:p.A1005A,ENSG00000070182:ENST00000542895:exon16:c.C3015T:p.A1005A,ENSG00000070182:ENST00000556626:exon16:c.C3015T:p.A1005A NA NA 14q23.3 NA NA NA NA rs147235045 0.0009 0.0009 0 0.00139776 0.001 NA 0.0014 NA 0.0051 0.0013 NA 0.0028 NA 0.0012 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339591 NA NA 0.001279 0.000227 NA 0.007 NA 5.6631876 1086 1 155403848 155403848 G A ncRNA_exonic POU5F1P4 NA NA NA ncRNA_exonic ENSG00000237872 NA NA NA Score=723;Name=lod=1159 NA 1q22 NA NA NA NA rs16865367 0.01 0.01 0.011 0.0117812 NA NA NA 0.0446 NA NA NA 0.0028 0.03 0.0038 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242944 NA NA NA NA NA 0.022 NA 5.6628666 1086 13 37012831 37012831 G A exonic CCNA1 NA synonymous SNV CCNA1:NM_001111045:exon5:c.G717A:p.T239T,CCNA1:NM_001111046:exon5:c.G588A:p.T196T,CCNA1:NM_001111047:exon5:c.G588A:p.T196T,CCNA1:NM_003914:exon5:c.G720A:p.T240T exonic ENSG00000133101 NA synonymous SNV ENSG00000133101:ENST00000255465:exon5:c.G720A:p.T240T,ENSG00000133101:ENST00000418263:exon5:c.G717A:p.T239T,ENSG00000133101:ENST00000440264:exon5:c.G588A:p.T196T,ENSG00000133101:ENST00000449823:exon5:c.G588A:p.T196T NA NA 13q13.3 NA NA NA NA rs61755283 0.0037 0.0037 0.004 0.00359425 0.002 NA 0.0043 0.0098 NA 0.0013 NA NA 0.01 0.0013 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450022 NA NA 0.000698 0.001816 NA 0.007 NA 5.6626686 1086 4 146560429 146560429 T C exonic MMAA NA synonymous SNV MMAA:NM_172250:exon2:c.T138C:p.S46S exonic ENSG00000151611 NA synonymous SNV ENSG00000151611:ENST00000511969:exon1:c.T138C:p.S46S,ENSG00000151611:ENST00000281317:exon2:c.T138C:p.S46S NA NA 4q31.21 NA NA NA NA rs34702224 0.01 0.01 0.02 0.0135783 NA NA 0.0043 0.0492 NA NA NA 0.01 0.05 0.0037 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823993 NA NA 0.000465 0.028597 NA 0.007 NA 5.6625016 1086 12 56748273 56748273 G A exonic STAT2 NA synonymous SNV STAT2:NM_005419:exon8:c.C759T:p.H253H,STAT2:NM_198332:exon8:c.C747T:p.H249H exonic ENSG00000170581 NA synonymous SNV ENSG00000170581:ENST00000314128:exon8:c.C759T:p.H253H,ENSG00000170581:ENST00000418572:exon8:c.C747T:p.H249H,ENSG00000170581:ENST00000557235:exon8:c.C747T:p.H249H NA NA 12q13.3 NA NA NA NA rs147605088 0.0009 0.0009 NA 0.000599042 0.001 NA 0.0029 NA NA NA NA 0.01 NA 0.0018 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033245 NA NA 0.001512 0.000454 NA NA NA 5.6623546 1086 7 36763688 36763688 C T exonic AOAH NA synonymous SNV AOAH:NM_001177507:exon1:c.G66A:p.S22S,AOAH:NM_001637:exon1:c.G66A:p.S22S exonic ENSG00000136250 NA synonymous SNV ENSG00000136250:ENST00000258749:exon1:c.G66A:p.S22S,ENSG00000136250:ENST00000414637:exon1:c.G66A:p.S22S,ENSG00000136250:ENST00000431169:exon1:c.G66A:p.S22S,ENSG00000136250:ENST00000435386:exon1:c.G66A:p.S22S,ENSG00000136250:ENST00000535891:exon1:c.G66A:p.S22S NA NA 7p14.2 NA Name=Pol2-4H8,POU2F2,Oct-2 NA NA rs2228411 0.4 0.4 0.417 0.378195 0.325 0.4177 0.2867 0.553 0.2209 0.31 0.44 0.34 0.53 0.3245 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229431 NA NA 0.354884 0.521788 ID=COSM150268;OCCURENCE=1(breast),1(stomach) 0.551 NA 5.6622826 1086 18 13068921 13068921 C T exonic CEP192 NA synonymous SNV CEP192:NM_032142:exon25:c.C4893T:p.P1631P exonic ENSG00000101639 NA synonymous SNV ENSG00000101639:ENST00000430049:exon15:c.C3468T:p.P1156P,ENSG00000101639:ENST00000510237:exon16:c.C3693T:p.P1231P,ENSG00000101639:ENST00000325971:exon23:c.C3105T:p.P1035P,ENSG00000101639:ENST00000506447:exon25:c.C4893T:p.P1631P NA NA 18p11.21 NA NA NA NA rs143041966 0.0014 0.0014 0.002 0.00119808 0.003 NA 0.0014 NA 0.002 0.0026 NA 0.0028 NA 0.001 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.068828 NA NA 0.000581 0 NA NA NA 5.6620856 1086 2 98354511 98354511 G A exonic ZAP70 NA synonymous SNV ZAP70:NM_207519:exon5:c.G756A:p.E252E,ZAP70:NM_001079:exon13:c.G1677A:p.E559E exonic ENSG00000115085 NA synonymous SNV ENSG00000115085:ENST00000451498:exon5:c.G756A:p.E252E,ENSG00000115085:ENST00000442208:exon11:c.G1299A:p.E433E,ENSG00000115085:ENST00000264972:exon13:c.G1677A:p.E559E Score=475;Name=lod=114 NA 2q11.2 NA NA NA NA rs3192177 0.19 0.19 0.152 0.148363 0.3618 0.0109 0.2075 0.087 0.1115 0.38 0.01 0.22 0.08 0.3012 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911672 NA NA 0.341744 0.125965 NA 0.167 NA 5.6619226 1086 3 101431585 101431585 A C ncRNA_exonic PDCL3P4 NA NA NA ncRNA_exonic ENSG00000244119 NA NA NA Score=741;Name=lod=1363 NA 3q12.3 NA NA NA NA rs191815147 0.0018 0.0018 NA 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235926 NA NA NA NA NA NA NA 5.6616666 1086 2 110922703 110922703 C T exonic NPHP1 NA synonymous SNV NPHP1:NM_001128179:exon5:c.G468A:p.E156E,NPHP1:NM_000272:exon7:c.G654A:p.E218E,NPHP1:NM_001128178:exon7:c.G654A:p.E218E,NPHP1:NM_207181:exon7:c.G654A:p.E218E exonic ENSG00000144061 NA synonymous SNV ENSG00000144061:ENST00000355301:exon5:c.G468A:p.E156E,ENSG00000144061:ENST00000316534:exon7:c.G654A:p.E218E,ENSG00000144061:ENST00000393272:exon7:c.G654A:p.E218E,ENSG00000144061:ENST00000417665:exon7:c.G654A:p.E218E,ENSG00000144061:ENST00000445609:exon7:c.G654A:p.E218E NA NA 2q13 NA NA NA NA rs11675767 0.45 0.45 0.432 0.474441 0.3032 0.5863 0.4193 0.5106 0.5256 0.29 0.58 0.46 0.54 0.3793 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.440221 NA NA 0.322558 0.488652 NA 0.406 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078490.3;CLNDSDB=.;CLNDSDBID=. 5.6616086 1086 5 39074296 39074296 G C intronic RICTOR NA NA NA intronic ENSG00000164327 NA NA NA Score=604;Name=lod=380 NA 5p13.1 NA Name=Pol2-4H8,HA-E2F1,Sin3Ak-20,Ini1,Pol2,TAF1,TBP,CCNT2 Name=25 NA rs2303808 0.43 0.43 0.389 0.426717 0.4592 0.4702 0.3847 0.3797 0.4417 0.46 0.51 0.4 0.31 0.4444 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.06215 2.06215 NA 0.435187 0.385332 NA 0.007 NA 5.661213 1086 7 26779620 26779620 G A intronic SKAP2 NA NA NA intronic ENSG00000005020 NA NA NA NA NA 7p15.2 Score=1000;Name=V$AP2REP_01 NA Name=2 NA rs10246483 0.1 0.1 0.12 0.11901 0.1173 0.0248 0.0879 0.2247 0.0971 0.11 0.03 0.08 0.21 0.1115 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.92352 2.92352 NA 0.11 0.216069 NA 0.174 NA 5.6612 1086 2 25469628 25469628 C T exonic DNMT3A NA synonymous SNV DNMT3A:NM_153759:exon6:c.G573A:p.A191A,DNMT3A:NM_022552:exon10:c.G1140A:p.A380A,DNMT3A:NM_175629:exon10:c.G1140A:p.A380A exonic ENSG00000119772 NA synonymous SNV ENSG00000119772:ENST00000402667:exon5:c.G471A:p.A157A,ENSG00000119772:ENST00000380746:exon6:c.G573A:p.A191A,ENSG00000119772:ENST00000264709:exon10:c.G1140A:p.A380A,ENSG00000119772:ENST00000321117:exon10:c.G1140A:p.A380A,ENSG00000119772:ENST00000380756:exon10:c.G1140A:p.A380A NA NA 2p23.3 NA NA NA NA rs77345627 0.01 0.01 0.011 0.0157748 NA NA 0.0029 0.0582 NA NA NA 0.0028 0.05 0.0052 0.056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876718 NA NA 0.000349 0.056287 NA 0.014 NA 5.6611176 1086 3 184293769 184293769 T C exonic EPHB3 NA synonymous SNV EPHB3:NM_004443:exon4:c.T1008C:p.C336C exonic ENSG00000182580 NA synonymous SNV ENSG00000182580:ENST00000330394:exon4:c.T1008C:p.C336C Score=503;Name=lod=148 NA 3q27.1 NA NA NA NA rs7652597 0.33 0.33 0.373 0.336861 0.3608 0.1657 0.2507 0.5598 0.2485 0.34 0.17 0.29 0.54 0.3143 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317861 1.317861 NA 0.330465 0.533818 NA 0.37 NA 5.6611016 1086 17 1680318 1680318 A G intronic SERPINF1 NA NA NA intronic ENSG00000132386 NA NA NA NA NA 17p13.3 NA Name=HA-E2F1,ERalpha_a Name=5 NA rs9889773 0.44 0.44 0.411 0.435503 0.339 0.5347 0.4885 0.3865 0.4611 0.35 0.55 0.42 0.46 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774848 NA NA NA NA NA 0.355 NA 5.661 1086 19 22155844 22155844 G T exonic ZNF208 NA synonymous SNV ZNF208:NM_007153:exon4:c.C1992A:p.P664P exonic ENSG00000160321 NA synonymous SNV ENSG00000160321:ENST00000397126:exon4:c.C1992A:p.P664P NA NA 19p12 NA NA NA NA rs146289217 0.01 0.01 0.007 0.0181709 NA NA 0.0043 0.0658 0.001 NA NA 0.0028 0.04 0.0058 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.931797 NA NA 0.000474 0.060584 NA NA NA 5.6603926 1086 22 42463814 42463814 C T exonic NAGA NA synonymous SNV NAGA:NM_000262:exon3:c.G279A:p.P93P exonic ENSG00000198951 NA synonymous SNV ENSG00000198951:ENST00000396398:exon3:c.G279A:p.P93P,ENSG00000198951:ENST00000402937:exon4:c.G279A:p.P93P,ENSG00000198951:ENST00000403363:exon4:c.G279A:p.P93P NA NA 22q13.2 NA Name=AP-2gamma Name=2 NA rs133369 0.7 0.7 0.688 0.676917 0.668 0.8532 0.6772 0.5726 0.6452 0.67 0.84 0.69 0.58 0.6728 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949576 NA NA 0.665581 0.597594 NA 0.659 NA 5.6602856 1086 2 160042198 160042198 G A intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA Name=BATF,CTCF,PAX5-C20,GR Name=106 NA rs17494014 0.17 0.17 0.156 0.117612 0.34 0.003 0.2248 0.0174 0.0665 0.34 0.0035 0.25 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01532 NA NA NA NA NA 0.181 NA 5.66 1086 19 49703764 49703764 A G intronic TRPM4 NA NA NA intronic ENSG00000130529 NA NA NA NA NA 19q13.33 NA Name=IRF1,YY1 Name=28 NA rs10403114 0.27 0.27 0.246 0.28774 0.34 0.245 0.2305 0.2436 0.3783 0.32 0.22 0.29 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311331 NA NA NA NA NA 0.268 NA 5.66 1086 19 53959804 53959804 T C exonic ZNF761 NA synonymous SNV ZNF761:NM_001008401:exon7:c.T2043C:p.H681H ncRNA_exonic ENSG00000160336 NA NA NA Score=393;Name=lod=53 NA 19q13.42 NA NA NA NA rs4803129 0.17 0.17 0.182 0.145966 0.165 0.1349 0.1066 0.1914 0.1043 0.17 0.15 0.13 0.22 0.1589 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491021 NA NA 0.182791 0.155016 ID=COSM148731;OCCURENCE=1(stomach) 0.123 NA 5.6599756 1086 20 36859627 36859627 C G exonic KIAA1755 NA synonymous SNV KIAA1755:NM_001029864:exon5:c.G1848C:p.L616L exonic ENSG00000149633 NA synonymous SNV ENSG00000149633:ENST00000279024:exon5:c.G1848C:p.L616L NA NA 20q11.23 NA NA NA NA rs117470471 0.02 0.02 0.014 0.0141773 0.001 0.0417 0.0014 0.0174 0.0041 NA 0.04 0.0028 0.02 0.0054 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.348217 NA NA 0.000349 0.016568 NA NA NA 5.6599176 1086 7 4089011 4089011 G A exonic SDK1 NA synonymous SNV SDK1:NM_152744:exon18:c.G2634A:p.T878T exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon18:c.G2634A:p.T878T,ENSG00000146555:ENST00000404826:exon18:c.G2634A:p.T878T NA NA 7p22.2 NA NA NA NA rs139642198 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0021 0.0027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080055 NA NA 0.002674 0.000908 NA NA NA 5.6598926 1086 7 47917126 47917126 T C exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon22:c.A3624G:p.A1208A exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon22:c.A3624G:p.A1208A NA NA 7p12.3 NA NA NA NA rs139854035 0.0027 0.0027 NA 0.00239617 0.005 NA 0.0101 NA NA 0.0026 NA 0.01 NA 0.0011 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22408 NA NA 0.000814 0.000227 NA NA NA 5.6597526 1086 15 45695763 45695763 G C intronic SPATA5L1 NA NA NA intronic ENSG00000171763 NA NA NA NA NA 15q21.1 NA Name=BAF155,TAF1,YY1_(C-20),Pol2,Pol2(phosphoS2),HEY1,AP-2gamma,TBP,HA-E2F1,Sin3Ak-20 Name=114 NA rs117332547 0.06 0.06 0.061 0.0650958 0.1252 NA 0.1614 0.0038 0.0849 0.12 NA 0.13 0.01 0.1086 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.744394 NA 0.19 0.10649 0.019241 NA 0.058 NA 5.65971 1086 20 31812949 31812949 C T exonic BPIFA3 NA synonymous SNV BPIFA3:NM_001042439:exon3:c.C324T:p.I108I,BPIFA3:NM_178466:exon4:c.C432T:p.I144I exonic ENSG00000131059 NA synonymous SNV ENSG00000131059:ENST00000375452:exon3:c.C324T:p.I108I,ENSG00000131059:ENST00000375454:exon4:c.C432T:p.I144I NA NA 20q11.21 NA NA NA NA rs147632261 0.01 0.01 0.008 0.00479233 0.004 NA 0.0029 0.0136 NA 0.01 NA 0.01 0.02 0.0019 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130387 NA NA 0.001163 0.012256 NA 0.007 NA 5.6596036 1086 18 19995731 19995731 T C exonic CTAGE1 NA nonsynonymous SNV CTAGE1:NM_172241:exon1:c.A2044G:p.I682V exonic ENSG00000212710 NA nonsynonymous SNV ENSG00000212710:ENST00000391403:exon1:c.A2044G:p.I682V NA NA 18q11.2 NA NA NA NA rs9946136 0.18 0.18 0.165 0.187101 0.2346 0.0387 0.1787 0.2481 0.2147 0.24 0.04 0.2 0.23 0.2062 0.25 . . 0.0 B 0.001 B . . 1.000 P 0.41 N 3.19 T -0.908 T 0.000 T 0.106 -0.206 3.003 0.614 0.486 0.319 . -0.205701 NA NA 0.233053 0.252971 NA 0.13 NA 5.6594804 1086 14 106866654 106866654 T C intergenic LINC00226,LINC00221 dist=121688;dist=71801 NA NA exonic ENSG00000211958 NA nonsynonymous SNV ENSG00000211958:ENST00000390618:exon2:c.A100G:p.R34G Score=452;Name=lod=92 NA 14q32.33 NA NA NA NA rs111799426 NA NA 0.111 NA NA NA NA NA NA NA NA NA NA 0.1743 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.464694 NA 1 NA NA NA NA NA 5.6590334 1086 4 82369160 82369160 C T intronic RASGEF1B NA NA NA intronic ENSG00000138670 NA NA NA NA NA 4q21.21 NA Name=FOSL1_(SC-183) Name=7 NA rs1077802 0.41 0.41 0.43 0.453474 0.341 0.2252 0.2421 0.8654 0.3978 0.35 0.2 0.26 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228596 NA NA NA NA NA 0.471 NA 5.659 1086 4 144833153 144833153 C G intergenic GYPE,GYPB dist=6437;dist=84104 NA NA ncRNA_exonic ENSG00000249741 NA NA NA Score=690;Name=lod=849 NA 4q31.21 NA NA Name=50 NA rs74590858 0.16 0.16 0.106 0.191893 0.341 0.0417 0.33 0.034 0.3088 0.26 0.04 0.31 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816921 NA NA NA NA NA NA NA 5.659 1086 4 144833154 144833154 T G intergenic GYPE,GYPB dist=6438;dist=84103 NA NA ncRNA_exonic ENSG00000249741 NA NA NA Score=690;Name=lod=849 NA 4q31.21 NA NA Name=50 NA rs78713560 0.16 0.16 0.111 0.191893 0.341 0.0417 0.33 0.034 0.3088 0.26 0.04 0.31 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90394 NA NA NA NA NA NA NA 5.659 1086 6 29912410 29912410 G A intronic HLA-A NA NA NA exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376806:exon5:c.G1029A:p.K343K NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs41551619 NA NA NA 0.102636 0.0606 0.2629 0.0418 0.0008 0.1616 NA NA NA NA 0.1138 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676617 NA NA NA NA NA 0.094 NA 5.6589333 1086 19 13008607 13008607 G T exonic GCDH NA synonymous SNV GCDH:NM_000159:exon11:c.G1173T:p.G391G,GCDH:NM_013976:exon11:c.G1173T:p.G391G exonic ENSG00000105607 NA synonymous SNV ENSG00000105607:ENST00000591470:exon10:c.G1173T:p.G391G,ENSG00000105607:ENST00000222214:exon11:c.G1173T:p.G391G,ENSG00000105607:ENST00000422947:exon11:c.G1041T:p.G347G,ENSG00000105607:ENST00000457854:exon11:c.G1173T:p.G391G NA NA 19p13.2 NA NA NA NA rs1060218 0.25 0.25 0.218 0.250399 0.325 0.1438 0.4308 0.171 0.2628 0.31 0.13 0.42 0.16 0.3245 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018923 NA NA 0.358256 0.207217 NA 0.246 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078250.1;CLNDSDB=.;CLNDSDBID=. 5.6589106 1086 17 78599655 78599655 G T intronic RPTOR NA NA NA intronic ENSG00000141564 NA NA NA NA NA 17q25.3 NA Name=Pbx3 Name=16 NA rs901065 0.35 0.35 0.332 0.321286 0.3419 0.2669 0.2824 0.4463 0.2147 0.34 0.28 0.3 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294294 NA NA NA NA NA 0.297 NA 5.6581 1086 19 7917919 7917919 C T intronic EVI5L NA NA NA intronic ENSG00000142459 NA NA NA NA NA 19p13.2 NA Name=CTCFL_(SC-98982),CTCF,CTCF_(C-20) Name=4 NA rs12975442 0.37 0.37 0.33 0.429313 0.3429 0.4732 0.4971 0.2156 0.7137 0.35 0.5 0.46 0.18 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196206 NA NA NA NA NA 0.348 NA 5.6571 1086 13 25283494 25283494 C T intronic ATP12A NA NA NA intronic ENSG00000075673 NA NA NA NA NA 13q12.12 NA Name=EBF1_(C-8) Name=11 NA rs895423 0.09 0.09 0.071 0.103834 0.1183 0.126 0.0663 0.0424 0.1759 0.12 0.13 0.08 0.03 0.1101 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308956 NA NA 0.114535 0.04857 NA 0.167 NA 5.657065 1086 3 195507993 195507993 G A exonic MUC4 NA synonymous SNV MUC4:NM_018406:exon2:c.C10458T:p.T3486T exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000463781:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000466475:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000470451:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000475231:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000477086:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000477756:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000478156:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000479406:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000480843:exon2:c.C10458T:p.T3486T NA NA 3q29 NA NA NA NA rs201179949 NA NA NA 0.00179712 0.006 NA 0.0029 NA 0.001 NA NA NA NA 0.0038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60326 NA NA NA NA NA NA NA 5.6568666 1086 12 130898844 130898844 G A exonic RIMBP2 NA synonymous SNV RIMBP2:NM_015347:exon14:c.C2478T:p.Y826Y exonic ENSG00000060709 NA synonymous SNV ENSG00000060709:ENST00000261655:exon14:c.C2478T:p.Y826Y NA NA 12q24.33 NA NA NA NA rs117753238 0.0027 0.0027 0 0.00219649 0.005 NA 0.0043 0.0023 NA 0.01 NA 0.01 NA 0.0025 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.252501 NA NA 0.002326 0.002043 NA NA NA 5.6568406 1086 7 93544357 93544357 G A intergenic GNGT1,GNG11 dist=3872;dist=6659 NA NA intergenic ENSG00000127928,ENSG00000127920 dist=3780;dist=6654 NA NA Score=573;Name=lod=283 NA 7q21.3 NA Name=CEBPB,p300,AP-2gamma,p300_(N-15),JunD,c-Fos Name=109 NA rs180259 0.64 0.64 0.642 0.608027 0.6769 0.7401 0.6254 0.4622 0.5859 0.67 0.77 0.64 0.46 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.133354 NA NA NA NA NA 0.725 NA 5.6564334 1086 17 73269676 73269676 C T exonic SLC25A19 NA synonymous SNV SLC25A19:NM_001126122:exon7:c.G819A:p.L273L,SLC25A19:NM_001126121:exon8:c.G819A:p.L273L,SLC25A19:NM_021734:exon8:c.G819A:p.L273L exonic ENSG00000125454 NA synonymous SNV ENSG00000125454:ENST00000375261:exon5:c.G648A:p.L216L,ENSG00000125454:ENST00000402418:exon6:c.G819A:p.L273L,ENSG00000125454:ENST00000583332:exon6:c.G504A:p.L168L,ENSG00000125454:ENST00000442286:exon7:c.G819A:p.L273L,ENSG00000125454:ENST00000416858:exon8:c.G819A:p.L273L,ENSG00000125454:ENST00000580994:exon8:c.G819A:p.L273L,ENSG00000125454:ENST00000320362:exon9:c.G819A:p.L273L NA NA 17q25.1 Score=896;Name=V$E47_02 NA NA NA rs4789164 0.59 0.59 0.534 0.530152 0.6809 0.8264 0.67 0.0454 0.6258 0.7 0.89 0.63 0.05 0.6517 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288753 NA NA 0.677791 0.162052 NA 0.543 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118371.2;CLNDSDB=.;CLNDSDBID=. 5.6562756 1086 1 204966170 204966170 T C intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA Score=304;Name=lod=23 NA 1q32.1 NA NA Name=4 NA rs16854920 0.28 0.28 0.26 0.284345 0.3439 0.3105 0.353 0.1286 0.3579 0.35 0.26 0.38 0.13 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146865 NA NA NA NA NA 0.319 NA 5.6561 1086 9 136913355 136913355 T C exonic BRD3 NA synonymous SNV BRD3:NM_007371:exon6:c.A936G:p.L312L exonic ENSG00000169925 NA synonymous SNV ENSG00000169925:ENST00000303407:exon6:c.A936G:p.L312L,ENSG00000169925:ENST00000357885:exon6:c.A936G:p.L312L,ENSG00000169925:ENST00000371834:exon6:c.A936G:p.L312L Score=634;Name=lod=501 NA 9q34.2 Score=896;Name=V$E47_02 NA NA NA rs464826 0.68 0.68 0.715 0.72504 0.6759 0.6845 0.5418 0.8691 0.7526 0.68 0.66 0.55 0.8 0.6835 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.259698 1.259698 NA 0.651395 0.817666 NA 0.681 NA 5.6558716 1086 11 840477 840477 A G exonic POLR2L NA synonymous SNV POLR2L:NM_021128:exon2:c.T99C:p.D33D exonic ENSG00000177700 NA synonymous SNV ENSG00000177700:ENST00000322028:exon2:c.T99C:p.D33D,ENSG00000177700:ENST00000534030:exon2:c.T99C:p.D33D NA NA 11p15.5 NA Name=Pol2 Name=39 NA rs4895 0.71 0.71 0.66 0.642173 0.663 0.8552 0.7925 0.5318 0.4438 0.67 0.89 0.78 0.52 0.6703 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496656 NA NA 0.677524 0.54857 NA 0.558 NA 5.6558426 1086 9 136337164 136337164 C G exonic SLC2A6 NA synonymous SNV SLC2A6:NM_001145099:exon9:c.G1317C:p.G439G,SLC2A6:NM_017585:exon10:c.G1503C:p.G501G exonic ENSG00000160326 NA synonymous SNV ENSG00000160326:ENST00000371897:exon9:c.G1317C:p.G439G,ENSG00000160326:ENST00000371899:exon10:c.G1503C:p.G501G NA NA 9q34.2 NA NA NA NA rs142001028 NA NA NA 0.000798722 0.003 NA 0.0014 NA NA NA NA NA NA 0.0025 0.0053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.425845 NA NA 0.005349 0.001135 NA NA NA 5.6558176 1086 4 143324094 143324094 G A exonic INPP4B NA synonymous SNV INPP4B:NM_001101669:exon7:c.C369T:p.D123D,INPP4B:NM_003866:exon8:c.C369T:p.D123D exonic ENSG00000109452 NA synonymous SNV ENSG00000109452:ENST00000506297:exon1:c.C69T:p.D23D,ENSG00000109452:ENST00000308502:exon4:c.C369T:p.D123D,ENSG00000109452:ENST00000506217:exon4:c.C369T:p.D123D,ENSG00000109452:ENST00000262992:exon5:c.C369T:p.D123D,ENSG00000109452:ENST00000508116:exon6:c.C369T:p.D123D,ENSG00000109452:ENST00000510812:exon6:c.C369T:p.D123D,ENSG00000109452:ENST00000512630:exon6:c.C369T:p.D123D,ENSG00000109452:ENST00000509777:exon7:c.C369T:p.D123D,ENSG00000109452:ENST00000513000:exon8:c.C369T:p.D123D Score=644;Name=lod=554 NA 4q31.21 NA NA NA NA rs1982966 0.25 0.25 0.224 0.252596 0.3489 0.2907 0.2378 0.0318 0.4233 0.38 0.28 0.25 0.03 0.3155 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762261 NA NA 0.346512 0.084884 ID=COSM149743;OCCURENCE=1(stomach) 0.275 NA 5.6557546 1086 17 48243461 48243461 G A intronic SGCA NA NA NA exonic ENSG00000108823 NA synonymous SNV ENSG00000108823:ENST00000514934:exon1:c.G60A:p.A20A NA NA 17q21.33 NA NA Name=4 NA rs79410682 0.03 0.03 0.029 0.0283546 0.0606 NA 0.0245 0.0061 0.0573 0.06 NA 0.02 0.01 0.0544 0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373021 NA NA 0.062674 0.01271 NA 0.058 NA 5.6556593 1086 19 8398121 8398121 G A intronic KANK3 NA NA NA intronic ENSG00000186994 NA NA NA NA NA 19p13.2 NA Name=USF-1 Name=4 NA rs7248298 0.12 0.12 0.115 0.129792 0.1153 0.0327 0.1239 0.2413 0.0982 0.11 0.03 0.14 0.23 0.1254 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12534 NA NA 0.103981 0.195155 NA 0.13 NA 5.655319 1086 14 23341666 23341666 G C intronic LRP10 NA NA NA intronic ENSG00000197324 NA NA NA NA NA 14q11.2 NA Name=Ini1,STAT1,Pol2 Name=34 NA rs8011536 0.25 0.25 0.246 0.246206 0.3449 0.0536 0.2536 0.3215 0.2362 0.35 0.06 0.28 0.3 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185258 NA NA NA NA NA 0.203 NA 5.6551 1086 14 96772075 96772075 G A exonic ATG2B NA synonymous SNV ATG2B:NM_018036:exon31:c.C4584T:p.P1528P exonic ENSG00000066739 NA synonymous SNV ENSG00000066739:ENST00000359933:exon31:c.C4584T:p.P1528P NA NA 14q32.2 NA NA NA NA rs146028674 0.0023 0.0023 NA 0.00199681 0.006 NA 0.0058 NA NA 0.004 NA 0.01 NA 0.0022 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060957 NA NA 0.003372 0.001589 NA NA NA 5.6550946 1086 9 20414298 20414298 A G exonic MLLT3 NA synonymous SNV MLLT3:NM_004529:exon5:c.T546C:p.S182S exonic ENSG00000171843 NA synonymous SNV ENSG00000171843:ENST00000380338:exon5:c.T546C:p.S182S,ENSG00000171843:ENST00000429426:exon5:c.T537C:p.S179S NA NA 9p21.3 NA NA NA NA rs143254940 NA NA NA 0.00139776 0.005 NA 0.0014 0.0008 NA NA NA NA NA 0.0027 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504768 NA NA 0.003954 0.001135 ID=COSM1569325;OCCURENCE=1(large_intestine) NA NA 5.6550126 1087 21 47664746 47664746 C T exonic MCM3AP NA synonymous SNV MCM3AP:NM_003906:exon23:c.G5013A:p.P1671P exonic ENSG00000160294 NA synonymous SNV ENSG00000160294:ENST00000291688:exon23:c.G5013A:p.P1671P,ENSG00000160294:ENST00000397708:exon24:c.G5013A:p.P1671P NA NA 21q22.3 NA NA NA NA rs17183255 0.0014 0.0014 0.002 0.000998403 0.005 NA NA NA NA 0.004 NA NA NA 0.0023 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475805 NA NA 0.004535 0.001362 NA NA NA 5.6548316 1087 16 28619920 28619920 A G exonic SULT1A1 NA synonymous SNV SULT1A1:NM_177534:exon2:c.T153C:p.T51T,SULT1A1:NM_001055:exon3:c.T153C:p.T51T,SULT1A1:NM_177529:exon3:c.T153C:p.T51T,SULT1A1:NM_177530:exon3:c.T153C:p.T51T exonic ENSG00000196502 NA synonymous SNV ENSG00000196502:ENST00000569554:exon2:c.T153C:p.T51T,ENSG00000196502:ENST00000314752:exon3:c.T153C:p.T51T,ENSG00000196502:ENST00000395607:exon3:c.T153C:p.T51T,ENSG00000196502:ENST00000566189:exon3:c.T153C:p.T51T,ENSG00000196502:ENST00000395609:exon5:c.T153C:p.T51T Score=425;Name=lod=71 NA 16p11.2 NA NA NA NA rs1126446 0.21 0.21 0.099 0.290735 0.335 0.2669 0.4769 0.2292 0.2209 0.25 0.17 0.29 0.13 0.3516 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202313 NA NA 0.325349 0.194811 ID=COSM148064;OCCURENCE=1(stomach) 0.167 NA 5.6547176 1087 11 2424727 2424727 C T exonic TSSC4 NA synonymous SNV TSSC4:NM_005706:exon2:c.C864T:p.V288V exonic ENSG00000184281 NA synonymous SNV ENSG00000184281:ENST00000451491:exon2:c.C864T:p.V288V,ENSG00000184281:ENST00000333256:exon3:c.C864T:p.V288V,ENSG00000184281:ENST00000380996:exon4:c.C672T:p.V224V NA NA 11p15.5 NA NA NA NA rs2234285 0.02 0.02 0.027 0.0295527 0.002 NA 0.0101 0.1051 NA NA NA 0.01 0.09 0.0094 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184055 NA NA 0.000582 0.084433 ID=COSM428849;OCCURENCE=1(breast) 0.029 NA 5.6546846 1087 16 20996525 20996525 G A exonic DNAH3 NA synonymous SNV DNAH3:NM_017539:exon48:c.C7539T:p.D2513D exonic ENSG00000158486 NA synonymous SNV ENSG00000158486:ENST00000261383:exon48:c.C7539T:p.D2513D NA NA 16p12.3 NA NA NA NA rs139502385 0.0032 0.0032 0.004 0.00159744 0.005 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0029 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247373 NA NA 0.004419 0.001817 ID=COSM434832,COSM434831;OCCURENCE=1(breast) NA NA 5.6543476 1087 5 133901934 133901934 C T exonic PHF15 NA synonymous SNV PHF15:NM_015288:exon9:c.C1098T:p.D366D exonic ENSG00000043143 NA synonymous SNV ENSG00000043143:ENST00000282605:exon9:c.C1098T:p.D366D,ENSG00000043143:ENST00000361895:exon9:c.C1098T:p.D366D,ENSG00000043143:ENST00000395003:exon9:c.C1098T:p.D366D,ENSG00000043143:ENST00000402835:exon9:c.C1098T:p.D366D NA NA 5q31.1 NA NA NA NA rs148155246 0.0018 0.0018 NA 0.000798722 0.004 NA NA NA NA 0.01 NA NA NA 0.0046 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824129 NA NA 0.003721 0.000454 NA NA NA 5.6543456 1087 16 28898793 28898793 T C exonic ATP2A1 NA synonymous SNV ATP2A1:NM_004320:exon8:c.T678C:p.T226T,ATP2A1:NM_173201:exon8:c.T678C:p.T226T exonic ENSG00000196296 NA synonymous SNV ENSG00000196296:ENST00000536376:exon6:c.T303C:p.T101T,ENSG00000196296:ENST00000357084:exon8:c.T678C:p.T226T,ENSG00000196296:ENST00000395503:exon8:c.T678C:p.T226T NA NA 16p11.2 NA NA NA NA rs6565259 0.33 0.33 0.286 0.338858 0.3131 0.1617 0.4942 0.5189 0.1943 0.32 0.17 0.4 0.48 0.3482 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.967344 NA NA 0.351163 0.506372 NA 0.326 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082700.1;CLNDSDB=.;CLNDSDBID=. 5.6542036 1087 16 85720945 85720945 C T intronic GINS2 NA NA NA intronic ENSG00000131153 NA NA NA NA NA 16q24.1 NA Name=Egr-1,ZNF263,Sin3Ak-20,c-Myc Name=19 NA rs3815796 0.37 0.37 0.358 0.405152 0.3459 0.4683 0.3818 0.3555 0.4847 0.36 0.45 0.35 0.3 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475445 NA NA NA NA NA 0.341 NA 5.6541 1087 2 43804229 43804229 T C exonic THADA NA synonymous SNV THADA:NM_001083953:exon10:c.A969G:p.G323G,THADA:NM_001271643:exon10:c.A969G:p.G323G,THADA:NM_001271644:exon10:c.A969G:p.G323G,THADA:NM_022065:exon10:c.A969G:p.G323G exonic ENSG00000115970 NA synonymous SNV ENSG00000115970:ENST00000330266:exon1:c.A99G:p.G33G,ENSG00000115970:ENST00000402360:exon9:c.A969G:p.G323G,ENSG00000115970:ENST00000474159:exon9:c.A969G:p.G323G,ENSG00000115970:ENST00000404790:exon10:c.A969G:p.G323G,ENSG00000115970:ENST00000405006:exon10:c.A969G:p.G323G,ENSG00000115970:ENST00000405975:exon10:c.A969G:p.G323G,ENSG00000115970:ENST00000415080:exon10:c.A99G:p.G33G,ENSG00000115970:ENST00000403856:exon11:c.A969G:p.G323G Score=475;Name=lod=114 NA 2p21 NA NA NA NA rs13021894 0.35 0.35 0.363 0.377396 0.341 0.2659 0.245 0.5136 0.4397 0.34 0.29 0.28 0.49 0.3321 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487808 NA NA 0.339491 0.460466 NA 0.362 NA 5.6540756 1087 1 247835885 247835885 G C exonic OR13G1 NA synonymous SNV OR13G1:NM_001005487:exon1:c.C459G:p.S153S exonic ENSG00000197437 NA synonymous SNV ENSG00000197437:ENST00000359688:exon1:c.C459G:p.S153S NA NA 1q44 NA NA NA NA rs150242376 0.0009 0.0009 NA 0.000798722 0.004 NA NA NA NA 0.0026 NA NA NA 0.0036 0.0052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10829 NA NA 0.005233 0.000681 NA NA NA 5.6538336 1087 10 48370595 48370595 G A exonic ZNF488 NA synonymous SNV ZNF488:NM_153034:exon2:c.G63A:p.G21G exonic ENSG00000165388 NA synonymous SNV ENSG00000165388:ENST00000395702:exon2:c.G63A:p.G21G,ENSG00000165388:ENST00000425196:exon2:c.G63A:p.G21G,ENSG00000165388:ENST00000444585:exon2:c.G63A:p.G21G,ENSG00000165388:ENST00000494156:exon2:c.G63A:p.G21G,ENSG00000165388:ENST00000412534:exon3:c.G63A:p.G21G,ENSG00000165388:ENST00000433077:exon3:c.G63A:p.G21G,ENSG00000165388:ENST00000436850:exon3:c.G63A:p.G21G,ENSG00000165388:ENST00000442001:exon3:c.G63A:p.G21G NA NA 10q11.22 NA NA Name=2 NA rs11204210 0.36 0.36 0.328 0.366813 0.329 0.4812 0.2421 0.3396 0.4131 0.34 0.49 0.27 0.3 0.3496 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014417 NA NA 0.334574 0.343324 ID=COSM427587;OCCURENCE=2(breast) 0.319 NA 5.6534926 1087 12 51089734 51089734 T A exonic DIP2B NA synonymous SNV DIP2B:NM_173602:exon16:c.T1917A:p.T639T exonic ENSG00000066084 NA synonymous SNV ENSG00000066084:ENST00000301180:exon16:c.T1917A:p.T639T Score=546;Name=lod=221 NA 12q13.12 NA NA NA NA rs11169524 0.32 0.32 0.329 0.320687 0.3449 0.256 0.2752 0.3298 0.3824 0.33 0.31 0.27 0.35 0.3183 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.256133 1.256133 NA 0.35 0.32138 NA 0.297 NA 5.6534666 1087 3 54157710 54157710 A T intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA Score=378;Name=lod=46 NA 3p21.1 NA NA Name=5 NA rs2290132 0.27 0.27 0.26 0.25619 0.3469 0.1895 0.304 0.208 0.2628 0.37 0.17 0.27 0.23 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.359363 3.359363 NA NA NA NA 0.297 NA 5.6531 1087 5 32093082 32093082 G T exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon20:c.G7797T:p.S2599S exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon20:c.G7797T:p.S2599S,ENSG00000133401:ENST00000438447:exon21:c.G7797T:p.S2599S NA NA 5p13.3 NA NA NA NA rs149447762 0.0023 0.0023 NA 0.00199681 0.005 NA 0.0043 0.0008 0.001 0.0026 NA 0.01 0.002 0.0037 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.186449 NA NA 0.005465 0.001362 NA NA NA 5.6525016 1087 19 37004938 37004938 T C exonic ZNF260 NA synonymous SNV ZNF260:NM_001166037:exon3:c.A1203G:p.S401S,ZNF260:NM_001166038:exon3:c.A1203G:p.S401S,ZNF260:NM_001012756:exon4:c.A1203G:p.S401S,ZNF260:NM_001166036:exon4:c.A1203G:p.S401S exonic ENSG00000254004 NA synonymous SNV ENSG00000254004:ENST00000593142:exon2:c.A1203G:p.S401S,ENSG00000254004:ENST00000523638:exon3:c.A1203G:p.S401S,ENSG00000254004:ENST00000588993:exon3:c.A1203G:p.S401S,ENSG00000254004:ENST00000592282:exon4:c.A1203G:p.S401S NA NA 19q13.12 NA Name=SETDB1,ZNF274,KAP1 NA NA rs2967505 0.33 0.33 0.346 0.345048 0.3479 0.245 0.2478 0.4153 0.4192 0.33 0.23 0.28 0.48 0.3264 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513688 NA NA 0.340233 0.41557 NA 0.268 NA 5.6521336 1087 10 100148058 100148058 T C intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA Name=CTCF Name=9 NA rs4539242 0.55 0.55 0.531 0.599441 0.3479 0.5833 0.5403 0.8752 0.544 0.35 0.59 0.5 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073279 NA NA NA NA NA 0.464 NA 5.6521 1087 19 900516 900516 C T intronic R3HDM4 NA NA NA intronic ENSG00000198858 NA NA NA NA NA 19p13.3 NA Name=Egr-1 Name=29 NA rs3102829 0.35 0.35 0.335 0.376797 0.3479 0.2202 0.4409 0.4728 0.3926 0.34 0.22 0.44 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784933 NA NA NA NA NA 0.348 NA 5.6521 1087 3 129823057 129823057 C T ncRNA_exonic FAM86HP NA NA NA ncRNA_exonic ENSG00000253540 NA NA NA Score=468;Name=lod=106 NA 3q22.1 NA NA NA NA rs113156717 NA NA 0.007 0.00399361 0.0149 NA 0.0029 NA 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253316 NA 0 NA NA NA NA NA 5.6517666 1087 12 100561360 100561360 C T ncRNA_exonic GOLGA2P5 NA NA NA ncRNA_exonic ENSG00000238105 NA NA NA Score=381;Name=lod=47 NA 12q23.1 NA NA NA NA rs147182760 0.01 0.01 0.01 0.00439297 0.0149 NA 0.0058 NA 0.0031 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073557 NA NA NA NA NA 0.007 NA 5.6517666 1087 4 123377482 123377482 C A exonic IL2 NA synonymous SNV IL2:NM_000586:exon1:c.G114T:p.L38L exonic ENSG00000109471 NA synonymous SNV ENSG00000109471:ENST00000226730:exon1:c.G114T:p.L38L NA NA 4q27 NA NA Name=2 NA rs2069763 0.34 0.34 0.316 0.298722 0.3449 0.4613 0.4366 0.0772 0.2853 0.35 0.51 0.41 0.09 0.3461 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719246 1.719246 NA 0.324535 0.126645 NA 0.326 NA 5.6511316 1087 1 200877786 200877786 T C intronic C1orf106 NA NA NA intronic ENSG00000163362 NA NA NA NA NA 1q32.1 NA Name=GATA3_(SC-268),c-Myc,p300 Name=7 NA rs2279837 0.25 0.25 0.189 0.225839 0.3489 0.1458 0.4193 0.0741 0.2495 0.36 0.15 0.38 0.08 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3358 NA NA NA NA NA 0.297 NA 5.6511 1087 5 176314639 176314639 G A exonic HK3 NA synonymous SNV HK3:NM_002115:exon11:c.C1413T:p.A471A exonic ENSG00000160883 NA synonymous SNV ENSG00000160883:ENST00000292432:exon11:c.C1413T:p.A471A NA NA 5q35.2 NA Name=CTCF_(SC-5916),Rad21,CTCF NA NA rs6875296 0.31 0.31 0.268 0.303115 0.326 0.3929 0.4294 0.0756 0.4049 0.33 0.38 0.45 0.07 0.3491 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.354981 NA NA 0.340661 0.126872 ID=COSM449368,COSM1486620;OCCURENCE=1(breast) 0.297 NA 5.6509056 1087 15 42167165 42167165 T C exonic SPTBN5 NA synonymous SNV SPTBN5:NM_016642:exon23:c.A4377G:p.K1459K exonic ENSG00000137877 NA synonymous SNV ENSG00000137877:ENST00000320955:exon23:c.A4377G:p.K1459K NA NA 15q15.1 NA NA NA NA rs111958620 0.0023 0.0023 NA 0.00259585 0.004 NA 0.0043 NA 0.0061 0.004 NA 0.01 NA 0.0059 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.231043 NA NA 0.005874 0.000493 NA 0.007 NA 5.6508926 1087 7 72985185 72985185 G A exonic TBL2 NA synonymous SNV TBL2:NM_012453:exon7:c.C996T:p.A332A exonic ENSG00000106638 NA synonymous SNV ENSG00000106638:ENST00000305632:exon7:c.C996T:p.A332A,ENSG00000106638:ENST00000432538:exon7:c.C888T:p.A296A NA NA 7q11.23 NA NA NA NA rs146437532 0.0046 0.0046 0.001 0.00279553 0.005 NA 0.013 NA NA 0.004 NA 0.02 NA 0.0047 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243823 NA NA 0.006164 0.001816 NA NA NA 5.6508026 1087 2 83084389 83084389 G A ncRNA_exonic LOC1720 NA NA NA ncRNA_exonic ENSG00000168129 NA NA NA Score=371;Name=lod=43 NA 2p12 NA NA NA NA rs35227268 0.01 0.01 0.006 0.00658946 0.0159 NA 0.0159 NA 0.0061 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466679 NA NA NA NA NA NA NA 5.6507666 1087 7 44282877 44282877 A G exonic CAMK2B NA synonymous SNV CAMK2B:NM_001220:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172078:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172079:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172080:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172081:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172082:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172083:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172084:exon8:c.T573C:p.Y191Y exonic ENSG00000058404 NA synonymous SNV ENSG00000058404:ENST00000502837:exon6:c.T186C:p.Y62Y,ENSG00000058404:ENST00000258682:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000346990:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000347193:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000350811:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000353185:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000353625:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000358707:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000395747:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000395749:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000440254:exon8:c.T573C:p.Y191Y,ENSG00000058404:ENST00000457475:exon8:c.T573C:p.Y191Y Score=423;Name=lod=70 NA 7p13 NA NA NA NA rs11542227 0.22 0.22 0.194 0.209864 0.3588 0.1131 0.2233 0.0976 0.2986 0.34 0.13 0.25 0.11 0.2987 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453553 1.453553 NA 0.358488 0.131185 NA 0.283 NA 5.6506786 1087 12 120650421 120650421 C T ncRNA_exonic PXN-AS1 NA NA NA ncRNA_exonic ENSG00000255857 NA NA NA NA NA 12q24.23 NA Name=Pol2-4H8,Pol2 NA NA rs79483820 0.03 0.03 0.035 0.0363419 NA 0.1071 0.0173 0.0045 0.0573 NA 0.11 0.01 0.0041 0.0146 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025363 NA NA 0.001558 0.002941 NA 0.022 NA 5.6505086 1087 17 73646780 73646780 G A exonic RECQL5 NA synonymous SNV RECQL5:NM_001003715:exon9:c.C1248T:p.H416H exonic ENSG00000108469 NA synonymous SNV ENSG00000108469:ENST00000340830:exon9:c.C1248T:p.H416H,ENSG00000108469:ENST00000584999:exon9:c.C1248T:p.H416H NA NA 17q25.1 NA NA NA NA rs57608326 0.02 0.02 0.03 0.0363419 NA NA 0.0173 0.1188 0.0133 NA NA 0.02 0.09 0.0153 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60939 NA NA 0.001047 0.121652 NA 0.043 NA 5.6503196 1087 10 98180613 98180613 A G intronic TLL2 NA NA NA intronic ENSG00000095587 NA NA NA NA NA 10q24.1 NA Name=p300 Name=6 NA rs3789951 0.3 0.3 0.303 0.287141 0.3499 0.252 0.2536 0.3177 0.2413 0.35 0.24 0.26 0.31 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089921 NA NA NA NA NA 0.37 NA 5.6501 1087 15 79750127 79750127 A G exonic KIAA1024 NA synonymous SNV KIAA1024:NM_015206:exon2:c.A1638G:p.G546G exonic ENSG00000169330 NA synonymous SNV ENSG00000169330:ENST00000559272:exon1:c.A1638G:p.G546G,ENSG00000169330:ENST00000305428:exon2:c.A1638G:p.G546G Score=399;Name=lod=56 NA 15q25.1 NA NA NA NA rs2902954 0.34 0.34 0.332 0.314696 0.3698 0.5704 0.304 0.0976 0.2955 0.36 0.58 0.26 0.1 0.3149 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623103 NA NA 0.332169 0.134107 ID=COSM434389;OCCURENCE=1(breast) 0.217 NA 5.6497976 1087 14 35409317 35409317 A G ncRNA_exonic IGBP1P1 NA NA NA ncRNA_exonic ENSG00000226677 NA NA NA Score=597;Name=lod=357 NA 14q13.2 NA NA NA NA rs141340336 0.01 0.01 0.003 0.0133786 0.0169 NA 0.0115 0.0008 0.0419 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481315 NA NA NA NA NA NA NA 5.6497666 1087 12 72666499 72666499 A G ncRNA_exonic TRHDE-AS1 NA NA NA ncRNA_UTR5 ENSG00000072657 NA NA NA Score=588;Name=lod=326 NA 12q21.1 NA Name=CTCF NA NA rs79761722 0.44 0.44 NA 0.839657 0.8171 0.9177 0.8545 0.7958 0.8313 0.43 0.51 0.44 0.38 0.1999 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432127 NA NA NA NA NA 0.058 NA 5.6496666 1087 19 51875732 51875732 G A exonic NKG7 NA synonymous SNV NKG7:NM_005601:exon1:c.C58T:p.L20L exonic ENSG00000105374 NA synonymous SNV ENSG00000105374:ENST00000221978:exon1:c.C58T:p.L20L,ENSG00000105374:ENST00000595217:exon1:c.C58T:p.L20L,ENSG00000105374:ENST00000600427:exon1:c.C58T:p.L20L NA NA 19q13.41 NA NA NA NA rs147628882 0.0037 0.0037 NA 0.00239617 0.008 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0039 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494658 NA NA 0.005116 0.001135 NA NA NA 5.6496506 1087 3 113377361 113377361 A G exonic KIAA2018 NA synonymous SNV KIAA2018:NM_001009899:exon7:c.T3168C:p.N1056N exonic ENSG00000176542 NA synonymous SNV ENSG00000176542:ENST00000478658:exon5:c.T3168C:p.N1056N,ENSG00000176542:ENST00000316407:exon7:c.T3168C:p.N1056N Score=295;Name=lod=21 NA 3q13.2 NA NA NA NA rs9813630 0.35 0.35 0.331 0.304313 0.3569 0.2183 0.2709 0.4387 0.181 0.39 0.23 0.28 0.47 0.3226 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.019422 NA NA 0.337933 0.39731 NA 0.203 NA 5.6492336 1087 21 35821849 35821849 C T exonic KCNE1 NA synonymous SNV KCNE1:NM_001127670:exon2:c.G84A:p.S28S,KCNE1:NM_001270404:exon2:c.G84A:p.S28S,KCNE1:NM_001127668:exon3:c.G84A:p.S28S,KCNE1:NM_001127669:exon3:c.G84A:p.S28S,KCNE1:NM_001270402:exon3:c.G84A:p.S28S,KCNE1:NM_001270403:exon3:c.G84A:p.S28S,KCNE1:NM_001270405:exon3:c.G84A:p.S28S,KCNE1:NM_000219:exon4:c.G84A:p.S28S exonic ENSG00000180509 NA synonymous SNV ENSG00000180509:ENST00000416357:exon2:c.G84A:p.S28S,ENSG00000180509:ENST00000337385:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000399284:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000399289:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000432085:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000399286:exon4:c.G84A:p.S28S NA NA 21q22.12 NA NA NA NA rs17173510 0.0041 0.0041 NA 0.00379393 0.0089 NA 0.0144 NA NA 0.01 NA 0.01 NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155574 NA NA 0.005581 0.001362 NA 0.007 NA 5.6485856 1087 5 37506547 37506547 A G intronic WDR70 NA NA NA ncRNA_exonic ENSG00000248216 NA NA NA Score=778;Name=lod=1935 NA 5p13.2 NA NA Name=4 NA rs56305849 0.57 0.57 0.572 0.564497 0.6849 0.5109 0.696 0.3328 0.7157 0.7 0.56 0.64 0.33 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.281705 2.281705 NA NA NA NA 0.529 NA 5.6484333 1087 9 139407932 139407932 A G exonic NOTCH1 NA synonymous SNV NOTCH1:NM_017617:exon14:c.T2265C:p.N755N exonic ENSG00000148400 NA synonymous SNV ENSG00000148400:ENST00000277541:exon14:c.T2265C:p.N755N Score=540;Name=lod=208 NA 9q34.3 NA NA NA NA rs2229971 0.56 0.56 0.536 0.527756 0.335 0.7768 0.4784 0.6997 0.272 0.33 0.78 0.46 0.7 0.3977 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.20382 NA NA 0.285831 0.615578 NA 0.478 NA 5.6481356 1087 8 42323380 42323380 C T exonic SLC20A2 NA synonymous SNV SLC20A2:NM_001257180:exon3:c.G345A:p.T115T,SLC20A2:NM_001257181:exon3:c.G345A:p.T115T,SLC20A2:NM_006749:exon3:c.G345A:p.T115T exonic ENSG00000168575 NA synonymous SNV ENSG00000168575:ENST00000342228:exon3:c.G345A:p.T115T,ENSG00000168575:ENST00000520179:exon3:c.G345A:p.T115T,ENSG00000168575:ENST00000520262:exon3:c.G345A:p.T115T NA NA 8p11.21 NA NA NA NA rs34124953 0.0014 0.0014 NA 0.00519169 0.004 NA NA NA 0.0225 0.004 NA NA NA 0.007 0.0077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033093 NA NA 0.007674 0.000227 NA NA NA 5.6479926 1087 15 37109884 37109884 G A ncRNA_intronic CSNK1A1P1 NA NA NA ncRNA_exonic ENSG00000223518 NA NA NA Score=775;Name=lod=1884 NA 15q14 NA NA NA NA rs138134049 0.01 0.01 0.007 0.00599042 0.0189 NA 0.013 NA 0.002 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.870072 2.870072 NA NA NA NA 0.014 NA 5.6477666 1087 17 14005439 14005439 G A exonic COX10 NA synonymous SNV COX10:NM_001303:exon4:c.G504A:p.L168L exonic ENSG00000006695 NA stopgain ENSG00000006695:ENST00000580561:exon3:c.G182A:p.W61X NA NA 17p12 NA NA Name=19 NA rs2159132 0.49 0.49 0.499 0.491813 0.5855 0.3462 0.4813 0.5053 0.5348 0.57 0.38 0.51 0.5 0.5223 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483223 NA NA 0.578488 0.510667 NA 0.58 NA 5.6470453 1087 17 4918122 4918122 A G exonic KIF1C NA synonymous SNV KIF1C:NM_006612:exon18:c.A1656G:p.P552P exonic ENSG00000129250 NA synonymous SNV ENSG00000129250:ENST00000320785:exon18:c.A1656G:p.P552P NA NA 17p13.2 NA NA NA NA rs57144955 0.02 0.02 0.024 0.0339457 0.001 NA 0.0101 0.1225 NA 0.0013 NA 0.01 0.1 0.0183 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789383 NA NA 0.000465 0.103041 NA 0.065 NA 5.6469016 1087 19 7809079 7809079 T C exonic CD209 NA synonymous SNV CD209:NM_001144893:exon4:c.A519G:p.R173R,CD209:NM_001144894:exon4:c.A795G:p.R265R,CD209:NM_001144896:exon5:c.A855G:p.R285R,CD209:NM_001144895:exon6:c.A651G:p.R217R,CD209:NM_001144897:exon6:c.A909G:p.R303R,CD209:NM_001144899:exon6:c.A444G:p.R148R,CD209:NM_021155:exon6:c.A927G:p.R309R exonic ENSG00000090659 NA synonymous SNV ENSG00000090659:ENST00000204801:exon4:c.A795G:p.R265R,ENSG00000090659:ENST00000593660:exon4:c.A717G:p.R239R,ENSG00000090659:ENST00000593821:exon4:c.A519G:p.R173R,ENSG00000090659:ENST00000601951:exon4:c.A855G:p.R285R,ENSG00000090659:ENST00000301357:exon5:c.A519G:p.R173R,ENSG00000090659:ENST00000315591:exon5:c.A855G:p.R285R,ENSG00000090659:ENST00000394161:exon5:c.A219G:p.R73R,ENSG00000090659:ENST00000315599:exon6:c.A927G:p.R309R,ENSG00000090659:ENST00000354397:exon6:c.A909G:p.R303R,ENSG00000090659:ENST00000394173:exon6:c.A444G:p.R148R,ENSG00000090659:ENST00000602261:exon6:c.A651G:p.R217R NA NA 19p13.2 NA NA NA NA rs17159887 0.03 0.03 0.032 0.0359425 0.003 NA 0.0101 0.1286 NA NA NA 0.01 0.12 0.0137 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323748 NA NA 0.003721 0.110758 NA 0.051 NA 5.6462456 1087 5 159992754 159992754 T G exonic ATP10B NA synonymous SNV ATP10B:NM_025153:exon26:c.A4092C:p.P1364P exonic ENSG00000118322 NA synonymous SNV ENSG00000118322:ENST00000327245:exon26:c.A4092C:p.P1364P NA NA 5q34 NA Name=ZNF263 NA NA rs3812006 0.37 0.37 0.36 0.394768 0.33 0.1706 0.4467 0.615 0.3579 0.32 0.2 0.42 0.59 0.3588 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276302 NA NA 0.331683 0.534144 NA 0.435 NA 5.6461836 1087 4 25398292 25398292 G A exonic ANAPC4 NA synonymous SNV ANAPC4:NM_013367:exon15:c.G1068A:p.S356S exonic ENSG00000053900 NA synonymous SNV ENSG00000053900:ENST00000315368:exon15:c.G1068A:p.S356S,ENSG00000053900:ENST00000510092:exon15:c.G1068A:p.S356S NA NA 4p15.2 NA NA NA NA rs34015658 0.03 0.03 0.046 0.0443291 0.005 0.001 0.0173 0.1543 NA 0.0013 NA 0.01 0.14 0.015 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101766 NA NA 0.001163 0.113255 NA 0.014 NA 5.6455036 1087 3 4856285 4856285 G A intronic ITPR1 NA NA NA intronic ENSG00000150995,ENSG00000235978 NA NA NA NA NA 3p26.1 NA Name=GTF2B,eGFP-FOS,ELF1_(SC-631),c-Myc,CCNT2,STAT1,ZNF263,HDAC2_(SC-6296),c-Fos,c-Jun,Pol2,SIRT6,p300_(F-4),eGFP-JunB Name=52 NA rs76604555 0.08 0.08 0.093 0.104433 0.1143 0.0377 0.1138 0.0756 0.1953 0.11 0.05 0.1 0.06 0.1228 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.424107 3.424107 NA 0.117504 0.075813 NA 0.08 NA 5.645396 1087 19 43433676 43433676 G C exonic PSG7 NA nonsynonymous SNV PSG7:NM_001206650:exon2:c.C261G:p.N87K exonic ENSG00000221878 NA unknown UNKNOWN NA NA 19q13.31 NA NA NA NA rs146569565 0.0041 0.0041 0.002 0.00439297 0.008 0.0079 0.0043 NA 0.0031 0.01 0.0035 0.01 NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.180333 NA NA 0.007444 0.00159 NA NA NA 5.6453227 1087 8 24300041 24300041 T C exonic ADAM7 NA synonymous SNV ADAM7:NM_003817:exon2:c.T108C:p.P36P exonic ENSG00000069206 NA synonymous SNV ENSG00000069206:ENST00000175238:exon2:c.T108C:p.P36P,ENSG00000069206:ENST00000380789:exon2:c.T108C:p.P36P,ENSG00000069206:ENST00000441335:exon2:c.T108C:p.P36P NA NA 8p21.2 NA NA NA NA rs35180468 0.0037 0.0037 0.004 0.0127796 0.007 0.001 0.0043 0.0023 0.0511 0.01 NA NA 0.0041 0.0093 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97618 NA NA 0.005116 0.000908 NA 0.007 NA 5.6452506 1088 5 446446 446446 C T exonic EXOC3 NA synonymous SNV EXOC3:NM_007277:exon2:c.C126T:p.S42S exonic ENSG00000180104 NA synonymous SNV ENSG00000180104:ENST00000315013:exon1:c.C126T:p.S42S,ENSG00000180104:ENST00000512944:exon2:c.C126T:p.S42S,ENSG00000180104:ENST00000515601:exon2:c.C126T:p.S42S,ENSG00000180104:ENST00000508022:exon3:c.C126T:p.S42S NA NA 5p15.33 NA NA NA NA rs115207857 0.01 0.01 0.015 0.0179712 0.005 NA 0.0029 0.0507 0.0164 0.01 NA 0.0028 0.04 0.0096 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446416 NA NA 0.007071 0.03983 NA 0.029 NA 5.6449956 1088 5 76708987 76708987 A G exonic PDE8B NA synonymous SNV PDE8B:NM_001029851:exon14:c.A1473G:p.E491E,PDE8B:NM_001029852:exon16:c.A1599G:p.E533E,PDE8B:NM_001029853:exon16:c.A1704G:p.E568E,PDE8B:NM_001029854:exon16:c.A1623G:p.E541E,PDE8B:NM_003719:exon17:c.A1764G:p.E588E exonic ENSG00000113231 NA synonymous SNV ENSG00000113231:ENST00000505283:exon4:c.A159G:p.E53E,ENSG00000113231:ENST00000346042:exon14:c.A1473G:p.E491E,ENSG00000113231:ENST00000333194:exon16:c.A1599G:p.E533E,ENSG00000113231:ENST00000340978:exon16:c.A1623G:p.E541E,ENSG00000113231:ENST00000342343:exon16:c.A1704G:p.E568E,ENSG00000113231:ENST00000264917:exon17:c.A1764G:p.E588E Score=603;Name=lod=376 NA 5q13.3 Score=881;Name=V$OCT1_07 NA NA NA rs335614 0.74 0.74 0.738 0.765176 0.672 0.8175 0.7305 0.8154 0.7638 0.67 0.81 0.71 0.79 0.7031 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121063 NA NA 0.64686 0.789378 NA 0.79 NA 5.6447066 1088 1 212515613 212515613 C T exonic PPP2R5A NA synonymous SNV PPP2R5A:NM_001199756:exon4:c.C393T:p.F131F,PPP2R5A:NM_006243:exon4:c.C564T:p.F188F exonic ENSG00000066027 NA synonymous SNV ENSG00000066027:ENST00000261461:exon4:c.C564T:p.F188F,ENSG00000066027:ENST00000537030:exon4:c.C393T:p.F131F Score=668;Name=lod=692 NA 1q32.3 NA NA NA NA rs1774249 0.3 0.3 0.29 0.28155 0.34 0.2837 0.33 0.1853 0.3149 0.35 0.3 0.33 0.2 0.3279 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110841 NA NA 0.35407 0.212438 NA 0.217 NA 5.6446966 1088 10 26462790 26462790 G A exonic MYO3A NA synonymous SNV MYO3A:NM_017433:exon30:c.G3597A:p.E1199E exonic ENSG00000095777 NA synonymous SNV ENSG00000095777:ENST00000265944:exon30:c.G3597A:p.E1199E NA NA 10p12.1 NA NA NA NA rs3740232 0.32 0.32 0.328 0.329073 0.3429 0.3532 0.317 0.2262 0.4376 0.35 0.38 0.28 0.23 0.3445 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244117 NA NA 0.335349 0.250794 ID=COSM146911;OCCURENCE=1(stomach),1(large_intestine) 0.312 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039035.1;CLNDSDB=.;CLNDSDBID=. 5.6439176 1088 9 116356516 116356516 A G exonic RGS3 NA nonsynonymous SNV RGS3:NM_144489:exon1:c.A317G:p.Y106C exonic ENSG00000138835 NA nonsynonymous SNV ENSG00000138835:ENST00000462403:exon1:c.A317G:p.Y106C NA NA 9q32 NA Name=HEY1,FOSL2,Pol2(b),Pol2-4H8,CTCF,TAF1,NRSF,Pol2,TAF7_(SQ-8) NA NA rs12341266 0.94 0.94 0.934 0.956869 0.8817 1 0.9006 0.9909 0.9836 0.88 1 0.9 0.98 0.9258 1 1 T 0.0 B 0.0 B . . 1.000 P 0 N 0.29 T -0.927 T 0.000 T 0.011 -1.898 0.008 -1.2 0.025 0.365 0.510 -1.897697 NA 1 0.882182 0.975931 NA 0.92 NA 5.6436514 1088 11 120929151 120929151 C G exonic TBCEL NA synonymous SNV TBCEL:NM_001130047:exon6:c.C810G:p.T270T,TBCEL:NM_152715:exon6:c.C810G:p.T270T exonic ENSG00000154114 NA synonymous SNV ENSG00000154114:ENST00000422003:exon6:c.C810G:p.T270T,ENSG00000154114:ENST00000529397:exon6:c.C810G:p.T270T,ENSG00000154114:ENST00000533134:exon6:c.C111G:p.T37T NA NA 11q23.3 NA NA NA NA rs35380371 0.01 0.01 0.006 0.00938498 0.008 NA 0.0072 0.0212 0.0061 0.01 NA 0.01 0.02 0.0069 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969775 NA NA 0.00849 0.01793 NA 0.007 NA 5.6432766 1088 16 1584618 1584618 T C intronic IFT140,TMEM204 NA NA NA intronic ENSG00000131634,ENSG00000187535 NA NA NA NA NA 16p13.3 NA Name=CTCF,Max Name=42 NA rs2076438 0.51 0.51 0.489 0.529752 0.3569 0.5714 0.4323 0.7345 0.4571 0.36 0.56 0.43 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300444 NA NA NA NA NA 0.42 NA 5.6431 1088 6 31239335 31239335 G A intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 Score=795;Name=V$ER_Q6 Name=Pol2,Pol2-4H8,NFKB,CTCF NA NA rs17880655 0.22 0.22 0.129 0.200879 0.165 0.4444 0.2277 0.09 0.1176 0.17 0.41 0.2 0.08 0.1923 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435916 NA NA NA NA NA 0.029 NA 5.6427 1088 4 109745336 109745336 T G exonic COL25A1 NA synonymous SNV COL25A1:NM_001256074:exon32:c.A1848C:p.G616G,COL25A1:NM_032518:exon34:c.A1839C:p.G613G,COL25A1:NM_198721:exon34:c.A1839C:p.G613G exonic ENSG00000188517 NA synonymous SNV ENSG00000188517:ENST00000399127:exon33:c.A1848C:p.G616G,ENSG00000188517:ENST00000399126:exon35:c.A1839C:p.G613G,ENSG00000188517:ENST00000399132:exon35:c.A1839C:p.G613G Score=518;Name=lod=170 NA 4q25 NA NA NA NA rs7689008 0.35 0.35 0.339 0.310104 0.34 0.3502 0.2565 0.3404 0.2352 0.33 0.42 0.3 0.35 0.3279 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.619804 1.619804 NA 0.35613 0.34264 NA 0.362 NA 5.6426366 1088 15 90226947 90226947 C A exonic PEX11A NA synonymous SNV PEX11A:NM_001271572:exon3:c.G312T:p.L104L,PEX11A:NM_003847:exon3:c.G405T:p.L135L exonic ENSG00000166821 NA synonymous SNV ENSG00000166821:ENST00000300056:exon3:c.G405T:p.L135L,ENSG00000166821:ENST00000561257:exon3:c.G312T:p.L104L Score=562;Name=lod=256 NA 15q26.1 Score=757;Name=V$PPARA_01 NA NA NA rs7169981 0.52 0.52 0.532 0.505192 0.6958 0.2917 0.4914 0.5431 0.4877 0.7 0.3 0.54 0.48 0.6206 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.908342 NA NA 0.708304 0.582045 NA 0.572 NA 5.6419626 1088 19 41596133 41596133 A G intronic CYP2A13 NA NA NA intronic ENSG00000197838 NA NA NA NA NA 19q13.2 NA Name=CTCF_(SC-5916),CTCF Name=2 NA rs1645690 0.21 0.21 0.176 0.245807 0.1103 0.0823 0.2781 0.5136 0.1687 0.11 0.08 0.22 0.52 0.1532 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192851 NA NA 0.095255 0.444343 NA 0.232 NA 5.641245 1088 1 155007293 155007293 C T intronic DCST1 NA NA NA intronic ENSG00000163357 NA NA NA NA NA 1q22 NA Name=GR,CTCF Name=6 NA rs4845404 0.54 0.54 0.517 0.565895 0.3588 0.8819 0.5922 0.4266 0.6227 0.36 0.9 0.54 0.41 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289921 NA NA NA NA NA 0.464 NA 5.6412 1088 16 28619911 28619911 T C exonic SULT1A1 NA synonymous SNV SULT1A1:NM_177534:exon2:c.A162G:p.V54V,SULT1A1:NM_001055:exon3:c.A162G:p.V54V,SULT1A1:NM_177529:exon3:c.A162G:p.V54V,SULT1A1:NM_177530:exon3:c.A162G:p.V54V exonic ENSG00000196502 NA synonymous SNV ENSG00000196502:ENST00000569554:exon2:c.A162G:p.V54V,ENSG00000196502:ENST00000314752:exon3:c.A162G:p.V54V,ENSG00000196502:ENST00000395607:exon3:c.A162G:p.V54V,ENSG00000196502:ENST00000566189:exon3:c.A162G:p.V54V,ENSG00000196502:ENST00000395609:exon5:c.A162G:p.V54V Score=425;Name=lod=71 NA 16p11.2 NA NA NA NA rs1126447 0.24 0.24 0.119 0.290535 0.335 0.2669 0.4769 0.2284 0.2209 0.3 0.19 0.33 0.16 0.3523 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330308 NA NA 0.338256 0.200273 ID=COSM148063;OCCURENCE=1(stomach) 0.167 NA 5.6411106 1088 11 60152584 60152584 G A exonic MS4A7 NA synonymous SNV MS4A7:NM_021201:exon3:c.G171A:p.L57L,MS4A7:NM_206939:exon3:c.G171A:p.L57L exonic ENSG00000166927 NA synonymous SNV ENSG00000166927:ENST00000300184:exon3:c.G171A:p.L57L,ENSG00000166927:ENST00000530234:exon3:c.G171A:p.L57L Score=284;Name=lod=19 NA 11q12.2 NA NA NA NA rs950802 0.4 0.4 0.421 0.402756 0.339 0.4375 0.3646 0.4569 0.3865 0.34 0.44 0.4 0.45 0.3528 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337845 NA NA 0.333837 0.410803 NA 0.493 NA 5.6410296 1088 15 99670518 99670518 T C exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA synonymous SNV ENSG00000182253:ENST00000560674:exon4:c.T1095C:p.T365T,ENSG00000182253:ENST00000328642:exon5:c.T1950C:p.T650T,ENSG00000182253:ENST00000336292:exon5:c.T1950C:p.T650T NA NA 15q26.3 NA NA Name=27 NA rs1670227 0.25 0.25 0.275 0.273562 0.2147 0.0982 0.2579 0.5227 0.1892 0.22 0.08 0.24 0.51 0.245 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.770782 1.770782 NA 0.232978 0.454922 NA 0.21 NA 5.6406553 1088 19 53384185 53384185 C T exonic ZNF320 NA synonymous SNV ZNF320:NM_207333:exon4:c.G1194A:p.A398A exonic ENSG00000182986 NA synonymous SNV ENSG00000182986:ENST00000391781:exon3:c.G1194A:p.A398A,ENSG00000182986:ENST00000595635:exon8:c.G1194A:p.A398A NA Name=Alzheimer's disease 19q13.41 NA Name=ZNF274 NA NA rs6509701 0.57 0.57 0.569 0.586262 0.7068 0.3621 0.4712 0.6936 0.6299 0.69 0.34 0.51 0.67 0.6306 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050572 NA NA 0.688721 0.674762 NA 0.703 NA 5.6405456 1088 1 161641267 161641267 G A exonic FCGR2B NA synonymous SNV FCGR2B:NM_001190828:exon2:c.G198A:p.G66G,FCGR2B:NM_001002273:exon3:c.G216A:p.G72G,FCGR2B:NM_001002274:exon3:c.G219A:p.G73G,FCGR2B:NM_001002275:exon3:c.G216A:p.G72G,FCGR2B:NM_004001:exon3:c.G219A:p.G73G exonic ENSG00000072694 NA synonymous SNV ENSG00000072694:ENST00000367960:exon2:c.G198A:p.G66G,ENSG00000072694:ENST00000367961:exon2:c.G198A:p.G66G,ENSG00000072694:ENST00000236937:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000358671:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000367962:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000403078:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000428605:exon3:c.G219A:p.G73G NA NA 1q23.3 NA NA NA NA rs144573139 0.01 0.01 0.003 0.00379393 0.0139 NA 0.0014 NA 0.0041 0.02 NA NA NA 0.0049 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134527 NA NA 0.007326 0.000454 NA NA NA 5.6405406 1088 9 139252495 139252495 G A exonic GPSM1 NA synonymous SNV GPSM1:NM_001145639:exon4:c.G324A:p.P108P,GPSM1:NM_001200003:exon4:c.G324A:p.P108P,GPSM1:NM_001145638:exon14:c.G1851A:p.P617P exonic ENSG00000160360 NA synonymous SNV ENSG00000160360:ENST00000291775:exon3:c.G324A:p.P108P,ENSG00000160360:ENST00000392944:exon4:c.G324A:p.P108P,ENSG00000160360:ENST00000429455:exon4:c.G324A:p.P108P,ENSG00000160360:ENST00000354753:exon13:c.G1782A:p.P594P,ENSG00000160360:ENST00000440944:exon14:c.G1851A:p.P617P Score=460;Name=lod=99 NA 9q34.3 Score=903;Name=V$MYOD_01 NA NA NA rs3812547 0.75 0.75 0.778 0.750799 0.673 0.9454 0.5317 0.789 0.7342 0.68 0.92 0.62 0.78 0.6864 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078636 NA NA 0.666977 0.770086 NA 0.601 NA 5.6402896 1088 10 95139526 95139526 A G intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA Name=c-Fos Name=110 NA rs10882229 0.59 0.59 0.583 0.61861 0.3598 0.8542 0.4726 0.7005 0.635 0.36 0.86 0.45 0.72 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599438 NA NA NA NA NA 0.594 NA 5.6402 1088 11 43920997 43920997 G A ncRNA_exonic SEC14L1P1 NA NA NA ncRNA_exonic ENSG00000213693 NA NA NA Score=799;Name=lod=2356 NA 11p11.2 NA NA NA NA rs35017547 0.06 0.06 0.045 0.0716853 0.0268 0.0258 0.2075 0.0794 0.0583 0.02 0.03 0.2 0.07 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153818 NA NA NA NA NA 0.065 NA 5.6398666 1088 19 42799049 42799049 C T exonic CIC NA synonymous SNV CIC:NM_015125:exon20:c.C4533T:p.I1511I exonic ENSG00000079432 NA synonymous SNV ENSG00000079432:ENST00000573349:exon5:c.C714T:p.I238I,ENSG00000079432:ENST00000160740:exon20:c.C4527T:p.I1509I,ENSG00000079432:ENST00000575354:exon20:c.C4533T:p.I1511I,ENSG00000079432:ENST00000572681:exon21:c.C7251T:p.I2417I Score=631;Name=lod=489 NA 19q13.2 NA NA NA NA rs1052023 0.18 0.18 0.17 0.119808 0.3907 NA 0.1945 0.0106 0.0593 0.4 NA 0.24 0.01 0.2587 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607799 NA NA 0.377442 0.076941 NA 0.087 NA 5.6398246 1088 3 191075012 191075012 G T intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA Name=AP-2gamma,Rad21,c-Fos Name=89 NA rs1520203 0.34 0.34 0.318 0.331669 0.3608 0.2579 0.3545 0.3994 0.2699 0.37 0.22 0.38 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982416 NA NA NA NA NA 0.297 NA 5.6392 1088 19 1827714 1827714 G C exonic REXO1 NA synonymous SNV REXO1:NM_020695:exon2:c.C1074G:p.S358S exonic ENSG00000079313 NA synonymous SNV ENSG00000079313:ENST00000170168:exon2:c.C1074G:p.S358S NA NA 19p13.3 NA NA NA NA rs35091505 0.01 0.01 0.01 0.00379393 0.0089 NA 0.0115 0.0015 NA 0.01 NA 0.02 0.002 0.0084 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913484 NA NA 0.010192 0.002878 NA NA NA 5.6391746 1088 3 148714104 148714104 A G exonic GYG1 NA synonymous SNV GYG1:NM_001184720:exon3:c.A159G:p.T53T,GYG1:NM_001184721:exon3:c.A159G:p.T53T,GYG1:NM_004130:exon3:c.A159G:p.T53T exonic ENSG00000163754 NA synonymous SNV ENSG00000163754:ENST00000296048:exon3:c.A159G:p.T53T,ENSG00000163754:ENST00000345003:exon3:c.A159G:p.T53T,ENSG00000163754:ENST00000461191:exon3:c.A159G:p.T53T,ENSG00000163754:ENST00000473005:exon3:c.A21G:p.T7T,ENSG00000163754:ENST00000483267:exon3:c.A159G:p.T53T,ENSG00000163754:ENST00000484197:exon3:c.A159G:p.T53T,ENSG00000163754:ENST00000492285:exon4:c.A21G:p.T7T NA NA 3q24 NA NA NA NA rs148619511 0.01 0.01 0.002 0.00279553 0.0089 NA 0.0072 NA NA 0.01 NA 0.01 NA 0.0071 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332152 NA NA 0.012326 0.003631 NA NA NA 5.6383406 1088 11 117973673 117973673 G A intronic TMPRSS4 NA NA NA intronic ENSG00000137648 NA NA NA NA NA 11q23.3 NA Name=HEY1,USF-1,Nrf1,GATA2_(CG2-96),TBP,TAL1_(SC-12984),Egr-1,Pol2-4H8,GATA-2,ELF1_(SC-631),CHD2_(N-1250),p300_(F-4),GATA-1,Pol2,NRSF,SP1 Name=4 NA rs2276129 0.35 0.35 0.329 0.327276 0.3618 0.3661 0.3386 0.3094 0.2679 0.37 0.34 0.38 0.31 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242512 NA NA NA NA NA 0.449 NA 5.6382 1088 14 107083095 107083095 G A intergenic LINC00221,NONE dist=131566;dist=NONE NA NA intronic ENSG00000224373 NA NA NA NA NA 14q32.33 NA Name=ZNF263,CTCF_(SC-5916),CTCF_(C-20),Znf143_(16618-1-AP),CTCFL_(SC-98982),Rad21,CTCF Name=31 NA rs111745680 0.02 0.02 0.013 0.0181709 0.0288 NA 0.0418 0.0008 0.0327 0.02 0.0017 0.05 NA NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534475 NA NA NA NA NA 0.029 NA 5.6378667 1088 19 46313758 46313758 G C intronic RSPH6A NA NA NA intronic ENSG00000104941 NA NA NA NA NA 19q13.32 NA Name=CEBPB,CTCF,GR Name=37 NA rs10402263 0.45 0.45 0.431 0.424521 0.3628 0.5427 0.4438 0.4145 0.3661 0.37 0.59 0.44 0.42 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.245889 NA NA NA NA NA 0.384 NA 5.6372 1088 8 131138344 131138344 A C intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA Score=544;Name=lod=217 NA 8q24.21 NA NA Name=81 NA rs2305510 0.1 0.1 0.098 0.130192 0.1282 0.1577 0.049 0.0219 0.3078 0.13 0.17 0.06 0.02 0.1284 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.517634 2.517634 NA 0.106395 0.047208 NA 0.08 NA 5.637005 1088 4 106534691 106534691 A G intronic ARHGEF38 NA NA NA intronic ENSG00000236699 NA NA NA NA NA 4q24 NA Name=GATA3_(SC-268) Name=28 NA rs2305212 0.1 0.1 0.11 0.0874601 0.1392 0.0327 0.1196 0.0908 0.0634 0.14 0.03 0.13 0.11 0.1016 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.20933 NA NA 0.122209 0.09192 NA 0.072 NA 5.636991 1088 3 160170373 160170373 C T intergenic TRIM59,KPNA4 dist=2747;dist=42410 NA NA intronic ENSG00000213186 NA NA NA Score=649;Name=lod=580 NA 3q25.33 NA Name=ELF1_(SC-631) NA NA rs144973441 0.01 0.01 0.011 0.0109824 0.0298 0.001 0.0058 0.0015 0.0184 0.03 NA 0.01 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515181 NA NA NA NA NA 0.058 NA 5.6368667 1088 11 119059404 119059404 G A exonic PDZD3 NA nonsynonymous SNV PDZD3:NM_001168468:exon9:c.G1115A:p.R372Q,PDZD3:NM_024791:exon9:c.G1073A:p.R358Q exonic ENSG00000172367 NA nonsynonymous SNV ENSG00000172367:ENST00000392817:exon6:c.G1313A:p.R438Q,ENSG00000172367:ENST00000531114:exon7:c.G1313A:p.R438Q,ENSG00000172367:ENST00000322712:exon9:c.G1073A:p.R358Q,ENSG00000172367:ENST00000355547:exon9:c.G1115A:p.R372Q,ENSG00000172367:ENST00000525131:exon9:c.G1076A:p.R359Q NA NA 11q23.3 NA NA NA NA rs1815811 0.63 0.63 0.646 0.664936 0.5716 0.879 0.4251 0.6014 0.7965 0.56 0.86 0.47 0.6 0.581 0.86 0.73 T 0.002 B 0.0 B 0.536 N 1.000 P -0.895 N 1.62 T -1.006 T 0.000 T 0.039 -0.17 3.171 -1.83 -0.564 0.042 6.357 -0.170042 NA 0.67 0.543888 0.588636 NA 0.746 NA 5.6368454 1088 22 32587302 32587302 G A exonic RFPL2 NA synonymous SNV RFPL2:NM_006605:exon2:c.C411T:p.F137F,RFPL2:NM_001159545:exon4:c.C324T:p.F108F,RFPL2:NM_001159546:exon4:c.C324T:p.F108F,RFPL2:NM_001098527:exon5:c.C594T:p.F198F exonic ENSG00000128253 NA synonymous SNV ENSG00000128253:ENST00000248980:exon2:c.C411T:p.F137F,ENSG00000128253:ENST00000248983:exon4:c.C324T:p.F108F,ENSG00000128253:ENST00000400236:exon5:c.C324T:p.F108F,ENSG00000128253:ENST00000400237:exon5:c.C594T:p.F198F NA NA 22q12.3 NA NA NA NA rs76923625 0.0023 0.0023 NA 0.00339457 0.008 NA 0.0014 NA 0.0082 0.01 NA NA NA 0.0087 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436387 NA 0.15 0.013256 0.003177 NA 0.014 NA 5.6367106 1088 3 142048450 142048450 A G exonic XRN1 NA synonymous SNV XRN1:NM_001042604:exon37:c.T4227C:p.Y1409Y,XRN1:NM_019001:exon37:c.T4227C:p.Y1409Y exonic ENSG00000114127 NA synonymous SNV ENSG00000114127:ENST00000264951:exon37:c.T4227C:p.Y1409Y,ENSG00000114127:ENST00000392981:exon37:c.T4230C:p.Y1410Y NA NA 3q23 NA NA NA NA rs115294670 0.01 0.01 0.006 0.00299521 0.0099 NA 0.0029 0.0015 0.001 0.01 NA NA 0.002 0.0093 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491086 NA NA 0.011395 0.001816 NA NA NA 5.6360716 1088 9 138377280 138377280 G A exonic PPP1R26 NA synonymous SNV PPP1R26:NM_014811:exon4:c.G924A:p.K308K exonic ENSG00000196422 NA synonymous SNV ENSG00000196422:ENST00000605660:exon1:c.G924A:p.K308K,ENSG00000196422:ENST00000401470:exon3:c.G924A:p.K308K,ENSG00000196422:ENST00000604351:exon3:c.G924A:p.K308K,ENSG00000196422:ENST00000356818:exon4:c.G924A:p.K308K,ENSG00000196422:ENST00000605286:exon4:c.G924A:p.K308K NA NA 9q34.3 NA NA NA NA rs116980218 0.0032 0.0032 0.003 0.00299521 0.0119 NA NA 0.0008 0.002 0.01 NA NA NA 0.0074 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202876 NA NA 0.011401 0.000908 NA 0.014 NA 5.6359656 1088 17 26919344 26919344 T C exonic SPAG5 NA synonymous SNV SPAG5:NM_006461:exon3:c.A918G:p.T306T exonic ENSG00000076382 NA synonymous SNV ENSG00000076382:ENST00000321765:exon3:c.A918G:p.T306T NA NA 17q11.2 NA NA NA NA rs113667723 0.0041 0.0041 0.003 0.00299521 0.0099 NA 0.0058 0.0008 NA 0.01 NA 0.01 NA 0.008 0.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.377113 NA NA 0.012907 0.002497 NA NA NA 5.6358596 1088 6 32610689 32610689 C G intronic HLA-DQA1 NA NA NA UTR3 ENSG00000196735 ENST00000374949:c.*148C>G NA NA NA NA 6p21.32 NA Name=Pol2,PU.1,Pol2-4H8,CTCF_(C-20) Name=4 NA rs9272843 NA NA 0.154 0.170927 0.1899 0.1835 0.1614 0.1467 0.1779 NA NA NA NA 0.341 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135949 NA NA NA NA NA 0.174 NA 5.6357667 1088 1 159674933 159674933 C T intergenic APCS,CRP dist=116272;dist=7146 NA NA ncRNA_exonic ENSG00000223603 NA NA NA Score=410;Name=lod=62 Name=C-reactive protein 1q23.2 NA NA NA NA rs876537 0.39 0.39 0.373 0.354233 0.3648 0.5595 0.3934 0.171 0.3517 0.36 0.59 0.38 0.18 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.522536 1.522536 NA NA NA NA 0.312 NA 5.6352 1088 15 91801907 91801907 T G intronic SV2B NA NA NA intronic ENSG00000185518 NA NA NA NA NA 15q26.1 NA Name=CTCF,Max Name=21 NA rs1075840 0.39 0.39 0.423 0.409545 0.3648 0.1498 0.2493 0.8593 0.229 0.36 0.14 0.27 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347837 NA NA NA NA NA 0.471 NA 5.6352 1088 18 43243802 43243802 G A exonic SLC14A2 NA synonymous SNV SLC14A2:NM_007163:exon11:c.G1404A:p.S468S,SLC14A2:NM_001242692:exon12:c.G1404A:p.S468S exonic ENSG00000132874 NA synonymous SNV ENSG00000132874:ENST00000255226:exon11:c.G1404A:p.S468S,ENSG00000132874:ENST00000586448:exon12:c.G1404A:p.S468S NA NA 18q12.3 NA NA NA NA rs143263878 0.0046 0.0046 0.005 0.00798722 0.0149 NA 0.0101 0.0008 0.0174 0.01 NA 0.01 NA 0.0094 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93294 NA NA 0.007209 0.002043 NA 0.007 NA 5.6351576 1088 13 23898509 23898509 T C exonic SGCG NA synonymous SNV SGCG:NM_000231:exon8:c.T705C:p.L235L exonic ENSG00000102683 NA synonymous SNV ENSG00000102683:ENST00000218867:exon8:c.T705C:p.L235L,ENSG00000102683:ENST00000537476:exon9:c.T705C:p.L235L,ENSG00000102683:ENST00000545013:exon9:c.T705C:p.L235L Score=403;Name=lod=58 NA 13q12.12 NA NA NA NA rs1800353 0.64 0.64 0.601 0.629792 0.6918 0.748 0.7493 0.3253 0.771 0.68 0.78 0.72 0.33 0.6744 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448463 NA NA 0.665349 0.402179 NA 0.638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078407.2;CLNDSDB=.;CLNDSDBID=. 5.6351176 1089 13 52763889 52763889 G A ncRNA_exonic MRPS31P5 NA NA NA ncRNA_exonic ENSG00000217576,ENSG00000243406,ENSG00000272281 NA NA NA Score=355;Name=lod=37 NA 13q14.3 NA NA NA NA rs57455825 0.05 0.05 0.043 0.0609026 0.0318 0.0536 0.062 0.093 0.0542 0.04 0.06 0.06 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125521 NA NA NA NA NA 0.051 NA 5.6348666 1089 15 29060699 29060699 A G ncRNA_exonic LOC646278 NA NA NA ncRNA_exonic ENSG00000261377 NA NA NA Score=631;Name=lod=487 NA 15q13.1 NA NA NA NA rs3930183 0.06 0.06 0.047 0.0882588 0.0318 0.0278 0.0375 0.2247 0.0603 0.02 0.01 0.04 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.595528 1.595528 NA NA NA NA 0.051 NA 5.6348666 1089 4 38830012 38830012 G C exonic TLR6 NA synonymous SNV TLR6:NM_006068:exon2:c.C1083G:p.T361T exonic ENSG00000174130 NA synonymous SNV ENSG00000174130:ENST00000381950:exon1:c.C1083G:p.T361T,ENSG00000174130:ENST00000436693:exon2:c.C1083G:p.T361T NA NA 4p14 Score=894;Name=V$COUP_01 NA NA NA rs3821985 0.4 0.4 0.429 0.444888 0.3141 0.3958 0.3112 0.6944 0.3875 0.32 0.33 0.3 0.69 0.3766 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072834 NA NA 0.341744 0.63238 NA 0.42 NA 5.6342226 1089 21 20230102 20230102 C T intergenic TMPRSS15,LINC00320 dist=454132;dist=1884811 NA NA ncRNA_exonic ENSG00000198618 NA NA NA Score=374;Name=lod=44 NA 21q21.1 NA Name=CTCF_(SC-5916) NA NA rs2825212 0.29 0.29 0.216 0.276358 0.3658 0.3581 0.2334 0.0953 0.3753 0.38 0.36 0.24 0.1 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324808 1.324808 NA NA NA NA 0.21 NA 5.6342 1089 19 8367525 8367525 G C intronic CD320 NA NA NA intronic ENSG00000167775 NA NA NA NA NA 19p13.2 NA Name=Egr-1 Name=15 NA rs2227288 0.14 0.14 0.139 0.132987 0.1203 0.0675 0.1383 0.2307 0.0777 0.12 0.08 0.15 0.22 0.1247 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217573 NA NA 0.120987 0.202678 NA 0.13 NA 5.634013 1089 15 88576185 88576185 G C exonic NTRK3 NA synonymous SNV NTRK3:NM_001243101:exon13:c.C1464G:p.A488A,NTRK3:NM_001007156:exon14:c.C1488G:p.A496A,NTRK3:NM_001012338:exon14:c.C1488G:p.A496A,NTRK3:NM_002530:exon14:c.C1488G:p.A496A exonic ENSG00000140538 NA synonymous SNV ENSG00000140538:ENST00000557856:exon11:c.C1464G:p.A488A,ENSG00000140538:ENST00000558676:exon11:c.C1464G:p.A488A,ENSG00000140538:ENST00000357724:exon12:c.C1464G:p.A488A,ENSG00000140538:ENST00000540489:exon12:c.C1488G:p.A496A,ENSG00000140538:ENST00000542733:exon12:c.C1194G:p.A398A,ENSG00000140538:ENST00000317501:exon13:c.C1488G:p.A496A,ENSG00000140538:ENST00000355254:exon13:c.C1488G:p.A496A,ENSG00000140538:ENST00000360948:exon13:c.C1488G:p.A496A,ENSG00000140538:ENST00000394480:exon14:c.C1488G:p.A496A NA NA 15q25.3 NA NA Name=14 NA rs2229910 0.32 0.32 0.307 0.35004 0.3171 0.2083 0.3746 0.4395 0.3916 0.31 0.2 0.4 0.42 0.361 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819401 NA NA 0.355083 0.404816 ID=COSM147967;OCCURENCE=1(stomach) 0.239 NA 5.6334836 1089 4 159791519 159791519 G A exonic FNIP2 NA synonymous SNV FNIP2:NM_020840:exon14:c.G2847A:p.A949A exonic ENSG00000052795 NA synonymous SNV ENSG00000052795:ENST00000264433:exon14:c.G2847A:p.A949A,ENSG00000052795:ENST00000379346:exon14:c.G2916A:p.A972A NA NA 4q32.1 NA NA NA NA rs11946928 0.03 0.03 0.037 0.0551118 0.007 0.0308 0.013 0.1604 0.0174 0.01 0.01 0.01 0.12 0.0192 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120624 NA NA 0.007126 0.131643 NA 0.036 NA 5.6333406 1089 17 16691291 16691291 G A ncRNA_exonic USP32P1 NA NA NA ncRNA_exonic ENSG00000188933 NA NA NA Score=569;Name=lod=273 NA 17p11.2 NA NA NA NA rs141864685 0.02 0.02 0.008 0.0123802 0.0338 NA 0.0274 0.0015 0.0072 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618122 NA NA NA NA NA NA NA 5.6328666 1089 15 42264431 42264431 A G intronic EHD4 NA NA NA intronic ENSG00000103966 NA NA NA NA NA 15q15.1 NA Name=ZBTB7A_(SC-34508),Pol2-4H8,E2F6 Name=9 NA rs1704413 0.16 0.16 0.109 0.206869 0.1223 0.1101 0.1412 0.329 0.2751 0.12 0.12 0.15 0.3 0.1529 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.566104 NA NA 0.09239 0.245682 NA 0.029 NA 5.63241 1089 18 46468946 46468946 G A exonic SMAD7 NA nonsynonymous SNV SMAD7:NM_001190823:exon1:c.C83T:p.S28F intronic ENSG00000101665 NA NA NA NA NA 18q21.1 NA Name=JunD,GATA-2,c-Fos,c-Jun,TCF4 NA NA rs3764482 0.11 0.11 0.095 0.0878594 0.1978 0.0665 0.1297 0.0159 0.0644 0.2 0.05 0.15 0.03 0.1444 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.548901 1.548901 NA 0.192209 0.040172 NA 0.08 NA 5.6322577 1089 9 32425910 32425910 A G exonic ACO1 NA synonymous SNV ACO1:NM_002197:exon11:c.A1263G:p.E421E exonic ENSG00000122729 NA synonymous SNV ENSG00000122729:ENST00000309951:exon11:c.A1263G:p.E421E,ENSG00000122729:ENST00000379923:exon12:c.A1263G:p.E421E,ENSG00000122729:ENST00000541043:exon12:c.A966G:p.E322E Score=607;Name=lod=389 NA 9p21.1 NA NA NA NA rs3780473 0.37 0.37 0.354 0.353834 0.336 0.5516 0.3386 0.2632 0.3016 0.33 0.55 0.36 0.23 0.3445 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709008 NA NA 0.354419 0.273264 NA 0.29 NA 5.6317476 1089 19 58361549 58361549 A G intronic ZNF587 NA NA NA intronic ENSG00000198466,ENSG00000268750,ENSG00000269343 NA NA NA NA NA 19q13.43 NA Name=Pol2,BCL3,Pol2-4H8 Name=7 NA rs58754895 0.46 0.46 0.439 0.42492 0.3688 0.4087 0.4813 0.6135 0.2045 0.37 0.47 0.48 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279543 NA NA NA NA NA 0.319 NA 5.6312 1089 4 38829832 38829832 T C exonic TLR6 NA synonymous SNV TLR6:NM_006068:exon2:c.A1263G:p.K421K exonic ENSG00000174130 NA synonymous SNV ENSG00000174130:ENST00000381950:exon1:c.A1263G:p.K421K,ENSG00000174130:ENST00000436693:exon2:c.A1263G:p.K421K NA NA 4p14 NA NA Name=4 NA rs3775073 0.42 0.42 0.447 0.457468 0.3141 0.3958 0.3156 0.7398 0.3875 0.32 0.33 0.3 0.76 0.3793 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.732047 NA NA 0.342093 0.660463 NA 0.435 NA 5.6311736 1089 9 116044998 116044998 A G exonic PRPF4 NA synonymous SNV PRPF4:NM_001244926:exon4:c.A465G:p.K155K,PRPF4:NM_004697:exon4:c.A468G:p.K156K exonic ENSG00000136875 NA synonymous SNV ENSG00000136875:ENST00000374198:exon4:c.A468G:p.K156K,ENSG00000136875:ENST00000374199:exon4:c.A465G:p.K155K Score=624;Name=lod=457 NA 9q32 NA NA NA NA rs11552582 0.38 0.38 0.384 0.414137 0.3231 0.4306 0.2104 0.4599 0.5736 0.33 0.44 0.24 0.5 0.3687 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.159599 NA NA 0.343953 0.448933 NA 0.435 NA 5.6309136 1089 19 22783220 22783220 C A ncRNA_intronic LOC440518 NA NA NA ncRNA_intronic ENSG00000269332 NA NA NA Score=529;Name=lod=188 NA 19p12 NA NA NA NA rs9305001 0.09 0.09 0.08 0.0936502 0.0358 0.0516 0.1398 0.1778 0.0501 0.04 0.06 0.12 0.17 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116478 NA NA NA NA NA 0.138 NA 5.6308666 1089 1 154832304 154832304 T C UTR5 KCNN3 NM_170782:c.-116A>G NA NA UTR5 ENSG00000143603 ENST00000361147:c.-116A>G NA NA NA NA 1q21.3 NA Name=POU2F2,MEF2A,Pol2,Oct-2,NFKB,BATF,TBP Name=14 NA rs4845397 0.73 0.73 0.694 0.717252 0.7028 0.9841 0.7939 0.407 0.8221 0.71 0.99 0.78 0.42 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098795 NA NA NA NA NA 0.703 NA 5.6305334 1089 6 154771277 154771277 A G exonic CNKSR3 NA synonymous SNV CNKSR3:NM_173515:exon2:c.T168C:p.I56I exonic ENSG00000153721 NA synonymous SNV ENSG00000153721:ENST00000607772:exon2:c.T168C:p.I56I Score=534;Name=lod=198 NA 6q25.2 Score=817;Name=V$ER_Q6 NA NA NA rs9322467 0.78 0.78 0.791 0.804113 0.666 0.9008 0.7579 0.8616 0.8016 0.67 0.92 0.74 0.82 0.7211 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.712496 1.712496 NA 0.649419 0.834317 NA 0.761 NA 5.6301476 1089 17 39593768 39593768 A G exonic KRT38 NA nonsynonymous SNV KRT38:NM_006771:exon7:c.T1267C:p.S423P exonic ENSG00000171360 NA nonsynonymous SNV ENSG00000171360:ENST00000246646:exon7:c.T1267C:p.S423P NA NA 17q21.2 NA NA NA NA rs897416 0.92 0.92 0.929 0.933706 0.8837 0.999 0.9236 0.9387 0.9182 0.88 1 0.91 0.92 0.9134 1 0.55 T 0.0 B 0.0 B 0.103 N 1.000 P 0 N -1.58 D -1.006 T 0.000 T 0.053 -0.448 1.924 -0.938 -0.486 -0.227 3.354 -0.447651 NA 0.93 0.906163 0.925556 NA 0.906 NA 5.6300704 1089 12 6435571 6435571 A G intronic PLEKHG6 NA NA NA intronic ENSG00000008323 NA NA NA NA Name=Obesity-related traits 12p13.31 NA Name=CTCF_(C-20),CTCF,Rad21,SMC3_(ab9263) Name=111 NA rs10849441 0.37 0.37 0.386 0.308307 0.4901 0.2659 0.281 0.2375 0.2802 0.51 0.28 0.33 0.28 0.4124 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194013 NA NA 0.467558 0.259419 NA 0.362 NA 5.629942 1089 11 128840872 128840872 G A exonic ARHGAP32 NA synonymous SNV ARHGAP32:NM_014715:exon13:c.C3147T:p.R1049R,ARHGAP32:NM_001142685:exon22:c.C4194T:p.R1398R exonic ENSG00000134909 NA synonymous SNV ENSG00000134909:ENST00000527272:exon12:c.C3147T:p.R1049R,ENSG00000134909:ENST00000392657:exon13:c.C3147T:p.R1049R,ENSG00000134909:ENST00000310343:exon22:c.C4194T:p.R1398R NA NA 11q24.3 NA NA NA NA rs61748829 0.01 0.01 0.006 0.00399361 0.0179 NA NA NA 0.002 0.02 NA NA NA 0.0099 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179501 NA NA 0.009891 0.002726 NA NA NA 5.6289756 1089 10 103542959 103542959 C G intronic NPM3 NA NA NA intronic ENSG00000107833 NA NA NA NA NA 10q24.32 NA Name=Egr-1 Name=6 NA rs935445 0.19 0.19 0.183 0.250399 0.3718 0.129 0.3746 0.0295 0.4611 0.31 0.12 0.28 0.03 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907627 NA NA NA NA NA NA NA 5.6282 1089 10 103542960 103542960 C G intronic NPM3 NA NA NA intronic ENSG00000107833 NA NA NA NA NA 10q24.32 NA Name=Egr-1 Name=6 NA rs935444 0.19 0.19 0.175 0.250399 0.3718 0.129 0.3746 0.0295 0.4611 0.31 0.12 0.28 0.03 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105373 NA NA NA NA NA NA NA 5.6282 1089 6 85996401 85996401 C T intergenic TBX18,NT5E dist=522447;dist=162901 NA NA ncRNA_exonic ENSG00000217060 NA NA NA Score=687;Name=lod=825 NA 6q14.3 NA NA Name=7 NA rs313229 0.51 0.51 0.509 0.544728 0.3728 0.6498 0.4986 0.6097 0.5583 0.38 0.69 0.48 0.53 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571174 NA NA NA NA NA 0.464 NA 5.6272 1089 2 218925419 218925419 A T ncRNA_exonic CXCR2P1 NA NA NA ncRNA_exonic ENSG00000229754 NA NA NA NA NA 2q35 Score=841;Name=V$SRF_Q6 NA NA NA rs3181379 0.01 0.01 0.008 0.00599042 0.0249 NA 0.0072 NA NA 0.02 NA 0.01 NA 0.0147 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915861 NA NA NA NA NA NA NA 5.6270666 1089 7 117865028 117865028 G A exonic ANKRD7 NA synonymous SNV ANKRD7:NM_019644:exon1:c.G144A:p.K48K exonic ENSG00000106013 NA synonymous SNV ENSG00000106013:ENST00000265224:exon1:c.G144A:p.K48K,ENSG00000106013:ENST00000357099:exon1:c.G144A:p.K48K,ENSG00000106013:ENST00000486422:exon1:c.G144A:p.K48K NA NA 7q31.31 NA NA NA NA rs10487391 0.04 0.04 0.028 0.0315495 0.0139 0.0645 0.0346 0.0227 0.0256 0.01 0.07 0.05 0.03 0.0257 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347243 NA NA NA NA NA 0.007 NA 5.6270666 1089 19 12089363 12089363 T C exonic ZNF763 NA synonymous SNV ZNF763:NM_001012753:exon4:c.T633C:p.A211A exonic ENSG00000197054,ENSG00000267179 NA synonymous SNV ENSG00000197054:ENST00000545530:exon2:c.T258C:p.A86A,ENSG00000197054:ENST00000343949:exon4:c.T633C:p.A211A,ENSG00000197054:ENST00000358987:exon4:c.T624C:p.A208A,ENSG00000197054:ENST00000538752:exon4:c.T684C:p.A228A,ENSG00000267179:ENST00000590798:exon4:c.T684C:p.A228A NA NA 19p13.2 NA NA NA NA rs7253997 0.01 0.01 NA 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.01 0.01 0.02 0.02 0.0168 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219296 NA NA NA NA NA NA NA 5.6269666 1089 22 32795641 32795641 C T exonic C22orf28 NA synonymous SNV C22orf28:NM_014306:exon6:c.G603A:p.Q201Q exonic ENSG00000100220 NA synonymous SNV ENSG00000100220:ENST00000216038:exon6:c.G603A:p.Q201Q Score=621;Name=lod=444 NA 22q12.3 NA NA NA NA rs5749426 0.44 0.44 0.45 0.445687 0.3032 0.5179 0.3487 0.6392 0.3252 0.31 0.51 0.35 0.62 0.3881 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811787 NA NA 0.348605 0.610758 NA 0.457 NA 5.6267616 1089 19 579630 579630 G A exonic BSG NA synonymous SNV BSG:NM_198589:exon2:c.G198A:p.A66A,BSG:NM_001728:exon3:c.G546A:p.A182A exonic ENSG00000172270 NA synonymous SNV ENSG00000172270:ENST00000353555:exon2:c.G198A:p.A66A,ENSG00000172270:ENST00000573216:exon2:c.G174A:p.A58A,ENSG00000172270:ENST00000333511:exon3:c.G546A:p.A182A NA NA 19p13.3 NA NA NA NA rs61729580 0.0041 0.0041 0.003 0.00359425 0.0109 NA 0.0058 0.0015 0.001 0.01 NA 0.01 NA 0.0121 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404345 NA NA 0.017334 0.004773 NA NA NA 5.6263326 1089 1 55119466 55119466 C T exonic MROH7 NA synonymous SNV MROH7:NM_001039464:exon3:c.C867T:p.S289S exonic ENSG00000184313,ENSG00000271723 NA synonymous SNV ENSG00000184313:ENST00000438846:exon1:c.C867T:p.S289S,ENSG00000184313:ENST00000413188:exon2:c.C867T:p.S289S,ENSG00000184313:ENST00000422659:exon2:c.C867T:p.S289S,ENSG00000184313:ENST00000339553:exon3:c.C867T:p.S289S,ENSG00000184313:ENST00000395690:exon3:c.C867T:p.S289S,ENSG00000271723:ENST00000414150:exon3:c.C867T:p.S289S,ENSG00000184313:ENST00000421030:exon3:c.C867T:p.S289S,ENSG00000271723:ENST00000425300:exon3:c.C867T:p.S289S,ENSG00000184313:ENST00000440047:exon3:c.C867T:p.S289S,ENSG00000271723:ENST00000606515:exon3:c.C867T:p.S289S NA NA 1p32.3 NA NA NA NA rs2304315 0.07 0.07 0.057 0.066893 0.0109 0.1032 0.0447 0.1354 0.0102 0.01 0.09 0.04 0.15 0.0273 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021292 NA NA 0.0032 0.102828 ID=COSM1343520,COSM1343521;OCCURENCE=1(large_intestine) 0.065 NA 5.6252666 1089 9 123156657 123156657 T G intronic CDK5RAP2 NA NA NA intronic ENSG00000136861 NA NA NA NA NA 9q33.2 NA Name=STAT3,TCF4,CTCF Name=100 NA rs10984901 0.34 0.34 0.298 0.33107 0.3748 0.4633 0.4251 0.0439 0.4714 0.39 0.48 0.38 0.08 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109264 NA NA NA NA NA 0.326 NA 5.6252 1090 1 65614260 65614260 C T intronic AK4 NA NA NA intronic ENSG00000162433 NA NA NA NA NA 1p31.3 NA Name=TAF1,Pol2-4H8,Pol2 Name=102 NA rs115225200 0.15 0.15 0.127 0.156749 0.0686 0.1012 0.3069 0.2375 0.089 0.07 0.1 0.29 0.23 0.2343 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.508283 1.508283 NA 0.072606 0.163007 NA 0.167 NA 5.624494 1090 19 50562852 50562852 G A ncRNA_intronic FLJ26850 NA NA NA ncRNA_exonic ENSG00000269540 NA NA NA NA NA 19q13.33 NA Name=KAP1 NA NA rs61743955 0.02 0.02 0.025 0.0131789 0.0427 NA 0.0259 NA 0.0051 0.05 NA 0.04 NA NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.805115 NA NA NA NA NA 0.087 NA 5.6239666 1090 1 152057794 152057794 G C exonic TCHHL1 NA synonymous SNV TCHHL1:NM_001008536:exon3:c.C2364G:p.P788P exonic ENSG00000182898 NA synonymous SNV ENSG00000182898:ENST00000368806:exon3:c.C2364G:p.P788P NA NA 1q21.3 NA NA NA NA rs61750909 0.01 0.01 0.008 0.0061901 0.0149 NA 0.0173 NA 0.0041 0.01 NA 0.02 NA 0.0119 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308145 NA NA 0.016047 0.002497 NA NA NA 5.6238196 1090 2 96780716 96780716 T G exonic ADRA2B NA synonymous SNV ADRA2B:NM_000682:exon1:c.A1173C:p.G391G exonic ENSG00000222040 NA synonymous SNV ENSG00000222040:ENST00000409345:exon1:c.A1173C:p.G391G Score=535;Name=lod=199 NA 2q11.1 Score=937;Name=V$GATA2_01 NA NA NA rs2229169 0.67 0.67 0.701 0.705272 0.6819 0.5962 0.6571 0.7685 0.7904 0.67 0.58 0.69 0.78 0.6785 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890758 NA NA 0.682591 0.748167 NA 0.681 NA 5.6236756 1090 5 96117579 96117579 G A intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA Name=FOXA1_(C-20),FOSL2,SP1,FOXA2_(SC-6554),FOXA1_(SC-101058) Name=11 NA rs72773923 0.07 0.07 0.059 0.0607029 0.1392 NA 0.1196 0.0053 0.0757 0.13 NA 0.13 0.01 0.1014 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035404 NA NA 0.136047 0.023377 NA 0.152 NA 5.623353 1090 5 176308113 176308113 G A exonic HK3 NA synonymous SNV HK3:NM_002115:exon19:c.C2733T:p.T911T exonic ENSG00000160883 NA synonymous SNV ENSG00000160883:ENST00000292432:exon19:c.C2733T:p.T911T NA NA 5q35.2 NA NA NA NA rs61745231 0.01 0.01 0.011 0.0159744 0.0129 0.001 0.013 0.0098 0.045 0.02 NA 0.01 0.01 0.0171 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.883991 NA NA 0.013837 0.008171 NA 0.007 NA 5.6228296 1090 4 185686032 185686032 C T exonic ACSL1 NA synonymous SNV ACSL1:NM_001995:exon15:c.G1407A:p.L469L exonic ENSG00000151726 NA synonymous SNV ENSG00000151726:ENST00000503407:exon3:c.G225A:p.L75L,ENSG00000151726:ENST00000454703:exon14:c.G894A:p.L298L,ENSG00000151726:ENST00000507295:exon14:c.G1305A:p.L435L,ENSG00000151726:ENST00000281455:exon15:c.G1407A:p.L469L,ENSG00000151726:ENST00000504342:exon15:c.G1407A:p.L469L,ENSG00000151726:ENST00000513317:exon15:c.G1407A:p.L469L,ENSG00000151726:ENST00000515030:exon15:c.G1407A:p.L469L,ENSG00000151726:ENST00000437665:exon16:c.G894A:p.L298L Score=399;Name=lod=56 NA 4q35.1 NA NA Name=5 NA rs2292898 0.81 0.81 0.807 0.83147 0.6511 0.9306 0.8242 0.9546 0.7536 0.64 0.93 0.77 0.96 0.7348 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322979 NA NA 0.65814 0.916251 NA 0.812 NA 5.6226266 1090 7 38948595 38948595 C T intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA NA NA 7p14.1 NA Name=EBF1_(C-8),Pol2,NFKB,TBP,ELK4,Pol2-4H8,HA-E2F1 Name=3 NA rs2072247 0.21 0.21 0.221 0.154752 0.3777 0.1319 0.2147 0.0234 0.0838 0.4 0.1 0.24 0.02 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03261 NA NA NA NA NA 0.094 NA 5.6223 1090 19 55670825 55670825 T C intronic DNAAF3 NA NA NA ncRNA_exonic ENSG00000267577 NA NA NA NA NA 19q13.42 NA Name=AP-2gamma,BAF155 Name=56 NA rs28377509 0.41 0.41 0.414 0.469249 0.1909 0.4385 0.4395 0.73 0.456 0.19 0.45 0.36 0.73 0.3244 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437169 NA NA 0.195793 0.61461 NA 0.442 NA 5.6222403 1090 7 35293193 35293193 A G exonic TBX20 NA synonymous SNV TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S exonic ENSG00000164532 NA synonymous SNV ENSG00000164532:ENST00000408931:exon1:c.T39C:p.S13S Score=661;Name=lod=647 NA 7p14.2 NA NA Name=6 NA rs336283 0.69 0.69 0.686 0.69389 0.6789 0.5893 0.6816 0.8797 0.5746 0.69 0.56 0.7 0.85 0.6767 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.944065 1.944065 NA 0.689186 0.857694 NA 0.681 NA 5.6218806 1090 20 12989901 12989901 T C UTR5 SPTLC3 NM_018327:c.-15T>C NA NA UTR5 ENSG00000172296 ENST00000434210:c.-15T>C,ENST00000399002:c.-15T>C,ENST00000378194:c.-15T>C NA NA NA NA 20p12.1 NA Name=CTCF_(SC-5916),GATA3_(SC-268),Rad21,CTCF Name=83 NA rs3761896 0.21 0.21 0.188 0.217452 0.2197 0.254 0.2522 0.028 0.409 0.23 0.33 0.21 0.03 0.2521 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.743425 1.743425 NA 0.240233 0.0665 NA 0.152 NA 5.6213004 1090 10 94966732 94966732 A C intergenic CYP26A1,MYOF dist=129091;dist=99454 NA NA ncRNA_exonic ENSG00000237417 NA NA NA Score=647;Name=lod=566 NA 10q23.33 NA Name=CTCF NA NA rs7895627 0.54 0.54 0.34 0.537939 0.3787 0.9554 0.549 0.2821 0.6094 0.4 0.95 0.52 0.29 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346314 NA NA NA NA NA 0.21 NA 5.6213 1090 9 116764283 116764283 C T exonic ZNF618 NA synonymous SNV ZNF618:NM_133374:exon4:c.C345T:p.Y115Y exonic ENSG00000157657 NA synonymous SNV ENSG00000157657:ENST00000288466:exon4:c.C345T:p.Y115Y,ENSG00000157657:ENST00000374124:exon4:c.C345T:p.Y115Y,ENSG00000157657:ENST00000452710:exon4:c.C345T:p.Y115Y,ENSG00000157657:ENST00000374126:exon5:c.C441T:p.Y147Y Score=615;Name=lod=423 NA 9q32 NA NA NA NA rs4978561 0.37 0.37 0.358 0.330272 0.3489 0.6022 0.2882 0.1293 0.3323 0.37 0.63 0.29 0.13 0.3641 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833068 NA NA 0.33245 0.153672 NA 0.333 NA 5.6212166 1090 11 33097765 33097765 G T ncRNA_exonic LINC00294 NA NA NA ncRNA_exonic ENSG00000213713 NA NA NA Score=568;Name=lod=272 NA 11p13 NA NA NA NA rs116510397 NA NA NA 0.014976 0.0457 NA 0.0274 0.0015 0.0082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164607 NA NA NA NA NA NA NA 5.6209666 1090 6 132594152 132594152 G A intergenic LOC100507254,MOXD1 dist=103638;dist=23042 NA NA ncRNA_exonic ENSG00000223912 NA NA NA Score=766;Name=lod=1735 NA 6q23.2 NA NA Name=6 NA rs6933036 0.57 0.57 0.599 0.614018 0.3797 0.6577 0.4193 0.8351 0.6493 0.38 0.66 0.41 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483892 NA NA NA NA NA 0.674 NA 5.6203 1090 22 25145453 25145453 C T exonic PIWIL3 NA nonsynonymous SNV PIWIL3:NM_001008496:exon11:c.G1252A:p.V418M,PIWIL3:NM_001255975:exon11:c.G1252A:p.V418M exonic ENSG00000184571 NA nonsynonymous SNV ENSG00000184571:ENST00000332271:exon11:c.G1252A:p.V418M,ENSG00000184571:ENST00000527701:exon12:c.G925A:p.V309M,ENSG00000184571:ENST00000533313:exon12:c.G925A:p.V309M NA NA 22q11.23 NA NA NA NA rs1892723 0.93 0.93 0.932 0.926518 0.8996 0.9405 0.8919 0.9962 0.8701 0.89 0.94 0.9 0.99 0.8986 0.99 1 T 0.006 B 0.003 B 0.000 N 1.000 P -3.165 N 3.3 T -1.023 T 0.000 T 0.19 -2.086 0.006 1.74 -0.034 1.783 5.964 -2.086393 NA 1 0.915 0.978212 NA 0.971 NA 5.6201334 1090 7 12725466 12725466 C A upstream ARL4A NA NA NA ncRNA_exonic ENSG00000271253 NA NA NA Score=420;Name=lod=68 NA 7p21.3 NA Name=CTCF NA NA rs3757444 0.43 0.43 0.418 0.452676 0.5467 0.2133 0.3458 0.4947 0.6217 0.56 0.21 0.4 0.51 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820834 NA NA NA NA NA 0.464 NA 5.6199666 1090 6 30888169 30888169 G A exonic VARS2 NA synonymous SNV VARS2:NM_001167733:exon13:c.G933A:p.L311L,VARS2:NM_001167734:exon14:c.G1443A:p.L481L,VARS2:NM_020442:exon14:c.G1353A:p.L451L exonic ENSG00000137411 NA synonymous SNV ENSG00000137411:ENST00000321897:exon13:c.G1353A:p.L451L,ENSG00000137411:ENST00000542001:exon13:c.G933A:p.L311L,ENSG00000137411:ENST00000416670:exon14:c.G1353A:p.L451L,ENSG00000137411:ENST00000541562:exon14:c.G1443A:p.L481L Score=423;Name=lod=70 NA 6p21.33 NA NA NA NA rs2517468 0.24 0.24 0.234 0.222244 0.3559 0.247 0.2075 0.0983 0.2372 0.35 0.28 0.21 0.06 0.3197 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075341 NA NA 0.371628 0.139582 ID=COSM451180;OCCURENCE=1(breast) 0.283 NA 5.6194386 1090 4 123187869 123187869 C T intronic KIAA1109 NA NA NA intronic ENSG00000138688 NA NA NA NA NA 4q27 NA Name=FOSL2 Name=7 NA rs7683061 0.36 0.36 0.337 0.393371 0.3807 0.3571 0.3718 0.3359 0.5368 0.38 0.34 0.37 0.32 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747088 NA NA NA NA NA 0.362 NA 5.6193 1090 12 15090762 15090762 G C intronic ERP27 NA NA NA intronic ENSG00000139055 NA NA NA NA NA 12p12.3 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916) Name=27 NA rs3748296 0.28 0.28 0.271 0.285743 0.3807 0.125 0.3876 0.2776 0.2924 0.36 0.11 0.39 0.29 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960335 NA NA NA NA NA 0.37 NA 5.6193 1090 2 186672897 186672897 A G exonic FSIP2 NA synonymous SNV FSIP2:NM_173651:exon17:c.A19131G:p.L6377L exonic ENSG00000188738 NA synonymous SNV ENSG00000188738:ENST00000343098:exon17:c.A19131G:p.L6377L,ENSG00000188738:ENST00000424728:exon17:c.A18864G:p.L6288L Score=385;Name=lod=49 NA 2q32.1 NA NA NA NA rs4666690 0.34 0.34 0.32 0.326877 0.3658 0.4077 0.3559 0.2451 0.2935 0.37 0.41 0.34 0.23 0.3275 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646004 NA NA 0.354105 0.241704 NA 0.355 NA 5.6192616 1090 2 185802184 185802184 C A exonic ZNF804A NA synonymous SNV ZNF804A:NM_194250:exon4:c.C2061A:p.I687I exonic ENSG00000170396 NA synonymous SNV ENSG00000170396:ENST00000302277:exon4:c.C2061A:p.I687I NA NA 2q32.1 NA NA NA NA rs61739287 0.01 0.01 0.002 0.00658946 0.0179 NA 0.0043 NA 0.0123 0.02 NA 0.01 NA 0.012 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294311 NA NA 0.017591 0.004316 NA NA NA 5.6191756 1090 19 1051214 1051214 A G exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon20:c.A2745G:p.V915V exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon14:c.A2331G:p.V777V,ENSG00000064687:ENST00000433129:exon19:c.A2745G:p.V915V,ENSG00000064687:ENST00000263094:exon20:c.A2745G:p.V915V NA NA 19p13.3 NA Name=TAF1 NA NA rs3752240 0.31 0.31 0.298 0.289137 0.3509 0.1101 0.4107 0.3676 0.2178 0.35 0.13 0.38 0.39 0.3361 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.936057 NA NA 0.360658 0.374886 NA 0.399 NA 5.6190086 1090 19 7764741 7764741 G A intronic FCER2 NA NA NA UTR5 ENSG00000104921 ENST00000593418:c.-95C>T NA NA NA NA 19p13.2 NA Name=CCNT2,ZNF263,GATA-1 Name=8 NA rs2287867 0.54 0.54 0.51 0.527356 0.5477 0.6498 0.5245 0.3525 0.6186 0.56 0.65 0.51 0.39 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82625 NA NA NA NA NA 0.486 NA 5.6189667 1090 18 44561177 44561177 A G exonic TCEB3B NA synonymous SNV TCEB3B:NM_016427:exon1:c.T459C:p.A153A exonic ENSG00000206181 NA synonymous SNV ENSG00000206181:ENST00000332567:exon1:c.T459C:p.A153A NA NA 18q21.1 NA NA NA NA rs61743594 0.01 0.01 0.004 0.00658946 0.0229 NA 0.0101 0.0008 0.002 0.02 NA 0.01 0.002 0.0105 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008483 NA NA 0.014884 0.004085 NA 0.029 NA 5.6183826 1090 3 3182295 3182295 G T exonic TRNT1 NA synonymous SNV TRNT1:NM_182916:exon4:c.G444T:p.A148A exonic ENSG00000072756 NA synonymous SNV ENSG00000072756:ENST00000251607:exon4:c.G444T:p.A148A,ENSG00000072756:ENST00000280591:exon4:c.G444T:p.A148A,ENSG00000072756:ENST00000434583:exon4:c.G444T:p.A148A NA NA 3p26.2 NA NA NA NA rs41399044 0.04 0.04 0.056 0.0445288 0.0189 0.004 0.0159 0.1415 0.002 0.02 0.0035 0.02 0.15 0.0178 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140013 NA NA 0.011977 0.1069 NA 0.051 NA 5.6179896 1090 19 7764772 7764772 T C intronic FCER2 NA NA NA UTR5 ENSG00000104921 ENST00000593418:c.-126A>G NA NA NA NA 19p13.2 NA Name=GATA-1,ZEB1_(SC-25388),CCNT2,ZNF263 Name=8 NA rs2287868 0.56 0.56 0.534 0.553514 0.5487 0.6498 0.5303 0.4478 0.6186 0.56 0.65 0.52 0.49 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790534 NA NA NA NA NA 0.514 NA 5.6179667 1090 19 39575987 39575987 G A exonic PAPL NA synonymous SNV PAPL:NM_001004318:exon2:c.G78A:p.G26G exonic ENSG00000183760 NA synonymous SNV ENSG00000183760:ENST00000594229:exon1:c.G78A:p.G26G,ENSG00000183760:ENST00000331256:exon2:c.G78A:p.G26G,ENSG00000183760:ENST00000601575:exon2:c.G78A:p.G26G NA NA 19q13.2 NA NA NA NA rs544041 0.11 0.11 0.14 0.137979 0.004 NA 0.0447 0.4962 NA 0.004 NA 0.06 0.43 0.042 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07374 NA NA 0.003372 0.42079 NA 0.21 NA 5.6172946 1090 8 128428795 128428795 G A exonic POU5F1B NA synonymous SNV POU5F1B:NM_001159542:exon1:c.G684A:p.Q228Q exonic ENSG00000212993 NA synonymous SNV ENSG00000212993:ENST00000391675:exon1:c.G684A:p.Q228Q,ENSG00000212993:ENST00000465342:exon2:c.G684A:p.Q228Q Score=668;Name=lod=691 NA 8q24.21 NA NA NA NA rs6998254 0.52 0.52 0.506 0.509385 0.5239 0.5982 0.6124 0.3283 0.5746 0.52 0.62 0.59 0.35 0.5256 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064434 NA NA NA NA NA 0.551 NA 5.6171666 1090 11 9116358 9116358 G A ncRNA_exonic KRT8P41 NA NA NA ncRNA_exonic ENSG00000213538 NA NA NA Score=703;Name=lod=956 NA 11p15.4 NA NA NA NA rs11042176 0.02 0.02 0.025 0.014377 0.0497 NA 0.0115 0.0015 0.0123 0.06 NA 0.01 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362627 NA NA NA NA NA 0.022 NA 5.6169666 1090 3 167051726 167051726 A G exonic ZBBX NA synonymous SNV ZBBX:NM_001199201:exon10:c.T576C:p.F192F,ZBBX:NM_001199202:exon10:c.T489C:p.F163F,ZBBX:NM_024687:exon10:c.T576C:p.F192F exonic ENSG00000169064 NA synonymous SNV ENSG00000169064:ENST00000307529:exon7:c.T576C:p.F192F,ENSG00000169064:ENST00000392767:exon7:c.T576C:p.F192F,ENSG00000169064:ENST00000455345:exon9:c.T576C:p.F192F,ENSG00000169064:ENST00000392764:exon10:c.T489C:p.F163F,ENSG00000169064:ENST00000392766:exon10:c.T576C:p.F192F Score=289;Name=lod=20 NA 3q26.1 NA NA NA NA rs10936530 0.46 0.46 0.413 0.460463 0.341 0.6637 0.4395 0.4584 0.3916 0.34 0.67 0.4 0.43 0.3812 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817104 NA NA 0.327684 0.427019 NA 0.457 NA 5.6167826 1090 21 45550587 45550587 T G exonic PWP2 NA synonymous SNV PWP2:NM_005049:exon21:c.T2694G:p.S898S exonic ENSG00000241945 NA synonymous SNV ENSG00000241945:ENST00000291576:exon21:c.T2694G:p.S898S NA NA 21q22.3 NA NA NA NA rs141972655 0.01 0.01 0.007 0.00559105 0.0219 NA 0.0072 NA 0.001 0.02 NA 0.01 NA 0.0116 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069527 NA NA 0.016395 0.00227 NA NA NA 5.6167716 1090 6 18161563 18161563 G A exonic KDM1B NA synonymous SNV KDM1B:NM_153042:exon4:c.G93A:p.K31K exonic ENSG00000165097 NA synonymous SNV ENSG00000165097:ENST00000297792:exon4:c.G93A:p.K31K,ENSG00000165097:ENST00000388870:exon4:c.G93A:p.K31K,ENSG00000165097:ENST00000397244:exon4:c.G93A:p.K31K Score=457;Name=lod=96 NA 6p22.3 NA NA NA NA rs4716224 0.34 0.34 0.326 0.313498 0.3419 0.5258 0.3501 0.146 0.2658 0.35 0.51 0.33 0.14 0.3491 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162378 NA NA 0.35907 0.195188 NA 0.297 NA 5.6165966 1090 12 53454552 53454552 C T exonic TENC1 NA synonymous SNV TENC1:NM_015319:exon20:c.C2892T:p.T964T,TENC1:NM_170754:exon20:c.C2862T:p.T954T,TENC1:NM_198316:exon20:c.C2490T:p.T830T exonic ENSG00000111077 NA synonymous SNV ENSG00000111077:ENST00000314250:exon20:c.C2862T:p.T954T,ENSG00000111077:ENST00000314276:exon20:c.C2892T:p.T964T,ENSG00000111077:ENST00000379902:exon20:c.C2490T:p.T830T,ENSG00000111077:ENST00000546602:exon20:c.C2571T:p.T857T,ENSG00000111077:ENST00000552570:exon20:c.C2862T:p.T954T,ENSG00000111077:ENST00000451358:exon21:c.C2832T:p.T944T,ENSG00000111077:ENST00000549700:exon21:c.C2667T:p.T889T NA NA 12q13.13 NA NA NA NA rs118159776 0.01 0.01 0.01 0.00559105 0.0209 NA 0.0058 0.0008 0.002 0.03 NA 0.01 NA 0.0117 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.647607 NA NA 0.017558 0.004085 NA 0.007 NA 5.6165086 1090 19 14499614 14499614 G C exonic CD97 NA synonymous SNV CD97:NM_001025160:exon3:c.G174C:p.P58P,CD97:NM_001784:exon3:c.G174C:p.P58P,CD97:NM_078481:exon3:c.G174C:p.P58P exonic ENSG00000123146 NA synonymous SNV ENSG00000123146:ENST00000586517:exon2:c.G123C:p.P41P,ENSG00000123146:ENST00000242786:exon3:c.G174C:p.P58P,ENSG00000123146:ENST00000357355:exon3:c.G174C:p.P58P,ENSG00000123146:ENST00000358600:exon3:c.G174C:p.P58P,ENSG00000123146:ENST00000587606:exon3:c.G174C:p.P58P,ENSG00000123146:ENST00000591080:exon3:c.G174C:p.P58P,ENSG00000123146:ENST00000592261:exon3:c.G174C:p.P58P NA NA 19p13.12 NA NA NA NA rs150665764 0.04 0.04 0.03 0.0393371 0.0258 0.0188 0.1023 0.0416 0.0266 0.02 0.02 0.09 0.05 0.0244 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145127 NA NA NA NA NA NA NA 5.6164666 1090 3 129810158 129810158 C T exonic ALG1L2 NA synonymous SNV ALG1L2:NM_001136152:exon2:c.C75T:p.D25D ncRNA_exonic ENSG00000251287 NA NA NA Score=477;Name=lod=116 NA 3q22.1 NA NA NA NA rs6803922 0.19 0.19 0.164 0.184505 0.3042 0.005 0.1758 0.239 0.1789 0.31 0.0017 0.19 0.21 0.2463 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110505 NA NA NA NA NA 0.217 NA 5.6161666 1090 1 53544439 53544439 G A exonic PODN NA synonymous SNV PODN:NM_001199082:exon4:c.G975A:p.P325P,PODN:NM_153703:exon8:c.G1401A:p.P467P,PODN:NM_001199081:exon9:c.G1344A:p.P448P,PODN:NM_001199080:exon10:c.G1344A:p.P448P exonic ENSG00000174348 NA synonymous SNV ENSG00000174348:ENST00000395871:exon4:c.G975A:p.P325P,ENSG00000174348:ENST00000312553:exon8:c.G1401A:p.P467P,ENSG00000174348:ENST00000371500:exon10:c.G1344A:p.P448P Score=612;Name=lod=410 NA 1p32.3 Score=885;Name=V$AREB6_03 NA NA NA rs1288388 0.46 0.46 0.438 0.410543 0.7326 0.2937 0.4813 0.1528 0.498 0.74 0.28 0.54 0.18 0.59 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026139 NA NA 0.728023 0.264412 NA 0.514 NA 5.6160436 1090 6 29975834 29975834 C G ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA Name=USF-1 NA NA rs9261109 0.05 0.05 0.05 0.0417332 0.0507 0.0377 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4189 NA NA NA NA NA 0.029 NA 5.6159666 1090 9 14859296 14859296 G A exonic FREM1 NA synonymous SNV FREM1:NM_144966:exon5:c.C516T:p.T172T exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380880:exon4:c.C516T:p.T172T,ENSG00000164946:ENST00000380875:exon5:c.C516T:p.T172T,ENSG00000164946:ENST00000380881:exon5:c.C516T:p.T172T,ENSG00000164946:ENST00000422223:exon5:c.C516T:p.T172T NA NA 9p22.3 NA NA NA NA rs41265310 0.01 0.01 0.007 0.0121805 0.0179 NA 0.0058 NA 0.0399 0.02 NA 0.01 NA 0.0178 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364611 1.364611 NA 0.015591 0.004644 NA 0.08 NA 5.6153756 1090 11 95580926 95580926 G A exonic MTMR2 NA synonymous SNV MTMR2:NM_016156:exon10:c.C1131T:p.T377T,MTMR2:NM_201281:exon11:c.C915T:p.T305T,MTMR2:NM_201278:exon12:c.C915T:p.T305T,MTMR2:NM_001243571:exon13:c.C915T:p.T305T exonic ENSG00000087053 NA synonymous SNV ENSG00000087053:ENST00000346299:exon10:c.C1131T:p.T377T,ENSG00000087053:ENST00000352297:exon11:c.C915T:p.T305T,ENSG00000087053:ENST00000444541:exon11:c.C915T:p.T305T,ENSG00000087053:ENST00000393223:exon12:c.C915T:p.T305T,ENSG00000087053:ENST00000409459:exon12:c.C915T:p.T305T Score=605;Name=lod=383 NA 11q21 NA NA NA NA rs566204 0.27 0.27 0.278 0.209265 0.3708 0.253 0.2378 0.0923 0.136 0.37 0.28 0.28 0.09 0.298 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935514 NA NA 0.38262 0.132894 NA 0.246 NA 5.6152466 1091 1 17087365 17087365 C G exonic MST1L NA synonymous SNV MST1L:NM_001271733:exon3:c.G219C:p.A73A ncRNA_exonic ENSG00000186715 NA NA NA Score=563;Name=lod=259 NA 1p36.13 NA NA NA NA rs2446556 NA NA 0.61 NA NA NA NA NA NA NA NA NA NA 0.5517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138609 NA NA NA NA NA NA NA 5.6149666 1091 3 129810128 129810128 G A exonic ALG1L2 NA synonymous SNV ALG1L2:NM_001136152:exon2:c.G45A:p.P15P ncRNA_exonic ENSG00000251287 NA NA NA Score=477;Name=lod=116 NA 3q22.1 NA NA NA NA rs6804080 0.19 0.19 0.18 0.189497 0.3032 0.004 0.1758 0.2595 0.1789 0.31 0.0017 0.19 0.23 0.2487 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194168 NA NA NA NA NA 0.21 NA 5.6147666 1091 17 38546274 38546274 A C exonic TOP2A NA synonymous SNV TOP2A:NM_001067:exon34:c.T4410G:p.T1470T exonic ENSG00000131747 NA synonymous SNV ENSG00000131747:ENST00000423485:exon34:c.T4410G:p.T1470T NA NA 17q21.2 NA NA NA NA rs17680289 0.01 0.01 0.007 0.00678914 0.0209 NA 0.0101 0.0015 0.0041 0.02 NA 0.01 0.0041 0.0116 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.87145 NA NA 0.019762 0.003412 NA NA NA 5.6144046 1091 1 74575182 74575182 C T exonic LRRIQ3 NA nonsynonymous SNV LRRIQ3:NM_001105659:exon5:c.G763A:p.A255T exonic ENSG00000162620 NA nonsynonymous SNV ENSG00000162620:ENST00000370909:exon4:c.G439A:p.A147T,ENSG00000162620:ENST00000395089:exon4:c.G763A:p.A255T,ENSG00000162620:ENST00000354431:exon5:c.G763A:p.A255T,ENSG00000162620:ENST00000415760:exon5:c.G763A:p.A255T NA NA 1p31.1 NA NA NA NA rs1340472 0.84 0.84 0.808 0.804912 0.9085 0.9573 0.8876 0.5053 0.8875 0.91 0.98 0.89 0.54 0.8853 0.98 1 T 0.0 B 0.0 B . . 1.000 P -1.61 N 3.23 T -0.974 T 0.004 T 0.015 -1.38 0.025 -1.36 -0.586 -1.765 2.849 -1.380176 NA 0.2 0.925136 0.590223 NA 0.442 NA 5.6143974 1091 3 132120189 132120189 T C intergenic ACPP,DNAJC13 dist=33043;dist=16364 NA NA ncRNA_exonic ENSG00000213264 NA NA NA Score=698;Name=lod=913 NA 3q22.1 NA Name=EBF1_(C-8) NA NA rs6806003 0.56 0.56 0.546 0.601438 0.3867 0.5298 0.536 0.9123 0.5225 0.41 0.47 0.54 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198579 NA NA NA NA NA 0.601 NA 5.6133 1091 19 57828896 57828896 C T intergenic ZNF460,ZNF543 dist=23460;dist=2969 NA NA ncRNA_exonic ENSG00000268723 NA NA NA Score=688;Name=lod=832 NA 19q13.43 NA NA Name=8 NA rs11084495 0.43 0.43 0.392 0.413339 0.3867 0.4058 0.4784 0.4622 0.3364 0.39 0.45 0.46 0.44 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251699 NA NA NA NA NA 0.391 NA 5.6133 1091 3 49742584 49742584 G A exonic RNF123 NA synonymous SNV RNF123:NM_022064:exon23:c.G2127A:p.T709T exonic ENSG00000164068 NA synonymous SNV ENSG00000164068:ENST00000432042:exon20:c.G1689A:p.T563T,ENSG00000164068:ENST00000327697:exon23:c.G2127A:p.T709T,ENSG00000164068:ENST00000457726:exon23:c.G2127A:p.T709T NA NA 3p21.31 NA NA NA NA rs34539806 0.01 0.01 0.005 0.00439297 0.0149 NA 0.0014 0.0008 0.0051 0.02 NA 0.01 NA 0.0227 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717164 NA NA 0.016167 0.002736 NA NA NA 5.6128996 1091 3 101231895 101231895 A T intronic SENP7 NA NA NA intronic ENSG00000138468 NA NA NA NA NA 3q12.3 NA Name=AP-2gamma,Sin3Ak-20,YY1_(C-20),Pol2,Egr-1,YY1 Name=148 NA rs9682156 0.2 0.2 NA 0.231629 0.17 0.3423 0.3746 0.1407 0.2025 0.14 0.31 0.3 0.09 0.2175 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.727699 1.727699 NA NA NA ID=COSN166957;OCCURENCE=1(breast),1(large_intestine),3(endometrium) NA NA 5.6125 1091 3 101231894 101231894 T G intronic SENP7 NA NA NA intronic ENSG00000138468 NA NA NA NA NA 3q12.3 NA Name=Sin3Ak-20,YY1_(C-20),Pol2,Egr-1,AP-2gamma Name=148 NA rs9682312 NA NA NA 0.23143 0.17 0.3423 0.3732 0.1407 0.2025 NA NA NA NA 0.2176 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657396 NA NA NA NA ID=COSN166956;OCCURENCE=1(large_intestine) NA NA 5.6124 1091 12 6645565 6645565 T C intronic GAPDH NA NA NA intronic ENSG00000111640 NA NA NA NA NA 12p13.31 NA Name=Pol2-4H8,Pol2(b),Pol2 Name=24 NA rs2886093 0.48 0.48 0.457 0.502196 0.3877 0.5605 0.4078 0.5832 0.5174 0.4 0.56 0.41 0.55 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190119 NA NA NA NA NA 0.493 NA 5.6123 1091 1 120054250 120054250 T A exonic HSD3B1 NA synonymous SNV HSD3B1:NM_000862:exon3:c.T270A:p.G90G exonic ENSG00000203857 NA synonymous SNV ENSG00000203857:ENST00000528909:exon2:c.T270A:p.G90G,ENSG00000203857:ENST00000235547:exon3:c.T276A:p.G92G,ENSG00000203857:ENST00000369413:exon3:c.T270A:p.G90G NA NA 1p12 NA NA NA NA rs6202 0.1 0.1 0.09 0.128794 0.005 0.0546 0.0677 0.357 0.0675 0.0013 0.04 0.06 0.35 0.046 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090687 NA NA 0.003488 0.295279 NA 0.109 NA 5.6121786 1091 5 142254679 142254679 A G exonic ARHGAP26 NA synonymous SNV ARHGAP26:NM_001135608:exon3:c.A255G:p.R85R,ARHGAP26:NM_015071:exon3:c.A255G:p.R85R exonic ENSG00000145819 NA synonymous SNV ENSG00000145819:ENST00000274498:exon3:c.A255G:p.R85R,ENSG00000145819:ENST00000378004:exon3:c.A255G:p.R85R,ENSG00000145819:ENST00000378013:exon3:c.A171G:p.R57R Score=604;Name=lod=379 NA 5q31.3 NA NA NA NA rs185200 0.6 0.6 0.636 0.673722 0.3091 0.8581 0.5058 0.8979 0.6748 0.32 0.86 0.43 0.88 0.4468 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228968 NA NA 0.298721 0.780754 NA 0.536 NA 5.6120456 1091 6 32797537 32797537 T G intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA Name=ZNF263 Name=3 NA rs241439 0.4 0.4 0.383 0.423722 0.3887 0.5298 0.4035 0.3011 0.5307 0.38 0.52 0.39 0.29 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120038 NA NA NA NA NA 0.304 NA 5.6113 1091 12 31815233 31815233 C T intronic METTL20 NA NA NA intronic ENSG00000139160 NA NA NA NA NA 12p11.21 NA Name=PU.1 Name=6 NA rs56228550 0.09 0.09 0.073 0.086861 0.1392 0.1131 0.1239 0.0053 0.09 0.13 0.1 0.1 0.01 0.121 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239225 NA NA 0.129186 0.024512 NA 0.152 NA 5.610614 1091 3 58186719 58186719 C A intronic DNASE1L3 NA NA NA intronic ENSG00000163687 NA NA NA NA NA 3p14.3 NA Name=EBF,NFKB Name=12 NA rs3772985 0.21 0.21 0.217 0.221246 0.1193 0.2946 0.183 0.289 0.1861 0.13 0.3 0.16 0.28 0.1603 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103011 NA NA 0.109884 0.256015 NA 0.232 NA 5.610516 1091 19 17316253 17316253 T C intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCFL_(SC-98982),CTCF_(C-20),CTCF_(SC-5916),ZNF263 Name=124 NA rs2305763 0.6 0.6 0.561 0.629792 0.3897 0.746 0.6772 0.708 0.6176 0.4 0.77 0.64 0.67 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08657 NA NA NA NA NA 0.652 NA 5.6103 1091 14 77951143 77951143 T C exonic ISM2 NA synonymous SNV ISM2:NM_182509:exon2:c.A261G:p.A87A,ISM2:NM_199296:exon2:c.A261G:p.A87A exonic ENSG00000100593 NA synonymous SNV ENSG00000100593:ENST00000342219:exon2:c.A261G:p.A87A,ENSG00000100593:ENST00000412904:exon2:c.A261G:p.A87A,ENSG00000100593:ENST00000493585:exon2:c.A261G:p.A87A,ENSG00000100593:ENST00000554801:exon2:c.A261G:p.A87A NA NA 14q24.3 NA NA NA NA rs77534020 0.01 0.01 0.007 0.0091853 0.0199 NA 0.0072 NA 0.0215 0.02 NA 0.01 0.01 0.0166 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236842 NA NA 0.019884 0.004993 NA NA NA 5.6102826 1091 6 96999725 96999725 C T exonic UFL1 NA synonymous SNV UFL1:NM_015323:exon17:c.C1911T:p.D637D exonic ENSG00000014123 NA synonymous SNV ENSG00000014123:ENST00000369278:exon17:c.C1911T:p.D637D Score=604;Name=lod=380 NA 6q16.1 NA NA NA NA rs1127175 0.33 0.33 0.329 0.326677 0.3698 0.3075 0.2911 0.326 0.3282 0.36 0.3 0.35 0.33 0.3383 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570734 NA NA 0.348534 0.333787 ID=COSM451949;OCCURENCE=1(breast),1(pancreas) 0.362 NA 5.6100326 1091 12 6143984 6143984 T C exonic VWF NA nonsynonymous SNV VWF:NM_000552:exon20:c.A2555G:p.Q852R exonic ENSG00000110799 NA nonsynonymous SNV ENSG00000110799:ENST00000261405:exon20:c.A2555G:p.Q852R Score=500;Name=lod=143 NA 12p13.31 NA NA NA NA rs216321 0.9 0.9 0.887 0.896965 0.9135 0.7907 0.9265 0.9584 0.8855 0.91 0.79 0.93 0.97 0.8992 0.97 1 T 0.0 B 0.0 B 0.182 N 0.000 P -0.04 N -0.09 T -0.939 T 0.000 T 0.043 0.022 4.126 0.423 -0.099 -0.541 10.041 0.021663 NA 1 0.910698 0.949614 NA 0.949 NA 5.6099354 1091 6 30887988 30887988 C T exonic VARS2 NA synonymous SNV VARS2:NM_001167733:exon12:c.C868T:p.L290L,VARS2:NM_001167734:exon13:c.C1378T:p.L460L,VARS2:NM_020442:exon13:c.C1288T:p.L430L exonic ENSG00000137411 NA synonymous SNV ENSG00000137411:ENST00000321897:exon12:c.C1288T:p.L430L,ENSG00000137411:ENST00000542001:exon12:c.C868T:p.L290L,ENSG00000137411:ENST00000416670:exon13:c.C1288T:p.L430L,ENSG00000137411:ENST00000541562:exon13:c.C1378T:p.L460L Score=417;Name=lod=66 NA 6p21.33 NA NA NA NA rs2249459 0.24 0.24 0.248 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3247 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123204 NA NA 0.376892 0.146592 NA 0.283 NA 5.6091746 1091 5 74063154 74063154 C G UTR5 NSA2 NM_001271665:c.-32C>G,NM_014886:c.-32C>G NA NA UTR5 ENSG00000164346,ENSG00000164347 ENST00000296802:c.-32C>G;ENST00000296805:c.-3587G>C NA NA NA NA 5q13.3 Score=802;Name=V$PAX5_01 Name=ETS1,GATA-1,TAF1,GABP,Mxi1_(bHLH),Pol2,Egr-1,TCF4,Pol2(phosphoS2),Sin3Ak-20,YY1_(C-20),Pol2-4H8,ZNF263,KAP1,ZBTB7A_(SC-34508),NFKB,HEY1,p300,TBP,CHD2_(N-1250) NA NA rs1043968 0.33 0.33 0.313 0.344249 0.2425 0.2063 0.3256 0.6142 0.2393 0.22 0.19 0.36 0.63 0.261 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406358 NA NA 0.220787 0.5575 NA 0.442 NA 5.6090464 1091 19 12089549 12089549 T C exonic ZNF763 NA synonymous SNV ZNF763:NM_001012753:exon4:c.T819C:p.S273S exonic ENSG00000197054,ENSG00000267179 NA synonymous SNV ENSG00000197054:ENST00000545530:exon2:c.T444C:p.S148S,ENSG00000197054:ENST00000343949:exon4:c.T819C:p.S273S,ENSG00000197054:ENST00000358987:exon4:c.T810C:p.S270S,ENSG00000197054:ENST00000538752:exon4:c.T870C:p.S290S,ENSG00000267179:ENST00000590798:exon4:c.T870C:p.S290S NA NA 19p13.2 NA NA NA NA rs7254258 0.02 0.02 0.017 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 0.0167 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430805 NA NA 0.018032 0.028057 NA 0.014 NA 5.6090346 1091 20 13695680 13695680 C T exonic ESF1 NA synonymous SNV ESF1:NM_001276380:exon14:c.G2397A:p.R799R,ESF1:NM_016649:exon14:c.G2397A:p.R799R exonic ENSG00000089048 NA synonymous SNV ENSG00000089048:ENST00000202816:exon14:c.G2397A:p.R799R Score=374;Name=lod=44 NA 20p12.1 NA NA NA NA rs6110019 0.27 0.27 0.266 0.241214 0.3777 0.2143 0.2911 0.1362 0.2352 0.37 0.25 0.31 0.12 0.31 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211576 NA NA 0.370465 0.15842 NA 0.297 NA 5.6085016 1091 19 610243 610243 C G intronic HCN2 NA NA NA intronic ENSG00000099822 NA NA NA NA NA 19p13.3 NA Name=ERalpha_a Name=26 NA rs34104611 0.1 0.1 0.088 0.127596 0.1233 0.0109 0.2032 0.1551 0.1616 0.12 0.01 0.17 0.12 0.1309 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.151522 NA NA 0.137326 0.143214 NA 0.123 NA 5.608474 1091 19 39306425 39306425 A C intronic ECH1 NA NA NA intronic ENSG00000104823 NA NA NA NA NA 19q13.2 NA Name=c-Fos,NF-YB,SP1 Name=4 NA rs2075588 0.49 0.49 0.491 0.556709 0.3917 0.381 0.5821 0.7874 0.5777 0.37 0.33 0.57 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419395 NA NA NA NA ID=COSN165810;OCCURENCE=1(breast) 0.529 NA 5.6083 1091 1 157062696 157062696 G T exonic ETV3L NA synonymous SNV ETV3L:NM_001004341:exon5:c.C831A:p.L277L exonic ENSG00000253831 NA synonymous SNV ENSG00000253831:ENST00000454449:exon5:c.C831A:p.L277L NA NA 1q23.1 NA NA Name=35 NA rs1176537 0.26 0.26 0.264 0.223842 0.3728 0.2381 0.2637 0.0908 0.2076 0.38 0.24 0.31 0.07 0.31 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018724 NA NA 0.375698 0.139128 ID=COSM1162576;OCCURENCE=1(pancreas),1(prostate) 0.312 NA 5.6081686 1091 6 167570528 167570528 C T exonic GPR31 NA synonymous SNV GPR31:NM_005299:exon1:c.G792A:p.S264S exonic ENSG00000120436 NA synonymous SNV ENSG00000120436:ENST00000366834:exon1:c.G792A:p.S264S NA NA 6q27 NA NA NA NA rs35182330 0.01 0.01 0.006 0.00978435 0.0209 NA 0.0043 0.0023 0.0225 0.02 NA 0.01 0.0041 0.0166 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.249755 NA NA 0.021047 0.006355 NA 0.007 NA 5.6081196 1091 6 30000687 30000687 T C ncRNA_intronic ZNRD1-AS1 NA NA NA ncRNA_exonic ENSG00000232757 NA NA NA Score=769;Name=lod=1775 NA 6p22.1 NA NA NA NA rs16896923 0.07 0.07 0.053 0.0848642 0.0586 0.1925 0.0317 0.0008 0.1524 0.06 0.16 0.04 0.002 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240676 NA NA NA NA NA 0.087 NA 5.6080666 1091 16 9935066 9935066 T G intronic GRIN2A NA NA NA intronic ENSG00000183454 NA NA NA NA NA 16p13.2 NA Name=BATF,BCL11A,PU.1 Name=8 NA rs6497540 0.3 0.3 0.297 0.298922 0.3926 0.0784 0.2795 0.4629 0.2219 0.39 0.06 0.34 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26115 NA NA NA NA NA 0.377 NA 5.6074 1091 7 5024540 5024540 G A ncRNA_splicing RNF216P1 NR_015449:exon4:c.417-1G>A,NR_023385:exon4:c.417-1G>A,NR_023384:exon4:c.417-1G>A NA NA ncRNA_exonic ENSG00000196204 NA NA NA Score=616;Name=lod=427 NA 7p22.1 NA NA NA NA rs9689983 0.08 0.08 0.065 0.0634984 0.0596 0.1071 0.1354 0.0159 0.0358 0.05 0.11 0.14 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887279 NA NA NA NA NA 0.051 NA 5.6070666 1091 5 148406386 148406386 T C intronic SH3TC2 NA NA NA exonic ENSG00000169247 NA nonsynonymous SNV ENSG00000169247:ENST00000394358:exon12:c.A2564G:p.K855R NA NA 5q32 NA NA NA NA rs17722209 0.17 0.17 0.158 0.163738 0.1789 0.2024 0.1715 0.0666 0.2342 0.2 0.24 0.16 0.08 0.1921 0.24 0.85 T 0.004 B 0.005 B . . 1.000 P . . -0.72 T -1.089 T 0.000 T 0.022 -0.156 3.238 -1.9 -0.355 0.357 0.812 -0.155925 NA 0 0.188721 0.078756 ID=COSM149981;OCCURENCE=1(stomach) 0.094 NA 5.6069457 1091 12 9574042 9574042 C A ncRNA_exonic DDX12P NA NA NA ncRNA_exonic ENSG00000214826 NA NA NA Score=569;Name=lod=273 NA 12p13.31 Score=979;Name=V$AP2REP_01 NA NA NA rs7298124 0.49 0.49 0.451 0.473642 0.5308 0.5655 0.572 0.298 0.4877 0.53 0.53 0.51 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377303 NA 0.03 0.529227 0.321532 ID=COSM469096;OCCURENCE=1(kidney) 0.101 NA 5.6066396 1091 3 184049143 184049143 C T exonic EIF4G1 NA synonymous SNV EIF4G1:NM_004953:exon22:c.C3666T:p.V1222V,EIF4G1:NM_198242:exon25:c.C3759T:p.V1253V,EIF4G1:NM_198244:exon26:c.C3990T:p.V1330V,EIF4G1:NM_182917:exon28:c.C4254T:p.V1418V,EIF4G1:NM_001194947:exon29:c.C4272T:p.V1424V,EIF4G1:NM_198241:exon29:c.C4251T:p.V1417V,EIF4G1:NM_001194946:exon30:c.C4272T:p.V1424V exonic ENSG00000114867 NA synonymous SNV ENSG00000114867:ENST00000434061:exon22:c.C3666T:p.V1222V,ENSG00000114867:ENST00000435046:exon22:c.C3663T:p.V1221V,ENSG00000114867:ENST00000441154:exon23:c.C3762T:p.V1254V,ENSG00000114867:ENST00000350481:exon25:c.C3759T:p.V1253V,ENSG00000114867:ENST00000392537:exon26:c.C3990T:p.V1330V,ENSG00000114867:ENST00000411531:exon26:c.C4134T:p.V1378V,ENSG00000114867:ENST00000427845:exon26:c.C3993T:p.V1331V,ENSG00000114867:ENST00000319274:exon28:c.C4251T:p.V1417V,ENSG00000114867:ENST00000342981:exon28:c.C4254T:p.V1418V,ENSG00000114867:ENST00000424196:exon28:c.C4272T:p.V1424V,ENSG00000114867:ENST00000346169:exon29:c.C4251T:p.V1417V,ENSG00000114867:ENST00000352767:exon29:c.C4272T:p.V1424V,ENSG00000114867:ENST00000414031:exon29:c.C4131T:p.V1377V,ENSG00000114867:ENST00000382330:exon30:c.C4272T:p.V1424V NA NA 3q27.1 NA NA NA NA rs76779558 0.01 0.01 0.014 0.0141773 0.0159 0.0179 0.0086 0.0008 0.0307 0.02 0.03 0.01 NA 0.0191 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.510337 NA NA 0.025116 0.004993 NA NA NA 5.6065506 1091 20 25666807 25666807 C G intronic ZNF337 NA NA NA intronic ENSG00000130684 NA NA NA NA NA 20p11.1 NA Name=CTCF Name=9 NA rs926486 0.24 0.24 0.246 0.29992 0.1133 0.0863 0.2752 0.6679 0.2321 0.12 0.07 0.26 0.62 0.1817 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504807 NA NA 0.098953 0.566046 NA 0.283 NA 5.606047 1091 8 29207845 29207845 C T UTR5 DUSP4 NM_001394:c.-50G>A NA NA UTR5 ENSG00000120875 ENST00000240100:c.-50G>A NA NA NA NA 8p12 NA Name=Pol2-4H8,ZNF263,HA-E2F1,YY1_(C-20) Name=147 NA rs3182143 0.31 0.31 0.227 0.298922 0.2356 0.6141 0.3847 0.0575 0.3047 0.25 0.6 0.33 0.07 0.2979 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05177 NA NA 0.193908 0.068501 NA 0.174 NA 5.6059254 1091 3 113594377 113594377 A G exonic GRAMD1C NA synonymous SNV GRAMD1C:NM_017577:exon4:c.A306G:p.L102L exonic ENSG00000178075 NA synonymous SNV ENSG00000178075:ENST00000358160:exon4:c.A306G:p.L102L,ENSG00000178075:ENST00000472384:exon4:c.A306G:p.L102L NA NA 3q13.31 Score=805;Name=V$CEBP_C NA NA NA rs13079383 0.29 0.29 0.251 0.242212 0.3638 0.2738 0.3314 0.0651 0.2607 0.36 0.31 0.35 0.09 0.324 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.215223 NA NA 0.373372 0.106673 NA 0.297 NA 5.6054946 1092 4 166199812 166199812 A G ncRNA_exonic GK3P NA NA NA ncRNA_exonic ENSG00000229894 NA NA NA Score=786;Name=lod=2087 NA 4q32.3 NA NA NA NA rs56919208 0.08 0.08 0.061 0.0946486 0.0189 0.0506 0.0389 0.2761 0.0123 0.02 0.04 0.04 0.23 0.043 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.92551 1.92551 0.07 NA NA NA 0.007 NA 5.6047666 1092 2 54858154 54858154 C T exonic SPTBN1 NA synonymous SNV SPTBN1:NM_178313:exon15:c.C2931T:p.G977G,SPTBN1:NM_003128:exon16:c.C2970T:p.G990G exonic ENSG00000115306 NA synonymous SNV ENSG00000115306:ENST00000333896:exon15:c.C2931T:p.G977G,ENSG00000115306:ENST00000356805:exon16:c.C2970T:p.G990G NA NA 2p16.2 NA NA NA NA rs61732872 0.01 0.01 0.009 0.00738818 0.0239 NA 0.0144 NA 0.0031 0.02 NA 0.02 NA 0.0153 0.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389472 NA NA 0.022791 0.003858 NA NA NA 5.6046756 1092 9 100367810 100367810 G A exonic TSTD2 NA synonymous SNV TSTD2:NM_139246:exon8:c.C1068T:p.T356T exonic ENSG00000136925 NA synonymous SNV ENSG00000136925:ENST00000375165:exon5:c.C288T:p.T96T,ENSG00000136925:ENST00000354801:exon6:c.C288T:p.T96T,ENSG00000136925:ENST00000341170:exon8:c.C1068T:p.T356T,ENSG00000136925:ENST00000375172:exon8:c.C390T:p.T130T NA NA 9q22.33 NA NA NA NA rs1928641 0.13 0.13 0.124 0.16873 0.002 0.1508 0.1628 0.4191 0.0245 NA 0.11 0.1 0.35 0.0581 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.171652 NA NA 0.002093 0.369042 NA 0.109 NA 5.6044736 1092 19 9578459 9578459 C T exonic ZNF560 NA synonymous SNV ZNF560:NM_152476:exon10:c.G1164A:p.P388P exonic ENSG00000198028 NA synonymous SNV ENSG00000198028:ENST00000301480:exon10:c.G1164A:p.P388P NA NA 19p13.2 NA NA NA NA rs16980696 0.04 0.04 0.046 0.0513179 0.0229 0.006 0.0101 0.1672 NA 0.03 0.0035 0.01 0.14 0.0241 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772196 NA NA 0.015233 0.135724 NA 0.094 NA 5.6044336 1092 9 100420976 100420976 G A exonic NCBP1 NA synonymous SNV NCBP1:NM_002486:exon15:c.G1428A:p.L476L exonic ENSG00000136937 NA synonymous SNV ENSG00000136937:ENST00000375147:exon15:c.G1428A:p.L476L NA NA 9q22.33 NA NA NA NA rs2297155 0.13 0.13 0.127 0.16853 0.002 0.1498 0.1628 0.4191 0.0245 NA 0.11 0.1 0.35 0.0583 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857259 NA NA 0.001977 0.369042 NA 0.109 NA 5.6043896 1092 15 99799474 99799474 C T ncRNA_exonic HSP90B2P NA NA NA ncRNA_exonic ENSG00000259706 NA NA NA Score=872;Name=lod=4651 NA 15q26.3 NA NA NA NA rs62023769 0.09 0.09 0.107 0.0754792 0.0626 0.1022 0.0663 0.1044 0.0286 0.07 0.13 0.06 0.11 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124959 NA NA NA NA NA 0.051 NA 5.6040666 1092 12 121605189 121605189 C T intronic P2RX7 NA NA NA intronic ENSG00000089041 NA NA NA NA NA 12q24.31 NA Name=CEBPB Name=37 NA rs504677 0.28 0.28 0.27 0.291134 0.3966 0.1409 0.2017 0.3048 0.3824 0.4 0.12 0.21 0.31 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033827 NA NA NA NA NA 0.341 NA 5.6034 1092 17 56344656 56344656 A G intronic LPO NA NA NA intronic ENSG00000167419 NA NA NA NA NA 17q22 NA Name=Pol2 Name=2 NA rs8178407 0.43 0.43 0.463 0.469449 0.3966 0.244 0.2867 0.8427 0.4018 0.39 0.23 0.3 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020701 NA NA NA NA NA 0.464 NA 5.6034 1092 16 69354682 69354682 C T intronic VPS4A NA NA NA intronic ENSG00000132612 NA NA NA NA NA 16q22.1 Score=878;Name=V$BACH2_01 Name=Pol2 NA NA rs17702834 0.09 0.09 0.068 0.0794728 0.1173 0.0417 0.0922 0.0567 0.1012 0.12 0.05 0.1 0.06 0.1516 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.290261 3.290261 NA 0.12784 0.065706 NA 0.123 NA 5.60326 1092 2 73717656 73717656 A G exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon10:c.A8567G:p.N2856S exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon9:c.A8441G:p.N2814S,ENSG00000116127:ENST00000264448:exon10:c.A8567G:p.N2856S NA NA 2p13.1 NA NA NA NA rs10193972 0.33 0.33 0.348 0.358227 0.2266 0.0089 0.3905 0.8578 0.1554 0.23 0.01 0.35 0.85 0.2661 0.85 0.51 T 0.0 B 0.0 B . . 1.000 P -0.69 N 3.29 T -1.092 T 0.000 T 0.008 -0.487 1.761 0.225 -0.690 -0.691 . -0.48686 NA 0.06 0.237497 0.724511 NA 0.42 NA 5.6031364 1092 6 30919701 30919701 T C exonic DPCR1 NA synonymous SNV DPCR1:NM_080870:exon2:c.T3460C:p.L1154L exonic ENSG00000168631 NA synonymous SNV ENSG00000168631:ENST00000462446:exon2:c.T3460C:p.L1154L NA NA 6p21.33 NA Name=NFKB NA NA rs2517449 0.25 0.25 0.247 0.235024 0.3579 0.2688 0.2133 0.0983 0.274 0.35 0.31 0.21 0.06 0.3313 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381946 NA NA 0.375 0.141398 NA 0.29 NA 5.6024666 1092 14 23443962 23443962 T C intronic AJUBA NA NA NA intronic ENSG00000129474,ENSG00000259132 NA NA NA Score=251;Name=lod=14 NA 14q11.2 NA NA Name=35 NA rs941721 0.4 0.4 0.385 0.383187 0.3976 0.1964 0.3487 0.652 0.2219 0.39 0.22 0.36 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212912 NA NA NA NA NA 0.435 NA 5.6024 1092 19 50140092 50140092 G A exonic RRAS NA synonymous SNV RRAS:NM_006270:exon3:c.C333T:p.N111N exonic ENSG00000126458 NA synonymous SNV ENSG00000126458:ENST00000246792:exon3:c.C333T:p.N111N Score=517;Name=lod=168 NA 19q13.33 NA NA Name=3 NA rs1865077 0.77 0.77 0.749 0.738219 0.6978 0.8343 0.7954 0.7799 0.5838 0.7 0.86 0.75 0.78 0.7034 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080678 NA NA 0.663256 0.762369 NA 0.783 NA 5.6022106 1092 17 73513619 73513619 C A intronic TSEN54 NA NA NA intronic ENSG00000182173 NA NA NA NA NA 17q25.1 NA Name=Pbx3,CTCF Name=43 NA rs56895494 0.1 0.1 0.102 0.0938498 0.1412 0.0298 0.0865 0.0998 0.1084 0.14 0.03 0.13 0.11 0.1194 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.019831 2.019831 NA 0.137674 0.121425 NA 0.188 NA 5.601726 1092 12 43860526 43860526 A G exonic ADAMTS20 NA synonymous SNV ADAMTS20:NM_025003:exon9:c.T1296C:p.P432P exonic ENSG00000173157 NA synonymous SNV ENSG00000173157:ENST00000389420:exon9:c.T1296C:p.P432P,ENSG00000173157:ENST00000553158:exon9:c.T1296C:p.P432P Score=536;Name=lod=201 NA 12q12 NA NA NA NA rs11182088 0.42 0.42 0.38 0.431709 0.3469 0.7629 0.3213 0.239 0.5164 0.34 0.77 0.3 0.25 0.3771 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607159 NA NA 0.341242 0.256241 NA 0.268 NA 5.6014246 1092 6 31122564 31122564 C G exonic CCHCR1 NA synonymous SNV CCHCR1:NM_001105563:exon4:c.G402C:p.L134L,CCHCR1:NM_001105564:exon4:c.G510C:p.L170L,CCHCR1:NM_019052:exon4:c.G243C:p.L81L exonic ENSG00000204536 NA synonymous SNV ENSG00000204536:ENST00000428174:exon3:c.G321C:p.L107L,ENSG00000204536:ENST00000513222:exon3:c.G165C:p.L55L,ENSG00000204536:ENST00000376266:exon4:c.G243C:p.L81L,ENSG00000204536:ENST00000396263:exon4:c.G243C:p.L81L,ENSG00000204536:ENST00000396268:exon4:c.G510C:p.L170L,ENSG00000204536:ENST00000426967:exon4:c.G537C:p.L179L,ENSG00000204536:ENST00000448141:exon4:c.G135C:p.L45L,ENSG00000204536:ENST00000448162:exon4:c.G243C:p.L81L,ENSG00000204536:ENST00000451521:exon4:c.G402C:p.L134L,ENSG00000204536:ENST00000502557:exon4:c.G243C:p.L81L,ENSG00000204536:ENST00000503420:exon4:c.G135C:p.L45L,ENSG00000204536:ENST00000503934:exon4:c.G243C:p.L81L,ENSG00000204536:ENST00000507751:exon4:c.G243C:p.L81L,ENSG00000204536:ENST00000508683:exon4:c.G135C:p.L45L,ENSG00000204536:ENST00000455279:exon5:c.G243C:p.L81L,ENSG00000204536:ENST00000507226:exon5:c.G243C:p.L81L,ENSG00000204536:ENST00000507829:exon5:c.G243C:p.L81L NA NA 6p21.33 NA NA NA NA rs144885162 0.01 0.01 0.005 0.0081869 0.0199 NA 0.0159 NA 0.0102 0.02 NA 0.02 0.002 0.0168 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973438 NA NA 0.028619 0.004645 NA 0.007 NA 5.6013476 1092 15 93567864 93567864 A C exonic CHD2 NA synonymous SNV CHD2:NM_001271:exon39:c.A5416C:p.R1806R exonic ENSG00000173575 NA synonymous SNV ENSG00000173575:ENST00000394196:exon39:c.A5416C:p.R1806R Score=504;Name=lod=149 NA 15q26.1 NA NA NA NA rs12906163 0.2 0.2 0.188 0.186502 0.3698 0.0575 0.2248 0.0855 0.2403 0.37 0.05 0.23 0.09 0.2946 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.351503 1.351503 NA 0.400972 0.125 NA 0.246 NA 5.6012946 1092 14 90767607 90767607 C T exonic NRDE2 NA synonymous SNV NRDE2:NM_017970:exon7:c.G1521A:p.V507V exonic ENSG00000119720 NA synonymous SNV ENSG00000119720:ENST00000554464:exon3:c.G258A:p.V86V,ENSG00000119720:ENST00000357904:exon5:c.G828A:p.V276V,ENSG00000119720:ENST00000354366:exon7:c.G1521A:p.V507V Score=325;Name=lod=28 NA 14q32.11 NA NA Name=8 NA rs3825661 0.69 0.69 0.669 0.676318 0.671 0.7976 0.6484 0.5673 0.7239 0.68 0.8 0.65 0.61 0.6969 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210936 NA NA 0.698023 0.595325 NA 0.674 NA 5.6007436 1092 6 32029226 32029226 A G exonic TNXB NA synonymous SNV TNXB:NM_019105:exon21:c.T7440C:p.Y2480Y exonic ENSG00000168477 NA synonymous SNV ENSG00000168477:ENST00000375244:exon21:c.T7440C:p.Y2480Y,ENSG00000168477:ENST00000375247:exon21:c.T7440C:p.Y2480Y Score=407;Name=lod=60 NA 6p21.33 Score=882;Name=V$AREB6_01 NA NA NA rs204887 0.63 0.63 0.62 0.639976 0.6938 0.6577 0.6643 0.4788 0.7669 0.7 0.63 0.64 0.5 0.6907 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467311 NA NA 0.682032 0.541893 ID=COSM1443500,COSM1443499;OCCURENCE=1(large_intestine) 0.688 NA 5.6001346 1092 9 90500405 90500405 A C exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.A1003C:p.T335P exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.A1003C:p.T335P NA NA 9q22.1 NA NA NA NA rs7850542 0.75 0.75 0.761 0.761781 0.5686 0.878 0.7205 0.9493 0.6166 0.57 0.87 0.71 0.94 0.6239 0.94 1 T 0.0 B 0.0 B 0.924 N 1.000 P -2.195 N 4.1 T -1.009 T 0.000 T 0.039 -1.796 0.01 0.534 0.071 -0.432 3.231 -1.79553 NA 1 0.541512 0.880617 NA 0.717 NA 5.5993214 1092 7 23164701 23164701 C T exonic KLHL7 NA synonymous SNV KLHL7:NM_001031710:exon4:c.C352T:p.L118L,KLHL7:NM_001172428:exon4:c.C352T:p.L118L,KLHL7:NM_018846:exon4:c.C208T:p.L70L exonic ENSG00000122550 NA synonymous SNV ENSG00000122550:ENST00000539124:exon3:c.C124T:p.L42L,ENSG00000122550:ENST00000322275:exon4:c.C352T:p.L118L,ENSG00000122550:ENST00000339077:exon4:c.C352T:p.L118L,ENSG00000122550:ENST00000409689:exon4:c.C208T:p.L70L,ENSG00000122550:ENST00000545443:exon4:c.C286T:p.L96L,ENSG00000122550:ENST00000322231:exon5:c.C286T:p.L96L,ENSG00000122550:ENST00000410047:exon5:c.C286T:p.L96L,ENSG00000122550:ENST00000545771:exon5:c.C286T:p.L96L Score=697;Name=lod=908 NA 7p15.3 NA NA NA NA rs15775 0.41 0.41 0.447 0.420327 0.3449 0.3462 0.3156 0.711 0.2556 0.33 0.32 0.35 0.71 0.3537 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963435 NA NA 0.369272 0.631758 NA 0.42 NA 5.5987946 1092 15 40313141 40313141 C T exonic EIF2AK4 NA synonymous SNV EIF2AK4:NM_001013703:exon31:c.C4215T:p.G1405G exonic ENSG00000128829 NA synonymous SNV ENSG00000128829:ENST00000382727:exon30:c.C4131T:p.G1377G,ENSG00000128829:ENST00000263791:exon31:c.C4215T:p.G1405G Score=582;Name=lod=309 NA 15q15.1 NA NA NA NA rs3207297 0.31 0.31 0.3 0.305112 0.3569 0.249 0.2939 0.292 0.3354 0.33 0.26 0.36 0.28 0.3459 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222934 NA NA 0.36521 0.335159 NA 0.413 NA 5.5986566 1092 22 26194045 26194045 T C exonic MYO18B NA synonymous SNV MYO18B:NM_032608:exon12:c.T2502C:p.G834G exonic ENSG00000133454 NA synonymous SNV ENSG00000133454:ENST00000335473:exon12:c.T2502C:p.G834G,ENSG00000133454:ENST00000407587:exon12:c.T2502C:p.G834G,ENSG00000133454:ENST00000536101:exon12:c.T2502C:p.G834G Score=300;Name=lod=22 NA 22q12.1 Score=756;Name=V$BRACH_01 NA NA NA rs738643 0.58 0.58 0.551 0.56889 0.6978 0.6647 0.6282 0.2655 0.7055 0.69 0.67 0.61 0.27 0.6636 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426068 NA NA 0.706717 0.353652 NA 0.529 NA 5.5985496 1092 20 55940426 55940426 G A exonic RAE1 NA synonymous SNV RAE1:NM_001015885:exon5:c.G303A:p.V101V,RAE1:NM_003610:exon5:c.G303A:p.V101V exonic ENSG00000101146 NA synonymous SNV ENSG00000101146:ENST00000371242:exon5:c.G303A:p.V101V,ENSG00000101146:ENST00000395840:exon5:c.G303A:p.V101V,ENSG00000101146:ENST00000395841:exon5:c.G303A:p.V101V,ENSG00000101146:ENST00000429339:exon5:c.G303A:p.V101V,ENSG00000101146:ENST00000492498:exon5:c.G303A:p.V101V,ENSG00000101146:ENST00000527947:exon5:c.G303A:p.V101V,ENSG00000101146:ENST00000411894:exon6:c.G303A:p.V101V NA NA 20q13.31 NA NA NA NA rs6099582 0.03 0.03 0.033 0.0321486 0.0219 NA 0.0144 0.084 0.0184 0.02 NA 0.02 0.08 0.0254 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.191623 NA NA 0.022442 0.087154 NA 0.072 NA 5.5969246 1092 21 9590334 9590334 C A intergenic NONE,MIR3648 dist=NONE;dist=235498 NA NA intergenic NONE,ENSG00000238411 dist=NONE;dist=92857 NA NA Score=417;Name=lod=66 NA 21p11.2 NA Name=SMC3_(ab9263),Rad21,CTCF,CTCF_(SC-5916) Name=7 NA rs66854923 0.77 0.77 0.773 0.860024 0.7366 0.8919 0.8184 0.966 0.8405 0.66 0.85 0.77 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532951 NA NA NA NA NA NA NA 5.5967334 1092 5 178770718 178770718 A G intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 Score=813;Name=V$STAT5A_02 NA Name=3 NA rs2271214 0.19 0.19 0.175 0.195487 0.1402 0.3115 0.147 0.1165 0.274 0.14 0.33 0.14 0.14 0.1602 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.005819 NA NA 0.103117 0.081638 NA 0.203 NA 5.596483 1092 1 21935467 21935467 G A intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=MafK_(SC-477),Pol2(b),MafF_(M8194),TAL1_(SC-12984),PU.1,NRSF,eGFP-JunD,ZBTB7A_(SC-34508),MafK_(ab50322),IRF1 Name=3 NA rs12130950 0.1 0.1 0.089 0.113818 0.1412 0.0347 0.0836 0.1142 0.1881 0.14 0.02 0.1 0.12 0.1285 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.845041 NA NA 0.133837 0.117794 NA 0.188 NA 5.596463 1092 20 55909085 55909085 T G exonic SPO11 NA synonymous SNV SPO11:NM_198265:exon4:c.T330G:p.T110T,SPO11:NM_012444:exon5:c.T444G:p.T148T exonic ENSG00000054796 NA synonymous SNV ENSG00000054796:ENST00000345868:exon4:c.T330G:p.T110T,ENSG00000054796:ENST00000371260:exon4:c.T330G:p.T110T,ENSG00000054796:ENST00000371263:exon5:c.T444G:p.T148T,ENSG00000054796:ENST00000418127:exon5:c.T378G:p.T126T NA NA 20q13.31 NA NA NA NA rs16980893 0.03 0.03 0.03 0.0319489 0.0219 NA 0.0144 0.0832 0.0184 0.02 NA 0.02 0.07 0.0259 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761772 NA NA 0.022463 0.084884 NA 0.087 NA 5.5964036 1092 17 25607721 25607721 C G intergenic NONE,MIR4522 dist=NONE;dist=13215 NA NA ncRNA_exonic ENSG00000213664 NA NA NA Score=701;Name=lod=944 NA 17q11.1 NA Name=MafK_(ab50322),eGFP-GATA2,STAT1 NA NA rs6505182 0.43 0.43 0.44 0.474241 0.4036 0.2569 0.3818 0.7012 0.5297 0.4 0.25 0.4 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117384 NA NA NA NA NA 0.507 NA 5.5964 1092 2 185802243 185802243 C A exonic ZNF804A NA nonsynonymous SNV ZNF804A:NM_194250:exon4:c.C2120A:p.T707K exonic ENSG00000170396 NA nonsynonymous SNV ENSG00000170396:ENST00000302277:exon4:c.C2120A:p.T707K NA NA 2q32.1 NA NA NA NA rs1366842 0.56 0.56 0.495 0.490016 0.5825 0.8383 0.6326 0.059 0.5174 0.61 0.86 0.61 0.08 0.5777 0.86 1 T 0.002 B 0.002 B 0.654 N 1.000 P 1.39 L 3.45 T -0.942 T 0.000 T 0.035 -0.891 0.457 1.86 0.065 0.066 5.764 -0.890751 NA 0.96 0.576735 0.1399 NA 0.457 NA 5.5963984 1092 2 131130678 131130678 T C intronic PTPN18 NA NA NA intronic ENSG00000072135 NA NA NA NA NA 2q21.1 NA Name=TAF1 Name=5 NA rs10189689 0.32 0.32 0.316 0.344649 0.2008 0.3214 0.2378 0.6324 0.2035 0.2 0.31 0.25 0.56 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855959 NA NA 0.203099 0.566008 NA 0.29 NA 5.596101 1092 16 28993049 28993049 A C intronic SPNS1 NA NA NA ncRNA_exonic ENSG00000261067 NA NA NA NA NA 16p11.2 NA Name=CTCF,Rad21,ELF1_(SC-631),SMC3_(ab9263),CTCFL_(SC-98982),ZBTB7A_(SC-34508),CTCF_(C-20),CTCF_(SC-5916) Name=31 NA rs6565300 0.81 0.81 0.872 0.823482 0.7376 0.9206 0.5461 0.9599 0.8241 0.73 0.91 0.64 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417028 NA NA NA NA NA 0.891 NA 5.5957333 1093 2 220414019 220414019 T C exonic TMEM198 NA synonymous SNV TMEM198:NM_001005209:exon4:c.T888C:p.P296P exonic ENSG00000188760 NA synonymous SNV ENSG00000188760:ENST00000373883:exon4:c.T888C:p.P296P,ENSG00000188760:ENST00000344458:exon5:c.T888C:p.P296P Score=581;Name=lod=307 NA 2q35 NA NA NA NA rs13023533 0.43 0.43 0.03 0.392372 0.4592 0.38 0.5231 0.4077 0.2229 0.47 0.4 0.47 0.39 0.4339 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.665136 1.665136 NA 0.178721 0.162506 ID=COSM442365,COSM442364;OCCURENCE=1(breast) 0.486 NA 5.5948456 1093 11 100909809 100909809 A G UTR3 PGR NM_001202474:c.*38T>C,NM_000926:c.*38T>C,NM_001271161:c.*38T>C,NM_001271162:c.*38T>C NA NA UTR3 ENSG00000082175 ENST00000325455:c.*38T>C,ENST00000534013:c.*38T>C NA NA Score=272;Name=lod=17 NA 11q22.1 Score=1000;Name=V$AML1_01 NA NA NA rs484389 0.29 0.29 0.293 0.261781 0.2535 0.2133 0.2651 0.413 0.1135 0.26 0.23 0.3 0.41 0.2407 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449133 NA NA 0.244292 0.368373 NA 0.362 NA 5.5948414 1093 14 24654489 24654489 T C exonic IPO4 NA synonymous SNV IPO4:NM_024658:exon14:c.A1308G:p.V436V exonic ENSG00000196497 NA synonymous SNV ENSG00000196497:ENST00000354464:exon14:c.A1308G:p.V436V,ENSG00000196497:ENST00000560155:exon14:c.A1308G:p.V436V Score=429;Name=lod=74 NA 14q12 NA NA NA NA rs2025258 0.46 0.46 0.482 0.461661 0.339 0.7897 0.2939 0.3782 0.4816 0.34 0.82 0.3 0.36 0.391 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096624 NA NA 0.341875 0.370546 NA 0.42 NA 5.5947916 1093 2 86707313 86707313 G A exonic KDM3A NA synonymous SNV KDM3A:NM_001146688:exon16:c.G2340A:p.P780P,KDM3A:NM_018433:exon16:c.G2340A:p.P780P exonic ENSG00000115548 NA synonymous SNV ENSG00000115548:ENST00000542128:exon14:c.G2184A:p.P728P,ENSG00000115548:ENST00000312912:exon16:c.G2340A:p.P780P,ENSG00000115548:ENST00000409064:exon16:c.G2340A:p.P780P,ENSG00000115548:ENST00000409556:exon17:c.G2340A:p.P780P NA NA 2p11.2 NA NA NA NA rs61748134 0.03 0.03 0.022 0.0273562 0.0278 0.0724 0.0216 0.0008 0.0204 0.03 0.05 0.02 NA 0.0205 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331456 NA NA 0.023953 0.004539 NA 0.022 NA 5.5944136 1093 15 64275645 64275645 G A intronic DAPK2 NA NA NA intronic ENSG00000035664 NA NA NA NA NA 15q22.31 NA Name=CTCF_(SC-5916),CTCF_(C-20),PU.1,SMC3_(ab9263),CTCF,EBF1_(C-8),Rad21 Name=32 NA rs55986634 0.2 0.2 0.169 0.162141 0.4056 0.0069 0.3818 0.0212 0.1063 0.4 0.0035 0.36 0.02 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773628 NA NA NA NA NA 0.094 NA 5.5944 1093 20 62520674 62520674 G T intronic TPD52L2 NA NA NA intronic ENSG00000101150 NA NA NA NA NA 20q13.33 NA Name=STAT3 Name=16 NA rs6010690 0.56 0.56 0.553 0.599641 0.4056 0.8304 0.5519 0.4955 0.7362 0.41 0.83 0.54 0.5 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292291 NA NA NA NA NA 0.529 NA 5.5944 1093 17 7318935 7318935 C T exonic NLGN2 NA synonymous SNV NLGN2:NM_020795:exon6:c.C1143T:p.G381G exonic ENSG00000169992 NA synonymous SNV ENSG00000169992:ENST00000302926:exon6:c.C1143T:p.G381G,ENSG00000169992:ENST00000575301:exon7:c.C1143T:p.G381G NA NA 17p13.1 Score=828;Name=V$COMP1_01 NA NA NA rs12947017 0.26 0.26 0.227 0.192292 0.3827 0.1835 0.2464 0.1036 0.0869 0.39 0.2 0.31 0.09 0.2983 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10708 NA NA 0.391395 0.150477 NA 0.21 NA 5.5942716 1093 14 106866675 106866675 C G intergenic LINC00226,LINC00221 dist=121709;dist=71780 NA NA exonic ENSG00000211958 NA nonsynonymous SNV ENSG00000211958:ENST00000390618:exon2:c.G79C:p.G27R Score=352;Name=lod=36 NA 14q32.33 NA NA NA NA rs76077658 NA NA 0.079 NA NA NA NA NA NA NA NA NA NA 0.174 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.229779 2.229779 0.01 0.065492 0.293042 NA NA NA 5.5938414 1093 1 226474132 226474132 G A exonic LIN9 NA synonymous SNV LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F exonic ENSG00000183814 NA synonymous SNV ENSG00000183814:ENST00000366801:exon5:c.C321T:p.F107F,ENSG00000183814:ENST00000460719:exon5:c.C354T:p.F118F,ENSG00000183814:ENST00000481685:exon5:c.C369T:p.F123F,ENSG00000183814:ENST00000328205:exon6:c.C474T:p.F158F,ENSG00000183814:ENST00000366808:exon6:c.C639T:p.F213F Score=483;Name=lod=123 NA 1q42.12 Score=854;Name=V$FREAC7_01 NA NA NA rs10799347 0.72 0.72 0.697 0.707468 0.6799 0.745 0.6657 0.7542 0.6636 0.71 0.75 0.66 0.73 0.707 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162472 NA NA 0.686017 0.740917 NA 0.659 NA 5.5937496 1093 20 62520671 62520671 T C intronic TPD52L2 NA NA NA intronic ENSG00000101150 NA NA NA NA NA 20q13.33 NA Name=STAT3 Name=16 NA rs6062569 0.55 0.55 0.524 0.586062 0.4066 0.8304 0.549 0.444 0.7372 0.41 0.83 0.54 0.43 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066508 NA NA NA NA NA 0.5 NA 5.5934 1093 14 45650813 45650813 G A intronic FANCM NA NA NA intronic ENSG00000187790 NA NA NA NA NA 14q21.2 NA Name=c-Fos Name=36 NA rs8020533 0.21 0.21 0.223 0.232029 0.1292 0.128 0.1729 0.4455 0.1984 0.14 0.13 0.16 0.46 0.1587 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.302612 2.302612 NA 0.118948 0.334696 NA 0.217 NA 5.593152 1093 17 9066001 9066001 C T intronic NTN1 NA NA NA intronic ENSG00000065320 NA NA NA NA NA 17p13.1 NA Name=CTCF Name=9 NA rs2072321 0.35 0.35 0.341 0.338259 0.4076 0.3532 0.3732 0.2935 0.2873 0.41 0.32 0.36 0.29 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297142 NA NA NA NA NA 0.326 NA 5.5924 1093 X 1713021 1713021 C T exonic AKAP17A NA synonymous SNV AKAP17A:NM_005088:exon2:c.C666T:p.R222R exonic ENSG00000197976 NA synonymous SNV ENSG00000197976:ENST00000313871:exon2:c.C666T:p.R222R,ENSG00000197976:ENST00000381261:exon2:c.C666T:p.R222R,ENSG00000197976:ENST00000474361:exon2:c.C666T:p.R222R Score=654;Name=lod=608 NA Xp22.33 NA NA NA NA rs6644621 0.57 0.57 0.60493 NA NA NA NA NA NA 0.58 0.55 0.52 0.58 0.5414 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.246718 NA NA 0.534218 0.554698 NA 0.659 NA 5.5910486 1093 11 102595492 102595492 G A exonic MMP8 NA nonsynonymous SNV MMP8:NM_002424:exon1:c.C95T:p.T32I exonic ENSG00000118113 NA nonsynonymous SNV ENSG00000118113:ENST00000236826:exon1:c.C95T:p.T32I,ENSG00000118113:ENST00000531168:exon1:c.C95T:p.T32I,ENSG00000118113:ENST00000532799:exon1:c.C95T:p.T32I,ENSG00000118113:ENST00000533258:exon1:c.C95T:p.T32I,ENSG00000118113:ENST00000528662:exon2:c.C95T:p.T32I NA NA 11q22.2 NA NA NA NA rs3765620 0.63 0.63 0.633 0.654353 0.5885 0.5774 0.5605 0.8147 0.6513 0.57 0.6 0.59 0.81 0.5972 0.81 0.26 T 0.0 B 0.001 B 0.174 N 1.000 P -0.43 N 1.29 T -0.944 T 0.000 T 0.245 1.428 10.71 0.964 -0.276 0.819 8.360 1.428057 1.428057 0.3 0.556874 0.751021 NA 0.609 NA 5.5907594 1093 2 62065851 62065851 C T intronic FAM161A NA NA NA intronic ENSG00000170264 NA NA NA Score=635;Name=lod=508 NA 2p15 NA NA Name=17 NA rs17513666 0.15 0.15 0.127 0.118211 0.2227 0.0863 0.1441 0.0469 0.1217 0.23 0.1 0.18 0.06 0.1866 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.503191 3.503191 NA NA NA NA 0.072 NA 5.5907 1093 19 1068734 1068734 T C exonic HMHA1 NA synonymous SNV HMHA1:NM_001258328:exon2:c.T460C:p.L154L,HMHA1:NM_012292:exon2:c.T412C:p.L138L exonic ENSG00000180448 NA synonymous SNV ENSG00000180448:ENST00000313093:exon2:c.T412C:p.L138L,ENSG00000180448:ENST00000539243:exon2:c.T460C:p.L154L,ENSG00000180448:ENST00000586866:exon2:c.T424C:p.L142L,ENSG00000180448:ENST00000587186:exon2:c.T427C:p.L143L,ENSG00000180448:ENST00000590214:exon2:c.T493C:p.L165L NA NA 19p13.3 NA NA Name=8 NA rs3764653 0.4 0.4 0.38 0.404752 0.3449 0.3611 0.3862 0.5265 0.3599 0.36 0.4 0.38 0.48 0.3822 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597356 NA NA 0.348929 0.509773 NA 0.319 NA 5.5906376 1093 2 73455600 73455600 C T exonic PRADC1 NA synonymous SNV PRADC1:NM_032319:exon5:c.G549A:p.P183P exonic ENSG00000135617 NA synonymous SNV ENSG00000135617:ENST00000258083:exon5:c.G549A:p.P183P NA NA 2p13.2 NA NA NA NA rs11559241 0.07 0.07 0.076 0.0712859 0.0268 NA 0.0447 0.2262 NA 0.02 NA 0.06 0.24 0.0313 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006327 NA NA 0.018256 0.186791 NA 0.123 NA 5.5903106 1093 11 56954846 56954846 C T exonic LRRC55 NA synonymous SNV LRRC55:NM_001005210:exon2:c.C918T:p.F306F exonic ENSG00000183908 NA synonymous SNV ENSG00000183908:ENST00000497933:exon2:c.C918T:p.F306F Score=492;Name=lod=133 NA 11q12.1 NA NA NA NA rs716745 0.26 0.26 0.266 0.241813 0.3817 0.1925 0.255 0.1422 0.274 0.37 0.2 0.27 0.13 0.3152 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.084701 NA NA 0.379772 0.179464 NA 0.297 NA 5.5899946 1093 1 17739586 17739586 G A exonic RCC2 NA synonymous SNV RCC2:NM_001136204:exon9:c.C1296T:p.I432I,RCC2:NM_018715:exon10:c.C1296T:p.I432I exonic ENSG00000179051 NA synonymous SNV ENSG00000179051:ENST00000375433:exon9:c.C1296T:p.I432I,ENSG00000179051:ENST00000375436:exon10:c.C1296T:p.I432I Score=616;Name=lod=424 NA 1p36.13 NA NA NA NA rs942457 0.32 0.32 0.313 0.330871 0.3688 0.1647 0.3689 0.3661 0.3885 0.38 0.17 0.38 0.37 0.3577 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.261115 1.261115 NA 0.351395 0.388107 NA 0.246 NA 5.5887716 1093 15 85721926 85721926 G A intergenic PDE8A,LOC642423 dist=39550;dist=25981 NA NA ncRNA_exonic ENSG00000259270 NA NA NA Score=300;Name=lod=22 NA 15q25.3 NA Name=HEY1 NA NA rs8030425 0.39 0.39 0.401 0.400559 0.4115 0.4077 0.2939 0.3517 0.5235 0.41 0.44 0.31 0.38 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235775 NA NA NA NA ID=COSN165031;OCCURENCE=1(breast) 0.326 NA 5.5885 1093 7 102462636 102462636 T C exonic FBXL13 NA synonymous SNV FBXL13:NM_001111038:exon18:c.A1734G:p.A578A,FBXL13:NM_145032:exon19:c.A1869G:p.A623A exonic ENSG00000161040 NA synonymous SNV ENSG00000161040:ENST00000379306:exon12:c.A1023G:p.A341A,ENSG00000161040:ENST00000456695:exon12:c.A1023G:p.A341A,ENSG00000161040:ENST00000379305:exon18:c.A1785G:p.A595A,ENSG00000161040:ENST00000379308:exon18:c.A1734G:p.A578A,ENSG00000161040:ENST00000393772:exon18:c.A1785G:p.A595A,ENSG00000161040:ENST00000455112:exon18:c.A1734G:p.A578A,ENSG00000161040:ENST00000313221:exon19:c.A1869G:p.A623A,ENSG00000161040:ENST00000436908:exon19:c.A1869G:p.A623A NA NA 7q22.1 NA Name=MafK_(ab50322) NA NA rs10279449 0.49 0.49 0.503 0.523363 0.3181 0.5744 0.3602 0.7451 0.498 0.34 0.58 0.37 0.73 0.4047 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810657 NA NA 0.355581 0.682025 NA 0.507 NA 5.5882856 1093 3 109128692 109128692 C T upstream FLJ25363 NA NA NA ncRNA_exonic ENSG00000230618 NA NA NA Score=691;Name=lod=860 NA 3q13.13 NA Name=CTCF NA NA rs808802 0.6 0.6 0.591 0.58726 0.5785 0.7837 0.5663 0.3949 0.6687 0.59 0.8 0.54 0.42 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244582 NA 0 NA NA NA 0.514 NA 5.5881666 1093 3 197348638 197348638 G A ncRNA_exonic LOC220729 NA NA NA ncRNA_exonic ENSG00000214135 NA NA NA Score=650;Name=lod=586 NA 3q29 NA NA NA NA rs11558292 0.06 0.06 0.06 0.0696885 0.0785 NA 0.036 0.1437 0.0562 0.08 NA 0.04 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.262345 NA NA NA NA NA 0.007 NA 5.5881666 1093 19 41350615 41350615 G A exonic CYP2A6 NA synonymous SNV CYP2A6:NM_000762:exon8:c.C1224T:p.P408P exonic ENSG00000255974 NA synonymous SNV ENSG00000255974:ENST00000301141:exon8:c.C1224T:p.P408P NA NA 19q13.2 NA NA NA NA rs28399462 0.05 0.05 0.039 0.0573083 0.0219 NA 0.0317 0.1762 0.0102 0.02 NA 0.05 0.15 0.0341 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.464183 NA NA 0.022558 0.153427 NA 0.051 NA 5.5881086 1093 1 27680292 27680292 A G exonic SYTL1 NA synonymous SNV SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E exonic ENSG00000142765 NA synonymous SNV ENSG00000142765:ENST00000543823:exon14:c.A1638G:p.E546E,ENSG00000142765:ENST00000318074:exon15:c.A1602G:p.E534E Score=409;Name=lod=61 NA 1p36.11 Score=737;Name=V$MYOGNF1_01 NA NA NA rs8533 0.54 0.54 0.576 0.546326 0.7247 0.2431 0.4813 0.6891 0.5286 0.71 0.26 0.49 0.63 0.6224 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787325 NA NA 0.73186 0.689514 NA 0.507 NA 5.5877066 1093 5 78610361 78610361 C T exonic JMY NA synonymous SNV JMY:NM_152405:exon9:c.C2346T:p.P782P exonic ENSG00000152409 NA synonymous SNV ENSG00000152409:ENST00000396137:exon9:c.C2346T:p.P782P NA NA 5q14.1 NA NA NA NA rs61751239 0.01 0.01 0.007 0.00938498 0.0298 NA 0.0202 0.0008 0.002 0.03 NA 0.02 0.002 0.0207 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031343 NA NA 0.028507 0.004181 NA NA NA 5.5876596 1093 14 54418411 54418411 G A intronic BMP4 NA NA NA intronic ENSG00000125378 NA NA NA NA NA 14q22.2 NA Name=TCF4 Name=50 NA rs2071047 0.41 0.41 0.421 0.410144 0.4125 0.3919 0.3847 0.3888 0.4734 0.41 0.42 0.41 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.389173 NA NA NA NA NA 0.428 NA 5.5875 1093 19 51297944 51297944 A G intronic ACPT NA NA NA intronic ENSG00000142513 NA NA NA NA NA 19q13.33 NA Name=Pol2(b),ZNF263,Pol2-4H8,YY1,NFKB,POU2F2,YY1_(C-20),Pol2,Pol2(phosphoS2),Oct-2,CHD2_(N-1250) Name=63 NA rs266123 0.57 0.57 0.55 0.551118 0.4125 0.7986 0.3415 0.6475 0.4571 0.43 0.82 0.38 0.63 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885522 NA NA NA NA NA 0.42 NA 5.5875 1093 22 22759044 22759044 T C intergenic LOC96610,ZNF280B dist=81720;dist=79728 NA NA ncRNA_exonic ENSG00000253818 NA NA NA NA NA 22q11.22 NA Name=PU.1,TCF12 Name=2 NA rs427322 0.4 0.4 0.388 0.431709 0.4125 0.2937 0.5576 0.4584 0.4683 0.41 0.28 0.5 0.45 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11681 NA NA NA NA NA 0.406 NA 5.5875 1093 1 43784956 43784956 A G exonic TIE1 NA synonymous SNV TIE1:NM_001253357:exon18:c.A2838G:p.L946L,TIE1:NM_005424:exon18:c.A2973G:p.L991L exonic ENSG00000066056 NA synonymous SNV ENSG00000066056:ENST00000433781:exon13:c.A1908G:p.L636L,ENSG00000066056:ENST00000372476:exon18:c.A2973G:p.L991L Score=566;Name=lod=267 NA 1p34.2 NA NA NA NA rs1199039 0.28 0.28 0.265 0.225839 0.3777 0.1478 0.3631 0.1815 0.1125 0.39 0.16 0.37 0.2 0.3112 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269031 1.269031 NA 0.390698 0.205175 NA 0.348 NA 5.5870686 1093 15 69238445 69238445 G A exonic SPESP1 NA nonsynonymous SNV SPESP1:NM_145658:exon2:c.G572A:p.G191E exonic ENSG00000258484 NA nonsynonymous SNV ENSG00000258484:ENST00000310673:exon2:c.G572A:p.G191E NA NA 15q23 NA NA NA NA rs3743093 0.56 0.56 0.575 0.534545 0.5905 0.4623 0.464 0.6399 0.4591 0.6 0.49 0.48 0.63 0.5491 0.63 1 T 0.0 B 0.0 B 0.647 N 1.000 P 0 N 2.09 T -0.925 T 0.000 T 0.012 -1.152 0.101 -0.354 -0.586 0.155 1.066 -1.152006 NA 1 0.606794 0.591364 NA 0.572 NA 5.5869394 1093 3 164785196 164785196 C T exonic SI NA synonymous SNV SI:NM_001041:exon6:c.G567A:p.L189L exonic ENSG00000090402 NA synonymous SNV ENSG00000090402:ENST00000264382:exon6:c.G567A:p.L189L NA NA 3q26.1 NA NA NA NA rs76463353 0.04 0.04 0.051 0.0613019 0.0239 0.0079 0.0288 0.1135 0.1074 0.02 0.01 0.04 0.12 0.0365 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.434309 NA NA 0.020126 0.098502 NA 0.065 NA 5.5861406 1093 17 51901385 51901385 C T exonic KIF2B NA synonymous SNV KIF2B:NM_032559:exon1:c.C991T:p.L331L exonic ENSG00000141200 NA synonymous SNV ENSG00000141200:ENST00000268919:exon1:c.C991T:p.L331L Score=395;Name=lod=54 NA 17q22 NA NA NA NA rs3803826 0.37 0.37 0.354 0.334465 0.3658 0.5863 0.4107 0.1074 0.2955 0.35 0.61 0.39 0.11 0.3572 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.734769 NA NA 0.357558 0.148888 NA 0.333 NA 5.5861086 1093 17 74006136 74006136 C T exonic EVPL NA synonymous SNV EVPL:NM_001988:exon22:c.G3150A:p.S1050S exonic ENSG00000167880 NA synonymous SNV ENSG00000167880:ENST00000301607:exon22:c.G3150A:p.S1050S,ENSG00000167880:ENST00000586740:exon22:c.G3216A:p.S1072S NA NA 17q25.1 NA NA NA NA rs1076871 0.01 0.01 0.019 0.0091853 0.0318 NA 0.0159 0.0008 0.002 0.03 NA 0.01 NA 0.0192 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.505867 NA NA 0.029767 0.00522 NA 0.065 NA 5.5858996 1093 19 55708475 55708475 G T intronic PTPRH NA NA NA intronic ENSG00000080031 NA NA NA NA NA 19q13.42 NA Name=ERalpha_a Name=26 NA rs2288522 0.11 0.11 0.116 0.111422 0.1491 0.129 0.0591 0.0492 0.1759 0.15 0.13 0.06 0.04 0.1299 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367389 NA NA 0.135465 0.061734 NA 0.109 NA 5.585535 1093 5 35904889 35904889 C A intronic CAPSL NA NA NA intronic ENSG00000152611 NA NA NA NA NA 5p13.2 NA Name=IRF4_(M-17) Name=7 NA rs1345827 0.31 0.31 0.308 0.30651 0.4145 0.0724 0.268 0.475 0.2362 0.42 0.06 0.31 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.725477 1.725477 NA NA NA NA 0.312 NA 5.5855 1093 1 14109114 14109114 A G exonic PRDM2 NA synonymous SNV PRDM2:NM_001007257:exon3:c.A4221G:p.S1407S,PRDM2:NM_012231:exon8:c.A4824G:p.S1608S,PRDM2:NM_015866:exon8:c.A4824G:p.S1608S exonic ENSG00000116731 NA synonymous SNV ENSG00000116731:ENST00000413440:exon3:c.A4221G:p.S1407S,ENSG00000116731:ENST00000343137:exon4:c.A4221G:p.S1407S,ENSG00000116731:ENST00000235372:exon8:c.A4824G:p.S1608S,ENSG00000116731:ENST00000311066:exon8:c.A4824G:p.S1608S Score=397;Name=lod=55 NA 1p36.21 NA NA NA NA rs1203651 0.36 0.36 0.307 0.365016 0.328 0.3988 0.5418 0.2322 0.4223 0.32 0.43 0.52 0.22 0.3881 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.051567 NA NA 0.365116 0.263958 NA 0.355 NA 5.5854506 1093 15 63349096 63349096 G A intronic TPM1 NA NA NA UTR5 ENSG00000140416 ENST00000558264:c.-2670G>A NA NA NA NA 15q22.2 NA Name=Pol2,Pol2-4H8 Name=49 NA rs4775613 0.5 0.5 0.483 0.475639 0.5815 0.5496 0.4006 0.3933 0.455 0.57 0.57 0.44 0.35 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803212 NA NA NA NA NA 0.464 NA 5.5851667 1094 3 150690566 150690566 T C ncRNA_exonic CLRN1-AS1 NA NA NA ncRNA_exonic ENSG00000239265 NA NA NA NA NA 3q25.1 NA Name=NRSF Name=6 NA rs3796240 0.48 0.48 0.451 0.469249 0.5318 0.4365 0.5793 0.3313 0.547 0.53 0.47 0.58 0.35 0.55 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.646494 1.646494 NA NA NA NA 0.435 NA 5.5848666 1094 9 136133699 136133699 C A intronic ABO NA NA NA ncRNA_intronic ENSG00000175164 NA NA NA NA NA 9q34.2 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) Name=17 NA rs641959 0.69 0.69 0.682 0.684904 0.7485 0.7034 0.5519 0.6316 0.7669 0.75 0.71 0.61 0.62 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466275 NA NA NA NA NA 0.783 NA 5.5848333 1094 8 107782395 107782395 G A exonic ABRA NA synonymous SNV ABRA:NM_139166:exon1:c.C24T:p.S8S exonic ENSG00000174429 NA synonymous SNV ENSG00000174429:ENST00000311955:exon1:c.C24T:p.S8S NA NA 8q23.1 Score=859;Name=V$IRF7_01 NA NA NA rs11996466 0.42 0.42 0.459 0.440895 0.3579 0.5188 0.304 0.5643 0.3763 0.34 0.49 0.32 0.54 0.3728 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.124626 NA NA 0.35121 0.523842 NA 0.406 NA 5.5847566 1094 2 89185056 89185056 C G intergenic MIR4436A,NONE dist=73088;dist=NONE NA NA UTR5 ENSG00000211598 ENST00000390243:c.-32C>G NA NA NA NA 2p11.2 NA Name=NFKB,Oct-2,Pol2,Pol2-4H8,YY1_(C-20),TAF1,POU2F2 Name=4 NA rs145064364 0.04 0.04 0.028 0.0621006 0.0895 0.0119 0.0548 0.0045 0.1687 0.09 0.01 0.03 0.0041 0.0767 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749995 NA NA 0.082562 0.020955 NA 0.043 NA 5.5845714 1094 9 137775155 137775155 T C exonic FCN2 NA synonymous SNV FCN2:NM_015837:exon2:c.T108C:p.R36R,FCN2:NM_004108:exon3:c.T222C:p.R74R exonic ENSG00000160339 NA synonymous SNV ENSG00000160339:ENST00000350339:exon2:c.T108C:p.R36R,ENSG00000160339:ENST00000291744:exon3:c.T222C:p.R74R NA NA 9q34.3 Score=688;Name=V$PPARG_02 NA NA NA rs4520243 0.36 0.36 0.336 0.375399 0.3718 0.4097 0.2997 0.3222 0.4693 0.37 0.42 0.29 0.33 0.3633 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039976 NA NA 0.347209 0.342488 NA 0.261 NA 5.5843576 1094 7 97487730 97487730 G A intronic ASNS NA NA NA intronic ENSG00000070669 NA NA NA NA NA 7q21.3 NA Name=PU.1 Name=3 NA rs41278830 0.12 0.12 0.108 0.135982 0.1362 0.1002 0.121 0.1112 0.2168 0.14 0.1 0.13 0.11 0.1405 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480152 NA NA 0.13907 0.105311 NA 0.152 NA 5.58423 1094 20 41306600 41306600 A G exonic PTPRT NA synonymous SNV PTPRT:NM_007050:exon7:c.T1059C:p.D353D,PTPRT:NM_133170:exon7:c.T1059C:p.D353D exonic ENSG00000196090 NA synonymous SNV ENSG00000196090:ENST00000356100:exon7:c.T1059C:p.D353D,ENSG00000196090:ENST00000373184:exon7:c.T1059C:p.D353D,ENSG00000196090:ENST00000373187:exon7:c.T1059C:p.D353D,ENSG00000196090:ENST00000373190:exon7:c.T1059C:p.D353D,ENSG00000196090:ENST00000373193:exon7:c.T1059C:p.D353D,ENSG00000196090:ENST00000373198:exon7:c.T1059C:p.D353D,ENSG00000196090:ENST00000373201:exon7:c.T1059C:p.D353D Score=491;Name=lod=132 NA 20q12 NA NA NA NA rs2425516 0.4 0.4 0.371 0.384784 0.3529 0.3462 0.4337 0.4599 0.3211 0.38 0.37 0.42 0.48 0.3785 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034806 NA NA 0.351306 0.444081 NA 0.297 NA 5.5839606 1094 12 10342356 10342356 A T intronic TMEM52B NA NA NA intronic ENSG00000165685 NA NA NA NA NA 12p13.2 NA Name=FOXA1_(C-20) Name=54 NA rs12306715 0.28 0.28 0.273 0.263179 0.4165 0.1052 0.3732 0.2156 0.2546 0.39 0.12 0.37 0.22 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581891 NA NA NA NA NA 0.442 NA 5.5835 1094 17 33787357 33787357 G C intergenic SLFN13,SLFN12L dist=11501;dist=14585 NA NA ncRNA_exonic ENSG00000267312 NA NA NA Score=595;Name=lod=348 NA 17q12 NA Name=AP-2gamma NA NA rs7219934 0.4 0.4 0.432 0.365815 0.4165 0.3958 0.3343 0.4402 0.2045 0.39 0.43 0.37 0.41 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686057 1.686057 NA NA NA NA 0.362 NA 5.5835 1094 4 48178064 48178064 C A intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA Name=p300,CEBPB,c-Fos Name=39 NA rs45598338 0.16 0.16 0.144 0.158347 0.1451 0.3482 0.1254 0.0507 0.1452 0.15 0.32 0.08 0.06 0.1362 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584652 NA NA 0.135581 0.051294 NA 0.101 NA 5.583119 1094 22 42343091 42343091 G A UTR5 CENPM NM_024053:c.-11C>T,NM_001002876:c.-11C>T NA NA UTR5 ENSG00000100162 ENST00000215980:c.-11C>T,ENST00000407253:c.-11C>T NA NA NA NA 22q13.2 NA Name=Pol2-4H8,Sin3Ak-20,HA-E2F1,YY1,USF-1,NFKB,ZEB1_(SC-25388),HEY1,AP-2gamma,USF1_(SC-8983),E2F6,YY1_(C-20),ATF3,Pol2,USF2,POU2F2,E2F4,E2F6_(H-50),TAF1,GATA-1,BHLHE40,Oct-2,ELF1_(SC-631),Max Name=99 NA rs6002555 0.39 0.39 0.402 0.450479 0.2147 0.126 0.5202 0.9183 0.3456 0.2 0.14 0.5 0.91 0.3167 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.629202 NA NA 0.219288 0.814033 NA 0.486 NA 5.5826454 1094 21 45712977 45712977 T C exonic AIRE NA synonymous SNV AIRE:NM_000383:exon10:c.T1197C:p.A399A exonic ENSG00000160224 NA synonymous SNV ENSG00000160224:ENST00000355347:exon4:c.T576C:p.A192A,ENSG00000160224:ENST00000291582:exon10:c.T1197C:p.A399A NA NA 21q22.3 NA NA NA NA rs1800521 0.35 0.35 0.303 0.35623 0.3579 0.247 0.3184 0.4955 0.3057 0.37 0.24 0.37 0.44 0.378 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646793 NA NA 0.34815 0.482428 ID=COSM444569,COSM1483985;OCCURENCE=1(breast) 0.159 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116299.2;CLNDSDB=.;CLNDSDBID=. 5.5826166 1094 6 62390916 62390916 T C exonic KHDRBS2 NA synonymous SNV KHDRBS2:NM_152688:exon9:c.A1002G:p.Q334Q exonic ENSG00000112232 NA synonymous SNV ENSG00000112232:ENST00000281156:exon9:c.A1002G:p.Q334Q Score=736;Name=lod=1310 NA 6q11.1 Score=744;Name=V$PPARA_01 NA NA NA rs1204114 0.61 0.61 0.6 0.610024 0.7187 0.6974 0.6758 0.3737 0.681 0.72 0.67 0.65 0.33 0.6707 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.00305 NA NA 0.694767 0.424648 NA 0.638 NA 5.5824996 1094 10 116615045 116615045 T C exonic FAM160B1 NA synonymous SNV FAM160B1:NM_001135051:exon14:c.T1893C:p.F631F,FAM160B1:NM_020940:exon14:c.T1893C:p.F631F exonic ENSG00000151553 NA synonymous SNV ENSG00000151553:ENST00000369248:exon14:c.T1893C:p.F631F,ENSG00000151553:ENST00000369250:exon14:c.T1893C:p.F631F Score=535;Name=lod=200 NA 10q25.3 NA NA NA NA rs3180654 0.23 0.23 0.231 0.254593 0.3777 0.0357 0.2032 0.2322 0.4202 0.39 0.04 0.22 0.23 0.3201 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255425 1.255425 NA 0.386512 0.256015 NA 0.275 NA 5.5823546 1094 19 7570990 7570990 A G exonic C19orf45 NA synonymous SNV C19orf45:NM_198534:exon7:c.A1146G:p.R382R exonic ENSG00000198723 NA synonymous SNV ENSG00000198723:ENST00000361664:exon7:c.A1146G:p.R382R NA NA 19p13.2 NA Name=Egr-1,Pol2-4H8,Sin3Ak-20,USF-1,IRF1,NF-E2,HEY1,AP-2gamma,c-Myc,ATF3,Mxi1_(bHLH),Pol2,USF1_(SC-8983),USF2,Max NA NA rs685048 0.37 0.37 0.345 0.342851 0.3718 0.1736 0.3963 0.4894 0.2515 0.38 0.19 0.43 0.52 0.3429 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661322 NA NA 0.37 0.466863 NA 0.42 NA 5.5819666 1094 2 198283305 198283305 T C exonic SF3B1 NA synonymous SNV SF3B1:NM_012433:exon5:c.A423G:p.K141K exonic ENSG00000115524 NA synonymous SNV ENSG00000115524:ENST00000335508:exon5:c.A423G:p.K141K Score=689;Name=lod=845 NA 2q33.1 Score=891;Name=V$SPZ1_01 NA NA NA rs788023 0.71 0.71 0.756 0.720647 0.7276 0.5179 0.6326 0.8903 0.7556 0.73 0.59 0.64 0.88 0.6725 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556541 NA NA 0.684651 0.846119 ID=COSM1129389;OCCURENCE=1(prostate) 0.725 NA 5.5819156 1094 19 49399676 49399676 T C intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA Name=ZBTB7A_(SC-34508),EBF,Egr-1 Name=72 NA rs73061692 0.06 0.06 0.043 0.0549121 0.1421 0.001 0.0634 0.0098 0.0757 0.14 0.0017 0.07 0.01 0.1122 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.328328 1.328328 NA 0.16407 0.037676 NA 0.123 NA 5.58163 1094 7 150921950 150921950 A G exonic ABCF2 NA synonymous SNV ABCF2:NM_005692:exon3:c.T279C:p.L93L,ABCF2:NM_007189:exon3:c.T279C:p.L93L exonic ENSG00000033050 NA synonymous SNV ENSG00000033050:ENST00000468073:exon2:c.T279C:p.L93L,ENSG00000033050:ENST00000222388:exon3:c.T279C:p.L93L,ENSG00000033050:ENST00000287844:exon3:c.T279C:p.L93L,ENSG00000033050:ENST00000441774:exon3:c.T279C:p.L93L Score=643;Name=lod=548 NA 7q36.1 Score=770;Name=V$SRF_01 NA NA NA rs6464133 0.77 0.77 0.759 0.739018 0.7008 0.874 0.7839 0.8011 0.5235 0.7 0.88 0.77 0.77 0.7 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.334569 1.334569 NA 0.684302 0.762369 NA 0.761 NA 5.5815646 1094 11 49598207 49598207 T C ncRNA_exonic LOC440040 NA NA NA ncRNA_exonic ENSG00000205035 NA NA NA Score=710;Name=lod=1025 NA 11p11.12 NA Name=MafK_(ab50322) NA NA rs3750925 0.46 0.46 0.392 0.445887 0.5517 0.5526 0.5922 0.1853 0.4755 0.54 0.53 0.6 0.16 0.5335 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107123 NA 0.29 NA NA NA NA NA 5.5814666 1094 10 28970487 28970487 C T intronic BAMBI NA NA NA intronic ENSG00000095739 NA NA NA NA NA 10p12.1 NA Name=GATA-2 Name=43 NA rs56281747 0.19 0.19 0.163 0.18131 0.1213 0.3433 0.2968 0.0469 0.1759 0.13 0.36 0.26 0.05 0.1695 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.259571 NA NA 0.128023 0.064911 NA 0.101 NA 5.581177 1094 3 149678534 149678534 C T exonic RNF13 NA synonymous SNV RNF13:NM_183381:exon10:c.C789T:p.H263H,RNF13:NM_007282:exon11:c.C789T:p.H263H exonic ENSG00000082996 NA synonymous SNV ENSG00000082996:ENST00000361785:exon7:c.C432T:p.H144H,ENSG00000082996:ENST00000482083:exon7:c.C432T:p.H144H,ENSG00000082996:ENST00000467977:exon8:c.C432T:p.H144H,ENSG00000082996:ENST00000491086:exon9:c.C432T:p.H144H,ENSG00000082996:ENST00000392894:exon10:c.C789T:p.H263H,ENSG00000082996:ENST00000344229:exon11:c.C789T:p.H263H Score=650;Name=lod=584 NA 3q25.1 Score=978;Name=V$GATA6_01 NA NA NA rs6768054 0.68 0.68 0.641 0.66873 0.7068 0.8661 0.7176 0.4501 0.6871 0.71 0.84 0.69 0.45 0.6937 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53791 NA NA 0.685 0.466863 ID=COSM1179812;OCCURENCE=1(prostate) 0.681 NA 5.5811666 1094 7 38796570 38796570 G A exonic VPS41 NA synonymous SNV VPS41:NM_080631:exon18:c.C1488T:p.D496D,VPS41:NM_014396:exon19:c.C1563T:p.D521D exonic ENSG00000006715 NA synonymous SNV ENSG00000006715:ENST00000395969:exon18:c.C1488T:p.D496D,ENSG00000006715:ENST00000310301:exon19:c.C1563T:p.D521D Score=698;Name=lod=914 NA 7p14.1 NA NA NA NA rs2240350 0.39 0.39 0.368 0.358227 0.3469 0.4206 0.5965 0.2549 0.2761 0.33 0.45 0.54 0.3 0.3819 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.835814 NA NA 0.358007 0.290191 NA 0.471 NA 5.5798596 1094 6 35426175 35426175 C T exonic FANCE NA synonymous SNV FANCE:NM_021922:exon5:c.C1071T:p.L357L exonic ENSG00000112039 NA synonymous SNV ENSG00000112039:ENST00000229769:exon5:c.C1071T:p.L357L NA NA 6p21.31 NA NA NA NA rs3823434 0.06 0.06 0.066 0.0583067 0.0258 0.1687 0.0331 0.0061 0.0665 0.03 0.16 0.04 0.01 0.0383 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702469 NA NA 0.022907 0.007944 NA 0.036 NA 5.5796596 1094 19 49385253 49385253 C G intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA Name=c-Myc,SIX5,ERalpha_a,Pol2-4H8,Pol2(b),BAF170,Znf143_(16618-1-AP),ETS1 Name=74 NA rs1466896 0.06 0.06 0.052 0.0545128 0.1412 0.001 0.0634 0.0083 0.0767 0.14 0.0017 0.08 0.01 0.1107 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106507 NA NA 0.168953 0.036541 NA 0.123 NA 5.579147 1094 12 12870695 12870695 T C UTR5 CDKN1B NM_004064:c.-79T>C NA NA UTR5 ENSG00000111276 ENST00000228872:c.-79T>C NA NA NA Name=Systemic lupus erythematosus 12p13.1 NA Name=eGFP-JunB NA NA rs34330 0.66 0.66 0.612 0.661741 0.7545 0.5317 0.7824 0.5265 0.7975 0.76 0.5 0.78 0.59 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301985 1.301985 NA NA NA NA 0.79 NA 5.5788334 1094 17 18880268 18880268 C A exonic SLC5A10 NA synonymous SNV SLC5A10:NM_001270648:exon8:c.C867A:p.I289I,SLC5A10:NM_001042450:exon9:c.C948A:p.I316I,SLC5A10:NM_001270649:exon9:c.C948A:p.I316I,SLC5A10:NM_152351:exon9:c.C948A:p.I316I exonic ENSG00000154025,ENSG00000188522 NA synonymous SNV ENSG00000154025:ENST00000317977:exon8:c.C699A:p.I233I,ENSG00000154025:ENST00000395642:exon8:c.C699A:p.I233I,ENSG00000154025:ENST00000395643:exon8:c.C867A:p.I289I,ENSG00000154025:ENST00000395645:exon9:c.C948A:p.I316I,ENSG00000154025:ENST00000395647:exon9:c.C948A:p.I316I,ENSG00000154025:ENST00000417251:exon9:c.C948A:p.I316I Score=600;Name=lod=366 NA 17p11.2 NA NA NA NA rs2472715 0.32 0.32 0.3 0.26877 0.3837 0.3671 0.2781 0.1725 0.1728 0.37 0.34 0.33 0.2 0.327 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.54483 1.54483 NA 0.377442 0.200635 NA 0.297 NA 5.5785246 1094 6 119627976 119627976 G A intronic MAN1A1 NA NA NA intronic ENSG00000111885 NA NA NA NA NA 6q22.31 NA Name=CEBPB,TAL1_(SC-12984) Name=2 NA rs6915559 0.32 0.32 0.312 0.292332 0.4215 0.123 0.2795 0.3986 0.1994 0.42 0.12 0.32 0.41 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065695 NA NA NA NA NA 0.341 NA 5.5785 1094 10 69773841 69773841 G A exonic HERC4 NA synonymous SNV HERC4:NM_015601:exon9:c.C1011T:p.S337S,HERC4:NM_022079:exon9:c.C1011T:p.S337S exonic ENSG00000148634 NA synonymous SNV ENSG00000148634:ENST00000277817:exon6:c.C681T:p.S227S,ENSG00000148634:ENST00000373700:exon9:c.C1011T:p.S337S,ENSG00000148634:ENST00000395198:exon9:c.C1011T:p.S337S,ENSG00000148634:ENST00000412272:exon9:c.C1011T:p.S337S Score=600;Name=lod=367 NA 10q21.3 NA NA NA NA rs866255 0.48 0.48 0.451 0.519369 0.331 0.8413 0.4741 0.4039 0.5695 0.32 0.83 0.43 0.36 0.4282 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523768 NA NA 0.32907 0.384476 NA 0.341 NA 5.5783966 1094 7 142460865 142460865 T C exonic PRSS1 NA synonymous SNV PRSS1:NM_002769:exon5:c.T738C:p.N246N exonic ENSG00000204983 NA synonymous SNV ENSG00000204983:ENST00000311737:exon5:c.T738C:p.N246N,ENSG00000204983:ENST00000486171:exon6:c.T780C:p.N260N Score=374;Name=lod=44 NA 7q34 NA NA NA NA rs6667 0.46 0.46 0.459 0.39377 0.5845 0.2192 0.5288 0.3956 0.2791 0.59 0.24 0.54 0.43 0.5041 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.274009 NA NA NA NA NA 0.507 NA 5.5780666 1094 19 10659659 10659659 C T exonic ATG4D NA synonymous SNV ATG4D:NM_032885:exon6:c.C915T:p.P305P exonic ENSG00000130734 NA nonsynonymous SNV ENSG00000130734:ENST00000588667:exon5:c.C638T:p.P213L,ENSG00000130734:ENST00000588857:exon6:c.C871T:p.R291C NA NA 19p13.2 NA NA NA NA rs2304165 0.12 0.12 0.117 0.130591 0.1541 0.1081 0.0994 0.1097 0.18 0.15 0.09 0.13 0.12 0.1333 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.246918 1.246918 NA 0.134767 0.112801 NA 0.188 NA 5.577833 1094 12 29423460 29423460 G A exonic FAR2 NA synonymous SNV FAR2:NM_001271783:exon2:c.G78A:p.L26L,FAR2:NM_018099:exon2:c.G78A:p.L26L exonic ENSG00000064763 NA synonymous SNV ENSG00000064763:ENST00000552137:exon1:c.G78A:p.L26L,ENSG00000064763:ENST00000182377:exon2:c.G78A:p.L26L,ENSG00000064763:ENST00000536681:exon2:c.G78A:p.L26L Score=531;Name=lod=192 NA 12p11.22 NA NA NA NA rs2216854 0.41 0.41 0.419 0.427915 0.3459 0.4058 0.2781 0.6399 0.3548 0.35 0.38 0.28 0.64 0.3643 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750874 NA NA 0.379186 0.59714 ID=COSM147460;OCCURENCE=1(stomach) 0.514 NA 5.5772806 1094 5 141243646 141243646 A G exonic PCDH1 NA synonymous SNV PCDH1:NM_002587:exon3:c.T2250C:p.A750A,PCDH1:NM_032420:exon3:c.T2250C:p.A750A exonic ENSG00000156453 NA synonymous SNV ENSG00000156453:ENST00000287008:exon3:c.T2250C:p.A750A,ENSG00000156453:ENST00000357517:exon3:c.T2283C:p.A761A,ENSG00000156453:ENST00000394536:exon3:c.T2250C:p.A750A,ENSG00000156453:ENST00000536585:exon3:c.T2184C:p.A728A,ENSG00000156453:ENST00000456271:exon4:c.T2214C:p.A738A NA NA 5q31.3 NA Name=CTCF NA NA rs3797054 0.37 0.37 0.359 0.420727 0.3469 0.5784 0.3357 0.2935 0.5665 0.32 0.59 0.31 0.25 0.3915 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033189 NA NA 0.351047 0.312301 NA 0.377 NA 5.5772196 1094 20 6064710 6064710 A G exonic FERMT1 NA synonymous SNV FERMT1:NM_017671:exon13:c.T1695C:p.F565F exonic ENSG00000101311 NA synonymous SNV ENSG00000101311:ENST00000536936:exon12:c.T924C:p.F308F,ENSG00000101311:ENST00000217289:exon13:c.T1695C:p.F565F Score=559;Name=lod=249 NA 20p12.3 NA NA NA NA rs753927 0.44 0.44 0.414 0.395767 0.3588 0.6161 0.4568 0.3079 0.2822 0.35 0.66 0.46 0.31 0.3683 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.559235 1.559235 NA 0.362442 0.35429 NA 0.377 NA 5.5771246 1094 2 162059969 162059969 A T intronic TANK NA NA NA intronic ENSG00000136560 NA NA NA Score=623;Name=lod=454 NA 2q24.2 NA Name=GATA3_(SC-268) Name=3 NA rs11884495 0.44 0.44 0.42 0.417133 0.4642 0.4177 0.5548 0.2489 0.498 0.49 0.44 0.53 0.3 0.4743 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.460769 1.460769 NA 0.484651 0.302315 NA 0.391 NA 5.576849 1094 5 180708737 180708737 C A intergenic TRIM52,LOC100133331 dist=20618;dist=41770 NA NA ncRNA_intronic ENSG00000248103 NA NA NA NA NA 5q35.3 NA Name=Egr-1,ZBTB7A_(SC-34508) Name=11 NA rs2545077 NA NA NA 0.47484 0.4235 0.4802 0.4352 0.5408 0.4611 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140083 NA NA NA NA NA NA NA 5.5765 1094 14 57150174 57150174 C T intergenic TMEM260,OTX2 dist=33942;dist=117251 NA NA ncRNA_exonic ENSG00000242995 NA NA NA Score=690;Name=lod=849 NA 14q22.3 NA NA Name=4 NA rs61995047 0.35 0.35 0.305 0.35024 0.4235 0.379 0.4496 0.1906 0.3906 0.42 0.34 0.45 0.2 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379361 NA NA NA NA NA 0.217 NA 5.5765 1094 18 21103971 21103971 T G intronic C18orf8 NA NA NA intronic ENSG00000141452,ENSG00000141458 NA NA NA NA NA 18q11.2 NA Name=JunD Name=93 NA rs891386 0.36 0.36 0.318 0.335863 0.4235 0.4167 0.5 0.1006 0.364 0.43 0.43 0.43 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182848 NA NA NA NA NA 0.37 NA 5.5765 1094 3 10059664 10059664 T C ncRNA_exonic CIDECP NA NA NA ncRNA_exonic ENSG00000186162 NA NA NA NA NA 3p25.3 NA NA Name=89 NA rs3209700 0.07 0.07 0.059 0.0716853 0.0905 0.0208 0.0821 0.062 0.1104 0.09 0.03 0.07 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681926 NA NA NA NA NA 0.174 NA 5.5761666 1094 17 62018773 62018773 T C exonic SCN4A NA synonymous SNV SCN4A:NM_000334:exon24:c.A4869G:p.T1623T exonic ENSG00000007314 NA synonymous SNV ENSG00000007314:ENST00000435607:exon24:c.A4869G:p.T1623T,ENSG00000007314:ENST00000578147:exon24:c.A4869G:p.T1623T NA NA 17q23.3 NA NA NA NA rs2070720 0.43 0.43 0.454 0.41893 0.3678 0.4345 0.3357 0.6218 0.2403 0.38 0.39 0.38 0.61 0.3703 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.82405 NA NA 0.352948 0.57765 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078662.2;CLNDSDB=.;CLNDSDBID=. 5.5756186 1094 22 22989520 22989520 G T intronic GGTLC2 NA NA NA exonic ENSG00000100121 NA synonymous SNV ENSG00000100121:ENST00000448514:exon3:c.G372T:p.V124V Score=574;Name=lod=286 NA 22q11.22 NA NA NA NA rs61732073 0.15 0.15 0.075 0.196885 0.0626 0.2192 0.0836 0.2769 0.2843 0.08 0.19 0.08 0.25 0.1276 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099747 NA NA 0.06759 0.277349 NA NA NA 5.5755433 1094 5 135178124 135178124 T C exonic SLC25A48 NA synonymous SNV SLC25A48:NM_145282:exon2:c.T66C:p.V22V exonic ENSG00000145832 NA nonsynonymous SNV ENSG00000145832:ENST00000462340:exon2:c.T25C:p.W9R Score=491;Name=lod=132 NA 5q31.1 Score=923;Name=V$TCF11_01 NA NA NA rs2304075 0.75 0.75 0.758 0.743011 0.831 0.7123 0.6628 0.7322 0.7556 0.83 0.66 0.7 0.77 0.7707 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29796 NA NA 0.823039 0.776427 NA 0.833 NA 5.575261 1095 2 238257353 238257353 A G intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA Name=4 NA rs2646263 0.16 0.16 0.149 0.180711 0.1491 0.0565 0.2133 0.3101 0.1431 0.14 0.05 0.2 0.29 0.1479 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881728 NA NA 0.12814 0.275306 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080977.1;CLNDSDB=.;CLNDSDBID=. 5.57486 1095 19 11763243 11763243 C A intergenic ZNF627,ZNF833P dist=33269;dist=21570 NA NA ncRNA_exonic ENSG00000267500 NA NA NA NA NA 19p13.2 NA Name=KAP1,SETDB1 Name=2 NA rs10420009 0.4 0.4 0.399 0.438299 0.4254 0.2252 0.4553 0.5666 0.4857 0.43 0.21 0.44 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816465 NA NA NA NA ID=COSN165734;OCCURENCE=1(breast) 0.529 NA 5.5746 1095 2 132201466 132201466 G A ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=614;Name=lod=417 NA 2q21.1 NA NA NA NA rs112041013 0.02 0.02 0.017 0.0169728 0.0577 NA 0.0216 0.0015 0.0102 0.06 NA 0.02 NA 0.0345 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376363 NA NA NA NA NA NA NA 5.5744666 1095 7 100410597 100410597 G A exonic EPHB4 NA synonymous SNV EPHB4:NM_004444:exon12:c.C1890T:p.C630C exonic ENSG00000196411 NA synonymous SNV ENSG00000196411:ENST00000358173:exon12:c.C1890T:p.C630C,ENSG00000196411:ENST00000360620:exon12:c.C1890T:p.C630C Score=474;Name=lod=113 NA 7q22.1 NA NA NA NA rs2230585 0.31 0.31 0.251 0.275559 0.3668 0.3115 0.2867 0.1641 0.2873 0.38 0.34 0.34 0.16 0.3403 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628991 NA NA 0.386512 0.209714 NA 0.232 NA 5.5730546 1095 22 26956392 26956392 T C intronic TPST2 NA NA NA intronic ENSG00000128294 NA NA NA Score=751;Name=lod=1507 NA 22q12.1 NA NA Name=4 NA rs9613209 0.43 0.43 0.406 0.416134 0.4274 0.504 0.464 0.295 0.4438 0.43 0.48 0.49 0.33 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.506467 1.506467 NA NA NA NA 0.304 NA 5.5726 1095 12 48090118 48090118 G A exonic RPAP3 NA synonymous SNV RPAP3:NM_001146076:exon4:c.C9T:p.A3A,RPAP3:NM_001146075:exon5:c.C486T:p.A162A,RPAP3:NM_024604:exon5:c.C486T:p.A162A exonic ENSG00000005175 NA synonymous SNV ENSG00000005175:ENST00000432584:exon4:c.C9T:p.A3A,ENSG00000005175:ENST00000005386:exon5:c.C486T:p.A162A,ENSG00000005175:ENST00000380650:exon5:c.C486T:p.A162A NA NA 12q13.11 NA NA NA NA rs12368459 0.02 0.02 0.012 0.00998403 0.0338 0.001 0.013 NA 0.0061 0.04 0.0017 0.01 NA 0.0246 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236289 NA NA 0.036279 0.007036 NA 0.174 NA 5.5719876 1095 17 10542886 10542886 T C exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon23:c.A2916G:p.T972T exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon22:c.A2916G:p.T972T,ENSG00000109063:ENST00000583535:exon23:c.A2916G:p.T972T Score=631;Name=lod=491 NA 17p13.1 NA NA NA NA rs2285472 0.5 0.5 0.486 0.466254 0.7575 0.3839 0.5346 0.2398 0.5092 0.74 0.37 0.52 0.27 0.6085 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13407 NA NA 0.728837 0.295506 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117664.1;CLNDSDB=.;CLNDSDBID=. 5.5718296 1095 14 88477413 88477413 C T exonic GPR65 NA synonymous SNV GPR65:NM_003608:exon2:c.C222T:p.T74T exonic ENSG00000140030 NA synonymous SNV ENSG00000140030:ENST00000267549:exon2:c.C222T:p.T74T Score=467;Name=lod=105 NA 14q31.3 NA Name=GATA3_(SC-268) NA NA rs6574978 0.8 0.8 0.808 0.820487 0.6779 0.9831 0.8141 0.7821 0.8558 0.68 0.98 0.81 0.78 0.746 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.290139 NA NA 0.671047 0.768044 NA 0.877 NA 5.5717196 1095 5 179036268 179036268 A C intronic RUFY1 NA NA NA intronic ENSG00000176783 NA NA NA NA NA 5q35.3 NA Name=Pol2-4H8,ZNF263 Name=61 NA rs60104959 0.33 0.33 0.315 0.284944 0.4284 0.1726 0.3141 0.3192 0.1861 0.44 0.17 0.34 0.33 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396081 NA NA NA NA NA 0.406 NA 5.5716 1095 4 169294859 169294859 C T exonic DDX60L NA synonymous SNV DDX60L:NM_001012967:exon35:c.G4734A:p.G1578G exonic ENSG00000181381 NA synonymous SNV ENSG00000181381:ENST00000260184:exon35:c.G4734A:p.G1578G,ENSG00000181381:ENST00000511577:exon35:c.G4734A:p.G1578G NA NA 4q32.3 NA NA NA NA rs13133439 0.01 0.01 0.005 0.00878594 0.0298 NA 0.013 0.0008 0.0041 0.03 NA 0.02 0.002 0.0265 0.039 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194448 NA NA 0.038775 0.007133 NA 0.022 NA 5.5715916 1095 21 47836426 47836426 T C exonic PCNT NA synonymous SNV PCNT:NM_006031:exon30:c.T6594C:p.G2198G exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon30:c.T6594C:p.G2198G NA NA 21q22.3 NA NA NA NA rs57108405 0.12 0.12 0.137 0.155351 0.0239 0.003 0.0634 0.4713 0.0859 0.02 0.0017 0.06 0.45 0.0576 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.219686 NA NA 0.013605 0.401498 NA 0.109 NA 5.5715616 1095 6 29976024 29976024 C G ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622 NA NA NA Score=378;Name=lod=46 NA 6p22.1 NA NA NA NA rs3765604 0.18 0.18 0.215 0.191494 0.0954 0.1905 0.1744 0.2988 0.1585 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019732 NA NA NA NA NA 0.159 NA 5.5712666 1095 6 29999534 29999534 A G ncRNA_intronic ZNRD1-AS1 NA NA NA ncRNA_exonic ENSG00000232757 NA NA NA Score=729;Name=lod=1219 NA 6p22.1 NA NA NA NA rs4448133 0.18 0.18 0.19 0.191294 0.0954 0.1905 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337122 NA NA NA NA NA 0.167 NA 5.5712666 1095 6 30000280 30000280 C T ncRNA_intronic ZNRD1-AS1 NA NA NA ncRNA_exonic ENSG00000232757 NA NA NA Score=769;Name=lod=1775 NA 6p22.1 NA NA NA NA rs9261189 0.18 0.18 0.197 0.191693 0.0954 0.1905 0.1744 0.2995 0.1585 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355663 NA NA NA NA NA 0.167 NA 5.5712666 1095 21 47783655 47783655 C G exonic PCNT NA synonymous SNV PCNT:NM_006031:exon14:c.C2415G:p.A805A exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon14:c.C2415G:p.A805A NA NA 21q22.3 NA NA NA NA rs61407822 0.12 0.12 0.134 0.154752 0.0249 0.004 0.062 0.4682 0.0859 0.02 0.0017 0.06 0.44 0.0573 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60776 NA NA 0.013605 0.399909 NA 0.145 NA 5.5708616 1095 10 61043244 61043244 G A intronic FAM13C NA NA NA exonic ENSG00000148541 NA synonymous SNV ENSG00000148541:ENST00000277705:exon6:c.C534T:p.L178L,ENSG00000148541:ENST00000442566:exon6:c.C534T:p.L178L Score=598;Name=lod=358 NA 10q21.1 NA NA NA NA rs61738820 0.04 0.04 0.039 0.0295527 0.0944 0.001 0.049 0.0045 0.0123 0.08 0.0017 0.07 0.01 0.0696 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.027395 NA NA 0.098721 0.01793 NA 0.029 NA 5.5706123 1095 18 22020543 22020543 C G exonic IMPACT NA nonsynonymous SNV IMPACT:NM_018439:exon6:c.C451G:p.L151V exonic ENSG00000154059 NA nonsynonymous SNV ENSG00000154059:ENST00000284202:exon6:c.C451G:p.L151V,ENSG00000154059:ENST00000578221:exon6:c.C451G:p.L151V,ENSG00000154059:ENST00000585067:exon6:c.C397G:p.L133V NA NA 18q11.2 NA NA NA NA rs677688 0.87 0.87 0.874 0.871206 0.9374 0.6607 0.9755 0.941 0.8517 0.93 0.67 0.97 0.95 0.9035 0.97 0.38 T 0.0 B 0.0 B 0.453 N 1.000 P -1.795 N 1.55 T -1.026 T 0.000 T 0.151 -0.962 0.32 2.38 0.203 0.781 4.381 -0.962303 NA 1 0.921977 0.935089 NA 0.855 NA 5.5704564 1095 6 29975950 29975950 C T ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA Name=USF-1 NA NA rs3765606 0.18 0.18 0.198 0.192093 0.0964 0.1915 0.1744 0.2995 0.1585 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151669 NA NA NA NA NA 0.167 NA 5.5702666 1095 19 51630482 51630482 C A exonic SIGLEC9 NA nonsynonymous SNV SIGLEC9:NM_001198558:exon4:c.C944A:p.A315E,SIGLEC9:NM_014441:exon4:c.C944A:p.A315E exonic ENSG00000129450 NA nonsynonymous SNV ENSG00000129450:ENST00000250360:exon4:c.C944A:p.A315E,ENSG00000129450:ENST00000440804:exon4:c.C944A:p.A315E NA NA 19q13.41 NA NA NA NA rs2258983 0.63 0.63 0.639 0.67492 0.5845 0.5744 0.5086 0.913 0.6677 0.58 0.55 0.54 0.88 0.6043 0.88 1 T 0.0 B 0.0 B 0.436 N 1.000 P -1.795 N 2.5 T -1.022 T 0.000 T 0.04 -1.957 0.007 -0.399 -0.421 -0.534 3.057 -1.95707 NA 1 0.574419 0.848162 NA 0.761 NA 5.5701144 1095 2 121747429 121747429 A G exonic GLI2 NA synonymous SNV GLI2:NM_005270:exon13:c.A3939G:p.P1313P exonic ENSG00000074047 NA synonymous SNV ENSG00000074047:ENST00000361492:exon13:c.A3939G:p.P1313P,ENSG00000074047:ENST00000452319:exon14:c.A3939G:p.P1313P NA NA 2q14.2 Score=768;Name=V$AHR_01 NA NA NA rs10167980 0.56 0.56 0.567 0.51238 0.7286 0.4762 0.5865 0.3593 0.4816 0.72 0.5 0.6 0.37 0.6344 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114489 NA NA 0.734008 0.409359 NA 0.457 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081286.1;CLNDSDB=.;CLNDSDBID=. 5.5696586 1095 9 98908484 98908484 T C intergenic LOC158434,HSD17B3 dist=29791;dist=89105 NA NA ncRNA_exonic ENSG00000224546 NA NA NA Score=726;Name=lod=1187 NA 9q22.32 NA NA Name=2 NA rs4079869 0.44 0.44 0.424 0.496006 0.4304 0.5605 0.3242 0.6218 0.4489 0.4 0.5 0.35 0.53 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194785 NA NA NA NA ID=COSN168611;OCCURENCE=1(large_intestine) 0.493 NA 5.5696 1095 17 8076802 8076802 T A UTR3 TMEM107 NM_183065:c.*719A>T,NM_032354:c.*719A>T NA NA ncRNA_exonic ENSG00000200463 NA NA NA Score=487;Name=lod=127 NA 17p13.1 NA Name=Oct-2,HNF4G_(SC-6558),FOXA1_(SC-101058),ELF1_(SC-631),GR,Max,FOSL1_(SC-183),CEBPB,RXRA,GTF2F1_(RAP-74),CHD2_(N-1250),BATF,p300,BHLHE40,CTCF,HMGN3,ZBTB33,POU2F2,MafK_(SC-477),CTCFL_(SC-98982),GATA-1,TAF1,ETS1,GATA3_(SC-268),MEF2A,IRF4_(M-17),eGFP-JunD,USF1_(SC-8983),TR4,YY1_(C-20),BRCA1_(C-1863),TAF7_(SQ-8),BCLAF1_(M33-P5B11),BCL11A,Pol2(phosphoS2),SMC3_(ab9263),MEF2C_(SC-13268),Pol2,Mxi1_(bHLH),PU.1,NRSF,SP1,SETDB1,SRF,SIX5,MafK_(ab50322),PAX5-C20,PAX5-N19,POU5F1_(SC-9081),ZEB1_(SC-25388),eGFP-GATA2,HEY1,BCL3,NFKB,CCNT2,c-Myc,GATA2_(CG2-96),TBP,THAP1_(SC-98174),GTF2B,USF-1,TCF12,p300_(N-15),FOXA1_(C-20),SIRT6,AP-2alpha,Pol2(b),FOSL2,eGFP-JunB,JunD,HDAC2_(SC-6296),KAP1,ZNF263,E2F1,GATA-2,Pol2-4H8,Sin3Ak-20,Pbx3,c-Jun,STAT3,NANOG_(SC-33759),YY1,Egr-1,GCN5,RFX5_(N-494) Name=147 NA rs9901637 0.58 0.58 0.544 0.56869 0.6551 0.4931 0.6715 0.3933 0.7219 0.66 0.54 0.65 0.43 0.6407 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22247 NA NA 0.634606 0.476598 NA 0.572 NA 5.569594 1095 11 6048056 6048056 T C exonic OR56A1 NA synonymous SNV OR56A1:NM_001001917:exon1:c.A879G:p.A293A exonic ENSG00000180934 NA synonymous SNV ENSG00000180934:ENST00000316650:exon1:c.A879G:p.A293A Score=374;Name=lod=44 NA 11p15.4 NA NA NA NA rs11040335 0.27 0.27 0.261 0.269968 0.3966 0.0516 0.3689 0.2572 0.3119 0.4 0.04 0.38 0.26 0.3297 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428279 NA NA 0.370926 0.268741 NA 0.283 NA 5.5694406 1095 3 10089749 10089749 T C intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA Name=ERalpha_a,GATA3_(SC-268),FOXA1_(C-20),p300 Name=9 NA rs12330599 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA 0.4307 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.768704 1.768704 NA NA NA NA NA NA 5.5693 1095 16 81819768 81819768 T C exonic PLCG2 NA synonymous SNV PLCG2:NM_002661:exon2:c.T174C:p.A58A exonic ENSG00000197943 NA synonymous SNV ENSG00000197943:ENST00000359376:exon2:c.T174C:p.A58A,ENSG00000197943:ENST00000565054:exon3:c.T174C:p.A58A Score=417;Name=lod=66 NA 16q23.3 Score=889;Name=V$GATA1_05 NA NA NA rs1143685 0.75 0.75 0.727 0.733227 0.6859 0.8591 0.7277 0.6422 0.7791 0.69 0.91 0.72 0.66 0.7248 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.829412 1.829412 NA 0.687173 0.629372 NA 0.717 NA 5.5687936 1095 1 228482569 228482569 G A exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000359599:exon32:c.G8025A:p.A2675A,ENSG00000154358:ENST00000284548:exon43:c.G11484A:p.A3828A,ENSG00000154358:ENST00000366707:exon43:c.G2841A:p.A947A,ENSG00000154358:ENST00000366709:exon43:c.G2841A:p.A947A,ENSG00000154358:ENST00000422127:exon43:c.G11484A:p.A3828A,ENSG00000154358:ENST00000570156:exon48:c.G12771A:p.A4257A NA NA 1q42.13 NA NA NA NA rs56122236 0.02 0.02 0.016 0.0127796 0.0447 NA 0.0274 NA NA 0.04 NA 0.04 NA 0.0211 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438571 NA NA 0.032352 0.005295 NA NA NA 5.5685146 1095 17 65197158 65197158 A G intronic HELZ NA NA NA intronic ENSG00000198265 NA NA NA NA NA 17q24.2 NA Name=MafK_(ab50322),c-Myc,CTCF,MafF_(M8194),MafK_(SC-477) Name=25 NA rs7218955 0.29 0.29 0.306 0.3127 0.2008 0.1984 0.196 0.6278 0.2025 0.21 0.19 0.17 0.61 0.2307 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380768 NA NA NA NA NA 0.29 NA 5.5685 1095 7 66785137 66785137 C A ncRNA_exonic STAG3L4 NA NA NA ncRNA_exonic ENSG00000106610 NA NA NA Score=501;Name=lod=145 NA 7q11.21 Score=833;Name=V$BACH1_01 NA NA NA rs9443 0.3 0.3 0.286 0.30631 0.3926 0.1071 0.2752 0.388 0.3344 0.38 0.12 0.28 0.41 0.336 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028301 NA NA 0.369773 0.353164 NA 0.464 NA 5.5682936 1095 7 143017960 143017960 C G intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA Name=STAT1,AP-2alpha,STAT3,AP-2gamma Name=11 NA rs7800971 0.4 0.4 0.428 0.414337 0.4324 0.1696 0.3429 0.6573 0.3701 0.43 0.17 0.35 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477267 NA NA NA NA NA 0.42 NA 5.5676 1095 14 65054966 65054966 C T exonic PPP1R36 NA synonymous SNV PPP1R36:NM_172365:exon11:c.C1035T:p.A345A exonic ENSG00000165807 NA synonymous SNV ENSG00000165807:ENST00000298705:exon11:c.C1035T:p.A345A NA NA 14q23.3 NA NA NA NA rs116953714 0.02 0.02 0.018 0.0271565 0.0328 0.001 0.0187 0.0582 0.0123 0.03 0.0017 0.02 0.04 0.0337 0.056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171731 NA NA 0.033256 0.05606 NA 0.007 NA 5.5669106 1095 11 5529139 5529139 T C exonic UBQLN3 NA synonymous SNV UBQLN3:NM_017481:exon2:c.A1650G:p.A550A exonic ENSG00000175520 NA synonymous SNV ENSG00000175520:ENST00000311659:exon2:c.A1650G:p.A550A NA NA 11p15.4 Score=827;Name=V$CEBP_C NA NA NA rs2234456 0.23 0.23 0.195 0.188898 0.3837 0.0526 0.3314 0.0575 0.2055 0.38 0.07 0.34 0.09 0.3154 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.210114 NA NA 0.400861 0.104498 NA 0.268 NA 5.5667056 1095 6 32975896 32975896 A G exonic HLA-DOA NA synonymous SNV HLA-DOA:NM_002119:exon2:c.T225C:p.G75G exonic ENSG00000204252 NA synonymous SNV ENSG00000204252:ENST00000229829:exon2:c.T225C:p.G75G,ENSG00000204252:ENST00000450833:exon2:c.T135C:p.G45G NA NA 6p21.32 NA NA NA NA rs364950 0.09 0.09 0.081 0.0800719 0.0408 NA 0.0749 0.233 NA 0.04 NA 0.07 0.3 0.0332 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105391 NA NA 0.026024 0.203839 NA 0.08 NA 5.5666426 1095 5 75886168 75886168 A G intronic IQGAP2 NA NA NA intronic ENSG00000145703 NA NA NA NA NA 5q13.3 NA Name=IRF4_(M-17),PU.1,USF2 Name=17 NA rs2270907 0.45 0.45 0.462 0.521765 0.4334 0.3224 0.5331 0.6233 0.6728 0.44 0.34 0.51 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748989 NA NA NA NA NA 0.529 NA 5.5666 1095 3 123411589 123411589 G A exonic MYLK NA synonymous SNV MYLK:NM_053026:exon18:c.C3351T:p.T1117T,MYLK:NM_053028:exon18:c.C3351T:p.T1117T,MYLK:NM_053025:exon19:c.C3558T:p.T1186T,MYLK:NM_053027:exon19:c.C3558T:p.T1186T exonic ENSG00000065534 NA synonymous SNV ENSG00000065534:ENST00000475616:exon16:c.C3558T:p.T1186T,ENSG00000065534:ENST00000346322:exon18:c.C3351T:p.T1117T,ENSG00000065534:ENST00000359169:exon19:c.C3558T:p.T1186T,ENSG00000065534:ENST00000360304:exon19:c.C3558T:p.T1186T,ENSG00000065534:ENST00000360772:exon20:c.C3558T:p.T1186T Score=468;Name=lod=106 NA 3q21.1 Score=802;Name=V$TCF11MAFG_01 NA NA NA rs40305 0.38 0.38 0.368 0.332668 0.7594 0.0685 0.4856 0.0643 0.4202 0.76 0.05 0.52 0.08 0.5783 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361656 NA NA 0.762558 0.174535 NA 0.493 NA 5.5664086 1095 1 75037845 75037845 A G exonic C1orf173 NA synonymous SNV C1orf173:NM_001002912:exon14:c.T3549C:p.S1183S exonic ENSG00000178965 NA synonymous SNV ENSG00000178965:ENST00000326665:exon14:c.T3549C:p.S1183S NA NA 1p31.1 NA Name=NRSF NA NA rs12723334 0.39 0.39 0.382 0.3752 0.3549 0.5843 0.3314 0.2466 0.3855 0.36 0.6 0.3 0.25 0.3761 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059842 NA NA 0.369419 0.25034 NA 0.355 NA 5.5662476 1095 14 37131993 37131993 G C intronic PAX9 NA NA NA UTR5 ENSG00000198807 ENST00000554201:c.-666G>C NA NA NA NA 14q13.3 NA Name=CTCF Name=34 NA rs12883298 0.58 0.58 0.564 0.552117 0.6014 0.749 0.4179 0.3986 0.6012 0.59 0.75 0.48 0.43 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.151362 NA NA NA NA NA 0.609 NA 5.5652667 1096 1 24421804 24421804 A G intronic MYOM3 NA NA NA intronic ENSG00000142661 NA NA NA NA NA 1p36.11 NA Name=SRF Name=2 NA rs11249142 0.28 0.28 0.246 0.228035 0.4354 0.3413 0.2118 0.0189 0.1922 0.46 0.31 0.23 0.02 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083099 NA NA NA NA NA 0.138 NA 5.5646 1096 20 61439696 61439696 C G intronic OGFR NA NA NA intronic ENSG00000060491 NA NA NA NA NA 20q13.33 NA Name=SMC3_(ab9263),YY1_(C-20),CTCF,EBF1_(C-8),Rad21 Name=112 NA rs41282978 0.12 0.12 0.119 0.111222 0.1839 0.004 0.0951 0.152 0.1033 0.18 0.0017 0.11 0.15 0.1162 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395853 NA NA 0.135358 0.136013 NA 0.13 NA 5.564542 1096 6 32427841 32427841 G A intergenic HLA-DRA,HLA-DRB5 dist=15015;dist=57313 NA NA ncRNA_exonic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=c-Myc,Pol2,HA-E2F1 Name=6 NA rs28732235 0.12 0.12 0.093 0.120208 0.1769 0.0526 0.1138 0.0976 0.1667 0.18 0.05 0.12 0.11 0.1213 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224779 NA NA 0.137368 0.094749 NA 0.116 NA 5.564432 1096 1 10238770 10238770 A G exonic UBE4B NA synonymous SNV UBE4B:NM_006048:exon25:c.A3207G:p.T1069T,UBE4B:NM_001105562:exon26:c.A3594G:p.T1198T exonic ENSG00000130939 NA synonymous SNV ENSG00000130939:ENST00000253251:exon25:c.A3207G:p.T1069T,ENSG00000130939:ENST00000377157:exon25:c.A2859G:p.T953T,ENSG00000130939:ENST00000343090:exon26:c.A3594G:p.T1198T NA NA 1p36.22 NA NA NA NA rs7546642 0.07 0.07 0.068 0.0888578 0.0278 0.001 0.062 0.2118 0.0951 0.03 NA 0.07 0.21 0.0461 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.874465 NA NA 0.029535 0.157059 NA 0.08 NA 5.5632316 1096 19 39329517 39329517 C T intronic HNRNPL NA NA NA intronic ENSG00000104824,ENSG00000268083 NA NA NA NA NA 19q13.2 NA Name=CTCF,Rad21,Pol2,Pol2-4H8,STAT3,Pol2(b) Name=36 NA rs8111670 0.15 0.15 0.166 0.211262 0.1342 0.1349 0.1268 0.2859 0.3282 0.13 0.1 0.12 0.26 0.1699 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663551 NA NA 0.132907 0.274172 NA 0.246 NA 5.562993 1096 15 64263532 64263532 C A intronic DAPK2 NA NA NA intronic ENSG00000035664 NA NA NA NA NA 15q22.31 NA Name=BCL11A,Pol2,EBF,Egr-1 Name=14 NA rs6494457 0.27 0.27 0.229 0.249201 0.4374 0.0109 0.4207 0.208 0.2352 0.42 0.01 0.41 0.24 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071337 NA NA NA NA NA 0.297 NA 5.5626 1096 17 79479469 79479469 A C intronic ACTG1 NA NA NA UTR5 ENSG00000184009 ENST00000575842:c.-89T>G NA NA NA NA 17q25.3 NA Name=HEY1,Pol2-4H8,Pbx3,JunD,Pol2,TAF7_(SQ-8),GABP Name=20 NA rs8064532 0.41 0.41 0.449 0.406749 0.6044 0.0466 0.4452 0.5076 0.411 0.6 0.05 0.52 0.47 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261664 NA NA NA NA NA 0.297 NA 5.5622667 1096 1 22216574 22216574 C A exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon6:c.G474T:p.G158G exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000412328:exon3:c.G242T:p.G81V NA NA 1p36.12 NA NA NA NA rs2254358 0.45 0.45 0.462 0.444489 0.6839 0.3522 0.4164 0.2163 0.6217 0.67 0.35 0.45 0.24 0.5769 0.68 0.24 T 0.617 P 0.226 B 0.043 N 0.998 P . . 0.39 T -0.960 T 0.000 T . 1.117 9.554 0.36 0.199 -0.631 3.784 1.116592 NA 0.44 0.676977 0.302996 NA 0.457 NA 5.562223 1096 17 37822311 37822311 A C exonic TCAP NA synonymous SNV TCAP:NM_003673:exon2:c.A453C:p.A151A exonic ENSG00000173991 NA synonymous SNV ENSG00000173991:ENST00000309889:exon2:c.A453C:p.A151A,ENSG00000173991:ENST00000578283:exon3:c.A381C:p.A127A Score=259;Name=lod=15 NA 17q12 NA NA NA NA rs1053651 0.57 0.57 0.581 0.54972 0.7217 0.4167 0.5591 0.4191 0.68 0.72 0.49 0.58 0.44 0.6706 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462153 NA NA 0.712174 0.434941 ID=COSM436493;OCCURENCE=1(breast) 0.572 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000037796.3|RCV000128377.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.5621926 1096 22 43088971 43088971 C T exonic A4GALT NA synonymous SNV A4GALT:NM_017436:exon3:c.G987A:p.T329T exonic ENSG00000128274 NA synonymous SNV ENSG00000128274:ENST00000249005:exon2:c.G987A:p.T329T,ENSG00000128274:ENST00000381278:exon2:c.G987A:p.T329T,ENSG00000128274:ENST00000401850:exon2:c.G987A:p.T329T Score=333;Name=lod=30 NA 22q13.2 NA NA NA NA rs9623659 0.33 0.33 0.347 0.349042 0.3817 0.1319 0.3415 0.503 0.3364 0.37 0.13 0.4 0.47 0.3524 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40313 NA NA 0.370814 0.46936 NA 0.428 NA 5.5617526 1096 6 76545684 76545684 T C intronic MYO6 NA NA NA intronic ENSG00000196586 NA NA NA Score=582;Name=lod=310 NA 6q14.1 NA NA NA NA rs12210963 0.11 0.11 0.109 0.102636 0.165 0.0387 0.1023 0.1104 0.0941 0.16 0.04 0.12 0.1 0.1215 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722823 NA NA 0.152128 0.110758 NA 0.225 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038313.1;CLNDSDB=.;CLNDSDBID=. 5.561372 1096 1 19440107 19440107 A G intronic UBR4 NA NA NA UTR3 ENSG00000127481 ENST00000375218:c.*266T>C NA NA NA NA 1p36.13 NA Name=TAL1_(SC-12984),GABP,GATA2_(CG2-96),Pol2-4H8,GATA-2,eGFP-JunD Name=3 NA rs9661719 0.72 0.72 0.708 0.712859 0.6054 0.8105 0.7334 0.8215 0.5613 0.6 0.82 0.71 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589845 NA NA NA NA NA 0.63 NA 5.5612667 1096 12 121454342 121454342 T A upstream C12orf43 NA NA NA upstream ENSG00000157895 NA NA NA NA NA 12q24.31 NA Name=GTF2F1_(RAP-74),CHD2_(N-1250),ELF1_(SC-631),Max,Oct-2,TCF4,Pol2,Mxi1_(bHLH),GATA3_(SC-268),USF1_(SC-8983),eGFP-JunD,BRCA1_(C-1863),YY1_(C-20),Znf143_(16618-1-AP),GATA-1,TAF1,ETS1,USF2,E2F4,POU2F2,USF-1,IRF1,TBP,NFKB,HEY1,ZEB1_(SC-25388),c-Myc,SIX5,PAX5-C20,YY1,RFX5_(N-494),ZNF263,Pol2-4H8,ERalpha_a,GATA-2,HA-E2F1,eGFP-JunB,JunD,Pol2(b) Name=148 NA rs73214155 0.1 0.1 0.073 0.091254 0.1054 0.001 0.2997 0.0628 0.0603 0.11 NA 0.26 0.09 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.098791 NA NA NA NA NA 0.138 NA 5.5612666 1096 2 233925406 233925406 T G intronic INPP5D NA NA NA intronic ENSG00000168918 NA NA NA NA NA 2q37.1 Score=881;Name=V$CREBP1_01 Name=HNF4A,HDAC2_(SC-6296) NA NA rs34218488 0.43 0.43 0.412 0.40655 0.4394 0.6042 0.4582 0.2027 0.408 0.44 0.58 0.43 0.23 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408807 NA NA NA NA NA 0.377 NA 5.5606 1096 4 1729347 1729347 A G intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA Name=c-Fos,c-Jun,STAT3,GABP,JunD,STAT1 Name=115 NA rs1793997 0.32 0.32 0.015 0.309505 0.4394 0.1597 0.3199 0.3359 0.2873 0.43 0.18 0.31 0.29 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847019 NA NA NA NA NA NA NA 5.5606 1096 4 1729348 1729348 T A intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA Name=STAT1,JunD,GABP,STAT3,c-Fos,c-Jun Name=115 NA rs2854908 0.31 0.31 NA 0.309505 0.4394 0.1597 0.3199 0.3359 0.2873 0.43 0.18 0.31 0.29 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546934 NA NA NA NA NA NA NA 5.5606 1096 10 101802262 101802262 G A exonic CPN1 NA synonymous SNV CPN1:NM_001308:exon9:c.C1299T:p.H433H exonic ENSG00000120054 NA synonymous SNV ENSG00000120054:ENST00000370418:exon9:c.C1299T:p.H433H NA NA 10q24.2 NA NA NA NA rs61733667 0.03 0.03 0.022 0.0225639 0.0338 0.0238 0.0663 0.0023 0.0061 0.03 0.03 0.07 0.002 0.0346 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307614 NA NA 0.038023 0.007717 NA 0.022 NA 5.5602436 1096 14 106866588 106866588 T C intergenic LINC00226,LINC00221 dist=121622;dist=71867 NA NA exonic ENSG00000211958 NA nonsynonymous SNV ENSG00000211958:ENST00000390618:exon2:c.A166G:p.I56V Score=481;Name=lod=120 NA 14q32.33 NA NA NA NA rs73379082 NA NA 0.212 NA NA NA NA NA NA NA NA NA NA 0.1746 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.122509 NA 1 0.098494 0.353377 NA 0.123 NA 5.5602394 1096 2 233791648 233791648 G T intronic NGEF NA NA NA intronic ENSG00000066248 NA NA NA NA NA 2q37.1 NA Name=SUZ12 Name=4 NA rs2592127 0.4 0.4 0.374 0.358427 0.4404 0.3383 0.4697 0.3419 0.2382 0.43 0.37 0.46 0.34 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792099 NA NA NA NA NA 0.254 NA 5.5596 1096 3 149192676 149192676 G A exonic TM4SF4 NA synonymous SNV TM4SF4:NM_004617:exon1:c.G12A:p.G4G exonic ENSG00000169903 NA synonymous SNV ENSG00000169903:ENST00000305354:exon1:c.G12A:p.G4G,ENSG00000169903:ENST00000465758:exon1:c.G12A:p.G4G NA NA 3q25.1 Score=866;Name=V$SPZ1_01 NA NA NA rs12488126 0.22 0.22 0.177 0.188698 0.4066 0.0208 0.3602 0.0514 0.2014 0.39 0.02 0.39 0.06 0.3106 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406518 NA NA 0.38991 0.098912 NA 0.261 NA 5.5595566 1096 6 84894942 84894942 C T exonic KIAA1009 NA synonymous SNV KIAA1009:NM_014895:exon13:c.G1626A:p.L542L exonic ENSG00000135315 NA synonymous SNV ENSG00000135315:ENST00000257766:exon13:c.G1398A:p.L466L,ENSG00000135315:ENST00000403245:exon13:c.G1626A:p.L542L NA NA 6q14.2 NA NA NA NA rs41271605 0.02 0.02 0.015 0.0117812 0.0348 0.001 0.0245 0.0015 0.0041 0.03 0.0017 0.02 0.0041 0.0285 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.340691 NA NA 0.044419 0.006582 NA 0.014 NA 5.5589476 1096 1 59147926 59147926 T C exonic MYSM1 NA nonsynonymous SNV MYSM1:NM_001085487:exon8:c.A790G:p.T264A exonic ENSG00000162601 NA nonsynonymous SNV ENSG00000162601:ENST00000472487:exon8:c.A790G:p.T264A NA NA 1p32.1 NA NA NA NA rs12139511 0.61 0.61 0.607 0.631989 0.5875 0.629 0.6643 0.6589 0.6217 0.58 0.62 0.66 0.61 0.6078 0.66 0.8 T 0.0 B 0.0 B 0.933 N 1.000 P -0.695 N 2.01 T -0.946 T 0.000 T 0.008 -2.129 0.005 0.948 0.077 0.198 0.666 -2.129199 NA NA 0.579276 0.620219 NA 0.594 NA 5.5587574 1096 4 140809656 140809656 C A intronic MAML3 NA NA NA intronic ENSG00000196782 NA NA NA NA NA 4q31.1 NA Name=p300 Name=40 NA rs6839194 0.33 0.33 0.296 0.299321 0.4423 0.122 0.3141 0.3396 0.2699 0.46 0.14 0.35 0.32 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219844 NA NA NA NA NA 0.275 NA 5.5577 1096 8 6378763 6378763 C T exonic ANGPT2 NA synonymous SNV ANGPT2:NM_001118888:exon3:c.G579A:p.Q193Q,ANGPT2:NM_001118887:exon4:c.G735A:p.Q245Q,ANGPT2:NM_001147:exon4:c.G735A:p.Q245Q exonic ENSG00000091879 NA synonymous SNV ENSG00000091879:ENST00000338312:exon3:c.G579A:p.Q193Q,ENSG00000091879:ENST00000325203:exon4:c.G735A:p.Q245Q,ENSG00000091879:ENST00000415216:exon4:c.G735A:p.Q245Q,ENSG00000091879:ENST00000523120:exon4:c.G735A:p.Q245Q Score=393;Name=lod=53 NA 8p23.1 NA NA NA NA rs3020221 0.3 0.3 0.312 0.309704 0.3837 0.2331 0.2767 0.3139 0.3303 0.38 0.21 0.3 0.3 0.3449 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244294 NA NA 0.380698 0.335225 NA 0.326 NA 5.5573686 1096 13 21562371 21562371 C T exonic LATS2 NA synonymous SNV LATS2:NM_014572:exon4:c.G1548A:p.P516P exonic ENSG00000150457 NA synonymous SNV ENSG00000150457:ENST00000382592:exon4:c.G1548A:p.P516P,ENSG00000150457:ENST00000542899:exon4:c.G1548A:p.P516P NA NA 13q12.11 NA NA NA NA rs59928188 0.05 0.05 0.04 0.04373 0.0358 0.0665 0.0331 0.0605 0.0133 0.04 0.05 0.04 0.07 0.0379 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185613 NA NA 0.035955 0.0495 NA NA NA 5.5570116 1096 3 41949301 41949301 T C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA Name=BATF,c-Fos Name=52 NA rs59146151 0.09 0.09 0.089 0.0840655 0.166 0.002 0.0908 0.0635 0.1074 0.18 0.0035 0.09 0.06 0.1276 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720356 NA NA 0.150135 0.076164 NA 0.13 NA 5.556265 1096 11 47469439 47469439 A G exonic RAPSN NA synonymous SNV RAPSN:NM_005055:exon2:c.T456C:p.Y152Y,RAPSN:NM_032645:exon2:c.T456C:p.Y152Y exonic ENSG00000165917 NA synonymous SNV ENSG00000165917:ENST00000298854:exon2:c.T456C:p.Y152Y,ENSG00000165917:ENST00000352508:exon2:c.T456C:p.Y152Y,ENSG00000165917:ENST00000524487:exon2:c.T456C:p.Y152Y,ENSG00000165917:ENST00000529341:exon2:c.T456C:p.Y152Y Score=707;Name=lod=992 NA 11p11.2 NA NA NA NA rs7111873 0.61 0.61 0.597 0.625599 0.7068 0.6587 0.6902 0.3472 0.8384 0.71 0.65 0.67 0.38 0.6847 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786965 NA NA 0.719106 0.426851 NA 0.703 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118119.2;CLNDSDB=.;CLNDSDBID=. 5.5560606 1096 6 152782933 152782933 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA Name=c-Jun,c-Fos,GATA-2 Name=38 NA rs579464 0.58 0.58 0.612 0.602436 0.4443 0.747 0.3775 0.7927 0.5184 0.43 0.74 0.4 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636353 NA NA NA NA NA 0.587 NA 5.5557 1096 9 138586940 138586940 C A exonic SOHLH1 NA synonymous SNV SOHLH1:NM_001012415:exon6:c.G831T:p.L277L,SOHLH1:NM_001101677:exon6:c.G831T:p.L277L exonic ENSG00000165643 NA synonymous SNV ENSG00000165643:ENST00000298466:exon6:c.G831T:p.L277L,ENSG00000165643:ENST00000425225:exon6:c.G831T:p.L277L NA NA 9q34.3 NA NA NA NA rs55674357 0.02 0.02 0.014 0.0119808 0.0447 NA 0.0101 0.0015 0.0061 0.04 NA 0.01 0.0041 0.0389 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257013 NA NA 0.027633 0.00627 NA 0.022 NA 5.5554336 1096 1 1333598 1333598 C A intronic CCNL2 NA NA NA intronic ENSG00000221978 NA NA NA NA NA 1p36.33 NA Name=Sin3Ak-20,Pol2,STAT3,SRF,TAL1_(SC-12984),c-Myc Name=90 NA rs35242196 0.33 0.33 0.286 0.370607 0.0924 0.869 0.3646 0.1203 0.4857 0.09 0.87 0.27 0.12 0.2428 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515047 NA NA 0.109767 0.123241 NA 0.203 NA 5.555033 1097 7 44005513 44005513 G A ncRNA_exonic POLR2J4 NA NA NA ncRNA_exonic ENSG00000214783,ENSG00000241057 NA NA NA Score=429;Name=lod=74 NA 7p13 NA NA NA NA rs2595699 0.09 0.09 0.078 0.0688898 0.0606 0.1171 0.072 0.0855 0.0031 0.05 0.12 0.08 0.1 0.0519 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076111 NA NA NA NA NA NA NA 5.5541666 1097 6 32427871 32427871 A G intergenic HLA-DRA,HLA-DRB5 dist=15045;dist=57283 NA NA ncRNA_intronic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=c-Myc,Pol2,HA-E2F1 Name=6 NA rs17209105 0.12 0.12 0.086 0.121006 0.1789 0.0526 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 0.1257 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342739 NA NA 0.141386 0.09532 NA 0.13 NA 5.554014 1097 11 64108262 64108262 T G intronic CCDC88B NA NA NA intronic ENSG00000168071 NA NA NA NA NA 11q13.1 NA Name=Pol2,HMGN3,EBF1_(C-8),ELF1_(SC-631),Pol2-4H8 Name=23 NA rs71456309 0.11 0.11 0.108 0.104832 0.159 0.1071 0.1225 0.0227 0.1452 0.16 0.11 0.13 0.02 0.136 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107817 NA NA 0.151023 0.047266 NA 0.051 NA 5.553977 1097 9 100201551 100201551 A G exonic TDRD7 NA synonymous SNV TDRD7:NM_014290:exon5:c.A588G:p.Q196Q exonic ENSG00000196116 NA synonymous SNV ENSG00000196116:ENST00000422139:exon4:c.A366G:p.Q122Q,ENSG00000196116:ENST00000355295:exon5:c.A588G:p.Q196Q NA NA 9q22.33 NA NA NA NA rs7853578 0.07 0.07 0.07 0.0916534 0.0278 0.1052 0.0303 0.174 0.0757 0.03 0.08 0.02 0.17 0.0541 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.356889 NA NA 0.030814 0.157512 NA 0.051 NA 5.5539526 1097 3 98541116 98541116 G A exonic DCBLD2 NA synonymous SNV DCBLD2:NM_080927:exon6:c.C786T:p.I262I exonic ENSG00000057019 NA synonymous SNV ENSG00000057019:ENST00000326840:exon6:c.C786T:p.I262I,ENSG00000057019:ENST00000326857:exon6:c.C786T:p.I262I Score=522;Name=lod=176 NA 3q12.1 NA NA NA NA rs828616 0.41 0.41 0.345 0.385982 0.3757 0.6806 0.5115 0.0772 0.4213 0.36 0.69 0.51 0.1 0.3859 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.266153 1.266153 NA 0.351198 0.115163 NA 0.254 NA 5.5538686 1097 16 74372357 74372357 C T ncRNA_exonic LOC283922 NA NA NA ncRNA_exonic ENSG00000214331 NA NA NA Score=674;Name=lod=734 NA 16q23.1 NA NA NA NA rs112549981 NA NA 0.053 NA NA NA NA NA NA NA NA NA NA 0.1132 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.116163 2.116163 NA NA NA NA NA NA 5.5534666 1097 8 141566311 141566311 C T exonic AGO2 NA synonymous SNV AGO2:NM_001164623:exon9:c.G1101A:p.A367A,AGO2:NM_012154:exon9:c.G1101A:p.A367A exonic ENSG00000123908 NA synonymous SNV ENSG00000123908:ENST00000220592:exon9:c.G1101A:p.A367A,ENSG00000123908:ENST00000519980:exon9:c.G1101A:p.A367A Score=560;Name=lod=252 NA 8q24.3 NA NA NA NA rs2271738 0.44 0.44 0.396 0.449281 0.332 0.6389 0.5807 0.2897 0.4969 0.33 0.64 0.51 0.3 0.4103 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.503544 1.503544 NA 0.371047 0.301634 NA 0.442 NA 5.5533196 1097 1 176918504 176918504 A G intronic ASTN1 NA NA NA intronic ENSG00000152092 NA NA NA Score=455;Name=lod=94 NA 1q25.2 NA Name=CTCF NA NA rs2076073 0.18 0.18 0.18 0.190695 0.1272 0.1885 0.2536 0.2655 0.1125 0.13 0.17 0.22 0.25 0.1734 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435774 NA NA 0.146279 0.257149 NA 0.13 NA 5.553121 1097 6 33240506 33240506 A G intronic RPS18 NA NA NA intronic ENSG00000231500 NA NA NA Score=653;Name=lod=602 NA 6p21.32 NA Name=CTCF_(SC-5916) NA NA rs464921 0.11 0.11 0.093 0.117612 0.1541 0.0883 0.134 0.0356 0.2096 0.15 0.1 0.14 0.03 0.1381 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.723907 1.723907 NA 0.154884 0.062642 NA 0.087 NA 5.552916 1097 2 74756176 74756176 G C intronic AUP1 NA NA NA intronic ENSG00000115307 NA NA NA NA NA 2p13.1 NA Name=CTCF,CTCF_(C-20),ZNF263 NA NA rs2231250 0.47 0.47 0.477 0.5 0.169 0.8304 0.3646 0.6891 0.3405 0.16 0.83 0.3 0.68 0.2783 0.83 0.24 T . . . . 0.270 N 1.000 P . . . . -1.044 T 0.000 T . 1.555 11.15 1.26 0.139 0.817 5.473 1.555375 1.555375 0.51 NA NA NA 0.37 NA 5.5527 1097 17 38178149 38178149 A G intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA Name=Pol2,GR,AP-2gamma Name=104 NA rs2302776 0.44 0.44 0.404 0.44988 0.4473 0.4464 0.4827 0.4281 0.4622 0.42 0.44 0.5 0.43 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14955 NA NA NA NA NA 0.435 NA 5.5527 1097 21 46057391 46057391 A G exonic KRTAP10-10 NA synonymous SNV KRTAP10-10:NM_181688:exon1:c.A57G:p.V19V exonic ENSG00000221859 NA synonymous SNV ENSG00000221859:ENST00000380095:exon1:c.A57G:p.V19V Score=475;Name=lod=114 NA 21q22.3 NA NA NA NA rs9306108 0.34 0.34 0.294 0.38738 0.3827 0.3115 0.2651 0.3775 0.5706 0.39 0.3 0.29 0.37 0.3867 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846677 NA NA 0.344767 0.339764 NA NA NA 5.5524996 1097 2 112142170 112142170 G C ncRNA_intronic LOC541471 NA NA NA ncRNA_exonic ENSG00000223973 NA NA NA Score=843;Name=lod=3545 NA 2q13 NA NA NA NA rs62163547 0.14 0.14 0.13 0.131989 0.1143 0.001 0.0807 0.3351 0.047 0.12 0.0017 0.11 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.859812 1.859812 NA NA NA NA 0.014 NA 5.5523666 1097 17 76803263 76803263 G A exonic USP36 NA synonymous SNV USP36:NM_025090:exon14:c.C1863T:p.S621S exonic ENSG00000055483 NA synonymous SNV ENSG00000055483:ENST00000449938:exon8:c.C963T:p.S321S,ENSG00000055483:ENST00000312010:exon14:c.C1863T:p.S621S,ENSG00000055483:ENST00000542802:exon14:c.C1863T:p.S621S,ENSG00000055483:ENST00000588086:exon14:c.C1863T:p.S621S,ENSG00000055483:ENST00000589225:exon14:c.C1863T:p.S621S NA NA 17q25.3 NA NA NA NA rs35820493 0.02 0.02 0.013 0.0125799 0.0427 0.001 0.0144 NA 0.0092 0.05 0.0017 0.02 NA 0.0325 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541098 NA NA 0.039302 0.007263 NA 0.007 NA 5.5521646 1097 6 38771106 38771106 G A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA Name=p300,FOXA1_(C-20),ERalpha_a,GATA3_(SC-268) Name=5 NA rs56247993 0.15 0.15 0.123 0.130791 0.1412 0.127 0.2464 0.093 0.093 0.15 0.13 0.22 0.11 0.1519 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285127 NA NA 0.154767 0.095778 NA 0.21 NA 5.552133 1097 8 144999621 144999621 C T exonic PLEC NA synonymous SNV PLEC:NM_201378:exon31:c.G4434A:p.A1478A,PLEC:NM_201379:exon31:c.G4410A:p.A1470A,PLEC:NM_201380:exon31:c.G4887A:p.A1629A,PLEC:NM_201381:exon31:c.G4380A:p.A1460A,PLEC:NM_201382:exon31:c.G4476A:p.A1492A,PLEC:NM_201383:exon31:c.G4488A:p.A1496A,PLEC:NM_201384:exon31:c.G4476A:p.A1492A,PLEC:NM_000445:exon32:c.G4557A:p.A1519A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon31:c.G4887A:p.A1629A,ENSG00000178209:ENST00000345136:exon31:c.G4476A:p.A1492A,ENSG00000178209:ENST00000354589:exon31:c.G4476A:p.A1492A,ENSG00000178209:ENST00000354958:exon31:c.G4410A:p.A1470A,ENSG00000178209:ENST00000356346:exon31:c.G4434A:p.A1478A,ENSG00000178209:ENST00000357649:exon31:c.G4488A:p.A1496A,ENSG00000178209:ENST00000398774:exon31:c.G4380A:p.A1460A,ENSG00000178209:ENST00000527096:exon31:c.G4545A:p.A1515A,ENSG00000178209:ENST00000436759:exon32:c.G4557A:p.A1519A NA NA 8q24.3 NA NA NA NA rs55646585 0.23 0.23 0.208 0.22484 0.4205 0.125 0.2896 0.028 0.3466 0.41 0.13 0.29 0.03 0.3295 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315447 NA NA 0.36517 0.08539 NA 0.159 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078867.3;CLNDSDB=.;CLNDSDBID=. 5.5514966 1097 14 106877912 106877912 G C intergenic LINC00226,LINC00221 dist=132946;dist=60543 NA NA exonic ENSG00000211959 NA nonsynonymous SNV ENSG00000211959:ENST00000390619:exon2:c.C82G:p.L28V Score=399;Name=lod=56 NA 14q32.33 NA NA NA NA rs74093494 0.25 0.25 0.179 NA NA NA NA NA NA 0.25 0.14 0.22 0.41 0.2821 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.387161 NA NA NA NA NA NA NA 5.5512334 1097 1 228402508 228402508 C T exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon5:c.C1537T:p.L513L,OBSCN:NM_001271223:exon5:c.C1537T:p.L513L,OBSCN:NM_052843:exon5:c.C1537T:p.L513L exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon5:c.C1537T:p.L513L,ENSG00000154358:ENST00000422127:exon5:c.C1537T:p.L513L,ENSG00000154358:ENST00000570156:exon5:c.C1537T:p.L513L NA NA 1q42.13 Score=898;Name=V$SPZ1_01 NA NA NA rs2776853 0.3 0.3 0.25 0.275759 0.3618 0.1706 0.353 0.3086 0.1963 0.36 0.17 0.38 0.28 0.3644 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160354 NA NA 0.390022 0.333858 NA 0.341 NA 5.5504446 1097 4 187454972 187454972 T C exonic MTNR1A NA synonymous SNV MTNR1A:NM_005958:exon2:c.A924G:p.R308R exonic ENSG00000168412 NA synonymous SNV ENSG00000168412:ENST00000307161:exon2:c.A924G:p.R308R NA NA 4q35.2 NA NA NA NA rs8192550 0.04 0.04 0.037 0.0309505 0.0398 0.0675 0.0274 0.0008 0.0276 0.04 0.07 0.03 NA 0.0329 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994186 NA NA 0.043605 0.01044 NA 0.043 NA 5.5503616 1097 3 1424850 1424850 T G exonic CNTN6 NA synonymous SNV CNTN6:NM_014461:exon18:c.T2391G:p.S797S exonic ENSG00000134115 NA synonymous SNV ENSG00000134115:ENST00000539053:exon17:c.T2175G:p.S725S,ENSG00000134115:ENST00000350110:exon18:c.T2391G:p.S797S,ENSG00000134115:ENST00000446702:exon18:c.T2391G:p.S797S NA NA 3p26.3 Score=889;Name=V$FREAC4_01 NA NA NA rs2291100 0.29 0.29 0.257 0.264577 0.3877 0.3452 0.2781 0.0386 0.3507 0.39 0.37 0.31 0.05 0.3547 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71198 NA NA 0.373953 0.091693 NA 0.304 NA 5.5503136 1097 1 154995503 154995503 G A intronic DCST2 NA NA NA intronic ENSG00000163354 NA NA NA NA NA 1q21.3 NA Name=ELF1_(SC-631),AP-2gamma,GR Name=22 NA rs2242193 0.59 0.59 0.574 0.61901 0.4503 0.9058 0.6686 0.4569 0.681 0.44 0.92 0.62 0.43 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301723 NA NA NA NA NA 0.449 NA 5.5497 1097 3 100275924 100275924 A G intronic TMEM45A NA NA NA intronic ENSG00000181458 NA NA NA NA NA 3q12.2 NA Name=c-Fos,JunD,ELK4 Name=96 NA rs7631877 0.5 0.5 0.525 0.475839 0.4503 0.3175 0.4323 0.8018 0.2556 0.46 0.33 0.45 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160279 NA NA NA NA NA 0.645 NA 5.5497 1097 16 90099061 90099061 C T intronic GAS8 NA NA NA intronic ENSG00000141013 NA NA NA NA NA 16q24.3 NA Name=CTCF,ZEB1_(SC-25388) Name=108 NA rs4324129 0.56 0.56 0.522 0.532149 0.4503 0.7937 0.5735 0.3457 0.5695 0.46 0.84 0.54 0.39 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360766 NA NA NA NA NA 0.551 NA 5.5497 1097 18 21127910 21127910 C T intronic NPC1 NA NA NA intronic ENSG00000141458 NA NA NA NA NA 18q11.2 NA Name=JunD,FOSL2,STAT3 Name=58 NA rs2435307 0.51 0.51 0.48 0.491014 0.4503 0.5903 0.6052 0.4206 0.4448 0.46 0.63 0.54 0.42 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201543 NA NA NA NA NA 0.514 NA 5.5497 1097 18 72168486 72168486 T C intronic CNDP2 NA NA NA exonic ENSG00000133313 NA nonsynonymous SNV ENSG00000133313:ENST00000583203:exon3:c.T100C:p.C34R NA NA 18q22.3 NA NA Name=15 NA rs8084410 0.31 0.31 0.288 0.363618 0.2127 0.3006 0.3689 0.5386 0.3436 0.19 0.3 0.31 0.51 0.4046 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016099 NA NA NA NA NA 0.348 NA 5.5493667 1097 21 15330476 15330476 C T ncRNA_intronic ANKRD20A11P NA NA NA ncRNA_exonic ENSG00000215559 NA NA NA Score=243;Name=lod=13 NA 21q11.2 NA NA NA NA rs392812 0.13 0.13 0.097 0.11242 0.1173 0.244 0.1009 0.0038 0.1268 0.13 0.24 0.1 0.002 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746553 NA NA NA NA NA 0.109 NA 5.5493666 1097 2 101879023 101879023 G A exonic CNOT11 NA synonymous SNV CNOT11:NM_017546:exon3:c.G702A:p.T234T exonic ENSG00000158435 NA synonymous SNV ENSG00000158435:ENST00000289382:exon3:c.G702A:p.T234T NA NA 2q11.2 NA NA NA NA rs1007752 0.02 0.02 0.018 0.014377 0.0408 NA 0.0317 0.0015 0.0072 0.03 NA 0.03 0.002 0.0297 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895842 NA NA 0.04686 0.007036 NA 0.007 NA 5.5493066 1097 17 16852206 16852206 A C exonic TNFRSF13B NA synonymous SNV TNFRSF13B:NM_012452:exon3:c.T291G:p.P97P exonic ENSG00000240505 NA synonymous SNV ENSG00000240505:ENST00000437538:exon2:c.T153G:p.P51P,ENSG00000240505:ENST00000583789:exon2:c.T153G:p.P51P,ENSG00000240505:ENST00000584950:exon2:c.T153G:p.P51P,ENSG00000240505:ENST00000261652:exon3:c.T291G:p.P97P,ENSG00000240505:ENST00000579315:exon3:c.T291G:p.P97P NA NA 17p11.2 NA NA NA NA rs35062843 0.03 0.03 0.024 0.0485224 0.0408 0.0089 0.0533 0.0265 0.1237 0.03 0.01 0.04 0.03 0.0424 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368905 NA NA 0.034419 0.026101 NA 0.007 NA 5.5490476 1097 17 3563339 3563339 C T intronic CTNS NA NA NA intronic ENSG00000040531 NA NA NA NA NA 17p13.2 NA Name=GR,Pol2(phosphoS2),Pol2,AP-2gamma,c-Fos,Pol2-4H8 Name=109 NA rs222753 0.3 0.3 0.257 0.265974 0.4513 0.1796 0.3818 0.0915 0.318 0.47 0.18 0.39 0.09 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463778 NA NA NA NA NA 0.319 NA 5.5487 1097 8 623593 623593 G A exonic ERICH1 NA synonymous SNV ERICH1:NM_207332:exon4:c.C759T:p.A253A exonic ENSG00000104714 NA synonymous SNV ENSG00000104714:ENST00000522706:exon2:c.C477T:p.A159A,ENSG00000104714:ENST00000262109:exon4:c.C759T:p.A253A NA NA 8p23.3 NA NA NA NA rs55783038 0.21 0.21 0.192 0.197484 0.4066 0.0675 0.2435 0.0371 0.3006 0.39 0.06 0.32 0.02 0.3119 0.4 . . . . . . . . 1.000 P . . . . -0.932 T 0.000 T . -0.046 3.781 0.089 0.005 0.004 1.748 -0.045708 NA NA 0.399767 0.090331 NA 0.275 NA 5.5483996 1097 6 29695600 29695600 T G ncRNA_intronic HLA-F-AS1 NA NA NA ncRNA_intronic ENSG00000214922 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs9258187 0.19 0.19 0.176 0.230831 0.1183 0.2917 0.1628 0.2632 0.2883 0.12 0.27 0.15 0.24 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514397 NA NA NA NA NA 0.225 NA 5.5483666 1097 4 119161795 119161795 G A exonic NDST3 NA synonymous SNV NDST3:NM_004784:exon11:c.G2235A:p.P745P exonic ENSG00000164100 NA synonymous SNV ENSG00000164100:ENST00000296499:exon11:c.G2235A:p.P745P NA NA 4q26 Score=762;Name=V$MIF1_01 NA NA NA rs617430 0.25 0.25 0.216 0.248403 0.3688 0.2083 0.3588 0.0454 0.362 0.37 0.2 0.36 0.06 0.35 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371036 NA NA 0.400349 0.095325 ID=COSM1131293;OCCURENCE=1(prostate) 0.341 NA 5.5475176 1097 1 162313735 162313735 C T exonic NOS1AP NA synonymous SNV NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S exonic ENSG00000198929 NA synonymous SNV ENSG00000198929:ENST00000361897:exon6:c.C564T:p.S188S,ENSG00000198929:ENST00000430120:exon6:c.C549T:p.S183S,ENSG00000198929:ENST00000530878:exon6:c.C549T:p.S183S NA NA 1q23.3 Score=801;Name=V$PAX3_01 NA NA NA rs3751284 0.42 0.42 0.406 0.430911 0.3549 0.6339 0.451 0.2829 0.4857 0.36 0.64 0.39 0.29 0.4072 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101598 NA NA 0.357093 0.289832 NA 0.377 NA 5.5474736 1097 10 46914641 46914641 T C ncRNA_intronic FAM35BP NA NA NA ncRNA_exonic ENSG00000165874,ENSG00000229927,ENSG00000272430 NA NA NA Score=646;Name=lod=565 NA 10q11.22 NA NA NA NA rs7075258 0.11 0.11 0.076 0.121605 0.1193 0.0546 0.0821 0.211 0.1002 0.1 0.05 0.09 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863859 NA NA NA NA NA NA NA 5.5473666 1097 19 53945618 53945618 A C ncRNA_exonic TPM3P9 NA NA NA ncRNA_exonic ENSG00000241015 NA NA NA Score=652;Name=lod=593 NA 19q13.42 NA NA NA NA rs4803127 0.17 0.17 0.136 0.161941 0.1193 0.2262 0.1599 0.177 0.1207 0.12 0.22 0.16 0.18 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804698 NA NA NA NA NA 0.065 NA 5.5473666 1097 21 15342395 15342395 C T ncRNA_intronic ANKRD20A11P NA NA NA ncRNA_exonic ENSG00000215559 NA NA NA NA NA 21q11.2 NA NA Name=12 NA rs384047 0.13 0.13 0.109 0.130192 0.1193 0.2411 0.1081 0.0681 0.1268 0.12 0.22 0.1 0.05 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646603 NA NA NA NA NA 0.065 NA 5.5473666 1097 9 127957514 127957514 G C intergenic PPP6C,RABEPK dist=5296;dist=5307 NA NA ncRNA_exonic ENSG00000235332 NA NA NA Score=775;Name=lod=1880 NA 9q33.3 NA NA Name=3 NA rs359581 0.49 0.49 0.484 0.494209 0.4533 0.62 0.4813 0.4652 0.455 0.42 0.64 0.48 0.44 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355275 1.355275 NA NA NA NA 0.5 NA 5.5467 1097 16 88695338 88695338 C G intronic ZC3H18 NA NA NA intronic ENSG00000158545 NA NA NA NA NA 16q24.2 NA Name=CTCF,Rad21,SMC3_(ab9263),HMGN3,CTCFL_(SC-98982),CTCF_(C-20),HDAC2_(SC-6296),ZNF263 Name=47 NA rs4782388 0.43 0.43 0.405 0.406749 0.4533 0.5238 0.5216 0.27 0.3415 0.47 0.52 0.46 0.24 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112147 NA NA NA NA NA 0.341 NA 5.5467 1097 19 16197421 16197421 A G intronic TPM4 NA NA NA intronic ENSG00000167460 NA NA NA NA NA 19p13.12 NA Name=Egr-1,Pol2-4H8,GATA-2,HDAC2_(SC-6296),Pol2(b),TAL1_(SC-12984),TCF12,USF-1,GATA2_(CG2-96),c-Myc,NRSF,PU.1,Pol2,IRF4_(M-17),E2F6_(H-50),ETS1,GABP,CTCF,CEBPB,ELF1_(SC-631),Max Name=53 NA rs2303149 0.58 0.58 0.586 0.584065 0.4533 0.7242 0.4236 0.702 0.5286 0.44 0.73 0.46 0.71 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102882 NA NA NA NA NA 0.616 NA 5.5467 1097 7 97944937 97944937 A T intronic BAIAP2L1 NA NA NA intronic ENSG00000006453 NA NA NA NA NA 7q21.3 NA Name=TCF12,TAL1_(SC-12984),PU.1 Name=16 NA rs28495959 0.26 0.26 NA 0.229433 0.3509 0.2113 0.2853 0.1861 0.1421 0.35 0.19 0.27 0.2 0.0248 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.206824 NA NA 0.078195 0.031879 NA 0.007 NA 5.546105 1097 22 37770066 37770066 G T exonic ELFN2 NA synonymous SNV ELFN2:NM_052906:exon3:c.C1509A:p.I503I exonic ENSG00000166897 NA synonymous SNV ENSG00000166897:ENST00000349653:exon1:c.C1509A:p.I503I,ENSG00000166897:ENST00000402918:exon3:c.C1509A:p.I503I Score=507;Name=lod=154 NA 22q13.1 NA NA NA NA rs8142615 0.42 0.42 0.396 0.398962 0.3608 0.3502 0.5403 0.4924 0.2618 0.36 0.36 0.47 0.53 0.3915 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241202 NA NA 0.368574 0.508852 ID=COSM1416128;OCCURENCE=1(large_intestine) 0.435 NA 5.5457926 1097 6 14118034 14118034 G A UTR5 CD83 NM_001040280:c.-9G>A,NM_004233:c.-9G>A NA NA UTR5 ENSG00000112149 ENST00000379153:c.-9G>A NA NA NA NA 6p23 NA Name=E2F6,Pol2-4H8,YY1_(C-20),HA-E2F1,TCF4,YY1,Egr-1,Pol2,PU.1,SP1,POU2F2,EBF,TAF1,E2F6_(H-50),TBP,EBF1_(C-8),TCF12,CTCF,Oct-2,PAX5-C20,PAX5-N19,ELF1_(SC-631),BCL3,NFKB,ZBTB7A_(SC-34508),c-Myc Name=91 NA rs111804875 0.13 0.13 0.182 0.111621 0.2336 0.002 0.1412 0.0961 0.0992 0.24 0.01 0.14 0.12 0.3901 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.172899 3.172899 NA 0.164054 0.083752 NA 0.058 NA 5.5455794 1097 4 126240510 126240510 T C exonic FAT4 NA synonymous SNV FAT4:NM_024582:exon1:c.T2944C:p.L982L exonic ENSG00000196159 NA synonymous SNV ENSG00000196159:ENST00000394329:exon1:c.T2944C:p.L982L Score=371;Name=lod=43 NA 4q28.1 NA NA Name=29 NA rs2940779 0.69 0.69 0.713 0.721046 0.7127 0.4603 0.7291 0.9251 0.7168 0.71 0.45 0.74 0.91 0.7012 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.943482 NA NA 0.707217 0.890481 NA 0.79 NA 5.5455496 1097 19 56719853 56719853 C A intergenic ZSCAN5B,ZSCAN5A dist=15432;dist=12826 NA NA exonic ENSG00000204532 NA nonsynonymous SNV ENSG00000204532:ENST00000376267:exon4:c.C775A:p.Q259K,ENSG00000204532:ENST00000534327:exon5:c.C775A:p.Q259K NA NA 19q13.43 NA NA NA NA rs1865102 0.62 0.62 0.599 0.665935 0.6521 0.6964 0.719 0.652 0.6299 0.62 0.66 0.64 0.57 0.636 0.66 0.69 T . . . . . . 1.000 P . . 3.28 T -1.092 T 0.000 T 0.12 -1.876 0.008 1.29 1.039 . 8.477 -1.876408 NA 1 NA NA NA 0.587 NA 5.5452334 1097 6 30530245 30530245 T C exonic PRR3 NA synonymous SNV PRR3:NM_001077497:exon3:c.T477C:p.H159H,PRR3:NM_025263:exon4:c.T540C:p.H180H exonic ENSG00000204576 NA synonymous SNV ENSG00000204576:ENST00000376557:exon3:c.T477C:p.H159H,ENSG00000204576:ENST00000376560:exon4:c.T540C:p.H180H Score=614;Name=lod=416 NA 6p21.33 Score=777;Name=V$PAX6_01 NA NA NA rs2074504 0.72 0.72 0.744 0.752596 0.6988 0.6994 0.6153 0.8419 0.8395 0.71 0.72 0.6 0.81 0.7215 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602981 NA NA 0.701328 0.838575 NA 0.797 NA 5.5450386 1098 21 45959386 45959386 G A exonic KRTAP10-1 NA synonymous SNV KRTAP10-1:NM_198691:exon1:c.C648T:p.C216C exonic ENSG00000215455 NA synonymous SNV ENSG00000215455:ENST00000400375:exon1:c.C648T:p.C216C Score=259;Name=lod=15 NA 21q22.3 NA NA NA NA rs233318 0.49 0.49 0.418 0.574481 0.6203 0.4683 0.5634 0.671 0.5143 0.49 0.41 0.58 0.53 0.5014 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.07179 NA NA NA NA NA 0.029 NA 5.5449666 1098 2 231775297 231775297 T G exonic GPR55 NA synonymous SNV GPR55:NM_005683:exon2:c.A381C:p.L127L exonic ENSG00000135898 NA synonymous SNV ENSG00000135898:ENST00000392039:exon2:c.A381C:p.L127L,ENSG00000135898:ENST00000392040:exon2:c.A381C:p.L127L,ENSG00000135898:ENST00000438398:exon2:c.A381C:p.L127L,ENSG00000135898:ENST00000444078:exon2:c.A381C:p.L127L Score=423;Name=lod=70 NA 2q37.1 NA NA NA NA rs1992186 0.44 0.44 0.485 0.496206 0.3489 0.2679 0.3199 0.9153 0.4417 0.34 0.26 0.36 0.87 0.3909 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238281 NA NA 0.382093 0.817749 NA 0.413 NA 5.5447736 1098 15 42162713 42162713 G A exonic SPTBN5 NA synonymous SNV SPTBN5:NM_016642:exon30:c.C5493T:p.H1831H exonic ENSG00000137877 NA synonymous SNV ENSG00000137877:ENST00000320955:exon30:c.C5493T:p.H1831H NA NA 15q15.1 NA NA NA NA rs61753871 0.03 0.03 0.024 0.0301518 0.0378 0.0129 0.0533 0.0008 0.0634 0.04 0.02 0.06 NA 0.0455 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036614 NA NA 0.038627 0.007104 NA 0.022 NA 5.5447396 1098 9 127957070 127957070 A G intergenic PPP6C,RABEPK dist=4852;dist=5751 NA NA ncRNA_exonic ENSG00000235332 NA NA NA Score=633;Name=lod=498 NA 9q33.3 NA NA Name=3 NA rs359584 0.45 0.45 0.415 0.453674 0.4553 0.5407 0.3458 0.4584 0.4325 0.42 0.55 0.38 0.42 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090254 NA NA NA NA NA 0.435 NA 5.5447 1098 12 4714008 4714008 T G intronic DYRK4 NA NA NA intronic ENSG00000010219 NA NA NA NA NA 12p13.32 NA Name=CTCF,GTF2F1_(RAP-74),CEBPB,Max,ELF1_(SC-631),Rad21,Pol2,PU.1,SMC3_(ab9263),YY1_(C-20),IRF4_(M-17),TAF1,Znf143_(16618-1-AP),USF-1,TBP,c-Myc,NFKB,HEY1,PAX5-C20,SIX5,CTCF_(C-20),CTCF_(SC-5916),RFX5_(N-494),Ini1,Sin3Ak-20,KAP1 Name=147 NA rs2286576 0.68 0.68 0.719 0.699681 0.4553 0.8631 0.5389 0.8525 0.6902 0.46 0.89 0.55 0.88 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409913 NA NA NA NA NA 0.71 NA 5.5447 1098 16 2867450 2867450 G C exonic PRSS21 NA synonymous SNV PRSS21:NM_001270452:exon2:c.G84C:p.P28P,PRSS21:NM_006799:exon2:c.G84C:p.P28P,PRSS21:NM_144956:exon2:c.G84C:p.P28P,PRSS21:NM_144957:exon2:c.G84C:p.P28P exonic ENSG00000007038 NA nonsynonymous SNV ENSG00000007038:ENST00000570629:exon2:c.G76C:p.V26L NA NA 16p13.3 NA NA Name=13 NA rs71386691 0.46 0.46 0.388 0.470248 0.5129 0.2738 0.5447 0.5696 0.4417 0.48 0.28 0.51 0.58 0.5022 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.31154 1.31154 NA 0.44024 0.494014 NA NA NA 5.54466 1098 19 15890626 15890626 G A ncRNA_exonic CYP4F24P NA NA NA ncRNA_exonic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA Name=19 NA rs55782900 0.08 0.08 NA 0.0804712 0.1223 0.0575 0.1052 0.0635 0.0665 0.11 0.06 0.11 0.04 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119041 NA NA NA NA NA NA NA 5.5443666 1098 19 15890725 15890725 G T ncRNA_exonic CYP4F24P NA NA NA ncRNA_exonic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA Name=19 NA rs56378626 0.09 0.09 0.084 0.0806709 0.1223 0.0575 0.1052 0.0635 0.0675 0.11 0.07 0.11 0.06 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280315 NA NA NA NA NA 0.123 NA 5.5443666 1098 3 48677895 48677895 A T exonic CELSR3 NA synonymous SNV CELSR3:NM_001407:exon34:c.T9123A:p.A3041A exonic ENSG00000008300 NA synonymous SNV ENSG00000008300:ENST00000164024:exon34:c.T9123A:p.A3041A,ENSG00000008300:ENST00000544264:exon35:c.T9138A:p.A3046A NA NA 3p21.31 NA NA NA NA rs1264195 0.02 0.02 0.019 0.0139776 0.0487 NA 0.0173 0.0023 0.0061 0.04 NA 0.02 NA 0.0327 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163005 NA NA 0.041385 0.007036 NA NA NA 5.5438816 1098 9 74764627 74764627 C G intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA Name=SMC3_(ab9263),Pol2,Ini1,SUZ12 Name=20 NA rs3802506 0.17 0.17 0.159 0.163738 0.1531 0.0754 0.1513 0.3147 0.0706 0.15 0.08 0.15 0.31 0.1535 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.031091 3.031091 NA 0.150187 0.275435 NA 0.109 NA 5.543213 1098 1 64624842 64624842 A G exonic ROR1 NA synonymous SNV ROR1:NM_005012:exon8:c.A1353G:p.V451V exonic ENSG00000185483 NA synonymous SNV ENSG00000185483:ENST00000371079:exon8:c.A1353G:p.V451V Score=490;Name=lod=131 NA 1p31.3 NA NA NA NA rs6668545 0.37 0.37 0.353 0.345847 0.3966 0.4127 0.3588 0.2171 0.3896 0.41 0.45 0.41 0.2 0.3592 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453238 1.453238 NA 0.367674 0.227417 NA 0.391 NA 5.5431926 1098 20 55033476 55033476 C G exonic CASS4 NA synonymous SNV CASS4:NM_001164115:exon5:c.C723G:p.L241L,CASS4:NM_001164114:exon6:c.C1872G:p.L624L,CASS4:NM_020356:exon6:c.C2034G:p.L678L,CASS4:NM_001164116:exon7:c.C2034G:p.L678L exonic ENSG00000087589 NA synonymous SNV ENSG00000087589:ENST00000434344:exon5:c.C723G:p.L241L,ENSG00000087589:ENST00000371336:exon6:c.C2034G:p.L678L,ENSG00000087589:ENST00000360314:exon7:c.C2034G:p.L678L Score=466;Name=lod=104 NA 20q13.31 NA NA NA NA rs3746623 0.51 0.51 0.486 0.525958 0.339 0.9196 0.5231 0.416 0.4632 0.32 0.92 0.46 0.38 0.4445 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664764 NA NA 0.34 0.404675 NA 0.326 NA 5.5431666 1098 2 113875428 113875428 G A upstream IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA Name=GATA-1,Egr-1,STAT3,Pol2,c-Myc Name=92 NA rs2234676 0.18 0.18 0.146 0.185903 0.2903 0.1091 0.3213 0.0174 0.2894 0.29 0.09 0.31 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415075 NA NA NA NA NA 0.239 NA 5.5430333 1098 2 215645464 215645464 C G exonic BARD1 NA nonsynonymous SNV BARD1:NM_000465:exon4:c.G1134C:p.R378S exonic ENSG00000138376 NA nonsynonymous SNV ENSG00000138376:ENST00000449967:exon3:c.G702C:p.R234S,ENSG00000138376:ENST00000260947:exon4:c.G1134C:p.R378S NA NA 2q35 NA NA NA NA rs2229571 0.49 0.49 0.462 0.459265 0.6412 0.3413 0.4914 0.379 0.4796 0.65 0.35 0.55 0.35 0.5487 0.65 0.77 T 0.031 B 0.015 B 0.079 N 1.000 P 1.3 L -0.04 T -0.921 T 0.000 T 0.294 1.451 10.79 -1.03 0.096 -0.601 2.531 1.450728 1.450728 0.15 0.600814 0.397186 NA 0.493 NA 5.5426194 1098 2 105012664 105012664 C T ncRNA_intronic LOC100287010 NA NA NA ncRNA_exonic ENSG00000233955 NA NA NA Score=652;Name=lod=597 NA 2q12.1 NA NA NA NA rs908916 0.12 0.12 0.099 0.108227 0.1243 0.2063 0.1153 0.0197 0.1053 0.12 0.23 0.1 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491288 NA NA NA NA NA 0.188 NA 5.5423666 1098 3 10420087 10420087 T C exonic ATP2B2 NA synonymous SNV ATP2B2:NM_001683:exon7:c.A915G:p.Q305Q,ATP2B2:NM_001001331:exon10:c.A1050G:p.Q350Q exonic ENSG00000157087 NA synonymous SNV ENSG00000157087:ENST00000452124:exon6:c.A618G:p.Q206Q,ENSG00000157087:ENST00000383800:exon7:c.A915G:p.Q305Q,ENSG00000157087:ENST00000460129:exon7:c.A915G:p.Q305Q,ENSG00000157087:ENST00000343816:exon9:c.A1008G:p.Q336Q,ENSG00000157087:ENST00000352432:exon9:c.A1050G:p.Q350Q,ENSG00000157087:ENST00000397077:exon9:c.A915G:p.Q305Q,ENSG00000157087:ENST00000360273:exon10:c.A1050G:p.Q350Q Score=507;Name=lod=153 NA 3p25.3 NA NA NA NA rs751122 0.45 0.45 0.451 0.493211 0.3708 0.6994 0.317 0.4418 0.6012 0.37 0.66 0.34 0.42 0.4092 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223431 NA NA 0.344651 0.392873 NA 0.449 NA 5.5420156 1098 7 25267963 25267963 G C exonic NPVF NA nonsynonymous SNV NPVF:NM_022150:exon1:c.C96G:p.I32M exonic ENSG00000105954 NA nonsynonymous SNV ENSG00000105954:ENST00000222674:exon1:c.C96G:p.I32M NA NA 7p15.3 NA NA NA NA rs886354 0.96 0.96 0.962 0.97484 0.9245 1 0.9553 0.9955 0.9867 0.91 1 0.96 0.99 0.9446 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.095 N 2.01 T -0.979 T 0.000 T 0.152 -2.703 0 4.47 0.618 -0.261 5.513 -2.702686 NA 1 0.922315 0.985909 NA 0.949 NA 5.5419184 1098 10 121201616 121201616 C T intronic GRK5 NA NA NA intronic ENSG00000198873 NA NA NA NA NA 10q26.11 NA Name=PAX5-N19,PAX5-C20 Name=3 NA rs2275043 0.22 0.22 0.239 0.220647 0.159 0.1538 0.2839 0.3548 0.1268 0.15 0.16 0.27 0.38 0.1636 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443251 NA NA 0.135698 0.289832 NA 0.196 NA 5.541702 1098 1 209788703 209788703 T C exonic LAMB3 NA synonymous SNV LAMB3:NM_001017402:exon22:c.A3432G:p.S1144S,LAMB3:NM_000228:exon23:c.A3432G:p.S1144S,LAMB3:NM_001127641:exon23:c.A3432G:p.S1144S exonic ENSG00000196878 NA synonymous SNV ENSG00000196878:ENST00000391911:exon22:c.A3432G:p.S1144S,ENSG00000196878:ENST00000356082:exon23:c.A3432G:p.S1144S,ENSG00000196878:ENST00000367030:exon23:c.A3432G:p.S1144S NA NA 1q32.2 NA NA Name=4 NA rs1049607 0.44 0.44 0.435 0.463259 0.3648 0.381 0.3689 0.6694 0.4376 0.37 0.38 0.38 0.63 0.4019 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864469 NA NA 0.35907 0.600545 NA 0.587 NA 5.5408966 1098 2 228736313 228736313 G T upstream DAW1 NA NA NA UTR5 ENSG00000123977 ENST00000373666:c.-93G>T NA NA NA NA 2q36.3 NA Name=Max,Nrf1,TAF1 Name=95 NA rs12478068 0.47 0.47 0.437 0.495008 0.4592 0.4702 0.6254 0.4796 0.4857 0.45 0.44 0.59 0.46 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943602 NA NA NA NA NA 0.471 NA 5.5408 1098 8 30924557 30924557 C T exonic WRN NA synonymous SNV WRN:NM_000553:exon6:c.C513T:p.C171C exonic ENSG00000165392 NA synonymous SNV ENSG00000165392:ENST00000298139:exon6:c.C513T:p.C171C NA NA 8p12 NA Name=FOXA1_(C-20) NA NA rs1800389 0.73 0.73 0.682 0.6873 0.7087 0.87 0.7939 0.4902 0.6677 0.73 0.88 0.78 0.51 0.7032 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706964 NA NA 0.714186 0.535633 NA 0.703 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118881.1;CLNDSDB=.;CLNDSDBID=. 5.5405806 1098 9 99525909 99525909 T C exonic ZNF510 NA synonymous SNV ZNF510:NM_014930:exon4:c.A135G:p.S45S exonic ENSG00000081386 NA synonymous SNV ENSG00000081386:ENST00000223428:exon4:c.A135G:p.S45S,ENSG00000081386:ENST00000374641:exon4:c.A135G:p.S45S,ENSG00000081386:ENST00000375231:exon4:c.A135G:p.S45S NA NA 9q22.33 NA NA NA NA rs10978862 0.15 0.15 0.18 0.148363 0.0308 0.2073 0.0519 0.2837 0.0941 0.03 0.25 0.06 0.31 0.0712 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.95442 NA NA 0.024186 0.221743 NA 0.109 NA 5.5404806 1098 5 57913379 57913379 A G intronic RAB3C NA NA NA intronic ENSG00000152932 NA NA NA NA NA 5q11.2 Score=747;Name=V$STAT3_01 Name=ZNF263 NA NA rs2279980 0.31 0.31 0.323 NA NA NA NA NA NA 0.21 0.38 0.23 0.45 0.2541 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56454 NA NA 0.205424 0.452055 NA 0.37 NA 5.540476 1098 7 100373367 100373367 G C exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon33:c.G6101C:p.S2034T,ENSG00000146839:ENST00000542585:exon33:c.G6101C:p.S2034T,ENSG00000146839:ENST00000546213:exon33:c.G1634C:p.S545T,ENSG00000146839:ENST00000546292:exon33:c.G6101C:p.S2034T NA NA 7q22.1 NA NA NA NA rs539445 0.47 0.47 0.424 0.445088 0.3419 0.7867 0.5418 0.2126 0.4448 0.35 0.82 0.52 0.21 0.4251 0.82 0.81 T 0.0 B 0.0 B 0.082 N 1.000 P . . 0.24 T -0.970 T 0.000 T 0.266 -0.282 2.652 0.773 0.016 -0.246 4.091 -0.281823 NA NA 0.360789 0.22506 NA 0.297 NA 5.5388777 1098 12 52184271 52184271 T C exonic SCN8A NA synonymous SNV SCN8A:NM_001177984:exon24:c.T4386C:p.P1462P,SCN8A:NM_014191:exon25:c.T4509C:p.P1503P exonic ENSG00000196876 NA synonymous SNV ENSG00000196876:ENST00000355133:exon23:c.T4386C:p.P1462P,ENSG00000196876:ENST00000545061:exon23:c.T4386C:p.P1462P,ENSG00000196876:ENST00000354534:exon25:c.T4509C:p.P1503P Score=405;Name=lod=59 NA 12q13.13 NA NA NA NA rs303815 0.59 0.59 0.546 0.503794 0.7306 0.5724 0.7493 0.3003 0.3006 0.73 0.53 0.72 0.34 0.65 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84208 NA NA 0.747211 0.371088 NA 0.478 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118283.2;CLNDSDB=.;CLNDSDBID=. 5.5388556 1098 3 172353572 172353572 A G intronic NCEH1 NA NA NA intronic ENSG00000144959 NA NA NA NA NA 3q26.31 NA Name=eGFP-JunD,c-Fos,PU.1,PAX5-C20,PAX5-N19,CTCF_(C-20),eGFP-FOS,NFKB Name=63 NA rs234012 0.45 0.45 0.456 0.414736 0.4612 0.3065 0.3573 0.6044 0.2628 0.46 0.32 0.37 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314974 NA NA NA NA NA 0.384 NA 5.5388 1098 15 75146371 75146371 C T exonic SCAMP2 NA synonymous SNV SCAMP2:NM_005697:exon3:c.G216A:p.P72P exonic ENSG00000140497 NA synonymous SNV ENSG00000140497:ENST00000562363:exon2:c.G147A:p.P49P,ENSG00000140497:ENST00000566480:exon2:c.G96A:p.P32P,ENSG00000140497:ENST00000268099:exon3:c.G216A:p.P72P,ENSG00000140497:ENST00000564529:exon3:c.G216A:p.P72P,ENSG00000140497:ENST00000569904:exon3:c.G216A:p.P72P NA NA 15q24.1 NA NA NA NA rs77456595 0.02 0.02 0.026 0.0147764 0.0487 0.001 0.0216 0.0023 0.0061 0.05 NA 0.02 0.0041 0.0345 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486199 NA NA 0.044936 0.009786 NA 0.022 NA 5.5385306 1098 2 130951584 130951584 T C exonic TUBA3E NA synonymous SNV TUBA3E:NM_207312:exon4:c.A831G:p.S277S exonic ENSG00000152086 NA synonymous SNV ENSG00000152086:ENST00000312988:exon4:c.A831G:p.S277S Score=602;Name=lod=374 NA 2q21.1 NA NA NA NA rs7340507 0.42 0.42 0.32 0.46885 0.3628 0.4365 0.5014 0.587 0.4284 0.32 0.43 0.46 0.56 0.4117 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.974221 NA NA 0.353837 0.520654 NA 0.449 NA 5.5383296 1098 9 35107765 35107765 C A exonic FAM214B NA synonymous SNV FAM214B:NM_025182:exon3:c.G507T:p.G169G exonic ENSG00000005238 NA synonymous SNV ENSG00000005238:ENST00000378561:exon2:c.G507T:p.G169G,ENSG00000005238:ENST00000322813:exon3:c.G507T:p.G169G,ENSG00000005238:ENST00000378554:exon3:c.G507T:p.G169G,ENSG00000005238:ENST00000378557:exon3:c.G507T:p.G169G,ENSG00000005238:ENST00000488109:exon3:c.G507T:p.G169G,ENSG00000005238:ENST00000603301:exon3:c.G507T:p.G169G,ENSG00000005238:ENST00000605244:exon3:c.G507T:p.G169G NA NA 9p13.3 Score=793;Name=V$OLF1_01 NA NA NA rs13287211 0.21 0.21 0.161 0.187101 0.3936 0.003 0.4424 0.0197 0.2096 0.4 0.0035 0.41 0.03 0.3408 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241048 NA NA 0.393953 0.072698 NA 0.261 NA 5.5383136 1098 4 164087954 164087954 A T UTR5 NAF1 NM_001128931:c.-75T>A,NM_138386:c.-75T>A NA NA UTR5 ENSG00000145414 ENST00000422287:c.-75T>A,ENST00000274054:c.-75T>A NA NA NA NA 4q32.2 NA Name=E2F4,GATA-1,TAF1,E2F6_(H-50),c-Fos,GATA-2,Pol2-4H8,E2F6,Sin3Ak-20,YY1_(C-20),TCF4,Egr-1,Pol2,SP1,Mxi1_(bHLH),HEY1,Max,c-Myc,CEBPB,IRF1,TBP Name=148 NA rs936562 0.81 0.81 0.783 0.810304 0.7952 0.7877 0.7925 0.82 0.8487 0.8 0.8 0.81 0.83 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633982 NA NA NA NA NA 0.87 NA 5.5381334 1098 16 69973825 69973825 G A exonic WWP2 NA synonymous SNV WWP2:NM_199424:exon14:c.G1278A:p.E426E,WWP2:NM_001270453:exon21:c.G2247A:p.E749E,WWP2:NM_001270454:exon24:c.G2595A:p.E865E,WWP2:NM_007014:exon25:c.G2595A:p.E865E exonic ENSG00000198373 NA synonymous SNV ENSG00000198373:ENST00000568684:exon14:c.G1278A:p.E426E,ENSG00000198373:ENST00000542271:exon21:c.G2247A:p.E749E,ENSG00000198373:ENST00000356003:exon23:c.G2595A:p.E865E,ENSG00000198373:ENST00000359154:exon24:c.G2595A:p.E865E,ENSG00000198373:ENST00000448661:exon24:c.G2595A:p.E865E Score=498;Name=lod=141 NA 16q22.1 NA NA NA NA rs3748389 0.49 0.49 0.481 0.528355 0.3449 0.8819 0.3862 0.3994 0.6278 0.33 0.86 0.42 0.36 0.4298 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141207 NA NA 0.35407 0.371474 ID=COSM435647;OCCURENCE=1(breast) 0.435 NA 5.5378966 1098 19 42365004 42365004 G C intronic RPS19 NA NA NA intronic ENSG00000105372 NA NA NA NA NA 19q13.2 NA Name=SP1,Pol2 Name=67 NA rs2075749 0.56 0.56 0.542 0.560503 0.4622 0.5069 0.5447 0.7753 0.4376 0.48 0.55 0.49 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474849 NA NA NA NA NA 0.58 NA 5.5378 1098 20 36959318 36959318 G A intronic BPI NA NA NA intronic ENSG00000101425 NA NA NA NA NA 20q11.23 NA Name=HDAC2_(SC-6296),SP1,HNF4A,RXRA Name=6 NA rs5743533 0.36 0.36 0.361 0.3748 0.4622 0.1448 0.4784 0.4115 0.3988 0.46 0.11 0.44 0.43 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328219 NA NA NA NA NA 0.391 NA 5.5378 1098 9 136405965 136405965 C A intronic ADAMTSL2 NA NA NA intronic ENSG00000197859 NA NA NA NA NA 9q34.2 NA Name=CTCF,Rad21,CTCF_(SC-5916),CTCF_(C-20) Name=14 NA rs28504582 0.09 0.09 0.08 0.0656949 0.169 0.0109 0.0893 0.0469 0.0245 0.16 0.01 0.1 0.05 0.1182 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.890223 1.890223 NA 0.175116 0.056741 NA 0.051 NA 5.537684 1098 1 215848587 215848587 T C exonic USH2A NA synonymous SNV USH2A:NM_206933:exon63:c.A12666G:p.T4222T exonic ENSG00000042781 NA synonymous SNV ENSG00000042781:ENST00000307340:exon63:c.A12666G:p.T4222T,ENSG00000042781:ENST00000366943:exon63:c.A12666G:p.T4222T NA NA 1q41 NA NA NA NA rs2797234 0.31 0.31 0.275 0.303115 0.3738 0.3155 0.4539 0.1793 0.2781 0.37 0.26 0.43 0.19 0.3651 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743572 NA NA 0.390349 0.223105 ID=COSM146764;OCCURENCE=1(stomach) 0.326 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041726.1|RCV000126268.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.5374176 1098 11 118971251 118971251 A G intronic DPAGT1 NA NA NA intronic ENSG00000172269 NA NA NA NA NA 11q23.3 NA Name=Rad21,CTCF,ZNF263,CTCF_(C-20) Name=135 NA rs649870 0.45 0.45 0.441 0.457668 0.4632 0.631 0.3069 0.3366 0.544 0.45 0.63 0.35 0.3 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683279 NA NA NA NA NA 0.493 NA 5.5368 1098 14 106134806 106134806 G A intergenic TMEM121,ELK2AP dist=138267;dist=1108 NA NA ncRNA_exonic ENSG00000253755 NA NA NA Score=333;Name=lod=30 NA 14q32.33 NA Name=ERalpha_a NA NA rs10144746 0.3 0.3 0.196 0.314896 0.4632 0.5367 0.2882 0.0189 0.3528 0.44 0.35 0.28 0.02 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.625072 NA NA NA NA NA NA NA 5.5368 1098 4 16258163 16258163 C T ncRNA_exonic TAPT1-AS1 NA NA NA ncRNA_exonic ENSG00000242358,ENSG00000263327 NA NA NA NA NA 4p15.32 NA Name=CTCF_(SC-5916) NA NA rs10027456 0.15 0.15 0.128 0.143371 0.1302 0.2589 0.111 0.0499 0.1871 0.12 0.27 0.12 0.07 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284529 NA NA NA NA NA 0.094 NA 5.5364666 1098 2 170550727 170550727 G T intronic CCDC173 NA NA NA intronic ENSG00000154479 NA NA NA NA NA 2q31.1 NA Name=CTCF,HA-E2F1,KAP1 Name=2 NA rs11690884 0.08 0.08 0.082 0.0772764 0.168 0.0248 0.0807 0.025 0.1063 0.15 0.02 0.09 0.04 0.1276 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040042 NA NA 0.168263 0.053536 NA 0.101 NA 5.536137 1098 17 7306727 7306727 A G ncRNA_intronic C17orf61-PLSCR3 NA NA NA intronic ENSG00000187838,ENSG00000205544,ENSG00000262481 NA NA NA NA NA 17p13.1 NA Name=RXRA,HNF4G_(SC-6558),FOXA1_(SC-101058),FOXA2_(SC-6554),HNF4A,SP1,HDAC2_(SC-6296),HNF4A_(H-171),FOXA1_(C-20) Name=22 NA rs17882626 0.2 0.2 0.187 0.165136 0.2843 0.1994 0.1686 0.0492 0.1616 0.3 0.19 0.2 0.05 0.23 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170648 NA NA 0.28314 0.096686 NA 0.174 NA 5.5358933 1098 1 5935162 5935162 A T splicing NPHP4 NM_015102:exon22:c.2818-2T>A NA NA splicing ENSG00000131697 ENST00000489180:exon25:c.3365-2T>A,ENST00000378156:exon22:c.2818-2T>A,ENST00000378169:exon19:c.2508-2T>A NA NA Score=300;Name=lod=22 NA 1p36.31 NA NA NA NA rs1287637 0.83 0.83 0.82 0.843251 0.8111 0.7907 0.8401 0.91 0.8425 0.81 0.83 0.81 0.88 0.8362 0.89 . . . . . . . . 0.000 P . . . . . . . . . 0.905 8.681 4.93 0.745 0.452 6.573 0.905064 NA NA 0.817231 0.893793 NA 0.71 NA 5.535469 1099 17 76133746 76133746 A G intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA Name=CTCF,eGFP-JunB,c-Myc Name=21 NA rs12449680 0.37 0.37 0.374 0.375998 0.2396 0.3968 0.4107 0.4697 0.3436 0.25 0.44 0.41 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01251 NA NA 0.225433 0.425064 NA 0.304 NA 5.534967 1099 7 143086832 143086832 T C intronic ZYX NA NA NA intronic ENSG00000159840 NA NA NA NA NA 7q34 Score=902;Name=V$CEBPB_01 NA Name=65 NA rs10266621 0.64 0.64 0.636 0.638179 0.4652 0.7718 0.6715 0.7943 0.4438 0.45 0.78 0.65 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523429 NA NA NA NA NA 0.486 NA 5.5348 1099 8 23340738 23340738 G C intergenic ENTPD4,SLC25A37 dist=25494;dist=45625 NA NA ncRNA_exonic ENSG00000253483 NA NA NA Score=705;Name=lod=973 NA 8p21.2 NA Name=CTCF,NRSF NA NA rs6557676 0.59 0.59 0.541 0.574681 0.4652 0.5863 0.6571 0.6089 0.5706 0.48 0.61 0.63 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.328608 NA NA NA NA NA 0.391 NA 5.5348 1099 17 6561192 6561192 T G ncRNA_exonic ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=2364;dist=26840 NA NA Score=317;Name=lod=26 NA 17p13.1 NA Name=USF-1 NA NA rs1808214 0.59 0.59 0.597 0.61262 0.4652 0.7212 0.611 0.6626 0.5859 0.46 0.69 0.59 0.66 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.864114 1.864114 NA NA NA NA 0.739 NA 5.5348 1099 6 33235755 33235755 G A exonic VPS52 NA synonymous SNV VPS52:NM_022553:exon9:c.C820T:p.L274L exonic ENSG00000223501 NA synonymous SNV ENSG00000223501:ENST00000436044:exon9:c.C445T:p.L149L,ENSG00000223501:ENST00000445902:exon9:c.C820T:p.L274L Score=540;Name=lod=208 NA 6p21.32 NA NA NA NA rs213199 0.45 0.45 0.482 0.444688 0.3847 0.5823 0.3761 0.4501 0.4059 0.37 0.61 0.33 0.47 0.3881 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120408 NA NA 0.359542 0.427201 NA 0.42 NA 5.5343246 1099 15 45779810 45779810 G A exonic SLC30A4 NA synonymous SNV SLC30A4:NM_013309:exon6:c.C915T:p.D305D exonic ENSG00000104154 NA synonymous SNV ENSG00000104154:ENST00000261867:exon6:c.C915T:p.D305D Score=651;Name=lod=590 NA 15q21.1 Score=866;Name=V$TAL1ALPHAE47_01 NA NA NA rs2453531 0.75 0.75 0.765 0.760783 0.7177 0.7034 0.6095 0.9092 0.771 0.71 0.73 0.65 0.9 0.7149 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026365 NA NA 0.699744 0.869199 NA 0.739 NA 5.5343226 1099 21 41137499 41137499 A G exonic IGSF5 NA synonymous SNV IGSF5:NM_001080444:exon3:c.A138G:p.Q46Q exonic ENSG00000183067 NA synonymous SNV ENSG00000183067:ENST00000380588:exon3:c.A138G:p.Q46Q Score=352;Name=lod=36 NA 21q22.2 NA NA NA NA rs12626544 0.4 0.4 0.386 0.395966 0.3926 0.4702 0.5389 0.2027 0.4826 0.41 0.48 0.5 0.21 0.3947 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001046 NA NA 0.345581 0.225148 NA 0.304 NA 5.5337856 1099 7 112724795 112724795 G T UTR5 GPR85 NM_001146266:c.-19C>A,NM_001146267:c.-19C>A,NM_018970:c.-19C>A,NM_001146265:c.-19C>A NA NA UTR5 ENSG00000164604 ENST00000501255:c.-19C>A,ENST00000297146:c.-19C>A,ENST00000424100:c.-19C>A,ENST00000449591:c.-19C>A,ENST00000449735:c.-19C>A,ENST00000438062:c.-19C>A NA NA Score=812;Name=lod=2662 NA 7q31.1 NA NA Name=4 NA rs1575012 0.18 0.18 0.173 0.199281 0.2714 0.0308 0.2032 0.2163 0.273 0.27 0.02 0.2 0.22 0.255 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.58452 1.58452 NA 0.27333 0.215388 NA 0.326 NA 5.5336034 1099 6 29760149 29760149 G T ncRNA_exonic HCG4 NA NA NA ncRNA_exonic ENSG00000176998 NA NA NA NA NA 6p22.1 NA Name=YY1_(C-20) NA NA rs7764777 0.18 0.18 0.193 0.207867 0.1332 0.128 0.1484 0.3828 0.1728 0.12 0.14 0.16 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017832 NA NA NA NA NA 0.174 NA 5.5334666 1099 19 50563208 50563208 C T ncRNA_intronic FLJ26850 NA NA NA ncRNA_exonic ENSG00000269540 NA NA NA Score=343;Name=lod=33 NA 19q13.33 NA NA NA NA rs12611180 0.17 0.17 0.16 0.143171 0.1332 0.3383 0.1182 0.031 0.1217 0.15 0.32 0.13 0.04 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23698 NA 0 NA NA NA 0.181 NA 5.5334666 1099 12 42503467 42503467 T C exonic GXYLT1 NA synonymous SNV GXYLT1:NM_001099650:exon3:c.A420G:p.T140T,GXYLT1:NM_173601:exon4:c.A513G:p.T171T exonic ENSG00000151233 NA synonymous SNV ENSG00000151233:ENST00000280876:exon3:c.A420G:p.T140T,ENSG00000151233:ENST00000398675:exon4:c.A513G:p.T171T Score=407;Name=lod=60 NA 12q12 NA NA NA NA rs7312933 0.33 0.33 0.316 0.352037 0.3787 0.4365 0.3012 0.2012 0.4775 0.39 0.39 0.27 0.2 0.3807 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.133972 NA NA 0.373893 0.232926 NA 0.297 NA 5.5333736 1099 19 19626769 19626769 C T upstream NDUFA13,TSSK6 NA NA NA UTR5 ENSG00000178093,ENSG00000186010 ENST00000360913:c.-533G>A;ENST00000502506:c.-279C>T,ENST00000507754:c.-279C>T NA NA NA NA 19p13.11 NA Name=ELF1_(SC-631),CTCF,E2F6,Pol2,Pol2(b),KAP1,Pol2-4H8,HA-E2F1 Name=18 NA rs17684164 0.12 0.12 0.122 0.11901 0.17 NA 0.1167 0.1634 0.1309 0.15 NA 0.14 0.21 0.1448 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90446 NA NA 0.151954 0.150705 NA 0.123 NA 5.533246 1099 4 185012387 185012387 C T exonic ENPP6 NA synonymous SNV ENPP6:NM_153343:exon8:c.G1266A:p.P422P exonic ENSG00000164303 NA synonymous SNV ENSG00000164303:ENST00000296741:exon8:c.G1266A:p.P422P NA NA 4q35.1 NA NA NA NA rs28495394 0.1 0.1 0.124 0.116813 0.0398 0.004 0.0591 0.3616 0.0225 0.03 0.0035 0.07 0.34 0.0585 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18781 NA NA 0.035233 0.286655 NA 0.152 NA 5.5331336 1099 11 18793360 18793360 T C intronic PTPN5 NA NA NA intronic ENSG00000110786 NA NA NA NA NA 11p15.1 NA Name=USF-1 Name=5 NA rs4075664 0.54 0.54 0.515 0.539137 0.4672 0.8631 0.5821 0.2693 0.6135 0.47 0.88 0.52 0.27 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370798 NA NA NA NA NA 0.514 NA 5.5328 1099 14 106134628 106134628 C G intergenic TMEM121,ELK2AP dist=138089;dist=1286 NA NA ncRNA_exonic ENSG00000253755 NA NA NA NA NA 14q32.33 NA Name=Pol2 Name=5 NA rs10144455 0.45 0.45 0.397 0.485823 0.4672 0.503 0.3386 0.6596 0.3569 0.43 0.3 0.3 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135413 NA NA NA NA NA NA NA 5.5328 1099 5 127614472 127614472 A G exonic FBN2 NA synonymous SNV FBN2:NM_001999:exon57:c.T7200C:p.S2400S exonic ENSG00000138829 NA synonymous SNV ENSG00000138829:ENST00000262464:exon57:c.T7200C:p.S2400S,ENSG00000138829:ENST00000508053:exon63:c.T7200C:p.S2400S Score=558;Name=lod=247 NA 5q23.3 NA NA NA NA rs190450 0.73 0.73 0.733 0.726637 0.7048 0.8532 0.7118 0.6097 0.7873 0.72 0.86 0.69 0.62 0.7281 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.38594 1.38594 NA 0.701395 0.632093 NA 0.507 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117030.1|RCV000125075.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.5323716 1099 8 100990177 100990177 A G exonic RGS22 NA synonymous SNV RGS22:NM_015668:exon23:c.T3487C:p.L1163L exonic ENSG00000132554 NA synonymous SNV ENSG00000132554:ENST00000517843:exon1:c.T103C:p.L35L,ENSG00000132554:ENST00000523287:exon21:c.T2944C:p.L982L,ENSG00000132554:ENST00000360863:exon23:c.T3487C:p.L1163L,ENSG00000132554:ENST00000523437:exon23:c.T3451C:p.L1151L NA NA 8q22.2 NA NA NA NA rs7841915 0.08 0.08 0.078 0.0748802 0.0477 0.0456 0.0461 0.1483 0.0542 0.05 0.05 0.06 0.17 0.0505 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.08984 NA NA 0.036382 0.113966 NA 0.065 NA 5.5320846 1099 4 70172472 70172472 C T intergenic UGT2B28,UGT2B4 dist=11704;dist=173411 NA NA ncRNA_exonic ENSG00000251691 NA NA NA Score=295;Name=lod=21 NA 4q13.2 NA NA Name=4 NA rs6838306 0.38 0.38 0.381 0.36262 0.4682 0.377 0.4481 0.2307 0.3569 0.49 0.37 0.42 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040626 NA NA NA NA NA 0.348 NA 5.5318 1099 19 52131310 52131310 C T exonic SIGLEC5 NA synonymous SNV SIGLEC5:NM_003830:exon5:c.G774A:p.P258P exonic ENSG00000105501,ENSG00000268500 NA synonymous SNV ENSG00000105501:ENST00000222107:exon5:c.G774A:p.P258P,ENSG00000268500:ENST00000429354:exon5:c.G774A:p.P258P,ENSG00000105501:ENST00000570106:exon5:c.G774A:p.P258P,ENSG00000268500:ENST00000599649:exon5:c.G774A:p.P258P,ENSG00000105501:ENST00000534261:exon6:c.G774A:p.P258P NA NA 19q13.41 NA NA NA NA rs61736486 0.07 0.07 0.066 0.0720847 0.0408 0.001 0.0504 0.1785 0.0491 0.04 NA 0.05 0.2 0.0502 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09567 NA NA 0.043953 0.1734 NA 0.036 NA 5.5317136 1099 18 13826007 13826007 G T exonic MC5R NA synonymous SNV MC5R:NM_005913:exon1:c.G243T:p.A81A exonic ENSG00000176136 NA synonymous SNV ENSG00000176136:ENST00000324750:exon1:c.G243T:p.A81A,ENSG00000176136:ENST00000589410:exon2:c.G243T:p.A81A NA NA 18p11.21 NA NA NA NA rs2236699 0.1 0.1 0.09 0.0998403 0.0358 0.1567 0.1095 0.1195 0.0736 0.03 0.18 0.08 0.11 0.0631 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.6128 NA NA 0.036163 0.106219 NA 0.087 NA 5.5316036 1099 14 65415366 65415366 C T intronic CHURC1-FNTB,RAB15 NA NA NA intronic ENSG00000125954,ENSG00000139998 NA NA NA NA NA 14q23.3 NA Name=HNF4A_(H-171),TBP,HNF4A,SP1,Rad21,HNF4G_(SC-6558) Name=4 NA rs1886506 0.1 0.1 0.105 0.0888578 0.1571 0.0794 0.0937 0.0303 0.1043 0.16 0.08 0.11 0.04 0.1468 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693656 NA NA 0.164535 0.052202 NA 0.029 NA 5.531565 1099 3 10059658 10059658 G T ncRNA_exonic CIDECP NA NA NA ncRNA_exonic ENSG00000186162 NA NA NA NA NA 3p25.3 NA NA Name=89 NA rs9862221 0.22 0.22 0.231 0.228634 0.1352 0.0665 0.1844 0.4932 0.1656 0.14 0.1 0.19 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676314 NA NA NA NA NA 0.362 NA 5.5314666 1099 15 86182670 86182670 G A exonic AKAP13 NA synonymous SNV AKAP13:NM_001270546:exon2:c.G147A:p.K49K,AKAP13:NM_006738:exon9:c.G4227A:p.K1409K,AKAP13:NM_007200:exon9:c.G4227A:p.K1409K exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000361243:exon9:c.G4227A:p.K1409K,ENSG00000170776:ENST00000394518:exon9:c.G4227A:p.K1409K,ENSG00000170776:ENST00000559362:exon9:c.G4227A:p.K1409K NA NA 15q25.3 NA NA NA NA rs16942564 0.06 0.06 0.058 0.0607029 0.0388 0.0377 0.1888 0.0681 0.0061 0.03 0.03 0.14 0.09 0.0557 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877672 NA NA 0.041056 0.071072 NA 0.08 NA 5.5311106 1099 11 12315891 12315891 G A exonic MICALCL NA nonsynonymous SNV MICALCL:NM_032867:exon3:c.G913A:p.A305T exonic ENSG00000133808 NA nonsynonymous SNV ENSG00000133808:ENST00000256186:exon3:c.G913A:p.A305T NA NA 11p15.3 NA NA NA NA rs1493953 0.94 0.94 0.938 0.922524 0.9463 0.9415 0.9496 0.9077 0.8793 0.95 0.95 0.94 0.9 0.9269 0.95 0.69 T 0.0 B 0.0 B 0.690 N 1.000 P -0.69 N 0.72 T -1.000 T 0.000 T 0.034 -1.737 0.011 2.13 0.302 -0.089 2.811 -1.736643 NA 0.57 0.929262 0.918321 NA 0.964 NA 5.5308714 1099 7 24703298 24703298 G A exonic MPP6 NA synonymous SNV MPP6:NM_016447:exon7:c.G741A:p.E247E exonic ENSG00000105926 NA synonymous SNV ENSG00000105926:ENST00000409761:exon5:c.G405A:p.E135E,ENSG00000105926:ENST00000222644:exon6:c.G741A:p.E247E,ENSG00000105926:ENST00000430180:exon6:c.G741A:p.E247E,ENSG00000105926:ENST00000396475:exon7:c.G741A:p.E247E Score=629;Name=lod=479 NA 7p15.3 NA NA NA NA rs1053962 0.61 0.61 0.648 0.645567 0.3499 0.7996 0.4409 0.9153 0.5716 0.35 0.83 0.41 0.91 0.4546 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792951 NA NA 0.331512 0.811847 NA 0.696 NA 5.5306546 1099 7 4900095 4900095 A G exonic PAPOLB NA synonymous SNV PAPOLB:NM_020144:exon1:c.T1347C:p.N449N exonic ENSG00000218823 NA synonymous SNV ENSG00000218823:ENST00000404991:exon1:c.T1344C:p.N448N Score=300;Name=lod=22 NA 7p22.1 NA NA NA NA rs1553960 0.4 0.4 0.44 0.453075 0.341 0.4117 0.3559 0.5537 0.544 0.34 0.36 0.34 0.58 0.4069 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173616 NA NA 0.388124 0.517601 ID=COSM150227;OCCURENCE=1(stomach) 0.5 NA 5.5306426 1099 12 93202801 93202801 C T exonic EEA1 NA synonymous SNV EEA1:NM_003566:exon18:c.G2331A:p.E777E exonic ENSG00000102189 NA synonymous SNV ENSG00000102189:ENST00000322349:exon18:c.G2331A:p.E777E Score=428;Name=lod=73 NA 12q22 NA NA NA NA rs7970286 0.5 0.5 0.466 0.46845 0.3569 0.8681 0.5245 0.1679 0.5378 0.38 0.9 0.53 0.19 0.4329 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587128 NA NA 0.346977 0.209033 NA 0.312 NA 5.5298896 1099 6 161173946 161173946 T G exonic PLG NA synonymous SNV PLG:NM_000301:exon19:c.T2286G:p.G762G exonic ENSG00000122194 NA synonymous SNV ENSG00000122194:ENST00000308192:exon19:c.T2286G:p.G762G Score=565;Name=lod=263 NA 6q26 NA NA NA NA rs11060 0.69 0.69 0.66 0.68111 0.5249 0.9782 0.7075 0.5348 0.7147 0.54 0.98 0.67 0.59 0.6119 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161543 NA NA NA NA NA 0.572 NA 5.5298666 1099 1 45246243 45246243 C A intergenic RPS8,BEST4 dist=1831;dist=3014 NA NA ncRNA_exonic ENSG00000234093 NA NA NA Score=733;Name=lod=1268 NA 1p34.1 NA Name=Pol2(b),Pol2-4H8,Pol2 NA NA rs11211032 0.23 0.23 0.202 0.20647 0.4702 0.0268 0.232 0.0295 0.3415 0.48 0.02 0.27 0.05 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.730053 1.730053 NA NA NA NA 0.145 NA 5.5298 1099 16 2645965 2645965 G A intronic PDPK1 NA NA NA intronic ENSG00000140992 NA NA NA NA NA 16p13.3 NA Name=EBF1_(C-8),Max,c-Myc,Egr-1 Name=9 NA rs1005273 0.39 0.39 0.385 0.377596 0.4702 0.0764 0.4236 0.556 0.319 0.46 0.08 0.48 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101097 NA NA NA NA NA 0.5 NA 5.5298 1099 9 132891113 132891113 G A intronic GPR107 NA NA NA UTR3 ENSG00000148358 ENST00000493417:c.*1244G>A NA NA NA NA 9q34.11 NA Name=Pol2-4H8,PU.1,Mxi1_(bHLH) Name=10 NA rs2286794 0.7 0.7 0.66 0.695687 0.6372 0.8284 0.6499 0.6657 0.6922 0.64 0.82 0.69 0.65 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.460322 1.460322 NA NA NA NA NA NA 5.5294667 1099 7 23357321 23357321 C T exonic IGF2BP3 NA synonymous SNV IGF2BP3:NM_006547:exon12:c.G1332A:p.A444A exonic ENSG00000136231 NA synonymous SNV ENSG00000136231:ENST00000258729:exon12:c.G1332A:p.A444A Score=563;Name=lod=260 NA 7p15.3 NA NA NA NA rs156414 0.28 0.28 0.283 0.244609 0.3946 0.3671 0.2435 0.0136 0.2771 0.39 0.37 0.25 0.02 0.333 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.359343 1.359343 NA 0.409884 0.082615 ID=COSM150250;OCCURENCE=1(stomach) 0.29 NA 5.5291826 1099 1 236389999 236389999 C T exonic ERO1LB NA synonymous SNV ERO1LB:NM_019891:exon11:c.G753A:p.S251S exonic ENSG00000086619 NA synonymous SNV ENSG00000086619:ENST00000354619:exon11:c.G753A:p.S251S NA NA 1q42.3 NA NA NA NA rs10924790 0.15 0.15 0.167 0.14397 0.0318 0.373 0.0778 0.1006 0.1288 0.03 0.4 0.06 0.1 0.0763 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.836133 NA NA 0.029446 0.093864 NA 0.101 NA 5.5291206 1099 20 44639692 44639692 G T intronic MMP9 NA NA NA intronic ENSG00000100985 NA NA NA Score=445;Name=lod=86 NA 20q13.12 NA NA Name=4 NA rs2274755 0.16 0.16 0.148 0.186102 0.174 0.1567 0.0807 0.1566 0.3436 0.18 0.16 0.1 0.16 0.1583 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.822526 1.822526 NA 0.138721 0.165456 NA 0.109 NA 5.528979 1099 1 21806571 21806571 A G exonic NBPF3 NA synonymous SNV NBPF3:NM_001256417:exon10:c.A1026G:p.K342K,NBPF3:NM_001256416:exon11:c.A1200G:p.K400K,NBPF3:NM_032264:exon11:c.A1236G:p.K412K exonic ENSG00000142794 NA synonymous SNV ENSG00000142794:ENST00000454000:exon10:c.A1026G:p.K342K,ENSG00000142794:ENST00000318249:exon11:c.A1236G:p.K412K,ENSG00000142794:ENST00000342104:exon11:c.A1200G:p.K400K,ENSG00000142794:ENST00000318220:exon14:c.A1068G:p.K356K,ENSG00000142794:ENST00000434838:exon15:c.A1068G:p.K356K NA NA 1p36.12 NA NA NA NA rs41265989 0.02 0.02 0.009 0.0167732 0.0417 0.001 0.0216 0.0015 0.0245 0.04 NA 0.02 NA 0.0372 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020748 NA NA 0.059023 0.006233 NA NA NA 5.5287436 1099 3 10067797 10067797 T C ncRNA_exonic CIDECP NA NA NA ncRNA_exonic ENSG00000186162 NA NA NA Score=646;Name=lod=564 NA 3p25.3 NA NA NA NA rs33917318 0.21 0.21 0.198 0.211262 0.1382 0.0486 0.1686 0.4697 0.135 0.15 0.07 0.19 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925021 NA NA NA NA NA 0.348 NA 5.5284666 1099 10 11911425 11911425 G C ncRNA_exonic PROSER2-AS1 NA NA NA ncRNA_exonic ENSG00000225778 NA NA NA NA NA 10p14 NA NA Name=6 NA rs72775915 0.07 0.07 0.066 0.0650958 0.1382 NA 0.0793 0.0272 0.0982 0.14 NA 0.07 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440655 NA NA NA NA NA 0.167 NA 5.5284666 1099 19 38794895 38794895 T C UTR5;UTR3 C19orf33;YIF1B NM_033520:c.-7T>C;NM_001145463:c.*1234A>G,NM_001039673:c.*1097A>G,NM_001039672:c.*1097A>G,NM_001039671:c.*1097A>G,NM_033557:c.*1097A>G,NM_001145462:c.*1097A>G,NM_001145461:c.*1097A>G NA NA UTR5 ENSG00000167644 ENST00000301246:c.-7T>C,ENST00000588605:c.-7T>C NA NA NA NA 19q13.2 NA Name=TBP,HA-E2F1,c-Fos,Pol2-4H8,Egr-1,ELK4,GR,Pol2,TAF1 Name=47 NA rs2304176 0.33 0.33 0.276 0.341454 0.2803 0.5139 0.3934 0.174 0.4162 0.28 0.49 0.36 0.2 0.2926 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426254 NA NA 0.231977 0.200862 NA 0.246 NA 5.5284564 1099 19 19626781 19626781 T G upstream NDUFA13,TSSK6 NA NA NA UTR5 ENSG00000178093,ENSG00000186010 ENST00000360913:c.-545A>C;ENST00000502506:c.-267T>G,ENST00000507754:c.-267T>G NA NA NA NA 19p13.11 NA Name=Pol2(b),KAP1,Pol2-4H8,HA-E2F1,Pol2,E2F6,ELF1_(SC-631),CTCF Name=18 NA rs77254326 0.12 0.12 0.133 0.119209 0.17 NA 0.1182 0.1634 0.1309 0.15 NA 0.14 0.21 0.1453 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732149 NA NA 0.156886 0.154767 NA 0.123 NA 5.527814 1099 6 122001307 122001307 G A intergenic GJA1,HSF2 dist=230434;dist=719389 NA NA ncRNA_exonic ENSG00000219135 NA NA NA Score=722;Name=lod=1141 NA 6q22.31 NA NA Name=4 NA rs9320838 0.41 0.41 0.341 0.384185 0.4722 0.4663 0.3458 0.3321 0.3067 0.44 0.49 0.35 0.32 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46372 NA NA NA NA NA 0.377 NA 5.5278 1099 16 18839362 18839362 T C exonic SMG1 NA synonymous SNV SMG1:NM_015092:exon55:c.A9732G:p.A3244A exonic ENSG00000157106 NA synonymous SNV ENSG00000157106:ENST00000565324:exon53:c.A9402G:p.A3134A,ENSG00000157106:ENST00000389467:exon55:c.A9735G:p.A3245A,ENSG00000157106:ENST00000446231:exon55:c.A9732G:p.A3244A Score=451;Name=lod=91 NA 16p12.3 NA NA NA NA rs12445870 0.24 0.24 0.225 0.242812 0.3926 0.1081 0.2997 0.1346 0.3333 0.39 0.09 0.29 0.13 0.3554 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.465499 1.465499 NA 0.391331 0.176056 NA 0.283 NA 5.5273356 1099 7 148979401 148979401 C A exonic ZNF783 NA synonymous SNV ZNF783:NM_001195220:exon6:c.C1608A:p.P536P exonic ENSG00000204946 NA synonymous SNV ENSG00000204946:ENST00000434415:exon6:c.C1608A:p.P536P NA NA 7q36.1 NA NA NA NA rs3735314 0.02 0.02 0.013 0.01877 0.0308 NA 0.0576 0.0008 0.0225 0.04 0.0017 0.06 0.002 0.0829 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034578 NA NA 0.025729 0.005656 NA 0.022 NA 5.5272376 1099 16 22826339 22826339 A G exonic HS3ST2 NA synonymous SNV HS3ST2:NM_006043:exon1:c.A408G:p.V136V exonic ENSG00000122254 NA synonymous SNV ENSG00000122254:ENST00000261374:exon1:c.A408G:p.V136V,ENSG00000122254:ENST00000473392:exon1:c.A408G:p.V136V Score=601;Name=lod=371 NA 16p12.2 NA NA NA NA rs208951 0.41 0.41 0.376 0.409944 0.3688 0.3571 0.4741 0.5393 0.2863 0.36 0.37 0.44 0.53 0.4036 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.632251 1.632251 NA 0.36722 0.509646 NA 0.355 NA 5.5270466 1099 7 137128830 137128830 T C exonic DGKI NA synonymous SNV DGKI:NM_004717:exon29:c.A2778G:p.E926E exonic ENSG00000157680 NA synonymous SNV ENSG00000157680:ENST00000446122:exon28:c.A2724G:p.E908E,ENSG00000157680:ENST00000453654:exon28:c.A1785G:p.E595E,ENSG00000157680:ENST00000288490:exon29:c.A2778G:p.E926E,ENSG00000157680:ENST00000424189:exon29:c.A2817G:p.E939E Score=505;Name=lod=151 NA 7q33 NA NA NA NA rs1918837 0.43 0.43 0.405 0.444888 0.3598 0.6627 0.5274 0.2057 0.5726 0.35 0.65 0.51 0.23 0.4261 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018315 NA NA 0.353953 0.230909 NA 0.428 NA 5.5268136 1099 2 44993542 44993542 A G intronic CAMKMT NA NA NA intronic ENSG00000143919 NA NA NA Score=636;Name=lod=512 NA 2p21 NA NA Name=9 NA rs343937 0.13 0.13 0.133 0.154752 0.17 0.004 0.134 0.1989 0.2495 0.17 0.0017 0.14 0.21 0.1508 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.248701 3.248701 NA 0.152442 0.218112 NA 0.159 NA 5.526758 1099 1 201755469 201755469 C G ncRNA_intronic RNU6-79P NA NA NA ncRNA_intronic ENSG00000231871 NA NA NA NA NA 1q32.1 NA Name=STAT3 NA NA rs12563363 0.2 0.2 0.206 0.223243 0.1402 0.2004 0.1124 0.3684 0.2147 0.13 0.21 0.11 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.52479 3.52479 NA NA NA NA 0.188 NA 5.5264666 1099 8 56363564 56363564 C T ncRNA_exonic SBF1P1 NA NA NA ncRNA_exonic ENSG00000248522 NA NA NA Score=490;Name=lod=131 NA 8q12.1 NA NA NA NA rs2939632 0.23 0.23 0.171 0.232428 0.1402 0.4306 0.3285 0.0923 0.2444 0.14 0.42 0.26 0.12 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950479 NA NA NA NA NA 0.094 NA 5.5264666 1099 13 113527967 113527967 G A exonic ATP11A NA synonymous SNV ATP11A:NM_015205:exon27:c.G3138A:p.S1046S,ATP11A:NM_032189:exon27:c.G3138A:p.S1046S exonic ENSG00000068650 NA synonymous SNV ENSG00000068650:ENST00000419631:exon2:c.G114A:p.S38S,ENSG00000068650:ENST00000283558:exon27:c.G3138A:p.S1046S,ENSG00000068650:ENST00000375630:exon27:c.G3138A:p.S1046S,ENSG00000068650:ENST00000375645:exon27:c.G3138A:p.S1046S,ENSG00000068650:ENST00000487903:exon27:c.G3138A:p.S1046S Score=549;Name=lod=227 NA 13q34 NA NA NA NA rs1320525 0.39 0.39 0.385 0.3748 0.3658 0.4742 0.3761 0.298 0.3845 0.39 0.43 0.43 0.3 0.3836 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590337 NA NA 0.391163 0.30867 NA 0.304 NA 5.5261036 1099 6 10460560 10460560 T C intergenic MIR5689,GCNT2 dist=20533;dist=61008 NA NA ncRNA_exonic ENSG00000238076 NA NA NA NA NA 6p24.3 NA Name=BATF,TCF12,EBF1_(C-8),PAX5-N19,Oct-2,NFKB,BCL11A,Pbx3,IRF4_(M-17),MEF2A,NRSF,PU.1,MEF2C_(SC-13268),POU2F2,EBF Name=9 NA rs470790 0.54 0.54 0.555 0.598243 0.4742 0.494 0.5231 0.7579 0.6708 0.48 0.5 0.47 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122864 NA NA NA NA NA 0.58 NA 5.5258 1100 5 1053396 1053396 C G intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA Name=CTCF_(SC-5916),SMC3_(ab9263),CTCF Name=7 NA rs2241603 0.36 0.36 0.316 0.334665 0.4751 0.374 0.4135 0.0635 0.4601 0.5 0.36 0.44 0.07 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26763 NA NA NA NA NA 0.254 NA 5.5249 1100 12 56494991 56494991 G A exonic ERBB3 NA synonymous SNV ERBB3:NM_001982:exon27:c.G3348A:p.R1116R exonic ENSG00000065361 NA synonymous SNV ENSG00000065361:ENST00000549832:exon5:c.G708A:p.R236R,ENSG00000065361:ENST00000553131:exon10:c.G1071A:p.R357R,ENSG00000065361:ENST00000550070:exon12:c.G1269A:p.R423R,ENSG00000065361:ENST00000450146:exon14:c.G1419A:p.R473R,ENSG00000065361:ENST00000267101:exon27:c.G3348A:p.R1116R,ENSG00000065361:ENST00000415288:exon28:c.G3171A:p.R1057R Score=346;Name=lod=34 NA 12q13.2 NA NA NA NA rs2271189 0.32 0.32 0.287 0.252196 0.4036 0.2887 0.3718 0.0734 0.2157 0.41 0.35 0.37 0.1 0.3417 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185029 NA NA 0.39686 0.140717 NA 0.312 NA 5.5245066 1100 6 160679400 160679400 C A exonic SLC22A2 NA synonymous SNV SLC22A2:NM_003058:exon1:c.G390T:p.T130T exonic ENSG00000112499 NA synonymous SNV ENSG00000112499:ENST00000366953:exon1:c.G390T:p.T130T,ENSG00000112499:ENST00000366952:exon3:c.G327T:p.T109T Score=527;Name=lod=185 NA 6q25.3 NA NA NA NA rs624249 0.29 0.29 0.296 0.264377 0.3926 0.1498 0.268 0.2663 0.2454 0.42 0.17 0.31 0.24 0.3433 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.336319 1.336319 NA 0.406512 0.245913 NA 0.275 NA 5.5242546 1100 1 240370629 240370629 C G exonic FMN2 NA synonymous SNV FMN2:NM_020066:exon5:c.C2517G:p.T839T exonic ENSG00000155816 NA synonymous SNV ENSG00000155816:ENST00000319653:exon5:c.C2517G:p.T839T Score=304;Name=lod=23 NA 1q43 NA NA NA NA rs10926166 0.26 0.26 0.24 0.28734 0.4066 0.1032 0.2507 0.2617 0.4151 0.4 0.09 0.22 0.25 0.3481 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381678 NA NA 0.388837 0.287789 NA 0.29 NA 5.5231296 1100 1 199878423 199878423 T C intergenic LOC100131234,NR5A2 dist=971865;dist=118307 NA NA ncRNA_exonic ENSG00000229747 NA NA NA NA NA 1q32.1 NA Name=p300_(N-15),p300,CEBPB,RFX5_(N-494),c-Jun,c-Fos,ERalpha_a,GATA-2,GATA3_(SC-268),FOXA1_(C-20) Name=43 NA rs11584013 0.55 0.55 0.531 0.559704 0.4771 0.6458 0.5865 0.497 0.6217 0.49 0.66 0.54 0.51 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061435 NA NA NA NA NA 0.616 NA 5.5229 1100 6 33668370 33668370 A G intronic MNF1 NA NA NA intronic ENSG00000137288 NA NA NA NA NA 6p21.31 NA Name=CTCF_(SC-5916),RFX5_(N-494),SMC3_(ab9263),ZNF263,CTCFL_(SC-98982),Znf143_(16618-1-AP),CTCF,Rad21,CTCF_(C-20) Name=143 NA rs942643 0.51 0.51 0.464 0.533546 0.4771 0.8591 0.5908 0.118 0.7771 0.48 0.84 0.59 0.13 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200918 NA NA NA NA NA 0.478 NA 5.5229 1100 7 91715662 91715662 C T exonic AKAP9 NA synonymous SNV AKAP9:NM_005751:exon37:c.C9145T:p.L3049L,AKAP9:NM_147185:exon37:c.C9121T:p.L3041L exonic ENSG00000127914 NA synonymous SNV ENSG00000127914:ENST00000394534:exon11:c.C2683T:p.L895L,ENSG00000127914:ENST00000358100:exon36:c.C8995T:p.L2999L,ENSG00000127914:ENST00000356239:exon37:c.C9145T:p.L3049L,ENSG00000127914:ENST00000359028:exon37:c.C9157T:p.L3053L Score=431;Name=lod=75 NA 7q21.2 NA NA NA NA rs28927678 0.3 0.3 0.286 0.295727 0.3837 0.1617 0.3458 0.2201 0.41 0.39 0.17 0.36 0.24 0.3589 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016472 NA NA 0.401279 0.266682 NA 0.355 NA 5.5227876 1100 22 42908186 42908186 G C ncRNA_exonic SERHL NA NA NA ncRNA_exonic ENSG00000172250 NA NA NA Score=300;Name=lod=22 NA 22q13.2 NA NA NA NA rs144737997 0.09 0.09 0.036 0.0754792 0.1441 0.003 0.1787 0.056 0.0327 0.14 0.0017 0.2 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.691136 1.691136 NA NA NA NA 0.058 NA 5.5225666 1100 15 31093425 31093425 A C intergenic LOC100288637,HERC2P10 dist=28216;dist=16814 NA NA ncRNA_exonic ENSG00000103832 NA NA NA Score=543;Name=lod=214 NA 15q13.2 NA Name=CTCF NA NA rs798093 0.37 0.37 0.261 0.518371 0.4791 0.1667 0.4669 0.9425 0.3845 0.36 0.12 0.37 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287846 NA 0.38 NA NA NA NA NA 5.5209 1100 11 99690450 99690450 T C exonic CNTN5 NA synonymous SNV CNTN5:NM_001243270:exon3:c.T231C:p.Y77Y,CNTN5:NM_001243271:exon4:c.T231C:p.Y77Y,CNTN5:NM_014361:exon4:c.T231C:p.Y77Y exonic ENSG00000149972 NA synonymous SNV ENSG00000149972:ENST00000279463:exon2:c.T231C:p.Y77Y,ENSG00000149972:ENST00000528682:exon3:c.T231C:p.Y77Y,ENSG00000149972:ENST00000524871:exon4:c.T231C:p.Y77Y,ENSG00000149972:ENST00000527185:exon4:c.T231C:p.Y77Y NA NA 11q22.1 NA NA NA NA rs12222337 0.11 0.11 0.052 NA NA NA NA NA NA 0.12 0.05 0.14 0.16 0.146 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053116 NA NA NA NA NA 0.029 NA 5.5206666 1100 12 8512315 8512315 G A ncRNA_intronic LOC389634 NA NA NA ncRNA_exonic ENSG00000242661 NA NA NA Score=787;Name=lod=2104 NA 12p13.31 NA NA NA NA rs12307145 0.33 0.33 0.262 0.375998 0.1461 0.5903 0.2709 0.4546 0.3599 0.15 0.56 0.25 0.4 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347977 NA NA NA NA NA 0.275 NA 5.5205666 1100 2 1418192 1418192 C G exonic TPO NA synonymous SNV TPO:NM_175721:exon1:c.C12G:p.L4L,TPO:NM_175722:exon1:c.C12G:p.L4L,TPO:NM_000547:exon2:c.C12G:p.L4L,TPO:NM_001206744:exon2:c.C12G:p.L4L,TPO:NM_001206745:exon2:c.C12G:p.L4L,TPO:NM_175719:exon2:c.C12G:p.L4L exonic ENSG00000115705 NA synonymous SNV ENSG00000115705:ENST00000382198:exon1:c.C12G:p.L4L,ENSG00000115705:ENST00000423320:exon1:c.C12G:p.L4L,ENSG00000115705:ENST00000329066:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000337415:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000345913:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000346956:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000349624:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000382201:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000382269:exon2:c.C12G:p.L4L,ENSG00000115705:ENST00000539820:exon2:c.C12G:p.L4L NA NA 2p25.3 NA Name=Rad21 NA NA rs9678281 0.33 0.33 0.311 0.311701 0.3887 0.2361 0.3703 0.2769 0.316 0.39 0.21 0.4 0.3 0.3691 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554563 NA NA 0.388488 0.290513 ID=COSM1399678;OCCURENCE=1(large_intestine) 0.377 NA 5.5203786 1100 19 10600442 10600442 G C exonic KEAP1 NA synonymous SNV KEAP1:NM_012289:exon4:c.C1413G:p.L471L,KEAP1:NM_203500:exon4:c.C1413G:p.L471L exonic ENSG00000079999 NA synonymous SNV ENSG00000079999:ENST00000171111:exon4:c.C1413G:p.L471L,ENSG00000079999:ENST00000393623:exon4:c.C1413G:p.L471L Score=489;Name=lod=129 NA 19p13.2 NA NA NA NA rs1048290 0.49 0.49 0.495 0.508187 0.3549 0.5337 0.2983 0.7534 0.4571 0.35 0.54 0.35 0.75 0.4203 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772331 NA NA 0.372093 0.684748 ID=COSM148507;OCCURENCE=1(stomach) 0.457 NA 5.5193736 1100 12 123003317 123003317 T C intronic RSRC2 NA NA NA intronic ENSG00000111011 NA NA NA NA NA 12q24.31 NA Name=STAT3 Name=19 NA rs11058562 0.35 0.35 0.343 0.336262 0.4811 0.4315 0.402 0.0492 0.4305 0.5 0.4 0.35 0.07 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707972 NA NA NA NA NA 0.391 NA 5.5189 1100 12 57637593 57637593 G A UTR3 STAC3 NM_145064:c.*2C>T NA NA UTR3 ENSG00000185482 ENST00000332782:c.*2C>T,ENST00000554578:c.*2C>T,ENST00000557176:c.*157C>T,ENST00000546246:c.*2C>T NA NA NA NA 12q13.3 NA Name=CTCF,Rad21,ELF1_(SC-631),SMC3_(ab9263),Znf143_(16618-1-AP),E2F6_(H-50),ZBTB7A_(SC-34508),CTCF_(C-20),Ini1,Egr-1,CTCF_(SC-5916) Name=133 NA rs3204635 0.21 0.21 0.184 0.250998 0.2545 0.2232 0.2075 0.1475 0.4468 0.25 0.22 0.21 0.13 0.2891 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71162 NA NA 0.27093 0.187472 NA 0.225 NA 5.5188034 1100 4 8621167 8621167 G A exonic CPZ NA synonymous SNV CPZ:NM_003652:exon10:c.G1749A:p.G583G,CPZ:NM_001014447:exon11:c.G1782A:p.G594G,CPZ:NM_001014448:exon11:c.G1371A:p.G457G exonic ENSG00000109625 NA synonymous SNV ENSG00000109625:ENST00000429646:exon9:c.G606A:p.G202G,ENSG00000109625:ENST00000315782:exon10:c.G1749A:p.G583G,ENSG00000109625:ENST00000360986:exon11:c.G1782A:p.G594G,ENSG00000109625:ENST00000382480:exon11:c.G1371A:p.G457G NA NA 4p16.1 NA NA NA NA rs9342 0.06 0.06 0.06 0.0599042 0.0507 0.0288 0.0331 0.1354 0.0184 0.05 0.02 0.03 0.14 0.0493 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091414 NA NA 0.048023 0.113028 NA 0.022 NA 5.5186436 1100 10 123842825 123842825 C G exonic TACC2 NA synonymous SNV TACC2:NM_206862:exon4:c.C810G:p.P270P exonic ENSG00000138162 NA synonymous SNV ENSG00000138162:ENST00000334433:exon3:c.C810G:p.P270P,ENSG00000138162:ENST00000453444:exon3:c.C810G:p.P270P,ENSG00000138162:ENST00000369005:exon4:c.C810G:p.P270P,ENSG00000138162:ENST00000515273:exon4:c.C810G:p.P270P,ENSG00000138162:ENST00000515603:exon4:c.C810G:p.P270P NA NA 10q26.13 NA NA NA NA rs11816938 0.07 0.07 0.059 0.0808706 0.0447 0.0546 0.1427 0.1044 0.0695 0.05 0.06 0.09 0.11 0.0654 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223618 NA NA 0.038023 0.082615 NA 0.094 NA 5.5185436 1100 1 11205058 11205058 C T exonic MTOR NA synonymous SNV MTOR:NM_004958:exon33:c.G4731A:p.A1577A exonic ENSG00000198793 NA synonymous SNV ENSG00000198793:ENST00000361445:exon33:c.G4731A:p.A1577A Score=463;Name=lod=102 NA 1p36.22 NA Name=GATA-2 NA NA rs1057079 0.61 0.61 0.577 0.547524 0.7356 0.8165 0.7017 0.0635 0.6217 0.74 0.82 0.7 0.08 0.6779 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5731 1.5731 NA 0.735 0.176804 NA 0.558 NA 5.5181666 1100 12 53010024 53010024 C T exonic KRT73 NA synonymous SNV KRT73:NM_175068:exon2:c.G588A:p.T196T exonic ENSG00000186049 NA synonymous SNV ENSG00000186049:ENST00000305748:exon2:c.G588A:p.T196T NA NA 12q13.13 NA NA NA NA rs61736101 0.08 0.08 0.074 0.0844649 0.0477 0.0288 0.0605 0.208 0.0297 0.04 0.03 0.07 0.19 0.0524 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789504 NA NA 0.048605 0.171584 NA 0.109 NA 5.5179616 1100 19 57133633 57133633 C T exonic ZNF71 NA synonymous SNV ZNF71:NM_021216:exon3:c.C978T:p.Y326Y exonic ENSG00000197951 NA synonymous SNV ENSG00000197951:ENST00000328070:exon3:c.C978T:p.Y326Y NA NA 19q13.43 NA NA NA NA rs35011777 0.03 0.03 0.013 0.0163738 0.0507 NA 0.036 0.003 0.002 0.05 NA 0.05 0.0041 0.0403 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321841 NA NA 0.05907 0.011121 NA 0.072 NA 5.5165966 1100 6 32520795 32520795 T C ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA Name=2 NA rs66969121 0.11 0.11 0.062 0.10004 0.1501 0.0446 0.1254 0.1044 0.0818 0.15 0.05 0.13 0.1 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131527 NA NA NA NA NA 0.138 NA 5.5165666 1100 7 128140982 128140982 T C exonic METTL2B NA synonymous SNV METTL2B:NM_018396:exon8:c.T942C:p.Y314Y exonic ENSG00000165055 NA synonymous SNV ENSG00000165055:ENST00000481392:exon3:c.T234C:p.Y78Y,ENSG00000165055:ENST00000480046:exon7:c.T747C:p.Y249Y,ENSG00000165055:ENST00000262432:exon8:c.T942C:p.Y314Y Score=592;Name=lod=338 NA 7q32.1 NA NA NA NA rs1132651 0.29 0.29 0.295 0.358227 0.3827 0.2877 0.3055 0.4145 0.3671 0.32 0.23 0.3 0.29 0.3711 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438405 NA NA 0.397069 0.402179 NA 0.406 NA 5.5157976 1100 7 43846603 43846603 A G exonic BLVRA NA synonymous SNV BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G exonic ENSG00000106605 NA synonymous SNV ENSG00000106605:ENST00000265523:exon8:c.A660G:p.G220G,ENSG00000106605:ENST00000402924:exon9:c.A660G:p.G220G Score=437;Name=lod=80 NA 7p13 NA NA NA NA rs7738 0.42 0.42 0.428 0.47504 0.3529 0.4048 0.3718 0.6059 0.5695 0.37 0.37 0.38 0.59 0.4199 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161721 NA NA 0.378256 0.528824 NA 0.493 NA 5.5156106 1100 3 194476468 194476468 G A ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA Score=387;Name=lod=50 NA 3q29 NA NA NA NA rs3890436 0.29 0.29 0.298 0.333866 0.1511 0.3393 0.183 0.587 0.2812 0.15 0.33 0.17 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316274 NA NA NA NA NA 0.225 NA 5.5155666 1100 3 194476482 194476482 C T ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA Score=387;Name=lod=50 NA 3q29 NA NA NA NA rs11920491 0.29 0.29 0.306 0.333866 0.1511 0.3393 0.183 0.587 0.2812 0.15 0.33 0.17 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442672 NA NA NA NA NA 0.225 NA 5.5155666 1100 3 194476996 194476996 A G ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA Score=251;Name=lod=14 NA 3q29 NA NA NA NA rs7617609 0.3 0.3 0.32 0.339257 0.1511 0.3403 0.1844 0.6059 0.2812 0.15 0.33 0.17 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196756 NA NA NA NA NA 0.232 NA 5.5155666 1100 3 194477769 194477769 T C ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA NA NA 3q29 NA NA Name=14 NA rs11919157 0.31 0.31 0.322 0.355831 0.1511 0.3403 0.1873 0.6672 0.2812 0.15 0.33 0.17 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319981 NA NA NA NA NA 0.268 NA 5.5155666 1100 1 26527810 26527810 G A intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA Name=Egr-1,CTCF_(SC-5916),Pol2,PU.1,HDAC2_(SC-6296),E2F6,c-Jun,CTCFL_(SC-98982),eGFP-JunB,Pol2(b),E2F6_(H-50),HMGN3,TAL1_(SC-12984),GABP,CTCF,CHD2_(N-1250),Rad21,ELF1_(SC-631),HEY1,Max,CCNT2,NF-YB Name=91 NA rs1889756 0.19 0.19 0.009 0.21845 0.2614 0.0218 0.1671 0.407 0.1585 0.24 0.02 0.17 0.32 0.2204 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899419 NA NA 0.00314 0.005901 NA NA NA 5.51506 1101 17 42476409 42476409 G A exonic GPATCH8 NA synonymous SNV GPATCH8:NM_001002909:exon8:c.C3036T:p.H1012H exonic ENSG00000186566 NA synonymous SNV ENSG00000186566:ENST00000591680:exon8:c.C3036T:p.H1012H,ENSG00000186566:ENST00000434000:exon9:c.C2802T:p.H934H NA NA 17q21.31 NA NA NA NA rs3744427 0.04 0.04 0.036 0.028754 0.0537 0.0258 0.0389 0.0045 0.0317 0.06 0.04 0.04 0.002 0.0413 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.2683 NA NA 0.057093 0.009305 NA 0.007 NA 5.5145736 1101 3 152553628 152553628 C T exonic P2RY1 NA synonymous SNV P2RY1:NM_002563:exon1:c.C57T:p.A19A exonic ENSG00000169860 NA synonymous SNV ENSG00000169860:ENST00000305097:exon1:c.C57T:p.A19A NA NA 3q25.2 NA NA NA NA rs1065776 0.09 0.09 0.081 0.110423 0.0497 0.0347 0.0706 0.2239 0.1258 0.05 0.04 0.06 0.21 0.065 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527964 NA NA 0.037674 0.170449 NA 0.058 NA 5.5142926 1101 10 44285190 44285190 G C ncRNA_exonic HNRNPA3P1 NA NA NA ncRNA_exonic ENSG00000226790 NA NA NA Score=770;Name=lod=1790 NA 10q11.21 NA NA NA NA rs1998749 0.08 0.08 0.097 0.0830671 0.0775 NA 0.0836 0.2005 0.0153 0.06 NA 0.1 0.18 0.0749 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304897 NA NA NA NA NA 0.094 NA 5.5142666 1101 6 32609726 32609726 C T intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2,Pol2-4H8 Name=3 NA rs9272743 0.25 0.25 0.102 0.232428 0.2535 0.1815 0.2954 0.2678 0.1708 0.23 0.2 0.32 0.27 0.2324 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81228 NA NA NA NA NA 0.123 NA 5.5141 1101 2 3504687 3504687 A G exonic ADI1 NA synonymous SNV ADI1:NM_018269:exon3:c.T318C:p.D106D exonic ENSG00000182551 NA synonymous SNV ENSG00000182551:ENST00000327435:exon3:c.T318C:p.D106D,ENSG00000182551:ENST00000382093:exon3:c.T300C:p.D100D Score=415;Name=lod=65 NA 2p25.3 NA NA NA NA rs9950 0.53 0.53 0.535 0.533546 0.3887 0.4484 0.451 0.8918 0.3446 0.39 0.46 0.42 0.9 0.4086 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182764 NA NA 0.355465 0.802315 ID=COSM148794;OCCURENCE=1(stomach) 0.594 NA 5.5139016 1101 1 26527809 26527809 A C intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA Name=CCNT2,Max,HEY1,ELF1_(SC-631),Rad21,NF-YB,CTCF,CHD2_(N-1250),E2F6_(H-50),eGFP-JunB,Pol2(b),CTCFL_(SC-98982),TAL1_(SC-12984),HMGN3,PU.1,CTCF_(SC-5916),Pol2,Egr-1,c-Jun,E2F6,HDAC2_(SC-6296) Name=91 NA rs1889755 0.19 0.19 0.013 0.21845 0.2614 0.0218 0.1671 0.407 0.1585 0.24 0.02 0.17 0.32 0.2205 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614063 NA NA 0.004302 0.011121 NA NA NA 5.513798 1101 4 89618837 89618837 T C exonic NAP1L5 NA synonymous SNV NAP1L5:NM_153757:exon1:c.A69G:p.A23A exonic ENSG00000177432 NA synonymous SNV ENSG00000177432:ENST00000323061:exon1:c.A69G:p.A23A NA NA 4q22.1 NA Name=HEY1,GATA-1,Pol2,YY1,YY1_(C-20),CtBP2 NA NA rs710834 0.5 0.5 0.468 0.55651 0.3678 0.5516 0.3588 0.7292 0.6626 0.38 0.58 0.36 0.71 0.4391 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.56347 2.56347 NA 0.346008 0.62202 NA 0.493 NA 5.5137586 1101 14 106805408 106805408 C T intergenic LINC00226,LINC00221 dist=60442;dist=133047 NA NA exonic ENSG00000231475 NA nonsynonymous SNV ENSG00000231475:ENST00000438142:exon2:c.G155A:p.G52D NA NA 14q32.33 NA Name=KAP1 NA NA rs61995642 0.22 0.22 0.244 NA NA NA NA NA NA 0.22 0.17 0.2 0.3 0.3198 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726411 NA 0.45 NA NA NA 0.116 NA 5.5135334 1101 X 207362 207362 C T exonic PLCXD1 NA synonymous SNV PLCXD1:NM_018390:exon4:c.C312T:p.D104D exonic ENSG00000182378 NA synonymous SNV ENSG00000182378:ENST00000448477:exon3:c.C312T:p.D104D,ENSG00000182378:ENST00000381657:exon4:c.C312T:p.D104D,ENSG00000182378:ENST00000381663:exon4:c.C312T:p.D104D,ENSG00000182378:ENST00000415337:exon4:c.C312T:p.D104D,ENSG00000182378:ENST00000430923:exon4:c.C312T:p.D104D,ENSG00000182378:ENST00000447472:exon4:c.C312T:p.D104D,ENSG00000182378:ENST00000399012:exon5:c.C312T:p.D104D Score=518;Name=lod=170 NA Xp22.33 NA NA NA NA rs11556996 0.57 0.57 0.58188 NA NA NA NA NA NA 0.59 0.75 0.53 0.35 0.5661 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191585 NA NA 0.587407 0.364957 NA 0.623 NA 5.5131596 1101 4 154553973 154553973 G A exonic KIAA0922 NA synonymous SNV KIAA0922:NM_001131007:exon32:c.G4311A:p.S1437S,KIAA0922:NM_015196:exon32:c.G4308A:p.S1436S exonic ENSG00000121210 NA synonymous SNV ENSG00000121210:ENST00000240487:exon26:c.G3642A:p.S1214S,ENSG00000121210:ENST00000440693:exon30:c.G4059A:p.S1353S,ENSG00000121210:ENST00000409663:exon32:c.G4308A:p.S1436S,ENSG00000121210:ENST00000409959:exon32:c.G4311A:p.S1437S NA NA 4q31.3 NA NA NA NA rs35897141 0.02 0.02 0.02 0.0161741 0.0408 NA 0.0259 0.0053 0.0153 0.05 NA 0.03 0.01 0.0431 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263839 NA NA 0.069651 0.012483 NA 0.007 NA 5.5131156 1101 17 72357805 72357805 C T intronic BTBD17 NA NA NA intronic ENSG00000204347 NA NA NA NA NA 17q25.1 NA Name=ERalpha_a,CTCF_(SC-5916),TBP,CTCF_(C-20),NRSF,SMC3_(ab9263),GABP,CTCF,Rad21 Name=55 NA rs12939498 0.36 0.36 0.329 0.336861 0.4871 0.3909 0.4597 0.0348 0.4479 0.49 0.41 0.43 0.04 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126322 NA 0 NA NA NA 0.333 NA 5.5129 1101 11 125848261 125848261 C T exonic CDON NA synonymous SNV CDON:NM_001243597:exon18:c.G3294A:p.T1098T,CDON:NM_016952:exon18:c.G3294A:p.T1098T exonic ENSG00000064309 NA synonymous SNV ENSG00000064309:ENST00000531738:exon9:c.G1425A:p.T475T,ENSG00000064309:ENST00000263577:exon18:c.G3294A:p.T1098T,ENSG00000064309:ENST00000392693:exon18:c.G3294A:p.T1098T Score=395;Name=lod=54 NA 11q24.2 NA NA NA NA rs3740904 0.43 0.43 0.392 0.399561 0.3797 0.4127 0.4337 0.382 0.4059 0.37 0.45 0.49 0.44 0.4143 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.835235 NA NA 0.360549 0.348478 ID=COSM147373;OCCURENCE=1(stomach) 0.449 NA 5.5121176 1101 1 16352937 16352937 G A intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA Name=Rad21 Name=3 NA rs1010069 0.58 0.58 0.618 0.598243 0.4881 0.7619 0.4035 0.6717 0.5818 0.48 0.74 0.43 0.67 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063367 NA NA NA NA NA 0.587 NA 5.5119 1101 10 134234279 134234279 C T intergenic PWWP2B,C10orf91 dist=2921;dist=24435 NA NA ncRNA_exonic ENSG00000231705 NA NA NA NA NA 10q26.3 NA Name=Ini1,PU.1 Name=8 NA rs7909340 0.46 0.46 0.459 0.427316 0.4881 0.6587 0.3242 0.2368 0.4571 0.47 0.67 0.35 0.25 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489257 NA NA NA NA NA 0.5 NA 5.5119 1101 17 76135412 76135412 G T intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA Name=Pol2 Name=18 NA rs17773854 0.38 0.38 0.359 0.366414 0.4881 0.2312 0.3718 0.3729 0.3681 0.49 0.24 0.44 0.35 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184553 NA NA NA NA NA 0.37 NA 5.5119 1101 5 140594442 140594442 A G exonic PCDHB13 NA synonymous SNV PCDHB13:NM_018933:exon1:c.A747G:p.R249R exonic ENSG00000187372 NA synonymous SNV ENSG00000187372:ENST00000341948:exon1:c.A747G:p.R249R NA NA 5q31.3 NA NA NA NA rs3822332 NA NA 0.065 NA NA NA NA NA NA NA NA NA NA 0.1551 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5488 1.5488 NA NA NA NA NA NA 5.5115666 1101 7 23296533 23296533 G A exonic GPNMB NA synonymous SNV GPNMB:NM_001005340:exon4:c.G390A:p.P130P,GPNMB:NM_002510:exon4:c.G390A:p.P130P exonic ENSG00000136235 NA synonymous SNV ENSG00000136235:ENST00000539136:exon2:c.G93A:p.P31P,ENSG00000136235:ENST00000258733:exon4:c.G390A:p.P130P,ENSG00000136235:ENST00000381990:exon4:c.G390A:p.P130P,ENSG00000136235:ENST00000409458:exon4:c.G390A:p.P130P NA NA 7p15.3 NA Name=GATA2_(CG2-96),TAL1_(SC-12984) NA NA rs199355 0.36 0.36 0.357 0.366214 0.3767 0.129 0.3617 0.5371 0.3722 0.36 0.13 0.38 0.58 0.3703 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413079 NA NA 0.408256 0.485701 NA 0.319 NA 5.5114106 1101 1 201754528 201754528 T C ncRNA_intronic RNU6-79P NA NA NA ncRNA_intronic ENSG00000231871 NA NA NA NA NA 1q32.1 NA Name=STAT3 NA NA rs16849345 0.05 0.05 0.051 0.0553115 0.0547 0.001 0.0562 0.1271 0.0143 0.05 NA 0.05 0.08 0.0458 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50686 NA NA 0.054767 0.105311 NA 0.043 NA 5.5113996 1101 7 7413149 7413149 T C exonic COL28A1 NA synonymous SNV COL28A1:NM_001037763:exon32:c.A2388G:p.P796P exonic ENSG00000215018 NA synonymous SNV ENSG00000215018:ENST00000399429:exon32:c.A2388G:p.P796P NA NA 7p21.3 NA NA NA NA rs61744841 0.09 0.09 0.106 0.109625 0.0487 0.001 0.0418 0.3389 0.0225 0.04 NA 0.03 0.32 0.0585 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087136 NA NA 0.048182 0.282154 NA 0.123 NA 5.5112846 1101 11 124179835 124179835 C T exonic OR8D1 NA synonymous SNV OR8D1:NM_001002917:exon1:c.G828A:p.V276V exonic ENSG00000196341 NA synonymous SNV ENSG00000196341:ENST00000357821:exon1:c.G828A:p.V276V NA NA 11q24.2 Score=895;Name=V$GR_Q6 NA NA NA rs4936918 0.34 0.34 0.294 0.28754 0.4066 0.4167 0.3429 0.1626 0.1616 0.39 0.42 0.37 0.14 0.3554 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.470242 NA NA 0.39358 0.213766 NA 0.203 NA 5.5110866 1101 15 65108707 65108707 G C intronic PIF1 NA NA NA intronic ENSG00000140451 NA NA NA NA NA 15q22.31 NA Name=CTCF Name=3 NA rs7180207 0.31 0.31 0.296 0.284145 0.4891 0.1101 0.2622 0.2852 0.2669 0.48 0.08 0.3 0.32 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941972 NA NA NA NA NA 0.406 NA 5.5109 1101 14 73963383 73963383 T C exonic HEATR4 NA synonymous SNV HEATR4:NM_203309:exon14:c.A2547G:p.K849K,HEATR4:NM_001220484:exon15:c.A2547G:p.K849K exonic ENSG00000187105 NA synonymous SNV ENSG00000187105:ENST00000334988:exon14:c.A2547G:p.K849K,ENSG00000187105:ENST00000560393:exon14:c.A2406G:p.K802K,ENSG00000187105:ENST00000553558:exon15:c.A2547G:p.K849K Score=336;Name=lod=31 NA 14q24.3 Score=757;Name=V$STAT3_01 NA NA NA rs8014577 0.8 0.8 0.812 0.809704 0.7127 0.8353 0.8112 0.9221 0.7301 0.71 0.84 0.79 0.92 0.7444 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04544 NA NA 0.698813 0.886745 NA 0.775 NA 5.5107536 1101 2 119915249 119915249 T C exonic C1QL2 NA synonymous SNV C1QL2:NM_182528:exon1:c.A597G:p.V199V exonic ENSG00000144119 NA synonymous SNV ENSG00000144119:ENST00000272520:exon1:c.A597G:p.V199V Score=670;Name=lod=706 NA 2q14.2 NA Name=SUZ12 NA NA rs7556873 0.6 0.6 0.574 0.586462 0.7137 0.3562 0.7695 0.5787 0.5736 0.7 0.36 0.76 0.59 0.6894 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320336 1.320336 NA 0.753023 0.616205 NA 0.616 NA 5.5105436 1101 8 23186007 23186007 T C exonic LOXL2 NA synonymous SNV LOXL2:NM_002318:exon6:c.A1038G:p.E346E exonic ENSG00000134013 NA synonymous SNV ENSG00000134013:ENST00000389131:exon6:c.A1038G:p.E346E Score=535;Name=lod=199 NA 8p21.3 NA NA NA NA rs1051146 0.58 0.58 0.556 0.567093 0.7505 0.506 0.5274 0.4531 0.6237 0.75 0.47 0.59 0.46 0.6672 0.75 . . . . . . . . 0.000 P . . . . -0.980 T 0.000 T . 1.597 11.3 -1.42 -0.190 -0.127 11.276 1.597442 1.597442 NA 0.738721 0.497503 NA 0.645 NA 5.5102456 1101 20 5283376 5283376 G A exonic PROKR2 NA synonymous SNV PROKR2:NM_144773:exon2:c.C465T:p.L155L exonic ENSG00000101292 NA synonymous SNV ENSG00000101292:ENST00000217270:exon2:c.C465T:p.L155L,ENSG00000101292:ENST00000546004:exon3:c.C465T:p.L155L Score=428;Name=lod=73 NA 20p12.3 NA NA NA NA rs3746684 0.42 0.42 0.421 0.446486 0.3738 0.504 0.4222 0.4675 0.4509 0.37 0.48 0.41 0.44 0.398 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.36921 NA NA 0.384767 0.457104 NA 0.362 NA 5.5100996 1101 5 36171780 36171780 A G exonic SKP2 NA synonymous SNV SKP2:NM_001243120:exon5:c.A204G:p.S68S,SKP2:NM_005983:exon7:c.A846G:p.S282S,SKP2:NM_032637:exon7:c.A846G:p.S282S exonic ENSG00000145604 NA synonymous SNV ENSG00000145604:ENST00000546211:exon5:c.A204G:p.S68S,ENSG00000145604:ENST00000513151:exon6:c.A711G:p.S237S,ENSG00000145604:ENST00000274254:exon7:c.A846G:p.S282S,ENSG00000145604:ENST00000274255:exon7:c.A846G:p.S282S NA NA 5p13.2 NA NA NA NA rs61755301 0.07 0.07 0.054 0.0623003 0.0557 0.1736 0.0937 0.0045 0.0102 0.04 0.17 0.07 0.01 0.052 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352298 NA NA 0.04907 0.010894 NA 0.029 NA 5.5098966 1101 9 33676027 33676027 C A ncRNA_exonic PTENP1 NA NA NA ncRNA_exonic ENSG00000237984 NA NA NA Score=861;Name=lod=4212 NA 9p13.3 NA NA NA NA rs855465 0.1 0.1 0.107 0.129393 0.0636 0.0258 0.0663 0.2534 0.181 0.07 0.02 0.07 0.25 0.0932 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.172556 NA NA NA NA NA 0.116 NA 5.5098666 1101 9 127643456 127643456 T C exonic GOLGA1 NA synonymous SNV GOLGA1:NM_002077:exon22:c.A2217G:p.E739E exonic ENSG00000136935 NA synonymous SNV ENSG00000136935:ENST00000373555:exon22:c.A2217G:p.E739E Score=556;Name=lod=243 NA 9q33.3 NA NA NA NA rs687434 0.33 0.33 0.332 0.301917 0.4036 0.3433 0.3242 0.2148 0.2566 0.38 0.35 0.33 0.24 0.3484 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.098153 NA NA 0.405465 0.236042 NA 0.326 NA 5.5092016 1101 1 155006999 155006999 C T exonic DCST1 NA synonymous SNV DCST1:NM_001143687:exon3:c.C150T:p.L50L,DCST1:NM_152494:exon3:c.C150T:p.L50L exonic ENSG00000163357 NA synonymous SNV ENSG00000163357:ENST00000368419:exon2:c.C150T:p.L50L,ENSG00000163357:ENST00000295542:exon3:c.C150T:p.L50L,ENSG00000163357:ENST00000392480:exon3:c.C150T:p.L50L,ENSG00000163357:ENST00000423025:exon3:c.C150T:p.L50L,ENSG00000163357:ENST00000525273:exon3:c.C225T:p.L75L Score=395;Name=lod=54 NA 1q22 NA NA NA NA rs6680600 0.54 0.54 0.506 0.565695 0.3579 0.8819 0.5922 0.4266 0.6227 0.36 0.9 0.54 0.41 0.4552 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.389443 1.389443 NA 0.344419 0.430549 NA 0.464 NA 5.5091476 1101 16 74372302 74372302 C T ncRNA_intronic LOC283922 NA NA NA ncRNA_exonic ENSG00000214331 NA NA NA NA NA 16q23.1 Score=888;Name=V$NKX3A_01 NA NA NA rs2549259 NA NA 0.104 NA NA NA NA NA NA NA NA NA NA 0.1579 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950343 NA NA NA NA ID=COSN165260;OCCURENCE=1(breast) 0.051 NA 5.5087666 1101 6 150202033 150202033 A C ncRNA_intronic LOC100652739 NA NA NA ncRNA_exonic ENSG00000217733 NA NA NA Score=821;Name=lod=2880 NA 6q25.1 NA NA NA NA rs9397053 0.24 0.24 0.237 0.237819 0.1581 0.5526 0.1196 0.115 0.2454 0.15 0.55 0.13 0.1 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585481 NA NA NA NA NA 0.275 NA 5.5085666 1101 11 60698054 60698054 G A exonic TMEM132A NA synonymous SNV TMEM132A:NM_017870:exon5:c.G939A:p.L313L,TMEM132A:NM_178031:exon5:c.G939A:p.L313L exonic ENSG00000006118 NA synonymous SNV ENSG00000006118:ENST00000005286:exon5:c.G939A:p.L313L,ENSG00000006118:ENST00000453848:exon5:c.G939A:p.L313L,ENSG00000006118:ENST00000544065:exon5:c.G153A:p.L51L Score=491;Name=lod=132 NA 11q12.2 NA NA NA NA rs2074416 0.32 0.32 0.307 0.296126 0.3897 0.3204 0.3862 0.0961 0.3814 0.39 0.33 0.4 0.12 0.3678 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136407 NA NA 0.400791 0.150023 NA 0.341 NA 5.5083756 1101 9 660290 660290 G A intronic KANK1 NA NA NA ncRNA_exonic ENSG00000229875 NA NA NA Score=592;Name=lod=341 NA 9p24.3 NA NA Name=11 NA rs9407340 0.85 0.85 0.824 0.860423 0.825 0.9692 0.8818 0.7436 0.9274 0.83 0.96 0.85 0.73 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041126 NA NA NA NA NA 0.862 NA 5.5083333 1101 2 21265141 21265141 C A intronic APOB NA NA NA intronic ENSG00000084674 NA NA NA NA NA 2p24.1 NA Name=FOSL2,HSF1,PGC1A,HNF4A_(H-171),FOXA1_(C-20),SP1,Pol2,HNF4A,TCF4,Sin3Ak-20,GATA-2,HDAC2_(SC-6296),FOXA2_(SC-6554),HEY1,FOXA1_(SC-101058),HNF4G_(SC-6558),BHLHE40,p300,TBP,RXRA Name=37 NA rs661665 0.55 0.55 0.519 0.563299 0.492 0.879 0.5331 0.2678 0.7321 0.5 0.87 0.52 0.27 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422688 NA NA NA NA NA 0.522 NA 5.508 1101 6 150202646 150202646 C T ncRNA_intronic LOC100652739 NA NA NA ncRNA_exonic ENSG00000217733 NA NA NA Score=749;Name=lod=1481 NA 6q25.1 NA NA NA NA rs6908862 0.24 0.24 0.039 0.242212 0.159 0.5516 0.1196 0.1316 0.2454 0.15 0.54 0.13 0.13 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675662 NA NA NA NA NA NA NA 5.5076666 1101 6 29855733 29855733 C T ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341,ENSG00000230521 NA NA NA Score=317;Name=lod=26 NA 6p22.1 NA NA NA NA rs62389356 0.08 0.08 0.048 0.101038 0.0626 0.2321 0.0476 0.0015 0.1779 0.06 0.2 0.05 0.002 0.0965 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32976 NA NA NA NA NA 0.08 NA 5.5075666 1101 14 20864049 20864049 A G exonic TEP1 NA synonymous SNV TEP1:NM_007110:exon11:c.T1719C:p.I573I exonic ENSG00000129566 NA synonymous SNV ENSG00000129566:ENST00000556935:exon9:c.T1395C:p.I465I,ENSG00000129566:ENST00000262715:exon11:c.T1719C:p.I573I,ENSG00000129566:ENST00000555727:exon11:c.T1719C:p.I573I NA NA 14q11.2 NA NA NA NA rs2228026 0.03 0.03 0.027 0.0297524 0.0557 NA 0.0274 0.003 0.0716 0.06 NA 0.04 NA 0.0485 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411037 NA NA 0.055116 0.01044 NA 0.007 NA 5.5073506 1101 10 119003564 119003564 T G exonic SLC18A2 NA synonymous SNV SLC18A2:NM_003054:exon3:c.T204G:p.T68T exonic ENSG00000165646 NA synonymous SNV ENSG00000165646:ENST00000298472:exon3:c.T204G:p.T68T NA NA 10q25.3 NA NA NA NA rs363387 0.09 0.09 0.074 0.0840655 0.0447 0.1151 0.1902 0.0772 0.0266 0.04 0.1 0.18 0.08 0.0712 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.210201 NA NA 0.044884 0.065592 NA 0.116 NA 5.5058826 1101 1 21043913 21043913 T C intronic KIF17 NA NA NA UTR5 ENSG00000117245 ENST00000375044:c.-1850A>G NA NA NA NA 1p36.12 NA Name=GATA-2,E2F6,Max,ZBTB7A_(SC-34508) Name=22 NA rs604659 0.69 0.69 0.627 0.670727 0.661 0.8601 0.5937 0.5522 0.7004 0.66 0.87 0.58 0.61 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117796 NA NA NA NA NA 0.435 NA 5.5056667 1101 2 105011965 105011965 A G ncRNA_intronic LOC100287010 NA NA NA ncRNA_exonic ENSG00000233955 NA NA NA Score=787;Name=lod=2097 NA 2q12.1 NA NA NA NA rs11902939 0.34 0.34 0.324 0.358427 0.161 0.3938 0.2666 0.6573 0.1861 0.15 0.39 0.24 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033182 NA NA NA NA NA 0.406 NA 5.5056666 1101 2 234763225 234763225 T C upstream HJURP NA NA NA upstream ENSG00000123485 NA NA NA NA NA 2q37.1 NA Name=TBP,IRF1,HEY1,ELF1_(SC-631),IRF3,NF-YB,Oct-2,SETDB1,SP1,Pol2,TAF7_(SQ-8),Sin3Ak-20,HA-E2F1,Pol2-4H8,c-Fos,E2F1,TAF1,Pol2(b),NF-YA,ELK4,POU2F2,E2F4 Name=148 NA rs622954 0.1 0.1 NA 0.100639 0.161 0.0526 0.1196 0.0734 0.1115 0.13 0.05 0.12 0.09 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480942 NA NA NA NA NA NA NA 5.5056666 1102 12 96066092 96066092 C A ncRNA_exonic PGAM1P5 NA NA NA ncRNA_exonic ENSG00000257150 NA NA NA Score=763;Name=lod=1683 NA 12q22 NA NA NA NA rs78920805 0.1 0.1 0.119 0.102636 0.162 0.1071 0.062 0.0091 0.1922 0.17 0.12 0.08 0.0041 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488424 NA NA NA NA NA 0.036 NA 5.5046666 1102 4 113351822 113351822 G A exonic ALPK1 NA synonymous SNV ALPK1:NM_001253884:exon10:c.G885A:p.G295G,ALPK1:NM_001102406:exon11:c.G1119A:p.G373G,ALPK1:NM_025144:exon11:c.G1119A:p.G373G exonic ENSG00000073331 NA synonymous SNV ENSG00000073331:ENST00000504176:exon10:c.G885A:p.G295G,ENSG00000073331:ENST00000177648:exon11:c.G1119A:p.G373G,ENSG00000073331:ENST00000458497:exon11:c.G1119A:p.G373G NA NA 4q25 NA NA NA NA rs61747381 0.03 0.03 0.012 0.0383387 0.0447 0.001 0.1081 0.0023 0.0695 0.04 NA 0.09 0.01 0.0622 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.305416 NA NA 0.055465 0.011575 NA 0.08 NA 5.5043016 1102 19 1364306 1364306 A G intronic MUM1 NA NA NA intronic ENSG00000160953 NA NA NA NA NA 19p13.3 NA Name=EBF1_(C-8),TCF12,EBF Name=2 NA rs17673260 0.38 0.38 0.361 0.357029 0.496 0.4067 0.4135 0.1188 0.4448 0.5 0.41 0.45 0.12 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37093 NA NA NA NA NA 0.297 NA 5.504 1102 16 65022114 65022114 C T exonic CDH11 NA synonymous SNV CDH11:NM_001797:exon7:c.G945A:p.S315S exonic ENSG00000140937 NA synonymous SNV ENSG00000140937:ENST00000566827:exon6:c.G567A:p.S189S,ENSG00000140937:ENST00000268603:exon7:c.G945A:p.S315S,ENSG00000140937:ENST00000394156:exon7:c.G945A:p.S315S Score=531;Name=lod=191 NA 16q21 NA NA NA NA rs28216 0.27 0.27 0.241 0.223642 0.4066 0.2054 0.255 0.0734 0.2352 0.4 0.23 0.31 0.07 0.3306 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.171768 NA NA 0.425581 0.120291 NA 0.196 NA 5.5038856 1102 3 75477174 75477174 C T ncRNA_intronic FAM86DP NA NA NA ncRNA_intronic ENSG00000244026 NA NA NA NA NA 3p12.3 NA NA Name=31 NA rs35559783 0.09 0.09 0.053 0.0700879 0.163 0.0179 0.1427 0.0098 0.0583 0.16 0.02 0.13 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247795 NA NA NA NA NA 0.145 NA 5.5036666 1102 6 30227397 30227397 C T ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA Name=TBP,HEY1,ELF1_(SC-631),c-Fos,Pol2-4H8,ZNF263,SP1,RFX5_(N-494),Pol2,TAF1 NA NA rs9391806 0.22 0.22 0.169 0.233027 0.163 0.4435 0.3156 0.0144 0.3252 0.16 0.42 0.27 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634701 NA NA NA NA NA 0.275 NA 5.5036666 1102 9 95599825 95599825 G A ncRNA_exonic ANKRD19P NA NA NA ncRNA_exonic ENSG00000187984,ENSG00000226721 NA NA NA Score=489;Name=lod=130 NA 9q22.31 NA NA NA NA rs7045305 0.24 0.24 0.216 0.236621 0.163 0.12 0.3386 0.4092 0.1268 0.15 0.12 0.35 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718287 NA NA NA NA NA 0.232 NA 5.5036666 1102 19 52856955 52856955 C T exonic ZNF610 NA synonymous SNV ZNF610:NM_001161425:exon4:c.C84T:p.D28D,ZNF610:NM_001161426:exon4:c.C84T:p.D28D,ZNF610:NM_001161427:exon4:c.C84T:p.D28D,ZNF610:NM_173530:exon4:c.C84T:p.D28D exonic ENSG00000167554 NA synonymous SNV ENSG00000167554:ENST00000321287:exon4:c.C84T:p.D28D,ENSG00000167554:ENST00000327920:exon4:c.C84T:p.D28D,ENSG00000167554:ENST00000403906:exon4:c.C84T:p.D28D,ENSG00000167554:ENST00000593698:exon4:c.C84T:p.D28D,ENSG00000167554:ENST00000601151:exon4:c.C84T:p.D28D Score=346;Name=lod=34 NA 19q13.41 NA NA NA NA rs1961205 0.37 0.37 0.387 0.413938 0.3926 0.4504 0.3357 0.3903 0.4857 0.39 0.42 0.34 0.33 0.3915 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036202 NA NA 0.378953 0.411938 ID=COSM148718;OCCURENCE=1(stomach) 0.377 NA 5.5036136 1102 11 123468800 123468800 T C intronic GRAMD1B NA NA NA ncRNA_exonic ENSG00000254449 NA NA NA Score=844;Name=lod=3572 NA 11q24.1 NA Name=CTCF NA NA rs1148098 0.87 0.87 0.862 0.872005 0.83 0.997 0.8646 0.767 0.9335 0.83 1 0.84 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379603 NA NA NA NA NA 0.928 NA 5.5033333 1102 11 123468933 123468933 A G intronic GRAMD1B NA NA NA ncRNA_exonic ENSG00000254449 NA NA NA Score=844;Name=lod=3572 NA 11q24.1 NA Name=CTCF NA NA rs1148097 0.87 0.87 0.857 0.872204 0.83 0.997 0.8646 0.7678 0.9335 0.83 1 0.84 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.589201 NA NA NA NA NA 0.928 NA 5.5033333 1102 11 123468965 123468965 A G intronic GRAMD1B NA NA NA ncRNA_exonic ENSG00000254449 NA NA NA Score=844;Name=lod=3572 NA 11q24.1 NA Name=CTCF NA NA rs1709905 0.87 0.87 0.84 0.872204 0.83 0.997 0.8646 0.7678 0.9335 0.83 1 0.84 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531022 NA NA NA NA NA 0.928 NA 5.5033333 1102 11 123468969 123468969 A T intronic GRAMD1B NA NA NA ncRNA_exonic ENSG00000254449 NA NA NA Score=844;Name=lod=3572 NA 11q24.1 NA Name=CTCF NA NA rs1791721 0.87 0.87 NA 0.872204 0.83 0.997 0.8646 0.7678 0.9335 0.83 1 0.84 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341522 NA NA NA NA NA 0.928 NA 5.5033333 1102 5 145246085 145246085 T G exonic GRXCR2 NA nonsynonymous SNV GRXCR2:NM_001080516:exon2:c.A543C:p.L181F exonic ENSG00000204928 NA nonsynonymous SNV ENSG00000204928:ENST00000377976:exon2:c.A543C:p.L181F NA NA 5q32 NA NA NA NA rs2569006 0.7 0.7 0.704 0.754393 0.5845 0.7262 0.732 0.9032 0.773 0.58 0.7 0.69 0.91 0.6658 0.91 1 T 0.0 B 0.0 B 0.245 N 1.000 P -1.01 N 0.43 T -0.985 T 0.000 T 0.036 -0.085 3.586 0.077 -0.154 -0.877 6.431 -0.084576 NA 0.52 0.579884 0.838629 NA 0.833 NA 5.5031494 1102 4 125592440 125592440 T C exonic ANKRD50 NA synonymous SNV ANKRD50:NM_001167882:exon3:c.A1455G:p.L485L,ANKRD50:NM_020337:exon4:c.A1992G:p.L664L exonic ENSG00000151458 NA synonymous SNV ENSG00000151458:ENST00000515641:exon3:c.A1455G:p.L485L,ENSG00000151458:ENST00000504087:exon4:c.A1992G:p.L664L NA NA 4q28.1 NA NA NA NA rs3733472 0.04 0.04 0.044 0.0427316 0.0497 0.0208 0.0389 0.0492 0.0521 0.04 0.03 0.04 0.04 0.056 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.954224 NA NA 0.057907 0.048797 NA 0.072 NA 5.5030596 1102 3 75471230 75471230 C T ncRNA_exonic FAM86DP NA NA NA ncRNA_exonic ENSG00000238278,ENSG00000244026 NA NA NA Score=513;Name=lod=162 NA 3p12.3 NA NA NA NA rs11716994 0.14 0.14 0.125 0.131989 0.164 0.0188 0.1599 0.2337 0.0583 0.16 0.02 0.14 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.630086 NA NA NA NA NA 0.167 NA 5.5026666 1102 5 79596209 79596209 C T ncRNA_exonic LOC644936 NA NA NA ncRNA_exonic ENSG00000184188 NA NA NA Score=859;Name=lod=4113 NA 5q14.1 NA NA NA NA rs11747861 0.15 0.15 0.147 0.147963 0.164 NA 0.1326 0.2806 0.1155 0.16 NA 0.16 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562693 NA NA NA NA NA 0.159 NA 5.5026666 1102 21 47542779 47542779 C T intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 Score=892;Name=V$MEIS1_01 NA NA NA rs17357592 0.09 0.09 0.097 0.0734824 0.1889 0.0258 0.0677 0.031 0.0654 0.18 0.03 0.07 0.04 0.1211 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35986 NA NA 0.187762 0.056287 NA 0.203 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079852.3;CLNDSDB=.;CLNDSDBID=. 5.502238 1102 5 81574182 81574182 C T UTR5 RPS23 NM_001025:c.-40G>A NA NA UTR5 ENSG00000186468 ENST00000296674:c.-40G>A,ENST00000510019:c.-40G>A NA NA NA NA 5q14.2 NA Name=MEF2A,Pol2-4H8,YY1_(C-20),Sin3Ak-20,TAF7_(SQ-8),BCLAF1_(M33-P5B11),Pol2(phosphoS2),YY1,Pol2,Mxi1_(bHLH),SP1,NRSF,GABP,HMGN3,POU2F2,ELK4,Znf143_(16618-1-AP),TAF1,Pol2(b),E2F6_(H-50),IRF1,GTF2F1_(RAP-74),TBP,TCF12,Oct-2,PAX5-C20,ELF1_(SC-631),HEY1,Max,CCNT2,c-Myc Name=148 NA rs6880209 0.23 0.23 0.206 0.230232 0.2982 0.0883 0.2133 0.3623 0.1401 0.29 0.07 0.24 0.31 0.2523 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404002 NA NA 0.280644 0.329442 NA 0.188 NA 5.5021894 1102 8 144997656 144997656 C T exonic PLEC NA synonymous SNV PLEC:NM_201378:exon31:c.G6399A:p.A2133A,PLEC:NM_201379:exon31:c.G6375A:p.A2125A,PLEC:NM_201380:exon31:c.G6852A:p.A2284A,PLEC:NM_201381:exon31:c.G6345A:p.A2115A,PLEC:NM_201382:exon31:c.G6441A:p.A2147A,PLEC:NM_201383:exon31:c.G6453A:p.A2151A,PLEC:NM_201384:exon31:c.G6441A:p.A2147A,PLEC:NM_000445:exon32:c.G6522A:p.A2174A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon31:c.G6852A:p.A2284A,ENSG00000178209:ENST00000345136:exon31:c.G6441A:p.A2147A,ENSG00000178209:ENST00000354589:exon31:c.G6441A:p.A2147A,ENSG00000178209:ENST00000354958:exon31:c.G6375A:p.A2125A,ENSG00000178209:ENST00000356346:exon31:c.G6399A:p.A2133A,ENSG00000178209:ENST00000357649:exon31:c.G6453A:p.A2151A,ENSG00000178209:ENST00000398774:exon31:c.G6345A:p.A2115A,ENSG00000178209:ENST00000527096:exon31:c.G6510A:p.A2170A,ENSG00000178209:ENST00000436759:exon32:c.G6522A:p.A2174A NA NA 8q24.3 NA NA NA NA rs7016416 0.25 0.25 0.228 0.230232 0.4245 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 0.3535 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.860274 NA NA 0.386545 0.085322 ID=COSM454191,COSM454190,COSM1489104;OCCURENCE=1(breast) 0.254 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078888.3;CLNDSDB=.;CLNDSDBID=. 5.5021216 1102 16 24583406 24583406 A G exonic RBBP6 NA synonymous SNV RBBP6:NM_018703:exon17:c.A4917G:p.A1639A,RBBP6:NM_006910:exon18:c.A5019G:p.A1673A exonic ENSG00000122257 NA synonymous SNV ENSG00000122257:ENST00000381039:exon11:c.A2499G:p.A833A,ENSG00000122257:ENST00000348022:exon17:c.A4917G:p.A1639A,ENSG00000122257:ENST00000319715:exon18:c.A5019G:p.A1673A Score=349;Name=lod=35 NA 16p12.1 NA NA NA NA rs7593 0.31 0.31 0.308 0.311302 0.4095 0.0893 0.3343 0.3464 0.3753 0.41 0.1 0.36 0.38 0.3561 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.314908 NA NA 0.398953 0.367091 NA 0.377 NA 5.5021136 1102 3 125642534 125642534 T G ncRNA_intronic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=523;Name=lod=178 NA 3q21.2 NA NA NA NA rs13074445 0.21 0.21 0.137 0.26238 0.165 0.1012 0.1787 0.5893 0.1462 0.14 0.09 0.17 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489458 NA NA NA NA NA 0.014 NA 5.5016666 1102 10 73544638 73544638 A G intronic CDH23 NA NA NA intronic ENSG00000107736 NA NA NA NA NA 10q22.1 NA Name=ZNF263 NA NA rs2394839 0.18 0.18 0.133 0.183506 0.1481 0.2976 0.2378 0.0522 0.2413 0.14 0.32 0.21 0.06 0.1915 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664598 NA NA 0.159374 0.068374 ID=COSM146952;OCCURENCE=1(stomach) 0.203 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039217.1;CLNDSDB=.;CLNDSDBID=. 5.501026 1102 19 48832554 48832554 A G intronic EMP3 NA NA NA intronic ENSG00000142227 NA NA NA NA NA 19q13.33 NA Name=Pol2,Pol2-4H8,USF-1 Name=3 NA rs8102349 0.46 0.46 0.467 0.469449 0.499 0.3482 0.4712 0.6097 0.3732 0.47 0.31 0.5 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912936 NA NA NA NA NA 0.601 NA 5.501 1102 22 32756555 32756555 G C exonic RFPL3 NA synonymous SNV RFPL3:NM_001098535:exon2:c.G690C:p.T230T,RFPL3:NM_006604:exon3:c.G603C:p.T201T exonic ENSG00000128276 NA synonymous SNV ENSG00000128276:ENST00000249007:exon2:c.G690C:p.T230T,ENSG00000128276:ENST00000382088:exon2:c.G603C:p.T201T,ENSG00000128276:ENST00000397468:exon3:c.G603C:p.T201T NA NA 22q12.3 NA NA NA NA rs136471 0.16 0.16 0.157 0.155751 0.0636 0.4603 0.0951 0.0469 0.1268 0.05 0.45 0.1 0.03 0.1024 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497147 NA NA NA NA NA 0.065 NA 5.5006666 1102 1 1225641 1225641 C A intronic SCNN1D NA NA NA intronic ENSG00000162572 NA NA NA NA NA 1p36.33 NA Name=HDAC2_(SC-6296),CTCF,CTCF_(SC-5916),SMC3_(ab9263),GABP,Znf143_(16618-1-AP),Rad21 Name=88 NA rs2748384 0.48 0.48 0.452 0.490815 0.1123 0.8274 0.3213 0.7564 0.2945 0.11 0.82 0.29 0.77 0.2766 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01441 NA NA 0.110774 0.65071 NA 0.312 NA 5.500326 1102 7 100608375 100608375 G A intergenic ACHE,MUC12 dist=114834;dist=4529 NA NA ncRNA_exonic ENSG00000225946 NA NA NA Score=272;Name=lod=17 NA 7q22.1 NA NA Name=2 NA rs75592954 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4997 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.62515 1.62515 NA NA NA NA 0.406 NA 5.5003 1102 1 46806480 46806480 C T UTR5 NSUN4 NM_199044:c.-19C>T NA NA UTR5 ENSG00000117481 ENST00000474844:c.-19C>T,ENST00000307089:c.-19C>T,ENST00000536062:c.-4047C>T NA NA NA NA 1p33 NA Name=USF-1,CTCF,GTF2F1_(RAP-74),RXRA,IRF1,CHD2_(N-1250),TBP,AP-2gamma,Rad21,ELF1_(SC-631),NFKB,HEY1,Max,ZBTB7A_(SC-34508),c-Myc,CCNT2,STAT1,SRF,SIX5,Oct-2,CTCF_(C-20),PAX5-N19,PAX5-C20,TCF4,YY1,Ini1,Pol2(phosphoS2),SMC3_(ab9263),CTCF_(SC-5916),Pol2,NRSF,SP1,Mxi1_(bHLH),PU.1,HDAC2_(SC-6296),KAP1,MEF2A,Pol2-4H8,eGFP-JunD,E2F6,Sin3Ak-20,YY1_(C-20),BCLAF1_(M33-P5B11),TAF7_(SQ-8),CTCFL_(SC-98982),Pol2(b),TAF1,GATA-1,E2F6_(H-50),ETS1,HMGN3,TAL1_(SC-12984),GABP,ELK4,POU2F2 Name=148 NA rs17361749 0.16 0.16 0.138 0.127396 0.2773 0.0188 0.147 0.115 0.0879 0.27 0.02 0.17 0.12 0.2675 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.17813 2.17813 NA 0.288372 0.137665 NA 0.181 NA 5.5001614 1102 1 144881389 144881389 T C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=TAL1_(SC-12984) Name=8 NA rs1614163 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193857 NA NA NA NA NA 0.5 NA 5.5 1102 1 145533314 145533314 T C intronic ITGA10,NBPF10 NA NA NA intronic ENSG00000143127 NA NA NA NA NA 1q21.1 NA Name=EBF1_(C-8) Name=2 NA rs2274619 0.4 0.4 0.365 0.378195 0.5 0.2312 0.4957 0.3684 0.3344 0.49 0.2 0.52 0.4 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.171502 NA NA NA NA NA 0.326 NA 5.5 1102 2 133019556 133019556 T C intergenic ANKRD30BL,GPR39 dist=4014;dist=154591 NA NA upstream ENSG00000233786 NA NA NA Score=654;Name=lod=604 NA 2q21.2 NA NA Name=134 NA rs377788 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466566 NA NA NA NA NA 0.442 NA 5.5 1102 2 133076311 133076311 T C intergenic ANKRD30BL,GPR39 dist=60769;dist=97836 NA NA downstream ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=SETDB1 Name=9 NA rs7340138 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328248 NA NA NA NA NA 0.493 NA 5.5 1102 2 133076366 133076366 T C intergenic ANKRD30BL,GPR39 dist=60824;dist=97781 NA NA downstream ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=SETDB1 Name=9 NA rs13016179 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646992 NA NA NA NA NA 0.486 NA 5.5 1102 2 133076425 133076425 G A intergenic ANKRD30BL,GPR39 dist=60883;dist=97722 NA NA downstream ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=SETDB1 Name=9 NA rs13033462 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836255 NA NA NA NA NA 0.493 NA 5.5 1102 5 97675542 97675542 T C intergenic RIOK2,RGMB dist=1156537;dist=429457 NA NA downstream ENSG00000176183 NA NA NA Score=852;Name=lod=3875 NA 5q15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085939 NA NA NA NA NA NA NA 5.5 1102 7 142246961 142246961 G C intergenic LOC730441,MTRNR2L6 dist=274893;dist=127170 NA NA downstream ENSG00000211714 NA NA NA NA NA 7q34 NA NA Name=87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381404 NA NA NA NA NA NA NA 5.5 1102 10 108309851 108309851 C T intergenic SORCS3,SORCS1 dist=1284858;dist=23570 NA NA upstream ENSG00000215002 NA NA NA Score=715;Name=lod=1078 NA 10q25.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225503 NA NA NA NA NA NA NA 5.5 1102 14 22580987 22580987 C G intergenic OR4E2,DAD1 dist=446749;dist=452820 NA NA downstream ENSG00000211806 NA NA NA Score=313;Name=lod=25 NA 14q11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.229741 3.229741 NA NA NA NA NA NA 5.5 1102 14 106725138 106725138 C A intergenic ADAM6,LINC00226 dist=286780;dist=19131 NA NA downstream ENSG00000211949 NA NA NA NA NA 14q32.33 NA Name=Pol2,SMC3_(ab9263),CTCF,CTCF_(C-20),TCF12 Name=15 NA rs61750790 0.21 0.21 0.179 NA NA NA NA NA NA 0.27 0.31 0.17 0.05 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.986607 NA NA NA NA NA 0.145 NA 5.5 1102 14 106805044 106805044 T A intergenic LINC00226,LINC00221 dist=60078;dist=133411 NA NA downstream ENSG00000231475 NA NA NA NA NA 14q32.33 NA Name=TCF12,PAX5-C20,c-Myc,ZNF263,KAP1,Egr-1,CTCF,CTCFL_(SC-98982) Name=28 NA rs61995640 NA NA 0.262 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3944 NA NA NA NA NA 0.188 NA 5.5 1102 14 106812082 106812082 T C intergenic LINC00226,LINC00221 dist=67116;dist=126373 NA NA downstream ENSG00000254289 NA NA NA Score=433;Name=lod=77 NA 14q32.33 NA Name=Pol2 NA NA rs8008887 NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241157 NA NA NA NA NA 0.406 NA 5.5 1102 14 106881237 106881237 C T intergenic LINC00226,LINC00221 dist=136271;dist=57218 NA NA downstream ENSG00000253467 NA NA NA NA NA 14q32.33 NA Name=EBF,EBF1_(C-8) Name=2 NA rs75496848 0.27 0.27 0.263 NA NA NA NA NA NA 0.27 0.17 0.22 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642247 NA NA NA NA NA 0.21 NA 5.5 1102 14 107130943 107130943 G A intergenic LINC00221,NONE dist=179414;dist=NONE NA NA downstream ENSG00000211972 NA NA NA NA NA 14q32.33 NA Name=Znf143_(16618-1-AP),YY1_(C-20),Rad21,CTCF,YY1,CTCF_(C-20),TCF12 Name=9 NA rs1964193 0.25 0.25 0.16 NA NA NA NA NA NA 0.23 0.29 0.28 0.21 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174338 NA NA NA NA NA 0.268 NA 5.5 1102 14 107169846 107169846 C A intergenic LINC00221,NONE dist=218317;dist=NONE NA NA downstream ENSG00000211973 NA NA NA NA NA 14q32.33 NA Name=EBF,EBF1_(C-8) Name=5 NA rs17114025 0.34 0.34 0.292 NA NA NA NA NA NA 0.4 0.3 0.39 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726476 NA NA NA NA NA 0.435 NA 5.5 1102 14 107183320 107183320 T G intergenic LINC00221,NONE dist=231791;dist=NONE NA NA downstream ENSG00000254056 NA NA NA NA NA 14q32.33 NA Name=CTCF_(SC-5916),TCF12,USF-1,NFKB,ZEB1_(SC-25388),CTCF_(C-20),Znf143_(16618-1-AP),CTCFL_(SC-98982),CTCF,ELF1_(SC-631) Name=24 NA rs57397803 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594843 NA NA NA NA NA 0.051 NA 5.5 1102 19 21752057 21752057 T C intergenic ZNF429,ZNF100 dist=30978;dist=154786 NA NA upstream ENSG00000268081 NA NA NA NA NA 19p12 NA Name=NF-YB,Pol2,NF-YA Name=98 NA rs73025880 NA NA 0.251 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372706 NA NA NA NA NA 0.058 NA 5.5 1102 19 21752077 21752077 G C intergenic ZNF429,ZNF100 dist=30998;dist=154766 NA NA upstream ENSG00000268081 NA NA NA NA NA 19p12 NA Name=NF-YB,NF-YA,Pol2 Name=98 NA rs73025883 NA NA 0.239 NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646238 NA NA NA NA NA 0.072 NA 5.5 1102 21 11039344 11039344 G A UTR3 BAGE2,BAGE3,BAGE4,BAGE5 NM_182482:c.*322C>T;NM_182481:c.*322C>T;NM_181704:c.*537C>T;NM_182484:c.*537C>T NA NA ncRNA_exonic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA Name=6 NA rs3915340 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.16042 NA NA NA NA NA 0.072 NA 5.5 1102 21 11039394 11039394 C T UTR3 BAGE2,BAGE3,BAGE4,BAGE5 NM_182482:c.*272G>A;NM_182481:c.*272G>A;NM_181704:c.*487G>A;NM_182484:c.*487G>A NA NA ncRNA_exonic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA Name=6 NA rs2698623 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758558 NA NA NA NA NA 0.21 NA 5.5 1102 21 11098827 11098827 C T UTR5 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NM_001187:c.-90G>A;NM_182482:c.-110G>A;NM_182481:c.-110G>A;NM_181704:c.-90G>A;NM_182484:c.-90G>A NA NA ncRNA_exonic ENSG00000187172 NA NA NA NA NA 21p11.1 NA Name=TAF1,E2F6_(H-50),ETS1,TAF7_(SQ-8),Pol2,NF-YB,GTF2F1_(RAP-74),Pol2(b),Sin3Ak-20,Pol2-4H8,YY1,SETDB1,c-Myc,HEY1,TBP NA NA rs79274499 NA NA 0.309 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207049 NA NA NA NA NA NA NA 5.5 1102 21 11098863 11098863 A G UTR5 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NM_001187:c.-126T>C;NM_182482:c.-146T>C;NM_182481:c.-146T>C;NM_181704:c.-126T>C;NM_182484:c.-126T>C NA NA ncRNA_exonic ENSG00000187172 NA NA NA NA NA 21p11.1 NA Name=TAF1,E2F6_(H-50),E2F6,TAF7_(SQ-8),Pol2,NF-YB,GTF2F1_(RAP-74),Pol2(b),Pol2-4H8,Sin3Ak-20,YY1,SETDB1,HEY1,c-Myc NA NA rs75318310 NA NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369715 NA NA NA NA NA NA NA 5.5 1102 21 11098932 11098932 C T UTR5 BAGE NM_001187:c.-195G>A NA NA ncRNA_exonic ENSG00000187172 NA NA NA NA NA 21p11.1 NA Name=Pol2,E2F6,E2F6_(H-50),TAF1,NF-YA,CHD2_(N-1250),GTF2F1_(RAP-74),NF-YB,YY1,Sin3Ak-20,Pol2-4H8,Pol2(b),c-Myc,HEY1,SETDB1 NA NA rs71193807 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081336 NA NA NA NA NA NA NA 5.5 1102 10 43134086 43134086 C A upstream ZNF33B NA NA NA upstream ENSG00000196693,ENSG00000272373 NA NA NA NA NA 10q11.21 NA Name=Pol2-4H8,E2F1,KAP1,HA-E2F1,EBF,TBP,Nrf1,SIX5,ZEB1_(SC-25388),HEY1,NFKB,c-Myc,E2F6,NRSF,Pol2,E2F4,Znf143_(16618-1-AP),TAF1,CHD2_(N-1250),EBF1_(C-8),ELF1_(SC-631) Name=129 NA rs3740329 0.23 0.23 0.228 0.276757 0.167 0.128 0.2248 0.4728 0.3149 0.16 0.13 0.22 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120056 NA NA NA NA NA 0.203 NA 5.4996666 1102 10 97604503 97604503 T C ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_intronic ENSG00000226688,ENSG00000240527 NA NA NA NA NA 10q24.1 Score=788;Name=V$POU3F2_01 NA NA NA rs3176885 0.25 0.25 0.263 0.28135 0.167 0.2202 0.196 0.3949 0.3691 0.17 0.22 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827523 NA NA NA NA NA 0.29 NA 5.4996666 1102 10 97607075 97607075 C T ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_intronic ENSG00000226688,ENSG00000240527 NA NA NA NA NA 10q24.1 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs3181123 0.25 0.25 0.263 0.28115 0.167 0.2192 0.196 0.3949 0.3691 0.17 0.22 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413042 NA NA NA NA NA 0.29 NA 5.4996666 1102 10 8006798 8006798 A G exonic TAF3 NA nonsynonymous SNV TAF3:NM_031923:exon3:c.A1325G:p.N442S exonic ENSG00000165632 NA nonsynonymous SNV ENSG00000165632:ENST00000344293:exon3:c.A1325G:p.N442S NA NA 10p14 NA NA NA NA rs4747647 0.57 0.57 0.531 0.542133 0.6203 0.7103 0.7349 0.2632 0.5286 0.62 0.72 0.71 0.23 0.6047 0.72 0.76 T 0.003 B 0.003 B 0.022 N 1.000 P 1.225 L 2.27 T -0.981 T 0.000 T 0.004 -0.334 2.419 1.74 0.358 -0.160 6.774 -0.333541 NA 0.34 0.608717 0.357999 ID=COSM427970;OCCURENCE=1(breast) 0.507 NA 5.4996164 1102 18 40323497 40323497 G T exonic RIT2 NA synonymous SNV RIT2:NM_002930:exon5:c.C615A:p.L205L exonic ENSG00000152214 NA synonymous SNV ENSG00000152214:ENST00000326695:exon5:c.C615A:p.L205L Score=524;Name=lod=180 NA 18q12.3 NA NA NA NA rs1804730 0.58 0.58 0.58 0.589856 0.3519 0.6984 0.6023 0.8215 0.4008 0.33 0.72 0.57 0.81 0.4541 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167852 NA NA 0.361163 0.746936 NA 0.63 NA 5.4995036 1102 19 30193721 30193721 G A exonic C19orf12 NA synonymous SNV C19orf12:NM_001031726:exon3:c.C357T:p.T119T,C19orf12:NM_001256047:exon3:c.C324T:p.T108T,C19orf12:NM_031448:exon3:c.C324T:p.T108T exonic ENSG00000131943 NA synonymous SNV ENSG00000131943:ENST00000392276:exon2:c.C132T:p.T44T,ENSG00000131943:ENST00000323670:exon3:c.C324T:p.T108T,ENSG00000131943:ENST00000392278:exon3:c.C357T:p.T119T NA NA 19q12 NA NA Name=7 NA rs10424582 0.61 0.61 0.602 0.613818 0.7565 0.3006 0.5216 0.7905 0.6166 0.75 0.26 0.59 0.8 0.667 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21695 NA NA 0.74407 0.76759 NA 0.63 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116507.1;CLNDSDB=.;CLNDSDBID=. 5.4990966 1102 17 78082504 78082504 G A exonic GAA NA synonymous SNV GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q exonic ENSG00000171298 NA synonymous SNV ENSG00000171298:ENST00000302262:exon8:c.G1203A:p.Q401Q,ENSG00000171298:ENST00000390015:exon9:c.G1203A:p.Q401Q Score=514;Name=lod=163 NA 17q25.3 NA NA NA NA rs1800304 0.61 0.61 0.613 0.602835 0.7515 0.5427 0.5418 0.5166 0.6718 0.75 0.57 0.55 0.49 0.6784 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975606 NA NA 0.738023 0.539318 NA 0.638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078155.2;CLNDSDB=.;CLNDSDBID=. 5.4987436 1102 2 29356669 29356669 A G exonic CLIP4 NA synonymous SNV CLIP4:NM_024692:exon5:c.A516G:p.T172T exonic ENSG00000115295 NA synonymous SNV ENSG00000115295:ENST00000401617:exon4:c.A195G:p.T65T,ENSG00000115295:ENST00000438819:exon4:c.A195G:p.T65T,ENSG00000115295:ENST00000320081:exon5:c.A516G:p.T172T,ENSG00000115295:ENST00000401605:exon5:c.A516G:p.T172T,ENSG00000115295:ENST00000404424:exon5:c.A516G:p.T172T,ENSG00000115295:ENST00000415891:exon5:c.A516G:p.T172T,ENSG00000115295:ENST00000449202:exon5:c.A516G:p.T172T Score=415;Name=lod=65 NA 2p23.2 NA NA NA NA rs3100232 0.42 0.42 0.462 0.415136 0.4006 0.3204 0.317 0.6747 0.2464 0.38 0.35 0.32 0.65 0.3704 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505701 NA NA 0.396977 0.607127 NA 0.435 NA 5.4986896 1102 21 36421036 36421036 T C intronic RUNX1 NA NA NA intronic ENSG00000159216 NA NA NA NA NA 21q22.12 NA Name=Pol2,YY1_(C-20),TAF1,YY1,Pol2-4H8,NFKB,PAX5-N19,SRF Name=132 NA rs8133634 0.58 0.58 0.585 0.573083 0.502 0.5427 0.4524 0.8729 0.3579 0.52 0.51 0.48 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301672 1.301672 NA NA NA NA 0.478 NA 5.498 1102 7 132192295 132192295 G A exonic PLXNA4 NA synonymous SNV PLXNA4:NM_001105543:exon2:c.C1158T:p.L386L,PLXNA4:NM_020911:exon2:c.C1158T:p.L386L,PLXNA4:NM_181775:exon3:c.C1158T:p.L386L exonic ENSG00000221866 NA synonymous SNV ENSG00000221866:ENST00000321063:exon2:c.C1158T:p.L386L,ENSG00000221866:ENST00000359827:exon2:c.C1158T:p.L386L,ENSG00000221866:ENST00000423507:exon2:c.C1158T:p.L386L,ENSG00000221866:ENST00000378539:exon3:c.C1158T:p.L386L Score=586;Name=lod=320 NA 7q32.3 NA NA NA NA rs156961 0.37 0.37 0.379 0.393171 0.3917 0.2708 0.3588 0.5159 0.3793 0.4 0.26 0.34 0.48 0.388 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571591 NA NA 0.389186 0.479119 NA 0.536 NA 5.4977806 1102 11 33076191 33076191 T C exonic TCP11L1 NA synonymous SNV TCP11L1:NM_001145541:exon3:c.T216C:p.G72G,TCP11L1:NM_018393:exon3:c.T216C:p.G72G exonic ENSG00000176148 NA synonymous SNV ENSG00000176148:ENST00000334274:exon3:c.T216C:p.G72G,ENSG00000176148:ENST00000432887:exon3:c.T216C:p.G72G,ENSG00000176148:ENST00000527661:exon3:c.T216C:p.G72G,ENSG00000176148:ENST00000528107:exon3:c.T216C:p.G72G,ENSG00000176148:ENST00000531632:exon3:c.T216C:p.G72G,ENSG00000176148:ENST00000602733:exon3:c.T216C:p.G72G,ENSG00000176148:ENST00000530419:exon4:c.T216C:p.G72G Score=472;Name=lod=111 NA 11p13 Score=934;Name=V$AP1FJ_Q2 NA NA NA rs2273544 0.73 0.73 0.725 0.717053 0.7356 0.881 0.67 0.6536 0.6483 0.73 0.88 0.67 0.62 0.7043 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510489 NA NA 0.729409 0.672343 NA 0.688 NA 5.4973576 1102 19 11034039 11034039 T A exonic YIPF2 NA synonymous SNV YIPF2:NM_024029:exon9:c.A879T:p.P293P exonic ENSG00000130733 NA synonymous SNV ENSG00000130733:ENST00000591872:exon2:c.A168T:p.P56P,ENSG00000130733:ENST00000586575:exon8:c.A300T:p.P100P,ENSG00000130733:ENST00000590329:exon8:c.A762T:p.P254P,ENSG00000130733:ENST00000253031:exon9:c.A879T:p.P293P,ENSG00000130733:ENST00000586748:exon9:c.A879T:p.P293P NA NA 19p13.2 NA NA NA NA rs17850995 0.03 0.03 0.022 0.0231629 0.0577 NA 0.0677 0.0045 0.0051 0.05 NA 0.08 0.01 0.0448 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234318 NA NA 0.066977 0.017476 NA NA NA 5.4971896 1102 5 133897829 133897829 C T intronic PHF15 NA NA NA intronic ENSG00000043143 NA NA NA NA NA 5q31.1 NA Name=MafK_(ab50322),MafK_(SC-477),GATA-2,c-Fos,c-Jun Name=117 NA rs329304 0.37 0.37 0.355 0.353834 0.503 0.3313 0.4352 0.2012 0.3722 0.5 0.29 0.45 0.2 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039157 NA NA NA NA NA 0.355 NA 5.497 1102 7 6970401 6970401 T G intergenic CCZ1B,LOC100131257 dist=104475;dist=145000 NA NA ncRNA_exonic ENSG00000226943 NA NA NA Score=505;Name=lod=150 NA 7p22.1 NA Name=Rad21,CTCF NA NA rs7800800 0.65 0.65 0.647 0.682708 0.503 0.7341 0.6455 0.8517 0.6125 0.5 0.73 0.6 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134373 NA NA NA NA NA 0.507 NA 5.497 1102 19 35741456 35741456 T C exonic LSR NA synonymous SNV LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V exonic ENSG00000105699 NA synonymous SNV ENSG00000105699:ENST00000347609:exon2:c.T381C:p.V127V,ENSG00000105699:ENST00000354900:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000360798:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000361790:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000427250:exon2:c.T348C:p.V116V,ENSG00000105699:ENST00000601623:exon2:c.T270C:p.V90V,ENSG00000105699:ENST00000602122:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000605618:exon2:c.T369C:p.V123V Score=456;Name=lod=95 NA 19q13.12 Score=803;Name=V$AHR_01 NA NA NA rs2073900 0.59 0.59 0.551 0.563898 0.7445 0.4683 0.6844 0.3888 0.6278 0.74 0.49 0.69 0.39 0.6816 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121604 NA NA 0.743605 0.453926 NA 0.529 NA 5.4969616 1102 7 107838464 107838464 G T exonic NRCAM NA synonymous SNV NRCAM:NM_001037132:exon11:c.C1287A:p.V429V,NRCAM:NM_001193583:exon13:c.C1230A:p.V410V,NRCAM:NM_001193584:exon13:c.C1230A:p.V410V,NRCAM:NM_005010:exon13:c.C1269A:p.V423V,NRCAM:NM_001193582:exon14:c.C1287A:p.V429V exonic ENSG00000091129 NA synonymous SNV ENSG00000091129:ENST00000417701:exon11:c.C1269A:p.V423V,ENSG00000091129:ENST00000425651:exon11:c.C1287A:p.V429V,ENSG00000091129:ENST00000351718:exon13:c.C1269A:p.V423V,ENSG00000091129:ENST00000379024:exon13:c.C1230A:p.V410V,ENSG00000091129:ENST00000379028:exon14:c.C1287A:p.V429V,ENSG00000091129:ENST00000413765:exon14:c.C1230A:p.V410V,ENSG00000091129:ENST00000379022:exon15:c.C1287A:p.V429V NA NA 7q31.1 NA Name=MafF_(M8194) Name=2 NA rs381318 0.7 0.7 0.672 0.661342 0.7416 0.88 0.7666 0.388 0.6483 0.74 0.88 0.76 0.36 0.7068 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946329 NA NA 0.721395 0.443486 NA 0.565 NA 5.4968716 1102 17 8076778 8076778 C T UTR3 TMEM107 NM_183065:c.*743G>A,NM_032354:c.*743G>A NA NA ncRNA_exonic ENSG00000200463 NA NA NA Score=487;Name=lod=127 NA 17p13.1 NA Name=FOSL1_(SC-183),Max,GR,ELF1_(SC-631),FOXA1_(SC-101058),HNF4G_(SC-6558),Oct-2,CTCF,BHLHE40,p300,CHD2_(N-1250),BATF,RXRA,CEBPB,GTF2F1_(RAP-74),ETS1,TAF1,GATA-1,MafK_(SC-477),CTCFL_(SC-98982),POU2F2,ZBTB33,HMGN3,Mxi1_(bHLH),PU.1,SP1,NRSF,Pol2,SMC3_(ab9263),MEF2C_(SC-13268),Pol2(phosphoS2),TAF7_(SQ-8),BCL11A,BCLAF1_(M33-P5B11),YY1_(C-20),BRCA1_(C-1863),IRF4_(M-17),eGFP-JunD,TR4,USF1_(SC-8983),GATA3_(SC-268),MEF2A,CCNT2,c-Myc,ZEB1_(SC-25388),eGFP-GATA2,HEY1,BCL3,NFKB,PAX5-C20,PAX5-N19,POU5F1_(SC-9081),SIX5,MafK_(ab50322),SETDB1,SRF,p300_(N-15),GTF2B,USF-1,TCF12,THAP1_(SC-98174),TBP,GATA2_(CG2-96),Pol2(b),JunD,FOSL2,eGFP-JunB,AP-2alpha,SIRT6,FOXA1_(C-20),RFX5_(N-494),GCN5,Egr-1,NANOG_(SC-33759),STAT3,YY1,Pbx3,c-Jun,Sin3Ak-20,GATA-2,E2F1,Pol2-4H8,HDAC2_(SC-6296),KAP1,ZNF263 Name=147 NA rs9894790 0.62 0.62 0.573 0.630192 0.6799 0.495 0.6988 0.5877 0.727 0.68 0.54 0.68 0.57 0.6692 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488129 NA NA 0.654194 0.634132 NA 0.63 NA 5.496706 1102 3 125641394 125641394 T G ncRNA_intronic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=425;Name=lod=71 NA 3q21.2 NA NA NA NA rs13315434 0.25 0.25 0.27 0.269569 0.17 0.1071 0.1801 0.6059 0.1483 0.17 0.1 0.2 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54849 NA NA NA NA NA 0.304 NA 5.4966666 1102 3 125642587 125642587 A G ncRNA_intronic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=523;Name=lod=178 NA 3q21.2 NA NA NA NA rs13094642 0.21 0.21 0.171 0.269369 0.17 0.1071 0.1787 0.6059 0.1483 0.14 0.09 0.17 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119397 NA NA NA NA NA 0.116 NA 5.4966666 1102 3 125642621 125642621 C T ncRNA_intronic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=523;Name=lod=178 NA 3q21.2 NA NA NA NA rs13094793 0.24 0.24 0.218 0.269369 0.17 0.1071 0.1787 0.6059 0.1483 0.16 0.1 0.2 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23132 NA NA NA NA NA 0.181 NA 5.4966666 1102 3 125643860 125643860 G A ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA NA NA 3q21.2 NA Name=ERalpha_a NA NA rs13063122 0.25 0.25 0.27 0.271166 0.17 0.1062 0.1758 0.6157 0.1472 0.17 0.1 0.19 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054488 NA NA NA NA NA 0.116 NA 5.4966666 1102 18 29237860 29237860 C T intronic B4GALT6 NA NA NA intronic ENSG00000118276 NA NA NA NA NA 18q12.1 NA Name=KAP1 Name=12 NA rs1449087 0.49 0.49 0.471 0.47504 0.504 0.6964 0.4942 0.1014 0.7086 0.51 0.76 0.5 0.13 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616574 NA NA NA NA NA 0.42 NA 5.496 1102 1 55089071 55089071 C T UTR5 FAM151A NM_176782:c.-3G>A NA NA ncRNA_UTR5 ENSG00000162391 NA NA NA NA NA 1p32.3 NA NA Name=6 NA rs17110842 0.01 0.01 0.013 0.013778 NA NA 0.0029 0.0507 NA NA NA 0.0028 0.05 0.0038 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036758 NA NA 0.000233 0.036314 NA 0.014 NA 5.495967 1102 22 42971987 42971987 T C ncRNA_exonic RRP7B NA NA NA ncRNA_exonic ENSG00000182841 NA NA NA Score=534;Name=lod=197 NA 22q13.2 NA NA NA NA rs137064 0.43 0.43 0.381 0.440695 0.171 0.6845 0.2277 0.6831 0.2904 0.19 0.64 0.25 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924064 NA NA NA NA ID=COSM1130417;OCCURENCE=1(prostate) 0.341 NA 5.4956666 1102 6 161139480 161139480 C T exonic PLG NA synonymous SNV PLG:NM_000301:exon8:c.C942T:p.F314F exonic ENSG00000122194 NA synonymous SNV ENSG00000122194:ENST00000308192:exon8:c.C942T:p.F314F Score=511;Name=lod=159 NA 6q26 NA NA NA NA rs1130656 0.37 0.37 0.345 0.34984 0.3897 0.4554 0.2824 0.2368 0.4008 0.4 0.49 0.3 0.24 0.3785 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077102 NA NA 0.403023 0.266909 ID=COSM1131985;OCCURENCE=1(prostate) 0.268 NA 5.4954436 1102 6 150004779 150004779 A G exonic LATS1 NA synonymous SNV LATS1:NM_001270519:exon4:c.T1446C:p.S482S,LATS1:NM_004690:exon4:c.T1446C:p.S482S exonic ENSG00000131023 NA synonymous SNV ENSG00000131023:ENST00000253339:exon3:c.T1446C:p.S482S,ENSG00000131023:ENST00000392273:exon4:c.T1446C:p.S482S,ENSG00000131023:ENST00000543571:exon4:c.T1446C:p.S482S NA NA 6q25.1 NA NA Name=20 NA rs3798761 0.56 0.56 0.539 0.552316 0.3579 0.8244 0.6369 0.5779 0.3773 0.35 0.8 0.6 0.6 0.4493 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34986 NA NA 0.364419 0.54108 NA 0.609 NA 5.4950476 1103 18 72998004 72998004 T C exonic TSHZ1 NA synonymous SNV TSHZ1:NM_005786:exon2:c.T507C:p.Y169Y exonic ENSG00000179981 NA synonymous SNV ENSG00000179981:ENST00000322038:exon2:c.T507C:p.Y169Y,ENSG00000179981:ENST00000560918:exon2:c.T507C:p.Y169Y,ENSG00000179981:ENST00000580243:exon2:c.T642C:p.Y214Y Score=387;Name=lod=50 NA 18q22.3 NA NA NA NA rs3744908 0.28 0.28 0.255 0.275759 0.4085 0.1687 0.3545 0.1293 0.3916 0.41 0.16 0.41 0.12 0.3622 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.519401 NA NA 0.401047 0.168407 NA 0.225 NA 5.4949196 1103 9 115931593 115931593 G A exonic FKBP15 NA synonymous SNV FKBP15:NM_015258:exon26:c.C3396T:p.T1132T exonic ENSG00000119321 NA synonymous SNV ENSG00000119321:ENST00000238256:exon26:c.C3396T:p.T1132T,ENSG00000119321:ENST00000446284:exon26:c.C3471T:p.T1157T NA NA 9q32 NA NA NA NA rs1128122 0.04 0.04 0.039 0.0611022 0.0467 0.0387 0.0317 0.0363 0.1534 0.04 0.02 0.03 0.04 0.0619 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407621 NA NA 0.063375 0.044566 NA 0.087 NA 5.4946916 1103 3 125642614 125642614 G A ncRNA_intronic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA Score=523;Name=lod=178 NA 3q21.2 NA NA NA NA rs13095106 0.24 0.24 0.21 0.272165 0.172 0.1081 0.1787 0.6059 0.1595 0.16 0.1 0.19 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127032 NA NA NA NA NA 0.181 NA 5.4946666 1103 15 42192885 42192885 G A exonic EHD4 NA synonymous SNV EHD4:NM_139265:exon6:c.C1584T:p.L528L exonic ENSG00000103966 NA synonymous SNV ENSG00000103966:ENST00000220325:exon6:c.C1584T:p.L528L NA NA 15q15.1 NA NA NA NA rs113393602 0.04 0.04 0.023 0.0409345 0.0517 0.0129 0.0634 0.0234 0.0665 0.06 0.02 0.06 0.02 0.0631 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437464 NA NA 0.057482 0.030214 NA 0.029 NA 5.4943846 1103 6 149983216 149983216 G A exonic LATS1 NA synonymous SNV LATS1:NM_004690:exon8:c.C3042T:p.D1014D exonic ENSG00000131023 NA synonymous SNV ENSG00000131023:ENST00000253339:exon7:c.C3042T:p.D1014D,ENSG00000131023:ENST00000543571:exon8:c.C3042T:p.D1014D Score=749;Name=lod=1475 NA 6q25.1 NA NA NA NA rs3924871 0.56 0.56 0.55 0.550719 0.3588 0.8214 0.6326 0.5749 0.3783 0.35 0.8 0.6 0.59 0.4492 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161498 NA NA 0.364302 0.536541 NA 0.609 NA 5.4943646 1103 4 8230235 8230235 T C exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.T2814C:p.L938L exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.T2814C:p.L938L,ENSG00000125089:ENST00000539824:exon12:c.T2586C:p.L862L NA NA 4p16.1 NA Name=NFKB,USF-1 Name=3 NA rs1281151 0.58 0.58 0.561 0.55651 0.7346 0.5169 0.549 0.3737 0.6667 0.73 0.49 0.62 0.41 0.6675 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.344556 NA NA 0.770377 0.444444 ID=COSM448222;OCCURENCE=1(breast) 0.543 NA 5.4941896 1103 22 37770357 37770357 A G exonic ELFN2 NA synonymous SNV ELFN2:NM_052906:exon3:c.T1218C:p.F406F exonic ENSG00000166897 NA synonymous SNV ENSG00000166897:ENST00000349653:exon1:c.T1218C:p.F406F,ENSG00000166897:ENST00000402918:exon3:c.T1218C:p.F406F Score=601;Name=lod=368 NA 22q13.1 NA NA NA NA rs7292751 0.46 0.46 0.429 0.446086 0.3698 0.3492 0.6225 0.6135 0.273 0.38 0.37 0.57 0.61 0.4221 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355653 NA NA 0.380581 0.615751 NA 0.471 NA 5.4941856 1103 9 90500224 90500224 C T exonic SPATA31E1 NA synonymous SNV SPATA31E1:NM_178828:exon4:c.C822T:p.P274P exonic ENSG00000177992 NA synonymous SNV ENSG00000177992:ENST00000325643:exon4:c.C822T:p.P274P NA NA 9q22.1 NA NA NA NA rs58932350 0.1 0.1 0.089 0.102636 0.0636 0.0347 0.0418 0.267 0.0337 0.07 0.03 0.05 0.25 0.0614 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349876 NA NA 0.047907 0.210168 NA 0.109 NA 5.4937596 1103 12 120741382 120741382 G A exonic SIRT4 NA synonymous SNV SIRT4:NM_012240:exon2:c.G18A:p.A6A exonic ENSG00000089163 NA synonymous SNV ENSG00000089163:ENST00000202967:exon2:c.G18A:p.A6A NA NA 12q24.31 NA NA NA NA rs61748115 0.08 0.08 0.079 0.0836661 0.0537 0.1151 0.1902 0.0272 0.0828 0.06 0.11 0.15 0.03 0.0738 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.972845 1.972845 NA 0.045465 0.035179 NA 0.065 NA 5.4937016 1103 1 235972435 235972435 T C exonic LYST NA synonymous SNV LYST:NM_000081:exon5:c.A1683G:p.L561L exonic ENSG00000143669 NA synonymous SNV ENSG00000143669:ENST00000389793:exon5:c.A1683G:p.L561L,ENSG00000143669:ENST00000389794:exon5:c.A1683G:p.L561L,ENSG00000143669:ENST00000536965:exon5:c.A1683G:p.L561L Score=272;Name=lod=17 NA 1q42.3 NA NA NA NA rs3820553 0.33 0.33 0.334 0.302716 0.4235 0.0665 0.2983 0.4879 0.1748 0.42 0.09 0.31 0.49 0.3499 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866139 NA NA 0.399651 0.508852 NA 0.312 NA 5.4936156 1103 18 47376128 47376128 A G intronic MYO5B NA NA NA ncRNA_exonic ENSG00000267322 NA NA NA NA NA 18q21.1 NA Name=TCF4,Pol2,eGFP-JunD,TAF1,CEBPB,GTF2F1_(RAP-74),Max,ZNF263,c-Fos,E2F1,c-Jun,Pol2(b),JunD,FOSL2,TBP,eGFP-FOS Name=125 NA rs490697 0.89 0.89 0.897 0.90016 0.84 0.9613 0.9092 0.879 0.9213 0.84 0.97 0.9 0.9 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126143 NA NA NA NA NA 0.812 NA 5.4933333 1103 7 100608710 100608710 A C intergenic ACHE,MUC12 dist=115169;dist=4194 NA NA ncRNA_exonic ENSG00000225946 NA NA NA NA NA 7q22.1 NA Name=Rad21,CTCF,GABP Name=5 NA rs62483706 NA NA NA 0.0357428 0.006 0.0823 0.013 0.0416 0.0266 NA NA NA NA 0.5007 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.875286 NA NA NA NA NA 0.457 NA 5.4933 1103 6 10398982 10398982 A T intronic TFAP2A NA NA NA intronic ENSG00000137203 NA NA NA NA NA 6p24.3 NA Name=Pol2,SUZ12 Name=8 NA rs303048 0.34 0.34 0.354 0.329473 0.1441 0.2728 0.2277 0.7398 0.0961 0.14 0.31 0.28 0.72 0.2108 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200437 NA NA 0.15186 0.656151 NA 0.377 NA 5.49324 1103 7 1478495 1478495 A G exonic MICALL2 NA synonymous SNV MICALL2:NM_182924:exon10:c.T2103C:p.P701P exonic ENSG00000164877 NA nonsynonymous SNV ENSG00000164877:ENST00000413446:exon9:c.T1973C:p.L658P NA NA 7p22.3 NA NA NA NA rs4492283 0.24 0.24 0.225 0.253195 0.1362 0.0288 0.3098 0.5605 0.1493 0.14 0.04 0.31 0.59 0.2028 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506932 NA 0 0.167791 0.491148 NA 0.304 NA 5.493209 1103 6 149953981 149953981 C T exonic KATNA1 NA synonymous SNV KATNA1:NM_001204076:exon3:c.G234A:p.L78L,KATNA1:NM_007044:exon3:c.G234A:p.L78L exonic ENSG00000186625 NA synonymous SNV ENSG00000186625:ENST00000335647:exon2:c.G234A:p.L78L,ENSG00000186625:ENST00000335643:exon3:c.G234A:p.L78L,ENSG00000186625:ENST00000367411:exon3:c.G234A:p.L78L,ENSG00000186625:ENST00000420200:exon3:c.G234A:p.L78L,ENSG00000186625:ENST00000444282:exon3:c.G234A:p.L78L Score=621;Name=lod=445 NA 6q25.1 NA NA NA NA rs9800580 0.57 0.57 0.555 0.561502 0.3579 0.8224 0.6398 0.6074 0.3845 0.35 0.8 0.6 0.62 0.4532 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04483 NA NA 0.362442 0.573309 NA 0.601 NA 5.4931246 1103 7 91641928 91641928 A G exonic AKAP9 NA synonymous SNV AKAP9:NM_005751:exon9:c.A3504G:p.E1168E,AKAP9:NM_147185:exon9:c.A3504G:p.E1168E exonic ENSG00000127914 NA synonymous SNV ENSG00000127914:ENST00000356239:exon9:c.A3504G:p.E1168E,ENSG00000127914:ENST00000358100:exon10:c.A3540G:p.E1180E,ENSG00000127914:ENST00000359028:exon10:c.A3540G:p.E1180E Score=555;Name=lod=241 NA 7q21.2 NA NA NA NA rs13245393 0.36 0.36 0.375 0.373802 0.3867 0.1617 0.3573 0.5076 0.41 0.39 0.17 0.38 0.53 0.3838 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411998 NA NA 0.40314 0.517249 NA 0.413 NA 5.4930266 1103 2 207101213 207101213 A G intergenic GPR1,ZDBF2 dist=18442;dist=38310 NA NA ncRNA_exonic ENSG00000159186 NA NA NA Score=265;Name=lod=16 NA 2q33.3 NA NA Name=2 NA rs2359165 NA NA NA 0.561102 0.507 0.5079 0.5994 0.6316 0.5491 NA NA NA NA NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749508 NA NA NA NA NA 0.5 NA 5.493 1103 6 24505030 24505030 A G intronic ALDH5A1 NA NA NA intronic ENSG00000112294 NA NA NA NA NA 6p22.3 NA Name=CEBPB,FOSL2,GABP,HDAC2_(SC-6296) Name=12 NA rs2744583 0.43 0.43 0.423 0.438898 0.507 0.2688 0.3329 0.5461 0.4744 0.51 0.27 0.38 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.405055 2.405055 NA NA NA ID=COSN167707;OCCURENCE=1(large_intestine),1(endometrium) 0.514 NA 5.493 1103 13 90823825 90823825 G T intergenic LINC00559,MIR622 dist=51854;dist=59611 NA NA ncRNA_exonic ENSG00000235879 NA NA NA Score=789;Name=lod=2137 NA 13q31.3 NA NA Name=3 NA rs9560569 0.53 0.53 0.512 0.542332 0.507 0.62 0.5058 0.4334 0.6718 0.53 0.62 0.55 0.43 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622895 NA NA NA NA NA 0.522 NA 5.493 1103 19 24015602 24015602 C T intergenic RPSAP58,ZNF726 dist=4683;dist=82082 NA NA ncRNA_exonic ENSG00000233836 NA NA NA Score=407;Name=lod=60 NA 19p12 NA Name=SETDB1,ZNF274,KAP1 NA NA rs2364757 0.36 0.36 0.344 0.31869 0.507 0.2054 0.3573 0.289 0.2546 0.5 0.23 0.38 0.26 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5826 NA NA NA NA NA 0.391 NA 5.493 1103 19 16872940 16872940 G A exonic NWD1 NA synonymous SNV NWD1:NM_001007525:exon8:c.G2124A:p.L708L exonic ENSG00000188039 NA synonymous SNV ENSG00000188039:ENST00000339803:exon4:c.G1719A:p.L573L,ENSG00000188039:ENST00000379808:exon6:c.G2124A:p.L708L,ENSG00000188039:ENST00000552788:exon6:c.G2124A:p.L708L,ENSG00000188039:ENST00000523826:exon7:c.G1506A:p.L502L,ENSG00000188039:ENST00000549814:exon7:c.G2124A:p.L708L,ENSG00000188039:ENST00000524140:exon8:c.G2124A:p.L708L Score=419;Name=lod=67 NA 19p13.11 NA NA NA NA rs773852 0.36 0.36 0.39 0.39976 0.3917 0.1895 0.2709 0.6172 0.4223 0.39 0.17 0.31 0.57 0.3832 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4181 NA NA 0.398837 0.567408 NA 0.348 NA 5.4929296 1103 19 19307797 19307797 C T exonic RFXANK NA synonymous SNV RFXANK:NM_003721:exon4:c.C213T:p.T71T,RFXANK:NM_134440:exon4:c.C210T:p.T70T exonic ENSG00000064490 NA synonymous SNV ENSG00000064490:ENST00000535017:exon2:c.C108T:p.T36T,ENSG00000064490:ENST00000392324:exon3:c.C210T:p.T70T,ENSG00000064490:ENST00000407360:exon3:c.C213T:p.T71T,ENSG00000064490:ENST00000540981:exon3:c.C213T:p.T71T,ENSG00000064490:ENST00000303088:exon4:c.C213T:p.T71T,ENSG00000064490:ENST00000353145:exon4:c.C210T:p.T70T,ENSG00000064490:ENST00000456252:exon4:c.C213T:p.T71T,ENSG00000064490:ENST00000593273:exon4:c.C210T:p.T70T NA NA 19p13.11 NA NA NA NA rs72997200 0.03 0.03 0.02 0.028754 0.0596 NA 0.036 0.0008 0.0593 0.06 NA 0.04 0.0041 0.0523 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239429 NA NA 0.062442 0.01271 NA 0.109 NA 5.4923246 1103 12 120762837 120762837 A G exonic PLA2G1B NA synonymous SNV PLA2G1B:NM_000928:exon3:c.T222C:p.Y74Y exonic ENSG00000170890 NA synonymous SNV ENSG00000170890:ENST00000549767:exon2:c.T135C:p.Y45Y,ENSG00000170890:ENST00000308366:exon3:c.T222C:p.Y74Y NA NA 12q24.31 NA NA NA NA rs5634 0.08 0.08 0.081 0.0910543 0.0537 0.1151 0.1945 0.0522 0.0838 0.06 0.11 0.15 0.05 0.0755 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.302494 1.302494 NA 0.045581 0.061507 NA 0.065 NA 5.4918856 1103 1 235972867 235972867 T C exonic LYST NA synonymous SNV LYST:NM_000081:exon5:c.A1251G:p.Q417Q exonic ENSG00000143669 NA synonymous SNV ENSG00000143669:ENST00000389793:exon5:c.A1251G:p.Q417Q,ENSG00000143669:ENST00000389794:exon5:c.A1251G:p.Q417Q,ENSG00000143669:ENST00000536965:exon5:c.A1251G:p.Q417Q Score=615;Name=lod=420 NA 1q42.3 NA NA NA NA rs1063128 0.33 0.33 0.319 0.303315 0.4254 0.0655 0.2997 0.4887 0.1748 0.42 0.09 0.31 0.49 0.35 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045346 NA NA 0.399419 0.508852 NA 0.355 NA 5.4918476 1103 1 235945294 235945294 T C exonic LYST NA synonymous SNV LYST:NM_000081:exon15:c.A4956G:p.L1652L exonic ENSG00000143669 NA synonymous SNV ENSG00000143669:ENST00000389793:exon15:c.A4956G:p.L1652L,ENSG00000143669:ENST00000389794:exon15:c.A4956G:p.L1652L NA NA 1q42.3 NA NA Name=33 NA rs6696123 0.33 0.33 0.325 0.303514 0.4254 0.0655 0.2997 0.4879 0.1769 0.42 0.09 0.31 0.49 0.3501 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800792 NA NA 0.399419 0.507717 NA 0.355 NA 5.4917476 1103 20 3624830 3624830 G A exonic ATRN NA synonymous SNV ATRN:NM_139321:exon28:c.G4080A:p.P1360P exonic ENSG00000088812 NA synonymous SNV ENSG00000088812:ENST00000262919:exon28:c.G4080A:p.P1360P NA NA 20p13 Score=871;Name=V$ZID_01 NA NA NA rs2246808 0.36 0.36 0.381 0.382588 0.3917 0.1964 0.3718 0.5855 0.2986 0.38 0.16 0.38 0.55 0.3771 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962464 NA NA 0.406279 0.534952 NA 0.326 NA 5.4915876 1103 2 47278901 47278901 G A exonic TTC7A NA synonymous SNV TTC7A:NM_020458:exon18:c.G2034A:p.S678S exonic ENSG00000068724 NA synonymous SNV ENSG00000068724:ENST00000263737:exon17:c.G972A:p.S324S,ENSG00000068724:ENST00000319190:exon18:c.G2034A:p.S678S,ENSG00000068724:ENST00000394850:exon19:c.G2106A:p.S702S,ENSG00000068724:ENST00000409245:exon19:c.G1932A:p.S644S NA NA 2p21 NA NA NA NA rs3739100 0.19 0.19 0.166 0.183906 0.0378 0.4435 0.1398 0.1566 0.135 0.04 0.48 0.14 0.13 0.1071 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06543 NA NA 0.030469 0.157619 NA 0.13 NA 5.4912976 1103 1 161928327 161928327 A G exonic ATF6 NA synonymous SNV ATF6:NM_007348:exon16:c.A1896G:p.S632S exonic ENSG00000118217 NA synonymous SNV ENSG00000118217:ENST00000367942:exon16:c.A1896G:p.S632S NA NA 1q23.3 NA Name=STAT3 Name=38 NA rs9482 0.6 0.6 0.573 0.558706 0.7763 0.506 0.4928 0.4183 0.6258 0.79 0.51 0.56 0.44 0.654 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.138318 NA NA 0.745116 0.462778 ID=COSM1335717;OCCURENCE=1(large_intestine) 0.63 NA 5.4912506 1103 1 1916890 1916890 C T exonic KIAA1751 NA synonymous SNV KIAA1751:NM_001080484:exon6:c.G435A:p.L145L intergenic ENSG00000142609,ENSG00000142609 dist=18925;dist=2511 NA NA Score=272;Name=lod=17 NA 1p36.33 Score=857;Name=V$HAND1E47_01 NA NA NA rs3795280 0.43 0.43 0.441 0.438498 0.3082 0.4335 0.2795 0.6573 0.3947 0.31 0.46 0.3 0.67 0.3733 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450164 NA NA 0.327524 0.57928 NA 0.507 NA 5.490976 1103 17 37457342 37457342 A G intronic FBXL20 NA NA NA intronic ENSG00000108306 NA NA NA Score=671;Name=lod=710 NA 17q12 Score=729;Name=V$MEF2_04 NA NA NA rs2302073 0.23 0.23 0.207 0.228834 0.162 0.2431 0.2349 0.3767 0.0787 0.16 0.23 0.21 0.35 0.1775 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.171017 4.171017 NA 0.169651 0.363595 NA 0.203 NA 5.490849 1103 1 1266740 1266740 T A exonic TAS1R3 NA synonymous SNV TAS1R3:NM_152228:exon1:c.T15A:p.A5A exonic ENSG00000169962 NA synonymous SNV ENSG00000169962:ENST00000339381:exon1:c.T15A:p.A5A NA NA 1p36.33 NA NA NA NA rs141430443 0.03 0.03 0.03 0.0189696 0.0626 NA 0.0231 0.0053 0.0092 0.07 NA 0.03 0.0041 0.0479 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789246 NA NA 0.065441 0.012984 NA NA NA 5.4907256 1103 7 134871775 134871775 C T exonic WDR91 NA synonymous SNV WDR91:NM_014149:exon14:c.G2028A:p.S676S exonic ENSG00000105875 NA synonymous SNV ENSG00000105875:ENST00000354475:exon14:c.G2028A:p.S676S,ENSG00000105875:ENST00000423565:exon14:c.G1923A:p.S641S NA NA 7q33 NA Name=EBF1_(C-8),CHD2_(N-1250),BATF,Oct-2,SP1,Pol2,IRF4_(M-17),MEF2A,BCL11A,YY1_(C-20),TAF1,POU2F2,TCF12,TBP,BCL3,NFKB,CTCF_(C-20),SRF,PAX5-C20,PAX5-N19,Egr-1,Pol2-4H8,Pbx3,EBF Name=7 NA rs292557 0.72 0.72 0.707 0.712061 0.7068 0.8214 0.8372 0.4962 0.8078 0.72 0.83 0.82 0.53 0.7428 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886625 NA NA 0.726395 0.552882 NA 0.732 NA 5.4906716 1103 14 100847930 100847930 A G exonic WDR25 NA synonymous SNV WDR25:NM_001161476:exon2:c.A669G:p.P223P,WDR25:NM_024515:exon2:c.A669G:p.P223P exonic ENSG00000176473 NA synonymous SNV ENSG00000176473:ENST00000557710:exon1:c.A669G:p.P223P,ENSG00000176473:ENST00000335290:exon2:c.A669G:p.P223P,ENSG00000176473:ENST00000402312:exon2:c.A669G:p.P223P,ENSG00000176473:ENST00000554175:exon2:c.A669G:p.P223P,ENSG00000176473:ENST00000554998:exon2:c.A669G:p.P223P NA NA 14q32.2 Score=814;Name=V$SRF_C NA Name=3 NA rs3742387 0.59 0.59 0.583 0.646166 0.7276 0.4742 0.4597 0.649 0.8681 0.73 0.41 0.48 0.66 0.6973 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022111 NA NA 0.751512 0.655924 NA 0.696 NA 5.4902546 1103 7 99926522 99926522 A G ncRNA_exonic PMS2P1 NA NA NA ncRNA_intronic ENSG00000078319 NA NA NA Score=618;Name=lod=433 NA 7q22.1 NA NA NA NA rs1059129 0.15 0.15 0.126 0.157947 0.1769 0.0278 0.1153 0.3011 0.1094 0.18 0.02 0.11 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43415 NA NA NA NA NA 0.022 NA 5.4897666 1103 15 51237910 51237910 T C ncRNA_exonic DCAF13P3 NA NA NA ncRNA_exonic ENSG00000259378 NA NA NA Score=677;Name=lod=750 NA 15q21.2 NA NA NA NA rs11635054 0.14 0.14 0.109 0.156749 0.1769 0.0188 0.2666 0.1634 0.1912 0.16 0.02 0.26 0.14 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918378 NA NA NA NA NA 0.181 NA 5.4897666 1103 19 22784069 22784069 G A ncRNA_intronic LOC440518 NA NA NA ncRNA_exonic ENSG00000269332 NA NA NA Score=578;Name=lod=298 NA 19p12 NA NA NA NA rs34043019 0.36 0.36 0.337 0.380591 0.1779 0.2927 0.3847 0.6747 0.2791 0.18 0.29 0.36 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000069 NA NA NA NA NA 0.42 NA 5.4887666 1103 17 48557326 48557326 G A exonic RSAD1 NA nonsynonymous SNV RSAD1:NM_018346:exon3:c.G355A:p.A119T exonic ENSG00000136444 NA nonsynonymous SNV ENSG00000136444:ENST00000258955:exon3:c.G355A:p.A119T NA NA 17q21.33 NA NA NA NA rs2290862 0.58 0.58 0.623 0.584465 0.6262 0.2222 0.5807 0.9115 0.4755 0.62 0.22 0.65 0.91 0.592 0.91 0.45 T 0.0 B 0.003 B 0.472 N 1.000 P -0.515 N 1.96 T -1.028 T 0.000 T 0.024 1.074 9.385 0.020 -0.048 0.282 6.933 1.074063 NA 0.4 0.626628 0.868134 NA 0.58 NA 5.4885054 1103 19 36831372 36831372 A G exonic ZFP14 NA synonymous SNV ZFP14:NM_020917:exon5:c.T1356C:p.Y452Y exonic ENSG00000142065 NA synonymous SNV ENSG00000142065:ENST00000270001:exon5:c.T1356C:p.Y452Y NA NA 19q13.12 NA NA NA NA rs8110644 0.03 0.03 0.02 0.019369 0.0577 NA 0.0274 0.0061 0.0123 0.05 NA 0.03 0.01 0.0486 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150569 NA NA 0.071977 0.019065 NA 0.007 NA 5.4883896 1103 8 12406714 12406714 T G ncRNA_intronic LOC100506990,LOC729732 NA NA NA intergenic ENSG00000221714,ENSG00000242607 dist=22364;dist=21145 NA NA Score=517;Name=lod=168 NA 8p23.1 NA Name=GATA-1 NA NA rs2970290 NA NA 0.334 0.534345 0.5119 0.5496 0.5115 0.5651 0.5164 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254788 NA NA NA NA NA 0.029 NA 5.4881 1103 5 58147223 58147223 C A UTR3 RAB3C NM_138453:c.*45C>A NA NA ncRNA_UTR3 ENSG00000152932 NA NA NA Score=358;Name=lod=38 NA 5q11.2 NA NA NA NA rs189904682 0.0023 0.0023 NA 0.00179712 0.007 NA 0.0029 NA NA 0.004 NA 0.01 NA 0.0024 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.351093 2.351093 NA 0.002791 0.000454 NA NA NA 5.487809 1103 15 31110279 31110279 G A ncRNA_exonic HERC2P10 NA NA NA ncRNA_exonic ENSG00000259845 NA NA NA Score=688;Name=lod=832 NA 15q13.2 NA NA NA NA rs798112 0.23 0.23 0.221 0.334465 0.1789 0.1647 0.3127 0.6891 0.2055 0.13 0.09 0.28 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450815 NA NA NA NA NA 0.174 NA 5.4877666 1103 4 80905991 80905991 G T exonic ANTXR2 NA synonymous SNV ANTXR2:NM_001145794:exon13:c.C1068A:p.P356P,ANTXR2:NM_058172:exon13:c.C1068A:p.P356P exonic ENSG00000163297 NA synonymous SNV ENSG00000163297:ENST00000346652:exon9:c.C759A:p.P253P,ENSG00000163297:ENST00000307333:exon13:c.C1068A:p.P356P,ENSG00000163297:ENST00000403729:exon13:c.C1068A:p.P356P,ENSG00000163297:ENST00000404191:exon13:c.C837A:p.P279P NA NA 4q21.21 NA NA NA NA rs72653288 0.03 0.03 NA 0.0461262 0.0915 0.0109 0.0519 0.0242 0.0613 0.06 0.01 0.05 0.01 0.0875 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.055255 NA NA NA NA NA NA NA 5.4876666 1103 20 256727 256727 T A exonic C20orf96 NA nonsynonymous SNV C20orf96:NM_080571:exon10:c.A910T:p.I304F,C20orf96:NM_153269:exon10:c.A913T:p.I305F exonic ENSG00000196476 NA nonsynonymous SNV ENSG00000196476:ENST00000382369:exon8:c.A808T:p.I270F,ENSG00000196476:ENST00000360321:exon10:c.A913T:p.I305F NA NA 20p13 NA NA NA NA rs3827147 0.66 0.66 0.669 0.635184 0.6262 0.6935 0.4942 0.7383 0.545 0.64 0.7 0.5 0.74 0.6024 0.74 0.35 T 0.0 B 0.0 B 0.869 N 0.298 P -1.355 N 1.1 T -0.989 T 0.000 T 0.042 -0.69 1.003 -1.09 -0.364 0.171 3.58 -0.690171 NA 0.85 0.617442 0.726736 NA 0.659 NA 5.4872914 1103 4 184600571 184600571 C A exonic TRAPPC11 NA synonymous SNV TRAPPC11:NM_021942:exon9:c.C897A:p.I299I,TRAPPC11:NM_199053:exon9:c.C897A:p.I299I exonic ENSG00000168538 NA synonymous SNV ENSG00000168538:ENST00000334690:exon9:c.C897A:p.I299I,ENSG00000168538:ENST00000357207:exon9:c.C897A:p.I299I NA NA 4q35.1 NA NA NA NA rs62357990 0.06 0.06 0.061 0.061901 0.0537 0.1319 0.0389 0.056 0.0225 0.05 0.1 0.04 0.04 0.0592 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86366 NA NA 0.066628 0.052655 NA 0.029 NA 5.4871386 1103 5 177642177 177642177 C T intronic AGXT2L2 NA NA NA intronic ENSG00000175309 NA NA NA NA NA 5q35.3 NA Name=Pol2-4H8 Name=2 NA rs2913748 0.54 0.54 0.542 0.562101 0.5129 0.4633 0.5994 0.621 0.6084 0.52 0.45 0.6 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042718 NA NA NA NA NA 0.529 NA 5.4871 1103 13 24696470 24696470 G T intergenic ANKRD20A19P,SPATA13 dist=173016;dist=38391 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=704;Name=lod=972 NA 13q12.12 NA Name=c-Fos NA NA rs4770591 0.51 0.51 0.474 0.504992 0.5129 0.5446 0.5663 0.3888 0.5695 0.53 0.55 0.56 0.39 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389681 NA NA NA NA NA 0.5 NA 5.4871 1103 13 24696492 24696492 A G intergenic ANKRD20A19P,SPATA13 dist=173038;dist=38369 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=704;Name=lod=972 NA 13q12.12 NA Name=c-Fos NA NA rs4769323 0.51 0.51 0.457 0.505391 0.5129 0.5446 0.5677 0.3896 0.5695 0.53 0.55 0.56 0.39 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864201 NA NA NA NA NA 0.5 NA 5.4871 1103 5 148206348 148206348 C T UTR5 ADRB2 NM_000024:c.-47C>T NA NA UTR5 ENSG00000169252 ENST00000305988:c.-47C>T NA NA Score=352;Name=lod=36 NA 5q32 NA Name=NFKB,Pol2(b),Pol2 Name=10 NA rs1042711 0.76 0.76 0.71 0.793131 0.5885 0.9196 0.7579 0.8608 0.8067 0.59 0.92 0.73 0.84 0.6812 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769843 NA NA 0.576842 0.810234 NA 0.507 NA 5.4867914 1103 7 1480286 1480286 G A exonic MICALL2 NA synonymous SNV MICALL2:NM_182924:exon8:c.C1746T:p.D582D exonic ENSG00000164877 NA synonymous SNV ENSG00000164877:ENST00000405088:exon4:c.C1110T:p.D370D,ENSG00000164877:ENST00000413446:exon7:c.C1620T:p.D540D,ENSG00000164877:ENST00000297508:exon8:c.C1746T:p.D582D NA NA 7p22.3 NA NA NA NA rs61741872 0.1 0.1 0.098 0.0858626 0.0507 0.0298 0.2104 0.1392 0.0194 0.06 0.05 0.19 0.15 0.0767 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252555 NA NA 0.052478 0.131985 NA 0.123 NA 5.4867886 1103 19 22786126 22786126 T A ncRNA_exonic LOC440518 NA NA NA ncRNA_exonic ENSG00000268823,ENSG00000269332 NA NA NA Score=554;Name=lod=239 NA 19p12 NA NA NA NA rs2304143 0.36 0.36 0.371 0.384984 0.1799 0.3214 0.3905 0.6619 0.2832 0.18 0.31 0.36 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46552 NA 0.01 NA NA NA 0.42 NA 5.4867666 1103 22 24938908 24938908 A G UTR3 GUCD1 NM_031444:c.*66T>C NA NA UTR3 ENSG00000138867 ENST00000435822:c.*66T>C,ENST00000407471:c.*66T>C,ENST00000398245:c.*66T>C,ENST00000404664:c.*66T>C,ENST00000447813:c.*133T>C,ENST00000402766:c.*133T>C NA NA NA NA 22q11.23 NA Name=CTCF,p300,ERalpha_a Name=11 NA rs8139822 0.75 0.75 0.732 0.68131 0.8469 0.8492 0.7925 0.4266 0.6033 0.86 0.83 0.79 0.47 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.304644 2.304644 NA NA NA NA 0.268 NA 5.4864334 1103 17 39727816 39727816 T G exonic KRT9 NA synonymous SNV KRT9:NM_000226:exon1:c.A429C:p.G143G exonic ENSG00000171403 NA synonymous SNV ENSG00000171403:ENST00000246662:exon1:c.A429C:p.G143G NA NA 17q21.2 NA NA NA NA rs8075921 0.64 0.64 0.557 NA NA NA NA NA NA 0.56 0.95 0.66 0.38 0.6325 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.680222 NA NA 0.548395 0.41035 NA 0.609 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056452.1;CLNDSDB=.;CLNDSDBID=. 5.4857716 1103 19 14574959 14574959 G A exonic PKN1 NA synonymous SNV PKN1:NM_002741:exon12:c.G1725A:p.S575S,PKN1:NM_213560:exon12:c.G1743A:p.S581S exonic ENSG00000123143 NA synonymous SNV ENSG00000123143:ENST00000586237:exon2:c.G183A:p.S61S,ENSG00000123143:ENST00000242783:exon12:c.G1725A:p.S575S,ENSG00000123143:ENST00000342216:exon12:c.G1743A:p.S581S NA NA 19p13.12 NA NA NA NA rs2230538 0.06 0.06 0.055 0.0597045 0.0636 0.0317 0.1182 0.0582 0.045 0.05 0.03 0.11 0.05 0.0621 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78225 NA NA 0.055315 0.060284 NA 0.08 NA 5.4856516 1103 8 144995736 144995736 G A exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.C8211T:p.N2737N,PLEC:NM_201379:exon32:c.C8187T:p.N2729N,PLEC:NM_201380:exon32:c.C8664T:p.N2888N,PLEC:NM_201381:exon32:c.C8157T:p.N2719N,PLEC:NM_201382:exon32:c.C8253T:p.N2751N,PLEC:NM_201383:exon32:c.C8265T:p.N2755N,PLEC:NM_201384:exon32:c.C8253T:p.N2751N,PLEC:NM_000445:exon33:c.C8334T:p.N2778N exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.C8664T:p.N2888N,ENSG00000178209:ENST00000345136:exon32:c.C8253T:p.N2751N,ENSG00000178209:ENST00000354589:exon32:c.C8253T:p.N2751N,ENSG00000178209:ENST00000354958:exon32:c.C8187T:p.N2729N,ENSG00000178209:ENST00000356346:exon32:c.C8211T:p.N2737N,ENSG00000178209:ENST00000357649:exon32:c.C8265T:p.N2755N,ENSG00000178209:ENST00000398774:exon32:c.C8157T:p.N2719N,ENSG00000178209:ENST00000527096:exon32:c.C8322T:p.N2774N,ENSG00000178209:ENST00000436759:exon33:c.C8334T:p.N2778N NA NA 8q24.3 NA NA NA NA rs11777402 0.25 0.25 0.219 0.230232 0.4284 0.1419 0.2968 0.0272 0.3446 0.42 0.16 0.3 0.03 0.3446 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.551748 NA NA 0.408168 0.087994 NA 0.254 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078899.3;CLNDSDB=.;CLNDSDBID=. 5.4854986 1103 1 179555947 179555947 G C intergenic NPHS2,TDRD5 dist=10863;dist=4801 NA NA ncRNA_exonic ENSG00000227141 NA NA NA Score=764;Name=lod=1703 NA 1q25.2 NA NA Name=14 NA rs4475708 0.56 0.56 0.515 0.567891 0.5149 0.7619 0.5418 0.4244 0.635 0.51 0.79 0.52 0.41 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011895 NA NA NA NA NA 0.232 NA 5.4851 1104 19 35940721 35940721 G C exonic FFAR2 NA synonymous SNV FFAR2:NM_005306:exon1:c.G105C:p.R35R exonic ENSG00000126262 NA synonymous SNV ENSG00000126262:ENST00000246549:exon1:c.G105C:p.R35R,ENSG00000126262:ENST00000599180:exon2:c.G105C:p.R35R NA NA 19q13.12 NA NA NA NA rs117215242 0.03 0.03 0.025 0.0291534 0.0626 0.002 0.062 0.0038 0.0337 0.06 NA 0.07 0.0041 0.0515 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352338 NA NA 0.067907 0.008398 NA 0.072 NA 5.4846596 1104 11 18956194 18956194 T C exonic MRGPRX1 NA synonymous SNV MRGPRX1:NM_147199:exon1:c.A138G:p.A46A exonic ENSG00000170255 NA synonymous SNV ENSG00000170255:ENST00000302797:exon1:c.A138G:p.A46A NA NA 11p15.1 NA NA Name=4 NA rs2014931 0.35 0.35 0.315 0.363219 0.4026 0.3075 0.3588 0.3442 0.409 0.4 0.3 0.33 0.34 0.3901 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308275 NA NA 0.389666 0.337511 ID=COSM1353107;OCCURENCE=1(large_intestine) 0.42 NA 5.4843006 1104 7 30485710 30485710 A C intronic NOD1 NA NA NA intronic ENSG00000106100 NA NA NA NA NA 7p14.3 NA Name=IRF4_(M-17),MEF2A,YY1_(C-20),SMC3_(ab9263),WHIP,CTCF,Rad21,Max,IRF1,CTCF_(C-20),ZEB1_(SC-25388),NFKB,STAT2,c-Myc Name=101 NA rs6958571 0.23 0.23 0.051 0.234225 0.2376 0.2212 0.2997 0.2277 0.2065 0.21 0.24 0.27 0.21 0.247 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585613 NA NA 0.031163 0.12256 ID=COSN168000;OCCURENCE=1(large_intestine) 0.058 NA 5.484237 1104 1 11561593 11561593 G A exonic PTCHD2 NA nonsynonymous SNV PTCHD2:NM_020780:exon2:c.G544A:p.G182S exonic ENSG00000204624 NA nonsynonymous SNV ENSG00000204624:ENST00000294484:exon2:c.G544A:p.G182S,ENSG00000204624:ENST00000389575:exon2:c.G544A:p.G182S NA NA 1p36.22 NA NA NA NA rs2817580 0.43 0.43 0.404 0.371805 0.659 0.2718 0.6311 0.143 0.3047 0.66 0.27 0.6 0.14 0.5561 0.66 0.62 T 0.008 B 0.011 B . . 1.000 P 0.345 N 1.99 T -0.987 T 0.000 T 0.063 -0.018 3.922 0.794 0.058 0.106 6.431 -0.017933 NA 0.23 0.634152 0.251836 NA 0.384 NA 5.4840814 1104 5 148206375 148206375 C T UTR5 ADRB2 NM_000024:c.-20C>T NA NA UTR5 ENSG00000169252 ENST00000305988:c.-20C>T NA NA Score=378;Name=lod=46 NA 5q32 NA Name=Pol2 Name=10 NA rs1801704 0.76 0.76 0.728 0.793131 0.5875 0.9196 0.7579 0.8616 0.8067 0.59 0.92 0.73 0.84 0.6821 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47281 1.47281 NA 0.57967 0.81616 NA 0.536 NA 5.4840634 1104 3 193068800 193068800 G A intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 NA Name=SRF Name=2 NA rs1038719 0.53 0.53 0.546 0.513978 0.5169 0.3968 0.5202 0.6573 0.4335 0.52 0.43 0.56 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277467 NA NA NA NA NA 0.558 NA 5.4831 1104 11 86270684 86270684 C T intronic ME3 NA NA NA ncRNA_intronic ENSG00000254733 NA NA NA NA NA 11q14.2 NA Name=GR,AP-2gamma Name=117 NA rs34249558 0.16 0.16 0.165 0.149161 0.2873 0.0506 0.196 0.0439 0.2178 0.3 0.05 0.22 0.05 0.2488 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.308692 1.308692 NA 0.314143 0.095368 NA 0.297 NA 5.4830903 1104 19 36278470 36278470 C G exonic ARHGAP33 NA synonymous SNV ARHGAP33:NM_052948:exon21:c.C2520G:p.A840A exonic ENSG00000004777 NA synonymous SNV ENSG00000004777:ENST00000007510:exon21:c.C3003G:p.A1001A,ENSG00000004777:ENST00000314737:exon21:c.C2520G:p.A840A Score=278;Name=lod=18 NA 19q13.12 NA NA NA NA rs231235 0.54 0.54 0.509 0.534744 0.3688 0.627 0.5879 0.6551 0.41 0.37 0.63 0.56 0.68 0.4522 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.262828 NA NA 0.362582 0.604205 NA 0.464 NA 5.4830846 1104 14 88414211 88414211 G A exonic GALC NA synonymous SNV GALC:NM_001201401:exon12:c.C1281T:p.S427S,GALC:NM_000153:exon13:c.C1350T:p.S450S,GALC:NM_001201402:exon13:c.C1272T:p.S424S exonic ENSG00000054983 NA synonymous SNV ENSG00000054983:ENST00000555000:exon8:c.C717T:p.S239S,ENSG00000054983:ENST00000393568:exon12:c.C1281T:p.S427S,ENSG00000054983:ENST00000261304:exon13:c.C1350T:p.S450S,ENSG00000054983:ENST00000393569:exon13:c.C1272T:p.S424S,ENSG00000054983:ENST00000544807:exon13:c.C1182T:p.S394S NA NA 14q31.3 NA NA NA NA rs398076 0.35 0.35 0.343 0.366613 0.4105 0.2302 0.33 0.4387 0.3906 0.4 0.22 0.35 0.43 0.3734 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043868 NA NA 0.399833 0.425558 NA 0.297 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078191.1;CLNDSDB=.;CLNDSDBID=. 5.4829336 1104 12 88470954 88470954 C G intronic CEP290 NA NA NA intronic ENSG00000198707 NA NA NA NA NA 12q21.32 NA Name=MafK_(ab50322) NA NA rs45477793 0.08 0.08 0.096 0.0676917 0.1998 0.001 0.0937 0.0227 0.0429 0.19 0.0017 0.09 0.01 0.1291 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.213647 NA NA 0.188266 0.04954 NA 0.051 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114205.2;CLNDSDB=.;CLNDSDBID=. 5.482834 1104 2 32983526 32983526 C T exonic TTC27 NA synonymous SNV TTC27:NM_001193509:exon13:c.C1470T:p.N490N,TTC27:NM_017735:exon13:c.C1620T:p.N540N exonic ENSG00000018699 NA synonymous SNV ENSG00000018699:ENST00000317907:exon13:c.C1620T:p.N540N Score=556;Name=lod=242 NA 2p22.3 NA NA NA NA rs2273665 0.34 0.34 0.323 0.292931 0.4125 0.3671 0.3718 0.1536 0.226 0.43 0.35 0.4 0.14 0.3617 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276189 1.276189 NA 0.410233 0.209487 ID=COSM148836;OCCURENCE=1(stomach) 0.261 NA 5.4822336 1104 10 90585819 90585819 G A exonic ANKRD22 NA synonymous SNV ANKRD22:NM_144590:exon4:c.C375T:p.G125G exonic ENSG00000152766 NA synonymous SNV ENSG00000152766:ENST00000371930:exon4:c.C375T:p.G125G NA NA 10q23.31 Score=767;Name=V$HTF_01 NA NA NA rs7893917 0.35 0.35 0.352 0.341254 0.4115 0.4365 0.3458 0.1619 0.41 0.41 0.43 0.36 0.17 0.3867 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697665 NA NA 0.386512 0.214253 NA 0.377 NA 5.4819546 1104 8 110592108 110592108 G A exonic SYBU NA synonymous SNV SYBU:NM_001099746:exon4:c.C297T:p.I99I,SYBU:NM_001099749:exon4:c.C297T:p.I99I,SYBU:NM_001099755:exon4:c.C297T:p.I99I,SYBU:NM_001099756:exon4:c.C645T:p.I215I,SYBU:NM_001099753:exon5:c.C651T:p.I217I,SYBU:NM_001099754:exon5:c.C654T:p.I218I,SYBU:NM_001099743:exon6:c.C651T:p.I217I,SYBU:NM_001099744:exon6:c.C654T:p.I218I,SYBU:NM_001099745:exon6:c.C654T:p.I218I,SYBU:NM_001099747:exon6:c.C651T:p.I217I,SYBU:NM_001099748:exon6:c.C654T:p.I218I,SYBU:NM_001099751:exon6:c.C651T:p.I217I,SYBU:NM_001099752:exon6:c.C654T:p.I218I,SYBU:NM_001099750:exon7:c.C654T:p.I218I,SYBU:NM_017786:exon7:c.C651T:p.I217I exonic ENSG00000147642 NA synonymous SNV ENSG00000147642:ENST00000529175:exon1:c.C36T:p.I12I,ENSG00000147642:ENST00000529690:exon3:c.C264T:p.I88I,ENSG00000147642:ENST00000533394:exon3:c.C165T:p.I55I,ENSG00000147642:ENST00000399066:exon4:c.C645T:p.I215I,ENSG00000147642:ENST00000408889:exon4:c.C297T:p.I99I,ENSG00000147642:ENST00000528045:exon4:c.C297T:p.I99I,ENSG00000147642:ENST00000528331:exon4:c.C297T:p.I99I,ENSG00000147642:ENST00000532779:exon4:c.C450T:p.I150I,ENSG00000147642:ENST00000533065:exon4:c.C297T:p.I99I,ENSG00000147642:ENST00000276646:exon5:c.C654T:p.I218I,ENSG00000147642:ENST00000408908:exon6:c.C654T:p.I218I,ENSG00000147642:ENST00000419099:exon6:c.C651T:p.I217I,ENSG00000147642:ENST00000422135:exon6:c.C654T:p.I218I,ENSG00000147642:ENST00000440310:exon6:c.C654T:p.I218I,ENSG00000147642:ENST00000446070:exon6:c.C651T:p.I217I,ENSG00000147642:ENST00000528647:exon6:c.C651T:p.I217I,ENSG00000147642:ENST00000533171:exon6:c.C654T:p.I218I,ENSG00000147642:ENST00000424158:exon7:c.C669T:p.I223I,ENSG00000147642:ENST00000433638:exon7:c.C654T:p.I218I,ENSG00000147642:ENST00000533895:exon7:c.C651T:p.I217I NA NA 8q23.2 NA NA NA NA rs10085994 0.03 0.03 0.023 0.0205671 0.0706 NA 0.0389 0.0008 0.0041 0.06 NA 0.05 NA 0.0444 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595484 NA NA 0.069828 0.015211 NA 0.029 NA 5.4818386 1104 7 64023371 64023371 T C UTR5 ZNF680 NM_178558:c.-39A>G,NM_001130022:c.-39A>G NA NA UTR5 ENSG00000173041 ENST00000309683:c.-39A>G,ENST00000447137:c.-39A>G NA NA NA NA 7q11.21 NA Name=CHD2_(N-1250),ELF1_(SC-631),TCF4,Pol2(phosphoS2),SP1,Pol2,E2F4,TAF1,IRF1,TBP,NFKB,HEY1,Pol2-4H8,ZNF263,Sin3Ak-20 Name=146 NA rs6969879 0.37 0.37 0.328 0.368011 0.2744 0.4554 0.3631 0.3449 0.409 0.29 0.49 0.35 0.35 0.313 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077148 NA NA 0.264419 0.353836 NA 0.326 NA 5.4815144 1104 12 11338957 11338957 A G exonic TAS2R42 NA nonsynonymous SNV TAS2R42:NM_181429:exon1:c.T587C:p.F196S exonic ENSG00000186136 NA nonsynonymous SNV ENSG00000186136:ENST00000334266:exon1:c.T587C:p.F196S NA NA 12p13.2 NA NA NA NA rs5020531 0.57 0.57 0.505 0.540735 0.6521 0.7569 0.6167 0.1596 0.6646 0.65 0.74 0.64 0.18 0.6022 0.74 1 T 0.0 B 0.0 B 0.077 N 1.000 P -1.735 N 1.23 T -0.957 T 0.000 T 0.063 -2.057 0.006 1.59 0.019 -0.141 7.404 -2.057232 NA 1 0.597859 0.219035 NA 0.442 NA 5.4811744 1104 20 36231517 36231517 G C intergenic BLCAP,LINC00489 dist=75184;dist=16183 NA NA ncRNA_exonic ENSG00000228234 NA NA NA Score=304;Name=lod=23 NA 20q11.23 NA NA Name=2 NA rs6066990 0.53 0.53 0.516 0.49361 0.5189 0.6151 0.5749 0.4667 0.3211 0.53 0.64 0.54 0.41 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863329 NA NA NA NA NA 0.522 NA 5.4811 1104 1 110709734 110709734 G A exonic SLC6A17 NA synonymous SNV SLC6A17:NM_001010898:exon2:c.G183A:p.P61P exonic ENSG00000197106 NA synonymous SNV ENSG00000197106:ENST00000331565:exon2:c.G183A:p.P61P NA NA 1p13.3 NA NA NA NA rs41281364 0.05 0.05 0.058 0.0389377 0.0606 NA 0.0548 0.0598 0.0174 0.06 NA 0.08 0.09 0.0536 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250486 1.250486 NA 0.071512 0.049705 NA 0.029 NA 5.4809546 1104 11 62751911 62751911 C A exonic SLC22A6 NA synonymous SNV SLC22A6:NM_004790:exon1:c.G252T:p.P84P,SLC22A6:NM_153276:exon1:c.G252T:p.P84P,SLC22A6:NM_153277:exon1:c.G252T:p.P84P,SLC22A6:NM_153278:exon1:c.G252T:p.P84P exonic ENSG00000197901 NA synonymous SNV ENSG00000197901:ENST00000360421:exon1:c.G252T:p.P84P,ENSG00000197901:ENST00000377871:exon1:c.G252T:p.P84P,ENSG00000197901:ENST00000421062:exon1:c.G252T:p.P84P,ENSG00000197901:ENST00000458333:exon1:c.G252T:p.P84P,ENSG00000197901:ENST00000540654:exon1:c.G252T:p.P84P NA NA 11q12.3 NA NA NA NA rs11568628 0.04 0.04 0.038 0.0229633 0.0676 0.005 0.0303 0.0061 0.0133 0.07 0.01 0.04 0.01 0.0495 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.046594 NA NA 0.068753 0.015902 NA 0.087 NA 5.4808136 1104 20 33572979 33572979 C T intronic MYH7B NA NA NA intronic ENSG00000078814 NA NA NA NA NA 20q11.22 NA Name=CTCF Name=11 NA rs3746448 0.14 0.14 0.149 0.135184 0.1759 0.1438 0.111 0.0318 0.2413 0.18 0.17 0.12 0.04 0.1696 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014036 NA NA 0.173716 0.063387 NA 0.225 NA 5.480784 1104 20 44596545 44596545 G A exonic ZNF335 NA synonymous SNV ZNF335:NM_022095:exon5:c.C642T:p.S214S exonic ENSG00000198026 NA synonymous SNV ENSG00000198026:ENST00000426788:exon2:c.C177T:p.S59S,ENSG00000198026:ENST00000322927:exon5:c.C642T:p.S214S NA NA 20q13.12 NA NA NA NA rs3848719 0.22 0.22 0.215 0.185703 0.4254 NA 0.3084 0.0749 0.1933 0.43 NA 0.34 0.07 0.3313 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468527 NA NA 0.429751 0.146391 ID=COSM443920;OCCURENCE=1(breast) 0.312 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118924.2;CLNDSDB=.;CLNDSDBID=. 5.4802156 1104 3 8543601 8543601 G A UTR5 LMCD1 NM_014583:c.-24G>A NA NA ncRNA_UTR5 ENSG00000071282 NA NA NA NA NA 3p26.1 NA Name=TAF1,E2F6_(H-50),HA-E2F1,ZNF263,E2F6,Pol2,PAX5-C20,SETDB1,Max,Nrf1 NA NA rs74997575 0.0018 0.0018 0.001 0.00119808 0.005 NA NA NA 0.001 0.01 NA NA NA 0.0061 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.655654 3.655654 NA 0.008721 0.002951 NA NA NA 5.480179 1104 8 22422150 22422150 A G intronic SORBS3 NA NA NA intronic ENSG00000120896 NA NA NA NA NA 8p21.3 NA Name=FOXA1_(C-20),CTCF,Max,NRSF Name=18 NA rs3758038 0.38 0.38 0.369 0.369209 0.5199 0.2173 0.366 0.3018 0.4642 0.52 0.22 0.41 0.32 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455904 NA NA NA NA NA 0.428 NA 5.4801 1104 6 29695808 29695808 A G ncRNA_intronic HLA-F-AS1 NA NA NA ncRNA_intronic ENSG00000214922 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs55672647 0.06 0.06 0.046 0.0756789 0.0586 0.1567 0.0375 0.0008 0.138 0.06 0.14 0.03 0.002 0.0695 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927788 NA NA 0.058513 0.014269 NA 0.087 NA 5.4800536 1104 15 23052632 23052632 T C exonic NIPA1 NA synonymous SNV NIPA1:NM_001142275:exon4:c.A216G:p.T72T,NIPA1:NM_144599:exon4:c.A441G:p.T147T exonic ENSG00000170113 NA synonymous SNV ENSG00000170113:ENST00000337435:exon4:c.A441G:p.T147T,ENSG00000170113:ENST00000437912:exon4:c.A216G:p.T72T,ENSG00000170113:ENST00000561183:exon4:c.A216G:p.T72T NA NA 15q11.2 Score=871;Name=V$PAX3_01 NA NA NA rs11263683 0.7 0.7 0.64 0.704073 0.7157 0.8026 0.8098 0.4478 0.862 0.71 0.81 0.79 0.47 0.7359 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074633 NA NA 0.735233 0.494553 NA 0.725 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117820.2;CLNDSDB=.;CLNDSDBID=. 5.4798336 1104 7 1480280 1480280 C T exonic MICALL2 NA synonymous SNV MICALL2:NM_182924:exon8:c.G1752A:p.P584P exonic ENSG00000164877 NA synonymous SNV ENSG00000164877:ENST00000405088:exon4:c.G1116A:p.P372P,ENSG00000164877:ENST00000413446:exon7:c.G1626A:p.P542P,ENSG00000164877:ENST00000297508:exon8:c.G1752A:p.P584P NA NA 7p22.3 NA NA NA NA rs58636013 0.1 0.1 0.106 0.0976438 0.0507 0.0298 0.2176 0.18 0.0194 0.06 0.05 0.2 0.18 0.0816 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037475 NA NA 0.054573 0.174693 NA 0.145 NA 5.4797936 1104 22 32887150 32887150 C T exonic FBXO7 NA synonymous SNV FBXO7:NM_001033024:exon6:c.C712T:p.L238L,FBXO7:NM_001257990:exon6:c.C607T:p.L203L,FBXO7:NM_012179:exon6:c.C949T:p.L317L exonic ENSG00000100225 NA synonymous SNV ENSG00000100225:ENST00000266087:exon6:c.C949T:p.L317L,ENSG00000100225:ENST00000382058:exon6:c.C712T:p.L238L,ENSG00000100225:ENST00000397426:exon6:c.C607T:p.L203L Score=590;Name=lod=333 NA 22q12.3 NA NA NA NA rs9726 0.49 0.49 0.479 0.48762 0.3748 0.6925 0.5663 0.4039 0.4499 0.39 0.69 0.53 0.37 0.44 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972695 NA NA 0.372209 0.37222 ID=COSM149284;OCCURENCE=1(stomach) 0.435 NA 5.4796576 1104 14 106845417 106845417 C T intergenic LINC00226,LINC00221 dist=100451;dist=93038 NA NA exonic ENSG00000211957 NA nonsynonymous SNV ENSG00000211957:ENST00000390617:exon2:c.G257A:p.R86Q Score=369;Name=lod=42 NA 14q32.33 NA NA NA NA rs112759551 0.12 0.12 0.098 0.147764 0.1183 0.0288 0.1671 0.2118 0.2004 0.11 0.03 0.17 0.2 0.1278 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.165618 NA 0.01 0.10786 0.178771 ID=COSN229344;OCCURENCE=1(skin) 0.203 NA 5.4793734 1104 X 322161 322161 A G exonic PPP2R3B NA synonymous SNV PPP2R3B:NM_013239:exon2:c.T489C:p.D163D exonic ENSG00000167393 NA synonymous SNV ENSG00000167393:ENST00000381625:exon2:c.T405C:p.D135D,ENSG00000167393:ENST00000390665:exon2:c.T489C:p.D163D Score=610;Name=lod=401 NA Xp22.33 NA NA NA NA rs3813594 0.62 0.62 0.57949 NA NA NA NA NA NA 0.62 0.55 0.62 0.67 0.592 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861388 NA NA 0.595328 0.683379 NA 0.696 NA 5.4793386 1104 2 132796355 132796355 C T intergenic C2orf27B,ANKRD30BL dist=237121;dist=108809 NA NA upstream ENSG00000226886 NA NA NA NA NA 2q21.2 NA Name=SUZ12,Egr-1 Name=9 NA rs377611223 NA NA NA 0.00658946 0.0209 NA 0.0029 NA 0.0102 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.632745 1.632745 NA NA NA NA 0.007 NA 5.4791 1104 1 212799949 212799949 C T exonic FAM71A NA nonsynonymous SNV FAM71A:NM_153606:exon1:c.C1730T:p.T577M exonic ENSG00000162771 NA nonsynonymous SNV ENSG00000162771:ENST00000294829:exon1:c.C1730T:p.T577M NA NA 1q32.3 NA NA NA NA rs3795842 0.47 0.47 0.465 0.485024 0.6451 0.4514 0.3156 0.3359 0.6769 0.66 0.37 0.4 0.34 0.5754 0.66 0.44 T 0.0 B 0.0 B . . 1.000 P -1.1 N 3.88 T -1.091 T 0.000 T 0.033 0.879 8.564 1.7 0.057 0.072 3.795 0.878561 NA 0.67 0.63407 0.39015 NA 0.384 NA 5.4787634 1104 4 187629770 187629770 A C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.T1212G:p.S404R exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.T1212G:p.S404R,ENSG00000083857:ENST00000509647:exon2:c.T1212G:p.S404R NA NA 4q35.2 NA NA NA NA rs3733414 0.43 0.43 0.395 0.398962 0.6441 0.2242 0.5677 0.2073 0.4663 0.65 0.22 0.59 0.24 0.5576 0.65 0.43 T 0.134 B 0.032 B 0.001 N 1.000 P 0.865 L 0.07 T -0.899 T 0.000 T 0.399 0.533 6.886 1.45 0.115 0.621 9.222 0.533021 NA 0.24 0.652907 0.30172 NA 0.384 NA 5.4787264 1104 16 89628870 89628870 C G intronic RPL13 NA NA NA intronic ENSG00000167526 NA NA NA NA NA 16q24.3 NA Name=Pol2,Sin3Ak-20,c-Myc Name=62 NA rs885268 0.15 0.15 NA 0.148363 0.161 0.128 0.1196 0.171 0.1462 0.16 0.13 0.13 0.18 0.1765 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528475 NA NA 0.183847 0.186416 NA 0.116 NA 5.478653 1104 21 37502950 37502950 G T intergenic LOC100133286,CBR3-AS1 dist=4012;dist=1115 NA NA ncRNA_exonic ENSG00000226054 NA NA NA Score=786;Name=lod=2092 NA 21q22.12 NA Name=ZNF263 NA NA rs2242801 0.44 0.44 0.429 0.399561 0.5219 0.4385 0.5274 0.2678 0.3211 0.53 0.44 0.5 0.28 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299704 NA NA NA NA NA 0.457 NA 5.4781 1104 19 12061271 12061271 C T UTR3 ZNF700 NM_144566:c.*203C>T,NM_001271848:c.*203C>T NA NA ncRNA_UTR3 ENSG00000196757,ENSG00000267179 NA NA NA NA NA 19p13.2 NA Name=SETDB1 NA NA rs77673544 0.01 0.01 0.009 0.0139776 0.0229 0.0089 0.0144 0.003 0.0245 0.02 0.01 0.02 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702124 NA NA NA NA NA NA NA 5.4771 1104 19 12061272 12061272 G A UTR3 ZNF700 NM_144566:c.*204G>A,NM_001271848:c.*204G>A NA NA ncRNA_UTR3 ENSG00000196757,ENSG00000267179 NA NA NA NA NA 19p13.2 NA Name=SETDB1 NA NA rs74917756 0.01 0.01 0.008 0.0133786 0.0229 0.006 0.0144 0.003 0.0245 0.02 0.01 0.02 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726605 NA NA NA NA NA NA NA 5.4771 1104 20 1703106 1703106 T C intergenic SIRPG,LOC100289473 dist=64681;dist=50905 NA NA ncRNA_exonic ENSG00000234282 NA NA NA NA NA 20p13 NA Name=USF-1,TCF12,NFKB,EBF,BATF,RXRA,EBF1_(C-8),IRF4_(M-17),MEF2A,PU.1,ATF3,SP1,MEF2C_(SC-13268) Name=15 NA rs202511 0.48 0.48 0.47 0.473842 0.5229 0.369 0.5951 0.503 0.4059 0.51 0.4 0.54 0.47 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340585 NA NA NA NA NA 0.5 NA 5.4771 1104 9 117668142 117668142 C T exonic TNFSF8 NA synonymous SNV TNFSF8:NM_001244:exon3:c.G276A:p.R92R,TNFSF8:NM_001252290:exon3:c.G276A:p.R92R exonic ENSG00000106952 NA synonymous SNV ENSG00000106952:ENST00000223795:exon3:c.G276A:p.R92R NA NA 9q32 NA NA Name=15 NA rs3181195 0.33 0.33 0.287 0.329073 0.4016 0.245 0.5 0.1974 0.3978 0.4 0.27 0.47 0.22 0.3822 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798704 NA NA 0.40593 0.246028 NA 0.304 NA 5.4769366 1104 13 51736083 51736083 G A ncRNA_intronic LINC00371 NA NA NA ncRNA_exonic ENSG00000214878 NA NA NA Score=754;Name=lod=1550 NA 13q14.3 NA NA NA NA rs7318961 0.17 0.17 0.156 0.140176 0.1899 0.2609 0.1902 0.0416 0.0624 0.21 0.24 0.17 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149239 NA NA NA NA NA 0.13 NA 5.4767666 1104 9 34917851 34917851 G A intergenic FAM205B,KIAA1045 dist=79268;dist=40341 NA NA ncRNA_exonic ENSG00000178723 NA NA NA Score=793;Name=lod=2230 NA 9p13.3 NA Name=TCF4 NA NA rs2279790 0.42 0.42 0.4 0.372804 0.5239 0.3462 0.4798 0.3048 0.2607 0.51 0.36 0.45 0.31 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649895 NA NA NA NA NA 0.565 NA 5.4761 1104 9 34917869 34917869 G A intergenic FAM205B,KIAA1045 dist=79286;dist=40323 NA NA ncRNA_exonic ENSG00000178723 NA NA NA Score=793;Name=lod=2230 NA 9p13.3 NA Name=TCF4 NA NA rs2279791 0.42 0.42 0.388 0.373003 0.5239 0.3462 0.4798 0.3048 0.2618 0.51 0.36 0.45 0.31 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.755761 1.755761 NA NA NA NA 0.565 NA 5.4761 1104 15 64706332 64706332 A G exonic TRIP4 NA synonymous SNV TRIP4:NM_016213:exon8:c.A1092G:p.P364P exonic ENSG00000103671 NA synonymous SNV ENSG00000103671:ENST00000261884:exon8:c.A1092G:p.P364P NA NA 15q22.31 NA NA NA NA rs34758599 0.03 0.03 0.028 0.0355431 0.0686 0.001 0.0259 0.003 0.0879 0.07 NA 0.02 0.0041 0.06 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981261 NA NA 0.062558 0.012029 NA 0.065 NA 5.4755086 1104 1 4772053 4772053 T C exonic AJAP1 NA synonymous SNV AJAP1:NM_001042478:exon2:c.T123C:p.C41C,AJAP1:NM_018836:exon2:c.T123C:p.C41C exonic ENSG00000196581 NA synonymous SNV ENSG00000196581:ENST00000378190:exon2:c.T123C:p.C41C,ENSG00000196581:ENST00000378191:exon2:c.T123C:p.C41C Score=381;Name=lod=47 NA 1p36.32 NA NA NA NA rs1061968 0.48 0.48 0.455 0.526757 0.3668 0.6567 0.5014 0.5212 0.5828 0.38 0.62 0.48 0.45 0.4616 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170577 NA NA 0.363063 0.505023 ID=COSM426406;OCCURENCE=1(breast) 0.362 NA 5.4752036 1104 21 27945141 27945141 G A intronic CYYR1 NA NA NA intronic ENSG00000166265 NA NA NA NA NA 21q21.3 NA Name=SUZ12,Pol2-4H8 Name=40 NA rs62216535 0.24 0.24 0.256 0.257188 0.17 0.12 0.2248 0.5325 0.1391 0.17 0.13 0.22 0.49 0.1922 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839829 NA NA 0.16275 0.464351 NA 0.348 NA 5.47505 1105 3 187416719 187416719 T C exonic RTP2 NA nonsynonymous SNV RTP2:NM_001004312:exon2:c.A245G:p.Q82R exonic ENSG00000198471 NA nonsynonymous SNV ENSG00000198471:ENST00000358241:exon2:c.A245G:p.Q82R NA NA 3q27.3 NA NA NA NA rs11707167 0.53 0.53 0.49 0.496805 0.6402 0.7361 0.5865 0.0499 0.6431 0.62 0.76 0.58 0.08 0.5998 0.76 0.35 T 0.001 B 0.004 B 0.574 N 1.000 P 1.155 L 2.46 T -1.041 T 0.000 T 0.015 -0.624 1.232 1.92 0.104 -0.539 7.772 -0.623756 NA 0.2 0.618721 0.160009 NA 0.493 NA 5.4746124 1105 10 44111800 44111800 T C exonic ZNF485 NA synonymous SNV ZNF485:NM_145312:exon5:c.T309C:p.S103S exonic ENSG00000198298 NA synonymous SNV ENSG00000198298:ENST00000374437:exon3:c.T36C:p.S12S,ENSG00000198298:ENST00000361807:exon5:c.T309C:p.S103S,ENSG00000198298:ENST00000374435:exon5:c.T309C:p.S103S,ENSG00000198298:ENST00000430885:exon5:c.T309C:p.S103S NA NA 10q11.21 NA NA NA NA rs17447580 0.05 0.05 0.044 0.0405351 0.0805 0.001 0.0303 0.0424 0.045 0.08 0.0017 0.03 0.06 0.0503 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1115 NA NA 0.061279 0.032002 NA 0.051 NA 5.4745876 1105 18 29487567 29487567 C A exonic TRAPPC8 NA synonymous SNV TRAPPC8:NM_014939:exon9:c.G1245T:p.P415P exonic ENSG00000153339 NA synonymous SNV ENSG00000153339:ENST00000283351:exon9:c.G1245T:p.P415P,ENSG00000153339:ENST00000582513:exon9:c.G1245T:p.P415P,ENSG00000153339:ENST00000582539:exon9:c.G1083T:p.P361P,ENSG00000153339:ENST00000580104:exon10:c.G1245T:p.P415P NA NA 18q12.1 NA NA NA NA rs34176695 0.05 0.05 0.053 0.0529153 0.0636 0.0109 0.0447 0.0877 0.044 0.07 0.01 0.03 0.1 0.0618 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289854 NA NA 0.066977 0.083749 NA 0.072 NA 5.4742896 1105 22 32754232 32754232 C T exonic RFPL3 NA synonymous SNV RFPL3:NM_001098535:exon1:c.C174T:p.T58T,RFPL3:NM_006604:exon2:c.C87T:p.T29T exonic ENSG00000128276 NA synonymous SNV ENSG00000128276:ENST00000249007:exon1:c.C174T:p.T58T,ENSG00000128276:ENST00000382088:exon1:c.C87T:p.T29T,ENSG00000128276:ENST00000397468:exon2:c.C87T:p.T29T NA NA 22q12.3 NA NA NA NA rs57606003 0.14 0.14 0.088 0.144569 0.0408 0.4583 0.0893 0.0265 0.1268 0.04 0.42 0.09 0.02 0.0991 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327962 NA NA 0.052674 0.037449 NA NA NA 5.4740926 1105 5 179036357 179036357 G A intronic RUFY1 NA NA NA intronic ENSG00000176783 NA NA NA NA NA 5q35.3 NA Name=Pol2-4H8,ZNF263,Pol2(phosphoS2),Pol2 Name=61 NA rs7448707 0.34 0.34 0.322 NA NA NA NA NA NA 0.19 0.67 0.37 0.18 0.3026 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763954 NA NA 0.223605 0.19882 NA 0.268 NA 5.473795 1105 5 126507009 126507009 A T intergenic C5orf63,MEGF10 dist=97825;dist=119447 NA NA ncRNA_exonic ENSG00000250080 NA NA NA Score=591;Name=lod=337 NA 5q23.2 NA NA Name=5 NA rs248076 0.47 0.47 0.501 0.452676 0.5268 0.3571 0.3963 0.5234 0.4192 0.51 0.39 0.45 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119026 NA NA NA NA NA 0.42 NA 5.4732 1105 3 177418132 177418132 G A ncRNA_intronic LINC00578 NA NA NA ncRNA_intronic ENSG00000228221 NA NA NA Score=638;Name=lod=524 NA 3q26.32 NA NA NA NA rs36055300 0.18 0.18 0.163 0.16254 0.1938 0.1806 0.1902 0.1127 0.1595 0.19 0.22 0.16 0.11 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142713 NA NA NA NA NA 0.123 NA 5.4728666 1105 7 138719231 138719231 T C intronic ZC3HAV1L NA NA NA intronic ENSG00000146858 NA NA NA NA NA 7q34 NA Name=c-Fos,c-Jun Name=33 NA rs7810237 0.52 0.52 0.557 0.546326 0.5278 0.3442 0.3646 0.7799 0.5869 0.53 0.36 0.41 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479565 NA NA NA NA NA 0.471 NA 5.4722 1105 3 167167186 167167186 T A exonic SERPINI2 NA synonymous SNV SERPINI2:NM_006217:exon7:c.A969T:p.S323S,SERPINI2:NM_001012303:exon8:c.A999T:p.S333S exonic ENSG00000114204 NA synonymous SNV ENSG00000114204:ENST00000471111:exon6:c.A969T:p.S323S,ENSG00000114204:ENST00000264677:exon7:c.A969T:p.S323S,ENSG00000114204:ENST00000461846:exon7:c.A969T:p.S323S,ENSG00000114204:ENST00000476257:exon8:c.A969T:p.S323S Score=366;Name=lod=41 NA 3q26.1 NA NA NA NA rs6770577 0.39 0.39 0.369 0.370807 0.4095 0.3859 0.3761 0.3026 0.4039 0.41 0.4 0.4 0.35 0.3955 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309411 NA NA 0.389884 0.311394 NA 0.362 NA 5.4717826 1105 9 7799606 7799606 C A exonic C9orf123 NA synonymous SNV C9orf123:NM_033428:exon1:c.G129T:p.L43L exonic ENSG00000137038 NA synonymous SNV ENSG00000137038:ENST00000358227:exon1:c.G129T:p.L43L NA NA 9p24.1 NA Name=TAF7_(SQ-8),Pol2(phosphoS2),Pol2,ELK4,ZEB1_(SC-25388) NA NA rs14059 0.38 0.38 0.364 0.377196 0.3897 0.38 0.5389 0.267 0.3957 0.38 0.36 0.55 0.28 0.4091 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.703104 NA NA 0.396163 0.278938 NA 0.181 NA 5.4717036 1105 19 43690506 43690506 G C exonic PSG5 NA nonsynonymous SNV PSG5:NM_001130014:exon1:c.C52G:p.L18V,PSG5:NM_002781:exon1:c.C52G:p.L18V exonic ENSG00000204941 NA nonsynonymous SNV ENSG00000204941:ENST00000342951:exon1:c.C52G:p.L18V,ENSG00000204941:ENST00000366175:exon1:c.C52G:p.L18V,ENSG00000204941:ENST00000404580:exon1:c.C52G:p.L18V,ENSG00000204941:ENST00000407356:exon1:c.C52G:p.L18V,ENSG00000204941:ENST00000407568:exon1:c.C52G:p.L18V,ENSG00000204941:ENST00000599812:exon1:c.C52G:p.L18V NA NA 19q13.31 NA NA NA NA rs8107936 0.64 0.64 0.674 0.730631 0.6123 0.9762 0.5749 0.7481 0.6861 0.54 0.91 0.49 0.59 0.6487 0.91 0.09 T 0.254 B 0.424 B . . 1.000 P 1.03 L 5.01 T -1.113 T 0.000 T 0.087 -0.071 3.655 0.325 0.166 0.008 3.712 -0.070693 NA 0.07 0.600978 0.722878 ID=COSM1564387;OCCURENCE=1(large_intestine) 0.558 NA 5.4713554 1105 1 11288758 11288758 G A exonic MTOR NA synonymous SNV MTOR:NM_004958:exon19:c.C2997T:p.N999N exonic ENSG00000198793 NA synonymous SNV ENSG00000198793:ENST00000361445:exon19:c.C2997T:p.N999N Score=558;Name=lod=246 NA 1p36.22 Score=955;Name=V$CREBP1CJUN_01 NA NA NA rs1064261 0.7 0.7 0.667 0.700479 0.7237 0.9187 0.8141 0.3351 0.865 0.73 0.91 0.8 0.33 0.7429 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782447 NA NA 0.728721 0.40059 NA 0.696 NA 5.4713456 1105 19 4454000 4454000 G A exonic UBXN6 NA synonymous SNV UBXN6:NM_001171091:exon2:c.C15T:p.A5A,UBXN6:NM_025241:exon2:c.C174T:p.A58A exonic ENSG00000167671 NA synonymous SNV ENSG00000167671:ENST00000301281:exon2:c.C174T:p.A58A,ENSG00000167671:ENST00000394765:exon2:c.C15T:p.A5A,ENSG00000167671:ENST00000592515:exon2:c.C102T:p.A34A NA NA 19p13.3 Score=821;Name=V$AP4_01 NA NA NA rs11909 0.33 0.33 0.298 0.312101 0.4115 0.2867 0.2205 0.2595 0.3722 0.43 0.29 0.24 0.28 0.3798 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143379 NA NA 0.404164 0.290286 NA 0.297 NA 5.4712026 1105 1 237144731 237144731 G C intergenic MTR,MT1HL1 dist=77450;dist=22672 NA NA ncRNA_exonic ENSG00000237991 NA NA NA Score=712;Name=lod=1047 NA 1q43 NA NA Name=2 NA rs6671297 0.45 0.45 0.37 0.426118 0.5288 0.5417 0.4769 0.2088 0.4591 0.53 0.5 0.46 0.24 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187364 NA NA NA NA NA 0.471 NA 5.4712 1105 11 308178 308178 T C UTR5 IFITM2 NM_006435:c.-15T>C NA NA UTR5 ENSG00000185201 ENST00000399817:c.-15T>C NA NA NA NA 11p15.5 NA Name=GABP,TAF1,PU.1,Pol2,FOXA2_(SC-6554),ELF1_(SC-631),FOXA1_(SC-101058),CEBPB,CTCF,Pol2-4H8,Sin3Ak-20,STAT3,HEY1,STAT2,TBP Name=133 NA rs1058873 0.43 0.43 0.39 0.473642 0.2664 0.6935 0.3977 0.4418 0.5573 0.26 0.69 0.37 0.43 0.3571 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59231 NA NA 0.239136 0.349825 NA 0.101 NA 5.4706974 1105 19 18368969 18368969 G A intronic KIAA1683 NA NA NA intronic ENSG00000130518 NA NA NA NA NA 19p13.11 NA NA NA NA rs999814 0.22 0.22 0.179 0.185503 0.2724 0.2371 0.3314 0.0189 0.1646 0.29 0.23 0.29 0.04 0.257 0.29 . . . . . . . . 1.000 P . . . . -0.969 T 0.000 T . 0.192 5.036 -0.424 0.158 1.160 5.262 0.192248 NA 0.01 NA NA NA 0.217 NA 5.4706 1105 16 1268013 1268013 G C exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon31:c.G5400C:p.T1800T,CACNA1H:NM_021098:exon32:c.G5418C:p.T1806T exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon30:c.G5400C:p.T1800T,ENSG00000196557:ENST00000358590:exon31:c.G5400C:p.T1800T,ENSG00000196557:ENST00000348261:exon32:c.G5418C:p.T1806T NA NA 16p13.3 NA NA NA NA rs57135930 0.03 0.03 0.02 0.0327476 0.0557 NA 0.0375 NA 0.0838 0.06 NA 0.04 NA 0.0799 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057193 NA NA 0.060473 0.008954 ID=COSM434636,COSM434637;OCCURENCE=1(breast) 0.043 NA 5.4705936 1105 8 144240257 144240257 C G exonic LY6H NA synonymous SNV LY6H:NM_001135655:exon3:c.G213C:p.T71T,LY6H:NM_002347:exon3:c.G150C:p.T50T,LY6H:NM_001130478:exon4:c.G213C:p.T71T exonic ENSG00000176956 NA synonymous SNV ENSG00000176956:ENST00000342752:exon3:c.G213C:p.T71T,ENSG00000176956:ENST00000430474:exon3:c.G150C:p.T50T,ENSG00000176956:ENST00000414417:exon4:c.G213C:p.T71T Score=429;Name=lod=74 NA 8q24.3 NA NA NA NA rs9694368 0.35 0.35 0.36 0.321486 0.3917 0.2768 0.2968 0.3101 0.3282 0.39 0.3 0.33 0.37 0.3765 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954637 NA NA 0.427907 0.312074 ID=COSM150559;OCCURENCE=1(stomach) 0.471 NA 5.4705596 1105 19 9271969 9271969 C A exonic ZNF317 NA synonymous SNV ZNF317:NM_001190791:exon6:c.C1552A:p.R518R,ZNF317:NM_020933:exon7:c.C1648A:p.R550R exonic ENSG00000130803 NA synonymous SNV ENSG00000130803:ENST00000360385:exon6:c.C1552A:p.R518R,ENSG00000130803:ENST00000247956:exon7:c.C1648A:p.R550R NA NA 19p13.2 NA NA NA NA rs9305035 0.1 0.1 0.088 0.091254 0.0527 0.0972 0.0836 0.1536 0.046 0.06 0.1 0.09 0.18 0.0748 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444213 NA NA 0.068837 0.150477 NA 0.101 NA 5.4703296 1105 7 100549865 100549865 C T intergenic ACHE,MUC12 dist=56324;dist=63039 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.C446T:p.T149M NA NA 7q22.1 NA NA NA NA rs35420758 0.12 0.12 0.097 0.113818 0.2177 0.0278 0.121 0.1437 0.0501 0.19 0.02 0.12 0.12 0.1456 0.19 0.07 T . . . . . . . . 0.55 N . . -1.030 T 0.000 T 0.199 1.845 12.13 -0.735 -0.249 0.791 4.119 1.844996 1.844996 0.05 NA NA NA 0.087 NA 5.4700334 1105 6 47649574 47649574 A G exonic GPR111 NA nonsynonymous SNV GPR111:NM_153839:exon7:c.A1075G:p.K359E exonic ENSG00000164393 NA nonsynonymous SNV ENSG00000164393:ENST00000398742:exon5:c.A1075G:p.K359E,ENSG00000164393:ENST00000296862:exon6:c.A1279G:p.K427E,ENSG00000164393:ENST00000507065:exon6:c.A1075G:p.K359E,ENSG00000164393:ENST00000467205:exon7:c.A1075G:p.K359E NA NA 6p12.3 NA NA NA NA rs10807372 0.38 0.38 0.468 0.509385 0.6272 0.3085 0.4323 0.4448 0.7372 0.49 0.26 0.44 0.33 0.5908 0.65 0.17 T 0.009 B 0.015 B 0.407 N 1.000 P 0.55 N 2.06 T -1.016 T 0.018 T 0.095 0.843 8.406 1.64 0.401 0.485 1.345 0.843036 NA 0.32 0.645419 0.45464 NA NA NA 5.4699144 1105 12 8386911 8386911 G A ncRNA_exonic FAM86FP NA NA NA ncRNA_exonic ENSG00000164845 NA NA NA Score=340;Name=lod=32 NA 12p13.31 NA NA NA NA rs2968743 0.34 0.34 0.263 0.408546 0.1968 0.5278 0.4121 0.4569 0.4356 0.19 0.47 0.38 0.41 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323272 NA NA NA NA NA NA NA 5.4698666 1105 17 4608389 4608389 A C upstream PELP1 NA NA NA ncRNA_exonic ENSG00000213939 NA NA NA Score=715;Name=lod=1070 NA 17p13.2 NA Name=Pol2 NA NA rs7210729 0.69 0.69 0.678 0.695288 0.6968 0.8284 0.7219 0.4849 0.8221 0.72 0.85 0.72 0.45 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853567 NA NA NA NA NA 0.572 NA 5.4698666 1105 22 22661181 22661181 C G ncRNA_exonic LOC96610 NA NA NA ncRNA_exonic ENSG00000236850 NA NA NA Score=707;Name=lod=995 NA 22q11.22 NA NA NA NA rs73880611 NA NA 0.005 0.132188 0.1968 NA 0.1037 0.233 0.0859 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555475 NA NA NA NA NA 0.007 NA 5.4698666 1105 5 179050188 179050188 A C intronic HNRNPH1 NA NA NA UTR5 ENSG00000169045 ENST00000356731:c.-54T>G,ENST00000506721:c.-54T>G,ENST00000504348:c.-54T>G NA NA NA NA 5q35.3 NA Name=HMGN3,TAF1,HA-E2F1,Pol2-4H8,Pol2,HEY1 Name=132 NA rs1136267 0.45 0.45 0.389 0.502196 0.3479 0.7321 0.5389 0.2859 0.6902 0.34 0.74 0.49 0.25 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194025 NA NA 0.349151 0.315751 NA 0.362 NA 5.4696157 1105 2 29366646 29366646 C T exonic CLIP4 NA synonymous SNV CLIP4:NM_024692:exon7:c.C720T:p.A240A exonic ENSG00000115295 NA synonymous SNV ENSG00000115295:ENST00000401617:exon6:c.C399T:p.A133A,ENSG00000115295:ENST00000320081:exon7:c.C720T:p.A240A,ENSG00000115295:ENST00000401605:exon7:c.C720T:p.A240A,ENSG00000115295:ENST00000404424:exon7:c.C720T:p.A240A,ENSG00000115295:ENST00000415891:exon7:c.C720T:p.A240A NA NA 2p23.2 NA NA NA NA rs35024908 0.04 0.04 0.035 0.0301518 0.0765 NA 0.0303 0.0318 0.0112 0.08 NA 0.05 0.03 0.0519 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974149 NA NA 0.068837 0.035633 NA 0.007 NA 5.4694296 1105 5 178194296 178194296 T A ncRNA_exonic AACSP1 NA NA NA ncRNA_exonic ENSG00000250420 NA NA NA Score=599;Name=lod=362 NA 5q35.3 NA NA NA NA rs60234391 0.12 0.12 0.124 0.100439 0.1978 0.001 0.1398 0.1127 0.0583 0.19 0.01 0.16 0.12 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337924 NA NA NA NA NA 0.225 NA 5.4688666 1105 18 77208922 77208922 C T exonic NFATC1 NA synonymous SNV NFATC1:NM_172388:exon3:c.C111T:p.A37A,NFATC1:NM_006162:exon4:c.C1527T:p.A509A,NFATC1:NM_172387:exon4:c.C1488T:p.A496A,NFATC1:NM_172389:exon4:c.C1488T:p.A496A,NFATC1:NM_172390:exon4:c.C1527T:p.A509A exonic ENSG00000131196 NA synonymous SNV ENSG00000131196:ENST00000397790:exon3:c.C111T:p.A37A,ENSG00000131196:ENST00000545796:exon3:c.C111T:p.A37A,ENSG00000131196:ENST00000253506:exon4:c.C1527T:p.A509A,ENSG00000131196:ENST00000318065:exon4:c.C1488T:p.A496A,ENSG00000131196:ENST00000329101:exon4:c.C1488T:p.A496A,ENSG00000131196:ENST00000427363:exon4:c.C1527T:p.A509A,ENSG00000131196:ENST00000542384:exon4:c.C1527T:p.A509A,ENSG00000131196:ENST00000586434:exon4:c.C1488T:p.A496A,ENSG00000131196:ENST00000587635:exon4:c.C1527T:p.A509A,ENSG00000131196:ENST00000591814:exon4:c.C1527T:p.A509A,ENSG00000131196:ENST00000592223:exon4:c.C1488T:p.A496A NA NA 18q23 NA NA NA NA rs25657 0.07 0.07 0.077 0.0820687 0.0596 0.0863 0.0346 0.0998 0.1104 0.06 0.09 0.04 0.1 0.0717 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760077 NA NA 0.066977 0.080799 NA 0.072 NA 5.4683896 1105 5 32074509 32074509 G A exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon17:c.G3297A:p.T1099T exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon17:c.G3297A:p.T1099T,ENSG00000133401:ENST00000438447:exon18:c.G3297A:p.T1099T NA NA 5p13.3 NA NA NA NA rs2291113 0.1 0.1 0.084 0.0986422 0.0507 0.2232 0.1066 0.0318 0.1043 0.05 0.24 0.08 0.03 0.0794 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050253 NA NA 0.068256 0.045847 NA 0.065 NA 5.4683106 1105 9 115933885 115933885 A C exonic FKBP15 NA synonymous SNV FKBP15:NM_015258:exon24:c.T2634G:p.A878A exonic ENSG00000119321 NA synonymous SNV ENSG00000119321:ENST00000238256:exon24:c.T2634G:p.A878A,ENSG00000119321:ENST00000446284:exon24:c.T2709G:p.A903A NA NA 9q32 NA NA NA NA rs1128118 0.05 0.05 0.054 0.0832668 0.0477 0.0387 0.0403 0.112 0.1575 0.05 0.02 0.04 0.11 0.0878 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878741 NA NA 0.062969 0.113123 NA 0.101 NA 5.4681976 1105 6 25916979 25916979 C T exonic SLC17A2 NA synonymous SNV SLC17A2:NM_005835:exon8:c.G864A:p.L288L exonic ENSG00000112337 NA synonymous SNV ENSG00000112337:ENST00000265425:exon7:c.G864A:p.L288L,ENSG00000112337:ENST00000360488:exon8:c.G864A:p.L288L,ENSG00000112337:ENST00000377850:exon8:c.G864A:p.L288L Score=493;Name=lod=134 NA 6p22.2 NA NA NA NA rs1865760 0.43 0.43 0.385 0.40016 0.4026 0.6964 0.4568 0.143 0.3998 0.39 0.71 0.41 0.16 0.4071 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825761 NA NA 0.389535 0.185429 NA 0.246 NA 5.4674316 1105 20 61467800 61467800 A G intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA Name=Egr-1 Name=44 NA rs760087 0.24 0.24 0.212 0.223043 0.1849 0.4683 0.2795 0.0885 0.1513 0.17 0.43 0.28 0.08 0.1888 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189656 NA NA 0.159884 0.102587 NA 0.181 NA 5.466416 1105 7 152373252 152373252 C G upstream XRCC2 NA NA NA upstream ENSG00000196584 NA NA NA NA NA 7q36.1 NA Name=ELF1_(SC-631),Max,CHD2_(N-1250),E2F6_(H-50),TAF1,GABP,HMGN3,E2F4,ATF3,Mxi1_(bHLH),NRSF,SP1,Pol2,E2F6,eGFP-JunD,BRCA1_(C-1863),HEY1,NFKB,AP-2gamma,CCNT2,c-Myc,PAX5-C20,Nrf1,IRF1,TBP,AP-2alpha,Pol2(b),ELK4,Egr-1,YY1,RFX5_(N-494),Pol2-4H8,E2F1,GATA-2,ZNF263,c-Jun,HA-E2F1,Sin3Ak-20 Name=148 NA rs3218384 0.15 0.15 0.14 0.145567 0.2008 0.1488 0.1225 0.0514 0.229 0.21 0.15 0.15 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095697 NA NA NA NA NA 0.094 NA 5.4658666 1105 20 3842984 3842984 C T exonic MAVS NA synonymous SNV MAVS:NM_001206491:exon4:c.C126T:p.D42D,MAVS:NM_020746:exon5:c.C549T:p.D183D exonic ENSG00000088888 NA synonymous SNV ENSG00000088888:ENST00000416600:exon4:c.C126T:p.D42D,ENSG00000088888:ENST00000428216:exon5:c.C549T:p.D183D NA NA 20p13 NA NA NA NA rs2326369 0.14 0.14 0.141 0.146366 0.0507 0.247 0.0922 0.2156 0.0859 0.05 0.23 0.1 0.21 0.0926 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.740325 1.740325 0 0.057674 0.188833 NA 0.094 NA 5.4656926 1105 5 178416288 178416288 G A exonic GRM6 NA synonymous SNV GRM6:NM_000843:exon5:c.C1131T:p.D377D exonic ENSG00000113262 NA synonymous SNV ENSG00000113262:ENST00000231188:exon5:c.C1131T:p.D377D,ENSG00000113262:ENST00000517717:exon6:c.C1131T:p.D377D NA NA 5q35.3 Score=925;Name=V$HSF2_01 NA NA NA rs2071246 0.74 0.74 0.738 0.721645 0.7455 0.6974 0.6772 0.7791 0.6759 0.75 0.7 0.68 0.81 0.7241 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.392522 NA NA 0.73186 0.748979 NA 0.79 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086022.1;CLNDSDB=.;CLNDSDBID=. 5.4652066 1105 14 75137664 75137664 T C intronic AREL1 NA NA NA intronic ENSG00000119682 NA NA NA NA NA 14q24.3 NA Name=CTCF,c-Fos Name=77 NA rs2302832 0.39 0.39 0.371 0.342452 0.5348 0.5397 0.4294 0.0257 0.3078 0.54 0.5 0.41 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903832 NA NA NA NA NA 0.471 NA 5.4652 1106 4 175688138 175688138 A G exonic GLRA3 NA synonymous SNV GLRA3:NM_001042543:exon3:c.T243C:p.F81F,GLRA3:NM_006529:exon3:c.T243C:p.F81F exonic ENSG00000145451 NA synonymous SNV ENSG00000145451:ENST00000274093:exon3:c.T243C:p.F81F,ENSG00000145451:ENST00000340217:exon3:c.T243C:p.F81F Score=596;Name=lod=354 NA 4q34.1 Score=898;Name=V$ZID_01 NA NA NA rs7696263 0.8 0.8 0.727 0.790735 0.7445 0.998 0.7305 0.6694 0.8313 0.74 0.98 0.75 0.73 0.7763 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.383381 1.383381 NA 0.68093 0.669542 NA 0.768 NA 5.4649366 1106 14 90429749 90429749 A G exonic TDP1 NA synonymous SNV TDP1:NM_001008744:exon2:c.A291G:p.Q97Q,TDP1:NM_018319:exon3:c.A291G:p.Q97Q exonic ENSG00000042088 NA synonymous SNV ENSG00000042088:ENST00000555880:exon1:c.A291G:p.Q97Q,ENSG00000042088:ENST00000393454:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000545686:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000553989:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000554180:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000555178:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000556498:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000556867:exon2:c.A291G:p.Q97Q,ENSG00000042088:ENST00000335725:exon3:c.A291G:p.Q97Q,ENSG00000042088:ENST00000393452:exon3:c.A291G:p.Q97Q,ENSG00000042088:ENST00000553527:exon3:c.A291G:p.Q97Q,ENSG00000042088:ENST00000554976:exon3:c.A291G:p.Q97Q NA NA 14q32.11 NA NA NA NA rs3825663 0.23 0.23 0.242 0.270567 0.0398 0.0357 0.1254 0.8207 0.1094 0.04 0.04 0.14 0.8 0.116 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083569 NA NA 0.04593 0.688379 NA 0.283 NA 5.4649366 1106 7 99569394 99569394 G A exonic AZGP1 NA synonymous SNV AZGP1:NM_001185:exon2:c.C312T:p.I104I exonic ENSG00000160862 NA synonymous SNV ENSG00000160862:ENST00000292401:exon2:c.C312T:p.I104I,ENSG00000160862:ENST00000411734:exon2:c.C303T:p.I101I Score=425;Name=lod=71 NA 7q22.1 NA NA NA NA rs17295356 0.4 0.4 0.376 0.374401 0.4105 0.6409 0.4885 0.0734 0.3885 0.41 0.66 0.43 0.07 0.3987 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174885 NA NA 0.392558 0.133227 NA 0.37 NA 5.4649086 1106 3 10067651 10067651 C T ncRNA_intronic CIDECP NA NA NA ncRNA_intronic ENSG00000186162 NA NA NA NA NA 3p25.3 NA Name=ERRA,c-Myc NA NA rs2075310 0.33 0.33 0.359 0.358227 0.2018 0.0685 0.2608 0.8555 0.2147 0.2 0.1 0.28 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080137 NA NA NA NA NA 0.522 NA 5.4648666 1106 5 115298977 115298977 C T exonic AQPEP NA synonymous SNV AQPEP:NM_173800:exon1:c.C663T:p.F221F exonic ENSG00000172901 NA synonymous SNV ENSG00000172901:ENST00000357872:exon1:c.C663T:p.F221F,ENSG00000172901:ENST00000504467:exon1:c.C663T:p.F221F Score=309;Name=lod=24 NA 5q23.1 NA NA NA NA rs1445708 0.37 0.37 0.317 0.389177 0.3917 0.4246 0.4265 0.2708 0.4836 0.38 0.4 0.45 0.26 0.4201 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101795 NA NA 0.390007 0.258314 ID=COSM448466;OCCURENCE=1(breast) 0.391 NA 5.4648596 1106 1 118629599 118629599 G A exonic SPAG17 NA synonymous SNV SPAG17:NM_206996:exon11:c.C1392T:p.P464P exonic ENSG00000155761 NA synonymous SNV ENSG00000155761:ENST00000336338:exon11:c.C1392T:p.P464P NA NA 1p12 NA NA NA NA rs12142616 0.11 0.11 0.104 0.131789 0.0596 0.2847 0.0461 0.0749 0.1861 0.06 0.24 0.05 0.09 0.0855 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872265 NA NA 0.05686 0.076941 NA 0.043 NA 5.4647066 1106 17 6659324 6659324 A G UTR5 XAF1 NM_199139:c.-74A>G,NM_017523:c.-74A>G NA NA UTR5 ENSG00000132530 ENST00000575369:c.-74A>G,ENST00000574394:c.-74A>G,ENST00000438512:c.-74A>G,ENST00000441631:c.-74A>G,ENST00000346752:c.-74A>G,ENST00000361842:c.-74A>G NA NA NA NA 17p13.1 NA Name=STAT1,Pol2,YY1_(C-20),TAF1,TBP,STAT2,NFKB,YY1,Pol2-4H8 Name=93 NA rs3785793 0.56 0.56 0.582 0.607228 0.4294 0.6071 0.4827 0.8268 0.5818 0.41 0.59 0.48 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456459 NA NA 0.439975 0.758671 NA 0.565 NA 5.4639584 1106 11 6129152 6129152 T C exonic OR56B4 NA synonymous SNV OR56B4:NM_001005181:exon1:c.T144C:p.N48N exonic ENSG00000180919 NA synonymous SNV ENSG00000180919:ENST00000316529:exon1:c.T144C:p.N48N NA NA 11p15.4 NA NA NA NA rs4758387 0.13 0.13 0.138 0.170927 0.0517 0.0506 0.098 0.4297 0.1196 0.06 0.06 0.09 0.37 0.0943 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37103 NA NA 0.056797 0.355747 ID=COSM1355220;OCCURENCE=1(large_intestine) 0.145 NA 5.4638696 1106 8 10467588 10467588 T C exonic RP1L1 NA synonymous SNV RP1L1:NM_178857:exon4:c.A4020G:p.E1340E exonic ENSG00000183638 NA synonymous SNV ENSG00000183638:ENST00000382483:exon4:c.A4020G:p.E1340E NA NA 8p23.1 NA NA NA NA rs78920388 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA 0.2028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004248 NA NA NA NA NA NA NA 5.4638666 1106 13 25517634 25517634 C T ncRNA_intronic TPTE2P1 NA NA NA ncRNA_intronic ENSG00000253771 NA NA NA NA NA 13q12.13 NA Name=MafK_(ab50322) NA NA rs73164317 0.19 0.19 0.194 0.238219 0.2028 0.0833 0.1499 0.3359 0.365 0.19 0.09 0.19 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392495 NA NA NA NA NA 0.254 NA 5.4638666 1106 12 52710309 52710309 G A exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon6:c.C984T:p.N328N exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon6:c.C984T:p.N328N NA NA 12q13.13 Score=924;Name=V$CDPCR3HD_01 NA NA NA rs2257286 0.36 0.36 0.33 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 0.3828 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396025 NA NA 0.41054 0.489333 ID=COSM147523;OCCURENCE=1(stomach) 0.413 NA 5.4638266 1106 9 19622268 19622268 T C exonic SLC24A2 NA synonymous SNV SLC24A2:NM_001193288:exon2:c.A960G:p.P320P,SLC24A2:NM_020344:exon2:c.A960G:p.P320P exonic ENSG00000155886 NA synonymous SNV ENSG00000155886:ENST00000286344:exon2:c.A960G:p.P320P,ENSG00000155886:ENST00000341998:exon2:c.A960G:p.P320P Score=505;Name=lod=150 NA 9p22.1 NA NA Name=2 NA rs4977308 0.79 0.79 0.776 0.78155 0.7227 0.8671 0.8156 0.7542 0.7669 0.73 0.89 0.8 0.77 0.7604 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460515 NA NA 0.720349 0.757149 NA 0.725 NA 5.4632176 1106 4 10117728 10117728 G A intronic WDR1 NA NA NA intronic ENSG00000071127 NA NA NA NA NA 4p16.1 NA Name=Pol2,Pol2-4H8,Sin3Ak-20,TAF7_(SQ-8),TAF1,TBP,c-Myc,NF-YB Name=143 NA rs35782983 0.12 0.12 0.09 0.131989 0.1779 0.0268 0.2579 0.0877 0.1636 0.17 0.02 0.25 0.09 0.1691 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340691 1.340691 NA 0.189962 0.080816 NA 0.101 NA 5.463038 1106 3 38647642 38647642 G T intronic SCN5A NA NA NA intronic ENSG00000183873 NA NA NA Score=448;Name=lod=88 NA 3p22.2 NA NA NA NA rs41312433 0.15 0.15 0.13 0.151158 0.1799 0.0972 0.1859 0.121 0.1933 0.18 0.1 0.18 0.12 0.1722 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.906763 1.906763 NA 0.184956 0.12675 NA 0.123 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041595.1|RCV000127965.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.462944 1106 10 72025954 72025954 G A exonic NPFFR1 NA synonymous SNV NPFFR1:NM_022146:exon2:c.C201T:p.I67I exonic ENSG00000148734 NA synonymous SNV ENSG00000148734:ENST00000449957:exon1:c.C195T:p.I65I,ENSG00000148734:ENST00000277942:exon2:c.C201T:p.I67I NA NA 10q22.1 NA NA NA NA rs3812696 0.08 0.08 0.088 0.0623003 0.0815 0.131 0.0403 0.0303 0.0307 0.08 0.14 0.04 0.03 0.0583 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686179 NA NA 0.064109 0.041029 NA 0.036 NA 5.4627576 1106 19 44352688 44352688 G A exonic ZNF283 NA synonymous SNV ZNF283:NM_181845:exon7:c.G1935A:p.E645E exonic ENSG00000167637 NA synonymous SNV ENSG00000167637:ENST00000588797:exon6:c.G1518A:p.E506E,ENSG00000167637:ENST00000324461:exon7:c.G1935A:p.E645E Score=376;Name=lod=45 NA 19q13.31 NA NA NA NA rs2883946 0.35 0.35 0.359 0.38738 0.3976 0.2401 0.2478 0.4493 0.544 0.41 0.24 0.3 0.42 0.4015 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338839 NA NA 0.405363 0.426636 NA 0.377 NA 5.4622036 1106 4 39482942 39482942 A C ncRNA_exonic LOC401127 NA NA NA ncRNA_exonic ENSG00000224097 NA NA NA Score=782;Name=lod=2004 NA 4p14 NA NA NA NA rs10010309 0.21 0.21 0.218 0.212061 0.2048 0.0754 0.1816 0.4206 0.1002 0.2 0.07 0.16 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016033 NA NA NA NA NA 0.29 NA 5.4618666 1106 4 57237683 57237683 G A exonic AASDH NA synonymous SNV AASDH:NM_181806:exon5:c.C795T:p.S265S exonic ENSG00000157426 NA synonymous SNV ENSG00000157426:ENST00000513376:exon4:c.C495T:p.S165S,ENSG00000157426:ENST00000602986:exon4:c.C336T:p.S112S,ENSG00000157426:ENST00000205214:exon5:c.C795T:p.S265S,ENSG00000157426:ENST00000451613:exon5:c.C795T:p.S265S,ENSG00000157426:ENST00000502617:exon5:c.C795T:p.S265S Score=460;Name=lod=99 NA 4q12 NA NA NA NA rs6554354 0.28 0.28 0.277 0.277955 0.4155 0.0724 0.2939 0.2829 0.3303 0.42 0.06 0.31 0.28 0.3635 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904582 NA NA 0.426047 0.291421 ID=COSM1131103;OCCURENCE=1(prostate) 0.29 NA 5.4616196 1106 9 104152790 104152790 G C exonic MRPL50 NA synonymous SNV MRPL50:NM_019051:exon2:c.C435G:p.A145A exonic ENSG00000136897 NA synonymous SNV ENSG00000136897:ENST00000374865:exon2:c.C435G:p.A145A NA NA 9q31.1 NA NA NA NA rs8394 0.06 0.06 0.052 0.0676917 0.0736 0.1071 0.0375 0.0136 0.1155 0.07 0.1 0.04 0.02 0.0669 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399234 NA NA 0.064625 0.017265 NA 0.08 NA 5.4615416 1106 15 57753867 57753867 C A intronic CGNL1 NA NA NA intronic ENSG00000128849 NA NA NA NA NA 15q21.3 NA Name=GATA3_(SC-268),ERalpha_a Name=7 NA rs1511951 0.14 0.14 0.147 0.137979 0.1819 0.0764 0.1138 0.1649 0.137 0.19 0.09 0.1 0.15 0.1682 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470772 NA NA 0.188374 0.171077 NA 0.065 NA 5.461526 1106 7 930608 930608 G A exonic GET4 NA synonymous SNV GET4:NM_015949:exon5:c.G510A:p.A170A exonic ENSG00000239857 NA synonymous SNV ENSG00000239857:ENST00000426056:exon3:c.G393A:p.A131A,ENSG00000239857:ENST00000407192:exon4:c.G351A:p.A117A,ENSG00000239857:ENST00000265857:exon5:c.G510A:p.A170A,ENSG00000239857:ENST00000412734:exon5:c.G351A:p.A117A NA NA 7p22.3 NA NA NA NA rs11543223 0.06 0.06 0.059 0.058107 0.0765 NA 0.0346 0.1172 0.0358 0.09 NA 0.05 0.12 0.0619 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598573 NA NA 0.067093 0.129142 NA 0.094 NA 5.4611736 1106 19 3762698 3762698 C T UTR5 MRPL54 NM_172251:c.-1C>T NA NA UTR5 ENSG00000183617 ENST00000330133:c.-1C>T NA NA Score=346;Name=lod=34 NA 19p13.3 NA Name=Pol2(b),JunD,ELK4,Egr-1,YY1,STAT3,Pol2-4H8,Sin3Ak-20,NFKB,c-Myc,ZBTB7A_(SC-34508),SIX5,SRF,USF-1,THAP1_(SC-98174),IRF1,TBP,Znf143_(16618-1-AP),ETS1,TAF1,GATA-1,GABP,POU2F2,TCF4,Pol2,eGFP-JunD,BCLAF1_(M33-P5B11),YY1_(C-20),BRCA1_(C-1863),ELF1_(SC-631),Max,Oct-2,CEBPB,GTF2F1_(RAP-74) Name=146 NA rs13960 0.61 0.61 0.567 0.595248 0.6272 0.6647 0.5865 0.4697 0.6667 0.63 0.67 0.6 0.49 0.6146 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010163 NA NA 0.630581 0.511348 NA 0.536 NA 5.4609524 1106 6 25779392 25779392 A G exonic SLC17A4 NA synonymous SNV SLC17A4:NM_005495:exon12:c.A1470G:p.K490K exonic ENSG00000146039 NA synonymous SNV ENSG00000146039:ENST00000439485:exon7:c.A780G:p.K260K,ENSG00000146039:ENST00000377905:exon12:c.A1470G:p.K490K NA NA 6p22.2 NA NA NA NA rs9358890 0.2 0.2 0.17 0.194289 0.0398 0.4921 0.245 0.0408 0.2178 0.05 0.54 0.19 0.04 0.1202 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331134 NA NA 0.045814 0.047208 NA 0.08 NA 5.4608526 1106 12 14649196 14649196 A G exonic ATF7IP NA synonymous SNV ATF7IP:NM_018179:exon14:c.A3312G:p.T1104T exonic ENSG00000171681 NA synonymous SNV ENSG00000171681:ENST00000540793:exon13:c.A3312G:p.T1104T,ENSG00000171681:ENST00000261168:exon14:c.A3312G:p.T1104T,ENSG00000171681:ENST00000536444:exon14:c.A3309G:p.T1103T,ENSG00000171681:ENST00000544627:exon14:c.A3336G:p.T1112T NA NA 12p13.1 NA NA NA NA rs61754409 0.06 0.06 0.033 0.0597045 0.0557 NA 0.2983 0.0045 0.0307 0.06 NA 0.23 0.01 0.0831 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.067845 NA NA 0.067093 0.01566 NA 0.029 NA 5.4607736 1106 7 156469190 156469190 A G exonic RNF32 NA synonymous SNV RNF32:NM_001184996:exon9:c.A930G:p.A310A,RNF32:NM_001184997:exon9:c.A930G:p.A310A,RNF32:NM_030936:exon9:c.A930G:p.A310A exonic ENSG00000105982 NA synonymous SNV ENSG00000105982:ENST00000343665:exon7:c.A858G:p.A286A,ENSG00000105982:ENST00000317955:exon9:c.A930G:p.A310A,ENSG00000105982:ENST00000392743:exon9:c.A930G:p.A310A,ENSG00000105982:ENST00000432459:exon9:c.A930G:p.A310A,ENSG00000105982:ENST00000405335:exon10:c.A930G:p.A310A NA NA 7q36.3 NA Name=Pol2 NA NA rs2302145 0.54 0.54 0.576 0.532348 0.4006 0.5248 0.4597 0.8646 0.2781 0.42 0.54 0.43 0.82 0.4279 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153586 NA NA 0.377442 0.774626 NA 0.029 NA 5.4607246 1106 6 157963743 157963743 G A exonic ZDHHC14 NA synonymous SNV ZDHHC14:NM_024630:exon2:c.G372A:p.T124T,ZDHHC14:NM_153746:exon2:c.G372A:p.T124T exonic ENSG00000175048 NA synonymous SNV ENSG00000175048:ENST00000359775:exon2:c.G372A:p.T124T,ENSG00000175048:ENST00000414563:exon2:c.G372A:p.T124T Score=284;Name=lod=19 NA 6q25.3 NA NA NA NA rs2365611 0.39 0.39 0.36 0.396965 0.4016 0.3839 0.4856 0.3457 0.4121 0.42 0.37 0.44 0.34 0.4127 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98839 NA NA 0.392059 0.356332 NA 0.478 NA 5.4603076 1106 11 1651595 1651595 G A exonic KRTAP5-5 NA synonymous SNV KRTAP5-5:NM_001001480:exon1:c.G525A:p.Q175Q exonic ENSG00000185940 NA synonymous SNV ENSG00000185940:ENST00000399676:exon1:c.G525A:p.Q175Q NA NA 11p15.5 NA NA NA NA rs138562325 0.07 0.07 0.035 0.0726837 0.1044 0.003 0.0893 0.1331 0.0184 0.09 NA 0.08 0.09 0.0006 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.904936 NA NA 0.101443 0.133288 NA NA NA 5.4602236 1106 4 104082349 104082349 C T exonic CENPE NA synonymous SNV CENPE:NM_001813:exon20:c.G2025A:p.Q675Q exonic ENSG00000138778 NA synonymous SNV ENSG00000138778:ENST00000380026:exon19:c.G1950A:p.Q650Q,ENSG00000138778:ENST00000265148:exon20:c.G2025A:p.Q675Q,ENSG00000138778:ENST00000503705:exon20:c.G2025A:p.Q675Q Score=512;Name=lod=160 NA 4q24 NA NA NA NA rs2251634 0.43 0.43 0.432 0.45008 0.4076 0.3006 0.353 0.674 0.4141 0.42 0.27 0.37 0.68 0.4063 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089363 NA NA 0.392741 0.586739 NA 0.5 NA 5.4600256 1106 19 53345076 53345076 T C exonic ZNF468 NA synonymous SNV ZNF468:NM_001008801:exon4:c.A471G:p.E157E exonic ENSG00000204604 NA synonymous SNV ENSG00000204604:ENST00000390651:exon4:c.A312G:p.E104E,ENSG00000204604:ENST00000595646:exon4:c.A471G:p.E157E,ENSG00000204604:ENST00000396409:exon5:c.A312G:p.E104E NA NA 19q13.41 NA NA NA NA rs61747369 0.08 0.08 0.072 NA NA NA NA NA NA 0.11 0.05 0.09 0.08 0.1068 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582881 NA NA 0.099884 0.084203 NA 0.13 NA 5.4599826 1106 4 9998440 9998440 C T exonic SLC2A9 NA synonymous SNV SLC2A9:NM_020041:exon3:c.G375A:p.T125T,SLC2A9:NM_001001290:exon4:c.G288A:p.T96T exonic ENSG00000109667 NA synonymous SNV ENSG00000109667:ENST00000264784:exon3:c.G375A:p.T125T,ENSG00000109667:ENST00000309065:exon4:c.G288A:p.T96T,ENSG00000109667:ENST00000513129:exon4:c.G288A:p.T96T,ENSG00000109667:ENST00000506583:exon5:c.G288A:p.T96T NA NA 4p16.1 NA Name=FOSL2 Name=43 NA rs10939650 0.66 0.66 0.665 0.642173 0.7525 0.506 0.5821 0.6944 0.6411 0.76 0.51 0.62 0.7 0.7054 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716594 NA NA 0.749419 0.683613 ID=COSM149644;OCCURENCE=1(stomach) 0.674 NA 5.4593476 1106 6 131184914 131184914 C T intronic EPB41L2 NA NA NA intronic ENSG00000079819 NA NA NA NA NA 6q23.1 NA Name=HNF4A_(H-171),FOXA1_(C-20),JunD,FOSL2,HDAC2_(SC-6296),SP1,TCF4,HNF4A,HNF4G_(SC-6558),ELF1_(SC-631),FOXA1_(SC-101058),FOXA2_(SC-6554),HEY1,RXRA,CEBPB,p300,BHLHE40,TCF12 Name=5 NA rs915171 0.26 0.26 0.268 0.285743 0.2654 0.1498 0.2723 0.385 0.3221 0.27 0.17 0.27 0.36 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927365 NA NA 0.275927 0.370665 NA 0.319 NA 5.458673 1106 11 7022717 7022717 T C exonic ZNF214 NA nonsynonymous SNV ZNF214:NM_013249:exon3:c.A197G:p.Y66C exonic ENSG00000149050 NA nonsynonymous SNV ENSG00000149050:ENST00000278314:exon3:c.A197G:p.Y66C,ENSG00000149050:ENST00000536068:exon4:c.A197G:p.Y66C NA NA 11p15.4 NA NA NA NA rs1156526 0.59 0.59 0.584 0.592652 0.6223 0.7073 0.6354 0.416 0.6524 0.62 0.68 0.61 0.41 0.6323 0.68 0.37 T 0.0 B 0.0 B 0.219 N 1.000 P 0 N 3.49 T -1.052 T 0.000 T 0.149 -2.54 0.003 -0.007 -0.081 -0.816 0.893 -2.540209 NA 0.52 0.620256 0.412994 NA 0.507 NA 5.4584774 1106 11 64981837 64981837 C T exonic SLC22A20 NA nonsynonymous SNV SLC22A20:NM_001004326:exon2:c.C422T:p.A141V ncRNA_exonic ENSG00000197847 NA NA NA Score=409;Name=lod=61 NA 11q13.1 NA NA NA NA rs12420456 0.3 0.3 0.3 0.287141 0.3628 0.2599 0.4611 0.1377 0.316 0.36 0.26 0.41 0.19 0.3377 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943792 NA 0.01 0.341245 0.183852 ID=COSM429600,COSM429601;OCCURENCE=1(breast) 0.341 NA 5.458255 1106 13 111992247 111992247 C A exonic TEX29 NA synonymous SNV TEX29:NM_152324:exon4:c.C207A:p.I69I exonic ENSG00000153495 NA synonymous SNV ENSG00000153495:ENST00000283547:exon4:c.C207A:p.I69I NA NA 13q34 NA NA NA NA rs35344026 0.06 0.06 0.06 0.0561102 0.0646 0.0575 0.0706 0.0265 0.0757 0.06 0.05 0.06 0.05 0.0653 0.079 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.43525 NA NA 0.079186 0.035179 NA 0.036 NA 5.4575806 1106 12 52711549 52711549 G A exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon4:c.C666T:p.C222C exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon4:c.C666T:p.C222C Score=532;Name=lod=194 NA 12q13.13 NA NA NA NA rs2857667 0.36 0.36 0.367 0.376198 0.4095 0.1885 0.317 0.5008 0.409 0.41 0.19 0.33 0.51 0.3833 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83932 NA NA 0.416512 0.490695 ID=COSM147526;OCCURENCE=1(stomach) 0.428 NA 5.4573546 1106 3 191087551 191087551 G A intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA Name=p300,CEBPB Name=58 NA rs697905 0.73 0.73 0.743 0.754193 0.5427 0.9117 0.6945 0.8585 0.7106 0.55 0.91 0.67 0.85 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643791 NA NA NA NA NA 0.609 NA 5.4573 1106 16 3071420 3071420 T A intronic TNFRSF12A NA NA NA intronic ENSG00000006327 NA NA NA NA NA 16p13.3 NA Name=Pol2,TAF1,BAF155,Pol2-4H8,Ini1,IRF1,HEY1 Name=144 NA rs2232798 0.48 0.48 0.488 0.495008 0.5427 0.3046 0.5288 0.5779 0.5061 0.53 0.31 0.54 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.552998 1.552998 NA NA NA NA 0.623 NA 5.4573 1106 20 54941124 54941124 T C intronic FAM210B NA NA NA intronic ENSG00000124098 NA NA NA Score=363;Name=lod=40 NA 20q13.2 NA Name=CTCF NA NA rs6099114 0.21 0.21 0.194 0.229832 0.1938 0.001 0.1499 0.5514 0.1247 0.18 NA 0.17 0.54 0.1811 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656811 NA NA 0.168023 0.485247 NA 0.239 NA 5.457077 1106 1 212619339 212619339 T C exonic NENF NA synonymous SNV NENF:NM_013349:exon4:c.T510C:p.D170D exonic ENSG00000117691 NA synonymous SNV ENSG00000117691:ENST00000366988:exon4:c.T510C:p.D170D Score=605;Name=lod=383 NA 1q32.3 NA NA NA NA rs4804 0.49 0.49 0.467 0.479233 0.3807 0.6746 0.5605 0.4939 0.3016 0.38 0.66 0.51 0.46 0.4287 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837979 NA NA 0.401047 0.493418 NA 0.442 NA 5.4562196 1106 18 60241699 60241699 T C exonic ZCCHC2 NA synonymous SNV ZCCHC2:NM_017742:exon13:c.T2385C:p.I795I exonic ENSG00000141664 NA synonymous SNV ENSG00000141664:ENST00000586834:exon12:c.T1422C:p.I474I,ENSG00000141664:ENST00000269499:exon13:c.T2385C:p.I795I NA NA 18q21.33 NA NA NA NA rs34413962 0.04 0.04 0.028 0.0409345 0.0746 0.002 0.0648 0.0212 0.0562 0.06 NA 0.07 0.01 0.0641 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418862 NA NA 0.071839 0.027833 NA 0.043 NA 5.4561276 1106 8 27277537 27277537 G A exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon3:c.G330A:p.T110T,PTK2B:NM_173176:exon3:c.G330A:p.T110T,PTK2B:NM_004103:exon4:c.G330A:p.T110T,PTK2B:NM_173174:exon8:c.G330A:p.T110T exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon2:c.G330A:p.T110T,ENSG00000120899:ENST00000346049:exon3:c.G330A:p.T110T,ENSG00000120899:ENST00000412793:exon3:c.G330A:p.T110T,ENSG00000120899:ENST00000420218:exon3:c.G330A:p.T110T,ENSG00000120899:ENST00000522517:exon3:c.G330A:p.T110T,ENSG00000120899:ENST00000544172:exon7:c.G330A:p.T110T,ENSG00000120899:ENST00000338238:exon8:c.G330A:p.T110T,ENSG00000120899:ENST00000397501:exon8:c.G330A:p.T110T NA NA 8p21.2 Score=799;Name=V$CDPCR3_01 NA NA NA rs1030526 0.34 0.34 0.333 0.386581 0.4076 0.2718 0.2738 0.4228 0.5143 0.41 0.23 0.31 0.4 0.3983 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088525 NA NA 0.405116 0.42374 NA 0.486 NA 5.4556506 1106 1 118530796 118530796 C T exonic SPAG17 NA synonymous SNV SPAG17:NM_206996:exon39:c.G5553A:p.Q1851Q exonic ENSG00000155761 NA synonymous SNV ENSG00000155761:ENST00000437255:exon9:c.G993A:p.Q331Q,ENSG00000155761:ENST00000336338:exon39:c.G5553A:p.Q1851Q NA NA 1p12 NA NA NA NA rs12040811 0.12 0.12 0.111 0.138379 0.0626 0.3403 0.0461 0.0522 0.1902 0.06 0.3 0.05 0.04 0.0909 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218682 NA NA 0.057674 0.049024 NA 0.072 NA 5.4554926 1106 6 42924247 42924247 G A intergenic CNPY3,GNMT dist=17239;dist=4253 NA NA ncRNA_exonic ENSG00000181524 NA NA NA Score=720;Name=lod=1123 NA 6p21.1 NA Name=SP1 NA NA rs13216214 0.48 0.48 0.492 0.494409 0.5447 0.1706 0.428 0.7632 0.4601 0.55 0.19 0.43 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.486112 2.486112 NA NA NA NA 0.587 NA 5.4553 1106 6 42924424 42924424 G T intergenic CNPY3,GNMT dist=17416;dist=4076 NA NA ncRNA_exonic ENSG00000181524 NA NA NA Score=720;Name=lod=1123 NA 6p21.1 NA Name=SP1,CTCF_(SC-5916),ZBTB33 NA NA rs4714640 0.48 0.48 0.44 0.496206 0.5447 0.1696 0.428 0.77 0.4611 0.55 0.19 0.43 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5263 1.5263 NA NA NA NA 0.58 NA 5.4553 1106 2 198365788 198365788 C T intronic HSPE1,HSPE1-MOB4 NA NA NA intronic ENSG00000115541,ENSG00000144381,ENSG00000270757 NA NA NA NA NA 2q33.1 NA Name=CTCF Name=52 NA rs2305560 0.16 0.16 0.161 0.130192 0.1978 0.2143 0.1686 0.0378 0.0716 0.19 0.23 0.18 0.03 0.162 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893651 NA NA 0.185 0.06877 NA 0.072 NA 5.4552 1107 20 61143951 61143951 G C ncRNA_exonic C20orf166-AS1 NA NA NA ncRNA_exonic ENSG00000174403 NA NA NA NA NA 20q13.33 NA Name=ZNF263 NA NA rs45612436 0.12 0.12 0.092 0.106829 0.2117 0.0317 0.1427 0.0386 0.1431 0.21 0.03 0.15 0.04 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607058 NA NA NA NA NA 0.109 NA 5.4549666 1107 5 169763 169763 A G intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA Name=USF-1 Name=81 NA rs1108868 0.44 0.44 0.425 0.465455 0.5457 0.2798 0.4481 0.475 0.5736 0.54 0.28 0.46 0.46 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073213 NA NA NA NA NA 0.551 NA 5.4543 1107 5 157117586 157117586 C A intergenic C5orf52,THG1L dist=10424;dist=40737 NA NA upstream ENSG00000253798 NA NA NA NA NA 5q33.3 NA Name=CTCF,TCF12,CTCF_(C-20),CTCF_(SC-5916) Name=6 NA rs35001216 0.03 0.03 0.041 0.038139 0.0457 NA 0.036 0.0227 0.092 0.04 NA 0.03 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072258 NA NA NA NA NA 0.007 NA 5.4543 1107 11 51426461 51426461 G A intergenic OR4A5,OR4C46 dist=14013;dist=88821 NA NA ncRNA_exonic ENSG00000255349 NA NA NA Score=482;Name=lod=121 NA 11p11.12 Score=921;Name=V$TAL1BETAITF2_01 NA NA NA rs561121 0.46 0.46 0.46 0.431709 0.5457 0.5407 0.5821 0.2027 0.4049 0.55 0.53 0.58 0.16 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943766 NA NA NA NA NA 0.355 NA 5.4543 1107 14 65216120 65216120 C T exonic SPTB NA synonymous SNV SPTB:NM_001024858:exon35:c.G6891A:p.A2297A exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000553938:exon18:c.G2991A:p.A997A,ENSG00000070182:ENST00000389722:exon35:c.G6891A:p.A2297A,ENSG00000070182:ENST00000556626:exon36:c.G6891A:p.A2297A NA NA 14q23.3 NA NA NA NA rs57421986 0.1 0.1 0.104 0.104433 0.0775 0.0317 0.0346 0.2421 0.0706 0.08 0.03 0.04 0.25 0.0757 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750634 NA NA 0.059186 0.222197 NA 0.094 NA 5.4542806 1107 13 25356053 25356053 T C exonic RNF17 NA synonymous SNV RNF17:NM_001184993:exon6:c.T582C:p.F194F,RNF17:NM_031277:exon6:c.T582C:p.F194F exonic ENSG00000132972 NA synonymous SNV ENSG00000132972:ENST00000255324:exon6:c.T582C:p.F194F,ENSG00000132972:ENST00000255325:exon6:c.T582C:p.F194F,ENSG00000132972:ENST00000381921:exon6:c.T582C:p.F194F Score=456;Name=lod=95 NA 13q12.12 NA NA NA NA rs9707144 0.45 0.45 0.458 0.437899 0.3748 0.4315 0.4712 0.4871 0.4192 0.39 0.49 0.45 0.48 0.4328 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976335 NA NA 0.405 0.47458 NA 0.391 NA 5.4540666 1107 15 28235773 28235773 C T exonic OCA2 NA synonymous SNV OCA2:NM_000275:exon10:c.G1065A:p.A355A exonic ENSG00000104044 NA synonymous SNV ENSG00000104044:ENST00000354638:exon10:c.G1065A:p.A355A,ENSG00000104044:ENST00000382996:exon10:c.G1065A:p.A355A Score=464;Name=lod=103 NA 15q13.1 Score=904;Name=V$YY1_01 NA NA NA rs1800404 0.51 0.51 0.459 0.410743 0.7863 0.3859 0.5793 0.1271 0.3139 0.79 0.42 0.62 0.12 0.6367 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148447 NA NA 0.789767 0.226282 NA 0.507 NA 5.4538996 1107 10 115341753 115341753 G A exonic HABP2 NA synonymous SNV HABP2:NM_001177660:exon9:c.G879A:p.K293K,HABP2:NM_004132:exon9:c.G957A:p.K319K exonic ENSG00000148702 NA synonymous SNV ENSG00000148702:ENST00000351270:exon9:c.G957A:p.K319K,ENSG00000148702:ENST00000542051:exon9:c.G879A:p.K293K Score=383;Name=lod=48 NA 10q25.3 NA NA NA NA rs2245056 0.39 0.39 0.347 0.376997 0.3917 0.2996 0.4914 0.416 0.3078 0.39 0.33 0.45 0.41 0.4004 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200743 NA NA 0.420698 0.416024 NA 0.304 NA 5.4538686 1107 18 44561630 44561630 C T exonic TCEB3B NA synonymous SNV TCEB3B:NM_016427:exon1:c.G6A:p.A2A exonic ENSG00000206181 NA synonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G6A:p.A2A NA NA 18q21.1 NA NA NA NA rs61746775 0.06 0.06 0.063 0.0379393 0.0835 0.0069 0.0418 0.0499 0.0041 0.09 0.01 0.05 0.07 0.0575 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014099 NA NA 0.072027 0.059518 NA 0.138 NA 5.4536396 1107 3 97916231 97916231 A G intergenic OR5H15,OR5H6 dist=27746;dist=66898 NA NA ncRNA_exonic ENSG00000249321 NA NA NA Score=399;Name=lod=56 NA 3q11.2 Score=938;Name=V$NKX3A_01 NA NA NA rs6765411 0.59 0.59 0.595 0.591853 0.5467 0.494 0.5029 0.7731 0.5573 0.55 0.56 0.48 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134569 NA NA NA NA NA 0.486 NA 5.4533 1107 12 4835882 4835882 T G exonic GALNT8 NA synonymous SNV GALNT8:NM_017417:exon2:c.T396G:p.L132L exonic ENSG00000130035 NA synonymous SNV ENSG00000130035:ENST00000252318:exon2:c.T396G:p.L132L Score=259;Name=lod=15 NA 12p13.32 NA NA NA NA rs2286578 0.35 0.35 0.327 0.313099 0.4274 0.3601 0.4179 0.1838 0.2474 0.42 0.39 0.41 0.17 0.371 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868989 NA NA 0.415233 0.238084 NA 0.326 NA 5.4530336 1107 5 176002542 176002542 C T exonic CDHR2 NA synonymous SNV CDHR2:NM_001171976:exon10:c.C804T:p.G268G,CDHR2:NM_017675:exon10:c.C804T:p.G268G exonic ENSG00000074276 NA synonymous SNV ENSG00000074276:ENST00000506348:exon9:c.C804T:p.G268G,ENSG00000074276:ENST00000261944:exon10:c.C804T:p.G268G,ENSG00000074276:ENST00000510636:exon10:c.C804T:p.G268G NA NA 5q35.2 NA NA NA NA rs41275281 0.11 0.11 0.124 0.121006 0.0706 0.1597 0.085 0.118 0.1626 0.07 0.16 0.07 0.17 0.087 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305568 NA NA 0.056163 0.106673 ID=COSM449360;OCCURENCE=1(breast) 0.203 NA 5.4529036 1107 16 1250559 1250559 T C exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon7:c.T1107C:p.I369I,CACNA1H:NM_021098:exon7:c.T1107C:p.I369I exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon6:c.T1107C:p.I369I,ENSG00000196557:ENST00000348261:exon7:c.T1107C:p.I369I,ENSG00000196557:ENST00000358590:exon7:c.T1107C:p.I369I NA NA 16p13.3 Score=872;Name=V$YY1_01 NA NA NA rs8044363 0.34 0.34 0.311 0.332668 0.4095 0.1022 0.3026 0.4902 0.2996 0.42 0.09 0.3 0.54 0.3774 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025006 NA NA 0.426919 0.46087 NA 0.449 NA 5.4528476 1107 7 100016844 100016844 C G intronic ZCWPW1 NA NA NA intronic ENSG00000078487 NA NA NA NA NA 7q22.1 NA Name=CTCF Name=14 NA rs11763414 0.12 0.12 0.112 0.116014 0.1928 0.0278 0.1153 0.1293 0.1104 0.19 0.02 0.12 0.11 0.1578 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657794 NA NA 0.196741 0.14726 NA 0.188 NA 5.452659 1107 17 37009072 37009072 C T intronic RPL23 NA NA NA intronic ENSG00000125691 NA NA NA NA NA 17q12 NA Name=HEY1,Pol2 Name=47 NA rs1239179 0.09 0.09 0.066 0.0710863 0.1889 0.003 0.1037 0.0113 0.0777 0.18 NA 0.11 0.02 0.1479 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173482 NA NA 0.210698 0.0371 NA 0.072 NA 5.452502 1107 3 12300058 12300058 G A intergenic SYN2,PPARG dist=66526;dist=29291 NA NA upstream ENSG00000236062 NA NA NA Score=259;Name=lod=15 NA 3p25.2 NA Name=CHD2_(N-1250),ZBTB33 NA NA rs71304098 0.03 0.03 0.033 0.0389377 0.0477 0.0228 0.0159 0.025 0.0818 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414324 NA NA NA NA NA 0.036 NA 5.4523 1107 5 95152313 95152313 A G exonic GLRX NA synonymous SNV GLRX:NM_001118890:exon2:c.T225C:p.I75I,GLRX:NM_001243658:exon2:c.T225C:p.I75I,GLRX:NM_001243659:exon2:c.T225C:p.I75I,GLRX:NM_002064:exon2:c.T225C:p.I75I exonic ENSG00000173221 NA synonymous SNV ENSG00000173221:ENST00000237858:exon2:c.T225C:p.I75I,ENSG00000173221:ENST00000379979:exon2:c.T225C:p.I75I,ENSG00000173221:ENST00000505427:exon2:c.T225C:p.I75I,ENSG00000173221:ENST00000508780:exon2:c.T225C:p.I75I,ENSG00000173221:ENST00000512469:exon2:c.T225C:p.I75I NA NA 5q15 NA Name=MafK_(SC-477),MafF_(M8194) NA NA rs4561 0.31 0.31 0.307 0.301318 0.4135 0.1716 0.2752 0.3169 0.317 0.42 0.16 0.33 0.3 0.371 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206353 NA NA 0.429884 0.333409 NA 0.341 NA 5.4522826 1107 7 155301781 155301781 A G UTR5 CNPY1 NM_001103176:c.-49T>C NA NA UTR5 ENSG00000146910 ENST00000406197:c.-49T>C,ENST00000321736:c.-49T>C NA NA Score=410;Name=lod=62 NA 7q36.3 NA NA Name=3 NA rs6947243 0.28 0.28 0.252 0.263578 0.2873 0.3502 0.2406 0.1891 0.2669 0.29 0.32 0.23 0.23 0.2946 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.839747 1.839747 NA 0.299483 0.217321 NA 0.275 NA 5.4519504 1107 3 12299983 12299983 G A intergenic SYN2,PPARG dist=66451;dist=29366 NA NA upstream ENSG00000236062 NA NA NA Score=467;Name=lod=105 NA 3p25.2 NA Name=CHD2_(N-1250),ZBTB33 NA NA rs34685612 0.03 0.03 0.032 0.0391374 0.0487 0.0228 0.0159 0.025 0.0818 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365932 NA NA NA NA NA 0.036 NA 5.4513 1107 17 46024254 46024254 A T UTR3 PNPO NM_018129:c.*106A>T NA NA ncRNA_UTR3 ENSG00000108439 NA NA NA NA NA 17q21.32 NA Name=CTCF NA NA rs117508783 0.02 0.02 0.018 0.0291534 0.0487 0.001 0.0317 0.0053 0.0685 0.04 NA 0.03 0.0041 NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23262 NA NA NA NA NA 0.043 NA 5.4513 1107 21 34804966 34804966 T C intronic IFNGR2 NA NA NA UTR3 ENSG00000142188 ENST00000420455:c.*2264A>G NA NA NA NA 21q22.11 NA Name=MEF2A,SP1,NFKB Name=3 NA rs1532 0.84 0.84 0.817 0.84345 0.7157 0.9851 0.8285 0.8752 0.7965 0.72 0.99 0.83 0.86 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026193 NA NA NA NA NA 0.768 NA 5.4509667 1107 2 132258593 132258593 A G ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=576;Name=lod=292 NA 2q21.1 NA NA NA NA rs13415770 0.3 0.3 0.28 0.30012 0.2157 0.6796 0.4092 0.0189 0.2986 0.2 0.63 0.34 0.03 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.723605 2.723605 0.06 NA NA NA 0.101 NA 5.4509666 1107 2 132277465 132277465 G A ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=599;Name=lod=362 NA 2q21.1 NA NA NA NA rs9287519 0.31 0.31 0.265 0.298522 0.2157 0.6796 0.4063 0.0144 0.2986 0.2 0.66 0.34 0.03 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176484 NA NA NA NA NA 0.254 NA 5.4509666 1107 2 132294248 132294248 C T ncRNA_intronic RNU6-81P NA NA NA ncRNA_exonic ENSG00000224679 NA NA NA Score=632;Name=lod=495 NA 2q21.1 NA NA NA NA rs13395008 0.3 0.3 0.265 0.301318 0.2157 0.6766 0.4063 0.0333 0.2904 0.2 0.65 0.35 0.04 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.41653 NA NA NA NA NA 0.159 NA 5.4509666 1107 8 37728019 37728019 T G exonic RAB11FIP1 NA synonymous SNV RAB11FIP1:NM_025151:exon4:c.A1650C:p.A550A,RAB11FIP1:NM_001002814:exon5:c.A3552C:p.A1184A exonic ENSG00000156675 NA synonymous SNV ENSG00000156675:ENST00000524118:exon3:c.A1206C:p.A402A,ENSG00000156675:ENST00000287263:exon4:c.A1650C:p.A550A,ENSG00000156675:ENST00000522727:exon4:c.A1206C:p.A402A,ENSG00000156675:ENST00000330843:exon5:c.A3552C:p.A1184A Score=486;Name=lod=126 NA 8p11.23 NA Name=c-Jun,GR NA NA rs7820872 0.83 0.83 0.805 0.800719 0.7416 0.9752 0.7738 0.8071 0.6922 0.76 0.98 0.74 0.82 0.7553 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93872 NA NA 0.718953 0.765774 NA NA NA 5.4508136 1107 9 20862515 20862515 A C intronic FOCAD NA NA NA intronic ENSG00000188352 NA NA NA NA NA 9p21.3 NA Name=FOXA1_(C-20) Name=3 NA rs4977780 0.58 0.58 0.565 0.543131 0.5497 0.6696 0.6066 0.4788 0.4479 0.57 0.68 0.59 0.45 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237987 NA NA NA NA NA 0.5 NA 5.4503 1107 2 220072852 220072852 C T intronic ZFAND2B NA NA NA UTR3 ENSG00000158552 ENST00000409319:c.*88C>T NA NA NA NA 2q35 NA Name=ELF1_(SC-631) Name=105 NA rs4674367 0.45 0.45 0.433 0.394369 0.7167 0.253 0.4294 0.2337 0.4008 0.73 0.28 0.46 0.23 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.078649 NA NA NA NA NA 0.442 NA 5.4499667 1107 11 40137543 40137543 T C exonic LRRC4C NA synonymous SNV LRRC4C:NM_020929:exon5:c.A300G:p.R100R,LRRC4C:NM_001258419:exon7:c.A300G:p.R100R exonic ENSG00000148948 NA synonymous SNV ENSG00000148948:ENST00000278198:exon2:c.A300G:p.R100R,ENSG00000148948:ENST00000527150:exon3:c.A300G:p.R100R,ENSG00000148948:ENST00000530763:exon5:c.A300G:p.R100R,ENSG00000148948:ENST00000528697:exon7:c.A300G:p.R100R Score=664;Name=lod=668 NA 11p12 NA NA NA NA rs2953310 0.53 0.53 0.546 0.499401 0.3728 0.6052 0.5058 0.7027 0.2413 0.37 0.64 0.48 0.7 0.4299 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.211774 NA NA 0.414186 0.662052 ID=COSM147178;OCCURENCE=1(stomach) 0.486 NA 5.4497806 1107 3 9944937 9944937 G T intronic IL17RE NA NA NA intronic ENSG00000163701 NA NA NA NA NA 3p25.3 NA Name=Pol2-4H8,c-Fos Name=72 NA rs279588 0.38 0.38 0.362 0.398962 0.5507 0.0972 0.4697 0.4667 0.4121 0.54 0.07 0.47 0.43 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306279 NA NA NA NA NA 0.29 NA 5.4493 1107 20 3277602 3277602 C A intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA Score=672;Name=lod=719 NA 20p13 Score=920;Name=V$SRY_02 NA NA NA rs2236104 0.19 0.19 0.187 0.188698 0.1909 0.1488 0.1772 0.2458 0.1585 0.18 0.17 0.15 0.25 0.1807 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.800622 1.800622 NA 0.180854 0.238612 NA 0.246 NA 5.447546 1107 11 124109490 124109490 A G intergenic OR8G2,OR8G1 dist=13178;dist=10933 NA NA ncRNA_exonic ENSG00000254845 NA NA NA Score=472;Name=lod=111 NA 11q24.2 NA Name=MafK_(ab50322),USF-1,eGFP-JunD NA NA rs10893182 0.5 0.5 0.452 0.444688 0.5527 0.5833 0.5591 0.3154 0.2843 0.54 0.59 0.54 0.31 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068591 NA NA NA NA NA 0.304 NA 5.4473 1107 11 124109508 124109508 G T intergenic OR8G2,OR8G1 dist=13196;dist=10915 NA NA ncRNA_exonic ENSG00000254845 NA NA NA Score=472;Name=lod=111 NA 11q24.2 NA Name=USF-1,MafK_(ab50322),eGFP-JunD NA NA rs11219519 0.5 0.5 0.469 0.444688 0.5527 0.5833 0.5591 0.3154 0.2843 0.54 0.59 0.54 0.31 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37463 NA NA NA NA NA 0.304 NA 5.4473 1107 1 231488524 231488524 C T exonic SPRTN NA nonsynonymous SNV SPRTN:NM_032018:exon5:c.C887T:p.P296L exonic ENSG00000010072 NA nonsynonymous SNV ENSG00000010072:ENST00000295050:exon5:c.C887T:p.P296L NA NA 1q42.2 NA NA NA NA rs2437150 0.56 0.56 0.515 0.532947 0.6511 0.5248 0.5216 0.4402 0.5532 0.67 0.54 0.56 0.4 0.5988 0.67 1 T 0.0 B 0.0 B 0.514 N 1.000 P 0.895 L 0.99 T -0.903 T 0.000 T 0.082 0.938 8.824 1.26 0.079 0.137 1.827 0.938228 NA 0.69 0.636395 0.467771 NA 0.42 NA 5.4470384 1107 2 132257830 132257830 C T ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=550;Name=lod=229 NA 2q21.1 NA NA NA NA rs13035779 0.34 0.34 0.298 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.21 0.66 0.38 0.13 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.08352 NA NA NA NA NA 0.29 NA 5.4469666 1107 2 132269230 132269230 G C ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA Name=CTCF NA NA rs4145988 NA NA 0.249 0.334665 0.2197 0.6815 0.4265 0.1346 0.3006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021003 NA NA NA NA NA NA NA 5.4469666 1107 2 132269231 132269231 G A ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA Name=CTCF NA NA rs4145987 0.29 0.29 0.22 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.17 0.58 0.32 0.1 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789675 NA NA NA NA NA NA NA 5.4469666 1107 17 80788465 80788465 T C exonic ZNF750 NA synonymous SNV ZNF750:NM_024702:exon3:c.A1725G:p.A575A exonic ENSG00000141579 NA synonymous SNV ENSG00000141579:ENST00000269394:exon3:c.A1725G:p.A575A,ENSG00000141579:ENST00000572562:exon3:c.A528G:p.A176A NA NA 17q25.3 NA NA Name=33 NA rs12938126 0.4 0.4 0.337 0.369209 0.4195 0.3522 0.3343 0.4017 0.316 0.42 0.37 0.37 0.43 0.3896 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46572 NA NA 0.410698 0.400363 NA 0.348 NA 5.4468686 1107 9 139686289 139686289 A G intronic TMEM141 NA NA NA intronic ENSG00000244187 NA NA NA NA NA 9q34.3 NA Name=Rad21,CTCF,Znf143_(16618-1-AP),YY1_(C-20),TAF7_(SQ-8),Pol2,SP1,SMC3_(ab9263),CTCF_(C-20),c-Myc,ZEB1_(SC-25388),USF-1,TCF12,CTCF_(SC-5916) Name=71 NA rs2811788 0.29 0.29 0.266 0.325479 0.2714 0.1498 0.2853 0.4955 0.3609 0.28 0.12 0.29 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.192524 2.192524 NA 0.282212 0.443642 NA 0.348 NA 5.446388 1107 14 107083151 107083151 C G intergenic LINC00221,NONE dist=131622;dist=NONE NA NA intronic ENSG00000224373 NA NA NA NA NA 14q32.33 NA Name=CTCF_(C-20),TCF12,CTCF_(SC-5916),ZNF263,Rad21,CTCF,CTCFL_(SC-98982),Znf143_(16618-1-AP) Name=31 NA rs11623507 0.25 0.25 0.179 0.316094 0.2207 0.3323 0.2738 0.2148 0.5644 0.22 0.34 0.26 0.18 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685976 NA NA NA NA NA 0.101 NA 5.4459667 1107 17 80788492 80788492 A G exonic ZNF750 NA synonymous SNV ZNF750:NM_024702:exon3:c.T1698C:p.P566P exonic ENSG00000141579 NA synonymous SNV ENSG00000141579:ENST00000269394:exon3:c.T1698C:p.P566P,ENSG00000141579:ENST00000572562:exon3:c.T501C:p.P167P NA NA 17q25.3 NA NA Name=33 NA rs12948179 0.4 0.4 0.364 0.36901 0.4205 0.3512 0.3343 0.4009 0.316 0.42 0.37 0.37 0.42 0.3898 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303382 NA NA 0.411047 0.402633 NA 0.406 NA 5.4453196 1107 3 12791172 12791172 T C intronic TMEM40 NA NA NA intronic ENSG00000088726 NA NA NA NA NA 3p25.2 NA Name=PU.1,Pol2,POU2F2,Oct-2 Name=9 NA rs937915 0.56 0.56 0.603 0.537141 0.5547 0.2331 0.5533 0.9342 0.2843 0.55 0.25 0.55 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.756801 NA NA NA NA NA 0.681 NA 5.4453 1108 8 22084503 22084503 C T exonic PHYHIP NA synonymous SNV PHYHIP:NM_014759:exon3:c.G201A:p.P67P,PHYHIP:NM_001099335:exon4:c.G201A:p.P67P exonic ENSG00000168490 NA synonymous SNV ENSG00000168490:ENST00000523252:exon2:c.G57A:p.P19P,ENSG00000168490:ENST00000454243:exon3:c.G201A:p.P67P,ENSG00000168490:ENST00000321613:exon4:c.G201A:p.P67P NA NA 8p21.3 Score=770;Name=V$PAX2_01 NA NA NA rs11547656 0.31 0.31 0.315 0.322484 0.4304 0.2044 0.3401 0.2398 0.4325 0.41 0.22 0.36 0.23 0.3789 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.331494 1.331494 NA 0.412635 0.252879 NA 0.384 NA 5.4447316 1108 7 88964510 88964510 T C exonic ZNF804B NA synonymous SNV ZNF804B:NM_181646:exon4:c.T2214C:p.N738N exonic ENSG00000182348 NA synonymous SNV ENSG00000182348:ENST00000333190:exon4:c.T2214C:p.N738N NA NA 7q21.13 NA NA NA NA rs62469518 0.04 0.04 0.037 0.0341454 0.0785 NA 0.0605 0.0113 0.0358 0.07 NA 0.06 0.01 0.0592 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.999897 NA NA 0.084884 0.020427 NA NA NA 5.4440826 1108 19 50562459 50562459 T G ncRNA_intronic FLJ26850 NA NA NA ncRNA_exonic ENSG00000269540 NA NA NA NA NA 19q13.33 NA Name=SETDB1,KAP1 NA NA rs11879764 0.46 0.46 0.466 0.482029 0.2227 0.744 0.4092 0.5378 0.455 0.22 0.76 0.39 0.56 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.847334 NA 0.51 NA NA NA 0.457 NA 5.4439666 1108 21 44180443 44180443 C T exonic PDE9A NA synonymous SNV PDE9A:NM_001001580:exon6:c.C252T:p.C84C,PDE9A:NM_001001575:exon7:c.C423T:p.C141C,PDE9A:NM_001001576:exon7:c.C252T:p.C84C,PDE9A:NM_001001569:exon8:c.C519T:p.C173C,PDE9A:NM_001001572:exon8:c.C282T:p.C94C,PDE9A:NM_001001577:exon8:c.C501T:p.C167C,PDE9A:NM_001001568:exon9:c.C522T:p.C174C,PDE9A:NM_001001573:exon9:c.C282T:p.C94C,PDE9A:NM_001001578:exon9:c.C597T:p.C199C,PDE9A:NM_001001579:exon9:c.C282T:p.C94C,PDE9A:NM_001001571:exon10:c.C600T:p.C200C,PDE9A:NM_001001574:exon10:c.C645T:p.C215C,PDE9A:NM_001001581:exon10:c.C702T:p.C234C,PDE9A:NM_001001584:exon10:c.C282T:p.C94C,PDE9A:NM_001001585:exon10:c.C282T:p.C94C,PDE9A:NM_001001567:exon11:c.C723T:p.C241C,PDE9A:NM_001001570:exon11:c.C744T:p.C248C,PDE9A:NM_001001582:exon11:c.C780T:p.C260C,PDE9A:NM_001001583:exon11:c.C825T:p.C275C,PDE9A:NM_002606:exon12:c.C903T:p.C301C exonic ENSG00000160191 NA synonymous SNV ENSG00000160191:ENST00000398227:exon7:c.C423T:p.C141C,ENSG00000160191:ENST00000349112:exon8:c.C519T:p.C173C,ENSG00000160191:ENST00000398229:exon8:c.C501T:p.C167C,ENSG00000160191:ENST00000335440:exon9:c.C597T:p.C199C,ENSG00000160191:ENST00000398224:exon9:c.C522T:p.C174C,ENSG00000160191:ENST00000539837:exon9:c.C519T:p.C173C,ENSG00000160191:ENST00000398232:exon10:c.C702T:p.C234C,ENSG00000160191:ENST00000398234:exon10:c.C600T:p.C200C,ENSG00000160191:ENST00000398236:exon10:c.C645T:p.C215C,ENSG00000160191:ENST00000328862:exon11:c.C825T:p.C275C,ENSG00000160191:ENST00000335512:exon11:c.C723T:p.C241C,ENSG00000160191:ENST00000380328:exon11:c.C744T:p.C248C,ENSG00000160191:ENST00000398225:exon11:c.C780T:p.C260C,ENSG00000160191:ENST00000291539:exon12:c.C903T:p.C301C Score=422;Name=lod=69 NA 21q22.3 NA NA NA NA rs13047953 0.32 0.32 0.285 0.228834 0.4374 0.4127 0.219 0.0219 0.1115 0.47 0.41 0.24 0.04 0.3509 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16269 NA NA 0.434884 0.083749 ID=COSM149237;OCCURENCE=1(stomach) 0.225 NA 5.4434826 1108 10 11299735 11299735 A T exonic CELF2 NA synonymous SNV CELF2:NM_001025076:exon5:c.A345T:p.V115V,CELF2:NM_001025077:exon5:c.A417T:p.V139V,CELF2:NM_001083591:exon5:c.A345T:p.V115V,CELF2:NM_006561:exon5:c.A438T:p.V146V exonic ENSG00000048740 NA synonymous SNV ENSG00000048740:ENST00000537122:exon3:c.A84T:p.V28V,ENSG00000048740:ENST00000354897:exon4:c.A345T:p.V115V,ENSG00000048740:ENST00000315874:exon5:c.A345T:p.V115V,ENSG00000048740:ENST00000354440:exon5:c.A345T:p.V115V,ENSG00000048740:ENST00000379261:exon5:c.A417T:p.V139V,ENSG00000048740:ENST00000399850:exon5:c.A345T:p.V115V,ENSG00000048740:ENST00000416382:exon5:c.A417T:p.V139V,ENSG00000048740:ENST00000417956:exon5:c.A345T:p.V115V,ENSG00000048740:ENST00000427450:exon5:c.A345T:p.V115V,ENSG00000048740:ENST00000450189:exon5:c.A438T:p.V146V,ENSG00000048740:ENST00000542579:exon5:c.A438T:p.V146V Score=675;Name=lod=736 NA 10p14 NA NA Name=5 NA rs2277212 0.75 0.75 0.756 0.78115 0.7247 0.8611 0.7493 0.7352 0.8415 0.74 0.85 0.71 0.68 0.7576 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.331091 1.331091 NA 0.741035 0.742828 ID=COSM1345795,COSM1345794;OCCURENCE=1(large_intestine) 0.667 NA 5.4433316 1108 5 169267784 169267784 G A exonic DOCK2 NA synonymous SNV DOCK2:NM_004946:exon27:c.G2727A:p.Q909Q exonic ENSG00000134516 NA synonymous SNV ENSG00000134516:ENST00000519628:exon4:c.G339A:p.Q113Q,ENSG00000134516:ENST00000520908:exon13:c.G1203A:p.Q401Q,ENSG00000134516:ENST00000256935:exon27:c.G2727A:p.Q909Q,ENSG00000134516:ENST00000524185:exon27:c.G2727A:p.Q909Q Score=517;Name=lod=169 NA 5q35.1 NA NA NA NA rs261623 0.41 0.41 0.416 0.395367 0.4155 0.1577 0.389 0.6415 0.2914 0.44 0.15 0.39 0.68 0.3967 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045068 NA NA 0.41186 0.603268 NA 0.471 NA 5.4426066 1108 2 9637403 9637403 A G intronic ADAM17 NA NA NA intronic ENSG00000151694 NA NA NA NA NA 2p25.1 NA Name=STAT3 Name=19 NA rs41264175 0.11 0.11 0.102 0.100639 0.1889 0.0188 0.1326 0.0817 0.0971 0.18 0.01 0.15 0.08 0.1568 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235248 NA NA 0.211744 0.100545 NA 0.167 NA 5.442556 1108 11 118955679 118955679 C T UTR5 HMBS NM_000190:c.-65C>T,NM_001258208:c.-65C>T,NM_001258209:c.-3304C>T NA NA UTR5 ENSG00000256269 ENST00000545621:c.-65C>T,ENST00000278715:c.-65C>T,ENST00000542729:c.-3304C>T,ENST00000537841:c.-3304C>T,ENST00000536813:c.-65C>T,ENST00000546302:c.-65C>T,ENST00000442944:c.-3304C>T,ENST00000542822:c.-65C>T,ENST00000544387:c.-65C>T,ENST00000535793:c.-65C>T,ENST00000543090:c.-65C>T NA NA NA NA 11q23.3 NA Name=Max,ELF1_(SC-631),E2F4,GABP,HMGN3,USF2,TAF1,ETS1,BCLAF1_(M33-P5B11),eGFP-JunD,USF1_(SC-8983),Pol2,ATF3,Mxi1_(bHLH),Pol2(phosphoS2),CCNT2,c-Myc,HEY1,NFKB,TBP,IRF1,THAP1_(SC-98174),USF-1,HA-E2F1,Sin3Ak-20,Pol2-4H8,RFX5_(N-494),Egr-1 Name=148 NA rs589925 0.44 0.44 0.379 0.404153 0.4712 0.7063 0.2795 0.112 0.5072 0.47 0.74 0.31 0.14 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100709 NA NA 0.419745 0.160116 NA 0.319 NA 5.4423884 1108 10 125521533 125521533 G A exonic CPXM2 NA synonymous SNV CPXM2:NM_198148:exon11:c.C1632T:p.D544D exonic ENSG00000121898 NA synonymous SNV ENSG00000121898:ENST00000241305:exon11:c.C1632T:p.D544D Score=568;Name=lod=271 NA 10q26.13 Score=921;Name=V$MAX_01 NA NA NA rs10794566 0.64 0.64 0.596 0.60643 0.7684 0.5655 0.7277 0.4614 0.592 0.78 0.55 0.73 0.47 0.7071 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.421479 1.421479 NA 0.749419 0.508625 NA 0.616 NA 5.4417476 1108 11 43920006 43920006 A G ncRNA_exonic SEC14L1P1 NA NA NA ncRNA_exonic ENSG00000213693 NA NA NA Score=799;Name=lod=2356 NA 11p11.2 NA NA NA NA rs7107050 0.25 0.25 0.213 0.271565 0.2256 0.2391 0.4179 0.1392 0.4274 0.24 0.27 0.4 0.13 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331777 NA NA NA NA NA 0.261 NA 5.4410666 1108 2 185800905 185800905 A T exonic ZNF804A NA nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A782T:p.Q261L exonic ENSG00000170396 NA nonsynonymous SNV ENSG00000170396:ENST00000302277:exon4:c.A782T:p.Q261L NA NA 2q32.1 NA NA NA NA rs12476147 0.66 0.66 0.643 0.619209 0.6193 0.8373 0.6945 0.438 0.5859 0.64 0.86 0.68 0.44 0.6448 0.86 0.22 T 0.0 B 0.0 B 0.203 N 1.000 P -1.5 N 3.49 T -1.065 T 0.000 T 0.038 0.849 8.431 0.194 -0.220 -0.501 1.011 0.848607 NA 0.41 0.628518 0.478665 NA 0.587 NA 5.4407154 1108 14 74061968 74061968 T C exonic ACOT4 NA synonymous SNV ACOT4:NM_152331:exon3:c.T876C:p.I292I exonic ENSG00000177465 NA synonymous SNV ENSG00000177465:ENST00000326303:exon3:c.T876C:p.I292I Score=340;Name=lod=32 NA 14q24.3 Score=854;Name=V$MRF2_01 NA NA NA rs2010070 0.86 0.86 0.867 0.861821 0.7276 0.9296 0.8501 0.9887 0.7669 0.72 0.96 0.82 0.99 0.7736 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347044 NA NA 0.724767 0.945075 NA 0.768 NA 5.4406996 1108 1 183079853 183079853 T C intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 Score=869;Name=V$CREB_02 NA Name=6 NA rs6672093 0.51 0.51 0.461 0.504992 0.5596 0.628 0.6138 0.2398 0.6033 0.57 0.58 0.57 0.29 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.889956 1.889956 NA NA NA NA 0.428 NA 5.4404 1108 20 36850940 36850940 G C exonic KIAA1755 NA synonymous SNV KIAA1755:NM_001029864:exon10:c.C2328G:p.P776P exonic ENSG00000149633 NA synonymous SNV ENSG00000149633:ENST00000435901:exon3:c.C225G:p.P75P,ENSG00000149633:ENST00000279024:exon10:c.C2328G:p.P776P NA NA 20q11.23 NA NA NA NA rs41310010 0.1 0.1 0.102 0.109026 0.0696 0.0992 0.0461 0.1649 0.1288 0.07 0.1 0.06 0.18 0.0891 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.979913 NA NA 0.067674 0.154335 NA 0.051 NA 5.4402926 1108 22 42905177 42905177 T C ncRNA_UTR3 RRP7A NA NA NA ncRNA_intronic ENSG00000172250 NA NA NA NA NA 22q13.2 NA NA Name=4 NA rs1056566 0.49 0.49 0.473 0.521166 0.2266 0.874 0.2104 0.7012 0.4376 0.22 0.87 0.19 0.69 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504915 NA NA NA NA NA 0.326 NA 5.4400666 1108 18 3582272 3582272 A C intronic DLGAP1 NA NA NA intronic ENSG00000170579 NA NA NA Score=701;Name=lod=939 NA 18p11.31 NA Name=GATA-2 NA NA rs11662259 0.18 0.18 0.171 0.179912 0.174 0.1558 0.1729 0.1573 0.2464 0.17 0.19 0.15 0.2 0.1955 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180981 NA NA 0.190465 0.169542 NA 0.21 NA 5.440035 1108 3 53321631 53321631 A C exonic DCP1A NA synonymous SNV DCP1A:NM_018403:exon10:c.T1716G:p.V572V exonic ENSG00000162290 NA synonymous SNV ENSG00000162290:ENST00000606822:exon9:c.T1608G:p.V536V,ENSG00000162290:ENST00000607628:exon10:c.T1722G:p.V574V,ENSG00000162290:ENST00000294241:exon11:c.T1716G:p.V572V Score=521;Name=lod=175 NA 3p21.1 NA NA NA NA rs9628 0.35 0.35 0.376 0.392173 0.4155 0.1845 0.353 0.4766 0.4959 0.42 0.15 0.34 0.5 0.3972 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.198207 NA NA 0.413939 0.46178 NA 0.348 NA 5.4400276 1108 15 63047778 63047778 C T exonic TLN2 NA synonymous SNV TLN2:NM_015059:exon34:c.C4524T:p.C1508C exonic ENSG00000171914 NA synonymous SNV ENSG00000171914:ENST00000494733:exon10:c.C1266T:p.C422C,ENSG00000171914:ENST00000306829:exon34:c.C4524T:p.C1508C,ENSG00000171914:ENST00000561311:exon36:c.C4524T:p.C1508C Score=517;Name=lod=168 NA 15q22.2 Score=913;Name=V$CEBPB_01 NA NA NA rs8033767 0.66 0.66 0.602 0.648962 0.7624 0.6101 0.8256 0.3949 0.7904 0.77 0.64 0.8 0.41 0.7199 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459142 1.459142 NA 0.744651 0.49251 NA 0.623 NA 5.4397156 1108 7 55238087 55238087 C T exonic EGFR NA synonymous SNV EGFR:NM_201284:exon16:c.C1968T:p.H656H exonic ENSG00000146648 NA synonymous SNV ENSG00000146648:ENST00000344576:exon16:c.C1968T:p.H656H NA NA 7p11.2 NA NA NA NA rs10258429 0.1 0.1 0.104 0.11242 0.0736 0.0496 0.049 0.2398 0.09 0.07 0.05 0.07 0.23 0.083 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656236 NA NA 0.070465 0.20926 NA 0.152 NA 5.4396016 1108 6 153345647 153345647 G A intronic RGS17 NA NA NA intronic ENSG00000091844 NA NA NA NA NA 6q25.2 NA Name=Rad21,NFKB,CTCF,CTCF_(SC-5916),TCF4,SMC3_(ab9263) Name=145 NA rs2073259 0.12 0.12 0.12 0.091853 0.2058 0.0784 0.0937 0.0106 0.0971 0.21 0.09 0.12 0.01 0.1567 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391673 NA NA 0.198372 0.041988 ID=COSN167915;OCCURENCE=1(large_intestine) 0.043 NA 5.439128 1108 15 90349461 90349461 G A exonic ANPEP NA synonymous SNV ANPEP:NM_001150:exon2:c.C354T:p.D118D exonic ENSG00000166825 NA synonymous SNV ENSG00000166825:ENST00000300060:exon2:c.C354T:p.D118D NA NA 15q26.1 NA NA NA NA rs41276922 0.05 0.05 0.05 0.0425319 0.0885 0.001 0.0403 0.0424 0.0399 0.09 0.0035 0.03 0.05 0.0616 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531535 NA NA 0.078274 0.045682 NA 0.094 NA 5.4382926 1108 7 21630982 21630982 A G exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon14:c.A2454G:p.A818A exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000328843:exon14:c.A2454G:p.A818A,ENSG00000105877:ENST00000409508:exon14:c.A2454G:p.A818A NA NA 7p15.3 NA NA NA NA rs4615458 0.53 0.53 0.494 0.530351 0.4006 0.749 0.3977 0.5855 0.4581 0.4 0.73 0.41 0.6 0.4348 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94406 NA NA 0.393051 0.51773 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079616.1;CLNDSDB=.;CLNDSDBID=. 5.4382156 1108 2 10914867 10914867 A T intronic ATP6V1C2 NA NA NA intronic ENSG00000143882 NA NA NA NA NA 2p25.1 NA Name=CEBPB Name=19 NA rs56195743 0.1 0.1 0.095 0.0832668 0.2038 0.0516 0.1225 0.0083 0.0654 0.19 0.06 0.1 0.02 0.1496 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095649 NA NA 0.208488 0.043804 NA 0.174 NA 5.438112 1108 7 45009325 45009325 G A exonic MYO1G NA synonymous SNV MYO1G:NM_033054:exon11:c.C1482T:p.H494H exonic ENSG00000136286 NA synonymous SNV ENSG00000136286:ENST00000258787:exon11:c.C1482T:p.H494H Score=512;Name=lod=161 NA 7p13 NA NA NA NA rs3735484 0.43 0.43 0.418 0.417732 0.4085 0.6081 0.3732 0.3169 0.3988 0.4 0.64 0.37 0.29 0.4079 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328164 NA NA 0.412983 0.322742 NA 0.471 NA 5.4372836 1108 20 42574442 42574442 T C intronic TOX2 NA NA NA UTR5 ENSG00000124191 ENST00000358131:c.-111T>C NA NA Score=665;Name=lod=673 NA 20q13.12 Score=953;Name=V$GATA2_01 NA NA NA rs4812769 0.81 0.81 0.794 0.810304 0.7296 0.9683 0.8184 0.7526 0.8027 0.73 0.98 0.8 0.75 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066123 NA NA NA NA NA 0.754 NA 5.4370667 1108 1 201489569 201489569 G A ncRNA_exonic RPS10P7 NA NA NA ncRNA_exonic ENSG00000223396,ENSG00000242150 NA NA NA Score=746;Name=lod=1439 NA 1q32.1 NA NA NA NA rs7354939 0.11 0.11 0.096 0.0894569 0.2296 NA 0.134 0.0613 0.044 0.22 NA 0.15 0.05 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048736 NA NA NA NA NA 0.065 NA 5.4370666 1108 11 67200819 67200819 C T exonic RPS6KB2 NA synonymous SNV RPS6KB2:NM_003952:exon10:c.C807T:p.F269F exonic ENSG00000175634 NA synonymous SNV ENSG00000175634:ENST00000312629:exon10:c.C807T:p.F269F Score=369;Name=lod=42 NA 11q13.2 NA NA NA NA rs4930427 0.41 0.41 0.377 0.35603 0.4225 0.3264 0.5389 0.3283 0.226 0.44 0.32 0.51 0.37 0.3872 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.955471 NA NA 0.420257 0.309898 ID=COSM147279;OCCURENCE=1(stomach) 0.442 NA 5.4367096 1108 8 18257994 18257994 C T exonic NAT2 NA synonymous SNV NAT2:NM_000015:exon2:c.C481T:p.L161L exonic ENSG00000156006 NA synonymous SNV ENSG00000156006:ENST00000286479:exon2:c.C481T:p.L161L,ENSG00000156006:ENST00000520116:exon2:c.C91T:p.L31L Score=405;Name=lod=59 NA 8p22 NA NA NA NA rs1799929 0.28 0.28 0.248 0.267971 0.4354 0.0367 0.3444 0.2375 0.3211 0.44 0.03 0.36 0.26 0.364 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661767 NA NA 0.431047 0.253745 NA 0.283 NA 5.4362196 1108 1 111824255 111824255 C T ncRNA_exonic CHIAP2 NA NA NA ncRNA_exonic ENSG00000203878 NA NA NA NA NA 1p13.2 NA NA Name=11 NA rs6537691 0.2 0.2 0.219 0.201078 0.2306 0.13 0.1686 0.2428 0.2106 0.24 0.14 0.17 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.204472 NA NA NA NA NA 0.188 NA 5.4360666 1108 19 57642782 57642782 C A exonic USP29 NA stopgain USP29:NM_020903:exon4:c.C2739A:p.Y913X exonic ENSG00000131864 NA stopgain ENSG00000131864:ENST00000598197:exon1:c.C2739A:p.Y913X,ENSG00000131864:ENST00000254181:exon4:c.C2739A:p.Y913X NA NA 19q13.43 NA NA NA NA rs9973206 0.93 0.93 0.935 0.952077 0.837 1 0.9265 0.9932 0.9836 0.85 1 0.93 0.99 0.8913 1 1 T . . . . . . 0.998 P . . . . . . . . . 7.165 38 -0.625 -0.616 0.277 0.115 7.164934 7.164934 0 0.836047 0.974569 NA 0.804 NA 5.435653 1108 17 61987576 61987576 G A exonic CSHL1 NA synonymous SNV CSHL1:NM_001318:exon3:c.C135T:p.S45S,CSHL1:NM_022580:exon3:c.C168T:p.S56S,CSHL1:NM_022579:exon4:c.C417T:p.S139S,CSHL1:NM_022581:exon4:c.C348T:p.S116S exonic ENSG00000204414 NA synonymous SNV ENSG00000204414:ENST00000346606:exon3:c.C135T:p.S45S,ENSG00000204414:ENST00000438387:exon3:c.C168T:p.S56S,ENSG00000204414:ENST00000450719:exon3:c.C135T:p.S45S,ENSG00000204414:ENST00000561003:exon3:c.C168T:p.S56S,ENSG00000204414:ENST00000259003:exon4:c.C231T:p.S77S,ENSG00000204414:ENST00000309894:exon4:c.C417T:p.S139S Score=528;Name=lod=186 NA 17q23.3 NA NA NA NA rs2246207 0.41 0.41 0.388 0.389776 0.4225 0.4196 0.3501 0.4637 0.2536 0.42 0.38 0.4 0.44 0.3939 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.232252 NA NA 0.415233 0.491375 ID=COSM1178447,COSM1178448;OCCURENCE=1(prostate) 0.471 NA 5.4350336 1109 9 127177736 127177736 G C UTR5 PSMB7 NM_002799:c.-32C>G NA NA upstream ENSG00000136930 NA NA NA Score=300;Name=lod=22 NA 9q33.3 NA Name=ELK4,FOXA1_(C-20),JunD,Pol2(b),AP-2alpha,Sin3Ak-20,Pol2-4H8,KAP1,RFX5_(N-494),Egr-1,NANOG_(SC-33759),YY1,SIX5,SRF,NFKB,HEY1,ZEB1_(SC-25388),STAT2,AP-2gamma,TBP,IRF1,THAP1_(SC-98174),HMGN3,GABP,ETS1,TAF1,SP2_(SC-643),BCLAF1_(M33-P5B11),TAF7_(SQ-8),BRCA1_(C-1863),YY1_(C-20),TR4,SP1,Mxi1_(bHLH),Pol2,TCF4,Pol2(phosphoS2),STAT1,Max,FOXA2_(SC-6554),ELF1_(SC-631),CHD2_(N-1250),GTF2F1_(RAP-74),CEBPB,CTCF,p300 Name=148 NA rs2236386 0.4 0.4 0.391 0.359824 0.5577 0.3214 0.464 0.1997 0.3384 0.56 0.31 0.44 0.22 0.4753 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.429111 1.429111 NA 0.532558 0.233545 NA 0.435 NA 5.434442 1109 8 62489334 62489334 C T exonic ASPH NA synonymous SNV ASPH:NM_001164750:exon16:c.G1059A:p.A353A,ASPH:NM_004318:exon16:c.G1146A:p.A382A exonic ENSG00000198363 NA synonymous SNV ENSG00000198363:ENST00000522349:exon5:c.G405A:p.A135A,ENSG00000198363:ENST00000379454:exon16:c.G1146A:p.A382A,ENSG00000198363:ENST00000541428:exon16:c.G1059A:p.A353A NA NA 8q12.3 NA NA NA NA rs16927574 0.14 0.14 0.139 0.130591 0.0795 0.2371 0.0994 0.1551 0.0624 0.06 0.26 0.07 0.15 0.0886 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942251 NA NA 0.064767 0.133227 NA 0.116 NA 5.4337996 1109 1 229568632 229568632 A G intronic ACTA1 NA NA NA intronic ENSG00000143632 NA NA NA NA NA 1q42.13 NA Name=SUZ12 NA NA rs11803533 0.26 0.26 0.253 0.273962 0.1779 0.1637 0.3098 0.503 0.1513 0.17 0.15 0.25 0.53 0.2082 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.614869 NA NA 0.180698 0.450068 NA 0.225 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079463.2;CLNDSDB=.;CLNDSDBID=. 5.433202 1109 5 140784427 140784427 T C exonic PCDHGA9 NA synonymous SNV PCDHGA9:NM_018921:exon1:c.T1908C:p.D636D,PCDHGA9:NM_032089:exon1:c.T1908C:p.D636D exonic ENSG00000261934 NA synonymous SNV ENSG00000261934:ENST00000573521:exon1:c.T1908C:p.D636D NA NA 5q31.3 NA NA NA NA rs3749769 0.12 0.12 0.115 0.128594 0.0586 0.1181 0.1527 0.177 0.1288 0.07 0.12 0.13 0.18 0.1002 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.867354 NA NA 0.074971 0.179405 NA 0.123 NA 5.4328956 1109 13 96506664 96506664 A G exonic UGGT2 NA synonymous SNV UGGT2:NM_020121:exon35:c.T4074C:p.T1358T exonic ENSG00000102595 NA synonymous SNV ENSG00000102595:ENST00000376747:exon35:c.T4074C:p.T1358T Score=471;Name=lod=109 NA 13q32.1 NA NA NA NA rs11070154 0.34 0.34 0.344 0.329073 0.4394 0.3155 0.2622 0.2526 0.3804 0.42 0.3 0.36 0.26 0.3781 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131839 NA NA 0.416512 0.269405 ID=COSM1128340;OCCURENCE=1(prostate) 0.341 NA 5.4326546 1109 6 128388799 128388799 G T exonic PTPRK NA synonymous SNV PTPRK:NM_001135648:exon12:c.C2022A:p.L674L,PTPRK:NM_002844:exon12:c.C2022A:p.L674L exonic ENSG00000152894 NA synonymous SNV ENSG00000152894:ENST00000368207:exon12:c.C2022A:p.L674L,ENSG00000152894:ENST00000368210:exon12:c.C2022A:p.L674L,ENSG00000152894:ENST00000368213:exon12:c.C2022A:p.L674L,ENSG00000152894:ENST00000368215:exon12:c.C2022A:p.L674L,ENSG00000152894:ENST00000368226:exon12:c.C2022A:p.L674L,ENSG00000152894:ENST00000368227:exon12:c.C2022A:p.L674L,ENSG00000152894:ENST00000532331:exon12:c.C2022A:p.L674L NA NA 6q22.33 Score=825;Name=V$NFKB_Q6 NA NA NA rs35030557 0.3 0.3 0.251 0.245208 0.4334 0.2411 0.4092 0.0408 0.2157 0.44 0.26 0.43 0.04 0.3739 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.874822 NA NA 0.427326 0.095778 NA 0.188 NA 5.4320406 1109 3 191093053 191093053 T C exonic CCDC50 NA synonymous SNV CCDC50:NM_178335:exon6:c.T651C:p.H217H exonic ENSG00000152492 NA synonymous SNV ENSG00000152492:ENST00000392456:exon6:c.T651C:p.H217H NA NA 3q28 NA NA NA NA rs2028572 0.5 0.5 0.512 0.501997 0.4105 0.4702 0.4697 0.7239 0.3517 0.42 0.44 0.46 0.72 0.4285 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.263037 NA NA 0.395814 0.670676 NA 0.464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041446.1;CLNDSDB=.;CLNDSDBID=. 5.4318526 1109 13 52541090 52541090 T C intronic ATP7B NA NA NA ncRNA_exonic ENSG00000236044 NA NA NA Score=517;Name=lod=169 NA 13q14.3 NA NA Name=2 NA rs4941716 0.88 0.88 0.879 0.871605 0.9016 0.9583 0.9092 0.7648 0.8691 0.89 0.97 0.91 0.76 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831101 NA NA NA NA NA 0.841 NA 5.4317333 1109 15 45694610 45694610 C T UTR5 SPATA5L1 NM_024063:c.-18C>T NA NA UTR5 ENSG00000171763 ENST00000305560:c.-18C>T,ENST00000559860:c.-18C>T,ENST00000531970:c.-18C>T NA NA NA NA 15q21.1 NA Name=PAX5-C20,PAX5-N19,SIX5,SRF,c-Myc,ZEB1_(SC-25388),NFKB,TBP,Nrf1,ELK4,Pol2(b),Pol2-4H8,HDAC2_(SC-6296),YY1,ELF1_(SC-631),CHD2_(N-1250),CEBPB,GTF2F1_(RAP-74),GABP,TAF1,BCLAF1_(M33-P5B11),YY1_(C-20),MEF2A,PU.1,SP1,Pol2,Pol2(phosphoS2) Name=148 NA rs1365610 0.46 0.46 0.441 0.452476 0.2734 0.8065 0.5216 0.3268 0.3926 0.27 0.85 0.46 0.29 0.365 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526749 NA NA 0.263274 0.284836 NA 0.312 NA 5.4316594 1109 19 56831508 56831508 G A intergenic ZSCAN5A,ZNF542 dist=91849;dist=47960 NA NA ncRNA_exonic ENSG00000266907 NA NA NA Score=706;Name=lod=986 NA 19q13.43 NA NA Name=5 NA rs7245993 0.7 0.7 0.734 0.720847 0.5686 0.752 0.6225 0.9486 0.6074 0.55 0.74 0.64 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219799 NA NA NA NA NA 0.688 NA 5.4314 1109 6 7231770 7231770 A G exonic RREB1 NA synonymous SNV RREB1:NM_001003698:exon10:c.A3438G:p.P1146P,RREB1:NM_001003699:exon10:c.A3438G:p.P1146P,RREB1:NM_001003700:exon10:c.A3438G:p.P1146P,RREB1:NM_001168344:exon10:c.A3438G:p.P1146P exonic ENSG00000124782 NA synonymous SNV ENSG00000124782:ENST00000334984:exon10:c.A3438G:p.P1146P,ENSG00000124782:ENST00000349384:exon10:c.A3438G:p.P1146P,ENSG00000124782:ENST00000379933:exon10:c.A3438G:p.P1146P,ENSG00000124782:ENST00000379938:exon10:c.A3438G:p.P1146P NA NA 6p24.3 NA NA NA NA rs34561875 0.1 0.1 0.082 0.113419 0.0706 0.2371 0.1354 0.0726 0.0695 0.07 0.19 0.1 0.06 0.1022 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958872 NA NA 0.06272 0.059068 NA 0.072 NA 5.4311466 1109 2 231037616 231037616 A G exonic SP110 NA synonymous SNV SP110:NM_004509:exon15:c.T1650C:p.G550G,SP110:NM_080424:exon15:c.T1650C:p.G550G exonic ENSG00000135899 NA synonymous SNV ENSG00000135899:ENST00000258381:exon15:c.T1650C:p.G550G,ENSG00000135899:ENST00000358662:exon15:c.T1650C:p.G550G NA NA 2q37.1 NA NA NA NA rs35495464 0.05 0.05 0.038 0.0399361 0.0924 0.001 0.049 0.0076 0.0634 0.09 0.0017 0.06 0.01 0.0606 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120024 NA NA 0.082558 0.016568 NA 0.072 NA 5.4311086 1109 9 127619553 127619553 C G intronic WDR38 NA NA NA intronic ENSG00000136918 NA NA NA NA NA 9q33.3 NA Name=Pol2(phosphoS2),Pol2,GTF2F1_(RAP-74),Egr-1,Pol2-4H8 Name=12 NA rs10819000 0.49 0.49 0.485 0.494409 0.5696 0.3839 0.5058 0.4244 0.6176 0.6 0.37 0.53 0.45 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765771 NA NA NA NA NA 0.543 NA 5.4304 1109 1 206944645 206944645 T C intronic IL10 NA NA NA intronic ENSG00000136634 NA NA NA NA Name=Behcet's disease 1q32.1 NA Name=Pol2,PU.1 Name=19 NA rs1518111 0.6 0.6 0.581 0.573083 0.7793 0.3244 0.6715 0.5658 0.5573 0.78 0.32 0.67 0.58 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.83289 1.83289 NA 0.790383 0.599711 NA 0.645 NA 5.430317 1109 4 187122355 187122355 T C exonic CYP4V2 NA synonymous SNV CYP4V2:NM_207352:exon7:c.T846C:p.C282C exonic ENSG00000145476 NA synonymous SNV ENSG00000145476:ENST00000378802:exon7:c.T846C:p.C282C NA NA 4q35.2 NA NA NA NA rs3736456 0.16 0.16 0.143 0.16274 0.0656 0.3472 0.1931 0.0719 0.1738 0.06 0.37 0.16 0.07 0.1162 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212801 NA NA 0.056279 0.05833 ID=COSM1428959;OCCURENCE=1(large_intestine) 0.138 NA 5.4285876 1109 2 234775675 234775675 G T ncRNA_exonic MSL3P1 NA NA NA ncRNA_exonic ENSG00000224287 NA NA NA Score=552;Name=lod=234 NA 2q37.1 NA NA NA NA rs213544 0.06 0.06 0.069 0.0499201 0.0835 0.0506 0.0432 0.0219 0.0573 0.08 0.05 0.05 0.04 0.0707 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.020781 NA NA 0.083909 0.039017 NA 0.058 NA 5.4285576 1109 2 201468732 201468732 C G intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA Name=STAT3,c-Fos,JunD Name=99 NA rs2293525 0.3 0.3 0.29 0.276158 0.174 0.4435 0.2709 0.2534 0.2434 0.19 0.45 0.25 0.32 0.2188 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.251802 NA NA 0.178837 0.25261 NA 0.362 NA 5.428363 1109 11 57485772 57485772 A G ncRNA_intronic TMX2-CTNND1 NA NA NA ncRNA_exonic ENSG00000213592 NA NA NA Score=624;Name=lod=459 NA 11q12.1 NA NA NA NA rs61888876 NA NA NA 0.405351 0.2386 0.7966 0.4712 0.2398 0.3507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767459 NA NA NA NA NA NA NA 5.4280666 1109 7 51287470 51287470 A G exonic COBL NA synonymous SNV COBL:NM_015198:exon2:c.T213C:p.S71S exonic ENSG00000106078 NA synonymous SNV ENSG00000106078:ENST00000265136:exon2:c.T213C:p.S71S,ENSG00000106078:ENST00000395540:exon2:c.T213C:p.S71S,ENSG00000106078:ENST00000395542:exon2:c.T213C:p.S71S,ENSG00000106078:ENST00000441453:exon2:c.T213C:p.S71S,ENSG00000106078:ENST00000449281:exon2:c.T165C:p.S55S Score=456;Name=lod=95 NA 7p12.1 NA Name=CTCF NA NA rs801142 0.76 0.76 0.771 0.75639 0.7425 0.7817 0.804 0.7572 0.7096 0.74 0.8 0.78 0.73 0.7545 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208091 NA NA 0.74186 0.735134 ID=COSM453217;OCCURENCE=1(breast) 0.754 NA 5.4278066 1109 1 24706113 24706113 G A intronic STPG1 NA NA NA exonic ENSG00000001460 NA unknown UNKNOWN NA NA 1p36.11 NA NA NA NA rs3765428 0.43 0.43 0.408 0.415335 0.3618 0.4444 0.5058 0.4773 0.2924 0.38 0.44 0.47 0.47 0.3694 0.48 . . . . . . . . 1.000 P . . . . -0.951 T 0.000 T . -0.485 1.766 -2.19 -0.742 -0.824 13.102 -0.485484 NA NA 0.341163 0.482751 NA 0.312 NA 5.427637 1109 3 185905876 185905876 G A intronic DGKG NA NA NA intronic ENSG00000058866 NA NA NA NA NA 3q27.2 Score=761;Name=V$TCF11MAFG_01 Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs13087397 0.51 0.51 0.445 0.445487 0.5726 0.7004 0.647 0.0613 0.4284 0.59 0.71 0.61 0.06 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001096 NA NA NA NA NA 0.362 NA 5.4274 1109 1 32127953 32127953 G A exonic COL16A1 NA synonymous SNV COL16A1:NM_001856:exon58:c.C3663T:p.D1221D exonic ENSG00000084636 NA synonymous SNV ENSG00000084636:ENST00000440437:exon5:c.C234T:p.D78D,ENSG00000084636:ENST00000373672:exon58:c.C3663T:p.D1221D,ENSG00000084636:ENST00000271069:exon59:c.C3663T:p.D1221D Score=505;Name=lod=151 NA 1p35.2 NA NA NA NA rs2271928 0.51 0.51 0.553 0.471845 0.4016 0.6369 0.4741 0.5174 0.3108 0.42 0.63 0.46 0.52 0.4388 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092488 NA NA 0.398885 0.479081 NA 0.428 NA 5.4273816 1109 19 2939289 2939289 A C exonic ZNF77 NA synonymous SNV ZNF77:NM_021217:exon2:c.T120G:p.L40L exonic ENSG00000175691 NA synonymous SNV ENSG00000175691:ENST00000314531:exon2:c.T120G:p.L40L NA NA 19p13.3 NA NA NA NA rs12608916 0.19 0.19 0.163 0.175719 0.1153 0.371 0.2478 0.1021 0.0849 0.11 0.4 0.19 0.08 0.0032 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.09633 NA NA 0.121047 0.109169 NA 0.014 NA 5.4271196 1109 5 123984763 123984763 C T exonic ZNF608 NA synonymous SNV ZNF608:NM_020747:exon4:c.G1314A:p.A438A exonic ENSG00000168916 NA synonymous SNV ENSG00000168916:ENST00000306315:exon4:c.G1314A:p.A438A,ENSG00000168916:ENST00000504926:exon4:c.G33A:p.A11A,ENSG00000168916:ENST00000509799:exon5:c.G1314A:p.A438A,ENSG00000168916:ENST00000513986:exon5:c.G1314A:p.A438A NA NA 5q23.2 NA Name=FOSL2 Name=4 NA rs7708070 0.76 0.76 0.766 0.761182 0.7505 0.7609 0.5951 0.885 0.7229 0.75 0.76 0.63 0.88 0.7449 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25095 NA NA 0.744237 0.867393 NA 0.841 NA 5.4270296 1109 13 25518456 25518456 C T ncRNA_intronic TPTE2P1 NA NA NA ncRNA_intronic ENSG00000251299,ENSG00000253771 NA NA NA NA NA 13q12.13 NA Name=PAX5-C20,PAX5-N19,MEF2A NA NA rs113328081 0.19 0.19 0.174 0.24361 0.2406 0.0843 0.1628 0.3124 0.3753 0.22 0.09 0.2 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802186 NA NA NA NA NA 0.138 NA 5.4260666 1109 19 6681991 6681991 G A exonic C3 NA synonymous SNV C3:NM_000064:exon35:c.C4311T:p.A1437A exonic ENSG00000125730 NA synonymous SNV ENSG00000125730:ENST00000596548:exon6:c.C432T:p.A144A,ENSG00000125730:ENST00000245907:exon35:c.C4311T:p.A1437A NA NA 19p13.3 NA NA NA NA rs7951 0.09 0.09 0.073 0.091254 0.0746 0.0942 0.0634 0.0991 0.1145 0.08 0.12 0.06 0.09 0.0852 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976064 NA NA 0.080814 0.098956 NA 0.058 NA 5.4260526 1109 1 201060865 201060865 G A exonic CACNA1S NA synonymous SNV CACNA1S:NM_000069:exon5:c.C597T:p.I199I exonic ENSG00000081248 NA synonymous SNV ENSG00000081248:ENST00000362061:exon5:c.C597T:p.I199I,ENSG00000081248:ENST00000367338:exon5:c.C597T:p.I199I Score=624;Name=lod=460 NA 1q32.1 NA NA NA NA rs2296383 0.33 0.33 0.313 0.305112 0.4105 0.3929 0.3963 0.0522 0.3834 0.42 0.39 0.41 0.05 0.3887 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340194 1.340194 NA 0.441744 0.111212 NA 0.355 NA 5.4257226 1109 15 41856543 41856543 A G intronic TYRO3 NA NA NA intronic ENSG00000092445 NA NA NA NA NA 15q15.1 NA Name=ZNF263,Pol2(b),NRSF,CTCF Name=49 NA rs11070339 0.68 0.68 0.654 0.653554 0.5746 0.9762 0.696 0.447 0.6513 0.58 0.98 0.67 0.47 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28495 NA NA NA NA NA 0.536 NA 5.4254 1109 20 1688813 1688813 T C intergenic SIRPG,LOC100289473 dist=50388;dist=65198 NA NA ncRNA_exonic ENSG00000223750 NA NA NA NA NA 20p13 NA Name=GATA-1 Name=10 NA rs513119 0.49 0.49 0.449 0.482428 0.5746 0.3671 0.6354 0.4584 0.4305 0.57 0.39 0.59 0.43 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376031 NA NA NA NA NA 0.543 NA 5.4254 1109 4 39921942 39921942 A G exonic PDS5A NA synonymous SNV PDS5A:NM_001100399:exon7:c.T732C:p.A244A,PDS5A:NM_001100400:exon7:c.T732C:p.A244A exonic ENSG00000121892 NA synonymous SNV ENSG00000121892:ENST00000303538:exon7:c.T732C:p.A244A,ENSG00000121892:ENST00000503396:exon7:c.T732C:p.A244A Score=580;Name=lod=303 NA 4p14 NA NA NA NA rs28449663 0.4 0.4 0.429 0.397364 0.4115 0.6637 0.2882 0.1407 0.5327 0.41 0.65 0.3 0.16 0.4186 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.20456 NA NA 0.411336 0.171111 ID=COSM1485953,COSM447842;OCCURENCE=1(breast) 0.268 NA 5.4252306 1109 6 83949261 83949261 T C exonic ME1 NA synonymous SNV ME1:NM_002395:exon8:c.A909G:p.G303G exonic ENSG00000065833 NA synonymous SNV ENSG00000065833:ENST00000541327:exon6:c.A411G:p.G137G,ENSG00000065833:ENST00000543031:exon7:c.A684G:p.G228G,ENSG00000065833:ENST00000369705:exon8:c.A909G:p.G303G Score=503;Name=lod=147 NA 6q14.2 NA NA NA NA rs1180230 0.43 0.43 0.422 0.432907 0.4155 0.3472 0.4654 0.5991 0.2914 0.41 0.32 0.42 0.6 0.4119 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041083 NA NA 0.41407 0.55901 NA 0.478 NA 5.4251966 1110 13 110838814 110838814 A G exonic COL4A1 NA synonymous SNV COL4A1:NM_001845:exon26:c.T1815C:p.P605P exonic ENSG00000187498 NA synonymous SNV ENSG00000187498:ENST00000375820:exon26:c.T1815C:p.P605P NA NA 13q34 NA NA NA NA rs61749897 0.12 0.12 0.099 0.096246 0.0924 0.1379 0.0793 0.0923 0.0746 0.1 0.16 0.09 0.12 0.0829 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.851619 NA NA 0.067093 0.07921 NA 0.087 NA 5.4242736 1110 11 290891 290891 T C exonic ATHL1 NA synonymous SNV ATHL1:NM_025092:exon4:c.T684C:p.Y228Y exonic ENSG00000142102 NA synonymous SNV ENSG00000142102:ENST00000409479:exon3:c.T684C:p.Y228Y,ENSG00000142102:ENST00000409548:exon4:c.T684C:p.Y228Y,ENSG00000142102:ENST00000409655:exon4:c.T153C:p.Y51Y NA NA 11p15.5 NA NA NA NA rs72636977 0.16 0.16 0.138 0.184904 0.0596 0.3075 0.2219 0.1672 0.1851 0.06 0.31 0.18 0.14 0.1288 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874657 NA NA 0.054302 0.147072 ID=COSM1475356,COSM428886;OCCURENCE=1(breast) 0.036 NA 5.4239646 1110 6 47649222 47649222 T G exonic GPR111 NA synonymous SNV GPR111:NM_153839:exon7:c.T723G:p.S241S exonic ENSG00000164393 NA synonymous SNV ENSG00000164393:ENST00000398742:exon5:c.T723G:p.S241S,ENSG00000164393:ENST00000296862:exon6:c.T927G:p.S309S,ENSG00000164393:ENST00000507065:exon6:c.T723G:p.S241S,ENSG00000164393:ENST00000467205:exon7:c.T723G:p.S241S NA NA 6p12.3 Score=789;Name=V$CART1_01 NA NA NA rs8180544 0.48 0.48 0.489 NA NA NA NA NA NA 0.62 0.3 0.49 0.49 0.5955 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453104 NA NA 0.647252 0.4768 NA 0.435 NA 5.4239146 1110 20 3564672 3564672 C T exonic ATRN NA synonymous SNV ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y exonic ENSG00000088812 NA synonymous SNV ENSG00000088812:ENST00000262919:exon17:c.C2892T:p.Y964Y,ENSG00000088812:ENST00000446916:exon17:c.C2892T:p.Y964Y Score=641;Name=lod=536 NA 20p13 Score=781;Name=V$HTF_01 NA NA NA rs235540 0.82 0.82 0.811 0.824481 0.7187 0.999 0.8141 0.7088 0.9172 0.74 1 0.81 0.74 0.787 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.107863 NA NA 0.737093 0.719246 NA 0.71 NA 5.4238736 1110 1 57422484 57422484 C T exonic C8B NA nonsynonymous SNV C8B:NM_000066:exon3:c.G349A:p.G117R exonic ENSG00000021852 NA nonsynonymous SNV ENSG00000021852:ENST00000371237:exon3:c.G349A:p.G117R,ENSG00000021852:ENST00000535057:exon4:c.G163A:p.G55R,ENSG00000021852:ENST00000543257:exon4:c.G193A:p.G65R Score=439;Name=lod=81 NA 1p32.2 NA NA NA NA rs1013579 0.98 0.98 0.983 0.986422 0.9652 1 0.9683 0.9992 0.9898 0.97 1 0.96 1 0.9773 1 0.8 T 0.0 B 0.0 B 0.014 N 1.000 P . . 1.89 T -0.949 T 0.000 T 0.173 0.647 7.471 -0.165 -0.139 0.535 10.316 0.646669 NA 0.81 0.967209 0.99251 NA 0.978 NA 5.4236244 1110 2 232952286 232952286 A G exonic DIS3L2 NA synonymous SNV DIS3L2:NM_001257281:exon6:c.A456G:p.Q152Q,DIS3L2:NM_001257282:exon6:c.A456G:p.Q152Q,DIS3L2:NM_152383:exon6:c.A456G:p.Q152Q exonic ENSG00000144535 NA synonymous SNV ENSG00000144535:ENST00000409307:exon5:c.A456G:p.Q152Q,ENSG00000144535:ENST00000433430:exon5:c.A456G:p.Q152Q,ENSG00000144535:ENST00000273009:exon6:c.A456G:p.Q152Q,ENSG00000144535:ENST00000325385:exon6:c.A456G:p.Q152Q,ENSG00000144535:ENST00000360410:exon6:c.A456G:p.Q152Q,ENSG00000144535:ENST00000390005:exon6:c.A456G:p.Q152Q,ENSG00000144535:ENST00000409401:exon6:c.A456G:p.Q152Q,ENSG00000144535:ENST00000445090:exon6:c.A456G:p.Q152Q NA NA 2q37.1 NA NA NA NA rs11887184 0.1 0.1 0.098 0.11242 0.0775 0.0327 0.1138 0.1989 0.1125 0.08 0.03 0.11 0.22 0.0961 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072019 NA NA 0.070007 0.177958 NA 0.08 NA 5.4230596 1110 4 47887991 47887991 G A exonic NFXL1 NA synonymous SNV NFXL1:NM_152995:exon13:c.C1569T:p.T523T exonic ENSG00000170448 NA synonymous SNV ENSG00000170448:ENST00000329043:exon13:c.C1569T:p.T523T,ENSG00000170448:ENST00000381538:exon13:c.C1569T:p.T523T,ENSG00000170448:ENST00000464756:exon13:c.C1569T:p.T523T,ENSG00000170448:ENST00000507489:exon13:c.C1569T:p.T523T Score=512;Name=lod=161 NA 4p12 Score=991;Name=V$AREB6_04 NA NA NA rs6818556 0.73 0.73 0.722 0.716653 0.7505 0.6875 0.7478 0.6551 0.773 0.77 0.72 0.75 0.65 0.7441 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521352 NA NA 0.749186 0.682478 NA 0.768 NA 5.4228806 1110 6 30313227 30313227 G A intronic RPP21,TRIM39-RPP21 NA NA NA intronic ENSG00000241370,ENSG00000248167 NA NA NA NA NA 6p22.1 NA Name=Egr-1,Pol2,ZNF263,HA-E2F1,E2F6_(H-50),Pol2(b),CTCF,CCNT2 Name=140 NA rs5030611 0.21 0.21 0.154 0.236022 0.165 0.4425 0.3228 0.0212 0.3252 0.16 0.41 0.25 0.03 0.2365 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686731 1.686731 NA 0.175775 0.059603 NA 0.225 NA 5.422725 1110 6 24547606 24547606 G A intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA Name=Rad21,CTCF_(C-20),USF-1,CTCF,SMC3_(ab9263),CTCF_(SC-5916) Name=22 NA rs2817245 0.21 0.21 0.204 0.228834 0.2078 0.1071 0.1614 0.3971 0.1963 0.2 0.1 0.19 0.37 0.208 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063266 NA NA 0.161744 0.363141 NA 0.283 NA 5.422456 1110 2 30976058 30976058 C T exonic CAPN13 NA synonymous SNV CAPN13:NM_144575:exon10:c.G948A:p.S316S exonic ENSG00000162949 NA synonymous SNV ENSG00000162949:ENST00000295055:exon10:c.G948A:p.S316S,ENSG00000162949:ENST00000534090:exon10:c.G948A:p.S316S,ENSG00000162949:ENST00000458085:exon11:c.G948A:p.S316S Score=431;Name=lod=75 NA 2p23.1 NA NA NA NA rs2926304 0.39 0.39 0.373 0.383786 0.4085 0.5109 0.4928 0.1475 0.4693 0.42 0.52 0.46 0.16 0.4356 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34843 NA NA 0.400655 0.173097 ID=COSM148826;OCCURENCE=1(stomach) 0.399 NA 5.4219116 1110 20 1688844 1688844 T C intergenic SIRPG,LOC100289473 dist=50419;dist=65167 NA NA ncRNA_exonic ENSG00000223750 NA NA NA NA NA 20p13 NA Name=GATA-1,GATA2_(CG2-96) Name=10 NA rs513201 0.5 0.5 0.471 0.490815 0.5785 0.3681 0.6455 0.4675 0.4489 0.57 0.39 0.6 0.44 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317813 NA NA NA NA NA 0.572 NA 5.4215 1110 22 20891259 20891259 C A intronic MED15 NA NA NA intronic ENSG00000099917 NA NA NA NA NA 22q11.21 NA Name=p300,NRSF Name=5 NA rs2269830 0.5 0.5 0.465 0.507188 0.5785 0.4345 0.7075 0.3646 0.5593 0.56 0.41 0.67 0.38 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109164 NA NA NA NA NA 0.536 NA 5.4215 1110 1 150484004 150484004 G A exonic ECM1 NA synonymous SNV ECM1:NM_001202858:exon7:c.G861A:p.T287T,ECM1:NM_004425:exon7:c.G780A:p.T260T exonic ENSG00000143369 NA synonymous SNV ENSG00000143369:ENST00000369047:exon7:c.G780A:p.T260T,ENSG00000143369:ENST00000369049:exon7:c.G861A:p.T287T NA NA 1q21.3 NA NA NA NA rs11801190 0.1 0.1 0.106 0.0994409 0.0716 0.001 0.0548 0.2761 0.0225 0.08 0.0017 0.05 0.27 0.0849 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136207 NA NA 0.088953 0.222651 NA 0.101 NA 5.4212136 1110 1 161654948 161654948 T C ncRNA_exonic RPL31P11 NA NA NA ncRNA_exonic ENSG00000213075 NA NA NA Score=719;Name=lod=1112 NA 1q23.3 NA NA NA NA rs6686673 0.13 0.13 0.109 0.108826 0.2455 0.0605 0.1254 0.0091 0.1411 0.25 0.07 0.12 0.02 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064801 NA NA NA NA NA 0.109 NA 5.4211666 1110 15 78215244 78215244 G C ncRNA_intronic LOC645752 NA NA NA ncRNA_intronic ENSG00000260776 NA NA NA Score=578;Name=lod=297 NA 15q24.3 NA NA NA NA rs28754523 0.14 0.14 0.107 0.112021 0.2455 0.0526 0.1023 0.0598 0.1135 0.25 0.06 0.11 0.09 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.878476 NA NA NA NA NA 0.101 NA 5.4211666 1110 11 133805585 133805585 C T exonic IGSF9B NA synonymous SNV IGSF9B:NM_001277285:exon7:c.G894A:p.S298S exonic ENSG00000080854 NA synonymous SNV ENSG00000080854:ENST00000321016:exon7:c.G894A:p.S298S,ENSG00000080854:ENST00000533871:exon7:c.G894A:p.S298S NA NA 11q25 NA NA NA Score=70;Name=489583_0_+_70 rs329637 0.34 0.34 0.318 0.299121 0.4334 0.3284 0.33 0.143 0.32 0.43 0.35 0.37 0.17 0.3992 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229414 NA NA 0.413116 0.197697 ID=COSM428723;OCCURENCE=1(breast) 0.232 NA 5.4209506 1110 20 47273543 47273543 G C intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(SC-5916) Name=19 NA rs7271528 0.17 0.17 0.12 0.172923 0.1839 0.2054 0.2608 0.034 0.2536 0.18 0.22 0.26 0.03 0.2276 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083534 NA NA 0.167875 0.071888 NA 0.13 NA 5.420625 1110 1 238090257 238090257 A G ncRNA_exonic LOC100130331 NA NA NA ncRNA_exonic ENSG00000237250,ENSG00000243781 NA NA NA Score=812;Name=lod=2667 NA 1q43 NA NA NA NA rs548164 0.41 0.41 0.426 0.458466 0.2465 0.4355 0.3156 0.7519 0.4049 0.23 0.43 0.33 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743188 NA NA NA NA NA 0.42 NA 5.4201666 1110 1 238090514 238090514 T A ncRNA_exonic LOC100130331 NA NA NA ncRNA_exonic ENSG00000237250,ENSG00000243781 NA NA NA Score=812;Name=lod=2667 NA 1q43 NA NA NA NA rs545540 0.41 0.41 0.397 0.452276 0.2465 0.4355 0.3141 0.7292 0.4049 0.23 0.43 0.33 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637326 NA NA NA NA NA 0.413 NA 5.4201666 1110 1 238090615 238090615 T C ncRNA_exonic LOC100130331 NA NA NA ncRNA_exonic ENSG00000237250,ENSG00000243781 NA NA NA Score=812;Name=lod=2667 NA 1q43 NA NA NA NA rs2790341 NA NA 0.24 0.452276 0.2465 0.4355 0.3141 0.7292 0.4049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974712 NA NA NA NA NA NA NA 5.4201666 1110 2 219508988 219508988 T C exonic ZNF142 NA nonsynonymous SNV ZNF142:NM_001105537:exon8:c.A2251G:p.S751G exonic ENSG00000115568 NA nonsynonymous SNV ENSG00000115568:ENST00000411696:exon7:c.A2251G:p.S751G,ENSG00000115568:ENST00000449707:exon8:c.A2251G:p.S751G NA NA 2q35 NA NA NA NA rs3770214 0.75 0.75 0.735 0.764776 0.6223 0.9425 0.6614 0.8139 0.7352 0.63 0.94 0.68 0.76 0.6711 0.94 0.63 T 0.0 B 0.0 B 0.767 N 1.000 P -0.695 N 2.83 T -1.051 T 0.000 T 0.006 -1.543 0.015 1.43 -0.103 0.037 5.841 -1.542824 NA 0.48 0.62 0.798158 NA 0.63 NA 5.4199334 1110 4 110737389 110737389 T C exonic GAR1 NA synonymous SNV GAR1:NM_018983:exon2:c.T69C:p.G23G,GAR1:NM_032993:exon2:c.T69C:p.G23G exonic ENSG00000109534 NA synonymous SNV ENSG00000109534:ENST00000226796:exon2:c.T69C:p.G23G,ENSG00000109534:ENST00000394631:exon2:c.T69C:p.G23G Score=588;Name=lod=327 NA 4q25 NA Name=E2F6_(H-50),ELF1_(SC-631) NA NA rs2276326 0.76 0.76 0.735 0.771166 0.7505 0.9157 0.585 0.7292 0.8323 0.74 0.91 0.6 0.71 0.7539 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605097 NA NA 0.742674 0.708125 ID=COSM1131305;OCCURENCE=1(prostate) 0.688 NA 5.4195926 1110 6 11723409 11723409 G A intronic ADTRP NA NA NA intronic ENSG00000111863 NA NA NA NA NA 6p24.1 NA Name=TAF1,MEF2A Name=5 NA rs926364 0.42 0.42 0.403 0.389377 0.5815 0.2837 0.5879 0.1959 0.4213 0.57 0.3 0.57 0.22 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646922 NA NA NA NA NA 0.355 NA 5.4185 1110 8 48504629 48504629 G C intronic KIAA0146 NA NA NA intronic ENSG00000164808 NA NA NA Score=621;Name=lod=445 NA 8q11.21 NA NA Name=9 NA rs10958058 0.48 0.48 0.439 0.382987 0.5815 0.6319 0.4885 0.0696 0.271 0.58 0.67 0.47 0.1 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.830308 2.830308 NA NA NA NA 0.478 NA 5.4185 1110 6 35755658 35755658 A G exonic CLPSL1 NA synonymous SNV CLPSL1:NM_001010886:exon3:c.A237G:p.Q79Q exonic ENSG00000204140 NA synonymous SNV ENSG00000204140:ENST00000373861:exon3:c.A237G:p.Q79Q,ENSG00000204140:ENST00000542261:exon3:c.A234G:p.Q78Q NA NA 6p21.31 NA Name=HNF4G_(SC-6558),HNF4A_(H-171) NA NA rs12211728 0.36 0.36 0.333 0.364816 0.4324 0.2649 0.3847 0.3298 0.4315 0.43 0.24 0.39 0.37 0.4016 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604051 NA NA 0.414602 0.313235 NA 0.341 NA 5.4180646 1110 2 228197238 228197238 G A exonic MFF NA synonymous SNV MFF:NM_001277066:exon3:c.G285A:p.T95T,MFF:NM_001277068:exon3:c.G285A:p.T95T,MFF:NM_001277062:exon4:c.G285A:p.T95T,MFF:NM_001277063:exon4:c.G285A:p.T95T,MFF:NM_001277064:exon4:c.G285A:p.T95T,MFF:NM_001277065:exon4:c.G285A:p.T95T,MFF:NM_001277067:exon4:c.G135A:p.T45T,MFF:NM_001277061:exon5:c.G363A:p.T121T,MFF:NM_020194:exon5:c.G363A:p.T121T exonic ENSG00000168958 NA synonymous SNV ENSG00000168958:ENST00000409565:exon3:c.G285A:p.T95T,ENSG00000168958:ENST00000452930:exon3:c.G285A:p.T95T,ENSG00000168958:ENST00000304593:exon4:c.G285A:p.T95T,ENSG00000168958:ENST00000337110:exon4:c.G285A:p.T95T,ENSG00000168958:ENST00000349901:exon4:c.G285A:p.T95T,ENSG00000168958:ENST00000354503:exon4:c.G285A:p.T95T,ENSG00000168958:ENST00000353339:exon5:c.G363A:p.T121T,ENSG00000168958:ENST00000392059:exon5:c.G363A:p.T121T,ENSG00000168958:ENST00000409616:exon5:c.G285A:p.T95T NA NA 2q36.3 NA NA NA NA rs11557342 0.07 0.07 0.06 0.0890575 0.0716 0.1022 0.1081 0.0741 0.1002 0.07 0.07 0.11 0.06 0.09 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622858 NA NA 0.087093 0.074444 ID=COSM149078;OCCURENCE=1(stomach) 0.051 NA 5.4179736 1110 16 8868776 8868776 C A exonic ABAT NA synonymous SNV ABAT:NM_000663:exon13:c.C984A:p.V328V,ABAT:NM_001127448:exon13:c.C984A:p.V328V,ABAT:NM_020686:exon13:c.C984A:p.V328V exonic ENSG00000183044 NA synonymous SNV ENSG00000183044:ENST00000268251:exon13:c.C984A:p.V328V,ENSG00000183044:ENST00000396600:exon13:c.C984A:p.V328V,ENSG00000183044:ENST00000425191:exon13:c.C984A:p.V328V,ENSG00000183044:ENST00000567812:exon13:c.C1029A:p.V343V,ENSG00000183044:ENST00000569156:exon13:c.C984A:p.V328V Score=557;Name=lod=245 NA 16p13.2 NA NA NA NA rs1641022 0.34 0.34 0.296 0.317492 0.4374 0.4167 0.3429 0.0552 0.4284 0.42 0.43 0.36 0.08 0.3856 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222843 NA NA 0.425698 0.120847 NA 0.254 NA 5.4179686 1110 10 125521590 125521590 G A exonic CPXM2 NA synonymous SNV CPXM2:NM_198148:exon11:c.C1575T:p.Y525Y exonic ENSG00000121898 NA synonymous SNV ENSG00000121898:ENST00000241305:exon11:c.C1575T:p.Y525Y Score=469;Name=lod=107 NA 10q26.13 Score=753;Name=V$PPARA_01 NA NA NA rs10794567 0.67 0.67 0.638 0.64996 0.7744 0.5665 0.7435 0.6112 0.5941 0.78 0.55 0.74 0.59 0.7217 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148787 NA NA 0.752907 0.626192 NA 0.638 NA 5.4176596 1110 1 112106342 112106342 C T intronic ADORA3 NA NA NA intronic ENSG00000116473,ENSG00000121933 NA NA NA NA NA 1p13.2 NA Name=eGFP-JunD,c-Fos,eGFP-JunB,p300,eGFP-FOS Name=88 NA rs1591711 0.53 0.53 0.51 0.530152 0.5825 0.5615 0.5908 0.3722 0.6145 0.58 0.56 0.58 0.39 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.300961 2.300961 NA NA NA NA 0.514 NA 5.4175 1110 8 144239859 144239859 A G exonic LY6H NA synonymous SNV LY6H:NM_001135655:exon4:c.T294C:p.C98C,LY6H:NM_002347:exon4:c.T231C:p.C77C,LY6H:NM_001130478:exon5:c.T294C:p.C98C exonic ENSG00000176956 NA synonymous SNV ENSG00000176956:ENST00000342752:exon4:c.T294C:p.C98C,ENSG00000176956:ENST00000430474:exon4:c.T231C:p.C77C,ENSG00000176956:ENST00000414417:exon5:c.T294C:p.C98C NA NA 8q24.3 Score=809;Name=V$CEBP_C NA NA NA rs10109061 0.45 0.45 0.445 0.438099 0.4036 0.2827 0.3343 0.7156 0.3323 0.4 0.3 0.37 0.74 0.4095 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.744723 NA NA 0.436744 0.6532 ID=COSM150558;OCCURENCE=1(stomach) 0.58 NA 5.4168226 1110 1 179533915 179533915 G A exonic NPHS2 NA synonymous SNV NPHS2:NM_014625:exon2:c.C288T:p.S96S exonic ENSG00000116218 NA synonymous SNV ENSG00000116218:ENST00000367615:exon2:c.C288T:p.S96S,ENSG00000116218:ENST00000367616:exon2:c.C288T:p.S96S NA NA 1q25.2 NA NA NA NA rs3738423 0.08 0.08 0.069 0.0710863 0.0865 0.0952 0.0519 0.0938 0.0133 0.09 0.08 0.05 0.08 0.0745 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.553966 NA NA 0.089419 0.08897 NA 0.08 NA 5.4162476 1110 8 6735431 6735431 C T UTR5 DEFB1 NM_005218:c.-52G>A NA NA ncRNA_UTR5 ENSG00000164825 NA NA NA NA NA 8p23.1 NA Name=Max,GTF2F1_(RAP-74),CEBPB,Mxi1_(bHLH),AP-2gamma,TBP,p300_(N-15),STAT3 Name=30 NA rs1799946 0.42 0.42 0.44 0.446286 0.3569 0.4712 0.2968 0.5877 0.4274 0.35 0.47 0.35 0.52 0.3703 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594256 NA NA 0.356864 0.553504 NA 0.377 NA 5.415936 1110 6 37514461 37514461 T C intergenic CCDC167,MIR4462 dist=46761;dist=8680 NA NA ncRNA_exonic ENSG00000229559 NA NA NA Score=630;Name=lod=483 NA 6p21.2 NA NA Name=2 NA rs9296225 0.62 0.62 0.609 0.608826 0.5845 0.751 0.4409 0.7171 0.4601 0.57 0.73 0.43 0.69 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075358 NA NA NA NA NA 0.587 NA 5.4155 1110 19 36584904 36584904 C T intronic WDR62 NA NA NA intronic ENSG00000075702 NA NA NA Score=259;Name=lod=15 NA 19q13.12 NA NA Name=5 NA rs2301737 0.14 0.14 0.124 0.125 0.1948 0.1726 0.1311 0.0121 0.1524 0.19 0.18 0.15 0.02 0.1789 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.228923 NA NA 0.210814 0.044258 ID=COSN165793;OCCURENCE=1(breast) 0.232 NA 5.415486 1110 6 56297568 56297568 G A ncRNA_intronic RNU6-71P NA NA NA ncRNA_exonic ENSG00000220666 NA NA NA Score=811;Name=lod=2624 NA 6p12.1 NA NA NA NA rs6911502 0.21 0.21 0.2 0.217452 0.2515 0.255 0.2392 0.0734 0.3231 0.24 0.24 0.27 0.07 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261096 NA NA NA NA NA 0.254 NA 5.4151666 1111 17 79409710 79409710 G A exonic BAHCC1 NA unknown UNKNOWN exonic ENSG00000171282 NA synonymous SNV ENSG00000171282:ENST00000307745:exon9:c.G1335A:p.K445K Score=369;Name=lod=42 NA 17q25.3 NA NA NA NA rs12943867 0.21 0.21 0.175 0.179712 0.336 0.004 0.1988 0.2307 0.1176 0.34 NA 0.27 0.2 0.2704 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763385 NA NA 0.311954 0.251027 ID=COSM437776;OCCURENCE=2(breast) 0.159 NA 5.4149793 1111 3 98503683 98503683 C T intronic ST3GAL6 NA NA NA intronic ENSG00000064225 NA NA NA NA NA 3q12.1 NA Name=STAT3 Name=45 NA rs704585 0.62 0.62 0.597 0.603834 0.5855 0.7768 0.6354 0.4198 0.6708 0.57 0.81 0.65 0.46 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127606 NA NA NA NA NA 0.616 NA 5.4145 1111 17 39742492 39742492 G C intronic KRT14 NA NA NA intronic ENSG00000186847 NA NA NA NA NA 17q21.2 NA Name=Pol2(b) Name=3 NA rs9915113 0.67 0.67 0.647 0.680711 0.5855 0.9425 0.7248 0.4788 0.7505 0.58 0.95 0.69 0.48 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48119 NA NA NA NA NA 0.616 NA 5.4145 1111 19 8322069 8322069 A G intronic CERS4 NA NA NA intronic ENSG00000090661 NA NA NA NA NA 19p13.2 NA Name=ELF1_(SC-631),Egr-1 Name=17 NA rs36249 0.68 0.68 0.633 0.703674 0.5855 0.6508 0.6916 0.7973 0.7618 0.59 0.68 0.67 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084667 NA NA NA NA NA 0.739 NA 5.4145 1111 19 41903671 41903671 A G upstream BCKDHA,EXOSC5 NA NA NA UTR5 ENSG00000248098 ENST00000269980:c.-62A>G NA NA NA NA 19q13.2 NA Name=POU2F2,GATA-1,TAF1,YY1_(C-20),NRSF,Pol2,Pol2(phosphoS2),Oct-2,Pol2(b),AP-2alpha,Sin3Ak-20,Pol2-4H8,KAP1,YY1,c-Myc,HEY1,TBP Name=30 NA rs892044 0.56 0.56 0.579 0.572883 0.5855 0.4286 0.4669 0.7095 0.5992 0.56 0.47 0.53 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687122 1.687122 NA NA NA NA 0.659 NA 5.4145 1111 3 111719786 111719786 A T exonic TAGLN3 NA synonymous SNV TAGLN3:NM_001008273:exon2:c.A348T:p.L116L,TAGLN3:NM_001008272:exon3:c.A348T:p.L116L,TAGLN3:NM_013259:exon3:c.A348T:p.L116L exonic ENSG00000144834 NA synonymous SNV ENSG00000144834:ENST00000469385:exon1:c.A168T:p.L56L,ENSG00000144834:ENST00000455401:exon2:c.A348T:p.L116L,ENSG00000144834:ENST00000486460:exon2:c.A96T:p.L32L,ENSG00000144834:ENST00000273368:exon3:c.A348T:p.L116L,ENSG00000144834:ENST00000393917:exon3:c.A348T:p.L116L,ENSG00000144834:ENST00000478951:exon3:c.A348T:p.L116L NA NA 3q13.2 NA NA NA NA rs2292583 0.12 0.12 0.093 0.132188 0.0716 0.3026 0.1643 0.0129 0.1575 0.07 0.27 0.13 0.02 0.1023 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73788 NA NA 0.078605 0.03064 NA 0.08 NA 5.4141616 1111 19 4512613 4512613 T G exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon3:c.A1317C:p.T439T exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon3:c.A1317C:p.T439T NA NA 19p13.3 NA NA NA NA rs74327986 0.08 0.08 0.065 0.108626 0.1004 0.001 0.0865 0.261 0.0378 0.08 0.0017 0.05 0.18 0.0762 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087104 NA NA 0.076279 0.170039 NA 0.08 NA 5.4137876 1111 5 1593246 1593246 C T ncRNA_exonic SDHAP3 NA NA NA ncRNA_exonic ENSG00000185986 NA NA NA Score=596;Name=lod=352 NA 5p15.33 NA NA NA NA rs6869310 0.09 0.09 0.067 0.122404 0.1292 0.0069 0.1037 0.2511 0.0736 0.09 0.0017 0.11 0.17 0.1237 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043504 NA 0.61 NA NA NA 0.022 NA 5.4137666 1111 1 11907603 11907603 G A ncRNA_exonic NPPA-AS1 NA NA NA ncRNA_exonic ENSG00000242349 NA NA NA NA NA 1p36.22 NA NA NA NA rs5064 0.1 0.1 0.102 0.129593 0.0765 0.0079 0.0836 0.3185 0.0869 0.07 0.01 0.08 0.27 0.0894 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208232 NA NA 0.087674 0.287108 NA 0.152 CLINSIG=non-pathogenic;CLNDBN=Cardiac_arrhythmia;CLNREVSTAT=single;CLNACC=RCV000030342.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C0003811:115000 5.4130926 1111 19 4511365 4511365 C G exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon3:c.G2565C:p.V855V exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon3:c.G2565C:p.V855V NA NA 19p13.3 NA NA NA NA rs116973517 0.06 0.06 0.048 0.0457268 0.0954 0.001 0.0692 0.0522 0.0153 0.1 0.0017 0.08 0.04 0.0664 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142295 NA NA 0.092073 0.047963 NA 0.029 NA 5.4127936 1111 17 61559923 61559923 C T exonic ACE NA synonymous SNV ACE:NM_000789:exon8:c.C1215T:p.P405P exonic ENSG00000159640 NA synonymous SNV ENSG00000159640:ENST00000290866:exon8:c.C1215T:p.P405P,ENSG00000159640:ENST00000428043:exon8:c.C1215T:p.P405P,ENSG00000159640:ENST00000538928:exon8:c.C1215T:p.P405P NA NA 17q23.3 NA Name=c-Myc NA NA rs4309 0.42 0.42 0.376 0.423522 0.3877 0.6468 0.5519 0.1104 0.5624 0.38 0.66 0.52 0.13 0.4492 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.173365 NA NA 0.417093 0.176804 NA 0.406 NA 5.4126736 1111 17 2929392 2929392 G A exonic RAP1GAP2 NA synonymous SNV RAP1GAP2:NM_001100398:exon19:c.G1797A:p.P599P,RAP1GAP2:NM_015085:exon20:c.G1842A:p.P614P exonic ENSG00000132359 NA synonymous SNV ENSG00000132359:ENST00000366401:exon19:c.G1797A:p.P599P,ENSG00000132359:ENST00000254695:exon20:c.G1842A:p.P614P,ENSG00000132359:ENST00000540393:exon20:c.G1785A:p.P595P,ENSG00000132359:ENST00000542807:exon20:c.G1842A:p.P614P Score=610;Name=lod=401 NA 17p13.3 NA NA NA NA rs55904912 0.43 0.43 0.401 0.428514 0.4066 0.5466 0.4986 0.2451 0.5276 0.44 0.56 0.5 0.24 0.4395 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.463403 1.463403 NA 0.408493 0.267292 ID=COSM148146;OCCURENCE=1(stomach) 0.478 NA 5.4120736 1111 2 10059770 10059770 G T exonic TAF1B NA nonsynonymous SNV TAF1B:NM_005680:exon14:c.G1386T:p.E462D exonic ENSG00000115750 NA nonsynonymous SNV ENSG00000115750:ENST00000263663:exon14:c.G1386T:p.E462D,ENSG00000115750:ENST00000396242:exon14:c.G621T:p.E207D NA NA 2p25.1 NA NA NA NA rs1820965 0.49 0.49 0.466 0.441494 0.667 0.4792 0.5389 0.1309 0.5215 0.65 0.51 0.57 0.15 0.5827 0.67 . . 0.0 B 0.0 B 0.324 N 1.000 P -1.7 N 1.13 T -0.965 T 0.000 T 0.034 -1.277 0.043 1.66 0.107 0.470 1.416 -1.277245 NA 0.9 0.671628 0.210168 NA 0.529 NA 5.4120054 1111 5 1593266 1593266 T C ncRNA_exonic SDHAP3 NA NA NA ncRNA_exonic ENSG00000185986 NA NA NA Score=596;Name=lod=352 NA 5p15.33 NA NA NA NA rs6898538 0.1 0.1 0.064 0.123403 0.1302 0.0069 0.1037 0.2542 0.0736 0.1 0.0017 0.12 0.19 0.1249 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519126 NA 1 NA NA NA 0.022 NA 5.4115666 1111 21 42817582 42817582 A G intronic MX1 NA NA NA intronic ENSG00000157601 NA NA NA NA NA 21q22.3 NA Name=Pol2-4H8,Pol2 Name=6 NA rs469288 0.46 0.46 0.421 0.477037 0.5885 0.3482 0.4683 0.4433 0.547 0.56 0.3 0.49 0.44 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441927 NA NA NA NA NA 0.507 NA 5.4115 1111 10 44284687 44284687 C T ncRNA_exonic HNRNPA3P1 NA NA NA ncRNA_exonic ENSG00000226790 NA NA NA Score=768;Name=lod=1762 NA 10q11.21 NA NA NA NA rs10793494 0.39 0.39 0.334 0.366414 0.2555 0.6022 0.3357 0.3563 0.273 0.26 0.6 0.34 0.37 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679358 NA NA NA NA NA 0.29 NA 5.4111666 1111 11 118873987 118873987 T C ncRNA_exonic RPL23AP64 NA NA NA ncRNA_exonic ENSG00000240970 NA NA NA Score=687;Name=lod=828 NA 11q23.3 NA NA NA NA rs9645664 0.22 0.22 0.225 0.255591 0.2555 0.0694 0.232 0.3555 0.3292 0.24 0.05 0.24 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100699 NA NA NA NA NA 0.304 NA 5.4111666 1111 8 24256470 24256470 C T exonic ADAMDEC1 NA synonymous SNV ADAMDEC1:NM_001145272:exon8:c.C609T:p.S203S,ADAMDEC1:NM_014479:exon9:c.C846T:p.S282S,ADAMDEC1:NM_001145271:exon10:c.C609T:p.S203S exonic ENSG00000134028 NA synonymous SNV ENSG00000134028:ENST00000522298:exon8:c.C609T:p.S203S,ENSG00000134028:ENST00000256412:exon9:c.C846T:p.S282S,ENSG00000134028:ENST00000538205:exon10:c.C609T:p.S203S NA NA 8p21.2 NA NA Name=2 NA rs2291577 0.29 0.29 0.263 0.292931 0.4235 0.2034 0.4539 0.0968 0.4018 0.43 0.21 0.42 0.09 0.3924 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155165 NA NA 0.439884 0.152973 NA 0.217 NA 5.4108826 1111 19 20011811 20011811 T C UTR5 ZNF93 NM_031218:c.-87T>C NA NA ncRNA_exonic ENSG00000267268 NA NA NA NA NA 19p12 NA Name=YY1,Pol2-4H8,Pol2(b),TBP,HEY1,Pol2,E2F6,TAF7_(SQ-8),NF-YA,TAF1,E2F6_(H-50),E2F4,GTF2F1_(RAP-74),CHD2_(N-1250),NF-YB NA NA rs7253941 0.21 0.21 0.217 0.240216 0.0467 0.1895 0.1974 0.5628 0.0859 0.04 0.17 0.18 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290576 NA NA 0.042426 0.520954 NA 0.261 NA 5.410874 1111 2 37872871 37872871 C T UTR3 CDC42EP3 NM_006449:c.*95G>A,NM_001270438:c.*95G>A,NM_001270437:c.*95G>A,NM_001270436:c.*95G>A NA NA ncRNA_UTR3 ENSG00000163171 NA NA NA NA NA 2p22.2 NA Name=c-Jun,c-Fos NA NA rs15628 0.07 0.07 0.056 0.0804712 0.0895 0.0952 0.0764 0.0182 0.1431 0.08 0.09 0.08 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.054414 NA NA NA NA NA 0.051 NA 5.4105 1111 12 56117570 56117570 C T ncRNA_intronic BLOC1S1-RDH5 NA NA NA UTR3 ENSG00000258311 ENST00000550412:c.*2080C>T NA NA NA NA 12q13.2 NA NA Name=5 NA rs3138136 0.04 0.04 0.038 0.0389377 0.0895 NA 0.0548 0.0045 0.0624 0.08 NA 0.05 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.6111 1.6111 NA NA NA NA 0.036 NA 5.4105 1111 17 76198587 76198587 A G exonic AFMID NA synonymous SNV AFMID:NM_001010982:exon3:c.A162G:p.T54T,AFMID:NM_001145526:exon3:c.A162G:p.T54T exonic ENSG00000183077 NA synonymous SNV ENSG00000183077:ENST00000327898:exon3:c.A162G:p.T54T,ENSG00000183077:ENST00000409257:exon3:c.A162G:p.T54T,ENSG00000183077:ENST00000586542:exon3:c.A162G:p.T54T,ENSG00000183077:ENST00000588199:exon3:c.A162G:p.T54T,ENSG00000183077:ENST00000591256:exon3:c.A162G:p.T54T NA NA 17q25.3 NA NA NA NA rs72897838 0.07 0.07 0.074 0.0599042 0.0845 0.001 0.062 0.0802 0.0665 0.09 0.0017 0.09 0.08 0.0728 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031716 NA NA 0.099419 0.086473 NA NA NA 5.4099476 1111 17 79268562 79268562 A G intronic SLC38A10 NA NA NA intronic ENSG00000157637 NA NA NA NA NA 17q25.3 NA Name=TAF1,E2F6_(H-50),Pol2,Egr-1,ZBTB7A_(SC-34508) Name=22 NA rs8064597 0.57 0.57 0.572 0.567093 0.5905 0.3175 0.5259 0.9198 0.3528 0.58 0.31 0.52 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082857 NA NA NA NA NA 0.717 NA 5.4095 1111 6 128040839 128040839 T C exonic THEMIS NA nonsynonymous SNV THEMIS:NM_001010923:exon5:c.A1888G:p.I630V,THEMIS:NM_001164687:exon5:c.A1783G:p.I595V,THEMIS:NM_001164685:exon6:c.A2005G:p.I669V exonic ENSG00000172673 NA nonsynonymous SNV ENSG00000172673:ENST00000368248:exon5:c.A1888G:p.I630V,ENSG00000172673:ENST00000537166:exon5:c.A1783G:p.I595V,ENSG00000172673:ENST00000368250:exon6:c.A1651G:p.I551V,ENSG00000172673:ENST00000543064:exon6:c.A2005G:p.I669V NA NA 6q22.33 NA NA NA NA rs675531 0.5 0.5 0.528 0.457867 0.6789 0.1081 0.4035 0.705 0.2955 0.68 0.12 0.45 0.7 0.5627 0.7 1 T 0.0 B 0.0 B 0.032 N 1.000 P -0.69 N 2.29 T -1.018 T 0.004 T 0.048 -2.289 0.004 -0.674 -0.265 -0.546 0.673 -2.289485 NA 1 0.682442 0.701316 ID=COSM150180;OCCURENCE=1(stomach) 0.594 NA 5.4092914 1111 20 34535373 34535373 T C intronic PHF20 NA NA NA intronic ENSG00000025293 NA NA NA NA NA 20q11.23 NA Name=CTCF Name=62 NA rs6088971 0.24 0.24 0.253 0.30611 0.1829 0.1855 0.1859 0.4864 0.3988 0.18 0.16 0.23 0.44 0.2253 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702972 NA NA 0.182791 0.422379 NA 0.254 NA 5.409009 1111 1 152191051 152191051 G A exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.C3054T:p.S1018S exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C3054T:p.S1018S NA NA 1q21.3 NA NA NA NA rs74868796 0.04 0.04 0.023 0.029353 0.0994 NA 0.0461 0.0023 0.0123 0.09 NA 0.07 0.002 0.0695 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279762 NA NA 0.088837 0.016114 NA NA NA 5.4089296 1111 15 90246336 90246336 A G exonic WDR93 NA synonymous SNV WDR93:NM_020212:exon3:c.A459G:p.L153L exonic ENSG00000140527 NA synonymous SNV ENSG00000140527:ENST00000268130:exon3:c.A459G:p.L153L,ENSG00000140527:ENST00000558000:exon3:c.A459G:p.L153L,ENSG00000140527:ENST00000560294:exon3:c.A459G:p.L153L Score=419;Name=lod=67 NA 15q26.1 NA NA NA NA rs16974175 0.36 0.36 0.364 0.392173 0.4016 0.2063 0.3631 0.5061 0.4407 0.4 0.22 0.39 0.44 0.4092 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126826 NA NA 0.447546 0.486818 NA 0.522 NA 5.4083206 1111 5 1593326 1593326 G A ncRNA_exonic SDHAP3 NA NA NA ncRNA_exonic ENSG00000185986 NA NA NA Score=596;Name=lod=352 NA 5p15.33 NA NA NA NA rs6872202 0.11 0.11 0.096 0.123403 0.1302 0.0069 0.1037 0.2542 0.0736 0.12 0.0017 0.12 0.24 0.1282 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636185 NA 0 NA NA NA 0.123 NA 5.4082666 1111 1 3800242 3800242 A G exonic DFFB NA synonymous SNV DFFB:NM_004402:exon7:c.A954G:p.P318P exonic ENSG00000169598 NA synonymous SNV ENSG00000169598:ENST00000378209:exon7:c.A954G:p.P318P NA NA 1p36.32 NA NA Name=2 NA rs3205087 0.37 0.37 0.376 0.355831 0.4105 0.3482 0.3256 0.3124 0.3875 0.41 0.35 0.37 0.33 0.3971 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085682 NA NA 0.451047 0.338402 NA 0.428 NA 5.4080196 1111 4 73956736 73956736 G A exonic ANKRD17 NA synonymous SNV ANKRD17:NM_198889:exon28:c.C5856T:p.L1952L,ANKRD17:NM_032217:exon29:c.C6609T:p.L2203L exonic ENSG00000132466 NA synonymous SNV ENSG00000132466:ENST00000330838:exon28:c.C5856T:p.L1952L,ENSG00000132466:ENST00000358602:exon29:c.C6609T:p.L2203L,ENSG00000132466:ENST00000509867:exon29:c.C6270T:p.L2090L Score=605;Name=lod=383 NA 4q13.3 NA NA NA NA rs6855349 0.35 0.35 0.363 0.351837 0.4483 0.3849 0.2968 0.2375 0.4121 0.45 0.35 0.29 0.26 0.3936 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463892 NA NA 0.41686 0.276214 NA 0.239 NA 5.4079066 1111 1 1337334 1337334 G T ncRNA_exonic LOC148413 NA NA NA UTR3 ENSG00000224870,ENSG00000242485 ENST00000444362:c.*1363G>T,ENST00000447725:c.*1524G>T;ENST00000344843:c.*129C>A NA NA NA NA 1p36.33 NA Name=KAP1 NA NA rs1171 0.33 0.33 0.281 0.370807 0.0924 0.869 0.3646 0.1195 0.4877 0.09 0.87 0.27 0.12 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626283 NA NA NA NA NA 0.203 NA 5.4076 1111 1 169521849 169521849 T C exonic F5 NA synonymous SNV F5:NM_000130:exon8:c.A1242G:p.K414K exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000546081:exon7:c.A831G:p.K277K,ENSG00000198734:ENST00000367796:exon8:c.A1242G:p.K414K,ENSG00000198734:ENST00000367797:exon8:c.A1242G:p.K414K NA NA 1q24.2 NA NA NA NA rs6035 0.07 0.07 0.061 0.0830671 0.0865 0.0714 0.0735 0.0847 0.0961 0.08 0.07 0.06 0.06 0.0862 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278814 NA NA 0.086395 0.090558 NA 0.065 NA 5.4075716 1111 5 150489390 150489390 A G exonic ANXA6 NA synonymous SNV ANXA6:NM_001193544:exon21:c.T1512C:p.P504P,ANXA6:NM_001155:exon22:c.T1608C:p.P536P exonic ENSG00000197043 NA synonymous SNV ENSG00000197043:ENST00000377751:exon10:c.T579C:p.P193P,ENSG00000197043:ENST00000521512:exon15:c.T969C:p.P323P,ENSG00000197043:ENST00000356496:exon21:c.T1590C:p.P530P,ENSG00000197043:ENST00000523714:exon21:c.T1512C:p.P504P,ENSG00000197043:ENST00000354546:exon22:c.T1608C:p.P536P Score=425;Name=lod=71 NA 5q33.1 Score=841;Name=V$HAND1E47_01 NA NA NA rs1133202 0.76 0.76 0.758 0.758187 0.7555 0.6696 0.7637 0.8404 0.7372 0.76 0.69 0.73 0.84 0.7495 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370809 NA NA 0.754952 0.843782 NA 0.819 NA 5.4067146 1111 10 66585513 66585513 A G ncRNA_exonic ANXA2P3 NA NA NA ncRNA_exonic ENSG00000216740 NA NA NA Score=609;Name=lod=397 NA 10q21.3 NA NA NA NA rs7898508 0.31 0.31 0.274 0.297923 0.2614 0.4712 0.3141 0.1914 0.2894 0.27 0.5 0.25 0.19 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18402 NA NA NA NA NA 0.196 NA 5.4052666 1111 7 31611758 31611758 G T exonic CCDC129 NA synonymous SNV CCDC129:NM_194300:exon5:c.G351T:p.G117G,CCDC129:NM_001257968:exon6:c.G429T:p.G143G,CCDC129:NM_001257967:exon7:c.G381T:p.G127G exonic ENSG00000180347 NA synonymous SNV ENSG00000180347:ENST00000409210:exon4:c.G75T:p.G25G,ENSG00000180347:ENST00000319386:exon6:c.G351T:p.G117G,ENSG00000180347:ENST00000407970:exon6:c.G351T:p.G117G,ENSG00000180347:ENST00000409717:exon6:c.G351T:p.G117G,ENSG00000180347:ENST00000451887:exon6:c.G429T:p.G143G,ENSG00000180347:ENST00000454513:exon6:c.G351T:p.G117G,ENSG00000180347:ENST00000456011:exon6:c.G351T:p.G117G Score=426;Name=lod=72 NA 7p14.3 NA NA NA NA rs67930674 0.43 0.43 0.428 0.441094 0.4036 0.3383 0.5101 0.5378 0.4059 0.4 0.37 0.47 0.53 0.4395 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899475 NA NA 0.418372 0.515887 NA 0.384 NA 5.4051946 1112 8 27456253 27456253 T C intronic CLU NA NA NA intronic ENSG00000120885 NA NA NA NA Name=Alzheimer's disease 8p21.1 NA NA Name=10 NA rs2279590 0.74 0.74 0.758 0.759385 0.5954 0.7887 0.67 0.9418 0.7147 0.59 0.8 0.66 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011366 NA NA NA NA NA 0.688 NA 5.4046 1112 19 49652130 49652130 G A intronic PPFIA3 NA NA NA intronic ENSG00000177380 NA NA NA NA NA 19q13.33 NA Name=JunD,SIX5,SP1,Pol2,p300 Name=9 NA rs116573491 NA NA NA 0.591454 0.5954 0.2411 0.5865 0.8835 0.5573 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307877 NA NA NA NA NA NA NA 5.4046 1112 10 29822159 29822159 T C exonic SVIL NA synonymous SNV SVIL:NM_021738:exon8:c.A1137G:p.L379L exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon8:c.A1137G:p.L379L,ENSG00000197321:ENST00000375398:exon10:c.A1137G:p.L379L Score=272;Name=lod=17 NA 10p11.23 NA NA NA NA rs7076239 0.32 0.32 0.304 0.310703 0.4274 0.0823 0.3862 0.3502 0.319 0.43 0.09 0.41 0.36 0.3883 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776096 NA NA 0.446395 0.362914 NA 0.326 NA 5.4045716 1112 21 47974582 47974582 A G exonic DIP2A NA synonymous SNV DIP2A:NM_001146114:exon25:c.A3057G:p.T1019T,DIP2A:NM_001146116:exon27:c.A3237G:p.T1079T,DIP2A:NM_015151:exon27:c.A3249G:p.T1083T exonic ENSG00000160305 NA synonymous SNV ENSG00000160305:ENST00000427143:exon25:c.A3057G:p.T1019T,ENSG00000160305:ENST00000318711:exon27:c.A3252G:p.T1084T,ENSG00000160305:ENST00000400274:exon27:c.A3237G:p.T1079T,ENSG00000160305:ENST00000417564:exon27:c.A3249G:p.T1083T NA NA 21q22.3 Score=719;Name=V$HOX13_01 NA NA NA rs1107065 0.33 0.33 0.293 0.331669 0.3986 0.3433 0.389 0.1634 0.4376 0.39 0.34 0.4 0.19 0.4442 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422003 1.422003 NA 0.419359 0.227993 NA 0.399 NA 5.4045076 1112 3 52556369 52556369 C T exonic STAB1 NA synonymous SNV STAB1:NM_015136:exon60:c.C6489T:p.H2163H exonic ENSG00000010327 NA synonymous SNV ENSG00000010327:ENST00000321725:exon60:c.C6489T:p.H2163H NA NA 3p21.1 NA NA NA NA rs35325270 0.13 0.13 0.133 0.139577 0.0905 0.0228 0.1239 0.3593 0.0245 0.09 0.02 0.12 0.33 0.0905 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857245 NA NA 0.081163 0.330458 NA 0.254 NA 5.4045036 1112 18 60985879 60985879 T C exonic BCL2 NA synonymous SNV BCL2:NM_000633:exon2:c.A21G:p.T7T,BCL2:NM_000657:exon2:c.A21G:p.T7T exonic ENSG00000171791 NA synonymous SNV ENSG00000171791:ENST00000398117:exon1:c.A21G:p.T7T,ENSG00000171791:ENST00000589955:exon1:c.A21G:p.T7T,ENSG00000171791:ENST00000333681:exon2:c.A21G:p.T7T,ENSG00000171791:ENST00000444484:exon2:c.A21G:p.T7T Score=581;Name=lod=306 NA 18q21.33 NA NA NA NA rs1801018 0.28 0.28 0.239 0.243211 0.4751 0.0923 0.389 0.0318 0.3425 0.5 0.09 0.41 0.04 0.3688 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218152 NA NA 0.41845 0.086101 ID=COSM1600002,COSM438304,COSM438303;OCCURENCE=1(breast),1(large_intestine),1(central_nervous_system) 0.254 NA 5.4043166 1112 1 111825226 111825226 C T ncRNA_exonic CHIAP2 NA NA NA ncRNA_exonic ENSG00000203878 NA NA NA Score=425;Name=lod=71 NA 1p13.2 NA NA NA NA rs6687390 0.28 0.28 0.309 0.297324 0.2624 0.2282 0.1974 0.3843 0.3579 0.27 0.27 0.2 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.984195 1.984195 NA NA NA NA 0.261 NA 5.4042666 1112 10 129899629 129899629 G A exonic MKI67 NA synonymous SNV MKI67:NM_001145966:exon13:c.C8518T:p.L2840L,MKI67:NM_002417:exon14:c.C9598T:p.L3200L exonic ENSG00000148773 NA synonymous SNV ENSG00000148773:ENST00000368653:exon13:c.C8518T:p.L2840L,ENSG00000148773:ENST00000368654:exon14:c.C9598T:p.L3200L NA NA 10q26.2 NA NA NA NA rs16912247 0.04 0.04 0.035 0.0399361 0.0944 NA 0.0648 0.0015 0.0593 0.09 0.0017 0.06 0.0041 0.0696 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348889 NA NA 0.098605 0.019065 NA 0.051 NA 5.4040616 1112 18 12351342 12351342 C T exonic AFG3L2 NA synonymous SNV AFG3L2:NM_006796:exon11:c.G1389A:p.L463L exonic ENSG00000141385 NA synonymous SNV ENSG00000141385:ENST00000269143:exon11:c.G1389A:p.L463L NA NA 18p11.21 NA NA NA Score=160;Name=1059190_0_-_160 rs11080572 0.63 0.63 0.621 0.623203 0.7614 0.6071 0.5735 0.4387 0.7822 0.77 0.62 0.6 0.48 0.7205 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229711 NA NA 0.780814 0.501362 ID=COSM148399;OCCURENCE=1(stomach) 0.572 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116248.2|RCV000123556.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.4039526 1112 4 16025837 16025837 C T intronic PROM1 NA NA NA intronic ENSG00000007062 NA NA NA NA NA 4p15.32 NA Name=STAT3,GR Name=44 NA rs17478336 0.34 0.34 0.32 0.301917 0.5964 0.1815 0.366 0.0499 0.4182 0.61 0.19 0.38 0.05 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054149 NA NA NA NA NA 0.341 NA 5.4036 1112 16 30518096 30518096 C T exonic ITGAL NA synonymous SNV ITGAL:NM_001114380:exon19:c.C2175T:p.N725N,ITGAL:NM_002209:exon21:c.C2427T:p.N809N exonic ENSG00000005844 NA synonymous SNV ENSG00000005844:ENST00000358164:exon19:c.C2175T:p.N725N,ENSG00000005844:ENST00000356798:exon21:c.C2427T:p.N809N NA NA 16p11.2 NA NA NA NA rs2230434 0.04 0.04 0.035 0.0263578 0.0934 0.001 0.0389 0.0061 0.002 0.09 NA 0.06 0.01 0.0634 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27062 NA NA 0.106512 0.014565 NA 0.022 NA 5.4033546 1112 19 9408658 9408658 G A exonic ZNF699 NA synonymous SNV ZNF699:NM_198535:exon3:c.C184T:p.L62L exonic ENSG00000196110 NA synonymous SNV ENSG00000196110:ENST00000308650:exon3:c.C184T:p.L62L,ENSG00000196110:ENST00000591998:exon4:c.C184T:p.L62L NA NA 19p13.2 NA NA NA NA rs73920733 0.1 0.1 0.1 0.111621 0.0865 0.0228 0.072 0.2201 0.1104 0.08 0.01 0.08 0.24 0.0898 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14596 NA NA 0.087099 0.222603 NA 0.145 NA 5.4032676 1112 15 85177723 85177723 T G ncRNA_intronic SCAND2P NA NA NA ncRNA_exonic ENSG00000176700,ENSG00000254779 NA NA NA Score=683;Name=lod=792 NA 15q25.2 NA NA NA NA rs36126054 0.17 0.17 0.156 0.140775 0.2634 0.1369 0.1859 0.0144 0.1575 0.27 0.15 0.21 0.01 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.524583 1.524583 NA NA NA NA 0.174 NA 5.4032666 1112 4 70079838 70079838 T C exonic UGT2B11 NA synonymous SNV UGT2B11:NM_001073:exon1:c.A603G:p.L201L exonic ENSG00000213759 NA synonymous SNV ENSG00000213759:ENST00000446444:exon1:c.A603G:p.L201L Score=414;Name=lod=64 NA 4q13.2 NA NA NA NA rs4694697 0.31 0.31 0.283 0.303514 0.4155 0.2946 0.3804 0.177 0.3139 0.43 0.27 0.35 0.14 0.3983 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642672 NA NA 0.449686 0.234907 ID=COSM149684;OCCURENCE=1(stomach) NA NA 5.4031806 1112 4 44626641 44626641 A G exonic YIPF7 NA synonymous SNV YIPF7:NM_182592:exon5:c.T657C:p.G219G exonic ENSG00000177752 NA synonymous SNV ENSG00000177752:ENST00000332990:exon5:c.T657C:p.G219G Score=556;Name=lod=243 NA 4p12 NA NA NA NA rs60959366 0.52 0.52 0.532 0.551917 0.4095 0.5585 0.4625 0.6884 0.5706 0.4 0.56 0.46 0.7 0.49 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603811 NA NA 0.365257 0.61225 NA 0.377 NA 5.4019096 1112 4 57839280 57839280 A T intronic NOA1 NA NA NA intronic ENSG00000084092 NA NA NA Score=251;Name=lod=14 NA 4q12 NA Name=SETDB1 NA NA rs57265257 0.24 0.24 0.229 0.239417 0.1869 0.381 0.219 0.2088 0.2035 0.19 0.37 0.19 0.2 0.2199 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.984099 3.984099 NA 0.191744 0.192325 NA 0.181 NA 5.401456 1112 6 32784753 32784753 T C UTR5 HLA-DOB NM_002120:c.-25A>G NA NA UTR5 ENSG00000241106 ENST00000438763:c.-25A>G,ENST00000488325:c.-25A>G NA NA NA NA 6p21.32 NA Name=Pol2,RFX5_(N-494),TBP Name=71 NA rs2071470 0.3 0.3 0.269 0.308906 0.3082 0.3651 0.3487 0.1369 0.456 0.3 0.38 0.34 0.16 0.3328 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17316 NA NA 0.290882 0.156954 NA 0.232 NA 5.4014514 1112 17 79244802 79244802 T C exonic SLC38A10 NA synonymous SNV SLC38A10:NM_001037984:exon10:c.A1047G:p.T349T,SLC38A10:NM_138570:exon10:c.A1047G:p.T349T exonic ENSG00000157637 NA synonymous SNV ENSG00000157637:ENST00000288439:exon10:c.A1047G:p.T349T,ENSG00000157637:ENST00000374759:exon10:c.A1047G:p.T349T Score=444;Name=lod=85 NA 17q25.3 NA NA NA NA rs2292184 0.43 0.43 0.434 0.429113 0.4414 0.1825 0.4121 0.7837 0.2035 0.43 0.19 0.38 0.75 0.3999 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067101 NA NA 0.423953 0.747163 ID=COSM437770,COSM437771;OCCURENCE=1(breast) 0.551 NA 5.4014136 1112 6 29760819 29760819 A C ncRNA_exonic HCG4 NA NA NA ncRNA_exonic ENSG00000176998,ENSG00000181126 NA NA NA NA NA 6p22.1 NA NA Name=11 NA rs1610646 0.24 0.24 0.217 0.249601 0.2654 0.1101 0.2637 0.298 0.3016 0.26 0.14 0.24 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740302 NA NA NA NA NA 0.246 NA 5.4012666 1112 14 31354374 31354374 A T ncRNA_intronic LOC100506071 NA NA NA ncRNA_exonic ENSG00000258525 NA NA NA NA NA 14q12 NA Name=GATA-1 NA NA rs12881068 0.15 0.15 0.147 0.133387 0.2654 0.0813 0.1354 0.0416 0.1738 0.27 0.05 0.16 0.05 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330403 NA NA NA NA NA 0.174 NA 5.4012666 1112 7 44282868 44282868 A G exonic CAMK2B NA synonymous SNV CAMK2B:NM_001220:exon8:c.T582C:p.P194P,CAMK2B:NM_172078:exon8:c.T582C:p.P194P,CAMK2B:NM_172079:exon8:c.T582C:p.P194P,CAMK2B:NM_172080:exon8:c.T582C:p.P194P,CAMK2B:NM_172081:exon8:c.T582C:p.P194P,CAMK2B:NM_172082:exon8:c.T582C:p.P194P,CAMK2B:NM_172083:exon8:c.T582C:p.P194P,CAMK2B:NM_172084:exon8:c.T582C:p.P194P exonic ENSG00000058404 NA synonymous SNV ENSG00000058404:ENST00000502837:exon6:c.T195C:p.P65P,ENSG00000058404:ENST00000258682:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000346990:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000347193:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000350811:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000353185:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000353625:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000358707:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000395747:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000395749:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000440254:exon8:c.T582C:p.P194P,ENSG00000058404:ENST00000457475:exon8:c.T582C:p.P194P NA NA 7p13 Score=748;Name=V$SRF_01 NA NA NA rs11542228 0.33 0.33 0.313 0.335663 0.4245 0.2222 0.317 0.2852 0.4427 0.4 0.24 0.35 0.31 0.3966 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244261 1.244261 NA 0.444535 0.310259 NA 0.384 NA 5.4010316 1112 3 47292183 47292183 T C intronic KIF9 NA NA NA intronic ENSG00000088727 NA NA NA NA NA 3p21.31 NA Name=CTCF_(SC-5916),PU.1,SMC3_(ab9263),Rad21,ELF1_(SC-631),CTCF Name=90 NA rs11130124 0.57 0.57 0.528 0.5627 0.5994 0.5357 0.5562 0.5356 0.5941 0.6 0.53 0.58 0.55 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233029 NA NA NA NA NA 0.623 NA 5.4006 1112 4 76722422 76722422 T C intronic USO1 NA NA NA intronic ENSG00000138768 NA NA NA NA NA 4q21.1 NA Name=c-Fos Name=34 NA rs13133472 0.59 0.59 0.552 0.544329 0.5994 0.7966 0.6484 0.2602 0.5378 0.61 0.83 0.67 0.25 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134908 NA NA NA NA NA 0.514 NA 5.4006 1112 7 37953840 37953840 C T exonic SFRP4 NA synonymous SNV SFRP4:NM_003014:exon3:c.G567A:p.T189T exonic ENSG00000106483 NA synonymous SNV ENSG00000106483:ENST00000436072:exon3:c.G567A:p.T189T,ENSG00000106483:ENST00000447200:exon4:c.G165A:p.T55T NA NA 7p14.1 Score=820;Name=V$RFX1_02 NA NA NA rs1132552 0.49 0.49 0.473 0.54393 0.4165 0.6339 0.5461 0.4947 0.6472 0.43 0.62 0.49 0.43 0.4616 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620783 NA NA 0.388256 0.473445 NA 0.5 NA 5.4003106 1112 2 102315057 102315057 A G intronic MAP4K4 NA NA NA intronic ENSG00000071054 NA NA NA NA NA 2q11.2 NA Name=HA-E2F1,GATA-2,GATA-1 Name=95 NA rs1567385 0.23 0.23 0.193 0.191294 0.2863 0.2272 0.3069 0.0514 0.1636 0.3 0.26 0.3 0.06 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1575 NA NA 0.313639 0.092486 ID=COSN166228;OCCURENCE=1(NS) 0.167 NA 5.400061 1112 2 132201288 132201288 A G ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=774;Name=lod=1864 NA 2q21.1 NA NA NA NA rs4337511 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA 0.2673 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601928 NA NA NA NA NA 0.21 NA 5.3993666 1112 10 45869895 45869895 A G intronic ALOX5 NA NA NA intronic ENSG00000012779 NA NA NA NA NA 10q11.21 NA Name=E2F6_(H-50),E2F6 Name=36 NA rs111916157 0.19 0.19 0.125 0.186502 0.2018 0.1835 0.1484 0.1944 0.1902 0.2 0.19 0.16 0.19 0.2444 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564672 NA NA 0.154486 0.135191 NA 0.043 NA 5.399314 1112 19 9088722 9088722 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon1:c.C3093T:p.G1031G exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C3093T:p.G1031G NA NA 19p13.2 NA NA NA NA rs17000948 0.14 0.14 0.141 0.14377 0.0855 0.2282 0.1124 0.1437 0.1391 0.09 0.26 0.1 0.12 0.1076 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358155 NA NA 0.075535 0.12873 NA 0.145 NA 5.3980316 1112 20 46268493 46268493 A G exonic NCOA3 NA synonymous SNV NCOA3:NM_001174087:exon15:c.A2880G:p.T960T,NCOA3:NM_001174088:exon15:c.A2865G:p.T955T,NCOA3:NM_006534:exon15:c.A2880G:p.T960T,NCOA3:NM_181659:exon15:c.A2880G:p.T960T exonic ENSG00000124151 NA synonymous SNV ENSG00000124151:ENST00000341724:exon14:c.A2670G:p.T890T,ENSG00000124151:ENST00000371997:exon15:c.A2865G:p.T955T,ENSG00000124151:ENST00000371998:exon15:c.A2880G:p.T960T,ENSG00000124151:ENST00000372004:exon15:c.A2880G:p.T960T NA NA 20q13.12 NA NA NA NA rs2076546 0.12 0.12 0.154 0.134385 0.0845 0.0933 0.0879 0.2549 0.0982 0.09 0.08 0.07 0.27 0.0968 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573536 NA NA 0.087442 0.235815 NA 0.217 NA 5.3979246 1112 20 34443173 34443173 G C intronic PHF20 NA NA NA intronic ENSG00000025293 NA NA NA NA NA 20q11.23 NA Name=CEBPB,GATA3_(SC-268) Name=15 NA rs2425171 0.23 0.23 0.234 0.293331 0.1869 0.1835 0.1859 0.4365 0.3988 0.18 0.16 0.22 0.41 0.2266 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023479 NA NA 0.188599 0.400685 NA 0.239 NA 5.397901 1112 19 14581063 14581063 A G exonic PKN1 NA synonymous SNV PKN1:NM_002741:exon19:c.A2382G:p.R794R,PKN1:NM_213560:exon19:c.A2400G:p.R800R exonic ENSG00000123143 NA synonymous SNV ENSG00000123143:ENST00000242783:exon19:c.A2382G:p.R794R,ENSG00000123143:ENST00000342216:exon19:c.A2400G:p.R800R NA NA 19p13.12 NA NA NA NA rs1042728 0.18 0.18 0.176 0.199481 0.0825 0.1081 0.1542 0.4796 0.0675 0.09 0.11 0.18 0.4 0.117 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811729 NA NA 0.069302 0.425783 NA 0.181 NA 5.3978646 1112 6 159206251 159206251 T C intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA Name=Pol2-4H8 Name=7 NA rs2306746 0.42 0.42 0.408 0.414936 0.6024 0.2054 0.3545 0.3918 0.5123 0.61 0.17 0.42 0.39 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035662 NA NA NA NA NA 0.449 NA 5.3976 1112 17 7942434 7942434 A G UTR5 ALOX15B NM_001141:c.-40A>G,NM_001039131:c.-40A>G,NM_001039130:c.-40A>G NA NA UTR5 ENSG00000179593 ENST00000380183:c.-40A>G,ENST00000572022:c.-40A>G,ENST00000380173:c.-40A>G NA NA NA NA 17p13.1 NA Name=Pol2 Name=7 NA rs73972649 0.32 0.32 0.286 0.309105 0.3082 0.2738 0.2579 0.4289 0.2209 0.32 0.27 0.28 0.42 0.3067 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881622 NA NA 0.32093 0.401498 NA 0.159 NA 5.3975034 1112 7 11581134 11581134 T C exonic THSD7A NA synonymous SNV THSD7A:NM_015204:exon6:c.A1734G:p.A578A exonic ENSG00000005108 NA synonymous SNV ENSG00000005108:ENST00000423059:exon6:c.A1734G:p.A578A Score=636;Name=lod=512 NA 7p21.3 NA NA NA NA rs2074603 0.46 0.46 0.452 0.471645 0.4245 0.5387 0.3775 0.4902 0.4928 0.42 0.51 0.41 0.49 0.4275 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.746384 1.746384 NA 0.417168 0.464052 NA 0.565 NA 5.3974986 1112 12 58112189 58112189 A G exonic OS9 NA synonymous SNV OS9:NM_001261421:exon10:c.A1299G:p.E433E,OS9:NM_001261422:exon10:c.A1239G:p.E413E,OS9:NM_001017956:exon11:c.A1395G:p.E465E,OS9:NM_001261420:exon11:c.A1398G:p.E466E,OS9:NM_006812:exon11:c.A1395G:p.E465E exonic ENSG00000135506 NA synonymous SNV ENSG00000135506:ENST00000547079:exon4:c.A474G:p.E158E,ENSG00000135506:ENST00000413095:exon6:c.A777G:p.E259E,ENSG00000135506:ENST00000435406:exon10:c.A1239G:p.E413E,ENSG00000135506:ENST00000551035:exon10:c.A1299G:p.E433E,ENSG00000135506:ENST00000257966:exon11:c.A1398G:p.E466E,ENSG00000135506:ENST00000315970:exon11:c.A1395G:p.E465E,ENSG00000135506:ENST00000552285:exon11:c.A1395G:p.E465E Score=551;Name=lod=232 NA 12q14.1 NA NA NA NA rs799265 0.35 0.35 0.34 0.345447 0.4473 0.2698 0.3473 0.3601 0.2975 0.43 0.19 0.4 0.36 0.3813 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879427 NA NA 0.441047 0.388561 NA 0.391 NA 5.3970196 1112 3 47464122 47464122 A G intronic SCAP NA NA NA intronic ENSG00000114650 NA NA NA NA NA 3p21.31 NA Name=CTCF_(C-20),Rad21,Max,c-Myc,CTCF,CTCF_(SC-5916) Name=60 NA rs1038394 0.48 0.48 0.453 0.459265 0.6034 0.4633 0.5202 0.2428 0.5562 0.6 0.46 0.52 0.3 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167485 NA NA NA NA NA 0.536 NA 5.3966 1112 7 44005528 44005528 C T ncRNA_exonic POLR2J4 NA NA NA ncRNA_exonic ENSG00000214783,ENSG00000241057 NA NA NA Score=429;Name=lod=74 NA 7p13 NA NA NA NA rs11766894 0.13 0.13 0.108 0.104233 0.1402 0.0615 0.1614 0.1127 0.0593 0.15 0.08 0.15 0.13 0.1301 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312421 NA NA NA NA NA NA NA 5.3963666 1112 1 114429340 114429340 T C ncRNA_intronic AP4B1-AS1 NA NA NA ncRNA_intronic ENSG00000226167 NA NA NA NA NA 1p13.2 NA NA Name=5 NA rs1746860 0.35 0.35 0.378 0.376797 0.2704 0.0794 0.2536 0.7988 0.3098 0.28 0.09 0.28 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.581591 1.581591 NA NA NA NA 0.37 NA 5.3962666 1112 14 35409214 35409214 T C ncRNA_exonic IGBP1P1 NA NA NA ncRNA_exonic ENSG00000226677 NA NA NA Score=597;Name=lod=357 NA 14q13.2 NA NA NA NA rs1967723 0.31 0.31 0.3 0.304912 0.2704 0.37 0.2824 0.2837 0.318 0.28 0.38 0.25 0.32 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087685 NA NA NA NA ID=COSN164662;OCCURENCE=1(breast) 0.254 NA 5.3962666 1112 16 69967897 69967897 T C exonic WWP2 NA synonymous SNV WWP2:NM_199424:exon7:c.T390C:p.H130H,WWP2:NM_001270453:exon14:c.T1359C:p.H453H,WWP2:NM_001270454:exon17:c.T1707C:p.H569H,WWP2:NM_007014:exon18:c.T1707C:p.H569H exonic ENSG00000198373 NA synonymous SNV ENSG00000198373:ENST00000568684:exon7:c.T390C:p.H130H,ENSG00000198373:ENST00000542271:exon14:c.T1359C:p.H453H,ENSG00000198373:ENST00000356003:exon16:c.T1707C:p.H569H,ENSG00000198373:ENST00000359154:exon17:c.T1707C:p.H569H,ENSG00000198373:ENST00000448661:exon17:c.T1707C:p.H569H Score=630;Name=lod=486 NA 16q22.1 NA NA NA Score=53;Name=926664_0_-_53 rs2270841 0.85 0.85 0.848 0.854633 0.7525 0.9683 0.7507 0.947 0.7914 0.74 0.97 0.79 0.92 0.7761 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.21184 NA NA 0.74186 0.896497 ID=COSM435641;OCCURENCE=1(breast) 0.783 NA 5.3962066 1112 7 44259706 44259706 G A exonic CAMK2B NA synonymous SNV CAMK2B:NM_172084:exon15:c.C1305T:p.N435N,CAMK2B:NM_172083:exon17:c.C1395T:p.N465N,CAMK2B:NM_172081:exon18:c.C1467T:p.N489N,CAMK2B:NM_172079:exon19:c.C1512T:p.N504N,CAMK2B:NM_172080:exon19:c.C1509T:p.N503N,CAMK2B:NM_172082:exon19:c.C1434T:p.N478N,CAMK2B:NM_172078:exon20:c.C1584T:p.N528N,CAMK2B:NM_001220:exon23:c.C1956T:p.N652N exonic ENSG00000058404 NA synonymous SNV ENSG00000058404:ENST00000425809:exon4:c.C510T:p.N170N,ENSG00000058404:ENST00000346990:exon15:c.C1305T:p.N435N,ENSG00000058404:ENST00000353625:exon17:c.C1395T:p.N465N,ENSG00000058404:ENST00000358707:exon18:c.C1467T:p.N489N,ENSG00000058404:ENST00000258682:exon19:c.C1509T:p.N503N,ENSG00000058404:ENST00000347193:exon19:c.C1434T:p.N478N,ENSG00000058404:ENST00000395747:exon19:c.C1512T:p.N504N,ENSG00000058404:ENST00000457475:exon19:c.C1512T:p.N504N,ENSG00000058404:ENST00000350811:exon20:c.C1584T:p.N528N,ENSG00000058404:ENST00000440254:exon20:c.C1584T:p.N528N,ENSG00000058404:ENST00000395749:exon23:c.C1956T:p.N652N Score=551;Name=lod=231 NA 7p13 NA NA NA NA rs1065359 0.34 0.34 0.328 0.339058 0.4085 0.3879 0.3213 0.1596 0.4724 0.42 0.38 0.33 0.19 0.4449 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.46927 1.46927 NA 0.417423 0.220682 NA 0.268 NA 5.3958436 1112 9 129158002 129158002 G A UTR3 MVB12B NM_001011703:c.*22G>A NA NA UTR3 ENSG00000196814 ENST00000545391:c.*22G>A,ENST00000535766:c.*22G>A NA NA NA NA 9q33.3 NA Name=c-Fos,c-Jun,STAT3 Name=105 NA rs722538 0.24 0.24 0.242 0.265575 0.2992 0.0933 0.232 0.2837 0.408 0.31 0.09 0.25 0.27 0.3218 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281375 NA NA 0.317209 0.303677 NA 0.304 NA 5.3951244 1112 21 47836216 47836216 A G exonic PCNT NA synonymous SNV PCNT:NM_006031:exon30:c.A6384G:p.T2128T exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon30:c.A6384G:p.T2128T NA NA 21q22.3 NA NA NA NA rs60444527 0.16 0.16 0.151 0.177915 0.0924 0.004 0.0922 0.4856 0.09 0.1 0.0035 0.1 0.47 0.1034 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02594 NA NA 0.075814 0.433954 NA 0.196 NA 5.3950526 1112 10 43613843 43613843 G T exonic RET NA synonymous SNV RET:NM_020630:exon13:c.G2307T:p.L769L,RET:NM_020975:exon13:c.G2307T:p.L769L exonic ENSG00000165731 NA synonymous SNV ENSG00000165731:ENST00000340058:exon13:c.G2307T:p.L769L,ENSG00000165731:ENST00000355710:exon13:c.G2307T:p.L769L Score=621;Name=lod=444 NA 10q11.21 NA NA NA NA rs1800861 0.72 0.72 0.722 0.71246 0.7644 0.4742 0.7478 0.9206 0.5982 0.76 0.49 0.77 0.9 0.7419 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.1353 NA NA 0.765349 0.875397 NA 0.826 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=No_MEN2_disease|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000021844.1|RCV000127779.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.3950176 1113 8 74888494 74888494 C T UTR5 TMEM70 NM_017866:c.-23C>T,NM_001040613:c.-23C>T NA NA UTR5 ENSG00000175606 ENST00000416961:c.-23C>T,ENST00000517439:c.-23C>T,ENST00000312184:c.-23C>T NA NA NA NA 8q21.11 NA Name=Max,ELF1_(SC-631),Oct-2,TAF1,E2F6_(H-50),POU2F2,HMGN3,Pol2,Pol2(phosphoS2),TAF7_(SQ-8),BCLAF1_(M33-P5B11),E2F6,CCNT2,c-Myc,HEY1,PAX5-N19,Nrf1,TCF12,TBP,Egr-1,Sin3Ak-20,Pbx3,Pol2-4H8 Name=146 NA rs2306486 0.21 0.21 0.208 0.216653 0.2893 0.1925 0.232 0.115 0.2935 0.29 0.19 0.21 0.11 0.3545 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957723 NA NA 0.294549 0.146658 NA 0.029 NA 5.3949844 1113 6 31322888 31322888 A G exonic HLA-B NA synonymous SNV HLA-B:NM_005514:exon5:c.T1008C:p.S336S exonic ENSG00000234745 NA synonymous SNV ENSG00000234745:ENST00000412585:exon5:c.T1008C:p.S336S NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 Name=2 NA rs1140546 0.78 0.78 0.793 0.819489 0.7634 0.754 0.7666 0.8835 0.8957 0.76 0.76 0.75 0.87 0.7713 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407147 NA NA 0.737357 0.834878 NA 0.775 NA 5.3946096 1113 17 4645324 4645324 T C exonic ZMYND15 NA synonymous SNV ZMYND15:NM_001136046:exon4:c.T942C:p.H314H,ZMYND15:NM_001267822:exon4:c.T942C:p.H314H,ZMYND15:NM_032265:exon4:c.T942C:p.H314H exonic ENSG00000141497 NA synonymous SNV ENSG00000141497:ENST00000269289:exon3:c.T942C:p.H314H,ENSG00000141497:ENST00000573751:exon3:c.T942C:p.H314H,ENSG00000141497:ENST00000433935:exon4:c.T942C:p.H314H,ENSG00000141497:ENST00000592813:exon4:c.T942C:p.H314H Score=609;Name=lod=397 NA 17p13.2 NA NA NA NA rs3826517 0.27 0.27 0.249 0.256589 0.4642 0.1438 0.3271 0.0408 0.4008 0.45 0.16 0.36 0.05 0.3601 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354136 NA NA 0.448023 0.114616 NA 0.29 NA 5.3943436 1113 5 52369002 52369002 G A exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon20:c.G2484A:p.T828T exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon20:c.G2484A:p.T828T,ENSG00000164171:ENST00000510722:exon20:c.G2484A:p.T828T NA NA 5q11.2 NA NA NA NA rs3212327 0.1 0.1 0.112 0.104233 0.0885 0.0317 0.0663 0.2035 0.0879 0.09 0.03 0.06 0.26 0.0878 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405892 NA NA 0.096279 0.182025 NA 0.109 NA 5.3940876 1113 19 42463447 42463447 C T UTR5 RABAC1 NM_006423:c.-3G>A NA NA UTR5 ENSG00000105404 ENST00000222008:c.-3G>A,ENST00000601891:c.-3G>A NA NA Score=446;Name=lod=87 NA 19q13.2 NA Name=ELF1_(SC-631),SP1,Pol2,TAF1,IRF1,TBP,USF-1,SIX5,HEY1,CCNT2,ZBTB7A_(SC-34508),Pol2-4H8,ZNF263 Name=148 NA rs735571 0.73 0.73 0.713 0.717652 0.6451 0.8165 0.6859 0.8056 0.5941 0.67 0.82 0.65 0.79 0.6579 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.064207 2.064207 NA 0.636628 0.763958 NA 0.696 NA 5.3937054 1113 7 148487329 148487329 G T intronic CUL1 NA NA NA intronic ENSG00000055130 NA NA NA NA NA 7q36.1 NA Name=GATA-1 Name=4 NA rs933436 0.7 0.7 0.716 0.708866 0.6064 0.7014 0.7478 0.8533 0.5992 0.61 0.68 0.69 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398697 NA NA NA NA NA 0.63 NA 5.3936 1113 11 123712153 123712153 G C intergenic OR6M1,TMEM225 dist=35096;dist=41480 NA NA ncRNA_exonic ENSG00000254613 NA NA NA NA NA 11q24.1 NA Name=c-Fos,GATA-2,c-Jun Name=26 NA rs4936852 0.65 0.65 0.662 0.641573 0.6064 0.5556 0.6816 0.7852 0.544 0.62 0.56 0.65 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302401 NA NA NA NA NA 0.674 NA 5.3936 1113 5 174353718 174353718 A T ncRNA_intronic FLJ16171 NA NA NA ncRNA_exonic ENSG00000248293 NA NA NA Score=600;Name=lod=367 NA 5q35.2 NA NA NA NA rs12656137 0.33 0.33 0.293 0.347843 0.2734 0.6071 0.2493 0.1112 0.547 0.27 0.6 0.26 0.15 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300767 1.300767 NA NA NA NA 0.297 NA 5.3932666 1113 9 89699790 89699790 G C ncRNA_exonic LOC494127 NA NA NA ncRNA_exonic ENSG00000224887 NA NA NA Score=634;Name=lod=503 NA 9q21.33 NA NA NA NA rs12552232 0.32 0.32 0.334 0.31869 0.2734 0.2341 0.1859 0.5575 0.2239 0.26 0.25 0.19 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015701 NA NA NA NA NA 0.297 NA 5.3932666 1113 12 8389625 8389625 C G ncRNA_intronic FAM86FP NA NA NA ncRNA_exonic ENSG00000164845 NA NA NA Score=456;Name=lod=95 NA 12p13.31 NA NA NA NA rs2965691 0.43 0.43 0.398 0.503994 0.2734 0.5863 0.5389 0.6006 0.501 0.26 0.52 0.44 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218836 NA NA NA NA NA 0.312 NA 5.3932666 1113 10 43281089 43281089 T C exonic BMS1 NA synonymous SNV BMS1:NM_014753:exon3:c.T336C:p.T112T exonic ENSG00000165733 NA synonymous SNV ENSG00000165733:ENST00000374518:exon3:c.T336C:p.T112T Score=480;Name=lod=119 NA 10q11.21 NA NA NA NA rs7074877 0.53 0.53 0.498 0.561102 0.4185 0.6359 0.4899 0.6293 0.589 0.4 0.63 0.5 0.62 0.4641 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583592 NA NA 0.391047 0.596459 NA 0.457 NA 5.3930196 1113 14 94510964 94510964 T C exonic OTUB2 NA synonymous SNV OTUB2:NM_023112:exon5:c.T336C:p.D112D exonic ENSG00000089723 NA synonymous SNV ENSG00000089723:ENST00000203664:exon5:c.T336C:p.D112D Score=425;Name=lod=71 NA 14q32.12 NA NA NA NA rs2273226 0.52 0.52 0.509 0.490216 0.4076 0.4306 0.5288 0.6853 0.3456 0.42 0.48 0.49 0.73 0.4459 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014059 NA NA 0.420233 0.662279 NA 0.565 NA 5.3929336 1113 18 2763697 2763697 C T exonic SMCHD1 NA synonymous SNV SMCHD1:NM_015295:exon37:c.C4629T:p.G1543G exonic ENSG00000101596 NA synonymous SNV ENSG00000101596:ENST00000577880:exon26:c.C3042T:p.G1014G,ENSG00000101596:ENST00000261598:exon37:c.C4629T:p.G1543G,ENSG00000101596:ENST00000320876:exon37:c.C4629T:p.G1543G Score=503;Name=lod=147 NA 18p11.32 NA NA NA NA rs483547 0.34 0.34 0.31 0.275759 0.4612 0.1895 0.317 0.264 0.1605 0.45 0.24 0.37 0.24 0.3721 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723845 NA NA 0.44063 0.298312 ID=COSM1388387,COSM1388386,COSM1388388;OCCURENCE=1(large_intestine) 0.232 NA 5.3927366 1113 14 93170901 93170901 A C intronic LGMN NA NA NA intronic ENSG00000100600 NA NA NA NA NA 14q32.12 NA Name=NFKB,ZEB1_(SC-25388),PAX5-N19,PU.1,IRF4_(M-17),EBF1_(C-8) Name=16 NA rs2402189 0.72 0.72 0.722 0.729034 0.6074 0.7659 0.7738 0.8434 0.6299 0.6 0.75 0.74 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346782 NA NA NA NA NA 0.609 NA 5.3926 1113 16 19547357 19547357 A G exonic CCP110 NA synonymous SNV CCP110:NM_001199022:exon4:c.A366G:p.T122T,CCP110:NM_014711:exon5:c.A366G:p.T122T exonic ENSG00000103540 NA synonymous SNV ENSG00000103540:ENST00000561888:exon2:c.A198G:p.T66T,ENSG00000103540:ENST00000381396:exon4:c.A366G:p.T122T,ENSG00000103540:ENST00000396208:exon4:c.A366G:p.T122T,ENSG00000103540:ENST00000396212:exon5:c.A366G:p.T122T NA NA 16p12.3 NA NA NA NA rs10492785 0.22 0.22 0.204 0.217252 0.0746 0.3849 0.2536 0.2474 0.1247 0.07 0.38 0.21 0.28 0.1347 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194088 NA NA 0.065 0.211425 ID=COSM148032;OCCURENCE=1(stomach) 0.188 NA 5.3923666 1113 19 46180414 46180414 G T intronic GIPR NA NA NA intronic ENSG00000010310 NA NA NA NA NA 19q13.32 NA Name=ELF1_(SC-631),Pol2 Name=9 NA rs34783010 0.18 0.18 0.174 0.159545 0.2137 0.2083 0.1268 0.1165 0.135 0.21 0.22 0.14 0.12 0.1886 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123175 NA NA 0.205492 0.110632 NA 0.159 NA 5.392208 1113 3 53222761 53222761 C T exonic PRKCD NA synonymous SNV PRKCD:NM_212539:exon15:c.C1441T:p.L481L,PRKCD:NM_006254:exon16:c.C1441T:p.L481L exonic ENSG00000163932 NA synonymous SNV ENSG00000163932:ENST00000394729:exon15:c.C1441T:p.L481L,ENSG00000163932:ENST00000330452:exon16:c.C1441T:p.L481L Score=458;Name=lod=97 NA 3p21.1 Score=877;Name=V$OCT1_06 NA NA NA rs2306574 0.73 0.73 0.732 0.713458 0.7505 0.7639 0.719 0.702 0.635 0.74 0.78 0.72 0.67 0.748 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.280246 1.280246 NA 0.776047 0.723559 ID=COSM149403;OCCURENCE=1(stomach) 0.783 NA 5.3921196 1113 8 134420210 134420210 G A intergenic NDRG1,ST3GAL1 dist=110663;dist=46881 NA NA upstream ENSG00000225259 NA NA NA Score=773;Name=lod=1853 NA 8q24.22 NA Name=USF-1 NA NA rs1989290 0.13 0.13 0.11 0.128594 0.1083 0.0506 0.1974 0.208 0.0736 0.11 0.05 0.18 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275927 NA NA NA NA NA 0.123 NA 5.3917 1113 1 24413159 24413159 T C exonic MYOM3 NA synonymous SNV MYOM3:NM_152372:exon15:c.A1773G:p.E591E exonic ENSG00000142661 NA synonymous SNV ENSG00000142661:ENST00000329601:exon15:c.A1773G:p.E591E,ENSG00000142661:ENST00000330966:exon15:c.A1776G:p.E592E,ENSG00000142661:ENST00000374434:exon15:c.A1773G:p.E591E Score=428;Name=lod=73 NA 1p36.11 NA NA NA NA rs6424152 0.41 0.41 0.382 0.3748 0.4463 0.4623 0.353 0.3646 0.2403 0.46 0.45 0.34 0.35 0.4012 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366683 NA NA 0.427709 0.35018 NA 0.341 NA 5.3914576 1113 2 220162015 220162015 C G exonic PTPRN NA synonymous SNV PTPRN:NM_001199763:exon13:c.G1941C:p.P647P,PTPRN:NM_001199764:exon14:c.G1758C:p.P586P,PTPRN:NM_002846:exon14:c.G2028C:p.P676P exonic ENSG00000054356 NA synonymous SNV ENSG00000054356:ENST00000409251:exon13:c.G1941C:p.P647P,ENSG00000054356:ENST00000295718:exon14:c.G2028C:p.P676P,ENSG00000054356:ENST00000423636:exon14:c.G1758C:p.P586P NA NA 2q35 NA NA NA NA rs17847406 0.06 0.06 0.056 0.0638978 0.0895 0.0437 0.072 0.0234 0.1074 0.08 0.04 0.1 0.02 0.0852 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.356314 NA NA 0.101163 0.034725 NA 0.123 NA 5.3908036 1113 6 159184462 159184462 A G exonic SYTL3 NA synonymous SNV SYTL3:NM_001242395:exon15:c.A1440G:p.S480S,SYTL3:NM_001009991:exon16:c.A1440G:p.S480S,SYTL3:NM_001242394:exon17:c.A1644G:p.S548S,SYTL3:NM_001242384:exon18:c.A1644G:p.S548S exonic ENSG00000164674 NA synonymous SNV ENSG00000164674:ENST00000367081:exon9:c.A822G:p.S274S,ENSG00000164674:ENST00000297239:exon16:c.A1644G:p.S548S,ENSG00000164674:ENST00000360448:exon16:c.A1440G:p.S480S NA NA 6q25.3 NA Name=Pol2-4H8 Name=29 NA rs2291387 0.64 0.64 0.658 0.649361 0.7863 0.247 0.4683 0.9304 0.6718 0.8 0.22 0.55 0.93 0.701 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706365 NA NA 0.788721 0.9133 NA 0.667 NA 5.3906456 1113 17 76482435 76482435 C T exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon45:c.G6972A:p.T2324T exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon45:c.G6930A:p.T2310T,ENSG00000187775:ENST00000585328:exon45:c.G6957A:p.T2319T NA NA 17q25.3 NA NA NA NA rs61743860 0.09 0.09 0.088 0.0824681 0.0924 0.1478 0.0634 0.0234 0.0982 0.1 0.16 0.07 0.02 0.0927 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582405 NA NA 0.091079 0.036288 NA 0.087 NA 5.3904876 1113 6 42883669 42883669 C T upstream PTCRA NA NA NA upstream ENSG00000171611 NA NA NA NA NA 6p21.1 NA Name=TCF12 Name=6 NA rs9471958 0.17 0.17 0.182 0.169529 0.2763 0.0218 0.196 0.1505 0.2188 0.27 0.02 0.22 0.15 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654103 NA NA NA NA NA 0.196 NA 5.3903666 1113 10 81371698 81371698 C T exonic SFTPA1 NA synonymous SNV SFTPA1:NM_001164647:exon2:c.C117T:p.H39H,SFTPA1:NM_001093770:exon3:c.C162T:p.H54H,SFTPA1:NM_001164644:exon3:c.C117T:p.H39H,SFTPA1:NM_005411:exon3:c.C117T:p.H39H exonic ENSG00000122852 NA synonymous SNV ENSG00000122852:ENST00000428376:exon2:c.C117T:p.H39H,ENSG00000122852:ENST00000429958:exon2:c.C117T:p.H39H,ENSG00000122852:ENST00000372308:exon3:c.C117T:p.H39H,ENSG00000122852:ENST00000398636:exon3:c.C117T:p.H39H,ENSG00000122852:ENST00000419470:exon3:c.C162T:p.H54H,ENSG00000122852:ENST00000439264:exon3:c.C117T:p.H39H NA NA 10q22.3 NA NA NA NA rs4253512 0.13 0.13 0.093 0.150958 0.1342 0.2133 0.0807 0.1029 0.2188 0.13 0.21 0.09 0.08 0.1423 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581137 NA NA NA NA NA 0.087 NA 5.3901666 1113 11 72408657 72408657 C T exonic ARAP1 NA synonymous SNV ARAP1:NM_001135190:exon17:c.G1857A:p.L619L,ARAP1:NM_015242:exon18:c.G2040A:p.L680L,ARAP1:NM_001040118:exon20:c.G2775A:p.L925L exonic ENSG00000186635 NA synonymous SNV ENSG00000186635:ENST00000427971:exon7:c.G639A:p.L213L,ENSG00000186635:ENST00000452383:exon7:c.G639A:p.L213L,ENSG00000186635:ENST00000393605:exon15:c.G2055A:p.L685L,ENSG00000186635:ENST00000429686:exon17:c.G1857A:p.L619L,ENSG00000186635:ENST00000334211:exon18:c.G2040A:p.L680L,ENSG00000186635:ENST00000426523:exon18:c.G2040A:p.L680L,ENSG00000186635:ENST00000455638:exon18:c.G2775A:p.L925L,ENSG00000186635:ENST00000359373:exon20:c.G2775A:p.L925L,ENSG00000186635:ENST00000393609:exon20:c.G2775A:p.L925L Score=532;Name=lod=194 NA 11q13.4 NA NA NA NA rs2291289 0.28 0.28 0.258 0.258986 0.4384 0.2569 0.3357 0.0393 0.319 0.41 0.25 0.37 0.05 0.378 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988809 NA NA 0.460168 0.109318 NA 0.297 NA 5.3900986 1113 8 27255263 27255263 A G exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon2:c.A162G:p.K54K,PTK2B:NM_173176:exon2:c.A162G:p.K54K,PTK2B:NM_004103:exon3:c.A162G:p.K54K,PTK2B:NM_173174:exon7:c.A162G:p.K54K exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon1:c.A162G:p.K54K,ENSG00000120899:ENST00000346049:exon2:c.A162G:p.K54K,ENSG00000120899:ENST00000412793:exon2:c.A162G:p.K54K,ENSG00000120899:ENST00000420218:exon2:c.A162G:p.K54K,ENSG00000120899:ENST00000522517:exon2:c.A162G:p.K54K,ENSG00000120899:ENST00000521164:exon3:c.A162G:p.K54K,ENSG00000120899:ENST00000522338:exon4:c.A162G:p.K54K,ENSG00000120899:ENST00000544172:exon6:c.A162G:p.K54K,ENSG00000120899:ENST00000338238:exon7:c.A162G:p.K54K,ENSG00000120899:ENST00000397501:exon7:c.A162G:p.K54K Score=567;Name=lod=269 NA 8p21.2 NA NA NA NA rs1045512 0.34 0.34 0.33 0.317692 0.4304 0.2748 0.3818 0.2057 0.3517 0.44 0.27 0.38 0.22 0.3998 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.399391 1.399391 NA 0.446512 0.23241 ID=COSM150475;OCCURENCE=1(stomach) 0.304 NA 5.3899546 1113 6 38781866 38781866 C G exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon25:c.C3294G:p.S1098S exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000441566:exon21:c.C2643G:p.S881S,ENSG00000124721:ENST00000359357:exon23:c.C2643G:p.S881S,ENSG00000124721:ENST00000327475:exon24:c.C3258G:p.S1086S,ENSG00000124721:ENST00000449981:exon25:c.C3294G:p.S1098S Score=510;Name=lod=158 NA 6p21.2 NA NA NA NA rs1678690 0.5 0.5 0.471 0.501198 0.3748 0.7946 0.5908 0.3124 0.5204 0.38 0.78 0.55 0.33 0.4691 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069729 NA NA 0.433256 0.338856 ID=COSM1131871;OCCURENCE=1(prostate) 0.551 NA 5.3895106 1113 7 66289040 66289040 C T ncRNA_exonic GTF2IRD1P1 NA NA NA ncRNA_exonic ENSG00000230583 NA NA NA Score=608;Name=lod=393 NA 7q11.21 NA NA NA NA rs6460315 0.41 0.41 0.393 0.463259 0.2773 0.4524 0.3516 0.6884 0.4407 0.26 0.44 0.34 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793624 NA NA NA NA NA 0.507 NA 5.3893666 1113 12 80707236 80707236 T A intronic OTOGL NA NA NA intronic ENSG00000165899 NA NA NA NA NA 12q21.31 NA Name=Rad21,CTCF,CTCF_(C-20) Name=20 NA rs11114396 0.16 0.16 0.157 0.183307 0.1958 0.0556 0.2147 0.2103 0.2434 0.19 0.05 0.21 0.22 0.2175 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.206992 NA NA 0.197939 0.184006 NA 0.094 NA 5.388761 1113 19 6733517 6733517 A G intronic GPR108 NA NA NA intronic ENSG00000125734 NA NA NA NA NA 19p13.3 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=6 NA rs339395 0.61 0.61 0.592 0.582668 0.6113 0.5694 0.5764 0.6551 0.4734 0.6 0.59 0.58 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196848 NA NA NA NA NA 0.464 NA 5.3887 1113 1 204945934 204945934 A G exonic NFASC NA synonymous SNV NFASC:NM_001160333:exon15:c.A1824G:p.P608P,NFASC:NM_001005389:exon16:c.A1842G:p.P614P exonic ENSG00000163531 NA synonymous SNV ENSG00000163531:ENST00000403080:exon16:c.A1842G:p.P614P NA NA 1q32.1 NA NA NA NA rs6657372 0.09 0.09 0.083 0.0920527 0.0706 0.0089 0.0648 0.2057 0.0654 0.07 0.01 0.07 0.24 0.095 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.83029 1.83029 NA 0.112442 0.217204 NA 0.109 NA 5.3886246 1113 15 101598314 101598314 C T exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon29:c.C4647T:p.T1549T exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000388948:exon29:c.C4647T:p.T1549T,ENSG00000154237:ENST00000284395:exon30:c.C4638T:p.T1546T Score=524;Name=lod=179 NA 15q26.3 NA NA NA NA rs11853661 0.3 0.3 0.304 0.309904 0.4374 0.1329 0.2795 0.2821 0.4202 0.45 0.13 0.34 0.24 0.3903 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376754 NA NA 0.450399 0.289811 NA 0.377 NA 5.3885676 1113 7 150916228 150916228 G A exonic ABCF2 NA synonymous SNV ABCF2:NM_005692:exon8:c.C939T:p.Y313Y,ABCF2:NM_007189:exon8:c.C939T:p.Y313Y exonic ENSG00000033050 NA synonymous SNV ENSG00000033050:ENST00000222388:exon8:c.C939T:p.Y313Y,ENSG00000033050:ENST00000287844:exon8:c.C939T:p.Y313Y Score=543;Name=lod=215 NA 7q36.1 NA NA NA NA rs6949587 0.46 0.46 0.427 0.419329 0.4563 0.7202 0.4107 0.2095 0.3609 0.45 0.68 0.43 0.23 0.4107 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590718 NA NA 0.411279 0.225148 NA 0.435 NA 5.3883876 1113 9 89699193 89699193 C G ncRNA_exonic LOC494127 NA NA NA ncRNA_exonic ENSG00000224887 NA NA NA Score=590;Name=lod=334 NA 9q21.33 NA NA NA NA rs11141677 0.22 0.22 0.19 0.205272 0.2783 0.2282 0.2061 0.112 0.2321 0.27 0.24 0.2 0.11 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511109 NA NA NA NA NA 0.167 NA 5.3883666 1113 11 73106237 73106237 A C exonic RELT NA synonymous SNV RELT:NM_032871:exon10:c.A1152C:p.P384P,RELT:NM_152222:exon10:c.A1152C:p.P384P exonic ENSG00000054967 NA synonymous SNV ENSG00000054967:ENST00000064780:exon10:c.A1152C:p.P384P,ENSG00000054967:ENST00000393580:exon10:c.A1152C:p.P384P NA NA 11q13.4 NA NA NA NA rs11544311 0.05 0.05 0.044 0.0469249 0.0954 0.0129 0.0476 0.0356 0.047 0.1 0.02 0.03 0.04 0.0838 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788795 NA NA 0.09993 0.043636 ID=COSM429822;OCCURENCE=1(breast) 0.123 NA 5.3875366 1113 1 109836835 109836835 A G UTR3 MYBPHL NM_001265613:c.*26T>C,NM_001010985:c.*26T>C NA NA UTR3 ENSG00000221986 ENST00000357155:c.*26T>C NA NA NA NA 1p13.3 NA Name=ELF1_(SC-631) Name=61 NA rs3738777 0.32 0.32 0.292 0.324081 0.3211 0.4732 0.3501 0.093 0.4673 0.34 0.47 0.3 0.12 0.3216 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109053 NA NA 0.303256 0.11961 NA 0.261 NA 5.3873774 1113 14 107083138 107083138 C A intergenic LINC00221,NONE dist=131609;dist=NONE NA NA intronic ENSG00000224373 NA NA NA NA NA 14q32.33 NA Name=CTCF_(C-20),TCF12,ZNF263,CTCF_(SC-5916),Rad21,CTCF,Znf143_(16618-1-AP),CTCFL_(SC-98982) Name=31 NA rs11623505 0.33 0.33 0.265 0.394369 0.2793 0.4236 0.3343 0.3351 0.6053 0.27 0.39 0.33 0.35 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.368711 NA NA NA NA NA 0.152 NA 5.3873667 1113 6 32363955 32363955 T C exonic BTNL2 NA synonymous SNV BTNL2:NM_019602:exon5:c.A939G:p.V313V exonic ENSG00000204290 NA synonymous SNV ENSG00000204290:ENST00000414363:exon3:c.A309G:p.V103V,ENSG00000204290:ENST00000540315:exon3:c.A309G:p.V103V,ENSG00000204290:ENST00000429232:exon4:c.A660G:p.V220V,ENSG00000204290:ENST00000544175:exon4:c.A108G:p.V36V,ENSG00000204290:ENST00000374993:exon5:c.A939G:p.V313V,ENSG00000204290:ENST00000374995:exon5:c.A657G:p.V219V,ENSG00000204290:ENST00000454136:exon5:c.A939G:p.V313V NA Name=Waist-hip ratio 6p21.32 NA NA NA NA rs2076529 0.36 0.36 0.355 0.376997 0.4364 0.2728 0.4784 0.3268 0.4192 0.42 0.31 0.48 0.25 0.4126 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134769 NA NA 0.430786 0.320979 NA 0.449 NA 5.3868806 1113 2 233321641 233321641 C T exonic ALPI NA synonymous SNV ALPI:NM_001631:exon4:c.C333T:p.S111S exonic ENSG00000163295 NA synonymous SNV ENSG00000163295:ENST00000295463:exon4:c.C333T:p.S111S NA NA 2q37.1 NA NA NA NA rs61732032 0.09 0.09 0.083 0.0942492 0.1064 0.0804 0.0807 0.112 0.0818 0.1 0.08 0.08 0.1 0.0914 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524246 NA NA 0.082209 0.111439 ID=COSM442478;OCCURENCE=1(breast) 0.101 NA 5.3866576 1113 1 158390252 158390252 T G exonic OR10K2 NA synonymous SNV OR10K2:NM_001004476:exon1:c.A405C:p.L135L exonic ENSG00000180708 NA synonymous SNV ENSG00000180708:ENST00000314902:exon1:c.A405C:p.L135L Score=295;Name=lod=21 NA 1q23.1 NA NA NA NA rs12239443 0.31 0.31 0.291 0.290136 0.4592 0.1687 0.2709 0.2526 0.3057 0.48 0.19 0.3 0.22 0.3825 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4628 NA NA 0.438372 0.268498 NA 0.312 NA 5.3865946 1113 19 41825776 41825776 A G intronic CCDC97 NA NA NA intronic ENSG00000105329,ENSG00000142039 NA NA NA NA NA 19q13.2 NA Name=Pol2-4H8 Name=9 NA rs3826714 0.25 0.25 0.245 0.248602 0.1859 0.3532 0.2046 0.2935 0.1759 0.18 0.34 0.22 0.28 0.2596 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.160258 2.160258 NA 0.168063 0.27475 NA 0.232 NA 5.386437 1113 6 26033828 26033828 G A upstream HIST1H2AB NA NA NA upstream ENSG00000137259 NA NA NA NA NA 6p22.2 NA Name=NFKB,HEY1,IRF3,SETDB1,GTF2B,p300,p300_(N-15),CHD2_(N-1250),GATA2_(CG2-96),GTF2F1_(RAP-74),IRF1,CEBPB,TBP,NF-YA,Pol2(b),TAF1,HMGN3,E2F4,Pol2(phosphoS2),SP1,Pol2,NELFe,c-Fos,Pol2-4H8,BCLAF1_(M33-P5B11),TAF7_(SQ-8),Sin3Ak-20,HA-E2F1 Name=148 NA rs3830054 0.23 0.23 0.195 0.215655 0.0686 0.5149 0.268 0.0741 0.2127 0.08 0.56 0.21 0.09 0.1452 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220894 NA NA 0.06686 0.089424 NA 0.109 NA 5.3860066 1113 1 204006451 204006451 G A ncRNA_intronic LINC00303 NA NA NA ncRNA_exonic ENSG00000176754 NA NA NA NA NA 1q32.1 NA Name=CTCF NA NA rs41264275 0.24 0.24 0.215 0.211661 0.2813 0.25 0.2781 0.0439 0.2802 0.3 0.27 0.3 0.07 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193404 NA NA NA NA NA 0.188 NA 5.3853666 1113 15 76032283 76032283 A G ncRNA_exonic DNM1P35 NA NA NA ncRNA_intronic ENSG00000260288 NA NA NA Score=667;Name=lod=687 NA 15q24.2 NA NA NA NA rs34605750 0.24 0.24 0.19 0.235823 0.2813 0.2391 0.3545 0.1505 0.2168 0.29 0.2 0.31 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070607 NA NA NA NA NA 0.326 NA 5.3853666 1113 1 5937168 5937168 G A exonic NPHP4 NA synonymous SNV NPHP4:NM_015102:exon20:c.C2802T:p.R934R exonic ENSG00000131697 NA synonymous SNV ENSG00000131697:ENST00000378156:exon20:c.C2802T:p.R934R NA NA 1p36.31 NA NA NA NA rs3747992 0.48 0.48 0.467 0.453474 0.4225 0.7341 0.4597 0.2859 0.4182 0.44 0.74 0.4 0.3 0.4751 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12077 NA NA 0.38371 0.290047 ID=COSM426517;OCCURENCE=2(breast) 0.348 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081712.1;CLNDSDB=.;CLNDSDBID=. 5.3853566 1113 7 122033379 122033379 A G intronic CADPS2 NA NA NA ncRNA_intronic ENSG00000240499 NA NA NA Score=745;Name=lod=1422 NA 7q31.32 Score=1000;Name=V$SRY_01 NA NA NA rs2074588 0.32 0.32 0.3 0.31889 0.3062 0.3869 0.3948 0.2436 0.3098 0.29 0.42 0.39 0.21 0.3258 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.102771 4.102771 NA 0.316004 0.241629 NA 0.312 NA 5.3853293 1114 6 150210802 150210802 A G ncRNA_intronic LOC100652739 NA NA NA ncRNA_intronic ENSG00000223701,ENSG00000268592 NA NA NA NA NA 6q25.1 NA Name=c-Jun,Pol2(phosphoS2),GTF2F1_(RAP-74) Name=19 NA rs6933882 0.55 0.55 0.521 0.546326 0.4195 0.8859 0.5058 0.4554 0.4785 0.41 0.87 0.51 0.43 0.4612 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138767 NA NA 0.401395 0.455969 NA 0.587 NA 5.3845716 1114 1 207087435 207087435 C T exonic FAIM3 NA synonymous SNV FAIM3:NM_001193338:exon2:c.G42A:p.S14S,FAIM3:NM_005449:exon2:c.G42A:p.S14S exonic ENSG00000162894 NA synonymous SNV ENSG00000162894:ENST00000367091:exon2:c.G42A:p.S14S,ENSG00000162894:ENST00000420007:exon2:c.G42A:p.S14S,ENSG00000162894:ENST00000463473:exon2:c.G42A:p.S14S,ENSG00000162894:ENST00000525793:exon3:c.G42A:p.S14S,ENSG00000162894:ENST00000529560:exon3:c.G42A:p.S14S,ENSG00000162894:ENST00000530505:exon3:c.G135A:p.S45S NA NA 1q32.1 NA NA Name=2 NA rs167082 0.3 0.3 0.278 0.244209 0.4543 0.1339 0.3069 0.1717 0.1953 0.45 0.14 0.36 0.19 0.3624 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630756 NA NA 0.46593 0.20177 NA 0.399 NA 5.3840366 1114 20 61464440 61464440 G A intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA Name=Pol2 Name=8 NA rs1018440 0.23 0.23 0.229 0.241414 0.2177 0.0496 0.183 0.5499 0.0879 0.21 0.06 0.19 0.49 0.1917 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070837 NA NA 0.206676 0.483878 NA 0.167 NA 5.383924 1114 4 48412997 48412997 C T intronic SLAIN2 NA NA NA intronic ENSG00000109171 NA NA NA NA NA 4p11 NA Name=NANOG_(SC-33759) Name=3 NA rs6836010 0.48 0.48 0.465 0.51258 0.6163 0.5069 0.4755 0.3177 0.7014 0.61 0.46 0.47 0.32 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253425 NA NA NA NA NA 0.514 NA 5.3837 1114 12 94942223 94942223 T C intergenic LOC144486,MIR5700 dist=85879;dist=13342 NA NA ncRNA_exonic ENSG00000236349 NA NA NA Score=638;Name=lod=523 NA 12q22 NA Name=CTCF NA NA rs7139313 0.72 0.72 0.715 0.725839 0.6163 0.879 0.7421 0.7436 0.6452 0.61 0.88 0.72 0.72 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592609 NA NA NA NA NA 0.71 NA 5.3837 1114 6 38841101 38841101 G A exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon52:c.G7569A:p.K2523K exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000441566:exon47:c.G6810A:p.K2270K,ENSG00000124721:ENST00000359357:exon50:c.G6918A:p.K2306K,ENSG00000124721:ENST00000327475:exon51:c.G7533A:p.K2511K,ENSG00000124721:ENST00000449981:exon52:c.G7569A:p.K2523K Score=363;Name=lod=40 NA 6p21.2 NA NA NA NA rs9380795 0.53 0.53 0.505 0.533347 0.3767 0.8333 0.6138 0.3601 0.5624 0.38 0.83 0.57 0.39 0.4782 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496995 NA NA 0.42814 0.359283 NA 0.601 NA 5.3836266 1114 13 25507339 25507339 T A ncRNA_exonic TPTE2P1 NA NA NA ncRNA_intronic ENSG00000253771 NA NA NA NA NA 13q12.13 NA NA Name=2 NA rs8002258 0.27 0.27 0.237 0.249201 0.2833 0.2272 0.3732 0.1906 0.228 0.3 0.26 0.37 0.14 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69625 NA NA NA NA NA 0.239 NA 5.3833666 1114 13 25507354 25507354 A G ncRNA_exonic TPTE2P1 NA NA NA ncRNA_intronic ENSG00000253771 NA NA NA NA NA 13q12.13 NA NA Name=2 NA rs7997570 0.27 0.27 0.235 0.249201 0.2833 0.2272 0.3732 0.1906 0.228 0.3 0.26 0.37 0.14 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012352 NA NA NA NA NA 0.239 NA 5.3833666 1114 17 21731041 21731041 G A intergenic C17orf51,FAM27L dist=276100;dist=94329 NA NA exonic ENSG00000263563 NA nonsynonymous SNV ENSG00000263563:ENST00000578713:exon1:c.G343A:p.D115N,ENSG00000263563:ENST00000584755:exon2:c.G343A:p.D115N Score=861;Name=lod=4226 NA 17p11.2 NA NA NA NA rs145087783 0.18 0.18 0.134 0.183706 0.2406 0.1587 0.1628 0.0764 0.3108 0.24 0.16 0.21 0.09 0.2102 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047866 NA NA NA NA NA 0.159 NA 5.3825334 1114 5 141036337 141036337 A G exonic ARAP3 NA synonymous SNV ARAP3:NM_022481:exon26:c.T3603C:p.A1201A exonic ENSG00000120318 NA synonymous SNV ENSG00000120318:ENST00000513878:exon20:c.T2589C:p.A863A,ENSG00000120318:ENST00000508305:exon25:c.T3096C:p.A1032A,ENSG00000120318:ENST00000239440:exon26:c.T3603C:p.A1201A Score=623;Name=lod=454 NA 5q31.3 NA NA NA NA rs7703648 0.5 0.5 0.476 0.48143 0.4314 0.3889 0.4885 0.7065 0.319 0.44 0.41 0.49 0.68 0.4489 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.845926 NA NA 0.40407 0.652065 ID=COSM149956;OCCURENCE=1(stomach) 0.551 NA 5.3822966 1114 19 9065510 9065510 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C21936T:p.F7312F exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C21936T:p.F7312F NA NA 19p13.2 NA NA NA NA rs1867692 0.17 0.17 0.175 0.180911 0.0895 0.2679 0.1196 0.2458 0.1411 0.09 0.3 0.11 0.2 0.1171 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210073 NA NA 0.078045 0.218993 NA 0.196 NA 5.3820216 1114 11 11374269 11374269 A G exonic CSNK2A3 NA nonsynonymous SNV CSNK2A3:NM_001256686:exon1:c.T398C:p.I133T exonic ENSG00000254598 NA nonsynonymous SNV ENSG00000254598:ENST00000528848:exon1:c.T398C:p.I133T NA NA 11p15.3 NA NA NA NA rs2071460 0.45 0.45 0.429 0.420527 0.4791 0.5248 0.4553 0.1906 0.5389 0.5 0.54 0.48 0.24 0.4731 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175569 NA NA NA NA ID=COSN405261;OCCURENCE=1(lung) 0.341 NA 5.3811334 1114 3 180630565 180630565 T C intronic FXR1 NA NA NA intronic ENSG00000114416 NA NA NA NA NA 3q26.33 NA Name=ETS1,TAF1,Pol2(b),POU2F2,Pol2(phosphoS2),YY1,Pol2,Pol2-4H8,TAF7_(SQ-8),YY1_(C-20),HEY1,NFKB,Oct-2,p300,TBP Name=148 NA rs1805579 0.14 0.14 0.128 0.165935 0.2068 0.1627 0.1527 0.0719 0.2638 0.19 0.11 0.17 0.07 0.1909 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.875573 NA NA 0.221512 0.093963 NA 0.123 NA 5.380788 1114 5 79596274 79596274 C T ncRNA_exonic LOC644936 NA NA NA ncRNA_exonic ENSG00000184188 NA NA NA Score=859;Name=lod=4113 NA 5q14.1 NA NA NA NA rs35486429 0.35 0.35 0.347 0.34365 0.2863 0.3522 0.2997 0.4213 0.32 0.3 0.37 0.31 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040962 NA NA NA NA NA 0.312 NA 5.3803666 1114 3 186501502 186501502 C A intronic EIF4A2 NA NA NA ncRNA_exonic ENSG00000263826 NA NA NA NA NA 3q27.3 NA Name=ZBTB33,POU2F2,ETS1,Pol2(b),GATA-1,TAF1,TR4,Pol2-4H8,KAP1,BCLAF1_(M33-P5B11),TAF7_(SQ-8),Sin3Ak-20,YY1_(C-20),Pol2(phosphoS2),NRSF,SP1,NELFe,Pol2,Oct-2,PAX5-C20,NFKB,ZEB1_(SC-25388),HEY1,BCL3,c-Myc,TBP,TCF12 Name=148 NA rs266720 0.48 0.48 0.481 0.467053 0.4861 0.4504 0.4856 0.4561 0.4663 0.49 0.48 0.46 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172279 NA NA 0.467002 0.482659 NA 0.297 NA 5.3802313 1114 3 167506967 167506967 A G exonic SERPINI1 NA synonymous SNV SERPINI1:NM_001122752:exon2:c.A51G:p.T17T,SERPINI1:NM_005025:exon2:c.A51G:p.T17T exonic ENSG00000163536 NA synonymous SNV ENSG00000163536:ENST00000295777:exon2:c.A51G:p.T17T,ENSG00000163536:ENST00000446050:exon2:c.A51G:p.T17T,ENSG00000163536:ENST00000472747:exon2:c.A51G:p.T17T,ENSG00000163536:ENST00000472941:exon2:c.A51G:p.T17T NA NA 3q26.1 NA NA NA NA rs34582040 0.11 0.11 0.107 0.114217 0.1004 0.0516 0.1542 0.2057 0.0409 0.1 0.06 0.12 0.2 0.098 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253564 NA NA 0.08814 0.198366 NA 0.116 NA 5.3801266 1114 22 50315973 50315973 G C exonic CRELD2 NA synonymous SNV CRELD2:NM_001135101:exon6:c.G621C:p.P207P exonic ENSG00000184164 NA synonymous SNV ENSG00000184164:ENST00000404488:exon6:c.G621C:p.P207P NA NA 22q13.33 NA NA NA NA rs12160965 0.23 0.23 0.177 0.249401 0.1382 0.1181 0.134 0.5658 0.1534 0.15 0.12 0.15 0.55 0.0471 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29333 NA NA 0.101565 0.293282 NA 0.101 NA 5.3798016 1114 5 146435163 146435163 G A intronic PPP2R2B NA NA NA intronic ENSG00000156475 NA NA NA Score=706;Name=lod=983 NA 5q32 Score=932;Name=V$IK2_01 NA NA NA rs11958187 0.47 0.47 0.462 0.474042 0.6203 0.3165 0.5447 0.3767 0.5675 0.62 0.28 0.61 0.37 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.890616 2.890616 NA NA NA ID=COSN167589;OCCURENCE=1(large_intestine) 0.522 NA 5.3797 1114 19 9070079 9070079 C G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.G17367C:p.T5789T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G17367C:p.T5789T NA NA 19p13.2 NA NA NA NA rs1559170 0.19 0.19 0.186 0.192891 0.0845 0.2679 0.1859 0.2602 0.1411 0.09 0.3 0.16 0.22 0.1248 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577361 NA NA 0.077772 0.229778 NA 0.203 NA 5.3795946 1114 6 32522679 32522679 G C ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA Score=455;Name=lod=94 NA 6p21.32 NA NA NA NA rs112103446 NA NA NA 0.322085 0.2873 0.2976 0.2709 0.4327 0.2699 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059309 NA NA NA NA NA NA NA 5.3793666 1114 15 76031587 76031587 G T ncRNA_intronic DNM1P35 NA NA NA ncRNA_intronic ENSG00000260288 NA NA NA NA NA 15q24.2 NA Name=YY1,YY1_(C-20) NA NA rs4886457 0.28 0.28 0.299 0.303714 0.2873 0.4048 0.2939 0.1127 0.4816 0.28 0.41 0.28 0.12 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46032 NA NA NA NA NA 0.239 NA 5.3793666 1114 1 118583408 118583408 G A exonic SPAG17 NA synonymous SNV SPAG17:NM_206996:exon22:c.C3111T:p.Y1037Y exonic ENSG00000155761 NA synonymous SNV ENSG00000155761:ENST00000336338:exon22:c.C3111T:p.Y1037Y Score=487;Name=lod=127 NA 1p12 NA NA NA NA rs10923477 0.29 0.29 0.266 0.288538 0.4324 0.1567 0.4135 0.1573 0.365 0.44 0.12 0.44 0.15 0.3988 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482345 NA NA 0.456163 0.202905 NA 0.406 NA 5.3793036 1114 4 190862287 190862287 C T intronic FRG1 NA NA NA intronic ENSG00000109536 NA NA NA NA NA 4q35.2 NA Name=TBP,THAP1_(SC-98174),PAX5-C20,Sin3Ak-20,SP1,Pol2,Egr-1 Name=20 NA rs4145517 0.29 0.29 0.271 0.265775 0.3221 0.2748 0.2176 0.2345 0.2751 0.33 0.27 0.28 0.28 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897559 NA NA 0.298615 0.24711 NA 0.101 NA 5.379285 1114 2 224862821 224862821 C T intronic SERPINE2 NA NA NA intronic ENSG00000135919 NA NA NA NA NA 2q36.1 NA Name=HNF4G_(SC-6558),RXRA,CEBPB,p300,HNF4A_(H-171),JunD,HDAC2_(SC-6296),SP1,HNF4A Name=29 NA rs3795879 0.28 0.28 0.292 0.286342 0.2028 0.129 0.2248 0.587 0.1718 0.19 0.13 0.26 0.59 0.215 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277312 NA NA 0.203023 0.513618 NA 0.246 NA 5.379177 1114 2 206565500 206565500 C T intronic NRP2 NA NA NA intronic ENSG00000118257 NA NA NA NA NA 2q33.3 NA Name=SP1,GATA-2,FOSL2,MafF_(M8194),POU2F2,p300,FOXA1_(SC-101058),GR,Oct-2 Name=117 NA rs3771051 0.13 0.13 0.121 0.112819 0.2207 0.0446 0.1427 0.0772 0.0992 0.21 0.05 0.15 0.09 0.1685 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.999749 1.999749 NA 0.232295 0.079909 NA 0.116 NA 5.378505 1114 5 64919877 64919877 C G intronic TRIM23 NA NA NA intronic ENSG00000113595 NA NA NA NA NA 5q12.3 NA Name=CTCF,ZBTB7A_(SC-34508),Rad21 Name=5 NA rs462907 0.63 0.63 0.65 0.66853 0.6223 0.4147 0.5375 0.9561 0.682 0.64 0.41 0.56 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760091 NA NA NA NA NA 0.826 NA 5.3777 1114 21 43496017 43496017 C G intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA Name=Rad21,CTCF,CTCF_(SC-5916) Name=4 NA rs220285 0.48 0.48 0.48 0.44988 0.6223 0.1677 0.5014 0.5197 0.4325 0.64 0.2 0.52 0.51 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138437 NA NA NA NA NA 0.377 NA 5.3777 1114 16 716287 716287 C A exonic WDR90 NA synonymous SNV WDR90:NM_145294:exon37:c.C4677A:p.T1559T exonic ENSG00000161996 NA synonymous SNV ENSG00000161996:ENST00000315764:exon3:c.C474A:p.T158T,ENSG00000161996:ENST00000547944:exon3:c.C474A:p.T158T,ENSG00000161996:ENST00000293879:exon37:c.C4677A:p.T1559T,ENSG00000161996:ENST00000549091:exon37:c.C4683A:p.T1561T NA NA 16p13.3 NA NA NA NA rs9934288 0.16 0.16 0.124 0.166534 0.0765 0.3065 0.1412 0.1815 0.1125 0.06 0.31 0.09 0.17 0.1238 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036565 NA NA 0.0887 0.150493 NA 0.101 NA 5.3776666 1114 6 57512510 57512510 T G exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*297T>G NA NA Score=516;Name=lod=166 NA 6p11.2 Score=756;Name=V$MEF2_04 NA NA NA rs4294007 NA NA NA 0.629193 0.5905 0.4514 0.5115 0.8275 0.6677 NA NA NA NA 0.6987 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.521173 2.521173 1 NA NA NA 0.688 NA 5.3774667 1114 14 107083126 107083126 T A intergenic LINC00221,NONE dist=131597;dist=NONE NA NA intronic ENSG00000224373 NA NA NA NA NA 14q32.33 NA Name=TCF12,CTCF_(C-20),ZNF263,CTCF_(SC-5916),CTCF,Rad21,CTCFL_(SC-98982),Znf143_(16618-1-AP) Name=31 NA rs11628176 0.33 0.33 0.274 0.39996 0.2893 0.373 0.3415 0.3843 0.6043 0.27 0.38 0.34 0.37 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374699 NA NA NA NA NA 0.13 NA 5.3773667 1114 13 31725260 31725260 A G exonic HSPH1 NA synonymous SNV HSPH1:NM_006644:exon7:c.T732C:p.F244F exonic ENSG00000120694 NA synonymous SNV ENSG00000120694:ENST00000429785:exon5:c.T189C:p.F63F,ENSG00000120694:ENST00000380406:exon6:c.T609C:p.F203F,ENSG00000120694:ENST00000320027:exon7:c.T732C:p.F244F,ENSG00000120694:ENST00000380405:exon7:c.T732C:p.F244F,ENSG00000120694:ENST00000445273:exon7:c.T738C:p.F246F Score=538;Name=lod=205 NA 13q12.3 NA NA NA NA rs11556147 0.27 0.27 0.28 0.225839 0.4642 0.0109 0.2723 0.2451 0.1431 0.47 0.0017 0.3 0.26 0.3529 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541932 NA NA 0.472209 0.286201 NA 0.326 NA 5.3773576 1114 13 31729729 31729729 A G exonic HSPH1 NA synonymous SNV HSPH1:NM_006644:exon3:c.T228C:p.N76N exonic ENSG00000120694 NA synonymous SNV ENSG00000120694:ENST00000320027:exon3:c.T228C:p.N76N,ENSG00000120694:ENST00000380405:exon3:c.T228C:p.N76N,ENSG00000120694:ENST00000380406:exon3:c.T228C:p.N76N,ENSG00000120694:ENST00000445273:exon3:c.T234C:p.N78N,ENSG00000120694:ENST00000602786:exon3:c.T228C:p.N76N Score=617;Name=lod=431 NA 13q12.3 NA NA NA NA rs1047086 0.27 0.27 0.284 0.225839 0.4642 0.0109 0.2723 0.2451 0.1431 0.47 0.0017 0.3 0.26 0.3527 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100592 NA NA 0.472442 0.286201 NA 0.326 NA 5.3773246 1114 17 78820212 78820212 G A intronic RPTOR NA NA NA intronic ENSG00000141564 NA NA NA NA NA 17q25.3 NA Name=TCF12,CTCF_(C-20),CTCF Name=9 NA rs3829572 0.44 0.44 0.413 0.423123 0.6233 0.4306 0.5259 0.0825 0.5971 0.64 0.41 0.54 0.11 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065863 NA NA NA NA NA 0.435 NA 5.3767 1114 5 96129512 96129512 A G exonic ERAP1 NA synonymous SNV ERAP1:NM_001040458:exon6:c.T1068C:p.A356A,ERAP1:NM_001198541:exon6:c.T1068C:p.A356A,ERAP1:NM_016442:exon6:c.T1068C:p.A356A exonic ENSG00000164307 NA synonymous SNV ENSG00000164307:ENST00000296754:exon6:c.T1068C:p.A356A,ENSG00000164307:ENST00000443439:exon6:c.T1068C:p.A356A NA Name=Ankylosing spondylitis 5q15 Score=841;Name=V$RORA2_01 NA NA NA rs27434 0.65 0.65 0.63 0.650759 0.7883 0.5456 0.7118 0.5825 0.6667 0.79 0.51 0.7 0.55 0.7221 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169317 NA NA 0.779651 0.602587 NA 0.674 NA 5.3766156 1114 22 24036563 24036563 G A exonic RGL4 NA synonymous SNV RGL4:NM_153615:exon5:c.G942A:p.S314S exonic ENSG00000159496 NA synonymous SNV ENSG00000159496:ENST00000290691:exon5:c.G942A:p.S314S,ENSG00000159496:ENST00000423392:exon5:c.G942A:p.S314S,ENSG00000159496:ENST00000401461:exon6:c.G534A:p.S178S,ENSG00000159496:ENST00000441897:exon7:c.G942A:p.S314S NA NA 22q11.23 NA NA NA NA rs2070447 0.13 0.13 0.117 0.11881 0.0915 0.2798 0.1009 0.0113 0.1391 0.11 0.27 0.09 0.01 0.1124 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190708 NA NA 0.086163 0.029051 NA 0.123 NA 5.3766036 1114 2 68415767 68415767 G A exonic PPP3R1 NA synonymous SNV PPP3R1:NM_000945:exon3:c.C99T:p.D33D exonic ENSG00000221823 NA synonymous SNV ENSG00000221823:ENST00000234310:exon3:c.C99T:p.D33D,ENSG00000221823:ENST00000409377:exon3:c.C69T:p.D23D,ENSG00000221823:ENST00000409752:exon3:c.C156T:p.D52D,ENSG00000221823:ENST00000406334:exon4:c.C69T:p.D23D Score=745;Name=lod=1423 NA 2p14 NA NA NA NA rs687 0.49 0.49 0.457 0.515575 0.4195 0.494 0.4798 0.5227 0.6524 0.43 0.5 0.51 0.55 0.4761 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.081082 NA NA 0.394569 0.481957 NA 0.406 NA 5.3764976 1114 6 29912852 29912852 T C exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon6:c.T1029C:p.S343S,HLA-A:NM_002116:exon6:c.T1029C:p.S343S exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376806:exon6:c.T1047C:p.S349S,ENSG00000206503:ENST00000376809:exon6:c.T1029C:p.S343S,ENSG00000206503:ENST00000396634:exon8:c.T1029C:p.S343S NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs1137296 0.65 0.65 0.512 0.686502 0.6342 0.6885 0.7752 0.73 0.6166 0.58 0.69 0.72 0.66 0.6564 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135527 NA NA NA NA NA 0.536 NA 5.3760666 1114 12 122079441 122079441 T C exonic ORAI1 NA synonymous SNV ORAI1:NM_032790:exon2:c.T804C:p.T268T exonic ENSG00000182500 NA synonymous SNV ENSG00000182500:ENST00000330079:exon2:c.T804C:p.T268T Score=515;Name=lod=165 NA 12q24.31 NA NA NA NA rs3825175 0.53 0.53 0.517 0.555711 0.3976 0.5823 0.4755 0.7269 0.5164 0.4 0.58 0.46 0.74 0.4733 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457777 NA NA 0.419849 0.698308 NA 0.587 NA 5.3759176 1114 1 109735298 109735298 T C exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267049:exon6:c.T699C:p.G233G,KIAA1324:NM_001267048:exon12:c.T1488C:p.G496G,KIAA1324:NM_020775:exon14:c.T1749C:p.G583G exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000529753:exon12:c.T1488C:p.G496G,ENSG00000116299:ENST00000457623:exon13:c.T1599C:p.G533G,ENSG00000116299:ENST00000369939:exon14:c.T1749C:p.G583G NA NA 1p13.3 NA Name=ELF1_(SC-631) Name=14 NA rs658779 0.75 0.75 0.713 0.741613 0.7565 0.999 0.8055 0.3593 0.9325 0.78 1 0.8 0.39 0.7832 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019141 NA NA 0.751512 0.411938 NA 0.761 NA 5.3754546 1114 19 11406952 11406952 A G UTR5 TSPAN16 NM_012466:c.-22A>G NA NA UTR5 ENSG00000130167 ENST00000316737:c.-22A>G,ENST00000592955:c.-22A>G,ENST00000590327:c.-22A>G,ENST00000337994:c.-22A>G NA NA NA NA 19p13.2 NA Name=CEBPB Name=29 NA rs374409 0.42 0.42 0.429 0.45028 0.2932 0.2718 0.3473 0.848 0.3313 0.29 0.26 0.36 0.83 0.3576 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810264 NA NA 0.307209 0.771902 ID=COSN165729;OCCURENCE=1(breast) 0.565 NA 5.3753244 1114 19 15838967 15838967 G A exonic OR10H2 NA synonymous SNV OR10H2:NM_013939:exon1:c.G114A:p.T38T exonic ENSG00000171942 NA synonymous SNV ENSG00000171942:ENST00000305899:exon1:c.G114A:p.T38T Score=483;Name=lod=123 NA 19p13.12 NA NA NA NA rs2285955 0.36 0.36 0.374 0.350439 0.4394 0.3135 0.3112 0.233 0.4836 0.45 0.34 0.32 0.28 0.4047 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29784 1.29784 NA 0.447301 0.27803 NA 0.384 NA 5.3752656 1115 1 119157909 119157909 C T intergenic SPAG17,TBX15 dist=430061;dist=267757 NA NA ncRNA_exonic ENSG00000226126 NA NA NA Score=838;Name=lod=3396 NA 1p12 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs1009458 0.62 0.62 0.643 0.616014 0.6252 0.3958 0.6643 0.8306 0.5092 0.62 0.43 0.65 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214593 NA NA NA NA NA 0.783 NA 5.3748 1115 1 205589574 205589574 C T exonic ELK4 NA synonymous SNV ELK4:NM_001973:exon3:c.G600A:p.P200P,ELK4:NM_021795:exon3:c.G600A:p.P200P exonic ENSG00000158711 NA synonymous SNV ENSG00000158711:ENST00000289703:exon3:c.G600A:p.P200P,ENSG00000158711:ENST00000357992:exon3:c.G600A:p.P200P NA NA 1q32.1 NA NA NA NA rs1064406 0.15 0.15 0.135 0.195887 0.0706 0.37 0.1153 0.146 0.2699 0.07 0.32 0.09 0.12 0.1306 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159032 NA NA 0.090698 0.130277 NA 0.145 NA 5.3747686 1115 11 4929061 4929061 C G exonic OR51A7 NA synonymous SNV OR51A7:NM_001004749:exon1:c.C462G:p.L154L exonic ENSG00000176895 NA synonymous SNV ENSG00000176895:ENST00000359350:exon1:c.C462G:p.L154L NA NA 11p15.4 NA NA NA NA rs10500627 0.21 0.21 0.206 0.177915 0.0845 0.5437 0.1527 0.0613 0.0726 0.09 0.55 0.13 0.08 0.1299 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.256828 NA NA 0.077827 0.076102 ID=COSM147113;OCCURENCE=1(stomach) 0.072 NA 5.3744396 1115 7 100550245 100550245 G A intergenic ACHE,MUC12 dist=56704;dist=62659 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.G826A:p.A276T NA NA 7q22.1 NA NA NA NA rs66732041 NA NA NA 0.0213658 NA NA 0.0029 0.0787 0.001 NA NA NA NA 0.4601 0.054 1 T . . . . . . . . -0.345 N . . -0.964 T 0.028 T 0.057 -0.604 1.305 -0.711 -0.690 -0.148 4.816 -0.603875 NA 0.72 NA NA ID=COSM304008;OCCURENCE=1(central_nervous_system) 0.043 NA 5.3732334 1115 17 67519542 67519542 G A intronic MAP2K6 NA NA NA intronic ENSG00000108984 NA NA NA NA NA 17q24.3 NA Name=CEBPB,CTCF,Rad21,YY1_(C-20),SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916),RFX5_(N-494),YY1 Name=132 NA rs2251160 0.58 0.58 0.594 0.585863 0.6272 0.4722 0.4712 0.7118 0.5716 0.62 0.46 0.5 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555192 NA NA NA NA NA 0.652 NA 5.3728 1115 19 3762926 3762926 G A intronic MRPL54 NA NA NA intronic ENSG00000183617 NA NA NA NA NA 19p13.3 NA Name=E2F4,Pol2,Pol2(b),Pol2-4H8,NFKB,HEY1,Nrf1 Name=148 NA rs7245624 0.61 0.61 0.592 0.595248 0.6272 0.6647 0.5865 0.4697 0.6667 0.63 0.67 0.6 0.49 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.704926 1.704926 NA NA NA NA 0.551 NA 5.3728 1115 1 229461024 229461024 C T exonic CCSAP NA synonymous SNV CCSAP:NM_145257:exon4:c.G771A:p.P257P exonic ENSG00000154429 NA synonymous SNV ENSG00000154429:ENST00000366686:exon3:c.G429A:p.P143P,ENSG00000154429:ENST00000366687:exon3:c.G771A:p.P257P,ENSG00000154429:ENST00000284617:exon4:c.G771A:p.P257P NA NA 1q42.13 Score=788;Name=V$ROAZ_01 NA NA NA rs2282083 0.39 0.39 0.345 0.358826 0.4493 0.3859 0.5101 0.2126 0.3282 0.44 0.42 0.51 0.19 0.4124 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926681 NA NA 0.432907 0.24739 NA 0.37 NA 5.3720596 1115 4 110384790 110384790 A G exonic SEC24B NA synonymous SNV SEC24B:NM_001042734:exon2:c.A867G:p.P289P,SEC24B:NM_006323:exon2:c.A867G:p.P289P exonic ENSG00000138802 NA synonymous SNV ENSG00000138802:ENST00000265175:exon2:c.A867G:p.P289P,ENSG00000138802:ENST00000399100:exon2:c.A867G:p.P289P,ENSG00000138802:ENST00000504968:exon3:c.A960G:p.P320P NA NA 4q25 NA NA NA NA rs33911248 0.07 0.07 0.073 0.0708866 0.0934 NA 0.0591 0.1051 0.0828 0.09 NA 0.06 0.11 0.0948 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44626 NA NA 0.106444 0.120638 NA 0.116 NA 5.3720226 1115 1 26607123 26607123 C T intronic SH3BGRL3 NA NA NA intronic ENSG00000142669 NA NA NA NA NA 1p36.11 NA Name=eGFP-JunD,c-Jun,NRSF,ZBTB7A_(SC-34508),FOSL1_(SC-183) Name=65 NA rs12759434 0.46 0.46 0.457 0.392772 0.6282 0.3085 0.402 0.3525 0.2853 0.63 0.3 0.44 0.4 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.715985 1.715985 NA NA NA NA 0.297 NA 5.3718 1115 15 22414262 22414262 C T ncRNA_exonic OR4N3P NA NA NA ncRNA_exonic ENSG00000259435 NA NA NA Score=259;Name=lod=15 NA 15q11.2 NA NA NA NA rs1429510 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA 0.2951 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049201 NA NA NA NA NA 0.123 NA 5.3715666 1115 15 101093767 101093767 C T ncRNA_exonic PRKXP1 NA NA NA ncRNA_exonic ENSG00000259205 NA NA NA Score=624;Name=lod=456 NA 15q26.3 NA NA NA NA rs62037117 0.23 0.23 0.225 0.246006 0.2952 0.0694 0.2003 0.3563 0.2607 0.28 0.07 0.23 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091257 NA NA NA NA NA 0.319 NA 5.3714666 1115 15 101094174 101094174 C T ncRNA_exonic PRKXP1 NA NA NA ncRNA_exonic ENSG00000259205 NA NA NA Score=686;Name=lod=817 NA 15q26.3 NA NA NA NA rs35852295 0.25 0.25 0.232 0.257388 0.2952 0.0694 0.2003 0.3986 0.2618 0.28 0.07 0.23 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205366 NA NA NA NA NA 0.319 NA 5.3714666 1115 11 18633971 18633971 G A exonic SPTY2D1 NA synonymous SNV SPTY2D1:NM_194285:exon4:c.C1776T:p.D592D exonic ENSG00000179119 NA synonymous SNV ENSG00000179119:ENST00000336349:exon4:c.C1776T:p.D592D Score=551;Name=lod=231 NA 11p15.1 NA NA NA NA rs11605097 0.33 0.33 0.279 0.308307 0.4195 0.3472 0.451 0.0794 0.362 0.43 0.33 0.47 0.1 0.4153 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237856 NA NA 0.460401 0.138017 NA 0.203 NA 5.3714656 1115 16 30018500 30018500 C T exonic DOC2A NA synonymous SNV DOC2A:NM_003586:exon6:c.G648A:p.Q216Q exonic ENSG00000149927 NA synonymous SNV ENSG00000149927:ENST00000350119:exon6:c.G648A:p.Q216Q,ENSG00000149927:ENST00000564979:exon6:c.G648A:p.Q216Q,ENSG00000149927:ENST00000565273:exon6:c.G648A:p.Q216Q,ENSG00000149927:ENST00000566310:exon6:c.G294A:p.Q98Q,ENSG00000149927:ENST00000564944:exon7:c.G648A:p.Q216Q Score=597;Name=lod=355 NA 16p11.2 NA NA NA NA rs3935873 0.34 0.34 0.311 0.349241 0.4414 0.378 0.3141 0.1573 0.5092 0.44 0.36 0.34 0.15 0.4095 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.976389 1.976389 NA 0.444535 0.176149 NA 0.362 NA 5.3712316 1115 8 133759318 133759318 A G exonic TMEM71 NA synonymous SNV TMEM71:NM_001145153:exon5:c.T357C:p.S119S exonic ENSG00000165071 NA synonymous SNV ENSG00000165071:ENST00000519016:exon4:c.T66C:p.S22S,ENSG00000165071:ENST00000522334:exon4:c.T66C:p.S22S,ENSG00000165071:ENST00000377901:exon5:c.T357C:p.S119S,ENSG00000165071:ENST00000523829:exon5:c.T357C:p.S119S NA NA 8q24.22 NA NA NA NA rs74775484 0.05 0.05 0.047 0.0419329 0.0974 NA 0.0937 0.0076 0.0378 0.09 0.0017 0.11 0.01 0.0786 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550915 NA NA 0.119651 0.018611 ID=COSM1551796;OCCURENCE=1(lung) 0.094 NA 5.3710156 1115 22 23104867 23104867 G A intergenic GGTLC2,MIR650 dist=114499;dist=60403 NA NA ncRNA_exonic ENSG00000253590 NA NA NA NA NA 22q11.22 NA Name=ZNF263,GATA-2 Name=4 NA rs12158233 0.69 0.69 0.698 0.688898 0.6292 0.8631 0.6744 0.6135 0.683 0.62 0.87 0.64 0.63 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126253 NA NA NA NA NA 0.551 NA 5.3708 1115 8 144991176 144991176 T C exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.A12771G:p.S4257S,PLEC:NM_201379:exon32:c.A12747G:p.S4249S,PLEC:NM_201380:exon32:c.A13224G:p.S4408S,PLEC:NM_201381:exon32:c.A12717G:p.S4239S,PLEC:NM_201382:exon32:c.A12813G:p.S4271S,PLEC:NM_201383:exon32:c.A12825G:p.S4275S,PLEC:NM_201384:exon32:c.A12813G:p.S4271S,PLEC:NM_000445:exon33:c.A12894G:p.S4298S exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.A13224G:p.S4408S,ENSG00000178209:ENST00000345136:exon32:c.A12813G:p.S4271S,ENSG00000178209:ENST00000354589:exon32:c.A12813G:p.S4271S,ENSG00000178209:ENST00000354958:exon32:c.A12747G:p.S4249S,ENSG00000178209:ENST00000356346:exon32:c.A12771G:p.S4257S,ENSG00000178209:ENST00000357649:exon32:c.A12825G:p.S4275S,ENSG00000178209:ENST00000398774:exon32:c.A12717G:p.S4239S,ENSG00000178209:ENST00000527096:exon32:c.A12882G:p.S4294S,ENSG00000178209:ENST00000436759:exon33:c.A12894G:p.S4298S NA NA 8q24.3 NA NA NA NA rs6558405 0.45 0.45 0.479 0.478435 0.4423 0.1528 0.3746 0.9002 0.3548 0.43 0.17 0.4 0.87 0.419 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.202757 NA NA 0.435013 0.83906 NA 0.551 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078845.3;CLNDSDB=.;CLNDSDBID=. 5.3703536 1115 11 69957917 69957917 A G intronic ANO1 NA NA NA intronic ENSG00000131620 NA NA NA NA NA 11q13.3 NA Name=eGFP-JunD,ELF1_(SC-631),ERalpha_a,YY1,FOXA1_(C-20),TBP,HEY1 Name=97 NA rs9666157 0.19 0.19 0.179 0.183506 0.2356 0.006 0.317 0.2678 0.1043 0.23 0.01 0.33 0.26 0.1871 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184977 NA NA 0.207285 0.231994 NA 0.239 NA 5.370015 1115 19 43371292 43371292 A T exonic PSG1 NA synonymous SNV PSG1:NM_001184825:exon6:c.T1254A:p.V418V exonic ENSG00000231924 NA synonymous SNV ENSG00000231924:ENST00000403380:exon5:c.T975A:p.V325V,ENSG00000231924:ENST00000436291:exon6:c.T1254A:p.V418V NA NA 19q13.2 NA NA NA NA rs4030952 NA NA NA 0.287939 0.1083 0.4167 0.196 0.3124 0.3722 NA NA NA NA 0.1891 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708725 NA NA NA NA NA NA NA 5.3692666 1115 8 55104313 55104313 A G intergenic MRPL15,SOX17 dist=43239;dist=266182 NA NA ncRNA_exonic ENSG00000270980 NA NA NA Score=609;Name=lod=398 NA 8q11.23 NA NA Name=18 NA rs2013501 0.67 0.67 0.686 0.656949 0.6312 0.6081 0.5014 0.9107 0.501 0.64 0.58 0.54 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009102 NA NA NA NA NA 0.688 NA 5.3688 1115 16 2161796 2161796 G A exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon15:c.C3372T:p.A1124A,PKD1:NM_001009944:exon15:c.C3372T:p.A1124A exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon15:c.C3372T:p.A1124A,ENSG00000008710:ENST00000423118:exon15:c.C3372T:p.A1124A NA NA 16p13.3 NA NA NA NA rs75510884 0.11 0.11 0.079 0.114617 0.0944 NA 0.111 0.2935 0.0143 0.1 NA 0.12 0.27 0.1066 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40158 NA NA 0.096992 0.242459 NA 0.072 NA 5.3686746 1115 16 70602221 70602221 C T exonic SF3B3 NA synonymous SNV SF3B3:NM_012426:exon22:c.C2988T:p.I996I exonic ENSG00000189091 NA synonymous SNV ENSG00000189091:ENST00000302516:exon22:c.C2988T:p.I996I Score=593;Name=lod=344 NA 16q22.1 NA NA NA NA rs12909 0.46 0.46 0.457 0.506789 0.4155 0.5804 0.4193 0.4175 0.7076 0.4 0.58 0.44 0.42 0.4595 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03097 NA NA 0.423488 0.392857 ID=COSM148101;OCCURENCE=1(stomach) 0.558 NA 5.3681786 1115 16 2161793 2161793 G A exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon15:c.C3375T:p.S1125S,PKD1:NM_001009944:exon15:c.C3375T:p.S1125S exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon15:c.C3375T:p.S1125S,ENSG00000008710:ENST00000423118:exon15:c.C3375T:p.S1125S NA NA 16p13.3 NA NA NA NA rs74331768 0.11 0.11 0.075 0.113618 0.0944 NA 0.111 0.2897 0.0143 0.1 NA 0.12 0.26 0.1078 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627089 NA NA 0.096293 0.239031 NA 0.072 NA 5.3681736 1115 5 141059868 141059868 T C exonic ARAP3 NA synonymous SNV ARAP3:NM_022481:exon2:c.A186G:p.L62L exonic ENSG00000120318 NA synonymous SNV ENSG00000120318:ENST00000504448:exon1:c.A186G:p.L62L,ENSG00000120318:ENST00000239440:exon2:c.A186G:p.L62L Score=440;Name=lod=82 NA 5q31.3 NA NA NA NA rs11167756 0.47 0.47 0.428 0.465655 0.4274 0.4683 0.4942 0.4493 0.5041 0.44 0.48 0.51 0.49 0.4516 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598777 NA NA 0.420116 0.444167 NA 0.333 NA 5.3675506 1115 9 75303653 75303653 C T exonic TMC1 NA synonymous SNV TMC1:NM_138691:exon6:c.C45T:p.D15D exonic ENSG00000165091 NA synonymous SNV ENSG00000165091:ENST00000396237:exon2:c.C45T:p.D15D,ENSG00000165091:ENST00000340019:exon5:c.C45T:p.D15D,ENSG00000165091:ENST00000297784:exon6:c.C45T:p.D15D NA NA 9q21.13 NA NA NA NA rs2589615 0.51 0.51 0.533 0.510783 0.4085 0.4187 0.4496 0.77 0.4039 0.42 0.46 0.48 0.74 0.4609 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332618 NA NA 0.43 0.717431 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041144.1;CLNDSDB=.;CLNDSDBID=. 5.3672666 1115 1 109737063 109737063 C T exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267049:exon7:c.C918T:p.N306N,KIAA1324:NM_001267048:exon13:c.C1707T:p.N569N,KIAA1324:NM_020775:exon15:c.C1968T:p.N656N exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000529753:exon13:c.C1707T:p.N569N,ENSG00000116299:ENST00000457623:exon14:c.C1818T:p.N606N,ENSG00000116299:ENST00000369939:exon15:c.C1968T:p.N656N Score=504;Name=lod=149 NA 1p13.3 NA NA Name=22 NA rs2359246 0.73 0.73 0.696 0.713658 0.7634 0.9702 0.7968 0.3033 0.8937 0.78 0.97 0.79 0.32 0.7772 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257085 NA NA 0.758953 0.368361 NA 0.754 NA 5.3671136 1115 18 12348285 12348285 T C exonic AFG3L2 NA synonymous SNV AFG3L2:NM_006796:exon13:c.A1650G:p.E550E exonic ENSG00000141385 NA synonymous SNV ENSG00000141385:ENST00000269143:exon13:c.A1650G:p.E550E Score=595;Name=lod=349 NA 18p11.21 NA NA NA NA rs11553521 0.71 0.71 0.726 0.709864 0.7674 0.6151 0.5937 0.7421 0.7873 0.77 0.64 0.62 0.79 0.7492 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478333 NA NA 0.78314 0.771675 ID=COSM148398;OCCURENCE=1(stomach) 0.667 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116249.2|RCV000123557.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.3669266 1115 5 169129422 169129422 A G exonic DOCK2 NA synonymous SNV DOCK2:NM_004946:exon14:c.A1374G:p.K458K exonic ENSG00000134516 NA synonymous SNV ENSG00000134516:ENST00000256935:exon14:c.A1374G:p.K458K,ENSG00000134516:ENST00000524185:exon14:c.A1374G:p.K458K Score=369;Name=lod=42 NA 5q35.1 NA NA NA NA rs2306559 0.45 0.45 0.42 0.385383 0.4473 0.6815 0.3285 0.1982 0.3098 0.43 0.71 0.38 0.25 0.4067 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978347 NA NA 0.446628 0.237631 NA 0.384 NA 5.3660386 1115 11 18751041 18751041 C T exonic PTPN5 NA synonymous SNV PTPN5:NM_001039970:exon14:c.G1467A:p.V489V,PTPN5:NM_006906:exon14:c.G1563A:p.V521V,PTPN5:NM_032781:exon14:c.G1563A:p.V521V exonic ENSG00000110786 NA synonymous SNV ENSG00000110786:ENST00000396166:exon2:c.G381A:p.V127V,ENSG00000110786:ENST00000477854:exon10:c.G975A:p.V325V,ENSG00000110786:ENST00000396168:exon13:c.G1491A:p.V497V,ENSG00000110786:ENST00000358540:exon14:c.G1563A:p.V521V,ENSG00000110786:ENST00000396167:exon14:c.G1467A:p.V489V,ENSG00000110786:ENST00000396170:exon14:c.G1467A:p.V489V,ENSG00000110786:ENST00000396171:exon14:c.G1563A:p.V521V Score=559;Name=lod=249 NA 11p15.1 NA NA NA NA rs1550870 0.34 0.34 0.316 0.317492 0.4423 0.2619 0.3055 0.3185 0.2536 0.44 0.28 0.28 0.29 0.3992 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244156 1.244156 NA 0.459469 0.3206 NA 0.326 NA 5.3656976 1115 3 169540397 169540397 T C exonic LRRIQ4 NA synonymous SNV LRRIQ4:NM_001080460:exon1:c.T688C:p.L230L exonic ENSG00000188306 NA synonymous SNV ENSG00000188306:ENST00000340806:exon1:c.T688C:p.L230L Score=259;Name=lod=15 NA 3q26.2 NA NA NA NA rs1920119 0.57 0.57 0.549 0.595647 0.4036 0.7579 0.6066 0.6679 0.5204 0.41 0.76 0.53 0.64 0.5005 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537601 NA NA 0.397059 0.607052 NA 0.514 NA 5.3655076 1115 2 112141781 112141781 T G ncRNA_intronic LOC541471 NA NA NA ncRNA_exonic ENSG00000223973 NA NA NA Score=843;Name=lod=3545 NA 2q13 NA NA NA NA rs62163546 NA NA 0.185 0.259185 0.3012 0.0585 0.1931 0.4486 0.2137 NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502507 NA NA NA NA NA 0.348 NA 5.3654666 1115 18 67992684 67992684 C T exonic SOCS6 NA synonymous SNV SOCS6:NM_004232:exon2:c.C780T:p.R260R exonic ENSG00000170677 NA synonymous SNV ENSG00000170677:ENST00000397942:exon2:c.C780T:p.R260R,ENSG00000170677:ENST00000582322:exon2:c.C780T:p.R260R NA NA 18q22.2 NA NA NA NA rs1047657 0.09 0.09 0.088 0.0766773 0.1044 0.0238 0.1455 0.0825 0.046 0.09 0.03 0.17 0.08 0.0917 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.022833 NA NA 0.105233 0.104857 NA 0.116 NA 5.3653336 1115 1 15783222 15783222 C T upstream CELA2A NA NA NA upstream ENSG00000142615 NA NA NA NA NA 1p36.21 NA Name=GATA-1,TAL1_(SC-12984),NRSF,Egr-1,GATA2_(CG2-96) Name=4 NA rs2303195 0.08 0.08 0.079 0.0754792 0.0934 0.0119 0.0764 0.1316 0.046 0.1 0.01 0.1 0.12 0.095 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430271 NA NA 0.113256 0.142079 NA 0.072 NA 5.3650106 1116 11 193722 193722 A G exonic LOC653486,SCGB1C1 NA synonymous SNV LOC653486:NM_001097610:exon2:c.A66G:p.T22T,SCGB1C1:NM_145651:exon2:c.A66G:p.T22T exonic ENSG00000188076 NA synonymous SNV ENSG00000188076:ENST00000342878:exon2:c.A66G:p.T22T NA NA 11p15.5 NA NA NA NA rs2294082 0.24 0.24 0.181 NA NA NA NA NA NA 0.15 0.39 0.23 0.22 0.2116 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.972866 NA NA 0.090069 0.128388 NA 0.21 NA 5.3649976 1116 8 125551567 125551567 C T intronic NDUFB9 NA NA NA UTR5 ENSG00000147687 ENST00000523152:c.-280G>A NA NA NA NA 8q24.13 NA Name=Pol2(b),YY1,Ini1,HA-E2F1,Pol2-4H8,NFKB,HEY1,TBP,TAF1,POU2F2,Pol2,YY1_(C-20),Oct-2,GTF2F1_(RAP-74) Name=148 NA rs7010411 0.28 0.28 0.262 0.309704 0.2614 0.3532 0.1542 0.2738 0.4734 0.28 0.33 0.18 0.3 0.2933 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.739016 2.739016 NA 0.247148 0.265 NA 0.21 NA 5.3648187 1116 5 79596175 79596175 T C ncRNA_exonic LOC644936 NA NA NA ncRNA_exonic ENSG00000184188 NA NA NA Score=859;Name=lod=4113 NA 5q14.1 NA NA NA NA rs11738835 0.1 0.1 0.1 0.0978435 0.16 NA 0.1153 0.1029 0.1155 0.16 NA 0.14 0.09 0.1425 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.078718 NA NA NA NA NA 0.08 NA 5.3641666 1116 3 42225951 42225951 G T intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA Name=GATA-2,c-Jun Name=40 NA rs4682953 0.75 0.75 0.736 0.714657 0.6362 0.9484 0.7738 0.6316 0.6247 0.64 0.97 0.74 0.7 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086865 NA NA NA NA NA 0.703 NA 5.3638 1116 11 64851305 64851305 C T intronic CDCA5 NA NA NA intronic ENSG00000146670 NA NA NA NA NA 11q13.1 NA Name=AP-2gamma,YY1,HA-E2F1,CTCF,Pol2,YY1_(C-20) Name=3 NA rs947799 0.45 0.45 0.408 0.414537 0.6362 0.2113 0.647 0.295 0.3926 0.64 0.21 0.65 0.28 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.202451 NA NA NA NA NA 0.435 NA 5.3638 1116 10 44126599 44126599 G C ncRNA_intronic ZNF32-AS3 NA NA NA ncRNA_exonic ENSG00000238263 NA NA NA Score=727;Name=lod=1205 NA 10q11.21 NA NA NA NA rs10793459 0.44 0.44 0.4 0.427117 0.3032 0.6538 0.389 0.3828 0.408 0.3 0.7 0.37 0.39 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528568 NA NA NA NA NA 0.471 NA 5.3634666 1116 10 46968665 46968665 G A exonic SYT15 NA synonymous SNV SYT15:NM_031912:exon3:c.C271T:p.L91L,SYT15:NM_181519:exon3:c.C271T:p.L91L exonic ENSG00000204176 NA synonymous SNV ENSG00000204176:ENST00000374323:exon2:c.C430T:p.L144L,ENSG00000204176:ENST00000374321:exon3:c.C271T:p.L91L,ENSG00000204176:ENST00000374325:exon3:c.C271T:p.L91L,ENSG00000204176:ENST00000503753:exon3:c.C271T:p.L91L NA NA 10q11.22 NA NA NA NA rs200814731 0.1 0.1 0.065 0.0936502 0.1282 0.0496 0.0764 0.1051 0.1002 0.12 0.04 0.1 0.12 0.1029 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119615 NA NA 0.072135 0.065115 ID=COSM1317459,COSM1317460,COSM1317461;OCCURENCE=1(ovary),3(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.138 NA 5.3634316 1116 6 116892839 116892839 C T intronic RWDD1 NA NA NA intronic ENSG00000111832 NA NA NA NA NA 6q22.1 NA Name=CTCF,STAT1,HEY1,Mxi1_(bHLH),Pol2,HA-E2F1,Pol2-4H8,ZNF263,TAF1,GATA-1,HMGN3 Name=3 NA rs2295598 0.23 0.23 0.221 0.223442 0.2147 0.3522 0.2089 0.1172 0.2536 0.22 0.36 0.2 0.11 0.2272 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.205099 NA NA 0.194775 0.125229 NA 0.225 NA 5.363325 1116 5 79596021 79596021 T C ncRNA_exonic LOC644936 NA NA NA ncRNA_exonic ENSG00000184188 NA NA NA Score=859;Name=lod=4113 NA 5q14.1 NA NA NA NA rs11738780 0.1 0.1 0.087 0.0978435 0.16 NA 0.1153 0.1029 0.1155 0.16 NA 0.14 0.09 0.1435 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365434 NA 0 NA NA NA 0.08 NA 5.3631666 1116 17 20217375 20217375 G A exonic SPECC1 NA synonymous SNV SPECC1:NM_001033555:exon13:c.G2961A:p.T987T,SPECC1:NM_001033553:exon15:c.G3204A:p.T1068T,SPECC1:NM_001243439:exon15:c.G3204A:p.T1068T exonic ENSG00000128487 NA synonymous SNV ENSG00000128487:ENST00000536879:exon12:c.G1224A:p.T408T,ENSG00000128487:ENST00000395530:exon13:c.G2961A:p.T987T,ENSG00000128487:ENST00000261503:exon15:c.G3204A:p.T1068T,ENSG00000128487:ENST00000395527:exon15:c.G3204A:p.T1068T NA NA 17p11.2 NA NA NA NA rs75296798 0.05 0.05 0.035 0.0371406 0.1024 NA 0.0836 0.0045 0.0194 0.11 NA 0.08 0.01 0.0807 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148289 NA NA 0.120581 0.022923 NA 0.08 NA 5.3629856 1116 12 124179417 124179417 T C exonic TCTN2 NA synonymous SNV TCTN2:NM_001143850:exon10:c.T1125C:p.P375P,TCTN2:NM_024809:exon10:c.T1128C:p.P376P exonic ENSG00000168778 NA synonymous SNV ENSG00000168778:ENST00000303372:exon10:c.T1128C:p.P376P,ENSG00000168778:ENST00000426174:exon10:c.T1125C:p.P375P NA NA 12q24.31 NA NA NA NA rs7966867 0.44 0.44 0.443 0.482228 0.4185 0.1508 0.366 0.8744 0.4417 0.42 0.12 0.39 0.89 0.4387 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095134 NA NA 0.446628 0.817522 NA 0.413 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114225.2;CLNDSDB=.;CLNDSDBID=. 5.3628386 1116 7 149019244 149019244 G T intergenic LOC155060,ZNF777 dist=24841;dist=109210 NA NA upstream ENSG00000231397 NA NA NA NA NA 7q36.1 NA Name=TBP Name=45 NA rs2373521 0.09 0.09 0.061 0.0770767 0.1372 NA 0.1167 0.1036 0.0307 0.13 NA 0.13 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434021 NA NA NA NA NA 0.145 NA 5.3628 1116 7 149019247 149019247 G A intergenic LOC155060,ZNF777 dist=24844;dist=109207 NA NA upstream ENSG00000231397 NA NA NA NA NA 7q36.1 NA Name=TBP Name=45 NA rs2005318 0.09 0.09 0.059 0.0770767 0.1372 NA 0.1167 0.1036 0.0307 0.13 NA 0.13 0.09 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409166 NA NA NA NA NA 0.145 NA 5.3628 1116 7 149019266 149019266 G A intergenic LOC155060,ZNF777 dist=24863;dist=109188 NA NA upstream ENSG00000231397 NA NA NA NA NA 7q36.1 NA Name=TBP Name=45 NA rs1106814 0.09 0.09 0.054 0.0770767 0.1372 NA 0.1167 0.1036 0.0307 0.14 NA 0.14 0.09 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456594 NA NA NA NA NA 0.145 NA 5.3628 1116 22 37771158 37771158 G A exonic ELFN2 NA synonymous SNV ELFN2:NM_052906:exon3:c.C417T:p.I139I exonic ENSG00000166897 NA synonymous SNV ENSG00000166897:ENST00000349653:exon1:c.C417T:p.I139I,ENSG00000166897:ENST00000402918:exon3:c.C417T:p.I139I Score=612;Name=lod=408 NA 22q13.1 NA NA NA NA rs2071857 0.45 0.45 0.42 0.417732 0.4274 0.3522 0.6556 0.4289 0.2914 0.43 0.37 0.6 0.44 0.4424 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244675 NA NA 0.434419 0.469814 NA 0.478 NA 5.3624476 1116 3 9828676 9828676 G C intronic TADA3 NA NA NA intronic ENSG00000114026,ENSG00000171148 NA NA NA NA NA 3p25.3 NA Name=Ini1,CTCF_(SC-5916),Pol2,YY1_(C-20),CTCF,FOXA1_(SC-101058),CTCF_(C-20) Name=9 NA rs7621556 0.29 0.29 0.257 0.295727 0.1809 0.5298 0.2839 0.1838 0.3323 0.18 0.51 0.29 0.21 0.251 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102131 NA NA 0.205698 0.184067 NA 0.239 NA 5.362402 1116 3 98252027 98252027 G A downstream GPR15 NA NA NA intronic ENSG00000080819 NA NA NA NA NA 3q11.2 NA Name=Pol2-4H8 Name=6 NA rs1529047 0.54 0.54 0.501 0.52476 0.4712 0.7768 0.6138 0.2874 0.5777 0.49 0.81 0.57 0.29 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195426 NA NA NA NA NA 0.399 NA 5.3621333 1116 16 74877693 74877693 A G intergenic FA2H,WDR59 dist=68964;dist=29778 NA NA ncRNA_intronic ENSG00000261458 NA NA NA NA NA 16q23.1 NA Name=FOXA1_(C-20) Name=13 NA rs11149770 NA NA 0.513 0.639776 0.6382 0.8462 0.732 0.379 0.7157 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224155 NA NA NA NA NA NA NA 5.3618 1116 22 22707608 22707608 C A intergenic LOC96610,ZNF280B dist=30284;dist=131164 NA NA exonic ENSG00000211647 NA synonymous SNV ENSG00000211647:ENST00000390293:exon2:c.C196A:p.R66R NA NA 22q11.22 NA NA NA NA NA NA NA 0.013 NA NA NA NA NA NA NA NA NA NA 0.1384 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105025 NA NA NA NA NA 0.101 NA 5.3616 1116 22 41569609 41569609 C T intronic EP300 NA NA NA ncRNA_intronic ENSG00000232754 NA NA NA Score=251;Name=lod=14 NA 22q13.2 NA NA NA NA rs2076578 0.29 0.29 0.287 0.264177 0.327 0.4712 0.2118 0.0439 0.3211 0.31 0.5 0.23 0.05 0.3085 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.829827 4.829827 NA 0.336279 0.105586 NA 0.217 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079679.1;CLNDSDB=.;CLNDSDBID=. 5.3615543 1116 20 1629906 1629906 C T exonic SIRPG NA synonymous SNV SIRPG:NM_001039508:exon2:c.G222A:p.R74R,SIRPG:NM_018556:exon2:c.G222A:p.R74R,SIRPG:NM_080816:exon2:c.G222A:p.R74R exonic ENSG00000089012 NA synonymous SNV ENSG00000089012:ENST00000216927:exon2:c.G222A:p.R74R,ENSG00000089012:ENST00000303415:exon2:c.G222A:p.R74R,ENSG00000089012:ENST00000344103:exon2:c.G222A:p.R74R,ENSG00000089012:ENST00000381580:exon2:c.G123A:p.R41R,ENSG00000089012:ENST00000381583:exon2:c.G222A:p.R74R NA NA 20p13 NA Name=EBF1_(C-8) NA NA rs6079967 0.38 0.38 0.351 0.351637 0.4394 0.2708 0.5058 0.3064 0.2965 0.44 0.3 0.46 0.33 0.408 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370319 NA NA 0.458023 0.330685 ID=COSM149126;OCCURENCE=1(stomach) 0.471 NA 5.3612436 1116 12 6604415 6604415 T G intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA Name=CEBPB Name=19 NA rs11064231 0.11 0.11 0.088 0.107827 0.2097 0.0089 0.1354 0.025 0.1973 0.21 0.01 0.18 0.04 0.1936 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916118 NA NA 0.235698 0.056514 NA 0.087 NA 5.361002 1116 7 149019236 149019236 G C intergenic LOC155060,ZNF777 dist=24833;dist=109218 NA NA upstream ENSG00000231397 NA NA NA NA NA 7q36.1 NA Name=TBP Name=45 NA rs2373522 0.1 0.1 0.061 0.0776757 0.1392 NA 0.1167 0.1044 0.0307 0.15 NA 0.14 0.1 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482492 NA NA NA NA NA 0.145 NA 5.3608 1116 15 79298523 79298523 G A exonic RASGRF1 NA synonymous SNV RASGRF1:NM_002891:exon15:c.C2119T:p.L707L exonic ENSG00000058335 NA synonymous SNV ENSG00000058335:ENST00000419573:exon15:c.C2119T:p.L707L NA NA 15q25.1 NA NA NA NA rs894780 0.08 0.08 0.075 0.0662939 0.1163 0.0972 0.0605 0.0061 0.0685 0.11 0.1 0.07 0.01 0.0865 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66827 NA NA 0.103075 0.021858 NA 0.029 NA 5.3607916 1116 20 55111371 55111371 G A exonic FAM209B NA synonymous SNV FAM209B:NM_001013646:exon2:c.G393A:p.Q131Q exonic ENSG00000213714 NA synonymous SNV ENSG00000213714:ENST00000371325:exon2:c.G393A:p.Q131Q NA NA 20q13.31 Score=745;Name=V$NRSF_01 NA NA NA rs2296130 0.35 0.35 0.363 0.374002 0.4483 0.0466 0.3473 0.5461 0.4213 0.45 0.04 0.37 0.54 0.4004 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.689367 NA NA 0.457442 0.539265 NA 0.435 NA 5.3605246 1116 15 101110265 101110265 T A exonic LINS NA synonymous SNV LINS:NM_001040616:exon7:c.A1452T:p.T484T exonic ENSG00000140471 NA synonymous SNV ENSG00000140471:ENST00000314742:exon7:c.A1452T:p.T484T Score=355;Name=lod=37 NA 15q26.3 NA NA NA NA rs2411836 0.33 0.33 0.318 0.311502 0.4513 0.246 0.2493 0.2375 0.3793 0.46 0.25 0.29 0.25 0.386 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98015 NA NA 0.468946 0.281888 ID=COSM147994;OCCURENCE=1(stomach) 0.377 NA 5.3604206 1116 19 11230881 11230881 T C exonic LDLR NA synonymous SNV LDLR:NM_001195800:exon11:c.T1455C:p.V485V,LDLR:NM_001195799:exon12:c.T1836C:p.V612V,LDLR:NM_001195802:exon12:c.T1596C:p.V532V,LDLR:NM_001195803:exon12:c.T1578C:p.V526V,LDLR:NM_000527:exon13:c.T1959C:p.V653V,LDLR:NM_001195798:exon13:c.T1959C:p.V653V exonic ENSG00000130164 NA synonymous SNV ENSG00000130164:ENST00000455727:exon11:c.T1455C:p.V485V,ENSG00000130164:ENST00000535915:exon12:c.T1836C:p.V612V,ENSG00000130164:ENST00000545707:exon12:c.T1578C:p.V526V,ENSG00000130164:ENST00000557933:exon13:c.T1959C:p.V653V,ENSG00000130164:ENST00000558013:exon13:c.T1959C:p.V653V,ENSG00000130164:ENST00000558518:exon13:c.T1959C:p.V653V Score=304;Name=lod=23 NA 19p13.2 NA NA NA NA rs5925 0.33 0.33 0.284 0.335863 0.4463 0.2163 0.5418 0.1498 0.4509 0.45 0.19 0.52 0.17 0.4092 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542713 NA NA 0.452674 0.197458 NA 0.283 NA 5.3584926 1116 5 80409729 80409729 T C exonic RASGRF2 NA synonymous SNV RASGRF2:NM_006909:exon15:c.T2460C:p.S820S exonic ENSG00000113319 NA synonymous SNV ENSG00000113319:ENST00000265080:exon15:c.T2460C:p.S820S,ENSG00000113319:ENST00000503795:exon15:c.T2460C:p.S820S Score=502;Name=lod=146 NA 5q14.1 NA NA NA NA rs10942942 0.41 0.41 0.453 0.436302 0.4394 0.254 0.3271 0.612 0.4611 0.41 0.27 0.35 0.6 0.416 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802278 NA NA 0.453605 0.587381 ID=COSM1132101;OCCURENCE=1(prostate) 0.565 NA 5.3576616 1116 18 6999628 6999628 T C exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon32:c.A4479G:p.S1493S exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon32:c.A4479G:p.S1493S NA NA 18p11.31 NA Name=CTCF NA NA rs625106 0.45 0.45 0.471 0.466254 0.4215 0.2708 0.3112 0.7806 0.3988 0.43 0.26 0.35 0.76 0.4507 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289069 NA NA 0.437326 0.687699 NA 0.616 NA 5.3571406 1116 15 101113950 101113950 A G exonic LINS NA synonymous SNV LINS:NM_001040616:exon5:c.T1128C:p.S376S exonic ENSG00000140471 NA synonymous SNV ENSG00000140471:ENST00000314742:exon5:c.T1128C:p.S376S,ENSG00000140471:ENST00000560133:exon5:c.T771C:p.S257S,ENSG00000140471:ENST00000561308:exon5:c.T1128C:p.S376S NA NA 15q26.3 Score=854;Name=V$ARNT_02 NA NA NA rs12592868 0.34 0.34 0.347 0.327476 0.4513 0.246 0.2507 0.2973 0.3793 0.46 0.25 0.29 0.31 0.3885 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323573 NA NA 0.469767 0.321153 ID=COSM147996;OCCURENCE=1(stomach) 0.391 NA 5.3570996 1116 16 74877694 74877694 C T intergenic FA2H,WDR59 dist=68965;dist=29777 NA NA ncRNA_intronic ENSG00000261458 NA NA NA NA NA 16q23.1 NA Name=FOXA1_(C-20) Name=13 NA rs7187950 0.69 0.69 0.677 0.762181 0.6431 0.9921 0.7752 0.6589 0.7781 0.57 0.94 0.69 0.58 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244275 NA NA NA NA NA 0.116 NA 5.3569 1116 2 25194741 25194741 G A exonic DNAJC27 NA synonymous SNV DNAJC27:NM_001198559:exon1:c.C33T:p.P11P,DNAJC27:NM_016544:exon1:c.C33T:p.P11P exonic ENSG00000115137 NA synonymous SNV ENSG00000115137:ENST00000264711:exon1:c.C33T:p.P11P,ENSG00000115137:ENST00000380809:exon1:c.C33T:p.P11P NA NA 2p23.3 NA Name=YY1_(C-20),c-Fos,Pol2,RFX5_(N-494),SP1,YY1,TCF4,NF-YA,IRF1,NF-YB Name=148 NA rs7593864 0.76 0.76 0.741 0.712859 0.7873 0.744 0.8588 0.6324 0.6094 0.78 0.76 0.87 0.63 0.7508 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896406 NA NA 0.772326 0.670676 ID=COSM1162609;OCCURENCE=1(pancreas) 0.79 NA 5.3562406 1116 19 53741188 53741188 C T exonic ZNF677 NA synonymous SNV ZNF677:NM_182609:exon5:c.G792A:p.K264K exonic ENSG00000197928 NA synonymous SNV ENSG00000197928:ENST00000333952:exon5:c.G792A:p.K264K,ENSG00000197928:ENST00000598513:exon5:c.G792A:p.K264K Score=340;Name=lod=32 NA 19q13.42 NA NA NA NA rs12984473 0.47 0.47 0.462 0.464856 0.4324 0.752 0.4294 0.2148 0.5654 0.43 0.75 0.44 0.25 0.4589 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66403 NA NA 0.419302 0.243305 NA 0.399 NA 5.3560646 1116 1 1178245 1178245 C T exonic FAM132A NA synonymous SNV FAM132A:NM_001014980:exon7:c.G780A:p.T260T exonic ENSG00000184163 NA synonymous SNV ENSG00000184163:ENST00000330388:exon7:c.G780A:p.T260T NA NA 1p36.33 NA NA NA NA rs11260566 0.17 0.17 0.147 0.178714 0.0944 0.1637 0.0865 0.3283 0.1442 0.1 0.2 0.08 0.33 0.1248 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.421415 NA NA 0.091737 0.227502 NA 0.109 NA 5.3557296 1117 5 153939575 153939575 T C intergenic HAND1,MIR3141 dist=81751;dist=35997 NA NA ncRNA_exonic ENSG00000253146 NA NA NA Score=725;Name=lod=1179 NA 5q33.2 NA NA Name=6 NA rs4958746 0.5 0.5 0.496 0.509585 0.6451 0.374 0.4683 0.4637 0.6012 0.65 0.36 0.48 0.46 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49751 NA NA NA NA ID=COSN167627;OCCURENCE=1(large_intestine) 0.486 NA 5.3549 1117 15 101598200 101598200 G A exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon29:c.G4533A:p.P1511P exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000388948:exon29:c.G4533A:p.P1511P,ENSG00000154237:ENST00000284395:exon30:c.G4524A:p.P1508P NA NA 15q26.3 Score=813;Name=V$HNF4_01 NA NA NA rs11857803 0.31 0.31 0.306 0.318291 0.4493 0.128 0.2839 0.3071 0.4192 0.46 0.12 0.34 0.27 0.4009 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046026 NA NA 0.462542 0.32059 NA 0.377 NA 5.3539246 1117 6 52622814 52622814 C T intronic GSTA2 NA NA NA intronic ENSG00000244067 NA NA NA NA NA 6p12.2 NA Name=STAT3 Name=67 NA rs2254050 0.78 0.78 0.777 0.780551 0.6461 0.8631 0.7666 0.9138 0.6636 0.64 0.86 0.76 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089108 NA NA NA NA NA 0.703 NA 5.3539 1117 10 94968665 94968665 A G intergenic CYP26A1,MYOF dist=131024;dist=97521 NA NA ncRNA_exonic ENSG00000237417 NA NA NA Score=646;Name=lod=561 NA 10q23.33 NA NA Name=41 NA rs11596790 0.42 0.42 0.434 0.421526 0.6461 0.0526 0.4438 0.5295 0.409 0.63 0.06 0.47 0.48 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009989 NA NA NA NA NA 0.391 NA 5.3539 1117 5 153856974 153856974 C G intronic HAND1 NA NA NA intronic ENSG00000113196 NA NA NA NA NA 5q33.2 NA Name=SUZ12 Name=70 NA rs1846966 0.31 0.31 0.257 0.305312 0.3191 0.3462 0.4741 0.152 0.3364 0.3 0.36 0.44 0.16 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259811 NA NA 0.327725 0.175799 NA 0.304 NA 5.353175 1117 1 38463504 38463504 C T exonic FHL3 NA synonymous SNV FHL3:NM_001243878:exon4:c.G216A:p.P72P,FHL3:NM_004468:exon5:c.G540A:p.P180P exonic ENSG00000183386 NA synonymous SNV ENSG00000183386:ENST00000373016:exon5:c.G540A:p.P180P Score=576;Name=lod=292 NA 1p34.3 NA NA NA NA rs7366048 0.55 0.55 0.538 0.575679 0.4205 0.6756 0.5202 0.6861 0.5225 0.41 0.64 0.51 0.68 0.4748 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485356 NA NA 0.418372 0.651838 NA 0.471 NA 5.3529946 1117 20 25038372 25038372 G A intronic ACSS1 NA NA NA intronic ENSG00000154930 NA NA NA NA NA 20p11.21 NA Name=HA-E2F1,ZNF263,Pol2 Name=110 NA rs62217194 0.17 0.17 0.165 0.20627 0.2018 0.0288 0.3084 0.202 0.3272 0.21 0.02 0.29 0.21 0.2304 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657164 NA NA 0.216744 0.185656 NA 0.036 NA 5.351056 1117 6 160174456 160174456 T G intronic WTAP NA NA NA intronic ENSG00000112096,ENSG00000146457 NA NA NA Score=760;Name=lod=1638 NA 6q25.3 NA Name=CEBPB Name=8 NA rs1440 0.38 0.38 0.351 0.374201 0.5477 0.1637 0.6167 0.1899 0.4898 0.56 0.15 0.6 0.2 0.5236 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.325101 3.325101 NA 0.578372 0.237177 NA 0.304 NA 5.350328 1117 14 75365062 75365062 A G intronic DLST NA NA NA intronic ENSG00000119689 NA NA NA Score=617;Name=lod=430 NA 14q24.3 NA Name=SP1,FOXA2_(SC-6554) Name=2 NA rs2080087 0.62 0.62 0.626 0.666534 0.5308 0.4216 0.5749 0.9781 0.7025 0.54 0.47 0.59 0.97 0.5886 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.802638 1.802638 NA 0.530698 0.898094 NA 0.543 NA 5.349902 1117 16 57950178 57950178 G C intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA Name=CEBPB Name=4 NA rs440565 0.72 0.72 0.727 0.763578 0.6501 0.7381 0.6326 0.9017 0.8129 0.63 0.74 0.64 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120053 NA NA NA NA NA 0.717 NA 5.3499 1117 17 33454415 33454415 C A exonic FNDC8 NA synonymous SNV FNDC8:NM_017559:exon2:c.C564A:p.T188T exonic ENSG00000073598 NA synonymous SNV ENSG00000073598:ENST00000158009:exon2:c.C564A:p.T188T Score=405;Name=lod=59 NA 17q12 NA NA NA NA rs2306508 0.45 0.45 0.401 0.444489 0.4354 0.7123 0.5447 0.1044 0.5665 0.44 0.71 0.52 0.12 0.4577 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917012 NA NA 0.42407 0.159328 NA 0.326 NA 5.3494966 1117 12 101018161 101018161 C T exonic GAS2L3 NA synonymous SNV GAS2L3:NM_174942:exon10:c.C1578T:p.S526S exonic ENSG00000139354 NA synonymous SNV ENSG00000139354:ENST00000552854:exon1:c.C669T:p.S223S,ENSG00000139354:ENST00000266754:exon9:c.C1578T:p.S526S,ENSG00000139354:ENST00000539410:exon9:c.C1578T:p.S526S,ENSG00000139354:ENST00000537247:exon10:c.C1266T:p.S422S,ENSG00000139354:ENST00000547754:exon10:c.C1578T:p.S526S NA NA 12q23.1 NA NA NA NA rs1045603 0.11 0.11 0.089 0.100639 0.1123 0.0962 0.1427 0.093 0.0736 0.12 0.08 0.16 0.09 0.103 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083618 NA NA 0.102442 0.079437 NA 0.08 NA 5.3489246 1117 20 50314200 50314200 A G intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA Name=c-Myc Name=6 NA rs1205690 0.6 0.6 0.596 0.574281 0.6511 0.6349 0.6427 0.4955 0.4908 0.63 0.64 0.64 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116575 NA NA NA NA NA 0.464 NA 5.3489 1117 17 76060954 76060954 A C exonic TNRC6C NA synonymous SNV TNRC6C:NM_001142640:exon5:c.A2538C:p.A846A,TNRC6C:NM_018996:exon5:c.A2547C:p.A849A exonic ENSG00000078687 NA synonymous SNV ENSG00000078687:ENST00000541771:exon2:c.A2547C:p.A849A,ENSG00000078687:ENST00000544502:exon2:c.A2538C:p.A846A,ENSG00000078687:ENST00000585438:exon2:c.A132C:p.A44A,ENSG00000078687:ENST00000301624:exon4:c.A2547C:p.A849A,ENSG00000078687:ENST00000335749:exon4:c.A2538C:p.A846A,ENSG00000078687:ENST00000588061:exon6:c.A2547C:p.A849A,ENSG00000078687:ENST00000588847:exon6:c.A2538C:p.A846A NA NA 17q25.3 NA NA NA NA rs61730171 0.11 0.11 0.117 0.142173 0.0855 0.1756 0.0937 0.146 0.1953 0.08 0.14 0.09 0.15 0.1302 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783145 NA NA 0.10287 0.118657 NA 0.13 NA 5.3480966 1117 17 21204266 21204266 T C exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon5:c.T273C:p.C91C,MAP2K3:NM_145109:exon5:c.T360C:p.C120C exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000342679:exon5:c.T360C:p.C120C,ENSG00000034152:ENST00000361818:exon5:c.T273C:p.C91C,ENSG00000034152:ENST00000496046:exon5:c.T360C:p.C120C,ENSG00000034152:ENST00000526076:exon5:c.T273C:p.C91C,ENSG00000034152:ENST00000316920:exon6:c.T273C:p.C91C Score=469;Name=lod=107 NA 17p11.2 NA NA NA NA rs2230435 0.54 0.54 0.552 0.306909 0.2664 0.2183 0.2939 0.3797 0.3507 0.53 0.52 0.55 0.57 0.5397 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511938 1.511938 NA 0.51314 0.545847 NA 0.478 NA 5.3474266 1117 15 54847677 54847677 C T exonic UNC13C NA synonymous SNV UNC13C:NM_001080534:exon27:c.C5925T:p.C1975C exonic ENSG00000137766 NA synonymous SNV ENSG00000137766:ENST00000537900:exon27:c.C5919T:p.C1973C,ENSG00000137766:ENST00000260323:exon28:c.C5925T:p.C1975C,ENSG00000137766:ENST00000545554:exon28:c.C5925T:p.C1975C Score=397;Name=lod=55 NA 15q21.3 NA NA NA NA rs11639005 0.4 0.4 0.368 0.409345 0.4423 0.5427 0.464 0.1233 0.5859 0.44 0.55 0.41 0.12 0.4458 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811941 NA NA 0.431339 0.174628 NA 0.37 NA 5.3472276 1117 11 73106294 73106294 A C exonic RELT NA synonymous SNV RELT:NM_032871:exon10:c.A1209C:p.T403T,RELT:NM_152222:exon10:c.A1209C:p.T403T exonic ENSG00000054967 NA synonymous SNV ENSG00000054967:ENST00000064780:exon10:c.A1209C:p.T403T,ENSG00000054967:ENST00000393580:exon10:c.A1209C:p.T403T NA NA 11q13.4 NA NA NA NA rs17851510 0.12 0.12 0.116 0.130591 0.1083 0.0129 0.0778 0.3048 0.0767 0.11 0.02 0.07 0.3 0.1109 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.841291 NA NA 0.100981 0.235401 NA 0.21 NA 5.3464856 1118 7 131817850 131817850 T C exonic PLXNA4 NA synonymous SNV PLXNA4:NM_020911:exon31:c.A5547G:p.A1849A exonic ENSG00000221866 NA synonymous SNV ENSG00000221866:ENST00000321063:exon31:c.A5547G:p.A1849A,ENSG00000221866:ENST00000359827:exon31:c.A5547G:p.A1849A NA NA 7q32.3 NA NA NA NA rs75848889 0.11 0.11 0.084 0.130791 0.0984 0.0962 0.2853 0.0303 0.226 0.09 0.11 0.25 0.02 0.1234 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704499 NA NA 0.099907 0.034459 NA 0.101 NA 5.3449596 1118 1 155899020 155899020 A T intronic KIAA0907 NA NA NA intronic ENSG00000132680 NA NA NA NA NA 1q22 NA Name=JunD,c-Fos Name=46 NA rs539602 0.39 0.39 0.346 0.398962 0.6551 0.1786 0.5994 0.1369 0.5746 0.65 0.17 0.56 0.12 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117368 NA NA NA NA NA 0.355 NA 5.3449 1118 5 169568406 169568406 T G intergenic FOXI1,C5orf58 dist=31677;dist=91544 NA NA ncRNA_exonic ENSG00000253219 NA NA NA Score=638;Name=lod=520 NA 5q35.1 NA NA Name=6 NA rs1806304 0.53 0.53 0.478 0.51897 0.6551 0.4464 0.7104 0.2837 0.636 0.64 0.47 0.71 0.32 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10989 NA NA NA NA NA 0.486 NA 5.3449 1118 2 95552783 95552783 C T ncRNA_exonic LOC442028 NA NA NA ncRNA_exonic ENSG00000259848 NA NA NA Score=611;Name=lod=404 NA 2q11.1 NA NA NA NA rs12717784 0.48 0.48 0.45 0.492612 0.3221 0.499 0.5548 0.7118 0.3211 0.33 0.5 0.49 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.629763 NA NA NA NA ID=COSN166191;OCCURENCE=1(NS) 0.355 NA 5.3445666 1118 2 132294068 132294068 G C ncRNA_intronic RNU6-81P NA NA NA ncRNA_intronic ENSG00000224679 NA NA NA NA NA 2q21.1 NA NA Name=3 NA rs10166775 0.5 0.5 0.485 0.514976 0.3221 0.6825 0.5346 0.6422 0.3548 0.3 0.65 0.49 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640499 NA NA NA NA NA 0.464 NA 5.3445666 1118 5 79595942 79595942 G A ncRNA_exonic LOC644936 NA NA NA ncRNA_exonic ENSG00000184188 NA NA NA Score=859;Name=lod=4113 NA 5q14.1 NA NA NA NA rs11741016 0.15 0.15 0.171 0.147963 0.164 NA 0.1326 0.2806 0.1155 0.16 NA 0.16 0.29 0.1586 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123924 NA 0 NA NA NA 0.159 NA 5.3440666 1118 1 1153113 1153113 G A exonic SDF4 NA synonymous SNV SDF4:NM_016547:exon7:c.C984T:p.L328L exonic ENSG00000078808 NA synonymous SNV ENSG00000078808:ENST00000263741:exon7:c.C984T:p.L328L NA NA 1p36.33 NA NA NA NA rs12036216 0.14 0.14 0.134 0.130591 0.1014 0.252 0.0879 0.1051 0.1002 0.11 0.27 0.06 0.09 0.1143 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112461 NA NA 0.106977 0.103315 NA 0.109 NA 5.3439896 1118 9 101552955 101552955 T C intronic ANKS6 NA NA NA intronic ENSG00000165138 NA NA NA NA NA 9q22.33 NA Name=GATA-2 Name=4 NA rs7027771 0.51 0.51 0.521 0.503195 0.6561 0.381 0.5086 0.4667 0.5174 0.64 0.35 0.52 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125593 NA NA NA NA NA 0.536 NA 5.3439 1118 2 220404648 220404648 C T exonic CHPF NA synonymous SNV CHPF:NM_001195731:exon4:c.G1299A:p.L433L,CHPF:NM_024536:exon4:c.G1785A:p.L595L exonic ENSG00000123989 NA synonymous SNV ENSG00000123989:ENST00000243776:exon4:c.G1785A:p.L595L,ENSG00000123989:ENST00000535926:exon4:c.G1299A:p.L433L Score=543;Name=lod=214 NA 2q35 NA NA NA NA rs1043833 0.36 0.36 0.31 0.30631 0.4523 0.2748 0.4841 0.1884 0.2219 0.46 0.28 0.44 0.23 0.4088 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080565 NA NA 0.461709 0.248752 NA 0.391 NA 5.3438576 1118 3 124487849 124487849 A G intronic ITGB5 NA NA NA intronic ENSG00000082781 NA NA NA NA NA 3q21.2 NA Name=SMC3_(ab9263),CTCF_(SC-5916),USF1_(SC-8983),USF2,USF-1,CTCF,Rad21,c-Myc,CTCF_(C-20) Name=40 NA rs2291082 0.32 0.32 0.302 0.36242 0.1859 0.3165 0.3991 0.5408 0.3241 0.18 0.34 0.34 0.52 0.2695 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001303 NA NA 0.20093 0.466863 NA 0.348 NA 5.34367 1118 2 73746923 73746923 C T exonic ALMS1 NA synonymous SNV ALMS1:NM_015120:exon11:c.C9558T:p.T3186T exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000423048:exon4:c.C3052T:p.P1018S NA NA 2p13.1 NA NA NA NA rs11884776 0.25 0.25 0.27 0.256789 0.2137 0.005 0.2349 0.5741 0.1472 0.22 0.01 0.22 0.58 0.2169 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.638995 1.638995 0 0.225767 0.47904 NA 0.312 NA 5.343633 1118 2 132256505 132256505 A C ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=566;Name=lod=267 NA 2q21.1 NA NA NA NA rs3817572 0.5 0.5 0.51 0.51278 0.3231 0.6845 0.5331 0.6256 0.364 0.3 0.66 0.48 0.64 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.854249 1.854249 NA NA NA NA 0.457 NA 5.3435666 1118 3 119378872 119378872 G A exonic POPDC2 NA synonymous SNV POPDC2:NM_022135:exon1:c.C399T:p.C133C exonic ENSG00000121577 NA synonymous SNV ENSG00000121577:ENST00000264231:exon1:c.C399T:p.C133C,ENSG00000121577:ENST00000341124:exon1:c.C399T:p.C133C,ENSG00000121577:ENST00000468801:exon1:c.C399T:p.C133C,ENSG00000121577:ENST00000493094:exon1:c.C399T:p.C133C,ENSG00000121577:ENST00000538678:exon1:c.C399T:p.C133C Score=441;Name=lod=83 NA 3q13.33 NA NA NA NA rs1880040 0.38 0.38 0.352 0.400958 0.4304 0.3323 0.4611 0.2912 0.547 0.43 0.34 0.47 0.26 0.4503 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48847 NA NA 0.442558 0.316387 NA 0.42 NA 5.3434086 1118 1 229730452 229730452 G A exonic TAF5L NA synonymous SNV TAF5L:NM_014409:exon5:c.C1362T:p.S454S exonic ENSG00000135801 NA synonymous SNV ENSG00000135801:ENST00000366676:exon4:c.C1362T:p.S454S,ENSG00000135801:ENST00000258281:exon5:c.C1362T:p.S454S Score=512;Name=lod=161 NA 1q42.13 NA NA NA NA rs2295625 0.32 0.32 0.305 0.303514 0.4612 0.3254 0.2666 0.0938 0.4284 0.46 0.33 0.33 0.08 0.3986 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881182 NA NA 0.463605 0.147299 NA 0.29 NA 5.3432616 1118 13 36744800 36744800 G A exonic CCDC169-SOHLH2,SOHLH2 NA synonymous SNV SOHLH2:NM_017826:exon10:c.C1125T:p.Y375Y,CCDC169-SOHLH2:NM_001198910:exon15:c.C1356T:p.Y452Y exonic ENSG00000120669,ENSG00000250709 NA synonymous SNV ENSG00000120669:ENST00000379881:exon10:c.C1125T:p.Y375Y,ENSG00000250709:ENST00000511166:exon15:c.C1356T:p.Y452Y,ENSG00000120669:ENST00000554962:exon15:c.C1356T:p.Y452Y NA NA 13q13.3 NA NA NA NA rs2296967 0.07 0.07 0.067 0.0746805 0.1014 0.0794 0.085 0.003 0.1319 0.1 0.08 0.11 0.002 0.1027 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.721377 NA NA 0.119535 0.025874 ID=COSM147666;OCCURENCE=1(stomach) 0.101 NA 5.3430316 1118 16 84494275 84494275 C T exonic ATP2C2 NA synonymous SNV ATP2C2:NM_014861:exon24:c.C2349T:p.P783P exonic ENSG00000064270 NA synonymous SNV ENSG00000064270:ENST00000262429:exon24:c.C2349T:p.P783P,ENSG00000064270:ENST00000416219:exon25:c.C2436T:p.P812P Score=414;Name=lod=64 NA 16q24.1 NA NA NA NA rs2241640 0.51 0.51 0.521 0.472244 0.4304 0.6349 0.5043 0.4077 0.4121 0.43 0.66 0.48 0.47 0.4511 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69386 NA NA 0.442553 0.402885 NA 0.457 NA 5.3426136 1118 5 137892170 137892170 G A exonic HSPA9 NA synonymous SNV HSPA9:NM_004134:exon16:c.C1933T:p.L645L exonic ENSG00000113013 NA synonymous SNV ENSG00000113013:ENST00000297185:exon16:c.C1933T:p.L645L Score=691;Name=lod=861 NA 5q31.2 NA NA NA NA rs10117 0.6 0.6 0.633 0.645767 0.4364 0.7907 0.3761 0.8207 0.6667 0.44 0.81 0.37 0.8 0.4886 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922394 NA NA 0.399651 0.737177 NA 0.616 NA 5.3420156 1118 1 183105705 183105705 G A exonic LAMC1 NA synonymous SNV LAMC1:NM_002293:exon25:c.G4299A:p.A1433A exonic ENSG00000135862 NA synonymous SNV ENSG00000135862:ENST00000258341:exon25:c.G4299A:p.A1433A Score=361;Name=lod=39 NA 1q25.3 NA NA NA NA rs20561 0.38 0.38 0.363 0.351837 0.4433 0.5109 0.3833 0.1702 0.317 0.45 0.46 0.4 0.19 0.4498 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820643 NA NA 0.431628 0.216523 NA 0.362 NA 5.3419386 1118 15 33359574 33359574 C A exonic FMN1 NA nonsynonymous SNV FMN1:NM_001103184:exon1:c.G512T:p.G171V exonic ENSG00000248905 NA nonsynonymous SNV ENSG00000248905:ENST00000334528:exon1:c.G512T:p.G171V,ENSG00000248905:ENST00000558197:exon1:c.G512T:p.G171V NA NA 15q13.3 NA NA NA NA rs11858145 0.71 0.71 0.692 0.723243 0.6481 0.8284 0.7795 0.587 0.8364 0.64 0.85 0.78 0.6 0.6954 0.85 1 T 0.0 B 0.0 B . . . . . . 1.31 T -0.964 T 0.000 T 0.047 -1.303 0.037 1.03 0.018 -0.756 5.755 -1.30315 NA 1 0.647933 0.600052 NA 0.616 NA 5.3419004 1118 12 124844581 124844581 G A intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA Name=ERalpha_a,Pol2,GATA3_(SC-268) Name=42 NA rs7975419 0.35 0.35 0.302 0.321885 0.6581 0.1052 0.5764 0.0537 0.3814 0.64 0.09 0.57 0.06 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732773 NA NA NA NA NA 0.188 NA 5.3419 1118 6 109768295 109768295 G A exonic MICAL1 NA synonymous SNV MICAL1:NM_001159291:exon16:c.C1950T:p.Y650Y,MICAL1:NM_022765:exon17:c.C2208T:p.Y736Y exonic ENSG00000135596 NA synonymous SNV ENSG00000135596:ENST00000358577:exon16:c.C1950T:p.Y650Y,ENSG00000135596:ENST00000358807:exon17:c.C2208T:p.Y736Y,ENSG00000135596:ENST00000368952:exon17:c.C2265T:p.Y755Y NA NA 6q21 Score=865;Name=V$TAL1ALPHAE47_01 NA NA NA rs910730 0.53 0.53 0.544 0.551518 0.4284 0.4504 0.4928 0.7557 0.5481 0.43 0.51 0.49 0.75 0.4767 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.687985 NA NA 0.420116 0.696777 NA 0.5 NA 5.3414506 1118 3 113377505 113377505 T G exonic KIAA2018 NA synonymous SNV KIAA2018:NM_001009899:exon7:c.A3024C:p.L1008L exonic ENSG00000176542 NA synonymous SNV ENSG00000176542:ENST00000478658:exon5:c.A3024C:p.L1008L,ENSG00000176542:ENST00000316407:exon7:c.A3024C:p.L1008L NA NA 3q13.2 NA NA NA NA rs16861271 0.14 0.14 0.127 0.172125 0.0875 0.3214 0.196 0.0061 0.3129 0.08 0.32 0.15 0.01 0.1388 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.226126 NA NA 0.098946 0.01922 NA 0.101 NA 5.3414206 1118 1 12919983 12919983 G A exonic PRAMEF2 NA synonymous SNV PRAMEF2:NM_023014:exon3:c.G723A:p.R241R exonic ENSG00000120952 NA synonymous SNV ENSG00000120952:ENST00000240189:exon3:c.G723A:p.R241R NA NA 1p36.21 NA NA NA NA rs77138000 0.12 0.12 0.125 0.133986 0.1103 0.0169 0.1052 0.2806 0.1012 0.11 0.01 0.11 0.26 0.1071 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456525 NA NA 0.107932 0.237857 NA 0.007 NA 5.3413346 1118 2 231742711 231742711 T G intronic ITM2C NA NA NA intronic ENSG00000135916 NA NA NA NA NA 2q37.1 NA Name=c-Myc,Max Name=12 NA rs60237566 0.22 0.22 0.21 0.219449 0.2147 0.0923 0.1686 0.3555 0.2076 0.22 0.09 0.2 0.37 0.2131 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229039 NA NA 0.231047 0.336813 NA 0.181 NA 5.341153 1118 17 76497778 76497778 T C ncRNA_exonic LOC100996295 NA NA NA UTR3 ENSG00000268470 ENST00000598378:c.*1215T>C NA NA NA NA 17q25.3 NA Name=PU.1 Name=4 NA rs671899 0.47 0.47 0.442 0.434305 0.4006 0.6875 0.4236 0.3215 0.3681 0.42 0.67 0.41 0.37 0.4003 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712307 NA NA 0.357951 0.330925 NA 0.449 NA 5.341149 1118 9 19063108 19063108 T C exonic HAUS6 NA synonymous SNV HAUS6:NM_001270890:exon14:c.A1422G:p.L474L,HAUS6:NM_017645:exon14:c.A1527G:p.L509L exonic ENSG00000147874 NA synonymous SNV ENSG00000147874:ENST00000415524:exon3:c.A75G:p.L25L,ENSG00000147874:ENST00000380496:exon11:c.A1119G:p.L373L,ENSG00000147874:ENST00000380502:exon14:c.A1527G:p.L509L NA NA 9p22.1 Score=908;Name=V$GATA1_04 NA NA NA rs13302748 0.37 0.37 0.318 0.352037 0.4493 0.38 0.4035 0.1702 0.4325 0.43 0.41 0.44 0.18 0.4218 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743314 NA NA 0.454979 0.201543 NA 0.319 NA 5.3405876 1118 5 140797630 140797630 G T exonic PCDHGB7 NA synonymous SNV PCDHGB7:NM_018927:exon1:c.G204T:p.V68V,PCDHGB7:NM_032101:exon1:c.G204T:p.V68V exonic ENSG00000254122 NA synonymous SNV ENSG00000254122:ENST00000398594:exon1:c.G204T:p.V68V NA NA 5q31.3 NA NA Name=38 NA rs2015825 0.52 0.52 0.505 0.540935 0.4225 0.3244 0.6182 0.8419 0.4243 0.45 0.33 0.6 0.78 0.4736 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683228 NA NA 0.429983 0.801078 NA 0.514 NA 5.3405836 1118 9 19076673 19076673 G C exonic HAUS6 NA synonymous SNV HAUS6:NM_001270890:exon11:c.C1116G:p.P372P,HAUS6:NM_017645:exon11:c.C1221G:p.P407P exonic ENSG00000147874 NA synonymous SNV ENSG00000147874:ENST00000380496:exon8:c.C813G:p.P271P,ENSG00000147874:ENST00000380502:exon11:c.C1221G:p.P407P Score=488;Name=lod=128 NA 9p22.1 NA NA NA NA rs13286328 0.38 0.38 0.335 0.361022 0.4493 0.3681 0.4049 0.2163 0.4274 0.43 0.4 0.44 0.23 0.4232 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655948 NA NA 0.45407 0.238992 NA 0.319 NA 5.3400966 1118 2 102138184 102138184 C T intergenic RFX8,MAP4K4 dist=47019;dist=175981 NA NA ncRNA_exonic ENSG00000232556 NA NA NA Score=661;Name=lod=647 NA 2q11.2 NA Name=PU.1 NA NA rs1509497 0.55 0.55 0.551 0.546925 0.66 0.5238 0.3746 0.5182 0.6155 0.65 0.49 0.44 0.54 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330802 NA NA NA NA NA 0.514 NA 5.34 1118 1 94341267 94341267 A G exonic DNTTIP2 NA synonymous SNV DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F exonic ENSG00000067334 NA synonymous SNV ENSG00000067334:ENST00000436063:exon3:c.T1740C:p.F580F Score=605;Name=lod=382 NA 1p22.1 NA NA NA NA rs2273165 0.5 0.5 0.491 0.533746 0.4225 0.621 0.4337 0.5378 0.6237 0.42 0.63 0.46 0.5 0.4754 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139345 NA NA 0.428973 0.514387 NA 0.594 NA 5.3397936 1118 7 100552549 100552549 C A intergenic ACHE,MUC12 dist=59008;dist=60355 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C1300A:p.L434I NA NA 7q22.1 NA NA NA NA rs73163760 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4938 NA 0.21 T 0.001 B 0.0 B . . 0.723 N 0 N 3.29 T -0.984 T 0.009 T 0.055 0.644 7.456 0.871 0.294 -0.131 5.985 0.643657 NA 0.63 NA NA NA NA NA 5.3395334 1118 7 100552358 100552358 C G intergenic ACHE,MUC12 dist=58817;dist=60546 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C1109G:p.T370S NA NA 7q22.1 NA NA NA NA rs73714254 NA NA 0.363 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.4942 0.065 1 T 0.0 B 0.0 B . . 1.000 N -0.55 N 3.13 T -0.928 T 0.007 T 0.038 -2.421 0.003 1.57 0.213 -0.258 3.889 -2.420907 NA 0.83 NA NA NA 0.08 NA 5.3391334 1118 19 45451656 45451656 T G ncRNA_intronic APOC4-APOC2 NA NA NA UTR5 ENSG00000234906 ENST00000585786:c.-80T>G NA NA NA NA 19q13.32 NA Name=Egr-1 NA NA rs10422603 0.19 0.19 0.194 0.213458 0.161 0.0833 0.2075 0.2852 0.3088 0.18 0.09 0.19 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135364 NA NA NA NA NA 0.152 NA 5.339 1118 15 63449680 63449680 C G UTR5 RPS27L NM_015920:c.-76G>C NA NA UTR5 ENSG00000185088 ENST00000330964:c.-76G>C,ENST00000439025:c.-76G>C NA NA NA NA 15q22.2 NA Name=SRF,c-Myc,HEY1,NFKB,TBP,IRF1,USF-1,FOXA1_(C-20),ELK4,Pol2(b),AP-2alpha,Sin3Ak-20,KAP1,ZNF263,Pol2-4H8,Ini1,YY1,NANOG_(SC-33759),Oct-2,Max,GR,FOXA1_(SC-101058),ELF1_(SC-631),FOXA2_(SC-6554),CEBPB,GTF2F1_(RAP-74),POU2F2,GABP,TAF1,ETS1,SP2_(SC-643),Znf143_(16618-1-AP),TAF7_(SQ-8),Pol2,NRSF,Pol2(phosphoS2) Name=148 NA rs2292038 0.31 0.31 0.304 0.283546 0.492 0.2321 0.2723 0.1853 0.2628 0.48 0.22 0.3 0.18 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.206196 2.206196 NA 0.502514 0.242052 NA 0.268 NA 5.3388194 1118 7 120428799 120428799 C A exonic TSPAN12 NA synonymous SNV TSPAN12:NM_012338:exon8:c.G765T:p.P255P exonic ENSG00000106025 NA synonymous SNV ENSG00000106025:ENST00000222747:exon8:c.G765T:p.P255P,ENSG00000106025:ENST00000415871:exon9:c.G765T:p.P255P Score=633;Name=lod=498 NA 7q31.31 Score=789;Name=V$COMP1_01 NA NA NA rs41623 0.83 0.83 0.815 0.851438 0.7584 0.9593 0.8559 0.7852 0.9223 0.74 0.97 0.84 0.77 0.8032 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378074 NA NA 0.766279 0.788016 NA 0.775 NA 5.3387876 1118 5 13814682 13814682 T C intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA Name=SMC3_(ab9263),Rad21,CTCF Name=18 NA rs56046501 0.32 0.32 0.299 0.303514 0.2227 0.5605 0.2133 0.3132 0.1728 0.23 0.52 0.2 0.3 0.2304 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.361837 3.361837 NA 0.208605 0.282243 NA 0.304 NA 5.338295 1118 2 128610648 128610648 T C exonic POLR2D NA synonymous SNV POLR2D:NM_004805:exon2:c.A105G:p.S35S exonic ENSG00000144231 NA synonymous SNV ENSG00000144231:ENST00000272645:exon2:c.A105G:p.S35S,ENSG00000144231:ENST00000409955:exon2:c.A105G:p.S35S NA NA 2q14.3 NA NA NA NA rs10210695 0.12 0.12 0.122 0.123602 0.1024 0.0466 0.0735 0.2859 0.0409 0.1 0.02 0.07 0.29 0.1105 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.489933 1.489933 NA 0.115581 0.276668 NA 0.203 NA 5.3381856 1118 22 22868497 22868497 G C exonic ZNF280A NA nonsynonymous SNV ZNF280A:NM_080740:exon2:c.C1458G:p.F486L exonic ENSG00000169548 NA nonsynonymous SNV ENSG00000169548:ENST00000302097:exon2:c.C1458G:p.F486L NA NA 22q11.22 NA NA NA NA rs361762 0.53 0.53 0.477 0.473642 0.7048 0.4127 0.732 0.2383 0.4335 0.7 0.42 0.7 0.26 0.6099 0.7 1 T 0.0 B 0.0 B . . 1.000 P -2.215 N 5.65 T -0.995 T 0.000 T 0.036 -2.455 0.003 0.473 -0.038 -0.219 0.782 -2.455226 NA 1 0.680698 0.307989 NA 0.399 NA 5.3379354 1118 7 100552384 100552384 A G intergenic ACHE,MUC12 dist=58843;dist=60520 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.A1135G:p.T379A NA NA 7q22.1 NA NA NA NA rs75597914 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4954 0.011 0.58 T 0.0 B 0.0 B . . 0.723 N -0.345 N 3.14 T -0.928 T 0.008 T 0.011 -0.939 0.361 -0.495 -0.630 -0.495 0.210 -0.93945 NA 1 NA NA NA 0.007 NA 5.3379334 1118 5 140857798 140857798 T C exonic PCDHGC3 NA synonymous SNV PCDHGC3:NM_002588:exon1:c.T2115C:p.F705F,PCDHGC3:NM_032402:exon1:c.T2115C:p.F705F exonic ENSG00000240184 NA synonymous SNV ENSG00000240184:ENST00000308177:exon1:c.T2115C:p.F705F Score=378;Name=lod=46 NA 5q31.3 NA NA NA NA rs1423148 0.53 0.53 0.521 0.554313 0.4225 0.3264 0.6182 0.8903 0.4254 0.44 0.33 0.6 0.85 0.4784 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676987 NA NA 0.428023 0.825465 NA 0.551 NA 5.3377436 1118 12 96066162 96066162 C T ncRNA_exonic PGAM1P5 NA NA NA ncRNA_exonic ENSG00000257150 NA NA NA Score=763;Name=lod=1683 NA 12q22 NA NA NA NA rs2367558 0.33 0.33 0.321 0.341454 0.329 0.2599 0.3646 0.357 0.4008 0.33 0.27 0.34 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005553 NA NA NA NA NA 0.21 NA 5.3376666 1118 2 90229260 90229260 T C intergenic MIR4436A,LOC654342 dist=1117292;dist=1595449 NA NA exonic ENSG00000211633 NA nonsynonymous SNV ENSG00000211633:ENST00000390278:exon2:c.T80C:p.I27T Score=313;Name=lod=25 NA 2p11.2 NA NA NA NA rs842173 0.22 0.22 0.271 0.235623 0.164 0.0843 0.1455 0.5325 0.1278 0.18 0.06 0.14 0.54 0.1696 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.537245 NA 1 0.162346 0.495781 NA 0.254 NA 5.3373874 1118 2 29416615 29416615 G A exonic ALK NA synonymous SNV ALK:NM_004304:exon29:c.C4338T:p.T1446T exonic ENSG00000171094 NA synonymous SNV ENSG00000171094:ENST00000431873:exon4:c.C828T:p.T276T,ENSG00000171094:ENST00000389048:exon29:c.C4338T:p.T1446T NA NA 2p23.2 NA NA NA NA rs56132472 0.07 0.07 0.062 0.0591054 0.1233 0.001 0.0648 0.0779 0.0235 0.13 0.0017 0.07 0.07 0.0936 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10836 NA NA 0.112558 0.085111 NA 0.116 NA 5.3372086 1118 3 10379923 10379923 C T exonic ATP2B2 NA synonymous SNV ATP2B2:NM_001683:exon19:c.G3222A:p.A1074A,ATP2B2:NM_001001331:exon22:c.G3357A:p.A1119A exonic ENSG00000157087 NA synonymous SNV ENSG00000157087:ENST00000452124:exon18:c.G2925A:p.A975A,ENSG00000157087:ENST00000383800:exon19:c.G3222A:p.A1074A,ENSG00000157087:ENST00000460129:exon19:c.G3222A:p.A1074A,ENSG00000157087:ENST00000343816:exon21:c.G3315A:p.A1105A,ENSG00000157087:ENST00000352432:exon21:c.G3357A:p.A1119A,ENSG00000157087:ENST00000397077:exon21:c.G3222A:p.A1074A,ENSG00000157087:ENST00000360273:exon22:c.G3357A:p.A1119A NA NA 3p25.3 NA Name=CTCF NA NA rs35678 0.53 0.53 0.499 0.567891 0.4274 0.5407 0.6455 0.5953 0.6483 0.42 0.58 0.59 0.59 0.487 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428918 NA NA 0.415116 0.536768 NA 0.558 NA 5.3371506 1118 9 101553014 101553014 G T intronic ANKS6 NA NA NA intronic ENSG00000165138 NA NA NA NA NA 9q22.33 NA Name=GATA-2 Name=4 NA rs7038640 0.58 0.58 0.62 0.592652 0.663 0.3968 0.5331 0.7549 0.545 0.65 0.36 0.54 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40072 NA NA NA NA NA 0.645 NA 5.337 1118 15 85721992 85721992 T G intergenic PDE8A,LOC642423 dist=39616;dist=25915 NA NA ncRNA_exonic ENSG00000259270 NA NA NA Score=512;Name=lod=161 NA 15q25.3 NA Name=HEY1 NA NA rs8039368 0.83 0.83 0.822 0.860224 0.663 0.9653 0.8026 0.9826 0.8303 0.67 0.97 0.75 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023285 NA NA NA NA NA 0.891 NA 5.337 1118 9 122001000 122001000 G A exonic DBC1 NA synonymous SNV DBC1:NM_014618:exon5:c.C618T:p.S206S exonic ENSG00000078725 NA synonymous SNV ENSG00000078725:ENST00000265922:exon5:c.C618T:p.S206S,ENSG00000078725:ENST00000373964:exon5:c.C618T:p.S206S Score=640;Name=lod=532 NA 9q33.1 NA NA NA NA rs2274157 0.45 0.45 0.437 0.442093 0.4523 0.6736 0.4726 0.1664 0.544 0.46 0.68 0.46 0.16 0.4509 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.548344 1.548344 NA 0.426628 0.204267 ID=COSM150694;OCCURENCE=1(stomach) 0.355 NA 5.3368386 1118 3 195512343 195512343 G A exonic MUC4 NA synonymous SNV MUC4:NM_018406:exon2:c.C6108T:p.T2036T exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000463781:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000466475:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000470451:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000475231:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000477086:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000477756:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000478156:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000479406:exon2:c.C6108T:p.T2036T,ENSG00000145113:ENST00000480843:exon2:c.C6108T:p.T2036T NA NA 3q29 NA NA NA NA rs113457754 NA NA 0.238 NA NA NA NA NA NA NA NA NA NA 0.3302 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67059 NA NA NA NA ID=COSM149604,COSM149603;OCCURENCE=2(breast),1(stomach) 0.116 NA 5.3364666 1118 1 151372138 151372138 G A exonic PSMB4 NA synonymous SNV PSMB4:NM_002796:exon1:c.G75A:p.P25P exonic ENSG00000159377 NA synonymous SNV ENSG00000159377:ENST00000290541:exon1:c.G75A:p.P25P NA NA 1q21.3 Score=778;Name=V$TAXCREB_01 Name=Pol2(b),TAF1,ELK4,GABP,Pol2,TCF4,Pol2(phosphoS2),TAF7_(SQ-8),ZNF263,Pol2-4H8,ZBTB7A_(SC-34508),NFKB,HEY1,GTF2B,TBP,RXRA NA NA rs7172 0.49 0.49 0.509 0.493011 0.835 0.2123 0.4669 0.3321 0.6667 0.84 0.18 0.52 0.3 0.6746 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575375 NA NA 0.820698 0.38788 NA 0.601 NA 5.3363686 1118 17 3845927 3845927 A G exonic ATP2A3 NA synonymous SNV ATP2A3:NM_005173:exon12:c.T1518C:p.T506T,ATP2A3:NM_174953:exon12:c.T1518C:p.T506T,ATP2A3:NM_174954:exon12:c.T1518C:p.T506T,ATP2A3:NM_174955:exon12:c.T1518C:p.T506T,ATP2A3:NM_174956:exon12:c.T1518C:p.T506T,ATP2A3:NM_174957:exon12:c.T1518C:p.T506T,ATP2A3:NM_174958:exon12:c.T1518C:p.T506T exonic ENSG00000074370 NA synonymous SNV ENSG00000074370:ENST00000309890:exon12:c.T1518C:p.T506T,ENSG00000074370:ENST00000352011:exon12:c.T1518C:p.T506T,ENSG00000074370:ENST00000359983:exon12:c.T1518C:p.T506T,ENSG00000074370:ENST00000397035:exon12:c.T1518C:p.T506T,ENSG00000074370:ENST00000397041:exon12:c.T1518C:p.T506T,ENSG00000074370:ENST00000397043:exon12:c.T1518C:p.T506T NA NA 17p13.2 Score=789;Name=V$ARP1_01 NA NA NA rs17846889 0.39 0.39 0.354 0.384784 0.4553 0.0873 0.4712 0.584 0.2883 0.47 0.08 0.5 0.53 0.4154 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.327502 NA NA 0.459767 0.570132 NA 0.355 NA 5.3361996 1118 7 100549873 100549873 G A intergenic ACHE,MUC12 dist=56332;dist=63031 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.G454A:p.A152T NA NA 7q22.1 NA NA NA NA rs74193966 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.4975 0.065 1 T . . . . . . . . 0 N . . -0.980 T 0.030 T 0.109 1.671 11.55 0.306 0.060 -0.723 2.454 1.671007 1.671007 0.86 NA NA NA 0.058 NA 5.3358334 1118 5 140783596 140783596 C T exonic PCDHGA9 NA synonymous SNV PCDHGA9:NM_018921:exon1:c.C1077T:p.D359D,PCDHGA9:NM_032089:exon1:c.C1077T:p.D359D exonic ENSG00000261934 NA synonymous SNV ENSG00000261934:ENST00000573521:exon1:c.C1077T:p.D359D Score=355;Name=lod=37 NA 5q31.3 NA NA NA NA rs1363448 0.52 0.52 0.516 0.541733 0.4235 0.3274 0.6182 0.8427 0.4233 0.45 0.34 0.6 0.8 0.4745 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115272 NA NA 0.432877 0.805793 NA 0.543 NA 5.3357896 1119 1 244724092 244724092 G A exonic C1orf101 NA synonymous SNV C1orf101:NM_001242340:exon7:c.G699A:p.S233S,C1orf101:NM_001130957:exon10:c.G1152A:p.S384S,C1orf101:NM_173807:exon10:c.G1152A:p.S384S exonic ENSG00000179397 NA synonymous SNV ENSG00000179397:ENST00000428042:exon6:c.G912A:p.S304S,ENSG00000179397:ENST00000366531:exon7:c.G699A:p.S233S,ENSG00000179397:ENST00000366533:exon10:c.G1152A:p.S384S,ENSG00000179397:ENST00000366534:exon10:c.G1152A:p.S384S NA NA 1q44 NA NA NA NA rs7544794 0.25 0.25 0.246 0.273163 0.0775 0.376 0.2435 0.4334 0.1728 0.07 0.36 0.23 0.43 0.1655 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036557 NA NA 0.088837 0.381298 NA 0.239 NA 5.3348296 1119 10 26939401 26939401 A G ncRNA_intronic LINC00202-2 NA NA NA ncRNA_intronic ENSG00000231976 NA NA NA NA NA 10p12.1 NA Name=PU.1 NA NA rs3101793 0.27 0.27 0.259 0.236621 0.332 0.3065 0.2161 0.1233 0.2342 0.35 0.33 0.24 0.11 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.521665 1.521665 NA NA NA NA 0.232 NA 5.3346666 1119 10 97759583 97759583 T C ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_exonic ENSG00000227805 NA NA NA Score=733;Name=lod=1275 NA 10q24.1 NA NA NA NA rs2015026 0.33 0.33 0.28 0.292931 0.332 0.256 0.4078 0.233 0.2904 0.34 0.29 0.41 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455067 NA NA NA NA NA 0.283 NA 5.3346666 1119 16 624713 624713 C T exonic PIGQ NA synonymous SNV PIGQ:NM_004204:exon2:c.C639T:p.C213C,PIGQ:NM_148920:exon2:c.C639T:p.C213C exonic ENSG00000007541 NA synonymous SNV ENSG00000007541:ENST00000026218:exon2:c.C639T:p.C213C,ENSG00000007541:ENST00000321878:exon2:c.C639T:p.C213C,ENSG00000007541:ENST00000409439:exon2:c.C639T:p.C213C,ENSG00000007541:ENST00000422307:exon2:c.C639T:p.C213C,ENSG00000007541:ENST00000443147:exon2:c.C681T:p.C227C,ENSG00000007541:ENST00000470411:exon2:c.C639T:p.C213C,ENSG00000007541:ENST00000409527:exon3:c.C639T:p.C213C Score=349;Name=lod=35 NA 16p13.3 NA NA NA NA rs4984669 0.53 0.53 0.496 0.536542 0.4264 0.6349 0.4914 0.5053 0.6227 0.45 0.63 0.5 0.54 0.5018 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903908 NA NA 0.403869 0.483554 ID=COSM435480;OCCURENCE=1(breast) 0.449 NA 5.3345976 1119 22 24087319 24087319 A C exonic ZNF70 NA synonymous SNV ZNF70:NM_021916:exon2:c.T9G:p.V3V exonic ENSG00000187792 NA synonymous SNV ENSG00000187792:ENST00000341976:exon2:c.T9G:p.V3V NA NA 22q11.23 NA NA NA NA rs2070451 0.17 0.17 0.164 0.166134 0.1034 0.2966 0.1225 0.1732 0.1176 0.12 0.3 0.1 0.13 0.1356 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112727 NA NA 0.093256 0.180209 NA 0.167 NA 5.3344106 1119 16 49672520 49672520 A G exonic ZNF423 NA synonymous SNV ZNF423:NM_001271620:exon4:c.T363C:p.R121R,ZNF423:NM_015069:exon4:c.T543C:p.R181R exonic ENSG00000102935 NA synonymous SNV ENSG00000102935:ENST00000535559:exon2:c.T192C:p.R64R,ENSG00000102935:ENST00000567169:exon2:c.T192C:p.R64R,ENSG00000102935:ENST00000562871:exon3:c.T363C:p.R121R,ENSG00000102935:ENST00000561648:exon4:c.T543C:p.R181R,ENSG00000102935:ENST00000562520:exon4:c.T363C:p.R121R,ENSG00000102935:ENST00000563137:exon4:c.T363C:p.R121R,ENSG00000102935:ENST00000262383:exon5:c.T543C:p.R181R Score=750;Name=lod=1495 NA 16q12.1 NA NA NA NA rs3803665 0.55 0.55 0.572 0.578674 0.4254 0.4603 0.4597 0.9115 0.4928 0.44 0.48 0.42 0.9 0.4796 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426338 NA NA 0.427558 0.848726 NA 0.486 NA 5.3341086 1119 5 178199558 178199558 C G ncRNA_exonic AACSP1 NA NA NA ncRNA_exonic ENSG00000250420 NA NA NA Score=578;Name=lod=297 NA 5q35.3 NA NA NA NA rs13354485 0.34 0.34 0.332 0.354633 0.333 0.2986 0.317 0.472 0.3027 0.34 0.28 0.31 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337884 NA NA NA NA NA 0.239 NA 5.3336666 1119 7 100549703 100549703 C T intergenic ACHE,MUC12 dist=56162;dist=63201 NA NA exonic ENSG00000228273 NA nonsynonymous SNV ENSG00000228273:ENST00000379458:exon2:c.C284T:p.P95L NA NA 7q22.1 NA NA NA NA rs78164286 NA NA NA 0.00199681 NA 0.0069 0.0043 NA NA NA NA NA NA 0.4999 0.48 0.31 T . . . . . . . . 0 N . . -1.003 T 0.050 T 0.15 0.862 8.492 0.824 0.291 -0.098 5.983 0.862166 NA 1 NA NA NA 0.478 NA 5.3334334 1119 1 71437337 71437337 T C UTR3 PTGER3 NM_198719:c.*76A>G NA NA UTR3 ENSG00000050628 ENST00000306666:c.*76A>G NA NA NA NA 1p31.1 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064932 NA NA NA NA NA NA NA 5.3333334 1119 1 145282093 145282093 G A UTR3 NOTCH2NL NM_203458:c.*62G>A NA NA UTR3 ENSG00000213240 ENST00000362074:c.*62G>A,ENST00000369340:c.*62G>A NA NA NA NA 1q21.1 NA NA Name=14 NA rs976689 NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483072 NA NA NA NA NA NA NA 5.3333334 1119 1 159804970 159804970 C G UTR3 C1orf204 NM_001134233:c.*977G>C NA NA UTR3 ENSG00000188004 ENST00000368102:c.*977G>C NA NA NA NA 1q23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1706 NA NA NA NA NA NA NA 5.3333334 1119 2 91815539 91815539 A G intergenic NONE,LOC654342 dist=NONE;dist=9170 NA NA intergenic ENSG00000233991,ENSG00000143429 dist=6092;dist=7727 NA NA NA NA 2p11.1 NA Name=ZNF263,Pol2(b),GABP,USF-1,CTCF Name=148 NA rs1640020 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195378 NA NA NA NA NA 0.5 NA 5.3333334 1119 2 133018770 133018770 T C intergenic ANKRD30BL,GPR39 dist=3228;dist=155377 NA NA intergenic ENSG00000221288,ENSG00000233786 dist=4117;dist=1131 NA NA Score=728;Name=lod=1217 NA 2q21.2 NA NA Name=147 NA rs62165051 NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017435 NA NA NA NA NA 0.435 NA 5.3333334 1119 2 133018785 133018785 T C intergenic ANKRD30BL,GPR39 dist=3243;dist=155362 NA NA intergenic ENSG00000221288,ENSG00000233786 dist=4132;dist=1116 NA NA Score=728;Name=lod=1217 NA 2q21.2 NA NA Name=147 NA rs62165052 NA NA 0.336 NA NA NA NA NA NA NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073333 NA NA NA NA NA 0.442 NA 5.3333334 1119 4 176733454 176733454 T G UTR5 GPM6A NM_201591:c.-76A>C NA NA UTR5 ENSG00000150625 ENST00000393658:c.-76A>C NA NA NA NA 4q34.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.720921 NA NA NA NA NA NA NA 5.3333334 1119 7 98994241 98994241 G A UTR3 PDAP1 NM_014891:c.*64C>T NA NA UTR3 ENSG00000106244 ENST00000350498:c.*64C>T,ENST00000426447:c.*510C>T NA NA NA NA 7q22.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41764 NA NA NA NA NA NA NA 5.3333334 1119 12 8073897 8073897 G A UTR3 SLC2A3 NM_006931:c.*112C>T NA NA UTR3 ENSG00000059804 ENST00000075120:c.*112C>T NA NA Score=425;Name=lod=71 NA 12p13.31 NA NA NA NA rs113911085 NA NA 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978064 NA NA NA NA NA NA NA 5.3333334 1119 12 8073901 8073901 T C UTR3 SLC2A3 NM_006931:c.*108A>G NA NA UTR3 ENSG00000059804 ENST00000075120:c.*108A>G NA NA Score=425;Name=lod=71 NA 12p13.31 NA NA NA NA rs111815763 NA NA 0.117 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067831 NA NA NA NA NA NA NA 5.3333334 1119 12 57335163 57335163 C T intergenic SDR9C7,RDH16 dist=6974;dist=10053 NA NA intergenic ENSG00000170426,ENSG00000139547 dist=6974;dist=10056 NA NA NA NA 12q13.3 NA Name=GR,c-Myc,FOSL2 Name=38 NA rs66881926 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.098995 NA NA NA NA NA 0.203 NA 5.3333334 1119 16 87436764 87436764 A G UTR3 MAP1LC3B NM_022818:c.*61A>G NA NA UTR3 ENSG00000140941 ENST00000268607:c.*61A>G,ENST00000570189:c.*384A>G,ENST00000564844:c.*1173A>G,ENST00000534986:c.*61A>G NA NA Score=366;Name=lod=41 NA 16q24.2 NA NA NA NA rs1054528 0.79 0.79 0.67 NA NA NA NA NA NA 0.93 0.96 0.84 0.32 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.30693 3.30693 NA NA NA NA 0.717 NA 5.3333334 1119 17 25289503 25289503 T C intergenic NONE,MIR4522 dist=NONE;dist=331433 NA NA intergenic NONE,ENSG00000263433 dist=NONE;dist=19217 NA NA Score=531;Name=lod=192 NA 17q11.1 NA Name=SUZ12 NA NA rs72839386 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094163 NA NA NA NA NA 0.094 NA 5.3333334 1119 17 33767538 33767538 G A UTR3 SLFN13 NM_144682:c.*76C>T NA NA UTR3 ENSG00000154760 ENST00000360502:c.*76C>T,ENST00000285013:c.*76C>T,ENST00000526861:c.*76C>T,ENST00000542635:c.*76C>T,ENST00000530782:c.*1739C>T,ENST00000534689:c.*76C>T,ENST00000533791:c.*76C>T NA NA NA NA 17q12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129428 NA NA NA NA NA NA NA 5.3333334 1119 X 102930960 102930960 A G UTR3 MORF4L2 NM_001142432:c.*129T>C,NM_001142419:c.*129T>C,NM_001142427:c.*129T>C,NM_001142426:c.*129T>C,NM_001142425:c.*129T>C,NM_001142424:c.*129T>C,NM_012286:c.*129T>C,NM_001142428:c.*129T>C,NM_001142429:c.*129T>C,NM_001142430:c.*129T>C,NM_001142431:c.*129T>C,NM_001142418:c.*129T>C,NM_001142422:c.*129T>C,NM_001142421:c.*129T>C,NM_001142420:c.*129T>C,NM_001142423:c.*129T>C NA NA UTR3 ENSG00000123562 ENST00000360458:c.*129T>C,ENST00000451301:c.*129T>C,ENST00000422154:c.*129T>C,ENST00000433176:c.*129T>C,ENST00000372620:c.*129T>C,ENST00000423833:c.*129T>C,ENST00000441076:c.*129T>C NA NA Score=531;Name=lod=192 NA Xq22.2 NA NA NA NA rs874 0.4 0.4 0.37997 NA NA NA NA NA NA 0.45 0.63 0.41 0.07 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116248 NA NA NA NA NA 0.312 NA 5.3333334 1119 Y 28817238 28817238 G A intergenic TTTY3B,NONE dist=937703;dist=NONE NA NA intergenic ENSG00000237917,NONE dist=36439;dist=NONE NA NA NA NA Yq12 NA NA Name=61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595372 NA NA NA NA NA NA NA 5.3333334 1119 1 168025400 168025400 G C intronic DCAF6 NA NA NA ncRNA_exonic ENSG00000224837 NA NA NA Score=713;Name=lod=1050 NA 1q24.2 NA NA NA NA rs3977721 NA NA 0.535 NA NA NA NA NA NA NA NA NA NA NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221171 NA NA NA NA NA 0.551 NA 5.3333333 1119 1 168025409 168025409 A G intronic DCAF6 NA NA NA ncRNA_exonic ENSG00000224837 NA NA NA Score=713;Name=lod=1050 NA 1q24.2 NA NA NA NA rs3977722 NA NA 0.559 NA NA NA NA NA NA NA NA NA NA NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.830545 1.830545 NA NA NA NA 0.551 NA 5.3333333 1119 1 214656333 214656333 G A intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=599;Name=lod=362 NA 1q41 NA NA NA NA rs75490133 NA NA 0.281 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385876 NA NA NA NA NA 0.196 NA 5.3333333 1119 1 214656362 214656362 T C intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs79153607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.968861 NA NA NA NA NA 0.486 NA 5.3333333 1119 1 214656378 214656378 C T intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs75388246 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.710466 1.710466 NA NA NA NA 0.478 NA 5.3333333 1119 1 214656413 214656413 T C intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs74407488 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.035305 2.035305 NA NA NA NA 0.333 NA 5.3333333 1119 1 214656464 214656464 G T intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs75275552 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.28192 1.28192 NA NA NA NA NA NA 5.3333333 1119 1 214656500 214656500 T C intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs76083445 NA NA 0.295 NA NA NA NA NA NA NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378912 1.378912 NA NA NA NA 0.406 NA 5.3333333 1119 1 214656575 214656575 C T intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs74142715 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520211 1.520211 NA NA NA NA 0.225 NA 5.3333333 1119 1 214656668 214656668 G C intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs55783822 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397876 NA NA NA NA NA NA NA 5.3333333 1119 1 214656669 214656669 C T intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs59683713 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911785 NA NA NA NA NA NA NA 5.3333333 1119 1 214656697 214656697 C T intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=471;Name=lod=109 NA 1q41 NA NA NA NA rs3795525 0.2 0.2 0.162 NA NA NA NA NA NA 0.28 0.14 0.24 0.13 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104336 NA NA NA NA NA 0.181 NA 5.3333333 1119 1 248247713 248247713 C T intronic OR2L13 NA NA NA ncRNA_exonic ENSG00000197067 NA NA NA Score=419;Name=lod=67 NA 1q44 NA NA NA NA rs12034735 0.08 0.08 0.059 NA NA NA NA NA NA 0.06 0.12 0.02 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.629858 1.629858 NA NA NA NA 0.051 NA 5.3333333 1119 2 3651757 3651757 G C intronic COLEC11 NA NA NA ncRNA_exonic ENSG00000237370 NA NA NA NA NA 2p25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482244 NA NA NA NA NA NA NA 5.3333333 1119 2 175613059 175613059 A G intronic CHRNA1 NA NA NA ncRNA_intronic ENSG00000236449 NA NA NA NA NA 2q31.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.794656 NA NA NA NA NA NA NA 5.3333333 1119 4 65077 65077 A T intronic ZNF595,ZNF718 NA NA NA ncRNA_exonic ENSG00000207643 NA NA NA NA NA 4p16.3 NA NA Name=34 NA rs4112055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543836 NA NA NA NA NA 0.5 NA 5.3333333 1119 6 129478911 129478911 G C intronic LAMA2 NA NA NA ncRNA_exonic ENSG00000219642 NA NA NA Score=800;Name=lod=2376 NA 6q22.33 NA NA NA NA rs11757127 NA NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728692 NA NA NA NA NA NA NA 5.3333333 1119 6 129478995 129478995 G A intronic LAMA2 NA NA NA ncRNA_exonic ENSG00000219642 NA NA NA Score=800;Name=lod=2376 NA 6q22.33 NA NA NA NA rs11757146 NA NA 0.315 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.262116 NA NA NA NA NA NA NA 5.3333333 1119 8 29931663 29931663 C G ncRNA_intronic MIR548O2 NA NA NA intronic ENSG00000133872 NA NA NA NA NA 8p12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33834 NA NA NA NA NA NA NA 5.3333333 1119 10 46965640 46965640 G A intronic SYT15 NA NA NA ncRNA_intronic ENSG00000231187 NA NA NA NA NA 10q11.22 NA Name=c-Myc NA NA rs3737223 0.1 0.1 0.075 NA NA NA NA NA NA 0.11 0.04 0.09 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125754 NA NA NA NA NA 0.101 NA 5.3333333 1119 12 123466688 123466688 G A intronic ARL6IP4 NA NA NA ncRNA_intronic ENSG00000256028 NA NA NA NA NA 12q24.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059683 NA NA NA NA NA NA NA 5.3333333 1119 15 76552928 76552928 T C intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=317;Name=lod=26 NA 15q24.2 NA NA NA NA rs376914006 NA NA 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527596 NA NA NA NA NA NA NA 5.3333333 1119 15 76552974 76552974 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=503;Name=lod=148 NA 15q24.2 NA NA NA NA rs78958410 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10024 NA NA NA NA NA NA NA 5.3333333 1119 15 76553050 76553050 T C intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=503;Name=lod=148 NA 15q24.2 NA NA NA NA rs77148253 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548464 NA NA NA NA NA 0.014 NA 5.3333333 1119 15 76553124 76553124 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=503;Name=lod=148 NA 15q24.2 NA NA NA NA rs80012725 NA NA 0.028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406743 NA NA NA NA NA NA NA 5.3333333 1119 15 76553327 76553327 T C intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs113155777 NA NA 0.009 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052871 NA NA NA NA NA 0.043 NA 5.3333333 1119 15 76553333 76553333 C T intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs62030244 0.13 0.13 0.048 NA NA NA NA NA NA 0.21 0.03 0.2 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532107 NA NA NA NA NA 0.058 NA 5.3333333 1119 15 76553368 76553368 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs113033853 NA NA 0.055 NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258611 NA NA NA NA NA 0.029 NA 5.3333333 1119 15 76553389 76553389 A T intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs78805302 NA NA 0.048 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142734 NA NA NA NA NA 0.014 NA 5.3333333 1119 15 76553401 76553401 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs77851137 NA NA 0.031 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590033 NA NA NA NA NA 0.014 NA 5.3333333 1119 15 76553420 76553420 A C intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs371771039 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312702 NA NA NA NA NA NA NA 5.3333333 1119 15 76553428 76553428 C T intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs376627724 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590008 NA NA NA NA NA 0.007 NA 5.3333333 1119 15 76553434 76553434 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs368461920 NA NA 0.005 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427404 NA NA NA NA NA 0.007 NA 5.3333333 1119 15 76553486 76553486 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs76144335 NA NA 0.055 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419586 NA NA NA NA NA 0.007 NA 5.3333333 1119 15 76553500 76553500 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA Score=568;Name=lod=271 NA 15q24.2 NA NA NA NA rs113576573 NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741479 NA NA NA NA NA 0.007 NA 5.3333333 1119 16 600880 600880 T G intronic SOLH NA NA NA ncRNA_intronic ENSG00000261691 NA NA NA NA NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067451 NA NA NA NA NA NA NA 5.3333333 1119 17 20135029 20135029 C G intronic SPECC1 NA NA NA ncRNA_intronic ENSG00000263494 NA NA NA NA NA 17p11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49955 NA NA NA NA NA NA NA 5.3333333 1119 19 41312319 41312319 G A ncRNA_intronic RAB4B-EGLN2 NA NA NA intronic ENSG00000171570,ENSG00000268797,ENSG00000269858 NA NA NA NA NA 19q13.2 NA NA Name=4 NA rs78589870 0.03 0.03 0.029 0.029353 NA NA 0.0173 0.1021 NA NA NA 0.03 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26433 1.26433 NA NA NA NA 0.022 NA 5.3333333 1119 20 29632831 29632831 T G ncRNA_intronic FRG1B NA NA NA intronic ENSG00000149531 NA NA NA NA NA 20q11.21 NA NA Name=11 NA rs148344088 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300705 NA NA NA NA NA NA NA 5.3333333 1119 20 29632832 29632832 A C ncRNA_intronic FRG1B NA NA NA intronic ENSG00000149531 NA NA NA NA NA 20q11.21 NA NA Name=11 NA rs12162451 NA NA 0.466 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.862093 NA NA NA NA NA NA NA 5.3333333 1119 21 11029565 11029565 G A intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA Score=699;Name=lod=922 NA 21p11.1 NA NA NA NA rs7510046 NA NA 0.286 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429314 NA NA NA NA NA NA NA 5.3333333 1119 21 11039487 11039487 A C intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA Name=6 NA rs596858 NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559932 NA NA NA NA NA 0.152 NA 5.3333333 1119 21 11046650 11046650 C G intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA Name=4 NA rs2979622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234153 NA NA NA NA NA 0.08 NA 5.3333333 1119 22 40271614 40271614 C G intronic ENTHD1 NA NA NA ncRNA_exonic ENSG00000226085 NA NA NA Score=732;Name=lod=1264 NA 22q13.1 NA NA NA NA rs137945 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693469 NA NA NA NA NA 0.587 NA 5.3333333 1119 19 53754820 53754820 T C UTR5 ZNF677 NM_182609:c.-17A>G NA NA UTR5 ENSG00000197928 ENST00000333952:c.-17A>G,ENST00000598513:c.-17A>G,ENST00000594517:c.-17A>G,ENST00000599012:c.-17A>G,ENST00000594681:c.-17A>G,ENST00000598806:c.-17A>G,ENST00000601828:c.-17A>G,ENST00000601413:c.-17A>G NA NA NA NA 19q13.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592753 NA NA NA NA NA NA NA 5.3332426 1119 16 2580208 2580208 A G UTR3 CEMP1 NM_001048212:c.*123T>C NA NA UTR3 ENSG00000162066,ENSG00000205923 ENST00000302956:c.*644A>G;ENST00000382350:c.*123T>C,ENST00000567119:c.*123T>C NA NA NA NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669807 NA NA NA NA NA NA NA 5.3332334 1119 5 153382518 153382518 G A exonic FAM114A2 NA synonymous SNV FAM114A2:NM_018691:exon10:c.C1005T:p.T335T exonic ENSG00000055147 NA synonymous SNV ENSG00000055147:ENST00000520313:exon9:c.C795T:p.T265T,ENSG00000055147:ENST00000351797:exon10:c.C1005T:p.T335T,ENSG00000055147:ENST00000522858:exon10:c.C1005T:p.T335T,ENSG00000055147:ENST00000520667:exon11:c.C1005T:p.T335T NA NA 5q33.2 NA NA NA NA rs34136150 0.1 0.1 0.106 0.0930511 0.1143 0.0179 0.0764 0.1891 0.0307 0.11 0.02 0.09 0.19 0.0974 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569863 NA NA 0.12186 0.156378 NA 0.123 NA 5.3331066 1119 15 81628871 81628871 T C intronic TMC3 NA NA NA ncRNA_intronic ENSG00000259343 NA NA NA Score=415;Name=lod=65 NA 15q25.1 NA NA NA NA rs139364886 0.02 0.02 0.019 0.0259585 NA NA 0.0043 0.0961 NA NA NA 0.0028 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026086 NA NA 0.000314 0.065751 NA 0.043 NA 5.3330193 1119 13 111590550 111590550 A G intergenic ANKRD10,ARHGEF7 dist=23134;dist=177074 NA NA ncRNA_exonic ENSG00000227105 NA NA NA Score=628;Name=lod=474 NA 13q34 NA NA Name=3 NA rs9515318 0.58 0.58 0.731 0.572085 0.667 0.754 0.5836 0.382 0.5358 0.61 0.71 0.56 0.38 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.669114 1.669114 NA NA NA NA 0.63 NA 5.333 1119 2 25048890 25048890 G A intronic ADCY3 NA NA NA ncRNA_exonic ENSG00000271936 NA NA NA NA NA 2p23.3 NA NA Name=52 NA rs200802595 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00006988 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64031 NA NA 0.000349 0 NA NA NA 5.3329144 1119 22 42504918 42504918 G A ncRNA_intronic NDUFA6-AS1 NA NA NA ncRNA_exonic ENSG00000213790 NA NA NA Score=728;Name=lod=1210 NA 22q13.2 NA NA NA NA rs8141702 0.28 0.28 0.26 0.296326 0.334 0.1498 0.317 0.323 0.3579 0.33 0.17 0.3 0.33 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.458304 1.458304 NA NA NA NA 0.29 NA 5.3326666 1119 6 31133943 31133943 C A UTR5 POU5F1 NM_203289:c.-224G>T NA NA UTR5 ENSG00000204531 ENST00000513407:c.-527G>T,ENST00000471529:c.-527G>T NA NA NA NA 6p21.33 NA NA Name=3 NA rs3130932 0.68 0.68 0.675 0.68131 0.668 0.6419 0.6686 0.8033 0.5798 0.66 0.59 0.68 0.81 0.6766 0.81 . . . . . . . . 1.000 P . . . . -1.075 T 0.064 T . 0.661 7.541 2.31 0.890 0.785 7.573 0.660691 NA 0 0.656264 0.795008 NA 0.703 NA 5.3324694 1119 2 98823792 98823792 A C intronic VWA3B NA NA NA ncRNA_exonic ENSG00000231635 NA NA NA Score=828;Name=lod=3078 NA 2q11.2 NA NA NA NA rs189839061 0.0014 0.0014 NA 0.00119808 0.001 NA 0.0072 NA NA NA NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459255 NA NA NA NA NA NA NA 5.3323333 1119 6 73765067 73765067 G A intronic KCNQ5 NA NA NA ncRNA_exonic ENSG00000220515 NA NA NA Score=753;Name=lod=1530 NA 6q13 NA NA NA NA rs73535934 0.04 0.04 0.044 0.0509185 0.001 NA 0.013 0.18 0.0072 NA NA 0.01 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351566 NA NA NA NA NA 0.072 NA 5.3323333 1119 21 33079155 33079155 A T intronic SCAF4 NA NA NA ncRNA_exonic ENSG00000229046 NA NA NA Score=587;Name=lod=323 NA 21q22.11 NA NA NA NA rs142612018 0.0027 0.0027 0.004 0.00399361 0.001 NA NA 0.0144 NA NA NA NA 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.092214 NA NA NA NA NA NA NA 5.3323333 1119 22 42463689 42463689 T C intronic NAGA NA NA NA intronic ENSG00000198951 NA NA NA NA NA 22q13.2 NA Name=AP-2gamma,AP-2alpha Name=2 NA rs133368 0.66 0.66 0.648 0.644369 0.668 0.8522 0.6744 0.4493 0.6483 0.67 0.84 0.69 0.43 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208474 NA NA NA NA NA 0.616 NA 5.332 1119 7 107834734 107834734 C T exonic NRCAM NA synonymous SNV NRCAM:NM_001037132:exon13:c.G1602A:p.A534A,NRCAM:NM_001193583:exon15:c.G1545A:p.A515A,NRCAM:NM_001193584:exon15:c.G1545A:p.A515A,NRCAM:NM_005010:exon15:c.G1584A:p.A528A,NRCAM:NM_001193582:exon16:c.G1602A:p.A534A exonic ENSG00000091129 NA synonymous SNV ENSG00000091129:ENST00000425651:exon13:c.G1602A:p.A534A,ENSG00000091129:ENST00000351718:exon15:c.G1584A:p.A528A,ENSG00000091129:ENST00000379024:exon15:c.G1545A:p.A515A,ENSG00000091129:ENST00000379028:exon16:c.G1602A:p.A534A,ENSG00000091129:ENST00000413765:exon16:c.G1545A:p.A515A,ENSG00000091129:ENST00000379022:exon17:c.G1602A:p.A534A Score=506;Name=lod=152 NA 7q31.1 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs404287 0.73 0.73 0.703 0.697684 0.7992 0.88 0.8012 0.4402 0.68 0.8 0.88 0.8 0.4 0.7559 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320105 1.320105 NA 0.779767 0.506582 NA 0.609 NA 5.3317996 1119 2 209358027 209358027 C T exonic PTH2R NA synonymous SNV PTH2R:NM_005048:exon13:c.C1296T:p.N432N exonic ENSG00000144407 NA synonymous SNV ENSG00000144407:ENST00000272847:exon13:c.C1296T:p.N432N Score=346;Name=lod=34 NA 2q34 NA NA Name=4 NA rs3820900 0.73 0.73 0.713 0.741014 0.7753 0.5417 0.8127 0.8631 0.6953 0.77 0.54 0.82 0.83 0.7786 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003269 NA NA 0.781163 0.864049 NA 0.826 NA 5.3316036 1119 3 52408193 52408193 A G intronic DNAH1 NA NA NA ncRNA_exonic ENSG00000239557 NA NA NA Score=799;Name=lod=2364 NA 3p21.1 NA NA NA NA rs138276682 0.0009 0.0009 0.001 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.074893 NA NA NA NA NA NA NA 5.3313333 1119 8 22350200 22350200 A G intronic PPP3CC NA NA NA ncRNA_exonic ENSG00000254272 NA NA NA Score=743;Name=lod=1391 NA 8p21.3 NA NA NA NA rs74985144 0.08 0.08 0.091 0.095647 0.002 0.0893 0.0447 0.2564 0.0174 NA 0.06 0.05 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150846 NA NA NA NA NA 0.08 NA 5.3313333 1119 11 118431452 118431452 C T intronic IFT46 NA NA NA ncRNA_exonic ENSG00000243431 NA NA NA Score=809;Name=lod=2592 NA 11q23.3 NA NA NA NA rs143305187 0.0037 0.0037 0.002 0.00658946 0.002 0.0109 0.0014 0.0061 0.0112 0.0026 0.01 0.0028 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653192 NA NA NA NA NA NA NA 5.3313333 1119 22 40146156 40146156 C T intronic ENTHD1 NA NA NA ncRNA_exonic ENSG00000235647 NA NA NA NA NA 22q13.1 NA NA NA NA NA NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.276183 2.276183 NA NA NA NA 0.007 NA 5.3313333 1119 19 55708573 55708573 G A exonic PTPRH NA synonymous SNV PTPRH:NM_001161440:exon7:c.C1368T:p.A456A,PTPRH:NM_002842:exon9:c.C1902T:p.A634A exonic ENSG00000080031 NA synonymous SNV ENSG00000080031:ENST00000263434:exon7:c.C1368T:p.A456A,ENSG00000080031:ENST00000376350:exon9:c.C1902T:p.A634A NA NA 19q13.42 NA NA NA NA rs2288520 0.07 0.07 0.064 0.0690895 0.1262 0.0536 0.0706 0.0151 0.0982 0.13 0.05 0.08 0.01 0.0952 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153755 NA NA 0.113953 0.027463 NA 0.101 NA 5.3313136 1119 10 37508450 37508450 A C exonic ANKRD30A NA synonymous SNV ANKRD30A:NM_052997:exon34:c.A3642C:p.A1214A exonic ENSG00000148513 NA synonymous SNV ENSG00000148513:ENST00000361713:exon34:c.A3642C:p.A1214A,ENSG00000148513:ENST00000602533:exon34:c.A3642C:p.A1214A,ENSG00000148513:ENST00000374660:exon40:c.A3999C:p.A1333A NA Name=Metabolite levels 10p11.21 NA NA NA NA rs1148259 0.49 0.49 0.49 0.533546 0.4125 0.6746 0.5 0.382 0.7413 0.4 0.71 0.46 0.38 0.4997 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.498382 NA NA 0.42318 0.37654 NA 0.478 NA 5.3312866 1119 11 21581805 21581805 C T exonic NELL1 NA synonymous SNV NELL1:NM_201551:exon16:c.C1716T:p.G572G,NELL1:NM_006157:exon17:c.C1857T:p.G619G exonic ENSG00000165973 NA synonymous SNV ENSG00000165973:ENST00000325319:exon16:c.C1686T:p.G562G,ENSG00000165973:ENST00000532434:exon16:c.C1716T:p.G572G,ENSG00000165973:ENST00000357134:exon17:c.C1857T:p.G619G,ENSG00000165973:ENST00000298925:exon18:c.C1941T:p.G647G Score=623;Name=lod=452 NA 11p15.1 Score=874;Name=V$SPZ1_01 NA NA NA rs8176789 0.62 0.62 0.586 0.543131 0.8101 0.5774 0.634 0.2481 0.5675 0.81 0.63 0.65 0.28 0.7068 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187783 NA NA 0.818605 0.36995 NA 0.623 NA 5.3311616 1119 1 55134623 55134623 C G ncRNA_intronic HEATR8-TTC4 NA NA NA intronic ENSG00000184313,ENSG00000271723 NA NA NA NA NA 1p32.3 NA Name=CTCF NA NA rs116481805 0.01 0.01 0.006 0.0091853 NA NA 0.0043 0.0325 NA NA NA 0.01 0.02 0.0022 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.33081 1.33081 NA 0.000245 0.019533 NA 0.007 NA 5.3308883 1119 17 19641834 19641834 C T intronic ALDH3A1 NA NA NA ncRNA_exonic ENSG00000264785 NA NA NA NA NA 17p11.2 NA Name=Pol2 NA NA rs79434246 0.0027 0.0027 0.001 0.00139776 0.003 NA 0.0058 NA NA 0.004 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194879 NA NA NA NA NA NA NA 5.3303333 1119 9 135804266 135804266 G A UTR5 TSC1 NM_000368:c.-7C>T,NM_001162427:c.-7C>T,NM_001162426:c.-7C>T NA NA UTR5 ENSG00000165699 ENST00000298552:c.-7C>T,ENST00000545250:c.-7C>T,ENST00000440111:c.-7C>T,ENST00000403810:c.-7C>T NA NA NA NA 9q34.13 NA NA NA NA rs62621221 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0013 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.193053 NA NA 0.000814 0.000227 NA NA CLINSIG=untested|non-pathogenic;CLNDBN=Tuberous_sclerosis_syndrome|not_provided;CLNREVSTAT=not|single;CLNACC=RCV000054968.1|RCV000125621.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK1220:C0041341:191100:7199000|. 5.3302194 1119 8 129162497 129162497 A C downstream MIR1208 NA NA NA downstream ENSG00000221261 NA NA NA NA NA 8q24.21 NA Name=GR,FOSL1_(SC-183),p300,Pol2,eGFP-JunD,GATA2_(CG2-96),eGFP-JunB,JunD,FOSL2,Egr-1,c-Jun Name=60 NA rs10956412 0.21 0.21 0.217 0.221645 0.171 0.2302 0.1816 0.23 0.2822 0.18 0.25 0.17 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791584 NA NA 0.165619 0.202312 NA 0.225 NA 5.3300476 1119 22 42473603 42473603 C T exonic FAM109B NA synonymous SNV FAM109B:NM_001002034:exon3:c.C306T:p.A102A exonic ENSG00000177096 NA synonymous SNV ENSG00000177096:ENST00000321753:exon3:c.C306T:p.A102A,ENSG00000177096:ENST00000419475:exon3:c.C306T:p.A102A NA NA 22q13.2 NA NA NA Score=150;Name=1504153_0_+_150 rs133383 0.35 0.35 0.289 0.327476 0.4592 0.2917 0.4971 0.053 0.4796 0.47 0.33 0.5 0.06 0.4372 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.482102 NA NA 0.440233 0.118702 NA 0.167 NA 5.3300336 1119 4 100009738 100009738 G C intronic ADH5 NA NA NA intronic ENSG00000197894 NA NA NA NA NA 4q23 NA Name=YY1_(C-20),Pol2-4H8,Pol2,Pol2(phosphoS2),YY1,TAF1,TBP,RXRA,CCNT2,HEY1 Name=146 NA rs1154401 0.77 0.77 0.71 0.788738 0.67 0.999 0.755 0.6747 0.8722 0.67 1 0.73 0.66 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858757 NA NA NA NA NA NA NA 5.33 1119 3 132277866 132277866 G A exonic ACAD11 NA synonymous SNV ACAD11:NM_032169:exon20:c.C2292T:p.I764I exonic ENSG00000240303 NA synonymous SNV ENSG00000240303:ENST00000355458:exon18:c.C1980T:p.I660I,ENSG00000240303:ENST00000545291:exon18:c.C867T:p.I289I,ENSG00000240303:ENST00000264990:exon20:c.C2292T:p.I764I NA NA 3q22.1 NA NA NA NA rs2270801 0.1 0.1 0.081 0.0890575 0.1123 0.0972 0.134 0.0053 0.138 0.13 0.1 0.14 0.01 0.115 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090737 NA NA 0.109677 0.024966 NA 0.065 NA 5.3296896 1119 22 42504679 42504679 A G ncRNA_intronic NDUFA6-AS1 NA NA NA ncRNA_exonic ENSG00000213790 NA NA NA Score=728;Name=lod=1210 NA 22q13.2 NA NA NA NA rs6002616 0.31 0.31 0.298 0.326478 0.337 0.1508 0.3271 0.4297 0.3569 0.33 0.17 0.31 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.822534 1.822534 NA NA NA NA 0.333 NA 5.3296666 1119 3 195395354 195395354 A G ncRNA_intronic SDHAP2 NA NA NA ncRNA_intronic ENSG00000215837,ENSG00000242086 NA NA NA NA NA 3q29 NA Name=Pol2-4H8 NA NA rs80181010 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3372 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002754 NA NA NA NA NA 0.014 NA 5.3294666 1119 8 95143138 95143138 A G exonic CDH17 NA synonymous SNV CDH17:NM_001144663:exon16:c.T2250C:p.G750G,CDH17:NM_004063:exon16:c.T2250C:p.G750G exonic ENSG00000079112 NA synonymous SNV ENSG00000079112:ENST00000441892:exon12:c.T1608C:p.G536G,ENSG00000079112:ENST00000027335:exon16:c.T2250C:p.G750G,ENSG00000079112:ENST00000450165:exon16:c.T2250C:p.G750G NA NA 8q22.1 NA NA NA NA rs2513797 0.08 0.08 0.066 0.0836661 0.1153 NA 0.1009 0.1339 0.0573 0.1 NA 0.12 0.11 0.1 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833994 NA NA 0.121977 0.111666 NA 0.058 NA 5.3293896 1119 12 71065754 71065754 G A intronic PTPRR NA NA NA ncRNA_exonic ENSG00000257302 NA NA NA Score=352;Name=lod=36 NA 12q15 NA NA NA NA rs140477906 0.0018 0.0018 0.002 0.000798722 0.004 NA NA NA NA 0.01 NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086956 NA NA NA NA NA 0.007 NA 5.3293333 1119 19 10692117 10692117 T C intronic AP1M2 NA NA NA intronic ENSG00000129354 NA NA NA NA NA 19p13.2 NA Name=Pol2 Name=3 NA rs2304161 0.36 0.36 0.294 0.372404 0.1779 0.6627 0.5115 0.2557 0.3323 0.17 0.67 0.45 0.24 0.2923 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.598499 NA NA 0.200542 0.220755 ID=COSN165723;OCCURENCE=1(breast) 0.239 NA 5.329258 1119 19 1095334 1095334 G A UTR5 POLR2E NM_002695:c.-20C>T NA NA UTR5 ENSG00000099817 ENST00000586746:c.-20C>T,ENST00000215587:c.-20C>T,ENST00000591767:c.-20C>T,ENST00000589737:c.-20C>T NA NA NA NA 19p13.3 NA Name=CCNT2,NFKB,HEY1,TBP,IRF1,Nrf1,ELK4,Sin3Ak-20,Pol2-4H8,YY1,E2F4,HMGN3,ETS1,TAF1,YY1_(C-20),SP1,Mxi1_(bHLH),Pol2,Pol2(phosphoS2) NA NA rs371018866 NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA 0.0004 0.0009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.505641 1.505641 NA 0.000944 0 NA NA NA 5.3289894 1119 3 179689365 179689365 C T intronic PEX5L NA NA NA intronic ENSG00000114757 NA NA NA Score=317;Name=lod=26 NA 3q26.33 NA Name=MafK_(ab50322) NA NA rs3774257 0.3 0.3 0.29 0.297724 0.2008 0.5268 0.281 0.2383 0.2536 0.2 0.52 0.25 0.23 0.2643 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.369993 3.369993 NA 0.206094 0.233999 NA 0.268 NA 5.328806 1119 6 90642358 90642358 G A exonic BACH2 NA synonymous SNV BACH2:NM_001170794:exon7:c.C2295T:p.N765N,BACH2:NM_021813:exon9:c.C2295T:p.N765N exonic ENSG00000112182 NA synonymous SNV ENSG00000112182:ENST00000343122:exon7:c.C2295T:p.N765N,ENSG00000112182:ENST00000537989:exon7:c.C2295T:p.N765N,ENSG00000112182:ENST00000257749:exon9:c.C2295T:p.N765N NA NA 6q15 NA NA NA NA rs3798789 0.1 0.1 0.122 0.103435 0.1074 0.0704 0.0692 0.152 0.092 0.1 0.06 0.07 0.18 0.111 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385634 NA NA 0.119651 0.134589 NA 0.203 NA 5.3286156 1119 X 140993877 140993877 C A exonic MAGEC1 NA synonymous SNV MAGEC1:NM_005462:exon4:c.C687A:p.A229A exonic ENSG00000155495 NA synonymous SNV ENSG00000155495:ENST00000285879:exon4:c.C687A:p.A229A NA NA Xq27.2 NA NA NA NA rs176039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3381 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551401 NA NA NA NA NA 0.116 NA 5.3285666 1119 5 43496299 43496299 A G intronic C5orf34 NA NA NA ncRNA_exonic ENSG00000249855 NA NA NA Score=860;Name=lod=4171 NA 5p12 NA NA NA NA rs190278336 0.0018 0.0018 NA 0.00359425 0.005 NA 0.0029 0.0015 0.0092 0.004 NA NA 0.002 NA 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265142 NA NA NA NA NA NA NA 5.3283333 1119 19 10692129 10692129 G A intronic AP1M2 NA NA NA intronic ENSG00000129354 NA NA NA NA NA 19p13.2 NA Name=Pol2 Name=3 NA rs2304160 0.36 0.36 0.3 0.372604 0.1779 0.6627 0.5115 0.2557 0.3333 0.17 0.67 0.45 0.24 0.2925 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.932681 NA NA 0.201273 0.222821 ID=COSN165724;OCCURENCE=1(breast) 0.239 NA 5.328327 1119 17 10398028 10398028 C T intronic MYH1 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA NA NA NA NA 0.00239617 0.002 NA 0.0029 NA 0.0082 NA NA NA NA 0.0032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.028206 NA NA NA NA NA NA NA 5.3281333 1119 2 202671381 202671381 C G UTR5 CDK15 NM_001261436:c.-7C>G,NM_001261435:c.-7C>G NA NA UTR5 ENSG00000138395 ENST00000450471:c.-7C>G,ENST00000434439:c.-7C>G NA NA NA NA 2q33.1 NA Name=KAP1 Name=79 NA rs2192672 0.37 0.37 0.382 0.403155 0.3211 0.4097 0.2176 0.5121 0.4652 0.33 0.4 0.21 0.5 0.3909 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.892807 1.892807 NA 0.293571 0.478261 NA 0.413 NA 5.3277624 1119 19 4325433 4325433 G A exonic STAP2 NA synonymous SNV STAP2:NM_001013841:exon10:c.C939T:p.P313P,STAP2:NM_017720:exon10:c.C939T:p.P313P exonic ENSG00000178078 NA synonymous SNV ENSG00000178078:ENST00000594605:exon10:c.C939T:p.P313P,ENSG00000178078:ENST00000600324:exon10:c.C939T:p.P313P Score=381;Name=lod=47 NA 19p13.3 NA NA NA NA rs1138253 0.52 0.52 0.502 0.519968 0.4294 0.6339 0.4957 0.5764 0.4366 0.41 0.65 0.48 0.58 0.4613 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12241 NA NA 0.448256 0.552882 NA 0.558 NA 5.3277106 1119 10 27629746 27629746 G C intergenic LRRC37A6P,PTCHD3 dist=88511;dist=57371 NA NA ncRNA_exonic ENSG00000215409 NA NA NA Score=321;Name=lod=27 NA 10p12.1 NA Name=USF-1 NA NA rs237596 0.7 0.7 0.694 0.716853 0.673 0.5635 0.7478 0.9281 0.6125 0.65 0.57 0.71 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320707 NA NA NA NA NA 0.761 NA 5.327 1119 20 17595329 17595329 G A intronic RRBP1 NA NA NA intronic ENSG00000125844 NA NA NA NA NA 20p12.1 NA Name=Pol2,HA-E2F1,ZNF263 Name=68 NA rs7261001 0.42 0.42 0.386 0.36881 0.673 0.255 0.5576 0.034 0.4918 0.68 0.26 0.6 0.06 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630002 NA NA NA NA NA 0.457 NA 5.327 1119 11 116720021 116720021 G C intronic SIK3 NA NA NA ncRNA_intronic ENSG00000235910 NA NA NA Score=265;Name=lod=16 NA 11q23.3 NA NA NA NA rs113661446 0.02 0.02 0.013 0.01877 NA NA 0.013 0.0643 NA NA NA 0.01 0.06 0.0063 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71462 NA NA 0.000349 0.069968 NA 0.036 NA 5.3266843 1119 17 56272390 56272390 A G exonic EPX NA synonymous SNV EPX:NM_000502:exon6:c.A660G:p.R220R exonic ENSG00000121053 NA synonymous SNV ENSG00000121053:ENST00000225371:exon6:c.A660G:p.R220R NA NA 17q22 Score=831;Name=V$GR_Q6 NA NA NA rs2240815 0.46 0.46 0.47 0.501398 0.4354 0.244 0.2968 0.8495 0.5092 0.44 0.24 0.31 0.86 0.4639 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672353 NA NA 0.441279 0.778484 NA 0.464 NA 5.3260876 1119 13 111109618 111109618 G C intronic COL4A2 NA NA NA ncRNA_exonic ENSG00000224821 NA NA NA NA NA 13q34 NA NA NA NA rs9515216 0.48 0.48 0.48 NA NA NA NA NA NA 0.57 0.23 0.54 0.61 0.0074 0.61 0.4 T . . . . . . 1.000 P . . . . -0.935 T 0.000 T 0.043 -1.06 0.183 -1.23 -0.703 0.030 5.772 -1.060077 NA 0 NA NA NA NA NA 5.3259333 1119 19 20959119 20959119 T G intergenic ZNF626,ZNF85 dist=114717;dist=146940 NA NA UTR5 ENSG00000160229 ENST00000360204:c.-16262T>G,ENST00000594534:c.-135T>G NA NA NA NA 19p12 NA Name=IRF3,NFKB,HEY1,TBP,RFX5_(N-494),GATA-2,Pol2-4H8,c-Fos,Sin3Ak-20,ELF1_(SC-631),NF-YB,CHD2_(N-1250),NF-YA,SP2_(SC-643),TAF1,GABP,Pol2,SP1,GATA3_(SC-268),TAF7_(SQ-8) Name=140 NA rs8106412 0.53 0.53 0.481 0.526957 0.508 0.5704 0.4582 0.5287 0.5481 0.53 0.59 0.48 0.5 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049247 NA NA NA NA NA 0.478 NA 5.3253334 1119 3 52830764 52830764 C T exonic ITIH3 NA synonymous SNV ITIH3:NM_002217:exon4:c.C291T:p.D97D exonic ENSG00000162267 NA synonymous SNV ENSG00000162267:ENST00000416872:exon4:c.C291T:p.D97D,ENSG00000162267:ENST00000449956:exon4:c.C291T:p.D97D NA NA 3p21.1 NA NA NA NA rs2240921 0.14 0.14 0.149 0.16873 0.1044 0.0407 0.1427 0.3631 0.1227 0.11 0.03 0.17 0.29 0.1246 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.557726 NA NA 0.112456 0.259883 ID=COSM149402;OCCURENCE=1(stomach) 0.268 NA 5.3252106 1120 19 41812506 41812506 G A UTR3 HNRNPUL1 NM_144732:c.*36G>A,NM_007040:c.*36G>A NA NA UTR3 ENSG00000105323 ENST00000352456:c.*36G>A,ENST00000595018:c.*36G>A,ENST00000392006:c.*36G>A,ENST00000378215:c.*36G>A,ENST00000595196:c.*2183G>A,ENST00000602130:c.*36G>A,ENST00000593587:c.*36G>A,ENST00000263367:c.*36G>A,ENST00000599614:c.*36G>A NA NA Score=407;Name=lod=60 NA 19q13.2 NA NA NA NA rs200198044 0.0009 0.0009 NA 0.000798722 0.003 NA NA NA 0.001 0.0026 NA NA NA 0.0029 0.0027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.917091 3.917091 NA 0.00273 0.000694 NA NA NA 5.3247034 1120 9 127566378 127566378 A G exonic OLFML2A NA nonsynonymous SNV OLFML2A:NM_182487:exon6:c.A925G:p.T309A exonic ENSG00000185585 NA nonsynonymous SNV ENSG00000185585:ENST00000288815:exon3:c.A283G:p.T95A,ENSG00000185585:ENST00000331715:exon5:c.A817G:p.T273A,ENSG00000185585:ENST00000373580:exon6:c.A925G:p.T309A NA NA 9q33.3 NA NA NA NA rs7874348 0.78 0.78 0.758 0.819888 0.6183 0.8968 0.7968 0.8775 0.8865 0.62 0.89 0.79 0.87 0.731 0.89 0.79 T 0.0 B 0.002 B 0.130 N 1.000 P -0.145 N 0.89 T -0.997 T 0.000 T 0.017 -0.784 0.719 0.46 0.015 -0.506 7.665 -0.78442 NA 0.65 0.659419 0.862006 NA 0.783 NA 5.3246144 1120 16 89865332 89865332 C T UTR3 FANCA NM_001018112:c.*155G>A NA NA UTR3 ENSG00000187741 ENST00000389302:c.*155G>A,ENST00000563673:c.*184G>A,ENST00000534992:c.*134G>A,ENST00000543736:c.*155G>A NA NA NA NA 16q24.3 NA NA Name=16 NA rs45446001 0.0046 0.0046 0.002 0.00638978 0.0089 NA 0.0072 0.0008 0.0174 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029674 NA NA NA NA NA NA NA 5.3244334 1120 7 23851086 23851086 T C intronic STK31 NA NA NA ncRNA_exonic ENSG00000231328 NA NA NA Score=235;Name=lod=12 NA 7p15.3 NA NA NA NA rs140141019 0.0032 0.0032 0.001 0.00359425 0.0089 NA 0.0029 NA 0.0072 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064348 NA NA NA NA NA NA NA 5.3244333 1120 16 15083120 15083120 G A intronic PDXDC1 NA NA NA ncRNA_exonic ENSG00000261819 NA NA NA Score=538;Name=lod=205 NA 16p13.11 NA NA NA NA rs199901079 NA NA NA 0.00199681 0.0089 NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.083419 2.083419 0.14 NA NA NA NA NA 5.3244333 1120 19 44612005 44612005 A G exonic ZNF224 NA synonymous SNV ZNF224:NM_013398:exon6:c.A1692G:p.G564G exonic ENSG00000267680 NA synonymous SNV ENSG00000267680:ENST00000336976:exon6:c.A1692G:p.G564G Score=363;Name=lod=40 NA 19q13.31 NA Name=SETDB1 NA NA rs3746321 0.62 0.62 0.591 0.584864 0.8131 0.5357 0.5144 0.4085 0.6892 0.8 0.54 0.59 0.44 0.7105 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.217853 2.217853 NA 0.818721 0.455515 NA 0.674 NA 5.3243456 1120 18 11609904 11609904 A G intergenic PIEZO2,GNAL dist=461143;dist=79110 NA NA ncRNA_exonic ENSG00000236396 NA NA NA Score=536;Name=lod=202 NA 18p11.21 NA NA NA NA rs8087447 0.76 0.76 0.84 0.889776 0.8221 0.8968 0.8818 0.9327 0.8998 0.68 0.81 0.8 0.82 0.8537 0.82 0.33 T . . . . . . 1.000 P -0.695 N . . -1.000 T 0.000 T . -1.681 0.012 . -1.986 -3.105 . -1.681013 NA NA NA NA NA 0.058 NA 5.3242 1120 1 205035455 205035455 A G intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA Name=CTCF,Rad21,CTCF_(SC-5916) Name=9 NA rs16937 0.58 0.58 0.56 0.582867 0.6759 0.5774 0.6196 0.4501 0.6462 0.68 0.56 0.6 0.46 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97038 NA NA NA NA NA 0.623 NA 5.3241 1120 19 44098903 44098903 T A intronic IRGQ NA NA NA intronic ENSG00000167378 NA NA NA NA NA 19q13.31 NA Name=ZEB1_(SC-25388),CTCF_(C-20),CTCF_(SC-5916),RFX5_(N-494),ELF1_(SC-631),Rad21,CTCF,TAF1,SMC3_(ab9263),YY1_(C-20),BCLAF1_(M33-P5B11) Name=137 NA rs304726 0.7 0.7 0.708 0.6877 0.6759 0.6171 0.7709 0.7693 0.6033 0.67 0.62 0.77 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28016 NA NA NA NA NA 0.725 NA 5.3241 1120 5 179529124 179529124 G A exonic RASGEF1C NA synonymous SNV RASGEF1C:NM_175062:exon13:c.C1323T:p.Y441Y exonic ENSG00000146090 NA synonymous SNV ENSG00000146090:ENST00000522500:exon10:c.C870T:p.Y290Y,ENSG00000146090:ENST00000393371:exon12:c.C1323T:p.Y441Y,ENSG00000146090:ENST00000361132:exon13:c.C1323T:p.Y441Y Score=593;Name=lod=342 NA 5q35.3 Score=824;Name=V$IRF2_01 NA NA NA rs7725201 0.78 0.78 0.795 0.826078 0.7684 0.7966 0.7882 0.8139 0.9591 0.77 0.76 0.76 0.82 0.7945 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548944 NA NA 0.779767 0.794825 NA 0.804 NA 5.3239996 1120 10 90984990 90984990 G A intronic LIPA NA NA NA intronic ENSG00000107798 NA NA NA NA NA 10q23.31 NA Name=CTCF Name=41 NA rs2297472 0.35 0.35 0.309 0.31889 0.2018 0.7004 0.3674 0.0976 0.3108 0.22 0.74 0.32 0.1 0.2781 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628426 NA NA 0.196163 0.104176 NA 0.203 NA 5.323937 1120 5 112770027 112770027 T G exonic TSSK1B NA synonymous SNV TSSK1B:NM_032028:exon1:c.A510C:p.A170A exonic ENSG00000212122 NA synonymous SNV ENSG00000212122:ENST00000390666:exon1:c.A510C:p.A170A NA NA 5q22.2 NA NA NA NA rs26980 0.07 0.07 0.061 0.0513179 0.1243 0.0288 0.0317 0.0204 0.0552 0.14 0.04 0.02 0.03 0.0997 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105182 NA NA 0.118837 0.034514 NA 0.138 NA 5.3238296 1120 3 72821690 72821690 C G intronic SHQ1 NA NA NA ncRNA_exonic ENSG00000241537 NA NA NA Score=615;Name=lod=423 NA 3p13 NA NA NA NA rs148652264 0.01 0.01 0.005 0.00499201 0.0099 NA 0.0115 NA 0.0072 0.01 NA 0.02 NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079881 NA NA NA NA NA 0.029 NA 5.3234333 1120 22 42524795 42524795 A G exonic CYP2D6 NA synonymous SNV CYP2D6:NM_001025161:exon3:c.T504C:p.F168F,CYP2D6:NM_000106:exon4:c.T657C:p.F219F exonic ENSG00000100197 NA synonymous SNV ENSG00000100197:ENST00000360124:exon2:c.T324C:p.F108F,ENSG00000100197:ENST00000359033:exon3:c.T504C:p.F168F,ENSG00000100197:ENST00000360608:exon4:c.T657C:p.F219F,ENSG00000100197:ENST00000389970:exon5:c.T657C:p.F219F NA NA 22q13.2 NA NA NA NA rs28371713 NA NA 0.154 NA NA NA NA NA NA NA NA NA NA 0.3434 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000268 NA NA NA NA ID=COSM1632628,COSM1632629;OCCURENCE=1(liver) NA NA 5.3232666 1120 19 10738639 10738639 C T exonic SLC44A2 NA synonymous SNV SLC44A2:NM_001145056:exon4:c.C198T:p.D66D,SLC44A2:NM_020428:exon4:c.C204T:p.D68D exonic ENSG00000129353 NA synonymous SNV ENSG00000129353:ENST00000335757:exon4:c.C204T:p.D68D,ENSG00000129353:ENST00000407327:exon4:c.C198T:p.D66D,ENSG00000129353:ENST00000586078:exon4:c.C204T:p.D68D,ENSG00000129353:ENST00000588409:exon4:c.C204T:p.D68D Score=369;Name=lod=42 NA 19p13.2 Score=742;Name=V$SEF1_C NA NA NA rs3087969 0.76 0.76 0.765 0.786542 0.7644 0.7103 0.8415 0.8593 0.7505 0.77 0.65 0.81 0.86 0.7932 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841027 NA NA 0.785814 0.84158 NA 0.768 NA 5.3232526 1120 12 89917037 89917037 G A exonic GALNT4,POC1B-GALNT4 NA synonymous SNV GALNT4:NM_003774:exon1:c.C1290T:p.N430N,POC1B-GALNT4:NM_001199781:exon3:c.C1281T:p.N427N,POC1B-GALNT4:NM_001199782:exon3:c.C774T:p.N258N exonic ENSG00000257594,ENSG00000259075 NA synonymous SNV ENSG00000257594:ENST00000529983:exon1:c.C1290T:p.N430N,ENSG00000259075:ENST00000413530:exon3:c.C774T:p.N258N,ENSG00000259075:ENST00000548729:exon3:c.C1281T:p.N427N NA NA 12q21.33 NA NA NA NA rs2230282 0.07 0.07 0.057 0.0714856 0.1282 0.0228 0.0821 0.0408 0.0971 0.13 0.01 0.09 0.02 0.1027 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363365 NA NA 0.112793 0.046196 NA 0.072 NA 5.3229736 1120 17 39261949 39261949 T C exonic KRTAP4-9 NA synonymous SNV KRTAP4-9:NM_001146041:exon1:c.T309C:p.T103T exonic ENSG00000212722 NA synonymous SNV ENSG00000212722:ENST00000391415:exon1:c.T309C:p.T103T NA NA 17q21.2 NA NA Name=3 NA rs7212474 NA NA 0.641 0.664736 0.6869 0.4038 0.6441 0.9486 0.5419 NA NA NA NA 0.6569 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636117 NA NA NA NA NA NA NA 5.3228666 1120 3 45636335 45636335 A G UTR5 LIMD1 NM_014240:c.-37A>G NA NA UTR5 ENSG00000144791 ENST00000440097:c.-37A>G NA NA NA NA 3p21.31 NA Name=ZEB1_(SC-25388),GABP Name=8 NA rs267238 0.52 0.52 0.418 0.508786 0.502 0.6538 0.5591 0.2799 0.6401 0.5 0.69 0.58 0.3 0.0032 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187953 NA NA 0.505814 0.30654 NA 0.167 NA 5.3223194 1120 20 33581955 33581955 G A exonic MYH7B NA synonymous SNV MYH7B:NM_020884:exon27:c.G2577A:p.A859A exonic ENSG00000078814 NA synonymous SNV ENSG00000078814:ENST00000262873:exon25:c.G2577A:p.A859A Score=538;Name=lod=204 NA 20q11.22 NA NA NA NA rs2425012 0.44 0.44 0.417 0.396765 0.4861 0.5546 0.621 0.171 0.2883 0.47 0.56 0.55 0.17 0.4325 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469957 NA NA 0.425835 0.216737 NA 0.283 NA 5.3222316 1120 7 48313949 48313949 C T exonic ABCA13 NA synonymous SNV ABCA13:NM_152701:exon17:c.C4686T:p.Y1562Y exonic ENSG00000179869 NA synonymous SNV ENSG00000179869:ENST00000435803:exon17:c.C4686T:p.Y1562Y NA NA 7p12.3 NA NA NA NA rs6583483 0.13 0.13 0.11 0.126597 0.1074 0.1518 0.17 0.0522 0.1902 0.11 0.18 0.16 0.06 0.1287 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454894 NA NA 0.108813 0.060867 NA 0.109 NA 5.3217536 1120 14 76662370 76662370 T C intronic GPATCH2L NA NA NA exonic ENSG00000089916 NA synonymous SNV ENSG00000089916:ENST00000553588:exon2:c.T205C:p.L69L NA NA 14q24.3 NA NA Name=2 NA rs17104243 0.21 0.21 0.201 0.208067 0.16 0.1012 0.2334 0.3949 0.0971 0.17 0.1 0.19 0.4 0.1905 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00303 NA NA 0.161534 0.367775 NA 0.196 NA 5.3212993 1120 19 10694239 10694239 A G intronic AP1M2 NA NA NA intronic ENSG00000129354 NA NA NA NA NA 19p13.2 NA Name=NF-YA,Pbx3 Name=15 NA rs11085739 0.37 0.37 0.303 0.373003 0.1789 0.6627 0.5115 0.2557 0.3344 0.17 0.67 0.45 0.24 0.2944 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016737 NA NA 0.205456 0.22055 NA 0.239 NA 5.321244 1120 19 10694244 10694244 C T intronic AP1M2 NA NA NA intronic ENSG00000129354 NA NA NA NA NA 19p13.2 NA Name=Pbx3,NF-YA Name=15 NA rs11085740 0.37 0.37 0.32 0.373003 0.1789 0.6627 0.5115 0.2557 0.3344 0.17 0.67 0.45 0.24 0.2947 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41532 NA NA 0.205428 0.225 NA 0.239 NA 5.320972 1120 1 201489286 201489286 C G ncRNA_exonic RPS10P7 NA NA NA ncRNA_exonic ENSG00000223396,ENSG00000242150 NA NA NA Score=746;Name=lod=1439 NA 1q32.1 NA NA NA NA rs4310467 0.2 0.2 0.177 0.14976 0.3459 0.0873 0.1916 0.034 0.1391 0.36 0.08 0.25 0.03 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43257 NA NA NA NA NA 0.275 NA 5.3207666 1120 3 195426148 195426148 T C upstream MIR570 NA NA NA ncRNA_intronic ENSG00000242086 NA NA NA NA NA 3q29 NA Name=eGFP-JunD Name=31 NA rs4997079 0.62 0.62 0.54 0.763778 0.8459 0.6716 0.6873 0.8608 0.6973 0.71 0.49 0.59 0.66 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582161 NA NA NA NA NA 0.007 NA 5.3207666 1120 19 15882884 15882884 C T ncRNA_exonic CYP4F24P NA NA NA ncRNA_exonic ENSG00000267594 NA NA NA Score=545;Name=lod=219 NA 19p13.12 NA NA NA NA rs3752144 0.14 0.14 0.107 0.15655 0.164 0.122 0.1095 0.1513 0.2249 0.16 0.13 0.09 0.14 0.182 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79749 NA NA NA NA NA 0.181 NA 5.3206666 1120 8 22863299 22863299 C T intronic RHOBTB2 NA NA NA ncRNA_intronic ENSG00000245025 NA NA NA Score=272;Name=lod=17 NA 8p21.3 NA NA NA NA rs117230144 0.02 0.02 0.011 0.01877 0.0129 NA 0.1095 0.0015 0.0031 0.02 NA 0.1 0.0041 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.862174 1.862174 NA NA NA NA NA NA 5.3204333 1120 19 15881909 15881909 A G ncRNA_exonic CYP4F24P NA NA NA ncRNA_exonic ENSG00000267594 NA NA NA Score=363;Name=lod=40 NA 19p13.12 NA NA NA NA rs4807985 0.15 0.15 0.134 0.15655 0.164 0.122 0.1095 0.152 0.2239 0.16 0.14 0.1 0.16 0.1823 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.348448 NA NA NA NA NA 0.181 NA 5.3203666 1120 X 52891653 52891653 C T exonic XAGE3 NA synonymous SNV XAGE3:NM_130776:exon5:c.G330A:p.Q110Q,XAGE3:NM_133179:exon5:c.G330A:p.Q110Q exonic ENSG00000171402 NA synonymous SNV ENSG00000171402:ENST00000346279:exon5:c.G330A:p.Q110Q,ENSG00000171402:ENST00000375491:exon5:c.G330A:p.Q110Q NA NA Xp11.22 NA NA NA NA rs73206488 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3463 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.175087 NA NA NA NA ID=COSM287951;OCCURENCE=1(large_intestine) 0.014 NA 5.3203666 1120 17 48017030 48017030 T C intergenic FLJ45513,DLX4 dist=90831;dist=29532 NA NA ncRNA_exonic ENSG00000249176 NA NA NA Score=633;Name=lod=499 NA 17q21.33 NA Name=HNF4A,HNF4G_(SC-6558) NA NA rs271659 0.52 0.52 0.532 0.506589 0.6799 0.247 0.4164 0.6354 0.4857 0.69 0.28 0.49 0.59 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743714 NA NA NA NA ID=COSN165460;OCCURENCE=1(NS) 0.558 NA 5.3201 1120 17 25753502 25753502 C T ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA Score=536;Name=lod=202 NA 17q11.1 NA NA NA NA rs35094692 0.32 0.32 0.301 0.321286 0.3469 0.3145 0.4078 0.2171 0.3814 0.34 0.31 0.42 0.22 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317182 NA NA NA NA NA 0.254 NA 5.3197666 1120 7 36455477 36455477 T C exonic ANLN NA synonymous SNV ANLN:NM_018685:exon8:c.T1506C:p.S502S exonic ENSG00000011426 NA synonymous SNV ENSG00000011426:ENST00000265748:exon8:c.T1506C:p.S502S,ENSG00000011426:ENST00000396068:exon8:c.T1506C:p.S502S NA NA 7p14.2 NA NA NA NA rs10224902 0.12 0.12 0.108 0.132788 0.1004 0.1895 0.1729 0.0915 0.135 0.11 0.17 0.14 0.09 0.131 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216166 NA NA 0.115581 0.103495 NA 0.167 NA 5.3196856 1120 21 47685939 47685939 A G exonic MCM3AP NA synonymous SNV MCM3AP:NM_003906:exon11:c.T2931C:p.H977H exonic ENSG00000160294 NA synonymous SNV ENSG00000160294:ENST00000291688:exon11:c.T2931C:p.H977H,ENSG00000160294:ENST00000397708:exon12:c.T2931C:p.H977H NA NA 21q22.3 Score=916;Name=V$AREB6_01 NA NA NA rs2839181 0.41 0.41 0.385 0.421725 0.4344 0.2788 0.5274 0.4879 0.3916 0.43 0.26 0.52 0.47 0.4515 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.11953 NA NA 0.461279 0.498865 ID=COSM444627;OCCURENCE=1(breast) 0.304 NA 5.3194876 1120 20 1301000 1301000 G A ncRNA_intronic FKBP1A-SDCBP2 NA NA NA intronic ENSG00000125775 NA NA NA NA NA 20p13 Score=924;Name=V$AREB6_01 NA NA NA rs138479611 0.0032 0.0032 0.003 0.00139776 0.005 0.001 0.0014 NA NA 0.01 NA 0.01 NA 0.0038 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368469 NA NA 0.005096 0.000523 NA NA NA 5.3194373 1120 1 160580445 160580445 C T UTR3 SLAMF1 NM_003037:c.*93G>A NA NA UTR3 ENSG00000117090 ENST00000302035:c.*93G>A,ENST00000235739:c.*93G>A NA NA NA NA 1q23.3 NA Name=Pol2-4H8 NA NA rs41266921 0.01 0.01 0.006 0.0123802 0.0139 0.0228 0.0072 NA 0.0204 0.01 0.02 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316724 NA NA NA NA NA NA NA 5.3194334 1120 17 76154288 76154288 G A intronic C17orf99 NA NA NA ncRNA_intronic ENSG00000267679 NA NA NA Score=521;Name=lod=175 NA 17q25.3 NA NA NA NA rs140259041 0.01 0.01 0.009 0.00638978 0.0139 NA 0.013 0.0008 0.0082 0.01 NA 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.470703 1.470703 NA NA NA NA 0.007 NA 5.3194333 1120 10 5762740 5762740 A G intronic FAM208B NA NA NA ncRNA_intronic ENSG00000226647 NA NA NA Score=371;Name=lod=43 NA 10p15.1 NA NA NA NA rs200240206 0.0009 0.0009 NA 0.00299521 0.006 NA 0.0014 NA 0.0082 0.0026 NA NA NA 0.0037 0.0047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063567 NA NA 0.004665 0.001382 NA NA NA 5.3189683 1120 4 25370627 25370627 A G intronic ZCCHC4 NA NA NA intronic ENSG00000168228 NA NA NA Score=571;Name=lod=278 NA 4p15.2 Score=793;Name=V$POU3F2_01 NA NA NA rs315690 0.31 0.31 0.328 0.323882 0.2187 0.2847 0.2421 0.5378 0.2413 0.22 0.28 0.25 0.5 0.2454 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.687474 3.687474 NA 0.2172 0.485286 NA 0.21 NA 5.3187 1120 12 102559708 102559708 A C intronic PARPBP NA NA NA intronic ENSG00000185480 NA NA NA Score=265;Name=lod=16 NA 12q23.2 Score=892;Name=V$TATA_C NA NA NA rs3794201 0.28 0.28 0.286 0.25619 0.2157 0.4196 0.2464 0.2141 0.1933 0.22 0.45 0.22 0.25 0.2471 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488662 1.488662 NA 0.218662 0.224661 NA 0.159 NA 5.318538 1120 3 134670524 134670524 C T exonic EPHB1 NA synonymous SNV EPHB1:NM_004441:exon3:c.C435T:p.S145S exonic ENSG00000154928 NA synonymous SNV ENSG00000154928:ENST00000398015:exon3:c.C435T:p.S145S,ENSG00000154928:ENST00000474732:exon3:c.C369T:p.S123S,ENSG00000154928:ENST00000482618:exon3:c.C435T:p.S145S Score=762;Name=lod=1672 NA 3q22.2 NA NA NA NA rs7644369 0.43 0.43 0.408 0.48143 0.4394 0.2123 0.5692 0.6377 0.5286 0.44 0.15 0.59 0.63 0.4628 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695007 NA NA 0.446518 0.575873 NA 0.529 NA 5.3179486 1120 19 8399272 8399272 G A exonic KANK3 NA synonymous SNV KANK3:NM_198471:exon4:c.C1359T:p.D453D exonic ENSG00000186994 NA synonymous SNV ENSG00000186994:ENST00000595639:exon3:c.C66T:p.D22D,ENSG00000186994:ENST00000330915:exon4:c.C1359T:p.D453D,ENSG00000186994:ENST00000593649:exon4:c.C1359T:p.D453D NA NA 19p13.2 NA NA NA NA rs8106699 0.12 0.12 0.115 0.129792 0.1153 0.0327 0.1239 0.2413 0.0982 0.11 0.03 0.14 0.23 0.1204 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205614 NA NA 0.11305 0.209487 NA 0.13 NA 5.3179166 1120 1 23954528 23954528 T C ncRNA_intronic MDS2 NA NA NA intronic ENSG00000197880 NA NA NA NA NA 1p36.11 NA Name=CEBPB NA NA rs2683058 0.14 0.14 NA NA NA NA NA NA NA 0.19 0.04 0.1 0.22 0.0155 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193832 NA NA NA NA NA 0.174 NA 5.3178333 1120 12 46298877 46298877 A C UTR3 ARID2 NM_152641:c.*16A>C NA NA UTR3 ENSG00000189079 ENST00000334344:c.*16A>C,ENST00000444670:c.*16A>C,ENST00000457135:c.*199A>C NA NA Score=764;Name=lod=1696 NA 12q12 NA NA NA NA rs183623382 0.0032 0.0032 NA 0.00259585 0.008 NA 0.0029 0.0008 0.002 0.01 NA NA NA 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285656 NA NA 0.004186 0.000681 NA NA NA 5.3177474 1120 13 100803321 100803321 A G intronic PCCA NA NA NA ncRNA_exonic ENSG00000228501 NA NA NA Score=784;Name=lod=2042 NA 13q32.3 NA NA NA NA rs150333900 0.01 0.01 0.01 0.00878594 0.0159 0.001 0.0245 0.0008 0.0092 0.01 NA 0.03 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783093 NA NA NA NA NA 0.014 NA 5.3174333 1120 9 35079361 35079361 G T intronic FANCG NA NA NA intronic ENSG00000221829 NA NA NA NA NA 9p13.3 NA Name=ZNF263 Name=12 NA rs504082 0.43 0.43 0.374 0.407548 0.6829 0.0804 0.7032 0.2103 0.5184 0.69 0.09 0.69 0.23 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675701 NA NA NA NA NA 0.471 NA 5.3171 1120 1 94344716 94344716 C T UTR5 DNTTIP2 NM_014597:c.-12G>A NA NA UTR5 ENSG00000067334 ENST00000436063:c.-12G>A,ENST00000359208:c.-12G>A,ENST00000528680:c.-12G>A NA NA NA NA 1p22.1 NA Name=E2F6_(H-50),ETS1,Pol2(b),TAF1,ZBTB33,GABP,ELK4,TCF4,YY1,STAT3,NRSF,ATF3,PU.1,Mxi1_(bHLH),Pol2,Pol2-4H8,E2F6,MEF2A,GATA3_(SC-268),Sin3Ak-20,BRCA1_(C-1863),YY1_(C-20),HA-E2F1,NFKB,HEY1,ZEB1_(SC-25388),AP-2gamma,ELF1_(SC-631),c-Myc,CCNT2,Max,ZBTB7A_(SC-34508),SIX5,GRp20,SRF,Nrf1,GTF2B,CHD2_(N-1250),GTF2F1_(RAP-74),IRF1,TBP Name=147 NA rs2235971 0.34 0.34 0.308 0.348243 0.325 0.5565 0.3329 0.093 0.5133 0.33 0.57 0.34 0.1 0.3577 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5975 1.5975 NA 0.333777 0.145478 NA 0.391 NA 5.3168564 1120 17 60918602 60918602 T A ncRNA_intronic MIR548W NA NA NA ncRNA_exonic ENSG00000264907 NA NA NA Score=543;Name=lod=215 NA 17q23.2 NA NA NA NA rs12943672 0.39 0.39 0.396 0.38738 0.3499 0.3492 0.3703 0.5008 0.3241 0.37 0.36 0.36 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29367 NA NA NA NA NA 0.377 NA 5.3167666 1120 8 124658210 124658210 C T exonic KLHL38 NA synonymous SNV KLHL38:NM_001081675:exon3:c.G1515A:p.A505A exonic ENSG00000175946 NA synonymous SNV ENSG00000175946:ENST00000325995:exon3:c.G1515A:p.A505A NA NA 8q24.13 NA NA NA NA rs16898671 0.14 0.14 0.149 0.160743 0.1014 0.1637 0.0821 0.2133 0.2035 0.11 0.18 0.07 0.2 0.1305 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691382 NA NA 0.118203 0.191774 NA 0.188 NA 5.3165636 1120 20 50405502 50405502 C G exonic SALL4 NA synonymous SNV SALL4:NM_020436:exon3:c.G2640C:p.S880S exonic ENSG00000101115 NA synonymous SNV ENSG00000101115:ENST00000371539:exon2:c.G309C:p.S103S,ENSG00000101115:ENST00000217086:exon3:c.G2640C:p.S880S,ENSG00000101115:ENST00000395997:exon3:c.G1329C:p.S443S NA NA 20q13.2 NA NA NA NA rs17802735 0.06 0.06 0.055 0.0497204 0.1272 0.001 0.0735 0.003 0.0665 0.13 0.0017 0.08 0.002 0.0897 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434363 NA NA 0.133256 0.028143 NA 0.007 NA 5.3165106 1120 2 70162534 70162534 T G exonic MXD1 NA synonymous SNV MXD1:NM_001202514:exon3:c.T225G:p.L75L,MXD1:NM_001202513:exon4:c.T255G:p.L85L,MXD1:NM_002357:exon4:c.T255G:p.L85L exonic ENSG00000059728 NA synonymous SNV ENSG00000059728:ENST00000409442:exon3:c.T129G:p.L43L,ENSG00000059728:ENST00000540449:exon3:c.T225G:p.L75L,ENSG00000059728:ENST00000264444:exon4:c.T255G:p.L85L,ENSG00000059728:ENST00000435990:exon6:c.T159G:p.L53L Score=467;Name=lod=105 NA 2p13.3 NA NA NA NA rs2228183 0.55 0.55 0.578 0.583866 0.4443 0.5407 0.4035 0.8502 0.5399 0.44 0.54 0.39 0.84 0.4799 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376306 1.376306 NA 0.426628 0.78325 NA 0.565 NA 5.3158386 1120 22 47087670 47087670 G A exonic CERK NA synonymous SNV CERK:NM_022766:exon11:c.C1131T:p.D377D exonic ENSG00000100422 NA synonymous SNV ENSG00000100422:ENST00000541677:exon10:c.C537T:p.D179D,ENSG00000100422:ENST00000216264:exon11:c.C1131T:p.D377D NA NA 22q13.31 NA NA NA NA rs36211083 0.1 0.1 0.08 0.10024 0.1123 0.001 0.2003 0.1263 0.0838 0.12 0.0017 0.22 0.1 0.1186 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247825 NA NA 0.120116 0.124603 NA 0.094 NA 5.3156506 1120 13 42500924 42500924 C T intronic VWA8 NA NA NA ncRNA_exonic ENSG00000229696 NA NA NA Score=714;Name=lod=1060 NA 13q14.11 NA NA NA NA rs75477528 0.01 0.01 0.009 0.0145767 0.0179 0.004 0.0101 0.0083 0.0337 0.02 0.0017 0.01 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425362 NA NA NA NA NA 0.007 NA 5.3154333 1120 1 160854526 160854526 G A intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA NA 1q23.3 NA Name=SMC3_(ab9263),JunD,CTCF,Rad21,ELF1_(SC-631) Name=16 NA rs2297559 0.68 0.68 0.668 0.669728 0.6849 0.7371 0.7277 0.5492 0.7065 0.68 0.75 0.71 0.58 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068345 NA NA NA NA NA 0.667 NA 5.3151 1120 3 195477791 195477791 G A exonic MUC4 NA synonymous SNV MUC4:NM_138297:exon21:c.C2979T:p.I993I,MUC4:NM_004532:exon22:c.C3132T:p.I1044I,MUC4:NM_018406:exon23:c.C15840T:p.I5280I exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000349607:exon21:c.C2979T:p.I993I,ENSG00000145113:ENST00000346145:exon22:c.C3132T:p.I1044I,ENSG00000145113:ENST00000475231:exon22:c.C15684T:p.I5228I,ENSG00000145113:ENST00000463781:exon23:c.C15840T:p.I5280I NA NA 3q29 Score=958;Name=V$GATA1_01 NA NA NA rs2291652 0.43 0.43 0.382 0.40615 0.4583 0.7679 0.4179 0.0787 0.4141 0.45 0.72 0.4 0.09 0.4432 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.159908 NA NA 0.450116 0.149342 NA 0.304 NA 5.3150506 1121 8 143996553 143996553 G A exonic CYP11B2 NA synonymous SNV CYP11B2:NM_000498:exon3:c.C504T:p.F168F exonic ENSG00000179142 NA synonymous SNV ENSG00000179142:ENST00000323110:exon3:c.C504T:p.F168F Score=321;Name=lod=27 NA 8q24.3 NA NA NA NA rs4546 0.36 0.36 0.298 0.345447 0.4841 0.2867 0.4697 0.1838 0.3937 0.48 0.31 0.43 0.17 0.4189 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939874 NA NA 0.449162 0.231729 ID=COSM1569160;OCCURENCE=1(large_intestine) NA NA 5.3145046 1121 17 55197764 55197764 A C UTR3 AKAP1 NM_003488:c.*79A>C,NM_001242903:c.*79A>C,NM_001242902:c.*79A>C NA NA UTR3 ENSG00000121057 ENST00000337714:c.*79A>C,ENST00000572557:c.*79A>C,ENST00000481416:c.*1112A>C,ENST00000539273:c.*79A>C,ENST00000573326:c.*303A>C NA NA Score=321;Name=lod=27 NA 17q22 NA NA NA NA rs117948788 0.01 0.01 0.006 0.00958466 0.0189 NA 0.0086 NA 0.0235 0.02 NA 0.01 NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.667976 2.667976 NA NA NA NA 0.014 NA 5.3144334 1121 1 53461045 53461045 A G intronic SCP2 NA NA NA ncRNA_exonic ENSG00000226147 NA NA NA Score=855;Name=lod=3987 NA 1p32.3 NA NA NA NA rs17366570 0.01 0.01 0.007 0.00778754 0.0189 NA 0.0245 0.0015 0.001 0.01 NA 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.107579 NA NA NA NA NA NA NA 5.3144333 1121 2 165996107 165996107 T A exonic SCN3A NA synonymous SNV SCN3A:NM_001081676:exon14:c.A1884T:p.T628T,SCN3A:NM_001081677:exon14:c.A1884T:p.T628T,SCN3A:NM_006922:exon14:c.A2031T:p.T677T exonic ENSG00000153253 NA synonymous SNV ENSG00000153253:ENST00000440431:exon13:c.A1884T:p.T628T,ENSG00000153253:ENST00000283254:exon14:c.A2031T:p.T677T,ENSG00000153253:ENST00000360093:exon14:c.A2031T:p.T677T,ENSG00000153253:ENST00000409101:exon14:c.A1884T:p.T628T Score=558;Name=lod=248 NA 2q24.3 NA NA NA NA rs1946892 0.62 0.62 0.614 0.634585 0.4245 0.8165 0.5778 0.7277 0.5777 0.43 0.78 0.61 0.73 0.5068 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.25624 1.25624 NA 0.421163 0.662506 NA 0.587 NA 5.3142036 1121 6 49928116 49928116 G A exonic DEFB114 NA synonymous SNV DEFB114:NM_001037499:exon2:c.C99T:p.Y33Y exonic ENSG00000177684 NA synonymous SNV ENSG00000177684:ENST00000322066:exon2:c.C99T:p.Y33Y NA NA 6p12.3 NA NA NA NA rs17736782 0.07 0.07 0.058 0.0593051 0.1282 0.0079 0.0648 0.0272 0.0808 0.13 0.01 0.08 0.03 0.0959 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573525 NA NA 0.128751 0.047435 NA 0.022 NA 5.3138156 1121 1 33799900 33799900 G A intronic PHC2 NA NA NA intronic ENSG00000134686 NA NA NA NA NA 1p35.1 NA Name=RXRA,TCF4,HDAC2_(SC-6296) Name=71 NA rs12734630 0.17 0.17 0.139 0.171126 0.2346 0.2113 0.17 0.0182 0.272 0.23 0.2 0.17 0.03 0.21 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259764 NA NA 0.241744 0.05084 NA 0.138 NA 5.313656 1121 14 21967438 21967438 G A intronic METTL3 NA NA NA UTR3 ENSG00000165819 ENST00000537163:c.*974C>T,ENST00000543235:c.*794C>T NA NA NA NA 14q11.2 NA Name=Pbx3,EBF,EBF1_(C-8) Name=31 NA rs3168880 0.27 0.27 0.267 0.27476 0.2793 0.2123 0.1758 0.3374 0.32 0.27 0.21 0.19 0.39 0.2793 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489259 NA NA 0.294651 0.307535 NA 0.246 NA 5.3134157 1121 17 3635768 3635768 A C intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA Name=IRF4_(M-17),Rad21,CTCF Name=76 NA rs3744678 0.32 0.32 0.309 0.328674 0.2097 0.1528 0.402 0.671 0.1176 0.2 0.16 0.33 0.66 0.2523 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474672 NA NA 0.225 0.583069 NA 0.413 NA 5.313 1121 4 183959226 183959226 T G ncRNA_exonic FAM92A1P2 NA NA NA ncRNA_exonic ENSG00000230219 NA NA NA Score=566;Name=lod=265 NA 4q35.1 NA NA NA NA rs2016910 0.35 0.35 0.317 0.358626 0.3539 0.3373 0.4207 0.2421 0.499 0.37 0.36 0.36 0.28 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441963 NA NA NA NA NA 0.362 NA 5.3127666 1121 4 187538330 187538330 G A exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon11:c.C8904T:p.A2968A exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon11:c.C8904T:p.A2968A Score=619;Name=lod=439 NA 4q35.2 NA NA NA NA rs1280099 0.43 0.43 0.403 0.416134 0.4662 0.2808 0.4683 0.5424 0.2965 0.45 0.31 0.47 0.51 0.4398 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992758 NA NA 0.448077 0.536672 NA 0.5 NA 5.3125896 1121 16 28549508 28549508 G A exonic NUPR1 NA synonymous SNV NUPR1:NM_001042483:exon2:c.C135T:p.P45P exonic ENSG00000176046 NA synonymous SNV ENSG00000176046:ENST00000395641:exon2:c.C135T:p.P45P NA NA 16p11.2 NA NA NA NA rs151227 0.08 0.08 0.069 0.0794728 0.1223 0.004 0.0994 0.0855 0.091 0.11 0.01 0.12 0.1 0.1002 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421246 NA NA 0.131628 0.088075 NA 0.08 NA 5.3125386 1121 17 45994154 45994154 G A exonic SP2 NA synonymous SNV SP2:NM_003110:exon3:c.G717A:p.P239P exonic ENSG00000167182 NA synonymous SNV ENSG00000167182:ENST00000376741:exon3:c.G717A:p.P239P NA NA 17q21.32 Score=979;Name=V$AP2REP_01 NA NA NA rs2229358 0.51 0.51 0.465 0.49381 0.4602 0.7748 0.4625 0.3457 0.4611 0.44 0.75 0.46 0.35 0.4601 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112731 NA NA 0.433953 0.368134 NA 0.384 NA 5.3124136 1121 6 18406387 18406387 G A intronic RNF144B NA NA NA intronic ENSG00000137393 NA NA NA NA NA 6p22.3 NA Name=p300,GATA3_(SC-268) Name=3 NA rs6925570 0.63 0.63 0.646 0.604233 0.6879 0.6736 0.5504 0.5371 0.5757 0.69 0.66 0.57 0.54 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312832 NA NA NA NA NA 0.652 NA 5.3121 1121 2 130893676 130893676 C T ncRNA_intronic CCDC74B-AS1 NA NA NA ncRNA_exonic ENSG00000223760 NA NA NA Score=602;Name=lod=372 NA 2q21.1 NA NA NA NA rs56036584 0.41 0.41 0.351 0.398363 0.3549 0.4435 0.4452 0.3449 0.4356 0.37 0.48 0.43 0.37 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.608684 NA NA NA NA NA 0.543 NA 5.3117666 1121 2 239141221 239141221 G C ncRNA_exonic LOC643387 NA NA NA ncRNA_exonic ENSG00000225057 NA NA NA Score=821;Name=lod=2880 NA 2q37.3 NA NA NA NA rs11694487 0.23 0.23 0.199 0.201877 0.3549 0.121 0.2695 0.1195 0.1912 0.36 0.12 0.32 0.11 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022616 NA NA NA NA NA 0.261 NA 5.3117666 1121 4 183959850 183959850 C G ncRNA_exonic FAM92A1P2 NA NA NA ncRNA_exonic ENSG00000230219 NA NA NA Score=600;Name=lod=366 NA 4q35.1 NA NA NA NA rs1075695 0.35 0.35 0.317 0.355631 0.3549 0.3403 0.4164 0.2307 0.498 0.38 0.36 0.36 0.27 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766519 NA NA NA NA NA 0.362 NA 5.3117666 1121 1 160062340 160062340 G A exonic IGSF8 NA synonymous SNV IGSF8:NM_052868:exon5:c.C1458T:p.D486D,IGSF8:NM_001206665:exon6:c.C1458T:p.D486D exonic ENSG00000162729 NA synonymous SNV ENSG00000162729:ENST00000314485:exon5:c.C1458T:p.D486D,ENSG00000162729:ENST00000368086:exon5:c.C1458T:p.D486D NA NA 1q23.2 NA NA NA NA rs41265757 0.11 0.11 0.072 0.0946486 0.1004 0.1786 0.1643 0.0091 0.0685 0.11 0.16 0.15 0.01 0.1321 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.720517 NA NA 0.122732 0.022944 NA 0.21 NA 5.3114346 1121 19 53313828 53313828 C A intronic ZNF28 NA NA NA ncRNA_exonic ENSG00000255875 NA NA NA Score=687;Name=lod=824 NA 19q13.41 NA NA NA NA rs73067555 0.04 0.04 0.029 0.0385383 0.0219 0.001 0.0403 0.0923 0.0204 0.03 0.0017 0.05 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48122 NA NA NA NA NA 0.029 NA 5.3114333 1121 19 53313841 53313841 G A intronic ZNF28 NA NA NA ncRNA_exonic ENSG00000255875 NA NA NA Score=687;Name=lod=824 NA 19q13.41 NA NA NA NA rs76034899 0.05 0.05 0.045 0.0517173 0.0219 0.001 0.0447 0.1407 0.0194 0.03 0.0017 0.05 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445043 NA NA NA NA NA 0.036 NA 5.3114333 1121 18 57445858 57445858 A G intergenic CCBE1,PMAIP1 dist=81214;dist=121334 NA NA ncRNA_exonic ENSG00000267486 NA NA NA Score=644;Name=lod=554 NA 18q21.32 NA NA Name=2 NA rs1791350 0.77 0.77 0.786 0.766174 0.6889 0.7768 0.6902 0.9244 0.6748 0.7 0.77 0.7 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526594 NA NA NA NA NA 0.797 NA 5.3111 1121 7 135406176 135406176 A G exonic SLC13A4 NA synonymous SNV SLC13A4:NM_012450:exon2:c.T195C:p.L65L exonic ENSG00000164707 NA synonymous SNV ENSG00000164707:ENST00000354042:exon2:c.T195C:p.L65L Score=554;Name=lod=237 NA 7q33 NA NA NA NA rs4596594 0.43 0.43 0.432 0.45028 0.4553 0.4435 0.3184 0.5091 0.4663 0.44 0.43 0.34 0.5 0.4422 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.72872 2.72872 NA 0.458372 0.516795 ID=COSM1568616;OCCURENCE=1(large_intestine) 0.478 NA 5.3107946 1121 4 183959891 183959891 A T ncRNA_exonic FAM92A1P2 NA NA NA ncRNA_exonic ENSG00000230219 NA NA NA Score=600;Name=lod=366 NA 4q35.1 NA NA NA NA rs1075694 0.35 0.35 0.327 0.359425 0.3559 0.3403 0.4207 0.2421 0.498 0.37 0.36 0.36 0.28 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098057 NA NA NA NA NA 0.362 NA 5.3107666 1121 19 12090662 12090662 C A UTR3 ZNF763 NM_001012753:c.*738C>A NA NA UTR3 ENSG00000197054 ENST00000343949:c.*738C>A NA NA NA NA 19p13.2 NA Name=SETDB1 NA NA rs114419819 0.01 0.01 0.009 0.0133786 0.0229 0.006 0.0144 0.003 0.0245 0.02 0.01 0.02 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340527 NA NA NA NA NA 0.007 NA 5.3104334 1121 9 140262424 140262424 C T exonic EXD3 NA synonymous SNV EXD3:NM_017820:exon6:c.G480A:p.A160A exonic ENSG00000187609 NA synonymous SNV ENSG00000187609:ENST00000340951:exon6:c.G480A:p.A160A,ENSG00000187609:ENST00000479452:exon6:c.G480A:p.A160A NA NA 9q34.3 NA NA NA NA rs11507683 0.1 0.1 0.086 0.0864617 0.1382 0.0288 0.0749 0.1475 0.0184 0.14 0.04 0.09 0.13 0.1016 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535482 NA NA 0.116491 0.139307 NA 0.08 NA 5.3103756 1121 9 123917020 123917020 T A exonic CNTRL NA synonymous SNV CNTRL:NM_007018:exon25:c.T4194A:p.V1398V exonic ENSG00000119397 NA synonymous SNV ENSG00000119397:ENST00000431571:exon8:c.T201A:p.V67V,ENSG00000119397:ENST00000373847:exon16:c.T2538A:p.V846V,ENSG00000119397:ENST00000373850:exon16:c.T2538A:p.V846V,ENSG00000119397:ENST00000238341:exon25:c.T4194A:p.V1398V,ENSG00000119397:ENST00000373855:exon27:c.T4194A:p.V1398V Score=516;Name=lod=166 NA 9q33.2 NA NA NA NA rs3736855 0.42 0.42 0.371 0.432109 0.4513 0.5694 0.5 0.1233 0.6401 0.46 0.58 0.5 0.13 0.4648 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230569 NA NA 0.440233 0.176804 NA 0.384 NA 5.3103336 1121 2 207825656 207825656 A T exonic CPO NA synonymous SNV CPO:NM_173077:exon6:c.A564T:p.A188A exonic ENSG00000144410 NA synonymous SNV ENSG00000144410:ENST00000272852:exon6:c.A564T:p.A188A Score=475;Name=lod=114 NA 2q33.3 NA NA NA NA rs13397039 0.39 0.39 0.4 0.382987 0.4573 0.4058 0.2579 0.3707 0.3885 0.45 0.39 0.29 0.38 0.4238 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189305 NA NA 0.475349 0.377213 NA 0.486 NA 5.3102176 1121 6 41888827 41888827 C G UTR5 MED20 NM_004275:c.-71G>C NA NA UTR5 ENSG00000124641 ENST00000265350:c.-71G>C,ENST00000409312:c.-71G>C,ENST00000409060:c.-71G>C,ENST00000434077:c.-3197G>C NA NA NA NA 6p21.1 NA Name=ELF1_(SC-631),HEY1,NFKB,Max,GR,c-Myc,SRF,GRp20,PAX5-C20,PAX5-N19,EBF1_(C-8),CEBPB,IRF1,TBP,Pol2(b),TAF1,JunD,GABP,HNF4A_(H-171),Pol2(phosphoS2),YY1,Egr-1,Pol2,ATF3,PU.1,Mxi1_(bHLH),NRSF,SP1,MEF2A,HDAC2_(SC-6296),ZNF263,IRF4_(M-17),Pol2-4H8,YY1_(C-20),HA-E2F1,BRCA1_(C-1863),c-Jun Name=148 NA rs2274578 0.49 0.49 0.501 0.482628 0.504 0.4603 0.3256 0.6029 0.4325 0.51 0.44 0.35 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164682 NA NA 0.51917 0.598266 NA 0.522 NA 5.3101634 1121 6 31322782 31322782 C G intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8 Name=2 NA rs2596496 0.71 0.71 0.726 0.746805 0.6899 0.6687 0.7349 0.8328 0.7781 0.66 0.67 0.72 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166063 NA NA NA NA NA 0.775 NA 5.3101 1121 9 136944465 136944465 T C intergenic BRD3,WDR5 dist=11324;dist=56745 NA NA ncRNA_exonic ENSG00000271525 NA NA NA Score=426;Name=lod=72 NA 9q34.2 NA Name=PU.1 NA NA rs2506703 0.7 0.7 0.724 0.713458 0.6899 0.6587 0.487 0.8593 0.7577 0.7 0.66 0.54 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184287 NA NA NA NA NA 0.667 NA 5.3101 1121 21 34926260 34926260 C T exonic SON NA nonsynonymous SNV SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C exonic ENSG00000159140 NA nonsynonymous SNV ENSG00000159140:ENST00000290239:exon3:c.C4723T:p.R1575C,ENSG00000159140:ENST00000300278:exon3:c.C4723T:p.R1575C,ENSG00000159140:ENST00000356577:exon3:c.C4723T:p.R1575C,ENSG00000159140:ENST00000381679:exon3:c.C4723T:p.R1575C,ENSG00000159140:ENST00000455528:exon3:c.C4723T:p.R1575C NA NA 21q22.11 NA NA NA NA rs13047599 0.72 0.72 0.705 0.716254 0.672 0.751 0.683 0.7814 0.6616 0.66 0.74 0.73 0.76 0.6779 0.77 0.51 T 0.001 B 0.0 B 0.199 N 1.000 P -1.355 N 2.99 T -1.077 T 0.000 T 0.383 -2.75 0 0.837 0.038 -0.042 4.394 -2.749948 NA 1 0.673372 0.766455 NA 0.609 NA 5.3100614 1121 4 155720274 155720274 T C exonic RBM46 NA synonymous SNV RBM46:NM_001277171:exon4:c.T960C:p.N320N,RBM46:NM_001277173:exon4:c.T960C:p.N320N,RBM46:NM_144979:exon4:c.T960C:p.N320N exonic ENSG00000151962 NA synonymous SNV ENSG00000151962:ENST00000281722:exon4:c.T960C:p.N320N,ENSG00000151962:ENST00000510397:exon4:c.T960C:p.N320N,ENSG00000151962:ENST00000514866:exon4:c.T960C:p.N320N Score=690;Name=lod=849 NA 4q32.1 NA NA NA NA rs156502 0.66 0.66 0.662 0.683706 0.4155 0.747 0.6787 0.9213 0.5767 0.42 0.79 0.61 0.9 0.531 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17126 NA NA 0.410116 0.844984 NA 0.717 NA 5.3100506 1121 5 148408101 148408101 A G exonic SH3TC2 NA synonymous SNV SH3TC2:NM_024577:exon11:c.T1194C:p.G398G exonic ENSG00000169247 NA synonymous SNV ENSG00000169247:ENST00000504690:exon11:c.T1194C:p.G398G,ENSG00000169247:ENST00000512049:exon11:c.T1173C:p.G391G,ENSG00000169247:ENST00000515425:exon11:c.T1194C:p.G398G,ENSG00000169247:ENST00000394358:exon12:c.T849C:p.G283G NA NA 5q32 NA NA NA NA rs1432793 0.43 0.43 0.455 0.437101 0.4652 0.2222 0.3516 0.6172 0.4468 0.48 0.26 0.4 0.57 0.4456 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.085177 NA NA 0.44593 0.560372 ID=COSM1130839,COSM1130840;OCCURENCE=1(prostate) 0.572 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118334.2;CLNDSDB=.;CLNDSDBID=. 5.3099366 1121 6 71665986 71665986 G A exonic B3GAT2 NA synonymous SNV B3GAT2:NM_080742:exon1:c.C147T:p.G49G exonic ENSG00000112309 NA synonymous SNV ENSG00000112309:ENST00000230053:exon1:c.C147T:p.G49G Score=336;Name=lod=31 NA 6q13 NA NA NA NA rs1574490 0.54 0.54 0.478 0.532748 0.3926 0.6448 0.6066 0.6104 0.4039 0.38 0.63 0.63 0.6 0.5326 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506139 NA NA 0.43153 0.55939 NA 0.152 NA 5.3099366 1121 5 79616083 79616083 G C exonic SPZ1 NA nonsynonymous SNV SPZ1:NM_032567:exon1:c.G49C:p.V17L exonic ENSG00000164299 NA nonsynonymous SNV ENSG00000164299:ENST00000296739:exon1:c.G49C:p.V17L,ENSG00000164299:ENST00000511881:exon2:c.G49C:p.V17L NA NA 5q14.1 NA NA NA NA rs1862136 0.78 0.78 0.803 0.791933 0.6342 0.9395 0.6729 0.8555 0.8006 0.64 0.95 0.68 0.85 0.7154 0.95 1 T 0.0 B 0.0 B 0.468 N 1.000 P -0.455 N 1.45 T -0.980 T 0.000 T 0.303 -1.351 0.028 1.24 0.011 -0.295 4.162 -1.351212 NA 1 0.673939 0.825785 NA 0.739 NA 5.3097944 1121 19 579627 579627 C T exonic BSG NA synonymous SNV BSG:NM_198589:exon2:c.C195T:p.D65D,BSG:NM_001728:exon3:c.C543T:p.D181D exonic ENSG00000172270 NA synonymous SNV ENSG00000172270:ENST00000353555:exon2:c.C195T:p.D65D,ENSG00000172270:ENST00000573216:exon2:c.C171T:p.D57D,ENSG00000172270:ENST00000333511:exon3:c.C543T:p.D181D NA NA 19p13.3 NA NA NA NA rs1803202 0.15 0.15 0.14 0.188698 0.1103 0.2282 0.0908 0.2095 0.2699 0.11 0.2 0.11 0.19 0.1461 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.079344 NA NA 0.100605 0.169091 NA 0.094 NA 5.3096616 1121 1 211032756 211032756 T A intronic KCNH1 NA NA NA ncRNA_exonic ENSG00000224668 NA NA NA Score=696;Name=lod=895 NA 1q32.2 NA NA NA NA rs61848964 0.01 0.01 0.006 0.00698882 0.0239 NA 0.0072 0.0015 0.0041 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294475 NA NA NA NA NA 0.109 NA 5.3094333 1121 8 97345590 97345590 A G intronic PTDSS1 NA NA NA intronic ENSG00000156471 NA NA NA NA NA 8q22.1 NA Name=CTCF,Rad21,SMC3_(ab9263),Znf143_(16618-1-AP),CTCFL_(SC-98982),CTCF_(C-20),CTCF_(SC-5916) Name=142 NA rs3735986 0.7 0.7 0.686 0.701078 0.6909 0.7044 0.6513 0.6823 0.7689 0.7 0.74 0.68 0.65 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.590249 1.590249 NA NA NA NA 0.717 NA 5.3091 1121 17 7358861 7358861 T C intronic CHRNB1 NA NA NA intronic ENSG00000170175 NA NA NA NA NA 17p13.1 NA Name=USF-1,c-Myc,NFKB,SIX5,SRF,YY1,ERalpha_a,CEBPB,BAF170,ELF1_(SC-631),PU.1,YY1_(C-20),USF1_(SC-8983),TR4,ETS1,Znf143_(16618-1-AP),GABP Name=146 NA rs2302762 0.49 0.49 0.449 0.476038 0.6909 0.2133 0.5533 0.3593 0.6288 0.69 0.23 0.61 0.37 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095398 NA NA NA NA NA 0.449 NA 5.3091 1121 22 22780581 22780581 C T intergenic LOC96610,ZNF280B dist=103257;dist=58191 NA NA ncRNA_exonic ENSG00000253889 NA NA NA Score=309;Name=lod=24 NA 22q11.22 NA Name=HEY1 NA NA rs165917 0.64 0.64 0.649 0.621805 0.6918 0.5486 0.4813 0.7148 0.5992 0.7 0.58 0.52 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321202 NA NA NA NA NA 0.63 NA 5.3082 1121 4 187534375 187534375 A G exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon13:c.T9351C:p.D3117D exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon13:c.T9351C:p.D3117D Score=464;Name=lod=103 NA 4q35.2 NA NA NA NA rs2249917 0.43 0.43 0.424 0.417931 0.4702 0.2808 0.4683 0.5446 0.2986 0.45 0.31 0.47 0.52 0.4408 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743433 NA NA 0.44814 0.525 NA 0.5 NA 5.3075266 1121 11 9715628 9715628 C T intronic SWAP70 NA NA NA intronic ENSG00000133789 NA NA NA NA NA 11p15.4 NA Name=CTCF,USF-1 Name=7 NA rs360049 0.68 0.68 0.641 0.697284 0.6928 0.6935 0.7291 0.5711 0.8538 0.68 0.72 0.77 0.58 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688364 NA NA NA NA NA 0.645 NA 5.3072 1121 8 144945792 144945792 T C exonic EPPK1 NA nonsynonymous SNV EPPK1:NM_031308:exon1:c.A1630G:p.K544E exonic ENSG00000227184 NA nonsynonymous SNV ENSG00000227184:ENST00000525985:exon2:c.A1630G:p.K544E NA NA 8q24.3 NA NA NA NA rs13255110 0.56 0.56 0.561 0.5625 0.6809 0.2798 0.6844 0.5983 0.5971 0.69 0.29 0.7 0.59 0.6486 0.7 1 T 0.0 B 0.0 B . . 1.000 P . . -0.16 T -0.939 T 0.000 T 0.015 -2.333 0.004 0.205 -0.412 -0.015 6.537 -2.333404 NA NA 0.696841 0.651614 ID=COSM454171;OCCURENCE=1(breast) 0.362 NA 5.3069924 1121 6 132910634 132910634 C T exonic TAAR5 NA synonymous SNV TAAR5:NM_003967:exon1:c.G192A:p.A64A exonic ENSG00000135569 NA synonymous SNV ENSG00000135569:ENST00000258034:exon1:c.G192A:p.A64A NA NA 6q23.2 NA NA NA NA rs3813354 0.19 0.19 0.186 0.239217 0.1044 0.3204 0.1859 0.1929 0.3947 0.09 0.31 0.18 0.19 0.161 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549768 NA NA 0.094302 0.162052 NA 0.188 NA 5.3069646 1121 14 101454578 101454578 A G upstream;downstream SNORD114-28;SNORD114-27 NA NA NA upstream;downstream ENSG00000200480;ENSG00000200636 NA NA NA NA NA 14q32.31 NA Name=GR,c-Fos Name=47 NA rs74797707 0.06 0.06 0.061 0.0810703 0.1382 0.0238 0.0605 0.0197 0.1789 0.13 0.02 0.05 0.04 0.104 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670012 NA NA 0.117529 0.030822 NA 0.109 NA 5.3069376 1121 14 101454594 101454594 A G upstream;downstream SNORD114-28;SNORD114-27 NA NA NA upstream;downstream ENSG00000200480;ENSG00000200636 NA NA NA NA NA 14q32.31 NA Name=GR,c-Fos Name=47 NA rs78341223 0.06 0.06 0.064 0.0810703 0.1382 0.0238 0.0605 0.0197 0.1789 0.13 0.02 0.05 0.04 0.1042 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652575 NA NA 0.117529 0.030822 NA 0.109 NA 5.3067376 1121 13 76369670 76369670 T C intronic LMO7 NA NA NA ncRNA_intronic ENSG00000261553 NA NA NA NA NA 13q22.2 Score=956;Name=V$LHX3_01 NA NA NA rs17065050 0.01 0.01 0.01 0.0151757 0.0268 NA 0.0072 0.0008 0.044 0.03 NA 0.01 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736972 NA NA NA NA NA NA NA 5.3065333 1121 8 110355728 110355728 T G UTR3 ENY2 NM_020189:c.*18T>G,NM_001193557:c.*18T>G NA NA UTR3 ENSG00000120533 ENST00000521688:c.*18T>G,ENST00000521662:c.*18T>G,ENST00000522766:c.*198T>G,ENST00000517311:c.*198T>G,ENST00000339942:c.*160T>G,ENST00000520147:c.*126T>G,ENST00000523335:c.*160T>G NA NA Score=663;Name=lod=657 NA 8q23.1 NA NA NA NA rs116980247 0.01 0.01 0.002 0.00898562 0.0089 NA 0.0115 NA 0.0286 0.01 NA 0.01 NA 0.0089 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.782837 1.782837 NA 0.009209 0.00164 NA NA NA 5.3063244 1121 6 31237061 31237061 C T intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8 Name=3 NA rs2894204 0.72 0.72 0.65 0.73103 0.6938 0.746 0.7911 0.7262 0.7178 0.69 0.73 0.78 0.71 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263839 NA NA NA NA NA 0.58 NA 5.3062 1121 3 186437944 186437944 T C exonic KNG1 NA synonymous SNV KNG1:NM_000893:exon2:c.T246C:p.D82D,KNG1:NM_001102416:exon2:c.T246C:p.D82D,KNG1:NM_001166451:exon2:c.T246C:p.D82D exonic ENSG00000113889 NA synonymous SNV ENSG00000113889:ENST00000265023:exon2:c.T246C:p.D82D,ENSG00000113889:ENST00000287611:exon2:c.T246C:p.D82D,ENSG00000113889:ENST00000447445:exon2:c.T246C:p.D82D NA NA 3q27.3 NA NA NA NA rs5029980 0.1 0.1 0.088 0.0974441 0.1272 0.0595 0.1455 0.0567 0.1268 0.13 0.04 0.15 0.06 0.1217 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342897 NA NA 0.111628 0.068543 ID=COSM149537,COSM149538;OCCURENCE=1(stomach) 0.058 NA 5.3061386 1121 9 90425693 90425693 G A intergenic CTSL3P,CTSL1P8 dist=23894;dist=33967 NA NA intergenic ENSG00000188029,ENSG00000232743 dist=23894;dist=5687 NA NA NA NA 9q22.1 NA Name=NRSF,eGFP-JunD,GATA-1,GABP,CEBPB,STAT1,GATA-2,Pol2-4H8,Pol2(b),TAL1_(SC-12984),GATA2_(CG2-96),IRF1,CCNT2,eGFP-GATA2,MafK_(ab50322) Name=3 NA rs57199069 0.04 0.04 0.058 0.048123 0.0278 NA 0.0346 0.1399 0.0041 0.02 NA 0.04 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108358 NA NA NA NA NA 0.065 NA 5.3055334 1121 14 70352100 70352100 C T intronic SMOC1 NA NA NA ncRNA_exonic ENSG00000242071 NA NA NA Score=799;Name=lod=2366 NA 14q24.2 NA NA NA NA rs139403281 0.01 0.01 0.008 0.00838658 0.0278 NA 0.013 NA 0.0051 0.03 NA 0.01 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.001802 NA NA NA NA NA 0.007 NA 5.3055333 1121 16 10206127 10206127 A T intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs113366903 0.05 0.05 0.038 0.0523163 0.0278 0.002 0.036 0.1543 0.0031 0.02 0.0035 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607037 NA NA NA NA NA 0.036 NA 5.3055333 1121 16 10206520 10206520 G C intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs112333946 0.05 0.05 0.039 0.0523163 0.0278 0.002 0.036 0.1543 0.0031 0.02 0.0035 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672046 NA NA NA NA NA 0.036 NA 5.3055333 1121 22 23632621 23632621 G C intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA Name=ZNF263 Name=91 NA rs9608101 0.17 0.17 0.174 0.172923 0.2525 0.0179 0.1571 0.2088 0.2137 0.25 0.02 0.19 0.22 0.2034 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.91562 NA NA 0.238605 0.193373 NA 0.196 NA 5.305495 1121 18 3447871 3447871 T C intronic TGIF1 NA NA NA intronic ENSG00000177426 NA NA NA NA NA 18p11.31 NA Name=STAT3,Pol2,SMC3_(ab9263),CTCF Name=107 NA rs151472 0.66 0.66 0.68 0.633187 0.6948 0.3988 0.5865 0.9554 0.409 0.67 0.44 0.57 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37065 1.37065 NA NA NA NA 0.652 NA 5.3052 1121 19 12256358 12256358 T G exonic ZNF625 NA synonymous SNV ZNF625:NM_145233:exon4:c.A873C:p.R291R exonic ENSG00000257591 NA synonymous SNV ENSG00000257591:ENST00000355738:exon4:c.A675C:p.R225R,ENSG00000257591:ENST00000439556:exon4:c.A873C:p.R291R,ENSG00000257591:ENST00000542938:exon4:c.A675C:p.R225R NA NA 19p13.2 NA Name=KAP1,SETDB1,ZNF274 NA NA rs12972621 0.38 0.38 0.356 0.39996 0.4533 0.6369 0.3862 0.0295 0.6115 0.44 0.58 0.41 0.04 0.4423 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.444977 1.444977 NA 0.466047 0.098275 NA 0.297 NA 5.3050196 1122 7 128641226 128641226 G C exonic TNPO3 NA synonymous SNV TNPO3:NM_001191028:exon6:c.C759G:p.L253L,TNPO3:NM_012470:exon6:c.C759G:p.L253L exonic ENSG00000064419 NA synonymous SNV ENSG00000064419:ENST00000265388:exon6:c.C759G:p.L253L,ENSG00000064419:ENST00000393245:exon6:c.C759G:p.L253L,ENSG00000064419:ENST00000471166:exon6:c.C759G:p.L253L,ENSG00000064419:ENST00000471234:exon6:c.C759G:p.L253L,ENSG00000064419:ENST00000482320:exon7:c.C561G:p.L187L Score=642;Name=lod=543 NA 7q32.1 NA NA NA NA rs2305324 0.36 0.36 0.343 0.341853 0.4801 0.3988 0.3199 0.1218 0.454 0.48 0.4 0.33 0.13 0.4097 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.115692 NA NA 0.472093 0.175443 NA 0.312 NA 5.3047736 1122 14 21944955 21944955 G C intronic RAB2B NA NA NA UTR5 ENSG00000092203 ENST00000405508:c.-483G>C NA NA NA NA 14q11.2 NA Name=Pol2,HEY1,ZEB1_(SC-25388),SRF,Egr-1,GATA-2,Pol2-4H8 Name=68 NA rs17516362 0.29 0.29 0.294 0.305511 0.2793 0.2579 0.1873 0.4191 0.3119 0.27 0.27 0.2 0.4 0.2892 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245408 NA NA 0.293605 0.382433 NA 0.29 NA 5.3045617 1122 19 12090404 12090404 T C UTR3 ZNF763 NM_001012753:c.*480T>C NA NA UTR3 ENSG00000197054 ENST00000343949:c.*480T>C NA NA NA NA 19p13.2 NA Name=SETDB1,KAP1 NA NA rs388288 0.06 0.06 0.074 0.0810703 0.0288 0.006 0.0303 0.2466 0.0245 0.02 0.01 0.04 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21812 NA NA NA NA NA 0.014 NA 5.3045334 1122 12 71065770 71065770 A G intronic PTPRR NA NA NA ncRNA_exonic ENSG00000257302 NA NA NA Score=352;Name=lod=36 NA 12q15 NA NA NA NA rs117154533 0.01 0.01 0.01 0.0125799 0.0288 NA 0.0086 0.0008 0.0276 0.04 NA 0.01 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.13254 NA NA NA NA NA NA NA 5.3045333 1122 12 71066558 71066558 A G intronic PTPRR NA NA NA ncRNA_exonic ENSG00000257302 NA NA NA Score=577;Name=lod=295 NA 12q15 NA NA NA NA rs74959294 0.01 0.01 0.007 0.0125799 0.0288 NA 0.0086 0.0008 0.0276 0.04 NA 0.01 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016354 NA NA NA NA NA NA NA 5.3045333 1122 20 50342285 50342285 A G intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),p300,FOXA1_(C-20),HDAC2_(SC-6296),AP-2gamma,SRF Name=10 NA rs1205708 0.81 0.81 0.802 0.815895 0.6958 0.996 0.8127 0.7579 0.8344 0.7 1 0.79 0.76 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056373 NA NA NA NA NA 0.906 NA 5.3042 1122 19 51109833 51109833 G A intergenic SNAR-F,SYT3 dist=1491;dist=15401 NA NA intergenic ENSG00000131409,ENSG00000213023 dist=38531;dist=14731 NA NA NA NA 19q13.33 NA Name=ZBTB33,SP1,E2F6,CTCF Name=27 NA rs117066094 0.01 0.01 0.008 0.00658946 0.0298 NA 0.0014 0.0008 0.001 0.04 NA 0.0028 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664538 NA NA NA NA NA NA NA 5.3035334 1122 12 71066086 71066086 C T intronic PTPRR NA NA NA ncRNA_exonic ENSG00000257302 NA NA NA Score=573;Name=lod=285 NA 12q15 NA NA NA NA rs77166304 0.01 0.01 0.01 0.0127796 0.0298 NA 0.0086 0.0008 0.0276 0.04 NA 0.01 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598992 NA NA NA NA NA NA NA 5.3035333 1122 14 88419924 88419924 A G intronic GALC NA NA NA ncRNA_exonic ENSG00000259096 NA NA NA Score=369;Name=lod=42 NA 14q31.3 NA NA NA NA rs148047454 0.02 0.02 0.013 0.0191693 0.0298 0.0109 0.0086 0.0023 0.047 0.03 0.01 0.01 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100132 NA NA NA NA NA 0.007 NA 5.3035333 1122 15 31229420 31229420 T C exonic FAN1 NA synonymous SNV FAN1:NM_014967:exon14:c.T3015C:p.H1005H exonic ENSG00000198690 NA synonymous SNV ENSG00000198690:ENST00000362065:exon14:c.T3015C:p.H1005H NA NA 15q13.3 Score=1000;Name=V$AML1_01 NA NA NA rs2955795 0.49 0.49 0.467 0.457069 0.4473 0.8294 0.4654 0.1089 0.5481 0.46 0.87 0.45 0.12 0.4755 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032957 NA NA 0.440349 0.168256 NA 0.565 NA 5.3035176 1122 17 73467897 73467897 A T UTR5 KIAA0195 NM_014738:c.-90A>T NA NA UTR5 ENSG00000177728 ENST00000577380:c.-90A>T,ENST00000314256:c.-90A>T,ENST00000582186:c.-14127A>T,ENST00000579208:c.-90A>T,ENST00000581252:c.-18508A>T,ENST00000582455:c.-90A>T,ENST00000581519:c.-90A>T NA NA NA NA 17q25.1 NA NA Name=3 NA rs58039730 0.03 0.03 0.035 0.0313498 0.0308 0.0258 0.0216 0.053 0.0153 0.03 0.02 0.03 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003541 NA NA NA NA NA 0.007 NA 5.3025334 1122 3 46352759 46352759 G C intergenic CCR3,CCR2 dist=44562;dist=42476 NA NA ncRNA_exonic ENSG00000236736 NA NA NA Score=586;Name=lod=321 NA 3p21.31 NA NA Name=9 NA rs6441962 0.73 0.73 0.725 0.733227 0.6978 0.6885 0.6816 0.8858 0.6462 0.7 0.68 0.67 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935666 NA NA NA NA NA 0.833 NA 5.3022 1122 1 160121899 160121899 A G exonic ATP1A4 NA synonymous SNV ATP1A4:NM_144699:exon1:c.A69G:p.K23K exonic ENSG00000132681 NA synonymous SNV ENSG00000132681:ENST00000368081:exon1:c.A69G:p.K23K,ENSG00000132681:ENST00000477338:exon1:c.A69G:p.K23K NA NA 1q23.2 NA NA NA NA rs77332724 0.08 0.08 0.041 0.0662939 0.1173 0.0456 0.1225 0.0068 0.0757 0.12 0.04 0.11 0.01 0.1193 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367747 NA NA 0.127907 0.023377 NA 0.138 NA 5.3021596 1122 8 56362222 56362222 A T ncRNA_exonic SBF1P1 NA NA NA ncRNA_exonic ENSG00000248522 NA NA NA Score=500;Name=lod=144 NA 8q12.1 NA NA NA NA rs2622585 0.22 0.22 0.21 0.20607 0.3648 0.122 0.2248 0.1309 0.2178 0.35 0.1 0.25 0.13 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302045 NA NA NA NA NA 0.167 NA 5.3018666 1122 7 143956742 143956742 C G ncRNA_intronic LOC728377 NA NA NA ncRNA_UTR5 ENSG00000243896 NA NA NA NA NA 7q35 Score=958;Name=V$NFAT_Q6 NA NA NA rs57024608 NA NA 0.142 NA NA NA NA NA NA NA NA NA NA 0.1892 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.602367 NA NA 0.175666 0.248281 NA NA NA 5.3018006 1122 2 99767304 99767304 T C UTR3 C2orf15 NM_144706:c.*7T>C NA NA UTR3 ENSG00000241962 ENST00000302513:c.*7T>C,ENST00000409684:c.*7T>C NA NA NA NA 2q11.2 NA NA Name=26 NA rs144085307 0.0032 0.0032 NA 0.00599042 0.008 NA NA 0.0023 0.0194 0.01 NA NA 0.002 0.0099 0.014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082916 NA NA 0.013837 0.00227 NA NA NA 5.3015964 1122 8 143823858 143823858 C G upstream SLURP1 NA NA NA upstream ENSG00000126233 NA NA NA NA NA 8q24.3 NA Name=c-Myc Name=10 NA rs2572914 0.26 0.26 0.252 0.27516 0.1938 0.4206 0.1657 0.2776 0.2832 0.19 0.41 0.17 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43173 NA NA 0.171492 0.235166 NA 0.261 NA 5.3013746 1122 1 110738296 110738296 G A exonic SLC6A17 NA synonymous SNV SLC6A17:NM_001010898:exon10:c.G1581A:p.S527S exonic ENSG00000197106 NA synonymous SNV ENSG00000197106:ENST00000331565:exon10:c.G1581A:p.S527S Score=667;Name=lod=685 NA 1p13.3 NA NA NA NA rs2784140 0.32 0.32 0.291 0.289736 0.4543 0.3016 0.3847 0.0439 0.3732 0.46 0.32 0.39 0.05 0.4141 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335356 1.335356 NA 0.497209 0.114616 ID=COSM146574;OCCURENCE=1(stomach) 0.391 NA 5.3010576 1122 7 100552550 100552550 T C intergenic ACHE,MUC12 dist=59009;dist=60354 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.T1301C:p.L434P NA NA 7q22.1 NA NA NA NA rs73163762 NA NA 0.147 0.153355 0.0258 0.0149 0.0677 0.3691 0.1963 NA NA NA NA 0.507 0.054 0.56 T 0.0 B 0.0 B . . 1.000 P -0.805 N 3.28 T -0.942 T 0.006 T 0.072 -1.985 0.007 1.79 0.307 0.080 6.533 -1.985227 NA 0.13 NA NA NA 0.051 NA 5.3005334 1122 1 243788009 243788009 A C intronic AKT3 NA NA NA ncRNA_exonic ENSG00000226766 NA NA NA Score=602;Name=lod=373 NA 1q44 NA NA NA NA rs12032481 0.05 0.05 0.048 0.0497204 0.0328 0.124 0.013 0.0038 0.0787 0.03 0.13 0.02 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022074 NA NA NA NA NA 0.087 NA 5.3005333 1122 11 102563739 102563739 C T exonic MMP27 NA synonymous SNV MMP27:NM_022122:exon9:c.G1227A:p.G409G exonic ENSG00000137675 NA synonymous SNV ENSG00000137675:ENST00000260229:exon9:c.G1227A:p.G409G NA NA 11q22.2 Score=964;Name=V$IK2_01 NA NA NA rs1276289 0.43 0.43 0.411 0.45008 0.4453 0.629 0.5072 0.2186 0.5429 0.45 0.59 0.47 0.21 0.4685 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949499 NA NA 0.452547 0.273491 ID=COSM428286;OCCURENCE=1(breast) 0.457 NA 5.3003196 1122 17 62796759 62796759 A C ncRNA_exonic PLEKHM1P NA NA NA ncRNA_exonic ENSG00000214176 NA NA NA Score=670;Name=lod=706 NA 17q24.1 NA NA NA NA rs2074182 0.22 0.22 0.149 0.271565 0.1928 0.128 0.1239 0.6664 0.0716 0.15 0.06 0.13 0.6 0.1736 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236317 NA 1 NA NA NA 0.297 NA 5.3002666 1122 14 35591174 35591174 T C UTR5 PPP2R3C NM_017917:c.-9A>G NA NA UTR5 ENSG00000092020,ENSG00000100890 ENST00000261475:c.-9A>G,ENST00000553273:c.-9A>G,ENST00000554222:c.-9A>G,ENST00000557217:c.-9A>G,ENST00000554899:c.-9A>G,ENST00000554265:c.-9A>G,ENST00000555630:c.-9A>G,ENST00000554488:c.-9A>G,ENST00000557288:c.-9A>G,ENST00000554563:c.-9A>G,ENST00000555644:c.-9A>G,ENST00000557278:c.-9A>G,ENST00000553282:c.-9A>G;ENST00000603611:c.-1278T>C NA NA NA NA 14q13.2 NA Name=Ini1,YY1,STAT3,HDAC2_(SC-6296),ZNF263,Pol2-4H8,HA-E2F1,Sin3Ak-20,FOSL2,FOXA1_(C-20),THAP1_(SC-98174),Nrf1,TCF12,TBP,ZEB1_(SC-25388),HEY1,c-Myc,SRF,TCF4,Pol2,PU.1,SP1,TR4,YY1_(C-20),TAF7_(SQ-8),MafK_(SC-477),TAF1,ETS1,GABP,p300,ELF1_(SC-631),FOXA1_(SC-101058) Name=148 NA rs1056879 0.38 0.38 0.369 0.40635 0.3151 0.3909 0.3314 0.4894 0.4571 0.32 0.41 0.3 0.51 0.3717 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.18103 3.18103 NA 0.346628 0.446664 NA 0.406 NA 5.2999054 1122 12 57649840 57649840 C T exonic R3HDM2 NA synonymous SNV R3HDM2:NM_014925:exon21:c.G2523A:p.K841K exonic ENSG00000179912 NA synonymous SNV ENSG00000179912:ENST00000548161:exon6:c.G759A:p.K253K,ENSG00000179912:ENST00000441731:exon12:c.G1608A:p.K536K,ENSG00000179912:ENST00000393811:exon13:c.G1704A:p.K568K,ENSG00000179912:ENST00000413953:exon13:c.G1704A:p.K568K,ENSG00000179912:ENST00000429355:exon14:c.G1818A:p.K606K,ENSG00000179912:ENST00000358907:exon21:c.G2523A:p.K841K,ENSG00000179912:ENST00000347140:exon23:c.G2523A:p.K841K,ENSG00000179912:ENST00000402412:exon23:c.G2565A:p.K855K,ENSG00000179912:ENST00000403821:exon23:c.G2625A:p.K875K Score=628;Name=lod=477 NA 12q13.3 NA NA NA NA rs4075325 0.39 0.39 0.337 0.416334 0.4155 0.4405 0.5533 0.2284 0.5491 0.41 0.45 0.52 0.21 0.4875 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.642126 2.642126 NA 0.464186 0.281661 NA 0.319 NA 5.2994806 1122 17 8285398 8285398 T C intronic RPL26 NA NA NA intronic ENSG00000161970,ENSG00000263809 NA NA NA NA NA 17p13.1 NA Name=Pol2-4H8 Name=2 NA rs422679 0.62 0.62 0.599 0.60643 0.7008 0.3552 0.7363 0.7337 0.5041 0.7 0.36 0.72 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830096 NA NA NA NA NA 0.768 NA 5.2992 1122 11 4790482 4790482 T C exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.A666G:p.L222L exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.A666G:p.L222L,ENSG00000188069:ENST00000380383:exon1:c.A687G:p.L229L NA NA 11p15.4 NA NA NA NA rs12792898 0.07 0.07 0.059 0.0459265 0.1412 NA 0.0951 0.0061 0.0143 0.14 NA 0.13 0.0041 0.0919 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064289 NA NA 0.13483 0.031804 NA 0.116 NA 5.2987366 1122 17 66246416 66246416 A G exonic AMZ2 NA nonsynonymous SNV AMZ2:NM_001033574:exon2:c.A88G:p.N30D,AMZ2:NM_016627:exon2:c.A88G:p.N30D,AMZ2:NM_001033569:exon3:c.A88G:p.N30D,AMZ2:NM_001033570:exon3:c.A88G:p.N30D,AMZ2:NM_001033571:exon3:c.A88G:p.N30D,AMZ2:NM_001033572:exon3:c.A88G:p.N30D exonic ENSG00000196704 NA nonsynonymous SNV ENSG00000196704:ENST00000577273:exon1:c.A88G:p.N30D,ENSG00000196704:ENST00000577985:exon1:c.A88G:p.N30D,ENSG00000196704:ENST00000359783:exon2:c.A88G:p.N30D,ENSG00000196704:ENST00000359904:exon2:c.A88G:p.N30D,ENSG00000196704:ENST00000392720:exon3:c.A88G:p.N30D,ENSG00000196704:ENST00000577866:exon3:c.A88G:p.N30D,ENSG00000196704:ENST00000579724:exon3:c.A88G:p.N30D,ENSG00000196704:ENST00000580548:exon3:c.A88G:p.N30D,ENSG00000196704:ENST00000580753:exon3:c.A88G:p.N30D,ENSG00000196704:ENST00000580837:exon3:c.A88G:p.N30D,ENSG00000196704:ENST00000584494:exon3:c.A88G:p.N30D NA NA 17q24.2 NA NA NA NA rs3213690 0.77 0.77 0.753 0.797923 0.6431 0.7619 0.8199 0.9705 0.7454 0.64 0.76 0.8 0.96 0.718 0.96 1 T 0.0 B 0.0 B 0.032 N 1.000 P -1.95 N 2.42 T -1.015 T 0.000 T 0.071 0.516 6.795 1.32 0.315 0.392 5.371 0.515707 NA 0.95 0.673605 0.924875 NA 0.703 NA 5.2986284 1122 6 137540335 137540335 C T intronic IFNGR1 NA NA NA intronic ENSG00000027697 NA NA NA NA NA 6q23.3 NA Name=Pol2,Pol2-4H8,Sin3Ak-20,CHD2_(N-1250) Name=12 NA rs11754268 0.24 0.24 0.203 0.294529 0.2306 0.4742 0.2133 0.0605 0.5491 0.23 0.43 0.22 0.07 0.2631 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.702868 1.702868 NA 0.207844 0.089738 NA 0.167 NA 5.298456 1122 5 35857235 35857235 C G intronic IL7R NA NA NA intronic ENSG00000168685 NA NA NA NA NA 5p13.2 NA Name=EBF,JunD,BATF Name=92 NA rs1494561 0.65 0.65 0.635 0.647564 0.7018 0.4246 0.5562 0.9319 0.502 0.71 0.4 0.59 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647477 NA NA NA NA NA 0.696 NA 5.2982 1122 21 43162150 43162150 G A exonic RIPK4 NA synonymous SNV RIPK4:NM_020639:exon8:c.C1203T:p.G401G exonic ENSG00000183421 NA synonymous SNV ENSG00000183421:ENST00000332512:exon8:c.C1203T:p.G401G,ENSG00000183421:ENST00000542057:exon8:c.C1014T:p.G338G,ENSG00000183421:ENST00000544709:exon8:c.C1014T:p.G338G,ENSG00000183421:ENST00000352483:exon9:c.C1347T:p.G449G Score=340;Name=lod=32 NA 21q22.3 NA NA NA NA rs3746894 0.47 0.47 0.432 0.440096 0.4811 0.5714 0.4654 0.2806 0.4601 0.48 0.59 0.49 0.28 0.4517 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525963 NA NA 0.435871 0.316674 NA 0.37 NA 5.2979956 1122 19 6731057 6731057 T C exonic GPR108 NA synonymous SNV GPR108:NM_001080452:exon17:c.A1500G:p.G500G exonic ENSG00000125734 NA synonymous SNV ENSG00000125734:ENST00000594500:exon5:c.A276G:p.G92G,ENSG00000125734:ENST00000594034:exon6:c.A402G:p.G134G,ENSG00000125734:ENST00000264080:exon17:c.A1500G:p.G500G,ENSG00000125734:ENST00000430424:exon17:c.A774G:p.G258G Score=560;Name=lod=252 NA 19p13.3 NA Name=GR NA NA rs2279624 0.75 0.75 0.757 0.741414 0.8181 0.6687 0.7536 0.82 0.6227 0.8 0.66 0.74 0.8 0.755 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228246 NA NA 0.795595 0.812197 NA 0.225 NA 5.2979716 1122 3 12112247 12112247 C T intronic SYN2 NA NA NA ncRNA_exonic ENSG00000226642 NA NA NA Score=858;Name=lod=4087 NA 3p25.2 NA NA NA NA rs12489177 0.12 0.12 0.122 0.109625 0.0358 0.1845 0.0432 0.1982 0.0358 0.04 0.22 0.04 0.18 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958924 NA NA NA NA NA 0.072 NA 5.2975333 1122 18 61151659 61151659 G T UTR5 SERPINB5 NM_002639:c.-3G>T NA NA UTR5 ENSG00000206075 ENST00000382771:c.-3G>T,ENST00000489441:c.-3G>T,ENST00000424602:c.-3G>T NA NA NA NA 18q21.33 NA Name=Pol2(b) NA NA rs77710366 0.02 0.02 0.016 0.0173722 0.0139 NA 0.0144 0.0325 0.0204 0.01 NA 0.02 0.04 0.0119 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.788003 2.788003 NA 0.010116 0.029505 NA 0.036 NA 5.2974174 1122 17 80159403 80159403 C A intronic CCDC57 NA NA NA intronic ENSG00000176155 NA NA NA NA NA 17q25.3 NA Name=ZNF263,Pol2 Name=6 NA rs11657459 0.13 0.13 0.135 0.111022 0.1998 0.0565 0.1268 0.0552 0.1401 0.21 0.07 0.15 0.05 0.2843 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.840182 NA NA 0.218669 0.09229 NA 0.145 NA 5.297231 1122 3 194379567 194379567 A G intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA Name=c-Jun,c-Fos Name=19 NA rs1675948 0.66 0.66 0.628 0.63758 0.7038 0.8651 0.6282 0.3366 0.7485 0.72 0.86 0.63 0.35 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08977 NA NA NA NA NA 0.536 NA 5.2962 1122 8 10467576 10467576 T C exonic RP1L1 NA synonymous SNV RP1L1:NM_178857:exon4:c.A4032G:p.T1344T exonic ENSG00000183638 NA synonymous SNV ENSG00000183638:ENST00000382483:exon4:c.A4032G:p.T1344T NA NA 8p23.1 NA NA NA NA rs4840499 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3705 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096356 NA NA NA NA NA 0.261 NA 5.2961666 1122 11 4944892 4944892 G C exonic OR51G1 NA synonymous SNV OR51G1:NM_001005237:exon1:c.C678G:p.T226T exonic ENSG00000176879 NA synonymous SNV ENSG00000176879:ENST00000321961:exon1:c.C678G:p.T226T NA NA 11p15.4 NA NA NA NA rs34583466 0.07 0.07 0.048 0.048722 0.1441 NA 0.0937 0.0136 0.0164 0.14 NA 0.13 0.02 0.0938 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.757475 NA NA 0.13262 0.036801 NA 0.116 NA 5.2961466 1122 16 69350035 69350035 A C intronic VPS4A NA NA NA intronic ENSG00000132612,ENSG00000260914 NA NA NA NA NA 16q22.1 NA Name=c-Myc,Max Name=7 NA rs3817030 0.2 0.2 0.199 0.208866 0.2336 0.0456 0.1801 0.3949 0.1207 0.22 0.05 0.2 0.36 0.2161 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590053 NA NA 0.254233 0.379302 NA 0.188 NA 5.296067 1122 1 166826752 166826752 A G UTR3 TADA1 NM_053053:c.*52T>C NA NA UTR3 ENSG00000152382 ENST00000367874:c.*52T>C NA NA NA NA 1q24.1 Score=759;Name=V$MEF2_04 NA NA NA rs34671474 0.01 0.01 0.005 0.00519169 0.0189 NA 0.0086 NA 0.001 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134544 NA NA 0.018584 0.006849 NA 0.007 NA 5.2958494 1122 10 104184953 104184953 C G UTR5 CUEDC2 NM_024040:c.-8G>C NA NA UTR5 ENSG00000107874 ENST00000369937:c.-8G>C NA NA Score=259;Name=lod=15 NA 10q24.32 Score=862;Name=V$YY1_01 NA NA NA rs11597439 0.26 0.26 0.226 0.284345 0.3559 0.1845 0.353 0.1362 0.4652 0.34 0.19 0.37 0.14 0.3433 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.838848 1.838848 NA 0.338584 0.149761 NA 0.312 NA 5.2955494 1122 4 154525458 154525458 C T exonic KIAA0922 NA synonymous SNV KIAA0922:NM_001131007:exon25:c.C3294T:p.A1098A,KIAA0922:NM_015196:exon25:c.C3291T:p.A1097A exonic ENSG00000121210 NA synonymous SNV ENSG00000121210:ENST00000240487:exon19:c.C2625T:p.A875A,ENSG00000121210:ENST00000440693:exon23:c.C3042T:p.A1014A,ENSG00000121210:ENST00000409663:exon25:c.C3291T:p.A1097A,ENSG00000121210:ENST00000409959:exon25:c.C3294T:p.A1098A NA NA 4q31.3 NA NA NA NA rs1063151 0.16 0.16 0.143 0.16274 0.1153 0.3264 0.2248 0.0068 0.2096 0.11 0.33 0.19 0.01 0.1453 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877342 NA NA 0.110581 0.028143 ID=COSM1131221;OCCURENCE=1(prostate) 0.123 NA 5.2954856 1122 17 20013802 20013802 G A exonic SPECC1 NA synonymous SNV SPECC1:NM_001033553:exon3:c.G210A:p.V70V,SPECC1:NM_001243439:exon3:c.G210A:p.V70V,SPECC1:NM_152904:exon3:c.G210A:p.V70V exonic ENSG00000128487 NA synonymous SNV ENSG00000128487:ENST00000261503:exon3:c.G210A:p.V70V,ENSG00000128487:ENST00000395527:exon3:c.G210A:p.V70V,ENSG00000128487:ENST00000395529:exon3:c.G210A:p.V70V,ENSG00000128487:ENST00000580934:exon3:c.G210A:p.V70V,ENSG00000128487:ENST00000581973:exon3:c.G210A:p.V70V,ENSG00000128487:ENST00000583463:exon4:c.G210A:p.V70V,ENSG00000128487:ENST00000583482:exon4:c.G210A:p.V70V,ENSG00000128487:ENST00000583528:exon5:c.G210A:p.V70V NA NA 17p11.2 NA NA NA NA rs3764436 0.1 0.1 0.078 0.108826 0.1223 0.0962 0.1369 0.0787 0.1288 0.13 0.09 0.12 0.07 0.1155 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561107 NA NA 0.133488 0.087835 NA 0.145 NA 5.2953786 1122 9 8389364 8389364 C G exonic PTPRD NA synonymous SNV PTPRD:NM_001171025:exon20:c.G3033C:p.G1011G,PTPRD:NM_130393:exon20:c.G3006C:p.G1002G,PTPRD:NM_001040712:exon21:c.G3024C:p.G1008G,PTPRD:NM_130391:exon22:c.G3033C:p.G1011G,PTPRD:NM_130392:exon22:c.G3036C:p.G1012G,PTPRD:NM_002839:exon37:c.G4254C:p.G1418G exonic ENSG00000153707 NA synonymous SNV ENSG00000153707:ENST00000397606:exon20:c.G3033C:p.G1011G,ENSG00000153707:ENST00000397617:exon20:c.G3033C:p.G1011G,ENSG00000153707:ENST00000537002:exon20:c.G3024C:p.G1008G,ENSG00000153707:ENST00000397611:exon21:c.G3024C:p.G1008G,ENSG00000153707:ENST00000355233:exon22:c.G3036C:p.G1012G,ENSG00000153707:ENST00000358503:exon22:c.G4188C:p.G1396G,ENSG00000153707:ENST00000486161:exon22:c.G3033C:p.G1011G,ENSG00000153707:ENST00000360074:exon23:c.G4215C:p.G1405G,ENSG00000153707:ENST00000356435:exon26:c.G4254C:p.G1418G,ENSG00000153707:ENST00000540109:exon26:c.G4254C:p.G1418G,ENSG00000153707:ENST00000381196:exon34:c.G4254C:p.G1418G Score=628;Name=lod=476 NA 9p24.1 NA NA NA NA rs2279776 0.53 0.53 0.529 0.55631 0.4354 0.6329 0.451 0.6195 0.591 0.44 0.6 0.45 0.64 0.4992 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781699 NA NA 0.43686 0.578075 NA 0.471 NA 5.2952066 1122 16 69350069 69350069 C G intronic VPS4A NA NA NA intronic ENSG00000132612,ENSG00000260914 NA NA NA NA NA 16q22.1 NA Name=Max,c-Myc Name=7 NA rs12708896 0.2 0.2 0.223 0.208866 0.2336 0.0456 0.1801 0.3949 0.1207 0.22 0.05 0.2 0.36 0.2162 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.997222 NA NA 0.255196 0.37982 NA 0.188 NA 5.295004 1123 6 160514541 160514541 T C ncRNA_exonic LOC729603 NA NA NA ncRNA_exonic ENSG00000213073 NA NA NA Score=651;Name=lod=588 NA 6q25.3 NA NA NA NA rs1888727 0.51 0.51 0.508 0.528155 0.3718 0.6954 0.4352 0.6074 0.4755 0.37 0.71 0.42 0.56 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171961 NA NA NA NA NA 0.543 NA 5.2948666 1123 15 85483991 85483991 A C intronic SLC28A1 NA NA NA ncRNA_exonic ENSG00000271044 NA NA NA Score=707;Name=lod=993 NA 15q25.3 NA NA NA NA rs117679923 0.02 0.02 0.019 0.0159744 0.0388 NA 0.0072 0.0008 0.0358 0.04 NA 0.01 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206262 NA NA NA NA NA NA NA 5.2945333 1123 11 18487305 18487305 C G exonic LDHAL6A NA synonymous SNV LDHAL6A:NM_144972:exon3:c.C366G:p.P122P,LDHAL6A:NM_001144071:exon4:c.C366G:p.P122P exonic ENSG00000166800 NA synonymous SNV ENSG00000166800:ENST00000280706:exon3:c.C366G:p.P122P,ENSG00000166800:ENST00000396213:exon4:c.C366G:p.P122P NA NA 11p15.1 NA NA NA NA rs17851143 0.09 0.09 0.063 0.0874601 0.1233 0.0615 0.1268 0.0545 0.0941 0.11 0.05 0.12 0.07 0.1147 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.25827 NA NA 0.134288 0.072078 ID=COSM1179747;OCCURENCE=1(prostate) 0.109 NA 5.2943786 1123 10 50901938 50901938 C T exonic C10orf53 NA synonymous SNV C10orf53:NM_001042427:exon2:c.C216T:p.F72F,C10orf53:NM_182554:exon2:c.C216T:p.F72F exonic ENSG00000178645 NA synonymous SNV ENSG00000178645:ENST00000374111:exon2:c.C216T:p.F72F,ENSG00000178645:ENST00000374112:exon2:c.C216T:p.F72F,ENSG00000178645:ENST00000374113:exon2:c.C216T:p.F72F,ENSG00000178645:ENST00000535836:exon2:c.C216T:p.F72F Score=395;Name=lod=54 NA 10q11.23 NA NA NA NA rs1133837 0.37 0.37 0.375 0.353035 0.4761 0.1389 0.3732 0.3707 0.409 0.5 0.16 0.36 0.4 0.4257 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.674891 1.674891 NA 0.471279 0.38039 NA 0.486 NA 5.2935876 1123 5 94050487 94050487 T A exonic MCTP1 NA synonymous SNV MCTP1:NM_001002796:exon20:c.A2052T:p.I684I,MCTP1:NM_024717:exon20:c.A2715T:p.I905I exonic ENSG00000175471 NA synonymous SNV ENSG00000175471:ENST00000505078:exon13:c.A1263T:p.I421I,ENSG00000175471:ENST00000429576:exon17:c.A1794T:p.I598I,ENSG00000175471:ENST00000508509:exon17:c.A1875T:p.I625I,ENSG00000175471:ENST00000312216:exon20:c.A2052T:p.I684I,ENSG00000175471:ENST00000515393:exon20:c.A2715T:p.I905I Score=685;Name=lod=807 NA 5q15 NA NA NA NA rs2636 0.41 0.41 0.363 0.396965 0.4662 0.4345 0.4827 0.1853 0.5123 0.47 0.44 0.52 0.21 0.4512 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392219 1.392219 NA 0.455698 0.233772 NA 0.399 NA 5.2935686 1123 3 57557834 57557834 A G UTR3 ARF4 NM_001660:c.*105T>C NA NA UTR3 ENSG00000168374 ENST00000303436:c.*105T>C,ENST00000496292:c.*105T>C,ENST00000489843:c.*105T>C,ENST00000486310:c.*493T>C NA NA Score=750;Name=lod=1486 NA 3p14.3 NA NA NA NA rs11964 0.02 0.02 0.016 0.0151757 0.0398 NA 0.0259 0.0023 0.0153 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.472889 1.472889 NA NA NA NA 0.022 NA 5.2935334 1123 1 109806834 109806834 C T exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon10:c.C5136T:p.P1712P exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon10:c.C5136T:p.P1712P Score=470;Name=lod=108 NA 1p13.3 NA NA NA NA rs6698843 0.39 0.39 0.456 0.353435 0.4751 0.498 0.4654 0.0764 0.3742 0.46 0.51 0.49 0.08 0.4312 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025012 NA NA 0.466977 0.133227 NA 0.326 NA 5.2933896 1123 1 161577657 161577657 G A ncRNA_exonic HSPA7 NA NA NA ncRNA_exonic ENSG00000225217 NA NA NA Score=790;Name=lod=2164 NA 1q23.3 NA NA NA NA rs61802306 0.24 0.24 0.28 0.286142 0.3738 0.2728 0.2925 0.2375 0.271 0.31 0.23 0.24 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218408 NA NA NA NA NA 0.304 NA 5.2928666 1123 10 134997480 134997480 C T exonic KNDC1 NA synonymous SNV KNDC1:NM_152643:exon5:c.C612T:p.F204F exonic ENSG00000171798 NA synonymous SNV ENSG00000171798:ENST00000368571:exon4:c.C417T:p.F139F,ENSG00000171798:ENST00000304613:exon5:c.C612T:p.F204F,ENSG00000171798:ENST00000368572:exon5:c.C612T:p.F204F Score=462;Name=lod=101 NA 10q26.3 NA NA NA NA rs57510763 0.4 0.4 0.372 0.419529 0.4384 0.5843 0.3876 0.118 0.6605 0.46 0.59 0.38 0.11 0.4673 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.635864 NA NA 0.468256 0.167272 NA 0.341 NA 5.2927106 1123 5 178391902 178391902 A C exonic ZNF454 NA nonsynonymous SNV ZNF454:NM_001178089:exon5:c.A497C:p.D166A,ZNF454:NM_001178090:exon5:c.A497C:p.D166A,ZNF454:NM_182594:exon5:c.A497C:p.D166A exonic ENSG00000178187 NA nonsynonymous SNV ENSG00000178187:ENST00000320129:exon5:c.A497C:p.D166A,ENSG00000178187:ENST00000519564:exon5:c.A497C:p.D166A NA NA 5q35.3 NA NA NA NA rs12719860 0.67 0.67 0.665 0.660144 0.6869 0.6597 0.6931 0.6437 0.6319 0.68 0.64 0.71 0.65 0.6721 0.71 0.54 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 3.22 T -0.970 T 0.000 T 0.043 -1.004 0.255 0.689 0.063 -0.173 0.826 -1.003612 NA 0.77 0.682209 0.640036 NA 0.717 NA 5.2921244 1123 22 30683285 30683285 C G intronic GATSL3 NA NA NA intronic ENSG00000239282,ENSG00000248751 NA NA NA NA NA 22q12.2 NA Name=E2F6,CTCF Name=9 NA rs5753058 0.18 0.18 0.194 0.158347 0.2535 0.1448 0.1614 0.1346 0.1043 0.24 0.12 0.17 0.15 0.2015 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.466792 1.466792 NA 0.253215 0.148157 NA 0.268 NA 5.291785 1123 19 50475259 50475259 G C ncRNA_intronic SIGLEC16 NA NA NA ncRNA_exonic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs12463036 0.22 0.22 0.215 0.194888 0.1789 0.3304 0.1571 0.1717 0.1299 0.18 0.32 0.18 0.2 0.1965 0.32 0.11 T . . . . 0.072 N 1.000 P . . . . -1.017 T 0.000 T . 2.133 13.09 -0.398 -0.015 0.323 4.022 2.132987 2.132987 0.04 NA NA NA 0.152 NA 5.2912666 1123 16 3304762 3304762 A G exonic MEFV NA synonymous SNV MEFV:NM_000243:exon2:c.T306C:p.D102D exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000219596:exon2:c.T306C:p.D102D,ENSG00000103313:ENST00000537682:exon2:c.T306C:p.D102D,ENSG00000103313:ENST00000538326:exon2:c.T306C:p.D102D,ENSG00000103313:ENST00000542898:exon2:c.T306C:p.D102D,ENSG00000103313:ENST00000570511:exon2:c.T306C:p.D102D NA NA 16p13.3 NA NA NA NA rs224225 0.42 0.42 0.39 0.389377 0.4732 0.1577 0.5937 0.5265 0.2117 0.47 0.18 0.57 0.54 0.4382 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096509 NA NA 0.464008 0.500462 ID=COSM435205;OCCURENCE=1(breast) 0.391 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=single;CLNACC=RCV000030182.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 5.2912586 1123 11 6292065 6292065 C A intronic CCKBR NA NA NA exonic ENSG00000110148 NA synonymous SNV ENSG00000110148:ENST00000525462:exon4:c.C843A:p.G281G NA NA 11p15.4 NA Name=USF-1 NA NA rs1800843 0.14 0.14 0.123 0.154553 0.1839 0.0228 0.1628 0.2315 0.1503 0.17 0.03 0.17 0.2 0.1633 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.843527 NA NA 0.195414 0.210586 NA 0.123 NA 5.2907193 1123 10 32800595 32800595 A G intronic CCDC7 NA NA NA ncRNA_exonic ENSG00000231245 NA NA NA Score=598;Name=lod=359 NA 10p11.22 NA NA NA NA rs138607647 0.03 0.03 0.016 0.0247604 0.0427 NA 0.0173 0.034 0.0245 0.04 NA 0.02 0.03 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.78608 1.78608 NA NA NA NA NA NA 5.2906333 1123 19 39361658 39361658 G C intronic RINL NA NA NA ncRNA_intronic ENSG00000269050 NA NA NA NA NA 19q13.2 NA Name=ZNF263 Name=3 NA rs8100220 0.43 0.43 0.41 0.401757 0.3211 0.619 0.464 0.3873 0.2362 0.32 0.59 0.46 0.4 0.3801 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938992 NA NA 0.341512 0.372674 NA 0.312 NA 5.2906213 1123 3 186570892 186570892 T G exonic ADIPOQ NA synonymous SNV ADIPOQ:NM_004797:exon2:c.T45G:p.G15G,ADIPOQ:NM_001177800:exon3:c.T45G:p.G15G exonic ENSG00000181092 NA synonymous SNV ENSG00000181092:ENST00000320741:exon2:c.T45G:p.G15G,ENSG00000181092:ENST00000412955:exon2:c.T45G:p.G15G,ENSG00000181092:ENST00000444204:exon3:c.T45G:p.G15G NA NA 3q27.3 NA NA NA NA rs2241766 0.14 0.14 0.119 0.151358 0.1322 0.2986 0.1859 0.0356 0.1513 0.11 0.28 0.17 0.02 0.1289 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545615 NA NA 0.115233 0.048116 NA 0.043 NA 5.2903336 1123 1 9009470 9009470 G C exonic CA6 NA synonymous SNV CA6:NM_001215:exon2:c.G228C:p.G76G,CA6:NM_001270500:exon2:c.G228C:p.G76G exonic ENSG00000131686 NA synonymous SNV ENSG00000131686:ENST00000319474:exon2:c.G228C:p.G76G,ENSG00000131686:ENST00000377436:exon2:c.G228C:p.G76G,ENSG00000131686:ENST00000377443:exon2:c.G228C:p.G76G,ENSG00000131686:ENST00000480186:exon2:c.G228C:p.G76G NA NA 1p36.23 NA NA NA NA rs2274330 0.23 0.23 0.244 0.262181 0.1213 0.1647 0.1037 0.5946 0.1708 0.12 0.17 0.11 0.57 0.1454 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070819 NA NA 0.109884 0.492056 NA 0.304 NA 5.2900826 1123 1 111862136 111862136 C G intronic CHIA NA NA NA ncRNA_intronic ENSG00000229283 NA NA NA NA NA 1p13.2 NA Name=NFKB,MEF2A NA NA rs114909116 0.01 0.01 0.004 0.00678914 0.0189 NA 0.0159 NA 0.0041 0.01 NA 0.02 NA 0.0105 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109228 NA NA 0.014419 0.002724 NA NA NA 5.2895143 1123 11 103780455 103780455 A G exonic PDGFD NA synonymous SNV PDGFD:NM_025208:exon7:c.T1080C:p.C360C,PDGFD:NM_033135:exon7:c.T1062C:p.C354C exonic ENSG00000170962 NA synonymous SNV ENSG00000170962:ENST00000302251:exon7:c.T1062C:p.C354C,ENSG00000170962:ENST00000393158:exon7:c.T1080C:p.C360C NA NA 11q22.3 Score=680;Name=V$PPARG_02 NA NA NA rs10791649 0.47 0.47 0.462 0.461462 0.4523 0.4603 0.3487 0.5106 0.4857 0.44 0.5 0.39 0.54 0.4464 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771922 NA NA 0.478832 0.481381 NA 0.377 NA 5.2891346 1123 6 33095801 33095801 C T ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA Score=513;Name=lod=162 NA 6p21.32 NA NA NA NA rs3129273 0.35 0.35 0.33 0.366014 0.3777 0.4901 0.3444 0.1876 0.4826 0.36 0.51 0.31 0.18 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242656 NA NA NA NA NA 0.312 NA 5.2889666 1123 6 33095836 33095836 G A ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA Score=513;Name=lod=162 NA 6p21.32 NA NA NA NA rs3117011 0.35 0.35 0.33 0.369609 0.3777 0.4901 0.3458 0.2005 0.4826 0.36 0.51 0.31 0.19 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025292 NA NA NA NA NA 0.319 NA 5.2889666 1123 7 37960835 37960835 G A intronic EPDR1 NA NA NA intronic ENSG00000086289,ENSG00000106483 NA NA NA NA NA 7p14.1 NA Name=p300,E2F6,Pol2,ZNF263,HA-E2F1,Ini1 Name=74 NA rs13240429 0.26 0.26 0.233 0.234425 0.2396 0.2252 0.219 0.264 0.2096 0.25 0.23 0.24 0.34 0.2565 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370992 1.370992 NA 0.215186 0.224055 NA 0.13 NA 5.288714 1123 1 89295015 89295015 C T intronic PKN2 NA NA NA ncRNA_exonic ENSG00000241975 NA NA NA Score=698;Name=lod=918 NA 1p22.2 NA NA NA NA rs3767387 0.11 0.11 0.125 0.132987 0.0447 0.0337 0.0476 0.3601 0.0798 0.05 0.04 0.05 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134607 NA NA NA NA NA 0.188 NA 5.2886333 1123 6 116360766 116360766 C G ncRNA_exonic TPI1P3 NA NA NA intronic ENSG00000111816 NA NA NA Score=336;Name=lod=31 NA 6q22.1 NA NA NA NA rs77427140 0.06 0.06 0.032 0.0445288 0.0447 0.0278 0.1671 0.0061 0.0266 0.05 0.04 0.17 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910958 NA NA NA NA NA 0.022 NA 5.2886333 1123 17 16593798 16593798 C T exonic CCDC144A NA synonymous SNV CCDC144A:NM_014695:exon1:c.C84T:p.S28S exonic ENSG00000170160,ENSG00000266302 NA synonymous SNV ENSG00000170160:ENST00000340621:exon1:c.C84T:p.S28S,ENSG00000170160:ENST00000360495:exon1:c.C84T:p.S28S,ENSG00000170160:ENST00000360524:exon1:c.C84T:p.S28S,ENSG00000170160:ENST00000399273:exon1:c.C84T:p.S28S,ENSG00000170160:ENST00000443444:exon1:c.C84T:p.S28S,ENSG00000266302:ENST00000448331:exon1:c.C84T:p.S28S,ENSG00000170160:ENST00000456009:exon1:c.C84T:p.S28S NA NA 17p11.2 NA NA NA NA rs2349265 0.07 0.07 0.058 0.053115 0.1571 NA 0.0865 0.0159 0.0276 0.15 NA 0.08 0.01 0.0928 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261845 NA NA 0.128488 0.031548 NA 0.029 NA 5.2882786 1123 6 40996381 40996381 G A intronic UNC5CL NA NA NA intronic ENSG00000124602 NA NA NA NA NA 6p21.1 NA Name=TAF1,Pol2-4H8 Name=141 NA rs742492 0.23 0.23 0.211 0.276757 0.2038 0.2798 0.268 0.2383 0.407 0.21 0.27 0.25 0.19 0.2787 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921727 NA NA 0.229316 0.223109 NA 0.145 NA 5.288184 1123 14 64897018 64897018 C A intronic MTHFD1 NA NA NA ncRNA_intronic ENSG00000258824 NA NA NA NA NA 14q23.3 NA Name=SMC3_(ab9263),Rad21,CTCF NA NA rs59096477 0.05 0.05 0.057 0.0593051 0.0229 0.0139 0.0288 0.1747 0.0092 0.02 0.01 0.02 0.15 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.124356 NA NA 0.022627 0.157514 NA 0.072 NA 5.2878063 1123 20 1616206 1616206 A G exonic SIRPG NA nonsynonymous SNV SIRPG:NM_018556:exon4:c.T788C:p.V263A exonic ENSG00000089012 NA nonsynonymous SNV ENSG00000089012:ENST00000303415:exon4:c.T788C:p.V263A,ENSG00000089012:ENST00000381580:exon4:c.T689C:p.V230A NA NA 20p13 NA NA NA NA rs6043409 0.76 0.76 0.745 0.797125 0.66 0.8482 0.7824 0.8253 0.8579 0.67 0.84 0.74 0.84 0.7296 0.85 1 T 0.0 B 0.001 B 0.033 N 1.000 P -1.215 N 6.24 T -0.985 T 0.000 T 0.016 -1.973 0.007 -0.896 -0.747 0.362 0.487 -1.973249 NA 1 0.656047 0.802088 NA 0.761 NA 5.2876864 1123 2 112698460 112698460 G A intronic MERTK NA NA NA ncRNA_exonic ENSG00000225496 NA NA NA Score=616;Name=lod=424 NA 2q13 NA NA NA NA rs10165614 0.05 0.05 0.055 0.0503195 0.0457 0.002 0.0389 0.121 0.0174 0.05 NA 0.05 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.980314 1.980314 NA NA NA NA 0.109 NA 5.2876333 1123 20 12990057 12990057 T A intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA Name=CTCF,Rad21 Name=83 NA rs3761894 0.21 0.21 0.18 0.222045 0.2197 0.254 0.2522 0.0454 0.409 0.23 0.33 0.21 0.03 0.2528 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851116 NA NA 0.240233 0.076941 NA 0.152 NA 5.287267 1123 3 125826213 125826213 C T ncRNA_intronic ALDH1L1-AS1 NA NA NA ncRNA_intronic ENSG00000250218 NA NA NA NA NA 3q21.3 NA NA Name=3 NA rs2276730 0.32 0.32 0.346 0.316294 0.3797 0.1825 0.2939 0.407 0.2822 0.38 0.19 0.28 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.516371 NA NA NA NA NA 0.261 NA 5.2869666 1123 11 75353891 75353891 C A intronic MAP6 NA NA NA ncRNA_exonic ENSG00000255280 NA NA NA NA NA 11q13.5 NA Name=MafK_(ab50322) NA NA rs80339693 0.03 0.03 0.026 0.0313498 0.0467 0.0288 0.0288 0.003 0.0583 0.05 0.02 0.03 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514587 NA NA NA NA NA 0.08 NA 5.2866333 1123 13 41567564 41567564 C A intronic ELF1 NA NA NA intronic ENSG00000120690 NA NA NA Score=340;Name=lod=32 NA 13q14.11 NA NA Name=24 NA rs35073784 0.46 0.46 0.419 0.432508 0.7137 0.1696 0.6614 0.1876 0.5828 0.73 0.18 0.63 0.22 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462498 NA NA NA NA NA 0.5 NA 5.2863 1123 13 113770068 113770068 C T exonic F7 NA synonymous SNV F7:NM_001267554:exon3:c.C273T:p.H91H,F7:NM_019616:exon5:c.C459T:p.H153H,F7:NM_000131:exon6:c.C525T:p.H175H exonic ENSG00000057593 NA synonymous SNV ENSG00000057593:ENST00000541084:exon3:c.C318T:p.H106H,ENSG00000057593:ENST00000346342:exon5:c.C459T:p.H153H,ENSG00000057593:ENST00000375581:exon6:c.C525T:p.H175H NA NA 13q34 NA NA NA NA rs6042 0.1 0.1 0.123 0.145567 0.1213 0.0446 0.1282 0.1346 0.3016 0.11 0.05 0.12 0.13 0.1419 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062413 NA NA 0.117209 0.133908 ID=COSM432148;OCCURENCE=1(breast) 0.072 NA 5.2862576 1123 2 71190384 71190384 C T exonic ATP6V1B1 NA synonymous SNV ATP6V1B1:NM_001692:exon10:c.C1002T:p.R334R exonic ENSG00000116039 NA synonymous SNV ENSG00000116039:ENST00000234396:exon10:c.C1002T:p.R334R,ENSG00000116039:ENST00000412314:exon10:c.C1002T:p.R334R NA NA 2p13.3 NA NA NA NA rs2072462 0.44 0.44 0.445 0.4375 0.4622 0.6548 0.4928 0.146 0.5429 0.46 0.63 0.49 0.16 0.469 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01767 NA NA 0.449419 0.180436 NA 0.42 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037201.1;CLNDSDB=.;CLNDSDBID=. 5.2860476 1123 8 1038898 1038898 C T ncRNA_intronic ERICH1-AS1 NA NA NA ncRNA_intronic ENSG00000237647 NA NA NA Score=329;Name=lod=29 NA 8p23.3 NA NA NA NA rs7834653 0.26 0.26 0.222 0.251797 0.3807 0.0853 0.379 0.1687 0.3129 0.39 0.08 0.34 0.19 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423569 NA NA NA NA NA 0.022 NA 5.2859666 1123 1 204198209 204198209 A G exonic PLEKHA6 NA synonymous SNV PLEKHA6:NM_014935:exon19:c.T2607C:p.H869H exonic ENSG00000143850 NA synonymous SNV ENSG00000143850:ENST00000272203:exon19:c.T2607C:p.H869H,ENSG00000143850:ENST00000414478:exon19:c.T2667C:p.H889H Score=573;Name=lod=283 NA 1q32.1 NA NA NA NA rs3795571 0.52 0.52 0.519 0.51238 0.4344 0.4802 0.5389 0.6967 0.3579 0.44 0.48 0.54 0.68 0.4885 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139292 NA NA 0.457907 0.660917 NA 0.609 NA 5.2858596 1123 15 35693391 35693391 C A intronic ATPBD4 NA NA NA ncRNA_exonic ENSG00000259411 NA NA NA Score=665;Name=lod=674 NA 15q14 NA NA NA NA rs143901427 0.02 0.02 0.015 0.0129792 0.0477 NA 0.0101 0.0008 0.0092 0.05 NA 0.02 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978759 NA NA NA NA NA NA NA 5.2856333 1123 2 30381505 30381505 T C exonic YPEL5 NA synonymous SNV YPEL5:NM_016061:exon3:c.T162C:p.S54S,YPEL5:NM_001127399:exon4:c.T162C:p.S54S,YPEL5:NM_001127400:exon4:c.T162C:p.S54S,YPEL5:NM_001127401:exon5:c.T162C:p.S54S exonic ENSG00000119801 NA synonymous SNV ENSG00000119801:ENST00000261353:exon3:c.T162C:p.S54S,ENSG00000119801:ENST00000379519:exon4:c.T162C:p.S54S,ENSG00000119801:ENST00000402003:exon4:c.T162C:p.S54S,ENSG00000119801:ENST00000402708:exon4:c.T162C:p.S54S,ENSG00000119801:ENST00000379520:exon5:c.T162C:p.S54S Score=737;Name=lod=1316 NA 2p23.1 NA NA NA NA rs1137288 0.49 0.49 0.475 0.46885 0.4503 0.7401 0.4135 0.2776 0.5061 0.46 0.75 0.42 0.3 0.4619 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543642 NA NA 0.468837 0.33409 NA 0.486 NA 5.2856296 1123 6 14118138 14118138 C G intronic CD83 NA NA NA intronic ENSG00000112149 NA NA NA NA NA 6p23 NA Name=NFKB,ZBTB7A_(SC-34508),Oct-2,PAX5-N19,CTCF,TAF1,POU2F2,YY1,TCF4,Pol2,E2F6,Pol2-4H8,HA-E2F1,YY1_(C-20) Name=91 NA rs2235368 0.27 0.27 0.251 0.28155 0.2286 0.1389 0.3343 0.5234 0.1186 0.22 0.11 0.33 0.47 0.2957 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520329 NA NA 0.190179 0.446731 NA 0.297 NA 5.285521 1123 5 140773388 140773388 G T exonic PCDHGA8 NA synonymous SNV PCDHGA8:NM_014004:exon1:c.G1008T:p.S336S,PCDHGA8:NM_032088:exon1:c.G1008T:p.S336S exonic ENSG00000253767 NA synonymous SNV ENSG00000253767:ENST00000398604:exon1:c.G1008T:p.S336S NA NA 5q31.3 NA NA NA NA rs2240700 0.18 0.18 0.175 0.202077 0.1014 0.1548 0.1902 0.3169 0.2076 0.11 0.17 0.18 0.32 0.1577 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.005347 NA NA 0.122442 0.315124 NA 0.188 NA 5.2851246 1124 1 35816430 35816430 A G intronic ZMYM4 NA NA NA ncRNA_exonic ENSG00000229994 NA NA NA Score=780;Name=lod=1972 NA 1p34.3 NA NA NA NA rs1927651 0.42 0.42 0.39 0.429113 0.0487 0.7649 0.3674 0.6331 0.2423 0.04 0.8 0.33 0.62 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029371 NA NA NA NA NA 0.283 NA 5.2846333 1124 10 102008477 102008477 C T intronic CWF19L1 NA NA NA ncRNA_exonic ENSG00000230224 NA NA NA Score=783;Name=lod=2026 NA 10q24.31 NA NA NA NA rs7082884 0.08 0.08 0.07 0.0934505 0.0487 0.0615 0.0548 0.1725 0.093 0.05 0.07 0.06 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.169271 NA NA NA NA NA 0.058 NA 5.2846333 1124 3 3886847 3886847 G C exonic LRRN1 NA synonymous SNV LRRN1:NM_020873:exon2:c.G522C:p.L174L exonic ENSG00000175928 NA synonymous SNV ENSG00000175928:ENST00000319331:exon2:c.G522C:p.L174L NA NA 3p26.2 NA NA NA NA rs3749349 0.21 0.21 0.233 0.213658 0.1044 0.2679 0.147 0.295 0.2076 0.1 0.28 0.15 0.33 0.1542 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155738 NA NA 0.123605 0.236042 NA 0.217 NA 5.2844616 1124 14 21699069 21699069 A C intronic HNRNPC NA NA NA intronic ENSG00000092199 NA NA NA Score=721;Name=lod=1133 NA 14q11.2 Score=785;Name=V$SRF_01 NA NA NA rs8016099 0.22 0.22 0.206 0.226837 0.2177 0.3026 0.3285 0.0711 0.2965 0.21 0.33 0.28 0.08 0.2592 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.221988 4.221988 NA 0.238677 0.097727 NA 0.203 NA 5.284423 1124 6 2838046 2838046 A G intronic SERPINB1 NA NA NA intronic ENSG00000021355 NA NA NA NA NA 6p25.2 NA Name=HNF4A_(H-171),NRSF,Pol2 Name=10 NA rs316339 0.71 0.71 0.68 0.72524 0.7157 0.744 0.7968 0.6657 0.7454 0.71 0.73 0.78 0.62 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014735 NA NA NA NA NA 0.703 NA 5.2843 1124 6 4703918 4703918 C T intergenic ECI2,CDYL dist=568087;dist=72762 NA NA ncRNA_exonic ENSG00000217385 NA NA NA Score=845;Name=lod=3619 NA 6p25.1 NA NA Name=13 NA rs6932055 0.73 0.73 0.745 0.746805 0.7157 0.6647 0.634 0.9039 0.7311 0.7 0.67 0.65 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774001 NA NA NA NA NA 0.688 NA 5.2843 1124 15 78189544 78189544 C T intergenic LOC253044,LOC645752 dist=247963;dist=17015 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=505;Name=lod=151 NA 15q24.3 Score=944;Name=V$USF_C NA NA NA rs4335744 0.62 0.62 0.469 0.620607 0.7157 0.63 0.5605 0.6377 0.5327 0.68 0.58 0.57 0.63 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323395 NA NA NA NA NA 0.572 NA 5.2843 1124 1 16948473 16948473 C T ncRNA_intronic CROCCP2 NA NA NA ncRNA_intronic ENSG00000215908 NA NA NA Score=500;Name=lod=143 NA 1p36.13 NA NA NA NA rs446948 NA NA 0.393 0.383187 0.3837 0.3938 0.4164 0.3109 0.4458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713148 NA NA NA NA NA NA NA 5.2829666 1124 3 24001078 24001078 C T intronic NR1D2 NA NA NA intronic ENSG00000174738 NA NA NA NA NA 3p24.2 NA Name=USF-1,p300_(N-15),GR,STAT3,c-Fos,c-Jun,JunD,FOXA1_(C-20) Name=120 NA rs4321479 0.69 0.69 0.676 0.741414 0.7177 0.4931 0.8228 0.8381 0.8333 0.71 0.49 0.8 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887205 NA NA NA NA NA 0.71 NA 5.2823 1124 19 53959343 53959343 G A exonic ZNF761 NA nonsynonymous SNV ZNF761:NM_001008401:exon7:c.G1582A:p.G528S ncRNA_exonic ENSG00000160336 NA NA NA Score=265;Name=lod=16 NA 19q13.42 NA NA NA NA rs2708742 0.36 0.36 0.322 0.363419 0.3956 0.2401 0.5303 0.3306 0.3834 0.39 0.25 0.53 0.29 0.4161 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080067 NA 0.06 0.406047 0.339991 NA 0.348 NA 5.282253 1124 6 159205668 159205668 G A intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA Score=489;Name=lod=130 NA 6q25.3 NA Name=GR,Pol2-4H8,c-Jun,Pol2(b) Name=68 NA rs3103003 0.42 0.42 0.422 0.419129 0.6024 0.2054 0.3559 0.407 0.5123 0.61 0.17 0.42 0.42 0.5112 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26876 NA NA 0.604419 0.459374 NA 0.449 NA 5.281981 1124 11 117988539 117988539 G A intronic TMPRSS4 NA NA NA intronic ENSG00000137648 NA NA NA NA NA 11q23.3 NA Name=NFKB Name=5 NA rs671111 0.32 0.32 0.297 0.284345 0.3618 0.2639 0.3285 0.2489 0.2423 0.37 0.26 0.38 0.26 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70319 NA NA 0.35638 0.266618 NA 0.341 NA 5.28182 1124 16 66547767 66547767 T C intronic TK2 NA NA NA splicing ENSG00000166548 ENST00000564917:exon10:c.619-2A>G NA NA NA NA 16q21 NA NA Name=7 NA rs2241619 0.15 0.15 0.144 0.190096 0.0547 0.1468 0.1023 0.3707 0.1922 0.05 0.15 0.09 0.35 0.1296 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026265 NA NA 0.033941 0.323699 NA 0.087 NA 5.281759 1124 2 217039646 217039646 G A intronic XRCC5 NA NA NA ncRNA_exonic ENSG00000236478 NA NA NA Score=667;Name=lod=684 NA 2q35 NA NA NA NA rs72954616 0.02 0.02 0.029 0.0139776 0.0517 NA 0.0187 0.0008 0.0041 0.05 NA 0.02 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739306 NA NA NA NA NA 0.058 NA 5.2816333 1124 3 137786442 137786442 T C exonic DZIP1L NA nonsynonymous SNV DZIP1L:NM_173543:exon14:c.A1933G:p.K645E exonic ENSG00000158163 NA nonsynonymous SNV ENSG00000158163:ENST00000327532:exon14:c.A1933G:p.K645E NA NA 3q22.3 NA NA NA NA rs442800 0.58 0.58 0.53 0.553115 0.6928 0.6141 0.6902 0.2579 0.6483 0.69 0.63 0.65 0.31 0.6457 0.71 0.42 T 0.0 B 0.0 B 0.922 N 1.000 P -1.155 N 0.97 T -0.997 T 0.000 T 0.2 -1.01 0.246 1.64 -0.081 -0.239 5.710 -1.010063 NA 1 0.713256 0.359283 NA 0.551 NA 5.2815774 1124 8 144944161 144944161 C T exonic EPPK1 NA synonymous SNV EPPK1:NM_031308:exon1:c.G3261A:p.P1087P exonic ENSG00000227184 NA synonymous SNV ENSG00000227184:ENST00000525985:exon2:c.G3261A:p.P1087P NA NA 8q24.3 Score=826;Name=V$YY1_02 NA NA NA rs35221054 0.31 0.31 0.293 0.29393 0.4712 0.2391 0.4524 0.025 0.4192 0.47 0.25 0.43 0.04 0.4311 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.171531 NA NA 0.482988 0.094231 NA 0.232 NA 5.2813786 1124 5 79366249 79366249 T G intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA Name=PU.1 Name=30 NA rs256438 0.29 0.29 0.271 0.269369 0.3897 0.256 0.268 0.1974 0.2577 0.39 0.25 0.31 0.17 0.3107 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457073 NA NA 0.351628 0.214026 NA 0.283 NA 5.2813053 1124 8 104337096 104337096 A G exonic FZD6 NA synonymous SNV FZD6:NM_001164615:exon4:c.A762G:p.L254L,FZD6:NM_003506:exon4:c.A762G:p.L254L,FZD6:NM_001164616:exon5:c.A666G:p.L222L exonic ENSG00000164930 NA synonymous SNV ENSG00000164930:ENST00000358755:exon4:c.A762G:p.L254L,ENSG00000164930:ENST00000522484:exon4:c.A762G:p.L254L,ENSG00000164930:ENST00000522566:exon4:c.A762G:p.L254L,ENSG00000164930:ENST00000523739:exon5:c.A666G:p.L222L Score=497;Name=lod=139 NA 8q22.3 NA NA NA NA rs3808554 0.46 0.46 0.428 0.449081 0.4573 0.6379 0.5086 0.2988 0.407 0.45 0.6 0.49 0.28 0.462 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443995 NA NA 0.466163 0.304358 NA 0.471 NA 5.2812036 1124 5 179045142 179045142 G A intronic HNRNPH1 NA NA NA intronic ENSG00000169045 NA NA NA NA NA 5q35.3 NA Name=Pol2(b),Pol2-4H8,Pol2,Pol2(phosphoS2) Name=4 NA rs4701143 0.33 0.33 0.289 0.339257 0.1998 0.6508 0.3833 0.143 0.3957 0.19 0.67 0.37 0.11 0.2965 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779494 NA NA 0.223256 0.153654 NA 0.254 NA 5.280444 1124 8 144682004 144682004 C T UTR3 TIGD5 NM_032862:c.*2C>T NA NA UTR3 ENSG00000179886 ENST00000321385:c.*2C>T,ENST00000504548:c.*2C>T NA NA NA NA 8q24.3 Score=844;Name=V$PAX3_01 NA NA NA rs111956838 0.01 0.01 0.01 0.0071885 0.0199 NA 0.0144 0.0015 0.0041 0.02 NA 0.01 0.002 0.0136 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.635577 2.635577 NA 0.01952 0.004155 NA 0.007 NA 5.2803134 1124 9 140262426 140262426 C T exonic EXD3 NA nonsynonymous SNV EXD3:NM_017820:exon6:c.G478A:p.A160T exonic ENSG00000187609 NA nonsynonymous SNV ENSG00000187609:ENST00000340951:exon6:c.G478A:p.A160T,ENSG00000187609:ENST00000479452:exon6:c.G478A:p.A160T NA NA 9q34.3 NA NA NA NA rs11533158 0.69 0.69 0.695 0.70607 0.659 0.8522 0.7089 0.5356 0.8323 0.67 0.86 0.72 0.52 0.6977 0.86 1 T 0.002 B 0.0 B 0.143 N 0.998 P -1.78 N 1.61 T -1.000 T 0.000 T 0.016 -0.448 1.921 -1.53 -0.453 0.014 2.520 -0.44839 NA 1 0.696908 0.549098 ID=COSM1461396,COSM1461395;OCCURENCE=1(large_intestine) 0.529 NA 5.2797254 1124 4 113747608 113747608 G A intronic ANK2 NA NA NA ncRNA_exonic ENSG00000234841 NA NA NA Score=304;Name=lod=23 NA 4q25 NA NA NA NA rs17045022 0.08 0.08 0.081 0.0944489 0.0537 0.0288 0.0504 0.2012 0.091 0.04 0.03 0.05 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594044 NA NA NA NA NA 0.051 NA 5.2796333 1124 11 64981853 64981853 G T exonic SLC22A20 NA nonsynonymous SNV SLC22A20:NM_001004326:exon2:c.G438T:p.M146I ncRNA_exonic ENSG00000197847 NA NA NA Score=483;Name=lod=123 NA 11q13.1 NA NA NA NA rs239259 0.33 0.33 0.306 0.297324 0.4115 0.3889 0.268 0.1082 0.362 0.42 0.4 0.33 0.12 0.3821 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796591 NA 0 0.426949 0.151225 ID=COSM429603,COSM429602;OCCURENCE=2(breast) 0.254 NA 5.279451 1124 16 5140561 5140561 C T exonic FAM86A NA synonymous SNV FAM86A:NM_201598:exon4:c.G246A:p.S82S,FAM86A:NM_201400:exon5:c.G348A:p.S116S exonic ENSG00000118894 NA synonymous SNV ENSG00000118894:ENST00000587133:exon3:c.G165A:p.S55S,ENSG00000118894:ENST00000458008:exon4:c.G246A:p.S82S,ENSG00000118894:ENST00000427587:exon5:c.G348A:p.S116S NA NA 16p13.3 NA NA NA NA rs9673770 0.12 0.12 0.115 0.0916534 0.1402 0.128 0.17 0.0242 0.0399 0.15 0.14 0.15 0.04 0.1213 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159 NA NA 0.126047 0.031406 ID=COSM435376;OCCURENCE=1(breast) 0.043 NA 5.2791196 1124 12 11183191 11183191 T C exonic TAS2R31 NA synonymous SNV TAS2R31:NM_176885:exon1:c.A744G:p.S248S exonic ENSG00000256436 NA synonymous SNV ENSG00000256436:ENST00000390675:exon1:c.A744G:p.S248S NA NA 12p13.2 NA NA NA NA rs116737741 0.08 0.08 0.082 0.0826677 0.1203 0.002 0.085 0.0847 0.1227 0.12 0.0017 0.07 0.1 0.1144 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506749 NA NA 0.152969 0.104195 NA 0.123 NA 5.2789976 1124 4 113747708 113747708 C T intronic ANK2 NA NA NA ncRNA_exonic ENSG00000234841 NA NA NA NA NA 4q25 NA NA Name=5 NA rs28477884 0.11 0.11 0.111 0.135583 0.0547 0.0308 0.0562 0.3517 0.091 0.04 0.03 0.06 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325005 NA NA NA NA NA 0.065 NA 5.2786333 1124 19 4659924 4659924 C T intronic C19orf10 NA NA NA exonic ENSG00000074842 NA stopgain ENSG00000074842:ENST00000599630:exon5:c.G461A:p.W154X NA NA 19p13.3 NA NA NA NA rs72620522 0.08 0.08 0.081 0.08127 0.0746 0.0516 0.0519 0.1339 0.0685 0.08 0.05 0.05 0.12 0.0774 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437166 NA NA 0.069419 0.121425 NA 0.08 NA 5.278581 1124 14 21388266 21388266 G C ncRNA_exonic ECRP NA NA NA ncRNA_exonic ENSG00000136315 NA NA NA Score=284;Name=lod=19 NA 14q11.2 Score=685;Name=V$PPARG_02 NA NA NA rs3748340 0.58 0.58 0.549 0.557508 0.7068 0.5119 0.7882 0.261 0.6881 0.7 0.56 0.76 0.28 0.6813 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164154 NA 0.12 NA NA NA 0.58 NA 5.2785666 1124 2 121741811 121741811 C T intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA Name=CTCF Name=2 NA rs3820720 0.56 0.56 0.555 0.508586 0.7217 0.4802 0.5951 0.348 0.4744 0.71 0.51 0.59 0.34 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029984 NA NA NA NA NA 0.594 NA 5.2783 1124 2 121741843 121741843 A G intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA Name=CTCF Name=2 NA rs3820719 0.56 0.56 0.584 0.510383 0.7217 0.4901 0.5937 0.348 0.4744 0.72 0.52 0.6 0.34 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39992 NA NA NA NA NA 0.594 NA 5.2783 1124 19 35800720 35800720 G C intronic MAG NA NA NA intronic ENSG00000105695 NA NA NA NA NA 19q13.12 NA Name=E2F6,HA-E2F1 Name=43 NA rs10411883 0.81 0.81 0.824 0.847644 0.7217 0.8026 0.8098 0.9849 0.865 0.72 0.81 0.76 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080824 NA NA NA NA NA 0.906 NA 5.2783 1124 1 217804635 217804635 T C upstream GPATCH2,SPATA17 NA NA NA upstream ENSG00000092978,ENSG00000162814 NA NA NA NA NA 1q41 NA Name=p300,TBP,c-Myc,Max,HEY1,SIX5,Mxi1_(bHLH),RFX5_(N-494),Pol2,YY1,YY1_(C-20),BRCA1_(C-1863),Sin3Ak-20,USF1_(SC-8983),TAF1,Pol2(b),JunD,ELK4,FOXA1_(C-20) Name=148 NA rs34121469 0.24 0.24 0.228 0.23762 0.3887 0.0962 0.2075 0.23 0.2597 0.42 0.08 0.22 0.19 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545307 NA NA NA NA NA 0.297 NA 5.2779666 1124 2 89309554 89309554 T A intergenic MIR4436A,NONE dist=197586;dist=NONE NA NA exonic ENSG00000241755 NA nonsynonymous SNV ENSG00000241755:ENST00000493819:exon2:c.A276T:p.E92D Score=472;Name=lod=110 NA 2p11.2 NA NA NA NA rs147109427 0.23 0.23 0.092 0.265775 0.163 0.4038 0.2767 0.1868 0.3282 0.14 0.4 0.22 0.16 0.2224 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.000244 NA 1 0.170187 0.176647 ID=COSN229350,COSN166176;OCCURENCE=1(skin),1(breast) 0.101 NA 5.2777464 1124 13 103498545 103498545 C T UTR5 ERCC5 NM_000123:c.-72C>T NA NA UTR5 ENSG00000134899 ENST00000355739:c.-72C>T,ENST00000535557:c.-72C>T,ENST00000472151:c.-72C>T NA NA NA NA 13q33.1 NA Name=Pol2-4H8,HEY1,Pol2,TAF1 NA NA rs2296148 0.08 0.08 0.084 0.0710863 0.0557 0.0496 0.0346 0.1301 0.0552 0.06 0.06 0.04 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.256995 1.256995 NA NA NA NA 0.051 NA 5.2776334 1124 19 53793798 53793798 C T UTR5 BIRC8 NM_033341:c.-171G>A NA NA UTR5 ENSG00000163098 ENST00000426466:c.-171G>A NA NA Score=540;Name=lod=208 NA 19q13.42 NA NA NA NA rs12609478 0.1 0.1 0.108 0.107628 0.0557 0.1468 0.0403 0.1422 0.1217 0.05 0.16 0.05 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.446377 1.446377 NA NA NA ID=COSN165930;OCCURENCE=1(breast) 0.138 NA 5.2776334 1124 3 156705971 156705971 C G intronic LEKR1 NA NA NA ncRNA_exonic ENSG00000239706 NA NA NA Score=405;Name=lod=59 NA 3q25.31 NA NA NA NA rs1482850 0.04 0.04 0.037 0.0391374 0.0557 0.002 0.0403 0.0764 0.0092 0.05 0.0017 0.04 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245793 NA NA NA NA NA 0.043 NA 5.2776333 1124 11 77734209 77734209 T C exonic KCTD14 NA synonymous SNV KCTD14:NM_023930:exon1:c.A87G:p.P29P exonic ENSG00000151364 NA synonymous SNV ENSG00000151364:ENST00000353172:exon1:c.A87G:p.P29P NA NA 11q14.1 NA Name=Pol2-4H8,HEY1,Pol2,TAF1,ELF1_(SC-631) Name=37 NA rs11237362 0.69 0.69 0.628 0.689696 0.8002 0.5694 0.8127 0.5393 0.816 0.79 0.57 0.82 0.56 0.7685 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409688 NA NA 0.820503 0.596717 ID=COSM429906;OCCURENCE=1(breast) 0.732 NA 5.2774636 1124 16 33500591 33500591 G C ncRNA_intronic RNU6-76P NA NA NA ncRNA_exonic ENSG00000260518 NA NA NA Score=671;Name=lod=712 NA 16p11.2 NA NA NA NA rs28534544 NA NA 0.36 0.423522 0.3897 0.3968 0.3084 0.4947 0.4714 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.860962 NA NA NA NA NA 0.007 NA 5.2769666 1124 19 55143156 55143156 T C exonic LILRB1 NA synonymous SNV LILRB1:NM_001081637:exon4:c.T276C:p.H92H,LILRB1:NM_001081638:exon4:c.T276C:p.H92H,LILRB1:NM_001081639:exon4:c.T276C:p.H92H,LILRB1:NM_006669:exon5:c.T276C:p.H92H exonic ENSG00000104972 NA synonymous SNV ENSG00000104972:ENST00000396315:exon3:c.T276C:p.H92H,ENSG00000104972:ENST00000396317:exon3:c.T276C:p.H92H,ENSG00000104972:ENST00000396321:exon3:c.T276C:p.H92H,ENSG00000104972:ENST00000418536:exon3:c.T276C:p.H92H,ENSG00000104972:ENST00000421584:exon3:c.T276C:p.H92H,ENSG00000104972:ENST00000427581:exon3:c.T384C:p.H128H,ENSG00000104972:ENST00000448689:exon3:c.T276C:p.H92H,ENSG00000104972:ENST00000324602:exon4:c.T276C:p.H92H,ENSG00000104972:ENST00000396327:exon4:c.T276C:p.H92H,ENSG00000104972:ENST00000396332:exon4:c.T276C:p.H92H,ENSG00000104972:ENST00000434867:exon4:c.T276C:p.H92H,ENSG00000104972:ENST00000396331:exon5:c.T276C:p.H92H NA NA 19q13.42 NA NA NA NA rs12462774 0.17 0.17 0.113 0.213858 0.1312 0.505 0.232 0.0575 0.1973 0.09 0.4 0.16 0.04 0.188 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261763 NA NA 0.070698 0.032456 NA NA NA 5.2767686 1124 2 197880683 197880683 A G intronic ANKRD44 NA NA NA ncRNA_exonic ENSG00000225636 NA NA NA Score=662;Name=lod=652 NA 2q33.1 NA NA NA NA rs76468065 0.06 0.06 0.071 0.0660942 0.0567 0.002 0.036 0.1762 0.0143 0.05 0.0017 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214132 NA NA NA NA NA 0.08 NA 5.2766333 1124 8 93029605 93029605 C T UTR5 RUNX1T1 NM_175636:c.-37G>A NA NA UTR5;UTR3 ENSG00000079102;ENSG00000079102 ENST00000422361:c.-37G>A,ENST00000520556:c.-37G>A,ENST00000521319:c.-37G>A;ENST00000519577:c.*32G>A,ENST00000521897:c.*32G>A,ENST00000519422:c.*32G>A,ENST00000521902:c.*32G>A NA NA Score=662;Name=lod=651 NA 8q21.3 NA NA NA NA rs141395157 0.01 0.01 0.008 0.0125799 0.0268 NA 0.0101 0.0015 0.0276 0.03 NA 0.01 0.002 0.0151 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.849059 2.849059 NA 0.015233 0.001362 NA NA NA 5.2762004 1124 7 16834597 16834597 A G exonic AGR2 NA synonymous SNV AGR2:NM_006408:exon7:c.T441C:p.N147N exonic ENSG00000106541 NA synonymous SNV ENSG00000106541:ENST00000450569:exon4:c.T231C:p.N77N,ENSG00000106541:ENST00000401412:exon7:c.T441C:p.N147N,ENSG00000106541:ENST00000419304:exon7:c.T441C:p.N147N,ENSG00000106541:ENST00000419572:exon7:c.T501C:p.N167N Score=497;Name=lod=139 NA 7p21.1 NA NA NA NA rs6842 0.36 0.36 0.312 0.335463 0.4672 0.2976 0.4957 0.1051 0.4366 0.47 0.32 0.5 0.11 0.4275 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.464923 1.464923 NA 0.49686 0.166364 NA 0.261 NA 5.2751066 1125 5 180626030 180626030 G A intronic TRIM7 NA NA NA ncRNA_intronic ENSG00000250900 NA NA NA NA NA 5q35.3 NA NA Name=3 NA rs79848802 0.12 0.12 0.116 0.11222 0.0318 0.2907 0.0648 0.0719 0.0992 0.03 0.31 0.05 0.08 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805025 NA NA 0.027027 0.065751 NA 0.087 NA 5.2745063 1125 16 88705804 88705804 T C intronic IL17C NA NA NA intronic ENSG00000124391 NA NA NA NA NA 16q24.3 NA Name=ZEB1_(SC-25388),HA-E2F1 Name=12 NA rs2254073 0.76 0.76 0.745 0.775958 0.7256 0.7996 0.7133 0.8116 0.7996 0.71 0.8 0.73 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210876 NA NA NA NA NA 0.754 NA 5.2744 1125 20 48574051 48574051 A G intergenic RNF114,SNAI1 dist=3629;dist=25462 NA NA ncRNA_exonic ENSG00000229222 NA NA NA Score=540;Name=lod=209 NA 20q13.13 NA NA Name=17 NA rs6067283 0.65 0.65 0.599 0.639776 0.7256 0.7639 0.7075 0.3351 0.7873 0.72 0.79 0.7 0.35 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156569 NA NA NA NA NA 0.565 NA 5.2744 1125 1 113063125 113063125 A G exonic WNT2B NA synonymous SNV WNT2B:NM_024494:exon5:c.A1170G:p.Q390Q,WNT2B:NM_004185:exon6:c.A1113G:p.Q371Q exonic ENSG00000134245 NA synonymous SNV ENSG00000134245:ENST00000256640:exon5:c.A894G:p.Q298Q,ENSG00000134245:ENST00000369684:exon5:c.A1170G:p.Q390Q,ENSG00000134245:ENST00000369686:exon6:c.A1113G:p.Q371Q Score=742;Name=lod=1382 NA 1p13.2 NA NA NA NA rs910697 0.52 0.52 0.508 0.483427 0.4612 0.6151 0.4438 0.5371 0.3262 0.47 0.64 0.44 0.53 0.4752 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719849 NA NA 0.45593 0.514526 NA 0.457 NA 5.2743366 1125 17 7843053 7843053 C T exonic CNTROB NA synonymous SNV CNTROB:NM_001037144:exon8:c.C1150T:p.L384L,CNTROB:NM_053051:exon8:c.C1150T:p.L384L exonic ENSG00000170037 NA synonymous SNV ENSG00000170037:ENST00000380255:exon8:c.C1150T:p.L384L,ENSG00000170037:ENST00000380262:exon8:c.C1150T:p.L384L,ENSG00000170037:ENST00000563694:exon8:c.C1150T:p.L384L,ENSG00000170037:ENST00000565740:exon8:c.C1150T:p.L384L NA NA 17p13.1 Score=975;Name=V$AP4_Q6 NA NA NA rs11078719 0.55 0.55 0.52 0.594848 0.4274 0.8016 0.6398 0.4433 0.727 0.44 0.74 0.57 0.47 0.5297 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.198565 NA NA 0.435566 0.463913 NA 0.522 NA 5.2740006 1125 6 29913386 29913386 C G UTR3 HLA-A NM_001242758:c.*154C>G,NM_002116:c.*154C>G NA NA UTR3 ENSG00000206503 ENST00000396634:c.*154C>G,ENST00000376806:c.*154C>G,ENST00000376809:c.*154C>G,ENST00000376802:c.*154C>G NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs41545022 0.08 0.08 0.049 0.101837 0.0596 0.2629 0.0403 0.0008 0.1595 0.06 0.22 0.04 0.002 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180545 NA NA NA NA NA 0.087 NA 5.2737334 1125 19 1073409 1073409 C G intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA Name=GABP,Pol2,TAL1_(SC-12984),CCNT2,ZBTB7A_(SC-34508) Name=6 NA rs2074441 0.78 0.78 0.782 0.773363 0.7266 0.6409 0.8386 0.9455 0.6789 0.73 0.69 0.81 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103006 NA NA NA NA NA 0.804 NA 5.2734 1125 1 232607094 232607094 T C intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA Name=c-Fos,STAT3 Name=18 NA rs12116822 0.23 0.23 0.218 0.252196 0.2306 0.1647 0.3963 0.2224 0.3027 0.22 0.16 0.37 0.23 0.2558 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06113 NA NA 0.240308 0.243921 NA 0.333 NA 5.273292 1125 12 51735022 51735022 A T intronic CELA1 NA NA NA intronic ENSG00000139610 NA NA NA Score=405;Name=lod=59 NA 12q13.13 NA Name=CTCF Name=145 NA rs934089 0.49 0.49 0.502 0.494609 0.5934 0.4117 0.4669 0.3691 0.6677 0.61 0.45 0.48 0.38 0.5571 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.825883 2.825883 NA 0.576744 0.4133 NA 0.493 NA 5.272756 1125 16 69362777 69362777 T A UTR3 COG8,PDF NM_032382:c.*332A>T;NM_022341:c.*148A>T NA NA UTR3 ENSG00000213380,ENSG00000258429 ENST00000306875:c.*332A>T,ENST00000562949:c.*162A>T;ENST00000288022:c.*148A>T NA NA NA NA 16q22.1 NA NA Name=99 NA rs1055401 0.05 0.05 0.035 0.0644968 0.0606 0.0417 0.0432 0.0257 0.1595 0.06 0.04 0.06 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.967947 1.967947 NA NA NA NA NA NA 5.2727334 1125 16 69362779 69362779 C A UTR3 COG8,PDF NM_032382:c.*330G>T;NM_022341:c.*146G>T NA NA UTR3 ENSG00000213380,ENSG00000258429 ENST00000306875:c.*330G>T,ENST00000562949:c.*160G>T;ENST00000288022:c.*146G>T NA NA NA NA 16q22.1 NA NA Name=99 NA rs1055399 0.05 0.05 0.035 0.0644968 0.0606 0.0417 0.0432 0.0257 0.1595 0.06 0.04 0.06 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.747104 1.747104 NA NA NA NA NA NA 5.2727334 1125 21 46047633 46047633 A G exonic KRTAP10-9 NA nonsynonymous SNV KRTAP10-9:NM_198690:exon1:c.A545G:p.Y182C exonic ENSG00000221837 NA nonsynonymous SNV ENSG00000221837:ENST00000397911:exon1:c.A545G:p.Y182C NA NA 21q22.3 NA NA NA NA rs8127342 0.64 0.64 0.612 0.637181 0.7167 0.6667 0.6772 0.5219 0.6524 0.71 0.64 0.68 0.53 0.6687 0.71 . . 0.0 B 0.0 B . . 0.999 P -4.235 N 5.72 T -0.979 T 0.000 T 0.042 -2.838 0 1.28 0.092 0.351 6.709 -2.83791 NA 1 0.675581 0.532002 NA 0.058 NA 5.2723524 1125 7 43988188 43988188 C T ncRNA_intronic POLR2J4 NA NA NA ncRNA_intronic ENSG00000214783 NA NA NA NA NA 7p13 Score=814;Name=V$CDPCR3_01 NA NA NA rs62458690 0.12 0.12 0.105 0.0988419 0.1402 0.0615 0.1643 0.0908 0.0593 0.15 0.08 0.15 0.1 0.1303 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935582 NA NA 0.124302 0.108488 ID=COSN168033;OCCURENCE=1(large_intestine) 0.109 NA 5.2718646 1125 1 29345027 29345027 T G intronic EPB41 NA NA NA intronic ENSG00000159023 NA NA NA NA NA 1p35.3 Score=959;Name=V$SOX5_01 Name=FOXA1_(C-20) NA NA rs2985334 0.83 0.83 0.821 0.851637 0.7286 0.9256 0.8415 0.8752 0.8773 0.74 0.94 0.82 0.85 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.368808 1.368808 NA NA NA NA 0.812 NA 5.2714 1125 15 101567547 101567547 G C exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon18:c.G2487C:p.V829V exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000388948:exon18:c.G2487C:p.V829V,ENSG00000154237:ENST00000284395:exon19:c.G2478C:p.V826V NA NA 15q26.3 NA NA NA NA rs41319544 0.09 0.09 0.081 0.0878594 0.1322 0.0278 0.0749 0.0938 0.1053 0.13 0.02 0.1 0.08 0.1154 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014323 NA NA 0.147847 0.091134 NA 0.065 NA 5.2712196 1125 11 68851466 68851466 G T exonic TPCN2 NA synonymous SNV TPCN2:NM_139075:exon19:c.G1743T:p.A581A exonic ENSG00000162341 NA synonymous SNV ENSG00000162341:ENST00000294309:exon19:c.G1743T:p.A581A NA NA 11q13.3 Score=796;Name=V$CMYB_01 NA NA NA rs896973 0.38 0.38 0.378 0.333466 0.4831 0.2867 0.3285 0.357 0.1994 0.46 0.28 0.36 0.37 0.4139 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148208 NA NA 0.498486 0.383636 NA 0.341 NA 5.2711806 1125 12 11138935 11138935 T C exonic TAS2R50 NA synonymous SNV TAS2R50:NM_176890:exon1:c.A525G:p.S175S exonic ENSG00000212126 NA synonymous SNV ENSG00000212126:ENST00000506868:exon1:c.A525G:p.S175S NA NA 12p13.2 NA NA NA NA rs66679979 0.09 0.09 0.105 0.0984425 0.1252 0.002 0.0908 0.1346 0.1268 0.12 0.0017 0.07 0.18 0.1182 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254223 NA NA 0.152209 0.143214 NA 0.159 NA 5.2710576 1125 6 168457966 168457966 G A exonic FRMD1 NA synonymous SNV FRMD1:NM_001122841:exon11:c.C1257T:p.D419D,FRMD1:NM_024919:exon11:c.C1461T:p.D487D exonic ENSG00000153303 NA synonymous SNV ENSG00000153303:ENST00000537786:exon10:c.C774T:p.D258D,ENSG00000153303:ENST00000283309:exon11:c.C1461T:p.D487D,ENSG00000153303:ENST00000440994:exon11:c.C1257T:p.D419D Score=321;Name=lod=27 NA 6q27 NA NA NA NA rs3734899 0.39 0.39 0.369 0.395567 0.493 0.4871 0.353 0.1074 0.6207 0.5 0.47 0.38 0.13 0.4466 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089598 NA NA 0.456279 0.169315 NA 0.275 NA 5.2707876 1125 16 72025099 72025099 C T intronic PKD1L3 NA NA NA ncRNA_exonic ENSG00000242176 NA NA NA Score=493;Name=lod=135 NA 16q22.2 NA NA NA NA rs74647029 0.03 0.03 0.025 0.0261581 0.0626 NA 0.0231 0.0015 0.0511 0.07 NA 0.02 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113657 NA NA NA NA NA 0.014 NA 5.2707333 1125 1 54375701 54375701 C T UTR3 DIO1 NM_000792:c.*29C>T,NM_001039716:c.*93C>T,NM_001039715:c.*29C>T,NM_213593:c.*29C>T NA NA UTR3 ENSG00000211452 ENST00000361921:c.*29C>T,ENST00000322679:c.*93C>T,ENST00000527060:c.*519C>T,ENST00000525044:c.*221C>T,ENST00000528946:c.*157C>T,ENST00000530084:c.*421C>T NA NA NA NA 1p32.3 NA Name=FOSL2 Name=50 NA rs11206244 0.29 0.29 0.239 0.3125 0.3678 0.1468 0.5173 0.1589 0.4888 0.38 0.15 0.48 0.16 0.354 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.577811 2.577811 NA 0.340814 0.218112 NA 0.355 NA 5.2707194 1125 7 150709571 150709571 G T UTR3 ATG9B NM_173681:c.*1452C>A NA NA UTR3 ENSG00000181652 ENST00000605938:c.*1880C>A,ENST00000444312:c.*1452C>A,ENST00000377974:c.*1452C>A NA NA NA NA 7q36.1 NA Name=HNF4G_(SC-6558),ELF1_(SC-631),RXRA,HEY1,HDAC2_(SC-6296) Name=11 NA rs7830 0.36 0.36 0.304 0.361821 0.3499 0.4117 0.5187 0.1936 0.4387 0.36 0.46 0.49 0.17 0.3779 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.524699 NA NA 0.335 0.197548 NA 0.312 NA 5.2705334 1125 20 33584289 33584289 C T exonic MYH7B NA synonymous SNV MYH7B:NM_020884:exon29:c.C3210T:p.T1070T exonic ENSG00000078814 NA synonymous SNV ENSG00000078814:ENST00000262873:exon27:c.C3210T:p.T1070T Score=578;Name=lod=297 NA 20q11.22 NA NA NA NA rs3746438 0.48 0.48 0.426 0.439497 0.495 0.5893 0.6326 0.2738 0.3149 0.48 0.61 0.57 0.26 0.4588 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.280575 1.280575 NA 0.442375 0.316901 NA 0.326 NA 5.2704916 1125 16 21008690 21008690 T C exonic DNAH3 NA synonymous SNV DNAH3:NM_017539:exon44:c.A6516G:p.K2172K exonic ENSG00000158486 NA synonymous SNV ENSG00000158486:ENST00000261383:exon44:c.A6516G:p.K2172K Score=528;Name=lod=187 NA 16p12.3 NA NA NA NA rs3115446 0.49 0.49 0.468 0.540136 0.4543 0.4851 0.5259 0.5976 0.6176 0.44 0.47 0.49 0.61 0.4959 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.357701 1.357701 NA 0.446628 0.591776 NA 0.507 NA 5.2698386 1125 2 219252377 219252377 C T intronic SLC11A1 NA NA NA intronic ENSG00000018280 NA NA NA NA NA 2q35 NA Name=SP1,KAP1,HNF4A_(H-171),FOXA1_(C-20),p300,ELF1_(SC-631),FOXA1_(SC-101058),HNF4G_(SC-6558) Name=125 NA rs2290708 0.16 0.16 0.156 0.147963 0.2505 0.0813 0.183 0.1165 0.1288 0.23 0.09 0.18 0.12 0.2143 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290722 NA NA 0.265465 0.129369 NA 0.159 NA 5.269735 1125 11 130166094 130166094 T C intronic ZBTB44 NA NA NA ncRNA_exonic ENSG00000255220 NA NA NA Score=811;Name=lod=2623 NA 11q24.3 NA NA NA NA rs111336767 0.03 0.03 0.029 0.0169728 0.0636 NA 0.0216 0.0015 0.0041 0.08 NA 0.02 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550015 NA NA NA NA NA 0.022 NA 5.2697333 1125 17 8464830 8464830 G A intronic MYH10 NA NA NA ncRNA_exonic ENSG00000244604 NA NA NA Score=705;Name=lod=979 NA 17p13.1 NA NA NA NA rs62062489 0.04 0.04 0.027 0.0425319 0.0636 0.0188 0.036 0.0023 0.1043 0.07 0.02 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950534 NA NA NA NA NA 0.022 NA 5.2697333 1125 19 53959568 53959568 G C exonic ZNF761 NA nonsynonymous SNV ZNF761:NM_001008401:exon7:c.G1807C:p.E603Q ncRNA_exonic ENSG00000160336 NA NA NA Score=419;Name=lod=67 NA 19q13.42 NA NA NA NA rs2617726 0.37 0.37 0.318 0.386581 0.3986 0.2401 0.5346 0.3964 0.407 0.4 0.25 0.54 0.36 0.4253 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643604 NA 0.09 0.406468 0.40286 ID=COSM1564248;OCCURENCE=1(large_intestine) 0.37 NA 5.269632 1125 12 56825311 56825311 C T exonic TIMELESS NA synonymous SNV TIMELESS:NM_003920:exon8:c.G765A:p.V255V exonic ENSG00000111602 NA synonymous SNV ENSG00000111602:ENST00000229201:exon8:c.G762A:p.V254V,ENSG00000111602:ENST00000553532:exon8:c.G765A:p.V255V,ENSG00000111602:ENST00000554616:exon8:c.G765A:p.V255V Score=570;Name=lod=276 NA 12q13.3 NA NA NA NA rs774033 0.49 0.49 0.432 0.504193 0.4503 0.7371 0.6816 0.2526 0.5337 0.45 0.7 0.61 0.23 0.4925 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016843 NA NA 0.454302 0.269859 NA 0.5 NA 5.2695646 1125 2 10264057 10264057 T C intronic RRM2 NA NA NA intronic ENSG00000171848 NA NA NA NA NA 2p25.1 NA Name=STAT3,TBP Name=134 NA rs6432065 0.66 0.66 0.694 0.65635 0.7306 0.3363 0.5648 0.9592 0.5654 0.72 0.35 0.6 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128358 NA NA NA NA NA 0.739 NA 5.2694 1125 18 21404334 21404334 A G intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(C-20) Name=15 NA rs1941521 0.75 0.75 0.734 0.720447 0.7306 0.8065 0.7839 0.6604 0.6575 0.72 0.82 0.77 0.69 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.837634 1.837634 NA NA NA NA 0.725 NA 5.2694 1125 11 16848077 16848077 G A exonic PLEKHA7 NA synonymous SNV PLEKHA7:NM_175058:exon10:c.C933T:p.H311H exonic ENSG00000166689 NA synonymous SNV ENSG00000166689:ENST00000355661:exon10:c.C933T:p.H311H,ENSG00000166689:ENST00000448080:exon10:c.C933T:p.H311H,ENSG00000166689:ENST00000531066:exon10:c.C933T:p.H311H NA NA 11p15.1 NA NA NA NA rs390974 0.18 0.18 0.201 0.194289 0.1352 0.1617 0.2032 0.3079 0.1288 0.12 0.17 0.19 0.26 0.1421 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.344033 NA NA 0.120051 0.265682 NA 0.232 NA 5.2693156 1125 7 35221053 35221053 A G ncRNA_exonic DPY19L2P1 NA NA NA ncRNA_exonic ENSG00000189212 NA NA NA Score=621;Name=lod=447 NA 7p14.2 NA NA NA NA rs6950920 0.32 0.32 0.275 0.306709 0.3976 0.1984 0.2767 0.3079 0.3446 0.4 0.21 0.3 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.536558 2.536558 NA NA NA NA 0.341 NA 5.2690666 1125 4 96256616 96256616 A G exonic UNC5C NA synonymous SNV UNC5C:NM_003728:exon2:c.T291C:p.S97S exonic ENSG00000182168 NA synonymous SNV ENSG00000182168:ENST00000453304:exon2:c.T291C:p.S97S,ENSG00000182168:ENST00000504962:exon2:c.T291C:p.S97S,ENSG00000182168:ENST00000506749:exon2:c.T291C:p.S97S,ENSG00000182168:ENST00000513796:exon2:c.T291C:p.S97S Score=655;Name=lod=614 NA 4q22.3 NA NA NA NA rs4699423 0.5 0.5 0.469 0.478634 0.4573 0.8343 0.5418 0.1324 0.5573 0.48 0.84 0.52 0.14 0.4832 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.328977 1.328977 NA 0.457432 0.183613 NA 0.384 NA 5.2687346 1125 5 96098749 96098749 G T UTR3 ERAP1 NM_016442:c.*155C>A NA NA UTR3 ENSG00000164307 ENST00000296754:c.*155C>A NA NA NA NA 5q15 NA Name=GATA-2,TCF4 NA NA rs76641636 0.04 0.04 0.04 0.0511182 0.0646 0.0228 0.0418 0.0151 0.1217 0.05 0.03 0.05 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714416 NA NA NA NA NA 0.022 NA 5.2687334 1125 1 156884365 156884365 T C intronic PEAR1 NA NA NA intronic ENSG00000187800 NA NA NA NA NA 1q23.1 NA Name=GATA2_(CG2-96),IRF1,TBP,ZBTB7A_(SC-34508),CCNT2,Egr-1,NRSF,SP1,ZNF263,eGFP-JunD,c-Jun,GATA-1,TAL1_(SC-12984) Name=60 NA rs749256 0.88 0.88 0.882 0.910343 0.7316 1 0.8602 0.9705 0.956 0.74 1 0.83 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313837 NA NA NA NA NA 0.804 NA 5.2684 1125 5 132160057 132160057 C T exonic SHROOM1 NA synonymous SNV SHROOM1:NM_133456:exon4:c.G1296A:p.Q432Q,SHROOM1:NM_001172700:exon7:c.G1296A:p.Q432Q exonic ENSG00000164403 NA synonymous SNV ENSG00000164403:ENST00000378676:exon3:c.G1089A:p.Q363Q,ENSG00000164403:ENST00000319854:exon4:c.G1296A:p.Q432Q,ENSG00000164403:ENST00000378679:exon7:c.G1296A:p.Q432Q NA NA 5q31.1 NA NA NA NA rs35534543 0.1 0.1 0.077 0.10623 0.1203 0.1171 0.0793 0.0416 0.1871 0.12 0.12 0.09 0.04 0.1385 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.417859 NA NA 0.139535 0.050159 NA 0.145 NA 5.2683316 1125 11 102576358 102576358 T C exonic MMP27 NA nonsynonymous SNV MMP27:NM_022122:exon1:c.A88G:p.M30V exonic ENSG00000137675 NA nonsynonymous SNV ENSG00000137675:ENST00000260229:exon1:c.A88G:p.M30V NA NA 11q22.2 NA NA NA NA rs2846707 0.79 0.79 0.787 0.815895 0.6799 0.8839 0.7233 0.9213 0.8088 0.65 0.89 0.75 0.92 0.7258 0.92 0.91 T 0.002 B 0.012 B 0.022 N 1.000 P 0.47 N 2.2 T -0.988 T 0.000 T 0.026 -1.768 0.01 0.184 -0.282 -0.323 7.201 -1.767913 NA 0.46 0.659805 0.872901 NA 0.855 NA 5.2678284 1125 16 2647876 2647876 C T UTR3 PDPK1 NM_002613:c.*108C>T,NM_001261816:c.*203C>T,NM_031268:c.*108C>T NA NA UTR3 ENSG00000140992 ENST00000342085:c.*108C>T,ENST00000441549:c.*203C>T,ENST00000268673:c.*108C>T,ENST00000354836:c.*108C>T,ENST00000389224:c.*108C>T NA NA Score=531;Name=lod=191 NA 16p13.3 NA NA NA NA rs10866 0.03 0.03 0.018 0.0275559 0.0656 0.003 0.0331 0.0015 0.045 0.07 0.0017 0.04 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.672818 1.672818 NA NA NA NA 0.014 NA 5.2677334 1125 16 78389590 78389590 C T intronic WWOX NA NA NA ncRNA_exonic ENSG00000260014 NA NA NA Score=643;Name=lod=549 NA 16q23.1 NA NA NA NA rs76286129 0.08 0.08 0.063 0.0740815 0.0656 0.1667 0.0634 0.003 0.091 0.06 0.17 0.06 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039606 NA NA NA NA NA 0.065 NA 5.2677333 1125 16 78389699 78389699 T G intronic WWOX NA NA NA ncRNA_exonic ENSG00000260014 NA NA NA Score=643;Name=lod=549 NA 16q23.1 NA NA NA NA rs72794061 0.08 0.08 0.065 0.0748802 0.0656 0.1716 0.0634 0.0023 0.091 0.06 0.18 0.06 0.01 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417869 NA NA NA NA NA 0.08 NA 5.2677333 1125 5 9380110 9380110 T C UTR5 SEMA5A NM_003966:c.-52A>G NA NA ncRNA_UTR5 ENSG00000112902 NA NA NA Score=385;Name=lod=49 NA 5p15.31 NA NA NA NA rs1805243 0.05 0.05 0.045 0.0547125 0.0815 0.0188 0.0461 0.0159 0.1227 0.08 0.01 0.06 0.03 0.0699 0.082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.727094 1.727094 NA 0.081637 0.016956 NA 0.036 NA 5.266963 1125 19 12090312 12090312 C A UTR3 ZNF763 NM_001012753:c.*388C>A NA NA UTR3 ENSG00000197054 ENST00000343949:c.*388C>A NA NA NA NA 19p13.2 NA Name=KAP1,SETDB1 NA NA rs190705 0.16 0.16 0.187 0.19389 0.0666 0.0278 0.0749 0.5764 0.0634 0.06 0.04 0.08 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687792 NA NA NA NA NA 0.232 NA 5.2667334 1125 1 248167139 248167139 C G intronic OR2L13 NA NA NA ncRNA_exonic ENSG00000232215 NA NA NA Score=265;Name=lod=16 NA 1q44 NA NA NA NA rs72763234 0.1 0.1 0.087 0.086262 0.0666 0.1419 0.0288 0.1157 0.0501 0.06 0.18 0.03 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262801 NA NA NA NA NA 0.058 NA 5.2667333 1125 16 78389444 78389444 C T intronic WWOX NA NA NA ncRNA_exonic ENSG00000260014 NA NA NA Score=643;Name=lod=549 NA 16q23.1 NA NA NA NA rs113112892 0.08 0.08 0.068 0.0750799 0.0666 0.1687 0.0634 0.003 0.093 0.06 0.18 0.06 0.01 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525761 NA NA NA NA NA 0.065 NA 5.2667333 1125 5 96098758 96098758 C T UTR3 ERAP1 NM_016442:c.*146G>A NA NA UTR3 ENSG00000164307 ENST00000296754:c.*146G>A NA NA NA NA 5q15 NA Name=GATA-2,TCF4 NA NA rs3822682 0.07 0.07 0.073 0.0748802 0.0676 0.0238 0.0476 0.1543 0.047 0.05 0.03 0.07 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49303 NA NA NA NA NA 0.094 NA 5.2657334 1125 22 42962218 42962218 C G intronic SERHL2 NA NA NA ncRNA_intronic ENSG00000182841 NA NA NA NA NA 22q13.2 NA Name=Pol2 NA NA rs9623626 0.25 0.25 0.241 0.260583 0.0676 0.5833 0.121 0.2837 0.1943 0.07 0.55 0.12 0.28 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115401 NA NA NA NA NA 0.138 NA 5.2657333 1125 12 49255798 49255798 G C exonic RND1 NA synonymous SNV RND1:NM_014470:exon3:c.C312G:p.L104L exonic ENSG00000172602 NA synonymous SNV ENSG00000172602:ENST00000309739:exon3:c.C312G:p.L104L Score=449;Name=lod=89 NA 12q13.12 NA NA NA NA rs1565933 0.42 0.42 0.387 0.410743 0.4722 0.3869 0.5432 0.2821 0.4519 0.46 0.41 0.53 0.3 0.459 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969341 NA NA 0.469884 0.332955 NA 0.399 NA 5.2655826 1125 6 28542520 28542520 C T exonic SCAND3 NA synonymous SNV SCAND3:NM_052923:exon3:c.G1962A:p.K654K exonic ENSG00000232040 NA synonymous SNV ENSG00000232040:ENST00000452236:exon3:c.G1962A:p.K654K Score=383;Name=lod=48 NA 6p22.1 NA NA NA NA rs370520 0.62 0.62 0.635 0.651558 0.4354 0.6716 0.5461 0.9274 0.5552 0.42 0.69 0.54 0.92 0.5154 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064604 NA NA 0.450349 0.846346 NA 0.652 NA 5.2655176 1126 6 56840553 56840553 C T intronic BEND6 NA NA NA ncRNA_exonic ENSG00000219790 NA NA NA Score=706;Name=lod=985 NA 6p12.1 NA NA NA NA rs9396245 0.09 0.09 0.075 0.0992412 0.0686 0.1915 0.0836 0.0885 0.0613 0.07 0.14 0.09 0.08 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291592 NA NA NA NA NA 0.123 NA 5.2647333 1126 15 64885245 64885245 G T intronic ZNF609 NA NA NA ncRNA_exonic ENSG00000243403 NA NA NA Score=720;Name=lod=1122 NA 15q22.31 NA NA NA NA rs117686856 0.03 0.03 0.025 0.034345 0.0686 0.001 0.0245 0.003 0.0828 0.07 NA 0.02 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416205 NA NA NA NA NA 0.065 NA 5.2647333 1126 6 29896054 29896054 C A intergenic HCG4B,HLA-A dist=2626;dist=14193 NA NA ncRNA_exonic ENSG00000230795 NA NA NA Score=383;Name=lod=48 NA 6p22.1 Score=779;Name=V$MYCMAX_03 NA NA NA rs9259844 NA NA 0.677 0.794928 0.7356 0.9028 0.804 0.708 0.8558 NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842855 NA NA NA NA NA 0.087 NA 5.2644 1126 6 28542424 28542424 G A exonic SCAND3 NA synonymous SNV SCAND3:NM_052923:exon3:c.C2058T:p.D686D exonic ENSG00000232040 NA synonymous SNV ENSG00000232040:ENST00000452236:exon3:c.C2058T:p.D686D Score=399;Name=lod=56 NA 6p22.1 NA NA NA NA rs450630 0.62 0.62 0.631 0.651558 0.4354 0.6716 0.5461 0.9274 0.5552 0.42 0.69 0.54 0.92 0.5163 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317395 NA NA 0.450698 0.846346 NA 0.652 NA 5.2642686 1126 5 177675217 177675217 C T exonic COL23A1 NA synonymous SNV COL23A1:NM_173465:exon20:c.G1188A:p.A396A exonic ENSG00000050767 NA synonymous SNV ENSG00000050767:ENST00000390654:exon20:c.G1188A:p.A396A NA NA 5q35.3 NA Name=TCF12 NA NA rs2913851 0.32 0.32 0.314 0.303115 0.4771 0.2192 0.4409 0.0991 0.3885 0.48 0.21 0.49 0.1 0.4282 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076822 NA NA 0.497238 0.148723 ID=COSM1436390;OCCURENCE=1(large_intestine) 0.399 NA 5.2641286 1126 14 23848311 23848311 C T exonic CMTM5 NA synonymous SNV CMTM5:NM_138460:exon3:c.C351T:p.D117D exonic ENSG00000166091 NA synonymous SNV ENSG00000166091:ENST00000397227:exon2:c.C198T:p.D66D,ENSG00000166091:ENST00000359320:exon3:c.C351T:p.D117D,ENSG00000166091:ENST00000555731:exon3:c.C237T:p.D79D,ENSG00000166091:ENST00000339180:exon4:c.C552T:p.D184D Score=544;Name=lod=217 NA 14q11.2 NA NA NA NA rs723840 0.5 0.5 0.547 0.509385 0.4742 0.256 0.3674 0.848 0.4499 0.48 0.29 0.41 0.83 0.459 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303409 1.303409 NA 0.470465 0.776214 ID=COSM147744;OCCURENCE=1(stomach) 0.435 NA 5.2630016 1126 11 123777536 123777536 G A exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G398A:p.R133K exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.G398A:p.R133K NA NA 11q24.1 NA NA NA NA rs7926767 0.7 0.7 0.688 0.6873 0.6809 0.7262 0.7911 0.6475 0.6339 0.68 0.75 0.79 0.62 0.6986 0.79 0.23 T 0.0 B 0.0 B 0.798 N 1.000 P -0.18 N 2.17 T -1.022 T 0.000 T 0.021 0.44 6.388 -0.916 -0.353 -0.716 1.765 0.439618 NA 0.21 0.690975 0.646004 NA 0.681 NA 5.2628584 1126 5 173316729 173316729 G A UTR5 CPEB4 NM_030627:c.-8G>A NA NA UTR5 ENSG00000113742 ENST00000265085:c.-8G>A,ENST00000334035:c.-8G>A,ENST00000520867:c.-8G>A,ENST00000519835:c.-8G>A NA NA Score=793;Name=lod=2232 NA 5q35.2 Score=797;Name=V$MEF2_04 NA Name=99 NA rs359467 0.54 0.54 0.551 0.551917 0.6948 0.3591 0.4928 0.5575 0.638 0.71 0.33 0.52 0.56 0.6471 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432236 1.432236 NA 0.728658 0.566046 NA 0.688 NA 5.2627754 1126 5 153717709 153717709 G A intronic GALNT10 NA NA NA ncRNA_exonic ENSG00000253119 NA NA NA Score=594;Name=lod=347 NA 5q33.2 NA NA NA NA rs113684016 0.05 0.05 0.046 0.0551118 0.0706 0.002 0.0432 0.0756 0.0746 0.07 0.0035 0.05 0.06 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.570495 1.570495 NA NA NA NA 0.036 NA 5.2627333 1126 19 43372386 43372386 T C exonic PSG1 NA synonymous SNV PSG1:NM_001184825:exon5:c.A1110G:p.E370E,PSG1:NM_001184826:exon5:c.A1110G:p.E370E,PSG1:NM_006905:exon5:c.A1110G:p.E370E exonic ENSG00000231924 NA synonymous SNV ENSG00000231924:ENST00000403380:exon4:c.A831G:p.E277E,ENSG00000231924:ENST00000595124:exon4:c.A831G:p.E277E,ENSG00000231924:ENST00000244296:exon5:c.A1110G:p.E370E,ENSG00000231924:ENST00000312439:exon5:c.A1110G:p.E370E,ENSG00000231924:ENST00000436291:exon5:c.A1110G:p.E370E,ENSG00000231924:ENST00000595356:exon5:c.A1110G:p.E370E NA NA 19q13.2 NA NA NA NA rs1064491 0.23 0.23 0.213 0.286741 0.1014 0.4167 0.1945 0.3139 0.3722 0.1 0.4 0.14 0.28 0.1938 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601166 NA NA 0.108888 0.287597 NA 0.239 NA 5.2625786 1126 10 120920588 120920588 T C exonic SFXN4 NA synonymous SNV SFXN4:NM_213649:exon4:c.A258G:p.Q86Q exonic ENSG00000183605 NA synonymous SNV ENSG00000183605:ENST00000355697:exon4:c.A258G:p.Q86Q Score=374;Name=lod=44 NA 10q26.11 NA NA NA NA rs10749291 0.51 0.51 0.508 0.494409 0.4374 0.7163 0.4496 0.4349 0.4366 0.44 0.7 0.44 0.46 0.4819 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374621 NA NA 0.485 0.431457 NA 0.493 NA 5.2623666 1126 16 53503934 53503934 G A exonic RBL2 NA synonymous SNV RBL2:NM_005611:exon15:c.G2082A:p.T694T exonic ENSG00000103479 NA synonymous SNV ENSG00000103479:ENST00000262133:exon15:c.G2082A:p.T694T,ENSG00000103479:ENST00000544405:exon15:c.G1860A:p.T620T NA NA 16q12.2 NA Name=CTCF NA NA rs1131220 0.46 0.46 0.48 0.505391 0.4662 0.1786 0.4049 0.8517 0.4857 0.45 0.15 0.45 0.82 0.4525 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251622 NA NA 0.485698 0.769336 NA 0.623 NA 5.2622686 1126 19 56424532 56424532 G A exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon5:c.C651T:p.R217R exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon5:c.C651T:p.R217R,ENSG00000173572:ENST00000588751:exon5:c.C651T:p.R217R NA NA 19q13.43 NA NA NA NA rs731338 0.12 0.12 0.084 0.107827 0.1342 0.1746 0.1412 0.0091 0.1217 0.13 0.17 0.16 0.01 0.1226 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281862 NA NA 0.147791 0.026782 NA 0.051 NA 5.2620756 1126 16 70068086 70068086 G C ncRNA_exonic PDXDC2P NA NA NA ncRNA_exonic ENSG00000196696,ENSG00000255185 NA NA NA Score=635;Name=lod=509 NA 16q22.1 NA NA NA NA rs2287967 0.22 0.22 0.142 0.185503 0.4046 0.0833 0.3242 0.0227 0.1871 0.39 0.09 0.32 0.02 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980562 NA 0.05 NA NA NA 0.007 NA 5.2620666 1126 20 62703490 62703490 C T intronic TCEA2 NA NA NA intronic ENSG00000171703 NA NA NA NA NA 20q13.33 NA Name=EBF Name=4 NA rs13039439 0.2 0.2 0.181 0.19349 0.2445 0.2242 0.2205 0.0756 0.2495 0.24 0.25 0.23 0.07 0.238 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130224 NA NA 0.255814 0.103041 NA 0.152 NA 5.261686 1126 14 65007547 65007547 G T UTR5 HSPA2 NM_021979:c.-21G>T NA NA UTR5 ENSG00000126803 ENST00000247207:c.-21G>T NA NA NA NA 14q23.3 NA Name=TAF1,NRSF,Pol2,Pol2(b),Pol2-4H8,SETDB1,TBP NA NA rs17101919 0.02 0.02 0.013 0.0139776 0.0239 0.001 0.013 0.0204 0.0092 0.02 0.0017 0.01 0.02 0.0233 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.502632 NA NA 0.024651 0.029051 NA 0.007 NA 5.2614824 1126 10 102798346 102798346 T C intronic SFXN3 NA NA NA intronic ENSG00000107819 NA NA NA NA NA 10q24.31 NA Name=CTCF,CTCF_(SC-5916),ZBTB7A_(SC-34508) Name=2 NA rs807049 0.26 0.26 0.24 0.269369 0.3608 0.0179 0.317 0.3442 0.2996 0.36 0.02 0.32 0.35 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571319 NA NA 0.37775 0.358382 NA 0.275 NA 5.26145 1126 19 46289509 46289509 G A exonic DMWD NA synonymous SNV DMWD:NM_004943:exon3:c.C1245T:p.G415G exonic ENSG00000185800 NA synonymous SNV ENSG00000185800:ENST00000270223:exon3:c.C1245T:p.G415G,ENSG00000185800:ENST00000377735:exon3:c.C1245T:p.G415G NA NA 19q13.32 NA NA NA NA rs11545326 0.09 0.09 0.093 0.0822684 0.162 0.0407 0.111 0.0045 0.1278 0.16 0.05 0.13 0.01 0.116 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.419542 NA NA 0.127442 0.021981 NA 0.058 NA 5.2612246 1126 11 63885287 63885287 C T exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.C1548T:p.Y516Y exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.C1548T:p.Y516Y NA NA 11q13.1 NA NA NA NA rs947939 0.09 0.09 0.083 0.0692891 0.1392 0.0675 0.0821 0.0121 0.0675 0.14 0.08 0.09 0.01 0.1127 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.879144 NA NA 0.153596 0.036347 NA 0.109 NA 5.2611706 1126 19 41281346 41281346 C T UTR5 MIA NM_006533:c.-102C>T NA NA UTR5 ENSG00000261857 ENST00000263369:c.-102C>T NA NA NA NA 19q13.2 Score=860;Name=V$EVI1_02 NA NA NA rs2233154 0.14 0.14 0.14 0.122204 0.0726 0.2083 0.0648 0.1732 0.0562 0.07 0.24 0.08 0.18 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.020381 NA NA NA NA NA 0.072 NA 5.2607334 1126 4 99330826 99330826 T C intronic RAP1GDS1 NA NA NA ncRNA_exonic ENSG00000242318 NA NA NA Score=607;Name=lod=389 NA 4q23 NA NA NA NA rs28411105 0.14 0.14 0.132 0.153954 0.0726 0.0397 0.1945 0.3389 0.0767 0.07 0.05 0.19 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261819 NA NA NA NA NA 0.145 NA 5.2607333 1126 12 9833628 9833628 C T exonic CLEC2D NA synonymous SNV CLEC2D:NM_001004419:exon2:c.C171T:p.S57S,CLEC2D:NM_001197318:exon2:c.C171T:p.S57S,CLEC2D:NM_013269:exon2:c.C171T:p.S57S exonic ENSG00000069493 NA synonymous SNV ENSG00000069493:ENST00000430909:exon1:c.C108T:p.S36S,ENSG00000069493:ENST00000544322:exon1:c.C93T:p.S31S,ENSG00000069493:ENST00000261340:exon2:c.C171T:p.S57S,ENSG00000069493:ENST00000290855:exon2:c.C171T:p.S57S,ENSG00000069493:ENST00000325960:exon2:c.C171T:p.S57S,ENSG00000069493:ENST00000444971:exon2:c.C171T:p.S57S,ENSG00000069493:ENST00000476198:exon2:c.C45T:p.S15S,ENSG00000069493:ENST00000479877:exon2:c.C171T:p.S57S,ENSG00000069493:ENST00000536355:exon2:c.C45T:p.S15S,ENSG00000069493:ENST00000543300:exon2:c.C171T:p.S57S,ENSG00000069493:ENST00000479410:exon3:c.C45T:p.S15S NA Name=Type 1 diabetes 12p13.31 NA NA NA NA rs3764021 0.47 0.47 0.475 0.464657 0.4692 0.371 0.4092 0.5635 0.4622 0.47 0.35 0.49 0.59 0.4628 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677908 NA NA 0.474058 0.54564 ID=COSM1365022,COSM1365021;OCCURENCE=2(large_intestine) 0.587 NA 5.2606086 1126 1 15905501 15905501 G A exonic AGMAT NA synonymous SNV AGMAT:NM_024758:exon4:c.C573T:p.T191T exonic ENSG00000116771 NA synonymous SNV ENSG00000116771:ENST00000375826:exon4:c.C573T:p.T191T NA NA 1p36.21 NA NA NA NA rs41270261 0.1 0.1 0.095 0.0922524 0.1421 0.0308 0.1124 0.087 0.0971 0.14 0.03 0.14 0.08 0.1231 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136101 NA NA 0.14093 0.091012 ID=COSM1335380;OCCURENCE=1(large_intestine) 0.065 NA 5.2605366 1126 17 79182778 79182778 T C exonic AZI1 NA synonymous SNV AZI1:NM_001009811:exon3:c.A222G:p.R74R,AZI1:NM_014984:exon3:c.A222G:p.R74R exonic ENSG00000141577 NA synonymous SNV ENSG00000141577:ENST00000269392:exon3:c.A222G:p.R74R,ENSG00000141577:ENST00000374782:exon3:c.A222G:p.R74R,ENSG00000141577:ENST00000450824:exon3:c.A222G:p.R74R,ENSG00000141577:ENST00000575907:exon3:c.A222G:p.R74R Score=431;Name=lod=75 NA 17q25.3 NA NA NA NA rs62075318 0.43 0.43 0.372 0.41853 0.4443 0.626 0.6095 0.0227 0.5777 0.46 0.63 0.59 0.05 0.4904 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675456 NA NA 0.472209 0.100318 ID=COSM1480156,COSM437766;OCCURENCE=2(breast) 0.355 NA 5.2597576 1126 3 126207222 126207222 A G intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA Name=Pol2,CTCF,c-Myc Name=11 NA rs777483 0.65 0.65 0.617 0.641973 0.7406 0.5873 0.6153 0.559 0.728 0.74 0.59 0.67 0.55 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049012 NA NA NA NA NA 0.681 NA 5.2594 1126 11 15096419 15096419 C T intronic CALCB NA NA NA intronic ENSG00000175868 NA NA NA NA NA 11p15.2 NA Name=CTCFL_(SC-98982),TCF4,ELF1_(SC-631),CTCF,KAP1,HA-E2F1 Name=137 NA rs1540139 0.72 0.72 0.722 0.708067 0.7406 0.8492 0.549 0.652 0.7178 0.74 0.82 0.58 0.66 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.193279 2.193279 NA NA NA NA 0.703 NA 5.2594 1126 8 92170649 92170649 A G intronic LRRC69 NA NA NA ncRNA_exonic ENSG00000253525 NA NA NA NA NA 8q21.3 NA NA Name=15 NA rs61733744 0.04 0.04 0.031 0.0311502 0.0746 0.003 0.0432 0.0076 0.0389 0.07 0.0035 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2947 NA NA NA NA NA 0.029 NA 5.2587333 1126 22 44079645 44079645 T C exonic EFCAB6 NA synonymous SNV EFCAB6:NM_198856:exon10:c.A777G:p.A259A,EFCAB6:NM_022785:exon12:c.A1233G:p.A411A exonic ENSG00000186976 NA synonymous SNV ENSG00000186976:ENST00000396231:exon10:c.A777G:p.A259A,ENSG00000186976:ENST00000262726:exon12:c.A1233G:p.A411A NA NA 22q13.2 NA NA NA NA rs8141450 0.08 0.08 0.069 0.0808706 0.1481 0.0327 0.0807 0.0083 0.1595 0.16 0.03 0.09 0.01 0.1195 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.155141 NA NA 0.140698 0.027009 ID=COSM149306;OCCURENCE=1(stomach) 0.094 NA 5.2583686 1126 4 70156392 70156392 A G exonic UGT2B28 NA synonymous SNV UGT2B28:NM_053039:exon5:c.A1173G:p.V391V exonic ENSG00000135226 NA synonymous SNV ENSG00000135226:ENST00000335568:exon5:c.A1173G:p.V391V Score=543;Name=lod=215 NA 4q13.2 NA NA NA NA rs10013145 0.35 0.35 0.349 0.389377 0.4781 0.3829 0.4582 0.3079 0.3661 0.43 0.34 0.4 0.21 0.4817 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.599476 NA NA 0.449008 0.327889 NA 0.239 NA 5.2578586 1126 11 69251982 69251982 C T intergenic MYEOV,CCND1 dist=187228;dist=203891 NA NA intergenic ENSG00000255980,ENSG00000255606 dist=7593;dist=1151 NA NA NA NA 11q13.3 NA Name=USF2,Mxi1_(bHLH),SMC3_(ab9263),Max,GR,CTCF,p300,BHLHE40,CEBPB,AP-2alpha,FOXA1_(C-20),ERalpha_a,c-Myc,AP-2gamma Name=56 NA rs77247065 0.05 0.05 0.048 0.0563099 0.0755 0.0248 0.0519 0.0484 0.0828 0.06 0.02 0.05 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.588329 NA NA NA NA NA 0.043 NA 5.2578334 1126 12 18846646 18846646 G C intronic PLCZ1 NA NA NA ncRNA_exonic ENSG00000255993 NA NA NA Score=847;Name=lod=3675 NA 12p12.3 NA NA NA NA rs116981455 0.04 0.04 0.039 0.0249601 0.0755 0.001 0.0346 0.0045 0.0184 0.09 NA 0.03 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42673 NA NA NA NA NA 0.094 NA 5.2578333 1126 17 74222347 74222347 C G intronic RNF157 NA NA NA ncRNA_exonic ENSG00000228218 NA NA NA Score=440;Name=lod=82 NA 17q25.1 NA NA NA NA rs6501867 0.12 0.12 0.096 0.146765 0.0755 0.003 0.2075 0.298 0.1207 0.07 0.0017 0.18 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.6492 1.6492 NA NA NA NA 0.203 NA 5.2578333 1126 6 25773809 25773809 A G exonic SLC17A4 NA synonymous SNV SLC17A4:NM_005495:exon8:c.A894G:p.L298L exonic ENSG00000146039 NA synonymous SNV ENSG00000146039:ENST00000397076:exon4:c.A204G:p.L68L,ENSG00000146039:ENST00000377905:exon8:c.A894G:p.L298L NA NA 6p22.2 NA NA NA NA rs2275906 0.08 0.08 0.078 0.096845 0.1421 0.0546 0.111 0.0295 0.1748 0.12 0.05 0.12 0.02 0.1224 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.986262 1.986262 NA 0.145465 0.04108 NA 0.101 NA 5.2567016 1126 8 134144113 134144113 C T exonic TG NA synonymous SNV TG:NM_003235:exon46:c.C7920T:p.Y2640Y exonic ENSG00000042832 NA synonymous SNV ENSG00000042832:ENST00000519543:exon17:c.C2319T:p.Y773Y,ENSG00000042832:ENST00000542445:exon25:c.C3030T:p.Y1010Y,ENSG00000042832:ENST00000377869:exon45:c.C7749T:p.Y2583Y,ENSG00000042832:ENST00000220616:exon46:c.C7920T:p.Y2640Y NA NA 8q24.22 NA NA NA NA rs2294024 0.42 0.42 0.434 0.405351 0.4841 0.1657 0.4928 0.5885 0.2618 0.48 0.17 0.53 0.56 0.4335 0.58 . . . . . . . . 1.000 P . . . . . . . . . 0.439 6.383 0.051 0.254 -0.075 4.892 0.438787 NA NA 0.492791 0.575579 ID=COSM150551;OCCURENCE=1(stomach) 0.391 NA 5.2562756 1126 7 75442759 75442759 G A intronic CCL24 NA NA NA intronic ENSG00000106178 NA NA NA NA NA 7q11.23 Score=830;Name=V$HTF_01 NA Name=15 NA rs2302005 0.36 0.36 0.326 0.355631 0.2336 0.6329 0.4236 0.2307 0.316 0.24 0.64 0.36 0.24 0.2935 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410458 NA NA 0.216977 0.240354 NA 0.406 NA 5.255923 1126 10 102008483 102008483 A G intronic CWF19L1 NA NA NA ncRNA_exonic ENSG00000230224 NA NA NA Score=783;Name=lod=2026 NA 10q24.31 NA NA NA NA rs7082753 0.2 0.2 0.202 0.238219 0.0775 0.1419 0.1239 0.5552 0.1554 0.09 0.15 0.12 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063748 NA NA NA NA NA 0.167 NA 5.2558333 1126 15 22413825 22413825 C T ncRNA_exonic OR4N3P NA NA NA ncRNA_exonic ENSG00000259435 NA NA NA Score=456;Name=lod=95 NA 15q11.2 NA NA NA NA rs267613 NA NA 0.308 NA NA NA NA NA NA NA NA NA NA 0.4109 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.071499 NA NA NA NA ID=COSN164865;OCCURENCE=1(NS) 0.297 NA 5.2557666 1126 22 32756744 32756744 A G exonic RFPL3 NA synonymous SNV RFPL3:NM_001098535:exon2:c.A879G:p.Q293Q,RFPL3:NM_006604:exon3:c.A792G:p.Q264Q exonic ENSG00000128276,ENSG00000205853 NA synonymous SNV ENSG00000128276:ENST00000249007:exon2:c.A879G:p.Q293Q,ENSG00000128276:ENST00000382088:exon2:c.A792G:p.Q264Q,ENSG00000128276:ENST00000397468:exon3:c.A792G:p.Q264Q,ENSG00000205853:ENST00000382084:exon4:c.T207C:p.P69P,ENSG00000205853:ENST00000400234:exon5:c.T294C:p.P98P NA NA 22q12.3 NA NA NA NA rs2076035 0.5 0.5 0.46 NA NA NA NA NA NA 0.4 0.51 0.48 0.67 0.4109 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295329 NA 0.07 NA NA NA 0.623 NA 5.2557666 1126 1 207510596 207510596 G A intronic CD55 NA NA NA intronic ENSG00000196352 NA NA NA NA NA 1q32.2 NA Name=TBP,CEBPB,BATF,CHD2_(N-1250),EBF1_(C-8),TCF12,Oct-2,GR,STAT1,FOXA1_(SC-101058),NFKB,BCL11A,Pol2-4H8,IRF4_(M-17),Pol2,SP1,RFX5_(N-494),Pol2(phosphoS2),SMC3_(ab9263),FOXA1_(C-20),POU2F2,JunD,EBF Name=86 NA rs10746463 0.66 0.66 0.658 0.621605 0.7445 0.4107 0.7032 0.6967 0.5532 0.74 0.47 0.7 0.7 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651786 NA NA NA NA NA 0.725 NA 5.2555 1127 1 214787130 214787130 G A exonic CENPF NA synonymous SNV CENPF:NM_016343:exon2:c.G33A:p.G11G exonic ENSG00000117724 NA synonymous SNV ENSG00000117724:ENST00000366955:exon2:c.G33A:p.G11G Score=562;Name=lod=257 NA 1q41 NA NA NA NA rs2070064 0.27 0.27 0.253 0.236222 0.499 0.121 0.3156 0.0522 0.2771 0.49 0.11 0.35 0.07 0.3957 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.093948 3.093948 NA 0.517442 0.119156 ID=COSM425275;OCCURENCE=1(breast) 0.326 NA 5.2545246 1127 1 236647736 236647736 C T UTR3 EDARADD NM_145861:c.*1787C>T,NM_080738:c.*1787C>T NA NA ncRNA_exonic ENSG00000244457 NA NA NA Score=795;Name=lod=2274 NA 1q43 NA NA NA NA rs6428955 0.15 0.15 0.136 0.13778 0.2455 0.0417 0.2017 0.0272 0.2301 0.25 0.05 0.22 0.04 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.206567 NA NA NA NA NA 0.159 NA 5.2545 1127 11 122888570 122888570 G T ncRNA_exonic LOC341056 NA NA NA ncRNA_exonic ENSG00000213184 NA NA NA Score=669;Name=lod=699 NA 11q24.1 NA NA NA NA rs7933723 0.2 0.2 0.176 0.166733 0.4125 0.003 0.2219 0.0582 0.1902 0.4 0.01 0.26 0.06 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095 NA NA NA NA NA 0.275 NA 5.2541666 1127 3 9876987 9876987 G A exonic TTLL3 NA synonymous SNV TTLL3:NM_001025930:exon13:c.G2562A:p.R854R exonic ENSG00000214021 NA synonymous SNV ENSG00000214021:ENST00000426895:exon13:c.G2562A:p.R854R,ENSG00000214021:ENST00000547186:exon13:c.G2133A:p.R711R NA NA 3p25.3 NA NA NA NA rs1057281 0.13 0.13 0.115 0.11901 0.1183 0.0565 0.1009 0.211 0.0726 0.13 0.06 0.11 0.23 0.1391 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078172 NA NA 0.155656 0.192761 NA 0.116 NA 5.2536106 1127 1 156760887 156760887 C A intronic PRCC NA NA NA exonic ENSG00000143294 NA unknown UNKNOWN NA NA 1q23.1 NA NA NA NA rs11264554 0.41 0.41 0.391 0.348442 0.4264 0.7282 0.3602 0.0408 0.2843 0.42 0.71 0.4 0.06 0.4084 0.71 0.02 D . . . . . . 1.000 P . . . . -1.024 T 0.047 T 0.1 1.114 9.544 -0.597 0.008 -0.309 3.268 1.114047 NA 0 0.411602 0.11016 NA 0.319 NA 5.253598 1127 15 79019578 79019578 G T intergenic CHRNB4,LOC646938 dist=85991;dist=24801 NA NA ncRNA_exonic ENSG00000261303 NA NA NA Score=409;Name=lod=61 NA 15q25.1 NA Name=TBP,Pol2-4H8,Pol2 NA NA rs899997 0.54 0.54 0.483 0.480032 0.7465 0.4722 0.6225 0.1747 0.5256 0.74 0.5 0.61 0.22 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.973607 NA NA NA NA NA 0.623 NA 5.2535 1127 19 21838492 21838492 C G intergenic ZNF429,ZNF100 dist=117413;dist=68351 NA NA ncRNA_exonic ENSG00000268278 NA NA NA Score=441;Name=lod=83 NA 19p12 NA Name=ZNF274 NA NA rs6511280 0.65 0.65 0.603 0.623802 0.7465 0.7202 0.7233 0.3601 0.684 0.75 0.71 0.74 0.38 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441474 NA 0.01 NA NA NA 0.696 NA 5.2535 1127 19 21838565 21838565 T C intergenic ZNF429,ZNF100 dist=117486;dist=68278 NA NA ncRNA_exonic ENSG00000268278 NA NA NA Score=423;Name=lod=70 NA 19p12 NA Name=KAP1,ZNF274 NA NA rs6511281 0.65 0.65 0.604 0.624002 0.7465 0.7202 0.7233 0.3601 0.6851 0.75 0.71 0.74 0.38 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.417596 NA 1 NA NA NA 0.638 NA 5.2535 1127 2 87157790 87157790 C G intronic RGPD1,RGPD2 NA NA NA ncRNA_exonic ENSG00000231351 NA NA NA Score=640;Name=lod=533 NA 2p11.2 NA NA NA NA rs149973466 0.16 0.16 0.103 0.195288 0.0805 0.0218 0.0951 0.556 0.0757 0.07 0.03 0.1 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217574 NA NA NA NA NA NA NA 5.2528333 1127 8 4645351 4645351 T G intronic CSMD1 NA NA NA ncRNA_exonic ENSG00000254244 NA NA NA Score=503;Name=lod=148 NA 8p23.2 NA NA NA NA rs10503283 0.12 0.12 0.106 0.110423 0.0805 0.252 0.1066 0.0295 0.1074 0.08 0.26 0.08 0.04 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.583525 NA NA NA NA NA 0.065 NA 5.2528333 1127 9 108521693 108521693 A G intronic TMEM38B NA NA NA ncRNA_exonic ENSG00000232486 NA NA NA Score=566;Name=lod=265 NA 9q31.2 NA NA NA NA rs10759135 0.21 0.21 0.207 0.209665 0.0805 0.4395 0.2104 0.1921 0.1288 0.08 0.42 0.18 0.21 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306355 NA NA NA NA NA 0.181 NA 5.2528333 1127 12 53647373 53647373 T C exonic MFSD5 NA synonymous SNV MFSD5:NM_001170790:exon2:c.T1075C:p.L359L,MFSD5:NM_032889:exon2:c.T754C:p.L252L exonic ENSG00000182544 NA synonymous SNV ENSG00000182544:ENST00000329548:exon2:c.T754C:p.L252L,ENSG00000182544:ENST00000534842:exon2:c.T1075C:p.L359L,ENSG00000182544:ENST00000551660:exon2:c.T1075C:p.L359L Score=619;Name=lod=439 NA 12q13.13 NA NA NA NA rs10876422 0.44 0.44 0.42 0.463259 0.4632 0.5972 0.4135 0.2625 0.6319 0.44 0.58 0.44 0.29 0.481 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393024 NA NA 0.469651 0.302315 NA 0.413 NA 5.2528156 1127 19 43383680 43383680 G T exonic PSG1 NA synonymous SNV PSG1:NM_001184825:exon1:c.C54A:p.L18L,PSG1:NM_001184826:exon1:c.C54A:p.L18L,PSG1:NM_006905:exon1:c.C54A:p.L18L exonic ENSG00000231924 NA synonymous SNV ENSG00000231924:ENST00000244296:exon1:c.C54A:p.L18L,ENSG00000231924:ENST00000312439:exon1:c.C54A:p.L18L,ENSG00000231924:ENST00000403380:exon1:c.C54A:p.L18L,ENSG00000231924:ENST00000436291:exon1:c.C54A:p.L18L,ENSG00000231924:ENST00000595124:exon1:c.C54A:p.L18L,ENSG00000231924:ENST00000595356:exon1:c.C54A:p.L18L NA NA 19q13.2 NA NA NA NA rs1141653 0.27 0.27 0.232 0.326078 0.1014 0.4167 0.2046 0.4614 0.3671 0.1 0.4 0.16 0.45 0.2067 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16292 NA NA 0.106391 0.422185 NA 0.283 NA 5.2521756 1127 19 15233581 15233581 C A exonic ILVBL NA synonymous SNV ILVBL:NM_006844:exon6:c.G639T:p.L213L exonic ENSG00000105135 NA synonymous SNV ENSG00000105135:ENST00000527093:exon5:c.G639T:p.L213L,ENSG00000105135:ENST00000534378:exon5:c.G318T:p.L106L,ENSG00000105135:ENST00000600984:exon5:c.G318T:p.L106L,ENSG00000105135:ENST00000263383:exon6:c.G639T:p.L213L Score=493;Name=lod=134 NA 19p13.12 NA NA NA NA rs2074265 0.55 0.55 0.559 0.556909 0.4473 0.5635 0.4078 0.7519 0.5051 0.46 0.56 0.42 0.75 0.4929 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557298 NA NA 0.474302 0.721743 NA 0.522 NA 5.2521646 1127 10 115370254 115370254 A G exonic NRAP NA synonymous SNV NRAP:NM_006175:exon30:c.T3462C:p.I1154I,NRAP:NM_001261463:exon31:c.T3567C:p.I1189I,NRAP:NM_198060:exon31:c.T3567C:p.I1189I exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000360478:exon30:c.T3462C:p.I1154I,ENSG00000197893:ENST00000369360:exon30:c.T3486C:p.I1162I,ENSG00000197893:ENST00000359988:exon31:c.T3567C:p.I1189I,ENSG00000197893:ENST00000369358:exon31:c.T3591C:p.I1197I Score=450;Name=lod=90 NA 10q25.3 NA NA NA NA rs12243176 0.46 0.46 0.436 0.469449 0.4652 0.6032 0.4669 0.354 0.4939 0.44 0.57 0.48 0.34 0.4649 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151323 NA NA 0.484419 0.360191 NA 0.377 NA 5.2521476 1127 12 48882013 48882013 G A intronic C12orf54 NA NA NA ncRNA_exonic ENSG00000240443 NA NA NA Score=739;Name=lod=1339 NA 12q13.11 NA NA NA NA rs4265629 0.28 0.28 0.21 0.288938 0.0815 0.6548 0.3357 0.1543 0.274 0.09 0.63 0.3 0.14 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806318 NA NA NA NA NA 0.174 NA 5.2518333 1127 17 18574998 18574998 A T ncRNA_exonic FOXO3B NA NA NA ncRNA_exonic ENSG00000240445 NA NA NA Score=304;Name=lod=23 NA 17p11.2 NA NA NA NA rs9635701 0.37 0.37 0.379 0.315695 0.4155 0.3889 0.4496 0.1982 0.2014 0.42 0.38 0.43 0.24 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257555 NA NA NA NA NA 0.42 NA 5.2511666 1127 11 6243804 6243804 A G exonic FAM160A2 NA synonymous SNV FAM160A2:NM_001098794:exon6:c.T1059C:p.Y353Y,FAM160A2:NM_032127:exon6:c.T1059C:p.Y353Y exonic ENSG00000051009 NA synonymous SNV ENSG00000051009:ENST00000265978:exon6:c.T1059C:p.Y353Y,ENSG00000051009:ENST00000449352:exon6:c.T1059C:p.Y353Y,ENSG00000051009:ENST00000524416:exon6:c.T1059C:p.Y353Y Score=724;Name=lod=1170 NA 11p15.4 Score=887;Name=V$GATA1_02 NA NA NA rs3750945 0.75 0.75 0.741 0.728035 0.8161 0.9593 0.8055 0.3555 0.8476 0.81 0.96 0.84 0.36 0.7924 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942249 NA NA 0.807612 0.417765 NA 0.746 NA 5.2505546 1127 16 3451881 3451881 C T UTR5 ZNF174 NM_003450:c.-124C>T,NM_001032292:c.-124C>T NA NA ncRNA_UTR5 ENSG00000103343 NA NA NA NA NA 16p13.3 NA NA Name=11 NA rs37810 0.22 0.22 0.183 0.229233 0.2495 0.1319 0.2176 0.2769 0.2526 0.25 0.13 0.23 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.89885 NA NA NA NA NA 0.377 NA 5.2505 1127 3 129826100 129826100 C T ncRNA_intronic FAM86HP NA NA NA ncRNA_exonic ENSG00000253540 NA NA NA Score=378;Name=lod=46 NA 3q22.1 NA NA NA NA rs7428344 0.3 0.3 0.256 0.298722 0.4165 0.248 0.3545 0.1755 0.3569 0.4 0.22 0.39 0.17 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034642 NA NA NA NA NA 0.326 NA 5.2501666 1127 17 18575140 18575140 A G ncRNA_exonic FOXO3B NA NA NA ncRNA_exonic ENSG00000240445 NA NA NA Score=653;Name=lod=602 NA 17p11.2 NA NA NA NA rs9635681 0.29 0.29 0.208 0.34984 0.4165 0.3879 0.4597 0.3222 0.2014 0.31 0.23 0.34 0.29 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166883 NA NA NA NA NA 0.217 NA 5.2501666 1127 19 2732986 2732986 T C exonic SLC39A3 NA synonymous SNV SLC39A3:NM_144564:exon3:c.A708G:p.V236V exonic ENSG00000141873 NA synonymous SNV ENSG00000141873:ENST00000269740:exon3:c.A708G:p.V236V,ENSG00000141873:ENST00000545664:exon3:c.A708G:p.V236V Score=439;Name=lod=81 NA 19p13.3 NA NA NA NA rs759073 0.58 0.58 0.608 0.625399 0.4414 0.6468 0.3905 0.907 0.5787 0.42 0.67 0.38 0.87 0.5234 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539069 NA NA 0.451714 0.836144 ID=COSM439145;OCCURENCE=1(breast) 0.529 NA 5.2501526 1127 1 19202896 19202896 G A exonic ALDH4A1 NA synonymous SNV ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A exonic ENSG00000159423 NA synonymous SNV ENSG00000159423:ENST00000290597:exon12:c.C1251T:p.A417A,ENSG00000159423:ENST00000375341:exon12:c.C1251T:p.A417A,ENSG00000159423:ENST00000538309:exon12:c.C1071T:p.A357A NA NA 1p36.13 Score=769;Name=V$MYOGNF1_01 NA NA NA rs2230707 0.52 0.52 0.463 0.515974 0.4453 0.6002 0.6513 0.4569 0.4857 0.45 0.63 0.61 0.46 0.5069 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.554647 1.554647 NA 0.464767 0.435089 NA 0.522 NA 5.2496996 1127 19 2733250 2733250 C T exonic SLC39A3 NA synonymous SNV SLC39A3:NM_144564:exon3:c.G444A:p.V148V exonic ENSG00000141873 NA synonymous SNV ENSG00000141873:ENST00000269740:exon3:c.G444A:p.V148V,ENSG00000141873:ENST00000545664:exon3:c.G444A:p.V148V NA NA 19p13.3 NA NA NA NA rs61736898 0.1 0.1 0.093 0.101438 0.1471 0.0268 0.0836 0.1399 0.092 0.15 0.02 0.08 0.13 0.1307 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032292 NA NA 0.139279 0.14808 NA 0.138 NA 5.2495876 1127 17 18575127 18575127 G A ncRNA_exonic FOXO3B NA NA NA ncRNA_exonic ENSG00000240445 NA NA NA Score=653;Name=lod=602 NA 17p11.2 NA NA NA NA rs9635680 0.37 0.37 0.336 0.41254 0.4175 0.3899 0.4683 0.553 0.2014 0.34 0.28 0.36 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021843 NA NA NA NA NA 0.297 NA 5.2491666 1127 17 18575675 18575675 T G ncRNA_exonic FOXO3B NA NA NA ncRNA_exonic ENSG00000240445 NA NA NA Score=670;Name=lod=706 NA 17p11.2 NA NA NA NA rs55797270 0.45 0.45 0.337 0.41274 0.4175 0.3889 0.4683 0.5545 0.2014 0.42 0.38 0.45 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301808 NA NA NA NA NA 0.464 NA 5.2491666 1127 7 1097394 1097394 T C exonic GPR146 NA synonymous SNV GPR146:NM_138445:exon1:c.T243C:p.P81P exonic ENSG00000164849 NA synonymous SNV ENSG00000164849:ENST00000297468:exon1:c.T243C:p.P81P,ENSG00000164849:ENST00000397095:exon2:c.T243C:p.P81P,ENSG00000164849:ENST00000444847:exon2:c.T243C:p.P81P NA NA 7p22.3 NA NA NA NA rs11767527 0.07 0.07 0.064 0.0688898 0.1262 NA 0.0821 0.0204 0.137 0.13 NA 0.09 0.02 0.1356 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875063 NA NA 0.155734 0.045455 ID=COSM329380;OCCURENCE=1(breast),2(haematopoietic_and_lymphoid_tissue) 0.13 NA 5.2491326 1127 17 49713300 49713300 G A exonic CA10 NA synonymous SNV CA10:NM_020178:exon7:c.C705T:p.Y235Y,CA10:NM_001082533:exon8:c.C705T:p.Y235Y,CA10:NM_001082534:exon8:c.C705T:p.Y235Y exonic ENSG00000154975 NA synonymous SNV ENSG00000154975:ENST00000451037:exon7:c.C705T:p.Y235Y,ENSG00000154975:ENST00000570565:exon7:c.C480T:p.Y160Y,ENSG00000154975:ENST00000285273:exon8:c.C705T:p.Y235Y,ENSG00000154975:ENST00000340813:exon8:c.C723T:p.Y241Y,ENSG00000154975:ENST00000442502:exon8:c.C705T:p.Y235Y,ENSG00000154975:ENST00000575181:exon8:c.C705T:p.Y235Y NA NA 17q21.33 Score=799;Name=V$PAX2_01 NA NA NA rs11870209 0.39 0.39 0.38 0.364018 0.4911 0.3442 0.4496 0.2481 0.3497 0.49 0.34 0.46 0.23 0.4424 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62374 NA NA 0.484302 0.279392 ID=COSM148301;OCCURENCE=1(breast),1(stomach) 0.428 NA 5.2488646 1127 3 72978434 72978434 T C intronic GXYLT2 NA NA NA ncRNA_exonic ENSG00000242960 NA NA NA Score=734;Name=lod=1281 NA 3p13 NA NA NA NA rs111644690 0.14 0.14 0.148 0.173522 0.0845 0.2808 0.0648 0.1415 0.2751 0.09 0.27 0.07 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.398258 1.398258 NA NA NA NA 0.181 NA 5.2488333 1127 16 83781919 83781919 T C intronic CDH13 NA NA NA ncRNA_intronic ENSG00000260788 NA NA NA NA NA 16q23.3 NA Name=FOXA1_(C-20) NA NA rs889490 0.14 0.14 0.147 0.176717 0.0845 0.0149 0.0735 0.4448 0.1493 0.09 0.02 0.07 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385761 NA NA NA NA NA 0.174 NA 5.2488333 1127 5 35954588 35954588 C T intronic UGT3A1 NA NA NA intronic ENSG00000145626 NA NA NA NA NA 5p13.2 NA Name=CTCF Name=4 NA rs700164 0.32 0.32 0.292 0.330871 0.2366 0.6548 0.4078 0.034 0.4407 0.23 0.64 0.34 0.06 0.2975 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.521513 NA NA 0.217093 0.075806 NA 0.217 NA 5.248807 1127 10 30317838 30317838 A G exonic KIAA1462 NA synonymous SNV KIAA1462:NM_020848:exon3:c.T1239C:p.P413P exonic ENSG00000165757 NA synonymous SNV ENSG00000165757:ENST00000375377:exon3:c.T1239C:p.P413P NA NA 10p11.23 NA NA Name=12 NA rs7920686 0.52 0.52 0.539 0.523363 0.4841 0.3413 0.3833 0.8676 0.3855 0.47 0.34 0.44 0.85 0.4594 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429253 NA NA 0.475061 0.824179 NA 0.551 NA 5.2481056 1127 12 52913517 52913517 G A intronic KRT5 NA NA NA intronic ENSG00000186081 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs638907 0.13 0.13 0.115 0.101837 0.2773 0.0079 0.1254 0.0182 0.1145 0.28 0.01 0.15 0.02 0.1974 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750614 NA NA 0.277209 0.05379 NA 0.203 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056621.1;CLNDSDB=.;CLNDSDBID=. 5.248091 1127 13 19999913 19999913 G A intronic TPTE2 NA NA NA exonic ENSG00000132958 NA stopgain ENSG00000132958:ENST00000462409:exon14:c.C970T:p.R324X NA NA 13q12.11 NA NA NA NA rs2497213 0.28 0.28 0.198 NA NA NA NA NA NA 0.19 0.22 0.34 0.44 0.252 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786425 NA NA NA NA NA NA NA 5.248 1127 21 10862874 10862874 A G intergenic TEKT4P2,TPTE dist=894281;dist=43869 NA NA exonic ENSG00000169861 NA nonsynonymous SNV ENSG00000169861:ENST00000302092:exon2:c.A170G:p.H57R,ENSG00000169861:ENST00000559480:exon2:c.A170G:p.H57R Score=476;Name=lod=115 NA 21p11.2 NA NA NA NA rs1807747 NA NA 0.553 NA NA NA NA NA NA NA NA NA NA 0.5855 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.287529 NA 1 NA NA NA 0.601 NA 5.2478334 1127 11 86209327 86209327 C A intronic ME3 NA NA NA ncRNA_intronic ENSG00000254733 NA NA NA NA NA 11q14.2 Score=884;Name=V$E47_01 NA NA NA rs79241234 0.04 0.04 0.036 0.0351438 0.0855 0.001 0.062 0.003 0.0429 0.09 0.0017 0.07 0.0041 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244185 NA NA NA NA NA 0.014 NA 5.2478333 1127 17 15410363 15410363 T C intronic TVP23C,TVP23C-CDRT4 NA NA NA ncRNA_exonic ENSG00000223878 NA NA NA Score=638;Name=lod=521 NA 17p12 NA NA NA NA rs35469661 0.12 0.12 0.094 0.132188 0.0855 0.2044 0.1671 0.0333 0.2147 0.09 0.22 0.15 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166894 NA NA NA NA NA 0.101 NA 5.2478333 1127 22 35802844 35802844 G A intronic MCM5 NA NA NA ncRNA_intronic ENSG00000240293 NA NA NA NA NA 22q12.3 NA Name=Pol2 NA NA rs4645760 0.04 0.04 0.043 0.0415335 0.0855 0.006 0.0288 0.0234 0.0665 0.08 0.01 0.02 0.03 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168913 NA NA NA NA NA 0.036 NA 5.2478333 1127 4 55133726 55133726 T G exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon7:c.T939G:p.G313G exonic ENSG00000134853 NA synonymous SNV ENSG00000134853:ENST00000257290:exon7:c.T939G:p.G313G,ENSG00000134853:ENST00000509490:exon7:c.T939G:p.G313G NA NA 4q12 NA NA NA NA rs4358459 0.2 0.2 0.178 0.234225 0.1223 0.2034 0.3473 0.2723 0.2495 0.13 0.21 0.27 0.24 0.1775 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204247 NA NA 0.12 0.247617 ID=COSM1666925;OCCURENCE=1(central_nervous_system) 0.261 NA 5.2468666 1127 7 98597139 98597139 G A intronic TRRAP NA NA NA ncRNA_exonic ENSG00000238109 NA NA NA Score=529;Name=lod=189 NA 7q22.1 NA NA NA NA rs2237600 0.15 0.15 0.151 0.13099 0.0865 0.2113 0.1614 0.1467 0.0511 0.09 0.24 0.17 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557185 NA NA NA NA NA 0.109 NA 5.2468333 1127 12 31253995 31253995 C T exonic DDX11 NA synonymous SNV DDX11:NM_001257144:exon20:c.C1983T:p.L661L,DDX11:NM_001257145:exon20:c.C1905T:p.L635L,DDX11:NM_004399:exon20:c.C1983T:p.L661L,DDX11:NM_030653:exon20:c.C1983T:p.L661L,DDX11:NM_152438:exon20:c.C1983T:p.L661L exonic ENSG00000013573 NA synonymous SNV ENSG00000013573:ENST00000228264:exon20:c.C1905T:p.L635L,ENSG00000013573:ENST00000350437:exon20:c.C1983T:p.L661L,ENSG00000013573:ENST00000407793:exon20:c.C1983T:p.L661L,ENSG00000013573:ENST00000542838:exon20:c.C1983T:p.L661L,ENSG00000013573:ENST00000545668:exon20:c.C1983T:p.L661L Score=512;Name=lod=161 NA 12p11.21 NA NA NA NA rs1046456 0.57 0.57 0.577 0.628395 0.4394 0.8065 0.6124 0.6861 0.5726 0.38 0.77 0.57 0.62 0.5259 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581983 NA NA 0.455349 0.667726 NA 0.123 NA 5.2460176 1127 12 13529105 13529105 A C ncRNA_intronic C12orf36 NA NA NA UTR3 ENSG00000180861 ENST00000532841:c.*49T>G NA NA NA NA 12p13.1 NA Name=ERalpha_a NA NA rs12579519 0.09 0.09 0.082 0.0772764 0.1362 0.0744 0.0793 0.0076 0.1125 0.13 0.09 0.09 0.01 0.1178 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325158 NA NA NA NA NA 0.145 NA 5.246 1127 1 247654993 247654993 T C exonic OR2W5 NA synonymous SNV OR2W5:NM_001004698:exon1:c.T564C:p.S188S ncRNA_exonic ENSG00000203664 NA NA NA Score=349;Name=lod=35 NA 1q44 NA NA NA NA rs10925061 0.33 0.33 0.352 0.323682 0.3231 0.2659 0.2536 0.4546 0.2566 0.33 0.29 0.26 0.45 0.2944 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304846 NA NA 0.303256 0.437812 NA 0.333 NA 5.2459106 1127 4 57377377 57377377 G A UTR5 ARL9 NM_206919:c.-121G>A NA NA UTR5 ENSG00000196503 ENST00000360096:c.-121G>A NA NA Score=557;Name=lod=245 NA 4q12 NA NA NA NA rs61732641 0.07 0.07 0.069 0.0646965 0.0169 0.1835 0.0202 0.028 0.0726 0.02 0.21 0.04 0.03 0.0707 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047778 NA NA NA NA NA 0.051 NA 5.2457334 1127 22 24038847 24038847 T C exonic RGL4 NA nonsynonymous SNV RGL4:NM_153615:exon7:c.T1133C:p.V378A exonic ENSG00000159496 NA nonsynonymous SNV ENSG00000159496:ENST00000290691:exon7:c.T1133C:p.V378A,ENSG00000159496:ENST00000423392:exon7:c.T1133C:p.V378A,ENSG00000159496:ENST00000401461:exon8:c.T725C:p.V242A,ENSG00000159496:ENST00000441897:exon10:c.T1300C:p.S434P NA NA 22q11.23 NA NA NA NA rs1007298 0.75 0.75 0.772 0.76857 0.6799 0.6964 0.7594 0.9228 0.7321 0.7 0.69 0.72 0.94 0.7166 0.94 1 T 0.0 B 0.0 B 0.610 N 1.000 P -2.08 N 1.59 T -0.997 T 0.000 T 0.104 -0.814 0.638 -0.409 -0.372 0.711 3.170 -0.814429 NA 0.05 0.691324 0.890831 ID=COSM1599892;OCCURENCE=1(central_nervous_system) 0.812 NA 5.2455094 1127 2 12164827 12164827 T C intergenic MIR4262,TRIB2 dist=187715;dist=692171 NA NA ncRNA_intronic ENSG00000224184 NA NA NA Score=652;Name=lod=596 NA 2p25.1 NA Name=CEBPB NA NA rs12471113 0.6 0.6 0.569 0.579273 0.7545 0.619 0.6916 0.2186 0.7658 0.77 0.6 0.69 0.26 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.825907 1.825907 NA NA NA NA 0.609 NA 5.2455 1127 11 30390132 30390132 A G intergenic ARL14EP,MPPED2 dist=30967;dist=15908 NA NA ncRNA_exonic ENSG00000242353 NA NA NA Score=730;Name=lod=1234 NA 11p14.1 NA Name=JunD NA NA rs594937 0.82 0.82 0.809 0.848043 0.7545 0.7619 0.8746 0.9478 0.8793 0.77 0.77 0.86 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449453 NA NA NA NA NA 0.848 NA 5.2455 1127 14 106877796 106877796 G C intergenic LINC00226,LINC00221 dist=132830;dist=60659 NA NA exonic ENSG00000211959 NA synonymous SNV ENSG00000211959:ENST00000390619:exon2:c.C198G:p.R66R Score=366;Name=lod=41 NA 14q32.33 NA NA NA NA rs34195693 0.27 0.27 0.153 NA NA NA NA NA NA 0.27 0.16 0.24 0.42 0.2545 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401303 NA NA NA NA NA 0.109 NA 5.2455 1127 4 189018486 189018486 A G exonic TRIML2 NA synonymous SNV TRIML2:NM_173553:exon5:c.T486C:p.S162S exonic ENSG00000179046 NA synonymous SNV ENSG00000179046:ENST00000512729:exon5:c.T486C:p.S162S,ENSG00000179046:ENST00000326754:exon6:c.T561C:p.S187S NA NA 4q35.2 NA NA NA NA rs17883789 0.16 0.16 0.129 0.141573 0.1392 0.1935 0.2176 0.093 0.1022 0.13 0.23 0.2 0.1 0.1478 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.328585 NA NA 0.134186 0.120291 NA 0.116 NA 5.2454806 1127 11 117800083 117800083 T C UTR5 TMPRSS13 NM_001206789:c.-61A>G,NM_001077263:c.-61A>G,NM_001244995:c.-61A>G,NM_001206790:c.-61A>G NA NA UTR5 ENSG00000137747 ENST00000528626:c.-61A>G,ENST00000430170:c.-61A>G,ENST00000445164:c.-61A>G,ENST00000526090:c.-61A>G,ENST00000528135:c.-61A>G NA NA NA NA 11q23.3 NA Name=c-Myc,ERalpha_a,p300 Name=18 NA rs10892196 0.6 0.6 0.575 0.621605 0.5398 0.6716 0.611 0.6694 0.5971 0.54 0.66 0.59 0.61 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.728512 1.728512 NA 0.548083 0.684249 NA 0.645 NA 5.2454504 1127 8 71593425 71593425 G A exonic XKR9 NA synonymous SNV XKR9:NM_001011720:exon3:c.G132A:p.A44A exonic ENSG00000221947 NA synonymous SNV ENSG00000221947:ENST00000408926:exon3:c.G132A:p.A44A,ENSG00000221947:ENST00000519350:exon3:c.G132A:p.A44A,ENSG00000221947:ENST00000520092:exon3:c.G132A:p.A44A,ENSG00000221947:ENST00000520030:exon4:c.G132A:p.A44A Score=393;Name=lod=53 NA 8q13.3 NA NA NA NA rs6991329 0.3 0.3 0.316 0.252196 0.5159 0.0734 0.2939 0.2269 0.1697 0.51 0.08 0.31 0.23 0.3923 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281083 NA NA 0.513023 0.262369 NA 0.42 NA 5.2454436 1127 6 150202644 150202644 T C ncRNA_intronic LOC100652739 NA NA NA ncRNA_exonic ENSG00000217733 NA NA NA Score=749;Name=lod=1481 NA 6q25.1 NA NA NA NA rs4870080 0.55 0.55 0.375 0.532149 0.4215 0.8919 0.5173 0.3949 0.4714 0.41 0.88 0.52 0.4 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683322 NA NA NA NA NA 0.326 NA 5.2451666 1127 20 13747441 13747441 A G exonic ESF1 NA nonsynonymous SNV ESF1:NM_001276380:exon8:c.T1649C:p.I550T,ESF1:NM_016649:exon8:c.T1649C:p.I550T exonic ENSG00000089048 NA nonsynonymous SNV ENSG00000089048:ENST00000202816:exon8:c.T1649C:p.I550T NA NA 20p12.1 NA NA NA NA rs3180370 0.78 0.78 0.793 0.805511 0.6879 0.9008 0.8069 0.8132 0.817 0.68 0.9 0.76 0.82 0.7311 0.9 0.51 T 0.094 B 0.026 B 0.500 N 1.000 P 0 N 0.71 T -1.007 T 0.000 T 0.032 -1.545 0.015 0.445 -0.090 0.021 4.754 -1.544738 NA 0.58 0.669186 0.798684 NA 0.739 NA 5.2451474 1128 12 64265724 64265724 C T intronic SRGAP1 NA NA NA ncRNA_exonic ENSG00000242087 NA NA NA Score=577;Name=lod=294 NA 12q14.2 NA NA NA NA rs11175195 0.24 0.24 0.246 0.253794 0.0885 0.3929 0.1254 0.3517 0.2393 0.09 0.39 0.12 0.37 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01631 NA NA NA NA NA 0.275 NA 5.2448333 1128 19 47883086 47883086 T G exonic DHX34 NA synonymous SNV DHX34:NM_014681:exon14:c.T2826G:p.A942A exonic ENSG00000134815 NA synonymous SNV ENSG00000134815:ENST00000328771:exon14:c.T2826G:p.A942A NA NA 19q13.32 NA NA NA NA rs28522883 0.09 0.09 0.109 0.0874601 0.1441 0.0069 0.1009 0.0734 0.1217 0.14 0.01 0.12 0.09 0.1242 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502124 NA NA 0.153837 0.086246 NA 0.065 NA 5.2445296 1128 7 7949059 7949059 A G intergenic LOC729852,GLCCI1 dist=30208;dist=59315 NA NA ncRNA_exonic ENSG00000214998 NA NA NA Score=265;Name=lod=16 NA 7p21.3 NA NA Name=32 NA rs3919526 0.78 0.78 0.805 0.819089 0.7555 0.7173 0.7507 0.9675 0.8374 0.76 0.68 0.74 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331664 NA NA NA NA NA 0.783 NA 5.2445 1128 2 61415492 61415492 A G exonic USP34 NA synonymous SNV USP34:NM_014709:exon80:c.T10386C:p.A3462A exonic ENSG00000115464 NA synonymous SNV ENSG00000115464:ENST00000436269:exon7:c.T1020C:p.A340A,ENSG00000115464:ENST00000398571:exon80:c.T10386C:p.A3462A NA NA 2p15 NA NA NA NA rs14170 0.46 0.46 0.444 0.411741 0.4901 0.3929 0.4164 0.4781 0.2577 0.5 0.38 0.46 0.49 0.4441 0.5 . . . . . . . . 0.000 P . . . . . . . . . 0.046 4.254 -0.572 0.049 -0.555 3.133 0.046111 NA NA 0.488242 0.478701 NA 0.471 NA 5.2442246 1128 6 150201179 150201179 A G ncRNA_intronic LOC100652739 NA NA NA ncRNA_exonic ENSG00000217733 NA NA NA Score=821;Name=lod=2880 NA 6q25.1 NA NA NA NA rs1334510 0.56 0.56 0.532 0.554513 0.4225 0.8919 0.5274 0.4735 0.4714 0.41 0.88 0.53 0.45 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.597304 NA NA NA NA NA 0.616 NA 5.2441666 1128 9 68427956 68427956 T C ncRNA_intronic LOC642236 NA NA NA ncRNA_intronic ENSG00000215548 NA NA NA NA NA 9q13 NA NA Name=20 NA rs4316243 NA NA 0.409 0.421925 0.4225 0.4474 0.415 0.3986 0.4315 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305717 NA NA NA NA NA NA NA 5.2441666 1128 7 143042837 143042837 C T exonic CLCN1 NA synonymous SNV CLCN1:NM_000083:exon17:c.C2154T:p.D718D exonic ENSG00000188037 NA synonymous SNV ENSG00000188037:ENST00000343257:exon17:c.C2154T:p.D718D NA NA 7q34 NA Name=GABP,HMGN3,CTCF,HA-E2F1,CCNT2 NA NA rs2272251 0.48 0.48 0.457 0.478235 0.4592 0.6141 0.585 0.3593 0.4427 0.46 0.63 0.54 0.29 0.5397 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147259 NA NA 0.423623 0.350327 ID=COSM452527;OCCURENCE=1(breast) 0.464 NA 5.2441436 1128 10 30317826 30317826 A G exonic KIAA1462 NA synonymous SNV KIAA1462:NM_020848:exon3:c.T1251C:p.Y417Y exonic ENSG00000165757 NA synonymous SNV ENSG00000165757:ENST00000375377:exon3:c.T1251C:p.Y417Y NA NA 10p11.23 NA NA Name=12 NA rs7920682 0.53 0.53 0.559 0.533347 0.4841 0.3413 0.3847 0.9138 0.3732 0.47 0.34 0.44 0.88 0.4621 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234961 NA NA 0.476449 0.844872 NA 0.558 NA 5.2440176 1128 2 24557641 24557641 T C intronic ITSN2 NA NA NA ncRNA_intronic ENSG00000233747 NA NA NA Score=678;Name=lod=761 NA 2p23.3 NA NA NA NA rs76453654 0.07 0.07 0.062 0.0634984 0.0895 0.0685 0.0562 0.0401 0.0685 0.09 0.07 0.06 0.06 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121477 NA NA NA NA NA 0.043 NA 5.2438333 1128 7 116612727 116612727 G A intronic ST7 NA NA NA ncRNA_exonic ENSG00000213050 NA NA NA Score=758;Name=lod=1603 NA 7q31.2 NA NA NA NA rs74217565 0.1 0.1 0.077 0.0896565 0.0895 0.1438 0.0634 0.0885 0.0542 0.09 0.14 0.08 0.08 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005846 NA NA NA NA NA 0.087 NA 5.2438333 1128 22 30412759 30412759 T C intronic MTMR3 NA NA NA ncRNA_intronic ENSG00000227117 NA NA NA NA NA 22q12.2 NA NA Name=15 NA rs17647135 0.09 0.09 0.086 0.0940495 0.0895 0.0794 0.1052 0.0802 0.1247 0.1 0.08 0.09 0.09 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.559111 1.559111 NA NA NA NA 0.072 NA 5.2438333 1128 12 56335107 56335107 A G exonic DGKA NA synonymous SNV DGKA:NM_001345:exon14:c.A1173G:p.Q391Q,DGKA:NM_201444:exon14:c.A1173G:p.Q391Q,DGKA:NM_201554:exon14:c.A1173G:p.Q391Q,DGKA:NM_201445:exon15:c.A1173G:p.Q391Q exonic ENSG00000065357 NA synonymous SNV ENSG00000065357:ENST00000552903:exon2:c.A78G:p.Q26Q,ENSG00000065357:ENST00000555218:exon13:c.A930G:p.Q310Q,ENSG00000065357:ENST00000331886:exon14:c.A1173G:p.Q391Q,ENSG00000065357:ENST00000394147:exon14:c.A1173G:p.Q391Q,ENSG00000065357:ENST00000551156:exon14:c.A1173G:p.Q391Q Score=512;Name=lod=161 NA 12q13.2 Score=900;Name=V$COUP_01 NA NA NA rs1136082 0.84 0.84 0.871 0.847644 0.7952 0.7837 0.7968 0.9599 0.8517 0.81 0.8 0.76 0.97 0.8145 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.698505 2.698505 NA 0.813372 0.931457 NA 0.92 NA 5.2435946 1128 1 109734157 109734157 T C intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA Name=CTCF_(C-20),Rad21,ZBTB7A_(SC-34508),USF-1,CTCF,USF2,CTCFL_(SC-98982),E2F6_(H-50),YY1,ATF3,CTCF_(SC-5916) Name=11 NA rs606066 0.77 0.77 0.738 0.764377 0.7565 0.998 0.8156 0.4652 0.8998 0.78 1 0.81 0.44 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042558 NA NA NA NA NA 0.79 NA 5.2435 1128 1 109734225 109734225 G T intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA Name=USF-1,CTCF,Rad21,ZBTB7A_(SC-34508),CTCF_(C-20),YY1,ATF3,E2F6_(H-50),USF2 Name=11 NA rs643785 0.75 0.75 0.706 0.73123 0.7565 0.998 0.804 0.3548 0.8875 0.78 1 0.8 0.37 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244333 NA NA NA NA NA 0.761 NA 5.2435 1128 1 247655275 247655275 T C exonic OR2W5 NA synonymous SNV OR2W5:NM_001004698:exon1:c.T846C:p.H282H ncRNA_exonic ENSG00000203664 NA NA NA Score=272;Name=lod=17 NA 1q44 NA NA NA NA rs12141850 0.33 0.33 0.345 0.323482 0.3241 0.2619 0.2406 0.4629 0.2566 0.33 0.29 0.25 0.43 0.2956 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717758 NA NA 0.303953 0.449841 NA 0.341 NA 5.2430136 1128 17 46052793 46052793 A G intronic CDK5RAP3 NA NA NA intronic ENSG00000108465 NA NA NA NA NA 17q21.32 NA Name=CTCF Name=4 NA rs2597172 0.72 0.72 0.715 0.689097 0.7575 0.7847 0.6614 0.5779 0.6902 0.77 0.78 0.72 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220182 NA NA NA NA NA 0.696 NA 5.2425 1128 12 56031611 56031611 A G exonic OR10P1 NA synonymous SNV OR10P1:NM_206899:exon1:c.A936G:p.S312S exonic ENSG00000175398 NA synonymous SNV ENSG00000175398:ENST00000309675:exon1:c.A936G:p.S312S NA NA 12q13.2 NA NA NA NA rs11171631 0.25 0.25 0.242 0.228435 0.1093 0.5367 0.1081 0.2156 0.136 0.12 0.55 0.12 0.19 0.1891 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027562 NA NA 0.125814 0.208352 NA 0.138 NA 5.2424526 1128 17 65574437 65574437 A G intronic PITPNC1 NA NA NA intronic ENSG00000154217 NA NA NA NA NA 17q24.2 NA Name=BATF,EBF1_(C-8),ELF1_(SC-631),IRF4_(M-17),Pol2,TBP,TCF12,NFKB,Pol2-4H8,EBF Name=22 NA rs8082003 0.52 0.52 0.522 0.555911 0.3847 0.7599 0.5591 0.4259 0.6953 0.39 0.77 0.49 0.47 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449804 NA NA 0.373426 0.453757 NA 0.601 NA 5.241874 1128 3 156870059 156870059 C T intronic CCNL1 NA NA NA intronic ENSG00000163660 NA NA NA Score=284;Name=lod=19 NA 3q25.31 NA NA Name=2 NA rs73154633 0.27 0.27 0.218 0.241813 0.2584 0.3333 0.4784 0.0787 0.183 0.25 0.36 0.43 0.08 0.2565 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130702 NA NA 0.24407 0.116659 NA 0.174 NA 5.24103 1128 15 83713442 83713442 A C intronic BTBD1 NA NA NA ncRNA_exonic ENSG00000259308 NA NA NA Score=509;Name=lod=156 NA 15q25.2 NA NA NA NA rs4842993 0.19 0.19 0.184 0.169928 0.0924 0.379 0.2522 0.1104 0.0562 0.1 0.38 0.2 0.11 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43652 NA NA NA NA NA 0.152 NA 5.2409333 1128 19 58929052 58929052 G A exonic ZNF584 NA synonymous SNV ZNF584:NM_173548:exon4:c.G1167A:p.K389K exonic ENSG00000171574 NA synonymous SNV ENSG00000171574:ENST00000306910:exon4:c.G1167A:p.K389K,ENSG00000171574:ENST00000593920:exon4:c.G1032A:p.K344K Score=361;Name=lod=39 NA 19q13.43 NA NA NA NA rs3764535 0.46 0.46 0.476 0.446885 0.496 0.3254 0.3573 0.5976 0.3814 0.49 0.32 0.4 0.61 0.4495 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.968313 NA NA 0.480581 0.587381 NA 0.536 NA 5.2405856 1128 6 90368380 90368380 G A exonic MDN1 NA synonymous SNV MDN1:NM_014611:exon89:c.C14970T:p.A4990A exonic ENSG00000112159 NA synonymous SNV ENSG00000112159:ENST00000369393:exon89:c.C14970T:p.A4990A,ENSG00000112159:ENST00000428876:exon89:c.C14970T:p.A4990A NA NA 6q15 NA NA NA NA rs34732313 0.09 0.09 0.085 0.104034 0.1581 0.0476 0.085 0.0605 0.1789 0.15 0.04 0.07 0.06 0.1241 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042952 NA NA 0.144186 0.063096 NA 0.138 NA 5.2402806 1128 1 100164000 100164000 A G ncRNA_intronic MIR548AA1,MIR548D1 NA NA NA ncRNA_exonic ENSG00000223656 NA NA NA Score=507;Name=lod=153 NA 1p21.2 NA NA NA NA rs10747504 0.48 0.48 0.475 0.457867 0.4264 0.3938 0.4885 0.618 0.318 0.42 0.42 0.49 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60157 NA NA NA NA NA 0.391 NA 5.2402666 1128 10 105798872 105798872 T C exonic COL17A1 NA synonymous SNV COL17A1:NM_000494:exon44:c.A2904G:p.P968P exonic ENSG00000065618 NA synonymous SNV ENSG00000065618:ENST00000369733:exon41:c.A2769G:p.P923P,ENSG00000065618:ENST00000353479:exon44:c.A2904G:p.P968P Score=405;Name=lod=59 NA 10q24.33 Score=836;Name=V$GR_Q6 NA NA NA rs2274100 0.72 0.72 0.673 0.68151 0.8171 0.7708 0.7695 0.4402 0.7137 0.81 0.8 0.78 0.42 0.7768 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245268 NA NA 0.832907 0.507036 NA 0.746 NA 5.2398596 1128 17 7682605 7682605 C T exonic DNAH2 NA synonymous SNV DNAH2:NM_020877:exon35:c.C5586T:p.I1862I exonic ENSG00000183914 NA synonymous SNV ENSG00000183914:ENST00000389173:exon35:c.C5586T:p.I1862I,ENSG00000183914:ENST00000572933:exon36:c.C5586T:p.I1862I NA NA 17p13.1 NA NA NA NA rs17806045 0.07 0.07 0.072 0.0714856 0.169 0.001 0.1527 0.0038 0.0777 0.16 NA 0.11 0.01 0.1143 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590216 NA NA 0.14407 0.03064 NA 0.043 NA 5.2392966 1128 19 21688495 21688495 C T UTR5 ZNF429 NM_001001415:c.-79C>T NA NA UTR5 ENSG00000197013 ENST00000358491:c.-79C>T,ENST00000597078:c.-79C>T NA NA NA NA 19p12 NA Name=NF-YA,TAF1,Pol2,TAF7_(SQ-8),YY1_(C-20),ELF1_(SC-631),p300,CHD2_(N-1250),Pol2(b),YY1,Pol2-4H8,HEY1,NFKB,IRF1,TBP Name=140 NA rs73017722 0.56 0.56 0.534 0.555511 0.5388 0.6438 0.5288 0.4758 0.6084 0.54 0.67 0.55 0.48 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051989 NA NA 0.555311 0.478324 NA 0.471 NA 5.2392224 1128 5 75469889 75469889 A G intronic SV2C NA NA NA ncRNA_exonic ENSG00000254893 NA NA NA Score=757;Name=lod=1585 NA 5q13.3 NA NA NA NA rs116002807 0.02 0.02 0.011 0.0139776 0.0388 NA 0.0173 0.0061 0.0112 0.04 NA 0.01 0.01 0.0236 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.57515 2.57515 NA 0.03186 0.009305 NA 0.007 NA 5.2390733 1128 10 27508758 27508758 T C exonic ACBD5 NA synonymous SNV ACBD5:NM_001271512:exon5:c.A513G:p.P171P,ACBD5:NM_001042473:exon6:c.A414G:p.P138P,ACBD5:NM_145698:exon6:c.A519G:p.P173P exonic ENSG00000107897 NA synonymous SNV ENSG00000107897:ENST00000375897:exon4:c.A192G:p.P64P,ENSG00000107897:ENST00000375901:exon5:c.A192G:p.P64P,ENSG00000107897:ENST00000375888:exon6:c.A546G:p.P182P,ENSG00000107897:ENST00000375905:exon6:c.A414G:p.P138P,ENSG00000107897:ENST00000396271:exon6:c.A519G:p.P173P,ENSG00000107897:ENST00000412279:exon7:c.A447G:p.P149P,ENSG00000107897:ENST00000426079:exon7:c.A573G:p.P191P Score=530;Name=lod=190 NA 10p12.1 NA NA NA NA rs10764690 0.35 0.35 0.325 0.317891 0.4652 0.4147 0.3905 0.0696 0.3507 0.47 0.36 0.41 0.09 0.4499 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111617 NA NA 0.512558 0.162052 ID=COSM1178411,COSM1178410;OCCURENCE=1(prostate) 0.246 NA 5.2390086 1128 19 6073506 6073506 C T intronic RFX2 NA NA NA ncRNA_exonic ENSG00000267589 NA NA NA Score=675;Name=lod=736 NA 19p13.3 NA NA NA NA rs687789 0.2 0.2 0.186 0.216454 0.0944 0.0804 0.0865 0.5749 0.09 0.09 0.08 0.09 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39205 NA NA NA NA NA NA NA 5.2389333 1128 19 6073507 6073507 C T intronic RFX2 NA NA NA ncRNA_exonic ENSG00000267589 NA NA NA Score=675;Name=lod=736 NA 19p13.3 NA NA NA NA rs687791 0.2 0.2 0.18 0.216454 0.0944 0.0804 0.0865 0.5749 0.09 0.09 0.08 0.09 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335157 NA NA NA NA NA NA NA 5.2389333 1128 1 111436857 111436857 T G intronic CD53 NA NA NA intronic ENSG00000143119 NA NA NA NA NA 1p13.3 NA Name=CTCF Name=7 NA rs1578956 0.5 0.5 0.203 0.559704 0.7614 0.501 0.7248 0.3336 0.6012 0.63 0.45 0.6 0.27 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356473 NA NA NA NA NA NA NA 5.2386 1128 1 111436858 111436858 C T intronic CD53 NA NA NA intronic ENSG00000143119 NA NA NA NA NA 1p13.3 NA Name=CTCF Name=7 NA rs1936943 0.5 0.5 0.103 0.559704 0.7614 0.501 0.7248 0.3336 0.6012 0.63 0.45 0.6 0.27 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233452 NA NA NA NA NA NA NA 5.2386 1128 18 48331524 48331524 G A exonic MRO NA synonymous SNV MRO:NM_001127174:exon4:c.C429T:p.D143D,MRO:NM_001127175:exon4:c.C471T:p.D157D,MRO:NM_001127176:exon4:c.C471T:p.D157D,MRO:NM_031939:exon5:c.C429T:p.D143D exonic ENSG00000134042 NA synonymous SNV ENSG00000134042:ENST00000431965:exon4:c.C471T:p.D157D,ENSG00000134042:ENST00000436348:exon4:c.C471T:p.D157D,ENSG00000134042:ENST00000588444:exon4:c.C429T:p.D143D,ENSG00000134042:ENST00000592966:exon4:c.C429T:p.D143D,ENSG00000134042:ENST00000256425:exon5:c.C429T:p.D143D,ENSG00000134042:ENST00000398439:exon5:c.C429T:p.D143D,ENSG00000134042:ENST00000428869:exon6:c.C429T:p.D143D Score=352;Name=lod=36 NA 18q21.2 NA NA NA NA rs2586776 0.45 0.45 0.47 0.452875 0.4801 0.3363 0.4193 0.4448 0.5798 0.5 0.35 0.46 0.49 0.4736 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.198529 NA NA 0.474535 0.456196 ID=COSM1389008,COSM1389007;OCCURENCE=1(large_intestine) 0.507 NA 5.2384316 1128 2 89185654 89185654 A G intergenic MIR4436A,NONE dist=73686;dist=NONE NA NA exonic ENSG00000211598 NA synonymous SNV ENSG00000211598:ENST00000390243:exon2:c.A348G:p.Q116Q NA NA 2p11.2 NA Name=Pol2 NA NA rs111711225 0.07 0.07 0.069 0.0894569 0.0915 0.0129 0.0634 0.1014 0.1687 0.09 0.01 0.04 0.11 0.0873 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.516864 NA NA 0.083233 0.129658 NA 0.058 NA 5.237967 1128 15 64821498 64821498 A G intronic ZNF609 NA NA NA ncRNA_exonic ENSG00000248415 NA NA NA Score=799;Name=lod=2348 NA 15q22.31 NA NA NA NA rs7165034 0.17 0.17 0.176 0.186901 0.0954 0.0466 0.0937 0.4501 0.136 0.09 0.04 0.11 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616771 NA NA NA NA NA 0.21 NA 5.2379333 1128 15 84408896 84408896 C G intronic ADAMTSL3 NA NA NA ncRNA_exonic ENSG00000261665 NA NA NA Score=615;Name=lod=420 NA 15q25.2 NA NA NA NA rs59283606 0.1 0.1 0.093 0.145966 0.0954 0.2341 0.0591 0.056 0.2904 0.09 0.2 0.05 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645124 NA NA NA NA NA 0.058 NA 5.2379333 1128 22 22721652 22721652 G A intergenic LOC96610,ZNF280B dist=44328;dist=117120 NA NA ncRNA_exonic ENSG00000237428 NA NA NA Score=770;Name=lod=1791 NA 22q11.22 NA Name=BRF2 NA NA rs762466 0.75 0.75 0.703 0.726637 0.7624 0.8988 0.8098 0.4781 0.7894 0.76 0.91 0.8 0.49 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584973 NA NA NA NA NA 0.601 NA 5.2376 1128 11 1264890 1264890 A G exonic MUC5B NA synonymous SNV MUC5B:NM_002458:exon31:c.A6780G:p.R2260R exonic ENSG00000117983 NA synonymous SNV ENSG00000117983:ENST00000447027:exon31:c.A6789G:p.R2263R,ENSG00000117983:ENST00000529681:exon31:c.A6780G:p.R2260R NA NA 11p15.5 NA NA NA NA rs12286473 0.07 0.07 0.027 0.0976438 0.1779 0.0208 0.0922 0.0446 0.1697 0.12 0.02 0.09 0.04 0.1392 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285016 NA NA 0.112406 0.026037 NA NA NA 5.2371606 1128 11 77524722 77524722 T G intronic RSF1 NA NA NA ncRNA_exonic ENSG00000219529 NA NA NA Score=497;Name=lod=140 NA 11q14.1 NA NA NA NA rs58914857 0.15 0.15 0.133 0.142173 0.0964 0.1766 0.1902 0.1362 0.1278 0.1 0.19 0.16 0.16 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579495 NA NA NA NA NA 0.152 NA 5.2369333 1128 14 106881230 106881230 C T intergenic LINC00226,LINC00221 dist=136264;dist=57225 NA NA downstream ENSG00000253467 NA NA NA NA NA 14q32.33 NA Name=EBF,EBF1_(C-8) Name=2 NA rs77658043 0.27 0.27 0.247 0.29972 0.2634 0.1607 0.2248 0.4357 0.3497 0.27 0.17 0.22 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104073 NA NA NA NA NA 0.203 NA 5.2366 1128 20 10366898 10366898 T C intergenic SNAP25,MKKS dist=78832;dist=18530 NA NA ncRNA_exonic ENSG00000230750 NA NA NA Score=678;Name=lod=758 NA 20p12.2 NA NA Name=30 NA rs2223654 0.72 0.72 0.704 0.739217 0.7634 0.5288 0.8501 0.8684 0.6779 0.75 0.53 0.82 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563095 NA NA NA NA NA 0.739 NA 5.2366 1128 7 1097895 1097895 A G exonic GPR146 NA synonymous SNV GPR146:NM_138445:exon1:c.A744G:p.P248P exonic ENSG00000164849 NA synonymous SNV ENSG00000164849:ENST00000297468:exon1:c.A744G:p.P248P,ENSG00000164849:ENST00000397095:exon2:c.A744G:p.P248P,ENSG00000164849:ENST00000444847:exon2:c.A744G:p.P248P NA NA 7p22.3 NA NA NA NA rs61910751 0.07 0.07 0.067 0.0688898 0.1262 NA 0.0821 0.0204 0.137 0.13 NA 0.09 0.02 0.1465 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.11843 NA NA 0.157478 0.046776 NA 0.08 NA 5.2364886 1128 15 20874799 20874799 A C ncRNA_exonic NBEAP1 NA NA NA ncRNA_exonic ENSG00000258590 NA NA NA Score=659;Name=lod=635 NA 15q11.2 NA NA NA NA rs11633771 NA NA 0.337 NA NA NA NA NA NA NA NA NA NA 0.4303 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109973 NA NA NA NA NA 0.268 NA 5.2363666 1128 2 105979730 105979730 C A intronic FHL2 NA NA NA ncRNA_intronic ENSG00000238273 NA NA NA NA NA 2q12.1 NA NA Name=14 NA rs2278502 0.29 0.29 0.292 0.277356 0.3867 0.2173 0.3285 0.1415 0.3742 0.39 0.22 0.31 0.19 0.334 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44495 NA NA 0.376628 0.184975 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041648.1;CLNDSDB=.;CLNDSDBID=. 5.2360053 1128 19 960266 960266 C T intronic ARID3A NA NA NA intronic ENSG00000116017 NA NA NA NA NA 19p13.3 NA Name=CTCF Name=11 NA rs1683584 0.6 0.6 0.575 0.562101 0.7644 0.4831 0.536 0.5083 0.5266 0.75 0.48 0.61 0.5 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026584 NA NA NA NA NA 0.674 NA 5.2356 1128 20 48522585 48522585 G A exonic SPATA2 NA synonymous SNV SPATA2:NM_001135773:exon3:c.C1134T:p.S378S,SPATA2:NM_006038:exon3:c.C1134T:p.S378S exonic ENSG00000158480 NA synonymous SNV ENSG00000158480:ENST00000543716:exon2:c.C723T:p.S241S,ENSG00000158480:ENST00000289431:exon3:c.C1134T:p.S378S,ENSG00000158480:ENST00000422556:exon3:c.C1134T:p.S378S NA NA 20q13.13 NA NA Name=8 NA rs492702 0.48 0.48 0.445 0.488618 0.4503 0.7728 0.585 0.1225 0.6616 0.45 0.79 0.53 0.14 0.5175 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06171 NA NA 0.463721 0.181571 NA 0.355 NA 5.2351456 1129 11 77446051 77446051 T C intronic RSF1 NA NA NA ncRNA_exonic ENSG00000227376 NA NA NA Score=755;Name=lod=1565 NA 11q14.1 NA NA NA NA rs73491984 0.19 0.19 0.158 0.19389 0.0984 0.1746 0.2161 0.3177 0.1288 0.1 0.19 0.19 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114233 NA NA NA NA NA 0.203 NA 5.2349333 1129 14 94772429 94772429 G A exonic SERPINA6 NA synonymous SNV SERPINA6:NM_001756:exon4:c.C1011T:p.D337D exonic ENSG00000170099 NA synonymous SNV ENSG00000170099:ENST00000341584:exon4:c.C1011T:p.D337D NA NA 14q32.13 NA NA NA NA rs2228543 0.15 0.15 0.141 0.153754 0.1531 0.0069 0.0965 0.3343 0.1022 0.16 0.01 0.1 0.34 0.1361 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362845 NA NA 0.142558 0.330685 NA 0.188 NA 5.2349086 1129 12 121017171 121017171 A G exonic POP5 NA synonymous SNV POP5:NM_198202:exon4:c.T292C:p.L98L,POP5:NM_015918:exon5:c.T442C:p.L148L exonic ENSG00000167272 NA synonymous SNV ENSG00000167272:ENST00000341039:exon4:c.T292C:p.L98L,ENSG00000167272:ENST00000357500:exon5:c.T442C:p.L148L NA NA 12q24.31 NA Name=Pol2-4H8,TAL1_(SC-12984) Name=16 NA rs7174 0.8 0.8 0.798 0.786542 0.7962 0.8413 0.8271 0.708 0.7975 0.8 0.84 0.82 0.75 0.8147 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063841 NA NA 0.821047 0.709941 NA 0.775 NA 5.2347196 1129 2 216299629 216299629 C G intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA Name=JunD,c-Jun Name=44 NA rs1250247 0.86 0.86 0.859 0.792532 0.7654 0.9256 0.7925 0.8979 0.5409 0.78 0.95 0.81 0.89 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387789 NA NA NA NA NA 0.812 NA 5.2346 1129 12 31242399 31242399 T C exonic DDX11 NA synonymous SNV DDX11:NM_001257144:exon8:c.T855C:p.C285C,DDX11:NM_001257145:exon8:c.T777C:p.C259C,DDX11:NM_004399:exon8:c.T855C:p.C285C,DDX11:NM_030653:exon8:c.T855C:p.C285C,DDX11:NM_152438:exon8:c.T855C:p.C285C exonic ENSG00000013573 NA synonymous SNV ENSG00000013573:ENST00000438391:exon7:c.T768C:p.C256C,ENSG00000013573:ENST00000228264:exon8:c.T777C:p.C259C,ENSG00000013573:ENST00000350437:exon8:c.T855C:p.C285C,ENSG00000013573:ENST00000407793:exon8:c.T855C:p.C285C,ENSG00000013573:ENST00000539049:exon8:c.T855C:p.C285C,ENSG00000013573:ENST00000540935:exon8:c.T777C:p.C259C,ENSG00000013573:ENST00000542838:exon8:c.T855C:p.C285C,ENSG00000013573:ENST00000545668:exon8:c.T855C:p.C285C NA NA 12p11.21 Score=905;Name=V$CEBP_01 NA NA NA rs3881298 0.52 0.52 0.547 0.645567 0.4682 0.7748 0.6311 0.7179 0.6074 0.34 0.69 0.53 0.58 0.5214 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.244441 NA NA 0.442791 0.669315 NA 0.181 NA 5.2342756 1129 19 2078221 2078221 G C exonic MOB3A NA synonymous SNV MOB3A:NM_130807:exon3:c.C339G:p.L113L exonic ENSG00000172081 NA synonymous SNV ENSG00000172081:ENST00000592280:exon1:c.C339G:p.L113L,ENSG00000172081:ENST00000357066:exon3:c.C339G:p.L113L NA NA 19p13.3 NA NA NA NA rs11541046 0.13 0.13 0.136 0.152756 0.1352 0.0804 0.1081 0.1906 0.226 0.12 0.08 0.11 0.21 0.148 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.249497 NA NA 0.149884 0.19133 NA 0.08 NA 5.2335826 1129 12 6457062 6457062 T C exonic SCNN1A NA nonsynonymous SNV SCNN1A:NM_001159576:exon12:c.A2164G:p.T722A,SCNN1A:NM_001038:exon13:c.A1987G:p.T663A,SCNN1A:NM_001159575:exon13:c.A2056G:p.T686A exonic ENSG00000111319 NA nonsynonymous SNV ENSG00000111319:ENST00000540037:exon11:c.A1087G:p.T363A,ENSG00000111319:ENST00000360168:exon12:c.A2164G:p.T722A,ENSG00000111319:ENST00000228916:exon13:c.A1987G:p.T663A,ENSG00000111319:ENST00000358945:exon13:c.A2053G:p.T685A,ENSG00000111319:ENST00000543768:exon13:c.A2056G:p.T686A NA NA 12p13.31 NA NA NA NA rs2228576 0.72 0.72 0.746 0.740615 0.6938 0.496 0.7392 0.9486 0.7607 0.68 0.56 0.75 0.95 0.7133 0.95 1 T 0.0 B 0.0 B 0.520 N 1.000 P -2.08 N -0.08 T -0.939 T 0.000 T 0.023 -1.24 0.055 1.89 0.425 -0.586 3.471 -1.240246 NA 1 0.692918 0.899952 NA 0.833 NA 5.2333154 1129 21 37505138 37505138 A G ncRNA_exonic CBR3-AS1 NA NA NA ncRNA_exonic ENSG00000214889,ENSG00000236830 NA NA NA Score=749;Name=lod=1476 NA 21q22.12 NA NA NA NA rs13047406 0.36 0.36 0.328 0.314896 0.4334 0.4335 0.4553 0.0809 0.2873 0.44 0.43 0.43 0.1 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149837 NA NA NA NA NA 0.384 NA 5.2332666 1129 11 117310022 117310022 A G exonic DSCAML1 NA synonymous SNV DSCAML1:NM_020693:exon23:c.T4284C:p.T1428T exonic ENSG00000177103 NA synonymous SNV ENSG00000177103:ENST00000527706:exon21:c.T3474C:p.T1158T,ENSG00000177103:ENST00000321322:exon23:c.T4284C:p.T1428T NA NA 11q23.3 NA NA NA NA rs11216387 0.3 0.3 0.279 0.304113 0.1233 0.5605 0.3012 0.3116 0.2178 0.12 0.56 0.28 0.31 0.2038 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403974 NA NA 0.106611 0.282144 ID=COSM147329;OCCURENCE=1(stomach) 0.275 NA 5.2329556 1129 17 61573761 61573761 T C exonic ACE NA synonymous SNV ACE:NM_152830:exon12:c.T1665C:p.F555F,ACE:NM_000789:exon23:c.T3387C:p.F1129F exonic ENSG00000159640,ENSG00000264813 NA synonymous SNV ENSG00000159640:ENST00000290863:exon12:c.T1665C:p.F555F,ENSG00000159640:ENST00000490216:exon12:c.T1665C:p.F555F,ENSG00000264813:ENST00000577647:exon12:c.T1665C:p.F555F,ENSG00000159640:ENST00000290866:exon23:c.T3387C:p.F1129F,ENSG00000159640:ENST00000428043:exon23:c.T3387C:p.F1129F Score=563;Name=lod=260 NA 17q23.3 NA NA NA NA rs4362 0.56 0.56 0.524 0.58746 0.4433 0.6081 0.5893 0.6225 0.6656 0.45 0.64 0.59 0.62 0.5233 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442309 NA NA 0.467442 0.57921 NA 0.594 NA 5.2326246 1129 17 56424710 56424710 T C ncRNA_intronic BZRAP1-AS1 NA NA NA ncRNA_intronic ENSG00000265148 NA NA NA NA NA 17q22 NA NA Name=2 NA rs757485 0.46 0.46 0.451 0.478634 0.4344 0.5516 0.3718 0.4554 0.5562 0.45 0.55 0.34 0.44 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280296 NA NA NA NA NA 0.406 NA 5.2322666 1129 19 43383801 43383801 G A UTR5 PSG1 NM_001184826:c.-68C>T,NM_001184825:c.-68C>T,NM_006905:c.-68C>T NA NA UTR5 ENSG00000231924 ENST00000436291:c.-68C>T,ENST00000595124:c.-68C>T,ENST00000403380:c.-68C>T,ENST00000312439:c.-68C>T,ENST00000244296:c.-68C>T NA NA NA NA 19q13.2 NA NA Name=3 NA rs12459171 0.2 0.2 0.174 0.251398 0.1014 0.4187 0.1787 0.1899 0.3681 0.1 0.41 0.12 0.17 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053281 NA NA NA NA NA 0.174 NA 5.2319334 1129 9 108522175 108522175 C T intronic TMEM38B NA NA NA ncRNA_exonic ENSG00000232486 NA NA NA Score=634;Name=lod=502 NA 9q31.2 NA NA NA NA rs10114077 0.31 0.31 0.308 0.322883 0.1014 0.4415 0.2507 0.559 0.1605 0.1 0.42 0.23 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103268 NA NA NA NA NA 0.319 NA 5.2319333 1129 10 38407519 38407519 A G exonic ZNF37A NA synonymous SNV ZNF37A:NM_001178101:exon7:c.A1440G:p.S480S,ZNF37A:NM_003421:exon7:c.A1440G:p.S480S,ZNF37A:NM_001007094:exon8:c.A1440G:p.S480S exonic ENSG00000075407 NA synonymous SNV ENSG00000075407:ENST00000361085:exon7:c.A1440G:p.S480S,ENSG00000075407:ENST00000351773:exon8:c.A1440G:p.S480S NA NA 10p11.1 NA Name=ZNF274,SETDB1,KAP1 NA NA rs176889 0.5 0.5 0.486 0.46905 0.4901 0.5595 0.513 0.4947 0.2883 0.5 0.53 0.5 0.47 0.456 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615338 NA NA 0.488837 0.50749 NA 0.507 NA 5.2317296 1129 9 134406131 134406131 G T intronic UCK1 NA NA NA intronic ENSG00000130717 NA NA NA NA NA 9q34.13 NA Name=CTCF,E2F6_(H-50),CTCFL_(SC-98982),ZBTB7A_(SC-34508) Name=75 NA rs3904960 0.75 0.75 0.731 0.761182 0.7684 0.9266 0.7277 0.5212 0.9315 0.77 0.92 0.75 0.52 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124726 NA NA NA NA NA 0.739 NA 5.2316 1129 14 106881223 106881223 G A intergenic LINC00226,LINC00221 dist=136257;dist=57232 NA NA downstream ENSG00000253467 NA NA NA NA NA 14q32.33 NA Name=EBF1_(C-8),EBF Name=2 NA rs111324784 NA NA 0.23 0.298722 0.2684 0.1607 0.2248 0.4312 0.3456 NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014833 NA NA NA NA NA 0.21 NA 5.2316 1129 1 152185750 152185750 G A exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.C8355T:p.Y2785Y exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C8355T:p.Y2785Y NA NA 1q21.3 NA NA NA NA rs12729662 0.32 0.32 0.345 0.342652 0.17 0.6181 0.415 0.1172 0.4898 0.18 0.63 0.35 0.14 0.2651 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328928 NA NA NA NA ID=COSM1334092;OCCURENCE=1(large_intestine) 0.217 NA 5.2315666 1129 19 2433890 2433890 A G exonic LMNB2 NA synonymous SNV LMNB2:NM_032737:exon8:c.T1416C:p.G472G exonic ENSG00000176619 NA synonymous SNV ENSG00000176619:ENST00000325327:exon8:c.T1416C:p.G472G,ENSG00000176619:ENST00000582871:exon8:c.T1356C:p.G452G NA NA 19p13.3 NA NA NA NA rs11084940 0.63 0.63 0.624 0.63758 0.4374 0.6349 0.6643 0.8502 0.5399 0.46 0.67 0.62 0.84 0.5461 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492544 NA NA 0.452093 0.803361 ID=COSM439143;OCCURENCE=1(breast) 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117495.2;CLNDSDB=.;CLNDSDBID=. 5.2310736 1129 22 18209718 18209718 C T exonic BCL2L13 NA synonymous SNV BCL2L13:NM_001270733:exon2:c.C36T:p.N12N,BCL2L13:NM_001270727:exon5:c.C804T:p.N268N,BCL2L13:NM_001270730:exon5:c.C390T:p.N130N,BCL2L13:NM_001270726:exon6:c.C948T:p.N316N,BCL2L13:NM_001270729:exon6:c.C390T:p.N130N,BCL2L13:NM_001270731:exon6:c.C390T:p.N130N,BCL2L13:NM_015367:exon7:c.C876T:p.N292N exonic ENSG00000099968 NA synonymous SNV ENSG00000099968:ENST00000538149:exon4:c.C504T:p.N168N,ENSG00000099968:ENST00000337612:exon5:c.C390T:p.N130N,ENSG00000099968:ENST00000543133:exon6:c.C390T:p.N130N,ENSG00000099968:ENST00000317582:exon7:c.C876T:p.N292N NA NA 22q11.21 NA NA NA NA rs2535688 0.07 0.07 0.054 0.0533147 0.1421 0.002 0.0994 0.0061 0.046 0.15 NA 0.1 0.01 0.1241 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788527 NA NA 0.169651 0.034271 NA 0.101 NA 5.2308156 1129 14 91233244 91233244 T C intronic TTC7B NA NA NA ncRNA_exonic ENSG00000213315 NA NA NA Score=717;Name=lod=1090 NA 14q32.11 NA NA NA NA rs61741695 0.19 0.19 0.178 0.200879 0.1044 0.1617 0.1138 0.3525 0.1973 0.11 0.17 0.13 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035944 NA NA NA NA NA 0.21 NA 5.2289333 1129 11 7439264 7439264 C T exonic SYT9 NA synonymous SNV SYT9:NM_175733:exon5:c.C1242T:p.T414T exonic ENSG00000170743 NA synonymous SNV ENSG00000170743:ENST00000318881:exon5:c.C1242T:p.T414T NA NA 11p15.4 NA NA NA NA rs34058874 0.17 0.17 0.159 0.171526 0.1491 0.2897 0.1254 0.1604 0.1207 0.14 0.28 0.12 0.14 0.1484 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604724 NA NA 0.14048 0.138801 ID=COSM147136;OCCURENCE=1(stomach) 0.116 NA 5.2286866 1129 13 45010867 45010867 C T UTR5 TSC22D1 NM_006022:c.-103G>A NA NA UTR5 ENSG00000102804 ENST00000261489:c.-103G>A NA NA NA NA 13q14.11 NA Name=Pol2(phosphoS2),Pol2,SP1,NRSF,GATA3_(SC-268),TAF1,p300,GTF2F1_(RAP-74),Rad21,RFX5_(N-494),Pol2-4H8,GATA-2,Sin3Ak-20,JunD,Pol2(b),HEY1 NA NA rs11552414 0.1 0.1 0.109 0.105032 0.1054 0.0139 0.0994 0.205 0.0675 0.11 0.0035 0.06 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448794 NA NA NA NA NA 0.167 NA 5.2279334 1129 6 134618497 134618497 C T intronic SGK1 NA NA NA ncRNA_exonic ENSG00000220378 NA NA NA Score=653;Name=lod=600 NA 6q23.2 NA NA NA NA rs4895399 0.19 0.19 0.147 0.169529 0.1054 0.3185 0.2334 0.1195 0.1043 0.12 0.34 0.2 0.12 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524222 NA NA NA NA NA 0.109 NA 5.2279333 1129 9 108286758 108286758 C T intronic FSD1L NA NA NA ncRNA_exonic ENSG00000229419 NA NA NA Score=735;Name=lod=1300 NA 9q31.2 NA NA NA NA rs3750499 0.21 0.21 0.155 0.208666 0.1054 0.4474 0.2133 0.1203 0.1851 0.11 0.42 0.18 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486377 NA NA NA NA NA 0.225 NA 5.2279333 1129 10 117228794 117228794 A G exonic ATRNL1 NA synonymous SNV ATRNL1:NM_207303:exon24:c.A3609G:p.T1203T exonic ENSG00000107518 NA synonymous SNV ENSG00000107518:ENST00000423111:exon8:c.A762G:p.T254T,ENSG00000107518:ENST00000355044:exon24:c.A3609G:p.T1203T Score=681;Name=lod=778 NA 10q25.3 NA NA NA NA rs10885721 0.36 0.36 0.332 0.344449 0.4911 0.1677 0.4654 0.2935 0.3589 0.46 0.17 0.49 0.3 0.4366 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015132 NA NA 0.51122 0.347064 NA 0.283 NA 5.2277466 1129 20 36231284 36231284 C T intergenic BLCAP,LINC00489 dist=74951;dist=16416 NA NA ncRNA_exonic ENSG00000228234 NA NA NA NA NA 20q11.23 NA Name=MafK_(SC-477),MafF_(M8194),JunD,c-Jun,MafK_(ab50322) Name=2 NA rs4810922 0.68 0.68 0.669 0.617812 0.7724 0.7232 0.7752 0.4244 0.5 0.77 0.75 0.74 0.4 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.990008 NA NA NA NA NA 0.652 NA 5.2276 1129 1 12907885 12907885 T C exonic HNRNPCL1,LOC649330 NA synonymous SNV LOC649330:NM_001146181:exon1:c.A258G:p.A86A,HNRNPCL1:NM_001013631:exon2:c.A258G:p.A86A exonic ENSG00000179172 NA synonymous SNV ENSG00000179172:ENST00000317869:exon2:c.A258G:p.A86A Score=665;Name=lod=673 NA 1p36.21 NA NA NA NA rs848418 NA NA 0.599 0.913938 0.9433 0.8125 0.9121 0.9614 0.9254 NA NA NA NA 0.4959 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294577 NA NA NA NA NA 0.13 NA 5.2274666 1129 14 23855569 23855569 A G exonic MYH6 NA synonymous SNV MYH6:NM_002471:exon33:c.T4914C:p.A1638A exonic ENSG00000197616 NA synonymous SNV ENSG00000197616:ENST00000356287:exon32:c.T4914C:p.A1638A,ENSG00000197616:ENST00000405093:exon33:c.T4914C:p.A1638A NA NA 14q11.2 NA NA NA NA rs178640 0.42 0.42 0.407 0.492812 0.4891 0.2569 0.3718 0.7579 0.4673 0.44 0.25 0.39 0.63 0.4649 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.641838 NA NA 0.485465 0.685429 NA 0.413 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037521.1;CLNDSDB=.;CLNDSDBID=. 5.2272016 1129 6 117730819 117730819 G A intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA Name=QT interval (interaction) 6q22.1 NA NA Name=2 NA rs2273601 0.3 0.3 0.301 0.360224 0.2565 0.2738 0.1888 0.5076 0.4785 0.25 0.28 0.19 0.46 0.2795 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236306 NA NA 0.23686 0.47231 NA 0.377 NA 5.22714 1129 17 39296254 39296254 C T exonic KRTAP4-6 NA synonymous SNV KRTAP4-6:NM_030976:exon1:c.G486A:p.P162P exonic ENSG00000198090 NA synonymous SNV ENSG00000198090:ENST00000345847:exon1:c.G486A:p.P162P NA NA 17q21.2 NA NA NA NA rs72483263 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA 0.4397 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072282 NA NA NA NA NA NA NA 5.2269666 1129 4 17913879 17913879 A G intronic LCORL NA NA NA ncRNA_exonic ENSG00000235413 NA NA NA Score=627;Name=lod=473 NA 4p15.31 NA NA NA NA rs35921582 0.11 0.11 0.096 0.152756 0.1064 0.1627 0.1311 0.093 0.2863 0.11 0.12 0.13 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170846 NA NA NA NA NA 0.123 NA 5.2269333 1129 8 10469340 10469340 G A exonic RP1L1 NA synonymous SNV RP1L1:NM_178857:exon4:c.C2268T:p.N756N exonic ENSG00000183638 NA synonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C2268T:p.N756N NA NA 8p23.1 NA NA NA NA rs57819090 0.15 0.15 0.148 0.186701 0.1352 0.2133 0.1643 0.0756 0.3783 0.15 0.21 0.18 0.09 0.1703 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060963 NA NA 0.134504 0.081694 NA 0.174 NA 5.2266626 1129 1 146502615 146502615 T G ncRNA_intronic LOC728989 NA NA NA ncRNA_exonic ENSG00000227242 NA NA NA Score=470;Name=lod=108 NA 1q21.1 NA NA NA NA rs4950332 0.33 0.33 0.354 0.317692 0.4404 0.1667 0.2709 0.413 0.2515 0.45 0.15 0.32 0.39 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624588 NA NA NA NA NA 0.457 NA 5.2262666 1129 19 58963047 58963047 G T UTR5 ZNF324B NM_207395:c.-2022G>T NA NA UTR5 ENSG00000249471 ENST00000336614:c.-2022G>T,ENST00000545523:c.-2022G>T,ENST00000599194:c.-2022G>T,ENST00000599193:c.-2022G>T,ENST00000598244:c.-2022G>T,ENST00000391696:c.-3295G>T,ENST00000594214:c.-2022G>T NA NA NA NA 19q13.43 NA Name=Pol2-4H8,c-Fos,HA-E2F1,Sin3Ak-20,Pbx3,IRF1,TBP,HEY1,ZBTB7A_(SC-34508),CCNT2,c-Myc,E2F6,Pol2,SP1,GABP,POU2F2,TAF1,ETS1,CHD2_(N-1250),Oct-2,ELF1_(SC-631) NA NA rs116959667 0.03 0.03 0.027 0.0205671 0.0586 0.001 0.0418 0.0023 0.0112 0.05 0.01 0.06 0.002 0.0486 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.400617 1.400617 NA NA NA NA NA NA 5.2261334 1129 2 136268560 136268560 G A intronic ZRANB3 NA NA NA ncRNA_exonic ENSG00000235651 NA NA NA Score=412;Name=lod=63 NA 2q21.3 NA NA NA NA rs16831774 0.17 0.17 0.173 0.228634 0.1074 0.1687 0.232 0.2685 0.3589 0.11 0.14 0.2 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464346 NA NA NA NA NA 0.188 NA 5.2259333 1129 7 96651406 96651406 A G intronic DLX5 NA NA NA UTR3 ENSG00000105880 ENST00000486603:c.*55T>C NA NA NA NA 7q21.3 NA Name=SUZ12 Name=10 NA rs1207733 0.97 0.97 0.972 0.977835 0.9414 0.9911 0.9798 0.9977 0.9734 0.94 0.99 0.98 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.955058 NA NA NA NA NA 1 NA 5.2252667 1129 22 51016098 51016098 A G ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA Name=5 NA rs5770916 0.25 0.25 0.226 0.282947 0.1083 0.4613 0.2709 0.1974 0.4029 0.12 0.47 0.22 0.21 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.419619 NA NA NA NA NA 0.239 NA 5.2250333 1130 20 44417675 44417675 G C exonic WFDC3 NA nonsynonymous SNV WFDC3:NM_080614:exon3:c.C106G:p.H36D exonic ENSG00000124116 NA nonsynonymous SNV ENSG00000124116:ENST00000372632:exon2:c.C106G:p.H36D,ENSG00000124116:ENST00000243938:exon3:c.C106G:p.H36D NA NA 20q13.12 NA NA NA NA rs6032538 0.68 0.68 0.673 0.654553 0.7058 0.6458 0.7896 0.6384 0.5368 0.73 0.62 0.76 0.6 0.6887 0.76 0.75 T 0.0 B 0.0 B 0.085 N 1.000 P -2.225 N -0.45 T -0.967 T 0.000 T 0.236 -1.785 0.01 1.13 0.141 -0.141 3.502 -1.785426 NA 1 0.713837 0.664775 NA 0.754 NA 5.2249964 1130 20 50255849 50255849 A C intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA Name=CTCF,SMC3_(ab9263),c-Myc,CTCF_(SC-5916) Name=143 NA rs6063682 0.17 0.17 0.155 0.169728 0.2584 0.004 0.1844 0.2186 0.1728 0.25 0.0035 0.2 0.22 0.2403 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460884 NA NA 0.276512 0.246028 NA 0.109 NA 5.224788 1130 11 117869670 117869670 A G exonic IL10RA NA nonsynonymous SNV IL10RA:NM_001558:exon7:c.A1051G:p.R351G exonic ENSG00000110324 NA nonsynonymous SNV ENSG00000110324:ENST00000545409:exon6:c.A604G:p.R202G,ENSG00000110324:ENST00000227752:exon7:c.A1051G:p.R351G,ENSG00000110324:ENST00000541785:exon8:c.A991G:p.R331G NA NA 11q23.3 NA NA NA NA rs2229113 0.81 0.81 0.814 0.811102 0.6829 0.9931 0.8141 0.8177 0.7444 0.68 0.99 0.78 0.83 0.7381 0.99 0.71 T 0.0 B 0.0 B 0.077 N 1.000 P -1.32 N 1.77 T -1.002 T 0.000 T 0.162 0.616 7.318 1.13 0.073 0.038 5.621 0.616388 NA 0.63 0.687616 0.808182 NA 0.797 NA 5.2247174 1130 3 179137273 179137273 A G exonic GNB4 NA synonymous SNV GNB4:NM_021629:exon4:c.T117C:p.S39S exonic ENSG00000114450 NA synonymous SNV ENSG00000114450:ENST00000232564:exon4:c.T117C:p.S39S,ENSG00000114450:ENST00000468623:exon4:c.T117C:p.S39S,ENSG00000114450:ENST00000497513:exon5:c.T117C:p.S39S NA NA 3q26.33 Score=883;Name=V$YY1_01 NA NA NA rs1362650 0.46 0.46 0.463 0.473043 0.5 0.4365 0.5058 0.4455 0.4969 0.49 0.46 0.48 0.41 0.4731 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276688 NA NA 0.469302 0.458693 NA 0.362 NA 5.2242646 1130 2 159913358 159913358 T C intronic TANC1 NA NA NA ncRNA_exonic ENSG00000226878 NA NA NA Score=592;Name=lod=340 NA 2q24.2 NA NA NA NA rs78909034 0.08 0.08 0.084 0.0782748 0.1093 0.0575 0.0634 0.0802 0.0757 0.09 0.05 0.07 0.08 NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.024351 2.024351 NA NA NA NA 0.08 NA 5.2240333 1130 17 560221 560221 G A intronic VPS53 NA NA NA ncRNA_exonic ENSG00000244097 NA NA NA Score=803;Name=lod=2456 NA 17p13.3 NA NA NA NA rs58445115 0.13 0.13 0.136 0.0936502 0.1093 0.1835 0.0821 0.0575 0.0419 0.11 0.23 0.12 0.08 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074486 NA NA NA NA NA 0.08 NA 5.2240333 1130 22 45748339 45748339 A G exonic SMC1B NA synonymous SNV SMC1B:NM_148674:exon22:c.T3417C:p.A1139A exonic ENSG00000077935 NA synonymous SNV ENSG00000077935:ENST00000357450:exon22:c.T3417C:p.A1139A Score=493;Name=lod=135 NA 22q13.31 NA NA NA NA rs5765275 0.35 0.35 0.326 0.289736 0.494 0.2946 0.4683 0.0499 0.272 0.51 0.33 0.43 0.07 0.4313 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.238852 1.238852 NA 0.518 0.114136 NA 0.196 NA 5.2233666 1130 15 58838038 58838038 C G exonic LIPC NA synonymous SNV LIPC:NM_000236:exon5:c.C672G:p.T224T exonic ENSG00000166035 NA synonymous SNV ENSG00000166035:ENST00000433326:exon4:c.C489G:p.T163T,ENSG00000166035:ENST00000299022:exon5:c.C672G:p.T224T,ENSG00000166035:ENST00000414170:exon6:c.C672G:p.T224T,ENSG00000166035:ENST00000356113:exon7:c.C672G:p.T224T NA NA 15q21.3 Score=792;Name=V$HEN1_01 NA NA NA rs6084 0.33 0.33 0.299 0.303514 0.5 0.0774 0.4467 0.2156 0.3517 0.52 0.06 0.46 0.25 0.4289 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801099 NA NA 0.514678 0.24521 NA 0.457 NA 5.2230886 1130 15 42010625 42010625 G A intronic MGA NA NA NA ncRNA_exonic ENSG00000270702 NA NA NA Score=663;Name=lod=658 NA 15q15.1 NA NA NA NA rs150379976 0.06 0.06 0.04 0.0652955 0.1103 0.0179 0.1066 0.0045 0.1207 0.1 0.01 0.11 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7654 NA NA NA NA NA 0.094 NA 5.2230333 1130 9 33001449 33001449 C A UTR5 APTX NM_001195249:c.-11560G>T NA NA UTR5 ENSG00000137074 ENST00000494649:c.-11560G>T,ENST00000463596:c.-11560G>T NA NA NA NA 9p21.1 NA Name=TBP,NFKB,YY1,Pol2-4H8,c-Fos,ZNF263,Pol2(b),ELK4,GTF2F1_(RAP-74),Pol2,YY1_(C-20),GATA-1,TAF1,WHIP Name=6 NA rs1197774 0.59 0.59 0.618 0.593251 0.5109 0.5615 0.4769 0.8555 0.4387 0.5 0.55 0.49 0.85 0.5995 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007595 NA NA NA NA NA 0.63 NA 5.2229334 1130 2 203096545 203096545 C A intronic SUMO1 NA NA NA ncRNA_exonic ENSG00000224463 NA NA NA Score=620;Name=lod=442 NA 2q33.1 NA NA NA NA rs116081766 0.05 0.05 0.053 0.0395367 0.1113 NA 0.0605 0.0068 0.0358 0.11 NA 0.08 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351705 NA NA NA NA NA 0.043 NA 5.2220333 1130 1 236647550 236647550 C G UTR3 EDARADD NM_145861:c.*1601C>G,NM_080738:c.*1601C>G NA NA ncRNA_exonic ENSG00000244457 NA NA NA Score=795;Name=lod=2274 NA 1q43 NA NA NA NA rs3916983 0.21 0.21 0.197 0.203275 0.2783 0.0942 0.2781 0.1309 0.2832 0.3 0.1 0.28 0.15 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.333296 NA NA NA NA NA 0.217 NA 5.2217 1130 3 130546582 130546582 T C intergenic PIK3R4,ATP2C1 dist=80886;dist=22787 NA NA ncRNA_exonic ENSG00000232829 NA NA NA Score=473;Name=lod=112 NA 3q22.1 NA NA Name=2 NA rs10934962 0.85 0.85 0.828 0.84385 0.7783 0.9196 0.8156 0.885 0.7975 0.79 0.93 0.81 0.86 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438014 NA NA NA NA NA 0.717 NA 5.2217 1130 22 19471609 19471609 A G intronic CDC45 NA NA NA intronic ENSG00000093009 NA NA NA NA NA 22q11.21 NA Name=PU.1,GATA-2 Name=3 NA rs737858 0.85 0.85 0.864 0.89377 0.7783 0.871 0.8703 0.9909 0.9213 0.78 0.85 0.82 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213482 NA NA NA NA NA 0.804 NA 5.2217 1130 7 48314279 48314279 G A exonic ABCA13 NA synonymous SNV ABCA13:NM_152701:exon17:c.G5016A:p.K1672K exonic ENSG00000179869 NA synonymous SNV ENSG00000179869:ENST00000435803:exon17:c.G5016A:p.K1672K NA NA 7p12.3 NA NA NA NA rs6955212 0.18 0.18 0.161 0.193291 0.1322 0.2153 0.2709 0.1498 0.2372 0.13 0.23 0.25 0.17 0.1713 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.216935 NA NA 0.141709 0.153624 NA 0.159 NA 5.2214576 1130 17 71754741 71754741 G C ncRNA_intronic LINC00469 NA NA NA ncRNA_intronic ENSG00000177338 NA NA NA NA NA 17q25.1 NA NA Name=8 NA rs2683132 0.53 0.53 0.527 0.557508 0.4463 0.4067 0.5793 0.8026 0.4806 0.44 0.42 0.52 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011949 NA NA NA NA NA 0.638 NA 5.2203666 1130 22 18220831 18220831 A G exonic BID NA synonymous SNV BID:NM_001244570:exon3:c.T240C:p.N80N,BID:NM_001244572:exon3:c.T240C:p.N80N,BID:NM_001244569:exon4:c.T240C:p.N80N,BID:NM_197967:exon4:c.T240C:p.N80N,BID:NM_001196:exon5:c.T528C:p.N176N,BID:NM_001244567:exon5:c.T528C:p.N176N,BID:NM_197966:exon5:c.T666C:p.N222N exonic ENSG00000015475 NA synonymous SNV ENSG00000015475:ENST00000399765:exon3:c.T240C:p.N80N,ENSG00000015475:ENST00000399767:exon4:c.T240C:p.N80N,ENSG00000015475:ENST00000317361:exon5:c.T666C:p.N222N,ENSG00000015475:ENST00000399774:exon5:c.T528C:p.N176N,ENSG00000015475:ENST00000551952:exon5:c.T528C:p.N176N NA NA 22q11.21 NA NA NA NA rs11538 0.08 0.08 0.059 0.061901 0.1491 0.005 0.1052 0.0265 0.0481 0.16 0.01 0.11 0.02 0.1271 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949725 NA NA 0.170349 0.053563 NA 0.109 NA 5.2201176 1130 3 182853670 182853670 T C exonic LAMP3 NA nonsynonymous SNV LAMP3:NM_014398:exon5:c.A952G:p.I318V exonic ENSG00000078081 NA nonsynonymous SNV ENSG00000078081:ENST00000265598:exon5:c.A952G:p.I318V,ENSG00000078081:ENST00000466939:exon5:c.A880G:p.I294V NA NA 3q27.1 NA NA NA NA rs482912 0.53 0.53 0.493 0.496406 0.7247 0.4712 0.5029 0.2224 0.6534 0.71 0.5 0.52 0.27 0.6483 0.74 1 T 0.0 B 0.001 B 0.398 N 0.146 P -0.885 N 1.41 T -0.967 T 0.000 T 0.042 -1.116 0.129 -1.37 -0.082 -0.439 9.487 -1.116168 NA 1 0.740233 0.30118 NA 0.42 NA 5.2201004 1130 14 70352817 70352817 G A intronic SMOC1 NA NA NA ncRNA_exonic ENSG00000242071 NA NA NA Score=799;Name=lod=2366 NA 14q24.2 NA NA NA NA rs56101942 0.11 0.11 0.08 0.105431 0.1133 0.1885 0.1715 0.0091 0.0951 0.12 0.16 0.14 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.32624 1.32624 NA NA NA NA 0.152 NA 5.2200333 1130 7 142480002 142480002 C A exonic PRSS2 NA unknown UNKNOWN ncRNA_exonic ENSG00000250606 NA NA NA Score=456;Name=lod=95 NA 7q34 NA NA NA NA rs199512312 NA NA 0.586 NA NA NA NA NA NA NA NA NA NA 0.6135 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.709516 NA 1 NA NA NA 0.058 NA 5.2198333 1130 9 140777370 140777370 A C intronic CACNA1B NA NA NA ncRNA_exonic ENSG00000203987 NA NA NA NA NA 9q34.3 NA Name=SUZ12,NRSF Name=9 NA rs1110146 NA NA 0.648 NA NA NA NA NA NA NA NA NA NA 0.5581 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366271 NA NA 0.55549 0.716651 NA 0.659 NA 5.2197433 1130 7 138732457 138732457 G A exonic ZC3HAV1 NA synonymous SNV ZC3HAV1:NM_020119:exon13:c.C2592T:p.F864F exonic ENSG00000105939 NA synonymous SNV ENSG00000105939:ENST00000242351:exon13:c.C2592T:p.F864F,ENSG00000105939:ENST00000464606:exon13:c.C2958T:p.F986F NA NA 7q34 Score=787;Name=V$MEIS1AHOXA9_01 NA NA NA rs3735008 0.44 0.44 0.424 0.423722 0.493 0.3343 0.3501 0.475 0.4274 0.48 0.34 0.39 0.52 0.4534 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.101688 NA NA 0.501163 0.470268 NA 0.391 NA 5.2191036 1130 10 95720490 95720490 C T ncRNA_exonic PIPSL NA NA NA ncRNA_exonic ENSG00000180764 NA NA NA Score=648;Name=lod=572 NA 10q23.33 NA NA NA NA rs12570608 0.17 0.17 0.137 0.156949 0.2336 0.2282 0.1182 0.0113 0.229 0.24 0.24 0.15 0.02 0.2141 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.504395 1.504395 0.22 NA NA NA 0.109 NA 5.2189666 1130 13 98087096 98087096 T C intronic RAP2A NA NA NA intronic ENSG00000125249 NA NA NA NA NA 13q32.1 NA Name=TAF1,E2F6_(H-50),Pol2,E2F6,ZBTB7A_(SC-34508),NFKB,Ini1 Name=99 NA rs3803251 0.8 0.8 0.826 0.823482 0.7813 0.7202 0.7795 0.9312 0.8589 0.78 0.74 0.8 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.808016 1.808016 NA NA NA NA 0.645 NA 5.2187 1130 5 157166649 157166649 G A UTR3 THG1L NM_017872:c.*159G>A NA NA UTR3 ENSG00000113272 ENST00000231198:c.*159G>A,ENST00000523575:c.*416G>A NA NA NA NA 5q33.3 Score=746;Name=V$PAX4_04 NA NA NA rs11550594 0.06 0.06 0.051 0.058107 0.1153 NA 0.0692 0.0204 0.1022 0.12 NA 0.09 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.182865 NA NA NA NA NA 0.014 NA 5.2180334 1130 12 95494760 95494760 A C intronic FGD6 NA NA NA ncRNA_exonic ENSG00000257121 NA NA NA Score=567;Name=lod=269 NA 12q22 NA NA NA NA rs4762452 0.17 0.17 0.165 0.171326 0.1153 0.1538 0.1931 0.2307 0.1513 0.11 0.18 0.21 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471482 NA NA NA NA NA 0.138 NA 5.2180333 1130 2 206610502 206610502 T G exonic NRP2 NA synonymous SNV NRP2:NM_003872:exon10:c.T1674G:p.P558P,NRP2:NM_018534:exon10:c.T1674G:p.P558P,NRP2:NM_201266:exon10:c.T1674G:p.P558P,NRP2:NM_201267:exon10:c.T1674G:p.P558P,NRP2:NM_201279:exon10:c.T1674G:p.P558P exonic ENSG00000118257 NA synonymous SNV ENSG00000118257:ENST00000272849:exon10:c.T1674G:p.P558P,ENSG00000118257:ENST00000357118:exon10:c.T1674G:p.P558P,ENSG00000118257:ENST00000357785:exon10:c.T1674G:p.P558P,ENSG00000118257:ENST00000360409:exon10:c.T1674G:p.P558P,ENSG00000118257:ENST00000412873:exon10:c.T1674G:p.P558P,ENSG00000118257:ENST00000540178:exon10:c.T1674G:p.P558P,ENSG00000118257:ENST00000540841:exon10:c.T1674G:p.P558P NA NA 2q33.3 NA NA NA NA rs849563 0.24 0.24 0.239 0.25599 0.1223 0.4593 0.2176 0.205 0.2802 0.13 0.46 0.21 0.2 0.1861 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409258 1.409258 NA 0.141395 0.188833 NA 0.174 NA 5.2168716 1130 20 31386347 31386347 T C exonic DNMT3B NA synonymous SNV DNMT3B:NM_001207056:exon12:c.T1284C:p.C428C,DNMT3B:NM_001207055:exon13:c.T1386C:p.C462C,DNMT3B:NM_175848:exon14:c.T1512C:p.C504C,DNMT3B:NM_175849:exon14:c.T1512C:p.C504C,DNMT3B:NM_175850:exon14:c.T1548C:p.C516C,DNMT3B:NM_006892:exon15:c.T1572C:p.C524C exonic ENSG00000088305 NA synonymous SNV ENSG00000088305:ENST00000456297:exon12:c.T1284C:p.C428C,ENSG00000088305:ENST00000443239:exon13:c.T1386C:p.C462C,ENSG00000088305:ENST00000201963:exon14:c.T1548C:p.C516C,ENSG00000088305:ENST00000344505:exon14:c.T1512C:p.C504C,ENSG00000088305:ENST00000348286:exon14:c.T1512C:p.C504C,ENSG00000088305:ENST00000353855:exon14:c.T1512C:p.C504C,ENSG00000088305:ENST00000328111:exon15:c.T1572C:p.C524C Score=535;Name=lod=199 NA 20q11.21 NA NA NA NA rs6058891 0.71 0.71 0.7 0.755791 0.4205 0.9931 0.6599 0.913 0.7117 0.43 0.99 0.64 0.88 0.5806 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.77216 1.77216 NA 0.44907 0.832955 NA 0.616 NA 5.2164966 1130 1 203774793 203774793 C T intronic ZC3H11A NA NA NA ncRNA_exonic ENSG00000227417 NA NA NA Score=680;Name=lod=776 NA 1q32.1 NA NA NA NA rs7532505 0.17 0.17 0.145 0.183307 0.1173 0.2887 0.3199 0.0484 0.228 0.12 0.3 0.25 0.04 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.720359 1.720359 NA NA NA NA 0.181 NA 5.2160333 1130 20 57569860 57569860 C G UTR3 NELFCD NM_198976:c.*129C>G NA NA UTR3 ENSG00000101158 ENST00000602795:c.*129C>G,ENST00000344018:c.*129C>G,ENST00000460601:c.*129C>G NA NA NA NA 20q13.32 NA Name=Pol2-4H8 NA NA rs1043219 0.1 0.1 0.097 0.107029 0.1183 0.1389 0.17 0.0106 0.1483 0.12 0.12 0.15 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361073 NA NA NA NA NA 0.072 NA 5.2150334 1131 10 95720501 95720501 T C ncRNA_exonic PIPSL NA NA NA ncRNA_exonic ENSG00000180764 NA NA NA Score=648;Name=lod=572 NA 10q23.33 NA NA NA NA rs12571819 0.18 0.18 0.147 0.169329 0.2336 0.2292 0.1254 0.0537 0.229 0.24 0.24 0.16 0.05 0.2183 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210391 NA 0.31 NA NA NA 0.116 NA 5.2147666 1131 1 21571601 21571601 G A intronic ECE1 NA NA NA intronic ENSG00000117298 NA NA NA NA NA 1p36.12 NA Name=CTCFL_(SC-98982),ZBTB7A_(SC-34508),Rad21,CTCF Name=8 NA rs12562197 0.17 0.17 0.147 0.160144 0.2664 0.129 0.2781 0.028 0.1779 0.26 0.12 0.25 0.03 0.2405 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145988 NA NA 0.278721 0.069905 NA 0.13 NA 5.214379 1131 5 170626735 170626735 A G exonic RANBP17 NA synonymous SNV RANBP17:NM_022897:exon19:c.A2100G:p.V700V exonic ENSG00000204764 NA synonymous SNV ENSG00000204764:ENST00000523189:exon19:c.A2100G:p.V700V NA NA 5q35.1 NA NA NA NA rs35724654 0.08 0.08 0.06 0.0644968 0.173 0.001 0.0634 0.0098 0.093 0.18 NA 0.08 0.01 0.1173 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278792 NA NA 0.162558 0.032002 NA 0.051 NA 5.2138086 1131 3 18419859 18419859 G A intronic SATB1 NA NA NA intronic ENSG00000182568 NA NA NA Score=536;Name=lod=201 NA 3p24.3 NA Name=p300 Name=4 NA rs10460976 0.68 0.68 0.668 0.688299 0.5706 0.9216 0.7291 0.5802 0.6861 0.57 0.93 0.68 0.56 0.6373 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.96276 2.96276 NA 0.578953 0.585338 NA 0.638 NA 5.213147 1131 2 74534691 74534691 T C intronic SLC4A5 NA NA NA ncRNA_exonic ENSG00000229798 NA NA NA Score=346;Name=lod=34 NA 2p13.1 NA NA NA NA rs9789404 0.29 0.29 0.303 0.310903 0.1203 0.4425 0.1744 0.4902 0.226 0.12 0.47 0.18 0.45 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53863 NA NA NA NA NA 0.275 NA 5.2130333 1131 9 141071552 141071552 C T ncRNA_exonic TUBBP5 NA NA NA ncRNA_exonic ENSG00000159247 NA NA NA Score=845;Name=lod=3610 NA 9q34.3 NA NA NA NA rs11137403 0.32 0.32 0.24 0.324281 0.4543 0.3185 0.5389 0.0719 0.3855 0.43 0.27 0.45 0.08 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134216 NA 0 NA NA ID=COSM1497006;OCCURENCE=1(kidney) 0.304 NA 5.2123666 1131 11 5474838 5474838 G T exonic OR51I2 NA synonymous SNV OR51I2:NM_001004754:exon1:c.G120T:p.G40G exonic ENSG00000187918 NA synonymous SNV ENSG00000187918:ENST00000341449:exon1:c.G120T:p.G40G NA NA 11p15.4 Score=800;Name=V$GFI1_01 NA NA NA rs2030094 0.41 0.41 0.396 0.402157 0.5 0.2589 0.4539 0.4516 0.3456 0.52 0.27 0.45 0.37 0.4493 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959537 NA NA 0.506167 0.466379 ID=COSM1354368;OCCURENCE=1(large_intestine) 0.464 NA 5.2111996 1131 9 99580199 99580199 A G UTR3 ZNF782 NM_001001662:c.*6T>C NA NA UTR3 ENSG00000196597 ENST00000481138:c.*6T>C,ENST00000535338:c.*6T>C,ENST00000289032:c.*6T>C NA NA NA NA 9q22.33 NA Name=KAP1 NA NA rs73654606 0.18 0.18 0.226 0.185703 0.0258 0.2083 0.0562 0.4334 0.0838 0.03 0.25 0.06 0.44 0.0771 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210642 NA NA 0.019302 0.376022 ID=COSN168615;OCCURENCE=1(large_intestine) 0.152 NA 5.2111314 1131 1 117076399 117076399 T C intronic CD58 NA NA NA ncRNA_exonic ENSG00000177173 NA NA NA Score=590;Name=lod=333 NA 1p13.1 NA NA NA NA rs1034920 0.27 0.27 0.244 0.291534 0.1223 0.5575 0.2896 0.1679 0.3599 0.12 0.58 0.21 0.17 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061787 NA NA NA NA NA 0.239 NA 5.2110333 1131 1 117076403 117076403 G A intronic CD58 NA NA NA ncRNA_exonic ENSG00000177173 NA NA NA Score=590;Name=lod=333 NA 1p13.1 NA NA NA NA rs1034921 0.27 0.27 0.242 0.291134 0.1223 0.5556 0.2896 0.1679 0.3599 0.12 0.58 0.21 0.17 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147197 NA NA NA NA NA 0.239 NA 5.2110333 1131 1 117076461 117076461 T C intronic CD58 NA NA NA ncRNA_exonic ENSG00000177173 NA NA NA Score=590;Name=lod=333 NA 1p13.1 NA NA NA NA rs10802192 0.27 0.27 0.265 0.291534 0.1223 0.5575 0.2896 0.1679 0.3599 0.12 0.58 0.21 0.17 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574265 NA NA NA NA NA 0.239 NA 5.2110333 1131 1 117076547 117076547 G T intronic CD58 NA NA NA ncRNA_exonic ENSG00000177173 NA NA NA Score=590;Name=lod=333 NA 1p13.1 NA NA NA NA rs1016140 0.27 0.27 0.272 0.291534 0.1223 0.5575 0.2896 0.1679 0.3599 0.12 0.58 0.21 0.17 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.527494 NA NA NA NA NA 0.239 NA 5.2110333 1131 17 20015428 20015428 G A intronic SPECC1 NA NA NA ncRNA_exonic ENSG00000225014 NA NA NA Score=620;Name=lod=443 NA 17p11.2 NA NA NA NA rs9902683 0.1 0.1 0.092 0.111422 0.1223 0.0962 0.1427 0.0855 0.1288 0.13 0.09 0.12 0.08 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555338 NA NA NA NA NA 0.145 NA 5.2110333 1131 6 150239330 150239330 C T exonic RAET1G NA synonymous SNV RAET1G:NM_001001788:exon4:c.G822A:p.R274R exonic ENSG00000203722 NA synonymous SNV ENSG00000203722:ENST00000367360:exon4:c.G822A:p.R274R NA NA 6q25.1 NA NA NA NA rs17079029 0.23 0.23 0.215 0.227037 0.1511 0.5367 0.111 0.1021 0.2372 0.13 0.54 0.13 0.1 0.1732 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65778 NA NA 0.131512 0.110985 NA 0.268 NA 5.2108546 1131 9 38395928 38395928 C T exonic ALDH1B1 NA synonymous SNV ALDH1B1:NM_000692:exon2:c.C183T:p.T61T exonic ENSG00000137124 NA synonymous SNV ENSG00000137124:ENST00000377698:exon2:c.C183T:p.T61T NA NA 9p13.2 NA NA NA NA rs2073477 0.24 0.24 0.236 0.267772 0.1372 0.3899 0.2968 0.2292 0.3078 0.14 0.4 0.25 0.23 0.1919 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.569063 NA NA 0.126977 0.2399 ID=COSM1240833;OCCURENCE=1(oesophagus) 0.167 NA 5.2105896 1131 19 11708464 11708464 G C intronic ZNF627 NA NA NA intronic ENSG00000198551 NA NA NA NA NA 19p13.2 NA Name=HEY1,ZNF263,Pol2-4H8,Sin3Ak-20,Pol2(b),CHD2_(N-1250),Oct-2,ELF1_(SC-631),TAF7_(SQ-8),TCF4,Pol2(phosphoS2),Pol2,GABP,POU2F2,TAF1,ETS1 Name=148 NA rs72997090 0.22 0.22 0.212 0.209065 0.2634 0.1617 0.2968 0.152 0.2168 0.25 0.17 0.31 0.16 0.2577 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095735 NA NA 0.268527 0.162769 NA 0.254 NA 5.210373 1131 19 51917735 51917735 G A exonic SIGLEC10 NA synonymous SNV SIGLEC10:NM_001171161:exon7:c.C921T:p.N307N,SIGLEC10:NM_001171157:exon8:c.C1365T:p.N455N,SIGLEC10:NM_001171158:exon8:c.C1221T:p.N407N,SIGLEC10:NM_001171159:exon8:c.C1191T:p.N397N,SIGLEC10:NM_001171156:exon9:c.C1476T:p.N492N,SIGLEC10:NM_033130:exon9:c.C1650T:p.N550N exonic ENSG00000142512 NA synonymous SNV ENSG00000142512:ENST00000442846:exon7:c.C921T:p.N307N,ENSG00000142512:ENST00000525998:exon7:c.C1095T:p.N365N,ENSG00000142512:ENST00000353836:exon8:c.C1365T:p.N455N,ENSG00000142512:ENST00000436984:exon8:c.C1221T:p.N407N,ENSG00000142512:ENST00000441969:exon8:c.C1191T:p.N397N,ENSG00000142512:ENST00000339313:exon9:c.C1650T:p.N550N,ENSG00000142512:ENST00000356298:exon9:c.C1650T:p.N550N,ENSG00000142512:ENST00000432469:exon9:c.C1116T:p.N372N,ENSG00000142512:ENST00000439889:exon9:c.C1476T:p.N492N NA NA 19q13.41 NA NA NA NA rs1974821 0.2 0.2 0.21 0.228035 0.1451 0.2113 0.1816 0.3404 0.2117 0.14 0.19 0.16 0.32 0.1716 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078226 NA NA 0.140349 0.319337 ID=COSM148696,COSM148695;OCCURENCE=1(stomach) 0.203 NA 5.2096176 1131 21 46102015 46102015 C T exonic KRTAP12-1 NA synonymous SNV KRTAP12-1:NM_181686:exon1:c.G24A:p.S8S exonic ENSG00000187175 NA synonymous SNV ENSG00000187175:ENST00000391617:exon1:c.G24A:p.S8S NA NA 21q22.3 NA NA NA NA rs7283084 0.13 0.13 0.113 0.146765 0.1461 0.0813 0.121 0.1838 0.183 0.15 0.08 0.12 0.17 0.1533 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.088111 NA NA 0.157709 0.160185 NA 0.08 NA 5.2095576 1131 4 186097045 186097045 C T exonic KIAA1430 NA synonymous SNV KIAA1430:NM_020827:exon3:c.G1215A:p.P405P exonic ENSG00000164323 NA synonymous SNV ENSG00000164323:ENST00000296775:exon3:c.G1215A:p.P405P,ENSG00000164323:ENST00000458385:exon3:c.G1215A:p.P405P,ENSG00000164323:ENST00000514798:exon3:c.G1215A:p.P405P Score=614;Name=lod=416 NA 4q35.1 NA NA NA NA rs6855305 0.5 0.5 0.471 0.505591 0.505 0.3998 0.464 0.6573 0.4397 0.52 0.36 0.51 0.63 0.4846 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906124 NA NA 0.467663 0.611624 NA 0.428 NA 5.2094036 1131 7 47436497 47436497 G A exonic TNS3 NA synonymous SNV TNS3:NM_022748:exon16:c.C924T:p.S308S exonic ENSG00000136205 NA synonymous SNV ENSG00000136205:ENST00000311160:exon16:c.C924T:p.S308S,ENSG00000136205:ENST00000398879:exon16:c.C924T:p.S308S,ENSG00000136205:ENST00000450444:exon16:c.C1191T:p.S397S,ENSG00000136205:ENST00000457718:exon16:c.C1233T:p.S411S NA NA 7p12.3 NA NA NA NA rs17544028 0.11 0.11 0.09 0.110823 0.159 0.0764 0.1513 0.034 0.1718 0.16 0.08 0.16 0.02 0.1438 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521313 NA NA 0.155371 0.046335 NA 0.036 NA 5.2084956 1131 10 47087474 47087474 C T exonic NPY4R NA synonymous SNV NPY4R:NM_005972:exon3:c.C691T:p.L231L exonic ENSG00000204174 NA synonymous SNV ENSG00000204174:ENST00000395716:exon2:c.C691T:p.L231L,ENSG00000204174:ENST00000374312:exon3:c.C691T:p.L231L Score=500;Name=lod=143 NA 10q11.22 NA NA NA NA rs1129838 0.83 0.83 0.839 NA NA NA NA NA NA 0.72 0.99 0.82 0.81 0.7542 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287305 NA NA 0.70407 0.779619 NA 0.754 NA 5.2083966 1131 16 56691893 56691893 G T UTR5 MT1F NM_005949:c.-78G>T NA NA UTR5 ENSG00000198417 ENST00000334350:c.-78G>T,ENST00000394501:c.-78G>T NA NA NA NA 16q12.2 NA Name=Pol2,TAF1 NA NA rs186322428 0.07 0.07 NA 0.0678914 0.1252 0.0129 0.0908 0.0197 0.1145 0.13 0.0035 0.09 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358152 NA NA NA NA NA 0.072 NA 5.2081334 1131 22 43830996 43830996 C T exonic MPPED1 NA synonymous SNV MPPED1:NM_001044370:exon3:c.C267T:p.Y89Y exonic ENSG00000186732 NA synonymous SNV ENSG00000186732:ENST00000334209:exon3:c.C267T:p.Y89Y,ENSG00000186732:ENST00000417669:exon3:c.C267T:p.Y89Y,ENSG00000186732:ENST00000443721:exon3:c.C267T:p.Y89Y,ENSG00000186732:ENST00000538182:exon3:c.C366T:p.Y122Y,ENSG00000186732:ENST00000542779:exon3:c.C267T:p.Y89Y Score=543;Name=lod=214 NA 22q13.2 NA NA NA NA rs2413761 0.37 0.37 0.396 0.354633 0.4861 0.0873 0.3919 0.4206 0.3793 0.48 0.1 0.43 0.47 0.4491 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.104196 NA NA 0.523338 0.405525 NA 0.428 NA 5.2081286 1131 3 127379270 127379270 C T exonic PODXL2 NA synonymous SNV PODXL2:NM_015720:exon3:c.C399T:p.T133T exonic ENSG00000114631 NA synonymous SNV ENSG00000114631:ENST00000342480:exon3:c.C399T:p.T133T NA NA 3q21.3 NA NA NA NA rs920232 0.16 0.16 0.162 0.16893 0.1392 0.1766 0.1744 0.1755 0.1789 0.14 0.17 0.17 0.17 0.1589 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483781 NA NA 0.16093 0.156605 NA 0.116 NA 5.2076366 1131 3 183904232 183904232 T A intronic ABCF3 NA NA NA intronic ENSG00000145191,ENSG00000161204 NA NA NA NA NA 3q27.1 NA Name=NRSF,Sin3Ak-20,STAT1 Name=47 NA rs1709624 0.89 0.89 0.887 0.910743 0.7932 0.9692 0.8761 0.9947 0.8824 0.79 0.97 0.86 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489253 NA NA NA NA NA 0.855 NA 5.2068 1131 9 131588813 131588813 C G intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA Name=MafK_(ab50322),CTCF Name=13 NA rs6478853 0.32 0.32 0.326 0.382987 0.2535 0.2669 0.2118 0.643 0.4059 0.21 0.25 0.22 0.61 0.2892 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376716 1.376716 NA 0.250698 0.576941 NA 0.348 NA 5.206602 1131 11 102678438 102678438 C T ncRNA_intronic WTAPP1 NA NA NA ncRNA_exonic ENSG00000256035 NA NA NA Score=753;Name=lod=1535 NA 11q22.2 NA NA NA NA rs526215 0.26 0.26 0.253 0.202875 0.4602 0.127 0.2968 0.0454 0.1626 0.45 0.15 0.34 0.04 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019885 NA NA NA NA NA 0.304 NA 5.2064666 1131 4 113460927 113460927 C A intronic C4orf21 NA NA NA ncRNA_intronic ENSG00000249509 NA NA NA NA NA 4q25 NA NA Name=5 NA rs2306775 0.21 0.21 0.183 0.22524 0.1272 0.3929 0.2147 0.1566 0.2536 0.11 0.39 0.22 0.18 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122383 NA NA NA NA NA 0.101 NA 5.2061333 1131 4 48582909 48582909 G A exonic FRYL NA synonymous SNV FRYL:NM_015030:exon22:c.C2232T:p.S744S exonic ENSG00000075539 NA synonymous SNV ENSG00000075539:ENST00000506685:exon12:c.C1350T:p.S450S,ENSG00000075539:ENST00000503238:exon19:c.C2232T:p.S744S,ENSG00000075539:ENST00000358350:exon22:c.C2232T:p.S744S,ENSG00000075539:ENST00000507711:exon22:c.C2232T:p.S744S,ENSG00000075539:ENST00000537810:exon22:c.C2232T:p.S744S Score=634;Name=lod=503 NA 4p11 NA NA NA NA rs4695391 0.45 0.45 0.414 0.38738 0.5189 0.4464 0.5749 0.171 0.3507 0.52 0.5 0.6 0.19 0.4655 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.118426 NA NA 0.476387 0.203871 NA 0.319 NA 5.2058796 1131 2 8822266 8822266 C T UTR5 ID2 NM_002166:c.-30C>T NA NA UTR5 ENSG00000115738 ENST00000234091:c.-30C>T,ENST00000396290:c.-30C>T,ENST00000331129:c.-30C>T NA NA NA NA 2p25.1 NA Name=POU2F2,HMGN3,TAL1_(SC-12984),JunD,FOSL2,TAF1,Pol2(b),E2F6_(H-50),ETS1,Sin3Ak-20,YY1_(C-20),BCLAF1_(M33-P5B11),TAF7_(SQ-8),ZNF263,MEF2A,HDAC2_(SC-6296),Pol2-4H8,NELFe,Pol2,NRSF,RFX5_(N-494),TCF4,Pol2(phosphoS2),SMC3_(ab9263),PAX5-N19,PAX5-C20,Oct-2,c-Myc,CCNT2,Rad21,NFKB,ZEB1_(SC-25388),HEY1,BCL3,TBP,GTF2F1_(RAP-74),CTCF,p300,THAP1_(SC-98174),EBF1_(C-8),USF-1,GTF2B NA NA rs56393729 0.02 0.02 0.022 0.014976 0.0398 NA 0.0202 0.0008 0.0204 0.04 NA 0.02 0.002 0.0384 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.835929 1.835929 NA 0.04943 0.01 NA 0.022 NA 5.2057034 1131 15 90623052 90623052 T C exonic ZNF710 NA synonymous SNV ZNF710:NM_198526:exon5:c.T1986C:p.N662N exonic ENSG00000140548 NA synonymous SNV ENSG00000140548:ENST00000268154:exon5:c.T1986C:p.N662N Score=521;Name=lod=174 NA 15q26.1 NA NA NA NA rs2970357 0.62 0.62 0.608 0.672324 0.4751 0.8244 0.5778 0.7284 0.7096 0.45 0.81 0.57 0.68 0.541 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360086 NA NA 0.444974 0.724318 NA 0.558 NA 5.2055926 1131 3 124369650 124369650 T C intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA Score=459;Name=lod=98 NA 3q21.2 NA Name=BCL3 NA NA rs2291988 0.28 0.28 0.26 0.261182 0.2763 0.4345 0.2608 0.1649 0.1973 0.27 0.42 0.27 0.14 0.2591 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459843 NA NA 0.25907 0.149569 NA 0.196 NA 5.20553 1131 19 46341824 46341824 C T exonic SYMPK NA synonymous SNV SYMPK:NM_004819:exon10:c.G1137A:p.P379P exonic ENSG00000125755 NA synonymous SNV ENSG00000125755:ENST00000600237:exon9:c.G1137A:p.P379P,ENSG00000125755:ENST00000245934:exon10:c.G1137A:p.P379P NA NA 19q13.32 NA NA NA NA rs17850110 0.14 0.14 0.127 0.144968 0.1571 0.0952 0.2334 0.1074 0.1718 0.16 0.09 0.2 0.12 0.1567 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312078 NA NA 0.147791 0.108034 NA 0.072 NA 5.2050756 1132 5 176798306 176798306 G A intronic RGS14 NA NA NA intronic ENSG00000169220 NA NA NA NA Name=Nephrolithiasis 5q35.3 NA Name=Pol2,HEY1 NA NA rs11746443 0.19 0.19 0.164 0.177316 0.2823 0.1429 0.2262 0.0499 0.2423 0.28 0.17 0.25 0.06 0.2436 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.310568 1.310568 NA 0.269286 0.072569 NA 0.188 NA 5.204814 1132 8 23177619 23177619 C A intronic LOXL2 NA NA NA intronic ENSG00000134013 NA NA NA NA NA 8p21.3 NA Name=CTCF,Rad21,CTCF_(C-20),CTCF_(SC-5916) Name=23 NA rs13254579 0.73 0.73 0.726 0.698083 0.7952 0.7222 0.6974 0.6233 0.6748 0.79 0.72 0.74 0.63 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068443 NA NA NA NA NA 0.725 NA 5.2048 1132 19 1119019 1119019 C T exonic SBNO2 NA synonymous SNV SBNO2:NM_001100122:exon11:c.G1347A:p.A449A,SBNO2:NM_014963:exon14:c.G1518A:p.A506A exonic ENSG00000064932 NA synonymous SNV ENSG00000064932:ENST00000438103:exon11:c.G1347A:p.A449A,ENSG00000064932:ENST00000361757:exon14:c.G1518A:p.A506A,ENSG00000064932:ENST00000587024:exon14:c.G1518A:p.A506A Score=471;Name=lod=109 NA 19p13.3 NA NA NA NA rs2074920 0.48 0.48 0.492 0.489018 0.4642 0.2371 0.6138 0.6793 0.4284 0.46 0.26 0.57 0.72 0.5329 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616352 NA NA 0.464902 0.679338 NA 0.391 NA 5.2046646 1132 6 32362669 32362669 T G exonic BTNL2 NA synonymous SNV BTNL2:NM_019602:exon6:c.A1212C:p.S404S exonic ENSG00000204290 NA synonymous SNV ENSG00000204290:ENST00000414363:exon4:c.A582C:p.S194S,ENSG00000204290:ENST00000540315:exon4:c.A582C:p.S194S,ENSG00000204290:ENST00000544175:exon5:c.A381C:p.S127S,ENSG00000204290:ENST00000374993:exon6:c.A1212C:p.S404S,ENSG00000204290:ENST00000374995:exon6:c.A930C:p.S310S,ENSG00000204290:ENST00000454136:exon6:c.A1212C:p.S404S NA NA 6p21.32 NA NA NA NA rs41449245 0.16 0.16 0.151 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 0.155 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334357 NA NA 0.144302 0.125057 NA 0.188 NA 5.2043646 1132 11 114454147 114454147 A G intronic NXPE4 NA NA NA ncRNA_exonic ENSG00000256674 NA NA NA Score=770;Name=lod=1791 NA 11q23.2 NA NA NA NA rs2292817 0.09 0.09 0.112 0.0876597 0.1292 0.0903 0.0821 0.0242 0.1319 0.13 0.11 0.09 0.03 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.577123 2.577123 NA NA NA NA 0.036 NA 5.2041333 1132 1 248224754 248224754 T C exonic OR2L3 NA synonymous SNV OR2L3:NM_001004687:exon1:c.T771C:p.T257T exonic ENSG00000198128 NA synonymous SNV ENSG00000198128:ENST00000359959:exon1:c.T771C:p.T257T NA NA 1q44 NA NA NA NA rs55893924 0.31 0.31 0.27 0.310503 0.1481 0.254 0.1326 0.7398 0.0818 0.15 0.3 0.14 0.69 0.1814 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.651075 NA NA 0.133232 0.614163 NA 0.174 NA 5.2039346 1132 17 4684095 4684095 G A exonic TM4SF5 NA synonymous SNV TM4SF5:NM_003963:exon2:c.G189A:p.P63P exonic ENSG00000142484 NA synonymous SNV ENSG00000142484:ENST00000270560:exon2:c.G189A:p.P63P NA NA 17p13.2 Score=765;Name=V$TCF11MAFG_01 NA NA NA rs13520 0.35 0.35 0.343 0.326677 0.5089 0.1865 0.4337 0.1717 0.4172 0.49 0.19 0.48 0.21 0.4372 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.421527 NA NA 0.51686 0.24217 NA 0.319 NA 5.2037066 1132 5 149826572 149826572 G A intronic RPS14 NA NA NA intronic ENSG00000164587 NA NA NA NA NA 5q33.1 NA Name=HEY1,Pol2(phosphoS2),Pol2-4H8 Name=4 NA rs13183077 0.24 0.24 0.231 0.268371 0.2575 0.2669 0.2161 0.2027 0.407 0.26 0.28 0.23 0.2 0.2726 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481122 NA NA 0.266279 0.214934 ID=COSN167613;OCCURENCE=1(large_intestine) 0.341 NA 5.203621 1132 1 248224595 248224595 C T exonic OR2L3 NA synonymous SNV OR2L3:NM_001004687:exon1:c.C612T:p.I204I exonic ENSG00000198128 NA synonymous SNV ENSG00000198128:ENST00000359959:exon1:c.C612T:p.I204I NA NA 1q44 NA NA NA NA rs71535242 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4631 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388448 NA NA NA NA NA 0.014 NA 5.2035666 1132 22 46654323 46654323 G A exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.C4897T:p.L1633L exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.C4897T:p.L1633L NA NA 22q13.31 NA NA NA NA rs6007740 0.22 0.22 0.243 0.240615 0.16 0.001 0.1297 0.6626 0.0787 0.15 NA 0.15 0.62 0.1576 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90049 NA NA 0.145698 0.585792 NA 0.297 NA 5.2033686 1132 22 46657798 46657798 A G exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.T1422C:p.D474D exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.T1422C:p.D474D NA NA 22q13.31 NA NA NA NA rs6007748 0.22 0.22 0.238 0.239217 0.16 0.001 0.1326 0.6558 0.0787 0.15 NA 0.15 0.62 0.1575 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078486 NA NA 0.14593 0.576033 NA 0.297 NA 5.2032366 1132 22 46656805 46656805 G A exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.C2415T:p.I805I exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.C2415T:p.I805I NA NA 22q13.31 NA NA NA NA rs6519994 0.21 0.21 0.243 0.23762 0.161 0.001 0.1297 0.6505 0.0787 0.15 NA 0.14 0.61 0.1567 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68463 NA NA 0.145814 0.570845 ID=COSM1416853;OCCURENCE=1(large_intestine) 0.297 NA 5.2031526 1132 2 203789679 203789679 C T intronic ALS2CR8 NA NA NA ncRNA_exonic ENSG00000232479 NA NA NA Score=728;Name=lod=1213 NA 2q33.2 NA NA NA NA rs72936870 0.07 0.07 0.07 0.0471246 0.1302 0.0159 0.0749 0.0174 0.0143 0.14 0.02 0.09 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370897 NA NA NA NA NA 0.036 NA 5.2031333 1132 11 49598178 49598178 G A ncRNA_exonic LOC440040 NA NA NA ncRNA_exonic ENSG00000205035 NA NA NA Score=680;Name=lod=776 NA 11p11.12 NA Name=MafK_(ab50322) NA NA rs7101761 0.71 0.71 0.698 0.721446 0.7276 0.7143 0.7925 0.6293 0.7965 0.72 0.71 0.78 0.63 0.7361 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.732839 NA NA NA NA NA 0.667 NA 5.2029666 1132 7 134891961 134891961 G A intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA Name=Pol2,TBP Name=18 NA rs2278130 0.23 0.23 0.216 0.229034 0.2863 0.1776 0.1427 0.3071 0.1789 0.28 0.17 0.16 0.28 0.239 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969312 NA NA 0.271744 0.291875 NA 0.203 NA 5.202956 1132 22 46652737 46652737 G A exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.C6483T:p.C2161C exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.C6483T:p.C2161C NA NA 22q13.31 NA NA NA NA rs6008362 0.21 0.21 0.254 0.240016 0.16 0.001 0.1297 0.6604 0.0787 0.15 NA 0.15 0.61 0.1578 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37292 NA NA 0.146047 0.583069 NA 0.29 NA 5.2028196 1132 1 179347832 179347832 T C exonic AXDND1 NA synonymous SNV AXDND1:NM_144696:exon5:c.T435C:p.V145V exonic ENSG00000162779 NA synonymous SNV ENSG00000162779:ENST00000434088:exon3:c.T237C:p.V79V,ENSG00000162779:ENST00000509175:exon4:c.T309C:p.V103V,ENSG00000162779:ENST00000511889:exon4:c.T309C:p.V103V,ENSG00000162779:ENST00000367618:exon5:c.T435C:p.V145V,ENSG00000162779:ENST00000457238:exon5:c.T435C:p.V145V,ENSG00000162779:ENST00000511157:exon5:c.T435C:p.V145V NA NA 1q25.2 Score=827;Name=V$HNF4_01_B NA NA NA rs10798674 0.51 0.51 0.502 0.511781 0.5159 0.6974 0.5274 0.2799 0.6186 0.49 0.72 0.49 0.31 0.4845 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867829 NA NA 0.46407 0.320699 NA 0.442 NA 5.2021966 1132 9 79325759 79325759 C T exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.G1431A:p.V477V exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.G1431A:p.V477V,ENSG00000106772:ENST00000428286:exon8:c.G354A:p.V118V NA NA 9q21.2 NA NA NA NA rs11145019 0.26 0.26 0.243 0.23762 0.1551 0.4653 0.1599 0.2103 0.18 0.15 0.5 0.14 0.22 0.1863 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.050815 NA NA 0.123116 0.199936 NA 0.167 NA 5.2021506 1132 7 146864656 146864656 C T intronic CNTNAP2 NA NA NA ncRNA_exonic ENSG00000232391 NA NA NA Score=630;Name=lod=483 NA 7q35 NA NA NA NA rs13309902 0.07 0.07 0.062 0.0794728 0.1312 NA 0.0793 0.0643 0.1288 0.13 NA 0.09 0.05 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.369894 2.369894 NA NA NA NA 0.087 NA 5.2021333 1132 22 46652929 46652929 G A exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.C6291T:p.S2097S exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.C6291T:p.S2097S NA NA 22q13.31 NA NA NA NA rs6008365 0.21 0.21 0.239 0.242212 0.16 0.002 0.1297 0.6604 0.089 0.15 NA 0.15 0.61 0.1584 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.467341 NA NA 0.146163 0.582615 NA 0.29 NA 5.2021036 1132 12 68708761 68708761 C T exonic MDM1 NA nonsynonymous SNV MDM1:NM_001205028:exon9:c.G1361A:p.R454H,MDM1:NM_017440:exon9:c.G1466A:p.R489H exonic ENSG00000111554 NA nonsynonymous SNV ENSG00000111554:ENST00000540418:exon8:c.G626A:p.R209H,ENSG00000111554:ENST00000303145:exon9:c.G1466A:p.R489H,ENSG00000111554:ENST00000411698:exon9:c.G1361A:p.R454H NA NA 12q15 NA NA NA NA rs2306393 0.69 0.69 0.702 0.6873 0.7187 0.4504 0.7392 0.857 0.6329 0.71 0.47 0.75 0.86 0.6986 0.86 . . 0.0 B 0.0 B 0.182 N 1.000 P -0.205 N 2.0 T -0.998 T 0.000 T 0.042 1.467 10.85 1.94 0.008 -0.038 4.464 1.466748 1.466748 0.16 0.714186 0.839083 NA 0.681 NA 5.2018474 1132 14 94929541 94929541 G A exonic SERPINA9 NA synonymous SNV SERPINA9:NM_175739:exon5:c.C1197T:p.G399G,SERPINA9:NM_001042518:exon6:c.C897T:p.G299G exonic ENSG00000170054 NA synonymous SNV ENSG00000170054:ENST00000337425:exon5:c.C1197T:p.G399G,ENSG00000170054:ENST00000380365:exon5:c.C1143T:p.G381G,ENSG00000170054:ENST00000448305:exon5:c.C903T:p.G301G,ENSG00000170054:ENST00000298845:exon6:c.C897T:p.G299G,ENSG00000170054:ENST00000424550:exon6:c.C750T:p.G250G NA NA 14q32.13 NA Name=RXRA,SP1 Name=2 NA rs2224418 0.69 0.69 0.652 0.676118 0.8529 0.6478 0.7507 0.3752 0.8773 0.86 0.66 0.75 0.43 0.7771 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272663 NA NA 0.83488 0.483524 NA 0.696 NA 5.2017866 1132 3 159439565 159439565 C T intronic IQCJ-SCHIP1,SCHIP1 NA NA NA ncRNA_exonic ENSG00000243116 NA NA NA Score=693;Name=lod=873 NA 3q25.33 NA NA NA NA rs9865997 0.18 0.18 0.164 0.194089 0.1322 0.1498 0.2565 0.2572 0.1738 0.13 0.15 0.2 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264941 NA NA NA NA NA 0.174 NA 5.2011333 1132 22 46657261 46657261 A G exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.T1959C:p.D653D exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.T1959C:p.D653D NA NA 22q13.31 NA NA NA NA rs6007747 0.22 0.22 0.246 0.245407 0.16 0.001 0.134 0.6785 0.0787 0.15 NA 0.15 0.63 0.1597 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77334 NA NA 0.146163 0.600999 NA 0.304 NA 5.2008036 1132 19 52468998 52468998 A G exonic ZNF350 NA synonymous SNV ZNF350:NM_021632:exon5:c.T708C:p.C236C exonic ENSG00000256683 NA synonymous SNV ENSG00000256683:ENST00000243644:exon5:c.T708C:p.C236C NA NA 19q13.41 NA NA NA NA rs4988334 0.2 0.2 0.228 0.227436 0.1521 0.2331 0.1499 0.2829 0.2791 0.17 0.2 0.13 0.31 0.1787 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.268768 NA NA 0.135233 0.297095 NA 0.261 NA 5.2006336 1132 22 46656511 46656511 A G exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.T2709C:p.I903I exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.T2709C:p.I903I NA NA 22q13.31 NA NA NA NA rs9627324 0.22 0.22 0.245 0.245407 0.16 0.001 0.134 0.6785 0.0787 0.15 NA 0.15 0.63 0.1598 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240043 NA NA 0.146395 0.602587 NA 0.304 NA 5.2004716 1132 22 46656607 46656607 G A exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.C2613T:p.I871I exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.C2613T:p.I871I NA NA 22q13.31 NA NA NA NA rs8143066 0.22 0.22 0.251 0.245407 0.16 0.001 0.134 0.6785 0.0787 0.15 NA 0.15 0.63 0.1597 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073572 NA NA 0.146512 0.60236 NA 0.304 NA 5.2004546 1132 1 186275760 186275760 G A exonic PRG4 NA synonymous SNV PRG4:NM_001127710:exon4:c.G507A:p.K169K,PRG4:NM_001127709:exon5:c.G630A:p.K210K,PRG4:NM_001127708:exon6:c.G786A:p.K262K,PRG4:NM_005807:exon7:c.G909A:p.K303K exonic ENSG00000116690 NA synonymous SNV ENSG00000116690:ENST00000367482:exon4:c.G507A:p.K169K,ENSG00000116690:ENST00000367485:exon5:c.G630A:p.K210K,ENSG00000116690:ENST00000367483:exon6:c.G786A:p.K262K,ENSG00000116690:ENST00000367484:exon6:c.G786A:p.K262K,ENSG00000116690:ENST00000367486:exon6:c.G780A:p.K260K,ENSG00000116690:ENST00000445192:exon7:c.G909A:p.K303K NA NA 1q31.1 NA NA NA NA rs16825150 0.16 0.16 0.171 0.177316 0.1521 0.131 0.0879 0.3101 0.135 0.15 0.11 0.1 0.27 0.1561 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.093987 NA NA 0.158256 0.288697 NA 0.203 NA 5.2002106 1132 14 70352477 70352477 G A intronic SMOC1 NA NA NA ncRNA_exonic ENSG00000242071 NA NA NA Score=799;Name=lod=2366 NA 14q24.2 NA NA NA NA rs55954985 0.16 0.16 0.151 0.196885 0.1332 0.2212 0.1916 0.1369 0.3221 0.15 0.19 0.16 0.13 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864845 NA NA NA NA NA 0.29 NA 5.2001333 1132 9 74825707 74825707 T C intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA Name=Pbx3,STAT3 Name=16 NA rs11143170 0.35 0.35 0.36 0.368011 0.2485 0.5357 0.2781 0.3676 0.3824 0.25 0.55 0.23 0.37 0.3003 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.033191 2.033191 NA 0.251395 0.382433 NA 0.225 NA 5.199805 1132 16 74920191 74920191 G A exonic WDR59 NA synonymous SNV WDR59:NM_030581:exon24:c.C2523T:p.R841R exonic ENSG00000103091 NA synonymous SNV ENSG00000103091:ENST00000262144:exon24:c.C2523T:p.R841R NA NA 16q23.1 NA NA NA NA rs14308 0.11 0.11 0.097 0.0984425 0.167 0.001 0.111 0.143 0.0593 0.16 0.0017 0.12 0.15 0.1359 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062113 NA NA 0.164186 0.148999 NA 0.109 NA 5.1995806 1132 8 17918986 17918986 A G intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA Name=ELF1_(SC-631),GABP,Pol2-4H8 Name=2 NA rs17515291 0.26 0.26 0.233 0.261382 0.2704 0.3036 0.3357 0.0923 0.3845 0.27 0.3 0.35 0.11 0.2728 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195812 NA NA 0.257326 0.110985 NA 0.203 NA 5.199474 1132 7 92764982 92764982 C T exonic SAMD9L NA synonymous SNV SAMD9L:NM_152703:exon5:c.G303A:p.Q101Q exonic ENSG00000177409 NA synonymous SNV ENSG00000177409:ENST00000318238:exon5:c.G303A:p.Q101Q,ENSG00000177409:ENST00000411955:exon6:c.G303A:p.Q101Q,ENSG00000177409:ENST00000437805:exon6:c.G303A:p.Q101Q NA NA 7q21.2 NA NA NA NA rs1133906 0.39 0.39 0.381 0.381789 0.1193 0.5595 0.3631 0.6346 0.1401 0.12 0.58 0.34 0.61 0.2224 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407973 NA NA 0.125698 0.54335 NA 0.377 NA 5.1992686 1132 22 37387505 37387505 C A intronic TEX33 NA NA NA intronic ENSG00000185264 NA NA NA NA NA 22q12.3 NA Name=CTCF Name=17 NA rs9610625 0.23 0.23 0.186 0.238219 0.2674 0.0883 0.353 0.2738 0.2331 0.25 0.07 0.37 0.27 0.2538 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29521 1.29521 NA 0.279651 0.293463 NA 0.217 NA 5.199149 1132 11 118432279 118432279 A G intronic IFT46 NA NA NA ncRNA_exonic ENSG00000243431 NA NA NA Score=809;Name=lod=2592 NA 11q23.3 NA NA NA NA rs11216897 0.24 0.24 0.211 0.272165 0.1342 0.5575 0.0821 0.1959 0.3579 0.13 0.52 0.09 0.18 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218495 NA NA NA NA NA 0.196 NA 5.1991333 1132 3 185146702 185146702 C T exonic MAP3K13 NA synonymous SNV MAP3K13:NM_004721:exon2:c.C333T:p.S111S,MAP3K13:NM_001242314:exon3:c.C333T:p.S111S exonic ENSG00000073803 NA synonymous SNV ENSG00000073803:ENST00000439882:exon1:c.C333T:p.S111S,ENSG00000073803:ENST00000265026:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000428617:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000433092:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000438053:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000424227:exon3:c.C333T:p.S111S,ENSG00000073803:ENST00000447637:exon3:c.C333T:p.S111S NA NA 3q27.2 NA NA NA NA rs3732577 0.22 0.22 0.121 0.147165 0.1581 0.2163 0.1354 0.0129 0.2546 0.25 0.25 0.17 0.16 0.158 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312306 NA NA 0.151744 0.039038 NA 0.152 NA 5.1988226 1132 20 47886684 47886684 G A exonic ZNFX1 NA synonymous SNV ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y exonic ENSG00000124201 NA synonymous SNV ENSG00000124201:ENST00000455070:exon1:c.C1077T:p.Y359Y,ENSG00000124201:ENST00000371744:exon3:c.C1665T:p.Y555Y,ENSG00000124201:ENST00000371752:exon3:c.C1665T:p.Y555Y,ENSG00000124201:ENST00000371754:exon3:c.C1665T:p.Y555Y,ENSG00000124201:ENST00000396105:exon3:c.C1665T:p.Y555Y Score=376;Name=lod=45 NA 20q13.13 Score=707;Name=V$HOX13_01 NA NA NA rs57950 0.78 0.78 0.802 0.779353 0.841 0.621 0.7075 0.9425 0.7096 0.84 0.6 0.75 0.93 0.7911 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091294 NA NA 0.835814 0.921698 NA 0.775 NA 5.1987526 1132 19 53085659 53085659 C T exonic ZNF701 NA nonsynonymous SNV ZNF701:NM_018260:exon4:c.C347T:p.T116I,ZNF701:NM_001172655:exon5:c.C545T:p.T182I exonic ENSG00000167562 NA nonsynonymous SNV ENSG00000167562:ENST00000391785:exon4:c.C347T:p.T116I,ENSG00000167562:ENST00000301093:exon5:c.C545T:p.T182I,ENSG00000167562:ENST00000540331:exon5:c.C545T:p.T182I,ENSG00000167562:ENST00000593941:exon5:c.C545T:p.T182I NA NA 19q13.41 NA NA NA NA rs366793 0.65 0.65 0.647 0.644169 0.7117 0.497 0.6182 0.6694 0.7106 0.72 0.51 0.65 0.71 0.6967 0.73 0.34 T 0.0 B 0.0 B . . 1.000 P -1.095 N 3.51 T -1.079 T 0.000 T 0.052 -0.885 0.47 -1.3 -0.539 0.077 3.692 -0.884709 NA 0.37 0.726395 0.668407 NA 0.681 NA 5.1985384 1132 1 38022452 38022452 C A upstream DNALI1 NA NA NA upstream;downstream ENSG00000163879;ENSG00000237749 NA NA NA NA NA 1p34.3 NA Name=ETS1,TAF1,FOXA1_(C-20),Egr-1,HEY1,IRF1,TBP Name=130 NA rs2273014 0.44 0.44 0.426 0.400559 0.4682 0.5675 0.5562 0.1952 0.3262 0.48 0.53 0.52 0.21 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480337 NA NA NA NA NA 0.464 NA 5.1984666 1132 12 133389998 133389998 T C exonic GOLGA3 NA synonymous SNV GOLGA3:NM_001172557:exon4:c.A414G:p.T138T,GOLGA3:NM_005895:exon4:c.A414G:p.T138T exonic ENSG00000090615 NA synonymous SNV ENSG00000090615:ENST00000450791:exon3:c.A414G:p.T138T,ENSG00000090615:ENST00000537452:exon3:c.A414G:p.T138T,ENSG00000090615:ENST00000204726:exon4:c.A414G:p.T138T,ENSG00000090615:ENST00000456883:exon4:c.A414G:p.T138T,ENSG00000090615:ENST00000545875:exon4:c.A414G:p.T138T NA NA 12q24.33 NA NA NA NA rs7134809 0.09 0.09 0.087 0.072484 0.171 0.0446 0.0735 0.0106 0.0828 0.17 0.05 0.08 0.02 0.1314 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39309 NA NA 0.167093 0.029278 NA 0.109 NA 5.1971736 1132 17 15645289 15645289 G A exonic TBC1D26 NA nonsynonymous SNV TBC1D26:NM_178571:exon11:c.G700A:p.G234S exonic ENSG00000214946 NA nonsynonymous SNV ENSG00000214946:ENST00000437605:exon11:c.G700A:p.G234S,ENSG00000214946:ENST00000469477:exon11:c.G700A:p.G234S NA NA 17p12 NA NA NA NA rs17855672 0.26 0.26 0.226 0.246206 0.3946 0.254 0.2651 0.0809 0.2955 0.39 0.24 0.29 0.07 0.3445 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317349 NA NA 0.397322 0.12747 NA 0.239 NA 5.1969114 1132 14 74876181 74876181 T G exonic SYNDIG1L NA synonymous SNV SYNDIG1L:NM_001105579:exon2:c.A267C:p.T89T exonic ENSG00000183379 NA synonymous SNV ENSG00000183379:ENST00000554823:exon1:c.A267C:p.T89T,ENSG00000183379:ENST00000331628:exon2:c.A267C:p.T89T Score=637;Name=lod=518 NA 14q24.3 NA NA NA NA rs12590672 0.48 0.48 0.467 0.460663 0.494 0.4454 0.4222 0.472 0.454 0.51 0.45 0.47 0.48 0.4777 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893294 NA NA 0.498062 0.4622 NA 0.435 NA 5.1969046 1132 19 21838657 21838657 G A intergenic ZNF429,ZNF100 dist=117578;dist=68186 NA NA ncRNA_exonic ENSG00000268278 NA NA NA Score=371;Name=lod=43 NA 19p12 NA Name=KAP1,ZNF274 NA NA rs7508494 0.79 0.79 0.751 0.773562 0.8032 0.8958 0.7839 0.5817 0.8691 0.81 0.88 0.81 0.63 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887711 NA 1 NA NA NA 0.848 NA 5.1968 1132 1 54432019 54432019 G A exonic LRRC42 NA synonymous SNV LRRC42:NM_052940:exon7:c.G978A:p.E326E,LRRC42:NM_001256409:exon8:c.G978A:p.E326E exonic ENSG00000116212 NA synonymous SNV ENSG00000116212:ENST00000319223:exon7:c.G978A:p.E326E,ENSG00000116212:ENST00000371370:exon8:c.G978A:p.E326E NA NA 1p32.3 NA NA NA NA rs2294514 0.25 0.25 0.266 0.259784 0.1451 0.0605 0.1254 0.7163 0.0613 0.15 0.07 0.13 0.7 0.1752 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786818 NA NA 0.150116 0.59419 NA 0.283 NA 5.1962506 1132 15 42749476 42749476 C T UTR5 ZNF106 NM_022473:c.-73G>A NA NA UTR5 ENSG00000103994 ENST00000263805:c.-73G>A,ENST00000565611:c.-8586G>A,ENST00000565948:c.-5727G>A NA NA NA NA 15q15.1 NA Name=EBF1_(C-8),EBF NA NA rs62022313 0.07 0.07 0.065 0.0523163 0.1372 0.005 0.1037 0.0068 0.0389 0.13 NA 0.12 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449724 NA NA NA NA NA 0.08 NA 5.1961334 1132 17 40481529 40481529 G C intronic STAT3 NA NA NA intronic ENSG00000168610 NA NA NA NA Name=Multiple sclerosis 17q21.2 NA Name=TCF12,TBP,NANOG_(SC-33759),Pol2-4H8,c-Fos,RXRA,TAF1,SP1 Name=115 NA rs2293152 0.62 0.62 0.689 0.653754 0.5964 0.5198 0.513 0.888 0.6339 0.59 0.5 0.52 0.88 0.6025 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623618 NA NA 0.605233 0.849296 NA 0.674 NA 5.195867 1132 6 90340276 90340276 G A exonic ANKRD6 NA synonymous SNV ANKRD6:NM_001242814:exon13:c.G1545A:p.S515S,ANKRD6:NM_001242813:exon15:c.G1632A:p.S544S,ANKRD6:NM_001242809:exon16:c.G1737A:p.S579S,ANKRD6:NM_001242811:exon16:c.G1737A:p.S579S,ANKRD6:NM_014942:exon16:c.G1722A:p.S574S exonic ENSG00000135299 NA synonymous SNV ENSG00000135299:ENST00000520793:exon13:c.G1545A:p.S515S,ENSG00000135299:ENST00000369408:exon15:c.G1632A:p.S544S,ENSG00000135299:ENST00000339746:exon16:c.G1737A:p.S579S,ENSG00000135299:ENST00000447838:exon16:c.G1722A:p.S574S,ENSG00000135299:ENST00000522441:exon16:c.G1737A:p.S579S Score=397;Name=lod=55 NA 6q15 NA NA NA NA rs3210511 0.65 0.65 0.637 0.600839 0.4662 0.9077 0.7003 0.5749 0.3875 0.48 0.91 0.67 0.61 0.5286 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818124 NA NA 0.476064 0.594643 NA 0.254 NA 5.1958026 1132 4 8229774 8229774 C T exonic SH3TC1 NA nonsynonymous SNV SH3TC1:NM_018986:exon12:c.C2353T:p.R785C exonic ENSG00000125089 NA nonsynonymous SNV ENSG00000125089:ENST00000245105:exon12:c.C2353T:p.R785C,ENSG00000125089:ENST00000539824:exon12:c.C2125T:p.R709C NA NA 4p16.1 NA NA NA NA rs1281149 0.51 0.51 0.497 0.475639 0.7306 0.5129 0.5274 0.1286 0.6074 0.73 0.48 0.6 0.14 0.6396 0.77 0.28 T 0.017 B 0.008 B 0.017 N 1.000 P 0.95 L -0.87 T -0.974 T 0.000 T 0.18 -0.838 0.578 1.91 0.684 0.549 2.848 -0.838249 NA 0.08 0.767388 0.240127 NA 0.514 NA 5.1957454 1133 10 72289701 72289701 G A exonic PALD1 NA synonymous SNV PALD1:NM_014431:exon4:c.G345A:p.V115V exonic ENSG00000107719 NA synonymous SNV ENSG00000107719:ENST00000263563:exon4:c.G345A:p.V115V NA NA 10q22.1 NA NA NA NA rs2275059 0.21 0.21 0.177 0.218051 0.1491 0.503 0.2046 0.0166 0.2771 0.14 0.46 0.21 0.02 0.1806 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72456 NA NA 0.142209 0.041988 NA 0.174 NA 5.1947576 1133 19 38861333 38861333 G A exonic CATSPERG NA synonymous SNV CATSPERG:NM_021185:exon29:c.G3381A:p.P1127P exonic ENSG00000099338 NA synonymous SNV ENSG00000099338:ENST00000410018:exon28:c.G3261A:p.P1087P,ENSG00000099338:ENST00000409235:exon29:c.G3381A:p.P1127P NA NA 19q13.2 NA NA Name=5 NA rs1052375 0.31 0.31 0.303 0.269768 0.5249 0.2262 0.3228 0.0363 0.3303 0.52 0.22 0.35 0.05 0.4188 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.297099 NA NA 0.528488 0.119156 NA 0.42 NA 5.1944786 1133 3 44622115 44622115 T C intronic ZKSCAN7 NA NA NA ncRNA_exonic ENSG00000214820 NA NA NA Score=676;Name=lod=742 NA 3p21.31 NA NA NA NA rs113958788 0.08 0.08 0.062 0.0589058 0.1402 0.0427 0.0807 0.0121 0.0399 0.15 0.03 0.1 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073241 NA NA NA NA NA 0.181 NA 5.1931333 1133 2 211168346 211168346 A C intronic MYL1 NA NA NA UTR5 ENSG00000168530 ENST00000341685:c.-78T>G NA NA Score=435;Name=lod=78 NA 2q34 NA NA Name=3 NA rs12469767 0.53 0.53 0.496 0.541733 0.494 0.4692 0.5879 0.618 0.5297 0.5 0.46 0.54 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065967 NA NA 0.479887 0.571532 NA 0.5 NA 5.1927797 1133 11 47500400 47500400 C T intronic CELF1 NA NA NA intronic ENSG00000149187 NA NA NA Score=295;Name=lod=21 NA 11p11.2 NA NA Name=6 NA rs12224672 0.19 0.19 0.187 0.19369 0.2535 0.3264 0.1744 0.0121 0.2546 0.25 0.26 0.19 0.02 0.2713 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.647697 4.647697 NA 0.282457 0.057701 NA 0.225 NA 5.192743 1133 10 38475621 38475621 G A ncRNA_intronic LOC100129055 NA NA NA ncRNA_exonic ENSG00000236309 NA NA NA Score=584;Name=lod=314 NA 10p11.1 NA NA NA NA rs2077456 0.5 0.5 0.491 0.465256 0.4742 0.5665 0.5072 0.4909 0.2873 0.48 0.54 0.5 0.46 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599217 NA NA NA NA NA 0.507 NA 5.1924666 1133 16 17202801 17202801 G A exonic XYLT1 NA synonymous SNV XYLT1:NM_022166:exon12:c.C2631T:p.P877P exonic ENSG00000103489 NA synonymous SNV ENSG00000103489:ENST00000261381:exon12:c.C2631T:p.P877P NA NA 16p12.3 NA NA NA NA rs34511974 0.09 0.09 0.074 0.102636 0.1491 0.002 0.2478 0.0045 0.1881 0.15 0.0035 0.26 0.0041 0.1691 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597514 NA NA 0.156047 0.035048 ID=COSM1376157;OCCURENCE=1(large_intestine) 0.065 NA 5.1924196 1133 7 98596408 98596408 G A intronic TRRAP NA NA NA ncRNA_exonic ENSG00000238109 NA NA NA Score=538;Name=lod=205 NA 7q22.1 NA NA NA NA rs219831 0.32 0.32 0.338 0.323682 0.1412 0.2123 0.2349 0.7663 0.091 0.14 0.24 0.25 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165945 NA NA NA NA NA 0.333 NA 5.1921333 1133 13 114175004 114175004 C T exonic TMCO3 NA synonymous SNV TMCO3:NM_017905:exon8:c.C1299T:p.A433A exonic ENSG00000150403 NA synonymous SNV ENSG00000150403:ENST00000434316:exon8:c.C1299T:p.A433A NA NA 13q34 NA NA NA NA rs2260334 0.24 0.24 0.254 0.244209 0.1571 0.2728 0.1499 0.4213 0.1319 0.15 0.26 0.15 0.41 0.1704 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143678 NA NA 0.147209 0.353836 NA 0.217 NA 5.1919576 1133 1 152281008 152281008 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T6354C:p.H2118H exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T6354C:p.H2118H NA NA 1q21.3 NA NA NA NA rs7512554 NA NA 0.209 0.327676 0.1282 0.4355 0.3357 0.3843 0.3395 NA NA NA NA 0.2207 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320816 NA NA 0.12593 0.328189 NA NA NA 5.1918366 1133 15 76067771 76067771 A C intergenic MIR4313,UBE2Q2 dist=13115;dist=67851 NA NA upstream ENSG00000187812 NA NA NA NA NA 15q24.2 NA Name=TCF4,TBP,IRF1 Name=19 NA rs34951369 0.32 0.32 0.279 0.315695 0.3082 0.3026 0.3862 0.3343 0.2618 0.32 0.28 0.36 0.32 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409428 NA NA NA NA NA 0.283 NA 5.1918 1133 11 75152243 75152243 C T exonic GDPD5 NA nonsynonymous SNV GDPD5:NM_030792:exon14:c.G1438A:p.A480T exonic ENSG00000158555 NA nonsynonymous SNV ENSG00000158555:ENST00000534322:exon2:c.G190A:p.A64T,ENSG00000158555:ENST00000533784:exon9:c.G1081A:p.A361T,ENSG00000158555:ENST00000533805:exon9:c.G703A:p.A235T,ENSG00000158555:ENST00000376282:exon10:c.G1081A:p.A361T,ENSG00000158555:ENST00000526177:exon10:c.G1024A:p.A342T,ENSG00000158555:ENST00000336898:exon14:c.G1438A:p.A480T,ENSG00000158555:ENST00000529721:exon15:c.G1438A:p.A480T NA NA 11q13.4 NA NA NA NA rs571353 0.71 0.71 0.684 0.667133 0.7147 0.9236 0.719 0.4569 0.6012 0.71 0.92 0.71 0.44 0.6969 0.92 0.52 T 0.0 B 0.001 B 0.915 N 1.000 P -1.04 N 0.87 T -1.000 T 0.000 T 0.317 0.507 6.751 -0.093 -0.362 -0.306 10.374 0.507351 NA 0.55 0.730026 0.510455 ID=COSM330244;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) 0.594 NA 5.1917074 1133 1 11852300 11852300 C T intronic MTHFR NA NA NA intronic ENSG00000177000 NA NA NA NA NA 1p36.22 NA Name=CEBPB Name=11 NA rs1476413 0.22 0.22 0.22 0.251198 0.2803 0.2351 0.1398 0.1452 0.4601 0.29 0.21 0.17 0.15 0.2677 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.940787 1.940787 NA 0.260698 0.149115 NA 0.21 NA 5.191302 1133 3 44619893 44619893 C T intronic ZKSCAN7 NA NA NA ncRNA_intronic ENSG00000236869 NA NA NA Score=637;Name=lod=517 NA 3p21.31 NA NA NA NA rs7650486 0.11 0.11 0.109 0.0874601 0.1431 0.0427 0.1009 0.1067 0.0409 0.16 0.03 0.12 0.13 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230003 NA NA NA NA NA 0.181 NA 5.1902333 1133 3 44620008 44620008 G A intronic ZKSCAN7 NA NA NA ncRNA_intronic ENSG00000236869 NA NA NA Score=637;Name=lod=517 NA 3p21.31 NA NA NA NA rs7627777 0.11 0.11 0.115 0.0864617 0.1431 0.0437 0.1009 0.1021 0.0409 0.16 0.03 0.12 0.12 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426969 NA NA NA NA NA 0.203 NA 5.1902333 1133 3 44620855 44620855 C T intronic ZKSCAN7 NA NA NA ncRNA_intronic ENSG00000236869 NA NA NA Score=504;Name=lod=149 NA 3p21.31 NA NA NA NA rs111593586 0.13 0.13 0.144 0.10603 0.1431 0.0427 0.1009 0.177 0.0409 0.16 0.03 0.12 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18928 NA NA NA NA NA 0.188 NA 5.1902333 1133 16 10206175 10206175 T C intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs11866570 0.1 0.1 0.094 0.0874601 0.1431 0.003 0.085 0.1687 0.0092 0.13 0.0035 0.1 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677397 NA NA NA NA NA 0.08 NA 5.1902333 1133 11 116633825 116633825 C T exonic BUD13 NA synonymous SNV BUD13:NM_001159736:exon4:c.G480A:p.P160P,BUD13:NM_032725:exon4:c.G480A:p.P160P exonic ENSG00000137656 NA synonymous SNV ENSG00000137656:ENST00000260210:exon4:c.G480A:p.P160P,ENSG00000137656:ENST00000375445:exon4:c.G480A:p.P160P Score=340;Name=lod=32 NA 11q23.3 NA NA NA NA rs918144 0.51 0.51 0.488 0.545128 0.4821 0.381 0.6023 0.6785 0.5583 0.46 0.42 0.59 0.65 0.5179 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9382 NA NA 0.47649 0.621536 NA 0.471 NA 5.1901766 1133 6 159166486 159166486 A G intronic SYTL3 NA NA NA intronic ENSG00000164674 NA NA NA NA NA 6q25.3 Score=844;Name=V$EVI1_04 Name=KAP1 NA NA rs6914168 0.25 0.25 0.234 0.27496 0.2505 0.1121 0.1628 0.4486 0.3129 0.25 0.09 0.21 0.47 0.3061 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790186 NA NA 0.253547 0.413527 NA 0.246 NA 5.189853 1133 17 39122797 39122797 G A exonic KRT39 NA synonymous SNV KRT39:NM_213656:exon1:c.C312T:p.N104N exonic ENSG00000196859 NA synonymous SNV ENSG00000196859:ENST00000355612:exon1:c.C312T:p.N104N,ENSG00000196859:ENST00000578078:exon1:c.C312T:p.N104N NA NA 17q21.2 NA NA NA NA rs10491137 0.15 0.15 0.157 0.167332 0.159 0.0327 0.1628 0.2466 0.2106 0.16 0.04 0.15 0.25 0.1601 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.50597 NA NA 0.157821 0.221289 NA 0.203 NA 5.1897456 1133 18 56358011 56358011 G A intronic MALT1 NA NA NA ncRNA_exonic ENSG00000266946 NA NA NA Score=333;Name=lod=30 NA 18q21.32 NA NA NA NA rs56709204 0.15 0.15 0.147 0.155751 0.1441 0.0179 0.1916 0.3139 0.0706 0.15 0.02 0.19 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005183 NA NA NA NA NA 0.159 NA 5.1892333 1133 6 4715980 4715980 C A intergenic ECI2,CDYL dist=580149;dist=60700 NA NA UTR5 ENSG00000153046 ENST00000328908:c.-33C>A NA NA Score=389;Name=lod=51 NA 6p25.1 NA NA Name=5 NA rs3812180 0.25 0.25 0.239 0.223043 0.2247 0.2679 0.3199 0.2685 0.045 0.22 0.24 0.28 0.27 0.2095 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.382372 1.382372 NA 0.210116 0.257376 ID=COSN167678;OCCURENCE=1(large_intestine) 0.29 NA 5.1890174 1133 19 51918112 51918112 A G exonic SIGLEC10 NA synonymous SNV SIGLEC10:NM_001171156:exon8:c.T1407C:p.H469H,SIGLEC10:NM_033130:exon8:c.T1581C:p.H527H exonic ENSG00000142512 NA synonymous SNV ENSG00000142512:ENST00000339313:exon8:c.T1581C:p.H527H,ENSG00000142512:ENST00000356298:exon8:c.T1581C:p.H527H,ENSG00000142512:ENST00000439889:exon8:c.T1407C:p.H469H NA NA 19q13.41 NA NA NA NA rs3810099 0.21 0.21 0.22 0.243211 0.1501 0.2113 0.1974 0.3835 0.2147 0.15 0.19 0.18 0.36 0.1783 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082598 NA NA 0.150116 0.344076 NA 0.232 NA 5.1881506 1133 4 189012728 189012728 G C exonic TRIML2 NA synonymous SNV TRIML2:NM_173553:exon7:c.C963G:p.G321G exonic ENSG00000179046 NA synonymous SNV ENSG00000179046:ENST00000512729:exon7:c.C963G:p.G321G,ENSG00000179046:ENST00000326754:exon8:c.C1038G:p.G346G NA NA 4q35.2 Score=780;Name=V$PAX2_01 NA NA NA rs2279550 0.67 0.67 0.687 0.71246 0.4642 0.9117 0.5663 0.8177 0.7239 0.45 0.9 0.56 0.8 0.5575 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090699 NA NA 0.457326 0.762823 NA 0.572 NA 5.1876406 1133 12 26784850 26784850 G A exonic ITPR2 NA synonymous SNV ITPR2:NM_002223:exon22:c.C2883T:p.H961H exonic ENSG00000123104 NA synonymous SNV ENSG00000123104:ENST00000381340:exon22:c.C2883T:p.H961H NA NA 12p11.23 NA Name=GATA-2 NA NA rs2230372 0.46 0.46 0.457 0.492812 0.497 0.3839 0.3285 0.5393 0.6544 0.49 0.37 0.37 0.58 0.4856 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06393 NA NA 0.496679 0.571394 NA 0.543 NA 5.1873876 1133 8 6331612 6331612 G A intronic MCPH1 NA NA NA ncRNA_exonic ENSG00000253550 NA NA NA Score=622;Name=lod=450 NA 8p23.1 NA NA NA NA rs60915478 0.16 0.16 0.165 0.173722 0.1461 0.1806 0.1124 0.2088 0.1912 0.14 0.17 0.1 0.21 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19757 NA NA NA NA NA 0.304 NA 5.1872333 1133 3 196674879 196674879 A G exonic PIGZ NA synonymous SNV PIGZ:NM_025163:exon3:c.T889C:p.L297L exonic ENSG00000119227 NA synonymous SNV ENSG00000119227:ENST00000412723:exon3:c.T889C:p.L297L Score=464;Name=lod=103 NA 3q29 NA NA NA NA rs12636891 0.6 0.6 0.605 0.592452 0.4881 0.755 0.6095 0.6036 0.5051 0.5 0.78 0.55 0.61 0.5381 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738041 NA NA 0.453605 0.567408 NA 0.565 NA 5.1868616 1133 12 104100617 104100617 C T exonic STAB2 NA synonymous SNV STAB2:NM_017564:exon38:c.C4044T:p.C1348C exonic ENSG00000136011 NA synonymous SNV ENSG00000136011:ENST00000388887:exon38:c.C4044T:p.C1348C Score=426;Name=lod=72 NA 12q23.3 NA NA NA NA rs697212 0.45 0.45 0.437 0.430911 0.504 0.747 0.3256 0.1203 0.5245 0.51 0.7 0.36 0.12 0.4835 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636914 NA NA 0.492326 0.195642 NA 0.304 NA 5.1868406 1133 5 140581510 140581510 G T exonic PCDHB11 NA synonymous SNV PCDHB11:NM_018931:exon1:c.G2163T:p.S721S exonic ENSG00000197479 NA synonymous SNV ENSG00000197479:ENST00000354757:exon1:c.G2163T:p.S721S,ENSG00000197479:ENST00000536699:exon2:c.G1068T:p.S356S NA NA 5q31.3 NA NA NA NA rs638054 0.26 0.26 0.237 NA NA NA NA NA NA 0.22 0.52 0.24 0.02 0.2584 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638589 NA NA 0.221512 0.041761 NA 0.261 NA 5.1867546 1133 17 74383475 74383475 T C exonic SPHK1 NA synonymous SNV SPHK1:NM_001142602:exon5:c.T963C:p.Y321Y,SPHK1:NM_001142601:exon6:c.T963C:p.Y321Y,SPHK1:NM_021972:exon6:c.T1005C:p.Y335Y,SPHK1:NM_182965:exon6:c.T1221C:p.Y407Y exonic ENSG00000176170 NA synonymous SNV ENSG00000176170:ENST00000392496:exon5:c.T963C:p.Y321Y,ENSG00000176170:ENST00000323374:exon6:c.T1221C:p.Y407Y,ENSG00000176170:ENST00000590959:exon6:c.T1005C:p.Y335Y,ENSG00000176170:ENST00000592299:exon6:c.T963C:p.Y321Y,ENSG00000176170:ENST00000545180:exon8:c.T963C:p.Y321Y NA NA 17q25.1 NA NA NA NA rs3744037 0.24 0.24 0.23 0.214257 0.1392 0.4028 0.1715 0.2057 0.1391 0.14 0.42 0.17 0.22 0.1763 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.238106 NA NA 0.164651 0.21153 NA 0.254 NA 5.1865156 1133 2 133539566 133539566 G A exonic NCKAP5 NA synonymous SNV NCKAP5:NM_207363:exon14:c.C4818T:p.H1606H exonic ENSG00000176771 NA synonymous SNV ENSG00000176771:ENST00000317721:exon12:c.C4818T:p.H1606H,ENSG00000176771:ENST00000409261:exon14:c.C4818T:p.H1606H Score=284;Name=lod=19 NA 2q21.2 NA NA NA NA rs6730282 0.56 0.56 0.567 0.535942 0.4702 0.745 0.4813 0.4985 0.4775 0.47 0.78 0.48 0.49 0.5073 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.019871 NA NA 0.503386 0.525521 NA 0.638 NA 5.1857806 1133 5 76586373 76586373 G A intronic PDE8B NA NA NA ncRNA_exonic ENSG00000251400 NA NA NA Score=812;Name=lod=2659 NA 5q13.3 NA NA NA NA rs3797461 0.17 0.17 0.16 0.149361 0.1481 0.3274 0.1326 0.0749 0.0798 0.15 0.31 0.16 0.08 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444118 NA NA NA NA NA 0.08 NA 5.1852333 1133 2 98986510 98986510 T C exonic CNGA3 NA synonymous SNV CNGA3:NM_001079878:exon2:c.T72C:p.D24D,CNGA3:NM_001298:exon2:c.T72C:p.D24D exonic ENSG00000144191 NA synonymous SNV ENSG00000144191:ENST00000272602:exon1:c.T72C:p.D24D,ENSG00000144191:ENST00000393504:exon2:c.T72C:p.D24D,ENSG00000144191:ENST00000436404:exon2:c.T72C:p.D24D NA NA 2q11.2 NA NA NA NA rs6727412 0.1 0.1 0.099 0.0898562 0.166 0.0099 0.1282 0.084 0.0746 0.16 0.0017 0.11 0.1 0.1386 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152465 NA NA 0.176977 0.108488 NA 0.109 NA 5.1850896 1134 19 16976289 16976289 T C exonic SIN3B NA synonymous SNV SIN3B:NM_015260:exon12:c.T1548C:p.S516S exonic ENSG00000127511 NA synonymous SNV ENSG00000127511:ENST00000595541:exon2:c.T222C:p.S74S,ENSG00000127511:ENST00000248054:exon11:c.T1452C:p.S484S,ENSG00000127511:ENST00000379803:exon12:c.T1548C:p.S516S NA NA 19p13.11 NA NA NA NA rs2303091 0.17 0.17 0.137 0.158147 0.162 0.2778 0.2104 0.0204 0.18 0.15 0.27 0.22 0.03 0.1625 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132363 NA NA 0.157558 0.041307 NA 0.123 NA 5.1846086 1134 4 166326596 166326596 C T intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA Score=519;Name=lod=172 NA 4q32.3 NA NA NA NA rs77038092 0.13 0.13 0.119 0.113618 0.1491 0.1478 0.1326 0.0514 0.1125 0.14 0.15 0.16 0.05 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886351 NA NA NA NA NA 0.087 NA 5.1842333 1134 20 34132256 34132256 C T intronic ERGIC3 NA NA NA ncRNA_exonic ENSG00000224497 NA NA NA Score=655;Name=lod=615 NA 20q11.22 NA NA NA NA rs11700250 0.16 0.16 0.159 0.203874 0.1491 0.1399 0.1614 0.2436 0.3027 0.13 0.13 0.18 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428176 NA NA NA NA NA 0.13 NA 5.1842333 1134 13 50057097 50057097 G A exonic SETDB2 NA nonsynonymous SNV SETDB2:NM_001160308:exon8:c.G1381A:p.V461M,SETDB2:NM_031915:exon10:c.G1417A:p.V473M exonic ENSG00000136169 NA nonsynonymous SNV ENSG00000136169:ENST00000258672:exon9:c.G1381A:p.V461M,ENSG00000136169:ENST00000354234:exon9:c.G1381A:p.V461M,ENSG00000136169:ENST00000317257:exon10:c.G1417A:p.V473M NA NA 13q14.2 NA NA NA NA rs2057413 0.82 0.82 0.807 0.820687 0.6909 0.873 0.7839 0.9675 0.728 0.7 0.87 0.8 0.95 0.7572 0.95 0.12 T 0.001 B 0.004 B 0.812 N 1.000 P 0.55 N 1.13 T -0.957 T 0.000 T 0.033 -0.281 2.655 -0.814 -0.236 -0.045 5.811 -0.281056 NA 0.16 0.701744 0.932592 NA 0.804 NA 5.1834894 1134 1 186274133 186274133 C T ncRNA_intronic MIR548F1,RNU6-72P NA NA NA intronic ENSG00000116690 NA NA NA NA NA 1q31.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs6425024 0.16 0.16 0.165 0.175919 0.1501 0.1339 0.0879 0.3041 0.135 0.15 0.12 0.1 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31203 NA NA NA NA NA 0.188 NA 5.1832333 1134 3 159713078 159713078 A C intronic IL12A NA NA NA ncRNA_intronic ENSG00000244040 NA NA NA NA NA 3q25.33 NA NA NA NA NA NA NA NA 0.0485224 0.1501 0.001 0.0865 0.0083 0.0204 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590122 NA NA NA NA NA NA NA 5.1832333 1134 12 27064232 27064232 C T exonic ASUN NA synonymous SNV ASUN:NM_018164:exon15:c.G1824A:p.E608E exonic ENSG00000064102 NA synonymous SNV ENSG00000064102:ENST00000538155:exon6:c.G765A:p.E255E,ENSG00000064102:ENST00000539625:exon13:c.G1521A:p.E507E,ENSG00000064102:ENST00000261191:exon15:c.G1824A:p.E608E Score=508;Name=lod=155 NA 12p11.23 NA NA NA NA rs3210635 0.57 0.57 0.551 0.579273 0.492 0.7609 0.4366 0.5514 0.6207 0.49 0.78 0.44 0.54 0.5184 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636272 NA NA 0.473366 0.514526 NA 0.522 NA 5.1829006 1134 5 112899573 112899573 T C exonic YTHDC2 NA synonymous SNV YTHDC2:NM_022828:exon20:c.T2460C:p.D820D exonic ENSG00000047188 NA synonymous SNV ENSG00000047188:ENST00000161863:exon20:c.T2460C:p.D820D NA NA 5q22.2 NA NA NA NA rs6867579 0.11 0.11 0.111 0.0936502 0.1759 0.0794 0.0908 0.025 0.1186 0.19 0.07 0.11 0.02 0.1363 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661262 NA NA 0.171628 0.049273 NA 0.058 NA 5.1828386 1134 14 58471349 58471349 G A UTR3 C14orf37 NM_001001872:c.*105C>T NA NA UTR3 ENSG00000139971 ENST00000267485:c.*105C>T NA NA NA NA 14q23.1 Score=852;Name=V$GATA1_03 NA NA NA rs17807721 0.09 0.09 0.071 0.0830671 0.1511 0.0476 0.1282 0.0174 0.1063 0.14 0.05 0.14 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370706 NA NA NA NA NA 0.043 NA 5.1822334 1134 1 168698173 168698173 C T exonic DPT NA synonymous SNV DPT:NM_001937:exon1:c.G240A:p.T80T exonic ENSG00000143196 NA synonymous SNV ENSG00000143196:ENST00000367817:exon1:c.G240A:p.T80T NA NA 1q24.2 Score=827;Name=V$EGR2_01 NA NA NA rs1052591 0.33 0.33 0.33 0.317492 0.5129 0.1637 0.3141 0.2519 0.3661 0.5 0.16 0.31 0.26 0.4302 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921087 NA NA 0.541628 0.326373 ID=COSM1560468;OCCURENCE=1(large_intestine) 0.384 NA 5.1819386 1134 15 101094335 101094335 C G ncRNA_exonic PRKXP1 NA NA NA ncRNA_exonic ENSG00000259205 NA NA NA Score=686;Name=lod=817 NA 15q26.3 NA NA NA NA rs28628432 0.33 0.33 0.34 0.307708 0.4851 0.244 0.2608 0.1959 0.3753 0.5 0.25 0.3 0.2 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146297 NA NA NA NA ID=COSN165069;OCCURENCE=1(breast),1(NS) 0.355 NA 5.1815666 1134 6 17834198 17834198 T G exonic KIF13A NA synonymous SNV KIF13A:NM_001105566:exon12:c.A1260C:p.I420I,KIF13A:NM_001105567:exon12:c.A1260C:p.I420I,KIF13A:NM_001105568:exon12:c.A1260C:p.I420I,KIF13A:NM_022113:exon12:c.A1260C:p.I420I exonic ENSG00000137177 NA synonymous SNV ENSG00000137177:ENST00000259711:exon12:c.A1260C:p.I420I,ENSG00000137177:ENST00000378814:exon12:c.A1260C:p.I420I,ENSG00000137177:ENST00000378816:exon12:c.A1260C:p.I420I,ENSG00000137177:ENST00000378826:exon12:c.A1260C:p.I420I,ENSG00000137177:ENST00000378843:exon12:c.A1260C:p.I420I Score=585;Name=lod=317 NA 6p22.3 NA NA NA NA rs4716189 0.42 0.42 0.368 0.436701 0.496 0.4018 0.5144 0.2988 0.5429 0.49 0.4 0.48 0.31 0.5069 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197607 NA NA 0.482544 0.336048 NA 0.529 NA 5.1812226 1134 9 125316033 125316033 T C exonic OR1N2 NA synonymous SNV OR1N2:NM_001004457:exon1:c.T585C:p.Y195Y exonic ENSG00000171501 NA synonymous SNV ENSG00000171501:ENST00000373688:exon1:c.T585C:p.Y195Y Score=361;Name=lod=39 NA 9q33.2 NA NA NA NA rs1341042 0.55 0.55 0.509 0.558906 0.4791 0.6637 0.5908 0.5961 0.4601 0.47 0.62 0.58 0.57 0.517 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66066 NA NA 0.489651 0.574217 NA 0.428 NA 5.1809156 1134 19 42315300 42315300 G T UTR3 CEACAM3 NM_001815:c.*25G>T,NM_001277163:c.*40G>T NA NA UTR3 ENSG00000170956 ENST00000357396:c.*25G>T,ENST00000221999:c.*92G>T,ENST00000415495:c.*754G>T,ENST00000344550:c.*40G>T NA NA NA NA 19q13.2 NA Name=PU.1,NFKB Name=9 NA rs2008808 0.5 0.5 0.509 0.519169 0.3748 0.5357 0.4841 0.7526 0.3599 0.37 0.55 0.42 0.7 0.4074 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223734 NA NA 0.370453 0.646059 NA 0.536 NA 5.1806804 1134 2 170032989 170032989 C T exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon54:c.G10503A:p.Q3501Q exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000263816:exon54:c.G10503A:p.Q3501Q NA NA 2q31.1 NA NA NA NA rs2229265 0.37 0.37 0.346 0.379593 0.496 0.1062 0.6268 0.2995 0.4744 0.49 0.11 0.62 0.31 0.4725 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015484 NA NA 0.517558 0.322288 NA 0.413 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117498.2;CLNDSDB=.;CLNDSDBID=. 5.1806086 1134 21 47545823 47545823 G A exonic COL6A2 NA synonymous SNV COL6A2:NM_001849:exon26:c.G2094A:p.A698A,COL6A2:NM_058174:exon26:c.G2094A:p.A698A,COL6A2:NM_058175:exon26:c.G2094A:p.A698A exonic ENSG00000142173 NA synonymous SNV ENSG00000142173:ENST00000397763:exon25:c.G2094A:p.A698A,ENSG00000142173:ENST00000409416:exon25:c.G2094A:p.A698A,ENSG00000142173:ENST00000300527:exon26:c.G2094A:p.A698A,ENSG00000142173:ENST00000310645:exon26:c.G2094A:p.A698A,ENSG00000142173:ENST00000357838:exon26:c.G2094A:p.A698A NA NA 21q22.3 NA NA NA NA rs13052956 0.44 0.44 0.42 0.394169 0.5109 0.4306 0.6398 0.208 0.3139 0.53 0.41 0.62 0.22 0.4755 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610217 NA NA 0.500349 0.241716 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079869.2;CLNDSDB=.;CLNDSDBID=. 5.1799176 1134 5 87677848 87677848 C T ncRNA_intronic TMEM161B-AS1 NA NA NA ncRNA_exonic ENSG00000240083 NA NA NA Score=787;Name=lod=2101 NA 5q14.3 NA NA NA NA rs4916720 0.58 0.58 0.6 0.614816 0.4871 0.3889 0.5389 0.9539 0.5746 0.49 0.4 0.57 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254071 NA NA NA NA NA 0.601 NA 5.1795666 1134 10 5203864 5203864 C T ncRNA_exonic AKR1CL1 NA NA NA exonic ENSG00000196326 NA synonymous SNV ENSG00000196326:ENST00000334314:exon3:c.G333A:p.P111P,ENSG00000196326:ENST00000488756:exon3:c.G333A:p.P111P Score=346;Name=lod=34 NA 10p15.1 NA NA NA NA rs11253021 0.21 0.21 0.21 0.18131 0.3588 NA 0.183 0.2057 0.1513 0.35 NA 0.22 0.22 0.2749 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126783 NA NA 0.353605 0.231049 NA 0.145 NA 5.1793616 1134 9 125391369 125391369 A G exonic OR1B1 NA nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T446C:p.L149S exonic ENSG00000171484 NA nonsynonymous SNV ENSG00000171484:ENST00000304833:exon1:c.T446C:p.L149S NA NA 9q33.2 NA NA NA NA rs1536929 0.63 0.63 0.643 0.641374 0.7207 0.6409 0.5965 0.4357 0.8701 0.73 0.69 0.6 0.43 0.7012 0.73 0.08 T 0.001 B 0.006 B 0.263 N 1.000 P 0.595 N 1.07 T -1.007 T 0.000 T 0.081 -1.476 0.018 1.96 0.787 0.040 6.862 -1.475677 NA 0.53 0.732558 0.508171 NA 0.761 NA 5.1788754 1134 1 248366792 248366792 T C exonic OR2M3 NA synonymous SNV OR2M3:NM_001004689:exon1:c.T423C:p.C141C exonic ENSG00000228198 NA synonymous SNV ENSG00000228198:ENST00000456743:exon1:c.T423C:p.C141C NA NA 1q44 NA NA NA NA rs12562957 0.22 0.22 0.219 0.246006 0.1451 0.3542 0.255 0.171 0.3333 0.16 0.35 0.21 0.18 0.1966 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234462 NA NA 0.146279 0.156151 NA 0.188 NA 5.1786876 1134 20 56136536 56136536 A G exonic PCK1 NA synonymous SNV PCK1:NM_002591:exon2:c.A69G:p.L23L exonic ENSG00000124253 NA synonymous SNV ENSG00000124253:ENST00000319441:exon2:c.A69G:p.L23L Score=361;Name=lod=39 NA 20q13.31 NA NA NA NA rs1042521 0.42 0.42 0.406 0.396965 0.5278 0.377 0.3761 0.3064 0.4202 0.53 0.38 0.41 0.3 0.4539 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178716 NA NA 0.506395 0.333863 NA 0.486 NA 5.1785716 1134 6 29856347 29856347 C T ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA Name=ZEB1_(SC-25388) Name=64 NA rs3128875 0.73 0.73 0.75 0.757388 0.7376 0.6915 0.7954 0.8268 0.7249 0.72 0.67 0.75 0.82 0.7507 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427751 NA NA NA NA NA 0.536 NA 5.1783666 1134 5 147012186 147012186 C T ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA NA NA 5q32 NA NA Name=2 NA rs3763093 0.13 0.13 0.111 0.156749 0.1551 0.2063 0.2205 0.0219 0.2444 0.14 0.19 0.18 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249871 NA NA NA NA NA 0.159 NA 5.1782333 1134 9 100849682 100849682 T G UTR3 TRIM14 NM_014788:c.*70A>C NA NA UTR3 ENSG00000106785 ENST00000341469:c.*70A>C,ENST00000538344:c.*70A>C NA NA NA NA 9q22.33 NA Name=CTCF NA NA rs78845704 0.11 0.11 0.079 0.0858626 0.0815 0.251 0.0533 0.0015 0.0573 0.09 0.26 0.07 0.002 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406431 NA NA 0.073853 0.018786 NA 0.029 NA 5.1779804 1134 1 192778159 192778159 A T upstream RGS2 NA NA NA upstream ENSG00000116741 NA NA NA NA NA 1q31.2 NA Name=TBP,GTF2F1_(RAP-74),IRF1,GTF2B,Oct-2,SRF,CCNT2,Max,NFKB,HEY1,Rad21,TAF7_(SQ-8),Sin3Ak-20,Pol2-4H8,USF1_(SC-8983),SP1,NRSF,Pol2,Pol2(phosphoS2),Ini1,POU2F2,HMGN3,TAL1_(SC-12984),E2F6_(H-50),ETS1,JunD,Pol2(b),TAF1,CTCFL_(SC-98982) Name=148 NA rs12130714 0.1 0.1 0.092 0.0826677 0.1809 0.0575 0.1196 0.0197 0.0665 0.16 0.05 0.14 0.01 0.1228 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222683 NA NA 0.185116 0.04108 NA 0.13 NA 5.1778506 1134 8 23291835 23291835 T C exonic ENTPD4 NA synonymous SNV ENTPD4:NM_001128930:exon12:c.A1593G:p.P531P,ENTPD4:NM_004901:exon12:c.A1617G:p.P539P exonic ENSG00000197217 NA synonymous SNV ENSG00000197217:ENST00000518471:exon3:c.A402G:p.P134P,ENSG00000197217:ENST00000356206:exon12:c.A1593G:p.P531P,ENSG00000197217:ENST00000358689:exon12:c.A1617G:p.P539P,ENSG00000197217:ENST00000417069:exon12:c.A1593G:p.P531P NA NA 8p21.3 NA NA NA NA rs1142283 0.12 0.12 0.109 0.104633 0.1779 0.0565 0.2305 0.0401 0.0767 0.2 0.06 0.2 0.03 0.141 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096141 NA NA 0.170465 0.066273 NA 0.123 NA 5.1773016 1134 6 55620251 55620251 C T UTR3 BMP5 NM_021073:c.*80G>A NA NA UTR3 ENSG00000112175 ENST00000370830:c.*80G>A,ENST00000446683:c.*80G>A NA NA Score=295;Name=lod=21 NA 6p12.1 NA NA NA NA rs3756990 0.16 0.16 0.141 0.182109 0.1561 0.1548 0.2075 0.0998 0.3303 0.16 0.17 0.2 0.1 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486935 NA NA NA NA NA 0.116 NA 5.1772334 1134 6 119500916 119500916 T C UTR3 MAN1A1 NM_005907:c.*68A>G NA NA UTR3 ENSG00000111885 ENST00000368468:c.*68A>G NA NA Score=488;Name=lod=128 NA 6q22.31 NA NA NA NA rs3756943 0.16 0.16 0.145 0.13758 0.1561 0.2163 0.1282 0.0325 0.1861 0.17 0.24 0.18 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.808125 1.808125 NA NA NA NA 0.138 NA 5.1772334 1134 17 17079636 17079636 C T intronic MPRIP NA NA NA ncRNA_intronic ENSG00000263624 NA NA NA NA NA 17p11.2 NA NA Name=11 NA rs55784627 0.07 0.07 0.066 0.0515176 0.1561 NA 0.0937 0.0068 0.0276 0.13 NA 0.12 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051473 NA NA NA NA NA 0.058 NA 5.1772333 1134 3 183900680 183900680 G C intronic AP2M1 NA NA NA exonic ENSG00000161203 NA nonsynonymous SNV ENSG00000161203:ENST00000442686:exon3:c.G267C:p.E89D NA NA 3q27.1 NA NA NA NA rs843366 0.34 0.34 0.316 0.341853 0.3072 0.5437 0.2983 0.1762 0.4243 0.3 0.56 0.3 0.19 0.3644 0.56 . . . . . . . . 1.000 P . . . . -0.916 T 0.000 T 0.106 0.284 5.539 -1.21 -0.245 -0.251 5.939 0.284357 NA 0.5 0.318027 0.19555 NA 0.232 NA 5.1770397 1134 6 31322121 31322121 C T intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8 Name=4 NA rs2428496 0.82 0.82 0.823 0.83726 0.8231 0.7629 0.879 0.8495 0.8824 0.81 0.76 0.88 0.84 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018297 NA NA NA NA NA 0.855 NA 5.1769 1134 7 45753324 45753324 G A exonic ADCY1 NA synonymous SNV ADCY1:NM_021116:exon20:c.G3090A:p.R1030R exonic ENSG00000164742 NA synonymous SNV ENSG00000164742:ENST00000297323:exon20:c.G3090A:p.R1030R NA NA 7p12.3 NA NA NA NA rs2293106 0.16 0.16 0.175 0.167133 0.173 0.121 0.1167 0.32 0.0378 0.17 0.1 0.14 0.24 0.149 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380686 NA NA 0.167791 0.304358 NA 0.246 NA 5.1768756 1134 18 56204410 56204410 C T exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.G3009A:p.R1003R exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G3009A:p.R1003R NA NA 18q21.32 NA Name=Pol2-4H8 NA NA rs55910046 0.43 0.43 NA 0.404353 0.5736 0.2371 0.4294 0.4304 0.3497 0.58 0.24 0.51 0.38 0.4578 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311738 NA NA 0.458479 0.388788 ID=COSM1389315;OCCURENCE=1(large_intestine) NA NA 5.1767876 1134 11 64787880 64787880 T C ncRNA_intronic ARL2-SNX15 NA NA NA intronic ENSG00000213465 NA NA NA NA NA 11q13.1 Score=851;Name=V$EVI1_05 NA NA NA rs79393344 0.05 0.05 0.055 0.0601038 0.0467 NA 0.0432 0.1301 0.0532 0.05 NA 0.04 0.12 0.0581 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455643 NA NA 0.051897 0.108587 NA 0.051 NA 5.1766363 1134 11 119209979 119209979 T A UTR3 C1QTNF5,MFRP NM_015645:c.*62A>T;NM_031433:c.*1690A>T NA NA UTR3 ENSG00000223953,ENSG00000235718,ENSG00000259159 ENST00000445041:c.*62A>T,ENST00000528368:c.*62A>T;ENST00000555262:c.*1690A>T;ENST00000530681:c.*1690A>T NA NA NA NA 11q23.3 NA NA Name=12 NA rs9640 0.16 0.16 0.17 0.13778 0.1571 0.0407 0.098 0.2731 0.0634 0.16 0.05 0.13 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033096 NA NA NA NA NA 0.203 NA 5.1762334 1134 3 86062457 86062457 C T intronic CADM2 NA NA NA ncRNA_exonic ENSG00000243915 NA NA NA Score=692;Name=lod=869 NA 3p12.1 NA NA NA NA rs6771277 0.17 0.17 0.159 0.192292 0.1571 0.2083 0.1614 0.1725 0.2607 0.15 0.21 0.16 0.17 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654902 NA NA NA NA NA 0.217 NA 5.1762333 1134 9 33968454 33968454 G A intronic UBAP2 NA NA NA ncRNA_exonic ENSG00000226801 NA NA NA Score=697;Name=lod=911 NA 9p13.3 NA NA NA NA rs307671 0.2 0.2 0.199 0.220048 0.1571 0.1637 0.1758 0.2504 0.3333 0.17 0.2 0.18 0.26 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324416 NA NA NA NA NA 0.232 NA 5.1762333 1134 12 52841765 52841765 G A exonic KRT6B NA synonymous SNV KRT6B:NM_005555:exon7:c.C1221T:p.A407A exonic ENSG00000185479 NA synonymous SNV ENSG00000185479:ENST00000252252:exon7:c.C1221T:p.A407A Score=550;Name=lod=230 NA 12q13.13 NA NA NA NA rs388626 0.58 0.58 0.558 0.517572 0.505 0.6825 0.572 0.4781 0.3753 0.5 0.77 0.56 0.49 0.4939 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374247 NA NA 0.491628 0.448933 NA 0.616 NA 5.1761386 1134 13 111591283 111591283 T C intergenic ANKRD10,ARHGEF7 dist=23867;dist=176341 NA NA ncRNA_exonic ENSG00000227105 NA NA NA Score=682;Name=lod=785 NA 13q34 NA Name=CTCF,Rad21 NA NA rs7334633 0.76 0.76 0.725 0.729433 0.8241 0.9256 0.7911 0.4349 0.7843 0.82 0.93 0.79 0.45 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112134 NA NA NA NA NA 0.754 NA 5.1759 1134 14 92251587 92251587 A G exonic TC2N NA synonymous SNV TC2N:NM_001128595:exon11:c.T1281C:p.L427L,TC2N:NM_001128596:exon11:c.T1281C:p.L427L,TC2N:NM_152332:exon11:c.T1281C:p.L427L exonic ENSG00000165929 NA synonymous SNV ENSG00000165929:ENST00000556590:exon5:c.T537C:p.L179L,ENSG00000165929:ENST00000556018:exon10:c.T1089C:p.L363L,ENSG00000165929:ENST00000340892:exon11:c.T1281C:p.L427L,ENSG00000165929:ENST00000360594:exon11:c.T1281C:p.L427L,ENSG00000165929:ENST00000435962:exon11:c.T1281C:p.L427L NA NA 14q32.12 NA NA NA NA rs61990064 0.13 0.13 0.119 0.111222 0.173 0.1151 0.121 0.0582 0.1084 0.18 0.12 0.16 0.06 0.1509 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53871 NA NA 0.166977 0.069678 ID=COSM1178435,COSM1178434;OCCURENCE=1(prostate) 0.152 NA 5.1757896 1134 14 64909151 64909151 G A intronic MTHFD1 NA NA NA ncRNA_intronic ENSG00000258824 NA NA NA NA NA 14q23.3 NA Name=GATA-1 Name=7 NA rs2236224 0.31 0.31 0.287 0.308307 0.3648 0.2917 0.5101 0.087 0.4233 0.36 0.3 0.49 0.12 0.3856 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066346 NA NA 0.407326 0.13754 NA 0.341 NA 5.1756073 1134 10 86004736 86004736 A G upstream RGR NA NA NA upstream ENSG00000148604 NA NA NA NA NA 10q23.1 NA Name=HNF4A Name=15 NA rs2279228 0.59 0.59 0.593 0.6248 0.4911 0.495 0.5865 0.9486 0.4857 0.49 0.45 0.58 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162 NA NA NA NA NA 0.63 NA 5.1755666 1134 3 86063401 86063401 G A intronic CADM2 NA NA NA ncRNA_exonic ENSG00000243915 NA NA NA Score=597;Name=lod=355 NA 3p12.1 NA NA NA NA rs9810027 0.17 0.17 0.155 0.19389 0.1581 0.2083 0.1614 0.1778 0.2607 0.15 0.21 0.16 0.17 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255367 NA NA NA NA NA 0.225 NA 5.1752333 1134 3 158214530 158214530 G T intronic RSRC1 NA NA NA ncRNA_exonic ENSG00000243314 NA NA NA Score=433;Name=lod=77 NA 3q25.32 NA NA NA NA rs73020715 0.19 0.19 0.194 0.222244 0.1581 0.0903 0.2118 0.3971 0.1953 0.17 0.09 0.18 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370496 NA NA NA NA NA 0.283 NA 5.1752333 1134 15 25924539 25924539 T C exonic ATP10A NA synonymous SNV ATP10A:NM_024490:exon21:c.A4449G:p.Q1483Q exonic ENSG00000206190 NA synonymous SNV ENSG00000206190:ENST00000356865:exon21:c.A4449G:p.Q1483Q NA NA 15q12 NA NA NA NA rs1047700 0.27 0.27 0.258 0.266374 0.1382 0.2748 0.3386 0.4153 0.137 0.13 0.31 0.31 0.42 0.1977 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025745 NA NA 0.155698 0.370177 NA 0.225 NA 5.1750686 1135 11 47350287 47350287 G A intronic MADD NA NA NA intronic ENSG00000110514 NA NA NA NA NA 11p11.2 NA Name=EBF,PU.1 Name=9 NA rs2305280 0.4 0.4 0.399 0.424521 0.2495 0.6657 0.3026 0.4939 0.3487 0.25 0.62 0.33 0.44 0.3322 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104227 NA NA 0.243718 0.450023 ID=COSN163924;OCCURENCE=1(NS) 0.254 NA 5.174582 1135 10 95718600 95718600 T C ncRNA_exonic PIPSL NA NA NA ncRNA_exonic ENSG00000180764 NA NA NA Score=667;Name=lod=688 NA 10q23.33 NA NA NA NA rs11815169 0.24 0.24 0.216 0.25619 0.2425 0.2242 0.1542 0.3578 0.2382 0.23 0.22 0.18 0.33 0.2498 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2186 NA 0.28 NA NA NA 0.225 NA 5.1743666 1135 21 46097193 46097193 T C intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000229880 NA NA NA Score=512;Name=lod=160 NA 21q22.3 NA NA NA NA rs2838626 0.13 0.13 0.122 0.130791 0.159 0.0923 0.1484 0.0923 0.181 0.16 0.1 0.15 0.09 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.150324 NA NA NA NA NA 0.058 NA 5.1743333 1135 1 157485429 157485429 C G exonic FCRL5 NA nonsynonymous SNV FCRL5:NM_001195388:exon17:c.G2960C:p.C987S UTR3 ENSG00000143297 ENST00000361835:c.*36G>C,ENST00000356953:c.*36G>C NA NA NA NA 1q23.1 NA NA NA NA rs60516051 0.06 0.06 0.048 0.0597045 0.0676 0.001 0.0447 0.1407 0.0133 0.06 NA 0.06 0.1 0.0417 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422987 NA NA 0.049884 0.106673 NA 0.051 NA 5.1741494 1135 15 28517436 28517436 T C exonic HERC2 NA synonymous SNV HERC2:NM_004667:exon9:c.A1008G:p.P336P exonic ENSG00000128731 NA synonymous SNV ENSG00000128731:ENST00000261609:exon9:c.A1008G:p.P336P NA NA 15q13.1 NA NA NA NA rs75181529 NA NA 0.3 NA NA NA NA NA NA NA NA NA NA 0.4931 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10352 NA NA NA NA NA NA NA 5.1735666 1135 2 170115588 170115588 T C exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon17:c.A2460G:p.T820T exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000443831:exon15:c.A2049G:p.T683T,ENSG00000081479:ENST00000263816:exon17:c.A2460G:p.T820T NA NA 2q31.1 NA NA NA NA rs2241190 0.54 0.54 0.514 0.622404 0.4791 0.4841 0.6383 0.7141 0.7771 0.47 0.47 0.62 0.69 0.5464 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97567 NA NA 0.467674 0.689287 NA 0.638 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117518.2;CLNDSDB=.;CLNDSDBID=. 5.1734926 1135 11 47182926 47182926 G A UTR3 C11orf49 NM_001003676:c.*181G>A NA NA UTR3 ENSG00000149179 ENST00000395460:c.*181G>A NA NA NA NA 11p11.2 NA Name=Pol2(phosphoS2),CTCF NA NA rs3740694 0.1 0.1 0.097 0.132987 0.16 0.0694 0.0836 0.0144 0.3661 0.17 0.09 0.09 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8016 NA NA NA NA NA 0.043 NA 5.1733334 1135 12 133295501 133295501 T C UTR3 PGAM5 NM_138575:c.*105T>C NA NA UTR3 ENSG00000247077 ENST00000317555:c.*105T>C NA NA NA NA 12q24.33 NA Name=Pol2,Pol2(phosphoS2) NA NA rs11147015 0.27 0.27 0.214 0.256789 0.16 0.5298 0.2867 0.0946 0.273 0.17 0.54 0.3 0.11 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194452 NA NA NA NA NA 0.21 NA 5.1733334 1135 5 147016368 147016368 C T ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA Score=336;Name=lod=31 NA 5q32 NA NA NA NA rs2116768 0.29 0.29 0.266 0.313898 0.16 0.4732 0.3501 0.3094 0.2883 0.14 0.47 0.29 0.32 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177302 NA NA NA NA NA 0.283 NA 5.1733333 1135 6 134618545 134618545 C T intronic SGK1 NA NA NA ncRNA_exonic ENSG00000220378 NA NA NA Score=653;Name=lod=600 NA 6q23.2 NA NA NA NA rs9493887 0.22 0.22 0.176 0.190495 0.16 0.3194 0.2536 0.1346 0.1196 0.17 0.34 0.22 0.13 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051407 NA NA NA NA NA 0.13 NA 5.1733333 1135 16 81510071 81510071 G A intronic CMIP NA NA NA ncRNA_exonic ENSG00000260229 NA NA NA Score=541;Name=lod=210 NA 16q23.2 NA NA NA NA rs9925828 0.11 0.11 0.087 0.103235 0.16 0.0129 0.1225 0.0877 0.1452 0.16 0.01 0.13 0.11 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198027 NA NA NA NA NA 0.08 NA 5.1733333 1135 10 37505179 37505179 T C exonic ANKRD30A NA synonymous SNV ANKRD30A:NM_052997:exon32:c.T2772C:p.D924D exonic ENSG00000148513 NA synonymous SNV ENSG00000148513:ENST00000361713:exon32:c.T2772C:p.D924D,ENSG00000148513:ENST00000602533:exon32:c.T2772C:p.D924D,ENSG00000148513:ENST00000374660:exon38:c.T3129C:p.D1043D NA NA 10p11.21 NA NA NA NA rs57914746 0.17 0.17 0.177 0.158746 0.171 0.1161 0.1095 0.2837 0.0562 0.17 0.11 0.15 0.28 0.1481 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.711213 NA NA 0.174244 0.292656 NA 0.152 NA 5.1733226 1135 5 40746885 40746885 A T intronic TTC33 NA NA NA intronic ENSG00000113638 NA NA NA NA NA 5p13.1 NA Name=FOXA1_(C-20) Name=37 NA rs3805497 0.35 0.35 0.318 0.350439 0.2565 0.5526 0.2363 0.3457 0.3262 0.26 0.54 0.28 0.3 0.3223 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065234 NA NA 0.248081 0.323716 NA 0.246 NA 5.173119 1135 2 112702647 112702647 C T intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA Name=HNF4G_(SC-6558),FOXA1_(SC-101058),FOXA2_(SC-6554),p300,FOXA1_(C-20),HNF4A_(H-171),GATA3_(SC-268),SP1 Name=6 NA rs11683694 0.18 0.18 0.172 0.190695 0.2863 0.1726 0.1888 0.1036 0.2301 0.25 0.12 0.22 0.11 0.2395 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70203 NA NA 0.301279 0.145937 NA 0.21 NA 5.172921 1135 14 21960816 21960816 T C exonic TOX4 NA synonymous SNV TOX4:NM_014828:exon7:c.T1041C:p.L347L exonic ENSG00000092203 NA synonymous SNV ENSG00000092203:ENST00000448790:exon6:c.T972C:p.L324L,ENSG00000092203:ENST00000262709:exon7:c.T1041C:p.L347L,ENSG00000092203:ENST00000405508:exon8:c.T1041C:p.L347L Score=678;Name=lod=759 NA 14q11.2 NA NA NA NA rs1060722 0.5 0.5 0.498 0.495607 0.503 0.6488 0.3746 0.4281 0.5072 0.48 0.66 0.4 0.41 0.4887 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.784186 NA NA 0.502093 0.468906 NA 0.529 NA 5.1728736 1135 11 56468403 56468403 G A exonic OR9G1,OR9G9 NA synonymous SNV OR9G1:NM_001005213:exon1:c.G540A:p.L180L,OR9G9:NM_001013358:exon1:c.G540A:p.L180L exonic ENSG00000174914 NA synonymous SNV ENSG00000174914:ENST00000312153:exon1:c.G540A:p.L180L NA NA 11q12.1 NA NA NA NA rs11228734 0.49 0.49 NA NA NA NA NA NA NA 0.49 0.48 0.5 0.5 0.4939 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025311 NA NA NA NA NA 0.232 NA 5.1727666 1135 18 9887433 9887433 A G exonic TXNDC2 NA synonymous SNV TXNDC2:NM_001098529:exon2:c.A957G:p.E319E,TXNDC2:NM_032243:exon2:c.A756G:p.E252E exonic ENSG00000168454 NA synonymous SNV ENSG00000168454:ENST00000306084:exon2:c.A957G:p.E319E,ENSG00000168454:ENST00000357775:exon2:c.A756G:p.E252E NA NA 18p11.22 NA NA NA NA rs2240907 0.1 0.1 0.08 0.249002 0.2952 0.1508 0.1787 0.3472 0.2198 0.1 0.08 0.1 0.12 0.0085 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063796 NA NA 0.190393 0.195958 NA 0.007 NA 5.1725736 1135 2 208994045 208994045 T G ncRNA_intronic LOC100507443 NA NA NA intronic ENSG00000163254 NA NA NA NA Name=Attention deficit hyperactivity disorder 2q33.3 NA NA NA NA rs2242073 0.17 0.17 0.16 0.14976 0.161 0.0437 0.2233 0.2526 0.0562 0.17 0.06 0.21 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376197 NA NA NA NA NA 0.116 NA 5.1723333 1135 5 147019114 147019114 T C ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA NA NA 5q32 NA Name=p300,FOXA1_(SC-101058),TCF4,FOXA1_(C-20) NA NA rs10515588 0.29 0.29 0.278 0.311701 0.161 0.4702 0.3501 0.3086 0.2802 0.14 0.47 0.29 0.31 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507413 NA NA NA NA NA 0.275 NA 5.1723333 1135 10 100807804 100807804 G T intronic HPSE2 NA NA NA ncRNA_exonic ENSG00000234109 NA NA NA Score=706;Name=lod=983 NA 10q24.2 NA NA NA NA rs75197398 0.15 0.15 0.137 0.130791 0.161 0.1438 0.2378 0.0439 0.1278 0.16 0.15 0.23 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596238 NA NA NA NA NA 0.094 NA 5.1723333 1135 17 21319110 21319110 G A exonic KCNJ12,KCNJ18 NA synonymous SNV KCNJ18:NM_001194958:exon3:c.G456A:p.T152T,KCNJ12:NM_021012:exon3:c.G456A:p.T152T exonic ENSG00000184185 NA synonymous SNV ENSG00000184185:ENST00000331718:exon3:c.G456A:p.T152T,ENSG00000184185:ENST00000583088:exon3:c.G456A:p.T152T NA NA 17p11.2 NA NA NA NA rs77283567 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4944 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422832 NA NA NA NA NA 0.007 NA 5.1722666 1135 6 32797361 32797361 C T intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA Name=ZNF263 Name=3 NA rs241440 0.27 0.27 0.253 0.290335 0.2763 0.3621 0.2997 0.1263 0.4458 0.27 0.37 0.28 0.16 0.2888 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042247 NA NA 0.262674 0.152519 NA 0.174 NA 5.172226 1135 6 29913344 29913344 G T UTR3 HLA-A NM_001242758:c.*112G>T,NM_002116:c.*112G>T NA NA UTR3 ENSG00000206503 ENST00000396634:c.*112G>T,ENST00000376806:c.*112G>T,ENST00000376809:c.*112G>T,ENST00000376802:c.*112G>T NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs13395 0.24 0.24 0.258 0.215256 0.162 0.1845 0.1787 0.2912 0.2249 0.16 0.29 0.26 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13736 NA NA NA NA NA 0.094 NA 5.1713334 1135 14 35704667 35704667 C T intronic KIAA0391 NA NA NA ncRNA_exonic ENSG00000256243 NA NA NA Score=722;Name=lod=1144 NA 14q13.2 NA NA NA NA rs17113838 0.19 0.19 0.155 0.179912 0.162 0.3651 0.2017 0.0325 0.1912 0.16 0.36 0.18 0.05 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355374 NA NA NA NA NA 0.203 NA 5.1713333 1135 10 47133818 47133818 G A ncRNA_exonic HNRNPA1P33 NA NA NA ncRNA_exonic ENSG00000213412 NA NA NA Score=520;Name=lod=173 NA 10q11.22 NA NA NA NA rs4979737 NA NA NA 0.500399 0.496 0.501 0.4942 0.5076 0.499 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283915 NA NA NA NA NA 0.5 NA 5.1706666 1135 19 36640764 36640764 C T UTR3 CAPNS1 NM_001749:c.*23C>T,NM_001003962:c.*23C>T NA NA UTR3 ENSG00000126247 ENST00000246533:c.*23C>T,ENST00000589146:c.*23C>T,ENST00000587718:c.*37C>T,ENST00000590874:c.*23C>T,ENST00000588815:c.*23C>T,ENST00000588780:c.*23C>T,ENST00000586851:c.*23C>T NA NA NA NA 19q13.12 NA NA Name=2 NA rs1049339 0.02 0.02 0.009 0.01877 0.0567 NA 0.0331 0.0015 0.0123 0.05 NA 0.03 0.0041 0.0412 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.438373 1.438373 NA 0.064767 0.012256 NA 0.022 NA 5.1706664 1135 22 38477930 38477930 G A exonic SLC16A8 NA synonymous SNV SLC16A8:NM_013356:exon3:c.C324T:p.L108L exonic ENSG00000100156 NA synonymous SNV ENSG00000100156:ENST00000320521:exon3:c.C324T:p.L108L Score=619;Name=lod=438 NA 22q13.1 NA NA NA NA rs2235573 0.46 0.46 0.458 0.435304 0.493 0.4831 0.4524 0.4145 0.3425 0.49 0.5 0.42 0.4 0.5253 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.464029 1.464029 NA 0.477845 0.42098 ID=COSM444984;OCCURENCE=1(breast) 0.399 NA 5.1705216 1135 5 159377560 159377560 G A intronic ADRA1B NA NA NA ncRNA_exonic ENSG00000248626 NA NA NA Score=803;Name=lod=2455 NA 5q33.3 NA NA NA NA rs35591745 0.18 0.18 0.167 0.152157 0.163 0.3046 0.17 0.0129 0.1595 0.17 0.34 0.17 0.02 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546208 NA NA NA NA NA 0.138 NA 5.1703333 1135 2 224844919 224844919 C G intronic SERPINE2 NA NA NA intronic ENSG00000135919 NA NA NA NA NA 2q36.1 NA Name=USF2,USF-1 Name=45 NA rs729631 0.69 0.69 0.689 0.679712 0.83 0.4365 0.8213 0.7057 0.6401 0.84 0.45 0.78 0.69 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3198 NA NA NA NA NA 0.819 NA 5.17 1135 1 156281020 156281020 G C intronic CCT3 NA NA NA intronic ENSG00000163468 NA NA NA NA NA 1q22 NA Name=JunD,CEBPB Name=73 NA rs12132794 0.21 0.21 0.183 0.196685 0.2694 0.2262 0.2738 0.059 0.2229 0.27 0.23 0.23 0.06 0.2681 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469649 NA NA 0.292907 0.093509 NA 0.196 NA 5.169593 1135 12 24737061 24737061 G A ncRNA_exonic LINC00477 NA NA NA ncRNA_exonic ENSG00000197503,ENSG00000256852 NA NA NA NA NA 12p12.1 NA Name=PU.1,ELF1_(SC-631) NA NA rs7969489 0.33 0.33 0.345 0.387181 0.1501 0.7421 0.3804 0.3979 0.2556 0.12 0.68 0.31 0.27 0.2432 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723027 NA NA 0.103837 0.281207 NA NA NA 5.1695296 1135 12 4745193 4745193 T C intronic AKAP3 NA NA NA ncRNA_exonic ENSG00000256799 NA NA NA Score=635;Name=lod=509 NA 12p13.32 NA NA NA NA rs2267544 0.3 0.3 0.326 0.340655 0.164 0.4355 0.1772 0.4206 0.4325 0.16 0.46 0.2 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22858 NA NA NA NA NA 0.239 NA 5.1693333 1135 12 32879346 32879346 C A intronic DNM1L NA NA NA ncRNA_exonic ENSG00000257511 NA NA NA Score=772;Name=lod=1833 NA 12p11.21 NA NA NA NA rs10844324 0.14 0.14 0.139 0.14377 0.164 0.0823 0.1037 0.2103 0.1247 0.16 0.07 0.1 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040462 NA NA NA NA NA 0.101 NA 5.1693333 1135 6 111695268 111695268 C T exonic REV3L NA synonymous SNV REV3L:NM_002912:exon13:c.G4290A:p.V1430V exonic ENSG00000009413 NA synonymous SNV ENSG00000009413:ENST00000368802:exon13:c.G4290A:p.V1430V,ENSG00000009413:ENST00000358835:exon14:c.G4290A:p.V1430V,ENSG00000009413:ENST00000368805:exon14:c.G4290A:p.V1430V,ENSG00000009413:ENST00000435970:exon15:c.G4056A:p.V1352V Score=541;Name=lod=210 NA 6q21 NA NA NA NA rs455732 0.38 0.38 0.346 0.354034 0.496 0.4187 0.4337 0.0461 0.501 0.51 0.44 0.44 0.06 0.4703 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468473 NA NA 0.531403 0.127553 NA 0.464 NA 5.1689636 1135 20 26094605 26094605 G A ncRNA_exonic NCOR1P1 NA NA NA ncRNA_exonic ENSG00000240108 NA NA NA Score=565;Name=lod=263 NA 20p11.1 NA NA NA NA rs150462295 NA NA 0.288 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.4958 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517955 NA NA NA NA NA NA NA 5.1688666 1135 5 43587448 43587448 G T ncRNA_intronic LOC100652772 NA NA NA ncRNA_exonic ENSG00000249286 NA NA NA Score=748;Name=lod=1465 NA 5p12 NA NA NA NA rs7705166 0.39 0.39 0.392 0.38738 0.498 0.0913 0.379 0.5756 0.3303 0.47 0.1 0.43 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819206 NA NA NA NA NA 0.5 NA 5.1686666 1135 16 28856819 28856819 C T intronic TUFM NA NA NA intronic ENSG00000178952 NA NA NA NA NA 16p11.2 NA Name=Pol2,FOXA1_(SC-101058),HA-E2F1,FOXA1_(C-20),TBP Name=73 NA rs8061877 0.32 0.32 0.318 0.373203 0.2664 0.4514 0.2464 0.2466 0.6636 0.24 0.45 0.31 0.29 0.3086 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224649 NA NA 0.256395 0.227811 NA 0.341 NA 5.168605 1135 14 71061549 71061549 A G intronic MED6 NA NA NA ncRNA_exonic ENSG00000258951 NA NA NA Score=523;Name=lod=178 NA 14q24.2 NA NA NA NA rs7156661 0.34 0.34 0.359 0.352236 0.165 0.5258 0.183 0.5552 0.2117 0.16 0.52 0.17 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240767 NA NA NA NA NA 0.348 NA 5.1683333 1135 15 55653031 55653031 A G exonic CCPG1 NA synonymous SNV CCPG1:NM_001204450:exon8:c.T940C:p.L314L,CCPG1:NM_004748:exon8:c.T940C:p.L314L,CCPG1:NM_020739:exon8:c.T940C:p.L314L exonic ENSG00000260916 NA synonymous SNV ENSG00000260916:ENST00000310958:exon8:c.T940C:p.L314L,ENSG00000260916:ENST00000442196:exon8:c.T940C:p.L314L,ENSG00000260916:ENST00000569205:exon8:c.T940C:p.L314L Score=431;Name=lod=75 NA 15q21.3 NA NA NA NA rs501231 0.47 0.47 0.485 0.455471 0.5209 0.256 0.3329 0.6672 0.3947 0.52 0.3 0.36 0.67 0.4674 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.170275 2.170275 NA 0.51079 0.665292 ID=COSM147921;OCCURENCE=1(stomach) 0.348 NA 5.1675766 1135 6 111696852 111696852 T C exonic REV3L NA synonymous SNV REV3L:NM_002912:exon13:c.A2706G:p.G902G exonic ENSG00000009413 NA synonymous SNV ENSG00000009413:ENST00000368802:exon13:c.A2706G:p.G902G,ENSG00000009413:ENST00000358835:exon14:c.A2706G:p.G902G,ENSG00000009413:ENST00000368805:exon14:c.A2706G:p.G902G,ENSG00000009413:ENST00000435970:exon15:c.A2472G:p.G824G Score=557;Name=lod=245 NA 6q21 NA NA NA NA rs458486 0.38 0.38 0.36 0.354233 0.497 0.4187 0.4337 0.0461 0.501 0.51 0.44 0.44 0.06 0.471 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237859 NA NA 0.53117 0.12778 NA 0.471 NA 5.1674966 1135 17 21205460 21205460 C T exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon6:c.C318T:p.D106D,MAP2K3:NM_145109:exon6:c.C405T:p.D135D exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000342679:exon6:c.C405T:p.D135D,ENSG00000034152:ENST00000361818:exon6:c.C318T:p.D106D,ENSG00000034152:ENST00000496046:exon6:c.C405T:p.D135D,ENSG00000034152:ENST00000526076:exon6:c.C318T:p.D106D,ENSG00000034152:ENST00000316920:exon7:c.C318T:p.D106D NA NA 17p11.2 NA NA NA NA rs62057721 0.5 0.5 0.43 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4993 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.084238 NA NA NA NA NA 0.5 NA 5.1673666 1135 6 57467107 57467107 C T exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*7C>T NA NA Score=531;Name=lod=191 NA 6p11.2 NA NA NA NA rs9885751 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4994 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.621416 2.621416 0 NA NA ID=COSM150114;OCCURENCE=1(stomach) 0.442 NA 5.1672667 1135 12 24737062 24737062 C A ncRNA_exonic LINC00477 NA NA NA ncRNA_exonic ENSG00000197503,ENSG00000256852 NA NA NA NA NA 12p12.1 NA Name=PU.1,ELF1_(SC-631) NA NA rs7969292 0.33 0.33 0.351 0.388978 0.1501 0.748 0.3833 0.3986 0.2556 0.12 0.68 0.31 0.27 0.2432 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243258 NA NA 0.106395 0.286882 NA NA NA 5.1669716 1135 1 48697751 48697751 C T exonic SLC5A9 NA synonymous SNV SLC5A9:NM_001011547:exon7:c.C825T:p.S275S,SLC5A9:NM_001135181:exon8:c.C900T:p.S300S exonic ENSG00000117834 NA synonymous SNV ENSG00000117834:ENST00000438567:exon7:c.C825T:p.S275S,ENSG00000117834:ENST00000236495:exon8:c.C900T:p.S300S,ENSG00000117834:ENST00000533824:exon8:c.C888T:p.S296S NA NA 1p33 NA NA NA NA rs61997212 0.09 0.09 0.087 0.0658946 0.17 NA 0.0879 0.0174 0.0767 0.18 NA 0.11 0.03 0.1345 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.070687 NA NA 0.195233 0.036995 NA 0.094 NA 5.1669336 1135 11 56468259 56468259 C T exonic OR9G1,OR9G9 NA synonymous SNV OR9G1:NM_001005213:exon1:c.C396T:p.A132A,OR9G9:NM_001013358:exon1:c.C396T:p.A132A exonic ENSG00000174914 NA synonymous SNV ENSG00000174914:ENST00000312153:exon1:c.C396T:p.A132A NA NA 11q12.1 NA NA NA NA rs503776 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.113358 NA NA NA NA NA 0.5 NA 5.1668666 1135 14 77978621 77978621 A C UTR3 SPTLC2 NM_004863:c.*6T>G NA NA UTR3 ENSG00000100596 ENST00000216484:c.*6T>G NA NA Score=501;Name=lod=145 NA 14q24.3 NA NA NA NA rs73319080 0.05 0.05 0.044 0.0547125 0.0606 0.001 0.0418 0.1059 0.044 0.06 NA 0.05 0.09 0.0515 0.097 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.128858 2.128858 NA 0.054419 0.096686 NA 0.051 NA 5.1668144 1135 11 48346729 48346729 G C exonic OR4C3 NA synonymous SNV OR4C3:NM_001004702:exon1:c.G237C:p.T79T exonic ENSG00000176547 NA synonymous SNV ENSG00000176547:ENST00000319856:exon1:c.G237C:p.T79T NA NA 11p11.2 NA NA NA NA rs73463990 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.411814 NA NA NA NA NA 0.5 NA 5.1667666 1135 17 21204257 21204257 G A exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon5:c.G264A:p.T88T,MAP2K3:NM_145109:exon5:c.G351A:p.T117T exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000342679:exon5:c.G351A:p.T117T,ENSG00000034152:ENST00000361818:exon5:c.G264A:p.T88T,ENSG00000034152:ENST00000496046:exon5:c.G351A:p.T117T,ENSG00000034152:ENST00000526076:exon5:c.G264A:p.T88T,ENSG00000034152:ENST00000316920:exon6:c.G264A:p.T88T NA NA 17p11.2 NA NA NA NA rs56166328 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.266645 1.266645 NA NA NA ID=COSM298238;OCCURENCE=1(large_intestine) 0.428 NA 5.1667666 1135 10 46998795 46998795 A G intronic GPRIN2 NA NA NA UTR5 ENSG00000204175 ENST00000374314:c.-86A>G NA NA NA NA 10q11.22 NA Name=MafK_(ab50322) NA NA rs3127677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036725 NA NA NA NA NA 0.5 NA 5.1666667 1135 12 133237454 133237454 T C intronic POLE NA NA NA UTR5 ENSG00000177084 ENST00000536445:c.-1368A>G NA NA NA NA 12q24.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148331 NA NA NA NA NA NA NA 5.1666667 1135 1 144874760 144874760 T C exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001198834:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_014644:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_001198832:exon33:c.A4716G:p.E1572E exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000369354:exon30:c.A4848G:p.E1616E,ENSG00000178104:ENST00000369356:exon30:c.A4848G:p.E1616E,ENSG00000178104:ENST00000313382:exon33:c.A4716G:p.E1572E,ENSG00000178104:ENST00000369359:exon33:c.A5256G:p.E1752E,ENSG00000178104:ENST00000530740:exon33:c.A5256G:p.E1752E NA NA 1q21.1 NA NA NA NA rs1610774 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088785 NA NA NA NA NA 0.5 NA 5.1666666 1135 11 48346843 48346843 C T exonic OR4C3 NA synonymous SNV OR4C3:NM_001004702:exon1:c.C351T:p.I117I exonic ENSG00000176547 NA synonymous SNV ENSG00000176547:ENST00000319856:exon1:c.C351T:p.I117I NA NA 11p11.2 NA NA NA NA rs73463998 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25367 NA NA NA NA NA 0.391 NA 5.1666666 1135 11 48347023 48347023 C T exonic OR4C3 NA synonymous SNV OR4C3:NM_001004702:exon1:c.C531T:p.G177G exonic ENSG00000176547 NA synonymous SNV ENSG00000176547:ENST00000319856:exon1:c.C531T:p.G177G NA NA 11p11.2 NA NA NA NA rs67077733 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711203 NA NA NA NA NA 0.486 NA 5.1666666 1135 6 57512678 57512678 G A exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*465G>A NA NA Score=329;Name=lod=29 NA 6p11.2 NA NA NA NA rs4398719 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5002 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348618 NA NA NA NA NA 0.493 NA 5.1664667 1135 3 125856695 125856695 C A exonic ALDH1L1 NA synonymous SNV ALDH1L1:NM_001270365:exon8:c.G882T:p.L294L,ALDH1L1:NM_001270364:exon10:c.G1215T:p.L405L,ALDH1L1:NM_012190:exon10:c.G1185T:p.L395L exonic ENSG00000144908 NA synonymous SNV ENSG00000144908:ENST00000452905:exon8:c.G882T:p.L294L,ENSG00000144908:ENST00000273450:exon10:c.G1215T:p.L405L,ENSG00000144908:ENST00000393431:exon10:c.G1185T:p.L395L,ENSG00000144908:ENST00000393434:exon10:c.G1185T:p.L395L,ENSG00000144908:ENST00000472186:exon10:c.G1185T:p.L395L NA NA 3q21.3 NA NA NA NA rs2305230 0.25 0.25 0.243 0.244808 0.166 0.2321 0.1945 0.4418 0.1084 0.17 0.23 0.22 0.4 0.1687 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.099033 NA NA 0.165581 0.386972 NA 0.188 NA 5.1663856 1135 1 159402219 159402219 G A intergenic OR10J3,OR10J1 dist=117770;dist=7293 NA NA exonic ENSG00000249730 NA unknown UNKNOWN NA NA 1q23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98348 NA 0.02 NA NA NA NA NA 5.1663667 1135 6 57512476 57512476 G A exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*263G>A NA NA Score=516;Name=lod=166 NA 6p11.2 NA NA NA NA rs4307164 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5003 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.663232 2.663232 0.91 NA NA NA 0.362 NA 5.1663667 1135 19 4511830 4511830 A G exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon3:c.T2100C:p.T700T exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon3:c.T2100C:p.T700T NA NA 19p13.3 NA NA NA NA rs7257142 0.46 0.46 NA NA NA NA NA NA NA 0.46 0.46 0.43 0.47 0.5003 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179668 NA NA NA NA NA 0.094 NA 5.1663666 1135 20 26094564 26094564 T G ncRNA_exonic NCOR1P1 NA NA NA ncRNA_exonic ENSG00000240108 NA NA NA Score=565;Name=lod=263 NA 20p11.1 NA NA NA NA rs79802274 NA NA 0.381 NA NA NA NA NA NA NA NA NA NA 0.5003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191791 NA 0.65 NA NA NA NA NA 5.1663666 1135 19 19387356 19387356 C T UTR3 SUGP1 NM_172231:c.*101G>A NA NA UTR3 ENSG00000105705 ENST00000589144:c.*1444G>A,ENST00000588731:c.*1566G>A,ENST00000247001:c.*101G>A,ENST00000587119:c.*1741G>A NA NA NA NA 19p13.11 NA NA Name=52 NA rs2010506 0.13 0.13 0.146 0.116414 0.167 NA 0.1153 0.177 0.1033 0.15 NA 0.14 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.046226 2.046226 NA NA NA NA 0.21 NA 5.1663334 1135 9 18718086 18718086 G T intronic ADAMTSL1 NA NA NA ncRNA_exonic ENSG00000236857 NA NA NA Score=749;Name=lod=1470 NA 9p22.1 NA NA NA NA rs4977338 0.23 0.23 0.21 0.209265 0.167 0.3423 0.2651 0.1324 0.18 0.17 0.35 0.22 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042338 NA NA NA NA NA 0.188 NA 5.1663333 1135 20 42281914 42281914 A G intergenic IFT52,MYBL2 dist=6052;dist=13795 NA NA ncRNA_exonic ENSG00000215467 NA NA NA Score=645;Name=lod=560 NA 20q13.12 NA Name=TCF4,RXRA,Sin3Ak-20 NA NA rs285195 0.85 0.85 0.859 0.872604 0.834 0.8145 0.8271 0.9803 0.8589 0.83 0.79 0.84 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177289 NA NA NA NA NA 0.855 NA 5.166 1135 10 76855421 76855421 G A exonic DUSP13 NA synonymous SNV DUSP13:NM_001007272:exon3:c.C456T:p.I152I,DUSP13:NM_016364:exon3:c.C306T:p.I102I,DUSP13:NM_001007273:exon5:c.C585T:p.I195I exonic ENSG00000079393 NA synonymous SNV ENSG00000079393:ENST00000372700:exon3:c.C456T:p.I152I,ENSG00000079393:ENST00000472493:exon3:c.C306T:p.I102I,ENSG00000079393:ENST00000478873:exon3:c.C714T:p.I238I,ENSG00000079393:ENST00000605915:exon4:c.C372T:p.I124I,ENSG00000079393:ENST00000607131:exon5:c.C585T:p.I195I,ENSG00000079393:ENST00000491677:exon7:c.C693T:p.I231I NA NA 10q22.2 NA NA NA NA rs3740316 0.23 0.23 0.225 0.213259 0.166 0.2649 0.2406 0.233 0.1626 0.15 0.29 0.26 0.25 0.1775 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88966 NA NA 0.157326 0.216069 NA 0.21 NA 5.1658406 1135 1 1647871 1647871 T C exonic CDK11A,CDK11B NA synonymous SNV CDK11A:NM_024011:exon5:c.A402G:p.R134R,CDK11B:NM_033486:exon5:c.A402G:p.R134R,CDK11B:NM_033492:exon5:c.A369G:p.R123R,CDK11B:NM_033493:exon5:c.A369G:p.R123R,CDK11A:NM_033529:exon5:c.A372G:p.R124R,CDK11B:NM_033488:exon6:c.A267G:p.R89R,CDK11B:NM_033489:exon6:c.A300G:p.R100R exonic ENSG00000008128 NA synonymous SNV ENSG00000008128:ENST00000356200:exon4:c.A300G:p.R100R,ENSG00000008128:ENST00000509982:exon4:c.A402G:p.R134R,ENSG00000008128:ENST00000357760:exon5:c.A372G:p.R124R,ENSG00000008128:ENST00000358779:exon5:c.A372G:p.R124R,ENSG00000008128:ENST00000378633:exon5:c.A372G:p.R124R,ENSG00000008128:ENST00000378635:exon5:c.A372G:p.R124R,ENSG00000008128:ENST00000378638:exon5:c.A300G:p.R100R,ENSG00000008128:ENST00000404249:exon5:c.A402G:p.R134R,ENSG00000008128:ENST00000460465:exon5:c.A402G:p.R134R,ENSG00000008128:ENST00000479362:exon5:c.A372G:p.R124R NA NA 1p36.33 NA NA NA NA rs72909014 0.5 0.5 0.33 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.501 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029871 NA NA NA NA NA NA NA 5.1656666 1135 14 94464432 94464432 A G ncRNA_exonic LINC00521 NA NA NA ncRNA_exonic ENSG00000175699 NA NA NA NA NA 14q32.12 NA NA Name=3 NA rs733166 0.75 0.75 0.711 0.753195 0.501 0.9812 0.6787 0.8933 0.6411 0.52 0.98 0.68 0.87 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791982 NA NA NA NA NA 0.667 NA 5.1656666 1135 20 26094567 26094567 T C ncRNA_exonic NCOR1P1 NA NA NA ncRNA_exonic ENSG00000240108 NA NA NA Score=565;Name=lod=263 NA 20p11.1 NA NA NA NA rs62211581 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA 0.5012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699613 NA 1 NA NA NA NA NA 5.1654666 1135 1 100858699 100858699 T C intronic CDC14A NA NA NA ncRNA_exonic ENSG00000234332 NA NA NA Score=645;Name=lod=558 NA 1p21.2 NA NA NA NA rs7513335 0.21 0.21 0.222 0.205671 0.168 0.0496 0.1081 0.4932 0.0859 0.17 0.06 0.13 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483243 NA NA NA NA ID=COSN163169;OCCURENCE=1(NS) 0.21 NA 5.1653333 1135 2 170517591 170517591 G A intronic CCDC173 NA NA NA ncRNA_exonic ENSG00000226072 NA NA NA Score=619;Name=lod=438 NA 2q31.1 NA NA NA NA rs28427447 0.08 0.08 0.086 0.077476 0.168 0.0248 0.0807 0.0257 0.1063 0.15 0.02 0.09 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.621404 NA NA NA NA NA 0.101 NA 5.1653333 1135 7 71568250 71568250 T C intronic CALN1 NA NA NA ncRNA_exonic ENSG00000228769 NA NA NA Score=631;Name=lod=490 NA 7q11.22 NA NA NA NA rs10254309 0.35 0.35 0.344 0.372604 0.168 0.7103 0.3069 0.2156 0.4939 0.17 0.74 0.26 0.23 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596939 NA NA NA NA NA 0.283 NA 5.1653333 1135 13 29881069 29881069 C A intronic MTUS2 NA NA NA ncRNA_exonic ENSG00000223460 NA NA NA Score=585;Name=lod=318 NA 13q12.3 NA NA NA NA rs2989383 0.1 0.1 0.096 0.0932508 0.168 0.003 0.0807 0.1551 0.0348 0.17 NA 0.09 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.372917 NA NA NA NA NA 0.123 NA 5.1653333 1135 21 46122331 46122331 A C intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000236382 NA NA NA Score=381;Name=lod=47 NA 21q22.3 NA NA NA NA rs12483477 0.17 0.17 0.13 0.171526 0.168 0.2659 0.1441 0.0401 0.2751 0.17 0.27 0.18 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74431 NA NA NA NA NA 0.123 NA 5.1653333 1136 10 46999747 46999747 T C exonic GPRIN2 NA synonymous SNV GPRIN2:NM_014696:exon3:c.T867C:p.H289H exonic ENSG00000204175 NA synonymous SNV ENSG00000204175:ENST00000374314:exon1:c.T867C:p.H289H,ENSG00000204175:ENST00000374317:exon3:c.T867C:p.H289H NA NA 10q11.22 NA NA NA NA rs3127821 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5017 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073817 NA NA NA NA NA 0.5 NA 5.1649666 1136 3 119747919 119747919 T C intronic GSK3B NA NA NA ncRNA_exonic ENSG00000239835 NA NA NA Score=561;Name=lod=253 NA 3q13.33 NA NA NA NA rs62264749 0.29 0.29 0.264 0.308706 0.169 0.4712 0.1772 0.3684 0.2975 0.17 0.48 0.19 0.33 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800965 NA NA NA NA NA 0.225 NA 5.1643333 1136 2 231110582 231110582 C T exonic SP140 NA synonymous SNV SP140:NM_007237:exon7:c.C669T:p.S223S exonic ENSG00000079263 NA synonymous SNV ENSG00000079263:ENST00000350136:exon7:c.C609T:p.S203S,ENSG00000079263:ENST00000392045:exon7:c.C669T:p.S223S,ENSG00000079263:ENST00000417495:exon7:c.C660T:p.S220S,ENSG00000079263:ENST00000420434:exon7:c.C669T:p.S223S NA NA 2q37.1 NA NA NA NA rs28445040 0.12 0.12 0.116 0.109026 0.168 0.001 0.1124 0.1142 0.1503 0.18 NA 0.14 0.14 0.151 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542336 NA NA 0.183607 0.109115 NA 0.116 NA 5.1640596 1136 1 24421875 24421875 C T intronic MYOM3 NA NA NA intronic ENSG00000142661 NA NA NA NA NA 1p36.11 NA Name=SRF Name=2 NA rs11249143 0.32 0.32 0.294 0.265775 0.4354 0.3413 0.2291 0.1558 0.1881 0.46 0.31 0.25 0.16 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004221 NA NA 0.400691 0.180636 NA 0.181 NA 5.163909 1136 15 78213975 78213975 T A ncRNA_intronic LOC645752 NA NA NA ncRNA_intronic ENSG00000260776,ENSG00000261244 NA NA NA Score=451;Name=lod=91 NA 15q24.3 NA NA NA NA rs4886970 0.39 0.39 0.367 0.345647 0.503 0.1617 0.3098 0.4486 0.2597 0.5 0.19 0.36 0.49 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.214819 NA NA NA NA NA 0.319 NA 5.1636666 1136 22 24001975 24001975 A T ncRNA_intronic GUSBP11 NA NA NA ncRNA_exonic ENSG00000228315 NA NA NA Score=555;Name=lod=240 NA 22q11.23 NA NA NA NA rs5751704 0.52 0.52 0.505 0.526158 0.503 0.6081 0.6023 0.3782 0.6115 0.53 0.62 0.55 0.38 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005141 NA NA NA NA NA 0.536 NA 5.1636666 1136 16 85015541 85015541 G A exonic ZDHHC7 NA synonymous SNV ZDHHC7:NM_017740:exon4:c.C375T:p.P125P,ZDHHC7:NM_001145548:exon5:c.C486T:p.P162P exonic ENSG00000153786 NA synonymous SNV ENSG00000153786:ENST00000566909:exon1:c.C24T:p.P8P,ENSG00000153786:ENST00000313732:exon4:c.C375T:p.P125P,ENSG00000153786:ENST00000344861:exon5:c.C486T:p.P162P,ENSG00000153786:ENST00000564466:exon5:c.C486T:p.P162P NA NA 16q24.1 NA NA NA NA rs16975086 0.14 0.14 0.111 0.133387 0.1571 0.1508 0.304 0.0083 0.1391 0.15 0.15 0.27 0.01 0.1753 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954971 NA NA 0.17093 0.037744 NA 0.159 NA 5.1633366 1136 12 19609879 19609879 C A intronic AEBP2 NA NA NA ncRNA_exonic ENSG00000245205 NA NA NA Score=785;Name=lod=2070 NA 12p12.3 NA NA NA NA rs12822904 0.09 0.09 0.085 0.0864617 0.17 0.0169 0.1037 0.0287 0.138 0.17 0.02 0.13 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861705 NA NA NA NA NA 0.065 NA 5.1633333 1136 2 132274474 132274474 G A ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA NA NA 2q21.1 NA Name=CTCF NA NA rs13010688 0.34 0.34 0.32 0.334265 0.2197 0.6796 0.4265 0.1339 0.3016 0.21 0.65 0.38 0.13 0.2838 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.794759 NA NA NA NA NA 0.29 NA 5.1631666 1136 18 47402280 47402280 A C intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA Name=GATA-2 Name=2 NA rs657424 0.88 0.88 0.88 0.883786 0.837 0.9583 0.8905 0.8313 0.9213 0.84 0.96 0.89 0.84 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335605 NA NA NA NA NA 0.812 NA 5.163 1136 9 133761001 133761001 A G exonic ABL1 NA synonymous SNV ABL1:NM_005157:exon11:c.A3324G:p.P1108P,ABL1:NM_007313:exon11:c.A3381G:p.P1127P exonic ENSG00000097007 NA synonymous SNV ENSG00000097007:ENST00000318560:exon11:c.A3324G:p.P1108P,ENSG00000097007:ENST00000372348:exon11:c.A3381G:p.P1127P NA NA 9q34.12 NA Name=RFX5_(N-494) NA NA rs1056171 0.62 0.62 0.603 0.654153 0.4881 0.5952 0.6974 0.882 0.547 0.48 0.59 0.63 0.88 0.549 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736939 NA NA 0.46686 0.815252 NA 0.493 NA 5.1627066 1136 10 47133816 47133816 T A ncRNA_exonic HNRNPA1P33 NA NA NA ncRNA_exonic ENSG00000213412 NA NA NA Score=520;Name=lod=173 NA 10q11.22 NA NA NA NA rs4307655 NA NA NA 0.449481 0.504 0.494 0.4885 0.3154 0.501 NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252683 1.252683 NA NA NA NA 0.457 NA 5.1626666 1136 5 147486677 147486677 C A exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon17:c.C1557A:p.G519G,SPINK5:NM_001127699:exon17:c.C1557A:p.G519G,SPINK5:NM_006846:exon17:c.C1557A:p.G519G exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon17:c.C1557A:p.G519G,ENSG00000133710:ENST00000359874:exon17:c.C1557A:p.G519G,ENSG00000133710:ENST00000398454:exon17:c.C1557A:p.G519G,ENSG00000133710:ENST00000508733:exon17:c.C1500A:p.G500G Score=476;Name=lod=115 NA 5q32 NA NA NA NA rs880687 0.43 0.43 0.385 0.429313 0.4871 0.4841 0.6167 0.1861 0.5092 0.46 0.46 0.59 0.21 0.5061 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883922 NA NA 0.511108 0.237778 ID=COSM149972;OCCURENCE=1(stomach) 0.362 NA 5.1623586 1136 1 152280759 152280759 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T6603C:p.D2201D exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T6603C:p.D2201D NA NA 1q21.3 NA NA NA NA rs2338554 0.28 0.28 0.256 0.367212 0.1531 0.4454 0.3501 0.472 0.3773 0.12 0.38 0.26 0.42 0.2416 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457459 NA NA 0.109884 0.387199 NA 0.181 NA 5.1620826 1136 19 40325254 40325254 G A intronic FBL NA NA NA UTR3 ENSG00000105202 ENST00000595545:c.*50C>T NA NA NA NA 19q13.2 NA Name=ZNF263 NA NA rs111685762 0.01 0.01 0.008 0.00858626 0.001 NA 0.0043 0.0295 NA 0.0013 NA NA 0.03 0.0032 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828338 NA NA 0.00065 0.029766 NA 0.014 NA 5.1618167 1136 5 43297144 43297144 A G exonic HMGCS1 NA synonymous SNV HMGCS1:NM_002130:exon4:c.T699C:p.Y233Y,HMGCS1:NM_001098272:exon5:c.T699C:p.Y233Y exonic ENSG00000112972 NA synonymous SNV ENSG00000112972:ENST00000433297:exon4:c.T699C:p.Y233Y,ENSG00000112972:ENST00000325110:exon5:c.T699C:p.Y233Y Score=597;Name=lod=357 NA 5p12 NA NA NA NA rs3733769 0.37 0.37 0.337 0.354034 0.5308 0.125 0.4582 0.3124 0.3906 0.51 0.16 0.48 0.32 0.4538 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177682 NA NA 0.520698 0.342034 NA 0.42 NA 5.1613686 1136 11 4141132 4141132 C A exonic RRM1 NA synonymous SNV RRM1:NM_001033:exon9:c.C850A:p.R284R exonic ENSG00000167325 NA synonymous SNV ENSG00000167325:ENST00000533495:exon3:c.C184A:p.R62R,ENSG00000167325:ENST00000534285:exon3:c.C184A:p.R62R,ENSG00000167325:ENST00000423050:exon8:c.C559A:p.R187R,ENSG00000167325:ENST00000300738:exon9:c.C850A:p.R284R Score=582;Name=lod=308 NA 11p15.4 NA NA NA NA rs183484 0.38 0.38 0.356 0.323083 0.5229 0.378 0.4366 0.0227 0.3865 0.52 0.42 0.48 0.04 0.4489 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.600614 1.600614 NA 0.533504 0.105407 NA 0.341 NA 5.1613626 1136 1 26646726 26646726 A G exonic CD52 NA nonsynonymous SNV CD52:NM_001803:exon2:c.A119G:p.N40S exonic ENSG00000169442 NA nonsynonymous SNV ENSG00000169442:ENST00000374213:exon2:c.A119G:p.N40S NA NA 1p36.11 NA NA NA NA rs1071849 0.62 0.62 0.627 0.580671 0.7356 0.4415 0.5807 0.6301 0.498 0.72 0.46 0.62 0.64 0.6711 0.77 0.53 T 0.009 B 0.007 B 0.493 N 1.000 P . . 1.72 T -1.013 T 0.000 T 0.02 1.509 10.99 -1.87 -0.296 0.157 4.278 1.508807 1.508807 NA 0.765465 0.666818 ID=COSM1180632;OCCURENCE=1(upper_aerodigestive_tract) 0.652 NA 5.1611684 1136 7 99917416 99917416 G A exonic SPDYE3 NA synonymous SNV SPDYE3:NM_001004351:exon9:c.G1575A:p.P525P exonic ENSG00000214300 NA synonymous SNV ENSG00000214300:ENST00000332397:exon9:c.G1575A:p.P525P,ENSG00000214300:ENST00000437326:exon9:c.G444A:p.P148P NA NA 7q22.1 NA NA NA NA rs112622797 0.08 0.08 0.062 0.0776757 0.174 0.0278 0.0879 0.0136 0.1094 0.18 0.02 0.08 0.02 0.1414 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589901 NA NA 0.190161 0.041761 NA 0.029 NA 5.1611056 1136 5 147481430 147481430 A G exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon15:c.A1389G:p.G463G,SPINK5:NM_001127699:exon15:c.A1389G:p.G463G,SPINK5:NM_006846:exon15:c.A1389G:p.G463G exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon15:c.A1389G:p.G463G,ENSG00000133710:ENST00000359874:exon15:c.A1389G:p.G463G,ENSG00000133710:ENST00000398454:exon15:c.A1389G:p.G463G,ENSG00000133710:ENST00000508733:exon15:c.A1332G:p.G444G Score=450;Name=lod=90 NA 5q32 NA NA NA NA rs6896303 0.43 0.43 0.369 0.432907 0.4861 0.4851 0.6167 0.1989 0.5102 0.46 0.46 0.59 0.23 0.5076 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5686 NA NA 0.512385 0.252643 ID=COSM149971;OCCURENCE=1(stomach) 0.362 NA 5.1605816 1136 17 39642561 39642561 T A UTR3 KRT36 NM_003771:c.*67A>T NA NA UTR3 ENSG00000126337 ENST00000393986:c.*67A>T,ENST00000328119:c.*67A>T NA NA NA NA 17q21.2 Score=795;Name=V$MEIS1AHOXA9_01 NA NA NA rs2071602 0.17 0.17 0.149 0.170727 0.173 0.2966 0.1196 0.0635 0.2198 0.18 0.29 0.14 0.07 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.257626 1.257626 NA NA NA NA 0.109 NA 5.1603334 1136 18 13826837 13826837 A C UTR3 MC5R NM_005913:c.*95A>C NA NA UTR3 ENSG00000176136 ENST00000324750:c.*95A>C NA NA NA NA 18p11.21 NA NA Name=3 NA rs11080686 0.27 0.27 0.247 0.263778 0.173 0.3433 0.3573 0.3086 0.1483 0.17 0.37 0.3 0.28 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062458 NA NA NA NA NA 0.196 NA 5.1603334 1136 6 41773576 41773576 G C exonic USP49 NA synonymous SNV USP49:NM_018561:exon4:c.C1146G:p.L382L exonic ENSG00000164663 NA synonymous SNV ENSG00000164663:ENST00000373009:exon1:c.C1146G:p.L382L,ENSG00000164663:ENST00000297229:exon2:c.C1146G:p.L382L,ENSG00000164663:ENST00000394253:exon3:c.C1146G:p.L382L,ENSG00000164663:ENST00000373006:exon4:c.C1146G:p.L382L,ENSG00000164663:ENST00000373010:exon6:c.C1146G:p.L382L Score=498;Name=lod=141 NA 6p21.1 NA NA NA NA rs2185798 0.54 0.54 0.524 0.549121 0.4911 0.5407 0.6801 0.5174 0.5675 0.49 0.56 0.65 0.5 0.534 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453956 NA NA 0.481512 0.529278 NA 0.5 NA 5.1600546 1136 21 43342046 43342046 G A intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA Name=STAT3 Name=5 NA rs3746909 0.23 0.23 0.216 0.221046 0.2863 0.1538 0.2248 0.2095 0.2362 0.28 0.16 0.25 0.22 0.2717 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561867 NA NA 0.281977 0.233318 NA 0.312 NA 5.160023 1136 10 30663368 30663368 T C intergenic MTPAP,MAP3K8 dist=25101;dist=59582 NA NA upstream ENSG00000241621 NA NA NA NA NA 10p11.23 NA Name=Pol2-4H8,USF-1,IRF1,TBP,Pol2,TAF1,CEBPB Name=29 NA rs2297039 0.46 0.46 0.457 0.446286 0.34 0.6329 0.4251 0.5219 0.2761 0.33 0.6 0.43 0.54 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132221 NA NA NA NA NA 0.449 NA 5.16 1136 10 27035478 27035478 C T UTR3 PDSS1 NM_014317:c.*76C>T NA NA UTR3 ENSG00000148459 ENST00000376215:c.*76C>T,ENST00000376203:c.*212C>T NA NA Score=472;Name=lod=111 NA 10p12.1 NA NA NA NA rs12776877 0.1 0.1 0.074 0.0898562 0.174 0.0327 0.245 0.0091 0.0613 0.17 0.04 0.19 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.486372 4.486372 NA NA NA NA 0.13 NA 5.1593334 1136 6 167115448 167115448 C T intronic RPS6KA2 NA NA NA ncRNA_exonic ENSG00000235008 NA NA NA Score=726;Name=lod=1195 NA 6q27 NA NA NA NA rs66759203 0.16 0.16 0.147 0.145767 0.174 0.1141 0.2003 0.1467 0.1094 0.17 0.13 0.22 0.14 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056722 NA NA NA NA NA 0.145 NA 5.1593333 1136 14 100847707 100847707 A G exonic WDR25 NA nonsynonymous SNV WDR25:NM_001161476:exon2:c.A446G:p.H149R,WDR25:NM_024515:exon2:c.A446G:p.H149R exonic ENSG00000176473 NA nonsynonymous SNV ENSG00000176473:ENST00000557710:exon1:c.A446G:p.H149R,ENSG00000176473:ENST00000335290:exon2:c.A446G:p.H149R,ENSG00000176473:ENST00000402312:exon2:c.A446G:p.H149R,ENSG00000176473:ENST00000554175:exon2:c.A446G:p.H149R,ENSG00000176473:ENST00000554998:exon2:c.A446G:p.H149R NA NA 14q32.2 NA NA NA NA rs2273800 0.59 0.59 0.591 0.646965 0.7266 0.4742 0.4597 0.6596 0.8589 0.73 0.41 0.48 0.68 0.6968 0.75 0.54 T 0.0 B 0.0 B 0.017 N 1.000 P -0.345 N 2.32 T -0.967 T 0.000 T 0.031 0.32 5.735 -1.17 -0.751 0.387 5.849 0.320138 NA 0.57 0.750698 0.666364 NA 0.696 NA 5.1592354 1136 8 2054066 2054066 A G exonic MYOM2 NA synonymous SNV MYOM2:NM_003970:exon22:c.A2769G:p.Q923Q exonic ENSG00000036448 NA synonymous SNV ENSG00000036448:ENST00000523438:exon9:c.A1044G:p.Q348Q,ENSG00000036448:ENST00000262113:exon22:c.A2769G:p.Q923Q NA NA 8p23.3 NA NA NA NA rs17684416 0.2 0.2 0.166 0.173922 0.1799 0.2857 0.2046 0.0855 0.1503 0.18 0.29 0.24 0.08 0.1685 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.25118 NA NA 0.15907 0.09419 NA 0.167 NA 5.1591966 1136 10 30663493 30663493 C G intergenic MTPAP,MAP3K8 dist=25226;dist=59457 NA NA upstream ENSG00000241621 NA NA NA NA NA 10p11.23 NA Name=TBP,IRF1,Egr-1,CEBPB,Pol2 Name=29 NA rs12253112 0.46 0.46 0.482 0.446685 0.341 0.6329 0.4251 0.5219 0.2771 0.33 0.6 0.43 0.54 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56325 NA NA NA NA NA 0.449 NA 5.159 1136 7 102119322 102119322 T C UTR5 POLR2J NM_006234:c.-15A>G NA NA UTR5 ENSG00000005075 ENST00000292614:c.-15A>G,ENST00000393794:c.-15A>G NA NA NA NA 7q22.1 NA Name=Sin3Ak-20,Pol2-4H8,CTCF_(SC-5916),CTCF_(C-20),HEY1,TBP,POU2F2,GABP,TAF1,SP2_(SC-643),CTCFL_(SC-98982),Pol2,Oct-2,ELF1_(SC-631),CTCF Name=122 NA rs1131325 0.42 0.42 0.42 0.450679 0.6362 0.3552 0.5288 0.3207 0.4785 0.53 0.33 0.49 0.32 0.5388 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903196 NA NA NA NA NA 0.007 NA 5.1583334 1136 18 56247180 56247180 T C exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon4:c.A828G:p.L276L exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon4:c.A828G:p.L276L NA NA 18q21.32 NA Name=MafF_(M8194),MafK_(SC-477),HNF4G_(SC-6558),FOXA1_(SC-101058),FOXA2_(SC-6554),RXRA,p300,HNF4A_(H-171),FOXA1_(C-20),c-Jun,MafK_(ab50322) NA NA rs9958735 0.5 0.5 0.475 0.510184 0.5 0.6022 0.4856 0.4289 0.5532 0.49 0.62 0.5 0.37 0.5073 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.082055 2.082055 NA 0.501163 0.436677 NA 0.399 NA 5.1582036 1136 19 58966644 58966644 A T exonic ZNF324B NA synonymous SNV ZNF324B:NM_207395:exon4:c.A333T:p.P111P exonic ENSG00000249471 NA synonymous SNV ENSG00000249471:ENST00000391696:exon3:c.A303T:p.P101P,ENSG00000249471:ENST00000336614:exon4:c.A333T:p.P111P,ENSG00000249471:ENST00000599193:exon4:c.A333T:p.P111P,ENSG00000249471:ENST00000599194:exon4:c.A333T:p.P111P,ENSG00000249471:ENST00000545523:exon5:c.A333T:p.P111P NA NA 19q13.43 NA NA NA NA rs60037165 0.15 0.15 0.116 0.128594 0.167 0.2579 0.0937 0.0083 0.1431 0.18 0.24 0.12 0.02 0.1584 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089239 NA NA 0.183605 0.037903 NA 0.138 NA 5.1576616 1136 3 57168273 57168273 T C intronic IL17RD NA NA NA ncRNA_exonic ENSG00000229863 NA NA NA Score=770;Name=lod=1796 NA 3p14.3 NA NA NA NA rs6803905 0.39 0.39 0.399 0.381989 0.1759 0.5466 0.3963 0.4796 0.2822 0.17 0.58 0.31 0.54 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166563 NA NA NA NA NA 0.319 NA 5.1574333 1136 5 132279016 132279016 C T intronic AFF4 NA NA NA ncRNA_exonic ENSG00000235253 NA NA NA Score=841;Name=lod=3504 NA 5q31.1 NA NA NA NA rs7710795 0.19 0.19 0.19 0.171326 0.1759 0.1419 0.1383 0.2874 0.0634 0.17 0.14 0.17 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189217 NA NA NA NA NA 0.217 NA 5.1574333 1136 17 30036705 30036705 T C intergenic MIR365B,COPRS dist=134165;dist=142179 NA NA ncRNA_exonic ENSG00000266448 NA NA NA Score=669;Name=lod=695 NA 17q11.2 NA Name=GABP NA NA rs315495 0.92 0.92 0.938 0.944089 0.8429 0.999 0.9409 0.9962 0.9233 0.82 1 0.93 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103916 NA NA NA NA NA 0.928 NA 5.1571 1136 16 2156447 2156447 G A exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon18:c.C7441T:p.L2481L,PKD1:NM_001009944:exon18:c.C7441T:p.L2481L exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000487932:exon4:c.C2128T:p.L710L,ENSG00000008710:ENST00000262304:exon18:c.C7441T:p.L2481L,ENSG00000008710:ENST00000423118:exon18:c.C7441T:p.L2481L NA NA 16p13.3 NA NA NA NA rs2003782 0.21 0.21 0.104 0.216054 0.159 NA 0.1715 0.5439 0.0859 0.16 0.01 0.2 0.51 0.2144 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.395336 NA NA 0.136407 0.362966 NA NA NA 5.1568596 1136 14 70714028 70714028 C G ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA Score=374;Name=lod=44 NA 14q24.2 NA NA NA NA rs28597838 0.28 0.28 0.138 0.366414 0.5099 0.1647 0.5216 0.2617 0.4581 0.37 0.14 0.44 0.2 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19228 NA NA NA NA NA NA NA 5.1567666 1136 7 107423254 107423254 C T exonic SLC26A3 NA synonymous SNV SLC26A3:NM_000111:exon11:c.G1299A:p.A433A exonic ENSG00000091138 NA synonymous SNV ENSG00000091138:ENST00000340010:exon11:c.G1299A:p.A433A,ENSG00000091138:ENST00000422236:exon11:c.G1194A:p.A398A NA NA 7q31.1 NA NA NA NA rs3735605 0.16 0.16 0.154 0.150958 0.175 0.2758 0.1369 0.0552 0.137 0.15 0.27 0.15 0.05 0.1581 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326426 NA NA 0.177093 0.074444 ID=COSM1447170;OCCURENCE=1(large_intestine) 0.159 NA 5.1564736 1136 14 103128646 103128646 C T intronic RCOR1 NA NA NA ncRNA_exonic ENSG00000230988 NA NA NA Score=681;Name=lod=783 NA 14q32.31 NA NA NA NA rs72635192 0.25 0.25 0.231 0.251398 0.1769 0.3552 0.3285 0.2088 0.2239 0.17 0.34 0.3 0.21 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538657 NA NA NA NA NA 0.181 NA 5.1564333 1136 14 103128751 103128751 A G intronic RCOR1 NA NA NA ncRNA_exonic ENSG00000230988 NA NA NA Score=681;Name=lod=783 NA 14q32.31 NA NA NA NA rs7143783 0.25 0.25 0.219 0.251597 0.1769 0.3552 0.33 0.2088 0.2239 0.17 0.34 0.3 0.21 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.309722 NA NA NA NA NA 0.181 NA 5.1564333 1136 12 109675029 109675029 T C exonic ACACB NA synonymous SNV ACACB:NM_001093:exon33:c.T4506C:p.L1502L exonic ENSG00000076555 NA synonymous SNV ENSG00000076555:ENST00000543201:exon6:c.T504C:p.L168L,ENSG00000076555:ENST00000377854:exon32:c.T4296C:p.L1432L,ENSG00000076555:ENST00000377848:exon33:c.T4506C:p.L1502L,ENSG00000076555:ENST00000338432:exon34:c.T4506C:p.L1502L Score=583;Name=lod=312 NA 12q24.11 Score=867;Name=V$ELK1_02 NA NA NA rs2241220 0.79 0.79 0.771 0.779153 0.8469 0.7222 0.8804 0.7262 0.7679 0.85 0.7 0.86 0.75 0.8239 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912029 NA NA 0.839535 0.731729 NA 0.797 NA 5.1563316 1136 3 87101877 87101877 C A intergenic VGLL3,MIR4795 dist=61620;dist=173462 NA NA ncRNA_exonic ENSG00000241293 NA NA NA Score=568;Name=lod=271 NA 3p12.1 NA NA Name=5 NA rs2575764 0.69 0.69 0.651 0.670527 0.8439 0.6736 0.8084 0.3918 0.7679 0.86 0.67 0.79 0.37 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.8227 2.8227 NA NA NA NA 0.674 NA 5.1561 1136 12 55808469 55808469 C G intergenic OR6C65,OR6C76 dist=13218;dist=11569 NA NA ncRNA_exonic ENSG00000179899 NA NA NA Score=641;Name=lod=538 NA 12q13.2 NA NA Name=3 NA rs7132076 0.88 0.88 0.849 0.894569 0.8439 1 0.902 0.8094 0.9479 0.85 1 0.9 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560316 NA 1 NA NA NA 0.659 NA 5.1561 1136 19 42315281 42315281 G T UTR3 CEACAM3 NM_001815:c.*6G>T,NM_001277163:c.*21G>T NA NA UTR3 ENSG00000170956 ENST00000357396:c.*6G>T,ENST00000221999:c.*73G>T,ENST00000415495:c.*735G>T,ENST00000344550:c.*21G>T NA NA NA NA 19q13.2 NA Name=PU.1,NFKB Name=9 NA rs899662 0.55 0.55 0.557 0.556909 0.3767 0.5367 0.4942 0.888 0.3599 0.38 0.56 0.43 0.87 0.4209 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343952 NA NA 0.37969 0.797259 NA 0.558 NA 5.1560434 1136 15 64673615 64673615 A G UTR5 KIAA0101 NM_014736:c.-45T>C,NM_001029989:c.-45T>C NA NA UTR5 ENSG00000166803 ENST00000300035:c.-45T>C,ENST00000380258:c.-45T>C,ENST00000559519:c.-45T>C,ENST00000558008:c.-45T>C NA NA NA NA 15q22.31 NA Name=TAF7_(SQ-8),E2F6,Pol2,NELFe,NRSF,Mxi1_(bHLH),Pol2(phosphoS2),E2F4,POU2F2,TAF1,E2F6_(H-50),ETS1,NF-YA,GTF2F1_(RAP-74),CHD2_(N-1250),NF-YB,Oct-2,Sin3Ak-20,HA-E2F1,Pol2-4H8,E2F1,TAL1_(SC-12984),Pol2(b),TBP,IRF1,p300_(N-15),USF-1,GTF2B,NFKB,HEY1 NA NA rs11554310 0.02 0.02 0.024 0.0329473 0.0626 0.001 0.0202 0.003 0.0849 0.06 NA 0.02 0.0041 0.0555 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201046 NA NA 0.059302 0.011348 NA 0.065 NA 5.1559314 1136 3 124462808 124462808 C T exonic UMPS NA synonymous SNV UMPS:NM_000373:exon6:c.C1320T:p.G440G exonic ENSG00000114491 NA synonymous SNV ENSG00000114491:ENST00000413078:exon3:c.C495T:p.G165G,ENSG00000114491:ENST00000538242:exon5:c.C786T:p.G262G,ENSG00000114491:ENST00000232607:exon6:c.C1320T:p.G440G,ENSG00000114491:ENST00000536109:exon7:c.C1044T:p.G348G NA NA 3q21.2 NA NA NA NA rs13146 0.17 0.17 0.158 0.186102 0.1511 0.1677 0.2622 0.1505 0.2352 0.14 0.19 0.24 0.15 0.1887 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.142927 NA NA 0.171047 0.154562 NA 0.174 NA 5.1558196 1136 19 58213693 58213693 C T exonic ZNF154 NA synonymous SNV ZNF154:NM_001085384:exon3:c.G624A:p.R208R exonic ENSG00000179909 NA synonymous SNV ENSG00000179909:ENST00000426889:exon3:c.G624A:p.R208R,ENSG00000179909:ENST00000451275:exon3:c.G624A:p.R208R,ENSG00000179909:ENST00000512439:exon3:c.G624A:p.R208R NA NA 19q13.43 NA NA NA NA rs61730373 0.15 0.15 0.146 0.128794 0.1948 0.0843 0.111 0.1762 0.0552 0.19 0.09 0.14 0.17 0.1507 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.790001 1.790001 NA 0.165501 0.163699 NA 0.123 NA 5.1556656 1136 8 6420490 6420490 C G UTR5 ANGPT2 NM_001147:c.-35G>C,NM_001118887:c.-35G>C,NM_001118888:c.-35G>C NA NA UTR5 ENSG00000091879 ENST00000325203:c.-35G>C,ENST00000415216:c.-35G>C,ENST00000338312:c.-35G>C,ENST00000523120:c.-35G>C NA NA NA NA 8p23.1 NA NA Name=61 NA rs3739390 0.07 0.07 0.055 0.0720847 0.0487 0.1101 0.0663 0.0514 0.089 0.05 0.1 0.09 0.05 0.0642 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072267 NA NA 0.065 0.057422 NA 0.022 NA 5.1554334 1136 6 32629692 32629692 G T intronic HLA-DQB1 NA NA NA ncRNA_intronic ENSG00000241287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs41270915 0.17 0.17 0.1 0.17512 0.1779 0.1815 0.1888 0.1989 0.1237 0.16 0.16 0.2 0.17 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359224 NA NA NA NA NA 0.058 NA 5.1554333 1136 20 47604825 47604825 G A intronic ARFGEF2 NA NA NA intronic ENSG00000124198 NA NA NA NA NA 20q13.13 NA Name=MafK_(ab50322) Name=2 NA rs4810905 0.31 0.31 0.263 0.290735 0.2714 0.4812 0.3573 0.0787 0.3538 0.26 0.51 0.32 0.12 0.3062 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.860951 NA NA 0.267093 0.121652 ID=COSN166560;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.384 NA 5.155307 1137 12 120608031 120608031 A G exonic GCN1L1 NA synonymous SNV GCN1L1:NM_006836:exon15:c.T1461C:p.T487T exonic ENSG00000089154 NA synonymous SNV ENSG00000089154:ENST00000300648:exon15:c.T1461C:p.T487T NA NA 12q24.23 NA NA NA NA rs2286050 0.31 0.31 0.306 0.288938 0.1541 0.5655 0.1297 0.3101 0.227 0.16 0.58 0.15 0.34 0.2107 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.129387 NA NA 0.147149 0.273381 NA 0.145 NA 5.1547176 1137 10 100174721 100174721 T C intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA Score=295;Name=lod=21 NA 10q24.2 NA NA Name=4 NA rs2147900 0.39 0.39 0.343 0.439896 0.2356 0.4395 0.3818 0.5809 0.501 0.22 0.46 0.36 0.57 0.3438 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.621961 1.621961 NA 0.266395 0.520654 NA 0.348 NA 5.154205 1137 15 100332799 100332799 A C ncRNA_exonic DNM1P46 NA NA NA ncRNA_exonic ENSG00000182397,ENSG00000259655 NA NA NA Score=500;Name=lod=143 NA 15q26.3 NA NA NA NA rs11639102 NA NA 0.359 NA NA NA NA NA NA NA NA NA NA 0.5125 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319259 NA 1 NA NA NA 0.181 NA 5.1541666 1137 19 46723136 46723136 T G ncRNA_intronic RNU6-66P NA NA NA ncRNA_exonic ENSG00000269637 NA NA NA Score=736;Name=lod=1311 NA 19q13.32 NA NA NA NA rs11880853 0.45 0.45 0.406 0.435503 0.5129 0.5278 0.402 0.261 0.5204 0.49 0.53 0.44 0.27 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.096711 2.096711 NA NA NA NA 0.304 NA 5.1537666 1137 15 51039891 51039891 T C intronic SPPL2A NA NA NA ncRNA_intronic ENSG00000259773 NA NA NA NA NA 15q21.2 NA NA Name=5 NA rs17599340 0.09 0.09 0.099 0.0684904 0.1799 0.004 0.0749 0.0113 0.093 0.21 0.01 0.1 0.01 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125574 NA NA NA NA NA 0.036 NA 5.1534333 1137 15 93339701 93339701 A T ncRNA_exonic ASB9P1 NA NA NA intronic ENSG00000185442 NA NA NA NA NA 15q26.1 NA Name=TCF4 NA NA rs28575385 0.26 0.26 0.272 0.274361 0.1799 0.119 0.1441 0.646 0.1217 0.17 0.12 0.17 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342877 NA 1 NA NA NA 0.232 NA 5.1534333 1137 17 43552537 43552537 G A exonic PLEKHM1 NA synonymous SNV PLEKHM1:NM_014798:exon4:c.C852T:p.C284C exonic ENSG00000225190 NA synonymous SNV ENSG00000225190:ENST00000421073:exon3:c.C585T:p.C195C,ENSG00000225190:ENST00000430334:exon4:c.C852T:p.C284C,ENSG00000225190:ENST00000581448:exon4:c.C852T:p.C284C NA NA 17q21.31 NA NA NA NA rs71238846 0.1 0.1 0.097 0.0822684 0.1958 0.001 0.1556 0.0378 0.0573 0.18 0.0017 0.19 0.04 0.1263 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.267721 NA NA 0.191628 0.063777 NA 0.029 NA 5.1529386 1137 17 76419882 76419882 G A UTR3 DNAH17 NM_173628:c.*105C>T NA NA UTR3 ENSG00000187775 ENST00000389840:c.*105C>T,ENST00000585328:c.*105C>T,ENST00000591369:c.*425C>T NA NA NA NA 17q25.3 NA Name=STAT1 NA NA rs72903323 0.13 0.13 0.116 0.13139 0.1809 0.0248 0.1282 0.1694 0.1411 0.18 0.03 0.14 0.17 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151397 NA NA NA NA NA 0.203 NA 5.1524334 1137 2 152988269 152988269 G C intronic STAM2 NA NA NA ncRNA_exonic ENSG00000234272 NA NA NA Score=663;Name=lod=661 NA 2q23.3 NA NA NA NA rs11684622 0.12 0.12 0.123 0.0992412 0.1809 0.0198 0.1556 0.1029 0.0521 0.18 0.03 0.18 0.09 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.265176 2.265176 NA NA NA NA 0.21 NA 5.1524333 1137 3 86063391 86063391 A G intronic CADM2 NA NA NA ncRNA_exonic ENSG00000243915 NA NA NA Score=597;Name=lod=355 NA 3p12.1 NA NA NA NA rs9847210 0.29 0.29 0.279 0.316893 0.1809 0.3046 0.2305 0.4894 0.2975 0.17 0.32 0.23 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499827 NA NA NA NA NA 0.319 NA 5.1524333 1137 15 27453278 27453278 G A intronic GABRG3 NA NA NA ncRNA_exonic ENSG00000214254 NA NA NA Score=534;Name=lod=197 NA 15q12 NA NA NA NA rs997140 0.24 0.24 0.229 0.208666 0.1809 0.3165 0.2435 0.1884 0.1288 0.18 0.34 0.24 0.21 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010351 NA NA NA NA NA 0.123 NA 5.1524333 1137 6 39048491 39048491 A C exonic GLP1R NA synonymous SNV GLP1R:NM_002062:exon12:c.A1200C:p.I400I exonic ENSG00000112164 NA synonymous SNV ENSG00000112164:ENST00000373256:exon12:c.A1200C:p.I400I Score=592;Name=lod=340 NA 6p21.2 NA NA NA NA rs1126476 0.49 0.49 0.463 0.491014 0.504 0.4593 0.5375 0.4856 0.4847 0.51 0.44 0.51 0.5 0.4997 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922487 NA NA 0.511628 0.517249 NA 0.58 NA 5.1513386 1137 18 48327815 48327815 G A exonic MRO NA synonymous SNV MRO:NM_001127176:exon5:c.C531T:p.A177A,MRO:NM_031939:exon6:c.C489T:p.A163A exonic ENSG00000134042 NA synonymous SNV ENSG00000134042:ENST00000436348:exon5:c.C531T:p.A177A,ENSG00000134042:ENST00000256425:exon6:c.C489T:p.A163A,ENSG00000134042:ENST00000398439:exon6:c.C489T:p.A163A,ENSG00000134042:ENST00000428869:exon7:c.C489T:p.A163A Score=476;Name=lod=115 NA 18q21.2 NA NA NA NA rs2276186 0.43 0.43 0.412 0.429513 0.5239 0.3512 0.5519 0.261 0.5542 0.53 0.38 0.56 0.23 0.4941 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263789 NA NA 0.497558 0.307081 ID=COSM1130061;OCCURENCE=1(prostate) 0.312 NA 5.1511086 1137 15 78565478 78565478 C T exonic DNAJA4 NA synonymous SNV DNAJA4:NM_001130182:exon3:c.C355T:p.L119L,DNAJA4:NM_001130183:exon3:c.C274T:p.L92L,DNAJA4:NM_018602:exon4:c.C442T:p.L148L exonic ENSG00000140403 NA synonymous SNV ENSG00000140403:ENST00000394852:exon3:c.C355T:p.L119L,ENSG00000140403:ENST00000446172:exon3:c.C274T:p.L92L,ENSG00000140403:ENST00000343789:exon4:c.C355T:p.L119L,ENSG00000140403:ENST00000394855:exon4:c.C442T:p.L148L,ENSG00000140403:ENST00000440911:exon4:c.C355T:p.L119L,ENSG00000140403:ENST00000483802:exon4:c.C355T:p.L119L Score=557;Name=lod=244 NA 15q25.1 NA NA NA NA rs7163689 0.43 0.43 0.419 0.432708 0.503 0.4306 0.4251 0.3343 0.501 0.49 0.42 0.48 0.33 0.481 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670331 NA NA 0.531563 0.390483 NA 0.478 NA 5.1511036 1137 1 6711146 6711146 T C intronic DNAJC11 NA NA NA exonic ENSG00000007923 NA nonsynonymous SNV ENSG00000007923:ENST00000426784:exon7:c.A725G:p.H242R NA NA 1p36.31 NA NA NA NA rs12145525 0.3 0.3 0.279 0.33746 0.326 0.3978 0.3242 0.1944 0.4898 0.33 0.4 0.29 0.15 0.3433 0.4 0.97 T . . . . . . 1.000 P . . 2.42 T -0.921 T 0.000 T 0.157 -1.268 0.045 0.557 0.172 -0.330 3.441 -1.268005 NA 1 0.34656 0.195205 NA 0.319 NA 5.1508067 1137 15 25313128 25313128 A G downstream SNORD116-5,SNORD116-7 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA Name=ZNF274 NA NA rs76534153 0.03 0.03 0.032 0.0403355 0.0159 NA 0.0144 0.1074 0.0348 0.02 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870684 NA NA NA NA NA 0.022 NA 5.1507666 1137 1 152277345 152277345 C T exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.G10017A:p.Q3339Q exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.G10017A:p.Q3339Q NA NA 1q21.3 NA NA NA NA rs2065956 0.26 0.26 0.201 0.28754 0.1421 0.5823 0.3905 0.0113 0.4335 0.15 0.58 0.33 0.02 0.2293 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488561 NA NA 0.144651 0.036541 NA 0.152 NA 5.1506156 1137 6 167549775 167549775 T C exonic CCR6 NA synonymous SNV CCR6:NM_004367:exon3:c.T57C:p.F19F,CCR6:NM_031409:exon3:c.T57C:p.F19F exonic ENSG00000112486 NA synonymous SNV ENSG00000112486:ENST00000341935:exon3:c.T57C:p.F19F,ENSG00000112486:ENST00000400926:exon3:c.T57C:p.F19F,ENSG00000112486:ENST00000349984:exon4:c.T57C:p.F19F NA NA 6q27 NA NA NA NA rs3093007 0.14 0.14 0.14 0.130791 0.1759 0.0476 0.1167 0.1778 0.1166 0.17 0.06 0.12 0.22 0.155 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181934 NA NA 0.185349 0.17635 NA 0.174 NA 5.1504176 1137 15 50731213 50731213 G C UTR5 USP8 NM_005154:c.-58G>C,NM_001128611:c.-58G>C,NM_001128610:c.-58G>C NA NA UTR5 ENSG00000138592 ENST00000560297:c.-58G>C,ENST00000433963:c.-58G>C,ENST00000396444:c.-58G>C,ENST00000307179:c.-58G>C,ENST00000425032:c.-58G>C,ENST00000559329:c.-58G>C,ENST00000560730:c.-58G>C,ENST00000560982:c.-58G>C,ENST00000561211:c.-58G>C,ENST00000558091:c.-58G>C NA NA NA NA 15q21.2 Score=886;Name=V$NKX22_01 NA NA NA rs11632697 0.12 0.12 0.106 0.127196 0.1839 0.002 0.2507 0.0605 0.2004 0.17 NA 0.25 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477734 NA NA NA NA NA 0.13 NA 5.1494334 1137 8 131092026 131092026 T A intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA NA NA 8q24.21 NA Name=PAX5-C20,PAX5-N19,NFKB,BCL11A,MEF2A,IRF4_(M-17),BATF,EBF1_(C-8) Name=16 NA rs6415509 0.91 0.91 0.89 0.909545 0.8509 0.9673 0.938 0.9145 0.8834 0.84 0.97 0.94 0.9 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335114 NA NA NA NA NA 0.819 NA 5.1491 1137 15 50759159 50759159 A G intronic USP8 NA NA NA ncRNA_exonic ENSG00000242737 NA NA NA Score=695;Name=lod=889 NA 15q21.2 NA NA NA NA rs11637104 0.11 0.11 0.101 0.121605 0.1849 0.002 0.2493 0.0393 0.2004 0.17 NA 0.24 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672667 NA NA NA NA NA 0.13 NA 5.1484333 1137 10 50121784 50121784 T C exonic LRRC18 NA synonymous SNV LRRC18:NM_001006939:exon1:c.A417G:p.T139T exonic ENSG00000165383 NA synonymous SNV ENSG00000165383:ENST00000374160:exon1:c.A417G:p.T139T,ENSG00000165383:ENST00000298124:exon2:c.A417G:p.T139T NA NA 10q11.23 Score=1000;Name=V$AML1_01 NA NA NA rs10776653 0.54 0.54 0.601 0.6252 0.494 0.7292 0.5346 0.68 0.6431 0.47 0.65 0.51 0.55 0.531 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304901 NA NA 0.494419 0.629596 NA 0.507 NA 5.1472476 1137 1 1635749 1635749 C A exonic CDK11A NA synonymous SNV CDK11A:NM_024011:exon15:c.G1599T:p.R533R,CDK11A:NM_033529:exon15:c.G1569T:p.R523R exonic ENSG00000008128 NA synonymous SNV ENSG00000008128:ENST00000356200:exon14:c.G1497T:p.R499R,ENSG00000008128:ENST00000357760:exon15:c.G1596T:p.R532R,ENSG00000008128:ENST00000358779:exon15:c.G1569T:p.R523R,ENSG00000008128:ENST00000378633:exon15:c.G1608T:p.R536R,ENSG00000008128:ENST00000378638:exon15:c.G1497T:p.R499R,ENSG00000008128:ENST00000404249:exon15:c.G1599T:p.R533R Score=561;Name=lod=255 NA 1p36.33 NA NA NA NA rs1136997 0.34 0.34 0.286 0.397564 0.5368 0.252 0.4553 0.407 0.3507 0.44 0.21 0.4 0.33 0.4717 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159021 NA NA 0.511034 0.389633 NA 0.254 NA 5.1471326 1137 17 37234111 37234111 G A ncRNA_intronic LOC100131347 NA NA NA ncRNA_intronic ENSG00000263818 NA NA NA NA NA 17q12 NA Name=CTCF NA NA rs3744078 0.45 0.45 0.423 0.483027 0.5199 0.4107 0.6484 0.3321 0.6063 0.52 0.39 0.59 0.32 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005847 NA NA NA NA NA 0.478 NA 5.1467666 1137 4 25005193 25005193 G A exonic LGI2 NA synonymous SNV LGI2:NM_018176:exon8:c.C1518T:p.Y506Y exonic ENSG00000153012 NA synonymous SNV ENSG00000153012:ENST00000382114:exon8:c.C1518T:p.Y506Y Score=483;Name=lod=123 NA 4p15.2 NA NA NA NA rs2232028 0.73 0.73 0.777 0.765775 0.4632 0.9742 0.6455 0.9115 0.7505 0.48 0.97 0.6 0.92 0.6006 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155661 NA NA 0.456279 0.844076 NA 0.667 NA 5.1465876 1137 16 84228873 84228873 C T exonic ADAD2 NA synonymous SNV ADAD2:NM_139174:exon6:c.C951T:p.G317G exonic ENSG00000140955 NA synonymous SNV ENSG00000140955:ENST00000268624:exon6:c.C951T:p.G317G NA NA 16q24.1 NA NA NA NA rs11865115 0.13 0.13 0.11 0.100839 0.1978 0.1161 0.1225 0.0469 0.0429 0.2 0.11 0.15 0.05 0.1422 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407983 NA NA 0.180098 0.060641 NA 0.109 NA 5.1465686 1137 5 76586994 76586994 G A intronic PDE8B NA NA NA ncRNA_exonic ENSG00000251400 NA NA NA Score=812;Name=lod=2659 NA 5q13.3 NA NA NA NA rs251412 0.12 0.12 0.125 0.108227 0.1869 0.0268 0.1527 0.0764 0.1227 0.19 0.04 0.19 0.08 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.365116 NA NA NA NA NA 0.094 NA 5.1464333 1137 8 68968171 68968171 G A exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon10:c.G1200A:p.K400K,PREX2:NM_025170:exon10:c.G1200A:p.K400K exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon10:c.G1200A:p.K400K Score=680;Name=lod=773 NA 8q13.2 NA NA NA NA rs1434775 0.53 0.53 0.528 0.561701 0.5239 0.2688 0.4755 0.8865 0.5245 0.53 0.28 0.48 0.86 0.5064 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26214 1.26214 NA 0.490116 0.82138 NA 0.623 NA 5.1462506 1137 4 100266371 100266371 A G exonic ADH1C NA unknown UNKNOWN exonic ENSG00000248144 NA unknown UNKNOWN Score=340;Name=lod=32 NA 4q23 NA NA NA NA rs1789915 0.17 0.17 0.153 0.15016 0.3151 0.0248 0.1686 0.093 0.1738 0.32 0.01 0.18 0.12 0.2454 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910036 NA NA 0.293256 0.118128 NA 0.188 NA 5.146244 1137 14 21967916 21967916 A G exonic METTL3 NA synonymous SNV METTL3:NM_019852:exon7:c.T1335C:p.N445N exonic ENSG00000165819 NA synonymous SNV ENSG00000165819:ENST00000298717:exon7:c.T1335C:p.N445N Score=588;Name=lod=328 NA 14q11.2 NA NA NA NA rs1139130 0.51 0.51 0.485 0.511981 0.5 0.3542 0.6282 0.5749 0.5194 0.52 0.35 0.6 0.59 0.5179 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611639 NA NA 0.50314 0.531094 NA 0.471 NA 5.1456266 1137 9 126134542 126134542 G A exonic CRB2 NA synonymous SNV CRB2:NM_173689:exon9:c.G2523A:p.T841T exonic ENSG00000148204 NA synonymous SNV ENSG00000148204:ENST00000373629:exon4:c.G1527A:p.T509T,ENSG00000148204:ENST00000460253:exon4:c.G1527A:p.T509T,ENSG00000148204:ENST00000359999:exon9:c.G2523A:p.T841T,ENSG00000148204:ENST00000373631:exon9:c.G2523A:p.T841T NA NA 9q33.3 Score=861;Name=V$HEN1_01 NA NA NA rs61740213 0.37 0.37 0.335 0.329073 0.5298 0.377 0.3963 0.0658 0.3814 0.54 0.34 0.44 0.08 0.4466 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226621 NA NA 0.544651 0.121425 NA 0.29 NA 5.1456156 1137 11 5602679 5602679 T C exonic OR52B6 NA synonymous SNV OR52B6:NM_001005162:exon1:c.T573C:p.N191N exonic ENSG00000187747 NA synonymous SNV ENSG00000187747:ENST00000345043:exon1:c.T573C:p.N191N NA NA 11p15.4 Score=904;Name=V$CDPCR3HD_01 NA NA NA rs892336 0.69 0.69 0.702 0.716454 0.4761 0.9792 0.67 0.7413 0.6922 0.47 0.97 0.63 0.72 0.5744 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132438 NA NA 0.470684 0.703204 NA 0.623 NA 5.1454826 1137 13 111980537 111980537 C T exonic TEX29 NA synonymous SNV TEX29:NM_152324:exon3:c.C66T:p.D22D exonic ENSG00000153495 NA synonymous SNV ENSG00000153495:ENST00000283547:exon3:c.C66T:p.D22D,ENSG00000153495:ENST00000497241:exon3:c.C147T:p.D49D Score=443;Name=lod=84 NA 13q34 NA NA NA NA rs1359428 0.53 0.53 0.501 0.541733 0.492 0.7927 0.6585 0.2466 0.6503 0.5 0.75 0.6 0.26 0.5416 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935499 NA NA 0.487791 0.290967 NA 0.507 NA 5.1452756 1138 11 4159457 4159457 A G exonic RRM1 NA synonymous SNV RRM1:NM_001033:exon19:c.A2223G:p.T741T exonic ENSG00000167325 NA synonymous SNV ENSG00000167325:ENST00000534285:exon13:c.A1557G:p.T519T,ENSG00000167325:ENST00000537197:exon13:c.A1209G:p.T403T,ENSG00000167325:ENST00000423050:exon18:c.A1932G:p.T644T,ENSG00000167325:ENST00000300738:exon19:c.A2223G:p.T741T Score=639;Name=lod=525 NA 11p15.4 NA NA NA NA rs9937 0.4 0.4 0.359 0.344649 0.5239 0.3819 0.4424 0.0953 0.3896 0.52 0.42 0.49 0.13 0.4614 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.720791 2.720791 NA 0.536529 0.166515 NA 0.312 NA 5.1448376 1138 14 77926011 77926011 C T exonic AHSA1 NA synonymous SNV AHSA1:NM_012111:exon2:c.C133T:p.L45L exonic ENSG00000100591 NA synonymous SNV ENSG00000100591:ENST00000216479:exon2:c.C133T:p.L45L,ENSG00000100591:ENST00000535854:exon2:c.C133T:p.L45L,ENSG00000100591:ENST00000555517:exon2:c.C133T:p.L45L Score=383;Name=lod=48 NA 14q24.3 NA NA NA NA rs1061629 0.51 0.51 0.488 0.474441 0.4901 0.9236 0.5144 0.0688 0.5153 0.49 0.93 0.46 0.08 0.5092 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.388669 1.388669 NA 0.522558 0.145937 NA 0.377 NA 5.1448086 1138 6 130761804 130761804 C T exonic TMEM200A NA synonymous SNV TMEM200A:NM_001258276:exon2:c.C237T:p.A79A,TMEM200A:NM_001258278:exon2:c.C237T:p.A79A,TMEM200A:NM_052913:exon2:c.C237T:p.A79A,TMEM200A:NM_001258277:exon3:c.C237T:p.A79A exonic ENSG00000164484 NA synonymous SNV ENSG00000164484:ENST00000392429:exon2:c.C237T:p.A79A,ENSG00000164484:ENST00000545622:exon2:c.C237T:p.A79A,ENSG00000164484:ENST00000296978:exon3:c.C237T:p.A79A NA NA 6q23.1 NA NA NA NA rs12200105 0.25 0.25 0.239 0.261981 0.172 0.1339 0.2248 0.5408 0.136 0.18 0.09 0.23 0.54 0.1895 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457896 NA NA 0.160698 0.455742 NA 0.275 NA 5.1444686 1138 2 132201468 132201468 G A ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=614;Name=lod=417 NA 2q21.1 NA NA NA NA rs4522649 0.36 0.36 0.291 0.351637 0.2286 0.7579 0.5086 0.084 0.3098 0.22 0.73 0.43 0.11 0.2936 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494104 NA NA NA NA NA 0.232 NA 5.1444666 1138 6 133046003 133046003 G A ncRNA_exonic VNN3 NA NA NA exonic ENSG00000093134 NA synonymous SNV ENSG00000093134:ENST00000207771:exon6:c.C942T:p.Y314Y NA NA 6q23.2 NA NA NA NA rs45513492 0.0046 0.0046 NA 0.00139776 0.006 NA 0.0014 NA NA 0.01 NA 0.0028 0.002 0.0053 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.606897 1.606897 NA 0.01105 0.001142 NA NA NA 5.1443166 1138 1 236647511 236647511 T C UTR3 EDARADD NM_145861:c.*1562T>C,NM_080738:c.*1562T>C NA NA ncRNA_exonic ENSG00000244457 NA NA NA Score=795;Name=lod=2274 NA 1q43 NA NA NA NA rs7513402 0.26 0.26 0.245 0.253994 0.3559 0.0952 0.3285 0.202 0.3303 0.36 0.1 0.32 0.23 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898132 NA NA NA NA NA 0.333 NA 5.1441 1138 4 155219361 155219361 A G exonic DCHS2 NA synonymous SNV DCHS2:NM_017639:exon18:c.T4740C:p.D1580D exonic ENSG00000197410 NA synonymous SNV ENSG00000197410:ENST00000357232:exon18:c.T4740C:p.D1580D NA NA 4q31.3 NA NA NA NA rs17031387 0.15 0.15 0.133 0.172324 0.174 0.1528 0.1138 0.1687 0.2372 0.16 0.13 0.15 0.15 0.1723 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481606 NA NA 0.176628 0.182478 NA 0.13 NA 5.1437386 1138 1 26644698 26644698 C T UTR5 UBXN11 NM_145345:c.-15324G>A NA NA UTR5 ENSG00000158062 ENST00000374217:c.-15324G>A,ENST00000374222:c.-15324G>A NA NA NA NA 1p36.11 NA NA Name=2 NA rs12090258 0.13 0.13 0.118 0.123802 0.1899 0.0218 0.1066 0.1838 0.092 0.2 0.02 0.11 0.15 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104398 NA NA NA NA NA 0.094 NA 5.1434334 1138 16 1657012 1657012 C T intronic IFT140 NA NA NA ncRNA_intronic ENSG00000260989 NA NA NA NA NA 16p13.3 NA Name=BCL3 NA NA rs7192480 0.27 0.27 0.271 0.285743 0.1899 0.3681 0.1455 0.3343 0.3333 0.2 0.36 0.17 0.35 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285446 NA NA NA NA ID=COSN165086;OCCURENCE=1(NS),1(haematopoietic_and_lymphoid_tissue),1(urinary_tract),2(lung),1(large_intestine) 0.254 NA 5.1434333 1138 12 30823971 30823971 A G exonic IPO8 NA synonymous SNV IPO8:NM_001190995:exon5:c.T354C:p.L118L,IPO8:NM_006390:exon9:c.T969C:p.L323L exonic ENSG00000133704 NA synonymous SNV ENSG00000133704:ENST00000542464:exon5:c.T411C:p.L137L,ENSG00000133704:ENST00000544829:exon5:c.T354C:p.L118L,ENSG00000133704:ENST00000256079:exon9:c.T969C:p.L323L Score=471;Name=lod=109 NA 12p11.21 NA NA NA NA rs1054426 0.49 0.49 0.517 0.49401 0.5089 0.4484 0.2911 0.702 0.3885 0.52 0.45 0.29 0.64 0.4974 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113305 NA NA 0.517326 0.658647 NA 0.384 NA 5.1430406 1138 1 26589636 26589636 A G intronic CEP85 NA NA NA ncRNA_exonic ENSG00000270733 NA NA NA Score=295;Name=lod=21 NA 1p36.11 NA NA NA NA rs12141563 0.13 0.13 0.119 0.132188 0.1909 0.0228 0.1066 0.2027 0.1074 0.21 0.02 0.11 0.16 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3245 NA NA NA NA NA 0.094 NA 5.1424333 1138 7 29252677 29252677 C T intronic CHN2 NA NA NA ncRNA_exonic ENSG00000237065 NA NA NA NA NA 7p14.3 NA Name=GR NA NA rs113419286 0.1 0.1 0.056 0.0780751 0.1909 0.0188 0.1542 0.0348 0.0276 0.19 0.01 0.15 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293785 NA NA NA NA NA 0.043 NA 5.1424333 1138 9 39154310 39154310 T C intronic CNTNAP3 NA NA NA ncRNA_exonic ENSG00000226625 NA NA NA Score=611;Name=lod=406 NA 9p13.1 NA NA NA NA rs75922711 0.14 0.14 0.135 0.122404 0.1909 0.1984 0.0836 0.0136 0.1483 0.21 0.18 0.1 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284444 NA NA NA NA NA 0.109 NA 5.1424333 1138 14 36235586 36235586 G A intronic RALGAPA1 NA NA NA ncRNA_exonic ENSG00000257957 NA NA NA Score=662;Name=lod=654 NA 14q13.2 NA NA NA NA rs10129696 0.44 0.44 0.467 0.473243 0.1909 0.5784 0.2277 0.7557 0.4479 0.19 0.61 0.29 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281766 NA NA NA NA NA 0.399 NA 5.1424333 1138 15 91178310 91178310 C T intronic CRTC3 NA NA NA ncRNA_intronic ENSG00000259736 NA NA NA Score=483;Name=lod=123 NA 15q26.1 NA NA NA NA rs57373970 0.18 0.18 0.132 0.201877 0.1909 0.2093 0.1196 0.2746 0.1656 0.19 0.15 0.13 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.715436 2.715436 NA NA NA NA 0.109 NA 5.1424333 1138 2 38302544 38302544 G A intronic CYP1B1 NA NA NA intronic ENSG00000138061 NA NA NA NA NA 2p22.2 NA Name=Pol2,Pol2-4H8 Name=85 NA rs2617266 0.26 0.26 0.232 0.294129 0.2853 0.1806 0.2839 0.2821 0.4438 0.3 0.18 0.26 0.3 0.2993 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145678 NA NA 0.27314 0.257156 NA 0.254 NA 5.14226 1138 20 30919183 30919183 A G UTR3 KIF3B NM_004798:c.*61A>G NA NA UTR3 ENSG00000101350 ENST00000375712:c.*61A>G,ENST00000418717:c.*61A>G NA NA Score=412;Name=lod=63 NA 20q11.21 NA NA NA NA rs1029116 0.3 0.3 0.292 0.285743 0.1918 0.251 0.268 0.5333 0.0961 0.18 0.26 0.3 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015364 NA NA NA NA NA 0.457 NA 5.1415334 1138 1 207739127 207739127 A G intronic CR1 NA NA NA ncRNA_intronic ENSG00000236911 NA NA NA NA NA 1q32.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=25 NA rs3886100 0.44 0.44 0.393 0.391573 0.5974 0.3552 0.5706 0.146 0.4223 0.58 0.42 0.56 0.17 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546714 NA NA 0.594654 0.2125 NA 0.268 NA 5.1412793 1138 2 29449819 29449819 C T exonic ALK NA synonymous SNV ALK:NM_004304:exon18:c.G3036A:p.T1012T exonic ENSG00000171094 NA synonymous SNV ENSG00000171094:ENST00000389048:exon18:c.G3036A:p.T1012T NA NA 2p23.2 NA NA NA NA rs2293563 0.18 0.18 0.182 0.169928 0.1928 0.119 0.147 0.2277 0.137 0.17 0.13 0.16 0.25 0.1591 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258678 NA NA 0.173488 0.221062 ID=COSM148824;OCCURENCE=1(stomach) 0.203 NA 5.1412786 1138 14 20859205 20859205 C T exonic TEP1 NA synonymous SNV TEP1:NM_007110:exon14:c.G2148A:p.A716A exonic ENSG00000129566 NA synonymous SNV ENSG00000129566:ENST00000555008:exon2:c.G198A:p.A66A,ENSG00000129566:ENST00000556935:exon12:c.G1824A:p.A608A,ENSG00000129566:ENST00000262715:exon14:c.G2148A:p.A716A,ENSG00000129566:ENST00000555727:exon14:c.G2148A:p.A716A NA NA 14q11.2 NA NA NA NA rs872074 0.15 0.15 0.163 0.160144 0.1819 0.0317 0.1297 0.2685 0.1452 0.18 0.04 0.12 0.28 0.168 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913489 NA NA 0.176163 0.241943 ID=COSM330302;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.101 NA 5.1406036 1138 11 61404336 61404336 G A ncRNA_exonic RPLP0P2 NA NA NA ncRNA_exonic ENSG00000243742 NA NA NA Score=806;Name=lod=2526 NA 11q12.2 NA NA NA NA rs17626916 0.15 0.15 0.133 0.139177 0.2913 0.0208 0.2017 0.0439 0.1892 0.28 0.02 0.23 0.04 0.2348 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268646 NA NA NA NA NA 0.174 NA 5.1405666 1138 1 241907817 241907817 T C exonic WDR64 NA synonymous SNV WDR64:NM_144625:exon12:c.T1563C:p.N521N exonic ENSG00000162843 NA synonymous SNV ENSG00000162843:ENST00000472717:exon2:c.T240C:p.N80N,ENSG00000162843:ENST00000414635:exon7:c.T876C:p.N292N,ENSG00000162843:ENST00000366552:exon12:c.T1563C:p.N521N,ENSG00000162843:ENST00000437684:exon12:c.T1563C:p.N521N Score=441;Name=lod=83 NA 1q43 NA NA NA NA rs10802990 0.56 0.56 0.568 0.590855 0.4672 0.5149 0.572 0.8185 0.502 0.44 0.54 0.52 0.78 0.5354 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455505 NA NA 0.523605 0.774172 NA 0.659 NA 5.1404616 1138 7 128607384 128607384 G A exonic TNPO3 NA synonymous SNV TNPO3:NM_001191028:exon20:c.C2469T:p.A823A,TNPO3:NM_012470:exon21:c.C2661T:p.A887A exonic ENSG00000064419 NA synonymous SNV ENSG00000064419:ENST00000471234:exon20:c.C2469T:p.A823A,ENSG00000064419:ENST00000265388:exon21:c.C2661T:p.A887A,ENSG00000064419:ENST00000393245:exon21:c.C2763T:p.A921A,ENSG00000064419:ENST00000471166:exon21:c.C2763T:p.A921A,ENSG00000064419:ENST00000482320:exon22:c.C2463T:p.A821A NA NA 7q32.1 Score=924;Name=V$TGIF_01 NA NA NA rs8043 0.48 0.48 0.5 0.476837 0.5318 0.4425 0.366 0.5061 0.4949 0.53 0.45 0.38 0.49 0.4779 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379941 1.379941 NA 0.516628 0.498865 NA 0.471 NA 5.1403386 1138 9 14859356 14859356 T C exonic FREM1 NA synonymous SNV FREM1:NM_144966:exon5:c.A456G:p.Q152Q exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380880:exon4:c.A456G:p.Q152Q,ENSG00000164946:ENST00000380875:exon5:c.A456G:p.Q152Q,ENSG00000164946:ENST00000380881:exon5:c.A456G:p.Q152Q,ENSG00000164946:ENST00000422223:exon5:c.A456G:p.Q152Q NA NA 9p22.3 NA NA NA NA rs10961757 0.27 0.27 0.252 0.248403 0.164 0.5367 0.2435 0.1483 0.1769 0.17 0.52 0.24 0.15 0.21 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404054 NA NA 0.152643 0.146656 NA 0.225 NA 5.1400236 1138 1 65858145 65858145 G A exonic DNAJC6 NA synonymous SNV DNAJC6:NM_001256864:exon12:c.G1500A:p.E500E,DNAJC6:NM_014787:exon12:c.G1329A:p.E443E,DNAJC6:NM_001256865:exon13:c.G1290A:p.E430E exonic ENSG00000116675 NA synonymous SNV ENSG00000116675:ENST00000371069:exon12:c.G1500A:p.E500E,ENSG00000116675:ENST00000395325:exon12:c.G1329A:p.E443E,ENSG00000116675:ENST00000494710:exon12:c.G1422A:p.E474E,ENSG00000116675:ENST00000263441:exon13:c.G1290A:p.E430E Score=401;Name=lod=57 NA 1p31.3 NA NA NA NA rs4325172 0.36 0.36 0.342 0.354034 0.5338 0.1885 0.4323 0.2784 0.3865 0.52 0.17 0.46 0.27 0.459 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899088 NA NA 0.533953 0.320472 NA 0.391 NA 5.1399136 1138 9 117122202 117122202 C T exonic AKNA NA synonymous SNV AKNA:NM_030767:exon10:c.G2265A:p.E755E exonic ENSG00000106948 NA synonymous SNV ENSG00000106948:ENST00000374075:exon8:c.G2022A:p.E674E,ENSG00000106948:ENST00000223791:exon9:c.G645A:p.E215E,ENSG00000106948:ENST00000307564:exon10:c.G2265A:p.E755E,ENSG00000106948:ENST00000312033:exon10:c.G2265A:p.E755E,ENSG00000106948:ENST00000374088:exon10:c.G2265A:p.E755E Score=265;Name=lod=16 NA 9q32 NA NA NA NA rs3748177 0.39 0.39 0.363 0.389976 0.508 0.3869 0.4769 0.1339 0.5562 0.51 0.38 0.49 0.12 0.4867 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.173355 NA NA 0.532326 0.196777 ID=COSM150684;OCCURENCE=1(stomach),1(prostate) 0.493 NA 5.1396406 1138 12 120591143 120591143 A G exonic GCN1L1 NA synonymous SNV GCN1L1:NM_006836:exon33:c.T3936C:p.Y1312Y exonic ENSG00000089154 NA synonymous SNV ENSG00000089154:ENST00000300648:exon33:c.T3936C:p.Y1312Y NA NA 12q24.23 NA NA NA NA rs12312562 0.35 0.35 0.347 0.341853 0.1551 0.5546 0.1441 0.5053 0.2342 0.16 0.56 0.17 0.52 0.2237 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718952 NA NA 0.149087 0.417932 ID=COSM1359333;OCCURENCE=1(large_intestine) 0.225 NA 5.1387796 1138 17 39406409 39406409 C A exonic KRTAP9-4 NA nonsynonymous SNV KRTAP9-4:NM_033191:exon1:c.C437A:p.S146Y exonic ENSG00000241595 NA nonsynonymous SNV ENSG00000241595:ENST00000334109:exon1:c.C437A:p.S146Y NA NA 17q21.2 NA NA NA NA rs2191379 0.67 0.67 0.635 0.675919 0.7336 0.631 0.8012 0.5053 0.8047 0.73 0.64 0.78 0.52 0.7369 0.78 0.17 T 0.339 B 0.093 B . . 1.000 P 1.24 L 5.3 T -1.137 T 0.000 T 0.182 1.429 10.72 1.38 0.535 -0.100 4.338 1.429114 1.429114 0.04 0.724186 0.5202 NA 0.13 NA 5.1386474 1138 12 69593883 69593883 A G intergenic CPM,CPSF6 dist=236863;dist=39434 NA NA intergenic ENSG00000252547,ENSG00000258140 dist=82451;dist=12020 NA NA NA NA 12q15 NA Name=SETDB1,KAP1 Name=3 NA rs12302044 0.13 0.13 0.114 0.14377 0.1948 0.1518 0.1254 0.0643 0.2035 0.18 0.13 0.13 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648554 NA NA NA NA NA 0.123 NA 5.1385334 1138 14 103878949 103878949 C T intronic MARK3 NA NA NA ncRNA_exonic ENSG00000244691 NA NA NA Score=568;Name=lod=271 NA 14q32.32 NA NA NA NA rs4900573 0.21 0.21 0.151 0.229233 0.1948 0.4375 0.2061 0.0061 0.3681 0.18 0.44 0.2 0.01 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12773 NA NA NA NA NA 0.159 NA 5.1385333 1138 X 2408437 2408437 G A exonic ZBED1 NA synonymous SNV ZBED1:NM_001171135:exon2:c.C324T:p.D108D,ZBED1:NM_001171136:exon2:c.C324T:p.D108D,ZBED1:NM_004729:exon2:c.C324T:p.D108D exonic ENSG00000214717 NA synonymous SNV ENSG00000214717:ENST00000381218:exon2:c.C324T:p.D108D,ENSG00000214717:ENST00000381222:exon2:c.C324T:p.D108D,ENSG00000214717:ENST00000381223:exon2:c.C324T:p.D108D,ENSG00000214717:ENST00000461691:exon2:c.C324T:p.D108D NA NA Xp22.33 NA NA NA NA rs3752331 0.19 0.19 0.1876 NA NA NA NA NA NA 0.27 0.2 0.16 0.07 0.2472 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.772975 NA NA 0.281774 0.105084 ID=COSM1319460;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.116 NA 5.1376926 1138 11 61405104 61405104 T G ncRNA_exonic RPLP0P2 NA NA NA ncRNA_exonic ENSG00000243742 NA NA NA Score=806;Name=lod=2526 NA 11q12.2 NA NA NA NA rs12281961 0.15 0.15 0.123 0.142772 0.2883 0.0208 0.2046 0.0567 0.1912 0.28 0.02 0.24 0.05 0.2408 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303165 NA NA NA NA NA 0.174 NA 5.1375666 1138 1 33957130 33957130 C A exonic ZSCAN20 NA synonymous SNV ZSCAN20:NM_145238:exon6:c.C1272A:p.A424A exonic ENSG00000121903 NA synonymous SNV ENSG00000121903:ENST00000373413:exon4:c.C1110A:p.A370A,ENSG00000121903:ENST00000361328:exon6:c.C1272A:p.A424A NA NA 1p35.1 NA NA NA NA rs3795419 0.18 0.18 0.144 0.194489 0.162 0.3651 0.2104 0.0204 0.2761 0.16 0.35 0.17 0.03 0.1951 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835201 NA NA 0.172197 0.04529 ID=COSM146460;OCCURENCE=1(stomach) 0.094 NA 5.1373696 1138 5 14960648 14960648 A G intergenic ANKH,FBXL7 dist=88761;dist=539657 NA NA ncRNA_exonic ENSG00000250247 NA NA NA Score=801;Name=lod=2389 NA 5p15.2 NA Name=CEBPB NA NA rs835111 0.83 0.83 0.821 0.827676 0.8628 0.8155 0.9006 0.7489 0.8589 0.87 0.81 0.9 0.76 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.368394 1.368394 NA NA NA NA 0.775 NA 5.1372 1138 6 158499302 158499302 G T exonic SYNJ2 NA synonymous SNV SYNJ2:NM_001178088:exon17:c.G1845T:p.A615A,SYNJ2:NM_003898:exon18:c.G2556T:p.A852A exonic ENSG00000078269 NA synonymous SNV ENSG00000078269:ENST00000355585:exon18:c.G2556T:p.A852A,ENSG00000078269:ENST00000367121:exon18:c.G2556T:p.A852A,ENSG00000078269:ENST00000367122:exon18:c.G2556T:p.A852A Score=458;Name=lod=97 NA 6q25.3 NA NA NA NA rs2296507 0.55 0.55 0.584 0.552915 0.5099 0.5833 0.353 0.6732 0.545 0.53 0.54 0.39 0.71 0.5104 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878044 NA NA 0.509535 0.640036 NA 0.58 NA 5.1368316 1138 2 174094345 174094345 A T ncRNA_intronic MLK7-AS1 NA NA NA ncRNA_intronic ENSG00000238133 NA NA NA NA NA 2q31.1 NA NA Name=3 NA rs10193498 0.42 0.42 0.445 0.397165 0.2654 0.625 0.3674 0.447 0.2515 0.25 0.62 0.39 0.5 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833275 NA NA 0.264613 0.405347 NA 0.384 NA 5.1366536 1138 21 47420723 47420723 G C intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA Name=22 NA rs13053065 0.28 0.28 0.23 0.265974 0.2704 0.1359 0.2795 0.4039 0.1994 0.27 0.15 0.3 0.41 0.2839 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109824 NA NA 0.309302 0.388334 NA 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079768.1;CLNDSDB=.;CLNDSDBID=. 5.136398 1138 9 136505114 136505114 A G exonic DBH NA synonymous SNV DBH:NM_000787:exon2:c.A486G:p.E162E exonic ENSG00000123454 NA synonymous SNV ENSG00000123454:ENST00000393056:exon2:c.A486G:p.E162E Score=464;Name=lod=103 NA 9q34.2 NA NA NA NA rs1108580 0.44 0.44 0.453 0.429912 0.5368 0.122 0.3963 0.6823 0.32 0.53 0.14 0.42 0.66 0.4599 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.913514 1.913514 NA 0.533605 0.650477 ID=COSM1460845;OCCURENCE=1(large_intestine) 0.543 NA 5.1363616 1138 10 17024615 17024615 A T exonic CUBN NA synonymous SNV CUBN:NM_001081:exon31:c.T4563A:p.I1521I exonic ENSG00000107611 NA synonymous SNV ENSG00000107611:ENST00000438254:exon2:c.T129A:p.I43I,ENSG00000107611:ENST00000377833:exon31:c.T4563A:p.I1521I Score=515;Name=lod=165 NA 10p13 NA NA NA Score=112;Name=245158_0_-_112 rs1801229 0.63 0.63 0.603 0.613818 0.8678 0.5585 0.6268 0.351 0.7556 0.86 0.52 0.65 0.39 0.7732 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.586302 1.586302 NA 0.889651 0.473899 NA 0.674 NA 5.1360156 1138 9 84207898 84207898 C G intronic TLE1 NA NA NA intronic ENSG00000196781 NA NA NA Score=492;Name=lod=133 NA 9q21.32 NA NA Name=24 NA rs7023704 0.22 0.22 0.188 0.222045 0.2664 0.2966 0.255 0.028 0.3384 0.29 0.27 0.23 0.04 0.2993 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.671922 3.671922 NA 0.298372 0.070813 NA 0.138 NA 5.135928 1138 11 49831862 49831862 G A ncRNA_exonic LOC440040 NA NA NA ncRNA_exonic ENSG00000205035 NA NA NA Score=346;Name=lod=34 NA 11p11.12 NA NA NA NA rs10839383 0.46 0.46 0.41 0.433307 0.5308 0.5556 0.598 0.1619 0.4571 0.54 0.55 0.62 0.13 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399574 NA NA NA NA NA 0.362 NA 5.1358666 1138 15 69315443 69315443 C T ncRNA_intronic MIR548H4 NA NA NA ncRNA_exonic ENSG00000259745 NA NA NA Score=488;Name=lod=128 NA 15q23 NA NA NA NA rs438866 0.29 0.29 0.28 0.265575 0.5308 0.0575 0.3473 0.1362 0.3241 0.54 0.07 0.37 0.12 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117327 NA NA NA NA NA 0.275 NA 5.1358666 1138 15 76032462 76032462 A T upstream DNM1P35 NA NA NA ncRNA_intronic ENSG00000260288 NA NA NA NA NA 15q24.2 NA NA NA NA NA NA NA NA 0.0131789 0.0308 NA 0.0231 0.0023 0.0164 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085235 NA NA NA NA NA NA NA 5.1358666 1138 6 39040654 39040654 A C exonic GLP1R NA synonymous SNV GLP1R:NM_002062:exon6:c.A526C:p.R176R exonic ENSG00000112164 NA synonymous SNV ENSG00000112164:ENST00000373256:exon6:c.A526C:p.R176R Score=619;Name=lod=436 NA 6p21.2 NA NA NA NA rs2235868 0.45 0.45 0.409 0.445288 0.5209 0.4444 0.536 0.3147 0.4806 0.51 0.45 0.52 0.32 0.487 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37327 1.37327 NA 0.522907 0.346573 ID=COSM150087;OCCURENCE=1(stomach) 0.529 NA 5.1358596 1138 17 61901439 61901439 T C intronic FTSJ3 NA NA NA intronic ENSG00000108592 NA NA NA Score=522;Name=lod=177 NA 17q23.3 Score=894;Name=V$AREB6_02 Name=ZNF263 NA NA rs2584627 0.68 0.68 0.701 0.732428 0.5984 0.5556 0.6816 0.9781 0.7566 0.6 0.58 0.64 0.97 0.6598 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372627 NA NA 0.606512 0.910803 NA 0.681 NA 5.135288 1138 14 95921741 95921741 C T exonic SYNE3 NA synonymous SNV SYNE3:NM_152592:exon5:c.G1110A:p.E370E exonic ENSG00000176438 NA synonymous SNV ENSG00000176438:ENST00000554873:exon1:c.G381A:p.E127E,ENSG00000176438:ENST00000334258:exon5:c.G1110A:p.E370E,ENSG00000176438:ENST00000553340:exon5:c.G1110A:p.E370E,ENSG00000176438:ENST00000557275:exon5:c.G1110A:p.E370E Score=410;Name=lod=62 NA 14q32.13 NA NA NA NA rs4905324 0.48 0.48 0.437 0.455272 0.501 0.5516 0.6542 0.2133 0.4949 0.51 0.57 0.63 0.22 0.5222 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081335 NA NA 0.508256 0.268724 ID=COSM1477888,COSM433558,COSM1477887;OCCURENCE=1(breast) 0.514 NA 5.1352106 1139 13 21894947 21894947 C T ncRNA_intronic MIPEPP3 NA NA NA ncRNA_exonic ENSG00000215571 NA NA NA Score=699;Name=lod=922 NA 13q12.11 NA NA NA NA rs9580079 0.41 0.41 0.411 0.415136 0.5318 0.3165 0.3588 0.3646 0.5051 0.53 0.31 0.4 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808319 NA NA NA NA NA 0.464 NA 5.1348666 1139 19 15852223 15852223 A C exonic OR10H3 NA nonsynonymous SNV OR10H3:NM_013938:exon1:c.A21C:p.R7S exonic ENSG00000171936 NA nonsynonymous SNV ENSG00000171936:ENST00000305892:exon1:c.A21C:p.R7S NA NA 19p13.12 NA NA NA NA rs1966357 0.65 0.65 0.652 0.65595 0.7624 0.3323 0.598 0.8064 0.7178 0.77 0.35 0.65 0.82 0.702 0.82 0.39 T 0.0 B 0.0 B 0.036 N 1.000 P -2.205 N 5.15 T -1.057 T 0.000 T 0.012 0.154 4.831 -1.7 -0.391 -0.234 3.041 0.154468 NA 0.65 0.735 0.803904 ID=COSM1179781;OCCURENCE=2(prostate),1(large_intestine) 0.681 NA 5.1339334 1139 1 224849358 224849358 C T intronic CNIH3 NA NA NA ncRNA_exonic ENSG00000234247 NA NA NA Score=505;Name=lod=151 NA 1q42.12 NA NA NA NA rs7554310 0.25 0.25 0.225 0.244209 0.1998 0.3353 0.3473 0.174 0.2178 0.22 0.35 0.32 0.15 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399859 NA NA NA NA NA 0.167 NA 5.1335333 1139 8 62491628 62491628 A G intronic ASPH NA NA NA ncRNA_exonic ENSG00000254285 NA NA NA Score=533;Name=lod=196 NA 8q12.3 NA NA NA NA rs7836217 0.32 0.32 0.312 0.353235 0.1998 0.3105 0.2406 0.5726 0.3384 0.19 0.34 0.24 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144929 NA NA NA NA NA 0.42 NA 5.1335333 1139 12 69036611 69036611 C A intronic RAP1B NA NA NA ncRNA_exonic ENSG00000234925 NA NA NA Score=637;Name=lod=518 NA 12q15 NA NA NA NA rs3814238 0.18 0.18 0.181 0.215855 0.1998 0.2659 0.1398 0.0469 0.4632 0.19 0.28 0.14 0.08 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226534 NA NA NA NA NA 0.21 NA 5.1335333 1139 1 152325732 152325732 G A exonic FLG2 NA synonymous SNV FLG2:NM_001014342:exon3:c.C4530T:p.H1510H exonic ENSG00000143520 NA synonymous SNV ENSG00000143520:ENST00000388718:exon3:c.C4530T:p.H1510H NA NA 1q21.3 NA NA NA NA rs12022217 0.3 0.3 0.281 0.316494 0.1421 0.4534 0.4049 0.2905 0.3272 0.14 0.49 0.34 0.29 0.2322 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291107 NA NA 0.158953 0.260781 NA 0.275 NA 5.1334136 1139 1 161185058 161185058 G T upstream;downstream FCER1G;NDUFS2 NA NA NA upstream;downstream ENSG00000158869;ENSG00000158864 NA NA NA NA NA 1q23.3 NA Name=Max Name=7 NA rs2070901 0.37 0.37 0.368 0.390775 0.2694 0.4464 0.366 0.4334 0.4182 0.26 0.46 0.34 0.45 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819972 NA NA 0.264299 0.395954 NA 0.355 NA 5.1329676 1139 15 34032131 34032131 G A exonic RYR3 NA synonymous SNV RYR3:NM_001036:exon51:c.G7755A:p.T2585T,RYR3:NM_001243996:exon51:c.G7755A:p.T2585T exonic ENSG00000198838 NA synonymous SNV ENSG00000198838:ENST00000389232:exon51:c.G7755A:p.T2585T,ENSG00000198838:ENST00000415757:exon51:c.G7755A:p.T2585T NA NA 15q14 NA NA NA NA rs41279212 0.21 0.21 0.207 0.234026 0.1839 0.1647 0.1787 0.2988 0.3088 0.16 0.18 0.19 0.34 0.1889 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484809 NA NA 0.160935 0.250771 NA 0.283 NA 5.1329316 1139 18 32887914 32887914 A G ncRNA_exonic ZNF271 NA NA NA ncRNA_exonic ENSG00000257267 NA NA NA Score=317;Name=lod=26 NA 18q12.2 NA NA NA NA rs1131709 0.48 0.48 0.51 0.488618 0.5338 0.372 0.4553 0.5666 0.4806 0.51 0.4 0.44 0.55 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.824806 1.824806 NA NA NA NA 0.507 NA 5.1328666 1139 6 170068180 170068180 A G exonic WDR27 NA synonymous SNV WDR27:NM_182552:exon5:c.T558C:p.V186V exonic ENSG00000184465 NA synonymous SNV ENSG00000184465:ENST00000333572:exon5:c.T558C:p.V186V,ENSG00000184465:ENST00000448612:exon5:c.T558C:p.V186V NA NA 6q27 NA NA NA NA rs3823465 0.33 0.33 0.302 0.318291 0.162 0.7093 0.3343 0.1899 0.2382 0.17 0.71 0.3 0.18 0.2322 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517669 NA NA 0.140453 0.174743 NA 0.21 NA 5.1320136 1139 1 12638964 12638964 T C exonic DHRS3 NA synonymous SNV DHRS3:NM_004753:exon4:c.A480G:p.P160P exonic ENSG00000162496 NA synonymous SNV ENSG00000162496:ENST00000376223:exon4:c.A480G:p.P160P,ENSG00000162496:ENST00000430996:exon4:c.A225G:p.P75P NA NA 1p36.22 Score=795;Name=V$PAX2_01 Name=Pol2 NA NA rs2275875 0.78 0.78 0.797 0.804712 0.8469 0.7282 0.7291 0.8011 0.8988 0.84 0.74 0.76 0.76 0.8314 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443461 NA NA 0.856395 0.827508 NA 0.754 NA 5.1319716 1139 19 6669934 6669934 G A exonic TNFSF14 NA synonymous SNV TNFSF14:NM_003807:exon2:c.C147T:p.A49A exonic ENSG00000125735 NA synonymous SNV ENSG00000125735:ENST00000599359:exon2:c.C147T:p.A49A NA NA 19p13.3 NA NA NA NA rs2291668 0.22 0.22 0.21 0.176318 0.1958 0.2788 0.2248 0.0983 0.1217 0.2 0.32 0.23 0.12 0.1806 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562276 NA NA 0.158372 0.111212 NA 0.21 NA 5.1318946 1139 17 25749545 25749545 C T ncRNA_intronic TBC1D3P5 NA NA NA ncRNA_intronic ENSG00000266433 NA NA NA Score=278;Name=lod=18 NA 17q11.1 NA NA NA NA rs4795650 0.59 0.59 0.596 0.553115 0.5348 0.6776 0.4539 0.5734 0.4867 0.56 0.68 0.47 0.62 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281354 NA NA NA NA NA 0.623 NA 5.1318666 1139 17 25749688 25749688 G A ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA Score=491;Name=lod=132 NA 17q11.1 NA NA NA NA rs4795651 0.59 0.59 0.602 0.553115 0.5348 0.6776 0.4539 0.5734 0.4867 0.56 0.68 0.47 0.62 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014023 NA NA NA NA NA 0.623 NA 5.1318666 1139 6 151256680 151256680 G A intronic MTHFD1L NA NA NA ncRNA_exonic ENSG00000218996 NA NA NA Score=735;Name=lod=1296 NA 6q25.1 NA NA NA NA rs6557103 0.16 0.16 0.18 0.171725 0.2018 0.0198 0.1254 0.2496 0.2249 0.2 0.01 0.14 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073122 NA NA NA NA NA 0.196 NA 5.1315333 1139 10 18828371 18828371 C T exonic CACNB2 NA synonymous SNV CACNB2:NM_000724:exon13:c.C1536T:p.Y512Y,CACNB2:NM_201570:exon13:c.C1557T:p.Y519Y,CACNB2:NM_201590:exon13:c.C1539T:p.Y513Y,CACNB2:NM_001167945:exon14:c.C1503T:p.Y501Y,CACNB2:NM_201571:exon14:c.C1617T:p.Y539Y,CACNB2:NM_201572:exon14:c.C1545T:p.Y515Y,CACNB2:NM_201593:exon14:c.C1587T:p.Y529Y,CACNB2:NM_201596:exon14:c.C1701T:p.Y567Y,CACNB2:NM_201597:exon14:c.C1629T:p.Y543Y exonic ENSG00000165995 NA synonymous SNV ENSG00000165995:ENST00000377328:exon7:c.C951T:p.Y317Y,ENSG00000165995:ENST00000377315:exon13:c.C1557T:p.Y519Y,ENSG00000165995:ENST00000377319:exon13:c.C1422T:p.Y474Y,ENSG00000165995:ENST00000377329:exon13:c.C1539T:p.Y513Y,ENSG00000165995:ENST00000396576:exon13:c.C1536T:p.Y512Y,ENSG00000165995:ENST00000282343:exon14:c.C1617T:p.Y539Y,ENSG00000165995:ENST00000324631:exon14:c.C1701T:p.Y567Y,ENSG00000165995:ENST00000352115:exon14:c.C1629T:p.Y543Y,ENSG00000165995:ENST00000377331:exon14:c.C1545T:p.Y515Y NA NA 10p12.31 NA NA NA NA rs2228645 0.22 0.22 0.201 0.23722 0.161 0.2381 0.3314 0.1899 0.3119 0.18 0.26 0.31 0.16 0.2129 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.624471 NA NA 0.161512 0.208806 ID=COSM146899;OCCURENCE=1(stomach) 0.159 NA 5.1312546 1139 20 61981134 61981134 G A exonic CHRNA4 NA synonymous SNV CHRNA4:NM_000744:exon5:c.C1629T:p.S543S,CHRNA4:NM_001256573:exon5:c.C1101T:p.S367S exonic ENSG00000101204 NA synonymous SNV ENSG00000101204:ENST00000370263:exon5:c.C1629T:p.S543S NA NA 20q13.33 NA NA NA NA rs1044396 0.36 0.36 0.327 0.323482 0.5288 0.2679 0.4899 0.0613 0.4059 0.53 0.29 0.5 0.07 0.4659 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283058 NA NA 0.54094 0.14925 NA 0.362 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079313.3;CLNDSDB=.;CLNDSDBID=. 5.1310266 1139 7 66785029 66785029 G T ncRNA_intronic STAG3L4 NA NA NA ncRNA_intronic ENSG00000106610 NA NA NA Score=501;Name=lod=145 NA 7q11.21 NA NA NA NA rs2537522 0.46 0.46 0.425 0.449681 0.5358 0.3393 0.5389 0.4266 0.4427 0.52 0.38 0.5 0.42 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742543 NA NA NA NA NA 0.529 NA 5.1308666 1139 19 55485899 55485899 G A exonic NLRP2 NA synonymous SNV NLRP2:NM_001174081:exon3:c.G312A:p.K104K,NLRP2:NM_001174082:exon3:c.G312A:p.K104K,NLRP2:NM_017852:exon3:c.G312A:p.K104K,NLRP2:NM_001174083:exon4:c.G243A:p.K81K exonic ENSG00000022556 NA synonymous SNV ENSG00000022556:ENST00000397169:exon2:c.G108A:p.K36K,ENSG00000022556:ENST00000263437:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000339757:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000391721:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000433772:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000448584:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000537859:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000538819:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000539848:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000543010:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000585500:exon3:c.G105A:p.K35K,ENSG00000022556:ENST00000588107:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000588619:exon3:c.G312A:p.K104K,ENSG00000022556:ENST00000427260:exon4:c.G243A:p.K81K NA NA 19q13.42 NA NA NA NA rs2217659 0.21 0.21 0.219 0.177117 0.1779 0.3512 0.1542 0.093 0.1268 0.17 0.41 0.14 0.1 0.1806 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785693 NA NA 0.177326 0.113987 NA 0.196 NA 5.1308406 1139 1 200956288 200956288 A G exonic KIF21B NA synonymous SNV KIF21B:NM_001252100:exon25:c.T3450C:p.A1150A,KIF21B:NM_001252102:exon25:c.T3450C:p.A1150A,KIF21B:NM_001252103:exon25:c.T3450C:p.A1150A,KIF21B:NM_017596:exon25:c.T3450C:p.A1150A exonic ENSG00000116852 NA synonymous SNV ENSG00000116852:ENST00000332129:exon25:c.T3450C:p.A1150A,ENSG00000116852:ENST00000360529:exon25:c.T3450C:p.A1150A,ENSG00000116852:ENST00000422435:exon25:c.T3450C:p.A1150A,ENSG00000116852:ENST00000461742:exon25:c.T3450C:p.A1150A NA NA 1q32.1 NA NA NA NA rs2275485 0.26 0.26 0.264 0.261981 0.1541 0.2897 0.2032 0.4531 0.1278 0.16 0.31 0.17 0.41 0.203 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123018 NA NA 0.178837 0.42374 NA 0.232 NA 5.1307296 1139 1 179310439 179310439 C T exonic SOAT1 NA synonymous SNV SOAT1:NM_001252511:exon6:c.C600T:p.F200F,SOAT1:NM_001252512:exon6:c.C579T:p.F193F,SOAT1:NM_003101:exon7:c.C774T:p.F258F exonic ENSG00000057252 NA synonymous SNV ENSG00000057252:ENST00000539888:exon6:c.C579T:p.F193F,ENSG00000057252:ENST00000540564:exon6:c.C600T:p.F200F,ENSG00000057252:ENST00000367619:exon7:c.C774T:p.F258F,ENSG00000057252:ENST00000426956:exon7:c.C774T:p.F258F NA NA 1q25.2 NA NA NA NA rs7547733 0.09 0.09 0.072 0.0660942 0.2087 NA 0.1167 0.0061 0.0327 0.18 NA 0.14 0.01 0.1315 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569894 NA NA 0.19586 0.040626 NA 0.065 NA 5.1306066 1139 6 162989457 162989457 T C intronic PARK2 NA NA NA ncRNA_exonic ENSG00000227913 NA NA NA Score=325;Name=lod=28 NA 6q26 NA NA NA NA rs28578538 0.27 0.27 0.232 0.251597 0.2028 0.494 0.2161 0.115 0.2618 0.2 0.51 0.24 0.11 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014249 NA NA NA NA NA 0.196 NA 5.1305333 1139 22 23632636 23632636 C A intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA Name=CTCF,ZNF263,HDAC2_(SC-6296) Name=91 NA rs5759683 0.24 0.24 0.256 0.238818 0.3002 0.0873 0.2983 0.2685 0.2495 0.31 0.1 0.28 0.28 0.2703 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811444 NA NA 0.299535 0.253972 NA 0.268 NA 5.129965 1139 17 25753587 25753587 C T ncRNA_splicing TBC1D3P5 NR_033892:exon11:c.1595+2C>T NA NA ncRNA_splicing ENSG00000266433 ENST00000586223:exon11:c.1595+2C>T NA NA Score=536;Name=lod=202 NA 17q11.1 NA NA NA NA rs1993829 0.6 0.6 0.59 0.577676 0.5368 0.6845 0.4582 0.6498 0.4969 0.56 0.69 0.47 0.65 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952533 NA NA NA NA NA 0.623 NA 5.1298666 1139 17 25756158 25756158 T C ncRNA_intronic TBC1D3P5 NA NA NA ncRNA_intronic ENSG00000266433 NA NA NA Score=289;Name=lod=20 NA 17q11.1 NA NA NA NA rs7220478 NA NA 0.563 0.577676 0.5368 0.6835 0.4582 0.6505 0.4969 NA NA NA NA NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055357 NA NA NA NA NA 0.623 NA 5.1298666 1139 17 25756180 25756180 G A ncRNA_intronic TBC1D3P5 NA NA NA ncRNA_intronic ENSG00000266433 NA NA NA Score=289;Name=lod=20 NA 17q11.1 NA NA NA NA rs7212046 0.58 0.58 0.551 0.582867 0.5368 0.6835 0.4582 0.6702 0.4969 0.55 0.65 0.45 0.63 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.183739 NA NA NA NA NA 0.623 NA 5.1298666 1139 13 21894803 21894803 T C ncRNA_intronic MIPEPP3 NA NA NA ncRNA_exonic ENSG00000215571 NA NA NA Score=699;Name=lod=922 NA 13q12.11 NA NA NA NA rs9580077 NA NA 0.343 0.429912 0.5378 0.3165 0.366 0.4123 0.5051 NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090898 NA NA NA NA NA 0.464 NA 5.1288666 1139 13 21894824 21894824 G C ncRNA_intronic MIPEPP3 NA NA NA ncRNA_exonic ENSG00000215571 NA NA NA Score=699;Name=lod=922 NA 13q12.11 NA NA NA NA rs9580078 0.43 0.43 0.414 0.434904 0.5378 0.3264 0.366 0.4168 0.5143 0.54 0.33 0.41 0.42 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604721 NA NA NA NA NA 0.471 NA 5.1288666 1139 1 19029546 19029546 A G intronic PAX7 NA NA NA intronic ENSG00000009709 NA NA NA NA NA 1p36.13 NA Name=CTCF,CTCF_(SC-5916),Rad21 Name=6 NA rs1416464 0.44 0.44 0.427 0.489816 0.2575 0.6071 0.3876 0.6445 0.4714 0.26 0.57 0.38 0.62 0.3694 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023845 NA NA 0.244518 0.564516 NA 0.37 NA 5.128582 1139 16 19492898 19492898 A C intronic TMC5 NA NA NA ncRNA_intronic ENSG00000260592 NA NA NA NA NA 16p12.3 NA Name=MafK_(SC-477),GATA-1,MafF_(M8194),MafK_(ab50322) NA NA rs7185836 0.52 0.52 0.466 0.47524 0.2048 0.504 0.3372 0.8185 0.3579 0.35 0.56 0.4 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142148 NA NA NA NA NA 0.558 NA 5.1285333 1139 14 106845308 106845308 A T intergenic LINC00226,LINC00221 dist=100342;dist=93147 NA NA downstream ENSG00000211957 NA NA NA NA NA 14q32.33 NA Name=CTCF Name=2 NA rs112027281 0.14 0.14 0.1 0.185304 0.1203 0.0317 0.1801 0.3351 0.2117 0.09 0.03 0.18 0.31 0.1408 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.075203 NA NA 0.11071 0.274974 NA 0.232 NA 5.12819 1139 1 15793913 15793913 G A exonic CELA2A NA synonymous SNV CELA2A:NM_033440:exon7:c.G672A:p.A224A exonic ENSG00000142615 NA synonymous SNV ENSG00000142615:ENST00000359621:exon7:c.G672A:p.A224A NA NA 1p36.21 NA NA NA NA rs1042010 0.17 0.17 0.182 0.179912 0.169 0.0446 0.1556 0.2965 0.1902 0.17 0.04 0.19 0.29 0.1828 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.82085 NA NA 0.186977 0.277349 NA 0.145 NA 5.1278896 1139 2 239141505 239141505 A G ncRNA_exonic LOC643387 NA NA NA ncRNA_intronic ENSG00000225057 NA NA NA Score=821;Name=lod=2880 NA 2q37.3 NA NA NA NA rs11689432 0.53 0.53 0.504 0.527955 0.5388 0.3472 0.4366 0.708 0.5245 0.55 0.36 0.51 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108919 NA NA NA NA NA 0.536 NA 5.1278666 1139 13 21893949 21893949 A G ncRNA_intronic MIPEPP3 NA NA NA ncRNA_exonic ENSG00000215571 NA NA NA Score=768;Name=lod=1760 NA 13q12.11 NA NA NA NA rs9580074 0.43 0.43 0.42 0.435104 0.5388 0.3264 0.366 0.4175 0.5133 0.54 0.33 0.41 0.42 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.157066 2.157066 NA NA NA NA 0.493 NA 5.1278666 1139 13 21894420 21894420 C T ncRNA_intronic MIPEPP3 NA NA NA ncRNA_exonic ENSG00000215571 NA NA NA Score=768;Name=lod=1760 NA 13q12.11 NA NA NA NA rs9580075 0.44 0.44 0.409 0.438099 0.5388 0.3403 0.366 0.4191 0.5123 0.54 0.34 0.4 0.42 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078507 NA NA NA NA NA 0.406 NA 5.1278666 1139 13 21894445 21894445 T C ncRNA_intronic MIPEPP3 NA NA NA ncRNA_exonic ENSG00000215571 NA NA NA Score=768;Name=lod=1760 NA 13q12.11 NA NA NA NA rs9580076 0.44 0.44 0.391 0.451677 0.5388 0.3165 0.3818 0.4856 0.5051 0.53 0.31 0.41 0.47 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370041 NA NA NA NA NA 0.464 NA 5.1278666 1139 20 61039958 61039958 T C exonic GATA5 NA synonymous SNV GATA5:NM_080473:exon7:c.A1128G:p.P376P exonic ENSG00000130700 NA synonymous SNV ENSG00000130700:ENST00000252997:exon7:c.A1128G:p.P376P Score=371;Name=lod=43 NA 20q13.33 NA NA NA NA rs6061550 0.56 0.56 0.555 0.629193 0.4791 0.5238 0.451 0.8442 0.728 0.47 0.55 0.43 0.8 0.5504 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304461 NA NA 0.509423 0.778484 NA 0.507 NA 5.1277436 1139 5 9154659 9154659 G C exonic SEMA5A NA synonymous SNV SEMA5A:NM_003966:exon12:c.C1422G:p.G474G exonic ENSG00000112902 NA synonymous SNV ENSG00000112902:ENST00000382496:exon12:c.C1422G:p.G474G Score=597;Name=lod=356 NA 5p15.31 NA NA NA NA rs1806151 0.32 0.32 0.291 0.273962 0.5676 0.2312 0.3199 0.0371 0.3037 0.56 0.22 0.35 0.06 0.4224 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.310222 1.310222 NA 0.549767 0.114843 NA 0.326 NA 5.1268996 1139 6 90408589 90408589 A G exonic MDN1 NA synonymous SNV MDN1:NM_014611:exon59:c.T9163C:p.L3055L exonic ENSG00000112159 NA synonymous SNV ENSG00000112159:ENST00000369393:exon59:c.T9163C:p.L3055L,ENSG00000112159:ENST00000428876:exon59:c.T9163C:p.L3055L NA NA 6q15 NA NA NA NA rs3736984 0.11 0.11 0.105 0.153754 0.1869 0.0813 0.1225 0.0779 0.319 0.17 0.07 0.11 0.08 0.1732 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777751 NA NA 0.179884 0.087154 NA 0.159 NA 5.1266826 1139 2 132201862 132201862 C G ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=565;Name=lod=263 NA 2q21.1 NA NA NA NA rs1806887 0.39 0.39 0.3 0.38758 0.2326 0.7589 0.5259 0.2035 0.3149 0.23 0.73 0.45 0.22 0.3084 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036075 NA NA NA NA NA 0.297 NA 5.1256666 1139 2 132201930 132201930 T C ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=565;Name=lod=263 NA 2q21.1 NA NA NA NA rs13411254 0.36 0.36 0.294 0.38758 0.2326 0.7589 0.5259 0.2035 0.3149 0.21 0.67 0.41 0.19 0.3085 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129601 NA NA NA NA NA 0.29 NA 5.1255666 1139 9 92065482 92065482 C T intronic SEMA4D NA NA NA ncRNA_exonic ENSG00000231799 NA NA NA Score=737;Name=lod=1314 NA 9q22.2 NA NA NA NA rs36064343 0.11 0.11 0.094 0.104433 0.2078 0.003 0.1369 0.0091 0.2086 0.23 0.0035 0.12 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238366 NA NA NA NA NA 0.109 NA 5.1255333 1140 2 51056712 51056712 C A intronic NRXN1 NA NA NA ncRNA_exonic ENSG00000238165 NA NA NA Score=582;Name=lod=310 NA 2p16.3 NA NA NA NA rs72889466 0.15 0.15 0.094 0.122604 0.2087 0.1389 0.1427 0.0567 0.092 0.21 0.15 0.14 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852108 NA NA NA NA NA 0.167 NA 5.1246333 1140 2 132202050 132202050 T C ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=403;Name=lod=58 NA 2q21.1 NA NA NA NA rs13413908 0.39 0.39 0.323 0.38758 0.2326 0.7589 0.5259 0.2035 0.3149 0.23 0.72 0.45 0.22 0.3098 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039578 NA NA NA NA NA 0.29 NA 5.1242666 1140 19 41945837 41945837 T A UTR5 ATP5SL NM_018035:c.-33A>T,NM_001167871:c.-33A>T,NM_001167870:c.-33A>T,NM_001167869:c.-33A>T NA NA UTR5 ENSG00000105341 ENST00000592922:c.-33A>T NA NA NA NA 19q13.2 NA Name=GABP,Znf143_(16618-1-AP),E2F6_(H-50),TAF1,YY1_(C-20),Pol2(phosphoS2),Mxi1_(bHLH),SP1,Pol2,Rad21,ELF1_(SC-631),CEBPB,GTF2F1_(RAP-74),CTCF,Pol2(b),Pol2-4H8,KAP1,ZNF263,HA-E2F1,Egr-1,YY1,RFX5_(N-494),PAX5-C20,HEY1,NFKB,c-Myc,IRF1,TBP,USF-1 Name=148 NA rs13346603 0.41 0.41 0.386 0.393171 0.4066 0.5635 0.5144 0.1899 0.3926 0.42 0.54 0.43 0.22 0.4066 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163511 NA NA 0.39593 0.237631 NA 0.355 NA 5.1242034 1140 15 40590134 40590134 G A exonic PLCB2 NA synonymous SNV PLCB2:NM_004573:exon12:c.C1182T:p.S394S exonic ENSG00000137841 NA synonymous SNV ENSG00000137841:ENST00000260402:exon12:c.C1182T:p.S394S,ENSG00000137841:ENST00000456256:exon12:c.C1182T:p.S394S,ENSG00000137841:ENST00000557821:exon12:c.C1182T:p.S394S,ENSG00000137841:ENST00000558588:exon12:c.C1182T:p.S394S Score=524;Name=lod=179 NA 15q15.1 NA NA NA NA rs2229690 0.68 0.68 0.677 0.690495 0.4742 0.7887 0.6744 0.8298 0.635 0.49 0.84 0.63 0.84 0.5818 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858808 NA NA 0.486493 0.780857 ID=COSM1158649;OCCURENCE=1(pancreas) 0.696 NA 5.1241736 1140 14 20770036 20770036 T C exonic TTC5 NA nonsynonymous SNV TTC5:NM_138376:exon2:c.A140G:p.Q47R exonic ENSG00000136319 NA nonsynonymous SNV ENSG00000136319:ENST00000258821:exon2:c.A140G:p.Q47R,ENSG00000136319:ENST00000383029:exon2:c.A140G:p.Q47R NA NA 14q11.2 NA NA NA NA rs3742945 0.78 0.78 0.773 0.745607 0.7406 0.7956 0.8559 0.7579 0.6043 0.75 0.8 0.83 0.75 0.7368 0.83 0.78 T 0.0 B 0.0 B 0.072 N 1.000 P -0.55 N 1.6 T -1.008 T 0.000 T 0.275 -1.008 0.248 0.384 -0.367 -0.336 8.813 -1.008434 NA 0.69 0.73186 0.747617 ID=COSM1179594;OCCURENCE=1(prostate) 0.746 NA 5.1240734 1140 6 74320306 74320306 C T intronic SLC17A5 NA NA NA intronic ENSG00000119899 NA NA NA NA NA 6q13 NA Name=CTCF,Rad21,CTCF_(C-20),RFX5_(N-494),SMC3_(ab9263) Name=130 NA rs4708065 0.24 0.24 0.247 0.238419 0.3072 0.0208 0.1758 0.4448 0.1575 0.31 0.02 0.17 0.42 0.2601 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221791 NA NA 0.308953 0.416931 NA 0.268 NA 5.123747 1140 5 75884734 75884734 G A exonic IQGAP2 NA synonymous SNV IQGAP2:NM_006633:exon6:c.G462A:p.L154L exonic ENSG00000145703 NA synonymous SNV ENSG00000145703:ENST00000505766:exon5:c.G312A:p.L104L,ENSG00000145703:ENST00000274364:exon6:c.G462A:p.L154L,ENSG00000145703:ENST00000514350:exon6:c.G381A:p.L127L Score=498;Name=lod=141 NA 5q13.3 NA NA NA NA rs1131232 0.64 0.64 0.644 0.696086 0.492 0.751 0.6671 0.7572 0.7873 0.5 0.76 0.62 0.75 0.5752 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433906 NA NA 0.476744 0.702678 NA 0.674 NA 5.1227226 1140 1 47040594 47040594 C T intronic MKNK1 NA NA NA UTR3 ENSG00000079277 ENST00000545730:c.*11G>A NA NA Score=734;Name=lod=1285 NA 1p33 NA NA NA NA rs55664133 0.01 0.01 0.002 0.00419329 0.0149 NA 0.0072 NA 0.001 0.02 NA 0.01 NA 0.0129 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237821 1.237821 NA 0.016163 0.002724 NA NA NA 5.1227037 1140 16 56643343 56643343 G C UTR3 MT2A NM_005953:c.*77G>C NA NA UTR3 ENSG00000125148 ENST00000245185:c.*77G>C,ENST00000561491:c.*246G>C NA NA NA NA 16q12.2 NA Name=Sin3Ak-20,Pol2(b),AP-2gamma,Pol2 NA NA rs10636 0.24 0.24 0.23 0.273962 0.2107 0.2381 0.2435 0.2731 0.3988 0.21 0.25 0.26 0.27 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580991 NA NA NA NA NA 0.413 NA 5.1226334 1140 17 46114620 46114620 C T intronic COPZ2 NA NA NA intronic ENSG00000005243 NA NA NA NA NA 17q21.32 NA Name=Pol2,SMC3_(ab9263),CTCF,Rad21,CTCF_(SC-5916),Sin3Ak-20 Name=115 NA rs12940701 0.25 0.25 0.234 0.288738 0.2823 0.2589 0.3977 0.1906 0.3814 0.26 0.26 0.32 0.18 0.3151 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783927 NA NA 0.280818 0.188316 NA 0.304 NA 5.121782 1140 12 120589064 120589064 G C exonic GCN1L1 NA synonymous SNV GCN1L1:NM_006836:exon34:c.C4194G:p.A1398A exonic ENSG00000089154 NA synonymous SNV ENSG00000089154:ENST00000300648:exon34:c.C4194G:p.A1398A NA NA 12q24.23 NA NA NA NA rs2286045 0.38 0.38 0.39 0.382388 0.1561 0.5427 0.17 0.6573 0.229 0.16 0.55 0.19 0.65 0.236 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758141 NA NA 0.153088 0.559954 ID=COSM1359331;OCCURENCE=1(large_intestine) 0.268 NA 5.1214786 1140 20 61981104 61981104 C T exonic CHRNA4 NA synonymous SNV CHRNA4:NM_000744:exon5:c.G1659A:p.A553A,CHRNA4:NM_001256573:exon5:c.G1131A:p.A377A exonic ENSG00000101204 NA synonymous SNV ENSG00000101204:ENST00000370263:exon5:c.G1659A:p.A553A NA NA 20q13.33 NA NA NA NA rs1044397 0.4 0.4 0.37 0.351837 0.5288 0.4008 0.4899 0.0635 0.411 0.53 0.42 0.5 0.07 0.475 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188258 NA NA 0.541773 0.151068 NA 0.362 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079314.3;CLNDSDB=.;CLNDSDBID=. 5.1210936 1140 1 12640650 12640650 C T exonic DHRS3 NA synonymous SNV DHRS3:NM_004753:exon2:c.G240A:p.T80T exonic ENSG00000162496 NA synonymous SNV ENSG00000162496:ENST00000376223:exon2:c.G240A:p.T80T NA NA 1p36.22 NA NA NA NA rs11540058 0.1 0.1 0.099 0.0796725 0.1918 0.002 0.0764 0.0446 0.0941 0.2 0.0035 0.09 0.04 0.1471 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069925 NA NA 0.207093 0.066727 NA 0.203 NA 5.1206736 1140 2 202003010 202003010 T C intronic CFLAR NA NA NA ncRNA_exonic ENSG00000232133 NA NA NA Score=842;Name=lod=3519 NA 2q33.1 NA NA NA NA rs7560613 0.2 0.2 0.2 0.200879 0.2127 0.0149 0.1513 0.4327 0.1022 0.21 0.01 0.18 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109076 NA NA NA NA NA 0.268 NA 5.1206333 1140 11 116906728 116906728 T C intronic SIK3 NA NA NA ncRNA_exonic ENSG00000234268 NA NA NA Score=696;Name=lod=898 NA 11q23.3 NA NA NA NA rs4938327 0.3 0.3 0.274 0.350639 0.2127 0.1905 0.3256 0.5703 0.3783 0.2 0.21 0.29 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135367 NA NA NA NA NA 0.225 NA 5.1206333 1140 18 28721882 28721882 T C intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA Name=3 NA rs12455973 0.37 0.37 0.375 0.345647 0.2127 0.5665 0.3746 0.4115 0.1452 0.2 0.57 0.35 0.4 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335146 1.335146 NA NA NA ID=COSN165628;OCCURENCE=1(breast) 0.246 NA 5.1206333 1140 1 29542926 29542926 A T intronic MECR NA NA NA intronic ENSG00000116353 NA NA NA Score=265;Name=lod=16 NA 1p35.3 NA NA Name=22 NA rs3003636 0.74 0.74 0.72 0.718051 0.8797 0.5625 0.7334 0.7231 0.6943 0.88 0.54 0.77 0.73 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.743789 1.743789 NA NA NA NA 0.732 NA 5.1203 1140 16 72135014 72135014 T C exonic DHX38 NA synonymous SNV DHX38:NM_014003:exon10:c.T1308C:p.A436A exonic ENSG00000140829 NA synonymous SNV ENSG00000140829:ENST00000268482:exon10:c.T1308C:p.A436A Score=540;Name=lod=208 NA 16q22.2 NA NA NA NA rs1050363 0.52 0.52 0.554 0.557907 0.5 0.3591 0.3963 0.823 0.5787 0.5 0.38 0.43 0.8 0.5172 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.4857 1.4857 NA 0.529767 0.75364 ID=COSM148115;OCCURENCE=1(stomach) 0.551 NA 5.1196996 1140 16 75327916 75327916 A G exonic CFDP1 NA synonymous SNV CFDP1:NM_006324:exon7:c.T834C:p.L278L exonic ENSG00000153774 NA synonymous SNV ENSG00000153774:ENST00000283882:exon7:c.T834C:p.L278L Score=601;Name=lod=368 NA 16q23.1 NA NA Name=30 NA rs6624 0.76 0.76 0.755 0.785942 0.8469 0.6002 0.8991 0.7821 0.8395 0.85 0.57 0.86 0.78 0.8427 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170588 NA NA 0.857907 0.789126 NA 0.746 NA 5.1191596 1140 12 42481732 42481732 G A exonic GXYLT1 NA synonymous SNV GXYLT1:NM_001099650:exon7:c.C1086T:p.D362D,GXYLT1:NM_173601:exon8:c.C1179T:p.D393D exonic ENSG00000151233 NA synonymous SNV ENSG00000151233:ENST00000280876:exon7:c.C1086T:p.D362D,ENSG00000151233:ENST00000398675:exon8:c.C1179T:p.D393D NA NA 12q12 NA NA NA NA rs7972986 0.18 0.18 0.179 0.186102 0.1879 0.1597 0.2435 0.1498 0.2198 0.16 0.17 0.25 0.16 0.1831 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.580669 NA NA 0.176521 0.157319 NA 0.159 NA 5.1191456 1140 8 139164570 139164570 C T exonic FAM135B NA synonymous SNV FAM135B:NM_015912:exon13:c.G2148A:p.P716P exonic ENSG00000147724 NA synonymous SNV ENSG00000147724:ENST00000467365:exon1:c.G78A:p.P26P,ENSG00000147724:ENST00000276737:exon13:c.G2148A:p.P716P,ENSG00000147724:ENST00000395297:exon13:c.G2148A:p.P716P NA NA 8q24.23 NA NA NA NA rs3750307 0.2 0.2 0.21 0.213658 0.173 0.2321 0.1931 0.2057 0.2618 0.16 0.23 0.2 0.22 0.1923 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801137 NA NA 0.182268 0.192581 ID=COSM1455065,COSM1455064;OCCURENCE=1(large_intestine) 0.326 NA 5.1190986 1140 9 33026572 33026572 T C exonic DNAJA1 NA synonymous SNV DNAJA1:NM_001539:exon2:c.T90C:p.A30A exonic ENSG00000086061 NA synonymous SNV ENSG00000086061:ENST00000330899:exon2:c.T90C:p.A30A Score=680;Name=lod=771 NA 9p21.1 NA NA NA NA rs20583 0.6 0.6 0.627 0.597843 0.5119 0.5744 0.4784 0.857 0.4448 0.51 0.56 0.5 0.86 0.5191 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.64766 1.64766 NA 0.516628 0.793463 NA 0.674 NA 5.1190386 1140 4 104062223 104062223 C T exonic CENPE NA synonymous SNV CENPE:NM_001813:exon36:c.G5502A:p.T1834T exonic ENSG00000138778 NA synonymous SNV ENSG00000138778:ENST00000380026:exon35:c.G5427A:p.T1809T,ENSG00000138778:ENST00000265148:exon36:c.G5502A:p.T1834T NA NA 4q24 NA NA NA NA rs1381658 0.14 0.14 0.132 0.169129 0.1779 0.1548 0.1916 0.0431 0.3292 0.17 0.14 0.19 0.05 0.1909 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238617 NA NA 0.179045 0.062926 NA 0.239 NA 5.1188216 1140 2 202003170 202003170 A G intronic CFLAR NA NA NA ncRNA_exonic ENSG00000232133 NA NA NA Score=842;Name=lod=3519 NA 2q33.1 NA NA NA NA rs7573256 0.21 0.21 0.23 0.21226 0.2147 0.0139 0.1499 0.4758 0.1022 0.21 0.01 0.18 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069749 NA NA NA NA NA 0.275 NA 5.1186333 1140 6 151256450 151256450 C T intronic MTHFD1L NA NA NA ncRNA_exonic ENSG00000218996 NA NA NA Score=735;Name=lod=1296 NA 6q25.1 NA NA NA NA rs61748005 0.17 0.17 0.154 0.179712 0.2157 0.0308 0.1369 0.2496 0.2321 0.22 0.02 0.14 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175975 NA NA NA NA NA 0.123 NA 5.1176333 1140 19 15839459 15839459 G A exonic OR10H2 NA synonymous SNV OR10H2:NM_013939:exon1:c.G606A:p.L202L exonic ENSG00000171942 NA synonymous SNV ENSG00000171942:ENST00000305899:exon1:c.G606A:p.L202L NA NA 19p13.12 NA NA NA NA rs11669315 0.14 0.14 0.141 0.152556 0.17 0.123 0.121 0.1278 0.2209 0.17 0.14 0.11 0.13 0.1873 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.660327 NA NA 0.192093 0.138901 NA 0.123 NA 5.1172736 1140 15 90231470 90231470 G A intronic PEX11A NA NA NA ncRNA_exonic ENSG00000241362 NA NA NA Score=694;Name=lod=881 NA 15q26.1 NA NA NA NA rs1837774 0.14 0.14 0.139 0.146565 0.2167 0.001 0.1297 0.1868 0.182 0.21 0.0017 0.15 0.19 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142976 NA NA NA NA NA 0.239 NA 5.1166333 1140 1 153004983 153004983 C T exonic SPRR1B NA synonymous SNV SPRR1B:NM_003125:exon2:c.C162T:p.P54P exonic ENSG00000169469 NA synonymous SNV ENSG00000169469:ENST00000307098:exon2:c.C162T:p.P54P Score=409;Name=lod=61 NA 1q21.3 NA NA NA NA rs12195 0.52 0.52 0.486 0.497604 0.5179 0.5923 0.4265 0.441 0.5061 0.51 0.62 0.46 0.46 0.5094 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.487893 1.487893 NA 0.522801 0.471176 NA 0.442 NA 5.1165656 1140 19 44418343 44418343 C T exonic ZNF45 NA synonymous SNV ZNF45:NM_003425:exon10:c.G1245A:p.P415P exonic ENSG00000124459 NA synonymous SNV ENSG00000124459:ENST00000589703:exon4:c.G1245A:p.P415P,ENSG00000124459:ENST00000269973:exon10:c.G1245A:p.P415P NA NA 19q13.31 NA Name=SETDB1 NA NA rs406968 0.57 0.57 0.556 0.52496 0.5169 0.7996 0.647 0.3343 0.4213 0.51 0.82 0.58 0.38 0.5275 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456416 NA NA 0.506047 0.358829 ID=COSM1394342;OCCURENCE=1(large_intestine) 0.5 NA 5.1162196 1140 6 29910522 29910522 G C intronic HLA-A NA NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=CTCF,Pol2-4H8,Pol2 Name=11 NA rs9260130 0.64 0.64 0.502 0.688498 0.6412 0.6925 0.7824 0.7231 0.6196 0.57 0.69 0.7 0.66 0.5763 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468788 NA NA NA NA NA 0.522 NA 5.1158333 1140 1 78276977 78276977 G A intronic FAM73A NA NA NA ncRNA_exonic ENSG00000219201 NA NA NA Score=502;Name=lod=146 NA 1p31.1 NA NA NA NA rs4121165 0.25 0.25 0.231 0.207867 0.2177 0.4167 0.1585 0.177 0.0593 0.21 0.43 0.17 0.18 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07581 NA NA NA NA NA 0.21 NA 5.1156333 1140 15 58723675 58723675 C T upstream LIPC NA NA NA intronic ENSG00000128918,ENSG00000166035 NA NA NA NA Name=HDL cholesterol 15q21.3 NA Name=FOXA1_(C-20),FOXA1_(SC-101058),FOXA2_(SC-6554) NA NA rs1800588 0.36 0.36 0.371 0.386382 0.2087 0.3998 0.4222 0.5598 0.2955 0.21 0.41 0.39 0.53 0.2919 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468088 NA NA 0.217228 0.474315 NA 0.384 NA 5.1155053 1140 19 44418544 44418544 A G exonic ZNF45 NA synonymous SNV ZNF45:NM_003425:exon10:c.T1044C:p.N348N exonic ENSG00000124459 NA synonymous SNV ENSG00000124459:ENST00000589703:exon4:c.T1044C:p.N348N,ENSG00000124459:ENST00000269973:exon10:c.T1044C:p.N348N NA NA 19q13.31 NA Name=SETDB1 NA NA rs425221 0.57 0.57 0.548 0.525559 0.5169 0.7996 0.6499 0.3343 0.4223 0.51 0.82 0.58 0.38 0.5282 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267832 NA NA 0.506163 0.358602 NA 0.5 NA 5.1154036 1140 17 19247075 19247075 G A exonic B9D1 NA nonsynonymous SNV B9D1:NM_001243473:exon6:c.C559T:p.H187Y exonic ENSG00000108641 NA nonsynonymous SNV ENSG00000108641:ENST00000477478:exon6:c.C427T:p.H143Y NA NA 17p11.2 NA NA Name=8 NA rs4924987 0.4 0.4 0.341 0.310503 0.8121 0.004 0.5173 0.0726 0.2853 0.81 NA 0.59 0.08 0.5994 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425069 NA 0.53 0.806744 0.195188 NA 0.399 NA 5.1150894 1141 1 207140440 207140440 C T exonic FCAMR NA synonymous SNV FCAMR:NM_001170631:exon3:c.G126A:p.A42A,FCAMR:NM_032029:exon3:c.G126A:p.A42A,FCAMR:NM_001122979:exon4:c.G126A:p.A42A exonic ENSG00000162897 NA synonymous SNV ENSG00000162897:ENST00000324852:exon3:c.G126A:p.A42A,ENSG00000162897:ENST00000450945:exon3:c.G126A:p.A42A,ENSG00000162897:ENST00000400962:exon4:c.G126A:p.A42A NA NA 1q32.1 NA NA NA NA rs11119933 0.26 0.26 0.261 0.236621 0.165 0.3165 0.1715 0.3797 0.0808 0.17 0.29 0.17 0.42 0.199 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018315 NA NA 0.187744 0.326531 ID=COSM146750;OCCURENCE=1(stomach) 0.333 NA 5.1149226 1141 2 132201718 132201718 T C ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=378;Name=lod=46 NA 2q21.1 NA NA NA NA rs2001215 0.36 0.36 0.294 0.38758 0.2326 0.7589 0.5259 0.2035 0.3149 0.21 0.68 0.42 0.17 0.3192 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073111 NA NA NA NA NA 0.246 NA 5.1148666 1141 7 89856608 89856608 C T exonic STEAP2 NA synonymous SNV STEAP2:NM_001244945:exon3:c.C816T:p.L272L,STEAP2:NM_152999:exon3:c.C816T:p.L272L,STEAP2:NM_001040665:exon4:c.C816T:p.L272L,STEAP2:NM_001040666:exon4:c.C816T:p.L272L,STEAP2:NM_001244944:exon4:c.C816T:p.L272L,STEAP2:NM_001244946:exon4:c.C816T:p.L272L exonic ENSG00000157214 NA synonymous SNV ENSG00000157214:ENST00000287908:exon3:c.C816T:p.L272L,ENSG00000157214:ENST00000394626:exon3:c.C816T:p.L272L,ENSG00000157214:ENST00000402625:exon3:c.C816T:p.L272L,ENSG00000157214:ENST00000394621:exon4:c.C816T:p.L272L,ENSG00000157214:ENST00000394622:exon4:c.C816T:p.L272L,ENSG00000157214:ENST00000394629:exon4:c.C816T:p.L272L,ENSG00000157214:ENST00000394632:exon4:c.C816T:p.L272L Score=490;Name=lod=131 NA 7q21.13 NA NA NA NA rs110360 0.44 0.44 0.436 0.438099 0.5119 0.2609 0.4467 0.475 0.4888 0.52 0.29 0.44 0.49 0.5104 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646656 NA NA 0.529891 0.494326 ID=COSM453529,COSM1488756;OCCURENCE=1(breast) 0.493 NA 5.1144756 1141 20 44522005 44522005 A G intronic CTSA NA NA NA ncRNA_exonic ENSG00000271984 NA NA NA NA NA 20q13.12 NA Name=USF-1,Pol2-4H8,CEBPB,USF2,USF1_(SC-8983) Name=25 NA rs742034 0.63 0.63 0.603 0.61222 0.6103 0.6756 0.7378 0.5499 0.544 0.63 0.66 0.69 0.54 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111302 NA NA 0.608737 0.572977 NA 0.645 NA 5.1142963 1141 12 116429689 116429689 A G exonic MED13L NA synonymous SNV MED13L:NM_015335:exon17:c.T3070C:p.L1024L exonic ENSG00000123066 NA synonymous SNV ENSG00000123066:ENST00000281928:exon17:c.T3070C:p.L1024L NA NA 12q24.21 NA NA NA NA rs1865787 0.15 0.15 0.145 0.155751 0.1938 0.1815 0.1297 0.0643 0.2321 0.18 0.17 0.14 0.11 0.1732 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.694602 NA NA 0.186279 0.0867 NA 0.152 NA 5.1133876 1141 19 19654117 19654117 G C exonic CILP2 NA synonymous SNV CILP2:NM_153221:exon7:c.G1038C:p.L346L exonic ENSG00000160161 NA synonymous SNV ENSG00000160161:ENST00000291495:exon7:c.G1038C:p.L346L,ENSG00000160161:ENST00000586018:exon7:c.G1056C:p.L352L NA NA 19p13.11 NA NA NA NA rs7252453 0.21 0.21 0.224 0.254992 0.173 0.0308 0.2248 0.4947 0.2679 0.16 0.03 0.22 0.5 0.2045 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017219 NA NA 0.176279 0.442578 NA 0.246 NA 5.1128876 1141 17 72349040 72349040 C T exonic KIF19 NA synonymous SNV KIF19:NM_153209:exon15:c.C2061T:p.S687S exonic ENSG00000196169 NA synonymous SNV ENSG00000196169:ENST00000389916:exon15:c.C2061T:p.S687S NA NA 17q25.1 NA NA NA NA rs9897137 0.29 0.29 0.302 0.311102 0.1819 0.0813 0.232 0.7519 0.1411 0.19 0.06 0.26 0.71 0.1983 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259577 NA NA 0.173991 0.632608 NA 0.283 NA 5.1124756 1141 19 57832214 57832214 G T UTR5 ZNF543 NM_213598:c.-8G>T NA NA UTR5 ENSG00000178229 ENST00000321545:c.-8G>T NA NA NA NA 19q13.43 NA NA Name=32 NA rs56960413 0.11 0.11 0.08 0.0874601 0.0716 0.1518 0.1297 0.0628 0.0409 0.07 0.18 0.14 0.06 0.0833 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53555 NA NA 0.066512 0.04562 NA 0.058 NA 5.1119214 1141 1 10479678 10479678 G A intronic PGD NA NA NA intronic ENSG00000142657 NA NA NA NA NA 1p36.22 NA Name=Pol2 Name=3 NA rs1889309 0.28 0.28 0.263 0.25 0.3091 0.2808 0.3213 0.1286 0.271 0.31 0.3 0.35 0.16 0.2779 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.153199 NA NA 0.301279 0.156151 ID=COSM146396;OCCURENCE=1(stomach) 0.196 NA 5.111721 1141 16 33740770 33740770 C G intergenic RNU6-76P,LINC00273 dist=177527;dist=220282 NA NA downstream ENSG00000271620 NA NA NA Score=355;Name=lod=37 NA 16p11.2 NA Name=CTCF NA NA rs2549428 NA NA 0.255 NA NA NA NA NA NA NA NA NA NA 0.3883 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325472 NA NA NA NA NA 0.029 NA 5.1117 1141 3 124376653 124376653 G A intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA Score=516;Name=lod=167 NA 3q21.2 Score=809;Name=V$HMX1_01 NA NA NA rs106520 0.4 0.4 0.369 0.362021 0.3052 0.7867 0.3905 0.1649 0.229 0.31 0.78 0.35 0.13 0.3186 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.245738 2.245738 NA 0.264535 0.169542 NA 0.246 NA 5.111665 1141 7 158476148 158476148 G A intronic NCAPG2 NA NA NA intronic ENSG00000146918 NA NA NA NA NA 7q36.3 NA Name=GR Name=2 NA rs6969248 0.87 0.87 0.864 0.88778 0.8887 0.8522 0.9524 0.851 0.9274 0.89 0.84 0.95 0.83 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389798 NA NA NA NA NA 0.877 NA 5.1113 1141 22 45767455 45767455 A G exonic SMC1B NA synonymous SNV SMC1B:NM_148674:exon14:c.T2209C:p.L737L exonic ENSG00000077935 NA synonymous SNV ENSG00000077935:ENST00000357450:exon14:c.T2209C:p.L737L,ENSG00000077935:ENST00000404354:exon14:c.T2209C:p.L737L Score=487;Name=lod=127 NA 22q13.31 NA NA NA NA rs136569 0.65 0.65 0.666 0.71226 0.506 0.7054 0.5375 0.9546 0.728 0.49 0.67 0.58 0.94 0.5694 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943605 NA NA 0.480276 0.886464 NA 0.812 NA 5.1109906 1141 5 149636073 149636073 T G intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA Name=CTCF_(SC-5916),Rad21,ZBTB7A_(SC-34508),CTCF Name=8 NA rs10463293 0.54 0.54 0.579 0.551318 0.4503 0.5645 0.438 0.6657 0.5675 0.46 0.58 0.47 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707374 NA NA 0.438718 0.613439 NA 0.652 NA 5.110982 1141 2 132201582 132201582 A G ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=423;Name=lod=70 NA 2q21.1 NA NA NA NA rs1806886 0.4 0.4 0.364 0.413938 0.2366 0.7589 0.5346 0.2958 0.3149 0.23 0.73 0.46 0.26 0.3194 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45476 NA NA NA NA NA 0.319 NA 5.1106666 1141 22 19119938 19119938 G A exonic TSSK2 NA synonymous SNV TSSK2:NM_053006:exon1:c.G1026A:p.R342R exonic ENSG00000206203 NA synonymous SNV ENSG00000206203:ENST00000399635:exon1:c.G1026A:p.R342R NA NA 22q11.21 NA NA NA NA rs1052773 0.2 0.2 0.187 0.215855 0.1809 0.1448 0.1527 0.2867 0.274 0.18 0.15 0.18 0.29 0.1934 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086977 NA 0 0.181829 0.245794 NA 0.225 NA 5.1105376 1141 2 241834944 241834944 T C exonic C2orf54 NA synonymous SNV C2orf54:NM_001085437:exon1:c.A471G:p.V157V exonic ENSG00000172478 NA synonymous SNV ENSG00000172478:ENST00000388934:exon1:c.A471G:p.V157V Score=371;Name=lod=43 NA 2q37.3 NA NA NA NA rs4468809 0.52 0.52 0.543 0.527157 0.5179 0.4405 0.3473 0.7806 0.411 0.52 0.38 0.38 0.77 0.5466 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281129 NA 0 0.491731 0.727831 NA 0.638 NA 5.1104356 1141 5 39394493 39394493 G C UTR5 DAB2 NM_001244871:c.-71C>G,NM_001343:c.-71C>G NA NA UTR5 ENSG00000153071 ENST00000545653:c.-71C>G,ENST00000320816:c.-71C>G,ENST00000339788:c.-71C>G,ENST00000509337:c.-71C>G,ENST00000507539:c.-71C>G,ENST00000511792:c.-71C>G,ENST00000503513:c.-71C>G,ENST00000515700:c.-71C>G NA NA Score=343;Name=lod=33 NA 5p13.1 NA NA NA NA rs1050903 0.23 0.23 0.214 0.219649 0.2237 0.2034 0.3141 0.1604 0.2454 0.22 0.23 0.31 0.18 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.290186 3.290186 NA NA NA ID=COSN167444;OCCURENCE=1(large_intestine) 0.145 NA 5.1096334 1141 2 131688587 131688587 G A exonic ARHGEF4 NA synonymous SNV ARHGEF4:NM_015320:exon3:c.G57A:p.A19A,ARHGEF4:NM_032995:exon3:c.G57A:p.A19A exonic ENSG00000136002 NA synonymous SNV ENSG00000136002:ENST00000409303:exon1:c.G57A:p.A19A,ENSG00000136002:ENST00000428230:exon2:c.G57A:p.A19A,ENSG00000136002:ENST00000438985:exon2:c.G597A:p.A199A,ENSG00000136002:ENST00000525839:exon2:c.G57A:p.A19A,ENSG00000136002:ENST00000326016:exon3:c.G57A:p.A19A,ENSG00000136002:ENST00000392953:exon3:c.G57A:p.A19A,ENSG00000136002:ENST00000409359:exon3:c.G2625A:p.A875A NA NA 2q21.1 NA NA NA NA rs6718816 0.22 0.22 0.271 0.257388 0.1829 0.1607 0.1297 0.4047 0.3252 0.2 0.14 0.14 0.43 0.1971 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285077 NA NA 0.177093 0.386291 NA 0.261 NA 5.1095736 1141 15 41483682 41483682 A G exonic EXD1 NA synonymous SNV EXD1:NM_152596:exon8:c.T648C:p.P216P exonic ENSG00000178997 NA synonymous SNV ENSG00000178997:ENST00000314992:exon8:c.T648C:p.P216P,ENSG00000178997:ENST00000458580:exon10:c.T822C:p.P274P NA NA 15q15.1 NA NA NA NA rs1971131 0.3 0.3 0.31 0.341454 0.171 0.2788 0.2161 0.5817 0.3456 0.15 0.3 0.22 0.58 0.2258 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546841 NA NA 0.160698 0.513164 ID=COSM1129217;OCCURENCE=1(prostate) 0.348 NA 5.1091686 1141 9 22748135 22748135 A G ncRNA_intronic FLJ35282 NA NA NA ncRNA_exonic ENSG00000236739 NA NA NA Score=645;Name=lod=556 NA 9p21.3 NA NA NA NA rs842849 0.51 0.51 0.495 0.475439 0.5577 0.4544 0.6081 0.413 0.4029 0.56 0.49 0.6 0.39 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008621 NA NA NA NA NA 0.529 NA 5.1089666 1141 17 37213252 37213252 T C upstream LOC100131347 NA NA NA upstream ENSG00000263818 NA NA NA NA NA 17q12 NA Name=Pol2-4H8,ZNF263,Egr-1,TBP,Nrf1,SRF,HEY1,YY1_(C-20),Mxi1_(bHLH),PU.1,Pol2,HMGN3,TAF1 Name=147 NA rs4794799 0.5 0.5 0.437 0.536342 0.5577 0.503 0.6729 0.3888 0.6513 0.55 0.46 0.62 0.39 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534701 NA NA NA NA NA 0.145 NA 5.1089666 1141 22 22664639 22664639 G A ncRNA_exonic LOC96610 NA NA NA ncRNA_exonic ENSG00000236850 NA NA NA Score=603;Name=lod=376 NA 22q11.22 NA NA NA NA rs9306349 0.49 0.49 0.436 0.53774 0.5577 0.4008 0.5115 0.6089 0.5808 0.53 0.38 0.46 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236359 NA NA NA NA NA NA NA 5.1089666 1141 6 29012116 29012116 G A exonic OR2W1 NA synonymous SNV OR2W1:NM_030903:exon1:c.C837T:p.T279T exonic ENSG00000204704 NA synonymous SNV ENSG00000204704:ENST00000377175:exon1:c.C837T:p.T279T NA NA 6p22.1 NA NA NA NA rs7341218 0.29 0.29 0.275 0.288339 0.1889 0.3929 0.2839 0.354 0.1973 0.16 0.41 0.3 0.34 0.2015 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322034 NA NA 0.167405 0.318001 NA 0.254 NA 5.1088616 1141 6 160225012 160225012 T G exonic PNLDC1 NA synonymous SNV PNLDC1:NM_001271862:exon5:c.T264G:p.S88S,PNLDC1:NM_173516:exon5:c.T231G:p.S77S exonic ENSG00000146453 NA synonymous SNV ENSG00000146453:ENST00000275275:exon5:c.T231G:p.S77S,ENSG00000146453:ENST00000392167:exon5:c.T264G:p.S88S Score=444;Name=lod=85 NA 6q25.3 NA NA NA NA rs35435543 0.37 0.37 0.342 0.3752 0.5109 0.1627 0.5865 0.236 0.4928 0.52 0.15 0.56 0.24 0.5017 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233032 NA NA 0.545581 0.271448 NA 0.297 NA 5.1084856 1141 6 169626244 169626244 T C intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA Name=CTCF NA NA rs7454644 0.14 0.14 0.092 0.176717 0.0606 0.1071 0.0879 0.416 0.1074 0.06 0.1 0.07 0.36 0.1008 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0192 NA NA 0.063605 0.156151 NA 0.051 NA 5.1083283 1141 5 141337126 141337126 C T exonic PCDH12 NA synonymous SNV PCDH12:NM_016580:exon1:c.G291A:p.L97L exonic ENSG00000113555 NA synonymous SNV ENSG00000113555:ENST00000231484:exon1:c.G291A:p.L97L NA NA 5q31.3 NA NA Name=18 NA rs164076 0.58 0.58 0.549 0.591853 0.508 0.8492 0.6369 0.348 0.7106 0.51 0.86 0.61 0.34 0.5627 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101712 NA NA 0.487907 0.375851 NA 0.551 NA 5.1080596 1141 11 5020416 5020416 A G exonic OR51L1 NA synonymous SNV OR51L1:NM_001004755:exon1:c.A204G:p.L68L exonic ENSG00000176798 NA synonymous SNV ENSG00000176798:ENST00000321543:exon1:c.A204G:p.L68L Score=295;Name=lod=21 NA 11p15.4 Score=905;Name=V$YY1_01 NA NA NA rs2445290 0.8 0.8 0.797 0.826278 0.8718 0.6696 0.8271 0.8752 0.8742 0.87 0.66 0.81 0.85 0.8348 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.170384 NA NA 0.852257 0.853476 NA 0.862 NA 5.1078096 1141 5 159378159 159378159 G T intronic ADRA1B NA NA NA ncRNA_exonic ENSG00000248626 NA NA NA Score=803;Name=lod=2455 NA 5q33.3 NA NA NA NA rs13171967 0.23 0.23 0.235 0.242212 0.2256 0.3105 0.1311 0.2663 0.2352 0.22 0.27 0.13 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196502 NA NA NA NA NA 0.181 NA 5.1077333 1141 10 73558852 73558852 A G intronic CDH23 NA NA NA intronic ENSG00000107736 NA NA NA NA NA 10q22.1 Score=771;Name=V$HEN1_01 NA NA NA rs4747193 0.43 0.43 0.412 0.410743 0.2823 0.5972 0.3703 0.4599 0.3129 0.28 0.61 0.33 0.5 0.341 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492191 NA NA 0.268974 0.419881 NA 0.435 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039261.1;CLNDSDB=.;CLNDSDBID=. 5.107726 1141 1 29475394 29475394 C G exonic SRSF4 NA nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1013C:p.G338A exonic ENSG00000116350 NA nonsynonymous SNV ENSG00000116350:ENST00000373795:exon6:c.G1013C:p.G338A NA NA 1p35.3 NA NA NA NA rs2230677 0.52 0.52 0.523 0.495208 0.7694 0.1528 0.5447 0.5598 0.4438 0.77 0.15 0.56 0.56 0.6586 0.8 1 T 0.0 B 0.0 B 0.674 N 1.000 P 0 N 2.64 T -0.969 T 0.000 T 0.088 -0.681 1.034 -0.673 -0.178 0.426 2.466 -0.680963 NA 0.66 0.79786 0.609219 NA 0.536 NA 5.1074734 1141 10 116008464 116008464 T A UTR5 VWA2 NM_001272046:c.-9T>A NA NA UTR5 ENSG00000165816 ENST00000603594:c.-9T>A,ENST00000392982:c.-9T>A NA NA NA NA 10q25.3 NA Name=MafK_(ab50322) NA NA rs9665610 0.08 0.08 0.08 0.0832668 0.0805 0.0585 0.0865 0.146 0.0245 0.08 0.06 0.09 0.1 0.0732 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604033 NA NA 0.072209 0.131639 NA 0.065 NA 5.1074244 1141 6 33555348 33555348 G A ncRNA_exonic LINC00336 NA NA NA ncRNA_exonic ENSG00000197251 NA NA NA NA NA 6p21.31 NA NA Name=7 NA rs4559081 0.12 0.12 0.106 0.0866613 0.2018 0.0546 0.1599 0.0091 0.0542 0.2 0.07 0.15 0.01 0.1705 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335841 NA NA 0.187209 0.036314 NA 0.094 NA 5.1071576 1141 7 129989878 129989878 T C exonic CPA5 NA synonymous SNV CPA5:NM_001127442:exon4:c.T261C:p.S87S,CPA5:NM_080385:exon5:c.T261C:p.S87S,CPA5:NM_001127441:exon6:c.T261C:p.S87S exonic ENSG00000158525 NA synonymous SNV ENSG00000158525:ENST00000393213:exon3:c.T261C:p.S87S,ENSG00000158525:ENST00000431780:exon4:c.T261C:p.S87S,ENSG00000158525:ENST00000461828:exon4:c.T261C:p.S87S,ENSG00000158525:ENST00000463587:exon4:c.T261C:p.S87S,ENSG00000158525:ENST00000485477:exon4:c.T261C:p.S87S,ENSG00000158525:ENST00000466363:exon5:c.T261C:p.S87S,ENSG00000158525:ENST00000474905:exon5:c.T261C:p.S87S,ENSG00000158525:ENST00000355388:exon6:c.T261C:p.S87S Score=487;Name=lod=127 NA 7q32.2 NA NA NA NA rs7808823 0.52 0.52 0.508 0.522963 0.5219 0.5675 0.6311 0.4539 0.4949 0.53 0.55 0.6 0.41 0.5282 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662118 NA NA 0.509767 0.468906 NA 0.384 NA 5.1067996 1141 1 246692028 246692028 T C intergenic LOC255654,TFB2M dist=4439;dist=11835 NA NA ncRNA_exonic ENSG00000229112 NA NA NA Score=403;Name=lod=58 NA 1q44 NA NA Name=3 NA rs3124096 NA NA NA 0.83147 0.8936 0.9573 0.8934 0.7602 0.6902 NA NA NA NA NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168229 NA NA NA NA NA 0.754 NA 5.1064 1141 2 241808685 241808685 C T exonic AGXT NA synonymous SNV AGXT:NM_000030:exon2:c.C264T:p.A88A exonic ENSG00000172482 NA synonymous SNV ENSG00000172482:ENST00000307503:exon2:c.C264T:p.A88A NA NA 2q37.3 NA NA NA NA rs35698882 0.11 0.11 0.104 0.08127 0.2058 NA 0.1326 0.0363 0.0613 0.21 NA 0.14 0.05 0.1498 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.097696 NA NA 0.204767 0.062188 NA 0.109 NA 5.1062996 1141 17 38911212 38911212 G A exonic KRT25 NA synonymous SNV KRT25:NM_181534:exon1:c.C312T:p.N104N exonic ENSG00000204897 NA synonymous SNV ENSG00000204897:ENST00000312150:exon1:c.C312T:p.N104N NA NA 17q21.2 Score=836;Name=V$HTF_01 NA NA NA rs12951078 0.52 0.52 0.504 0.467452 0.506 0.8224 0.5735 0.1641 0.3967 0.51 0.83 0.53 0.16 0.5219 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033388 NA NA 0.532791 0.226055 NA 0.377 NA 5.1059756 1141 10 101293035 101293035 C A exonic NKX2-3 NA synonymous SNV NKX2-3:NM_145285:exon1:c.C147A:p.A49A exonic ENSG00000119919 NA synonymous SNV ENSG00000119919:ENST00000344586:exon1:c.C147A:p.A49A NA NA 10q24.2 NA Name=SUZ12 NA NA rs41290504 0.52 0.52 0.526 0.551318 0.503 0.5546 0.5994 0.5628 0.5481 0.5 0.52 0.55 0.51 0.5375 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480797 NA NA 0.520704 0.570658 ID=COSM426905;OCCURENCE=1(breast) 0.333 NA 5.1054626 1141 16 75186727 75186727 G A intronic ZFP1 NA NA NA intronic ENSG00000184517 NA NA NA NA NA 16q23.1 NA Name=SP1,PU.1,BCL11A,IRF4_(M-17),EBF1_(C-8),BATF,EBF,NFKB,BCL3 Name=8 NA rs11859007 0.78 0.78 0.775 0.74361 0.8946 0.8016 0.7536 0.562 0.7669 0.9 0.8 0.79 0.56 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470736 NA NA NA NA NA 0.812 NA 5.1054 1142 1 26357667 26357667 G A exonic EXTL1 NA synonymous SNV EXTL1:NM_004455:exon5:c.G1146A:p.L382L exonic ENSG00000158008 NA synonymous SNV ENSG00000158008:ENST00000374280:exon5:c.G1146A:p.L382L NA NA 1p36.11 NA NA NA NA rs11247848 0.17 0.17 0.165 0.149361 0.1859 0.1845 0.1484 0.1513 0.0736 0.18 0.2 0.17 0.14 0.1731 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690651 NA NA 0.203605 0.159328 ID=COSM146451;OCCURENCE=1(stomach) 0.268 NA 5.1040616 1142 12 51281432 51281432 G A UTR3 TMPRSS12 NM_182559:c.*136G>A NA NA UTR3 ENSG00000186452 ENST00000551456:c.*2093G>A,ENST00000398458:c.*136G>A NA NA NA NA 12q13.12 Score=898;Name=V$FOXJ2_02 NA NA NA rs3752667 0.22 0.22 0.205 0.230831 0.2296 0.3978 0.2478 0.0946 0.2321 0.2 0.37 0.25 0.07 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.858062 NA NA NA NA NA 0.174 NA 5.1037334 1142 X 24807159 24807159 C T intronic POLA1 NA NA NA ncRNA_exonic ENSG00000232472 NA NA NA NA NA Xp22.11 NA NA NA NA rs201154367 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2296 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.677401 2.677401 NA NA NA NA NA CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000073158.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 5.1037333 1142 7 100072031 100072031 T C exonic TSC22D4 NA synonymous SNV TSC22D4:NM_030935:exon3:c.A795G:p.P265P exonic ENSG00000166925 NA synonymous SNV ENSG00000166925:ENST00000300181:exon3:c.A795G:p.P265P,ENSG00000166925:ENST00000393991:exon3:c.A78G:p.P26P NA NA 7q22.1 NA NA NA NA rs7809801 0.15 0.15 0.136 0.16254 0.1938 0.0218 0.134 0.3011 0.1084 0.19 0.01 0.12 0.27 0.1709 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93533 NA NA 0.198488 0.291875 NA 0.275 NA 5.1034786 1142 6 29894250 29894250 T A upstream HCG4B NA NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=YY1_(C-20),YY1 NA NA rs2240073 0.1 0.1 0.059 0.120008 0.0636 0.3175 0.0476 0.003 0.184 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67649 NA NA NA NA NA 0.087 NA 5.1030666 1142 6 29894269 29894269 T C upstream HCG4B NA NA NA ncRNA_exonic ENSG00000227262,ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=YY1_(C-20),YY1 NA NA rs2074485 0.1 0.1 0.045 0.120008 0.0636 0.3175 0.0476 0.003 0.184 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.402957 1.402957 NA NA NA NA 0.08 NA 5.1030666 1142 6 29894332 29894332 T A upstream HCG4B NA NA NA ncRNA_exonic ENSG00000227262 NA NA NA NA NA 6p22.1 NA Name=YY1_(C-20),YY1 NA NA rs191134254 0.1 0.1 NA 0.120008 0.0636 0.3165 0.0476 0.003 0.1851 0.06 0.27 0.05 0.002 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302336 NA NA NA NA NA NA NA 5.1030666 1142 6 29894334 29894334 G A upstream HCG4B NA NA NA ncRNA_exonic ENSG00000227262 NA NA NA NA NA 6p22.1 NA Name=YY1_(C-20),YY1 NA NA rs2240072 0.1 0.1 NA 0.120008 0.0636 0.3165 0.0476 0.003 0.1851 0.06 0.27 0.05 0.0041 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842704 NA NA NA NA NA NA NA 5.1030666 1142 11 15199957 15199957 T C exonic INSC NA synonymous SNV INSC:NM_001031853:exon5:c.T684C:p.G228G,INSC:NM_001042536:exon5:c.T543C:p.G181G exonic ENSG00000188487 NA synonymous SNV ENSG00000188487:ENST00000525218:exon4:c.T543C:p.G181G,ENSG00000188487:ENST00000528567:exon4:c.T543C:p.G181G,ENSG00000188487:ENST00000530161:exon4:c.T543C:p.G181G,ENSG00000188487:ENST00000379554:exon5:c.T684C:p.G228G,ENSG00000188487:ENST00000379556:exon5:c.T543C:p.G181G,ENSG00000188487:ENST00000424273:exon5:c.T543C:p.G181G Score=572;Name=lod=282 NA 11p15.2 Score=749;Name=V$NRSF_01 NA NA NA rs1714376 0.89 0.89 0.871 0.893171 0.8588 0.9762 0.8991 0.8389 0.9121 0.85 0.98 0.91 0.83 0.8634 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.504608 1.504608 NA 0.841997 0.835794 NA 0.87 NA 5.1024696 1142 13 25592111 25592111 C G intergenic TPTE2P1,PABPC3 dist=49504;dist=78165 NA NA downstream ENSG00000269099 NA NA NA NA NA 13q12.13 NA Name=Pol2,HA-E2F1,ZNF263 Name=27 NA rs9578814 0.45 0.45 0.41 0.466254 0.3976 0.4623 0.4553 0.5303 0.4622 0.4 0.45 0.45 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72476 NA NA NA NA NA 0.406 NA 5.1024 1142 18 5956116 5956116 G A UTR3 L3MBTL4 NM_173464:c.*103C>T NA NA ncRNA_exonic ENSG00000265487 NA NA NA NA NA 18p11.31 NA NA Name=12 NA rs3737351 0.38 0.38 0.367 0.384784 0.3976 0.4742 0.2723 0.2927 0.4836 0.41 0.47 0.28 0.3 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760484 NA NA NA NA NA 0.362 NA 5.1024 1142 18 5956145 5956145 T C UTR3 L3MBTL4 NM_173464:c.*74A>G NA NA ncRNA_exonic ENSG00000265487 NA NA NA NA NA 18p11.31 NA NA Name=12 NA rs3737352 0.38 0.38 0.352 0.384784 0.3976 0.4742 0.2723 0.2927 0.4836 0.41 0.47 0.28 0.3 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.291632 1.291632 NA NA NA NA 0.362 NA 5.1024 1142 22 30127367 30127367 G T UTR3 CABP7 NM_182527:c.*1809G>T NA NA UTR3 ENSG00000100314 ENST00000216144:c.*1809G>T NA NA Score=251;Name=lod=14 NA 22q12.2 NA NA NA NA rs2232903 0.05 0.05 0.03 0.0621006 0.0696 0.0198 0.098 0.025 0.1227 0.08 0.01 0.08 0.03 0.0845 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.851094 1.851094 NA 0.077093 0.035406 NA 0.043 NA 5.1021404 1142 12 109907664 109907664 A T intronic KCTD10 NA NA NA UTR3 ENSG00000110906 ENST00000537165:c.*1327T>A NA NA NA NA 12q24.11 NA NA Name=41 NA rs79210497 0.05 0.05 0.052 0.0453275 0.0646 0.0823 0.0216 0.0053 0.0583 0.08 0.08 0.03 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343823 1.343823 NA NA NA NA 0.014 NA 5.1020667 1142 12 1987605 1987605 C T intronic CACNA2D4 NA NA NA exonic ENSG00000151062 NA nonsynonymous SNV ENSG00000151062:ENST00000444595:exon16:c.G1647A:p.M549I NA NA 12p13.33 NA NA NA NA rs79680317 0.05 0.05 0.062 0.0634984 0.0099 0.0099 0.0187 0.1732 0.0573 0.01 0.02 0.02 0.17 0.0408 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.587277 1.587277 0.01 0.013926 0.121565 NA 0.029 NA 5.1020407 1142 15 25307601 25307601 A G downstream SNORD116-5,SNORD116-7 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA Name=ZNF274 NA NA rs112765442 0.04 0.04 0.04 0.058107 0.0159 NA 0.0288 0.1672 0.0348 0.02 NA 0.02 0.15 0.031 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030869 NA NA 0.01783 0.139269 NA 0.014 NA 5.1019366 1142 12 51685831 51685831 T C exonic BIN2 NA synonymous SNV BIN2:NM_016293:exon10:c.A1059G:p.E353E exonic ENSG00000110934 NA synonymous SNV ENSG00000110934:ENST00000452142:exon9:c.A963G:p.E321E,ENSG00000110934:ENST00000604560:exon9:c.A978G:p.E326E,ENSG00000110934:ENST00000267012:exon10:c.A1059G:p.E353E,ENSG00000110934:ENST00000544402:exon10:c.A981G:p.E327E NA NA 12q13.13 NA Name=CTCF Name=18 NA rs3210837 0.79 0.79 0.762 0.78115 0.8598 0.8433 0.8631 0.5643 0.8712 0.85 0.84 0.83 0.6 0.8428 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.56655 NA NA 0.862442 0.591693 NA 0.812 NA 5.1016246 1142 15 25307590 25307590 G T downstream SNORD116-5,SNORD116-7 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA Name=ZNF274 NA NA rs113295488 0.05 0.05 0.045 0.0613019 0.0159 NA 0.0303 0.1785 0.0348 0.02 NA 0.02 0.16 0.0315 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.920451 NA NA 0.01783 0.156963 NA 0.029 NA 5.1014366 1142 1 47717189 47717189 A G exonic STIL NA synonymous SNV STIL:NM_001048166:exon17:c.T3486C:p.P1162P,STIL:NM_003035:exon17:c.T3483C:p.P1161P exonic ENSG00000123473 NA synonymous SNV ENSG00000123473:ENST00000243182:exon17:c.T3483C:p.P1161P,ENSG00000123473:ENST00000337817:exon17:c.T3483C:p.P1161P,ENSG00000123473:ENST00000371877:exon17:c.T3486C:p.P1162P,ENSG00000123473:ENST00000396221:exon17:c.T3432C:p.P1144P,ENSG00000123473:ENST00000360380:exon18:c.T3483C:p.P1161P NA NA 1p33 NA NA NA NA rs2758735 0.41 0.41 0.363 0.393371 0.5427 0.4296 0.4078 0.1218 0.5593 0.53 0.42 0.45 0.16 0.4979 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633806 NA NA 0.525 0.181117 NA 0.413 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000080044.1|RCV000128291.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.1010666 1142 3 156528265 156528265 C T ncRNA_exonic PA2G4P4 NA NA NA ncRNA_exonic ENSG00000230457 NA NA NA Score=825;Name=lod=3005 NA 3q25.31 NA NA NA NA rs10936037 0.58 0.58 0.517 0.594449 0.5656 0.8433 0.6513 0.323 0.6943 0.52 0.83 0.64 0.33 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.427717 1.427717 NA NA NA NA 0.551 NA 5.1010666 1142 19 1014377 1014377 A G exonic TMEM259 NA synonymous SNV TMEM259:NM_001033026:exon2:c.T321C:p.R107R,TMEM259:NM_033420:exon2:c.T321C:p.R107R exonic ENSG00000182087 NA synonymous SNV ENSG00000182087:ENST00000333175:exon2:c.T321C:p.R107R,ENSG00000182087:ENST00000356663:exon2:c.T321C:p.R107R NA NA 19p13.3 NA NA NA NA rs1058506 0.19 0.19 0.188 0.190695 0.2028 0.1141 0.121 0.2315 0.2515 0.22 0.11 0.14 0.27 0.1858 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385962 NA NA 0.177134 0.189827 NA 0.203 NA 5.1009326 1142 1 94057720 94057720 T A ncRNA_exonic LOC100129046 NA NA NA intronic ENSG00000137936 NA NA NA NA NA 1p22.1 NA Name=FOXA1_(SC-101058),p300,USF-1,RXRA,FOXA1_(C-20),Pol2,KAP1 NA NA rs236326 0.33 0.33 0.368 0.342452 0.2326 0.1379 0.2046 0.8351 0.0982 0.23 0.13 0.22 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511287 NA NA NA NA NA 0.391 NA 5.1007333 1142 5 178336739 178336739 G A intronic ZFP2 NA NA NA ncRNA_exonic ENSG00000213328 NA NA NA Score=750;Name=lod=1484 NA 5q35.3 NA NA NA NA rs61747996 0.15 0.15 0.134 0.141374 0.2326 0.0883 0.1268 0.1172 0.1452 0.23 0.08 0.15 0.11 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.596818 2.596818 NA NA NA NA 0.109 NA 5.1007333 1142 16 89294697 89294697 C T exonic ZNF778 NA synonymous SNV ZNF778:NM_182531:exon6:c.C1917T:p.H639H,ZNF778:NM_001201407:exon7:c.C2001T:p.H667H exonic ENSG00000170100 NA synonymous SNV ENSG00000170100:ENST00000306502:exon5:c.C1791T:p.H597H,ENSG00000170100:ENST00000433976:exon6:c.C1917T:p.H639H Score=412;Name=lod=63 NA 16q24.3 NA Name=SETDB1 NA NA rs60437616 0.75 0.75 0.747 0.700479 0.8738 0.7123 0.8184 0.4947 0.7045 0.87 0.72 0.87 0.54 0.8083 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008445 NA NA 0.883845 0.561528 NA 0.703 NA 5.1007216 1142 19 53960224 53960224 T C UTR3 ZNF761 NM_001008401:c.*222T>C NA NA ncRNA_exonic ENSG00000160336 NA NA NA Score=369;Name=lod=42 NA 19q13.42 NA NA NA NA rs2708741 0.38 0.38 0.335 0.391773 0.3996 0.2401 0.5375 0.4123 0.409 0.4 0.25 0.54 0.37 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052481 NA NA NA NA NA 0.384 NA 5.1004 1142 19 53960338 53960338 A G UTR3 ZNF761 NM_001008401:c.*336A>G NA NA ncRNA_exonic ENSG00000160336 NA NA NA Score=340;Name=lod=32 NA 19q13.42 NA NA NA NA rs2708740 0.37 0.37 0.331 0.391973 0.3996 0.2401 0.5375 0.4123 0.41 0.4 0.25 0.54 0.36 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573658 NA NA NA NA NA 0.384 NA 5.1004 1142 8 144902682 144902682 T C intronic PUF60 NA NA NA intronic ENSG00000179950 NA NA NA Score=780;Name=lod=1980 NA 8q24.3 Score=762;Name=V$PAX5_01 NA NA NA rs4874103 0.9 0.9 0.871 0.901158 0.8996 0.9762 0.9236 0.7844 0.9673 0.9 0.98 0.89 0.81 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.771474 3.771474 NA NA NA NA 0.768 NA 5.1004 1142 16 87447903 87447903 C T intronic ZCCHC14 NA NA NA intronic ENSG00000140948 NA NA NA NA NA 16q24.2 NA Name=STAT3,BATF Name=9 NA rs7206322 0.82 0.82 0.89 0.955272 0.8996 0.9931 0.9481 0.9667 0.9632 0.79 0.88 0.85 0.77 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365516 NA NA NA NA NA 0.21 NA 5.1004 1142 9 104324545 104324545 G A exonic RNF20 NA synonymous SNV RNF20:NM_019592:exon20:c.G2769A:p.P923P exonic ENSG00000155827 NA synonymous SNV ENSG00000155827:ENST00000389120:exon20:c.G2769A:p.P923P NA NA 9q31.1 NA NA NA NA rs10521057 0.18 0.18 0.185 0.185304 0.1938 0.3562 0.0865 0.0038 0.316 0.19 0.35 0.09 0.01 0.1891 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110893 NA NA 0.18407 0.040626 ID=COSM455064;OCCURENCE=1(breast) 0.145 NA 5.0996966 1142 1 100111956 100111956 A G intronic PALMD NA NA NA intronic ENSG00000099260 NA NA NA NA NA 1p21.2 NA Name=Pol2,Pol2(b) Name=99 NA rs834997 0.25 0.25 0.258 0.257588 0.327 0.0139 0.1643 0.4259 0.2761 0.34 0.01 0.21 0.41 0.2672 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.091221 2.091221 NA 0.307209 0.389015 NA 0.326 NA 5.098591 1142 7 107849908 107849908 G A exonic NRCAM NA synonymous SNV NRCAM:NM_001037132:exon9:c.C1032T:p.N344N,NRCAM:NM_001193583:exon11:c.C975T:p.N325N,NRCAM:NM_001193584:exon11:c.C975T:p.N325N,NRCAM:NM_005010:exon11:c.C1014T:p.N338N,NRCAM:NM_001193582:exon12:c.C1032T:p.N344N exonic ENSG00000091129 NA synonymous SNV ENSG00000091129:ENST00000417701:exon9:c.C1014T:p.N338N,ENSG00000091129:ENST00000425651:exon9:c.C1032T:p.N344N,ENSG00000091129:ENST00000351718:exon11:c.C1014T:p.N338N,ENSG00000091129:ENST00000379024:exon11:c.C975T:p.N325N,ENSG00000091129:ENST00000379028:exon12:c.C1032T:p.N344N,ENSG00000091129:ENST00000413765:exon12:c.C975T:p.N325N,ENSG00000091129:ENST00000379022:exon13:c.C1032T:p.N344N Score=547;Name=lod=223 NA 7q31.1 NA NA NA NA rs1269621 0.61 0.61 0.605 0.584864 0.508 0.8155 0.6066 0.5408 0.4703 0.51 0.81 0.58 0.57 0.5528 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737616 NA NA 0.507907 0.547208 NA 0.486 NA 5.0979596 1142 6 32164869 32164869 G C intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA NA 6p21.32 NA Name=GATA-1 Name=2 NA rs2071280 0.24 0.24 0.24 0.230232 0.2992 0.1677 0.2594 0.1808 0.2699 0.29 0.19 0.28 0.18 0.3066 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206395 NA NA 0.296419 0.173179 NA 0.304 NA 5.097781 1142 21 34668747 34668747 A G UTR3 IL10RB NM_000628:c.*85A>G NA NA UTR3 ENSG00000243646 ENST00000290200:c.*85A>G NA NA NA NA 21q22.11 NA Name=PAX5-N19,PAX5-C20 Name=6 NA rs3171425 0.58 0.58 0.535 0.56849 0.5994 0.7569 0.5576 0.3086 0.7014 0.61 0.73 0.59 0.33 0.6362 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294814 NA NA NA NA NA 0.587 NA 5.0977334 1142 9 131585069 131585069 A G exonic C9orf114 NA nonsynonymous SNV C9orf114:NM_016390:exon12:c.T1106C:p.I369T exonic ENSG00000198917 NA nonsynonymous SNV ENSG00000198917:ENST00000467582:exon3:c.T199C:p.S67P,ENSG00000198917:ENST00000361256:exon12:c.T1106C:p.I369T NA NA 9q34.11 NA NA NA NA rs2280843 0.68 0.68 0.627 0.603834 0.7465 0.7331 0.7853 0.3086 0.5941 0.79 0.75 0.77 0.35 0.7422 0.79 0.77 T 0.0 B 0.0 B . . 1.000 P -1.39 N 2.02 T -0.979 T 0.000 T 0.055 -0.389 2.173 -0.317 -0.209 -0.084 0.474 -0.389315 NA 0 0.747203 0.377165 NA 0.645 NA 5.0974304 1142 11 50379403 50379403 T C ncRNA_exonic LOC646813 NA NA NA ncRNA_exonic ENSG00000214883 NA NA NA Score=598;Name=lod=360 NA 11p11.12 NA NA NA NA rs692607 0.51 0.51 0.485 0.500599 0.5696 0.5546 0.6297 0.3464 0.4908 0.57 0.55 0.64 0.27 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383873 NA NA NA NA NA 0.507 NA 5.0970666 1142 11 65161129 65161129 C T exonic FRMD8 NA synonymous SNV FRMD8:NM_031904:exon4:c.C339T:p.D113D exonic ENSG00000126391 NA synonymous SNV ENSG00000126391:ENST00000355991:exon3:c.C171T:p.D57D,ENSG00000126391:ENST00000533782:exon3:c.C171T:p.D57D,ENSG00000126391:ENST00000317568:exon4:c.C339T:p.D113D NA NA 11q13.1 Score=793;Name=V$PAX5_01 NA NA NA rs2073800 0.32 0.32 0.316 0.287939 0.5467 0.2698 0.2911 0.028 0.3896 0.55 0.27 0.32 0.05 0.4642 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968791 NA NA 0.559008 0.115402 NA 0.362 NA 5.0967586 1142 12 68715417 68715417 G A intronic MDM1 NA NA NA intronic ENSG00000111554 NA NA NA Score=529;Name=lod=189 NA 12q15 Score=825;Name=V$OCT1_04 NA NA NA rs7964052 0.22 0.22 0.203 0.216054 0.3052 0.1736 0.2176 0.0893 0.3384 0.31 0.17 0.27 0.12 0.2949 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718213 NA NA 0.303189 0.138346 NA 0.261 NA 5.096711 1142 7 77200392 77200392 A T intronic PTPN12 NA NA NA intronic ENSG00000127947 NA NA NA Score=681;Name=lod=783 NA 7q11.23 Score=788;Name=V$MEF2_03 NA NA NA rs17155183 0.24 0.24 0.213 0.254193 0.3091 0.1786 0.2392 0.2587 0.2802 0.3 0.19 0.2 0.26 0.3095 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.505408 1.505408 NA 0.284932 0.255338 NA 0.275 NA 5.096468 1142 9 14737506 14737506 T G exonic FREM1 NA nonsynonymous SNV FREM1:NM_001177704:exon14:c.A2036C:p.Q679P,FREM1:NM_144966:exon38:c.A6428C:p.Q2143P exonic ENSG00000164946 NA nonsynonymous SNV ENSG00000164946:ENST00000380894:exon14:c.A2036C:p.Q679P,ENSG00000164946:ENST00000380880:exon37:c.A6428C:p.Q2143P,ENSG00000164946:ENST00000380881:exon38:c.A6431C:p.Q2144P,ENSG00000164946:ENST00000422223:exon38:c.A6428C:p.Q2143P NA NA 9p22.3 NA NA NA NA rs10961689 0.7 0.7 0.768 0.735024 0.7654 0.7808 0.7392 0.7632 0.6155 0.69 0.73 0.71 0.69 0.7385 0.79 0.28 T 0.004 B 0.004 B 0.195 N 1.000 P 0.95 L 2.35 T -1.055 T 0.000 T 0.215 0.644 7.459 -0.727 0.139 -0.444 2.125 0.644301 NA 0.31 0.733826 0.793176 NA 0.717 NA 5.0956074 1142 12 119632713 119632713 C T downstream HSPB8 NA NA NA ncRNA_exonic ENSG00000213144 NA NA NA Score=686;Name=lod=822 NA 12q24.23 NA NA NA NA rs11064704 0.09 0.09 0.075 0.109026 0.0716 0.2292 0.0548 0.0303 0.1687 0.06 0.2 0.04 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952844 NA NA NA NA NA 0.101 NA 5.0950666 1143 16 53404203 53404203 C A exonic LOC643802 NA nonsynonymous SNV LOC643802:NM_001207030:exon2:c.G275T:p.G92V ncRNA_exonic ENSG00000260078 NA NA NA Score=533;Name=lod=195 NA 16q12.2 NA NA NA NA rs10775327 0.73 0.73 0.714 0.732827 0.7187 0.9196 0.7118 0.6135 0.7311 0.71 0.91 0.7 0.57 0.6868 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915282 NA 0.05 NA NA NA 0.703 NA 5.0945 1143 1 206328803 206328803 T C exonic CTSE NA synonymous SNV CTSE:NM_001910:exon7:c.T870C:p.P290P exonic ENSG00000196188 NA synonymous SNV ENSG00000196188:ENST00000358184:exon7:c.T870C:p.P290P,ENSG00000196188:ENST00000361052:exon7:c.T885C:p.P295P NA NA 1q32.1 NA NA NA NA rs41302235 0.2 0.2 0.197 0.184505 0.2107 0.0169 0.1671 0.3911 0.0634 0.21 0.01 0.2 0.4 0.1743 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.353989 2.353989 NA 0.187326 0.386064 NA 0.275 NA 5.0943406 1143 4 186112111 186112111 G A exonic KIAA1430 NA synonymous SNV KIAA1430:NM_020827:exon2:c.C240T:p.P80P exonic ENSG00000164323 NA synonymous SNV ENSG00000164323:ENST00000296775:exon2:c.C240T:p.P80P,ENSG00000164323:ENST00000458385:exon2:c.C240T:p.P80P,ENSG00000164323:ENST00000514798:exon2:c.C240T:p.P80P,ENSG00000164323:ENST00000503223:exon3:c.C240T:p.P80P NA NA 4q35.1 NA Name=NFKB,PU.1 NA NA rs3108237 0.54 0.54 0.537 0.540935 0.501 0.6012 0.5533 0.503 0.5624 0.49 0.64 0.51 0.51 0.5317 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.325659 NA NA 0.539863 0.551443 NA 0.63 NA 5.0941036 1143 9 22012422 22012422 G A ncRNA_intronic CDKN2B-AS1 NA NA NA ncRNA_exonic ENSG00000215221 NA NA NA Score=733;Name=lod=1268 NA 9p21.3 NA NA NA NA rs545226 0.62 0.62 0.64 0.646965 0.5726 0.4048 0.6167 0.9289 0.6135 0.58 0.44 0.58 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746366 NA NA NA NA NA 0.725 NA 5.0940666 1143 19 20807438 20807438 A G exonic ZNF626 NA synonymous SNV ZNF626:NM_001076675:exon4:c.T1245C:p.H415H exonic ENSG00000188171 NA synonymous SNV ENSG00000188171:ENST00000601440:exon4:c.T1245C:p.H415H Score=336;Name=lod=31 NA 19p12 NA Name=ZNF274 NA NA rs62107362 0.8 0.8 0.79 0.753994 0.8678 0.7569 0.8545 0.5794 0.7986 0.88 0.83 0.9 0.58 0.8343 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.946226 NA NA 0.870597 0.643024 ID=COSM1391936;OCCURENCE=1(large_intestine) 0.167 NA 5.0939696 1143 10 44094186 44094186 C T intergenic ZNF239,ZNF485 dist=24120;dist=7669 NA NA intergenic ENSG00000196793,ENSG00000232004 dist=24120;dist=6105 NA NA Score=670;Name=lod=702 NA 10q11.21 NA NA Name=44 NA rs10793447 0.4 0.4 0.36 0.379593 0.2396 0.751 0.4092 0.236 0.3139 0.24 0.77 0.39 0.22 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313416 1.313416 NA NA NA NA 0.319 NA 5.0937334 1143 5 74095419 74095419 G A intronic FAM169A NA NA NA ncRNA_exonic ENSG00000250071 NA NA NA Score=772;Name=lod=1827 NA 5q13.3 NA NA NA NA rs6859014 0.36 0.36 0.359 0.382588 0.2396 0.2103 0.3357 0.7542 0.2382 0.22 0.19 0.37 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.540075 1.540075 NA NA NA NA 0.478 NA 5.0937333 1143 1 152276871 152276871 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T10491C:p.D3497D exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T10491C:p.D3497D NA NA 1q21.3 NA NA NA NA rs3126066 0.38 0.38 0.348 0.447085 0.1471 0.6448 0.4395 0.5204 0.4581 0.15 0.61 0.34 0.49 0.2779 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231061 NA NA 0.148476 0.463005 NA 0.116 NA 5.0931906 1143 22 36556964 36556964 C T UTR5 APOL3 NM_145640:c.-25G>A NA NA UTR5 ENSG00000128284 ENST00000397293:c.-11861G>A,ENST00000397289:c.-25G>A,ENST00000422426:c.-25G>A,ENST00000432700:c.-25G>A,ENST00000349314:c.-25G>A NA NA NA NA 22q12.3 NA Name=NFKB,IRF1,Pol2,PRDM1_(Val90) Name=97 NA rs916334 0.47 0.47 0.431 0.450879 0.3897 0.8403 0.5965 0.0545 0.545 0.39 0.85 0.57 0.07 0.4677 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002002 NA NA 0.382907 0.109169 NA 0.29 NA 5.0930264 1143 11 56503873 56503873 C T intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000254953 NA NA NA Score=395;Name=lod=54 NA 11q12.1 NA NA NA NA rs17151047 0.34 0.34 0.277 0.366414 0.2406 0.619 0.4914 0.1029 0.5031 0.23 0.61 0.46 0.12 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.296379 1.296379 NA NA NA NA 0.297 NA 5.0927333 1143 11 6477831 6477831 C T exonic TRIM3 NA synonymous SNV TRIM3:NM_001248007:exon5:c.G768A:p.P256P,TRIM3:NM_001248006:exon6:c.G1125A:p.P375P,TRIM3:NM_033278:exon6:c.G1125A:p.P375P,TRIM3:NM_006458:exon7:c.G1125A:p.P375P exonic ENSG00000110171 NA synonymous SNV ENSG00000110171:ENST00000536344:exon5:c.G768A:p.P256P,ENSG00000110171:ENST00000345851:exon6:c.G1125A:p.P375P,ENSG00000110171:ENST00000525074:exon6:c.G1125A:p.P375P,ENSG00000110171:ENST00000537602:exon6:c.G891A:p.P297P,ENSG00000110171:ENST00000359518:exon7:c.G1125A:p.P375P NA NA 11p15.4 NA NA NA NA rs10606 0.16 0.16 0.18 0.1877 0.1849 0.0188 0.1772 0.2973 0.2239 0.19 0.02 0.15 0.3 0.1867 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446306 NA NA 0.20318 0.287506 ID=COSM330242;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.304 NA 5.0918866 1143 12 19610213 19610213 C T intronic AEBP2 NA NA NA ncRNA_exonic ENSG00000245205 NA NA NA Score=783;Name=lod=2035 NA 12p12.3 NA NA NA NA rs7966663 0.31 0.31 0.322 0.32508 0.2416 0.3036 0.2118 0.5461 0.2147 0.25 0.27 0.25 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019886 NA NA NA NA NA 0.254 NA 5.0917333 1143 1 248814126 248814126 G A exonic OR2T27 NA synonymous SNV OR2T27:NM_001001824:exon1:c.C60T:p.N20N exonic ENSG00000187701 NA synonymous SNV ENSG00000187701:ENST00000344889:exon1:c.C60T:p.N20N NA NA 1q44 NA NA NA NA rs1416992 0.67 0.67 0.664 NA NA NA NA NA NA 0.59 0.88 0.6 0.61 0.5751 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.663997 NA NA NA NA NA 0.109 NA 5.0915666 1143 11 56757021 56757021 G A exonic OR5AK2 NA synonymous SNV OR5AK2:NM_001005323:exon1:c.G633A:p.G211G exonic ENSG00000181273 NA synonymous SNV ENSG00000181273:ENST00000326855:exon1:c.G633A:p.G211G NA NA 11q12.1 NA NA NA NA rs61886711 0.17 0.17 0.189 0.163139 0.2177 0.1458 0.1081 0.1263 0.2137 0.23 0.15 0.14 0.13 0.1746 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.594938 NA NA 0.182961 0.124489 NA 0.152 NA 5.0914056 1143 9 6734997 6734997 T A intronic KDM4C NA NA NA ncRNA_exonic ENSG00000231108 NA NA NA Score=652;Name=lod=598 NA 9p24.1 NA NA NA NA rs2988411 0.15 0.15 0.133 0.127796 0.2425 NA 0.1571 0.1846 0.044 0.23 NA 0.17 0.17 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973947 NA NA NA NA NA 0.145 NA 5.0908333 1143 9 96082752 96082752 G T UTR3 WNK2 NM_006648:c.*78G>T NA NA UTR3 ENSG00000165238 ENST00000356055:c.*722G>T,ENST00000349097:c.*78G>T,ENST00000395475:c.*4197G>T,ENST00000395477:c.*78G>T,ENST00000448251:c.*78G>T NA NA Score=603;Name=lod=375 NA 9q22.31 NA NA NA NA rs6479474 0.11 0.11 0.118 0.0972444 0.1362 0.001 0.0893 0.1762 0.0552 0.14 0.0017 0.1 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.448841 4.448841 NA 0.106537 0.15896 NA 0.101 NA 5.0905964 1143 6 44081718 44081718 G A exonic MRPL14 NA synonymous SNV MRPL14:NM_032111:exon3:c.C300T:p.F100F exonic ENSG00000180992 NA synonymous SNV ENSG00000180992:ENST00000372014:exon3:c.C300T:p.F100F NA NA 6p21.1 Score=700;Name=V$BRACH_01 NA NA NA rs6883 0.67 0.67 0.66 0.670128 0.495 0.7857 0.719 0.8079 0.5102 0.49 0.78 0.68 0.82 0.5809 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616142 NA NA 0.500465 0.7601 NA 0.594 NA 5.0903016 1143 10 44100867 44100867 T G upstream ZNF485 NA NA NA ncRNA_exonic ENSG00000232004 NA NA NA Score=508;Name=lod=155 NA 10q11.21 NA NA NA NA rs7916345 0.07 0.07 0.08 0.076877 0.0765 0.001 0.0418 0.1747 0.0481 0.08 0.0017 0.04 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.93661 1.93661 NA NA NA NA 0.109 NA 5.0901666 1143 14 78197365 78197365 C T exonic SNW1 NA synonymous SNV SNW1:NM_012245:exon10:c.G999A:p.E333E exonic ENSG00000100603 NA synonymous SNV ENSG00000100603:ENST00000554775:exon7:c.G513A:p.E171E,ENSG00000100603:ENST00000261531:exon10:c.G999A:p.E333E,ENSG00000100603:ENST00000555761:exon10:c.G999A:p.E333E Score=692;Name=lod=863 NA 14q24.3 NA NA NA NA rs114763 0.59 0.59 0.573 0.622404 0.4861 0.6796 0.6513 0.6059 0.7055 0.49 0.65 0.65 0.61 0.5712 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.784944 NA NA 0.519419 0.558557 NA 0.449 NA 5.0899476 1143 14 24760808 24760808 C T exonic DHRS1 NA synonymous SNV DHRS1:NM_001136050:exon7:c.G678A:p.A226A,DHRS1:NM_138452:exon7:c.G678A:p.A226A exonic ENSG00000157379 NA synonymous SNV ENSG00000157379:ENST00000288111:exon7:c.G678A:p.A226A,ENSG00000157379:ENST00000396813:exon7:c.G678A:p.A226A NA NA 14q12 NA NA NA NA rs1131941 0.15 0.15 0.135 0.148962 0.1869 0.004 0.3473 0.1513 0.1155 0.2 0.01 0.3 0.14 0.1826 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813684 NA NA 0.207326 0.165229 NA 0.13 NA 5.0898406 1143 1 228496014 228496014 G A exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon47:c.G12669A:p.T4223T,OBSCN:NM_052843:exon47:c.G12669A:p.T4223T,OBSCN:NM_001271223:exon58:c.G15540A:p.T5180T exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon47:c.G12669A:p.T4223T,ENSG00000154358:ENST00000366709:exon47:c.G4026A:p.T1342T,ENSG00000154358:ENST00000422127:exon47:c.G12669A:p.T4223T,ENSG00000154358:ENST00000366707:exon53:c.G5571A:p.T1857T,ENSG00000154358:ENST00000570156:exon58:c.G15540A:p.T5180T NA NA 1q42.13 NA NA NA NA rs876180 0.22 0.22 0.19 0.213059 0.161 0.1825 0.2781 0.32 0.1074 0.16 0.17 0.28 0.33 0.2387 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16416 NA NA 0.177194 0.318974 ID=COSM425523,COSM1473532,COSM1473531;OCCURENCE=1(breast) 0.225 NA 5.0897726 1143 3 21447799 21447799 T C ncRNA_exonic VENTXP7 NA NA NA ncRNA_exonic ENSG00000236380 NA NA NA Score=313;Name=lod=25 NA 3p24.3 NA NA NA NA rs430387 0.76 0.76 0.738 0.769968 0.5775 0.8661 0.7161 0.8933 0.7403 0.61 0.86 0.74 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027169 NA NA NA NA NA 0.71 NA 5.0891666 1143 12 64875787 64875787 T A exonic TBK1 NA synonymous SNV TBK1:NM_013254:exon8:c.T978A:p.I326I exonic ENSG00000183735 NA synonymous SNV ENSG00000183735:ENST00000331710:exon8:c.T978A:p.I326I Score=573;Name=lod=283 NA 12q14.2 NA NA NA NA rs7486100 0.41 0.41 0.359 0.353235 0.5388 0.3046 0.4798 0.1649 0.3773 0.54 0.34 0.51 0.21 0.4814 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413445 NA NA 0.557442 0.209941 NA 0.507 NA 5.0890246 1143 12 133702259 133702259 C T intronic ZNF891 NA NA NA ncRNA_exonic ENSG00000240991 NA NA NA Score=700;Name=lod=936 NA 12q24.33 NA NA NA NA rs11147243 0.15 0.15 0.131 0.149161 0.2455 0.122 0.1614 0.0091 0.2587 0.25 0.12 0.17 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280123 NA NA NA NA NA 0.051 NA 5.0878333 1143 14 81499155 81499155 G A intronic TSHR NA NA NA ncRNA_exonic ENSG00000259167 NA NA NA Score=631;Name=lod=487 NA 14q31.1 NA NA NA NA rs2192727 0.23 0.23 0.254 0.245807 0.2455 0.1984 0.147 0.2368 0.3773 0.25 0.21 0.17 0.25 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326393 NA NA NA NA NA 0.268 NA 5.0878333 1143 14 81499495 81499495 C G intronic TSHR NA NA NA ncRNA_exonic ENSG00000259167 NA NA NA Score=654;Name=lod=608 NA 14q31.1 NA NA NA NA rs2268470 0.23 0.23 0.239 0.245607 0.2455 0.1984 0.147 0.2368 0.3763 0.25 0.21 0.17 0.25 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006157 NA NA NA NA NA 0.268 NA 5.0878333 1143 14 81499539 81499539 T C intronic TSHR NA NA NA ncRNA_exonic ENSG00000259167 NA NA NA Score=654;Name=lod=608 NA 14q31.1 NA NA NA NA rs2268471 0.23 0.23 0.233 0.245807 0.2455 0.1984 0.147 0.2368 0.3773 0.25 0.21 0.17 0.25 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202909 NA NA NA NA NA 0.268 NA 5.0878333 1143 19 58084930 58084930 G A exonic ZNF416 NA synonymous SNV ZNF416:NM_017879:exon4:c.C342T:p.T114T exonic ENSG00000083817 NA synonymous SNV ENSG00000083817:ENST00000196489:exon4:c.C342T:p.T114T NA NA 19q13.43 NA NA NA NA rs3746222 0.15 0.15 0.174 0.167532 0.2078 0.0942 0.1369 0.202 0.1769 0.21 0.06 0.14 0.18 0.1786 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172978 NA NA 0.19314 0.193373 NA 0.188 NA 5.0871266 1143 4 88584148 88584148 C T exonic DMP1 NA synonymous SNV DMP1:NM_001079911:exon5:c.C1170T:p.S390S,DMP1:NM_004407:exon6:c.C1218T:p.S406S exonic ENSG00000152592 NA synonymous SNV ENSG00000152592:ENST00000282479:exon5:c.C1170T:p.S390S,ENSG00000152592:ENST00000339673:exon6:c.C1218T:p.S406S NA NA 4q22.1 NA NA NA NA rs2615498 0.16 0.16 0.157 0.175719 0.1968 0.2401 0.1527 0.0431 0.2832 0.2 0.24 0.14 0.05 0.1915 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.275765 NA NA 0.191395 0.073082 NA 0.152 NA 5.0869716 1143 1 183184616 183184616 C T exonic LAMC2 NA synonymous SNV LAMC2:NM_005562:exon3:c.C297T:p.S99S,LAMC2:NM_018891:exon3:c.C297T:p.S99S exonic ENSG00000058085 NA synonymous SNV ENSG00000058085:ENST00000264144:exon3:c.C297T:p.S99S,ENSG00000058085:ENST00000493293:exon3:c.C297T:p.S99S NA NA 1q25.3 NA NA NA NA rs2274980 0.29 0.29 0.283 0.313698 0.1571 0.3333 0.317 0.4024 0.3323 0.17 0.34 0.29 0.41 0.246 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018329 NA NA 0.176628 0.381752 NA 0.232 NA 5.0869386 1143 22 44342325 44342325 C T UTR3 PNPLA3 NM_025225:c.*63C>T NA NA UTR3 ENSG00000100344 ENST00000216180:c.*63C>T,ENST00000423180:c.*63C>T NA NA NA NA 22q13.31 NA Name=CTCF,Rad21 NA NA rs2294919 0.26 0.26 0.238 0.246605 0.2465 0.3819 0.1916 0.1475 0.2802 0.25 0.36 0.21 0.19 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203321 NA NA NA NA NA 0.312 NA 5.0868334 1143 3 72821708 72821708 T C intronic SHQ1 NA NA NA ncRNA_exonic ENSG00000241537 NA NA NA Score=615;Name=lod=423 NA 3p13 NA NA NA NA rs62251655 0.18 0.18 0.18 0.16873 0.2465 0.0427 0.1643 0.2126 0.1626 0.26 0.04 0.16 0.23 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686254 NA NA NA NA NA 0.101 NA 5.0868333 1143 9 130062379 130062379 A G intronic GARNL3 NA NA NA ncRNA_exonic ENSG00000229369 NA NA NA Score=651;Name=lod=590 NA 9q33.3 NA NA NA NA rs62578825 0.17 0.17 0.154 0.171126 0.2465 0.246 0.1499 0.031 0.2209 0.23 0.21 0.15 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151137 NA NA NA NA NA 0.152 NA 5.0868333 1143 6 66112409 66112409 A G exonic EYS NA synonymous SNV EYS:NM_198283:exon6:c.T1146C:p.N382N,EYS:NM_001142800:exon7:c.T1146C:p.N382N,EYS:NM_001142801:exon7:c.T1146C:p.N382N exonic ENSG00000188107 NA synonymous SNV ENSG00000188107:ENST00000370616:exon4:c.T1146C:p.N382N,ENSG00000188107:ENST00000342421:exon5:c.T1146C:p.N382N,ENSG00000188107:ENST00000370618:exon7:c.T1146C:p.N382N,ENSG00000188107:ENST00000370621:exon7:c.T1146C:p.N382N,ENSG00000188107:ENST00000393380:exon7:c.T1146C:p.N382N,ENSG00000188107:ENST00000503581:exon7:c.T1146C:p.N382N NA NA 6q12 NA Name=c-Fos NA NA rs974110 0.5 0.5 0.507 0.50599 0.5388 0.4554 0.5072 0.5129 0.5143 0.55 0.45 0.44 0.53 0.5165 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621961 NA NA 0.525082 0.534287 NA 0.514 NA 5.0862846 1143 5 41475766 41475766 C T intronic PLCXD3 NA NA NA intronic ENSG00000182836 NA NA NA Score=497;Name=lod=140 NA 5p13.1 NA NA Name=2 NA rs318039 0.28 0.28 0.328 0.365216 0.3082 0.1081 0.2349 0.6861 0.3476 0.28 0.1 0.2 0.55 0.308 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327141 NA NA 0.297599 0.598533 ID=COSN404847;OCCURENCE=1(lung) 0.355 NA 5.086201 1143 11 130785304 130785304 T C exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon1:c.A531G:p.A177A exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon1:c.A531G:p.A177A,ENSG00000120451:ENST00000533214:exon1:c.A531G:p.A177A NA NA 11q24.3 NA NA NA NA rs3751034 0.14 0.14 0.138 0.127396 0.1988 0.1538 0.0893 0.0492 0.1595 0.21 0.17 0.1 0.05 0.175 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231393 NA NA 0.207005 0.071558 NA 0.225 NA 5.0858616 1143 6 74328252 74328252 C T intronic SLC17A5 NA NA NA ncRNA_exonic ENSG00000218459 NA NA NA Score=672;Name=lod=719 NA 6q13 NA NA NA NA rs62438456 0.16 0.16 0.149 0.153355 0.2475 0.0208 0.1297 0.202 0.1442 0.25 0.02 0.13 0.21 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382165 NA NA NA NA NA 0.159 NA 5.0858333 1143 11 130784707 130784707 C T exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon1:c.G1128A:p.P376P exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon1:c.G1128A:p.P376P,ENSG00000120451:ENST00000533214:exon1:c.G1128A:p.P376P NA NA 11q24.3 NA NA NA NA rs61736752 0.14 0.14 0.135 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 0.1743 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128738 NA NA 0.207936 0.071558 NA 0.217 NA 5.0856306 1143 16 2140454 2140454 T C exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon45:c.A12273G:p.A4091A,PKD1:NM_001009944:exon45:c.A12276G:p.A4092A exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon45:c.A12276G:p.A4092A,ENSG00000008710:ENST00000423118:exon45:c.A12273G:p.A4091A NA NA 16p13.3 NA NA NA NA rs3087632 0.26 0.26 0.262 0.276358 0.1988 NA 0.2104 0.7186 0.09 0.2 NA 0.23 0.69 0.196 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581834 NA NA 0.186393 0.600779 NA 0.297 NA 5.0854736 1143 11 130785205 130785205 G A exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon1:c.C630T:p.T210T exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon1:c.C630T:p.T210T,ENSG00000120451:ENST00000533214:exon1:c.C630T:p.T210T NA NA 11q24.3 NA NA NA NA rs3751035 0.14 0.14 0.141 0.127396 0.1988 0.1538 0.0893 0.0492 0.1595 0.2 0.17 0.1 0.05 0.1751 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688005 NA NA 0.207354 0.072013 NA 0.21 NA 5.0854126 1144 10 129322788 129322788 C T intergenic DOCK1,NPS dist=72008;dist=24825 NA NA intergenic ENSG00000150760,ENSG00000214285 dist=72007;dist=24825 NA NA NA NA 10q26.2 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=9 NA rs4751437 0.25 0.25 0.274 0.288738 0.2485 0.1111 0.1888 0.4826 0.3221 0.25 0.09 0.2 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493752 NA NA NA NA NA 0.384 NA 5.0848334 1144 2 220439678 220439678 C T exonic INHA NA synonymous SNV INHA:NM_002191:exon2:c.C531T:p.A177A exonic ENSG00000123999 NA synonymous SNV ENSG00000123999:ENST00000243786:exon2:c.C531T:p.A177A NA NA 2q35 NA NA NA NA rs12720063 0.19 0.19 0.147 0.153355 0.1968 0.2103 0.2464 0.0809 0.0818 0.2 0.22 0.24 0.1 0.1812 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672553 NA NA 0.204302 0.114389 NA 0.145 NA 5.0843646 1144 6 31083813 31083813 T C exonic CDSN NA nonsynonymous SNV CDSN:NM_001264:exon2:c.A1579G:p.N527D exonic ENSG00000204539 NA nonsynonymous SNV ENSG00000204539:ENST00000376288:exon2:c.A1579G:p.N527D NA NA 6p21.33 NA NA NA NA rs3130981 0.8 0.8 0.813 0.833666 0.7356 0.872 0.7666 0.913 0.8354 0.72 0.86 0.73 0.91 0.7639 0.91 1 T . . . . 0.284 N 1.000 P . . 3.58 T -0.954 T 0.001 T 0.015 -1.276 0.043 -1.19 -0.415 -0.104 4.482 -1.27559 NA 1 0.749514 0.899497 NA 0.833 NA 5.0843194 1144 18 56196451 56196451 C T exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon6:c.G5373A:p.K1791K exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon6:c.G5373A:p.K1791K Score=513;Name=lod=162 NA 18q21.31 NA NA NA NA rs7236563 0.42 0.42 0.378 0.373003 0.5815 0.2381 0.415 0.3169 0.3436 0.59 0.24 0.5 0.3 0.4641 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613339 NA NA 0.53686 0.357694 ID=COSM1389288;OCCURENCE=1(large_intestine) 0.471 NA 5.0842066 1144 17 7460517 7460517 G C exonic TNFSF12 NA synonymous SNV TNFSF12:NM_003809:exon7:c.G600C:p.A200A exonic ENSG00000239697 NA synonymous SNV ENSG00000239697:ENST00000293825:exon7:c.G600C:p.A200A NA NA 17p13.1 NA NA Name=5 NA rs3803798 0.52 0.52 0.511 0.547524 0.5139 0.6458 0.6167 0.4266 0.5951 0.52 0.6 0.55 0.39 0.5437 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726644 NA NA 0.524884 0.452565 ID=COSM292476;OCCURENCE=1(large_intestine) 0.529 NA 5.0841826 1144 12 101462556 101462556 C T intronic ANO4 NA NA NA ncRNA_exonic ENSG00000258033 NA NA NA Score=516;Name=lod=166 NA 12q23.1 NA NA NA NA rs626423 0.27 0.27 0.239 0.285543 0.2495 0.5675 0.2334 0.025 0.4213 0.23 0.55 0.24 0.04 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.526596 NA NA NA NA ID=COSN164341;OCCURENCE=1(breast) 0.13 NA 5.0838333 1144 19 51631165 51631165 C A intronic SIGLEC9 NA NA NA intronic ENSG00000129450 NA NA NA NA NA 19q13.41 NA Name=PU.1,eGFP-JunD,FOSL1_(SC-183),Egr-1,c-Jun,c-Fos,eGFP-JunB,ZBTB7A_(SC-34508),eGFP-FOS Name=48 NA rs867188 0.17 0.17 0.141 0.16254 0.33 0.0079 0.2406 0.0439 0.2546 0.33 0.01 0.26 0.05 0.267 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414325 NA NA 0.319651 0.095552 NA 0.225 NA 5.083349 1144 11 17566037 17566037 A C upstream USH1C NA NA NA upstream ENSG00000006611 NA NA NA NA NA 11p15.1 NA Name=Pol2-4H8 Name=13 NA rs1859819 0.59 0.59 0.532 0.605831 0.5835 0.5913 0.5576 0.6785 0.5798 0.55 0.59 0.54 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061405 NA NA NA NA NA 0.29 NA 5.0831666 1144 15 75980112 75980112 A G exonic CSPG4 NA synonymous SNV CSPG4:NM_001897:exon3:c.T3294C:p.A1098A exonic ENSG00000173546 NA synonymous SNV ENSG00000173546:ENST00000308508:exon3:c.T3294C:p.A1098A NA NA 15q24.2 Score=844;Name=V$AP4_01 NA NA NA rs4414463 0.44 0.44 0.396 0.441294 0.5229 0.3145 0.5548 0.4024 0.4601 0.52 0.29 0.54 0.41 0.5096 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493558 NA NA 0.551608 0.425125 NA 0.529 NA 5.0825586 1144 15 25318447 25318447 G A upstream;downstream SNORD116-10;SNORD116-3,SNORD116-9 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA Name=ZNF274 NA NA rs11638645 0.14 0.14 0.166 0.171526 0.0845 0.002 0.0821 0.5045 0.0491 0.08 0.0017 0.06 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833006 NA NA NA NA NA 0.138 NA 5.0821666 1144 4 43589844 43589844 T C intergenic GRXCR1,KCTD8 dist=557169;dist=586076 NA NA ncRNA_exonic ENSG00000251501 NA NA NA Score=295;Name=lod=21 NA 4p13 NA NA Name=12 NA rs4438794 0.64 0.64 0.603 0.615415 0.9185 0.621 0.6225 0.3245 0.6861 0.92 0.56 0.64 0.3 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.404993 1.404993 NA NA NA NA 0.732 NA 5.0815 1144 6 46129345 46129345 G A exonic ENPP5 NA synonymous SNV ENPP5:NM_021572:exon4:c.C1152T:p.T384T exonic ENSG00000112796 NA synonymous SNV ENSG00000112796:ENST00000230565:exon4:c.C1152T:p.T384T,ENSG00000112796:ENST00000371383:exon5:c.C1152T:p.T384T NA NA 6p21.1 Score=704;Name=V$HOX13_01 NA NA NA rs2235881 0.42 0.42 0.432 0.446486 0.5348 0.4494 0.4467 0.1899 0.6994 0.54 0.4 0.49 0.19 0.5167 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483318 NA NA 0.533953 0.238084 NA 0.406 NA 5.0812136 1144 10 97759626 97759626 A G ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_exonic ENSG00000227805 NA NA NA Score=733;Name=lod=1275 NA 10q24.1 NA NA NA NA rs2015029 0.65 0.65 0.619 0.624201 0.5855 0.8125 0.572 0.6036 0.5348 0.59 0.79 0.56 0.63 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28235 NA NA NA NA NA 0.551 NA 5.0811666 1144 3 190040008 190040008 C G UTR5 CLDN1 NM_021101:c.-13G>C NA NA UTR5 ENSG00000163347 ENST00000295522:c.-13G>C NA NA NA NA 3q28 NA Name=Pol2 NA NA rs17429833 0.06 0.06 0.044 0.0509185 0.0994 0.0129 0.0778 0.0287 0.0511 0.1 0.01 0.08 0.03 0.0682 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.37764 2.37764 NA 0.084903 0.030867 NA 0.036 NA 5.0808304 1144 7 56754398 56754398 A G intergenic DKFZp434L192,LOC100130849 dist=189421;dist=188680 NA NA intergenic ENSG00000228303,ENSG00000233437 dist=36009;dist=188680 NA NA Score=349;Name=lod=35 NA 7p11.2 NA Name=ZNF274 NA NA rs10274733 0.23 0.23 0.186 0.207668 0.2535 0.2004 0.2046 0.2163 0.1585 0.24 0.22 0.22 0.22 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368081 NA NA NA NA NA 0.188 NA 5.0798334 1144 10 116006436 116006436 T C intronic VWA2 NA NA NA ncRNA_exonic ENSG00000230165 NA NA NA Score=537;Name=lod=203 NA 10q25.3 NA NA NA NA rs3851559 0.22 0.22 0.195 0.211262 0.2535 0.0605 0.2378 0.3533 0.1125 0.24 0.06 0.26 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057013 NA NA NA NA NA 0.167 NA 5.0798333 1144 16 87870312 87870312 C T intronic SLC7A5 NA NA NA ncRNA_exonic ENSG00000260466 NA NA NA NA NA 16q24.2 NA Name=Pol2 NA NA rs12444670 0.2 0.2 0.22 0.239617 0.2535 0.0456 0.2262 0.2784 0.3824 0.25 0.04 0.26 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04672 NA NA NA NA NA 0.217 NA 5.0798333 1144 7 130021488 130021488 G C exonic CPA1 NA synonymous SNV CPA1:NM_001868:exon3:c.G165C:p.G55G exonic ENSG00000091704 NA synonymous SNV ENSG00000091704:ENST00000011292:exon3:c.G165C:p.G55G NA NA 7q32.2 Score=723;Name=V$P53_01 NA NA NA rs1126899 0.57 0.57 0.537 0.582268 0.5467 0.621 0.5504 0.6611 0.4949 0.54 0.58 0.56 0.61 0.5368 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390941 NA NA 0.503954 0.641852 NA 0.5 NA 5.0792126 1144 17 46607817 46607817 C T exonic HOXB1 NA synonymous SNV HOXB1:NM_002144:exon1:c.G450A:p.A150A exonic ENSG00000120094 NA synonymous SNV ENSG00000120094:ENST00000239174:exon1:c.G450A:p.A150A,ENSG00000120094:ENST00000577092:exon1:c.G450A:p.A150A NA NA 17q21.32 NA NA NA NA rs7207109 0.13 0.13 0.121 0.131789 0.2048 0.0972 0.1225 0.1082 0.1309 0.21 0.06 0.12 0.1 0.1754 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397485 NA NA 0.207674 0.124149 NA 0.174 NA 5.0787926 1144 2 100210074 100210074 G C exonic AFF3 NA synonymous SNV AFF3:NM_001025108:exon14:c.C2124G:p.S708S,AFF3:NM_002285:exon14:c.C2049G:p.S683S exonic ENSG00000144218 NA synonymous SNV ENSG00000144218:ENST00000409236:exon13:c.C2049G:p.S683S,ENSG00000144218:ENST00000317233:exon14:c.C2049G:p.S683S,ENSG00000144218:ENST00000356421:exon14:c.C2124G:p.S708S,ENSG00000144218:ENST00000409579:exon15:c.C2124G:p.S708S NA NA 2q11.2 NA NA NA NA rs1047281 0.14 0.14 0.174 0.146765 0.2038 0.0843 0.1239 0.087 0.2495 0.21 0.1 0.14 0.08 0.1851 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45531 NA NA 0.199394 0.115105 ID=COSM440885;OCCURENCE=1(breast) 0.225 NA 5.0783726 1144 15 56615958 56615958 G A intergenic RFX7,TEX9 dist=80475;dist=41686 NA NA intronic ENSG00000151575 NA NA NA Score=686;Name=lod=821 NA 15q21.3 NA NA Name=2 NA rs62047371 0.4 0.4 0.327 0.403754 0.5895 0.4008 0.5346 0.2163 0.3763 0.51 0.34 0.49 0.22 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292806 NA NA NA NA NA 0.043 NA 5.0771667 1144 19 690761 690761 A T intronic PRSS57 NA NA NA ncRNA_exonic ENSG00000213726 NA NA NA Score=812;Name=lod=2648 NA 19p13.3 NA NA NA NA rs10422514 0.33 0.33 0.018 0.363219 0.2565 0.3968 0.1945 0.5862 0.2566 0.24 0.37 0.18 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040681 NA NA NA NA NA NA NA 5.0768333 1144 19 690762 690762 T G intronic PRSS57 NA NA NA ncRNA_exonic ENSG00000213726 NA NA NA Score=812;Name=lod=2648 NA 19p13.3 NA NA NA NA rs10402839 0.33 0.33 0.053 0.363219 0.2565 0.3968 0.1945 0.5862 0.2566 0.24 0.37 0.18 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241565 NA NA NA NA NA NA NA 5.0768333 1144 1 26872554 26872554 A G intronic RPS6KA1 NA NA NA intronic ENSG00000117676 NA NA NA NA NA 1p36.11 NA Name=Pol2 Name=4 NA rs12723936 0.46 0.46 0.444 0.505591 0.2833 0.7659 0.366 0.4917 0.5838 0.29 0.75 0.35 0.48 0.3825 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.403372 1.403372 NA 0.257385 0.445983 NA 0.384 NA 5.076815 1144 20 47244523 47244523 A G intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA Name=c-Myc Name=6 NA rs8121156 0.28 0.28 0.217 0.294129 0.2952 0.1458 0.3069 0.3676 0.3374 0.28 0.14 0.34 0.37 0.3324 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320025 NA NA 0.29618 0.347885 NA 0.159 NA 5.07622 1144 12 109095137 109095137 A G intronic CORO1C NA NA NA intronic ENSG00000110880 NA NA NA NA NA 12q24.11 NA Name=Pol2,KAP1 Name=42 NA rs3741782 0.23 0.23 0.213 0.2498 0.2982 0.3839 0.2075 0.0106 0.4151 0.31 0.34 0.21 0.01 0.3102 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775309 NA NA 0.315814 0.064911 NA 0.203 NA 5.075786 1144 6 24583804 24583804 T A intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA Name=YY1_(C-20),SMC3_(ab9263),CTCF_(SC-5916),RFX5_(N-494),CTCFL_(SC-98982),Znf143_(16618-1-AP),CTCF,CTCF_(C-20),Rad21 Name=133 NA rs6901322 0.51 0.51 0.508 0.52496 0.2644 0.747 0.5418 0.621 0.4223 0.27 0.73 0.54 0.62 0.3791 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395244 NA NA 0.281163 0.55901 NA 0.594 NA 5.075337 1144 1 26662904 26662904 C T intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA NA 1p36.11 NA Name=ZNF263,Pol2-4H8,Pol2 Name=55 NA rs72649360 0.26 0.26 0.233 0.210264 0.3022 0.2639 0.2507 0.1331 0.136 0.32 0.26 0.27 0.17 0.3128 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199669 NA NA 0.309884 0.167575 NA 0.254 NA 5.075116 1145 3 157004141 157004141 G A intronic VEPH1 NA NA NA ncRNA_intronic ENSG00000243176 NA NA NA NA NA 3q25.32 NA Name=c-Fos NA NA rs4680352 0.26 0.26 0.218 0.227835 0.2584 0.3343 0.4712 0.0333 0.1769 0.25 0.36 0.42 0.05 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44844 NA NA NA NA NA 0.152 NA 5.0749333 1145 4 57461019 57461019 C T intronic THEGL NA NA NA ncRNA_exonic ENSG00000248590 NA NA NA Score=772;Name=lod=1834 NA 4q12 NA NA NA NA rs11946383 0.36 0.36 0.35 0.417532 0.2584 0.4544 0.3516 0.5424 0.4213 0.25 0.41 0.35 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224875 NA NA NA NA NA 0.391 NA 5.0749333 1145 20 32340077 32340077 A G intronic ZNF341 NA NA NA ncRNA_exonic ENSG00000230837 NA NA NA Score=717;Name=lod=1091 NA 20q11.22 NA NA NA NA rs2626537 0.47 0.47 0.467 0.484824 0.2584 0.7133 0.2565 0.6475 0.4243 0.26 0.71 0.28 0.64 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090614 NA NA NA NA NA 0.522 NA 5.0749333 1145 3 142168331 142168331 C T exonic ATR NA synonymous SNV ATR:NM_001184:exon47:c.G7875A:p.Q2625Q exonic ENSG00000175054 NA synonymous SNV ENSG00000175054:ENST00000383101:exon46:c.G7683A:p.Q2561Q,ENSG00000175054:ENST00000350721:exon47:c.G7875A:p.Q2625Q Score=594;Name=lod=346 NA 3q23 NA NA NA NA rs1802904 0.9 0.9 0.92 0.916334 0.8658 0.9266 0.8084 0.9856 0.9407 0.86 0.93 0.83 0.99 0.8646 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900501 NA NA 0.861395 0.968906 NA 0.877 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079601.1;CLNDSDB=.;CLNDSDBID=. 5.0748716 1145 6 155635624 155635624 A G upstream TFB1M NA NA NA upstream ENSG00000029639 NA NA NA NA NA 6q25.3 NA Name=YY1,Pol2,RFX5_(N-494),PU.1,SP1,ZNF263,c-Fos,Pol2-4H8,YY1_(C-20),HA-E2F1,Sin3Ak-20,NF-YA,SP2_(SC-643),Pol2(b),TAF1,GABP,POU2F2,Nrf1,CHD2_(N-1250),TBP,ELF1_(SC-631),HEY1,NFKB,c-Myc,Oct-2,NF-YB,PAX5-C20 Name=148 NA rs1334688 0.61 0.61 0.56 0.615016 0.5924 0.8145 0.7161 0.3631 0.7014 0.59 0.82 0.69 0.36 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357531 NA NA NA NA NA 0.522 NA 5.0742666 1145 6 155635637 155635637 A C upstream TFB1M NA NA NA upstream ENSG00000029639 NA NA NA NA NA 6q25.3 NA Name=SP2_(SC-643),NF-YA,Pol2(b),TAF1,GABP,POU2F2,YY1,SP1,PU.1,RFX5_(N-494),Pol2,c-Fos,Pol2-4H8,ZNF263,Sin3Ak-20,HA-E2F1,YY1_(C-20),NFKB,HEY1,ELF1_(SC-631),c-Myc,CCNT2,Oct-2,PAX5-C20,NF-YB,Nrf1,CHD2_(N-1250),TBP Name=148 NA rs1334687 0.61 0.61 0.563 0.615016 0.5924 0.8145 0.7161 0.3631 0.7014 0.59 0.82 0.69 0.36 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7918 NA NA NA NA NA 0.529 NA 5.0742666 1145 1 78557486 78557486 A G intronic GIPC2 NA NA NA ncRNA_exonic ENSG00000213560 NA NA NA Score=709;Name=lod=1019 NA 1p31.1 NA NA NA NA rs485005 0.28 0.28 0.272 0.238419 0.2594 0.505 0.1585 0.1604 0.1043 0.24 0.49 0.16 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144384 NA NA NA NA NA 0.29 NA 5.0739333 1145 1 78557514 78557514 G A intronic GIPC2 NA NA NA ncRNA_exonic ENSG00000213560 NA NA NA Score=709;Name=lod=1019 NA 1p31.1 NA NA NA NA rs631045 0.28 0.28 0.269 0.238419 0.2594 0.504 0.1585 0.1604 0.1053 0.24 0.49 0.16 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.291692 1.291692 NA NA NA NA 0.29 NA 5.0739333 1145 1 78557608 78557608 A G intronic GIPC2 NA NA NA ncRNA_exonic ENSG00000213560 NA NA NA Score=709;Name=lod=1019 NA 1p31.1 NA NA NA NA rs630640 0.28 0.28 0.295 0.238219 0.2594 0.504 0.1585 0.1604 0.1043 0.24 0.49 0.16 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601377 NA NA NA NA NA 0.29 NA 5.0739333 1145 1 78557664 78557664 A C intronic GIPC2 NA NA NA ncRNA_exonic ENSG00000213560 NA NA NA Score=709;Name=lod=1019 NA 1p31.1 NA NA NA NA rs630245 0.28 0.28 0.275 0.238219 0.2594 0.504 0.1585 0.1604 0.1043 0.24 0.49 0.16 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012174 NA NA NA NA NA 0.29 NA 5.0739333 1145 1 110201699 110201699 T C exonic GSTM4 NA synonymous SNV GSTM4:NM_000850:exon7:c.T534C:p.F178F,GSTM4:NM_147148:exon7:c.T534C:p.F178F exonic ENSG00000168765 NA synonymous SNV ENSG00000168765:ENST00000336075:exon5:c.T351C:p.F117F,ENSG00000168765:ENST00000369833:exon5:c.T411C:p.F137F,ENSG00000168765:ENST00000326729:exon7:c.T534C:p.F178F,ENSG00000168765:ENST00000369836:exon7:c.T534C:p.F178F Score=397;Name=lod=55 NA 1p13.3 Score=935;Name=V$CEBP_01 NA NA NA rs506008 0.74 0.74 0.795 0.805312 0.8598 0.9702 0.8732 0.5681 0.8517 0.8 0.9 0.79 0.43 0.8598 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499926 NA NA 0.873516 0.613709 NA 0.696 NA 5.0735506 1145 2 33500848 33500848 A G intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA Name=c-Fos,c-Jun,TCF4,GABP,FOXA1_(C-20),FOSL2,ELF1_(SC-631),FOXA1_(SC-101058),ZBTB7A_(SC-34508),GR Name=122 NA rs3816479 0.21 0.21 0.213 0.183906 0.33 0.2431 0.2003 0.0166 0.1871 0.34 0.22 0.2 0.03 0.2705 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147435 NA NA 0.326279 0.067408 NA 0.196 NA 5.073221 1145 14 95923670 95923670 A C exonic SYNE3 NA synonymous SNV SYNE3:NM_152592:exon4:c.T633G:p.R211R exonic ENSG00000176438 NA synonymous SNV ENSG00000176438:ENST00000334258:exon4:c.T633G:p.R211R,ENSG00000176438:ENST00000553340:exon4:c.T633G:p.R211R,ENSG00000176438:ENST00000557275:exon4:c.T633G:p.R211R NA NA 14q32.13 NA Name=Pol2 NA NA rs2024863 0.61 0.61 0.591 0.624002 0.508 0.5813 0.6873 0.7806 0.5307 0.51 0.59 0.67 0.75 0.572 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776131 NA NA 0.513721 0.735588 NA 0.667 NA 5.0729456 1145 5 78340257 78340257 C G exonic DMGDH NA synonymous SNV DMGDH:NM_013391:exon6:c.G864C:p.L288L exonic ENSG00000132837 NA synonymous SNV ENSG00000132837:ENST00000380311:exon3:c.G261C:p.L87L,ENSG00000132837:ENST00000523732:exon3:c.G381C:p.L127L,ENSG00000132837:ENST00000255189:exon6:c.G864C:p.L288L Score=516;Name=lod=167 NA 5q14.1 NA NA NA NA rs248385 0.61 0.61 0.6 0.615216 0.506 0.7798 0.5879 0.6271 0.5613 0.5 0.78 0.61 0.58 0.5614 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93437 NA NA 0.526395 0.600999 NA 0.551 NA 5.0728716 1145 6 31322996 31322996 C T exonic HLA-B NA synonymous SNV HLA-B:NM_005514:exon5:c.G900A:p.P300P exonic ENSG00000234745 NA synonymous SNV ENSG00000234745:ENST00000412585:exon5:c.G900A:p.P300P NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 NA NA rs2074496 0.63 0.63 0.584 0.66254 0.5239 0.7063 0.6484 0.7315 0.6769 0.52 0.67 0.68 0.7 0.5759 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017145 NA NA 0.494094 0.676042 NA 0.587 NA 5.0727726 1145 22 17674117 17674117 C T intronic CECR1 NA NA NA ncRNA_exonic ENSG00000236325 NA NA NA Score=691;Name=lod=854 NA 22q11.1 NA NA NA NA rs4819973 0.17 0.17 0.154 0.196685 0.2614 0.0387 0.1859 0.233 0.2515 0.27 0.02 0.18 0.18 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113884 NA NA NA NA NA 0.232 NA 5.0719333 1145 10 30901756 30901756 G A exonic LYZL2 NA synonymous SNV LYZL2:NM_183058:exon4:c.C510T:p.N170N exonic ENSG00000151033 NA synonymous SNV ENSG00000151033:ENST00000375318:exon4:c.C510T:p.N170N NA NA 10p11.23 Score=782;Name=V$CDP_01 NA NA NA rs9954 0.42 0.42 0.402 0.367612 0.5527 0.2639 0.4063 0.3464 0.2853 0.58 0.26 0.43 0.36 0.4826 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072378 NA NA 0.559767 0.411484 NA 0.391 NA 5.0715996 1145 9 37974743 37974743 T C exonic SHB NA synonymous SNV SHB:NM_003028:exon3:c.A930G:p.S310S exonic ENSG00000107338 NA synonymous SNV ENSG00000107338:ENST00000377707:exon3:c.A930G:p.S310S NA NA 9p13.2 NA NA Name=56 NA rs1138374 0.62 0.62 0.616 0.621805 0.5328 0.7768 0.513 0.7156 0.5041 0.52 0.75 0.5 0.7 0.5462 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537429 NA NA 0.51616 0.688959 NA 0.609 NA 5.0715066 1145 9 32566400 32566400 A T ncRNA_exonic TOPORS-AS1 NA NA NA ncRNA_exonic ENSG00000232303,ENSG00000235453 NA NA NA Score=600;Name=lod=367 NA 9p21.1 NA NA NA NA rs593700 0.48 0.48 0.471 0.514776 0.5954 0.2212 0.5187 0.6309 0.5746 0.58 0.22 0.54 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411966 NA NA NA NA NA 0.623 NA 5.0712666 1145 1 235652513 235652513 T C exonic B3GALNT2 NA synonymous SNV B3GALNT2:NM_152490:exon3:c.A321G:p.E107E,B3GALNT2:NM_001277155:exon4:c.A444G:p.E148E exonic ENSG00000162885 NA synonymous SNV ENSG00000162885:ENST00000366600:exon3:c.A321G:p.E107E,ENSG00000162885:ENST00000313984:exon4:c.A444G:p.E148E Score=441;Name=lod=83 NA 1q42.3 NA NA NA NA rs291396 0.65 0.65 0.63 0.678714 0.5139 0.8413 0.7104 0.5893 0.7791 0.52 0.85 0.71 0.6 0.584 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188677 NA NA 0.498488 0.564685 NA 0.667 NA 5.0702786 1145 6 29142054 29142054 C G exonic OR2J2 NA synonymous SNV OR2J2:NM_030905:exon1:c.C642G:p.L214L exonic ENSG00000204700 NA synonymous SNV ENSG00000204700:ENST00000377167:exon1:c.C642G:p.L214L Score=251;Name=lod=14 NA 6p22.1 NA NA NA NA rs3129159 0.4 0.4 0.363 0.377995 0.5477 0.378 0.451 0.112 0.5112 0.58 0.37 0.46 0.12 0.5055 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.592115 NA NA 0.543195 0.188432 NA 0.341 NA 5.0702716 1145 15 84408546 84408546 A G intronic ADAMTSL3 NA NA NA ncRNA_exonic ENSG00000261665 NA NA NA Score=608;Name=lod=396 NA 15q25.2 NA NA NA NA rs2585065 0.17 0.17 0.15 0.146965 0.2634 0.0605 0.3689 0.0197 0.1309 0.26 0.07 0.34 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646525 NA NA NA NA NA 0.145 NA 5.0699333 1145 6 32784620 32784620 C T intronic HLA-DOB NA NA NA intronic ENSG00000241106,ENSG00000250264 NA NA NA NA NA 6p21.32 NA Name=Pol2 Name=11 NA rs2071472 0.3 0.3 0.278 0.308906 0.3082 0.3651 0.3487 0.1369 0.456 0.3 0.38 0.34 0.16 0.3308 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50781 NA NA 0.291067 0.156519 NA 0.232 NA 5.069933 1145 19 54848684 54848684 G A exonic LILRA4 NA synonymous SNV LILRA4:NM_012276:exon5:c.C939T:p.D313D exonic ENSG00000239961 NA synonymous SNV ENSG00000239961:ENST00000595581:exon1:c.C36T:p.D12D,ENSG00000239961:ENST00000291759:exon5:c.C939T:p.D313D NA NA 19q13.42 NA NA NA NA rs8105624 0.21 0.21 0.164 0.196885 0.2008 0.2609 0.2075 0.1611 0.1677 0.21 0.21 0.23 0.18 0.2034 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029385 NA NA 0.192604 0.162648 NA 0.196 NA 5.0698626 1145 15 20874897 20874897 A G ncRNA_exonic NBEAP1 NA NA NA ncRNA_exonic ENSG00000258590 NA NA NA Score=659;Name=lod=635 NA 15q11.2 NA NA NA NA rs7497658 NA NA 0.562 NA NA NA NA NA NA NA NA NA NA 0.5971 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09485 NA 1 NA NA NA 0.58 NA 5.0695666 1145 2 196860081 196860081 C A intronic DNAH7 NA NA NA ncRNA_exonic ENSG00000203435 NA NA NA Score=624;Name=lod=459 NA 2q32.3 NA NA NA NA rs11681259 0.13 0.13 0.135 0.117812 0.2644 0.0427 0.1326 0.0098 0.18 0.27 0.03 0.15 0.02 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060692 NA NA NA NA NA 0.181 NA 5.0689333 1145 15 20876515 20876515 A G ncRNA_exonic NBEAP1 NA NA NA ncRNA_exonic ENSG00000258590 NA NA NA Score=627;Name=lod=469 NA 15q11.2 NA NA NA NA rs6422240 NA NA 0.561 NA NA NA NA NA NA NA NA NA NA 0.5984 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256012 NA 0.79 NA NA NA 0.609 NA 5.0682666 1145 4 57798189 57798189 G A exonic REST NA synonymous SNV REST:NM_001193508:exon4:c.G3165A:p.A1055A,REST:NM_005612:exon4:c.G3165A:p.A1055A exonic ENSG00000084093 NA synonymous SNV ENSG00000084093:ENST00000309042:exon4:c.G3165A:p.A1055A NA NA 4q12 NA NA NA NA rs2227901 0.24 0.24 0.239 0.253594 0.1849 0.3661 0.2161 0.2595 0.227 0.19 0.35 0.19 0.23 0.2227 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.649333 NA NA 0.190814 0.236269 NA 0.203 NA 5.0682526 1145 4 57460296 57460296 G C intronic THEGL NA NA NA ncRNA_exonic ENSG00000248590 NA NA NA Score=540;Name=lod=209 NA 4q12 NA NA NA NA rs60400284 0.28 0.28 0.245 0.267772 0.2654 0.495 0.3256 0.0582 0.2781 0.26 0.46 0.31 0.07 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.524116 NA NA NA NA NA 0.304 NA 5.0679333 1145 7 48028512 48028512 G C intronic SUN3 NA NA NA intronic ENSG00000164744 NA NA NA NA NA 7p12.3 NA Name=CTCF_(SC-5916),CTCF_(C-20),Rad21,CTCF Name=34 NA rs3736547 0.29 0.29 0.258 0.253594 0.3082 0.4484 0.3458 0.0673 0.183 0.33 0.42 0.32 0.08 0.3073 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576286 NA NA 0.316818 0.122162 NA 0.304 NA 5.067682 1145 8 22069386 22069386 T C UTR3 BMP1 NM_006129:c.*145T>C NA NA UTR3 ENSG00000168487 ENST00000306385:c.*145T>C,ENST00000354870:c.*2363T>C,ENST00000520970:c.*1470T>C,ENST00000520626:c.*3638T>C,ENST00000520982:c.*2573T>C NA NA NA NA 8p21.3 NA Name=Pol2,Pol2-4H8,Egr-1,HEY1 NA NA rs7001 0.15 0.15 0.131 0.133986 0.2664 0.006 0.1239 0.143 0.1247 0.27 0.0035 0.14 0.13 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863236 NA NA NA NA NA 0.21 NA 5.0669334 1145 8 82752291 82752291 A G UTR5 SNX16 NM_022133:c.-70T>C,NM_152837:c.-70T>C,NM_152836:c.-70T>C NA NA UTR5 ENSG00000104497 ENST00000353788:c.-70T>C,ENST00000396330:c.-70T>C,ENST00000345957:c.-70T>C,ENST00000520618:c.-70T>C,ENST00000521810:c.-70T>C,ENST00000523757:c.-70T>C,ENST00000519119:c.-70T>C,ENST00000519817:c.-70T>C,ENST00000518183:c.-70T>C,ENST00000521773:c.-70T>C NA NA Score=417;Name=lod=66 NA 8q21.13 NA NA NA NA rs12056632 0.27 0.27 0.258 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.073214 3.073214 NA NA NA NA 0.217 NA 5.0669334 1145 8 82720351 82720351 C A intronic SNX16 NA NA NA ncRNA_exonic ENSG00000231942 NA NA NA Score=671;Name=lod=708 NA 8q21.13 NA NA NA NA rs2600603 0.27 0.27 0.249 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.850117 1.850117 0.05 NA NA NA 0.217 NA 5.0669333 1145 8 82720404 82720404 T C intronic SNX16 NA NA NA ncRNA_exonic ENSG00000231942 NA NA NA Score=671;Name=lod=708 NA 8q21.13 NA NA NA NA rs2635487 0.27 0.27 0.265 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771395 NA 0.43 NA NA NA 0.217 NA 5.0669333 1145 19 19136541 19136541 C T exonic SUGP2 NA nonsynonymous SNV SUGP2:NM_001017392:exon3:c.G616A:p.G206S,SUGP2:NM_014884:exon3:c.G616A:p.G206S exonic ENSG00000064607 NA nonsynonymous SNV ENSG00000064607:ENST00000330854:exon3:c.G616A:p.G206S,ENSG00000064607:ENST00000337018:exon3:c.G616A:p.G206S,ENSG00000064607:ENST00000452918:exon3:c.G616A:p.G206S,ENSG00000064607:ENST00000594773:exon3:c.G616A:p.G206S,ENSG00000064607:ENST00000600239:exon3:c.G616A:p.G206S,ENSG00000064607:ENST00000600377:exon3:c.G658A:p.G220S,ENSG00000064607:ENST00000601879:exon3:c.G616A:p.G206S NA NA 19p13.11 NA NA NA NA rs4808907 0.78 0.78 0.786 0.78774 0.7684 0.881 0.8012 0.7398 0.7669 0.75 0.87 0.77 0.72 0.7552 0.87 0.59 T 0.001 B 0.001 B 0.031 N 1.000 P -0.345 N 3.11 T -1.069 T 0.000 T 0.052 -1.97 0.007 -0.724 -0.931 -0.082 8.138 -1.969664 NA 0.8 0.743023 0.687245 NA 0.623 NA 5.0667104 1145 11 113103996 113103996 T G exonic NCAM1 NA synonymous SNV NCAM1:NM_000615:exon13:c.T1620G:p.V540V,NCAM1:NM_001076682:exon13:c.T1620G:p.V540V,NCAM1:NM_001242608:exon13:c.T1620G:p.V540V,NCAM1:NM_181351:exon14:c.T1650G:p.V550V,NCAM1:NM_001242607:exon15:c.T1728G:p.V576V exonic ENSG00000149294 NA synonymous SNV ENSG00000149294:ENST00000531817:exon2:c.T150G:p.V50V,ENSG00000149294:ENST00000316851:exon12:c.T1620G:p.V540V,ENSG00000149294:ENST00000524665:exon12:c.T1797G:p.V599V,ENSG00000149294:ENST00000533760:exon12:c.T1266G:p.V422V,ENSG00000149294:ENST00000401611:exon13:c.T1647G:p.V549V Score=300;Name=lod=22 NA 11q23.2 NA NA NA NA rs584427 0.65 0.65 0.669 0.667931 0.506 0.7312 0.5014 0.9077 0.5634 0.52 0.71 0.47 0.91 0.561 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.005365 NA NA 0.532977 0.854207 NA 0.652 NA 5.0666896 1145 6 31079236 31079236 G A exonic C6orf15 NA synonymous SNV C6orf15:NM_014070:exon2:c.C900T:p.V300V exonic ENSG00000204542 NA synonymous SNV ENSG00000204542:ENST00000259870:exon2:c.C900T:p.V300V NA NA 6p21.33 NA NA Name=2 NA rs1265055 0.52 0.52 0.496 0.531749 0.5139 0.4871 0.5663 0.5461 0.5521 0.5 0.47 0.57 0.56 0.537 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161191 NA NA 0.549096 0.574042 NA 0.572 NA 5.0666706 1145 17 56636908 56636908 T C exonic TEX14 NA synonymous SNV TEX14:NM_031272:exon30:c.A4173G:p.K1391K,TEX14:NM_001201457:exon31:c.A4311G:p.K1437K,TEX14:NM_198393:exon31:c.A4293G:p.K1431K exonic ENSG00000121101 NA synonymous SNV ENSG00000121101:ENST00000349033:exon30:c.A4173G:p.K1391K,ENSG00000121101:ENST00000240361:exon31:c.A4311G:p.K1437K,ENSG00000121101:ENST00000389934:exon31:c.A4293G:p.K1431K NA NA 17q22 NA NA NA NA rs9903050 0.23 0.23 0.223 0.276558 0.1978 0.3036 0.1182 0.3359 0.362 0.19 0.27 0.14 0.33 0.2177 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476885 NA NA 0.184535 0.294144 NA 0.145 NA 5.0666316 1145 1 152277396 152277396 T C exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.A9966G:p.Q3322Q exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.A9966G:p.Q3322Q NA NA 1q21.3 NA NA NA NA rs6681433 0.31 0.31 0.275 0.341054 0.171 0.6062 0.4193 0.115 0.4928 0.17 0.62 0.35 0.13 0.2611 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335954 NA NA 0.168256 0.132093 NA 0.181 NA 5.0663106 1145 1 17017734 17017734 C T ncRNA_exonic ESPNP NA NA NA ncRNA_exonic ENSG00000268869 NA NA NA Score=586;Name=lod=321 NA 1p36.13 NA NA NA NA rs12561805 NA NA 0.194 0.290136 0.2913 0.4425 0.3184 0.1589 0.2894 NA NA NA NA 0.3092 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.256877 1.256877 NA NA NA NA 0.196 NA 5.0661666 1146 18 24180263 24180263 G A intronic KCTD1 NA NA NA ncRNA_exonic ENSG00000263846 NA NA NA Score=564;Name=lod=261 NA 18q11.2 NA NA NA NA rs73944644 0.18 0.18 0.185 0.18111 0.2684 0.1062 0.1657 0.1641 0.2025 0.25 0.08 0.2 0.18 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382709 NA NA NA NA NA 0.13 NA 5.0649333 1146 8 53555069 53555069 A G exonic RB1CC1 NA synonymous SNV RB1CC1:NM_001083617:exon18:c.T4179C:p.R1393R,RB1CC1:NM_014781:exon18:c.T4179C:p.R1393R exonic ENSG00000023287 NA synonymous SNV ENSG00000023287:ENST00000539297:exon16:c.T4179C:p.R1393R,ENSG00000023287:ENST00000025008:exon18:c.T4179C:p.R1393R,ENSG00000023287:ENST00000435644:exon18:c.T4179C:p.R1393R NA NA 8q11.23 NA NA NA NA rs2305427 0.33 0.33 0.308 0.28754 0.2048 0.6548 0.3199 0.0885 0.2403 0.21 0.69 0.29 0.12 0.231 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915682 NA NA 0.166163 0.091012 NA 0.304 NA 5.0647036 1146 7 5569327 5569327 G A intronic ACTB NA NA NA intronic ENSG00000075624 NA NA NA NA NA 7p22.1 NA Name=CTCF,p300,ELF1_(SC-631),Rad21,Oct-2,Pol2,Pol2(phosphoS2),SMC3_(ab9263),YY1_(C-20),TAF7_(SQ-8),GATA3_(SC-268),E2F6,GATA-1,TAF1,ETS1,CTCFL_(SC-98982),POU2F2,GABP,HMGN3,ZBTB33,IRF1,GATA2_(CG2-96),CCNT2,HEY1,NFKB,SRF,MafK_(ab50322),CTCF_(SC-5916),Egr-1,Sin3Ak-20,Pol2-4H8,Pol2(b),ELK4 Name=146 NA rs2908425 0.29 0.29 0.264 0.28754 0.3062 0.1845 0.3141 0.3517 0.2689 0.3 0.18 0.35 0.36 0.3263 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115384 NA NA 0.3028 0.305017 NA 0.196 NA 5.0647 1146 2 201437214 201437214 A G exonic SGOL2 NA synonymous SNV SGOL2:NM_001160033:exon7:c.A2145G:p.K715K,SGOL2:NM_001160046:exon7:c.A2145G:p.K715K,SGOL2:NM_152524:exon7:c.A2145G:p.K715K exonic ENSG00000163535 NA synonymous SNV ENSG00000163535:ENST00000357799:exon7:c.A2145G:p.K715K NA NA 2q33.1 NA NA NA NA rs17532679 0.12 0.12 0.127 0.123802 0.2207 0.0794 0.1138 0.0711 0.1483 0.2 0.07 0.11 0.07 0.1814 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096436 NA NA 0.200123 0.097406 ID=COSM149040;OCCURENCE=1(stomach) 0.116 NA 5.0644436 1146 1 161654693 161654693 A G ncRNA_exonic RPL31P11 NA NA NA ncRNA_exonic ENSG00000213075 NA NA NA Score=719;Name=lod=1112 NA 1q23.3 NA NA NA NA rs1256287 0.6 0.6 0.568 0.579073 0.6024 0.7242 0.6859 0.379 0.6002 0.6 0.72 0.66 0.4 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.724117 1.724117 NA NA NA NA 0.638 NA 5.0642666 1146 12 104698582 104698582 A G exonic EID3 NA synonymous SNV EID3:NM_001008394:exon1:c.A870G:p.Q290Q exonic ENSG00000255150 NA synonymous SNV ENSG00000255150:ENST00000527879:exon1:c.A870G:p.Q290Q NA NA 12q23.3 NA NA Name=37 NA rs11111987 0.5 0.5 0.482 0.494609 0.5258 0.6111 0.5216 0.3623 0.502 0.5 0.6 0.51 0.36 0.526 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.304477 NA NA 0.550608 0.411686 NA 0.565 NA 5.0642586 1146 1 152276889 152276889 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T10473C:p.N3491N exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T10473C:p.N3491N NA NA 1q21.3 NA NA NA NA rs3126067 0.44 0.44 0.43 0.522564 0.1511 0.6498 0.4553 0.7912 0.4581 0.15 0.61 0.37 0.74 0.3007 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436513 NA NA 0.151036 0.68906 NA 0.275 NA 5.0638306 1146 12 123344910 123344910 A C intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA Name=Rad21,Oct-2,CTCF,Znf143_(16618-1-AP),CTCFL_(SC-98982),GABP,POU2F2,SMC3_(ab9263),YY1_(C-20),CTCF_(C-20),CTCF_(SC-5916),Pol2-4H8,HDAC2_(SC-6296),Pbx3 Name=141 NA rs937765 0.95 0.95 0.942 0.934904 0.9364 0.9901 0.9798 0.9319 0.8487 0.93 0.99 0.97 0.93 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43687 NA NA NA NA NA 0.891 NA 5.0636 1146 13 38357471 38357471 G A UTR5 TRPC4 NM_001135958:c.-1C>T,NM_001135957:c.-1C>T,NM_001135956:c.-1C>T,NM_003306:c.-1C>T,NM_001135955:c.-1C>T,NM_016179:c.-1C>T NA NA UTR5 ENSG00000133107 ENST00000379705:c.-1C>T,ENST00000338947:c.-1C>T,ENST00000379681:c.-1C>T,ENST00000426868:c.-1C>T,ENST00000379673:c.-1C>T,ENST00000358477:c.-1C>T,ENST00000355779:c.-1C>T,ENST00000447043:c.-1C>T NA NA Score=611;Name=lod=406 NA 13q13.3 Score=795;Name=V$BACH1_01 NA NA NA rs3904512 0.35 0.35 0.371 0.363019 0.4205 0.2183 0.3329 0.4304 0.3834 0.41 0.23 0.36 0.4 0.404 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.886452 2.886452 NA 0.445452 0.434862 NA 0.406 NA 5.0633814 1146 1 165551490 165551490 C T upstream LOC400794 NA NA NA ncRNA_exonic ENSG00000237783 NA NA NA Score=809;Name=lod=2581 NA 1q24.1 NA NA NA NA rs7512192 0.07 0.07 0.073 0.0587061 0.1034 NA 0.062 0.1014 0.0133 0.1 NA 0.06 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234227 NA NA NA NA NA 0.065 NA 5.0632666 1146 16 81061827 81061827 G A exonic CENPN NA nonsynonymous SNV CENPN:NM_001270473:exon9:c.G802A:p.E268K,CENPN:NM_001270474:exon9:c.G760A:p.E254K,CENPN:NM_001100624:exon10:c.G862A:p.E288K,CENPN:NM_001100625:exon10:c.G862A:p.E288K exonic ENSG00000166451 NA nonsynonymous SNV ENSG00000166451:ENST00000428963:exon9:c.G760A:p.E254K,ENSG00000166451:ENST00000439957:exon9:c.G802A:p.E268K,ENSG00000166451:ENST00000305850:exon10:c.G862A:p.E288K,ENSG00000166451:ENST00000393335:exon10:c.G862A:p.E288K NA NA 16q23.2 NA NA NA NA rs2549887 0.59 0.59 0.561 0.597244 0.7694 0.5456 0.6412 0.32 0.817 0.77 0.54 0.64 0.34 0.7104 0.79 0.74 T 0.001 B 0.007 B 0.012 N 0.003 P -0.18 N 2.02 T -1.025 T 0.000 T 0.05 1.036 9.231 -1.92 -0.569 0.124 8.592 1.035856 NA 0.58 0.790598 0.40365 NA 0.638 NA 5.0629354 1146 5 134871440 134871440 A C UTR5 NEUROG1 NM_006161:c.-60T>G NA NA UTR5 ENSG00000181965 ENST00000314744:c.-60T>G NA NA NA NA 5q31.1 NA Name=SUZ12 NA NA rs8192558 0.19 0.19 0.19 0.207668 0.2704 0.2063 0.2305 0.0877 0.2904 0.26 0.18 0.21 0.08 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125587 NA NA NA NA NA 0.087 NA 5.0629334 1146 8 141568622 141568622 G A exonic AGO2 NA synonymous SNV AGO2:NM_001164623:exon7:c.C840T:p.R280R,AGO2:NM_012154:exon7:c.C840T:p.R280R exonic ENSG00000123908 NA synonymous SNV ENSG00000123908:ENST00000220592:exon7:c.C840T:p.R280R,ENSG00000123908:ENST00000519980:exon7:c.C840T:p.R280R NA NA 8q24.3 NA NA Name=12 NA rs2292778 0.62 0.62 0.617 0.655551 0.493 0.6022 0.6095 0.8691 0.6217 0.5 0.6 0.59 0.84 0.5789 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738365 NA NA 0.532442 0.815252 NA 0.652 NA 5.0623246 1146 12 13154790 13154790 G C ncRNA_exonic HTR7P1 NA NA NA ncRNA_exonic ENSG00000183935 NA NA NA Score=756;Name=lod=1582 NA 12p13.1 NA NA NA NA rs1291363 0.44 0.44 0.422 0.429513 0.6044 0.378 0.4827 0.1899 0.589 0.61 0.38 0.49 0.22 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.822199 1.822199 NA NA NA NA 0.377 NA 5.0622666 1146 5 137603293 137603293 G A intronic GFRA3 NA NA NA ncRNA_exonic ENSG00000249851 NA NA NA Score=692;Name=lod=864 NA 5q31.2 NA NA NA NA rs33967909 0.34 0.34 0.327 0.324281 0.2714 0.6121 0.2637 0.2693 0.1994 0.27 0.59 0.23 0.26 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879607 NA NA NA NA NA 0.261 NA 5.0619333 1146 12 113416653 113416653 G A intronic OAS2 NA NA NA ncRNA_intronic ENSG00000257452 NA NA NA NA NA 12q24.13 NA Name=YY1_(C-20),Pol2,Pol2-4H8 NA NA rs2384075 0.29 0.29 0.291 0.29992 0.2714 0.0843 0.366 0.5098 0.2209 0.28 0.11 0.32 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610724 NA NA NA NA NA 0.319 NA 5.0619333 1146 4 40438576 40438576 A G exonic RBM47 NA synonymous SNV RBM47:NM_001098634:exon5:c.T1212C:p.G404G exonic ENSG00000163694 NA synonymous SNV ENSG00000163694:ENST00000381793:exon4:c.T1212C:p.G404G,ENSG00000163694:ENST00000514014:exon4:c.T1098C:p.G366G,ENSG00000163694:ENST00000295971:exon5:c.T1212C:p.G404G Score=682;Name=lod=788 NA 4p14 Score=931;Name=V$TATA_01 NA NA NA rs2307046 0.82 0.82 0.814 0.805112 0.8698 0.7669 0.8516 0.7088 0.8753 0.87 0.8 0.84 0.75 0.8534 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.293525 1.293525 NA 0.881794 0.7384 NA 0.841 NA 5.0616726 1146 2 239140728 239140728 A G ncRNA_exonic LOC643387 NA NA NA ncRNA_exonic ENSG00000225057 NA NA NA Score=672;Name=lod=719 NA 2q37.3 NA NA NA NA rs11689033 0.21 0.21 0.168 0.167931 0.335 0.121 0.2478 0.0212 0.1861 0.34 0.12 0.3 0.02 0.2708 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292124 NA NA NA NA NA 0.21 NA 5.0608666 1146 19 38817486 38817486 T C exonic KCNK6 NA synonymous SNV KCNK6:NM_004823:exon2:c.T576C:p.F192F exonic ENSG00000099337 NA synonymous SNV ENSG00000099337:ENST00000263372:exon2:c.T576C:p.F192F NA NA 19q13.2 NA NA NA NA rs3745951 0.18 0.18 0.126 0.178914 0.2217 0.1518 0.2507 0.0673 0.2628 0.23 0.15 0.25 0.09 0.1979 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.059807 NA NA 0.186395 0.088289 NA 0.159 NA 5.0606716 1146 19 41601896 41601896 C G UTR3 CYP2A13 NM_000766:c.*50C>G NA NA UTR3 ENSG00000197838 ENST00000330436:c.*50C>G NA NA NA NA 19q13.2 NA Name=E2F6 NA NA rs1709083 0.13 0.13 0.064 0.152756 0.0994 0.0198 0.2464 0.2595 0.1339 0.1 0.02 0.19 0.27 0.1107 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217061 NA NA 0.063622 0.194622 NA 0.051 NA 5.0596114 1146 8 95906554 95906554 C G intronic CCNE2 NA NA NA intronic ENSG00000175305 NA NA NA NA NA 8q22.1 NA Name=Sin3Ak-20 Name=27 NA rs2466431 0.95 0.95 0.95 0.952276 0.9404 0.9028 0.9827 0.9992 0.9305 0.94 0.89 0.99 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828897 NA NA NA NA NA 0.971 NA 5.0596 1146 13 25591842 25591842 G T intergenic TPTE2P1,PABPC3 dist=49235;dist=78434 NA NA downstream ENSG00000269099 NA NA NA Score=642;Name=lod=543 NA 13q12.13 NA Name=ZNF263 NA NA rs4328299 0.44 0.44 0.406 0.459864 0.4404 0.4077 0.4366 0.5219 0.4663 0.44 0.38 0.44 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066451 NA NA NA NA NA 0.572 NA 5.0596 1146 13 25591849 25591849 C T intergenic TPTE2P1,PABPC3 dist=49242;dist=78427 NA NA downstream ENSG00000269099 NA NA NA Score=642;Name=lod=543 NA 13q12.13 NA Name=ZNF263 NA NA rs4488308 0.46 0.46 0.429 0.47524 0.4404 0.4623 0.4625 0.5242 0.4673 0.44 0.45 0.46 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157486 NA NA NA NA NA 0.58 NA 5.0596 1146 11 56510694 56510694 T C exonic OR9G4 NA synonymous SNV OR9G4:NM_001005284:exon1:c.A594G:p.P198P exonic ENSG00000172457 NA synonymous SNV ENSG00000172457:ENST00000302957:exon1:c.A594G:p.P198P NA NA 11q12.1 NA NA NA NA rs1397053 0.14 0.14 0.149 0.130192 0.2147 0.0119 0.1268 0.2035 0.0685 0.22 0.01 0.11 0.21 0.1721 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496645 NA NA 0.220321 0.214902 NA 0.116 NA 5.0595456 1146 9 135374898 135374898 T C exonic C9orf171 NA synonymous SNV C9orf171:NM_207417:exon4:c.T543C:p.N181N exonic ENSG00000188523 NA synonymous SNV ENSG00000188523:ENST00000393215:exon3:c.T435C:p.N145N,ENSG00000188523:ENST00000393216:exon3:c.T435C:p.N145N,ENSG00000188523:ENST00000343036:exon4:c.T543C:p.N181N NA NA 9q34.13 Score=912;Name=V$TCF11_01 NA NA NA rs562350 0.67 0.67 0.654 0.678315 0.4831 0.8254 0.572 0.8533 0.5665 0.5 0.82 0.57 0.81 0.5875 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495281 NA NA 0.536628 0.796414 ID=COSM1132566;OCCURENCE=1(liver),1(prostate) 0.667 NA 5.0594386 1146 4 123664919 123664919 A G exonic BBS12 NA synonymous SNV BBS12:NM_152618:exon2:c.A1872G:p.Q624Q,BBS12:NM_001178007:exon3:c.A1872G:p.Q624Q exonic ENSG00000181004 NA synonymous SNV ENSG00000181004:ENST00000314218:exon2:c.A1872G:p.Q624Q,ENSG00000181004:ENST00000542236:exon3:c.A1872G:p.Q624Q NA NA 4q27 NA NA NA NA rs13102440 0.11 0.11 0.105 0.091853 0.2127 NA 0.1052 0.0484 0.1115 0.22 NA 0.12 0.06 0.1693 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530585 NA NA 0.225581 0.065592 NA 0.116 NA 5.0590856 1146 2 71061108 71061108 G A exonic CD207 NA synonymous SNV CD207:NM_015717:exon3:c.C234T:p.V78V exonic ENSG00000116031 NA synonymous SNV ENSG00000116031:ENST00000410009:exon3:c.C234T:p.V78V NA NA 2p13.3 NA NA NA NA rs17662453 0.14 0.14 0.133 0.142173 0.1839 0.0972 0.219 0.1059 0.1401 0.18 0.08 0.18 0.12 0.2088 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06288 NA NA 0.215542 0.120112 NA 0.087 NA 5.0584246 1146 3 133670073 133670073 T C exonic SLCO2A1 NA synonymous SNV SLCO2A1:NM_005630:exon6:c.A840G:p.R280R exonic ENSG00000174640 NA synonymous SNV ENSG00000174640:ENST00000493729:exon5:c.A612G:p.R204R,ENSG00000174640:ENST00000310926:exon6:c.A840G:p.R280R,ENSG00000174640:ENST00000481359:exon6:c.A840G:p.R280R NA NA 3q22.1 NA NA NA NA rs6767412 0.25 0.25 0.249 0.254393 0.1909 0.2827 0.2421 0.3215 0.2086 0.21 0.27 0.25 0.32 0.2283 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134304 NA NA 0.189186 0.316614 ID=COSM149475;OCCURENCE=1(stomach) 0.174 NA 5.0582806 1146 9 98231008 98231008 A G ncRNA_exonic LOC100507346 NA NA NA intronic ENSG00000185920 NA NA NA NA Name=Pulmonary function (interaction),Pulmonary function 9q22.32 NA NA NA NA rs16909898 0.1 0.1 0.102 0.0878594 0.0974 0.0843 0.0692 0.1309 0.0368 0.11 0.1 0.07 0.12 0.0881 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894759 NA NA 0.089651 0.138901 ID=COSM14468;OCCURENCE=1(skin) 0.058 NA 5.0581823 1146 16 20335325 20335325 G A exonic GP2 NA synonymous SNV GP2:NM_001007240:exon3:c.C348T:p.D116D,GP2:NM_001502:exon3:c.C348T:p.D116D exonic ENSG00000169347 NA synonymous SNV ENSG00000169347:ENST00000572347:exon2:c.C84T:p.D28D,ENSG00000169347:ENST00000302555:exon3:c.C348T:p.D116D,ENSG00000169347:ENST00000381362:exon3:c.C348T:p.D116D,ENSG00000169347:ENST00000572478:exon3:c.C153T:p.D51D,ENSG00000169347:ENST00000575449:exon3:c.C348T:p.D116D NA NA 16p12.3 NA NA NA NA rs12930599 0.1 0.1 0.101 0.0826677 0.2256 0.0089 0.1772 0.0068 0.047 0.21 0.0035 0.17 0.01 0.1637 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.254257 NA NA 0.219767 0.046527 NA 0.101 NA 5.0575996 1146 17 36375227 36375227 C T ncRNA_intronic LOC440434 NA NA NA intronic ENSG00000174093 NA NA NA NA NA 17q12 NA NA Name=19 NA rs2271169 NA NA 0.28 0.212061 0.1133 0.2867 0.2262 0.3109 0.093 NA NA NA NA 0.1629 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122829 NA NA NA NA NA 0.043 NA 5.0571333 1146 12 62861111 62861111 T C intronic MON2 NA NA NA intronic ENSG00000061987 NA NA NA NA NA 12q14.1 Score=976;Name=V$CREB_01 Name=Mxi1_(bHLH),AP-2gamma,ZEB1_(SC-25388),Sin3Ak-20,HA-E2F1,AP-2alpha Name=24 NA rs6581450 0.69 0.69 0.695 0.689497 0.6501 0.623 0.67 0.8048 0.6564 0.65 0.65 0.7 0.79 0.6505 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.634447 1.634447 NA 0.642558 0.785293 NA 0.667 NA 5.056842 1146 5 118556350 118556350 C T intronic DMXL1 NA NA NA intronic ENSG00000172869 NA NA NA NA NA 5q23.1 NA Name=PU.1 Name=5 NA rs2271059 0.89 0.89 0.883 0.887181 0.9433 0.8631 0.9524 0.8116 0.91 0.94 0.87 0.94 0.79 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73296 NA NA NA NA NA 0.928 NA 5.0567 1146 8 124693410 124693410 G C UTR3 ANXA13 NM_004306:c.*70C>G,NM_001003954:c.*70C>G NA NA UTR3 ENSG00000104537 ENST00000262219:c.*70C>G,ENST00000419625:c.*70C>G NA NA NA NA 8q24.13 NA NA Name=104 NA rs4471017 0.25 0.25 0.208 0.248203 0.2773 0.0833 0.3516 0.2852 0.2648 0.28 0.1 0.37 0.29 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093556 NA NA NA NA NA 0.37 NA 5.0560334 1146 12 56607927 56607927 C T intronic RNF41 NA NA NA intronic ENSG00000181852 NA NA NA NA NA 12q13.3 NA Name=GATA3_(SC-268) Name=9 NA rs4759218 0.8 0.8 0.785 0.774161 0.9443 0.9742 0.9006 0.2821 0.9683 0.94 0.97 0.9 0.33 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120822 NA NA NA NA NA 0.746 NA 5.0557 1146 16 18861335 18861335 A G exonic SMG1 NA synonymous SNV SMG1:NM_015092:exon35:c.T5397C:p.H1799H exonic ENSG00000157106 NA synonymous SNV ENSG00000157106:ENST00000565324:exon33:c.T5067C:p.H1689H,ENSG00000157106:ENST00000389467:exon35:c.T5397C:p.H1799H,ENSG00000157106:ENST00000446231:exon35:c.T5397C:p.H1799H Score=435;Name=lod=78 NA 16p12.3 NA NA NA NA rs2650613 0.48 0.48 0.453 0.514976 0.5258 0.2242 0.5591 0.7307 0.4806 0.52 0.19 0.57 0.68 0.5214 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547388 NA NA 0.563877 0.726069 NA 0.551 NA 5.0555896 1146 3 135774361 135774361 G A intronic PPP2R3A NA NA NA ncRNA_exonic ENSG00000227267 NA NA NA Score=661;Name=lod=645 NA 3q22.3 NA NA NA NA rs36039354 0.14 0.14 0.123 0.142572 0.2783 0.0258 0.1369 0.0575 0.2423 0.27 0.02 0.15 0.06 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154804 NA NA NA NA NA 0.174 NA 5.0550333 1147 2 233320885 233320885 G A UTR5 ALPI NM_001631:c.-25G>A NA NA UTR5 ENSG00000163295 ENST00000295463:c.-25G>A,ENST00000457560:c.-25G>A NA NA NA NA 2q37.1 NA NA Name=5 NA rs3762519 0.09 0.09 0.077 0.0890575 0.1064 0.0804 0.0764 0.0968 0.0787 0.1 0.08 0.08 0.09 0.0907 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170262 NA NA 0.082209 0.095778 NA 0.08 NA 5.0540244 1147 7 142749953 142749953 C T exonic OR6V1 NA synonymous SNV OR6V1:NM_001001667:exon1:c.C516T:p.I172I exonic ENSG00000225781 NA synonymous SNV ENSG00000225781:ENST00000418316:exon1:c.C516T:p.I172I NA NA 7q34 NA NA NA NA rs11975892 0.27 0.27 0.307 0.292532 0.2018 0.0357 0.1974 0.6914 0.1789 0.2 0.04 0.21 0.69 0.2112 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510957 NA NA 0.199789 0.594575 NA 0.275 NA 5.0538776 1147 1 7889941 7889941 C T exonic PER3 NA synonymous SNV PER3:NM_016831:exon18:c.C2907T:p.T969T exonic ENSG00000049246 NA synonymous SNV ENSG00000049246:ENST00000361923:exon18:c.C2907T:p.T969T,ENSG00000049246:ENST00000377532:exon18:c.C2934T:p.T978T NA NA 1p36.23 NA NA NA NA rs2640908 0.29 0.29 0.294 0.304313 0.1978 0.4851 0.1599 0.3154 0.3149 0.19 0.48 0.18 0.3 0.2269 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301556 NA NA 0.18814 0.302542 NA 0.297 NA 5.0538266 1147 15 52901284 52901284 T C exonic FAM214A NA synonymous SNV FAM214A:NM_019600:exon6:c.A1827G:p.S609S exonic ENSG00000047346 NA synonymous SNV ENSG00000047346:ENST00000399202:exon5:c.A1563G:p.S521S,ENSG00000047346:ENST00000546305:exon5:c.A1848G:p.S616S,ENSG00000047346:ENST00000261844:exon6:c.A1827G:p.S609S,ENSG00000047346:ENST00000534964:exon6:c.A1827G:p.S609S NA NA 15q21.3 NA NA NA NA rs58018557 0.4 0.4 0.458 0.49361 0.17 0.8869 0.317 0.6233 0.3712 0.13 0.78 0.25 0.51 0.2873 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.943353 NA NA 0.155836 0.516894 NA 0.072 NA 5.0535306 1147 19 57999182 57999182 A G UTR5 ZNF419 NM_001098494:c.-137A>G,NM_001098496:c.-137A>G,NM_001098495:c.-137A>G,NM_001098493:c.-137A>G,NM_001098492:c.-137A>G,NM_001098491:c.-137A>G,NM_024691:c.-137A>G NA NA UTR5 ENSG00000105136,ENSG00000268107 ENST00000354197:c.-137A>G,ENST00000426954:c.-137A>G,ENST00000442920:c.-137A>G,ENST00000519310:c.-3750A>G,ENST00000520540:c.-137A>G,ENST00000523882:c.-137A>G,ENST00000523312:c.-137A>G,ENST00000424930:c.-137A>G,ENST00000347466:c.-137A>G,ENST00000415379:c.-137A>G,ENST00000523138:c.-137A>G,ENST00000521754:c.-137A>G,ENST00000221735:c.-137A>G,ENST00000518999:c.-137A>G,ENST00000521137:c.-137A>G;ENST00000601674:c.-137A>G,ENST00000599674:c.-137A>G NA NA NA NA 19q13.43 NA Name=GABP,TAF1,Pol2,STAT1,CHD2_(N-1250),Sin3Ak-20,c-Fos,Pol2-4H8,c-Myc,ZEB1_(SC-25388),HEY1,IRF3,TBP,IRF1 NA NA rs8113039 0.41 0.41 0.339 0.415735 0.2803 0.5823 0.4928 0.3056 0.4775 0.3 0.64 0.42 0.3 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847919 NA NA NA NA NA 0.312 NA 5.0530334 1147 14 59112475 59112475 C T exonic DACT1 NA synonymous SNV DACT1:NM_001079520:exon4:c.C1023T:p.V341V,DACT1:NM_016651:exon4:c.C1134T:p.V378V exonic ENSG00000165617 NA synonymous SNV ENSG00000165617:ENST00000335867:exon4:c.C1134T:p.V378V,ENSG00000165617:ENST00000395151:exon4:c.C291T:p.V97V,ENSG00000165617:ENST00000395153:exon4:c.C1023T:p.V341V,ENSG00000165617:ENST00000421793:exon4:c.C291T:p.V97V,ENSG00000165617:ENST00000541264:exon4:c.C291T:p.V97V,ENSG00000165617:ENST00000556859:exon4:c.C291T:p.V97V NA NA 14q23.1 NA NA NA NA rs863091 0.25 0.25 0.259 0.270966 0.1938 0.1498 0.3343 0.4342 0.2096 0.19 0.14 0.31 0.43 0.2272 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311394 NA NA 0.192907 0.36768 NA 0.254 NA 5.0527596 1147 14 24526206 24526206 T C exonic LRRC16B NA synonymous SNV LRRC16B:NM_138360:exon13:c.T1035C:p.P345P exonic ENSG00000186648 NA synonymous SNV ENSG00000186648:ENST00000342740:exon13:c.T1035C:p.P345P NA NA 14q11.2 NA NA NA NA rs45484702 0.21 0.21 0.194 0.215056 0.1859 0.38 0.1614 0.0673 0.3129 0.19 0.4 0.15 0.07 0.2178 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834747 NA NA 0.210581 0.092828 NA 0.283 NA 5.0523856 1147 16 3656482 3656482 C T exonic SLX4 NA synonymous SNV SLX4:NM_032444:exon3:c.G753A:p.A251A exonic ENSG00000188827 NA synonymous SNV ENSG00000188827:ENST00000294008:exon3:c.G753A:p.A251A NA NA 16p13.3 NA NA NA NA rs8061528 0.25 0.25 0.252 0.230831 0.1978 0.2808 0.1902 0.2466 0.2209 0.22 0.31 0.2 0.27 0.2138 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153458 NA NA 0.203023 0.250114 NA 0.21 NA 5.0520436 1147 5 161119125 161119125 C G exonic GABRA6 NA synonymous SNV GABRA6:NM_000811:exon8:c.C1005G:p.A335A exonic ENSG00000145863 NA synonymous SNV ENSG00000145863:ENST00000274545:exon8:c.C1005G:p.A335A,ENSG00000145863:ENST00000523217:exon8:c.C975G:p.A325A Score=658;Name=lod=628 NA 5q34 NA NA NA NA rs13184586 0.43 0.43 0.442 0.401158 0.5736 0.3185 0.3732 0.3351 0.4182 0.57 0.34 0.37 0.37 0.4854 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273742 NA NA 0.556279 0.35497 NA 0.384 NA 5.0513876 1147 1 227452700 227452700 C T intronic CDC42BPA NA NA NA ncRNA_exonic ENSG00000236636 NA NA NA Score=653;Name=lod=602 NA 1q42.13 NA NA NA NA rs1969230 0.35 0.35 0.329 0.32528 0.2823 0.3423 0.3602 0.3752 0.2597 0.29 0.38 0.36 0.38 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.233955 NA NA NA NA NA 0.312 NA 5.0510333 1147 1 227452751 227452751 C T intronic CDC42BPA NA NA NA ncRNA_exonic ENSG00000236636 NA NA NA Score=653;Name=lod=602 NA 1q42.13 NA NA NA NA rs1533283 0.35 0.35 0.333 0.32528 0.2823 0.3423 0.3602 0.3752 0.2597 0.29 0.38 0.36 0.38 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112752 NA NA NA NA NA 0.319 NA 5.0510333 1147 8 118185025 118185025 G A UTR3 SLC30A8 NM_001172811:c.*105G>A,NM_001172815:c.*105G>A,NM_001172813:c.*105G>A,NM_001172814:c.*105G>A,NM_173851:c.*105G>A NA NA UTR3 ENSG00000164756 ENST00000521243:c.*105G>A,ENST00000427715:c.*105G>A,ENST00000456015:c.*105G>A NA NA NA Name=Type 2 diabetes 8q24.11 NA NA NA NA rs3802177 0.28 0.28 0.258 0.25619 0.2833 0.4613 0.2666 0.0756 0.2536 0.29 0.46 0.26 0.08 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496228 NA NA NA NA NA 0.174 NA 5.0500334 1147 19 21608319 21608319 A C UTR3 ZNF493 NM_001076678:c.*533A>C,NM_175910:c.*533A>C NA NA UTR3 ENSG00000196268 ENST00000392288:c.*533A>C,ENST00000355504:c.*533A>C NA NA Score=405;Name=lod=59 NA 19p12 NA NA NA NA rs56080558 0.28 0.28 0.174 0.290335 0.2833 0.3413 0.3429 0.2421 0.273 0.3 0.3 0.29 0.21 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966956 NA NA NA NA NA 0.304 NA 5.0500334 1147 2 170517594 170517594 C T intronic CCDC173 NA NA NA ncRNA_exonic ENSG00000226072 NA NA NA Score=619;Name=lod=438 NA 2q31.1 NA NA NA NA rs7575494 0.22 0.22 0.232 0.230831 0.2843 0.1577 0.1542 0.2678 0.2556 0.27 0.15 0.17 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.269408 NA NA NA NA NA 0.326 NA 5.0490333 1147 2 112141772 112141772 C T ncRNA_intronic LOC541471 NA NA NA ncRNA_exonic ENSG00000223973 NA NA NA Score=843;Name=lod=3545 NA 2q13 NA NA NA NA rs1040256 NA NA NA 0.636981 0.6183 0.4038 0.6729 0.8321 0.6074 NA NA NA NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120701 NA NA NA NA NA 0.688 NA 5.0483666 1147 2 233594875 233594875 G A intronic GIGYF2 NA NA NA ncRNA_exonic ENSG00000213055 NA NA NA Score=549;Name=lod=227 NA 2q37.1 NA NA NA NA rs13008942 0.29 0.29 0.266 0.359225 0.2853 0.3532 0.3055 0.2398 0.6411 0.28 0.32 0.29 0.25 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146287 NA NA NA NA NA 0.312 NA 5.0480333 1147 21 47575372 47575372 C T intronic FTCD NA NA NA intronic ENSG00000160282 NA NA NA NA NA 21q22.3 NA Name=Pol2,HEY1,Sin3Ak-20 NA NA rs2277820 0.41 0.41 0.359 0.403355 0.3111 0.7728 0.513 0.0787 0.4785 0.32 0.8 0.43 0.1 0.366 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205279 NA NA 0.275064 0.107955 NA 0.341 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081451.1;CLNDSDB=.;CLNDSDBID=. 5.047836 1147 2 17962450 17962450 A G exonic GEN1 NA synonymous SNV GEN1:NM_001130009:exon14:c.A1971G:p.E657E,GEN1:NM_182625:exon14:c.A1971G:p.E657E exonic ENSG00000178295 NA synonymous SNV ENSG00000178295:ENST00000317402:exon14:c.A1971G:p.E657E,ENSG00000178295:ENST00000381254:exon14:c.A1971G:p.E657E Score=259;Name=lod=15 NA 2p24.2 NA NA NA NA rs300168 0.56 0.56 0.522 0.573882 0.5249 0.9226 0.6354 0.1536 0.7894 0.53 0.91 0.6 0.19 0.5758 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939044 NA NA 0.518372 0.246028 NA 0.514 NA 5.0475946 1147 12 18891079 18891079 T C UTR5 CAPZA3 NM_033328:c.-124T>C NA NA UTR5 ENSG00000177938 ENST00000317658:c.-124T>C NA NA Score=300;Name=lod=22 NA 12p12.3 NA NA NA NA rs1075421 0.38 0.38 0.368 0.398363 0.2863 0.3413 0.3703 0.5908 0.3323 0.29 0.33 0.36 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08169 NA NA NA NA NA 0.377 NA 5.0470334 1147 16 69375658 69375658 G A UTR3 NIP7 NM_016101:c.*103G>A,NM_001199434:c.*103G>A NA NA UTR3 ENSG00000132603 ENST00000254940:c.*103G>A,ENST00000254941:c.*103G>A,ENST00000567202:c.*108G>A,ENST00000562523:c.*230G>A NA NA Score=295;Name=lod=21 NA 16q22.1 NA NA NA NA rs8053850 0.27 0.27 0.291 0.307109 0.2863 0.0833 0.2291 0.5023 0.3507 0.27 0.09 0.26 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.049898 2.049898 NA NA NA NA 0.391 NA 5.0470334 1147 1 40428587 40428587 G T intronic MFSD2A NA NA NA ncRNA_exonic ENSG00000228477 NA NA NA Score=796;Name=lod=2290 NA 1p34.2 NA NA NA NA rs3131699 0.32 0.32 0.226 0.343251 0.2863 0.5317 0.3963 0.112 0.4826 0.28 0.53 0.34 0.11 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555347 NA NA NA NA NA 0.304 NA 5.0470333 1147 4 39975517 39975517 G A intronic PDS5A NA NA NA ncRNA_intronic ENSG00000231707 NA NA NA Score=752;Name=lod=1522 NA 4p14 NA NA NA NA rs12512058 0.17 0.17 0.1 0.149161 0.2863 0.0417 0.3098 0.0182 0.182 0.28 0.04 0.35 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029515 NA NA NA NA NA 0.232 NA 5.0470333 1147 5 77339846 77339846 G A intronic AP3B1 NA NA NA ncRNA_exonic ENSG00000253558 NA NA NA Score=676;Name=lod=746 NA 5q14.1 NA NA NA NA rs11746090 0.14 0.14 0.14 0.148562 0.2863 0.0258 0.1614 0.0151 0.3047 0.3 0.04 0.16 0.01 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010026 NA NA NA NA NA 0.145 NA 5.0470333 1147 22 31298208 31298208 A C intronic OSBP2 NA NA NA ncRNA_exonic ENSG00000237977 NA NA NA Score=628;Name=lod=474 NA 22q12.2 NA NA NA NA rs12167144 0.41 0.41 0.384 0.407348 0.2863 0.5754 0.3357 0.528 0.2464 0.27 0.52 0.37 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481763 NA NA NA NA NA 0.333 NA 5.0470333 1147 11 69063136 69063136 C T exonic MYEOV NA synonymous SNV MYEOV:NM_138768:exon3:c.C219T:p.A73A exonic ENSG00000172927 NA synonymous SNV ENSG00000172927:ENST00000535407:exon2:c.C45T:p.A15A,ENSG00000172927:ENST00000308946:exon3:c.C219T:p.A73A,ENSG00000172927:ENST00000441339:exon3:c.C219T:p.A73A NA NA 11q13.3 NA NA NA NA rs7117236 0.4 0.4 0.414 0.449281 0.169 0.4375 0.1902 0.854 0.3865 0.16 0.47 0.2 0.82 0.2755 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369973 NA NA 0.175477 0.720227 NA 0.514 NA 5.0466896 1147 4 8021417 8021417 A G intronic ABLIM2 NA NA NA intronic ENSG00000163995 NA NA NA NA NA 4p16.1 NA Name=GATA-2 Name=6 NA rs34477140 0.2 0.2 0.179 0.171725 0.3529 0.0903 0.2133 0.0643 0.1851 0.36 0.06 0.22 0.08 0.2564 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.214535 2.214535 NA 0.344221 0.097577 NA 0.188 NA 5.046479 1147 11 56468493 56468493 A G exonic OR9G1,OR9G9 NA synonymous SNV OR9G1:NM_001005213:exon1:c.A630G:p.A210A,OR9G9:NM_001013358:exon1:c.A630G:p.A210A exonic ENSG00000174914 NA synonymous SNV ENSG00000174914:ENST00000312153:exon1:c.A630G:p.A210A NA NA 11q12.1 NA NA NA NA rs10792053 0.51 0.51 0.465 0.158147 0.1163 0.122 0.121 0.2693 0.1145 0.5 0.49 0.51 0.56 0.504 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.413753 NA NA NA NA NA 0.384 NA 5.0463666 1147 1 91794744 91794744 C T intronic HFM1 NA NA NA ncRNA_exonic ENSG00000215873 NA NA NA Score=715;Name=lod=1070 NA 1p22.2 NA NA NA NA rs1974253 0.21 0.21 0.188 0.213259 0.2873 0.2669 0.1772 0.0227 0.365 0.28 0.29 0.18 0.03 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.50323 1.50323 NA NA NA NA 0.232 NA 5.0460333 1147 10 64982172 64982172 G T intronic JMJD1C NA NA NA ncRNA_exonic ENSG00000234369 NA NA NA Score=575;Name=lod=289 NA 10q21.3 NA NA NA NA rs34899893 0.14 0.14 0.131 0.117013 0.2883 0.0149 0.1513 0.025 0.1462 0.31 0.01 0.15 0.03 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.176007 NA NA NA NA NA 0.167 NA 5.0450333 1148 3 130743812 130743812 G A exonic ASTE1 NA synonymous SNV ASTE1:NM_014065:exon3:c.C339T:p.Y113Y exonic ENSG00000034533 NA synonymous SNV ENSG00000034533:ENST00000264992:exon3:c.C339T:p.Y113Y,ENSG00000034533:ENST00000507978:exon3:c.C339T:p.Y113Y,ENSG00000034533:ENST00000514044:exon3:c.C339T:p.Y113Y NA NA 3q22.1 NA NA NA NA rs35558913 0.16 0.16 0.17 0.166534 0.2197 0.131 0.1369 0.1157 0.2382 0.21 0.13 0.13 0.14 0.1865 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.827617 NA NA 0.215581 0.142306 NA 0.21 NA 5.0448856 1148 12 13154911 13154911 A G ncRNA_exonic HTR7P1 NA NA NA ncRNA_exonic ENSG00000183935 NA NA NA Score=756;Name=lod=1582 NA 12p13.1 NA NA NA NA rs1291362 0.58 0.58 0.555 0.583666 0.6223 0.5367 0.5187 0.5756 0.6493 0.63 0.55 0.52 0.58 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.836935 NA 0.09 NA NA NA 0.543 NA 5.0443666 1148 1 170959029 170959029 C T exonic MROH9 NA synonymous SNV MROH9:NM_001163629:exon11:c.C913T:p.L305L,MROH9:NM_025063:exon11:c.C913T:p.L305L exonic ENSG00000117501 NA synonymous SNV ENSG00000117501:ENST00000367758:exon11:c.C913T:p.L305L,ENSG00000117501:ENST00000367759:exon11:c.C913T:p.L305L NA NA 1q24.3 NA NA NA NA rs16863922 0.21 0.21 0.215 0.20607 0.2227 0.001 0.1873 0.4047 0.1452 0.22 NA 0.21 0.42 0.1925 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051174 NA NA 0.20716 0.359556 NA 0.29 NA 5.0443066 1148 1 32096265 32096265 A G exonic PEF1 NA synonymous SNV PEF1:NM_012392:exon5:c.T804C:p.I268I exonic ENSG00000162517 NA synonymous SNV ENSG00000162517:ENST00000373703:exon5:c.T804C:p.I268I Score=579;Name=lod=301 NA 1p35.2 NA NA NA NA rs1061770 0.36 0.36 0.314 0.356829 0.5676 0.248 0.4741 0.0794 0.544 0.55 0.26 0.49 0.08 0.4955 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379875 1.379875 NA 0.559419 0.165683 NA 0.413 NA 5.0441476 1148 5 7743787 7743787 C T exonic ADCY2 NA synonymous SNV ADCY2:NM_020546:exon15:c.C1878T:p.S626S exonic ENSG00000078295 NA synonymous SNV ENSG00000078295:ENST00000537121:exon12:c.C1338T:p.S446S,ENSG00000078295:ENST00000338316:exon15:c.C1878T:p.S626S NA NA 5p15.31 Score=889;Name=V$HSF1_01 NA NA NA rs62342477 0.33 0.33 0.323 0.323682 0.5755 0.0585 0.3199 0.2973 0.3763 0.55 0.05 0.37 0.31 0.469 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.227675 NA NA 0.579419 0.340672 NA 0.406 NA 5.0427476 1148 10 124457452 124457452 C T exonic C10orf120 NA nonsynonymous SNV C10orf120:NM_001010912:exon3:c.G805A:p.A269T exonic ENSG00000183559 NA nonsynonymous SNV ENSG00000183559:ENST00000329446:exon3:c.G805A:p.A269T NA NA 10q26.13 NA NA NA NA rs2947594 0.79 0.79 0.803 0.807708 0.7535 0.8095 0.7291 0.8359 0.8793 0.75 0.78 0.78 0.87 0.7823 0.87 0.86 T 0.0 B 0.0 B 0.848 N 1.000 P -0.92 N 1.53 T -1.013 T 0.000 T 0.019 -0.585 1.374 -1.81 -0.795 -0.758 6.548 -0.585199 NA 1 0.754884 0.847027 NA 0.761 NA 5.0426494 1148 19 8326904 8326904 G A exonic CERS4 NA nonsynonymous SNV CERS4:NM_024552:exon12:c.G1096A:p.A366T exonic ENSG00000090661 NA nonsynonymous SNV ENSG00000090661:ENST00000559336:exon10:c.G832A:p.A278T,ENSG00000090661:ENST00000559450:exon11:c.G1096A:p.A366T,ENSG00000090661:ENST00000251363:exon12:c.G1096A:p.A366T,ENSG00000090661:ENST00000558331:exon12:c.G943A:p.A315T NA NA 19p13.2 NA NA NA NA rs36259 0.76 0.76 0.756 0.752995 0.7763 0.7986 0.7752 0.671 0.7771 0.76 0.84 0.76 0.64 0.7499 0.84 0.66 T 0.012 B 0.01 B 0.000 N 1.000 P 1.405 L 3.4 T -0.986 T 0.000 T 0.054 0.75 7.977 0.913 0.357 0.869 2.328 0.750364 NA 0.69 0.76472 0.690054 NA 0.819 NA 5.0424134 1148 12 6554429 6554429 G C ncRNA_intronic CD27-AS1 NA NA NA ncRNA_intronic ENSG00000215039 NA NA NA NA NA 12p13.31 NA NA Name=2 NA rs2534719 0.12 0.12 0.106 0.157149 0.1988 0.0546 0.1167 0.1127 0.3088 0.18 0.02 0.15 0.1 0.1958 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506394 NA NA 0.229767 0.134589 NA 0.174 NA 5.0422996 1148 16 48532560 48532560 A G intergenic MIR548AE2,N4BP1 dist=112001;dist=40077 NA NA downstream ENSG00000260347 NA NA NA Score=588;Name=lod=327 NA 16q12.1 NA NA Name=3 NA rs4785521 0.6 0.6 0.591 0.616014 0.4583 0.8383 0.6023 0.5877 0.5971 0.46 0.87 0.53 0.56 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27284 NA NA NA NA NA 0.442 NA 5.0417 1148 11 105782654 105782654 C T UTR3 GRIA4 NM_001077244:c.*20C>T,NM_001112812:c.*20C>T NA NA UTR3 ENSG00000152578 ENST00000393125:c.*20C>T,ENST00000428631:c.*20C>T NA NA Score=726;Name=lod=1189 NA 11q22.3 NA NA NA NA rs72978094 0.11 0.11 0.07 0.0994409 0.1074 0.1438 0.2363 0.0159 0.0613 0.11 0.11 0.22 0.02 0.0981 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.883536 1.883536 NA 0.08638 0.030579 NA 0.065 NA 5.0414534 1148 1 229790048 229790048 A G exonic URB2 NA synonymous SNV URB2:NM_014777:exon9:c.A4290G:p.R1430R exonic ENSG00000135763 NA synonymous SNV ENSG00000135763:ENST00000434387:exon2:c.A138G:p.R46R,ENSG00000135763:ENST00000258243:exon9:c.A4290G:p.R1430R Score=492;Name=lod=133 NA 1q42.13 NA NA NA NA rs7521953 0.63 0.63 0.613 0.604034 0.5457 0.8502 0.5778 0.503 0.5654 0.53 0.88 0.6 0.52 0.5635 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076132 NA NA 0.516163 0.524739 NA 0.522 NA 5.0413036 1148 16 10205430 10205430 A G intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=571;Name=lod=278 NA 16p13.2 NA NA NA NA rs7190342 0.33 0.33 0.343 0.354233 0.2922 0.4712 0.268 0.3336 0.3865 0.28 0.47 0.25 0.32 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011633 NA NA NA NA NA 0.232 NA 5.0411333 1148 6 31379794 31379794 C T exonic MICA NA synonymous SNV MICA:NM_000247:exon4:c.C684T:p.S228S,MICA:NM_001177519:exon4:c.C684T:p.S228S exonic ENSG00000204520 NA synonymous SNV ENSG00000204520:ENST00000421350:exon3:c.C357T:p.S119S,ENSG00000204520:ENST00000449934:exon4:c.C684T:p.S228S NA NA 6p21.33 NA NA NA NA rs1051797 0.31 0.31 0.189 0.364018 0.3141 0.2996 0.4063 0.4773 0.2986 0.26 0.23 0.41 0.39 0.3116 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000558 NA NA NA NA NA NA NA 5.0409666 1148 14 100792126 100792126 C T exonic SLC25A47 NA synonymous SNV SLC25A47:NM_207117:exon2:c.C30T:p.G10G exonic ENSG00000140107 NA synonymous SNV ENSG00000140107:ENST00000361529:exon2:c.C30T:p.G10G NA NA 14q32.2 NA NA NA NA rs35097172 0.14 0.14 0.129 0.132388 0.2087 0.1181 0.1153 0.0734 0.1605 0.21 0.12 0.12 0.07 0.1879 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150338 NA NA 0.229302 0.101906 NA 0.196 NA 5.0407646 1148 1 170959088 170959088 C T exonic MROH9 NA synonymous SNV MROH9:NM_001163629:exon11:c.C972T:p.C324C,MROH9:NM_025063:exon11:c.C972T:p.C324C exonic ENSG00000117501 NA synonymous SNV ENSG00000117501:ENST00000367758:exon11:c.C972T:p.C324C,ENSG00000117501:ENST00000367759:exon11:c.C972T:p.C324C NA NA 1q24.3 NA NA NA NA rs28634500 0.22 0.22 0.232 0.221446 0.2227 0.001 0.1902 0.4614 0.1452 0.22 NA 0.21 0.48 0.1968 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304322 NA NA 0.206614 0.401133 NA 0.319 NA 5.0405526 1148 10 98127809 98127809 A C UTR3 TLL2 NM_012465:c.*36T>G NA NA UTR3 ENSG00000095587 ENST00000357947:c.*36T>G NA NA Score=272;Name=lod=17 NA 10q24.1 NA NA NA NA rs41291624 0.07 0.07 0.072 0.0623003 0.1044 0.0099 0.0476 0.0893 0.047 0.11 0.02 0.06 0.08 0.0848 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154127 NA NA 0.103837 0.09941 NA 0.058 NA 5.0402964 1148 15 22482858 22482858 A G intergenic OR4N3P,REREP3 dist=68463;dist=63707 NA NA ncRNA_exonic ENSG00000270356 NA NA NA Score=446;Name=lod=87 NA 15q11.2 NA NA Name=2 NA rs1807224 NA NA 0.404 NA NA NA NA NA NA NA NA NA NA 0.4693 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432455 NA NA 0.490526 0.473622 NA 0.428 NA 5.040174 1148 17 6560595 6560595 C T upstream ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=1767;dist=27437 NA NA NA NA 17p13.1 NA Name=CTCF,ELF1_(SC-631),Pol2,TAF1,GABP Name=21 NA rs12103597 0.48 0.48 0.517 0.601038 0.4602 0.7054 0.5605 0.6626 0.5838 0.37 0.59 0.48 0.52 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239498 NA NA NA NA NA NA NA 5.0398 1148 17 6560596 6560596 A T upstream ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=1768;dist=27436 NA NA NA NA 17p13.1 NA Name=CTCF,ELF1_(SC-631),Pol2,TAF1,GABP Name=21 NA rs12103854 0.48 0.48 0.513 0.601038 0.4602 0.7054 0.5605 0.6626 0.5838 0.37 0.59 0.48 0.54 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768119 NA NA NA NA NA NA NA 5.0398 1148 17 6560693 6560693 G A upstream ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=1865;dist=27339 NA NA NA NA 17p13.1 NA Name=CTCF,ELF1_(SC-631),Pol2,GABP,TAF1 Name=21 NA rs2309598 0.53 0.53 0.339 0.601438 0.4602 0.7073 0.5605 0.6626 0.5838 0.4 0.63 0.52 0.61 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117348 NA NA NA NA NA NA NA 5.0398 1148 6 7331682 7331682 G C intronic CAGE1 NA NA NA ncRNA_exonic ENSG00000219375 NA NA NA Score=724;Name=lod=1164 NA 6p24.3 NA NA NA NA rs2714313 0.33 0.33 0.352 0.348243 0.2942 0.2331 0.2622 0.5628 0.2935 0.31 0.23 0.26 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.865178 1.865178 NA NA NA NA 0.304 NA 5.0391333 1148 1 152328411 152328411 A G exonic FLG2 NA synonymous SNV FLG2:NM_001014342:exon3:c.T1851C:p.S617S exonic ENSG00000143520 NA synonymous SNV ENSG00000143520:ENST00000388718:exon3:c.T1851C:p.S617S NA NA 1q21.3 NA NA NA NA rs6679449 0.36 0.36 0.377 0.483227 0.169 0.5079 0.4553 0.7988 0.3742 0.13 0.44 0.33 0.61 0.2941 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114006 NA NA 0.16465 0.659101 ID=COSM1127384;OCCURENCE=1(prostate) 0.435 NA 5.0389166 1148 14 107130971 107130971 C T intergenic LINC00221,NONE dist=179442;dist=NONE NA NA downstream ENSG00000211972 NA NA NA NA NA 14q32.33 NA Name=YY1_(C-20),Znf143_(16618-1-AP),CTCF,Rad21,YY1,TCF12 Name=9 NA rs1964192 0.47 0.47 0.502 0.513778 0.4612 0.4444 0.4856 0.562 0.5941 0.41 0.4 0.49 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732901 NA NA NA NA NA 0.362 NA 5.0388 1148 15 89421405 89421405 G A exonic HAPLN3 NA synonymous SNV HAPLN3:NM_178232:exon5:c.C879T:p.I293I exonic ENSG00000140511 NA synonymous SNV ENSG00000140511:ENST00000359595:exon5:c.C879T:p.I293I,ENSG00000140511:ENST00000562889:exon6:c.C1065T:p.I355I NA NA 15q26.1 NA NA NA NA rs7182726 0.17 0.17 0.172 0.174521 0.2167 0.1101 0.1974 0.1778 0.1769 0.2 0.09 0.22 0.18 0.1912 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62346 NA NA 0.220516 0.200909 ID=COSM1129067;OCCURENCE=1(prostate) 0.261 NA 5.0382506 1148 9 19376258 19376258 G C UTR3 RPS6 NM_001010:c.*33C>G NA NA UTR3 ENSG00000137154 ENST00000380394:c.*33C>G NA NA NA NA 9p22.1 NA Name=CTCF_(SC-5916) NA NA rs67906804 0.14 0.14 0.138 0.16234 0.0944 0.0179 0.1153 0.3366 0.1789 0.08 0.02 0.1 0.38 0.1161 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302927 NA NA 0.084671 0.263504 NA 0.217 NA 5.0381624 1148 7 134814411 134814411 T C intronic AGBL3 NA NA NA ncRNA_exonic ENSG00000223500 NA NA NA Score=346;Name=lod=34 NA 7q33 NA NA NA NA rs4728353 0.33 0.33 0.285 0.272963 0.2952 0.5813 0.3617 0.053 0.1667 0.29 0.58 0.37 0.06 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.309041 1.309041 NA NA NA NA 0.21 NA 5.0381333 1148 3 195965509 195965509 T C UTR3 PCYT1A NM_005017:c.*50A>G NA NA UTR3 ENSG00000161217 ENST00000292823:c.*50A>G,ENST00000431016:c.*50A>G NA NA Score=478;Name=lod=117 NA 3q29 NA NA NA NA rs3184886 0.06 0.06 0.063 0.0579073 0.1074 NA 0.0663 0.0794 0.0317 0.1 NA 0.06 0.07 0.0827 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.855224 2.855224 NA 0.106047 0.092374 NA 0.065 NA 5.0371864 1148 11 9981165 9981165 A G intronic SBF2 NA NA NA ncRNA_exonic ENSG00000254765 NA NA NA Score=788;Name=lod=2116 NA 11p15.4 NA NA NA NA rs4909917 0.26 0.26 0.25 0.249002 0.2962 0.1895 0.3473 0.1717 0.2965 0.3 0.2 0.35 0.2 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649171 NA NA NA NA NA 0.275 NA 5.0371333 1148 12 122618131 122618131 A G exonic MLXIP NA synonymous SNV MLXIP:NM_014938:exon9:c.A1329G:p.P443P exonic ENSG00000175727 NA synonymous SNV ENSG00000175727:ENST00000538698:exon1:c.A150G:p.P50P,ENSG00000175727:ENST00000377037:exon2:c.A99G:p.P33P,ENSG00000175727:ENST00000319080:exon9:c.A1329G:p.P443P NA NA 12q24.31 NA NA NA NA rs36045144 0.24 0.24 0.215 0.22524 0.2306 0.2738 0.1974 0.2042 0.2178 0.24 0.3 0.22 0.18 0.2245 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538574 NA NA 0.175054 0.183659 NA 0.217 NA 5.0365126 1148 7 5567596 5567596 C T intronic ACTB NA NA NA intronic ENSG00000075624 NA NA NA NA NA 7p22.1 NA Name=Pol2(b),JunD,Pol2-4H8,HEY1,ZBTB33,Pol2,BCLAF1_(M33-P5B11) Name=132 NA rs852424 0.29 0.29 0.274 0.292133 0.3062 0.1806 0.3156 0.3737 0.2658 0.3 0.17 0.35 0.37 0.3247 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.383448 NA NA 0.332674 0.353382 NA 0.203 NA 5.036426 1148 17 63739352 63739352 A G intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA Score=614;Name=lod=418 NA 17q24.1 Score=841;Name=V$FOXO4_02 NA NA NA rs12948946 0.18 0.18 0.151 0.142372 0.3469 0.0774 0.1628 0.0477 0.1125 0.34 0.07 0.19 0.05 0.263 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.794721 1.794721 NA 0.353837 0.088516 NA 0.283 NA 5.036263 1148 6 31133870 31133870 G A UTR5 POU5F1 NM_203289:c.-151C>T NA NA UTR5 ENSG00000204531 ENST00000513407:c.-454C>T,ENST00000471529:c.-454C>T NA NA NA NA 6p21.33 NA NA Name=3 NA rs72856736 0.09 0.09 0.068 0.08127 0.1123 0.0347 0.1383 0.0666 0.0767 0.12 0.04 0.15 0.06 0.0982 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73368 NA NA 0.086628 0.058783 ID=COSN167726;OCCURENCE=1(large_intestine) 0.051 NA 5.0362054 1148 19 54848032 54848032 C T intronic LILRA4 NA NA NA ncRNA_intronic ENSG00000248166 NA NA NA NA NA 19q13.42 NA NA Name=3 NA rs62132194 0.11 0.11 0.107 0.096246 0.1412 NA 0.111 0.1384 0.0818 0.14 NA 0.14 0.15 0.156 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930545 NA NA NA NA NA 0.101 NA 5.0361333 1148 1 152283975 152283975 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T3387C:p.S1129S exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T3387C:p.S1129S NA NA 1q21.3 NA NA NA NA rs66831674 0.36 0.36 0.338 0.463059 0.172 0.6558 0.4524 0.5204 0.4939 0.16 0.58 0.34 0.45 0.2943 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042268 NA NA 0.164806 0.456423 NA 0.268 NA 5.0355606 1149 4 68810246 68810246 G A exonic TMPRSS11A NA synonymous SNV TMPRSS11A:NM_001114387:exon3:c.C243T:p.T81T,TMPRSS11A:NM_182606:exon3:c.C243T:p.T81T exonic ENSG00000187054 NA synonymous SNV ENSG00000187054:ENST00000513536:exon2:c.C183T:p.T61T,ENSG00000187054:ENST00000334830:exon3:c.C243T:p.T81T,ENSG00000187054:ENST00000396188:exon3:c.C243T:p.T81T,ENSG00000187054:ENST00000508048:exon3:c.C240T:p.T80T NA NA 4q13.2 NA NA NA NA rs1370840 0.31 0.31 0.3 0.327077 0.2157 0.1885 0.3761 0.5537 0.2434 0.21 0.19 0.32 0.57 0.2475 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.081402 NA NA 0.168721 0.494326 ID=COSM149682;OCCURENCE=1(stomach) 0.304 NA 5.0347456 1149 11 118890085 118890085 C T intronic TRAPPC4 NA NA NA UTR3 ENSG00000196655 ENST00000525079:c.*54C>T NA NA NA NA 11q23.3 NA NA Name=21 NA rs4938619 0.08 0.08 0.067 0.0764776 0.1322 0.0159 0.1369 0.0484 0.0767 0.13 0.01 0.14 0.07 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421436 NA NA NA NA NA 0.138 NA 5.0344667 1149 1 26653319 26653319 G A intronic AIM1L NA NA NA ncRNA_exonic ENSG00000225854 NA NA NA Score=644;Name=lod=553 NA 1p36.11 NA NA NA NA rs11588739 0.23 0.23 0.203 0.187101 0.3002 0.2649 0.2305 0.0582 0.1339 0.31 0.25 0.23 0.07 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263335 NA NA NA NA NA 0.225 NA 5.0331333 1149 2 110942150 110942150 G A intronic NPHP1 NA NA NA ncRNA_exonic ENSG00000233370 NA NA NA Score=803;Name=lod=2446 NA 2q13 NA NA NA NA rs881302 0.31 0.31 0.281 0.310703 0.3002 0.4544 0.3473 0.0968 0.4366 0.29 0.42 0.4 0.14 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028084 NA NA NA NA NA 0.232 NA 5.0331333 1149 7 149509807 149509807 C T intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 Score=828;Name=V$ARP1_01 NA NA NA rs740110 0.4 0.4 0.398 0.433706 0.3002 0.4296 0.3775 0.6089 0.3783 0.29 0.44 0.37 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19522 NA NA NA NA NA 0.413 NA 5.0331333 1149 16 10205824 10205824 C G intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs11641504 0.36 0.36 0.36 0.373602 0.3002 0.4583 0.2882 0.3888 0.4018 0.29 0.45 0.29 0.39 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194963 NA NA NA NA NA 0.268 NA 5.0331333 1149 7 149559273 149559273 C T exonic ZNF862 NA synonymous SNV ZNF862:NM_001099220:exon7:c.C3024T:p.L1008L exonic ENSG00000106479 NA synonymous SNV ENSG00000106479:ENST00000223210:exon7:c.C3024T:p.L1008L Score=381;Name=lod=47 NA 7q36.1 NA NA NA NA rs2074700 0.42 0.42 0.414 0.371206 0.5676 0.3264 0.4625 0.2368 0.3323 0.56 0.35 0.48 0.23 0.49 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309189 NA NA 0.576585 0.290191 NA 0.457 NA 5.0324816 1149 19 58117223 58117223 T A exonic ZNF530 NA nonsynonymous SNV ZNF530:NM_020880:exon3:c.T330A:p.H110Q exonic ENSG00000183647 NA nonsynonymous SNV ENSG00000183647:ENST00000332854:exon3:c.T330A:p.H110Q,ENSG00000183647:ENST00000600619:exon3:c.T330A:p.H110Q NA NA 19q13.43 NA NA NA NA rs2360543 0.76 0.76 0.741 0.746605 0.7932 0.6825 0.6527 0.8729 0.6605 0.77 0.62 0.73 0.91 0.736 0.91 1 T 0.0 B 0.0 B . . 1.000 P -1.835 N 3.65 T -1.018 T 0.000 T 0.015 -1.98 0.007 -0.789 -0.852 -0.591 2.213 -1.979703 NA 1 0.77186 0.85202 NA 0.79 NA 5.0322734 1149 1 76210289 76210289 C T intronic ACADM NA NA NA ncRNA_exonic ENSG00000181227 NA NA NA Score=663;Name=lod=657 NA 1p31.1 NA NA NA NA rs11161510 0.19 0.19 0.176 0.17512 0.3012 0.0238 0.2522 0.1377 0.1973 0.28 0.02 0.28 0.17 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.601919 1.601919 NA NA NA NA 0.217 NA 5.0321333 1149 2 133542014 133542014 T C exonic NCKAP5 NA synonymous SNV NCKAP5:NM_207363:exon14:c.A2370G:p.A790A exonic ENSG00000176771 NA synonymous SNV ENSG00000176771:ENST00000317721:exon12:c.A2370G:p.A790A,ENSG00000176771:ENST00000409261:exon14:c.A2370G:p.A790A NA NA 2q21.2 Score=742;Name=V$ROAZ_01 NA NA NA rs12616282 0.7 0.7 0.711 0.708466 0.507 0.8681 0.67 0.8328 0.6104 0.5 0.89 0.64 0.83 0.6003 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.560702 NA NA 0.527542 0.797929 NA 0.746 NA 5.0318246 1149 2 110942496 110942496 G A intronic NPHP1 NA NA NA ncRNA_exonic ENSG00000233370 NA NA NA Score=803;Name=lod=2446 NA 2q13 NA NA NA NA rs906815 0.36 0.36 0.346 0.36881 0.3022 0.5506 0.3516 0.1846 0.5112 0.29 0.54 0.4 0.22 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462828 NA NA NA NA NA 0.275 NA 5.0311333 1149 2 215145765 215145765 G A intronic SPAG16 NA NA NA ncRNA_exonic ENSG00000213917 NA NA NA Score=780;Name=lod=1970 NA 2q34 NA NA NA NA rs10490503 0.39 0.39 0.372 0.374201 0.3022 0.506 0.4236 0.3767 0.274 0.3 0.52 0.4 0.37 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119326 NA NA NA NA NA 0.297 NA 5.0311333 1149 15 36905834 36905834 T A intronic C15orf41 NA NA NA ncRNA_exonic ENSG00000261635 NA NA NA Score=758;Name=lod=1605 NA 15q14 NA NA NA NA rs12911214 0.25 0.25 0.228 0.261182 0.3022 0.2986 0.2248 0.1392 0.3712 0.32 0.27 0.21 0.16 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252538 NA NA NA NA NA 0.29 NA 5.0311333 1149 1 152280864 152280864 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T6498C:p.S2166S exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T6498C:p.S2166S NA NA 1q21.3 NA NA NA NA rs2184954 0.35 0.35 0.39 0.463658 0.172 0.6577 0.4524 0.5204 0.4949 0.15 0.57 0.33 0.4 0.2946 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268508 NA NA 0.168993 0.466636 NA 0.181 NA 5.0310736 1149 17 38609207 38609207 T C intronic IGFBP4 NA NA NA intronic ENSG00000141753 NA NA NA Score=272;Name=lod=17 NA 17q21.2 Score=828;Name=V$ATF_01 NA NA NA rs1009728 0.35 0.35 0.314 0.34365 0.3231 0.5317 0.3084 0.1815 0.4151 0.32 0.51 0.34 0.22 0.3309 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.965802 1.965802 NA 0.315349 0.231049 NA 0.239 NA 5.030651 1149 5 178349136 178349136 C T intronic ZFP2 NA NA NA ncRNA_exonic ENSG00000253869 NA NA NA Score=431;Name=lod=75 NA 5q35.3 NA NA NA NA rs60943644 0.29 0.29 0.269 0.305112 0.3032 0.3542 0.2853 0.1959 0.4182 0.3 0.37 0.28 0.2 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409264 NA NA NA NA NA 0.232 NA 5.0301333 1149 19 5273571 5273571 T G exonic PTPRS NA synonymous SNV PTPRS:NM_002850:exon4:c.A261C:p.A87A,PTPRS:NM_130853:exon4:c.A261C:p.A87A,PTPRS:NM_130854:exon4:c.A261C:p.A87A,PTPRS:NM_130855:exon4:c.A261C:p.A87A exonic ENSG00000105426 NA synonymous SNV ENSG00000105426:ENST00000587303:exon3:c.A261C:p.A87A,ENSG00000105426:ENST00000588012:exon3:c.A261C:p.A87A,ENSG00000105426:ENST00000590509:exon3:c.A261C:p.A87A,ENSG00000105426:ENST00000592099:exon3:c.A261C:p.A87A,ENSG00000105426:ENST00000262963:exon4:c.A261C:p.A87A,ENSG00000105426:ENST00000348075:exon4:c.A261C:p.A87A,ENSG00000105426:ENST00000353284:exon4:c.A261C:p.A87A,ENSG00000105426:ENST00000357368:exon4:c.A261C:p.A87A,ENSG00000105426:ENST00000372412:exon4:c.A261C:p.A87A,ENSG00000105426:ENST00000591760:exon4:c.A261C:p.A87A NA NA 19p13.3 NA NA NA NA rs1141371 0.17 0.17 0.179 0.163538 0.2266 0.002 0.1527 0.2943 0.0961 0.22 0.0035 0.16 0.29 0.1869 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321972 NA NA 0.223721 0.265093 NA 0.188 NA 5.0294456 1149 17 6652996 6652996 A G intergenic SLC13A5,XAF1 dist=36256;dist=6160 NA NA upstream;downstream ENSG00000244283;ENSG00000262990 NA NA NA NA NA 17p13.1 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=31 NA rs1567347 0.6 0.6 0.616 0.631989 0.4712 0.7351 0.4971 0.8086 0.5481 0.46 0.74 0.48 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066643 NA NA NA NA NA 0.543 NA 5.0288 1149 14 23312923 23312923 T C exonic MMP14 NA synonymous SNV MMP14:NM_004995:exon6:c.T855C:p.G285G exonic ENSG00000157227 NA synonymous SNV ENSG00000157227:ENST00000311852:exon6:c.T855C:p.G285G NA NA 14q11.2 NA NA NA NA rs2236307 0.28 0.28 0.272 0.271565 0.2018 0.3562 0.1671 0.3313 0.2495 0.19 0.37 0.18 0.37 0.225 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859187 NA NA 0.211163 0.304812 NA 0.261 NA 5.0287036 1149 22 24056537 24056537 G A ncRNA_intronic GUSBP11 NA NA NA ncRNA_intronic ENSG00000228315 NA NA NA Score=522;Name=lod=176 NA 22q11.23 NA NA NA NA rs2070444 0.46 0.46 0.427 0.440096 0.6382 0.3194 0.5994 0.2322 0.5286 0.64 0.33 0.6 0.24 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225942 NA NA NA NA NA 0.471 NA 5.0284666 1149 19 42373679 42373679 C T intronic RPS19 NA NA NA intronic ENSG00000105372 NA NA NA NA NA 19q13.2 NA Name=Pol2 Name=8 NA rs2075750 0.56 0.56 0.597 0.558506 0.4622 0.5089 0.5447 0.7663 0.4376 0.48 0.55 0.49 0.74 0.5094 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020954 NA NA NA NA NA 0.58 NA 5.0284 1149 1 18023877 18023877 G A UTR3 ARHGEF10L NM_018125:c.*2G>A,NM_001011722:c.*2G>A NA NA UTR3 ENSG00000074964 ENST00000452522:c.*2G>A,ENST00000361221:c.*2G>A,ENST00000375415:c.*2G>A,ENST00000375408:c.*2G>A,ENST00000167825:c.*2G>A NA NA NA NA 1p36.13 NA Name=CTCF NA NA rs11589634 0.1 0.1 0.097 0.0954473 0.1153 0.0615 0.049 0.1082 0.1258 0.12 0.07 0.07 0.11 0.0982 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.273677 NA NA 0.091598 0.103687 NA 0.174 NA 5.0282354 1149 3 185226492 185226492 C T UTR3 LIPH NM_139248:c.*86G>A NA NA UTR3 ENSG00000163898 ENST00000296252:c.*86G>A,ENST00000424591:c.*86G>A,ENST00000435679:c.*153G>A NA NA Score=265;Name=lod=16 NA 3q27.2 NA NA NA NA rs55854644 0.14 0.14 0.126 0.115016 0.3052 0.005 0.1427 0.0151 0.1483 0.32 0.01 0.15 0.03 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.362459 1.362459 NA NA NA NA 0.188 NA 5.0281334 1149 1 76209754 76209754 G A intronic ACADM NA NA NA ncRNA_exonic ENSG00000181227 NA NA NA Score=781;Name=lod=1981 NA 1p31.1 NA NA NA NA rs12123977 0.2 0.2 0.184 0.183307 0.3052 0.0228 0.3026 0.1362 0.2025 0.28 0.02 0.32 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.640533 2.640533 NA NA NA NA 0.217 NA 5.0281333 1149 12 104659095 104659095 C T intronic TXNRD1 NA NA NA ncRNA_exonic ENSG00000213442 NA NA NA Score=295;Name=lod=21 NA 12q23.3 NA NA NA NA rs35651749 0.14 0.14 0.103 0.114417 0.3052 0.0079 0.1427 0.0393 0.1094 0.29 0.0017 0.17 0.04 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.164143 NA NA NA NA NA 0.13 NA 5.0281333 1149 3 12537955 12537955 T A intronic TSEN2 NA NA NA intronic ENSG00000154743 NA NA NA NA NA 3p25.2 NA Name=FOXA1_(C-20),TCF4 Name=2 NA rs299651 0.42 0.42 0.434 0.366414 0.4791 0.1091 0.3703 0.6324 0.1534 0.49 0.11 0.43 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.225912 NA NA 0.493086 0.608382 NA 0.464 NA 5.027814 1149 3 9757086 9757086 C G intronic CPNE9 NA NA NA intronic ENSG00000144550 NA NA NA NA NA 3p25.3 NA Name=c-Myc,ZNF263 Name=13 NA rs697820 0.19 0.19 0.173 0.145767 0.3777 0.0595 0.2017 0.0144 0.1339 0.38 0.06 0.21 0.02 0.2571 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.444276 1.444276 NA 0.337618 0.068451 NA 0.138 NA 5.027582 1149 7 66019190 66019190 G A ncRNA_exonic LOC493754 NA NA NA ncRNA_intronic ENSG00000232559 NA NA NA Score=635;Name=lod=508 NA 7q11.21 NA NA NA NA rs13536 0.66 0.66 0.694 0.623403 0.6392 0.5466 0.6398 0.7595 0.4908 0.64 0.56 0.66 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163052 NA NA NA NA NA 0.609 NA 5.0274666 1149 7 66019631 66019631 A G ncRNA_exonic LOC493754 NA NA NA ncRNA_exonic ENSG00000232559 NA NA NA Score=718;Name=lod=1099 NA 7q11.21 NA NA NA NA rs801208 0.66 0.66 0.651 0.623203 0.6392 0.5456 0.6398 0.7595 0.4908 0.64 0.56 0.66 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472708 NA NA NA NA NA 0.609 NA 5.0274666 1149 7 66021966 66021966 C G ncRNA_intronic LOC493754 NA NA NA ncRNA_exonic ENSG00000177418,ENSG00000232491 NA NA NA Score=492;Name=lod=133 NA 7q11.21 NA NA NA NA rs801206 0.66 0.66 0.702 0.623203 0.6392 0.5456 0.6398 0.7595 0.4908 0.64 0.56 0.66 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327782 NA NA NA NA NA 0.5 NA 5.0274666 1149 7 142099484 142099484 G C intergenic LOC730441,MTRNR2L6 dist=127416;dist=274647 NA NA exonic ENSG00000229200 NA synonymous SNV ENSG00000229200:ENST00000390359:exon2:c.C318G:p.S106S NA NA 7q34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4732 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494272 NA NA NA NA NA NA NA 5.0268 1149 10 90438207 90438207 A G exonic LIPF NA synonymous SNV LIPF:NM_001198828:exon10:c.A867G:p.Q289Q,LIPF:NM_004190:exon10:c.A966G:p.Q322Q,LIPF:NM_001198829:exon11:c.A996G:p.Q332Q,LIPF:NM_001198830:exon11:c.A897G:p.Q299Q exonic ENSG00000182333 NA synonymous SNV ENSG00000182333:ENST00000238983:exon10:c.A966G:p.Q322Q,ENSG00000182333:ENST00000355843:exon11:c.A867G:p.Q289Q,ENSG00000182333:ENST00000394375:exon11:c.A996G:p.Q332Q NA NA 10q23.31 NA NA NA NA rs1228187 0.23 0.23 0.221 0.228435 0.2107 0.3274 0.3069 0.1248 0.229 0.21 0.34 0.27 0.1 0.2227 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073436 NA NA 0.206628 0.140263 NA 0.123 NA 5.0266386 1149 6 118320595 118320595 C A intronic SLC35F1 NA NA NA ncRNA_exonic ENSG00000230202 NA NA NA Score=325;Name=lod=28 NA 6q22.2 NA NA NA NA rs6928714 0.28 0.28 0.246 0.308506 0.3072 0.1845 0.3732 0.3313 0.3609 0.3 0.16 0.37 0.32 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.954976 2.954976 NA NA NA NA 0.275 NA 5.0261333 1149 15 91428290 91428290 C T exonic FES NA synonymous SNV FES:NM_001143783:exon1:c.C15T:p.S5S,FES:NM_001143784:exon1:c.C15T:p.S5S,FES:NM_001143785:exon2:c.C15T:p.S5S,FES:NM_002005:exon2:c.C15T:p.S5S exonic ENSG00000182511 NA synonymous SNV ENSG00000182511:ENST00000394300:exon1:c.C15T:p.S5S,ENSG00000182511:ENST00000444422:exon1:c.C15T:p.S5S,ENSG00000182511:ENST00000450438:exon1:c.C15T:p.S5S,ENSG00000182511:ENST00000328850:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000394302:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000414248:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000416779:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000443697:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000452243:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000464684:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000470152:exon2:c.C15T:p.S5S,ENSG00000182511:ENST00000559355:exon2:c.C15T:p.S5S NA NA 15q26.1 Score=768;Name=V$MEF2_01 NA NA NA rs11539637 0.6 0.6 0.568 0.58746 0.5258 0.8065 0.7277 0.382 0.6033 0.52 0.83 0.71 0.37 0.5849 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278459 NA NA 0.529898 0.422884 NA 0.464 NA 5.0260686 1149 1 152284854 152284854 A G exonic FLG NA synonymous SNV FLG:NM_002016:exon3:c.T2508C:p.D836D exonic ENSG00000143631 NA synonymous SNV ENSG00000143631:ENST00000368799:exon3:c.T2508C:p.D836D NA NA 1q21.3 NA NA NA NA rs3120653 0.4 0.4 0.35 0.473243 0.173 0.6558 0.4553 0.5567 0.4939 0.17 0.58 0.36 0.54 0.2978 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029537 NA NA 0.17 0.501135 NA 0.109 NA 5.0258666 1149 6 32190620 32190620 T C intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA Name=Circulating myeloperoxidase levels (serum) 6p21.32 NA Name=PU.1 NA NA rs3134931 0.42 0.42 0.405 0.454273 0.3151 0.5952 0.379 0.4849 0.4642 0.31 0.56 0.36 0.45 0.3557 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316169 NA NA 0.30407 0.46049 NA 0.326 NA 5.02513 1150 3 195507858 195507858 G T exonic MUC4 NA synonymous SNV MUC4:NM_018406:exon2:c.C10593A:p.T3531T exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000463781:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000466475:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000470451:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000475231:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000477086:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000477756:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000478156:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000479406:exon2:c.C10593A:p.T3531T,ENSG00000145113:ENST00000480843:exon2:c.C10593A:p.T3531T NA NA 3q29 NA NA NA NA rs74957513 NA NA 0.34 0.548722 0.5308 0.6736 0.4683 0.5696 0.4673 NA NA NA NA 0.1111 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671984 NA NA NA NA NA NA NA 5.0247666 1150 10 42831643 42831643 C T ncRNA_exonic LOC441666 NA NA NA downstream ENSG00000215146 NA NA NA NA NA 10q11.21 NA Name=ZNF274,SETDB1,KAP1 NA NA rs12264479 0.18 0.18 0.167 0.207867 0.1421 0.2202 0.1196 0.3313 0.1585 0.13 0.2 0.14 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817553 NA NA NA NA NA 0.138 NA 5.0245666 1150 2 215146151 215146151 G T intronic SPAG16 NA NA NA ncRNA_exonic ENSG00000213917 NA NA NA Score=780;Name=lod=1970 NA 2q34 NA NA NA NA rs4673816 0.39 0.39 0.381 0.375799 0.3091 0.505 0.4265 0.3767 0.274 0.3 0.52 0.41 0.37 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265164 NA NA NA NA NA 0.297 NA 5.0242333 1150 20 52037947 52037947 C A intronic TSHZ2 NA NA NA ncRNA_exonic ENSG00000224530 NA NA NA Score=592;Name=lod=339 NA 20q13.2 NA NA NA NA rs6063942 0.26 0.26 0.241 0.253794 0.3091 0.1399 0.2795 0.3018 0.2311 0.31 0.12 0.32 0.29 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283577 NA NA NA NA NA 0.152 NA 5.0242333 1150 3 158289035 158289035 T A UTR5 MLF1 NM_001195432:c.-11589T>A,NM_001195434:c.-21216T>A,NM_001195433:c.-21216T>A,NM_022443:c.-55T>A,NM_001130157:c.-21216T>A,NM_001130156:c.-21216T>A NA NA UTR5 ENSG00000178053 ENST00000355893:c.-55T>A,ENST00000491767:c.-25643T>A,ENST00000484955:c.-21216T>A,ENST00000359117:c.-21216T>A,ENST00000498592:c.-86T>A,ENST00000471745:c.-21216T>A,ENST00000495452:c.-55T>A,ENST00000477042:c.-21216T>A,ENST00000469452:c.-21216T>A,ENST00000482628:c.-21216T>A NA NA NA NA 3q25.32 NA Name=HEY1,CCNT2,c-Myc,Max,SETDB1,NF-YB,USF-1,IRF1,TBP,ETS1,E2F6_(H-50),GATA-1,TAF1,JunD,HMGN3,USF2,E2F4,RFX5_(N-494),SP1,NRSF,Pol2,eGFP-JunD,E2F6,GATA-2,Pol2-4H8,USF1_(SC-8983),c-Fos,HA-E2F1 NA NA rs3817373 0.17 0.17 0.163 0.196086 0.164 0.0565 0.1888 0.3041 0.2321 0.17 0.05 0.16 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.362649 2.362649 NA 0.145151 0.276734 NA 0.254 NA 5.0241824 1150 12 102158763 102158763 T C exonic GNPTAB NA synonymous SNV GNPTAB:NM_024312:exon13:c.A1932G:p.T644T exonic ENSG00000111670 NA synonymous SNV ENSG00000111670:ENST00000299314:exon13:c.A1932G:p.T644T NA NA 12q23.2 NA NA NA NA rs10778148 0.65 0.65 0.656 0.651358 0.5318 0.8978 0.5346 0.6241 0.6401 0.53 0.91 0.56 0.61 0.5885 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.17628 NA NA 0.522326 0.640944 ID=COSM1127589;OCCURENCE=1(prostate) 0.486 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082189.1;CLNDSDB=.;CLNDSDBID=. 5.0240406 1150 4 155312411 155312411 G A exonic DCHS2 NA synonymous SNV DCHS2:NM_017639:exon1:c.C39T:p.D13D exonic ENSG00000197410 NA synonymous SNV ENSG00000197410:ENST00000357232:exon1:c.C39T:p.D13D NA NA 4q31.3 NA NA NA NA rs62331900 0.28 0.28 0.285 0.321486 0.1948 0.3403 0.1311 0.4607 0.3793 0.19 0.32 0.17 0.46 0.2701 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462165 NA NA 0.177832 0.38851 NA 0.246 NA 5.0239346 1150 2 165477836 165477836 G A UTR5 GRB14 NM_004490:c.-17C>T NA NA UTR5 ENSG00000115290 ENST00000263915:c.-17C>T,ENST00000446413:c.-36C>T NA NA NA NA 2q24.3 NA Name=Pol2,E2F1,Pol2-4H8,HA-E2F1 NA NA rs10200142 0.09 0.09 0.084 0.0830671 0.1103 0.0268 0.0793 0.118 0.0685 0.1 0.04 0.09 0.13 0.1175 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88283 NA NA 0.08175 0.08649 NA NA NA 5.0237834 1150 9 19376255 19376255 A C UTR3 RPS6 NM_001010:c.*36T>G NA NA UTR3 ENSG00000137154 ENST00000380394:c.*36T>G NA NA NA NA 9p22.1 NA Name=CTCF_(SC-5916) NA NA rs67710536 0.17 0.17 0.186 0.21885 0.0944 0.0179 0.1254 0.5454 0.1789 0.08 0.02 0.11 0.53 0.1315 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570143 NA NA 0.084225 0.433243 NA 0.268 NA 5.0232084 1150 7 27088296 27088296 A G intergenic SKAP2,HOXA1 dist=183955;dist=44318 NA NA downstream ENSG00000213786 NA NA NA NA NA 7p15.2 NA Name=CTCF,Rad21,CTCF_(SC-5916) Name=3 NA rs2712232 0.46 0.46 0.45 0.46226 0.4771 0.4335 0.3963 0.5598 0.3916 0.47 0.41 0.38 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250177 NA NA NA NA NA 0.478 NA 5.0229 1150 20 52037978 52037978 A G intronic TSHZ2 NA NA NA ncRNA_exonic ENSG00000224530 NA NA NA Score=592;Name=lod=339 NA 20q13.2 NA NA NA NA rs6063943 0.19 0.19 0.152 0.175919 0.3111 0.1379 0.2565 0.0121 0.2403 0.31 0.12 0.29 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056227 NA NA NA NA NA 0.08 NA 5.0222333 1150 22 44386281 44386281 C T exonic SAMM50 NA synonymous SNV SAMM50:NM_015380:exon14:c.C1359T:p.G453G exonic ENSG00000100347 NA synonymous SNV ENSG00000100347:ENST00000396202:exon13:c.C729T:p.G243G,ENSG00000100347:ENST00000350028:exon14:c.C1359T:p.G453G NA NA 22q13.31 NA NA NA NA rs7587 0.23 0.23 0.23 0.222843 0.2068 0.3621 0.1657 0.1604 0.2209 0.22 0.34 0.18 0.16 0.2162 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80713 NA NA 0.221628 0.17113 NA 0.188 NA 5.0220386 1150 6 29550416 29550416 G A downstream SNORD32B NA NA NA ncRNA_exonic ENSG00000231301 NA NA NA Score=612;Name=lod=410 NA 6p22.1 NA NA NA NA rs1233392 0.17 0.17 0.181 0.151757 0.1451 0.2401 0.1859 0.1271 0.0767 0.14 0.24 0.18 0.12 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267586 NA NA NA NA NA 0.167 NA 5.0215666 1150 1 214656466 214656466 C G intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs61745824 NA NA 0.28 0.351837 0.3121 0.3095 0.3689 0.3994 0.3599 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.757667 1.757667 NA NA NA NA 0.08 NA 5.0212333 1150 12 1805467 1805467 C G intronic ADIPOR2 NA NA NA ncRNA_exonic ENSG00000271500 NA NA NA NA NA 12p13.33 NA NA Name=26 NA rs11061927 0.3 0.3 0.26 0.297125 0.3121 0.3353 0.4899 0.1445 0.3119 0.29 0.32 0.46 0.17 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435411 NA NA NA NA NA 0.196 NA 5.0212333 1150 13 27151170 27151170 A G intronic WASF3 NA NA NA ncRNA_exonic ENSG00000234031 NA NA NA Score=798;Name=lod=2331 NA 13q12.13 NA NA NA NA rs9319306 0.43 0.43 0.445 0.417332 0.3121 0.5754 0.4553 0.4486 0.2935 0.3 0.59 0.45 0.43 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671083 NA NA NA NA NA 0.304 NA 5.0212333 1150 6 31125402 31125402 C G UTR5 CCHCR1 NM_001105563:c.-25G>C,NM_001105564:c.-25G>C NA NA UTR5 ENSG00000204536 ENST00000396268:c.-25G>C,ENST00000426967:c.-25G>C,ENST00000488920:c.-25G>C,ENST00000506831:c.-587G>C NA NA NA NA 6p21.33 NA Name=ZBTB7A_(SC-34508) NA NA rs72856720 0.09 0.09 0.072 0.08127 0.1123 0.0347 0.1383 0.0666 0.0767 0.12 0.04 0.15 0.06 0.1159 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369464 1.369464 NA 0.084321 0.055287 NA 0.051 NA 5.0208124 1150 11 3982537 3982537 T G intronic STIM1 NA NA NA ncRNA_exonic ENSG00000255232 NA NA NA Score=374;Name=lod=44 NA 11p15.4 NA NA NA NA rs12223176 0.24 0.24 0.214 0.257188 0.3131 0.3214 0.2723 0.0166 0.4479 0.32 0.31 0.24 0.02 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254621 NA NA NA NA NA 0.232 NA 5.0202333 1150 15 31083568 31083568 A G intergenic LOC100288637,HERC2P10 dist=18359;dist=26671 NA NA upstream ENSG00000103832 NA NA NA NA NA 15q13.2 NA Name=TAF1,TCF4 Name=20 NA rs811768 0.45 0.45 0.424 0.475639 0.4801 0.1647 0.4539 0.7912 0.3804 0.47 0.13 0.43 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354794 NA NA NA NA NA 0.348 NA 5.0199 1150 11 33097652 33097652 G A upstream LINC00294 NA NA NA ncRNA_exonic ENSG00000213713 NA NA NA Score=645;Name=lod=559 NA 11p13 NA NA NA NA rs2273550 0.17 0.17 0.166 0.196086 0.1471 0.3383 0.0908 0.1051 0.2975 0.16 0.3 0.1 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055864 NA NA NA NA NA 0.152 NA 5.0195666 1150 4 156136027 156136027 C T exonic NPY2R NA synonymous SNV NPY2R:NM_000910:exon2:c.C936T:p.I312I exonic ENSG00000185149 NA synonymous SNV ENSG00000185149:ENST00000329476:exon2:c.C936T:p.I312I,ENSG00000185149:ENST00000506608:exon2:c.C936T:p.I312I Score=395;Name=lod=54 NA 4q32.1 NA NA NA NA rs2880415 0.66 0.66 0.687 0.656949 0.5447 0.7609 0.4914 0.823 0.5583 0.56 0.77 0.51 0.8 0.5734 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558554 NA NA 0.529302 0.768271 NA 0.667 NA 5.0192646 1150 9 18950787 18950787 G A exonic FAM154A NA nonsynonymous SNV FAM154A:NM_153707:exon2:c.C187T:p.P63S exonic ENSG00000155875 NA nonsynonymous SNV ENSG00000155875:ENST00000380530:exon2:c.C187T:p.P63S,ENSG00000155875:ENST00000380534:exon2:c.C187T:p.P63S NA NA 9p22.1 NA NA NA NA rs6475273 0.74 0.74 0.753 0.760184 0.7734 0.5685 0.7003 0.9107 0.7832 0.76 0.57 0.73 0.9 0.7581 0.9 0.89 T 0.0 B 0.001 B 0.934 N 1.000 P -0.665 N 1.64 T -0.983 T 0.000 T 0.029 -2.097 0.006 -0.118 0.006 -0.172 1.393 -2.096667 NA 0.8 0.782674 0.889696 ID=COSM1685399;OCCURENCE=1(skin) 0.688 NA 5.0191594 1150 16 90160948 90160948 G A intergenic PRDM7,NONE dist=18610;dist=NONE NA NA exonic ENSG00000261812 NA unknown UNKNOWN Score=585;Name=lod=317 NA 16q24.3 NA NA NA NA rs8049119 0.09 0.09 0.119 NA NA NA NA NA NA 0.12 NA 0.1 0.16 0.148 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333041 1.333041 0 NA NA NA 0.007 NA 5.0186667 1150 5 140554606 140554606 T C exonic PCDHB7 NA synonymous SNV PCDHB7:NM_018940:exon1:c.T2190C:p.F730F exonic ENSG00000113212 NA synonymous SNV ENSG00000113212:ENST00000231137:exon1:c.T2190C:p.F730F NA NA 5q31.3 NA NA NA NA rs11741863 0.26 0.26 0.19 0.269968 0.2296 0.5278 0.3055 0.0484 0.32 0.22 0.52 0.24 0.03 0.2554 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592257 NA NA 0.163605 0.049705 ID=COSM1434242;OCCURENCE=1(large_intestine) 0.297 NA 5.0180616 1150 7 43959493 43959493 G A intronic URGCP NA NA NA ncRNA_exonic ENSG00000237972 NA NA NA Score=843;Name=lod=3552 NA 7p13 NA NA NA NA rs11561791 0.39 0.39 0.39 0.459265 0.3171 0.504 0.366 0.4803 0.5971 0.32 0.45 0.39 0.43 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450476 NA NA NA NA NA 0.507 NA 5.0162333 1150 12 129429026 129429026 C T intronic GLT1D1 NA NA NA ncRNA_exonic ENSG00000255838 NA NA NA Score=563;Name=lod=259 NA 12q24.33 NA NA NA NA rs2398436 0.2 0.2 0.16 0.150958 0.3171 0.0774 0.3372 0.0083 0.1166 0.31 0.1 0.35 0.01 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268106 NA NA NA NA NA 0.167 NA 5.0162333 1150 19 55033234 55033234 G A intergenic LAIR2,KIR3DX1 dist=11334;dist=10675 NA NA downstream ENSG00000213016 NA NA NA NA NA 19q13.42 NA Name=NFKB,EBF,EBF1_(C-8),BATF Name=2 NA rs55813809 0.38 0.38 0.363 0.355831 0.4841 0.4544 0.304 0.1528 0.4335 0.47 0.45 0.36 0.15 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393772 NA NA NA NA NA 0.377 NA 5.0159 1150 6 111695887 111695887 G A exonic REV3L NA nonsynonymous SNV REV3L:NM_002912:exon13:c.C3671T:p.T1224I exonic ENSG00000009413 NA nonsynonymous SNV ENSG00000009413:ENST00000368802:exon13:c.C3671T:p.T1224I,ENSG00000009413:ENST00000358835:exon14:c.C3671T:p.T1224I,ENSG00000009413:ENST00000368805:exon14:c.C3671T:p.T1224I,ENSG00000009413:ENST00000435970:exon15:c.C3437T:p.T1146I NA NA 6q21 NA NA NA NA rs462779 0.59 0.59 0.584 0.586462 0.7883 0.4534 0.7435 0.3654 0.7035 0.78 0.47 0.72 0.35 0.7165 0.81 1 T 0.0 B 0.0 B 0.872 N 1.000 P -0.145 N 5.02 T -0.991 T 0.001 T 0.026 -0.982 0.288 1.45 -0.150 0.615 10.545 -0.981858 NA 1 0.812791 0.440282 NA 0.572 NA 5.0157424 1150 11 71277273 71277273 T G UTR3 KRTAP5-10 NM_001012710:c.*31T>G NA NA UTR3 ENSG00000204572 ENST00000398531:c.*31T>G NA NA NA NA 11q13.4 NA NA Name=6 NA rs66487667 0.13 0.13 0.123 0.125399 0.1183 0.0903 0.1196 0.2095 0.0593 0.11 0.09 0.11 0.21 0.1065 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425923 NA NA 0.092942 0.178409 NA 0.094 NA 5.0155914 1150 2 132201663 132201663 T C ncRNA_exonic LOC401010 NA NA NA ncRNA_exonic ENSG00000217950 NA NA NA Score=346;Name=lod=34 NA 2q21.1 NA NA NA NA rs1317139 0.53 0.53 0.517 0.55012 0.2674 0.7629 0.6066 0.7216 0.3497 0.25 0.73 0.54 0.72 0.3838 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175279 NA NA NA NA NA 0.5 NA 5.0154666 1150 11 6503127 6503127 G A intronic TIMM10B NA NA NA intronic ENSG00000132286,ENSG00000265264 NA NA NA NA NA 11p15.4 NA Name=Pol2-4H8 Name=6 NA rs2303492 0.25 0.25 0.241 0.226038 0.3529 0.13 0.3573 0.1384 0.2198 0.34 0.15 0.37 0.14 0.3003 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307098 NA NA 0.331704 0.168333 NA 0.261 NA 5.015096 1151 20 34025756 34025756 A G UTR5 GDF5 NM_000557:c.-48T>C NA NA UTR5 ENSG00000125965 ENST00000374372:c.-48T>C,ENST00000374369:c.-48T>C NA NA Score=832;Name=lod=3206 Name=Height 20q11.22 NA NA NA NA rs143384 0.49 0.49 0.508 0.561102 0.4115 0.2887 0.3429 0.9728 0.5941 0.41 0.24 0.39 0.96 0.4744 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.512248 1.512248 NA 0.432665 0.875284 NA 0.551 NA 5.0147684 1151 1 205320469 205320469 G A intronic KLHDC8A NA NA NA ncRNA_exonic ENSG00000235363 NA NA NA Score=654;Name=lod=608 NA 1q32.1 NA NA NA NA rs4951205 0.35 0.35 0.307 0.329273 0.3191 0.4722 0.4265 0.2148 0.2781 0.33 0.48 0.36 0.23 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.689997 1.689997 NA NA NA ID=COSN163408;OCCURENCE=1(NS) 0.319 NA 5.0142333 1151 17 37992281 37992281 C T intronic IKZF3 NA NA NA ncRNA_exonic ENSG00000264663 NA NA NA Score=669;Name=lod=695 NA 17q12 NA NA NA NA rs62066988 0.22 0.22 0.233 0.188299 0.3191 0.2083 0.2435 0.0424 0.1912 0.31 0.24 0.25 0.05 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534271 NA NA NA NA NA 0.275 NA 5.0142333 1151 1 26608828 26608828 G A exonic UBXN11 NA nonsynonymous SNV UBXN11:NM_001077262:exon11:c.C1165T:p.P389S,UBXN11:NM_145345:exon15:c.C1426T:p.P476S,UBXN11:NM_183008:exon16:c.C1525T:p.P509S exonic ENSG00000158062 NA nonsynonymous SNV ENSG00000158062:ENST00000314675:exon11:c.C1165T:p.P389S,ENSG00000158062:ENST00000374223:exon12:c.C796T:p.P266S,ENSG00000158062:ENST00000357089:exon14:c.C1426T:p.P476S,ENSG00000158062:ENST00000374217:exon15:c.C1426T:p.P476S,ENSG00000158062:ENST00000374221:exon16:c.C1525T:p.P509S,ENSG00000158062:ENST00000374222:exon16:c.C1525T:p.P509S NA NA 1p36.11 NA NA NA NA rs1134584 0.37 0.37 0.473 0.393371 0.6292 0.3095 0.402 0.3555 0.2822 0.49 0.26 0.35 0.34 0.0218 0.67 0.2 T . . . . 0.244 U 1.000 P 0.695 N 2.0 T -1.019 T 0.000 T 0.101 -0.841 0.571 . 0.064 -0.877 . -0.841059 NA 0 0.668352 0.475 NA 0.232 NA 5.0139814 1151 16 87678165 87678165 G A exonic JPH3 NA synonymous SNV JPH3:NM_020655:exon2:c.G684A:p.S228S exonic ENSG00000154118 NA synonymous SNV ENSG00000154118:ENST00000284262:exon2:c.G684A:p.S228S NA NA 16q24.2 NA NA NA NA rs3751725 0.22 0.22 0.181 0.185903 0.2028 0.3204 0.2291 0.0454 0.1892 0.23 0.35 0.2 0.04 0.2208 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808874 NA NA 0.229419 0.072566 NA 0.159 NA 5.0136476 1151 7 139727135 139727135 G A exonic PARP12 NA synonymous SNV PARP12:NM_022750:exon10:c.C1569T:p.F523F exonic ENSG00000059378 NA synonymous SNV ENSG00000059378:ENST00000263549:exon10:c.C1569T:p.F523F NA NA 7q34 NA NA NA NA rs2286196 0.32 0.32 0.301 0.302117 0.1998 0.5258 0.3631 0.2799 0.1636 0.19 0.52 0.33 0.28 0.2523 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.348602 2.348602 NA 0.201279 0.279392 NA 0.254 NA 5.0132876 1151 19 53912521 53912521 G A UTR3 ZNF765 NM_001040185:c.*141G>A NA NA UTR3 ENSG00000196417 ENST00000396408:c.*141G>A NA NA Score=329;Name=lod=29 NA 19q13.42 NA NA NA NA rs73059151 0.21 0.21 0.185 0.227636 0.3201 0.1042 0.3775 0.0522 0.3906 0.33 0.09 0.35 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25022 NA NA NA NA NA 0.188 NA 5.0132334 1151 6 84102550 84102550 A C intronic ME1 NA NA NA ncRNA_exonic ENSG00000219951 NA NA NA Score=770;Name=lod=1800 NA 6q14.2 NA NA NA NA rs12191369 0.22 0.22 0.183 0.188498 0.3201 0.1101 0.3703 0.0953 0.1309 0.31 0.1 0.33 0.11 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576457 NA NA NA NA NA 0.217 NA 5.0132333 1151 4 121958691 121958691 T C exonic NDNF NA synonymous SNV NDNF:NM_024574:exon4:c.A435G:p.L145L exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon4:c.A435G:p.L145L,ENSG00000173376:ENST00000515757:exon4:c.A435G:p.L145L NA NA 4q27 NA NA NA NA rs3733559 0.2 0.2 0.178 0.22504 0.2038 0.2351 0.3357 0.0998 0.3272 0.22 0.22 0.3 0.08 0.2421 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105449 NA NA 0.208123 0.11422 NA 0.167 NA 5.0126436 1151 11 71515610 71515610 A G ncRNA_intronic ALG1L9P NA NA NA ncRNA_exonic ENSG00000254978 NA NA NA Score=505;Name=lod=150 NA 11q13.4 NA NA NA NA rs10898623 0.5 0.5 0.374 0.494209 0.6541 0.4573 0.4366 0.3124 0.6544 0.65 0.46 0.48 0.35 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390639 NA NA NA NA NA 0.5 NA 5.0125666 1151 17 2966308 2966308 C T exonic OR1D5 NA synonymous SNV OR1D5:NM_014566:exon1:c.G594A:p.A198A exonic ENSG00000262628 NA synonymous SNV ENSG00000262628:ENST00000575751:exon1:c.G594A:p.A198A NA NA 17p13.3 NA NA NA NA rs2855605 NA NA 0.243 NA NA NA NA NA NA NA NA NA NA 0.3103 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.47065 NA NA 0.344077 0.362534 NA NA NA 5.0122896 1151 19 51767205 51767205 C T UTR5 SIGLECL1 NM_173635:c.-122C>T NA NA ncRNA_UTR5 ENSG00000179213 NA NA NA NA NA 19q13.41 NA Name=PU.1 NA NA rs6509523 0.58 0.58 0.553 0.576478 0.4881 0.5079 0.7075 0.7965 0.3476 0.5 0.47 0.67 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978417 NA NA NA NA NA 0.616 NA 5.0119 1151 13 99853225 99853225 C G UTR5 UBAC2 NM_177967:c.-441C>G NA NA UTR5 ENSG00000134882 ENST00000376440:c.-441C>G,ENST00000457666:c.-165C>G NA NA NA NA 13q32.3 NA Name=Pol2,NRSF,EBF1_(C-8),Pol2-4H8 NA NA rs7332516 0.08 0.08 0.045 0.140575 0.0755 0.0972 0.1383 0.0908 0.3211 0.08 0.08 0.1 0.09 0.1592 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.12158 3.12158 NA 0.086809 0.074194 NA 0.043 NA 5.0118244 1151 14 107170055 107170055 G A intergenic LINC00221,NONE dist=218526;dist=NONE NA NA exonic ENSG00000211973 NA nonsynonymous SNV ENSG00000211973:ENST00000390633:exon2:c.C227T:p.T76I NA NA 14q32.33 NA NA Name=5 NA rs8009570 0.42 0.42 0.382 NA NA NA NA NA NA 0.39 0.49 0.45 0.37 0.4369 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.259874 NA 0.27 0.385127 0.320346 NA 0.399 NA 5.0113064 1151 8 33246685 33246685 G A exonic FUT10 NA synonymous SNV FUT10:NM_032664:exon4:c.C1008T:p.Y336Y exonic ENSG00000172728 NA synonymous SNV ENSG00000172728:ENST00000518672:exon3:c.C924T:p.Y308Y,ENSG00000172728:ENST00000327671:exon4:c.C1008T:p.Y336Y,ENSG00000172728:ENST00000524021:exon4:c.C924T:p.Y308Y,ENSG00000172728:ENST00000335589:exon5:c.C822T:p.Y274Y NA NA 8p12 NA NA NA NA rs16880852 0.27 0.27 0.255 0.298722 0.1938 0.4683 0.17 0.1808 0.4826 0.21 0.47 0.17 0.18 0.2586 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.444034 NA NA 0.20314 0.207898 ID=COSM150483;OCCURENCE=1(stomach) 0.225 NA 5.0111266 1151 18 10526187 10526187 A G intronic NAPG NA NA NA intronic ENSG00000134265 NA NA NA NA NA 18p11.22 NA Name=TBP,YY1,Pol2-4H8,HA-E2F1,Pol2,YY1_(C-20),TAF1 Name=147 NA rs2290279 0.38 0.38 0.373 0.346046 0.3509 0.4177 0.3112 0.3608 0.272 0.35 0.45 0.33 0.38 0.323 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.328452 1.328452 NA 0.315045 0.342105 NA 0.312 NA 5.011055 1151 3 148863151 148863151 A G exonic HPS3 NA synonymous SNV HPS3:NM_032383:exon5:c.A981G:p.T327T exonic ENSG00000163755 NA synonymous SNV ENSG00000163755:ENST00000460120:exon4:c.A486G:p.T162T,ENSG00000163755:ENST00000296051:exon5:c.A981G:p.T327T NA NA 3q24 NA NA NA NA rs11718908 0.25 0.25 0.247 0.277556 0.1998 0.1706 0.2363 0.4546 0.2577 0.2 0.15 0.24 0.45 0.2409 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86492 NA NA 0.215 0.42828 NA 0.297 NA 5.0109666 1151 9 140001978 140001978 C A intronic MAN1B1 NA NA NA intronic ENSG00000177239 NA NA NA NA NA 9q34.3 NA Name=HNF4G_(SC-6558),HNF4A_(H-171) NA NA rs12115325 0.18 0.18 0.175 0.178315 0.3449 0.006 0.2233 0.062 0.3098 0.35 0.0017 0.25 0.09 0.2838 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.006639 NA NA 0.360349 0.11961 NA 0.283 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117581.2;CLNDSDB=.;CLNDSDBID=. 5.010951 1151 1 10459779 10459779 G A intronic PGD NA NA NA intronic ENSG00000142657 NA NA NA NA NA 1p36.22 NA Name=HA-E2F1,Pol2 Name=105 NA rs3737155 0.36 0.36 0.342 0.334465 0.338 0.3403 0.3732 0.3434 0.2853 0.34 0.36 0.4 0.36 0.3233 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250586 1.250586 NA 0.327791 0.32887 NA 0.304 NA 5.010909 1151 20 44594228 44594228 G A intronic ZNF335 NA NA NA intronic ENSG00000198026 NA NA NA NA NA 20q13.12 NA Name=EBF1_(C-8),NFKB,TCF12 Name=6 NA rs3746513 0.23 0.23 0.2 0.234824 0.3549 0.0923 0.219 0.171 0.3558 0.35 0.09 0.26 0.18 0.2906 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861127 NA NA 0.343648 0.18537 NA 0.225 NA 5.010852 1151 15 63449543 63449543 A C intronic RPS27L NA NA NA intronic ENSG00000185088 NA NA NA NA NA 15q22.2 NA Name=USF-1,THAP1_(SC-98174),GATA2_(CG2-96),TBP,NFKB,HEY1,c-Myc,CCNT2,ZBTB7A_(SC-34508),PAX5-N19,PAX5-C20,Egr-1,NANOG_(SC-33759),Ini1,Pol2-4H8,ZNF263,KAP1,Sin3Ak-20,HA-E2F1,Pol2(b),ELK4,FOXA1_(C-20),GTF2F1_(RAP-74),FOXA2_(SC-6554),FOXA1_(SC-101058),ELF1_(SC-631),Max,Oct-2,NRSF,Mxi1_(bHLH),Pol2,E2F6,MEF2A,BCLAF1_(M33-P5B11),TAF7_(SQ-8),ETS1,TAF1,HMGN3,POU2F2 Name=148 NA rs7170846 0.3 0.3 0.263 0.269968 0.4901 0.2242 0.2695 0.146 0.2587 0.48 0.2 0.3 0.14 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293316 NA NA 0.499371 0.21315 NA 0.268 NA 5.010529 1151 4 40337908 40337908 T C exonic CHRNA9 NA synonymous SNV CHRNA9:NM_017581:exon2:c.T129C:p.S43S exonic ENSG00000174343 NA synonymous SNV ENSG00000174343:ENST00000310169:exon2:c.T129C:p.S43S Score=614;Name=lod=418 NA 4p14 NA NA NA NA rs10022491 0.6 0.6 0.604 0.644369 0.5338 0.4008 0.6427 0.9334 0.6196 0.53 0.39 0.66 0.92 0.5767 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993192 NA NA 0.545814 0.866773 NA 0.638 NA 5.0103526 1151 14 65543102 65543102 C T UTR3 MAX NM_145113:c.*364G>A,NM_145112:c.*92G>A,NM_002382:c.*92G>A NA NA UTR3 ENSG00000125952 ENST00000358402:c.*92G>A,ENST00000394606:c.*348G>A,ENST00000555932:c.*67G>A,ENST00000284165:c.*1419G>A,ENST00000358664:c.*92G>A,ENST00000555419:c.*92G>A NA NA Score=412;Name=lod=63 NA 14q23.3 NA NA NA NA rs45604339 0.22 0.22 0.211 0.203075 0.3231 0.1329 0.1686 0.1278 0.2781 0.32 0.16 0.19 0.14 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.326213 NA NA NA NA NA 0.203 NA 5.0102334 1151 4 40788210 40788210 T C intronic NSUN7 NA NA NA ncRNA_exonic ENSG00000248780 NA NA NA Score=755;Name=lod=1557 NA 4p14 NA NA NA NA rs2437314 0.25 0.25 0.241 0.215455 0.3231 0.1409 0.1902 0.3026 0.0818 0.31 0.16 0.22 0.3 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.058314 3.058314 NA NA NA ID=COSN167187;OCCURENCE=1(large_intestine) 0.268 NA 5.0102333 1151 10 99160046 99160046 C T intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA Name=Sin3Ak-20,c-Jun,JunD,FOSL1_(SC-183),Pol2,eGFP-JunD,TAF1,GABP Name=137 NA rs2297668 0.37 0.37 0.386 0.400759 0.336 0.3125 0.3444 0.5386 0.4121 0.33 0.28 0.33 0.56 0.338 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26871 NA NA 0.316512 0.497049 NA 0.297 NA 5.009488 1151 1 76209935 76209935 T C intronic ACADM NA NA NA ncRNA_exonic ENSG00000181227 NA NA NA Score=443;Name=lod=84 NA 1p31.1 NA NA NA NA rs1146580 0.32 0.32 0.298 0.31849 0.3241 0.0228 0.3617 0.5991 0.2076 0.3 0.02 0.38 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146338 NA NA NA NA NA 0.333 NA 5.0092333 1151 13 41195411 41195411 G A intronic FOXO1 NA NA NA ncRNA_exonic ENSG00000229456 NA NA NA Score=609;Name=lod=399 NA 13q14.11 NA NA NA NA rs12583418 0.5 0.5 0.488 0.520367 0.3241 0.7371 0.4063 0.59 0.4857 0.32 0.71 0.38 0.61 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012772 NA NA NA NA NA 0.442 NA 5.0092333 1151 19 45451620 45451620 T A ncRNA_intronic APOC4-APOC2 NA NA NA UTR5 ENSG00000234906 ENST00000585786:c.-116T>A NA NA NA NA 19q13.32 NA Name=Egr-1 NA NA rs5120 0.65 0.65 0.614 0.669928 0.4911 0.6558 0.7349 0.8033 0.6421 0.51 0.67 0.69 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556197 NA NA NA NA NA 0.667 NA 5.0089 1151 2 18768850 18768850 A G exonic NT5C1B,NT5C1B-RDH14 NA synonymous SNV NT5C1B:NM_001002006:exon2:c.T39C:p.P13P,NT5C1B:NM_001199086:exon2:c.T39C:p.P13P,NT5C1B:NM_001199087:exon2:c.T39C:p.P13P,NT5C1B:NM_001199088:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199103:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199104:exon2:c.T39C:p.P13P,NT5C1B:NM_033253:exon2:c.T39C:p.P13P exonic ENSG00000185013,ENSG00000250741 NA synonymous SNV ENSG00000185013:ENST00000304081:exon2:c.T39C:p.P13P,ENSG00000185013:ENST00000359846:exon2:c.T39C:p.P13P,ENSG00000185013:ENST00000406971:exon2:c.T39C:p.P13P,ENSG00000185013:ENST00000416783:exon2:c.T39C:p.P13P,ENSG00000250741:ENST00000444297:exon2:c.T39C:p.P13P,ENSG00000250741:ENST00000532967:exon2:c.T39C:p.P13P,ENSG00000185013:ENST00000600945:exon2:c.T39C:p.P13P NA NA 2p24.2 NA NA NA NA rs16985306 0.3 0.3 0.325 0.31849 0.1998 0.1151 0.3199 0.6649 0.181 0.21 0.11 0.3 0.65 0.2499 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.213006 NA NA 0.208372 0.587835 NA 0.297 NA 5.0085946 1151 8 75516199 75516199 G C ncRNA_intronic FLJ39080 NA NA NA ncRNA_exonic ENSG00000253341 NA NA NA Score=722;Name=lod=1147 NA 8q21.11 NA NA NA NA rs3802201 0.71 0.71 0.751 0.705671 0.6581 0.6587 0.6037 0.9327 0.5685 0.66 0.67 0.62 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.565972 1.565972 NA NA NA NA 0.754 NA 5.0085666 1151 4 8616096 8616096 T C exonic CPZ NA synonymous SNV CPZ:NM_003652:exon8:c.T1341C:p.D447D,CPZ:NM_001014447:exon9:c.T1374C:p.D458D,CPZ:NM_001014448:exon9:c.T963C:p.D321D exonic ENSG00000109625 NA synonymous SNV ENSG00000109625:ENST00000429646:exon7:c.T198C:p.D66D,ENSG00000109625:ENST00000315782:exon8:c.T1341C:p.D447D,ENSG00000109625:ENST00000360986:exon9:c.T1374C:p.D458D,ENSG00000109625:ENST00000382480:exon9:c.T963C:p.D321D Score=563;Name=lod=258 NA 4p16.1 NA NA NA NA rs1131140 0.62 0.62 0.566 0.616813 0.5517 0.87 0.6671 0.3782 0.7096 0.55 0.9 0.64 0.4 0.5753 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469528 NA NA 0.531279 0.431003 NA 0.551 NA 5.0083876 1151 16 57111232 57111232 C T exonic NLRC5 NA synonymous SNV NLRC5:NM_032206:exon40:c.C4860T:p.D1620D exonic ENSG00000140853 NA synonymous SNV ENSG00000140853:ENST00000539144:exon38:c.C4773T:p.D1591D,ENSG00000140853:ENST00000308149:exon40:c.C4773T:p.D1591D,ENSG00000140853:ENST00000262510:exon41:c.C4860T:p.D1620D NA NA 16q13 NA NA NA NA rs11864231 0.18 0.18 0.156 0.172524 0.2326 0.1468 0.1816 0.1036 0.2239 0.24 0.16 0.21 0.08 0.2126 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406577 NA NA 0.213372 0.134213 NA 0.138 NA 5.0080946 1151 21 11029679 11029679 C G UTR3 BAGE2,BAGE3 NM_182482:c.*977G>C;NM_182481:c.*977G>C NA NA ncRNA_exonic ENSG00000187172 NA NA NA Score=699;Name=lod=922 NA 21p11.1 NA NA NA NA rs10446163 NA NA 0.34 0.497604 0.492 0.498 0.4986 0.5 0.499 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270421 NA NA NA NA NA NA NA 5.008 1151 19 46281745 46281745 A G intronic DMPK NA NA NA intronic ENSG00000104936 NA NA NA NA NA 19q13.32 Score=923;Name=V$AREB6_01 NA NA NA rs1799894 0.6 0.6 0.579 NA NA NA NA NA NA 0.47 0.68 0.64 0.68 0.5351 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322863 NA NA 0.457093 0.652519 NA 0.536 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116882.1;CLNDSDB=.;CLNDSDBID=. 5.007807 1151 1 17250836 17250836 A G exonic CROCC NA synonymous SNV CROCC:NM_014675:exon3:c.A213G:p.T71T exonic ENSG00000058453 NA synonymous SNV ENSG00000058453:ENST00000375541:exon3:c.A213G:p.T71T NA NA 1p36.13 NA NA NA NA rs57174186 0.36 0.36 0.329 NA NA NA NA NA NA 0.34 0.42 0.33 0.35 0.3367 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222971 NA NA 0.322284 0.378348 ID=COSM424603;OCCURENCE=3(breast) 0.275 NA 5.0076826 1151 19 20959141 20959141 C G intergenic ZNF626,ZNF85 dist=114739;dist=146918 NA NA UTR5 ENSG00000160229 ENST00000360204:c.-16240C>G,ENST00000594534:c.-113C>G NA NA NA NA 19p12 NA Name=IRF3,NFKB,HEY1,TBP,GATA-2,Pol2-4H8,Sin3Ak-20,RFX5_(N-494),NF-YB,ELF1_(SC-631),CHD2_(N-1250),GABP,NF-YA,SP2_(SC-643),TAF1,TAF7_(SQ-8),Pol2,SP1 Name=140 NA rs6511160 0.76 0.76 0.739 0.742212 0.826 0.7014 0.6931 0.68 0.817 0.86 0.73 0.71 0.68 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413261 NA NA NA NA NA 0.732 NA 5.0073334 1151 17 76472768 76472768 G A exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon52:c.C8040T:p.L2680L exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon52:c.C7998T:p.L2666L,ENSG00000187775:ENST00000585328:exon52:c.C8025T:p.L2675L NA NA 17q25.3 NA NA NA NA rs7405830 0.35 0.35 0.388 0.375599 0.1909 0.2798 0.2435 0.761 0.2372 0.19 0.27 0.23 0.76 0.275 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149699 NA NA 0.193463 0.655422 NA 0.355 NA 5.0073036 1151 7 55266417 55266417 T C exonic EGFR NA synonymous SNV EGFR:NM_005228:exon23:c.T2709C:p.T903T exonic ENSG00000146648 NA synonymous SNV ENSG00000146648:ENST00000455089:exon22:c.T2574C:p.T858T,ENSG00000146648:ENST00000275493:exon23:c.T2709C:p.T903T,ENSG00000146648:ENST00000454757:exon23:c.T2550C:p.T850T NA NA 7p11.2 NA NA Name=10 NA rs1140475 0.91 0.91 0.913 0.916733 0.8907 0.9196 0.8963 0.9281 0.9397 0.89 0.92 0.88 0.94 0.8957 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608185 NA NA 0.873256 0.919882 NA 0.942 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038451.1;CLNDSDB=.;CLNDSDBID=. 5.0070106 1151 2 105705507 105705507 C T exonic MRPS9 NA synonymous SNV MRPS9:NM_182640:exon6:c.C555T:p.L185L exonic ENSG00000135972 NA synonymous SNV ENSG00000135972:ENST00000258455:exon6:c.C555T:p.L185L NA NA 2q12.1 NA NA NA NA rs11538198 0.18 0.18 0.156 0.166933 0.2247 0.1091 0.2781 0.1339 0.1329 0.22 0.13 0.25 0.13 0.1942 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.22253 NA NA 0.24081 0.14503 NA 0.13 NA 5.0069566 1151 2 105713697 105713697 A G exonic MRPS9 NA synonymous SNV MRPS9:NM_182640:exon10:c.A1014G:p.S338S exonic ENSG00000135972 NA synonymous SNV ENSG00000135972:ENST00000258455:exon10:c.A1014G:p.S338S NA NA 2q12.1 NA NA NA NA rs15567 0.18 0.18 0.153 0.166933 0.2247 0.1091 0.2781 0.1339 0.1329 0.22 0.13 0.25 0.13 0.1943 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.013629 2.013629 NA 0.240814 0.146391 NA 0.13 NA 5.0068526 1151 1 229622162 229622162 A G exonic NUP133 NA synonymous SNV NUP133:NM_018230:exon11:c.T1456C:p.L486L exonic ENSG00000069248 NA synonymous SNV ENSG00000069248:ENST00000261396:exon11:c.T1456C:p.L486L,ENSG00000069248:ENST00000366679:exon11:c.T1456C:p.L486L,ENSG00000069248:ENST00000537506:exon12:c.T1408C:p.L470L NA NA 1q42.13 NA NA NA NA rs1065675 0.28 0.28 0.296 0.303714 0.2097 0.1607 0.3285 0.5809 0.1554 0.21 0.14 0.28 0.57 0.2334 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92712 NA NA 0.216744 0.525647 ID=COSM146815;OCCURENCE=1(stomach) 0.283 NA 5.0068226 1151 2 71297982 71297982 C T intronic NAGK NA NA NA intronic ENSG00000124357 NA NA NA NA NA 2p13.3 NA Name=TBP,PAX5-C20,PAX5-N19,Pol2-4H8,Pol2,TAF1 Name=15 NA rs2287327 0.41 0.41 0.413 0.436502 0.2992 0.3978 0.353 0.5613 0.5082 0.29 0.42 0.38 0.6 0.369 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455545 NA NA 0.326163 0.53064 NA 0.362 NA 5.005637 1151 15 38643574 38643574 T C exonic SPRED1 NA synonymous SNV SPRED1:NM_152594:exon7:c.T1044C:p.V348V exonic ENSG00000166068 NA synonymous SNV ENSG00000166068:ENST00000299084:exon7:c.T1044C:p.V348V Score=786;Name=lod=2076 NA 15q14 NA NA NA NA rs3751526 0.82 0.82 0.811 0.799521 0.9006 0.8026 0.8415 0.649 0.8661 0.92 0.8 0.82 0.71 0.8637 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160681 NA NA 0.896905 0.685682 NA 0.848 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Legius_syndrome|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000034272.2|RCV000041236.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK47312:C1969623:611431:ORPHA137605|. 5.0054616 1151 4 156135676 156135676 C T exonic NPY2R NA synonymous SNV NPY2R:NM_000910:exon2:c.C585T:p.I195I exonic ENSG00000185149 NA synonymous SNV ENSG00000185149:ENST00000329476:exon2:c.C585T:p.I195I,ENSG00000185149:ENST00000506608:exon2:c.C585T:p.I195I NA NA 4q32.1 Score=812;Name=V$CART1_01 NA NA NA rs1047214 0.69 0.69 0.728 0.70028 0.5447 0.8115 0.5014 0.9395 0.5634 0.56 0.8 0.51 0.91 0.5864 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074254 NA NA 0.530116 0.871766 NA 0.696 NA 5.0054506 1151 17 2211001 2211001 G A intronic SRR NA NA NA ncRNA_exonic ENSG00000262333 NA NA NA Score=629;Name=lod=482 NA 17p13.3 NA NA NA NA rs116875739 0.21 0.21 0.169 0.169529 0.328 0.0784 0.4164 0.0219 0.1247 0.31 0.12 0.41 0.03 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326505 NA NA NA NA NA 0.138 NA 5.0053333 1152 19 35719257 35719257 G A exonic FAM187B NA synonymous SNV FAM187B:NM_152481:exon1:c.C327T:p.D109D exonic ENSG00000177558 NA synonymous SNV ENSG00000177558:ENST00000324675:exon1:c.C327T:p.D109D Score=340;Name=lod=32 NA 19q13.12 NA NA NA NA rs11673347 0.32 0.32 0.289 0.284145 0.5944 0.0357 0.3732 0.1346 0.3599 0.59 0.03 0.41 0.16 0.4703 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63685 NA NA 0.597093 0.202678 ID=COSM1392803;OCCURENCE=1(large_intestine) 0.319 NA 5.0048736 1152 5 141335284 141335284 G A exonic PCDH12 NA synonymous SNV PCDH12:NM_016580:exon1:c.C2133T:p.A711A exonic ENSG00000113555 NA synonymous SNV ENSG00000113555:ENST00000231484:exon1:c.C2133T:p.A711A Score=304;Name=lod=23 NA 5q31.3 NA NA NA NA rs164074 0.6 0.6 0.563 0.597045 0.5497 0.8581 0.6599 0.323 0.7025 0.54 0.86 0.64 0.34 0.5827 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338531 NA NA 0.529419 0.370177 NA 0.609 NA 5.0048476 1152 19 4352959 4352959 A G exonic MPND NA synonymous SNV MPND:NM_001159846:exon4:c.A597G:p.A199A,MPND:NM_032868:exon4:c.A597G:p.A199A exonic ENSG00000008382 NA synonymous SNV ENSG00000008382:ENST00000596722:exon3:c.A693G:p.A231A,ENSG00000008382:ENST00000262966:exon4:c.A597G:p.A199A,ENSG00000008382:ENST00000359935:exon4:c.A597G:p.A199A,ENSG00000008382:ENST00000594716:exon4:c.A597G:p.A199A,ENSG00000008382:ENST00000599840:exon4:c.A597G:p.A199A NA NA 19p13.3 NA Name=CTCF NA NA rs11882587 0.62 0.62 0.577 0.653554 0.5328 0.7718 0.7176 0.6362 0.6339 0.52 0.74 0.65 0.61 0.5842 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410084 NA NA 0.544963 0.629536 NA 0.543 NA 5.0047036 1152 5 79596415 79596415 C T upstream LOC644936 NA NA NA ncRNA_intronic ENSG00000184188 NA NA NA Score=300;Name=lod=22 NA 5q14.1 NA NA NA NA rs62364042 0.13 0.13 0.104 0.147963 0.162 NA 0.1326 0.2821 0.1155 0.14 NA 0.15 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18461 NA NA NA NA NA NA NA 5.0046666 1152 5 79596416 79596416 C T upstream LOC644936 NA NA NA ncRNA_intronic ENSG00000184188 NA NA NA Score=300;Name=lod=22 NA 5q14.1 NA NA NA NA rs62364043 0.13 0.13 0.104 0.147963 0.162 NA 0.1326 0.2821 0.1155 0.13 NA 0.14 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475506 NA NA NA NA NA NA NA 5.0046666 1152 11 62430659 62430659 T A intronic C11orf48 NA NA NA exonic ENSG00000162194 NA nonsynonymous SNV ENSG00000162194:ENST00000525675:exon3:c.A311T:p.D104V NA NA 11q12.3 NA NA NA NA rs597259 0.74 0.74 0.714 0.766174 0.7296 0.9385 0.7579 0.6445 0.7965 0.73 0.93 0.71 0.58 0.7351 0.93 0 D . . . . . . 1.000 P . . . . -1.064 T 0.000 T 0.087 -0.42 2.04 0.774 0.076 -0.048 3.636 -0.420214 NA NA 0.697488 0.650318 NA 0.652 NA 5.0044787 1152 9 90140230 90140230 A C intronic DAPK1 NA NA NA ncRNA_exonic ENSG00000219928 NA NA NA Score=643;Name=lod=548 NA 9q21.33 NA NA NA NA rs7048072 0.25 0.25 0.23 0.234225 0.329 0.0645 0.2061 0.3865 0.1258 0.31 0.06 0.22 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.795637 1.795637 NA NA NA NA NA NA 5.0043333 1152 9 90140231 90140231 G C intronic DAPK1 NA NA NA ncRNA_exonic ENSG00000219928 NA NA NA Score=643;Name=lod=548 NA 9q21.33 NA NA NA NA rs7048413 0.25 0.25 0.232 0.234225 0.329 0.0645 0.2061 0.3865 0.1258 0.31 0.06 0.22 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.534132 1.534132 NA NA NA NA NA NA 5.0043333 1152 2 90260191 90260191 T C intergenic MIR4436A,LOC654342 dist=1148223;dist=1564518 NA NA exonic ENSG00000239819 NA synonymous SNV ENSG00000239819:ENST00000471857:exon2:c.T294C:p.S98S Score=524;Name=lod=180 NA 2p11.2 NA NA NA NA rs842157 0.19 0.19 0.203 0.239816 0.167 0.0833 0.1455 0.5477 0.1268 0.16 0.07 0.12 0.45 0.1701 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.496797 NA NA 0.158753 0.5078 NA 0.167 NA 5.004147 1152 11 94533373 94533373 C T exonic AMOTL1 NA synonymous SNV AMOTL1:NM_130847:exon3:c.C1017T:p.P339P exonic ENSG00000166025 NA synonymous SNV ENSG00000166025:ENST00000317829:exon2:c.C867T:p.P289P,ENSG00000166025:ENST00000317837:exon3:c.C1017T:p.P339P,ENSG00000166025:ENST00000433060:exon3:c.C1017T:p.P339P NA NA 11q21 NA NA NA NA rs2303960 0.26 0.26 0.222 0.261382 0.1889 0.4444 0.464 0.0719 0.2597 0.18 0.44 0.41 0.07 0.2667 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185905 NA NA 0.207264 0.092323 NA 0.181 NA 5.0038026 1152 20 44506418 44506418 G A exonic ZSWIM3 NA synonymous SNV ZSWIM3:NM_080752:exon2:c.G1221A:p.R407R exonic ENSG00000132801 NA synonymous SNV ENSG00000132801:ENST00000255152:exon2:c.G1221A:p.R407R,ENSG00000132801:ENST00000454862:exon3:c.G1203A:p.R401R NA NA 20q13.12 Score=767;Name=V$AHR_01 NA NA NA rs1045493 0.5 0.5 0.467 0.477037 0.5517 0.4573 0.6441 0.3268 0.5051 0.58 0.47 0.6 0.33 0.549 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167601 NA NA 0.562326 0.394689 NA 0.319 NA 5.0036406 1152 19 51363448 51363448 A G UTR3 KLK3 NM_001648:c.*65A>G,NM_001030047:c.*576A>G,NM_001030048:c.*65A>G NA NA UTR3 ENSG00000142515 ENST00000422986:c.*507A>G,ENST00000326003:c.*65A>G,ENST00000595392:c.*352A>G,ENST00000595952:c.*65A>G,ENST00000360617:c.*576A>G,ENST00000598145:c.*65A>G NA NA NA NA 19q13.33 NA Name=ELF1_(SC-631) NA NA rs1058274 0.21 0.21 0.208 0.204073 0.33 0.0575 0.1499 0.2254 0.2352 0.32 0.06 0.16 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221491 NA NA NA NA NA 0.232 NA 5.0033334 1152 20 1538249 1538249 C T exonic SIRPD NA synonymous SNV SIRPD:NM_178460:exon1:c.G51A:p.L17L exonic ENSG00000125900,ENSG00000260861 NA synonymous SNV ENSG00000125900:ENST00000381621:exon1:c.G51A:p.L17L,ENSG00000125900:ENST00000381623:exon1:c.G51A:p.L17L NA NA 20p13 NA NA NA NA rs2250055 0.11 0.11 0.096 0.107029 0.2306 0.0188 0.1153 0.0219 0.18 0.22 0.02 0.13 0.02 0.1938 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932329 NA NA 0.238953 0.057195 NA 0.051 NA 5.0033136 1152 6 12294258 12294258 A G exonic EDN1 NA synonymous SNV EDN1:NM_001168319:exon3:c.A315G:p.E105E,EDN1:NM_001955:exon3:c.A318G:p.E106E exonic ENSG00000078401 NA synonymous SNV ENSG00000078401:ENST00000379375:exon3:c.A318G:p.E106E NA NA 6p24.1 NA Name=GR,Pol2 Name=31 NA rs5369 0.9 0.9 0.896 0.901358 0.8807 0.9772 0.8963 0.8306 0.9438 0.89 0.99 0.89 0.84 0.9027 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.039699 NA NA 0.88093 0.855197 NA 0.877 NA 5.0023366 1152 1 168215575 168215575 G A ncRNA_exonic ANKRD36BP1 NA NA NA ncRNA_exonic ENSG00000214262 NA NA NA Score=395;Name=lod=54 NA 1q24.2 NA NA NA NA rs2205697 0.51 0.51 0.491 0.457867 0.665 0.4385 0.5216 0.3109 0.4182 0.67 0.44 0.54 0.32 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679382 NA NA NA NA NA 0.514 NA 5.0016666 1152 5 89820984 89820984 T C exonic LYSMD3 NA synonymous SNV LYSMD3:NM_198273:exon2:c.A123G:p.E41E exonic ENSG00000176018 NA synonymous SNV ENSG00000176018:ENST00000315948:exon2:c.A123G:p.E41E,ENSG00000176018:ENST00000453259:exon2:c.A123G:p.E41E,ENSG00000176018:ENST00000509384:exon2:c.A123G:p.E41E,ENSG00000176018:ENST00000500869:exon3:c.A123G:p.E41E Score=676;Name=lod=743 NA 5q14.3 NA NA NA NA rs10069050 0.58 0.58 0.626 0.61262 0.5408 0.6081 0.428 0.7678 0.6125 0.53 0.57 0.44 0.75 0.5627 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.060303 NA NA 0.562076 0.722193 NA 0.63 NA 5.0010906 1152 7 100552978 100552978 T C intergenic ACHE,MUC12 dist=59437;dist=59926 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000414964:exon1:c.T93C:p.N31N,ENSG00000169894:ENST00000422757:exon1:c.T93C:p.N31N,ENSG00000169894:ENST00000319509:exon2:c.T1623C:p.N541N Score=278;Name=lod=18 NA 7q22.1 NA NA NA NA rs73163765 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014832 NA NA NA NA NA 0.5 NA 5.001 1152 1 168215505 168215505 A G ncRNA_exonic ANKRD36BP1 NA NA NA ncRNA_exonic ENSG00000214262 NA NA NA Score=395;Name=lod=54 NA 1q24.2 NA NA NA NA rs2205698 0.55 0.55 0.537 0.505591 0.666 0.4385 0.5303 0.4864 0.4182 0.67 0.44 0.55 0.48 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017183 NA NA NA NA NA 0.558 NA 5.0006666 1152 11 3913738 3913738 A G intronic STIM1 NA NA NA ncRNA_exonic ENSG00000230593 NA NA NA Score=711;Name=lod=1029 NA 11p15.4 NA NA NA NA rs10767684 0.27 0.27 0.237 0.295527 0.333 0.3442 0.2954 0.1619 0.3875 0.33 0.34 0.22 0.12 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018184 NA NA NA NA NA 0.232 NA 5.0003333 1152 7 100549650 100549650 A G intergenic ACHE,MUC12 dist=56109;dist=63254 NA NA exonic ENSG00000228273 NA synonymous SNV ENSG00000228273:ENST00000379458:exon2:c.A231G:p.T77T NA NA 7q22.1 NA Name=CTCF NA NA rs73398716 NA NA NA 0.00179712 NA 0.0089 NA NA NA NA NA NA NA 0.4999 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526708 NA NA NA NA NA 0.406 NA 5.0001 1152 1 1581926 1581926 G T intronic CDK11B NA NA NA intronic ENSG00000248333 NA NA NA NA NA 1p36.33 NA NA Name=11 NA rs61774917 NA NA 0.189 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45024 NA NA NA NA NA NA NA 5 1152 1 11854671 11854671 C A intronic MTHFR NA NA NA intronic ENSG00000177000 NA NA NA NA NA 1p36.22 NA NA Name=6 NA rs12121543 0.19 0.19 0.191 NA NA NA NA NA NA 0.27 0.18 0.14 0.13 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963486 NA NA NA NA NA 0.174 NA 5 1152 1 16935283 16935283 T C intronic NBPF1 NA NA NA intronic ENSG00000219481 NA NA NA NA NA 1p36.13 NA Name=ELF1_(SC-631) NA NA rs1762922 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28083 NA NA NA NA NA 0.413 NA 5 1152 1 16969715 16969715 A G intergenic CROCCP2,MST1P2 dist=12314;dist=2354 NA NA ncRNA_intronic ENSG00000215908 NA NA NA Score=355;Name=lod=37 NA 1p36.13 NA NA NA NA rs9329444 NA NA 0.461 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023335 NA NA NA NA NA 0.152 NA 5 1152 1 26898575 26898575 C T intronic RPS6KA1 NA NA NA intronic ENSG00000117676 NA NA NA NA NA 1p36.11 NA NA NA NA NA NA NA 0.001 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833038 NA NA NA NA NA 0.007 NA 5 1152 1 34002922 34002922 C G intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310988 NA NA NA NA NA NA NA 5 1152 1 39845250 39845250 A G intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.349185 2.349185 NA NA NA NA NA NA 5 1152 1 39934228 39934228 G A intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487404 NA NA NA NA NA NA NA 5 1152 1 43126352 43126352 C T intronic PPIH NA NA NA intronic ENSG00000171960 NA NA NA NA NA 1p34.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610516 NA NA NA NA NA NA NA 5 1152 1 59096652 59096652 C A intergenic TACSTD2,MYSM1 dist=53486;dist=23759 NA NA ncRNA_exonic ENSG00000185839 NA NA NA Score=606;Name=lod=386 NA 1p32.1 NA NA NA NA rs78363929 NA NA 0.015 NA NA NA NA NA NA NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844175 NA NA NA NA NA 0.101 NA 5 1152 1 59096669 59096669 C G intergenic TACSTD2,MYSM1 dist=53503;dist=23742 NA NA ncRNA_exonic ENSG00000185839 NA NA NA Score=606;Name=lod=386 NA 1p32.1 NA NA NA NA rs75913621 NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611 NA NA NA NA NA 0.123 NA 5 1152 1 111731211 111731211 T C intronic DENND2D NA NA NA intronic ENSG00000162777 NA NA NA NA NA 1p13.3 NA NA NA NA NA NA NA NA 0.00139776 NA NA NA NA 0.0072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438662 NA NA NA NA NA NA NA 5 1152 1 116287403 116287403 A G intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48642 NA NA NA NA NA NA NA 5 1152 1 144868239 144868239 G A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA Name=2 NA rs1618966 NA NA 0.257 NA NA NA NA NA NA NA NA NA NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141623 NA NA NA NA NA 0.181 NA 5 1152 1 144886409 144886409 A C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA Name=18 NA rs1620507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24625 NA NA NA NA NA 0.5 NA 5 1152 1 144916486 144916486 T G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA Name=3 NA rs1699798 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559601 NA NA NA NA NA 0.5 NA 5 1152 1 144916493 144916493 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA Name=3 NA rs1699799 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864697 NA NA NA NA NA 0.5 NA 5 1152 1 145290320 145290320 C T intronic NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000213240,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA Name=37 NA rs2949607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352461 NA NA NA NA NA 0.174 NA 5 1152 1 145290346 145290346 A G intronic NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000213240,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA Name=37 NA rs2746747 NA NA 0.374 NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343432 NA NA NA NA NA 0.174 NA 5 1152 1 145290377 145290377 T C intronic NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000213240,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA Name=37 NA rs2982633 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521424 NA NA NA NA NA 0.007 NA 5 1152 1 145297788 145297788 G A intronic NBPF10,NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA Name=8 NA rs55732260 0.2 0.2 0.173 NA NA NA NA NA NA 0.32 0.12 0.31 0.04 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505872 NA NA NA NA NA NA NA 5 1152 1 149262554 149262554 T C intergenic LOC645166,LOC388692 dist=309500;dist=16922 NA NA ncRNA_exonic ENSG00000223779,ENSG00000242352 NA NA NA Score=794;Name=lod=2242 NA 1q21.2 NA NA NA NA rs656978 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159895 NA NA NA NA NA 0.145 NA 5 1152 1 149726239 149726239 T A intergenic LINC00869,HIST2H2BF dist=53506;dist=28006 NA NA ncRNA_exonic ENSG00000226500 NA NA NA Score=358;Name=lod=38 NA 1q21.2 NA NA NA NA rs646092 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742105 NA NA NA NA NA 0.007 NA 5 1152 1 197513928 197513928 G A intronic DENND1B NA NA NA intronic ENSG00000213047 NA NA NA NA NA 1q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928033 NA NA NA NA NA 0.007 NA 5 1152 1 201020335 201020335 G T intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232822 NA NA NA NA NA NA NA 5 1152 1 203677315 203677315 T G intronic ATP2B4 NA NA NA intronic ENSG00000058668 NA NA NA NA NA 1q32.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.264031 1.264031 NA NA NA NA NA NA 5 1152 1 204499738 204499738 C T intronic MDM4 NA NA NA intronic ENSG00000198625 NA NA NA NA NA 1q32.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.072516 2.072516 NA NA NA NA NA NA 5 1152 1 227680783 227680783 T C intergenic CDC42BPA,ZNF678 dist=174957;dist=70437 NA NA ncRNA_exonic ENSG00000237469 NA NA NA Score=840;Name=lod=3441 NA 1q42.13 NA NA NA NA rs2814075 NA NA 0.653 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087828 NA NA NA NA NA 0.225 NA 5 1152 2 71191498 71191498 A T intronic ATP6V1B1 NA NA NA intronic ENSG00000116039,ENSG00000258881 NA NA NA NA NA 2p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537466 NA NA NA NA NA NA NA 5 1152 2 91778140 91778140 C T intergenic NONE,LOC654342 dist=NONE;dist=46569 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=62 NA rs2557999 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283603 NA NA NA NA NA 0.457 NA 5 1152 2 91778144 91778144 G A intergenic NONE,LOC654342 dist=NONE;dist=46565 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=62 NA rs2557998 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202824 NA NA NA NA NA 0.457 NA 5 1152 2 91778168 91778168 G C intergenic NONE,LOC654342 dist=NONE;dist=46541 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=62 NA rs2454365 NA NA 0.66 NA NA NA NA NA NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192193 NA NA NA NA NA 0.362 NA 5 1152 2 91800035 91800035 T C intergenic NONE,LOC654342 dist=NONE;dist=24674 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=BRF2 NA NA rs2537108 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082638 NA NA NA NA NA 0.5 NA 5 1152 2 91800106 91800106 T C intergenic NONE,LOC654342 dist=NONE;dist=24603 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=SUZ12,BRF2 NA NA rs2537114 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099221 NA NA NA NA NA 0.5 NA 5 1152 2 91800832 91800832 C T intergenic NONE,LOC654342 dist=NONE;dist=23877 NA NA ncRNA_exonic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=8 NA rs1640041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29217 1.29217 NA NA NA NA 0.101 NA 5 1152 2 91800863 91800863 T G intergenic NONE,LOC654342 dist=NONE;dist=23846 NA NA ncRNA_exonic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=8 NA rs1640042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091298 NA NA NA NA NA 0.5 NA 5 1152 2 91800939 91800939 T C intergenic NONE,LOC654342 dist=NONE;dist=23770 NA NA ncRNA_exonic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=8 NA rs1640043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22589 NA NA NA NA NA 0.5 NA 5 1152 2 91805122 91805122 T C intergenic NONE,LOC654342 dist=NONE;dist=19587 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=3 NA rs1811227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213721 NA NA NA NA NA 0.5 NA 5 1152 2 91809039 91809039 G A intergenic NONE,LOC654342 dist=NONE;dist=15670 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=54 NA rs1649490 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82792 NA NA NA NA NA 0.493 NA 5 1152 2 91809227 91809227 A G intergenic NONE,LOC654342 dist=NONE;dist=15482 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=54 NA rs2536993 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582529 NA NA NA NA NA 0.471 NA 5 1152 2 91924804 91924804 T C intergenic LOC654342,GGT8P dist=76829;dist=38564 NA NA ncRNA_exonic ENSG00000223703 NA NA NA Score=563;Name=lod=260 NA 2p11.1 NA NA NA NA rs925176 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075532 NA NA NA NA NA NA NA 5 1152 2 95400720 95400720 C G intergenic NONE,FAM95A dist=NONE;dist=20351 NA NA ncRNA_exonic ENSG00000227265 NA NA NA Score=517;Name=lod=168 NA 2q11.1 NA NA NA NA rs199537868 NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.986405 NA NA NA NA NA NA NA 5 1152 2 130751606 130751606 G A intergenic RAB6C,LOC440905 dist=11295;dist=31966 NA NA ncRNA_exonic ENSG00000217289 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA rs12692104 NA NA 0.497 NA NA NA NA NA NA NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096766 NA NA NA NA NA 0.094 NA 5 1152 2 130751619 130751619 C T intergenic RAB6C,LOC440905 dist=11308;dist=31953 NA NA ncRNA_intronic ENSG00000180178 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA rs111243295 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064887 NA NA NA NA NA 0.029 NA 5 1152 2 130751655 130751655 C T intergenic RAB6C,LOC440905 dist=11344;dist=31917 NA NA ncRNA_intronic ENSG00000180178 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA rs151120298 NA NA 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238889 NA NA NA NA NA NA NA 5 1152 2 130987180 130987180 G C intergenic TUBA3E,CCDC115 dist=31146;dist=108636 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=582;Name=lod=310 NA 2q21.1 NA NA NA NA rs13407565 0.08 0.08 0.07 NA NA NA NA NA NA 0.04 0.08 0.1 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134722 NA NA NA NA NA 0.043 NA 5 1152 2 130987233 130987233 C T intergenic TUBA3E,CCDC115 dist=31199;dist=108583 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=458;Name=lod=97 NA 2q21.1 NA NA NA NA rs72863885 NA NA 0.216 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021672 NA NA NA NA NA 0.022 NA 5 1152 2 130987239 130987239 G A intergenic TUBA3E,CCDC115 dist=31205;dist=108577 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=458;Name=lod=97 NA 2q21.1 NA NA NA NA rs72863888 NA NA 0.229 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007805 NA NA NA NA NA 0.014 NA 5 1152 2 130988166 130988166 A G intergenic TUBA3E,CCDC115 dist=32132;dist=107650 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs201275727 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026731 NA NA NA NA NA NA NA 5 1152 2 130988203 130988203 C T intergenic TUBA3E,CCDC115 dist=32169;dist=107613 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs3888998 NA NA 0.185 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213249 NA NA NA NA NA 0.022 NA 5 1152 2 130988216 130988216 C G intergenic TUBA3E,CCDC115 dist=32182;dist=107600 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs3888997 NA NA 0.217 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359119 NA NA NA NA NA 0.022 NA 5 1152 2 130988276 130988276 C T intergenic TUBA3E,CCDC115 dist=32242;dist=107540 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs3894178 NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085906 NA NA NA NA NA NA NA 5 1152 2 133067025 133067025 C G intergenic ANKRD30BL,GPR39 dist=51483;dist=107122 NA NA ncRNA_intronic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs2459643 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364132 NA NA NA NA NA 0.493 NA 5 1152 2 133070449 133070449 T C intergenic ANKRD30BL,GPR39 dist=54907;dist=103698 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=289;Name=lod=20 NA 2q21.2 NA NA NA NA rs2459647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325494 NA NA NA NA NA 0.5 NA 5 1152 2 133075298 133075298 T C intergenic ANKRD30BL,GPR39 dist=59756;dist=98849 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=391;Name=lod=52 NA 2q21.2 NA NA NA NA rs75737268 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563338 NA NA NA NA NA 0.493 NA 5 1152 2 133075386 133075386 G A intergenic ANKRD30BL,GPR39 dist=59844;dist=98761 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=363;Name=lod=40 NA 2q21.2 NA NA NA NA rs7349216 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227576 NA NA NA NA NA 0.5 NA 5 1152 2 133075674 133075674 G C intergenic ANKRD30BL,GPR39 dist=60132;dist=98473 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=325;Name=lod=28 NA 2q21.2 NA NA NA NA rs7340192 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103387 NA NA NA NA NA 0.464 NA 5 1152 2 133075726 133075726 A G intergenic ANKRD30BL,GPR39 dist=60184;dist=98421 NA NA ncRNA_exonic ENSG00000018607 NA NA NA Score=437;Name=lod=80 NA 2q21.2 NA NA NA NA rs2598810 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.40236 1.40236 NA NA NA NA 0.5 NA 5 1152 2 133076032 133076032 T G intergenic ANKRD30BL,GPR39 dist=60490;dist=98115 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=SETDB1 NA NA rs2598809 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994168 NA NA NA NA NA 0.5 NA 5 1152 2 176190719 176190719 G C intergenic ATP5G3,KIAA1715 dist=144229;dist=599691 NA NA ncRNA_intronic ENSG00000229066 NA NA NA NA NA 2q31.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050077 NA NA NA NA NA NA NA 5 1152 2 204056014 204056014 T C intronic NBEAL1 NA NA NA intronic ENSG00000144426 NA NA NA NA NA 2q33.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.603186 1.603186 NA NA NA NA NA NA 5 1152 2 242285721 242285721 C T intronic SEPT2 NA NA NA intronic ENSG00000168385 NA NA NA NA NA 2q37.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747905 NA NA NA NA NA NA NA 5 1152 3 49725948 49725948 C T intronic MST1 NA NA NA intronic ENSG00000173531 NA NA NA NA NA 3p21.31 NA NA Name=2 NA rs141881740 NA NA 0.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245085 NA NA NA NA NA NA NA 5 1152 3 49735224 49735224 C G intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.191751 2.191751 NA NA NA NA NA NA 5 1152 3 53220865 53220865 G T intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.947927 1.947927 NA NA NA NA NA NA 5 1152 3 58127508 58127508 G A intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45172 NA NA NA NA NA NA NA 5 1152 4 7728370 7728370 A T intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426614 NA NA NA NA NA 0.007 NA 5 1152 4 8176449 8176449 C T intergenic ABLIM2,SH3TC1 dist=15890;dist=24611 NA NA ncRNA_exonic ENSG00000250471 NA NA NA Score=714;Name=lod=1062 NA 4p16.1 NA NA NA NA rs73799619 0.0032 0.0032 0.004 0.00698882 NA NA 0.0058 0.0234 NA NA NA NA 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.611358 1.611358 NA NA NA NA 0.007 NA 5 1152 4 40133587 40133587 A G intronic N4BP2 NA NA NA intronic ENSG00000078177 NA NA NA NA NA 4p14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.694695 1.694695 NA NA NA NA NA NA 5 1152 4 70115136 70115136 A C intergenic UGT2B11,UGT2B28 dist=34687;dist=31081 NA NA ncRNA_exonic ENSG00000249763 NA NA NA Score=401;Name=lod=57 NA 4q13.2 NA NA NA NA rs181686292 0.0014 0.0014 NA 0.000998403 NA NA 0.0058 0.0008 NA NA NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046543 NA NA NA NA NA NA NA 5 1152 4 74951801 74951801 A G intergenic PPBPP2,CXCL2 dist=30685;dist=10953 NA NA ncRNA_exonic ENSG00000251017 NA NA NA Score=452;Name=lod=92 NA 4q13.3 NA NA NA NA rs57958350 0.01 0.01 0.011 0.0139776 NA NA 0.0029 0.0514 NA NA NA 0.0028 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147154 NA NA NA NA NA 0.007 NA 5 1152 4 87024258 87024258 G A intronic MAPK10 NA NA NA intronic ENSG00000109339 NA NA NA NA NA 4q21.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.289721 2.289721 NA NA NA NA NA NA 5 1152 4 120170142 120170142 A G intronic USP53 NA NA NA intronic ENSG00000145390 NA NA NA NA NA 4q26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408106 NA NA NA NA NA NA NA 5 1152 4 124322633 124322633 C A intronic SPRY1 NA NA NA intronic ENSG00000164056 NA NA NA NA NA 4q28.1 NA NA Name=11 NA rs300573 0.43 0.43 0.162 NA NA NA NA NA NA 0.61 0.38 0.49 0.18 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.273764 NA NA NA NA NA 0.355 NA 5 1152 4 146377363 146377363 G A intergenic OTUD4,SMAD1 dist=276531;dist=25588 NA NA ncRNA_exonic ENSG00000248745 NA NA NA Score=355;Name=lod=37 NA 4q31.21 NA NA NA NA rs150280278 0.0018 0.0018 0.001 0.000998403 NA NA 0.0014 0.003 NA 0.0013 NA 0.0028 0.0041 NA 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038018 NA NA NA NA NA NA NA 5 1152 4 156828804 156828804 T C intronic TDO2 NA NA NA intronic ENSG00000151790 NA NA NA NA NA 4q32.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456924 NA NA NA NA NA NA NA 5 1152 4 159772353 159772353 T C intronic FNIP2 NA NA NA intronic ENSG00000052795 NA NA NA NA NA 4q32.1 NA Name=CTCF NA NA rs190383616 0.0014 0.0014 NA 0.00279553 NA NA 0.0029 0.0091 NA NA NA 0.0028 0.0041 NA 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863922 NA NA NA NA NA NA NA 5 1152 4 190838674 190838674 A C intergenic LOC401164,FRG1 dist=1315612;dist=23300 NA NA ncRNA_intronic ENSG00000245685 NA NA NA NA NA 4q35.2 NA NA Name=5 NA rs62343961 NA NA 0.306 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945264 NA NA NA NA NA NA NA 5 1152 4 190894826 190894826 G A intergenic FRG1,LOC100288255 dist=10467;dist=50697 NA NA ncRNA_exonic ENSG00000249462 NA NA NA Score=471;Name=lod=109 NA 4q35.2 NA NA NA NA rs73027003 NA NA 0.161 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068433 NA NA NA NA NA NA NA 5 1152 4 190894898 190894898 G A intergenic FRG1,LOC100288255 dist=10539;dist=50625 NA NA ncRNA_exonic ENSG00000249462 NA NA NA Score=471;Name=lod=109 NA 4q35.2 NA NA NA NA rs73027006 NA NA 0.149 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690282 NA NA NA NA NA NA NA 5 1152 5 6750385 6750385 G T intronic PAPD7 NA NA NA intronic ENSG00000112941 NA NA NA NA NA 5p15.31 NA NA NA NA NA NA NA NA 0.00159744 NA 0.001 NA NA 0.0072 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82733 NA NA NA NA NA 0.007 NA 5 1152 5 53155463 53155463 G T intergenic NDUFS4,ARL15 dist=176292;dist=25151 NA NA ncRNA_exonic ENSG00000217791 NA NA NA Score=641;Name=lod=538 NA 5q11.2 NA NA NA NA rs271252 0.44 0.44 0.412 NA NA NA NA NA NA 0.54 0.29 0.55 0.39 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057227 NA NA NA NA NA 0.486 NA 5 1152 5 68602799 68602799 C T intronic CCDC125 NA NA NA intronic ENSG00000183323 NA NA NA NA NA 5q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952418 NA NA NA NA NA NA NA 5 1152 5 74656082 74656082 T C intronic HMGCR NA NA NA intronic ENSG00000113161 NA NA NA NA NA 5q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131991 NA NA NA NA NA NA NA 5 1152 5 76357668 76357668 A G intronic AGGF1 NA NA NA intronic ENSG00000164252 NA NA NA NA NA 5q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006085 NA NA NA NA NA NA NA 5 1152 5 98870188 98870188 A G intergenic LOC100289230,LOC100133050 dist=603475;dist=845021 NA NA ncRNA_exonic ENSG00000227762 NA NA NA Score=692;Name=lod=869 NA 5q21.1 NA NA NA NA rs62375026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190365 NA NA NA NA NA NA NA 5 1152 5 110284619 110284619 C T intergenic SLC25A46,TSLP dist=186135;dist=122771 NA NA ncRNA_exonic ENSG00000248966 NA NA NA Score=512;Name=lod=160 NA 5q22.1 NA NA NA NA rs73787829 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338837 NA NA NA NA NA 0.319 NA 5 1152 5 110284652 110284652 A G intergenic SLC25A46,TSLP dist=186168;dist=122738 NA NA ncRNA_exonic ENSG00000248966 NA NA NA Score=512;Name=lod=160 NA 5q22.1 NA NA NA NA rs73787831 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087126 NA NA NA NA NA 0.174 NA 5 1152 5 110284665 110284665 A G intergenic SLC25A46,TSLP dist=186181;dist=122725 NA NA ncRNA_exonic ENSG00000248966 NA NA NA Score=512;Name=lod=160 NA 5q22.1 NA NA NA NA rs79180940 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155328 NA NA NA NA NA 0.167 NA 5 1152 5 110285508 110285508 T C intergenic SLC25A46,TSLP dist=187024;dist=121882 NA NA ncRNA_exonic ENSG00000248966 NA NA NA Score=596;Name=lod=351 NA 5q22.1 NA NA NA NA rs76961056 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.003625 NA NA NA NA NA NA NA 5 1152 5 126507434 126507434 A C intergenic C5orf63,MEGF10 dist=98250;dist=119022 NA NA ncRNA_exonic ENSG00000250080 NA NA NA Score=762;Name=lod=1663 NA 5q23.2 NA NA NA NA rs248079 0.42 0.42 0.421 NA NA NA NA NA NA 0.5 0.34 0.44 0.39 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18208 NA NA NA NA NA 0.362 NA 5 1152 5 137735798 137735798 C T intronic KDM3B NA NA NA intronic ENSG00000120733 NA NA NA NA NA 5q31.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163337 NA NA NA NA NA NA NA 5 1152 5 141034123 141034123 T A intronic ARAP3 NA NA NA intronic ENSG00000120318 NA NA NA NA NA 5q31.3 NA NA Name=78 NA rs6580194 0.6 0.6 0.603 NA NA NA NA NA NA 0.63 0.33 0.7 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563135 NA NA NA NA NA 0.543 NA 5 1152 5 141304318 141304318 T G intronic KIAA0141 NA NA NA intronic ENSG00000081791 NA NA NA NA NA 5q31.3 NA Name=Pol2 NA NA rs10058907 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575912 NA NA NA NA NA 0.043 NA 5 1152 5 144608394 144608394 A T intergenic KCTD16,PRELID2 dist=751450;dist=530188 NA NA ncRNA_exonic ENSG00000215325,ENSG00000251031 NA NA NA Score=580;Name=lod=303 NA 5q32 NA NA NA NA rs68123897 0.17 0.17 0.143 NA NA NA NA NA NA 0.3 0.04 0.22 0.07 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019595 NA 0.01 NA NA NA 0.217 NA 5 1152 5 180041274 180041274 T G intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146999 NA NA NA NA NA NA NA 5 1152 6 599264 599264 G T intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158192 NA NA NA NA NA NA NA 5 1152 6 29912754 29912754 G A intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs3823323 0.47 0.47 0.444 NA NA NA NA NA NA 0.5 0.42 0.48 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.07856 3.07856 NA NA NA NA 0.203 NA 5 1152 6 29913111 29913111 A G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs3823343 0.19 0.19 0.187 NA NA NA NA NA NA 0.15 0.18 0.18 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290865 NA NA NA NA NA 0.087 NA 5 1152 6 31248993 31248993 C T intergenic HLA-C,HLA-B dist=9080;dist=72656 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs112107897 0.15 0.15 NA NA NA NA NA NA NA 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.234372 1.234372 NA NA NA NA 0.116 NA 5 1152 6 57467279 57467279 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA Name=40 NA rs6459263 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39929 NA NA NA NA NA 0.239 NA 5 1152 6 57467282 57467282 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA Name=40 NA rs6459264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165655 NA NA NA NA NA 0.239 NA 5 1152 6 57467303 57467303 A G intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA Name=40 NA rs1022846 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463835 NA NA NA NA NA 0.928 NA 5 1152 6 57472255 57472255 C T intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA Score=559;Name=lod=250 NA 6p11.2 NA NA NA NA rs9296900 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.759326 2.759326 NA NA NA NA 0.5 NA 5 1152 6 57472299 57472299 A G intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA Score=304;Name=lod=23 NA 6p11.2 NA NA NA NA rs9396358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.315165 3.315165 NA NA NA NA 0.5 NA 5 1152 6 57472495 57472495 C G intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA Name=12 NA rs62400219 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396715 NA NA NA NA NA 0.007 NA 5 1152 6 57472533 57472533 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA Name=12 NA rs9367767 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.358758 1.358758 NA NA NA NA 0.232 NA 5 1152 6 116774259 116774259 C T intergenic DSE,FAM26F dist=14817;dist=8274 NA NA ncRNA_exonic ENSG00000217241 NA NA NA Score=343;Name=lod=33 NA 6q22.1 NA NA NA NA rs62425221 NA NA 0.154 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665271 NA NA NA NA NA 0.283 NA 5 1152 6 116774264 116774264 T C intergenic DSE,FAM26F dist=14822;dist=8269 NA NA ncRNA_exonic ENSG00000217241 NA NA NA Score=343;Name=lod=33 NA 6q22.1 NA NA NA NA rs62425222 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856298 NA NA NA NA NA 0.29 NA 5 1152 6 116774406 116774406 G C intergenic DSE,FAM26F dist=14964;dist=8127 NA NA ncRNA_exonic ENSG00000217241 NA NA NA Score=558;Name=lod=246 NA 6q22.1 NA NA NA NA rs62425224 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.635962 NA NA NA NA NA 0.014 NA 5 1152 6 132649738 132649738 A G intronic MOXD1 NA NA NA intronic ENSG00000079931 NA NA NA NA NA 6q23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296245 NA NA NA NA NA NA NA 5 1152 6 168947643 168947643 C G intronic SMOC2 NA NA NA intronic ENSG00000112562 NA NA NA NA NA 6q27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934783 NA NA NA NA NA NA NA 5 1152 7 896098 896098 G A intronic SUN1 NA NA NA intronic ENSG00000164828 NA NA NA NA NA 7p22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070285 NA NA NA NA NA NA NA 5 1152 7 30094993 30094993 G A intronic PLEKHA8 NA NA NA intronic ENSG00000106086 NA NA NA NA NA 7p14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.806922 NA NA NA NA NA NA NA 5 1152 7 45015002 45015002 G A intronic MYO1G NA NA NA intronic ENSG00000136286 NA NA NA NA NA 7p13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.715669 NA NA NA NA NA NA NA 5 1152 7 65238611 65238611 A G intergenic LOC441242,VKORC1L1 dist=2814;dist=99646 NA NA ncRNA_exonic ENSG00000224316 NA NA NA Score=243;Name=lod=13 NA 7q11.21 NA NA NA NA rs56236248 NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195989 NA NA NA NA NA NA NA 5 1152 7 65253072 65253072 C G intergenic LOC441242,VKORC1L1 dist=17275;dist=85185 NA NA ncRNA_exonic ENSG00000224316 NA NA NA Score=504;Name=lod=149 NA 7q11.21 NA NA NA NA rs4718280 0.35 0.35 0.304 NA NA NA NA NA NA 0.4 0.49 0.31 0.13 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553646 NA NA NA NA NA 0.254 NA 5 1152 7 87400135 87400135 T C intronic RUNDC3B NA NA NA intronic ENSG00000105784 NA NA NA NA NA 7q21.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432159 NA NA NA NA NA NA NA 5 1152 7 100608662 100608662 A G intergenic ACHE,MUC12 dist=115121;dist=4242 NA NA ncRNA_exonic ENSG00000225946 NA NA NA NA NA 7q22.1 NA Name=CTCF,Rad21 NA NA rs74929976 0.12 0.12 0.098 0.000199681 NA NA NA 0.0008 NA 0.13 NA 0.1 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133137 NA NA NA NA NA 0.014 NA 5 1152 7 142460187 142460187 T A intronic PRSS1 NA NA NA intronic ENSG00000204983 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625564 NA NA NA NA NA NA NA 5 1152 7 142460226 142460226 C T intronic PRSS1 NA NA NA intronic ENSG00000204983 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036179 NA NA NA NA NA NA NA 5 1152 7 143815957 143815957 T A intergenic OR2A2,OR2A14 dist=8325;dist=10249 NA NA ncRNA_exonic ENSG00000239981 NA NA NA Score=358;Name=lod=38 NA 7q35 NA NA NA NA rs77733382 NA NA 0.188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390064 1.390064 NA NA NA NA NA NA 5 1152 7 157413781 157413781 G T intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA Name=9 NA rs12672418 0.26 0.26 0.292 NA NA NA NA NA NA 0.35 0.24 0.23 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917283 NA NA NA NA NA 0.261 NA 5 1152 7 158066602 158066602 G A intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA Name=3 NA rs113375346 0.07 0.07 0.047 NA NA NA NA NA NA 0.14 0.0017 0.06 0.05 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158098 NA NA NA NA NA 0.014 NA 5 1152 8 6756714 6756714 T C intergenic DEFB1,DEFA6 dist=21185;dist=25502 NA NA ncRNA_exonic ENSG00000250752 NA NA NA NA NA 8p23.1 NA Name=CTCF NA NA rs13255674 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010968 NA NA NA NA NA 0.348 NA 5 1152 8 6756763 6756763 A C intergenic DEFB1,DEFA6 dist=21234;dist=25453 NA NA ncRNA_exonic ENSG00000250752 NA NA NA NA NA 8p23.1 NA Name=CTCF NA NA rs9693852 0.45 0.45 0.636 NA NA NA NA NA NA 0.57 0.51 0.45 0.18 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027002 NA NA NA NA NA NA NA 5 1152 8 7276746 7276746 G C intergenic DEFB4B,DEFB103B dist=2392;dist=9670 NA NA ncRNA_exonic ENSG00000255128 NA NA NA Score=840;Name=lod=3441 NA 8p23.1 NA NA NA NA rs2737536 NA NA 0.203 NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11291 NA NA NA NA NA 0.116 NA 5 1152 8 15800891 15800891 A C intergenic TUSC3,MSR1 dist=176733;dist=164496 NA NA ncRNA_exonic ENSG00000226836 NA NA NA Score=697;Name=lod=903 NA 8p22 NA NA NA NA rs112527634 0.03 0.03 0.037 0.0365415 NA NA 0.0072 0.1339 0.001 NA NA 0.0028 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020023 NA 0.01 NA NA NA 0.022 NA 5 1152 8 25225778 25225778 G A intronic DOCK5 NA NA NA intronic ENSG00000147459 NA NA NA NA NA 8p21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34702 NA NA NA NA NA NA NA 5 1152 8 27287772 27287772 T C intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65227 NA NA NA NA NA NA NA 5 1152 8 30207664 30207664 G T intergenic MIR548O2,LOC100128750 dist=99451;dist=31971 NA NA ncRNA_exonic ENSG00000254152 NA NA NA Score=691;Name=lod=855 NA 8p12 NA NA NA NA rs199588989 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049381 NA NA NA NA NA NA NA 5 1152 8 76476050 76476050 C T intronic HNF4G NA NA NA intronic ENSG00000164749 NA NA NA NA NA 8q21.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559391 NA NA NA NA NA NA NA 5 1152 8 100454614 100454614 G T intronic VPS13B NA NA NA intronic ENSG00000132549 NA NA NA NA NA 8q22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.753906 1.753906 NA NA NA NA NA NA 5 1152 9 30689848 30689848 C A intergenic LOC401497,ACO1 dist=281396;dist=1694753 NA NA ncRNA_exonic ENSG00000215210 NA NA NA Score=776;Name=lod=1901 NA 9p21.1 NA NA NA NA rs80282850 NA NA 0.094 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158208 NA NA NA NA NA 0.051 NA 5 1152 9 43400251 43400251 T C intergenic LOC642929,SPATA31A6 dist=254767;dist=224251 NA NA ncRNA_exonic ENSG00000229489 NA NA NA Score=856;Name=lod=4027 NA 9p12 NA NA NA NA rs4961789 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.649979 1.649979 NA NA NA NA NA NA 5 1152 9 43400841 43400841 A T intergenic LOC642929,SPATA31A6 dist=255357;dist=223661 NA NA ncRNA_exonic ENSG00000229489 NA NA NA Score=856;Name=lod=4027 NA 9p12 NA NA NA NA rs12003334 NA NA 0.279 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.85192 1.85192 NA NA NA NA 0.022 NA 5 1152 9 66514338 66514338 G A intergenic PTGER4P2-CDK2AP2P2,LOC286297 dist=11308;dist=503037 NA NA ncRNA_intronic ENSG00000234665 NA NA NA Score=645;Name=lod=555 NA 9q13 NA NA NA NA rs4244748 NA NA 0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836107 NA NA NA NA NA 0.007 NA 5 1152 9 66517198 66517198 C A intergenic PTGER4P2-CDK2AP2P2,LOC286297 dist=14168;dist=500177 NA NA ncRNA_exonic ENSG00000227582 NA NA NA Score=523;Name=lod=178 NA 9q13 NA NA NA NA rs10796698 NA NA 0.396 NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032333 NA NA NA NA ID=COSN168555;OCCURENCE=1(large_intestine) 0.188 NA 5 1152 9 68357318 68357318 C G intergenic ANKRD20A3,LOC642236 dist=387025;dist=70465 NA NA ncRNA_exonic ENSG00000228656 NA NA NA Score=648;Name=lod=573 NA 9q13 NA NA NA NA rs3124520 NA NA 0.436 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204558 NA NA NA NA NA NA NA 5 1152 9 68414063 68414063 T C intergenic ANKRD20A3,LOC642236 dist=443770;dist=13720 NA NA ncRNA_exonic ENSG00000232815 NA NA NA NA NA 9q13 NA NA Name=129 NA rs74734751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130301 NA NA NA NA NA 0.42 NA 5 1152 9 68414094 68414094 A G intergenic ANKRD20A3,LOC642236 dist=443801;dist=13689 NA NA ncRNA_exonic ENSG00000232815 NA NA NA NA NA 9q13 NA NA Name=129 NA rs74754654 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257419 NA NA NA NA NA 0.696 NA 5 1152 9 69634630 69634630 A T intergenic ANKRD20A4,LOC100133920 dist=209521;dist=16731 NA NA ncRNA_exonic ENSG00000181997 NA NA NA Score=539;Name=lod=207 NA 9q21.11 NA NA NA NA rs62551038 NA NA 0.275 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448561 NA NA NA NA NA NA NA 5 1152 9 138829940 138829940 C A intronic UBAC1 NA NA NA intronic ENSG00000130560 NA NA NA NA NA 9q34.3 NA NA NA NA NA NA NA NA 0.00139776 NA NA 0.0101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666802 NA NA NA NA NA NA NA 5 1152 9 140610972 140610972 G A intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA NA NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697681 NA NA NA NA NA NA NA 5 1152 10 5324820 5324820 G A intergenic AKR1C4,UCN3 dist=63910;dist=82156 NA NA ncRNA_exonic ENSG00000215267 NA NA NA Score=462;Name=lod=101 NA 10p15.1 NA NA NA NA rs77540548 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692023 NA NA NA NA NA NA NA 5 1152 10 5324827 5324827 T C intergenic AKR1C4,UCN3 dist=63917;dist=82149 NA NA ncRNA_exonic ENSG00000215267 NA NA NA Score=462;Name=lod=101 NA 10p15.1 NA NA NA NA rs76090403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229001 NA NA NA NA NA NA NA 5 1152 10 8556787 8556787 G T intergenic GATA3,NONE dist=439623;dist=NONE NA NA ncRNA_exonic ENSG00000213771 NA NA NA Score=743;Name=lod=1398 NA 10p14 NA NA NA NA rs61829475 0.35 0.35 0.339 NA NA NA NA NA NA 0.34 0.36 0.35 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465059 NA NA NA NA NA 0.232 NA 5 1152 10 13199655 13199655 T G intergenic OPTN,MCM10 dist=19379;dist=3899 NA NA ncRNA_exonic ENSG00000203414 NA NA NA Score=793;Name=lod=2221 NA 10p13 NA NA NA NA rs12356984 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141545 NA NA NA NA NA 0.594 NA 5 1152 10 27415727 27415727 C G intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.652695 1.652695 NA NA NA NA NA NA 5 1152 10 38301222 38301222 T C intronic ZNF33A NA NA NA intronic ENSG00000189180 NA NA NA NA NA 10p11.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693541 NA NA NA NA NA NA NA 5 1152 10 38897479 38897479 C T intergenic LOC399744,ACTR3BP5 dist=156398;dist=92248 NA NA ncRNA_intronic ENSG00000215151 NA NA NA Score=660;Name=lod=641 NA 10p11.1 NA NA NA NA rs80166822 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475113 NA NA NA NA NA NA NA 5 1152 10 38897539 38897539 T C intergenic LOC399744,ACTR3BP5 dist=156458;dist=92188 NA NA ncRNA_exonic ENSG00000215151 NA NA NA Score=660;Name=lod=641 NA 10p11.1 NA NA NA NA rs76966281 NA NA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207558 NA NA NA NA NA NA NA 5 1152 10 38897541 38897541 G A intergenic LOC399744,ACTR3BP5 dist=156460;dist=92186 NA NA ncRNA_exonic ENSG00000215151 NA NA NA Score=660;Name=lod=641 NA 10p11.1 NA NA NA NA rs79482073 NA NA 0.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069986 NA NA NA NA NA NA NA 5 1152 10 38897584 38897584 G A intergenic LOC399744,ACTR3BP5 dist=156503;dist=92143 NA NA ncRNA_exonic ENSG00000215151 NA NA NA Score=660;Name=lod=641 NA 10p11.1 NA NA NA NA rs61841293 NA NA 0.618 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06749 NA NA NA NA NA NA NA 5 1152 10 38897601 38897601 G A intergenic LOC399744,ACTR3BP5 dist=156520;dist=92126 NA NA ncRNA_exonic ENSG00000215151 NA NA NA Score=660;Name=lod=641 NA 10p11.1 NA NA NA NA rs61841294 NA NA 0.632 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140752 NA NA NA NA NA NA NA 5 1152 10 38978124 38978124 A C intergenic LOC399744,ACTR3BP5 dist=237043;dist=11603 NA NA ncRNA_intronic ENSG00000233867 NA NA NA Score=265;Name=lod=16 NA 10p11.1 NA NA NA NA rs78243982 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147287 NA NA NA NA NA NA NA 5 1152 10 43318441 43318441 T A intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221967 NA NA NA NA NA NA NA 5 1152 10 95140933 95140933 C G intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669058 NA NA NA NA NA NA NA 5 1152 10 98709129 98709129 G A intronic LCOR NA NA NA intronic ENSG00000196233 NA NA NA NA NA 10q24.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.621467 NA NA NA NA NA NA NA 5 1152 10 104595306 104595306 C A intronic CYP17A1 NA NA NA intronic ENSG00000148795 NA NA NA NA NA 10q24.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550073 NA NA NA NA NA NA NA 5 1152 11 8751347 8751347 C T intronic ST5 NA NA NA intronic ENSG00000166444 NA NA NA NA NA 11p15.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856144 NA NA NA NA NA NA NA 5 1152 11 27828248 27828248 T A intergenic BDNF,KIF18A dist=84643;dist=213915 NA NA ncRNA_exonic ENSG00000177447 NA NA NA Score=616;Name=lod=427 NA 11p14.1 NA NA NA NA rs78474033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408701 NA NA NA NA NA NA NA 5 1152 11 55900296 55900296 G T intergenic OR8H3,OR8J3 dist=9509;dist=3951 NA NA ncRNA_exonic ENSG00000254848 NA NA NA NA NA 11q12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.921158 NA NA NA NA NA NA NA 5 1152 11 67799457 67799457 C T intronic NDUFS8 NA NA NA intronic ENSG00000110717 NA NA NA NA NA 11q13.2 NA NA NA NA NA NA NA NA 0.000998403 NA NA NA NA 0.0051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109765 NA NA NA NA NA NA NA 5 1152 11 70274961 70274961 G A intronic CTTN NA NA NA intronic ENSG00000085733 NA NA NA NA NA 11q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941307 NA NA NA NA NA NA NA 5 1152 11 101637201 101637201 C T intergenic TRPC6,ANGPTL5 dist=182542;dist=124204 NA NA ncRNA_exonic ENSG00000254534 NA NA NA NA NA 11q22.1 NA NA NA NA NA NA NA NA 0.000399361 NA NA NA 0.0015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687134 NA NA NA NA NA NA NA 5 1152 11 117095280 117095280 C T intronic PCSK7 NA NA NA intronic ENSG00000160613 NA NA NA NA NA 11q23.3 NA Name=GATA2_(CG2-96),USF-1,STAT2,eGFP-GATA2,TAL1_(SC-12984),Pol2(b),eGFP-JunD,Pol2,GABP,p300_(F-4),GATA-1,TAF1,ETS1 NA NA rs148066123 0.01 0.01 0.001 0.00239617 NA NA 0.0043 0.0068 NA NA NA 0.01 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224173 NA NA NA NA NA 0.007 NA 5 1152 12 9001645 9001645 G A intronic A2ML1 NA NA NA intronic ENSG00000166535 NA NA NA NA NA 12p13.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809639 NA NA NA NA NA NA NA 5 1152 12 25956258 25956258 C T intergenic IFLTD1,MIR4302 dist=154762;dist=70695 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=289;Name=lod=20 NA 12p12.1 NA NA NA NA rs11048254 NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166355 NA NA NA NA NA 0.413 NA 5 1152 12 25956542 25956542 C A intergenic IFLTD1,MIR4302 dist=155046;dist=70411 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs12308570 NA NA 0.222 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265137 NA NA NA NA NA 0.464 NA 5 1152 12 25956656 25956656 T A intergenic IFLTD1,MIR4302 dist=155160;dist=70297 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs56393669 NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202557 NA NA NA NA NA 0.486 NA 5 1152 12 25956888 25956888 T C intergenic IFLTD1,MIR4302 dist=155392;dist=70065 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs3964194 NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127644 NA NA NA NA NA 0.478 NA 5 1152 12 25956962 25956962 T A intergenic IFLTD1,MIR4302 dist=155466;dist=69991 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs3741543 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082142 NA NA NA NA NA 0.442 NA 5 1152 12 25957040 25957040 G A intergenic IFLTD1,MIR4302 dist=155544;dist=69913 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs73082398 NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252024 NA NA NA NA NA 0.043 NA 5 1152 12 25957056 25957056 A T intergenic IFLTD1,MIR4302 dist=155560;dist=69897 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs75596968 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084709 NA NA NA NA NA 0.043 NA 5 1152 12 25957073 25957073 G A intergenic IFLTD1,MIR4302 dist=155577;dist=69880 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs80312392 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29043 NA NA NA NA NA 0.029 NA 5 1152 12 25957129 25957129 G A intergenic IFLTD1,MIR4302 dist=155633;dist=69824 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=746;Name=lod=1438 NA 12p12.1 NA NA NA NA rs76905446 NA NA 0.115 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000916 NA NA NA NA NA 0.457 NA 5 1152 12 25957196 25957196 A G intergenic IFLTD1,MIR4302 dist=155700;dist=69757 NA NA ncRNA_exonic ENSG00000255725 NA NA NA Score=557;Name=lod=245 NA 12p12.1 NA NA NA NA rs74070838 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208897 NA NA NA NA NA 0.493 NA 5 1152 12 25957329 25957329 C G intergenic IFLTD1,MIR4302 dist=155833;dist=69624 NA NA ncRNA_exonic ENSG00000255725 NA NA NA NA NA 12p12.1 NA NA Name=35 NA rs73285040 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857707 NA NA NA NA NA 0.065 NA 5 1152 12 25957350 25957350 A G intergenic IFLTD1,MIR4302 dist=155854;dist=69603 NA NA ncRNA_exonic ENSG00000255725 NA NA NA NA NA 12p12.1 NA NA Name=35 NA rs78631208 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313025 NA NA NA NA NA 0.058 NA 5 1152 12 54423391 54423391 G A intronic HOXC4,HOXC6 NA NA NA intronic ENSG00000197757,ENSG00000198353 NA NA NA NA NA 12q13.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.767822 1.767822 NA NA NA NA NA NA 5 1152 12 54911451 54911451 C T intronic NCKAP1L NA NA NA intronic ENSG00000123338 NA NA NA NA NA 12q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.511308 2.511308 NA NA NA NA NA NA 5 1152 12 55026930 55026930 C G intronic LACRT NA NA NA intronic ENSG00000135413 NA NA NA NA NA 12q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.15253 NA NA NA NA NA NA NA 5 1152 12 55807293 55807293 A G intergenic OR6C65,OR6C76 dist=12042;dist=12745 NA NA ncRNA_exonic ENSG00000179899 NA NA NA Score=472;Name=lod=111 NA 12q13.2 NA NA NA NA rs3887805 NA NA 0.86 NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112265 NA 1 NA NA NA 0.449 NA 5 1152 12 58201044 58201044 A G intronic AVIL NA NA NA intronic ENSG00000123297,ENSG00000135407 NA NA NA NA NA 12q14.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01092 NA NA NA NA NA NA NA 5 1152 12 120568611 120568611 C T intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA NA NA NA NA 0.00499201 NA NA NA NA 0.0256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.287895 2.287895 NA NA NA NA NA NA 5 1152 13 36532154 36532154 T C intronic DCLK1 NA NA NA intronic ENSG00000133083 NA NA NA NA NA 13q13.3 NA Name=SUZ12,TR4 NA NA rs202088329 NA NA 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408683 NA NA NA NA NA NA NA 5 1152 14 19806874 19806874 A T intergenic LINC00516,LINC00516 dist=125858;dist=87495 NA NA ncRNA_exonic ENSG00000196143 NA NA NA Score=309;Name=lod=24 NA 14q11.2 NA NA NA NA rs146461426 0.03 0.03 0.019 NA NA NA NA NA NA 0.06 NA 0.03 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449175 NA NA NA NA NA NA NA 5 1152 14 20085023 20085023 C A intergenic POTEM,OR11H2 dist=64751;dist=96040 NA NA ncRNA_exonic ENSG00000258027 NA NA NA Score=637;Name=lod=517 NA 14q11.2 NA NA NA NA rs61977220 NA NA 0.725 NA NA NA NA NA NA NA NA NA NA NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.819751 NA NA NA NA NA 0.616 NA 5 1152 14 20097348 20097348 C T intergenic POTEM,OR11H2 dist=77076;dist=83715 NA NA ncRNA_exonic ENSG00000257432 NA NA NA Score=754;Name=lod=1548 NA 14q11.2 NA NA NA NA rs202060555 NA NA 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236995 NA NA NA NA NA NA NA 5 1152 14 20097349 20097349 A G intergenic POTEM,OR11H2 dist=77077;dist=83714 NA NA ncRNA_exonic ENSG00000257432 NA NA NA Score=754;Name=lod=1548 NA 14q11.2 NA NA NA NA rs3000536 NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14134 NA NA NA NA NA 0.043 NA 5 1152 14 20137564 20137564 G A intergenic POTEM,OR11H2 dist=117292;dist=43499 NA NA ncRNA_exonic ENSG00000257846 NA NA NA Score=761;Name=lod=1650 NA 14q11.2 NA NA NA NA rs4399480 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201765 NA NA NA NA NA 0.022 NA 5 1152 14 20137587 20137587 G A intergenic POTEM,OR11H2 dist=117315;dist=43476 NA NA ncRNA_exonic ENSG00000257846 NA NA NA Score=761;Name=lod=1650 NA 14q11.2 NA NA NA NA rs4399482 NA NA 0.168 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061701 NA NA NA NA NA 0.022 NA 5 1152 14 20137680 20137680 C A intergenic POTEM,OR11H2 dist=117408;dist=43383 NA NA ncRNA_exonic ENSG00000257846 NA NA NA Score=761;Name=lod=1650 NA 14q11.2 NA NA NA NA rs67154051 NA NA 0.137 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257931 NA NA NA NA NA 0.007 NA 5 1152 14 20137730 20137730 C G intergenic POTEM,OR11H2 dist=117458;dist=43333 NA NA ncRNA_exonic ENSG00000257846 NA NA NA Score=761;Name=lod=1650 NA 14q11.2 NA NA NA NA rs200112264 NA NA 0.118 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213303 NA NA NA NA NA NA NA 5 1152 14 22070146 22070146 C T intergenic OR10G3,OR10G2 dist=31271;dist=31920 NA NA ncRNA_exonic ENSG00000169202 NA NA NA Score=343;Name=lod=33 NA 14q11.2 NA NA NA NA rs10134340 0.34 0.34 0.331 NA NA NA NA NA NA 0.39 0.39 0.3 0.24 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017526 NA NA NA NA NA 0.174 NA 5 1152 14 22070509 22070509 G A intergenic OR10G3,OR10G2 dist=31634;dist=31557 NA NA ncRNA_exonic ENSG00000169202 NA NA NA Score=423;Name=lod=70 NA 14q11.2 NA NA NA NA rs11157069 0.4 0.4 0.38 NA NA NA NA NA NA 0.46 0.39 0.48 0.27 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396737 NA NA NA NA NA 0.304 NA 5 1152 14 57511484 57511484 T C intergenic OTX2-AS1,EXOC5 dist=113934;dist=157710 NA NA ncRNA_exonic ENSG00000259136 NA NA NA NA NA 14q22.3 NA NA Name=2 NA rs28675893 0.34 0.34 0.267 NA NA NA NA NA NA 0.39 0.33 0.47 0.19 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04297 NA NA NA NA NA 0.319 NA 5 1152 14 60749314 60749314 A T intronic PPM1A NA NA NA intronic ENSG00000100614 NA NA NA NA NA 14q23.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.515562 NA NA NA NA NA NA NA 5 1152 14 99723614 99723614 C T intronic BCL11B NA NA NA intronic ENSG00000127152 NA NA NA NA NA 14q32.2 NA NA NA NA NA NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383136 NA NA NA NA NA NA NA 5 1152 14 101011324 101011324 G C intronic BEGAIN NA NA NA intronic ENSG00000183092 NA NA NA NA NA 14q32.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683759 NA NA NA NA NA NA NA 5 1152 14 105421745 105421745 C T intronic AHNAK2 NA NA NA intronic ENSG00000185567 NA NA NA NA NA 14q32.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039685 NA NA NA NA NA NA NA 5 1152 14 106881425 106881425 A G intergenic LINC00226,LINC00221 dist=136459;dist=57030 NA NA ncRNA_exonic ENSG00000253467 NA NA NA Score=417;Name=lod=66 NA 14q32.33 NA NA NA NA rs73368479 NA NA 0.249 NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44585 NA NA NA NA NA 0.225 NA 5 1152 14 106919210 106919210 C T intergenic LINC00226,LINC00221 dist=174244;dist=19245 NA NA ncRNA_exonic ENSG00000254228 NA NA NA Score=436;Name=lod=79 NA 14q32.33 NA NA NA NA rs76244773 0.27 0.27 0.255 NA NA NA NA NA NA 0.27 0.16 0.21 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184858 NA NA NA NA NA 0.254 NA 5 1152 14 106919228 106919228 C T intergenic LINC00226,LINC00221 dist=174262;dist=19227 NA NA ncRNA_exonic ENSG00000254228 NA NA NA Score=278;Name=lod=18 NA 14q32.33 NA NA NA NA rs76359316 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349391 NA NA NA NA NA 0.268 NA 5 1152 14 106919234 106919234 G T intergenic LINC00226,LINC00221 dist=174268;dist=19221 NA NA ncRNA_exonic ENSG00000254228 NA NA NA Score=278;Name=lod=18 NA 14q32.33 NA NA NA NA rs77084641 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23979 NA NA NA NA NA 0.268 NA 5 1152 14 106919405 106919405 T C intergenic LINC00226,LINC00221 dist=174439;dist=19050 NA NA ncRNA_exonic ENSG00000254228 NA NA NA Score=300;Name=lod=22 NA 14q32.33 NA NA NA NA rs74093718 0.28 0.28 0.24 NA NA NA NA NA NA 0.28 0.17 0.21 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792111 NA NA NA NA NA 0.123 NA 5 1152 14 106919463 106919463 A C intergenic LINC00226,LINC00221 dist=174497;dist=18992 NA NA ncRNA_exonic ENSG00000254228 NA NA NA Score=325;Name=lod=28 NA 14q32.33 NA NA NA NA rs11628768 0.27 0.27 0.262 NA NA NA NA NA NA 0.28 0.17 0.22 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31508 NA NA NA NA NA 0.029 NA 5 1152 14 107062209 107062209 G T intergenic LINC00221,NONE dist=110680;dist=NONE NA NA ncRNA_exonic ENSG00000254395 NA NA NA NA NA 14q32.33 NA Name=CTCF NA NA rs1778 0.34 0.34 0.293 NA NA NA NA NA NA 0.22 0.49 0.31 0.38 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464805 NA NA NA NA NA 0.29 NA 5 1152 14 107087285 107087285 A G intergenic LINC00221,NONE dist=135756;dist=NONE NA NA ncRNA_exonic ENSG00000253742 NA NA NA Score=431;Name=lod=75 NA 14q32.33 NA NA NA NA rs61995829 NA NA 0.188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473978 NA NA NA NA NA NA NA 5 1152 14 107087299 107087299 A G intergenic LINC00221,NONE dist=135770;dist=NONE NA NA ncRNA_exonic ENSG00000253742 NA NA NA Score=431;Name=lod=75 NA 14q32.33 NA NA NA NA rs61995830 NA NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.567667 NA NA NA NA NA NA NA 5 1152 14 107087376 107087376 G A intergenic LINC00221,NONE dist=135847;dist=NONE NA NA ncRNA_exonic ENSG00000253742 NA NA NA Score=440;Name=lod=82 NA 14q32.33 NA NA NA NA rs200283350 NA NA 0.255 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56595 NA NA NA NA NA 0.007 NA 5 1152 14 107099216 107099216 G A intergenic LINC00221,NONE dist=147687;dist=NONE NA NA ncRNA_exonic ENSG00000253132 NA NA NA Score=358;Name=lod=38 NA 14q32.33 NA NA NA NA rs2904630 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113718 NA NA NA NA NA 0.036 NA 5 1152 15 20084176 20084176 C T intergenic NONE,CHEK2P2 dist=NONE;dist=403821 NA NA ncRNA_exonic ENSG00000215567 NA NA NA Score=432;Name=lod=76 NA 15q11.1 NA NA NA NA rs7496199 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025281 NA NA NA NA NA 0.29 NA 5 1152 15 20172750 20172750 A G intergenic NONE,CHEK2P2 dist=NONE;dist=315247 NA NA ncRNA_exonic ENSG00000258706 NA NA NA Score=674;Name=lod=733 NA 15q11.1 NA NA NA NA rs76520064 NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42491 NA NA NA NA NA 0.007 NA 5 1152 15 20172769 20172769 A G intergenic NONE,CHEK2P2 dist=NONE;dist=315228 NA NA ncRNA_exonic ENSG00000258706 NA NA NA Score=674;Name=lod=733 NA 15q11.1 NA NA NA NA rs75811638 NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.402773 NA NA NA NA NA 0.007 NA 5 1152 15 20173124 20173124 A T intergenic NONE,CHEK2P2 dist=NONE;dist=314873 NA NA ncRNA_exonic ENSG00000258706 NA NA NA Score=580;Name=lod=304 NA 15q11.1 NA NA NA NA rs75992767 NA NA 0.207 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718273 NA NA NA NA NA NA NA 5 1152 15 20173160 20173160 A G intergenic NONE,CHEK2P2 dist=NONE;dist=314837 NA NA ncRNA_exonic ENSG00000258706 NA NA NA Score=580;Name=lod=304 NA 15q11.1 NA NA NA NA rs77822217 NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116813 NA NA NA NA NA 0.065 NA 5 1152 15 20173275 20173275 G A intergenic NONE,CHEK2P2 dist=NONE;dist=314722 NA NA ncRNA_exonic ENSG00000258706 NA NA NA Score=619;Name=lod=437 NA 15q11.1 NA NA NA NA rs73389318 NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229213 NA NA NA NA NA NA NA 5 1152 15 20462585 20462585 A G intergenic NONE,CHEK2P2 dist=NONE;dist=25412 NA NA ncRNA_exonic ENSG00000258628 NA NA NA Score=607;Name=lod=392 NA 15q11.1 NA NA NA NA rs3901622 NA NA 0.296 NA NA NA NA NA NA NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397114 NA 1 NA NA NA 0.377 NA 5 1152 15 20462613 20462613 G C intergenic NONE,CHEK2P2 dist=NONE;dist=25384 NA NA ncRNA_exonic ENSG00000258628 NA NA NA Score=607;Name=lod=392 NA 15q11.1 NA NA NA NA rs28374902 NA NA 0.128 NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240698 NA 0 NA NA NA 0.08 NA 5 1152 15 20481775 20481775 G C intergenic NONE,CHEK2P2 dist=NONE;dist=6222 NA NA ncRNA_intronic ENSG00000258628 NA NA NA NA NA 15q11.1 NA Name=STAT3,CEBPB NA NA rs2601541 NA NA 0.501 NA NA NA NA NA NA NA NA NA NA NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914873 NA NA NA NA NA 0.558 NA 5 1152 15 20555267 20555267 T G intergenic CHEK2P2,HERC2P3 dist=58456;dist=58383 NA NA ncRNA_intronic ENSG00000258654 NA NA NA NA NA 15q11.1 NA NA Name=6 NA rs1008718 NA NA 0.302 NA NA NA NA NA NA NA NA NA NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044536 NA NA NA NA NA 0.254 NA 5 1152 15 20555524 20555524 T C intergenic CHEK2P2,HERC2P3 dist=58713;dist=58126 NA NA ncRNA_intronic ENSG00000258654 NA NA NA NA NA 15q11.1 NA NA Name=2 NA rs8038853 NA NA 0.121 NA NA NA NA NA NA NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423536 NA NA NA NA NA 0.348 NA 5 1152 15 23182197 23182197 C T intergenic LOC283683,WHAMMP3 dist=66943;dist=5532 NA NA ncRNA_exonic ENSG00000259174 NA NA NA Score=656;Name=lod=616 NA 15q11.2 NA NA NA NA rs28561424 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056035 NA NA NA NA NA 0.138 NA 5 1152 15 28517240 28517240 A G intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA NA Name=6 NA rs79979051 NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217769 NA NA NA NA NA NA NA 5 1152 15 63014487 63014487 T G intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405814 NA NA NA NA NA NA NA 5 1152 16 20838562 20838562 T C intronic LOC81691 NA NA NA intronic ENSG00000005189,ENSG00000196678 NA NA NA NA NA 16p12.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.052076 2.052076 NA NA NA NA NA NA 5 1152 16 23721950 23721950 G A intronic ERN2 NA NA NA intronic ENSG00000134398 NA NA NA NA NA 16p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.998353 NA NA NA NA NA NA NA 5 1152 16 32077740 32077740 A G intergenic ZNF267,HERC2P4 dist=149111;dist=84869 NA NA ncRNA_intronic ENSG00000261727 NA NA NA NA NA 16p11.2 NA Name=CTCF_(C-20),Rad21,CTCF NA NA rs2215566 NA NA 0.349 NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585284 NA NA NA NA NA 0.036 NA 5 1152 16 32403532 32403532 T A intergenic LOC390705,TP53TG3 dist=102230;dist=281317 NA NA ncRNA_exonic ENSG00000260866 NA NA NA Score=259;Name=lod=15 NA 16p11.2 NA NA NA NA rs75037542 NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420681 NA NA NA NA NA NA NA 5 1152 16 32437093 32437093 A G intergenic LOC390705,TP53TG3 dist=135791;dist=247756 NA NA ncRNA_intronic ENSG00000260866 NA NA NA Score=243;Name=lod=13 NA 16p11.2 NA NA NA NA rs2456358 NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161779 NA NA NA NA NA 0.029 NA 5 1152 16 32486499 32486499 A G intergenic LOC390705,TP53TG3 dist=185197;dist=198350 NA NA ncRNA_exonic ENSG00000261233 NA NA NA Score=659;Name=lod=638 NA 16p11.2 NA NA NA NA rs228788 0.45 0.45 0.57 NA NA NA NA NA NA 0.45 0.42 0.44 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217769 NA 1 NA NA NA 0.341 NA 5 1152 16 32626855 32626855 A G intergenic LOC390705,TP53TG3 dist=325553;dist=57994 NA NA ncRNA_exonic ENSG00000259966 NA NA NA NA NA 16p11.2 NA Name=PU.1 NA NA rs28446891 NA NA 0.463 NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308305 NA NA NA NA NA 0.442 NA 5 1152 16 33365573 33365573 G C intergenic LOC390705,RNU6-76P dist=66871;dist=97934 NA NA ncRNA_exonic ENSG00000261405 NA NA NA Score=289;Name=lod=20 NA 16p11.2 NA NA NA NA rs80015540 NA NA 0.367 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19519 NA NA NA NA NA NA NA 5 1152 16 33401573 33401573 G A intergenic LOC390705,RNU6-76P dist=102871;dist=61934 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA Name=9 NA rs11490451 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744021 NA NA NA NA NA 0.007 NA 5 1152 16 33412844 33412844 A T intergenic LOC390705,RNU6-76P dist=114142;dist=50663 NA NA ncRNA_exonic ENSG00000259882 NA NA NA Score=369;Name=lod=42 NA 16p11.2 NA NA NA NA rs7403982 NA NA 0.631 NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167117 NA NA NA NA NA 0.449 NA 5 1152 16 33414188 33414188 A G intergenic LOC390705,RNU6-76P dist=115486;dist=49319 NA NA ncRNA_exonic ENSG00000259882 NA NA NA Score=336;Name=lod=31 NA 16p11.2 NA NA NA NA rs7196786 NA NA 0.606 NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416474 NA NA NA NA NA 0.326 NA 5 1152 16 33424787 33424787 C T intergenic LOC390705,RNU6-76P dist=126085;dist=38720 NA NA ncRNA_exonic ENSG00000259882 NA NA NA Score=609;Name=lod=398 NA 16p11.2 NA NA NA NA rs2632823 NA NA 0.44 NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478865 NA NA NA NA NA 0.123 NA 5 1152 16 33424917 33424917 A C intergenic LOC390705,RNU6-76P dist=126215;dist=38590 NA NA ncRNA_exonic ENSG00000259882 NA NA NA Score=609;Name=lod=398 NA 16p11.2 NA NA NA NA rs1906318 NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296212 NA NA NA NA NA 0.174 NA 5 1152 16 33424950 33424950 C T intergenic LOC390705,RNU6-76P dist=126248;dist=38557 NA NA ncRNA_exonic ENSG00000259882 NA NA NA NA NA 16p11.2 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs2927971 NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108467 NA NA NA NA NA 0.08 NA 5 1152 16 33941931 33941931 T A intergenic RNU6-76P,LINC00273 dist=378688;dist=19121 NA NA ncRNA_exonic ENSG00000260087 NA NA NA Score=637;Name=lod=518 NA 16p11.2 NA NA NA NA rs78963127 NA NA 0.267 NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023229 NA NA NA NA NA 0.225 NA 5 1152 16 33965456 33965456 T C intergenic LINC00273,UBE2MP1 dist=2953;dist=438346 NA NA ncRNA_exonic ENSG00000200434 NA NA NA Score=707;Name=lod=995 NA 16p11.2 NA NA NA NA rs79575365 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022116 NA NA NA NA NA 0.138 NA 5 1152 16 70531754 70531754 T G intronic COG4 NA NA NA intronic ENSG00000103051 NA NA NA NA NA 16q22.1 Score=812;Name=V$CDPCR3_01 NA NA NA rs2303791 0.66 0.66 0.683 NA NA NA NA NA NA 0.48 0.72 0.51 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009475 NA NA NA NA NA 0.717 NA 5 1152 16 89703542 89703542 G A intronic DPEP1 NA NA NA intronic ENSG00000015413 NA NA NA NA NA 16q24.3 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451865 1.451865 NA NA NA NA NA NA 5 1152 17 69631 69631 C T intronic RPH3AL NA NA NA intronic ENSG00000181031 NA NA NA NA NA 17p13.3 Score=907;Name=V$USF_Q6 NA NA NA rs62059561 0.24 0.24 0.239 NA NA NA NA NA NA 0.33 0.26 0.21 0.08 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138662 NA NA NA NA NA 0.362 NA 5 1152 17 15673727 15673727 C G intergenic CDRT15P2,MEIS3P1 dist=4724;dist=16437 NA NA ncRNA_exonic ENSG00000235430 NA NA NA Score=799;Name=lod=2355 NA 17p12 NA NA NA NA rs659945 NA NA 0.226 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127448 NA NA NA NA NA 0.014 NA 5 1152 17 15673779 15673779 T C intergenic CDRT15P2,MEIS3P1 dist=4776;dist=16385 NA NA ncRNA_exonic ENSG00000235430 NA NA NA Score=799;Name=lod=2355 NA 17p12 NA NA NA NA rs565772 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499169 NA NA NA NA NA 0.036 NA 5 1152 17 18541857 18541857 C G intronic TBC1D28 NA NA NA intronic ENSG00000189375 NA NA NA NA NA 17p11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903395 NA NA NA NA NA NA NA 5 1152 17 21202400 21202400 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA Score=265;Name=lod=16 NA 17p11.2 NA NA NA NA rs72831543 0.15 0.15 0.107 NA NA NA NA NA NA 0.16 0.17 0.12 0.12 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717503 NA NA NA NA NA 0.022 NA 5 1152 17 21207992 21207992 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs9893917 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500673 NA NA NA NA NA 0.362 NA 5 1152 17 21208187 21208187 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs7209543 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660432 NA NA NA NA NA 0.362 NA 5 1152 17 21208292 21208292 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs7214432 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370787 NA NA NA NA NA 0.399 NA 5 1152 17 21215682 21215682 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA Name=4 NA rs73302038 NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127355 NA NA NA NA NA 0.5 NA 5 1152 17 21217290 21217290 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA Name=5 NA rs1673837 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272378 NA NA NA NA NA 0.493 NA 5 1152 17 21544462 21544462 G A intergenic C17orf51,FAM27L dist=89521;dist=280908 NA NA ncRNA_exonic ENSG00000265019 NA NA NA Score=626;Name=lod=468 NA 17p11.2 NA NA NA NA rs9285742 NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.352833 NA 0.13 NA NA NA NA NA 5 1152 17 37571160 37571160 A T intronic MED1 NA NA NA intronic ENSG00000125686 NA NA NA NA NA 17q12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436865 NA NA NA NA NA NA NA 5 1152 17 45740341 45740341 T C intronic KPNB1 NA NA NA intronic ENSG00000108424 NA NA NA NA NA 17q21.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627776 NA NA NA NA NA NA NA 5 1152 17 58258107 58258107 G C intronic USP32 NA NA NA intronic ENSG00000170832 NA NA NA NA NA 17q23.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377762 NA NA NA NA NA NA NA 5 1152 17 76099729 76099729 T C intronic TNRC6C NA NA NA intronic ENSG00000078687 NA NA NA NA NA 17q25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578014 NA NA NA NA NA NA NA 5 1152 18 5433849 5433849 G A intronic EPB41L3 NA NA NA intronic ENSG00000082397 NA NA NA NA NA 18p11.31 NA NA NA NA NA NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405976 NA NA NA NA NA NA NA 5 1152 18 47022925 47022925 T A intergenic RPL17-C18orf32,LIPG dist=3990;dist=65502 NA NA ncRNA_exonic ENSG00000265182 NA NA NA Score=513;Name=lod=162 NA 18q21.1 NA NA NA NA rs9958322 0.01 0.01 NA 0.0195687 NA NA 0.0101 0.0688 NA NA NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088164 NA NA NA NA NA NA NA 5 1152 18 47109825 47109825 T C intronic LIPG NA NA NA intronic ENSG00000101670 NA NA NA NA NA 18q21.1 NA NA NA NA NA NA NA NA 0.000798722 NA NA NA 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.350136 1.350136 NA NA NA NA NA NA 5 1152 18 71822279 71822279 A T intronic TIMM21 NA NA NA intronic ENSG00000075336 NA NA NA NA NA 18q22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367625 NA NA NA NA NA NA NA 5 1152 19 3728504 3728504 G A intronic TJP3 NA NA NA intronic ENSG00000105289 NA NA NA NA NA 19p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360581 NA NA NA NA NA NA NA 5 1152 19 9020654 9020654 G A intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA NA NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100196 NA NA NA NA NA NA NA 5 1152 19 9020952 9020952 T C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA NA NA NA NA 0.00119808 NA NA NA 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358904 NA NA NA NA NA NA NA 5 1152 19 15473141 15473141 G T intronic AKAP8 NA NA NA intronic ENSG00000105127 NA NA NA NA NA 19p13.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65859 NA NA NA NA NA NA NA 5 1152 19 19414379 19414379 C A intronic SUGP1 NA NA NA intronic ENSG00000105705 NA NA NA NA NA 19p13.11 NA NA NA NA NA 0.01 0.01 NA NA NA NA NA NA NA 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184034 NA NA NA NA NA NA NA 5 1152 19 21751895 21751895 G A intergenic ZNF429,ZNF100 dist=30816;dist=154948 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA Name=Pol2 NA NA rs76475343 NA NA 0.245 0.000199681 NA 0.001 NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414078 NA NA NA NA NA 0.058 NA 5 1152 19 42838072 42838072 C T intronic MEGF8 NA NA NA intronic ENSG00000105429 NA NA NA NA NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031708 NA NA NA NA NA NA NA 5 1152 19 50665973 50665973 A C intronic IZUMO2 NA NA NA intronic ENSG00000161652 NA NA NA NA NA 19q13.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256451 NA NA NA NA NA NA NA 5 1152 19 52219428 52219428 T C intronic HAS1 NA NA NA intronic ENSG00000105509 NA NA NA NA NA 19q13.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.359183 2.359183 NA NA NA NA NA NA 5 1152 20 25206101 25206101 G C intronic ENTPD6 NA NA NA intronic ENSG00000197586 NA NA NA NA NA 20p11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452574 NA NA NA NA NA NA NA 5 1152 20 25900135 25900135 C A intergenic FAM182B,LOC100134868 dist=118208;dist=90300 NA NA ncRNA_exonic ENSG00000228593 NA NA NA Score=556;Name=lod=243 NA 20p11.1 NA NA NA NA rs11699441 NA NA 0.481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809443 NA NA NA NA NA NA NA 5 1152 20 29449509 29449509 G A intergenic NONE,FRG1B dist=NONE;dist=162370 NA NA ncRNA_exonic ENSG00000204555 NA NA NA Score=454;Name=lod=93 NA 20q11.21 NA NA NA NA rs4010662 NA NA 0.401 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587362 NA NA NA NA NA NA NA 5 1152 20 30730987 30730987 C T intronic TM9SF4 NA NA NA intronic ENSG00000101337 NA NA NA NA NA 20q11.21 NA NA NA NA NA NA NA NA 0.000599042 NA NA 0.0043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113688 NA NA NA NA NA NA NA 5 1152 20 30897493 30897493 A G intronic KIF3B NA NA NA intronic ENSG00000101350 NA NA NA NA NA 20q11.21 NA NA NA NA NA NA NA NA 0.000998403 NA NA 0.0014 0.0008 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.407337 NA NA NA NA NA NA NA 5 1152 20 34766683 34766683 G T intronic EPB41L1 NA NA NA intronic ENSG00000088367 NA NA NA NA NA 20q11.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911518 NA NA NA NA NA NA NA 5 1152 20 35769500 35769500 T C intronic MROH8 NA NA NA intronic ENSG00000101353 NA NA NA NA NA 20q11.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337032 NA NA NA NA NA NA NA 5 1152 20 35776118 35776118 G T intronic MROH8 NA NA NA intronic ENSG00000101353 NA NA NA NA NA 20q11.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.058767 3.058767 NA NA NA NA NA NA 5 1152 21 10899173 10899173 T C intergenic TEKT4P2,TPTE dist=930580;dist=7570 NA NA ncRNA_exonic ENSG00000223925 NA NA NA Score=574;Name=lod=288 NA 21p11.2 NA NA NA NA rs616160 NA NA 0.572 NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1323 NA NA NA NA NA 0.478 NA 5 1152 21 10934193 10934193 A G intronic TPTE NA NA NA intronic ENSG00000166157 NA NA NA NA NA 21p11.1 Score=777;Name=V$MEF2_02 NA NA NA rs8132116 NA NA 0.138 NA NA NA NA NA NA NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270342 NA NA NA NA NA 0.159 NA 5 1152 21 11154412 11154412 A G intergenic BAGE,NONE dist=55475;dist=NONE NA NA ncRNA_exonic ENSG00000231962 NA NA NA Score=343;Name=lod=33 NA 21p11.1 NA NA NA NA rs3879425 NA NA 0.362 NA NA NA NA NA NA NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.326961 NA NA NA NA NA 0.384 NA 5 1152 21 43796099 43796099 C G intronic TMPRSS3 NA NA NA intronic ENSG00000160183 NA NA NA NA NA 21q22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.877637 NA NA NA NA NA NA NA 5 1152 22 16349564 16349564 G A intergenic POTEH,OR11H1 dist=61627;dist=99260 NA NA ncRNA_exonic ENSG00000224435 NA NA NA Score=674;Name=lod=733 NA 22q11.1 NA NA NA NA rs2158040 NA NA 0.124 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843434 NA NA NA NA NA NA NA 5 1152 22 16350245 16350245 C A intergenic POTEH,OR11H1 dist=62308;dist=98579 NA NA ncRNA_splicing ENSG00000224435 ENST00000426025:exon5:c.602-2C>A NA NA Score=541;Name=lod=210 NA 22q11.1 NA NA NA NA rs2905295 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788036 NA NA NA NA NA 0.007 NA 5 1152 22 16414176 16414176 G C intergenic POTEH,OR11H1 dist=126239;dist=34648 NA NA ncRNA_exonic ENSG00000215268 NA NA NA Score=536;Name=lod=202 NA 22q11.1 NA NA NA NA rs11704016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360257 NA NA NA NA NA NA NA 5 1152 22 31332817 31332817 T A intronic MORC2 NA NA NA intronic ENSG00000133422 NA NA NA NA NA 22q12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075538 NA NA NA NA NA NA NA 5 1152 22 41236564 41236564 C G intronic ST13 NA NA NA intronic ENSG00000100380 NA NA NA NA NA 22q13.2 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68262 NA NA NA NA NA NA NA 5 1152 X 1414496 1414496 A T intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA Score=391;Name=lod=52 NA Xp22.33 NA NA NA NA rs28510573 0.17 0.17 NA NA NA NA NA NA NA 0.24 0.19 0.16 0.03 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510207 NA NA NA NA NA 0.029 NA 5 1152 X 79829049 79829049 C T intergenic FAM46D,BRWD3 dist=128239;dist=95938 NA NA ncRNA_exonic ENSG00000228612 NA NA NA Score=405;Name=lod=59 NA Xq21.1 NA NA NA NA rs1848539 0.13 0.13 0.14865 NA NA NA NA NA NA 0.14 0.25 0.07 0.03 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.838664 NA NA NA NA NA 0.08 NA 5 1152 X 99410964 99410964 C T intergenic XRCC6P5,PCDH19 dist=216123;dist=135678 NA NA ncRNA_exonic ENSG00000230592 NA NA NA Score=746;Name=lod=1441 NA Xq22.1 NA NA NA NA rs1962318 0.99 0.99 0.98331 NA NA NA NA NA NA 1 1 1 0.94 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.577427 2.577427 NA NA NA NA 0.594 NA 5 1152 X 100166362 100166362 T C intergenic NOX1,XKRX dist=37028;dist=2069 NA NA ncRNA_exonic ENSG00000179031 NA NA NA Score=784;Name=lod=2048 NA Xq22.1 NA NA NA NA rs191409754 0.0018 0.0018 NA NA NA NA NA NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725141 NA NA NA NA NA NA NA 5 1152 X 100793995 100793995 G C intergenic ARMCX4,ARMCX1 dist=43197;dist=11519 NA NA ncRNA_exonic ENSG00000237682 NA NA NA Score=731;Name=lod=1247 NA Xq22.1 NA NA NA NA rs6523510 0.64 0.64 0.65024 NA NA NA NA NA NA 0.68 0.45 0.63 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111527 NA NA NA NA NA 0.507 NA 5 1152 X 122696563 122696563 C T intergenic GRIA3,THOC2 dist=71797;dist=37849 NA NA ncRNA_exonic ENSG00000228466 NA NA NA Score=869;Name=lod=4537 NA Xq25 NA NA NA NA rs4825872 0.42 0.42 0.438 NA NA NA NA NA NA 0.33 0.69 0.27 0.34 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012533 NA NA NA NA NA 0.246 NA 5 1152 X 150162235 150162235 C T intergenic HMGB3,MIR4330 dist=2987;dist=174459 NA NA ncRNA_exonic ENSG00000230508 NA NA NA Score=478;Name=lod=117 NA Xq28 NA NA NA NA rs6627833 0.2 0.2 0.16932 NA NA NA NA NA NA 0.22 0.25 0.23 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274 NA NA NA NA NA 0.116 NA 5 1152 X 155215244 155215244 G T intergenic VAMP7,IL9R dist=41811;dist=12002 NA NA ncRNA_exonic ENSG00000223484 NA NA NA Score=745;Name=lod=1423 NA Xq28 NA NA NA NA rs56006417 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142542 NA NA NA NA NA 0.181 NA 5 1152 X 155215373 155215373 C T intergenic VAMP7,IL9R dist=41940;dist=11873 NA NA ncRNA_exonic ENSG00000223484 NA NA NA Score=745;Name=lod=1423 NA Xq28 NA NA NA NA rs56096248 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534553 NA NA NA NA NA 0.268 NA 5 1152 X 155215551 155215551 G A intergenic VAMP7,IL9R dist=42118;dist=11695 NA NA ncRNA_exonic ENSG00000223484 NA NA NA Score=745;Name=lod=1423 NA Xq28 NA NA NA NA rs4013617 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295748 1.295748 NA NA NA NA 0.493 NA 5 1152 Y 3720321 3720321 A G intergenic TGIF2LY,PCDH11Y dist=272239;dist=1147946 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630442 NA NA NA NA NA NA NA 5 1152 Y 10011498 10011498 G C intergenic TTTY23B,NONE dist=261927;dist=NONE NA NA ncRNA_exonic ENSG00000226061 NA NA NA Score=589;Name=lod=331 NA Yp11.2 NA NA NA NA rs2313792 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925744 NA NA NA NA NA 0.007 NA 5 1152 Y 10011502 10011502 A G intergenic TTTY23B,NONE dist=261931;dist=NONE NA NA ncRNA_exonic ENSG00000226061 NA NA NA Score=589;Name=lod=331 NA Yp11.2 NA NA NA NA rs451993 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609859 NA NA NA NA NA NA NA 5 1152 Y 10029308 10029308 A T intergenic TTTY23B,NONE dist=279737;dist=NONE NA NA ncRNA_exonic ENSG00000237447 NA NA NA Score=836;Name=lod=3342 NA Yp11.2 NA NA NA NA rs75275679 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.098348 NA NA NA NA NA NA NA 5 1152 Y 10029322 10029322 T C intergenic TTTY23B,NONE dist=279751;dist=NONE NA NA ncRNA_exonic ENSG00000237447 NA NA NA Score=836;Name=lod=3342 NA Yp11.2 NA NA NA NA rs75297592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015233 NA NA NA NA NA 0.232 NA 5 1152 Y 13470805 13470805 G A intergenic NONE,GYG2P1 dist=NONE;dist=1047110 NA NA ncRNA_exonic ENSG00000259154 NA NA NA NA NA Yq11.21 NA NA Name=32 NA rs80192207 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644003 NA NA NA NA NA NA NA 5 1152 Y 13488480 13488480 G A intergenic NONE,GYG2P1 dist=NONE;dist=1029435 NA NA ncRNA_exonic ENSG00000258991 NA NA NA NA NA Yq11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541193 NA NA NA NA NA NA NA 5 1152 Y 14107314 14107314 T C intergenic NONE,GYG2P1 dist=NONE;dist=410601 NA NA ncRNA_exonic ENSG00000235649 NA NA NA NA NA Yq11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913872 NA NA NA NA NA NA NA 5 1152 10 33113432 33113432 T C intronic C10orf68 NA NA NA intronic ENSG00000150076 NA NA NA NA NA 10p11.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008342 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265397 NA NA NA NA NA NA NA 4.9999917 1152 19 39906947 39906947 G A intronic PLEKHG2 NA NA NA intronic ENSG00000090924 NA NA NA NA NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6914 NA NA NA NA NA NA NA 4.9999917 1152 16 67688818 67688818 C A intronic RLTPR NA NA NA intronic ENSG00000159753 NA NA NA NA NA 16q22.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008377 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582921 NA NA NA NA NA NA NA 4.9999916 1152 15 76079105 76079105 T C intergenic MIR4313,UBE2Q2 dist=24449;dist=56517 NA NA ncRNA_intronic ENSG00000187812 NA NA NA NA NA 15q24.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008487 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.665162 NA NA NA NA NA NA NA 4.9999915 1152 19 55776803 55776803 C T intronic HSPBP1 NA NA NA intronic ENSG00000133265 NA NA NA NA NA 19q13.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008561 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10593 NA NA NA NA NA NA NA 4.9999914 1152 7 103029574 103029574 C T intronic SLC26A5 NA NA NA intronic ENSG00000170615 NA NA NA NA NA 7q22.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009068 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040617 NA NA NA NA NA NA NA 4.9999909 1152 19 1074324 1074324 C A intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009932 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.846844 2.846844 NA NA NA NA NA NA 4.9999901 1152 17 34308362 34308362 C T intronic CCL16 NA NA NA intronic ENSG00000161573 NA NA NA NA NA 17q12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001258 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.414337 1.414337 NA NA NA NA NA NA 4.9999874 1152 5 72189540 72189540 T C intronic TNPO1 NA NA NA intronic ENSG00000083312 NA NA NA NA NA 5q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001651 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.407955 3.407955 NA NA NA NA NA NA 4.9999835 1152 8 22272263 22272263 A G intronic SLC39A14 NA NA NA intronic ENSG00000104635 NA NA NA NA NA 8p21.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001654 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453494 NA NA NA NA NA NA NA 4.9999835 1152 15 72502009 72502009 C A intronic PKM NA NA NA intronic ENSG00000067225 NA NA NA NA NA 15q23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.626906 1.626906 NA NA NA NA NA NA 4.9999835 1152 11 46911117 46911117 G A intronic LRP4 NA NA NA intronic ENSG00000134569 NA NA NA NA NA 11p11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623721 NA NA NA NA NA NA NA 4.9999834 1152 10 114203234 114203234 G T intronic ZDHHC6 NA NA NA intronic ENSG00000023041 NA NA NA NA NA 10q25.2 NA NA NA NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.00002494 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269057 NA NA NA NA NA NA NA 4.9999751 1152 9 35555730 35555730 G A intronic RUSC2 NA NA NA intronic ENSG00000198853 NA NA NA NA NA 9p13.3 NA NA NA NA NA NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.00002679 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.72621 NA NA NA NA NA NA NA 4.9999732 1152 8 22390576 22390576 C G intronic PPP3CC NA NA NA intronic ENSG00000120910 NA NA NA NA NA 8p21.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003588 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609072 NA NA NA NA NA NA NA 4.9999641 1152 9 116858312 116858312 G A intronic KIF12 NA NA NA intronic ENSG00000136883 NA NA NA NA NA 9q32 NA Name=CTCF NA NA rs188701783 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00003653 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036685 NA NA NA NA NA NA NA 4.9999635 1152 19 7594101 7594101 C T intronic MCOLN1 NA NA NA intronic ENSG00000090674 NA NA NA NA NA 19p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004145 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006925 NA NA NA NA NA NA NA 4.9999586 1152 5 137846922 137846922 T C intronic ETF1 NA NA NA intronic ENSG00000120705 NA NA NA NA NA 5q31.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000499 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969391 NA NA NA NA NA NA NA 4.9999501 1152 8 2949013 2949013 T C intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005361 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391006 NA NA NA NA NA NA NA 4.9999464 1152 1 32207340 32207340 G A intronic BAI2 NA NA NA intronic ENSG00000121753 NA NA NA NA NA 1p35.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005886 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41814 NA NA NA NA NA NA NA 4.9999411 1152 15 30065566 30065566 G A intronic TJP1 NA NA NA intronic ENSG00000104067 NA NA NA NA NA 15q13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000666 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045513 NA NA NA NA NA NA NA 4.9999334 1152 9 131772933 131772933 C T intronic SH3GLB2 NA NA NA intronic ENSG00000148341 NA NA NA NA NA 9q34.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009109 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.314483 4.314483 NA NA NA NA NA NA 4.9999089 1152 9 136245998 136245998 G A intronic C9orf96 NA NA NA intronic ENSG00000198870 NA NA NA Score=352;Name=lod=36 NA 9q34.2 NA NA NA NA rs376960568 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000169 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229729 NA NA 0.000116 0 NA NA NA 4.9998671 1152 2 238435951 238435951 T C intronic MLPH NA NA NA intronic ENSG00000115648 NA NA NA NA NA 2q37.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087569 NA NA NA NA NA NA NA 4.9998 1152 6 109954383 109954383 T C intronic AK9 NA NA NA intronic ENSG00000155085 NA NA NA Score=435;Name=lod=78 NA 6q21 NA NA NA NA rs201757833 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.23347 1.23347 NA NA NA NA NA NA 4.9998 1152 7 140055425 140055425 C A intronic SLC37A3 NA NA NA intronic ENSG00000157800 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015853 NA NA NA NA NA NA NA 4.9998 1152 19 830854 830854 T C exonic AZU1 NA synonymous SNV AZU1:NM_001700:exon4:c.T507C:p.F169F exonic ENSG00000172232 NA synonymous SNV ENSG00000172232:ENST00000233997:exon4:c.T507C:p.F169F NA NA 19p13.3 NA Name=ZNF263 NA NA rs595844 0.63 0.63 0.632 0.666933 0.5497 0.495 0.6398 0.941 0.6135 0.55 0.47 0.61 0.95 0.5828 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203639 NA NA 0.534651 0.87744 ID=COSM440677;OCCURENCE=1(breast) 0.71 NA 4.9995156 1152 1 22234654 22234654 C T intronic HSPG2 NA NA NA ncRNA_exonic ENSG00000232037 NA NA NA Score=749;Name=lod=1474 NA 1p36.12 NA NA NA NA rs4654995 0.16 0.16 0.146 0.153554 0.334 0.0208 0.1801 0.031 0.2515 0.34 0.02 0.19 0.05 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.762258 2.762258 NA NA NA NA 0.138 NA 4.9993333 1152 12 49522786 49522786 C A intronic TUBA1B NA NA NA ncRNA_intronic ENSG00000258017 NA NA NA NA NA 12q13.12 NA NA Name=5 NA rs1865157 0.51 0.51 NA 0.539736 0.334 0.6835 0.3617 0.643 0.59 0.34 0.72 0.38 0.64 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.431346 NA NA NA NA NA 0.478 NA 4.9993333 1152 2 160710922 160710922 T C exonic LY75,LY75-CD302 NA synonymous SNV LY75-CD302:NM_001198759:exon18:c.A2544G:p.A848A,LY75-CD302:NM_001198760:exon18:c.A2544G:p.A848A,LY75:NM_002349:exon18:c.A2544G:p.A848A exonic ENSG00000054219,ENSG00000248672 NA synonymous SNV ENSG00000054219:ENST00000263636:exon18:c.A2544G:p.A848A,ENSG00000248672:ENST00000504764:exon18:c.A2544G:p.A848A,ENSG00000248672:ENST00000505052:exon18:c.A2544G:p.A848A,ENSG00000054219:ENST00000553424:exon18:c.A2544G:p.A848A,ENSG00000054219:ENST00000554112:exon18:c.A2544G:p.A848A Score=441;Name=lod=83 NA 2q24.2 NA NA NA NA rs2729705 0.56 0.56 0.582 0.522364 0.5736 0.4583 0.438 0.7413 0.2996 0.57 0.45 0.45 0.75 0.5289 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864424 NA NA 0.564884 0.71448 NA 0.616 NA 4.9992826 1152 4 74285363 74285363 C T intronic ALB NA NA NA intronic ENSG00000163631 NA NA NA NA NA 4q13.3 NA Name=Pol2 NA NA rs141131597 0.0014 0.0014 0.002 0.00119808 NA NA 0.0014 0.0038 NA NA NA 0.0028 0.0041 0.0008 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243963 NA NA 0.000116 0.004539 NA NA NA 4.999084 1152 10 126517989 126517989 G A exonic FAM175B NA synonymous SNV FAM175B:NM_032182:exon7:c.G606A:p.V202V exonic ENSG00000165660 NA synonymous SNV ENSG00000165660:ENST00000298492:exon7:c.G606A:p.V202V NA NA 10q26.13 Score=790;Name=V$PAX4_04 NA NA NA rs2303611 0.48 0.48 0.452 0.483027 0.5457 0.5873 0.5663 0.1694 0.6759 0.54 0.61 0.53 0.21 0.5516 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130577 NA NA 0.570349 0.236723 NA 0.609 NA 4.9990176 1152 1 230381977 230381977 A G intronic GALNT2 NA NA NA intronic ENSG00000143641 NA NA NA NA NA 1q42.13 NA NA Name=2 NA rs139940158 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA NA 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047383 NA NA NA NA NA NA NA 4.999 1152 2 132369089 132369089 A G intergenic RNU6-81P,C2orf27A dist=8621;dist=110975 NA NA ncRNA_intronic ENSG00000204434 NA NA NA NA NA 2q21.1 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782061 NA NA NA NA NA NA NA 4.999 1152 2 173423345 173423345 C T intronic PDK1 NA NA NA intronic ENSG00000152256 NA NA NA NA NA 2q31.1 NA Name=KAP1 NA NA rs111666806 0.02 0.02 0.02 0.0211661 0.001 NA 0.0029 0.0779 NA 0.0013 NA 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659548 NA NA NA NA NA 0.029 NA 4.999 1152 2 173659987 173659987 A G intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA NA NA 2q31.1 NA NA NA NA NA NA NA NA 0.00119808 0.001 NA NA NA 0.0051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112985 NA NA NA NA NA NA NA 4.999 1152 2 174907865 174907865 G A intergenic SP3,OLA1 dist=77435;dist=29310 NA NA ncRNA_exonic ENSG00000235414 NA NA NA Score=788;Name=lod=2123 NA 2q31.1 NA NA NA NA rs16841764 0.03 0.03 0.03 0.0453275 0.001 NA 0.0144 0.1626 0.001 0.0013 NA 0.01 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409048 1.409048 NA NA NA NA 0.058 NA 4.999 1152 2 174908579 174908579 C T intergenic SP3,OLA1 dist=78149;dist=28596 NA NA ncRNA_exonic ENSG00000235414 NA NA NA Score=788;Name=lod=2123 NA 2q31.1 NA NA NA NA rs10166201 0.03 0.03 0.037 0.0459265 0.001 NA 0.0144 0.1649 0.001 0.0013 NA 0.01 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356292 NA NA NA NA NA 0.058 NA 4.999 1152 2 231943293 231943293 G A intronic PSMD1 NA NA NA intronic ENSG00000173692 NA NA NA NA NA 2q37.1 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061369 NA NA NA NA NA NA NA 4.999 1152 3 161046975 161046975 G C intergenic NMD3,SPTSSB dist=77180;dist=15605 NA NA ncRNA_exonic ENSG00000243838 NA NA NA Score=661;Name=lod=647 NA 3q26.1 NA NA NA NA rs12634781 0.04 0.04 0.04 0.0417332 0.001 0.0714 0.0058 0.0613 0.0521 0.0013 0.08 NA 0.08 NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164911 NA NA NA NA NA 0.058 NA 4.999 1152 4 89653402 89653402 T G intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA NA NA NA NA 0.000399361 0.001 NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544293 NA NA NA NA NA NA NA 4.999 1152 5 68364848 68364848 G A intergenic PIK3R1,SLC30A5 dist=767199;dist=24928 NA NA ncRNA_exonic ENSG00000249183 NA NA NA Score=679;Name=lod=769 NA 5q13.1 NA NA NA NA rs114451050 0.02 0.02 0.02 0.0183706 0.001 NA 0.0072 0.0643 0.001 0.0013 NA 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68687 NA NA NA NA NA 0.022 NA 4.999 1152 8 24773345 24773345 T G intronic NEFM NA NA NA intronic ENSG00000104722 NA NA NA NA NA 8p21.2 NA NA Name=7 NA rs139935951 0.01 0.01 0.005 0.0103834 0.001 NA 0.0043 0.0363 NA NA NA 0.0028 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578311 NA NA NA NA NA 0.014 NA 4.999 1152 9 86403660 86403660 A C intronic GKAP1 NA NA NA intronic ENSG00000165113 NA NA NA NA NA 9q21.32 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598695 NA NA NA NA NA NA NA 4.999 1152 10 38934323 38934323 T C intergenic LOC399744,ACTR3BP5 dist=193242;dist=55404 NA NA ncRNA_intronic ENSG00000233867 NA NA NA NA NA 10p11.1 NA NA NA NA NA NA NA NA 0.000998403 0.001 NA 0.0014 0.0023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248786 NA NA NA NA NA NA NA 4.999 1152 12 101336383 101336383 A G intronic ANO4 NA NA NA intronic ENSG00000151572 NA NA NA NA NA 12q23.1 NA NA NA NA NA NA NA NA 0.000599042 0.001 NA 0.0014 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911565 NA NA NA NA NA NA NA 4.999 1152 14 19118192 19118192 A G intergenic NONE,OR11H12 dist=NONE;dist=259402 NA NA ncRNA_exonic ENSG00000215398 NA NA NA NA NA 14q11.2 NA Name=FOXA1_(C-20),GATA3_(SC-268) NA NA rs77434589 NA NA NA 0.000399361 0.001 NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264348 NA 0 NA NA NA NA NA 4.999 1152 16 28898682 28898682 G A intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA NA NA NA NA 0.000798722 0.001 NA 0.0043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946419 NA NA NA NA NA NA NA 4.999 1152 16 88958503 88958503 G A intronic CBFA2T3 NA NA NA intronic ENSG00000129993 NA NA NA NA NA 16q24.3 NA NA NA NA NA NA NA NA 0.000798722 0.001 NA 0.0043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604521 NA NA NA NA NA NA NA 4.999 1152 17 21544470 21544470 A G intergenic C17orf51,FAM27L dist=89529;dist=280900 NA NA ncRNA_exonic ENSG00000265019 NA NA NA Score=626;Name=lod=468 NA 17p11.2 NA NA NA NA rs9285743 NA NA 0.44 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337567 NA NA NA NA NA NA NA 4.999 1152 19 22604885 22604885 G A intronic ZNF98 NA NA NA intronic ENSG00000197360 NA NA NA NA NA 19p12 NA Name=YY1 NA NA rs59044739 0.05 0.05 0.053 0.0537141 0.001 NA 0.013 0.1959 NA NA NA 0.02 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434269 NA NA NA NA NA 0.051 NA 4.999 1152 19 22803537 22803537 C T intergenic LOC440518,ZNF492 dist=17185;dist=13589 NA NA ncRNA_intronic ENSG00000268038 NA NA NA Score=608;Name=lod=396 NA 19p12 NA NA NA NA rs10411593 0.05 0.05 0.061 0.0605032 0.001 NA 0.0101 0.2224 0.001 0.0013 NA 0.01 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597286 NA NA NA NA NA 0.072 NA 4.999 1152 12 9222456 9222456 C A intronic A2M NA NA NA intronic ENSG00000175899 NA NA NA NA NA 12p13.31 NA NA Name=2 NA rs185822297 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.00006694 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1085 NA NA NA NA NA NA NA 4.9989331 1152 4 74302077 74302077 G A intronic AFP NA NA NA intronic ENSG00000081051 NA NA NA NA NA 4q13.3 NA Name=HEY1 NA NA rs111642463 0.0014 0.0014 NA 0.00119808 NA NA 0.0014 0.0038 NA NA NA 0.0028 0.0041 0.0012 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645005 NA NA 0.000116 0.004096 NA NA NA 4.998684 1152 21 36421331 36421331 T C intronic RUNX1 NA NA NA UTR5 ENSG00000159216 ENST00000300305:c.-135A>G NA NA NA NA 21q22.12 NA Name=CTCF,c-Fos,NFKB NA NA rs56045941 0.11 0.11 0.112 0.0938498 0.168 0.003 0.1081 0.1203 0.0654 0.18 0.0017 0.12 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.410649 NA NA NA NA NA 0.109 NA 4.9986667 1152 1 43908981 43908981 C T intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA Name=14 NA rs200387534 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0008 0.0007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.851022 NA NA 0.000698 0.000227 NA NA NA 4.998502 1152 4 123269882 123269882 T A intronic KIAA1109 NA NA NA intronic ENSG00000138688 NA NA NA Score=701;Name=lod=943 NA 4q27 NA NA NA NA rs199513340 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.377459 2.377459 NA 0.000246 0.000277 NA NA NA 4.998354 1152 3 50824215 50824215 C T intronic DOCK3 NA NA NA ncRNA_exonic ENSG00000235278 NA NA NA Score=753;Name=lod=1526 NA 3p21.2 NA NA NA NA rs62261860 0.23 0.23 0.219 0.242812 0.335 0.2133 0.2205 0.0658 0.4335 0.33 0.22 0.23 0.09 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739564 NA NA NA NA NA 0.145 NA 4.9983333 1152 3 49064528 49064528 C A intronic IMPDH2 NA NA NA intronic ENSG00000178035 NA NA NA NA NA 3p21.31 NA NA Name=3 NA rs190064444 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0002 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367652 NA NA 0.000581 0.000227 NA NA NA 4.998219 1152 2 130750983 130750983 C T intergenic RAB6C,LOC440905 dist=10672;dist=32589 NA NA ncRNA_exonic ENSG00000217289 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA rs113764089 0.01 0.01 NA 0.00479233 0.002 NA 0.0043 0.0144 NA 0.0026 NA 0.01 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116847 NA NA NA NA NA NA NA 4.998 1152 2 130751145 130751145 C A intergenic RAB6C,LOC440905 dist=10834;dist=32427 NA NA ncRNA_exonic ENSG00000217289 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA rs112980419 0.01 0.01 NA 0.00479233 0.002 NA 0.0043 0.0144 NA 0.0026 NA 0.01 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002867 NA NA NA NA NA NA NA 4.998 1152 9 100461396 100461396 C T intergenic XPA,FOXE1 dist=1705;dist=154141 NA NA ncRNA_exonic ENSG00000214417 NA NA NA Score=259;Name=lod=15 NA 9q22.33 NA NA NA NA rs73500395 0.13 0.13 0.119 0.169529 0.002 0.1518 0.1628 0.4213 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81527 NA NA NA NA NA 0.109 NA 4.998 1152 9 100461509 100461509 G A intergenic XPA,FOXE1 dist=1818;dist=154028 NA NA ncRNA_exonic ENSG00000214417 NA NA NA Score=540;Name=lod=209 NA 9q22.33 NA NA NA NA rs73500397 0.13 0.13 0.123 0.169529 0.002 0.1518 0.1628 0.4213 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40651 NA NA NA NA NA 0.109 NA 4.998 1152 9 100461778 100461778 T C intergenic XPA,FOXE1 dist=2087;dist=153759 NA NA ncRNA_exonic ENSG00000214417 NA NA NA NA NA 9q22.33 NA NA Name=17 NA rs73500400 0.13 0.13 0.109 0.169529 0.002 0.1518 0.1628 0.4213 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316256 NA NA NA NA NA 0.101 NA 4.998 1152 9 100462412 100462412 C T intergenic XPA,FOXE1 dist=2721;dist=153125 NA NA ncRNA_exonic ENSG00000214417 NA NA NA Score=486;Name=lod=126 NA 9q22.33 NA NA NA NA rs56200116 0.13 0.13 0.123 0.168131 0.002 0.1518 0.1628 0.416 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1644 NA NA NA NA NA 0.109 NA 4.998 1152 11 62365359 62365359 G A intronic MTA2 NA NA NA intronic ENSG00000149480 NA NA NA NA NA 11q12.3 Score=899;Name=V$MEIS1_01 NA NA NA rs59314885 0.03 0.03 0.04 0.0301518 0.002 NA 0.0101 0.1074 NA 0.0026 NA 0.01 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355827 1.355827 NA NA NA NA 0.036 NA 4.998 1152 11 62521256 62521256 C T intronic ZBTB3 NA NA NA intronic ENSG00000185670 NA NA NA NA NA 11q12.3 NA Name=TBP,RFX5_(N-494),Egr-1,GATA-1 NA NA rs572513 0.03 0.03 0.03 0.0291534 0.002 NA 0.0144 0.1014 NA 0.0026 NA 0.01 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.265003 NA NA NA NA NA 0.029 NA 4.998 1152 11 65789461 65789461 G A intronic CATSPER1 NA NA NA intronic ENSG00000175294 NA NA NA NA NA 11q13.1 NA NA NA NA NA NA NA NA 0.00119808 0.002 NA 0.0058 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885926 NA NA NA NA NA NA NA 4.998 1152 12 1036225 1036225 T C intronic RAD52 NA NA NA intronic ENSG00000002016 NA NA NA NA NA 12p13.33 NA NA NA NA rs104895069 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177898 NA NA NA NA NA NA CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000114921.1;CLNDSDB=.;CLNDSDBID=. 4.998 1152 12 48563151 48563151 C T intergenic ASB8,C12orf68 dist=11774;dist=14215 NA NA ncRNA_exonic ENSG00000257885 NA NA NA Score=792;Name=lod=2210 NA 12q13.11 NA NA NA NA rs113603629 0.0018 0.0018 NA 0.00179712 0.002 0.001 0.0086 NA NA 0.0013 0.0017 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004402 NA NA NA NA NA 0.007 NA 4.998 1152 13 101763647 101763647 T C intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA NA NA NA NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.149732 NA NA NA NA NA NA NA 4.998 1152 19 18856574 18856574 A G intronic CRTC1 NA NA NA intronic ENSG00000105662 NA NA NA NA NA 19p13.11 NA NA NA NA NA NA NA NA 0.000599042 0.002 NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360937 NA NA NA NA NA NA NA 4.998 1152 1 153318561 153318561 A T intronic PGLYRP4 NA NA NA intronic ENSG00000163218 NA NA NA NA NA 1q21.3 NA Name=NFKB,USF2 NA NA rs201890699 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0004 0.0007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29086 NA NA 0.000698 0.000681 NA NA NA 4.997902 1152 20 57484311 57484311 C G intronic GNAS NA NA NA intronic ENSG00000087460 NA NA NA NA NA 20q13.32 NA Name=Pol2-4H8 NA NA rs199817220 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654617 NA NA 0.00093 0.000227 NA NA NA 4.99767 1152 1 168215499 168215499 C A ncRNA_exonic ANKRD36BP1 NA NA NA ncRNA_exonic ENSG00000214262 NA NA NA Score=395;Name=lod=54 NA 1q24.2 NA NA NA NA rs2205699 0.58 0.58 0.575 0.538538 0.669 0.4385 0.5533 0.593 0.4233 0.67 0.44 0.58 0.59 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102341 NA NA NA NA NA 0.63 NA 4.9976666 1152 2 73898359 73898359 G A ncRNA_intronic ALMS1P NA NA NA ncRNA_intronic ENSG00000163016 NA NA NA NA NA 2p13.1 NA NA Name=3 NA rs4341964 0.55 0.55 0.503 0.552117 0.669 0.6925 0.6744 0.1793 0.7045 0.65 0.66 0.67 0.17 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379435 NA NA NA NA NA 0.5 NA 4.9976666 1152 2 136409250 136409250 T G intronic R3HDM1 NA NA NA intronic ENSG00000048991 NA NA NA NA NA 2q21.3 NA NA NA NA NA NA NA NA 0.000998403 0.001 0.001 0.0014 NA 0.002 NA NA NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.771748 1.771748 NA NA NA NA NA NA 4.9976 1152 8 143961005 143961005 T C exonic CYP11B1 NA synonymous SNV CYP11B1:NM_000497:exon1:c.A225G:p.L75L,CYP11B1:NM_001026213:exon1:c.A225G:p.L75L exonic ENSG00000160882 NA synonymous SNV ENSG00000160882:ENST00000292427:exon1:c.A225G:p.L75L,ENSG00000160882:ENST00000377675:exon1:c.A225G:p.L75L,ENSG00000160882:ENST00000517471:exon1:c.A225G:p.L75L Score=464;Name=lod=103 NA 8q24.3 NA NA NA NA rs6410 0.58 0.58 0.54 0.584065 0.5557 0.752 0.6268 0.4175 0.635 0.55 0.75 0.59 0.41 0.5724 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393746 NA NA 0.541163 0.442351 NA 0.609 NA 4.9974036 1152 1 120508991 120508991 G A intronic NOTCH2 NA NA NA intronic ENSG00000134250 NA NA NA NA NA 1p12 NA NA Name=66 NA rs372367275 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0006 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.508089 NA NA 0.001279 0.000454 NA NA NA 4.997121 1152 1 159336315 159336315 G A intergenic OR10J3,OR10J1 dist=51866;dist=73197 NA NA ncRNA_exonic ENSG00000251686 NA NA NA Score=456;Name=lod=95 NA 1q23.2 NA NA NA NA rs7515532 0.15 0.15 0.156 0.185104 0.003 NA 0.0504 0.6725 NA 0.0013 NA 0.05 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.790237 1.790237 0 NA NA NA 0.181 NA 4.997 1152 4 166259719 166259719 T G intronic MSMO1 NA NA NA intronic ENSG00000052802 NA NA NA NA NA 4q32.3 NA NA Name=13 NA rs17046259 0.08 0.08 0.081 0.0992412 0.003 NA 0.0389 0.3517 0.002 0.0013 NA 0.03 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49714 NA NA NA NA NA 0.051 NA 4.997 1152 8 1801458 1801458 G A intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA NA NA NA NA NA NA 0.000998403 0.003 NA 0.0014 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611037 NA NA NA NA NA NA NA 4.997 1152 9 31254233 31254233 A G intergenic LOC401497,ACO1 dist=845781;dist=1130368 NA NA ncRNA_exonic ENSG00000232203 NA NA NA Score=578;Name=lod=298 NA 9p21.1 NA NA NA NA rs61734459 0.0018 0.0018 0.001 0.00139776 0.003 NA 0.0043 NA 0.001 0.004 NA 0.0028 NA NA 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001583 NA NA NA NA NA 0.022 NA 4.997 1152 12 52183264 52183264 C T intronic SCN8A NA NA NA intronic ENSG00000196876 NA NA NA NA NA 12q13.13 NA NA NA NA NA NA NA NA 0.00139776 0.003 NA 0.0014 NA 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.38411 1.38411 NA NA NA NA NA NA 4.997 1152 19 7795379 7795379 G T intronic CLEC4G NA NA NA intronic ENSG00000182566 NA NA NA NA NA 19p13.2 NA Name=RXRA NA NA rs186988911 0.0032 0.0032 NA 0.00499201 0.003 NA 0.0043 0.0136 0.001 NA NA 0.01 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869879 NA NA NA NA NA NA NA 4.997 1152 14 105924603 105924603 G T intronic MTA1 NA NA NA intronic ENSG00000182979 NA NA NA NA NA 14q32.33 Score=920;Name=V$HOXA3_01 NA NA NA rs188950256 0.0005 0.0005 NA 0.000798722 0.002 NA 0.0029 NA NA NA NA 0.0028 NA 0.0004 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347393 NA NA 0.000814 0.000227 NA NA NA 4.996786 1152 11 43919694 43919694 C T ncRNA_exonic SEC14L1P1 NA NA NA ncRNA_exonic ENSG00000213693 NA NA NA Score=649;Name=lod=580 NA 11p11.2 NA NA NA NA rs2460130 0.59 0.59 0.596 0.550919 0.67 0.6915 0.3934 0.469 0.5061 0.67 0.67 0.43 0.49 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647788 NA NA NA NA NA 0.543 NA 4.9966666 1152 11 43919778 43919778 C T ncRNA_exonic SEC14L1P1 NA NA NA ncRNA_exonic ENSG00000213693 NA NA NA Score=649;Name=lod=580 NA 11p11.2 NA NA NA NA rs2434474 0.59 0.59 0.595 0.551518 0.67 0.6915 0.3948 0.469 0.5082 0.67 0.67 0.43 0.49 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070434 NA NA NA NA NA 0.543 NA 4.9966666 1152 22 24002030 24002030 T C ncRNA_intronic GUSBP11 NA NA NA ncRNA_exonic ENSG00000228315 NA NA NA Score=555;Name=lod=240 NA 22q11.23 NA NA NA NA rs5751705 0.72 0.72 0.721 0.71845 0.67 0.6716 0.7406 0.7844 0.7117 0.69 0.67 0.7 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70101 NA NA NA NA NA 0.812 NA 4.9966666 1152 10 85984423 85984423 C T exonic LRIT2 NA synonymous SNV LRIT2:NM_001017924:exon2:c.G558A:p.G186G exonic ENSG00000204033 NA synonymous SNV ENSG00000204033:ENST00000372113:exon2:c.G558A:p.G186G,ENSG00000204033:ENST00000538192:exon2:c.G558A:p.G186G NA NA 10q23.1 NA NA NA NA rs11200926 0.22 0.22 0.181 0.207867 0.2346 0.3452 0.2911 0.0522 0.1902 0.22 0.31 0.28 0.07 0.2103 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.480502 NA NA 0.225116 0.087608 NA 0.13 NA 4.9966506 1152 13 25442727 25442727 T C intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA NA NA 13q12.12 Score=1000;Name=V$AML1_01 NA NA NA rs185569714 0.0009 0.0009 NA 0.000998403 0.002 NA 0.0043 NA NA 0.0013 NA 0.0028 NA 0.0006 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.79698 1.79698 NA 0.000814 0 NA NA NA 4.996586 1152 16 601632 601632 T C exonic SOLH NA synonymous SNV SOLH:NM_005632:exon9:c.T2313C:p.G771G exonic ENSG00000103326 NA synonymous SNV ENSG00000103326:ENST00000219611:exon9:c.T2313C:p.G771G NA NA 16p13.3 Score=846;Name=V$MRF2_01 NA NA NA rs3213574 0.68 0.68 0.629 0.717252 0.5199 0.7788 0.6758 0.8268 0.7382 0.54 0.8 0.64 0.81 0.6296 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980459 NA NA 0.520828 0.783538 NA 0.449 NA 4.9963386 1152 12 57423517 57423517 C T intronic MYO1A NA NA NA intronic ENSG00000166866 NA NA NA NA NA 12q13.3 NA NA Name=2 NA rs55985817 0.01 0.01 0.006 0.00339457 0.001 NA 0.0072 0.0083 NA NA NA 0.01 0.02 0.0013 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22088 NA NA 0.001628 0.003858 NA NA NA 4.996072 1152 2 37076594 37076594 T C UTR3 STRN NM_003162:c.*5A>G NA NA UTR3 ENSG00000115808 ENST00000263918:c.*5A>G,ENST00000379213:c.*5A>G NA NA NA NA 2p22.2 NA Name=CEBPB NA NA rs62132521 0.23 0.23 0.23 0.214657 0.0994 0.5407 0.17 0.0968 0.1881 0.1 0.58 0.14 0.11 0.15 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006825 NA NA 0.087907 0.108488 ID=COSN166066;OCCURENCE=1(breast) 0.21 NA 4.9960264 1152 2 234386134 234386134 A G exonic USP40 NA synonymous SNV USP40:NM_018218:exon31:c.T3648C:p.H1216H exonic ENSG00000085982 NA synonymous SNV ENSG00000085982:ENST00000427112:exon31:c.T3612C:p.H1204H,ENSG00000085982:ENST00000450966:exon31:c.T3648C:p.H1216H,ENSG00000085982:ENST00000251722:exon32:c.T3612C:p.H1204H NA NA 2q37.1 NA NA NA NA rs2971863 0.24 0.24 0.235 0.25619 0.2455 0.1438 0.1542 0.5053 0.1186 0.23 0.12 0.15 0.47 0.2149 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246155 NA NA 0.210252 0.417473 NA 0.232 NA 4.9960146 1152 1 21042188 21042188 G T intronic KIF17 NA NA NA intronic ENSG00000117245 NA NA NA NA NA 1p36.12 NA NA NA NA NA NA NA NA 0.00159744 0.004 NA 0.0029 0.0015 NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869856 NA NA NA NA NA 0.007 NA 4.996 1152 1 110194226 110194226 G A intergenic AMPD2,GSTM4 dist=19549;dist=4472 NA NA ncRNA_exonic ENSG00000235045 NA NA NA Score=757;Name=lod=1586 NA 1p13.3 NA NA NA NA rs150732584 0.0009 0.0009 0.002 0.000798722 0.004 NA NA NA NA 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651156 NA NA NA NA NA NA NA 4.996 1152 2 130987133 130987133 G A intergenic TUBA3E,CCDC115 dist=31099;dist=108683 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=582;Name=lod=310 NA 2q21.1 NA NA NA NA rs114368625 0.02 0.02 0.016 0.0307508 0.004 NA 0.0144 0.1059 NA 0.004 NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363022 NA NA NA NA NA 0.022 NA 4.996 1152 2 130987536 130987536 G C intergenic TUBA3E,CCDC115 dist=31502;dist=108280 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=609;Name=lod=398 NA 2q21.1 NA NA NA NA rs112419252 0.02 0.02 0.01 0.0245607 0.004 NA 0.013 0.0832 NA 0.004 NA 0.01 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10543 NA NA NA NA NA 0.022 NA 4.996 1152 2 130987580 130987580 T C intergenic TUBA3E,CCDC115 dist=31546;dist=108236 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=609;Name=lod=398 NA 2q21.1 NA NA NA NA rs113153044 0.03 0.03 0.021 0.0319489 0.004 NA 0.0144 0.1104 NA 0.004 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040898 NA NA NA NA NA 0.036 NA 4.996 1152 2 130988070 130988070 C T intergenic TUBA3E,CCDC115 dist=32036;dist=107746 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs11885230 0.03 0.03 0.017 0.0317492 0.004 NA 0.0144 0.1097 NA 0.004 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010967 NA NA NA NA NA NA NA 4.996 1152 2 130988622 130988622 C T intergenic TUBA3E,CCDC115 dist=32588;dist=107194 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=652;Name=lod=595 NA 2q21.1 NA NA NA NA rs114624887 0.03 0.03 0.014 0.0327476 0.004 NA 0.0144 0.1104 0.0041 0.004 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294885 NA NA NA NA NA 0.014 NA 4.996 1152 8 124301077 124301077 C T intergenic ZHX1-C8ORF76,ATAD2 dist=14350;dist=31014 NA NA ncRNA_exonic ENSG00000253336 NA NA NA Score=711;Name=lod=1038 NA 8q24.13 NA NA NA NA rs117027248 0.0032 0.0032 0.001 0.00499201 0.004 0.001 0.0058 NA 0.0164 0.01 0.0017 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065468 NA NA NA NA NA 0.007 NA 4.996 1152 17 6225733 6225733 C T intergenic WSCD1,AIPL1 dist=197986;dist=101326 NA NA ncRNA_exonic ENSG00000262609 NA NA NA Score=682;Name=lod=789 NA 17p13.2 NA NA NA NA rs150206973 0.0027 0.0027 0.001 0.00159744 0.004 NA 0.0058 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.739017 1.739017 NA NA NA NA NA NA 4.996 1152 18 55431184 55431184 A C intronic ATP8B1 NA NA NA intronic ENSG00000081923 NA NA NA Score=595;Name=lod=350 NA 18q21.31 NA NA NA NA rs79826979 0.02 0.02 0.021 0.0271565 0.004 NA 0.0072 0.0961 NA 0.0013 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755876 NA NA NA NA NA 0.014 NA 4.996 1152 20 31888984 31888984 T C intronic BPIFB1 NA NA NA intronic ENSG00000125999 NA NA NA NA NA 20q11.21 NA NA Name=28 NA rs6120220 0.05 0.05 0.056 0.0706869 0.004 0.001 0.0173 0.2549 NA 0.01 NA 0.02 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277435 NA NA NA NA NA 0.058 NA 4.996 1152 15 91009192 91009192 T C intronic IQGAP1 NA NA NA intronic ENSG00000140575 NA NA NA NA NA 15q26.1 NA Name=c-Fos Name=53 NA rs2074583 0.43 0.43 0.424 0.464058 0.2932 0.6488 0.5331 0.3661 0.5327 0.3 0.64 0.46 0.38 0.3979 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564147 NA NA 0.312936 0.350318 NA 0.435 NA 4.995964 1152 22 24236819 24236819 T C ncRNA_exonic LOC284889 NA NA NA UTR3 ENSG00000218537 ENST00000406213:c.*416A>G NA NA NA NA 22q11.23 NA Name=HA-E2F1,CTCF_(SC-5916),GABP,Pol2 NA NA rs2096525 0.21 0.21 0.193 0.207069 0.1809 0.1865 0.2089 0.2383 0.2117 0.18 0.21 0.24 0.25 0.1992 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089243 NA NA 0.124015 0.157986 NA 0.022 NA 4.995885 1152 15 89442606 89442606 C T UTR3 MFGE8 NM_005928:c.*20G>A,NM_001114614:c.*20G>A NA NA UTR3 ENSG00000140545 ENST00000539437:c.*20G>A,ENST00000558018:c.*1159G>A,ENST00000268151:c.*20G>A,ENST00000268150:c.*20G>A,ENST00000566497:c.*20G>A,ENST00000542878:c.*20G>A NA NA NA NA 15q26.1 NA Name=Pol2-4H8 NA NA rs2280214 0.09 0.09 0.11 0.0970447 0.1213 0.0466 0.0793 0.0726 0.1697 0.11 0.06 0.09 0.07 0.102 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125684 NA NA 0.114356 0.065909 NA 0.072 NA 4.9956774 1152 11 43919786 43919786 C G ncRNA_exonic SEC14L1P1 NA NA NA ncRNA_exonic ENSG00000213693 NA NA NA Score=649;Name=lod=580 NA 11p11.2 NA NA NA NA rs2460131 0.61 0.61 0.618 0.570687 0.671 0.7361 0.4452 0.4735 0.5174 0.67 0.71 0.48 0.5 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065808 NA NA NA NA NA 0.551 NA 4.9956666 1152 11 62190700 62190700 T C downstream SCGB1A1 NA NA NA ncRNA_intronic ENSG00000255446 NA NA NA NA NA 11q12.3 NA NA Name=11 NA rs2302364 0.21 0.21 0.201 0.225639 0.171 0.244 0.1571 0.1755 0.3793 0.17 0.29 0.18 0.2 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431844 NA NA NA NA NA 0.123 NA 4.9956666 1152 14 101200645 101200645 T C exonic DLK1 NA synonymous SNV DLK1:NM_003836:exon5:c.T564C:p.I188I exonic ENSG00000185559 NA synonymous SNV ENSG00000185559:ENST00000331224:exon5:c.T564C:p.I188I,ENSG00000185559:ENST00000341267:exon5:c.T564C:p.I188I Score=488;Name=lod=128 NA 14q32.2 NA NA NA NA rs1802710 0.75 0.75 0.706 0.743211 0.5447 0.994 0.6844 0.7731 0.6902 0.56 1 0.65 0.82 0.628 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300916 1.300916 NA 0.498488 0.746028 ID=COSM432669;OCCURENCE=1(breast),1(prostate),1(large_intestine) 0.587 NA 4.9954786 1152 7 78115932 78115932 T A intronic MAGI2 NA NA NA ncRNA_exonic ENSG00000226230 NA NA NA Score=461;Name=lod=100 NA 7q21.11 NA NA NA NA rs10260935 0.32 0.32 0.289 0.358626 0.338 0.2262 0.3833 0.3578 0.5 0.33 0.22 0.38 0.36 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317548 NA NA NA NA NA 0.362 NA 4.9953333 1152 17 4725254 4725254 A T intronic PLD2 NA NA NA intronic ENSG00000129219 NA NA NA NA NA 17p13.2 NA NA Name=2 NA rs73341622 0.01 0.01 0.007 0.0151757 NA NA 0.0014 0.0567 NA NA NA NA 0.04 0.0047 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.081392 NA NA 0 0.050113 NA 0.022 NA 4.9953 1152 1 159800003 159800003 C T intronic SLAMF8 NA NA NA intronic ENSG00000158714 NA NA NA NA NA 1q23.2 NA NA Name=80 NA rs148674725 0.01 0.01 0.007 0.0139776 NA NA NA 0.053 NA NA NA NA 0.05 0.0045 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775543 NA NA 0.000349 0.043123 NA 0.007 NA 4.995151 1152 19 40319232 40319232 G A intronic DYRK1B NA NA NA intronic ENSG00000105204 NA NA NA NA NA 19q13.2 NA Name=GR NA NA rs76318664 0.01 0.01 0.008 0.00858626 0.001 NA 0.0043 0.0295 NA 0.0013 NA NA 0.03 0.0034 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518939 NA NA 0.000465 0.027463 NA 0.014 NA 4.995135 1152 2 101549562 101549562 A G intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 Score=708;Name=V$NRSF_01 NA NA NA rs189693085 0.0018 0.0018 NA 0.00219649 0.005 NA 0.0086 NA NA 0.0013 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.824914 1.824914 NA NA NA NA NA NA 4.995 1152 2 130987779 130987779 A G intergenic TUBA3E,CCDC115 dist=31745;dist=108037 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs111487426 0.03 0.03 0.024 0.0393371 0.005 NA 0.0159 0.1369 NA 0.004 NA 0.02 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032033 NA NA NA NA NA 0.051 NA 4.995 1152 2 130988017 130988017 C G intergenic TUBA3E,CCDC115 dist=31983;dist=107799 NA NA ncRNA_exonic ENSG00000213225 NA NA NA Score=728;Name=lod=1216 NA 2q21.1 NA NA NA NA rs4519461 0.03 0.03 NA 0.0391374 0.005 NA 0.0159 0.1362 NA 0.004 NA 0.02 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374979 NA NA NA NA NA 0.022 NA 4.995 1152 10 79493097 79493097 G T intergenic KCNMA1,DLG5 dist=95520;dist=57452 NA NA ncRNA_exonic ENSG00000213514 NA NA NA Score=752;Name=lod=1511 NA 10q22.3 NA NA NA NA rs117264103 0.0032 0.0032 0.003 0.00179712 0.005 NA 0.0043 0.0008 NA 0.01 NA 0.0028 0.002 NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193051 NA NA NA NA NA 0.014 NA 4.995 1152 11 118959280 118959280 T C intronic HMBS NA NA NA intronic ENSG00000256269 NA NA NA NA NA 11q23.3 NA NA Name=2 NA rs1144041 0.1 0.1 0.116 0.101038 0.005 NA 0.0562 0.3495 NA 0.01 NA 0.06 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719713 1.719713 NA NA NA NA 0.13 NA 4.995 1152 17 53638907 53638907 C T intergenic MMD,TMEM100 dist=139566;dist=158081 NA NA ncRNA_exonic ENSG00000236319 NA NA NA Score=449;Name=lod=89 NA 17q22 NA NA NA NA rs61750872 NA NA NA 0.00159744 0.005 NA 0.0043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.377372 1.377372 NA NA NA NA NA NA 4.995 1152 17 74922895 74922895 G A intronic MGAT5B NA NA NA intronic ENSG00000167889 NA NA NA NA NA 17q25.2 NA NA NA NA NA NA NA NA 0.00279553 0.005 NA 0.0086 0.0023 NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755727 NA NA NA NA NA 0.007 NA 4.995 1152 20 49096451 49096451 G A intergenic LOC284751,PTPN1 dist=164995;dist=30440 NA NA ncRNA_exonic ENSG00000231715 NA NA NA Score=448;Name=lod=88 NA 20q13.13 NA NA NA NA rs147196306 0.0018 0.0018 0.004 0.00139776 0.005 NA 0.0014 NA 0.001 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.883197 2.883197 NA NA NA NA NA NA 4.995 1153 14 24843620 24843620 T C exonic NFATC4 NA synonymous SNV NFATC4:NM_001198965:exon6:c.T1821C:p.T607T,NFATC4:NM_001198966:exon6:c.T1611C:p.T537T,NFATC4:NM_004554:exon6:c.T1821C:p.T607T,NFATC4:NM_001136022:exon7:c.T2010C:p.T670T,NFATC4:NM_001198967:exon7:c.T2010C:p.T670T exonic ENSG00000100968 NA synonymous SNV ENSG00000100968:ENST00000554473:exon3:c.T426C:p.T142T,ENSG00000100968:ENST00000555167:exon3:c.T426C:p.T142T,ENSG00000100968:ENST00000556759:exon3:c.T426C:p.T142T,ENSG00000100968:ENST00000554344:exon5:c.T1611C:p.T537T,ENSG00000100968:ENST00000554661:exon5:c.T1611C:p.T537T,ENSG00000100968:ENST00000557451:exon5:c.T1611C:p.T537T,ENSG00000100968:ENST00000250373:exon6:c.T1821C:p.T607T,ENSG00000100968:ENST00000422617:exon6:c.T1785C:p.T595T,ENSG00000100968:ENST00000553708:exon6:c.T1821C:p.T607T,ENSG00000100968:ENST00000553879:exon6:c.T1611C:p.T537T,ENSG00000100968:ENST00000554050:exon6:c.T1821C:p.T607T,ENSG00000100968:ENST00000555453:exon6:c.T1785C:p.T595T,ENSG00000100968:ENST00000556169:exon6:c.T1785C:p.T595T,ENSG00000100968:ENST00000413692:exon7:c.T2010C:p.T670T,ENSG00000100968:ENST00000424781:exon7:c.T1860C:p.T620T,ENSG00000100968:ENST00000539237:exon7:c.T1917C:p.T639T,ENSG00000100968:ENST00000553469:exon7:c.T1917C:p.T639T,ENSG00000100968:ENST00000554591:exon7:c.T2010C:p.T670T,ENSG00000100968:ENST00000554966:exon7:c.T1860C:p.T620T,ENSG00000100968:ENST00000555590:exon7:c.T1860C:p.T620T,ENSG00000100968:ENST00000556279:exon7:c.T1917C:p.T639T Score=472;Name=lod=110 NA 14q12 NA NA NA NA rs2295298 0.33 0.33 0.31 0.284545 0.5885 0.1528 0.3876 0.0741 0.319 0.58 0.16 0.42 0.08 0.4788 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.400441 1.400441 NA 0.604884 0.157059 NA 0.486 NA 4.9944826 1153 3 123871197 123871197 C T intronic KALRN NA NA NA ncRNA_exonic ENSG00000240622 NA NA NA Score=709;Name=lod=1017 NA 3q21.2 NA NA NA NA rs28402839 0.33 0.33 0.27 0.314297 0.339 0.4663 0.3112 0.1362 0.3753 0.33 0.5 0.3 0.14 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25916 NA NA NA NA NA 0.217 NA 4.9943333 1153 12 15103693 15103693 G C intronic ARHGDIB NA NA NA intronic ENSG00000111348 NA NA NA NA NA 12p12.3 NA Name=MEF2A,MEF2C_(SC-13268) NA NA rs200943283 0.0009 0.0009 NA 0.00159744 0.002 NA NA NA 0.0061 0.0026 NA NA NA 0.0017 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269012 NA NA 0.002093 0.000227 NA NA NA 4.994207 1153 1 220488188 220488188 G A intergenic RAB3GAP2,MARK1 dist=42345;dist=213380 NA NA ncRNA_exonic ENSG00000230318 NA NA NA Score=533;Name=lod=195 NA 1q41 NA NA NA NA rs6702901 0.1 0.1 0.09 0.0940495 0.006 0.2133 0.0706 0.115 0.0501 0.01 0.24 0.03 0.12 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021781 NA NA NA NA NA 0.08 NA 4.994 1153 7 944910 944910 G A intronic ADAP1 NA NA NA intronic ENSG00000105963,ENSG00000240230 NA NA NA NA NA 7p22.3 NA NA NA NA NA NA NA 0.031 0.0461262 0.006 NA 0.0173 0.1581 0.0041 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357395 NA NA NA NA NA 0.007 NA 4.994 1153 11 122920597 122920597 G A intergenic LOC341056,HSPA8 dist=30278;dist=7603 NA NA ncRNA_exonic ENSG00000244641 NA NA NA Score=621;Name=lod=444 NA 11q24.1 NA NA NA NA rs141823806 0.0018 0.0018 0.001 0.00159744 0.006 NA 0.0014 NA 0.001 0.004 NA 0.0028 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.279649 NA NA NA NA NA 0.007 NA 4.994 1153 17 21544587 21544587 A G intergenic C17orf51,FAM27L dist=89646;dist=280783 NA NA ncRNA_exonic ENSG00000265019 NA NA NA Score=626;Name=lod=468 NA 17p11.2 NA NA NA NA rs9285744 NA NA 0.419 0.00179712 0.006 NA 0.0029 0.0008 NA NA NA NA NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141015 NA NA NA NA NA 0.232 NA 4.994 1153 20 31763084 31763084 G A intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),FOSL2,FOXA1_(C-20) NA NA rs17124290 0.03 0.03 0.038 0.028155 0.006 NA 0.0058 0.0991 NA 0.01 NA 0.01 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145355 NA NA NA NA NA 0.029 NA 4.994 1153 8 23060155 23060155 C G intronic TNFRSF10A NA NA NA intronic ENSG00000104689 NA NA NA NA NA 8p21.3 NA Name=GR NA NA rs182707081 0.0005 0.0005 NA 0.000399361 NA NA 0.0014 0.0008 NA NA NA 0.0028 NA 0.0023 0.0037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124159 NA NA 0.003721 0.001589 NA NA NA 4.993979 1153 20 20257958 20257958 C T exonic C20orf26 NA synonymous SNV C20orf26:NM_015585:exon22:c.C2652T:p.S884S exonic ENSG00000089101 NA synonymous SNV ENSG00000089101:ENST00000377308:exon6:c.C720T:p.S240S,ENSG00000089101:ENST00000245957:exon22:c.C2652T:p.S884S,ENSG00000089101:ENST00000377309:exon22:c.C720T:p.S240S NA NA 20p11.23 NA NA NA NA rs2424317 0.13 0.13 0.127 0.133986 0.2296 0.004 0.2089 0.0976 0.1656 0.22 0.0035 0.2 0.09 0.1977 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324994 1.324994 NA 0.245581 0.127553 NA 0.152 NA 4.9937856 1153 12 50611477 50611477 G A intronic LIMA1 NA NA NA ncRNA_exonic ENSG00000257531 NA NA NA Score=637;Name=lod=518 NA 12q13.12 NA NA NA NA rs12424691 0.31 0.31 0.304 0.34405 0.34 0.25 0.2565 0.3411 0.5112 0.33 0.27 0.26 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016614 NA NA NA NA NA 0.268 NA 4.9933333 1153 12 50611617 50611617 G A intronic LIMA1 NA NA NA ncRNA_exonic ENSG00000257531 NA NA NA Score=637;Name=lod=518 NA 12q13.12 NA NA NA NA rs12424713 0.31 0.31 0.313 0.34385 0.34 0.25 0.2565 0.3404 0.5112 0.33 0.27 0.26 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595551 NA NA NA NA NA 0.275 NA 4.9933333 1153 22 20838055 20838055 T C intronic KLHL22 NA NA NA ncRNA_exonic ENSG00000236670 NA NA NA Score=572;Name=lod=282 NA 22q11.21 NA NA NA NA rs5749793 0.39 0.39 0.389 0.355232 0.34 0.4583 0.2421 0.4236 0.2526 0.34 0.49 0.3 0.44 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.375968 2.375968 NA NA NA NA 0.246 NA 4.9933333 1153 19 7964616 7964616 G C exonic LRRC8E NA synonymous SNV LRRC8E:NM_001268285:exon2:c.G822C:p.T274T,LRRC8E:NM_025061:exon3:c.G1209C:p.T403T,LRRC8E:NM_001268284:exon4:c.G1209C:p.T403T exonic ENSG00000171017,ENSG00000214248 NA synonymous SNV ENSG00000214248:ENST00000539278:exon1:c.C651G:p.G217G,ENSG00000171017:ENST00000306708:exon3:c.G1209C:p.T403T NA NA 19p13.2 NA NA NA NA rs45603833 0.13 0.13 0.098 0.091853 0.2485 0.001 0.2046 0.0151 0.0481 0.25 0.0017 0.23 0.01 0.1862 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548141 NA NA 0.238721 0.049251 NA 0.196 NA 4.9932456 1153 1 79520995 79520995 C T intergenic ELTD1,NONE dist=48500;dist=NONE NA NA ncRNA_exonic ENSG00000230787 NA NA NA Score=505;Name=lod=151 NA 1p31.1 NA NA NA NA rs147117301 0.0027 0.0027 0.003 0.00159744 0.007 NA 0.0014 NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.231221 NA NA NA NA NA NA NA 4.993 1153 5 76842023 76842023 C T intergenic WDR41,OTP dist=53691;dist=82514 NA NA ncRNA_exonic ENSG00000244019 NA NA NA Score=796;Name=lod=2299 NA 5q13.3 NA NA NA NA rs114889682 0.02 0.02 0.013 0.0205671 0.007 NA 0.0173 0.0635 NA 0.01 NA 0.02 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015144 NA NA NA NA NA 0.022 NA 4.993 1153 7 33039652 33039652 G A intronic FKBP9 NA NA NA intronic ENSG00000105778,ENSG00000122642 NA NA NA NA NA 7p14.3 NA NA Name=2 NA rs61259431 0.09 0.09 0.09 0.128395 0.007 0.1438 0.1441 0.1589 0.1851 0.01 0.15 0.11 0.16 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592575 NA NA NA NA NA 0.145 NA 4.993 1153 8 125933341 125933341 A T intergenic MTSS1,LOC157381 dist=192611;dist=20909 NA NA ncRNA_exonic ENSG00000250428 NA NA NA Score=469;Name=lod=107 NA 8q24.13 NA NA NA NA rs117926803 0.0037 0.0037 0.003 0.00259585 0.007 NA 0.0014 NA 0.0051 0.01 NA 0.0028 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207998 NA NA NA NA NA 0.007 NA 4.993 1153 9 96212665 96212665 T C intronic FAM120AOS NA NA NA intronic ENSG00000188938 NA NA NA NA NA 9q22.31 NA NA Name=9 NA rs182605932 0.0037 0.0037 NA 0.00359425 0.007 NA 0.013 NA 0.002 0.0026 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329507 NA NA NA NA NA NA NA 4.993 1153 14 22033064 22033064 C G intergenic SALL2,OR10G3 dist=27727;dist=4870 NA NA ncRNA_exonic ENSG00000256737 NA NA NA Score=841;Name=lod=3499 NA 14q11.2 NA NA NA NA rs113343966 0.0027 0.0027 0.003 0.00219649 0.007 NA 0.0014 0.0015 0.001 0.01 NA 0.0028 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197938 NA NA NA NA NA NA NA 4.993 1153 15 32059551 32059551 T C intergenic OTUD7A,CHRNA7 dist=112009;dist=263135 NA NA ncRNA_exonic ENSG00000259358 NA NA NA Score=535;Name=lod=200 NA 15q13.3 NA NA NA NA rs190764595 0.0018 0.0018 NA 0.00239617 0.007 NA 0.0072 NA NA 0.0026 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.651251 NA NA NA NA NA NA NA 4.993 1153 16 72763059 72763059 C G intergenic PMFBP1,ZFHX3 dist=556710;dist=53727 NA NA ncRNA_exonic ENSG00000261764 NA NA NA Score=638;Name=lod=523 NA 16q22.2 NA NA NA NA rs151308392 0.01 0.01 0.005 0.00678914 0.007 NA 0.0014 0.0197 NA 0.01 NA 0.0028 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205297 NA NA NA NA NA NA NA 4.993 1153 17 1518196 1518196 G A intronic SLC43A2 NA NA NA intronic ENSG00000167703 NA NA NA NA NA 17p13.3 Score=920;Name=V$E47_01 NA NA NA rs184830904 0.0018 0.0018 NA 0.00199681 0.007 NA NA NA 0.0031 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.263171 3.263171 NA NA NA NA NA NA 4.993 1153 4 47682174 47682174 A G exonic CORIN NA synonymous SNV CORIN:NM_006587:exon8:c.T1116C:p.S372S exonic ENSG00000145244 NA synonymous SNV ENSG00000145244:ENST00000502252:exon7:c.T915C:p.S305S,ENSG00000145244:ENST00000508498:exon7:c.T699C:p.S233S,ENSG00000145244:ENST00000273857:exon8:c.T1116C:p.S372S NA NA 4p12 Score=867;Name=V$RORA1_01 NA NA NA rs10517195 0.39 0.39 0.352 0.371006 0.5785 0.1319 0.5173 0.2549 0.4571 0.59 0.15 0.49 0.26 0.5021 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052562 NA NA 0.593372 0.30118 NA 0.362 NA 4.9926946 1153 3 55043515 55043515 G A intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA NA NA 3p14.3 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs368600150 NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA 0.0015 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652314 NA NA 0.003021 0.000521 NA NA NA 4.992479 1153 8 47884317 47884317 C T intergenic LINC00293,LOC100287846 dist=116910;dist=216613 NA NA ncRNA_exonic ENSG00000215179 NA NA NA Score=806;Name=lod=2512 NA 8q11.1 NA NA NA NA rs181196861 0.01 0.01 NA 0.00479233 0.008 NA 0.0072 NA 0.0112 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763553 NA NA NA NA NA NA NA 4.992 1153 18 21891975 21891975 A G exonic OSBPL1A NA synonymous SNV OSBPL1A:NM_080597:exon13:c.T1065C:p.S355S exonic ENSG00000141447 NA synonymous SNV ENSG00000141447:ENST00000319481:exon13:c.T1065C:p.S355S NA NA 18q11.2 NA NA NA NA rs2337961 0.24 0.24 0.248 0.234026 0.2336 0.0625 0.1527 0.4455 0.183 0.25 0.06 0.19 0.46 0.2158 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604078 NA NA 0.225581 0.406037 ID=COSM1388103;OCCURENCE=1(large_intestine) 0.29 NA 4.9916856 1153 22 49103669 49103669 C T intronic FAM19A5 NA NA NA intronic ENSG00000219438 NA NA NA NA NA 22q13.32 NA NA Name=3 NA rs77372693 0.02 0.02 0.022 0.0269569 NA NA 0.0058 0.0991 NA NA NA 0.01 0.09 0.0077 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67695 NA NA 0.001067 0.06859 NA 0.022 NA 4.991233 1153 1 2411501 2411501 G A intronic PLCH2 NA NA NA intronic ENSG00000149527 NA NA NA NA NA 1p36.32 NA NA NA NA NA NA NA NA 0.00199681 0.0089 NA 0.0014 NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.224988 NA NA NA NA NA 0.007 NA 4.9911 1153 1 171731427 171731427 C T intergenic VAMP4,METTL13 dist=20048;dist=19334 NA NA ncRNA_exonic ENSG00000236741 NA NA NA NA NA 1q24.3 NA Name=Pol2,NRSF,YY1,Pol2-4H8,E2F6,TAF1,USF-1,HEY1 NA NA rs114993143 0.0041 0.0041 0.002 0.00299521 0.0089 NA 0.0058 NA 0.002 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621488 NA NA NA NA NA NA NA 4.9911 1153 16 1826323 1826323 T C downstream EME2,SPSB3 NA NA NA UTR3 ENSG00000197774 ENST00000561903:c.*84T>C,ENST00000564182:c.*84T>C NA NA NA NA 16p13.3 NA NA NA NA NA NA NA NA 0.00259585 0.0089 NA 0.0058 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615006 NA NA NA NA NA NA NA 4.9911 1153 19 21713559 21713559 A G intronic ZNF429 NA NA NA intronic ENSG00000197013 NA NA NA Score=340;Name=lod=32 NA 19p12 NA NA NA NA rs73548623 0.03 0.03 0.029 0.0305511 0.0089 0.0079 0.0072 0.0893 0.0133 0.01 0.01 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.630955 2.630955 NA NA NA NA 0.036 NA 4.9911 1153 3 48414215 48414215 G A UTR5 FBXW12 NM_001159927:c.-43G>A,NM_207102:c.-43G>A NA NA UTR5 ENSG00000164049 ENST00000296438:c.-43G>A,ENST00000415155:c.-43G>A NA NA NA NA 3p21.31 Score=793;Name=V$GFI1_01 NA Name=2 NA rs9815103 0.36 0.36 0.344 0.336861 0.4712 0.3413 0.3631 0.239 0.3078 0.46 0.33 0.37 0.24 0.3987 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065711 NA NA 0.472442 0.281207 NA 0.435 NA 4.9909914 1153 18 55983330 55983330 T C intronic NEDD4L NA NA NA intronic ENSG00000049759 NA NA NA NA NA 18q21.31 NA Name=GABP,TCF4,FOXA1_(SC-101058),ELF1_(SC-631),RXRA,p300,c-Jun,c-Fos,ERalpha_a Name=43 NA rs2288774 0.52 0.52 0.523 0.492612 0.5189 0.3591 0.5072 0.652 0.3773 0.51 0.38 0.5 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36905 NA NA 0.490258 0.651734 ID=COSN165665;OCCURENCE=1(NS) 0.442 NA 4.990842 1153 5 140751128 140751128 C G exonic PCDHGB3 NA nonsynonymous SNV PCDHGB3:NM_018924:exon1:c.C1167G:p.N389K,PCDHGB3:NM_032097:exon1:c.C1167G:p.N389K exonic ENSG00000262209 NA nonsynonymous SNV ENSG00000262209:ENST00000576222:exon1:c.C1167G:p.N389K NA NA 5q31.3 NA NA NA NA rs2240697 0.54 0.54 0.546 0.559305 0.4264 0.3274 0.6326 0.8994 0.4233 0.45 0.34 0.61 0.87 0.4824 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64322 NA NA 0.433729 0.836623 NA 0.565 NA 4.9908044 1153 7 102113260 102113260 C T intronic LRWD1 NA NA NA intronic ENSG00000161036 NA NA NA NA NA 7q22.1 NA Name=Pol2 NA NA rs145841715 0.0009 0.0009 0.003 0.000798722 0.003 NA 0.0014 NA NA 0.0026 NA NA NA 0.0023 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620517 NA NA 0.003955 0.000908 NA NA NA 4.990745 1153 17 76449505 76449505 G C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon65:c.C10449G:p.T3483T exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon65:c.C10407G:p.T3469T,ENSG00000187775:ENST00000585328:exon65:c.C10434G:p.T3478T Score=470;Name=lod=108 NA 17q25.3 NA NA NA NA rs2289751 0.53 0.53 0.516 0.466454 0.5994 0.6042 0.4798 0.3041 0.3978 0.61 0.59 0.53 0.33 0.5174 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059741 NA NA 0.559419 0.340218 NA 0.536 NA 4.9904476 1153 X 2832787 2832787 A G intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs73632954 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0096 NA 0.52 T 0.003 B 0.003 B . . 1.000 N . . . . -1.006 T 0.038 T . -0.369 2.264 -0.417 -0.132 -0.091 2.906 -0.36857 NA 0.02 NA NA NA NA NA 4.9904 1153 11 720197 720197 C T exonic EPS8L2 NA synonymous SNV EPS8L2:NM_022772:exon5:c.C301T:p.L101L exonic ENSG00000177106 NA synonymous SNV ENSG00000177106:ENST00000526198:exon4:c.C301T:p.L101L,ENSG00000177106:ENST00000318562:exon5:c.C301T:p.L101L,ENSG00000177106:ENST00000530636:exon5:c.C301T:p.L101L,ENSG00000177106:ENST00000524763:exon6:c.C301T:p.L101L,ENSG00000177106:ENST00000533256:exon6:c.C301T:p.L101L NA NA 11p15.5 Score=799;Name=V$GFI1_01 NA NA NA rs3087546 0.48 0.48 0.487 0.491813 0.5457 0.2222 0.647 0.5651 0.5051 0.54 0.25 0.65 0.53 0.5451 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616795 NA NA 0.585698 0.53586 ID=COSM1561602;OCCURENCE=1(large_intestine) 0.413 NA 4.9901686 1153 10 37284011 37284011 G A intergenic FZD8,ANKRD30A dist=1353649;dist=130774 NA NA ncRNA_exonic ENSG00000225355 NA NA NA Score=534;Name=lod=197 NA 10p11.21 NA NA NA NA rs73238698 0.04 0.04 0.049 0.0515176 0.0099 NA 0.0159 0.1793 NA 0.01 NA 0.01 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243132 NA NA NA NA NA 0.043 NA 4.9901 1153 11 98436622 98436622 G A intergenic NONE,CNTN5 dist=NONE;dist=455084 NA NA ncRNA_exonic ENSG00000254939 NA NA NA Score=461;Name=lod=100 NA 11q22.1 NA NA NA NA rs182322682 0.0037 0.0037 NA 0.00339457 0.0099 NA 0.0072 0.0015 NA 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031514 NA 0.04 NA NA NA 0.058 NA 4.9901 1153 15 52536475 52536475 T A intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA Name=ELF1_(SC-631) NA NA rs56066716 0.07 0.07 0.064 0.0796725 0.0099 0.1012 0.0591 0.1611 0.0337 0.01 0.11 0.04 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349922 NA NA NA NA NA 0.072 NA 4.9901 1153 15 79024731 79024731 G A intergenic CHRNB4,LOC646938 dist=91144;dist=19648 NA NA ncRNA_exonic ENSG00000261303 NA NA NA Score=445;Name=lod=86 NA 15q25.1 NA NA NA NA rs57342652 0.02 0.02 0.014 0.0213658 0.0099 0.0228 0.0086 0.0318 0.0266 0.01 0.01 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215734 NA NA NA NA NA 0.022 NA 4.9901 1153 1 241731956 241731956 T A intronic KMO NA NA NA intronic ENSG00000117009 NA NA NA Score=563;Name=lod=258 NA 1q43 NA NA NA NA rs187112513 0.0005 0.0005 NA 0.000599042 0.002 NA NA NA 0.001 0.0013 NA NA NA 0.0029 0.0053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.833045 3.833045 NA 0.005349 0.000454 NA NA NA 4.989751 1153 2 110321935 110321935 C T intronic SEPT10 NA NA NA intronic ENSG00000186522 NA NA NA NA NA 2q13 NA NA Name=6 NA rs199917466 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0037 0.0067 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248282 NA NA 0.006676 0.001871 NA NA NA 4.989624 1153 14 104195346 104195346 G A intronic ZFYVE21 NA NA NA intronic ENSG00000100711 NA NA NA NA NA 14q32.33 NA NA Name=9 NA rs188852486 0.0009 0.0009 NA 0.000798722 0.004 NA NA NA NA 0.0026 NA NA NA 0.0026 0.0038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811068 NA NA 0.003837 0.000227 NA NA NA 4.989563 1153 14 88419374 88419374 T C intronic GALC NA NA NA ncRNA_exonic ENSG00000259096 NA NA NA NA NA 14q31.3 NA NA Name=7 NA rs2236362 0.34 0.34 0.319 0.321286 0.3439 0.5327 0.4193 0.0454 0.3834 0.34 0.54 0.42 0.05 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068199 NA NA NA NA NA 0.384 NA 4.9894333 1153 5 35039437 35039437 A G exonic AGXT2 NA synonymous SNV AGXT2:NM_031900:exon3:c.T354C:p.H118H exonic ENSG00000113492 NA synonymous SNV ENSG00000113492:ENST00000231420:exon3:c.T354C:p.H118H,ENSG00000113492:ENST00000510428:exon3:c.T354C:p.H118H Score=607;Name=lod=390 NA 5p13.2 NA NA NA NA rs2279651 0.44 0.44 0.451 0.399161 0.5815 0.2331 0.4121 0.4289 0.3333 0.59 0.23 0.48 0.43 0.4957 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.060242 NA NA 0.600116 0.42079 NA 0.413 NA 4.9893506 1153 7 44612382 44612382 G A intronic DDX56 NA NA NA intronic ENSG00000136271 NA NA NA NA NA 7p13 NA Name=TR4 NA NA rs190166771 0.0018 0.0018 NA 0.00159744 0.005 NA NA NA 0.0031 0.01 NA NA NA 0.0032 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861878 NA NA 0.002558 0.001135 NA NA NA 4.989242 1153 1 120101412 120101412 C A intergenic HSD3B1,HSD3BP4 dist=43731;dist=5091 NA NA ncRNA_exonic ENSG00000239873 NA NA NA Score=721;Name=lod=1134 NA 1p12 NA NA NA NA rs57709343 0.18 0.18 0.19 0.211462 0.0109 0.1042 0.0937 0.6309 0.045 0.004 0.09 0.08 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130157 NA NA NA NA NA 0.203 NA 4.9891 1153 17 38635896 38635896 C T intronic TNS4 NA NA NA intronic ENSG00000131746 NA NA NA NA NA 17q21.2 NA Name=Pol2(b),Pol2 NA NA rs187606865 0.0023 0.0023 NA 0.00199681 0.005 NA 0.0072 NA NA 0.0013 NA 0.01 NA 0.0024 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056989 NA NA 0.003605 0.001135 NA NA NA 4.988995 1153 12 79747441 79747441 C T intronic SYT1 NA NA NA ncRNA_intronic ENSG00000257894 NA NA NA NA NA 12q21.2 NA NA Name=2 NA rs11609641 0.06 0.06 0.047 0.0419329 0.1312 NA 0.0634 0.003 0.0307 0.14 NA 0.07 0.002 0.0868 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.057574 2.057574 NA 0.126395 0.023604 NA 0.022 NA 4.9889383 1153 1 185195953 185195953 C T intronic SWT1 NA NA NA ncRNA_exonic ENSG00000213051 NA NA NA Score=806;Name=lod=2511 NA 1q25.3 NA NA NA NA rs3766717 0.42 0.42 0.404 0.435304 0.3449 0.2768 0.3444 0.6982 0.4008 0.34 0.33 0.33 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514959 NA NA NA NA NA 0.514 NA 4.9884333 1153 2 110942656 110942656 A G intronic NPHP1 NA NA NA ncRNA_exonic ENSG00000233370 NA NA NA Score=803;Name=lod=2446 NA 2q13 NA NA NA NA rs2018711 0.51 0.51 0.52 0.523962 0.3449 0.5942 0.415 0.6543 0.5368 0.33 0.58 0.48 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919185 NA NA NA NA NA 0.449 NA 4.9884333 1153 2 110942694 110942694 T C intronic NPHP1 NA NA NA ncRNA_exonic ENSG00000233370 NA NA NA Score=803;Name=lod=2446 NA 2q13 NA NA NA NA rs1810097 0.51 0.51 0.519 0.523962 0.3449 0.5942 0.415 0.6543 0.5368 0.33 0.58 0.48 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499674 1.499674 NA NA NA NA 0.449 NA 4.9884333 1153 12 121017264 121017264 C T intronic POP5 NA NA NA intronic ENSG00000167272 NA NA NA NA NA 12q24.31 NA Name=Pol2-4H8,TAL1_(SC-12984) Name=16 NA rs2301456 0.28 0.28 0.263 0.258387 0.3519 0.2579 0.3934 0.059 0.3364 0.36 0.28 0.38 0.07 0.3211 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641229 NA NA 0.338837 0.096005 NA 0.246 NA 4.988163 1153 1 55590307 55590307 G T intronic USP24 NA NA NA intronic ENSG00000162402 NA NA NA NA NA 1p32.3 NA NA Name=9 NA rs17111650 0.03 0.03 0.039 0.0411342 NA NA 0.013 0.149 NA NA NA 0.01 0.14 0.0116 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.907856 1.907856 NA 0.00024 0.113555 NA 0.043 NA 4.98816 1153 1 238654968 238654968 C A intergenic LOC339535,CHRM3 dist=5651;dist=1137405 NA NA ncRNA_exonic ENSG00000215149 NA NA NA Score=561;Name=lod=255 NA 1q43 NA NA NA NA rs115398741 0.01 0.01 0.002 0.00459265 0.0119 NA 0.013 0.0015 NA 0.01 NA 0.01 0.0041 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.797331 NA NA NA NA NA 0.007 NA 4.9881 1153 1 238655577 238655577 G A intergenic LOC339535,CHRM3 dist=6260;dist=1136796 NA NA ncRNA_exonic ENSG00000215149 NA NA NA Score=488;Name=lod=128 NA 1q43 NA NA NA NA rs115794711 0.01 0.01 0.004 0.00459265 0.0119 NA 0.013 0.0015 NA 0.01 NA 0.01 0.0041 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.729736 1.729736 NA NA NA NA 0.007 NA 4.9881 1153 11 2356823 2356823 C G intergenic TSPAN32,CD81 dist=17393;dist=41724 NA NA ncRNA_exonic ENSG00000236264 NA NA NA Score=735;Name=lod=1300 NA 11p15.5 NA NA NA NA rs72636998 0.02 0.02 NA 0.0307508 0.002 NA 0.0043 0.1127 NA NA NA 0.0028 0.1 0.0093 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283749 NA NA 0.00093 0.099455 NA 0.043 NA 4.98777 1153 17 39674540 39674540 A G intronic KRT15 NA NA NA intronic ENSG00000171346 NA NA NA NA NA 17q21.2 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) Name=5 NA rs3744784 0.22 0.22 0.228 0.20008 0.3519 0.0843 0.2032 0.1589 0.2168 0.37 0.07 0.25 0.16 0.2982 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544018 NA NA 0.362442 0.211984 NA 0.167 NA 4.987458 1153 19 22362527 22362527 C A UTR3 ZNF676 NM_001001411:c.*225G>T NA NA UTR3 ENSG00000196109 ENST00000397121:c.*225G>T NA NA Score=431;Name=lod=75 NA 19p12 NA NA NA NA rs1378915 0.41 0.41 0.385 0.442292 0.3459 0.3393 0.3689 0.6369 0.4366 0.35 0.32 0.36 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093801 NA NA NA NA NA 0.399 NA 4.9874334 1153 5 138371116 138371116 G A intronic SIL1 NA NA NA ncRNA_exonic ENSG00000242683 NA NA NA Score=719;Name=lod=1111 NA 5q31.2 NA NA NA NA rs6890272 0.37 0.37 0.362 0.384784 0.3459 0.1577 0.3847 0.6331 0.3231 0.35 0.15 0.41 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128824 NA NA NA NA NA 0.384 NA 4.9874333 1153 12 1867017 1867017 G A intronic ADIPOR2 NA NA NA ncRNA_exonic ENSG00000243663 NA NA NA Score=801;Name=lod=2399 NA 12p13.33 NA NA NA NA rs11061974 0.37 0.37 0.344 0.361821 0.3459 0.498 0.5187 0.1641 0.3937 0.33 0.51 0.49 0.2 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896024 NA NA NA NA NA 0.261 NA 4.9874333 1153 7 42835653 42835653 A C intergenic GLI3,C7orf25 dist=559035;dist=113219 NA NA ncRNA_exonic ENSG00000229161 NA NA NA Score=779;Name=lod=1959 NA 7p14.1 NA NA NA NA rs73688818 0.08 0.08 0.082 0.0884585 0.0129 NA 0.0303 0.3094 NA 0.01 NA 0.04 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066099 NA NA NA NA NA 0.109 NA 4.9871 1153 8 22033913 22033913 C G intronic BMP1 NA NA NA intronic ENSG00000168487 NA NA NA NA NA 8p21.3 NA NA Name=8 NA rs117235783 0.01 0.01 0.011 0.0111821 0.0129 NA 0.0029 0.0083 0.0307 0.01 NA 0.01 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808667 NA NA NA NA NA NA NA 4.9871 1153 9 80793290 80793290 T C intergenic GNAQ,CEP78 dist=147071;dist=57701 NA NA ncRNA_exonic ENSG00000233947 NA NA NA Score=563;Name=lod=259 NA 9q21.2 NA NA NA NA rs140126094 0.01 0.01 0.003 0.00339457 0.0129 NA 0.0043 0.0008 NA 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650742 NA NA NA NA NA NA NA 4.9871 1153 9 80795335 80795335 A G intergenic GNAQ,CEP78 dist=149116;dist=55656 NA NA ncRNA_exonic ENSG00000228781 NA NA NA Score=742;Name=lod=1379 NA 9q21.2 NA NA NA NA rs183258576 0.01 0.01 NA 0.00339457 0.0129 NA 0.0043 0.0008 NA 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047906 NA NA NA NA NA NA NA 4.9871 1153 1 89426813 89426813 C T intronic CCBL2 NA NA NA intronic ENSG00000137944 NA NA NA NA NA 1p22.2 NA Name=MafK_(ab50322) NA NA rs6657572 0.03 0.03 0.024 0.0383387 0.002 NA 0.0159 0.1354 NA 0.0026 NA 0.02 0.1 0.0107 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.104796 3.104796 NA 0.000581 0.098956 NA 0.029 NA 4.986719 1153 5 446258 446258 C A intronic EXOC3 NA NA NA intronic ENSG00000180104 NA NA NA NA NA 5p15.33 NA NA Name=2 NA rs76038327 0.01 0.01 0.013 0.0179712 0.005 NA 0.0029 0.0507 0.0164 0.01 NA 0.0028 0.04 0.0084 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467588 NA NA NA NA NA 0.036 NA 4.9866 1153 1 222705483 222705483 G A intronic HHIPL2 NA NA NA intronic ENSG00000143512 NA NA NA Score=419;Name=lod=67 NA 1q41 NA NA NA NA rs139585324 0.0023 0.0023 0 0.00159744 0.004 NA 0.0014 NA 0.0031 0.01 NA 0.0028 NA 0.0041 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.63339 3.63339 NA 0.005349 0.000454 NA NA NA 4.986551 1153 1 38332082 38332082 A T intronic INPP5B NA NA NA intronic ENSG00000204084 NA NA NA NA NA 1p34.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.206568 NA NA NA NA NA NA NA 4.9865 1153 2 159912703 159912703 A G intronic TANC1 NA NA NA ncRNA_exonic ENSG00000226878 NA NA NA Score=622;Name=lod=449 NA 2q24.2 NA NA NA NA rs34834895 0.18 0.18 0.16 0.135783 0.3469 0.003 0.2435 0.0303 0.1217 0.33 0.0017 0.3 0.04 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224009 NA NA NA NA NA 0.254 NA 4.9864333 1153 17 73664712 73664712 A G intronic SAP30BP NA NA NA intronic ENSG00000161526 NA NA NA NA NA 17q25.1 NA NA Name=11 NA rs16968161 0.03 0.03 0.026 0.0363419 NA NA 0.0216 0.1263 NA NA NA 0.02 0.09 0.0124 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857352 NA NA 0.001279 0.128234 NA 0.036 NA 4.986321 1153 2 9621322 9621322 C T intronic IAH1 NA NA NA intronic ENSG00000134330 NA NA NA NA NA 2p25.1 NA NA Name=65 NA rs77857049 0.01 0.01 0.006 0.00539137 0.0139 NA 0.013 NA 0.0041 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702137 NA NA NA NA NA NA NA 4.9861 1153 6 7516934 7516934 C A intergenic RIOK1,DSP dist=98664;dist=24936 NA NA ncRNA_exonic ENSG00000234115 NA NA NA Score=557;Name=lod=244 NA 6p24.3 NA NA NA NA rs17142944 0.04 0.04 0.035 0.0541134 0.0139 0.0397 0.0245 0.1407 0.0143 0.01 0.02 0.02 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136764 NA NA NA NA NA 0.072 NA 4.9861 1153 9 116613021 116613021 A G intergenic RGS3,ZNF618 dist=252998;dist=25541 NA NA ncRNA_exonic ENSG00000232905 NA NA NA Score=417;Name=lod=66 NA 9q32 NA NA NA NA rs141402469 0.0027 0.0027 0.003 0.0061901 0.0139 0.001 0.0029 0.0015 0.0123 0.01 0.0017 NA 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365644 NA NA NA NA NA NA NA 4.9861 1153 15 80767216 80767216 T A intronic ARNT2 NA NA NA intronic ENSG00000172379 NA NA NA NA NA 15q25.1 NA NA Name=34 NA rs56914848 0.1 0.1 0.095 0.113419 0.0139 0.122 0.049 0.2186 0.1104 0.01 0.15 0.04 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406655 NA NA NA NA NA 0.087 NA 4.9861 1153 16 4927343 4927343 A G intronic UBN1 NA NA NA intronic ENSG00000118900 NA NA NA Score=443;Name=lod=84 NA 16p13.3 NA NA NA NA rs117377804 0.0027 0.0027 0.002 0.00239617 0.006 NA 0.0058 NA 0.002 0.01 NA 0.01 NA 0.0028 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.429128 3.429128 NA 0.005465 0.00091 NA 0.007 NA 4.985735 1153 12 50043022 50043022 C T intronic FMNL3 NA NA NA intronic ENSG00000161791 NA NA NA NA NA 12q13.12 NA NA Name=7 NA rs78481893 0.0037 0.0037 0.003 0.00359425 0.004 NA 0.0058 0.0061 0.002 0.01 NA 0.0028 0.01 0.0042 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677079 NA NA 0.006102 0.006983 NA NA NA 4.985698 1153 21 38850470 38850470 C G intronic DYRK1A NA NA NA intronic ENSG00000157540 NA NA NA Score=706;Name=lod=990 NA 21q22.13 NA NA NA NA rs140466090 0.0023 0.0023 0.003 0.00219649 0.006 NA 0.0014 NA 0.0041 0.01 NA 0.0028 NA 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.741531 3.741531 NA 0.005116 0.001816 NA NA NA 4.985484 1153 5 140784055 140784055 T C exonic PCDHGA9 NA synonymous SNV PCDHGA9:NM_018921:exon1:c.T1536C:p.G512G,PCDHGA9:NM_032089:exon1:c.T1536C:p.G512G exonic ENSG00000261934 NA synonymous SNV ENSG00000261934:ENST00000573521:exon1:c.T1536C:p.G512G NA NA 5q31.3 NA NA NA NA rs3749770 0.29 0.29 0.29 0.309904 0.2018 0.1954 0.2608 0.528 0.2791 0.22 0.21 0.26 0.51 0.2574 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.960534 NA NA 0.221985 0.492825 NA 0.297 NA 4.9854816 1153 2 113590390 113590390 G A exonic IL1B NA synonymous SNV IL1B:NM_000576:exon5:c.C315T:p.F105F exonic ENSG00000125538 NA synonymous SNV ENSG00000125538:ENST00000432018:exon4:c.C315T:p.F105F,ENSG00000125538:ENST00000263341:exon5:c.C315T:p.F105F,ENSG00000125538:ENST00000416750:exon5:c.C315T:p.F105F,ENSG00000125538:ENST00000418817:exon5:c.C315T:p.F105F NA NA 2q13 NA NA NA NA rs1143634 0.15 0.15 0.145 0.132788 0.2475 0.0228 0.1254 0.1225 0.1472 0.26 0.03 0.14 0.11 0.1964 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161902 NA NA 0.237442 0.139355 NA 0.13 NA 4.9853246 1153 11 32417962 32417962 A G intronic WT1 NA NA NA intronic ENSG00000184937 NA NA NA NA NA 11p13 NA Name=TR4 NA NA rs5030274 0.0018 0.0018 NA 0.00159744 0.004 NA 0.0058 NA NA 0.0026 NA 0.01 NA 0.0044 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208426 NA NA 0.006281 0.002044 NA NA NA 4.985319 1153 19 41350507 41350507 T C intronic CYP2A6 NA NA NA intronic ENSG00000255974,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA Name=2 NA rs56164728 0.04 0.04 0.033 0.0463259 NA NA 0.013 0.1687 NA 0.0013 NA 0.02 0.14 0.0141 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282864 NA NA 0.000581 0.144576 NA 0.051 NA 4.985319 1153 1 17953748 17953748 G T intronic ARHGEF10L NA NA NA intronic ENSG00000074964 NA NA NA NA NA 1p36.13 NA NA Name=2 NA rs148863977 0.01 0.01 0.004 0.0125799 0.0149 NA 0.0216 0.003 0.0297 0.01 NA 0.02 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329186 NA NA NA NA NA NA NA 4.9851 1153 11 2411536 2411536 C T intronic CD81 NA NA NA intronic ENSG00000110651 NA NA NA NA NA 11p15.5 NA Name=E2F6 NA NA rs12291676 0.1 0.1 0.107 0.124201 0.0149 0.0317 0.0389 0.3805 0.046 0.01 0.02 0.04 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284768 NA NA NA NA NA 0.138 NA 4.9851 1153 11 107779404 107779404 G A intergenic SLC35F2,RAB39A dist=49490;dist=19873 NA NA ncRNA_exonic ENSG00000240652 NA NA NA NA NA 11q22.3 NA Name=CTCF_(SC-5916) NA NA rs9737070 0.05 0.05 0.053 0.067492 0.0149 0.0575 0.0245 0.1225 0.0879 0.01 0.05 0.02 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773029 NA NA NA NA NA 0.043 NA 4.9851 1153 17 21207989 21207989 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs9893916 NA NA NA 0.0181709 0.0149 NA 0.0259 0.0424 0.002 NA NA NA NA NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470522 NA NA NA NA NA 0.507 NA 4.9851 1153 1 12919587 12919587 T C exonic PRAMEF2 NA synonymous SNV PRAMEF2:NM_023014:exon3:c.T327C:p.D109D exonic ENSG00000120952 NA synonymous SNV ENSG00000120952:ENST00000240189:exon3:c.T327C:p.D109D NA NA 1p36.21 NA NA NA NA rs1063762 0.39 0.39 0.3 0.278355 0.2346 0.1885 0.281 0.4244 0.2168 0.37 0.35 0.43 0.43 0.2221 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271065 NA NA 0.224953 0.38995 NA 0.022 NA 4.9850136 1154 17 7990565 7990565 C G intronic ALOX12B NA NA NA intronic ENSG00000179477 NA NA NA NA NA 17p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0152 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63823 NA NA NA NA NA NA NA 4.9848 1154 12 52699548 52699548 T C exonic KRT86 NA synonymous SNV KRT86:NM_002284:exon6:c.T1002C:p.A334A exonic ENSG00000170442 NA synonymous SNV ENSG00000170442:ENST00000293525:exon6:c.T1002C:p.A334A,ENSG00000170442:ENST00000544024:exon7:c.T1002C:p.A334A,ENSG00000170442:ENST00000423955:exon8:c.T1002C:p.A334A NA NA 12q13.13 NA NA NA NA rs2032360 0.36 0.36 0.397 0.455272 0.339 0.4921 0.3357 0.6467 0.363 0.25 0.43 0.31 0.48 0.3431 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737978 NA NA NA NA NA 0.283 NA 4.9845666 1154 8 91094983 91094983 G A UTR5 CALB1 NM_004929:c.-58C>T NA NA UTR5 ENSG00000104327 ENST00000265431:c.-58C>T NA NA NA NA 8q21.3 NA Name=HMGN3,TAF1,E2F6_(H-50),Pol2,NRSF,Mxi1_(bHLH),Sin3Ak-20,HA-E2F1,HDAC2_(SC-6296),Pol2-4H8,Ini1,c-Myc,CCNT2,TBP Name=83 NA rs3087750 0.42 0.42 0.416 0.39976 0.6819 0.2847 0.4452 0.1649 0.5133 0.67 0.27 0.46 0.17 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403748 NA NA 0.666876 0.260838 ID=COSN168368;OCCURENCE=1(large_intestine) 0.42 NA 4.9845574 1154 22 45723854 45723854 C G exonic FAM118A NA synonymous SNV FAM118A:NM_017911:exon4:c.C432G:p.V144V,FAM118A:NM_001104595:exon5:c.C432G:p.V144V exonic ENSG00000100376 NA synonymous SNV ENSG00000100376:ENST00000405673:exon4:c.C432G:p.V144V,ENSG00000100376:ENST00000441876:exon4:c.C432G:p.V144V,ENSG00000100376:ENST00000216214:exon5:c.C432G:p.V144V Score=627;Name=lod=473 NA 22q13.31 NA NA NA NA rs9615108 0.39 0.39 0.364 0.313299 0.5905 0.3006 0.5014 0.0371 0.2812 0.6 0.34 0.46 0.05 0.488 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022452 NA NA 0.603721 0.123922 NA 0.21 NA 4.9844456 1154 7 99500911 99500911 A G exonic TRIM4 NA synonymous SNV TRIM4:NM_033091:exon5:c.T771C:p.S257S,TRIM4:NM_033017:exon6:c.T849C:p.S283S exonic ENSG00000146833 NA synonymous SNV ENSG00000146833:ENST00000349062:exon5:c.T771C:p.S257S,ENSG00000146833:ENST00000354241:exon5:c.T771C:p.S257S,ENSG00000146833:ENST00000355947:exon6:c.T849C:p.S283S NA NA 7q22.1 NA NA NA NA rs2247761 0.55 0.55 0.565 0.578674 0.5338 0.2976 0.4597 0.9039 0.5593 0.55 0.28 0.5 0.89 0.5653 0.89 1 T . . . . . . 1.000 P . . 3.96 T -1.002 T 0.000 T . -1.669 0.012 1.25 -0.206 -0.126 8.215 -1.669101 NA NA 0.583256 0.84453 NA 0.609 NA 4.9843106 1154 1 17959044 17959044 A T intronic ARHGEF10L NA NA NA intronic ENSG00000074964 NA NA NA NA NA 1p36.13 NA Name=CTCF NA NA rs115686702 0.03 0.03 0.031 0.0383387 0.0159 NA 0.0259 0.0976 0.0297 0.01 NA 0.03 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236559 NA NA NA NA NA 0.043 NA 4.9841 1154 1 54483641 54483641 C G intronic LDLRAD1 NA NA NA intronic ENSG00000203985 NA NA NA Score=304;Name=lod=23 NA 1p32.3 NA NA NA NA rs74085130 0.09 0.09 0.099 0.0976438 0.0159 0.0427 0.0187 0.2973 0.0245 0.02 0.05 0.02 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058572 NA NA NA NA NA 0.123 NA 4.9841 1154 1 236273405 236273405 G T intergenic NID1,GPR137B dist=44924;dist=32427 NA NA ncRNA_exonic ENSG00000235371 NA NA NA Score=540;Name=lod=209 NA 1q42.3 NA NA NA NA rs74891748 0.02 0.02 0.012 0.0199681 0.0159 0.0278 0.0115 0.0234 0.0174 0.02 0.02 0.02 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316323 1.316323 NA NA NA NA 0.007 NA 4.9841 1154 1 236274412 236274412 T C intergenic NID1,GPR137B dist=45931;dist=31420 NA NA ncRNA_exonic ENSG00000235371 NA NA NA Score=662;Name=lod=652 NA 1q42.3 NA NA NA NA rs12563733 0.02 0.02 0.01 0.0199681 0.0159 0.0278 0.0115 0.0234 0.0174 0.02 0.02 0.02 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412055 NA NA NA NA NA 0.007 NA 4.9841 1154 4 6698567 6698567 G A intronic S100P NA NA NA intronic ENSG00000163993 NA NA NA NA NA 4p16.1 NA NA Name=32 NA rs74666034 0.01 0.01 0.004 0.0109824 0.0159 NA 0.013 0.0008 0.0297 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348851 NA NA NA NA NA NA NA 4.9841 1154 8 125155234 125155234 T C intergenic FER1L6,TMEM65 dist=22932;dist=167925 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=637;Name=lod=518 NA 8q24.13 NA NA NA NA rs79753260 0.01 0.01 0.002 0.0141773 0.0159 0.001 0.0375 0.0015 0.0266 0.02 0.0035 0.04 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412841 NA NA NA NA NA 0.007 NA 4.9841 1154 2 234763226 234763226 C T upstream HJURP NA NA NA upstream ENSG00000123485 NA NA NA NA NA 2q37.1 NA Name=TBP,IRF1,NF-YB,Oct-2,SETDB1,HEY1,ELF1_(SC-631),IRF3,TAF7_(SQ-8),HA-E2F1,Sin3Ak-20,c-Fos,Pol2-4H8,E2F1,SP1,Pol2,POU2F2,ELK4,E2F4,GABP,Pol2(b),TAF1,NF-YA Name=148 NA rs503913 0.65 0.65 0.597 0.598642 0.6829 0.7262 0.6931 0.4644 0.4949 0.67 0.77 0.67 0.46 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822359 NA NA NA NA NA 0.667 NA 4.9837666 1154 1 35883962 35883962 G A intronic ZMYM4 NA NA NA intronic ENSG00000146463 NA NA NA NA NA 1p34.3 NA NA Name=6 NA rs16837341 0.05 0.05 0.052 0.0650958 0.0169 0.0188 0.0159 0.1868 0.0327 0.02 0.02 0.02 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188823 NA NA NA NA NA 0.065 NA 4.9831 1154 9 101017371 101017371 C T intronic TBC1D2 NA NA NA intronic ENSG00000095383 NA NA NA NA NA 9q22.33 NA Name=Ini1 NA NA rs73488777 0.06 0.06 0.075 0.0708866 0.0169 0.001 0.0389 0.233 0.002 0.01 NA 0.03 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.602244 1.602244 NA NA NA NA 0.043 NA 4.9831 1154 14 70028088 70028088 C T intergenic PLEKHD1,CCDC177 dist=32873;dist=8443 NA NA ncRNA_exonic ENSG00000244237 NA NA NA Score=680;Name=lod=773 NA 14q24.1 NA NA NA NA rs74346423 0.04 0.04 0.044 0.0495208 0.0169 0.004 0.0245 0.1581 0.001 0.02 0.0017 0.02 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234281 NA NA NA NA NA 0.094 NA 4.9831 1154 9 14801687 14801687 T C exonic FREM1 NA synonymous SNV FREM1:NM_144966:exon21:c.A3657G:p.A1219A exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380880:exon20:c.A3657G:p.A1219A,ENSG00000164946:ENST00000380875:exon21:c.A3657G:p.A1219A,ENSG00000164946:ENST00000380881:exon21:c.A3660G:p.A1220A,ENSG00000164946:ENST00000422223:exon21:c.A3657G:p.A1219A NA NA 9p22.3 NA NA NA NA rs10738380 0.17 0.17 0.157 0.176917 0.2336 0.2312 0.1945 0.0325 0.2454 0.23 0.24 0.16 0.02 0.2176 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739158 NA NA 0.232443 0.06148 NA 0.13 NA 4.9830236 1154 20 57767043 57767043 G C exonic ZNF831 NA synonymous SNV ZNF831:NM_178457:exon1:c.G969C:p.A323A exonic ENSG00000124203 NA synonymous SNV ENSG00000124203:ENST00000371030:exon1:c.G969C:p.A323A NA NA 20q13.32 NA NA NA NA rs259984 0.34 0.34 0.27 0.360024 0.2356 0.3522 0.3141 0.5779 0.2342 0.25 0.3 0.29 0.58 0.2786 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242139 NA NA 0.169454 0.360325 ID=COSM1566187;OCCURENCE=1(large_intestine) 0.203 NA 4.9830126 1154 10 91470694 91470694 A G intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA NA Name=24 NA rs76718061 0.0032 0.0032 0.004 0.00179712 0.0089 NA NA NA NA 0.01 NA NA NA 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151415 NA NA 0.004769 0.001362 NA NA NA 4.982931 1154 17 6663895 6663895 C G exonic XAF1 NA synonymous SNV XAF1:NM_199139:exon3:c.C339G:p.R113R,XAF1:NM_017523:exon4:c.C396G:p.R132R exonic ENSG00000132530 NA nonsynonymous SNV ENSG00000132530:ENST00000574907:exon5:c.C494G:p.A165G NA NA 17p13.1 NA NA NA NA rs2271231 0.47 0.47 0.466 0.52496 0.3141 0.5813 0.3934 0.7383 0.4888 0.31 0.54 0.35 0.73 0.3964 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632122 NA NA 0.306628 0.611439 NA 0.399 NA 4.982872 1154 17 80045781 80045781 G A intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA Name=Pol2 NA NA rs137954901 0.0009 0.0009 0.003 0.000998403 0.003 NA NA NA 0.002 0.0026 NA NA NA 0.0055 0.0089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525838 NA NA 0.00885 0.001365 NA NA NA 4.98265 1154 7 65951419 65951419 A G intergenic LINC00174,LOC493754 dist=86024;dist=67134 NA NA ncRNA_intronic ENSG00000230189,ENSG00000244510,ENSG00000244657 NA NA NA Score=289;Name=lod=20 NA 7q11.21 NA NA NA NA rs144605345 0.01 0.01 0.006 0.00479233 0.0179 NA 0.0072 0.0008 NA 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574185 NA NA NA NA NA NA NA 4.9821 1154 17 79813228 79813228 C T intronic P4HB NA NA NA intronic ENSG00000185624 NA NA NA NA NA 17q25.3 NA NA Name=34 NA rs148345851 0.01 0.01 0.006 0.00479233 0.0179 NA 0.0014 0.0023 0.002 0.02 NA NA 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083652 NA NA NA NA NA NA NA 4.9821 1154 1 24140642 24140642 C T intronic HMGCL NA NA NA intronic ENSG00000117305 NA NA NA NA NA 1p36.11 NA NA Name=10 NA rs137992708 0.0027 0.0027 0.003 0.00299521 0.0089 NA 0.0029 0.0015 0.002 0.01 NA 0.0028 NA 0.0031 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647873 NA NA 0.00593 0.002043 NA NA NA 4.98207 1154 7 142460238 142460238 G A intronic PRSS1 NA NA NA intronic ENSG00000204983 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA 0.118 NA NA NA NA NA NA NA NA NA NA 0.018 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207814 NA NA NA NA NA 0.007 NA 4.982 1154 5 150518386 150518386 G A intronic ANXA6 NA NA NA intronic ENSG00000197043 NA NA NA NA NA 5q33.1 NA NA Name=2 NA rs148683104 0.0027 0.0027 0.002 0.00299521 0.008 NA 0.0086 0.0008 NA 0.004 NA 0.01 NA 0.0049 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.580285 1.580285 NA 0.005205 0.000261 NA NA NA 4.981895 1154 9 18661893 18661893 C T intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA Name=p300,STAT1 NA NA rs184592772 0.0041 0.0041 NA 0.00279553 0.0099 NA 0.0014 NA 0.0031 0.01 NA NA NA 0.0055 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.725076 1.725076 NA 0.002791 0.000454 NA NA NA 4.981809 1154 1 36937059 36937059 A G exonic CSF3R NA synonymous SNV CSF3R:NM_000760:exon10:c.T1260C:p.T420T,CSF3R:NM_156039:exon10:c.T1260C:p.T420T,CSF3R:NM_172313:exon10:c.T1260C:p.T420T exonic ENSG00000119535 NA synonymous SNV ENSG00000119535:ENST00000331941:exon8:c.T1260C:p.T420T,ENSG00000119535:ENST00000338937:exon8:c.T1260C:p.T420T,ENSG00000119535:ENST00000418048:exon8:c.T1260C:p.T420T,ENSG00000119535:ENST00000440588:exon8:c.T1260C:p.T420T,ENSG00000119535:ENST00000361632:exon9:c.T1260C:p.T420T,ENSG00000119535:ENST00000373103:exon10:c.T1260C:p.T420T,ENSG00000119535:ENST00000373104:exon10:c.T1260C:p.T420T,ENSG00000119535:ENST00000373106:exon10:c.T1260C:p.T420T NA NA 1p34.3 NA NA NA NA rs3917981 0.53 0.53 0.505 0.592452 0.5666 0.4484 0.4006 0.736 0.7096 0.57 0.4 0.46 0.67 0.5648 0.72 . . . . . . . . 1.000 P . . . . -0.994 T 0.000 T . -1.272 0.044 -0.181 -0.619 -0.839 1.237 -1.272378 NA NA 0.553488 0.716069 NA 0.507 NA 4.9817786 1154 19 14991643 14991643 G A exonic OR7A17 NA synonymous SNV OR7A17:NM_030901:exon1:c.C525T:p.P175P exonic ENSG00000185385 NA synonymous SNV ENSG00000185385:ENST00000327462:exon1:c.C525T:p.P175P NA NA 19p13.12 NA NA NA NA rs10401818 0.3 0.3 0.305 0.277556 0.2356 0.2867 0.2349 0.438 0.1247 0.25 0.29 0.23 0.44 0.2234 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579669 NA NA 0.226163 0.391058 NA 0.348 NA 4.9815036 1154 9 139371342 139371342 G A exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.C726T:p.P242P,SEC16A:NM_014866:exon3:c.C726T:p.P242P exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000290037:exon1:c.C192T:p.P64P,ENSG00000148396:ENST00000313050:exon1:c.C726T:p.P242P,ENSG00000148396:ENST00000371706:exon1:c.C192T:p.P64P,ENSG00000148396:ENST00000431893:exon1:c.C192T:p.P64P NA NA 9q34.3 NA NA NA NA rs11999525 0.15 0.15 0.143 0.132388 0.2396 0.0546 0.2493 0.0454 0.137 0.24 0.07 0.22 0.05 0.2001 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128519 NA NA 0.245493 0.073055 ID=COSM455603,COSM455602;OCCURENCE=1(breast) 0.123 NA 4.9814736 1154 12 78225110 78225110 T C UTR5 NAV3 NM_014903:c.-132T>C NA NA UTR5 ENSG00000067798 ENST00000549464:c.-132T>C,ENST00000266692:c.-132T>C,ENST00000228327:c.-132T>C,ENST00000397909:c.-132T>C,ENST00000536525:c.-132T>C NA NA Score=457;Name=lod=96 NA 12q21.2 NA NA NA NA rs12227066 0.33 0.33 0.323 0.316494 0.3519 0.5337 0.2911 0.0908 0.3793 0.37 0.52 0.28 0.1 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.886457 1.886457 NA NA NA NA 0.275 NA 4.9814334 1154 6 162989826 162989826 G A intronic PARK2 NA NA NA ncRNA_exonic ENSG00000227913 NA NA NA Score=695;Name=lod=892 NA 6q26 NA NA NA NA rs10945846 0.34 0.34 0.303 0.326478 0.3519 0.497 0.3156 0.1558 0.363 0.34 0.51 0.34 0.15 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436683 NA NA NA NA NA 0.304 NA 4.9814333 1154 6 162990703 162990703 G A intronic PARK2 NA NA NA ncRNA_exonic ENSG00000227913 NA NA NA Score=538;Name=lod=205 NA 6q26 NA NA NA NA rs12215884 0.34 0.34 0.297 0.326478 0.3519 0.497 0.3156 0.1558 0.363 0.34 0.51 0.34 0.15 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12129 NA NA NA NA NA 0.297 NA 4.9814333 1154 9 140508684 140508684 T C intronic ARRDC1 NA NA NA intronic ENSG00000197070 NA NA NA NA NA 9q34.3 NA Name=Pol2 NA NA rs10124016 0.02 0.02 0.02 0.0357428 0.005 NA 0.0086 0.1271 NA 0.0013 NA 0.01 0.1 0.0116 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.528319 NA NA 0.001977 0.102587 NA 0.051 NA 4.981423 1154 14 50517672 50517672 T C intergenic C14orf182,C14orf183 dist=43434;dist=32697 NA NA ncRNA_exonic ENSG00000270788 NA NA NA Score=570;Name=lod=276 NA 14q21.3 NA NA NA NA rs75035953 0.01 0.01 0.005 0.00539137 0.0189 NA 0.0058 0.0015 0.002 0.02 NA 0.0028 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.539122 2.539122 NA NA NA NA 0.007 NA 4.9811 1154 9 36003094 36003094 G C intergenic OR2S2,RECK dist=44943;dist=33816 NA NA ncRNA_exonic ENSG00000243641 NA NA NA Score=403;Name=lod=58 NA 9p13.3 NA NA NA NA rs147267725 0.01 0.01 0.004 0.00359425 0.0129 NA 0.0058 0.0008 NA 0.01 NA 0.01 NA 0.0061 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168186 NA NA NA NA NA 0.007 NA 4.981 1154 4 114213561 114213561 G A intronic ANK2 NA NA NA intronic ENSG00000145362 NA NA NA NA NA 4q26 NA Name=NANOG_(SC-33759) NA NA rs146312675 0.0027 0.0027 0.003 0.00119808 0.006 NA NA NA NA 0.01 NA 0.0028 NA 0.006 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687575 1.687575 NA 0.007095 0.001362 NA NA NA 4.980905 1154 1 173474429 173474429 T C exonic SLC9C2 NA synonymous SNV SLC9C2:NM_178527:exon26:c.A3267G:p.Q1089Q exonic ENSG00000162753 NA synonymous SNV ENSG00000162753:ENST00000367714:exon26:c.A3267G:p.Q1089Q NA NA 1q25.1 NA NA NA NA rs12026637 0.29 0.29 0.241 0.304313 0.2087 0.6448 0.3213 0.0136 0.4325 0.22 0.62 0.3 0.02 0.2702 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010015 NA NA 0.207209 0.048116 NA 0.203 NA 4.9805576 1154 1 197112533 197112533 G A exonic ASPM NA synonymous SNV ASPM:NM_001206846:exon3:c.C849T:p.S283S,ASPM:NM_018136:exon3:c.C849T:p.S283S exonic ENSG00000066279 NA synonymous SNV ENSG00000066279:ENST00000294732:exon3:c.C849T:p.S283S,ENSG00000066279:ENST00000367409:exon3:c.C849T:p.S283S NA NA 1q31.3 NA NA Name=12 NA rs6677082 0.8 0.8 0.762 0.755591 0.9095 0.9831 0.8746 0.295 0.9008 0.92 0.99 0.89 0.33 0.8698 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.482792 NA NA 0.906839 0.387199 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081938.1;CLNDSDB=.;CLNDSDBID=. 4.9805276 1154 1 79987731 79987731 G A intergenic ELTD1,NONE dist=515236;dist=NONE NA NA ncRNA_exonic ENSG00000232676 NA NA NA Score=804;Name=lod=2460 NA 1p31.1 NA NA NA NA rs140314886 0.01 0.01 0.008 0.0061901 0.0199 NA 0.0144 0.0008 NA 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743326 NA NA NA NA NA 0.007 NA 4.9801 1154 3 120525389 120525389 T G intergenic GTF2E1,STXBP5L dist=23473;dist=101661 NA NA ncRNA_exonic ENSG00000213371 NA NA NA Score=749;Name=lod=1471 NA 3q13.33 NA NA NA NA rs76579440 0.01 0.01 0.009 0.00958466 0.0199 NA 0.0187 NA 0.0153 0.02 NA 0.02 NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144456 NA NA NA NA NA 0.022 NA 4.9801 1154 3 120525556 120525556 G C intergenic GTF2E1,STXBP5L dist=23640;dist=101494 NA NA ncRNA_exonic ENSG00000213371 NA NA NA Score=528;Name=lod=187 NA 3q13.33 NA NA NA NA rs115209237 0.01 0.01 0.009 0.00958466 0.0199 NA 0.0187 NA 0.0153 0.02 NA 0.02 NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252799 NA NA NA NA NA 0.022 NA 4.9801 1154 10 94675757 94675757 T C intronic EXOC6 NA NA NA intronic ENSG00000138190 NA NA NA NA NA 10q23.33 NA Name=YY1_(C-20) NA NA rs61862282 0.02 0.02 0.024 0.0205671 0.0199 NA 0.0187 0.0439 0.0123 0.02 NA 0.02 0.05 NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018845 NA NA NA NA NA 0.036 NA 4.9801 1154 16 4752134 4752134 A G exonic ANKS3 NA synonymous SNV ANKS3:NM_001242929:exon6:c.T657C:p.D219D,ANKS3:NM_133450:exon9:c.T978C:p.D326D exonic ENSG00000168096 NA synonymous SNV ENSG00000168096:ENST00000586166:exon4:c.T360C:p.D120D,ENSG00000168096:ENST00000450067:exon5:c.T360C:p.D120D,ENSG00000168096:ENST00000586605:exon5:c.T459C:p.D153D,ENSG00000168096:ENST00000592421:exon6:c.T657C:p.D219D,ENSG00000168096:ENST00000446014:exon7:c.T591C:p.D197D,ENSG00000168096:ENST00000585773:exon7:c.T759C:p.D253D,ENSG00000168096:ENST00000304283:exon9:c.T978C:p.D326D NA NA 16p13.3 Score=756;Name=V$HOX13_01 NA NA NA rs841210 0.58 0.58 0.582 0.529952 0.5557 0.6478 0.5331 0.475 0.454 0.56 0.69 0.53 0.53 0.5566 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321713 NA NA 0.574302 0.515476 NA 0.377 NA 4.9800646 1154 8 120790304 120790304 T C exonic TAF2 NA synonymous SNV TAF2:NM_003184:exon18:c.A2319G:p.T773T exonic ENSG00000064313 NA synonymous SNV ENSG00000064313:ENST00000378164:exon18:c.A2319G:p.T773T Score=627;Name=lod=469 NA 8q24.12 NA NA NA NA rs1509348 0.57 0.57 0.555 0.545927 0.5527 0.4296 0.6585 0.6793 0.3988 0.56 0.42 0.64 0.7 0.5695 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890214 NA NA 0.564644 0.679545 NA 0.703 NA 4.9798226 1154 16 58542901 58542901 G A exonic NDRG4 NA synonymous SNV NDRG4:NM_001242834:exon11:c.G819A:p.T273T,NDRG4:NM_001242835:exon11:c.G765A:p.T255T,NDRG4:NM_001242836:exon11:c.G765A:p.T255T,NDRG4:NM_001242833:exon12:c.G855A:p.T285T,NDRG4:NM_001130487:exon13:c.G921A:p.T307T,NDRG4:NM_020465:exon13:c.G861A:p.T287T,NDRG4:NM_022910:exon13:c.G861A:p.T287T exonic ENSG00000103034 NA synonymous SNV ENSG00000103034:ENST00000562999:exon11:c.G765A:p.T255T,ENSG00000103034:ENST00000563799:exon11:c.G819A:p.T273T,ENSG00000103034:ENST00000566192:exon11:c.G765A:p.T255T,ENSG00000103034:ENST00000568640:exon11:c.G819A:p.T273T,ENSG00000103034:ENST00000569923:exon11:c.G600A:p.T200T,ENSG00000103034:ENST00000570248:exon11:c.G765A:p.T255T,ENSG00000103034:ENST00000356752:exon12:c.G855A:p.T285T,ENSG00000103034:ENST00000258187:exon13:c.G861A:p.T287T,ENSG00000103034:ENST00000394279:exon13:c.G861A:p.T287T,ENSG00000103034:ENST00000394282:exon13:c.G921A:p.T307T NA NA 16q21 NA NA NA NA rs867583 0.34 0.34 0.347 0.358826 0.2127 0.5694 0.2392 0.379 0.3497 0.2 0.58 0.21 0.38 0.2748 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322675 NA NA 0.199535 0.374431 NA 0.304 NA 4.9796316 1154 2 71058226 71058226 C T exonic CD207 NA synonymous SNV CD207:NM_015717:exon6:c.G942A:p.T314T exonic ENSG00000116031 NA synonymous SNV ENSG00000116031:ENST00000410009:exon6:c.G942A:p.T314T NA NA 2p13.3 NA NA NA NA rs2080390 0.14 0.14 0.129 0.13758 0.2197 0.0794 0.2406 0.0386 0.1738 0.22 0.07 0.21 0.05 0.2174 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370122 NA NA 0.24994 0.064425 NA 0.101 NA 4.9796266 1154 8 21862551 21862551 A G exonic XPO7 NA synonymous SNV XPO7:NM_015024:exon28:c.A3216G:p.S1072S exonic ENSG00000130227 NA synonymous SNV ENSG00000130227:ENST00000252512:exon28:c.A3216G:p.S1072S,ENSG00000130227:ENST00000433566:exon28:c.A3219G:p.S1073S,ENSG00000130227:ENST00000434536:exon28:c.A3243G:p.S1081S Score=676;Name=lod=743 NA 8p21.3 NA NA NA NA rs1058486 0.59 0.59 0.604 0.577875 0.5994 0.5268 0.4352 0.7632 0.4591 0.6 0.53 0.47 0.75 0.5342 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16057 NA NA 0.553725 0.729763 NA 0.775 NA 4.9793416 1154 2 218625836 218625836 C T intergenic DIRC3,TNS1 dist=4520;dist=38676 NA NA ncRNA_exonic ENSG00000231035 NA NA NA Score=629;Name=lod=481 NA 2q35 NA NA NA NA rs62183684 0.01 0.01 0.008 0.00778754 0.0209 0.001 0.0058 0.0008 0.0123 0.02 0.0017 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565403 NA NA NA NA NA NA NA 4.9791 1154 6 28483482 28483482 A C exonic GPX6 NA unknown UNKNOWN exonic ENSG00000198704 NA unknown UNKNOWN NA NA 6p22.1 NA NA NA NA rs406113 0.49 0.49 0.507 0.491813 0.329 0.5149 0.402 0.7466 0.3548 0.32 0.53 0.41 0.77 0.3792 0.77 1 T 0.0 B 0.0 B 0.909 N 1.000 P -1.765 N 4.48 T -0.916 T 0.001 T 0.149 -1.211 0.067 1.48 0.067 0.141 4.347 -1.210846 NA NA 0.313056 0.66844 NA 0.449 NA 4.978744 1154 22 45943093 45943093 G A intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA Name=2 NA rs142798380 0.0037 0.0037 0.003 0.00219649 0.0099 NA 0.0014 NA NA 0.01 NA NA NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18548 NA NA 0.007907 0.001135 NA NA NA 4.978593 1154 6 150116626 150116626 C T intronic PCMT1 NA NA NA ncRNA_exonic ENSG00000219433 NA NA NA Score=707;Name=lod=996 NA 6q25.1 NA NA NA NA rs3805752 0.46 0.46 0.409 0.431909 0.3549 0.8234 0.6037 0.1415 0.3783 0.35 0.8 0.57 0.17 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351472 NA NA NA NA NA 0.478 NA 4.9784333 1154 11 13410371 13410371 A G UTR3 BTBD10 NM_032320:c.*7T>C NA NA UTR3 ENSG00000148925 ENST00000278174:c.*7T>C,ENST00000527102:c.*737T>C,ENST00000530907:c.*7T>C,ENST00000528120:c.*7T>C NA NA Score=537;Name=lod=203 NA 11p15.2 NA NA NA NA rs17452383 0.09 0.09 0.091 0.0828674 0.1243 0.0635 0.0778 0.0847 0.0613 0.12 0.05 0.09 0.09 0.1074 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.643468 1.643468 NA 0.123428 0.091591 NA 0.087 NA 4.9782054 1154 9 14775859 14775859 G A exonic FREM1 NA synonymous SNV FREM1:NM_001177704:exon2:c.C393T:p.A131A,FREM1:NM_144966:exon26:c.C4785T:p.A1595A exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380894:exon2:c.C393T:p.A131A,ENSG00000164946:ENST00000380880:exon25:c.C4785T:p.A1595A,ENSG00000164946:ENST00000380881:exon26:c.C4788T:p.A1596A,ENSG00000164946:ENST00000422223:exon26:c.C4785T:p.A1595A Score=403;Name=lod=58 NA 9p22.3 NA NA NA NA rs10733289 0.41 0.41 0.376 0.416733 0.5845 0.3294 0.4366 0.2905 0.4908 0.59 0.33 0.41 0.23 0.5101 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321385 NA NA 0.593915 0.3596 NA 0.406 NA 4.9781516 1154 7 149558409 149558409 G C exonic ZNF862 NA synonymous SNV ZNF862:NM_001099220:exon7:c.G2160C:p.L720L exonic ENSG00000106479 NA synonymous SNV ENSG00000106479:ENST00000223210:exon7:c.G2160C:p.L720L Score=433;Name=lod=77 NA 7q36.1 NA NA NA NA rs2240361 0.43 0.43 0.419 0.380591 0.5865 0.3284 0.4741 0.2405 0.3456 0.58 0.36 0.49 0.23 0.5024 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.36617 NA NA 0.599643 0.33913 NA 0.464 NA 4.9781236 1154 3 148704618 148704618 T C intergenic CPA3,GYG1 dist=89746;dist=4577 NA NA ncRNA_exonic ENSG00000241627 NA NA NA Score=734;Name=lod=1277 NA 3q24 NA NA NA NA rs62622498 0.01 0.01 0.006 0.0185703 0.0219 0.001 0.0173 0.0008 0.0583 0.03 0.0017 0.03 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726323 NA NA NA NA NA 0.022 NA 4.9781 1154 12 58638450 58638450 C T intergenic XRCC6BP1,LRIG3 dist=287398;dist=627487 NA NA ncRNA_exonic ENSG00000241423 NA NA NA Score=707;Name=lod=1000 NA 12q14.1 NA NA NA NA rs11610099 0.01 0.01 0.008 0.00539137 0.0219 NA 0.0043 NA 0.002 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054313 NA NA NA NA NA 0.007 NA 4.9781 1154 6 131992549 131992549 G A intronic ENPP3 NA NA NA intronic ENSG00000154269 NA NA NA NA NA 6q23.2 NA NA Name=5 NA rs10080319 0.08 0.08 0.09 0.0910543 0.0219 0.001 0.0403 0.2814 0.0337 0.02 NA 0.03 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559229 NA NA NA NA NA 0.13 NA 4.9781 1154 9 140669541 140669541 C T intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs12341990 0.05 0.05 0.052 0.0577077 0.004 NA 0.0202 0.205 NA NA NA 0.02 0.19 0.0165 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.760445 3.760445 NA 0.002093 0.161825 NA 0.08 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082219.1;CLNDSDB=.;CLNDSDBID=. 4.977407 1154 11 59623433 59623433 G A exonic TCN1 NA synonymous SNV TCN1:NM_001062:exon6:c.C846T:p.S282S exonic ENSG00000134827 NA synonymous SNV ENSG00000134827:ENST00000257264:exon6:c.C846T:p.S282S NA NA 11q12.1 NA NA NA NA rs1042613 0.27 0.27 0.276 0.297724 0.2266 0.1607 0.1556 0.5484 0.274 0.22 0.19 0.18 0.48 0.2419 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111149 NA NA 0.220955 0.462517 ID=COSM147255;OCCURENCE=1(stomach) 0.319 NA 4.9772116 1154 4 85465661 85465661 T C intergenic NKX6-1,CDS1 dist=46274;dist=38396 NA NA ncRNA_exonic ENSG00000258013 NA NA NA Score=410;Name=lod=62 NA 4q21.23 NA NA NA NA rs116740990 0.01 0.01 0.008 0.00579073 0.0229 NA 0.0086 NA NA 0.03 NA 0.01 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394255 NA NA NA NA NA NA NA 4.9771 1154 6 132102381 132102381 C G intergenic ENPP3,ENPP1 dist=33831;dist=26775 NA NA ncRNA_exonic ENSG00000216917 NA NA NA Score=777;Name=lod=1917 NA 6q23.2 NA NA NA NA rs79100646 0.01 0.01 0.014 0.0125799 0.0229 NA 0.0086 0.0136 0.0164 0.03 NA 0.01 0.01 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037366 NA NA NA NA NA 0.007 NA 4.9771 1154 16 81941493 81941493 T C intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA Name=NF-YB NA NA rs41311268 0.01 0.01 0.007 0.00738818 0.0229 NA 0.0101 NA 0.0072 0.03 NA 0.0028 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844883 NA NA NA NA NA NA NA 4.9771 1154 20 1703187 1703187 A T intergenic SIRPG,LOC100289473 dist=64762;dist=50824 NA NA upstream ENSG00000234282 NA NA NA NA NA 20p13 NA Name=IRF4_(M-17),BATF,NFKB Name=15 NA rs202513 0.49 0.49 0.48 0.491813 0.5229 0.3681 0.6182 0.5613 0.4039 0.51 0.4 0.56 0.53 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087887 NA NA NA NA NA 0.522 NA 4.9771 1154 19 53945504 53945504 C T ncRNA_exonic TPM3P9 NA NA NA ncRNA_exonic ENSG00000241015 NA NA NA Score=712;Name=lod=1044 NA 19q13.42 NA NA NA NA rs12983857 0.53 0.53 0.481 0.549521 0.6899 0.3948 0.6326 0.3298 0.8027 0.7 0.4 0.63 0.34 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803972 NA NA NA NA NA 0.348 NA 4.9767666 1154 22 42221846 42221846 C T UTR3 CCDC134 NM_024821:c.*19C>T NA NA UTR3 ENSG00000100147 ENST00000255784:c.*19C>T,ENST00000402061:c.*19C>T NA NA NA NA 22q13.2 Score=812;Name=V$AP4_01 NA NA NA rs41277466 0.13 0.13 0.094 0.134385 0.1054 0.0645 0.3761 0.0666 0.1564 0.1 0.06 0.38 0.08 0.1458 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408459 NA NA 0.105698 0.076748 NA 0.13 NA 4.9764354 1154 3 98153043 98153043 G T intergenic OR5K3,OR5K1 dist=42568;dist=35378 NA NA ncRNA_exonic ENSG00000244653 NA NA NA Score=714;Name=lod=1059 NA 3q11.2 NA NA NA NA rs73132679 0.01 0.01 0.008 0.00858626 0.0239 0.002 0.0058 0.0023 0.0102 0.02 0.0017 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124176 NA NA NA NA NA 0.007 NA 4.9761 1154 22 45958694 45958694 C T intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA Name=CTCF_(SC-5916),CTCF NA NA rs743930 0.01 0.01 0.011 0.00638978 0.0239 NA 0.0043 0.0015 0.0031 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026887 NA NA NA NA NA NA NA 4.9761 1154 1 67507914 67507914 C G intronic SLC35D1 NA NA NA intronic ENSG00000116704 NA NA NA Score=496;Name=lod=138 NA 1p31.3 NA NA NA NA rs7539628 0.07 0.07 0.071 0.0726837 0.002 NA 0.0303 0.2579 NA 0.0013 NA 0.04 0.26 0.0207 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26636 1.26636 NA 0.001512 0.2197 NA 0.123 NA 4.975788 1154 11 71604727 71604727 C T ncRNA_intronic LOC100133315 NA NA NA ncRNA_exonic ENSG00000228915 NA NA NA Score=251;Name=lod=14 NA 11q13.4 NA NA NA NA rs526054 0.72 0.72 0.693 0.764577 0.6909 0.6022 0.6499 0.9773 0.8016 0.67 0.59 0.69 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218758 NA NA NA NA NA 0.486 NA 4.9757666 1154 3 7620789 7620789 T C exonic GRM7 NA synonymous SNV GRM7:NM_000844:exon8:c.T2196C:p.Y732Y,GRM7:NM_181874:exon8:c.T2196C:p.Y732Y exonic ENSG00000196277 NA synonymous SNV ENSG00000196277:ENST00000357716:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000389335:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000389336:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000402647:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000403881:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000440923:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000467425:exon8:c.T2196C:p.Y732Y,ENSG00000196277:ENST00000486284:exon8:c.T2196C:p.Y732Y Score=541;Name=lod=211 NA 3p26.1 NA NA NA NA rs1485175 0.55 0.55 0.533 0.525559 0.5835 0.4355 0.5144 0.5703 0.5061 0.6 0.45 0.57 0.56 0.5478 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830914 NA NA 0.559884 0.573763 NA 0.667 NA 4.9754826 1154 17 41231516 41231516 C T intronic BRCA1 NA NA NA ncRNA_exonic ENSG00000240828 NA NA NA Score=732;Name=lod=1259 NA 17q21.31 NA NA NA NA rs8176193 0.33 0.33 0.295 0.353435 0.3579 0.371 0.3746 0.2194 0.4969 0.36 0.33 0.4 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225151 NA NA NA NA NA 0.268 NA 4.9754333 1154 18 6986259 6986259 G A exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon37:c.C5256T:p.H1752H exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon37:c.C5256T:p.H1752H NA NA 18p11.31 NA NA NA NA rs62081531 0.16 0.16 0.156 0.13778 0.2326 0.1915 0.147 0.0068 0.1554 0.24 0.17 0.18 0.01 0.1975 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.395002 NA NA 0.261395 0.052882 ID=COSM148381;OCCURENCE=1(stomach),1(large_intestine) 0.203 NA 4.9751716 1154 3 149181715 149181715 C T intergenic TM4SF1,TM4SF4 dist=86147;dist=10653 NA NA ncRNA_intronic ENSG00000241929 NA NA NA Score=617;Name=lod=428 NA 3q25.1 NA NA NA NA rs147291133 0.02 0.02 0.007 0.0127796 0.0249 NA 0.0533 0.0008 0.001 0.03 NA 0.03 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116335 NA NA NA NA NA 0.007 NA 4.9751 1154 12 122189932 122189932 G A intronic TMEM120B NA NA NA intronic ENSG00000188735 NA NA NA NA NA 12q24.31 NA Name=SP1,HNF4G_(SC-6558) NA NA rs12829306 0.01 0.01 0.01 0.0103834 0.0249 NA 0.036 NA 0.002 0.01 NA 0.04 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610276 NA NA NA NA NA NA NA 4.9751 1154 12 122189933 122189933 C A intronic TMEM120B NA NA NA intronic ENSG00000188735 NA NA NA NA NA 12q24.31 NA Name=HNF4G_(SC-6558) NA NA rs117774076 0.01 0.01 0.01 0.0103834 0.0249 NA 0.036 NA 0.002 0.01 NA 0.04 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542457 NA NA NA NA NA NA NA 4.9751 1154 18 23866528 23866528 G A intronic TAF4B NA NA NA intronic ENSG00000141384 NA NA NA NA NA 18q11.2 Score=859;Name=V$MEIS1AHOXA9_01 NA NA NA rs55819001 0.01 0.01 0.009 0.00758786 0.0249 NA 0.013 NA 0.0041 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408335 NA NA NA NA NA 0.08 NA 4.9751 1155 20 46292149 46292149 T G intronic SULF2 NA NA NA intronic ENSG00000196562 NA NA NA NA NA 20q13.12 NA Name=Pol2 Name=6 NA rs2235734 0.32 0.32 0.313 0.317692 0.336 0.249 0.3775 0.2912 0.363 0.33 0.26 0.4 0.31 0.3298 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233918 NA NA 0.359535 0.29823 NA 0.37 NA 4.974665 1155 6 84799185 84799185 C T exonic MRAP2 NA synonymous SNV MRAP2:NM_138409:exon4:c.C603T:p.H201H exonic ENSG00000135324 NA synonymous SNV ENSG00000135324:ENST00000257776:exon4:c.C603T:p.H201H NA NA 6q14.2 NA NA NA NA rs2875382 0.32 0.32 0.313 0.349241 0.2306 0.1736 0.2666 0.711 0.2219 0.23 0.15 0.28 0.68 0.2521 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473325 NA NA 0.209535 0.644576 ID=COSM150129;OCCURENCE=1(stomach) 0.341 NA 4.9744316 1155 8 110509300 110509300 A T intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA Score=653;Name=lod=600 NA 8q23.2 NA NA NA NA rs57909958 0.01 0.01 0.013 0.0161741 0.008 NA 0.0173 0.0446 0.002 0.01 NA 0.02 0.03 0.0089 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583301 NA NA 0.008828 0.032161 NA NA NA 4.974272 1155 18 45156757 45156757 G A intergenic IER3IP1,SMAD2 dist=454012;dist=202709 NA NA ncRNA_exonic ENSG00000267156 NA NA NA Score=313;Name=lod=25 NA 18q21.1 NA NA NA NA rs148834750 0.01 0.01 0.01 0.00758786 0.0258 NA 0.0159 NA 0.001 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.351573 2.351573 NA NA NA NA 0.007 NA 4.9742 1155 7 18631275 18631275 G A intronic HDAC9 NA NA NA intronic ENSG00000048052 NA NA NA NA NA 7p21.1 Score=796;Name=V$HTF_01 NA NA NA rs150067220 0.0037 0.0037 0.002 0.00199681 0.007 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0069 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691317 NA NA 0.012039 0.00565 NA NA NA 4.974061 1155 3 51350112 51350112 T A intronic DOCK3 NA NA NA intronic ENSG00000088538 NA NA NA NA NA 3p21.2 Score=752;Name=V$MYOGNF1_01 NA NA NA rs113786671 0.01 0.01 0.009 0.00738818 0.0268 NA 0.0043 0.0023 0.0041 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.829197 2.829197 NA NA NA NA NA NA 4.9732 1155 4 19815458 19815458 G A intergenic LCORL,SLIT2 dist=1791975;dist=439777 NA NA ncRNA_exonic ENSG00000241612 NA NA NA Score=752;Name=lod=1514 NA 4p15.31 NA NA NA NA rs75322959 0.08 0.08 0.062 0.0722843 0.0268 0.1905 0.1009 0.0461 0.0123 0.03 0.18 0.08 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378965 1.378965 NA NA NA NA 0.022 NA 4.9732 1155 7 86828471 86828471 C G intronic TMEM243 NA NA NA intronic ENSG00000135185 NA NA NA NA NA 7q21.12 NA NA Name=3 NA rs73208528 0.04 0.04 0.038 0.0347444 0.0268 0.0655 0.0115 0.0492 0.0082 0.03 0.06 0.01 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.085222 NA NA NA NA NA 0.123 NA 4.9732 1155 14 20875973 20875973 A G intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA Name=CEBPB NA NA rs1713438 0.03 0.03 0.041 0.0329473 0.0268 NA 0.0159 0.0832 0.0174 0.03 NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321506 1.321506 NA NA NA NA 0.014 NA 4.9732 1155 16 721536 721536 C T intronic RHOT2 NA NA NA intronic ENSG00000140983 NA NA NA NA NA 16p13.3 NA NA Name=3 NA rs118039913 0.02 0.02 0.028 0.0211661 0.0268 0.0179 0.013 0.0189 0.0276 0.03 0.02 0.01 0.01 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561845 NA NA NA NA NA 0.029 NA 4.9732 1155 11 120976707 120976707 G C intronic TECTA NA NA NA intronic ENSG00000109927 NA NA NA NA NA 11q23.3 NA NA Name=9 NA rs190884840 0.0027 0.0027 NA 0.00698882 0.0089 NA 0.0014 NA 0.0256 0.01 NA 0.0028 NA 0.0093 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.256682 1.256682 NA 0.008956 0.003177 NA NA NA 4.972844 1155 11 118947634 118947634 C T exonic VPS11 NA unknown UNKNOWN exonic ENSG00000160695 NA synonymous SNV ENSG00000160695:ENST00000300793:exon9:c.C1263T:p.Y421Y Score=576;Name=lod=291 NA 11q23.3 NA NA NA NA rs540261 0.46 0.46 0.447 0.431909 0.4811 0.7192 0.2954 0.202 0.4928 0.48 0.75 0.32 0.2 0.4448 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422214 1.422214 NA 0.434644 0.238669 NA 0.442 NA 4.9727893 1155 8 42044954 42044954 G A exonic PLAT NA synonymous SNV PLAT:NM_033011:exon5:c.C363T:p.D121D,PLAT:NM_000930:exon6:c.C501T:p.D167D exonic ENSG00000104368 NA synonymous SNV ENSG00000104368:ENST00000352041:exon5:c.C363T:p.D121D,ENSG00000104368:ENST00000220809:exon6:c.C501T:p.D167D,ENSG00000104368:ENST00000270189:exon6:c.C501T:p.D167D,ENSG00000104368:ENST00000520523:exon6:c.C501T:p.D167D,ENSG00000104368:ENST00000429089:exon7:c.C501T:p.D167D NA NA 8p11.21 Score=829;Name=V$HNF4_01_B NA NA NA rs1058720 0.51 0.51 0.528 0.510783 0.5855 0.504 0.5735 0.348 0.6166 0.59 0.53 0.54 0.36 0.5507 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066261 NA NA 0.558023 0.404448 NA 0.478 NA 4.9724436 1155 5 155935720 155935720 T C intronic SGCD NA NA NA intronic ENSG00000170624 NA NA NA NA NA 5q33.3 NA NA NA NA rs11748588 0.01 0.01 0.006 0.00279553 0.0119 NA 0.0029 NA NA 0.01 NA 0.01 NA 0.0067 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132985 NA NA 0.009144 0.000806 NA 0.007 CLINSIG=non-pathogenic|other;CLNDBN=Cardiomyopathy|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000030451.1|RCV000041404.3;CLNDSDB=MedGen:SNOMED_CT|.;CLNDSDBID=C0878544:85898001|. 4.972256 1155 7 55706218 55706218 T C intergenic VOPP1,FKBP9L dist=66018;dist=42549 NA NA ncRNA_exonic ENSG00000234844 NA NA NA Score=742;Name=lod=1380 NA 7p11.2 NA NA NA NA rs117364612 0.01 0.01 0.011 0.0105831 0.0278 NA 0.013 NA 0.0164 0.02 NA 0.02 NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104885 NA NA NA NA NA 0.014 NA 4.9722 1155 7 138373845 138373845 A G intergenic SVOPL,ATP6V0A4 dist=10055;dist=17194 NA NA ncRNA_exonic ENSG00000243099 NA NA NA Score=769;Name=lod=1777 NA 7q34 NA NA NA NA rs117989956 0.03 0.03 0.035 0.0447284 0.0278 0.0476 0.0461 0.0091 0.1063 0.03 0.05 0.05 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514249 NA NA NA NA NA 0.022 NA 4.9722 1155 10 79744817 79744817 T C intronic POLR3A NA NA NA intronic ENSG00000148606 NA NA NA NA NA 10q22.3 NA NA Name=7 NA rs117990962 0.01 0.01 0.015 0.00978435 0.0278 NA 0.0231 0.0023 0.002 0.03 NA 0.02 0.01 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113828 NA NA NA NA NA 0.022 NA 4.9722 1155 11 40105881 40105881 C T intergenic NONE,LRRC4C dist=NONE;dist=29870 NA NA ncRNA_exonic ENSG00000255347 NA NA NA Score=321;Name=lod=27 NA 11p12 NA NA NA NA rs16934335 0.17 0.17 0.17 0.180711 0.0278 0.2986 0.0965 0.3116 0.0992 0.02 0.28 0.1 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051279 NA NA NA NA NA 0.138 NA 4.9722 1155 20 17936173 17936173 T A intronic SNX5 NA NA NA intronic ENSG00000089006 NA NA NA NA NA 20p11.23 NA NA Name=21 NA rs150515099 0.02 0.02 0.01 0.0131789 0.0278 NA 0.0288 0.0015 0.0164 0.03 NA 0.04 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798942 NA NA NA NA NA 0.029 NA 4.9722 1155 5 43609343 43609343 C T exonic NNT NA synonymous SNV NNT:NM_012343:exon2:c.C46T:p.L16L,NNT:NM_182977:exon2:c.C46T:p.L16L exonic ENSG00000112992 NA synonymous SNV ENSG00000112992:ENST00000264663:exon2:c.C46T:p.L16L,ENSG00000112992:ENST00000344920:exon2:c.C46T:p.L16L,ENSG00000112992:ENST00000505678:exon2:c.C46T:p.L16L,ENSG00000112992:ENST00000512422:exon2:c.C46T:p.L16L Score=284;Name=lod=19 NA 5p12 NA NA NA NA rs10057103 0.54 0.54 0.586 0.558506 0.5885 0.2014 0.451 0.9433 0.4519 0.58 0.19 0.51 0.92 0.5354 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179955 NA NA 0.570581 0.878121 ID=COSM149827;OCCURENCE=1(stomach) 0.696 NA 4.9721856 1155 1 209969902 209969902 G C intronic IRF6 NA NA NA intronic ENSG00000117595 NA NA NA NA NA 1q32.2 NA Name=Pol2(b) Name=7 NA rs7552506 0.27 0.27 0.258 0.270966 0.3469 0.1548 0.2968 0.2413 0.3344 0.35 0.16 0.3 0.23 0.326 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014927 NA NA 0.355116 0.282569 NA 0.406 NA 4.971984 1155 19 38188233 38188233 T G UTR3 ZNF607 NM_001172677:c.*708A>C,NM_032689:c.*708A>C NA NA UTR3 ENSG00000198182 ENST00000355202:c.*708A>C,ENST00000395835:c.*708A>C NA NA Score=735;Name=lod=1289 NA 19q13.12 NA NA NA NA rs55743020 0.19 0.19 0.18 0.173922 0.3618 0.0288 0.2608 0.0598 0.2229 0.37 0.04 0.26 0.05 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320062 NA NA NA NA NA 0.297 NA 4.9715334 1155 5 178555045 178555045 G A exonic ADAMTS2 NA synonymous SNV ADAMTS2:NM_014244:exon17:c.C2532T:p.D844D exonic ENSG00000087116 NA synonymous SNV ENSG00000087116:ENST00000251582:exon17:c.C2532T:p.D844D NA NA 5q35.3 NA NA NA NA rs2303644 0.15 0.15 0.141 0.129992 0.2575 0.1002 0.2061 0.0098 0.138 0.25 0.09 0.2 0.01 0.2028 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647094 NA NA 0.235 0.050386 NA 0.138 NA 4.9713666 1155 7 6974872 6974872 G C intergenic CCZ1B,LOC100131257 dist=108946;dist=140529 NA NA ncRNA_exonic ENSG00000242731 NA NA NA NA NA 7p22.1 NA Name=ERalpha_a NA NA rs117557765 0.09 0.09 0.02 0.0209665 0.0288 NA 0.0259 0.0416 0.0031 0.08 0.08 0.14 0.08 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.85944 NA NA NA NA NA NA NA 4.9712 1155 7 30695397 30695397 C T intronic CRHR2 NA NA NA intronic ENSG00000106113 NA NA NA NA NA 7p14.3 NA NA NA NA NA NA NA NA 0.0163738 0.0288 NA 0.0245 0.0272 NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786048 NA NA NA NA NA 0.036 NA 4.9712 1155 8 2057131 2057131 T G intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA Name=ZNF274 NA NA rs77802404 0.03 0.03 0.029 0.0327476 0.0288 NA 0.0447 0.0772 0.002 0.02 NA 0.05 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112724 NA NA NA NA NA 0.022 NA 4.9712 1155 12 132152061 132152061 G A intergenic LOC116437,SFSWAP dist=454585;dist=43571 NA NA ncRNA_exonic ENSG00000243499 NA NA NA Score=790;Name=lod=2175 NA 12q24.33 NA NA NA NA rs140956418 0.02 0.02 0.013 0.0101837 0.0288 NA 0.0216 0.0023 0.0041 0.03 NA 0.02 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785707 NA NA NA NA NA 0.007 NA 4.9712 1155 22 30442992 30442992 A G intergenic MTMR3,HORMAD2 dist=16135;dist=33461 NA NA ncRNA_exonic ENSG00000227201 NA NA NA Score=612;Name=lod=411 NA 22q12.2 NA NA NA NA rs11704643 0.02 0.02 0.017 0.0113818 0.0288 NA 0.0173 0.0038 0.0112 0.03 NA 0.01 0.01 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785616 NA NA NA NA NA 0.022 NA 4.9712 1155 9 95060490 95060490 T C intronic NOL8 NA NA NA intronic ENSG00000198000 NA NA NA NA NA 9q22.31 NA NA Name=2 NA rs188560839 0.01 0.01 NA 0.00499201 0.0179 NA 0.0043 0.0015 0.002 0.02 NA 0.01 0.002 0.011 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368647 NA NA NA NA NA 0.007 NA 4.9711 1155 7 87179601 87179601 A G exonic ABCB1 NA synonymous SNV ABCB1:NM_000927:exon13:c.T1236C:p.G412G exonic ENSG00000085563 NA synonymous SNV ENSG00000085563:ENST00000543898:exon10:c.T1044C:p.G348G,ENSG00000085563:ENST00000265724:exon13:c.T1236C:p.G412G Score=622;Name=lod=450 NA 7q21.12 NA NA NA NA rs1128503 0.58 0.58 0.594 0.583866 0.5845 0.373 0.5965 0.8638 0.4131 0.57 0.34 0.57 0.86 0.5419 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799699 NA NA 0.569884 0.783931 NA 0.623 NA 4.9703826 1155 6 54489706 54489706 C T intergenic TINAG,FAM83B dist=234756;dist=221863 NA NA ncRNA_exonic ENSG00000220773 NA NA NA Score=793;Name=lod=2233 NA 6p12.1 NA NA NA NA rs9885773 0.02 0.02 0.021 0.0227636 0.0298 NA 0.0144 0.0552 0.001 0.03 NA 0.02 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495375 NA NA NA NA NA 0.022 NA 4.9702 1155 6 154871088 154871088 G A intergenic CNKSR3,SCAF8 dist=39335;dist=183424 NA NA ncRNA_exonic ENSG00000220181 NA NA NA Score=517;Name=lod=168 NA 6q25.2 NA NA NA NA rs76066708 0.04 0.04 0.055 0.0407348 0.0298 0.0496 0.0418 0.053 0.0256 0.03 0.05 0.04 0.05 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067378 NA NA NA NA NA 0.058 NA 4.9702 1155 15 94577262 94577262 G C intergenic RGMA,MCTP2 dist=944819;dist=264168 NA NA ncRNA_exonic ENSG00000258895 NA NA NA Score=677;Name=lod=751 NA 15q26.2 NA NA NA NA rs141679816 0.01 0.01 0.007 0.00878594 0.0298 NA 0.0173 0.0015 NA 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567576 NA NA NA NA NA 0.007 NA 4.9702 1155 17 18922970 18922970 G C intronic SLC5A10 NA NA NA intronic ENSG00000154025 NA NA NA NA NA 17p11.2 NA Name=EBF1_(C-8),Egr-1,ZBTB7A_(SC-34508) NA NA rs12603640 0.11 0.11 0.102 0.146366 0.0298 0.1339 0.0634 0.2988 0.1319 0.03 0.14 0.06 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611915 NA NA NA NA NA 0.152 NA 4.9702 1155 10 128830409 128830409 A G exonic DOCK1 NA synonymous SNV DOCK1:NM_001380:exon18:c.A1674G:p.A558A exonic ENSG00000150760 NA synonymous SNV ENSG00000150760:ENST00000280333:exon18:c.A1674G:p.A558A NA NA 10q26.2 NA NA NA NA rs2229597 0.15 0.15 0.128 0.125998 0.2137 0.0873 0.2003 0.0461 0.1309 0.21 0.09 0.22 0.05 0.2695 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036425 NA NA 0.213438 0.069357 NA 0.167 NA 4.9700286 1155 9 125330739 125330739 G A exonic OR1L8 NA synonymous SNV OR1L8:NM_001004454:exon1:c.C18T:p.H6H exonic ENSG00000171496 NA synonymous SNV ENSG00000171496:ENST00000304865:exon1:c.C18T:p.H6H Score=417;Name=lod=66 NA 9q33.2 NA NA NA NA rs1999182 0.65 0.65 0.631 0.632388 0.5467 0.9792 0.6124 0.4811 0.5818 0.53 0.99 0.62 0.47 0.5903 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548936 NA NA 0.559651 0.495234 NA 0.471 NA 4.9700156 1155 16 57015545 57015545 C T intronic CETP NA NA NA intronic ENSG00000087237 NA NA NA NA NA 16q13 NA Name=EBF1_(C-8),EBF Name=13 NA rs1800774 0.27 0.27 0.259 0.266973 0.3509 0.127 0.3242 0.2526 0.3037 0.35 0.12 0.32 0.28 0.3232 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420346 NA NA 0.356395 0.267971 NA 0.37 NA 4.969505 1155 1 224486305 224486305 G C intronic NVL NA NA NA intronic ENSG00000143748 NA NA NA Score=529;Name=lod=188 NA 1q42.11 NA NA NA NA rs3767722 0.05 0.05 0.046 0.0503195 0.0308 0.1101 0.0159 0.0166 0.0787 0.03 0.1 0.02 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038795 NA NA NA NA NA 0.014 NA 4.9692 1155 12 42825887 42825887 C G intronic PPHLN1 NA NA NA ncRNA_exonic ENSG00000257376 NA NA NA Score=748;Name=lod=1468 NA 12q12 NA NA NA NA rs1669890 0.3 0.3 0.242 0.250599 0.3648 0.255 0.3862 0.0779 0.2658 0.37 0.29 0.43 0.09 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.126321 NA NA NA NA ID=COSN164219;OCCURENCE=1(breast) 0.246 NA 4.9685333 1155 3 49836707 49836707 G A exonic CDHR4 NA synonymous SNV CDHR4:NM_001007540:exon2:c.C213T:p.A71A exonic ENSG00000187492 NA synonymous SNV ENSG00000187492:ENST00000343366:exon2:c.C213T:p.A71A,ENSG00000187492:ENST00000412678:exon2:c.C213T:p.A71A,ENSG00000187492:ENST00000487256:exon2:c.C213T:p.A71A NA NA 3p21.31 NA NA NA NA rs7629936 0.21 0.21 0.226 0.233227 0.2386 0.1488 0.1844 0.2632 0.3088 0.23 0.16 0.17 0.23 0.2291 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739707 NA NA 0.230613 0.23497 ID=COSM1424032;OCCURENCE=1(large_intestine) 0.159 NA 4.9683536 1155 11 12315848 12315848 C T exonic MICALCL NA synonymous SNV MICALCL:NM_032867:exon3:c.C870T:p.G290G exonic ENSG00000133808 NA synonymous SNV ENSG00000133808:ENST00000256186:exon3:c.C870T:p.G290G NA NA 11p15.3 NA NA NA NA rs1493952 0.44 0.44 0.452 NA NA NA NA NA NA 0.32 0.53 0.4 0.54 0.3809 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389359 NA NA 0.317464 0.517986 NA 0.428 NA 4.9683026 1155 12 122497001 122497001 T C exonic BCL7A NA synonymous SNV BCL7A:NM_001024808:exon6:c.T565C:p.L189L,BCL7A:NM_020993:exon6:c.T628C:p.L210L exonic ENSG00000110987 NA synonymous SNV ENSG00000110987:ENST00000261822:exon6:c.T565C:p.L189L,ENSG00000110987:ENST00000538010:exon6:c.T628C:p.L210L Score=412;Name=lod=63 NA 12q24.31 NA NA NA NA rs28629903 0.51 0.51 0.474 0.505391 0.5795 0.4921 0.6196 0.3487 0.5736 0.58 0.53 0.59 0.35 0.5588 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188278 NA NA 0.560116 0.378348 NA 0.435 NA 4.9682506 1155 4 40338079 40338079 G A intronic CHRNA9 NA NA NA intronic ENSG00000174343 NA NA NA NA NA 4p14 NA NA Name=6 NA rs55893318 0.01 0.01 0.003 0.0129792 0.0318 NA 0.013 NA 0.0245 0.03 NA 0.02 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632576 NA NA NA NA NA NA NA 4.9682 1155 22 44341986 44341986 T C intronic PNPLA3 NA NA NA intronic ENSG00000100344 NA NA NA NA NA 22q13.31 NA Name=CTCF_(C-20),c-Myc,CTCF_(SC-5916),CTCF,Rad21,SMC3_(ab9263),E2F6_(H-50),CTCFL_(SC-98982),Znf143_(16618-1-AP) Name=138 NA rs2294917 0.35 0.35 0.331 0.375399 0.3509 0.4325 0.2666 0.3177 0.4969 0.37 0.4 0.28 0.32 0.3487 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52946 NA NA 0.332674 0.319255 NA 0.341 NA 4.967726 1155 10 5541183 5541183 C T exonic CALML5 NA synonymous SNV CALML5:NM_017422:exon1:c.G219A:p.A73A exonic ENSG00000178372 NA synonymous SNV ENSG00000178372:ENST00000380332:exon1:c.G219A:p.A73A NA NA 10p15.1 NA NA NA NA rs10904517 0.35 0.35 0.034 0.355431 0.3231 0.3065 0.2334 0.5182 0.3057 0.32 0.29 0.25 0.52 0.3348 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505298 NA NA 0.041163 0.092374 ID=COSM1561299;OCCURENCE=1(large_intestine) NA NA 4.9676036 1155 7 64292695 64292695 G A UTR3 ZNF138 NM_006524:c.*115G>A,NM_001271649:c.*115G>A,NM_001160183:c.*831G>A,NM_001271640:c.*831G>A,NM_001271638:c.*115G>A,NM_001271637:c.*890G>A,NM_001271639:c.*115G>A NA NA UTR3 ENSG00000197008 ENST00000359735:c.*115G>A,ENST00000437743:c.*115G>A,ENST00000440598:c.*890G>A,ENST00000397136:c.*115G>A NA NA NA NA 7q11.21 NA NA Name=5 NA rs6460195 0.26 0.26 0.225 0.239217 0.3658 0.1617 0.3314 0.1165 0.2894 0.35 0.18 0.35 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765395 NA NA NA NA NA 0.362 NA 4.9675334 1155 5 178999658 178999658 A G intronic RUFY1 NA NA NA ncRNA_exonic ENSG00000249140 NA NA NA Score=476;Name=lod=115 NA 5q35.3 NA NA NA NA rs7447429 0.49 0.49 0.472 0.486821 0.3658 0.7312 0.513 0.3888 0.4734 0.35 0.74 0.5 0.39 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138476 NA NA NA NA NA 0.399 NA 4.9675333 1155 6 41121974 41121974 T C intronic TREML1 NA NA NA intronic ENSG00000161911 NA NA NA NA NA 6p21.1 NA NA Name=9 NA rs41273762 0.0037 0.0037 0.008 0.0191693 0.0119 0.005 0.0029 NA 0.0787 0.01 0.0035 NA NA 0.0137 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.02805 2.02805 NA 0.007093 0.001135 NA NA NA 4.967307 1155 19 40171396 40171396 G C ncRNA_intronic LGALS17A NA NA NA ncRNA_intronic ENSG00000226025 NA NA NA NA NA 19q13.2 NA Name=NFKB,Pol2-4H8 NA NA rs7253676 0.77 0.77 0.777 0.724241 0.6998 0.8185 0.7147 0.7716 0.5951 0.7 0.82 0.74 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.16917 NA NA NA NA NA 0.804 NA 4.9668666 1155 1 228494696 228494696 G A exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon45:c.G12021A:p.A4007A,OBSCN:NM_052843:exon45:c.G12021A:p.A4007A,OBSCN:NM_001271223:exon56:c.G14892A:p.A4964A exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon45:c.G12021A:p.A4007A,ENSG00000154358:ENST00000366709:exon45:c.G3378A:p.A1126A,ENSG00000154358:ENST00000422127:exon45:c.G12021A:p.A4007A,ENSG00000154358:ENST00000366707:exon51:c.G4923A:p.A1641A,ENSG00000154358:ENST00000570156:exon56:c.G14892A:p.A4964A NA NA 1q42.13 NA NA NA NA rs4653939 0.33 0.33 0.3 0.308506 0.1869 0.497 0.2925 0.3714 0.1656 0.2 0.5 0.3 0.37 0.3186 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240287 NA NA 0.194496 0.372311 NA 0.29 NA 4.9666706 1155 18 319935 319935 T C UTR3 COLEC12 NM_130386:c.*110A>G NA NA UTR3 ENSG00000158270 ENST00000400256:c.*110A>G NA NA Score=403;Name=lod=58 NA 18p11.32 NA NA NA NA rs12190 0.27 0.27 0.23 0.265575 0.3668 0.0883 0.2622 0.3427 0.2423 0.37 0.07 0.29 0.31 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147137 NA NA NA NA NA 0.304 NA 4.9665334 1155 1 233424788 233424788 T G intronic PCNXL2 NA NA NA ncRNA_exonic ENSG00000231940 NA NA NA Score=768;Name=lod=1761 NA 1q42.2 NA NA NA NA rs1294329 0.3 0.3 0.296 0.364617 0.3668 0.1696 0.245 0.4955 0.4714 0.34 0.14 0.24 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052295 NA NA NA NA NA 0.283 NA 4.9665333 1155 6 150116798 150116798 C T intronic PCMT1 NA NA NA ncRNA_exonic ENSG00000219433 NA NA NA Score=707;Name=lod=996 NA 6q25.1 NA NA NA NA rs3805753 0.64 0.64 0.627 0.666933 0.3668 0.8343 0.6715 0.9009 0.4836 0.35 0.8 0.63 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370959 NA NA NA NA NA 0.71 NA 4.9665333 1155 9 19424010 19424010 G A intronic ACER2 NA NA NA intronic ENSG00000177076 NA NA NA NA NA 9p22.1 NA NA Name=3 NA rs78074656 0.02 0.02 0.029 0.0333466 0.0109 NA 0.013 0.0953 0.0215 0.01 NA 0.01 0.09 0.0144 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795541 NA NA 0.008256 0.073536 NA 0.029 NA 4.966444 1155 3 196746629 196746629 T C exonic MFI2 NA synonymous SNV MFI2:NM_033316:exon7:c.A756G:p.E252E exonic ENSG00000163975 NA synonymous SNV ENSG00000163975:ENST00000296351:exon7:c.A756G:p.E252E NA NA 3q29 NA NA NA NA rs1056664 0.28 0.28 0.259 0.266374 0.2266 0.2847 0.3444 0.2844 0.2086 0.21 0.29 0.36 0.33 0.2515 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425133 NA NA 0.222326 0.27281 NA 0.225 NA 4.9662406 1155 20 61389569 61389569 C G intronic NTSR1 NA NA NA intronic ENSG00000101188 NA NA NA NA NA 20q13.33 NA Name=E2F6_(H-50) NA NA rs62198382 0.41 0.41 0.02 0.0457268 0.0338 0.0278 0.0346 0.0348 0.0992 0.4 0.51 0.46 0.26 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214401 NA NA NA NA NA NA NA 4.9662 1155 6 2675271 2675271 C T intronic MYLK4 NA NA NA intronic ENSG00000145949 NA NA NA NA NA 6p25.2 NA Name=PU.1 Name=2 NA rs9328114 0.23 0.23 0.237 0.217252 0.3579 0.0734 0.183 0.2186 0.2434 0.36 0.07 0.21 0.22 0.3014 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818344 NA NA 0.374651 0.247844 NA 0.261 NA 4.966049 1155 19 45004305 45004305 G C UTR5 ZNF180 NM_013256:c.-13C>G NA NA UTR5 ENSG00000167384 ENST00000221327:c.-13C>G,ENST00000391956:c.-13C>G,ENST00000590088:c.-13C>G,ENST00000587047:c.-13C>G NA NA NA NA 19q13.31 NA Name=Pol2,E2F6,E2F6_(H-50),TAF1,E2F4,EBF1_(C-8),ELF1_(SC-631),Sin3Ak-20,HA-E2F1,GATA-2,Pol2-4H8,E2F1,Nrf1,c-Myc,ZBTB7A_(SC-34508) Name=148 NA rs12977470 0.34 0.34 0.322 0.347644 0.4453 0.3929 0.3934 0.0567 0.5613 0.43 0.37 0.45 0.07 0.4268 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936235 NA NA 0.495233 0.128915 NA 0.254 NA 4.9660004 1155 11 102826539 102826539 C T upstream MMP13 NA NA NA upstream ENSG00000137745 NA NA NA NA NA 11q22.2 NA Name=MafK_(SC-477),MafF_(M8194),JunD,MafK_(ab50322) Name=28 NA rs2252070 0.64 0.64 0.619 0.635982 0.7008 0.497 0.6484 0.7186 0.592 0.7 0.5 0.64 0.7 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357462 NA NA NA NA NA 0.768 NA 4.9658666 1155 16 21216992 21216992 A G intronic ZP2 NA NA NA ncRNA_intronic ENSG00000262983 NA NA NA NA NA 16p12.2 NA Name=HNF4G_(SC-6558),HNF4A_(H-171) NA NA rs2242551 0.13 0.13 0.132 0.112819 0.1988 0.1706 0.0836 0.0076 0.1278 0.19 0.16 0.1 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408284 NA NA 0.168762 0.028902 NA 0.101 NA 4.9657713 1155 11 7022038 7022038 A G exonic ZNF214 NA synonymous SNV ZNF214:NM_013249:exon3:c.T876C:p.F292F exonic ENSG00000149050 NA synonymous SNV ENSG00000149050:ENST00000278314:exon3:c.T876C:p.F292F,ENSG00000149050:ENST00000536068:exon4:c.T876C:p.F292F NA NA 11p15.4 NA NA NA NA rs12575236 0.19 0.19 0.146 0.20028 0.2266 0.2431 0.3055 0.0121 0.3088 0.23 0.25 0.25 0.02 0.237 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402883 NA NA 0.237308 0.047955 NA 0.159 NA 4.9657586 1155 11 119054488 119054488 C T UTR3 NLRX1 NM_024618:c.*340C>T NA NA UTR3 ENSG00000160703 ENST00000409991:c.*340C>T,ENST00000292199:c.*340C>T,ENST00000409109:c.*340C>T NA NA NA NA 11q23.3 NA NA NA NA rs10790286 0.53 0.53 0.534 0.511781 0.4642 0.6518 0.366 0.5703 0.4407 0.45 0.66 0.4 0.59 0.4648 0.66 0 D . . . . . . 1.000 P . . . . -0.949 T 0.000 T . 0.943 8.846 -0.495 -0.471 -0.453 5.297 0.943467 NA NA 0.438638 0.525407 NA 0.63 NA 4.9656954 1155 19 51984725 51984725 T A exonic CEACAM18 NA nonsynonymous SNV CEACAM18:NM_001080405:exon4:c.T662A:p.L221H exonic ENSG00000213822 NA nonsynonymous SNV ENSG00000213822:ENST00000396477:exon3:c.T479A:p.L160H,ENSG00000213822:ENST00000451626:exon4:c.T662A:p.L221H NA NA 19q13.41 NA NA NA NA rs8106673 0.86 0.86 0.844 0.887181 0.7684 0.9246 0.853 0.9637 0.8916 0.76 0.92 0.84 0.94 0.8253 0.94 0.57 T 0.001 B 0.002 B . . 1.000 P 0.87 L 3.49 T -1.032 T 0.000 T 0.059 -1.02 0.232 1.71 0.043 0.025 5.394 -1.019999 NA 0.53 0.774067 0.932191 NA 0.877 NA 4.9655664 1155 1 212482852 212482852 C T intronic PPP2R5A NA NA NA ncRNA_exonic ENSG00000225338 NA NA NA Score=753;Name=lod=1537 NA 1q32.3 NA NA NA NA rs351380 0.3 0.3 0.278 0.282149 0.3678 0.2837 0.3516 0.1543 0.316 0.37 0.3 0.35 0.16 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.366555 1.366555 NA NA NA NA 0.239 NA 4.9655333 1155 7 89975920 89975920 T A upstream GTPBP10 NA NA NA intronic ENSG00000105793 NA NA NA NA NA 7q21.13 NA Name=CTCF_(SC-5916),RFX5_(N-494),YY1,Egr-1,HA-E2F1,Sin3Ak-20,GATA-2,Pol2-4H8,JunD,FOSL2,GTF2B,Nrf1,TBP,IRF1,CCNT2,c-Myc,ZEB1_(SC-25388),NFKB,PAX5-C20,PAX5-N19,SETDB1,SRF,CTCF_(C-20),SIX5,Pol2,PU.1,Mxi1_(bHLH),ATF3,SP1,NRSF,TCF4,SMC3_(ab9263),CtBP2,YY1_(C-20),BRCA1_(C-1863),GATA3_(SC-268),IRF4_(M-17),eGFP-JunD,E2F6,USF1_(SC-8983),GATA-1,TAF1,E2F6_(H-50),CTCFL_(SC-98982),Znf143_(16618-1-AP),E2F4,GABP,HMGN3,CTCF,CEBPB,GTF2F1_(RAP-74),Max,Rad21,ELF1_(SC-631) Name=147 NA rs42646 0.94 0.94 0.924 0.948283 0.8678 0.999 0.9035 0.9894 0.955 0.88 1 0.89 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194452 NA NA NA NA NA 0.92 NA 4.9655333 1155 19 57647015 57647015 A G exonic ZIM3 NA synonymous SNV ZIM3:NM_052882:exon5:c.T690C:p.N230N exonic ENSG00000141946 NA synonymous SNV ENSG00000141946:ENST00000269834:exon5:c.T690C:p.N230N Score=361;Name=lod=39 NA 19q13.43 NA NA NA NA rs7251328 0.64 0.64 0.625 0.649361 0.5507 0.7649 0.6225 0.652 0.6472 0.54 0.78 0.63 0.62 0.5951 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740756 NA NA 0.555349 0.650704 NA 0.529 NA 4.9655176 1155 1 29189597 29189597 C T exonic OPRD1 NA synonymous SNV OPRD1:NM_000911:exon3:c.C921T:p.G307G exonic ENSG00000116329 NA synonymous SNV ENSG00000116329:ENST00000234961:exon3:c.C921T:p.G307G Score=635;Name=lod=509 NA 1p35.3 NA NA NA NA rs2234918 0.59 0.59 0.56 0.58127 0.5726 0.754 0.7032 0.3056 0.6984 0.57 0.8 0.69 0.31 0.5918 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208784 NA NA 0.536977 0.342189 ID=COSM1560682;OCCURENCE=1(large_intestine) 0.457 NA 4.9652896 1155 1 22649487 22649487 G A intergenic WNT4,ZBTB40 dist=179968;dist=128857 NA NA ncRNA_exonic ENSG00000234397 NA NA NA Score=668;Name=lod=689 NA 1p36.12 NA NA NA NA rs11580218 NA NA NA 0.0131789 0.0348 NA 0.0187 0.0076 0.0082 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016053 NA NA NA NA NA 0.022 NA 4.9652 1155 1 224468986 224468986 C T intronic NVL NA NA NA intronic ENSG00000143748 NA NA NA Score=278;Name=lod=18 NA 1q42.11 NA NA NA NA rs112070546 NA NA NA 0.101637 0.0348 0.1141 0.0418 0.1377 0.1513 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137901 NA NA NA NA NA 0.022 NA 4.9652 1155 10 116067461 116067461 C T intronic AFAP1L2 NA NA NA intronic ENSG00000169129 NA NA NA NA NA 10q25.3 NA NA Name=6 NA rs2286397 0.15 0.15 0.151 0.136781 0.0348 0.2113 0.0432 0.2897 0.0245 0.04 0.23 0.05 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12932 NA NA NA NA NA 0.123 NA 4.9652 1156 2 242610738 242610738 T C exonic ATG4B NA synonymous SNV ATG4B:NM_013325:exon12:c.T1026C:p.L342L,ATG4B:NM_178326:exon12:c.T1026C:p.L342L exonic ENSG00000168397 NA synonymous SNV ENSG00000168397:ENST00000428861:exon5:c.T537C:p.L179L,ENSG00000168397:ENST00000402096:exon12:c.T804C:p.L268L,ENSG00000168397:ENST00000404914:exon12:c.T1026C:p.L342L,ENSG00000168397:ENST00000405546:exon12:c.T1026C:p.L342L,ENSG00000168397:ENST00000396411:exon13:c.T804C:p.L268L,ENSG00000168397:ENST00000474739:exon13:c.T984C:p.L328L NA NA 2q37.3 NA NA NA NA rs11538896 0.22 0.22 0.187 0.205072 0.2336 0.2966 0.2089 0.0787 0.2495 0.25 0.31 0.21 0.1 0.2465 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12653 NA NA 0.221907 0.096676 NA 0.217 NA 4.9646596 1156 20 17497769 17497769 G A intronic BFSP1 NA NA NA ncRNA_exonic ENSG00000232333 NA NA NA Score=763;Name=lod=1676 NA 20p12.1 NA NA NA NA rs2023224 0.41 0.41 0.358 0.422524 0.3688 0.3988 0.4063 0.4803 0.4356 0.37 0.4 0.4 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288565 NA NA NA NA NA 0.37 NA 4.9645333 1156 17 3844787 3844787 C G exonic ATP2A3 NA synonymous SNV ATP2A3:NM_005173:exon13:c.G1707C:p.A569A,ATP2A3:NM_174953:exon13:c.G1707C:p.A569A,ATP2A3:NM_174954:exon13:c.G1707C:p.A569A,ATP2A3:NM_174955:exon13:c.G1707C:p.A569A,ATP2A3:NM_174956:exon13:c.G1707C:p.A569A,ATP2A3:NM_174957:exon13:c.G1707C:p.A569A,ATP2A3:NM_174958:exon13:c.G1707C:p.A569A exonic ENSG00000074370 NA synonymous SNV ENSG00000074370:ENST00000309890:exon13:c.G1707C:p.A569A,ENSG00000074370:ENST00000352011:exon13:c.G1707C:p.A569A,ENSG00000074370:ENST00000359983:exon13:c.G1707C:p.A569A,ENSG00000074370:ENST00000397035:exon13:c.G1707C:p.A569A,ENSG00000074370:ENST00000397041:exon13:c.G1707C:p.A569A,ENSG00000074370:ENST00000397043:exon13:c.G1707C:p.A569A NA NA 17p13.2 NA NA NA NA rs1800912 0.17 0.17 0.134 0.147963 0.2515 0.004 0.2637 0.1589 0.093 0.27 0.0035 0.26 0.13 0.2041 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612015 NA NA 0.246744 0.176123 NA 0.21 NA 4.9643226 1156 21 42845374 42845374 G A exonic TMPRSS2 NA synonymous SNV TMPRSS2:NM_001135099:exon9:c.C888T:p.G296G,TMPRSS2:NM_005656:exon9:c.C777T:p.G259G exonic ENSG00000184012 NA synonymous SNV ENSG00000184012:ENST00000424093:exon8:c.C657T:p.G219G,ENSG00000184012:ENST00000332149:exon9:c.C777T:p.G259G,ENSG00000184012:ENST00000398585:exon9:c.C888T:p.G296G,ENSG00000184012:ENST00000458356:exon9:c.C777T:p.G259G,ENSG00000184012:ENST00000454499:exon10:c.C777T:p.G259G NA NA 21q22.3 NA NA NA NA rs2298659 0.24 0.24 0.24 0.209465 0.2296 0.249 0.2176 0.1747 0.1892 0.25 0.3 0.2 0.18 0.2554 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360879 NA NA 0.217457 0.185695 ID=COSM444509,COSM444508,COSM1483963;OCCURENCE=1(breast) 0.13 NA 4.9642096 1156 3 14220517 14220517 C G intronic LSM3 NA NA NA intronic ENSG00000170860 NA NA NA NA NA 3p25.1 NA Name=CHD2_(N-1250),TBP,Oct-2,NFKB,Pol2-4H8,YY1,Pol2,POU2F2,Pol2(b) NA NA rs3731054 0.13 0.13 0.105 0.128395 0.0358 0.4107 0.1124 0.0015 0.1155 0.04 0.36 0.09 0.0041 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786554 NA NA NA NA NA 0.036 NA 4.9642 1156 20 62701092 62701092 A C intronic TCEA2 NA NA NA intronic ENSG00000171703 NA NA NA NA NA 20q13.33 NA Name=CTCF,Max,USF2 Name=54 NA rs4809393 0.32 0.32 0.324 0.375599 0.33 0.2272 0.3156 0.4463 0.5225 0.33 0.25 0.32 0.41 0.3626 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310256 NA NA 0.343256 0.423967 NA 0.254 NA 4.964144 1156 17 53158492 53158492 G A exonic STXBP4 NA synonymous SNV STXBP4:NM_178509:exon16:c.G1437A:p.A479A exonic ENSG00000166263 NA synonymous SNV ENSG00000166263:ENST00000434978:exon15:c.G1371A:p.A457A,ENSG00000166263:ENST00000376352:exon16:c.G1437A:p.A479A NA NA 17q22 NA NA NA NA rs8069999 0.19 0.19 0.194 0.189097 0.2455 0.2431 0.1484 0.0613 0.2771 0.25 0.22 0.17 0.08 0.2275 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.3542 NA NA 0.229767 0.076487 NA 0.239 NA 4.9638996 1156 14 59792842 59792842 T G intronic DAAM1 NA NA NA intronic ENSG00000100592 NA NA NA NA NA 14q23.1 NA NA Name=54 NA rs150651346 0.01 0.01 0.006 0.00519169 0.0159 NA 0.0115 NA 0.002 0.02 NA 0.01 NA 0.0086 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551622 NA NA 0.011628 0.001589 NA 0.007 NA 4.963872 1156 10 124800853 124800853 C T exonic ACADSB NA synonymous SNV ACADSB:NM_001609:exon5:c.C639T:p.H213H exonic ENSG00000196177 NA synonymous SNV ENSG00000196177:ENST00000368869:exon4:c.C333T:p.H111H,ENSG00000196177:ENST00000358776:exon5:c.C639T:p.H213H NA NA 10q26.13 NA NA NA NA rs1140591 0.2 0.2 0.2 0.227835 0.2296 0.1419 0.2176 0.2163 0.3374 0.23 0.14 0.2 0.23 0.2388 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053219 NA NA 0.234535 0.215615 NA 0.138 NA 4.9637316 1156 15 42820589 42820589 G A exonic SNAP23 NA synonymous SNV SNAP23:NM_003825:exon6:c.G396A:p.T132T exonic ENSG00000092531 NA synonymous SNV ENSG00000092531:ENST00000566327:exon5:c.G267A:p.T89T,ENSG00000092531:ENST00000249647:exon6:c.G396A:p.T132T NA NA 15q15.2 NA NA NA NA rs1060291 0.25 0.25 0.295 0.282748 0.2227 0.0079 0.2061 0.6611 0.1708 0.21 0.0035 0.22 0.63 0.2377 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3197 NA NA 0.242615 0.582615 NA 0.297 NA 4.9636516 1156 13 43788036 43788036 T G UTR3 ENOX1 NM_001242863:c.*90A>C,NM_017993:c.*90A>C,NM_001127615:c.*90A>C NA NA UTR3 ENSG00000120658 ENST00000261488:c.*90A>C,ENST00000412891:c.*90A>C NA NA NA NA 13q14.11 NA NA Name=3 NA rs703206 0.49 0.49 0.49 0.509984 0.3698 0.4554 0.5331 0.7375 0.3865 0.37 0.45 0.49 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674067 NA NA NA NA NA 0.609 NA 4.9635334 1156 19 58419841 58419841 G T UTR3 ZNF417 NM_152475:c.*77C>A NA NA UTR3 ENSG00000173480 ENST00000312026:c.*77C>A,ENST00000536263:c.*77C>A NA NA Score=378;Name=lod=46 NA 19q13.43 NA NA NA NA rs10414704 0.31 0.31 0.303 0.311502 0.3698 0.2847 0.2867 0.2958 0.318 0.37 0.25 0.31 0.29 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.09275 NA NA NA NA NA 0.341 NA 4.9635334 1156 13 48337770 48337770 T C intergenic HTR2A,SUCLA2 dist=866559;dist=179021 NA NA ncRNA_exonic ENSG00000234145 NA NA NA Score=693;Name=lod=872 NA 13q14.2 NA NA NA NA rs141670660 0.02 0.02 0.015 0.0111821 0.0368 0.001 0.0187 0.0008 0.0041 0.04 0.0017 0.02 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468832 NA NA NA NA NA 0.022 NA 4.9632 1156 19 22793164 22793164 C T intergenic LOC440518,ZNF492 dist=6812;dist=23962 NA NA ncRNA_exonic ENSG00000269316 NA NA NA Score=747;Name=lod=1450 NA 19p12 NA NA NA NA rs8111709 0.09 0.09 0.09 0.0934505 0.0368 0.0565 0.1354 0.1861 0.0348 0.04 0.07 0.11 0.18 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.300926 NA NA NA NA NA 0.138 NA 4.9632 1156 6 25914801 25914801 G A intronic SLC17A2 NA NA NA exonic ENSG00000112337 NA nonsynonymous SNV ENSG00000112337:ENST00000265425:exon10:c.C1309T:p.P437S NA NA 6p22.2 NA NA NA NA rs2071299 0.43 0.43 0.366 0.40016 0.4026 0.6964 0.4568 0.143 0.3998 0.39 0.71 0.41 0.16 0.4112 0.71 0.82 T . . . . . . 0.424 P . . 0.3 T -1.033 T 0.024 T 0.052 0.806 8.236 1.68 0.366 0.040 3.143 0.805778 NA 0.79 0.389767 0.185656 NA 0.246 NA 4.9630997 1156 3 195515568 195515568 C T exonic MUC4 NA synonymous SNV MUC4:NM_018406:exon2:c.G2883A:p.G961G exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000462323:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000463781:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000466475:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000470451:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000475231:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000477086:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000477756:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000478156:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000479406:exon2:c.G2883A:p.G961G,ENSG00000145113:ENST00000480843:exon2:c.G2883A:p.G961G NA NA 3q29 NA NA NA NA rs62282504 0.21 0.21 0.236 0.198882 0.2584 0.0516 0.1484 0.3283 0.1503 0.26 0.07 0.17 0.33 0.2107 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159131 NA NA 0.234624 0.278719 NA 0.225 NA 4.9629426 1156 1 207850879 207850879 C T exonic CR1L NA synonymous SNV CR1L:NM_175710:exon2:c.C243T:p.N81N exonic ENSG00000197721 NA synonymous SNV ENSG00000197721:ENST00000294997:exon1:c.C75T:p.N25N,ENSG00000197721:ENST00000508064:exon2:c.C243T:p.N81N NA NA 1q32.2 NA NA NA NA rs34509370 0.14 0.14 0.105 0.106829 0.2525 0.0327 0.1441 0.034 0.1053 0.25 0.04 0.18 0.03 0.1873 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106447 NA NA 0.264511 0.069641 NA 0.051 NA 4.9623556 1156 14 22314985 22314985 T C intergenic OR4E2,DAD1 dist=180747;dist=718822 NA NA exonic ENSG00000211786 NA synonymous SNV ENSG00000211786:ENST00000390434:exon1:c.T42C:p.T14T NA NA 14q11.2 NA Name=CTCF NA NA rs34825426 0.3 0.3 0.275 0.329273 0.1491 0.5288 0.255 0.3306 0.3599 0.15 0.51 0.23 0.35 0.2394 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071813 NA NA 0.149287 0.283367 NA 0.232 NA 4.962213 1156 17 52031925 52031925 G A intergenic KIF2B,TOM1L1 dist=129352;dist=946127 NA NA ncRNA_exonic ENSG00000263189 NA NA NA Score=393;Name=lod=53 NA 17q22 NA NA NA NA rs79600152 0.02 0.02 0.017 0.0105831 0.0378 NA 0.0187 0.0008 0.001 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.164043 NA NA NA NA NA 0.007 NA 4.9622 1156 19 6677799 6677799 G A downstream C3 NA NA NA UTR3 ENSG00000125730 ENST00000245907:c.*94C>T NA NA NA NA 19p13.3 NA Name=ZNF263 NA NA rs11569585 0.04 0.04 0.037 0.0477236 0.0378 0.006 0.0259 0.0915 0.0573 0.04 0.01 0.03 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.744021 NA NA NA NA NA 0.043 NA 4.9622 1156 15 64263795 64263795 G A intronic DAPK2 NA NA NA intronic ENSG00000035664 NA NA NA NA NA 15q22.31 NA Name=EBF,EBF1_(C-8) Name=14 NA rs7180057 0.2 0.2 0.146 0.158546 0.3767 0.0079 0.3746 0.0514 0.0808 0.37 0.01 0.37 0.05 0.282 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.055949 NA NA 0.379274 0.108538 NA 0.145 NA 4.962026 1156 1 161577669 161577669 G A ncRNA_exonic HSPA7 NA NA NA ncRNA_exonic ENSG00000225217 NA NA NA Score=790;Name=lod=2164 NA 1q23.3 NA NA NA NA rs61802307 0.67 0.67 0.66 0.662141 0.7048 0.6577 0.7392 0.6195 0.6258 0.7 0.66 0.71 0.6 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268918 1.268918 NA NA NA NA 0.536 NA 4.9618666 1156 19 12768843 12768843 G T intronic MAN2B1 NA NA NA intronic ENSG00000104774 NA NA NA NA NA 19p13.2 NA Name=CTCF Name=2 NA rs34324185 0.21 0.21 0.2 0.181909 0.3817 0.0615 0.232 0.0772 0.2065 0.37 0.05 0.27 0.08 0.2813 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41549 NA NA 0.375349 0.114668 NA 0.232 NA 4.961651 1156 22 30733111 30733111 C A exonic SF3A1 NA synonymous SNV SF3A1:NM_001005409:exon13:c.G1815T:p.V605V,SF3A1:NM_005877:exon13:c.G2010T:p.V670V exonic ENSG00000099995 NA synonymous SNV ENSG00000099995:ENST00000215793:exon13:c.G2010T:p.V670V,ENSG00000099995:ENST00000439242:exon13:c.G1815T:p.V605V NA NA 22q12.2 NA NA NA NA rs2229807 0.18 0.18 0.184 0.153554 0.2535 0.1448 0.1556 0.1331 0.0859 0.24 0.12 0.17 0.14 0.1967 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864266 NA NA 0.255 0.151384 NA 0.275 NA 4.9614666 1156 2 53713338 53713338 G A intergenic NONE,ASB3 dist=NONE;dist=183779 NA NA ncRNA_exonic ENSG00000223897 NA NA NA Score=435;Name=lod=78 NA 2p16.2 NA NA NA NA rs75179446 0.04 0.04 0.027 0.0403355 0.0388 NA 0.036 0.0976 0.0092 0.04 NA 0.04 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019692 NA NA NA NA NA 0.029 NA 4.9612 1156 5 75371705 75371705 T C intergenic POC5,SV2C dist=358392;dist=7600 NA NA ncRNA_exonic ENSG00000249777 NA NA NA Score=383;Name=lod=48 NA 5q13.3 NA NA NA NA rs141381452 0.02 0.02 0.011 0.0119808 0.0388 NA 0.0101 0.0023 0.0112 0.04 NA 0.01 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065427 NA NA NA NA NA NA NA 4.9612 1156 1 183086757 183086757 A C exonic LAMC1 NA synonymous SNV LAMC1:NM_002293:exon10:c.A1776C:p.A592A exonic ENSG00000135862 NA synonymous SNV ENSG00000135862:ENST00000258341:exon10:c.A1776C:p.A592A Score=501;Name=lod=145 NA 1q25.3 NA NA NA NA rs2296292 0.53 0.53 0.503 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.5724 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.44255 1.44255 NA 0.569535 0.374716 NA 0.464 NA 4.9611316 1156 1 183093875 183093875 T C exonic LAMC1 NA synonymous SNV LAMC1:NM_002293:exon14:c.T2511C:p.N837N exonic ENSG00000135862 NA synonymous SNV ENSG00000135862:ENST00000258341:exon14:c.T2511C:p.N837N NA NA 1q25.3 Score=730;Name=V$LUN1_01 NA NA NA rs20557 0.53 0.53 0.494 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.5724 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341477 NA NA 0.569535 0.374489 NA 0.464 NA 4.9611316 1156 6 154763401 154763401 G A exonic CNKSR3 NA synonymous SNV CNKSR3:NM_173515:exon3:c.C240T:p.N80N exonic ENSG00000153721 NA synonymous SNV ENSG00000153721:ENST00000607772:exon3:c.C240T:p.N80N NA NA 6q25.2 NA NA NA NA rs6557351 0.33 0.33 0.348 0.3752 0.2445 0.2857 0.3602 0.6203 0.2812 0.24 0.25 0.31 0.57 0.2599 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103954 NA NA 0.201163 0.580118 ID=COSM150203;OCCURENCE=1(stomach) 0.355 NA 4.9611036 1156 19 53945701 53945701 C T ncRNA_exonic TPM3P9 NA NA NA ncRNA_exonic ENSG00000241015 NA NA NA Score=652;Name=lod=593 NA 19q13.42 NA NA NA NA rs12984381 0.6 0.6 0.592 0.634385 0.7058 0.3988 0.6614 0.6203 0.8037 0.72 0.4 0.66 0.6 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081701 NA NA NA NA NA 0.348 NA 4.9608666 1156 19 37441111 37441111 C T exonic ZNF568 NA synonymous SNV ZNF568:NM_001204837:exon5:c.C864T:p.H288H,ZNF568:NM_001204836:exon6:c.C864T:p.H288H,ZNF568:NM_001204835:exon7:c.C1053T:p.H351H,ZNF568:NM_198539:exon7:c.C1056T:p.H352H exonic ENSG00000198453 NA synonymous SNV ENSG00000198453:ENST00000415168:exon5:c.C864T:p.H288H,ENSG00000198453:ENST00000587857:exon6:c.C864T:p.H288H,ENSG00000198453:ENST00000333987:exon7:c.C1056T:p.H352H Score=403;Name=lod=58 NA 19q13.12 NA NA NA NA rs571294 0.57 0.57 0.559 0.586262 0.5656 0.3571 0.6167 0.7625 0.5838 0.58 0.36 0.62 0.76 0.5666 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375358 NA NA 0.573807 0.74352 NA 0.594 NA 4.9606596 1156 2 65893849 65893849 C T intergenic SPRED2,MIR4778 dist=234193;dist=691532 NA NA ncRNA_exonic ENSG00000214533 NA NA NA Score=554;Name=lod=238 NA 2p14 NA NA NA NA rs61743052 0.04 0.04 0.041 0.0383387 0.0398 NA 0.0331 0.0923 0.0072 0.04 NA 0.04 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436652 NA NA NA NA NA 0.029 NA 4.9602 1156 2 219219022 219219022 G A intergenic PNKD,C2orf62 dist=7506;dist=2557 NA NA ncRNA_exonic ENSG00000230580 NA NA NA Score=747;Name=lod=1446 NA 2q35 NA NA NA NA rs73990428 0.08 0.08 0.083 0.115415 0.0398 0.1696 0.0317 0.1218 0.1881 0.04 0.15 0.04 0.11 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309413 NA NA NA NA NA 0.051 NA 4.9602 1156 4 57906930 57906930 T G intronic IGFBP7 NA NA NA intronic ENSG00000163453 NA NA NA NA NA 4q12 NA NA Name=14 NA rs3755905 0.08 0.08 0.068 0.0856629 0.0398 0.1567 0.0389 0.0688 0.1155 0.04 0.16 0.04 0.07 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411102 NA NA NA NA NA 0.058 NA 4.9602 1156 16 667311 667311 A G intronic RAB40C NA NA NA intronic ENSG00000197562 NA NA NA NA NA 16p13.3 NA Name=FOXA1_(C-20) NA NA rs74777284 0.03 0.03 0.04 0.0357428 0.0109 0.0278 0.0101 0.0719 0.0389 0.01 0.04 0.01 0.08 0.0181 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734712 NA NA 0.01093 0.070877 NA 0.051 NA 4.96007 1156 16 1682281 1682281 A G exonic CRAMP1L NA synonymous SNV CRAMP1L:NM_020825:exon3:c.A609G:p.A203A exonic ENSG00000007545,ENSG00000261732 NA synonymous SNV ENSG00000007545:ENST00000293925:exon3:c.A609G:p.A203A,ENSG00000007545:ENST00000397412:exon4:c.A609G:p.A203A,ENSG00000007545:ENST00000436138:exon4:c.A600G:p.A200A NA NA 16p13.3 NA NA NA NA rs3169425 0.41 0.41 0.406 0.453874 0.173 0.5605 0.3386 0.6838 0.4039 0.16 0.55 0.33 0.68 0.3578 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260061 NA NA 0.175915 0.577992 ID=COSM434722;OCCURENCE=1(breast) 0.341 NA 4.9599516 1156 19 53945114 53945114 G C ncRNA_exonic TPM3P9 NA NA NA ncRNA_exonic ENSG00000241015 NA NA NA Score=313;Name=lod=25 NA 19q13.42 NA NA NA NA rs4803124 0.6 0.6 0.56 0.636182 0.7068 0.3998 0.6614 0.6256 0.8037 0.72 0.4 0.66 0.59 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122061 NA NA NA NA NA 0.529 NA 4.9598666 1156 19 53945250 53945250 A T ncRNA_exonic TPM3P9 NA NA NA ncRNA_exonic ENSG00000241015 NA NA NA Score=712;Name=lod=1044 NA 19q13.42 NA NA NA NA rs4803126 0.6 0.6 0.574 0.635982 0.7068 0.3998 0.6614 0.6248 0.8037 0.72 0.4 0.66 0.59 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.215443 NA NA NA NA NA 0.601 NA 4.9598666 1156 19 53945679 53945679 T G ncRNA_exonic TPM3P9 NA NA NA ncRNA_exonic ENSG00000241015 NA NA NA Score=652;Name=lod=593 NA 19q13.42 NA NA NA NA rs12986193 0.59 0.59 0.555 0.619808 0.7068 0.3998 0.6513 0.5696 0.8027 0.72 0.4 0.65 0.55 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912488 NA NA NA NA NA 0.333 NA 4.9598666 1156 12 67706466 67706466 G A exonic CAND1 NA synonymous SNV CAND1:NM_018448:exon15:c.G3549A:p.L1183L exonic ENSG00000111530 NA synonymous SNV ENSG00000111530:ENST00000544619:exon9:c.G2169A:p.L723L,ENSG00000111530:ENST00000545606:exon15:c.G3549A:p.L1183L Score=751;Name=lod=1504 NA 12q15 NA NA NA NA rs1060350 0.43 0.43 0.405 0.40635 0.5905 0.3194 0.4899 0.2201 0.499 0.59 0.29 0.51 0.26 0.5201 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499925 NA NA 0.596395 0.278257 ID=COSM147562;OCCURENCE=1(stomach) 0.442 NA 4.9596716 1156 4 74951740 74951740 G T intergenic PPBPP2,CXCL2 dist=30624;dist=11014 NA NA ncRNA_exonic ENSG00000251017 NA NA NA Score=452;Name=lod=92 NA 4q13.3 NA NA NA NA rs72652927 0.02 0.02 0.019 0.0211661 0.0408 NA 0.0259 0.0008 0.047 0.05 NA 0.03 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12982 NA NA NA NA NA 0.022 NA 4.9592 1156 6 52344662 52344662 A C intronic EFHC1 NA NA NA intronic ENSG00000096093 NA NA NA NA NA 6p12.2 Score=872;Name=V$OCT1_03 NA NA NA rs515432 0.07 0.07 0.076 0.0722843 0.0408 NA 0.0317 0.2194 0.0092 0.04 NA 0.03 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.222999 2.222999 NA NA NA NA 0.145 NA 4.9592 1156 10 116307340 116307340 C G intronic ABLIM1 NA NA NA intronic ENSG00000099204 NA NA NA NA NA 10q25.3 NA Name=GATA-1 NA NA rs41284354 0.02 0.02 0.01 0.013778 0.0408 NA 0.0288 0.0038 0.0031 0.03 NA 0.04 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.799545 1.799545 NA NA NA NA 0.029 NA 4.9592 1156 12 59447334 59447334 A G intergenic LRIG3,SLC16A7 dist=133015;dist=542487 NA NA ncRNA_exonic ENSG00000257288 NA NA NA Score=664;Name=lod=665 NA 12q14.1 NA NA NA NA rs80240969 0.09 0.09 0.086 0.0944489 0.0408 0.0337 0.1527 0.202 0.0256 0.04 0.03 0.12 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153471 NA NA NA NA NA 0.072 NA 4.9592 1156 15 50086480 50086480 C T intergenic DTWD1,ATP8B4 dist=149147;dist=63955 NA NA ncRNA_exonic ENSG00000259388 NA NA NA Score=669;Name=lod=698 NA 15q21.2 NA NA NA NA rs10519239 0.02 0.02 0.02 0.0217652 0.0408 NA 0.036 0.028 0.0061 0.04 NA 0.03 0.02 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749087 NA NA NA NA NA NA NA 4.9592 1156 4 38774785 38774785 A G exonic TLR10 NA synonymous SNV TLR10:NM_001017388:exon2:c.T2427C:p.D809D,TLR10:NM_001195106:exon3:c.T2427C:p.D809D,TLR10:NM_001195107:exon3:c.T2427C:p.D809D,TLR10:NM_001195108:exon3:c.T2385C:p.D795D,TLR10:NM_030956:exon4:c.T2427C:p.D809D exonic ENSG00000174123 NA synonymous SNV ENSG00000174123:ENST00000361424:exon2:c.T2427C:p.D809D,ENSG00000174123:ENST00000506111:exon2:c.T2427C:p.D809D,ENSG00000174123:ENST00000508334:exon2:c.T2427C:p.D809D,ENSG00000174123:ENST00000308973:exon4:c.T2427C:p.D809D NA NA 4p14 NA NA NA NA rs10776482 0.31 0.31 0.311 0.298722 0.2495 0.4325 0.3184 0.2126 0.3139 0.22 0.53 0.32 0.18 0.2549 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594449 NA NA 0.20314 0.222424 ID=COSM1429551;OCCURENCE=1(large_intestine) 0.355 NA 4.9591266 1156 4 68928537 68928537 G A ncRNA_exonic LOC550113,SYT14L NA NA NA ncRNA_exonic ENSG00000215127,ENSG00000248049 NA NA NA Score=721;Name=lod=1134 NA 4q13.2 NA NA NA NA rs3819257 0.23 0.23 0.213 0.244209 0.2664 0.1349 0.4179 0.2171 0.2474 0.27 0.13 0.37 0.2 0.2403 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830387 NA 0.27 0.20121 0.187642 NA 0.217 NA 4.9587566 1156 17 6942108 6942108 C T exonic SLC16A13 NA synonymous SNV SLC16A13:NM_201566:exon3:c.C981T:p.S327S exonic ENSG00000174327 NA synonymous SNV ENSG00000174327:ENST00000308027:exon3:c.C981T:p.S327S Score=605;Name=lod=383 NA 17p13.1 NA NA NA NA rs11078663 0.42 0.42 0.393 0.352037 0.6044 0.5149 0.4035 0.0469 0.3006 0.6 0.51 0.43 0.06 0.5024 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541738 NA NA 0.601279 0.129596 NA 0.268 NA 4.9585876 1156 8 70706585 70706585 T C intronic SLCO5A1 NA NA NA ncRNA_exonic ENSG00000271113 NA NA NA Score=397;Name=lod=55 NA 8q13.3 NA NA NA NA rs12550173 0.34 0.34 0.294 0.314097 0.3748 0.4563 0.451 0.0537 0.3599 0.39 0.43 0.45 0.08 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.911398 2.911398 NA NA NA NA 0.254 NA 4.9585333 1156 12 99188418 99188418 C G intronic ANKS1B NA NA NA ncRNA_exonic ENSG00000258204 NA NA NA Score=680;Name=lod=774 NA 12q23.1 NA NA NA NA rs73149056 0.24 0.24 0.222 0.21226 0.3748 0.12 0.2017 0.1732 0.2004 0.37 0.11 0.24 0.17 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254123 NA NA NA NA NA 0.225 NA 4.9585333 1156 17 15608194 15608194 T G intronic ZNF286A NA NA NA ncRNA_exonic ENSG00000233966 NA NA NA Score=727;Name=lod=1203 NA 17p12 NA NA NA NA rs8075077 0.48 0.48 0.41 0.508586 0.3748 0.6062 0.4222 0.5847 0.5041 0.38 0.59 0.39 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.979931 NA NA NA NA NA 0.138 NA 4.9585333 1156 12 49691567 49691567 T C intronic PRPH NA NA NA ncRNA_intronic ENSG00000258334 NA NA NA NA NA 12q13.12 NA NA NA NA rs2236746 0.17 0.17 0.193 0.182508 0.1839 0.0149 0.1225 0.3752 0.136 0.18 0.02 0.15 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760546 NA NA 0.191075 0.334538 NA 0.246 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057162.1;CLNDSDB=.;CLNDSDBID=. 4.9583583 1156 7 128554035 128554035 G A intergenic KCP,IRF5 dist=3262;dist=23959 NA NA ncRNA_exonic ENSG00000224163 NA NA NA Score=675;Name=lod=740 NA 7q32.1 NA NA NA NA rs117461574 0.02 0.02 0.02 0.028754 0.0417 0.001 0.0245 NA 0.0859 0.04 NA 0.03 NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24931 NA 0.77 NA NA NA 0.029 NA 4.9583 1156 11 552331 552331 G A intronic LRRC56 NA NA NA intronic ENSG00000161328 NA NA NA NA NA 11p15.5 NA Name=GR NA NA rs58139375 0.02 0.02 0.014 0.0311502 0.0417 NA 0.0317 0.0113 0.0787 0.04 NA 0.05 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693782 NA NA NA NA NA 0.08 NA 4.9583 1156 11 126136951 126136951 G C intronic SRPR NA NA NA intronic ENSG00000182934 NA NA NA NA NA 11q24.2 NA Name=Pol2-4H8 NA NA rs73017356 0.02 0.02 0.014 0.0117812 0.0417 NA 0.0187 0.0015 0.002 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.159177 NA NA NA NA NA 0.065 NA 4.9583 1156 18 12028812 12028812 T C intronic IMPA2 NA NA NA intronic ENSG00000141401 NA NA NA NA NA 18p11.21 NA NA Name=3 NA rs149833186 0.01 0.01 0.004 0.00419329 0.0129 NA 0.0101 NA 0.001 0.01 NA 0.01 NA 0.0122 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185501 NA NA 0.01686 0.002951 NA 0.007 NA 4.95804 1156 11 6624617 6624617 T C intronic RRP8 NA NA NA intronic ENSG00000132275 NA NA NA NA NA 11p15.4 NA Name=ETS1,E2F6,CTCF,KAP1,AP-2gamma,THAP1_(SC-98174) Name=147 NA rs12420389 0.22 0.22 0.194 0.194089 0.3439 0.0685 0.2205 0.1861 0.1616 0.34 0.08 0.23 0.16 0.3672 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166031 NA NA 0.331002 0.197452 NA 0.246 NA 4.957898 1156 19 6734131 6734131 C G intronic GPR108 NA NA NA intronic ENSG00000125734 NA NA NA NA NA 19p13.3 NA Name=FOSL1_(SC-183),HNF4G_(SC-6558),HNF4A_(H-171),Egr-1,HDAC2_(SC-6296) Name=4 NA rs339397 0.58 0.58 0.558 0.551118 0.5308 0.5665 0.5432 0.6415 0.4397 0.51 0.59 0.54 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310416 NA NA 0.511314 0.622832 NA 0.457 NA 4.957886 1156 3 108678002 108678002 G A intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 NA Name=p300,STAT3 Name=23 NA rs2197738 0.29 0.29 0.289 0.305711 0.3678 0.1071 0.2421 0.3933 0.3732 0.37 0.08 0.3 0.41 0.3254 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.797226 NA NA 0.349 0.399183 NA 0.377 NA 4.9578 1156 20 60881330 60881330 G A exonic ADRM1 NA synonymous SNV ADRM1:NM_007002:exon4:c.G408A:p.A136A,ADRM1:NM_175573:exon4:c.G408A:p.A136A exonic ENSG00000130706 NA synonymous SNV ENSG00000130706:ENST00000253003:exon4:c.G408A:p.A136A NA NA 20q13.33 NA Name=Pol2(phosphoS2),ZBTB33,FOSL2,USF-1 Name=23 NA rs2427273 0.84 0.84 0.83 0.817891 0.9046 0.9752 0.8818 0.5877 0.8323 0.9 0.97 0.86 0.6 0.8765 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371454 1.371454 NA 0.928023 0.657059 NA 0.804 NA 4.9575436 1156 1 35653783 35653783 G C intronic SFPQ NA NA NA intronic ENSG00000116560 NA NA NA NA NA 1p34.3 NA Name=Pol2-4H8 NA NA rs4652873 0.39 0.39 0.384 0.39397 0.0427 0.6677 0.3963 0.6188 0.1677 0.04 0.69 0.31 0.62 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727009 NA NA NA NA NA 0.268 NA 4.9573 1156 2 238732864 238732864 G A intronic RBM44 NA NA NA intronic ENSG00000177483 NA NA NA NA NA 2q37.3 NA NA Name=4 NA rs72991078 0.02 0.02 0.017 0.0159744 0.0427 NA 0.0274 0.0015 0.0164 0.04 NA 0.04 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793427 NA NA NA NA NA 0.072 NA 4.9573 1156 5 35068238 35068238 C T intronic PRLR NA NA NA intronic ENSG00000113494 NA NA NA NA NA 5p13.2 NA NA Name=19 NA rs79469561 0.03 0.03 0.024 0.0377396 0.0427 0.0427 0.0389 0.003 0.0736 0.04 0.04 0.04 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170866 NA NA NA NA NA 0.022 NA 4.9573 1156 5 35068248 35068248 G C intronic PRLR NA NA NA intronic ENSG00000113494 NA NA NA NA NA 5p13.2 NA NA Name=19 NA rs78373811 0.07 0.07 0.068 0.0950479 0.0427 0.0427 0.0576 0.2103 0.0736 0.04 0.04 0.06 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902594 NA NA NA NA NA 0.051 NA 4.9573 1156 1 183072590 183072590 T C exonic LAMC1 NA synonymous SNV LAMC1:NM_002293:exon2:c.T546C:p.C182C exonic ENSG00000135862 NA synonymous SNV ENSG00000135862:ENST00000258341:exon2:c.T546C:p.C182C Score=555;Name=lod=241 NA 1q25.3 NA NA NA NA rs2296288 0.53 0.53 0.5 0.531949 0.5646 0.628 0.6268 0.3321 0.6022 0.58 0.58 0.58 0.38 0.5737 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.288413 1.288413 NA 0.571279 0.376078 NA 0.464 NA 4.9570876 1156 7 56151242 56151242 C T intronic PHKG1 NA NA NA intronic ENSG00000164776 NA NA NA NA NA 7p11.2 NA Name=Pol2 NA NA rs73126333 0.03 0.03 0.022 0.0321486 0.0437 NA 0.0922 0.0045 0.0481 0.04 NA 0.09 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109005 NA NA NA NA NA 0.022 NA 4.9563 1156 9 2810505 2810505 T A intronic KIAA0020 NA NA NA intronic ENSG00000080608 NA NA NA NA NA 9p24.2 NA Name=GR NA NA rs41272895 0.06 0.06 0.06 0.0553115 0.0437 0.0605 0.0648 0.0703 0.0348 0.04 0.08 0.05 0.07 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28558 NA NA NA NA NA 0.094 NA 4.9563 1156 1 198288709 198288709 A G UTR3 NEK7 NM_133494:c.*57A>G NA NA UTR3 ENSG00000151414 ENST00000367385:c.*57A>G NA NA Score=329;Name=lod=29 NA 1q31.3 NA NA NA NA rs6679100 0.63 0.63 0.607 0.694089 0.3777 0.8988 0.6599 0.764 0.7382 0.37 0.89 0.61 0.75 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303722 1.303722 NA NA NA NA 0.645 NA 4.9556334 1156 17 49231623 49231623 C G UTR5 NME1 NM_198175:c.-112C>G NA NA UTR5 ENSG00000011052,ENSG00000239672 ENST00000555572:c.-112C>G;ENST00000336097:c.-112C>G,ENST00000480143:c.-112C>G,ENST00000013034:c.-112C>G,ENST00000456492:c.-112C>G NA NA NA NA 17q21.33 NA NA Name=26 NA rs34431255 0.4 0.4 0.36 0.362819 0.3777 0.3849 0.3862 0.3767 0.2894 0.37 0.4 0.43 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165262 NA NA NA NA NA 0.442 NA 4.9556334 1156 19 56549532 56549532 A G exonic NLRP5 NA synonymous SNV NLRP5:NM_153447:exon10:c.A2757G:p.R919R exonic ENSG00000171487 NA synonymous SNV ENSG00000171487:ENST00000390649:exon10:c.A2757G:p.R919R NA NA 19q13.43 NA NA NA NA rs306447 0.3 0.3 0.31 0.303115 0.2406 0.3016 0.1758 0.4834 0.2157 0.23 0.31 0.2 0.47 0.2497 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137064 NA NA 0.220911 0.420879 ID=COSM148767;OCCURENCE=1(stomach) 0.384 NA 4.9554556 1157 13 41437824 41437824 T G ncRNA_intronic TPTE2P5 NA NA NA ncRNA_exonic ENSG00000176268 NA NA NA Score=628;Name=lod=476 NA 13q14.11 NA NA NA NA rs9315790 0.45 0.45 0.401 0.42512 0.7117 0.1706 0.67 0.1664 0.5685 0.73 0.19 0.64 0.18 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.813728 1.813728 NA NA NA NA 0.478 NA 4.9549666 1157 2 219513782 219513782 T C exonic ZNF142 NA synonymous SNV ZNF142:NM_001105537:exon6:c.A849G:p.P283P exonic ENSG00000115568 NA synonymous SNV ENSG00000115568:ENST00000411696:exon5:c.A849G:p.P283P,ENSG00000115568:ENST00000449707:exon6:c.A849G:p.P283P NA NA 2q35 NA NA NA NA rs4674322 0.13 0.13 0.12 0.0866613 0.2704 NA 0.1441 0.0151 0.0429 0.27 NA 0.19 0.04 0.1829 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.678988 NA NA 0.258584 0.045656 NA 0.138 NA 4.9547826 1157 6 32629680 32629680 A G intronic HLA-DQB1 NA NA NA ncRNA_intronic ENSG00000241287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs2854272 0.32 0.32 0.3 0.325679 0.3787 0.249 0.3473 0.3464 0.3067 0.35 0.24 0.36 0.34 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139789 NA NA NA NA NA 0.13 NA 4.9546333 1157 15 52510670 52510670 A G intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA Name=4 NA rs3751610 0.04 0.04 0.028 0.0369409 0.0109 0.1111 0.0403 0.0053 0.0276 0.01 0.11 0.03 0.01 0.0244 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088972 NA NA 0.010308 0.010995 NA 0.007 NA 4.954392 1157 1 81674838 81674838 A C intergenic NONE,LPHN2 dist=NONE;dist=591244 NA NA ncRNA_exonic ENSG00000235089 NA NA NA Score=736;Name=lod=1309 NA 1p31.1 NA NA NA NA rs41342747 0.09 0.09 0.101 0.10643 0.0457 0.0317 0.0706 0.2685 0.0521 0.03 0.03 0.07 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775169 NA NA NA NA NA 0.152 NA 4.9543 1157 3 12299660 12299660 G A intergenic SYN2,PPARG dist=66128;dist=29689 NA NA ncRNA_exonic ENSG00000236062 NA NA NA Score=546;Name=lod=220 NA 3p25.2 NA NA NA NA rs35877199 0.03 0.03 0.035 0.0383387 0.0457 0.0228 0.0159 0.025 0.0808 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.053611 2.053611 NA NA NA NA 0.036 NA 4.9543 1157 4 83196888 83196888 C T intergenic RASGEF1B,HNRNPD dist=803827;dist=77579 NA NA ncRNA_exonic ENSG00000234568 NA NA NA NA NA 4q21.22 NA NA Name=2 NA rs72658906 0.02 0.02 0.014 0.0125799 0.0457 NA 0.013 0.0038 0.0031 0.04 NA 0.02 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486698 NA 0.01 NA NA NA 0.072 NA 4.9543 1157 19 52994491 52994491 A G intronic ZNF578 NA NA NA intronic ENSG00000258405 NA NA NA NA NA 19q13.41 NA NA NA NA NA NA NA NA 0.0113818 0.0457 NA 0.0144 0.0008 NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798566 NA NA NA NA NA 0.014 NA 4.9543 1157 5 109220991 109220991 C T ncRNA_exonic LOC100289673 NA NA NA ncRNA_exonic ENSG00000253224 NA NA NA Score=304;Name=lod=23 NA 5q21.3 NA NA NA NA rs13360436 0.6 0.6 0.636 0.580671 0.7127 0.2808 0.5836 0.7905 0.4683 0.72 0.25 0.61 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66258 NA NA NA NA NA 0.746 NA 4.9539666 1157 1 112192122 112192122 T C intronic RAP1A NA NA NA ncRNA_exonic ENSG00000215867 NA NA NA NA Name=Osteoporosis 1p13.2 NA NA NA NA rs494453 0.43 0.43 0.386 0.429313 0.3797 0.4712 0.464 0.4697 0.3579 0.39 0.44 0.43 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247787 NA NA NA NA NA 0.362 NA 4.9536333 1157 7 98995465 98995465 G A intronic PDAP1 NA NA NA intronic ENSG00000106244 NA NA NA NA NA 7q22.1 NA Name=Pol2 NA NA rs140429100 0.01 0.01 NA 0.00399361 0.0119 0.001 0.0058 0.0008 0.002 0.01 NA 0.01 0.002 0.0153 0.019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058124 NA NA 0.019419 0.003177 NA NA NA 4.953381 1157 20 3784110 3784110 C T exonic CDC25B NA synonymous SNV CDC25B:NM_021872:exon13:c.C1293T:p.I431I,CDC25B:NM_004358:exon14:c.C1374T:p.I458I,CDC25B:NM_021873:exon14:c.C1416T:p.I472I exonic ENSG00000101224 NA synonymous SNV ENSG00000101224:ENST00000340833:exon13:c.C1293T:p.I431I,ENSG00000101224:ENST00000379598:exon13:c.C1143T:p.I381I,ENSG00000101224:ENST00000245960:exon14:c.C1416T:p.I472I,ENSG00000101224:ENST00000344256:exon14:c.C1224T:p.I408I,ENSG00000101224:ENST00000439880:exon14:c.C1374T:p.I458I NA NA 20p13 NA NA NA NA rs1056720 0.24 0.24 0.222 0.230032 0.2207 0.377 0.2925 0.1036 0.2147 0.22 0.34 0.28 0.12 0.2474 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101288 NA NA 0.245233 0.126419 NA 0.268 NA 4.9533336 1157 3 12299365 12299365 A G intergenic SYN2,PPARG dist=65833;dist=29984 NA NA ncRNA_exonic ENSG00000236062 NA NA NA Score=459;Name=lod=98 NA 3p25.2 NA NA NA NA rs71304096 0.03 0.03 0.029 0.038738 0.0467 0.0228 0.0159 0.025 0.0818 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415229 NA NA NA NA NA 0.036 NA 4.9533 1157 3 12299615 12299615 C A intergenic SYN2,PPARG dist=66083;dist=29734 NA NA ncRNA_exonic ENSG00000236062 NA NA NA Score=546;Name=lod=220 NA 3p25.2 NA NA NA NA rs71304097 0.03 0.03 0.038 0.038738 0.0467 0.0228 0.0159 0.025 0.0818 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140448 NA NA NA NA NA 0.036 NA 4.9533 1157 3 12299722 12299722 G A intergenic SYN2,PPARG dist=66190;dist=29627 NA NA ncRNA_exonic ENSG00000236062 NA NA NA Score=546;Name=lod=220 NA 3p25.2 NA NA NA NA rs35057507 0.03 0.03 0.027 0.038738 0.0467 0.0228 0.0159 0.025 0.0818 0.05 0.03 0.03 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066498 NA NA NA NA NA 0.036 NA 4.9533 1157 6 50682765 50682765 C G intronic TFAP2D NA NA NA intronic ENSG00000008197 NA NA NA NA NA 6p12.3 NA NA Name=3 NA rs45599639 0.02 0.02 0.012 0.014377 0.0467 NA 0.0231 0.0015 0.0072 0.05 NA 0.03 NA NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.337476 2.337476 NA NA NA NA NA NA 4.9533 1157 18 47375932 47375932 C G intronic MYO5B NA NA NA ncRNA_intronic ENSG00000267322 NA NA NA NA NA 18q21.1 NA Name=Pol2(b) Name=16 NA rs488890 0.36 0.36 0.369 0.354034 0.4891 0.123 0.3444 0.4501 0.3303 0.47 0.13 0.39 0.43 0.4095 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.215098 NA NA 0.482288 0.424938 NA 0.384 NA 4.9524453 1157 1 215044171 215044171 C A intergenic CENPF,KCNK2 dist=206257;dist=134714 NA NA ncRNA_exonic ENSG00000185221 NA NA NA Score=673;Name=lod=724 NA 1q41 NA NA NA NA rs28464181 0.02 0.02 0.029 0.0175719 0.0477 NA 0.0187 0.0023 0.0245 0.05 NA 0.02 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181905 NA NA NA NA NA 0.007 NA 4.9523 1157 4 66082691 66082691 C T intergenic LOC401134,EPHA5 dist=212473;dist=102590 NA NA ncRNA_exonic ENSG00000249351 NA NA NA Score=688;Name=lod=833 NA 4q13.1 NA NA NA NA rs72638625 0.05 0.05 0.037 0.0461262 0.0477 0.0198 0.062 0.0537 0.0501 0.05 0.03 0.06 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76512 NA NA NA NA NA 0.08 NA 4.9523 1157 11 90015854 90015854 G A intergenic CHORDC1,MIR4490 dist=59322;dist=273088 NA NA ncRNA_exonic ENSG00000214391 NA NA NA Score=892;Name=lod=5600 NA 11q14.3 NA NA NA NA rs112217744 0.02 0.02 0.024 0.0127796 0.0477 NA 0.0101 0.003 0.0051 0.05 0.0017 0.02 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303123 1.303123 0 NA NA NA 0.014 NA 4.9523 1157 19 15890625 15890625 C G ncRNA_exonic CYP4F24P NA NA NA ncRNA_exonic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA Name=19 NA rs11673423 0.56 0.56 0.529 0.542732 0.7147 0.2679 0.5807 0.5915 0.5562 0.7 0.27 0.66 0.59 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315104 NA 1 NA NA NA 0.471 NA 4.9519666 1157 2 207174316 207174316 T C exonic ZDBF2 NA synonymous SNV ZDBF2:NM_020923:exon5:c.T5064C:p.S1688S exonic ENSG00000204186 NA synonymous SNV ENSG00000204186:ENST00000374423:exon5:c.T5064C:p.S1688S NA NA 2q33.3 Score=807;Name=V$CEBP_C NA NA NA rs3732084 0.48 0.48 0.467 0.475639 0.5706 0.3562 0.6182 0.3812 0.5276 0.57 0.36 0.59 0.42 0.5394 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236291 NA NA 0.605033 0.464083 NA 0.457 NA 4.9516336 1157 19 56392920 56392920 C T exonic NLRP4 NA synonymous SNV NLRP4:NM_134444:exon10:c.C2952T:p.D984D exonic ENSG00000160505 NA synonymous SNV ENSG00000160505:ENST00000587891:exon8:c.C2727T:p.D909D,ENSG00000160505:ENST00000346986:exon9:c.C2784T:p.D928D,ENSG00000160505:ENST00000301295:exon10:c.C2952T:p.D984D NA NA 19q13.43 NA NA NA NA rs12975929 0.21 0.21 0.164 0.221845 0.2376 0.2589 0.3256 0.0151 0.3732 0.25 0.27 0.29 0.03 0.2495 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498542 NA NA 0.228023 0.052429 NA 0.13 NA 4.9515436 1157 1 3427562 3427562 C T intronic MEGF6 NA NA NA intronic ENSG00000162591 NA NA NA NA NA 1p36.32 NA Name=Egr-1 NA NA rs114650222 0.05 0.05 0.042 0.0591054 0.0487 0.1032 0.0519 0.0076 0.0992 0.05 0.09 0.06 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409131 NA NA NA NA NA 0.036 NA 4.9513 1157 6 153280527 153280527 T C intergenic VIP,FBXO5 dist=199625;dist=11131 NA NA ncRNA_exonic ENSG00000220745 NA NA NA Score=278;Name=lod=18 NA 6q25.2 NA NA NA NA rs73006589 0.02 0.02 0.011 0.014976 0.0487 NA 0.0245 0.0023 0.0061 0.05 NA 0.03 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113793 NA NA NA NA ID=COSN167913;OCCURENCE=1(large_intestine) 0.051 NA 4.9513 1157 7 65970570 65970570 T G intergenic LINC00174,LOC493754 dist=105175;dist=47983 NA NA ncRNA_exonic ENSG00000179342 NA NA NA Score=734;Name=lod=1285 NA 7q11.21 NA NA NA NA rs118065642 0.02 0.02 0.023 0.0161741 0.0487 NA 0.0231 0.0023 0.0133 0.05 0.0017 0.03 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586046 NA NA NA NA NA 0.014 NA 4.9513 1157 6 41753084 41753084 C T exonic PRICKLE4 NA synonymous SNV PRICKLE4:NM_013397:exon6:c.C388T:p.L130L exonic ENSG00000124593 NA synonymous SNV ENSG00000124593:ENST00000394259:exon3:c.C268T:p.L90L,ENSG00000124593:ENST00000394260:exon3:c.C268T:p.L90L,ENSG00000124593:ENST00000394263:exon4:c.C388T:p.L130L,ENSG00000124593:ENST00000335515:exon5:c.C388T:p.L130L,ENSG00000124593:ENST00000359201:exon5:c.C388T:p.L130L,ENSG00000124593:ENST00000458694:exon6:c.C388T:p.L130L NA NA 6p21.1 NA NA NA NA rs9394831 0.19 0.19 0.163 0.16274 0.2525 0.3016 0.1297 0.0159 0.1493 0.26 0.28 0.14 0.02 0.2064 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525337 NA NA 0.256977 0.054925 NA 0.138 NA 4.9507896 1157 9 125424507 125424507 A C exonic OR1L1 NA synonymous SNV OR1L1:NM_001005236:exon1:c.A513C:p.S171S exonic ENSG00000173679 NA synonymous SNV ENSG00000173679:ENST00000309623:exon1:c.A513C:p.S171S,ENSG00000173679:ENST00000373686:exon1:c.A663C:p.S221S NA NA 9q33.2 NA NA NA NA rs70156 0.41 0.41 0.427 0.44988 0.2147 0.5089 0.3213 0.7292 0.3446 0.21 0.52 0.29 0.69 0.3024 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163854 NA NA 0.198837 0.652973 NA 0.449 NA 4.9507296 1157 5 178409856 178409856 C T intronic GRM6 NA NA NA ncRNA_intronic ENSG00000254035 NA NA NA NA NA 5q35.3 NA NA NA NA rs2071248 0.45 0.45 0.432 0.455871 0.3827 0.6161 0.4971 0.3828 0.4356 0.37 0.59 0.48 0.36 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431334 NA NA NA NA NA 0.529 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086051.1;CLNDSDB=.;CLNDSDBID=. 4.9506333 1157 1 157768000 157768000 G C exonic FCRL1 NA synonymous SNV FCRL1:NM_001159397:exon7:c.C948G:p.T316T,FCRL1:NM_001159398:exon8:c.C1065G:p.T355T,FCRL1:NM_052938:exon8:c.C1065G:p.T355T exonic ENSG00000163534 NA synonymous SNV ENSG00000163534:ENST00000358292:exon7:c.C948G:p.T316T,ENSG00000163534:ENST00000368176:exon8:c.C1065G:p.T355T,ENSG00000163534:ENST00000491942:exon8:c.C1065G:p.T355T NA NA 1q23.1 NA NA NA NA rs3811024 0.24 0.24 0.239 0.23123 0.2406 0.1855 0.2032 0.3434 0.137 0.24 0.17 0.22 0.32 0.2317 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202973 NA NA 0.243953 0.313436 NA 0.217 NA 4.9504136 1157 4 38775040 38775040 A G exonic TLR10 NA synonymous SNV TLR10:NM_001017388:exon2:c.T2172C:p.H724H,TLR10:NM_001195106:exon3:c.T2172C:p.H724H,TLR10:NM_001195107:exon3:c.T2172C:p.H724H,TLR10:NM_001195108:exon3:c.T2130C:p.H710H,TLR10:NM_030956:exon4:c.T2172C:p.H724H exonic ENSG00000174123 NA synonymous SNV ENSG00000174123:ENST00000361424:exon2:c.T2172C:p.H724H,ENSG00000174123:ENST00000506111:exon2:c.T2172C:p.H724H,ENSG00000174123:ENST00000508334:exon2:c.T2172C:p.H724H,ENSG00000174123:ENST00000308973:exon4:c.T2172C:p.H724H NA NA 4p14 NA NA NA NA rs10776483 0.31 0.31 0.327 0.298722 0.2495 0.4325 0.3184 0.2126 0.3139 0.22 0.53 0.32 0.18 0.2638 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469321 NA NA 0.203023 0.222651 NA 0.362 NA 4.9503436 1157 1 35908451 35908451 T C intronic KIAA0319L NA NA NA intronic ENSG00000142687 NA NA NA NA NA 1p34.3 NA NA Name=16 NA rs2275247 0.44 0.44 0.431 0.452276 0.0497 0.7659 0.3674 0.7201 0.2413 0.04 0.8 0.33 0.72 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.54055 2.54055 NA NA NA NA 0.319 NA 4.9503 1157 1 54307295 54307295 T C intergenic TMEM48,YIPF1 dist=3070;dist=10097 NA NA ncRNA_exonic ENSG00000229687 NA NA NA Score=623;Name=lod=453 NA 1p32.3 NA NA NA NA rs7538888 0.12 0.12 0.14 0.139976 0.0497 0.004 0.0807 0.441 0.0082 0.04 0.0035 0.07 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258604 NA NA NA NA NA 0.174 NA 4.9503 1157 1 113711896 113711896 T C intergenic LRIG2,LOC643441 dist=44554;dist=27508 NA NA ncRNA_exonic ENSG00000233839 NA NA NA Score=570;Name=lod=276 NA 1p13.2 NA NA NA NA rs78286988 0.03 0.03 0.03 0.028155 0.0497 0.0218 0.0303 0.0083 0.0378 0.05 0.02 0.02 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282307 NA NA NA NA NA 0.029 NA 4.9503 1157 4 38776180 38776180 C A exonic TLR10 NA synonymous SNV TLR10:NM_001017388:exon2:c.G1032T:p.P344P,TLR10:NM_001195106:exon3:c.G1032T:p.P344P,TLR10:NM_001195107:exon3:c.G1032T:p.P344P,TLR10:NM_001195108:exon3:c.G990T:p.P330P,TLR10:NM_030956:exon4:c.G1032T:p.P344P exonic ENSG00000174123 NA synonymous SNV ENSG00000174123:ENST00000361424:exon2:c.G1032T:p.P344P,ENSG00000174123:ENST00000506111:exon2:c.G1032T:p.P344P,ENSG00000174123:ENST00000508334:exon2:c.G1032T:p.P344P,ENSG00000174123:ENST00000308973:exon4:c.G1032T:p.P344P NA NA 4p14 NA NA NA NA rs11096956 0.31 0.31 0.323 0.298522 0.2495 0.4325 0.3184 0.2118 0.3139 0.22 0.53 0.32 0.18 0.2637 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433134 NA NA 0.203256 0.222298 NA 0.362 NA 4.9502106 1157 16 89800458 89800458 G A intronic ZNF276 NA NA NA intronic ENSG00000158805 NA NA NA NA NA 16q24.3 NA Name=Pol2,Pol2(phosphoS2) NA NA rs113797466 0.01 0.01 0.003 0.0115815 0.0099 0.001 0.0115 0.0008 0.0389 0.01 0.0017 0.02 0.0041 0.0199 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752997 NA NA 0.02 0.003185 NA NA NA 4.9502 1157 2 132266142 132266142 G C ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=594;Name=lod=347 NA 2q21.1 NA NA NA NA rs12691988 0.45 0.45 0.451 0.511981 0.3231 0.6845 0.5331 0.6225 0.364 0.26 0.62 0.45 0.56 0.3934 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436821 NA NA NA NA NA 0.464 NA 4.9501666 1157 1 21584128 21584128 G A intronic ECE1 NA NA NA intronic ENSG00000117298 NA NA NA NA NA 1p36.12 NA NA Name=8 NA rs41497052 0.01 0.01 0.006 0.00698882 0.0169 NA 0.0173 0.0008 0.0051 0.01 NA 0.02 0.002 0.0138 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515145 NA NA 0.019302 0.00227 NA 0.007 NA 4.949998 1157 8 30095403 30095403 A G ncRNA_intronic MIR548O2 NA NA NA ncRNA_exonic ENSG00000248159 NA NA NA Score=771;Name=lod=1813 NA 8p12 NA NA NA NA rs7008562 0.52 0.52 0.498 0.504193 0.7167 0.255 0.6167 0.4357 0.5552 0.72 0.21 0.66 0.46 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.191189 NA NA NA NA NA 0.551 NA 4.9499666 1157 9 135961796 135961796 C T ncRNA_exonic CELP NA NA NA ncRNA_exonic ENSG00000170827 NA NA NA Score=349;Name=lod=35 NA 9q34.2 NA NA NA NA rs10901233 0.29 0.29 0.163 0.227037 0.4105 0.2113 0.4078 0.0953 0.1043 0.39 0.22 0.41 0.12 0.3063 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.283002 1.283002 NA NA NA NA 0.232 NA 4.9498666 1157 14 103878774 103878774 C G intronic MARK3 NA NA NA ncRNA_exonic ENSG00000244691 NA NA NA Score=750;Name=lod=1489 NA 14q32.32 NA NA NA NA rs12882130 0.28 0.28 0.244 0.236222 0.3837 0.2589 0.4092 0.062 0.1738 0.39 0.26 0.43 0.05 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957236 NA NA NA NA NA 0.29 NA 4.9496333 1157 5 161113004 161113004 G A exonic GABRA6 NA synonymous SNV GABRA6:NM_000811:exon1:c.G9A:p.S3S exonic ENSG00000145863 NA synonymous SNV ENSG00000145863:ENST00000274545:exon1:c.G9A:p.S3S,ENSG00000145863:ENST00000523217:exon1:c.G9A:p.S3S NA NA 5q34 NA NA NA NA rs13188991 0.13 0.13 0.131 0.0992412 0.2664 0.0655 0.1124 0.0083 0.0757 0.25 0.07 0.13 0.01 0.1893 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580719 NA NA 0.261512 0.043577 NA 0.13 NA 4.9494546 1157 8 145665761 145665761 G A exonic TONSL NA synonymous SNV TONSL:NM_013432:exon10:c.C1263T:p.A421A exonic ENSG00000160949 NA synonymous SNV ENSG00000160949:ENST00000409379:exon10:c.C1263T:p.A421A Score=349;Name=lod=35 NA 8q24.3 NA NA NA NA rs2229313 0.49 0.49 0.466 0.427516 0.5994 0.372 0.5014 0.326 0.3926 0.61 0.41 0.52 0.37 0.5197 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245006 NA 0.71 0.598256 0.344616 NA 0.413 NA 4.9493106 1157 1 27306825 27306825 G A intergenic C1orf172,TRNP1 dist=19924;dist=13370 NA NA ncRNA_exonic ENSG00000172746 NA NA NA Score=711;Name=lod=1036 NA 1p36.11 NA NA NA NA rs12737292 0.04 0.04 0.034 0.0401358 0.0507 0.005 0.036 0.0613 0.0399 0.04 0.01 0.04 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12394 NA NA NA NA NA 0.043 NA 4.9493 1157 14 103574968 103574968 G C intronic EXOC3L4 NA NA NA intronic ENSG00000205436 NA NA NA NA NA 14q32.32 NA Name=ZBTB7A_(SC-34508) NA NA rs41301467 0.02 0.02 0.015 0.0191693 0.0507 0.001 0.0072 0.0008 0.0389 0.05 0.0017 0.01 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77049 NA NA NA NA NA 0.101 NA 4.9493 1157 15 72902187 72902187 G A intergenic MIR630,GOLGA6B dist=22533;dist=44851 NA NA ncRNA_exonic ENSG00000260144 NA NA NA Score=509;Name=lod=156 NA 15q24.1 NA NA NA NA rs72735194 0.12 0.12 0.109 0.131589 0.0507 0.002 0.1484 0.3646 0.0215 0.03 0.0035 0.13 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25351 NA NA NA NA NA 0.116 NA 4.9493 1157 22 46774673 46774673 T C intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA Name=3 NA rs55896501 0.07 0.07 0.067 0.0698882 0.0507 NA 0.0476 0.1876 0.0184 0.04 NA 0.05 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123359 NA NA NA NA NA 0.051 NA 4.9493 1157 16 81193344 81193344 T C exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN NA NA 16q23.2 NA NA NA NA rs143351043 0.01 0.01 0.01 0.0091853 0.0139 NA 0.013 0.0023 0.0204 0.01 NA 0.01 0.0041 0.0172 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026326 NA NA 0.019938 0.002509 NA 0.014 NA 4.948962 1157 1 183105534 183105534 T C exonic LAMC1 NA synonymous SNV LAMC1:NM_002293:exon25:c.T4128C:p.R1376R exonic ENSG00000135862 NA synonymous SNV ENSG00000135862:ENST00000258341:exon25:c.T4128C:p.R1376R NA NA 1q25.3 Score=806;Name=V$PBX1_02 NA NA NA rs20560 0.55 0.55 0.523 0.560503 0.5666 0.625 0.6354 0.4539 0.5787 0.58 0.57 0.6 0.48 0.5808 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160586 NA NA 0.570349 0.480481 NA 0.464 NA 4.9489176 1157 15 85958673 85958673 G T intronic AKAP13 NA NA NA ncRNA_exonic ENSG00000259630 NA NA NA Score=481;Name=lod=120 NA 15q25.3 NA NA NA NA rs35451550 0.19 0.19 0.149 0.151957 0.3847 0.0327 0.2349 0.0166 0.1595 0.38 0.03 0.26 0.02 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721701 NA NA NA NA NA 0.196 NA 4.9486333 1157 22 50705304 50705304 C T intronic MAPK11 NA NA NA exonic ENSG00000185386 NA stopgain ENSG00000185386:ENST00000449719:exon6:c.G345A:p.W115X NA NA 22q13.33 NA NA NA NA rs760747 0.23 0.23 0.224 0.217851 0.2326 0.2163 0.3545 0.1241 0.2342 0.24 0.24 0.37 0.12 0.3189 0.37 0.52 T . . . . . . 0.000 P . . . . . . . . . 2.836 15.45 0.669 0.627 -0.732 . 2.836031 2.836031 NA NA NA NA 0.217 NA 4.9485 1157 12 52886490 52886490 A G exonic KRT6A NA synonymous SNV KRT6A:NM_005554:exon1:c.T483C:p.A161A exonic ENSG00000205420 NA synonymous SNV ENSG00000205420:ENST00000330722:exon1:c.T483C:p.A161A NA NA 12q13.13 Score=776;Name=V$PAX5_01 NA NA NA rs711317 0.53 0.53 0.411 0.449081 0.6044 0.6319 0.6023 0.1331 0.4192 0.59 0.71 0.62 0.14 0.5303 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.9466 NA NA 0.583605 0.197004 ID=COSM1128560;OCCURENCE=1(prostate) 0.558 NA 4.9483616 1157 8 87670315 87670315 G C intronic CNGB3 NA NA NA ncRNA_exonic ENSG00000205333 NA NA NA Score=583;Name=lod=311 NA 8q21.3 NA NA NA NA rs3779799 0.44 0.44 0.353 0.434904 0.3857 0.5357 0.5447 0.2761 0.5184 0.41 0.54 0.49 0.32 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.970437 NA NA NA NA NA 0.413 NA 4.9476333 1157 12 120720246 120720246 T C intergenic PXN,SIRT4 dist=16672;dist=19878 NA NA ncRNA_exonic ENSG00000123009 NA NA NA Score=569;Name=lod=274 NA 12q24.31 NA NA NA NA rs61140476 0.07 0.07 0.062 0.0702875 0.0527 0.0873 0.1729 0.0144 0.0736 0.05 0.09 0.14 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.554077 1.554077 NA NA NA NA 0.058 NA 4.9473 1157 13 25940203 25940203 C G intergenic NUPL1,ATP8A2 dist=23642;dist=6006 NA NA ncRNA_exonic ENSG00000234152 NA NA NA Score=581;Name=lod=305 NA 13q12.13 NA NA NA NA rs77400805 0.08 0.08 0.108 0.0748802 0.0527 0.1121 0.0375 0.1021 0.0491 0.05 0.13 0.03 0.12 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113719 NA NA NA NA NA 0.072 NA 4.9473 1157 19 9266544 9266544 T C intronic ZNF317 NA NA NA intronic ENSG00000130803 NA NA NA NA NA 19p13.2 NA Name=PU.1 NA NA rs79188675 0.1 0.1 0.089 0.0822684 0.0527 0.0972 0.0764 0.1233 0.046 0.06 0.1 0.08 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125955 NA NA NA NA NA 0.08 NA 4.9473 1157 19 9270654 9270654 T C intronic ZNF317 NA NA NA intronic ENSG00000130803 NA NA NA NA NA 19p13.2 NA Name=MafK_(SC-477),MafF_(M8194) NA NA rs112329499 0.1 0.1 0.096 0.091254 0.0527 0.0972 0.0836 0.1536 0.046 0.06 0.1 0.09 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143105 NA NA NA NA NA 0.101 NA 4.9473 1157 22 20109670 20109670 C T intronic RANBP1 NA NA NA intronic ENSG00000099901 NA NA NA NA NA 22q11.21 NA Name=Pol2-4H8 NA NA rs72490649 0.04 0.04 0.044 0.0501198 0.0527 0.0813 0.0101 0.0045 0.1053 0.06 0.07 0.01 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145943 NA NA NA NA NA 0.043 NA 4.9473 1157 9 98221861 98221861 T C intronic PTCH1 NA NA NA intronic ENSG00000185920 NA NA NA NA NA 9q22.32 NA Name=GATA-2 Name=4 NA rs2236406 0.4 0.4 0.408 0.392572 0.338 0.3433 0.232 0.6899 0.2117 0.35 0.34 0.22 0.68 0.3563 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.633634 NA NA 0.358488 0.646164 NA 0.348 NA 4.947212 1157 7 100610026 100610026 A C intergenic ACHE,MUC12 dist=116485;dist=2878 NA NA ncRNA_intronic ENSG00000225946 NA NA NA NA NA 7q22.1 NA Name=CTCF Name=16 NA rs10229209 NA NA 0.587 NA NA NA NA NA NA NA NA NA NA 0.5356 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783587 NA NA 0.517328 0.525685 NA 0.536 NA 4.947072 1157 15 41815405 41815405 C G intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA Name=9 NA rs138545490 0.01 0.01 0.005 0.00599042 0.0169 NA 0.0086 0.0023 0.0041 0.02 NA 0.01 NA 0.0163 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053195 NA NA 0.019884 0.003179 NA 0.014 NA 4.946916 1157 2 132275343 132275343 G T ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=644;Name=lod=552 NA 2q21.1 NA NA NA NA rs12691998 0.5 0.5 0.499 0.510982 0.3231 0.6845 0.5331 0.618 0.365 0.3 0.66 0.49 0.63 0.3967 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26978 NA NA NA NA NA 0.464 NA 4.9468666 1157 6 30882856 30882856 A G intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8,TAF1,TAL1_(SC-12984),ZBTB7A_(SC-34508) Name=7 NA rs1264300 0.24 0.24 0.23 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3233 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.914626 1.914626 NA 0.37403 0.143141 NA 0.283 NA 4.94677 1157 10 3124687 3124687 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA Name=Pol2 NA NA rs41288713 0.01 0.01 0.006 0.00638978 0.0189 NA 0.0101 0.0015 0.0041 0.02 NA 0.01 NA 0.0132 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41998 NA NA 0.021163 0.003858 NA 0.007 NA 4.946737 1157 17 4337412 4337412 C G exonic SPNS3 NA synonymous SNV SPNS3:NM_182538:exon1:c.C150G:p.V50V exonic ENSG00000182557 NA synonymous SNV ENSG00000182557:ENST00000355530:exon1:c.C150G:p.V50V,ENSG00000182557:ENST00000575194:exon1:c.C150G:p.V50V NA NA 17p13.2 NA NA NA NA rs3809853 0.23 0.23 0.251 0.232029 0.2396 0.125 0.1585 0.407 0.1503 0.24 0.12 0.17 0.39 0.2266 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757805 NA NA 0.253837 0.371993 NA 0.275 NA 4.9466296 1157 2 220431631 220431631 G T exonic OBSL1 NA synonymous SNV OBSL1:NM_001173408:exon5:c.C2055A:p.A685A,OBSL1:NM_001173431:exon5:c.C2055A:p.A685A,OBSL1:NM_015311:exon5:c.C2055A:p.A685A exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265318:exon5:c.C2055A:p.A685A,ENSG00000124006:ENST00000289656:exon5:c.C816A:p.A272A,ENSG00000124006:ENST00000373873:exon5:c.C2055A:p.A685A,ENSG00000124006:ENST00000373876:exon5:c.C2055A:p.A685A,ENSG00000124006:ENST00000404537:exon5:c.C2055A:p.A685A,ENSG00000124006:ENST00000603926:exon5:c.C2055A:p.A685A NA NA 2q35 NA NA NA NA rs1043537 0.17 0.17 0.156 0.170927 0.2425 0.1151 0.2003 0.0439 0.3057 0.24 0.13 0.23 0.05 0.2267 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.030705 NA NA 0.251131 0.081277 NA 0.174 NA 4.9463356 1157 1 54440729 54440729 T C intergenic LRRC42,LDLRAD1 dist=6888;dist=32242 NA NA ncRNA_exonic ENSG00000219102 NA NA NA Score=680;Name=lod=772 NA 1p32.3 NA NA NA NA rs72902501 0.18 0.18 0.198 0.203075 0.0537 0.0565 0.0634 0.6172 0.047 0.05 0.06 0.07 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399501 NA NA NA NA NA 0.225 NA 4.9463 1157 6 132211418 132211418 A G intronic ENPP1 NA NA NA intronic ENSG00000197594 NA NA NA NA NA 6q23.2 NA NA Name=10 NA rs9493119 0.1 0.1 0.111 0.116414 0.0537 NA 0.0648 0.3434 0.0307 0.04 NA 0.06 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332353 NA NA NA NA NA 0.08 NA 4.9463 1157 8 41583215 41583215 C T intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA Name=3 NA rs80058016 0.03 0.03 0.024 0.0229633 0.0537 0.001 0.0504 0.0129 0.0082 0.06 NA 0.04 0.02 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049481 NA NA NA NA NA 0.109 NA 4.9463 1157 15 40268544 40268544 G A intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA NA 15q15.1 NA NA Name=107 NA rs12441486 0.12 0.12 0.081 0.134585 0.0537 0.1994 0.2752 0.0537 0.1605 0.05 0.21 0.2 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067979 NA NA NA NA NA 0.08 NA 4.9463 1157 15 42445679 42445679 T A intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 Score=806;Name=V$OCT_C NA NA NA rs681029 0.23 0.23 0.197 0.278355 0.0537 0.1974 0.4193 0.4947 0.2004 0.04 0.18 0.36 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762822 NA NA NA NA NA 0.232 NA 4.9463 1157 16 26043776 26043776 C T intronic HS3ST4 NA NA NA intronic ENSG00000182601 NA NA NA Score=685;Name=lod=814 NA 16p12.1 NA NA NA NA rs56334882 0.21 0.21 0.172 0.216254 0.0537 0.2897 0.1023 0.4539 0.0675 0.05 0.29 0.12 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.503377 2.503377 NA NA NA NA 0.08 NA 4.9463 1157 4 88584160 88584160 G A exonic DMP1 NA synonymous SNV DMP1:NM_001079911:exon5:c.G1182A:p.E394E,DMP1:NM_004407:exon6:c.G1230A:p.E410E exonic ENSG00000152592 NA synonymous SNV ENSG00000152592:ENST00000282479:exon5:c.G1182A:p.E394E,ENSG00000152592:ENST00000339673:exon6:c.G1230A:p.E410E NA NA 4q22.1 NA NA NA NA rs2615497 0.28 0.28 0.293 0.321286 0.2366 0.2589 0.2061 0.4652 0.3599 0.24 0.26 0.2 0.44 0.2594 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.406457 NA NA 0.224419 0.39764 NA 0.268 NA 4.9462476 1157 12 94645255 94645255 A G exonic PLXNC1 NA synonymous SNV PLXNC1:NM_005761:exon15:c.A2832G:p.T944T exonic ENSG00000136040 NA synonymous SNV ENSG00000136040:ENST00000258526:exon15:c.A2832G:p.T944T NA NA 12q22 Score=851;Name=V$USF_01 NA NA NA rs2230757 0.62 0.62 0.569 0.608626 0.5706 0.7411 0.6974 0.5439 0.5358 0.57 0.75 0.68 0.49 0.5977 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026789 NA NA 0.552326 0.576033 NA 0.471 NA 4.9460406 1157 6 138413269 138413269 A G exonic PERP NA synonymous SNV PERP:NM_022121:exon3:c.T492C:p.I164I exonic ENSG00000112378 NA synonymous SNV ENSG00000112378:ENST00000421351:exon3:c.T492C:p.I164I NA NA 6q23.3 Score=926;Name=V$NFY_Q6 NA NA NA rs648396 0.58 0.58 0.563 0.632188 0.5775 0.7232 0.5288 0.5545 0.773 0.57 0.67 0.54 0.53 0.5907 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278146 NA NA 0.552558 0.531548 NA 0.572 NA 4.9459086 1157 1 1636044 1636044 G A exonic CDK11A NA synonymous SNV CDK11A:NM_024011:exon14:c.C1509T:p.Y503Y,CDK11A:NM_033529:exon14:c.C1479T:p.Y493Y exonic ENSG00000008128 NA synonymous SNV ENSG00000008128:ENST00000356200:exon13:c.C1407T:p.Y469Y,ENSG00000008128:ENST00000357760:exon14:c.C1506T:p.Y502Y,ENSG00000008128:ENST00000358779:exon14:c.C1479T:p.Y493Y,ENSG00000008128:ENST00000378633:exon14:c.C1518T:p.Y506Y,ENSG00000008128:ENST00000378638:exon14:c.C1407T:p.Y469Y,ENSG00000008128:ENST00000404249:exon14:c.C1509T:p.Y503Y Score=630;Name=lod=485 NA 1p36.33 NA NA NA NA rs1059822 0.5 0.5 0.432 0.647963 0.5924 0.4643 0.562 0.9433 0.5562 0.47 0.33 0.47 0.76 0.5644 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758666 NA NA 0.564434 0.879693 ID=COSM146375;OCCURENCE=1(stomach) 0.645 NA 4.9454326 1157 14 95107973 95107973 C T ncRNA_exonic SERPINA13P NA NA NA ncRNA_exonic ENSG00000187483 NA NA NA Score=333;Name=lod=30 NA 14q32.13 NA NA NA NA rs4905226 0.17 0.17 0.154 0.171725 0.2505 0.1528 0.1124 0.0908 0.2618 0.25 0.14 0.13 0.1 0.2251 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.510039 NA 0.01 0.245755 0.123014 NA 0.109 NA 4.9453116 1157 6 29895958 29895958 C A intergenic HCG4B,HLA-A dist=2530;dist=14289 NA NA ncRNA_exonic ENSG00000230795 NA NA NA Score=272;Name=lod=17 NA 6p22.1 NA NA NA NA rs9259841 0.05 0.05 0.06 0.053115 0.0547 0.0506 0.0346 0.0567 0.0624 0.05 0.06 0.04 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701506 NA NA NA NA NA 0.014 NA 4.9453 1157 7 6969385 6969385 G A intergenic CCZ1B,LOC100131257 dist=103459;dist=146016 NA NA ncRNA_intronic ENSG00000226943 NA NA NA Score=251;Name=lod=14 NA 7p22.1 NA NA NA NA rs139679358 0.04 0.04 0.017 0.0323482 0.0547 NA 0.1225 0.0038 0.0174 0.06 NA 0.11 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607143 NA NA NA NA NA 0.022 NA 4.9453 1157 4 5732978 5732978 G A intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA Name=5 NA rs1871587 0.08 0.08 0.078 0.101837 0.0547 0.0804 0.0749 0.1581 0.1155 0.05 0.08 0.06 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181455 NA NA NA NA NA 0.072 NA 4.9453 1157 4 20523733 20523733 C T intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA Score=558;Name=lod=247 NA 4p15.31 NA NA NA NA rs73252462 0.03 0.03 0.028 0.0191693 0.0547 NA 0.0432 0.0015 0.0092 0.07 NA 0.06 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871546 NA NA NA NA NA 0.022 NA 4.9453 1157 10 60577256 60577256 C T intronic BICC1 NA NA NA intronic ENSG00000122870 NA NA NA Score=340;Name=lod=32 NA 10q21.1 NA NA NA NA rs41305703 0.03 0.03 0.017 0.0195687 0.0547 NA 0.0476 0.0045 0.0041 0.05 NA 0.06 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.041877 3.041877 NA NA NA NA 0.014 NA 4.9453 1157 21 19713821 19713821 C T exonic TMPRSS15 NA synonymous SNV TMPRSS15:NM_002772:exon13:c.G1473A:p.A491A exonic ENSG00000154646 NA synonymous SNV ENSG00000154646:ENST00000284885:exon13:c.G1473A:p.A491A NA NA 21q21.1 NA NA NA NA rs2824751 0.17 0.17 0.16 0.183706 0.2505 0.1101 0.1499 0.1551 0.2536 0.23 0.12 0.16 0.15 0.2232 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114435 NA NA 0.247907 0.16364 NA 0.174 NA 4.9450596 1158 22 37603744 37603744 C T exonic SSTR3 NA synonymous SNV SSTR3:NM_001051:exon2:c.G99A:p.A33A exonic ENSG00000183473 NA synonymous SNV ENSG00000183473:ENST00000328544:exon2:c.G99A:p.A33A,ENSG00000183473:ENST00000402501:exon2:c.G99A:p.A33A NA NA 22q13.1 NA NA NA NA rs86583 0.42 0.42 0.405 0.407947 0.2247 0.5863 0.3343 0.5461 0.2781 0.23 0.63 0.33 0.52 0.2903 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.257406 NA NA 0.20686 0.484559 NA 0.312 NA 4.9448066 1158 7 37936530 37936530 T C exonic NME8 NA synonymous SNV NME8:NM_016616:exon17:c.T1603C:p.L535L exonic ENSG00000086288 NA synonymous SNV ENSG00000086288:ENST00000440017:exon16:c.T1603C:p.L535L,ENSG00000086288:ENST00000199447:exon17:c.T1603C:p.L535L NA NA 7p14.1 NA NA NA NA rs3213975 0.23 0.23 0.228 0.20647 0.2396 0.2292 0.2017 0.1672 0.2055 0.25 0.23 0.22 0.19 0.241 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.940681 NA NA 0.241512 0.205856 NA 0.145 NA 4.9445546 1158 19 43383775 43383775 T G UTR5 PSG1 NM_001184826:c.-42A>C,NM_001184825:c.-42A>C,NM_006905:c.-42A>C NA NA UTR5 ENSG00000231924 ENST00000436291:c.-42A>C,ENST00000595124:c.-42A>C,ENST00000595356:c.-42A>C,ENST00000403380:c.-42A>C,ENST00000312439:c.-42A>C,ENST00000244296:c.-42A>C NA NA NA NA 19q13.2 NA NA Name=3 NA rs12461039 0.2 0.2 0.169 0.251398 0.1014 0.4187 0.1787 0.1899 0.3681 0.1 0.4 0.12 0.17 0.1826 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189547 NA NA 0.104913 0.166998 NA 0.196 NA 4.9444204 1158 9 140711882 140711882 A C intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs73578877 0.13 0.13 0.144 0.167532 0.004 NA 0.0476 0.6067 NA NA NA 0.03 0.56 0.0477 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97543 NA NA 0.003953 0.48956 NA 0.152 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082231.3;CLNDSDB=.;CLNDSDBID=. 4.944347 1158 6 29901917 29901917 A G intergenic HCG4B,HLA-A dist=8489;dist=8330 NA NA ncRNA_exonic ENSG00000228078 NA NA NA Score=389;Name=lod=51 NA 6p22.1 NA NA NA NA rs9259920 0.06 0.06 0.053 0.0529153 0.0557 0.0506 0.0346 0.056 0.0613 0.05 0.08 0.05 0.05 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783619 NA NA NA NA NA NA NA 4.9443 1158 19 51261892 51261892 G A intergenic CLEC11A,GPR32 dist=32911;dist=11829 NA NA ncRNA_exonic ENSG00000269565 NA NA NA Score=548;Name=lod=226 NA 19q13.33 NA NA NA NA rs73046518 0.03 0.03 0.03 0.0327476 0.0557 0.004 0.0519 0.0121 0.0532 0.06 NA 0.05 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326798 NA 0.01 NA NA NA 0.029 NA 4.9443 1158 21 33975696 33975696 T G intronic C21orf59 NA NA NA intronic ENSG00000159079,ENSG00000265590 NA NA NA NA NA 21q22.11 NA NA Name=2 NA rs844995 0.04 0.04 0.036 0.0411342 0.0557 0.002 0.0303 0.0545 0.0562 0.05 0.0035 0.04 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674916 NA NA NA NA NA 0.08 NA 4.9443 1158 3 31774704 31774704 G A intronic OSBPL10 NA NA NA intronic ENSG00000144645 NA NA NA NA NA 3p23 NA NA Name=39 NA rs79996076 0.02 0.02 0.01 0.0221645 0.0169 0.0377 0.0086 0.0015 0.0491 0.02 0.03 0.01 NA 0.0222 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.154725 3.154725 NA 0.016744 0.003177 NA NA NA 4.944156 1158 5 179048449 179048449 T G intronic HNRNPH1 NA NA NA UTR5 ENSG00000169045 ENST00000521790:c.-185A>C NA NA Score=376;Name=lod=45 NA 5q35.3 NA NA Name=57 NA rs4535419 0.33 0.33 0.331 0.28135 0.4304 0.1706 0.3112 0.3109 0.181 0.44 0.17 0.35 0.34 0.3535 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.801019 1.801019 NA 0.438664 0.350136 NA 0.42 NA 4.9441027 1158 13 25367301 25367301 C T exonic RNF17 NA synonymous SNV RNF17:NM_001184993:exon10:c.C1057T:p.L353L,RNF17:NM_031277:exon10:c.C1057T:p.L353L exonic ENSG00000132972 NA synonymous SNV ENSG00000132972:ENST00000255324:exon10:c.C1057T:p.L353L,ENSG00000132972:ENST00000255325:exon10:c.C1060T:p.L354L,ENSG00000132972:ENST00000381921:exon10:c.C1057T:p.L353L NA NA 13q12.12 NA NA NA NA rs1158061 0.26 0.26 0.235 0.250599 0.2097 0.3542 0.3228 0.1074 0.3282 0.22 0.39 0.32 0.11 0.2683 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.921013 NA NA 0.244884 0.108034 NA 0.21 NA 4.9437826 1158 2 73677833 73677833 A G exonic ALMS1 NA synonymous SNV ALMS1:NM_015120:exon8:c.A4176G:p.Q1392Q exonic ENSG00000116127 NA synonymous SNV ENSG00000116127:ENST00000409009:exon7:c.A4050G:p.Q1350Q,ENSG00000116127:ENST00000264448:exon8:c.A4176G:p.Q1392Q,ENSG00000116127:ENST00000377715:exon8:c.A4176G:p.Q1392Q NA NA 2p13.1 NA NA NA NA rs6546836 0.32 0.32 0.338 0.338259 0.2256 0.0089 0.3847 0.7859 0.1554 0.23 0.01 0.34 0.79 0.2609 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199412 NA NA 0.236426 0.670692 ID=COSM1409404;OCCURENCE=1(large_intestine) 0.406 NA 4.9437406 1158 9 101829135 101829135 A T intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA Name=10 NA rs116994320 0.01 0.01 0.006 0.00519169 0.0189 NA 0.0072 NA 0.002 0.03 NA 0.01 NA 0.0162 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000674 NA NA 0.021163 0.003177 NA 0.007 NA 4.943737 1158 1 9307138 9307138 T C exonic H6PD NA synonymous SNV H6PD:NM_004285:exon3:c.T741C:p.A247A exonic ENSG00000049239 NA synonymous SNV ENSG00000049239:ENST00000377403:exon3:c.T741C:p.A247A,ENSG00000049239:ENST00000602477:exon3:c.T774C:p.A258A NA NA 1p36.22 NA NA NA NA rs11121350 0.3 0.3 0.292 0.275759 0.2445 0.4196 0.281 0.2867 0.1411 0.24 0.45 0.23 0.27 0.239 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534899 NA NA 0.239535 0.302996 NA 0.261 NA 4.9436316 1158 9 139371405 139371405 G C exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.C663G:p.G221G,SEC16A:NM_014866:exon3:c.C663G:p.G221G exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000290037:exon1:c.C129G:p.G43G,ENSG00000148396:ENST00000313050:exon1:c.C663G:p.G221G,ENSG00000148396:ENST00000371706:exon1:c.C129G:p.G43G,ENSG00000148396:ENST00000431893:exon1:c.C129G:p.G43G NA NA 9q34.3 NA NA NA NA rs11999532 0.16 0.16 0.141 0.135783 0.2535 0.0536 0.2565 0.0454 0.136 0.26 0.07 0.23 0.05 0.2098 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40138 NA NA 0.259754 0.077194 NA 0.13 NA 4.9436126 1158 19 57832257 57832257 T C intronic ZNF543 NA NA NA intronic ENSG00000178229 NA NA NA NA NA 19q13.43 NA Name=CTCF Name=32 NA rs4801462 0.34 0.34 0.291 0.326677 0.3241 0.4077 0.438 0.2171 0.3149 0.33 0.44 0.41 0.21 0.3673 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096759 NA NA 0.365 0.233772 NA 0.232 NA 4.9436 1158 1 209406337 209406337 A G intergenic PLXNA2,MIR205HG dist=988672;dist=195831 NA NA ncRNA_exonic ENSG00000224540 NA NA NA Score=707;Name=lod=999 NA 1q32.2 NA NA NA NA rs73085926 0.1 0.1 0.102 0.123403 0.0567 0.0218 0.0562 0.3011 0.1043 0.06 0.01 0.07 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855513 NA NA NA NA NA 0.123 NA 4.9433 1158 14 107022266 107022266 A G intergenic LINC00221,NONE dist=70737;dist=NONE NA NA ncRNA_exonic ENSG00000253241 NA NA NA Score=469;Name=lod=107 NA 14q32.33 NA NA NA NA rs4773999 0.11 0.11 0.105 0.159545 0.0567 0.1567 0.1455 0.1694 0.2648 0.06 0.15 0.1 0.16 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570575 NA NA NA NA NA 0.174 NA 4.9433 1158 16 1261086 1261086 C A intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA Name=Pol2 NA NA rs72552038 0.03 0.03 0.024 0.0335463 0.0567 NA 0.0317 NA 0.091 0.06 NA 0.03 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219531 NA NA NA NA NA 0.029 NA 4.9433 1158 1 236645670 236645670 C T exonic EDARADD NA synonymous SNV EDARADD:NM_080738:exon6:c.C339T:p.D113D,EDARADD:NM_145861:exon6:c.C369T:p.D123D exonic ENSG00000186197 NA synonymous SNV ENSG00000186197:ENST00000334232:exon6:c.C369T:p.D123D,ENSG00000186197:ENST00000359362:exon6:c.C339T:p.D113D NA NA 1q43 NA NA NA NA rs604070 0.14 0.14 0.138 0.133187 0.2753 0.1062 0.1095 0.0545 0.138 0.26 0.09 0.12 0.05 0.2024 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167057 NA NA 0.245698 0.080345 NA 0.087 NA 4.9432686 1158 1 111966291 111966291 C T exonic OVGP1 NA synonymous SNV OVGP1:NM_002557:exon5:c.G357A:p.K119K exonic ENSG00000085465 NA synonymous SNV ENSG00000085465:ENST00000540696:exon4:c.G177A:p.K59K,ENSG00000085465:ENST00000369732:exon5:c.G357A:p.K119K NA NA 1p13.2 NA NA NA NA rs954739 0.15 0.15 0.149 0.15016 0.2366 0.1389 0.1282 0.0598 0.2106 0.23 0.13 0.16 0.06 0.2227 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155597 NA NA 0.264419 0.088516 NA 0.174 NA 4.9429476 1158 8 131165086 131165086 A T intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA NA NA 8q24.21 NA Name=p300 Name=6 NA rs3935174 0.42 0.42 0.412 0.435503 0.3419 0.6637 0.3401 0.3011 0.546 0.34 0.67 0.35 0.32 0.3787 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876069 NA NA 0.336512 0.317295 ID=COSN168430;OCCURENCE=1(large_intestine) 0.341 NA 4.942888 1158 14 106866565 106866565 C A intergenic LINC00226,LINC00221 dist=121599;dist=71890 NA NA exonic ENSG00000211958 NA synonymous SNV ENSG00000211958:ENST00000390618:exon2:c.G189T:p.G63G Score=481;Name=lod=120 NA 14q32.33 NA NA NA NA rs58308167 0.33 0.33 0.314 0.229034 0.1054 0.2867 0.1643 0.3381 0.1953 0.18 0.4 0.27 0.51 0.2703 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.448927 NA NA 0.181414 0.445797 NA 0.246 NA 4.942886 1158 1 19415304 19415304 C T exonic UBR4 NA synonymous SNV UBR4:NM_020765:exon98:c.G14379A:p.K4793K exonic ENSG00000127481 NA synonymous SNV ENSG00000127481:ENST00000429347:exon8:c.G948A:p.K316K,ENSG00000127481:ENST00000543981:exon10:c.G1371A:p.K457K,ENSG00000127481:ENST00000375224:exon13:c.G1500A:p.K500K,ENSG00000127481:ENST00000375217:exon98:c.G14358A:p.K4786K,ENSG00000127481:ENST00000375226:exon98:c.G14307A:p.K4769K,ENSG00000127481:ENST00000375254:exon98:c.G14379A:p.K4793K,ENSG00000127481:ENST00000375267:exon98:c.G14379A:p.K4793K Score=525;Name=lod=182 NA 1p36.13 NA NA NA NA rs1043899 0.63 0.63 0.597 0.591853 0.5775 0.7589 0.6787 0.5091 0.4847 0.57 0.78 0.65 0.52 0.5807 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000913 NA NA 0.565698 0.527009 NA 0.645 NA 4.9427686 1158 5 168189724 168189724 G A intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA Name=3 NA rs41283179 0.01 0.01 0.006 0.00539137 0.0169 NA 0.0115 0.0015 NA 0.02 NA 0.01 0.002 0.0164 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.334502 2.334502 NA 0.023953 0.002724 NA 0.007 NA 4.942747 1158 1 19549759 19549759 G A intronic EMC1 NA NA NA ncRNA_intronic ENSG00000230424 NA NA NA NA NA 1p36.13 NA Name=HDAC2_(SC-6296),CEBPB,c-Jun,p300,SP1,HNF4G_(SC-6558),JunD NA NA rs710870 0.5 0.5 0.507 0.502796 0.3907 0.7222 0.3804 0.5144 0.4632 0.4 0.73 0.35 0.5 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692011 NA NA NA NA NA 0.522 NA 4.9426333 1158 19 19369435 19369435 A G exonic HAPLN4 NA synonymous SNV HAPLN4:NM_023002:exon4:c.T714C:p.S238S exonic ENSG00000187664 NA synonymous SNV ENSG00000187664:ENST00000291481:exon4:c.T714C:p.S238S NA NA 19p13.11 NA NA NA NA rs2074295 0.3 0.3 0.277 0.353035 0.2117 0.2589 0.3213 0.4675 0.4632 0.2 0.27 0.3 0.48 0.2867 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752399 NA NA 0.225803 0.426918 ID=COSM330370;OCCURENCE=2(breast),1(haematopoietic_and_lymphoid_tissue) 0.341 NA 4.9424636 1158 15 84581889 84581889 G A exonic ADAMTSL3 NA synonymous SNV ADAMTSL3:NM_207517:exon16:c.G1746A:p.P582P exonic ENSG00000156218 NA synonymous SNV ENSG00000156218:ENST00000286744:exon16:c.G1746A:p.P582P,ENSG00000156218:ENST00000567476:exon16:c.G1746A:p.P582P NA NA 15q25.2 NA NA NA NA rs12439867 0.34 0.34 0.284 0.386382 0.2117 0.3294 0.4914 0.4871 0.4141 0.2 0.33 0.43 0.49 0.3019 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640096 NA NA 0.210698 0.439855 NA 0.333 NA 4.9423686 1158 6 3978888 3978888 G A intergenic FAM50B,PRPF4B dist=127337;dist=42681 NA NA ncRNA_exonic ENSG00000216657 NA NA NA NA NA 6p25.2 NA Name=eGFP-GATA2,GATA2_(CG2-96),CTCF,c-Fos NA NA rs76950182 0.02 0.02 0.023 0.0169728 0.0577 NA 0.013 0.0045 0.0123 0.06 NA 0.01 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.581674 NA NA NA NA NA NA NA 4.9423 1158 6 30881021 30881021 A G intronic GTF2H4 NA NA NA intronic ENSG00000213780 NA NA NA NA NA 6p21.33 NA Name=TAF7_(SQ-8),Pol2 NA NA rs3218824 0.05 0.05 0.039 0.0341454 0.0577 0.003 0.0375 0.056 0.0102 0.06 0.01 0.04 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178861 NA NA NA NA NA 0.007 NA 4.9423 1158 8 30189777 30189777 T C intergenic MIR548O2,LOC100128750 dist=81564;dist=49858 NA NA ncRNA_exonic ENSG00000253346 NA NA NA Score=705;Name=lod=978 NA 8p12 NA NA NA NA rs17619523 0.03 0.03 0.016 0.0313498 0.0577 NA 0.072 0.0008 0.0491 0.06 NA 0.05 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609057 NA NA NA NA NA 0.08 NA 4.9423 1158 8 30210416 30210416 G A intergenic MIR548O2,LOC100128750 dist=102203;dist=29219 NA NA ncRNA_exonic ENSG00000127589 NA NA NA Score=874;Name=lod=4749 NA 8p12 NA NA NA NA rs117064690 0.03 0.03 0.015 0.033746 0.0577 NA 0.0764 0.0076 0.0491 0.06 NA 0.06 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.209337 NA NA NA NA NA 0.072 NA 4.9423 1158 10 102051244 102051244 G T intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA NA Name=9 NA rs35423189 0.07 0.07 0.071 0.0826677 0.0577 0.0605 0.0591 0.121 0.0961 0.06 0.07 0.07 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26629 NA NA NA NA NA 0.051 NA 4.9423 1158 5 150406437 150406437 A G intronic GPX3 NA NA NA intronic ENSG00000211445 NA NA NA NA NA 5q33.1 NA NA Name=31 NA rs869976 0.08 0.08 0.097 0.106629 0.007 0.0357 0.0375 0.27 0.1104 0.004 0.04 0.06 0.26 0.0422 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346308 NA NA 0.008513 0.215653 NA 0.109 NA 4.942287 1158 6 30890569 30890569 G T intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA Name=JunD Name=15 NA rs753726 0.24 0.24 0.258 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3249 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642433 NA NA 0.377031 0.145557 NA 0.283 NA 4.942169 1158 14 23777099 23777099 G A exonic BCL2L2,BCL2L2-PABPN1 NA synonymous SNV BCL2L2:NM_001199839:exon3:c.G123A:p.P41P,BCL2L2-PABPN1:NM_001199864:exon3:c.G123A:p.P41P,BCL2L2:NM_004050:exon3:c.G123A:p.P41P exonic ENSG00000129473,ENSG00000258643 NA synonymous SNV ENSG00000129473:ENST00000554635:exon2:c.G123A:p.P41P,ENSG00000258643:ENST00000557008:exon2:c.G123A:p.P41P,ENSG00000129473:ENST00000250405:exon3:c.G123A:p.P41P,ENSG00000258643:ENST00000553781:exon3:c.G123A:p.P41P,ENSG00000258643:ENST00000556100:exon3:c.G123A:p.P41P,ENSG00000129473:ENST00000557236:exon3:c.G123A:p.P41P,ENSG00000129473:ENST00000557579:exon3:c.G123A:p.P41P,ENSG00000129473:ENST00000553824:exon4:c.G123A:p.P41P NA NA 14q11.2 NA NA NA NA rs2231301 0.29 0.29 0.282 0.249002 0.2336 0.4752 0.3069 0.0454 0.2658 0.25 0.52 0.31 0.06 0.2611 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538092 NA NA 0.229821 0.078983 NA 0.254 NA 4.9421456 1158 4 82369205 82369205 T A intronic RASGEF1B NA NA NA intronic ENSG00000138670 NA NA NA NA NA 4q21.21 NA Name=FOSL1_(SC-183) Name=7 NA rs1077803 0.41 0.41 0.439 0.453674 0.341 0.2252 0.2421 0.8661 0.3978 0.35 0.2 0.26 0.87 0.3688 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095031 NA NA 0.34814 0.783477 ID=COSN167259;OCCURENCE=1(large_intestine) 0.478 NA 4.94206 1158 6 90529343 90529343 C T UTR5 MDN1 NM_014611:c.-17G>A NA NA UTR5 ENSG00000112159 ENST00000369393:c.-17G>A,ENST00000428876:c.-17G>A,ENST00000439638:c.-17G>A NA NA NA NA 6q15 NA Name=HEY1,Sin3Ak-20,Pol2-4H8,Pol2,HMGN3,TAF1 NA NA rs28372875 0.07 0.07 0.061 0.08127 0.1481 0.0437 0.0908 0.0061 0.1462 0.13 0.03 0.09 0.01 0.1105 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365547 1.365547 NA 0.132674 0.027236 NA 0.13 NA 4.9420594 1158 6 32800224 32800224 C A exonic TAP2 NA synonymous SNV TAP2:NM_018833:exon7:c.G1158T:p.G386G exonic ENSG00000204267,ENSG00000250264 NA synonymous SNV ENSG00000204267:ENST00000374897:exon7:c.G1158T:p.G386G,ENSG00000204267:ENST00000374899:exon7:c.G1158T:p.G386G,ENSG00000250264:ENST00000452392:exon7:c.G1158T:p.G386G NA NA 6p21.32 NA NA NA NA rs2228397 0.25 0.25 0.218 0.244209 0.2227 0.248 0.3112 0.1967 0.2791 0.22 0.27 0.27 0.24 0.2546 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684168 NA NA 0.247693 0.23393 NA 0.181 NA 4.9416736 1158 2 89309542 89309542 T G intergenic MIR4436A,NONE dist=197574;dist=NONE NA NA exonic ENSG00000241755 NA synonymous SNV ENSG00000241755:ENST00000493819:exon2:c.A288C:p.T96T Score=472;Name=lod=110 NA 2p11.2 NA NA NA NA rs150068501 0.22 0.22 0.119 0.266374 0.163 0.4048 0.2767 0.1884 0.3282 0.13 0.38 0.22 0.16 0.2228 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09322 NA NA 0.172718 0.174457 ID=COSN166175;OCCURENCE=1(breast) 0.101 NA 4.941482 1158 2 152670892 152670892 T C intronic ARL5A NA NA NA intronic ENSG00000162980 NA NA NA Score=243;Name=lod=13 NA 2q23.3 NA NA NA NA rs72866498 0.02 0.02 0.019 0.0181709 0.0586 NA 0.0317 0.003 0.0061 0.05 NA 0.04 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.002615 2.002615 NA NA NA NA 0.051 NA 4.9414 1158 5 169081315 169081315 A C intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA Name=4 NA rs12656935 0.06 0.06 0.057 0.0792732 0.0586 0.1042 0.0447 0.0318 0.1636 0.07 0.1 0.06 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394135 NA NA NA NA NA 0.065 NA 4.9414 1158 22 35778961 35778961 A C intronic HMOX1 NA NA NA intronic ENSG00000100292 NA NA NA NA NA 22q12.3 NA NA Name=6 NA rs5995097 0.05 0.05 0.042 0.0357428 0.0586 0.0506 0.0216 0.0287 0.0164 0.06 0.05 0.02 0.04 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390973 NA NA NA NA NA 0.036 NA 4.9414 1158 19 46973981 46973981 G A exonic PNMAL1 NA synonymous SNV PNMAL1:NM_001103149:exon2:c.C312T:p.A104A,PNMAL1:NM_018215:exon2:c.C312T:p.A104A exonic ENSG00000182013 NA synonymous SNV ENSG00000182013:ENST00000313683:exon2:c.C312T:p.A104A,ENSG00000182013:ENST00000438932:exon2:c.C312T:p.A104A NA NA 19q13.32 NA NA NA NA rs4803960 0.24 0.24 0.244 0.236222 0.2485 0.1796 0.2089 0.3313 0.1728 0.25 0.15 0.26 0.33 0.232 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.523375 1.523375 NA 0.244884 0.348616 NA 0.312 NA 4.9412826 1158 12 11214360 11214360 C T exonic TAS2R46 NA synonymous SNV TAS2R46:NM_176887:exon1:c.G534A:p.T178T exonic ENSG00000226761 NA synonymous SNV ENSG00000226761:ENST00000533467:exon1:c.G534A:p.T178T NA NA 12p13.2 NA NA NA NA rs73260771 0.17 0.17 0.146 0.124002 0.2773 NA 0.2248 0.1029 0.0511 0.28 NA 0.22 0.14 0.1879 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716997 NA NA 0.260354 0.134711 NA 0.094 NA 4.9411126 1158 14 106926287 106926287 G A intergenic LINC00226,LINC00221 dist=181321;dist=12168 NA NA exonic ENSG00000232216 NA synonymous SNV ENSG00000232216:ENST00000434710:exon2:c.C255T:p.G85G Score=436;Name=lod=79 NA 14q32.33 NA NA NA NA rs2467911 0.28 0.28 0.258 NA NA NA NA NA NA 0.28 0.17 0.22 0.43 0.2919 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155743 NA NA 0.267461 0.408978 NA 0.283 NA 4.940639 1158 11 59210761 59210761 C G exonic OR5A1 NA synonymous SNV OR5A1:NM_001004728:exon1:c.C120G:p.T40T exonic ENSG00000172320 NA synonymous SNV ENSG00000172320:ENST00000302030:exon1:c.C120G:p.T40T NA NA 11q12.1 NA NA NA NA rs11605572 0.16 0.16 0.145 0.128195 0.2525 0.1111 0.1326 0.0333 0.1431 0.27 0.12 0.16 0.05 0.2101 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.574326 NA NA 0.263562 0.065198 NA 0.116 NA 4.9405046 1158 1 118624336 118624336 T C intronic SPAG17 NA NA NA intronic ENSG00000155761 NA NA NA NA NA 1p12 NA Name=p300,c-Myc NA NA rs12043257 0.12 0.12 0.116 0.135184 0.0596 0.2877 0.0447 0.0862 0.1861 0.06 0.24 0.04 0.11 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542229 NA NA NA NA NA 0.043 NA 4.9404 1158 2 174350958 174350958 C T intergenic CDCA7,SP3 dist=117240;dist=420229 NA NA ncRNA_exonic ENSG00000226131 NA NA NA Score=516;Name=lod=167 NA 2q31.1 NA NA NA NA rs10497392 0.13 0.13 0.13 0.140375 0.0596 0.0357 0.0836 0.3661 0.0665 0.06 0.03 0.11 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153803 NA NA NA NA NA 0.116 NA 4.9404 1158 3 149182086 149182086 A T intergenic TM4SF1,TM4SF4 dist=86518;dist=10282 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=528;Name=lod=187 NA 3q25.1 NA NA NA NA rs60028604 0.05 0.05 NA 0.0443291 0.0596 0.0675 0.0576 0.0121 0.0389 0.07 0.08 0.03 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.851528 1.851528 NA NA NA NA NA NA 4.9404 1158 6 29925281 29925281 C G intergenic HLA-A,HCG9 dist=11620;dist=17611 NA NA ncRNA_exonic ENSG00000235290 NA NA NA Score=441;Name=lod=83 NA 6p22.1 NA NA NA NA rs117485380 0.08 0.08 0.049 0.0940495 0.0596 0.2321 0.0403 0.0008 0.1513 0.06 0.2 0.04 0.002 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.466306 2.466306 NA NA NA NA 0.094 NA 4.9404 1158 12 55916900 55916900 T G intergenic OR6C68,OR6C4 dist=29800;dist=28111 NA NA ncRNA_exonic ENSG00000234670 NA NA NA Score=401;Name=lod=57 NA 12q13.2 NA NA NA NA rs4301049 0.09 0.09 0.103 0.0948482 0.0596 0.001 0.0447 0.267 0.0307 0.06 0.0017 0.05 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.642079 2.642079 NA NA NA NA 0.21 NA 4.9404 1158 15 66672083 66672083 A T intergenic TIPIN,MAP2K1 dist=23029;dist=7128 NA NA ncRNA_exonic ENSG00000240821 NA NA NA Score=702;Name=lod=951 NA 15q22.31 NA NA NA NA rs71398264 0.03 0.03 0.03 0.0195687 0.0596 0.001 0.0288 0.0061 0.0092 0.07 0.0017 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.423765 1.423765 NA NA NA NA 0.072 NA 4.9404 1158 3 183685534 183685534 A G exonic ABCC5 NA synonymous SNV ABCC5:NM_005688:exon12:c.T1782C:p.C594C exonic ENSG00000114770 NA synonymous SNV ENSG00000114770:ENST00000265586:exon11:c.T1782C:p.C594C,ENSG00000114770:ENST00000334444:exon12:c.T1782C:p.C594C Score=620;Name=lod=443 NA 3q27.1 NA NA NA NA rs939336 0.69 0.69 0.702 0.691693 0.5746 0.8621 0.5951 0.7897 0.5726 0.56 0.86 0.57 0.75 0.587 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110434 NA NA 0.564692 0.765593 NA 0.696 NA 4.9403746 1158 1 19447843 19447843 C G exonic UBR4 NA synonymous SNV UBR4:NM_020765:exon68:c.G9981C:p.L3327L exonic ENSG00000127481 NA synonymous SNV ENSG00000127481:ENST00000425413:exon21:c.G2805C:p.L935L,ENSG00000127481:ENST00000417040:exon41:c.G6039C:p.L2013L,ENSG00000127481:ENST00000375217:exon68:c.G9960C:p.L3320L,ENSG00000127481:ENST00000375226:exon68:c.G9909C:p.L3303L,ENSG00000127481:ENST00000375254:exon68:c.G9981C:p.L3327L,ENSG00000127481:ENST00000375267:exon68:c.G9981C:p.L3327L Score=534;Name=lod=197 NA 1p36.13 NA NA NA NA rs1044010 0.64 0.64 0.607 0.600439 0.5775 0.7589 0.6844 0.5424 0.4796 0.56 0.78 0.66 0.58 0.5831 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271202 NA NA 0.565814 0.549024 ID=COSM1337405;OCCURENCE=1(large_intestine) 0.659 NA 4.9402526 1158 7 37951726 37951726 G A exonic SFRP4 NA synonymous SNV SFRP4:NM_003014:exon4:c.C786T:p.R262R exonic ENSG00000106483 NA synonymous SNV ENSG00000106483:ENST00000436072:exon4:c.C786T:p.R262R,ENSG00000106483:ENST00000447200:exon5:c.C384T:p.R128R Score=472;Name=lod=110 NA 7p14.1 NA NA NA NA rs1132553 0.5 0.5 0.509 0.439097 0.5825 0.3651 0.451 0.4501 0.3446 0.57 0.38 0.51 0.52 0.5331 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981266 NA NA 0.611163 0.477758 NA 0.493 NA 4.9399036 1158 7 82544987 82544987 A G exonic PCLO NA synonymous SNV PCLO:NM_014510:exon7:c.T12315C:p.H4105H,PCLO:NM_033026:exon7:c.T12315C:p.H4105H exonic ENSG00000186472 NA synonymous SNV ENSG00000186472:ENST00000437081:exon2:c.T2475C:p.H825H,ENSG00000186472:ENST00000333891:exon7:c.T12315C:p.H4105H,ENSG00000186472:ENST00000423517:exon7:c.T12315C:p.H4105H NA NA 7q21.11 NA NA NA NA rs17156844 0.41 0.41 0.407 0.426717 0.2028 0.5466 0.4986 0.5023 0.3804 0.2 0.56 0.46 0.5 0.3028 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679213 NA NA 0.221273 0.408488 NA 0.413 NA 4.9397936 1158 2 207422325 207422325 A G intronic ADAM23 NA NA NA intronic ENSG00000114948 NA NA NA NA NA 2q33.3 NA NA Name=8 NA rs72937523 0.03 0.03 0.03 0.034345 0.0606 0.002 0.0418 0.0068 0.0726 0.06 0.0017 0.06 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614183 NA NA NA NA NA 0.072 NA 4.9394 1158 3 147309337 147309337 G A intergenic ZIC1,AGTR1 dist=174831;dist=1106321 NA NA ncRNA_exonic ENSG00000240804 NA NA NA NA NA 3q24 NA NA Name=2 NA rs62276285 0.06 0.06 0.063 0.0776757 0.0606 0.0536 0.0317 0.1029 0.1186 0.06 0.06 0.04 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306774 NA NA NA NA NA 0.058 NA 4.9394 1158 5 109155658 109155658 A G intronic MAN2A1 NA NA NA intronic ENSG00000112893 NA NA NA NA NA 5q21.3 NA Name=CTCF NA NA rs10055921 0.06 0.06 0.068 0.0850639 0.0606 0.005 0.0403 0.1755 0.1022 0.05 NA 0.06 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628261 NA NA NA NA NA 0.065 NA 4.9394 1158 21 44283785 44283785 G A intronic WDR4 NA NA NA intronic ENSG00000160193 NA NA NA NA NA 21q22.3 NA NA Name=4 NA rs112237505 0.03 0.03 0.027 0.0289537 0.0606 0.001 0.0274 0.0091 0.0532 0.07 0.0017 0.03 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703495 NA NA NA NA NA NA NA 4.9394 1158 22 45255580 45255580 G C intronic ARHGAP8,PRR5-ARHGAP8 NA NA NA exonic ENSG00000248405 NA unknown UNKNOWN NA NA 22q13.31 NA NA NA NA rs7510897 0.23 0.23 0.232 0.224641 0.1899 0.3562 0.1066 0.2088 0.2301 0.19 0.39 0.13 0.18 0.2011 0.39 . . . . . . . . 1.000 P . . . . -0.926 T 0.000 T . 1.559 11.17 -0.836 -0.197 0.904 3.538 1.559453 1.559453 NA 0.170156 0.205856 NA 0.254 NA 4.938844 1158 1 118571089 118571089 C A intronic SPAG17 NA NA NA intronic ENSG00000155761 NA NA NA NA NA 1p12 NA NA Name=6 NA rs17037839 0.12 0.12 0.123 0.13778 0.0616 0.3204 0.0432 0.0688 0.1881 0.06 0.29 0.04 0.08 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000181 NA NA NA NA NA 0.043 NA 4.9384 1158 9 429617 429617 C T intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA Score=278;Name=lod=18 NA 9p24.3 NA NA NA NA rs77193342 0.03 0.03 0.023 0.0259585 0.0616 0.0069 0.0303 0.0038 0.0358 0.06 0.01 0.04 0.01 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.075881 3.075881 NA NA NA NA 0.051 NA 4.9384 1158 9 109879319 109879319 T G intergenic MIR548Q,RAD23B dist=30603;dist=166198 NA NA ncRNA_exonic ENSG00000225531 NA NA NA Score=740;Name=lod=1361 NA 9q31.2 NA NA NA NA rs4979300 0.03 0.03 0.028 0.023762 0.0616 NA 0.0231 0.0234 0.0102 0.06 NA 0.02 0.02 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984334 NA NA NA NA NA 0.072 NA 4.9384 1158 12 58217927 58217927 C T intronic CTDSP2 NA NA NA intronic ENSG00000175215 NA NA NA NA NA 12q14.1 NA Name=JunD NA NA rs78073833 0.03 0.03 0.028 0.0263578 0.0616 0.001 0.0375 0.0076 0.0337 0.06 NA 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532148 NA NA NA NA NA 0.014 NA 4.9384 1158 19 2110746 2110746 G A exonic AP3D1 NA synonymous SNV AP3D1:NM_003938:exon25:c.C2949T:p.S983S,AP3D1:NM_001261826:exon27:c.C3135T:p.S1045S exonic ENSG00000065000 NA synonymous SNV ENSG00000065000:ENST00000350812:exon20:c.C2442T:p.S814S,ENSG00000065000:ENST00000345016:exon25:c.C2949T:p.S983S,ENSG00000065000:ENST00000356926:exon26:c.C2826T:p.S942S,ENSG00000065000:ENST00000355272:exon27:c.C3135T:p.S1045S NA NA 19p13.3 NA NA NA NA rs20567 0.32 0.32 0.315 0.32508 0.1968 0.3333 0.2075 0.4879 0.3119 0.19 0.38 0.22 0.52 0.311 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895521 NA NA 0.220612 0.451998 NA 0.29 NA 4.9382546 1158 18 67801786 67801786 T C intronic RTTN NA NA NA intronic ENSG00000176225 NA NA NA NA NA 18q22.2 NA NA NA NA rs75225724 0.01 0.01 0.007 0.00758786 0.0199 NA 0.0072 0.0008 0.0123 0.02 NA 0.01 NA 0.0175 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229171 NA NA 0.024375 0.005982 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118202.2;CLNDSDB=.;CLNDSDBID=. 4.938225 1158 14 106174261 106174261 C G intergenic ELK2AP,KIAA0125 dist=35117;dist=209577 NA NA exonic ENSG00000211895 NA nonsynonymous SNV ENSG00000211895:ENST00000390547:exon2:c.G528C:p.E176D NA NA 14q32.33 NA Name=Pol2-4H8 NA NA rs1407 0.33 0.33 0.225 0.330072 0.2833 0.3304 0.513 0.146 0.4969 0.3 0.45 0.46 0.16 0.345 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349298 NA NA 0.266879 0.176678 NA 0.029 NA 4.9381544 1158 10 115312811 115312811 T C UTR5 HABP2 NM_004132:c.-70T>C NA NA UTR5 ENSG00000148702 ENST00000351270:c.-70T>C NA NA NA NA 10q25.3 NA NA Name=15 NA rs2240879 0.31 0.31 0.287 0.322284 0.3956 0.1657 0.2939 0.3003 0.4581 0.4 0.17 0.32 0.3 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964017 NA NA NA NA NA 0.319 NA 4.9377334 1158 14 24534827 24534827 C G intronic LRRC16B NA NA NA intronic ENSG00000186648 NA NA NA Score=304;Name=lod=23 NA 14q11.2 NA NA NA NA rs35625248 0.01 0.01 0.009 0.00778754 0.0229 NA 0.0115 NA 0.0082 0.02 NA 0.01 0.002 0.0155 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040566 NA NA 0.02407 0.004085 NA 0.007 NA 4.93753 1158 2 139170794 139170794 T A intergenic HNMT,SPOPL dist=396860;dist=88556 NA NA ncRNA_exonic ENSG00000232915 NA NA NA Score=542;Name=lod=213 NA 2q22.1 NA NA NA NA rs79138620 0.03 0.03 0.023 0.0169728 0.0626 NA 0.013 0.0076 0.0031 0.07 NA 0.01 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35312 NA NA NA NA NA 0.014 NA 4.9374 1158 6 38820943 38820943 C T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA Name=MafK_(ab50322) NA NA rs112343474 0.01 0.01 NA 0.00638978 0.0169 NA 0.0115 0.0008 0.0061 0.01 NA 0.01 NA 0.0154 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017913 NA NA 0.030486 0.004768 NA NA NA 4.937214 1158 17 10537165 10537165 T C intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA Name=Oct-2,POU2F2 NA NA rs77479161 0.03 0.03 0.024 0.0221645 0.0636 NA 0.0331 0.0053 0.0174 0.06 NA 0.02 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543216 NA NA NA NA NA 0.029 NA 4.9364 1158 6 37751410 37751410 A C intergenic MDGA1,ZFAND3 dist=85644;dist=35897 NA NA intergenic ENSG00000112139,ENSG00000225945 dist=84328;dist=32143 NA NA NA NA 6p21.2 NA Name=Pol2 Name=37 NA rs6458024 0.53 0.53 0.531 0.527157 0.3976 0.7728 0.3545 0.5666 0.4765 0.4 0.77 0.38 0.57 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255686 NA NA NA NA NA 0.565 NA 4.9357334 1158 16 10205788 10205788 A G intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs11646734 0.42 0.42 0.415 0.427716 0.3976 0.4881 0.3573 0.3986 0.4857 0.4 0.49 0.38 0.4 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536947 NA NA NA NA NA 0.333 NA 4.9357333 1158 8 28384712 28384712 A G exonic FZD3 NA synonymous SNV FZD3:NM_145866:exon4:c.A435G:p.L145L,FZD3:NM_017412:exon5:c.A435G:p.L145L exonic ENSG00000104290 NA synonymous SNV ENSG00000104290:ENST00000537916:exon4:c.A435G:p.L145L,ENSG00000104290:ENST00000240093:exon5:c.A435G:p.L145L Score=607;Name=lod=389 NA 8p21.1 NA NA NA NA rs2241802 0.54 0.54 0.533 0.542332 0.5944 0.5675 0.598 0.3949 0.6227 0.6 0.53 0.58 0.45 0.569 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283961 NA NA 0.567674 0.425556 NA 0.529 NA 4.9355926 1158 1 220490046 220490046 G A intergenic RAB3GAP2,MARK1 dist=44203;dist=211522 NA NA ncRNA_exonic ENSG00000232883 NA NA NA Score=542;Name=lod=212 NA 1q41 NA NA NA NA rs7516304 0.15 0.15 0.16 0.159545 0.0646 0.2133 0.1441 0.2519 0.0879 0.06 0.24 0.11 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959258 NA NA NA NA NA 0.152 NA 4.9354 1158 9 29826456 29826456 A G intergenic LINGO2,LOC401497 dist=613458;dist=562477 NA NA ncRNA_exonic ENSG00000230097 NA NA NA Score=511;Name=lod=159 NA 9p21.1 NA NA NA NA rs16915335 0.11 0.11 0.139 0.11861 0.0646 0.0367 0.049 0.3132 0.045 0.06 0.05 0.05 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345452 NA NA NA NA NA 0.145 NA 4.9354 1158 14 54458283 54458283 C A intergenic BMP4,CDKN3 dist=34729;dist=405390 NA NA ncRNA_exonic ENSG00000224004 NA NA NA Score=489;Name=lod=130 NA 14q22.2 NA NA NA NA rs117177052 0.05 0.05 0.039 0.0351438 0.0646 NA 0.0403 0.056 0.0092 0.07 NA 0.05 0.06 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.739325 NA NA NA NA NA 0.08 NA 4.9354 1158 1 247769592 247769592 C T exonic OR2G3 NA synonymous SNV OR2G3:NM_001001914:exon1:c.C705T:p.H235H exonic ENSG00000177476 NA synonymous SNV ENSG00000177476:ENST00000320002:exon1:c.C705T:p.H235H NA NA 1q44 NA NA NA NA rs1151683 0.31 0.31 0.278 0.309904 0.2217 0.3413 0.3689 0.3048 0.3333 0.24 0.35 0.35 0.34 0.2776 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748236 NA NA 0.232326 0.304585 NA 0.304 NA 4.9350406 1158 5 140803241 140803241 C A exonic PCDHGA11 NA nonsynonymous SNV PCDHGA11:NM_032091:exon1:c.C2447A:p.S816Y intronic ENSG00000081853,ENSG00000204956,ENSG00000253305,ENSG00000253485,ENSG00000253537,ENSG00000253731,ENSG00000253767,ENSG00000253846,ENSG00000253873,ENSG00000253910,ENSG00000253953,ENSG00000254122,ENSG00000254221,ENSG00000254245,ENSG00000261934,ENSG00000262209,ENSG00000262576 NA NA NA NA NA 5q31.3 NA NA NA NA rs57195665 0.1 0.1 0.084 0.113219 0.0596 0.1171 0.1499 0.1195 0.1299 0.07 0.12 0.13 0.11 0.0978 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.014045 3.014045 NA 0.074231 0.11285 NA 0.08 NA 4.9350357 1159 10 27349268 27349268 A G intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA Score=300;Name=lod=22 NA 10p12.1 NA NA NA NA rs149655759 0.01 0.01 0.005 0.00958466 0.0209 0.001 0.0159 NA 0.0153 0.02 NA 0.02 NA 0.0192 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123078 NA NA 0.025197 0.004422 NA 0.007 NA 4.934703 1159 17 36047276 36047276 G T UTR3 HNF1B NM_001165923:c.*99C>A,NM_000458:c.*99C>A NA NA UTR3 ENSG00000108753 ENST00000225893:c.*99C>A,ENST00000561193:c.*99C>A,ENST00000427275:c.*7C>A,ENST00000560016:c.*7C>A NA NA NA NA 17q12 Score=916;Name=V$AREB6_03 NA NA NA rs2229295 0.24 0.24 0.27 0.268371 0.1988 0.1042 0.1686 0.553 0.1953 0.17 0.1 0.19 0.53 0.1999 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.44746 1.44746 NA NA NA NA 0.123 NA 4.9346334 1159 14 91059742 91059742 G A intronic TTC7B NA NA NA intronic ENSG00000165914 NA NA NA NA NA 14q32.11 NA NA Name=2 NA rs118061128 0.03 0.03 0.038 0.0245607 0.0656 0.001 0.0504 0.0083 0.0102 0.07 0.0017 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313838 NA NA NA NA NA 0.022 NA 4.9344 1159 18 10637238 10637238 A G intergenic NAPG,PIEZO2 dist=84472;dist=33006 NA NA ncRNA_exonic ENSG00000265038 NA NA NA Score=488;Name=lod=128 NA 18p11.22 NA NA NA NA rs111911862 0.03 0.03 0.02 0.0217652 0.0656 0.001 0.0202 0.003 0.0245 0.07 NA 0.02 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964323 NA NA NA NA NA NA NA 4.9344 1159 8 125035788 125035788 G C exonic FER1L6 NA synonymous SNV FER1L6:NM_001039112:exon18:c.G2238C:p.A746A exonic ENSG00000214814 NA synonymous SNV ENSG00000214814:ENST00000399018:exon17:c.G2238C:p.A746A,ENSG00000214814:ENST00000522917:exon18:c.G2238C:p.A746A NA NA 8q24.13 NA Name=PU.1 NA NA rs4358790 0.57 0.57 0.584 0.551917 0.5924 0.5198 0.3948 0.68 0.4816 0.58 0.52 0.46 0.7 0.5422 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779588 NA NA 0.597729 0.64771 ID=COSM150538;OCCURENCE=1(stomach) 0.529 NA 4.9343376 1159 6 112537682 112537682 A G intronic LAMA4 NA NA NA intronic ENSG00000112769 NA NA NA NA NA 6q21 NA NA NA NA rs78871662 0.01 0.01 0.011 0.0121805 0.0268 NA 0.0144 0.0023 0.0215 0.03 NA 0.01 0.01 0.0197 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450921 NA NA 0.019535 0.005901 NA 0.007 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037342.1|RCV000126538.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.933965 1159 9 33625082 33625082 G C ncRNA_exonic ANXA2P2 NA NA NA ncRNA_exonic ENSG00000231991 NA NA NA Score=667;Name=lod=687 NA 9p13.3 NA NA NA NA rs10758216 0.31 0.31 0.3 0.297724 0.3777 0.2956 0.3256 0.2905 0.2076 0.36 0.26 0.33 0.27 0.3553 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01577 NA NA NA NA ID=COSM150592;OCCURENCE=1(stomach) 0.428 NA 4.9336666 1159 11 124793716 124793716 G A exonic HEPACAM NA synonymous SNV HEPACAM:NM_152722:exon3:c.C618T:p.R206R exonic ENSG00000165478 NA synonymous SNV ENSG00000165478:ENST00000298251:exon3:c.C618T:p.R206R NA NA 11q24.2 NA NA NA NA rs10790716 0.15 0.15 0.136 0.135982 0.2624 0.0714 0.1513 0.1074 0.1002 0.25 0.08 0.15 0.09 0.2041 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943136 NA NA 0.266574 0.136756 NA 0.152 NA 4.9335926 1159 3 197574960 197574960 G A intronic LRCH3 NA NA NA intronic ENSG00000186001 NA NA NA NA NA 3q29 NA NA Name=69 NA rs77727730 0.03 0.03 0.033 0.0363419 0.0666 0.001 0.0288 0.028 0.0583 0.07 NA 0.04 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133571 NA NA NA NA NA 0.036 NA 4.9334 1159 4 41266046 41266046 C A intronic UCHL1 NA NA NA intronic ENSG00000154277 NA NA NA NA NA 4p13 NA NA Name=4 NA rs71608068 0.03 0.03 0.025 0.0257588 0.0666 0.004 0.0202 0.0008 0.044 0.08 0.01 0.02 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644747 NA NA NA NA NA 0.014 NA 4.9334 1159 10 135093511 135093511 C T intronic TUBGCP2 NA NA NA intronic ENSG00000130640 NA NA NA NA NA 10q26.3 NA NA Name=5 NA rs41299173 0.03 0.03 0.03 0.0227636 0.0666 0.001 0.0288 0.0083 0.0153 0.07 NA 0.04 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096746 NA NA NA NA NA 0.014 NA 4.9334 1159 13 52482451 52482451 G A intergenic CCDC70,ATP7B dist=42079;dist=24355 NA NA ncRNA_exonic ENSG00000232872 NA NA NA NA NA 13q14.3 NA Name=NFKB NA NA rs113880756 0.05 0.05 0.086 0.0623003 0.0666 0.0813 0.036 0.025 0.1074 0.07 0.08 0.03 0.03 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854266 NA NA NA NA NA 0.043 NA 4.9334 1159 13 79664926 79664926 T C intergenic LINC00331,RBM26 dist=250741;dist=229174 NA NA ncRNA_exonic ENSG00000236277 NA NA NA Score=647;Name=lod=569 NA 13q31.1 NA NA NA NA rs58532358 0.07 0.07 0.07 0.0780751 0.0666 NA 0.0749 0.1868 0.0256 0.06 NA 0.06 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003075 NA NA NA NA NA 0.152 NA 4.9334 1159 6 160211728 160211728 T G intronic MRPL18 NA NA NA intronic ENSG00000112110 NA NA NA NA NA 6q25.3 NA Name=Pol2 Name=32 NA rs11757681 0.37 0.37 0.325 0.379992 0.5139 0.1627 0.5965 0.2466 0.4928 0.53 0.15 0.56 0.25 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064503 NA NA 0.552797 0.273121 NA 0.312 NA 4.933303 1159 19 16060021 16060021 C T exonic OR10H4 NA synonymous SNV OR10H4:NM_001004465:exon1:c.C204T:p.S68S exonic ENSG00000176231 NA synonymous SNV ENSG00000176231:ENST00000322107:exon1:c.C204T:p.S68S NA NA 19p13.12 NA NA NA NA rs16980821 0.25 0.25 0.275 0.241613 0.2644 0.0526 0.1772 0.4629 0.1595 0.25 0.07 0.23 0.48 0.2306 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.346344 NA NA 0.238372 0.419655 NA 0.333 NA 4.9332946 1159 3 98503776 98503776 A G intronic ST3GAL6 NA NA NA intronic ENSG00000064225 NA NA NA NA NA 3q12.1 NA Name=STAT3 Name=45 NA rs999147 0.29 0.29 0.284 0.309105 0.3429 0.2202 0.3199 0.3374 0.32 0.36 0.19 0.3 0.29 0.3532 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079203 NA NA 0.370814 0.348162 NA 0.304 NA 4.933086 1159 12 30872178 30872178 G A intronic CAPRIN2 NA NA NA UTR3 ENSG00000110888 ENST00000537553:c.*3009C>T NA NA NA NA 12p11.21 NA NA Name=83 NA rs73079962 0.05 0.05 0.05 0.0625 0.0805 0.0149 0.0764 0.0287 0.1288 0.07 0.01 0.08 0.04 0.0708 0.082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.353034 1.353034 NA 0.082442 0.030867 NA 0.072 NA 4.9329247 1159 13 111111173 111111173 G A exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon22:c.G1488A:p.P496P exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon22:c.G1488A:p.P496P NA NA 13q34 Score=908;Name=V$NRF2_01 NA NA NA rs7990214 0.5 0.5 0.503 0.491414 0.5974 0.2232 0.4942 0.6505 0.4417 0.6 0.2 0.56 0.66 0.5288 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447361 NA NA 0.607613 0.648588 NA 0.543 NA 4.9328536 1159 3 47452786 47452786 G A exonic PTPN23 NA synonymous SNV PTPN23:NM_015466:exon20:c.G3498A:p.E1166E exonic ENSG00000076201 NA synonymous SNV ENSG00000076201:ENST00000431726:exon19:c.G3120A:p.E1040E,ENSG00000076201:ENST00000265562:exon20:c.G3498A:p.E1166E Score=467;Name=lod=105 NA 3p21.31 NA NA NA NA rs1531875 0.48 0.48 0.463 0.458866 0.6024 0.4633 0.5202 0.2405 0.5583 0.6 0.46 0.52 0.29 0.5413 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01915 NA NA 0.590179 0.280327 ID=COSM1423596;OCCURENCE=1(large_intestine) 0.536 NA 4.9327876 1159 14 81449363 81449363 G A intronic TSHR NA NA NA ncRNA_exonic ENSG00000258915 NA NA NA NA NA 14q31.1 NA NA Name=8 NA rs3783948 0.32 0.32 0.268 0.308906 0.4006 0.3968 0.3646 0.084 0.3885 0.4 0.38 0.38 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54908 NA NA NA NA NA 0.283 NA 4.9327333 1159 5 96116940 96116940 G A intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA Name=CEBPB,JunD,c-Jun,c-Fos,STAT3 Name=108 NA rs27042 0.33 0.33 0.357 0.399161 0.3429 0.2917 0.2464 0.5129 0.5225 0.33 0.25 0.27 0.47 0.3672 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326838 NA NA 0.357376 0.461994 NA 0.37 NA 4.932524 1159 7 100320221 100320221 G A intronic EPO NA NA NA intronic ENSG00000130427 NA NA NA NA NA 7q22.1 NA Name=USF-1 NA NA rs7789679 0.03 0.03 0.019 0.0307508 0.0676 0.002 0.0418 0.0038 0.0511 0.06 0.0035 0.02 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.978139 1.978139 NA NA NA NA 0.072 NA 4.9324 1159 20 44197329 44197329 C G intronic WFDC8 NA NA NA ncRNA_exonic ENSG00000230860 NA NA NA Score=677;Name=lod=751 NA 20q13.12 NA NA NA NA rs6104230 0.26 0.26 0.245 0.25599 0.4016 0.004 0.3401 0.3101 0.2331 0.4 0.0017 0.36 0.27 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56637 NA NA NA NA NA 0.384 NA 4.9317333 1159 3 38671944 38671944 G A intronic SCN5A NA NA NA intronic ENSG00000183873 NA NA NA Score=259;Name=lod=15 NA 3p22.2 NA NA NA NA rs7627488 0.05 0.05 0.044 0.0644968 0.0179 NA 0.0245 0.1944 0.0317 0.02 NA 0.02 0.16 0.0336 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.502145 3.502145 NA 0.017517 0.146989 NA 0.007 NA 4.930983 1159 22 41752747 41752747 G A exonic ZC3H7B NA synonymous SNV ZC3H7B:NM_017590:exon22:c.G2616A:p.T872T exonic ENSG00000100403 NA synonymous SNV ENSG00000100403:ENST00000351589:exon21:c.G2616A:p.T872T,ENSG00000100403:ENST00000352645:exon22:c.G2616A:p.T872T NA NA 22q13.2 NA NA NA NA rs12484074 0.2 0.2 0.143 0.220048 0.2396 0.0764 0.5159 0.0537 0.363 0.24 0.08 0.52 0.06 0.2631 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.347092 1.347092 NA 0.233023 0.082615 NA 0.246 NA 4.9309436 1159 10 50121322 50121322 G A intronic LRRC18,WDFY4 NA NA NA ncRNA_UTR3 ENSG00000165383 NA NA NA Score=289;Name=lod=20 NA 10q11.23 NA NA NA NA rs2663055 0.26 0.26 0.225 0.224042 0.4026 0.1776 0.3746 0.0234 0.2526 0.4 0.18 0.36 0.03 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366627 NA NA NA NA NA 0.145 NA 4.9307333 1159 19 15763691 15763691 G A exonic CYP4F3 NA synonymous SNV CYP4F3:NM_000896:exon9:c.G1044A:p.P348P,CYP4F3:NM_001199208:exon9:c.G1044A:p.P348P,CYP4F3:NM_001199209:exon9:c.G1044A:p.P348P exonic ENSG00000186529 NA synonymous SNV ENSG00000186529:ENST00000585846:exon8:c.G1044A:p.P348P,ENSG00000186529:ENST00000221307:exon9:c.G1044A:p.P348P,ENSG00000186529:ENST00000586182:exon9:c.G1044A:p.P348P,ENSG00000186529:ENST00000591058:exon9:c.G1044A:p.P348P NA NA 19p13.12 NA NA NA NA rs1805041 0.2 0.2 0.184 0.195887 0.2694 0.1558 0.1671 0.1067 0.3027 0.27 0.17 0.2 0.12 0.219 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752794 NA NA 0.247558 0.152519 NA 0.203 NA 4.9307086 1159 15 64970798 64970798 G A intronic ZNF609 NA NA NA intronic ENSG00000180357 NA NA NA NA NA 15q22.31 NA NA Name=8 NA rs16948172 0.1 0.1 0.112 0.1252 0.0696 0.001 0.0519 0.3306 0.0849 0.07 NA 0.06 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493237 NA NA NA NA NA 0.174 NA 4.9304 1159 8 146171437 146171437 A G exonic ZNF16 NA synonymous SNV ZNF16:NM_006958:exon2:c.T156C:p.D52D,ZNF16:NM_001029976:exon3:c.T156C:p.D52D exonic ENSG00000170631 NA synonymous SNV ENSG00000170631:ENST00000394909:exon2:c.T156C:p.D52D,ENSG00000170631:ENST00000527811:exon2:c.T156C:p.D52D,ENSG00000170631:ENST00000532351:exon2:c.T156C:p.D52D,ENSG00000170631:ENST00000276816:exon3:c.T156C:p.D52D NA NA 8q24.3 NA NA NA NA rs3735785 0.24 0.24 0.254 0.235224 0.2535 0.3284 0.2061 0.171 0.228 0.25 0.34 0.22 0.12 0.2402 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.391193 NA NA 0.242791 0.170449 NA 0.232 NA 4.9301756 1159 17 39723990 39723990 T A exonic KRT9 NA synonymous SNV KRT9:NM_000226:exon7:c.A1407T:p.G469G exonic ENSG00000171403 NA synonymous SNV ENSG00000171403:ENST00000246662:exon7:c.A1407T:p.G469G,ENSG00000171403:ENST00000588431:exon8:c.A708T:p.G236G Score=251;Name=lod=14 NA 17q21.2 NA NA NA NA rs3890472 0.64 0.64 0.627 0.647364 0.5616 0.9444 0.7147 0.385 0.7362 0.56 0.95 0.67 0.39 0.6241 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.670566 1.670566 NA 0.550814 0.39764 ID=COSM1179685;OCCURENCE=1(prostate) 0.601 NA 4.9301526 1159 1 205592698 205592698 C T intronic ELK4 NA NA NA intronic ENSG00000158711 NA NA NA Score=289;Name=lod=20 NA 1q32.1 NA NA NA NA rs34310773 0.15 0.15 0.119 0.196486 0.0706 0.373 0.1153 0.146 0.2699 0.07 0.32 0.09 0.12 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810803 NA NA NA NA NA 0.145 NA 4.9294 1159 12 95928113 95928113 C A intronic USP44 NA NA NA intronic ENSG00000136014 NA NA NA Score=410;Name=lod=62 NA 12q22 NA NA NA NA rs11108094 0.03 0.03 0.025 0.0299521 0.0706 0.001 0.0303 0.0023 0.0552 0.07 0.0017 0.02 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234165 NA NA NA NA NA 0.022 NA 4.9294 1159 11 4790857 4790857 A G exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.T291C:p.Y97Y exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.T291C:p.Y97Y,ENSG00000188069:ENST00000380383:exon1:c.T312C:p.Y104Y NA NA 11p15.4 NA NA NA NA rs11033797 0.23 0.23 0.231 0.215655 0.2704 NA 0.2017 0.4569 0.0654 0.25 NA 0.23 0.46 0.2135 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007038 NA NA 0.253374 0.44707 NA 0.29 NA 4.9293926 1159 11 4790671 4790671 C T exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.G477A:p.L159L exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.G477A:p.L159L,ENSG00000188069:ENST00000380383:exon1:c.G498A:p.L166L NA NA 11p15.4 NA NA NA NA rs11033795 0.23 0.23 0.237 0.215655 0.2704 NA 0.2017 0.4569 0.0654 0.25 NA 0.23 0.46 0.2137 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.785648 NA NA 0.25349 0.44707 NA 0.29 NA 4.9290766 1159 4 23830267 23830267 T C intronic PPARGC1A NA NA NA intronic ENSG00000109819 NA NA NA Score=746;Name=lod=1441 NA 4p15.2 NA NA NA NA rs35133598 0.01 0.01 0.004 0.00898562 0.0278 NA 0.0144 0.0023 0.0041 0.03 NA 0.01 0.002 0.0179 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.796044 1.796044 NA 0.025465 0.004085 NA 0.007 NA 4.928835 1159 11 62140069 62140069 G T intronic ASRGL1 NA NA NA ncRNA_exonic ENSG00000254454 NA NA NA Score=807;Name=lod=2528 NA 11q12.3 NA NA NA NA rs10792346 0.32 0.32 0.298 0.3127 0.4046 0.3938 0.3329 0.0756 0.4407 0.41 0.36 0.36 0.12 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132028 NA NA NA NA NA 0.297 NA 4.9287333 1159 2 161138652 161138652 G A intronic RBMS1 NA NA NA intronic ENSG00000153250 NA NA NA NA NA 2q24.2 NA NA Name=71 NA rs1870105 0.05 0.05 0.045 0.0628994 0.0716 0.0347 0.0389 0.0287 0.1462 0.07 0.03 0.05 0.04 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.617363 NA NA NA NA NA 0.051 NA 4.9284 1159 5 42892803 42892803 C T intergenic SEPP1,LOC648987 dist=80779;dist=122028 NA NA ncRNA_exonic ENSG00000249092 NA NA NA Score=657;Name=lod=624 NA 5p12 NA NA NA NA rs16874465 0.05 0.05 0.05 0.0519169 0.0716 0.003 0.0706 0.0847 0.0245 0.06 0.0017 0.09 0.07 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303688 NA NA NA NA NA 0.08 NA 4.9284 1159 11 117095283 117095283 C T intronic PCSK7 NA NA NA intronic ENSG00000160613 NA NA NA NA NA 11q23.3 NA Name=USF-1,STAT2,eGFP-GATA2,Pol2(b),TAL1_(SC-12984),Pol2,eGFP-JunD,p300_(F-4),GATA-1,TAF1,ETS1,GABP NA NA rs59781045 0.11 0.11 0.105 0.124201 0.0716 0.0377 0.0951 0.2405 0.1309 0.07 0.04 0.09 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256781 NA NA NA NA NA 0.123 NA 4.9284 1159 19 13339673 13339673 G A intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA Name=CTCF NA NA rs17846918 0.05 0.05 0.053 0.0646965 0.0716 0.0188 0.0375 0.0847 0.0971 0.07 0.02 0.04 0.08 NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154955 NA NA NA NA NA 0.065 NA 4.9284 1159 19 53507299 53507299 C G intergenic ZNF702P,ERVV-1 dist=10515;dist=10045 NA NA ncRNA_exonic ENSG00000268282 NA NA NA Score=648;Name=lod=571 NA 19q13.41 NA NA NA NA rs1650940 0.35 0.35 0.375 0.368011 0.0716 0.4385 0.219 0.7988 0.1237 0.08 0.42 0.2 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204272 NA NA NA NA ID=COSN165920;OCCURENCE=1(breast) 0.362 NA 4.9284 1159 19 53508214 53508214 C A intergenic ZNF702P,ERVV-1 dist=11430;dist=9130 NA NA ncRNA_exonic ENSG00000268282 NA NA NA Score=578;Name=lod=298 NA 19q13.41 NA NA NA NA rs1650937 0.33 0.33 0.347 0.343051 0.0716 0.4504 0.2075 0.7012 0.1237 0.08 0.42 0.19 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428936 NA NA NA NA ID=COSN165923;OCCURENCE=1(NS) 0.333 NA 4.9284 1159 4 68442968 68442968 A G exonic STAP1 NA synonymous SNV STAP1:NM_012108:exon4:c.A354G:p.T118T exonic ENSG00000035720 NA synonymous SNV ENSG00000035720:ENST00000265404:exon4:c.A354G:p.T118T,ENSG00000035720:ENST00000396225:exon4:c.A354G:p.T118T Score=533;Name=lod=195 NA 4q13.2 NA NA NA NA rs11556614 0.43 0.43 0.415 0.398163 0.5835 0.1706 0.3977 0.4584 0.3609 0.59 0.17 0.45 0.47 0.518 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450779 NA NA 0.637093 0.483659 NA 0.471 NA 4.9280736 1159 14 58752112 58752112 G A ncRNA_intronic FLJ31306 NA NA NA ncRNA_exonic ENSG00000180189 NA NA NA Score=684;Name=lod=801 NA 14q23.1 NA NA NA NA rs8009527 0.65 0.65 0.655 0.680511 0.7386 0.4077 0.6931 0.8321 0.6881 0.72 0.38 0.71 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.139406 NA NA NA NA NA 0.688 NA 4.9280666 1159 3 9985656 9985656 C T exonic CRELD1 NA synonymous SNV CRELD1:NM_001031717:exon11:c.C1119T:p.H373H exonic ENSG00000163703 NA synonymous SNV ENSG00000163703:ENST00000326434:exon11:c.C1119T:p.H373H NA NA 3p25.3 NA NA NA NA rs3774207 0.37 0.37 0.383 0.379992 0.2107 0.1558 0.3256 0.8132 0.2382 0.22 0.21 0.34 0.81 0.2785 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.57536 NA NA 0.249419 0.710168 ID=COSM149327;OCCURENCE=1(stomach) 0.565 NA 4.9280476 1159 2 225298481 225298481 C A intergenic FAM124B,CUL3 dist=31770;dist=36386 NA NA intergenic ENSG00000124019,ENSG00000036257 dist=31679;dist=36386 NA NA NA NA 2q36.2 NA Name=POU5F1_(SC-9081),Max,TBP,p300,SP1,NANOG_(SC-33759) Name=8 NA rs10804321 0.43 0.43 0.08 0.473043 0.4056 0.37 0.3847 0.649 0.4734 0.38 0.37 0.39 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.95471 1.95471 NA NA NA NA NA NA 4.9277334 1159 2 225298482 225298482 T C intergenic FAM124B,CUL3 dist=31771;dist=36385 NA NA intergenic ENSG00000124019,ENSG00000036257 dist=31680;dist=36385 NA NA NA NA 2q36.2 NA Name=NANOG_(SC-33759),SP1,TBP,p300,POU5F1_(SC-9081),Max Name=8 NA rs10804322 0.44 0.44 0.08 0.473043 0.4056 0.37 0.3847 0.649 0.4734 0.38 0.38 0.4 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.65253 1.65253 NA NA NA NA NA NA 4.9277334 1159 16 68720470 68720470 A G intronic CDH3 NA NA NA ncRNA_exonic ENSG00000261395 NA NA NA Score=615;Name=lod=421 NA 16q22.1 NA NA NA NA rs3791 0.36 0.36 0.315 0.310304 0.4056 0.5139 0.3991 0.0242 0.3262 0.42 0.53 0.39 0.03 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.698253 1.698253 NA NA NA NA 0.42 NA 4.9277333 1159 3 33426951 33426951 T C intronic FBXL2 NA NA NA intronic ENSG00000153558 NA NA NA NA NA 3p22.3 NA Name=Pol2-4H8,PU.1,GABP,ELF1_(SC-631) NA NA rs115066682 0.01 0.01 0.009 0.0165735 0.0268 NA 0.0303 NA 0.0358 0.02 NA 0.04 NA 0.0218 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147819 NA NA 0.023721 0.004993 NA 0.08 NA 4.927679 1159 2 69267328 69267328 A G intronic ANTXR1 NA NA NA intronic ENSG00000169604 NA NA NA NA NA 2p13.3 NA NA Name=7 NA rs4527236 0.03 0.03 0.033 0.0233626 0.0726 NA 0.0375 0.0061 0.0102 0.07 NA 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31189 NA NA NA NA NA 0.022 NA 4.9274 1159 5 42917536 42917536 G A intergenic SEPP1,LOC648987 dist=105512;dist=97295 NA NA ncRNA_exonic ENSG00000249516 NA NA NA Score=634;Name=lod=501 NA 5p12 NA NA NA NA rs2548363 0.06 0.06 0.058 0.0632987 0.0726 0.003 0.0749 0.1241 0.0256 0.06 0.0017 0.09 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013733 NA NA NA NA NA 0.087 NA 4.9274 1159 6 109649077 109649077 T G intergenic CCDC162P,CD164 dist=19654;dist=38640 NA NA ncRNA_exonic ENSG00000218632 NA NA NA Score=478;Name=lod=117 NA 6q21 NA NA NA NA rs2066278 0.11 0.11 0.097 0.100639 0.0726 0.1607 0.1239 0.0598 0.1063 0.08 0.18 0.09 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163927 NA NA NA NA NA 0.072 NA 4.9274 1159 14 59261651 59261651 G A intergenic DACT1,DAAM1 dist=146613;dist=393730 NA NA ncRNA_exonic ENSG00000213598 NA NA NA Score=726;Name=lod=1185 NA 14q23.1 NA NA NA NA rs10483703 0.16 0.16 0.136 0.133986 0.0726 0.5109 0.0317 NA 0.0624 0.07 0.5 0.03 NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.405981 2.405981 NA NA NA NA 0.116 NA 4.9274 1159 19 23406165 23406165 T C downstream ZNF724P NA NA NA exonic ENSG00000196081 NA synonymous SNV ENSG00000196081:ENST00000418100:exon4:c.A882G:p.S294S NA NA 19p12 NA Name=KAP1,SETDB1,ZNF274 Name=8 NA rs2885604 0.86 0.86 0.849 0.871206 0.8648 0.876 0.8646 0.8177 0.9499 0.87 0.88 0.86 0.81 0.8745 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.108847 NA NA NA NA NA 0.855 NA 4.9273666 1159 6 36842427 36842427 C G intronic PPIL1 NA NA NA intronic ENSG00000137168,ENSG00000198663 NA NA NA NA NA 6p21.2 NA Name=ZBTB7A_(SC-34508),Max,c-Myc,AP-2gamma,GTF2F1_(RAP-74),CTCF,EBF1_(C-8),USF-1,E2F4,ELK4,GABP,HMGN3,TAF1,GATA-1,Pol2(b),CTCFL_(SC-98982),HA-E2F1,YY1_(C-20),Sin3Ak-20,E2F6,Pol2-4H8,Pol2,Mxi1_(bHLH),TCF4,YY1 Name=148 NA rs2303993 0.54 0.54 0.482 0.509585 0.5358 0.6756 0.5692 0.3638 0.4663 0.53 0.68 0.56 0.35 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660096 NA NA 0.53713 0.41061 NA 0.594 NA 4.92707 1159 17 5126689 5126689 G A exonic SCIMP NA synonymous SNV SCIMP:NM_001271842:exon2:c.C84T:p.I28I,SCIMP:NM_207103:exon2:c.C84T:p.I28I exonic ENSG00000161929 NA synonymous SNV ENSG00000161929:ENST00000399600:exon2:c.C84T:p.I28I,ENSG00000161929:ENST00000571800:exon2:c.C84T:p.I28I,ENSG00000161929:ENST00000574081:exon2:c.C84T:p.I28I,ENSG00000161929:ENST00000574297:exon2:c.C84T:p.I28I NA NA 17p13.2 NA Name=Pol2 NA NA rs2585271 0.39 0.39 0.344 0.335463 0.6014 0.1984 0.5937 0.1831 0.226 0.59 0.2 0.6 0.16 0.503 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662394 NA NA 0.635456 0.253731 NA 0.486 NA 4.9268106 1159 2 160546468 160546468 G A intergenic BAZ2B,MARCH7 dist=73409;dist=22542 NA NA ncRNA_exonic ENSG00000230783 NA NA NA Score=776;Name=lod=1893 NA 2q24.2 NA NA NA NA rs13018444 0.05 0.05 0.03 0.0465256 0.0736 0.004 0.049 0.0318 0.0808 0.07 0.0017 0.07 0.04 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354913 NA NA NA NA NA 0.022 NA 4.9264 1159 14 100759046 100759046 C A exonic SLC25A29 NA synonymous SNV SLC25A29:NM_001039355:exon4:c.G486T:p.T162T exonic ENSG00000197119 NA synonymous SNV ENSG00000197119:ENST00000554912:exon2:c.G288T:p.T96T,ENSG00000197119:ENST00000539621:exon3:c.G288T:p.T96T,ENSG00000197119:ENST00000554291:exon3:c.G288T:p.T96T,ENSG00000197119:ENST00000556505:exon3:c.G288T:p.T96T,ENSG00000197119:ENST00000359232:exon4:c.G486T:p.T162T,ENSG00000197119:ENST00000555927:exon4:c.G288T:p.T96T Score=535;Name=lod=199 NA 14q32.2 NA NA NA NA rs3825555 0.57 0.57 0.563 0.530351 0.5676 0.7083 0.6081 0.3865 0.4479 0.57 0.72 0.61 0.39 0.6059 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961081 NA NA 0.56707 0.435763 ID=COSM432664;OCCURENCE=1(breast) 0.471 NA 4.9260966 1159 8 92083424 92083424 A G exonic OTUD6B NA synonymous SNV OTUD6B:NM_016023:exon2:c.A231G:p.Q77Q exonic ENSG00000155100 NA synonymous SNV ENSG00000155100:ENST00000285420:exon2:c.A231G:p.Q77Q,ENSG00000155100:ENST00000522894:exon2:c.A201G:p.Q67Q Score=592;Name=lod=340 NA 8q21.3 NA NA NA NA rs11557571 0.48 0.48 0.455 0.486222 0.5974 0.5833 0.4049 0.2262 0.681 0.62 0.56 0.43 0.21 0.5453 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538559 NA NA 0.59814 0.295733 NA 0.551 NA 4.9258266 1159 3 98502017 98502017 G A intronic ST3GAL6 NA NA NA ncRNA_exonic ENSG00000249274 NA NA NA Score=486;Name=lod=126 NA 3q12.1 NA NA NA NA rs12107050 0.34 0.34 0.361 0.355831 0.4076 0.2232 0.3501 0.4418 0.3272 0.42 0.19 0.34 0.39 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049148 NA NA NA NA NA 0.348 NA 4.9257333 1159 20 62273435 62273435 G A intronic STMN3 NA NA NA intronic ENSG00000197457 NA NA NA NA NA 20q13.33 NA Name=YY1_(C-20),SMC3_(ab9263),SP1,Pol2,TAF1,CTCF,ELF1_(SC-631),Pol2-4H8,Egr-1,YY1,IRF1,TBP,Nrf1,c-Myc Name=137 NA rs186744824 0.36 0.36 NA 0.346446 0.501 0.0992 0.4294 0.4228 0.2802 0.49 0.1 0.44 0.42 0.5733 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174689 NA NA NA NA NA NA NA 4.9257 1159 4 113377758 113377758 G A intergenic ALPK1,NEUROG2 dist=13994;dist=56914 NA NA ncRNA_exonic ENSG00000248697 NA NA NA Score=682;Name=lod=789 NA 4q25 NA NA NA NA rs2074384 0.1 0.1 0.075 0.116014 0.0746 0.2778 0.062 0.0053 0.18 0.06 0.25 0.07 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343202 1.343202 NA NA NA NA 0.087 NA 4.9254 1159 6 31249267 31249267 G C intergenic HLA-C,HLA-B dist=9354;dist=72382 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs35840219 0.09 0.09 0.069 0.0662939 0.0746 0.121 0.0994 0.0378 0.0164 0.08 0.13 0.09 0.04 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275444 NA NA NA NA NA 0.101 NA 4.9254 1159 16 2110608 2110608 G A intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs12927333 0.04 0.04 0.033 0.0345447 0.0746 NA 0.0461 0.0023 0.0644 0.08 NA 0.07 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200984 NA NA NA NA NA 0.022 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome;CLNREVSTAT=not;CLNACC=RCV000043173.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1220:C0041341:191100:7199000 4.9254 1159 20 50346644 50346644 G C intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA Name=Egr-1 NA NA rs35031713 0.08 0.08 0.081 0.0760783 0.0746 NA 0.0504 0.1687 0.0491 0.08 NA 0.07 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540597 NA NA NA NA NA 0.051 NA 4.9254 1160 9 93636875 93636875 A G intronic SYK NA NA NA intronic ENSG00000165025 NA NA NA NA NA 9q22.2 NA Name=CTCF NA NA rs11787670 0.03 0.03 0.025 0.0267572 0.0755 NA 0.0461 0.0053 0.0194 0.06 NA 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724892 NA NA NA NA NA 0.014 NA 4.9245 1160 14 66347118 66347118 G A intergenic FUT8,LINC00238 dist=136279;dist=605991 NA NA ncRNA_exonic ENSG00000258629 NA NA NA Score=470;Name=lod=108 NA 14q23.3 NA NA NA NA rs58101060 0.11 0.11 0.098 0.13778 0.0755 0.0218 0.1902 0.2579 0.1217 0.07 0.02 0.17 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568632 NA NA NA NA NA 0.101 NA 4.9245 1160 16 81204751 81204751 G T intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA Name=BHLHE40,Ini1 NA NA rs79736308 0.09 0.09 0.066 0.0992412 0.0755 0.0268 0.2363 0.084 0.1217 0.08 0.02 0.2 0.09 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458968 NA NA NA NA NA 0.058 NA 4.9245 1160 20 48600268 48600268 C T intronic SNAI1 NA NA NA intronic ENSG00000124216 NA NA NA NA NA 20q13.13 NA Name=Pol2 NA NA rs4141977 0.06 0.06 0.055 0.0449281 0.0755 0.0288 0.0519 0.0408 0.0307 0.09 0.04 0.07 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41607 NA NA NA NA NA 0.022 NA 4.9245 1160 11 4790308 4790308 A G exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.T840C:p.N280N exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.T840C:p.N280N,ENSG00000188069:ENST00000380383:exon1:c.T861C:p.N287N NA NA 11p15.4 NA NA NA NA rs1030725 0.23 0.23 0.236 0.215655 0.2704 NA 0.2017 0.4569 0.0654 0.25 NA 0.23 0.46 0.2185 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120512 NA NA 0.253374 0.44707 NA 0.29 NA 4.9243926 1160 1 21573722 21573722 G A exonic ECE1 NA synonymous SNV ECE1:NM_001113347:exon7:c.C1119T:p.T373T,ECE1:NM_001113349:exon8:c.C1146T:p.T382T,ECE1:NM_001113348:exon9:c.C1107T:p.T369T,ECE1:NM_001397:exon9:c.C1155T:p.T385T exonic ENSG00000117298 NA synonymous SNV ENSG00000117298:ENST00000357071:exon7:c.C1119T:p.T373T,ENSG00000117298:ENST00000264205:exon8:c.C1146T:p.T382T,ENSG00000117298:ENST00000374893:exon9:c.C1155T:p.T385T,ENSG00000117298:ENST00000415912:exon9:c.C1107T:p.T369T,ENSG00000117298:ENST00000436918:exon9:c.C1155T:p.T385T NA NA 1p36.12 NA NA NA NA rs2229450 0.16 0.16 0.145 0.146765 0.2535 0.128 0.2709 0.0144 0.1472 0.25 0.12 0.25 0.02 0.2204 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119291 NA NA 0.268488 0.057422 NA 0.123 NA 4.9242786 1160 1 119988422 119988422 C T intergenic HSD3B2,HSD3B1 dist=22760;dist=61404 NA NA ncRNA_exonic ENSG00000203858 NA NA NA Score=278;Name=lod=18 NA 1p12 NA NA NA NA rs11805965 0.14 0.14 0.138 0.160343 0.0765 0.0635 0.1513 0.3169 0.1411 0.07 0.05 0.16 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110358 NA NA NA NA NA 0.203 NA 4.9235 1160 2 233310094 233310094 C T intergenic ALPPL2,ALPI dist=34670;dist=10739 NA NA ncRNA_exonic ENSG00000223788 NA NA NA Score=446;Name=lod=87 NA 2q37.1 NA NA NA NA rs2853407 0.12 0.12 0.098 0.100439 0.0765 0.2014 0.0634 0.0825 0.0716 0.08 0.2 0.07 0.1 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239075 NA NA NA NA NA 0.094 NA 4.9235 1160 14 22032076 22032076 C T intergenic SALL2,OR10G3 dist=26739;dist=5858 NA NA ncRNA_exonic ENSG00000256737 NA NA NA Score=841;Name=lod=3499 NA 14q11.2 NA NA NA NA rs11628102 0.12 0.12 0.119 0.119808 0.0765 0.12 0.0793 0.1906 0.0971 0.08 0.12 0.08 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558121 NA NA NA NA NA 0.065 NA 4.9235 1160 19 11891003 11891003 G A exonic ZNF441 NA nonsynonymous SNV ZNF441:NM_152355:exon4:c.G364A:p.V122I exonic ENSG00000197044 NA nonsynonymous SNV ENSG00000197044:ENST00000357901:exon4:c.G364A:p.V122I,ENSG00000197044:ENST00000454339:exon5:c.G163A:p.V55I NA NA 19p13.2 NA NA NA NA rs799193 0.88 0.88 0.898 0.89377 0.7903 0.9514 0.8588 0.969 0.864 0.79 0.95 0.84 0.96 0.8304 0.96 0.08 T 0.0 B 0.0 B . . 1.000 P -0.235 N 3.52 T -1.084 T 0.000 T 0.011 -0.653 1.13 0.166 -0.474 -0.300 4.270 -0.652644 NA 0.75 0.789651 0.94621 NA 0.833 NA 4.9229824 1160 11 4790758 4790758 G A exonic OR51F1 NA synonymous SNV OR51F1:NM_001004752:exon1:c.C390T:p.D130D exonic ENSG00000188069 NA synonymous SNV ENSG00000188069:ENST00000343430:exon1:c.C390T:p.D130D,ENSG00000188069:ENST00000380383:exon1:c.C411T:p.D137D NA NA 11p15.4 NA NA NA NA rs11033796 0.24 0.24 0.257 0.233027 0.2714 NA 0.2104 0.5174 0.0654 0.25 0.0017 0.23 0.53 0.2185 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050917 NA NA 0.253955 0.488642 NA 0.304 NA 4.9228116 1160 2 107314737 107314737 T C intergenic RGPD3,ST6GAL2 dist=229936;dist=103319 NA NA ncRNA_exonic ENSG00000214199 NA NA NA Score=869;Name=lod=4546 NA 2q12.2 NA NA NA NA rs10176126 0.08 0.08 0.048 0.0734824 0.0775 0.0377 0.0821 0.0908 0.0767 0.08 0.03 0.09 0.11 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392759 NA NA NA NA NA 0.094 NA 4.9225 1160 2 107314806 107314806 A G intergenic RGPD3,ST6GAL2 dist=230005;dist=103250 NA NA ncRNA_exonic ENSG00000214199 NA NA NA Score=869;Name=lod=4546 NA 2q12.2 NA NA NA NA rs142445925 0.08 0.08 0.052 0.0730831 0.0775 0.0377 0.0821 0.0893 0.0767 0.08 0.03 0.09 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.985182 NA NA NA NA NA 0.072 NA 4.9225 1160 2 112751737 112751737 G A intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA Name=PU.1 NA NA rs77739234 0.03 0.03 0.025 0.0227636 0.0775 NA 0.036 0.003 0.0072 0.07 NA 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59063 NA NA NA NA NA 0.029 NA 4.9225 1160 3 44751372 44751372 C T intergenic ZNF35,ZNF502 dist=49089;dist=2763 NA NA ncRNA_exonic ENSG00000235805 NA NA NA Score=777;Name=lod=1920 NA 3p21.31 NA NA NA NA rs116419768 0.04 0.04 0.032 0.0221645 0.0775 NA 0.0331 0.003 0.0061 0.08 NA 0.04 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556554 NA NA NA NA NA 0.043 NA 4.9225 1160 3 44751661 44751661 C T intergenic ZNF35,ZNF502 dist=49378;dist=2474 NA NA ncRNA_exonic ENSG00000235805 NA NA NA Score=722;Name=lod=1149 NA 3p21.31 NA NA NA NA rs143370041 0.04 0.04 0.027 0.0221645 0.0775 NA 0.0331 0.003 0.0061 0.08 NA 0.04 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495305 NA NA NA NA NA 0.043 NA 4.9225 1160 4 117520126 117520126 C G intergenic MIR1973,TRAM1L1 dist=299202;dist=484584 NA NA ncRNA_exonic ENSG00000213493 NA NA NA Score=711;Name=lod=1031 NA 4q26 NA NA NA NA rs17589419 0.04 0.04 0.037 0.0263578 0.0775 NA 0.0447 0.0015 0.0215 0.08 NA 0.04 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27694 NA NA NA NA NA 0.029 NA 4.9225 1160 5 157413836 157413836 G C intergenic CLINT1,EBF1 dist=127653;dist=709087 NA NA ncRNA_exonic ENSG00000213414 NA NA NA Score=449;Name=lod=89 NA 5q33.3 NA NA NA NA rs72816535 0.1 0.1 0.103 0.086861 0.0775 NA 0.0562 0.2337 0.0092 0.09 NA 0.06 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119759 NA NA NA NA NA 0.087 NA 4.9225 1160 5 157414091 157414091 C T intergenic CLINT1,EBF1 dist=127908;dist=708832 NA NA ncRNA_exonic ENSG00000213414 NA NA NA Score=639;Name=lod=529 NA 5q33.3 NA NA NA NA rs11953808 0.11 0.11 0.121 0.0986422 0.0775 NA 0.0591 0.2769 0.0092 0.09 NA 0.06 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778051 NA NA NA NA NA 0.123 NA 4.9225 1160 18 33854102 33854102 A C intergenic MOCOS,FHOD3 dist=5417;dist=23600 NA NA ncRNA_exonic ENSG00000267404 NA NA NA Score=778;Name=lod=1936 NA 18q12.2 NA NA NA NA rs12457919 0.08 0.08 0.059 0.0728834 0.0775 0.0714 0.1772 0.0378 0.0429 0.07 0.07 0.17 0.03 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839298 NA NA NA NA NA 0.051 NA 4.9225 1160 5 101631790 101631790 T G exonic SLCO4C1 NA synonymous SNV SLCO4C1:NM_180991:exon1:c.A177C:p.P59P exonic ENSG00000173930 NA synonymous SNV ENSG00000173930:ENST00000310954:exon1:c.A177C:p.P59P NA NA 5q21.1 NA NA NA NA rs10479190 0.17 0.17 0.122 0.141973 0.2833 0.1558 0.1398 0.0121 0.1595 0.28 0.15 0.16 0.02 0.2181 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17656 NA NA 0.243721 0.047435 NA 0.225 NA 4.9215456 1160 7 94325030 94325030 T G intergenic PEG10,PPP1R9A dist=26024;dist=211919 NA NA ncRNA_exonic ENSG00000232385 NA NA NA Score=804;Name=lod=2468 NA 7q21.3 NA NA NA NA rs62466571 0.12 0.12 0.116 0.149561 0.0785 0.1855 0.0461 0.2602 0.1094 0.08 0.14 0.05 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.786032 2.786032 NA NA NA NA 0.138 NA 4.9215 1160 17 27445576 27445576 C T intronic MYO18A NA NA NA intronic ENSG00000196535 NA NA NA NA NA 17q11.2 NA NA Name=2 NA rs55776954 0.03 0.03 0.02 0.0241613 0.0785 NA 0.0476 0.003 0.0051 0.07 NA 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24474 NA NA NA NA NA 0.007 NA 4.9215 1160 17 76128360 76128360 G A intronic TMC6,TMC8 NA NA NA intronic ENSG00000141524,ENSG00000167895 NA NA NA NA NA 17q25.3 NA Name=CTCF_(C-20),Pol2,CTCF NA NA rs2221636 0.1 0.1 0.077 0.0884585 0.0785 0.0883 0.0648 0.1346 0.0532 0.07 0.1 0.08 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330463 NA NA NA NA NA 0.014 NA 4.9215 1160 20 23565975 23565975 C T intergenic CST9L,CST9 dist=16589;dist=17072 NA NA ncRNA_intronic ENSG00000204658 NA NA NA NA NA 20p11.21 NA NA Name=8 NA rs77114334 0.04 0.04 0.036 0.0247604 0.0785 NA 0.0519 0.0015 0.0072 0.08 NA 0.06 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618643 NA NA NA NA NA 0.007 NA 4.9215 1160 5 55455600 55455600 C T intronic ANKRD55 NA NA NA intronic ENSG00000164512 NA NA NA NA NA 5q11.2 NA NA Name=35 NA rs115250350 0.02 0.02 0.016 0.0129792 0.0408 NA 0.0173 0.0008 0.0112 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468101 NA NA 0.037712 0.007225 NA NA NA 4.921488 1160 1 211836789 211836789 T C exonic NEK2 NA synonymous SNV NEK2:NM_002497:exon8:c.A1317G:p.R439R exonic ENSG00000117650 NA synonymous SNV ENSG00000117650:ENST00000366999:exon8:c.A1317G:p.R439R,ENSG00000117650:ENST00000540251:exon9:c.A1188G:p.R396R NA NA 1q32.3 NA NA NA NA rs12031285 0.28 0.28 0.25 0.309505 0.2286 0.2629 0.3501 0.3782 0.319 0.23 0.27 0.32 0.34 0.2871 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370169 1.370169 NA 0.229767 0.360872 NA 0.275 NA 4.9211996 1160 4 25419283 25419283 T C exonic ANAPC4 NA synonymous SNV ANAPC4:NM_013367:exon28:c.T2121C:p.F707F exonic ENSG00000053900 NA synonymous SNV ENSG00000053900:ENST00000315368:exon28:c.T2121C:p.F707F,ENSG00000053900:ENST00000510092:exon28:c.T2124C:p.F708F Score=580;Name=lod=304 NA 4p15.2 NA NA NA NA rs9174 0.51 0.51 0.495 0.502396 0.5974 0.3075 0.5476 0.6172 0.4182 0.59 0.31 0.55 0.59 0.554 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789155 NA NA 0.594186 0.617794 ID=COSM149658;OCCURENCE=1(stomach) 0.514 NA 4.9210806 1160 1 173516903 173516903 A G exonic SLC9C2 NA synonymous SNV SLC9C2:NM_178527:exon13:c.T1482C:p.N494N exonic ENSG00000162753 NA synonymous SNV ENSG00000162753:ENST00000536496:exon12:c.T1176C:p.N392N,ENSG00000162753:ENST00000367714:exon13:c.T1482C:p.N494N NA NA 1q25.1 NA NA NA NA rs10494490 0.45 0.45 0.442 0.485224 0.2147 0.6448 0.3732 0.671 0.4274 0.22 0.62 0.36 0.69 0.322 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379096 NA NA 0.208953 0.591693 NA 0.435 NA 4.9210136 1160 7 11521542 11521542 T C exonic THSD7A NA synonymous SNV THSD7A:NM_015204:exon7:c.A1890G:p.P630P exonic ENSG00000005108 NA synonymous SNV ENSG00000005108:ENST00000423059:exon7:c.A1890G:p.P630P NA NA 7p21.3 NA NA NA NA rs3735502 0.2 0.2 0.211 0.184904 0.2505 0.1786 0.183 0.1188 0.2147 0.24 0.17 0.19 0.19 0.233 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.048013 NA NA 0.262237 0.114469 NA 0.275 NA 4.9209296 1160 5 80042275 80042275 T G intronic MSH3 NA NA NA ncRNA_exonic ENSG00000248967 NA NA NA Score=719;Name=lod=1110 NA 5q14.1 NA NA NA NA rs863221 0.34 0.34 0.317 0.332069 0.4125 0.3661 0.3559 0.1589 0.4315 0.42 0.36 0.35 0.18 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675941 NA NA NA NA NA 0.428 NA 4.9208333 1160 5 177636199 177636199 C T intronic AGXT2L2,HNRNPAB NA NA NA intronic ENSG00000175309,ENSG00000197451 NA NA NA NA NA 5q35.3 NA NA Name=3 NA rs1059367 0.1 0.1 0.078 0.0834665 0.0795 0.1746 0.1297 0.0061 0.0654 0.08 0.19 0.1 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074349 NA NA NA NA NA 0.007 NA 4.9205 1160 7 108634409 108634409 G C intergenic C7orf66,EIF3IP1 dist=109772;dist=964875 NA NA ncRNA_exonic ENSG00000227968 NA NA NA Score=692;Name=lod=862 NA 7q31.1 NA NA NA NA rs13233585 0.04 0.04 0.034 0.0231629 0.0795 NA 0.0389 0.003 0.0051 0.1 NA 0.05 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070532 NA NA NA NA NA 0.08 NA 4.9205 1160 11 10506297 10506297 C T intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs11042843 0.04 0.04 0.03 0.023762 0.0795 NA 0.0346 0.003 0.0112 0.08 NA 0.04 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634129 NA NA NA NA NA 0.014 NA 4.9205 1160 18 14392976 14392976 C T intergenic CYP4F35P,CXADRP3 dist=50453;dist=84978 NA NA ncRNA_exonic ENSG00000265296 NA NA NA Score=554;Name=lod=239 NA 18p11.21 NA NA NA NA rs141934628 0.04 0.04 0.029 0.0405351 0.0795 0.006 0.0447 0.0091 0.0757 0.07 0.0017 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04593 NA NA NA NA NA NA NA 4.9205 1160 22 50152008 50152008 C T intergenic C22orf34,BRD1 dist=100818;dist=14929 NA NA ncRNA_exonic ENSG00000214727 NA NA NA Score=772;Name=lod=1826 NA 22q13.33 NA NA NA NA rs139835 0.07 0.07 0.055 0.057508 0.0795 0.0595 0.0663 0.0045 0.0982 0.09 0.07 0.08 0.0041 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138751 NA NA NA NA NA 0.043 NA 4.9205 1160 22 50152229 50152229 T C intergenic C22orf34,BRD1 dist=101039;dist=14708 NA NA ncRNA_exonic ENSG00000214727 NA NA NA Score=772;Name=lod=1826 NA 22q13.33 NA NA NA NA rs139836 0.07 0.07 0.051 0.0579073 0.0795 0.0595 0.0663 0.0045 0.1002 0.09 0.07 0.08 0.0041 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061745 NA NA NA NA NA 0.043 NA 4.9205 1160 17 66526316 66526316 A T intronic PRKAR1A NA NA NA UTR3 ENSG00000108946 ENST00000592800:c.*97A>T NA NA NA NA 17q24.2 NA NA NA NA rs2302233 0.19 0.19 0.186 0.179712 0.2465 0.1637 0.1484 0.1377 0.2065 0.25 0.18 0.14 0.14 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614051 NA NA NA NA NA 0.116 CLINSIG=non-pathogenic;CLNDBN=Carney_complex\x2c_type_1;CLNREVSTAT=single;CLNACC=RCV000033948.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1286:C2607929:160980:ORPHA1359 4.9201667 1160 6 24599246 24599246 C A intronic KIAA0319 NA NA NA ncRNA_exonic ENSG00000218186 NA NA NA Score=666;Name=lod=676 NA 6p22.3 NA NA NA NA rs13218075 0.23 0.23 0.202 0.202875 0.4135 0.1171 0.2161 0.0318 0.2965 0.44 0.13 0.21 0.04 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24153 NA NA NA NA NA 0.319 NA 4.9198333 1160 15 89430506 89430506 C T exonic HAPLN3 NA synonymous SNV HAPLN3:NM_178232:exon2:c.G24A:p.P8P exonic ENSG00000140511 NA synonymous SNV ENSG00000140511:ENST00000359595:exon2:c.G24A:p.P8P,ENSG00000140511:ENST00000558770:exon2:c.G24A:p.P8P,ENSG00000140511:ENST00000562281:exon2:c.G24A:p.P8P,ENSG00000140511:ENST00000562889:exon3:c.G210A:p.P70P NA NA 15q26.1 NA NA NA NA rs3743395 0.22 0.22 0.213 0.203674 0.2505 0.2222 0.2248 0.1755 0.1595 0.25 0.22 0.23 0.17 0.2329 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041129 NA NA 0.263666 0.185227 NA 0.275 NA 4.9196006 1160 4 43901148 43901148 A G intergenic GRXCR1,KCTD8 dist=868473;dist=274772 NA NA ncRNA_exonic ENSG00000124399 NA NA NA Score=321;Name=lod=27 NA 4p13 NA NA NA NA rs10022054 0.23 0.23 0.207 0.252995 0.0805 0.1944 0.2478 0.4743 0.1953 0.08 0.2 0.25 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215465 NA 0.91 NA NA NA 0.196 NA 4.9195 1160 7 130528405 130528405 T G intergenic KLF14,MIR29A dist=109517;dist=33101 NA NA ncRNA_exonic ENSG00000232716 NA NA NA Score=563;Name=lod=258 NA 7q32.3 NA NA NA NA rs77239427 0.04 0.04 0.035 0.0335463 0.0805 0.0218 0.0476 0.0038 0.0276 0.08 0.02 0.06 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430096 NA NA NA NA NA 0.036 NA 4.9195 1160 19 57802806 57802806 C T exonic ZNF460 NA synonymous SNV ZNF460:NM_006635:exon3:c.C897T:p.N299N exonic ENSG00000197714 NA synonymous SNV ENSG00000197714:ENST00000360338:exon3:c.C897T:p.N299N,ENSG00000197714:ENST00000537645:exon3:c.C774T:p.N258N NA NA 19q13.43 NA NA NA NA rs2041109 0.2 0.2 0.162 0.184305 0.2515 0.1657 0.3084 0.0908 0.1728 0.25 0.16 0.28 0.09 0.2404 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635845 NA NA 0.255698 0.11212 NA 0.152 NA 4.9190686 1160 17 48752866 48752866 C T intronic ABCC3 NA NA NA intronic ENSG00000108846 NA NA NA NA NA 17q21.33 NA Name=GATA2_(CG2-96) Name=3 NA rs2072365 0.33 0.33 0.313 0.32488 0.3459 0.3611 0.4207 0.1157 0.4806 0.35 0.39 0.4 0.16 0.3698 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842367 NA NA 0.365581 0.167953 NA 0.29 NA 4.918719 1160 7 76990178 76990178 C G exonic GSAP NA synonymous SNV GSAP:NM_017439:exon14:c.G990C:p.G330G exonic ENSG00000186088 NA synonymous SNV ENSG00000186088:ENST00000257626:exon14:c.G990C:p.G330G NA NA 7q11.23 NA NA NA NA rs4727366 0.28 0.28 0.288 0.301917 0.2326 0.0873 0.219 0.5461 0.3231 0.24 0.09 0.25 0.58 0.2626 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039754 NA NA 0.252791 0.495915 ID=COSM1452148;OCCURENCE=1(large_intestine) 0.283 NA 4.9186756 1160 10 30692387 30692387 C G intergenic MTPAP,MAP3K8 dist=54120;dist=30563 NA NA ncRNA_exonic ENSG00000224473 NA NA NA Score=582;Name=lod=309 NA 10p11.23 NA NA NA NA rs11008032 0.1 0.1 0.078 0.096845 0.0815 0.1746 0.1326 0.0212 0.1094 0.08 0.19 0.13 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.324859 NA NA NA NA NA 0.087 NA 4.9185 1160 18 43524145 43524145 C A intronic EPG5 NA NA NA intronic ENSG00000152223 NA NA NA NA NA 18q21.1 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs75005183 0.08 0.08 0.089 0.0988419 0.0815 0.0268 0.0692 0.1952 0.0818 0.08 0.02 0.06 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275989 NA NA NA NA NA 0.087 NA 4.9185 1160 19 57802824 57802824 G A exonic ZNF460 NA synonymous SNV ZNF460:NM_006635:exon3:c.G915A:p.K305K exonic ENSG00000197714 NA synonymous SNV ENSG00000197714:ENST00000360338:exon3:c.G915A:p.K305K,ENSG00000197714:ENST00000537645:exon3:c.G792A:p.K264K NA NA 19q13.43 NA NA NA NA rs2041110 0.2 0.2 0.161 0.186302 0.2515 0.1657 0.3084 0.0983 0.1728 0.25 0.16 0.28 0.09 0.2413 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55085 NA NA 0.255465 0.121198 NA 0.152 NA 4.9184016 1160 9 29825106 29825106 C T intergenic LINGO2,LOC401497 dist=612108;dist=563827 NA NA ncRNA_exonic ENSG00000230097 NA NA NA Score=563;Name=lod=260 NA 9p21.1 NA NA NA NA rs10813176 0.13 0.13 0.166 0.148762 0.0825 0.0427 0.0879 0.3669 0.0746 0.08 0.06 0.07 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745365 NA NA NA NA NA 0.167 NA 4.9175 1160 10 67008283 67008283 G A intergenic ANXA2P3,CTNNA3 dist=421649;dist=671442 NA NA ncRNA_exonic ENSG00000233724 NA NA NA Score=485;Name=lod=125 NA 10q21.3 NA NA NA NA rs67962230 0.1 0.1 0.09 0.096845 0.0825 0.1111 0.1297 0.0719 0.1074 0.09 0.13 0.14 0.06 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567708 NA NA NA NA NA 0.101 NA 4.9175 1160 10 115964736 115964736 A G intronic TDRD1 NA NA NA intronic ENSG00000095627 NA NA NA Score=251;Name=lod=14 NA 10q25.3 NA NA NA NA rs74613308 0.07 0.07 0.068 0.0565096 0.0825 0.0585 0.0965 0.0371 0.0256 0.08 0.06 0.1 0.06 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.732985 1.732985 NA NA NA NA 0.036 NA 4.9175 1160 11 71380740 71380740 C G intergenic KRTAP5-11,FAM86C1 dist=86819;dist=117817 NA NA ncRNA_exonic ENSG00000239481 NA NA NA Score=784;Name=lod=2055 NA 11q13.4 NA NA NA NA rs139215351 0.08 0.08 0.046 0.091853 0.0825 0.1359 0.0548 0.0053 0.1994 0.08 0.17 0.06 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343134 NA NA NA NA NA NA NA 4.9175 1160 19 57931553 57931553 C T exonic ZNF17 NA synonymous SNV ZNF17:NM_006959:exon3:c.C693T:p.S231S exonic ENSG00000186272 NA synonymous SNV ENSG00000186272:ENST00000601808:exon3:c.C693T:p.S231S,ENSG00000186272:ENST00000307658:exon4:c.C699T:p.S233S NA NA 19q13.43 NA NA NA NA rs10417533 0.22 0.22 0.213 0.226238 0.2694 0.0794 0.2176 0.3449 0.1789 0.26 0.08 0.22 0.31 0.228 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.541114 NA NA 0.252501 0.296953 NA 0.167 NA 4.9167656 1160 1 51753812 51753812 G A UTR3 TTC39A NM_001080494:c.*17C>T,NM_001144832:c.*17C>T NA NA UTR3 ENSG00000085831 ENST00000413473:c.*17C>T,ENST00000447632:c.*17C>T,ENST00000530004:c.*17C>T,ENST00000451380:c.*17C>T,ENST00000262675:c.*17C>T,ENST00000371750:c.*17C>T NA NA NA NA 1p32.3 NA NA Name=2 NA rs635590 0.1 0.1 0.072 0.119209 0.1262 0.0863 0.0879 0.0076 0.319 0.12 0.1 0.14 0.03 0.1512 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40227 NA NA 0.139432 0.032115 NA 0.072 NA 4.9165014 1160 13 103343428 103343428 A G intronic METTL21C NA NA NA intronic ENSG00000139780 NA NA NA NA NA 13q33.1 NA Name=GATA-2 NA NA rs9518810 0.14 0.14 0.124 0.123602 0.0835 0.2024 0.2291 0.0719 0.0787 0.08 0.22 0.21 0.08 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007738 NA NA NA NA NA 0.109 NA 4.9165 1160 22 42546304 42546304 G A intergenic CYP2D7P1,TCF20 dist=5729;dist=9715 NA NA ncRNA_intronic ENSG00000226450 NA NA NA Score=389;Name=lod=51 NA 22q13.2 NA NA NA NA rs12167368 0.07 0.07 0.066 0.0830671 0.0835 0.0298 0.0605 0.1203 0.1033 0.08 0.02 0.07 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351301 NA NA NA NA NA 0.145 NA 4.9165 1160 12 72355504 72355504 A G intronic TPH2 NA NA NA intronic ENSG00000139287 NA NA NA Score=374;Name=lod=44 NA 12q21.1 NA NA NA NA rs76143560 0.01 0.01 0.012 0.0091853 0.0278 NA 0.0216 0.0008 0.002 0.03 NA 0.02 NA 0.0244 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642281 NA NA 0.032161 0.003425 NA NA NA 4.915639 1160 13 24696665 24696665 T C intergenic ANKRD20A19P,SPATA13 dist=173211;dist=38196 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=726;Name=lod=1194 NA 13q12.12 NA NA NA NA rs4770592 0.24 0.24 0.232 0.249601 0.0845 0.3938 0.1902 0.3336 0.1994 0.09 0.39 0.18 0.36 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656846 NA NA NA NA NA 0.138 NA 4.9155 1160 13 24696684 24696684 G A intergenic ANKRD20A19P,SPATA13 dist=173230;dist=38177 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=726;Name=lod=1194 NA 13q12.12 NA NA NA NA rs4770593 0.24 0.24 0.232 0.250599 0.0845 0.3938 0.1902 0.3374 0.1994 0.09 0.39 0.18 0.37 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539118 NA NA NA NA NA 0.145 NA 4.9155 1160 22 22780596 22780596 G A intergenic LOC96610,ZNF280B dist=103272;dist=58176 NA NA ncRNA_exonic ENSG00000253889 NA NA NA NA NA 22q11.22 NA Name=p300,HEY1 NA NA rs4822015 0.15 0.15 0.125 0.164337 0.0845 0.3115 0.3199 0.0061 0.1984 0.08 0.29 0.24 0.01 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125619 NA NA NA NA NA 0.087 NA 4.9155 1160 9 100204202 100204202 C G intronic TDRD7 NA NA NA intronic ENSG00000196116 NA NA NA NA NA 9q22.33 NA NA Name=18 NA rs17332899 0.02 0.02 0.011 0.0197684 0.0308 0.001 0.013 0.0174 0.0358 0.04 0.0017 0.01 0.01 0.0251 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.668976 2.668976 NA 0.028754 0.010899 NA 0.007 NA 4.915346 1160 10 129900858 129900858 C T exonic MKI67 NA synonymous SNV MKI67:NM_001145966:exon12:c.G8166A:p.S2722S,MKI67:NM_002417:exon13:c.G9246A:p.S3082S exonic ENSG00000148773 NA synonymous SNV ENSG00000148773:ENST00000368653:exon12:c.G8166A:p.S2722S,ENSG00000148773:ENST00000368654:exon13:c.G9246A:p.S3082S NA NA 10q26.2 NA NA NA NA rs3191122 0.2 0.2 0.185 0.178115 0.2684 0.121 0.3112 0.0711 0.1943 0.27 0.15 0.33 0.05 0.2356 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413918 NA NA 0.247558 0.08897 ID=COSM147091;OCCURENCE=1(stomach) 0.145 NA 4.9151086 1161 2 170515236 170515236 T G intronic CCDC173 NA NA NA ncRNA_exonic ENSG00000226072 NA NA NA Score=505;Name=lod=151 NA 2q31.1 NA NA NA NA rs1446902 0.32 0.32 0.313 0.310903 0.4185 0.2093 0.2695 0.2905 0.362 0.42 0.19 0.31 0.3 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961852 NA NA NA NA NA 0.377 NA 4.9148333 1161 12 102506044 102506044 T C intronic NUP37 NA NA NA intronic ENSG00000075188 NA NA NA NA NA 12q23.2 Score=909;Name=V$FOXJ2_01 NA NA NA rs2271266 0.1 0.1 0.075 0.0970447 0.0129 0.3026 0.1398 NA 0.0726 0.02 0.3 0.12 NA 0.0611 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144947 NA NA 0.011395 0.008856 NA 0.036 NA 4.914605 1161 1 159860488 159860488 A G intronic CCDC19 NA NA NA intronic ENSG00000213085 NA NA NA NA NA 1q23.2 NA Name=ELF1_(SC-631),E2F6_(H-50),TAL1_(SC-12984) NA NA rs3820100 0.13 0.13 0.136 0.131789 0.0855 0.0556 0.0807 0.3011 0.0654 0.09 0.09 0.08 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655966 NA NA NA NA NA 0.232 NA 4.9145 1161 17 16520610 16520610 G A intergenic ZNF287,ZNF624 dist=48090;dist=3438 NA NA ncRNA_exonic ENSG00000235554 NA NA NA Score=693;Name=lod=875 NA 17p11.2 NA NA NA NA rs62072856 0.05 0.05 0.04 0.0369409 0.0855 NA 0.0476 0.0348 0.0204 0.08 NA 0.05 0.06 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.449576 1.449576 NA NA NA NA 0.022 NA 4.9145 1161 2 170517529 170517529 C A intronic CCDC173 NA NA NA ncRNA_exonic ENSG00000226072 NA NA NA Score=606;Name=lod=387 NA 2q31.1 NA NA NA NA rs7575371 0.35 0.35 0.34 0.349641 0.4195 0.2093 0.281 0.4304 0.362 0.42 0.19 0.33 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.051125 NA NA NA NA NA 0.42 NA 4.9138333 1161 10 97964157 97964157 A G intronic BLNK NA NA NA ncRNA_exonic ENSG00000177853 NA NA NA NA NA 10q24.1 NA NA Name=4 NA rs2242137 0.4 0.4 0.398 0.383986 0.4195 0.3304 0.4424 0.3964 0.3446 0.41 0.38 0.46 0.38 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532869 NA NA NA NA NA 0.297 NA 4.9138333 1161 2 29001691 29001691 A G exonic PPP1CB NA synonymous SNV PPP1CB:NM_002709:exon3:c.A201G:p.Q67Q,PPP1CB:NM_206876:exon4:c.A201G:p.Q67Q exonic ENSG00000213639 NA synonymous SNV ENSG00000213639:ENST00000395366:exon3:c.A201G:p.Q67Q,ENSG00000213639:ENST00000455580:exon3:c.A117G:p.Q39Q,ENSG00000213639:ENST00000296122:exon4:c.A201G:p.Q67Q,ENSG00000213639:ENST00000358506:exon4:c.A201G:p.Q67Q,ENSG00000213639:ENST00000420282:exon4:c.A201G:p.Q67Q,ENSG00000213639:ENST00000441461:exon4:c.A201G:p.Q67Q Score=774;Name=lod=1856 NA 2p23.2 NA NA NA NA rs1128416 0.48 0.48 0.486 0.495407 0.6064 0.2153 0.4395 0.5764 0.6002 0.59 0.24 0.48 0.57 0.5447 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63481 NA NA 0.601768 0.581971 NA 0.42 NA 4.9137986 1161 12 100732327 100732327 C T exonic SCYL2 NA synonymous SNV SCYL2:NM_017988:exon18:c.C2167T:p.L723L exonic ENSG00000136021 NA synonymous SNV ENSG00000136021:ENST00000360820:exon18:c.C2167T:p.L723L NA NA 12q23.1 NA NA NA NA rs10860580 0.23 0.23 0.223 0.236422 0.2674 0.0585 0.1945 0.3933 0.2055 0.26 0.05 0.2 0.41 0.2272 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.424526 NA NA 0.258372 0.354063 NA 0.239 NA 4.9136946 1161 1 17586010 17586010 G A intronic PADI3 NA NA NA intronic ENSG00000142619 NA NA NA NA NA 1p36.13 NA Name=AP-2alpha,AP-2gamma,TCF4,CTCF NA NA rs45438395 0.1 0.1 0.084 0.121006 0.0865 0.1558 0.1326 0.0325 0.2321 0.08 0.15 0.14 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033742 NA NA NA NA NA 0.08 NA 4.9135 1161 19 35024369 35024369 G A intergenic WTIP,SCGB1B2P dist=32284;dist=43269 NA NA ncRNA_exonic ENSG00000239210 NA NA NA Score=635;Name=lod=510 NA 19q13.11 NA NA NA NA rs67962295 0.13 0.13 0.132 0.140176 0.0865 0.0982 0.0663 0.3253 0.0409 0.09 0.05 0.07 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863255 NA NA NA NA NA 0.138 NA 4.9135 1161 1 150241230 150241230 G T UTR5 APH1A NM_001077628:c.-20C>A,NM_016022:c.-20C>A,NM_001243772:c.-20C>A,NM_001243771:c.-20C>A NA NA UTR5 ENSG00000117362 ENST00000369109:c.-20C>A,ENST00000360244:c.-20C>A,ENST00000414276:c.-20C>A,ENST00000236017:c.-20C>A NA NA NA NA 1q21.2 NA Name=Pol2,TAF1,USF-1,ZBTB7A_(SC-34508),STAT1,HEY1,NFKB NA NA rs2275780 0.16 0.16 0.077 0.150559 0.1372 0.38 0.1153 0.0045 0.1503 0.14 0.34 0.12 0.0041 0.1662 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104147 NA NA 0.116838 0.026873 NA 0.058 NA 4.9130954 1161 12 10532326 10532326 T C exonic KLRC4-KLRK1,KLRK1 NA nonsynonymous SNV KLRK1:NM_007360:exon4:c.A214G:p.T72A,KLRC4-KLRK1:NM_001199805:exon9:c.A214G:p.T72A exonic ENSG00000213809 NA nonsynonymous SNV ENSG00000213809:ENST00000540818:exon3:c.A214G:p.T72A,ENSG00000213809:ENST00000240618:exon4:c.A214G:p.T72A,ENSG00000213809:ENST00000396451:exon5:c.A214G:p.T72A NA NA 12p13.2 NA NA NA NA rs2255336 0.76 0.76 0.745 0.76238 0.8171 0.7857 0.8401 0.553 0.91 0.82 0.82 0.81 0.59 0.8036 0.82 0.53 T 0.003 B 0.003 B 0.226 N 1.000 P . . 4.91 T -1.097 T 0.000 T 0.018 2.441 14.12 -1.42 -0.060 -0.809 2.760 2.441146 2.441146 0.16 0.799651 0.57921 ID=COSM430206;OCCURENCE=1(breast) 0.645 NA 4.9129824 1161 17 61986988 61986988 A G UTR3 CSHL1 NM_022581:c.*83T>C,NM_022579:c.*83T>C,NM_001318:c.*83T>C,NM_022580:c.*83T>C NA NA UTR3 ENSG00000204414 ENST00000561003:c.*219T>C,ENST00000259003:c.*83T>C,ENST00000438387:c.*83T>C,ENST00000346606:c.*83T>C,ENST00000450719:c.*219T>C NA NA Score=272;Name=lod=17 NA 17q23.3 NA NA NA NA rs2070680 0.37 0.37 0.323 0.34365 0.4205 0.4216 0.3473 0.2935 0.2495 0.42 0.38 0.39 0.26 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646623 NA NA NA NA NA 0.413 NA 4.9128334 1161 5 151229553 151229553 G A intronic GLRA1 NA NA NA ncRNA_exonic ENSG00000270978 NA NA NA Score=802;Name=lod=2417 NA 5q33.1 NA NA NA NA rs72802219 0.32 0.32 0.3 0.341653 0.4205 0.3135 0.3473 0.2118 0.4611 0.43 0.3 0.31 0.17 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384136 NA NA NA NA NA 0.297 NA 4.9128333 1161 5 151229811 151229811 T G intronic GLRA1 NA NA NA ncRNA_exonic ENSG00000270978 NA NA NA Score=802;Name=lod=2417 NA 5q33.1 NA NA NA NA rs12108921 0.44 0.44 0.442 0.475839 0.4205 0.3323 0.4135 0.6589 0.4775 0.43 0.3 0.38 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556539 NA NA NA NA NA 0.457 NA 4.9128333 1161 5 151230091 151230091 A G intronic GLRA1 NA NA NA ncRNA_exonic ENSG00000270978 NA NA NA Score=802;Name=lod=2417 NA 5q33.1 NA NA NA NA rs6896141 0.41 0.41 0.401 0.450879 0.4205 0.3304 0.4035 0.5711 0.4775 0.43 0.3 0.37 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540498 NA NA NA NA NA 0.399 NA 4.9128333 1161 5 151230282 151230282 C T intronic GLRA1 NA NA NA ncRNA_exonic ENSG00000270978 NA NA NA Score=802;Name=lod=2417 NA 5q33.1 NA NA NA NA rs10078632 0.36 0.36 0.342 0.388379 0.4205 0.3304 0.3703 0.3638 0.4611 0.43 0.3 0.33 0.33 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377611 NA NA NA NA NA 0.362 NA 4.9128333 1161 1 3421642 3421642 C A intronic MEGF6 NA NA NA intronic ENSG00000162591 NA NA NA NA NA 1p36.32 NA NA Name=18 NA rs4648512 NA NA NA 0.0788738 0.0875 0.1052 0.0807 0.0091 0.136 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566007 NA NA NA NA NA 0.014 NA 4.9125 1161 1 196342444 196342444 A G intronic KCNT2 NA NA NA intronic ENSG00000162687 NA NA NA NA NA 1q31.3 NA Name=CTCF NA NA rs73067629 0.09 0.09 0.086 0.0984425 0.0875 NA 0.0706 0.2504 0.0256 0.08 NA 0.07 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421679 NA NA NA NA NA 0.087 NA 4.9125 1161 17 41061489 41061489 T C intronic G6PC NA NA NA intronic ENSG00000131482 NA NA NA NA NA 17q21.31 NA NA Name=14 NA rs161622 0.12 0.12 0.118 0.145367 0.0875 0.004 0.147 0.2799 0.1677 0.09 0.0017 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215167 NA NA NA NA NA 0.196 NA 4.9125 1161 17 78449258 78449258 G T intronic NPTX1 NA NA NA intronic ENSG00000171246 NA NA NA NA NA 17q25.3 NA NA Name=18 NA rs4996915 0.08 0.08 0.046 0.0974441 0.0875 0.1121 0.1484 0.0053 0.181 0.09 0.1 0.12 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745888 NA NA NA NA NA NA NA 4.9125 1161 13 74518210 74518210 G A intronic KLF12 NA NA NA intronic ENSG00000118922 NA NA NA Score=653;Name=lod=603 NA 13q22.1 Score=758;Name=V$STAT5A_02 NA NA NA rs9573330 0.31 0.31 0.307 0.317093 0.3728 0.2411 0.2723 0.3487 0.3272 0.35 0.24 0.29 0.33 0.3441 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.403313 1.403313 NA 0.370698 0.31616 NA 0.399 NA 4.912402 1161 1 154988957 154988957 A G exonic ZBTB7B NA synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P exonic ENSG00000160685 NA synonymous SNV ENSG00000160685:ENST00000292176:exon2:c.A1416G:p.P472P,ENSG00000160685:ENST00000368426:exon4:c.A1416G:p.P472P,ENSG00000160685:ENST00000417934:exon5:c.A1518G:p.P506P,ENSG00000160685:ENST00000535420:exon5:c.A1416G:p.P472P NA NA 1q21.3 Score=887;Name=V$SPZ1_01 NA NA NA rs2242195 0.65 0.65 0.615 0.673522 0.5785 0.9127 0.7478 0.4811 0.7321 0.55 0.93 0.7 0.46 0.6192 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.427585 NA NA 0.556628 0.51271 NA 0.609 NA 4.9123386 1161 11 5142549 5142549 T C intergenic OR52E2,OR52A5 dist=61692;dist=10373 NA NA ncRNA_exonic ENSG00000205494 NA NA NA NA NA 11p15.4 NA NA NA NA rs7947334 0.42 0.42 0.428 0.388778 0.3618 0.4792 0.3545 0.4607 0.2505 0.37 0.49 0.36 0.45 0.368 0.49 1 T 0.0 B 0.0 B . . 0.997 P . . . . -0.922 T 0.000 T . 1.007 9.111 1.13 0.138 -3.873 0.952 1.006509 NA 1 0.357957 0.443889 NA 0.42 NA 4.912243 1161 18 346821 346821 C T exonic COLEC12 NA synonymous SNV COLEC12:NM_130386:exon5:c.G801A:p.T267T exonic ENSG00000158270 NA synonymous SNV ENSG00000158270:ENST00000400256:exon5:c.G801A:p.T267T NA NA 18p11.32 NA NA NA NA rs3826628 0.24 0.24 0.217 0.233227 0.2545 0.2153 0.2839 0.177 0.2699 0.26 0.26 0.28 0.15 0.2501 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045599 NA NA 0.25 0.182025 ID=COSM1388632;OCCURENCE=1(large_intestine) 0.232 NA 4.9120666 1161 2 212522450 212522450 C T intronic ERBB4 NA NA NA intronic ENSG00000178568 NA NA NA Score=694;Name=lod=882 NA 2q34 NA NA NA NA rs35497618 0.02 0.02 0.01 0.0141773 0.0288 NA 0.0331 0.0023 0.0164 0.03 NA 0.03 0.0041 0.0258 0.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.06403 2.06403 NA 0.033488 0.010894 NA 0.029 NA 4.911912 1161 12 103248924 103248924 C T exonic PAH NA synonymous SNV PAH:NM_000277:exon6:c.G696A:p.Q232Q exonic ENSG00000171759 NA synonymous SNV ENSG00000171759:ENST00000553106:exon6:c.G696A:p.Q232Q,ENSG00000171759:ENST00000307000:exon7:c.G681A:p.Q227Q NA NA 12q23.2 NA NA NA NA rs1126758 0.52 0.52 0.513 0.546526 0.5815 0.0794 0.6888 0.8011 0.547 0.58 0.08 0.68 0.83 0.5785 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19514 NA NA 0.594767 0.768271 NA 0.536 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000089040.1;CLNDSDB=.;CLNDSDBID=. 4.9118996 1161 5 177020602 177020602 A C intronic TMED9 NA NA NA intronic ENSG00000184840 NA NA NA NA NA 5q35.3 NA NA Name=4 NA rs114424853 0.02 0.02 0.014 0.0119808 0.0328 NA 0.0159 0.0015 0.0143 0.03 NA 0.02 0.0041 0.0231 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225664 NA NA 0.032326 0.006128 NA 0.007 NA 4.911774 1161 6 39851818 39851818 G A exonic DAAM2 NA synonymous SNV DAAM2:NM_001201427:exon15:c.G1926A:p.K642K,DAAM2:NM_015345:exon15:c.G1926A:p.K642K exonic ENSG00000146122 NA synonymous SNV ENSG00000146122:ENST00000274867:exon15:c.G1926A:p.K642K,ENSG00000146122:ENST00000398904:exon15:c.G1926A:p.K642K,ENSG00000146122:ENST00000538976:exon15:c.G1926A:p.K642K Score=554;Name=lod=237 NA 6p21.2 NA NA NA NA rs3003929 0.59 0.59 0.557 0.602236 0.5765 0.749 0.5504 0.4622 0.7035 0.58 0.77 0.51 0.48 0.6112 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557025 NA NA 0.567453 0.499212 NA 0.601 NA 4.9115136 1161 1 157029857 157029857 T C intergenic ARHGEF11,ETV3L dist=14695;dist=31978 NA NA ncRNA_exonic ENSG00000237842 NA NA NA Score=880;Name=lod=5040 NA 1q23.1 NA NA NA NA rs11577688 0.05 0.05 0.049 0.0485224 0.0885 0.002 0.0288 0.0537 0.0624 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907966 NA NA NA NA NA 0.043 NA 4.9115 1161 1 157030077 157030077 T A intergenic ARHGEF11,ETV3L dist=14915;dist=31758 NA NA ncRNA_exonic ENSG00000237842 NA NA NA Score=880;Name=lod=5040 NA 1q23.1 NA NA NA NA rs61329932 0.05 0.05 0.042 0.0485224 0.0885 0.002 0.0288 0.0537 0.0624 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523693 NA NA NA NA NA 0.043 NA 4.9115 1161 1 157030082 157030082 C T intergenic ARHGEF11,ETV3L dist=14920;dist=31753 NA NA ncRNA_exonic ENSG00000237842 NA NA NA Score=880;Name=lod=5040 NA 1q23.1 NA NA NA NA rs58824481 0.05 0.05 0.045 0.0485224 0.0885 0.002 0.0288 0.0537 0.0624 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.843824 NA NA NA NA NA 0.043 NA 4.9115 1161 1 157030099 157030099 G A intergenic ARHGEF11,ETV3L dist=14937;dist=31736 NA NA ncRNA_exonic ENSG00000237842 NA NA NA Score=880;Name=lod=5040 NA 1q23.1 NA NA NA NA rs59571768 0.05 0.05 0.041 0.0485224 0.0885 0.002 0.0288 0.0537 0.0624 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429805 NA NA NA NA NA 0.043 NA 4.9115 1161 1 157030280 157030280 T C intergenic ARHGEF11,ETV3L dist=15118;dist=31555 NA NA ncRNA_exonic ENSG00000237842 NA NA NA Score=880;Name=lod=5040 NA 1q23.1 NA NA NA NA rs1706 0.06 0.06 0.072 0.0672923 0.0885 0.002 0.0375 0.1203 0.0624 0.09 0.0017 0.03 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.967932 NA NA NA NA NA 0.051 NA 4.9115 1161 2 28843909 28843909 G A intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA Name=BAF155 NA NA rs35166577 0.06 0.06 0.057 0.0461262 0.0885 NA 0.0461 0.0575 0.0348 0.09 NA 0.07 0.07 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74029 NA NA NA NA NA 0.014 NA 4.9115 1161 3 149180264 149180264 T A intergenic TM4SF1,TM4SF4 dist=84696;dist=12104 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=486;Name=lod=126 NA 3q25.1 NA NA NA NA rs76363484 0.06 0.06 0.05 0.047524 0.0885 0.0268 0.0836 0.0189 0.0399 0.1 0.02 0.06 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.387969 1.387969 NA NA NA NA 0.094 NA 4.9115 1161 3 149180288 149180288 G A intergenic TM4SF1,TM4SF4 dist=84720;dist=12080 NA NA ncRNA_exonic ENSG00000241929 NA NA NA Score=486;Name=lod=126 NA 3q25.1 NA NA NA NA rs75245652 0.05 0.05 0.053 0.04373 0.0885 0.0268 0.0836 0.0121 0.0297 0.1 0.02 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638065 NA NA NA NA NA 0.08 NA 4.9115 1161 19 41675829 41675829 C T intergenic CYP2F1,CYP2S1 dist=41548;dist=23286 NA NA ncRNA_exonic ENSG00000224476 NA NA NA Score=696;Name=lod=900 NA 19q13.2 NA NA NA NA rs4802110 0.15 0.15 0.13 0.154952 0.0885 0.0804 0.268 0.2648 0.0716 0.08 0.1 0.24 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956445 NA 0.04 NA NA NA 0.094 NA 4.9115 1161 2 230632268 230632268 G A UTR3 TRIP12 NM_004238:c.*2C>T NA NA UTR3 ENSG00000153827 ENST00000283943:c.*2C>T,ENST00000389044:c.*2C>T,ENST00000389045:c.*2C>T NA NA Score=499;Name=lod=142 NA 2q36.3 NA NA NA NA rs6687 0.15 0.15 0.152 0.147165 0.1461 0.1062 0.1873 0.2088 0.0787 0.14 0.11 0.19 0.19 0.1409 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.831067 1.831067 NA 0.134884 0.213799 NA 0.123 NA 4.9114494 1161 19 57065189 57065189 T C exonic ZFP28 NA synonymous SNV ZFP28:NM_020828:exon8:c.T1035C:p.F345F exonic ENSG00000196867 NA synonymous SNV ENSG00000196867:ENST00000301318:exon8:c.T1035C:p.F345F NA NA 19q13.43 NA NA NA NA rs145011 0.23 0.23 0.205 0.231629 0.2396 0.3294 0.304 0.0545 0.3108 0.26 0.33 0.25 0.07 0.2632 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179263 NA NA 0.252674 0.073082 ID=COSM148774;OCCURENCE=1(stomach) 0.203 NA 4.9111926 1161 6 32709179 32709179 A G UTR5 HLA-DQA2 NM_020056:c.-42A>G NA NA UTR5 ENSG00000237541 ENST00000374940:c.-42A>G NA NA NA NA 6p21.32 NA Name=NFKB,TBP,TAF1,Pol2,Pol2-4H8 NA NA rs9276400 0.11 0.11 0.105 0.124401 0.1441 0.0724 0.1585 0.1218 0.137 0.13 0.06 0.16 0.12 0.1339 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477267 NA NA 0.144186 0.113709 NA 0.109 NA 4.9111474 1161 6 5000031 5000031 C T intronic RPP40 NA NA NA intronic ENSG00000124787 NA NA NA NA NA 6p25.1 NA NA Name=10 NA rs62385119 0.03 0.03 0.017 0.0277556 0.0278 0.0387 0.0303 0.0008 0.0511 0.03 0.04 0.04 NA 0.0278 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13317 NA NA 0.033279 0.003858 NA 0.022 NA 4.911121 1161 2 99995804 99995804 T C exonic EIF5B NA synonymous SNV EIF5B:NM_015904:exon12:c.T1974C:p.D658D exonic ENSG00000158417 NA synonymous SNV ENSG00000158417:ENST00000289371:exon12:c.T1974C:p.D658D Score=502;Name=lod=146 NA 2q11.2 NA NA NA NA rs1376443 0.59 0.59 0.554 0.603834 0.5865 0.3681 0.7104 0.7602 0.5777 0.6 0.37 0.71 0.76 0.5973 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197184 NA NA 0.571881 0.751058 NA 0.572 NA 4.9109856 1161 5 96079402 96079402 C T intronic CAST NA NA NA exonic ENSG00000153113 NA synonymous SNV ENSG00000153113:ENST00000515663:exon1:c.C72T:p.D24D NA NA 5q15 NA Name=GABP,c-Jun,GATA-2,Pol2 Name=72 NA rs26506 0.55 0.55 0.534 0.541534 0.6759 0.4335 0.6297 0.4607 0.5613 0.66 0.47 0.61 0.45 0.6011 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10206 NA NA 0.645349 0.508398 NA 0.572 NA 4.9109843 1161 11 124135009 124135009 G A exonic OR8G5 NA nonsynonymous SNV OR8G5:NM_001005198:exon1:c.G287A:p.C96Y ncRNA_exonic ENSG00000255298 NA NA NA Score=431;Name=lod=75 NA 11q24.2 NA NA NA NA rs2512168 0.45 0.45 0.438 0.438498 0.5527 0.5833 0.5591 0.292 0.2843 0.49 0.55 0.49 0.23 0.4966 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142865 NA NA 0.540187 0.31789 NA 0.297 NA 4.910513 1161 7 94412664 94412664 A T intergenic PEG10,PPP1R9A dist=113658;dist=124285 NA NA ncRNA_exonic ENSG00000230682 NA NA NA Score=651;Name=lod=590 NA 7q21.3 NA NA NA NA rs7782084 0.13 0.13 0.135 0.148962 0.0895 0.1845 0.0447 0.2526 0.1074 0.1 0.13 0.05 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360752 NA NA NA NA NA 0.123 NA 4.9105 1161 10 3150814 3150814 G C intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA Name=Pol2 NA NA rs17132175 0.07 0.07 0.061 0.0623003 0.0895 0.0099 0.0821 0.087 0.0409 0.09 0.01 0.1 0.09 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10118 NA NA NA NA NA 0.072 NA 4.9105 1161 10 76979218 76979218 G C intronic VDAC2 NA NA NA intronic ENSG00000165637 NA NA NA NA NA 10q22.2 NA NA Name=2 NA rs7896741 0.19 0.19 0.179 0.170327 0.0895 0.249 0.1729 0.1876 0.1472 0.09 0.28 0.22 0.2 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024012 NA NA NA NA NA 0.174 NA 4.9105 1161 13 79740834 79740834 T C intergenic LINC00331,RBM26 dist=326649;dist=153266 NA NA ncRNA_exonic ENSG00000226670 NA NA NA Score=607;Name=lod=389 NA 13q31.1 NA NA NA NA rs55772342 0.04 0.04 0.024 0.0311502 0.0895 0.001 0.0663 0.0045 0.0133 0.07 0.0017 0.07 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228365 NA NA NA NA NA 0.101 NA 4.9105 1161 14 22032592 22032592 G A intergenic SALL2,OR10G3 dist=27255;dist=5342 NA NA ncRNA_exonic ENSG00000256737 NA NA NA Score=841;Name=lod=3499 NA 14q11.2 NA NA NA NA rs72686005 0.07 0.07 0.052 0.0766773 0.0895 0.0407 0.2709 0.0091 0.0542 0.09 0.02 0.21 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372747 NA NA NA NA NA 0.101 NA 4.9105 1161 4 2341194 2341194 T C exonic ZFYVE28 NA synonymous SNV ZFYVE28:NM_001172658:exon3:c.A366G:p.A122A,ZFYVE28:NM_001172656:exon4:c.A507G:p.A169A,ZFYVE28:NM_001172657:exon4:c.A507G:p.A169A,ZFYVE28:NM_001172659:exon4:c.A297G:p.A99A,ZFYVE28:NM_001172660:exon4:c.A297G:p.A99A,ZFYVE28:NM_020972:exon4:c.A507G:p.A169A exonic ENSG00000159733 NA synonymous SNV ENSG00000159733:ENST00000509171:exon3:c.A366G:p.A122A,ENSG00000159733:ENST00000290974:exon4:c.A507G:p.A169A,ENSG00000159733:ENST00000503000:exon4:c.A507G:p.A169A,ENSG00000159733:ENST00000511071:exon4:c.A507G:p.A169A,ENSG00000159733:ENST00000515169:exon4:c.A297G:p.A99A,ENSG00000159733:ENST00000515312:exon4:c.A297G:p.A99A NA NA 4p16.3 NA NA Name=4 NA rs2071680 0.65 0.65 0.648 0.642173 0.5815 0.6994 0.7075 0.6944 0.5286 0.57 0.68 0.69 0.71 0.6036 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785558 NA NA 0.571628 0.678393 NA 0.739 NA 4.9099386 1161 1 48902552 48902552 G A intronic SPATA6 NA NA NA ncRNA_exonic ENSG00000235105 NA NA NA Score=692;Name=lod=867 NA 1p33 NA NA NA NA rs1890321 NA NA 0.24 0.272564 0.4235 0.3462 0.3329 0.025 0.3333 NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211512 NA NA NA NA ID=COSN163078;OCCURENCE=1(breast) 0.319 NA 4.9098333 1161 4 113279968 113279968 C G intronic ALPK1 NA NA NA ncRNA_exonic ENSG00000251441 NA NA NA Score=425;Name=lod=71 NA 4q25 NA NA NA NA rs4834268 0.27 0.27 0.26 0.222045 0.4235 0.0595 0.3516 0.1891 0.135 0.42 0.06 0.37 0.19 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127164 NA NA NA NA NA 0.312 NA 4.9098333 1161 8 87669743 87669743 G A intronic CNGB3 NA NA NA ncRNA_exonic ENSG00000205333 NA NA NA Score=414;Name=lod=64 NA 8q21.3 NA NA NA NA rs59109039 0.42 0.42 0.457 0.429313 0.4235 0.3839 0.3213 0.5635 0.3773 0.4 0.4 0.37 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388713 NA NA NA NA NA 0.377 NA 4.9098333 1161 3 182410002 182410002 C T intergenic FLJ46066,ATP11B dist=205852;dist=101289 NA NA ncRNA_exonic ENSG00000243378 NA NA NA NA NA 3q26.33 NA Name=PAX5-C20 NA NA rs2717319 0.05 0.05 0.053 0.0509185 0.0905 0.0377 0.062 0.0182 0.0603 0.08 0.03 0.08 0.02 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291697 NA NA NA NA NA 0.036 NA 4.9095 1161 15 78196749 78196749 G A intergenic LOC253044,LOC645752 dist=255168;dist=9810 NA NA ncRNA_intronic ENSG00000260139 NA NA NA NA NA 15q24.3 NA Name=c-Myc NA NA rs28434001 0.07 0.07 0.071 0.0646965 0.0905 0.0506 0.0576 0.0514 0.0757 0.08 0.06 0.06 0.07 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568111 NA NA NA NA NA 0.094 NA 4.9095 1161 14 95918826 95918826 A G intronic SYNE3 NA NA NA intronic ENSG00000176438 NA NA NA NA NA 14q32.13 NA Name=CTCF NA NA rs7145199 0.05 0.05 0.047 0.0551118 0.0905 0.002 0.0677 0.0189 0.1135 0.09 0.0017 0.09 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320562 NA NA NA NA NA 0.123 NA 4.9095 1161 21 47532553 47532553 A G intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 Score=924;Name=V$ZIC3_01 NA NA NA rs112472569 0.04 0.04 0.037 0.0255591 0.0905 NA 0.036 0.003 0.0082 0.08 NA 0.05 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140713 NA NA NA NA NA 0.007 NA 4.9095 1161 22 22759094 22759094 T C intergenic LOC96610,ZNF280B dist=81770;dist=79678 NA NA downstream ENSG00000253818 NA NA NA NA NA 22q11.22 NA Name=PU.1,TCF12 Name=2 NA rs427141 0.62 0.62 0.604 0.64996 0.5905 0.5575 0.696 0.7474 0.6421 0.59 0.56 0.65 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241872 NA NA NA NA NA 0.63 NA 4.9095 1161 16 58545426 58545426 A G exonic NDRG4 NA synonymous SNV NDRG4:NM_001242834:exon14:c.A1020G:p.S340S,NDRG4:NM_001242836:exon14:c.A966G:p.S322S,NDRG4:NM_001242833:exon15:c.A1056G:p.S352S,NDRG4:NM_001242835:exon15:c.A1005G:p.S335S,NDRG4:NM_001130487:exon16:c.A1122G:p.S374S,NDRG4:NM_020465:exon16:c.A1062G:p.S354S,NDRG4:NM_022910:exon16:c.A1062G:p.S354S exonic ENSG00000103034 NA synonymous SNV ENSG00000103034:ENST00000562999:exon13:c.A930G:p.S310S,ENSG00000103034:ENST00000563799:exon14:c.A1020G:p.S340S,ENSG00000103034:ENST00000566192:exon14:c.A966G:p.S322S,ENSG00000103034:ENST00000568640:exon14:c.A1020G:p.S340S,ENSG00000103034:ENST00000569923:exon14:c.A801G:p.S267S,ENSG00000103034:ENST00000356752:exon15:c.A1056G:p.S352S,ENSG00000103034:ENST00000570248:exon15:c.A1005G:p.S335S,ENSG00000103034:ENST00000258187:exon16:c.A1062G:p.S354S,ENSG00000103034:ENST00000394279:exon16:c.A1062G:p.S354S,ENSG00000103034:ENST00000394282:exon16:c.A1122G:p.S374S NA NA 16q21 Score=839;Name=V$EGR2_01 NA NA NA rs42945 0.79 0.79 0.782 0.814297 0.5577 0.9673 0.7392 0.9561 0.7822 0.58 0.97 0.71 0.95 0.6629 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364806 1.364806 NA 0.536886 0.883303 NA 0.768 NA 4.9091806 1161 6 139206592 139206592 G C intronic ECT2L NA NA NA intronic ENSG00000203734 NA NA NA NA NA 6q24.1 NA NA Name=6 NA rs17067990 0.12 0.12 0.133 0.127396 0.0209 0.2173 0.0346 0.2474 0.0481 0.02 0.23 0.04 0.22 0.0509 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939118 NA NA 0.019059 0.179836 NA 0.116 NA 4.909141 1161 10 129903465 129903465 A G exonic MKI67 NA synonymous SNV MKI67:NM_001145966:exon12:c.T5559C:p.H1853H,MKI67:NM_002417:exon13:c.T6639C:p.H2213H exonic ENSG00000148773 NA synonymous SNV ENSG00000148773:ENST00000368653:exon12:c.T5559C:p.H1853H,ENSG00000148773:ENST00000368654:exon13:c.T6639C:p.H2213H NA NA 10q26.2 NA NA NA NA rs2857028 0.21 0.21 0.18 0.190895 0.2704 0.12 0.3156 0.1172 0.1933 0.27 0.15 0.33 0.1 0.2393 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416215 NA NA 0.248023 0.131185 NA 0.152 NA 4.9089436 1161 7 51327575 51327575 C T intronic COBL NA NA NA ncRNA_exonic ENSG00000231490 NA NA NA Score=589;Name=lod=331 NA 7p12.1 NA NA NA NA rs11767820 0.25 0.25 0.227 0.221046 0.4245 0.1548 0.2493 0.0401 0.3047 0.44 0.14 0.27 0.04 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223983 NA NA NA NA NA 0.254 NA 4.9088333 1161 1 151783736 151783736 G A intronic RORC NA NA NA intronic ENSG00000143365 NA NA NA NA NA 1q21.3 NA NA Name=25 NA rs2280471 0.11 0.11 0.114 0.0988419 0.0915 0.1478 0.0865 0.0961 0.0685 0.09 0.16 0.07 0.09 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545191 NA NA NA NA NA 0.152 NA 4.9085 1161 15 90347331 90347331 G A intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA Name=13 NA rs55977698 0.05 0.05 0.043 0.0409345 0.0915 0.001 0.0389 0.0287 0.0481 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795643 NA NA NA NA NA 0.101 NA 4.9085 1161 5 6656210 6656210 G A exonic SRD5A1 NA synonymous SNV SRD5A1:NM_001047:exon3:c.G480A:p.T160T exonic ENSG00000145545 NA nonsynonymous SNV ENSG00000145545:ENST00000513117:exon2:c.G313A:p.G105R NA NA 5p15.31 NA NA NA NA rs3736316 0.32 0.32 0.305 0.288938 0.3897 0.1587 0.3919 0.3298 0.1912 0.37 0.15 0.43 0.35 0.3277 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15955 NA NA 0.374186 0.329551 ID=COSM149789;OCCURENCE=1(stomach) 0.464 NA 4.908414 1161 4 56475338 56475338 G A exonic NMU NA synonymous SNV NMU:NM_006681:exon4:c.C228T:p.N76N exonic ENSG00000109255 NA synonymous SNV ENSG00000109255:ENST00000511469:exon3:c.C180T:p.N60N,ENSG00000109255:ENST00000264218:exon4:c.C228T:p.N76N,ENSG00000109255:ENST00000505262:exon4:c.C228T:p.N76N,ENSG00000109255:ENST00000507338:exon4:c.C228T:p.N76N NA NA 4q12 NA NA NA NA rs3805383 0.19 0.19 0.171 0.197085 0.2783 0.1042 0.1844 0.1362 0.3006 0.29 0.11 0.23 0.1 0.2312 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.458083 NA NA 0.248837 0.149342 NA 0.196 NA 4.9083296 1161 14 58838668 58838668 A G exonic ARID4A NA synonymous SNV ARID4A:NM_023001:exon23:c.A3528G:p.S1176S,ARID4A:NM_002892:exon24:c.A3735G:p.S1245S,ARID4A:NM_023000:exon24:c.A3573G:p.S1191S exonic ENSG00000032219 NA synonymous SNV ENSG00000032219:ENST00000431317:exon22:c.A3528G:p.S1176S,ENSG00000032219:ENST00000348476:exon23:c.A3528G:p.S1176S,ENSG00000032219:ENST00000355431:exon24:c.A3735G:p.S1245S,ENSG00000032219:ENST00000395168:exon24:c.A3573G:p.S1191S Score=563;Name=lod=258 NA 14q23.1 NA NA NA NA rs1051860 0.51 0.51 0.484 0.539137 0.5915 0.4762 0.6902 0.3797 0.6585 0.57 0.47 0.65 0.39 0.5777 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269886 NA NA 0.589651 0.414435 NA 0.565 NA 4.9078156 1161 1 82187986 82187986 A C intergenic NONE,LPHN2 dist=NONE;dist=78096 NA NA ncRNA_intronic ENSG00000215875 NA NA NA Score=537;Name=lod=203 NA 1p31.1 NA NA NA NA rs115855639 0.06 0.06 0.048 0.0626997 0.0924 0.0476 0.0418 0.0492 0.0808 0.09 0.06 0.05 0.05 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408126 NA NA NA NA NA 0.058 NA 4.9076 1161 1 82188040 82188040 T C intergenic NONE,LPHN2 dist=NONE;dist=78042 NA NA ncRNA_exonic ENSG00000215875 NA NA NA Score=537;Name=lod=203 NA 1p31.1 NA NA NA NA rs115420117 0.07 0.07 0.064 0.0708866 0.0924 0.0476 0.0447 0.0787 0.0808 0.09 0.06 0.05 0.07 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885268 NA NA NA NA NA 0.065 NA 4.9076 1161 4 69727220 69727220 C T intergenic UGT2B10,UGT2A3 dist=29479;dist=66957 NA NA ncRNA_exonic ENSG00000249235 NA NA NA Score=537;Name=lod=203 NA 4q13.2 NA NA NA NA rs78060896 0.13 0.13 0.117 0.114217 0.0924 0.1756 0.0836 0.1407 0.0593 0.11 0.17 0.09 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.551143 2.551143 NA NA NA NA 0.167 NA 4.9076 1161 5 32093210 32093210 C T intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA Name=ZNF263 NA NA rs28450841 0.13 0.13 0.128 0.127995 0.0924 0.2381 0.1484 0.0658 0.1207 0.08 0.26 0.11 0.05 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69261 NA NA NA NA NA 0.072 NA 4.9076 1161 5 141304326 141304326 T G intronic KIAA0141 NA NA NA intronic ENSG00000081791 NA NA NA NA NA 5q31.3 NA Name=Pol2 NA NA rs112383381 NA NA 0.049 0.147564 0.0924 0.0437 0.0706 0.3041 0.1544 NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492044 NA NA NA NA NA 0.101 NA 4.9076 1161 9 140416025 140416025 A G intronic PNPLA7 NA NA NA intronic ENSG00000130653 NA NA NA NA NA 9q34.3 NA NA Name=3 NA rs2298172 0.22 0.22 0.211 0.229034 0.0924 0.2341 0.0908 0.4728 0.1329 0.1 0.23 0.09 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608359 NA NA NA NA ID=COSN168710;OCCURENCE=1(large_intestine) 0.283 NA 4.9076 1161 2 152475938 152475938 T G intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA Name=JunD,c-Jun,eGFP-JunD,GATA-2,c-Fos,PU.1,CTCF Name=67 NA rs10186656 0.29 0.29 0.266 0.248802 0.3688 0.245 0.281 0.1702 0.2127 0.37 0.26 0.28 0.19 0.3408 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365189 NA NA 0.382953 0.174684 NA 0.225 NA 4.907447 1161 22 26690407 26690407 T C intronic SEZ6L NA NA NA intronic ENSG00000100095 NA NA NA NA NA 22q12.1 NA Name=EBF1_(C-8),EBF Name=13 NA rs137204 0.25 0.25 0.239 0.210264 0.3847 0.003 0.2695 0.2708 0.1207 0.39 NA 0.32 0.26 0.3074 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584932 NA NA 0.400814 0.279846 NA 0.196 NA 4.907086 1161 22 26937327 26937327 C G exonic TPST2 NA synonymous SNV TPST2:NM_001008566:exon3:c.G270C:p.A90A,TPST2:NM_003595:exon3:c.G270C:p.A90A exonic ENSG00000128294 NA synonymous SNV ENSG00000128294:ENST00000442495:exon2:c.G270C:p.A90A,ENSG00000128294:ENST00000338754:exon3:c.G270C:p.A90A,ENSG00000128294:ENST00000398110:exon3:c.G270C:p.A90A,ENSG00000128294:ENST00000454778:exon3:c.G270C:p.A90A,ENSG00000128294:ENST00000403880:exon4:c.G270C:p.A90A Score=633;Name=lod=498 NA 22q12.1 Score=833;Name=V$ROAZ_01 NA NA NA rs4822735 0.97 0.97 0.071 0.914537 0.9294 1 0.9337 0.7746 0.9867 0.92 1 0.96 1 0.9216 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994536 NA NA 0.909017 0.983182 NA 0.862 NA 4.9066496 1161 2 184022112 184022112 A G intronic NUP35 NA NA NA intronic ENSG00000163002 NA NA NA NA NA 2q32.1 NA NA Name=6 NA rs72894593 0.03 0.03 0.033 0.0285543 0.0497 NA 0.0375 0.0356 0.0204 0.05 NA 0.04 0.04 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542633 NA NA 0.043683 0.021676 NA 0.072 NA 4.906617 1161 5 114726461 114726461 T C intergenic CCDC112,FEM1C dist=94003;dist=130147 NA NA ncRNA_exonic ENSG00000249026 NA NA NA Score=795;Name=lod=2268 NA 5q22.3 NA NA NA NA rs3752052 0.11 0.11 0.103 0.102835 0.0934 0.1151 0.1052 0.1399 0.0481 0.09 0.12 0.08 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192869 NA NA NA NA NA 0.109 NA 4.9066 1161 14 21631426 21631426 C T intergenic OR5AU1,LINC00641 dist=7242;dist=36812 NA NA ncRNA_exonic ENSG00000259102 NA NA NA Score=795;Name=lod=2266 NA 14q11.2 NA NA NA NA rs10149869 0.16 0.16 0.17 0.173722 0.0934 0.3333 0.1383 0.1452 0.1554 0.08 0.29 0.14 0.14 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27114 NA NA NA NA ID=COSN164608;OCCURENCE=1(breast) 0.145 NA 4.9066 1161 14 25901275 25901275 G A intergenic STXBP6,NOVA1 dist=382180;dist=1013814 NA NA ncRNA_exonic ENSG00000257976 NA NA NA Score=671;Name=lod=713 NA 14q12 NA NA NA NA rs112958249 0.05 0.05 0.036 0.0541134 0.0934 0.001 0.0576 0.0023 0.136 0.1 NA 0.07 0.0041 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4798 NA NA NA NA NA 0.036 NA 4.9066 1161 21 37660190 37660190 C T intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA Name=3 NA rs78702655 0.06 0.06 0.061 0.052516 0.0934 0.004 0.0793 0.0575 0.0348 0.09 NA 0.09 0.07 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134263 NA NA NA NA NA 0.051 NA 4.9066 1161 19 3767265 3767265 C T exonic MRPL54 NA synonymous SNV MRPL54:NM_172251:exon3:c.C291T:p.F97F exonic ENSG00000183617 NA synonymous SNV ENSG00000183617:ENST00000330133:exon3:c.C291T:p.F97F Score=401;Name=lod=57 NA 19p13.3 NA NA NA NA rs7239 0.62 0.62 0.592 0.607827 0.5775 0.8026 0.621 0.4236 0.6779 0.58 0.81 0.63 0.46 0.5995 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128313 NA NA 0.583256 0.471857 NA 0.594 NA 4.9064106 1161 2 44104925 44104925 T C exonic ABCG8 NA nonsynonymous SNV ABCG8:NM_022437:exon13:c.T1895C:p.V632A exonic ENSG00000143921 NA nonsynonymous SNV ENSG00000143921:ENST00000272286:exon13:c.T1895C:p.V632A NA NA 2p21 NA NA NA NA rs6544718 0.89 0.89 0.911 0.922923 0.8042 1 0.8559 0.9887 0.9243 0.79 1 0.83 0.98 0.8421 1 0.91 T 0.0 B 0.0 B 0.556 N 1.000 P -1.78 N 2.43 T -1.008 T 0.000 T 0.021 -0.756 0.801 0.054 -0.225 0.137 5.343 -0.755503 NA 1 0.780814 0.947345 NA 0.92 NA 4.9062194 1161 22 26956495 26956495 A G intronic TPST2 NA NA NA ncRNA_exonic ENSG00000213707 NA NA NA Score=751;Name=lod=1507 NA 22q12.1 NA NA NA NA rs9613210 0.45 0.45 0.376 0.43131 0.4274 0.5784 0.464 0.2958 0.4438 0.43 0.55 0.49 0.33 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.046771 3.046771 NA NA NA NA 0.29 NA 4.9059333 1161 1 80749361 80749361 G A intergenic ELTD1,LPHN2 dist=1276866;dist=1516721 NA NA ncRNA_exonic ENSG00000236407 NA NA NA Score=664;Name=lod=664 NA 1p31.1 NA NA NA NA rs1776290 0.14 0.14 0.14 0.142971 0.0944 0.0962 0.2349 0.1936 0.1074 0.1 0.12 0.21 0.19 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668005 NA NA NA NA NA 0.116 NA 4.9056 1161 5 114727021 114727021 G A intergenic CCDC112,FEM1C dist=94563;dist=129587 NA NA ncRNA_exonic ENSG00000249026 NA NA NA Score=639;Name=lod=529 NA 5q22.3 NA NA NA NA rs3752051 0.11 0.11 0.106 0.10623 0.0944 0.1151 0.1066 0.1513 0.0481 0.09 0.12 0.08 0.16 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224048 NA NA NA NA NA 0.145 NA 4.9056 1161 5 114727085 114727085 C T intergenic CCDC112,FEM1C dist=94627;dist=129523 NA NA ncRNA_exonic ENSG00000249026 NA NA NA Score=639;Name=lod=529 NA 5q22.3 NA NA NA NA rs3752050 0.08 0.08 0.066 0.072484 0.0944 0.1181 0.1009 0.025 0.047 0.09 0.12 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.041122 NA NA NA NA NA 0.065 NA 4.9056 1161 5 114727949 114727949 C T intergenic CCDC112,FEM1C dist=95491;dist=128659 NA NA ncRNA_exonic ENSG00000249026 NA NA NA Score=667;Name=lod=683 NA 5q22.3 NA NA NA NA rs3752048 0.08 0.08 0.073 0.0720847 0.0944 0.1151 0.1009 0.025 0.0481 0.09 0.12 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365414 NA NA NA NA NA 0.058 NA 4.9056 1161 10 93427302 93427302 G A intergenic PPP1R3C,TNKS2 dist=34444;dist=130849 NA NA ncRNA_exonic ENSG00000213449 NA NA NA Score=681;Name=lod=778 NA 10q23.32 NA NA NA NA rs75343000 0.04 0.04 0.032 0.0315495 0.0944 0.001 0.0533 0.0061 0.0174 0.09 NA 0.04 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310872 NA NA NA NA NA 0.014 NA 4.9056 1161 16 68598007 68598007 A G exonic ZFP90 NA synonymous SNV ZFP90:NM_133458:exon4:c.A1317G:p.Q439Q exonic ENSG00000184939 NA synonymous SNV ENSG00000184939:ENST00000398253:exon4:c.A1317G:p.Q439Q,ENSG00000184939:ENST00000563169:exon5:c.A1317G:p.Q439Q,ENSG00000184939:ENST00000570495:exon5:c.A1317G:p.Q439Q NA NA 16q22.1 NA Name=SETDB1,ZNF274 NA NA rs1177648 0.55 0.55 0.527 0.528754 0.5676 0.7659 0.6167 0.1884 0.6421 0.6 0.78 0.59 0.17 0.5975 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.452763 NA NA 0.596319 0.260359 NA 0.478 NA 4.9052476 1162 2 111725811 111725811 A G intronic ACOXL NA NA NA ncRNA_exonic ENSG00000236330 NA NA NA Score=803;Name=lod=2438 NA 2q13 NA NA NA NA rs13432362 0.38 0.38 0.315 0.33766 0.4284 0.3413 0.562 0.1399 0.3487 0.42 0.38 0.55 0.17 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160967 NA NA NA NA NA 0.377 NA 4.9049333 1162 22 35806616 35806616 T C intronic MCM5 NA NA NA intronic ENSG00000100297 NA NA NA NA NA 22q12.3 NA Name=Pol2,Pol2-4H8,TCF12 NA NA rs4645776 0.03 0.03 0.032 0.0251597 0.0457 0.004 0.0216 0.0295 0.0225 0.05 0.01 0.02 0.03 0.0494 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67301 NA NA NA NA NA 0.014 NA 4.9049 1162 17 18855611 18855611 T C exonic SLC5A10 NA synonymous SNV SLC5A10:NM_001042450:exon1:c.T93C:p.N31N,SLC5A10:NM_001270648:exon1:c.T93C:p.N31N,SLC5A10:NM_001270649:exon1:c.T93C:p.N31N,SLC5A10:NM_152351:exon1:c.T93C:p.N31N exonic ENSG00000154025 NA synonymous SNV ENSG00000154025:ENST00000395643:exon1:c.T93C:p.N31N,ENSG00000154025:ENST00000395645:exon1:c.T93C:p.N31N,ENSG00000154025:ENST00000395647:exon1:c.T93C:p.N31N,ENSG00000154025:ENST00000417251:exon1:c.T93C:p.N31N Score=433;Name=lod=77 NA 17p11.2 NA NA NA NA rs2076562 0.39 0.39 0.399 0.372404 0.6173 0.2331 0.513 0.1687 0.4397 0.62 0.23 0.51 0.15 0.5289 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.970508 1.970508 0 0.615845 0.240647 ID=COSM1630073;OCCURENCE=1(liver) 0.507 NA 4.9046216 1162 4 69651804 69651804 A T intergenic UGT2B15,UGT2B10 dist=115310;dist=29909 NA NA ncRNA_exonic ENSG00000250376 NA NA NA Score=414;Name=lod=64 NA 4q13.2 NA NA NA NA rs72848067 0.12 0.12 0.112 0.104233 0.0954 0.1855 0.0793 0.0915 0.0644 0.11 0.19 0.09 0.09 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273837 NA NA NA NA NA 0.181 NA 4.9046 1162 6 29961367 29961367 G A intergenic HCG9,ZNRD1-AS1 dist=15190;dist=7421 NA NA ncRNA_exonic ENSG00000238024 NA NA NA Score=460;Name=lod=99 NA 6p22.1 NA NA NA NA rs9260967 0.19 0.19 0.198 0.192292 0.0954 0.1905 0.1744 0.3011 0.1595 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547371 NA NA NA NA NA 0.167 NA 4.9046 1162 9 4604171 4604171 G C intronic SPATA6L NA NA NA intronic ENSG00000106686 NA NA NA NA NA 9p24.1 Score=833;Name=V$E4BP4_01 NA NA NA rs16921597 0.06 0.06 0.048 0.0603035 0.0258 0.0159 0.0908 0.1044 0.0603 0.03 0.02 0.09 0.12 0.0404 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457244 NA NA 0.029318 0.088061 NA 0.101 NA 4.904482 1162 1 214531239 214531239 C T UTR3 PTPN14 NM_005401:c.*26G>A NA NA UTR3 ENSG00000152104 ENST00000366956:c.*26G>A NA NA NA NA 1q41 Score=801;Name=V$HEN1_02 NA NA NA rs2291831 0.16 0.16 0.152 0.150958 0.1421 0.1647 0.134 0.1853 0.1115 0.14 0.17 0.16 0.17 0.1447 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.945503 1.945503 NA 0.142442 0.193146 ID=COSN163437;OCCURENCE=1(breast) 0.123 NA 4.9040914 1162 20 25281398 25281398 C T UTR3 ABHD12 NM_001042472:c.*83G>A NA NA UTR3 ENSG00000100997 ENST00000465694:c.*83G>A,ENST00000339157:c.*83G>A NA NA NA NA 20p11.21 NA Name=Pol2 NA NA rs2424708 0.49 0.49 0.475 0.451677 0.4294 0.9077 0.3156 0.1755 0.4744 0.43 0.92 0.32 0.21 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067837 NA NA NA NA NA 0.37 NA 4.9039334 1162 16 70030103 70030103 G A ncRNA_exonic PDXDC2P NA NA NA ncRNA_exonic ENSG00000196696 NA NA NA NA NA 16q22.1 NA NA Name=8 NA rs62051315 0.23 0.23 0.162 0.185903 0.4046 0.0843 0.3242 0.0234 0.1871 0.41 0.1 0.34 0.02 0.3582 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494232 NA NA NA NA NA 0.022 NA 4.9038666 1162 12 114400007 114400007 A C intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA Name=2 NA rs117435297 0.08 0.08 0.064 0.077476 0.0268 0.1131 0.2421 0.0461 0.0184 0.03 0.13 0.19 0.03 0.0496 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346398 NA NA 0.019884 0.034498 NA 0.029 NA 4.903716 1162 4 113377952 113377952 A G intergenic ALPK1,NEUROG2 dist=14188;dist=56720 NA NA ncRNA_exonic ENSG00000248697 NA NA NA Score=682;Name=lod=789 NA 4q25 NA NA NA NA rs2074382 0.19 0.19 0.148 0.197484 0.0964 0.4077 0.0951 0.1286 0.2505 0.09 0.39 0.12 0.14 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92154 NA NA NA NA NA 0.167 NA 4.9036 1162 5 123556673 123556673 T G intergenic CSNK1G3,ZNF608 dist=603935;dist=415937 NA NA ncRNA_exonic ENSG00000250862 NA NA NA Score=727;Name=lod=1199 NA 5q23.2 NA NA NA NA rs55794487 0.19 0.19 0.194 0.21246 0.0964 0.3819 0.1599 0.1611 0.2638 0.09 0.38 0.15 0.16 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872423 NA NA NA NA NA 0.275 NA 4.9036 1162 5 123556732 123556732 G A intergenic CSNK1G3,ZNF608 dist=603994;dist=415878 NA NA ncRNA_exonic ENSG00000250862 NA NA NA Score=727;Name=lod=1199 NA 5q23.2 NA NA NA NA rs17151423 0.18 0.18 0.18 0.196486 0.0964 0.381 0.1542 0.1029 0.2658 0.09 0.38 0.15 0.12 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375762 NA NA NA NA NA 0.261 NA 4.9036 1162 9 123583192 123583192 A G exonic PSMD5 NA synonymous SNV PSMD5:NM_001270427:exon8:c.T1053C:p.D351D,PSMD5:NM_005047:exon9:c.T1182C:p.D394D exonic ENSG00000095261 NA synonymous SNV ENSG00000095261:ENST00000604848:exon2:c.T153C:p.D51D,ENSG00000095261:ENST00000373920:exon3:c.T201C:p.D67D,ENSG00000095261:ENST00000373904:exon8:c.T1053C:p.D351D,ENSG00000095261:ENST00000210313:exon9:c.T1182C:p.D394D Score=343;Name=lod=33 NA 9q33.2 NA NA NA NA rs1060817 0.48 0.48 0.438 0.488419 0.5895 0.4673 0.6571 0.1626 0.727 0.59 0.46 0.63 0.22 0.5794 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112383 NA NA 0.594535 0.230822 NA 0.5 NA 4.9032316 1162 5 150425467 150425467 G A exonic TNIP1 NA synonymous SNV TNIP1:NM_001252386:exon8:c.C732T:p.G244G,TNIP1:NM_001258455:exon8:c.C891T:p.G297G,TNIP1:NM_001258456:exon8:c.C891T:p.G297G,TNIP1:NM_001252385:exon9:c.C891T:p.G297G,TNIP1:NM_001252390:exon9:c.C891T:p.G297G,TNIP1:NM_001252391:exon9:c.C891T:p.G297G,TNIP1:NM_001252392:exon9:c.C891T:p.G297G,TNIP1:NM_001252393:exon9:c.C891T:p.G297G,TNIP1:NM_001258454:exon9:c.C891T:p.G297G,TNIP1:NM_006058:exon9:c.C891T:p.G297G exonic ENSG00000145901 NA synonymous SNV ENSG00000145901:ENST00000519339:exon7:c.C732T:p.G244G,ENSG00000145901:ENST00000520931:exon8:c.C732T:p.G244G,ENSG00000145901:ENST00000522100:exon8:c.C732T:p.G244G,ENSG00000145901:ENST00000523200:exon8:c.C891T:p.G297G,ENSG00000145901:ENST00000524280:exon8:c.C891T:p.G297G,ENSG00000145901:ENST00000315050:exon9:c.C891T:p.G297G,ENSG00000145901:ENST00000389378:exon9:c.C891T:p.G297G,ENSG00000145901:ENST00000518977:exon9:c.C891T:p.G297G,ENSG00000145901:ENST00000521591:exon9:c.C891T:p.G297G,ENSG00000145901:ENST00000522226:exon9:c.C891T:p.G297G,ENSG00000145901:ENST00000523338:exon9:c.C891T:p.G297G NA NA 5q33.1 NA NA NA NA rs2233299 0.17 0.17 0.17 0.13119 0.2803 0.0625 0.1758 0.0673 0.1033 0.28 0.07 0.19 0.09 0.2075 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.008455 2.008455 NA 0.276047 0.110077 NA 0.08 NA 4.9028196 1162 20 33470694 33470694 C T exonic ACSS2 NA synonymous SNV ACSS2:NM_001076552:exon2:c.C276T:p.F92F,ACSS2:NM_018677:exon2:c.C276T:p.F92F exonic ENSG00000131069 NA synonymous SNV ENSG00000131069:ENST00000253382:exon2:c.C276T:p.F92F,ENSG00000131069:ENST00000336325:exon2:c.C126T:p.F42F,ENSG00000131069:ENST00000360596:exon2:c.C276T:p.F92F,ENSG00000131069:ENST00000473172:exon2:c.C276T:p.F92F,ENSG00000131069:ENST00000475459:exon2:c.C126T:p.F42F,ENSG00000131069:ENST00000477932:exon2:c.C276T:p.F92F,ENSG00000131069:ENST00000480978:exon2:c.C276T:p.F92F,ENSG00000131069:ENST00000484354:exon2:c.C252T:p.F84F,ENSG00000131069:ENST00000488172:exon2:c.C126T:p.F42F,ENSG00000131069:ENST00000493805:exon2:c.C276T:p.F92F Score=723;Name=lod=1159 NA 20q11.22 NA NA NA NA rs4911163 0.47 0.47 0.477 0.512181 0.5706 0.4355 0.3516 0.4304 0.7556 0.59 0.42 0.41 0.4 0.5762 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.035752 NA NA 0.617093 0.465275 NA 0.601 NA 4.9027736 1162 1 158985652 158985652 T C intronic IFI16 NA NA NA UTR5 ENSG00000163565 ENST00000474473:c.-764T>C,ENST00000567661:c.-764T>C NA NA NA NA 1q23.1 NA Name=PAX5-N19,Pol2,Pol2(b) NA NA rs4262539 0.07 0.07 0.072 0.0710863 0.0895 NA 0.0764 0.1135 0.0644 0.09 NA 0.08 0.13 0.0834 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434778 NA NA 0.091163 0.106219 NA 0.174 NA 4.9026037 1162 10 98510351 98510351 A T intergenic PIK3AP1,LCOR dist=30072;dist=81666 NA NA ncRNA_exonic ENSG00000236552 NA NA NA Score=592;Name=lod=340 NA 10q24.1 NA NA NA NA rs3789959 0.1 0.1 0.078 0.0904553 0.0974 0.1885 0.0821 0.0076 0.1002 0.09 0.19 0.07 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993567 NA NA NA NA NA 0.087 NA 4.9026 1162 17 72368550 72368550 T C exonic GPR142 NA synonymous SNV GPR142:NM_181790:exon4:c.T1200C:p.N400N exonic ENSG00000257008 NA synonymous SNV ENSG00000257008:ENST00000335666:exon4:c.T1200C:p.N400N Score=594;Name=lod=346 NA 17q25.1 NA NA NA NA rs11658891 0.57 0.57 0.576 0.595647 0.5845 0.4067 0.4827 0.77 0.6462 0.59 0.41 0.52 0.77 0.5901 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405969 NA NA 0.589767 0.741035 NA 0.601 NA 4.9022996 1162 19 23542697 23542697 G C exonic ZNF91 NA synonymous SNV ZNF91:NM_003430:exon4:c.C3084G:p.G1028G exonic ENSG00000167232 NA synonymous SNV ENSG00000167232:ENST00000397082:exon3:c.C2988G:p.G996G,ENSG00000167232:ENST00000300619:exon4:c.C3084G:p.G1028G Score=317;Name=lod=26 NA 19p12 NA NA NA NA rs1821845 0.43 0.43 0.404 0.434305 0.6193 0.1855 0.5101 0.3956 0.499 0.62 0.18 0.53 0.37 0.541 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377122 NA NA 0.604215 0.425057 NA 0.5 NA 4.9021516 1162 6 41634766 41634766 T C intergenic MDFI,TFEB dist=12784;dist=16950 NA NA ncRNA_exonic ENSG00000230913 NA NA NA Score=510;Name=lod=158 NA 6p21.1 NA NA NA NA rs112506759 0.08 0.08 0.074 0.0706869 0.0984 NA 0.0749 0.1309 0.0307 0.1 NA 0.09 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.04529 2.04529 NA NA NA NA 0.072 NA 4.9016 1162 9 92995368 92995368 C A intergenic LOC286370,LOC340515 dist=191587;dist=229346 NA NA ncRNA_exonic ENSG00000225072 NA NA NA NA NA 9q22.2 NA NA Name=13 NA rs56125584 0.06 0.06 0.058 0.102037 0.0984 0.0823 0.0432 0.0045 0.2996 0.1 0.08 0.04 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634373 NA NA NA NA NA 0.08 NA 4.9016 1162 10 121429256 121429256 A G intronic BAG3 NA NA NA intronic ENSG00000151929 NA NA NA NA NA 10q26.11 Score=868;Name=V$ATF6_01 NA NA NA rs2240777 0.18 0.18 0.16 0.185304 0.0984 0.2609 0.1801 0.27 0.0859 0.09 0.26 0.14 0.26 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512829 NA NA NA NA NA 0.225 NA 4.9016 1162 14 31290663 31290663 G A intergenic SCFD1,COCH dist=85630;dist=53078 NA NA ncRNA_exonic ENSG00000213867 NA NA NA Score=730;Name=lod=1230 NA 14q12 NA NA NA NA rs8004725 0.18 0.18 0.174 0.208866 0.0984 0.374 0.0634 0.1725 0.3047 0.09 0.38 0.08 0.16 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340011 NA 0.02 NA NA NA 0.21 NA 4.9016 1162 15 101098922 101098922 T C ncRNA_exonic PRKXP1 NA NA NA ncRNA_exonic ENSG00000259205,ENSG00000259540 NA NA NA Score=571;Name=lod=278 NA 15q26.3 NA NA NA NA rs9920217 0.76 0.76 0.761 0.750399 0.7654 0.5784 0.8285 0.8472 0.726 0.78 0.58 0.84 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164661 NA NA NA NA NA 0.754 NA 4.9012666 1162 16 19557267 19557267 C T intronic CCP110 NA NA NA intronic ENSG00000103540 NA NA NA NA NA 16p12.3 Score=810;Name=V$CART1_01 NA NA NA rs2301688 0.16 0.16 0.13 0.146166 0.0537 0.3512 0.2363 0.0454 0.1022 0.05 0.35 0.19 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868999 NA NA 0.045054 0.060694 NA 0.109 NA 4.901246 1162 15 101717680 101717680 G T exonic CHSY1 NA synonymous SNV CHSY1:NM_014918:exon3:c.C2322A:p.T774T exonic ENSG00000131873 NA synonymous SNV ENSG00000131873:ENST00000254190:exon3:c.C2322A:p.T774T NA NA 15q26.3 Score=825;Name=V$AP4_01 NA NA NA rs8024370 0.73 0.73 0.738 0.759784 0.5557 0.8958 0.6412 0.8994 0.7249 0.55 0.91 0.65 0.86 0.6468 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129804 NA NA 0.56314 0.863141 NA 0.797 NA 4.9010266 1162 1 167778843 167778843 G A UTR3 ADCY10 NM_001167749:c.*72C>T,NM_018417:c.*72C>T NA NA UTR3 ENSG00000143199 ENST00000545172:c.*72C>T NA NA NA NA 1q24.2 NA NA Name=5 NA rs3213588 0.45 0.45 0.474 0.471046 0.4324 0.1766 0.379 0.8374 0.3845 0.44 0.17 0.42 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370515 NA NA NA NA NA 0.486 NA 4.9009334 1162 8 7218805 7218805 A G intronic ZNF705G NA NA NA intronic ENSG00000215372 NA NA NA NA NA 8p23.1 NA NA Name=17 NA rs71511225 0.03 0.03 0.022 0.0251597 0.0467 0.0109 0.0447 0.0212 0.0092 0.04 0.01 0.06 0.03 0.0283 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764821 NA NA 0.024214 0.013413 NA 0.036 NA 4.900786 1162 15 40589002 40589002 A G exonic PLCB2 NA synonymous SNV PLCB2:NM_004573:exon14:c.T1431C:p.T477T exonic ENSG00000137841 NA synonymous SNV ENSG00000137841:ENST00000260402:exon14:c.T1431C:p.T477T,ENSG00000137841:ENST00000456256:exon14:c.T1431C:p.T477T,ENSG00000137841:ENST00000557821:exon14:c.T1431C:p.T477T,ENSG00000137841:ENST00000558588:exon14:c.T1431C:p.T477T NA NA 15q15.1 NA NA NA NA rs2229691 0.36 0.36 0.279 0.355232 0.2167 0.6736 0.4755 0.1293 0.3896 0.22 0.7 0.42 0.13 0.3172 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958182 NA NA 0.23216 0.16597 NA 0.261 NA 4.9006066 1162 7 53255748 53255748 A G intergenic POM121L12,FLJ45974 dist=151130;dist=467454 NA NA ncRNA_exonic ENSG00000227344 NA NA NA Score=564;Name=lod=262 NA 7p12.1 NA NA NA NA rs73114782 0.08 0.08 0.052 0.0798722 0.0994 0.004 0.1369 0.0809 0.0961 0.11 0.0017 0.12 0.08 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512665 NA NA NA NA NA 0.08 NA 4.9006 1162 7 53256063 53256063 C T intergenic POM121L12,FLJ45974 dist=151445;dist=467139 NA NA ncRNA_exonic ENSG00000227344 NA NA NA Score=564;Name=lod=262 NA 7p12.1 NA NA NA NA rs11978966 0.09 0.09 0.079 0.0996406 0.0994 0.004 0.1398 0.1543 0.0961 0.11 0.0017 0.12 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596791 NA NA NA NA NA 0.116 NA 4.9006 1162 7 53256518 53256518 T C intergenic POM121L12,FLJ45974 dist=151900;dist=466684 NA NA ncRNA_exonic ENSG00000227344 NA NA NA Score=355;Name=lod=37 NA 7p12.1 NA NA NA NA rs111770589 0.08 0.08 0.054 0.0798722 0.0994 0.004 0.1369 0.0809 0.0961 0.11 0.0017 0.12 0.08 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537471 NA NA NA NA NA 0.08 NA 4.9006 1162 7 138441083 138441083 A C intronic ATP6V0A4 NA NA NA intronic ENSG00000105929 NA NA NA NA NA 7q34 NA NA Name=20 NA rs11764089 0.05 0.05 0.036 0.043131 0.0994 0.001 0.0288 0.0061 0.089 0.11 NA 0.03 0.0041 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928084 NA NA NA NA NA 0.007 NA 4.9006 1162 10 93426604 93426604 T C intergenic PPP1R3C,TNKS2 dist=33746;dist=131547 NA NA ncRNA_exonic ENSG00000213449 NA NA NA Score=652;Name=lod=594 NA 10q23.32 NA NA NA NA rs61876134 0.06 0.06 0.046 0.0593051 0.0994 0.0099 0.062 0.0651 0.0593 0.09 0.01 0.06 0.08 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759303 NA NA NA NA NA 0.022 NA 4.9006 1162 10 93427398 93427398 G A intergenic PPP1R3C,TNKS2 dist=34540;dist=130753 NA NA ncRNA_exonic ENSG00000213449 NA NA NA Score=681;Name=lod=778 NA 10q23.32 NA NA NA NA rs61876136 0.06 0.06 0.057 0.0593051 0.0994 0.0099 0.062 0.0651 0.0593 0.09 0.01 0.06 0.08 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590622 NA NA NA NA NA 0.022 NA 4.9006 1162 12 78388720 78388720 C T intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA Score=431;Name=lod=75 NA 12q21.2 NA NA NA NA rs1677884 0.14 0.14 0.13 0.127995 0.0994 0.3155 0.0951 0.0166 0.138 0.1 0.32 0.1 0.02 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376266 1.376266 NA NA NA NA 0.254 NA 4.9006 1162 11 100226962 100226962 C T UTR3 CNTN5 NM_001243270:c.*11C>T,NM_014361:c.*11C>T,NM_175566:c.*11C>T NA NA UTR3 ENSG00000149972 ENST00000524871:c.*11C>T,ENST00000528682:c.*11C>T,ENST00000418526:c.*11C>T NA NA NA NA 11q22.1 NA NA Name=6 NA rs1216182 0.22 0.22 0.219 0.23143 0.1153 0.3224 0.2637 0.1967 0.2812 0.12 0.34 0.24 0.22 0.2154 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088343 NA NA 0.102169 0.171915 NA 0.217 NA 4.9004644 1162 1 228412227 228412227 T C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon9:c.T2721C:p.S907S,OBSCN:NM_052843:exon9:c.T2721C:p.S907S,OBSCN:NM_001271223:exon10:c.T2997C:p.S999S exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon9:c.T2721C:p.S907S,ENSG00000154358:ENST00000422127:exon9:c.T2721C:p.S907S,ENSG00000154358:ENST00000570156:exon10:c.T2997C:p.S999S NA NA 1q42.13 NA NA NA NA rs1771480 0.39 0.39 NA 0.41254 0.3668 0.3849 0.402 0.5885 0.2577 0.31 0.36 0.38 0.56 0.4 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801945 NA NA NA NA NA 0.116 NA 4.8998666 1162 9 131476649 131476649 G A intronic PKN3 NA NA NA intronic ENSG00000160447 NA NA NA Score=363;Name=lod=40 NA 9q34.11 NA NA NA NA rs41275914 0.02 0.02 0.013 0.0127796 0.0388 NA 0.0259 0.0023 0.0041 0.04 NA 0.03 0.0041 0.0246 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858566 NA NA 0.036744 0.005447 NA 0.043 NA 4.899856 1162 22 36694954 36694954 C G intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA NA NA rs41279999 0.05 0.05 0.026 0.052516 0.0328 0.1131 0.0245 0.0151 0.0808 0.04 0.1 0.03 0.01 0.0392 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331299 NA NA 0.028256 0.022015 NA 0.043 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037553.1;CLNDSDB=.;CLNDSDBID=. 4.899744 1162 16 23536531 23536531 C T intronic EARS2 NA NA NA exonic ENSG00000103356 NA nonsynonymous SNV ENSG00000103356:ENST00000563232:exon8:c.G1522A:p.E508K NA NA 16p12.2 NA NA NA NA rs75133940 0.05 0.05 0.039 0.029353 0.1014 0.001 0.0418 0.003 0.0112 0.11 0.0017 0.05 0.0041 0.0696 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.599627 2.599627 0.19 0.095996 0.015393 NA 0.036 NA 4.8996707 1162 2 64893194 64893194 A T intergenic SERTAD2,LOC400958 dist=12148;dist=235780 NA NA ncRNA_exonic ENSG00000227791 NA NA NA Score=578;Name=lod=299 NA 2p14 NA NA NA NA rs116311582 0.06 0.06 0.056 0.0700879 0.1004 0.0337 0.0735 0.003 0.1646 0.12 0.03 0.07 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268659 NA NA NA NA NA 0.029 NA 4.8996 1162 3 170670753 170670753 C T intergenic EIF5A2,SLC2A2 dist=44327;dist=43384 NA NA ncRNA_exonic ENSG00000240704 NA NA NA Score=684;Name=lod=803 NA 3q26.2 NA NA NA NA rs67125861 0.08 0.08 0.087 0.0826677 0.1004 0.001 0.0908 0.1483 0.0542 0.1 NA 0.1 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242767 NA NA NA NA NA 0.217 NA 4.8996 1162 3 170671389 170671389 C T intergenic EIF5A2,SLC2A2 dist=44963;dist=42748 NA NA ncRNA_exonic ENSG00000240704 NA NA NA Score=546;Name=lod=221 NA 3q26.2 NA NA NA NA rs58649226 0.09 0.09 0.078 0.0896565 0.1004 0.001 0.0937 0.1732 0.0542 0.1 NA 0.1 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867101 NA NA NA NA NA 0.232 NA 4.8996 1162 19 22654910 22654910 C T intergenic ZNF98,LOC440518 dist=49762;dist=124149 NA NA ncRNA_exonic ENSG00000269138 NA NA NA Score=300;Name=lod=22 NA 19p12 NA NA NA NA rs73924019 0.08 0.08 0.066 0.0964457 0.1004 0.119 0.0764 0.0477 0.1493 0.09 0.09 0.1 0.05 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283089 NA NA NA NA NA 0.022 NA 4.8996 1162 22 32666596 32666596 G A intergenic SLC5A4,RFPL3 dist=15278;dist=84276 NA NA ncRNA_exonic ENSG00000214076 NA NA NA Score=667;Name=lod=688 NA 22q12.3 NA NA NA NA rs73164068 0.15 0.15 0.155 0.146565 0.1004 0.3353 0.1037 0.0083 0.2168 0.1 0.36 0.11 0.01 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358216 NA NA NA NA NA 0.167 NA 4.8996 1162 2 202173812 202173812 C A intronic ALS2CR12 NA NA NA intronic ENSG00000155749 NA NA NA NA NA 2q33.1 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs16837131 0.1 0.1 0.098 0.106829 0.1004 0.0079 0.0764 0.233 0.0665 0.1 0.0017 0.08 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831552 NA NA NA NA NA 0.116 NA 4.8996 1162 8 69730488 69730488 G C UTR3 C8orf34 NM_052958:c.*7G>C NA NA UTR3 ENSG00000165084 ENST00000539993:c.*7G>C,ENST00000518698:c.*7G>C,ENST00000337103:c.*7G>C,ENST00000521406:c.*757G>C NA NA Score=358;Name=lod=38 NA 8q13.2 NA NA NA NA rs16935109 0.19 0.19 0.195 0.21845 0.1282 0.4276 0.1311 0.1225 0.2873 0.12 0.41 0.11 0.11 0.1744 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340768 1.340768 NA 0.131279 0.13005 ID=COSN168341;OCCURENCE=1(large_intestine) 0.138 NA 4.8994544 1162 11 113133676 113133676 T G UTR3 NCAM1 NM_001242608:c.*29T>G,NM_001076682:c.*29T>G NA NA UTR3 ENSG00000149294 ENST00000533760:c.*29T>G,ENST00000534015:c.*29T>G,ENST00000531817:c.*586T>G NA NA NA NA 11q23.2 Score=810;Name=V$PPARG_03 NA NA NA rs2288158 0.16 0.16 0.152 0.158546 0.1153 0.2996 0.1066 0.093 0.183 0.12 0.3 0.12 0.07 0.1765 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.635457 2.635457 NA 0.142092 0.10298 NA 0.145 NA 4.8994414 1162 2 15747393 15747393 C T exonic DDX1 NA synonymous SNV DDX1:NM_004939:exon13:c.C912T:p.N304N exonic ENSG00000079785 NA synonymous SNV ENSG00000079785:ENST00000233084:exon13:c.C912T:p.N304N,ENSG00000079785:ENST00000381341:exon14:c.C912T:p.N304N Score=549;Name=lod=228 NA 2p24.3 NA NA NA NA rs10929378 0.71 0.71 0.744 0.744808 0.5497 0.869 0.6196 0.8389 0.7791 0.55 0.88 0.61 0.84 0.6428 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146107 NA NA 0.574884 0.808897 NA 0.71 NA 4.8992826 1162 17 56294141 56294141 C T intronic MKS1 NA NA NA intronic ENSG00000011143 NA NA NA NA NA 17q22 NA NA NA NA rs73329636 0.06 0.06 0.064 0.0603035 0.0298 0.0069 0.036 0.174 0.0102 0.03 0.01 0.05 0.17 0.0407 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362245 NA NA 0.030696 0.142185 NA 0.072 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114213.2;CLNDSDB=.;CLNDSDBID=. 4.898804 1162 1 6147407 6147407 C T intronic KCNAB2 NA NA NA intronic ENSG00000069424 NA NA NA NA NA 1p36.31 NA Name=USF-1 NA NA rs4908763 0.13 0.13 0.114 0.149361 0.1014 0.0893 0.1383 0.2489 0.1339 0.11 0.07 0.15 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747612 NA NA NA NA NA 0.196 NA 4.8986 1162 1 196920148 196920148 C T exonic CFHR2 NA synonymous SNV CFHR2:NM_005666:exon3:c.C420T:p.C140C exonic ENSG00000080910 NA synonymous SNV ENSG00000080910:ENST00000367415:exon3:c.C420T:p.C140C,ENSG00000080910:ENST00000367421:exon3:c.C420T:p.C140C NA NA 1q31.3 NA NA NA NA rs4085749 0.33 0.33 0.274 0.32488 0.2505 0.7024 0.464 0.0272 0.316 0.24 0.68 0.38 0.03 0.2962 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208393 NA NA 0.221395 0.070586 NA 0.225 NA 4.8985716 1162 1 221058059 221058059 C T UTR3 HLX NM_021958:c.*13C>T NA NA UTR3 ENSG00000136630 ENST00000366903:c.*13C>T,ENST00000549319:c.*13C>T NA NA NA NA 1q41 NA Name=SUZ12 NA NA rs2738756 0.13 0.13 0.135 0.111821 0.162 0.001 0.111 0.2103 0.0419 0.16 NA 0.12 0.23 0.1327 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513925 NA NA 0.140959 0.177594 NA 0.13 NA 4.8976744 1162 1 192216500 192216500 C A intergenic RGS18,RGS21 dist=61555;dist=69622 NA NA ncRNA_exonic ENSG00000226723 NA NA NA Score=837;Name=lod=3357 NA 1q31.2 NA NA NA NA rs1175146 0.09 0.09 0.075 0.0824681 0.1024 NA 0.0663 0.1641 0.0481 0.11 NA 0.08 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043155 NA NA NA NA NA 0.123 NA 4.8976 1162 19 40449191 40449191 T C intergenic FCGBP,PSMC4 dist=8658;dist=27721 NA NA ncRNA_exonic ENSG00000187534 NA NA NA Score=483;Name=lod=122 NA 19q13.2 NA NA NA NA rs3826919 0.23 0.23 0.244 0.251597 0.1024 0.2381 0.1009 0.4879 0.2065 0.09 0.26 0.13 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320119 NA NA NA NA NA 0.362 NA 4.8976 1162 21 38444890 38444890 A G UTR5 PIGP NM_153681:c.-3T>C NA NA UTR5 ENSG00000185808 ENST00000464265:c.-3T>C,ENST00000430792:c.-442T>C NA NA NA NA 21q22.13 NA Name=TBP,CCNT2,AP-2gamma,HA-E2F1,E2F1,Pol2-4H8,Egr-1,Ini1,YY1,YY1_(C-20),E2F6,Pol2,HMGN3,E2F6_(H-50),TAF1 Name=136 NA rs2298682 0.39 0.39 0.374 0.375 0.495 0.381 0.3458 0.2882 0.3834 0.5 0.36 0.36 0.29 0.438 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.929712 1.929712 NA 0.50314 0.300499 NA 0.304 NA 4.8971934 1162 10 99126249 99126249 G A exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon26:c.C3162T:p.D1054D,RRP12:NM_015179:exon28:c.C3345T:p.D1115D exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon22:c.C2499T:p.D833D,ENSG00000052749:ENST00000315563:exon25:c.C3045T:p.D1015D,ENSG00000052749:ENST00000414986:exon26:c.C3162T:p.D1054D,ENSG00000052749:ENST00000370992:exon28:c.C3345T:p.D1115D NA NA 10q24.1 NA NA NA NA rs2275581 0.25 0.25 0.268 0.272963 0.2584 0.3095 0.2622 0.1815 0.3814 0.25 0.28 0.26 0.18 0.2608 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766877 NA NA 0.250349 0.182705 NA 0.21 NA 4.8971176 1162 2 69304719 69304719 T C intronic ANTXR1 NA NA NA intronic ENSG00000169604 NA NA NA NA NA 2p13.3 NA NA Name=11 NA rs7424907 0.13 0.13 0.138 0.157548 0.1034 0.2312 0.0836 0.1785 0.1616 0.1 0.17 0.08 0.16 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65473 NA NA NA NA NA 0.087 NA 4.8966 1162 4 187557600 187557600 G A intronic FAT1 NA NA NA intronic ENSG00000083857 NA NA NA NA NA 4q35.2 NA NA Name=7 NA rs328419 0.12 0.12 0.136 0.114816 0.1034 0.0645 0.0994 0.2042 0.0685 0.11 0.08 0.1 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30079 NA NA NA NA NA 0.159 NA 4.8966 1162 9 19096832 19096832 A T intronic HAUS6 NA NA NA intronic ENSG00000147874 NA NA NA NA NA 9p22.1 NA NA Name=4 NA rs4977495 0.12 0.12 0.105 0.114417 0.1034 0.0764 0.2075 0.0855 0.138 0.11 0.09 0.19 0.1 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759972 NA NA NA NA ID=COSN168480;OCCURENCE=2(large_intestine) 0.181 NA 4.8966 1162 19 50222914 50222914 G A intergenic CPT1C,TSKS dist=5926;dist=20097 NA NA ncRNA_exonic ENSG00000243829 NA NA NA Score=770;Name=lod=1803 NA 19q13.33 NA NA NA NA rs3810261 0.2 0.2 0.199 0.213458 0.1034 0.2897 0.2378 0.2368 0.1994 0.11 0.28 0.2 0.27 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288393 NA NA NA NA NA 0.188 NA 4.8966 1162 7 11676377 11676377 G A exonic THSD7A NA synonymous SNV THSD7A:NM_015204:exon2:c.C402T:p.P134P exonic ENSG00000005108 NA synonymous SNV ENSG00000005108:ENST00000423059:exon2:c.C402T:p.P134P NA NA 7p21.3 NA NA NA NA rs2074598 0.25 0.25 0.264 0.266573 0.2535 0.2837 0.33 0.1649 0.3548 0.26 0.27 0.29 0.21 0.262 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447502 NA NA 0.254703 0.145361 NA 0.188 NA 4.8964636 1162 15 90335534 90335534 G A exonic ANPEP NA synonymous SNV ANPEP:NM_001150:exon18:c.C2385T:p.T795T exonic ENSG00000166825 NA synonymous SNV ENSG00000166825:ENST00000300060:exon18:c.C2385T:p.T795T NA NA 15q26.1 NA NA NA NA rs25652 0.23 0.23 0.221 0.252196 0.2584 0.1766 0.2075 0.27 0.3313 0.26 0.19 0.2 0.24 0.2457 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373588 NA NA 0.266108 0.254545 NA 0.29 NA 4.8964586 1162 14 35408648 35408648 A G upstream IGBP1P1 NA NA NA ncRNA_exonic ENSG00000226677 NA NA NA Score=272;Name=lod=17 NA 14q13.2 NA NA NA NA rs28373355 0.31 0.31 0.277 0.305112 0.2704 0.37 0.2824 0.2837 0.319 0.28 0.38 0.25 0.32 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032622 NA NA NA NA NA 0.254 NA 4.8962666 1162 15 58004423 58004423 G A intronic GCOM1,POLR2M NA NA NA intronic ENSG00000137878,ENSG00000255529 NA NA NA NA NA 15q21.3 Score=839;Name=V$FAC1_01 NA NA NA rs117810557 0.02 0.02 0.017 0.0115815 0.0398 NA 0.0159 0.0008 0.0061 0.04 NA 0.01 0.002 0.0299 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456487 NA NA 0.034189 0.007094 NA 0.022 NA 4.896111 1162 5 67569746 67569746 G A intronic PIK3R1 NA NA NA intronic ENSG00000145675 NA NA NA NA NA 5q13.1 NA Name=POU2F2,Pol2-4H8,Pol2,Oct-2,TBP,p300 Name=21 NA rs171649 0.3 0.3 0.263 0.28734 0.3748 0.3621 0.4207 0.0272 0.3773 0.39 0.39 0.36 0.04 0.3622 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109297 NA NA 0.366977 0.07921 NA 0.312 NA 4.896023 1162 12 30868002 30868002 C T exonic CAPRIN2 NA synonymous SNV CAPRIN2:NM_001206856:exon14:c.G2373A:p.V791V,CAPRIN2:NM_023925:exon14:c.G2391A:p.V797V,CAPRIN2:NM_001002259:exon15:c.G2541A:p.V847V,CAPRIN2:NM_032156:exon15:c.G2538A:p.V846V exonic ENSG00000110888 NA synonymous SNV ENSG00000110888:ENST00000433722:exon12:c.G1776A:p.V592V,ENSG00000110888:ENST00000298892:exon14:c.G2391A:p.V797V,ENSG00000110888:ENST00000308433:exon14:c.G1539A:p.V513V,ENSG00000110888:ENST00000395805:exon14:c.G2373A:p.V791V,ENSG00000110888:ENST00000251071:exon15:c.G2541A:p.V847V,ENSG00000110888:ENST00000417045:exon15:c.G2538A:p.V846V Score=597;Name=lod=356 NA 12p11.21 NA NA NA NA rs13656 0.57 0.57 0.598 0.596046 0.5905 0.4633 0.3818 0.8729 0.5164 0.59 0.46 0.38 0.82 0.58 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212891 NA NA 0.600233 0.825465 NA 0.543 NA 4.8959336 1162 5 16902701 16902701 T A intronic MYO10 NA NA NA ncRNA_exonic ENSG00000243538 NA NA NA Score=721;Name=lod=1136 NA 5p15.1 NA NA NA NA rs2562358 0.49 0.49 0.397 0.472444 0.4374 0.5308 0.6254 0.4629 0.3528 0.44 0.53 0.57 0.45 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212943 NA NA NA NA NA 0.297 NA 4.8959333 1162 13 52585548 52585548 G T UTR5 ATP7B NM_000053:c.-75C>A,NM_001243182:c.-75C>A,NM_001005918:c.-75C>A NA NA UTR5 ENSG00000123191 ENST00000242839:c.-75C>A,ENST00000344297:c.-75C>A,ENST00000400366:c.-75C>A NA NA NA NA 13q14.3 NA Name=CTCF,Pol2,USF-1,HEY1 Name=15 NA rs2277448 0.56 0.56 0.518 0.516773 0.7227 0.5952 0.6427 0.2239 0.5307 0.71 0.58 0.68 0.22 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965822 NA NA 0.714959 0.319364 NA 0.536 NA 4.8956744 1162 7 47977302 47977302 C T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA Name=EBF1_(C-8) NA NA rs80325961 0.05 0.05 0.041 0.033746 0.1044 NA 0.0432 0.0038 0.0297 0.1 NA 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.905524 NA NA NA NA NA 0.116 NA 4.8956 1162 15 91428188 91428188 A G intronic FES NA NA NA intronic ENSG00000182511 NA NA NA NA NA 15q26.1 NA NA Name=9 NA rs76642265 0.07 0.07 0.062 0.0700879 0.1044 0.003 0.0519 0.1029 0.0726 0.11 NA 0.05 0.09 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624459 NA NA NA NA NA 0.065 NA 4.8956 1162 5 176024880 176024880 C T exonic GPRIN1 NA synonymous SNV GPRIN1:NM_052899:exon2:c.G1956A:p.G652G exonic ENSG00000169258 NA synonymous SNV ENSG00000169258:ENST00000303991:exon2:c.G1956A:p.G652G NA NA 5q35.2 NA Name=Rad21,CTCF,CTCF_(SC-5916) Name=5 NA rs4868663 0.85 0.85 0.819 0.827276 0.9304 0.7887 0.8977 0.7398 0.8292 0.93 0.79 0.93 0.73 0.8991 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002493 NA NA 0.941977 0.794598 NA 0.768 NA 4.8951896 1163 7 107341528 107341528 T A intronic SLC26A4 NA NA NA intronic ENSG00000091137 NA NA NA Score=561;Name=lod=253 NA 7q22.3 NA NA NA NA rs55701254 0.02 0.02 0.013 0.0131789 0.0497 NA 0.0101 0.0023 0.0061 0.05 NA 0.01 NA 0.0252 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.211894 3.211894 NA 0.030123 0.006582 NA NA NA 4.894977 1163 7 66409881 66409881 A G intronic TMEM248 NA NA NA intronic ENSG00000106609 NA NA NA NA NA 7q11.21 NA NA Name=3 NA rs35111158 0.12 0.12 0.084 0.133586 0.1054 0.1409 0.2104 0.0567 0.2045 0.1 0.17 0.18 0.04 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623452 NA NA NA NA NA 0.188 NA 4.8946 1163 14 52755385 52755385 C T intergenic PTGDR,PTGER2 dist=11943;dist=25631 NA NA ncRNA_exonic ENSG00000261208 NA NA NA Score=480;Name=lod=119 NA 14q22.1 NA NA NA NA rs17831706 0.09 0.09 0.096 0.113818 0.1054 0.124 0.0591 0.087 0.1871 0.1 0.1 0.06 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.490562 1.490562 NA NA NA NA 0.051 NA 4.8946 1163 15 90347338 90347338 T C intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA Name=13 NA rs41276914 0.08 0.08 0.073 0.0680911 0.1054 0.002 0.0476 0.0915 0.0808 0.11 0.01 0.04 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271994 NA NA NA NA NA 0.13 NA 4.8946 1163 20 56185132 56185132 G A intronic ZBP1 NA NA NA intronic ENSG00000124256 NA NA NA NA NA 20q13.31 NA Name=CTCF NA NA rs742724 0.14 0.14 0.148 0.173522 0.1054 0.1389 0.1354 0.2352 0.2229 0.1 0.11 0.13 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483794 NA NA NA NA NA 0.203 NA 4.8946 1163 22 50719251 50719251 A G exonic PLXNB2 NA synonymous SNV PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P exonic ENSG00000196576 NA synonymous SNV ENSG00000196576:ENST00000359337:exon24:c.T3915C:p.P1305P,ENSG00000196576:ENST00000449103:exon24:c.T3915C:p.P1305P NA NA 22q13.33 Score=805;Name=V$PAX5_01 NA NA NA rs11547734 0.6 0.6 0.56 0.616414 0.5875 0.6111 0.5317 0.6641 0.6472 0.59 0.61 0.51 0.66 0.5969 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254209 NA NA 0.588039 0.644072 NA 0.37 NA 4.8942276 1163 22 43089055 43089055 G C exonic A4GALT NA synonymous SNV A4GALT:NM_017436:exon3:c.C903G:p.P301P exonic ENSG00000128274 NA synonymous SNV ENSG00000128274:ENST00000249005:exon2:c.C903G:p.P301P,ENSG00000128274:ENST00000381278:exon2:c.C903G:p.P301P,ENSG00000128274:ENST00000401850:exon2:c.C903G:p.P301P NA NA 22q13.2 Score=830;Name=V$TAXCREB_01 NA NA NA rs6002904 0.68 0.68 0.686 0.695288 0.5915 0.7063 0.6052 0.8608 0.6309 0.59 0.66 0.64 0.86 0.613 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056255 NA NA 0.568023 0.819709 NA 0.71 NA 4.8941436 1163 1 163208383 163208383 G A intronic RGS5 NA NA NA ncRNA_exonic ENSG00000225755 NA NA NA Score=545;Name=lod=219 NA 1q23.3 NA NA NA NA rs4657254 0.35 0.35 0.354 0.350439 0.4394 0.1905 0.3559 0.4365 0.3037 0.45 0.18 0.35 0.41 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182665 NA NA NA NA NA 0.326 NA 4.8939333 1163 7 65404092 65404092 A T intronic VKORC1L1 NA NA NA intronic ENSG00000196715 NA NA NA Score=650;Name=lod=584 NA 7q11.21 NA NA NA NA rs34560516 0.12 0.12 0.098 0.14357 0.1064 0.1468 0.2133 0.0893 0.2025 0.09 0.18 0.18 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759845 NA NA NA NA NA 0.203 NA 4.8936 1163 16 16025750 16025750 T C intergenic FOPNL,ABCC1 dist=43303;dist=17684 NA NA ncRNA_exonic ENSG00000215003 NA NA NA Score=784;Name=lod=2054 NA 16p13.11 NA NA NA NA rs12924488 0.04 0.04 0.03 0.0335463 0.1064 NA 0.0432 0.0023 0.0286 0.11 NA 0.04 NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.955405 1.955405 0.19 NA NA NA 0.036 NA 4.8936 1163 7 142231625 142231625 C A intergenic LOC730441,MTRNR2L6 dist=259557;dist=142506 NA NA exonic ENSG00000211717 NA stopgain ENSG00000211717:ENST00000390364:exon2:c.G292T:p.E98X NA NA 7q34 NA NA Name=2 NA rs17249 0.28 0.28 0.256 0.248602 0.4384 0.2004 0.33 0.1611 0.1636 0.44 0.15 0.33 0.16 0.3736 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.576573 2.576573 0.02 0.461602 0.217434 NA 0.239 NA 4.8930647 1163 12 15090837 15090837 A G intronic ERP27 NA NA NA intronic ENSG00000139055 NA NA NA NA NA 12p12.3 NA Name=SMC3_(ab9263),CTCF,Rad21,CTCF_(SC-5916),CTCF_(C-20) Name=27 NA rs3748297 0.28 0.28 0.267 0.285743 0.3807 0.125 0.3876 0.2776 0.2924 0.36 0.11 0.39 0.29 0.3334 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914477 NA NA 0.393023 0.289832 ID=COSN164179;OCCURENCE=1(breast) 0.362 NA 4.892877 1163 1 12398413 12398413 T G intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 Score=748;Name=V$MEF2_04 NA NA NA rs76314308 0.06 0.06 0.044 0.0776757 0.0209 0.0198 0.1254 0.143 0.0736 0.03 0.01 0.11 0.13 0.0574 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.641271 1.641271 NA 0.028837 0.115978 NA 0.058 NA 4.892863 1163 3 11915154 11915154 A G intergenic TAMM41,SYN2 dist=26802;dist=130708 NA NA ncRNA_exonic ENSG00000230342 NA NA NA Score=568;Name=lod=271 NA 3p25.2 NA NA NA NA rs3732701 0.17 0.17 0.139 0.147764 0.1074 0.3363 0.1427 0.0802 0.09 0.12 0.32 0.13 0.09 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754794 NA NA NA NA NA 0.145 NA 4.8926 1163 3 87679657 87679657 G A intergenic POU1F1,HTR1F dist=353920;dist=352069 NA NA ncRNA_exonic ENSG00000240255 NA NA NA Score=844;Name=lod=3580 NA 3p11.2 NA NA NA NA rs76214106 0.08 0.08 0.067 0.0714856 0.1074 0.0565 0.072 0.0605 0.0644 0.09 0.04 0.08 0.08 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161085 NA NA NA NA NA 0.029 NA 4.8926 1163 11 77705536 77705536 C A intronic INTS4 NA NA NA intronic ENSG00000149262 NA NA NA NA NA 11q14.1 NA Name=Sin3Ak-20,TCF4,SP1,Pol2,ETS1 NA NA rs2016147 0.19 0.19 0.19 0.183906 0.1074 0.244 0.1715 0.2352 0.1401 0.11 0.28 0.15 0.24 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655985 NA NA NA NA NA 0.203 NA 4.8926 1163 12 43030796 43030796 G A intergenic PRICKLE1,ADAMTS20 dist=47224;dist=717216 NA NA ncRNA_exonic ENSG00000257405 NA NA NA Score=586;Name=lod=322 NA 12q12 NA NA NA NA rs79463838 0.12 0.12 0.112 0.107628 0.1074 0.2272 0.0807 0.0091 0.137 0.1 0.26 0.07 0.02 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218563 NA NA NA NA NA 0.058 NA 4.8926 1163 13 50501980 50501980 G A intronic SPRYD7 NA NA NA intronic ENSG00000123178 NA NA NA NA NA 13q14.2 NA NA Name=75 NA rs11617754 0.27 0.27 0.243 0.326677 0.1074 0.6766 0.2435 0.2209 0.3937 0.11 0.6 0.2 0.2 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.186886 2.186886 NA NA NA NA 0.203 NA 4.8926 1163 19 29282897 29282897 G A intergenic LINC00662,LOC148145 dist=998049;dist=173141 NA NA ncRNA_exonic ENSG00000267799 NA NA NA Score=655;Name=lod=612 NA 19q12 NA NA NA NA rs58334655 0.24 0.24 0.237 0.221645 0.1074 0.4296 0.1974 0.2277 0.1339 0.12 0.44 0.19 0.25 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594786 NA NA NA NA ID=COSN165778;OCCURENCE=1(NS) 0.116 NA 4.8926 1163 19 54734002 54734002 T C intergenic LILRB3,LILRA6 dist=7043;dist=6467 NA NA ncRNA_exonic ENSG00000235081 NA NA NA Score=569;Name=lod=273 NA 19q13.42 NA NA NA NA rs113651912 0.05 0.05 0.037 0.0439297 0.1074 NA 0.1124 0.0045 0.0286 0.1 NA 0.08 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.795715 NA NA NA NA NA 0.043 NA 4.8926 1163 X 1414419 1414419 G A intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA Score=391;Name=lod=52 NA Xp22.33 NA NA NA NA rs28565146 0.14 0.14 0.11129 NA NA NA NA NA NA 0.11 0.18 0.25 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.01865 NA NA 0.10748 0.056358 NA NA NA 4.89252 1163 2 130951581 130951581 A G exonic TUBA3E NA synonymous SNV TUBA3E:NM_207312:exon4:c.T834C:p.A278A exonic ENSG00000152086 NA synonymous SNV ENSG00000152086:ENST00000312988:exon4:c.T834C:p.A278A NA NA 2q21.1 NA NA NA NA rs1052312 0.42 0.42 0.34 0.46885 0.3628 0.4365 0.5014 0.587 0.4284 0.32 0.42 0.46 0.56 0.4116 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590021 NA NA NA NA NA 0.449 NA 4.8922666 1163 12 4461485 4461485 G A exonic C12orf5 NA synonymous SNV C12orf5:NM_020375:exon6:c.G441A:p.A147A exonic ENSG00000078237 NA synonymous SNV ENSG00000078237:ENST00000179259:exon6:c.G441A:p.A147A NA NA 12p13.32 NA NA NA NA rs7133330 0.19 0.19 0.17 0.183307 0.2714 0.1577 0.2839 0.0832 0.183 0.27 0.12 0.25 0.11 0.2357 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24586 NA NA 0.267674 0.11212 NA 0.145 NA 4.8918926 1163 11 130416921 130416921 C T intergenic ADAMTS15,C11orf44 dist=70382;dist=125930 NA NA ncRNA_exonic ENSG00000236616 NA NA NA Score=385;Name=lod=49 NA 11q24.3 NA NA NA NA rs2640218 0.06 0.06 0.053 0.043131 0.1083 0.001 0.0605 0.0136 0.047 0.12 0.0017 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58282 NA NA NA NA NA 0.029 NA 4.8917 1163 15 89869733 89869733 A G intronic POLG NA NA NA intronic ENSG00000140521 NA NA NA NA NA 15q26.1 NA Name=CTCF NA NA rs2351000 0.19 0.19 0.202 0.22504 0.1083 0.003 0.1124 0.5938 0.1554 0.1 NA 0.13 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576331 NA NA NA NA NA 0.232 NA 4.8917 1163 18 57817139 57817139 A G intergenic PMAIP1,MC4R dist=245601;dist=221425 NA NA ncRNA_exonic ENSG00000242060 NA NA NA Score=803;Name=lod=2440 NA 18q21.32 NA NA NA NA rs147256003 0.05 0.05 0.039 0.0371406 0.1083 NA 0.0749 0.0061 0.0174 0.09 NA 0.09 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317323 NA NA NA NA NA 0.007 NA 4.8917 1163 13 78216873 78216873 A G exonic SCEL NA synonymous SNV SCEL:NM_001160706:exon30:c.A1854G:p.L618L,SCEL:NM_003843:exon31:c.A1920G:p.L640L,SCEL:NM_144777:exon32:c.A1980G:p.L660L exonic ENSG00000136155 NA synonymous SNV ENSG00000136155:ENST00000535157:exon30:c.A1854G:p.L618L,ENSG00000136155:ENST00000377246:exon31:c.A1920G:p.L640L,ENSG00000136155:ENST00000349847:exon32:c.A1980G:p.L660L Score=432;Name=lod=76 NA 13q22.3 NA NA NA NA rs1053985 0.42 0.42 0.389 0.41234 0.6362 0.1825 0.5562 0.2935 0.4775 0.64 0.15 0.56 0.3 0.5294 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076312 NA NA 0.609379 0.331517 ID=COSM147703;OCCURENCE=1(stomach) 0.413 NA 4.8916876 1163 2 171822466 171822466 C T exonic GORASP2 NA synonymous SNV GORASP2:NM_001201428:exon10:c.C981T:p.S327S,GORASP2:NM_015530:exon10:c.C1185T:p.S395S exonic ENSG00000115806 NA synonymous SNV ENSG00000115806:ENST00000234160:exon10:c.C1185T:p.S395S,ENSG00000115806:ENST00000452526:exon11:c.C1221T:p.S407S NA Name=Cognitive performance 2q31.1 NA NA Name=42 NA rs4668356 0.86 0.86 0.836 0.840256 0.9344 1 0.902 0.5053 0.9877 0.94 1 0.87 0.56 0.9099 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261719 NA NA 0.931047 0.594871 NA 0.768 NA 4.8913196 1163 3 15737698 15737698 T C exonic ANKRD28 NA synonymous SNV ANKRD28:NM_001195099:exon13:c.A1050G:p.Q350Q,ANKRD28:NM_001195098:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_015199:exon15:c.A1512G:p.Q504Q exonic ENSG00000206560 NA synonymous SNV ENSG00000206560:ENST00000451422:exon14:c.A1344G:p.Q448Q,ENSG00000206560:ENST00000383777:exon15:c.A1611G:p.Q537Q,ENSG00000206560:ENST00000399451:exon15:c.A1512G:p.Q504Q,ENSG00000206560:ENST00000412318:exon15:c.A1512G:p.Q504Q Score=660;Name=lod=642 NA 3p25.1 NA NA NA NA rs2470549 0.45 0.45 0.412 0.412939 0.6014 0.3522 0.6066 0.1626 0.4826 0.6 0.39 0.62 0.18 0.5857 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177241 NA NA 0.588378 0.216066 NA 0.42 NA 4.8911886 1163 8 144658711 144658711 G A exonic NAPRT1 NA synonymous SNV NAPRT1:NM_145201:exon7:c.C913T:p.L305L exonic ENSG00000147813 NA synonymous SNV ENSG00000147813:ENST00000276844:exon7:c.C913T:p.L305L,ENSG00000147813:ENST00000340490:exon7:c.C913T:p.L305L,ENSG00000147813:ENST00000426292:exon7:c.C913T:p.L305L,ENSG00000147813:ENST00000435154:exon7:c.C913T:p.L305L,ENSG00000147813:ENST00000449291:exon7:c.C913T:p.L305L Score=355;Name=lod=37 NA 8q24.3 NA NA NA NA rs872935 0.45 0.45 0.417 0.397364 0.6262 0.3938 0.4611 0.1672 0.4315 0.63 0.35 0.55 0.22 0.5227 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644797 NA NA 0.626628 0.232727 NA 0.413 NA 4.8911386 1163 17 47000251 47000251 C T exonic UBE2Z NA synonymous SNV UBE2Z:NM_023079:exon6:c.C846T:p.Y282Y exonic ENSG00000159202 NA synonymous SNV ENSG00000159202:ENST00000514948:exon2:c.C114T:p.Y38Y,ENSG00000159202:ENST00000360943:exon6:c.C846T:p.Y282Y Score=648;Name=lod=574 NA 17q21.32 NA NA NA NA rs1058018 0.62 0.62 0.646 0.634784 0.6044 0.747 0.5187 0.5575 0.7372 0.61 0.74 0.5 0.57 0.5959 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773449 NA NA 0.575465 0.544485 NA 0.529 NA 4.8909016 1163 3 192874117 192874117 A C intergenic MB21D2,HRASLS dist=238167;dist=84800 NA NA ncRNA_exonic ENSG00000236229 NA NA NA Score=789;Name=lod=2135 NA 3q29 NA NA NA NA rs111517715 0.06 0.06 0.058 0.0758786 0.1093 0.002 0.0893 0.0393 0.1575 0.1 0.01 0.09 0.05 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252476 NA NA NA NA NA 0.101 NA 4.8907 1163 15 85189464 85189464 T G exonic WDR73 NA synonymous SNV WDR73:NM_032856:exon6:c.A468C:p.R156R exonic ENSG00000177082 NA synonymous SNV ENSG00000177082:ENST00000434634:exon6:c.A468C:p.R156R NA NA 15q25.2 NA NA NA NA rs2271431 0.18 0.18 0.145 0.147165 0.2734 0.1379 0.1902 0.0287 0.1564 0.28 0.15 0.22 0.02 0.2294 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705236 NA NA 0.273185 0.061627 NA 0.174 NA 4.8906816 1163 4 166325757 166325757 G A intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA Score=640;Name=lod=531 NA 4q32.3 NA NA NA NA rs2241814 0.43 0.43 0.451 0.434105 0.4433 0.4623 0.3602 0.4773 0.3896 0.44 0.43 0.37 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229171 NA NA NA NA NA 0.464 NA 4.8900333 1163 19 580575 580575 C T intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA Name=ZNF263 NA NA rs28992474 0.15 0.15 0.132 0.188898 0.1103 0.2302 0.0908 0.2095 0.2689 0.11 0.2 0.11 0.19 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033852 NA NA NA NA NA 0.051 NA 4.8897 1163 19 11227466 11227466 G T intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA Name=Pol2-4H8 NA NA rs7259278 0.26 0.26 0.272 0.254593 0.1103 0.3601 0.1326 0.4077 0.1738 0.12 0.37 0.12 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398291 NA NA NA NA NA 0.254 NA 4.8897 1163 1 897730 897730 C T intronic KLHL17 NA NA NA intronic ENSG00000187961 NA NA NA Score=569;Name=lod=273 NA 1p36.33 NA NA NA NA rs7549631 0.07 0.07 0.059 0.077476 0.0388 0.0575 0.0735 0.1747 0.0092 0.04 0.06 0.07 0.14 0.0443 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386067 NA NA 0.027222 0.161972 NA 0.029 NA 4.889678 1163 5 76721754 76721754 A G intronic PDE8B NA NA NA intronic ENSG00000113231 NA NA NA NA NA 5q13.3 NA NA Name=17 NA rs3816608 0.08 0.08 0.084 0.115615 0.0268 0.0585 0.0807 0.2322 0.1329 0.03 0.06 0.08 0.19 0.0608 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512957 NA NA 0.023023 0.209033 ID=COSN167505;OCCURENCE=1(large_intestine) 0.094 NA 4.889377 1163 3 157993838 157993838 G T intronic RSRC1 NA NA NA ncRNA_exonic ENSG00000241723 NA NA NA Score=770;Name=lod=1798 NA 3q25.32 NA NA NA NA rs2682405 0.52 0.52 0.518 0.493011 0.4443 0.623 0.4669 0.6021 0.2802 0.44 0.64 0.43 0.58 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411605 NA NA NA NA NA 0.522 NA 4.8890333 1163 3 157993937 157993937 G A intronic RSRC1 NA NA NA ncRNA_exonic ENSG00000241723 NA NA NA Score=770;Name=lod=1798 NA 3q25.32 NA NA NA NA rs2682404 0.52 0.52 0.528 0.493011 0.4443 0.623 0.4669 0.6021 0.2802 0.44 0.64 0.43 0.58 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.941845 2.941845 NA NA NA NA 0.522 NA 4.8890333 1163 4 166326908 166326908 G A intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA Score=728;Name=lod=1208 NA 4q32.3 NA NA NA NA rs6837954 0.47 0.47 0.48 0.472644 0.4443 0.4603 0.3732 0.6172 0.3896 0.44 0.42 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021385 NA NA NA NA NA 0.514 NA 4.8890333 1163 4 166326932 166326932 A C intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA Score=728;Name=lod=1208 NA 4q32.3 NA NA NA NA rs6837454 0.47 0.47 0.47 0.472843 0.4443 0.4603 0.3732 0.6172 0.3906 0.44 0.42 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523941 NA NA NA NA NA 0.507 NA 4.8890333 1163 4 166327010 166327010 A G intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA Score=728;Name=lod=1208 NA 4q32.3 NA NA NA NA rs934819 0.47 0.47 0.461 0.472843 0.4443 0.4613 0.3732 0.6172 0.3896 0.44 0.43 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123224 NA NA NA NA NA 0.514 NA 4.8890333 1163 11 82924358 82924358 T C intronic ANKRD42 NA NA NA ncRNA_exonic ENSG00000241020,ENSG00000254551 NA NA NA Score=720;Name=lod=1126 NA 11q14.1 NA NA NA NA rs617170 0.57 0.57 0.576 0.596046 0.4443 0.6329 0.4669 0.7852 0.5501 0.44 0.63 0.5 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.510522 1.510522 NA NA NA NA 0.609 NA 4.8890333 1163 4 121958187 121958187 A G exonic NDNF NA synonymous SNV NDNF:NM_024574:exon4:c.T939C:p.D313D exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon4:c.T939C:p.D313D Score=517;Name=lod=169 NA 4q27 NA NA NA NA rs3822230 0.48 0.48 0.454 0.425319 0.6113 0.6458 0.4726 0.0756 0.4458 0.61 0.65 0.5 0.09 0.5454 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048705 NA NA 0.621047 0.16591 ID=COSM1131289;OCCURENCE=1(prostate),1(large_intestine) 0.449 NA 4.8889196 1163 2 191231458 191231458 G A exonic INPP1 NA synonymous SNV INPP1:NM_002194:exon4:c.G303A:p.E101E,INPP1:NM_001128928:exon5:c.G303A:p.E101E exonic ENSG00000151689 NA synonymous SNV ENSG00000151689:ENST00000322522:exon4:c.G303A:p.E101E,ENSG00000151689:ENST00000409027:exon4:c.G303A:p.E101E,ENSG00000151689:ENST00000423767:exon4:c.G303A:p.E101E,ENSG00000151689:ENST00000444194:exon4:c.G303A:p.E101E,ENSG00000151689:ENST00000458647:exon4:c.G303A:p.E101E,ENSG00000151689:ENST00000392329:exon5:c.G303A:p.E101E,ENSG00000151689:ENST00000431594:exon5:c.G303A:p.E101E,ENSG00000151689:ENST00000541441:exon6:c.G303A:p.E101E Score=361;Name=lod=39 NA 2q32.2 NA NA NA NA rs11544940 0.7 0.7 0.687 0.691693 0.5775 0.7579 0.7968 0.8147 0.5 0.58 0.76 0.76 0.77 0.6234 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890613 NA NA 0.576977 0.781207 NA 0.746 NA 4.8887896 1163 1 41473283 41473283 A G intronic CTPS1 NA NA NA intronic ENSG00000171793 NA NA NA NA NA 1p34.2 NA NA Name=15 NA rs41308258 0.11 0.11 0.082 0.117212 0.1113 0.119 0.1657 0.0893 0.1247 0.1 0.13 0.14 0.06 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733022 NA NA NA NA NA 0.043 NA 4.8887 1163 13 45169705 45169705 C T intergenic TSC22D1-AS1,LINC00330 dist=15137;dist=203935 NA NA ncRNA_exonic ENSG00000230793 NA NA NA Score=687;Name=lod=825 NA 13q14.11 NA NA NA NA rs9533924 0.05 0.05 0.045 0.0491214 0.1113 0.001 0.0865 0.0098 0.0613 0.12 NA 0.05 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723012 NA NA NA NA NA 0.13 NA 4.8887 1163 19 20067507 20067507 G T intergenic ZNF93,ZNF682 dist=21125;dist=47720 NA NA ncRNA_intronic ENSG00000267268 NA NA NA NA NA 19p12 NA Name=Pol2 NA NA rs73532745 0.22 0.22 0.216 0.241214 0.1113 0.1895 0.2262 0.469 0.1309 0.12 0.16 0.2 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919498 NA NA NA NA NA 0.232 NA 4.8887 1163 19 20067562 20067562 A G intergenic ZNF93,ZNF682 dist=21180;dist=47665 NA NA ncRNA_exonic ENSG00000267268 NA NA NA NA NA 19p12 NA Name=Pol2,TAF1 NA NA rs7259551 0.22 0.22 0.224 0.242412 0.1113 0.1895 0.2262 0.4735 0.1309 0.12 0.16 0.2 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427702 NA NA NA NA NA 0.232 NA 4.8887 1163 15 42442422 42442422 T G intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA Name=CTCF,CTCF_(SC-5916) NA NA rs60506946 0.17 0.17 0.15 0.214657 0.0507 0.1131 0.3055 0.4349 0.1258 0.04 0.09 0.25 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669463 NA NA 0.060692 0.383671 NA 0.203 NA 4.888608 1163 1 59142713 59142713 T C exonic MYSM1 NA synonymous SNV MYSM1:NM_001085487:exon9:c.A1275G:p.P425P exonic ENSG00000162601 NA synonymous SNV ENSG00000162601:ENST00000472487:exon9:c.A1275G:p.P425P Score=701;Name=lod=940 NA 1p32.1 NA NA NA NA rs579110 0.63 0.63 0.624 0.647364 0.5875 0.629 0.6686 0.7133 0.6237 0.58 0.62 0.67 0.69 0.6118 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186094 NA NA 0.578935 0.669551 NA 0.616 NA 4.8884316 1163 3 195935207 195935207 C G intronic ZDHHC19 NA NA NA intronic ENSG00000163958 NA NA NA NA NA 3q29 NA Name=Egr-1,Pol2,E2F6,USF1_(SC-8983),Sin3Ak-20,E2F6_(H-50),USF2,USF-1,IRF1,Max Name=54 NA rs12497404 0.52 0.52 0.509 0.546526 0.5696 0.4187 0.5807 0.556 0.6176 0.56 0.37 0.57 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.482711 1.482711 NA 0.541981 0.540571 NA 0.507 NA 4.888419 1163 7 151064064 151064064 C T exonic NUB1 NA synonymous SNV NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y exonic ENSG00000013374 NA synonymous SNV ENSG00000013374:ENST00000355851:exon9:c.C840T:p.Y280Y,ENSG00000013374:ENST00000413040:exon9:c.C912T:p.Y304Y,ENSG00000013374:ENST00000566856:exon9:c.C840T:p.Y280Y,ENSG00000013374:ENST00000568733:exon9:c.C912T:p.Y304Y NA NA 7q36.1 NA NA Name=71 NA rs386956 0.48 0.48 0.446 0.384385 0.6302 0.4603 0.4553 0.1634 0.3016 0.63 0.51 0.51 0.18 0.5304 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261714 NA NA 0.617872 0.212813 ID=COSM1449335;OCCURENCE=1(large_intestine) 0.507 NA 4.8881946 1163 12 117993064 117993064 C T exonic KSR2 NA synonymous SNV KSR2:NM_173598:exon9:c.G1341A:p.P447P exonic ENSG00000171435 NA synonymous SNV ENSG00000171435:ENST00000302438:exon7:c.G519A:p.P173P,ENSG00000171435:ENST00000339824:exon9:c.G1428A:p.P476P,ENSG00000171435:ENST00000425217:exon9:c.G1341A:p.P447P NA NA 12q24.22 NA NA NA NA rs7955803 0.23 0.23 0.236 0.252396 0.2684 0.1587 0.2003 0.2799 0.3323 0.29 0.14 0.21 0.25 0.2544 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006932 NA NA 0.255716 0.264289 NA 0.29 NA 4.8881506 1163 5 21196872 21196872 T C intergenic CDH18,GUSBP1 dist=1208519;dist=262717 NA NA ncRNA_exonic ENSG00000248286 NA NA NA Score=284;Name=lod=19 NA 5p14.3 NA NA NA NA rs77265458 0.06 0.06 0.056 0.0447284 0.1123 0.002 0.0476 0.028 0.0399 0.12 0.0035 0.06 0.04 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703799 NA NA NA NA NA 0.138 NA 4.8877 1163 6 12161628 12161628 C A intronic HIVEP1 NA NA NA intronic ENSG00000095951 NA NA NA NA NA 6p24.1 NA NA Name=5 NA rs45516292 0.03 0.03 0.029 0.0279553 0.0408 0.0248 0.0418 0.0068 0.0368 0.04 0.02 0.05 0.002 0.0351 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451402 NA NA 0.036707 0.012486 NA 0.022 NA 4.887393 1163 14 78028705 78028705 C T intronic SPTLC2 NA NA NA intronic ENSG00000100596 NA NA NA NA NA 14q24.3 NA NA Name=4 NA rs45613436 0.03 0.03 0.031 0.0263578 0.0437 0.001 0.0216 0.025 0.0399 0.05 NA 0.03 0.04 0.0339 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224102 NA NA 0.035116 0.030413 NA 0.014 NA 4.887284 1163 9 74862294 74862294 T C intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA Score=251;Name=lod=14 NA 9q21.13 NA NA NA NA rs11143199 0.04 0.04 0.033 0.0367412 0.0388 NA 0.036 0.0877 0.0041 0.03 NA 0.05 0.07 0.0312 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.41344 3.41344 NA 0.042927 0.080154 NA 0.058 NA 4.887073 1163 8 87673711 87673711 C T intronic CNGB3 NA NA NA ncRNA_exonic ENSG00000233915 NA NA NA Score=470;Name=lod=108 NA 8q21.3 NA NA NA NA rs13268738 0.5 0.5 0.461 0.517971 0.4463 0.6012 0.611 0.3941 0.6074 0.46 0.58 0.54 0.45 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393391 NA 1 NA NA NA 0.565 NA 4.8870333 1163 6 31117695 31117695 G A intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA Name=2 NA rs113932411 0.09 0.09 0.075 0.0788738 0.1133 0.0357 0.1369 0.0567 0.0767 0.12 0.04 0.15 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146579 NA NA NA NA NA 0.051 NA 4.8867 1163 13 45169096 45169096 A G intergenic TSC22D1-AS1,LINC00330 dist=14528;dist=204544 NA NA ncRNA_exonic ENSG00000230793 NA NA NA Score=746;Name=lod=1438 NA 13q14.11 NA NA NA NA rs9533923 0.06 0.06 0.055 0.0617013 0.1133 0.001 0.0994 0.0499 0.0603 0.12 NA 0.06 0.06 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528624 NA NA NA NA NA 0.138 NA 4.8867 1163 2 25303772 25303772 G A intronic EFR3B NA NA NA ncRNA_exonic ENSG00000229593 NA NA NA Score=762;Name=lod=1666 NA 2p23.3 NA NA NA NA rs493090 0.39 0.39 0.356 0.375399 0.4473 0.5139 0.5476 0.0749 0.4427 0.45 0.52 0.49 0.08 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167119 NA NA NA NA NA 0.355 NA 4.8860333 1163 1 12921127 12921127 A G exonic PRAMEF2 NA synonymous SNV PRAMEF2:NM_023014:exon4:c.A918G:p.L306L exonic ENSG00000120952 NA synonymous SNV ENSG00000120952:ENST00000240189:exon4:c.A918G:p.L306L NA NA 1p36.21 NA NA NA NA rs12139549 0.3 0.3 0.33 0.322684 0.2604 0.3472 0.2421 0.4349 0.2669 0.27 0.31 0.24 0.38 0.2648 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675428 NA NA 0.255527 0.40713 NA 0.029 NA 4.8859396 1163 17 5043254 5043254 T C intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA Score=295;Name=lod=21 NA 17p13.2 NA NA NA NA rs1821722 0.09 0.09 0.076 0.0874601 0.1143 0.1607 0.0634 0.0098 0.1063 0.11 0.14 0.08 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517746 NA NA NA NA NA 0.036 NA 4.8857 1163 19 10102563 10102563 G A intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA Name=TR4 NA NA rs7251451 0.09 0.09 0.091 0.0996406 0.0278 0.0377 0.0648 0.289 0.0061 0.03 0.04 0.06 0.27 0.0532 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215627 NA NA 0.033488 0.254653 NA 0.138 NA 4.885512 1163 10 90503075 90503075 T C exonic LIPK NA synonymous SNV LIPK:NM_001080518:exon8:c.T957C:p.H319H exonic ENSG00000204021 NA synonymous SNV ENSG00000204021:ENST00000404190:exon8:c.T957C:p.H319H NA NA 10q23.31 NA NA NA NA rs390152 0.24 0.24 0.229 0.257788 0.2207 0.3502 0.2911 0.1959 0.2607 0.21 0.35 0.23 0.17 0.3368 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.990683 NA NA 0.223752 0.20563 ID=COSM1349666,COSM1349667;OCCURENCE=1(large_intestine) 0.152 NA 4.8854146 1163 9 111947761 111947761 G T intronic EPB41L4B NA NA NA intronic ENSG00000095203 NA NA NA Score=664;Name=lod=664 NA 9q31.3 NA NA NA NA rs41278377 0.02 0.02 0.024 0.0167732 0.0437 NA 0.0375 0.0008 0.0133 0.04 NA 0.03 NA 0.0293 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.573846 1.573846 NA 0.041616 0.009212 NA 0.072 NA 4.885384 1164 19 56413532 56413532 G A exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon9:c.C2658T:p.H886H exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon9:c.C2658T:p.H886H,ENSG00000173572:ENST00000588751:exon9:c.C2658T:p.H886H NA NA 19q13.43 NA NA NA NA rs7258847 0.16 0.16 0.138 0.148562 0.2803 0.0456 0.1787 0.0287 0.2597 0.29 0.05 0.2 0.05 0.2352 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646528 NA NA 0.266395 0.065592 NA 0.116 NA 4.8847716 1164 1 16890421 16890421 G A UTR3 NBPF1 NM_017940:c.*17C>T NA NA UTR3 ENSG00000219481 ENST00000430580:c.*17C>T NA NA NA NA 1p36.13 NA NA Name=9 NA rs2990549 NA NA 0.196 NA NA NA NA NA NA NA NA NA NA 0.4486 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.417749 NA NA NA NA NA NA NA 4.8847334 1164 14 65735539 65735539 C T intergenic MAX,MIR4708 dist=166277;dist=66297 NA NA ncRNA_intronic ENSG00000258760 NA NA NA NA NA 14q23.3 NA NA Name=3 NA rs1256516 0.26 0.26 0.279 0.26857 0.1153 0.2758 0.1167 0.5825 0.1022 0.11 0.28 0.14 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29803 NA NA NA NA NA 0.246 NA 4.8847 1164 3 14187345 14187345 G C UTR3 XPC NM_001145769:c.*96C>G,NM_004628:c.*96C>G NA NA ncRNA_UTR3 ENSG00000154767 NA NA NA NA NA 3p25.1 NA Name=CTCF NA NA rs2229090 0.27 0.27 0.226 0.254992 0.2624 0.4544 0.2522 0.1241 0.2209 0.27 0.4 0.26 0.11 0.3533 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.246547 NA NA NA NA NA 0.239 NA 4.8843 1164 6 30314566 30314566 T G exonic RPP21,TRIM39-RPP21 NA synonymous SNV RPP21:NM_001199120:exon5:c.T468G:p.T156T,RPP21:NM_024839:exon5:c.T444G:p.T148T,TRIM39-RPP21:NM_001199119:exon10:c.T1491G:p.T497T exonic ENSG00000241370,ENSG00000248167 NA synonymous SNV ENSG00000241370:ENST00000428040:exon4:c.T513G:p.T171T,ENSG00000241370:ENST00000433076:exon5:c.T468G:p.T156T,ENSG00000241370:ENST00000442966:exon5:c.T444G:p.T148T,ENSG00000248167:ENST00000513556:exon10:c.T1227G:p.T409T NA NA 6p22.1 NA NA NA NA rs1060065 0.31 0.31 0.292 0.372604 0.2435 0.505 0.4496 0.3018 0.41 0.21 0.44 0.36 0.29 0.2973 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009966 NA NA 0.241971 0.278293 NA NA NA 4.8838956 1164 2 101584951 101584951 A G intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 NA Name=Pol2 NA NA rs35503589 0.27 0.27 0.222 0.301118 0.1163 0.4583 0.3487 0.292 0.3078 0.13 0.43 0.28 0.29 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566039 NA NA NA NA NA 0.261 NA 4.8837 1164 11 73122340 73122340 A G intronic FAM168A NA NA NA intronic ENSG00000054965 NA NA NA NA NA 11q13.4 NA NA Name=3 NA rs1938777 0.18 0.18 0.177 0.204473 0.1163 0.0387 0.0994 0.5416 0.0849 0.12 0.04 0.09 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861813 NA NA NA NA NA 0.275 NA 4.8837 1164 5 178194326 178194326 C T ncRNA_exonic AACSP1 NA NA NA ncRNA_exonic ENSG00000250420 NA NA NA Score=599;Name=lod=362 NA 5q35.3 NA NA NA NA rs34080101 0.77 0.77 0.757 0.778355 0.7833 0.6667 0.755 0.8533 0.8037 0.79 0.65 0.75 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502945 NA NA NA NA ID=COSM482604;OCCURENCE=1(kidney) 0.833 NA 4.8833666 1164 6 30229463 30229463 G A ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA Score=295;Name=lod=21 NA 6p22.1 NA NA NA NA rs2023477 0.33 0.33 0.275 0.368211 0.2435 0.4861 0.4481 0.3003 0.41 0.22 0.44 0.4 0.3 0.2958 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.666553 1.666553 NA 0.244371 0.278477 NA 0.384 NA 4.8829956 1164 19 4816241 4816241 G A UTR3 TICAM1 NM_182919:c.*10C>T NA NA UTR3 ENSG00000127666 ENST00000248244:c.*10C>T NA NA NA NA 19p13.3 NA Name=JunD NA NA rs1046673 0.16 0.16 0.152 0.163938 0.1501 0.0675 0.1311 0.2935 0.1258 0.15 0.07 0.15 0.27 0.1449 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693037 NA NA 0.155465 0.285066 NA 0.174 NA 4.8828684 1164 15 84957252 84957252 G A intergenic GOLGA6L4,DNM1P41 dist=43132;dist=88554 NA NA ncRNA_intronic ENSG00000235370 NA NA NA Score=494;Name=lod=136 NA 15q25.2 NA NA NA NA rs34432900 0.29 0.29 0.297 0.33766 0.1173 0.497 0.134 0.4221 0.4305 0.11 0.47 0.15 0.46 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582041 NA NA NA NA NA 0.442 NA 4.8827 1164 3 66428282 66428282 C T UTR3 SLC25A26 NM_173471:c.*51C>T,NM_001164796:c.*51C>T NA NA UTR3 ENSG00000144741 ENST00000354883:c.*51C>T,ENST00000336733:c.*51C>T,ENST00000536651:c.*707C>T,ENST00000464350:c.*405C>T,ENST00000483224:c.*496C>T,ENST00000413054:c.*191C>T NA NA NA NA 3p14.1 NA NA Name=2 NA rs1046844 0.27 0.27 0.262 0.287939 0.2336 0.0546 0.3588 0.5552 0.1728 0.24 0.05 0.32 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037091 NA NA 0.21806 0.493595 NA 0.326 NA 4.8816734 1164 21 10862853 10862853 G A intergenic TEKT4P2,TPTE dist=894260;dist=43890 NA NA exonic ENSG00000169861 NA nonsynonymous SNV ENSG00000169861:ENST00000302092:exon2:c.G149A:p.S50N,ENSG00000169861:ENST00000559480:exon2:c.G149A:p.S50N Score=476;Name=lod=115 NA 21p11.2 NA NA NA NA rs1961808 NA NA 0.39 NA NA NA NA NA NA NA NA NA NA 0.4898 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013975 NA 0.41 0.461876 0.244701 NA 0.435 NA 4.8816574 1164 3 4491046 4491046 A G intronic SUMF1 NA NA NA intronic ENSG00000144455 NA NA NA Score=295;Name=lod=21 NA 3p26.1 NA NA NA NA rs711634 0.02 0.02 0.016 0.0123802 0.0408 NA 0.0144 0.0023 0.0082 0.04 NA 0.02 0.0041 0.0315 0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.823851 2.823851 NA 0.046395 0.01044 NA 0.094 NA 4.881305 1164 9 127913764 127913764 A G intronic PPP6C NA NA NA ncRNA_exonic ENSG00000232630 NA NA NA Score=739;Name=lod=1347 NA 9q33.3 NA NA NA NA rs7019234 0.45 0.45 0.45 0.453674 0.4523 0.5397 0.3458 0.4637 0.4294 0.42 0.55 0.38 0.43 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827698 NA NA NA NA NA 0.449 NA 4.8810333 1164 9 127913837 127913837 C T intronic PPP6C NA NA NA ncRNA_exonic ENSG00000232630 NA NA NA Score=739;Name=lod=1347 NA 9q33.3 NA NA NA NA rs7019470 0.45 0.45 0.458 0.454673 0.4523 0.5397 0.3458 0.4675 0.4294 0.42 0.55 0.38 0.43 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.037774 NA NA NA NA NA 0.449 NA 4.8810333 1164 2 159719031 159719031 A G intergenic DAPL1,TANC1 dist=46535;dist=106115 NA NA exonic ENSG00000163331 NA unknown UNKNOWN Score=321;Name=lod=27 NA 2q24.1 NA NA NA NA rs34995873 0.11 0.11 0.077 0.147764 0.1312 0.1974 0.0706 0.0113 0.3528 0.13 0.2 0.09 0.01 0.1546 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.967729 NA NA NA NA NA 0.094 NA 4.8808667 1164 3 195937410 195937410 G T intronic ZDHHC19 NA NA NA intronic ENSG00000163958 NA NA NA NA NA 3q29 NA Name=EBF1_(C-8) NA NA rs6795707 0.17 0.17 0.139 0.166134 0.1193 0.3492 0.1931 0.0136 0.2127 0.11 0.38 0.18 0.01 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315476 NA NA NA NA NA 0.058 NA 4.8807 1164 7 51450625 51450625 G C intergenic COBL,POM121L12 dist=66110;dist=1652724 NA NA ncRNA_exonic ENSG00000227233 NA NA NA Score=671;Name=lod=710 NA 7p12.1 NA NA NA NA rs62447032 0.18 0.18 0.177 0.20028 0.1193 0.2758 0.1052 0.2277 0.2362 0.11 0.29 0.1 0.22 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17549 NA NA NA NA NA 0.167 NA 4.8807 1164 19 35033414 35033414 A C intergenic WTIP,SCGB1B2P dist=41329;dist=34224 NA NA ncRNA_exonic ENSG00000248830 NA NA NA Score=289;Name=lod=20 NA 19q13.11 NA NA NA NA rs10406693 0.19 0.19 0.174 0.207867 0.1193 0.1002 0.0965 0.5348 0.047 0.11 0.05 0.09 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540838 NA NA NA NA NA 0.174 NA 4.8807 1164 14 105213343 105213343 A G UTR3 ADSSL1 NM_152328:c.*3A>G,NM_199165:c.*3A>G NA NA UTR3 ENSG00000185100 ENST00000330877:c.*3A>G,ENST00000332972:c.*3A>G,ENST00000553540:c.*808A>G,ENST00000556623:c.*3A>G,ENST00000555674:c.*3A>G NA NA NA NA 14q32.33 NA Name=FOXA1_(SC-101058),FOXA1_(C-20) Name=44 NA rs6644 0.63 0.63 0.624 0.687101 0.4453 0.6438 0.6614 0.9486 0.6452 0.43 0.62 0.65 0.96 0.5493 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124914 NA NA 0.458256 0.876305 NA 0.645 NA 4.8804774 1164 3 4403837 4403837 A G exonic SUMF1 NA synonymous SNV SUMF1:NM_001164674:exon8:c.T1041C:p.T347T,SUMF1:NM_001164675:exon8:c.T1056C:p.T352T,SUMF1:NM_182760:exon9:c.T1116C:p.T372T exonic ENSG00000144455 NA synonymous SNV ENSG00000144455:ENST00000458465:exon5:c.T720C:p.T240T,ENSG00000144455:ENST00000383843:exon8:c.T1041C:p.T347T,ENSG00000144455:ENST00000405420:exon8:c.T1056C:p.T352T,ENSG00000144455:ENST00000272902:exon9:c.T1116C:p.T372T NA NA 3p26.1 NA NA NA NA rs2633852 0.72 0.72 0.712 0.760383 0.5905 0.7609 0.6945 0.9206 0.7648 0.59 0.75 0.69 0.9 0.644 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428604 NA NA 0.551977 0.85202 NA 0.659 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082714.1;CLNDSDB=.;CLNDSDBID=. 4.8801896 1164 11 18267135 18267135 C T intronic SAA2,SAA2-SAA4 NA NA NA ncRNA_intronic ENSG00000255071 NA NA NA NA NA 11p15.1 NA NA Name=6 NA rs56373142 0.26 0.26 0.227 0.252196 0.4533 0.0536 0.2968 0.1921 0.2996 0.44 0.04 0.3 0.18 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111351 NA NA NA NA NA 0.406 NA 4.8800333 1164 17 42475983 42475983 G C exonic GPATCH8 NA synonymous SNV GPATCH8:NM_001002909:exon8:c.C3462G:p.T1154T exonic ENSG00000186566 NA synonymous SNV ENSG00000186566:ENST00000591680:exon8:c.C3462G:p.T1154T,ENSG00000186566:ENST00000434000:exon9:c.C3228G:p.T1076T Score=497;Name=lod=139 NA 17q21.31 NA NA NA NA rs936019 0.53 0.53 0.525 0.491613 0.6014 0.497 0.5937 0.4009 0.4233 0.59 0.52 0.63 0.4 0.563 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547108 NA NA 0.622558 0.412352 ID=COSM1178442;OCCURENCE=1(prostate) 0.384 NA 4.8797086 1164 2 38044662 38044662 G A intergenic CDC42EP3,RMDN2 dist=144984;dist=107800 NA NA ncRNA_exonic ENSG00000225402 NA NA NA Score=620;Name=lod=440 NA 2p22.2 NA NA NA NA rs62135788 0.09 0.09 0.077 0.0960463 0.1203 0.0308 0.072 0.1014 0.1483 0.13 0.03 0.09 0.08 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.607359 NA NA NA NA NA 0.094 NA 4.8797 1164 11 48485877 48485877 T C intergenic OR4C45,OR4A47 dist=111878;dist=24468 NA NA ncRNA_exonic ENSG00000254925 NA NA NA Score=243;Name=lod=13 NA 11p11.2 NA NA NA NA rs9667626 0.17 0.17 0.171 0.186302 0.1203 0.1667 0.1297 0.3359 0.1125 0.12 0.16 0.13 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55235 NA NA NA NA NA 0.181 NA 4.8797 1164 11 90016813 90016813 G T intergenic CHORDC1,MIR4490 dist=60281;dist=272129 NA NA ncRNA_exonic ENSG00000214391 NA NA NA Score=892;Name=lod=5600 NA 11q14.3 NA NA NA NA rs11606517 0.13 0.13 0.098 0.109625 0.1203 0.1696 0.2089 0.0045 0.1084 0.12 0.2 0.19 0.01 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452184 NA 0.07 NA NA NA 0.065 NA 4.8797 1164 12 39860886 39860886 C A intergenic KIF21A,ABCD2 dist=23694;dist=84136 NA NA ncRNA_exonic ENSG00000255991 NA NA NA Score=760;Name=lod=1639 NA 12q12 NA NA NA NA rs7302302 0.12 0.12 0.117 0.124401 0.1203 0.1429 0.0677 0.1437 0.1237 0.11 0.13 0.08 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225803 NA NA NA NA NA 0.08 NA 4.8797 1164 19 35035873 35035873 G C intergenic WTIP,SCGB1B2P dist=43788;dist=31765 NA NA ncRNA_exonic ENSG00000248830 NA NA NA Score=251;Name=lod=14 NA 19q13.11 NA NA NA NA rs6510426 0.23 0.23 0.243 0.253195 0.1203 0.1002 0.1124 0.6974 0.047 0.11 0.05 0.11 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133017 NA NA NA NA NA 0.326 NA 4.8797 1164 8 139697478 139697478 T C exonic COL22A1 NA synonymous SNV COL22A1:NM_152888:exon38:c.A2940G:p.P980P exonic ENSG00000169436 NA synonymous SNV ENSG00000169436:ENST00000303045:exon38:c.A2940G:p.P980P,ENSG00000169436:ENST00000435777:exon38:c.A2940G:p.P980P NA NA 8q24.23 Score=715;Name=V$HOX13_01 NA NA NA rs9644500 0.59 0.59 0.543 0.578674 0.5974 0.7887 0.6412 0.379 0.5685 0.6 0.77 0.6 0.35 0.5888 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663311 NA NA 0.60093 0.431457 NA 0.493 NA 4.8795366 1164 3 98540982 98540982 A G intronic DCBLD2 NA NA NA intronic ENSG00000057019 NA NA NA NA NA 3q12.1 NA NA NA NA rs852701 0.41 0.41 0.361 0.385783 0.3757 0.6796 0.5115 0.0772 0.4213 0.36 0.69 0.51 0.1 0.3907 0.69 0.5 T . . . . . . 1.000 P . . . . -0.939 T 0.000 T . -0.175 3.147 -3.59 -0.742 -0.401 1.020 -0.175133 NA NA 0.354093 0.125571 NA 0.254 NA 4.879507 1164 5 141335241 141335241 A G exonic PCDH12 NA synonymous SNV PCDH12:NM_016580:exon1:c.T2176C:p.L726L exonic ENSG00000113555 NA synonymous SNV ENSG00000113555:ENST00000231484:exon1:c.T2176C:p.L726L Score=325;Name=lod=28 NA 5q31.3 NA NA NA NA rs164073 0.75 0.75 0.762 0.780152 0.5765 0.8581 0.719 0.941 0.7352 0.56 0.86 0.69 0.93 0.6519 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754382 NA NA 0.55907 0.867907 NA 0.754 NA 4.8791966 1164 15 34634138 34634138 G A UTR3 NOP10 NM_018648:c.*31C>T NA NA UTR3 ENSG00000182117 ENST00000328848:c.*31C>T,ENST00000557912:c.*57C>T NA NA NA NA 15q14 NA Name=BRF2 NA NA rs1045204 0.17 0.17 0.179 0.205471 0.1561 0.3353 0.1945 0.1339 0.227 0.13 0.29 0.15 0.1 0.1667 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526054 NA NA 0.13134 0.137892 ID=COSN164888;OCCURENCE=1(NS) NA NA 4.8791934 1164 5 126792974 126792974 T A exonic MEGF10 NA synonymous SNV MEGF10:NM_001256545:exon25:c.T3387A:p.G1129G,MEGF10:NM_032446:exon26:c.T3387A:p.G1129G exonic ENSG00000145794 NA synonymous SNV ENSG00000145794:ENST00000503335:exon25:c.T3387A:p.G1129G,ENSG00000145794:ENST00000274473:exon26:c.T3387A:p.G1129G Score=422;Name=lod=69 NA 5q23.2 NA NA NA NA rs3812052 0.42 0.42 0.408 0.377995 0.6372 0.3026 0.4712 0.1604 0.4172 0.63 0.32 0.49 0.18 0.5275 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.097939 NA NA 0.622907 0.240581 NA 0.29 NA 4.8790596 1164 2 42697197 42697197 G A intronic KCNG3 NA NA NA ncRNA_exonic ENSG00000236913 NA NA NA Score=638;Name=lod=524 NA 2p21 NA NA NA NA rs34213343 0.4 0.4 0.37 0.404553 0.4543 0.2391 0.598 0.2965 0.5327 0.43 0.25 0.61 0.35 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572225 NA NA NA NA NA 0.406 NA 4.8790333 1164 19 613491 613491 G A intronic HCN2 NA NA NA intronic ENSG00000099822 NA NA NA Score=493;Name=lod=134 NA 19p13.3 NA NA NA NA rs55812706 0.02 0.02 0.024 0.0191693 0.0437 NA 0.0173 0.003 0.0368 0.05 NA 0.02 0.01 0.034 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42634 NA NA 0.043372 0.00545 NA 0.014 NA 4.878928 1164 14 95192635 95192635 C A intergenic SERPINA13P,GSC dist=79304;dist=41925 NA NA ncRNA_exonic ENSG00000239269 NA NA NA Score=800;Name=lod=2376 NA 14q32.13 NA NA NA NA rs61745669 0.08 0.08 0.086 0.0978435 0.1213 0.0536 0.0605 0.0643 0.1912 0.11 0.06 0.07 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029079 NA NA NA NA NA 0.109 NA 4.8787 1164 14 95193377 95193377 T G intergenic SERPINA13P,GSC dist=80046;dist=41183 NA NA ncRNA_exonic ENSG00000239269 NA NA NA Score=800;Name=lod=2376 NA 14q32.13 NA NA NA NA rs3814818 0.08 0.08 0.073 0.0978435 0.1213 0.0536 0.0605 0.0643 0.1912 0.11 0.06 0.07 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686012 NA NA NA NA NA 0.109 NA 4.8787 1164 3 148925418 148925418 G A intronic CP NA NA NA intronic ENSG00000047457 NA NA NA NA NA 3q25.1 NA NA Name=7 NA rs34067682 0.05 0.05 0.036 0.0451278 0.0378 0.0417 0.0346 0.0719 0.0276 0.03 0.05 0.05 0.08 0.04 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.877147 1.877147 NA 0.043615 0.070586 NA 0.058 NA 4.878585 1164 20 10032413 10032413 T G exonic ANKEF1 NA synonymous SNV ANKEF1:NM_198798:exon7:c.T1746G:p.A582A,ANKEF1:NM_022096:exon8:c.T1746G:p.A582A exonic ENSG00000132623 NA synonymous SNV ENSG00000132623:ENST00000378380:exon7:c.T1746G:p.A582A,ENSG00000132623:ENST00000378392:exon8:c.T1746G:p.A582A NA NA 20p12.2 NA NA NA NA rs683145 0.18 0.18 0.188 0.200679 0.2744 0.0069 0.1585 0.2791 0.2485 0.27 0.01 0.18 0.25 0.2335 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137539 NA NA 0.280814 0.27054 NA 0.196 NA 4.8779526 1164 5 66904546 66904546 G A intergenic CD180,PIK3R1 dist=411929;dist=607038 NA NA ncRNA_exonic ENSG00000239870 NA NA NA Score=719;Name=lod=1117 NA 5q13.1 NA NA NA NA rs72766860 0.06 0.06 0.051 0.057508 0.1223 NA 0.0677 0.0106 0.1063 0.13 NA 0.05 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570281 NA NA NA NA NA 0.087 NA 4.8777 1164 12 52709222 52709222 T C intronic KRT83 NA NA NA intronic ENSG00000170523,ENSG00000267873 NA NA NA NA NA 12q13.13 NA Name=c-Jun,JunD NA NA rs3741720 0.2 0.2 0.185 0.176917 0.1223 0.4325 0.1873 0.0265 0.1656 0.13 0.42 0.23 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.091807 NA NA NA NA NA 0.051 NA 4.8777 1164 15 40604777 40604777 A T intergenic PLCB2,C15orf52 dist=4603;dist=18876 NA NA ncRNA_exonic ENSG00000244705 NA NA NA Score=796;Name=lod=2290 NA 15q15.1 NA NA NA NA rs2412509 0.15 0.15 0.134 0.179113 0.1223 0.2143 0.1671 0.1392 0.2638 0.12 0.2 0.16 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275007 NA NA NA NA NA 0.152 NA 4.8777 1164 19 57828735 57828735 G T intergenic ZNF460,ZNF543 dist=23299;dist=3130 NA NA ncRNA_exonic ENSG00000268723 NA NA NA Score=688;Name=lod=832 NA 19q13.43 NA NA NA NA rs1559 0.23 0.23 0.205 0.244808 0.1223 0.3482 0.2061 0.3026 0.2137 0.12 0.35 0.18 0.31 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.510558 3.510558 NA NA NA NA 0.167 NA 4.8777 1164 9 34224285 34224285 C T intronic UBAP1 NA NA NA ncRNA_exonic ENSG00000233668 NA NA NA Score=739;Name=lod=1340 NA 9p13.3 NA NA NA NA rs17258212 0.25 0.25 0.208 0.226238 0.4563 0.0615 0.3372 0.0598 0.3057 0.46 0.07 0.38 0.05 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692195 NA NA NA NA NA 0.355 NA 4.8770333 1164 20 46365571 46365571 A G exonic SULF2 NA synonymous SNV SULF2:NM_001161841:exon3:c.T291C:p.T97T,SULF2:NM_018837:exon3:c.T291C:p.T97T,SULF2:NM_198596:exon3:c.T291C:p.T97T exonic ENSG00000196562 NA synonymous SNV ENSG00000196562:ENST00000359930:exon3:c.T291C:p.T97T,ENSG00000196562:ENST00000361612:exon3:c.T291C:p.T97T,ENSG00000196562:ENST00000437955:exon3:c.T291C:p.T97T,ENSG00000196562:ENST00000467815:exon3:c.T291C:p.T97T,ENSG00000196562:ENST00000484875:exon3:c.T291C:p.T97T Score=695;Name=lod=887 NA 20q13.12 NA NA NA NA rs3810526 0.66 0.66 0.68 0.655751 0.5636 0.625 0.5764 0.8336 0.5982 0.55 0.7 0.58 0.83 0.6142 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.477354 1.477354 NA 0.612093 0.779392 NA 0.63 NA 4.8767736 1164 15 81666431 81666431 A G upstream TMC3 NA NA NA UTR5 ENSG00000188869 ENST00000359440:c.-13T>C,ENST00000558726:c.-13T>C NA NA NA NA 15q25.1 NA NA Name=27 NA rs77997646 0.06 0.06 0.063 0.0626997 0.0278 0.0754 0.0231 0.1067 0.0542 0.03 0.09 0.03 0.11 0.0543 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514944 NA NA 0.041137 0.080153 NA 0.051 NA 4.876763 1164 9 117609723 117609723 T A intergenic TNFSF15,TNFSF8 dist=41315;dist=45900 NA NA ncRNA_exonic ENSG00000229817 NA NA NA Score=652;Name=lod=596 NA 9q32 NA NA NA NA rs10491581 0.13 0.13 0.121 0.159744 0.1233 0.1835 0.1628 0.1014 0.2495 0.12 0.15 0.14 0.11 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.541796 1.541796 NA NA NA NA 0.123 NA 4.8767 1164 11 124401725 124401725 T G intergenic OR8B8,OR8B12 dist=90744;dist=10893 NA NA ncRNA_exonic ENSG00000255315 NA NA NA Score=309;Name=lod=24 NA 11q24.2 NA NA NA NA rs11219687 0.17 0.17 0.155 0.173722 0.1233 0.1538 0.2305 0.2179 0.1462 0.13 0.14 0.21 0.24 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023772 NA NA NA NA NA 0.268 NA 4.8767 1164 14 39684269 39684269 G A intergenic PNN,MIA2 dist=31847;dist=18856 NA NA ncRNA_exonic ENSG00000270503 NA NA NA Score=718;Name=lod=1108 NA 14q21.1 NA NA NA NA rs74048717 0.23 0.23 0.214 0.198083 0.1233 0.4435 0.1268 0.1619 0.1217 0.12 0.47 0.14 0.17 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.254728 1.254728 NA NA NA NA 0.094 NA 4.8767 1164 19 20003576 20003576 C G UTR3 ZNF253 NM_021047:c.*20C>G NA NA ncRNA_UTR3 ENSG00000256771 NA NA NA Score=374;Name=lod=44 NA 19p12 NA NA NA NA rs12460570 0.32 0.32 0.266 0.298323 0.1839 0.6181 0.3098 0.1899 0.2249 0.2 0.62 0.25 0.2 0.2447 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826888 NA NA 0.194712 0.184689 NA 0.283 NA 4.876688 1164 19 58420167 58420167 T C exonic ZNF417 NA synonymous SNV ZNF417:NM_152475:exon3:c.A1479G:p.E493E exonic ENSG00000173480 NA synonymous SNV ENSG00000173480:ENST00000312026:exon3:c.A1479G:p.E493E,ENSG00000173480:ENST00000595559:exon3:c.A1476G:p.E492E,ENSG00000173480:ENST00000536263:exon4:c.A882G:p.E294E NA NA 19q13.43 NA NA NA NA rs17852300 0.21 0.21 0.15 0.246206 0.2972 0.2847 0.219 0.1543 0.2975 0.26 0.23 0.22 0.1 0.2584 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275429 NA NA 0.234938 0.119156 ID=COSM148789;OCCURENCE=1(stomach) 0.246 NA 4.8761286 1164 1 43352995 43352995 A T intergenic ZNF691,SLC2A1 dist=34849;dist=38051 NA NA ncRNA_intronic ENSG00000233708 NA NA NA Score=588;Name=lod=328 NA 1p34.2 NA NA NA NA rs72669421 0.17 0.17 0.145 0.166534 0.1243 0.2192 0.2723 0.1127 0.1534 0.13 0.25 0.22 0.12 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119286 NA NA NA NA NA 0.109 NA 4.8757 1164 1 203797335 203797335 A G intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA Name=22 NA rs35073773 0.06 0.06 0.054 0.0547125 0.1243 0.002 0.0476 0.0265 0.0808 0.12 0.0035 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938144 NA NA NA NA NA 0.029 NA 4.8757 1164 1 220488354 220488354 T A intergenic RAB3GAP2,MARK1 dist=42511;dist=213214 NA NA ncRNA_exonic ENSG00000230318 NA NA NA Score=678;Name=lod=758 NA 1q41 NA NA NA NA rs6694670 0.22 0.22 0.254 0.227436 0.1243 0.2758 0.1729 0.3457 0.1626 0.12 0.3 0.13 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251528 NA NA NA NA NA 0.261 NA 4.8757 1164 1 220490435 220490435 T C intergenic RAB3GAP2,MARK1 dist=44592;dist=211133 NA NA ncRNA_exonic ENSG00000232883 NA NA NA Score=796;Name=lod=2285 NA 1q41 NA NA NA NA rs7553951 0.22 0.22 0.222 0.227436 0.1243 0.2758 0.1729 0.3457 0.1626 0.12 0.3 0.13 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118444 NA NA NA NA NA 0.232 NA 4.8757 1164 1 220490497 220490497 C T intergenic RAB3GAP2,MARK1 dist=44654;dist=211071 NA NA ncRNA_exonic ENSG00000232883 NA NA NA Score=796;Name=lod=2285 NA 1q41 NA NA NA NA rs7540014 0.22 0.22 0.226 0.227436 0.1243 0.2758 0.1729 0.3457 0.1626 0.12 0.3 0.13 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043335 NA NA NA NA NA 0.261 NA 4.8757 1164 1 220490743 220490743 T C intergenic RAB3GAP2,MARK1 dist=44900;dist=210825 NA NA ncRNA_exonic ENSG00000232883 NA NA NA Score=796;Name=lod=2285 NA 1q41 NA NA NA NA rs59417140 0.22 0.22 0.218 0.228834 0.1243 0.2768 0.1758 0.3487 0.1626 0.12 0.3 0.13 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234775 NA NA NA NA NA 0.268 NA 4.8757 1164 3 9854865 9854865 A C intronic ARPC4-TTLL3,TTLL3 NA NA NA intronic ENSG00000214021,ENSG00000241553,ENSG00000250151 NA NA NA NA NA 3p25.3 NA Name=Pol2-4H8,BCL3 NA NA rs11708462 0.14 0.14 0.131 0.134185 0.1243 0.0486 0.1124 0.2572 0.0818 0.13 0.06 0.13 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546189 NA NA NA NA NA 0.152 NA 4.8757 1164 4 2178149 2178149 G A intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA Name=3 NA rs6599413 0.31 0.31 0.311 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04388 NA NA NA NA NA 0.362 NA 4.8757 1164 9 88692255 88692255 C T intronic GOLM1 NA NA NA intronic ENSG00000135052 NA NA NA NA NA 9q21.33 NA NA Name=9 NA rs17051613 0.08 0.08 0.072 0.0878594 0.1243 0.0486 0.0562 0.0658 0.1431 0.12 0.04 0.07 0.08 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03955 NA NA NA NA NA 0.094 NA 4.8757 1164 9 117609919 117609919 A C intergenic TNFSF15,TNFSF8 dist=41511;dist=45704 NA NA ncRNA_exonic ENSG00000229817 NA NA NA Score=735;Name=lod=1289 NA 9q32 NA NA NA NA rs16931895 0.13 0.13 0.106 0.160942 0.1243 0.1835 0.1643 0.1044 0.2495 0.12 0.15 0.14 0.11 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686716 NA NA NA NA NA 0.123 NA 4.8757 1164 13 20221516 20221516 A G intronic MPHOSPH8 NA NA NA intronic ENSG00000196199 NA NA NA NA NA 13q12.11 NA NA Name=2 NA rs35424555 0.12 0.12 0.108 0.128994 0.1243 0.0417 0.1455 0.2413 0.0603 0.1 0.02 0.19 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069407 NA NA NA NA NA 0.109 NA 4.8757 1164 14 65735684 65735684 T C intergenic MAX,MIR4708 dist=166422;dist=66152 NA NA ncRNA_exonic ENSG00000214759 NA NA NA Score=597;Name=lod=357 NA 14q23.3 NA NA NA NA rs1256517 0.26 0.26 0.272 0.273163 0.1243 0.2758 0.1297 0.5825 0.1074 0.12 0.28 0.15 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441851 NA NA NA NA NA 0.254 NA 4.8757 1164 11 5322520 5322520 G A exonic OR51B4 NA synonymous SNV OR51B4:NM_033179:exon1:c.C657T:p.L219L exonic ENSG00000183251 NA synonymous SNV ENSG00000183251:ENST00000380224:exon1:c.C657T:p.L219L NA NA 11p15.4 NA NA NA NA rs12283334 0.19 0.19 0.165 0.196885 0.2565 0.1458 0.2651 0.1354 0.2229 0.26 0.12 0.29 0.09 0.2549 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.610527 NA NA 0.280195 0.143344 NA 0.275 NA 4.8750716 1165 13 29173197 29173197 C T intergenic FLT1,POMP dist=103932;dist=59944 NA NA ncRNA_exonic ENSG00000235472 NA NA NA Score=798;Name=lod=2344 NA 13q12.3 NA NA NA NA rs11617595 0.17 0.17 0.159 0.205072 0.1252 0.1815 0.2147 0.233 0.2669 0.11 0.18 0.21 0.21 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813194 NA NA NA NA NA 0.239 NA 4.8748 1165 17 59543090 59543090 T C intronic TBX4 NA NA NA intronic ENSG00000121075 NA NA NA NA NA 17q23.2 NA NA Name=2 NA rs35279830 0.18 0.18 0.161 0.17492 0.1252 0.2331 0.1484 0.1967 0.1554 0.14 0.22 0.14 0.22 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427169 NA NA NA NA NA 0.152 NA 4.8748 1165 20 60734914 60734914 C G intronic SS18L1 NA NA NA intronic ENSG00000184402 NA NA NA NA NA 20q13.33 NA Name=GR NA NA rs56404343 0.02 0.02 0.011 0.0185703 0.0477 NA 0.0331 0.0053 0.0153 0.04 NA 0.02 0.0041 0.0334 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536615 NA NA 0.044894 0.008868 NA 0.014 NA 4.874006 1165 8 59512334 59512334 G A exonic NSMAF NA synonymous SNV NSMAF:NM_001144772:exon18:c.C1521T:p.D507D,NSMAF:NM_003580:exon18:c.C1428T:p.D476D exonic ENSG00000035681 NA synonymous SNV ENSG00000035681:ENST00000038176:exon18:c.C1428T:p.D476D,ENSG00000035681:ENST00000427130:exon18:c.C1521T:p.D507D Score=508;Name=lod=155 NA 8q12.1 Score=930;Name=V$ATF6_01 NA NA NA rs2680903 0.94 0.94 0.947 0.929313 0.9294 0.9792 0.9352 0.8585 0.9693 0.93 0.98 0.94 0.9 0.9309 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185913 NA NA 0.932442 0.879256 NA 0.855 NA 4.8739246 1165 6 29912398 29912398 A G intronic HLA-A NA NA NA exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376806:exon5:c.A1017G:p.G339G NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs9260191 0.51 0.51 0.466 NA NA NA NA NA NA 0.48 0.47 0.52 0.6 0.5025 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135417 NA NA 0.456916 0.513926 NA 0.319 NA 4.8739173 1165 5 2788209 2788209 G A intergenic C5orf38,LOC285577 dist=32698;dist=629057 NA NA ncRNA_exonic ENSG00000249541 NA NA NA Score=510;Name=lod=158 NA 5p15.33 NA NA NA NA rs6897101 0.1 0.1 0.102 0.10623 0.1262 0.1071 0.0576 0.1104 0.1135 0.13 0.07 0.04 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524223 NA NA NA NA NA 0.029 NA 4.8738 1165 15 79851655 79851655 A G intergenic KIAA1024,MTHFS dist=87013;dist=284234 NA NA ncRNA_exonic ENSG00000259493 NA NA NA Score=579;Name=lod=300 NA 15q25.1 NA NA NA NA rs60938192 0.14 0.14 0.146 0.147963 0.1262 0.1548 0.2133 0.0983 0.184 0.12 0.17 0.15 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055739 NA NA NA NA NA 0.101 NA 4.8738 1165 20 18143355 18143355 C T exonic CSRP2BP NA synonymous SNV CSRP2BP:NM_020536:exon6:c.C1437T:p.P479P exonic ENSG00000149474 NA synonymous SNV ENSG00000149474:ENST00000489634:exon5:c.C1053T:p.P351P,ENSG00000149474:ENST00000435364:exon6:c.C1437T:p.P479P,ENSG00000149474:ENST00000278816:exon7:c.C1437T:p.P479P,ENSG00000149474:ENST00000377681:exon7:c.C1434T:p.P478P NA NA 20p11.23 NA NA NA NA rs1205194 0.29 0.29 0.284 0.28774 0.2575 0.498 0.2651 0.0688 0.4141 0.27 0.53 0.24 0.09 0.2879 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694306 NA NA 0.247791 0.100772 NA 0.254 NA 4.8734756 1165 3 197239266 197239266 C G intronic BDH1 NA NA NA intronic ENSG00000161267 NA NA NA NA NA 3q29 NA Name=E2F6_(H-50),CTCF_(SC-5916),Rad21,CTCF Name=10 NA rs9325394 0.26 0.26 0.241 0.236422 0.4125 0.0536 0.2291 0.2867 0.181 0.41 0.06 0.25 0.27 0.3297 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094109 NA NA 0.384471 0.306341 NA 0.297 NA 4.873329 1165 9 127620141 127620141 A G UTR3 WDR38 NM_001276375:c.*232A>G,NM_001276374:c.*232A>G,NM_001045476:c.*232A>G,NM_001276376:c.*232A>G NA NA UTR3 ENSG00000136918 ENST00000373574:c.*232A>G NA NA NA NA 9q33.3 NA NA Name=2 NA rs876663 0.32 0.32 0.297 0.289537 0.4602 0.3542 0.317 0.0734 0.32 0.44 0.36 0.33 0.07 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466334 NA NA NA NA NA 0.304 NA 4.8731334 1165 8 136638171 136638171 A T intronic KHDRBS3 NA NA NA ncRNA_exonic ENSG00000253915 NA NA NA Score=621;Name=lod=447 NA 8q24.23 NA NA NA NA rs10089538 0.38 0.38 0.331 0.389976 0.4602 0.4504 0.4611 0.1369 0.547 0.46 0.43 0.48 0.13 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354365 NA NA NA NA NA 0.239 NA 4.8731333 1165 16 68720344 68720344 C T intronic CDH3 NA NA NA ncRNA_exonic ENSG00000261395 NA NA NA Score=607;Name=lod=390 NA 16q22.1 NA NA NA NA rs4783664 0.43 0.43 0.398 0.404752 0.4602 0.5516 0.4452 0.174 0.4796 0.47 0.58 0.45 0.17 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968572 NA NA NA NA NA 0.486 NA 4.8731333 1165 2 3624303 3624303 G A intronic RPS7 NA NA NA intronic ENSG00000171863 NA NA NA NA NA 2p25.3 NA NA Name=5 NA rs80103345 0.04 0.04 0.04 0.0571086 0.0636 0.0575 0.036 0.0113 0.1268 0.06 0.04 0.04 0.01 0.0633 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319206 NA NA NA NA NA 0.058 NA 4.8731 1165 2 75113789 75113789 C G exonic HK2 NA synonymous SNV HK2:NM_000189:exon15:c.C2208G:p.P736P exonic ENSG00000159399 NA synonymous SNV ENSG00000159399:ENST00000290573:exon15:c.C2208G:p.P736P,ENSG00000159399:ENST00000409174:exon15:c.C2124G:p.P708P NA NA 2p12 Score=769;Name=V$AHRARNT_02 NA NA NA rs2229627 0.53 0.53 0.523 0.517572 0.6203 0.4554 0.4928 0.4175 0.6288 0.62 0.47 0.54 0.47 0.5721 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939144 NA NA 0.601395 0.447345 NA 0.507 NA 4.8728716 1165 4 110476870 110476870 G C intergenic SEC24B,CCDC109B dist=15255;dist=4485 NA NA ncRNA_exonic ENSG00000249965 NA NA NA Score=739;Name=lod=1338 NA 4q25 NA NA NA NA rs6818911 0.27 0.27 0.31 0.309105 0.1272 0.126 0.1196 0.8033 0.1513 0.13 0.09 0.12 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005445 NA NA NA NA NA 0.42 NA 4.8728 1165 6 31246266 31246266 C T intergenic HLA-C,HLA-B dist=6353;dist=75383 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=621;Name=lod=445 NA 6p21.33 NA NA NA NA rs11967243 0.16 0.16 0.137 0.13139 0.1272 0.253 0.1282 0.0832 0.0777 0.14 0.27 0.12 0.08 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452188 1.452188 NA NA NA NA 0.138 NA 4.8728 1165 7 128479982 128479982 C G intronic FLNC NA NA NA intronic ENSG00000128591 NA NA NA NA NA 7q32.1 Score=851;Name=V$NGFIC_01 NA NA NA rs61448157 0.17 0.17 0.171 0.202476 0.1272 0.1786 0.1527 0.2799 0.2352 0.12 0.16 0.12 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355508 1.355508 NA NA NA NA 0.254 NA 4.8728 1165 13 48337637 48337637 G C intergenic HTR2A,SUCLA2 dist=866426;dist=179154 NA NA ncRNA_exonic ENSG00000234145 NA NA NA Score=693;Name=lod=872 NA 13q14.2 NA NA NA NA rs1924802 0.1 0.1 0.102 0.126398 0.1272 0.131 0.0836 0.0847 0.2076 0.12 0.11 0.09 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67845 NA NA NA NA ID=COSN164490;OCCURENCE=1(breast) 0.101 NA 4.8728 1165 6 11714806 11714806 G A intronic ADTRP NA NA NA intronic ENSG00000111863 NA NA NA NA NA 6p24.1 NA Name=MEF2A,ZNF263,Pol2-4H8,YY1_(C-20),EBF,EBF1_(C-8),NFKB Name=15 NA rs3734273 0.41 0.41 0.366 0.381989 0.5577 0.2718 0.572 0.1906 0.4387 0.55 0.29 0.56 0.22 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463848 NA NA 0.569767 0.266618 NA 0.348 NA 4.872533 1165 7 149508703 149508703 G C intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA Name=eGFP-GATA2 NA NA rs55649542 0.21 0.21 0.192 0.20647 0.1441 0.2401 0.1614 0.3147 0.1217 0.13 0.22 0.16 0.33 0.1658 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239973 NA NA 0.151068 0.287463 ID=COSN168221;OCCURENCE=1(large_intestine) 0.225 NA 4.8723653 1165 6 154538359 154538359 A G intronic IPCEF1,OPRM1 NA NA NA ncRNA_exonic ENSG00000237593 NA NA NA Score=752;Name=lod=1522 NA 6q25.2 NA NA NA NA rs790259 0.48 0.48 0.495 0.525958 0.4612 0.3214 0.6297 0.6793 0.5225 0.44 0.32 0.59 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318122 NA NA NA NA NA 0.493 NA 4.8721333 1165 2 232450762 232450762 G A intergenic NMUR1,C2orf57 dist=55580;dist=6813 NA NA ncRNA_exonic ENSG00000228884 NA NA NA Score=737;Name=lod=1313 NA 2q37.1 NA NA NA NA rs13008814 0.06 0.06 0.048 0.0509185 0.1282 0.001 0.0576 0.0038 0.0818 0.14 0.0017 0.07 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207859 NA NA NA NA NA 0.058 NA 4.8718 1165 8 13562995 13562995 G C intergenic C8orf48,SGCZ dist=137198;dist=384378 NA NA ncRNA_exonic ENSG00000255457 NA NA NA Score=583;Name=lod=312 NA 8p22 NA NA NA NA rs1481907 0.08 0.08 0.08 0.0832668 0.1282 0.0248 0.0951 0.059 0.1217 0.13 0.02 0.11 0.05 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039126 NA NA NA NA NA 0.094 NA 4.8718 1165 17 6225895 6225895 C A intergenic WSCD1,AIPL1 dist=198148;dist=101164 NA NA ncRNA_exonic ENSG00000262609 NA NA NA Score=682;Name=lod=789 NA 17p13.2 NA NA NA NA rs12600964 0.21 0.21 0.197 0.188099 0.1282 0.2411 0.3112 0.1755 0.1247 0.14 0.26 0.26 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377971 NA NA NA NA NA 0.116 NA 4.8718 1165 1 32542507 32542507 C A intronic TMEM39B NA NA NA intronic ENSG00000121775 NA NA NA NA NA 1p35.1 NA Name=EBF NA NA rs4317856 0.11 0.11 0.085 0.155551 0.0567 0.2341 0.1988 0.0537 0.2832 0.06 0.23 0.1 0.04 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04015 NA NA 0.071653 0.049133 NA 0.145 NA 4.871647 1165 12 124172731 124172731 G A intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA Name=BATF,MEF2A,IRF4_(M-17),BCL11A,NFKB,SRF,JunD NA NA rs7313032 0.33 0.33 0.327 0.336062 0.3748 0.0605 0.3012 0.5643 0.2965 0.38 0.06 0.32 0.57 0.3577 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092159 NA NA 0.396047 0.556741 NA 0.239 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114236.2;CLNDSDB=.;CLNDSDBID=. 4.871453 1165 19 58962958 58962958 C T upstream ZNF324B NA NA NA upstream ENSG00000249471 NA NA NA NA NA 19q13.43 NA Name=E2F4,POU2F2,GABP,TAF1,SREBP1,ETS1,NF-YA,Znf143_(16618-1-AP),SP2_(SC-643),YY1_(C-20),Pol2,SP1,Mxi1_(bHLH),Pol2(phosphoS2),NF-YB,Oct-2,Max,ELF1_(SC-631),CHD2_(N-1250),HA-E2F1,Pbx3,E2F1,Pol2-4H8,c-Fos,RFX5_(N-494),NANOG_(SC-33759),YY1,Egr-1,SIX5,ZBTB7A_(SC-34508),c-Myc,CCNT2,HEY1,TBP,IRF1,Nrf1,USF-1 Name=148 NA rs893188 0.26 0.26 0.228 0.218251 0.2594 0.4236 0.1571 0.0779 0.1973 0.27 0.45 0.18 0.08 0.2533 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516902 NA NA 0.282521 0.099886 NA 0.188 NA 4.8714456 1165 5 145523105 145523105 G A exonic LARS NA synonymous SNV LARS:NM_020117:exon19:c.C1747T:p.L583L exonic ENSG00000133706 NA synonymous SNV ENSG00000133706:ENST00000274562:exon18:c.C1666T:p.L556L,ENSG00000133706:ENST00000510191:exon18:c.C1585T:p.L529L,ENSG00000133706:ENST00000545646:exon18:c.C1609T:p.L537L,ENSG00000133706:ENST00000394434:exon19:c.C1747T:p.L583L NA NA 5q32 NA NA NA NA rs11540217 0.2 0.2 0.17 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2641 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086287 NA NA 0.278721 0.060145 NA 0.268 NA 4.8713456 1165 5 145543972 145543972 G A exonic LARS NA synonymous SNV LARS:NM_020117:exon6:c.C495T:p.G165G exonic ENSG00000133706 NA synonymous SNV ENSG00000133706:ENST00000274562:exon5:c.C414T:p.G138G,ENSG00000133706:ENST00000510191:exon5:c.C333T:p.G111G,ENSG00000133706:ENST00000545646:exon5:c.C357T:p.G119G,ENSG00000133706:ENST00000394434:exon6:c.C495T:p.G165G NA NA 5q32 NA NA NA NA rs3763373 0.2 0.2 0.17 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.264 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050479 NA NA 0.279186 0.060372 ID=COSM149968;OCCURENCE=1(stomach) 0.268 NA 4.8709806 1165 19 36302921 36302921 T C exonic PRODH2 NA synonymous SNV PRODH2:NM_021232:exon5:c.A768G:p.P256P exonic ENSG00000250799 NA synonymous SNV ENSG00000250799:ENST00000301175:exon5:c.A768G:p.P256P NA NA 19q13.12 NA NA NA NA rs12462360 0.26 0.26 0.22 0.232029 0.2664 0.3194 0.2752 0.1377 0.2035 0.27 0.34 0.27 0.13 0.2622 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53051 NA NA 0.267093 0.147526 NA 0.239 NA 4.8709736 1165 8 81471733 81471733 T C intergenic ZBTB10,ZNF704 dist=33233;dist=68953 NA NA ncRNA_exonic ENSG00000188856 NA NA NA Score=817;Name=lod=2780 NA 8q21.13 NA NA NA NA rs141315498 0.05 0.05 0.044 0.0593051 0.0338 0.1022 0.0418 0.0068 0.1247 0.03 0.11 0.05 0.01 0.0579 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882067 NA 0.39 0.037477 0.020218 NA 0.036 NA 4.870823 1165 2 210044256 210044256 G C intergenic PTH2R,MAP2 dist=685025;dist=244515 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=622;Name=lod=450 NA 2q34 NA NA NA NA rs17738731 0.07 0.07 0.074 0.061901 0.1292 NA 0.0922 0.0318 0.0757 0.13 NA 0.11 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095411 NA NA NA NA NA 0.087 NA 4.8708 1165 9 100008390 100008390 G A ncRNA_exonic LOC100499484,LOC100499484-C9ORF174 NA NA NA ncRNA_exonic ENSG00000254483,ENSG00000254876,ENSG00000255036 NA NA NA Score=498;Name=lod=141 NA 9q22.33 NA NA NA NA rs7020002 0.88 0.88 0.884 0.862021 0.7962 0.9425 0.8012 0.9644 0.7515 0.81 0.95 0.82 0.94 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.748781 1.748781 NA NA NA NA 0.848 NA 4.8704666 1165 6 131505745 131505745 A G intronic AKAP7 NA NA NA ncRNA_exonic ENSG00000218857 NA NA NA Score=739;Name=lod=1339 NA 6q23.2 NA NA NA NA rs7768335 0.53 0.53 0.541 0.557508 0.4632 0.6935 0.4323 0.5189 0.6554 0.47 0.7 0.43 0.49 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661002 NA NA NA NA NA 0.413 NA 4.8701333 1165 12 16553361 16553361 G A intergenic MGST1,LMO3 dist=23238;dist=147945 NA NA ncRNA_exonic ENSG00000256238 NA NA NA Score=925;Name=lod=7683 NA 12p12.3 NA NA NA NA rs57886885 0.23 0.23 0.199 0.233427 0.1302 0.4345 0.255 0.177 0.1933 0.12 0.42 0.24 0.15 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404109 NA NA NA NA NA 0.239 NA 4.8698 1165 8 22926498 22926498 G A ncRNA_UTR5 TNFRSF10B NA NA NA ncRNA_UTR5 ENSG00000120889 NA NA NA NA NA 8p21.3 NA Name=eGFP-JunD,Pol2(phosphoS2),Pol2,Mxi1_(bHLH),SP1,POU2F2,TAF1,E2F6_(H-50),GTF2F1_(RAP-74),CTCF,Oct-2,Max,Pol2-4H8,Pol2(b),JunD,IRF1,TBP,HEY1,NFKB,c-Myc NA NA rs11135695 0.26 0.26 0.278 0.252995 0.4125 0.0853 0.2536 0.2337 0.2873 0.41 0.09 0.26 0.22 0.3847 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145001 NA NA NA NA NA 0.428 NA 4.8694666 1165 2 133402607 133402607 C T UTR3 LYPD1 NM_144586:c.*1011G>A,NM_001077427:c.*1011G>A NA NA UTR3 ENSG00000150551 ENST00000397463:c.*1011G>A NA NA NA NA 2q21.2 NA NA Name=2 NA rs1131671 0.45 0.45 0.425 0.474241 0.4642 0.3363 0.5 0.5514 0.5041 0.46 0.35 0.44 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844335 NA NA NA NA NA 0.384 NA 4.8691334 1165 10 97006855 97006855 T G intronic PDLIM1 NA NA NA intronic ENSG00000107438 NA NA NA NA NA 10q24.1 NA Name=CTCF NA NA rs17525659 0.07 0.07 0.058 0.0485224 0.1312 0.001 0.1023 0.0076 0.0297 0.13 0.0035 0.12 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372601 NA NA NA NA NA 0.101 NA 4.8688 1165 14 35857714 35857714 C A intergenic PSMA6,NFKBIA dist=71032;dist=13002 NA NA ncRNA_exonic ENSG00000240023 NA NA NA Score=803;Name=lod=2450 NA 14q13.2 NA NA NA NA rs75426604 0.11 0.11 0.095 0.129193 0.1312 0.0238 0.098 0.1634 0.2117 0.12 0.03 0.1 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558327 NA NA NA NA NA 0.116 NA 4.8688 1165 8 95690579 95690579 T C exonic ESRP1 NA synonymous SNV ESRP1:NM_001034915:exon13:c.T1788C:p.N596N,ESRP1:NM_001122825:exon13:c.T1800C:p.N600N,ESRP1:NM_001122826:exon13:c.T1788C:p.N596N,ESRP1:NM_001122827:exon13:c.T1788C:p.N596N,ESRP1:NM_017697:exon13:c.T1800C:p.N600N exonic ENSG00000104413 NA synonymous SNV ENSG00000104413:ENST00000517610:exon10:c.T1377C:p.N459N,ENSG00000104413:ENST00000358397:exon13:c.T1788C:p.N596N,ENSG00000104413:ENST00000423620:exon13:c.T1788C:p.N596N,ENSG00000104413:ENST00000433389:exon13:c.T1800C:p.N600N,ENSG00000104413:ENST00000454170:exon13:c.T1800C:p.N600N Score=531;Name=lod=192 NA 8q22.1 NA NA NA NA rs12677519 0.52 0.52 0.51 0.492412 0.6223 0.5407 0.5346 0.1914 0.6861 0.64 0.54 0.56 0.26 0.5759 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143911 NA NA 0.599929 0.268275 NA 0.536 NA 4.8685376 1165 5 147510866 147510866 T C exonic SPINK5 NA synonymous SNV SPINK5:NM_006846:exon31:c.T3009C:p.G1003G,SPINK5:NM_001127698:exon32:c.T3099C:p.G1033G exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon31:c.T3009C:p.G1003G,ENSG00000133710:ENST00000359874:exon32:c.T3099C:p.G1033G Score=469;Name=lod=107 NA 5q32 NA NA NA NA rs2400478 0.51 0.51 0.485 0.509185 0.5924 0.4821 0.6398 0.3903 0.5194 0.56 0.46 0.59 0.43 0.5888 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388575 NA NA 0.617029 0.438696 ID=COSM149978,COSM149977;OCCURENCE=1(stomach) 0.478 NA 4.8684376 1165 7 107880612 107880612 A G UTR5 NRCAM NM_001193584:c.-104T>C,NM_005010:c.-104T>C,NM_001193582:c.-104T>C,NM_001037132:c.-104T>C,NM_001193583:c.-104T>C NA NA UTR5 ENSG00000091129 ENST00000413765:c.-104T>C,ENST00000379028:c.-104T>C,ENST00000351718:c.-104T>C,ENST00000379024:c.-104T>C,ENST00000379022:c.-104T>C,ENST00000417701:c.-104T>C,ENST00000442580:c.-104T>C,ENST00000456431:c.-104T>C,ENST00000419936:c.-104T>C,ENST00000418239:c.-104T>C NA NA Score=436;Name=lod=79 NA 7q31.1 NA NA NA NA rs1269634 0.48 0.48 0.429 0.451677 0.4652 0.8304 0.5548 0.0794 0.4775 0.46 0.82 0.52 0.09 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.191244 NA NA NA NA NA 0.333 NA 4.8681334 1165 17 49231627 49231627 G A UTR5 NME1 NM_198175:c.-108G>A NA NA UTR5 ENSG00000011052,ENSG00000239672 ENST00000555572:c.-108G>A;ENST00000336097:c.-108G>A,ENST00000480143:c.-108G>A,ENST00000013034:c.-108G>A,ENST00000456492:c.-108G>A NA NA NA NA 17q21.33 NA NA Name=26 NA rs11556835 0.51 0.51 0.477 0.489018 0.4652 0.4008 0.4611 0.7065 0.3303 0.47 0.42 0.52 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153009 NA NA NA NA NA 0.543 NA 4.8681334 1165 1 209965587 209965587 G C intronic IRF6 NA NA NA intronic ENSG00000117595 NA NA NA NA NA 1q32.2 NA Name=STAT3 Name=6 NA rs2235375 0.4 0.4 0.366 0.405152 0.3608 0.5833 0.4798 0.2474 0.4274 0.37 0.57 0.44 0.24 0.4027 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572555 NA NA 0.368372 0.298003 NA 0.464 NA 4.868128 1165 14 107013129 107013129 A C intergenic LINC00221,NONE dist=61600;dist=NONE NA NA exonic ENSG00000211965 NA nonsynonymous SNV ENSG00000211965:ENST00000390625:exon2:c.T166G:p.F56V Score=471;Name=lod=109 NA 14q32.33 NA NA NA NA rs2073674 0.39 0.39 0.355 0.392572 0.3151 0.4246 0.304 0.5234 0.3252 0.32 0.41 0.3 0.53 0.3406 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.948105 NA 1 0.309605 0.495481 NA 0.341 NA 4.8680284 1165 21 46011751 46011751 C T exonic KRTAP10-6 NA synonymous SNV KRTAP10-6:NM_198688:exon1:c.G615A:p.T205T exonic ENSG00000188155 NA synonymous SNV ENSG00000188155:ENST00000400368:exon1:c.G615A:p.T205T NA NA 21q22.3 NA NA NA NA rs233305 0.72 0.72 0.78 NA NA NA NA NA NA 0.85 0.69 0.83 0.46 0.7987 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08938 NA NA NA NA NA 0.391 NA 4.8679666 1165 6 31243578 31243578 G A intergenic HLA-C,HLA-B dist=3665;dist=78071 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=612;Name=lod=411 NA 6p21.33 NA NA NA NA rs73390981 0.1 0.1 0.075 0.0996406 0.1322 0.0367 0.1744 0.0946 0.0849 0.13 0.05 0.18 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18005 NA NA NA NA NA 0.065 NA 4.8678 1165 9 138683798 138683798 C T intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA Name=3 NA rs41310949 0.07 0.07 0.065 0.0894569 0.1322 0.001 0.0836 0.0514 0.1922 0.14 NA 0.1 0.04 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034434 NA NA NA NA NA 0.13 NA 4.8678 1165 19 38985308 38985308 G A intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA Name=4 NA rs75563090 0.04 0.04 0.031 0.0315495 0.0557 0.0258 0.0331 0.0242 0.0215 0.06 0.01 0.05 0.02 0.0391 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708375 NA NA 0.037951 0.023626 NA 0.014 NA 4.867249 1165 15 45456764 45456764 A G intronic DUOX1 NA NA NA ncRNA_intronic ENSG00000259539 NA NA NA NA NA 15q21.1 NA Name=CEBPB NA NA rs1648313 0.69 0.69 0.692 0.71226 0.4662 0.9246 0.6758 0.8139 0.635 0.45 0.97 0.63 0.77 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975277 NA NA NA NA NA 0.63 NA 4.8671333 1165 15 66853339 66853339 C T intronic LCTL NA NA NA intronic ENSG00000188501 NA NA NA Score=487;Name=lod=127 NA 15q22.31 NA NA NA NA rs75625666 0.05 0.05 0.035 0.0595048 0.0427 0.0546 0.0317 0.0726 0.0838 0.04 0.04 0.04 0.07 0.0495 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341252 NA NA 0.040823 0.06179 NA 0.022 NA 4.866977 1165 1 16069644 16069644 C T exonic TMEM82 NA synonymous SNV TMEM82:NM_001013641:exon3:c.C291T:p.L97L exonic ENSG00000162460 NA synonymous SNV ENSG00000162460:ENST00000375782:exon3:c.C291T:p.L97L NA NA 1p36.21 NA NA NA NA rs11584945 0.19 0.19 0.201 0.185304 0.2883 0.0337 0.1744 0.23 0.183 0.28 0.04 0.2 0.22 0.234 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441404 1.441404 NA 0.27739 0.208901 NA 0.232 NA 4.8669766 1165 6 29911893 29911893 C T intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 Name=2 NA rs9260172 NA NA 0.321 0.386182 0.4026 0.4514 0.4337 0.3623 0.3006 NA NA NA NA 0.3763 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350625 NA NA 0.35419 0.280212 NA 0.022 NA 4.86691 1165 11 130417117 130417117 G C intergenic ADAMTS15,C11orf44 dist=70578;dist=125734 NA NA ncRNA_exonic ENSG00000236616 NA NA NA Score=385;Name=lod=49 NA 11q24.3 NA NA NA NA rs2703751 0.15 0.15 0.163 0.140775 0.1332 0.001 0.1066 0.3374 0.0511 0.14 0.0017 0.11 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090478 NA NA NA NA NA 0.145 NA 4.8668 1165 8 134062327 134062327 T G intronic SLA,TG NA NA NA intronic ENSG00000042832,ENSG00000155926 NA NA NA NA NA 8q24.22 NA NA Name=4 NA rs2702972 0.25 0.25 0.225 0.278554 0.1332 0.5288 0.2839 0.1067 0.3988 0.12 0.56 0.26 0.1 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405104 NA NA NA NA NA 0.167 NA 4.8668 1165 18 22901967 22901967 T C intronic ZNF521 NA NA NA intronic ENSG00000198795 NA NA NA Score=613;Name=lod=415 NA 18q11.2 NA NA NA NA rs45590038 0.02 0.02 0.018 0.0181709 0.0417 0.001 0.0173 NA 0.0368 0.04 NA 0.03 NA 0.0401 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.931279 2.931279 NA 0.051512 0.008398 NA 0.022 NA 4.866688 1165 2 232072912 232072912 T C exonic ARMC9 NA synonymous SNV ARMC9:NM_025139:exon3:c.T124C:p.L42L exonic ENSG00000135931 NA synonymous SNV ENSG00000135931:ENST00000349938:exon3:c.T124C:p.L42L,ENSG00000135931:ENST00000440107:exon3:c.T124C:p.L42L NA NA 2q37.1 NA NA NA NA rs11558174 0.27 0.27 0.245 0.248003 0.2853 0.1409 0.2349 0.3563 0.183 0.29 0.17 0.28 0.34 0.259 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720992 NA NA 0.255698 0.363533 ID=COSM149093,COSM149092;OCCURENCE=1(stomach) 0.319 NA 4.8666686 1165 17 45821844 45821844 C G intronic TBX21 NA NA NA intronic ENSG00000073861 NA NA NA Score=618;Name=lod=432 NA 17q21.32 NA NA NA NA rs17250953 0.02 0.02 0.011 0.0175719 0.0388 NA 0.049 0.0023 0.0123 0.03 NA 0.06 NA 0.0398 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486942 1.486942 NA 0.054767 0.012483 NA NA NA 4.866633 1165 19 56423893 56423893 G A exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon5:c.C1290T:p.T430T exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon5:c.C1290T:p.T430T,ENSG00000173572:ENST00000588751:exon5:c.C1290T:p.T430T Score=336;Name=lod=31 NA 19q13.43 NA NA NA NA rs303998 0.62 0.62 0.629 0.648762 0.5905 0.7302 0.5058 0.6853 0.6769 0.58 0.71 0.53 0.67 0.6011 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332538 NA NA 0.608837 0.664775 NA 0.725 NA 4.8662296 1165 16 53524308 53524308 G C UTR3 RBL2 NM_005611:c.*96G>C NA NA UTR3 ENSG00000103479 ENST00000262133:c.*96G>C,ENST00000544545:c.*96G>C NA NA NA NA 16q12.2 NA NA Name=2 NA rs3929 0.45 0.45 0.481 0.498802 0.4672 0.1835 0.4035 0.823 0.4857 0.45 0.15 0.45 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071484 NA NA NA NA NA 0.616 NA 4.8661334 1165 4 100266112 100266112 C T exonic ADH1C NA unknown UNKNOWN exonic ENSG00000248144 NA unknown UNKNOWN Score=399;Name=lod=56 NA 4q23 NA NA NA NA rs1693425 0.24 0.24 0.198 0.214457 0.4046 0.0764 0.2709 0.0998 0.2761 0.42 0.07 0.31 0.12 0.343 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650355 NA NA 0.386279 0.149796 NA 0.232 NA 4.866121 1165 8 134062331 134062331 G A intronic SLA,TG NA NA NA intronic ENSG00000042832,ENSG00000155926 NA NA NA NA NA 8q24.22 NA NA Name=4 NA rs2741194 0.24 0.24 0.214 0.269569 0.1342 0.4851 0.2839 0.1067 0.3967 0.12 0.52 0.26 0.1 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022753 NA NA NA NA NA 0.138 NA 4.8658 1165 11 64950843 64950843 A T intronic CAPN1 NA NA NA UTR5 ENSG00000014216 ENST00000526468:c.-80A>T NA NA NA NA 11q13.1 NA NA Name=17 NA rs2277307 0.26 0.26 0.234 0.244609 0.3012 0.2966 0.4035 0.053 0.2791 0.31 0.28 0.35 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031231 NA NA NA NA NA 0.29 NA 4.8654667 1165 1 35470877 35470877 A T intronic ZMYM6 NA NA NA intronic ENSG00000163867,ENSG00000271741 NA NA NA Score=361;Name=lod=39 NA 1p34.3 NA NA NA NA rs10158284 0.14 0.14 0.141 0.13139 0.0258 0.381 0.0591 0.0923 0.0869 0.02 0.38 0.06 0.09 0.08 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583328 NA NA 0.028953 0.082842 NA 0.072 NA 4.865247 1165 12 62274027 62274027 C T intronic FAM19A2 NA NA NA ncRNA_exonic ENSG00000257528 NA NA NA Score=652;Name=lod=593 NA 12q14.1 NA NA NA NA rs7311923 0.36 0.36 0.33 0.351438 0.4682 0.3323 0.4222 0.1823 0.4294 0.49 0.32 0.41 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014612 NA NA NA NA NA 0.268 NA 4.8651333 1165 X 1422868 1422868 G A exonic CSF2RA NA synonymous SNV CSF2RA:NM_001161532:exon9:c.G600A:p.V200V,CSF2RA:NM_001161530:exon10:c.G1101A:p.V367V,CSF2RA:NM_001161531:exon11:c.G999A:p.V333V,CSF2RA:NM_006140:exon11:c.G999A:p.V333V,CSF2RA:NM_172245:exon11:c.G999A:p.V333V,CSF2RA:NM_001161529:exon12:c.G999A:p.V333V exonic ENSG00000198223 NA synonymous SNV ENSG00000198223:ENST00000501036:exon9:c.G600A:p.V200V,ENSG00000198223:ENST00000417535:exon10:c.G1101A:p.V367V,ENSG00000198223:ENST00000381509:exon11:c.G999A:p.V333V,ENSG00000198223:ENST00000381524:exon11:c.G999A:p.V333V,ENSG00000198223:ENST00000381529:exon11:c.G999A:p.V333V,ENSG00000198223:ENST00000432318:exon12:c.G999A:p.V333V NA NA Xp22.33 NA NA NA NA rs28460440 0.34 0.34 0.32591 NA NA NA NA NA NA 0.4 0.31 0.32 0.29 0.3715 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710198 NA NA 0.430051 0.281888 NA 0.348 NA 4.8651156 1166 2 220353013 220353013 G A exonic SPEG NA synonymous SNV SPEG:NM_005876:exon32:c.G7839A:p.P2613P exonic ENSG00000072195 NA synonymous SNV ENSG00000072195:ENST00000312358:exon32:c.G7839A:p.P2613P NA NA 2q35 NA NA NA NA rs875098 0.24 0.24 0.249 0.286342 0.2724 0.1468 0.2709 0.2905 0.4499 0.27 0.16 0.29 0.26 0.2761 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56904 NA NA 0.253271 0.262671 NA 0.159 NA 4.8648956 1166 3 170723664 170723664 A G intronic SLC2A2 NA NA NA intronic ENSG00000163581 NA NA NA NA NA 3q26.2 NA NA Name=54 NA rs2292622 0.18 0.18 0.182 0.199481 0.1352 0.0169 0.1715 0.4289 0.1636 0.14 0.02 0.19 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237586 NA NA NA NA NA 0.333 NA 4.8648 1166 3 170723668 170723668 C T intronic SLC2A2 NA NA NA intronic ENSG00000163581 NA NA NA NA NA 3q26.2 NA NA Name=54 NA rs2292621 0.17 0.17 0.183 0.195288 0.1352 0.0169 0.17 0.4138 0.1636 0.14 0.02 0.19 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640487 NA NA NA NA NA 0.333 NA 4.8648 1166 8 29886157 29886157 G A intergenic MIR3148,MIR548O2 dist=71293;dist=34101 NA NA ncRNA_exonic ENSG00000254013 NA NA NA Score=600;Name=lod=367 NA 8p12 NA NA NA NA rs112865584 0.06 0.06 0.063 0.0601038 0.1352 0.002 0.0519 0.0076 0.1196 0.14 NA 0.04 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535109 NA NA NA NA NA 0.051 NA 4.8648 1166 12 51203376 51203376 T C intronic ATF1 NA NA NA intronic ENSG00000123268 NA NA NA Score=559;Name=lod=250 NA 12q13.12 NA Name=GATA-1 NA NA rs4986838 0.32 0.32 0.302 0.318291 0.3877 0.2619 0.2608 0.292 0.3814 0.38 0.31 0.26 0.29 0.3439 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19684 NA NA 0.403605 0.307989 NA 0.297 NA 4.864795 1166 22 30138497 30138497 G A intronic ZMAT5 NA NA NA intronic ENSG00000100319 NA NA NA NA NA 22q12.2 NA NA Name=4 NA rs60102307 0.03 0.03 0.033 0.0403355 0.0358 0.0337 0.0202 0.0227 0.09 0.04 0.03 0.03 0.03 0.0522 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479562 NA NA 0.047442 0.02837 NA 0.036 NA 4.864558 1166 5 1202000 1202000 C T intronic SLC6A19 NA NA NA intronic ENSG00000174358 NA NA NA NA NA 5p15.33 NA NA Name=4 NA rs13188787 0.02 0.02 0.024 0.0179712 0.0427 NA 0.0202 0.0061 0.0256 0.04 NA 0.02 0.02 0.0439 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136084 NA NA 0.048846 0.007081 NA 0.014 NA 4.864554 1166 13 75884290 75884290 G A intronic TBC1D4 NA NA NA intronic ENSG00000136111 NA NA NA Score=474;Name=lod=113 NA 13q22.2 NA NA NA NA rs2297203 0.26 0.26 0.263 0.226038 0.3748 0.1865 0.3732 0.0809 0.2055 0.37 0.19 0.37 0.11 0.3575 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.563268 1.563268 NA 0.403241 0.139729 ID=COSM147701;OCCURENCE=1(stomach) 0.312 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118588.2;CLNDSDB=.;CLNDSDBID=. 4.864459 1166 10 131967693 131967693 T A intronic GLRX3 NA NA NA intronic ENSG00000108010 NA NA NA Score=645;Name=lod=559 NA 10q26.3 NA NA Name=41 NA rs17297984 0.27 0.27 0.25 0.280551 0.4036 0.1915 0.2291 0.1884 0.407 0.41 0.17 0.23 0.2 0.3457 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.905625 1.905625 NA 0.386512 0.204948 NA 0.319 NA 4.864188 1166 15 78200707 78200707 G A intergenic LOC253044,LOC645752 dist=259126;dist=5852 NA NA intergenic ENSG00000260139,ENSG00000260776 dist=3691;dist=5852 NA NA NA NA 15q24.3 NA Name=CTCF_(SC-5916),ZNF263,c-Myc,PAX5-C20,CTCF_(C-20),CTCFL_(SC-98982),SMC3_(ab9263),CTCF Name=103 NA rs12910067 0.31 0.31 0.251 0.256989 0.4692 0.1597 0.2695 0.1891 0.2219 0.46 0.18 0.31 0.21 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.211409 NA NA NA NA NA 0.37 NA 4.8641334 1166 5 77081797 77081797 G A intergenic TBCA,AP3B1 dist=9612;dist=216353 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs62364880 0.06 0.06 0.053 0.0455272 0.1362 NA 0.0836 0.0038 0.0286 0.14 NA 0.08 0.0041 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282161 NA NA NA NA NA 0.022 NA 4.8638 1166 5 177398968 177398968 A T intergenic LOC728554,PROP1 dist=87699;dist=20268 NA NA ncRNA_exonic ENSG00000249129 NA NA NA Score=730;Name=lod=1231 NA 5q35.3 NA NA NA NA rs7703216 0.12 0.12 0.103 0.117013 0.1362 0.2024 0.0879 0.0779 0.0828 0.12 0.18 0.09 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.213181 NA NA NA NA NA 0.116 NA 4.8638 1166 16 2105335 2105335 C G intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs2516734 0.15 0.15 0.145 0.153355 0.1362 NA 0.1513 0.3744 0.0317 0.13 NA 0.14 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72092 NA NA NA NA NA 0.232 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome;CLNREVSTAT=not;CLNACC=RCV000043225.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1220:C0041341:191100:7199000 4.8638 1166 16 71779310 71779310 G T intronic AP1G1 NA NA NA intronic ENSG00000166747 NA NA NA Score=272;Name=lod=17 NA 16q22.2 NA NA NA NA rs74980679 0.08 0.08 0.069 0.0740815 0.1362 0.0417 0.0591 0.0098 0.1411 0.15 0.05 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187269 NA NA NA NA NA 0.043 NA 4.8638 1166 6 169640511 169640511 G A intronic THBS2 NA NA NA intronic ENSG00000186340 NA NA NA NA NA 6q27 NA NA Name=5 NA rs56132110 0.02 0.02 0.02 0.0141773 0.0507 NA 0.0202 0.0008 0.0051 0.05 NA 0.02 NA 0.0309 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799271 NA NA 0.054651 0.009759 NA NA NA 4.863749 1166 2 220354365 220354365 C T exonic SPEG NA synonymous SNV SPEG:NM_005876:exon36:c.C8625T:p.F2875F exonic ENSG00000072195 NA synonymous SNV ENSG00000072195:ENST00000312358:exon36:c.C8625T:p.F2875F NA NA 2q35 NA NA NA NA rs56132883 0.24 0.24 0.221 0.286542 0.2734 0.1468 0.2723 0.2905 0.4489 0.27 0.16 0.3 0.26 0.2751 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926339 NA NA 0.254578 0.261358 NA 0.058 NA 4.8635886 1166 10 100148308 100148308 T G intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA Name=CTCF,CTCF_(SC-5916) Name=9 NA rs2147895 0.48 0.48 0.465 0.514577 0.334 0.5744 0.4755 0.6082 0.5399 0.34 0.58 0.45 0.6 0.4515 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847321 NA NA 0.351024 0.548042 NA 0.391 NA 4.863476 1166 8 29885706 29885706 C T intergenic MIR3148,MIR548O2 dist=70842;dist=34552 NA NA ncRNA_exonic ENSG00000254013 NA NA NA Score=798;Name=lod=2339 NA 8p12 NA NA NA NA rs17489292 0.06 0.06 0.06 0.067492 0.1372 0.002 0.0548 0.0325 0.1196 0.14 NA 0.04 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336716 NA NA NA NA NA 0.058 NA 4.8628 1166 1 42878153 42878153 G A intronic RIMKLA NA NA NA ncRNA_exonic ENSG00000235002 NA NA NA Score=732;Name=lod=1263 NA 1p34.2 NA NA NA NA rs9803894 0.33 0.33 0.32 0.312101 0.4712 0.1161 0.3804 0.2958 0.3241 0.47 0.13 0.42 0.28 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898352 NA NA NA NA NA 0.341 NA 4.8621333 1166 9 75270833 75270833 A T intronic TMC1 NA NA NA ncRNA_exonic ENSG00000236862 NA NA NA Score=651;Name=lod=588 NA 9q21.13 NA NA NA NA rs7852383 0.5 0.5 0.489 0.503195 0.4712 0.4435 0.4726 0.6543 0.4151 0.46 0.47 0.49 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062741 NA NA NA NA NA 0.478 NA 4.8621333 1166 6 38723670 38723670 A G intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA Name=c-Fos NA NA rs7773138 0.14 0.14 0.121 0.123602 0.1382 0.0218 0.2478 0.1876 0.0389 0.14 0.02 0.22 0.19 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.032061 NA NA NA NA NA 0.217 NA 4.8618 1166 11 35882499 35882499 C T intergenic TRIM44,LDLRAD3 dist=51569;dist=83113 NA NA ncRNA_exonic ENSG00000186082 NA NA NA Score=578;Name=lod=299 NA 11p13 NA NA NA NA rs60468632 0.15 0.15 0.123 0.167931 0.1382 0.2202 0.1354 0.0749 0.2935 0.15 0.21 0.15 0.08 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580895 NA 0.04 NA NA NA 0.123 NA 4.8618 1166 20 60962624 60962624 T C intronic RPS21 NA NA NA intronic ENSG00000171858 NA NA NA NA NA 20q13.33 NA Name=Pol2,HA-E2F1,CTCF_(SC-5916) Name=7 NA rs755726 0.37 0.37 0.377 0.406749 0.3926 0.1558 0.3905 0.5711 0.4693 0.39 0.11 0.43 0.6 0.3769 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109638 NA NA 0.368721 0.532229 NA 0.471 NA 4.861779 1166 11 65063553 65063553 A T intronic POLA2 NA NA NA UTR3 ENSG00000014138 ENST00000527850:c.*1500A>T,ENST00000541089:c.*29A>T NA NA NA NA 11q13.1 NA Name=SP1,FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs626555 0.2 0.2 0.195 0.230232 0.1392 0.0645 0.1628 0.4713 0.2168 0.13 0.08 0.17 0.46 0.1662 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457699 NA NA NA NA NA 0.246 NA 4.8612667 1166 9 128026278 128026278 G T intronic GAPVD1 NA NA NA ncRNA_exonic ENSG00000214593 NA NA NA Score=739;Name=lod=1343 NA 9q33.3 NA NA NA NA rs35216121 0.48 0.48 0.518 0.483626 0.4722 0.4772 0.3631 0.5371 0.5153 0.49 0.47 0.34 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238633 NA NA NA NA NA 0.442 NA 4.8611333 1166 1 45806933 45806933 G A intronic TOE1 NA NA NA intronic ENSG00000132773 NA NA NA NA NA 1p34.1 NA Name=Pol2 NA NA rs61789859 0.03 0.03 0.039 0.0255591 0.0447 0.001 0.0432 0.0303 0.0123 0.05 NA 0.04 0.05 0.0388 0.056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51629 NA NA 0.055465 0.043123 NA 0.029 NA 4.861035 1166 9 139311471 139311471 C T exonic PMPCA NA synonymous SNV PMPCA:NM_015160:exon7:c.C702T:p.N234N exonic ENSG00000165688 NA synonymous SNV ENSG00000165688:ENST00000399219:exon6:c.C309T:p.N103N,ENSG00000165688:ENST00000371717:exon7:c.C702T:p.N234N NA NA 9q34.3 NA NA NA NA rs3812581 0.2 0.2 0.178 0.196286 0.2744 0.1637 0.3069 0.0598 0.2556 0.27 0.16 0.26 0.07 0.2487 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19308 NA NA 0.282674 0.094871 NA 0.203 NA 4.8608926 1166 6 71318507 71318507 A T intergenic C6orf57,SMAP1 dist=19901;dist=58972 NA NA ncRNA_exonic ENSG00000232389 NA NA NA Score=772;Name=lod=1830 NA 6q13 NA NA NA NA rs111736257 0.09 0.09 0.083 0.0874601 0.1392 0.0288 0.0879 0.0514 0.1431 0.15 0.03 0.1 0.06 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.287827 1.287827 NA NA NA NA 0.036 NA 4.8608 1166 6 80036415 80036415 G A intergenic LOC100288198,LCA5 dist=89898;dist=158293 NA NA ncRNA_exonic ENSG00000217786 NA NA NA Score=474;Name=lod=113 NA 6q14.1 NA NA NA NA rs7770603 0.13 0.13 0.124 0.13738 0.1392 0.0734 0.0937 0.1747 0.182 0.12 0.08 0.09 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13198 NA NA NA NA NA 0.145 NA 4.8608 1166 6 123127597 123127597 G A intronic SMPDL3A NA NA NA intronic ENSG00000172594 NA NA NA NA NA 6q22.31 NA NA Name=42 NA rs13192569 0.13 0.13 0.128 0.163139 0.1392 0.1687 0.0821 0.1694 0.2311 0.15 0.15 0.08 0.11 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895283 NA NA NA NA NA 0.087 NA 4.8608 1166 3 160942667 160942667 T C intronic NMD3 NA NA NA intronic ENSG00000169251 NA NA NA NA NA 3q26.1 NA NA Name=6 NA rs76866405 0.09 0.09 0.106 0.127396 0.0308 0.122 0.0764 0.1793 0.1984 0.03 0.12 0.05 0.2 0.0727 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086412 NA NA 0.036304 0.136033 NA 0.145 NA 4.860196 1166 8 76476396 76476396 G A UTR3 HNF4G NM_004133:c.*65G>A NA NA UTR3 ENSG00000164749 ENST00000354370:c.*65G>A,ENST00000396423:c.*65G>A NA NA Score=397;Name=lod=55 NA 8q21.11 NA NA NA NA rs1805100 0.5 0.5 0.537 0.497005 0.4732 0.3214 0.3775 0.7731 0.4141 0.48 0.36 0.38 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.174722 2.174722 NA NA NA NA 0.493 NA 4.8601334 1166 1 184536171 184536171 T C intronic C1orf21 NA NA NA ncRNA_exonic ENSG00000232036 NA NA NA Score=511;Name=lod=159 NA 1q25.3 NA NA NA NA rs749214 0.61 0.61 0.624 0.63139 0.4732 0.5913 0.5908 0.9508 0.4325 0.47 0.55 0.56 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136535 NA NA NA NA NA 0.616 NA 4.8601333 1166 3 49813013 49813013 C T intronic IP6K1 NA NA NA ncRNA_exonic ENSG00000244730 NA NA NA Score=693;Name=lod=877 NA 3p21.31 NA NA NA NA rs34451146 0.39 0.39 0.406 0.402356 0.4732 0.1696 0.3487 0.5847 0.3609 0.46 0.18 0.34 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102899 NA NA NA NA NA 0.362 NA 4.8601333 1166 6 31239141 31239141 C T intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 NA Name=Pol2 Name=74 NA rs9264661 0.58 0.58 0.486 NA NA NA NA NA NA 0.55 0.51 0.64 0.65 0.5904 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091475 NA NA 0.54979 0.666423 NA 0.232 NA 4.85981 1166 2 136956733 136956733 T C intergenic CXCR4,THSD7B dist=81008;dist=791729 NA NA ncRNA_exonic ENSG00000227347 NA NA NA Score=671;Name=lod=713 NA 2q22.1 NA NA NA NA rs7578292 0.21 0.21 0.194 0.193291 0.1402 0.3373 0.1585 0.1233 0.2188 0.14 0.39 0.19 0.12 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34936 NA NA NA NA NA 0.232 NA 4.8598 1166 3 170213372 170213372 G T intronic SLC7A14 NA NA NA intronic ENSG00000013293,ENSG00000013297 NA NA NA Score=309;Name=lod=24 NA 3q26.2 NA NA NA NA rs11718669 0.18 0.18 0.182 0.204673 0.1402 NA 0.1095 0.5325 0.1063 0.13 NA 0.1 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266699 NA NA NA NA NA 0.283 NA 4.8598 1166 6 29912925 29912925 A G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs2735102 0.18 0.18 0.154 0.15016 0.1402 0.0873 0.121 0.2141 0.1595 0.15 0.16 0.18 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54604 NA NA NA NA NA 0.08 NA 4.8598 1166 7 149018975 149018975 T C intergenic LOC155060,ZNF777 dist=24572;dist=109479 NA NA ncRNA_exonic ENSG00000231397 NA NA NA Score=623;Name=lod=455 NA 7q36.1 NA NA NA NA rs886714 0.11 0.11 0.106 0.0942492 0.1402 NA 0.1167 0.1664 0.0307 0.15 NA 0.14 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232735 NA NA NA NA NA 0.138 NA 4.8598 1166 14 23282449 23282449 C T exonic SLC7A7 NA synonymous SNV SLC7A7:NM_001126105:exon3:c.G159A:p.S53S,SLC7A7:NM_001126106:exon3:c.G159A:p.S53S exonic ENSG00000155465 NA synonymous SNV ENSG00000155465:ENST00000397529:exon2:c.G159A:p.S53S,ENSG00000155465:ENST00000397532:exon2:c.G159A:p.S53S,ENSG00000155465:ENST00000555251:exon2:c.G159A:p.S53S,ENSG00000155465:ENST00000555911:exon2:c.G159A:p.S53S,ENSG00000155465:ENST00000556287:exon2:c.G159A:p.S53S,ENSG00000155465:ENST00000285850:exon3:c.G159A:p.S53S,ENSG00000155465:ENST00000397528:exon3:c.G159A:p.S53S,ENSG00000155465:ENST00000554758:exon3:c.G159A:p.S53S,ENSG00000155465:ENST00000555702:exon3:c.G159A:p.S53S,ENSG00000155465:ENST00000557129:exon3:c.G159A:p.S53S,ENSG00000155465:ENST00000557629:exon3:c.G159A:p.S53S,ENSG00000155465:ENST00000488800:exon5:c.G159A:p.S53S NA NA 14q11.2 Score=890;Name=V$ZID_01 NA NA NA rs1805059 0.64 0.64 0.637 0.60603 0.5964 0.7857 0.7104 0.4947 0.5072 0.6 0.8 0.7 0.48 0.6073 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.115409 NA NA 0.603372 0.482524 NA 0.493 NA 4.8595946 1166 9 130219669 130219669 C T exonic LRSAM1 NA synonymous SNV LRSAM1:NM_001005374:exon5:c.C249T:p.I83I,LRSAM1:NM_138361:exon5:c.C249T:p.I83I,LRSAM1:NM_001005373:exon6:c.C249T:p.I83I,LRSAM1:NM_001190723:exon6:c.C249T:p.I83I exonic ENSG00000148356 NA synonymous SNV ENSG00000148356:ENST00000323301:exon5:c.C249T:p.I83I,ENSG00000148356:ENST00000373322:exon5:c.C249T:p.I83I,ENSG00000148356:ENST00000300417:exon6:c.C249T:p.I83I,ENSG00000148356:ENST00000373324:exon6:c.C249T:p.I83I Score=391;Name=lod=52 NA 9q33.3 NA NA NA NA rs2243906 0.57 0.57 0.563 0.557508 0.6322 0.4137 0.6499 0.6067 0.4969 0.64 0.41 0.61 0.61 0.5868 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.542646 1.542646 NA 0.58814 0.639355 NA 0.464 NA 4.8595266 1166 19 11326125 11326125 C T exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon32:c.G4044A:p.P1348P exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon18:c.G2061A:p.P687P,ENSG00000130158:ENST00000294618:exon32:c.G4044A:p.P1348P Score=452;Name=lod=92 NA 19p13.2 NA NA NA NA rs2304154 0.49 0.49 0.473 0.452676 0.6272 0.5109 0.4899 0.2405 0.4734 0.62 0.5 0.53 0.26 0.5565 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135439 NA NA 0.623562 0.329111 NA 0.601 NA 4.8594046 1166 17 78073723 78073723 T C UTR3 CCDC40 NM_017950:c.*149T>C NA NA UTR3 ENSG00000141519 ENST00000397545:c.*149T>C NA NA NA NA 17q25.3 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs2304852 0.47 0.47 0.513 0.493011 0.4742 0.4355 0.2882 0.6263 0.5368 0.47 0.48 0.28 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543267 NA NA NA NA NA 0.449 NA 4.8591334 1166 11 5969185 5969185 A G exonic OR56A3 NA synonymous SNV OR56A3:NM_001003443:exon1:c.A609G:p.Q203Q exonic ENSG00000184478 NA synonymous SNV ENSG00000184478:ENST00000329564:exon1:c.A609G:p.Q203Q NA NA 11p15.4 NA NA NA NA rs10769378 0.22 0.22 0.202 0.195887 0.2624 0.3016 0.281 0.0598 0.1421 0.26 0.3 0.27 0.06 0.2547 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.523041 NA NA 0.290507 0.10403 NA 0.116 NA 4.8590596 1166 19 56423728 56423728 A G exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon5:c.T1455C:p.S485S exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon5:c.T1455C:p.S485S,ENSG00000173572:ENST00000588751:exon5:c.T1455C:p.S485S Score=259;Name=lod=15 NA 19q13.43 NA NA NA NA rs303999 0.64 0.64 0.636 0.664337 0.5915 0.7292 0.5086 0.733 0.6902 0.58 0.71 0.53 0.72 0.6073 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035646 NA NA 0.608837 0.70631 NA 0.681 NA 4.8590296 1166 3 113955820 113955820 G C exonic ZNF80 NA synonymous SNV ZNF80:NM_007136:exon1:c.C102G:p.S34S exonic ENSG00000174255 NA synonymous SNV ENSG00000174255:ENST00000308095:exon1:c.C102G:p.S34S,ENSG00000174255:ENST00000482457:exon1:c.C102G:p.S34S NA NA 3q13.31 NA NA NA NA rs3732780 0.32 0.32 0.318 0.311502 0.2734 0.375 0.2594 0.3593 0.2577 0.26 0.39 0.27 0.38 0.2766 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410619 NA NA 0.257791 0.343168 NA 0.268 NA 4.8588756 1166 5 159437466 159437466 C T intronic TTC1 NA NA NA intronic ENSG00000113312 NA NA NA NA NA 5q33.3 NA Name=MafF_(M8194),ZNF263 NA NA rs961265 0.2 0.2 0.183 0.199681 0.1412 0.2857 0.2781 0.146 0.1881 0.13 0.32 0.24 0.15 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376418 NA NA NA NA NA 0.174 NA 4.8588 1166 20 25141941 25141941 G A intergenic LOC284798,ENTPD6 dist=12515;dist=34398 NA NA ncRNA_exonic ENSG00000225344 NA NA NA Score=497;Name=lod=139 NA 20p11.21 NA NA NA NA rs7274923 0.18 0.18 0.163 0.221246 0.1412 0.0228 0.2882 0.3759 0.2515 0.14 0.02 0.28 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402652 NA NA NA NA NA 0.196 NA 4.8588 1166 20 25142020 25142020 G A intergenic LOC284798,ENTPD6 dist=12594;dist=34319 NA NA ncRNA_exonic ENSG00000225344 NA NA NA Score=584;Name=lod=316 NA 20p11.21 NA NA NA NA rs73904007 0.18 0.18 0.166 0.221246 0.1412 0.0228 0.2882 0.3759 0.2515 0.14 0.02 0.28 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275871 NA NA NA NA NA 0.196 NA 4.8588 1166 21 46011745 46011745 C T exonic KRTAP10-6 NA synonymous SNV KRTAP10-6:NM_198688:exon1:c.G621A:p.S207S exonic ENSG00000188155 NA synonymous SNV ENSG00000188155:ENST00000400368:exon1:c.G621A:p.S207S NA NA 21q22.3 NA NA NA NA rs233304 0.75 0.75 0.79 NA NA NA NA NA NA 0.87 0.7 0.84 0.56 0.8084 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174553 NA NA NA NA NA 0.37 NA 4.8582666 1166 6 31244151 31244151 T C intergenic HLA-C,HLA-B dist=4238;dist=77498 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=645;Name=lod=558 NA 6p21.33 NA NA NA NA rs111373731 0.15 0.15 0.135 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771855 NA NA NA NA NA 0.116 NA 4.8579 1166 6 31244298 31244298 A G intergenic HLA-C,HLA-B dist=4385;dist=77351 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=383;Name=lod=48 NA 6p21.33 NA NA NA NA rs111762561 0.15 0.15 0.11 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928444 NA NA NA NA NA NA NA 4.8579 1166 6 31244436 31244436 C G intergenic HLA-C,HLA-B dist=4523;dist=77213 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=419;Name=lod=67 NA 6p21.33 NA NA NA NA rs112613205 0.15 0.15 0.123 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594942 NA NA NA NA NA 0.116 NA 4.8579 1166 6 31245213 31245213 A G intergenic HLA-C,HLA-B dist=5300;dist=76436 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs113744451 0.15 0.15 0.126 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.471183 1.471183 NA NA NA NA 0.116 NA 4.8579 1166 6 31245309 31245309 C A intergenic HLA-C,HLA-B dist=5396;dist=76340 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs59751510 0.15 0.15 0.122 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.330482 1.330482 NA NA NA NA 0.116 NA 4.8579 1166 6 31245931 31245931 T A intergenic HLA-C,HLA-B dist=6018;dist=75718 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs77985136 0.15 0.15 0.111 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227679 NA NA NA NA NA 0.116 NA 4.8579 1166 6 31246015 31246015 C T intergenic HLA-C,HLA-B dist=6102;dist=75634 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs72855945 0.15 0.15 0.127 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122818 NA NA NA NA NA 0.116 NA 4.8579 1166 6 31246095 31246095 T C intergenic HLA-C,HLA-B dist=6182;dist=75554 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs66689394 0.15 0.15 0.114 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.09 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047985 NA NA NA NA NA 0.101 NA 4.8579 1166 6 31246100 31246100 A G intergenic HLA-C,HLA-B dist=6187;dist=75549 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs72855946 0.15 0.15 0.107 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794864 NA NA NA NA NA 0.101 NA 4.8579 1166 6 31246119 31246119 T C intergenic HLA-C,HLA-B dist=6206;dist=75530 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs73392819 0.14 0.14 0.112 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.19 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111111 NA NA NA NA NA 0.101 NA 4.8579 1166 6 31246139 31246139 T A intergenic HLA-C,HLA-B dist=6226;dist=75510 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs72855948 0.15 0.15 0.114 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311454 NA NA NA NA NA 0.029 NA 4.8579 1166 6 31246177 31246177 G A intergenic HLA-C,HLA-B dist=6264;dist=75472 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs67853874 0.15 0.15 0.13 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010174 NA NA NA NA NA 0.094 NA 4.8579 1166 6 31246410 31246410 G A intergenic HLA-C,HLA-B dist=6497;dist=75239 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=621;Name=lod=445 NA 6p21.33 NA NA NA NA rs67772234 0.15 0.15 0.128 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316786 1.316786 NA NA NA NA 0.065 NA 4.8579 1166 6 31246450 31246450 T C intergenic HLA-C,HLA-B dist=6537;dist=75199 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=621;Name=lod=445 NA 6p21.33 NA NA NA NA rs111689981 0.15 0.15 0.113 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042658 NA NA NA NA NA 0.072 NA 4.8579 1166 10 124045488 124045488 C T intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA Name=6 NA rs2181161 0.16 0.16 0.154 0.138379 0.1421 0.3006 0.0865 0.0182 0.1667 0.14 0.33 0.1 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701577 NA NA NA NA NA 0.152 NA 4.8579 1166 19 49400511 49400511 T C intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA Name=Egr-1 NA NA rs73061699 0.06 0.06 0.059 0.0551118 0.1421 0.001 0.0634 0.0106 0.0757 0.14 0.0017 0.07 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729307 NA NA NA NA NA 0.123 NA 4.8579 1166 5 16902512 16902512 A T intronic MYO10 NA NA NA ncRNA_exonic ENSG00000243538 NA NA NA Score=721;Name=lod=1136 NA 5p15.1 NA NA NA NA rs2560842 0.58 0.58 0.54 0.568291 0.4761 0.5605 0.6686 0.7398 0.3681 0.48 0.56 0.6 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31813 NA NA NA NA NA 0.464 NA 4.8572333 1166 6 30229013 30229013 A G ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 Score=764;Name=V$TCF11MAFG_01 NA NA NA rs2516707 0.34 0.34 0.301 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.41 0.3 0.3154 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.226547 NA NA 0.247693 0.279947 NA 0.37 NA 4.8570736 1166 1 120286457 120286457 G T intronic PHGDH NA NA NA intronic ENSG00000092621 NA NA NA NA NA 1p12 NA Name=CTCF NA NA rs2236399 0.07 0.07 0.061 0.0856629 0.0626 0.0327 0.1787 0.0855 0.0982 0.05 0.04 0.15 0.09 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263664 NA NA 0.080362 0.079909 NA 0.08 NA 4.857038 1166 6 5973167 5973167 T A intergenic FARS2,NRN1 dist=201351;dist=25066 NA NA ncRNA_exonic ENSG00000215057 NA NA NA Score=475;Name=lod=114 NA 6p25.1 NA NA NA NA rs9502385 0.09 0.09 0.084 0.0820687 0.1431 0.0169 0.1081 0.0832 0.0665 0.14 0.02 0.14 0.08 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374749 NA NA NA NA NA 0.123 NA 4.8569 1166 6 31248655 31248655 G T intergenic HLA-C,HLA-B dist=8742;dist=72994 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs17198692 0.15 0.15 0.127 0.16853 0.1431 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643736 NA NA NA NA NA 0.116 NA 4.8569 1166 9 34133439 34133439 C A intergenic DCAF12,UBAP1 dist=6668;dist=45564 NA NA ncRNA_exonic ENSG00000239392 NA NA NA Score=863;Name=lod=4276 NA 9p13.3 NA NA NA NA rs10971948 0.11 0.11 0.09 0.131989 0.1431 0.0665 0.1326 0.0469 0.3027 0.15 0.09 0.15 0.03 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990448 NA NA NA NA NA 0.116 NA 4.8569 1166 12 48562850 48562850 C T intergenic ASB8,C12orf68 dist=11473;dist=14516 NA NA ncRNA_exonic ENSG00000257885 NA NA NA Score=792;Name=lod=2210 NA 12q13.11 NA NA NA NA rs11168434 0.17 0.17 0.172 0.164736 0.1431 0.1409 0.1081 0.2526 0.1329 0.15 0.17 0.1 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243861 NA NA NA NA NA 0.152 NA 4.8569 1166 11 47431529 47431529 G A intronic SLC39A13 NA NA NA intronic ENSG00000165915 NA NA NA NA NA 11p11.2 NA NA Name=36 NA rs753812 0.24 0.24 0.213 0.237021 0.1431 0.2956 0.2061 0.3578 0.1319 0.15 0.32 0.21 0.29 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750356 NA NA NA NA NA 0.217 NA 4.8569 1166 4 152681952 152681952 A G intronic PET112 NA NA NA intronic ENSG00000059691 NA NA NA NA NA 4q31.3 NA Name=Pol2(b),KAP1,Pol2 Name=2 NA rs1429559 0.41 0.41 0.423 0.445487 0.3777 0.3323 0.3098 0.5492 0.5879 0.36 0.37 0.31 0.59 0.4024 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.29171 NA NA 0.363023 0.51793 NA 0.428 NA 4.856877 1166 12 85277608 85277608 C T exonic SLC6A15 NA synonymous SNV SLC6A15:NM_018057:exon5:c.G786A:p.L262L exonic ENSG00000072041 NA synonymous SNV ENSG00000072041:ENST00000450363:exon5:c.G786A:p.L262L NA NA 12q21.31 NA NA NA NA rs17183612 0.15 0.15 0.141 0.110224 0.3042 0.002 0.2219 0.0076 0.0818 0.31 0.0017 0.23 0.01 0.2069 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144932 NA NA 0.298837 0.062188 NA 0.123 NA 4.8567296 1166 7 66532235 66532235 A G intronic TYW1 NA NA NA intronic ENSG00000198874 NA NA NA NA NA 7q11.21 NA Name=STAT3 Name=86 NA rs2711910 0.31 0.31 0.271 0.370807 0.3837 0.13 0.4035 0.4894 0.4223 0.32 0.13 0.36 0.44 0.3829 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092941 NA NA 0.377093 0.420336 NA 0.406 NA 4.856307 1166 16 68725783 68725783 G A exonic CDH3 NA synonymous SNV CDH3:NM_001793:exon13:c.G1956A:p.K652K exonic ENSG00000062038 NA synonymous SNV ENSG00000062038:ENST00000581171:exon12:c.G1791A:p.K597K,ENSG00000062038:ENST00000264012:exon13:c.G1956A:p.K652K,ENSG00000062038:ENST00000429102:exon13:c.G1956A:p.K652K Score=317;Name=lod=26 NA 16q22.1 NA NA NA NA rs2274239 0.6 0.6 0.602 0.574481 0.6153 0.4732 0.5461 0.6452 0.5613 0.62 0.53 0.57 0.66 0.5786 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566565 NA NA 0.616628 0.64263 NA 0.659 NA 4.8561386 1166 8 22442661 22442661 A G exonic PDLIM2 NA synonymous SNV PDLIM2:NM_176871:exon4:c.A447G:p.A149A,PDLIM2:NM_198042:exon4:c.A447G:p.A149A,PDLIM2:NM_021630:exon5:c.A1197G:p.A399A exonic ENSG00000120913 NA synonymous SNV ENSG00000120913:ENST00000265810:exon4:c.A447G:p.A149A,ENSG00000120913:ENST00000409141:exon4:c.A447G:p.A149A,ENSG00000120913:ENST00000409417:exon4:c.A447G:p.A149A,ENSG00000120913:ENST00000308354:exon5:c.A1197G:p.A399A,ENSG00000120913:ENST00000339162:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000397760:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000397761:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000426493:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000429812:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000436754:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000452226:exon5:c.A447G:p.A149A,ENSG00000120913:ENST00000456545:exon5:c.A447G:p.A149A NA NA 8p21.3 NA Name=ZNF263 NA NA rs2294047 0.57 0.57 0.553 0.584065 0.6123 0.4673 0.6527 0.5915 0.6166 0.61 0.47 0.6 0.59 0.6013 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646025 NA NA 0.596977 0.597821 NA 0.558 NA 4.8560896 1166 2 222826638 222826638 G T intergenic EPHA4,PAX3 dist=389628;dist=237968 NA NA ncRNA_exonic ENSG00000226666 NA NA NA Score=635;Name=lod=509 NA 2q36.1 NA NA NA NA rs28649254 0.2 0.2 0.203 0.18131 0.1441 0.2292 0.2219 0.2027 0.1125 0.14 0.24 0.21 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345331 NA NA NA NA NA 0.123 NA 4.8559 1166 6 117650131 117650131 A T intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 Score=905;Name=V$CEBPA_01 NA NA NA rs574664 0.1 0.1 0.091 0.0866613 0.1441 0.1032 0.0994 0.0076 0.1084 0.15 0.11 0.09 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820559 NA NA NA NA NA 0.123 NA 4.8559 1166 7 144344228 144344228 C T intronic TPK1 NA NA NA intronic ENSG00000196511 NA NA NA Score=346;Name=lod=34 NA 7q35 NA NA NA NA rs4726719 0.11 0.11 0.101 0.103235 0.1441 0.1151 0.1066 0.0582 0.1074 0.14 0.11 0.1 0.06 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.922883 2.922883 NA NA NA NA 0.072 NA 4.8559 1166 9 117797394 117797394 G A intronic TNC NA NA NA intronic ENSG00000041982 NA NA NA NA NA 9q33.1 NA NA Name=87 NA rs1330361 0.11 0.11 0.119 0.114816 0.1441 0.0089 0.1023 0.1762 0.1196 0.14 0.0035 0.11 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890413 NA NA NA NA NA 0.116 NA 4.8559 1166 16 74702254 74702254 G A intergenic RFWD3,MLKL dist=1475;dist=3499 NA NA ncRNA_exonic ENSG00000262904 NA NA NA Score=539;Name=lod=207 NA 16q23.1 NA NA NA NA rs4448975 0.11 0.11 0.079 0.117412 0.1441 0.005 0.2925 0.0915 0.1166 0.15 0.0017 0.25 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194707 NA NA NA NA NA 0.13 NA 4.8559 1166 21 24780100 24780100 G C intergenic D21S2088E,LOC339622 dist=22944;dist=1432764 NA NA ncRNA_exonic ENSG00000237569 NA NA NA Score=788;Name=lod=2124 NA 21q21.2 NA NA NA NA rs1394366 0.23 0.23 0.247 0.240016 0.1441 0.2897 0.1398 0.3533 0.2055 0.15 0.29 0.14 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257232 NA NA NA NA NA 0.326 NA 4.8559 1166 11 62560251 62560251 C G intronic NXF1 NA NA NA intronic ENSG00000162231 NA NA NA NA NA 11q12.3 NA NA Name=6 NA rs1815870 0.12 0.12 0.125 0.133786 0.0457 0.1558 0.0634 0.2368 0.1125 0.05 0.14 0.06 0.24 0.0987 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108316 NA NA NA NA NA 0.065 NA 4.8556 1166 5 32087253 32087253 A G exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon19:c.A3699G:p.S1233S exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon19:c.A3699G:p.S1233S,ENSG00000133401:ENST00000438447:exon20:c.A3699G:p.S1233S NA NA 5p13.3 NA NA NA NA rs157495 0.33 0.33 0.322 0.360423 0.2783 0.4137 0.2349 0.3411 0.5051 0.28 0.42 0.25 0.35 0.3017 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180492 NA NA 0.231163 0.337494 NA 0.239 NA 4.8555036 1166 1 163172574 163172574 G C intronic RGS5 NA NA NA ncRNA_intronic ENSG00000232892 NA NA NA NA NA 1q23.3 NA Name=Pol2 NA NA rs2292270 0.11 0.11 0.086 0.0928514 0.169 0.0397 0.1801 0.0605 0.0511 0.17 0.03 0.17 0.06 0.1427 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.920148 1.920148 NA 0.166163 0.06877 ID=COSM146672;OCCURENCE=1(stomach) 0.123 NA 4.8554703 1166 3 101295562 101295562 T C intronic PCNP NA NA NA ncRNA_exonic ENSG00000242299 NA NA NA Score=642;Name=lod=540 NA 3q12.3 NA NA NA NA rs4683933 0.38 0.38 0.315 0.381989 0.4781 0.4127 0.4409 0.18 0.4826 0.49 0.41 0.41 0.17 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707498 NA NA NA NA NA 0.348 NA 4.8552333 1167 2 210010180 210010180 C T intergenic PTH2R,MAP2 dist=650949;dist=278591 NA NA ncRNA_exonic ENSG00000232799 NA NA NA Score=643;Name=lod=548 NA 2q34 NA NA NA NA rs113259590 0.08 0.08 0.063 0.0948482 0.1451 0.0258 0.1254 0.0772 0.1166 0.13 0.01 0.13 0.06 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223733 NA NA NA NA NA 0.036 NA 4.8549 1167 2 222827492 222827492 T C intergenic EPHA4,PAX3 dist=390482;dist=237114 NA NA ncRNA_exonic ENSG00000226666 NA NA NA Score=821;Name=lod=2888 NA 2q36.1 NA NA NA NA rs13424672 0.2 0.2 0.197 0.183307 0.1451 0.2312 0.2233 0.2065 0.1135 0.14 0.24 0.21 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924863 NA NA NA NA NA 0.123 NA 4.8549 1167 10 99359739 99359739 T C intronic HOGA1 NA NA NA intronic ENSG00000155252,ENSG00000241935,ENSG00000249967 NA NA NA NA Name=Metabolite levels 10q24.2 NA NA NA NA rs2297644 0.1 0.1 0.081 0.10024 0.1451 0.0327 0.0764 0.1346 0.0941 0.15 0.04 0.07 0.13 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455653 NA NA NA NA ID=COSN163727;OCCURENCE=1(breast) 0.058 NA 4.8549 1167 15 78953464 78953464 G A intergenic CHRNB4,LOC646938 dist=19877;dist=90915 NA NA ncRNA_exonic ENSG00000213307 NA NA NA Score=554;Name=lod=239 NA 15q25.1 NA NA NA NA rs12595350 0.18 0.18 0.148 0.217252 0.1451 0.2351 0.4251 0.0189 0.3937 0.15 0.24 0.35 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224643 NA NA NA NA NA 0.145 NA 4.8549 1167 15 78953919 78953919 T C intergenic CHRNB4,LOC646938 dist=20332;dist=90460 NA NA ncRNA_intronic ENSG00000261303 NA NA NA Score=567;Name=lod=268 NA 15q25.1 NA NA NA NA rs7164665 0.22 0.22 0.177 0.258387 0.1451 0.2341 0.4366 0.1694 0.3937 0.15 0.24 0.36 0.2 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197609 NA NA NA NA NA 0.21 NA 4.8549 1167 2 216256344 216256344 C G intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA Name=FOSL2 NA NA rs10498038 0.02 0.02 0.02 0.0177716 0.0507 NA 0.0187 0.0015 0.0235 0.05 NA 0.02 NA 0.0371 0.057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16446 NA NA 0.057442 0.01044 NA 0.007 NA 4.854758 1167 11 6023581 6023581 A G exonic OR56A4 NA synonymous SNV OR56A4:NM_001005179:exon1:c.T798C:p.L266L exonic ENSG00000183389 NA synonymous SNV ENSG00000183389:ENST00000330728:exon1:c.T798C:p.L266L NA NA 11p15.4 NA NA NA NA rs11040248 0.16 0.16 0.162 0.16234 0.2694 0.0794 0.1945 0.0582 0.2556 0.27 0.08 0.19 0.07 0.2443 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.316416 NA NA 0.298301 0.107905 NA 0.094 NA 4.8546656 1167 17 4071245 4071245 C T intronic ANKFY1 NA NA NA intronic ENSG00000167740,ENSG00000185722 NA NA NA NA NA 17p13.2 NA NA Name=5 NA rs16953763 0.04 0.04 0.023 0.0239617 0.0547 NA 0.0389 0.0083 0.0276 0.07 NA 0.05 0.01 0.0427 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514082 NA NA 0.047994 0.01198 NA 0.087 NA 4.854606 1167 2 127953054 127953054 A C exonic CYP27C1 NA synonymous SNV CYP27C1:NM_001001665:exon5:c.T576G:p.T192T exonic ENSG00000186684 NA synonymous SNV ENSG00000186684:ENST00000335247:exon5:c.T576G:p.T192T,ENSG00000186684:ENST00000409327:exon5:c.T576G:p.T192T NA NA 2q14.3 NA NA NA NA rs7568070 0.25 0.25 0.29 0.279353 0.2664 0.1141 0.1499 0.4644 0.3047 0.27 0.1 0.15 0.47 0.2697 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.024828 NA NA 0.276047 0.437812 ID=COSM148938;OCCURENCE=1(stomach) 0.406 NA 4.8545196 1167 19 38847431 38847431 T C exonic CATSPERG NA synonymous SNV CATSPERG:NM_021185:exon11:c.T1245C:p.T415T exonic ENSG00000099338 NA synonymous SNV ENSG00000099338:ENST00000215069:exon9:c.T1224C:p.T408T,ENSG00000099338:ENST00000409235:exon11:c.T1245C:p.T415T,ENSG00000099338:ENST00000409410:exon11:c.T1245C:p.T415T NA NA 19q13.2 NA NA NA NA rs2286475 0.33 0.33 0.274 0.329073 0.2873 0.4544 0.3948 0.1573 0.4284 0.28 0.48 0.36 0.18 0.289 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032772 NA NA 0.23593 0.176804 NA 0.232 NA 4.8544366 1167 15 36871957 36871957 C T UTR5 C15orf41 NM_001130010:c.-105C>T NA NA UTR5 ENSG00000186073 ENST00000566621:c.-105C>T,ENST00000564586:c.-105C>T NA NA NA NA 15q14 NA Name=Pol2,TAF1,E2F6_(H-50),HEY1 NA NA rs3743337 0.48 0.48 0.487 0.477636 0.4791 0.4296 0.5576 0.4818 0.4632 0.47 0.44 0.57 0.48 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.022128 2.022128 NA NA NA NA 0.5 NA 4.8542334 1167 9 97050005 97050005 A G intronic ZNF169 NA NA NA ncRNA_exonic ENSG00000237679 NA NA NA Score=596;Name=lod=353 NA 9q22.32 NA NA NA NA rs16912862 0.47 0.47 0.45 0.466254 0.4791 0.4097 0.5692 0.4228 0.4969 0.5 0.41 0.55 0.44 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076764 NA NA NA NA NA 0.413 NA 4.8542333 1167 17 560604 560604 T C intronic VPS53 NA NA NA ncRNA_exonic ENSG00000244097 NA NA NA Score=803;Name=lod=2456 NA 17p13.3 NA NA NA NA rs2160955 0.27 0.27 0.265 0.28135 0.4791 0.1131 0.2781 0.0772 0.5297 0.49 0.13 0.28 0.1 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586512 NA NA NA NA NA 0.297 NA 4.8542333 1167 1 172718106 172718106 A G intergenic FASLG,TNFSF18 dist=82094;dist=292254 NA NA ncRNA_exonic ENSG00000229785 NA NA NA Score=598;Name=lod=360 NA 1q24.3 NA NA NA NA rs115457643 0.07 0.07 0.057 0.0776757 0.1461 0.0129 0.0937 0.0068 0.1585 0.13 0.02 0.12 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769055 NA NA NA NA NA 0.072 NA 4.8539 1167 8 13562889 13562889 C G intergenic C8orf48,SGCZ dist=137092;dist=384484 NA NA ncRNA_exonic ENSG00000255457 NA NA NA Score=583;Name=lod=312 NA 8p22 NA NA NA NA rs73221654 0.08 0.08 0.074 0.0750799 0.1461 0.0357 0.0692 0.0582 0.0695 0.14 0.02 0.06 0.05 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306706 NA NA NA NA NA 0.138 NA 4.8539 1167 9 134388562 134388562 C T intronic POMT1 NA NA NA intronic ENSG00000130714 NA NA NA NA NA 9q34.13 NA NA Name=5 NA rs77176471 0.08 0.08 0.073 0.0784744 0.1461 0.002 0.0793 0.1233 0.0266 0.14 0.0017 0.09 0.1 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483626 NA NA NA NA NA 0.094 NA 4.8539 1167 11 86736768 86736768 G A intergenic LOC100506368,TMEM135 dist=24779;dist=12118 NA NA ncRNA_exonic ENSG00000254748 NA NA NA Score=449;Name=lod=89 NA 11q14.2 NA NA NA NA rs11234914 0.16 0.16 0.154 0.157149 0.1461 0.1468 0.1182 0.1914 0.1605 0.15 0.15 0.13 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.538945 1.538945 NA NA NA NA 0.109 NA 4.8539 1167 21 47420761 47420761 G A intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA Name=22 NA rs7283989 0.58 0.58 0.566 0.559505 0.6004 0.7202 0.6383 0.3669 0.5562 0.6 0.72 0.61 0.36 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151681 NA NA 0.545883 0.401012 NA 0.072 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079771.1;CLNDSDB=.;CLNDSDBID=. 4.853717 1167 11 62564009 62564009 T C exonic NXF1 NA synonymous SNV NXF1:NM_006362:exon14:c.A1209G:p.R403R exonic ENSG00000162231 NA synonymous SNV ENSG00000162231:ENST00000294172:exon14:c.A1209G:p.R403R,ENSG00000162231:ENST00000530875:exon15:c.A1338G:p.R446R,ENSG00000162231:ENST00000532297:exon15:c.A1209G:p.R403R Score=599;Name=lod=363 NA 11q12.3 NA NA NA NA rs4693 0.55 0.55 0.565 0.508187 0.6233 0.5496 0.4179 0.5348 0.3753 0.61 0.53 0.47 0.53 0.5507 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451225 1.451225 NA 0.639102 0.550204 NA 0.514 NA 4.8535646 1167 10 95168715 95168715 C T intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA Name=6 NA rs12243458 0.07 0.07 0.071 0.058107 0.0507 0.001 0.0476 0.1475 0.0112 0.05 NA 0.06 0.17 0.046 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410534 NA NA 0.05 0.132965 NA 0.058 NA 4.8533 1167 8 145003777 145003777 G A intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA Name=TCF12 Name=19 NA rs11136335 0.24 0.24 0.217 0.22524 0.4135 0.1369 0.2882 0.028 0.3446 0.41 0.15 0.29 0.03 0.3354 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.280684 NA NA 0.397838 0.087943 NA 0.254 NA 4.853262 1167 2 132480986 132480986 C T intronic C2orf27A NA NA NA ncRNA_exonic ENSG00000213222 NA NA NA Score=615;Name=lod=421 NA 2q21.1 NA NA NA NA rs62163367 0.3 0.3 0.264 0.272963 0.4801 0.131 0.3963 0.0825 0.3763 0.49 0.12 0.42 0.11 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21313 NA NA NA NA NA 0.341 NA 4.8532333 1167 2 132481526 132481526 C A intronic C2orf27A NA NA NA ncRNA_exonic ENSG00000213222 NA NA NA Score=605;Name=lod=383 NA 2q21.1 NA NA NA NA rs62163368 0.3 0.3 0.266 0.27516 0.4801 0.131 0.3991 0.0893 0.3763 0.49 0.12 0.43 0.12 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.905418 NA NA NA NA NA 0.261 NA 4.8532333 1167 2 132481529 132481529 C T intronic C2orf27A NA NA NA ncRNA_exonic ENSG00000213222 NA NA NA Score=605;Name=lod=383 NA 2q21.1 NA NA NA NA rs62163369 0.3 0.3 0.264 0.27516 0.4801 0.131 0.3991 0.0893 0.3763 0.49 0.12 0.43 0.12 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841224 NA NA NA NA NA 0.261 NA 4.8532333 1167 6 32123639 32123639 G A ncRNA_intronic PPT2-EGFL8 NA NA NA intronic ENSG00000221988,ENSG00000258388 NA NA NA Score=497;Name=lod=139 NA 6p21.32 NA NA NA NA rs2269425 0.18 0.18 0.166 0.144968 0.1769 0.1706 0.2147 0.0923 0.1074 0.19 0.19 0.23 0.1 0.155 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.297728 3.297728 NA 0.14821 0.105228 NA 0.087 NA 4.8532233 1167 6 151243467 151243467 G A intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA Name=13 NA rs9478857 0.06 0.06 0.069 0.0904553 0.0408 0.0347 0.0519 0.177 0.1094 0.04 0.04 0.04 0.14 0.0646 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93092 NA NA 0.041512 0.160009 NA 0.072 NA 4.853088 1167 2 219706694 219706694 C T intergenic PRKAG3,WNT6 dist=10182;dist=17852 NA NA ncRNA_exonic ENSG00000232625 NA NA NA Score=725;Name=lod=1174 NA 2q35 NA NA NA NA rs691574 0.2 0.2 0.182 0.179513 0.1471 0.4018 0.1758 0.0514 0.1595 0.16 0.4 0.15 0.09 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.538493 1.538493 NA NA NA NA 0.138 NA 4.8529 1167 11 17452603 17452603 T G intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA NA NA 11p15.1 NA Name=NRSF NA NA rs8192694 0.09 0.09 0.087 0.096246 0.1471 0.0516 0.1268 0.0204 0.1708 0.14 0.05 0.13 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337355 NA NA NA NA NA 0.058 NA 4.8529 1167 12 96384031 96384031 C T intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA Name=2 NA rs10745747 0.16 0.16 0.157 0.150359 0.1471 0.0873 0.1095 0.2678 0.089 0.16 0.09 0.12 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689976 NA NA NA NA NA 0.181 NA 4.8529 1167 15 48797424 48797424 C A intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs8037304 0.27 0.27 0.276 0.270767 0.1471 0.3522 0.1945 0.4319 0.1503 0.14 0.38 0.17 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321537 NA NA NA NA NA 0.232 NA 4.8529 1167 15 48813107 48813107 G T intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA Name=20 NA rs2413907 0.2 0.2 0.165 0.185703 0.1471 0.3522 0.1772 0.1188 0.1503 0.14 0.38 0.15 0.1 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0657 NA NA NA NA NA 0.123 NA 4.8529 1167 7 39472708 39472708 A G exonic POU6F2 NA synonymous SNV POU6F2:NM_001166018:exon8:c.A1059G:p.P353P,POU6F2:NM_007252:exon8:c.A1059G:p.P353P exonic ENSG00000106536 NA synonymous SNV ENSG00000106536:ENST00000416452:exon2:c.A156G:p.P52P,ENSG00000106536:ENST00000559001:exon5:c.A894G:p.P298P,ENSG00000106536:ENST00000524147:exon6:c.A894G:p.P298P,ENSG00000106536:ENST00000518318:exon7:c.A1059G:p.P353P,ENSG00000106536:ENST00000520104:exon7:c.A1035G:p.P345P,ENSG00000106536:ENST00000403058:exon8:c.A1059G:p.P353P NA NA 7p14.1 NA NA NA NA rs2302123 0.39 0.39 0.378 0.40615 0.2425 0.5833 0.2795 0.5416 0.2986 0.24 0.59 0.26 0.49 0.3157 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448751 NA NA 0.255814 0.524739 NA 0.326 NA 4.8526526 1167 18 61154351 61154351 T C intronic SERPINB5 NA NA NA intronic ENSG00000206075 NA NA NA NA NA 18q21.33 NA NA Name=5 NA rs2271253 0.12 0.12 0.136 0.175719 0.0408 0.0734 0.0836 0.3517 0.2474 0.03 0.08 0.08 0.34 0.0819 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853328 NA NA 0.025233 0.283606 NA 0.181 NA 4.852067 1167 5 137708434 137708434 C T exonic KDM3B NA synonymous SNV KDM3B:NM_016604:exon2:c.C264T:p.I88I exonic ENSG00000120733 NA synonymous SNV ENSG00000120733:ENST00000510866:exon1:c.C72T:p.I24I,ENSG00000120733:ENST00000314358:exon2:c.C264T:p.I88I Score=649;Name=lod=577 NA 5q31.2 NA NA NA NA rs4835678 0.66 0.66 0.654 0.67492 0.5934 0.8482 0.6715 0.5598 0.7382 0.59 0.87 0.62 0.54 0.6376 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.361496 1.361496 NA 0.583605 0.574217 NA 0.623 NA 4.8520616 1167 4 109710641 109710641 C T intergenic AGXT2L1,COL25A1 dist=26406;dist=21236 NA NA ncRNA_exonic ENSG00000250185 NA NA NA Score=787;Name=lod=2097 NA 4q25 NA NA NA NA rs55686473 0.07 0.07 0.051 0.0505192 0.1481 NA 0.0591 0.0083 0.0532 0.15 NA 0.07 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669164 NA NA NA NA NA 0.101 NA 4.8519 1167 12 21695584 21695584 A G intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA NA Name=4 NA rs3741841 0.19 0.19 0.18 0.209265 0.1481 0.2004 0.1427 0.3253 0.1718 0.13 0.18 0.15 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184885 NA NA NA NA NA 0.304 NA 4.8519 1167 14 95100748 95100748 G A intergenic SERPINA3,SERPINA13P dist=10358;dist=6314 NA NA ncRNA_exonic ENSG00000258805 NA NA NA Score=622;Name=lod=450 NA 14q32.13 NA NA NA NA rs79693607 0.11 0.11 NA 0.121805 0.1481 0.1448 0.0692 0.0401 0.2188 0.15 0.13 0.07 0.06 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040831 NA NA NA NA NA 0.065 NA 4.8519 1167 12 125438523 125438523 C T exonic DHX37 NA synonymous SNV DHX37:NM_032656:exon20:c.G2598A:p.E866E exonic ENSG00000150990 NA synonymous SNV ENSG00000150990:ENST00000544745:exon17:c.G1959A:p.E653E,ENSG00000150990:ENST00000308736:exon20:c.G2598A:p.E866E Score=497;Name=lod=140 NA 12q24.31 NA NA NA NA rs4258464 0.63 0.63 0.552 0.65635 0.5984 0.8462 0.6571 0.4463 0.8037 0.58 0.84 0.64 0.43 0.6338 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916751 NA NA 0.582791 0.4396 ID=COSM203006;OCCURENCE=1(large_intestine) 0.5 NA 4.8516756 1167 5 57754005 57754005 G A intronic PLK2 NA NA NA intronic ENSG00000145632 NA NA NA NA NA 5q11.2 Score=912;Name=V$FOXJ2_01 NA Name=105 NA rs1848510 0.4 0.4 0.405 0.403155 0.3787 0.5139 0.4625 0.2602 0.4652 0.37 0.56 0.41 0.26 0.4005 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398781 NA NA 0.369156 0.28061 NA 0.406 NA 4.851644 1167 3 13978803 13978803 A G upstream;downstream TPRXL;FGD5P1 NA NA NA ncRNA_exonic ENSG00000250439 NA NA NA Score=596;Name=lod=351 NA 3p25.1 NA NA NA NA rs6776709 0.34 0.34 0.302 0.372204 0.3151 0.4276 0.3746 0.2935 0.4785 0.32 0.39 0.36 0.31 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306542 NA NA NA NA NA NA NA 4.8515666 1167 6 162990595 162990595 T C intronic PARK2 NA NA NA ncRNA_exonic ENSG00000227913 NA NA NA Score=295;Name=lod=21 NA 6q26 NA NA NA NA rs10945848 0.57 0.57 0.537 0.577276 0.4821 0.7143 0.5389 0.5446 0.6053 0.47 0.74 0.54 0.54 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486855 NA NA NA NA NA 0.609 NA 4.8512333 1167 16 10205691 10205691 G C intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs34393853 0.47 0.47 0.492 0.474441 0.4821 0.4911 0.3919 0.5023 0.4703 0.48 0.49 0.4 0.48 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318768 NA NA NA NA NA 0.406 NA 4.8512333 1167 1 205042939 205042939 C T UTR3 CNTN2 NM_005076:c.*46C>T NA NA UTR3 ENSG00000184144 ENST00000331830:c.*46C>T NA NA NA NA 1q32.1 NA Name=Pol2 NA NA rs17416088 0.14 0.14 0.137 0.165136 0.166 0.0069 0.0994 0.2837 0.2137 0.16 0.0035 0.14 0.25 0.1642 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.148417 NA NA 0.152093 0.257376 NA 0.08 NA 4.8510404 1167 1 111957245 111957245 G A exonic OVGP1 NA synonymous SNV OVGP1:NM_002557:exon11:c.C1878T:p.P626P exonic ENSG00000085465 NA synonymous SNV ENSG00000085465:ENST00000369732:exon11:c.C1878T:p.P626P NA NA 1p13.2 NA NA NA NA rs9629 0.2 0.2 0.195 0.191693 0.2724 0.1885 0.1945 0.115 0.2137 0.27 0.2 0.22 0.1 0.2556 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076652 NA NA 0.287674 0.14276 NA 0.203 NA 4.8509926 1167 16 15694484 15694484 G A intronic KIAA0430 NA NA NA intronic ENSG00000166780,ENSG00000166783 NA NA NA NA NA 16p13.11 Score=875;Name=V$MAZR_01 NA NA NA rs79236569 0.02 0.02 0.018 0.028155 0.0427 NA 0.0259 0.0053 0.0746 0.04 NA 0.03 0.01 0.0474 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.060967 NA NA 0.058909 0.010477 NA 0.029 NA 4.850991 1167 9 97260370 97260370 T C intergenic HIATL1,FBP2 dist=37168;dist=60633 NA NA ncRNA_exonic ENSG00000224245 NA NA NA Score=527;Name=lod=184 NA 9q22.32 NA NA NA NA rs7868600 0.19 0.19 0.186 0.215655 0.1491 0.0675 0.1398 0.3949 0.2485 0.14 0.09 0.17 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771426 NA NA NA NA NA 0.174 NA 4.8509 1167 9 124282253 124282253 C G intergenic GGTA1P,DAB2IP dist=19947;dist=47146 NA NA ncRNA_exonic ENSG00000213467 NA NA NA Score=740;Name=lod=1361 NA 9q33.2 NA NA NA NA rs60635873 0.16 0.16 0.154 0.153554 0.1491 0.2113 0.1052 0.2103 0.0562 0.14 0.19 0.13 0.17 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722918 NA NA NA NA NA 0.145 NA 4.8509 1167 9 138683790 138683790 T C intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA Name=3 NA rs41306389 0.08 0.08 0.088 0.109425 0.1491 0.002 0.0908 0.0855 0.2249 0.15 NA 0.1 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568273 NA NA NA NA NA 0.152 NA 4.8509 1167 11 7439447 7439447 C T intronic SYT9 NA NA NA intronic ENSG00000170743 NA NA NA NA NA 11p15.4 NA NA Name=16 NA rs12364093 0.17 0.17 0.146 0.172324 0.1491 0.2917 0.1254 0.1619 0.1207 0.14 0.28 0.12 0.14 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146246 NA NA NA NA NA 0.116 NA 4.8509 1167 12 96104461 96104461 G A intronic NTN4 NA NA NA intronic ENSG00000074527 NA NA NA NA NA 12q22 NA NA Name=6 NA rs2431012 0.07 0.07 0.062 0.053115 0.1491 NA 0.0836 0.0038 0.0542 0.15 NA 0.11 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.045008 NA NA NA NA NA 0.159 NA 4.8509 1167 17 20805497 20805497 T G intergenic CCDC144NL,USP22 dist=6044;dist=97409 NA NA ncRNA_exonic ENSG00000265790 NA NA NA Score=622;Name=lod=448 NA 17p11.2 NA NA NA NA rs16962515 0.12 0.12 0.095 0.0952476 0.1491 0.1786 0.085 0.0068 0.0808 0.14 0.21 0.09 0.01 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633608 NA NA NA NA NA 0.109 NA 4.8509 1167 17 30330286 30330286 G A intergenic SUZ12,LRRC37B dist=2229;dist=17869 NA NA ncRNA_exonic ENSG00000264300 NA NA NA Score=600;Name=lod=367 NA 17q11.2 NA NA NA NA rs72825736 0.08 0.08 0.073 0.08127 0.1491 NA 0.0821 0.0356 0.1564 0.15 0.0035 0.08 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935986 NA NA NA NA NA 0.159 NA 4.8509 1167 1 86913265 86913265 C T exonic CLCA2 NA synonymous SNV CLCA2:NM_006536:exon11:c.C1788T:p.R596R exonic ENSG00000137975 NA synonymous SNV ENSG00000137975:ENST00000370565:exon11:c.C1788T:p.R596R NA NA 1p22.3 NA NA NA NA rs2275001 0.26 0.26 0.236 0.254593 0.2634 0.3889 0.2032 0.0908 0.365 0.27 0.39 0.23 0.12 0.279 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340496 NA NA 0.273488 0.131866 NA 0.188 NA 4.8507786 1167 2 128253571 128253571 C T intronic IWS1 NA NA NA ncRNA_intronic ENSG00000231731 NA NA NA Score=520;Name=lod=173 NA 2q14.3 NA NA NA NA rs334151 0.08 0.08 0.074 0.0642971 0.168 0.001 0.0865 0.0174 0.0706 0.16 0.0017 0.09 0.03 0.1354 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.660893 1.660893 NA 0.179302 0.0463 NA 0.174 NA 4.8506313 1167 7 76610095 76610095 C T upstream DTX2P1-UPK3BP1-PMS2P11 NA NA NA ncRNA_exonic ENSG00000186704 NA NA NA Score=529;Name=lod=188 NA 7q11.23 NA NA NA NA rs62473742 0.2 0.2 0.133 0.182308 0.3161 0.1319 0.2579 0.0446 0.229 0.31 0.12 0.28 0.06 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534714 NA NA NA NA NA NA NA 4.8505666 1167 17 63189817 63189817 G A intronic RGS9 NA NA NA intronic ENSG00000108370 NA NA NA NA NA 17q24.1 NA NA Name=31 NA rs2056050 0.13 0.13 0.088 0.154952 0.0239 0.3403 0.2839 0.0023 0.2137 0.03 0.33 0.22 0.0041 0.1032 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050795 NA NA 0.022577 0.010198 NA 0.072 NA 4.850323 1167 9 20532878 20532878 C G intronic MLLT3 NA NA NA ncRNA_exonic ENSG00000237088 NA NA NA Score=785;Name=lod=2069 NA 9p21.3 NA NA NA NA rs10757136 0.58 0.58 0.564 0.561302 0.4831 0.6706 0.5634 0.5378 0.5593 0.48 0.71 0.57 0.59 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009022 NA NA NA NA NA 0.551 NA 4.8502333 1167 17 15607777 15607777 A G intronic ZNF286A NA NA NA ncRNA_exonic ENSG00000233966 NA NA NA Score=727;Name=lod=1203 NA 17p12 NA NA NA NA rs62071718 0.38 0.38 0.375 0.399561 0.4831 0.4762 0.4164 0.3026 0.3538 0.46 0.42 0.38 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250512 NA NA NA NA NA 0.08 NA 4.8502333 1167 1 161136843 161136843 C G intronic PPOX NA NA NA intronic ENSG00000143224 NA NA NA NA NA 1q23.3 NA Name=E2F6_(H-50),E2F6,ZNF263,ZBTB7A_(SC-34508),TBP Name=6 NA rs2301287 0.38 0.38 0.34 0.353435 0.4006 0.4474 0.3761 0.2315 0.3569 0.4 0.47 0.37 0.24 0.3717 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22967 NA NA 0.377558 0.272129 NA 0.355 NA 4.850142 1167 1 26609259 26609259 C T exonic UBXN11 NA synonymous SNV UBXN11:NM_001077262:exon10:c.G813A:p.T271T,UBXN11:NM_145345:exon14:c.G1074A:p.T358T,UBXN11:NM_183008:exon15:c.G1173A:p.T391T exonic ENSG00000158062 NA synonymous SNV ENSG00000158062:ENST00000314675:exon10:c.G813A:p.T271T,ENSG00000158062:ENST00000374223:exon11:c.G444A:p.T148T,ENSG00000158062:ENST00000357089:exon13:c.G1074A:p.T358T,ENSG00000158062:ENST00000374217:exon14:c.G1074A:p.T358T,ENSG00000158062:ENST00000374221:exon15:c.G1173A:p.T391T,ENSG00000158062:ENST00000374222:exon15:c.G1173A:p.T391T NA NA 1p36.11 NA Name=Egr-1 NA NA rs7522905 0.45 0.45 0.466 0.384585 0.6282 0.3095 0.3948 0.3245 0.2853 0.63 0.3 0.42 0.38 0.5273 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409156 NA NA 0.661203 0.421053 NA 0.478 NA 4.8499636 1167 6 32629802 32629802 A G exonic HLA-DQB1 NA synonymous SNV HLA-DQB1:NM_001243961:exon3:c.T603C:p.D201D,HLA-DQB1:NM_002123:exon3:c.T603C:p.D201D exonic ENSG00000179344 NA synonymous SNV ENSG00000179344:ENST00000399082:exon2:c.T333C:p.D111D,ENSG00000179344:ENST00000374943:exon3:c.T603C:p.D201D,ENSG00000179344:ENST00000399079:exon3:c.T603C:p.D201D,ENSG00000179344:ENST00000434651:exon3:c.T603C:p.D201D,ENSG00000179344:ENST00000399084:exon4:c.T603C:p.D201D NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1049092 0.61 0.61 0.602 0.620208 0.5994 0.6756 0.7176 0.4977 0.681 0.59 0.72 0.7 0.45 0.6212 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.14947 NA NA 0.596163 0.509083 NA 0.036 NA 4.8499036 1167 5 7883188 7883188 G A intronic MTRR NA NA NA intronic ENSG00000124275 NA NA NA NA NA 5p15.31 NA NA Name=6 NA rs162035 0.23 0.23 0.22 0.251198 0.1501 0.1399 0.3646 0.4327 0.1442 0.14 0.15 0.31 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988545 NA NA NA NA NA 0.326 NA 4.8499 1167 11 7439418 7439418 A G intronic SYT9 NA NA NA intronic ENSG00000170743 NA NA NA NA NA 11p15.4 NA NA Name=16 NA rs12365591 0.17 0.17 0.146 0.172724 0.1501 0.2927 0.1254 0.1619 0.1207 0.14 0.28 0.12 0.14 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399874 NA NA NA NA NA 0.116 NA 4.8499 1167 13 90013792 90013792 A T intergenic LINC00433,LINC00353 dist=816028;dist=187256 NA NA ncRNA_exonic ENSG00000225530 NA NA NA Score=755;Name=lod=1562 NA 13q31.3 NA NA NA NA rs72630577 0.07 0.07 0.058 0.0537141 0.1501 0.002 0.0576 0.0045 0.0716 0.16 0.0035 0.08 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167678 NA NA NA NA NA 0.123 NA 4.8499 1167 13 90013841 90013841 G C intergenic LINC00433,LINC00353 dist=816077;dist=187207 NA NA ncRNA_exonic ENSG00000225530 NA NA NA Score=755;Name=lod=1562 NA 13q31.3 NA NA NA NA rs72630579 0.07 0.07 0.06 0.0537141 0.1501 0.002 0.0576 0.0045 0.0716 0.16 0.0035 0.08 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.204016 NA NA NA NA NA 0.123 NA 4.8499 1167 17 20805343 20805343 T C intergenic CCDC144NL,USP22 dist=5890;dist=97563 NA NA ncRNA_exonic ENSG00000265790 NA NA NA Score=622;Name=lod=448 NA 17p11.2 NA NA NA NA rs150455797 0.12 0.12 0.088 0.0978435 0.1501 0.1796 0.0865 0.0144 0.0808 0.14 0.21 0.09 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155603 NA NA NA NA NA 0.101 NA 4.8499 1167 6 29797639 29797639 C T exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon6:c.C942T:p.G314G exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000376815:exon3:c.C390T:p.G130G,ENSG00000204632:ENST00000376818:exon4:c.C666T:p.G222G,ENSG00000204632:ENST00000478519:exon4:c.C666T:p.G222G,ENSG00000204632:ENST00000360323:exon5:c.C942T:p.G314G,ENSG00000204632:ENST00000376828:exon6:c.C957T:p.G319G,ENSG00000204632:ENST00000428701:exon6:c.C942T:p.G314G NA NA 6p22.1 NA NA NA NA rs1049033 0.23 0.23 0.227 0.231829 0.2555 0.1091 0.245 0.2504 0.2996 0.26 0.14 0.22 0.29 0.2662 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577027 NA NA 0.295465 0.268271 NA 0.254 NA 4.8495016 1167 12 124144395 124144395 A G exonic GTF2H3 NA synonymous SNV GTF2H3:NM_001271866:exon9:c.A609G:p.P203P,GTF2H3:NM_001271867:exon10:c.A615G:p.P205P,GTF2H3:NM_001271868:exon10:c.A300G:p.P100P,GTF2H3:NM_001516:exon11:c.A738G:p.P246P exonic ENSG00000111358 NA nonsynonymous SNV ENSG00000111358:ENST00000543415:exon10:c.A592G:p.S198G NA NA 12q24.31 NA NA NA NA rs1051793 0.34 0.34 0.345 0.351038 0.3817 0.0615 0.304 0.6135 0.2965 0.39 0.06 0.32 0.63 0.3648 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.798678 2.798678 NA 0.404535 0.589877 NA 0.312 NA 4.848965 1167 1 110207482 110207482 C T intronic GSTM4 NA NA NA intronic ENSG00000168765 NA NA NA NA NA 1p13.3 NA NA Name=3 NA rs670439 0.1 0.1 0.106 0.0834665 0.1511 0.001 0.0764 0.1256 0.047 0.16 NA 0.08 0.15 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666038 NA NA NA NA NA 0.087 NA 4.8489 1167 4 189028010 189028010 G A intergenic TRIML2,TRIML1 dist=1602;dist=32588 NA NA ncRNA_exonic ENSG00000241011 NA NA NA Score=510;Name=lod=157 NA 4q35.2 NA NA NA NA rs62352742 0.18 0.18 0.154 0.177716 0.1511 0.1815 0.2205 0.2277 0.1033 0.14 0.2 0.2 0.2 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440041 NA NA NA NA NA 0.167 NA 4.8489 1167 8 106207406 106207406 C G intergenic LRP12,ZFPM2 dist=606154;dist=123741 NA NA ncRNA_exonic ENSG00000253318 NA NA NA Score=688;Name=lod=832 NA 8q23.1 NA NA NA NA rs1460580 0.16 0.16 0.149 0.136182 0.1511 0.2837 0.1037 0.0348 0.1288 0.16 0.28 0.14 0.05 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168312 NA NA NA NA NA 0.094 NA 4.8489 1167 9 97177641 97177641 A G intronic HIATL1 NA NA NA intronic ENSG00000148110 NA NA NA NA NA 9q22.32 NA NA Name=4 NA rs12338572 0.17 0.17 0.139 0.182308 0.1511 0.0506 0.1412 0.292 0.2311 0.14 0.07 0.17 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.332499 1.332499 NA NA NA NA 0.065 NA 4.8489 1167 9 97195313 97195313 T C intronic HIATL1 NA NA NA intronic ENSG00000148110 NA NA NA Score=374;Name=lod=44 NA 9q22.32 NA NA NA NA rs10993194 0.16 0.16 0.163 0.182508 0.1511 0.0506 0.1412 0.2927 0.2311 0.15 0.07 0.16 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447561 NA NA NA NA NA 0.13 NA 4.8489 1167 15 78188471 78188471 G T intergenic LOC253044,LOC645752 dist=246890;dist=18088 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=429;Name=lod=74 NA 15q24.3 NA NA NA NA rs7162616 0.1 0.1 0.1 0.0836661 0.1511 0.0556 0.0821 0.0552 0.0828 0.15 0.07 0.09 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12963 NA 0.02 NA NA NA 0.109 NA 4.8489 1167 16 66599710 66599710 G A intronic CKLF,CKLF-CMTM1 NA NA NA intronic ENSG00000217555,ENSG00000254788 NA NA NA NA NA 16q21 NA NA Name=2 NA rs2232727 0.07 0.07 0.058 0.0515176 0.1511 NA 0.0778 0.0098 0.0399 0.15 NA 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959946 NA NA NA NA NA 0.029 NA 4.8489 1167 14 100613093 100613093 C T UTR3 DEGS2 NM_206918:c.*5G>A NA NA UTR3 ENSG00000168350 ENST00000305631:c.*5G>A,ENST00000553834:c.*69G>A NA NA NA NA 14q32.2 NA Name=CTCF,CTCF_(C-20),Pol2-4H8 NA NA rs2236317 0.14 0.14 0.117 0.138978 0.17 0.1776 0.1628 0.0643 0.1513 0.17 0.16 0.16 0.06 0.1539 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633586 NA NA 0.160814 0.079664 NA 0.058 NA 4.8486194 1167 11 60900018 60900018 G T intronic VPS37C NA NA NA intronic ENSG00000167987 NA NA NA Score=547;Name=lod=223 NA 11q12.2 NA NA NA NA rs72914704 0.03 0.03 0.026 0.0217652 0.0606 NA 0.0504 0.0038 0.0082 0.05 NA 0.05 0.0041 0.0366 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286073 NA NA 0.054239 0.012996 NA 0.022 NA 4.848561 1167 15 78202253 78202253 C T intergenic LOC253044,LOC645752 dist=260672;dist=4306 NA NA intergenic ENSG00000260139,ENSG00000260776 dist=5237;dist=4306 NA NA Score=571;Name=lod=279 NA 15q24.3 Score=685;Name=V$P53_01 NA NA NA rs12916202 0.26 0.26 0.163 0.276757 0.4851 0.1597 0.2781 0.2224 0.2556 0.39 0.15 0.27 0.2 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754687 NA NA NA NA NA 0.275 NA 4.8482334 1167 8 37635649 37635649 A G UTR3 PROSC NM_007198:c.*27A>G NA NA UTR3 ENSG00000147471 ENST00000328195:c.*27A>G NA NA NA NA 8p11.23 NA Name=USF1_(SC-8983) NA NA rs7463174 0.2 0.2 0.17 0.202875 0.1402 0.3065 0.2378 0.084 0.2965 0.15 0.34 0.19 0.12 0.1895 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.765389 1.765389 NA 0.155465 0.107127 NA 0.159 NA 4.8481684 1167 5 179135955 179135955 T G intronic CANX NA NA NA intronic ENSG00000127022 NA NA NA NA NA 5q35.3 NA NA Name=4 NA rs111374658 0.02 0.02 0.021 0.0179712 0.0586 NA 0.0187 0.0038 0.0133 0.05 NA 0.02 0.002 0.0414 0.052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453315 1.453315 NA 0.05186 0.009079 NA 0.022 NA 4.84814 1167 7 45856902 45856902 T C intergenic SEPT7P2,IGFBP1 dist=48285;dist=71057 NA NA ncRNA_exonic ENSG00000235955 NA NA NA Score=662;Name=lod=652 NA 7p12.3 NA NA NA NA rs34273038 0.16 0.16 0.12 0.177716 0.1521 0.1181 0.1081 0.3835 0.0368 0.14 0.1 0.12 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382477 NA NA NA NA NA NA NA 4.8479 1167 10 87898839 87898839 G A intronic GRID1 NA NA NA intronic ENSG00000182771 NA NA NA NA NA 10q23.1 NA Name=CTCF NA NA rs34013482 0.15 0.15 0.159 0.182308 0.1521 0.0893 0.1715 0.264 0.2065 0.14 0.07 0.2 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021983 NA NA NA NA NA 0.21 NA 4.8479 1167 16 56721773 56721773 A T intergenic MT1X,NUP93 dist=3665;dist=42244 NA NA ncRNA_exonic ENSG00000261429 NA NA NA NA NA 16q13 NA Name=Pol2 NA NA rs74024338 0.14 0.14 0.152 0.147963 0.1521 0.0813 0.147 0.2216 0.1135 0.15 0.07 0.16 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146447 NA NA NA NA NA 0.152 NA 4.8479 1167 18 8825192 8825192 A G exonic SOGA2 NA synonymous SNV SOGA2:NM_015210:exon15:c.A3684G:p.G1228G exonic ENSG00000168502 NA synonymous SNV ENSG00000168502:ENST00000518815:exon9:c.A1659G:p.G553G,ENSG00000168502:ENST00000306329:exon13:c.A4641G:p.G1547G,ENSG00000168502:ENST00000517570:exon13:c.A3561G:p.G1187G,ENSG00000168502:ENST00000400050:exon14:c.A3561G:p.G1187G,ENSG00000168502:ENST00000359865:exon15:c.A3684G:p.G1228G,ENSG00000168502:ENST00000306285:exon16:c.A1659G:p.G553G NA NA 18p11.22 NA Name=Pol2 NA NA rs581894 0.6 0.6 0.58 0.589058 0.6342 0.4038 0.6441 0.7617 0.4611 0.64 0.42 0.62 0.74 0.5897 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24847 NA NA 0.594922 0.723056 ID=COSM438417;OCCURENCE=1(breast) 0.645 NA 4.8478446 1167 8 41580636 41580636 T C intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA Name=8 NA rs17661203 0.03 0.03 0.024 0.0225639 0.0537 0.001 0.0504 0.0113 0.0082 0.06 NA 0.04 0.02 0.0446 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976554 NA NA 0.05407 0.019746 NA 0.109 NA 4.84763 1167 1 86965419 86965419 T C exonic CLCA1 NA synonymous SNV CLCA1:NM_001285:exon14:c.T2436C:p.T812T exonic ENSG00000016490 NA synonymous SNV ENSG00000016490:ENST00000394711:exon14:c.T2436C:p.T812T,ENSG00000016490:ENST00000234701:exon15:c.T2436C:p.T812T NA NA 1p22.3 NA NA NA NA rs1882753 0.35 0.35 0.34 0.352636 0.2604 0.5446 0.2291 0.2837 0.4305 0.26 0.54 0.25 0.34 0.2985 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470462 NA NA 0.260233 0.266349 NA 0.348 NA 4.8475336 1167 19 48722180 48722180 C T exonic CARD8 NA synonymous SNV CARD8:NM_001184900:exon9:c.G1251A:p.E417E,CARD8:NM_001184901:exon9:c.G1101A:p.E367E,CARD8:NM_014959:exon10:c.G1101A:p.E367E exonic ENSG00000105483 NA synonymous SNV ENSG00000105483:ENST00000357778:exon8:c.G426A:p.E142E,ENSG00000105483:ENST00000359009:exon8:c.G933A:p.E311E,ENSG00000105483:ENST00000391898:exon9:c.G1251A:p.E417E,ENSG00000105483:ENST00000447740:exon9:c.G1101A:p.E367E,ENSG00000105483:ENST00000520153:exon10:c.G1101A:p.E367E,ENSG00000105483:ENST00000521613:exon10:c.G1101A:p.E367E,ENSG00000105483:ENST00000519940:exon12:c.G1251A:p.E417E NA NA 19q13.33 NA NA NA NA rs10500299 0.22 0.22 0.203 0.259585 0.2465 0.1766 0.3487 0.2042 0.3701 0.25 0.16 0.31 0.18 0.2904 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566251 NA NA 0.282442 0.208806 NA 0.152 NA 4.8473246 1167 16 66599773 66599773 T G intronic CKLF,CKLF-CMTM1 NA NA NA intronic ENSG00000217555,ENSG00000254788 NA NA NA NA NA 16q21 NA NA Name=2 NA rs2232728 0.08 0.08 0.077 0.0994409 0.0497 0.1101 0.1427 0.0991 0.1094 0.05 0.11 0.13 0.08 0.0744 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050869 NA NA 0.028605 0.098819 ID=COSN165233;OCCURENCE=1(breast) 0.051 NA 4.847295 1167 9 117253973 117253973 T C intronic DFNB31 NA NA NA ncRNA_exonic ENSG00000271214 NA NA NA Score=445;Name=lod=86 NA 9q32 NA NA NA NA rs7036125 0.43 0.43 0.411 0.412141 0.4861 0.4067 0.4424 0.3404 0.4172 0.49 0.43 0.43 0.31 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707573 NA NA NA NA NA 0.464 NA 4.8472333 1167 5 126506531 126506531 A T intergenic C5orf63,MEGF10 dist=97347;dist=119925 NA NA ncRNA_exonic ENSG00000250080 NA NA NA Score=730;Name=lod=1238 NA 5q23.2 NA NA NA NA rs12188873 0.07 0.07 0.068 0.0499201 0.1531 0.004 0.0908 0.003 0.0256 0.15 0.0017 0.09 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033064 NA NA NA NA NA 0.072 NA 4.8469 1167 6 33768726 33768726 A T intronic MLN NA NA NA intronic ENSG00000096395 NA NA NA NA NA 6p21.31 NA Name=ERalpha_a NA NA rs34884883 0.09 0.09 0.088 0.0746805 0.1531 0.0516 0.134 0.0113 0.0613 0.16 0.06 0.12 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305492 NA NA NA NA NA 0.08 NA 4.8469 1167 18 60083076 60083076 G C intergenic TNFRSF11A,ZCCHC2 dist=28133;dist=107582 NA NA ncRNA_exonic ENSG00000241088 NA NA NA Score=746;Name=lod=1438 NA 18q21.33 NA NA NA NA rs2980977 0.2 0.2 0.188 0.244808 0.1531 0.2272 0.1556 0.2307 0.4397 0.15 0.27 0.19 0.19 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2931 NA NA NA NA NA 0.217 NA 4.8469 1167 20 49747788 49747788 A C intergenic KCNG1,NFATC2 dist=108113;dist=255706 NA NA ncRNA_exonic ENSG00000228820 NA NA NA Score=786;Name=lod=2086 NA 20q13.13 NA NA NA NA rs13040884 0.07 0.07 0.066 0.066893 0.1531 0.0198 0.0504 0.0219 0.0992 0.15 0.02 0.06 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393325 NA NA NA NA NA 0.109 NA 4.8469 1167 20 49747942 49747942 A T intergenic KCNG1,NFATC2 dist=108267;dist=255552 NA NA ncRNA_exonic ENSG00000228820 NA NA NA Score=786;Name=lod=2086 NA 20q13.13 NA NA NA NA rs34182648 0.07 0.07 0.076 0.066893 0.1531 0.0198 0.0504 0.0219 0.0992 0.15 0.02 0.06 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106237 NA NA NA NA NA 0.109 NA 4.8469 1167 18 48586344 48586344 C T intronic SMAD4 NA NA NA intronic ENSG00000141646 NA NA NA NA NA 18q21.2 NA NA Name=2 NA rs948588 0.05 0.05 0.051 0.038738 0.0805 0.0446 0.0288 0.0015 0.047 0.08 0.05 0.03 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31553 NA NA 0.07291 0.013728 NA 0.036 NA 4.84659 1167 1 55517940 55517940 G A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs11800231 0.08 0.08 0.082 0.0828674 0.0527 0.0268 0.0533 0.1899 0.0481 0.05 0.03 0.05 0.18 0.0549 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155727 NA NA 0.045814 0.169995 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=single;CLNACC=RCV000030350.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:398036000 4.846586 1167 6 29912968 29912968 C G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs3823339 0.04 0.04 0.042 0.0411342 0.0477 0.0387 0.0231 0.0378 0.0542 0.05 0.05 0.02 0.04 0.0523 0.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075788 NA NA 0.053488 0.03291 NA 0.022 NA 4.846512 1167 6 162990039 162990039 T C intronic PARK2 NA NA NA ncRNA_exonic ENSG00000227913 NA NA NA Score=588;Name=lod=328 NA 6q26 NA NA NA NA rs6919746 0.55 0.55 0.505 0.578674 0.4871 0.7143 0.5389 0.5461 0.6053 0.46 0.71 0.52 0.52 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109382 NA NA NA NA NA NA NA 4.8462333 1167 6 162990446 162990446 A G intronic PARK2 NA NA NA ncRNA_exonic ENSG00000227913 NA NA NA Score=674;Name=lod=732 NA 6q26 NA NA NA NA rs10945847 0.57 0.57 0.546 0.579872 0.4871 0.7143 0.5389 0.5507 0.6053 0.48 0.74 0.54 0.54 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344435 NA NA NA NA NA 0.587 NA 4.8462333 1167 1 26799941 26799941 A G intronic HMGN2 NA NA NA intronic ENSG00000198830 NA NA NA NA NA 1p36.11 NA Name=HA-E2F1 NA NA rs2255389 0.07 0.07 0.048 0.0688898 0.0447 0.0476 0.1268 0.0703 0.0726 0.05 0.06 0.12 0.07 0.065 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516178 NA NA 0.044302 0.061961 NA 0.036 NA 4.845998 1167 11 74419378 74419378 C T exonic CHRDL2 NA synonymous SNV CHRDL2:NM_015424:exon5:c.G495A:p.P165P exonic ENSG00000054938 NA nonsynonymous SNV ENSG00000054938:ENST00000376324:exon3:c.G341A:p.R114H NA NA 11q13.4 NA NA NA NA rs7948433 0.39 0.39 0.379 0.333866 0.3807 0.5357 0.5677 0.1346 0.181 0.39 0.56 0.53 0.1 0.3971 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.923796 1.923796 0.07 0.376281 0.175774 NA 0.312 NA 4.845919 1167 1 220331319 220331319 T G intronic RAB3GAP2 NA NA NA intronic ENSG00000118873 NA NA NA NA NA 1q41 NA NA Name=18 NA rs3767654 0.14 0.14 0.124 0.122804 0.1541 0.125 0.245 0.0129 0.1503 0.15 0.16 0.23 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.871744 NA NA NA NA NA 0.058 NA 4.8459 1167 7 154862621 154862621 T A exonic HTR5A NA synonymous SNV HTR5A:NM_024012:exon1:c.T12A:p.P4P exonic ENSG00000157219 NA synonymous SNV ENSG00000157219:ENST00000287907:exon1:c.T12A:p.P4P NA NA 7q36.2 NA NA NA NA rs6320 0.28 0.28 0.282 0.256989 0.2734 0.3492 0.2075 0.211 0.2423 0.27 0.37 0.22 0.22 0.265 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111074 NA NA 0.282442 0.20926 ID=COSM150432;OCCURENCE=1(stomach) 0.29 NA 4.8458246 1167 20 30954295 30954295 A G intronic ASXL1 NA NA NA intronic ENSG00000171456 NA NA NA NA NA 20q11.21 NA Name=BATF,IRF4_(M-17),PU.1 Name=8 NA rs2295454 0.42 0.42 0.384 0.408746 0.3499 0.744 0.4337 0.1672 0.4325 0.36 0.74 0.37 0.17 0.419 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002201 NA NA 0.385581 0.194054 NA 0.21 NA 4.845519 1168 8 82547211 82547211 G A intergenic FABP12,IMPA1 dist=103661;dist=21940 NA NA ncRNA_exonic ENSG00000205184 NA NA NA Score=486;Name=lod=126 NA 8q21.13 NA NA NA NA rs2912818 0.24 0.24 0.205 0.192692 0.1551 0.5853 0.1556 0.0151 0.093 0.16 0.58 0.14 0.03 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.705923 NA NA NA NA NA 0.167 NA 4.8449 1168 5 135276847 135276847 T C exonic FBXL21 NA unknown UNKNOWN exonic ENSG00000164616 NA unknown UNKNOWN Score=507;Name=lod=153 NA 5q31.1 Score=769;Name=V$AHRARNT_02 NA NA NA rs31547 0.72 0.72 0.679 0.734425 0.7078 0.7827 0.7637 0.6437 0.8139 0.72 0.78 0.73 0.64 0.735 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271745 NA NA 0.712509 0.670412 NA 0.623 NA 4.844691 1168 3 118645113 118645113 G C intronic IGSF11 NA NA NA intronic ENSG00000144847 NA NA NA Score=295;Name=lod=21 NA 3q13.32 NA NA NA NA rs74997453 0.07 0.07 0.043 0.0519169 0.0487 0.0556 0.196 0.0045 0.0133 0.05 0.07 0.19 0.01 0.0603 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.368084 5.368084 NA 0.046628 0.013391 NA 0.051 NA 4.844372 1168 21 41142940 41142940 G A exonic IGSF5 NA synonymous SNV IGSF5:NM_001080444:exon4:c.G516A:p.P172P exonic ENSG00000183067 NA synonymous SNV ENSG00000183067:ENST00000380588:exon4:c.G516A:p.P172P NA NA 21q22.2 NA NA NA NA rs2837200 0.13 0.13 0.097 0.101637 0.2873 NA 0.1412 0.0121 0.1084 0.27 NA 0.16 0.02 0.2193 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206453 NA NA 0.315814 0.05901 NA 0.13 NA 4.8442526 1168 17 20163529 20163529 A G exonic SPECC1 NA synonymous SNV SPECC1:NM_001033555:exon10:c.A2619G:p.A873A,SPECC1:NM_001033553:exon12:c.A2862G:p.A954A,SPECC1:NM_001243439:exon12:c.A2862G:p.A954A exonic ENSG00000128487 NA synonymous SNV ENSG00000128487:ENST00000536879:exon9:c.A882G:p.A294A,ENSG00000128487:ENST00000395530:exon10:c.A2619G:p.A873A,ENSG00000128487:ENST00000261503:exon12:c.A2862G:p.A954A,ENSG00000128487:ENST00000395527:exon12:c.A2862G:p.A954A Score=630;Name=lod=484 NA 17p11.2 NA NA NA NA rs2703791 0.79 0.79 0.819 0.819289 0.5716 0.9861 0.6686 0.9713 0.8037 0.59 0.99 0.64 0.97 0.6741 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237862 1.237862 NA 0.576977 0.909442 NA 0.732 NA 4.8439896 1168 4 110268476 110268476 G C intergenic COL25A1,SEC24B-AS1 dist=44677;dist=82643 NA NA ncRNA_exonic ENSG00000249465 NA NA NA Score=702;Name=lod=947 NA 4q25 NA NA NA NA rs28542804 0.23 0.23 0.27 0.246006 0.1561 0.0446 0.134 0.6263 0.1115 0.15 0.05 0.14 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.21093 2.21093 NA NA NA NA 0.37 NA 4.8439 1168 8 29885928 29885928 C G intergenic MIR3148,MIR548O2 dist=71064;dist=34330 NA NA ncRNA_exonic ENSG00000254013 NA NA NA Score=798;Name=lod=2339 NA 8p12 NA NA NA NA rs10113613 NA NA 0.147 0.139177 0.1561 0.1022 0.0965 0.1717 0.1462 NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116209 NA NA NA NA ID=COSN168305;OCCURENCE=1(large_intestine) 0.109 NA 4.8439 1168 12 63114156 63114156 A G intronic PPM1H NA NA NA intronic ENSG00000111110 NA NA NA NA NA 12q14.2 Score=958;Name=V$P53_02 NA NA NA rs2270484 0.18 0.18 0.163 0.191893 0.1561 0.2599 0.2695 0.1082 0.2168 0.15 0.24 0.23 0.1 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.346895 2.346895 NA NA NA NA 0.094 NA 4.8439 1168 13 52520627 52520627 C G intronic ATP7B NA NA NA intronic ENSG00000123191 NA NA NA NA NA 13q14.3 NA NA NA NA rs7325983 0.1 0.1 0.096 0.113618 0.0398 0.0397 0.0836 0.267 0.0798 0.03 0.04 0.09 0.27 0.072 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713859 NA NA 0.044375 0.202213 NA 0.087 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029358.1|RCV000078045.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 4.843825 1168 19 17338033 17338033 C T intronic OCEL1 NA NA NA intronic ENSG00000099330 NA NA NA NA NA 19p13.11 NA Name=TAF1,ZBTB7A_(SC-34508),USF-1 Name=8 NA rs891202 0.49 0.49 0.471 0.466853 0.3757 0.5317 0.4726 0.5537 0.3722 0.38 0.54 0.46 0.62 0.4086 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760966 NA NA 0.372147 0.532698 NA 0.333 NA 4.843553 1168 5 118988269 118988269 A G intergenic FAM170A,PRR16 dist=16752;dist=811750 NA NA ncRNA_exonic ENSG00000250895 NA NA NA Score=787;Name=lod=2111 NA 5q23.1 NA NA NA NA rs1820725 0.1 0.1 0.093 0.104433 0.1571 0.0784 0.098 0.0038 0.2178 0.17 0.07 0.11 0.0041 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098314 NA NA NA NA NA 0.058 NA 4.8429 1168 8 82529812 82529812 C T intergenic FABP12,IMPA1 dist=86262;dist=39339 NA NA ncRNA_exonic ENSG00000254151 NA NA NA Score=458;Name=lod=97 NA 8q21.13 NA NA NA NA rs2955027 0.23 0.23 0.199 0.190695 0.1571 0.5873 0.1513 0.0061 0.0941 0.16 0.59 0.14 0.02 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451641 NA NA NA NA NA 0.145 NA 4.8429 1168 8 82529873 82529873 G A intergenic FABP12,IMPA1 dist=86323;dist=39278 NA NA ncRNA_exonic ENSG00000254151 NA NA NA Score=604;Name=lod=379 NA 8q21.13 NA NA NA NA rs2912822 0.23 0.23 0.205 0.190895 0.1571 0.5873 0.1513 0.0061 0.0951 0.16 0.59 0.14 0.02 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138878 NA NA NA NA NA 0.145 NA 4.8429 1168 11 7441952 7441952 A G intronic SYT9 NA NA NA intronic ENSG00000170743 NA NA NA NA NA 11p15.4 NA NA Name=4 NA rs11041373 0.19 0.19 0.181 0.174321 0.1571 0.3214 0.1326 0.1331 0.1258 0.15 0.31 0.14 0.13 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.524755 NA NA NA NA ID=COSN163877;OCCURENCE=1(breast) 0.13 NA 4.8429 1168 20 30147554 30147554 C A intronic HM13 NA NA NA intronic ENSG00000101294 NA NA NA NA NA 20q11.21 NA Name=Egr-1 NA NA rs6058103 0.26 0.26 0.292 0.272764 0.1571 NA 0.1816 0.7905 0.0378 0.16 NA 0.2 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281846 NA NA NA NA NA 0.326 NA 4.8429 1168 22 36556698 36556698 C T intronic APOL3 NA NA NA intronic ENSG00000128284 NA NA NA NA NA 22q12.3 NA Name=Oct-2,Pol2,POU2F2,TBP NA NA rs45577431 0.04 0.04 0.045 0.0305511 0.0537 0.0268 0.036 0.0189 0.0225 0.05 0.03 0.04 0.03 0.0448 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207342 NA NA 0.058605 0.022923 NA 0.109 NA 4.842895 1168 6 151686905 151686905 C T exonic ZBTB2 NA synonymous SNV ZBTB2:NM_020861:exon3:c.G1296A:p.E432E exonic ENSG00000181472 NA synonymous SNV ENSG00000181472:ENST00000325144:exon3:c.G1296A:p.E432E Score=410;Name=lod=62 NA 6q25.1 NA NA NA NA rs11155787 0.47 0.47 0.451 0.423922 0.6382 0.2778 0.5447 0.3517 0.3661 0.64 0.33 0.56 0.33 0.5488 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032161 NA NA 0.63686 0.393781 NA 0.507 NA 4.8428066 1168 16 68721470 68721470 T C exonic CDH3 NA synonymous SNV CDH3:NM_001793:exon12:c.T1626C:p.N542N exonic ENSG00000062038 NA synonymous SNV ENSG00000062038:ENST00000581171:exon11:c.T1461C:p.N487N,ENSG00000062038:ENST00000264012:exon12:c.T1626C:p.N542N,ENSG00000062038:ENST00000429102:exon12:c.T1626C:p.N542N NA NA 16q22.1 Score=752;Name=V$PPARA_01 NA NA NA rs2296405 0.62 0.62 0.606 0.597444 0.6173 0.5536 0.5476 0.6657 0.5654 0.62 0.58 0.57 0.69 0.5881 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131212 NA NA 0.618488 0.670382 NA 0.703 NA 4.8427786 1168 14 20444193 20444193 A C exonic OR4K15 NA synonymous SNV OR4K15:NM_001005486:exon1:c.A516C:p.S172S exonic ENSG00000169488 NA synonymous SNV ENSG00000169488:ENST00000305051:exon1:c.A516C:p.S172S NA NA 14q11.2 NA NA NA NA rs2318556 0.32 0.32 0.329 0.376398 0.2435 0.1498 0.2017 0.7481 0.3681 0.25 0.14 0.19 0.72 0.2958 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359693 NA NA 0.284601 0.690649 NA 0.413 NA 4.8427656 1168 17 43003484 43003484 T C exonic KIF18B NA synonymous SNV KIF18B:NM_001265577:exon16:c.A2523G:p.A841A exonic ENSG00000186185 NA synonymous SNV ENSG00000186185:ENST00000339151:exon16:c.A2532G:p.A844A,ENSG00000186185:ENST00000593135:exon16:c.A2523G:p.A841A NA NA 17q21.31 NA NA NA NA rs3169733 0.27 0.27 0.31 0.359026 0.2445 0.1488 0.3098 0.5779 0.4325 0.22 0.14 0.31 0.48 0.3049 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136089 NA NA 0.274656 0.51352 NA 0.283 NA 4.8426106 1168 5 95236415 95236415 G A exonic ELL2 NA synonymous SNV ELL2:NM_012081:exon7:c.C936T:p.D312D exonic ENSG00000118985 NA synonymous SNV ENSG00000118985:ENST00000513343:exon4:c.C390T:p.D130D,ENSG00000118985:ENST00000237853:exon7:c.C936T:p.D312D NA NA 5q15 NA NA NA NA rs17085249 0.33 0.33 0.34 0.340655 0.2793 0.4325 0.2406 0.3654 0.3466 0.29 0.43 0.23 0.35 0.2835 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.747109 NA NA 0.261279 0.341126 ID=COSM1132083;OCCURENCE=1(prostate) 0.377 NA 4.8425876 1168 8 142229891 142229891 A G exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon3:c.T315C:p.I105I exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon3:c.T315C:p.I105I,ENSG00000022567:ENST00000433583:exon3:c.T294C:p.I98I,ENSG00000022567:ENST00000517878:exon3:c.T468C:p.I156I,ENSG00000022567:ENST00000519067:exon3:c.T315C:p.I105I,ENSG00000022567:ENST00000519986:exon3:c.T261C:p.I87I NA NA 8q24.3 Score=841;Name=V$MRF2_01 NA NA NA rs2304279 0.7 0.7 0.666 0.703474 0.6014 0.8175 0.585 0.8003 0.6442 0.58 0.81 0.65 0.79 0.6504 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904787 NA NA 0.572359 0.782431 NA 0.667 NA 4.8425076 1168 18 60110098 60110098 G A intergenic TNFRSF11A,ZCCHC2 dist=55155;dist=80560 NA NA ncRNA_exonic ENSG00000266920 NA NA NA Score=860;Name=lod=4160 NA 18q21.33 NA NA NA NA rs3744929 0.26 0.26 0.237 0.273363 0.1581 0.4286 0.3372 0.1619 0.3374 0.17 0.41 0.29 0.18 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072284 NA NA NA NA NA 0.181 NA 4.8419 1168 18 60110160 60110160 G A intergenic TNFRSF11A,ZCCHC2 dist=55217;dist=80498 NA NA ncRNA_exonic ENSG00000266920 NA NA NA Score=860;Name=lod=4160 NA 18q21.33 NA NA NA NA rs3744928 0.26 0.26 0.23 0.273962 0.1581 0.4296 0.3357 0.1619 0.3405 0.17 0.41 0.29 0.18 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023836 NA NA NA NA NA 0.181 NA 4.8419 1168 19 36015521 36015521 C T intronic SBSN NA NA NA intronic ENSG00000189001 NA NA NA NA NA 19q13.12 NA Name=NRSF NA NA rs58183088 0.11 0.11 0.101 0.118411 0.1581 0.0446 0.0994 0.1331 0.1472 0.15 0.04 0.11 0.11 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174546 NA NA NA NA NA 0.109 NA 4.8419 1168 20 34142670 34142670 T G intronic ERGIC3 NA NA NA intronic ENSG00000125991 NA NA NA NA NA 20q11.22 Score=815;Name=V$GRE_C NA NA NA rs73283830 0.15 0.15 0.144 0.192492 0.1581 0.1399 0.1657 0.1899 0.3047 0.14 0.13 0.18 0.17 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59063 NA NA NA NA NA 0.13 NA 4.8419 1168 7 124116470 124116470 A G intergenic TMEM229A,GPR37 dist=442947;dist=269185 NA NA ncRNA_exonic ENSG00000230268 NA NA NA Score=547;Name=lod=223 NA 7q31.33 NA NA NA NA rs2402730 0.16 0.16 0.111 0.180112 0.0268 0.4266 0.1542 0.0651 0.2577 0.03 0.42 0.14 0.08 0.1045 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.113204 2.113204 0.46 0.026834 0.062561 NA 0.094 NA 4.841866 1168 11 17139255 17139255 G T intronic PIK3C2A NA NA NA intronic ENSG00000011405 NA NA NA Score=349;Name=lod=35 NA 11p15.1 NA NA NA NA rs147891939 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1582 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37106 NA NA NA NA NA 0.116 NA 4.8418 1168 12 113424893 113424893 C G exonic OAS2 NA synonymous SNV OAS2:NM_001032731:exon2:c.C228G:p.T76T,OAS2:NM_002535:exon2:c.C228G:p.T76T,OAS2:NM_016817:exon2:c.C228G:p.T76T exonic ENSG00000111335 NA synonymous SNV ENSG00000111335:ENST00000342315:exon2:c.C228G:p.T76T,ENSG00000111335:ENST00000392583:exon2:c.C228G:p.T76T,ENSG00000111335:ENST00000449768:exon2:c.C228G:p.T76T NA NA 12q24.13 NA NA NA NA rs2072138 0.22 0.22 0.205 0.21905 0.2753 0.0863 0.3401 0.2141 0.2188 0.29 0.11 0.29 0.21 0.2618 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144726 NA NA 0.287791 0.235361 NA 0.232 NA 4.8417756 1168 11 64070930 64070930 T C intronic TEX40 NA NA NA ncRNA_intronic ENSG00000257069 NA NA NA NA NA 11q13.1 NA NA Name=9 NA rs66968227 0.11 0.11 0.095 0.0882588 0.16 0.1071 0.1182 0.0242 0.0603 0.16 0.11 0.12 0.02 0.1795 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548696 NA NA 0.152458 0.048184 NA 0.058 NA 4.8413753 1168 14 74876501 74876501 G C UTR5 SYNDIG1L NM_001105579:c.-54C>G NA NA UTR5 ENSG00000183379 ENST00000331628:c.-54C>G,ENST00000554823:c.-54C>G,ENST00000554953:c.-54C>G NA NA Score=336;Name=lod=31 NA 14q24.3 NA NA NA NA rs4026651 0.42 0.42 0.39 0.399161 0.492 0.3185 0.4121 0.3457 0.4499 0.51 0.33 0.46 0.37 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016776 NA NA NA NA NA 0.391 NA 4.8413334 1168 6 30030135 30030135 G A intronic ZNRD1 NA NA NA intronic ENSG00000066379 NA NA NA NA NA 6p22.1 NA NA Name=4 NA rs9261270 0.05 0.05 0.05 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 0.0502 0.058 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449516 NA NA 0.057955 0.051291 NA 0.029 NA 4.841145 1168 5 86180557 86180557 A G intergenic COX7C,MIR4280 dist=263974;dist=230139 NA NA ncRNA_exonic ENSG00000242477 NA NA NA Score=776;Name=lod=1902 NA 5q14.3 NA NA NA NA rs2452757 0.12 0.12 0.101 0.116014 0.159 0.001 0.0793 0.2186 0.0777 0.17 0.0017 0.1 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339481 NA NA NA NA NA 0.072 NA 4.841 1168 15 99903547 99903547 G A intronic LRRC28 NA NA NA intronic ENSG00000168904 NA NA NA NA NA 15q26.3 NA Name=MafK_(ab50322) NA NA rs62023858 0.11 0.11 0.106 0.10024 0.159 0.0645 0.0879 0.0893 0.1002 0.16 0.07 0.09 0.07 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021445 NA NA NA NA NA 0.043 NA 4.841 1168 6 97575196 97575196 C T ncRNA_intronic MIR548H3 NA NA NA intronic ENSG00000186231 NA NA NA Score=391;Name=lod=52 NA 6q16.1 NA NA NA NA rs2206094 0.47 0.47 0.494 0.53115 0.493 0.246 0.4063 0.8162 0.5675 0.48 0.22 0.4 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.33078 3.33078 NA NA NA NA 0.572 NA 4.8403333 1168 19 282875 282875 G A intronic PPAP2C NA NA NA intronic ENSG00000141934 NA NA NA NA NA 19p13.3 NA Name=PU.1 NA NA rs62103050 0.04 0.04 0.036 0.0301518 0.0736 0.002 0.0375 0.0015 0.0481 0.08 0.0017 0.05 0.002 NA 0.086 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116582 NA NA 0.086109 0.014451 NA 0.029 NA 4.840291 1168 18 48586184 48586184 A G intronic SMAD4 NA NA NA intronic ENSG00000141646 NA NA NA NA NA 18q21.2 NA NA NA NA rs948589 0.03 0.03 0.036 0.0295527 0.0805 NA 0.0274 0.0015 0.047 0.08 NA 0.03 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651456 NA NA 0.079307 0.012763 NA 0.036 CLINSIG=non-pathogenic;CLNDBN=Juvenile_polyposis_syndrome;CLNREVSTAT=single;CLNACC=RCV000021697.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT;CLNDSDBID=NBK1469:C0345893:174900:ORPHA2929:ORPHA329971:9273005 4.840193 1168 14 91142817 91142817 G A intronic TTC7B NA NA NA intronic ENSG00000165914 NA NA NA NA NA 14q32.11 NA NA Name=4 NA rs80256733 0.03 0.03 0.029 0.0257588 0.0626 0.0079 0.0303 0.003 0.0337 0.06 0.01 0.02 0.01 0.0427 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002345 NA NA 0.054535 0.010894 NA 0.022 NA 4.840165 1168 12 125437019 125437019 T C exonic DHX37 NA synonymous SNV DHX37:NM_032656:exon21:c.A2793G:p.A931A exonic ENSG00000150990 NA synonymous SNV ENSG00000150990:ENST00000544745:exon18:c.A2154G:p.A718A,ENSG00000150990:ENST00000308736:exon21:c.A2793G:p.A931A Score=433;Name=lod=77 NA 12q24.31 NA NA NA NA rs4429156 0.63 0.63 0.537 0.65615 0.5994 0.8462 0.6571 0.4448 0.8037 0.59 0.84 0.64 0.42 0.6397 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.344301 2.344301 NA 0.587442 0.442805 NA 0.457 NA 4.8401246 1168 2 81424517 81424517 C T intergenic CTNNA2,LOC1720 dist=548529;dist=1659410 NA NA ncRNA_exonic ENSG00000234429 NA NA NA Score=589;Name=lod=331 NA 2p12 NA NA NA NA rs10177950 0.15 0.15 0.13 0.138578 0.16 0.1845 0.2262 0.0174 0.1708 0.16 0.2 0.24 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036533 NA NA NA NA ID=COSN166151;OCCURENCE=1(breast) 0.094 NA 4.84 1168 4 81001542 81001542 C T intergenic ANTXR2,PRDM8 dist=7065;dist=104882 NA NA ncRNA_exonic ENSG00000236530 NA NA NA Score=569;Name=lod=273 NA 4q21.21 NA NA NA NA rs4234850 0.46 0.46 0.48 0.503594 0.16 0.6379 0.3372 0.8033 0.4315 0.15 0.65 0.31 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142662 NA NA NA NA NA 0.543 NA 4.84 1168 10 54173157 54173157 A G intergenic DKK1,MBL2 dist=95740;dist=351983 NA NA ncRNA_exonic ENSG00000227972 NA NA NA Score=512;Name=lod=160 NA 10q21.1 NA NA NA NA rs11813600 0.11 0.11 0.101 0.0880591 0.16 0.1518 0.0677 0.0091 0.0695 0.15 0.15 0.09 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.872666 1.872666 NA NA NA NA 0.058 NA 4.84 1168 19 20235929 20235929 G A intergenic ZNF90,ZNF486 dist=3952;dist=42094 NA NA ncRNA_exonic ENSG00000224864 NA NA NA Score=524;Name=lod=180 NA 19p12 NA NA NA NA rs1654280 0.37 0.37 0.368 0.379992 0.16 0.4444 0.2795 0.6581 0.2352 0.18 0.48 0.25 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068545 NA NA NA NA NA 0.254 NA 4.84 1168 9 140002187 140002187 C T intronic MAN1B1 NA NA NA exonic ENSG00000177239 NA unknown UNKNOWN NA NA 9q34.3 NA NA NA NA rs12000517 0.24 0.24 0.25 0.254792 0.3499 0.0109 0.2363 0.3336 0.3149 0.35 0.01 0.25 0.35 0.3104 0.35 . . . . . . . . 1.000 P . . . . -0.959 T 0.000 T . 0.199 5.071 1.64 0.254 0.270 6.534 0.198683 NA NA NA NA NA 0.377 NA 4.8397 1168 6 30314607 30314607 A G UTR3 RPP21,TRIM39-RPP21 NM_024839:c.*20A>G,NM_001199121:c.*57A>G,NM_001199120:c.*20A>G;NM_001199119:c.*20A>G NA NA UTR3 ENSG00000241370,ENSG00000248167 ENST00000433076:c.*20A>G,ENST00000428040:c.*20A>G,ENST00000442966:c.*20A>G,ENST00000436442:c.*57A>G;ENST00000513556:c.*20A>G NA NA Score=259;Name=lod=15 NA 6p22.1 NA NA NA NA rs974962 0.19 0.19 0.151 0.203275 0.1531 0.4097 0.2161 0.0091 0.2955 0.15 0.38 0.19 0.01 0.1855 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.15071 4.15071 NA 0.155039 0.038716 NA 0.254 NA 4.8396944 1168 1 16952993 16952993 C G ncRNA_exonic CROCCP2 NA NA NA ncRNA_exonic ENSG00000215908 NA NA NA Score=522;Name=lod=176 NA 1p36.13 NA NA NA NA rs942268 NA NA 0.804 0.854433 0.827 0.9643 0.8429 0.8699 0.7566 NA NA NA NA NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001949 NA NA NA NA NA 0.768 NA 4.8396666 1168 15 21937592 21937592 T C ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA Score=468;Name=lod=106 NA 15q11.2 NA NA NA NA rs4984134 NA NA NA 0.856629 0.827 0.8036 0.9006 0.9357 0.8037 NA NA NA NA NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.251959 NA NA NA NA NA 0.928 NA 4.8396666 1168 19 9061559 9061559 C G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.G25887C:p.T8629T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G25887C:p.T8629T NA NA 19p13.2 NA NA NA NA rs1423052 0.39 0.39 0.39 0.383187 0.2525 0.5933 0.4006 0.3472 0.3374 0.26 0.65 0.37 0.32 0.3151 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368706 NA NA 0.259706 0.325863 NA 0.384 NA 4.8393606 1168 10 38108176 38108176 C T intronic ZNF248 NA NA NA ncRNA_exonic ENSG00000228828 NA NA NA Score=814;Name=lod=2706 NA 10p11.1 NA NA NA NA rs200910 0.52 0.52 0.506 0.48103 0.494 0.5754 0.5173 0.5386 0.2669 0.5 0.55 0.5 0.51 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099019 NA NA NA NA NA 0.529 NA 4.8393333 1168 15 42363887 42363887 T C intronic PLA2G4D NA NA NA intronic ENSG00000159337 NA NA NA Score=284;Name=lod=19 NA 15q15.1 NA NA NA NA rs1712402 0.2 0.2 0.198 0.232029 0.161 0.2063 0.1527 0.2723 0.3333 0.16 0.23 0.16 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686015 1.686015 NA NA NA NA 0.217 NA 4.839 1168 20 29873577 29873577 A G intergenic DEFB115,DEFB116 dist=26142;dist=17438 NA NA ncRNA_exonic ENSG00000224628 NA NA NA Score=542;Name=lod=212 NA 20q11.21 NA NA NA NA rs6061028 0.15 0.15 0.176 0.146366 0.161 0.002 0.0879 0.348 0.0491 0.14 0.0017 0.11 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312744 NA NA NA NA NA 0.145 NA 4.839 1168 7 44100373 44100373 C T intronic DBNL NA NA NA intronic ENSG00000136279 NA NA NA Score=445;Name=lod=86 NA 7p13 NA NA NA NA rs17546439 0.03 0.03 0.021 0.0217652 0.0656 NA 0.0504 0.0023 0.0051 0.06 NA 0.06 0.002 0.0372 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.852664 1.852664 NA 0.058256 0.01044 NA 0.116 NA 4.838944 1168 19 57987905 57987905 G A intronic ZNF772 NA NA NA exonic ENSG00000197128 NA stopgain ENSG00000197128:ENST00000450712:exon2:c.C169T:p.R57X NA NA 19q13.43 NA NA NA NA rs2067055 0.4 0.4 0.377 0.41274 0.2783 0.5893 0.451 0.3124 0.4775 0.3 0.64 0.37 0.31 0.3828 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.998598 2.998598 NA NA NA NA 0.326 NA 4.8389 1168 11 10786142 10786142 C T exonic CTR9 NA synonymous SNV CTR9:NM_014633:exon12:c.C1461T:p.H487H exonic ENSG00000198730 NA synonymous SNV ENSG00000198730:ENST00000361367:exon12:c.C1461T:p.H487H Score=602;Name=lod=374 NA 11p15.3 NA NA NA NA rs3736326 0.62 0.62 0.58 0.611621 0.6014 0.7847 0.7608 0.3154 0.7382 0.59 0.82 0.74 0.32 0.6377 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892868 NA NA 0.589078 0.358928 NA 0.543 NA 4.8384886 1168 3 53883722 53883722 C G exonic IL17RB NA synonymous SNV IL17RB:NM_018725:exon3:c.C126G:p.P42P exonic ENSG00000056736 NA synonymous SNV ENSG00000056736:ENST00000288167:exon3:c.C126G:p.P42P,ENSG00000056736:ENST00000494338:exon3:c.C126G:p.P42P Score=376;Name=lod=45 NA 3p21.1 NA NA NA NA rs1025689 0.46 0.46 0.44 0.430112 0.6332 0.4722 0.4597 0.0802 0.6299 0.63 0.51 0.5 0.1 0.5649 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.884982 NA NA 0.630349 0.175897 NA 0.391 NA 4.8382176 1168 12 111785586 111785586 T C exonic CUX2 NA synonymous SNV CUX2:NM_015267:exon22:c.T3918C:p.D1306D exonic ENSG00000111249 NA synonymous SNV ENSG00000111249:ENST00000261726:exon22:c.T3918C:p.D1306D NA NA 12q24.12 NA NA NA NA rs3803167 0.5 0.5 0.471 0.527955 0.2435 0.7639 0.451 0.6195 0.5082 0.24 0.82 0.43 0.61 0.3671 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.062174 NA NA 0.217849 0.536415 NA 0.42 NA 4.8382176 1168 1 201021619 201021619 C G intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA Name=c-Myc NA NA rs12029212 0.26 0.26 0.301 0.27516 0.162 0.122 0.1383 0.6929 0.0818 0.16 0.13 0.15 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599422 NA NA NA NA NA 0.275 NA 4.838 1168 11 90015878 90015878 A G intergenic CHORDC1,MIR4490 dist=59346;dist=273064 NA NA ncRNA_exonic ENSG00000214391 NA NA NA Score=892;Name=lod=5600 NA 11q14.3 NA NA NA NA rs10741332 0.2 0.2 0.153 0.191893 0.162 0.374 0.2752 0.0061 0.227 0.16 0.39 0.26 0.01 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.821532 1.821532 0 NA NA NA 0.167 NA 4.838 1168 12 112230036 112230036 G A intronic ALDH2 NA NA NA intronic ENSG00000111275 NA NA NA NA NA 12q24.12 NA NA Name=40 NA rs4646777 0.2 0.2 0.189 0.197684 0.162 0.2619 0.1513 0.1929 0.2076 0.16 0.27 0.17 0.19 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111831 NA NA NA NA NA 0.196 NA 4.838 1168 16 85121733 85121733 C A intronic KIAA0513 NA NA NA intronic ENSG00000135709 NA NA NA NA NA 16q24.1 NA Name=CTCF NA NA rs3751753 0.28 0.28 0.294 0.301318 0.162 0.2063 0.2795 0.5182 0.2648 0.16 0.24 0.23 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868274 NA NA NA NA NA 0.297 NA 4.838 1168 11 55322211 55322211 A G exonic OR4C15 NA synonymous SNV OR4C15:NM_001001920:exon1:c.A429G:p.K143K exonic ENSG00000181939 NA synonymous SNV ENSG00000181939:ENST00000314644:exon1:c.A429G:p.K143K NA NA 11q11 NA NA NA NA rs9804659 0.28 0.28 0.252 0.252596 0.2833 0.3919 0.3242 0.1014 0.2311 0.29 0.38 0.35 0.1 0.2793 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.099308 NA NA 0.266294 0.127442 NA 0.225 NA 4.8377726 1168 4 7802292 7802292 G A exonic AFAP1 NA synonymous SNV AFAP1:NM_001134647:exon10:c.C1143T:p.T381T,AFAP1:NM_198595:exon10:c.C1143T:p.T381T exonic ENSG00000196526 NA synonymous SNV ENSG00000196526:ENST00000360265:exon9:c.C1143T:p.T381T,ENSG00000196526:ENST00000382543:exon9:c.C1143T:p.T381T,ENSG00000196526:ENST00000358461:exon10:c.C1143T:p.T381T,ENSG00000196526:ENST00000420658:exon10:c.C1143T:p.T381T NA NA 4p16.1 NA NA NA NA rs11728778 0.15 0.15 0.154 0.111621 0.3042 0.0615 0.1484 0.0106 0.0757 0.29 0.07 0.19 0.02 0.2217 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360843 NA NA 0.30314 0.055833 NA 0.123 NA 4.8376266 1168 22 20103189 20103189 T C intronic TRMT2A NA NA NA intronic ENSG00000099899 NA NA NA NA NA 22q11.21 NA Name=ZNF263 NA NA rs79886149 0.04 0.04 0.049 0.0507188 0.0537 0.0813 0.0101 0.0061 0.1053 0.06 0.07 0.01 0.01 0.0546 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060583 NA NA 0.054082 0.012727 NA 0.043 NA 4.837618 1168 1 153604029 153604029 C T intronic S100A1,S100A13 NA NA NA ncRNA_exonic ENSG00000272030 NA NA NA NA NA 1q21.3 NA Name=Egr-1 Name=6 NA rs1046379 0.84 0.84 0.827 0.863419 0.7147 0.8353 0.9049 0.9909 0.8436 0.71 0.83 0.9 0.99 0.7812 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04529 NA NA NA NA NA 0.804 NA 4.8374333 1168 1 3563428 3563428 C T intronic WRAP73 NA NA NA intronic ENSG00000116213 NA NA NA NA NA 1p36.32 NA Name=BCL3,Pbx3 NA NA rs76161888 0.11 0.11 0.109 0.0936502 0.163 0.005 0.1542 0.1074 0.0521 0.17 0.01 0.16 0.11 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313983 NA NA NA NA NA 0.109 NA 4.837 1168 8 28157994 28157994 C G intergenic ELP3,PNOC dist=109325;dist=16655 NA NA ncRNA_exonic ENSG00000239198 NA NA NA Score=797;Name=lod=2307 NA 8p21.1 NA NA NA NA rs1966949 0.15 0.15 0.118 0.147764 0.163 0.1647 0.1153 0.1241 0.1697 0.16 0.17 0.13 0.11 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337326 NA NA NA NA NA 0.116 NA 4.837 1168 20 5513629 5513629 G A intergenic LINC00654,GPCPD1 dist=28387;dist=11451 NA NA ncRNA_exonic ENSG00000225831 NA NA NA Score=712;Name=lod=1043 NA 20p12.3 NA NA NA NA rs16991051 0.12 0.12 0.132 0.127396 0.163 0.0556 0.1297 0.152 0.1299 0.15 0.05 0.13 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333101 NA NA NA NA NA 0.13 NA 4.837 1168 20 18529233 18529233 T A intronic SEC23B NA NA NA intronic ENSG00000101310 NA NA NA NA NA 20p11.23 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs3736775 0.32 0.32 0.302 0.338858 0.3797 0.4345 0.2867 0.1702 0.4632 0.38 0.37 0.27 0.21 0.3838 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110376 NA NA 0.399884 0.219927 NA 0.246 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081404.1;CLNDSDB=.;CLNDSDBID=. 4.836616 1168 17 7477938 7477938 G C exonic EIF4A1 NA synonymous SNV EIF4A1:NM_001204510:exon3:c.G147C:p.A49A,EIF4A1:NM_001416:exon3:c.G147C:p.A49A exonic ENSG00000161960 NA synonymous SNV ENSG00000161960:ENST00000577929:exon2:c.G99C:p.A33A,ENSG00000161960:ENST00000583802:exon2:c.G39C:p.A13A,ENSG00000161960:ENST00000293831:exon3:c.G147C:p.A49A,ENSG00000161960:ENST00000577269:exon3:c.G147C:p.A49A,ENSG00000161960:ENST00000578495:exon3:c.G147C:p.A49A,ENSG00000161960:ENST00000581544:exon3:c.G147C:p.A49A,ENSG00000161960:ENST00000581770:exon3:c.G150C:p.A50A,ENSG00000161960:ENST00000582169:exon3:c.G39C:p.A13A,ENSG00000161960:ENST00000582746:exon3:c.G147C:p.A49A,ENSG00000161960:ENST00000584784:exon3:c.G147C:p.A49A,ENSG00000161960:ENST00000584860:exon3:c.G99C:p.A33A,ENSG00000161960:ENST00000585024:exon3:c.G141C:p.A47A,ENSG00000161960:ENST00000380512:exon4:c.G99C:p.A33A Score=617;Name=lod=431 NA 17p13.1 NA Name=Pol2,Pol2-4H8 NA NA rs1057086 0.84 0.84 0.831 0.796725 0.9672 0.7688 0.7133 0.6422 0.9182 0.97 0.82 0.83 0.66 0.8952 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.871674 2.871674 NA 0.967667 0.716977 NA 0.848 NA 4.8365996 1168 1 19568972 19568972 A G intronic EMC1 NA NA NA intronic ENSG00000127463 NA NA NA Score=461;Name=lod=100 Name=Brain structure 1p36.13 NA NA NA NA rs710865 0.57 0.57 0.564 0.581869 0.3509 0.7401 0.5115 0.7625 0.4622 0.35 0.75 0.46 0.76 0.4483 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.463327 1.463327 NA 0.364302 0.712438 NA 0.572 NA 4.836498 1168 7 63981563 63981563 A G exonic ZNF680 NA synonymous SNV ZNF680:NM_178558:exon4:c.T1569C:p.C523C exonic ENSG00000173041 NA synonymous SNV ENSG00000173041:ENST00000309683:exon4:c.T1569C:p.C523C Score=265;Name=lod=16 NA 7q11.21 NA NA NA NA rs10243954 0.69 0.69 0.689 0.682308 0.5964 0.6379 0.6657 0.8646 0.5818 0.61 0.66 0.67 0.85 0.6233 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298798 NA NA 0.610633 0.829923 ID=COSM1131541;OCCURENCE=1(prostate) 0.638 NA 4.8363336 1168 5 95234377 95234377 C T exonic ELL2 NA synonymous SNV ELL2:NM_012081:exon8:c.G1092A:p.P364P exonic ENSG00000118985 NA synonymous SNV ENSG00000118985:ENST00000237853:exon8:c.G1092A:p.P364P NA NA 5q15 NA NA NA NA rs3777203 0.36 0.36 0.29 0.364617 0.2803 0.4325 0.245 0.4531 0.3466 0.29 0.43 0.24 0.45 0.2904 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689589 NA NA 0.259651 0.418219 NA 0.399 NA 4.8363156 1168 1 228464100 228464100 G A intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA Name=ZNF263 NA NA rs936884 0.2 0.2 0.186 0.207069 0.164 0.1548 0.2536 0.3222 0.1166 0.17 0.15 0.25 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212776 NA NA NA NA NA 0.109 NA 4.836 1168 2 89319556 89319556 C T intergenic MIR4436A,NONE dist=207588;dist=NONE NA NA ncRNA_exonic ENSG00000253278 NA NA NA Score=521;Name=lod=175 NA 2p11.2 NA NA NA NA rs11679378 0.39 0.39 0.283 0.358826 0.164 0.4117 0.3256 0.5053 0.3303 0.23 0.48 0.34 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052558 NA NA NA NA NA 0.312 NA 4.836 1168 7 63230820 63230820 C T intergenic MIR4283-1,LOC100506050 dist=149273;dist=253976 NA NA ncRNA_exonic ENSG00000271466 NA NA NA Score=689;Name=lod=843 NA 7q11.21 NA NA NA NA rs62474973 0.13 0.13 0.09 0.145367 0.164 0.1319 0.1556 0.0825 0.2178 0.15 0.13 0.14 0.08 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067263 NA NA NA NA NA NA NA 4.836 1168 8 28157401 28157401 C T intergenic ELP3,PNOC dist=108732;dist=17248 NA NA ncRNA_exonic ENSG00000239198 NA NA NA Score=797;Name=lod=2307 NA 8p21.1 NA NA NA NA rs2614063 0.15 0.15 0.143 0.14976 0.164 0.1657 0.1153 0.1301 0.1697 0.16 0.17 0.13 0.11 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469732 NA NA NA NA NA 0.109 NA 4.836 1168 12 92924899 92924899 C T intergenic CLLU1,C12orf74 dist=100169;dist=171720 NA NA ncRNA_exonic ENSG00000258262 NA NA NA Score=429;Name=lod=74 NA 12q22 NA NA NA NA rs10859333 0.2 0.2 0.2 0.185903 0.164 0.4018 0.1614 0.0265 0.2188 0.16 0.41 0.17 0.04 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.429026 1.429026 NA NA NA NA 0.116 NA 4.836 1168 6 169640732 169640732 A C intronic THBS2 NA NA NA intronic ENSG00000186340 NA NA NA NA NA 6q27 NA NA Name=39 NA rs13192849 0.16 0.16 0.165 0.175719 0.0398 0.1925 0.1196 0.3933 0.044 0.04 0.16 0.1 0.37 0.0857 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105675 NA NA 0.038837 0.341807 NA 0.116 NA 4.835663 1168 17 39118553 39118553 C T intronic KRT39 NA NA NA ncRNA_intronic ENSG00000234477 NA NA NA NA NA 17q21.2 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs4890151 0.2 0.2 0.208 0.225639 0.161 0.0327 0.1801 0.4569 0.2106 0.16 0.04 0.17 0.46 0.1784 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738305 NA NA 0.158403 0.413073 NA 0.225 NA 4.8355303 1168 12 1866799 1866799 C A intronic ADIPOR2 NA NA NA ncRNA_exonic ENSG00000243663 NA NA NA Score=801;Name=lod=2399 NA 12p13.33 NA NA NA NA rs2108642 0.59 0.59 0.584 0.608027 0.498 0.5962 0.6412 0.7103 0.5716 0.48 0.59 0.63 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080641 NA NA NA NA NA 0.514 NA 4.8353333 1168 20 17474791 17474791 G A exonic BFSP1 NA synonymous SNV BFSP1:NM_001161705:exon8:c.C1551T:p.T517T,BFSP1:NM_001195:exon8:c.C1926T:p.T642T exonic ENSG00000125864 NA synonymous SNV ENSG00000125864:ENST00000377868:exon8:c.C1551T:p.T517T,ENSG00000125864:ENST00000377873:exon8:c.C1926T:p.T642T,ENSG00000125864:ENST00000544874:exon9:c.C1509T:p.T503T,ENSG00000125864:ENST00000536626:exon10:c.C1509T:p.T503T NA NA 20p12.1 NA NA NA NA rs6080717 0.2 0.2 0.211 0.205871 0.2962 0.0665 0.2205 0.2315 0.2117 0.29 0.05 0.25 0.22 0.2463 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173413 NA NA 0.288837 0.252383 ID=COSM149146;OCCURENCE=1(stomach) 0.283 NA 4.8353296 1168 2 225265645 225265645 G A intronic FAM124B NA NA NA intronic ENSG00000124019 NA NA NA NA NA 2q36.2 NA Name=GATA-1 NA NA rs13010329 0.18 0.18 0.171 0.182907 0.165 0.2609 0.2363 0.0703 0.2352 0.16 0.27 0.25 0.07 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205398 NA NA NA NA NA 0.138 NA 4.835 1168 8 95792447 95792447 A C intronic DPY19L4 NA NA NA intronic ENSG00000156162 NA NA NA Score=265;Name=lod=16 NA 8q22.1 NA NA NA NA rs12056667 0.14 0.14 0.121 0.157348 0.165 0.1706 0.2133 0.0688 0.2157 0.16 0.17 0.16 0.05 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241189 1.241189 NA NA NA NA 0.072 NA 4.835 1168 19 5776063 5776063 C T intronic CATSPERD NA NA NA intronic ENSG00000174898 NA NA NA NA NA 19p13.3 NA Name=GATA3_(SC-268) NA NA rs10417703 0.26 0.26 0.215 0.275559 0.165 0.5486 0.1787 0.1952 0.2853 0.17 0.5 0.19 0.19 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120806 NA NA NA NA NA 0.232 NA 4.835 1169 16 81209207 81209207 T C intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA Name=MafF_(M8194),MafK_(SC-477),p300,JunD,MafK_(ab50322) Name=85 NA rs2317114 0.52 0.52 0.499 0.551917 0.3489 0.752 0.5231 0.5212 0.6166 0.36 0.76 0.49 0.52 0.4556 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77307 NA NA 0.360618 0.476214 NA 0.623 NA 4.834882 1169 15 34634139 34634139 T C UTR3 NOP10 NM_018648:c.*30A>G NA NA UTR3 ENSG00000182117 ENST00000328848:c.*30A>G,ENST00000557912:c.*56A>G NA NA NA NA 15q14 NA Name=BRF2 NA NA rs1045194 0.18 0.18 0.186 0.210064 0.169 0.3353 0.1974 0.1354 0.2331 0.14 0.3 0.15 0.11 0.1784 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206089 NA NA 0.151117 0.14289 ID=COSN164889;OCCURENCE=1(breast) 0.007 NA 4.8348164 1169 1 214656526 214656526 T C intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs80102871 NA NA NA 0.496605 0.499 0.4871 0.4957 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.775276 NA NA NA NA NA NA NA 4.8343333 1169 1 214656527 214656527 G A intronic PTPN14 NA NA NA ncRNA_exonic ENSG00000213036 NA NA NA Score=715;Name=lod=1073 NA 1q41 NA NA NA NA rs75133125 NA NA NA 0.496605 0.499 0.4871 0.4957 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04139 NA NA NA NA NA NA NA 4.8343333 1169 5 78596044 78596044 T C exonic JMY NA synonymous SNV JMY:NM_152405:exon5:c.T1596C:p.D532D exonic ENSG00000152409 NA synonymous SNV ENSG00000152409:ENST00000396137:exon5:c.T1596C:p.D532D Score=655;Name=lod=615 NA 5q14.1 NA NA NA NA rs10514159 0.68 0.68 0.712 0.679712 0.6163 0.6319 0.585 0.9372 0.5133 0.62 0.63 0.55 0.94 0.603 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.350754 1.350754 NA 0.61329 0.884615 NA 0.659 NA 4.8340766 1169 1 24671287 24671287 C T intronic GRHL3 NA NA NA intronic ENSG00000158055 NA NA NA NA NA 1p36.11 NA NA Name=8 NA rs4648859 0.25 0.25 0.26 0.282748 0.166 0.0337 0.2075 0.6604 0.2025 0.18 0.02 0.21 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164087 NA NA NA NA NA 0.275 NA 4.834 1169 5 23304111 23304111 C T intergenic CDH12,PRDM9 dist=450380;dist=203613 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=589;Name=lod=329 NA 5p14.2 NA NA NA NA rs16892375 0.14 0.14 0.113 0.210863 0.166 0.125 0.2161 0.1566 0.4151 0.13 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00019 NA NA NA NA NA 0.138 NA 4.834 1169 5 23304235 23304235 T C intergenic CDH12,PRDM9 dist=450504;dist=203489 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=589;Name=lod=329 NA 5p14.2 NA NA NA NA rs6874000 0.15 0.15 0.14 0.222045 0.166 0.125 0.2205 0.1967 0.4151 0.14 0.11 0.2 0.18 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526147 NA NA NA NA NA 0.145 NA 4.834 1169 5 23304261 23304261 G A intergenic CDH12,PRDM9 dist=450530;dist=203463 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=589;Name=lod=329 NA 5p14.2 NA NA NA NA rs6887969 0.14 0.14 0.124 0.210663 0.166 0.125 0.2161 0.1558 0.4151 0.13 0.11 0.2 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114546 NA NA NA NA NA 0.08 NA 4.834 1169 5 23304368 23304368 A C intergenic CDH12,PRDM9 dist=450637;dist=203356 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=663;Name=lod=658 NA 5p14.2 NA NA NA NA rs13152937 0.14 0.14 0.114 0.210663 0.166 0.125 0.2161 0.1558 0.4151 0.13 0.11 0.19 0.13 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636772 NA NA NA NA NA 0.138 NA 4.834 1169 5 23304401 23304401 G T intergenic CDH12,PRDM9 dist=450670;dist=203323 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=663;Name=lod=658 NA 5p14.2 NA NA NA NA rs6888168 0.14 0.14 0.122 0.210663 0.166 0.125 0.2161 0.1558 0.4151 0.14 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133413 NA NA NA NA NA 0.138 NA 4.834 1169 5 23304501 23304501 C T intergenic CDH12,PRDM9 dist=450770;dist=203223 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=663;Name=lod=658 NA 5p14.2 NA NA NA NA rs6889624 0.14 0.14 0.115 0.210863 0.166 0.125 0.2161 0.1558 0.4162 0.14 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017527 NA NA NA NA NA 0.138 NA 4.834 1169 5 23304559 23304559 C T intergenic CDH12,PRDM9 dist=450828;dist=203165 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=663;Name=lod=658 NA 5p14.2 NA NA NA NA rs6889753 0.14 0.14 0.114 0.211062 0.166 0.125 0.2176 0.1566 0.4151 0.14 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179785 NA NA NA NA NA 0.138 NA 4.834 1169 5 23304587 23304587 A C intergenic CDH12,PRDM9 dist=450856;dist=203137 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=608;Name=lod=394 NA 5p14.2 NA NA NA NA rs6870220 0.14 0.14 0.121 0.211062 0.166 0.125 0.2161 0.1566 0.4162 0.14 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.311878 NA NA NA NA NA 0.138 NA 4.834 1169 5 23304911 23304911 G A intergenic CDH12,PRDM9 dist=451180;dist=202813 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=721;Name=lod=1130 NA 5p14.2 NA NA NA NA rs16899396 0.14 0.14 0.122 0.210663 0.166 0.125 0.2161 0.1558 0.4151 0.14 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171897 NA NA NA NA NA 0.138 NA 4.834 1169 15 31214649 31214649 A G intronic FAN1 NA NA NA intronic ENSG00000198690 NA NA NA NA NA 15q13.3 NA Name=SP1 NA NA rs1474382 0.2 0.2 0.186 0.217652 0.166 0.1567 0.2622 0.2973 0.1943 0.15 0.12 0.25 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.533275 1.533275 NA NA NA NA 0.152 NA 4.834 1169 15 66857290 66857290 C T intronic LCTL NA NA NA intronic ENSG00000188501 NA NA NA NA NA 15q22.31 NA NA Name=6 NA rs7403574 0.2 0.2 0.2 0.189497 0.166 0.129 0.2565 0.2579 0.136 0.18 0.13 0.24 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363725 NA NA NA NA NA 0.268 NA 4.834 1169 20 29874301 29874301 T C intergenic DEFB115,DEFB116 dist=26866;dist=16714 NA NA ncRNA_exonic ENSG00000224628 NA NA NA Score=681;Name=lod=782 NA 20q11.21 NA NA NA NA rs55995696 0.09 0.09 0.081 0.0698882 0.166 NA 0.1052 0.0469 0.0491 0.18 NA 0.11 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643821 NA NA NA NA NA 0.123 NA 4.834 1169 1 144860026 144860026 G C intronic NBPF9,PDE4DIP NA NA NA ncRNA_intronic ENSG00000255148 NA NA NA NA NA 1q21.1 NA Name=CTCF,Rad21,CTCF_(C-20),CTCF_(SC-5916),SMC3_(ab9263),NANOG_(SC-33759) NA NA rs1699819 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533367 NA NA NA NA NA 0.5 NA 4.8334333 1169 4 86738 86738 A G exonic ZNF595 NA unknown UNKNOWN ncRNA_exonic ENSG00000255436 NA NA NA Score=369;Name=lod=42 NA 4p16.3 NA Name=ZNF274,SETDB1,KAP1 NA NA rs2353625 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530604 NA NA NA NA NA 1 NA 4.8334333 1169 14 106926714 106926714 C T intergenic LINC00226,LINC00221 dist=181748;dist=11741 NA NA UTR5 ENSG00000232216 ENST00000434710:c.-70G>A NA NA Score=243;Name=lod=13 NA 14q32.33 NA NA NA NA rs2467909 0.27 0.27 0.223 NA NA NA NA NA NA 0.27 0.17 0.22 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.806539 2.806539 NA NA NA NA 0.21 NA 4.8333334 1169 2 80801524 80801524 T C intronic CTNNA2 NA NA NA intronic ENSG00000066032 NA NA NA NA NA 2p12 NA NA Name=4 NA rs2276661 0.14 0.14 0.141 0.157947 0.167 0.1369 0.1383 0.1225 0.2321 0.16 0.13 0.14 0.12 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631207 NA NA NA NA NA 0.123 NA 4.833 1169 4 73673467 73673467 G C intergenic ADAMTS3,COX18 dist=238951;dist=246949 NA NA ncRNA_exonic ENSG00000270665 NA NA NA Score=581;Name=lod=307 NA 4q13.3 NA NA NA NA rs62313413 0.18 0.18 0.158 0.16254 0.167 0.2758 0.1556 0.0567 0.1892 0.18 0.29 0.21 0.04 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008663 NA NA NA NA NA 0.123 NA 4.833 1169 6 124604055 124604055 G T intronic NKAIN2 NA NA NA intronic ENSG00000188580 NA NA NA NA NA 6q22.31 Score=735;Name=V$MEF2_04 NA NA NA rs41284440 0.18 0.18 0.194 0.169728 0.167 0.1845 0.1225 0.2216 0.1207 0.15 0.2 0.13 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.677984 3.677984 NA NA NA NA 0.167 NA 4.833 1169 10 43191254 43191254 C G intergenic ZNF33B,BMS1 dist=57262;dist=86700 NA NA ncRNA_exonic ENSG00000231009 NA NA NA Score=403;Name=lod=58 NA 10q11.21 NA NA NA NA rs7088389 0.19 0.19 0.186 0.224641 0.167 0.0357 0.219 0.3956 0.2515 0.16 0.03 0.22 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166701 NA NA NA NA NA 0.167 NA 4.833 1169 14 95192825 95192825 T C intergenic SERPINA13P,GSC dist=79494;dist=41735 NA NA ncRNA_exonic ENSG00000239269 NA NA NA Score=800;Name=lod=2376 NA 14q32.13 NA NA NA NA rs17113898 0.12 0.12 0.102 0.144968 0.167 0.0536 0.0908 0.1732 0.2168 0.14 0.06 0.1 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042632 NA NA NA NA NA 0.174 NA 4.833 1169 17 51512293 51512293 G C intergenic C17orf112,KIF2B dist=447281;dist=387946 NA NA ncRNA_exonic ENSG00000262271 NA NA NA Score=673;Name=lod=726 NA 17q22 NA NA NA NA rs11653759 0.15 0.15 0.122 0.120407 0.167 0.1111 0.2219 0.0764 0.0695 0.16 0.15 0.24 0.07 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792322 NA NA NA NA NA 0.109 NA 4.833 1169 16 1260528 1260528 C T intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA Name=USF-1 NA NA rs111903030 0.02 0.02 0.025 0.0305511 0.0527 NA 0.0288 NA 0.0818 0.06 NA 0.03 NA 0.0528 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.617041 NA NA 0.062057 0.009845 NA NA NA 4.832443 1169 19 4153659 4153659 G A UTR5 CREB3L3 NM_001271995:c.-86G>A,NM_032607:c.-86G>A,NM_001271997:c.-86G>A,NM_001271996:c.-86G>A NA NA UTR5 ENSG00000060566 ENST00000078445:c.-86G>A,ENST00000252587:c.-1237G>A,ENST00000595923:c.-86G>A NA NA NA NA 19p13.3 NA Name=c-Fos,GATA-2,Pbx3,IRF1,HEY1,IRF3,SP1,Pol2,SP2_(SC-643),NF-YA,TAF1,NF-YB Name=100 NA rs350879 0.85 0.85 0.857 0.868211 0.7505 0.9196 0.8213 0.9758 0.8241 0.74 0.91 0.81 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391795 NA NA 0.750786 0.941474 NA 0.812 NA 4.8320474 1169 3 186980264 186980264 C T intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA NA NA 3q27.3 NA NA Name=4 NA rs710468 0.23 0.23 0.228 0.28095 0.168 0.1776 0.1888 0.5144 0.2536 0.17 0.15 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654052 NA NA NA NA NA 0.254 NA 4.832 1169 9 79164646 79164646 G A intergenic GCNT1,PRUNE2 dist=42314;dist=61646 NA NA ncRNA_exonic ENSG00000219149 NA NA NA Score=371;Name=lod=43 NA 9q21.13 NA NA NA NA rs13290974 0.21 0.21 0.195 0.225439 0.168 0.1637 0.3487 0.2708 0.1994 0.18 0.16 0.3 0.25 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110475 NA NA NA NA NA 0.232 NA 4.832 1169 16 84449024 84449024 G A intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA Name=STAT1 NA NA rs3743649 0.14 0.14 0.12 0.153355 0.168 0.0248 0.2075 0.1467 0.2413 0.17 0.03 0.22 0.17 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070641 NA NA NA NA NA 0.225 NA 4.832 1169 17 7804405 7804405 G C intronic CHD3 NA NA NA intronic ENSG00000170004 NA NA NA NA NA 17p13.1 Score=929;Name=V$PAX4_03 NA NA NA rs62062524 0.24 0.24 0.209 0.241014 0.168 0.4395 0.353 0.0772 0.2536 0.17 0.41 0.31 0.09 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590765 NA NA NA NA NA 0.123 NA 4.832 1169 19 16013416 16013416 T C intergenic CYP4F2,CYP4F11 dist=4532;dist=9764 NA NA ncRNA_exonic ENSG00000267218 NA NA NA Score=745;Name=lod=1424 NA 19p13.12 NA NA NA NA rs113262110 0.14 0.14 0.13 0.208666 0.168 0.1567 0.1571 0.2413 0.2965 0.15 0.12 0.14 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310633 NA NA NA NA NA 0.08 NA 4.832 1169 19 16013815 16013815 G A intergenic CYP4F2,CYP4F11 dist=4931;dist=9365 NA NA ncRNA_exonic ENSG00000267218 NA NA NA Score=745;Name=lod=1424 NA 19p13.12 NA NA NA NA rs8104015 0.17 0.17 0.157 0.204872 0.168 0.1567 0.1571 0.2269 0.2965 0.17 0.13 0.17 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568857 NA NA NA NA NA 0.087 NA 4.832 1169 14 94007075 94007075 C T exonic UNC79 NA synonymous SNV UNC79:NM_020818:exon13:c.C891T:p.G297G exonic ENSG00000133958 NA synonymous SNV ENSG00000133958:ENST00000256339:exon13:c.C891T:p.G297G,ENSG00000133958:ENST00000393151:exon13:c.C1422T:p.G474G,ENSG00000133958:ENST00000553484:exon13:c.C1422T:p.G474G,ENSG00000133958:ENST00000555664:exon13:c.C1422T:p.G474G Score=478;Name=lod=117 NA 14q32.12 NA NA NA NA rs1951716 0.5 0.5 0.473 0.485224 0.6193 0.2113 0.7147 0.4652 0.4939 0.61 0.21 0.73 0.51 0.5774 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.424846 1.424846 NA 0.638488 0.492056 NA 0.522 NA 4.8314786 1169 17 9066098 9066098 C T intronic NTN1 NA NA NA intronic ENSG00000065320 NA NA NA NA NA 17p13.1 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=9 NA rs2286510 0.35 0.35 0.329 0.332268 0.4056 0.3482 0.3703 0.2821 0.2812 0.41 0.32 0.36 0.27 0.371 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008701 NA NA 0.391952 0.305821 NA 0.312 NA 4.831448 1169 1 57004147 57004147 G A intronic PPAP2B NA NA NA ncRNA_exonic ENSG00000236776 NA NA NA Score=536;Name=lod=201 NA 1p32.2 NA NA NA NA rs1777274 0.44 0.44 0.439 0.487021 0.502 0.2669 0.4928 0.6097 0.5286 0.5 0.26 0.44 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629725 NA NA NA NA NA 0.5 NA 4.8313333 1169 1 57004178 57004178 G T intronic PPAP2B NA NA NA ncRNA_exonic ENSG00000236776 NA NA NA Score=536;Name=lod=201 NA 1p32.2 NA NA NA NA rs1759750 0.44 0.44 0.436 0.487021 0.502 0.2669 0.4928 0.6097 0.5286 0.5 0.26 0.44 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285693 NA NA NA NA NA 0.493 NA 4.8313333 1169 20 31760708 31760708 G A intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA NA Name=3 NA rs6579083 0.2 0.2 0.23 0.218251 0.0487 0.0556 0.0764 0.6982 0.0123 0.05 0.06 0.07 0.68 0.0845 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186957 NA NA 0.035581 0.573309 NA 0.196 NA 4.831219 1169 3 97660084 97660084 C T exonic CRYBG3 NA synonymous SNV CRYBG3:NM_153605:exon20:c.C8598T:p.C2866C exonic ENSG00000080200 NA synonymous SNV ENSG00000080200:ENST00000495403:exon4:c.C372T:p.C124C,ENSG00000080200:ENST00000389622:exon5:c.C375T:p.C125C,ENSG00000080200:ENST00000182096:exon17:c.C2754T:p.C918C NA NA 3q11.2 NA NA NA NA rs11544446 0.21 0.21 0.17 0.201278 0.2823 0.1528 0.3098 0.112 0.2117 0.29 0.13 0.33 0.11 0.2696 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449808 NA NA 0.283695 0.123936 NA 0.254 NA 4.8310716 1169 8 124027628 124027628 T C UTR3 DERL1 NM_024295:c.*59A>G,NM_001134671:c.*59A>G NA NA ncRNA_UTR3 ENSG00000136986 NA NA NA NA NA 8q24.13 NA Name=Pol2 NA NA rs7159 0.63 0.63 0.592 0.634185 0.669 0.7014 0.6542 0.497 0.7004 0.68 0.68 0.65 0.49 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68926 NA NA NA NA NA 0.681 NA 4.831 1169 14 31260686 31260686 A G intergenic SCFD1,COCH dist=55653;dist=83055 NA NA ncRNA_exonic ENSG00000243855 NA NA NA Score=694;Name=lod=878 NA 14q12 NA NA NA NA rs17438210 0.08 0.08 0.062 0.0609026 0.169 0.001 0.085 0.0083 0.0654 0.17 NA 0.1 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247427 NA NA NA NA NA 0.145 NA 4.831 1169 19 16013658 16013658 A G intergenic CYP4F2,CYP4F11 dist=4774;dist=9522 NA NA ncRNA_exonic ENSG00000267218 NA NA NA Score=745;Name=lod=1424 NA 19p13.12 NA NA NA NA rs16980921 0.18 0.18 0.145 0.209065 0.169 0.1567 0.1585 0.2413 0.2965 0.17 0.13 0.17 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003947 NA NA NA NA NA 0.094 NA 4.831 1169 20 29929497 29929497 C T intergenic DEFB116,DEFB118 dist=33109;dist=26924 NA NA ncRNA_exonic ENSG00000236121 NA NA NA NA NA 20q11.21 NA Name=TAL1_(SC-12984) NA NA rs17326630 0.09 0.09 0.067 0.0702875 0.169 NA 0.1081 0.0446 0.0491 0.18 NA 0.11 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.108367 NA NA NA NA NA 0.109 NA 4.831 1169 19 19653524 19653524 G A intronic CILP2 NA NA NA intronic ENSG00000160161 NA NA NA NA NA 19p13.11 NA NA Name=5 NA rs34067609 0.12 0.12 NA 0.11901 0.169 NA 0.1167 0.1634 0.1319 0.15 NA 0.14 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929572 NA NA NA NA NA NA NA 4.831 1169 19 10403947 10403947 T C intronic ICAM5 NA NA NA intronic ENSG00000105376 NA NA NA NA NA 19p13.2 NA Name=SUZ12 Name=5 NA rs2569702 0.3 0.3 0.263 0.303315 0.4095 0.247 0.5202 0.0439 0.4489 0.41 0.26 0.48 0.02 0.3831 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491165 1.491165 NA 0.376464 0.096463 NA 0.304 NA 4.830936 1169 3 184094183 184094183 A G UTR5 THPO NM_001177598:c.-136T>C,NM_001177597:c.-136T>C,NM_000460:c.-136T>C NA NA UTR5 ENSG00000090534 ENST00000204615:c.-136T>C,ENST00000445696:c.-136T>C NA NA Score=272;Name=lod=17 NA 3q27.1 NA NA NA NA rs956732 0.52 0.52 0.502 0.506789 0.503 0.3919 0.6354 0.6142 0.3926 0.48 0.44 0.61 0.59 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111521 NA NA NA NA NA 0.645 NA 4.8303334 1169 5 43495684 43495684 C T intronic C5orf34 NA NA NA ncRNA_exonic ENSG00000249855 NA NA NA Score=860;Name=lod=4171 NA 5p12 NA NA NA NA rs10066408 0.4 0.4 0.374 0.401757 0.503 0.0893 0.3818 0.6263 0.3303 0.48 0.09 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320265 NA NA NA NA NA 0.442 NA 4.8303333 1169 5 43495924 43495924 C A intronic C5orf34 NA NA NA ncRNA_exonic ENSG00000249855 NA NA NA Score=860;Name=lod=4171 NA 5p12 NA NA NA NA rs10068064 0.4 0.4 0.404 0.401957 0.503 0.0893 0.3818 0.6271 0.3303 0.48 0.09 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24766 NA NA NA NA NA 0.536 NA 4.8303333 1169 7 45139919 45139919 A C UTR3 TBRG4 NM_199122:c.*5T>G,NM_004749:c.*5T>G,NM_030900:c.*5T>G,NM_001261834:c.*5T>G NA NA UTR3 ENSG00000136270 ENST00000395655:c.*5T>G,ENST00000361278:c.*5T>G,ENST00000258770:c.*5T>G,ENST00000494076:c.*5T>G NA NA NA NA 7p13 NA Name=USF-1 NA NA rs2289373 0.12 0.12 0.121 0.115216 0.167 0.1538 0.1643 0.0174 0.1196 0.16 0.14 0.18 0.02 0.1519 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541579 NA NA 0.184419 0.041307 NA 0.087 NA 4.8300144 1169 1 152372035 152372035 A G intergenic FLG2,CRNN dist=39553;dist=9684 NA NA ncRNA_intronic ENSG00000227415 NA NA NA NA NA 1q21.3 NA Name=CTCF NA NA rs7515448 0.39 0.39 0.377 0.432508 0.17 0.496 0.451 0.6437 0.3384 0.17 0.5 0.38 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18211 NA NA NA NA NA 0.384 NA 4.83 1169 2 62030301 62030301 C T intergenic XPO1,FAM161A dist=264883;dist=21682 NA NA ncRNA_exonic ENSG00000227361 NA NA NA Score=717;Name=lod=1093 NA 2p15 NA NA NA NA rs12472964 0.15 0.15 0.146 0.147764 0.17 0.1558 0.1916 0.1006 0.1493 0.17 0.15 0.19 0.1 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14503 NA NA NA NA NA 0.138 NA 4.83 1169 4 73673271 73673271 A T intergenic ADAMTS3,COX18 dist=238755;dist=247145 NA NA ncRNA_exonic ENSG00000270665 NA NA NA Score=674;Name=lod=729 NA 4q13.3 NA NA NA NA rs62313412 0.21 0.21 0.192 0.195088 0.17 0.2768 0.1686 0.1702 0.1892 0.18 0.28 0.21 0.15 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215582 NA NA NA NA NA 0.159 NA 4.83 1169 4 188892065 188892065 C T intergenic LOC339975,ZFP42 dist=465298;dist=24860 NA NA ncRNA_exonic ENSG00000213331 NA NA NA Score=374;Name=lod=44 NA 4q35.2 NA NA NA NA rs60778059 0.26 0.26 0.224 0.301118 0.17 0.3919 0.2853 0.239 0.4376 0.17 0.42 0.26 0.22 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750525 NA NA NA NA NA 0.181 NA 4.83 1169 6 32546940 32546940 C T intronic HLA-DRB1 NA NA NA intronic ENSG00000196126 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs72847691 NA NA 0.085 0.0826677 0.17 0.0288 0.134 0.0666 0.0337 NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392844 NA NA NA NA NA 0.145 NA 4.83 1169 8 68318876 68318876 A G intergenic ARFGEF1,CPA6 dist=62964;dist=15529 NA NA ncRNA_exonic ENSG00000241961 NA NA NA Score=595;Name=lod=348 NA 8q13.2 NA NA NA NA rs7821886 0.12 0.12 0.11 0.134185 0.17 0.0258 0.1398 0.1694 0.1575 0.17 0.02 0.13 0.16 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170688 NA NA NA NA NA 0.138 NA 4.83 1169 11 117780744 117780744 C T intronic TMPRSS13 NA NA NA intronic ENSG00000137747 NA NA NA NA NA 11q23.3 NA Name=GATA-2,ZNF263,CCNT2,Pol2,eGFP-JunD,E2F6,CTCF NA NA rs12801855 0.09 0.09 0.074 0.0730831 0.17 0.005 0.0951 0.0151 0.1063 0.18 NA 0.15 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607112 NA NA NA NA NA 0.116 NA 4.83 1169 19 55668819 55668819 A G intronic TNNI3 NA NA NA intronic ENSG00000129991,ENSG00000267110 NA NA NA NA NA 19q13.42 NA Name=PU.1 NA NA rs11667847 0.22 0.22 0.208 0.247204 0.17 0.2321 0.1311 0.3525 0.2822 0.17 0.22 0.14 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102038 NA NA NA NA NA 0.217 NA 4.83 1169 19 49519466 49519466 A G exonic LHB NA synonymous SNV LHB:NM_000894:exon3:c.T285C:p.G95G exonic ENSG00000104826 NA synonymous SNV ENSG00000104826:ENST00000221421:exon3:c.T285C:p.G95G NA NA 19q13.33 NA Name=Pol2 NA NA rs1056917 0.58 0.58 0.571 0.587061 0.6262 0.3383 0.6484 0.739 0.5542 0.63 0.34 0.62 0.73 0.6048 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724494 NA NA 0.60593 0.721516 NA 0.688 NA 4.8297366 1169 6 32548501 32548501 C T intronic HLA-DRB1 NA NA NA intronic ENSG00000196126 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs3830131 NA NA 0.054 NA NA NA NA NA NA NA NA NA NA 0.1705 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240792 NA NA NA NA NA 0.072 NA 4.8295 1169 11 5536415 5536415 C T exonic UBQLNL NA synonymous SNV UBQLNL:NM_145053:exon1:c.G1257A:p.E419E exonic ENSG00000175518 NA synonymous SNV ENSG00000175518:ENST00000380184:exon1:c.G1257A:p.E419E NA NA 11p15.4 NA NA NA NA rs10769023 0.31 0.31 0.287 0.288538 0.2614 0.371 0.3184 0.2458 0.2679 0.28 0.41 0.28 0.28 0.3031 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.211323 NA NA 0.272865 0.253067 NA 0.283 NA 4.8293016 1169 11 125938163 125938163 C T intergenic CDON,RPUSD4 dist=4976;dist=133826 NA NA ncRNA_exonic ENSG00000254759 NA NA NA Score=594;Name=lod=347 NA 11q24.2 NA NA NA NA rs535955 0.08 0.08 0.069 0.0830671 0.171 0.004 0.1441 0.0129 0.1258 0.16 0.01 0.15 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831807 NA NA NA NA NA 0.058 NA 4.829 1169 13 35630064 35630064 A G intronic NBEA NA NA NA intronic ENSG00000172915 NA NA NA NA NA 13q13.3 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs9530108 0.08 0.08 0.073 0.0654952 0.171 0.001 0.0965 0.0106 0.0757 0.17 0.01 0.11 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391294 NA NA NA NA NA 0.087 NA 4.829 1169 15 31090456 31090456 G A intergenic LOC100288637,HERC2P10 dist=25247;dist=19783 NA NA ncRNA_exonic ENSG00000103832 NA NA NA Score=383;Name=lod=48 NA 15q13.2 NA NA NA NA rs12902714 0.13 0.13 0.128 0.145767 0.171 0.0188 0.1009 0.2277 0.1718 0.17 0.02 0.11 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049625 NA NA NA NA NA 0.08 NA 4.829 1169 15 59694003 59694003 C T intergenic MYO1E,FAM81A dist=28932;dist=36369 NA NA ncRNA_exonic ENSG00000259750 NA NA NA Score=783;Name=lod=2020 NA 15q22.2 NA NA NA NA rs58617007 0.2 0.2 0.169 0.220647 0.171 0.3879 0.2075 0.1082 0.2607 0.18 0.32 0.19 0.09 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.063861 2.063861 NA NA NA NA 0.159 NA 4.829 1169 15 79310337 79310337 A G intronic RASGRF1 NA NA NA intronic ENSG00000058335 NA NA NA NA NA 15q25.1 NA Name=NFKB NA NA rs11855004 0.17 0.17 0.173 0.167532 0.171 0.1696 0.1167 0.2443 0.0941 0.17 0.16 0.13 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19737 NA NA NA NA NA 0.138 NA 4.829 1169 19 51262056 51262056 T C intergenic CLEC11A,GPR32 dist=33075;dist=11665 NA NA ncRNA_exonic ENSG00000269565 NA NA NA Score=528;Name=lod=186 NA 19q13.33 NA NA NA NA rs11883166 0.17 0.17 0.154 0.183307 0.171 0.005 0.1542 0.3646 0.1554 0.16 NA 0.18 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485717 NA NA NA NA NA 0.261 NA 4.829 1169 6 29913266 29913266 G T UTR3 HLA-A NM_001242758:c.*34G>T,NM_002116:c.*34G>T NA NA UTR3 ENSG00000206503 ENST00000396634:c.*34G>T,ENST00000376806:c.*34G>T,ENST00000376809:c.*34G>T,ENST00000376802:c.*34G>T NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs1061156 0.19 0.19 0.213 0.203275 0.16 0.1756 0.1671 0.2731 0.2076 0.15 0.19 0.19 0.27 0.1772 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137752 NA NA 0.16722 0.250827 NA 0.087 NA 4.8289134 1169 6 30890195 30890195 A G intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA Name=15 NA rs3890906 0.05 0.05 0.041 0.034345 0.0577 0.003 0.0375 0.056 0.0112 0.06 0.01 0.04 0.08 0.0522 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816533 NA NA 0.061669 0.04937 NA 0.007 NA 4.828431 1169 4 166325868 166325868 A G intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA Score=665;Name=lod=673 NA 4q32.3 NA NA NA NA rs2241812 0.55 0.55 0.559 0.582268 0.505 0.6438 0.4337 0.7534 0.4724 0.48 0.56 0.43 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.268398 2.268398 NA NA NA NA 0.58 NA 4.8283333 1169 5 22580680 22580680 T C intronic CDH12 NA NA NA ncRNA_exonic ENSG00000249206 NA NA NA Score=503;Name=lod=147 NA 5p14.3 NA NA NA NA rs2652199 0.59 0.59 0.565 0.599641 0.505 0.7083 0.7248 0.5847 0.5164 0.5 0.71 0.68 0.54 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658206 NA NA NA NA NA 0.529 NA 4.8283333 1169 10 102008169 102008169 C G intronic CWF19L1 NA NA NA ncRNA_exonic ENSG00000230224 NA NA NA Score=783;Name=lod=2026 NA 10q24.31 NA NA NA NA rs7079072 0.45 0.45 0.464 0.435104 0.505 0.2083 0.402 0.674 0.2975 0.51 0.22 0.46 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446275 NA NA NA NA NA 0.428 NA 4.8283333 1169 16 84211483 84211483 C T UTR3 DNAAF1,TAF1C NM_178452:c.*36C>T;NM_001243159:c.*1064G>A,NM_001243158:c.*1064G>A,NM_005679:c.*1064G>A,NM_001243157:c.*1064G>A,NM_001243156:c.*1064G>A,NM_139353:c.*1064G>A,NM_001243160:c.*1064G>A NA NA UTR3 ENSG00000103168,ENSG00000154099 ENST00000341690:c.*1064G>A,ENST00000567759:c.*1064G>A,ENST00000541676:c.*1064G>A,ENST00000378541:c.*1064G>A,ENST00000566903:c.*1845G>A;ENST00000378553:c.*36C>T,ENST00000569735:c.*36C>T NA NA NA NA 16q24.1 NA Name=c-Fos,Egr-1,c-Myc Name=85 NA rs8692 0.5 0.5 0.523 0.501797 0.495 0.5278 0.5086 0.4705 0.5194 0.49 0.55 0.47 0.46 0.5106 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830963 NA NA 0.499419 0.475455 ID=COSN165275;OCCURENCE=1(breast) 0.435 NA 4.8283144 1169 3 38539098 38539098 T C intronic EXOG NA NA NA intronic ENSG00000157036 NA NA NA NA NA 3p22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1719 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446328 NA NA NA NA NA NA NA 4.8281 1169 15 31093529 31093529 C T intergenic LOC100288637,HERC2P10 dist=28320;dist=16710 NA NA ncRNA_exonic ENSG00000221379 NA NA NA NA NA 15q13.2 NA Name=CTCF,Rad21,CTCF_(C-20),CTCF_(SC-5916) NA NA rs35480234 0.19 0.19 0.14 0.217652 0.172 0.0288 0.1196 0.4788 0.1759 0.17 0.04 0.13 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462648 NA NA NA NA NA NA NA 4.828 1169 7 100552094 100552094 G C intergenic ACHE,MUC12 dist=58553;dist=60810 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.G845C:p.G282A NA NA 7q22.1 NA NA NA NA rs62483698 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5067 0.55 1 T 0.0 B 0.0 B . . 0.723 P 0 N 3.46 T -0.952 T 0.000 T 0.026 -1.985 0.007 1.5 0.186 -0.133 7.630 -1.985211 NA 1 0.498744 0.554224 NA 0.478 NA 4.8278894 1169 11 64972354 64972354 A T intronic CAPN1 NA NA NA intronic ENSG00000014216 NA NA NA NA NA 11q13.1 NA Name=ZNF263,CTCF_(SC-5916),NANOG_(SC-33759),Egr-1,CTCF_(C-20),CTCFL_(SC-98982),Znf143_(16618-1-AP),SMC3_(ab9263),Rad21,CTCF Name=83 NA rs2271450 0.38 0.38 0.337 0.347444 0.4076 0.4365 0.4784 0.1838 0.3221 0.42 0.43 0.42 0.22 0.3846 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49316 NA NA 0.380514 0.209529 NA 0.42 NA 4.827286 1169 2 136655620 136655620 G A intergenic MCM6,DARS dist=21573;dist=8634 NA NA ncRNA_exonic ENSG00000214070 NA NA NA Score=696;Name=lod=897 NA 2q21.3 NA NA NA NA rs6430593 0.22 0.22 0.22 0.265775 0.173 0.1825 0.3573 0.2632 0.3855 0.16 0.2 0.3 0.26 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340481 NA NA NA NA NA 0.196 NA 4.827 1169 3 96338561 96338561 G A intergenic LOC100287639,EPHA6 dist=936524;dist=194864 NA NA ncRNA_exonic ENSG00000218754 NA NA NA Score=752;Name=lod=1520 NA 3q11.2 NA NA NA NA rs9845161 0.1 0.1 0.07 0.0826677 0.173 0.001 0.0908 0.0749 0.0787 0.19 NA 0.1 0.07 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040374 NA NA NA NA NA 0.043 NA 4.827 1169 6 31334265 31334265 T C intergenic HLA-B,MICA dist=9276;dist=37106 NA NA ncRNA_exonic ENSG00000228432 NA NA NA Score=584;Name=lod=316 NA 6p21.33 NA NA NA NA rs3873393 0.2 0.2 0.18 0.234625 0.173 0.1617 0.3444 0.3343 0.1605 0.16 0.14 0.35 0.25 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322573 NA NA NA NA NA NA NA 4.827 1169 13 24902861 24902861 G A intergenic C1QTNF9,PARP4 dist=6192;dist=92208 NA NA ncRNA_exonic ENSG00000234627 NA NA NA Score=676;Name=lod=746 NA 13q12.12 NA NA NA NA rs56272062 0.1 0.1 0.095 0.0822684 0.173 NA 0.1066 0.0983 0.0348 0.17 NA 0.11 0.09 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.375249 2.375249 NA NA NA NA 0.072 NA 4.827 1169 15 96932216 96932216 G A intergenic NR2F2,SPATA8 dist=48724;dist=394463 NA NA ncRNA_exonic ENSG00000259614 NA NA NA Score=821;Name=lod=2885 NA 15q26.2 NA NA NA NA rs2008780 0.29 0.29 0.284 0.285743 0.173 0.2788 0.245 0.4448 0.2229 0.17 0.3 0.29 0.45 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054233 NA NA NA NA NA 0.355 NA 4.827 1169 17 9142846 9142846 G C intronic NTN1 NA NA NA intronic ENSG00000065320 NA NA NA NA NA 17p13.1 NA Name=Egr-1 NA NA rs56235417 0.15 0.15 0.159 0.145367 0.173 0.1667 0.1095 0.1566 0.1053 0.17 0.19 0.1 0.12 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032243 NA NA NA NA NA 0.109 NA 4.827 1169 17 20332950 20332950 G A intergenic CCDC144CP,LGALS9B dist=27446;dist=20226 NA NA ncRNA_exonic ENSG00000189423 NA NA NA Score=616;Name=lod=427 NA 17p11.2 NA NA NA NA rs28374412 0.17 0.17 0.164 0.25639 0.173 0.0982 0.1931 0.5446 0.1605 0.13 0.06 0.12 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651897 NA NA NA NA NA 0.029 NA 4.827 1169 17 79805003 79805003 A G intronic P4HB NA NA NA intronic ENSG00000185624 NA NA NA NA NA 17q25.3 NA NA Name=9 NA rs111301737 0.27 0.27 0.279 0.238419 0.173 0.2877 0.3141 0.3086 0.1063 0.18 0.35 0.28 0.31 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357942 NA NA NA NA NA 0.246 NA 4.827 1169 19 20349185 20349185 G A intergenic ZNF486,MIR1270-1 dist=37886;dist=160896 NA NA ncRNA_exonic ENSG00000267383 NA NA NA NA NA 19p12 NA Name=TAF1,TAF7_(SQ-8),SP1,Pol2,c-Fos,Pol2-4H8 NA NA rs11667100 0.29 0.29 0.272 0.293131 0.173 0.4583 0.3228 0.2458 0.2894 0.17 0.49 0.28 0.23 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157116 NA NA NA NA NA 0.261 NA 4.827 1169 2 85489280 85489280 A G intronic TCF7L1 NA NA NA ncRNA_exonic ENSG00000230299 NA NA NA Score=385;Name=lod=49 NA 2p11.2 NA NA NA NA rs1991738 0.38 0.38 0.38 0.348642 0.507 0.2907 0.3429 0.3026 0.3119 0.5 0.29 0.38 0.32 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675093 NA NA NA NA NA 0.377 NA 4.8263333 1169 20 19634747 19634747 T C exonic SLC24A3 NA synonymous SNV SLC24A3:NM_020689:exon7:c.T654C:p.I218I exonic ENSG00000185052 NA synonymous SNV ENSG00000185052:ENST00000328041:exon7:c.T654C:p.I218I Score=409;Name=lod=61 NA 20p11.23 NA NA NA NA rs3790279 0.56 0.56 0.531 0.54992 0.6332 0.2669 0.572 0.7458 0.4755 0.64 0.28 0.59 0.73 0.5824 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052411 NA NA 0.624767 0.725601 NA 0.5 NA 4.8262996 1169 15 81591639 81591639 G A intronic IL16 NA NA NA intronic ENSG00000172349 NA NA NA NA NA 15q25.1 NA NA Name=2 NA rs4778636 0.16 0.16 0.16 0.154952 0.0746 0.1647 0.1671 0.2693 0.0644 0.07 0.19 0.15 0.26 0.0992 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846112 NA NA NA NA NA 0.181 NA 4.8262 1169 13 61109375 61109375 A C intronic TDRD3 NA NA NA intronic ENSG00000083544 NA NA NA Score=519;Name=lod=171 NA 13q21.2 NA NA NA NA rs41293436 0.05 0.05 0.044 0.0435304 0.0666 0.0476 0.0346 0.0295 0.0409 0.07 0.05 0.02 0.03 0.0484 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.463081 2.463081 NA 0.058953 0.047208 NA 0.051 NA 4.826047 1169 4 139402774 139402774 T C intergenic LINC00499,CCRN4L dist=57276;dist=534169 NA NA ncRNA_exonic ENSG00000248305 NA NA NA Score=712;Name=lod=1048 NA 4q28.3 NA NA NA NA rs17050441 0.14 0.14 0.136 0.123802 0.174 0.001 0.1354 0.2345 0.0409 0.17 NA 0.15 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.773479 1.773479 NA NA NA NA 0.203 NA 4.826 1169 5 79628207 79628207 T A intergenic SPZ1,CRSP8P dist=10547;dist=18217 NA NA ncRNA_exonic ENSG00000227087 NA NA NA Score=581;Name=lod=305 NA 5q14.1 NA NA NA NA rs12523297 0.18 0.18 0.18 0.173123 0.174 0.373 0.111 0.0106 0.2301 0.18 0.38 0.11 0.01 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.705103 2.705103 0 NA NA NA 0.174 NA 4.826 1169 10 61413353 61413353 A G intronic SLC16A9 NA NA NA intronic ENSG00000165449 NA NA NA NA Name=Uric acid levels 10q21.2 NA NA NA NA rs12356193 0.1 0.1 0.099 0.0864617 0.174 0.001 0.0893 0.0628 0.1145 0.18 0.0017 0.1 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8046 NA NA NA NA NA 0.167 NA 4.826 1169 17 34077428 34077428 A C intronic GAS2L2 NA NA NA intronic ENSG00000132139 NA NA NA NA NA 17q12 NA NA Name=42 NA rs11650416 0.2 0.2 0.164 0.18131 0.174 0.2778 0.2133 0.1286 0.138 0.19 0.27 0.22 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657465 NA NA NA NA NA 0.217 NA 4.826 1169 1 233512313 233512313 C T intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA Name=6 NA rs1294248 0.08 0.08 0.076 0.0874601 0.0537 0.004 0.0749 0.2322 0.0215 0.04 0.01 0.08 0.21 0.0604 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413932 NA NA 0.060349 0.214934 NA 0.159 NA 4.825551 1169 6 29913179 29913179 C T intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs2975056 0.19 0.19 0.168 NA NA NA NA NA NA 0.15 0.17 0.19 0.26 0.1749 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681193 NA NA NA NA NA 0.109 NA 4.8251 1169 2 89512775 89512775 T G intergenic MIR4436A,NONE dist=400807;dist=NONE NA NA downstream ENSG00000244575 NA NA NA NA NA 2p11.2 NA Name=CTCF Name=44 NA rs2848233 0.47 0.47 0.386 0.444489 0.675 0.4663 0.5014 0.0787 0.6391 0.69 0.44 0.55 0.12 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222652 NA NA NA NA NA 0.188 NA 4.825 1169 17 68237670 68237670 T C intergenic KCNJ2,SOX9 dist=61487;dist=1879491 NA NA ncRNA_exonic ENSG00000267170 NA NA NA Score=813;Name=lod=2682 NA 17q24.3 NA NA NA NA rs10512538 0.1 0.1 0.084 0.0888578 0.175 0.0298 0.0764 0.0779 0.0849 0.18 0.03 0.09 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083906 NA NA NA NA NA 0.08 NA 4.825 1170 8 98943545 98943545 A G exonic MATN2 NA synonymous SNV MATN2:NM_002380:exon3:c.A507G:p.T169T,MATN2:NM_030583:exon3:c.A507G:p.T169T exonic ENSG00000132561 NA synonymous SNV ENSG00000132561:ENST00000520016:exon2:c.A507G:p.T169T,ENSG00000132561:ENST00000254898:exon3:c.A507G:p.T169T,ENSG00000132561:ENST00000521689:exon3:c.A507G:p.T169T,ENSG00000132561:ENST00000524308:exon3:c.A507G:p.T169T NA NA 8q22.1 NA NA NA NA rs2290471 0.29 0.29 0.299 0.277556 0.2883 0.0804 0.2565 0.5023 0.181 0.29 0.08 0.28 0.53 0.2698 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667953 NA NA 0.283876 0.433286 NA 0.319 NA 4.8246906 1170 15 34634124 34634124 C G UTR3 NOP10 NM_018648:c.*45G>C NA NA UTR3 ENSG00000182117 ENST00000328848:c.*45G>C,ENST00000557912:c.*71G>C NA NA NA NA 15q14 NA Name=BRF2 NA NA rs1045238 0.22 0.22 0.19 0.210064 0.169 0.3353 0.1974 0.1354 0.2331 0.18 0.35 0.18 0.15 0.1782 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.290785 2.290785 NA 0.16147 0.150841 ID=COSN164887;OCCURENCE=1(NS) 0.13 NA 4.8246634 1170 20 19634732 19634732 G A exonic SLC24A3 NA synonymous SNV SLC24A3:NM_020689:exon7:c.G639A:p.L213L exonic ENSG00000185052 NA synonymous SNV ENSG00000185052:ENST00000328041:exon7:c.G639A:p.L213L Score=459;Name=lod=98 NA 20p11.23 NA NA NA NA rs3790278 0.56 0.56 0.539 0.556709 0.6332 0.2669 0.572 0.7716 0.4755 0.64 0.28 0.59 0.75 0.5844 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929685 NA NA 0.624651 0.74739 NA 0.507 NA 4.8244156 1170 7 100411278 100411278 T C exonic EPHB4 NA synonymous SNV EPHB4:NM_004444:exon10:c.A1752G:p.G584G exonic ENSG00000196411 NA synonymous SNV ENSG00000196411:ENST00000358173:exon10:c.A1752G:p.G584G,ENSG00000196411:ENST00000360620:exon10:c.A1752G:p.G584G Score=459;Name=lod=98 NA 7q22.1 NA NA NA NA rs314359 0.59 0.59 0.593 0.575679 0.6282 0.6329 0.67 0.4561 0.5573 0.62 0.61 0.61 0.5 0.608 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131187 NA NA 0.606163 0.487744 NA 0.659 NA 4.8243036 1170 X 151899913 151899913 T C exonic MAGEA12 NA synonymous SNV MAGEA12:NM_005367:exon2:c.A888G:p.G296G,MAGEA12:NM_001166386:exon3:c.A888G:p.G296G,MAGEA12:NM_001166387:exon3:c.A888G:p.G296G exonic ENSG00000213401 NA synonymous SNV ENSG00000213401:ENST00000357916:exon2:c.A888G:p.G296G,ENSG00000213401:ENST00000393869:exon3:c.A888G:p.G296G,ENSG00000213401:ENST00000393900:exon3:c.A888G:p.G296G NA NA Xq28 NA NA NA NA rs2233055 0.42 0.42 0.4372 NA NA NA NA NA NA 0.44 0.68 0.22 0.24 0.4268 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634374 NA NA 0.415577 0.266754 NA 0.312 NA 4.8242896 1170 16 20610962 20610962 C G intergenic ACSM2B,ACSM1 dist=23267;dist=23597 NA NA ncRNA_exonic ENSG00000260762 NA NA NA Score=502;Name=lod=146 NA 16p12.3 NA NA NA NA rs7498509 0.32 0.32 0.297 0.394968 0.1759 0.3482 0.2017 0.6634 0.4427 0.19 0.33 0.21 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833893 NA NA NA NA NA 0.399 NA 4.8241 1170 16 20615675 20615675 T C intergenic ACSM2B,ACSM1 dist=27980;dist=18884 NA NA ncRNA_exonic ENSG00000260762 NA NA NA Score=329;Name=lod=29 NA 16p12.3 NA NA NA NA rs9931725 0.33 0.33 0.311 0.395567 0.1759 0.3502 0.2017 0.6634 0.4438 0.19 0.34 0.21 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544512 NA NA NA NA NA 0.391 NA 4.8241 1170 16 20615752 20615752 T C intergenic ACSM2B,ACSM1 dist=28057;dist=18807 NA NA ncRNA_exonic ENSG00000260762 NA NA NA Score=346;Name=lod=34 NA 16p12.3 NA NA NA NA rs9931747 0.33 0.33 0.317 0.384984 0.1759 0.3492 0.2017 0.6634 0.3906 0.19 0.34 0.21 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082463 NA NA NA NA NA 0.399 NA 4.8241 1170 10 27459670 27459670 C T exonic MASTL NA synonymous SNV MASTL:NM_001172303:exon8:c.C1782T:p.I594I,MASTL:NM_001172304:exon8:c.C1782T:p.I594I,MASTL:NM_032844:exon8:c.C1782T:p.I594I exonic ENSG00000120539 NA synonymous SNV ENSG00000120539:ENST00000342386:exon8:c.C1782T:p.I594I,ENSG00000120539:ENST00000375940:exon8:c.C1782T:p.I594I,ENSG00000120539:ENST00000375946:exon8:c.C1782T:p.I594I Score=480;Name=lod=119 NA 10p12.1 NA NA NA NA rs1981296 0.51 0.51 0.503 0.504593 0.6024 0.4375 0.5231 0.5234 0.4346 0.59 0.38 0.55 0.51 0.5911 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001495 NA NA 0.649651 0.551067 NA 0.514 NA 4.8235156 1170 3 183663506 183663506 T C intronic ABCC5 NA NA NA intronic ENSG00000114770 NA NA NA NA NA 3q27.1 NA NA Name=3 NA rs4148589 0.25 0.25 0.231 0.249201 0.1769 0.4385 0.2709 0.1936 0.1881 0.18 0.42 0.2 0.21 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300245 NA NA NA NA NA 0.174 NA 4.8231 1170 6 38976849 38976849 G A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA Name=6 NA rs28360624 0.11 0.11 0.092 0.107228 0.1769 0.002 0.1239 0.121 0.1135 0.17 0.0035 0.14 0.12 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088568 NA NA NA NA NA 0.109 NA 4.8231 1170 15 85438397 85438397 A C intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA Name=AP-2alpha,c-Myc,AP-2gamma Name=7 NA rs8187753 0.42 0.42 0.362 0.451677 0.3698 0.6815 0.4524 0.1861 0.6575 0.38 0.66 0.43 0.2 0.449 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289075 NA NA 0.35816 0.20356 NA 0.319 NA 4.82304 1170 1 235747154 235747154 A G intronic GNG4 NA NA NA intronic ENSG00000168243 NA NA NA NA NA 1q42.3 NA Name=CTCF Name=24 NA rs2774336 0.49 0.49 0.46 0.494808 0.3767 0.7996 0.5231 0.3722 0.4479 0.39 0.76 0.45 0.34 0.4419 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85447 NA NA 0.358953 0.375624 NA 0.42 NA 4.822447 1170 17 16246016 16246016 A C UTR3 CENPV NM_181716:c.*115T>G NA NA UTR3 ENSG00000166582 ENST00000299736:c.*115T>G,ENST00000476243:c.*115T>G NA NA NA Name=Amyotrophic lateral sclerosis 17p11.2 NA NA NA NA rs7477 0.28 0.28 0.237 0.229633 0.5109 0.004 0.3703 0.1059 0.2403 0.51 0.01 0.43 0.13 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513503 NA NA NA NA NA 0.261 NA 4.8224334 1170 1 171652759 171652759 A G intergenic MYOC,VAMP4 dist=30986;dist=16537 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA NA NA NA rs11811780 0.16 0.16 0.161 0.172524 0.1779 0.12 0.134 0.2413 0.1554 0.17 0.12 0.14 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685069 NA NA NA NA NA 0.196 NA 4.8221 1170 13 31127894 31127894 C T intergenic HMGB1,USPL1 dist=87813;dist=63936 NA NA ncRNA_exonic ENSG00000224117 NA NA NA Score=631;Name=lod=487 NA 13q12.3 NA NA NA NA rs11618264 0.21 0.21 0.188 0.201278 0.1779 0.251 0.2349 0.143 0.229 0.2 0.25 0.25 0.14 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949178 NA NA NA NA ID=COSN164455;OCCURENCE=1(NS) 0.203 NA 4.8221 1170 9 139100805 139100805 T C exonic QSOX2 NA synonymous SNV QSOX2:NM_181701:exon12:c.A1866G:p.P622P exonic ENSG00000165661 NA synonymous SNV ENSG00000165661:ENST00000358701:exon12:c.A1866G:p.P622P NA NA 9q34.3 NA NA NA NA rs9696116 0.17 0.17 0.148 0.160343 0.2932 0.12 0.2147 0.0227 0.2127 0.29 0.12 0.21 0.03 0.2524 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376559 NA NA 0.299302 0.082842 NA 0.13 NA 4.8217646 1170 7 100391581 100391581 T C exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA synonymous SNV ENSG00000146839:ENST00000542585:exon43:c.T7989C:p.S2663S Score=333;Name=lod=30 NA 7q22.1 NA NA NA NA rs314339 0.37 0.37 0.393 0.344848 0.5427 0.0655 0.3213 0.4297 0.3313 0.54 0.06 0.34 0.49 0.4451 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724074 NA NA 0.52424 0.45109 NA 0.478 NA 4.8212933 1170 6 32713854 32713854 G A intronic HLA-DQA2 NA NA NA intronic ENSG00000237541 NA NA NA Score=346;Name=lod=34 NA 6p21.32 NA NA NA NA rs4398729 0.04 0.04 0.03 0.0429313 0.0606 0.0377 0.0375 0.0121 0.0757 0.06 0.03 0.04 0.01 0.0538 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932061 NA NA 0.064415 0.017538 NA 0.022 NA 4.821185 1170 1 171652664 171652664 G A intergenic MYOC,VAMP4 dist=30891;dist=16632 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA NA NA NA rs9661596 0.16 0.16 0.172 0.177915 0.1789 0.12 0.1383 0.2587 0.1554 0.17 0.12 0.14 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20842 NA NA NA NA NA 0.203 NA 4.8211 1170 1 171652731 171652731 A G intergenic MYOC,VAMP4 dist=30958;dist=16565 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA NA NA NA rs9662853 0.16 0.16 0.177 0.178714 0.1789 0.12 0.1383 0.2617 0.1554 0.17 0.12 0.14 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409847 NA NA NA NA NA 0.203 NA 4.8211 1170 1 171652978 171652978 T C intergenic MYOC,VAMP4 dist=31205;dist=16318 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA NA NA NA rs11799420 0.16 0.16 0.16 0.177915 0.1789 0.12 0.1383 0.2587 0.1554 0.17 0.12 0.14 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66828 NA NA NA NA NA 0.203 NA 4.8211 1170 1 171653384 171653384 T C intergenic MYOC,VAMP4 dist=31611;dist=15912 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA NA NA NA rs10913489 0.16 0.16 0.152 0.177915 0.1789 0.12 0.1383 0.2587 0.1554 0.17 0.12 0.14 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011969 NA NA NA NA NA 0.203 NA 4.8211 1170 1 171653401 171653401 G T intergenic MYOC,VAMP4 dist=31628;dist=15895 NA NA ncRNA_exonic ENSG00000230364 NA NA NA Score=822;Name=lod=2915 NA 1q24.3 NA NA NA NA rs10913490 0.16 0.16 0.156 0.177915 0.1789 0.12 0.1383 0.2587 0.1554 0.17 0.12 0.14 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.181739 2.181739 NA NA NA NA 0.203 NA 4.8211 1170 3 75591365 75591365 C T intergenic FAM86DP,MIR1324 dist=107099;dist=88549 NA NA ncRNA_exonic ENSG00000244674 NA NA NA Score=793;Name=lod=2224 NA 3p12.3 NA NA NA NA rs62262160 0.1 0.1 0.063 0.103834 0.1789 0.0367 0.1758 0.0121 0.1687 0.18 0.03 0.15 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172278 NA NA NA NA NA 0.029 NA 4.8211 1170 3 195723802 195723802 T C intergenic SDHAP1,TFRC dist=6652;dist=52353 NA NA ncRNA_exonic ENSG00000231464 NA NA NA Score=738;Name=lod=1327 NA 3q29 NA NA NA NA rs2593988 NA NA 0.379 0.395567 0.1789 0.7321 0.415 0.3797 0.2791 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010176 NA NA NA NA NA 0.014 NA 4.8211 1170 5 64483759 64483759 T C intronic ADAMTS6 NA NA NA intronic ENSG00000049192 NA NA NA Score=376;Name=lod=45 NA 5q12.3 NA NA NA NA rs16893475 0.17 0.17 0.19 0.177316 0.1789 0.1091 0.1643 0.2693 0.1309 0.16 0.09 0.19 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251046 NA NA NA NA NA 0.268 NA 4.8211 1170 6 32427946 32427946 A C intergenic HLA-DRA,HLA-DRB5 dist=15120;dist=57208 NA NA ncRNA_intronic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=HA-E2F1 NA NA rs17209126 0.12 0.12 0.104 0.121006 0.1789 0.0526 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814275 NA NA NA NA NA 0.13 NA 4.8211 1170 11 118221137 118221137 C T intronic CD3G NA NA NA intronic ENSG00000160654 NA NA NA NA NA 11q23.3 NA Name=CEBPB NA NA rs3753060 0.26 0.26 0.256 0.297125 0.1789 0.5119 0.1095 0.1611 0.5143 0.19 0.53 0.14 0.14 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.71102 1.71102 NA NA NA NA 0.203 NA 4.8211 1170 19 22790859 22790859 A G intergenic LOC440518,ZNF492 dist=4507;dist=26267 NA NA ncRNA_exonic ENSG00000269025 NA NA NA Score=422;Name=lod=69 NA 19p12 NA NA NA NA rs2306964 0.34 0.34 0.334 0.36861 0.1789 0.3264 0.3804 0.6029 0.2822 0.18 0.31 0.35 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.381948 NA NA NA NA NA 0.413 NA 4.8211 1170 3 132394784 132394784 A T ncRNA_intronic NPHP3-ACAD11 NA NA NA intronic ENSG00000081307,ENSG00000113971 NA NA NA Score=259;Name=lod=15 NA 3q22.1 NA NA NA NA rs12635575 0.33 0.33 0.347 0.327875 0.162 0.5714 0.1081 0.4667 0.2157 0.16 0.58 0.11 0.45 0.2187 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.384512 1.384512 NA 0.132106 0.409339 NA 0.348 NA 4.8205273 1170 1 235747005 235747005 C T intronic GNG4 NA NA NA intronic ENSG00000168243 NA NA NA NA NA 1q42.3 NA Name=CTCF Name=24 NA rs2774335 0.49 0.49 0.47 0.499401 0.3757 0.7996 0.5231 0.3903 0.4479 0.39 0.76 0.45 0.35 0.4446 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107071 NA NA 0.359186 0.392192 NA 0.428 NA 4.820514 1170 14 81329059 81329059 C A intronic CEP128 NA NA NA intronic ENSG00000100629 NA NA NA NA NA 14q31.1 NA NA Name=5 NA rs75446124 0.03 0.03 0.019 0.0219649 0.0686 NA 0.0331 0.0015 0.0164 0.07 NA 0.03 0.0041 0.0428 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.610059 1.610059 NA 0.068372 0.009986 NA 0.072 NA 4.820228 1170 1 210477579 210477579 A T intergenic SERTAD4,HHAT dist=61139;dist=24017 NA NA ncRNA_exonic ENSG00000233455 NA NA NA Score=493;Name=lod=134 NA 1q32.2 NA NA NA NA rs2057044 0.17 0.17 0.15 0.185903 0.1799 0.1419 0.1657 0.2118 0.2168 0.18 0.15 0.14 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232345 NA NA NA NA NA 0.065 NA 4.8201 1170 14 49840891 49840891 A C intergenic LINC00648,RPS29 dist=1576674;dist=202499 NA NA ncRNA_exonic ENSG00000258401 NA NA NA Score=676;Name=lod=742 NA 14q21.3 NA NA NA NA rs1952853 0.15 0.15 0.111 0.138379 0.1799 0.1548 0.2767 0.0454 0.1063 0.18 0.13 0.23 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273391 NA NA NA NA NA 0.159 NA 4.8201 1170 19 14578674 14578674 C T intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA Name=CTCF,SMC3_(ab9263) NA NA rs2287700 0.05 0.05 0.041 0.0549121 0.0636 0.0317 0.1182 0.0401 0.045 0.05 0.03 0.11 0.03 0.0602 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189276 NA NA 0.056189 0.041514 NA 0.08 NA 4.820011 1170 1 215793834 215793834 G A exonic KCTD3 NA synonymous SNV KCTD3:NM_016121:exon18:c.G2322A:p.A774A exonic ENSG00000136636 NA synonymous SNV ENSG00000136636:ENST00000259154:exon18:c.G2322A:p.A774A NA NA 1q41 Score=839;Name=V$SRF_Q6 NA NA NA rs14137 0.48 0.48 0.439 0.414337 0.6372 0.3492 0.6124 0.2867 0.2843 0.65 0.31 0.6 0.32 0.5547 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.353977 NA NA 0.655116 0.317522 NA 0.536 NA 4.8196506 1170 12 124298224 124298224 G T intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs75207436 0.04 0.04 0.042 0.0361422 0.0686 0.001 0.0389 0.0477 0.0215 0.07 NA 0.05 0.03 0.0537 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598883 NA NA 0.058256 0.053563 NA 0.029 NA 4.819444 1170 11 6486945 6486945 C T UTR5 TRIM3 NM_006458:c.-20G>A,NM_033278:c.-20G>A,NM_001248006:c.-20G>A NA NA UTR5 ENSG00000110171 ENST00000525074:c.-20G>A,ENST00000345851:c.-20G>A,ENST00000359518:c.-20G>A,ENST00000537602:c.-20G>A,ENST00000528227:c.-20G>A,ENST00000529529:c.-20G>A NA NA Score=333;Name=lod=30 NA 11p15.4 NA NA NA NA rs74053396 0.15 0.15 0.151 0.170327 0.167 0.0238 0.1643 0.2655 0.2004 0.16 0.03 0.14 0.27 0.1673 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.613822 1.613822 NA 0.179818 0.248523 NA 0.268 NA 4.8192154 1170 1 205028581 205028581 C G intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 Score=973;Name=V$AP2GAMMA_01 NA NA NA rs2305278 0.23 0.23 0.184 0.23103 0.1809 0.3948 0.2637 0.093 0.2771 0.18 0.41 0.27 0.08 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638326 NA NA NA NA NA 0.145 NA 4.8191 1170 2 43053974 43053974 A C intergenic HAAO,ZFP36L2 dist=34223;dist=395567 NA NA ncRNA_exonic ENSG00000232202 NA NA NA Score=393;Name=lod=53 NA 2p21 NA NA NA NA rs111771090 0.21 0.21 0.069 0.0964457 0.1809 0.0149 0.1527 0.0144 0.1646 0.27 0.15 0.24 0.15 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12053 NA NA NA NA NA 0.072 NA 4.8191 1170 7 23603318 23603318 A G intergenic TRA2A,CLK2P dist=31662;dist=21017 NA NA ncRNA_exonic ENSG00000224785 NA NA NA Score=879;Name=lod=4972 NA 7p15.3 NA NA NA NA rs227944 0.2 0.2 0.165 0.194089 0.1809 0.4246 0.1902 0.0045 0.229 0.18 0.4 0.18 0.0041 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200855 NA NA NA NA NA 0.123 NA 4.8191 1170 7 128210320 128210320 C T intergenic METTL2B,FLJ45340 dist=67342;dist=70975 NA NA ncRNA_exonic ENSG00000213280 NA NA NA Score=734;Name=lod=1288 NA 7q32.1 NA NA NA NA rs113702966 0.15 0.15 0.139 0.13139 0.1809 0.0526 0.1484 0.1929 0.0665 0.18 0.05 0.18 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503099 NA NA NA NA NA 0.152 NA 4.8191 1170 18 12367442 12367442 T C intronic AFG3L2 NA NA NA intronic ENSG00000141385 NA NA NA NA NA 18p11.21 NA NA Name=12 NA rs8093375 0.18 0.18 0.152 0.170727 0.1809 0.254 0.281 0.0893 0.1063 0.17 0.2 0.28 0.07 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390488 NA NA NA NA NA 0.138 NA 4.8191 1170 19 22793038 22793038 A G intergenic LOC440518,ZNF492 dist=6686;dist=24088 NA NA ncRNA_exonic ENSG00000269316 NA NA NA Score=747;Name=lod=1450 NA 19p12 NA NA NA NA rs8111395 0.38 0.38 0.37 0.411941 0.1809 0.3115 0.3919 0.7678 0.2863 0.18 0.3 0.36 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821417 NA NA NA NA NA 0.442 NA 4.8191 1170 13 45010616 45010616 G A intronic TSC22D1 NA NA NA intronic ENSG00000102804 NA NA NA NA NA 13q14.11 Score=730;Name=V$MEF2_04 Name=Pol2 NA NA rs7997320 0.35 0.35 0.292 0.324281 0.4036 0.3264 0.3602 0.2375 0.3323 0.42 0.34 0.35 0.25 0.368 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.801235 1.801235 NA 0.409651 0.261689 NA 0.29 NA 4.818749 1170 8 39855494 39855494 C G intronic IDO2 NA NA NA ncRNA_exonic ENSG00000253790 NA NA NA Score=691;Name=lod=855 NA 8p11.21 NA NA NA NA rs10099877 0.4 0.4 0.387 0.412141 0.5149 0.2619 0.4582 0.3215 0.5511 0.53 0.24 0.46 0.34 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423877 NA NA NA NA NA 0.362 NA 4.8184333 1170 8 39855660 39855660 C G intronic IDO2 NA NA NA ncRNA_exonic ENSG00000253790 NA NA NA Score=691;Name=lod=855 NA 8p11.21 NA NA NA NA rs877291 0.4 0.4 0.4 0.41274 0.5149 0.2629 0.4582 0.323 0.5511 0.53 0.24 0.46 0.34 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034557 NA NA NA NA NA 0.362 NA 4.8184333 1170 1 92457843 92457843 C T exonic BRDT NA nonsynonymous SNV BRDT:NM_001242807:exon13:c.C1949T:p.P650L,BRDT:NM_001242808:exon13:c.C1949T:p.P650L,BRDT:NM_001242806:exon14:c.C2099T:p.P700L,BRDT:NM_001242810:exon14:c.C1868T:p.P623L,BRDT:NM_001726:exon14:c.C2087T:p.P696L,BRDT:NM_207189:exon14:c.C2087T:p.P696L,BRDT:NM_001242805:exon15:c.C2087T:p.P696L exonic ENSG00000137948 NA nonsynonymous SNV ENSG00000137948:ENST00000394530:exon13:c.C1949T:p.P650L,ENSG00000137948:ENST00000370389:exon14:c.C1868T:p.P623L,ENSG00000137948:ENST00000399546:exon14:c.C2087T:p.P696L,ENSG00000137948:ENST00000402388:exon14:c.C2087T:p.P696L,ENSG00000137948:ENST00000362005:exon15:c.C2087T:p.P696L NA NA 1p22.1 NA NA NA NA rs10747493 0.71 0.71 0.701 0.710064 0.8429 0.6081 0.7738 0.5908 0.7945 0.84 0.57 0.77 0.63 0.8166 0.86 0.16 T 0.0 B 0.0 B 0.442 N 1.000 P -0.345 N 3.39 T -0.913 T 0.003 T 0.093 -1.498 0.017 0.031 -0.347 -0.908 2.431 -1.498 NA 0.13 0.855496 0.627553 NA 0.71 NA 4.8183374 1170 2 38512934 38512934 C T intergenic CYP1B1-AS1,ATL2 dist=103941;dist=9095 NA NA ncRNA_exonic ENSG00000213594 NA NA NA Score=730;Name=lod=1240 NA 2p22.2 NA NA NA NA rs4670859 0.14 0.14 0.137 0.151757 0.1819 0.0446 0.1571 0.1876 0.1789 0.18 0.05 0.14 0.17 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102497 NA NA NA NA NA 0.145 NA 4.8181 1170 2 241079382 241079382 T G intronic OTOS NA NA NA intronic ENSG00000178602 NA NA NA NA NA 2q37.3 NA NA Name=3 NA rs2291769 0.15 0.15 0.131 0.135184 0.1819 0.1706 0.1167 0.0862 0.1299 0.18 0.17 0.15 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068821 NA NA NA NA NA 0.087 NA 4.8181 1170 12 31907659 31907659 C T intergenic AMN1,H3F3C dist=25551;dist=36460 NA NA ncRNA_exonic ENSG00000223722 NA NA NA NA NA 12p11.21 NA Name=STAT1,STAT2 NA NA rs11613702 0.13 0.13 0.089 0.1252 0.1819 0.1101 0.2911 0.0144 0.1145 0.16 0.1 0.25 0.02 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150644 NA NA NA NA NA 0.181 NA 4.8181 1170 12 63052601 63052601 G T intronic PPM1H NA NA NA intronic ENSG00000111110 NA NA NA Score=724;Name=lod=1168 NA 12q14.1 NA NA NA NA rs11174588 0.1 0.1 0.096 0.0784744 0.1819 0.0149 0.1081 0.0265 0.0869 0.18 0.01 0.12 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330018 NA NA NA NA NA 0.152 NA 4.8181 1170 14 35981907 35981907 T C intergenic NFKBIA,INSM2 dist=107947;dist=21341 NA NA ncRNA_exonic ENSG00000258783 NA NA NA Score=660;Name=lod=640 NA 14q13.2 NA NA NA NA rs2899838 0.35 0.35 0.367 0.35024 0.1819 0.7133 0.1916 0.2663 0.3753 0.2 0.75 0.22 0.24 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.694947 1.694947 NA NA NA NA 0.478 NA 4.8181 1170 15 70347362 70347362 C A intronic TLE3 NA NA NA intronic ENSG00000140332 NA NA NA NA NA 15q23 NA NA NA NA rs4777227 0.67 0.67 0.648 0.717851 0.7038 0.7708 0.6484 0.5794 0.9141 0.68 0.75 0.63 0.58 0.765 0.75 0.25 T . . . . . . 1.000 P . . . . -1.041 T 0.000 T . -0.725 0.893 -5.31 -1.780 -0.649 8.379 -0.724716 NA NA 0.713515 0.629552 NA 0.638 NA 4.817685 1170 2 38512793 38512793 A G intergenic CYP1B1-AS1,ATL2 dist=103800;dist=9236 NA NA ncRNA_exonic ENSG00000213594 NA NA NA Score=680;Name=lod=770 NA 2p22.2 NA NA NA NA rs17420264 0.14 0.14 0.125 0.152756 0.1829 0.0446 0.1556 0.1906 0.18 0.18 0.05 0.14 0.17 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01632 NA NA NA NA NA 0.159 NA 4.8171 1170 6 7517239 7517239 G A intergenic RIOK1,DSP dist=98969;dist=24631 NA NA ncRNA_exonic ENSG00000234115 NA NA NA Score=706;Name=lod=988 NA 6p24.3 NA NA NA NA rs6597269 0.21 0.21 0.208 0.225839 0.1829 0.1349 0.1671 0.4463 0.1074 0.16 0.1 0.17 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159368 NA NA NA NA ID=COSN167684;OCCURENCE=1(large_intestine) 0.225 NA 4.8171 1170 10 124166018 124166018 T G intronic PLEKHA1 NA NA NA intronic ENSG00000107679 NA NA NA Score=251;Name=lod=14 NA 10q26.13 NA NA NA NA rs41310276 0.09 0.09 0.084 0.0754792 0.1829 NA 0.0893 0.0719 0.0378 0.16 NA 0.09 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.449305 2.449305 NA NA NA NA 0.058 NA 4.8171 1170 11 4745141 4745141 G A intergenic OR51E2,OR51F1 dist=26065;dist=45068 NA NA ncRNA_exonic ENSG00000271602 NA NA NA Score=705;Name=lod=979 NA 11p15.4 NA NA NA NA rs11033543 0.09 0.09 0.069 0.072484 0.1829 NA 0.1282 0.0098 0.0787 0.18 NA 0.14 0.01 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359472 NA NA NA NA NA 0.043 NA 4.8171 1170 16 69373894 69373894 T A intronic NIP7 NA NA NA intronic ENSG00000132603,ENSG00000259900,ENSG00000260371 NA NA NA NA NA 16q22.1 NA Name=Egr-1,Pol2 NA NA rs11643686 0.03 0.03 0.028 0.0257588 0.0596 0.0139 0.0389 0.0045 0.0225 0.06 0.01 0.05 0.0041 0.0528 0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.778483 1.778483 NA 0.070698 0.014331 NA 0.007 NA 4.816902 1170 10 45652251 45652251 T C ncRNA_exonic ANKRD30BP3 NA NA NA ncRNA_exonic ENSG00000230501,ENSG00000243349 NA NA NA Score=363;Name=lod=40 NA 10q11.21 NA NA NA NA rs3862884 0.59 0.59 0.518 0.669529 0.8499 0.7937 0.7536 0.2753 0.8292 0.73 0.64 0.67 0.27 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037491 NA NA NA NA NA 0.645 NA 4.8167666 1170 1 24421334 24421334 G T intronic MYOM3 NA NA NA intronic ENSG00000142661 NA NA NA NA NA 1p36.11 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=3 NA rs6678411 0.29 0.29 0.252 0.229832 0.4274 0.3373 0.2161 0.0348 0.1892 0.45 0.31 0.24 0.03 0.3494 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443634 NA NA 0.406853 0.093555 NA 0.145 NA 4.816347 1170 19 48601454 48601454 T C exonic PLA2G4C NA synonymous SNV PLA2G4C:NM_001159322:exon6:c.A540G:p.P180P,PLA2G4C:NM_001159323:exon6:c.A510G:p.P170P,PLA2G4C:NM_003706:exon6:c.A510G:p.P170P exonic ENSG00000105499 NA synonymous SNV ENSG00000105499:ENST00000601946:exon1:c.A12G:p.P4P,ENSG00000105499:ENST00000413144:exon5:c.A510G:p.P170P,ENSG00000105499:ENST00000354276:exon6:c.A510G:p.P170P,ENSG00000105499:ENST00000599111:exon6:c.A540G:p.P180P,ENSG00000105499:ENST00000599921:exon6:c.A510G:p.P170P Score=333;Name=lod=30 NA 19q13.33 NA NA NA NA rs251684 0.66 0.66 0.65 0.663938 0.6083 0.7411 0.6441 0.7179 0.5828 0.58 0.72 0.65 0.73 0.6131 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.03879 2.03879 NA 0.62907 0.695188 NA 0.754 NA 4.8161966 1170 2 200524744 200524744 G A intergenic SATB2-AS1,FONG dist=187263;dist=100515 NA NA ncRNA_exonic ENSG00000213938 NA NA NA Score=842;Name=lod=3520 NA 2q33.1 NA NA NA NA rs72920213 0.27 0.27 0.224 0.239417 0.1839 0.4613 0.3631 0.0976 0.1718 0.2 0.47 0.31 0.09 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561301 NA NA NA NA ID=COSN166371;OCCURENCE=2(ovary),1(large_intestine) 0.167 NA 4.8161 1170 4 174537977 174537977 A G intergenic NBLA00301,FBXO8 dist=74996;dist=619833 NA NA ncRNA_exonic ENSG00000234801 NA NA NA Score=775;Name=lod=1887 NA 4q34.1 NA NA NA NA rs72696236 0.14 0.14 0.137 0.14357 0.1839 0.248 0.0922 0.0567 0.1483 0.18 0.23 0.07 0.04 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58975 NA NA NA NA ID=COSN167374;OCCURENCE=1(large_intestine) 0.167 NA 4.8161 1170 11 4745165 4745165 C T intergenic OR51E2,OR51F1 dist=26089;dist=45044 NA NA ncRNA_exonic ENSG00000271602 NA NA NA Score=705;Name=lod=979 NA 11p15.4 NA NA NA NA rs11033544 0.09 0.09 0.076 0.0728834 0.1839 0.001 0.1282 0.0106 0.0777 0.18 NA 0.14 0.01 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60678 NA NA NA NA NA 0.043 NA 4.8161 1170 1 110173775 110173775 G T UTR3 AMPD2 NM_001257360:c.*1G>T,NM_139156:c.*1G>T,NM_004037:c.*1G>T,NM_001257361:c.*1G>T,NM_203404:c.*1G>T NA NA UTR3 ENSG00000116337 ENST00000342115:c.*1G>T,ENST00000256578:c.*1G>T,ENST00000358729:c.*1G>T,ENST00000369840:c.*1G>T,ENST00000528454:c.*1G>T,ENST00000393688:c.*1G>T,ENST00000476688:c.*1G>T NA NA Score=355;Name=lod=37 NA 1p13.3 NA NA NA NA rs568686 0.11 0.11 0.103 0.125799 0.172 0.0446 0.1282 0.1233 0.1636 0.16 0.03 0.13 0.11 0.191 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.248688 3.248688 NA 0.154626 0.139863 NA 0.203 NA 4.8157074 1170 10 72536936 72536936 A G exonic TBATA NA synonymous SNV TBATA:NM_152710:exon7:c.T663C:p.A221A exonic ENSG00000166220 NA synonymous SNV ENSG00000166220:ENST00000456372:exon5:c.T663C:p.A221A,ENSG00000166220:ENST00000299290:exon7:c.T663C:p.A221A NA NA 10q22.1 NA NA NA NA rs2254433 0.23 0.23 0.23 0.236621 0.2863 0.1091 0.1571 0.3268 0.2515 0.3 0.1 0.2 0.32 0.2689 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186146 NA NA 0.29593 0.349977 NA 0.217 NA 4.8155366 1170 11 67352256 67352256 C A intronic GSTP1 NA NA NA intronic ENSG00000084207 NA NA NA NA NA 11q13.2 NA Name=Pol2(b),STAT3,GR Name=7 NA rs762803 0.32 0.32 0.333 0.311901 0.4095 0.1567 0.2709 0.3873 0.2986 0.41 0.15 0.31 0.39 0.3512 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410625 NA NA 0.424184 0.380722 NA 0.399 NA 4.815116 1170 4 117520689 117520689 C G intergenic MIR1973,TRAM1L1 dist=299765;dist=484021 NA NA ncRNA_exonic ENSG00000213493 NA NA NA Score=632;Name=lod=495 NA 4q26 NA NA NA NA rs76540903 0.2 0.2 0.206 0.239816 0.1849 0.2312 0.219 0.1679 0.4172 0.19 0.27 0.17 0.17 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044852 NA NA NA NA NA 0.174 NA 4.8151 1170 12 122991279 122991279 C T intronic RSRC2 NA NA NA intronic ENSG00000111011 NA NA NA NA NA 12q24.31 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs11058480 0.23 0.23 0.201 0.213259 0.1849 0.4216 0.1571 0.0756 0.2536 0.18 0.45 0.19 0.07 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.10027 NA NA NA NA NA 0.123 NA 4.8151 1170 20 47276381 47276381 A G intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA Name=CTCF NA NA rs2294910 0.16 0.16 0.139 0.174121 0.1849 0.1597 0.2147 0.0847 0.2699 0.18 0.15 0.23 0.07 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.028044 NA NA NA NA NA 0.13 NA 4.8151 1171 2 113346413 113346413 C G intronic CHCHD5 NA NA NA UTR3 ENSG00000125611 ENST00000409719:c.*2303C>G NA NA NA NA 2q13 NA Name=CEBPB Name=33 NA rs3748024 0.29 0.29 0.271 0.281949 0.4592 0.2331 0.3646 0.0514 0.4029 0.45 0.2 0.38 0.06 0.4083 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.457144 1.457144 NA 0.484302 0.128915 NA 0.37 NA 4.8148647 1171 20 44574533 44574533 C T intronic PCIF1 NA NA NA intronic ENSG00000100982 NA NA NA NA NA 20q13.12 NA Name=c-Myc,ZNF263,Max,Pol2 Name=37 NA rs11696196 0.22 0.22 0.216 0.183307 0.4254 NA 0.304 0.0651 0.1973 0.43 NA 0.33 0.07 0.3296 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.709704 NA NA 0.430233 0.138221 NA 0.312 NA 4.814767 1171 3 47912703 47912703 G A intronic MAP4 NA NA NA intronic ENSG00000047849 NA NA NA NA NA 3p21.31 NA Name=TAL1_(SC-12984) NA NA rs17729010 0.03 0.03 0.026 0.0199681 0.0686 NA 0.036 0.0038 0.001 0.07 NA 0.04 0.01 0.0477 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253534 NA NA 0.068953 0.015433 NA 0.051 NA 4.814747 1171 11 823809 823809 C G exonic PNPLA2 NA synonymous SNV PNPLA2:NM_020376:exon7:c.C873G:p.P291P exonic ENSG00000177666 NA synonymous SNV ENSG00000177666:ENST00000336615:exon7:c.C873G:p.P291P NA NA 11p15.5 NA NA NA NA rs1135628 0.25 0.25 0.239 0.267173 0.2644 0.4127 0.1888 0.0809 0.4274 0.27 0.36 0.22 0.09 0.3462 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106176 NA NA 0.241428 0.09272 NA 0.232 NA 4.8146386 1171 12 4737318 4737318 A G exonic AKAP3 NA synonymous SNV AKAP3:NM_006422:exon4:c.T750C:p.N250N exonic ENSG00000111254 NA synonymous SNV ENSG00000111254:ENST00000228850:exon4:c.T750C:p.N250N,ENSG00000111254:ENST00000545990:exon5:c.T750C:p.N250N Score=451;Name=lod=91 NA 12p13.32 Score=707;Name=V$HOX13_01 NA NA NA rs7960207 0.83 0.83 0.81 0.817492 0.9761 0.7391 0.9366 0.677 0.8405 0.97 0.7 0.94 0.7 0.9097 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283817 NA NA 0.966279 0.707671 NA 0.877 NA 4.8145876 1171 19 12802153 12802153 C A intronic FBXW9 NA NA NA intronic ENSG00000132004 NA NA NA Score=472;Name=lod=111 NA 19p13.2 NA NA NA NA rs45478502 0.04 0.04 0.025 0.0223642 0.0706 NA 0.0375 0.0038 0.0102 0.07 NA 0.05 0.01 0.0497 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.395223 1.395223 NA 0.065212 0.011486 NA 0.007 NA 4.814488 1171 16 10206652 10206652 G A intronic GRIN2A NA NA NA ncRNA_exonic ENSG00000261647 NA NA NA Score=809;Name=lod=2586 NA 16p13.2 NA NA NA NA rs1900718 0.46 0.46 0.416 0.457468 0.5189 0.5496 0.5893 0.2292 0.5143 0.52 0.54 0.57 0.21 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106863 NA NA NA NA NA 0.493 NA 4.8144333 1171 22 40417780 40417780 C T exonic FAM83F NA synonymous SNV FAM83F:NM_138435:exon4:c.C1266T:p.N422N exonic ENSG00000133477 NA synonymous SNV ENSG00000133477:ENST00000333407:exon4:c.C1266T:p.N422N NA NA 22q13.1 NA NA NA NA rs5995793 0.24 0.24 0.234 0.288139 0.2873 0.0853 0.1628 0.3979 0.4387 0.3 0.08 0.17 0.37 0.2761 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.212028 NA NA 0.288855 0.336591 NA 0.283 NA 4.8144116 1171 20 9497057 9497057 A G intronic LAMP5 NA NA NA intronic ENSG00000125869 NA NA NA NA NA 20p12.2 NA Name=GATA-2 Name=30 NA rs2232267 0.45 0.45 0.477 0.48123 0.3668 0.2063 0.3847 0.8601 0.4387 0.37 0.23 0.41 0.86 0.4202 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068893 NA NA 0.398837 0.8064 NA 0.493 NA 4.814163 1171 1 205568438 205568438 G T intronic MFSD4 NA NA NA intronic ENSG00000174514 NA NA NA NA NA 1q32.1 NA NA Name=15 NA rs2282451 0.32 0.32 0.27 0.351438 0.1859 0.6399 0.3948 0.1536 0.4611 0.19 0.6 0.34 0.15 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.558811 1.558811 NA NA NA NA 0.297 NA 4.8141 1171 11 16506090 16506090 G A intergenic SOX6,C11orf58 dist=8155;dist=254058 NA NA ncRNA_exonic ENSG00000213785 NA NA NA Score=606;Name=lod=388 NA 11p15.1 NA NA NA NA rs10832616 0.2 0.2 0.163 0.194089 0.1859 0.2956 0.33 0.0522 0.1933 0.19 0.28 0.25 0.07 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487718 NA NA NA NA NA 0.152 NA 4.8141 1171 14 70530530 70530530 G T intronic SLC8A3 NA NA NA intronic ENSG00000100678 NA NA NA Score=717;Name=lod=1097 NA 14q24.2 NA NA NA NA rs72729840 0.04 0.04 0.04 0.0365415 0.0716 NA 0.0231 0.0431 0.0389 0.07 NA 0.03 0.06 0.0502 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.675211 3.675211 NA 0.064186 0.033137 NA 0.058 NA 4.814014 1171 8 27462481 27462481 A G exonic CLU NA synonymous SNV CLU:NM_001831:exon5:c.T789C:p.H263H exonic ENSG00000120885 NA synonymous SNV ENSG00000120885:ENST00000523500:exon4:c.T789C:p.H263H,ENSG00000120885:ENST00000316403:exon5:c.T789C:p.H263H,ENSG00000120885:ENST00000405140:exon5:c.T789C:p.H263H,ENSG00000120885:ENST00000546343:exon5:c.T822C:p.H274H,ENSG00000120885:ENST00000560366:exon5:c.T945C:p.H315H,ENSG00000120885:ENST00000560566:exon5:c.T822C:p.H274H,ENSG00000120885:ENST00000523589:exon6:c.T687C:p.H229H NA NA 8p21.1 NA NA NA NA rs7982 0.65 0.65 0.627 0.664537 0.6143 0.7887 0.6556 0.5749 0.7157 0.61 0.81 0.64 0.55 0.6357 0.81 . . . . . . . . 1.000 P . . . . . . . . . 0.11 4.591 -0.917 -0.708 -0.719 4.812 0.109767 NA NA 0.603023 0.587835 NA 0.58 NA 4.8136436 1171 1 243419429 243419429 T A UTR5 SDCCAG8 NM_006642:c.-47T>A NA NA UTR5 ENSG00000054282 ENST00000391846:c.-47T>A,ENST00000355875:c.-47T>A,ENST00000366541:c.-47T>A,ENST00000343783:c.-30160T>A NA NA Score=295;Name=lod=21 NA 1q43 NA Name=TAF1,Pol2(b),E2F4,HMGN3,GABP,Pol2,STAT3,Pol2(phosphoS2),Sin3Ak-20,HA-E2F1,Pol2-4H8,E2F6,ZNF263,KAP1,CCNT2,STAT1,NFKB,HEY1,ELF1_(SC-631),Oct-2,TCF12,USF-1,GTF2B,TBP,CHD2_(N-1250),GTF2F1_(RAP-74) NA NA rs3904682 0.49 0.49 0.446 0.412141 0.5209 0.7381 0.5548 0.0635 0.3344 0.52 0.74 0.55 0.1 0.4852 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.420685 2.420685 NA 0.513605 0.131185 NA 0.384 NA 4.8136284 1171 19 8841558 8841558 T C exonic OR2Z1 NA synonymous SNV OR2Z1:NM_001004699:exon1:c.T168C:p.H56H exonic ENSG00000181733 NA synonymous SNV ENSG00000181733:ENST00000324060:exon1:c.T168C:p.H56H Score=329;Name=lod=29 NA 19p13.2 NA NA NA NA rs28324 0.64 0.64 0.644 0.639377 0.6133 0.4563 0.6182 0.9652 0.4294 0.61 0.46 0.58 0.96 0.6119 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793295 NA NA 0.628023 0.914889 NA 0.667 NA 4.8134436 1171 6 111337078 111337078 A G intronic RPF2 NA NA NA intronic ENSG00000197498 NA NA NA NA NA 6q21 NA NA Name=11 NA rs4947093 0.05 0.05 0.031 0.061901 0.0537 0.0496 0.1182 0.0159 0.1053 0.06 0.03 0.1 0.02 0.0708 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180323 NA NA 0.062209 0.028597 NA 0.029 NA 4.813291 1171 2 139659956 139659956 C T intergenic YY1P2,LRP1B dist=3212;dist=1329040 NA NA ncRNA_exonic ENSG00000232992 NA NA NA Score=800;Name=lod=2387 NA 2q22.1 NA NA NA NA rs17660836 0.12 0.12 0.118 0.134585 0.1869 0.0655 0.0879 0.1067 0.2229 0.19 0.05 0.09 0.11 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557987 NA NA NA NA NA 0.087 NA 4.8131 1171 3 142895511 142895511 C T intergenic CHST2,SLC9A9 dist=52655;dist=88553 NA NA ncRNA_exonic ENSG00000244171 NA NA NA Score=831;Name=lod=3187 NA 3q24 NA NA NA NA rs894179 0.18 0.18 0.152 0.173922 0.1869 0.0446 0.1297 0.3449 0.0941 0.19 0.04 0.14 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535974 NA NA NA NA NA 0.065 NA 4.8131 1171 6 137865100 137865100 C A intergenic OLIG3,LOC100130476 dist=49569;dist=279707 NA NA ncRNA_exonic ENSG00000213108 NA NA NA Score=730;Name=lod=1234 NA 6q23.3 NA NA NA NA rs12661817 0.26 0.26 0.233 0.219249 0.1869 0.4127 0.3228 0.0855 0.1605 0.2 0.44 0.31 0.12 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662559 NA NA NA NA NA 0.159 NA 4.8131 1171 10 115341545 115341545 G C intronic HABP2 NA NA NA intronic ENSG00000148702 NA NA NA NA NA 10q25.3 NA Name=CEBPB NA NA rs2181082 0.21 0.21 0.196 0.188698 0.1869 0.3363 0.2161 0.1014 0.137 0.17 0.33 0.23 0.1 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079613 NA NA NA NA NA 0.174 NA 4.8131 1171 8 71550144 71550144 A G ncRNA_intronic LOC286190 NA NA NA intronic ENSG00000147592,ENSG00000246366 NA NA NA Score=259;Name=lod=15 NA 8q13.3 NA NA NA NA rs35571096 0.19 0.19 0.199 0.202875 0.166 0.0159 0.1902 0.4289 0.137 0.17 0.01 0.17 0.43 0.1774 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401408 NA NA 0.177529 0.359936 NA 0.275 NA 4.8124043 1171 3 180490916 180490916 G A intergenic CCDC39,FXR1 dist=93633;dist=139318 NA NA ncRNA_exonic ENSG00000242068 NA NA NA Score=512;Name=lod=160 NA 3q26.33 NA NA NA NA rs4521229 0.31 0.31 0.307 0.336062 0.1879 0.4196 0.2579 0.4153 0.3507 0.19 0.41 0.25 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167364 NA NA NA NA NA 0.275 NA 4.8121 1171 9 124094590 124094590 A T intronic GSN NA NA NA intronic ENSG00000148180 NA NA NA NA NA 9q33.2 NA Name=CTCF NA NA rs7039494 0.16 0.16 0.148 0.152356 0.1879 0.1835 0.1254 0.1286 0.135 0.17 0.19 0.16 0.12 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105791 NA NA NA NA NA 0.13 NA 4.8121 1171 19 20369503 20369503 C G intergenic ZNF486,MIR1270-1 dist=58204;dist=140578 NA NA ncRNA_exonic ENSG00000213985 NA NA NA Score=772;Name=lod=1828 NA 19p12 NA NA NA NA rs8103002 0.4 0.4 0.411 0.414337 0.1879 0.4633 0.3501 0.6596 0.3108 0.19 0.51 0.31 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031868 NA 1 NA NA NA 0.377 NA 4.8121 1171 11 57947264 57947264 C G exonic OR9Q1 NA synonymous SNV OR9Q1:NM_001005212:exon3:c.C348G:p.A116A exonic ENSG00000186509 NA synonymous SNV ENSG00000186509:ENST00000335397:exon3:c.C348G:p.A116A NA NA 11q12.1 NA NA NA NA rs11229273 0.29 0.29 0.271 0.335264 0.2684 0.5754 0.2406 0.093 0.5511 0.26 0.55 0.23 0.09 0.3105 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459136 NA NA 0.276071 0.107224 NA 0.326 NA 4.8116956 1171 14 22783122 22783122 G A intergenic OR4E2,DAD1 dist=648884;dist=250685 NA NA exonic ENSG00000211819 NA nonsynonymous SNV ENSG00000211819:ENST00000390467:exon2:c.G88A:p.V30I NA NA 14q11.2 NA NA NA NA rs61733853 0.01 0.01 0.004 0.00499201 0.0099 NA 0.0058 0.0008 0.0102 0.01 NA 0.01 0.002 0.0059 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.507489 1.507489 0.02 0.005841 0.001616 NA 0.007 NA 4.8116924 1171 1 33990366 33990366 C G intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA Name=12 NA rs35673825 0.2 0.2 0.179 0.204473 0.1889 0.369 0.2334 0.0204 0.2791 0.19 0.35 0.2 0.03 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203248 NA NA NA NA NA 0.094 NA 4.8111 1171 3 128257206 128257206 T A intergenic LOC90246,C3orf27 dist=27777;dist=33637 NA NA ncRNA_exonic ENSG00000239405 NA NA NA Score=727;Name=lod=1200 NA 3q21.3 NA NA NA NA rs75077124 0.19 0.19 0.162 0.189696 0.1889 0.3274 0.232 0.0318 0.2321 0.18 0.31 0.23 0.05 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431251 NA NA NA NA NA 0.109 NA 4.8111 1171 4 11374296 11374296 T A intergenic MIR572,HS3ST1 dist=3751;dist=25692 NA NA ncRNA_exonic ENSG00000250896 NA NA NA Score=728;Name=lod=1217 NA 4p15.33 NA NA NA NA rs62298091 0.15 0.15 0.145 0.157548 0.1889 0.0794 0.1095 0.1694 0.2239 0.2 0.09 0.12 0.16 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032221 NA NA NA NA NA 0.116 NA 4.8111 1171 7 128757650 128757650 T A intergenic TPI1P2,LOC407835 dist=60357;dist=8675 NA NA ncRNA_exonic ENSG00000240416 NA NA NA Score=609;Name=lod=399 NA 7q32.1 NA NA NA NA rs56797488 0.29 0.29 0.271 0.307308 0.1889 0.3194 0.3256 0.4198 0.2515 0.18 0.3 0.32 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669555 NA NA NA NA NA 0.261 NA 4.8111 1171 14 39684613 39684613 T C intergenic PNN,MIA2 dist=32191;dist=18512 NA NA ncRNA_exonic ENSG00000270503 NA NA NA Score=718;Name=lod=1108 NA 14q21.1 NA NA NA NA rs7157271 0.34 0.34 0.335 0.330072 0.1889 0.4554 0.2003 0.5166 0.1861 0.18 0.47 0.23 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.160176 NA NA NA NA NA 0.29 NA 4.8111 1171 17 10537142 10537142 C T intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA Name=POU2F2,Oct-2 NA NA rs78946532 0.09 0.09 0.073 0.0628994 0.1889 0.001 0.0778 0.0234 0.0399 0.19 NA 0.09 0.04 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18877 NA NA NA NA NA 0.087 NA 4.8111 1171 22 20961109 20961109 C T intergenic MED15,POM121L4P dist=19190;dist=82734 NA NA ncRNA_exonic ENSG00000223553 NA NA NA Score=589;Name=lod=331 NA 22q11.21 NA NA NA NA rs13340098 0.17 0.17 0.176 0.202676 0.1889 0.13 0.1585 0.2095 0.3139 0.19 0.1 0.16 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.478432 2.478432 NA NA NA NA 0.159 NA 4.8111 1171 16 66547777 66547777 G C intronic TK2 NA NA NA intronic ENSG00000166548,ENSG00000260851 NA NA NA NA NA 16q21 NA NA Name=7 NA rs2241620 0.15 0.15 0.142 0.190096 0.0547 0.1468 0.1023 0.3707 0.1922 0.05 0.15 0.09 0.35 0.1344 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727152 NA NA NA NA NA 0.087 NA 4.8109 1171 6 29693726 29693726 G T intronic HLA-F NA NA NA intronic ENSG00000204642 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs114325231 0.06 0.06 0.045 0.0756789 0.0586 0.1567 0.0375 0.0008 0.138 0.06 0.14 0.03 0.002 0.0685 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.209597 NA NA 0.062225 0.007225 NA 0.087 NA 4.810675 1171 1 38025103 38025103 T C intronic DNALI1 NA NA NA intronic ENSG00000163879 NA NA NA Score=472;Name=lod=110 NA 1p34.3 NA NA NA NA rs41267309 0.03 0.03 0.014 0.0229633 0.0547 0.0089 0.0202 0.0023 0.0348 0.06 0.0035 0.02 0.0041 0.0568 0.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.700029 2.700029 NA 0.077907 0.017703 NA 0.029 NA 4.810593 1171 5 178337122 178337122 G A intronic ZFP2 NA NA NA ncRNA_exonic ENSG00000213328 NA NA NA Score=750;Name=lod=1484 NA 5q35.3 NA NA NA NA rs2004503 0.46 0.46 0.444 0.454273 0.5229 0.498 0.3991 0.3812 0.4765 0.53 0.52 0.4 0.33 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.857423 1.857423 NA NA NA ID=COSN167665;OCCURENCE=1(large_intestine) 0.435 NA 4.8104333 1171 5 171480055 171480055 G A intronic STK10 NA NA NA intronic ENSG00000072786 NA NA NA Score=637;Name=lod=518 NA 5q35.1 NA Name=CTCF NA NA rs4569891 0.61 0.61 0.588 NA NA NA NA NA NA 0.6 0.75 0.67 0.39 0.5896 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.720612 1.720612 NA 0.600233 0.465956 NA 0.652 NA 4.810167 1171 7 56297202 56297202 C G intergenic NUPR1L,LOC650226 dist=113112;dist=194195 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1625374 0.4 0.4 0.417 0.409345 0.1899 0.6111 0.2262 0.5696 0.3405 0.2 0.62 0.26 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238766 NA NA NA NA NA 0.377 NA 4.8101 1171 7 100453208 100453208 T C intronic SLC12A9 NA NA NA intronic ENSG00000146828 NA NA NA NA Name=Resting heart rate 7q22.1 NA NA NA NA rs314370 0.11 0.11 0.097 0.091254 0.1899 0.0327 0.1037 0.0416 0.1084 0.2 0.03 0.12 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065127 NA NA NA NA NA 0.116 NA 4.8101 1171 10 103541948 103541948 C T intronic NPM3 NA NA NA intronic ENSG00000107833 NA NA NA NA NA 10q24.32 NA Name=ZNF263 NA NA rs3816354 0.29 0.29 0.278 0.26258 0.1899 0.5069 0.1974 0.2088 0.2045 0.18 0.54 0.24 0.22 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50516 NA NA NA NA NA 0.304 NA 4.8101 1171 13 32799288 32799288 A G intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA Name=19 NA rs1029398 0.27 0.27 0.273 0.297923 0.1899 0.3403 0.2133 0.3812 0.3129 0.19 0.34 0.21 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516015 NA NA NA NA ID=COSN164456;OCCURENCE=1(NS) 0.283 NA 4.8101 1171 12 27849795 27849795 C T exonic REP15 NA synonymous SNV REP15:NM_001029874:exon1:c.C300T:p.S100S exonic ENSG00000174236 NA synonymous SNV ENSG00000174236:ENST00000310791:exon1:c.C300T:p.S100S NA NA 12p11.22 Score=809;Name=V$OCT1_01 NA NA NA rs929948 0.53 0.53 0.628 0.596046 0.6262 0.5268 0.6888 0.6399 0.5112 0.53 0.48 0.6 0.53 0.6137 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737945 NA NA 0.61686 0.629823 NA NA NA 4.8099066 1171 6 32088854 32088854 G C exonic ATF6B NA synonymous SNV ATF6B:NM_001136153:exon7:c.C603G:p.S201S,ATF6B:NM_004381:exon7:c.C612G:p.S204S exonic ENSG00000213676 NA synonymous SNV ENSG00000213676:ENST00000375201:exon7:c.C603G:p.S201S,ENSG00000213676:ENST00000375203:exon7:c.C612G:p.S204S NA NA 6p21.33 NA NA NA NA rs2228628 0.21 0.21 0.187 0.17512 0.2982 0.1776 0.2968 0.0197 0.1697 0.3 0.2 0.31 0.03 0.2729 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.278487 NA NA 0.285814 0.068089 NA 0.29 NA 4.8097526 1171 1 19433449 19433449 A G exonic UBR4 NA synonymous SNV UBR4:NM_020765:exon82:c.T12117C:p.V4039V exonic ENSG00000127481 NA synonymous SNV ENSG00000127481:ENST00000375217:exon82:c.T12096C:p.V4032V,ENSG00000127481:ENST00000375226:exon82:c.T12045C:p.V4015V,ENSG00000127481:ENST00000375254:exon82:c.T12117C:p.V4039V,ENSG00000127481:ENST00000375267:exon82:c.T12117C:p.V4039V NA NA 1p36.13 Score=674;Name=V$P53_01 NA NA NA rs6426677 0.73 0.73 0.704 0.719249 0.6083 0.8105 0.7334 0.8366 0.5706 0.6 0.82 0.71 0.82 0.6461 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477369 NA NA 0.602558 0.806854 NA 0.725 NA 4.8097086 1171 17 42428538 42428538 G A intronic GRN NA NA NA intronic ENSG00000030582 NA NA NA NA NA 17q21.31 NA Name=CTCF NA NA rs72824736 0.04 0.04 0.028 0.0219649 0.0716 NA 0.0259 0.0076 0.0102 0.08 NA 0.04 0.02 0.0482 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598153 NA NA 0.070581 0.017703 NA 0.101 NA 4.809619 1171 6 32629718 32629718 G A intronic HLA-DQB1 NA NA NA ncRNA_intronic ENSG00000241287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs36233043 0.18 0.18 0.192 0.205072 0.1909 0.2331 0.1484 0.2201 0.2106 0.19 0.14 0.17 0.22 0.1779 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045941 NA NA 0.155039 0.184443 NA 0.167 NA 4.8094943 1171 11 119244095 119244095 C T exonic USP2 NA synonymous SNV USP2:NM_004205:exon2:c.G96A:p.P32P exonic ENSG00000036672 NA synonymous SNV ENSG00000036672:ENST00000260187:exon2:c.G96A:p.P32P,ENSG00000036672:ENST00000527843:exon2:c.G96A:p.P32P,ENSG00000036672:ENST00000531070:exon2:c.G96A:p.P32P Score=560;Name=lod=252 NA 11q23.3 NA NA NA NA rs587985 0.67 0.67 0.662 0.650958 0.6252 0.8353 0.6095 0.5174 0.6973 0.62 0.85 0.59 0.59 0.627 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100786 NA NA 0.605006 0.540473 NA 0.652 NA 4.8094606 1171 1 44967438 44967438 A T intronic RNF220 NA NA NA intronic ENSG00000187147 NA NA NA NA NA 1p34.1 NA NA Name=6 NA rs61787494 0.16 0.16 0.14 0.161941 0.1909 0.1369 0.2507 0.1218 0.1493 0.2 0.09 0.21 0.13 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008422 NA NA NA NA NA 0.116 NA 4.8091 1171 1 216051287 216051287 A G intronic USH2A NA NA NA intronic ENSG00000042781 NA NA NA Score=489;Name=lod=130 NA 1q41 NA NA NA NA rs7518358 0.29 0.29 0.291 0.326078 0.1909 0.4226 0.1945 0.3744 0.3937 0.18 0.42 0.18 0.36 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.45244 1.45244 NA NA NA NA 0.29 NA 4.8091 1171 1 224805112 224805112 C T intronic CNIH3 NA NA NA intronic ENSG00000143786 NA NA NA NA NA 1q42.12 NA Name=SUZ12 NA NA rs1532557 0.29 0.29 0.228 0.295927 0.1909 0.3393 0.3588 0.3222 0.2791 0.21 0.34 0.35 0.29 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451989 1.451989 NA NA NA NA 0.159 NA 4.8091 1171 3 142895298 142895298 T G intergenic CHST2,SLC9A9 dist=52442;dist=88766 NA NA ncRNA_exonic ENSG00000244171 NA NA NA Score=831;Name=lod=3187 NA 3q24 NA NA NA NA rs894178 NA NA 0.13 0.182708 0.1909 0.0466 0.1326 0.3722 0.0941 NA NA NA NA NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199369 NA NA NA NA NA 0.087 NA 4.8091 1171 5 31538235 31538235 A C intronic C5orf22 NA NA NA intronic ENSG00000082213 NA NA NA NA NA 5p13.3 NA NA Name=36 NA rs7720494 0.15 0.15 0.139 0.161142 0.1909 0.0218 0.1916 0.2247 0.1667 0.18 0.03 0.21 0.21 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.933708 1.933708 NA NA NA NA 0.188 NA 4.8091 1171 6 70048739 70048739 A C intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA Score=776;Name=lod=1898 NA 6q13 NA NA NA NA rs11751775 0.23 0.23 0.227 0.222843 0.1909 0.121 0.2478 0.4085 0.092 0.19 0.12 0.23 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96739 NA NA NA NA ID=COSN167824;OCCURENCE=1(large_intestine),2(endometrium) 0.261 NA 4.8091 1171 7 105170941 105170941 C T intergenic PUS7,RINT1 dist=8256;dist=1591 NA NA ncRNA_exonic ENSG00000223886 NA NA NA Score=472;Name=lod=111 NA 7q22.3 NA NA NA NA rs55983796 0.1 0.1 0.091 0.120208 0.1909 0.0228 0.1513 0.0151 0.2679 0.21 0.01 0.15 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533952 NA NA NA NA NA 0.094 NA 4.8091 1171 6 166571935 166571935 C T exonic T NA synonymous SNV T:NM_001270484:exon8:c.G1002A:p.A334A,T:NM_003181:exon9:c.G1176A:p.A392A exonic ENSG00000164458 NA synonymous SNV ENSG00000164458:ENST00000366871:exon8:c.G1002A:p.A334A,ENSG00000164458:ENST00000366876:exon8:c.G1179A:p.A393A,ENSG00000164458:ENST00000296946:exon9:c.G1176A:p.A392A NA NA 6q27 NA NA NA NA rs35819705 0.23 0.23 0.203 0.238419 0.2783 0.3095 0.3213 0.0499 0.32 0.25 0.31 0.29 0.07 0.2762 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.172244 NA NA 0.30363 0.082198 NA 0.341 NA 4.8085366 1171 3 125475201 125475201 C T intergenic OSBPL11,MIR548I1 dist=160820;dist=34046 NA NA ncRNA_exonic ENSG00000239432 NA NA NA Score=637;Name=lod=517 NA 3q21.2 NA NA NA NA rs2684960 0.18 0.18 0.137 0.178514 0.1918 0.1379 0.255 0.1997 0.1237 0.18 0.11 0.27 0.21 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590159 NA NA NA NA NA 0.007 NA 4.8082 1171 4 125384323 125384323 C T intergenic LOC285419,ANKRD50 dist=532805;dist=200881 NA NA ncRNA_exonic ENSG00000248565 NA NA NA Score=674;Name=lod=728 NA 4q28.1 NA NA NA NA rs56358767 0.14 0.14 0.137 0.0916534 0.1918 0.1032 0.1614 0.0121 0.0348 0.18 0.14 0.18 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271938 NA NA NA NA NA 0.08 NA 4.8082 1171 17 25999628 25999628 C T intergenic LGALS9,NOS2 dist=23042;dist=84164 NA NA ncRNA_exonic ENSG00000265041 NA NA NA Score=529;Name=lod=188 NA 17q11.2 NA NA NA NA rs7220339 0.25 0.25 0.252 0.249201 0.1918 0.2083 0.1772 0.4138 0.1789 0.2 0.19 0.19 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33533 NA NA NA NA NA 0.304 NA 4.8082 1171 20 30904777 30904777 G A intronic KIF3B NA NA NA intronic ENSG00000101350 NA NA NA NA NA 20q11.21 NA NA Name=23 NA rs2145245 0.3 0.3 0.29 0.286741 0.1918 0.251 0.2695 0.5363 0.0961 0.18 0.26 0.3 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822919 NA NA NA NA NA 0.457 NA 4.8082 1171 12 133294728 133294728 C T intronic PGAM5 NA NA NA intronic ENSG00000176894,ENSG00000247077 NA NA NA NA NA 12q24.33 NA NA Name=6 NA rs11147014 0.19 0.19 0.132 0.149161 0.0517 0.502 0.1902 0.003 0.0542 0.06 0.51 0.19 0.0041 0.1084 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720205 NA NA 0.031774 0.011591 NA 0.051 NA 4.808126 1171 2 220379560 220379560 C G exonic ASIC4 NA synonymous SNV ASIC4:NM_182847:exon1:c.C495G:p.A165A exonic ENSG00000072182 NA synonymous SNV ENSG00000072182:ENST00000347842:exon1:c.C495G:p.A165A,ENSG00000072182:ENST00000358078:exon1:c.C495G:p.A165A NA NA 2q35 NA Name=GATA-2 NA NA rs3731909 0.57 0.57 0.512 0.506989 0.6362 0.7649 0.5634 0.1944 0.4908 0.65 0.75 0.54 0.24 0.5954 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637772 NA NA 0.627006 0.263958 NA 0.587 NA 4.8080606 1171 8 144403485 144403485 G C exonic TOP1MT NA synonymous SNV TOP1MT:NM_001258447:exon8:c.C738G:p.R246R,TOP1MT:NM_052963:exon8:c.C1032G:p.R344R,TOP1MT:NM_001258446:exon9:c.C738G:p.R246R exonic ENSG00000184428 NA synonymous SNV ENSG00000184428:ENST00000329245:exon8:c.C1032G:p.R344R,ENSG00000184428:ENST00000519139:exon8:c.C738G:p.R246R,ENSG00000184428:ENST00000519148:exon8:c.C738G:p.R246R,ENSG00000184428:ENST00000521193:exon9:c.C738G:p.R246R,ENSG00000184428:ENST00000523676:exon9:c.C738G:p.R246R NA NA 8q24.3 NA NA NA NA rs11544482 0.27 0.27 0.251 0.274361 0.3101 0.0774 0.1873 0.4962 0.2025 0.3 0.07 0.2 0.5 0.2691 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456262 NA NA 0.279419 0.47525 ID=COSM1162623;OCCURENCE=1(pancreas) 0.246 NA 4.8080476 1171 17 40705724 40705724 T G intronic HSD17B1 NA NA NA ncRNA_exonic ENSG00000266962 NA NA NA NA NA 17q21.2 NA Name=Pol2,Pol2-4H8 NA NA rs610177 0.52 0.52 0.517 0.574081 0.5258 0.4534 0.5144 0.6672 0.6646 0.53 0.45 0.47 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409028 NA NA NA NA NA 0.645 NA 4.8075333 1171 12 6440009 6440009 T C intronic TNFRSF1A NA NA NA intronic ENSG00000067182 NA NA NA NA Name=Primary biliary cirrhosis,Multiple sclerosis 12p13.31 NA NA NA NA rs1800693 0.32 0.32 0.32 0.29972 0.4254 0.123 0.281 0.3608 0.2832 0.43 0.14 0.32 0.35 0.3621 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.277467 1.277467 NA 0.405116 0.353382 NA 0.304 CLINSIG=other;CLNDBN=Multiple_sclerosis\x2c_susceptibility_to\x2c_5;CLNREVSTAT=single;CLNACC=RCV000030698.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN143709:614810 4.807384 1171 14 69818891 69818891 G A UTR3 GALNT16 NM_001168368:c.*6G>A NA NA UTR3 ENSG00000100626 ENST00000448469:c.*6G>A NA NA Score=472;Name=lod=110 NA 14q24.1 NA NA NA NA rs76571673 0.1 0.1 0.106 0.0916534 0.2117 0.0079 0.0994 0.0197 0.1462 0.21 0.01 0.13 0.02 0.1403 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.654364 2.654364 NA 0.17407 0.056741 NA 0.109 NA 4.8072634 1171 1 100715454 100715454 G A upstream DBT NA NA NA upstream;downstream ENSG00000137992;ENSG00000230287 NA NA NA NA NA 1p21.2 NA Name=GTF2F1_(RAP-74),IRF1,CHD2_(N-1250),TBP,SRF,Oct-2,NF-YB,ELF1_(SC-631),AP-2gamma,NFKB,HEY1,c-Fos,GATA-2,Pol2-4H8,Sin3Ak-20,YY1_(C-20),TAF7_(SQ-8),YY1,Egr-1,Pol2,NRSF,SP1,RFX5_(N-494),GABP,POU2F2,NF-YA,GATA-1,Pol2(b),TAF1 Name=148 NA rs3806235 0.76 0.76 0.722 0.72504 0.8598 0.9216 0.866 0.3222 0.8282 0.85 0.94 0.85 0.36 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305247 NA NA NA NA NA 0.754 NA 4.8068666 1171 7 150648198 150648198 A G exonic KCNH2 NA synonymous SNV KCNH2:NM_001204798:exon4:c.T936C:p.Y312Y,KCNH2:NM_172057:exon4:c.T936C:p.Y312Y,KCNH2:NM_000238:exon8:c.T1956C:p.Y652Y,KCNH2:NM_172056:exon8:c.T1956C:p.Y652Y exonic ENSG00000055118 NA synonymous SNV ENSG00000055118:ENST00000330883:exon4:c.T936C:p.Y312Y,ENSG00000055118:ENST00000392968:exon6:c.T1668C:p.Y556Y,ENSG00000055118:ENST00000262186:exon8:c.T1956C:p.Y652Y,ENSG00000055118:ENST00000430723:exon8:c.T1956C:p.Y652Y Score=621;Name=lod=447 NA 7q36.1 NA NA NA NA rs1137617 0.76 0.76 0.763 0.772165 0.6044 0.8819 0.6383 0.9448 0.6933 0.6 0.88 0.68 0.92 0.6658 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514819 NA NA 0.589767 0.886972 NA 0.761 NA 4.8066996 1171 1 152384759 152384759 A G intronic CRNN NA NA NA ncRNA_intronic ENSG00000227415 NA NA NA NA NA 1q21.3 Score=845;Name=V$ZID_01 NA NA NA rs7521839 0.28 0.28 0.251 0.307907 0.1491 0.4325 0.389 0.2791 0.3241 0.15 0.45 0.31 0.25 0.2226 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026019 NA NA 0.155 0.234907 NA 0.232 NA 4.8066333 1171 3 189884793 189884793 G A intergenic LEPREL1,CLDN1 dist=44567;dist=138697 NA NA ncRNA_exonic ENSG00000238077 NA NA NA Score=619;Name=lod=436 NA 3q28 NA NA NA NA rs73190503 0.13 0.13 0.102 0.105831 0.1938 0.0288 0.2392 0.0499 0.0757 0.2 0.02 0.23 0.06 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253633 NA NA NA NA NA 0.181 NA 4.8062 1171 4 130057995 130057995 T C intergenic C4orf33,NONE dist=24152;dist=NONE NA NA ncRNA_intronic ENSG00000248958 NA NA NA Score=793;Name=lod=2219 NA 4q28.2 NA NA NA NA rs17014246 0.2 0.2 0.172 0.190695 0.1938 0.3095 0.2939 0.0212 0.2209 0.2 0.33 0.25 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580775 NA NA NA NA NA 0.167 NA 4.8062 1171 8 29885635 29885635 A G intergenic MIR3148,MIR548O2 dist=70771;dist=34623 NA NA ncRNA_exonic ENSG00000254013 NA NA NA Score=798;Name=lod=2339 NA 8p12 NA NA NA NA rs10090849 0.24 0.24 0.253 0.239816 0.1938 0.2976 0.1441 0.3374 0.1636 0.2 0.3 0.13 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440195 NA NA NA NA ID=COSN168303;OCCURENCE=1(ovary),1(urinary_tract),1(liver),3(large_intestine) 0.181 NA 4.8062 1171 19 13345657 13345657 C A intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA Name=CTCF_(SC-5916),STAT3,Pol2-4H8,ZNF263,CTCF,Rad21,SMC3_(ab9263) NA NA rs3765012 0.34 0.34 0.327 0.354832 0.1938 0.6935 0.2839 0.2716 0.3344 0.19 0.68 0.27 0.24 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449184 NA NA NA NA NA 0.283 NA 4.8062 1171 8 59548110 59548110 G A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 Score=934;Name=V$NFAT_Q6 NA NA NA rs76597186 0.06 0.06 0.054 0.063099 0.0676 0.0198 0.0562 0.1203 0.0307 0.07 0.02 0.05 0.08 0.0638 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.838333 NA NA 0.062485 0.100318 ID=COSM328231;OCCURENCE=1(pancreas) 0.058 NA 4.806115 1171 7 136849386 136849386 C T upstream LOC349160 NA NA NA ncRNA_intronic ENSG00000234352 NA NA NA NA NA 7q33 NA Name=GABP NA NA rs832960 0.54 0.54 0.566 0.552316 0.3608 0.6825 0.5418 0.6286 0.5194 0.37 0.69 0.49 0.65 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646312 NA NA NA NA NA 0.355 NA 4.8058666 1171 4 89601410 89601410 A T intronic HERC3 NA NA NA intronic ENSG00000138641 NA NA NA NA NA 4q22.1 Score=851;Name=V$S8_01 NA NA NA rs17014449 0.09 0.09 0.088 0.142173 0.0557 0.0159 0.0389 0.2579 0.2781 0.06 0.02 0.05 0.25 0.0886 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850941 NA NA 0.05014 0.224342 NA 0.101 NA 4.80556 1171 5 153717233 153717233 G A intronic GALNT10 NA NA NA ncRNA_exonic ENSG00000253119 NA NA NA Score=363;Name=lod=40 NA 5q33.2 NA NA NA NA rs11167671 0.47 0.47 0.425 0.426518 0.5278 0.624 0.6095 0.0582 0.4867 0.54 0.64 0.55 0.08 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876818 NA NA NA NA NA 0.377 NA 4.8055333 1171 1 59127086 59127086 G A exonic MYSM1 NA synonymous SNV MYSM1:NM_001085487:exon18:c.C2262T:p.L754L exonic ENSG00000162601 NA synonymous SNV ENSG00000162601:ENST00000472487:exon18:c.C2262T:p.L754L NA NA 1p32.1 NA NA NA NA rs7523134 0.26 0.26 0.231 0.247804 0.2843 0.3095 0.2421 0.1339 0.3047 0.28 0.32 0.25 0.15 0.2821 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066286 NA NA 0.294998 0.173203 NA 0.225 NA 4.8052686 1171 1 146524039 146524039 A G intergenic LOC728989,PRKAB2 dist=9440;dist=102646 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=736;Name=lod=1309 NA 1q21.1 NA NA NA NA rs60304320 0.31 0.31 0.283 0.348043 0.1948 0.4395 0.3545 0.3222 0.4417 0.2 0.44 0.32 0.31 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558204 NA NA NA NA NA 0.217 NA 4.8052 1171 4 85552882 85552882 G T intronic CDS1 NA NA NA intronic ENSG00000163624 NA NA NA NA NA 4q21.23 NA NA Name=24 NA rs41282379 0.15 0.15 0.151 0.176917 0.1948 0.1468 0.1239 0.0749 0.365 0.2 0.14 0.15 0.08 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738173 NA NA NA NA NA 0.167 NA 4.8052 1171 22 42206084 42206084 G C intronic CCDC134 NA NA NA intronic ENSG00000100147 NA NA NA NA NA 22q13.2 NA Name=ZNF263 NA NA rs4512 0.16 0.16 0.108 0.156749 0.1948 0.0635 0.4107 0.0159 0.2239 0.19 0.06 0.42 0.02 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395922 NA NA NA NA NA 0.138 NA 4.8052 1172 11 840363 840363 C T UTR3 POLR2L NM_021128:c.*9G>A NA NA UTR3 ENSG00000177700 ENST00000534030:c.*9G>A,ENST00000322028:c.*9G>A NA NA NA NA 11p15.5 NA Name=Pol2 Name=39 NA rs6591 0.42 0.42 0.383 0.358427 0.5308 0.1974 0.6023 0.3797 0.1452 0.53 0.23 0.59 0.36 0.4653 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664215 NA NA 0.532457 0.39537 NA 0.435 NA 4.8047764 1172 3 142133144 142133144 A C intronic XRN1 NA NA NA intronic ENSG00000114127 NA NA NA Score=243;Name=lod=13 NA 3q23 NA NA NA NA rs9813698 0.03 0.03 0.023 0.0279553 0.0666 NA 0.0231 NA 0.0583 0.08 NA 0.02 NA 0.0562 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.097539 3.097539 NA 0.072674 0.014753 NA 0.043 NA 4.804526 1172 2 220330804 220330804 T C UTR3 SPEG NM_001173476:c.*18T>C NA NA UTR3 ENSG00000072195 ENST00000396698:c.*18T>C,ENST00000396695:c.*18T>C,ENST00000396688:c.*18T>C,ENST00000396686:c.*18T>C,ENST00000396689:c.*18T>C NA NA Score=680;Name=lod=770 NA 2q35 Score=945;Name=V$E47_01 NA NA NA rs1567487 0.48 0.48 0.421 0.459665 0.5159 0.6746 0.4971 0.211 0.4898 0.5 0.66 0.5 0.24 0.5079 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.536297 1.536297 NA 0.505063 0.231343 NA 0.326 NA 4.8044704 1172 6 32629737 32629737 C T intronic HLA-DQB1 NA NA NA ncRNA_intronic ENSG00000241287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9273912 0.18 0.18 0.167 0.205072 0.1909 0.2331 0.1484 0.2201 0.2106 0.19 0.14 0.17 0.22 0.181 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.238223 1.238223 NA 0.157053 0.184778 NA 0.167 NA 4.8043803 1172 21 40250766 40250766 G A intergenic ETS2,PSMG1 dist=53888;dist=296606 NA NA ncRNA_exonic ENSG00000205622 NA NA NA NA NA 21q22.2 NA Name=CEBPB,STAT3 Name=27 NA rs1569306 NA NA NA 0.658347 0.5716 0.6657 0.6873 0.5968 0.8027 NA NA NA NA 0.6241 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353395 NA NA NA NA NA 0.616 NA 4.8043 1172 19 9296664 9296664 T C exonic OR7D2 NA synonymous SNV OR7D2:NM_175883:exon1:c.T207C:p.V69V exonic ENSG00000188000 NA synonymous SNV ENSG00000188000:ENST00000344248:exon1:c.T207C:p.V69V NA NA 19p13.2 NA NA NA NA rs56246934 0.23 0.23 0.209 0.226837 0.3012 0.2768 0.2003 0.0787 0.318 0.29 0.28 0.21 0.09 0.2625 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.593219 NA NA 0.298721 0.111439 NA 0.268 NA 4.8042456 1172 6 29912368 29912368 C T exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon5:c.C987T:p.A329A,HLA-A:NM_002116:exon5:c.C987T:p.A329A exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376806:exon5:c.C987T:p.A329A,ENSG00000206503:ENST00000376809:exon5:c.C987T:p.A329A,ENSG00000206503:ENST00000396634:exon7:c.C987T:p.A329A NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs1141891 0.69 0.69 0.66 0.683107 0.6322 0.6885 0.7723 0.7216 0.6145 0.61 0.72 0.73 0.72 0.6497 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.832736 1.832736 NA 0.580562 0.669536 NA 0.261 NA 4.8042046 1172 1 22175031 22175031 G T intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 Score=942;Name=V$FOXJ2_01 NA NA NA rs6426726 0.23 0.23 0.184 0.21905 0.1958 0.1915 0.33 0.2405 0.1636 0.21 0.19 0.32 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162449 NA NA NA NA NA 0.283 NA 4.8042 1172 1 168513067 168513067 C A intronic XCL2 NA NA NA intronic ENSG00000143185 NA NA NA NA NA 1q24.2 Score=810;Name=V$PPARG_03 NA NA NA rs61801330 0.18 0.18 0.191 0.206669 0.1958 0.0298 0.1599 0.3986 0.1738 0.19 0.02 0.17 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357893 NA NA NA NA NA 0.13 NA 4.8042 1172 7 55327599 55327599 A G intergenic EGFR,LANCL2 dist=52568;dist=105542 NA NA ncRNA_exonic ENSG00000230564 NA NA NA Score=751;Name=lod=1510 NA 7p11.2 NA NA NA NA rs7787331 0.32 0.32 0.335 0.350839 0.1958 0.2351 0.1859 0.7239 0.2423 0.19 0.24 0.21 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293157 NA NA NA NA NA 0.37 NA 4.8042 1172 7 808810 808810 C G intronic HEATR2 NA NA NA exonic ENSG00000164818 NA nonsynonymous SNV ENSG00000164818:ENST00000403952:exon1:c.C26G:p.A9G NA NA 7p22.3 NA NA Name=40 NA rs6946758 0.42 0.42 0.408 0.392971 0.4632 0.3532 0.4395 0.3389 0.4018 0.45 0.35 0.43 0.43 0.4447 0.46 0.6 T 0.171 B 0.021 B . . 1.000 P . . 0.37 T -0.917 T 0.000 T 0.056 -0.541 1.543 -0.451 -0.253 -0.400 . -0.541184 NA 0.77 0.455254 0.332192 NA 0.384 NA 4.8035127 1172 6 160479882 160479882 G A intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 Score=1000;Name=V$AML1_01 NA NA NA rs2274849 0.27 0.27 0.271 0.276957 0.1968 0.3373 0.2925 0.3328 0.2106 0.19 0.36 0.29 0.29 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645441 NA NA NA NA NA 0.348 NA 4.8032 1172 15 53229920 53229920 C T intergenic ONECUT1,WDR72 dist=147711;dist=576018 NA NA ncRNA_exonic ENSG00000259612 NA NA NA Score=851;Name=lod=3838 NA 15q21.3 NA NA NA NA rs41520145 0.13 0.13 0.131 0.11861 0.1968 0.0248 0.17 0.1021 0.1207 0.2 0.03 0.2 0.09 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254576 NA NA NA NA NA 0.152 NA 4.8032 1172 1 157767519 157767519 C T intronic FCRL1 NA NA NA intronic ENSG00000163534 NA NA NA NA NA 1q23.1 Score=739;Name=V$PPARA_01 NA NA NA rs41273453 0.03 0.03 0.027 0.0225639 0.0577 NA 0.0548 0.0038 0.0123 0.06 NA 0.06 0.0041 0.0697 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161351 NA NA 0.069453 0.013006 NA 0.022 NA 4.803147 1172 2 173686663 173686663 G T UTR5 RAPGEF4 NM_001100397:c.-30G>T NA NA UTR5 ENSG00000091428 ENST00000397087:c.-30G>T NA NA Score=251;Name=lod=14 NA 2q31.1 NA NA Name=39 NA rs2258180 0.53 0.53 0.501 0.526957 0.4891 0.5913 0.5115 0.5045 0.5409 0.5 0.61 0.49 0.51 0.5368 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129219 NA NA 0.504718 0.53808 NA 0.536 NA 4.8027154 1172 19 8468337 8468337 C T exonic RAB11B NA synonymous SNV RAB11B:NM_004218:exon5:c.C552T:p.R184R exonic ENSG00000185236 NA synonymous SNV ENSG00000185236:ENST00000328024:exon5:c.C552T:p.R184R NA NA 19p13.2 NA NA NA NA rs2230876 0.33 0.33 0.328 0.330072 0.2873 0.5188 0.219 0.2632 0.3487 0.28 0.51 0.25 0.25 0.2898 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930668 NA NA 0.286977 0.250567 NA 0.138 NA 4.8025896 1172 1 209405753 209405753 G A intergenic PLXNA2,MIR205HG dist=988088;dist=196415 NA NA ncRNA_exonic ENSG00000224540 NA NA NA Score=711;Name=lod=1029 NA 1q32.2 NA NA NA NA rs2800919 0.12 0.12 0.11 0.115615 0.1978 0.0615 0.1816 0.0166 0.1738 0.2 0.06 0.17 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386031 NA NA NA NA NA 0.072 NA 4.8022 1172 6 46172802 46172802 A G intergenic ENPP5,RCAN2 dist=34085;dist=15665 NA NA ncRNA_exonic ENSG00000229349 NA NA NA Score=869;Name=lod=4523 NA 6p21.1 NA NA NA NA rs6903812 0.24 0.24 0.241 0.270567 0.1978 0.1974 0.2233 0.4539 0.2065 0.18 0.19 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314956 NA NA NA NA NA 0.319 NA 4.8022 1172 11 88142353 88142353 A G intergenic CTSC,GRM5 dist=71412;dist=95391 NA NA ncRNA_exonic ENSG00000249489 NA NA NA Score=714;Name=lod=1064 NA 11q14.2 NA NA NA NA rs16924538 0.22 0.22 0.208 0.251198 0.1978 0.3363 0.2565 0.1452 0.3579 0.21 0.28 0.25 0.16 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083176 NA NA NA NA NA 0.268 NA 4.8022 1172 19 54161331 54161331 G T intergenic DPRX,MIR512-2 dist=21068;dist=8596 NA NA ncRNA_exonic ENSG00000270347 NA NA NA NA NA 19q13.42 NA NA Name=10 NA rs8103535 0.18 0.18 0.161 0.189097 0.1978 0.0208 0.2046 0.295 0.1994 0.21 0.01 0.19 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956816 NA NA NA NA NA 0.217 NA 4.8022 1172 20 18763405 18763405 A T intergenic DTD1,LINC00652 dist=18845;dist=5210 NA NA ncRNA_exonic ENSG00000233324 NA NA NA Score=691;Name=lod=859 NA 20p11.23 NA NA NA NA rs6081370 0.16 0.16 0.172 0.223043 0.1978 0.0615 0.147 0.3283 0.3272 0.19 0.05 0.12 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334964 NA NA NA NA NA 0.13 NA 4.8022 1172 20 18763898 18763898 C A intergenic DTD1,LINC00652 dist=19338;dist=4717 NA NA ncRNA_exonic ENSG00000233324 NA NA NA Score=516;Name=lod=166 NA 20p11.23 NA NA NA NA rs16979644 0.16 0.16 0.159 0.220447 0.1978 0.0615 0.147 0.3275 0.3149 0.19 0.05 0.12 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465374 NA NA NA NA NA 0.13 NA 4.8022 1172 17 61908271 61908271 C T exonic PSMC5 NA synonymous SNV PSMC5:NM_001199163:exon7:c.C631T:p.L211L,PSMC5:NM_002805:exon7:c.C655T:p.L219L exonic ENSG00000087191 NA synonymous SNV ENSG00000087191:ENST00000579708:exon5:c.C424T:p.L142L,ENSG00000087191:ENST00000581882:exon6:c.C631T:p.L211L,ENSG00000087191:ENST00000582130:exon6:c.C598T:p.L200L,ENSG00000087191:ENST00000310144:exon7:c.C655T:p.L219L,ENSG00000087191:ENST00000375812:exon7:c.C631T:p.L211L,ENSG00000087191:ENST00000584320:exon7:c.C631T:p.L211L,ENSG00000087191:ENST00000580864:exon8:c.C631T:p.L211L,ENSG00000087191:ENST00000581842:exon8:c.C631T:p.L211L,ENSG00000087191:ENST00000585123:exon8:c.C631T:p.L211L Score=603;Name=lod=377 NA 17q23.3 NA NA NA NA rs968719 0.68 0.68 0.691 0.732628 0.5984 0.5556 0.6816 0.9788 0.7566 0.6 0.58 0.64 0.97 0.6598 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72089 NA NA 0.606395 0.91103 NA 0.681 NA 4.8020716 1172 11 89391841 89391841 C T upstream FOLH1B NA NA NA ncRNA_exonic ENSG00000134612 NA NA NA Score=562;Name=lod=256 NA 11q14.3 NA NA NA NA rs11018713 0.22 0.22 0.123 0.207468 0.3648 0.0873 0.2277 0.1346 0.2536 0.34 0.09 0.27 0.15 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.179886 2.179886 NA NA NA NA 0.159 NA 4.8018666 1172 6 157720414 157720414 C G intronic TMEM242 NA NA NA ncRNA_exonic ENSG00000217783 NA NA NA Score=340;Name=lod=32 NA 6q25.3 NA NA NA NA rs4401691 0.73 0.73 0.741 0.770567 0.5318 0.9544 0.7219 0.8026 0.818 0.53 0.96 0.69 0.79 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386739 NA NA NA NA NA 0.645 NA 4.8015333 1172 9 73255432 73255432 G C intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA Score=295;Name=lod=21 NA 9q21.12 NA Name=CTCF_(SC-5916),SMC3_(ab9263),CTCF Name=126 NA rs1538669 0.63 0.63 0.61 0.595248 0.7425 0.6845 0.6801 0.3192 0.6646 0.73 0.7 0.72 0.34 0.7083 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054437 NA NA 0.747848 0.38238 NA 0.594 NA 4.801352 1172 10 27475444 27475444 T C exonic MASTL NA synonymous SNV MASTL:NM_001172304:exon11:c.T2502C:p.T834T,MASTL:NM_001172303:exon12:c.T2619C:p.T873T,MASTL:NM_032844:exon12:c.T2616C:p.T872T exonic ENSG00000120539 NA synonymous SNV ENSG00000120539:ENST00000342386:exon11:c.T2502C:p.T834T,ENSG00000120539:ENST00000375940:exon12:c.T2619C:p.T873T,ENSG00000120539:ENST00000375946:exon12:c.T2616C:p.T872T NA NA 10p12.1 Score=916;Name=V$LMO2COM_02 NA NA NA rs10741130 0.52 0.52 0.509 0.510982 0.6103 0.4563 0.5231 0.5295 0.4315 0.6 0.41 0.55 0.52 0.5971 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588614 NA NA 0.658023 0.561961 NA 0.514 NA 4.8012436 1172 5 31538249 31538249 C T intronic C5orf22 NA NA NA intronic ENSG00000082213 NA NA NA NA NA 5p13.3 NA NA Name=36 NA rs10071110 0.19 0.19 0.173 0.194089 0.1988 0.0903 0.2363 0.267 0.1677 0.2 0.06 0.26 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380358 NA NA NA NA NA 0.152 NA 4.8012 1172 6 138028152 138028152 C T intergenic OLIG3,LOC100130476 dist=212621;dist=116655 NA NA ncRNA_exonic ENSG00000220412 NA NA NA Score=787;Name=lod=2101 NA 6q23.3 NA NA NA NA rs633010 0.25 0.25 0.239 0.223043 0.1988 0.4325 0.1556 0.1543 0.1728 0.21 0.43 0.14 0.16 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334826 NA NA NA NA NA 0.167 NA 4.8012 1172 15 79852478 79852478 C A intergenic KIAA1024,MTHFS dist=87836;dist=283411 NA NA ncRNA_exonic ENSG00000259493 NA NA NA Score=794;Name=lod=2243 NA 15q25.1 NA NA NA NA rs1765255 0.21 0.21 0.198 0.243211 0.1988 0.1726 0.2896 0.2269 0.3507 0.2 0.17 0.28 0.24 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040112 NA NA NA NA NA 0.239 NA 4.8012 1172 22 16341116 16341116 C T intergenic POTEH,OR11H1 dist=53179;dist=107708 NA NA ncRNA_exonic ENSG00000234381 NA NA NA Score=604;Name=lod=380 NA 22q11.1 NA NA NA NA rs715491 0.15 0.15 0.11 0.188698 0.1988 0.0179 0.2219 0.3048 0.1738 0.17 0.02 0.17 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106989 NA NA NA NA NA NA NA 4.8012 1172 1 112191191 112191191 T A intronic RAP1A NA NA NA ncRNA_exonic ENSG00000215867 NA NA NA Score=259;Name=lod=15 NA 1p13.2 NA NA NA NA rs4083915 0.55 0.55 0.533 0.560503 0.5328 0.5625 0.5562 0.6135 0.5184 0.55 0.56 0.51 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275517 NA NA NA NA NA 0.5 NA 4.8005333 1172 1 116534852 116534852 C T exonic SLC22A15 NA synonymous SNV SLC22A15:NM_018420:exon2:c.C288T:p.S96S exonic ENSG00000163393 NA synonymous SNV ENSG00000163393:ENST00000369502:exon2:c.C288T:p.S96S,ENSG00000163393:ENST00000369503:exon2:c.C288T:p.S96S Score=483;Name=lod=122 NA 1p13.1 NA NA NA NA rs4046190 0.45 0.45 0.432 0.435304 0.6441 0.4196 0.4827 0.1362 0.6074 0.63 0.45 0.5 0.14 0.5994 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600138 NA NA 0.622874 0.201894 NA 0.543 NA 4.8002926 1172 17 39471929 39471929 G A UTR5 KRTAP17-1 NM_031964:c.-27C>T NA NA UTR5 ENSG00000186860 ENST00000334202:c.-27C>T NA NA Score=304;Name=lod=23 NA 17q21.2 NA NA NA NA rs12449671 0.2 0.2 0.194 0.188299 0.1809 0.3175 0.1354 0.1354 0.1718 0.18 0.31 0.14 0.14 0.1753 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455664 NA NA 0.176881 0.12124 NA 0.145 NA 4.8002524 1172 3 148863395 148863395 T G intronic HPS3 NA NA NA intronic ENSG00000163755 NA NA NA NA NA 3q24 NA NA Name=4 NA rs11715291 0.25 0.25 0.243 0.277756 0.1998 0.1706 0.2363 0.4546 0.2587 0.2 0.15 0.24 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1273 NA NA NA NA NA 0.297 NA 4.8002 1172 10 3160913 3160913 G A intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA Name=Pol2 NA NA rs3829912 0.27 0.27 0.263 0.243011 0.1998 0.3849 0.2046 0.2693 0.1329 0.2 0.4 0.23 0.26 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436232 NA NA NA NA NA 0.217 NA 4.8002 1172 14 51171922 51171922 G A intergenic SAV1,NIN dist=36851;dist=14559 NA NA ncRNA_exonic ENSG00000258491 NA NA NA Score=727;Name=lod=1199 NA 14q22.1 NA NA NA NA rs72681673 0.21 0.21 NA 0.204872 0.1998 0.1478 0.1614 0.3071 0.1616 0.2 0.16 0.21 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571492 NA NA NA NA NA 0.283 NA 4.8002 1172 17 3422077 3422077 G A exonic TRPV3 NA synonymous SNV TRPV3:NM_001258205:exon15:c.C1878T:p.S626S,TRPV3:NM_145068:exon15:c.C1878T:p.S626S exonic ENSG00000167723 NA synonymous SNV ENSG00000167723:ENST00000301365:exon15:c.C1878T:p.S626S,ENSG00000167723:ENST00000572519:exon15:c.C1878T:p.S626S,ENSG00000167723:ENST00000576742:exon15:c.C1878T:p.S626S NA NA 17p13.2 NA NA NA NA rs12946883 0.29 0.29 0.296 0.327676 0.2873 0.3333 0.2478 0.3427 0.3998 0.26 0.32 0.26 0.34 0.3045 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.117394 2.117394 NA 0.275 0.339537 ID=COSM148151;OCCURENCE=1(stomach) 0.413 NA 4.7998666 1172 6 47654742 47654742 A T exonic GPR111 NA synonymous SNV GPR111:NM_153839:exon8:c.A1878T:p.L626L exonic ENSG00000164393 NA synonymous SNV ENSG00000164393:ENST00000398742:exon6:c.A1878T:p.L626L,ENSG00000164393:ENST00000467205:exon8:c.A1878T:p.L626L Score=546;Name=lod=220 NA 6p12.3 NA NA NA NA rs9296573 0.48 0.48 0.482 0.517173 0.6262 0.3085 0.4337 0.4637 0.7515 0.62 0.3 0.49 0.47 0.5944 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046955 NA NA 0.646252 0.465959 NA 0.42 NA 4.7998146 1172 12 31135478 31135478 T C exonic TSPAN11 NA synonymous SNV TSPAN11:NM_001080509:exon6:c.T468C:p.C156C exonic ENSG00000110900 NA synonymous SNV ENSG00000110900:ENST00000535215:exon5:c.T255C:p.C85C,ENSG00000110900:ENST00000544427:exon5:c.T438C:p.C146C,ENSG00000110900:ENST00000261177:exon6:c.T468C:p.C156C,ENSG00000110900:ENST00000546076:exon6:c.T468C:p.C156C Score=501;Name=lod=145 NA 12p11.21 NA NA Name=6 NA rs35089 0.95 0.95 0.948 0.951478 0.9523 0.9673 0.9481 0.9425 0.9489 0.95 0.97 0.94 0.93 0.9573 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397652 NA NA 0.957296 0.944369 ID=COSM431013;OCCURENCE=1(breast) 0.942 NA 4.7997706 1172 14 75130235 75130235 T G UTR3 AREL1 NM_001039479:c.*188A>C NA NA UTR3 ENSG00000119682 ENST00000554070:c.*188A>C,ENST00000356357:c.*188A>C,ENST00000555330:c.*1035A>C NA NA NA NA 14q24.3 Score=1000;Name=V$AML1_01 NA NA NA rs1045430 0.39 0.39 0.38 0.341454 0.5338 0.5387 0.4265 0.0257 0.3067 0.54 0.5 0.41 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.797863 1.797863 NA NA NA NA 0.471 NA 4.7995334 1172 1 20853195 20853195 C A intergenic MUL1,FAM43B dist=18521;dist=25737 NA NA ncRNA_exonic ENSG00000215520 NA NA NA Score=500;Name=lod=143 NA 1p36.12 NA NA NA NA rs476622 0.11 0.11 0.1 0.0824681 0.2008 0.001 0.1052 0.0666 0.0501 0.2 NA 0.13 0.07 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479404 NA NA NA NA NA 0.145 NA 4.7992 1172 1 232581667 232581667 G T intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA NA Name=16 NA rs12723697 0.12 0.12 0.116 0.106629 0.2008 0.002 0.1671 0.0908 0.0961 0.18 NA 0.17 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930901 NA NA NA NA NA 0.181 NA 4.7992 1172 2 17566856 17566856 C T intergenic FAM49A,RAD51AP2 dist=719722;dist=125130 NA NA ncRNA_exonic ENSG00000236348 NA NA NA Score=845;Name=lod=3616 NA 2p24.2 NA NA NA NA rs11688807 0.09 0.09 0.088 0.105631 0.2008 0.0139 0.0879 0.0166 0.2352 0.18 0.01 0.1 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427679 NA NA NA NA NA 0.13 NA 4.7992 1172 2 17567398 17567398 C T intergenic FAM49A,RAD51AP2 dist=720264;dist=124588 NA NA ncRNA_exonic ENSG00000236348 NA NA NA Score=845;Name=lod=3616 NA 2p24.2 NA NA NA NA rs6746827 0.1 0.1 0.107 0.119808 0.2008 0.0139 0.0893 0.0696 0.2352 0.18 0.01 0.1 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244832 NA NA NA NA NA 0.13 NA 4.7992 1172 6 166478324 166478324 G A intergenic LINC00602,T dist=75221;dist=92822 NA NA ncRNA_exonic ENSG00000216624 NA NA NA Score=815;Name=lod=2724 NA 6q27 NA NA NA NA rs12192461 0.14 0.14 0.116 0.133986 0.2008 0.0685 0.1916 0.0741 0.1728 0.21 0.07 0.19 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351998 NA NA NA NA NA 0.138 NA 4.7992 1172 11 59259846 59259846 C T intergenic OR4D10,OR4D11 dist=14008;dist=11203 NA NA ncRNA_exonic ENSG00000204989 NA NA NA Score=440;Name=lod=82 NA 11q12.1 NA NA NA NA rs3862659 0.19 0.19 0.163 0.175719 0.2008 0.2351 0.33 0.0098 0.2035 0.2 0.27 0.28 0.01 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640041 NA NA NA NA NA 0.138 NA 4.7992 1172 15 96985552 96985552 G A intergenic NR2F2,SPATA8 dist=102060;dist=341127 NA NA ncRNA_intronic ENSG00000259312 NA NA NA NA NA 15q26.2 NA NA Name=2 NA rs34176157 0.36 0.36 0.335 0.398363 0.2008 0.4891 0.3905 0.5439 0.317 0.19 0.48 0.35 0.47 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027443 NA NA NA NA NA 0.312 NA 4.7992 1172 21 22664619 22664619 T A intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA Name=p300 NA NA rs60892739 0.18 0.18 0.158 0.183706 0.2008 0.0764 0.1729 0.2776 0.1575 0.2 0.08 0.19 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325034 NA NA NA NA ID=COSN166623;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.167 NA 4.7992 1172 22 38307909 38307909 T C intronic MICALL1 NA NA NA intronic ENSG00000100139 NA NA NA NA NA 22q13.1 NA Name=ZNF263 Name=6 NA rs6519091 0.37 0.37 0.349 0.362819 0.4115 0.1766 0.379 0.4478 0.3783 0.42 0.18 0.41 0.47 0.3881 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410699 NA NA 0.401977 0.424648 NA 0.384 NA 4.798423 1172 19 2396556 2396556 C T exonic TMPRSS9 NA synonymous SNV TMPRSS9:NM_182973:exon2:c.C162T:p.G54G exonic ENSG00000178297 NA synonymous SNV ENSG00000178297:ENST00000332578:exon2:c.C162T:p.G54G NA NA 19p13.3 NA NA NA NA rs7252886 0.41 0.41 0.398 0.430711 0.2306 0.504 0.464 0.5696 0.3497 0.24 0.53 0.41 0.54 0.3909 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722026 NA NA 0.24686 0.528824 NA 0.435 NA 4.7983066 1172 1 146522686 146522686 C T intergenic LOC728989,PRKAB2 dist=8087;dist=103999 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=638;Name=lod=523 NA 1q21.1 NA NA NA NA rs522558 0.3 0.3 0.268 0.337061 0.2018 0.3909 0.4049 0.2943 0.4305 0.2 0.38 0.36 0.29 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447833 NA NA NA NA NA 0.217 NA 4.7982 1172 2 198244598 198244598 G A intergenic ANKRD44,SF3B1 dist=69077;dist=12100 NA NA ncRNA_exonic ENSG00000213104 NA NA NA Score=496;Name=lod=138 NA 2q33.1 NA NA NA NA rs7603828 0.16 0.16 0.161 0.123203 0.2018 0.2143 0.17 0.0083 0.0706 0.19 0.23 0.18 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393706 NA NA NA NA NA 0.058 NA 4.7982 1172 3 1637916 1637916 G A intergenic CNTN6,CNTN4 dist=192638;dist=502634 NA NA ncRNA_exonic ENSG00000184423 NA NA NA Score=747;Name=lod=1442 NA 3p26.3 NA NA NA NA rs12497384 0.1 0.1 0.089 0.0838658 0.2018 NA 0.147 0.0492 0.0511 0.19 NA 0.16 0.05 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12548 NA NA NA NA NA 0.138 NA 4.7982 1172 3 9839182 9839182 T C intronic ARPC4,ARPC4-TTLL3 NA NA NA intronic ENSG00000241553,ENSG00000250151 NA NA NA NA NA 3p25.3 NA NA Name=11 NA rs4686371 0.3 0.3 0.285 0.298522 0.2018 0.5278 0.2939 0.171 0.3374 0.2 0.52 0.3 0.18 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66395 NA NA NA NA NA 0.261 NA 4.7982 1172 11 58605673 58605673 T C intronic GLYATL2 NA NA NA intronic ENSG00000156689 NA NA NA NA NA 11q12.1 NA Name=PU.1 NA NA rs11229655 0.31 0.31 0.279 0.336262 0.2018 0.4841 0.3242 0.2958 0.3855 0.23 0.46 0.27 0.28 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54288 NA NA NA NA ID=COSN163961;OCCURENCE=1(NS) 0.261 NA 4.7982 1172 1 9416346 9416346 C T exonic SPSB1 NA synonymous SNV SPSB1:NM_025106:exon2:c.C396T:p.L132L exonic ENSG00000171621 NA synonymous SNV ENSG00000171621:ENST00000377399:exon1:c.C396T:p.L132L,ENSG00000171621:ENST00000328089:exon2:c.C396T:p.L132L,ENSG00000171621:ENST00000357898:exon2:c.C396T:p.L132L,ENSG00000171621:ENST00000450402:exon2:c.C396T:p.L132L NA NA 1p36.22 NA NA NA NA rs3795309 0.24 0.24 0.221 0.197085 0.3161 0.2798 0.1758 0.0651 0.183 0.33 0.28 0.2 0.07 0.2535 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214669 NA NA 0.298953 0.096686 NA 0.188 NA 4.7981136 1172 9 33625185 33625185 C T ncRNA_exonic ANXA2P2 NA NA NA ncRNA_exonic ENSG00000231991 NA NA NA Score=667;Name=lod=687 NA 9p13.3 NA NA NA NA rs36079164 0.4 0.4 0.324 0.385783 0.4443 0.5268 0.4611 0.0855 0.5327 0.46 0.53 0.48 0.09 0.4243 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.697737 2.697737 NA NA NA NA 0.275 NA 4.7980666 1172 10 18816633 18816633 C T intronic CACNB2 NA NA NA ncRNA_intronic ENSG00000240291 NA NA NA NA NA 10p12.31 NA NA Name=21 NA rs4314963 0.22 0.22 0.199 0.239417 0.16 0.251 0.3372 0.1891 0.3078 0.18 0.27 0.31 0.16 0.215 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38145 NA NA 0.160349 0.204267 ID=COSM146898;OCCURENCE=1(stomach) 0.152 NA 4.7979843 1172 17 45695832 45695832 C T intronic NPEPPS NA NA NA ncRNA_intronic ENSG00000263766 NA NA NA NA NA 17q21.32 NA Name=CTCF Name=42 NA rs3760370 0.48 0.48 0.477 0.457468 0.5249 0.5565 0.5634 0.2284 0.5204 0.53 0.54 0.52 0.3 0.5088 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210079 NA NA 0.502192 0.289013 NA 0.486 NA 4.7974413 1172 2 220549123 220549123 A C intergenic SLC4A3,MIR4268 dist=42421;dist=222100 NA NA ncRNA_exonic ENSG00000231802 NA NA NA Score=618;Name=lod=434 NA 2q35 NA NA NA NA rs34364745 0.15 0.15 0.113 0.147165 0.2028 0.0377 0.2248 0.1604 0.1299 0.2 0.04 0.2 0.16 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605058 NA NA NA NA NA 0.109 NA 4.7972 1172 3 133661352 133661352 G T intronic SLCO2A1 NA NA NA intronic ENSG00000174640 NA NA NA NA NA 3q22.1 NA NA Name=10 NA rs3923834 0.2 0.2 0.162 0.182708 0.2028 0.2897 0.2133 0.0333 0.2321 0.22 0.27 0.22 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149619 NA NA NA NA NA 0.109 NA 4.7972 1172 9 30773722 30773722 T C intergenic LOC401497,ACO1 dist=365270;dist=1610879 NA NA ncRNA_exonic ENSG00000235626 NA NA NA Score=524;Name=lod=179 NA 9p21.1 NA NA NA NA rs300541 0.27 0.27 0.242 0.280152 0.2028 0.3294 0.2363 0.3533 0.2413 0.21 0.34 0.23 0.31 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072711 NA NA NA NA NA 0.225 NA 4.7972 1172 13 79484248 79484248 C G intergenic LINC00331,RBM26 dist=70063;dist=409852 NA NA ncRNA_exonic ENSG00000230584 NA NA NA Score=851;Name=lod=3844 NA 13q31.1 NA NA NA NA rs9318597 0.13 0.13 0.11 0.118011 0.2028 0.0734 0.1398 0.0893 0.1002 0.2 0.06 0.15 0.09 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908338 NA NA NA NA NA 0.065 NA 4.7972 1172 13 113833221 113833221 A G intronic PCID2 NA NA NA intronic ENSG00000126226 NA NA NA NA NA 13q34 NA NA Name=17 NA rs9549352 0.2 0.2 0.171 0.236022 0.2028 0.3313 0.2536 0.0129 0.4611 0.21 0.31 0.23 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002211 NA NA NA NA NA 0.174 NA 4.7972 1172 13 113851633 113851633 A G intronic PCID2 NA NA NA intronic ENSG00000126226 NA NA NA NA NA 13q34 NA NA Name=7 NA rs9549356 0.2 0.2 0.171 0.235024 0.2028 0.3313 0.2536 0.0113 0.4581 0.21 0.31 0.23 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083097 NA NA NA NA NA 0.174 NA 4.7972 1172 12 51901390 51901390 A G UTR3 SLC4A8 NM_001258401:c.*168A>G,NM_001039960:c.*168A>G NA NA UTR3 ENSG00000050438 ENST00000453097:c.*168A>G NA NA Score=278;Name=lod=18 NA 12q13.13 NA NA NA NA rs7305599 0.5 0.5 0.478 0.514976 0.5368 0.4563 0.4366 0.5552 0.5542 0.53 0.46 0.5 0.5 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265592 NA NA NA NA NA 0.594 NA 4.7965334 1172 6 112528481 112528481 A G intronic LAMA4 NA NA NA intronic ENSG00000112769 NA NA NA NA NA 6q21 NA NA Name=16 NA rs2239849 0.43 0.43 0.456 0.465256 0.2038 0.5863 0.2925 0.739 0.362 0.19 0.58 0.31 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242441 NA NA NA NA NA 0.399 NA 4.7962 1172 8 70855625 70855625 C T intergenic SLCO5A1,PRDM14 dist=108326;dist=108261 NA NA ncRNA_exonic ENSG00000247570 NA NA NA Score=630;Name=lod=483 NA 8q13.3 NA NA NA NA rs59775679 0.16 0.16 0.145 0.173123 0.2038 0.0962 0.219 0.112 0.271 0.18 0.13 0.21 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.322521 2.322521 NA NA NA NA 0.181 NA 4.7962 1172 8 70855638 70855638 T C intergenic SLCO5A1,PRDM14 dist=108339;dist=108248 NA NA ncRNA_exonic ENSG00000247570 NA NA NA Score=630;Name=lod=483 NA 8q13.3 NA NA NA NA rs57729150 0.16 0.16 0.15 0.173123 0.2038 0.0962 0.219 0.112 0.271 0.18 0.13 0.21 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.119179 2.119179 NA NA NA NA 0.181 NA 4.7962 1172 17 29646032 29646032 G A exonic EVI2A NA synonymous SNV EVI2A:NM_001003927:exon3:c.C69T:p.S23S exonic ENSG00000126860 NA synonymous SNV ENSG00000126860:ENST00000247270:exon3:c.C69T:p.S23S NA NA 17q11.2 NA NA Name=8 NA rs1129506 0.6 0.6 0.61 0.591853 0.6372 0.4474 0.4625 0.7156 0.6186 0.65 0.48 0.51 0.72 0.5966 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.437338 NA NA 0.637093 0.722651 NA 0.572 NA 4.7957736 1172 15 75685175 75685175 A C intronic SIN3A NA NA NA intronic ENSG00000169375 NA NA NA NA NA 15q24.2 Score=873;Name=V$FOXJ2_02 NA NA NA rs71401694 0.08 0.08 0.072 0.0688898 0.0676 0.128 0.0605 0.003 0.1043 0.07 0.15 0.07 0.01 0.0721 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539458 NA NA 0.064741 0.010241 NA 0.029 NA 4.795559 1172 9 18718345 18718345 G A intronic ADAMTSL1 NA NA NA ncRNA_exonic ENSG00000236857 NA NA NA Score=749;Name=lod=1470 NA 9p22.1 NA NA NA NA rs4977341 0.56 0.56 0.554 0.57528 0.5378 0.6548 0.6297 0.475 0.6288 0.54 0.63 0.59 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659844 NA NA NA NA NA 0.667 NA 4.7955333 1172 6 25914901 25914901 G A intronic SLC17A2 NA NA NA intronic ENSG00000112337 NA NA NA Score=445;Name=lod=86 NA 6p22.2 Score=902;Name=V$LMO2COM_02 NA NA NA rs2071298 0.43 0.43 0.38 0.40016 0.4026 0.6964 0.4568 0.143 0.3998 0.39 0.71 0.41 0.16 0.4122 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.891977 1.891977 NA 0.389767 0.185656 NA 0.246 NA 4.795433 1172 1 201858887 201858887 C T intronic SHISA4 NA NA NA intronic ENSG00000198892 NA NA NA NA NA 1q32.1 NA Name=TBP NA NA rs7539696 0.19 0.19 0.191 0.210463 0.2048 0.1369 0.1628 0.2451 0.2791 0.2 0.12 0.19 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241075 NA NA NA NA NA 0.225 NA 4.7952 1172 1 242016590 242016590 C T intronic EXO1 NA NA NA intronic ENSG00000174371 NA NA NA NA NA 1q43 NA NA Name=2 NA rs4149867 0.14 0.14 0.134 0.139377 0.2048 0.1458 0.121 0.0121 0.2505 0.2 0.15 0.13 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570973 NA NA NA NA NA 0.101 NA 4.7952 1172 5 29848798 29848798 T A intergenic LSP1P3,CDH6 dist=921378;dist=1344964 NA NA ncRNA_exonic ENSG00000249744 NA NA NA Score=452;Name=lod=92 NA 5p13.3 NA NA NA NA rs16899572 0.29 0.29 0.251 0.302516 0.2048 0.3571 0.3703 0.2035 0.4325 0.21 0.41 0.35 0.23 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33523 NA NA NA NA NA 0.29 NA 4.7952 1172 5 29848809 29848809 T C intergenic LSP1P3,CDH6 dist=921389;dist=1344953 NA NA ncRNA_exonic ENSG00000249744 NA NA NA Score=452;Name=lod=92 NA 5p13.3 NA NA NA NA rs72745293 0.29 0.29 0.239 0.302915 0.2048 0.3542 0.3703 0.2088 0.4305 0.21 0.41 0.35 0.23 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765273 NA NA NA NA NA 0.29 NA 4.7952 1172 10 10216373 10216373 A G intergenic NONE,SFTA1P dist=NONE;dist=610029 NA NA ncRNA_exonic ENSG00000229919 NA NA NA Score=705;Name=lod=979 NA 10p14 NA NA NA NA rs10905673 0.12 0.12 0.103 0.0938498 0.2048 0.0883 0.0735 0.0265 0.091 0.22 0.1 0.08 0.04 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240423 NA NA NA NA NA 0.123 NA 4.7952 1172 12 112915434 112915434 C T intronic PTPN11 NA NA NA intronic ENSG00000179295 NA NA NA NA NA 12q24.13 NA NA NA NA rs41279090 0.04 0.04 0.038 0.0365415 0.0716 0.001 0.0663 0.0197 0.0389 0.06 0.0017 0.09 0.03 0.0592 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846292 NA NA 0.07407 0.023604 NA 0.072 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000033512.2;CLNDSDB=.;CLNDSDBID=. 4.79513 1173 7 131849981 131849981 A G intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA Name=2 NA rs17166207 0.14 0.14 0.148 0.172125 0.0606 0.0169 0.0836 0.4675 0.1104 0.05 0.01 0.08 0.46 0.0859 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.588274 1.588274 NA 0.058568 0.384884 NA 0.159 NA 4.794932 1173 5 129015452 129015452 T C intronic ADAMTS19 NA NA NA ncRNA_intronic ENSG00000251680 NA NA NA Score=603;Name=lod=376 NA 5q23.3 Score=915;Name=V$TATA_C NA NA NA rs30645 0.35 0.35 0.306 0.317692 0.5258 0.2361 0.4553 0.0825 0.408 0.54 0.2 0.48 0.13 0.4652 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.607348 1.607348 NA 0.547674 0.155924 NA 0.362 NA 4.7946593 1173 9 991114 991114 A G UTR3 DMRT3 NM_021240:c.*109A>G NA NA UTR3 ENSG00000064218 ENST00000190165:c.*109A>G NA NA Score=614;Name=lod=418 NA 9p24.3 NA NA NA NA rs279877 0.49 0.49 0.482 0.509784 0.5388 0.5724 0.4625 0.3359 0.684 0.53 0.53 0.48 0.38 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.999246 NA NA NA NA NA 0.486 NA 4.7945334 1173 7 55327748 55327748 C T intergenic EGFR,LANCL2 dist=52717;dist=105393 NA NA ncRNA_exonic ENSG00000230564 NA NA NA Score=751;Name=lod=1510 NA 7p11.2 NA NA NA NA rs1525642 0.37 0.37 0.397 0.392372 0.2058 0.5675 0.1801 0.4856 0.4284 0.2 0.58 0.21 0.51 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391489 NA NA NA NA NA 0.261 NA 4.7942 1173 7 56296402 56296402 A G intergenic NUPR1L,LOC650226 dist=112312;dist=194995 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=567;Name=lod=268 NA 7p11.2 NA NA NA NA rs1640563 0.41 0.41 0.408 0.413938 0.2058 0.6111 0.2349 0.5696 0.3415 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474858 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56296553 56296553 G T intergenic NUPR1L,LOC650226 dist=112463;dist=194844 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=567;Name=lod=268 NA 7p11.2 NA NA NA NA rs10235373 0.41 0.41 0.435 0.413738 0.2058 0.6111 0.2349 0.5696 0.3405 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114047 NA NA NA NA NA 0.377 NA 4.7942 1173 7 56296598 56296598 A G intergenic NUPR1L,LOC650226 dist=112508;dist=194799 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=436;Name=lod=79 NA 7p11.2 NA NA NA NA rs1640564 0.41 0.41 0.426 0.413738 0.2058 0.6111 0.2349 0.5696 0.3405 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59855 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56296728 56296728 A G intergenic NUPR1L,LOC650226 dist=112638;dist=194669 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1640565 0.41 0.41 0.427 0.413738 0.2058 0.6111 0.2349 0.5696 0.3405 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760501 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56296746 56296746 T C intergenic NUPR1L,LOC650226 dist=112656;dist=194651 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1621849 0.41 0.41 0.425 0.413738 0.2058 0.6111 0.2349 0.5696 0.3405 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198932 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56296924 56296924 C T intergenic NUPR1L,LOC650226 dist=112834;dist=194473 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1622932 0.41 0.41 0.419 0.413738 0.2058 0.6111 0.2349 0.5696 0.3405 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373985 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56296984 56296984 C T intergenic NUPR1L,LOC650226 dist=112894;dist=194413 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1640566 0.41 0.41 0.432 0.413738 0.2058 0.6111 0.2349 0.5696 0.3405 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364668 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56297387 56297387 C T intergenic NUPR1L,LOC650226 dist=113297;dist=194010 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1640567 0.41 0.41 0.43 0.413738 0.2058 0.6111 0.2349 0.5703 0.3395 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33388 NA NA NA NA NA 0.391 NA 4.7942 1173 7 56297446 56297446 C T intergenic NUPR1L,LOC650226 dist=113356;dist=193951 NA NA ncRNA_exonic ENSG00000227491 NA NA NA Score=796;Name=lod=2297 NA 7p11.2 NA NA NA NA rs1640568 0.41 0.41 0.391 0.413738 0.2058 0.6111 0.2349 0.5703 0.3395 0.22 0.62 0.27 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78358 NA NA NA NA NA 0.362 NA 4.7942 1173 12 53124745 53124745 A G intergenic KRT77,KRT76 dist=27498;dist=37194 NA NA ncRNA_exonic ENSG00000257616 NA NA NA Score=590;Name=lod=333 NA 12q13.13 NA NA NA NA rs10876327 0.21 0.21 0.209 0.23123 0.2058 0.0347 0.3415 0.3911 0.1656 0.21 0.02 0.31 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682758 NA NA NA NA NA 0.254 NA 4.7942 1173 13 21790729 21790729 A G intergenic MRP63,MIPEPP3 dist=37509;dist=81535 NA NA ncRNA_exonic ENSG00000271250 NA NA NA Score=464;Name=lod=103 NA 13q12.11 NA NA NA NA rs4338637 0.21 0.21 0.204 0.235224 0.2058 0.1577 0.1542 0.326 0.2802 0.21 0.17 0.16 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.602411 2.602411 NA NA NA NA 0.29 NA 4.7942 1173 16 21071499 21071499 G A intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA Name=FOXA2_(SC-6554),FOXA1_(C-20) NA NA rs858205 0.29 0.29 0.315 0.264577 0.2058 0.4573 0.2161 0.2685 0.1554 0.2 0.47 0.2 0.3 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38193 NA NA NA NA NA 0.246 NA 4.7942 1173 17 5276531 5276531 A T intronic RABEP1 NA NA NA intronic ENSG00000029725,ENSG00000108559 NA NA NA NA NA 17p13.2 NA Name=CHD2_(N-1250),MEF2C_(SC-13268),GATA3_(SC-268),MEF2A,USF2,TBP,Pbx3 NA NA rs3026097 0.23 0.23 0.257 0.243411 0.2058 0.1429 0.1931 0.4175 0.1861 0.21 0.15 0.19 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367484 NA NA NA NA NA 0.333 NA 4.7942 1173 18 56205481 56205481 G A intronic ALPK2 NA NA NA ncRNA_exonic ENSG00000267257 NA NA NA NA NA 18q21.32 Score=823;Name=V$RSRFC4_01 Name=EBF,Pol2-4H8 NA NA rs9962203 0.44 0.44 0.43 0.403754 0.5726 0.2361 0.4294 0.4297 0.3497 0.59 0.24 0.51 0.38 0.4733 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580146 NA NA 0.493263 0.419886 NA 0.529 NA 4.7941703 1173 15 41860411 41860411 G A intronic TYRO3 NA NA NA intronic ENSG00000092445 NA NA NA NA NA 15q15.1 Score=708;Name=V$NRSF_01 Name=HEY1 NA NA rs7171675 0.31 0.31 0.336 0.332668 0.4245 0.0228 0.2983 0.5083 0.3446 0.42 0.02 0.31 0.48 0.3679 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557 NA NA 0.413488 0.496823 NA 0.435 NA 4.794112 1173 16 80718879 80718879 A G exonic CDYL2 NA synonymous SNV CDYL2:NM_152342:exon2:c.T172C:p.L58L exonic ENSG00000166446 NA synonymous SNV ENSG00000166446:ENST00000299564:exon2:c.T172C:p.L58L,ENSG00000166446:ENST00000562812:exon2:c.T172C:p.L58L,ENSG00000166446:ENST00000563890:exon2:c.T172C:p.L58L,ENSG00000166446:ENST00000566173:exon2:c.T172C:p.L58L Score=432;Name=lod=76 NA 16q23.2 NA NA NA NA rs8049284 0.47 0.47 0.465 0.457468 0.662 0.2867 0.4236 0.4017 0.5225 0.65 0.29 0.48 0.38 0.5514 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975629 NA NA 0.659302 0.463232 NA 0.565 NA 4.7939646 1173 8 125052018 125052018 T C ncRNA_intronic FER1L6-AS1 NA NA NA ncRNA_intronic ENSG00000181171,ENSG00000254249 NA NA NA NA NA 8q24.13 NA Name=GR NA NA rs4389914 0.78 0.78 0.789 0.788938 0.8728 0.6349 0.7349 0.8517 0.8149 0.86 0.65 0.75 0.85 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897883 NA NA NA NA NA 0.891 NA 4.7938666 1173 5 35921266 35921266 G A intronic CAPSL NA NA NA intronic ENSG00000152611 NA NA NA NA NA 5p13.2 NA Name=CTCF,CTCF_(C-20),Rad21,CTCF_(SC-5916),SMC3_(ab9263) Name=19 NA rs3734107 0.31 0.31 0.325 0.304313 0.4135 0.0685 0.2666 0.4728 0.2342 0.42 0.06 0.3 0.43 0.3658 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664542 NA NA 0.42686 0.46414 NA 0.312 NA 4.79384 1173 2 219219183 219219183 T G intergenic PNKD,C2orf62 dist=7667;dist=2396 NA NA ncRNA_exonic ENSG00000230580 NA NA NA Score=747;Name=lod=1446 NA 2q35 NA NA NA NA rs11896513 0.06 0.06 0.048 0.0597045 0.1044 0.0347 0.0533 0.0461 0.0624 0.1 0.03 0.05 0.04 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296004 NA NA 0.101823 0.049855 NA 0.051 NA 4.793777 1173 11 56507880 56507880 T C intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA Score=265;Name=lod=16 NA 11q12.1 NA NA NA NA rs644039 NA NA 0.612 0.645767 0.5398 0.7054 0.6715 0.6513 0.6677 NA NA NA NA NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277047 NA NA NA NA ID=COSN163955;OCCURENCE=1(breast) 0.572 NA 4.7935333 1173 1 28209305 28209305 A G exonic THEMIS2 NA synonymous SNV THEMIS2:NM_001105556:exon4:c.A1470G:p.L490L exonic ENSG00000130775 NA synonymous SNV ENSG00000130775:ENST00000373921:exon4:c.A1470G:p.L490L,ENSG00000130775:ENST00000328928:exon5:c.A1083G:p.L361L NA NA 1p35.3 NA NA NA NA rs3766398 0.47 0.47 0.447 0.472444 0.6322 0.5099 0.5086 0.1445 0.6871 0.63 0.49 0.53 0.17 0.5906 0.65 . . . . . . . . 0.748 P . . . . . . . . . 0.315 5.708 1.89 0.216 -0.261 4.182 0.315067 NA NA 0.650439 0.252642 NA 0.449 NA 4.7934276 1173 8 67365860 67365860 C T intronic ADHFE1 NA NA NA intronic ENSG00000147576 NA NA NA NA NA 8q13.1 NA Name=CTCF NA NA rs7014306 0.14 0.14 0.169 0.136581 0.2068 0.002 0.1542 0.2141 0.0859 0.2 0.0017 0.16 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094962 NA NA NA NA NA 0.159 NA 4.7932 1173 10 13100269 13100269 C A intergenic CCDC3,OPTN dist=56565;dist=41813 NA NA ncRNA_exonic ENSG00000225251 NA NA NA Score=779;Name=lod=1950 NA 10p13 NA NA NA NA rs9787488 0.16 0.16 0.17 0.172125 0.2068 0.2034 0.1859 0.0696 0.2331 0.19 0.21 0.15 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52078 NA NA NA NA NA 0.123 NA 4.7932 1173 15 34532726 34532726 C T intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA Name=6 NA rs60604568 0.2 0.2 0.177 0.207268 0.2068 0.2837 0.2017 0.1256 0.2434 0.22 0.27 0.2 0.11 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531231 NA NA NA NA NA 0.094 NA 4.7932 1173 1 49511248 49511248 G A intronic AGBL4 NA NA NA intronic ENSG00000186094 NA NA NA NA NA 1p33 Score=890;Name=V$CEBP_C NA NA NA rs80256865 0.06 0.06 0.073 0.0477236 0.0755 0.0754 0.0187 0.0197 0.0491 0.08 0.08 0.02 0.04 0.0787 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.087887 2.087887 NA 0.052816 0.01972 NA 0.022 NA 4.792984 1173 9 18718114 18718114 A C intronic ADAMTSL1 NA NA NA ncRNA_exonic ENSG00000236857 NA NA NA Score=749;Name=lod=1470 NA 9p22.1 NA NA NA NA rs4977339 0.56 0.56 0.536 0.575879 0.5408 0.6558 0.6297 0.475 0.6278 0.54 0.63 0.59 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215486 NA NA NA NA NA 0.667 NA 4.7925333 1173 9 18718186 18718186 A G intronic ADAMTSL1 NA NA NA ncRNA_exonic ENSG00000236857 NA NA NA Score=749;Name=lod=1470 NA 9p22.1 NA NA NA NA rs1821376 0.56 0.56 0.548 0.575879 0.5408 0.6558 0.6297 0.475 0.6278 0.54 0.63 0.59 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655902 NA NA NA NA NA 0.667 NA 4.7925333 1173 9 18718280 18718280 A G intronic ADAMTSL1 NA NA NA ncRNA_exonic ENSG00000236857 NA NA NA Score=749;Name=lod=1470 NA 9p22.1 NA NA NA NA rs4977340 0.56 0.56 0.545 0.575879 0.5408 0.6558 0.6297 0.475 0.6278 0.54 0.63 0.59 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329052 NA NA NA NA NA 0.667 NA 4.7925333 1173 19 691025 691025 C T intronic PRSS57 NA NA NA ncRNA_exonic ENSG00000213726 NA NA NA Score=812;Name=lod=2648 NA 19p13.3 NA NA NA NA rs8108922 0.36 0.36 0.349 0.336861 0.5408 0.2351 0.4409 0.143 0.4202 0.54 0.22 0.47 0.17 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.641113 NA NA NA NA NA 0.304 NA 4.7925333 1173 17 76422815 76422815 A G intronic DNAH17 NA NA NA exonic ENSG00000268965 NA nonsynonymous SNV ENSG00000268965:ENST00000600087:exon1:c.A407G:p.H136R NA NA 17q25.3 NA NA NA NA rs72914883 0.13 0.13 0.112 0.13139 0.1809 0.0248 0.1268 0.1702 0.1411 0.18 0.03 0.14 0.17 0.1934 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020091 NA NA NA NA NA 0.188 NA 4.7923667 1173 8 62115211 62115211 G C intergenic LOC100130298,CLVS1 dist=234904;dist=85314 NA NA ncRNA_exonic ENSG00000213881 NA NA NA Score=578;Name=lod=298 NA 8q12.2 NA NA NA NA rs2931327 0.16 0.16 0.115 0.153155 0.2078 0.1389 0.2925 0.0144 0.2004 0.21 0.14 0.31 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181847 NA NA NA NA NA 0.138 NA 4.7922 1173 19 42260569 42260569 G A exonic CEACAM6 NA synonymous SNV CEACAM6:NM_002483:exon2:c.G126A:p.P42P exonic ENSG00000086548,ENSG00000267881 NA synonymous SNV ENSG00000086548:ENST00000199764:exon2:c.G126A:p.P42P,ENSG00000267881:ENST00000435837:exon2:c.G126A:p.P42P NA NA 19q13.2 NA NA NA NA rs1805223 0.25 0.25 0.22 0.255591 0.2873 0.2738 0.2911 0.1399 0.3354 0.29 0.25 0.3 0.16 0.2969 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221677 NA NA 0.29093 0.169088 ID=COSM148642;OCCURENCE=1(stomach) 0.399 NA 4.7915366 1173 19 829743 829743 G A intronic AZU1 NA NA NA intronic ENSG00000172232 NA NA NA Score=547;Name=lod=223 NA 19p13.3 NA NA NA NA rs4807873 0.06 0.06 0.057 0.0676917 0.0706 0.0089 0.0605 0.0779 0.1166 0.06 0.01 0.07 0.09 0.0744 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075956 NA NA 0.063605 0.074671 NA 0.036 NA 4.791395 1173 3 195723680 195723680 C G intergenic SDHAP1,TFRC dist=6530;dist=52475 NA NA ncRNA_exonic ENSG00000231464 NA NA NA Score=738;Name=lod=1327 NA 3q29 NA NA NA NA rs4927701 NA NA 0.427 0.142572 0.2087 0.0585 0.1888 0.1573 0.1084 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076589 NA NA NA NA NA 0.036 NA 4.7913 1173 6 57841623 57841623 A G intergenic PRIM2,GUSBP4 dist=328247;dist=404536 NA NA ncRNA_exonic ENSG00000215307 NA NA NA Score=841;Name=lod=3494 NA 6p11.2 NA NA NA NA rs28547079 0.21 0.21 NA 0.199481 0.2087 0.0823 0.2003 0.3419 0.1176 0.21 0.1 0.22 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671182 NA NA NA NA NA 0.203 NA 4.7913 1173 8 27823868 27823868 G A intronic SCARA5 NA NA NA intronic ENSG00000168079 NA NA NA NA NA 8p21.1 NA Name=Egr-1 NA NA rs2726940 0.17 0.17 0.149 0.152756 0.2087 0.1736 0.1268 0.1452 0.1022 0.19 0.18 0.14 0.13 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449762 NA NA NA NA NA 0.123 NA 4.7913 1173 11 88141789 88141789 A C intergenic CTSC,GRM5 dist=70848;dist=95955 NA NA ncRNA_exonic ENSG00000249489 NA NA NA Score=679;Name=lod=767 NA 11q14.2 NA NA NA NA rs12417118 0.28 0.28 0.272 0.32508 0.2087 0.3383 0.2781 0.3964 0.3681 0.22 0.28 0.27 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405613 NA NA NA NA NA 0.37 NA 4.7913 1173 18 74471817 74471817 C T intergenic LOC284276,LOC100131655 dist=200033;dist=34871 NA NA ncRNA_exonic ENSG00000265626 NA NA NA Score=640;Name=lod=532 NA 18q23 NA NA NA NA rs17651075 0.18 0.18 0.155 0.173522 0.2087 0.1438 0.1729 0.1589 0.1881 0.2 0.15 0.18 0.18 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803243 NA NA NA NA NA 0.123 NA 4.7913 1173 3 46944274 46944274 T C exonic PTH1R NA synonymous SNV PTH1R:NM_001184744:exon14:c.T1389C:p.N463N,PTH1R:NM_000316:exon15:c.T1389C:p.N463N exonic ENSG00000160801 NA synonymous SNV ENSG00000160801:ENST00000422115:exon2:c.T105C:p.N35N,ENSG00000160801:ENST00000313049:exon13:c.T1389C:p.N463N,ENSG00000160801:ENST00000427125:exon14:c.T1389C:p.N463N,ENSG00000160801:ENST00000430002:exon14:c.T1389C:p.N463N,ENSG00000160801:ENST00000418619:exon15:c.T1389C:p.N463N,ENSG00000160801:ENST00000449590:exon15:c.T1389C:p.N463N NA NA 3p21.31 Score=899;Name=V$CEBPA_01 NA NA NA rs1138518 0.64 0.64 0.643 0.643371 0.6431 0.4425 0.6513 0.8215 0.6043 0.64 0.47 0.65 0.83 0.6141 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021368 NA NA 0.618605 0.798911 ID=COSM149372;OCCURENCE=1(stomach) 0.768 NA 4.7908616 1173 1 8859491 8859491 G C intronic RERE NA NA NA ncRNA_exonic ENSG00000226545 NA NA NA Score=609;Name=lod=397 NA 1p36.23 NA NA NA NA rs6690928 0.58 0.58 0.571 0.528754 0.5427 0.8234 0.5764 0.3464 0.4233 0.56 0.83 0.52 0.37 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109823 NA NA NA NA NA 0.558 NA 4.7906333 1173 7 87151090 87151090 T C intronic ABCB1 NA NA NA ncRNA_exonic ENSG00000231956 NA NA NA Score=711;Name=lod=1030 NA 7q21.12 NA NA NA NA rs4148743 0.46 0.46 0.449 0.452276 0.5427 0.2222 0.4928 0.6309 0.3262 0.54 0.19 0.49 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754997 NA NA NA NA NA 0.507 NA 4.7906333 1173 19 41415112 41415112 T A intergenic CYP2G1P,CYP2B7P1 dist=8699;dist=15058 NA NA ncRNA_intronic ENSG00000198251 NA NA NA NA NA 19q13.2 NA Name=CTCF,Rad21,SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916) Name=29 NA rs3844442 0.61 0.61 0.571 0.623802 0.6044 0.5 0.7291 0.6437 0.6697 0.61 0.51 0.71 0.64 0.605 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276031 NA NA NA NA NA 0.565 NA 4.7906 1173 1 229623137 229623137 T C intronic NUP133 NA NA NA intronic ENSG00000069248 NA NA NA NA NA 1q42.13 NA NA Name=3 NA rs4925493 0.27 0.27 0.279 0.285343 0.2097 0.1607 0.3184 0.5166 0.1554 0.21 0.14 0.26 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311102 NA NA NA NA NA 0.275 NA 4.7903 1173 3 124378412 124378412 A G intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA Name=EBF1_(C-8),EBF NA NA rs10755078 0.16 0.16 0.137 0.142572 0.2097 0.2361 0.183 0.0106 0.1268 0.21 0.2 0.17 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640756 NA NA NA NA NA 0.08 NA 4.7903 1173 15 80051085 80051085 C T intergenic KIAA1024,MTHFS dist=286443;dist=84804 NA NA ncRNA_exonic ENSG00000259229 NA NA NA Score=667;Name=lod=686 NA 15q25.1 NA NA NA NA rs282778 0.25 0.25 0.26 0.299321 0.2097 0.2857 0.2133 0.3396 0.4121 0.2 0.27 0.26 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333746 NA NA NA NA NA 0.225 NA 4.7903 1173 18 683441 683441 G A intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA Name=2 NA rs11081266 0.29 0.29 0.316 0.30012 0.2097 0.379 0.2406 0.3283 0.316 0.2 0.4 0.21 0.37 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541741 NA NA NA NA NA 0.312 NA 4.7903 1173 9 130213508 130213508 A G intronic RPL12 NA NA NA intronic ENSG00000197958 NA NA NA NA NA 9q33.3 NA Name=ELF1_(SC-631),p300,WHIP,TAF1,IRF4_(M-17),TAF7_(SQ-8),BCLAF1_(M33-P5B11),Pol2(phosphoS2),TCF4,NELFe,Pol2,BCL3,HEY1,NFKB,c-Myc,Pol2(b),ZNF263,Pol2-4H8,CTCF_(SC-5916) Name=12 NA rs2244624 0.57 0.57 0.509 0.561102 0.6332 0.4107 0.6527 0.6195 0.498 0.64 0.41 0.61 0.62 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.691024 1.691024 NA 0.577247 0.619048 NA 0.457 NA 4.789553 1173 1 201843806 201843806 C G intronic IPO9 NA NA NA intronic ENSG00000198700 NA NA NA NA NA 1q32.1 Score=877;Name=V$SPZ1_01 NA NA NA rs34554059 0.19 0.19 0.179 0.211462 0.2107 0.1379 0.1614 0.2443 0.2791 0.21 0.12 0.19 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.235569 NA NA NA NA NA 0.225 NA 4.7893 1173 2 169020166 169020166 G A intronic STK39 NA NA NA intronic ENSG00000198648 NA NA NA Score=349;Name=lod=35 NA 2q24.3 NA NA NA NA rs2292785 0.36 0.36 0.339 0.38139 0.2107 0.5804 0.3127 0.4418 0.319 0.21 0.57 0.29 0.41 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099044 NA NA NA NA NA 0.326 NA 4.7893 1173 6 85140178 85140178 A C intergenic KIAA1009,TBX18 dist=202843;dist=302038 NA NA ncRNA_exonic ENSG00000226309 NA NA NA Score=765;Name=lod=1708 NA 6q14.3 NA NA NA NA rs3734452 0.35 0.35 0.333 0.314896 0.2107 0.6875 0.3602 0.1868 0.1789 0.21 0.68 0.33 0.21 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151539 NA NA NA NA NA 0.326 NA 4.7893 1173 9 92995363 92995363 T C intergenic LOC286370,LOC340515 dist=191582;dist=229351 NA NA ncRNA_exonic ENSG00000225072 NA NA NA NA NA 9q22.2 NA NA Name=13 NA rs7861446 0.32 0.32 0.32 0.364617 0.2107 0.4474 0.2968 0.4077 0.4274 0.21 0.41 0.29 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607727 NA NA NA NA NA 0.217 NA 4.7893 1173 19 58453342 58453342 T C exonic ZNF256 NA synonymous SNV ZNF256:NM_005773:exon3:c.A834G:p.Q278Q exonic ENSG00000152454 NA synonymous SNV ENSG00000152454:ENST00000282308:exon3:c.A834G:p.Q278Q NA NA 19q13.43 NA NA NA NA rs959231 0.26 0.26 0.258 0.266773 0.3002 0.3145 0.3112 0.1596 0.2965 0.3 0.29 0.29 0.14 0.2808 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.473794 1.473794 NA 0.296395 0.174081 NA 0.29 NA 4.7892716 1173 1 153320372 153320372 T G exonic PGLYRP4 NA nonsynonymous SNV PGLYRP4:NM_020393:exon2:c.A37C:p.I13L exonic ENSG00000163218 NA nonsynonymous SNV ENSG00000163218:ENST00000359650:exon2:c.A37C:p.I13L,ENSG00000163218:ENST00000368739:exon2:c.A37C:p.I13L NA NA 1q21.3 NA NA NA NA rs3006458 0.79 0.79 0.775 0.794129 0.8728 0.7411 0.8588 0.7027 0.8456 0.88 0.71 0.85 0.68 0.8239 0.88 1 T 0.0 B 0.0 B 0.012 N 1.000 P 0 N 3.93 T -0.962 T 0.001 T 0.032 -0.119 3.418 -1.05 -0.484 0.178 2.058 -0.118794 NA 1 0.847558 0.731502 NA 0.688 NA 4.7890754 1173 3 45637439 45637439 T C exonic LIMD1 NA synonymous SNV LIMD1:NM_014240:exon1:c.T1068C:p.G356G exonic ENSG00000144791 NA synonymous SNV ENSG00000144791:ENST00000273317:exon1:c.T1068C:p.G356G,ENSG00000144791:ENST00000440097:exon1:c.T1068C:p.G356G NA NA 3p21.31 NA NA Name=41 NA rs267236 0.71 0.71 0.718 0.735823 0.5915 0.9345 0.6859 0.7194 0.7372 0.58 0.9 0.65 0.73 0.6653 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814181 NA NA 0.621047 0.72424 NA 0.616 NA 4.7888196 1173 11 3913861 3913861 T G intronic STIM1 NA NA NA ncRNA_exonic ENSG00000230593 NA NA NA Score=711;Name=lod=1029 NA 11p15.4 NA NA NA NA rs10458895 0.6 0.6 0.579 0.647963 0.5447 0.6865 0.5836 0.6891 0.7045 0.56 0.68 0.5 0.65 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.49221 1.49221 NA NA NA NA 0.565 NA 4.7886333 1173 7 12511037 12511037 T G intergenic VWDE,SCIN dist=67185;dist=99166 NA NA ncRNA_exonic ENSG00000236048 NA NA NA Score=574;Name=lod=288 NA 7p21.3 NA NA NA NA rs3735182 0.3 0.3 0.267 0.32528 0.2117 0.4762 0.4654 0.1596 0.411 0.21 0.5 0.41 0.14 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964685 NA NA NA NA NA 0.304 NA 4.7883 1173 17 44346039 44346039 A G intergenic KANSL1,LRRC37A dist=43299;dist=26458 NA NA ncRNA_exonic ENSG00000261575 NA NA NA Score=576;Name=lod=293 NA 17q21.31 NA NA NA NA rs2532338 NA NA 0.083 0.0778754 0.2117 0.001 0.1455 0.0129 0.0593 NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613025 NA NA NA NA NA 0.109 NA 4.7883 1173 6 160769423 160769423 G A UTR5 SLC22A3 NM_021977:c.-29G>A NA NA UTR5 ENSG00000146477 ENST00000275300:c.-29G>A NA NA NA NA 6q25.3 NA Name=HA-E2F1,HEY1,Pol2,TAF1 Name=55 NA rs555754 0.44 0.44 0.41 0.430112 0.4761 0.2867 0.4467 0.5507 0.3558 0.48 0.28 0.48 0.51 0.5283 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441386 1.441386 NA 0.541267 0.62188 NA NA NA 4.7876664 1173 7 142045613 142045613 G T intergenic LOC730441,MTRNR2L6 dist=73545;dist=328518 NA NA exonic ENSG00000211745 NA synonymous SNV ENSG00000211745:ENST00000390392:exon2:c.G141T:p.G47G NA NA 7q34 Score=774;Name=V$HEN1_01 NA NA NA rs2010177 NA NA 0.279 0.0131789 NA 0.0099 0.0058 0.0393 NA NA NA NA NA 0.3383 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6462 NA NA 0.374312 0.272384 NA 0.21 NA 4.787388 1173 3 11928282 11928282 G T intergenic TAMM41,SYN2 dist=39930;dist=117580 NA NA ncRNA_exonic ENSG00000230342 NA NA NA Score=561;Name=lod=255 NA 3p25.2 NA NA NA NA rs55818640 0.29 0.29 0.266 0.309305 0.2127 0.4097 0.2565 0.3487 0.2894 0.21 0.4 0.27 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002098 NA NA NA NA NA 0.29 NA 4.7873 1173 3 106567549 106567549 G A intergenic CBLB,LOC100302640 dist=979662;dist=261088 NA NA ncRNA_exonic ENSG00000239997 NA NA NA Score=449;Name=lod=89 NA 3q13.12 NA NA NA NA rs16853011 0.25 0.25 0.241 0.288339 0.2127 0.381 0.1844 0.2428 0.4059 0.22 0.34 0.19 0.23 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405363 NA NA NA NA NA 0.167 NA 4.7873 1173 7 12511312 12511312 G A intergenic VWDE,SCIN dist=67460;dist=98891 NA NA ncRNA_exonic ENSG00000236048 NA NA NA Score=695;Name=lod=890 NA 7p21.3 NA NA NA NA rs11275 0.27 0.27 0.275 0.253395 0.2127 0.2163 0.17 0.4115 0.1789 0.23 0.23 0.2 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218307 NA NA NA NA ID=COSN167975;OCCURENCE=1(large_intestine) 0.246 NA 4.7873 1173 10 108309995 108309995 G A intergenic SORCS3,SORCS1 dist=1285002;dist=23426 NA NA ncRNA_exonic ENSG00000215002 NA NA NA Score=715;Name=lod=1078 NA 10q25.1 NA NA NA NA rs6584755 0.24 0.24 0.228 0.250599 0.2127 0.3313 0.1614 0.1868 0.3558 0.22 0.36 0.19 0.17 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222576 NA NA NA NA NA 0.225 NA 4.7873 1173 14 69259502 69259502 T C intronic ZFP36L1 NA NA NA intronic ENSG00000185650 NA NA NA NA NA 14q24.1 NA Name=Pol2,Pol2-4H8 NA NA rs11851414 0.19 0.19 0.212 0.203075 0.2127 0.0089 0.1513 0.3873 0.181 0.2 0.01 0.15 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515536 NA NA NA NA NA 0.297 NA 4.7873 1173 1 15789861 15789861 T C intronic CELA2A NA NA NA intronic ENSG00000142615 NA NA NA NA NA 1p36.21 NA Name=AP-2alpha NA NA rs7555510 0.08 0.08 0.079 0.0942492 0.0596 0.001 0.0648 0.2421 0.047 0.06 0.0017 0.06 0.21 0.074 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507174 NA NA 0.079186 0.21153 NA 0.138 NA 4.787214 1173 6 26124430 26124430 C T UTR5 HIST1H2AC NM_003512:c.-31C>T NA NA UTR5 ENSG00000180573 ENST00000377791:c.-31C>T,ENST00000314088:c.-31C>T NA NA NA NA 6p22.2 NA Name=BRCA1_(C-1863),Sin3Ak-20,HA-E2F1,YY1_(C-20),BCLAF1_(M33-P5B11),TAF7_(SQ-8),Pol2-4H8,c-Fos,NELFe,Pol2,SP1,NRSF,Mxi1_(bHLH),RFX5_(N-494),STAT3,YY1,Pol2(phosphoS2),Egr-1,E2F4,ZBTB33,Pol2(b),TAF1,GATA-1,ETS1,TBP,GTF2F1_(RAP-74),GATA2_(CG2-96),CEBPB,IRF1,CHD2_(N-1250),p300_(N-15),TCF12,GTF2B,c-Myc,CCNT2,FOXA1_(SC-101058),ELF1_(SC-631),IRF3,NFKB,HEY1,FOXA2_(SC-6554),BCL3 Name=148 NA rs198819 0.39 0.39 0.396 0.390375 0.5258 0.3065 0.4265 0.2995 0.4346 0.54 0.24 0.44 0.3 0.4884 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019708 NA NA 0.532442 0.342488 NA 0.399 NA 4.7866914 1173 3 113569557 113569557 G A intronic GRAMD1C NA NA NA ncRNA_exonic ENSG00000240776 NA NA NA Score=747;Name=lod=1446 NA 3q13.31 NA NA NA NA rs7628746 0.51 0.51 0.462 0.534944 0.5467 0.6617 0.5274 0.3729 0.6166 0.54 0.62 0.52 0.34 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.665 NA NA NA NA NA 0.449 NA 4.7866333 1173 21 45096206 45096206 G A exonic RRP1B NA synonymous SNV RRP1B:NM_015056:exon7:c.G603A:p.A201A exonic ENSG00000160208 NA synonymous SNV ENSG00000160208:ENST00000340648:exon7:c.G603A:p.A201A Score=437;Name=lod=80 NA 21q22.3 NA NA NA NA rs2155722 0.65 0.65 0.629 0.646166 0.6252 0.8353 0.7291 0.4251 0.7127 0.62 0.83 0.69 0.47 0.6519 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508404 NA NA 0.60314 0.468679 ID=COSM149238;OCCURENCE=1(breast),1(stomach) 0.587 NA 4.7864266 1173 1 96912659 96912659 A G intergenic FLJ31662,PTBP2 dist=967747;dist=274516 NA NA ncRNA_exonic ENSG00000228502 NA NA NA Score=869;Name=lod=4517 NA 1p21.3 NA NA NA NA rs10783045 0.2 0.2 0.162 0.176318 0.2137 0.3145 0.1527 0.1014 0.1135 0.22 0.29 0.17 0.09 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.582189 2.582189 NA NA NA NA 0.116 NA 4.7863 1173 1 209781125 209781125 T C intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA Name=STAT3 NA NA rs760833 0.26 0.26 0.242 0.254792 0.2137 0.373 0.2176 0.3268 0.1043 0.21 0.37 0.16 0.3 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.974167 NA NA NA NA NA 0.13 NA 4.7863 1173 7 12511924 12511924 T G intergenic VWDE,SCIN dist=68072;dist=98279 NA NA ncRNA_exonic ENSG00000236048 NA NA NA Score=521;Name=lod=174 NA 7p21.3 NA NA NA NA rs847956 0.26 0.26 0.268 0.253594 0.2137 0.2163 0.17 0.4115 0.1789 0.22 0.22 0.19 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.09053 NA NA NA NA NA 0.246 NA 4.7863 1173 11 123880482 123880482 T G intergenic OR10S1,OR10G4 dist=32084;dist=5800 NA NA ncRNA_exonic ENSG00000226461 NA NA NA Score=349;Name=lod=35 NA 11q24.1 NA NA NA NA rs11601573 0.21 0.21 0.218 0.205272 0.2137 0.1002 0.1513 0.3192 0.1892 0.22 0.13 0.16 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302795 NA 0.01 NA NA ID=COSN164077;OCCURENCE=1(breast) 0.232 NA 4.7863 1173 5 58118851 58118851 T G intronic RAB3C NA NA NA ncRNA_exonic ENSG00000240412 NA NA NA Score=763;Name=lod=1679 NA 5q11.2 NA NA NA NA rs665051 0.37 0.37 0.319 0.355431 0.5477 0.1726 0.4323 0.2216 0.4724 0.55 0.17 0.46 0.24 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039643 NA NA NA NA NA 0.362 NA 4.7856333 1173 19 55046739 55046739 C A ncRNA_intronic KIR3DX1 NA NA NA intronic ENSG00000104970 NA NA NA NA NA 19q13.42 NA NA Name=2 NA rs3745870 0.53 0.53 0.482 0.4998 0.5477 0.7798 0.5576 0.2103 0.5123 0.54 0.79 0.54 0.2 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278974 NA NA NA NA NA 0.471 NA 4.7856333 1173 7 99998607 99998607 G A UTR3 ZCWPW1 NM_017984:c.*30C>T,NM_001258008:c.*191C>T NA NA UTR3 ENSG00000078487 ENST00000398027:c.*30C>T,ENST00000490721:c.*30C>T,ENST00000324725:c.*30C>T,ENST00000360951:c.*191C>T NA NA NA NA 7q22.1 NA Name=CTCF NA NA rs11769886 0.1 0.1 0.078 0.0870607 0.1928 0.0278 0.1052 0.025 0.1104 0.19 0.02 0.1 0.03 0.1613 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295844 NA NA 0.19388 0.053873 NA 0.116 NA 4.7853534 1173 3 195664645 195664645 T C intergenic TNK2,SDHAP1 dist=28765;dist=22147 NA NA ncRNA_exonic ENSG00000231443 NA NA NA Score=731;Name=lod=1241 NA 3q29 NA NA NA NA rs4927703 0.3 0.3 0.3 0.287141 0.2147 0.2173 0.2334 0.4924 0.1943 0.23 0.24 0.26 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087308 NA NA NA NA NA NA NA 4.7853 1173 9 100326217 100326217 C G intronic TMOD1 NA NA NA intronic ENSG00000136842 NA NA NA NA NA 9q22.33 NA Name=USF1_(SC-8983) NA NA rs4743109 0.19 0.19 0.172 0.226837 0.2147 0.249 0.1354 0.112 0.4366 0.22 0.22 0.13 0.15 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.074813 NA NA NA NA NA 0.13 NA 4.7853 1173 10 5690730 5690730 C A intronic ASB13 NA NA NA intronic ENSG00000196372 NA NA NA NA NA 10p15.1 NA Name=ZEB1_(SC-25388),Egr-1 NA NA rs34682277 0.1 0.1 0.072 0.0942492 0.2147 0.0079 0.1268 0.025 0.1299 0.21 0.0017 0.14 0.03 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144634 NA NA NA NA NA 0.188 NA 4.7853 1173 20 47249189 47249189 T C intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA Name=JunD Name=15 NA rs4413212 0.42 0.42 0.41 0.431709 0.3996 0.3611 0.4524 0.4153 0.545 0.39 0.39 0.47 0.44 0.4152 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598622 NA NA 0.400116 0.410123 ID=COSN166553;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.428 NA 4.785084 1174 14 22573636 22573636 T C intergenic OR4E2,DAD1 dist=439398;dist=460171 NA NA exonic ENSG00000211805 NA nonsynonymous SNV ENSG00000211805:ENST00000390453:exon1:c.T17C:p.L6S NA NA 14q11.2 NA NA NA NA rs61746511 0.01 0.01 0.007 0.00539137 0.0219 NA 0.0058 NA 0.001 0.02 NA 0.01 NA 0.0104 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.160013 2.160013 0 0.016094 0.002936 NA NA NA 4.7849394 1174 1 27057621 27057621 A C intronic ARID1A NA NA NA intronic ENSG00000117713 NA NA NA Score=259;Name=lod=15 NA 1p36.11 NA NA NA NA rs41303629 0.04 0.04 0.031 0.0371406 0.0726 0.0248 0.049 0.0053 0.0481 0.07 0.03 0.06 0.01 0.0599 0.083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262067 1.262067 NA 0.08314 0.018384 NA 0.029 NA 4.78436 1174 11 20595814 20595814 G A intergenic PRMT3,SLC6A5 dist=64935;dist=25132 NA NA ncRNA_intronic ENSG00000255291 NA NA NA Score=563;Name=lod=259 NA 11p15.1 NA NA NA NA rs67612906 0.25 0.25 0.221 0.215455 0.2157 0.3284 0.2781 0.1551 0.136 0.21 0.37 0.28 0.15 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268951 NA NA NA NA NA 0.254 NA 4.7843 1174 4 113569135 113569135 G T intronic LARP7 NA NA NA ncRNA_intronic ENSG00000249532 NA NA NA NA NA 4q25 NA Name=Egr-1,Pol2,Pol2-4H8,c-Jun,TAF7_(SQ-8),Sin3Ak-20,YY1_(C-20),JunD,TAF1 Name=12 NA rs13136737 0.39 0.39 0.378 0.375 0.5487 0.3581 0.5331 0.0658 0.5194 0.55 0.38 0.51 0.07 0.4743 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399998 NA NA 0.526382 0.129145 ID=COSN167297;OCCURENCE=1(large_intestine) 0.428 NA 4.7839513 1174 17 46620402 46620402 G A UTR3 HOXB2 NM_002145:c.*28C>T NA NA UTR3 ENSG00000173917 ENST00000330070:c.*28C>T NA NA NA NA 17q21.32 NA NA Name=113 NA rs2229302 0.12 0.12 0.107 0.119209 0.1928 0.0982 0.1326 0.0703 0.1217 0.2 0.06 0.12 0.07 0.1703 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50819 NA NA 0.186555 0.084657 NA 0.152 NA 4.7836784 1174 11 123909073 123909073 C G exonic OR10G7 NA synonymous SNV OR10G7:NM_001004463:exon1:c.G636C:p.L212L exonic ENSG00000182634 NA synonymous SNV ENSG00000182634:ENST00000330487:exon1:c.G636C:p.L212L NA NA 11q24.2 NA NA NA NA rs11219419 0.24 0.24 0.181 0.239816 0.2873 0.3363 0.3026 0.0356 0.3231 0.29 0.32 0.26 0.04 0.2873 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.962212 NA NA 0.308444 0.086364 NA 0.275 NA 4.7836226 1174 6 112677375 112677375 C A intergenic RFPL4B,MARCKS dist=4877;dist=1501152 NA NA ncRNA_exonic ENSG00000219773 NA NA NA Score=799;Name=lod=2363 NA 6q21 NA NA NA NA rs11753554 0.23 0.23 0.224 0.215056 0.2167 0.1915 0.3228 0.1921 0.1922 0.21 0.22 0.29 0.23 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146885 NA NA NA NA NA 0.232 NA 4.7833 1174 X 35971684 35971684 A G intronic CXorf22 NA NA NA intronic ENSG00000165164 NA NA NA Score=289;Name=lod=20 NA Xp21.1 NA NA NA NA rs6629023 0.26 0.26 0.25119 NA NA NA NA NA NA 0.08 0.32 0.28 0.45 0.1607 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372405 1.372405 NA 0.056217 0.393947 NA 0.159 NA 4.783083 1174 5 79595396 79595396 T C ncRNA_exonic LOC644936 NA NA NA downstream ENSG00000184188 NA NA NA Score=859;Name=lod=4113 NA 5q14.1 NA NA NA NA rs4704659 NA NA NA 0.429912 0.3837 0.4375 0.3977 0.4939 0.4059 NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025005 NA NA NA NA NA 0.348 NA 4.7829666 1174 9 92979054 92979054 C A intergenic LOC286370,LOC340515 dist=175273;dist=245660 NA NA ncRNA_exonic ENSG00000185074 NA NA NA Score=346;Name=lod=34 NA 9q22.2 NA NA NA NA rs10992530 0.22 0.22 0.216 0.235623 0.2177 0.1399 0.1787 0.3812 0.1963 0.22 0.12 0.18 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689928 NA NA NA NA NA 0.152 NA 4.7823 1174 17 43197593 43197593 G A intronic PLCD3 NA NA NA intronic ENSG00000161714 NA NA NA NA NA 17q21.31 NA NA Name=9 NA rs2129732 0.22 0.22 0.234 0.205471 0.2177 0.0923 0.1844 0.3215 0.1677 0.22 0.1 0.23 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877453 NA NA NA NA NA 0.232 NA 4.7823 1174 1 165533005 165533005 C A exonic LRRC52 NA synonymous SNV LRRC52:NM_001005214:exon2:c.C886A:p.R296R exonic ENSG00000162763 NA synonymous SNV ENSG00000162763:ENST00000294818:exon2:c.C886A:p.R296R NA NA 1q24.1 NA NA NA NA rs453717 0.29 0.29 0.302 0.319489 0.3052 0.2282 0.2954 0.3767 0.3681 0.3 0.2 0.31 0.39 0.2933 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092932 NA NA 0.286047 0.342941 ID=COSM1335909;OCCURENCE=1(large_intestine) 0.268 NA 4.7821196 1174 21 33370900 33370900 T C exonic HUNK NA synonymous SNV HUNK:NM_014586:exon11:c.T1548C:p.S516S exonic ENSG00000142149 NA synonymous SNV ENSG00000142149:ENST00000270112:exon11:c.T1548C:p.S516S Score=428;Name=lod=73 NA 21q22.11 NA NA NA NA rs9305483 0.62 0.62 0.605 0.634784 0.6173 0.6488 0.6383 0.5673 0.727 0.62 0.67 0.6 0.57 0.6309 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.35748 1.35748 NA 0.637326 0.580799 NA 0.63 NA 4.7811406 1174 7 47920345 47920345 G A exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon21:c.C3501T:p.Y1167Y exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon21:c.C3501T:p.Y1167Y NA NA 7p12.3 NA NA NA NA rs62447081 0.31 0.31 0.325 0.340056 0.2932 0.0952 0.3429 0.59 0.3006 0.29 0.08 0.33 0.58 0.3084 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085049 NA NA 0.283953 0.548343 NA 0.304 NA 4.7811136 1174 20 2633404 2633404 C G intronic NOP56 NA NA NA intronic ENSG00000101361 NA NA NA NA NA 20p13 NA Name=Pol2(b),Pol2-4H8,NFKB,HEY1,c-Myc,Nrf1,TBP,TAF1,POU2F2,Pol2(phosphoS2),NRSF,Pol2,YY1_(C-20),Max,Oct-2 Name=31 NA rs6115307 0.7 0.7 0.689 0.754393 0.6431 0.8175 0.6816 0.8147 0.774 0.64 0.77 0.68 0.73 0.5758 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0712 NA NA NA NA NA 0.174 NA 4.7811 1174 5 58118916 58118916 C T intronic RAB3C NA NA NA ncRNA_exonic ENSG00000240412 NA NA NA Score=763;Name=lod=1679 NA 5q11.2 NA NA NA NA rs2675385 0.44 0.44 0.438 0.440096 0.5527 0.2242 0.4597 0.4637 0.501 0.56 0.23 0.49 0.46 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179698 NA NA NA NA NA 0.428 NA 4.7806333 1174 16 78389473 78389473 T C intronic WWOX NA NA NA ncRNA_exonic ENSG00000260014 NA NA NA Score=643;Name=lod=549 NA 16q23.1 NA NA NA NA rs7205915 0.44 0.44 0.349 0.455871 0.5527 0.0248 0.4337 0.7791 0.3793 0.56 0.02 0.46 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051133 NA NA NA NA NA 0.268 NA 4.7806333 1174 17 78092063 78092063 G A exonic GAA NA synonymous SNV GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G exonic ENSG00000171298 NA synonymous SNV ENSG00000171298:ENST00000302262:exon18:c.G2553A:p.G851G,ENSG00000171298:ENST00000390015:exon19:c.G2553A:p.G851G NA NA 17q25.3 NA NA NA NA rs1042397 0.5 0.5 0.491 0.509385 0.663 0.2887 0.4942 0.5439 0.5429 0.66 0.27 0.49 0.53 0.5805 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643413 NA NA 0.642674 0.530867 NA 0.58 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078176.2;CLNDSDB=.;CLNDSDBID=. 4.7804926 1174 17 8136092 8136092 C T intronic CTC1 NA NA NA intronic ENSG00000178971 NA NA NA NA Name=Telomere length 17p13.1 NA NA NA NA rs3027234 0.12 0.12 0.119 0.0974441 0.2197 0.0377 0.1225 0.0424 0.09 0.23 0.04 0.15 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449014 NA NA NA NA NA 0.065 NA 4.7803 1174 3 49690496 49690496 C T exonic BSN NA synonymous SNV BSN:NM_003458:exon5:c.C3507T:p.S1169S exonic ENSG00000164061 NA synonymous SNV ENSG00000164061:ENST00000296452:exon5:c.C3507T:p.S1169S NA NA 3p21.31 NA NA NA NA rs11709525 0.23 0.23 0.225 0.207468 0.3241 0.0565 0.1657 0.2632 0.1973 0.32 0.06 0.22 0.3 0.2651 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.515559 NA NA 0.297209 0.26759 ID=COSM446709;OCCURENCE=1(breast) 0.312 NA 4.7802576 1174 5 150647012 150647012 A G exonic GM2A NA synonymous SNV GM2A:NM_000405:exon4:c.A582G:p.X194X exonic ENSG00000196743 NA synonymous SNV ENSG00000196743:ENST00000357164:exon4:c.A582G:p.X194X NA NA 5q33.1 NA NA NA NA rs1048723 0.26 0.26 0.253 0.265575 0.3171 0.2698 0.4524 0.0885 0.3149 0.3 0.26 0.38 0.11 0.2913 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404632 NA NA 0.278488 0.132773 NA 0.254 NA 4.7797786 1174 6 36733132 36733132 G A exonic CPNE5 NA synonymous SNV CPNE5:NM_020939:exon11:c.C759T:p.Y253Y exonic ENSG00000124772 NA synonymous SNV ENSG00000124772:ENST00000244751:exon11:c.C759T:p.Y253Y Score=568;Name=lod=271 NA 6p21.2 NA NA NA NA rs763048 0.58 0.58 0.579 0.541933 0.6233 0.619 0.5821 0.3661 0.5879 0.63 0.65 0.62 0.39 0.6111 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.95299 NA NA 0.652907 0.391966 NA 0.558 NA 4.7793596 1174 5 55571888 55571888 A C intergenic ANKRD55,MAP3K1 dist=42702;dist=539012 NA NA ncRNA_exonic ENSG00000248781 NA NA NA Score=836;Name=lod=3324 NA 5q11.2 NA NA NA NA rs160076 0.16 0.16 0.12 0.135982 0.2207 0.002 0.1643 0.2247 0.047 0.21 0.01 0.19 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45417 NA NA NA NA NA 0.094 NA 4.7793 1174 9 5418334 5418334 T C intronic PLGRKT NA NA NA intronic ENSG00000107020 NA NA NA Score=618;Name=lod=434 NA 9p24.1 NA NA NA NA rs10815214 0.33 0.33 0.349 0.353634 0.2207 0.2758 0.2795 0.5499 0.3579 0.21 0.32 0.3 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206058 NA NA NA NA NA 0.341 NA 4.7793 1174 17 43158902 43158902 G A intronic NMT1 NA NA NA intronic ENSG00000136448 NA NA NA Score=243;Name=lod=13 NA 17q21.31 NA NA NA NA rs916661 0.13 0.13 0.116 0.126597 0.2207 0.0218 0.2032 0.0719 0.1575 0.22 0.02 0.18 0.09 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.542662 3.542662 NA NA NA NA 0.159 NA 4.7793 1174 19 15027610 15027610 C A intergenic OR7A17,OR7C2 dist=35443;dist=24691 NA NA ncRNA_exonic ENSG00000198367 NA NA NA Score=525;Name=lod=181 NA 19p13.12 NA NA NA NA rs55788084 0.18 0.18 0.18 0.187101 0.2207 0.0268 0.2118 0.2852 0.1677 0.22 0.02 0.21 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140638 NA NA NA NA NA 0.246 NA 4.7793 1174 15 64263784 64263784 G A intronic DAPK2 NA NA NA intronic ENSG00000035664 NA NA NA NA NA 15q22.31 NA Name=EBF,EBF1_(C-8) Name=14 NA rs7180050 0.27 0.27 0.23 0.241214 0.4374 0.0109 0.415 0.18 0.2362 0.42 0.01 0.4 0.23 0.3503 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11307 NA NA 0.43314 0.23468 NA 0.297 NA 4.77916 1174 14 74196686 74196686 T C exonic ELMSAN1 NA synonymous SNV ELMSAN1:NM_001043318:exon4:c.A1752G:p.A584A,ELMSAN1:NM_194278:exon4:c.A1752G:p.A584A exonic ENSG00000156030 NA nonsynonymous SNV ENSG00000156030:ENST00000451078:exon4:c.A1328G:p.Q443R NA NA 14q24.3 NA NA NA NA rs2075025 0.56 0.56 0.542 0.604034 0.3887 0.8323 0.4524 0.649 0.637 0.37 0.86 0.43 0.61 0.4627 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711873 NA 0 0.369737 0.59446 NA 0.558 NA 4.778863 1174 1 115417093 115417093 A C intronic SYCP1 NA NA NA intronic ENSG00000198765 NA NA NA Score=284;Name=lod=19 NA 1p13.2 NA NA NA NA rs7518392 0.05 0.05 0.039 0.0495208 0.0795 0.0159 0.0749 0.0333 0.0573 0.07 0.02 0.09 0.02 0.0644 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761211 NA NA 0.077602 0.039924 NA 0.109 NA 4.778498 1174 1 21755345 21755345 T C intergenic ECE1,NBPF3 dist=83311;dist=11238 NA NA ncRNA_exonic ENSG00000187952 NA NA NA Score=807;Name=lod=2532 NA 1p36.12 NA NA NA NA rs41302023 0.15 0.15 0.115 0.142173 0.2217 0.0823 0.1772 0.0681 0.1973 0.22 0.09 0.17 0.08 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453054 NA NA NA NA NA 0.188 NA 4.7783 1174 1 146522722 146522722 T C intergenic LOC728989,PRKAB2 dist=8123;dist=103963 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=638;Name=lod=523 NA 1q21.1 NA NA NA NA rs671205 0.32 0.32 0.284 0.359625 0.2217 0.4425 0.4135 0.3079 0.4479 0.22 0.44 0.37 0.31 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338781 NA NA NA NA NA 0.239 NA 4.7783 1174 1 153197885 153197885 A G intergenic PRR9,LOR dist=6092;dist=34294 NA NA ncRNA_exonic ENSG00000230779 NA NA NA Score=805;Name=lod=2494 NA 1q21.3 NA NA NA NA rs35358388 0.17 0.17 0.171 0.140176 0.2217 0.0883 0.1354 0.1687 0.0746 0.23 0.1 0.16 0.16 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632061 NA NA NA NA NA 0.116 NA 4.7783 1174 1 153198193 153198193 C T intergenic PRR9,LOR dist=6400;dist=33986 NA NA ncRNA_exonic ENSG00000230779 NA NA NA Score=805;Name=lod=2494 NA 1q21.3 NA NA NA NA rs12136409 0.15 0.15 0.155 0.118411 0.2217 0.0883 0.1311 0.0885 0.0746 0.23 0.1 0.15 0.08 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729038 NA NA NA NA NA 0.072 NA 4.7783 1174 7 12511173 12511173 C T intergenic VWDE,SCIN dist=67321;dist=99030 NA NA ncRNA_exonic ENSG00000236048 NA NA NA Score=574;Name=lod=288 NA 7p21.3 NA NA NA NA rs12699379 0.27 0.27 0.246 0.328275 0.2217 0.4752 0.4669 0.1589 0.4172 0.18 0.47 0.37 0.12 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904381 NA NA NA NA NA 0.304 NA 4.7783 1174 1 183212548 183212548 T G UTR3 LAMC2 NM_005562:c.*13T>G NA NA UTR3 ENSG00000058085 ENST00000264144:c.*13T>G NA NA NA NA 1q25.3 NA NA Name=61 NA rs3768593 0.3 0.3 0.296 0.310903 0.1501 0.3681 0.3141 0.3744 0.3292 0.16 0.39 0.29 0.39 0.2372 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.060942 2.060942 NA 0.167907 0.350136 NA 0.225 NA 4.7781264 1174 7 12511109 12511109 G C intergenic VWDE,SCIN dist=67257;dist=99094 NA NA ncRNA_exonic ENSG00000236048 NA NA NA Score=574;Name=lod=288 NA 7p21.3 NA NA NA NA rs3735181 0.3 0.3 0.264 0.328474 0.2227 0.4752 0.4669 0.1589 0.4172 0.22 0.5 0.41 0.14 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455597 NA NA NA NA NA 0.304 NA 4.7773 1174 7 148277699 148277699 G A intergenic CNTNAP2,C7orf33 dist=159611;dist=9958 NA NA ncRNA_exonic ENSG00000213210 NA NA NA Score=692;Name=lod=868 NA 7q36.1 NA NA NA NA rs73155978 0.17 0.17 0.169 0.141973 0.2227 0.1181 0.1542 0.118 0.1074 0.2 0.13 0.17 0.15 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872848 NA NA NA NA NA 0.275 NA 4.7773 1174 17 43197675 43197675 T C intronic PLCD3 NA NA NA intronic ENSG00000161714 NA NA NA NA NA 17q21.31 NA NA Name=9 NA rs7226273 0.08 0.08 0.087 0.0866613 0.0775 0.0149 0.049 0.1778 0.0736 0.07 0.01 0.06 0.19 0.0716 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412422 NA NA 0.073909 0.152842 NA 0.087 NA 4.776991 1174 9 14618856 14618856 C T UTR3 ZDHHC21 NM_178566:c.*108G>A NA NA UTR3 ENSG00000175893 ENST00000380916:c.*108G>A NA NA Score=850;Name=lod=3782 NA 9p22.3 NA NA NA NA rs3802482 0.58 0.58 0.556 0.602636 0.5567 0.6121 0.6556 0.5371 0.6912 0.56 0.62 0.65 0.52 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.702928 1.702928 NA NA NA NA 0.688 NA 4.7766334 1174 18 24179856 24179856 G A intronic KCTD1 NA NA NA ncRNA_exonic ENSG00000263846 NA NA NA Score=587;Name=lod=323 NA 18q11.2 NA NA NA NA rs546234 0.5 0.5 0.481 0.51238 0.5567 0.4296 0.4611 0.5197 0.5787 0.55 0.44 0.5 0.49 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.805575 1.805575 NA NA NA NA 0.478 NA 4.7766333 1174 20 62714783 62714783 C G exonic C20orf201 NA synonymous SNV C20orf201:NM_001007125:exon2:c.G678C:p.A226A exonic ENSG00000171695 NA synonymous SNV ENSG00000171695:ENST00000308906:exon2:c.G678C:p.A226A NA NA 20q13.33 NA Name=Egr-1,CTCF NA NA rs6010717 0.67 0.67 0.661 0.624601 0.6531 0.7093 0.6628 0.6422 0.4571 0.65 0.69 0.68 0.66 0.6124 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.61015 NA NA 0.624796 0.635455 ID=COSM444246;OCCURENCE=1(breast) 0.674 NA 4.7763706 1174 1 146522606 146522606 T C intergenic LOC728989,PRKAB2 dist=8007;dist=104079 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=638;Name=lod=523 NA 1q21.1 NA NA NA NA rs521687 0.34 0.34 0.322 0.382987 0.2237 0.4335 0.4179 0.4039 0.4417 0.22 0.44 0.37 0.39 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80231 NA NA NA NA NA 0.239 NA 4.7763 1174 6 101337975 101337975 T G intergenic ASCC3,GRIK2 dist=8751;dist=508886 NA NA ncRNA_exonic ENSG00000270987 NA NA NA Score=420;Name=lod=68 NA 6q16.3 NA NA NA NA rs612459 0.12 0.12 0.108 0.091853 0.2237 0.001 0.1182 0.0537 0.0828 0.22 0.0017 0.14 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.760817 2.760817 NA NA NA NA 0.116 NA 4.7763 1174 6 101338159 101338159 G A intergenic ASCC3,GRIK2 dist=8935;dist=508702 NA NA ncRNA_exonic ENSG00000270987 NA NA NA Score=340;Name=lod=32 NA 6q16.3 NA NA NA NA rs613338 0.17 0.17 0.164 0.150559 0.2237 0.001 0.1297 0.27 0.0828 0.22 0.0017 0.15 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384818 NA NA NA NA NA 0.174 NA 4.7763 1174 9 43314207 43314207 G A intergenic LOC642929,SPATA31A6 dist=168723;dist=310295 NA NA ncRNA_exonic ENSG00000197805 NA NA NA Score=804;Name=lod=2472 NA 9p12 NA NA NA NA rs28668662 0.19 0.19 0.184 0.19369 0.2237 0.2808 0.2349 0.0968 0.1748 0.21 0.25 0.2 0.1 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347406 NA NA NA NA NA 0.007 NA 4.7763 1174 10 43312970 43312970 C T intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA Name=JunD NA NA rs12245355 0.09 0.09 0.063 0.119209 0.0746 0.0258 0.1571 0.1884 0.1411 0.06 0.02 0.16 0.17 0.0938 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000155 NA NA 0.055867 0.138434 NA 0.007 NA 4.775733 1174 9 32488237 32488237 G C intronic DDX58 NA NA NA intronic ENSG00000107201 NA NA NA NA NA 9p21.1 NA Name=c-Jun Name=56 NA rs10813825 0.27 0.27 0.245 0.317891 0.4205 0.2083 0.3487 0.1936 0.4714 0.41 0.16 0.33 0.17 0.3774 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254236 NA NA 0.426395 0.233772 NA 0.319 NA 4.775705 1174 6 112683579 112683579 T A intergenic RFPL4B,MARCKS dist=11081;dist=1494948 NA NA ncRNA_exonic ENSG00000215807 NA NA NA Score=570;Name=lod=277 NA 6q21 NA NA NA NA rs12207048 0.11 0.11 0.107 0.104832 0.2247 0.0308 0.111 0.025 0.1616 0.21 0.03 0.13 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463446 NA NA NA NA NA 0.13 NA 4.7753 1174 12 20094524 20094524 G T intergenic AEBP2,LOC100506393 dist=419351;dist=73095 NA NA ncRNA_exonic ENSG00000256849 NA NA NA Score=736;Name=lod=1307 NA 12p12.2 NA NA NA NA rs1844950 0.33 0.33 0.297 0.309904 0.2247 0.5685 0.2968 0.2958 0.1595 0.22 0.58 0.3 0.25 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031724 NA NA NA NA NA 0.254 NA 4.7753 1174 17 20805348 20805348 A G intergenic CCDC144NL,USP22 dist=5895;dist=97558 NA NA ncRNA_exonic ENSG00000265790 NA NA NA Score=622;Name=lod=448 NA 17p11.2 NA NA NA NA rs57960567 0.25 0.25 0.221 0.251198 0.2247 0.3313 0.2839 0.1694 0.2832 0.23 0.33 0.27 0.18 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210614 NA NA NA NA ID=COSN165365;OCCURENCE=1(breast) 0.203 NA 4.7753 1174 5 167943827 167943827 G A exonic RARS NA synonymous SNV RARS:NM_002887:exon13:c.G1497A:p.A499A exonic ENSG00000113643 NA synonymous SNV ENSG00000113643:ENST00000538719:exon12:c.G879A:p.A293A,ENSG00000113643:ENST00000231572:exon13:c.G1497A:p.A499A NA NA 5q34 Score=801;Name=V$OCT_C NA NA NA rs653568 0.79 0.79 0.8 0.784145 0.5895 0.9415 0.7565 0.9818 0.5746 0.58 0.95 0.75 0.98 0.6771 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.970404 NA NA 0.624884 0.92828 NA 0.638 NA 4.7751826 1175 7 46039521 46039521 G C intergenic IGFBP3,TNS3 dist=78650;dist=1275231 NA NA ncRNA_exonic ENSG00000221971 NA NA NA Score=581;Name=lod=305 NA 7p12.3 NA NA NA NA rs2462684 0.15 0.15 0.132 0.136981 0.2256 0.0169 0.2968 0.0983 0.1084 0.23 0.02 0.25 0.09 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.647467 NA NA NA NA NA 0.13 NA 4.7744 1175 10 54172815 54172815 C A intergenic DKK1,MBL2 dist=95398;dist=352325 NA NA ncRNA_exonic ENSG00000227972 NA NA NA Score=675;Name=lod=741 NA 10q21.1 NA NA NA NA rs10824470 0.37 0.37 0.37 0.384185 0.2256 0.629 0.2104 0.4357 0.3487 0.21 0.66 0.23 0.4 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395679 NA NA NA NA NA 0.319 NA 4.7744 1175 13 72487905 72487905 T C intergenic DACH1,MZT1 dist=46575;dist=794590 NA NA ncRNA_exonic ENSG00000232881 NA NA NA Score=476;Name=lod=115 NA 13q21.33 NA NA NA NA rs2706405 0.44 0.44 0.437 0.433706 0.2256 0.7183 0.4035 0.5688 0.1933 0.22 0.71 0.33 0.55 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053313 NA NA NA NA NA 0.391 NA 4.7744 1175 19 16192625 16192625 G A intronic TPM4 NA NA NA UTR5 ENSG00000167460 ENST00000592138:c.-4612G>A NA NA NA NA 19p13.12 NA Name=Pol2-4H8 NA NA rs7247875 0.48 0.48 0.481 0.480032 0.3926 0.7192 0.3919 0.3971 0.498 0.39 0.73 0.41 0.4 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889824 NA NA NA NA NA 0.486 NA 4.7740667 1175 1 19583725 19583725 T C intronic MRTO4 NA NA NA intronic ENSG00000053372 NA NA NA NA NA 1p36.13 NA NA Name=19 NA rs1738017 0.25 0.25 NA 0.251398 0.2266 0.1012 0.183 0.4932 0.1534 0.24 0.1 0.2 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185992 NA NA NA NA NA 0.442 NA 4.7734 1175 2 132181483 132181483 G T intergenic LOC389043,LOC401010 dist=15682;dist=18251 NA NA ncRNA_exonic ENSG00000214077 NA NA NA Score=774;Name=lod=1871 NA 2q21.1 NA NA NA NA rs1059524 0.38 0.38 0.341 0.375998 0.2266 0.754 0.5159 0.1687 0.3211 0.22 0.72 0.43 0.17 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630519 NA NA NA NA NA 0.333 NA 4.7734 1175 2 132181872 132181872 C T intergenic LOC389043,LOC401010 dist=16071;dist=17862 NA NA ncRNA_exonic ENSG00000214077 NA NA NA Score=774;Name=lod=1871 NA 2q21.1 NA NA NA NA rs3729567 0.36 0.36 0.337 0.363818 0.2266 0.754 0.5101 0.1309 0.3139 0.22 0.72 0.43 0.13 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228381 NA NA NA NA NA 0.319 NA 4.7734 1175 15 70095755 70095755 C T intergenic LOC145837,LINC00593 dist=231976;dist=31818 NA NA ncRNA_exonic ENSG00000259496 NA NA NA Score=578;Name=lod=298 NA 15q23 NA NA NA NA rs12439031 0.35 0.35 0.321 0.351637 0.2266 0.5962 0.4193 0.2103 0.3712 0.23 0.63 0.39 0.19 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557446 NA NA NA NA NA 0.326 NA 4.7734 1175 3 10049287 10049287 T C exonic LOC401052 NA nonsynonymous SNV LOC401052:NM_001008737:exon4:c.A98G:p.H33R ncRNA_exonic ENSG00000206567 NA NA NA NA NA 3p25.3 NA NA NA NA rs2272118 0.34 0.34 0.336 0.35623 0.2087 0.1369 0.3199 0.7368 0.2454 0.21 0.19 0.34 0.74 0.2706 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387238 NA NA 0.247433 0.629484 ID=COSM149331;OCCURENCE=1(stomach) 0.536 NA 4.773267 1175 1 146516341 146516341 T G intergenic LOC728989,PRKAB2 dist=1742;dist=110344 NA NA ncRNA_exonic ENSG00000227242 NA NA NA Score=515;Name=lod=165 NA 1q21.1 NA NA NA NA rs557228 0.18 0.18 0.123 0.202476 0.2276 0.0853 0.3098 0.0779 0.3896 0.25 0.09 0.31 0.08 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55017 NA NA NA NA NA 0.123 NA 4.7724 1175 2 132182138 132182138 G T intergenic LOC389043,LOC401010 dist=16337;dist=17596 NA NA ncRNA_exonic ENSG00000214077 NA NA NA Score=742;Name=lod=1384 NA 2q21.1 NA NA NA NA rs3730150 0.37 0.37 0.317 0.364217 0.2276 0.749 0.5101 0.1354 0.3139 0.22 0.72 0.43 0.13 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098307 NA NA NA NA NA 0.319 NA 4.7724 1175 2 132182159 132182159 T C intergenic LOC389043,LOC401010 dist=16358;dist=17575 NA NA ncRNA_exonic ENSG00000214077 NA NA NA Score=742;Name=lod=1384 NA 2q21.1 NA NA NA NA rs3730148 0.36 0.36 0.299 0.364617 0.2276 0.754 0.5086 0.1339 0.3139 0.22 0.72 0.42 0.13 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470113 NA NA NA NA NA 0.319 NA 4.7724 1175 2 132182199 132182199 C T intergenic LOC389043,LOC401010 dist=16398;dist=17535 NA NA ncRNA_exonic ENSG00000214077 NA NA NA Score=742;Name=lod=1384 NA 2q21.1 NA NA NA NA rs3730153 0.33 0.33 0.297 0.363818 0.2276 0.754 0.5101 0.1301 0.3139 0.18 0.69 0.39 0.09 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72653 NA NA NA NA NA 0.319 NA 4.7724 1175 6 32609015 32609015 C T intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9272686 0.21 0.21 0.186 0.184704 0.2276 0.1171 0.2406 0.2141 0.1309 0.21 0.15 0.27 0.21 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070809 NA NA NA NA NA 0.087 NA 4.7724 1175 10 54171706 54171706 G T intergenic DKK1,MBL2 dist=94289;dist=353434 NA NA ncRNA_exonic ENSG00000227972 NA NA NA Score=629;Name=lod=479 NA 10q21.1 NA NA NA NA rs7893873 0.42 0.42 0.447 0.43131 0.2276 0.6349 0.2305 0.5976 0.3487 0.21 0.66 0.25 0.58 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035337 NA NA NA NA NA 0.362 NA 4.7724 1175 10 54172174 54172174 G A intergenic DKK1,MBL2 dist=94757;dist=352966 NA NA ncRNA_exonic ENSG00000227972 NA NA NA NA NA 10q21.1 NA Name=FOXA1_(C-20) NA NA rs7897513 0.4 0.4 0.417 0.411941 0.2276 0.628 0.2248 0.5325 0.3487 0.21 0.66 0.25 0.52 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400598 NA NA NA NA NA 0.348 NA 4.7724 1175 10 91498626 91498626 T C intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA NA Name=12 NA rs12415422 0.14 0.14 0.138 0.127796 0.2276 0.001 0.1873 0.087 0.1687 0.23 0.0017 0.2 0.1 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555682 NA NA NA NA NA 0.181 NA 4.7724 1175 13 52034830 52034830 G A intergenic INTS6,MIR4703 dist=7555;dist=91895 NA NA ncRNA_exonic ENSG00000224892 NA NA NA Score=821;Name=lod=2902 NA 13q14.3 NA NA NA NA rs9535674 0.22 0.22 0.205 0.254393 0.2276 0.2183 0.183 0.2436 0.3845 0.23 0.19 0.19 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39383 NA NA NA NA NA 0.239 NA 4.7724 1175 14 24033070 24033070 C T intronic AP1G2 NA NA NA ncRNA_intronic ENSG00000258727 NA NA NA NA Name=Sudden cardiac arrest 14q11.2 NA NA NA NA rs2281680 0.12 0.12 0.13 0.140176 0.1948 0.122 0.1383 0.0061 0.2853 0.18 0.13 0.15 0.01 0.176 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.815741 1.815741 NA 0.190465 0.037693 NA 0.196 NA 4.7720683 1175 5 77412068 77412068 C T intronic AP3B1 NA NA NA intronic ENSG00000132842 NA NA NA NA NA 5q14.1 NA NA Name=6 NA rs77009095 0.04 0.04 0.033 0.0361422 0.0924 NA 0.0418 0.0023 0.0573 0.1 NA 0.05 0.002 0.0611 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.682865 2.682865 NA 0.074651 0.013164 NA 0.029 NA 4.771849 1175 19 44832684 44832684 T G exonic ZFP112 NA synonymous SNV ZFP112:NM_013380:exon4:c.A1626C:p.T542T,ZFP112:NM_001083335:exon5:c.A1644C:p.T548T exonic ENSG00000062370 NA synonymous SNV ENSG00000062370:ENST00000354340:exon4:c.A1626C:p.T542T,ENSG00000062370:ENST00000337401:exon5:c.A1644C:p.T548T,ENSG00000062370:ENST00000536500:exon5:c.A1695C:p.T565T Score=483;Name=lod=122 NA 19q13.31 NA NA NA NA rs2609880 0.65 0.65 0.62 0.65655 0.6093 0.7629 0.7651 0.5446 0.6697 0.6 0.74 0.73 0.53 0.6524 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597214 NA NA 0.63314 0.578983 NA 0.623 NA 4.7718266 1175 10 3155620 3155620 A G exonic PFKP NA synonymous SNV PFKP:NM_002627:exon13:c.A1281G:p.A427A,PFKP:NM_001242339:exon15:c.A1257G:p.A419A exonic ENSG00000067057 NA synonymous SNV ENSG00000067057:ENST00000415005:exon8:c.A633G:p.A211A,ENSG00000067057:ENST00000381125:exon13:c.A1281G:p.A427A,ENSG00000067057:ENST00000381075:exon15:c.A1257G:p.A419A NA NA 10p15.2 NA Name=BCL3 NA NA rs1052309 0.62 0.62 0.624 0.60623 0.6471 0.8363 0.5749 0.413 0.6104 0.65 0.83 0.52 0.41 0.6194 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370295 NA NA 0.628372 0.446437 NA 0.623 NA 4.7717946 1175 14 58097226 58097226 C A intronic SLC35F4 NA NA NA ncRNA_exonic ENSG00000258856 NA NA NA Score=629;Name=lod=478 NA 14q22.3 NA NA NA NA rs12883530 0.37 0.37 0.359 0.342452 0.5616 0.1131 0.5663 0.1906 0.3998 0.56 0.13 0.57 0.22 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.658961 1.658961 NA NA NA NA 0.37 NA 4.7717333 1175 6 31243828 31243828 A G intergenic HLA-C,HLA-B dist=3915;dist=77821 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=645;Name=lod=558 NA 6p21.33 NA NA NA NA rs4141168 0.26 0.26 0 0.251398 0.2286 0.3056 0.2205 0.2723 0.2127 0.24 0.3 0.19 0.28 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726378 NA NA NA NA NA NA NA 4.7714 1175 9 138679863 138679863 A G intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA Name=2 NA rs11103189 0.23 0.23 0.214 0.238219 0.2286 0.3294 0.2161 0.1551 0.2822 0.23 0.31 0.22 0.17 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330753 NA NA NA NA NA 0.152 NA 4.7714 1175 15 66773975 66773975 G A intronic MAP2K1 NA NA NA intronic ENSG00000169032 NA NA NA NA NA 15q22.31 NA Name=CTCF NA NA rs41277720 0.14 0.14 0.119 0.158546 0.2286 0.1716 0.1484 0.0166 0.272 0.22 0.11 0.2 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154675 NA NA NA NA NA 0.203 NA 4.7714 1175 16 857697 857697 C A intronic PRR25 NA NA NA intronic ENSG00000167945 NA NA NA NA NA 16p13.3 NA Name=Sin3Ak-20,HA-E2F1,Pol2-4H8,ZBTB7A_(SC-34508),HEY1,TAF1,GABP,Pol2,Pol2(phosphoS2),E2F6,ELF1_(SC-631) NA NA rs59540665 0.25 0.25 0.221 0.295327 0.2286 0.38 0.2839 0.0946 0.5562 0.22 0.38 0.29 0.09 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387726 NA NA NA NA NA 0.304 NA 4.7714 1175 17 14851296 14851296 G A intergenic HS3ST3B1,CDRT7 dist=601804;dist=82996 NA NA ncRNA_exonic ENSG00000226156 NA NA NA Score=723;Name=lod=1160 NA 17p12 NA NA NA NA rs11078275 0.21 0.21 0.226 0.172125 0.2286 0.252 0.085 0.1483 0.1258 0.24 0.26 0.09 0.18 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088145 NA NA NA NA NA 0.239 NA 4.7714 1175 5 19520932 19520932 T C intronic CDH18 NA NA NA intronic ENSG00000145526 NA NA NA Score=439;Name=lod=81 NA 5p14.3 NA NA Name=2 NA rs441865 0.36 0.36 0.341 0.369609 0.3976 0.3095 0.3386 0.3207 0.4908 0.4 0.3 0.35 0.36 0.4086 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.986087 1.986087 NA 0.422442 0.364957 NA 0.37 NA 4.771358 1175 5 86564995 86564995 T A intronic RASA1 NA NA NA UTR5 ENSG00000145715 ENST00000512763:c.-72T>A NA NA NA NA 5q14.3 NA NA Name=5 NA rs3734000 0.36 0.36 0.34 0.369409 0.3956 0.4673 0.3703 0.2163 0.4479 0.39 0.43 0.36 0.22 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309696 NA NA NA NA NA 0.355 NA 4.7710667 1175 1 232607050 232607050 T A intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA Name=STAT3,c-Fos NA NA rs12116796 0.22 0.22 0.194 0.239816 0.2296 0.1647 0.3919 0.1793 0.3016 0.22 0.16 0.37 0.18 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.01736 NA NA NA NA NA 0.297 NA 4.7704 1175 5 23304881 23304881 T C intergenic CDH12,PRDM9 dist=451150;dist=202843 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=721;Name=lod=1130 NA 5p14.2 NA NA NA NA rs16899394 0.26 0.26 0.271 0.329872 0.2296 0.2728 0.2867 0.3472 0.499 0.22 0.25 0.27 0.34 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162997 NA NA NA NA NA 0.348 NA 4.7704 1175 9 71998391 71998391 T G intronic FAM189A2 NA NA NA intronic ENSG00000135063 NA NA NA NA NA 9q21.11 NA Name=USF1_(SC-8983) NA NA rs10780333 0.25 0.25 0.262 0.296126 0.2296 0.2381 0.2147 0.3797 0.3691 0.22 0.22 0.22 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774184 NA NA NA NA NA 0.319 NA 4.7704 1175 9 88513953 88513953 A G intergenic LOC389765,NAA35 dist=56159;dist=42104 NA NA ncRNA_exonic ENSG00000213711 NA NA NA Score=794;Name=lod=2241 NA 9q21.33 NA NA NA NA rs640731 0.23 0.23 0.181 0.267772 0.2296 0.3532 0.3617 0.0212 0.4857 0.24 0.34 0.3 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290195 NA NA NA NA NA 0.167 NA 4.7704 1175 10 52487706 52487706 C T intergenic SGMS1,ASAH2B dist=103969;dist=11982 NA NA ncRNA_exonic ENSG00000213667 NA NA NA Score=775;Name=lod=1882 NA 10q11.23 NA NA NA NA rs12253936 0.27 0.27 0.26 0.269169 0.2296 0.4157 0.1816 0.2315 0.272 0.23 0.42 0.19 0.24 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578149 NA NA NA NA NA 0.239 NA 4.7704 1175 18 61564513 61564513 A G intronic SERPINB2 NA NA NA intronic ENSG00000197632,ENSG00000242550 NA NA NA NA NA 18q21.33 NA NA Name=39 NA rs2278180 0.33 0.33 0.317 0.349241 0.2296 0.499 0.3559 0.3669 0.2894 0.22 0.46 0.33 0.35 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298635 1.298635 NA NA NA NA 0.283 NA 4.7704 1175 10 21318457 21318457 C A intronic NEBL NA NA NA ncRNA_exonic ENSG00000228753 NA NA NA Score=674;Name=lod=733 NA 10p12.31 NA NA NA NA rs3858203 0.62 0.62 0.577 0.621206 0.5636 0.7282 0.5764 0.5734 0.6667 0.56 0.75 0.6 0.57 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156846 NA NA NA NA NA 0.435 NA 4.7697333 1175 17 46673723 46673723 T G ncRNA_UTR3 HOXB6 NA NA NA ncRNA_UTR3 ENSG00000108511 NA NA NA NA NA 17q21.32 NA Name=SUZ12 NA NA rs12949148 0.4 0.4 0.158 0.426917 0.5825 0.5208 0.5432 0.1127 0.5123 0.5 0.49 0.47 0.11 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.43211 1.43211 NA 0.314666 0.050228 NA NA NA 4.7695006 1175 10 51488784 51488784 G A intergenic AGAP7,MSMB dist=2457;dist=60769 NA NA intergenic ENSG00000204169,ENSG00000228326 dist=2457;dist=43318 NA NA NA NA 10q11.23 NA Name=ZNF263,HA-E2F1,TBP,Pol2 Name=116 NA rs2611498 NA NA 0.571 0.588059 0.5646 0.7758 0.5533 0.4962 0.5675 NA NA NA NA NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553878 NA NA NA NA NA 0.543 NA 4.7687334 1175 10 51488788 51488788 C T intergenic AGAP7,MSMB dist=2461;dist=60765 NA NA intergenic ENSG00000204169,ENSG00000228326 dist=2461;dist=43314 NA NA NA NA 10q11.23 NA Name=Pol2,ZNF263,HA-E2F1,TBP Name=116 NA rs2611497 NA NA 0.574 0.588059 0.5646 0.7758 0.5533 0.4962 0.5675 NA NA NA NA NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628032 NA NA NA NA NA 0.543 NA 4.7687334 1175 14 68888534 68888534 G A intronic RAD51B NA NA NA ncRNA_exonic ENSG00000258477 NA NA NA Score=499;Name=lod=142 NA 14q24.1 NA NA NA NA rs8013236 0.59 0.59 0.54 0.594649 0.5646 0.5129 0.7176 0.6051 0.6084 0.57 0.53 0.7 0.6 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.839174 1.839174 NA NA NA NA 0.63 NA 4.7687333 1175 16 31580530 31580530 A C ncRNA_exonic YBX3P1 NA NA NA ncRNA_exonic ENSG00000261614 NA NA NA Score=527;Name=lod=184 NA 16p11.2 NA NA NA NA rs4889548 0.31 0.31 0.292 0.310903 0.4901 0.1538 0.3372 0.2451 0.3589 0.47 0.14 0.35 0.25 0.4081 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60994 NA NA NA NA ID=COSN165182;OCCURENCE=1(NS),1(large_intestine) 0.246 NA 4.7684666 1175 17 18542107 18542107 G A intronic TBC1D28 NA NA NA intronic ENSG00000189375 NA NA NA Score=321;Name=lod=27 NA 17p11.2 NA NA NA NA rs80078274 0.16 0.16 0.141 0.167732 0.2316 0.1806 0.2248 0.0348 0.228 0.2 0.16 0.24 0.04 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.322956 1.322956 NA NA NA ID=COSN165357;OCCURENCE=1(breast) 0.087 NA 4.7684 1175 9 136137547 136137547 C A exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs55876802 0.01 0.01 0.008 0.0107827 0.0288 NA 0.0173 0.0038 0.0082 0.03 NA 0.02 0.01 0.016 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660102 NA 0.13 0.020584 0.00446 NA NA NA 4.7679493 1175 2 113875509 113875509 G A UTR5 IL1RN NM_000577:c.-87G>A,NM_173843:c.-9795G>A,NM_173841:c.-87G>A NA NA UTR5 ENSG00000136689 ENST00000361779:c.-9795G>A,ENST00000354115:c.-87G>A,ENST00000259206:c.-87G>A NA NA NA NA 2q13 NA Name=Pol2,GATA-1 NA NA rs2234677 0.18 0.18 0.151 0.186502 0.2913 0.1091 0.3242 0.0174 0.2894 0.29 0.09 0.31 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001612 NA NA 0.274356 0.04841 NA 0.239 NA 4.7676774 1175 10 75671875 75671875 G A intronic C10orf55,PLAU NA NA NA intronic ENSG00000122861,ENSG00000222047 NA NA NA NA NA 10q22.2 NA NA Name=16 NA rs2227581 0.03 0.03 0.028 0.0329473 0.0805 0.001 0.0389 0.003 0.0532 0.08 NA 0.05 0.002 0.0637 0.088 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.485246 1.485246 NA 0.088256 0.019519 NA 0.007 NA 4.767544 1175 11 113724943 113724943 T C intronic USP28 NA NA NA intronic ENSG00000048028 NA NA NA NA NA 11q23.2 NA NA Name=2 NA rs2513590 0.04 0.04 0.029 0.0379393 0.0726 0.001 0.072 0.0053 0.0603 0.08 NA 0.07 0.01 0.069 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894958 NA NA 0.090899 0.017719 NA 0.065 NA 4.767501 1175 6 32608953 32608953 C T intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9272682 0.19 0.19 0.063 0.194289 0.2326 0.128 0.2695 0.2209 0.1339 0.2 0.14 0.24 0.19 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504683 NA NA NA NA NA 0.007 NA 4.7674 1175 7 2691736 2691736 A G intronic TTYH3 NA NA NA intronic ENSG00000136295 NA NA NA NA NA 7p22.3 NA Name=TR4,Max,SUZ12 NA NA rs35868808 0.24 0.24 0.245 0.230232 0.2326 0.1766 0.1931 0.3086 0.2035 0.23 0.19 0.25 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278475 NA NA NA NA NA 0.167 NA 4.7674 1175 9 2039983 2039983 A C intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA Name=16 NA rs10964528 0.39 0.39 0.402 0.410144 0.2326 0.5208 0.2954 0.6044 0.2975 0.23 0.46 0.31 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651022 NA NA NA NA NA 0.435 NA 4.7674 1175 14 24219529 24219529 G A intergenic DHRS2,DHRS4-AS1 dist=104681;dist=188411 NA NA ncRNA_exonic ENSG00000259043 NA NA NA Score=415;Name=lod=65 NA 14q11.2 NA NA NA NA rs35845573 0.12 0.12 0.109 0.0782748 0.2326 0.001 0.1686 0.0076 0.0307 0.23 NA 0.22 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.028279 NA NA NA NA NA 0.116 NA 4.7674 1175 15 40488851 40488851 G A exonic BUB1B NA synonymous SNV BUB1B:NM_001211:exon9:c.G1164A:p.A388A exonic ENSG00000156970 NA synonymous SNV ENSG00000156970:ENST00000287598:exon9:c.G1164A:p.A388A,ENSG00000156970:ENST00000412359:exon9:c.G1206A:p.A402A NA NA 15q15.1 NA NA NA NA rs1047130 0.21 0.21 0.202 0.190695 0.327 0.1627 0.3242 0.0182 0.2178 0.32 0.18 0.31 0.02 0.2668 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764867 NA NA 0.305814 0.071493 NA 0.312 NA 4.7670526 1175 22 37578579 37578579 C T exonic C1QTNF6 NA synonymous SNV C1QTNF6:NM_031910:exon3:c.G486A:p.T162T,C1QTNF6:NM_182486:exon3:c.G486A:p.T162T exonic ENSG00000133466 NA synonymous SNV ENSG00000133466:ENST00000255836:exon2:c.G114A:p.T38T,ENSG00000133466:ENST00000337843:exon3:c.G486A:p.T162T,ENSG00000133466:ENST00000397110:exon3:c.G486A:p.T162T NA NA 22q12.3 NA NA NA NA rs229519 0.45 0.45 0.447 0.464657 0.2763 0.495 0.4769 0.6339 0.3896 0.28 0.51 0.44 0.65 0.3593 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515646 NA NA 0.264302 0.571947 ID=COSM149291;OCCURENCE=1(stomach),1(prostate) 0.5 NA 4.7667646 1175 1 183112041 183112041 G C UTR3 LAMC1 NM_002293:c.*116G>C NA NA UTR3 ENSG00000135862 ENST00000258341:c.*116G>C NA NA Score=577;Name=lod=295 NA 1q25.3 NA NA NA NA rs3359 0.57 0.57 0.55 0.576278 0.5666 0.622 0.6455 0.5038 0.5879 0.58 0.57 0.61 0.55 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.866393 3.866393 NA NA NA NA 0.507 NA 4.7667334 1175 1 120165826 120165826 C T exonic ZNF697 NA synonymous SNV ZNF697:NM_001080470:exon3:c.G1140A:p.P380P exonic ENSG00000143067 NA synonymous SNV ENSG00000143067:ENST00000421812:exon3:c.G1140A:p.P380P Score=774;Name=lod=1865 NA 1p12 NA NA NA NA rs12076924 0.7 0.7 0.719 0.715855 0.5845 0.7738 0.6484 0.8434 0.6667 0.6 0.77 0.6 0.86 0.7163 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910719 NA NA 0.59923 0.82863 ID=COSM423603;OCCURENCE=1(breast) 0.551 NA 4.7666366 1175 1 114682632 114682632 G T intronic SYT6 NA NA NA intronic ENSG00000134207 NA NA NA NA NA 1p13.2 Score=990;Name=V$MZF1_01 NA NA NA rs72690087 0.07 0.07 0.064 0.0690895 0.1223 NA 0.0922 0.0658 0.0736 0.11 NA 0.1 0.06 0.1112 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.933537 2.933537 NA NA NA NA 0.109 NA 4.7665 1175 1 117257351 117257351 G T intergenic MIR320B1,CD2 dist=42902;dist=39735 NA NA ncRNA_exonic ENSG00000231072 NA NA NA Score=818;Name=lod=2810 NA 1p13.1 NA NA NA NA rs4271251 0.13 0.13 0.128 0.134385 0.2336 0.0407 0.1643 0.0764 0.1861 0.23 0.04 0.14 0.08 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907213 NA NA NA NA NA 0.051 NA 4.7664 1175 5 126847729 126847729 T C intergenic MEGF10,PRRC1 dist=50819;dist=5580 NA NA ncRNA_exonic ENSG00000250859 NA NA NA Score=385;Name=lod=49 NA 5q23.2 NA NA NA NA rs182844 0.45 0.45 0.42 0.485024 0.2336 0.626 0.438 0.6392 0.4233 0.24 0.62 0.41 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084321 NA NA NA NA NA 0.507 NA 4.7664 1175 6 68643897 68643897 G A intergenic NONE,BAI3 dist=NONE;dist=701735 NA NA ncRNA_exonic ENSG00000270509 NA NA NA Score=606;Name=lod=388 NA 6q12 NA NA NA NA rs7453254 0.21 0.21 0.221 0.264177 0.2336 0.0486 0.1686 0.388 0.4182 0.24 0.04 0.19 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948161 NA NA NA NA NA 0.377 NA 4.7664 1175 9 119094545 119094545 A C intronic PAPPA NA NA NA intronic ENSG00000182752 NA NA NA NA NA 9q33.1 NA Name=USF-1,USF2 NA NA rs731146 0.11 0.11 0.096 0.0714856 0.2336 NA 0.0836 0.028 0.0286 0.23 NA 0.1 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450876 NA NA NA NA NA 0.13 NA 4.7664 1175 15 50710116 50710116 C T intergenic MIR4712,USP8 dist=57509;dist=6463 NA NA ncRNA_exonic ENSG00000259465 NA NA NA Score=686;Name=lod=819 NA 15q21.2 NA NA NA NA rs17431564 0.17 0.17 0.149 0.136581 0.2336 0.1389 0.2536 0.028 0.0982 0.22 0.15 0.25 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950574 NA NA NA NA NA 0.145 NA 4.7664 1175 17 15687239 15687239 G T intergenic CDRT15P2,MEIS3P1 dist=18236;dist=2925 NA NA ncRNA_exonic ENSG00000227018 NA NA NA Score=304;Name=lod=23 NA 17p12 NA NA NA NA rs1971160 0.18 0.18 0.161 0.171925 0.2336 0.1905 0.1945 0.0613 0.2229 0.24 0.19 0.19 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406003 NA NA NA NA NA 0.145 NA 4.7664 1175 18 24412227 24412227 G T intergenic LOC728606,AQP4 dist=128625;dist=19781 NA NA ncRNA_exonic ENSG00000266184 NA NA NA Score=649;Name=lod=578 NA 18q11.2 NA NA NA NA rs16942794 0.23 0.23 0.213 0.208866 0.2336 0.4266 0.1585 0.0303 0.2362 0.23 0.43 0.19 0.03 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266943 NA NA NA NA NA 0.123 NA 4.7664 1175 2 242066314 242066314 T C exonic PASK NA synonymous SNV PASK:NM_001252119:exon10:c.A2016G:p.A672A,PASK:NM_001252122:exon10:c.A1911G:p.A637A,PASK:NM_001252124:exon10:c.A2016G:p.A672A,PASK:NM_015148:exon10:c.A2016G:p.A672A,PASK:NM_001252120:exon11:c.A2016G:p.A672A exonic ENSG00000115687 NA synonymous SNV ENSG00000115687:ENST00000539818:exon7:c.A1368G:p.A456A,ENSG00000115687:ENST00000544142:exon7:c.A1458G:p.A486A,ENSG00000115687:ENST00000234040:exon10:c.A2016G:p.A672A,ENSG00000115687:ENST00000358649:exon10:c.A2016G:p.A672A,ENSG00000115687:ENST00000403638:exon10:c.A2016G:p.A672A,ENSG00000115687:ENST00000405260:exon10:c.A2016G:p.A672A NA NA 2q37.3 NA NA NA NA rs2240542 0.39 0.39 0.412 0.428315 0.2575 0.4077 0.415 0.6331 0.3579 0.25 0.38 0.4 0.64 0.3462 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665564 NA NA 0.29686 0.589197 NA 0.442 NA 4.7661066 1175 4 62598689 62598689 C T exonic LPHN3 NA synonymous SNV LPHN3:NM_015236:exon5:c.C612T:p.H204H exonic ENSG00000150471 NA synonymous SNV ENSG00000150471:ENST00000504896:exon5:c.C612T:p.H204H,ENSG00000150471:ENST00000506700:exon5:c.C612T:p.H204H,ENSG00000150471:ENST00000508946:exon5:c.C612T:p.H204H,ENSG00000150471:ENST00000514157:exon5:c.C612T:p.H204H,ENSG00000150471:ENST00000514996:exon5:c.C612T:p.H204H,ENSG00000150471:ENST00000545650:exon5:c.C612T:p.H204H,ENSG00000150471:ENST00000506720:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000506746:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000507164:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000507625:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000508693:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000509896:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000511324:exon6:c.C816T:p.H272H,ENSG00000150471:ENST00000512091:exon7:c.C612T:p.H204H,ENSG00000150471:ENST00000514591:exon7:c.C612T:p.H204H Score=753;Name=lod=1529 NA 4q13.1 NA NA NA NA rs10434219 0.78 0.78 0.771 0.789936 0.6153 0.9454 0.768 0.8941 0.684 0.61 0.94 0.74 0.89 0.6811 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018849 NA NA 0.60444 0.861551 ID=COSM1131097,COSM1131096,COSM1131098;OCCURENCE=1(prostate) 0.638 NA 4.7658266 1175 20 31609581 31609581 C T exonic BPIFB2 NA synonymous SNV BPIFB2:NM_025227:exon15:c.C1311T:p.V437V exonic ENSG00000078898 NA synonymous SNV ENSG00000078898:ENST00000170150:exon15:c.C1311T:p.V437V NA NA 20q11.21 NA NA NA NA rs17124003 0.31 0.31 0.33 0.320288 0.326 0.1964 0.2118 0.4773 0.3067 0.33 0.19 0.23 0.47 0.289 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.393441 NA NA 0.28593 0.438947 ID=COSM149161;OCCURENCE=1(stomach) 0.442 NA 4.7657366 1175 3 52568805 52568805 G T UTR5 NT5DC2 NM_022908:c.-136C>A NA NA UTR5 ENSG00000168268 ENST00000307076:c.-136C>A,ENST00000492555:c.-136C>A NA NA NA NA 3p21.1 NA NA Name=77 NA rs7639267 0.59 0.59 0.631 0.545128 0.5676 0.4504 0.6585 0.7005 0.3292 0.57 0.51 0.67 0.66 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63783 NA NA NA NA NA 0.551 NA 4.7657334 1175 13 113563650 113563650 T C intergenic ATP11A,MCF2L-AS1 dist=22168;dist=58148 NA NA UTR3 ENSG00000126217 ENST00000397036:c.*58T>C NA NA NA NA 13q34 NA NA Name=6 NA rs12873277 0.11 0.11 0.094 0.0830671 0.0676 0.2411 0.0634 0.003 0.0583 0.07 0.25 0.09 0.0041 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178787 NA NA NA NA NA 0.087 NA 4.7657334 1175 14 22038525 22038525 G T exonic OR10G3 NA synonymous SNV OR10G3:NM_001005465:exon1:c.C351A:p.T117T exonic ENSG00000169208 NA synonymous SNV ENSG00000169208:ENST00000303532:exon1:c.C351A:p.T117T NA NA 14q11.2 NA NA NA NA rs11626693 0.33 0.33 0.338 0.363818 0.3072 0.2966 0.2277 0.5371 0.3538 0.31 0.28 0.26 0.47 0.3114 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128254 NA NA 0.282442 0.489787 NA 0.384 NA 4.7656246 1175 3 11926467 11926467 A G intergenic TAMM41,SYN2 dist=38115;dist=119395 NA NA ncRNA_exonic ENSG00000230342 NA NA NA Score=498;Name=lod=141 NA 3p25.2 NA NA NA NA rs2055282 0.31 0.31 0.255 0.33746 0.2346 0.4107 0.2695 0.4085 0.32 0.23 0.4 0.28 0.37 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129091 NA NA NA NA NA 0.297 NA 4.7654 1175 9 112296403 112296403 C T intergenic PTPN3,PALM2 dist=35810;dist=106665 NA NA ncRNA_exonic ENSG00000213539 NA NA NA Score=780;Name=lod=1971 NA 9q31.3 NA NA NA NA rs7035358 0.15 0.15 0.125 0.130391 0.2346 0.0099 0.2291 0.093 0.1278 0.25 0.0035 0.22 0.1 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253593 NA NA NA NA NA 0.094 NA 4.7654 1175 12 53125214 53125214 T C intergenic KRT77,KRT76 dist=27967;dist=36725 NA NA ncRNA_exonic ENSG00000257616 NA NA NA Score=889;Name=lod=5448 NA 12q13.13 NA NA NA NA rs4761808 0.28 0.28 0.285 0.30631 0.2346 0.0347 0.3559 0.6407 0.1728 0.24 0.02 0.32 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024508 NA NA NA NA NA 0.413 NA 4.7654 1175 14 66480197 66480197 G A intergenic FUT8,LINC00238 dist=269358;dist=472912 NA NA ncRNA_exonic ENSG00000224861 NA NA NA Score=840;Name=lod=3458 NA 14q23.3 NA NA NA NA rs3888365 0.28 0.28 0.245 0.30012 0.2346 0.1716 0.2867 0.5431 0.181 0.24 0.13 0.27 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.799999 1.799999 NA NA NA NA 0.087 NA 4.7654 1175 14 100405757 100405757 C T intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA Name=EBF1_(C-8),EBF NA NA rs2236282 0.34 0.34 0.356 0.369409 0.2346 0.3393 0.3847 0.5189 0.3262 0.23 0.35 0.35 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08323 NA NA NA NA NA 0.377 NA 4.7654 1175 19 51261951 51261951 G T intergenic CLEC11A,GPR32 dist=32970;dist=11770 NA NA ncRNA_exonic ENSG00000269565 NA NA NA Score=363;Name=lod=40 NA 19q13.33 NA NA NA NA rs11880363 0.31 0.31 0.309 0.353235 0.2346 0.2758 0.2176 0.5575 0.3753 0.23 0.26 0.24 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.254359 1.254359 0.02 NA NA NA 0.355 NA 4.7654 1175 21 43221983 43221983 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA Name=4 NA rs2236697 0.25 0.25 0.239 0.275559 0.2346 0.3313 0.2277 0.1793 0.4243 0.22 0.35 0.23 0.19 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570972 NA NA NA NA NA 0.355 NA 4.7654 1176 11 9981297 9981297 C T intronic SBF2 NA NA NA ncRNA_exonic ENSG00000254765 NA NA NA Score=599;Name=lod=361 NA 11p15.4 NA NA NA NA rs4910085 0.5 0.5 0.487 0.483427 0.5686 0.3889 0.6455 0.3525 0.5552 0.58 0.42 0.61 0.38 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159885 NA NA NA NA NA 0.457 NA 4.7647333 1176 21 40860510 40860510 T C intronic SH3BGR NA NA NA ncRNA_exonic ENSG00000235808 NA NA NA Score=636;Name=lod=513 NA 21q22.2 NA NA NA NA rs3787927 0.57 0.57 0.574 0.585064 0.5686 0.6915 0.6311 0.4788 0.6033 0.56 0.68 0.6 0.43 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090881 NA NA NA NA NA 0.717 NA 4.7647333 1176 21 40863714 40863714 C T intronic SH3BGR NA NA NA ncRNA_exonic ENSG00000228349 NA NA NA Score=698;Name=lod=915 NA 21q22.2 NA NA NA NA rs9976202 0.57 0.57 0.568 0.582069 0.5686 0.6915 0.6311 0.4675 0.6033 0.56 0.68 0.6 0.43 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067839 NA NA NA NA NA 0.717 NA 4.7647333 1176 3 184577917 184577917 A G intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA Name=c-Jun,JunD NA NA rs7340698 0.35 0.35 0.324 0.349241 0.2356 0.6131 0.3314 0.1899 0.4223 0.24 0.6 0.35 0.23 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431692 NA NA NA NA NA 0.413 NA 4.7644 1176 12 57849768 57849768 C G intronic INHBE NA NA NA intronic ENSG00000139269 NA NA NA NA NA 12q13.3 NA Name=Pol2 NA NA rs507562 0.33 0.33 0.323 0.3752 0.2356 0.3313 0.2867 0.5 0.4581 0.23 0.32 0.28 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.4367 NA NA NA NA NA 0.341 NA 4.7644 1176 14 81422257 81422257 G C intronic TSHR NA NA NA intronic ENSG00000100629,ENSG00000165409 NA NA NA NA NA 14q31.1 NA NA Name=6 NA rs2239610 0.22 0.22 0.207 0.195687 0.2356 0.1994 0.2939 0.0817 0.2352 0.24 0.24 0.26 0.12 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464472 NA NA NA NA NA 0.297 NA 4.7644 1176 22 22533579 22533579 T C intergenic TOP3B,VPREB1 dist=196432;dist=65621 NA NA upstream ENSG00000254308 NA NA NA Score=385;Name=lod=49 NA 22q11.22 NA Name=MafK_(SC-477),MafF_(M8194),PU.1,ELF1_(SC-631),MafK_(ab50322) NA NA rs5750674 0.73 0.73 0.71 0.702476 0.7356 0.7808 0.7867 0.5582 0.7229 0.74 0.79 0.75 0.62 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747288 NA NA NA NA NA 0.703 NA 4.7644 1176 14 21993498 21993498 G A exonic SALL2 NA nonsynonymous SNV SALL2:NM_005407:exon2:c.C364T:p.P122S exonic ENSG00000165821 NA nonsynonymous SNV ENSG00000165821:ENST00000317492:exon2:c.C364T:p.P122S,ENSG00000165821:ENST00000327430:exon2:c.C364T:p.P122S,ENSG00000165821:ENST00000450879:exon2:c.C358T:p.P120S,ENSG00000165821:ENST00000537235:exon2:c.C358T:p.P120S,ENSG00000165821:ENST00000538754:exon2:c.C358T:p.P120S,ENSG00000165821:ENST00000541965:exon2:c.C178T:p.P60S NA NA 14q11.2 NA NA NA NA rs1263811 0.81 0.81 0.776 0.798922 0.8579 0.8185 0.8631 0.6815 0.8313 0.87 0.8 0.86 0.69 0.8467 0.87 0.92 T 0.0 B 0.0 B 0.294 N 1.000 P -1.67 N 3.86 T -1.002 T 0.000 T 0.167 -2.113 0.006 0.975 0.075 0.023 8.416 -2.11311 NA 0.7 0.864535 0.706083 NA 0.696 NA 4.7641984 1176 16 2512523 2512523 G A exonic C16orf59 NA synonymous SNV C16orf59:NM_025108:exon7:c.G858A:p.S286S exonic ENSG00000162062 NA synonymous SNV ENSG00000162062:ENST00000568753:exon4:c.G120A:p.S40S,ENSG00000162062:ENST00000483320:exon6:c.G357A:p.S119S,ENSG00000162062:ENST00000567489:exon6:c.G759A:p.S253S,ENSG00000162062:ENST00000361837:exon7:c.G858A:p.S286S,ENSG00000162062:ENST00000563531:exon7:c.G858A:p.S286S,ENSG00000162062:ENST00000569496:exon7:c.G858A:p.S286S NA NA 16p13.3 NA NA NA NA rs3810794 0.31 0.31 0.258 0.283147 0.3052 0.6111 0.3357 0.0182 0.2434 0.31 0.59 0.27 0.02 0.3245 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00224 NA NA 0.273158 0.056845 NA 0.21 NA 4.7638086 1176 17 78727734 78727734 T C intronic RPTOR NA NA NA intronic ENSG00000141564 NA NA NA NA NA 17q25.3 NA NA Name=6 NA rs12944923 0.2 0.2 0.184 0.16873 0.2366 0.2341 0.1729 0.0333 0.2117 0.25 0.26 0.19 0.06 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384597 NA NA NA NA NA 0.21 NA 4.7634 1176 17 986742 986742 A G intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA Name=ZNF263 Name=7 NA rs2257468 0.43 0.43 0.419 0.461462 0.4235 0.4881 0.3372 0.4327 0.6002 0.42 0.51 0.36 0.4 0.4281 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.338495 1.338495 NA 0.385233 0.410803 NA 0.304 NA 4.763167 1176 20 60971510 60971510 T C intronic CABLES2 NA NA NA intronic ENSG00000149679 NA NA NA NA NA 20q13.33 NA NA Name=9 NA rs61744285 0.07 0.07 0.055 0.10623 0.0815 0.0089 0.0519 0.1256 0.2444 0.09 0.01 0.05 0.13 0.0878 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.16062 2.16062 NA 0.068256 0.095778 ID=COSN145344;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) 0.123 NA 4.762444 1176 3 119354550 119354550 T C intergenic PLA1A,POPDC2 dist=5892;dist=6358 NA NA ncRNA_exonic ENSG00000242052 NA NA NA Score=760;Name=lod=1630 NA 3q13.33 NA NA NA NA rs71325389 0.21 0.21 0.163 0.183107 0.2376 0.247 0.304 0.031 0.181 0.23 0.28 0.3 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.011411 NA NA NA NA NA 0.188 NA 4.7624 1176 17 18554229 18554229 T C intergenic TBC1D28,ZNF286B dist=6489;dist=7513 NA NA ncRNA_exonic ENSG00000174977 NA NA NA Score=591;Name=lod=337 NA 17p11.2 NA NA NA NA rs3752015 0.45 0.45 0.425 0.503395 0.2376 0.7569 0.4654 0.4977 0.5501 0.24 0.73 0.39 0.51 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.735989 1.735989 NA NA NA NA 0.464 NA 4.7624 1176 19 9301994 9301994 G T intergenic OR7D2,OR7D4 dist=2501;dist=22532 NA NA ncRNA_exonic ENSG00000267775 NA NA NA Score=313;Name=lod=25 NA 19p13.2 NA NA NA NA rs2005850 0.19 0.19 0.182 0.191294 0.2376 0.2391 0.1484 0.0703 0.2883 0.23 0.26 0.16 0.06 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083264 NA NA NA NA NA 0.167 NA 4.7624 1176 8 23423758 23423758 G A exonic SLC25A37 NA synonymous SNV SLC25A37:NM_016612:exon2:c.G348A:p.P116P exonic ENSG00000147454 NA synonymous SNV ENSG00000147454:ENST00000290075:exon2:c.G348A:p.P116P,ENSG00000147454:ENST00000417331:exon2:c.G348A:p.P116P,ENSG00000147454:ENST00000519973:exon2:c.G348A:p.P116P,ENSG00000147454:ENST00000523930:exon2:c.G291A:p.P97P NA NA 8p21.2 Score=784;Name=V$PAX5_01 NA NA NA rs10992 0.45 0.45 0.398 0.405551 0.6551 0.372 0.5317 0.1036 0.502 0.68 0.32 0.59 0.13 0.5688 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152062 NA NA 0.680532 0.230551 NA 0.464 NA 4.7622346 1176 6 33740382 33740382 G A UTR3 LEMD2 NM_181336:c.*23C>T,NM_001143944:c.*23C>T NA NA UTR3 ENSG00000161904 ENST00000293760:c.*23C>T,ENST00000506578:c.*23C>T,ENST00000421671:c.*796C>T,ENST00000508327:c.*23C>T NA NA NA NA 6p21.31 NA Name=GATA-2,ERalpha_a,c-Fos Name=56 NA rs2296744 0.49 0.49 0.459 0.485423 0.499 0.7847 0.4395 0.1732 0.6176 0.52 0.78 0.42 0.16 0.5356 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224532 NA NA 0.53686 0.232289 NA 0.522 NA 4.7618734 1176 19 52472295 52472295 A G exonic ZNF350 NA synonymous SNV ZNF350:NM_021632:exon3:c.T105C:p.D35D exonic ENSG00000256683 NA synonymous SNV ENSG00000256683:ENST00000243644:exon3:c.T105C:p.D35D,ENSG00000256683:ENST00000593596:exon3:c.T105C:p.D35D,ENSG00000256683:ENST00000597788:exon3:c.T105C:p.D35D,ENSG00000256683:ENST00000594929:exon4:c.T105C:p.D35D NA NA 19q13.41 NA NA NA NA rs4986773 0.38 0.38 0.366 0.457867 0.2962 0.2966 0.3012 0.6762 0.6063 0.31 0.27 0.33 0.67 0.3438 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.275698 NA NA 0.264884 0.624603 NA 0.428 NA 4.7617826 1176 1 164326589 164326589 T G intergenic NUF2,PBX1 dist=1001036;dist=202008 NA NA ncRNA_exonic ENSG00000213070 NA NA NA Score=554;Name=lod=238 NA 1q23.3 NA NA NA NA rs34663453 0.16 0.16 0.133 0.157748 0.2386 0.0208 0.1354 0.1891 0.1892 0.24 0.02 0.12 0.2 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311056 NA NA NA NA NA 0.167 NA 4.7614 1176 1 224762167 224762167 C T intergenic WDR26,CNIH3 dist=140166;dist=42012 NA NA ncRNA_exonic ENSG00000229991 NA NA NA Score=440;Name=lod=82 NA 1q42.12 NA NA NA NA rs6426141 0.32 0.32 0.328 0.305711 0.2386 0.3869 0.245 0.3759 0.2393 0.24 0.41 0.22 0.4 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500439 NA NA NA NA NA 0.464 NA 4.7614 1176 3 184567039 184567039 C A intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA Name=CEBPB NA NA rs2305240 0.37 0.37 0.342 0.383187 0.2386 0.6101 0.3386 0.292 0.453 0.24 0.58 0.37 0.32 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.997388 NA NA NA NA NA 0.428 NA 4.7614 1176 2 132275396 132275396 T C ncRNA_exonic LOC150776 NA NA NA ncRNA_exonic ENSG00000152117 NA NA NA Score=644;Name=lod=552 NA 2q21.1 NA NA NA NA rs2277878 0.57 0.57 0.543 0.58127 0.4304 0.7599 0.6052 0.6218 0.4806 0.39 0.76 0.56 0.63 0.4755 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.070433 NA NA NA NA NA 0.5 NA 4.7607666 1176 8 134015166 134015166 T G intronic TG NA NA NA ncRNA_exonic ENSG00000240237 NA NA NA Score=708;Name=lod=1006 NA 8q24.22 NA NA NA NA rs871402 0.49 0.49 0.499 0.477835 0.5726 0.1766 0.4207 0.7648 0.3436 0.56 0.17 0.48 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005082 NA NA NA NA NA 0.551 NA 4.7607333 1176 13 20413151 20413151 C A intronic ZMYM5 NA NA NA intronic ENSG00000132950 NA NA NA NA NA 13q12.11 NA Name=GATA-1 NA NA rs61563111 0.09 0.09 0.088 0.0972444 0.0924 0.0813 0.0735 0.1687 0.0389 0.08 0.06 0.07 0.14 0.079 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062523 NA NA 0.068023 0.158254 NA 0.167 NA 4.760577 1176 19 16192898 16192898 A G intronic TPM4 NA NA NA intronic ENSG00000167460 NA NA NA NA NA 19p13.12 NA Name=FOXA1_(C-20),ERalpha_a,Pol2-4H8,FOXA2_(SC-6554),FOXA1_(SC-101058),Pol2 Name=3 NA rs3826722 0.51 0.51 0.511 0.505192 0.3926 0.7192 0.3948 0.4924 0.4959 0.39 0.73 0.41 0.5 0.4429 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249981 NA NA 0.40407 0.453203 NA 0.551 NA 4.76043 1176 1 94360107 94360107 C A intronic GCLM NA NA NA intronic ENSG00000023909 NA NA NA Score=259;Name=lod=15 NA 1p22.1 NA NA NA NA rs769211 0.25 0.25 0.234 0.21905 0.2396 0.1647 0.3718 0.2489 0.1053 0.23 0.19 0.35 0.28 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218503 NA NA NA NA NA 0.116 NA 4.7604 1176 5 65867918 65867918 C T intergenic SREK1,MAST4 dist=388474;dist=24258 NA NA ncRNA_exonic ENSG00000234838 NA NA NA Score=419;Name=lod=67 NA 5q12.3 NA NA NA NA rs11955611 0.3 0.3 0.28 0.309105 0.2396 0.3958 0.3141 0.2534 0.363 0.24 0.41 0.3 0.26 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314206 NA NA NA NA NA 0.246 NA 4.7604 1176 15 48755168 48755168 T C intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA Name=9 NA rs9806595 0.34 0.34 0.347 0.337859 0.2396 0.3036 0.2536 0.5961 0.1851 0.24 0.34 0.21 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829495 NA NA NA NA NA 0.304 NA 4.7604 1176 20 32333181 32333181 G T intronic ZNF341 NA NA NA intronic ENSG00000131061 NA NA NA NA Name=Height 20q11.22 NA NA NA NA rs7274811 0.25 0.25 0.242 0.229233 0.2396 0.249 0.3213 0.1944 0.18 0.25 0.25 0.3 0.22 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362186 NA NA NA NA NA 0.21 NA 4.7604 1176 17 78083726 78083726 A G intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA Name=JunD Name=9 NA rs2278619 0.69 0.69 0.701 0.711661 0.7604 0.6488 0.5634 0.7118 0.8313 0.76 0.66 0.57 0.7 0.7312 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341062 NA NA 0.748605 0.694281 NA 0.717 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078156.1;CLNDSDB=.;CLNDSDBID=. 4.759795 1176 8 48423840 48423840 G A intronic KIAA0146 NA NA NA ncRNA_exonic ENSG00000253330 NA NA NA NA NA 8q11.21 NA Name=CTCF NA NA rs12544329 0.47 0.47 0.43 0.373602 0.5736 0.627 0.4885 0.0401 0.2761 0.58 0.66 0.48 0.05 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.997949 NA NA NA NA NA 0.457 NA 4.7597333 1176 2 28843871 28843871 G C intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA Name=BAF155 NA NA rs35800423 0.05 0.05 0.038 0.0307508 0.0885 NA 0.0447 0.0053 0.0276 0.09 NA 0.07 0.01 0.0609 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171698 NA NA 0.09093 0.017022 NA 0.007 NA 4.75967 1176 21 47545676 47545676 G C intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs78764604 0.04 0.04 0.038 0.0249601 0.0895 NA 0.0346 0.0023 0.0082 0.08 NA 0.05 0.02 0.0604 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505753 NA NA 0.09057 0.017524 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079865.1;CLNDSDB=.;CLNDSDBID=. 4.75953 1176 17 16734869 16734869 A G ncRNA_exonic KRT16P2 NA NA NA ncRNA_exonic ENSG00000227300 NA NA NA Score=612;Name=lod=408 NA 17p11.2 NA NA NA NA rs2688009 0.93 0.93 0.94 NA NA NA NA NA NA 0.85 1 0.91 0.98 0.9072 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784498 NA NA NA NA NA NA NA 4.7594666 1176 8 72981327 72981327 A G exonic TRPA1 NA synonymous SNV TRPA1:NM_007332:exon3:c.T375C:p.N125N exonic ENSG00000104321 NA synonymous SNV ENSG00000104321:ENST00000262209:exon3:c.T375C:p.N125N Score=458;Name=lod=97 NA 8q13.3 NA NA NA NA rs1811457 0.8 0.8 0.775 0.806909 0.6074 0.9752 0.7608 0.8964 0.7505 0.62 0.99 0.74 0.9 0.6981 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136783 NA NA 0.601744 0.868134 NA 0.761 NA 4.7594226 1176 8 39114949 39114949 C T intronic ADAM32 NA NA NA intronic ENSG00000197140 NA NA NA NA NA 8p11.22 NA NA Name=3 NA rs73608630 0.23 0.23 0.216 0.220447 0.2406 0.2857 0.2118 0.1558 0.226 0.25 0.26 0.23 0.16 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333519 NA NA NA NA NA 0.174 NA 4.7594 1176 11 121448183 121448183 C G intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA Name=3 NA rs3824966 0.32 0.32 0.26 0.340655 0.2406 0.5665 0.438 0.0802 0.4939 0.24 0.58 0.36 0.11 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345683 NA NA NA NA NA 0.297 NA 4.7594 1176 19 45991636 45991636 G C intronic RTN2 NA NA NA intronic ENSG00000125744 NA NA NA Score=243;Name=lod=13 NA 19q13.32 NA NA NA NA rs1603 0.22 0.22 0.203 0.201877 0.2406 0.2808 0.2305 0.1702 0.1033 0.23 0.28 0.24 0.14 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.452253 4.452253 NA NA NA NA 0.188 NA 4.7594 1176 7 5568366 5568366 A G intronic ACTB NA NA NA intronic ENSG00000075624 NA NA NA NA NA 7p22.1 NA Name=Pol2,BCLAF1_(M33-P5B11),ETS1,ZBTB33,POU2F2,Oct-2,Pol2-4H8,Sin3Ak-20,JunD,Pol2(b),HEY1 Name=132 NA rs852423 0.44 0.44 0.443 0.479832 0.3767 0.2798 0.4135 0.8124 0.3896 0.37 0.24 0.46 0.77 0.4408 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.737812 NA NA 0.423819 0.727871 NA 0.457 NA 4.758681 1176 3 101318318 101318318 G T intergenic PCNP,ZBTB11 dist=5037;dist=49965 NA NA ncRNA_exonic ENSG00000243396 NA NA NA Score=701;Name=lod=943 NA 3q12.3 NA NA NA NA rs17345786 0.24 0.24 0.227 0.233626 0.2416 0.2708 0.2507 0.2224 0.1902 0.23 0.28 0.23 0.21 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.472202 1.472202 NA NA NA NA 0.188 NA 4.7584 1176 6 31248204 31248204 G A intergenic HLA-C,HLA-B dist=8291;dist=73445 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs2524062 0.28 0.28 0.238 0.23103 0.2416 0.3552 0.2738 0.1762 0.136 0.26 0.36 0.29 0.2 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158317 NA NA NA NA NA 0.239 NA 4.7584 1176 9 65632051 65632051 C T intergenic SPATA31A5,PTGER4P2-CDK2AP2P2 dist=122441;dist=862218 NA NA ncRNA_exonic ENSG00000237792 NA NA NA Score=509;Name=lod=156 NA 9q12 NA NA NA NA rs12684652 0.23 0.23 0.162 0.204273 0.2416 0.3065 0.2104 0.1309 0.1554 0.22 0.36 0.19 0.12 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798333 NA NA NA NA NA 0.014 NA 4.7584 1176 10 129207514 129207514 G A intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA Name=CTCF NA NA rs2296629 0.3 0.3 0.287 0.288738 0.2416 0.4454 0.3761 0.1407 0.3139 0.24 0.46 0.33 0.16 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230485 NA NA NA NA NA 0.232 NA 4.7584 1176 19 41518773 41518773 C T intronic CYP2B6 NA NA NA intronic ENSG00000197408 NA NA NA NA NA 19q13.2 NA Name=CTCF NA NA rs8192719 0.27 0.27 0.278 0.316893 0.2416 0.2163 0.3718 0.3744 0.3814 0.24 0.18 0.36 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908416 NA NA NA NA NA 0.246 NA 4.7584 1176 21 36080398 36080398 T C intronic CLIC6 NA NA NA intronic ENSG00000159212 NA NA NA NA NA 21q22.12 NA Name=BATF,BCLAF1_(M33-P5B11),MEF2A,PU.1,SP1,PAX5-C20,PAX5-N19,NFKB,Egr-1 Name=10 NA rs2070368 0.44 0.44 0.422 0.434704 0.4105 0.62 0.5072 0.2141 0.5153 0.41 0.63 0.49 0.24 0.4329 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210558 NA NA 0.398488 0.232183 NA 0.341 NA 4.758112 1176 4 2178127 2178127 T G intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA Name=3 NA rs6599412 0.34 0.34 0.343 0.363219 0.1262 0.373 0.2565 0.7186 0.1922 0.13 0.37 0.26 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523201 NA NA 0.115965 0.635116 NA 0.406 NA 4.757835 1176 1 146554322 146554322 C A intergenic LOC728989,PRKAB2 dist=39723;dist=72363 NA NA ncRNA_exonic ENSG00000230832 NA NA NA Score=632;Name=lod=493 NA 1q21.1 NA NA NA NA rs71510558 0.14 0.14 0.136 0.114018 0.2425 0.0258 0.121 0.1165 0.0644 0.25 0.02 0.15 0.11 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.276879 NA NA NA NA NA 0.159 NA 4.7575 1176 22 22584255 22584255 C T intergenic TOP3B,VPREB1 dist=247108;dist=14945 NA NA ncRNA_exonic ENSG00000234726 NA NA NA NA NA 22q11.22 NA Name=PU.1 NA NA rs5750778 0.28 0.28 0.255 0.278554 0.2425 0.3244 0.3386 0.2436 0.273 0.25 0.32 0.33 0.25 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.277211 1.277211 NA NA NA NA 0.203 NA 4.7575 1176 1 1225553 1225553 C T intronic SCNN1D NA NA NA intronic ENSG00000162572 NA NA NA Score=289;Name=lod=20 NA 1p36.33 NA NA NA NA rs5026410 NA NA 0.179 0.406949 0.2435 0.4911 0.3977 0.5439 0.3098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455206 NA NA NA NA NA NA NA 4.7565 1176 5 138148064 138148064 T C intronic CTNNA1 NA NA NA intronic ENSG00000044115 NA NA NA Score=259;Name=lod=15 NA 5q31.2 NA NA NA NA rs13154573 0.14 0.14 0.12 0.134585 0.2435 0.004 0.2147 0.0416 0.226 0.25 0.0017 0.22 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.527171 2.527171 NA NA NA NA 0.152 NA 4.7565 1176 17 78950536 78950536 A G intergenic RPTOR,CHMP6 dist=10363;dist=15105 NA NA ncRNA_exonic ENSG00000240270 NA NA NA Score=708;Name=lod=1006 NA 17q25.3 NA NA NA NA rs11658452 0.18 0.18 0.163 0.184105 0.2435 0.2292 0.2305 0.0325 0.2485 0.24 0.22 0.22 0.03 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21806 NA NA NA NA NA 0.145 NA 4.7565 1176 5 78351636 78351636 A C exonic DMGDH NA synonymous SNV DMGDH:NM_013391:exon3:c.T372G:p.G124G exonic ENSG00000132837 NA synonymous SNV ENSG00000132837:ENST00000255189:exon3:c.T372G:p.G124G Score=439;Name=lod=81 NA 5q14.1 NA NA NA NA rs2253262 0.65 0.65 0.642 0.650559 0.6262 0.7817 0.6455 0.5938 0.6207 0.61 0.78 0.67 0.55 0.6448 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.377737 1.377737 NA 0.6396 0.612171 NA 0.543 NA 4.7560666 1176 19 965043 965043 T C exonic ARID3A NA synonymous SNV ARID3A:NM_005224:exon6:c.T1161C:p.N387N exonic ENSG00000116017 NA synonymous SNV ENSG00000116017:ENST00000587532:exon4:c.T702C:p.N234N,ENSG00000116017:ENST00000263620:exon6:c.T1161C:p.N387N Score=545;Name=lod=218 NA 19p13.3 Score=930;Name=V$NFY_Q6 NA NA NA rs12608658 0.94 0.94 0.939 0.938898 0.9761 1 0.9107 0.8654 0.9571 0.98 1 0.91 0.85 0.9575 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182953 NA NA 0.977093 0.892192 NA 0.949 NA 4.7559736 1176 15 90334240 90334240 A G exonic ANPEP NA synonymous SNV ANPEP:NM_001150:exon19:c.T2613C:p.I871I exonic ENSG00000166825 NA synonymous SNV ENSG00000166825:ENST00000300060:exon19:c.T2613C:p.I871I NA NA 15q26.1 NA NA NA NA rs25654 0.29 0.29 0.289 0.313498 0.2952 0.2341 0.2493 0.3812 0.3681 0.29 0.25 0.25 0.35 0.2979 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.920067 NA NA 0.317981 0.36 NA 0.42 NA 4.7555856 1176 1 179556174 179556174 T C intergenic NPHS2,TDRD5 dist=11090;dist=4574 NA NA ncRNA_exonic ENSG00000227141 NA NA NA Score=764;Name=lod=1703 NA 1q25.2 NA NA NA NA rs12121642 0.15 0.15 0.158 0.141174 0.2445 0.1062 0.1354 0.1142 0.1115 0.24 0.08 0.17 0.09 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300557 NA NA NA NA NA 0.138 NA 4.7555 1176 1 179556848 179556848 T A intergenic NPHS2,TDRD5 dist=11764;dist=3900 NA NA ncRNA_exonic ENSG00000227141 NA NA NA Score=560;Name=lod=251 NA 1q25.2 NA NA NA NA rs7549026 0.15 0.15 0.147 0.141174 0.2445 0.1062 0.1354 0.1142 0.1115 0.24 0.08 0.17 0.09 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050423 NA NA NA NA NA 0.138 NA 4.7555 1176 1 203800735 203800735 G C intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 Score=912;Name=V$ATF6_01 NA NA NA rs2275325 0.26 0.26 0.229 0.273562 0.2445 0.3244 0.3761 0.1694 0.319 0.25 0.34 0.33 0.13 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747398 NA NA NA NA NA 0.239 NA 4.7555 1176 19 11114206 11114206 C T intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 Score=970;Name=V$P53_02 NA NA NA rs17766161 0.19 0.19 0.186 0.185703 0.2445 0.2183 0.1571 0.0552 0.2883 0.24 0.23 0.2 0.06 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042238 NA NA NA NA NA 0.145 NA 4.7555 1176 12 56510637 56510637 A G intronic RPL41 NA NA NA intronic ENSG00000229117 NA NA NA NA NA 12q13.2 NA Name=YY1_(C-20),IRF4_(M-17),NELFe,Pol2,TAF1,STAT1,Sin3Ak-20,Pol2-4H8,ZNF263,YY1,eGFP-JunB,Pol2(b),c-Myc,NFKB,HEY1 NA NA rs1689512 0.17 0.17 0.176 0.203674 0.1262 0.0536 0.1383 0.4871 0.1012 0.13 0.04 0.12 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206629 NA NA 0.118479 0.41763 NA 0.225 NA 4.755321 1177 21 43327856 43327856 A G exonic C2CD2 NA synonymous SNV C2CD2:NM_199050:exon8:c.T591C:p.F197F,C2CD2:NM_015500:exon9:c.T1056C:p.F352F exonic ENSG00000157617 NA synonymous SNV ENSG00000157617:ENST00000329623:exon8:c.T591C:p.F197F,ENSG00000157617:ENST00000380486:exon9:c.T1056C:p.F352F Score=444;Name=lod=85 NA 21q22.3 NA NA NA NA rs3746906 0.63 0.63 0.634 0.607428 0.6491 0.5923 0.5159 0.6248 0.6217 0.65 0.63 0.55 0.64 0.6182 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189021 NA NA 0.644535 0.614389 NA 0.529 NA 4.7548316 1177 14 107108288 107108288 G A intergenic LINC00221,NONE dist=156759;dist=NONE NA NA ncRNA_exonic ENSG00000253936 NA NA NA Score=489;Name=lod=130 NA 14q32.33 NA NA NA NA rs8008811 0.35 0.35 0.32 0.389976 0.2455 0.3403 0.3012 0.4418 0.5828 0.27 0.36 0.37 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58528 NA NA NA NA NA 0.341 NA 4.7545 1177 18 12092170 12092170 G A intergenic IMPA2,ANKRD62 dist=61285;dist=1678 NA NA ncRNA_exonic ENSG00000267478 NA NA NA Score=496;Name=lod=138 NA 18p11.21 NA NA NA NA rs11080540 0.4 0.4 0.386 0.400559 0.2455 0.5526 0.3718 0.4887 0.3047 0.24 0.55 0.38 0.49 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345608 NA NA NA NA NA 0.348 NA 4.7545 1177 1 229567663 229567663 C G intronic ACTA1 NA NA NA intronic ENSG00000143632 NA NA NA NA NA 1q42.13 NA NA NA NA rs6673359 0.25 0.25 0.106 0.139377 0.0099 0.003 0.1988 0.3964 0.0235 0.16 0.15 0.24 0.52 0.2027 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.679614 NA NA 0.03314 0.352861 NA 0.065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079468.1;CLNDSDB=.;CLNDSDBID=. 4.75426 1177 19 1360082 1360082 G A intronic MUM1 NA NA NA intronic ENSG00000160953 NA NA NA NA NA 19p13.3 NA NA Name=10 NA rs8109377 0.09 0.09 0.091 0.101438 0.1223 0.0149 0.0922 0.1399 0.1237 0.13 0.02 0.08 0.09 0.1239 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43194 NA NA NA NA NA 0.094 NA 4.7538 1177 3 142895926 142895926 G A intergenic CHST2,SLC9A9 dist=53070;dist=88138 NA NA ncRNA_exonic ENSG00000244171 NA NA NA Score=831;Name=lod=3187 NA 3q24 NA NA NA NA rs10049327 0.2 0.2 0.2 0.18131 0.2465 0.0466 0.1599 0.3026 0.1043 0.25 0.04 0.18 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511637 NA NA NA NA NA 0.174 NA 4.7535 1177 8 4985852 4985852 T C intergenic CSMD1,LOC100287015 dist=133524;dist=1275225 NA NA ncRNA_exonic ENSG00000206661 NA NA NA Score=514;Name=lod=163 NA 8p23.2 NA NA NA NA rs11776268 0.21 0.21 0.218 0.222045 0.2465 0.0258 0.1888 0.4032 0.1779 0.25 0.03 0.22 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904962 NA NA NA NA NA 0.174 NA 4.7535 1177 10 54172611 54172611 C T intergenic DKK1,MBL2 dist=95194;dist=352529 NA NA ncRNA_exonic ENSG00000227972 NA NA NA Score=401;Name=lod=57 NA 10q21.1 NA NA NA NA rs10824469 0.52 0.52 0.519 0.579273 0.2465 0.8542 0.3559 0.7731 0.5348 0.23 0.84 0.33 0.73 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.706795 NA NA NA NA NA 0.478 NA 4.7535 1177 10 54172769 54172769 G A intergenic DKK1,MBL2 dist=95352;dist=352371 NA NA ncRNA_exonic ENSG00000227972 NA NA NA Score=675;Name=lod=741 NA 10q21.1 NA NA NA NA rs7073271 0.52 0.52 0.492 0.579273 0.2465 0.8542 0.3559 0.7731 0.5348 0.23 0.84 0.33 0.73 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023753 NA NA NA NA NA 0.486 NA 4.7535 1177 12 55805647 55805647 A G intergenic OR6C65,OR6C76 dist=10396;dist=14391 NA NA ncRNA_exonic ENSG00000179899 NA NA NA Score=634;Name=lod=503 NA 12q13.2 NA NA NA NA rs12825123 0.2 0.2 0.169 0.21226 0.2465 0.1071 0.2435 0.18 0.3067 0.26 0.09 0.24 0.2 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049904 NA NA NA NA NA 0.217 NA 4.7535 1177 14 107108599 107108599 T C intergenic LINC00221,NONE dist=157070;dist=NONE NA NA ncRNA_intronic ENSG00000253936 NA NA NA NA NA 14q32.33 NA Name=NFKB,MEF2A NA NA rs11161000 0.36 0.36 0.332 0.41873 0.2465 0.3383 0.304 0.5507 0.5818 0.26 0.35 0.32 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376673 NA NA NA NA NA 0.406 NA 4.7535 1177 X 2632482 2632482 C T exonic CD99 NA synonymous SNV CD99:NM_001122898:exon2:c.C87T:p.S29S,CD99:NM_001277710:exon2:c.C87T:p.S29S,CD99:NM_002414:exon2:c.C87T:p.S29S exonic ENSG00000002586 NA synonymous SNV ENSG00000002586:ENST00000381184:exon2:c.C87T:p.S29S,ENSG00000002586:ENST00000381187:exon2:c.C87T:p.S29S,ENSG00000002586:ENST00000381192:exon2:c.C87T:p.S29S,ENSG00000002586:ENST00000449611:exon2:c.C216T:p.S72S NA NA Xp22.33 NA NA NA NA rs17849631 0.35 0.35 0.34499 NA NA NA NA NA NA 0.52 0.37 0.39 0.04 0.4093 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918235 NA NA 0.50419 0.103041 NA 0.232 NA 4.7531766 1177 16 71319539 71319539 C T exonic FTSJD1 NA synonymous SNV FTSJD1:NM_001099642:exon3:c.G285A:p.A95A,FTSJD1:NM_018348:exon3:c.G285A:p.A95A exonic ENSG00000180917 NA synonymous SNV ENSG00000180917:ENST00000564183:exon2:c.G285A:p.A95A,ENSG00000180917:ENST00000565850:exon2:c.G285A:p.A95A,ENSG00000180917:ENST00000567610:exon2:c.G285A:p.A95A,ENSG00000180917:ENST00000338099:exon3:c.G285A:p.A95A,ENSG00000180917:ENST00000434935:exon3:c.G285A:p.A95A,ENSG00000180917:ENST00000563876:exon3:c.G285A:p.A95A Score=502;Name=lod=146 NA 16q22.2 NA NA NA NA rs3826247 0.51 0.51 0.494 0.462061 0.675 0.245 0.6628 0.3714 0.4468 0.7 0.27 0.65 0.4 0.5864 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157626 NA NA 0.652209 0.401729 NA 0.594 NA 4.7530576 1177 7 150324825 150324825 C T exonic GIMAP6 NA synonymous SNV GIMAP6:NM_001244072:exon3:c.G1071A:p.L357L,GIMAP6:NM_024711:exon3:c.G861A:p.L287L exonic ENSG00000133561 NA synonymous SNV ENSG00000133561:ENST00000328902:exon3:c.G861A:p.L287L NA NA 7q36.1 NA NA NA NA rs3735084 0.3 0.3 0.302 0.284345 0.3091 0.2956 0.2507 0.2829 0.273 0.3 0.34 0.27 0.29 0.298 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14129 NA NA 0.306512 0.286655 ID=COSM150419;OCCURENCE=1(stomach) 0.246 NA 4.7530546 1177 17 76130947 76130947 G T intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA Name=ELF1_(SC-631) NA NA rs62079073 0.09 0.09 0.095 0.0776757 0.0875 0.0804 0.0677 0.0953 0.0481 0.09 0.09 0.09 0.1 0.0783 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935028 NA NA 0.081279 0.085565 NA 0.043 NA 4.752921 1177 7 11046310 11046310 C T intronic PHF14 NA NA NA ncRNA_exonic ENSG00000230370 NA NA NA Score=715;Name=lod=1070 NA 7p21.3 NA NA NA NA rs220090 0.33 0.33 0.317 0.333466 0.5805 0.1478 0.3458 0.1558 0.502 0.56 0.15 0.38 0.13 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170243 NA NA NA NA NA 0.275 NA 4.7528333 1177 20 43933163 43933163 T C exonic MATN4 NA synonymous SNV MATN4:NM_003833:exon3:c.A348G:p.A116A,MATN4:NM_030590:exon3:c.A348G:p.A116A,MATN4:NM_030592:exon3:c.A348G:p.A116A exonic ENSG00000124159 NA synonymous SNV ENSG00000124159:ENST00000372754:exon2:c.A348G:p.A116A,ENSG00000124159:ENST00000372756:exon2:c.A348G:p.A116A,ENSG00000124159:ENST00000342716:exon3:c.A348G:p.A116A,ENSG00000124159:ENST00000353917:exon3:c.A348G:p.A116A,ENSG00000124159:ENST00000360607:exon3:c.A348G:p.A116A,ENSG00000124159:ENST00000537548:exon4:c.A348G:p.A116A NA NA 20q13.12 NA NA NA NA rs2233094 0.38 0.38 0.336 0.403554 0.2634 0.755 0.3444 0.2239 0.4703 0.26 0.73 0.34 0.2 0.374 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.622237 1.622237 NA 0.276573 0.224067 ID=COSM443892;OCCURENCE=1(breast) 0.275 NA 4.7526936 1177 22 27283521 27283521 T C intergenic MIAT,MN1 dist=211081;dist=860744 NA NA upstream ENSG00000231369 NA NA NA Score=655;Name=lod=614 NA 22q12.1 NA NA Name=90 NA rs1807676 0.78 0.78 0.75 0.75639 0.7475 0.8413 0.8285 0.7156 0.682 0.74 0.84 0.8 0.73 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264532 NA NA NA NA NA 0.775 NA 4.7525 1177 16 55513623 55513623 C T intronic MMP2 NA NA NA intronic ENSG00000087245 NA NA NA NA NA 16q12.2 NA NA Name=7 NA rs243862 0.15 0.15 0.111 0.134185 0.2475 0.0992 0.232 0.031 0.1237 0.26 0.09 0.18 0.02 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605173 NA NA NA NA NA 0.051 NA 4.7525 1177 17 53084790 53084790 C T intronic STXBP4 NA NA NA intronic ENSG00000166263 NA NA NA NA NA 17q22 Score=838;Name=V$GR_Q6 NA NA NA rs12051573 0.19 0.19 0.183 0.184505 0.2475 0.2421 0.1441 0.0454 0.2771 0.25 0.22 0.17 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662672 NA NA NA NA NA 0.232 NA 4.7525 1177 20 54956707 54956707 A G intronic AURKA NA NA NA intronic ENSG00000087586 NA NA NA NA NA 20q13.2 NA Name=MEF2A NA NA rs6024840 0.43 0.43 0.431 0.446086 0.2475 0.6865 0.3473 0.5401 0.3456 0.23 0.65 0.32 0.56 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337991 NA NA NA NA NA 0.384 NA 4.7525 1177 4 2698364 2698364 C T intronic FAM193A NA NA NA intronic ENSG00000125386 NA NA NA NA NA 4p16.3 NA Name=EBF,POU2F2,SMC3_(ab9263),RFX5_(N-494),Pol2,IRF4_(M-17),Pol2-4H8,MEF2A,BCL11A,YY1_(C-20),Sin3Ak-20,BCL3,ZEB1_(SC-25388),NFKB,ELF1_(SC-631),Rad21,CTCF_(C-20),Oct-2,PAX5-C20,PAX5-N19,TCF12,EBF1_(C-8),p300,CTCF,CHD2_(N-1250) Name=8 NA rs3733215 0.4 0.4 0.366 0.388778 0.4026 0.4048 0.5648 0.233 0.4438 0.42 0.43 0.53 0.23 0.4376 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021663 NA NA 0.407558 0.276441 NA 0.428 NA 4.752242 1177 11 125831701 125831701 G A exonic CDON NA synonymous SNV CDON:NM_001243597:exon19:c.C3549T:p.V1183V,CDON:NM_016952:exon19:c.C3549T:p.V1183V exonic ENSG00000064309 NA synonymous SNV ENSG00000064309:ENST00000531738:exon10:c.C1680T:p.V560V,ENSG00000064309:ENST00000263577:exon19:c.C3549T:p.V1183V,ENSG00000064309:ENST00000392693:exon19:c.C3549T:p.V1183V NA NA 11q24.2 NA NA NA NA rs2276061 0.25 0.25 0.242 0.242212 0.3091 0.2837 0.2565 0.1014 0.3108 0.3 0.3 0.31 0.1 0.2906 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117164 NA NA 0.314841 0.13244 NA 0.399 NA 4.7521256 1177 8 87515888 87515888 G T intronic RMDN1 NA NA NA ncRNA_exonic ENSG00000254088 NA NA NA Score=501;Name=lod=145 NA 8q21.3 NA NA NA NA rs3883910 0.69 0.69 0.691 0.715455 0.5815 0.5863 0.7305 0.9584 0.6472 0.59 0.6 0.7 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250542 NA NA NA NA NA 0.565 NA 4.7518333 1177 9 136907005 136907005 G A exonic BRD3 NA synonymous SNV BRD3:NM_007371:exon8:c.C1284T:p.P428P exonic ENSG00000169925 NA synonymous SNV ENSG00000169925:ENST00000303407:exon8:c.C1284T:p.P428P,ENSG00000169925:ENST00000357885:exon8:c.C1284T:p.P428P,ENSG00000169925:ENST00000371834:exon8:c.C1284T:p.P428P NA NA 9q34.2 NA NA NA NA rs467387 0.33 0.33 0.273 0.335463 0.2903 0.6667 0.2594 0.0499 0.4806 0.31 0.65 0.25 0.07 0.3479 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68164 NA NA 0.276692 0.085565 NA 0.254 NA 4.7517746 1177 16 28997997 28997997 G A exonic LAT NA synonymous SNV LAT:NM_014387:exon6:c.G447A:p.A149A,LAT:NM_001014987:exon7:c.G360A:p.A120A,LAT:NM_001014988:exon7:c.G357A:p.A119A,LAT:NM_001014989:exon8:c.G468A:p.A156A exonic ENSG00000213658 NA synonymous SNV ENSG00000213658:ENST00000570232:exon4:c.G120A:p.A40A,ENSG00000213658:ENST00000360872:exon6:c.G447A:p.A149A,ENSG00000213658:ENST00000566177:exon6:c.G444A:p.A148A,ENSG00000213658:ENST00000354453:exon7:c.G417A:p.A139A,ENSG00000213658:ENST00000395456:exon7:c.G360A:p.A120A,ENSG00000213658:ENST00000454369:exon7:c.G357A:p.A119A,ENSG00000213658:ENST00000395461:exon8:c.G468A:p.A156A,ENSG00000213658:ENST00000564277:exon8:c.G357A:p.A119A NA NA 16p11.2 NA NA NA NA rs1131543 0.24 0.24 0.25 0.239217 0.3052 0.3125 0.1772 0.1142 0.3088 0.29 0.31 0.23 0.1 0.2854 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23391 NA NA 0.325233 0.141329 NA 0.225 NA 4.7508336 1177 11 111747297 111747297 A G exonic FDXACB1 NA synonymous SNV FDXACB1:NM_138378:exon4:c.T600C:p.F200F exonic ENSG00000255561,ENSG00000258529 NA synonymous SNV ENSG00000255561:ENST00000528274:exon3:c.T333C:p.F111F,ENSG00000255561:ENST00000542429:exon3:c.T153C:p.F51F,ENSG00000255561:ENST00000260257:exon4:c.T600C:p.F200F,ENSG00000258529:ENST00000524880:exon4:c.T600C:p.F200F NA NA 11q23.1 NA NA NA NA rs7124696 0.27 0.27 0.253 0.245208 0.33 0.1944 0.3228 0.1982 0.2188 0.32 0.18 0.36 0.23 0.2769 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.029051 NA NA 0.309251 0.216631 NA 0.326 NA 4.7505156 1177 7 24742553 24742553 G A intronic DFNA5 NA NA NA intronic ENSG00000105928 NA NA NA NA NA 7p15.3 NA NA Name=43 NA rs2240005 0.31 0.31 0.321 0.328674 0.2495 0.2748 0.2911 0.5219 0.2311 0.25 0.24 0.26 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163469 NA NA NA NA NA 0.304 NA 4.7505 1177 9 676954 676954 T C UTR5 KANK1 NM_001256876:c.-19T>C,NM_001256877:c.-19T>C,NM_015158:c.-19T>C NA NA ncRNA_UTR5 ENSG00000107104 NA NA NA NA NA 9p24.3 NA NA Name=26 NA rs2296055 0.45 0.45 0.452 0.463458 0.2217 0.5923 0.3689 0.7345 0.2802 0.22 0.6 0.38 0.7 0.3088 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322819 NA NA 0.21907 0.637086 NA 0.391 NA 4.75043 1177 2 220437081 220437081 C T UTR5 INHA NM_002191:c.-16C>T NA NA UTR5 ENSG00000123999 ENST00000243786:c.-16C>T NA NA NA NA 2q35 NA Name=Pol2 NA NA rs35118453 0.19 0.19 0.167 0.163538 0.1958 0.2113 0.2493 0.1188 0.0808 0.2 0.22 0.24 0.12 0.1837 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076319 NA NA 0.203488 0.14049 NA 0.159 NA 4.7503454 1177 2 128184770 128184770 T C exonic PROC NA synonymous SNV PROC:NM_000312:exon8:c.T768C:p.D256D exonic ENSG00000115718 NA synonymous SNV ENSG00000115718:ENST00000409048:exon6:c.T870C:p.D290D,ENSG00000115718:ENST00000422777:exon7:c.T768C:p.D256D,ENSG00000115718:ENST00000453608:exon7:c.T933C:p.D311D,ENSG00000115718:ENST00000234071:exon8:c.T768C:p.D256D NA NA 2q14.3 NA NA NA NA rs5937 0.21 0.21 0.226 0.229832 0.3052 0.001 0.2104 0.3472 0.2434 0.29 0.0017 0.23 0.31 0.2828 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252059 NA NA 0.328605 0.315252 NA 0.355 NA 4.7500616 1177 20 50407966 50407966 C T exonic SALL4 NA synonymous SNV SALL4:NM_020436:exon2:c.G1056A:p.A352A exonic ENSG00000101115 NA synonymous SNV ENSG00000101115:ENST00000217086:exon2:c.G1056A:p.A352A,ENSG00000101115:ENST00000395997:exon2:c.G1056A:p.A352A NA NA 20q13.2 NA NA NA NA rs13038893 0.23 0.23 0.233 0.209265 0.328 0.0278 0.2046 0.3071 0.1452 0.33 0.04 0.24 0.31 0.2522 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.404764 NA NA 0.336512 0.332728 NA 0.21 NA 4.7499546 1177 3 155893884 155893884 A G intronic KCNAB1 NA NA NA ncRNA_exonic ENSG00000227709 NA NA NA Score=796;Name=lod=2291 NA 3q25.31 NA NA NA NA rs7625226 0.68 0.68 0.66 0.628594 0.5835 0.9097 0.755 0.5129 0.4519 0.57 0.94 0.71 0.51 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206423 NA NA NA NA NA 0.659 NA 4.7498333 1177 3 170671429 170671429 C A intergenic EIF5A2,SLC2A2 dist=45003;dist=42708 NA NA ncRNA_exonic ENSG00000240704 NA NA NA Score=546;Name=lod=221 NA 3q26.2 NA NA NA NA rs7628878 0.26 0.26 0.259 0.253195 0.2505 0.25 0.2507 0.3139 0.1789 0.25 0.26 0.25 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322669 NA NA NA NA NA 0.312 NA 4.7495 1177 20 61834695 61834695 G A exonic YTHDF1 NA synonymous SNV YTHDF1:NM_017798:exon4:c.C597T:p.A199A exonic ENSG00000149658 NA synonymous SNV ENSG00000149658:ENST00000370333:exon2:c.C447T:p.A149A,ENSG00000149658:ENST00000370339:exon4:c.C597T:p.A199A NA NA 20q13.33 NA NA NA NA rs6122103 0.32 0.32 0.319 0.321086 0.3032 0.369 0.2478 0.3056 0.363 0.31 0.35 0.27 0.33 0.3073 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.165642 NA NA 0.307209 0.324103 NA 0.312 NA 4.7489576 1177 19 1053575 1053575 T G intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA Name=ZNF263 NA NA rs9282559 0.12 0.12 0.133 0.130391 0.0746 NA 0.0504 0.351 0.0808 0.08 NA 0.06 0.36 0.1147 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628111 NA NA 0.062118 0.256782 NA 0.116 NA 4.748582 1177 14 29063025 29063025 A G intergenic LINC00645,FOXG1 dist=954183;dist=173253 NA NA ncRNA_exonic ENSG00000257662 NA NA NA Score=473;Name=lod=112 NA 14q12 NA NA NA NA rs1956377 0.33 0.33 0.348 0.345447 0.2515 0.4484 0.2882 0.4153 0.2822 0.25 0.4 0.28 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325516 NA NA NA NA NA 0.261 NA 4.7485 1177 20 34054729 34054729 T C intronic CEP250 NA NA NA intronic ENSG00000126001 NA NA NA NA NA 20q11.22 NA Name=STAT1 NA NA rs2296402 0.31 0.31 0.303 0.371006 0.2515 0.2688 0.2579 0.4924 0.5153 0.24 0.25 0.29 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486141 NA NA NA NA NA 0.297 NA 4.7485 1177 20 36793501 36793501 A G intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA Name=Pol2,NRSF,Ini1,AP-2alpha,AP-2gamma Name=3 NA rs2067027 0.44 0.44 0.428 0.413339 0.6342 0.4306 0.3746 0.1498 0.5521 0.62 0.41 0.45 0.18 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441521 1.441521 NA 0.617536 0.187861 ID=COSN166523;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.297 NA 4.748264 1177 19 56473460 56473460 T C exonic NLRP8 NA synonymous SNV NLRP8:NM_176811:exon4:c.T2070C:p.R690R exonic ENSG00000179709 NA synonymous SNV ENSG00000179709:ENST00000291971:exon4:c.T2070C:p.R690R,ENSG00000179709:ENST00000590542:exon4:c.T2070C:p.R690R NA NA 19q13.43 NA NA NA NA rs6509975 0.33 0.33 0.328 0.344249 0.2972 0.2827 0.3646 0.4092 0.3538 0.3 0.29 0.36 0.39 0.3202 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180724 NA NA 0.301512 0.403087 NA 0.355 NA 4.7477546 1177 15 65678141 65678141 A T intronic IGDCC4 NA NA NA intronic ENSG00000103742 NA NA NA NA NA 15q22.31 NA Name=BAF155,GTF2F1_(RAP-74),CTCF,Max,Rad21,YY1_(C-20),E2F6,Pol2,SMC3_(ab9263),GABP,Znf143_(16618-1-AP),CTCFL_(SC-98982),PAX5-C20,CTCF_(C-20),c-Myc,NFKB,Sin3Ak-20,Pol2-4H8,ZNF263,CTCF_(SC-5916) Name=148 NA rs7183130 0.54 0.54 0.525 0.492212 0.3936 0.6627 0.5937 0.4985 0.3374 0.42 0.68 0.56 0.55 0.4547 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931687 NA NA 0.404047 0.497955 NA 0.5 NA 4.747653 1177 3 193365939 193365939 T G intronic OPA1 NA NA NA intronic ENSG00000198836 NA NA NA NA NA 3q29 NA NA NA NA rs9831772 0.07 0.07 0.047 0.0808706 0.0855 0.0605 0.1484 0.0371 0.1084 0.09 0.05 0.13 0.02 0.0871 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834431 NA NA 0.079884 0.05109 NA 0.101 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081754.1|RCV000127280.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.747516 1177 2 120125973 120125973 G C intronic DBI NA NA NA intronic ENSG00000155368 NA NA NA NA NA 2q14.2 NA NA Name=2 NA rs3091407 0.16 0.16 0.145 0.148163 0.2525 0.006 0.1556 0.1868 0.1299 0.26 0.0035 0.18 0.17 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651527 NA NA NA NA NA 0.167 NA 4.7475 1177 12 52985166 52985166 G A intronic KRT72 NA NA NA intronic ENSG00000170486 NA NA NA NA NA 12q13.13 NA Name=c-Myc NA NA rs11613547 0.18 0.18 0.137 0.150559 0.2525 0.1389 0.1556 0.1203 0.0951 0.25 0.13 0.18 0.12 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464342 NA NA NA NA NA 0.225 NA 4.7475 1177 15 67102099 67102099 T C intergenic SMAD6,SMAD3 dist=27762;dist=256096 NA NA ncRNA_exonic ENSG00000270490 NA NA NA Score=692;Name=lod=867 NA 15q22.31 NA NA NA NA rs6494603 0.32 0.32 0.339 0.341653 0.2525 0.1845 0.1931 0.6989 0.2178 0.26 0.18 0.21 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597975 NA NA NA NA NA 0.391 NA 4.7475 1177 3 124909178 124909178 T G intronic SLC12A8 NA NA NA intronic ENSG00000221955 NA NA NA NA NA 3q21.2 NA NA Name=3 NA rs4679159 0.1 0.1 0.075 0.0974441 0.0765 0.1181 0.1297 0.1346 0.0245 0.08 0.11 0.11 0.12 0.0921 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29038 NA NA 0.084065 0.130446 NA 0.072 NA 4.747335 1177 12 124210782 124210782 T C exonic ATP6V0A2 NA synonymous SNV ATP6V0A2:NM_012463:exon5:c.T471C:p.S157S exonic ENSG00000185344 NA synonymous SNV ENSG00000185344:ENST00000504192:exon2:c.T81C:p.S27S,ENSG00000185344:ENST00000330342:exon5:c.T471C:p.S157S NA NA 12q24.31 NA NA NA NA rs1399961 0.74 0.74 0.731 0.7498 0.6233 0.9474 0.7709 0.7027 0.7249 0.62 0.95 0.74 0.67 0.6756 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258585 NA NA 0.620698 0.677258 NA 0.761 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081553.1;CLNDSDB=.;CLNDSDBID=. 4.7470686 1177 12 26732987 26732987 G A exonic ITPR2 NA synonymous SNV ITPR2:NM_002223:exon33:c.C4482T:p.P1494P exonic ENSG00000123104 NA synonymous SNV ENSG00000123104:ENST00000381340:exon33:c.C4482T:p.P1494P NA NA 12p11.23 NA NA NA NA rs2230376 0.19 0.19 0.155 0.186701 0.332 0.0744 0.2248 0.0923 0.2536 0.32 0.06 0.22 0.12 0.2703 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30909 NA NA 0.317345 0.131361 NA 0.109 NA 4.7470216 1177 8 145139522 145139522 C G intronic GPAA1 NA NA NA intronic ENSG00000197858 NA NA NA NA Name=Metabolic traits 8q24.3 NA NA NA NA rs6558295 0.11 0.11 0.121 0.11901 0.0895 0.001 0.0634 0.3253 0.0317 0.09 0.0017 0.07 0.32 0.0837 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609724 NA NA 0.079947 0.288537 NA 0.116 NA 4.746853 1177 6 151152257 151152257 A G exonic PLEKHG1 NA synonymous SNV PLEKHG1:NM_001029884:exon16:c.A2010G:p.K670K exonic ENSG00000120278 NA synonymous SNV ENSG00000120278:ENST00000358517:exon15:c.A2010G:p.K670K,ENSG00000120278:ENST00000367328:exon16:c.A2010G:p.K670K NA NA 6q25.1 NA NA NA NA rs926624 0.3 0.3 0.273 0.269768 0.3082 0.381 0.3329 0.1195 0.274 0.31 0.41 0.34 0.11 0.3172 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249096 NA NA 0.294535 0.145483 ID=COSM450680;OCCURENCE=1(breast),1(large_intestine) 0.225 NA 4.7467316 1177 14 74992800 74992800 A G exonic LTBP2 NA synonymous SNV LTBP2:NM_000428:exon14:c.T2406C:p.T802T exonic ENSG00000119681 NA synonymous SNV ENSG00000119681:ENST00000556359:exon5:c.T186C:p.T62T,ENSG00000119681:ENST00000261978:exon14:c.T2406C:p.T802T,ENSG00000119681:ENST00000553939:exon14:c.T2406C:p.T802T,ENSG00000119681:ENST00000556690:exon14:c.T2406C:p.T802T NA NA 14q24.3 NA NA NA NA rs699374 0.37 0.37 0.36 0.378794 0.2843 0.3294 0.4107 0.5416 0.2843 0.3 0.37 0.35 0.49 0.3545 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.564394 NA NA 0.281279 0.494096 ID=COSM1178433;OCCURENCE=1(prostate) 0.355 NA 4.7465876 1177 5 39888776 39888776 T G intergenic DAB2,PTGER4 dist=463441;dist=791256 NA NA ncRNA_exonic ENSG00000248651 NA NA NA Score=352;Name=lod=36 NA 5p13.1 NA NA NA NA rs10941479 0.17 0.17 0.167 0.188498 0.2535 0.1885 0.1369 0.0794 0.3057 0.24 0.18 0.14 0.08 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296368 NA NA NA NA NA 0.138 NA 4.7465 1177 9 27204798 27204798 G A intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA Name=45 NA rs566490 0.17 0.17 0.153 0.151358 0.2535 0.123 0.1599 0.0764 0.1708 0.25 0.12 0.2 0.09 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799453 NA NA NA NA NA 0.181 NA 4.7465 1177 9 27204802 27204802 A G intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA Name=45 NA rs593621 0.17 0.17 0.154 0.151158 0.2535 0.122 0.1599 0.0764 0.1708 0.25 0.12 0.2 0.09 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59753 NA NA NA NA NA 0.181 NA 4.7465 1177 11 100537407 100537407 A T intergenic CNTN5,ARHGAP42 dist=307791;dist=21000 NA NA ncRNA_exonic ENSG00000255059 NA NA NA Score=676;Name=lod=745 NA 11q22.1 NA NA NA NA rs2134301 0.29 0.29 0.267 0.297125 0.2535 0.4623 0.3415 0.0363 0.4928 0.26 0.48 0.33 0.08 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300115 NA NA NA NA NA 0.362 NA 4.7465 1177 15 48805637 48805637 G A intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA Name=4 NA rs2306352 0.39 0.39 0.422 0.401957 0.2535 0.3522 0.2723 0.7421 0.2382 0.25 0.38 0.23 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.213237 NA NA NA NA NA 0.355 NA 4.7465 1177 19 10794630 10794630 G T exonic ILF3 NA synonymous SNV ILF3:NM_001137673:exon17:c.G2055T:p.S685S,ILF3:NM_004516:exon17:c.G2043T:p.S681S,ILF3:NM_012218:exon17:c.G2043T:p.S681S,ILF3:NM_017620:exon17:c.G2055T:p.S685S,ILF3:NM_153464:exon17:c.G2043T:p.S681S exonic ENSG00000129351 NA synonymous SNV ENSG00000129351:ENST00000590869:exon2:c.G72T:p.S24S,ENSG00000129351:ENST00000250241:exon16:c.G2043T:p.S681S,ENSG00000129351:ENST00000588657:exon16:c.G2055T:p.S685S,ENSG00000129351:ENST00000590261:exon16:c.G2043T:p.S681S,ENSG00000129351:ENST00000592763:exon16:c.G2055T:p.S685S,ENSG00000129351:ENST00000318511:exon17:c.G2043T:p.S681S,ENSG00000129351:ENST00000407004:exon17:c.G2055T:p.S685S,ENSG00000129351:ENST00000420083:exon17:c.G2043T:p.S681S,ENSG00000129351:ENST00000449870:exon17:c.G2055T:p.S685S,ENSG00000129351:ENST00000589998:exon17:c.G2043T:p.S681S Score=469;Name=lod=107 NA 19p13.2 NA NA NA NA rs2229383 0.64 0.64 0.604 0.663738 0.5994 0.6429 0.7651 0.6929 0.6401 0.6 0.6 0.73 0.68 0.6731 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062196 NA NA 0.647674 0.683159 NA 0.551 NA 4.7464926 1177 2 74682512 74682512 C T ncRNA_intronic INO80B-WBP1 NA NA NA intronic ENSG00000115274 NA NA NA NA NA 2p13.1 NA NA Name=4 NA rs2268417 0.51 0.51 0.526 0.538538 0.159 0.8214 0.3256 0.8729 0.3364 0.15 0.83 0.27 0.86 0.2809 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283538 NA NA 0.147093 0.757376 NA 0.449 NA 4.7463403 1177 17 1674429 1674429 T C exonic SERPINF1 NA synonymous SNV SERPINF1:NM_002615:exon4:c.T390C:p.T130T exonic ENSG00000132386 NA synonymous SNV ENSG00000132386:ENST00000254722:exon4:c.T390C:p.T130T,ENSG00000132386:ENST00000570731:exon4:c.T390C:p.T130T,ENSG00000132386:ENST00000571360:exon4:c.T351C:p.T117T NA NA 17p13.3 NA NA NA NA rs8074840 0.3 0.3 0.245 0.300319 0.3101 0.4067 0.3631 0.1203 0.3793 0.33 0.39 0.32 0.14 0.3161 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514062 NA NA 0.294186 0.157739 ID=COSM436124;OCCURENCE=1(breast) 0.239 NA 4.7462806 1177 8 103573001 103573001 C G exonic ODF1 NA synonymous SNV ODF1:NM_024410:exon2:c.C642G:p.P214P exonic ENSG00000155087 NA synonymous SNV ENSG00000155087:ENST00000285402:exon2:c.C642G:p.P214P,ENSG00000155087:ENST00000518835:exon2:c.C21G:p.P7P Score=284;Name=lod=19 NA 8q22.3 NA NA NA NA rs3018445 0.49 0.49 NA 0.490615 0.6431 0.3056 0.5043 0.4486 0.5716 0.64 0.31 0.52 0.44 0.6401 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145106 NA NA 0.637326 0.455969 NA 0.486 NA 4.7461406 1177 3 60716037 60716037 T C intronic FHIT NA NA NA ncRNA_exonic ENSG00000225673 NA NA NA Score=737;Name=lod=1322 NA 3p14.2 NA NA NA NA rs2363681 0.65 0.65 0.635 0.634385 0.5875 0.8065 0.5216 0.5953 0.638 0.58 0.8 0.54 0.64 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639982 NA NA NA NA NA 0.652 NA 4.7458333 1177 4 663908 663908 A G UTR3 PDE6B NM_000283:c.*12A>G,NM_001145291:c.*12A>G,NM_001145292:c.*12A>G NA NA exonic ENSG00000133256 NA unknown UNKNOWN NA NA 4p16.3 NA Name=Pol2,Pol2-4H8 Name=11 NA rs28675771 0.54 0.54 0.501 0.547923 0.6581 0.4603 0.6441 0.4281 0.6186 0.65 0.44 0.65 0.41 0.6146 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155443 NA NA 0.648256 0.444621 NA 0.558 NA 4.7457107 1177 1 206759975 206759975 G A intronic RASSF5 NA NA NA intronic ENSG00000136653 NA NA NA NA NA 1q32.1 NA NA Name=12 NA rs10779488 0.25 0.25 0.28 0.244209 0.2545 0.251 0.2003 0.2436 0.2587 0.25 0.28 0.21 0.26 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291508 NA NA NA NA NA 0.239 NA 4.7455 1177 13 88032371 88032371 T A intergenic SLITRK6,MIR4500HG dist=1658888;dist=63871 NA NA ncRNA_exonic ENSG00000228473 NA NA NA Score=557;Name=lod=244 NA 13q31.2 NA NA NA NA rs61744594 0.23 0.23 0.208 0.226438 0.2545 0.3899 0.2075 0.0461 0.2863 0.24 0.39 0.2 0.05 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109661 NA NA NA NA NA 0.196 NA 4.7455 1177 18 72234635 72234635 C T exonic CNDP1 NA synonymous SNV CNDP1:NM_032649:exon6:c.C723T:p.Y241Y exonic ENSG00000150656 NA synonymous SNV ENSG00000150656:ENST00000582365:exon5:c.C594T:p.Y198Y,ENSG00000150656:ENST00000358821:exon6:c.C723T:p.Y241Y Score=309;Name=lod=24 NA 18q22.3 NA NA NA NA rs12960862 0.47 0.47 0.455 0.454473 0.671 0.4008 0.4856 0.2852 0.4939 0.67 0.33 0.47 0.32 0.5839 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739772 NA NA 0.666279 0.368815 NA 0.543 NA 4.7454876 1177 6 32546818 32546818 C T UTR3 HLA-DRB1 NM_002124:c.*50G>A,NM_001243965:c.*50G>A NA NA UTR3 ENSG00000196126 ENST00000360004:c.*50G>A NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs36217730 0.1 0.1 0.105 0.0870607 0.174 0.0298 0.1455 0.0711 0.0368 0.16 0.04 0.14 0.07 0.2648 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038688 NA NA 0.14916 0.09284 ID=COSN167736;OCCURENCE=1(large_intestine) 0.138 NA 4.7453734 1178 15 52517737 52517737 A C intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA Name=PU.1 NA NA rs11070887 0.27 0.27 0.278 0.303315 0.0507 0.5556 0.1974 0.385 0.2679 0.05 0.54 0.16 0.4 0.1562 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.16752 2.16752 NA 0.048121 0.328256 NA 0.254 NA 4.744979 1178 7 157361564 157361564 C T intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA Name=SREBP1,Pol2 Name=68 NA rs7789467 0.29 0.29 0.328 0.274161 0.4433 0.0099 0.2752 0.3502 0.2689 0.44 0.01 0.32 0.37 0.3584 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.085509 NA NA 0.453372 0.361552 NA 0.384 NA 4.744928 1178 18 11639356 11639356 G C intergenic PIEZO2,GNAL dist=490595;dist=49658 NA NA ncRNA_exonic ENSG00000257513 NA NA NA Score=259;Name=lod=15 NA 18p11.21 NA NA NA NA rs3928536 0.59 0.59 0.55 0.59365 0.6004 0.748 0.7205 0.3343 0.6881 0.61 0.72 0.68 0.35 0.6549 0.72 0.02 D . . . . . . 0.711 P . . . . -0.974 T 0.000 T . 0.485 6.63 -0.982 -0.334 0.038 . 0.484771 NA NA NA NA NA 0.159 NA 4.7447 1178 8 145140472 145140472 A G intronic GPAA1 NA NA NA intronic ENSG00000197858 NA NA NA Score=358;Name=lod=38 NA 8q24.3 NA NA NA NA rs1127096 0.12 0.12 0.111 0.126398 0.0895 0.001 0.0648 0.3525 0.0317 0.09 0.0017 0.07 0.34 0.0855 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764606 NA NA 0.080359 0.312593 NA 0.13 NA 4.744641 1178 11 74419357 74419357 C T exonic CHRDL2 NA synonymous SNV CHRDL2:NM_015424:exon5:c.G516A:p.Q172Q exonic ENSG00000054938 NA nonsynonymous SNV ENSG00000054938:ENST00000376324:exon3:c.G362A:p.R121K Score=503;Name=lod=147 NA 11q13.4 NA NA NA NA rs1944937 0.77 0.77 0.748 0.763978 0.7475 0.8006 0.8429 0.7224 0.7434 0.75 0.83 0.82 0.69 0.7614 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.057769 2.057769 1 0.746564 0.729347 ID=COSM1163585;OCCURENCE=1(pancreas) 0.725 NA 4.744536 1178 6 29771080 29771080 G A intergenic LOC554223,HLA-G dist=5496;dist=23676 NA NA ncRNA_exonic ENSG00000213880 NA NA NA Score=789;Name=lod=2148 NA 6p22.1 NA NA NA NA rs1610658 0.23 0.23 0.22 0.232428 0.2555 0.1091 0.245 0.2504 0.3027 0.26 0.14 0.22 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22989 NA NA NA NA NA 0.254 NA 4.7445 1178 6 29771421 29771421 G A intergenic LOC554223,HLA-G dist=5837;dist=23335 NA NA ncRNA_exonic ENSG00000213880 NA NA NA Score=789;Name=lod=2148 NA 6p22.1 NA NA NA NA rs1610659 0.23 0.23 0.223 0.232228 0.2555 0.1091 0.245 0.2504 0.3016 0.26 0.14 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037585 NA NA NA NA NA 0.225 NA 4.7445 1178 6 29771654 29771654 A G intergenic LOC554223,HLA-G dist=6070;dist=23102 NA NA ncRNA_exonic ENSG00000213880 NA NA NA Score=789;Name=lod=2148 NA 6p22.1 NA NA NA NA rs1610661 0.23 0.23 0.231 0.232228 0.2555 0.1091 0.245 0.2504 0.3016 0.26 0.14 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496651 NA NA NA NA NA 0.246 NA 4.7445 1178 6 29798419 29798419 G A intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA Name=2 NA rs915670 0.23 0.23 0.222 0.232029 0.2555 0.1091 0.245 0.2504 0.3006 0.26 0.14 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222365 NA NA NA NA NA 0.254 NA 4.7445 1178 9 71224928 71224928 C A intergenic TMEM252,PIP5K1B dist=69145;dist=95688 NA NA ncRNA_exonic ENSG00000224025 NA NA NA Score=850;Name=lod=3787 NA 9q21.11 NA NA NA NA rs10869119 0.22 0.22 0.2 0.231629 0.2555 0.1815 0.2896 0.1581 0.317 0.25 0.19 0.3 0.17 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11213 NA NA NA NA NA 0.181 NA 4.7445 1178 10 54171313 54171313 C T intergenic DKK1,MBL2 dist=93896;dist=353827 NA NA ncRNA_exonic ENSG00000227972 NA NA NA Score=541;Name=lod=211 NA 10q21.1 NA NA NA NA rs1194647 0.47 0.47 0.48 0.489217 0.2555 0.6379 0.2839 0.764 0.3507 0.23 0.66 0.31 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741324 NA NA NA NA NA 0.406 NA 4.7445 1178 4 74302870 74302870 T C intronic AFP NA NA NA intronic ENSG00000081051 NA NA NA Score=313;Name=lod=25 NA 4q13.3 NA Name=HEY1 NA NA rs16849384 0.43 0.43 0.392 0.423722 0.4245 0.4206 0.5519 0.3396 0.4489 0.42 0.45 0.53 0.34 0.4233 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.463027 1.463027 NA 0.407886 0.372674 NA 0.493 NA 4.744314 1178 17 81043039 81043039 A G exonic METRNL NA synonymous SNV METRNL:NM_001004431:exon2:c.A396G:p.P132P exonic ENSG00000176845 NA synonymous SNV ENSG00000176845:ENST00000571814:exon1:c.A150G:p.P50P,ENSG00000176845:ENST00000320095:exon2:c.A396G:p.P132P,ENSG00000176845:ENST00000570778:exon2:c.A150G:p.P50P Score=366;Name=lod=41 NA 17q25.3 NA NA NA NA rs9908756 0.77 0.77 0.78 0.786741 0.6213 0.9167 0.7507 0.8517 0.7607 0.65 0.92 0.69 0.84 0.6889 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743219 NA NA 0.612326 0.827508 ID=COSM437858;OCCURENCE=1(breast) 0.79 NA 4.7441406 1178 2 228102752 228102752 C A ncRNA_intronic LOC654841 NA NA NA ncRNA_exonic ENSG00000236432 NA NA NA NA NA 2q36.3 NA Name=FOXA1_(SC-101058) NA NA rs1882435 0.35 0.35 0.324 0.305112 0.3201 0.4206 0.2896 0.2504 0.2556 0.32 0.45 0.3 0.3 0.3078 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399495 NA NA 0.294787 0.262629 ID=COSN166420;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.312 NA 4.7439796 1178 3 60716214 60716214 T C intronic FHIT NA NA NA ncRNA_exonic ENSG00000225673 NA NA NA Score=596;Name=lod=351 NA 3p14.2 NA NA NA NA rs6764043 0.65 0.65 0.653 0.635783 0.5895 0.8056 0.5216 0.5961 0.6431 0.59 0.8 0.54 0.64 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685026 NA NA NA NA NA 0.652 NA 4.7438333 1178 4 71384579 71384579 G A intronic AMTN NA NA NA intronic ENSG00000187689 NA NA NA NA NA 4q13.3 NA Name=CEBPB,JunD,STAT3 Name=21 NA rs35692424 0.31 0.31 0.27 0.272764 0.4453 0.1994 0.4568 0.1127 0.2566 0.45 0.21 0.43 0.12 0.3695 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597472 NA NA 0.441395 0.180209 NA 0.29 NA 4.743805 1178 6 42672434 42672434 C T intronic PRPH2 NA NA NA intronic ENSG00000112619 NA NA NA NA NA 6p21.1 NA Name=HEY1,Pol2,TAF7_(SQ-8),Pol2-4H8 NA NA rs34722725 0.29 0.29 0.236 0.273962 0.2565 0.4673 0.3285 0.1573 0.2117 0.25 0.44 0.32 0.16 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323071 NA NA NA NA NA 0.304 NA 4.7435 1178 6 31378387 31378387 T C exonic MICA NA synonymous SNV MICA:NM_000247:exon2:c.T138C:p.L46L,MICA:NM_001177519:exon2:c.T138C:p.L46L exonic ENSG00000204520 NA synonymous SNV ENSG00000204520:ENST00000421350:exon2:c.T99C:p.L33L,ENSG00000204520:ENST00000449934:exon2:c.T138C:p.L46L NA NA 6p21.33 NA NA NA NA rs1063631 0.36 0.36 0.309 0.365216 0.3141 0.3016 0.4078 0.4788 0.2996 0.32 0.27 0.46 0.46 0.3322 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202734 NA NA 0.27687 0.414017 ID=COSM1311988;OCCURENCE=1(urinary_tract) 0.225 NA 4.7434966 1178 3 98536571 98536571 T C intronic DCBLD2 NA NA NA intronic ENSG00000057019 NA NA NA NA NA 3q12.1 NA Name=CTCF,Rad21,CTCF_(C-20),SMC3_(ab9263),CTCF_(SC-5916) Name=137 NA rs1440150 0.35 0.35 0.372 0.361022 0.4076 0.2262 0.3559 0.4554 0.3282 0.43 0.19 0.34 0.41 0.4132 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527245 NA NA 0.436061 0.467163 NA 0.377 NA 4.743139 1178 3 156881392 156881392 T G intergenic CCNL1,VEPH1 dist=2910;dist=96140 NA NA ncRNA_exonic ENSG00000241770,ENSG00000244515 NA NA NA Score=667;Name=lod=684 NA 3q25.31 NA NA NA NA rs12630209 0.27 0.27 0.221 0.241813 0.2575 0.3333 0.4769 0.0787 0.1851 0.25 0.36 0.43 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180006 NA NA NA NA NA 0.174 NA 4.7425 1178 6 75320266 75320266 A G intergenic CD109,COL12A1 dist=782225;dist=473776 NA NA ncRNA_exonic ENSG00000218483 NA NA NA NA NA 6q13 NA NA Name=19 NA rs487580 0.45 0.45 0.46 0.439097 0.2575 0.5308 0.3228 0.764 0.1748 0.26 0.55 0.3 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604145 NA NA NA NA NA 0.391 NA 4.7425 1178 7 138386589 138386589 C T intergenic SVOPL,ATP6V0A4 dist=22799;dist=4450 NA NA ncRNA_exonic ENSG00000223721 NA NA NA Score=656;Name=lod=618 NA 7q34 NA NA NA NA rs13238736 0.22 0.22 0.21 0.221446 0.2575 0.2292 0.3473 0.1634 0.1656 0.25 0.17 0.31 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278129 NA NA NA NA NA 0.138 NA 4.7425 1178 10 28725475 28725475 G A intergenic MPP7,WAC-AS1 dist=154408;dist=83371 NA NA ncRNA_exonic ENSG00000224439 NA NA NA Score=805;Name=lod=2496 NA 10p12.1 NA NA NA NA rs72807799 0.12 0.12 0.109 0.111222 0.2575 0.005 0.1571 0.0393 0.135 0.24 0.01 0.16 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243359 NA NA NA NA NA 0.254 NA 4.7425 1178 13 99293141 99293141 G T intergenic STK24,SLC15A1 dist=63745;dist=42914 NA NA ncRNA_exonic ENSG00000233662 NA NA NA Score=732;Name=lod=1258 NA 13q32.2 NA NA NA NA rs16951591 0.22 0.22 0.201 0.228634 0.2575 0.2024 0.1816 0.1853 0.318 0.27 0.18 0.18 0.21 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205387 NA NA NA NA NA 0.188 NA 4.7425 1178 20 1651602 1651602 G A intergenic SIRPG,LOC100289473 dist=13177;dist=102409 NA NA ncRNA_exonic ENSG00000223750 NA NA NA Score=333;Name=lod=30 NA 20p13 NA NA NA NA rs968860 0.33 0.33 0.317 0.360623 0.2575 0.6151 0.2478 0.1815 0.5266 0.27 0.58 0.26 0.18 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15759 NA NA NA NA NA 0.261 NA 4.7425 1178 10 88414570 88414570 G A exonic OPN4 NA synonymous SNV OPN4:NM_001030015:exon1:c.G30A:p.P10P,OPN4:NM_033282:exon1:c.G30A:p.P10P exonic ENSG00000122375 NA synonymous SNV ENSG00000122375:ENST00000241891:exon1:c.G30A:p.P10P,ENSG00000122375:ENST00000372071:exon1:c.G30A:p.P10P,ENSG00000122375:ENST00000443292:exon1:c.G30A:p.P10P NA NA 10q23.2 NA NA NA NA rs11202106 0.22 0.22 0.205 0.236022 0.3022 0.2778 0.1758 0.062 0.4029 0.3 0.27 0.17 0.08 0.2947 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032395 NA NA 0.327791 0.098048 NA 0.181 NA 4.7419756 1178 11 17517235 17517235 A G intronic USH1C NA NA NA intronic ENSG00000006611 NA NA NA Score=329;Name=lod=29 NA 11p15.1 NA NA NA NA rs10832795 0.39 0.39 0.358 0.369808 0.4384 0.3194 0.4798 0.2216 0.4734 0.44 0.34 0.46 0.3 0.4062 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267185 NA NA 0.41358 0.232045 NA 0.348 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041284.1;CLNDSDB=.;CLNDSDBID=. 4.74182 1178 3 156881002 156881002 T C intergenic CCNL1,VEPH1 dist=2520;dist=96530 NA NA ncRNA_exonic ENSG00000244515 NA NA NA Score=519;Name=lod=172 NA 3q25.31 NA NA NA NA rs10936066 0.27 0.27 0.225 0.23722 0.2584 0.3333 0.4741 0.0628 0.184 0.25 0.36 0.43 0.07 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.892688 NA NA NA NA NA 0.174 NA 4.7416 1178 3 156881559 156881559 A G intergenic CCNL1,VEPH1 dist=3077;dist=95973 NA NA ncRNA_exonic ENSG00000244515 NA NA NA Score=329;Name=lod=29 NA 3q25.31 NA NA NA NA rs62274155 0.27 0.27 0.209 0.242412 0.2584 0.3343 0.4784 0.0787 0.1851 0.25 0.36 0.43 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104756 NA NA NA NA NA 0.174 NA 4.7416 1178 3 156881588 156881588 C T intergenic CCNL1,VEPH1 dist=3106;dist=95944 NA NA ncRNA_exonic ENSG00000244515 NA NA NA Score=329;Name=lod=29 NA 3q25.31 NA NA NA NA rs62274156 0.27 0.27 0.227 0.242612 0.2584 0.3333 0.4784 0.0794 0.1861 0.25 0.36 0.43 0.09 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299617 NA NA NA NA NA 0.174 NA 4.7416 1178 5 40067133 40067133 T C intergenic DAB2,PTGER4 dist=641798;dist=612899 NA NA ncRNA_exonic ENSG00000249668 NA NA NA Score=387;Name=lod=50 NA 5p13.1 NA NA NA NA rs35313658 0.24 0.24 0.213 0.222843 0.2584 0.1518 0.3573 0.1793 0.2229 0.29 0.16 0.32 0.18 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724054 NA NA NA NA NA 0.232 NA 4.7416 1178 9 116838743 116838743 C A intronic AMBP NA NA NA intronic ENSG00000106927 NA NA NA NA NA 9q32 NA Name=CTCF NA NA rs2567700 0.28 0.28 0.243 0.271366 0.2584 0.4444 0.3559 0.1377 0.227 0.23 0.45 0.33 0.1 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182648 NA NA NA NA NA 0.261 NA 4.7416 1178 10 99125722 99125722 A G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA Name=8 NA rs11189167 0.25 0.25 0.222 0.271965 0.2584 0.3095 0.2651 0.1762 0.3814 0.25 0.28 0.26 0.18 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028586 NA NA NA NA NA 0.196 NA 4.7416 1178 17 51512315 51512315 T C intergenic C17orf112,KIF2B dist=447303;dist=387924 NA NA ncRNA_exonic ENSG00000262271 NA NA NA Score=673;Name=lod=726 NA 17q22 NA NA NA NA rs9914240 0.4 0.4 0.382 0.445687 0.2584 0.5526 0.4222 0.4788 0.5 0.26 0.54 0.35 0.47 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044401 NA NA NA NA NA 0.391 NA 4.7416 1178 12 122626381 122626381 G A UTR3 MLXIP NM_014938:c.*22G>A NA NA UTR3 ENSG00000175727 ENST00000319080:c.*22G>A,ENST00000538698:c.*22G>A NA NA NA NA 12q24.31 Score=907;Name=V$OCT1_06 NA NA NA rs11057509 0.17 0.17 0.145 0.165335 0.2217 0.2312 0.1628 0.0431 0.2065 0.2 0.23 0.17 0.03 0.1939 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480027 NA NA 0.176325 0.056002 NA 0.152 NA 4.7414084 1178 6 31379773 31379773 C T exonic MICA NA synonymous SNV MICA:NM_000247:exon4:c.C663T:p.I221I,MICA:NM_001177519:exon4:c.C663T:p.I221I exonic ENSG00000204520 NA synonymous SNV ENSG00000204520:ENST00000421350:exon3:c.C336T:p.I112I,ENSG00000204520:ENST00000449934:exon4:c.C663T:p.I221I NA NA 6p21.33 NA NA NA NA rs1051796 0.37 0.37 0.274 0.363618 0.3141 0.3006 0.4049 0.4766 0.2975 0.32 0.28 0.46 0.46 0.3243 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034326 NA NA 0.286926 0.418353 NA 0.13 NA 4.7413406 1178 10 70392375 70392375 G A intronic TET1 NA NA NA ncRNA_exonic ENSG00000213025 NA NA NA Score=441;Name=lod=83 NA 10q21.3 NA NA NA NA rs1747 0.42 0.42 0.408 0.451677 0.5924 0.5397 0.4006 0.2489 0.5266 0.52 0.45 0.41 0.22 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055879 NA NA NA NA NA 0.428 NA 4.7409333 1178 12 101462039 101462039 A G intronic ANO4 NA NA NA ncRNA_intronic ENSG00000258033 NA NA NA Score=721;Name=lod=1139 NA 12q23.1 NA NA NA NA rs613778 0.74 0.74 0.722 0.779153 0.5924 0.8938 0.7147 0.8442 0.8108 0.58 0.89 0.73 0.81 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489821 NA NA NA NA NA 0.645 NA 4.7409333 1178 16 88666048 88666048 G A intronic ZC3H18 NA NA NA intronic ENSG00000158545 NA NA NA NA NA 16q24.2 NA NA Name=24 NA rs62050304 0.23 0.23 0.197 0.208466 0.2594 0.3462 0.2075 0.059 0.2168 0.25 0.34 0.24 0.07 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025724 NA NA NA NA NA 0.181 NA 4.7406 1178 15 52539673 52539673 C T exonic MYO5C NA synonymous SNV MYO5C:NM_018728:exon15:c.G1863A:p.R621R exonic ENSG00000128833 NA synonymous SNV ENSG00000128833:ENST00000261839:exon15:c.G1863A:p.R621R Score=444;Name=lod=85 NA 15q21.2 Score=947;Name=V$CETS1P54_01 NA NA NA rs10163109 0.88 0.88 0.881 0.863818 0.9901 0.8681 0.8703 0.6944 0.954 0.99 0.86 0.9 0.7 0.9466 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.875954 NA NA 0.989609 0.75271 NA 0.899 NA 4.7403576 1178 14 106877837 106877837 C A intergenic LINC00226,LINC00221 dist=132871;dist=60618 NA NA exonic ENSG00000211959 NA nonsynonymous SNV ENSG00000211959:ENST00000390619:exon2:c.G157T:p.G53C NA NA 14q32.33 NA NA NA NA rs145759866 0.1 0.1 0.097 NA NA NA NA NA NA 0.09 0.06 0.09 0.17 0.0933 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.795826 1.795826 NA NA NA NA NA NA 4.7400334 1178 16 1034954 1034954 T C exonic SOX8 NA synonymous SNV SOX8:NM_014587:exon3:c.T909C:p.Y303Y exonic ENSG00000005513 NA synonymous SNV ENSG00000005513:ENST00000293894:exon3:c.T909C:p.Y303Y NA NA 16p13.3 NA NA NA NA rs11542178 0.31 0.31 0.29 0.343051 0.3091 0.1052 0.2867 0.5772 0.3466 0.31 0.11 0.26 0.58 0.3395 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057154 NA NA 0.27813 0.558498 NA 0.246 NA 4.7399366 1178 6 163378291 163378291 G A intronic PACRG NA NA NA ncRNA_exonic ENSG00000217557 NA NA NA Score=618;Name=lod=434 NA 6q26 NA NA NA NA rs7765189 0.52 0.52 0.501 0.517971 0.5934 0.5099 0.4986 0.3843 0.6431 0.59 0.54 0.55 0.38 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427342 NA NA NA NA NA 0.572 NA 4.7399333 1178 13 20398669 20398669 T C exonic ZMYM5 NA nonsynonymous SNV ZMYM5:NM_001142684:exon8:c.A1958G:p.H653R exonic ENSG00000132950 NA nonsynonymous SNV ENSG00000132950:ENST00000502168:exon6:c.A1928G:p.H643R,ENSG00000132950:ENST00000337963:exon8:c.A1958G:p.H653R NA NA 13q12.11 NA NA NA NA rs9508907 0.82 0.82 0.819 0.798522 0.8628 0.9554 0.8386 0.5378 0.8947 0.89 0.98 0.81 0.55 0.865 0.98 0.61 T 0.139 B 0.026 B 0.079 N 1.000 P 0.55 N 2.32 T -0.998 T 0.000 T 0.041 -0.946 0.35 1.38 0.039 -0.032 6.692 -0.945577 NA 0.83 0.865857 0.601722 NA 0.761 NA 4.7396764 1178 1 248112915 248112915 A G exonic OR2L8 NA synonymous SNV OR2L8:NM_001001963:exon1:c.A756G:p.A252A exonic ENSG00000196936 NA synonymous SNV ENSG00000196936:ENST00000357191:exon1:c.A756G:p.A252A NA NA 1q44 NA NA NA NA rs10888280 0.3 0.3 0.232 0.309904 0.2952 0.4216 0.3458 0.1354 0.4202 0.3 0.4 0.36 0.13 0.3268 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.582073 NA NA 0.305026 0.152746 NA 0.123 NA 4.7396406 1178 1 146523303 146523303 C T intergenic LOC728989,PRKAB2 dist=8704;dist=103382 NA NA ncRNA_exonic ENSG00000225603 NA NA NA Score=658;Name=lod=629 NA 1q21.1 NA NA NA NA rs12723253 0.15 0.15 0.153 0.124601 0.2604 0.0268 0.1369 0.1218 0.0808 0.27 0.02 0.17 0.11 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061628 NA NA NA NA NA 0.181 NA 4.7396 1178 1 161187665 161187665 C T intronic FCER1G NA NA NA intronic ENSG00000158869 NA NA NA NA NA 1q23.3 Score=793;Name=V$SRF_C NA NA NA rs2070902 0.35 0.35 0.341 0.367812 0.2604 0.3968 0.353 0.41 0.4018 0.26 0.41 0.32 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645462 NA NA NA NA NA 0.319 NA 4.7396 1178 2 47273668 47273668 G A intronic TTC7A NA NA NA intronic ENSG00000068724 NA NA NA NA NA 2p21 NA NA Name=16 NA rs12712986 0.25 0.25 0.261 0.228235 0.2604 0.1647 0.2248 0.2973 0.1697 0.27 0.21 0.24 0.28 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815559 NA NA NA NA NA 0.312 NA 4.7396 1178 2 101627852 101627852 C T intronic RPL31,TBC1D8 NA NA NA intronic ENSG00000071082,ENSG00000204634 NA NA NA NA NA 2q11.2 NA Name=Pol2 NA NA rs1062059 0.2 0.2 0.183 0.153554 0.2604 0.125 0.1902 0.0953 0.1258 0.27 0.18 0.22 0.11 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.074356 NA NA NA NA NA 0.246 NA 4.7396 1178 12 99640557 99640557 T C exonic ANKS1B NA synonymous SNV ANKS1B:NM_152788:exon13:c.A1842G:p.P614P exonic ENSG00000185046 NA synonymous SNV ENSG00000185046:ENST00000547010:exon6:c.A582G:p.P194P,ENSG00000185046:ENST00000329257:exon13:c.A1842G:p.P614P,ENSG00000185046:ENST00000547776:exon13:c.A1842G:p.P614P Score=609;Name=lod=399 NA 12q23.1 NA NA NA NA rs1552759 0.62 0.62 0.593 0.632188 0.6083 0.9087 0.647 0.3003 0.8098 0.61 0.91 0.6 0.31 0.6622 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820339 NA NA 0.65708 0.362447 NA 0.558 NA 4.7390866 1178 19 58291228 58291228 A G UTR3 ZNF586 NM_001077426:c.*513A>G,NM_001204814:c.*64A>G,NM_017652:c.*64A>G NA NA UTR3 ENSG00000083828 ENST00000391702:c.*64A>G,ENST00000396154:c.*64A>G,ENST00000396150:c.*513A>G NA NA Score=309;Name=lod=24 NA 19q13.43 NA NA NA NA rs2158013 0.72 0.72 0.727 0.682308 0.5944 0.7113 0.6715 0.9516 0.3865 0.6 0.7 0.67 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11808 NA NA NA NA NA 0.703 NA 4.7389334 1178 7 157931119 157931119 A G exonic PTPRN2 NA synonymous SNV PTPRN2:NM_130842:exon6:c.T948C:p.A316A,PTPRN2:NM_002847:exon7:c.T999C:p.A333A,PTPRN2:NM_130843:exon7:c.T999C:p.A333A exonic ENSG00000155093 NA synonymous SNV ENSG00000155093:ENST00000389416:exon6:c.T948C:p.A316A,ENSG00000155093:ENST00000409483:exon6:c.T885C:p.A295A,ENSG00000155093:ENST00000389413:exon7:c.T999C:p.A333A,ENSG00000155093:ENST00000389418:exon7:c.T999C:p.A333A,ENSG00000155093:ENST00000404321:exon7:c.T1068C:p.A356A NA NA 7q36.3 NA NA NA NA rs1130500 0.41 0.41 0.39 0.378794 0.2903 0.4663 0.4409 0.4516 0.2372 0.3 0.53 0.37 0.49 0.3423 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330528 NA NA 0.295349 0.448025 NA 0.428 NA 4.7387176 1178 6 51275042 51275042 T C intergenic TFAP2B,PKHD1 dist=459716;dist=205103 NA NA ncRNA_exonic ENSG00000232702 NA NA NA Score=811;Name=lod=2647 NA 6p12.3 NA NA NA NA rs62458490 0.33 0.33 0.287 0.335863 0.2614 0.255 0.5072 0.3956 0.2935 0.26 0.26 0.47 0.41 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427201 NA NA NA NA ID=COSM150103;OCCURENCE=1(stomach) 0.362 NA 4.7386 1178 8 22069018 22069018 C T intronic BMP1 NA NA NA intronic ENSG00000168487 NA NA NA NA NA 8p21.3 NA Name=STAT3 NA NA rs11778448 0.2 0.2 0.183 0.189696 0.2614 0.0079 0.1441 0.3684 0.0941 0.26 0.0035 0.15 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388069 NA NA NA NA NA 0.261 NA 4.7386 1178 11 57369730 57369730 G A intronic SERPING1 NA NA NA intronic ENSG00000149131 NA NA NA NA NA 11q12.1 NA NA NA NA rs11229063 0.17 0.17 0.16 0.147364 0.2614 0.0952 0.1643 0.0855 0.1554 0.25 0.11 0.18 0.09 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.504247 3.504247 NA NA NA NA 0.087 CLINSIG=other;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000077812.1;CLNDSDB=.;CLNDSDBID=. 4.7386 1178 13 95410508 95410508 G T intergenic SOX21,ABCC4 dist=46119;dist=261575 NA NA ncRNA_exonic ENSG00000235768 NA NA NA Score=602;Name=lod=372 NA 13q32.1 NA NA NA NA rs4773813 0.22 0.22 0.218 0.203075 0.2614 0.0883 0.232 0.2806 0.136 0.25 0.08 0.28 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141449 NA NA NA NA NA 0.348 NA 4.7386 1178 16 81941444 81941444 C T intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA Name=NF-YB NA NA rs71400183 0.19 0.19 0.167 0.191494 0.2614 0.1339 0.1816 0.1445 0.2495 0.24 0.15 0.2 0.16 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819185 NA NA NA NA NA 0.116 NA 4.7386 1178 14 81288989 81288989 G C intronic CEP128 NA NA NA ncRNA_exonic ENSG00000258452 NA NA NA Score=505;Name=lod=151 NA 14q31.1 NA NA NA NA rs9323694 0.65 0.65 0.588 0.610823 0.5954 0.8115 0.6225 0.5772 0.4571 0.59 0.8 0.62 0.57 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268714 NA 1 NA NA NA 0.58 NA 4.7379333 1178 3 42750446 42750446 G A UTR3 CCDC13 NM_144719:c.*26C>T NA NA UTR3 ENSG00000244607 ENST00000310232:c.*26C>T NA NA NA NA 3p22.1 NA NA Name=2 NA rs2240860 0.25 0.25 0.258 0.245407 0.1899 0.2956 0.2089 0.2247 0.3047 0.19 0.32 0.23 0.27 0.2213 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221397 NA NA 0.184302 0.241262 NA 0.239 NA 4.7378314 1178 22 25045855 25045855 G A ncRNA_exonic BCRP3 NA NA NA ncRNA_exonic ENSG00000215481 NA NA NA Score=608;Name=lod=393 NA 22q11.23 NA NA NA NA rs738818 0.45 0.45 0.419 0.499601 0.4543 0.3651 0.5418 0.7519 0.3139 0.4 0.28 0.47 0.69 0.4746 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173082 NA NA NA NA ID=COSN166725;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(liver) NA NA 4.7377666 1178 2 97544089 97544089 G C intronic FAM178B NA NA NA intronic ENSG00000168754 NA NA NA NA NA 2q11.2 NA NA Name=3 NA rs6750988 0.5 0.5 0.467 0.567093 0.2624 0.7202 0.5245 0.5303 0.8027 0.27 0.76 0.49 0.55 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328845 NA NA NA NA NA 0.399 NA 4.7376 1178 16 10776063 10776063 G T intronic TEKT5 NA NA NA intronic ENSG00000153060 NA NA NA NA NA 16p13.13 NA Name=HNF4A_(H-171),CEBPB,HNF4G_(SC-6558) NA NA rs10221071 0.3 0.3 0.32 0.32508 0.2624 0.25 0.2219 0.4811 0.3292 0.27 0.28 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436641 NA NA NA NA NA 0.377 NA 4.7376 1178 4 1729425 1729425 C G intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA Name=c-Jun,c-Fos,STAT3,JunD Name=115 NA rs2592828 0.32 0.32 0.315 0.309505 0.4394 0.1597 0.3199 0.3359 0.2873 0.44 0.18 0.32 0.31 0.3799 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.412263 NA NA 0.443217 0.355897 NA 0.435 NA 4.737483 1178 7 89938588 89938588 C G exonic C7orf63 NA nonsynonymous SNV C7orf63:NM_001039706:exon22:c.C2562G:p.S854R,C7orf63:NM_001160138:exon22:c.C2508G:p.S836R exonic ENSG00000105792 NA nonsynonymous SNV ENSG00000105792:ENST00000449577:exon10:c.C1173G:p.S391R,ENSG00000105792:ENST00000316089:exon21:c.C2424G:p.S808R,ENSG00000105792:ENST00000389297:exon22:c.C2562G:p.S854R,ENSG00000105792:ENST00000497910:exon22:c.C2508G:p.S836R NA NA 7q21.13 NA NA NA NA rs7803620 0.91 0.91 0.908 0.922125 0.8688 0.999 0.8963 0.8933 0.955 0.88 1 0.89 0.87 0.8841 1 1 T 0.0 B 0.001 B 0.047 N 1.000 P -1.67 N 2.6 T -1.006 T 0.000 T 0.218 -2.166 0.005 -1.07 -0.568 0.391 2.532 -2.165806 NA 1 0.842973 0.883092 NA 0.899 NA 4.7374604 1178 11 64026144 64026144 G A exonic PLCB3 NA synonymous SNV PLCB3:NM_001184883:exon9:c.G1011A:p.S337S,PLCB3:NM_000932:exon11:c.G1212A:p.S404S exonic ENSG00000149782 NA synonymous SNV ENSG00000149782:ENST00000325234:exon9:c.G1011A:p.S337S,ENSG00000149782:ENST00000279230:exon11:c.G1212A:p.S404S,ENSG00000149782:ENST00000540288:exon11:c.G1212A:p.S404S Score=507;Name=lod=154 NA 11q13.1 NA NA NA NA rs2244625 0.43 0.43 0.412 0.408946 0.667 0.2688 0.5202 0.1611 0.544 0.68 0.27 0.53 0.17 0.5813 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291422 NA NA 0.68094 0.240118 NA 0.514 NA 4.7374266 1178 8 6303025 6303025 G A exonic MCPH1 NA synonymous SNV MCPH1:NM_001172575:exon7:c.G1638A:p.T546T,MCPH1:NM_001172574:exon8:c.G1782A:p.T594T,MCPH1:NM_024596:exon8:c.G1782A:p.T594T exonic ENSG00000147316 NA synonymous SNV ENSG00000147316:ENST00000522905:exon7:c.G1638A:p.T546T,ENSG00000147316:ENST00000344683:exon8:c.G1782A:p.T594T,ENSG00000147316:ENST00000519480:exon8:c.G1782A:p.T594T NA NA 8p23.1 NA NA NA NA rs2584 0.18 0.18 0.149 0.132188 0.338 0.0268 0.245 0.0174 0.1043 0.36 0.03 0.28 0.02 0.2616 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160802 NA NA 0.329678 0.066275 NA 0.145 NA 4.7373886 1178 4 94316763 94316763 T G exonic GRID2 NA synonymous SNV GRID2:NM_001510:exon9:c.T1251G:p.G417G exonic ENSG00000152208 NA synonymous SNV ENSG00000152208:ENST00000510992:exon8:c.T966G:p.G322G,ENSG00000152208:ENST00000282020:exon9:c.T1251G:p.G417G Score=621;Name=lod=446 NA 4q22.2 NA NA NA NA rs1385405 0.72 0.72 0.716 0.75599 0.6272 0.7331 0.5951 0.9599 0.7505 0.61 0.7 0.62 0.96 0.6722 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015198 NA NA 0.630147 0.921471 ID=COSM1130993;OCCURENCE=1(prostate) 0.746 NA 4.7371196 1178 20 6751034 6751034 A G exonic BMP2 NA synonymous SNV BMP2:NM_001200:exon2:c.A261G:p.S87S exonic ENSG00000125845 NA synonymous SNV ENSG00000125845:ENST00000378827:exon2:c.A261G:p.S87S Score=682;Name=lod=789 NA 20p12.3 NA NA NA NA rs1049007 0.75 0.75 0.739 0.746006 0.6262 0.8433 0.7291 0.8964 0.5777 0.63 0.82 0.69 0.89 0.6723 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.055089 NA NA 0.631224 0.858701 ID=COSM444257;OCCURENCE=3(breast),1(large_intestine) 0.652 NA 4.7369426 1178 2 171910256 171910256 T C intronic TLK1 NA NA NA intronic ENSG00000198586 NA NA NA NA NA 2q31.1 NA NA Name=2 NA rs73027271 0.11 0.11 0.112 0.111621 0.0865 NA 0.0865 0.3018 0.0133 0.08 NA 0.11 0.29 0.0856 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281615 NA NA 0.091047 0.243078 NA 0.167 NA 4.736853 1178 3 27332302 27332302 G T intronic NEK10 NA NA NA intronic ENSG00000163491 NA NA NA NA NA 3p24.1 NA NA Name=23 NA rs674798 0.36 0.36 0.377 0.389776 0.2634 0.1776 0.2608 0.8502 0.2076 0.25 0.14 0.27 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074142 NA NA NA NA NA 0.457 NA 4.7366 1178 5 74178511 74178511 C T intergenic FAM169A,GCNT4 dist=15848;dist=144778 NA NA ncRNA_exonic ENSG00000212363 NA NA NA Score=378;Name=lod=46 NA 5q13.3 NA NA NA NA rs6872607 0.39 0.39 0.376 0.403554 0.2634 0.1935 0.3357 0.8714 0.18 0.24 0.17 0.37 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.685222 2.685222 NA NA NA NA 0.478 NA 4.7366 1178 14 70527420 70527420 G A intronic SLC8A3 NA NA NA intronic ENSG00000100678 NA NA NA Score=383;Name=lod=48 NA 14q24.2 NA NA NA NA rs45554836 0.08 0.08 0.081 0.0752796 0.0934 NA 0.0375 0.1604 0.046 0.1 NA 0.04 0.16 0.0852 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.616462 1.616462 NA 0.084882 0.141553 NA 0.072 NA 4.736518 1178 14 106877836 106877836 C T intergenic LINC00226,LINC00221 dist=132870;dist=60619 NA NA exonic ENSG00000211959 NA nonsynonymous SNV ENSG00000211959:ENST00000390619:exon2:c.G158A:p.G53D NA NA 14q32.33 NA NA NA NA rs143740707 0.11 0.11 0.103 0.00219649 0.005 0.002 0.0014 0.0015 0.001 0.09 0.07 0.09 0.18 0.0922 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241235 NA NA NA NA NA 0.007 NA 4.7361334 1178 22 32587023 32587023 C G exonic RFPL2 NA synonymous SNV RFPL2:NM_006605:exon2:c.G690C:p.T230T,RFPL2:NM_001159545:exon4:c.G603C:p.T201T,RFPL2:NM_001159546:exon4:c.G603C:p.T201T,RFPL2:NM_001098527:exon5:c.G873C:p.T291T exonic ENSG00000128253 NA synonymous SNV ENSG00000128253:ENST00000248980:exon2:c.G690C:p.T230T,ENSG00000128253:ENST00000248983:exon4:c.G603C:p.T201T,ENSG00000128253:ENST00000400236:exon5:c.G603C:p.T201T,ENSG00000128253:ENST00000400237:exon5:c.G873C:p.T291T NA NA 22q12.3 NA NA NA NA rs16987639 0.41 0.41 0.397 0.484026 0.493 0.1498 0.3804 0.8631 0.3804 0.43 0.12 0.33 0.77 0.4376 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742353 NA NA NA NA NA 0.529 NA 4.7360666 1178 5 169568846 169568846 C T intergenic FOXI1,C5orf58 dist=32117;dist=91104 NA NA ncRNA_exonic ENSG00000253219 NA NA NA Score=385;Name=lod=49 NA 5q35.1 NA NA NA NA rs7729559 0.17 0.17 0.158 0.169329 0.2644 0.1052 0.304 0.0189 0.2454 0.25 0.11 0.28 0.03 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316914 NA NA NA NA NA 0.174 NA 4.7356 1178 10 81061724 81061724 G A intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA Name=ZNF263 NA NA rs10824740 0.31 0.31 0.312 0.347244 0.2644 0.1508 0.4352 0.5643 0.2791 0.26 0.13 0.37 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168262 NA NA NA NA NA 0.312 NA 4.7356 1178 12 124102216 124102216 G A intronic DDX55 NA NA NA intronic ENSG00000111364 NA NA NA NA NA 12q24.31 NA Name=Pol2-4H8 NA NA rs7137473 0.24 0.24 0.238 0.252196 0.2644 0.0159 0.2205 0.4463 0.2434 0.26 0.02 0.21 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094886 NA NA NA NA NA 0.232 NA 4.7356 1178 18 8248041 8248041 G T intronic PTPRM NA NA NA intronic ENSG00000173482 NA NA NA Score=304;Name=lod=23 NA 18p11.23 NA NA NA NA rs12964764 0.22 0.22 0.191 0.198083 0.2644 0.1647 0.3084 0.1475 0.1544 0.27 0.16 0.29 0.15 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533572 NA NA NA NA NA 0.319 NA 4.7356 1178 7 150440043 150440043 C T exonic GIMAP1-GIMAP5,GIMAP5 NA synonymous SNV GIMAP5:NM_018384:exon3:c.C816T:p.L272L,GIMAP1-GIMAP5:NM_001199577:exon6:c.C1428T:p.L476L exonic ENSG00000196329 NA synonymous SNV ENSG00000196329:ENST00000358647:exon3:c.C816T:p.L272L NA NA 7q36.1 NA NA NA NA rs1046355 0.36 0.36 0.355 0.35024 0.3082 0.3006 0.2565 0.5363 0.2597 0.31 0.3 0.3 0.54 0.3166 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274475 NA NA 0.306744 0.529732 NA 0.457 NA 4.7351226 1179 5 179729519 179729519 A G exonic GFPT2 NA synonymous SNV GFPT2:NM_005110:exon18:c.T1908C:p.I636I exonic ENSG00000131459 NA synonymous SNV ENSG00000131459:ENST00000253778:exon18:c.T1908C:p.I636I Score=433;Name=lod=77 NA 5q35.3 NA NA NA NA rs1035411 0.74 0.74 0.739 0.711262 0.6571 0.9048 0.6527 0.6952 0.6309 0.66 0.93 0.65 0.7 0.6553 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751445 NA NA 0.619609 0.717577 NA 0.717 NA 4.7346576 1179 19 46352203 46352203 C T intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA Name=CTCF NA NA rs2303013 0.23 0.23 0.219 0.234425 0.2654 0.1647 0.2925 0.211 0.2648 0.26 0.17 0.26 0.23 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30292 NA NA NA NA NA 0.21 NA 4.7346 1179 21 20617291 20617291 G T intergenic TMPRSS15,LINC00320 dist=841321;dist=1497622 NA NA ncRNA_exonic ENSG00000226818 NA NA NA Score=721;Name=lod=1138 NA 21q21.1 NA NA NA NA rs9980261 0.4 0.4 0.397 0.378395 0.2654 0.4107 0.3343 0.5825 0.2168 0.28 0.42 0.34 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286067 NA NA NA NA NA 0.478 NA 4.7346 1179 21 20618024 20618024 T C intergenic TMPRSS15,LINC00320 dist=842054;dist=1496889 NA NA ncRNA_exonic ENSG00000226818 NA NA NA Score=813;Name=lod=2694 NA 21q21.1 NA NA NA NA rs2070524 0.39 0.39 0.388 0.362819 0.2654 0.4077 0.3213 0.5318 0.2178 0.27 0.41 0.33 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602358 NA NA NA NA NA 0.457 NA 4.7346 1179 7 138305806 138305806 T C exonic SVOPL NA synonymous SNV SVOPL:NM_174959:exon10:c.A882G:p.A294A,SVOPL:NM_001139456:exon13:c.A1338G:p.A446A exonic ENSG00000157703 NA synonymous SNV ENSG00000157703:ENST00000288513:exon9:c.A882G:p.A294A,ENSG00000157703:ENST00000441685:exon9:c.A597G:p.A199A,ENSG00000157703:ENST00000421622:exon10:c.A978G:p.A326A,ENSG00000157703:ENST00000436657:exon10:c.A882G:p.A294A,ENSG00000157703:ENST00000419765:exon13:c.A1338G:p.A446A NA NA 7q34 NA NA NA NA rs3734944 0.29 0.29 0.242 0.263379 0.3141 0.3919 0.3444 0.0915 0.2536 0.32 0.4 0.33 0.08 0.2996 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753564 NA NA 0.318488 0.123468 NA 0.196 NA 4.7344786 1179 17 5126674 5126674 A G exonic SCIMP NA synonymous SNV SCIMP:NM_001271842:exon2:c.T99C:p.G33G,SCIMP:NM_207103:exon2:c.T99C:p.G33G exonic ENSG00000161929 NA synonymous SNV ENSG00000161929:ENST00000399600:exon2:c.T99C:p.G33G,ENSG00000161929:ENST00000571800:exon2:c.T99C:p.G33G,ENSG00000161929:ENST00000574081:exon2:c.T99C:p.G33G,ENSG00000161929:ENST00000574297:exon2:c.T99C:p.G33G NA NA 17p13.2 NA Name=Pol2 NA NA rs2641256 0.48 0.48 0.448 0.437899 0.66 0.3542 0.6354 0.3268 0.3057 0.65 0.33 0.65 0.29 0.5788 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.359502 2.359502 NA 0.693529 0.370077 NA 0.572 NA 4.7343376 1179 4 155461113 155461113 T C exonic PLRG1 NA synonymous SNV PLRG1:NM_001201564:exon11:c.A1005G:p.Q335Q,PLRG1:NM_002669:exon11:c.A1032G:p.Q344Q exonic ENSG00000171566 NA synonymous SNV ENSG00000171566:ENST00000302078:exon11:c.A1005G:p.Q335Q,ENSG00000171566:ENST00000393905:exon11:c.A1032G:p.Q344Q,ENSG00000171566:ENST00000499023:exon11:c.A1032G:p.Q344Q NA NA 4q31.3 NA NA NA NA rs7671792 0.21 0.21 0.212 0.231629 0.325 0.1438 0.1888 0.1536 0.362 0.3 0.13 0.21 0.15 0.2785 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75598 NA NA 0.328953 0.178847 NA 0.225 NA 4.7342136 1179 4 89670155 89670155 C T exonic FAM13A NA synonymous SNV FAM13A:NM_001265580:exon9:c.G1047A:p.P349P,FAM13A:NM_001265578:exon10:c.G1089A:p.P363P,FAM13A:NM_001015045:exon11:c.G1131A:p.P377P,FAM13A:NM_001265579:exon11:c.G1131A:p.P377P,FAM13A:NM_014883:exon17:c.G2109A:p.P703P exonic ENSG00000138640 NA synonymous SNV ENSG00000138640:ENST00000513837:exon9:c.G1047A:p.P349P,ENSG00000138640:ENST00000503556:exon10:c.G1089A:p.P363P,ENSG00000138640:ENST00000395002:exon11:c.G1131A:p.P377P,ENSG00000138640:ENST00000508369:exon11:c.G1131A:p.P377P,ENSG00000138640:ENST00000511976:exon11:c.G867A:p.P289P,ENSG00000138640:ENST00000264344:exon17:c.G2109A:p.P703P NA NA 4q22.1 NA NA NA NA rs3756050 0.47 0.47 0.487 0.533946 0.2793 0.5446 0.2896 0.8094 0.5859 0.29 0.56 0.28 0.79 0.3749 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405329 NA NA 0.278256 0.722197 NA 0.486 NA 4.7342106 1179 2 160604452 160604452 C T exonic MARCH7 NA synonymous SNV MARCH7:NM_022826:exon5:c.C651T:p.D217D exonic ENSG00000136536 NA synonymous SNV ENSG00000136536:ENST00000409591:exon4:c.C537T:p.D179D,ENSG00000136536:ENST00000539065:exon4:c.C483T:p.D161D,ENSG00000136536:ENST00000259050:exon5:c.C651T:p.D217D,ENSG00000136536:ENST00000409175:exon7:c.C651T:p.D217D NA NA 2q24.2 NA NA NA NA rs11555185 0.27 0.27 0.235 0.220447 0.33 0.2698 0.4928 0.0287 0.1227 0.33 0.29 0.45 0.03 0.2872 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145718 NA NA 0.315698 0.069224 ID=COSM148965;OCCURENCE=1(stomach),1(large_intestine) 0.341 NA 4.7337686 1179 1 32164206 32164206 T G exonic COL16A1 NA synonymous SNV COL16A1:NM_001856:exon5:c.A268C:p.R90R exonic ENSG00000084636 NA synonymous SNV ENSG00000084636:ENST00000271069:exon5:c.A268C:p.R90R,ENSG00000084636:ENST00000373668:exon5:c.A268C:p.R90R,ENSG00000084636:ENST00000373672:exon5:c.A268C:p.R90R Score=452;Name=lod=92 NA 1p35.2 NA NA NA NA rs2228550 0.59 0.59 0.586 0.625799 0.6541 0.3472 0.6599 0.82 0.5971 0.65 0.3 0.61 0.82 0.6289 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.080767 2.080767 NA 0.650012 0.791455 NA 0.623 NA 4.7336546 1179 1 92000804 92000804 T G intergenic CDC7,TGFBR3 dist=9483;dist=145096 NA NA ncRNA_exonic ENSG00000241318 NA NA NA Score=795;Name=lod=2267 NA 1p22.1 NA NA NA NA rs12759236 0.35 0.35 0.345 0.33746 0.2664 0.4851 0.2839 0.2995 0.3476 0.27 0.49 0.35 0.33 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095936 NA NA NA NA NA 0.333 NA 4.7336 1179 1 201079235 201079235 C T intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs1325310 0.39 0.39 0.383 0.403754 0.2664 0.6399 0.4179 0.3056 0.4243 0.27 0.63 0.38 0.31 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151166 NA NA NA NA NA 0.268 CLINSIG=other;CLNDBN=Thyrotoxic_periodic_paralysis;CLNREVSTAT=single;CLNACC=RCV000019195.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0268446:188580:ORPHA79102:30967002 4.7336 1179 14 88983670 88983670 G A intronic PTPN21 NA NA NA intronic ENSG00000070778 NA NA NA NA NA 14q31.3 NA NA Name=10 NA rs10150986 0.37 0.37 0.391 0.384984 0.2664 0.3948 0.2594 0.5514 0.3609 0.28 0.37 0.27 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43515 NA NA NA NA NA 0.486 NA 4.7336 1179 15 41810439 41810439 G C intronic RPAP1 NA NA NA UTR3 ENSG00000103932 ENST00000562303:c.*890C>G NA NA NA NA 15q15.1 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058),HNF4A,SP1,HNF4A_(H-171),FOXA1_(C-20) NA NA rs932959 0.32 0.32 0.307 0.299321 0.4334 0.2768 0.3285 0.1248 0.3998 0.43 0.31 0.33 0.13 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484469 NA NA NA NA NA 0.29 NA 4.7332667 1179 2 61175312 61175312 T C exonic PUS10 NA synonymous SNV PUS10:NM_144709:exon16:c.A1317G:p.K439K exonic ENSG00000162927 NA synonymous SNV ENSG00000162927:ENST00000316752:exon16:c.A1317G:p.K439K,ENSG00000162927:ENST00000407787:exon16:c.A1317G:p.K439K Score=420;Name=lod=68 NA 2p16.1 NA NA NA NA rs12479056 0.51 0.51 0.503 0.455471 0.6889 0.1687 0.5274 0.5696 0.3057 0.67 0.19 0.6 0.57 0.568 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842092 NA NA 0.67686 0.606673 NA 0.572 NA 4.7329066 1179 14 107170077 107170077 C T intergenic LINC00221,NONE dist=218548;dist=NONE NA NA exonic ENSG00000211973 NA nonsynonymous SNV ENSG00000211973:ENST00000390633:exon2:c.G205A:p.G69R NA NA 14q32.33 NA NA Name=5 NA rs11845244 0.39 0.39 0.346 0.419928 0.3628 0.4752 0.4078 0.3162 0.5706 0.35 0.45 0.42 0.34 0.4012 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.480368 NA 0.24 0.336589 0.230247 NA 0.377 NA 4.7327444 1179 1 209824099 209824099 G C intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA NA Name=47 NA rs2076360 0.29 0.29 0.278 0.305911 0.2674 0.3383 0.4092 0.2383 0.3303 0.26 0.32 0.35 0.24 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666099 NA NA NA NA NA 0.261 NA 4.7326 1179 2 14139272 14139272 T C intergenic LOC100506474,FAM84A dist=992134;dist=633538 NA NA ncRNA_intronic ENSG00000230448 NA NA NA Score=444;Name=lod=85 NA 2p24.3 NA NA NA NA rs34740797 0.16 0.16 0.147 0.161142 0.2674 0.0308 0.196 0.0454 0.318 0.27 0.04 0.24 0.06 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141916 NA NA NA NA NA 0.203 NA 4.7326 1179 6 158662950 158662950 A C intergenic GTF2H5,TULP4 dist=42574;dist=70742 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=652;Name=lod=598 NA 6q25.3 NA NA NA NA rs9459762 0.14 0.14 0.122 0.105631 0.2674 0.0119 0.121 0.0567 0.091 0.27 0.01 0.15 0.08 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81953 NA NA NA NA NA 0.145 NA 4.7326 1179 6 158663019 158663019 A G intergenic GTF2H5,TULP4 dist=42643;dist=70673 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=652;Name=lod=598 NA 6q25.3 NA NA NA NA rs9459763 0.14 0.14 0.127 0.105631 0.2674 0.0119 0.121 0.0567 0.091 0.27 0.01 0.15 0.08 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338795 NA NA NA NA NA 0.145 NA 4.7326 1179 22 38503847 38503847 C T intronic BAIAP2L2 NA NA NA intronic ENSG00000128298 NA NA NA NA NA 22q13.1 Score=888;Name=V$AP2_Q6 Name=TCF4 Name=22 NA rs6001006 0.78 0.78 0.794 0.822284 0.7376 0.6974 0.8545 0.9198 0.8834 0.74 0.66 0.86 0.91 0.7804 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355315 NA NA 0.749821 0.886899 NA 0.833 NA 4.732179 1179 20 18393275 18393275 C T intronic DZANK1 NA NA NA intronic ENSG00000089091 NA NA NA NA NA 20p11.23 NA Name=Pol2 Name=7 NA rs59695827 0.28 0.28 0.266 0.289936 0.4483 0.122 0.2867 0.2163 0.4018 0.44 0.13 0.31 0.17 0.3768 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263264 NA NA 0.442944 0.243747 NA 0.428 NA 4.731956 1179 8 6335208 6335208 T C intronic MCPH1 NA NA NA intronic ENSG00000147316 NA NA NA NA NA 8p23.1 NA NA Name=69 NA rs2277136 0.14 0.14 0.148 0.152556 0.1402 0.1825 0.1052 0.1399 0.1851 0.13 0.18 0.1 0.14 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527681 NA NA 0.127987 0.11922 NA 0.203 NA 4.731813 1179 1 26497340 26497340 A C UTR3 ZNF593 NM_015871:c.*133A>C NA NA ncRNA_UTR3 ENSG00000142684 NA NA NA NA NA 1p36.11 NA NA Name=2 NA rs8768 0.83 0.83 0.817 0.840855 0.7684 0.9712 0.8559 0.7549 0.8865 0.76 0.98 0.83 0.77 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.112294 2.112294 NA NA NA NA 0.848 NA 4.7316 1179 14 66480247 66480247 C T intergenic FUT8,LINC00238 dist=269408;dist=472862 NA NA ncRNA_exonic ENSG00000224861 NA NA NA Score=840;Name=lod=3458 NA 14q23.3 NA NA NA NA rs1807442 NA NA NA 0.328275 0.2684 0.1756 0.3127 0.6074 0.181 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.826638 1.826638 NA NA NA NA NA NA 4.7316 1179 14 66480248 66480248 A C intergenic FUT8,LINC00238 dist=269409;dist=472861 NA NA ncRNA_exonic ENSG00000224861 NA NA NA Score=840;Name=lod=3458 NA 14q23.3 NA NA NA NA rs1807441 NA NA NA 0.329273 0.2684 0.1756 0.3127 0.6112 0.181 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.993955 1.993955 NA NA NA ID=COSM147797;OCCURENCE=1(stomach) NA NA 4.7316 1179 17 61763031 61763031 G C intronic MAP3K3 NA NA NA intronic ENSG00000198909 NA NA NA NA Name=Height 17q23.3 NA NA NA NA rs11658329 0.32 0.32 0.342 0.335863 0.2684 0.0496 0.2378 0.7943 0.1503 0.26 0.05 0.24 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154646 NA NA NA NA NA 0.319 NA 4.7316 1179 1 146554147 146554147 C T intergenic LOC728989,PRKAB2 dist=39548;dist=72538 NA NA ncRNA_exonic ENSG00000230832 NA NA NA Score=632;Name=lod=493 NA 1q21.1 NA NA NA NA rs12129691 0.16 0.16 0.158 0.1252 0.2694 0.0268 0.1354 0.118 0.0808 0.28 0.02 0.17 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768175 NA NA NA NA NA 0.174 NA 4.7306 1179 1 156280671 156280671 A T intronic CCT3 NA NA NA intronic ENSG00000163468 NA NA NA NA NA 1q22 NA Name=GATA-2 NA NA rs10908500 0.21 0.21 0.187 0.20627 0.2694 0.2262 0.2795 0.0923 0.2229 0.27 0.23 0.23 0.09 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855265 NA NA NA NA NA 0.217 NA 4.7306 1179 6 70894894 70894894 C A intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 Score=844;Name=V$TST1_01 NA NA NA rs2296006 0.21 0.21 0.191 0.197284 0.2694 0.1875 0.1354 0.1467 0.2454 0.27 0.21 0.15 0.15 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364936 NA NA NA NA NA 0.123 NA 4.7306 1179 6 75827028 75827028 T C intronic COL12A1 NA NA NA intronic ENSG00000111799 NA NA NA NA NA 6q13 NA NA Name=43 NA rs17186509 0.12 0.12 0.121 0.104034 0.2694 0.0347 0.1513 0.0151 0.092 0.26 0.03 0.15 0.01 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242124 NA NA NA NA ID=COSN167832;OCCURENCE=1(large_intestine) 0.094 NA 4.7306 1179 7 38695584 38695584 A G intergenic AMPH,FAM183B dist=24417;dist=29362 NA NA ncRNA_exonic ENSG00000227404 NA NA NA Score=731;Name=lod=1245 NA 7p14.1 NA NA NA NA rs10226586 0.25 0.25 0.203 0.245008 0.2694 0.3155 0.3141 0.0983 0.2965 0.27 0.3 0.31 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08474 NA NA NA NA NA 0.341 NA 4.7306 1179 10 115481018 115481018 C T intronic CASP7 NA NA NA intronic ENSG00000165806 NA NA NA NA Name=Vitiligo 10q25.3 NA NA NA NA rs3814231 0.27 0.27 0.266 0.261182 0.2694 0.4127 0.2608 0.1256 0.2802 0.25 0.42 0.28 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129772 NA NA NA NA NA 0.217 NA 4.7306 1179 11 118888831 118888831 T C intronic RPS25 NA NA NA intronic ENSG00000118181 NA NA NA NA NA 11q23.3 NA Name=c-Myc,Egr-1,CTCF_(SC-5916),p300,Max,Pol2 NA NA rs11820805 0.27 0.27 0.263 0.327875 0.2694 0.128 0.2579 0.5159 0.3896 0.26 0.1 0.27 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143494 NA NA NA NA NA 0.384 NA 4.7306 1179 14 52754921 52754921 G A intergenic PTGDR,PTGER2 dist=11479;dist=26095 NA NA ncRNA_exonic ENSG00000261208 NA NA NA Score=576;Name=lod=291 NA 14q22.1 NA NA NA NA rs17831700 0.25 0.25 0.232 0.230831 0.2694 0.1617 0.2896 0.2247 0.229 0.27 0.16 0.32 0.27 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.057573 NA NA NA NA ID=COSN164672;OCCURENCE=1(NS) 0.232 NA 4.7306 1179 19 15763577 15763577 A C intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA Name=NRSF NA NA rs2733750 0.2 0.2 0.188 0.196086 0.2694 0.1558 0.1671 0.1067 0.3037 0.27 0.18 0.2 0.12 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389999 NA NA NA NA NA 0.203 NA 4.7306 1179 17 62385918 62385918 C A intergenic TEX2,PECAM1 dist=45265;dist=10859 NA NA ncRNA_exonic ENSG00000256358 NA NA NA Score=674;Name=lod=728 NA 17q23.3 NA NA NA NA rs71377736 0.05 0.05 0.038 0.0335463 0.0875 NA 0.0432 0.0091 0.0389 0.1 NA 0.06 0.02 0.0765 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511707 NA NA 0.105477 0.020991 NA 0.022 NA 4.730523 1179 14 91636395 91636395 C T exonic C14orf159 NA synonymous SNV C14orf159:NM_001102368:exon5:c.C306T:p.G102G,C14orf159:NM_024952:exon5:c.C306T:p.G102G,C14orf159:NM_001102367:exon6:c.C306T:p.G102G,C14orf159:NM_001102366:exon7:c.C306T:p.G102G,C14orf159:NM_001102369:exon7:c.C306T:p.G102G exonic ENSG00000133943 NA synonymous SNV ENSG00000133943:ENST00000522170:exon4:c.C306T:p.G102G,ENSG00000133943:ENST00000256324:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000428926:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000518871:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000521064:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000521334:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000523771:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000523894:exon5:c.C306T:p.G102G,ENSG00000133943:ENST00000412671:exon6:c.C306T:p.G102G,ENSG00000133943:ENST00000517518:exon6:c.C306T:p.G102G,ENSG00000133943:ENST00000522322:exon6:c.C306T:p.G102G,ENSG00000133943:ENST00000519950:exon7:c.C306T:p.G102G,ENSG00000133943:ENST00000520328:exon7:c.C306T:p.G102G,ENSG00000133943:ENST00000521077:exon7:c.C306T:p.G102G,ENSG00000133943:ENST00000523816:exon7:c.C306T:p.G102G,ENSG00000133943:ENST00000518868:exon8:c.C306T:p.G102G NA NA 14q32.11 NA NA NA NA rs4900071 0.19 0.19 0.167 0.167133 0.3241 0.0585 0.2262 0.1036 0.1616 0.33 0.06 0.24 0.1 0.2756 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220899 NA NA 0.33686 0.161371 ID=COSM433470;OCCURENCE=1(breast) 0.29 NA 4.7301066 1179 14 22636774 22636774 A T intergenic OR4E2,DAD1 dist=502536;dist=397033 NA NA exonic ENSG00000259092 NA nonsynonymous SNV ENSG00000259092:ENST00000557168:exon2:c.A227T:p.K76M NA NA 14q11.2 NA NA NA NA rs34504645 0.06 0.06 0.063 0.0567093 0.0408 NA 0.0331 0.1452 0.0286 0.03 NA 0.04 0.17 0.033 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.461018 2.461018 0.03 0.02992 0.107162 NA NA NA 4.7296134 1179 1 189958874 189958874 T C intergenic NONE,FAM5C dist=NONE;dist=107923 NA NA ncRNA_exonic ENSG00000230987 NA NA NA Score=717;Name=lod=1097 NA 1q31.1 NA NA NA NA rs1730734 0.22 0.22 0.203 0.219649 0.2704 0.1835 0.1931 0.2088 0.2382 0.26 0.2 0.22 0.17 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127707 NA NA NA NA NA 0.268 NA 4.7296 1179 1 189959106 189959106 G T intergenic NONE,FAM5C dist=NONE;dist=107691 NA NA ncRNA_exonic ENSG00000230987 NA NA NA Score=717;Name=lod=1097 NA 1q31.1 NA NA NA NA rs1711762 0.22 0.22 0.209 0.219449 0.2704 0.1825 0.1931 0.2088 0.2382 0.26 0.19 0.22 0.17 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708453 NA NA NA NA NA 0.268 NA 4.7296 1179 5 180710261 180710261 T C intergenic TRIM52,LOC100133331 dist=22142;dist=40246 NA NA ncRNA_intronic ENSG00000248103 NA NA NA NA NA 5q35.3 NA Name=CTCF NA NA rs2545073 0.32 0.32 0.31 0.377396 0.2704 0.3472 0.2579 0.562 0.3538 0.25 0.27 0.24 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5023 NA NA NA NA NA 0.036 NA 4.7296 1179 12 124209332 124209332 T C exonic ATP6V0A2 NA synonymous SNV ATP6V0A2:NM_012463:exon4:c.T426C:p.N142N exonic ENSG00000185344 NA synonymous SNV ENSG00000185344:ENST00000504192:exon1:c.T36C:p.N12N,ENSG00000185344:ENST00000330342:exon4:c.T426C:p.N142N NA NA 12q24.31 NA NA NA NA rs1139789 0.74 0.74 0.728 0.750998 0.6282 0.9474 0.7723 0.7027 0.7249 0.63 0.95 0.74 0.67 0.6792 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121134 NA NA 0.629767 0.679528 NA 0.739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081551.1;CLNDSDB=.;CLNDSDBID=. 4.7294996 1179 6 137540370 137540370 A G intronic IFNGR1 NA NA NA intronic ENSG00000027697 NA NA NA NA NA 6q23.3 NA Name=POU2F2,Pol2-4H8,Sin3Ak-20,Pol2,Oct-2,HEY1,CHD2_(N-1250),TBP Name=12 NA rs7749390 0.45 0.45 0.447 0.502396 0.3917 0.5873 0.3617 0.5015 0.6299 0.39 0.52 0.37 0.49 0.4834 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.82657 1.82657 NA 0.395533 0.492045 NA 0.341 NA 4.729367 1179 6 170627651 170627651 G A exonic FAM120B NA synonymous SNV FAM120B:NM_032448:exon2:c.G1173A:p.T391T exonic ENSG00000112584 NA synonymous SNV ENSG00000112584:ENST00000366751:exon2:c.G1173A:p.T391T,ENSG00000112584:ENST00000476287:exon2:c.G1173A:p.T391T,ENSG00000112584:ENST00000537664:exon2:c.G1242A:p.T414T,ENSG00000112584:ENST00000540480:exon2:c.G1209A:p.T403T NA NA 6q27 NA Name=EBF NA NA rs9460113 0.48 0.48 0.461 0.499201 0.671 0.124 0.5951 0.5749 0.5389 0.66 0.1 0.59 0.56 0.5996 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.57937 1.57937 NA 0.666977 0.572855 NA 0.536 NA 4.7290896 1179 22 32435511 32435511 G A intergenic YWHAH,SLC5A1 dist=81921;dist=3508 NA NA ncRNA_exonic ENSG00000232346 NA NA NA Score=752;Name=lod=1516 NA 22q12.3 NA NA NA NA rs7285301 0.1 0.1 0.103 0.115216 0.0835 0.0685 0.0692 0.2073 0.1043 0.08 0.06 0.08 0.2 0.092 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009424 NA NA 0.095581 0.199728 NA 0.145 NA 4.728919 1179 1 81967962 81967962 T C intergenic NONE,LPHN2 dist=NONE;dist=298120 NA NA ncRNA_exonic ENSG00000227288 NA NA NA Score=691;Name=lod=861 NA 1p31.1 NA NA NA NA rs1044343 0.42 0.42 0.42 0.516573 0.2714 0.5595 0.4207 0.764 0.4581 0.23 0.49 0.38 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407576 NA NA NA NA NA 0.507 NA 4.7286 1179 1 81967987 81967987 T C intergenic NONE,LPHN2 dist=NONE;dist=298095 NA NA ncRNA_exonic ENSG00000227288 NA NA NA Score=691;Name=lod=861 NA 1p31.1 NA NA NA NA rs1324376 0.46 0.46 0.359 0.511981 0.2714 0.5605 0.4164 0.7481 0.4581 0.26 0.53 0.4 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442602 NA NA NA NA NA 0.493 NA 4.7286 1179 7 145280663 145280663 G T intergenic TPK1,CNTNAP2 dist=747517;dist=532790 NA NA ncRNA_exonic ENSG00000231839 NA NA NA Score=593;Name=lod=344 NA 7q35 NA NA NA NA rs17169763 0.29 0.29 0.279 0.283147 0.2714 0.4236 0.3026 0.1082 0.3732 0.27 0.46 0.31 0.11 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.075466 NA NA NA NA NA 0.297 NA 4.7286 1179 15 84722521 84722521 A G intergenic ADAMTSL3,EFTUD1P1 dist=13928;dist=26418 NA NA ncRNA_exonic ENSG00000259609 NA NA NA Score=446;Name=lod=87 NA 15q25.2 NA NA NA NA rs1818950 0.15 0.15 0.13 0.132388 0.2714 0.0546 0.1801 0.0121 0.1984 0.28 0.06 0.2 0.02 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019363 NA NA NA NA NA 0.13 NA 4.7286 1179 17 49579945 49579945 T C intergenic UTP18,CA10 dist=204653;dist=127729 NA NA ncRNA_exonic ENSG00000187504 NA NA NA Score=762;Name=lod=1669 NA 17q21.33 NA NA NA NA rs4527063 0.38 0.38 0.375 0.459864 0.2714 0.2728 0.379 0.7602 0.498 0.27 0.27 0.35 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19018 NA NA NA NA NA 0.413 NA 4.7286 1179 21 37626011 37626011 C T intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA Name=5 NA rs62232368 0.17 0.17 0.171 0.161142 0.2714 0.0367 0.3026 0.1596 0.0777 0.26 0.03 0.3 0.13 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728086 NA NA NA NA NA 0.152 NA 4.7286 1179 14 107113851 107113851 C T intergenic LINC00221,NONE dist=162322;dist=NONE NA NA exonic ENSG00000223648 NA nonsynonymous SNV ENSG00000223648:ENST00000454421:exon2:c.G244A:p.D82N NA NA 14q32.33 NA Name=CTCF NA NA rs2072045 0.49 0.49 0.474 0.573882 0.3857 0.5337 0.4524 0.7194 0.6984 0.36 0.47 0.46 0.73 0.3923 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579628 NA 0.01 0.326982 0.575931 NA 0.464 NA 4.7283514 1179 11 102678441 102678441 G A ncRNA_intronic WTAPP1 NA NA NA ncRNA_exonic ENSG00000256035 NA NA NA Score=753;Name=lod=1535 NA 11q22.2 NA NA NA NA rs504875 0.94 0.94 0.94 0.948083 0.9384 0.9276 0.9597 0.9781 0.9305 0.93 0.91 0.96 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106549 NA NA NA NA NA 0.986 NA 4.7282666 1179 15 76462286 76462286 A G intronic C15orf27 NA NA NA intronic ENSG00000169758 NA NA NA NA NA 15q24.2 NA NA Name=30 NA rs12902022 0.14 0.14 0.104 0.116613 0.1471 0.1657 0.2867 0.0068 0.0624 0.14 0.17 0.24 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020544 NA NA 0.124921 0.024781 NA 0.232 NA 4.727979 1179 5 31823077 31823077 C T intronic PDZD2 NA NA NA ncRNA_exonic ENSG00000224282 NA NA NA Score=669;Name=lod=696 NA 5p13.3 NA NA NA NA rs6888789 0.51 0.51 0.479 0.485823 0.6054 0.2728 0.6095 0.5401 0.4213 0.6 0.31 0.64 0.51 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.003027 NA NA NA NA NA 0.529 NA 4.7279333 1179 5 31823213 31823213 T C intronic PDZD2 NA NA NA ncRNA_exonic ENSG00000224282 NA NA NA Score=582;Name=lod=308 NA 5p13.3 NA NA NA NA rs6870166 0.52 0.52 0.508 0.502396 0.6054 0.2728 0.6182 0.5983 0.4213 0.6 0.31 0.65 0.56 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194247 NA NA NA NA NA 0.529 NA 4.7279333 1179 15 89679515 89679515 G A intronic ABHD2 NA NA NA ncRNA_exonic ENSG00000259699 NA NA NA Score=670;Name=lod=706 NA 15q26.1 NA NA NA NA rs12443471 0.54 0.54 0.535 0.520966 0.6054 0.3958 0.6239 0.5219 0.4888 0.62 0.41 0.65 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545081 NA NA NA NA NA 0.435 NA 4.7279333 1179 19 48737764 48737764 A G exonic CARD8 NA synonymous SNV CARD8:NM_001184900:exon3:c.T246C:p.L82L,CARD8:NM_001184901:exon3:c.T96C:p.L32L,CARD8:NM_001184903:exon4:c.T246C:p.L82L,CARD8:NM_014959:exon4:c.T96C:p.L32L,CARD8:NM_001184902:exon6:c.T246C:p.L82L exonic ENSG00000105483 NA synonymous SNV ENSG00000105483:ENST00000391898:exon3:c.T246C:p.L82L,ENSG00000105483:ENST00000447740:exon3:c.T96C:p.L32L,ENSG00000105483:ENST00000518622:exon3:c.T96C:p.L32L,ENSG00000105483:ENST00000518979:exon3:c.T96C:p.L32L,ENSG00000105483:ENST00000519302:exon3:c.T96C:p.L32L,ENSG00000105483:ENST00000521415:exon3:c.T246C:p.L82L,ENSG00000105483:ENST00000517510:exon4:c.T96C:p.L32L,ENSG00000105483:ENST00000519646:exon4:c.T246C:p.L82L,ENSG00000105483:ENST00000520015:exon4:c.T246C:p.L82L,ENSG00000105483:ENST00000520153:exon4:c.T96C:p.L32L,ENSG00000105483:ENST00000521613:exon4:c.T96C:p.L32L,ENSG00000105483:ENST00000522773:exon5:c.T246C:p.L82L,ENSG00000105483:ENST00000519940:exon6:c.T246C:p.L82L,ENSG00000105483:ENST00000520753:exon6:c.T246C:p.L82L,ENSG00000105483:ENST00000522889:exon6:c.T96C:p.L32L NA NA 19q13.33 NA NA NA NA rs2288876 0.24 0.24 0.213 0.269369 0.2932 0.1944 0.3674 0.1959 0.3517 0.29 0.18 0.33 0.18 0.3178 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517159 NA NA 0.327791 0.216296 NA 0.167 NA 4.7278756 1179 3 148879883 148879883 A G intronic HPS3 NA NA NA intronic ENSG00000163755 NA NA NA NA NA 3q24 NA Name=GR NA NA rs57943258 0.16 0.16 0.172 0.165335 0.1392 0.0893 0.1081 0.3306 0.0879 0.13 0.1 0.12 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673588 NA NA 0.133099 0.274543 NA 0.159 NA 4.727701 1179 3 132106634 132106634 G A intergenic ACPP,DNAJC13 dist=19488;dist=29919 NA NA ncRNA_exonic ENSG00000240890 NA NA NA Score=569;Name=lod=273 NA 3q22.1 NA NA NA NA rs10935006 0.25 0.25 0.23 0.240415 0.2724 0.2867 0.2867 0.1263 0.2812 0.28 0.27 0.26 0.16 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.441111 2.441111 NA NA NA NA 0.355 NA 4.7276 1179 15 79080798 79080798 C T intronic ADAMTS7 NA NA NA intronic ENSG00000136378 NA NA NA NA NA 15q25.1 NA Name=CTCF NA NA rs3743058 0.3 0.3 0.286 0.329872 0.2724 0.3343 0.3329 0.3177 0.3988 0.27 0.32 0.34 0.28 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166945 NA NA NA NA NA 0.275 NA 4.7276 1179 4 140809710 140809710 C G intronic MAML3 NA NA NA intronic ENSG00000196782 NA NA NA NA NA 4q31.1 NA Name=p300 Name=40 NA rs3775241 0.32 0.32 0.313 0.300519 0.4433 0.127 0.3156 0.3366 0.273 0.46 0.14 0.35 0.31 0.3856 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023863 NA NA 0.443747 0.32363 NA 0.275 NA 4.727353 1179 16 1894912 1894912 C T exonic MEIOB NA synonymous SNV MEIOB:NM_001163560:exon10:c.G831A:p.T277T,MEIOB:NM_152764:exon10:c.G831A:p.T277T exonic ENSG00000162039 NA synonymous SNV ENSG00000162039:ENST00000325962:exon9:c.G831A:p.T277T,ENSG00000162039:ENST00000470044:exon9:c.G210A:p.T70T,ENSG00000162039:ENST00000397344:exon10:c.G831A:p.T277T,ENSG00000162039:ENST00000412554:exon10:c.G831A:p.T277T,ENSG00000162039:ENST00000452149:exon10:c.G831A:p.T277T NA NA 16p13.3 NA NA NA NA rs9806826 0.35 0.35 0.362 0.370208 0.3141 0.4246 0.3242 0.3548 0.4254 0.31 0.44 0.29 0.36 0.3382 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.068542 NA NA 0.287065 0.334321 NA 0.377 NA 4.7273016 1179 6 31192509 31192509 C T intergenic HCG27,HLA-C dist=20764;dist=44017 NA NA ncRNA_exonic ENSG00000255899 NA NA NA Score=643;Name=lod=549 NA 6p21.33 NA NA NA NA rs9263991 0.23 0.23 0.202 0.258986 0.2734 0.1577 0.2853 0.3154 0.2536 0.26 0.12 0.29 0.27 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.73268 NA NA NA NA NA 0.152 NA 4.7266 1179 7 45144403 45144403 C T intronic TBRG4 NA NA NA intronic ENSG00000136270 NA NA NA Score=455;Name=lod=94 NA 7p13 NA NA NA NA rs2289375 0.34 0.34 0.388 0.391174 0.2734 0.1905 0.2637 0.6619 0.4438 0.27 0.17 0.3 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.044351 4.044351 NA NA NA NA 0.435 NA 4.7266 1179 17 79225851 79225851 G A intronic SLC38A10 NA NA NA intronic ENSG00000157637 NA NA NA NA NA 17q25.3 NA NA Name=11 NA rs9915417 0.23 0.23 0.217 0.215455 0.2734 0.004 0.2435 0.4274 0.0675 0.27 0.0035 0.25 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.74313 3.74313 NA NA NA NA 0.254 NA 4.7266 1179 9 79827964 79827964 G C intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs17723908 0.08 0.08 0.073 0.0704872 0.0954 0.1071 0.0576 0.0356 0.0634 0.1 0.11 0.05 0.05 0.0871 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851171 NA NA 0.091047 0.057649 NA 0.051 NA 4.726453 1179 6 132149254 132149254 C A intronic ENPP1 NA NA NA ncRNA_exonic ENSG00000237115 NA NA NA Score=658;Name=lod=628 NA 6q23.2 NA NA NA NA rs2021315 0.71 0.71 0.735 0.748203 0.6074 0.8105 0.6628 0.8744 0.7188 0.58 0.8 0.68 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.57235 NA NA NA NA NA 0.71 NA 4.7259333 1179 11 48328644 48328644 C T exonic OR4S1 NA synonymous SNV OR4S1:NM_001004725:exon1:c.C870T:p.N290N exonic ENSG00000176555 NA synonymous SNV ENSG00000176555:ENST00000319988:exon1:c.C870T:p.N290N NA NA 11p11.2 NA NA NA NA rs753095 0.37 0.37 0.408 0.43131 0.3042 0.4544 0.2911 0.5113 0.5297 0.29 0.4 0.3 0.51 0.338 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.875995 NA NA 0.298627 0.48796 NA 0.471 NA 4.7258396 1179 11 7805415 7805415 C T intergenic OVCH2,OR5P2 dist=77474;dist=12106 NA NA ncRNA_exonic ENSG00000241008 NA NA NA Score=784;Name=lod=2047 NA 11p15.4 NA NA NA NA rs7933360 0.25 0.25 0.241 0.20607 0.2744 0.1151 0.2795 0.2579 0.1074 0.29 0.13 0.27 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473344 NA NA NA NA NA 0.239 NA 4.7256 1179 7 150557622 150557622 G A exonic ABP1 NA synonymous SNV ABP1:NM_001091:exon4:c.G1890A:p.S630S,ABP1:NM_001272072:exon4:c.G1947A:p.S649S exonic ENSG00000002726 NA synonymous SNV ENSG00000002726:ENST00000360937:exon4:c.G1890A:p.S630S,ENSG00000002726:ENST00000416793:exon4:c.G1947A:p.S649S,ENSG00000002726:ENST00000467291:exon6:c.G1890A:p.S630S,ENSG00000002726:ENST00000493429:exon6:c.G1890A:p.S630S NA NA 7q36.1 NA NA NA NA rs12179 0.42 0.42 0.427 0.453275 0.2694 0.4802 0.3977 0.5446 0.5307 0.29 0.51 0.41 0.54 0.37 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085267 NA NA 0.301818 0.474017 ID=COSM150422;OCCURENCE=1(stomach) 0.486 NA 4.7254486 1179 12 107395106 107395106 A G exonic CRY1 NA synonymous SNV CRY1:NM_004075:exon5:c.T636C:p.G212G exonic ENSG00000008405 NA synonymous SNV ENSG00000008405:ENST00000008527:exon5:c.T636C:p.G212G NA NA 12q23.3 Score=813;Name=V$ISRE_01 NA NA NA rs8192440 0.79 0.79 0.799 0.789736 0.6282 0.9554 0.7579 0.857 0.7168 0.63 0.96 0.75 0.85 0.689 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269098 1.269098 NA 0.62407 0.821153 NA 0.768 NA 4.7253966 1179 4 99993869 99993869 G T intronic ADH5 NA NA NA intronic ENSG00000197894 NA NA NA Score=623;Name=lod=452 NA 4q23 NA NA NA NA rs17595424 0.06 0.06 0.072 0.0545128 0.0974 NA 0.072 0.0703 0.0327 0.09 NA 0.08 0.08 0.075 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.387026 1.387026 NA 0.102345 0.081882 NA 0.051 NA 4.725255 1180 1 228547901 228547901 C T exonic OBSCN NA synonymous SNV OBSCN:NM_052843:exon81:c.C19308T:p.D6436D exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon81:c.C19308T:p.D6436D,ENSG00000154358:ENST00000366709:exon81:c.C10665T:p.D3555D NA NA 1q42.13 NA NA NA NA rs12035900 0.27 0.27 0.279 0.298722 0.328 0.2669 0.3112 0.1142 0.5419 0.33 0.27 0.32 0.14 0.3126 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952791 NA NA 0.301143 0.159954 ID=COSM1473563;OCCURENCE=1(breast) 0.333 NA 4.7249236 1180 12 121690587 121690587 G A intronic CAMKK2 NA NA NA intronic ENSG00000110931 NA NA NA NA NA 12q24.31 NA Name=USF2,NF-YB NA NA rs1560568 0.23 0.23 0.176 0.240815 0.1491 0.2778 0.2839 0.2799 0.2137 0.15 0.26 0.26 0.28 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101676 NA NA 0.126021 0.291185 NA 0.225 NA 4.724879 1180 1 167844553 167844553 C A intronic ADCY10 NA NA NA intronic ENSG00000143199 NA NA NA NA NA 1q24.2 NA NA Name=23 NA rs203826 0.32 0.32 0.32 0.315695 0.2753 0.1875 0.3444 0.5552 0.1452 0.27 0.2 0.31 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084193 NA NA NA NA NA 0.348 NA 4.7247 1180 2 189092694 189092694 T C intergenic TFPI,GULP1 dist=673475;dist=63702 NA NA ncRNA_exonic ENSG00000213115,ENSG00000231689 NA NA NA NA NA 2q32.1 NA Name=ELF1_(SC-631) NA NA rs61998215 0.13 0.13 0.104 0.146765 0.2753 0.0397 0.1427 0.0166 0.3037 0.26 0.04 0.17 0.03 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025493 NA NA NA NA NA 0.225 NA 4.7247 1180 10 67008048 67008048 G T intergenic ANXA2P3,CTNNA3 dist=421414;dist=671677 NA NA ncRNA_exonic ENSG00000233724 NA NA NA Score=648;Name=lod=575 NA 10q21.3 NA NA NA NA rs17204569 0.17 0.17 0.152 0.132388 0.2753 0.0813 0.2046 0.0408 0.1104 0.28 0.09 0.2 0.07 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682413 NA NA NA NA NA 0.21 NA 4.7247 1180 17 11532835 11532835 A G exonic DNAH9 NA synonymous SNV DNAH9:NM_001372:exon7:c.A1452G:p.E484E exonic ENSG00000007174 NA synonymous SNV ENSG00000007174:ENST00000262442:exon7:c.A1452G:p.E484E,ENSG00000007174:ENST00000454412:exon7:c.A1452G:p.E484E NA NA 17p12 NA NA NA NA rs9895535 0.35 0.35 0.365 0.392772 0.3161 0.131 0.2334 0.7761 0.3364 0.3 0.12 0.26 0.77 0.3236 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.07042 NA NA 0.30314 0.71153 NA 0.355 NA 4.7238266 1180 2 207101017 207101017 G T intergenic GPR1,ZDBF2 dist=18246;dist=38506 NA NA ncRNA_exonic ENSG00000159186 NA NA NA Score=432;Name=lod=76 NA 2q33.3 NA NA NA NA rs726167 0.29 0.29 0.331 0.302516 0.2763 0.2292 0.1873 0.4047 0.3487 0.28 0.23 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054492 NA NA NA NA NA 0.203 NA 4.7237 1180 4 137276414 137276414 G A intergenic NONE,PCDH18 dist=NONE;dist=1163660 NA NA ncRNA_exonic ENSG00000249311 NA NA NA Score=563;Name=lod=258 NA 4q28.3 NA NA NA NA rs10011523 0.28 0.28 0.269 0.303714 0.2763 0.3552 0.3689 0.267 0.2822 0.26 0.35 0.3 0.22 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178671 NA NA NA NA NA 0.304 NA 4.7237 1180 8 13600024 13600024 G A intergenic C8orf48,SGCZ dist=174227;dist=347349 NA NA ncRNA_exonic ENSG00000255413 NA NA NA Score=403;Name=lod=58 NA 8p22 NA NA NA NA rs1481898 0.27 0.27 0.253 0.247804 0.2763 0.3065 0.3098 0.1679 0.2219 0.28 0.32 0.27 0.18 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378096 NA NA NA NA NA 0.333 NA 4.7237 1180 9 103494116 103494116 T C intergenic MURC,LPPR1 dist=143943;dist=296915 NA NA ncRNA_exonic ENSG00000237999 NA NA NA Score=855;Name=lod=3978 NA 9q31.1 NA NA NA NA rs4742792 0.39 0.39 0.349 0.372404 0.2763 0.4742 0.5014 0.4002 0.2372 0.28 0.47 0.44 0.41 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055787 NA NA NA NA NA 0.304 NA 4.7237 1180 9 139686556 139686556 G A intronic TMEM141 NA NA NA intronic ENSG00000244187 NA NA NA NA NA 9q34.3 NA Name=CTCF NA NA rs2784041 0.3 0.3 0.289 0.334465 0.2763 0.1498 0.2853 0.5023 0.3926 0.29 0.13 0.28 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713879 NA NA NA NA NA 0.362 NA 4.7237 1180 19 22321245 22321245 A G intergenic ZNF257,ZNF676 dist=47342;dist=40658 NA NA ncRNA_exonic ENSG00000268140 NA NA NA Score=611;Name=lod=404 NA 19p12 NA NA NA NA rs3813592 0.24 0.24 0.236 0.263978 0.2763 0.3651 0.232 0.0522 0.456 0.26 0.37 0.28 0.06 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991108 NA NA NA NA NA 0.21 NA 4.7237 1180 19 22321273 22321273 C T intergenic ZNF257,ZNF676 dist=47370;dist=40630 NA NA ncRNA_exonic ENSG00000268140 NA NA NA Score=611;Name=lod=404 NA 19p12 NA NA NA NA rs3813590 0.25 0.25 0.238 0.263778 0.2763 0.3641 0.232 0.0522 0.456 0.26 0.37 0.28 0.06 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.665258 NA NA NA NA NA 0.203 NA 4.7237 1180 19 3730041 3730041 C T exonic TJP3 NA synonymous SNV TJP3:NM_001267560:exon4:c.C174T:p.I58I,TJP3:NM_001267561:exon4:c.C201T:p.I67I exonic ENSG00000105289 NA synonymous SNV ENSG00000105289:ENST00000262968:exon3:c.C231T:p.I77I,ENSG00000105289:ENST00000539908:exon3:c.C66T:p.I22I,ENSG00000105289:ENST00000587686:exon3:c.C231T:p.I77I,ENSG00000105289:ENST00000382008:exon4:c.C174T:p.I58I,ENSG00000105289:ENST00000541714:exon4:c.C174T:p.I58I,ENSG00000105289:ENST00000589378:exon4:c.C201T:p.I67I,ENSG00000105289:ENST00000590545:exon4:c.C204T:p.I68I NA NA 19p13.3 Score=820;Name=V$PAX3_01 NA NA NA rs7258176 0.7 0.7 0.698 0.70647 0.6421 0.6429 0.7997 0.7579 0.7025 0.63 0.69 0.77 0.75 0.6675 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.010935 NA NA 0.633721 0.750113 NA 0.775 NA 4.7233456 1180 19 17003789 17003789 T G UTR3 CPAMD8 NM_015692:c.*130A>C NA NA UTR3 ENSG00000160111 ENST00000443236:c.*130A>C,ENST00000594249:c.*1438A>C NA NA NA NA 19p13.11 NA Name=TCF12,BATF,EBF1_(C-8) Name=8 NA rs773901 0.53 0.53 0.536 0.564097 0.5398 0.3026 0.5893 0.7973 0.5256 0.51 0.29 0.6 0.78 0.5377 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633492 NA NA 0.532647 0.756849 NA 0.536 NA 4.7231864 1180 11 32460575 32460575 T C ncRNA_exonic WT1-AS NA NA NA ncRNA_exonic ENSG00000183242 NA NA NA NA NA 11p13 NA NA Name=12 NA rs11031784 0.45 0.45 0.429 0.489217 0.2714 0.7431 0.4121 0.4183 0.6022 0.27 0.75 0.39 0.41 0.3804 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410628 NA NA 0.291928 0.409855 NA 0.478 NA 4.7229386 1180 3 31495219 31495219 C A intergenic GADL1,STT3B dist=559066;dist=79272 NA NA ncRNA_exonic ENSG00000227339 NA NA NA Score=462;Name=lod=101 NA 3p23 NA NA NA NA rs11708946 0.28 0.28 0.278 0.235823 0.2773 0.372 0.2464 0.1452 0.1677 0.26 0.42 0.28 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027432 NA NA NA NA NA 0.174 NA 4.7227 1180 5 68396580 68396580 G A intronic SLC30A5 NA NA NA intronic ENSG00000145740 NA NA NA NA NA 5q13.1 NA NA Name=2 NA rs12522805 0.26 0.26 0.269 0.273962 0.2773 0.1637 0.245 0.3517 0.2996 0.28 0.17 0.24 0.33 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388545 NA NA NA NA NA 0.304 NA 4.7227 1180 6 33145369 33145369 C A intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA NA NA 6p21.32 NA Name=YY1 NA NA rs2076311 0.29 0.29 0.332 0.322284 0.2773 0.2431 0.2738 0.3865 0.3978 0.27 0.26 0.22 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.233969 NA NA NA NA NA 0.254 NA 4.7227 1180 13 31821256 31821256 C G intronic B3GALTL NA NA NA intronic ENSG00000187676 NA NA NA NA NA 13q12.3 NA NA Name=5 NA rs9542307 0.28 0.28 0.261 0.247604 0.4493 0.0675 0.3141 0.2337 0.1973 0.44 0.05 0.36 0.23 0.3617 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589622 NA NA 0.466628 0.283704 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082786.1;CLNDSDB=.;CLNDSDBID=. 4.722372 1180 1 214786635 214786635 A C intronic CENPF NA NA NA ncRNA_exonic ENSG00000224584 NA NA NA Score=726;Name=lod=1187 NA 1q41 NA NA NA NA rs2807663 0.54 0.54 0.539 0.53155 0.6113 0.2798 0.5259 0.6952 0.4918 0.6 0.28 0.59 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346349 NA NA NA NA NA 0.645 NA 4.7220333 1180 3 1269680 1269680 G A intronic CNTN6 NA NA NA intronic ENSG00000134115 NA NA NA Score=492;Name=lod=133 NA 3p26.3 NA NA NA NA rs62229416 0.05 0.05 0.039 0.047524 0.0944 0.0188 0.0476 0.0098 0.0798 0.1 0.02 0.06 0.01 0.0785 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.58742 1.58742 NA 0.105116 0.031094 NA 0.08 NA 4.721984 1180 2 101898412 101898412 G C exonic RNF149 NA nonsynonymous SNV RNF149:NM_173647:exon6:c.C1068G:p.D356E exonic ENSG00000163162 NA nonsynonymous SNV ENSG00000163162:ENST00000295317:exon6:c.C1068G:p.D356E,ENSG00000163162:ENST00000424632:exon6:c.C1068G:p.D356E NA NA 2q11.2 NA NA NA NA rs13151 0.86 0.86 0.831 0.846046 0.8738 1 0.9135 0.6278 0.9059 0.87 1 0.9 0.64 0.871 1 0.63 T 0.0 B 0.0 B 0.384 N 1.000 P 0 N 3.16 T -1.053 T 0.000 T 0.017 -0.613 1.272 -1.9 -0.942 -0.698 3.189 -0.612906 NA 1 0.866744 0.688379 NA 0.79 NA 4.7217894 1180 1 153197719 153197719 G A intergenic PRR9,LOR dist=5926;dist=34460 NA NA ncRNA_exonic ENSG00000230779 NA NA NA Score=805;Name=lod=2494 NA 1q21.3 NA NA NA NA rs943133 0.15 0.15 0.127 0.133786 0.2783 0.0685 0.1556 0.0454 0.1564 0.28 0.05 0.17 0.05 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167233 NA NA NA NA NA 0.283 NA 4.7217 1180 15 22782355 22782355 G A intergenic GOLGA6L1,TUBGCP5 dist=36353;dist=51040 NA NA ncRNA_intronic ENSG00000259400 NA NA NA Score=325;Name=lod=28 NA 15q11.2 NA NA NA NA rs4073409 0.39 0.39 0.397 0.394169 0.2783 0.4831 0.2406 0.5386 0.3354 0.27 0.5 0.24 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473925 NA NA NA NA NA 0.333 NA 4.7217 1180 17 48313291 48313291 T C intergenic COL1A1,TMEM92 dist=34291;dist=35476 NA NA ncRNA_exonic ENSG00000249838 NA NA NA Score=676;Name=lod=745 NA 17q21.33 NA NA NA NA rs4794120 0.31 0.31 0.3 0.332867 0.2783 0.3929 0.3213 0.3064 0.3712 0.26 0.39 0.32 0.3 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078791 NA NA NA NA NA 0.384 NA 4.7217 1180 1 152487979 152487979 C T exonic CRCT1 NA synonymous SNV CRCT1:NM_019060:exon2:c.C120T:p.C40C exonic ENSG00000169509 NA synonymous SNV ENSG00000169509:ENST00000368790:exon2:c.C120T:p.C40C NA NA 1q21.3 NA NA Name=20 NA rs2282296 0.52 0.52 0.498 0.479633 0.6213 0.6081 0.5245 0.1611 0.6002 0.63 0.64 0.57 0.16 0.642 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195382 NA NA 0.68225 0.328075 NA 0.435 NA 4.7211166 1180 14 94942391 94942391 G A intronic SERPINA9 NA NA NA intronic ENSG00000170054 NA NA NA NA NA 14q32.13 NA Name=Pol2 NA NA rs10146263 0.17 0.17 0.193 0.132188 0.16 0.1895 0.1095 0.1142 0.0849 0.16 0.23 0.09 0.16 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096561 NA NA 0.119107 0.133671 NA 0.101 NA 4.720893 1180 1 153198205 153198205 A G intergenic PRR9,LOR dist=6412;dist=33974 NA NA ncRNA_exonic ENSG00000230779 NA NA NA Score=805;Name=lod=2494 NA 1q21.3 NA NA NA NA rs1831237 0.15 0.15 0.127 0.134185 0.2793 0.0685 0.1556 0.0454 0.1575 0.28 0.05 0.17 0.05 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003681 NA NA NA NA NA 0.283 NA 4.7207 1180 1 153198457 153198457 A C intergenic PRR9,LOR dist=6664;dist=33722 NA NA ncRNA_exonic ENSG00000230779 NA NA NA Score=805;Name=lod=2494 NA 1q21.3 NA NA NA NA rs1410862 0.15 0.15 0.13 0.135583 0.2793 0.0685 0.1571 0.0507 0.1564 0.28 0.05 0.17 0.06 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017122 NA NA NA NA NA 0.283 NA 4.7207 1180 1 242223399 242223399 A G intergenic MAP1LC3C,PLD5 dist=61014;dist=28290 NA NA ncRNA_exonic ENSG00000224625 NA NA NA Score=841;Name=lod=3496 NA 1q43 NA NA NA NA rs871765 0.27 0.27 0.255 0.245807 0.2793 0.2599 0.2522 0.2307 0.2127 0.29 0.26 0.28 0.25 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031067 NA NA NA NA NA 0.196 NA 4.7207 1180 7 112125099 112125099 G A intronic LSMEM1 NA NA NA intronic ENSG00000181016 NA NA NA NA NA 7q31.1 NA Name=Egr-1,STAT3,GR,CEBPB NA NA rs3095028 0.18 0.18 0.146 0.165535 0.2793 0.0298 0.1686 0.2103 0.1258 0.27 0.03 0.2 0.21 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92672 NA NA NA NA NA 0.203 NA 4.7207 1180 19 45857820 45857820 G A intronic ERCC2 NA NA NA intronic ENSG00000104884 NA NA NA NA NA 19q13.32 NA Name=GATA-1 NA NA rs238414 0.43 0.43 0.464 0.420327 0.2793 0.4077 0.3357 0.7292 0.2209 0.29 0.41 0.36 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624371 NA NA NA NA NA 0.486 NA 4.7207 1180 1 186057181 186057181 T C ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA Score=683;Name=lod=793 NA 1q31.1 Score=850;Name=V$OCT1_02 NA NA NA rs10911816 0.67 0.67 0.688 0.686502 0.5139 0.5942 0.6686 0.969 0.59 0.53 0.62 0.67 0.96 0.5898 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.598541 2.598541 NA 0.50907 0.892873 NA 0.725 NA 4.7205633 1180 8 22571018 22571018 A G exonic PEBP4 NA synonymous SNV PEBP4:NM_144962:exon7:c.T549C:p.R183R exonic ENSG00000134020 NA synonymous SNV ENSG00000134020:ENST00000256404:exon7:c.T549C:p.R183R NA NA 8p21.3 NA NA NA NA rs1047398 0.32 0.32 0.276 0.286941 0.3231 0.2996 0.4582 0.2436 0.1738 0.32 0.29 0.43 0.26 0.3089 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376309 NA NA 0.314334 0.262677 NA 0.268 NA 4.7203326 1180 1 202861566 202861566 A G UTR3 KLHL12 NM_021633:c.*95T>C NA NA UTR3 ENSG00000117153 ENST00000367261:c.*95T>C,ENST00000367259:c.*199T>C,ENST00000435533:c.*95T>C NA NA Score=355;Name=lod=37 NA 1q32.1 NA NA NA NA rs1042990 0.47 0.47 0.452 0.45008 0.6133 0.3155 0.5259 0.4266 0.3988 0.63 0.3 0.51 0.41 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.077242 NA NA NA NA NA 0.399 NA 4.7200334 1180 7 100815279 100815279 G A UTR3 NAT16 NM_198571:c.*81C>T NA NA UTR3 ENSG00000167011 ENST00000300303:c.*81C>T,ENST00000455377:c.*81C>T NA NA NA NA 7q22.1 NA Name=CtBP2 NA NA rs740103 0.5 0.5 0.437 0.471645 0.6133 0.4712 0.6556 0.2405 0.5082 0.63 0.51 0.62 0.22 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303938 NA NA NA NA NA 0.435 NA 4.7200334 1180 3 155894394 155894394 A G intronic KCNAB1 NA NA NA ncRNA_exonic ENSG00000227709 NA NA NA Score=796;Name=lod=2291 NA 3q25.31 NA NA NA NA rs7625723 0.7 0.7 0.664 0.648363 0.6133 0.9107 0.7651 0.5325 0.4877 0.61 0.94 0.72 0.53 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546868 NA NA NA NA NA 0.681 NA 4.7200333 1180 1 20945055 20945055 C T exonic CDA NA synonymous SNV CDA:NM_001785:exon4:c.C435T:p.T145T exonic ENSG00000158825 NA synonymous SNV ENSG00000158825:ENST00000375071:exon4:c.C435T:p.T145T NA NA 1p36.12 NA NA NA NA rs1048977 0.31 0.31 0.325 0.311102 0.3231 0.244 0.317 0.379 0.272 0.33 0.25 0.31 0.37 0.3088 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072616 NA NA 0.314884 0.395824 ID=COSM146436;OCCURENCE=1(stomach) 0.312 NA 4.7198826 1180 7 6974888 6974888 T C intergenic CCZ1B,LOC100131257 dist=108962;dist=140513 NA NA ncRNA_exonic ENSG00000242731 NA NA NA NA NA 7p22.1 NA Name=ERalpha_a NA NA rs4433045 0.4 0.4 0.285 0.40635 0.2803 0.7431 0.2983 0.3389 0.3569 0.27 0.7 0.3 0.33 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363682 NA NA NA NA NA NA NA 4.7197 1180 9 121526407 121526407 A G intergenic TLR4,DBC1 dist=1046638;dist=402501 NA NA ncRNA_exonic ENSG00000231166 NA NA NA Score=760;Name=lod=1635 NA 9q33.1 NA NA NA NA rs1472883 0.33 0.33 0.306 0.34345 0.2803 0.2341 0.3213 0.4773 0.3558 0.28 0.26 0.33 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506314 NA NA NA NA NA 0.355 NA 4.7197 1180 2 20491212 20491212 G A intronic PUM2 NA NA NA intronic ENSG00000055917 NA NA NA NA NA 2p24.1 NA Name=ZNF263 NA NA rs11096655 0.41 0.41 0.378 0.411542 0.2803 0.7391 0.4597 0.23 0.4202 0.29 0.74 0.39 0.22 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68014 NA NA NA NA NA 0.275 NA 4.7197 1180 3 170213413 170213413 G A intronic SLC7A14 NA NA NA intronic ENSG00000013293,ENSG00000013297 NA NA NA Score=722;Name=lod=1141 NA 3q26.2 NA NA NA NA rs11718678 0.35 0.35 0.328 0.375998 0.2803 0.1806 0.3386 0.7118 0.2485 0.27 0.17 0.34 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577028 NA NA NA NA NA 0.37 NA 4.7197 1180 14 96776008 96776008 A G intronic ATG2B NA NA NA intronic ENSG00000066739 NA NA NA NA NA 14q32.2 NA Name=USF-1 NA NA rs2289628 0.23 0.23 0.202 0.235423 0.2803 0.2351 0.2363 0.1732 0.273 0.28 0.22 0.25 0.16 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530091 NA NA NA NA NA 0.188 NA 4.7197 1180 21 35230921 35230921 G C intronic ITSN1 NA NA NA intronic ENSG00000205726,ENSG00000249209 NA NA NA NA NA 21q22.11 NA NA Name=3 NA rs2073366 0.27 0.27 0.232 0.253195 0.2803 0.4782 0.2536 0.0234 0.3037 0.28 0.46 0.27 0.03 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956896 NA NA NA NA NA 0.268 NA 4.7197 1180 22 42397026 42397026 A G intronic WBP2NL NA NA NA intronic ENSG00000183066 NA NA NA Score=399;Name=lod=56 NA 22q13.2 NA NA NA NA rs9623489 0.25 0.25 0.253 0.261182 0.2803 0.0565 0.3876 0.348 0.2454 0.28 0.05 0.42 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750933 NA NA NA NA NA 0.457 NA 4.7197 1180 1 145588536 145588536 C T intronic NBPF10,NUDT17 NA NA NA intronic ENSG00000186364 NA NA NA NA NA 1q21.1 NA Name=USF-1,CTCF,Pol2,USF2 Name=97 NA rs9286836 0.69 0.69 0.687 0.698682 0.6362 0.8353 0.6441 0.6059 0.7863 0.63 0.86 0.63 0.61 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162389 NA NA 0.644563 0.59104 NA 0.623 NA 4.719237 1180 16 21082163 21082163 C T intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA Name=USF2 NA NA rs75686265 0.09 0.09 0.08 0.0966454 0.0875 0.0813 0.085 0.0877 0.1421 0.1 0.06 0.09 0.09 0.1065 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057782 NA NA 0.087209 0.078601 NA 0.08 NA 4.718791 1180 3 31494587 31494587 G A intergenic GADL1,STT3B dist=558434;dist=79904 NA NA ncRNA_exonic ENSG00000227339 NA NA NA NA NA 3p23 NA Name=CTCF NA NA rs17027714 0.36 0.36 0.348 0.326078 0.2813 0.623 0.3357 0.1884 0.2454 0.27 0.65 0.36 0.18 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546809 NA NA NA NA NA 0.225 NA 4.7187 1180 4 158238830 158238830 T C exonic GRIA2 NA synonymous SNV GRIA2:NM_000826:exon5:c.T687C:p.H229H,GRIA2:NM_001083619:exon5:c.T687C:p.H229H,GRIA2:NM_001083620:exon5:c.T546C:p.H182H exonic ENSG00000120251 NA synonymous SNV ENSG00000120251:ENST00000449365:exon4:c.T546C:p.H182H,ENSG00000120251:ENST00000264426:exon5:c.T687C:p.H229H,ENSG00000120251:ENST00000296526:exon5:c.T687C:p.H229H,ENSG00000120251:ENST00000323661:exon5:c.T546C:p.H182H,ENSG00000120251:ENST00000393815:exon5:c.T546C:p.H182H,ENSG00000120251:ENST00000503437:exon5:c.T306C:p.H102H,ENSG00000120251:ENST00000507898:exon5:c.T546C:p.H182H Score=597;Name=lod=356 NA 4q32.1 NA NA NA NA rs4302506 0.67 0.67 0.606 0.660144 0.6252 0.7897 0.755 0.4841 0.7331 0.64 0.81 0.74 0.49 0.6761 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912755 NA NA 0.646805 0.51299 ID=COSM1131203,COSM1131202;OCCURENCE=1(prostate) 0.616 NA 4.7185616 1180 16 81726863 81726863 C G intronic CMIP NA NA NA intronic ENSG00000153815 NA NA NA NA NA 16q23.3 NA Name=Pol2,Max Name=48 NA rs2288011 0.38 0.38 0.384 0.356829 0.4125 0.247 0.317 0.5242 0.2147 0.4 0.26 0.35 0.5 0.4362 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019276 NA NA 0.432747 0.494942 NA 0.391 NA 4.718553 1180 1 179520254 179520254 C G UTR3 NPHS2 NM_014625:c.*54G>C NA NA UTR3 ENSG00000116218 ENST00000367616:c.*54G>C,ENST00000367615:c.*54G>C NA NA NA NA 1q25.2 NA Name=JunD NA NA rs1410591 0.57 0.57 0.55 0.587859 0.6153 0.4911 0.6354 0.5946 0.6166 0.6 0.52 0.68 0.52 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313254 NA NA NA NA NA 0.63 NA 4.7180334 1180 1 202881302 202881302 C T intronic KLHL12 NA NA NA ncRNA_exonic ENSG00000230280 NA NA NA Score=596;Name=lod=354 NA 1q32.1 NA NA NA NA rs6692075 0.48 0.48 0.435 0.447883 0.6153 0.3155 0.5259 0.4153 0.4008 0.63 0.32 0.52 0.4 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719765 NA NA NA NA NA 0.42 NA 4.7180333 1180 1 96884286 96884286 T A intergenic FLJ31662,PTBP2 dist=939374;dist=302889 NA NA ncRNA_exonic ENSG00000234422 NA NA NA Score=613;Name=lod=414 NA 1p21.3 NA NA NA NA rs2011694 0.23 0.23 0.177 0.223842 0.2823 0.3571 0.4121 0.0159 0.1738 0.22 0.36 0.34 0.03 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.071025 NA NA NA NA NA NA NA 4.7177 1180 1 96884287 96884287 G A intergenic FLJ31662,PTBP2 dist=939375;dist=302888 NA NA ncRNA_exonic ENSG00000234422 NA NA NA Score=613;Name=lod=414 NA 1p21.3 NA NA NA NA rs2011693 0.23 0.23 0.18 0.223842 0.2823 0.3571 0.4121 0.0159 0.1738 0.22 0.36 0.34 0.03 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91639 NA NA NA NA NA NA NA 4.7177 1180 19 34080511 34080511 G C intergenic PEPD,CHST8 dist=67712;dist=32350 NA NA ncRNA_exonic ENSG00000232429 NA NA NA Score=753;Name=lod=1535 NA 19q13.11 NA NA NA NA rs12609032 0.17 0.17 0.115 0.173722 0.2823 0.1141 0.1945 0.0386 0.2914 0.27 0.11 0.23 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.27518 1.27518 NA NA NA NA 0.159 NA 4.7177 1180 7 150439500 150439500 C T exonic GIMAP1-GIMAP5,GIMAP5 NA synonymous SNV GIMAP5:NM_018384:exon3:c.C273T:p.A91A,GIMAP1-GIMAP5:NM_001199577:exon6:c.C885T:p.A295A exonic ENSG00000196329 NA synonymous SNV ENSG00000196329:ENST00000358647:exon3:c.C273T:p.A91A NA NA 7q36.1 NA NA NA NA rs759011 0.36 0.36 0.369 0.389976 0.3082 0.3006 0.2651 0.5696 0.4121 0.31 0.3 0.3 0.56 0.3343 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.177948 NA NA 0.307209 0.545847 ID=COSM452610;OCCURENCE=1(breast) 0.464 NA 4.7169576 1180 16 2105400 2105400 C T intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs1800720 0.09 0.09 0.077 0.0920527 0.0994 NA 0.0937 0.208 0.0215 0.1 NA 0.09 0.19 0.0871 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321883 NA NA 0.096628 0.190628 NA 0.174 CLINSIG=untested|untested|untested|untested|probable-non-pathogenic;CLNDBN=Tuberous_sclerosis_syndrome|Neoplasm_of_brain|Lymphangiomyomatosis|Tuberous_sclerosis_syndrome|not_specified;CLNREVSTAT=not|not|not|not|single;CLNACC=RCV000043224.2|RCV000055133.1|RCV000055419.1|RCV000055419.1|RCV000118710.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK1220:C0041341:191100:7199000|C0006118:126952004|C0751674:606690:ORPHA538:73017001|NBK1220:C0041341:191100:7199000|. 4.716872 1180 6 85998172 85998172 G A intergenic TBX18,NT5E dist=524218;dist=161130 NA NA ncRNA_exonic ENSG00000213211 NA NA NA Score=656;Name=lod=617 NA 6q14.3 NA NA NA NA rs313228 0.37 0.37 0.336 0.387979 0.2833 0.5823 0.428 0.1838 0.5429 0.29 0.63 0.42 0.15 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.301393 NA NA NA NA NA 0.246 NA 4.7167 1180 12 110006512 110006512 A G intronic MMAB NA NA NA intronic ENSG00000139428 NA NA NA NA NA 12q24.11 NA NA Name=2 NA rs11836136 0.3 0.3 0.298 0.294928 0.2833 0.1577 0.2954 0.4796 0.1984 0.29 0.15 0.31 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231843 NA NA NA NA NA 0.312 NA 4.7167 1180 13 29173349 29173349 G A intergenic FLT1,POMP dist=104084;dist=59792 NA NA ncRNA_exonic ENSG00000235472 NA NA NA Score=798;Name=lod=2344 NA 13q12.3 NA NA NA NA rs7317291 0.31 0.31 0.349 0.316294 0.2833 0.3006 0.17 0.4652 0.2689 0.28 0.3 0.17 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139687 NA NA NA NA NA 0.413 NA 4.7167 1180 16 28251277 28251277 C T intergenic XPO6,SBK1 dist=28038;dist=52563 NA NA ncRNA_exonic ENSG00000250982 NA NA NA Score=780;Name=lod=1965 NA 16p11.2 NA NA NA NA rs8057071 0.32 0.32 0.286 0.342252 0.2833 0.2778 0.428 0.4402 0.2761 0.29 0.25 0.4 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798295 NA NA NA NA NA 0.29 NA 4.7167 1180 6 150385730 150385730 T G downstream ULBP3 NA NA NA intronic ENSG00000131019 NA NA NA NA NA 6q25.1 NA NA NA NA rs912558 0.36 0.36 0.341 0.367212 0.3628 0.4107 0.3746 0.2882 0.4284 0.36 0.37 0.42 0.3 0.3765 0.42 0.02 D . . . . . . 1.000 P . . . . -1.019 T 0.046 T . 0.059 4.321 -1.31 -0.258 -0.528 3.463 0.05895 NA 0.02 0.377442 0.288016 NA 0.391 NA 4.7165913 1180 21 46086827 46086827 C A UTR5 KRTAP12-2 NM_181684:c.-24G>T NA NA UTR5 ENSG00000221864 ENST00000360770:c.-24G>T NA NA NA NA 21q22.3 NA Name=c-Myc,HA-E2F1 NA NA rs55914221 0.16 0.16 0.143 0.157348 0.2078 0.0923 0.1686 0.1346 0.1953 0.21 0.1 0.17 0.12 0.2073 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708336 NA NA 0.201771 0.13435 NA 0.08 NA 4.7164624 1180 7 143016928 143016928 C T exonic CLCN1 NA synonymous SNV CLCN1:NM_000083:exon2:c.C261T:p.T87T exonic ENSG00000188037 NA synonymous SNV ENSG00000188037:ENST00000343257:exon2:c.C261T:p.T87T NA NA 7q34 NA NA NA NA rs6962852 0.29 0.29 0.319 0.322883 0.328 0.0427 0.2378 0.5961 0.2975 0.34 0.04 0.25 0.56 0.2966 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.214803 NA NA 0.325814 0.568316 NA 0.355 NA 4.7162526 1180 7 22165180 22165180 G A intronic RAPGEF5 NA NA NA intronic ENSG00000136237 NA NA NA NA NA 7p15.3 NA NA Name=4 NA rs2302000 0.13 0.13 0.111 0.148762 0.0875 0.3204 0.0562 0.0333 0.2566 0.08 0.3 0.07 0.03 0.1117 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079791 NA NA 0.084584 0.041925 NA 0.058 NA 4.716216 1180 7 150555915 150555915 A G exonic ABP1 NA synonymous SNV ABP1:NM_001091:exon3:c.A1635G:p.P545P,ABP1:NM_001272072:exon3:c.A1635G:p.P545P exonic ENSG00000002726 NA synonymous SNV ENSG00000002726:ENST00000360937:exon3:c.A1635G:p.P545P,ENSG00000002726:ENST00000416793:exon3:c.A1635G:p.P545P,ENSG00000002726:ENST00000467291:exon5:c.A1635G:p.P545P,ENSG00000002726:ENST00000493429:exon5:c.A1635G:p.P545P NA NA 7q36.1 NA NA NA NA rs10893 0.43 0.43 0.435 0.459065 0.2734 0.4792 0.3977 0.5643 0.5307 0.29 0.51 0.41 0.56 0.3752 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263535 NA NA 0.302106 0.471202 NA 0.486 NA 4.7159606 1180 1 111391513 111391513 C T intergenic KCNA3,CD53 dist=173858;dist=22308 NA NA ncRNA_exonic ENSG00000237415 NA NA NA Score=670;Name=lod=705 NA 1p13.3 NA NA NA NA rs12750061 0.21 0.21 0.184 0.208466 0.2843 0.1181 0.2968 0.1059 0.2996 0.28 0.14 0.32 0.11 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037373 NA NA NA NA NA 0.283 NA 4.7157 1180 7 6974895 6974895 T C intergenic CCZ1B,LOC100131257 dist=108969;dist=140506 NA NA ncRNA_exonic ENSG00000242731 NA NA NA NA NA 7p22.1 NA Name=ERalpha_a NA NA rs4433046 0.39 0.39 0.258 0.410144 0.2843 0.745 0.2997 0.3472 0.3579 0.26 0.67 0.3 0.32 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257492 NA NA NA NA NA NA NA 4.7157 1180 8 23156281 23156281 C T intronic LOXL2 NA NA NA intronic ENSG00000134013 NA NA NA NA NA 8p21.3 NA NA Name=40 NA rs62503960 0.16 0.16 0.145 0.126997 0.2843 0.0536 0.2161 0.028 0.1115 0.28 0.05 0.24 0.04 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.091477 NA NA NA NA NA 0.174 NA 4.7157 1180 10 30986348 30986348 G A intergenic LYZL2,ZNF438 dist=67701;dist=147217 NA NA ncRNA_exonic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA Name=2 NA rs4749588 0.24 0.24 0.22 0.240615 0.2843 0.2599 0.3329 0.0946 0.3078 0.28 0.24 0.3 0.11 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176229 NA NA NA NA NA 0.094 NA 4.7157 1180 15 84945185 84945185 C T intergenic GOLGA6L4,DNM1P41 dist=31065;dist=100621 NA NA ncRNA_exonic ENSG00000259683 NA NA NA Score=321;Name=lod=27 NA 15q25.2 NA NA NA NA rs3860265 0.18 0.18 0.158 0.148562 0.2843 0.125 0.1816 0.0121 0.1943 0.3 0.14 0.21 0.01 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00643 NA NA NA NA NA 0.116 NA 4.7157 1180 15 84945512 84945512 C T intergenic GOLGA6L4,DNM1P41 dist=31392;dist=100294 NA NA ncRNA_intronic ENSG00000259683 NA NA NA Score=469;Name=lod=107 NA 15q25.2 NA NA NA NA rs2401432 0.18 0.18 0.137 0.148762 0.2843 0.126 0.1816 0.0121 0.1943 0.3 0.14 0.21 0.01 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739905 NA NA NA NA NA 0.13 NA 4.7157 1180 15 84958318 84958318 G A intergenic GOLGA6L4,DNM1P41 dist=44198;dist=87488 NA NA ncRNA_exonic ENSG00000235370 NA NA NA Score=300;Name=lod=22 NA 15q25.2 NA NA NA NA rs12910334 0.18 0.18 0.153 0.148363 0.2843 0.123 0.1844 0.0121 0.1933 0.29 0.13 0.21 0.01 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615905 NA NA NA NA NA 0.094 NA 4.7157 1180 15 84958359 84958359 G A intergenic GOLGA6L4,DNM1P41 dist=44239;dist=87447 NA NA ncRNA_exonic ENSG00000235370 NA NA NA Score=300;Name=lod=22 NA 15q25.2 NA NA NA NA rs142959789 0.16 0.16 0.083 0.148962 0.2843 0.123 0.1888 0.0121 0.1933 0.28 0.11 0.2 0.02 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525324 NA NA NA NA NA NA NA 4.7157 1180 17 41150949 41150949 G A intronic RPL27 NA NA NA intronic ENSG00000131469 NA NA NA NA NA 17q21.31 NA Name=CHD2_(N-1250),c-Myc,Pol2-4H8 Name=71 NA rs2271539 0.53 0.53 0.508 0.480232 0.6421 0.5754 0.6527 0.1331 0.5624 0.64 0.61 0.63 0.17 0.6422 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036474 NA NA NA NA NA 0.543 NA 4.7157 1180 19 18396297 18396297 A G intergenic MIR3188,LSM4 dist=3326;dist=20743 NA NA ncRNA_exonic ENSG00000241464 NA NA NA Score=604;Name=lod=379 NA 19p13.11 NA NA NA NA rs4808124 NA NA NA 0.246006 0.2843 0.4573 0.3386 0.0545 0.182 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272597 NA NA NA NA NA NA NA 4.7157 1180 19 18396298 18396298 G A intergenic MIR3188,LSM4 dist=3327;dist=20742 NA NA ncRNA_exonic ENSG00000241464 NA NA NA Score=604;Name=lod=379 NA 19p13.11 NA NA NA NA rs4808125 0.28 0.28 NA 0.246006 0.2843 0.4573 0.3386 0.0545 0.182 0.28 0.44 0.3 0.07 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544509 NA NA NA NA NA NA NA 4.7157 1180 19 58727821 58727821 C T intergenic ZNF274,ZNF544 dist=2894;dist=12249 NA NA ncRNA_exonic ENSG00000213013 NA NA NA Score=731;Name=lod=1246 NA 19q13.43 NA NA NA NA rs12986378 0.16 0.16 0.126 0.127196 0.2843 NA 0.1787 0.0545 0.1585 0.29 NA 0.23 0.07 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.954147 NA NA NA NA NA 0.123 NA 4.7157 1180 19 4237067 4237067 A G exonic EBI3 NA synonymous SNV EBI3:NM_005755:exon5:c.A672G:p.T224T exonic ENSG00000105246 NA synonymous SNV ENSG00000105246:ENST00000221847:exon5:c.A672G:p.T224T NA NA 19p13.3 NA NA NA NA rs4905 0.42 0.42 0.421 0.460863 0.3052 0.4435 0.2767 0.6679 0.4898 0.31 0.45 0.28 0.65 0.3602 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135391 NA NA 0.285698 0.618475 NA 0.42 NA 4.7155686 1181 12 10562025 10562025 C T exonic KLRC4 NA synonymous SNV KLRC4:NM_013431:exon1:c.G150A:p.S50S exonic ENSG00000183542,ENSG00000255819 NA synonymous SNV ENSG00000183542:ENST00000309384:exon1:c.G150A:p.S50S NA NA 12p13.2 NA Name=STAT1 NA NA rs1841957 0.54 0.54 0.513 0.49401 0.663 0.5605 0.6311 0.208 0.5409 0.66 0.61 0.62 0.24 0.6107 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433948 NA NA 0.678023 0.289055 NA 0.493 NA 4.7149436 1181 18 44561516 44561516 C G exonic TCEB3B NA synonymous SNV TCEB3B:NM_016427:exon1:c.G120C:p.T40T exonic ENSG00000206181 NA synonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G120C:p.T40T NA NA 18q21.1 NA NA NA NA rs2571027 0.43 0.43 0.395 0.535144 0.4433 0.6448 0.6254 0.438 0.5838 0.37 0.56 0.5 0.32 0.5086 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645229 NA NA NA NA NA 0.442 NA 4.7147666 1181 5 176814656 176814656 G A intronic SLC34A1 NA NA NA intronic ENSG00000131183 NA NA NA NA NA 5q35.3 NA Name=USF-1 NA NA rs33921462 0.2 0.2 0.178 0.180711 0.2853 0.1875 0.2305 0.0348 0.228 0.28 0.21 0.26 0.04 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470355 NA NA NA NA NA 0.043 NA 4.7147 1181 15 84949664 84949664 A G intergenic GOLGA6L4,DNM1P41 dist=35544;dist=96142 NA NA ncRNA_exonic ENSG00000259570 NA NA NA Score=454;Name=lod=93 NA 15q25.2 NA NA NA NA rs11632988 0.18 0.18 0.11 0.148962 0.2853 0.125 0.1816 0.0129 0.1943 0.29 0.13 0.21 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191326 NA NA NA NA NA 0.014 NA 4.7147 1181 16 22262514 22262514 C A exonic EEF2K NA synonymous SNV EEF2K:NM_013302:exon6:c.C489A:p.G163G exonic ENSG00000103319 NA synonymous SNV ENSG00000103319:ENST00000263026:exon6:c.C489A:p.G163G,ENSG00000103319:ENST00000568269:exon6:c.C489A:p.G163G NA NA 16p12.2 NA NA NA NA rs2303186 0.5 0.5 0.503 0.521765 0.2803 0.8899 0.3444 0.5582 0.4673 0.27 0.86 0.36 0.54 0.3754 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382514 NA NA 0.296512 0.505007 NA 0.42 NA 4.7144546 1181 20 25848597 25848597 T A intergenic FAM182B,LOC100134868 dist=66670;dist=141838 NA NA UTR5 ENSG00000175170 ENST00000376404:c.-92651A>T NA NA NA NA 20p11.1 NA Name=ATF3,SETDB1 NA NA rs6050951 NA NA 0.313 0.229034 0.1193 0.0129 0.2305 0.4977 0.2004 NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071991 NA NA NA NA NA 0.094 NA 4.7140334 1181 7 142460313 142460313 T C exonic PRSS1 NA synonymous SNV PRSS1:NM_002769:exon4:c.T486C:p.D162D exonic ENSG00000204983 NA synonymous SNV ENSG00000204983:ENST00000492062:exon3:c.T336C:p.D112D,ENSG00000204983:ENST00000311737:exon4:c.T486C:p.D162D,ENSG00000204983:ENST00000486171:exon5:c.T528C:p.D176D NA NA 7q34 NA NA NA NA rs6666 NA NA NA 0.396565 0.5835 0.2192 0.5288 0.407 0.2791 NA NA NA NA 0.3693 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.627946 NA NA NA NA NA 0.297 NA 4.7138666 1181 3 186951472 186951472 G A intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA Score=578;Name=lod=297 NA 3q27.3 NA NA NA NA rs2002665 0.36 0.36 0.338 0.343251 0.2863 0.6617 0.353 0.1051 0.3885 0.29 0.68 0.33 0.12 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.131727 NA NA NA NA NA 0.225 NA 4.7137 1181 4 190876177 190876177 G C intronic FRG1 NA NA NA intronic ENSG00000109536 NA NA NA NA NA 4q35.2 NA NA Name=6 NA rs80264746 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA 0.2863 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353492 NA NA NA NA NA NA NA 4.7137 1181 17 80054375 80054375 C A intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA Name=Pol2 NA NA rs17848934 0.18 0.18 0.137 0.177516 0.2863 0.0734 0.1873 0.1528 0.1994 0.28 0.07 0.2 0.13 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816549 NA NA NA NA NA 0.167 NA 4.7137 1181 19 49969085 49969085 C T exonic ALDH16A1 NA synonymous SNV ALDH16A1:NM_001145396:exon12:c.C1506T:p.N502N,ALDH16A1:NM_153329:exon13:c.C1659T:p.N553N exonic ENSG00000161618 NA synonymous SNV ENSG00000161618:ENST00000600265:exon3:c.C306T:p.N102N,ENSG00000161618:ENST00000540132:exon10:c.C1170T:p.N390N,ENSG00000161618:ENST00000433981:exon11:c.C1164T:p.N388N,ENSG00000161618:ENST00000455361:exon12:c.C1506T:p.N502N,ENSG00000161618:ENST00000293350:exon13:c.C1659T:p.N553N NA NA 19q13.33 NA NA NA NA rs10853810 0.25 0.25 0.258 0.209265 0.335 0.005 0.2277 0.3427 0.0971 0.33 0.01 0.25 0.39 0.268 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840156 NA NA 0.350465 0.31616 ID=COSM1395250;OCCURENCE=1(large_intestine) 0.268 NA 4.7132016 1181 10 88718436 88718436 A C UTR5 SNCG NM_003087:c.-19A>C NA NA UTR5 ENSG00000173267 ENST00000348795:c.-19A>C,ENST00000372017:c.-19A>C NA NA NA NA 10q23.2 NA Name=TAF1,HEY1,Pol2-4H8 Name=52 NA rs1800373 0.55 0.55 0.526 0.538139 0.5477 0.7123 0.4769 0.5151 0.4233 0.54 0.71 0.44 0.48 0.5338 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459475 1.459475 NA 0.538837 0.512256 NA 0.478 NA 4.7129964 1181 12 124172746 124172746 T C intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA Name=JunD,NFKB,SRF,BCL11A,BATF NA NA rs7302449 0.41 0.41 0.401 0.445487 0.4175 0.1498 0.3444 0.7481 0.4417 0.42 0.12 0.36 0.74 0.4269 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334699 NA NA 0.442791 0.716523 NA 0.29 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114235.2;CLNDSDB=.;CLNDSDBID=. 4.712809 1181 2 28824303 28824303 C G intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA Name=CTCF NA NA rs1106882 0.29 0.29 0.275 0.269369 0.2873 0.3978 0.232 0.1657 0.2853 0.3 0.39 0.22 0.21 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867901 NA NA NA NA NA 0.304 NA 4.7127 1181 5 119016414 119016414 C G intergenic FAM170A,PRR16 dist=44897;dist=783605 NA NA ncRNA_exonic ENSG00000234259 NA NA NA Score=528;Name=lod=186 NA 5q23.1 NA NA NA NA rs330203 0.42 0.42 0.415 0.421126 0.2873 0.506 0.2795 0.5779 0.3599 0.28 0.52 0.29 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092253 NA NA NA NA NA 0.362 NA 4.7127 1181 8 124413714 124413714 G A intergenic ATAD2,WDYHV1 dist=5009;dist=15251 NA NA ncRNA_exonic ENSG00000254294 NA NA NA Score=752;Name=lod=1515 NA 8q24.13 NA NA NA NA rs3824251 0.29 0.29 0.245 0.302516 0.2873 0.3581 0.3991 0.1293 0.4264 0.29 0.4 0.34 0.14 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427963 NA NA NA NA NA 0.355 NA 4.7127 1181 1 17563967 17563967 T C intronic PADI1 NA NA NA intronic ENSG00000142623 NA NA NA NA NA 1p36.13 NA Name=Rad21,BAF170,GR,JunD,FOSL2,Ini1,p300_(N-15),CTCF,c-Fos,ERalpha_a,GTF2F1_(RAP-74),c-Jun,BAF155 Name=148 NA rs2977306 0.45 0.45 0.412 0.484026 0.4225 0.4355 0.3991 0.5325 0.592 0.41 0.43 0.41 0.54 0.4396 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813598 NA NA 0.426163 0.511121 NA 0.42 NA 4.711737 1181 4 9555405 9555405 A G intergenic DEFB131,MIR548I2 dist=103165;dist=2384 NA NA ncRNA_exonic ENSG00000242034 NA NA NA Score=700;Name=lod=934 NA 4p16.1 NA NA NA NA rs9997903 0.36 0.36 0.31 0.377396 0.2883 0.3075 0.3213 0.646 0.2178 0.3 0.3 0.27 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120893 NA NA NA NA NA 0.196 NA 4.7117 1181 12 6979010 6979010 G A intronic TPI1 NA NA NA intronic ENSG00000111669 NA NA NA NA NA 12p13.31 NA NA Name=11 NA rs2071069 0.29 0.29 0.287 0.314896 0.2883 0.2054 0.2478 0.4365 0.3384 0.3 0.18 0.3 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.260328 NA NA NA NA NA 0.246 NA 4.7117 1181 15 34666060 34666060 C T intergenic LPCAT4,GOLGA8A dist=6665;dist=5210 NA NA ncRNA_exonic ENSG00000259904,ENSG00000266205 NA NA NA Score=848;Name=lod=3716 NA 15q14 NA NA NA NA rs4984215 0.26 0.26 0.281 0.251398 0.2883 0.2341 0.2061 0.2405 0.2781 0.28 0.22 0.25 0.28 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841178 NA NA NA NA NA 0.275 NA 4.7117 1181 15 34666149 34666149 G A intergenic LPCAT4,GOLGA8A dist=6754;dist=5121 NA NA ncRNA_exonic ENSG00000259904 NA NA NA Score=848;Name=lod=3716 NA 15q14 NA NA NA NA rs4984217 0.26 0.26 0.275 0.251398 0.2883 0.2341 0.2061 0.2405 0.2781 0.28 0.22 0.25 0.28 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06476 NA NA NA NA NA 0.275 NA 4.7117 1181 15 34666223 34666223 C T intergenic LPCAT4,GOLGA8A dist=6828;dist=5047 NA NA ncRNA_exonic ENSG00000259904 NA NA NA Score=848;Name=lod=3716 NA 15q14 NA NA NA NA rs4984218 0.24 0.24 0.258 0.229034 0.2883 0.2341 0.2003 0.1589 0.2781 0.28 0.22 0.24 0.21 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030132 NA NA NA NA NA 0.261 NA 4.7117 1181 3 36211523 36211523 G A intergenic ARPP21,STAC dist=375535;dist=210574 NA NA ncRNA_exonic ENSG00000236158 NA NA NA Score=688;Name=lod=835 NA 3p22.3 NA NA NA NA rs11720944 0.42 0.42 0.406 0.430112 0.2893 0.5337 0.3343 0.5719 0.3446 0.29 0.51 0.3 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36711 NA NA NA NA NA 0.326 NA 4.7107 1181 4 9565507 9565507 C T intergenic MIR548I2,DRD5 dist=7570;dist=217751 NA NA ncRNA_exonic ENSG00000244004 NA NA NA Score=787;Name=lod=2103 NA 4p16.1 NA NA NA NA rs28408800 0.34 0.34 0.337 0.353834 0.2893 0.2966 0.3055 0.5726 0.2178 0.3 0.28 0.25 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704754 NA NA NA NA NA 0.304 NA 4.7107 1181 8 4851787 4851787 C G intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA Name=4 NA rs3860871 0.17 0.17 0.182 0.144169 0.2893 0.002 0.1715 0.1369 0.1319 0.29 0.0017 0.22 0.14 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.691869 1.691869 NA NA NA NA 0.029 NA 4.7107 1181 8 128099242 128099242 C A intergenic PCAT1,POU5F1B dist=65983;dist=328615 NA NA ncRNA_exonic ENSG00000224722 NA NA NA Score=507;Name=lod=154 NA 8q24.21 NA NA NA NA rs13257371 0.29 0.29 0.248 0.343251 0.2893 0.3492 0.402 0.1891 0.5593 0.3 0.34 0.36 0.17 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.173176 2.173176 NA NA NA NA 0.152 NA 4.7107 1181 9 33613927 33613927 G T intergenic ANKRD18B,ANXA2P2 dist=40926;dist=10296 NA NA ncRNA_exonic ENSG00000204982 NA NA NA Score=523;Name=lod=178 NA 9p13.3 NA NA NA NA rs12346912 0.31 0.31 0.437 0.307907 0.2893 0.3631 0.2608 0.3434 0.2556 0.3 0.33 0.25 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346138 NA NA NA NA NA 0.406 NA 4.7107 1181 11 36103442 36103442 C G intronic LDLRAD3 NA NA NA intronic ENSG00000179241 NA NA NA NA NA 11p13 Score=675;Name=V$P53_01 NA NA NA rs11033408 0.28 0.28 0.266 0.25599 0.2893 0.3522 0.3689 0.1392 0.2004 0.29 0.35 0.35 0.13 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136483 NA NA NA NA NA 0.326 NA 4.7107 1181 21 47864813 47864813 C T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA Name=4 NA rs2249970 0.28 0.28 0.25 0.279353 0.2893 0.376 0.3473 0.1664 0.274 0.28 0.34 0.33 0.18 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242476 NA NA NA NA NA 0.239 NA 4.7107 1181 21 47864823 47864823 G C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA Name=4 NA rs2073381 0.28 0.28 0.248 0.292732 0.2893 0.376 0.3473 0.1664 0.3425 0.28 0.34 0.33 0.18 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299653 NA NA NA NA NA 0.239 NA 4.7107 1181 19 45855524 45855524 G A exonic ERCC2 NA synonymous SNV ERCC2:NM_000400:exon22:c.C2133T:p.D711D exonic ENSG00000104884 NA synonymous SNV ENSG00000104884:ENST00000391944:exon20:c.C1899T:p.D633D,ENSG00000104884:ENST00000391941:exon21:c.C2061T:p.D687D,ENSG00000104884:ENST00000391945:exon22:c.C2133T:p.D711D NA NA 19q13.32 NA NA NA NA rs1052555 0.18 0.18 0.18 0.182308 0.337 0.0625 0.1527 0.0726 0.316 0.35 0.06 0.17 0.08 0.2859 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028925 NA NA 0.33314 0.113482 NA 0.188 NA 4.7106266 1181 2 113300283 113300283 C G intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA Name=E2F1,E2F6,Sin3Ak-20,HA-E2F1,NRSF,HMGN3,Pol2(b),E2F6_(H-50),CHD2_(N-1250),Max,ZBTB7A_(SC-34508),c-Myc NA NA rs2241804 0.19 0.19 0.163 0.204473 0.0755 0.3046 0.2147 0.2564 0.1564 0.08 0.31 0.17 0.23 0.1404 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.070612 NA NA 0.073602 0.211503 NA 0.188 NA 4.710498 1181 17 6616527 6616527 G A intronic SLC13A5 NA NA NA intronic ENSG00000141485 NA NA NA NA NA 17p13.1 NA Name=Sin3Ak-20,HEY1 NA NA rs62621831 0.08 0.08 0.073 0.071885 0.0944 0.0615 0.0346 0.0923 0.0583 0.1 0.08 0.04 0.1 0.0922 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.227282 3.227282 NA 0.10328 0.092727 NA 0.094 NA 4.71012 1181 19 19446936 19446936 G A exonic MAU2 NA synonymous SNV MAU2:NM_015329:exon3:c.G300A:p.P100P exonic ENSG00000129933 NA synonymous SNV ENSG00000129933:ENST00000262815:exon3:c.G300A:p.P100P,ENSG00000129933:ENST00000392313:exon3:c.G300A:p.P100P Score=498;Name=lod=141 NA 19p13.11 NA NA NA NA rs769267 0.58 0.58 0.572 0.526158 0.6829 0.6677 0.5432 0.3464 0.4499 0.69 0.66 0.55 0.32 0.6074 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233947 1.233947 NA 0.666264 0.396534 NA 0.5 NA 4.7101026 1181 1 47118168 47118168 C T intronic ATPAF1 NA NA NA intronic ENSG00000123472 NA NA NA NA NA 1p33 NA NA Name=3 NA rs2289447 0.22 0.22 0.192 0.189497 0.2903 0.1657 0.2867 0.0961 0.1677 0.28 0.16 0.31 0.14 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858778 NA NA NA NA NA 0.152 NA 4.7097 1181 7 150444321 150444321 G A intergenic GIMAP1-GIMAP5,TMEM176B dist=3584;dist=44055 NA NA ncRNA_exonic ENSG00000177590 NA NA NA NA NA 7q36.1 Score=798;Name=V$OLF1_01 NA NA NA rs6952662 0.26 0.26 0.241 0.257388 0.2903 0.0883 0.2507 0.3888 0.2249 0.28 0.1 0.27 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262213 NA NA NA NA NA 0.312 NA 4.7097 1181 9 20620596 20620596 C T intronic MLLT3 NA NA NA intronic ENSG00000171843 NA NA NA NA NA 9p21.3 NA NA Name=99 NA rs2780835 0.25 0.25 0.28 0.271166 0.2903 0.2014 0.1945 0.3457 0.2771 0.28 0.18 0.2 0.31 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.427719 3.427719 NA NA NA NA 0.326 NA 4.7097 1181 9 33613986 33613986 C A intergenic ANKRD18B,ANXA2P2 dist=40985;dist=10237 NA NA ncRNA_exonic ENSG00000204982 NA NA NA Score=476;Name=lod=115 NA 9p13.3 NA NA NA NA rs12346857 0.29 0.29 0.298 0.307907 0.2903 0.3631 0.2608 0.3427 0.2556 0.28 0.31 0.23 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409304 NA NA NA NA ID=COSN168512;OCCURENCE=1(large_intestine) 0.413 NA 4.7097 1181 19 20879218 20879218 T A intergenic ZNF626,ZNF85 dist=34816;dist=226841 NA NA ncRNA_exonic ENSG00000269779 NA NA NA Score=397;Name=lod=55 NA 19p12 NA NA NA NA rs2018561 0.4 0.4 0.401 0.419329 0.2903 0.371 0.4207 0.6641 0.2699 0.27 0.37 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327808 NA NA NA NA NA 0.362 NA 4.7097 1181 19 58352522 58352522 G A exonic ZNF587B NA synonymous SNV ZNF587B:NM_001204818:exon3:c.G480A:p.R160R exonic ENSG00000269343 NA synonymous SNV ENSG00000269343:ENST00000316462:exon3:c.G477A:p.R159R,ENSG00000269343:ENST00000442832:exon3:c.G480A:p.R160R,ENSG00000269343:ENST00000594901:exon3:c.G480A:p.R160R,ENSG00000269343:ENST00000594328:exon4:c.G330A:p.R110R NA NA 19q13.43 NA NA NA NA rs12981244 0.58 0.58 0.574 0.572883 0.4622 0.6796 0.5634 0.7405 0.3569 0.47 0.67 0.52 0.71 0.4949 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630926 NA NA NA NA NA 0.471 NA 4.7095666 1181 18 33282985 33282985 A C intronic GALNT1 NA NA NA intronic ENSG00000141429 NA NA NA NA NA 18q12.2 NA Name=c-Jun NA NA rs9989616 0.09 0.09 0.071 0.0844649 0.0994 0.0258 0.2089 0.0953 0.0266 0.1 0.03 0.15 0.11 0.099 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517708 NA NA 0.092084 0.071266 NA 0.094 NA 4.709516 1181 5 78580156 78580156 A G intronic JMY NA NA NA ncRNA_exonic ENSG00000213757 NA NA NA Score=815;Name=lod=2747 NA 5q14.1 NA NA NA NA rs4704551 0.52 0.52 0.485 0.480431 0.6243 0.4841 0.5562 0.3646 0.4315 0.63 0.46 0.53 0.42 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.763981 2.763981 NA NA NA NA 0.572 NA 4.7090333 1181 12 93251903 93251903 C A intronic EEA1 NA NA NA ncRNA_exonic ENSG00000258012 NA NA NA Score=821;Name=lod=2881 NA 12q22 NA NA NA NA rs731799 0.7 0.7 0.679 0.705871 0.6243 0.9405 0.768 0.4977 0.7853 0.62 0.94 0.75 0.49 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175573 NA NA NA NA NA 0.616 NA 4.7090333 1181 12 93252527 93252527 A G intronic EEA1 NA NA NA ncRNA_exonic ENSG00000258012 NA NA NA Score=821;Name=lod=2881 NA 12q22 NA NA NA NA rs2133299 0.69 0.69 0.662 0.703474 0.6243 0.9405 0.7666 0.4894 0.7853 0.62 0.94 0.75 0.48 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167923 NA NA NA NA NA 0.616 NA 4.7090333 1181 12 93278060 93278060 C T intronic EEA1 NA NA NA ncRNA_exonic ENSG00000257195 NA NA NA Score=682;Name=lod=790 NA 12q22 NA NA NA NA rs1809871 0.69 0.69 0.637 0.701078 0.6243 0.9405 0.7666 0.4803 0.7853 0.62 0.94 0.75 0.48 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.585409 1.585409 NA NA NA NA 0.587 NA 4.7090333 1181 12 93278423 93278423 A G intronic EEA1 NA NA NA ncRNA_exonic ENSG00000257195 NA NA NA Score=278;Name=lod=18 NA 12q22 NA NA NA NA rs10859387 0.7 0.7 0.649 0.703474 0.6243 0.9405 0.768 0.4887 0.7853 0.62 0.94 0.75 0.49 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392665 NA NA NA NA NA 0.616 NA 4.7090333 1181 17 8464856 8464856 G A intronic MYH10 NA NA NA ncRNA_exonic ENSG00000244604 NA NA NA Score=705;Name=lod=979 NA 17p13.1 NA NA NA NA rs1845588 0.5 0.5 0.467 0.46885 0.6243 0.496 0.5375 0.2519 0.5256 0.62 0.51 0.6 0.25 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298698 NA NA NA NA NA 0.464 NA 4.7090333 1181 5 76841666 76841666 A G intergenic WDR41,OTP dist=53334;dist=82871 NA NA ncRNA_exonic ENSG00000244019 NA NA NA Score=796;Name=lod=2299 NA 5q13.3 NA NA NA NA rs13164056 0.19 0.19 0.157 0.14976 0.2913 0.1042 0.2522 0.0431 0.1227 0.27 0.12 0.28 0.06 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354979 NA NA NA NA NA 0.167 NA 4.7087 1181 6 32608991 32608991 A G intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9272685 NA NA 0.23 0.278554 0.2913 0.2302 0.3444 0.3298 0.1994 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49642 NA NA NA NA NA 0.043 NA 4.7087 1181 14 57863385 57863385 C T intronic NAA30 NA NA NA intronic ENSG00000139977 NA NA NA NA NA 14q22.3 Score=742;Name=V$TCF11MAFG_01 NA NA NA rs12894584 0.13 0.13 0.127 0.105631 0.2913 0.001 0.1542 0.0129 0.1135 0.29 NA 0.16 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844618 NA NA NA NA NA 0.181 NA 4.7087 1181 18 6462642 6462642 C G intergenic L3MBTL4,LOC100130480 dist=47732;dist=48773 NA NA ncRNA_exonic ENSG00000235552 NA NA NA Score=607;Name=lod=391 NA 18p11.31 NA NA NA NA rs3933539 0.3 0.3 0.269 0.295527 0.2913 0.4583 0.2925 0.1467 0.3354 0.28 0.44 0.31 0.15 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.538512 1.538512 NA NA NA NA 0.29 NA 4.7087 1181 11 113264272 113264272 T C exonic ANKK1 NA synonymous SNV ANKK1:NM_178510:exon2:c.T255C:p.S85S exonic ENSG00000170209 NA synonymous SNV ENSG00000170209:ENST00000303941:exon2:c.T255C:p.S85S Score=313;Name=lod=25 NA 11q23.2 NA NA NA NA rs17115439 0.57 0.57 0.551 0.525958 0.675 0.5536 0.5692 0.3502 0.5511 0.68 0.58 0.58 0.39 0.6098 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.797922 NA NA 0.673653 0.44713 NA 0.471 NA 4.7082136 1181 3 122290579 122290579 C T exonic DTX3L NA synonymous SNV DTX3L:NM_138287:exon5:c.C2208T:p.A736A exonic ENSG00000163840 NA synonymous SNV ENSG00000163840:ENST00000383661:exon4:c.C672T:p.A224A,ENSG00000163840:ENST00000296161:exon5:c.C2208T:p.A736A NA NA 3q21.1 NA NA NA NA rs2036342 0.32 0.32 0.315 0.34345 0.3211 0.4355 0.2622 0.2731 0.4243 0.32 0.41 0.3 0.25 0.3237 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419031 NA NA 0.313837 0.294144 NA 0.225 NA 4.7080296 1181 1 100182884 100182884 C T intronic FRRS1 NA NA NA intronic ENSG00000156869 NA NA NA NA NA 1p21.2 NA NA Name=2 NA rs6696586 0.36 0.36 0.375 0.407548 0.2922 0.3423 0.3501 0.5159 0.4877 0.31 0.33 0.31 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618947 NA NA NA NA NA 0.355 NA 4.7078 1181 3 36211295 36211295 T C intergenic ARPP21,STAC dist=375307;dist=210802 NA NA ncRNA_exonic ENSG00000236158 NA NA NA Score=688;Name=lod=835 NA 3p22.3 NA NA NA NA rs35581048 0.42 0.42 0.398 0.43111 0.2922 0.5347 0.3357 0.5719 0.3446 0.29 0.51 0.3 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02889 NA NA NA NA NA 0.304 NA 4.7078 1181 15 90273070 90273070 A G intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA Name=2 NA rs12148067 0.3 0.3 0.32 0.319688 0.2922 0.0863 0.2176 0.5893 0.2965 0.28 0.09 0.26 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.264693 1.264693 NA NA NA NA 0.406 NA 4.7078 1181 1 3418391 3418391 C T exonic MEGF6 NA synonymous SNV MEGF6:NM_001409:exon18:c.G2283A:p.P761P exonic ENSG00000162591 NA synonymous SNV ENSG00000162591:ENST00000294599:exon15:c.G1968A:p.P656P,ENSG00000162591:ENST00000356575:exon18:c.G2283A:p.P761P,ENSG00000162591:ENST00000485002:exon18:c.G2304A:p.P768P NA NA 1p36.32 NA NA NA NA rs4648508 0.3 0.3 0.291 0.286142 0.336 0.3056 0.2882 0.1914 0.3415 0.33 0.35 0.28 0.24 0.3124 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886596 NA NA 0.31054 0.188438 ID=COSM1342028;OCCURENCE=2(large_intestine) 0.138 NA 4.7077266 1181 17 37071189 37071189 C T intronic LASP1 NA NA NA intronic ENSG00000002834 NA NA NA NA NA 17q12 NA Name=USF-1 Name=14 NA rs2241009 0.68 0.68 0.712 0.675319 0.6471 0.5913 0.5533 0.9138 0.5552 0.66 0.58 0.58 0.89 0.6455 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397019 NA NA NA NA NA 0.775 NA 4.7074 1181 8 110420384 110420384 T C exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon18:c.T1920C:p.N640N exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000378402:exon18:c.T1920C:p.N640N NA NA 8q23.1 NA NA NA NA rs13254245 0.32 0.32 0.274 0.314097 0.3111 0.3929 0.4741 0.1551 0.3374 0.31 0.41 0.42 0.17 0.3301 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337905 NA NA 0.318226 0.188275 NA 0.297 NA 4.7072406 1181 5 31823032 31823032 T C intronic PDZD2 NA NA NA ncRNA_exonic ENSG00000224282 NA NA NA Score=669;Name=lod=696 NA 5p13.3 NA NA NA NA rs6869849 0.56 0.56 0.56 0.548922 0.6262 0.2728 0.6441 0.7216 0.453 0.62 0.31 0.66 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785357 NA NA NA NA NA 0.58 NA 4.7071333 1181 12 19609503 19609503 A G intronic AEBP2 NA NA NA ncRNA_exonic ENSG00000245205 NA NA NA Score=785;Name=lod=2070 NA 12p12.3 NA NA NA NA rs10734689 0.48 0.48 0.456 0.445687 0.6262 0.494 0.389 0.2413 0.5266 0.61 0.53 0.4 0.26 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809509 NA NA NA NA NA 0.486 NA 4.7071333 1181 16 47001626 47001626 G A intronic DNAJA2 NA NA NA intronic ENSG00000069345 NA NA NA NA NA 16q12.1 NA NA Name=4 NA rs2034598 0.2 0.2 0.195 0.172724 0.2932 0.1091 0.2104 0.0946 0.1933 0.3 0.12 0.23 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358814 NA NA NA NA NA 0.181 NA 4.7068 1181 8 24359068 24359068 G A exonic ADAM7 NA synonymous SNV ADAM7:NM_003817:exon20:c.G2187A:p.L729L exonic ENSG00000069206 NA synonymous SNV ENSG00000069206:ENST00000520720:exon14:c.G1503A:p.L501L,ENSG00000069206:ENST00000175238:exon20:c.G2187A:p.L729L,ENSG00000069206:ENST00000380789:exon20:c.G2187A:p.L729L NA NA 8p21.2 NA NA NA NA rs13277171 0.25 0.25 0.23 0.264776 0.3042 0.1885 0.428 0.1006 0.409 0.31 0.2 0.41 0.1 0.3235 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.20622 NA NA 0.332326 0.126645 ID=COSM1456216;OCCURENCE=1(large_intestine) 0.174 NA 4.7066406 1181 22 30374920 30374920 C T intronic MTMR3 NA NA NA intronic ENSG00000100330 NA NA NA Score=675;Name=lod=740 NA 22q12.2 NA NA NA NA rs737907 0.1 0.1 0.094 0.104633 0.0924 0.0784 0.1081 0.1172 0.1247 0.1 0.08 0.09 0.12 0.1083 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677785 NA NA 0.092674 0.11212 NA 0.08 NA 4.706626 1181 12 95602569 95602569 A G intronic FGD6 NA NA NA intronic ENSG00000180263 NA NA NA NA NA 12q22 NA NA Name=8 NA rs11107934 0.14 0.14 0.115 0.128794 0.0775 0.2331 0.1571 0.0983 0.0951 0.08 0.24 0.16 0.1 0.119 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023107 NA NA 0.097326 0.095778 NA 0.094 NA 4.706174 1181 5 98169263 98169263 G C intergenic RGMB,CHD1 dist=37065;dist=21645 NA NA ncRNA_exonic ENSG00000250162 NA NA NA Score=690;Name=lod=853 NA 5q15 NA NA NA NA rs331930 0.31 0.31 0.331 0.314896 0.2942 0.0962 0.2378 0.6029 0.227 0.28 0.11 0.27 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.180291 NA NA NA NA NA 0.37 NA 4.7058 1181 7 156426292 156426292 A G intergenic LINC00244,C7orf13 dist=92497;dist=4768 NA NA ncRNA_exonic ENSG00000234450 NA NA NA Score=746;Name=lod=1438 NA 7q36.3 NA NA NA NA rs13237363 0.42 0.42 0.427 0.404153 0.2942 0.4792 0.2997 0.6309 0.2076 0.31 0.47 0.28 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758778 NA NA NA NA NA 0.362 NA 4.7058 1181 16 72038363 72038363 T C intergenic PKD1L3,DHODH dist=4486;dist=4280 NA NA ncRNA_exonic ENSG00000263311 NA NA NA Score=646;Name=lod=561 NA 16q22.2 NA NA NA NA rs929866 0.49 0.49 0.444 0.480831 0.2942 0.7153 0.5749 0.5386 0.2863 0.28 0.7 0.53 0.52 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267708 NA NA NA NA NA 0.362 NA 4.7058 1181 1 203743653 203743653 C T exonic LAX1 NA synonymous SNV LAX1:NM_001136190:exon5:c.C993T:p.D331D,LAX1:NM_017773:exon5:c.C1041T:p.D347D exonic ENSG00000122188 NA synonymous SNV ENSG00000122188:ENST00000367217:exon5:c.C993T:p.D331D,ENSG00000122188:ENST00000442561:exon5:c.C1041T:p.D347D NA NA 1q32.1 NA NA NA NA rs3766748 0.27 0.27 0.265 0.285144 0.331 0.2321 0.1628 0.289 0.3742 0.32 0.25 0.19 0.27 0.3044 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024044 NA NA 0.325581 0.29369 NA 0.217 NA 4.7056856 1181 11 123813940 123813940 G C exonic OR6T1 NA synonymous SNV OR6T1:NM_001005187:exon1:c.C606G:p.L202L exonic ENSG00000181499 NA synonymous SNV ENSG00000181499:ENST00000321252:exon1:c.C606G:p.L202L NA NA 11q24.1 NA NA NA NA rs7130003 0.26 0.26 0.248 0.263179 0.3181 0.3839 0.3199 0.0582 0.319 0.33 0.35 0.27 0.06 0.3097 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.848553 NA NA 0.333217 0.109219 NA 0.312 NA 4.7056496 1181 1 165377552 165377552 G A exonic RXRG NA synonymous SNV RXRG:NM_001256571:exon7:c.C681T:p.V227V,RXRG:NM_006917:exon8:c.C1050T:p.V350V,RXRG:NM_001256570:exon9:c.C681T:p.V227V exonic ENSG00000143171 NA synonymous SNV ENSG00000143171:ENST00000359842:exon8:c.C1050T:p.V350V Score=395;Name=lod=54 NA 1q23.3 NA NA NA NA rs2134095 0.53 0.53 0.487 0.478834 0.671 0.5079 0.6023 0.2284 0.502 0.68 0.51 0.62 0.23 0.6105 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522951 NA NA 0.679884 0.309578 NA 0.449 NA 4.7052826 1181 1 204946764 204946764 T C intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA Name=NFKB,TCF12 NA NA rs6663324 0.1 0.1 0.111 0.102037 0.0765 0.0139 0.0677 0.2262 0.0757 0.08 0.02 0.07 0.26 0.1012 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.098489 4.098489 NA 0.117113 0.238202 NA 0.196 NA 4.705187 1181 13 43788031 43788031 C T UTR3 ENOX1 NM_001242863:c.*95G>A,NM_017993:c.*95G>A,NM_001127615:c.*95G>A NA NA UTR3 ENSG00000120658 ENST00000261488:c.*95G>A,ENST00000412891:c.*95G>A NA NA NA NA 13q14.11 NA NA Name=3 NA rs1044753 0.48 0.48 0.456 0.453275 0.6282 0.5446 0.4654 0.152 0.5777 0.63 0.55 0.52 0.17 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03387 NA NA NA NA NA 0.362 NA 4.7051334 1181 17 80535141 80535141 T A intronic FOXK2 NA NA NA ncRNA_exonic ENSG00000265136 NA NA NA Score=397;Name=lod=55 NA 17q25.3 NA NA NA NA rs12453001 0.63 0.63 0.597 0.644369 0.6282 0.7341 0.5937 0.4977 0.8027 0.63 0.73 0.58 0.53 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.307698 NA NA NA NA NA 0.616 NA 4.7051333 1182 11 123813823 123813823 G A exonic OR6T1 NA synonymous SNV OR6T1:NM_001005187:exon1:c.C723T:p.C241C exonic ENSG00000181499 NA synonymous SNV ENSG00000181499:ENST00000321252:exon1:c.C723T:p.C241C NA NA 11q24.1 NA NA NA NA rs7129884 0.26 0.26 0.239 0.26278 0.3181 0.3839 0.3228 0.0552 0.319 0.33 0.35 0.27 0.05 0.3099 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.443614 NA NA 0.333682 0.108084 NA 0.304 NA 4.7049846 1182 3 189884587 189884587 G T intergenic LEPREL1,CLDN1 dist=44361;dist=138903 NA NA ncRNA_exonic ENSG00000238077 NA NA NA Score=619;Name=lod=436 NA 3q28 NA NA NA NA rs9831208 0.29 0.29 0.275 0.341454 0.2952 0.256 0.3343 0.323 0.5072 0.3 0.22 0.32 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284967 NA NA NA NA NA 0.348 NA 4.7048 1182 3 189884801 189884801 C T intergenic LEPREL1,CLDN1 dist=44575;dist=138689 NA NA ncRNA_exonic ENSG00000238077 NA NA NA Score=619;Name=lod=436 NA 3q28 NA NA NA NA rs9831273 0.29 0.29 0.264 0.341653 0.2952 0.256 0.3343 0.3238 0.5072 0.3 0.22 0.32 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085619 NA NA NA NA NA 0.348 NA 4.7048 1182 13 99262567 99262567 G A intergenic STK24,SLC15A1 dist=33171;dist=73488 NA NA ncRNA_exonic ENSG00000217686 NA NA NA Score=507;Name=lod=153 NA 13q32.2 NA NA NA NA rs4772108 0.28 0.28 0.263 0.2498 0.2952 0.374 0.2061 0.1399 0.2546 0.28 0.4 0.23 0.17 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238114 NA NA NA NA ID=COSN164535;OCCURENCE=1(breast) 0.261 NA 4.7048 1182 14 106974665 106974665 G A intergenic LINC00221,NONE dist=23136;dist=NONE NA NA ncRNA_exonic ENSG00000229092 NA NA NA Score=410;Name=lod=62 NA 14q32.33 NA NA NA NA rs35455417 0.41 0.41 0.395 0.453474 0.2952 0.5089 0.3718 0.5371 0.5041 0.3 0.49 0.33 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494059 NA 1 NA NA NA 0.362 NA 4.7048 1182 11 123814489 123814489 A G exonic OR6T1 NA synonymous SNV OR6T1:NM_001005187:exon1:c.T57C:p.S19S exonic ENSG00000181499 NA synonymous SNV ENSG00000181499:ENST00000321252:exon1:c.T57C:p.S19S NA NA 11q24.1 NA NA NA NA rs4936859 0.26 0.26 0.238 0.262979 0.3181 0.3839 0.3228 0.056 0.319 0.33 0.35 0.27 0.05 0.3104 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.196063 NA NA 0.333915 0.108084 NA 0.304 NA 4.7042516 1182 19 47585517 47585517 G C exonic ZC3H4 NA synonymous SNV ZC3H4:NM_015168:exon10:c.C1254G:p.L418L exonic ENSG00000130749 NA synonymous SNV ENSG00000130749:ENST00000253048:exon10:c.C1254G:p.L418L Score=552;Name=lod=234 NA 19q13.32 NA NA NA NA rs7250850 0.42 0.42 0.402 0.374601 0.6869 0.2758 0.5403 0.1006 0.408 0.69 0.26 0.53 0.1 0.5761 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327424 1.327424 NA 0.69952 0.242872 NA 0.377 NA 4.7041466 1182 1 159272060 159272060 T C intronic FCER1A NA NA NA intronic ENSG00000179639 NA NA NA NA Name=IgE levels 1q23.2 NA NA NA NA rs2251746 0.15 0.15 0.138 0.149161 0.2962 0.0446 0.1441 0.0446 0.2505 0.29 0.04 0.16 0.06 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.645832 NA NA NA NA NA 0.123 NA 4.7038 1182 5 147302184 147302184 T C intergenic C5orf46,SPINK5 dist=16083;dist=141351 NA NA ncRNA_exonic ENSG00000250346 NA NA NA Score=803;Name=lod=2447 NA 5q32 NA NA NA NA rs11168004 0.46 0.46 0.464 0.502596 0.2962 0.4663 0.3329 0.829 0.4315 0.3 0.45 0.34 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047523 NA NA NA NA NA 0.464 NA 4.7038 1182 10 30980037 30980037 C T intergenic LYZL2,ZNF438 dist=61390;dist=153528 NA NA ncRNA_exonic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA Name=2 NA rs11008184 0.24 0.24 0.223 0.24381 0.2962 0.2609 0.3386 0.0953 0.3057 0.3 0.24 0.31 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.428238 NA NA NA NA NA 0.21 NA 4.7038 1182 11 9983737 9983737 C T intronic SBF2 NA NA NA intronic ENSG00000133812 NA NA NA NA NA 11p15.4 Score=865;Name=V$OCT1_02 NA NA NA rs2403226 0.26 0.26 0.259 0.253195 0.2962 0.1865 0.3473 0.1899 0.2965 0.3 0.2 0.35 0.21 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205472 NA NA NA NA NA 0.275 NA 4.7038 1182 17 81006286 81006286 G A intronic B3GNTL1 NA NA NA intronic ENSG00000175711 NA NA NA NA NA 17q25.3 NA Name=USF2,USF-1 NA NA rs10852789 0.3 0.3 0.295 0.285942 0.2962 0.3661 0.2709 0.2557 0.2444 0.28 0.39 0.28 0.24 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129712 NA NA NA NA NA 0.283 NA 4.7038 1182 1 203743122 203743122 G A exonic LAX1 NA synonymous SNV LAX1:NM_001136190:exon5:c.G462A:p.S154S,LAX1:NM_017773:exon5:c.G510A:p.S170S exonic ENSG00000122188 NA synonymous SNV ENSG00000122188:ENST00000367217:exon5:c.G462A:p.S154S,ENSG00000122188:ENST00000442561:exon5:c.G510A:p.S170S NA NA 1q32.1 NA NA NA NA rs3820194 0.27 0.27 0.286 0.294329 0.331 0.2321 0.1657 0.3222 0.3742 0.32 0.25 0.19 0.29 0.3066 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108859 NA NA 0.325581 0.316614 NA 0.217 NA 4.7034856 1182 18 11610163 11610163 G C intergenic PIEZO2,GNAL dist=461402;dist=78851 NA NA ncRNA_exonic ENSG00000236396 NA NA NA Score=536;Name=lod=202 NA 18p11.21 NA NA NA NA rs62084100 0.7 0.7 0.67 0.624401 0.6332 0.7222 0.7277 0.3805 0.771 0.72 0.77 0.77 0.53 0.6634 0.77 1 T . . . . . . . . -0.695 N . . -0.952 T 0.000 T . -2.57 0.003 . -2.418 0.155 . -2.570265 NA NA NA NA NA 0.377 NA 4.7034 1182 8 18257795 18257795 C T exonic NAT2 NA synonymous SNV NAT2:NM_000015:exon2:c.C282T:p.Y94Y exonic ENSG00000156006 NA synonymous SNV ENSG00000156006:ENST00000286479:exon2:c.C282T:p.Y94Y NA NA 8p22 NA NA NA NA rs1041983 0.36 0.36 0.368 0.397364 0.3052 0.4395 0.2911 0.4682 0.4284 0.3 0.39 0.28 0.46 0.3449 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.664402 NA NA 0.313605 0.442805 NA 0.399 NA 4.7029616 1182 15 34446955 34446955 C T intronic KATNBL1 NA NA NA intronic ENSG00000134152 NA NA NA NA NA 15q14 NA Name=KAP1,Pol2(b),SETDB1 NA NA rs77111922 0.1 0.1 0.093 0.0948482 0.1392 0.0268 0.0937 0.0741 0.1483 0.15 0.03 0.12 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945085 NA NA 0.157961 0.083333 NA 0.058 NA 4.702839 1182 6 75848376 75848376 C T intronic COL12A1 NA NA NA intronic ENSG00000111799 NA NA NA NA NA 6q13 NA NA Name=2 NA rs240737 0.38 0.38 0.402 0.389776 0.2972 0.3323 0.3256 0.587 0.3231 0.28 0.37 0.31 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04375 NA NA NA NA NA 0.399 NA 4.7028 1182 10 30978433 30978433 A G intergenic LYZL2,ZNF438 dist=59786;dist=155132 NA NA ncRNA_intronic ENSG00000234814 NA NA NA Score=595;Name=lod=349 NA 10p11.23 NA NA NA NA rs4747723 0.28 0.28 0.253 0.276957 0.2972 0.2609 0.3559 0.2103 0.3067 0.3 0.25 0.33 0.26 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118129 NA NA NA NA NA 0.203 NA 4.7028 1182 16 56973335 56973335 A G intronic HERPUD1 NA NA NA intronic ENSG00000051108 NA NA NA NA NA 16q13 NA Name=Pol2 NA NA rs2133783 0.38 0.38 0.396 0.435304 0.2972 0.2192 0.3703 0.7504 0.4202 0.29 0.18 0.4 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268344 NA NA NA NA NA 0.37 NA 4.7028 1182 6 29913001 29913001 T C intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs2735101 0.19 0.19 0.168 NA NA NA NA NA NA 0.15 0.18 0.18 0.26 0.1553 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.863253 1.863253 NA 0.142093 0.205856 NA 0.087 NA 4.702607 1182 11 26677947 26677947 C T exonic ANO3 NA synonymous SNV ANO3:NM_031418:exon26:c.C2682T:p.P894P exonic ENSG00000134343 NA synonymous SNV ENSG00000134343:ENST00000531568:exon23:c.C2244T:p.P748P,ENSG00000134343:ENST00000256737:exon26:c.C2682T:p.P894P,ENSG00000134343:ENST00000525139:exon26:c.C2634T:p.P878P,ENSG00000134343:ENST00000537978:exon27:c.C2634T:p.P878P Score=575;Name=lod=289 NA 11p14.2 NA NA NA NA rs10835051 0.54 0.54 0.488 0.558506 0.666 0.5655 0.5519 0.3268 0.7587 0.68 0.53 0.54 0.32 0.6347 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881102 NA NA 0.663643 0.360872 NA 0.5 NA 4.7023236 1182 2 73597718 73597718 A G intergenic EGR4,ALMS1 dist=76889;dist=15168 NA NA ncRNA_exonic ENSG00000214484 NA NA NA Score=798;Name=lod=2326 NA 2p13.1 NA NA NA NA rs1852644 0.43 0.43 0.424 0.44369 0.2982 0.2183 0.415 0.8759 0.2618 0.31 0.24 0.38 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063671 NA NA NA NA NA 0.514 NA 4.7018 1182 5 2787786 2787786 T G intergenic C5orf38,LOC285577 dist=32275;dist=629480 NA NA ncRNA_exonic ENSG00000249541 NA NA NA Score=536;Name=lod=201 NA 5p15.33 NA NA NA NA rs12332277 0.34 0.34 0.325 0.323682 0.2982 0.3988 0.4424 0.2474 0.2914 0.3 0.42 0.43 0.26 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66935 NA NA NA NA NA 0.384 NA 4.7018 1182 5 2787860 2787860 C T intergenic C5orf38,LOC285577 dist=32349;dist=629406 NA NA ncRNA_exonic ENSG00000249541 NA NA NA Score=536;Name=lod=201 NA 5p15.33 NA NA NA NA rs12332766 0.34 0.34 0.308 0.323682 0.2982 0.3988 0.4424 0.2474 0.2914 0.3 0.42 0.43 0.26 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067497 NA NA NA NA NA 0.384 NA 4.7018 1182 5 2787993 2787993 A G intergenic C5orf38,LOC285577 dist=32482;dist=629273 NA NA ncRNA_exonic ENSG00000249541 NA NA NA Score=295;Name=lod=21 NA 5p15.33 NA NA NA NA rs12332237 0.34 0.34 0.313 0.323682 0.2982 0.3988 0.4424 0.2474 0.2914 0.3 0.42 0.43 0.26 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756029 NA NA NA NA NA 0.384 NA 4.7018 1182 5 2788230 2788230 A G intergenic C5orf38,LOC285577 dist=32719;dist=629036 NA NA ncRNA_exonic ENSG00000249541 NA NA NA Score=510;Name=lod=158 NA 5p15.33 NA NA NA NA rs59235048 0.34 0.34 0.31 0.324081 0.2982 0.3988 0.4424 0.2489 0.2914 0.3 0.42 0.43 0.26 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033801 NA NA NA NA NA 0.384 NA 4.7018 1182 6 89871759 89871759 G A intronic PM20D2 NA NA NA intronic ENSG00000146281 NA NA NA NA NA 6q15 Score=860;Name=V$GATA1_02 NA NA NA rs2297309 0.36 0.36 0.35 0.366613 0.2982 0.255 0.3862 0.5643 0.271 0.29 0.29 0.38 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249825 NA NA NA NA NA 0.37 NA 4.7018 1182 7 128173720 128173720 A G intergenic METTL2B,FLJ45340 dist=30742;dist=107575 NA NA ncRNA_exonic ENSG00000242588 NA NA NA Score=600;Name=lod=366 NA 7q32.1 NA NA NA NA rs62483278 0.33 0.33 0.268 0.300319 0.2982 0.3313 0.3804 0.177 0.3804 0.34 0.42 0.36 0.16 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.630302 2.630302 NA NA NA ID=COSN168190;OCCURENCE=1(large_intestine) 0.203 NA 4.7018 1182 10 100157368 100157368 C T intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 Score=984;Name=V$AP4_Q6 NA NA NA rs10786418 0.38 0.38 0.371 0.391973 0.2982 0.4415 0.3559 0.4017 0.4499 0.31 0.46 0.34 0.43 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009906 NA NA NA NA NA 0.239 NA 4.7018 1182 14 103440473 103440473 G C exonic CDC42BPB NA synonymous SNV CDC42BPB:NM_006035:exon12:c.C1521G:p.L507L exonic ENSG00000198752 NA synonymous SNV ENSG00000198752:ENST00000361246:exon12:c.C1521G:p.L507L NA NA 14q32.32 NA NA Name=5 NA rs8009219 0.59 0.59 0.619 0.590855 0.659 0.5764 0.6758 0.4138 0.7147 0.65 0.64 0.65 0.39 0.6551 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659609 NA NA 0.651395 0.465048 NA 0.587 NA 4.7011716 1182 4 57222426 57222426 A G intronic AASDH NA NA NA ncRNA_exonic ENSG00000242083 NA NA NA Score=776;Name=lod=1907 NA 4q12 NA NA NA NA rs4865090 0.62 0.62 0.599 0.647364 0.6322 0.5268 0.7406 0.6884 0.6656 0.63 0.51 0.71 0.68 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092499 NA NA NA NA NA 0.63 NA 4.7011333 1182 7 47921682 47921682 A T exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon20:c.T3267A:p.A1089A exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon20:c.T3267A:p.A1089A NA NA 7p12.3 NA NA NA NA rs10951936 0.28 0.28 0.236 0.247204 0.334 0.2242 0.3674 0.1914 0.1718 0.34 0.21 0.41 0.17 0.3007 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458499 NA NA 0.331047 0.209487 NA 0.377 NA 4.7009196 1182 1 160141285 160141285 C T intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA Name=39 NA rs669162 0.25 0.25 0.217 0.280551 0.2992 0.4167 0.3415 0.1747 0.2209 0.23 0.37 0.27 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135853 NA NA NA NA ID=COSN163290;OCCURENCE=1(breast) NA NA 4.7008 1182 7 112125089 112125089 A C intronic LSMEM1 NA NA NA intronic ENSG00000181016 NA NA NA NA NA 7q31.1 NA Name=CEBPB,GR,Egr-1,STAT3 NA NA rs3095027 NA NA NA 0.172125 0.2992 0.0288 0.1758 0.2095 0.136 NA NA NA NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.985557 NA NA NA NA NA 0.188 NA 4.7008 1182 19 9237435 9237435 A G exonic OR7G3 NA synonymous SNV OR7G3:NM_001001958:exon1:c.T192C:p.S64S exonic ENSG00000170920 NA synonymous SNV ENSG00000170920:ENST00000305444:exon1:c.T192C:p.S64S NA NA 19p13.2 NA NA NA NA rs10407484 0.41 0.41 0.43 0.449081 0.3141 0.3651 0.2421 0.8041 0.3415 0.31 0.35 0.22 0.79 0.3427 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891754 NA NA 0.309186 0.699047 ID=COSM1129635;OCCURENCE=1(prostate) 0.377 NA 4.7006806 1182 19 53911510 53911510 G A exonic ZNF765 NA synonymous SNV ZNF765:NM_001040185:exon4:c.G702A:p.Q234Q exonic ENSG00000196417 NA synonymous SNV ENSG00000196417:ENST00000396408:exon4:c.G702A:p.Q234Q NA NA 19q13.42 NA NA NA NA rs8182488 0.21 0.21 0.18 0.227636 0.3201 0.1042 0.3775 0.0522 0.3906 0.33 0.09 0.35 0.07 0.3158 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449532 NA NA 0.330386 0.095455 NA 0.188 NA 4.7003806 1182 4 56309992 56309992 A G exonic CLOCK NA synonymous SNV CLOCK:NM_004898:exon20:c.T1764C:p.N588N,CLOCK:NM_001267843:exon21:c.T1764C:p.N588N exonic ENSG00000134852 NA synonymous SNV ENSG00000134852:ENST00000309964:exon19:c.T1764C:p.N588N,ENSG00000134852:ENST00000513440:exon20:c.T1764C:p.N588N,ENSG00000134852:ENST00000381322:exon21:c.T1764C:p.N588N Score=545;Name=lod=218 NA 4q12 NA NA NA NA rs3736544 0.7 0.7 0.714 0.723043 0.6501 0.6736 0.7147 0.7489 0.82 0.66 0.7 0.73 0.76 0.6958 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936136 NA NA 0.620698 0.732864 ID=COSM1131106;OCCURENCE=1(prostate) 0.775 NA 4.7000686 1182 5 79598589 79598589 G T intergenic LOC644936,SPZ1 dist=2292;dist=17201 NA NA ncRNA_exonic ENSG00000184188 NA NA NA Score=693;Name=lod=872 NA 5q14.1 NA NA NA NA rs11738136 0.37 0.37 0.386 0.385184 0.3002 0.4246 0.3617 0.4387 0.3763 0.3 0.42 0.38 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1961 NA NA NA NA NA 0.333 NA 4.6998 1182 8 85861290 85861290 A T intergenic RALYL,LRRCC1 dist=27212;dist=158033 NA NA ncRNA_exonic ENSG00000203413 NA NA NA Score=814;Name=lod=2717 NA 8q21.2 NA NA NA NA rs12542468 0.37 0.37 0.355 0.355032 0.3002 0.6022 0.4308 0.1634 0.362 0.3 0.62 0.41 0.16 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53352 NA NA NA NA NA 0.399 NA 4.6998 1182 9 14747157 14747157 A C intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 Score=825;Name=V$FREAC4_01 NA NA NA rs2270530 0.32 0.32 0.32 0.34345 0.3002 0.2778 0.3386 0.3865 0.4008 0.31 0.26 0.32 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.398398 1.398398 NA NA NA NA 0.362 NA 4.6998 1182 14 107170062 107170062 A G intergenic LINC00221,NONE dist=218533;dist=NONE NA NA exonic ENSG00000211973 NA nonsynonymous SNV ENSG00000211973:ENST00000390633:exon2:c.T220C:p.F74L NA NA 14q32.33 NA NA Name=5 NA rs55891010 0.4 0.4 0.359 0.446086 0.3748 0.4861 0.415 0.3321 0.6544 0.37 0.46 0.43 0.36 0.4246 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91416 NA 0.28 0.334364 0.232091 NA 0.391 NA 4.6995694 1182 3 53769479 53769479 C T exonic CACNA1D NA synonymous SNV CACNA1D:NM_001128839:exon20:c.C2700T:p.S900S,CACNA1D:NM_001128840:exon20:c.C2700T:p.S900S,CACNA1D:NM_000720:exon21:c.C2760T:p.S920S exonic ENSG00000157388 NA synonymous SNV ENSG00000157388:ENST00000481478:exon15:c.C1779T:p.S593S,ENSG00000157388:ENST00000350061:exon20:c.C2700T:p.S900S,ENSG00000157388:ENST00000422281:exon20:c.C2700T:p.S900S,ENSG00000157388:ENST00000288139:exon21:c.C2760T:p.S920S NA NA 3p21.1 NA NA NA NA rs1045958 0.22 0.22 0.186 0.192292 0.3191 0.2153 0.3112 0.0159 0.1922 0.33 0.21 0.29 0.03 0.2994 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579146 NA NA 0.349186 0.069678 NA 0.181 NA 4.6989806 1182 1 110282972 110282972 G T UTR5 GSTM3 NM_000849:c.-63C>A NA NA ncRNA_UTR5 ENSG00000134202 NA NA NA NA NA 1p13.3 NA Name=Nrf1,TBP,HEY1,Max,Pol2(phosphoS2),SP1,Pol2,E2F6,Pol2-4H8,USF1_(SC-8983),HA-E2F1,E2F6_(H-50),TAF1 Name=137 NA rs1332018 0.72 0.72 0.723 0.741414 0.5507 0.8611 0.6556 0.8638 0.7096 0.58 0.85 0.63 0.85 0.6759 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.016229 2.016229 NA 0.574481 0.820809 NA 0.725 NA 4.698919 1182 6 32608969 32608969 A G intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9272683 0.27 0.27 0.134 0.299521 0.3012 0.253 0.379 0.3601 0.2076 0.26 0.21 0.34 0.32 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445165 NA NA NA NA NA 0.051 NA 4.6988 1182 15 76075649 76075649 G A intergenic MIR4313,UBE2Q2 dist=20993;dist=59973 NA NA ncRNA_exonic ENSG00000187812 NA NA NA Score=539;Name=lod=206 NA 15q24.2 NA NA NA NA rs34909574 0.24 0.24 0.171 0.230431 0.3012 0.2321 0.3559 0.0968 0.2474 0.32 0.2 0.32 0.1 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254128 NA NA NA NA NA 0.21 NA 4.6988 1182 9 134021630 134021630 A G exonic NUP214 NA synonymous SNV NUP214:NM_005085:exon13:c.A1884G:p.T628T exonic ENSG00000126883 NA synonymous SNV ENSG00000126883:ENST00000359428:exon13:c.A1884G:p.T628T,ENSG00000126883:ENST00000411637:exon13:c.A1851G:p.T617T,ENSG00000126883:ENST00000451030:exon13:c.A1884G:p.T628T NA NA 9q34.13 NA NA NA NA rs2296710 0.33 0.33 0.331 0.346446 0.3191 0.4276 0.2277 0.2821 0.4622 0.32 0.43 0.24 0.28 0.3309 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799532 NA NA 0.318023 0.271221 ID=COSM150730;OCCURENCE=1(stomach) 0.406 NA 4.6986436 1182 20 60927412 60927412 G A exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon4:c.C573T:p.S191S exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon4:c.C573T:p.S191S,ENSG00000130702:ENST00000370677:exon4:c.C573T:p.S191S,ENSG00000130702:ENST00000370692:exon4:c.C573T:p.S191S Score=503;Name=lod=148 NA 20q13.33 NA NA NA NA rs624313 0.57 0.57 0.523 0.51897 0.6581 0.7341 0.6369 0.1036 0.6319 0.67 0.77 0.61 0.16 0.636 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021947 NA NA 0.674161 0.206378 ID=COSM444176;OCCURENCE=1(breast),1(large_intestine) 0.42 NA 4.6984056 1182 4 190903938 190903938 C T intergenic FRG1,LOC100288255 dist=19579;dist=41585 NA NA ncRNA_exonic ENSG00000251297 NA NA NA Score=847;Name=lod=3675 NA 4q35.2 NA NA NA NA rs2898750 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA 0.3017 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168173 NA 0.19 NA NA NA 0.138 NA 4.6983 1182 7 1012948 1012948 A T intronic COX19 NA NA NA intronic ENSG00000240230 NA NA NA NA NA 7p22.3 NA NA Name=2 NA rs56242247 0.14 0.14 0.157 0.166733 0.0795 0.004 0.0778 0.4281 0.1339 0.08 0.0017 0.08 0.41 0.1255 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784432 NA NA 0.097044 0.378974 NA 0.21 NA 4.697956 1182 1 65543255 65543255 A G intergenic MIR101-1,AK4 dist=19064;dist=69977 NA NA ncRNA_exonic ENSG00000235804 NA NA NA Score=644;Name=lod=551 NA 1p31.3 NA NA NA NA rs11208580 0.56 0.56 0.555 0.578874 0.3022 0.6865 0.5058 0.9009 0.3691 0.29 0.68 0.49 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16657 NA NA NA NA NA 0.601 NA 4.6978 1182 2 38044830 38044830 C G intergenic CDC42EP3,RMDN2 dist=145152;dist=107632 NA NA ncRNA_exonic ENSG00000225402 NA NA NA Score=692;Name=lod=865 NA 2p22.2 NA NA NA NA rs4670218 0.34 0.34 0.326 0.334065 0.3022 0.3115 0.3372 0.3986 0.3006 0.3 0.34 0.31 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076559 NA NA NA NA NA 0.283 NA 4.6978 1182 3 130546697 130546697 A G intergenic PIK3R4,ATP2C1 dist=81001;dist=22672 NA NA ncRNA_exonic ENSG00000232829 NA NA NA Score=629;Name=lod=481 NA 3q22.1 NA NA NA NA rs12493504 0.25 0.25 0.242 0.24361 0.3022 0.3046 0.2608 0.112 0.2863 0.31 0.31 0.25 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620571 NA NA NA NA NA 0.225 NA 4.6978 1182 4 109340680 109340680 C T intergenic LEF1-AS1,RPL34-AS1 dist=243094;dist=118666 NA NA ncRNA_exonic ENSG00000250485 NA NA NA Score=762;Name=lod=1672 NA 4q25 NA NA NA NA rs219481 0.33 0.33 0.266 0.316294 0.3022 0.5278 0.4914 0.0499 0.3487 0.31 0.53 0.45 0.06 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.905849 1.905849 NA NA NA NA 0.145 NA 4.6978 1182 6 132840197 132840197 T A intergenic STX7,TAAR9 dist=5860;dist=19230 NA NA ncRNA_exonic ENSG00000225343 NA NA NA Score=696;Name=lod=895 NA 6q23.2 NA NA NA NA rs2840840 0.22 0.22 0.186 0.211661 0.3022 0.131 0.3401 0.1536 0.1892 0.29 0.13 0.36 0.11 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17261 NA NA NA NA NA NA NA 4.6978 1182 9 98175644 98175644 T G intergenic FANCC,PTCH1 dist=95653;dist=29620 NA NA ncRNA_exonic ENSG00000213761 NA NA NA Score=278;Name=lod=18 NA 9q22.32 NA NA NA NA rs17295814 0.14 0.14 0.129 0.11861 0.3022 0.0397 0.1354 0.0129 0.1421 0.3 0.03 0.15 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965656 NA NA NA NA NA 0.159 NA 4.6978 1182 10 13199611 13199611 C T intergenic OPTN,MCM10 dist=19335;dist=3943 NA NA ncRNA_exonic ENSG00000203414 NA NA NA Score=793;Name=lod=2221 NA 10p13 NA NA NA NA rs7899305 0.32 0.32 0.264 0.311302 0.3022 0.3502 0.4597 0.2708 0.2301 0.29 0.32 0.45 0.28 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048786 NA NA NA NA NA 0.145 NA 4.6978 1182 10 52070902 52070902 G C intronic SGMS1 NA NA NA intronic ENSG00000198964 NA NA NA NA NA 10q11.23 NA Name=eGFP-GATA2,CTCF NA NA rs7913957 0.22 0.22 0.186 0.170327 0.3022 0.1121 0.2536 0.0908 0.1431 0.31 0.14 0.29 0.1 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413098 NA NA NA NA NA 0.196 NA 4.6978 1182 10 77029174 77029174 A G intergenic COMTD1,ZNF503-AS1 dist=33404;dist=26967 NA NA ncRNA_exonic ENSG00000227271 NA NA NA Score=573;Name=lod=283 NA 10q22.2 NA NA NA NA rs10509357 0.35 0.35 0.377 0.397364 0.3022 0.2133 0.2637 0.6475 0.4417 0.28 0.2 0.27 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.079943 2.079943 NA NA NA NA 0.406 NA 4.6978 1182 15 76183191 76183191 T A intronic UBE2Q2 NA NA NA intronic ENSG00000140367 NA NA NA NA NA 15q24.2 NA NA Name=21 NA rs62028936 0.2 0.2 0.176 0.180312 0.3022 0.2331 0.1628 0.0469 0.1933 0.32 0.19 0.16 0.05 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.249858 2.249858 NA NA NA ID=COSN164998;OCCURENCE=1(NS) 0.232 NA 4.6978 1182 17 1686563 1686563 C T intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA Name=20 NA rs11078639 0.29 0.29 0.254 0.294529 0.3022 0.4008 0.3487 0.1135 0.3834 0.32 0.38 0.3 0.13 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72966 NA NA NA NA NA 0.225 NA 4.6978 1182 10 20436838 20436838 G C intronic PLXDC2 NA NA NA intronic ENSG00000120594 NA NA NA Score=567;Name=lod=268 NA 10p12.31 NA NA Name=5 NA rs4626974 0.22 0.22 0.191 0.16873 0.4881 0.001 0.2752 0.0242 0.1329 0.46 NA 0.3 0.04 0.3355 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915509 NA NA 0.478953 0.100999 NA 0.355 NA 4.697447 1182 9 130984755 130984755 C T exonic DNM1 NA unknown UNKNOWN exonic ENSG00000106976 NA synonymous SNV ENSG00000106976:ENST00000341179:exon8:c.C1008T:p.F336F,ENSG00000106976:ENST00000372923:exon8:c.C1008T:p.F336F,ENSG00000106976:ENST00000393594:exon8:c.C1008T:p.F336F,ENSG00000106976:ENST00000475805:exon8:c.C1008T:p.F336F,ENSG00000106976:ENST00000486160:exon8:c.C1008T:p.F336F Score=528;Name=lod=187 NA 9q34.11 NA NA NA NA rs3003609 0.47 0.47 0.434 0.454673 0.5616 0.6121 0.6326 0.056 0.5951 0.56 0.6 0.59 0.08 0.5325 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102829 NA NA 0.542093 0.13527 NA 0.442 NA 4.6971403 1182 3 149050925 149050925 T C intronic TM4SF18 NA NA NA ncRNA_intronic ENSG00000244468 NA NA NA NA NA 3q25.1 NA NA Name=49 NA rs1526786 0.58 0.58 0.54 0.566094 0.6362 0.4881 0.7061 0.4334 0.6544 0.63 0.51 0.73 0.45 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092902 NA NA NA NA NA 0.616 NA 4.6971333 1182 13 94047500 94047500 C T intronic GPC6 NA NA NA ncRNA_exonic ENSG00000235784 NA NA NA Score=676;Name=lod=745 NA 13q31.3 NA NA NA NA rs2762114 0.37 0.37 0.339 0.350839 0.6362 0.0665 0.4107 0.2421 0.455 0.65 0.06 0.46 0.25 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008882 NA NA NA NA NA 0.471 NA 4.6971333 1182 2 89278489 89278489 A C intergenic MIR4436A,NONE dist=166521;dist=NONE NA NA exonic ENSG00000243063 NA synonymous SNV ENSG00000243063:ENST00000390247:exon1:c.T15G:p.A5A Score=371;Name=lod=43 NA 2p11.2 NA NA NA NA rs6712880 0.31 0.31 0.336 0.399561 0.2455 0.4087 0.3559 0.5696 0.3497 0.17 0.39 0.28 0.45 0.3068 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136381 NA NA 0.250672 0.479792 ID=COSN395707,COSN166172;OCCURENCE=1(breast),1(lung) 0.065 NA 4.697028 1182 2 30748373 30748373 T G intronic LCLAT1 NA NA NA intronic ENSG00000172954 NA NA NA NA NA 2p23.1 Score=812;Name=V$CDP_02 NA NA NA rs13429099 0.18 0.18 0.174 0.154752 0.3032 0.0079 0.196 0.1679 0.1063 0.29 0.01 0.23 0.17 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256424 NA NA NA NA NA 0.145 NA 4.6968 1182 7 129950879 129950879 G A intronic CPA4 NA NA NA intronic ENSG00000128510 NA NA NA NA NA 7q32.2 NA Name=CTCF NA NA rs901800 0.28 0.28 0.265 0.273562 0.3032 0.3611 0.2493 0.152 0.3344 0.29 0.38 0.27 0.17 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025675 NA NA NA NA NA 0.312 NA 4.6968 1182 15 76075943 76075943 C A intergenic MIR4313,UBE2Q2 dist=21287;dist=59679 NA NA ncRNA_intronic ENSG00000187812 NA NA NA Score=444;Name=lod=85 NA 15q24.2 NA NA NA NA rs11852472 0.25 0.25 0.187 0.246206 0.3032 0.2321 0.3617 0.1452 0.2566 0.32 0.2 0.33 0.14 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013805 NA NA NA NA ID=COSN164997;OCCURENCE=1(NS) 0.283 NA 4.6968 1182 7 75659815 75659815 T C exonic STYXL1 NA synonymous SNV STYXL1:NM_016086:exon2:c.A27G:p.P9P exonic ENSG00000127952 NA synonymous SNV ENSG00000127952:ENST00000248600:exon2:c.A27G:p.P9P,ENSG00000127952:ENST00000340062:exon2:c.A27G:p.P9P,ENSG00000127952:ENST00000359697:exon2:c.A27G:p.P9P,ENSG00000127952:ENST00000360591:exon2:c.A27G:p.P9P,ENSG00000127952:ENST00000431581:exon2:c.A27G:p.P9P,ENSG00000127952:ENST00000451157:exon2:c.A27G:p.P9P Score=552;Name=lod=234 NA 7q11.23 NA NA NA NA rs1044483 0.48 0.48 0.446 0.465056 0.673 0.3929 0.5836 0.2337 0.5542 0.67 0.38 0.59 0.24 0.5993 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858071 NA NA 0.698023 0.322288 NA 0.399 NA 4.6963436 1182 17 55187558 55187558 C G intronic AKAP1 NA NA NA intronic ENSG00000121057 NA NA NA NA NA 17q22 NA Name=CTCF NA NA rs72828911 0.06 0.06 0.047 0.0593051 0.1143 0.005 0.0476 0.0575 0.0695 0.11 0.01 0.04 0.04 0.0881 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139989 NA NA 0.101512 0.061961 NA 0.174 NA 4.696088 1182 7 100877456 100877456 T C intronic CLDN15 NA NA NA intronic ENSG00000106404 NA NA NA NA NA 7q22.1 NA Name=NRSF,GABP,ETS1,TAF1,GATA-1,GATA2_(CG2-96),SRF,ZBTB7A_(SC-34508),Pol2-4H8,GATA-2,TAL1_(SC-12984),Pol2(b) NA NA rs2302428 0.32 0.32 0.332 0.365016 0.3042 0.1696 0.2637 0.5817 0.408 0.29 0.16 0.29 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008584 NA NA NA NA NA 0.449 NA 4.6958 1182 8 144408616 144408616 G A intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA Score=346;Name=lod=34 NA 8q24.3 NA NA NA NA rs3829019 0.28 0.28 0.305 0.289137 0.3042 0.0794 0.196 0.5514 0.2014 0.3 0.07 0.21 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919929 NA NA NA NA NA 0.333 NA 4.6958 1182 10 62539788 62539788 C G intronic CDK1 NA NA NA intronic ENSG00000170312 NA NA NA NA NA 10q21.2 NA NA Name=6 NA rs2260179 0.37 0.37 0.361 0.365415 0.3042 0.6141 0.415 0.2156 0.3395 0.29 0.59 0.39 0.24 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271395 NA NA NA NA NA 0.413 NA 4.6958 1182 22 19969696 19969696 C T intronic ARVCF NA NA NA intronic ENSG00000099889 NA NA NA NA NA 22q11.21 NA Name=ERalpha_a NA NA rs2240716 0.25 0.25 0.232 0.258187 0.3042 0.2183 0.281 0.1513 0.3804 0.32 0.22 0.27 0.14 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236451 NA NA NA NA NA 0.348 NA 4.6958 1182 21 47711229 47711229 A G intronic YBEY NA NA NA intronic ENSG00000182362 NA NA NA NA NA 21q22.3 NA Name=PU.1,FOXA2_(SC-6554) Name=11 NA rs2276257 0.37 0.37 0.322 0.357428 0.4245 0.3185 0.5 0.2663 0.3507 0.42 0.29 0.5 0.29 0.4241 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751448 NA NA 0.456163 0.304812 NA 0.239 NA 4.695237 1183 7 100776931 100776931 G A intronic SERPINE1 NA NA NA intronic ENSG00000106366 NA NA NA NA NA 7q22.1 NA Name=Pol2 Name=93 NA rs2227684 0.43 0.43 0.456 0.428514 0.4463 0.4554 0.2911 0.4879 0.3998 0.45 0.47 0.33 0.44 0.4195 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087305 NA NA 0.439302 0.490241 NA 0.507 NA 4.694898 1183 19 4512514 4512514 G C exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon3:c.C1416G:p.G472G exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon3:c.C1416G:p.G472G NA NA 19p13.3 NA NA NA NA rs7259625 0.31 0.31 0.339 0.358826 0.33 0.1032 0.2305 0.6657 0.3282 0.32 0.09 0.23 0.61 0.3206 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00155 NA NA 0.321222 0.58819 NA 0.268 NA 4.6948446 1183 3 36211343 36211343 G C intergenic ARPP21,STAC dist=375355;dist=210754 NA NA ncRNA_exonic ENSG00000236158 NA NA NA Score=688;Name=lod=835 NA 3p22.3 NA NA NA NA rs7623430 0.52 0.52 0.533 0.553115 0.3052 0.629 0.3718 0.9206 0.362 0.31 0.62 0.35 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03927 NA NA NA NA NA 0.42 NA 4.6948 1183 3 161043571 161043571 A G intergenic NMD3,SPTSSB dist=73776;dist=19009 NA NA ncRNA_exonic ENSG00000240138 NA NA NA Score=807;Name=lod=2543 NA 3q26.1 NA NA NA NA rs16832082 0.37 0.37 0.341 0.35643 0.3052 0.5308 0.3458 0.2708 0.3528 0.31 0.54 0.35 0.28 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091452 NA NA NA NA NA 0.225 NA 4.6948 1183 19 9193913 9193913 A G intergenic MUC16,OR1M1 dist=101895;dist=10008 NA NA ncRNA_exonic ENSG00000267154 NA NA NA Score=407;Name=lod=60 NA 19p13.2 NA NA NA NA rs2591615 0.26 0.26 0.224 0.284545 0.3052 0.1964 0.4236 0.2572 0.2924 0.28 0.16 0.41 0.22 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488021 NA NA NA NA NA 0.254 NA 4.6948 1183 22 41470522 41470522 G A intergenic RBX1,MIR1281 dist=101503;dist=17995 NA NA ncRNA_exonic ENSG00000213857 NA NA NA Score=867;Name=lod=4456 NA 22q13.2 NA NA NA NA rs8136923 0.24 0.24 0.171 0.250799 0.3052 0.0536 0.5346 0.1331 0.3558 0.31 0.06 0.52 0.13 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01974 NA NA NA NA NA 0.297 NA 4.6948 1183 19 11221457 11221457 G C intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA Name=Pol2-4H8,Pol2(b),Pol2 Name=3 NA rs12710260 0.28 0.28 0.221 0.276957 0.4592 0.1825 0.4683 0.031 0.3834 0.46 0.15 0.45 0.04 0.3849 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023697 NA NA 0.461395 0.096232 NA 0.297 NA 4.694505 1183 1 179558051 179558051 A G intergenic NPHS2,TDRD5 dist=12967;dist=2697 NA NA ncRNA_exonic ENSG00000227141 NA NA NA Score=579;Name=lod=302 NA 1q25.2 NA NA NA NA rs744446 0.3 0.3 0.232 0.284145 0.3062 0.379 0.3646 0.0832 0.3783 0.3 0.42 0.38 0.09 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125494 NA NA NA NA NA 0.304 NA 4.6938 1183 7 46037581 46037581 G C intergenic IGFBP3,TNS3 dist=76710;dist=1277171 NA NA ncRNA_exonic ENSG00000233952 NA NA NA Score=578;Name=lod=297 NA 7p12.3 NA NA NA NA rs885062 0.25 0.25 0.236 0.267971 0.3062 0.1726 0.2363 0.2648 0.3538 0.3 0.18 0.26 0.25 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794178 NA NA NA NA NA 0.304 NA 4.6938 1183 10 13199089 13199089 G A intergenic OPTN,MCM10 dist=18813;dist=4465 NA NA ncRNA_exonic ENSG00000203414 NA NA NA Score=793;Name=lod=2221 NA 10p13 NA NA NA NA rs11258224 0.35 0.35 0.326 0.381989 0.3062 0.3839 0.5043 0.4539 0.274 0.28 0.33 0.45 0.42 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134552 NA NA NA NA NA 0.232 NA 4.6938 1183 14 77639946 77639946 G C intergenic ZDHHC22,TMEM63C dist=31812;dist=8156 NA NA ncRNA_exonic ENSG00000258552 NA NA NA Score=309;Name=lod=24 NA 14q24.3 NA NA NA NA rs72725310 0.22 0.22 0.17 0.189297 0.3062 0.1111 0.3977 0.0598 0.1769 0.3 0.13 0.38 0.08 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178176 NA NA NA NA NA 0.159 NA 4.6938 1183 17 21544599 21544599 A G intergenic C17orf51,FAM27L dist=89658;dist=280771 NA NA ncRNA_exonic ENSG00000265019 NA NA NA Score=626;Name=lod=468 NA 17p11.2 NA NA NA NA rs9912297 NA NA 0.162 0.248802 0.3062 0.3125 0.2824 0.1362 0.2526 NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112904 NA NA NA NA NA 0.058 NA 4.6938 1183 19 312020 312020 A G intronic MIER2 NA NA NA intronic ENSG00000105556 NA NA NA NA NA 19p13.3 NA NA Name=9 NA rs8104600 0.32 0.32 0.159 0.420327 0.3062 0.6716 0.3862 0.2413 0.545 0.25 0.59 0.3 0.12 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119276 NA NA NA NA NA NA NA 4.6938 1183 2 113306827 113306827 A G intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs62158585 0.2 0.2 0.175 0.210064 0.0865 0.3046 0.2277 0.261 0.1585 0.09 0.31 0.19 0.25 0.1367 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975621 NA NA 0.083837 0.238538 ID=COSN166255;OCCURENCE=1(breast) 0.203 NA 4.692963 1183 22 47057191 47057191 C T intronic GRAMD4 NA NA NA intronic ENSG00000075240 NA NA NA NA NA 22q13.31 NA NA Name=4 NA rs2076707 0.33 0.33 0.324 0.292332 0.3072 0.3998 0.3573 0.2398 0.1912 0.29 0.4 0.38 0.25 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740025 NA NA NA NA NA 0.29 NA 4.6928 1183 1 228433217 228433217 A G exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon12:c.A3585G:p.T1195T,ENSG00000154358:ENST00000422127:exon12:c.A3585G:p.T1195T,ENSG00000154358:ENST00000570156:exon13:c.A3861G:p.T1287T NA NA 1q42.13 Score=814;Name=V$HTF_01 NA NA NA rs2487384 0.62 0.62 0.582 0.616613 0.6412 0.5992 0.6542 0.7095 0.4571 0.63 0.59 0.64 0.64 0.6502 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980183 NA NA 0.682523 0.731473 NA 0.609 NA 4.6927436 1183 1 205238530 205238530 C T exonic TMCC2 NA synonymous SNV TMCC2:NM_001242925:exon3:c.C966T:p.G322G,TMCC2:NM_014858:exon3:c.C1200T:p.G400G exonic ENSG00000133069 NA synonymous SNV ENSG00000133069:ENST00000329800:exon2:c.C480T:p.G160G,ENSG00000133069:ENST00000330675:exon2:c.C525T:p.G175G,ENSG00000133069:ENST00000358024:exon3:c.C1200T:p.G400G,ENSG00000133069:ENST00000367159:exon3:c.C612T:p.G204G,ENSG00000133069:ENST00000545499:exon3:c.C966T:p.G322G NA NA 1q32.1 NA NA NA NA rs1779411 0.18 0.18 0.179 0.125799 0.3549 0.0377 0.1816 0.0287 0.0726 0.36 0.03 0.23 0.03 0.2671 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403851 NA NA 0.352688 0.074807 NA 0.319 NA 4.6919786 1183 1 144915624 144915624 G A exonic PDE4DIP NA synonymous SNV PDE4DIP:NM_001002811:exon10:c.C2290T:p.L764L,PDE4DIP:NM_001002812:exon14:c.C1801T:p.L601L,PDE4DIP:NM_001198834:exon14:c.C1801T:p.L601L,PDE4DIP:NM_014644:exon14:c.C1801T:p.L601L,PDE4DIP:NM_001198832:exon17:c.C1999T:p.L667L exonic ENSG00000178104 NA synonymous SNV ENSG00000178104:ENST00000313431:exon10:c.C2290T:p.L764L,ENSG00000178104:ENST00000479408:exon10:c.C1162T:p.L388L,ENSG00000178104:ENST00000529945:exon10:c.C2290T:p.L764L,ENSG00000178104:ENST00000369349:exon14:c.C1801T:p.L601L,ENSG00000178104:ENST00000369351:exon14:c.C1801T:p.L601L,ENSG00000178104:ENST00000369354:exon14:c.C1801T:p.L601L,ENSG00000178104:ENST00000369356:exon14:c.C1801T:p.L601L,ENSG00000178104:ENST00000313382:exon17:c.C1999T:p.L667L,ENSG00000178104:ENST00000369359:exon17:c.C2212T:p.L738L,ENSG00000178104:ENST00000530740:exon17:c.C2212T:p.L738L NA NA 1q21.1 NA NA NA NA rs1778112 0.37 0.37 0.386 0.457268 0.4761 0.3621 0.4625 0.5 0.4744 0.4 0.28 0.42 0.38 0.4987 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766182 NA NA NA NA NA 0.362 NA 4.6918666 1183 6 141243814 141243814 T A intergenic MIR4465,NMBR dist=238794;dist=1152931 NA NA ncRNA_exonic ENSG00000216548 NA NA NA Score=717;Name=lod=1089 NA 6q24.1 NA NA NA NA rs9495864 0.26 0.26 0.227 0.236821 0.3082 0.2927 0.3228 0.0673 0.274 0.3 0.28 0.36 0.09 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26461 NA NA NA NA NA 0.152 NA 4.6918 1183 11 123880581 123880581 T C intergenic OR10S1,OR10G4 dist=32183;dist=5701 NA NA ncRNA_exonic ENSG00000226461 NA NA NA Score=361;Name=lod=39 NA 11q24.1 NA NA NA NA rs17760637 0.26 0.26 0.232 0.257188 0.3082 0.3651 0.3156 0.0734 0.3006 0.32 0.35 0.26 0.08 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.511238 NA 1 NA NA NA 0.304 NA 4.6918 1183 2 33952621 33952621 G A ncRNA_exonic MYADML NA NA NA ncRNA_exonic ENSG00000239649 NA NA NA Score=317;Name=lod=26 NA 2p22.3 NA NA NA NA rs11684598 0.44 0.44 0.413 0.444888 0.4761 0.4425 0.5951 0.3366 0.455 0.47 0.49 0.57 0.25 0.499 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271999 NA NA NA NA NA 0.377 NA 4.6915666 1183 16 58757668 58757668 A C exonic GOT2 NA synonymous SNV GOT2:NM_002080:exon2:c.T228G:p.V76V exonic ENSG00000125166 NA synonymous SNV ENSG00000125166:ENST00000245206:exon2:c.T228G:p.V76V,ENSG00000125166:ENST00000434819:exon2:c.T228G:p.V76V Score=704;Name=lod=964 NA 16q21 NA NA NA NA rs14221 0.7 0.7 0.691 0.708267 0.662 0.6339 0.7608 0.8676 0.5798 0.64 0.62 0.75 0.86 0.6643 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.176539 NA NA 0.648953 0.825978 NA 0.804 NA 4.6914136 1183 1 211032696 211032696 C G intronic KCNH1 NA NA NA ncRNA_exonic ENSG00000224668 NA NA NA Score=696;Name=lod=895 NA 1q32.2 NA NA NA NA rs4951669 0.61 0.61 0.604 0.601038 0.6421 0.3849 0.5965 0.8472 0.4519 0.64 0.4 0.57 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501233 NA NA NA NA NA 0.572 NA 4.6912333 1183 11 7805861 7805861 A C intergenic OVCH2,OR5P2 dist=77920;dist=11660 NA NA ncRNA_exonic ENSG00000241008 NA NA NA Score=784;Name=lod=2047 NA 11p15.4 NA NA NA NA rs11601933 0.34 0.34 0.339 0.329273 0.3091 0.2262 0.3329 0.5197 0.1963 0.32 0.24 0.33 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045379 NA NA NA NA NA 0.362 NA 4.6909 1183 13 95410745 95410745 C G intergenic SOX21,ABCC4 dist=46356;dist=261338 NA NA ncRNA_exonic ENSG00000235768 NA NA NA Score=329;Name=lod=29 NA 13q32.1 NA NA NA NA rs12868463 0.35 0.35 0.346 0.382588 0.3091 0.378 0.3069 0.3805 0.5194 0.32 0.39 0.29 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472197 NA NA NA NA NA 0.304 NA 4.6909 1183 19 49621355 49621355 C A intronic LIN7B NA NA NA intronic ENSG00000104863 NA NA NA NA NA 19q13.33 Score=751;Name=V$PPARA_01 NA NA NA rs1009214 0.23 0.23 0.237 0.254593 0.3091 0.0536 0.1758 0.3585 0.3211 0.31 0.05 0.2 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296892 NA NA NA NA NA 0.217 NA 4.6909 1183 5 112850963 112850963 G A intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA Name=2 NA rs1035409 0.09 0.09 0.076 0.0852636 0.1054 0.0298 0.036 0.1536 0.0644 0.11 0.04 0.03 0.14 0.0984 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501091 NA NA 0.10549 0.128974 NA 0.174 NA 4.69071 1183 2 8178735 8178735 A G ncRNA_intronic LINC00299 NA NA NA ncRNA_intronic ENSG00000235665,ENSG00000236790 NA NA NA Score=289;Name=lod=20 NA 2p25.1 Score=892;Name=V$PAX4_02 NA NA NA rs1364054 0.5 0.5 0.477 0.488219 0.674 0.3323 0.7349 0.3366 0.4877 0.66 0.28 0.73 0.34 0.609 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203631 NA NA 0.693119 0.354452 NA 0.514 NA 4.6905476 1183 19 7570978 7570978 T C exonic C19orf45 NA synonymous SNV C19orf45:NM_198534:exon7:c.T1134C:p.P378P exonic ENSG00000198723 NA synonymous SNV ENSG00000198723:ENST00000361664:exon7:c.T1134C:p.P378P NA NA 19p13.2 NA Name=NF-E2,IRF1,USF-1,c-Myc,AP-2gamma,HEY1,Sin3Ak-20,Pol2-4H8,Egr-1,Max,USF1_(SC-8983),Pol2,Mxi1_(bHLH),ATF3,USF2,E2F6_(H-50) NA NA rs685034 0.64 0.64 0.665 0.636781 0.6889 0.4544 0.5692 0.7859 0.6176 0.7 0.45 0.62 0.79 0.6261 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483955 NA NA 0.661279 0.743759 NA 0.696 NA 4.6903876 1183 4 83050748 83050748 G A intergenic RASGEF1B,HNRNPD dist=657687;dist=223719 NA NA ncRNA_exonic ENSG00000250826 NA NA NA Score=675;Name=lod=735 NA 4q21.22 NA NA NA NA rs7657850 0.25 0.25 0.236 0.253395 0.3101 0.1905 0.2421 0.211 0.3252 0.31 0.19 0.27 0.21 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192537 NA NA NA NA NA 0.246 NA 4.6899 1183 16 8990680 8990680 C A intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA Name=3 NA rs2257181 0.29 0.29 0.259 0.285343 0.3101 0.2569 0.3357 0.1997 0.3691 0.33 0.26 0.39 0.19 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448329 NA NA NA NA NA 0.304 NA 4.6899 1183 9 115931703 115931703 G A exonic FKBP15 NA synonymous SNV FKBP15:NM_015258:exon26:c.C3286T:p.L1096L exonic ENSG00000119321 NA synonymous SNV ENSG00000119321:ENST00000238256:exon26:c.C3286T:p.L1096L,ENSG00000119321:ENST00000446284:exon26:c.C3361T:p.L1121L NA NA 9q32 NA NA NA NA rs3810910 0.29 0.29 0.298 0.283546 0.3489 0.1617 0.2954 0.3351 0.2638 0.35 0.18 0.3 0.32 0.3015 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.246716 NA NA 0.326649 0.302266 NA 0.29 NA 4.6896176 1183 11 67400622 67400622 G A intronic TBX10 NA NA NA intronic ENSG00000167800 NA NA NA NA NA 11q13.2 NA NA Name=2 NA rs61894500 0.11 0.11 0.102 0.129593 0.0954 0.0704 0.0908 0.2141 0.1391 0.09 0.08 0.09 0.19 0.1104 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043989 NA NA 0.10503 0.169091 NA 0.101 NA 4.68917 1183 6 29771111 29771111 C T intergenic LOC554223,HLA-G dist=5527;dist=23645 NA NA ncRNA_exonic ENSG00000213880 NA NA NA Score=789;Name=lod=2148 NA 6p22.1 NA NA NA NA rs1610716 0.36 0.36 0.377 0.384585 0.3111 0.1954 0.3703 0.5991 0.3753 0.31 0.24 0.36 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303242 NA NA NA NA NA 0.355 NA 4.6889 1183 17 16830149 16830149 T C intergenic KRT16P2,TNFRSF13B dist=94002;dist=12249 NA NA ncRNA_intronic ENSG00000128438 NA NA NA NA NA 17p11.2 NA NA Name=21 NA rs11078354 0.36 0.36 0.34 0.360623 0.3111 0.4514 0.3242 0.379 0.319 0.3 0.44 0.35 0.38 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490158 NA NA NA NA NA 0.333 NA 4.6889 1183 6 32188603 32188603 C T exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon5:c.G852A:p.Q284Q exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon5:c.G852A:p.Q284Q NA NA 6p21.32 NA NA NA NA rs520803 0.27 0.27 0.263 0.267772 0.3519 0.1935 0.2594 0.208 0.3446 0.34 0.19 0.3 0.22 0.306 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074961 NA NA 0.320116 0.213799 NA 0.348 NA 4.6886506 1183 2 212522651 212522651 A G intronic ERBB4 NA NA NA intronic ENSG00000178568 NA NA NA Score=625;Name=lod=462 NA 2q34 NA NA NA NA rs34621071 0.1 0.1 0.082 0.105032 0.1024 0.0962 0.183 0.0635 0.1176 0.1 0.08 0.19 0.06 0.1107 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.782696 4.782696 NA 0.098694 0.085616 NA 0.087 NA 4.688206 1183 11 75298797 75298797 A G exonic MAP6 NA synonymous SNV MAP6:NM_033063:exon4:c.T1749C:p.D583D exonic ENSG00000171533 NA synonymous SNV ENSG00000171533:ENST00000304771:exon4:c.T1749C:p.D583D,ENSG00000171533:ENST00000526740:exon4:c.T762C:p.D254D NA NA 11q13.5 NA NA NA NA rs1231128 0.34 0.34 0.297 0.376198 0.3161 0.2579 0.5648 0.3041 0.5235 0.32 0.27 0.5 0.34 0.3568 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060936 NA NA 0.30573 0.286818 NA 0.326 NA 4.6880366 1183 2 210043728 210043728 T C intergenic PTH2R,MAP2 dist=684497;dist=245043 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=389;Name=lod=51 NA 2q34 NA NA NA NA rs17738719 0.23 0.23 0.214 0.246206 0.3121 0.0496 0.3228 0.2481 0.3241 0.32 0.06 0.33 0.24 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17316 NA NA NA NA NA 0.377 NA 4.6879 1183 2 210045334 210045334 T C intergenic PTH2R,MAP2 dist=686103;dist=243437 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=689;Name=lod=839 NA 2q34 NA NA NA NA rs6715032 0.23 0.23 0.206 0.246206 0.3121 0.0496 0.3228 0.2481 0.3241 0.32 0.06 0.33 0.24 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436261 NA NA NA NA NA 0.37 NA 4.6879 1183 3 107047161 107047161 A C intergenic LOC344595,CCDC54 dist=1350;dist=49027 NA NA ncRNA_exonic ENSG00000241218 NA NA NA Score=831;Name=lod=3189 NA 3q13.12 NA NA NA NA rs7639744 0.54 0.54 0.526 0.596645 0.3121 0.8264 0.5576 0.59 0.6892 0.34 0.82 0.47 0.58 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031713 NA NA NA NA NA 0.435 NA 4.6879 1183 10 52070947 52070947 T C intronic SGMS1 NA NA NA intronic ENSG00000198964 NA NA NA NA NA 10q11.23 NA Name=eGFP-GATA2,CTCF NA NA rs2251601 0.31 0.31 0.301 0.322085 0.3121 0.4792 0.3055 0.1868 0.365 0.32 0.43 0.32 0.17 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01648 NA NA NA NA NA 0.21 NA 4.6879 1183 15 89503727 89503727 A G intergenic MFGE8,ABHD2 dist=47064;dist=127654 NA NA ncRNA_exonic ENSG00000259489 NA NA NA Score=575;Name=lod=289 NA 15q26.1 NA NA NA NA rs12593652 0.33 0.33 0.303 0.303514 0.3121 0.4276 0.4524 0.1785 0.2301 0.32 0.41 0.42 0.19 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.455089 1.455089 0.16 NA NA NA 0.275 NA 4.6879 1183 22 25119284 25119284 G A intronic PIWIL3 NA NA NA intronic ENSG00000184571 NA NA NA NA NA 22q11.23 NA NA Name=10 NA rs131472 0.29 0.29 0.247 0.289936 0.3121 0.1617 0.4957 0.3124 0.2229 0.31 0.17 0.45 0.29 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495129 NA NA NA NA NA 0.254 NA 4.6879 1183 22 25119300 25119300 T C intronic PIWIL3 NA NA NA intronic ENSG00000184571 NA NA NA NA NA 22q11.23 NA NA Name=10 NA rs140345 0.3 0.3 0.248 0.305112 0.3121 0.1776 0.4971 0.3238 0.2679 0.31 0.18 0.45 0.3 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498443 NA NA NA NA NA 0.254 NA 4.6879 1183 20 34560526 34560526 G A intronic CNBD2 NA NA NA intronic ENSG00000149646 NA NA NA NA NA 20q11.23 NA NA Name=35 NA rs11167280 0.09 0.09 0.073 0.107628 0.1014 0.0942 0.1167 0.0703 0.1718 0.1 0.08 0.13 0.06 0.1064 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.020737 2.020737 NA 0.105 0.072855 NA 0.08 NA 4.6872 1183 1 40035686 40035686 C T intronic PABPC4 NA NA NA ncRNA_intronic ENSG00000228060 NA NA NA Score=278;Name=lod=18 NA 1p34.3 NA NA NA NA rs17513135 0.14 0.14 0.129 0.0946486 0.2386 0.1012 0.1066 0.0106 0.045 0.23 0.11 0.14 0.02 0.1713 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.521103 1.521103 NA 0.236512 0.046754 NA 0.094 NA 4.6869213 1183 1 27503545 27503545 C T intergenic SLC9A1,WDTC1 dist=21924;dist=57462 NA NA ncRNA_exonic ENSG00000229985 NA NA NA Score=747;Name=lod=1452 NA 1p36.11 NA NA NA NA rs12752935 0.22 0.22 0.198 0.230631 0.3131 0.1151 0.1801 0.2065 0.3333 0.34 0.1 0.21 0.2 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071266 NA NA NA NA NA 0.196 NA 4.6869 1183 4 139482765 139482765 C T intergenic LINC00499,CCRN4L dist=137267;dist=454178 NA NA ncRNA_exonic ENSG00000248795 NA NA NA Score=701;Name=lod=943 NA 4q28.3 NA NA NA NA rs72718527 0.22 0.22 0.212 0.198083 0.3131 0.0694 0.2046 0.2572 0.1278 0.31 0.06 0.22 0.26 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465889 NA NA NA NA NA 0.196 NA 4.6869 1183 22 37528576 37528576 A G intronic IL2RB NA NA NA intronic ENSG00000100385 NA NA NA NA NA 22q12.3 NA Name=NRSF NA NA rs3218318 0.36 0.36 0.384 0.372604 0.3131 0.5585 0.2233 0.298 0.4489 0.3 0.58 0.22 0.32 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176909 NA NA NA NA NA 0.478 NA 4.6869 1183 22 50307184 50307184 G T intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs11705497 0.08 0.08 0.076 0.0702875 0.1163 0.0546 0.0807 0.0136 0.1084 0.13 0.06 0.09 0.02 0.0935 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.914425 1.914425 NA 0.103721 0.031775 NA 0.174 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082162.1;CLNDSDB=.;CLNDSDBID=. 4.686479 1183 1 27503662 27503662 T A intergenic SLC9A1,WDTC1 dist=22041;dist=57345 NA NA ncRNA_exonic ENSG00000229985 NA NA NA Score=747;Name=lod=1452 NA 1p36.11 NA NA NA NA rs12119525 0.24 0.24 0.25 0.263379 0.3141 0.1151 0.196 0.3207 0.3344 0.34 0.1 0.22 0.29 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.17968 NA NA NA NA NA 0.239 NA 4.6859 1183 5 25910566 25910566 A G intergenic LOC340107,CDH9 dist=1069874;dist=970143 NA NA ncRNA_exonic ENSG00000251593 NA NA NA Score=749;Name=lod=1469 NA 5p14.1 NA NA NA NA rs12655221 0.27 0.27 0.262 0.276158 0.3141 0.3522 0.2291 0.1271 0.3937 0.3 0.36 0.28 0.12 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943785 NA NA NA NA NA 0.239 NA 4.6859 1183 4 2175791 2175791 T C intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 Score=805;Name=V$POU3F2_01 NA NA NA rs2022343 0.25 0.25 0.028 0.296725 0.1213 0.3502 0.2392 0.5045 0.182 0.1 0.33 0.24 0.42 0.1896 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430562 NA NA 0.00407 0.107581 NA NA NA 4.68503 1184 12 4430561 4430561 C G intronic C12orf5 NA NA NA intronic ENSG00000078237 NA NA NA NA NA 12p13.32 NA Name=TBP,AP-2gamma,NFKB,Pol2-4H8,ELK4,AP-2alpha,Oct-2,Pol2,POU2F2,GATA-1 NA NA rs11063080 0.3 0.3 0.263 0.289936 0.3151 0.249 0.3703 0.3048 0.229 0.32 0.22 0.36 0.34 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898212 NA NA NA NA NA 0.167 NA 4.6849 1184 4 2175792 2175792 C G intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 Score=805;Name=V$POU3F2_01 NA NA NA rs61383215 0.25 0.25 0.03 0.296326 0.1213 0.3502 0.2392 0.5038 0.181 0.1 0.33 0.24 0.42 0.1896 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127281 NA NA 0.004419 0.113255 NA NA NA 4.684681 1184 13 103418728 103418728 A G UTR3 TEX30 NM_138779:c.*23T>C NA NA UTR3 ENSG00000151287 ENST00000376027:c.*159T>C,ENST00000376029:c.*159T>C,ENST00000376032:c.*23T>C,ENST00000376021:c.*23T>C,ENST00000376022:c.*159T>C,ENST00000376019:c.*23T>C NA NA Score=313;Name=lod=25 NA 13q33.1 NA NA NA NA rs8054 0.35 0.35 0.347 0.334465 0.175 0.501 0.255 0.4955 0.1656 0.17 0.55 0.25 0.46 0.2633 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406049 NA NA 0.210465 0.46709 NA 0.355 NA 4.6845684 1184 10 129870510 129870510 A G intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA NA Name=7 NA rs41282874 0.14 0.14 0.142 0.130791 0.1074 0.1538 0.0735 0.2352 0.0307 0.11 0.14 0.07 0.25 0.1028 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343147 NA NA 0.105233 0.196323 NA 0.116 NA 4.684567 1184 6 32188642 32188642 T C exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon5:c.A813G:p.P271P exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon5:c.A813G:p.P271P NA NA 6p21.32 NA NA NA NA rs520688 0.28 0.28 0.27 0.280152 0.3519 0.2421 0.2594 0.2095 0.3558 0.34 0.24 0.3 0.22 0.3109 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.808315 NA NA 0.319419 0.213118 NA 0.007 NA 4.6844476 1184 9 12708910 12708910 C G intronic TYRP1 NA NA NA ncRNA_intronic ENSG00000235448 NA NA NA NA NA 9p23 NA Name=c-Jun NA NA rs2733834 0.34 0.34 0.286 0.265575 0.6491 0.0109 0.402 0.1362 0.2117 0.65 0.01 0.44 0.17 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258429 NA NA NA NA NA 0.428 NA 4.6842333 1184 12 120888424 120888424 A G intronic GATC NA NA NA ncRNA_exonic ENSG00000219355 NA NA NA Score=652;Name=lod=594 NA 12q24.31 NA NA NA NA rs1179462 0.72 0.72 0.738 0.744609 0.6491 0.7391 0.6037 0.9554 0.6636 0.64 0.71 0.61 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004413 NA NA NA NA NA 0.754 NA 4.6842333 1184 10 27687994 27687994 A G exonic PTCHD3 NA synonymous SNV PTCHD3:NM_001034842:exon4:c.T1533C:p.S511S exonic ENSG00000182077 NA synonymous SNV ENSG00000182077:ENST00000438700:exon4:c.T1533C:p.S511S Score=463;Name=lod=102 NA 10p12.1 NA NA NA NA rs2484173 0.53 0.53 0.503 0.55012 0.6829 0.37 0.5202 0.5257 0.6534 0.68 0.31 0.56 0.54 0.6187 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.489572 NA NA 0.681047 0.534952 NA 0.551 NA 4.6840196 1184 3 128257214 128257214 G A intergenic LOC90246,C3orf27 dist=27785;dist=33629 NA NA ncRNA_exonic ENSG00000239405 NA NA NA Score=727;Name=lod=1200 NA 3q21.3 NA NA NA NA rs9854612 0.44 0.44 0.424 0.447883 0.3161 0.4524 0.4035 0.6846 0.2904 0.3 0.45 0.39 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.752928 NA NA NA NA NA 0.326 NA 4.6839 1184 7 39874281 39874281 T C intergenic LINC00265,CDK13 dist=40059;dist=115678 NA NA ncRNA_exonic ENSG00000233225 NA NA NA Score=659;Name=lod=634 NA 7p14.1 NA NA NA NA rs113205984 0.34 0.34 0.33 0.347843 0.3161 0.2907 0.304 0.4342 0.3538 0.32 0.3 0.33 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369447 NA NA NA NA NA 0.268 NA 4.6839 1184 11 88141635 88141635 C T intergenic CTSC,GRM5 dist=70694;dist=96109 NA NA ncRNA_exonic ENSG00000249489 NA NA NA Score=687;Name=lod=828 NA 11q14.2 NA NA NA NA rs11019742 0.2 0.2 0.212 0.173323 0.3161 0.0813 0.2565 0.1135 0.1431 0.3 0.09 0.27 0.12 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075811 NA NA NA NA NA 0.13 NA 4.6839 1184 11 88141958 88141958 C T intergenic CTSC,GRM5 dist=71017;dist=95786 NA NA ncRNA_exonic ENSG00000249489 NA NA NA Score=714;Name=lod=1064 NA 11q14.2 NA NA NA NA rs11019745 0.2 0.2 0.2 0.173722 0.3161 0.0813 0.2565 0.115 0.1431 0.3 0.09 0.27 0.12 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181135 NA NA NA NA NA 0.13 NA 4.6839 1184 20 1915226 1915226 G A intronic SIRPA NA NA NA intronic ENSG00000198053 NA NA NA NA NA 20p13 NA NA Name=72 NA rs2076554 0.24 0.24 0.221 0.258387 0.3161 0.1587 0.196 0.1702 0.4652 0.32 0.16 0.23 0.21 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755041 NA NA NA NA NA 0.239 NA 4.6839 1184 7 112375997 112375997 T C intergenic LSMEM1,TMEM168 dist=245054;dist=29790 NA NA ncRNA_exonic ENSG00000225358 NA NA NA Score=700;Name=lod=934 NA 7q31.1 NA NA NA NA rs1615468 0.37 0.37 0.41 0.409944 0.3171 0.0694 0.2954 0.8162 0.3885 0.32 0.06 0.32 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595544 NA NA NA NA NA 0.435 NA 4.6829 1184 11 18686916 18686916 C T intergenic SPTY2D1,TMEM86A dist=30896;dist=33435 NA NA ncRNA_exonic ENSG00000257043 NA NA NA Score=698;Name=lod=912 NA 11p15.1 NA NA NA NA rs9705036 0.19 0.19 0.177 0.16274 0.3171 0.1488 0.2075 0.0204 0.1789 0.31 0.14 0.24 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.342056 NA NA NA NA NA 0.174 NA 4.6829 1184 11 18687025 18687025 G A intergenic SPTY2D1,TMEM86A dist=31005;dist=33326 NA NA ncRNA_exonic ENSG00000257043 NA NA NA Score=554;Name=lod=238 NA 11p15.1 NA NA NA NA rs12787397 0.19 0.19 0.169 0.16274 0.3171 0.1488 0.2075 0.0204 0.1789 0.31 0.14 0.24 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92754 NA NA NA NA NA 0.174 NA 4.6829 1184 12 30879088 30879088 T C intronic CAPRIN2 NA NA NA intronic ENSG00000110888 NA NA NA NA NA 12p11.21 NA Name=GATA-2 NA NA rs10843822 0.27 0.27 0.255 0.257188 0.3171 0.2937 0.2075 0.1831 0.2935 0.31 0.3 0.23 0.19 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329567 NA NA NA NA NA 0.203 NA 4.6829 1184 20 34312658 34312658 A G intronic RBM39 NA NA NA intronic ENSG00000131051 NA NA NA NA NA 20q11.22 NA Name=Pol2,Pol2-4H8 NA NA rs11696947 0.09 0.09 0.079 0.109425 0.1014 0.0843 0.121 0.0983 0.1503 0.1 0.07 0.13 0.08 0.1082 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.279066 1.279066 NA 0.107558 0.100999 NA 0.087 NA 4.682842 1184 15 79851798 79851798 G A intergenic KIAA1024,MTHFS dist=87156;dist=284091 NA NA ncRNA_exonic ENSG00000259493 NA NA NA Score=794;Name=lod=2243 NA 15q25.1 NA NA NA NA rs1765253 0.39 0.39 0.43 0.439896 0.3181 0.3264 0.5072 0.5113 0.5378 0.32 0.33 0.44 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22688 NA NA NA NA NA 0.428 NA 4.6819 1184 1 89225976 89225976 T C exonic PKN2 NA synonymous SNV PKN2:NM_006256:exon3:c.T421C:p.L141L exonic ENSG00000065243 NA synonymous SNV ENSG00000065243:ENST00000316005:exon3:c.T421C:p.L141L,ENSG00000065243:ENST00000370513:exon3:c.T421C:p.L141L,ENSG00000065243:ENST00000370521:exon3:c.T421C:p.L141L Score=669;Name=lod=701 NA 1p22.2 NA NA NA NA rs430600 0.71 0.71 0.706 0.750599 0.6561 0.6498 0.5807 0.9304 0.8292 0.68 0.63 0.64 0.9 0.6929 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018398 NA NA 0.63614 0.893212 NA 0.79 NA 4.6815266 1184 11 103229027 103229027 T C exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001377:exon83:c.T12096C:p.D4032D,DYNC2H1:NM_001080463:exon84:c.T12117C:p.D4039D exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000533197:exon1:c.T57C:p.D19D,ENSG00000187240:ENST00000375735:exon83:c.T12096C:p.D4032D,ENSG00000187240:ENST00000398093:exon84:c.T12117C:p.D4039D Score=567;Name=lod=270 NA 11q22.3 NA NA NA NA rs2566913 0.53 0.53 0.483 0.495008 0.661 0.4871 0.6816 0.2481 0.5337 0.66 0.5 0.66 0.25 0.6589 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003342 NA NA 0.665565 0.318431 NA 0.536 NA 4.6812016 1184 12 109182049 109182049 T C exonic SSH1 NA synonymous SNV SSH1:NM_018984:exon15:c.A2865G:p.T955T exonic ENSG00000084112 NA synonymous SNV ENSG00000084112:ENST00000360239:exon14:c.A1929G:p.T643T,ENSG00000084112:ENST00000326495:exon15:c.A2865G:p.T955T NA NA 12q24.11 NA NA NA NA rs3741778 0.52 0.52 0.492 0.508586 0.2962 0.6359 0.5216 0.7073 0.318 0.3 0.69 0.49 0.67 0.3877 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899232 NA NA 0.301744 0.654335 NA 0.486 NA 4.6810226 1184 1 161348897 161348897 T A intergenic C1orf192,FCGR2A dist=11224;dist=126308 NA NA ncRNA_exonic ENSG00000236484 NA NA NA Score=590;Name=lod=333 NA 1q23.3 NA NA NA NA rs4534403 0.36 0.36 0.371 0.39377 0.3191 0.2163 0.2464 0.6384 0.4274 0.33 0.22 0.29 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28978 NA NA NA NA NA 0.406 NA 4.6809 1184 20 31598994 31598994 G A intronic BPIFB2 NA NA NA intronic ENSG00000078898 NA NA NA NA NA 20q11.21 NA Name=ZNF263 NA NA rs6141358 0.23 0.23 0.222 0.238219 0.3191 0.1181 0.3012 0.1838 0.3078 0.32 0.11 0.29 0.18 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046815 NA NA NA NA NA 0.333 NA 4.6809 1184 7 4213877 4213877 T C exonic SDK1 NA synonymous SNV SDK1:NM_001079653:exon7:c.T285C:p.N95N,SDK1:NM_152744:exon33:c.T4824C:p.N1608N exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon33:c.T4824C:p.N1608N,ENSG00000146555:ENST00000404826:exon33:c.T4824C:p.N1608N Score=419;Name=lod=67 NA 7p22.2 NA NA NA NA rs601424 0.68 0.68 0.637 0.670727 0.6561 0.7629 0.696 0.5968 0.6728 0.66 0.76 0.69 0.59 0.6836 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.150948 NA NA 0.646163 0.62483 NA 0.63 NA 4.6808036 1184 14 69521345 69521345 G A exonic DCAF5 NA synonymous SNV DCAF5:NM_003861:exon9:c.C2058T:p.T686T exonic ENSG00000139990 NA synonymous SNV ENSG00000139990:ENST00000341516:exon9:c.C2058T:p.T686T,ENSG00000139990:ENST00000554215:exon9:c.C1812T:p.T604T,ENSG00000139990:ENST00000556847:exon9:c.C1812T:p.T604T,ENSG00000139990:ENST00000557386:exon9:c.C2055T:p.T685T NA NA 14q24.1 NA NA NA NA rs61741172 0.17 0.17 0.153 0.128395 0.3787 0.001 0.1715 0.0182 0.1207 0.38 0.0017 0.22 0.03 0.2534 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495552 NA NA 0.35407 0.067181 NA 0.21 NA 4.6804966 1184 2 140426362 140426362 A G intergenic YY1P2,LRP1B dist=769618;dist=562634 NA NA ncRNA_exonic ENSG00000235232 NA NA NA NA NA 2q22.1 NA Name=FOXA1_(C-20) NA NA rs13013764 0.19 0.19 0.186 0.157348 0.3201 0.0546 0.1412 0.143 0.1268 0.32 0.05 0.15 0.18 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911692 NA NA NA NA NA 0.246 NA 4.6799 1184 3 182410060 182410060 C T intergenic FLJ46066,ATP11B dist=205910;dist=101231 NA NA ncRNA_exonic ENSG00000243378 NA NA NA NA NA 3q26.33 NA Name=PAX5-C20 NA NA rs2700879 0.36 0.36 0.349 0.358027 0.3201 0.4673 0.3487 0.3328 0.3252 0.3 0.43 0.41 0.34 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189759 NA NA NA NA NA 0.312 NA 4.6799 1184 4 70222480 70222480 T C intergenic UGT2B28,UGT2B4 dist=61712;dist=123403 NA NA ncRNA_exonic ENSG00000250612 NA NA NA Score=423;Name=lod=70 NA 4q13.2 NA NA NA NA rs12647013 0.35 0.35 0.37 0.330871 0.3201 0.4504 0.3156 0.2927 0.2812 0.32 0.46 0.32 0.27 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855895 NA NA NA NA NA 0.319 NA 4.6799 1184 13 34656572 34656572 A G intergenic RFC3,LINC00457 dist=115877;dist=353019 NA NA ncRNA_exonic ENSG00000227254 NA NA NA Score=592;Name=lod=338 NA 13q13.2 NA NA NA NA rs12584758 0.28 0.28 0.254 0.311102 0.3201 0.4296 0.2003 0.1823 0.4325 0.33 0.39 0.2 0.14 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53762 NA NA NA NA NA 0.413 NA 4.6799 1184 1 204316082 204316082 C T intronic PLEKHA6 NA NA NA ncRNA_exonic ENSG00000219133 NA NA NA Score=752;Name=lod=1518 NA 1q32.1 NA NA NA NA rs11240724 0.71 0.71 0.71 0.710863 0.6541 0.8135 0.7781 0.618 0.7413 0.66 0.87 0.74 0.58 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.835117 2.835117 NA NA NA NA 0.826 NA 4.6792333 1184 1 15789297 15789297 A C exonic CELA2A NA synonymous SNV CELA2A:NM_033440:exon4:c.A297C:p.A99A exonic ENSG00000142615 NA synonymous SNV ENSG00000142615:ENST00000359621:exon4:c.A297C:p.A99A NA NA 1p36.21 NA NA NA NA rs3815787 0.37 0.37 0.354 0.398762 0.3161 0.2321 0.3213 0.6762 0.3354 0.3 0.23 0.34 0.65 0.3399 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458273 NA NA 0.331512 0.608488 ID=COSM301916;OCCURENCE=1(central_nervous_system) 0.413 NA 4.6791546 1184 13 31735759 31735759 G A UTR5 HSPH1 NM_006644:c.-40C>T NA NA UTR5 ENSG00000120694 ENST00000380406:c.-40C>T,ENST00000602786:c.-40C>T,ENST00000380405:c.-40C>T,ENST00000320027:c.-40C>T NA NA NA NA 13q12.3 NA NA Name=3 NA rs2280059 0.22 0.22 0.201 0.252196 0.1928 0.3681 0.2464 0.1611 0.3211 0.2 0.31 0.23 0.14 0.2698 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.846679 1.846679 NA 0.19176 0.178897 NA 0.261 NA 4.6789734 1184 8 8819186 8819186 T A intergenic MFHAS1,ERI1 dist=68055;dist=41128 NA NA ncRNA_exonic ENSG00000207244 NA NA NA Score=522;Name=lod=176 NA 8p23.1 NA NA NA NA rs4841077 0.38 0.38 0.337 0.406949 0.3211 0.5377 0.5159 0.2557 0.4877 0.31 0.55 0.46 0.23 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30333 NA NA NA NA NA 0.29 NA 4.6789 1184 10 90984787 90984787 T G intronic LIPA NA NA NA intronic ENSG00000107798 NA NA NA NA NA 10q23.31 NA NA Name=41 NA rs2297473 0.47 0.47 0.431 0.455671 0.3211 0.752 0.4741 0.2927 0.4959 0.34 0.79 0.44 0.31 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153936 NA NA NA NA NA 0.391 NA 4.6789 1184 11 9734945 9734945 A G intronic SWAP70 NA NA NA intronic ENSG00000133789 NA NA NA Score=295;Name=lod=21 NA 11p15.4 NA NA NA NA rs1390679 0.27 0.27 0.29 0.253794 0.3211 0.1488 0.183 0.3313 0.2382 0.33 0.18 0.22 0.31 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.760824 1.760824 NA NA NA NA 0.384 NA 4.6789 1184 11 126279365 126279365 A T intronic ST3GAL4 NA NA NA intronic ENSG00000110080 NA NA NA NA NA 11q24.2 NA NA Name=2 NA rs1316361 0.37 0.37 0.341 0.334864 0.3211 0.5099 0.33 0.3169 0.1963 0.32 0.49 0.32 0.34 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2131 NA NA NA NA NA 0.464 NA 4.6789 1184 15 40604785 40604785 G C intergenic PLCB2,C15orf52 dist=4611;dist=18868 NA NA ncRNA_exonic ENSG00000244705 NA NA NA Score=796;Name=lod=2290 NA 15q15.1 NA NA NA NA rs12441303 0.21 0.21 0.174 0.172524 0.3211 0.1825 0.1787 0.0651 0.1503 0.32 0.15 0.24 0.08 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539122 NA NA NA NA NA 0.13 NA 4.6789 1184 17 8216737 8216737 A G intronic ARHGEF15 NA NA NA intronic ENSG00000198844 NA NA NA NA NA 17p13.1 NA Name=SIX5 NA NA rs2302867 0.45 0.45 0.425 0.417532 0.3211 0.6488 0.4452 0.4062 0.274 0.32 0.65 0.42 0.43 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630594 NA NA NA NA ID=COSN165325;OCCURENCE=1(breast) 0.37 NA 4.6789 1184 14 88945591 88945591 A G exonic PTPN21 NA synonymous SNV PTPN21:NM_007039:exon13:c.T2184C:p.P728P exonic ENSG00000070778 NA synonymous SNV ENSG00000070778:ENST00000328736:exon12:c.T2184C:p.P728P,ENSG00000070778:ENST00000556564:exon13:c.T2184C:p.P728P NA NA 14q31.3 NA NA NA NA rs879932 0.37 0.37 0.341 0.395567 0.2962 0.38 0.2781 0.5234 0.4243 0.31 0.36 0.28 0.52 0.3545 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429279 NA NA 0.337913 0.503179 NA 0.254 NA 4.6780536 1184 1 182151909 182151909 A G intergenic ZNF648,GLUL dist=121062;dist=198930 NA NA ncRNA_exonic ENSG00000232096 NA NA NA Score=735;Name=lod=1293 NA 1q25.3 NA NA NA NA rs1689791 0.3 0.3 0.29 0.273762 0.3221 0.256 0.3429 0.2542 0.2198 0.3 0.27 0.32 0.3 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527473 NA NA NA NA NA 0.225 NA 4.6779 1184 2 231333890 231333890 C T intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 Score=930;Name=V$TATA_C NA NA NA rs1649875 0.18 0.18 0.165 0.182508 0.3221 0.0635 0.1729 0.0794 0.3078 0.31 0.06 0.19 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582161 NA NA NA NA NA 0.13 NA 4.6779 1184 4 20259622 20259622 A T intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA Name=15 NA rs61790829 0.17 0.17 NA 0.154553 0.3221 0.0446 0.1902 0.0862 0.1626 0.31 0.04 0.21 0.08 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401621 NA NA NA NA NA NA NA 4.6779 1184 12 26733062 26733062 T C exonic ITPR2 NA synonymous SNV ITPR2:NM_002223:exon33:c.A4407G:p.K1469K exonic ENSG00000123104 NA synonymous SNV ENSG00000123104:ENST00000381340:exon33:c.A4407G:p.K1469K NA NA 12p11.23 NA NA NA NA rs2230375 0.21 0.21 0.181 0.19988 0.3559 0.0764 0.2305 0.0885 0.2955 0.35 0.07 0.23 0.13 0.2913 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837729 NA NA 0.34161 0.127531 NA 0.123 NA 4.6778566 1184 1 240307892 240307892 A G intronic FMN2 NA NA NA ncRNA_exonic ENSG00000228818 NA NA NA Score=897;Name=lod=5865 NA 1q43 NA NA NA NA rs1539200 0.64 0.64 0.653 0.69389 0.6561 0.5188 0.5836 0.9183 0.6881 0.66 0.46 0.57 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013897 NA NA NA NA ID=COSN163495;OCCURENCE=1(breast) 0.703 NA 4.6772333 1184 1 240308200 240308200 T C intronic FMN2 NA NA NA ncRNA_exonic ENSG00000228818 NA NA NA Score=897;Name=lod=5865 NA 1q43 NA NA NA NA rs12127949 0.64 0.64 0.637 0.690495 0.6561 0.5 0.5821 0.9183 0.6912 0.66 0.44 0.57 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094096 NA NA NA NA NA 0.674 NA 4.6772333 1184 7 84613016 84613016 C A intergenic SEMA3A,SEMA3D dist=788799;dist=11856 NA NA ncRNA_exonic ENSG00000229251 NA NA NA Score=625;Name=lod=463 NA 7q21.11 NA NA NA NA rs35003658 0.19 0.19 0.14 0.161941 0.3231 0.0605 0.2061 0.0673 0.1973 0.33 0.07 0.23 0.09 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88919 NA NA NA NA NA 0.21 NA 4.6769 1184 8 18240975 18240975 T C intergenic NAT1,NAT2 dist=159777;dist=7780 NA NA ncRNA_exonic ENSG00000244593 NA NA NA Score=762;Name=lod=1659 NA 8p22 NA NA NA NA rs28672253 0.26 0.26 0.248 0.286542 0.3231 0.2639 0.2089 0.2345 0.3978 0.32 0.24 0.21 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287422 NA NA NA NA NA 0.261 NA 4.6769 1184 8 18240991 18240991 G A intergenic NAT1,NAT2 dist=159793;dist=7764 NA NA ncRNA_exonic ENSG00000244593 NA NA NA Score=762;Name=lod=1659 NA 8p22 NA NA NA NA rs28629910 0.26 0.26 0.256 0.286542 0.3231 0.2639 0.2089 0.2345 0.3978 0.32 0.24 0.21 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081233 NA NA NA NA NA 0.261 NA 4.6769 1184 12 55974324 55974324 C A intergenic OR2AP1,OR10P1 dist=5196;dist=56352 NA NA ncRNA_intronic ENSG00000258763 NA NA NA Score=470;Name=lod=108 NA 12q13.2 NA NA NA NA rs10876818 0.45 0.45 0.482 0.476238 0.3231 0.5407 0.3343 0.6135 0.4826 0.34 0.51 0.34 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.61407 1.61407 NA NA NA NA 0.399 NA 4.6769 1184 20 44269656 44269656 G A intergenic WFDC9,WFDC11 dist=9749;dist=7546 NA NA ncRNA_exonic ENSG00000235508 NA NA NA Score=812;Name=lod=2651 NA 20q13.12 NA NA NA NA rs3091816 0.36 0.36 0.288 0.375799 0.3231 0.4415 0.2579 0.3903 0.4264 0.31 0.42 0.28 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049581 NA NA NA NA NA 0.116 NA 4.6769 1184 17 80043739 80043739 A G exonic FASN NA synonymous SNV FASN:NM_004104:exon23:c.T3741C:p.A1247A exonic ENSG00000169710 NA synonymous SNV ENSG00000169710:ENST00000306749:exon23:c.T3741C:p.A1247A NA NA 17q25.3 NA NA NA NA rs2229422 0.26 0.26 0.238 0.236022 0.3121 0.2877 0.2032 0.1997 0.1769 0.3 0.3 0.22 0.18 0.3675 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420111 NA NA 0.310712 0.22528 ID=COSM437819;OCCURENCE=1(breast) 0.225 NA 4.6763546 1184 5 57754004 57754004 C T intronic PLK2 NA NA NA intronic ENSG00000145632 NA NA NA NA NA 5q11.2 Score=912;Name=V$FOXJ2_01 NA Name=105 NA rs697135 0.44 0.44 0.453 0.422324 0.4523 0.2222 0.4265 0.6475 0.2904 0.47 0.2 0.45 0.67 0.4229 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723303 NA NA 0.448476 0.623462 NA 0.442 NA 4.676324 1184 13 50080847 50080847 A G exonic PHF11 NA synonymous SNV PHF11:NM_001040443:exon2:c.A171G:p.L57L,PHF11:NM_001040444:exon3:c.A54G:p.L18L exonic ENSG00000136147 NA synonymous SNV ENSG00000136147:ENST00000378319:exon2:c.A171G:p.L57L,ENSG00000136147:ENST00000442195:exon2:c.A54G:p.L18L,ENSG00000136147:ENST00000488958:exon2:c.A54G:p.L18L,ENSG00000136147:ENST00000357596:exon3:c.A54G:p.L18L,ENSG00000136147:ENST00000465045:exon3:c.A54G:p.L18L,ENSG00000136147:ENST00000485919:exon3:c.A54G:p.L18L NA Name=Cardiac hypertrophy 13q14.2 NA NA NA NA rs2031532 0.79 0.79 0.793 0.782149 0.6421 0.873 0.745 0.9145 0.68 0.65 0.87 0.75 0.93 0.7052 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.1797 NA NA 0.643372 0.878575 NA 0.783 NA 4.6759946 1184 1 202122783 202122783 C A intronic PTPN7 NA NA NA intronic ENSG00000143851 NA NA NA NA NA 1q32.1 NA Name=Pol2-4H8 NA NA rs11590076 0.2 0.2 0.179 0.215256 0.3241 0.0665 0.2695 0.1172 0.3507 0.32 0.05 0.27 0.12 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903334 NA NA NA NA NA 0.217 NA 4.6759 1184 2 3469278 3469278 C G intronic TRAPPC12 NA NA NA intronic ENSG00000171853 NA NA NA NA NA 2p25.3 NA NA Name=8 NA rs4971513 0.33 0.33 0.329 0.326078 0.3241 0.3452 0.2406 0.3487 0.3384 0.32 0.36 0.28 0.35 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413171 NA NA NA NA NA 0.406 NA 4.6759 1184 4 144682805 144682805 G C intergenic FREM3,GYPE dist=60977;dist=109214 NA NA ncRNA_exonic ENSG00000250345 NA NA NA Score=584;Name=lod=316 NA 4q31.21 NA NA NA NA rs17694529 0.19 0.19 0.18 0.158946 0.3241 0.0873 0.2305 0.0265 0.1912 0.34 0.08 0.25 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258491 NA NA NA NA NA 0.203 NA 4.6759 1184 7 84613028 84613028 T C intergenic SEMA3A,SEMA3D dist=788811;dist=11844 NA NA ncRNA_exonic ENSG00000229251 NA NA NA Score=625;Name=lod=463 NA 7q21.11 NA NA NA NA rs10237102 0.22 0.22 0.144 0.202676 0.3241 0.0605 0.2205 0.2133 0.1973 0.33 0.07 0.23 0.22 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761366 NA NA NA NA NA 0.268 NA 4.6759 1184 17 80355975 80355975 C T intronic OGFOD3 NA NA NA intronic ENSG00000181396 NA NA NA NA NA 17q25.3 NA NA Name=3 NA rs62079527 0.15 0.15 0.15 0.151158 0.3241 0.003 0.1816 0.028 0.271 0.33 0.0017 0.2 0.03 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285095 NA NA NA NA NA 0.101 NA 4.6759 1184 19 50927059 50927059 G T intronic SPIB NA NA NA intronic ENSG00000142539,ENSG00000269404 NA NA NA NA NA 19q13.33 NA Name=NRSF NA NA rs76521311 0.05 0.05 0.045 0.0634984 0.0964 0.0238 0.0432 0.0091 0.1585 0.09 0.02 0.06 0.01 0.1282 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092827 NA NA 0.099555 0.038073 NA 0.014 NA 4.675845 1184 19 17296679 17296679 G A intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA Name=Pol2-4H8 NA NA rs2279004 0.23 0.23 0.21 0.209065 0.1541 0.4325 0.33 0.053 0.1605 0.16 0.44 0.28 0.05 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975508 NA NA 0.170292 0.067628 NA 0.101 NA 4.675608 1184 14 103878882 103878882 T C intronic MARK3 NA NA NA ncRNA_exonic ENSG00000244691 NA NA NA Score=750;Name=lod=1489 NA 14q32.32 NA NA NA NA rs4906321 0.69 0.69 0.623 0.680911 0.6581 0.8403 0.7651 0.5257 0.6902 0.66 0.82 0.75 0.52 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.226419 NA NA NA NA NA 0.638 NA 4.6752333 1184 9 123671520 123671520 G A exonic TRAF1 NA synonymous SNV TRAF1:NM_001190947:exon5:c.C654T:p.P218P,TRAF1:NM_005658:exon7:c.C1020T:p.P340P,TRAF1:NM_001190945:exon8:c.C1020T:p.P340P exonic ENSG00000056558 NA synonymous SNV ENSG00000056558:ENST00000546084:exon5:c.C654T:p.P218P,ENSG00000056558:ENST00000373887:exon7:c.C1020T:p.P340P,ENSG00000056558:ENST00000540010:exon8:c.C1020T:p.P340P Score=497;Name=lod=140 NA 9q33.2 NA NA NA NA rs2239657 0.7 0.7 0.708 0.732029 0.6412 0.7242 0.6902 0.7776 0.8016 0.65 0.72 0.7 0.75 0.6877 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.173572 NA NA 0.662674 0.754426 ID=COSM1459713;OCCURENCE=1(large_intestine) 0.645 NA 4.6750926 1185 8 128098838 128098838 G A intergenic PCAT1,POU5F1B dist=65579;dist=329019 NA NA ncRNA_exonic ENSG00000224722 NA NA NA Score=612;Name=lod=408 NA 8q24.21 NA NA NA NA rs55905282 0.18 0.18 0.148 0.130791 0.325 0.0526 0.1902 0.0325 0.1022 0.34 0.07 0.21 0.04 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.633097 2.633097 NA NA NA NA 0.29 NA 4.675 1185 11 67399914 67399914 G T intronic TBX10 NA NA NA intronic ENSG00000167800 NA NA NA NA NA 11q13.2 NA Name=HNF4A_(H-171),HDAC2_(SC-6296),HNF4G_(SC-6558),p300,HNF4A,TCF4,SP1 NA NA rs11227869 0.15 0.15 0.133 0.182109 0.0944 0.0704 0.098 0.41 0.1391 0.09 0.08 0.1 0.36 0.1258 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.180386 NA NA 0.104822 0.3125 NA 0.138 NA 4.674978 1185 5 73930751 73930751 C T exonic ENC1 NA synonymous SNV ENC1:NM_001256576:exon2:c.G1341A:p.K447K,ENC1:NM_003633:exon2:c.G1560A:p.K520K,ENC1:NM_001256574:exon3:c.G1560A:p.K520K,ENC1:NM_001256575:exon3:c.G1560A:p.K520K exonic ENSG00000171617 NA synonymous SNV ENSG00000171617:ENST00000302351:exon2:c.G1560A:p.K520K,ENSG00000171617:ENST00000510316:exon2:c.G1341A:p.K447K,ENSG00000171617:ENST00000537006:exon3:c.G1560A:p.K520K Score=617;Name=lod=429 NA 5q13.3 NA NA NA NA rs300239 0.65 0.65 0.638 0.617812 0.6948 0.6181 0.7464 0.5287 0.5675 0.7 0.65 0.75 0.5 0.6427 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060476 NA NA 0.654419 0.549478 NA 0.638 NA 4.6747476 1185 9 4574022 4574022 A C intronic SLC1A1 NA NA NA intronic ENSG00000106686,ENSG00000106688 NA NA NA NA NA 9p24.2 NA Name=GATA-2 NA NA rs12682807 0.12 0.12 0.099 0.10643 0.1193 0.255 0.1023 0.0053 0.0798 0.12 0.2 0.13 0.01 0.1035 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704292 NA NA 0.102791 0.027463 NA 0.159 NA 4.674409 1185 1 240308348 240308348 C G intronic FMN2 NA NA NA ncRNA_exonic ENSG00000228818 NA NA NA Score=897;Name=lod=5865 NA 1q43 NA NA NA NA rs10926140 0.64 0.64 0.613 0.692692 0.659 0.502 0.585 0.9183 0.6953 0.66 0.44 0.57 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295186 NA NA NA NA NA 0.667 NA 4.6743333 1185 18 28721922 28721922 G A intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA Name=3 NA rs12458919 0.37 0.37 0.348 0.344848 0.2127 0.5665 0.3746 0.4085 0.1452 0.2 0.57 0.35 0.4 0.2621 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464697 NA NA 0.184315 0.398094 NA 0.254 NA 4.6742183 1185 7 75747241 75747241 T C intergenic MDH2,SRRM3 dist=51311;dist=83975 NA NA ncRNA_intronic ENSG00000224273 NA NA NA Score=639;Name=lod=528 NA 7q11.23 NA NA NA NA rs55812043 0.5 0.5 0.499 0.514976 0.326 0.6071 0.4035 0.6876 0.4601 0.33 0.63 0.4 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481797 NA NA NA NA NA 0.601 NA 4.674 1185 16 20615730 20615730 G C intergenic ACSM2B,ACSM1 dist=28035;dist=18829 NA NA ncRNA_exonic ENSG00000260762 NA NA NA Score=346;Name=lod=34 NA 16p12.3 NA NA NA NA rs9921199 NA NA 0.62 0.617212 0.326 0.8472 0.3415 0.8275 0.591 NA NA NA NA NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473302 NA NA NA NA NA 0.587 NA 4.674 1185 1 165992161 165992161 T C intergenic UCK2,FAM78B dist=111306;dist=47095 NA NA ncRNA_exonic ENSG00000226292 NA NA NA Score=786;Name=lod=2087 NA 1q24.1 NA NA NA NA rs11585763 0.29 0.29 0.309 0.340655 0.327 0.1865 0.2104 0.4327 0.4816 0.32 0.19 0.21 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.272726 2.272726 NA NA NA NA 0.348 NA 4.673 1185 4 39229771 39229771 G A intronic WDR19 NA NA NA intronic ENSG00000157796 NA NA NA NA NA 4p14 NA NA Name=32 NA rs11730558 0.28 0.28 0.283 0.282548 0.327 0.1726 0.255 0.3608 0.2638 0.31 0.17 0.22 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594267 NA NA NA NA NA 0.312 NA 4.673 1185 11 5593037 5593037 T A intergenic OR52H1,OR52B6 dist=26284;dist=9070 NA NA ncRNA_exonic ENSG00000229534 NA NA NA Score=668;Name=lod=692 NA 11p15.4 NA NA NA NA rs7102511 0.47 0.47 0.465 0.497604 0.327 0.629 0.5447 0.531 0.4591 0.34 0.62 0.51 0.5 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883454 NA NA NA NA NA 0.384 NA 4.673 1185 6 47563692 47563692 C T exonic CD2AP NA synonymous SNV CD2AP:NM_012120:exon12:c.C1204T:p.L402L exonic ENSG00000198087 NA synonymous SNV ENSG00000198087:ENST00000359314:exon12:c.C1204T:p.L402L NA NA 6p12.3 NA Name=FOXA1_(C-20),GR Name=8 NA rs2039503 0.98 0.98 0.977 0.983027 1 1 0.9957 0.938 1 1 1 0.99 0.93 0.9942 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331402 NA NA 0.999884 0.928507 NA 0.949 NA 4.6725826 1185 19 42373893 42373893 C T intronic RPS19 NA NA NA intronic ENSG00000105372 NA NA NA NA NA 19q13.2 NA Name=Pol2-4H8,CTCF_(SC-5916) Name=8 NA rs2075751 0.78 0.78 0.775 0.759185 0.667 0.8036 0.6758 0.9607 0.5951 0.69 0.81 0.65 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10508 NA NA 0.660591 0.921965 NA 0.761 NA 4.672409 1185 5 78580368 78580368 G A intronic JMY NA NA NA ncRNA_exonic ENSG00000213757 NA NA NA Score=815;Name=lod=2747 NA 5q14.1 NA NA NA NA rs4704552 0.71 0.71 0.736 0.706669 0.661 0.631 0.6052 0.9675 0.5511 0.67 0.63 0.58 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241856 NA NA NA NA NA 0.804 NA 4.6723333 1185 12 20602848 20602848 A T intronic PDE3A NA NA NA ncRNA_exonic ENSG00000131982 NA NA NA Score=707;Name=lod=995 NA 12p12.2 NA NA NA NA rs10841536 0.51 0.51 0.474 0.509185 0.661 0.3393 0.6931 0.4319 0.502 0.65 0.32 0.65 0.4 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185542 NA NA NA NA NA 0.254 NA 4.6723333 1185 14 65392722 65392722 T C intronic CHURC1,CHURC1-FNTB NA NA NA intronic ENSG00000125954,ENSG00000258289 NA NA NA Score=523;Name=lod=178 NA 14q23.3 NA NA NA NA rs72726300 0.08 0.08 0.074 0.0591054 0.1093 0.0853 0.0735 0.0091 0.0378 0.12 0.09 0.09 0.01 0.1012 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.19667 2.19667 NA 0.117373 0.021818 ID=COSM84255;OCCURENCE=1(pancreas) 0.029 NA 4.672127 1185 18 28721913 28721913 C T intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA Name=3 NA rs12458870 0.37 0.37 0.351 0.344649 0.2127 0.5665 0.3746 0.4077 0.1452 0.2 0.57 0.35 0.4 0.2613 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991611 NA NA 0.187224 0.401271 NA 0.254 NA 4.6721093 1185 3 72933767 72933767 C T intergenic SHQ1,GXYLT2 dist=36169;dist=3618 NA NA ncRNA_exonic ENSG00000271266 NA NA NA Score=526;Name=lod=183 NA 3p13 NA NA NA NA rs6805260 0.19 0.19 0.168 0.154553 0.328 0.0109 0.2522 0.1074 0.1186 0.34 0.01 0.27 0.12 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418838 NA NA NA NA NA 0.116 NA 4.672 1185 15 79852090 79852090 C A intergenic KIAA1024,MTHFS dist=87448;dist=283799 NA NA ncRNA_exonic ENSG00000259493 NA NA NA Score=794;Name=lod=2243 NA 15q25.1 NA NA NA NA rs1765254 0.41 0.41 0.419 0.452476 0.328 0.3264 0.5173 0.5212 0.5716 0.33 0.33 0.47 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341279 NA NA NA NA NA 0.406 NA 4.672 1185 16 3373351 3373351 A G intergenic ZNF75A,OR2C1 dist=4775;dist=32538 NA NA ncRNA_exonic ENSG00000262316 NA NA NA Score=550;Name=lod=229 NA 16p13.3 NA NA NA NA rs62033651 0.19 0.19 0.146 0.16274 0.328 0.0327 0.3458 0.0492 0.1503 0.32 0.03 0.35 0.05 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130868 NA NA NA NA NA 0.203 NA 4.672 1185 16 48752787 48752787 A G intergenic N4BP1,CBLN1 dist=108667;dist=559042 NA NA ncRNA_exonic ENSG00000260726 NA NA NA Score=289;Name=lod=20 NA 16q12.1 NA NA NA NA rs12386019 0.55 0.55 0.55 0.585663 0.328 0.8442 0.5216 0.5628 0.6605 0.33 0.88 0.46 0.59 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365514 NA NA NA NA NA 0.37 NA 4.672 1185 18 60109717 60109717 C T intergenic TNFRSF11A,ZCCHC2 dist=54774;dist=80941 NA NA ncRNA_exonic ENSG00000266920 NA NA NA Score=860;Name=lod=4160 NA 18q21.33 NA NA NA NA rs3744931 0.25 0.25 0.243 0.215855 0.328 0.0248 0.3228 0.3389 0.0552 0.32 0.03 0.32 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.669463 2.669463 NA NA NA NA 0.362 NA 4.672 1185 16 2138398 2138398 C T intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs13332221 0.16 0.16 0.157 0.167732 0.1163 NA 0.1398 0.4584 0.0204 0.11 NA 0.16 0.42 0.1102 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133071 NA NA 0.101652 0.396858 NA 0.239 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome;CLNREVSTAT=not;CLNACC=RCV000042680.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1220:C0041341:191100:7199000 4.671848 1185 2 98206188 98206188 C G UTR5 ANKRD36B NM_025190:c.-40G>C NA NA ncRNA_exonic ENSG00000196912 NA NA NA NA NA 2q11.2 NA Name=TAF1,Pol2,Pol2-4H8,HEY1,TBP Name=138 NA rs1868445 0.47 0.47 0.421 0.376597 0.6491 0.3006 0.438 0.3222 0.2045 0.64 0.34 0.48 0.33 0.5283 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434939 NA NA 0.650849 0.396676 NA 0.036 NA 4.671751 1185 1 159832425 159832425 G A UTR5 VSIG8 NM_001013661:c.-114C>T NA NA UTR5 ENSG00000243284 ENST00000368100:c.-114C>T NA NA Score=476;Name=lod=115 NA 1q23.2 NA NA NA NA rs2494507 0.5 0.5 0.446 0.495008 0.662 0.499 0.5778 0.233 0.6145 0.68 0.44 0.58 0.25 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.688282 3.688282 NA NA NA NA 0.449 NA 4.6713334 1185 4 122999081 122999081 G A intergenic TRPC3,KIAA1109 dist=126172;dist=92677 NA NA ncRNA_exonic ENSG00000237868 NA NA NA Score=683;Name=lod=799 NA 4q27 NA NA NA NA rs4833809 0.39 0.39 0.34 0.390775 0.329 0.5923 0.5504 0.0484 0.5961 0.36 0.63 0.5 0.08 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484971 NA NA NA NA NA 0.297 NA 4.671 1185 6 71318071 71318071 T C intergenic C6orf57,SMAP1 dist=19465;dist=59408 NA NA ncRNA_exonic ENSG00000232389 NA NA NA Score=772;Name=lod=1830 NA 6q13 NA NA NA NA rs2691511 0.24 0.24 0.234 0.233227 0.329 0.0179 0.1902 0.3903 0.1748 0.34 0.02 0.2 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076995 NA NA NA NA NA 0.304 NA 4.671 1185 8 53888458 53888458 A T intergenic NPBWR1,OPRK1 dist=35004;dist=249818 NA NA ncRNA_exonic ENSG00000248911 NA NA NA Score=653;Name=lod=602 NA 8q11.23 NA NA NA NA rs2555197 0.34 0.34 0.349 0.349042 0.329 0.1954 0.2781 0.5356 0.3262 0.33 0.2 0.32 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820268 NA NA NA NA NA 0.333 NA 4.671 1185 12 6588445 6588445 A G intergenic VAMP1,MRPL51 dist=8602;dist=12871 NA NA ncRNA_exonic ENSG00000256913 NA NA NA Score=576;Name=lod=291 NA 12p13.31 NA NA NA NA rs2008134 0.24 0.24 0.216 0.219848 0.329 0.3304 0.1859 0.0204 0.2873 0.32 0.33 0.2 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186687 NA NA NA NA NA 0.188 NA 4.671 1185 18 60110284 60110284 T C intergenic TNFRSF11A,ZCCHC2 dist=55341;dist=80374 NA NA ncRNA_exonic ENSG00000266920 NA NA NA Score=860;Name=lod=4160 NA 18q21.33 NA NA NA NA rs59483290 0.25 0.25 0.246 0.217053 0.329 0.0248 0.3242 0.3404 0.0573 0.32 0.03 0.32 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092693 NA NA NA NA NA 0.355 NA 4.671 1185 6 32548068 32548068 T A intronic HLA-DRB1 NA NA NA intronic ENSG00000196126 NA NA NA NA NA 6p21.32 Score=834;Name=V$EVI1_04 NA NA NA rs4498414 0.11 0.11 0.13 0.08127 0.162 0.0278 0.1427 0.0666 0.0297 0.17 0.04 0.17 0.08 0.1672 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908458 NA NA NA NA ID=COSN167740;OCCURENCE=1(large_intestine) 0.065 NA 4.6708 1185 6 15374533 15374533 G A intronic JARID2 NA NA NA intronic ENSG00000008083 NA NA NA NA NA 6p22.3 NA NA Name=9 NA rs13214720 0.07 0.07 0.069 0.0754792 0.1103 0.0694 0.0764 0.0197 0.1207 0.1 0.06 0.08 0.03 0.0995 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415754 NA NA 0.119419 0.025647 NA 0.188 NA 4.670781 1185 20 44518843 44518843 A T ncRNA_intronic NEURL2 NA NA NA UTR5 ENSG00000064601 ENST00000606788:c.-1122A>T NA NA NA NA 20q13.12 NA Name=CTCF,CHD2_(N-1250),ELF1_(SC-631),Rad21,Max,Pol2,YY1_(C-20),E2F6_(H-50),TAF1,USF-1,TBP,CTCF_(C-20),RFX5_(N-494),CTCF_(SC-5916),Sin3Ak-20,FOSL2 Name=134 NA rs3817731 0.61 0.61 0.579 0.588658 0.6074 0.6746 0.7262 0.4705 0.5429 0.63 0.66 0.69 0.45 0.6169 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693508 NA NA 0.605165 0.505234 NA 0.616 NA 4.670535 1185 16 3406516 3406516 A G exonic OR2C1 NA synonymous SNV OR2C1:NM_012368:exon1:c.A576G:p.T192T exonic ENSG00000168158 NA synonymous SNV ENSG00000168158:ENST00000304936:exon1:c.A576G:p.T192T NA NA 16p13.3 NA NA NA NA rs11643487 0.32 0.32 0.307 0.316893 0.336 0.1736 0.2882 0.4357 0.3047 0.34 0.17 0.31 0.45 0.3212 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.276465 NA NA 0.338953 0.429222 NA 0.413 NA 4.6705136 1185 11 75110680 75110680 C T intronic RPS3 NA NA NA intronic ENSG00000149273 NA NA NA NA NA 11q13.4 NA Name=GTF2B,TCF12,TBP,CCNT2,c-Myc,HEY1,NFKB,CTCF_(C-20),GCN5,Ini1,YY1,HA-E2F1,Sin3Ak-20,Pol2-4H8,Pol2(b),JunD,ZZZ3,CTCF,EBF1_(C-8),p300,GTF2F1_(RAP-74),Max,ELF1_(SC-631),Oct-2,Pol2,SP1,NRSF,Pol2(phosphoS2),TCF4,YY1_(C-20),TAF7_(SQ-8),TAF1,POU2F2,HMGN3 NA NA rs7131286 0.29 0.29 0.315 0.29393 0.173 0.2669 0.1513 0.5605 0.1871 0.18 0.28 0.17 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122744 NA NA 0.156505 0.486272 NA 0.217 NA 4.670495 1185 3 111289827 111289827 A G intronic CD96 NA NA NA ncRNA_exonic ENSG00000240787 NA NA NA Score=295;Name=lod=21 NA 3q13.13 NA NA NA NA rs721336 0.65 0.65 0.658 0.66873 0.663 0.6329 0.6556 0.6997 0.6789 0.67 0.63 0.62 0.68 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.84716 1.84716 NA NA NA NA 0.732 NA 4.6703333 1185 3 72925997 72925997 C T intergenic SHQ1,GXYLT2 dist=28399;dist=11388 NA NA ncRNA_exonic ENSG00000240135 NA NA NA Score=651;Name=lod=587 NA 3p13 NA NA NA NA rs7640629 0.21 0.21 0.194 0.192093 0.33 0.0427 0.2291 0.1906 0.18 0.34 0.03 0.25 0.2 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677079 NA NA NA NA NA 0.123 NA 4.67 1185 5 144609533 144609533 G A intergenic KCTD16,PRELID2 dist=752589;dist=529049 NA NA ncRNA_exonic ENSG00000215325 NA NA NA Score=668;Name=lod=689 NA 5q32 NA NA NA NA rs17471413 0.17 0.17 0.141 0.142572 0.33 0.0675 0.232 0.0446 0.0961 0.33 0.05 0.23 0.04 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.175107 NA NA NA NA NA 0.196 NA 4.67 1185 6 31243767 31243767 G C intergenic HLA-C,HLA-B dist=3854;dist=77882 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=429;Name=lod=74 NA 6p21.33 NA NA NA NA rs3931670 0.3 0.3 0.292 0.322284 0.33 0.1389 0.3084 0.4115 0.3926 0.33 0.16 0.3 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.9122 NA NA NA NA NA 0.225 NA 4.67 1185 11 61490486 61490486 C T intronic DAGLA NA NA NA intronic ENSG00000134780 NA NA NA NA Name=Phospholipid levels (plasma) 11q12.2 NA NA NA NA rs198426 0.15 0.15 0.152 0.133586 0.33 0.0258 0.2017 0.0129 0.1575 0.31 0.02 0.21 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678663 NA NA NA NA NA 0.159 NA 4.67 1185 11 111750430 111750430 A G intronic C11orf1 NA NA NA intronic ENSG00000137720,ENSG00000255561 NA NA NA NA NA 11q23.1 NA Name=YY1,Pol2 NA NA rs7107213 0.27 0.27 0.26 0.244609 0.33 0.1915 0.3228 0.1982 0.2188 0.32 0.18 0.36 0.23 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907553 NA NA NA NA NA 0.326 NA 4.67 1185 1 24859665 24859665 G A exonic RCAN3 NA synonymous SNV RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P exonic ENSG00000117602 NA synonymous SNV ENSG00000117602:ENST00000538532:exon2:c.G288A:p.P96P,ENSG00000117602:ENST00000374395:exon4:c.G462A:p.P154P,ENSG00000117602:ENST00000436717:exon4:c.G432A:p.P144P NA NA 1p36.11 NA NA NA NA rs196430 0.41 0.41 0.393 0.383586 0.3221 0.6776 0.3314 0.2458 0.3671 0.34 0.68 0.31 0.28 0.3552 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35072 NA NA 0.319651 0.266909 NA 0.254 NA 4.6697156 1185 1 21939741 21939741 G C intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=YY1,NRSF,eGFP-JunD,GATA-2,Pol2-4H8,E2F6_(H-50),GATA-1,Pol2(b),TAL1_(SC-12984),TBP,eGFP-GATA2,HEY1,ZBTB7A_(SC-34508) Name=2 NA rs1256282 0.47 0.47 0.421 0.48103 0.4264 0.5357 0.6484 0.4085 0.4601 0.42 0.5 0.63 0.41 0.4675 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039416 NA NA 0.436395 0.41103 ID=COSN163000;OCCURENCE=1(breast),10(lung) 0.457 NA 4.669705 1185 13 101881777 101881777 G A exonic NALCN NA synonymous SNV NALCN:NM_052867:exon13:c.C1593T:p.V531V exonic ENSG00000102452 NA synonymous SNV ENSG00000102452:ENST00000251127:exon13:c.C1593T:p.V531V,ENSG00000102452:ENST00000376196:exon13:c.C1593T:p.V531V NA NA 13q33.1 NA NA NA NA rs3916906 0.19 0.19 0.193 0.192292 0.3519 0.0417 0.1888 0.1029 0.3067 0.33 0.02 0.22 0.14 0.2858 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.554888 NA NA 0.359419 0.133681 ID=COSM147711;OCCURENCE=1(stomach) 0.283 NA 4.6695476 1185 19 39936502 39936502 G A UTR5 SUPT5H NM_001111020:c.-29G>A,NM_001130825:c.-29G>A,NM_003169:c.-29G>A NA NA UTR5 ENSG00000196235 ENST00000594990:c.-29G>A,ENST00000599117:c.-29G>A,ENST00000402194:c.-29G>A,ENST00000432763:c.-29G>A,ENST00000359191:c.-29G>A,ENST00000598725:c.-29G>A NA NA NA NA 19q13.2 NA Name=Ini1,ZNF263,SRF,GR Name=2 NA rs1932 0.59 0.59 0.611 0.636581 0.5606 0.5724 0.5245 0.7988 0.6411 0.56 0.51 0.53 0.76 0.5823 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802731 NA NA 0.52093 0.751021 NA 0.341 NA 4.6695034 1185 2 182403851 182403851 G A exonic CERKL NA synonymous SNV CERKL:NM_001030312:exon9:c.C1167T:p.D389D,CERKL:NM_001030313:exon10:c.C1299T:p.D433D,CERKL:NM_001160277:exon12:c.C1452T:p.D484D,CERKL:NM_201548:exon12:c.C1506T:p.D502D,CERKL:NM_001030311:exon13:c.C1584T:p.D528D exonic ENSG00000188452 NA synonymous SNV ENSG00000188452:ENST00000374969:exon9:c.C1167T:p.D389D,ENSG00000188452:ENST00000374970:exon10:c.C1299T:p.D433D,ENSG00000188452:ENST00000409440:exon12:c.C1452T:p.D484D,ENSG00000188452:ENST00000410087:exon12:c.C1506T:p.D502D,ENSG00000188452:ENST00000339098:exon13:c.C1584T:p.D528D Score=482;Name=lod=121 NA 2q31.3 Score=926;Name=V$AP1FJ_Q2 NA NA NA rs10180793 0.99 0.99 0.986 0.991214 1 1 0.9971 0.9682 1 1 1 1 0.96 0.9975 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918895 NA NA 0.999767 0.980481 NA 0.993 NA 4.6693996 1185 6 37252210 37252210 C T exonic TBC1D22B NA synonymous SNV TBC1D22B:NM_017772:exon6:c.C771T:p.N257N exonic ENSG00000065491 NA synonymous SNV ENSG00000065491:ENST00000373491:exon6:c.C771T:p.N257N Score=657;Name=lod=621 NA 6p21.2 NA NA NA NA rs3818136 0.68 0.68 0.694 0.697284 0.6551 0.8462 0.6787 0.5734 0.7679 0.66 0.88 0.63 0.53 0.6821 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262616 1.262616 NA 0.660349 0.578756 NA 0.601 NA 4.6691176 1185 2 20491321 20491321 G A intronic PUM2 NA NA NA intronic ENSG00000055917 NA NA NA Score=329;Name=lod=29 NA 2p24.1 NA NA NA NA rs11896241 0.26 0.26 0.257 0.24401 0.331 0.2044 0.2795 0.1346 0.318 0.34 0.21 0.31 0.14 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626496 NA NA NA NA NA 0.225 NA 4.669 1185 7 22862131 22862131 A C intronic TOMM7 NA NA NA intronic ENSG00000196683 NA NA NA NA NA 7p15.3 NA Name=Pol2,AP-2gamma,Ini1 NA NA rs2270108 0.5 0.5 0.515 0.523962 0.331 0.6528 0.3559 0.7118 0.455 0.35 0.66 0.34 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031048 NA NA NA NA NA 0.471 NA 4.669 1185 7 22862183 22862183 G A intronic TOMM7 NA NA NA intronic ENSG00000196683 NA NA NA NA NA 7p15.3 NA Name=AP-2gamma,Ini1,Pol2 NA NA rs2270107 0.51 0.51 0.519 0.523762 0.331 0.6528 0.3559 0.7118 0.454 0.36 0.66 0.34 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072634 NA NA NA NA NA 0.471 NA 4.669 1185 11 102166344 102166344 A G intergenic YAP1,BIRC3 dist=62190;dist=21837 NA NA ncRNA_exonic ENSG00000243777 NA NA NA Score=800;Name=lod=2385 NA 11q22.2 NA NA NA NA rs17769417 0.33 0.33 0.325 0.336462 0.331 0.2748 0.3919 0.351 0.3466 0.31 0.33 0.4 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760881 NA NA NA NA NA 0.312 NA 4.669 1185 17 73094407 73094407 C T intronic SLC16A5 NA NA NA intronic ENSG00000170190 NA NA NA NA NA 17q25.1 NA Name=GATA3_(SC-268) NA NA rs7212311 0.24 0.24 0.2 0.232428 0.331 0.1706 0.2795 0.1467 0.2771 0.35 0.16 0.3 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168366 NA NA NA NA NA 0.181 NA 4.669 1185 1 241798631 241798631 C T exonic CHML NA synonymous SNV CHML:NM_001821:exon1:c.G438A:p.S146S exonic ENSG00000203668 NA synonymous SNV ENSG00000203668:ENST00000366553:exon1:c.G438A:p.S146S NA NA 1q43 NA NA NA NA rs3737604 0.26 0.26 0.245 0.276558 0.3241 0.2232 0.2565 0.2254 0.3661 0.32 0.2 0.27 0.22 0.324 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.203827 NA NA 0.349732 0.256695 ID=COSM146840;OCCURENCE=1(stomach) 0.203 NA 4.6688346 1185 6 30521137 30521137 G A exonic GNL1 NA synonymous SNV GNL1:NM_005275:exon6:c.C798T:p.D266D exonic ENSG00000204590 NA synonymous SNV ENSG00000204590:ENST00000433809:exon5:c.C792T:p.D264D,ENSG00000204590:ENST00000376621:exon6:c.C798T:p.D266D Score=381;Name=lod=47 NA 6p21.33 NA NA NA NA rs2074505 0.64 0.64 0.647 0.661142 0.667 0.621 0.5605 0.6641 0.7638 0.68 0.64 0.54 0.66 0.6704 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222743 NA NA 0.660945 0.664792 NA 0.717 NA 4.6683216 1185 10 99141205 99141205 A G exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon10:c.T1173C:p.A391A,RRP12:NM_015179:exon12:c.T1356C:p.A452A exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon6:c.T510C:p.A170A,ENSG00000052749:ENST00000315563:exon9:c.T1056C:p.A352A,ENSG00000052749:ENST00000414986:exon10:c.T1173C:p.A391A,ENSG00000052749:ENST00000370992:exon12:c.T1356C:p.A452A NA NA 10q24.1 NA NA NA NA rs2275089 0.37 0.37 0.369 0.404752 0.337 0.3125 0.3415 0.553 0.4141 0.33 0.28 0.33 0.58 0.3431 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647431 NA NA 0.318372 0.493872 NA 0.304 NA 4.6681946 1185 4 113709346 113709346 C T intergenic LARP7,ANK2 dist=130598;dist=29893 NA NA ncRNA_exonic ENSG00000241741 NA NA NA Score=794;Name=lod=2244 NA 4q25 NA NA NA NA rs7662486 0.33 0.33 0.339 0.342452 0.332 0.3601 0.3415 0.3434 0.3344 0.32 0.35 0.32 0.34 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160519 NA NA NA NA NA 0.319 NA 4.668 1185 10 28726025 28726025 G A intergenic MPP7,WAC-AS1 dist=154958;dist=82821 NA NA ncRNA_intronic ENSG00000237128 NA NA NA Score=805;Name=lod=2496 NA 10p12.1 NA NA NA NA rs11007111 0.29 0.29 0.262 0.269169 0.332 0.3105 0.3602 0.1687 0.2331 0.33 0.31 0.36 0.15 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131204 NA NA NA NA NA 0.254 NA 4.668 1185 15 90159575 90159575 T C intronic TICRR NA NA NA intronic ENSG00000140534 NA NA NA NA NA 15q26.1 NA Name=MafF_(M8194),MafK_(ab50322) NA NA rs56036125 0.27 0.27 0.26 0.277556 0.332 0.3968 0.2896 0.0832 0.3528 0.34 0.35 0.25 0.08 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.789882 1.789882 NA NA NA NA 0.268 NA 4.668 1185 4 55161391 55161391 T C exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon23:c.T3222C:p.D1074D exonic ENSG00000134853,ENSG00000145216 NA synonymous SNV ENSG00000134853:ENST00000257290:exon23:c.T3222C:p.D1074D,ENSG00000145216:ENST00000507166:exon24:c.T2502C:p.D834D Score=574;Name=lod=287 NA 4q12 Score=834;Name=V$PBX1_02 NA NA NA rs7685117 1 1 0.997 0.997204 1 1 1 0.9894 1 1 1 1 0.99 0.999 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026519 NA NA 1 0.990468 NA 0.993 NA 4.6676666 1185 4 3221872 3221872 C G intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA Name=6 NA rs362276 0.12 0.12 0.141 0.131589 0.1083 0.0248 0.0951 0.267 0.1084 0.11 0.03 0.09 0.27 0.1119 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350534 NA NA 0.112578 0.22619 NA 0.123 NA 4.667222 1185 6 32609061 32609061 T A intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs28654242 0.09 0.09 0.066 0.0746805 0.1292 0.0526 0.1095 0.059 0.0378 0.12 0.04 0.12 0.07 0.0909 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734876 NA NA 0.112689 0.076714 NA 0.167 NA 4.667211 1185 19 48244194 48244194 A G exonic EHD2 NA synonymous SNV EHD2:NM_014601:exon6:c.A1137G:p.L379L exonic ENSG00000024422 NA synonymous SNV ENSG00000024422:ENST00000538399:exon5:c.A729G:p.L243L,ENSG00000024422:ENST00000263277:exon6:c.A1137G:p.L379L Score=545;Name=lod=219 NA 19q13.33 NA NA NA NA rs7255434 0.52 0.52 0.464 0.498003 0.672 0.5605 0.5519 0.1346 0.7076 0.68 0.56 0.57 0.16 0.6293 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215608 NA NA 0.698256 0.239219 NA 0.572 NA 4.6671106 1185 4 113709293 113709293 G A intergenic LARP7,ANK2 dist=130545;dist=29946 NA NA ncRNA_exonic ENSG00000241741 NA NA NA Score=794;Name=lod=2244 NA 4q25 NA NA NA NA rs7662801 0.33 0.33 0.32 0.342452 0.333 0.3601 0.3415 0.3427 0.3344 0.32 0.35 0.32 0.34 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099696 NA NA NA NA NA 0.312 NA 4.667 1185 3 116545995 116545995 C A intergenic LSAMP-AS3,NONE dist=110108;dist=NONE NA NA intronic ENSG00000185565 NA NA NA NA NA 3q13.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869588 NA NA NA NA NA NA NA 4.6666667 1185 6 167311362 167311362 C T intergenic RPS6KA2,RNASET2 dist=35591;dist=31642 NA NA intronic ENSG00000071242,ENSG00000249141 NA NA NA NA NA 6q27 NA NA NA NA NA NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786518 NA NA NA NA NA NA NA 4.6666667 1185 17 44360744 44360744 T C intergenic KANSL1,LRRC37A dist=58004;dist=11753 NA NA intronic ENSG00000228696 NA NA NA Score=584;Name=lod=315 NA 17q21.31 NA NA NA NA rs2696513 NA NA 0.1 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220267 NA 0.03 NA NA NA 0.022 NA 4.6666667 1185 1 111970541 111970541 T A upstream OVGP1 NA NA NA upstream ENSG00000085465 NA NA NA NA NA 1p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857023 NA NA NA NA NA NA NA 4.6666666 1185 1 111970554 111970554 A C upstream OVGP1 NA NA NA upstream ENSG00000085465 NA NA NA NA NA 1p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259291 NA NA NA NA NA NA NA 4.6666666 1185 2 89082422 89082422 A G ncRNA_exonic ANKRD36BP2 NA NA NA ncRNA_exonic ENSG00000230006 NA NA NA NA NA 2p11.2 NA NA NA NA rs78593876 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.227633 NA NA NA NA NA NA NA 4.6666666 1185 2 89082520 89082520 G A ncRNA_intronic ANKRD36BP2 NA NA NA ncRNA_intronic ENSG00000230006 NA NA NA NA NA 2p11.2 NA NA NA NA rs72930612 NA NA 0.249 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635906 NA NA NA NA NA NA NA 4.6666666 1185 2 96685085 96685085 G A ncRNA_intronic FAHD2CP NA NA NA ncRNA_intronic ENSG00000231584 NA NA NA NA NA 2q11.1 NA NA NA NA rs62155521 NA NA 0.128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.021483 NA NA NA NA NA NA NA 4.6666666 1185 2 96685092 96685092 A G ncRNA_intronic FAHD2CP NA NA NA ncRNA_intronic ENSG00000231584 NA NA NA NA NA 2q11.1 NA NA NA NA rs62155522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863676 NA NA NA NA NA NA NA 4.6666666 1185 2 130893888 130893888 T C ncRNA_intronic CCDC74B-AS1 NA NA NA ncRNA_exonic ENSG00000223760 NA NA NA NA NA 2q21.1 NA NA NA NA rs60354704 0.39 0.39 0.263 NA NA NA NA NA NA 0.35 0.46 0.4 0.34 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073323 NA NA NA NA NA 0.304 NA 4.6666666 1185 4 3578004 3578004 G A upstream FLJ35424 NA NA NA upstream ENSG00000216560 NA NA NA NA NA 4p16.3 NA NA Name=2 NA rs73199343 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968241 NA NA NA NA NA 0.326 NA 4.6666666 1185 4 3578037 3578037 T C upstream FLJ35424 NA NA NA upstream ENSG00000216560 NA NA NA NA NA 4p16.3 NA NA Name=2 NA rs73792245 NA NA 0.381 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825638 NA NA NA NA NA 0.014 NA 4.6666666 1185 4 3578069 3578069 A G upstream FLJ35424 NA NA NA upstream ENSG00000216560 NA NA NA NA NA 4p16.3 NA NA Name=2 NA rs80271737 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706422 NA NA NA NA NA 0.341 NA 4.6666666 1185 6 32523212 32523212 T C ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs77024104 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153566 NA NA NA NA NA 0.101 NA 4.6666666 1185 6 32523256 32523256 C T ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs112320748 NA NA 0.51 NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421175 NA NA NA NA NA 0.058 NA 4.6666666 1185 7 76631451 76631451 G A ncRNA_intronic DTX2P1-UPK3BP1-PMS2P11 NA NA NA ncRNA_intronic ENSG00000186704,ENSG00000265479 NA NA NA NA NA 7q11.23 NA NA NA NA rs28660402 NA NA 0.557 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683667 NA NA NA NA NA 0.043 NA 4.6666666 1185 8 12232201 12232201 A C ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000254423 NA NA NA NA NA 8p23.1 NA NA NA NA rs2684055 NA NA 0.218 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506927 NA NA NA NA NA 0.203 NA 4.6666666 1185 8 12236231 12236231 A C ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000255556 NA NA NA NA NA 8p23.1 NA NA NA NA rs58243878 NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263843 NA NA NA NA NA NA NA 4.6666666 1185 8 12237588 12237588 G A ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000255556 NA NA NA NA NA 8p23.1 NA NA NA NA rs2739965 0.45 0.45 0.429 NA NA NA NA NA NA 0.45 0.34 0.4 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312534 NA NA NA NA NA 0.101 NA 4.6666666 1185 8 12237832 12237832 G T ncRNA_intronic FAM66A NA NA NA ncRNA_intronic ENSG00000227888 NA NA NA NA NA 8p23.1 NA NA NA NA rs2684052 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728373 NA NA NA NA NA 0.152 NA 4.6666666 1185 9 67285167 67285167 A C ncRNA_intronic AQP7P1 NA NA NA ncRNA_intronic ENSG00000186466 NA NA NA NA NA 9q13 NA NA NA NA rs9286374 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508751 NA NA NA NA NA NA NA 4.6666666 1185 9 68428971 68428971 G A ncRNA_intronic LOC642236 NA NA NA ncRNA_intronic ENSG00000215548 NA NA NA NA NA 9q13 NA NA NA NA rs62543295 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24154 NA NA NA NA NA NA NA 4.6666666 1185 11 124439844 124439844 A G upstream OR8A1 NA NA NA upstream ENSG00000196119 NA NA NA NA NA 11q24.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592896 NA NA NA NA NA NA NA 4.6666666 1185 12 8386878 8386878 C T ncRNA_exonic FAM86FP NA NA NA ncRNA_exonic ENSG00000164845 NA NA NA NA NA 12p13.31 NA NA NA NA rs10841037 0.52 0.52 0.447 NA NA NA NA NA NA 0.67 0.47 0.51 0.37 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447547 NA NA NA NA NA 0.022 NA 4.6666666 1185 12 9464133 9464133 C G ncRNA_intronic LOC642846 NA NA NA ncRNA_intronic ENSG00000111788 NA NA NA NA NA 12p13.31 NA NA NA NA rs10843383 0.41 0.41 0.344 NA NA NA NA NA NA 0.48 0.27 0.49 0.42 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233161 1.233161 NA NA NA NA 0.014 NA 4.6666666 1185 15 20495408 20495408 G A ncRNA_exonic CHEK2P2 NA NA NA ncRNA_exonic ENSG00000259156 NA NA NA NA NA 15q11.1 NA NA NA NA rs2954587 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065096 NA NA NA NA NA 0.232 NA 4.6666666 1185 15 21937658 21937658 C T ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs28502402 NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89987 NA NA NA NA NA 0.232 NA 4.6666666 1185 15 21938049 21938049 C T ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs2343906 NA NA 0.849 NA NA NA NA NA NA NA NA NA NA NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.172928 2.172928 NA NA NA NA 0.928 NA 4.6666666 1185 15 21938082 21938082 G A ncRNA_exonic LOC646214 NA NA NA ncRNA_exonic ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs28655354 NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465367 NA NA NA NA NA 0.217 NA 4.6666666 1185 15 22140512 22140512 A C ncRNA_intronic NF1P2 NA NA NA ncRNA_intronic ENSG00000258997 NA NA NA NA NA 15q11.2 NA NA NA NA rs2626255 NA NA 0.773 NA NA NA NA NA NA NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169694 NA NA NA NA NA 0.435 NA 4.6666666 1185 15 22298230 22298230 A T ncRNA_intronic LOC727924 NA NA NA ncRNA_exonic ENSG00000258721 NA NA NA NA NA 15q11.2 NA NA NA NA rs8036276 NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422661 NA NA NA NA ID=COSN164864;OCCURENCE=1(NS) 0.065 NA 4.6666666 1185 15 22298578 22298578 G T ncRNA_intronic LOC727924 NA NA NA ncRNA_intronic ENSG00000259176 NA NA NA NA NA 15q11.2 NA NA NA NA rs66476406 NA NA 0.299 NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.862273 NA NA NA NA NA 0.225 NA 4.6666666 1185 16 33500743 33500743 T C ncRNA_intronic RNU6-76P NA NA NA ncRNA_intronic ENSG00000260518 NA NA NA NA NA 16p11.2 NA NA NA NA rs3888934 NA NA 0.249 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442273 NA NA NA NA NA NA NA 4.6666666 1185 18 14183840 14183840 T A ncRNA_intronic ANKRD20A5P NA NA NA ncRNA_intronic ENSG00000186481 NA NA NA NA NA 18p11.21 NA NA NA NA rs62085007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487313 NA NA NA NA NA NA NA 4.6666666 1185 19 10163380 10163380 G A ncRNA_intronic C3P1 NA NA NA ncRNA_intronic ENSG00000167798 NA NA NA NA NA 19p13.2 NA NA NA NA rs73922311 0.01 0.01 0.012 0.0131789 NA NA 0.0014 0.0492 NA NA NA 0.0028 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414853 NA NA NA NA NA 0.014 NA 4.6666666 1185 19 15882763 15882763 T G ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs3752147 0.86 0.86 0.818 NA NA NA NA NA NA 0.82 0.92 0.84 0.85 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099324 NA NA NA NA NA 0.783 NA 4.6666666 1185 21 14418486 14418486 T C ncRNA_intronic ANKRD30BP2 NA NA NA ncRNA_exonic ENSG00000224309 NA NA NA NA NA 21q11.2 NA NA NA NA rs2821621 NA NA 0.451 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558508 NA NA NA NA NA NA NA 4.6666666 1185 X 1531457 1531457 C T ncRNA_intronic ASMTL-AS1 NA NA NA ncRNA_intronic ENSG00000236017 NA NA NA NA NA Xp22.33 NA NA NA NA rs5989842 0.39 0.39 0.38394 NA NA NA NA NA NA 0.42 0.37 0.4 0.37 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464412 NA NA NA NA NA 0.442 NA 4.6666666 1185 X 1531838 1531838 A G ncRNA_exonic ASMTL-AS1 NA NA NA ncRNA_exonic ENSG00000236017 NA NA NA NA NA Xp22.33 NA NA NA NA rs5949005 0.42 0.42 0.4213 NA NA NA NA NA NA 0.45 0.41 0.43 0.4 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276581 NA NA NA NA NA 0.464 NA 4.6666666 1185 6 144093352 144093352 C T intronic PHACTR2 NA NA NA intronic ENSG00000112419 NA NA NA NA NA 6q24.2 NA NA Name=20 NA rs1018463 0.22 0.22 0.208 0.205671 0.1004 0.4018 0.1873 0.1694 0.1738 0.11 0.41 0.19 0.18 0.1441 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438612 NA NA 0.089026 0.163091 NA 0.174 NA 4.666474 1185 19 54201750 54201750 A T downstream MIR523,MIR525 NA NA NA downstream ENSG00000207711,ENSG00000208016 NA NA NA NA NA 19q13.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680494 NA NA NA NA NA NA NA 4.6664666 1185 6 39196662 39196662 C A intronic KCNK5 NA NA NA intronic ENSG00000164626 NA NA NA NA NA 6p21.2 NA Name=BCL3 NA NA rs2241595 0.2 0.2 0.175 0.212859 0.1004 0.3105 0.1095 0.2859 0.2025 0.1 0.33 0.12 0.25 0.1421 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327228 1.327228 NA 0.091279 0.249433 NA 0.109 NA 4.666221 1185 2 76334174 76334174 T G intergenic GCFC2,LRRTM4 dist=396063;dist=640676 NA NA ncRNA_exonic ENSG00000233107 NA NA NA Score=761;Name=lod=1646 NA 2p12 NA NA NA NA rs317294 0.24 0.24 0.244 0.233626 0.334 0.2222 0.3098 0.0575 0.3262 0.35 0.22 0.27 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196965 NA NA NA NA NA 0.312 NA 4.666 1185 10 72633458 72633458 C T intronic SGPL1 NA NA NA intronic ENSG00000166224 NA NA NA NA NA 10q22.1 NA NA Name=2 NA rs10762410 0.36 0.36 0.337 0.379193 0.334 0.4831 0.4078 0.2262 0.5051 0.35 0.46 0.39 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265124 NA NA NA NA NA 0.362 NA 4.666 1185 10 72633502 72633502 C T intronic SGPL1 NA NA NA intronic ENSG00000166224 NA NA NA NA NA 10q22.1 NA NA Name=2 NA rs10823632 0.36 0.36 0.321 0.378994 0.334 0.4831 0.4078 0.2254 0.5051 0.35 0.46 0.39 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343003 NA NA NA NA NA 0.355 NA 4.666 1185 15 89111610 89111610 G A intergenic DET1,MIR1179 dist=21698;dist=39728 NA NA ncRNA_exonic ENSG00000259569 NA NA NA Score=369;Name=lod=42 NA 15q26.1 NA NA NA NA rs17197194 0.28 0.28 0.271 0.246406 0.334 0.2183 0.2104 0.2564 0.1973 0.33 0.24 0.27 0.27 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767823 NA NA NA NA NA 0.283 NA 4.666 1185 17 16832577 16832577 A G intergenic KRT16P2,TNFRSF13B dist=96430;dist=9821 NA NA ncRNA_exonic ENSG00000128438 NA NA NA NA NA 17p11.2 NA NA Name=2 NA rs3794774 0.42 0.42 0.414 0.424321 0.334 0.497 0.3948 0.4758 0.3937 0.33 0.49 0.4 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.092016 NA NA NA NA NA 0.355 NA 4.666 1185 19 44977382 44977382 C T intergenic ZNF229,ZNF180 dist=24717;dist=2477 NA NA ncRNA_exonic ENSG00000176761 NA NA NA NA NA 19q13.31 NA NA Name=2 NA rs1897822 0.25 0.25 0.235 0.261981 0.334 0.0813 0.2478 0.4251 0.1636 0.3 0.08 0.24 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154831 NA NA NA NA NA 0.312 NA 4.666 1185 1 6204222 6204222 C G intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA Score=486;Name=lod=126 NA 1p36.31 NA NA NA NA rs17489787 0.13 0.13 0.13 0.166933 0.0944 0.1359 0.1326 0.1967 0.2577 0.11 0.12 0.14 0.17 0.1376 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.153844 NA NA 0.102093 0.210168 NA 0.167 NA 4.665907 1185 9 116840338 116840338 C T intronic AMBP NA NA NA intronic ENSG00000106927 NA NA NA NA NA 9q32 NA NA Name=9 NA rs2285056 0.09 0.09 0.091 0.102436 0.0984 0.0387 0.072 0.0802 0.2239 0.11 0.04 0.08 0.11 0.1151 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206262 NA NA 0.120814 0.074217 NA 0.116 NA 4.665686 1185 2 131946145 131946145 C G intergenic PLEKHB2,POTEE dist=38720;dist=29779 NA NA intronic ENSG00000115762 NA NA NA NA NA 2q21.1 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624144 NA NA NA NA NA NA NA 4.6656667 1185 19 22785566 22785566 C T ncRNA_intronic LOC440518 NA NA NA ncRNA_exonic ENSG00000221790 NA NA NA NA NA 19p12 NA NA NA NA rs28462025 0.03 0.03 0.03 0.038139 0.001 NA 0.0058 0.1407 NA 0.0013 NA 0.01 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9223 NA NA NA NA NA 0.08 NA 4.6656666 1185 1 24859617 24859617 G A exonic RCAN3 NA synonymous SNV RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P exonic ENSG00000117602 NA synonymous SNV ENSG00000117602:ENST00000538532:exon2:c.G240A:p.P80P,ENSG00000117602:ENST00000374395:exon4:c.G414A:p.P138P,ENSG00000117602:ENST00000436717:exon4:c.G384A:p.P128P NA NA 1p36.11 NA NA NA NA rs196429 0.41 0.41 0.395 0.383586 0.3221 0.6786 0.3314 0.2458 0.3661 0.34 0.68 0.31 0.28 0.3597 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130342 NA NA 0.319419 0.266682 NA 0.254 NA 4.6654476 1185 1 240307389 240307389 C G intronic FMN2 NA NA NA ncRNA_exonic ENSG00000228818 NA NA NA Score=897;Name=lod=5865 NA 1q43 NA NA NA NA rs2355833 0.64 0.64 0.65 0.696685 0.668 0.5198 0.5922 0.9123 0.6912 0.66 0.46 0.58 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406507 NA NA NA NA ID=COSN163494;OCCURENCE=1(breast) 0.696 NA 4.6653333 1185 19 42558629 42558629 G A intronic GRIK5 NA NA NA intronic ENSG00000105737 NA NA NA NA NA 19q13.2 NA Name=Sin3Ak-20,Egr-1,E2F6,NRSF,E2F6_(H-50) NA NA rs3736109 0.09 0.09 0.07 0.0892572 0.1024 0.0962 0.1182 0.0098 0.1554 0.1 0.1 0.14 0.01 0.1181 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.703605 NA NA 0.114186 0.022696 NA 0.072 NA 4.665314 1185 19 39826597 39826597 A G intronic GMFG NA NA NA intronic ENSG00000130755 NA NA NA NA NA 19q13.2 NA Name=Pol2-4H8,ZBTB7A_(SC-34508),ETS1,TAF1,GABP,PU.1,Pol2 NA NA rs251905 0.17 0.17 0.166 0.184704 0.1123 0.0556 0.0994 0.4644 0.0746 0.11 0.06 0.11 0.44 0.1229 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310884 NA NA 0.099651 0.417385 NA 0.283 NA 4.665149 1185 19 40172637 40172637 G A ncRNA_splicing LGALS17A NR_034156:exon3:c.139-1G>A NA NA ncRNA_splicing ENSG00000226025 ENST00000455832:exon3:c.139-1G>A,ENST00000412609:exon3:c.139-1G>A,ENST00000598736:exon3:c.120-1G>A,ENST00000598304:exon2:c.43-1G>A,ENST00000598164:exon2:c.78-1G>A NA NA NA NA 19q13.2 NA NA NA NA rs10410370 0.03 0.03 0.042 0.0275559 0.001 NA 0.013 0.0968 NA 0.0013 NA 0.01 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08525 NA NA 0.000629 0.109104 NA 0.007 NA 4.6650376 1186 1 238655389 238655389 G T intergenic LOC339535,CHRM3 dist=6072;dist=1136984 NA NA ncRNA_exonic ENSG00000215149 NA NA NA Score=554;Name=lod=238 NA 1q43 NA NA NA NA rs2392862 0.22 0.22 0.214 0.199281 0.335 0.2034 0.2594 0.0514 0.2127 0.34 0.2 0.27 0.05 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223993 NA NA NA NA NA 0.319 NA 4.665 1186 7 88195330 88195330 G A intergenic STEAP4,ZNF804B dist=259102;dist=193423 NA NA ncRNA_exonic ENSG00000228928 NA NA NA Score=425;Name=lod=71 NA 7q21.12 NA NA NA NA rs6952109 0.27 0.27 0.264 0.304712 0.335 0.2282 0.304 0.1982 0.4969 0.33 0.21 0.29 0.23 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982227 NA NA NA NA NA 0.275 NA 4.665 1186 10 99125769 99125769 T C intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA Name=8 NA rs11189168 0.38 0.38 0.39 0.416733 0.335 0.3105 0.3501 0.5998 0.41 0.33 0.28 0.34 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158424 NA NA NA NA NA 0.341 NA 4.665 1186 2 98341728 98341728 C G intronic ZAP70 NA NA NA intronic ENSG00000115085 NA NA NA NA NA 2q11.2 NA NA Name=5 NA rs2289918 0.19 0.19 0.2 0.182508 0.1093 0.1438 0.1254 0.3805 0.0706 0.1 0.17 0.13 0.39 0.1208 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526413 NA NA 0.105233 0.33931 NA 0.181 NA 4.664667 1186 19 45434145 45434145 T C ncRNA_intronic APOC1P1 NA NA NA ncRNA_intronic ENSG00000214855 NA NA NA NA NA 19q13.32 NA NA NA NA rs192165948 0.0023 0.0023 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0026 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281474 NA NA NA NA NA NA NA 4.6646666 1186 9 123673890 123673890 G C intronic TRAF1 NA NA NA intronic ENSG00000056558 NA NA NA NA NA 9q33.2 NA Name=CTCF,Pol2-4H8 NA NA rs7021880 0.27 0.27 0.259 0.242013 0.336 0.2758 0.2839 0.1634 0.1871 0.33 0.28 0.27 0.17 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334807 NA NA NA NA NA 0.341 NA 4.664 1186 15 79023415 79023415 T C intergenic CHRNB4,LOC646938 dist=89828;dist=20964 NA NA ncRNA_exonic ENSG00000261303 NA NA NA Score=577;Name=lod=296 NA 15q25.1 NA NA NA NA rs34067845 0.19 0.19 0.179 0.185903 0.336 0.1002 0.1556 0.0673 0.3016 0.34 0.09 0.18 0.09 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.794794 NA NA NA NA NA 0.196 NA 4.664 1186 14 105609335 105609335 A G exonic JAG2 NA synonymous SNV JAG2:NM_145159:exon25:c.T3300C:p.I1100I,JAG2:NM_002226:exon26:c.T3414C:p.I1138I exonic ENSG00000184916 NA synonymous SNV ENSG00000184916:ENST00000347004:exon25:c.T3300C:p.I1100I,ENSG00000184916:ENST00000331782:exon26:c.T3414C:p.I1138I NA NA 14q32.33 Score=855;Name=V$SOX9_B1 NA NA NA rs10149229 0.69 0.69 0.718 0.689896 0.66 0.5337 0.6571 0.8941 0.6288 0.67 0.57 0.65 0.87 0.6666 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242386 NA NA 0.676415 0.846278 NA 0.616 NA 4.6636516 1186 12 62274139 62274139 A G intronic FAM19A2 NA NA NA ncRNA_exonic ENSG00000257528 NA NA NA Score=652;Name=lod=593 NA 12q14.1 NA NA NA NA rs7311950 0.75 0.75 0.731 0.772364 0.67 0.7917 0.7565 0.8343 0.7853 0.68 0.77 0.73 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013872 NA NA NA NA NA 0.775 NA 4.6633333 1186 1 246021941 246021941 T C exonic SMYD3 NA synonymous SNV SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A exonic ENSG00000185420 NA synonymous SNV ENSG00000185420:ENST00000391836:exon7:c.A366G:p.A122A,ENSG00000185420:ENST00000388985:exon10:c.A933G:p.A311A,ENSG00000185420:ENST00000490107:exon10:c.A756G:p.A252A,ENSG00000185420:ENST00000541742:exon10:c.A756G:p.A252A NA NA 1q44 Score=802;Name=V$COMP1_01 NA NA NA rs2362587 0.46 0.46 0.41 0.389377 0.7177 0.1925 0.5173 0.2224 0.3896 0.72 0.22 0.58 0.24 0.5672 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746372 NA NA 0.718488 0.289151 NA 0.42 NA 4.6632786 1186 11 36103228 36103228 A G exonic LDLRAD3 NA synonymous SNV LDLRAD3:NM_174902:exon3:c.A219G:p.P73P exonic ENSG00000179241 NA synonymous SNV ENSG00000179241:ENST00000524419:exon2:c.A72G:p.P24P,ENSG00000179241:ENST00000528989:exon2:c.A72G:p.P24P,ENSG00000179241:ENST00000315571:exon3:c.A219G:p.P73P NA NA 11p13 NA NA NA NA rs1138807 0.35 0.35 0.341 0.341054 0.3151 0.3522 0.402 0.41 0.2198 0.32 0.35 0.38 0.38 0.3511 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932554 NA NA 0.33725 0.388738 NA 0.457 NA 4.6632166 1186 19 1014398 1014398 A G exonic TMEM259 NA synonymous SNV TMEM259:NM_001033026:exon2:c.T300C:p.H100H,TMEM259:NM_033420:exon2:c.T300C:p.H100H exonic ENSG00000182087 NA synonymous SNV ENSG00000182087:ENST00000333175:exon2:c.T300C:p.H100H,ENSG00000182087:ENST00000356663:exon2:c.T300C:p.H100H Score=485;Name=lod=125 NA 19p13.3 NA NA NA NA rs7146 0.64 0.64 0.668 0.67512 0.6799 0.5308 0.5231 0.8154 0.7372 0.68 0.5 0.57 0.8 0.6579 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055416 NA NA 0.665969 0.794825 NA 0.717 NA 4.6628976 1186 19 3738649 3738649 A C exonic TJP3 NA synonymous SNV TJP3:NM_001267560:exon12:c.A1381C:p.R461R,TJP3:NM_001267561:exon12:c.A1408C:p.R470R exonic ENSG00000105289 NA synonymous SNV ENSG00000105289:ENST00000262968:exon11:c.A1480C:p.R494R,ENSG00000105289:ENST00000539908:exon11:c.A1273C:p.R425R,ENSG00000105289:ENST00000587686:exon11:c.A1438C:p.R480R,ENSG00000105289:ENST00000382008:exon12:c.A1423C:p.R475R,ENSG00000105289:ENST00000541714:exon12:c.A1381C:p.R461R,ENSG00000105289:ENST00000589378:exon12:c.A1408C:p.R470R Score=464;Name=lod=103 NA 19p13.3 NA NA NA NA rs599587 0.7 0.7 0.693 0.705272 0.665 0.6181 0.8098 0.7451 0.7086 0.65 0.67 0.79 0.74 0.6782 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291381 NA NA 0.660698 0.739219 NA 0.746 NA 4.6627686 1186 15 86287910 86287910 C T UTR3 AKAP13 NM_006738:c.*2C>T,NM_007200:c.*2C>T,NM_001270546:c.*2C>T NA NA ncRNA_exonic ENSG00000259407 NA NA NA NA NA 15q25.3 NA Name=Pol2 NA NA rs11073517 0.22 0.22 0.206 0.206669 0.2704 0.2153 0.317 0.1384 0.1462 0.27 0.16 0.28 0.17 0.2634 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.045376 2.045376 NA 0.303792 0.17257 NA 0.109 NA 4.662408 1186 19 49388654 49388654 C A intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA NA Name=2 NA rs3826818 0.18 0.18 0.192 0.185304 0.1004 0.1171 0.1066 0.3873 0.1258 0.11 0.14 0.12 0.38 0.1344 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082861 NA NA 0.102907 0.374716 NA 0.174 NA 4.662293 1186 5 157031881 157031881 C T intergenic ADAM19,SOX30 dist=29098;dist=20806 NA NA ncRNA_exonic ENSG00000254336 NA NA NA Score=678;Name=lod=756 NA 5q33.3 NA NA NA NA rs13358963 0.35 0.35 0.351 0.35643 0.338 0.1121 0.4207 0.6127 0.2352 0.33 0.11 0.42 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366123 NA NA NA NA NA 0.377 NA 4.662 1186 19 44977405 44977405 C T intergenic ZNF229,ZNF180 dist=24740;dist=2454 NA NA ncRNA_exonic ENSG00000176761 NA NA NA NA NA 19q13.31 NA NA Name=2 NA rs1897821 0.18 0.18 0.157 0.161342 0.338 0.004 0.1715 0.1437 0.1585 0.34 0.01 0.17 0.13 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761834 NA NA NA NA NA 0.246 NA 4.662 1186 18 44601611 44601611 A G intronic KATNAL2 NA NA NA intronic ENSG00000167216 NA NA NA NA NA 18q21.1 NA Name=Pol2,c-Jun,STAT3 Name=33 NA rs3816125 0.31 0.31 0.295 0.292133 0.4632 0.1766 0.2378 0.2307 0.3569 0.47 0.19 0.28 0.23 0.417 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.593359 NA NA 0.458013 0.278938 NA 0.341 NA 4.661787 1186 9 21278400 21278400 C T ncRNA_exonic IFNA22P NA NA NA ncRNA_exonic ENSG00000224416 NA NA NA NA NA 9p21.3 NA NA NA NA rs148310510 0.0041 0.0041 0.003 0.00359425 0.005 NA 0.0115 0.0015 0.0031 0.004 NA 0.01 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176548 NA NA NA NA NA NA NA 4.6616666 1186 11 113264470 113264470 A C exonic ANKK1 NA synonymous SNV ANKK1:NM_178510:exon2:c.A453C:p.I151I exonic ENSG00000170209 NA synonymous SNV ENSG00000170209:ENST00000303941:exon2:c.A453C:p.I151I Score=497;Name=lod=139 NA 11q23.2 NA NA NA NA rs4938013 0.67 0.67 0.676 0.660543 0.6799 0.5546 0.6095 0.8079 0.5869 0.68 0.58 0.62 0.8 0.6478 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723029 NA NA 0.677676 0.791531 NA 0.63 NA 4.6612906 1186 17 65714232 65714232 C G intronic NOL11 NA NA NA intronic ENSG00000130935 NA NA NA NA NA 17q24.2 NA Name=ETS1,Pol2,NFKB,Pol2(b),HA-E2F1,Pol2-4H8 NA NA rs3760224 0.14 0.14 0.14 0.118011 0.1213 0.1567 0.0965 0.1437 0.0552 0.13 0.16 0.09 0.18 0.1113 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75484 NA NA 0.106395 0.141852 ID=COSN165513;OCCURENCE=1(NS) 0.152 NA 4.661005 1186 12 52627568 52627568 A T intronic KRT7 NA NA NA intronic ENSG00000135480 NA NA NA NA NA 12q13.13 NA NA Name=13 NA rs36053378 0.26 0.26 0.237 0.258187 0.339 0.2837 0.33 0.1241 0.2791 0.33 0.26 0.31 0.13 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007225 NA NA NA NA NA 0.167 NA 4.661 1186 17 3533412 3533412 G A intronic SHPK NA NA NA intronic ENSG00000197417,ENSG00000262304 NA NA NA NA NA 17p13.2 Score=827;Name=V$ER_Q6 NA NA NA rs9913319 0.2 0.2 0.198 0.193091 0.339 0.002 0.1801 0.233 0.1953 0.34 NA 0.21 0.22 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803261 NA NA NA NA NA 0.261 NA 4.661 1186 4 57190242 57190242 T C intronic KIAA1211 NA NA NA intronic ENSG00000109265 NA NA NA NA NA 4q12 NA Name=Egr-1 NA NA rs2292983 0.22 0.22 0.211 0.21845 0.1044 0.4325 0.0951 0.2315 0.1851 0.1 0.45 0.11 0.24 0.1499 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887765 NA NA 0.084868 0.180441 NA 0.225 NA 4.660832 1186 8 12236101 12236101 G A ncRNA_intronic FAM66A NA NA NA ncRNA_intronic ENSG00000227888 NA NA NA NA NA 8p23.1 NA NA NA NA rs139689025 0.01 0.01 0.008 0.00439297 0.006 0.001 0.0014 0.0106 NA 0.01 0.0017 NA 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014844 NA NA NA NA NA NA NA 4.6606666 1186 7 130008159 130008159 A G intronic CPA5 NA NA NA intronic ENSG00000158525 NA NA NA NA NA 7q32.2 NA NA Name=3 NA rs2302823 0.36 0.36 0.312 0.357029 0.34 0.4177 0.4957 0.2995 0.2914 0.34 0.42 0.45 0.27 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.001781 NA NA NA NA NA 0.239 NA 4.66 1186 14 106800341 106800341 G T intergenic LINC00226,LINC00221 dist=55375;dist=138114 NA NA ncRNA_exonic ENSG00000253587 NA NA NA Score=333;Name=lod=30 NA 14q32.33 NA NA NA NA rs35061373 NA NA 0.298 0.484824 0.34 0.4177 0.3746 0.7216 0.4611 NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875125 NA NA NA NA ID=COSN393112;OCCURENCE=1(lung) 0.326 NA 4.66 1186 16 5132472 5132472 C T intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 Score=842;Name=V$OCT1_Q6 NA NA NA rs4786592 0.24 0.24 0.223 0.189297 0.34 0.1329 0.3372 0.0915 0.1196 0.35 0.14 0.36 0.11 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566097 NA NA NA NA ID=COSN165101;OCCURENCE=1(NS) 0.283 NA 4.66 1186 20 37570475 37570475 G A intronic FAM83D NA NA NA intronic ENSG00000101447 NA NA NA NA NA 20q11.23 NA Name=HNF4A,CTCF NA NA rs3752292 0.4 0.4 0.413 0.388179 0.34 0.4226 0.3818 0.4841 0.2771 0.35 0.36 0.37 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503245 NA NA NA NA NA 0.341 NA 4.66 1186 14 106866822 106866822 C G intergenic LINC00226,LINC00221 dist=121856;dist=71633 NA NA exonic ENSG00000211958 NA nonsynonymous SNV ENSG00000211958:ENST00000390618:exon1:c.G35C:p.G12A NA NA 14q32.33 NA NA NA NA rs113233536 NA NA 0.162 NA NA NA NA NA NA NA NA NA NA 0.1735 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.971825 NA 1 NA NA NA 0.123 NA 4.6598334 1186 14 106866668 106866668 C A intergenic LINC00226,LINC00221 dist=121702;dist=71787 NA NA exonic ENSG00000211958 NA nonsynonymous SNV ENSG00000211958:ENST00000390618:exon2:c.G86T:p.G29V NA NA 14q32.33 NA NA NA NA rs112298109 NA NA 0.096 NA NA NA NA NA NA NA NA NA NA 0.174 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230651 NA 0.02 NA NA ID=COSN229346;OCCURENCE=2(skin) NA NA 4.6593334 1186 12 8023500 8023500 A G intronic SLC2A14 NA NA NA ncRNA_exonic ENSG00000255885 NA NA NA Score=750;Name=lod=1496 NA 12p13.31 NA NA NA NA rs12372273 0.77 0.77 0.76 0.76877 0.674 0.9623 0.7392 0.7179 0.7566 0.69 0.97 0.71 0.71 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120007 NA NA NA NA NA 0.783 NA 4.6593333 1186 7 1132505 1132505 G A UTR3 GPER NM_001505:c.*13G>A,NM_001039966:c.*13G>A,NM_001098201:c.*13G>A NA NA UTR3 ENSG00000164850 ENST00000401670:c.*13G>A,ENST00000397092:c.*13G>A,ENST00000297469:c.*13G>A,ENST00000397088:c.*13G>A NA NA NA NA 7p22.3 NA NA Name=10 NA rs2070118 0.14 0.14 0.138 0.128994 0.2028 0.0198 0.2104 0.0673 0.1912 0.22 0.02 0.19 0.11 0.2314 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168788 NA NA 0.239995 0.088516 NA 0.203 NA 4.6591384 1186 21 35896032 35896032 A G intronic RCAN1 NA NA NA UTR5 ENSG00000159200 ENST00000482533:c.-177T>C NA NA NA NA 21q22.12 NA NA Name=3 NA rs6517239 0.14 0.14 0.142 0.172125 0.1779 0.1379 0.1297 0.1369 0.2791 0.17 0.12 0.11 0.16 0.1683 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24913 1.24913 NA 0.161744 0.152519 NA 0.109 NA 4.6587227 1186 3 153741637 153741637 A C downstream ARHGEF26-AS1 NA NA NA ncRNA_exonic ENSG00000240068 NA NA NA Score=726;Name=lod=1190 NA 3q25.2 NA NA NA NA rs7611942 0.42 0.42 0.424 0.405551 0.508 0.2738 0.4092 0.4682 0.3487 0.51 0.27 0.4 0.46 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681116 NA NA NA NA NA 0.493 NA 4.6586666 1186 2 171916495 171916495 C A intronic TLK1 NA NA NA exonic ENSG00000198586 NA synonymous SNV ENSG00000198586:ENST00000453628:exon3:c.G120T:p.G40G,ENSG00000198586:ENST00000360843:exon5:c.G408T:p.G136G NA NA 2q31.1 NA NA NA NA rs3821087 0.05 0.05 0.041 0.0599042 0.0487 0.1002 0.0447 0.0008 0.1207 0.05 0.09 0.04 NA 0.0634 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065586 NA NA 0.062783 0.013699 NA 0.029 NA 4.6584503 1186 12 8023598 8023598 A T intronic SLC2A14 NA NA NA ncRNA_exonic ENSG00000255885 NA NA NA Score=750;Name=lod=1496 NA 12p13.31 NA NA NA NA rs12372284 0.77 0.77 0.763 0.769169 0.675 0.9623 0.7392 0.7186 0.7566 0.69 0.97 0.71 0.71 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.258757 NA NA NA NA NA 0.768 NA 4.6583333 1186 15 78189206 78189206 C T intergenic LOC253044,LOC645752 dist=247625;dist=17353 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=346;Name=lod=34 NA 15q24.3 NA NA NA NA rs4886959 0.23 0.23 0.224 0.189696 0.3419 0.1478 0.2522 0.0772 0.184 0.34 0.16 0.28 0.1 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099793 NA NA NA NA NA 0.232 NA 4.6581 1186 6 139208118 139208118 T G intronic ECT2L NA NA NA intronic ENSG00000203734 NA NA NA NA NA 6q24.1 NA NA Name=2 NA rs7764840 0.24 0.24 0.232 0.245807 0.159 0.253 0.1311 0.466 0.1115 0.16 0.26 0.14 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587794 NA NA 0.182904 0.37789 NA 0.239 NA 4.658096 1186 7 93544393 93544393 A G intergenic GNGT1,GNG11 dist=3908;dist=6623 NA NA intergenic ENSG00000127928,ENSG00000127920 dist=3816;dist=6618 NA NA Score=573;Name=lod=283 NA 7q21.3 NA Name=p300,CEBPB,c-Fos,AP-2gamma NA NA rs180258 0.64 0.64 0.623 0.607827 0.6759 0.7401 0.6254 0.4622 0.5859 0.67 0.77 0.63 0.45 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087706 NA NA NA NA NA 0.717 NA 4.6574334 1186 4 141600320 141600320 A G exonic TBC1D9 NA synonymous SNV TBC1D9:NM_015130:exon5:c.T627C:p.L209L exonic ENSG00000109436 NA synonymous SNV ENSG00000109436:ENST00000442267:exon5:c.T627C:p.L209L NA NA 4q31.21 Score=797;Name=V$BACH1_01 NA NA NA rs4956329 0.65 0.65 0.635 0.634984 0.668 0.5655 0.6124 0.6884 0.6166 0.68 0.59 0.62 0.68 0.6622 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072451 NA NA 0.679124 0.695355 NA 0.71 NA 4.6573426 1186 16 20441084 20441084 T C exonic ACSM5 NA synonymous SNV ACSM5:NM_017888:exon8:c.T1086C:p.T362T exonic ENSG00000183549 NA synonymous SNV ENSG00000183549:ENST00000331849:exon8:c.T1086C:p.T362T NA NA 16p12.3 NA NA NA NA rs8063682 0.5 0.5 0.53 0.542532 0.3211 0.755 0.2867 0.7428 0.4622 0.33 0.73 0.3 0.65 0.3702 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.234687 NA NA 0.318171 0.663867 NA 0.645 NA 4.6571956 1186 7 65579987 65579987 C G intronic CRCP NA NA NA intronic ENSG00000241258,ENSG00000249319 NA NA NA NA NA 7q11.21 NA Name=HEY1,Pol2(b),HA-E2F1,Pol2-4H8,Oct-2,CHD2_(N-1250),CTCF,POU2F2,E2F4,YY1_(C-20),E2F6,Pol2,Pol2(phosphoS2),TCF4 NA NA rs160639 0.12 0.12 0.073 0.139377 0.1054 0.1498 0.2133 0.0688 0.2065 0.09 0.18 0.18 0.05 0.128 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473413 NA NA 0.109419 0.057422 NA 0.196 NA 4.657181 1186 10 26312824 26312824 G A intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 Score=868;Name=V$STAT5B_01 NA NA NA rs1339814 0.29 0.29 0.277 0.301318 0.3429 0.2857 0.2406 0.2186 0.4294 0.35 0.28 0.23 0.23 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375644 NA NA NA NA NA 0.225 NA 4.6571 1186 14 57507913 57507913 G T intergenic OTX2-AS1,EXOC5 dist=110363;dist=161281 NA NA ncRNA_exonic ENSG00000258758 NA NA NA Score=446;Name=lod=87 NA 14q22.3 NA NA NA NA rs1886011 0.31 0.31 0.281 0.327875 0.3429 0.3681 0.4712 0.1104 0.4632 0.34 0.33 0.45 0.12 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474235 1.474235 NA NA NA NA 0.29 NA 4.6571 1186 3 10885920 10885920 T C exonic SLC6A11 NA synonymous SNV SLC6A11:NM_014229:exon5:c.T645C:p.S215S exonic ENSG00000132164 NA synonymous SNV ENSG00000132164:ENST00000254488:exon5:c.T645C:p.S215S NA NA 3p25.3 NA NA NA NA rs2304725 0.34 0.34 0.329 0.374201 0.325 0.4276 0.2161 0.3011 0.5808 0.35 0.41 0.23 0.3 0.3482 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828454 NA NA 0.336395 0.310713 ID=COSM1178477;OCCURENCE=1(prostate) 0.304 NA 4.6570716 1186 19 55142739 55142739 A C exonic LILRB1 NA synonymous SNV LILRB1:NM_001081637:exon3:c.A52C:p.R18R,LILRB1:NM_001081638:exon3:c.A52C:p.R18R,LILRB1:NM_001081639:exon3:c.A52C:p.R18R,LILRB1:NM_006669:exon4:c.A52C:p.R18R exonic ENSG00000104972 NA synonymous SNV ENSG00000104972:ENST00000396315:exon2:c.A52C:p.R18R,ENSG00000104972:ENST00000396317:exon2:c.A52C:p.R18R,ENSG00000104972:ENST00000421584:exon2:c.A52C:p.R18R,ENSG00000104972:ENST00000427581:exon2:c.A160C:p.R54R,ENSG00000104972:ENST00000324602:exon3:c.A52C:p.R18R,ENSG00000104972:ENST00000396327:exon3:c.A52C:p.R18R,ENSG00000104972:ENST00000396332:exon3:c.A52C:p.R18R,ENSG00000104972:ENST00000434867:exon3:c.A52C:p.R18R,ENSG00000104972:ENST00000396331:exon4:c.A52C:p.R18R NA NA 19q13.42 NA NA NA NA rs1985501 0.46 0.46 0.357 0.450679 0.3032 0.5982 0.4841 0.5537 0.2873 0.3 0.59 0.45 0.57 0.3867 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067353 NA NA 0.319726 0.513845 NA 0.507 NA 4.6570406 1186 7 158527051 158527051 T C intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA Name=CTCF NA NA rs3750052 0.35 0.35 0.332 0.366613 0.175 0.6091 0.2622 0.4455 0.2812 0.18 0.58 0.25 0.43 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748242 NA NA 0.168762 0.374277 NA 0.246 NA 4.656238 1186 1 3786189 3786189 G A exonic DFFB NA synonymous SNV DFFB:NM_004402:exon5:c.G531A:p.T177T exonic ENSG00000169598 NA synonymous SNV ENSG00000169598:ENST00000338895:exon5:c.G531A:p.T177T,ENSG00000169598:ENST00000378209:exon5:c.G531A:p.T177T,ENSG00000169598:ENST00000491998:exon5:c.G531A:p.T177T NA NA 1p36.32 NA NA NA NA rs1141070 0.23 0.23 0.222 0.214257 0.3459 0.1349 0.2277 0.1354 0.2577 0.36 0.12 0.25 0.15 0.2939 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536515 NA NA 0.370698 0.182251 NA 0.225 NA 4.6561686 1186 12 94976159 94976159 T C exonic TMCC3 NA synonymous SNV TMCC3:NM_020698:exon2:c.A234G:p.V78V exonic ENSG00000057704 NA synonymous SNV ENSG00000057704:ENST00000261226:exon2:c.A234G:p.V78V,ENSG00000057704:ENST00000548918:exon2:c.A141G:p.V47V,ENSG00000057704:ENST00000551457:exon2:c.A141G:p.V47V NA NA 12q22 NA NA NA NA rs3747551 0.33 0.33 0.302 0.326278 0.3231 0.3522 0.4092 0.2421 0.3579 0.3 0.36 0.43 0.27 0.3458 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862153 NA NA 0.341628 0.2601 NA 0.312 NA 4.6561386 1186 7 2309355 2309355 G A intronic SNX8 NA NA NA intronic ENSG00000106266 NA NA NA NA NA 7p22.3 NA NA Name=58 NA rs6947645 0.33 0.33 0.368 0.332867 0.3439 0.1954 0.2363 0.525 0.272 0.36 0.19 0.24 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367197 NA NA NA NA NA 0.319 NA 4.6561 1186 22 16870890 16870890 C T intergenic OR11H1,CCT8L2 dist=421086;dist=200758 NA NA ncRNA_exonic ENSG00000225293 NA NA NA Score=676;Name=lod=743 NA 22q11.1 NA NA NA NA rs131536 0.23 0.23 0.151 0.273163 0.3439 0.3661 0.3329 0.0825 0.32 0.26 0.29 0.27 0.09 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364797 NA NA NA NA NA NA NA 4.6561 1186 19 40172017 40172017 G A ncRNA_intronic LGALS17A NA NA NA ncRNA_intronic ENSG00000226025 NA NA NA NA NA 19q13.2 NA NA NA NA rs28457128 0.05 0.05 0.038 0.0391374 0.006 0.001 0.0231 0.1309 NA 0.01 NA 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426626 NA NA 0.004714 0.128613 NA 0.022 NA 4.6559526 1186 1 14105298 14105298 G A exonic PRDM2 NA synonymous SNV PRDM2:NM_001007257:exon3:c.G405A:p.E135E,PRDM2:NM_012231:exon8:c.G1008A:p.E336E,PRDM2:NM_015866:exon8:c.G1008A:p.E336E exonic ENSG00000116731 NA synonymous SNV ENSG00000116731:ENST00000413440:exon3:c.G405A:p.E135E,ENSG00000116731:ENST00000343137:exon4:c.G405A:p.E135E,ENSG00000116731:ENST00000235372:exon8:c.G1008A:p.E336E,ENSG00000116731:ENST00000311066:exon8:c.G1008A:p.E336E NA NA 1p36.21 NA NA NA NA rs1203678 0.34 0.34 0.297 0.316294 0.3101 0.373 0.5389 0.2012 0.2618 0.3 0.41 0.51 0.19 0.356 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.21336 NA NA 0.344651 0.243532 NA 0.341 NA 4.6559156 1186 16 2138422 2138422 C G intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs13332222 0.19 0.19 0.184 0.200879 0.1183 NA 0.1527 0.5756 0.0204 0.12 NA 0.18 0.53 0.121 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717084 NA NA 0.104933 0.478389 NA 0.29 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome;CLNREVSTAT=not;CLNACC=RCV000043243.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1220:C0041341:191100:7199000 4.655767 1186 7 76984572 76984572 G A exonic GSAP NA synonymous SNV GSAP:NM_017439:exon16:c.C1296T:p.C432C exonic ENSG00000186088 NA synonymous SNV ENSG00000186088:ENST00000257626:exon16:c.C1296T:p.C432C NA NA 7q11.23 NA NA NA NA rs2037753 0.49 0.49 0.465 0.531949 0.2962 0.504 0.4798 0.8253 0.4438 0.31 0.46 0.48 0.81 0.3974 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33014 NA NA 0.317326 0.738765 NA 0.435 NA 4.6557406 1186 2 110942816 110942816 G C intronic NPHP1 NA NA NA intronic ENSG00000144061 NA NA NA Score=417;Name=lod=66 NA 2q13 NA NA NA NA rs1810096 0.51 0.51 0.516 0.52496 0.3449 0.5942 0.415 0.6581 0.5368 0.33 0.58 0.48 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687558 NA NA NA NA NA 0.449 NA 4.6551 1186 6 7506622 7506622 G A intergenic RIOK1,DSP dist=88352;dist=35248 NA NA ncRNA_exonic ENSG00000219993 NA NA NA Score=699;Name=lod=926 NA 6p24.3 NA NA NA NA rs2763132 0.28 0.28 0.277 0.282748 0.3449 0.1885 0.3573 0.1982 0.3773 0.36 0.22 0.37 0.18 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064315 NA NA NA NA NA 0.232 NA 4.6551 1186 22 16871080 16871080 C A intergenic OR11H1,CCT8L2 dist=421276;dist=200568 NA NA ncRNA_intronic ENSG00000225293 NA NA NA Score=676;Name=lod=743 NA 22q11.1 NA NA NA NA rs140374 0.27 0.27 0.21 0.273363 0.3449 0.3681 0.3329 0.0809 0.32 0.3 0.34 0.33 0.1 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74087 NA NA NA NA NA NA NA 4.6551 1187 1 51873951 51873951 G A exonic EPS15 NA synonymous SNV EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y exonic ENSG00000085832 NA synonymous SNV ENSG00000085832:ENST00000396122:exon4:c.C360T:p.Y120Y,ENSG00000085832:ENST00000371733:exon15:c.C1329T:p.Y443Y Score=640;Name=lod=534 NA 1p32.3 NA NA NA NA rs1065754 0.8 0.8 0.801 0.822684 0.6223 0.9921 0.7622 0.8941 0.8006 0.65 0.99 0.74 0.86 0.7347 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951701 NA NA 0.654767 0.874716 NA 0.906 NA 4.6548996 1187 4 88814207 88814207 G A intergenic MEPE,SPP1 dist=46239;dist=82595 NA NA ncRNA_exonic ENSG00000183199 NA NA NA Score=669;Name=lod=698 NA 4q22.1 NA NA NA NA rs3811820 0.21 0.21 0.199 0.196486 0.1759 0.3105 0.2061 0.1626 0.1391 0.17 0.32 0.19 0.16 0.1695 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441109 NA NA NA NA ID=COSN167270;OCCURENCE=2(large_intestine) 0.138 NA 4.6546 1187 2 201502898 201502898 G A intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA Name=5 NA rs2470900 0.19 0.19 0.188 0.192891 0.1064 0.4405 0.1772 0.0499 0.2311 0.11 0.44 0.15 0.06 0.146 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766065 NA NA 0.093372 0.066954 NA 0.246 NA 4.654228 1187 7 36698684 36698684 C T intronic AOAH NA NA NA intronic ENSG00000136250 NA NA NA NA NA 7p14.2 NA Name=CEBPB NA NA rs6959295 0.34 0.34 0.343 0.356829 0.3459 0.4296 0.2939 0.2655 0.4611 0.36 0.42 0.27 0.27 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124558 NA NA NA NA NA 0.319 NA 4.6541 1187 17 3786907 3786907 G A intronic CAMKK1 NA NA NA intronic ENSG00000004660 NA NA NA NA Name=Smoking behavior 17p13.2 NA NA NA NA rs758642 0.3 0.3 0.296 0.298922 0.3459 0.1349 0.3573 0.3623 0.2924 0.34 0.15 0.4 0.33 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424474 NA NA NA NA NA 0.5 NA 4.6541 1187 7 29690677 29690677 G A ncRNA_exonic LOC646762 NA NA NA ncRNA_exonic ENSG00000225264 NA NA NA NA NA 7p14.3 NA NA NA NA rs117145942 0.01 0.01 0.002 0.00519169 0.0129 NA 0.0086 0.0023 0.0041 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577193 NA NA NA NA NA 0.007 NA 4.6537666 1187 2 203806724 203806724 C T intronic ALS2CR8 NA NA NA intronic ENSG00000138380 NA NA NA NA NA 2q33.2 NA NA Name=36 NA rs75869289 0.07 0.07 0.065 0.0471246 0.1302 0.0159 0.0749 0.0174 0.0143 0.14 0.02 0.09 0.02 0.0909 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8719 NA NA 0.125183 0.034152 NA 0.036 NA 4.653717 1187 2 210044808 210044808 A G intergenic PTH2R,MAP2 dist=685577;dist=243963 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=748;Name=lod=1467 NA 2q34 NA NA NA NA rs6727838 0.34 0.34 0.339 0.315096 0.3469 0.4087 0.2882 0.2648 0.273 0.36 0.39 0.27 0.28 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407594 NA NA NA NA NA 0.283 NA 4.6531 1187 2 210045229 210045229 A G intergenic PTH2R,MAP2 dist=685998;dist=243542 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=689;Name=lod=839 NA 2q34 NA NA NA NA rs4332863 0.34 0.34 0.351 0.316893 0.3469 0.4087 0.2896 0.2648 0.2812 0.36 0.39 0.27 0.28 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117517 NA NA NA NA NA 0.283 NA 4.6531 1187 2 210045293 210045293 T C intergenic PTH2R,MAP2 dist=686062;dist=243478 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=689;Name=lod=839 NA 2q34 NA NA NA NA rs6435517 0.34 0.34 0.329 0.316893 0.3469 0.4087 0.2896 0.2648 0.2812 0.36 0.39 0.27 0.28 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.849591 1.849591 NA NA NA NA 0.275 NA 4.6531 1187 2 210045844 210045844 A G intergenic PTH2R,MAP2 dist=686613;dist=242927 NA NA ncRNA_exonic ENSG00000229670 NA NA NA Score=444;Name=lod=85 NA 2q34 NA NA NA NA rs1837431 0.34 0.34 0.357 0.316893 0.3469 0.4087 0.2896 0.2648 0.2812 0.36 0.39 0.27 0.28 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160379 NA NA NA NA NA 0.283 NA 4.6531 1187 3 53891097 53891097 C G intronic IL17RB NA NA NA intronic ENSG00000056736 NA NA NA NA NA 3p21.1 NA NA Name=3 NA rs2276840 0.39 0.39 0.416 0.387979 0.3469 0.4643 0.2997 0.4236 0.3661 0.33 0.51 0.33 0.41 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814734 NA NA NA NA NA 0.428 NA 4.6531 1187 4 3024044 3024044 C T intronic GRK4 NA NA NA intronic ENSG00000125388 NA NA NA NA NA 4p16.3 NA NA Name=3 NA rs2471325 0.25 0.25 0.229 0.222045 0.3469 0.0962 0.2911 0.2421 0.1472 0.35 0.1 0.31 0.25 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385802 NA NA NA NA NA 0.159 NA 4.6531 1187 5 23304211 23304211 G T intergenic CDH12,PRDM9 dist=450480;dist=203513 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=589;Name=lod=329 NA 5p14.2 NA NA NA NA rs12697620 0.42 0.42 0.438 0.507987 0.3469 0.2857 0.3833 0.8306 0.5552 0.33 0.27 0.36 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156945 NA NA NA NA NA 0.478 NA 4.6531 1187 5 23304724 23304724 G C intergenic CDH12,PRDM9 dist=450993;dist=203000 NA NA ncRNA_exonic ENSG00000250332 NA NA NA Score=608;Name=lod=394 NA 5p14.2 NA NA NA NA rs10072437 0.38 0.38 0.357 0.460264 0.3469 0.2857 0.3718 0.6558 0.5552 0.33 0.27 0.35 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147689 NA NA NA NA NA 0.42 NA 4.6531 1187 10 13100441 13100441 A C intergenic CCDC3,OPTN dist=56737;dist=41641 NA NA ncRNA_exonic ENSG00000225251 NA NA NA Score=779;Name=lod=1950 NA 10p13 NA NA NA NA rs622491 0.33 0.33 0.318 0.284345 0.3469 0.126 0.3487 0.4092 0.1687 0.36 0.14 0.41 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23605 NA NA NA NA NA 0.333 NA 4.6531 1187 12 27234505 27234505 A T intronic C12orf71 NA NA NA intronic ENSG00000214700 NA NA NA NA NA 12p11.23 NA Name=STAT3,CTCF NA NA rs34457591 0.52 0.52 0.474 0.521166 0.3469 0.8591 0.6009 0.32 0.5675 0.35 0.85 0.59 0.33 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190612 NA NA NA NA NA 0.42 NA 4.6531 1187 11 57971195 57971195 G A exonic OR1S2 NA synonymous SNV OR1S2:NM_001004459:exon1:c.C459T:p.F153F exonic ENSG00000197887 NA synonymous SNV ENSG00000197887:ENST00000302592:exon1:c.C459T:p.F153F NA NA 11q12.1 NA NA NA NA rs11229279 0.41 0.41 0.393 0.426717 0.3161 0.752 0.3876 0.2239 0.5072 0.31 0.71 0.38 0.23 0.3712 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.662206 NA NA 0.32635 0.248978 ID=COSM147238;OCCURENCE=1(stomach) 0.377 NA 4.6530166 1187 16 70016573 70016573 G A ncRNA_exonic PDXDC2P NA NA NA exonic ENSG00000226232 NA nonsynonymous SNV ENSG00000226232:ENST00000532298:exon3:c.C337T:p.R113C,ENSG00000226232:ENST00000325845:exon22:c.C292T:p.R98C NA NA 16q22.1 NA NA NA NA rs3748384 0.47 0.47 0.5 0.556709 0.3837 0.8869 0.428 0.4546 0.6237 0.35 0.75 0.43 0.39 0.4633 0.75 0.06 T 0.02 B 0.016 B . . . . . . 0.88 T -1.001 T 0.000 T 0.205 -0.264 2.732 -1.01 -0.254 -0.614 . -0.264143 NA 0.28 NA NA NA NA NA 4.653 1187 12 129429075 129429075 C T intronic GLT1D1 NA NA NA ncRNA_exonic ENSG00000255838 NA NA NA Score=551;Name=lod=231 NA 12q24.33 NA NA NA NA rs470404 0.64 0.64 0.597 0.654752 0.6809 0.7659 0.7824 0.3676 0.8108 0.66 0.77 0.77 0.36 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852133 NA NA NA NA NA 0.71 NA 4.6524333 1187 2 17466012 17466012 T C intergenic FAM49A,RAD51AP2 dist=618878;dist=225974 NA NA ncRNA_exonic ENSG00000214843 NA NA NA Score=682;Name=lod=786 NA 2p24.2 NA NA NA NA rs1976809 0.33 0.33 0.336 0.374002 0.3479 0.0565 0.2262 0.6384 0.4755 0.34 0.06 0.24 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504417 NA NA NA NA NA 0.384 NA 4.6521 1187 3 148703787 148703787 T G intergenic CPA3,GYG1 dist=88915;dist=5408 NA NA ncRNA_exonic ENSG00000241627 NA NA NA Score=646;Name=lod=565 NA 3q24 NA NA NA NA rs3732559 0.43 0.43 0.453 0.416933 0.3479 0.3641 0.3429 0.677 0.2434 0.33 0.36 0.36 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.703335 NA NA NA NA NA 0.304 NA 4.6521 1187 6 7517131 7517131 A T intergenic RIOK1,DSP dist=98861;dist=24739 NA NA ncRNA_exonic ENSG00000234115 NA NA NA Score=578;Name=lod=297 NA 6p24.3 NA NA NA NA rs2798162 0.28 0.28 0.266 0.273962 0.3479 0.1855 0.3588 0.1641 0.3773 0.36 0.22 0.37 0.16 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258798 NA NA NA NA NA 0.246 NA 4.6521 1187 7 57128425 57128425 G A intergenic MIR4283-1,ZNF479 dist=104854;dist=58901 NA NA ncRNA_exonic ENSG00000229508 NA NA NA Score=658;Name=lod=630 NA 7p11.2 NA NA NA NA rs9719133 0.32 0.32 0.25 0.339058 0.3479 0.3978 0.3919 0.2496 0.3528 0.31 0.35 0.38 0.25 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04074 NA NA NA NA NA NA NA 4.6521 1187 16 32857329 32857329 A C intergenic TP53TG3,SLC6A10P dist=169881;dist=31468 NA NA ncRNA_exonic ENSG00000259934 NA NA NA Score=651;Name=lod=590 NA 16p11.2 NA NA NA NA rs689734 0.3 0.3 0.293 0.39377 0.3479 0.3502 0.2738 0.4879 0.4438 0.25 0.28 0.26 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036081 NA NA NA NA NA 0.094 NA 4.6521 1187 16 78082517 78082517 C T intergenic CLEC3A,WWOX dist=16516;dist=50810 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=505;Name=lod=151 NA 16q23.1 NA NA NA NA rs12919316 0.24 0.24 0.215 0.208067 0.3479 0.1984 0.2161 0.0628 0.2648 0.37 0.2 0.25 0.08 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006381 NA NA NA NA NA 0.145 NA 4.6521 1187 19 38282540 38282540 G C intergenic ZNF573,LOC644554 dist=12310;dist=25511 NA NA ncRNA_exonic ENSG00000267422 NA NA NA Score=766;Name=lod=1722 NA 19q13.12 NA NA NA NA rs112894371 0.2 0.2 0.168 0.189696 0.3479 0.0298 0.2579 0.0923 0.2751 0.35 0.04 0.26 0.09 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.023105 2.023105 NA NA NA NA 0.283 NA 4.6521 1187 22 42059768 42059768 G T exonic XRCC6 NA synonymous SNV XRCC6:NM_001469:exon13:c.G1779T:p.G593G exonic ENSG00000196419 NA synonymous SNV ENSG00000196419:ENST00000405506:exon11:c.G1629T:p.G543G,ENSG00000196419:ENST00000359308:exon12:c.G1779T:p.G593G,ENSG00000196419:ENST00000428575:exon12:c.G1380T:p.G460G,ENSG00000196419:ENST00000360079:exon13:c.G1779T:p.G593G,ENSG00000196419:ENST00000402580:exon13:c.G1656T:p.G552G,ENSG00000196419:ENST00000405878:exon13:c.G1779T:p.G593G NA NA 22q13.2 NA NA NA NA rs132788 0.24 0.24 0.197 0.209065 0.3628 0.2331 0.2089 0.034 0.2628 0.38 0.25 0.23 0.04 0.2935 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574142 NA NA 0.358372 0.09192 NA 0.196 NA 4.6519946 1187 4 119736796 119736796 A C exonic SEC24D NA synonymous SNV SEC24D:NM_014822:exon5:c.T483G:p.P161P exonic ENSG00000150961 NA nonsynonymous SNV ENSG00000150961:ENST00000509818:exon4:c.T334G:p.F112V,ENSG00000150961:ENST00000506622:exon6:c.T590G:p.L197R NA NA 4q26 NA NA NA NA rs2389688 0.43 0.43 0.388 0.436901 0.4354 0.5506 0.5807 0.2436 0.4806 0.43 0.53 0.55 0.23 0.4624 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052721 NA 0 0.450581 0.291194 ID=COSM1131292;OCCURENCE=1(prostate) 0.435 NA 4.651619 1187 17 71239087 71239087 G T exonic C17orf80 NA synonymous SNV C17orf80:NM_001100621:exon4:c.G1566T:p.T522T,C17orf80:NM_001100622:exon5:c.G1674T:p.T558T,C17orf80:NM_017941:exon5:c.G1674T:p.T558T exonic ENSG00000141219 NA synonymous SNV ENSG00000141219:ENST00000582793:exon3:c.G81T:p.T27T,ENSG00000141219:ENST00000255557:exon4:c.G1566T:p.T522T,ENSG00000141219:ENST00000268942:exon4:c.G1566T:p.T522T,ENSG00000141219:ENST00000535032:exon4:c.G1674T:p.T558T,ENSG00000141219:ENST00000577615:exon4:c.G1566T:p.T522T,ENSG00000141219:ENST00000359042:exon5:c.G1674T:p.T558T,ENSG00000141219:ENST00000426147:exon5:c.G1674T:p.T558T NA NA 17q25.1 NA NA NA NA rs1566290 0.23 0.23 0.208 0.220248 0.331 0.1558 0.3761 0.0408 0.3047 0.35 0.15 0.36 0.05 0.3192 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212426 NA NA 0.364884 0.09419 ID=COSM148332;OCCURENCE=1(stomach) 0.225 NA 4.6515826 1187 4 144682752 144682752 A G intergenic FREM3,GYPE dist=60924;dist=109267 NA NA ncRNA_exonic ENSG00000250345 NA NA NA Score=584;Name=lod=316 NA 4q31.21 NA NA NA NA rs10857411 0.3 0.3 0.249 0.30651 0.3489 0.2222 0.4092 0.2738 0.3211 0.33 0.22 0.42 0.26 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084984 NA NA NA NA NA 0.304 NA 4.6511 1187 5 145427527 145427527 T A intronic SH3RF2 NA NA NA intronic ENSG00000156463 NA NA NA NA NA 5q32 NA NA Name=2 NA rs1859895 0.3 0.3 0.281 0.292332 0.3489 0.2798 0.3847 0.261 0.2239 0.33 0.29 0.36 0.23 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201529 NA NA NA NA NA 0.37 NA 4.6511 1187 15 25230147 25230147 A G ncRNA_exonic PAR5 NA NA NA ncRNA_exonic ENSG00000270704 NA NA NA NA NA 15q11.2 NA NA NA NA rs112097055 0.02 0.02 0.016 0.0235623 0.0159 NA 0.0101 0.0461 0.0348 0.02 NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142298 NA NA NA NA NA NA NA 4.6507666 1187 19 41444875 41444875 A G ncRNA_exonic CYP2B7P1 NA NA NA ncRNA_exonic ENSG00000256612 NA NA NA NA NA 19q13.2 NA NA NA NA rs8112176 0.04 0.04 0.028 0.0397364 NA NA 0.0231 0.1384 NA NA 0.0017 0.03 0.13 0.0165 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411909 1.411909 NA NA NA NA 0.036 NA 4.6501666 1187 7 138089192 138089192 T G intergenic MIR4468,TRIM24 dist=280625;dist=55887 NA NA ncRNA_exonic ENSG00000213237 NA NA NA Score=343;Name=lod=33 NA 7q33 NA NA NA NA rs10245726 0.33 0.33 0.339 0.35004 0.3499 0.0843 0.2565 0.6278 0.3149 0.35 0.08 0.3 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30817 NA NA NA NA NA 0.37 NA 4.6501 1187 6 29718869 29718869 C T ncRNA_exonic IFITM4P NA NA NA ncRNA_exonic ENSG00000235821 NA NA NA NA NA 6p22.1 NA NA NA NA rs56304249 0.01 0.01 NA 0.00678914 0.0169 NA 0.0144 0.0015 0.0051 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988818 NA NA NA NA NA 0.065 NA 4.6497666 1187 7 94038966 94038966 G A intronic COL1A2 NA NA NA intronic ENSG00000164692 NA NA NA NA NA 7q21.3 NA Name=Pol2 NA NA rs28754326 0.13 0.13 0.145 0.129792 0.1312 0.0446 0.1182 0.27 0.0348 0.12 0.06 0.13 0.24 0.1056 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827512 NA NA 0.113605 0.249887 NA 0.123 NA 4.649595 1187 2 153378459 153378459 T C exonic FMNL2 NA synonymous SNV FMNL2:NM_052905:exon2:c.T120C:p.N40N exonic ENSG00000157827 NA synonymous SNV ENSG00000157827:ENST00000288670:exon2:c.T120C:p.N40N Score=649;Name=lod=577 NA 2q23.3 NA NA NA NA rs4664114 0.7 0.7 0.685 0.690695 0.673 0.751 0.7723 0.6377 0.6605 0.67 0.74 0.72 0.68 0.684 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.248318 2.248318 NA 0.660162 0.641221 NA 0.594 NA 4.6495046 1187 15 55710365 55710365 T C ncRNA_intronic DYX1C1-CCPG1 NA NA NA ncRNA_intronic ENSG00000261771 NA NA NA NA NA 15q21.3 NA NA Name=2 NA rs56070549 0.19 0.19 0.147 0.159545 0.3787 0.0575 0.2032 0.0348 0.1769 0.37 0.06 0.21 0.04 0.2938 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243793 NA NA 0.344711 0.084131 NA 0.174 NA 4.6494556 1187 14 68888659 68888659 T C intronic RAD51B NA NA NA ncRNA_exonic ENSG00000258477 NA NA NA Score=662;Name=lod=655 NA 14q24.1 NA NA NA NA rs10747299 0.85 0.85 0.84 0.841853 0.6839 0.9673 0.8458 0.9395 0.7403 0.69 0.98 0.83 0.95 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829825 NA NA NA NA NA 0.833 NA 4.6494333 1187 11 2428341 2428341 G A intronic TRPM5 NA NA NA ncRNA_intronic ENSG00000230483 NA NA NA NA NA 11p15.5 NA Name=ZNF263 NA NA rs11022676 0.15 0.15 NA 0.233826 0.2624 0.3125 0.2363 0.1104 0.2883 0.19 0.16 0.14 0.09 0.239 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29656 NA NA 0.18253 0.095978 ID=COSM1604441;OCCURENCE=1(liver) 0.138 NA 4.6494033 1187 10 101825160 101825160 C G intronic CPN1 NA NA NA intronic ENSG00000120054 NA NA NA NA NA 10q24.2 NA Name=Rad21 Name=3 NA rs3829161 0.39 0.39 0.394 0.381789 0.4761 0.1885 0.4265 0.4743 0.3272 0.46 0.2 0.46 0.47 0.4169 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692029 NA NA 0.457791 0.478892 NA 0.478 NA 4.649209 1187 2 20491584 20491584 T C intronic PUM2 NA NA NA intronic ENSG00000055917 NA NA NA Score=547;Name=lod=223 NA 2p24.1 NA NA NA NA rs3821218 0.26 0.26 0.237 0.238019 0.3509 0.2054 0.2896 0.0908 0.318 0.36 0.22 0.33 0.1 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678085 NA NA NA NA NA 0.217 NA 4.6491 1187 2 219259270 219259270 G A intronic SLC11A1 NA NA NA intronic ENSG00000018280 NA NA NA NA NA 2q35 NA NA Name=8 NA rs2279015 0.45 0.45 0.491 0.475839 0.3509 0.2688 0.4049 0.8797 0.3221 0.34 0.27 0.38 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081888 NA NA NA NA NA 0.609 NA 4.6491 1187 19 23779399 23779399 G A intergenic ZNF91,ZNF675 dist=201130;dist=56309 NA NA ncRNA_exonic ENSG00000268455 NA NA NA Score=321;Name=lod=27 NA 19p12 NA NA NA NA rs4932713 0.51 0.51 0.487 0.540735 0.3509 0.7728 0.5432 0.4841 0.5716 0.35 0.74 0.51 0.5 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884084 NA NA NA NA NA 0.543 NA 4.6491 1187 12 18889149 18889149 T C intronic PLCZ1 NA NA NA ncRNA_intronic ENSG00000255648 NA NA NA Score=419;Name=lod=67 NA 12p12.3 NA NA NA NA rs12300257 0.27 0.27 0.259 0.276957 0.2227 0.3452 0.2882 0.2572 0.2812 0.23 0.34 0.27 0.22 0.2398 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009396 NA NA 0.221964 0.232637 NA 0.203 NA 4.6488693 1187 3 190342442 190342442 G A intronic IL1RAP NA NA NA ncRNA_exonic ENSG00000231047 NA NA NA Score=300;Name=lod=22 NA 3q28 NA NA NA NA rs2193877 0.67 0.67 0.66 0.656949 0.6849 0.8264 0.6354 0.4924 0.6912 0.69 0.8 0.66 0.52 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328896 NA NA NA NA NA 0.652 NA 4.6484333 1187 5 37506332 37506332 T C intronic WDR70 NA NA NA ncRNA_exonic ENSG00000248216 NA NA NA Score=778;Name=lod=1935 NA 5p13.2 NA NA NA NA rs11957546 0.57 0.57 0.548 0.5623 0.6849 0.5109 0.6945 0.3253 0.7157 0.7 0.56 0.64 0.32 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652191 NA NA NA NA NA 0.522 NA 4.6484333 1187 9 136083638 136083638 C G intronic OBP2B NA NA NA exonic ENSG00000171102 NA synonymous SNV ENSG00000171102:ENST00000372032:exon2:c.G78C:p.G26G NA NA 9q34.2 NA NA NA NA rs72769499 0.11 0.11 0.07 NA NA NA NA NA NA 0.17 0.07 0.1 0.05 0.185 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301895 NA NA NA NA ID=COSM150737;OCCURENCE=1(stomach) 0.007 NA 4.6483333 1187 1 15789733 15789733 A G intronic CELA2A NA NA NA intronic ENSG00000142615 NA NA NA NA NA 1p36.21 NA Name=AP-2alpha NA NA rs3815792 0.34 0.34 0.32 0.333666 0.3519 0.2431 0.3156 0.3971 0.3354 0.34 0.24 0.36 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01599 NA NA NA NA NA 0.312 NA 4.6481 1187 1 199357586 199357586 G C intergenic LOC100131234,NR5A2 dist=451028;dist=639144 NA NA ncRNA_exonic ENSG00000236468 NA NA NA Score=854;Name=lod=3942 NA 1q32.1 NA NA NA NA rs693911 0.33 0.33 0.327 0.348842 0.3519 0.2986 0.3876 0.3525 0.365 0.33 0.29 0.4 0.31 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084122 NA NA NA NA NA 0.391 NA 4.6481 1187 3 111637816 111637816 A G intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA NA NA 3q13.2 NA Name=TCF4 NA NA rs16858868 0.38 0.38 0.34 0.338458 0.3519 0.6706 0.3905 0.0545 0.3292 0.37 0.68 0.35 0.05 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544186 NA NA NA NA NA 0.326 NA 4.6481 1187 5 77080760 77080760 G A intergenic TBCA,AP3B1 dist=8575;dist=217390 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254407 0.18 0.18 0.14 0.157548 0.3519 0.0427 0.2363 0.0393 0.18 0.35 0.04 0.22 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029021 NA NA NA NA NA 0.145 NA 4.6481 1187 5 77081219 77081219 C A intergenic TBCA,AP3B1 dist=9034;dist=216931 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254404 0.17 0.17 0.149 0.157149 0.3519 0.0437 0.2378 0.0363 0.18 0.35 0.04 0.22 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353666 NA NA NA NA NA 0.138 NA 4.6481 1187 6 123892337 123892337 G A intronic TRDN NA NA NA intronic ENSG00000186439 NA NA NA NA NA 6q22.31 NA Name=KAP1 NA NA rs2295732 0.26 0.26 0.276 0.24361 0.3519 0.0536 0.2522 0.3676 0.1544 0.34 0.05 0.27 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436957 NA NA NA NA NA 0.355 NA 4.6481 1187 11 65495211 65495211 G A intergenic RNASEH2C,AP5B1 dist=6802;dist=46158 NA NA ncRNA_exonic ENSG00000214659 NA NA NA Score=650;Name=lod=583 NA 11q13.1 NA NA NA NA rs11227279 0.23 0.23 0.217 0.23742 0.3519 0.2321 0.1974 0.0946 0.3466 0.35 0.2 0.22 0.1 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780863 NA NA NA NA NA 0.203 NA 4.6481 1187 19 53727282 53727282 A G intergenic ZNF818P,ZNF677 dist=7927;dist=11356 NA NA ncRNA_exonic ENSG00000267809 NA NA NA Score=544;Name=lod=216 NA 19q13.42 NA NA NA NA rs11084227 0.42 0.42 0.404 0.425719 0.3519 0.7431 0.3804 0.1679 0.5552 0.34 0.73 0.38 0.21 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.38102 4.38102 0.16 NA NA ID=COSN165924;OCCURENCE=1(breast) 0.362 NA 4.6481 1187 11 60695301 60695301 C A exonic TMEM132A NA synonymous SNV TMEM132A:NM_017870:exon3:c.C504A:p.A168A,TMEM132A:NM_178031:exon3:c.C504A:p.A168A exonic ENSG00000006118 NA synonymous SNV ENSG00000006118:ENST00000005286:exon3:c.C504A:p.A168A,ENSG00000006118:ENST00000453848:exon3:c.C504A:p.A168A NA NA 11q12.2 Score=765;Name=V$AHR_01 NA NA NA rs575123 0.72 0.72 0.71 0.739217 0.6451 0.9514 0.7608 0.5272 0.8885 0.65 0.96 0.72 0.52 0.7113 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.31494 NA NA 0.662313 0.550705 ID=COSM429373,COSM1475612;OCCURENCE=1(breast) 0.652 NA 4.6479536 1187 19 22688243 22688243 C T intergenic ZNF98,LOC440518 dist=83095;dist=90816 NA NA intronic ENSG00000197360 NA NA NA Score=586;Name=lod=321 NA 19p12 NA NA NA NA rs151291537 0.01 0.01 0.007 0.00698882 0.0189 NA 0.0101 NA 0.0092 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682759 NA NA NA NA NA 0.007 NA 4.6477667 1187 20 61452837 61452837 G A intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA Score=251;Name=lod=14 NA 20q13.33 NA NA NA NA rs117347229 0.08 0.08 0.085 0.0732827 0.1531 0.006 0.0749 0.0378 0.1074 0.15 0.0035 0.09 0.04 0.0924 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379665 1.379665 NA 0.107093 0.04857 NA 0.08 NA 4.647407 1187 1 202092360 202092360 G A exonic GPR37L1 NA nonsynonymous SNV GPR37L1:NM_004767:exon1:c.G269A:p.G90D exonic ENSG00000170075 NA nonsynonymous SNV ENSG00000170075:ENST00000367282:exon1:c.G269A:p.G90D NA NA 1q32.1 NA NA NA NA rs3795595 0.84 0.84 0.826 0.850439 0.9066 0.8353 0.83 0.7769 0.9223 0.91 0.81 0.87 0.75 0.8861 0.91 0.82 T 0.0 B 0.0 B 0.059 N 1.000 P -0.41 N -1.25 T -0.986 T 0.000 T 0.018 -1.295 0.038 -0.436 -0.033 -0.401 5.969 -1.295134 NA 0.87 0.893488 0.811847 NA 0.826 NA 4.6471454 1187 5 77081484 77081484 C A intergenic TBCA,AP3B1 dist=9299;dist=216666 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254402 0.17 0.17 0.156 0.156949 0.3529 0.0437 0.2363 0.0356 0.18 0.35 0.04 0.22 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591751 NA NA NA NA NA 0.138 NA 4.6471 1187 5 77081679 77081679 C T intergenic TBCA,AP3B1 dist=9494;dist=216471 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254400 0.17 0.17 0.148 0.156949 0.3529 0.0437 0.2363 0.0356 0.18 0.35 0.04 0.22 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25441 NA NA NA NA NA 0.123 NA 4.6471 1187 9 32431931 32431931 A G intronic ACO1 NA NA NA intronic ENSG00000122729 NA NA NA NA NA 9p21.1 NA NA Name=107 NA rs10970975 0.38 0.38 0.373 0.355631 0.3539 0.5079 0.3487 0.3185 0.2556 0.36 0.47 0.38 0.32 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725783 NA NA NA NA NA 0.362 NA 4.6461 1187 11 59259831 59259831 T C intergenic OR4D10,OR4D11 dist=13993;dist=11218 NA NA ncRNA_exonic ENSG00000204989 NA NA NA Score=440;Name=lod=82 NA 11q12.1 NA NA NA NA rs10896980 0.37 0.37 0.376 0.399161 0.3539 0.3165 0.2608 0.5545 0.4192 0.35 0.28 0.29 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318105 NA NA NA NA ID=COSN163963;OCCURENCE=1(breast) 0.486 NA 4.6461 1187 15 78271251 78271251 T C intergenic LOC645752,LOC91450 dist=52063;dist=14324 NA NA ncRNA_exonic ENSG00000261143 NA NA NA Score=336;Name=lod=31 NA 15q24.3 NA NA NA NA rs11637205 0.22 0.22 0.019 0.2502 0.3539 0.1369 0.2478 0.2912 0.2065 0.28 0.15 0.24 0.19 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412789 NA NA NA NA NA NA NA 4.6461 1187 16 74877062 74877062 T C intergenic FA2H,WDR59 dist=68333;dist=30409 NA NA ncRNA_exonic ENSG00000261458 NA NA NA Score=517;Name=lod=168 NA 16q23.1 NA NA NA NA rs12444292 0.18 0.18 0.175 0.222843 0.3539 0.0079 0.2205 0.2882 0.2229 0.26 0.0035 0.22 0.24 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612623 NA NA NA NA NA NA NA 4.6461 1187 16 74877063 74877063 G A intergenic FA2H,WDR59 dist=68334;dist=30408 NA NA ncRNA_exonic ENSG00000261458 NA NA NA Score=517;Name=lod=168 NA 16q23.1 NA NA NA NA rs12446306 0.19 0.19 0.171 0.222843 0.3539 0.0079 0.2205 0.2882 0.2229 0.27 0.0035 0.22 0.25 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.733184 NA NA NA NA NA NA NA 4.6461 1187 16 87873247 87873247 A C intronic SLC7A5 NA NA NA intronic ENSG00000103257 NA NA NA NA NA 16q24.2 NA Name=Pol2 NA NA rs750950 0.49 0.49 0.425 0.474441 0.3539 0.7966 0.5245 0.3548 0.3926 0.36 0.81 0.43 0.34 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599565 NA NA NA NA NA 0.348 NA 4.6461 1187 19 11327626 11327626 A G exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon30:c.T3858C:p.D1286D exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon16:c.T1875C:p.D625D,ENSG00000130158:ENST00000294618:exon30:c.T3858C:p.D1286D Score=569;Name=lod=274 NA 19p13.2 NA NA NA NA rs4804152 0.61 0.61 0.593 0.579473 0.6779 0.5784 0.5634 0.5401 0.544 0.66 0.56 0.59 0.58 0.6436 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078542 NA NA 0.699408 0.590909 NA 0.732 NA 4.6457586 1187 1 6694207 6694207 A G UTR3 THAP3 NM_138350:c.*59A>G NA NA UTR3 ENSG00000041988 ENST00000377627:c.*59A>G NA NA NA NA 1p36.31 NA NA Name=3 NA rs12727844 0.34 0.34 0.323 0.36861 0.331 0.3879 0.3429 0.3064 0.4898 0.33 0.39 0.32 0.29 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032664 NA NA 0.356694 0.317919 NA 0.384 NA 4.6456394 1187 1 240308147 240308147 T C intronic FMN2 NA NA NA ncRNA_exonic ENSG00000228818 NA NA NA Score=897;Name=lod=5865 NA 1q43 NA NA NA NA rs10926139 0.65 0.65 0.64 0.706869 0.6879 0.5188 0.5908 0.9213 0.7127 0.69 0.46 0.58 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320655 NA NA NA NA NA 0.703 NA 4.6454333 1187 1 222713750 222713750 G A intronic HHIPL2 NA NA NA intronic ENSG00000143512 NA NA NA NA NA 1q41 NA NA Name=19 NA rs3828079 0.56 0.56 0.564 0.54992 0.3549 0.6538 0.5965 0.7451 0.3466 0.36 0.66 0.52 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211987 NA NA NA NA NA 0.536 NA 4.6451 1188 1 155904177 155904177 T C UTR5 KIAA0907 NM_014949:c.-13A>G NA NA UTR5 ENSG00000132680 ENST00000368321:c.-13A>G,ENST00000368320:c.-13A>G NA NA Score=600;Name=lod=367 NA 1q22 NA Name=ELK4,POU2F2,E2F4,HMGN3,GABP,E2F6_(H-50),Pol2(b),GATA-1,TAF1,SP2_(SC-643),TAF7_(SQ-8),Sin3Ak-20,BRCA1_(C-1863),YY1_(C-20),HA-E2F1,TR4,Pol2-4H8,E2F6,ZNF263,KAP1,NRSF,SP1,PU.1,RFX5_(N-494),Pol2,Pol2(phosphoS2),Ini1,PAX5-N19,PAX5-C20,NF-YB,Oct-2,c-Myc,CCNT2,NFKB,HEY1,ELF1_(SC-631),IRF3,TBP,CHD2_(N-1250),GTF2F1_(RAP-74),CTCF,TCF12,USF-1,GTF2B Name=148 NA rs2275079 0.8 0.8 0.774 0.779553 0.8926 0.9395 0.9063 0.4334 0.8763 0.9 0.93 0.91 0.44 0.8771 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.135826 2.135826 NA 0.918897 0.548819 NA 0.696 NA 4.6447364 1188 10 124325409 124325409 T G intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA Name=CTCF_(SC-5916),CTCF_(C-20),Znf143_(16618-1-AP),SMC3_(ab9263),Rad21,CTCF Name=143 NA rs3019515 0.68 0.68 0.661 0.689896 0.6789 0.7778 0.7752 0.5582 0.728 0.69 0.77 0.76 0.52 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470761 NA NA 0.676933 0.577312 NA 0.725 NA 4.644167 1188 2 38513295 38513295 A G intergenic CYP1B1-AS1,ATL2 dist=104302;dist=8734 NA NA ncRNA_exonic ENSG00000213594 NA NA NA Score=730;Name=lod=1240 NA 2p22.2 NA NA NA NA rs2373372 0.24 0.24 0.218 0.25 0.3559 0.0635 0.304 0.205 0.3558 0.35 0.07 0.31 0.2 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075291 NA NA NA NA NA 0.283 NA 4.6441 1188 2 38513342 38513342 C G intergenic CYP1B1-AS1,ATL2 dist=104349;dist=8687 NA NA ncRNA_exonic ENSG00000213594 NA NA NA Score=730;Name=lod=1240 NA 2p22.2 NA NA NA NA rs2373373 0.23 0.23 0.199 0.248602 0.3559 0.0655 0.304 0.1929 0.363 0.35 0.07 0.31 0.17 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414515 NA NA NA NA NA 0.275 NA 4.6441 1188 3 75406584 75406584 C T intergenic MIR4444-1,FAM86DP dist=142885;dist=64119 NA NA ncRNA_exonic ENSG00000179799 NA NA NA Score=259;Name=lod=15 NA 3p12.3 NA NA NA NA rs34054461 0.39 0.39 0.363 0.407748 0.3559 0.374 0.3732 0.5651 0.3078 0.35 0.34 0.36 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084553 NA NA NA NA NA 0.362 NA 4.6441 1188 3 194814686 194814686 G C intronic XXYLT1 NA NA NA intronic ENSG00000173950 NA NA NA NA NA 3q29 NA Name=ZNF263 NA NA rs4677803 0.61 0.61 0.643 0.626997 0.3559 0.9643 0.4049 0.7262 0.5818 0.37 0.97 0.38 0.72 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193376 NA NA NA NA NA 0.391 NA 4.6441 1188 6 150164378 150164378 G A intronic LRP11 NA NA NA intronic ENSG00000120256 NA NA NA NA NA 6q25.1 NA NA Name=17 NA rs2184370 0.53 0.53 0.51 0.523762 0.3559 0.8125 0.6383 0.4766 0.3814 0.35 0.79 0.59 0.48 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693414 NA NA NA NA NA 0.543 NA 4.6441 1188 16 27145222 27145222 C A intergenic C16orf82,KDM8 dist=64735;dist=69585 NA NA ncRNA_exonic ENSG00000261557 NA NA NA Score=745;Name=lod=1419 NA 16p12.1 NA NA NA NA rs11646628 0.32 0.32 0.309 0.28115 0.3559 0.4127 0.3357 0.1218 0.2454 0.36 0.43 0.32 0.13 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587845 NA NA NA NA NA 0.232 NA 4.6441 1188 2 47693788 47693788 A T intronic MSH2 NA NA NA intronic ENSG00000095002 NA NA NA NA NA 2p21 NA NA NA NA rs12998837 0.07 0.07 0.051 0.0405351 0.1451 NA 0.0591 0.0038 0.0112 0.15 NA 0.07 0.01 0.0885 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355645 1.355645 NA 0.122442 0.027463 NA 0.051 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp|mult|single;CLNACC=RCV000030240.2|RCV000035357.2|RCV000132430.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|.|C0027672 4.643958 1188 9 94768542 94768542 A G intergenic ROR2,SPTLC1 dist=56098;dist=24885 NA NA ncRNA_exonic ENSG00000227399 NA NA NA Score=736;Name=lod=1303 NA 9q22.31 NA NA NA NA rs10733743 0.53 0.53 0.544 0.581669 0.3569 0.4534 0.6052 0.9236 0.4663 0.35 0.43 0.54 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106788 NA NA NA NA NA 0.688 NA 4.6431 1188 9 95682301 95682301 C T intergenic ZNF484,FGD3 dist=41981;dist=27300 NA NA ncRNA_exonic ENSG00000188101 NA NA NA Score=395;Name=lod=54 NA 9q22.31 NA NA NA NA rs4510923 0.37 0.37 0.341 0.364417 0.3569 0.121 0.4841 0.5893 0.2342 0.34 0.12 0.5 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.676537 NA NA NA NA NA 0.406 NA 4.6431 1188 14 51223106 51223106 G T intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA Name=USF-1 NA NA rs2295846 0.42 0.42 0.409 0.381789 0.3569 0.504 0.4798 0.3495 0.2556 0.36 0.52 0.5 0.32 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610344 NA NA NA NA NA 0.377 NA 4.6431 1188 19 45868038 45868038 G A intronic ERCC2 NA NA NA intronic ENSG00000104884 NA NA NA NA NA 19q13.32 NA Name=AP-2gamma NA NA rs1799786 0.19 0.19 0.189 0.19389 0.3569 0.0496 0.1945 0.0734 0.3374 0.37 0.07 0.19 0.06 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448757 NA NA NA NA NA 0.21 NA 4.6431 1188 19 53727392 53727392 T C intergenic ZNF818P,ZNF677 dist=8037;dist=11246 NA NA ncRNA_exonic ENSG00000267809 NA NA NA Score=732;Name=lod=1253 NA 19q13.42 NA NA NA NA rs10401578 0.48 0.48 0.487 0.511781 0.3569 0.746 0.4078 0.4728 0.5562 0.34 0.74 0.42 0.43 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.834665 1.834665 NA NA NA ID=COSN165925;OCCURENCE=2(breast) 0.449 NA 4.6431 1188 19 53727644 53727644 T C intergenic ZNF818P,ZNF677 dist=8289;dist=10994 NA NA ncRNA_exonic ENSG00000267809 NA NA NA Score=732;Name=lod=1253 NA 19q13.42 NA NA NA NA rs12972588 0.48 0.48 0.43 0.511581 0.3569 0.746 0.4092 0.4705 0.5573 0.34 0.74 0.41 0.43 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.292226 1.292226 1 NA NA ID=COSN165929;OCCURENCE=1(NS) 0.449 NA 4.6431 1188 21 15297474 15297474 A T intergenic C21orf15,ANKRD20A11P dist=76789;dist=18622 NA NA ncRNA_intronic ENSG00000215559 NA NA NA Score=289;Name=lod=20 NA 21q11.2 NA NA NA NA rs2210212 0.25 0.25 NA 0.223043 0.3569 0.1558 0.3963 0.1021 0.1953 0.35 0.19 0.35 0.11 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271861 NA NA NA NA NA NA NA 4.6431 1188 10 71392692 71392692 T C exonic C10orf35 NA synonymous SNV C10orf35:NM_145306:exon4:c.T243C:p.L81L exonic ENSG00000171224 NA synonymous SNV ENSG00000171224:ENST00000373279:exon4:c.T243C:p.L81L NA NA 10q22.1 Score=846;Name=V$RFX1_02 NA NA NA rs1052152 0.73 0.73 0.703 0.711062 0.665 0.8919 0.7406 0.6067 0.6922 0.68 0.89 0.72 0.62 0.6918 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457356 NA NA 0.66686 0.626645 NA 0.696 NA 4.6430066 1188 8 142202856 142202856 C T intronic DENND3 NA NA NA exonic ENSG00000105339 NA unknown UNKNOWN NA NA 8q24.3 NA Name=Pol2 NA NA rs6990186 0.46 0.46 0.407 0.46905 0.3976 0.6617 0.4553 0.3298 0.5419 0.37 0.67 0.5 0.33 0.4596 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261697 NA 0 NA NA NA 0.457 NA 4.6428 1188 6 159205632 159205632 C T intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA Name=Pol2(b),GR Name=68 NA rs9364995 0.33 0.33 0.327 0.333067 0.4742 0.1935 0.2608 0.2814 0.453 0.48 0.16 0.32 0.29 0.405 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969025 NA NA 0.478023 0.324784 NA 0.312 NA 4.642777 1188 10 26880240 26880240 A T ncRNA_exonic LINC00264 NA NA NA ncRNA_exonic ENSG00000233261 NA NA NA NA NA 10p12.1 NA NA NA NA rs184478959 0.01 0.01 NA 0.00878594 0.0239 NA 0.0216 0.0015 0.0031 0.02 NA 0.03 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029792 NA NA NA NA NA NA NA 4.6427666 1188 2 90139373 90139373 T G intergenic MIR4436A,LOC654342 dist=1027405;dist=1685336 NA NA exonic ENSG00000241244 NA nonsynonymous SNV ENSG00000241244:ENST00000492446:exon2:c.T144G:p.S48R NA NA 2p11.2 NA NA NA NA rs6760987 0.04 0.04 0.027 0.0377396 0.0696 0.0069 0.0476 0.0053 0.0736 0.08 0.01 0.02 0.01 0.055 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189078 NA NA 0.066056 0.020302 NA 0.007 NA 4.6426774 1188 8 144124548 144124548 G A intronic C8orf31 NA NA NA intronic ENSG00000177335 NA NA NA NA NA 8q24.3 NA NA Name=34 NA rs78041945 0.11 0.11 0.105 0.114018 0.1163 0.1815 0.1643 0.0113 0.1452 0.1 0.17 0.18 0.02 0.1254 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704188 NA NA 0.115814 0.024739 NA 0.065 NA 4.642486 1188 7 121944527 121944527 T C ncRNA_UTR5 FEZF1 NA NA NA ncRNA_UTR5 ENSG00000128610 NA NA NA NA NA 7q31.32 NA Name=ZNF263 Name=51 NA rs11761299 0.62 0.62 0.606 0.622804 0.6909 0.6042 0.6066 0.587 0.6319 0.7 0.59 0.6 0.57 0.6592 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737151 NA NA 0.674186 0.63527 NA 0.601 NA 4.6423806 1188 10 8556719 8556719 G A intergenic GATA3,NONE dist=439555;dist=NONE NA NA ncRNA_exonic ENSG00000213771 NA NA NA Score=743;Name=lod=1398 NA 10p14 NA NA NA NA rs61829474 0.35 0.35 0.343 0.351837 0.3579 0.3145 0.3631 0.3669 0.3558 0.34 0.36 0.35 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064906 NA NA NA NA NA 0.232 NA 4.6421 1188 11 89466732 89466732 C A intergenic TRIM77,TRIM49 dist=15692;dist=64091 NA NA ncRNA_exonic ENSG00000255540 NA NA NA Score=691;Name=lod=854 NA 11q14.3 NA NA NA NA rs17221829 0.25 0.25 0.241 0.227636 0.3579 0.2996 0.2968 0.028 0.2403 0.34 0.32 0.28 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268757 NA NA NA NA NA 0.283 NA 4.6421 1188 8 144944176 144944176 T C exonic EPPK1 NA synonymous SNV EPPK1:NM_031308:exon1:c.A3246G:p.E1082E exonic ENSG00000227184 NA synonymous SNV ENSG00000227184:ENST00000525985:exon2:c.A3246G:p.E1082E Score=393;Name=lod=53 NA 8q24.3 NA NA NA NA rs12542653 0.54 0.54 0.516 0.534545 0.6879 0.2798 0.683 0.4841 0.6022 0.69 0.28 0.69 0.49 0.6361 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606433 NA NA 0.700995 0.56611 NA 0.507 NA 4.6416716 1188 1 220799213 220799213 A G intronic MARK1 NA NA NA ncRNA_exonic ENSG00000233012 NA NA NA Score=766;Name=lod=1736 NA 1q41 NA NA NA NA rs2378400 0.55 0.55 0.509 0.529553 0.6918 0.5367 0.598 0.3215 0.5879 0.68 0.51 0.62 0.36 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721147 NA NA NA NA ID=COSN163443;OCCURENCE=1(breast) 0.493 NA 4.6415333 1188 5 55571341 55571341 T A intergenic ANKRD55,MAP3K1 dist=42155;dist=539559 NA NA ncRNA_exonic ENSG00000248781 NA NA NA Score=836;Name=lod=3324 NA 5q11.2 NA NA NA NA rs44058 0.42 0.42 0.392 0.429513 0.3588 0.6081 0.4179 0.3343 0.455 0.35 0.58 0.43 0.35 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189411 NA NA NA NA NA 0.362 NA 4.6412 1188 1 228432987 228432987 G C intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA Name=KAP1 NA NA rs1757129 0.29 0.29 0.278 0.279752 0.3588 0.1597 0.3501 0.3374 0.1943 0.36 0.16 0.37 0.29 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683495 NA NA NA NA NA 0.333 NA 4.6412 1188 5 19473917 19473917 G A intronic CDH18 NA NA NA intronic ENSG00000145526 NA NA NA NA NA 5p14.3 NA NA Name=4 NA rs770303 0.32 0.32 0.321 0.335463 0.3588 0.2004 0.3213 0.4123 0.3569 0.36 0.22 0.31 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504581 NA NA NA NA NA 0.261 NA 4.6412 1188 6 32797620 32797620 C T intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA Name=ZNF263 NA NA rs241438 0.37 0.37 0.347 0.374601 0.3588 0.5169 0.3818 0.2254 0.4407 0.35 0.51 0.37 0.23 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019548 NA NA NA NA NA 0.275 NA 4.6412 1188 12 124184482 124184482 G C intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA Name=2 NA rs73219037 0.27 0.27 0.264 0.272364 0.3588 0.0565 0.2291 0.3979 0.2669 0.36 0.05 0.25 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138127 NA NA NA NA NA 0.21 NA 4.6412 1188 3 48463711 48463711 T C intronic PLXNB1 NA NA NA intronic ENSG00000164050 NA NA NA NA NA 3p21.31 NA Name=CTCF Name=4 NA rs9883927 0.38 0.38 0.391 0.38139 0.4642 0.3135 0.3112 0.4607 0.3088 0.45 0.29 0.33 0.42 0.424 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67964 NA NA 0.470923 0.459147 NA 0.464 NA 4.640877 1188 9 72897434 72897434 G A exonic SMC5 NA nonsynonymous SNV SMC5:NM_015110:exon7:c.G916A:p.V306I exonic ENSG00000198887 NA nonsynonymous SNV ENSG00000198887:ENST00000361138:exon7:c.G916A:p.V306I NA NA 9q21.12 NA NA NA NA rs1180116 0.87 0.87 0.857 0.855032 0.9066 0.8532 0.902 0.7738 0.8804 0.9 0.86 0.91 0.79 0.8824 0.91 0.57 T 0.0 B 0.001 B 0.054 N 1.000 P -0.255 N 2.34 T -1.035 T 0.000 T 0.029 0.047 4.257 -1.31 -0.106 -0.059 0.504 0.046766 NA 0.43 0.903837 0.761916 NA 0.899 NA 4.6404964 1188 12 49498130 49498130 G T intronic LMBR1L NA NA NA intronic ENSG00000139636 NA NA NA NA NA 12q13.12 NA NA Name=13 NA rs10783302 0.52 0.52 0.522 0.535144 0.3598 0.6776 0.3919 0.593 0.592 0.36 0.72 0.43 0.58 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844954 NA NA NA NA NA 0.507 NA 4.6402 1188 15 34666128 34666128 C T intergenic LPCAT4,GOLGA8A dist=6733;dist=5142 NA NA ncRNA_exonic ENSG00000259904 NA NA NA Score=848;Name=lod=3716 NA 15q14 NA NA NA NA rs4984216 0.37 0.37 0.025 0.373003 0.3598 0.4097 0.3718 0.3041 0.4427 0.35 0.4 0.39 0.34 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177385 NA NA NA NA NA NA NA 4.6402 1188 16 75338855 75338855 C T intronic CFDP1 NA NA NA intronic ENSG00000153774 NA NA NA NA NA 16q23.1 NA Name=Pol2 NA NA rs3743607 0.36 0.36 0.333 0.327875 0.3598 0.5248 0.4438 0.0651 0.365 0.37 0.51 0.43 0.1 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027464 NA NA NA NA NA 0.217 NA 4.6402 1188 2 15537641 15537641 T C intronic NBAS NA NA NA ncRNA_exonic ENSG00000229087 NA NA NA Score=702;Name=lod=950 NA 2p24.3 NA NA NA NA rs13017859 0.53 0.53 0.53 0.527955 0.6938 0.2242 0.6282 0.5673 0.546 0.67 0.26 0.64 0.56 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485522 NA NA NA NA NA 0.681 NA 4.6395333 1188 2 15537863 15537863 T C intronic NBAS NA NA NA ncRNA_exonic ENSG00000229087 NA NA NA Score=702;Name=lod=950 NA 2p24.3 NA NA NA NA rs6760888 0.53 0.53 0.552 0.528554 0.6938 0.2252 0.6282 0.5673 0.5481 0.67 0.26 0.64 0.56 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03989 NA NA NA NA NA 0.681 NA 4.6395333 1188 2 15537866 15537866 C A intronic NBAS NA NA NA ncRNA_exonic ENSG00000229087 NA NA NA Score=702;Name=lod=950 NA 2p24.3 NA NA NA NA rs6745621 0.52 0.52 0.544 0.517971 0.6938 0.2252 0.6254 0.5371 0.5368 0.67 0.26 0.63 0.51 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565022 NA NA NA NA NA 0.674 NA 4.6395333 1188 1 145021265 145021265 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=SPT20 NA NA rs673110 NA NA NA 0.28155 0.3608 0.127 0.3401 0.3026 0.2894 NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515479 NA NA NA NA NA 0.145 NA 4.6392 1188 3 72926390 72926390 A G intergenic SHQ1,GXYLT2 dist=28792;dist=10995 NA NA ncRNA_exonic ENSG00000240135 NA NA NA Score=722;Name=lod=1141 NA 3p13 NA NA NA NA rs7610496 0.28 0.28 0.274 0.291534 0.3608 0.0437 0.2824 0.4917 0.2117 0.34 0.03 0.3 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577286 NA NA NA NA NA 0.261 NA 4.6392 1188 7 65888470 65888470 T C intergenic LINC00174,LOC493754 dist=23075;dist=130083 NA NA ncRNA_exonic ENSG00000231234 NA NA NA Score=766;Name=lod=1732 NA 7q11.21 NA NA NA NA rs6947339 0.32 0.32 0.263 0.375399 0.3608 0.4563 0.3602 0.2345 0.5082 0.34 0.42 0.33 0.19 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26487 NA NA NA NA NA 0.391 NA 4.6392 1188 13 39544663 39544663 C T intronic STOML3 NA NA NA intronic ENSG00000133115 NA NA NA NA NA 13q13.3 NA NA Name=5 NA rs9315639 0.37 0.37 0.367 0.326278 0.3608 0.5119 0.3444 0.18 0.2843 0.38 0.51 0.35 0.21 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547402 NA NA NA NA NA 0.188 NA 4.6392 1188 4 54373464 54373464 C T ncRNA_intronic LNX1-AS1 NA NA NA ncRNA_intronic ENSG00000250930 NA NA NA NA NA 4q12 NA Name=CEBPB NA NA rs10021772 0.39 0.39 0.367 0.482029 0.3082 0.5208 0.3646 0.4713 0.7188 0.31 0.46 0.37 0.44 0.401 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867882 NA NA 0.318372 0.473445 ID=COSN167218;OCCURENCE=1(kidney),2(large_intestine),2(endometrium) 0.442 NA 4.6390946 1188 19 11327608 11327608 T C exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon30:c.A3876G:p.L1292L exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon16:c.A1893G:p.L631L,ENSG00000130158:ENST00000294618:exon30:c.A3876G:p.L1292L Score=569;Name=lod=274 NA 19p13.2 NA NA NA NA rs4804151 0.62 0.62 0.608 0.59345 0.6789 0.5794 0.5663 0.5885 0.546 0.66 0.56 0.6 0.62 0.6476 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387075 NA NA 0.701205 0.638836 NA 0.732 NA 4.6389616 1188 6 31382882 31382882 C A exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon7:c.C1118A:p.A373D ncRNA_UTR3 ENSG00000204520 NA NA NA NA NA 6p21.33 NA NA NA NA rs9266825 0.34 0.34 0.302 0.342851 0.2992 0.2996 0.3516 0.4372 0.2986 0.3 0.28 0.4 0.44 0.3039 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263672 NA 0.14 0.258014 0.378613 NA 0.217 NA 4.638886 1188 14 35704555 35704555 G A intronic KIAA0391 NA NA NA ncRNA_exonic ENSG00000256243 NA NA NA Score=722;Name=lod=1144 NA 14q13.2 NA NA NA NA rs12147110 0.64 0.64 0.608 0.582668 0.6948 0.747 0.7478 0.3011 0.5613 0.71 0.74 0.71 0.36 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196407 NA NA NA NA NA 0.623 NA 4.6385333 1188 6 64258654 64258654 C T intergenic LGSN,PTP4A1 dist=228772;dist=23266 NA NA ncRNA_exonic ENSG00000213312 NA NA NA Score=517;Name=lod=168 NA 6q12 NA NA NA NA rs1744153 0.36 0.36 0.33 0.396765 0.3618 0.3036 0.4741 0.4175 0.4458 0.37 0.28 0.44 0.4 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221374 NA NA NA NA NA 0.297 NA 4.6382 1188 7 131387145 131387145 T C intergenic PODXL,PLXNA4 dist=145769;dist=420946 NA NA ncRNA_exonic ENSG00000236395 NA NA NA Score=689;Name=lod=839 NA 7q32.3 NA NA NA NA rs11978012 0.49 0.49 0.495 0.510783 0.3618 0.378 0.4352 0.8366 0.4141 0.36 0.41 0.43 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431703 NA NA NA NA NA 0.638 NA 4.6382 1188 17 79427822 79427822 C T intronic BAHCC1 NA NA NA intronic ENSG00000171282 NA NA NA NA NA 17q25.3 Score=875;Name=V$MZF1_02 NA NA NA rs3744148 0.5 0.5 0.472 0.486621 0.3618 0.8919 0.5014 0.267 0.4836 0.37 0.89 0.45 0.29 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.031308 NA NA NA NA NA 0.435 NA 4.6382 1188 22 47057197 47057197 C T intronic GRAMD4 NA NA NA intronic ENSG00000075240 NA NA NA NA NA 22q13.31 NA NA Name=4 NA rs2076708 0.34 0.34 0.335 0.320687 0.3618 0.3998 0.3876 0.2648 0.2249 0.35 0.4 0.42 0.21 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657397 NA NA NA NA NA 0.268 NA 4.6382 1188 12 118509124 118509124 A G intronic VSIG10 NA NA NA intronic ENSG00000176834 NA NA NA Score=243;Name=lod=13 NA 12q24.23 NA NA NA NA rs11613924 0.12 0.12 0.105 0.127396 0.1163 0.1587 0.2017 0.0976 0.0941 0.11 0.13 0.18 0.08 0.1311 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.804901 1.804901 NA 0.11484 0.114912 NA 0.152 NA 4.63776 1188 11 102666037 102666037 A G ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA NA NA rs17884145 0.04 0.04 0.045 0.0401358 0.006 NA 0.0202 0.1369 NA 0.01 NA 0.01 0.16 0.0154 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.663333 1.663333 NA 0.007676 0.107354 NA 0.043 NA 4.6375906 1188 8 6331758 6331758 G A intronic MCPH1 NA NA NA ncRNA_exonic ENSG00000253550 NA NA NA Score=622;Name=lod=450 NA 8p23.1 NA NA NA NA rs2979656 0.55 0.55 0.516 0.514377 0.6958 0.5 0.6859 0.205 0.6391 0.71 0.52 0.74 0.22 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.308365 NA NA NA NA NA 0.428 NA 4.6375333 1188 9 86920236 86920236 T C exonic SLC28A3 NA synonymous SNV SLC28A3:NM_001199633:exon4:c.A267G:p.T89T,SLC28A3:NM_022127:exon5:c.A267G:p.T89T exonic ENSG00000197506 NA synonymous SNV ENSG00000197506:ENST00000376238:exon4:c.A267G:p.T89T,ENSG00000197506:ENST00000537648:exon5:c.A60G:p.T20T NA NA 9q21.33 NA NA NA NA rs7867504 0.53 0.53 0.535 0.563698 0.3211 0.6002 0.5764 0.8427 0.3896 0.31 0.58 0.5 0.85 0.4036 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017584 NA NA 0.304535 0.723105 NA 0.565 NA 4.6374316 1188 12 124417889 124417889 C T exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon76:c.C12954T:p.S4318S exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon76:c.C12954T:p.S4318S NA NA 12q24.31 NA NA NA NA rs4930721 0.28 0.28 0.287 0.260583 0.3479 0.123 0.3228 0.3109 0.2004 0.34 0.14 0.31 0.31 0.3741 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401232 NA NA 0.307303 0.307692 NA 0.304 NA 4.6373636 1188 5 144608701 144608701 T A intergenic KCTD16,PRELID2 dist=751757;dist=529881 NA NA ncRNA_exonic ENSG00000215325 NA NA NA Score=575;Name=lod=289 NA 5q32 NA NA NA NA rs6859959 0.32 0.32 0.336 0.308307 0.3628 0.0982 0.3055 0.5756 0.1094 0.35 0.08 0.31 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125151 NA 1 NA NA NA 0.391 NA 4.6372 1188 12 52863732 52863732 C T intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA Name=FOXA2_(SC-6554),FOXA1_(C-20) NA NA rs434339 0.33 0.33 0.32 0.2502 0.3628 0.4812 0.2651 0.0242 0.1912 0.36 0.56 0.32 0.04 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548765 NA NA NA NA NA 0.362 NA 4.6372 1188 1 201981355 201981355 G C intronic ELF3 NA NA NA ncRNA_intronic ENSG00000249007 NA NA NA NA NA 1q32.1 NA NA Name=6 NA rs55666208 0.32 0.32 0.325 0.34405 0.2435 0.3373 0.2363 0.5522 0.2495 0.23 0.34 0.2 0.52 0.2591 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706813 NA NA 0.193721 0.412807 NA NA NA 4.6370123 1188 1 65119397 65119397 A G intronic CACHD1 NA NA NA intronic ENSG00000158966 NA NA NA NA NA 1p31.3 NA NA Name=20 NA rs7518616 0.33 0.33 0.344 0.376797 0.0835 0.6349 0.2911 0.4387 0.3896 0.08 0.61 0.23 0.46 0.2066 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086744 NA NA 0.073953 0.396051 NA 0.391 NA 4.635947 1188 6 152809527 152809527 A T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA Score=600;Name=lod=365 NA 6q25.2 NA NA NA NA rs9397106 0.57 0.57 0.583 0.589257 0.4503 0.748 0.3746 0.7368 0.5215 0.44 0.74 0.38 0.7 0.481 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080306 NA NA 0.432798 0.652292 NA 0.529 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118432.2;CLNDSDB=.;CLNDSDBID=. 4.635902 1188 11 124766128 124766128 A G exonic ROBO4 NA synonymous SNV ROBO4:NM_019055:exon4:c.T645C:p.H215H exonic ENSG00000154133 NA synonymous SNV ENSG00000154133:ENST00000306534:exon4:c.T645C:p.H215H,ENSG00000154133:ENST00000533054:exon4:c.T210C:p.H70H NA NA 11q24.2 NA NA NA NA rs4078313 0.46 0.46 0.491 0.495807 0.334 0.4534 0.2853 0.8162 0.4223 0.33 0.49 0.26 0.77 0.3849 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806016 NA NA 0.312166 0.718083 NA 0.63 NA 4.6356006 1188 17 21207909 21207909 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs41301807 0.34 0.34 0.288 NA NA NA NA NA NA 0.36 0.44 0.37 0.16 0.3644 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74921 NA NA NA NA NA 0.196 NA 4.6356 1188 22 50312869 50312869 T C intronic CRELD2 NA NA NA intronic ENSG00000184164 NA NA NA NA NA 22q13.33 NA Name=NRSF NA NA rs28562884 0.12 0.12 0.096 0.11242 0.1322 0.0546 0.0893 0.1369 0.135 0.15 0.06 0.1 0.15 0.1161 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390713 1.390713 NA 0.116279 0.155697 NA 0.203 NA 4.635421 1188 4 96123981 96123981 C T exonic UNC5C NA synonymous SNV UNC5C:NM_003728:exon12:c.G2037A:p.A679A exonic ENSG00000182168 NA synonymous SNV ENSG00000182168:ENST00000453304:exon12:c.G2037A:p.A679A,ENSG00000182168:ENST00000513796:exon13:c.G2094A:p.A698A NA NA 4q22.3 Score=773;Name=V$MIF1_01 NA NA NA rs3733212 0.6 0.6 0.591 0.584265 0.7167 0.3601 0.5375 0.73 0.5153 0.71 0.36 0.59 0.72 0.6213 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441508 NA NA 0.693256 0.714026 NA 0.652 NA 4.6354106 1188 17 30228656 30228656 G A UTR5 UTP6 NM_018428:c.-10C>T NA NA UTR5 ENSG00000108651 ENST00000261708:c.-10C>T NA NA NA NA 17q11.2 NA Name=Sin3Ak-20,Pol2-4H8,ZNF263,ELK4,Pol2(b),TBP,IRF1,USF-1,PAX5-C20,c-Myc,HEY1,NFKB,TAF7_(SQ-8),E2F6,Mxi1_(bHLH),NRSF,Pol2,Pol2(phosphoS2),GABP,USF2,TAF1,GTF2F1_(RAP-74),STAT1,Max,ELF1_(SC-631) NA NA rs2074101 0.26 0.26 0.255 0.296925 0.2266 0.1528 0.3905 0.4387 0.2597 0.23 0.15 0.31 0.41 0.2508 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.722996 1.722996 NA 0.22093 0.408307 NA 0.348 NA 4.6350034 1189 15 29033713 29033713 T C ncRNA_intronic LOC100289656 NA NA NA ncRNA_intronic ENSG00000232431 NA NA NA NA NA 15q13.1 NA NA NA NA rs113759030 0.07 0.07 0.059 0.0970447 0.0318 0.0387 0.0403 0.2156 0.1043 0.03 0.04 0.04 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171385 NA NA NA NA NA 0.036 NA 4.6348666 1189 17 25757087 25757087 G A ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA NA NA 17q11.1 NA NA NA NA rs111809181 0.02 0.02 0.016 0.0101837 0.0318 NA 0.0245 0.0015 NA 0.03 NA 0.03 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488304 NA 0 NA NA NA NA NA 4.6348666 1189 22 35799542 35799542 C T intronic MCM5 NA NA NA ncRNA_intronic ENSG00000240293 NA NA NA Score=464;Name=lod=103 NA 22q12.3 NA Name=Pol2-4H8 NA NA rs713618 0.5 0.5 0.524 0.477436 0.5815 0.2877 0.5533 0.5567 0.4049 0.58 0.31 0.58 0.53 0.5307 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.007111 NA NA 0.586395 0.548797 NA 0.601 NA 4.6347383 1189 19 41531597 41531597 C G intergenic CYP2B6,CYP2A13 dist=7296;dist=62759 NA NA ncRNA_exonic ENSG00000213908 NA NA NA Score=532;Name=lod=194 NA 19q13.2 NA NA NA NA rs35930845 0.16 0.16 0.124 0.140575 0.1869 0.2669 0.1138 0.0121 0.1554 0.19 0.25 0.11 0.02 0.1786 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.170283 NA NA NA NA NA 0.188 NA 4.6345 1189 15 34521940 34521940 C A intronic EMC4 NA NA NA intronic ENSG00000128463 NA NA NA Score=497;Name=lod=139 NA 15q14 NA NA NA NA rs8033087 0.13 0.13 0.128 0.15635 0.1133 0.005 0.1052 0.3245 0.1656 0.11 0.0017 0.14 0.29 0.1277 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.613368 3.613368 NA 0.124709 0.277828 NA 0.116 NA 4.634291 1189 1 203799343 203799343 C T intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA Name=5 NA rs12239438 0.06 0.06 0.055 0.0563099 0.1243 0.002 0.0476 0.0325 0.0808 0.12 0.0035 0.07 0.03 0.1064 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.644716 1.644716 NA 0.135094 0.049478 NA 0.029 NA 4.634206 1189 14 58471699 58471699 T C intronic C14orf37 NA NA NA intronic ENSG00000139971 NA NA NA Score=346;Name=lod=34 NA 14q23.1 NA NA NA NA rs727203 0.41 0.41 0.406 0.379792 0.3658 0.5853 0.3343 0.2799 0.3497 0.38 0.59 0.34 0.3 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086974 NA NA NA NA NA 0.406 NA 4.6342 1189 7 47323456 47323456 A G exonic TNS3 NA synonymous SNV TNS3:NM_022748:exon28:c.T3936C:p.N1312N exonic ENSG00000136205 NA synonymous SNV ENSG00000136205:ENST00000355730:exon25:c.T3216C:p.N1072N,ENSG00000136205:ENST00000311160:exon28:c.T3936C:p.N1312N,ENSG00000136205:ENST00000398879:exon28:c.T3936C:p.N1312N Score=507;Name=lod=154 NA 7p12.3 NA NA NA NA rs3750164 0.7 0.7 0.69 0.702077 0.6819 0.6319 0.7781 0.7405 0.6892 0.67 0.71 0.75 0.7 0.6833 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012327 NA NA 0.667335 0.751433 NA 0.739 NA 4.6341316 1189 5 70858194 70858194 C T exonic BDP1 NA synonymous SNV BDP1:NM_018429:exon38:c.C7590T:p.R2530R exonic ENSG00000145734 NA synonymous SNV ENSG00000145734:ENST00000525844:exon12:c.C1656T:p.R552R,ENSG00000145734:ENST00000358731:exon38:c.C7590T:p.R2530R NA NA 5q13.2 NA NA NA NA rs277941 0.34 0.34 0.315 0.323682 0.335 0.505 0.4928 0.1067 0.2986 0.33 0.51 0.44 0.1 0.3537 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.256354 NA NA 0.344341 0.15124 NA 0.29 NA 4.6336256 1189 19 49120434 49120434 C T intronic RPL18 NA NA NA intronic ENSG00000063177 NA NA NA NA NA 19q13.33 NA Name=Pol2-4H8 NA NA rs369880 0.24 0.24 0.241 0.225439 0.1243 0.3859 0.1816 0.2292 0.1902 0.12 0.41 0.18 0.25 0.2421 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459478 NA NA NA NA NA 0.225 NA 4.6336 1189 12 3757548 3757548 T C UTR3 EFCAB4B NM_032680:c.*90A>G NA NA UTR3 ENSG00000130038 ENST00000333750:c.*90A>G,ENST00000252322:c.*90A>G NA NA NA Name=Non-alcoholic fatty liver disease histology (lobular) 12p13.32 NA NA NA NA rs887304 0.85 0.85 NA 0.859425 0.6998 0.9911 0.8646 0.8926 0.8395 0.71 1 0.84 0.88 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507593 NA NA NA NA NA 0.848 NA 4.6335334 1189 1 203797384 203797384 A G intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA Name=22 NA rs36111209 0.06 0.06 0.05 0.0547125 0.1243 0.002 0.0476 0.0265 0.0808 0.12 0.0035 0.07 0.02 0.107 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152572 NA NA 0.135349 0.04562 NA 0.029 NA 4.633351 1189 6 12292772 12292772 G T intronic EDN1 NA NA NA intronic ENSG00000078401 NA NA NA NA NA 6p24.1 NA Name=Rad21,CTCF_(C-20),CTCF,Pol2,CTCF_(SC-5916),SMC3_(ab9263) Name=117 NA rs2070699 0.4 0.4 0.371 0.35623 0.4672 0.5446 0.5 0.0401 0.3732 0.47 0.56 0.46 0.05 0.4424 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411013 1.411013 NA 0.457093 0.096913 NA 0.319 NA 4.633307 1189 1 201981354 201981354 T C intronic ELF3 NA NA NA ncRNA_intronic ENSG00000249007 NA NA NA NA NA 1q32.1 NA NA Name=6 NA rs56310296 0.33 0.33 0.325 0.349641 0.2435 0.3413 0.2709 0.5522 0.2495 0.23 0.35 0.22 0.52 0.263 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673012 NA NA 0.193533 0.411671 NA NA NA 4.6333003 1189 4 118496770 118496770 T A intergenic TRAM1L1,NDST3 dist=490034;dist=458730 NA NA ncRNA_exonic ENSG00000213492 NA NA NA Score=714;Name=lod=1068 NA 4q26 NA NA NA NA rs2635362 0.38 0.38 0.34 0.341653 0.3668 0.5109 0.5418 0.1233 0.2945 0.37 0.52 0.51 0.12 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135376 NA NA NA NA NA 0.326 NA 4.6332 1189 5 118837658 118837658 T C intronic HSD17B4 NA NA NA intronic ENSG00000133835 NA NA NA NA NA 5q23.1 NA NA Name=5 NA rs257969 0.3 0.3 0.262 0.258586 0.3668 0.4107 0.3804 0.0227 0.2229 0.39 0.36 0.37 0.03 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145816 NA NA NA NA NA 0.203 NA 4.6332 1189 10 26243710 26243710 A C intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA Name=3 NA rs12247318 0.28 0.28 0.273 0.286542 0.3668 0.2956 0.2349 0.1384 0.4315 0.38 0.29 0.22 0.17 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691891 NA NA NA NA NA 0.203 NA 4.6332 1189 11 4232893 4232893 T C intergenic LOC100506082,OR52B4 dist=9010;dist=155600 NA NA ncRNA_exonic ENSG00000255387 NA NA NA Score=756;Name=lod=1579 NA 11p15.4 NA NA NA NA rs10742256 0.25 0.25 0.223 0.2498 0.3668 0.2679 0.255 0.0227 0.4141 0.38 0.26 0.24 0.04 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.525888 NA NA NA NA NA 0.188 NA 4.6332 1189 15 75816649 75816649 A C intronic PTPN9 NA NA NA intronic ENSG00000169410 NA NA NA NA NA 15q24.2 Score=751;Name=V$MEF2_04 NA NA NA rs12904319 0.15 0.15 0.147 0.136182 0.1243 0.2778 0.0994 0.0514 0.1431 0.11 0.31 0.11 0.05 0.1169 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.633357 1.633357 NA 0.126339 0.058944 NA 0.08 NA 4.632461 1189 12 129559557 129559557 C T exonic TMEM132D NA synonymous SNV TMEM132D:NM_133448:exon9:c.G2163A:p.T721T exonic ENSG00000151952 NA synonymous SNV ENSG00000151952:ENST00000389441:exon4:c.G777A:p.T259T,ENSG00000151952:ENST00000422113:exon9:c.G2163A:p.T721T NA NA 12q24.33 Score=849;Name=V$HMX1_01 NA NA NA rs10773594 0.64 0.64 0.654 0.644169 0.6769 0.5645 0.6888 0.6278 0.683 0.67 0.58 0.7 0.64 0.6687 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002283 NA NA 0.688721 0.652065 NA 0.529 NA 4.6323456 1189 5 54275119 54275119 A G UTR3 ESM1 NM_007036:c.*41T>C,NM_001135604:c.*41T>C NA NA UTR3 ENSG00000164283 ENST00000381405:c.*41T>C,ENST00000381403:c.*41T>C NA NA NA NA 5q11.2 NA Name=Pol2 NA NA rs3776032 0.22 0.22 0.203 0.229832 0.2217 0.2917 0.2262 0.0696 0.3937 0.24 0.32 0.2 0.07 0.2499 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473494 NA NA 0.229419 0.091693 NA 0.138 NA 4.6323144 1189 6 66547346 66547346 C G intergenic SLC25A51P1,NONE dist=47970;dist=NONE NA NA ncRNA_exonic ENSG00000233859 NA NA NA Score=784;Name=lod=2049 NA 6q12 NA NA NA NA rs2814092 0.18 0.18 0.173 0.150958 0.3678 0.0734 0.1844 0.0098 0.1748 0.37 0.05 0.23 0.02 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.10502 2.10502 NA NA NA NA 0.203 NA 4.6322 1189 4 114263101 114263101 T G intronic ANK2 NA NA NA intronic ENSG00000145362 NA NA NA NA NA 4q26 NA Name=MafK_(ab50322) NA NA rs62313243 0.06 0.06 0.053 0.0479233 0.1322 NA 0.0865 0.0083 0.0368 0.13 NA 0.11 0.01 0.0989 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937976 NA NA 0.136892 0.024091 NA 0.051 NA 4.632008 1189 8 42037630 42037630 C T intronic PLAT NA NA NA intronic ENSG00000104368 NA NA NA NA NA 8p11.21 NA NA Name=24 NA rs2020923 0.11 0.11 0.083 0.103435 0.1143 0.1885 0.0706 0.0166 0.1452 0.12 0.17 0.08 0.03 0.1268 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074238 NA NA 0.127209 0.031094 NA 0.058 NA 4.631691 1189 1 43774878 43774878 C T intronic TIE1 NA NA NA intronic ENSG00000066056 NA NA NA NA NA 1p34.2 NA Name=CTCF NA NA rs2282226 0.24 0.24 0.21 0.185104 0.3688 0.131 0.3401 0.0666 0.1022 0.38 0.14 0.34 0.06 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.635797 NA NA NA NA NA 0.312 NA 4.6312 1189 2 89161547 89161547 A G intergenic MIR4436A,NONE dist=49579;dist=NONE NA NA ncRNA_exonic ENSG00000231486 NA NA NA NA NA 2p11.2 NA Name=Pol2 NA NA rs232222 0.42 0.42 0.416 0.386382 0.3688 0.376 0.4308 0.4834 0.2526 0.35 0.41 0.42 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177598 NA NA NA NA NA 0.225 NA 4.6312 1189 7 6974986 6974986 G A intergenic CCZ1B,LOC100131257 dist=109060;dist=140415 NA NA ncRNA_intronic ENSG00000242731 NA NA NA NA NA 7p22.1 NA Name=ERalpha_a NA NA rs4445138 0.45 0.45 0.322 0.433307 0.3688 0.5883 0.4006 0.3805 0.4346 0.41 0.54 0.45 0.42 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454897 NA NA NA NA NA 0.043 NA 4.6312 1189 11 33596123 33596123 T C intronic KIAA1549L NA NA NA intronic ENSG00000110427 NA NA NA NA NA 11p13 NA NA Name=18 NA rs2281379 0.47 0.47 0.477 0.490615 0.3688 0.3552 0.3732 0.7723 0.4581 0.38 0.37 0.39 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188043 NA NA NA NA NA 0.435 NA 4.6312 1189 19 35614274 35614274 G A intronic FXYD3 NA NA NA intronic ENSG00000089356 NA NA NA NA NA 19q13.12 NA NA Name=22 NA rs937089 0.28 0.28 NA 0.341653 0.3688 0.254 0.2507 0.2927 0.5348 0.35 0.22 0.23 0.28 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167965 NA NA NA NA NA NA NA 4.6312 1189 7 47739310 47739310 C T intergenic C7orf65,LINC00525 dist=38064;dist=61764 NA NA intronic ENSG00000136273 NA NA NA NA NA 7p12.3 NA NA NA NA NA NA NA 0.008 0.0105831 0.0358 0.003 0.0173 NA 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466391 NA NA NA NA NA NA NA 4.6308667 1189 3 170371837 170371837 G A intergenic SLC7A14,RPL22L1 dist=67974;dist=210828 NA NA ncRNA_exonic ENSG00000213174 NA NA NA Score=575;Name=lod=290 NA 3q26.2 NA NA NA NA rs6764448 0.33 0.33 0.334 0.32528 0.3698 0.4256 0.4294 0.0726 0.4438 0.36 0.46 0.39 0.08 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0145 NA NA NA NA NA 0.304 NA 4.6302 1189 16 304803 304803 A T intronic ITFG3 NA NA NA intronic ENSG00000167930,ENSG00000269881 NA NA NA NA Name=Mean corpuscular volume 16p13.3 NA NA NA NA rs7189020 0.6 0.6 0.603 0.633786 0.3698 0.6488 0.536 0.9448 0.5389 0.36 0.66 0.53 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761518 NA NA NA NA NA 0.58 NA 4.6302 1189 16 55530762 55530762 G T intronic MMP2 NA NA NA intronic ENSG00000087245 NA NA NA NA NA 16q12.2 NA Name=Max,USF-1 NA NA rs171498 0.26 0.26 0.263 0.27476 0.3698 0.2758 0.2363 0.1286 0.4008 0.35 0.26 0.23 0.14 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.943335 1.943335 NA NA NA NA 0.246 NA 4.6302 1189 19 33444707 33444707 C T exonic CEP89 NA synonymous SNV CEP89:NM_032816:exon4:c.G306A:p.R102R exonic ENSG00000121289 NA synonymous SNV ENSG00000121289:ENST00000591698:exon2:c.G54A:p.R18R,ENSG00000121289:ENST00000305768:exon4:c.G306A:p.R102R,ENSG00000121289:ENST00000586984:exon4:c.G306A:p.R102R,ENSG00000121289:ENST00000590597:exon4:c.G306A:p.R102R NA NA 19q13.11 NA NA NA NA rs10411735 0.41 0.41 0.381 0.398363 0.331 0.3958 0.5807 0.3896 0.3528 0.33 0.42 0.51 0.42 0.3784 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.606117 1.606117 NA 0.327558 0.394008 NA 0.493 NA 4.6297086 1189 22 44602172 44602172 T C intronic PARVG NA NA NA intronic ENSG00000138964 NA NA NA NA NA 22q13.31 NA NA Name=5 NA rs3842785 0.07 0.07 0.062 0.0513179 0.1392 NA 0.0764 0.0106 0.0511 0.14 NA 0.08 0.02 0.0984 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139764 NA NA 0.132791 0.033818 NA 0.087 NA 4.629609 1189 8 119209773 119209773 C T UTR3 SAMD12 NM_001101676:c.*176G>A NA NA UTR3 ENSG00000177570 ENST00000409003:c.*176G>A,ENST00000453675:c.*176G>A NA NA Score=374;Name=lod=44 NA 8q24.12 NA NA NA NA rs2514743 0.68 0.68 0.69 0.64397 0.7038 0.5169 0.6196 0.705 0.6483 0.72 0.6 0.65 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027249 NA NA NA NA NA 0.681 NA 4.6295334 1189 19 57765432 57765432 A G exonic ZNF805 NA synonymous SNV ZNF805:NM_001145078:exon3:c.A846G:p.K282K,ZNF805:NM_001023563:exon4:c.A1245G:p.K415K exonic ENSG00000204524 NA synonymous SNV ENSG00000204524:ENST00000354309:exon3:c.A846G:p.K282K,ENSG00000204524:ENST00000414468:exon4:c.A1245G:p.K415K,ENSG00000204524:ENST00000535550:exon4:c.A846G:p.K282K NA NA 19q13.43 NA NA NA NA rs8100154 0.39 0.39 0.304 0.367013 0.5746 0.1776 0.4481 0.2466 0.454 0.57 0.2 0.48 0.27 0.4627 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547428 NA NA NA NA NA 0.384 NA 4.6293666 1189 8 145737286 145737286 G A intronic RECQL4 NA NA NA intronic ENSG00000160957 NA NA NA NA NA 8q24.3 NA Name=Pol2,GABP NA NA rs756627 0.39 0.39 0.337 0.400559 0.4463 0.5357 0.4971 0.0772 0.5828 0.46 0.49 0.52 0.08 0.467 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078131 NA NA 0.457469 0.138554 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080895.1;CLNDSDB=.;CLNDSDBID=. 4.629231 1189 4 118496919 118496919 T C intergenic TRAM1L1,NDST3 dist=490183;dist=458581 NA NA ncRNA_exonic ENSG00000213492 NA NA NA Score=624;Name=lod=457 NA 4q26 NA NA NA NA rs3811755 0.31 0.31 0.287 0.344449 0.3708 0.4762 0.2392 0.1021 0.5838 0.36 0.47 0.25 0.09 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.021519 NA NA NA NA NA 0.348 NA 4.6292 1189 10 131979 131979 C T intergenic TUBB8,ZMYND11 dist=36801;dist=48426 NA NA ncRNA_intronic ENSG00000232420 NA NA NA NA NA 10p15.3 NA Name=CTCF NA NA rs7902749 0.23 0.23 0.222 0.204673 0.3708 0.1161 0.3055 0.0696 0.2362 0.35 0.12 0.32 0.09 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513001 NA NA NA NA NA 0.283 NA 4.6292 1189 12 96272246 96272246 C T intronic CCDC38 NA NA NA intronic ENSG00000139343,ENSG00000165972 NA NA NA NA NA 12q23.1 NA Name=HEY1,BCLAF1_(M33-P5B11) NA NA rs11829518 0.25 0.25 0.238 0.222244 0.3708 0.0933 0.2075 0.2716 0.1462 0.38 0.07 0.21 0.27 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616334 NA NA NA NA NA 0.355 NA 4.6292 1189 16 2120402 2120402 T C intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs7187438 0.37 0.37 0.417 0.393371 0.3708 0.2212 0.2968 0.7141 0.229 0.33 0.22 0.3 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127828 NA NA NA NA NA 0.391 CLINSIG=untested;CLNDBN=Tuberous_sclerosis_syndrome;CLNREVSTAT=not;CLNACC=RCV000055373.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1220:C0041341:191100:7199000 4.6292 1189 5 128301971 128301971 T C exonic SLC27A6 NA synonymous SNV SLC27A6:NM_001017372:exon1:c.T141C:p.Y47Y,SLC27A6:NM_014031:exon2:c.T141C:p.Y47Y exonic ENSG00000113396 NA synonymous SNV ENSG00000113396:ENST00000262462:exon1:c.T141C:p.Y47Y,ENSG00000113396:ENST00000395266:exon2:c.T141C:p.Y47Y,ENSG00000113396:ENST00000506176:exon2:c.T141C:p.Y47Y NA NA 5q23.3 NA NA NA NA rs2577541 0.24 0.24 0.213 0.203474 0.3678 0.0585 0.255 0.171 0.1912 0.36 0.07 0.31 0.18 0.2919 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.606429 NA NA 0.37814 0.216069 NA 0.138 NA 4.6288266 1189 15 40328665 40328665 G A exonic SRP14 NA synonymous SNV SRP14:NM_003134:exon5:c.C280T:p.L94L exonic ENSG00000140319 NA synonymous SNV ENSG00000140319:ENST00000558720:exon4:c.C40T:p.L14L,ENSG00000140319:ENST00000560773:exon4:c.C40T:p.L14L,ENSG00000140319:ENST00000267884:exon5:c.C280T:p.L94L Score=596;Name=lod=352 NA 15q15.1 NA NA NA NA rs8208 0.48 0.48 0.456 0.457867 0.7058 0.2728 0.4741 0.2973 0.5992 0.71 0.3 0.56 0.29 0.6117 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313524 1.313524 NA 0.720373 0.381976 NA 0.478 NA 4.6287936 1189 11 113283477 113283477 A G exonic DRD2 NA synonymous SNV DRD2:NM_016574:exon6:c.T852C:p.H284H,DRD2:NM_000795:exon7:c.T939C:p.H313H exonic ENSG00000149295 NA synonymous SNV ENSG00000149295:ENST00000346454:exon6:c.T852C:p.H284H,ENSG00000149295:ENST00000542968:exon6:c.T939C:p.H313H,ENSG00000149295:ENST00000544518:exon6:c.T936C:p.H312H,ENSG00000149295:ENST00000362072:exon7:c.T939C:p.H313H,ENSG00000149295:ENST00000538967:exon7:c.T945C:p.H315H,ENSG00000149295:ENST00000355319:exon8:c.T945C:p.H315H Score=374;Name=lod=44 NA 11q23.2 NA NA NA NA rs6275 0.53 0.53 0.506 0.526558 0.6938 0.4712 0.6066 0.3434 0.6022 0.68 0.45 0.62 0.32 0.6411 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805242 NA NA 0.703096 0.387778 NA 0.486 NA 4.6286706 1189 4 156289900 156289900 C T exonic MAP9 NA synonymous SNV MAP9:NM_001039580:exon5:c.G546A:p.L182L exonic ENSG00000164114 NA synonymous SNV ENSG00000164114:ENST00000379248:exon4:c.G327A:p.L109L,ENSG00000164114:ENST00000311277:exon5:c.G546A:p.L182L,ENSG00000164114:ENST00000424373:exon5:c.G546A:p.L182L,ENSG00000164114:ENST00000433024:exon5:c.G543A:p.L181L,ENSG00000164114:ENST00000515654:exon5:c.G546A:p.L182L NA NA 4q32.1 NA NA NA NA rs3733390 0.39 0.39 0.351 0.36901 0.3549 0.6419 0.3963 0.1649 0.3589 0.36 0.64 0.38 0.15 0.3594 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868685 NA NA 0.323837 0.182705 NA 0.246 NA 4.6285296 1189 1 6713114 6713114 C T intronic DNAJC11 NA NA NA intronic ENSG00000007923 NA NA NA NA NA 1p36.31 NA Name=c-Myc NA NA rs2235564 0.32 0.32 0.334 0.324681 0.3718 0.1776 0.3213 0.4107 0.3139 0.35 0.2 0.36 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686523 NA NA NA NA NA 0.399 NA 4.6282 1189 7 63720786 63720786 T A intronic ZNF679 NA NA NA intronic ENSG00000197123 NA NA NA Score=363;Name=lod=40 NA 7q11.21 NA NA NA NA rs199528622 NA NA NA 0.320887 0.3718 0.5853 0.3386 0.0756 0.3149 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329875 NA NA NA NA NA NA NA 4.6282 1189 7 65976610 65976610 G A intergenic LINC00174,LOC493754 dist=111215;dist=41943 NA NA ncRNA_exonic ENSG00000234500 NA NA NA Score=321;Name=lod=27 NA 7q11.21 NA NA NA NA rs6950137 0.38 0.38 0.313 0.407947 0.3718 0.5575 0.3977 0.2436 0.5204 0.37 0.55 0.38 0.21 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414922 NA NA NA NA NA 0.399 NA 4.6282 1189 21 37412752 37412752 T C intronic SETD4 NA NA NA intronic ENSG00000185917,ENSG00000268098 NA NA NA NA NA 21q22.12 NA NA Name=3 NA rs2255858 0.36 0.36 0.349 0.378594 0.3718 0.3403 0.4121 0.3623 0.4233 0.37 0.3 0.41 0.37 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813032 NA NA NA NA NA 0.362 NA 4.6282 1189 2 26536299 26536299 C G exonic GPR113 NA synonymous SNV GPR113:NM_153835:exon6:c.G822C:p.P274P,GPR113:NM_001145169:exon8:c.G1212C:p.P404P,GPR113:NM_001145168:exon9:c.G1419C:p.P473P exonic ENSG00000173567 NA synonymous SNV ENSG00000173567:ENST00000541401:exon3:c.G228C:p.P76P,ENSG00000173567:ENST00000333478:exon6:c.G822C:p.P274P,ENSG00000173567:ENST00000447444:exon6:c.G822C:p.P274P,ENSG00000173567:ENST00000421160:exon8:c.G1212C:p.P404P,ENSG00000173567:ENST00000311519:exon9:c.G1419C:p.P473P NA NA 2p23.3 NA NA NA NA rs11886746 0.35 0.35 0.34 0.39976 0.328 0.3353 0.3228 0.4856 0.4785 0.31 0.28 0.35 0.49 0.3873 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167408 NA NA 0.323256 0.470268 NA 0.514 NA 4.6281106 1189 20 50407162 50407162 T C exonic SALL4 NA synonymous SNV SALL4:NM_020436:exon2:c.A1860G:p.T620T exonic ENSG00000101115 NA synonymous SNV ENSG00000101115:ENST00000217086:exon2:c.A1860G:p.T620T NA NA 20q13.2 NA NA NA NA rs6021437 0.37 0.37 0.311 0.381989 0.336 0.6071 0.3415 0.1982 0.4744 0.32 0.57 0.36 0.2 0.3578 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.682597 NA NA 0.345 0.218339 NA 0.312 NA 4.6278666 1189 1 150960350 150960350 A C exonic ANXA9 NA synonymous SNV ANXA9:NM_003568:exon10:c.A615C:p.A205A exonic ENSG00000143412 NA synonymous SNV ENSG00000143412:ENST00000368947:exon10:c.A615C:p.A205A NA NA 1q21.3 NA NA NA NA rs7532008 0.45 0.45 0.47 0.491813 0.3429 0.5813 0.4092 0.5106 0.5859 0.33 0.6 0.42 0.49 0.3926 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270879 NA NA 0.303605 0.449841 NA 0.399 NA 4.6275616 1189 1 228471379 228471379 G C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon33:c.G8913C:p.R2971R,OBSCN:NM_052843:exon33:c.G8913C:p.R2971R,OBSCN:NM_001271223:exon38:c.G10200C:p.R3400R exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000366706:exon11:c.G2457C:p.R819R,ENSG00000154358:ENST00000359599:exon22:c.G5454C:p.R1818R,ENSG00000154358:ENST00000284548:exon33:c.G8913C:p.R2971R,ENSG00000154358:ENST00000366707:exon33:c.G270C:p.R90R,ENSG00000154358:ENST00000366709:exon33:c.G270C:p.R90R,ENSG00000154358:ENST00000422127:exon33:c.G8913C:p.R2971R,ENSG00000154358:ENST00000570156:exon38:c.G10200C:p.R3400R NA NA 1q42.13 NA NA NA NA rs56168609 0.26 0.26 0.227 0.230232 0.3499 0.1528 0.3242 0.1989 0.1626 0.35 0.15 0.35 0.17 0.3214 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622477 NA NA 0.368129 0.246707 NA 0.268 NA 4.6272376 1189 22 23063645 23063645 T G intergenic GGTLC2,MIR650 dist=73277;dist=101625 NA NA downstream ENSG00000211663 NA NA NA Score=461;Name=lod=100 NA 22q11.22 NA Name=IRF4_(M-17),PU.1,NRSF,BATF,Pbx3,Pol2-4H8,PAX5-N19 Name=37 NA rs11090173 0.77 0.77 0.788 0.791534 0.6133 0.9187 0.7421 0.9024 0.729 0.61 0.92 0.72 0.88 0.6745 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125141 NA NA 0.585162 0.863501 NA 0.703 NA 4.627038 1189 20 44756891 44756891 G A intronic CD40 NA NA NA intronic ENSG00000101017 NA NA NA NA NA 20q13.12 NA Name=Pol2 NA NA rs3765456 0.18 0.18 0.186 0.182308 0.1183 0.4177 0.1037 0.087 0.1902 0.12 0.38 0.12 0.09 0.1409 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861443 NA NA 0.113953 0.113936 NA 0.13 NA 4.626847 1189 15 79224683 79224683 C T intronic CTSH NA NA NA intronic ENSG00000103811 NA NA NA NA Name=Bipolar disorder 15q25.1 NA NA NA NA rs2289700 0.32 0.32 0.325 0.306709 0.0994 0.6389 0.3213 0.3714 0.0798 0.1 0.64 0.23 0.34 0.1768 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099089 NA NA 0.097368 0.34449 NA 0.304 NA 4.626432 1189 3 53886912 53886912 C T exonic IL17RB NA synonymous SNV IL17RB:NM_018725:exon5:c.C369T:p.Y123Y exonic ENSG00000056736 NA synonymous SNV ENSG00000056736:ENST00000288167:exon5:c.C369T:p.Y123Y,ENSG00000056736:ENST00000494338:exon5:c.C369T:p.Y123Y NA NA 3p21.1 NA NA NA NA rs3733075 0.44 0.44 0.447 0.429313 0.3449 0.5913 0.3228 0.4281 0.4264 0.33 0.64 0.35 0.42 0.3667 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.341954 NA NA 0.328837 0.403995 NA 0.435 NA 4.6262296 1189 1 164312587 164312587 G A intergenic NUF2,PBX1 dist=987034;dist=216010 NA NA ncRNA_exonic ENSG00000225719 NA NA NA NA NA 1q23.3 NA Name=PU.1 NA NA rs555162 0.4 0.4 0.382 0.355631 0.3738 0.5823 0.3746 0.2231 0.2689 0.37 0.6 0.41 0.21 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283701 NA NA NA NA NA 0.283 NA 4.6262 1189 9 138457482 138457482 C A intronic PAEP NA NA NA intronic ENSG00000122133 NA NA NA NA NA 9q34.3 NA Name=CTCFL_(SC-98982),CTCF NA NA rs783774 0.12 0.12 0.105 0.147963 0.1849 0.0367 0.1239 0.1566 0.2301 0.17 0.03 0.13 0.13 0.189 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613616 NA NA NA NA NA 0.174 NA 4.6261 1189 8 81905397 81905397 A G exonic PAG1 NA synonymous SNV PAG1:NM_018440:exon4:c.T66C:p.A22A exonic ENSG00000076641 NA synonymous SNV ENSG00000076641:ENST00000220597:exon4:c.T66C:p.A22A NA NA 8q21.13 NA NA NA NA rs2016465 0.5 0.5 0.469 0.523962 0.326 0.5268 0.3156 0.8487 0.4335 0.33 0.55 0.35 0.83 0.392 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603419 NA NA 0.323023 0.737631 NA 0.449 NA 4.6256436 1189 19 55014172 55014172 A T intronic LAIR2 NA NA NA intronic ENSG00000167618 NA NA NA Score=243;Name=lod=13 NA 19q13.42 NA NA NA NA rs73070113 0.07 0.07 0.063 0.057508 0.1392 0.0188 0.0836 0.0023 0.0695 0.13 0.02 0.1 0.01 0.0975 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.10101 2.10101 NA 0.137674 0.023377 NA 0.138 NA 4.625626 1189 9 19026946 19026946 C G intronic FAM154A NA NA NA ncRNA_exonic ENSG00000236680 NA NA NA Score=855;Name=lod=3965 NA 9p22.1 NA NA NA NA rs4483249 0.67 0.67 0.685 0.684505 0.7078 0.5635 0.5893 0.8336 0.6513 0.69 0.57 0.63 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344498 NA NA NA NA NA 0.587 NA 4.6255333 1189 11 95569253 95569253 A C intronic MTMR2 NA NA NA intronic ENSG00000087053 NA NA NA NA NA 11q21 NA Name=RFX5_(N-494),FOXA1_(C-20),SMC3_(ab9263),CTCF,CEBPB,GTF2F1_(RAP-74) NA NA rs627568 0.27 0.27 0.267 0.205471 0.3748 0.2569 0.2349 0.0734 0.136 0.37 0.28 0.28 0.08 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624167 NA NA NA NA NA 0.246 NA 4.6252 1189 12 124171323 124171323 T C intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA Name=2 NA rs7297576 0.33 0.33 0.34 0.336062 0.3748 0.0605 0.3012 0.5643 0.2965 0.38 0.06 0.32 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22612 NA NA NA NA NA 0.304 NA 4.6252 1189 15 91433265 91433265 C G intronic FES NA NA NA intronic ENSG00000182511 NA NA NA NA NA 15q26.1 NA NA Name=2 NA rs4932376 0.45 0.45 0.285 0.452476 0.3748 0.7897 0.5778 0.1097 0.5593 0.36 0.8 0.54 0.11 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00442 NA NA NA NA NA 0.326 NA 4.6252 1189 9 139973614 139973614 T C intronic UAP1L1 NA NA NA intronic ENSG00000197355 NA NA NA NA NA 9q34.3 NA NA Name=4 NA rs118178799 0.07 0.07 0.068 0.0549121 0.1421 NA 0.0937 0.0061 0.0603 0.15 NA 0.12 0.01 0.1013 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517074 NA NA 0.131487 0.029559 ID=COSN398932;OCCURENCE=1(lung) 0.022 NA 4.625113 1190 7 116557939 116557939 C T UTR3 CAPZA2 NM_006136:c.*18C>T NA NA UTR3 ENSG00000198898 ENST00000361183:c.*18C>T,ENST00000458284:c.*280C>T,ENST00000426421:c.*374C>T NA NA Score=732;Name=lod=1254 NA 7q31.2 NA NA NA NA rs3173936 0.27 0.27 0.254 0.259984 0.2336 0.3968 0.2867 0.1596 0.2628 0.23 0.38 0.26 0.19 0.2461 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.763409 1.763409 NA 0.228721 0.182025 NA 0.304 NA 4.6249124 1190 12 52863038 52863038 G A exonic KRT6C NA synonymous SNV KRT6C:NM_173086:exon9:c.C1503T:p.S501S exonic ENSG00000170465 NA synonymous SNV ENSG00000170465:ENST00000252250:exon9:c.C1503T:p.S501S NA NA 12q13.13 NA NA NA NA rs410562 0.33 0.33 0.252 0.2502 0.3628 0.4812 0.2651 0.0242 0.1912 0.36 0.56 0.32 0.04 0.3127 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143798 NA NA 0.366279 0.071266 NA 0.355 NA 4.6248876 1190 9 43400194 43400194 T C intergenic LOC642929,SPATA31A6 dist=254710;dist=224308 NA NA ncRNA_exonic ENSG00000229489 NA NA NA Score=856;Name=lod=4027 NA 9p12 NA NA NA NA rs73648329 NA NA 0.261 0.342252 0.3757 0.3948 0.3847 0.2179 0.3916 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150654 NA NA NA NA NA NA NA 4.6243 1190 6 84233831 84233831 G A exonic PRSS35 NA nonsynonymous SNV PRSS35:NM_153362:exon2:c.G671A:p.R224Q,PRSS35:NM_001170423:exon3:c.G671A:p.R224Q exonic ENSG00000146250 NA nonsynonymous SNV ENSG00000146250:ENST00000369700:exon2:c.G671A:p.R224Q,ENSG00000146250:ENST00000536636:exon3:c.G671A:p.R224Q NA NA 6q14.2 NA NA NA NA rs504593 0.96 0.96 0.958 0.967652 0.8936 1 0.9553 0.9962 0.9806 0.91 1 0.96 1 0.9218 1 0.63 T 0.002 B 0.0 B 0.313 N 1.000 P 0.41 N 0.88 T -0.986 T 0.015 T 0.064 -1.092 0.15 -1.34 -0.874 -0.036 2.455 -1.092421 NA 0.63 0.89407 0.980708 NA 0.913 NA 4.6238634 1190 11 6632857 6632857 A T intronic TAF10 NA NA NA intronic ENSG00000166337 NA NA NA NA NA 11p15.4 NA Name=ZNF263,Pol2 Name=70 NA rs1876300 0.41 0.41 0.389 0.415535 0.4692 0.5635 0.4827 0.1339 0.5409 0.47 0.55 0.47 0.13 0.451 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.734093 1.734093 NA 0.456208 0.176377 NA 0.326 NA 4.623592 1190 2 220417228 220417228 G T intronic OBSL1 NA NA NA intronic ENSG00000124006 NA NA NA NA NA 2q35 NA Name=HA-E2F1 Name=136 NA rs60549465 0.4 0.4 0.343 0.339058 0.4682 0.3819 0.5101 0.2035 0.2239 0.48 0.4 0.45 0.23 0.4657 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.548677 1.548677 NA 0.442586 0.248791 NA 0.377 NA 4.623514 1190 5 149919739 149919739 G C exonic NDST1 NA synonymous SNV NDST1:NM_001543:exon8:c.G1662C:p.T554T exonic ENSG00000070614 NA synonymous SNV ENSG00000070614:ENST00000261797:exon8:c.G1662C:p.T554T,ENSG00000070614:ENST00000523767:exon8:c.G1662C:p.T554T Score=632;Name=lod=492 NA 5q33.1 NA NA NA NA rs1290147 0.78 0.78 0.777 0.806909 0.673 0.7808 0.7233 0.969 0.8119 0.67 0.81 0.73 0.96 0.7156 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.196385 NA NA 0.654651 0.922833 NA 0.71 NA 4.6234156 1190 7 142495127 142495127 G T intergenic PRSS3P2,EPHB6 dist=12728;dist=57665 NA NA upstream;downstream ENSG00000211771;ENSG00000211765,ENSG00000211766,ENSG00000211767,ENSG00000211768,ENSG00000211769,ENSG00000211770 NA NA NA NA NA 7q34 NA Name=Pol2,SUZ12 Name=12 NA rs12532978 0.29 0.29 0.268 NA NA NA NA NA NA 0.46 0.15 0.38 0.14 0.3926 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590167 NA 0.01 0.484386 0.195641 NA NA NA 4.623014 1190 1 47364788 47364788 C T ncRNA_intronic CYP4Z2P NA NA NA ncRNA_intronic ENSG00000154198 NA NA NA NA NA 1p33 NA NA NA NA rs74728515 0.02 0.02 0.022 0.0151757 0.0437 NA 0.0245 0.0038 0.0102 0.04 NA 0.04 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663914 NA NA NA NA NA 0.014 NA 4.6229666 1190 6 30457732 30457732 T C exonic HLA-E NA synonymous SNV HLA-E:NM_005516:exon2:c.T294C:p.N98N exonic ENSG00000204592 NA synonymous SNV ENSG00000204592:ENST00000376630:exon2:c.T294C:p.N98N NA NA 6p21.33 NA Name=TAF1,Pol2,Ini1,Pol2-4H8,E2F6 NA NA rs1059510 0.69 0.69 0.68 0.72484 0.672 0.7083 0.6383 0.7383 0.8395 0.69 0.72 0.62 0.72 0.7036 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.274863 NA NA 0.668392 0.743377 NA 0.732 NA 4.6226746 1190 4 76580894 76580894 G A intronic G3BP2 NA NA NA intronic ENSG00000138757 NA NA NA NA NA 4q21.1 NA NA Name=3 NA rs17000733 0.32 0.32 0.303 0.291733 0.3777 0.0685 0.2781 0.528 0.1237 0.38 0.06 0.3 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494724 NA NA NA NA NA 0.406 NA 4.6223 1190 11 119548698 119548698 T G intronic PVRL1 NA NA NA intronic ENSG00000110400 NA NA NA NA NA 11q23.3 NA Name=KAP1 NA NA rs2292293 0.46 0.46 0.45 0.4375 0.3777 0.5377 0.5086 0.444 0.3364 0.39 0.53 0.49 0.47 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616994 NA NA NA NA NA 0.326 NA 4.6223 1190 15 71152309 71152309 G A intergenic LARP6,THAP10 dist=5811;dist=21372 NA NA ncRNA_exonic ENSG00000259470 NA NA NA NA NA 15q23 NA Name=CTCF NA NA rs111566682 0.26 0.26 0.237 0.242212 0.3777 0.244 0.3617 0.0287 0.3047 0.37 0.25 0.36 0.04 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.964038 NA NA NA NA NA 0.13 NA 4.6223 1190 16 1255277 1255277 C T intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA NA NA NA rs2745150 0.08 0.08 0.073 0.0902556 0.1203 0.0585 0.0807 0.0454 0.1595 0.13 0.05 0.09 0.05 0.1252 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606482 NA NA 0.132626 0.050579 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082069.1;CLNDSDB=.;CLNDSDBID=. 4.621874 1190 9 37745413 37745413 G A exonic FRMPD1 NA synonymous SNV FRMPD1:NM_014907:exon16:c.G3384A:p.E1128E exonic ENSG00000070601 NA synonymous SNV ENSG00000070601:ENST00000377765:exon16:c.G3384A:p.E1128E,ENSG00000070601:ENST00000539465:exon16:c.G3384A:p.E1128E NA NA 9p13.2 NA NA NA NA rs3747541 0.37 0.37 0.373 0.386382 0.332 0.2024 0.4193 0.5847 0.3405 0.34 0.21 0.39 0.6 0.3634 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071804 NA NA 0.349419 0.521562 NA 0.312 NA 4.6218476 1190 7 128415290 128415290 C T intronic OPN1SW NA NA NA intronic ENSG00000128617 NA NA NA NA NA 7q32.1 NA Name=Pol2(b) NA NA rs17476081 0.21 0.21 0.217 0.179113 0.3787 0.0575 0.2277 0.1127 0.1544 0.37 0.05 0.27 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072698 NA NA NA NA NA 0.232 NA 4.6213 1190 22 32346468 32346468 G A intronic YWHAH NA NA NA intronic ENSG00000128245 NA NA NA NA NA 22q12.3 NA NA Name=30 NA rs4820059 0.23 0.23 0.184 0.22484 0.3787 0.1399 0.3501 0.0408 0.3139 0.37 0.13 0.33 0.05 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347321 NA NA NA NA NA 0.159 NA 4.6213 1190 22 41471003 41471003 C T intergenic RBX1,MIR1281 dist=101984;dist=17514 NA NA ncRNA_exonic ENSG00000213857 NA NA NA Score=867;Name=lod=4456 NA 22q13.2 NA NA NA NA rs5751033 0.33 0.33 0.342 0.296326 0.3787 0.5308 0.2478 0.0431 0.3466 0.37 0.54 0.27 0.05 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115216 NA NA NA NA NA 0.348 NA 4.6213 1190 6 32948607 32948607 C T UTR3 BRD2 NM_005104:c.*112C>T,NM_001113182:c.*112C>T,NM_001199455:c.*112C>T,NM_001199456:c.*112C>T NA NA UTR3 ENSG00000204256 ENST00000374825:c.*112C>T,ENST00000374831:c.*112C>T,ENST00000395289:c.*112C>T,ENST00000443797:c.*112C>T,ENST00000482914:c.*2166C>T,ENST00000395287:c.*112C>T,ENST00000449085:c.*112C>T,ENST00000449025:c.*112C>T NA NA NA NA 6p21.32 NA Name=Pol2-4H8,Pol2(b) NA NA rs1049414 0.64 0.64 0.694 0.684904 0.7127 0.7123 0.6931 0.5378 0.8211 0.68 0.68 0.65 0.53 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.511197 NA NA NA NA NA NA NA 4.6206334 1190 14 106471689 106471689 A C intergenic ADAM6,LINC00226 dist=33331;dist=272580 NA NA UTR5 ENSG00000211935 ENST00000390595:c.-8T>G NA NA NA NA 14q32.33 NA Name=Pol2,POU2F2,Oct-2 Name=2 NA rs56372013 0.29 0.29 0.284 0.275759 0.4274 0.3006 0.3156 0.0802 0.3303 0.41 0.3 0.3 0.1 0.3657 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032498 NA NA 0.419619 0.129204 NA 0.217 NA 4.6206144 1190 2 3718692 3718692 C T UTR5 ALLC NM_018436:c.-56C>T NA NA UTR5 ENSG00000151360 ENST00000252505:c.-56C>T NA NA Score=265;Name=lod=16 NA 2p25.3 NA NA NA NA rs13409104 0.37 0.37 0.384 0.345447 0.332 0.2976 0.2291 0.5454 0.2209 0.34 0.33 0.24 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300972 NA NA 0.380893 0.516618 NA 0.377 NA 4.6204404 1190 1 76107473 76107473 C G intergenic SLC44A5,ACADM dist=30674;dist=82570 NA NA ncRNA_exonic ENSG00000230863 NA NA NA Score=737;Name=lod=1315 NA 1p31.1 NA NA NA NA rs211715 0.6 0.6 0.595 0.616214 0.3797 0.9504 0.487 0.6309 0.5869 0.4 0.94 0.46 0.62 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143516 NA NA NA NA NA 0.58 NA 4.6203 1190 1 113668998 113668998 C G intergenic LRIG2,LOC643441 dist=1656;dist=70406 NA NA ncRNA_exonic ENSG00000237278 NA NA NA Score=454;Name=lod=93 NA 1p13.2 NA NA NA NA rs2840294 0.29 0.29 0.269 0.285343 0.3797 0.3631 0.2853 0.0658 0.4049 0.36 0.39 0.33 0.05 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.756912 2.756912 NA NA NA NA 0.268 NA 4.6203 1190 7 138126534 138126534 A G intergenic MIR4468,TRIM24 dist=317967;dist=18545 NA NA ncRNA_exonic ENSG00000214815 NA NA NA Score=850;Name=lod=3804 NA 7q33 NA NA NA NA rs752158 0.44 0.44 0.403 0.436901 0.3797 0.5099 0.5115 0.4107 0.4029 0.38 0.53 0.48 0.38 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09978 NA NA NA NA NA 0.406 NA 4.6203 1190 9 36304017 36304017 G A intergenic GNE,RNF38 dist=26964;dist=32382 NA NA ncRNA_exonic ENSG00000215283 NA NA NA Score=627;Name=lod=472 NA 9p13.2 NA NA NA NA rs10972836 0.24 0.24 0.233 0.202476 0.3797 0.2331 0.2233 0.0673 0.1564 0.37 0.21 0.25 0.09 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.548743 2.548743 NA NA NA NA 0.246 NA 4.6203 1190 3 14489370 14489370 G T UTR3 SLC6A6 NM_001134368:c.*42G>T NA NA UTR3 ENSG00000131389 ENST00000416216:c.*42G>T NA NA NA NA 3p25.1 NA Name=GATA-2 NA NA rs2304511 0.2 0.2 0.189 0.221446 0.2386 0.0605 0.2104 0.3351 0.2239 0.22 0.08 0.22 0.29 0.2346 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990278 NA NA 0.240698 0.332501 NA 0.181 NA 4.6194354 1190 19 17728502 17728502 T C intronic UNC13A NA NA NA intronic ENSG00000130477 NA NA NA NA NA 19p13.11 NA Name=CHD2_(N-1250),NF-YB,SP1,eGFP-JunD,NF-YA,SP2_(SC-643),E2F4,RFX5_(N-494),JunD Name=65 NA rs2287851 0.45 0.45 0.481 0.429313 0.492 0.1329 0.415 0.8147 0.1595 0.48 0.14 0.41 0.78 0.4163 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479017 NA NA 0.472341 0.773148 NA 0.507 NA 4.619359 1190 7 57484871 57484871 G A intergenic MIR3147,ZNF716 dist=12075;dist=25012 NA NA ncRNA_exonic ENSG00000235368 NA NA NA Score=552;Name=lod=233 NA 7p11.2 NA NA NA NA rs11973574 0.33 0.33 0.299 0.344649 0.3807 0.2966 0.4769 0.2587 0.3793 0.37 0.27 0.43 0.28 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188785 NA NA NA NA NA 0.225 NA 4.6193 1190 13 19521070 19521070 G A intergenic ANKRD20A9P,LINC00442 dist=74961;dist=61329 NA NA ncRNA_exonic ENSG00000226057 NA NA NA Score=667;Name=lod=688 NA 13q12.11 NA NA NA NA rs970720 0.48 0.48 0.408 0.448283 0.3807 0.746 0.5965 0.2413 0.3855 0.37 0.75 0.53 0.28 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355036 NA NA NA NA NA 0.341 NA 4.6193 1190 22 41470313 41470313 A G intergenic RBX1,MIR1281 dist=101294;dist=18204 NA NA ncRNA_exonic ENSG00000213857 NA NA NA Score=867;Name=lod=4456 NA 22q13.2 NA NA NA NA rs5758212 0.33 0.33 0.332 0.297923 0.3807 0.5308 0.2579 0.0424 0.3466 0.37 0.54 0.28 0.05 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972248 NA NA NA NA NA 0.348 NA 4.6193 1190 16 58030634 58030634 C T exonic ZNF319 NA synonymous SNV ZNF319:NM_020807:exon2:c.G1536A:p.K512K exonic ENSG00000166188 NA synonymous SNV ENSG00000166188:ENST00000299237:exon2:c.G1536A:p.K512K Score=566;Name=lod=266 NA 16q21 NA NA NA NA rs3743556 0.65 0.65 0.668 0.672324 0.6889 0.5377 0.4899 0.8048 0.7444 0.69 0.51 0.57 0.79 0.6698 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.73618 NA NA 0.689186 0.77252 NA 0.717 NA 4.6187806 1190 1 40149551 40149551 G C intronic HPCAL4 NA NA NA intronic ENSG00000116983 NA NA NA NA NA 1p34.2 NA NA Name=10 NA rs11206617 0.3 0.3 0.269 0.280551 0.3817 0.0734 0.2867 0.4297 0.184 0.4 0.05 0.32 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749812 NA NA NA NA NA 0.217 NA 4.6183 1190 2 38513478 38513478 C T intergenic CYP1B1-AS1,ATL2 dist=104485;dist=8551 NA NA ncRNA_exonic ENSG00000213594 NA NA NA Score=601;Name=lod=369 NA 2p22.2 NA NA NA NA rs2373375 0.42 0.42 0.436 0.469449 0.3817 0.128 0.3775 0.8101 0.5164 0.4 0.14 0.39 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714028 NA NA NA NA NA 0.449 NA 4.6183 1190 6 81265682 81265682 C T intergenic BCKDHB,FAM46A dist=209695;dist=1189765 NA NA ncRNA_exonic ENSG00000216352 NA NA NA Score=834;Name=lod=3270 NA 6q14.1 NA NA NA NA rs10806194 0.41 0.41 0.41 0.457069 0.3817 0.5317 0.513 0.3132 0.6125 0.36 0.52 0.46 0.33 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417711 NA NA NA NA NA 0.362 NA 4.6183 1190 8 70516969 70516969 G A intronic SULF1 NA NA NA intronic ENSG00000137573 NA NA NA NA NA 8q13.3 NA Name=USF-1 NA NA rs4737284 0.48 0.48 0.356 0.457468 0.3817 0.5198 0.5086 0.4697 0.4182 0.38 0.55 0.53 0.53 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087385 NA NA NA NA NA 0.275 NA 4.6183 1190 11 124386765 124386765 C G intergenic OR8B8,OR8B12 dist=75784;dist=25853 NA NA ncRNA_exonic ENSG00000254646 NA NA NA Score=401;Name=lod=57 NA 11q24.2 NA NA NA NA rs10893237 0.53 0.53 0.458 0.499201 0.3817 0.6915 0.5821 0.5408 0.3067 0.38 0.69 0.57 0.56 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077 NA NA NA NA NA 0.413 NA 4.6183 1190 21 40899177 40899177 G A intergenic SH3BGR,C21orf88 dist=11744;dist=69898 NA NA ncRNA_exonic ENSG00000235012 NA NA NA NA NA 21q22.2 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs1006601 0.41 0.41 0.381 0.390176 0.3817 0.7331 0.5115 0.0356 0.4387 0.38 0.72 0.49 0.05 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39802 NA NA NA NA NA 0.457 NA 4.6183 1190 13 101264633 101264633 C T intronic TMTC4 NA NA NA intronic ENSG00000125247 NA NA NA NA NA 13q32.3 NA Name=NFKB Name=25 NA rs1572641 0.52 0.52 0.508 0.520567 0.4592 0.5883 0.5562 0.5098 0.5031 0.47 0.57 0.5 0.55 0.4979 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981055 NA NA 0.425116 0.493872 NA 0.493 NA 4.617784 1190 3 13670481 13670481 A G exonic FBLN2 NA synonymous SNV FBLN2:NM_001998:exon11:c.A2505G:p.T835T,FBLN2:NM_001004019:exon12:c.A2646G:p.T882T,FBLN2:NM_001165035:exon12:c.A2646G:p.T882T exonic ENSG00000163520 NA synonymous SNV ENSG00000163520:ENST00000295760:exon11:c.A2505G:p.T835T,ENSG00000163520:ENST00000535798:exon11:c.A2583G:p.T861T,ENSG00000163520:ENST00000404922:exon12:c.A2646G:p.T882T,ENSG00000163520:ENST00000492059:exon12:c.A2646G:p.T882T NA NA 3p25.1 Score=821;Name=V$MEIS1AHOXA9_01 NA NA NA rs2242023 0.7 0.7 0.634 0.677915 0.6928 0.7629 0.7896 0.5439 0.6769 0.68 0.78 0.8 0.56 0.6923 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069165 NA NA 0.664021 0.583142 NA 0.703 NA 4.6175456 1190 2 233681512 233681512 T G intronic GIGYF2 NA NA NA intronic ENSG00000204120 NA NA NA NA NA 2q37.1 NA NA Name=6 NA rs1078323 0.29 0.29 0.281 0.245607 0.3827 0.123 0.3804 0.2769 0.093 0.38 0.14 0.36 0.26 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172902 NA NA NA NA NA 0.188 NA 4.6173 1190 12 76509636 76509636 G A intergenic NAP1L1,BBS10 dist=30898;dist=228630 NA NA ncRNA_exonic ENSG00000258304 NA NA NA Score=304;Name=lod=23 NA 12q21.2 NA NA NA NA rs36158113 0.43 0.43 0.413 0.465256 0.3827 0.5655 0.4352 0.3449 0.6309 0.38 0.54 0.45 0.37 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223647 NA NA NA NA NA 0.42 NA 4.6173 1190 16 75269534 75269534 C T exonic BCAR1 NA synonymous SNV BCAR1:NM_001170721:exon4:c.G633A:p.P211P,BCAR1:NM_001170715:exon5:c.G1317A:p.P439P,BCAR1:NM_001170716:exon5:c.G1317A:p.P439P,BCAR1:NM_001170717:exon5:c.G1317A:p.P439P,BCAR1:NM_001170718:exon5:c.G1263A:p.P421P,BCAR1:NM_001170719:exon5:c.G1257A:p.P419P,BCAR1:NM_014567:exon5:c.G1263A:p.P421P,BCAR1:NM_001170714:exon6:c.G1401A:p.P467P,BCAR1:NM_001170720:exon6:c.G819A:p.P273P exonic ENSG00000050820 NA synonymous SNV ENSG00000050820:ENST00000162330:exon5:c.G1263A:p.P421P,ENSG00000050820:ENST00000393420:exon5:c.G1317A:p.P439P,ENSG00000050820:ENST00000393422:exon5:c.G1317A:p.P439P,ENSG00000050820:ENST00000420641:exon5:c.G1317A:p.P439P,ENSG00000050820:ENST00000538440:exon5:c.G1263A:p.P421P,ENSG00000050820:ENST00000542031:exon5:c.G1257A:p.P419P,ENSG00000050820:ENST00000546196:exon5:c.G1176A:p.P392P,ENSG00000050820:ENST00000418647:exon6:c.G1401A:p.P467P,ENSG00000050820:ENST00000535626:exon6:c.G819A:p.P273P NA NA 16q23.1 NA NA NA NA rs3743613 0.46 0.46 0.42 0.471845 0.3171 0.8512 0.3703 0.3056 0.5368 0.32 0.84 0.38 0.31 0.426 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.439655 NA NA 0.306305 0.301092 NA 0.297 NA 4.6172616 1190 2 233322424 233322424 T C intronic ALPI NA NA NA intronic ENSG00000163295 NA NA NA NA NA 2q37.1 NA Name=ERalpha_a NA NA rs2246004 0.16 0.16 0.131 0.161941 0.1312 0.2411 0.0865 0.1808 0.1401 0.13 0.24 0.09 0.15 0.1371 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947989 NA NA 0.114535 0.157739 NA 0.13 NA 4.617165 1190 11 72316148 72316148 C G intronic PDE2A NA NA NA intronic ENSG00000186642 NA NA NA NA NA 11q13.4 Score=785;Name=V$PPARG_01 NA NA NA rs78279319 0.07 0.07 0.047 0.0473243 0.1451 NA 0.1052 0.0076 0.0082 0.13 NA 0.11 0.01 0.0955 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140553 NA NA 0.142441 0.027273 NA 0.094 NA 4.616959 1190 10 5197881 5197881 A G ncRNA_exonic AKR1CL1 NA NA NA exonic ENSG00000196326 NA synonymous SNV ENSG00000196326:ENST00000473890:exon4:c.T402C:p.D134D NA NA 10p15.1 NA NA NA NA rs1781931 0.22 0.22 0.207 0.202276 0.2614 0.2222 0.1974 0.1415 0.2065 0.26 0.21 0.21 0.17 0.2884 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344713 NA NA NA NA NA 0.21 NA 4.6168666 1190 1 247836008 247836008 G A exonic OR13G1 NA synonymous SNV OR13G1:NM_001005487:exon1:c.C336T:p.F112F exonic ENSG00000197437 NA synonymous SNV ENSG00000197437:ENST00000359688:exon1:c.C336T:p.F112F NA NA 1q44 NA NA NA NA rs28555391 0.31 0.31 0.307 0.329273 0.3519 0.376 0.2392 0.2965 0.3661 0.35 0.32 0.24 0.28 0.3379 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746655 NA NA 0.360233 0.297776 NA 0.377 NA 4.6166336 1190 2 139659274 139659274 C T intergenic YY1P2,LRP1B dist=2530;dist=1329722 NA NA ncRNA_exonic ENSG00000232992 NA NA NA Score=800;Name=lod=2387 NA 2q22.1 NA NA NA NA rs12470151 0.29 0.29 0.286 0.281749 0.3837 0.2421 0.2752 0.233 0.2883 0.37 0.25 0.29 0.2 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350071 NA NA NA NA NA 0.348 NA 4.6163 1190 2 188690750 188690750 T A intergenic TFPI,GULP1 dist=271531;dist=465646 NA NA ncRNA_exonic ENSG00000235616 NA NA NA Score=711;Name=lod=1037 NA 2q32.1 NA NA NA NA rs4316908 0.3 0.3 0.313 0.308906 0.3837 0.1121 0.3098 0.3517 0.3763 0.37 0.11 0.32 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359379 NA NA NA NA NA 0.384 NA 4.6163 1190 6 81266456 81266456 G A intergenic BCKDHB,FAM46A dist=210469;dist=1188991 NA NA ncRNA_exonic ENSG00000216352 NA NA NA Score=834;Name=lod=3270 NA 6q14.1 NA NA NA NA rs953499 0.51 0.51 0.527 0.576078 0.3837 0.5248 0.549 0.7474 0.6145 0.37 0.52 0.5 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239153 NA NA NA NA NA 0.522 NA 4.6163 1190 6 81266744 81266744 A G intergenic BCKDHB,FAM46A dist=210757;dist=1188703 NA NA ncRNA_exonic ENSG00000216352 NA NA NA Score=834;Name=lod=3270 NA 6q14.1 NA NA NA NA rs2322842 0.53 0.53 0.523 0.605431 0.3837 0.5308 0.5533 0.851 0.6155 0.37 0.52 0.5 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.019598 NA NA NA NA NA 0.536 NA 4.6163 1190 6 29976607 29976607 G A ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs9261112 0.05 0.05 0.048 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082914 NA NA NA NA NA 0.029 NA 4.6159666 1190 17 61607708 61607708 T C exonic KCNH6 NA synonymous SNV KCNH6:NM_030779:exon4:c.T480C:p.H160H,KCNH6:NM_173092:exon4:c.T480C:p.H160H exonic ENSG00000173826 NA synonymous SNV ENSG00000173826:ENST00000314672:exon4:c.T480C:p.H160H,ENSG00000173826:ENST00000456941:exon4:c.T480C:p.H160H,ENSG00000173826:ENST00000580652:exon4:c.T480C:p.H160H,ENSG00000173826:ENST00000581784:exon4:c.T480C:p.H160H,ENSG00000173826:ENST00000583023:exon4:c.T480C:p.H160H NA NA 17q23.3 NA NA NA NA rs7221517 0.31 0.31 0.299 0.28734 0.3797 0.2252 0.3141 0.27 0.2607 0.38 0.22 0.33 0.27 0.3173 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.53578 NA NA 0.353953 0.30345 NA 0.333 NA 4.6157136 1190 7 97944744 97944744 G A intronic BAIAP2L1 NA NA NA intronic ENSG00000006453 NA NA NA NA NA 7q21.3 NA Name=TAL1_(SC-12984),PAX5-C20,PAX5-N19,TCF12,POU2F2,MEF2A,BCL11A,MEF2C_(SC-13268),PU.1,Oct-2 Name=16 NA rs2107716 0.35 0.35 0.332 0.291534 0.4751 0.2629 0.3501 0.2413 0.1585 0.47 0.24 0.37 0.28 0.4072 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088095 NA NA 0.502093 0.281207 NA 0.268 NA 4.615607 1190 3 16242101 16242101 C T intronic GALNT15 NA NA NA intronic ENSG00000131386 NA NA NA NA NA 3p25.1 NA NA Name=48 NA rs3796301 0.16 0.16 0.146 0.188698 0.1093 0.1885 0.2334 0.1589 0.2791 0.1 0.21 0.23 0.15 0.155 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325544 NA NA 0.120116 0.152519 NA 0.196 NA 4.615584 1190 6 74229792 74229792 A G intronic EEF1A1 NA NA NA UTR5 ENSG00000156508 ENST00000316292:c.-43T>C NA NA NA NA 6q13 NA Name=Pol2,Pol2-4H8,HEY1,TBP NA NA rs2073465 0.16 0.16 0.141 0.161542 0.1958 0.2252 0.1787 0.0666 0.1769 0.2 0.2 0.15 0.07 0.1867 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44662 NA NA 0.16862 0.080415 NA 0.094 NA 4.6155467 1190 5 30365717 30365717 C T intergenic LSP1P3,CDH6 dist=1438297;dist=828045 NA NA ncRNA_exonic ENSG00000250118 NA NA NA Score=539;Name=lod=206 NA 5p13.3 NA NA NA NA rs13175468 0.19 0.19 0.188 0.176917 0.3847 0.002 0.196 0.1006 0.2331 0.38 NA 0.24 0.1 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719154 NA NA NA NA NA 0.225 NA 4.6153 1190 5 56718875 56718875 T C intergenic GPBP1,ACTBL2 dist=158369;dist=56968 NA NA ncRNA_exonic ENSG00000250308 NA NA NA Score=640;Name=lod=532 NA 5q11.2 NA NA NA NA rs2172771 0.21 0.21 0.175 0.180711 0.3847 0.0357 0.3444 0.0242 0.2157 0.37 0.04 0.37 0.04 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471698 NA NA NA NA NA 0.239 NA 4.6153 1190 5 56719995 56719995 G C intergenic GPBP1,ACTBL2 dist=159489;dist=55848 NA NA ncRNA_exonic ENSG00000250308 NA NA NA Score=688;Name=lod=836 NA 5q11.2 NA NA NA NA rs955661 0.21 0.21 0.174 0.180511 0.3847 0.0357 0.3473 0.0242 0.2127 0.37 0.04 0.38 0.04 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145188 NA NA NA NA NA 0.239 NA 4.6153 1190 6 31249127 31249127 G A intergenic HLA-C,HLA-B dist=9214;dist=72522 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs2253487 0.39 0.39 0.367 0.351238 0.3847 0.4306 0.3573 0.2625 0.3507 0.41 0.43 0.38 0.3 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537284 NA NA NA NA NA 0.348 NA 4.6153 1190 12 76509735 76509735 G A intergenic NAP1L1,BBS10 dist=30997;dist=228531 NA NA ncRNA_exonic ENSG00000258304 NA NA NA NA NA 12q21.2 NA Name=USF-1 NA NA rs146387771 0.37 0.37 0.401 0.46226 0.3847 0.5595 0.4337 0.3404 0.6268 0.33 0.47 0.4 0.3 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057544 NA NA NA NA NA NA NA 4.6153 1190 12 76509736 76509736 T C intergenic NAP1L1,BBS10 dist=30998;dist=228530 NA NA ncRNA_exonic ENSG00000258304 NA NA NA NA NA 12q21.2 NA Name=USF-1 NA NA rs139422052 0.37 0.37 0.397 0.46226 0.3847 0.5595 0.4337 0.3404 0.6268 0.33 0.47 0.4 0.3 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12835 NA NA NA NA NA NA NA 4.6153 1191 19 55222293 55222293 G A ncRNA_exonic LILRP2 NA NA NA ncRNA_intronic ENSG00000170858,ENSG00000240258 NA NA NA NA NA 19q13.42 NA NA NA NA rs74446042 0.07 0.07 0.061 0.0744808 0.0517 0.1389 0.085 0.0234 0.093 0.06 0.13 0.08 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547026 NA NA NA NA NA 0.058 NA 4.6149666 1191 14 22392703 22392703 G C intergenic OR4E2,DAD1 dist=258465;dist=641104 NA NA exonic ENSG00000211792 NA nonsynonymous SNV ENSG00000211792:ENST00000390440:exon2:c.G226C:p.E76Q NA NA 14q11.2 NA Name=CTCF NA NA rs8021861 0.48 0.48 0.493 0.465855 0.3956 0.504 0.513 0.5091 0.407 0.41 0.55 0.46 0.51 0.4268 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.422697 NA 1 0.396036 0.464002 NA 0.514 NA 4.6148974 1191 5 55455645 55455645 G C intronic ANKRD55 NA NA NA intronic ENSG00000164512 NA NA NA NA NA 5q11.2 NA NA Name=35 NA rs13186299 0.07 0.07 0.057 0.0433307 0.1412 NA 0.0692 0.0106 0.0133 0.14 0.0017 0.09 0.01 0.096 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261302 NA NA 0.147907 0.033364 NA 0.051 NA 4.614893 1191 19 1367226 1367226 G A intronic MUM1 NA NA NA intronic ENSG00000160953 NA NA NA Score=346;Name=lod=34 NA 19p13.3 NA NA NA NA rs11668809 0.09 0.09 0.088 0.103235 0.1243 0.0149 0.0922 0.1445 0.1247 0.13 0.02 0.08 0.1 0.1216 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.942405 1.942405 NA 0.139302 0.150477 NA 0.094 NA 4.614798 1191 2 228122239 228122239 T C ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs56326869 0.01 0.01 0.011 0.00978435 0.0209 0.001 0.013 0.003 0.0143 0.02 NA 0.01 0.0041 NA 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282635 NA NA 0.031113 0.004335 NA 0.014 NA 4.6146536 1191 5 1235939 1235939 A G intronic SLC6A18 NA NA NA intronic ENSG00000164363 NA NA NA NA NA 5p15.33 NA Name=SETDB1,KAP1 NA NA rs11956561 0.32 0.32 0.314 0.324481 0.3857 0.2272 0.3703 0.2315 0.455 0.38 0.24 0.37 0.27 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575984 NA NA NA NA NA 0.304 NA 4.6143 1191 6 31249229 31249229 T C intergenic HLA-C,HLA-B dist=9316;dist=72420 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs2853941 0.39 0.39 0.364 0.351438 0.3857 0.4306 0.3588 0.2617 0.3507 0.41 0.43 0.38 0.3 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608345 NA NA NA NA NA 0.348 NA 4.6143 1191 5 74034245 74034245 G A intronic GFM2 NA NA NA intronic ENSG00000164347 NA NA NA Score=563;Name=lod=260 NA 5q13.3 NA NA NA NA rs7732843 0.14 0.14 0.147 0.139177 0.1382 0.0208 0.1196 0.2829 0.0818 0.11 0.02 0.14 0.31 0.1239 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894551 NA NA 0.124186 0.266228 NA 0.203 NA 4.613714 1191 3 174095478 174095478 T C intergenic NLGN1,NAALADL2 dist=94362;dist=481633 NA NA ncRNA_exonic ENSG00000213169 NA NA NA Score=712;Name=lod=1045 NA 3q26.31 NA NA NA NA rs2090714 0.34 0.34 0.299 0.35024 0.3867 0.2381 0.3703 0.3608 0.3998 0.39 0.22 0.37 0.38 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918569 NA NA NA NA NA 0.399 NA 4.6133 1191 7 66459145 66459145 A C intronic SBDS NA NA NA intronic ENSG00000126524 NA NA NA NA NA 7q11.21 NA NA Name=8 NA rs11763269 0.24 0.24 0.175 0.26278 0.3867 0.1369 0.4553 0.0741 0.3834 0.34 0.15 0.41 0.08 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149233 NA NA NA NA NA 0.174 NA 4.6133 1191 16 56701827 56701827 T C intronic MT1G NA NA NA intronic ENSG00000125144 NA NA NA NA NA 16q13 NA Name=TBP,Pol2 NA NA rs12448654 0.09 0.09 NA 0.0824681 0.1322 0.0903 0.1225 0.0174 0.0828 0.14 0.08 0.11 0.02 0.1229 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066926 NA NA 0.131744 0.038899 NA 0.08 NA 4.613156 1191 3 54914996 54914996 A G ncRNA_intronic CACNA2D3-AS1 NA NA NA ncRNA_intronic ENSG00000243715 NA NA NA NA NA 3p14.3 NA NA NA NA rs9866865 0.09 0.09 0.092 0.120607 0.0537 0.0685 0.0461 0.2148 0.1687 0.05 0.06 0.06 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207229 NA NA NA NA NA 0.188 NA 4.6129666 1191 4 39459154 39459154 G A intronic RPL9 NA NA NA intronic ENSG00000163682 NA NA NA NA NA 4p14 NA NA Name=6 NA rs2608830 0.16 0.16 0.143 0.154553 0.1909 0.1875 0.2219 0.0522 0.1738 0.17 0.18 0.22 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776099 NA NA 0.196399 0.071747 NA 0.138 NA 4.612701 1191 21 46122658 46122658 G C intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000236382 NA NA NA Score=378;Name=lod=46 NA 21q22.3 NA NA NA NA rs9982962 0.7 0.7 0.707 0.723842 0.7207 0.6081 0.6844 0.7958 0.7771 0.72 0.56 0.72 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384228 NA NA NA NA NA 0.319 NA 4.6126333 1191 11 19197365 19197365 G A intronic ZDHHC13 NA NA NA intronic ENSG00000177054 NA NA NA Score=574;Name=lod=286 NA 11p15.1 NA NA NA NA rs78603780 0.1 0.1 0.078 0.0992412 0.1571 0.003 0.111 0.1384 0.0777 0.16 0.0017 0.14 0.11 0.1092 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320792 1.320792 NA 0.121368 0.138119 NA 0.043 NA 4.612332 1191 1 28212272 28212272 G A intronic THEMIS2 NA NA NA intronic ENSG00000130775 NA NA NA NA NA 1p35.3 NA NA Name=9 NA rs11247705 0.49 0.49 0.491 0.480032 0.3877 0.497 0.4063 0.6853 0.3323 0.39 0.51 0.42 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475721 NA NA NA NA NA 0.384 NA 4.6123 1191 7 91758111 91758111 A G intronic CYP51A1 NA NA NA intronic ENSG00000001630 NA NA NA NA NA 7q21.2 NA Name=CTCF NA NA rs7784248 0.37 0.37 0.369 0.3752 0.3877 0.1617 0.3588 0.5106 0.411 0.39 0.17 0.38 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253765 NA NA NA NA NA 0.413 NA 4.6123 1191 9 130169301 130169301 G A intronic SLC2A8 NA NA NA intronic ENSG00000136856 NA NA NA NA NA 9q33.3 NA Name=CTCF NA NA rs4075850 0.28 0.28 0.298 0.283347 0.3877 0.1567 0.2349 0.2632 0.3681 0.39 0.12 0.26 0.32 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630657 NA NA NA NA NA 0.21 NA 4.6123 1191 11 60640480 60640480 C A intronic ZP1 NA NA NA intronic ENSG00000149506 NA NA NA NA NA 11q12.2 NA Name=NRSF NA NA rs2072098 0.32 0.32 0.32 0.300519 0.3877 0.3224 0.3905 0.1104 0.3814 0.39 0.33 0.4 0.14 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287571 NA NA NA NA NA 0.304 NA 4.6123 1191 11 60642325 60642325 G A intronic ZP1 NA NA NA intronic ENSG00000149506 NA NA NA NA NA 11q12.2 NA NA Name=5 NA rs2074418 0.31 0.31 0.306 0.295527 0.3877 0.3194 0.389 0.0946 0.3814 0.39 0.33 0.4 0.12 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359589 NA NA NA NA NA 0.333 NA 4.6123 1191 16 11010150 11010150 G T intronic CIITA NA NA NA intronic ENSG00000179583 NA NA NA NA NA 16p13.13 NA NA Name=18 NA rs6498130 0.35 0.35 0.353 0.36242 0.3877 0.2292 0.2911 0.4841 0.3599 0.4 0.23 0.29 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029232 NA NA NA NA NA 0.384 NA 4.6123 1191 5 131647677 131647677 C T ncRNA_exonic LOC553103 NA NA NA ncRNA_exonic ENSG00000233006 NA NA NA NA NA 5q31.1 NA NA NA NA rs77719114 0.03 0.03 0.017 0.0199681 0.0547 NA 0.0591 0.003 NA 0.04 NA 0.07 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712987 NA NA NA NA NA 0.043 NA 4.6119666 1191 1 159505297 159505297 C T exonic OR10J5 NA synonymous SNV OR10J5:NM_001004469:exon1:c.G501A:p.P167P exonic ENSG00000184155 NA synonymous SNV ENSG00000184155:ENST00000334857:exon1:c.G501A:p.P167P NA NA 1q23.2 Score=819;Name=V$IRF7_01 NA NA NA rs4656837 0.57 0.57 0.567 0.552915 0.6948 0.494 0.6614 0.2943 0.7403 0.69 0.52 0.7 0.34 0.6475 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.567111 NA NA 0.712674 0.37517 ID=COSM146661;OCCURENCE=1(stomach) 0.58 NA 4.6116926 1191 6 56381912 56381912 G A ncRNA_intronic RNU6-71P NA NA NA intronic ENSG00000151914 NA NA NA NA NA 6p12.1 NA NA Name=2 NA rs4715626 0.67 0.67 0.646 0.632987 0.7217 0.6488 0.7133 0.5076 0.638 0.74 0.67 0.69 0.53 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731227 NA NA NA NA NA 0.703 NA 4.6116333 1191 2 3597974 3597974 T C exonic RNASEH1 NA synonymous SNV RNASEH1:NM_002936:exon4:c.A498G:p.P166P exonic ENSG00000171865 NA synonymous SNV ENSG00000171865:ENST00000315212:exon4:c.A498G:p.P166P NA NA 2p25.3 NA NA NA NA rs10186193 0.37 0.37 0.379 0.375599 0.3479 0.2371 0.2305 0.6233 0.3149 0.35 0.24 0.24 0.65 0.341 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325249 NA NA 0.366279 0.59714 NA 0.601 NA 4.6114876 1191 19 46974306 46974306 A C UTR5 PNMAL1 NM_018215:c.-14T>G,NM_001103149:c.-14T>G NA NA UTR5 ENSG00000182013 ENST00000438932:c.-14T>G,ENST00000313683:c.-14T>G,ENST00000602246:c.-14T>G NA NA NA NA 19q13.32 NA Name=ZNF263,CTCF NA NA rs12978825 0.23 0.23 0.224 0.22484 0.2485 0.1796 0.2032 0.2912 0.1728 0.25 0.15 0.26 0.29 0.2293 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689687 NA NA 0.244186 0.320245 NA 0.29 NA 4.6113474 1191 2 38513390 38513390 C G intergenic CYP1B1-AS1,ATL2 dist=104397;dist=8639 NA NA ncRNA_exonic ENSG00000213594 NA NA NA Score=730;Name=lod=1240 NA 2p22.2 NA NA NA NA rs2373374 0.29 0.29 0.286 0.307109 0.3887 0.1329 0.3329 0.3177 0.3701 0.39 0.15 0.33 0.27 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378627 NA NA NA NA NA 0.377 NA 4.6113 1191 5 118883215 118883215 A G intergenic HSD17B4,FAM170A dist=5185;dist=82039 NA NA ncRNA_exonic ENSG00000213663 NA NA NA Score=719;Name=lod=1118 NA 5q23.1 NA NA NA NA rs442919 0.25 0.25 0.238 0.253794 0.3887 0.0833 0.2896 0.1679 0.3814 0.38 0.09 0.32 0.2 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184651 NA NA NA NA NA 0.355 NA 4.6113 1191 6 4189964 4189964 T C intergenic ECI2,CDYL dist=54133;dist=586716 NA NA ncRNA_exonic ENSG00000216307 NA NA NA Score=667;Name=lod=687 NA 6p25.2 NA NA NA NA rs12212264 0.36 0.36 0.334 0.332069 0.3887 0.4841 0.3372 0.1793 0.32 0.38 0.5 0.34 0.18 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855215 NA NA NA NA NA 0.297 NA 4.6113 1191 7 16890228 16890228 C T intergenic AGR2,AGR3 dist=45490;dist=8802 NA NA ncRNA_exonic ENSG00000270593 NA NA NA NA NA 7p21.1 NA NA Name=7 NA rs11765170 0.45 0.45 0.442 0.485224 0.3887 0.4216 0.3573 0.6346 0.5389 0.37 0.44 0.37 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413743 NA NA NA NA NA 0.471 NA 4.6113 1191 11 3439479 3439479 G A intergenic LOC650368,TRPC2 dist=9101;dist=208211 NA NA ncRNA_exonic ENSG00000166492 NA NA NA Score=340;Name=lod=32 NA 11p15.4 NA NA NA NA rs10834001 0.39 0.39 0.391 0.376198 0.3887 0.4117 0.4337 0.3056 0.3814 0.4 0.41 0.41 0.35 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221384 NA NA NA NA NA 0.058 NA 4.6113 1191 13 111562803 111562803 T C intronic ANKRD10 NA NA NA intronic ENSG00000088448 NA NA NA NA NA 13q34 NA NA Name=18 NA rs35930208 0.28 0.28 0.254 0.301917 0.3887 0.1706 0.3242 0.2103 0.456 0.38 0.17 0.34 0.18 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221593 NA NA NA NA NA 0.333 NA 4.6113 1191 19 39964247 39964247 G A intronic SUPT5H NA NA NA intronic ENSG00000196235 NA NA NA NA NA 19q13.2 NA NA Name=3 NA rs4803244 0.46 0.46 0.464 0.495208 0.3887 0.4613 0.4006 0.621 0.5368 0.39 0.42 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.942957 NA NA NA NA NA 0.42 NA 4.6113 1191 10 54076271 54076271 A G intronic DKK1 NA NA NA intronic ENSG00000107984 NA NA NA NA NA 10q21.1 NA Name=Pol2 Name=65 NA rs1569198 0.36 0.36 0.348 0.317891 0.493 0.1687 0.3905 0.2776 0.2945 0.49 0.2 0.44 0.29 0.4128 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782723 NA NA 0.483023 0.312982 NA 0.377 NA 4.611177 1191 2 29455267 29455267 A G exonic ALK NA synonymous SNV ALK:NM_004304:exon15:c.T2535C:p.G845G exonic ENSG00000171094 NA synonymous SNV ENSG00000171094:ENST00000389048:exon15:c.T2535C:p.G845G Score=415;Name=lod=65 NA 2p23.2 NA NA NA NA rs2256740 0.51 0.51 0.511 0.5 0.7247 0.1746 0.5476 0.534 0.5245 0.69 0.19 0.57 0.54 0.6121 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.09772 NA NA 0.718837 0.549251 ID=COSM148825;OCCURENCE=1(stomach) 0.63 NA 4.6110296 1191 5 66085585 66085585 A G intronic MAST4 NA NA NA intronic ENSG00000069020 NA NA NA NA NA 5q12.3 NA NA Name=3 NA rs35948700 0.07 0.07 0.059 0.0557109 0.1471 0.004 0.1239 0.0053 0.0348 0.14 NA 0.12 0.01 0.1114 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074345 NA NA 0.130839 0.026826 NA 0.094 NA 4.610661 1191 19 14846897 14846897 T A UTR3 EMR2 NM_013447:c.*151A>T,NM_001271052:c.*151A>T NA NA UTR3 ENSG00000127507 ENST00000353005:c.*151A>T,ENST00000353876:c.*151A>T,ENST00000346057:c.*151A>T,ENST00000392967:c.*151A>T,ENST00000315576:c.*151A>T,ENST00000596991:c.*151A>T NA NA NA NA 19p13.12 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs1859257 0.77 0.77 0.778 0.81849 0.7227 0.8284 0.6614 0.9319 0.865 0.73 0.77 0.65 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18803 NA NA NA NA NA 0.754 NA 4.6106334 1191 11 119206375 119206375 G A exonic RNF26 NA synonymous SNV RNF26:NM_032015:exon1:c.G543A:p.T181T exonic ENSG00000173456 NA synonymous SNV ENSG00000173456:ENST00000311413:exon1:c.G543A:p.T181T NA NA 11q23.3 NA Name=TAF1 NA NA rs2511841 0.68 0.68 0.658 0.725639 0.659 0.6607 0.7349 0.7421 0.8323 0.65 0.67 0.71 0.71 0.7202 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172999 NA NA 0.67695 0.71055 NA 0.645 NA 4.6105166 1191 10 126681219 126681219 G C intronic CTBP2 NA NA NA intronic ENSG00000175029 NA NA NA NA NA 10q26.13 NA Name=Rad21,CTCF,SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916) Name=129 NA rs3213907 0.53 0.53 NA 0.548922 0.7247 0.7411 0.4467 0.1823 0.7382 0.67 0.67 0.48 0.2 0.6648 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102412 NA NA NA NA NA 0.529 NA 4.6105 1191 7 16890225 16890225 C G intergenic AGR2,AGR3 dist=45487;dist=8805 NA NA ncRNA_exonic ENSG00000270593 NA NA NA NA NA 7p21.1 NA NA Name=7 NA rs11765147 0.45 0.45 0.444 0.485423 0.3897 0.4216 0.3573 0.6346 0.5389 0.37 0.44 0.37 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029095 NA NA NA NA NA 0.471 NA 4.6103 1191 11 3435129 3435129 A G intergenic LOC650368,TRPC2 dist=4751;dist=212561 NA NA ncRNA_exonic ENSG00000166492 NA NA NA Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs2898904 0.25 0.25 0.214 0.316693 0.3897 0.4028 0.3343 0.1014 0.4315 0.31 0.3 0.26 0.12 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479259 NA NA NA NA NA NA NA 4.6103 1191 12 75057687 75057687 G A intergenic ATXN7L3B,KCNC2 dist=122455;dist=376171 NA NA ncRNA_exonic ENSG00000188646 NA NA NA Score=627;Name=lod=471 NA 12q21.1 NA NA NA NA rs7311420 0.5 0.5 0.495 0.526158 0.3897 0.3651 0.4352 0.8351 0.4796 0.41 0.39 0.43 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205291 NA NA NA NA NA 0.478 NA 4.6103 1191 17 994812 994812 G A intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA Name=ZNF263 NA NA rs2257526 0.39 0.39 0.408 0.399361 0.3897 0.4712 0.2421 0.3722 0.4836 0.4 0.47 0.23 0.4 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581652 NA NA NA NA NA 0.319 NA 4.6103 1191 21 43710052 43710052 C T intronic ABCG1 NA NA NA intronic ENSG00000160179 NA NA NA NA NA 21q22.3 Score=925;Name=V$MEIS1_01 NA NA NA rs4148137 0.34 0.34 0.323 0.326278 0.3897 0.3363 0.3703 0.2315 0.3476 0.38 0.35 0.43 0.2 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241305 NA NA NA NA NA 0.384 NA 4.6103 1191 15 79185877 79185877 A G intronic MORF4L1 NA NA NA intronic ENSG00000185787 NA NA NA NA NA 15q25.1 NA NA Name=6 NA rs1836556 0.16 0.16 0.143 0.140775 0.1262 0.254 0.1326 0.1157 0.0787 0.13 0.26 0.12 0.11 0.1364 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33923 NA NA 0.127129 0.110883 NA 0.13 NA 4.610271 1191 11 2432964 2432964 T C exonic TRPM5 NA synonymous SNV TRPM5:NM_014555:exon17:c.A2508G:p.T836T exonic ENSG00000070985 NA synonymous SNV ENSG00000070985:ENST00000155858:exon17:c.A2508G:p.T836T,ENSG00000070985:ENST00000452833:exon17:c.A2514G:p.T838T,ENSG00000070985:ENST00000528453:exon17:c.A2508G:p.T836T,ENSG00000070985:ENST00000533060:exon17:c.A2508G:p.T836T,ENSG00000070985:ENST00000533881:exon17:c.A2490G:p.T830T NA NA 11p15.5 NA NA NA NA rs2074234 0.35 0.35 0.308 0.33107 0.3509 0.4643 0.366 0.2027 0.3221 0.33 0.48 0.36 0.21 0.355 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072987 NA NA 0.350547 0.240917 NA 0.341 NA 4.6102196 1191 13 52603775 52603775 C T exonic UTP14C NA synonymous SNV UTP14C:NM_021645:exon2:c.C835T:p.L279L exonic ENSG00000253797 NA synonymous SNV ENSG00000253797:ENST00000521776:exon2:c.C835T:p.L279L Score=609;Name=lod=397 NA 13q14.3 NA NA NA NA rs3742291 0.56 0.56 0.53 0.510583 0.7227 0.5952 0.6412 0.2005 0.5317 0.71 0.58 0.67 0.21 0.6288 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.913871 NA NA 0.705233 0.289605 NA 0.529 NA 4.6099336 1191 8 99057150 99057150 C A intronic RPL30 NA NA NA UTR3 ENSG00000156482 ENST00000518850:c.*17G>T NA NA NA NA 8q22.2 NA Name=Pol2-4H8,CTCF_(SC-5916),c-Myc,Pol2 Name=9 NA rs11777189 0.3 0.3 0.295 0.250799 0.5586 0.0794 0.3242 0.1278 0.2249 0.56 0.06 0.38 0.12 0.419 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199103 NA NA 0.579302 0.205175 NA 0.319 NA 4.6097647 1191 1 11293147 11293147 C T intronic MTOR NA NA NA ncRNA_exonic ENSG00000238173 NA NA NA Score=603;Name=lod=375 NA 1p36.22 NA NA NA NA rs11121702 0.7 0.7 0.666 0.694489 0.7237 0.9187 0.8112 0.3116 0.8681 0.73 0.91 0.8 0.32 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240642 NA NA NA NA NA 0.688 NA 4.6096333 1191 4 2993980 2993980 T C exonic GRK4 NA synonymous SNV GRK4:NM_001004056:exon3:c.T204C:p.D68D,GRK4:NM_001004057:exon4:c.T300C:p.D100D,GRK4:NM_182982:exon4:c.T300C:p.D100D exonic ENSG00000125388 NA synonymous SNV ENSG00000125388:ENST00000345167:exon3:c.T204C:p.D68D,ENSG00000125388:ENST00000398051:exon3:c.T204C:p.D68D,ENSG00000125388:ENST00000398052:exon4:c.T300C:p.D100D,ENSG00000125388:ENST00000504933:exon4:c.T300C:p.D100D NA NA 4p16.3 NA NA NA NA rs2515941 0.32 0.32 0.302 0.292532 0.3767 0.0942 0.3256 0.4644 0.1544 0.38 0.1 0.34 0.45 0.3212 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006909 NA NA 0.359302 0.432365 NA 0.225 NA 4.6094646 1191 3 110401766 110401766 G A intergenic FLJ25363,PVRL3-AS1 dist=1187752;dist=362397 NA NA ncRNA_exonic ENSG00000244722 NA NA NA Score=805;Name=lod=2493 NA 3q13.13 NA NA NA NA rs4510407 0.19 0.19 0.17 0.157947 0.3907 0.0188 0.1974 0.0333 0.2025 0.39 0.02 0.23 0.05 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.406067 1.406067 NA NA NA NA 0.188 NA 4.6093 1191 19 45835983 45835983 A G intergenic CKM,KLC3 dist=9748;dist=8015 NA NA ncRNA_exonic ENSG00000242675 NA NA NA Score=713;Name=lod=1058 NA 19q13.32 NA NA NA NA rs12972151 0.22 0.22 0.196 0.225839 0.3907 0.0754 0.1945 0.115 0.3834 0.39 0.08 0.23 0.12 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005669 NA NA NA NA NA 0.304 NA 4.6093 1191 19 56832040 56832040 G A intergenic ZSCAN5A,ZNF542 dist=92381;dist=47428 NA NA ncRNA_exonic ENSG00000266907 NA NA NA Score=766;Name=lod=1730 NA 19q13.43 NA NA NA NA rs11881864 0.39 0.39 0.403 0.367612 0.3907 0.4335 0.4236 0.3245 0.2945 0.36 0.45 0.44 0.31 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076795 NA NA NA NA NA 0.384 NA 4.6093 1191 20 31629911 31629911 G A intronic BPIFB6 NA NA NA intronic ENSG00000167104 NA NA NA NA NA 20q11.21 Score=734;Name=V$SRF_01 NA NA NA rs2070319 0.48 0.48 0.458 0.501997 0.3907 0.7232 0.4625 0.4024 0.5511 0.39 0.71 0.44 0.4 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802699 NA NA NA NA NA 0.449 NA 4.6093 1191 1 34071525 34071525 C T exonic CSMD2 NA nonsynonymous SNV CSMD2:NM_052896:exon42:c.G6287A:p.R2096K exonic ENSG00000121904 NA nonsynonymous SNV ENSG00000121904:ENST00000241312:exon42:c.G6287A:p.R2096K NA NA 1p35.1 NA NA NA NA rs1874045 0.54 0.54 0.47 0.518371 0.5755 0.5516 0.6787 0.323 0.5757 0.58 0.58 0.65 0.34 0.5727 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735332 NA 0 0.57593 0.395824 ID=COSM1600090;OCCURENCE=1(central_nervous_system) 0.471 NA 4.6092034 1191 20 55033635 55033635 C T exonic CASS4 NA synonymous SNV CASS4:NM_001164115:exon5:c.C882T:p.N294N,CASS4:NM_001164114:exon6:c.C2031T:p.N677N,CASS4:NM_020356:exon6:c.C2193T:p.N731N,CASS4:NM_001164116:exon7:c.C2193T:p.N731N exonic ENSG00000087589 NA synonymous SNV ENSG00000087589:ENST00000434344:exon5:c.C882T:p.N294N,ENSG00000087589:ENST00000371336:exon6:c.C2193T:p.N731N,ENSG00000087589:ENST00000360314:exon7:c.C2193T:p.N731N NA NA 20q13.31 NA NA NA NA rs3746624 0.37 0.37 0.328 0.36861 0.335 0.6786 0.4784 0.0711 0.408 0.32 0.66 0.43 0.08 0.3865 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447398 NA NA 0.336047 0.11212 NA 0.21 NA 4.6091196 1191 6 16327615 16327615 A G exonic ATXN1 NA synonymous SNV ATXN1:NM_001128164:exon7:c.T927C:p.A309A,ATXN1:NM_000332:exon8:c.T927C:p.A309A exonic ENSG00000124788 NA synonymous SNV ENSG00000124788:ENST00000436367:exon7:c.T927C:p.A309A,ENSG00000124788:ENST00000244769:exon8:c.T927C:p.A309A NA NA 6p22.3 NA NA NA NA rs179990 0.76 0.76 0.743 0.780152 0.661 0.8552 0.7954 0.798 0.7904 0.65 0.85 0.79 0.82 0.732 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560498 NA NA 0.665116 0.789605 NA 0.725 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116475.2;CLNDSDB=.;CLNDSDBID=. 4.6085506 1191 19 59056752 59056752 G C intronic TRIM28 NA NA NA UTR5 ENSG00000130726 ENST00000597968:c.-102G>C NA NA NA NA 19q13.43 NA Name=E2F4 NA NA rs2305122 0.16 0.16 0.167 0.164337 0.2157 0.0565 0.1671 0.1884 0.1881 0.2 0.06 0.17 0.22 0.1709 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171731 NA NA 0.171744 0.177485 NA 0.217 NA 4.6083227 1191 19 45836204 45836204 G A intergenic CKM,KLC3 dist=9969;dist=7794 NA NA ncRNA_exonic ENSG00000242675 NA NA NA Score=713;Name=lod=1058 NA 19q13.32 NA NA NA NA rs12973246 0.5 0.5 0.515 0.533946 0.3917 0.3085 0.4452 0.9168 0.4581 0.4 0.33 0.44 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130453 NA NA NA NA NA 0.609 NA 4.6083 1191 3 194063153 194063153 G A exonic CPN2 NA synonymous SNV CPN2:NM_001080513:exon2:c.C279T:p.F93F exonic ENSG00000178772 NA synonymous SNV ENSG00000178772:ENST00000323830:exon2:c.C279T:p.F93F,ENSG00000178772:ENST00000429275:exon2:c.C279T:p.F93F NA NA 3q29 NA NA NA NA rs3732474 0.28 0.28 0.3 0.259585 0.3519 0.376 0.2219 0.1626 0.2025 0.35 0.31 0.22 0.19 0.3244 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.026485 NA NA 0.382209 0.207444 NA 0.435 NA 4.6081576 1191 16 59788649 59788649 T A ncRNA_exonic LOC644649 NA NA NA ncRNA_exonic ENSG00000260013 NA NA NA NA NA 16q21 NA NA NA NA rs78826389 0.03 0.03 0.028 0.0221645 0.0586 0.002 0.0504 0.0045 0.0092 0.05 NA 0.05 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043623 NA NA NA NA NA 0.08 NA 4.6080666 1191 18 60237388 60237388 A G exonic ZCCHC2 NA synonymous SNV ZCCHC2:NM_017742:exon12:c.A1899G:p.S633S exonic ENSG00000141664 NA synonymous SNV ENSG00000141664:ENST00000586834:exon11:c.A936G:p.S312S,ENSG00000141664:ENST00000269499:exon12:c.A1899G:p.S633S Score=602;Name=lod=373 NA 18q21.33 NA NA NA NA rs8096750 0.82 0.82 0.819 0.870407 0.6402 0.997 0.8012 0.9879 0.8671 0.61 1 0.79 0.98 0.7582 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.071837 NA NA 0.660775 0.925434 NA 0.717 NA 4.6074916 1191 11 3435140 3435140 G A intergenic LOC650368,TRPC2 dist=4762;dist=212550 NA NA ncRNA_exonic ENSG00000166492 NA NA NA Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs4328192 0.26 0.26 0.206 0.298522 0.3926 0.4028 0.3329 0.0424 0.4162 0.33 0.35 0.26 0.05 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204197 NA NA NA NA NA NA NA 4.6074 1191 11 67765056 67765056 T C intronic UNC93B1 NA NA NA intronic ENSG00000110057 NA NA NA NA NA 11q13.2 NA NA Name=3 NA rs308328 0.5 0.5 0.545 0.536342 0.3926 0.4306 0.3285 0.9319 0.4059 0.37 0.41 0.34 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509757 NA NA NA NA NA 0.667 NA 4.6074 1191 19 45395619 45395619 A G intronic TOMM40 NA NA NA intronic ENSG00000130204 NA NA NA NA Name=Age-related macular degeneration,Cognitive decline,Longevity,Cardiovascular disease risk factors,AB1-42,Alzheimer's disease biomarkers,Alzheimer's disease,Cholesterol, total,C-reactive protein,Brain imaging,Alzheimer's disease (late onset) 19q13.32 NA NA NA NA rs2075650 0.13 0.13 0.121 0.119409 0.1312 0.0972 0.1052 0.1309 0.1247 0.13 0.11 0.14 0.17 0.1294 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810523 NA NA 0.132093 0.133227 NA 0.109 NA 4.607307 1191 6 31237342 31237342 G T intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8 NA NA rs72558163 0.16 0.16 0.107 0.13139 0.1282 0.254 0.1282 0.0825 0.0767 0.14 0.27 0.12 0.08 0.1422 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534649 NA NA 0.122326 0.086473 NA 0.13 NA 4.607274 1191 17 79205736 79205736 G A exonic ENTHD2 NA synonymous SNV ENTHD2:NM_144679:exon8:c.C612T:p.S204S exonic ENSG00000167302 NA synonymous SNV ENSG00000167302:ENST00000300714:exon8:c.C612T:p.S204S,ENSG00000167302:ENST00000374769:exon9:c.C360T:p.S120S NA NA 17q25.3 NA NA NA NA rs11655759 0.22 0.22 0.193 0.174121 0.3857 0.0536 0.2493 0.1014 0.1258 0.38 0.06 0.26 0.11 0.2903 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78657 NA 0.06 0.383488 0.150023 NA 0.275 NA 4.6071786 1191 12 69991733 69991733 A G intronic CCT2 NA NA NA intronic ENSG00000166226 NA NA NA NA NA 12q15 NA NA Name=2 NA rs56100203 0.07 0.07 0.069 0.0485224 0.1451 NA 0.0764 0.0045 0.0389 0.15 NA 0.1 0.01 0.1056 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606371 NA NA 0.142558 0.027248 NA 0.065 NA 4.606742 1191 19 46974324 46974324 A G UTR5 PNMAL1 NM_018215:c.-32T>C,NM_001103149:c.-32T>C NA NA UTR5 ENSG00000182013 ENST00000438932:c.-32T>C,ENST00000313683:c.-32T>C,ENST00000602246:c.-32T>C NA NA NA NA 19q13.32 NA Name=CTCF,ZNF263 NA NA rs3826853 0.23 0.23 0.214 0.22484 0.2485 0.1796 0.2032 0.2912 0.1728 0.25 0.15 0.26 0.29 0.2334 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850374 NA NA 0.244767 0.320618 NA 0.29 NA 4.6066664 1191 22 41471066 41471066 T C intergenic RBX1,MIR1281 dist=102047;dist=17451 NA NA ncRNA_exonic ENSG00000213857 NA NA NA Score=867;Name=lod=4456 NA 22q13.2 NA NA NA NA rs4822000 0.38 0.38 0.301 0.390575 0.3936 0.2401 0.6023 0.3336 0.4693 0.4 0.26 0.58 0.33 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.28214 2.28214 NA NA NA NA 0.391 NA 4.6064 1191 1 16892419 16892419 A G intronic NBPF1 NA NA NA intronic ENSG00000219481 NA NA NA NA NA 1p36.13 NA NA Name=76 NA rs200329107 NA NA 0.164 NA NA NA NA NA NA NA NA NA NA 0.3939 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386802 NA NA NA NA NA NA NA 4.6061 1191 7 43982341 43982341 G A ncRNA_exonic POLR2J4 NA NA NA ncRNA_exonic ENSG00000214783 NA NA NA NA NA 7p13 NA NA NA NA rs2074728 NA NA NA 0.0644968 0.0606 0.0942 0.0735 0.0855 0.0031 NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397942 NA NA NA NA NA 0.145 NA 4.6060666 1191 19 1032474 1032474 G T intronic CNN2 NA NA NA intronic ENSG00000064666 NA NA NA NA NA 19p13.3 NA Name=Pol2 NA NA rs62131196 0.08 0.08 0.075 0.0710863 0.1451 0.001 0.1023 0.0083 0.1299 0.15 NA 0.14 0.01 0.1105 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056155 NA NA 0.138372 0.031094 NA 0.087 NA 4.606028 1191 12 45466344 45466344 C T intergenic RACGAP1P,PLEKHA8P1 dist=7150;dist=100473 NA NA ncRNA_exonic ENSG00000257572 NA NA NA Score=535;Name=lod=199 NA 12q12 NA NA NA NA rs2643154 0.25 0.25 0.22 0.212859 0.3946 0.0754 0.4481 0.1233 0.1217 0.39 0.05 0.42 0.14 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.869862 1.869862 NA NA NA NA 0.348 NA 4.6054 1191 3 75475589 75475589 G A ncRNA_intronic FAM86DP NA NA NA ncRNA_intronic ENSG00000244026 NA NA NA NA NA 3p12.3 NA NA NA NA rs137991979 0.03 0.03 0.023 0.0365415 0.0258 0.0506 0.0202 0.0204 0.0665 0.03 0.05 0.04 0.03 0.0355 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677296 NA NA NA NA NA NA NA 4.6053666 1191 16 56670441 56670441 A G ncRNA_intronic MT1JP NA NA NA ncRNA_intronic ENSG00000255986 NA NA NA NA NA 16q12.2 NA NA NA NA rs12051120 0.09 0.09 0.081 0.0880591 0.0229 0.1052 0.0432 0.1989 0.0194 0.03 0.09 0.04 0.2 0.0387 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238118 NA NA NA NA NA 0.101 NA 4.6050666 1191 7 143701884 143701884 C T exonic OR6B1 NA synonymous SNV OR6B1:NM_001005281:exon1:c.C795T:p.A265A exonic ENSG00000221813 NA synonymous SNV ENSG00000221813:ENST00000408922:exon1:c.C795T:p.A265A NA NA 7q35 NA NA NA NA rs728275 0.43 0.43 0.4 0.387181 0.3201 0.5823 0.5461 0.3381 0.2086 0.31 0.59 0.53 0.36 0.3828 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175145 NA NA 0.358743 0.325166 NA 0.493 NA 4.6050236 1192 9 32459450 32459450 T G exonic DDX58 NA synonymous SNV DDX58:NM_014314:exon17:c.A2400C:p.V800V exonic ENSG00000107201 NA synonymous SNV ENSG00000107201:ENST00000379868:exon16:c.A1791C:p.V597V,ENSG00000107201:ENST00000379882:exon16:c.A2265C:p.V755V,ENSG00000107201:ENST00000379883:exon17:c.A2400C:p.V800V,ENSG00000107201:ENST00000542096:exon18:c.A2187C:p.V729V NA NA 9p21.1 NA NA NA NA rs3205166 0.35 0.35 0.329 0.314297 0.3529 0.4524 0.3602 0.202 0.2515 0.35 0.43 0.4 0.2 0.346 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254057 NA NA 0.362791 0.239673 NA 0.304 NA 4.6049756 1192 8 23663653 23663653 C A intergenic NKX2-6,STC1 dist=99542;dist=35781 NA NA ncRNA_exonic ENSG00000271118 NA NA NA Score=631;Name=lod=488 NA 8p21.2 NA NA NA NA rs310295 0.41 0.41 0.359 0.428315 0.3956 0.2996 0.4769 0.4879 0.4796 0.41 0.27 0.46 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161045 NA NA NA NA NA 0.333 NA 4.6044 1192 22 16871440 16871440 A C intergenic OR11H1,CCT8L2 dist=421636;dist=200208 NA NA ncRNA_exonic ENSG00000225293 NA NA NA Score=660;Name=lod=644 NA 22q11.1 NA NA NA NA rs131540 0.32 0.32 0.273 0.334465 0.3956 0.4782 0.3991 0.1293 0.3548 0.33 0.42 0.38 0.16 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108456 NA NA NA NA NA 0.058 NA 4.6044 1192 19 8212263 8212263 G A exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon1:c.C102T:p.D34D exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon1:c.C102T:p.D34D,ENSG00000142449:ENST00000600128:exon2:c.C102T:p.D34D,ENSG00000142449:ENST00000601739:exon2:c.C102T:p.D34D NA NA 19p13.2 NA NA NA NA rs11878432 0.25 0.25 0.238 0.211262 0.3499 0.2163 0.2075 0.1135 0.1984 0.36 0.22 0.27 0.1 0.3743 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100027 NA NA 0.338435 0.165524 NA 0.13 NA 4.6040316 1192 15 25324211 25324211 A G ncRNA_exonic SNORD116-13 NA NA NA ncRNA_exonic ENSG00000207137 NA NA NA NA NA 15q11.2 NA NA NA NA rs17115176 0.03 0.03 0.032 0.0453275 0.0159 0.002 0.0144 0.1241 0.0358 0.02 NA 0.01 0.11 0.0294 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.860321 NA NA 0.017579 0.126712 NA 0.029 NA 4.6037876 1192 3 13670776 13670776 T C exonic FBLN2 NA synonymous SNV FBLN2:NM_001998:exon12:c.T2685C:p.F895F,FBLN2:NM_001004019:exon13:c.T2826C:p.F942F,FBLN2:NM_001165035:exon13:c.T2826C:p.F942F exonic ENSG00000163520 NA synonymous SNV ENSG00000163520:ENST00000295760:exon12:c.T2685C:p.F895F,ENSG00000163520:ENST00000535798:exon12:c.T2763C:p.F921F,ENSG00000163520:ENST00000404922:exon13:c.T2826C:p.F942F,ENSG00000163520:ENST00000492059:exon13:c.T2826C:p.F942F Score=455;Name=lod=94 NA 3p25.1 NA NA NA NA rs4684968 0.8 0.8 0.784 0.800719 0.6759 0.9931 0.8285 0.7602 0.7658 0.67 0.99 0.82 0.77 0.7321 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15325 NA NA 0.654926 0.752172 NA 0.768 NA 4.6037406 1192 19 15918380 15918380 C T exonic OR10H1 NA synonymous SNV OR10H1:NM_013940:exon1:c.G468A:p.G156G exonic ENSG00000186723 NA synonymous SNV ENSG00000186723:ENST00000334920:exon1:c.G468A:p.G156G NA NA 19p13.12 NA NA NA NA rs28426969 0.32 0.32 0.241 0.316494 0.3857 0.0635 0.3386 0.5257 0.2076 0.37 0.08 0.4 0.48 0.3295 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.555428 NA NA 0.347791 0.495688 ID=COSM118207;OCCURENCE=1(ovary) 0.094 NA 4.6036756 1192 5 311478 311478 T C exonic PDCD6 NA synonymous SNV PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I exonic ENSG00000249915 NA synonymous SNV ENSG00000249915:ENST00000507473:exon3:c.T177C:p.I59I,ENSG00000249915:ENST00000264933:exon5:c.T438C:p.I146I,ENSG00000249915:ENST00000507528:exon5:c.T432C:p.I144I NA NA 5p15.33 NA NA Name=59 NA rs2244029 0.58 0.58 0.561 0.605631 0.7028 0.2649 0.5634 0.7776 0.6544 0.71 0.27 0.6 0.73 0.6527 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788785 NA NA 0.707674 0.775306 ID=COSM1486710,COSM449516;OCCURENCE=1(breast) 0.659 NA 4.6034926 1192 4 109710728 109710728 C T intergenic AGXT2L1,COL25A1 dist=26493;dist=21149 NA NA ncRNA_exonic ENSG00000250185 NA NA NA Score=787;Name=lod=2097 NA 4q25 NA NA NA NA rs13137797 0.37 0.37 0.359 0.338858 0.3966 0.372 0.2911 0.3744 0.2311 0.38 0.42 0.34 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889143 NA NA NA NA NA 0.391 NA 4.6034 1192 20 44728661 44728661 A G intergenic NCOA5,CD40 dist=10081;dist=18245 NA NA ncRNA_exonic ENSG00000213820 NA NA NA Score=733;Name=lod=1267 NA 20q13.12 NA NA NA NA rs6131012 0.43 0.43 0.416 0.421925 0.3966 0.5546 0.5043 0.3192 0.3916 0.39 0.58 0.43 0.3 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13071 NA NA NA NA NA 0.413 NA 4.6034 1192 11 67262286 67262286 T A intronic PITPNM1 NA NA NA intronic ENSG00000110697 NA NA NA NA NA 11q13.2 NA Name=Egr-1 NA NA rs12789119 0.25 0.25 NA 0.28155 0.3956 0.1875 0.4942 0.2027 0.2168 0.33 0.15 0.36 0.17 0.0012 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308259 NA NA NA NA NA 0.043 NA 4.6032 1192 14 44975510 44975510 C T exonic FSCB NA synonymous SNV FSCB:NM_032135:exon1:c.G681A:p.P227P exonic ENSG00000189139 NA synonymous SNV ENSG00000189139:ENST00000340446:exon1:c.G681A:p.P227P NA NA 14q21.2 NA NA NA NA rs3809430 0.33 0.33 0.337 0.324481 0.3479 0.3859 0.33 0.2284 0.363 0.33 0.42 0.31 0.23 0.3437 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190053 NA NA 0.372558 0.241716 NA 0.217 NA 4.6025086 1192 17 18872337 18872337 T C intronic SLC5A10 NA NA NA UTR3 ENSG00000188522 ENST00000388995:c.*2335A>G NA NA NA NA 17p11.2 NA Name=Pol2 Name=7 NA rs8415 0.55 0.55 0.528 0.525759 0.5169 0.6052 0.6167 0.5431 0.365 0.5 0.57 0.61 0.56 0.5319 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165358 NA NA 0.515465 0.539265 NA 0.536 NA 4.6024017 1192 2 218625787 218625787 A G intergenic DIRC3,TNS1 dist=4471;dist=38725 NA NA ncRNA_exonic ENSG00000231035 NA NA NA Score=629;Name=lod=481 NA 2q35 NA NA NA NA rs7560625 0.33 0.33 0.307 0.330671 0.3976 0.1518 0.3703 0.3896 0.3384 0.41 0.16 0.39 0.35 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384774 NA NA NA NA NA 0.261 NA 4.6024 1192 11 16863087 16863087 A G intronic PLEKHA7 NA NA NA intronic ENSG00000166689 NA NA NA Score=426;Name=lod=72 NA 11p15.1 NA NA NA NA rs452745 0.18 0.18 0.182 0.194688 0.1352 0.1617 0.2032 0.3079 0.1309 0.12 0.17 0.19 0.26 0.1433 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.09678 2.09678 NA 0.119702 0.265455 NA 0.232 NA 4.601798 1192 17 74583226 74583226 G T intergenic ST6GALNAC2,ST6GALNAC1 dist=1081;dist=37619 NA NA intergenic ENSG00000070731,ENSG00000267084 dist=1016;dist=8440 NA NA NA NA 17q25.1 NA Name=USF-1,KAP1,ZNF263,USF1_(SC-8983) Name=21 NA rs3809700 0.64 0.64 0.63 0.622404 0.7316 0.7202 0.7608 0.3843 0.6329 0.73 0.69 0.72 0.39 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687295 NA NA NA NA NA 0.493 NA 4.6017334 1192 6 29910437 29910437 C T intronic HLA-A NA NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2(phosphoS2),YY1,TAF7_(SQ-8),YY1_(C-20),Pol2-4H8,TAF1,POU2F2,GTF2F1_(RAP-74),HEY1,Oct-2 NA NA rs9260124 0.35 0.35 0.228 NA NA NA NA NA NA 0.38 0.31 0.32 0.35 0.3782 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343384 1.343384 NA 0.353514 0.326331 NA 0.246 NA 4.6016193 1192 6 144803547 144803547 G A intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA Name=YY1_(C-20),SMC3_(ab9263),CTCF NA NA rs4310077 0.22 0.22 0.066 0.256989 0.2634 0.0794 0.2032 0.3548 0.3395 0.25 0.07 0.22 0.34 0.0615 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.07726 NA NA 0.073509 0.108992 NA 0.116 NA 4.601591 1192 6 24976739 24976739 G C intergenic FAM65B,CMAHP dist=65544;dist=104556 NA NA ncRNA_intronic ENSG00000214975 NA NA NA NA NA 6p22.3 NA Name=HEY1,Pol2 NA NA rs13190691 0.27 0.27 0.266 0.247005 0.3986 0.2302 0.2421 0.1483 0.2454 0.38 0.25 0.25 0.15 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836197 NA NA NA NA NA 0.341 NA 4.6014 1192 8 23663504 23663504 A G intergenic NKX2-6,STC1 dist=99393;dist=35930 NA NA ncRNA_exonic ENSG00000271118 NA NA NA Score=631;Name=lod=488 NA 8p21.2 NA NA NA NA rs310294 0.42 0.42 0.385 0.446486 0.3986 0.2996 0.4899 0.5477 0.4796 0.42 0.27 0.47 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.786597 1.786597 NA NA NA NA 0.37 NA 4.6014 1192 12 71532099 71532099 G A intronic TSPAN8 NA NA NA intronic ENSG00000127324 NA NA NA NA NA 12q21.1 NA Name=CTCF NA NA rs2270584 0.28 0.28 0.282 0.25 0.3986 0.2847 0.2291 0.1195 0.2526 0.39 0.31 0.26 0.11 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421225 NA NA NA NA NA 0.261 NA 4.6014 1192 16 69973127 69973127 A G intronic WWP2 NA NA NA intronic ENSG00000198373 NA NA NA NA NA 16q22.1 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs2270843 0.23 0.23 0.19 0.182508 0.3986 0.0883 0.3314 0.0219 0.1687 0.4 0.1 0.35 0.02 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.235861 NA NA NA NA NA 0.181 NA 4.6014 1192 3 136573440 136573440 A G exonic SLC35G2 NA synonymous SNV SLC35G2:NM_001097599:exon2:c.A138G:p.G46G,SLC35G2:NM_001097600:exon2:c.A138G:p.G46G,SLC35G2:NM_025246:exon2:c.A138G:p.G46G exonic ENSG00000168917 NA synonymous SNV ENSG00000168917:ENST00000393079:exon2:c.A138G:p.G46G,ENSG00000168917:ENST00000446465:exon2:c.A138G:p.G46G Score=703;Name=lod=955 NA 3q22.3 NA NA NA NA rs9827648 0.71 0.71 0.679 0.704872 0.6551 0.8502 0.7651 0.5711 0.7444 0.65 0.86 0.75 0.6 0.7135 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153198 NA NA 0.697093 0.610354 NA 0.543 NA 4.6009736 1192 15 59499274 59499274 C A exonic LDHAL6B NA synonymous SNV LDHAL6B:NM_033195:exon1:c.C135A:p.T45T exonic ENSG00000171989 NA synonymous SNV ENSG00000171989:ENST00000307144:exon1:c.C135A:p.T45T NA NA 15q22.2 NA NA NA NA rs3809528 0.46 0.46 0.432 0.500998 0.34 0.6131 0.4409 0.5113 0.5798 0.34 0.63 0.4 0.49 0.4051 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283303 NA NA 0.320979 0.468508 NA 0.42 NA 4.6005876 1192 5 135764794 135764794 T C intergenic TRPC7,SPOCK1 dist=63630;dist=546193 NA NA ncRNA_exonic ENSG00000213568 NA NA NA Score=355;Name=lod=37 NA 5q31.1 NA NA NA NA rs346660 0.55 0.55 0.541 0.55651 0.3996 0.6617 0.6066 0.7209 0.3517 0.4 0.62 0.52 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358636 NA NA NA NA NA 0.587 NA 4.6004 1192 12 55197244 55197244 C T intergenic DCD,MUCL1 dist=155095;dist=51055 NA NA ncRNA_exonic ENSG00000270858 NA NA NA Score=776;Name=lod=1898 NA 12q13.2 NA NA NA NA rs11171086 0.47 0.47 0.398 0.472644 0.3996 0.8413 0.536 0.1203 0.5992 0.4 0.84 0.49 0.12 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084477 NA NA NA NA NA 0.304 NA 4.6004 1192 14 82382741 82382741 G A intergenic SEL1L,NONE dist=382536;dist=NONE NA NA ncRNA_exonic ENSG00000258501 NA NA NA Score=667;Name=lod=683 NA 14q31.1 NA NA NA NA rs4904042 0.44 0.44 0.438 0.445487 0.3996 0.3403 0.4625 0.5855 0.3998 0.4 0.36 0.46 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603533 NA NA NA NA NA 0.37 NA 4.6004 1192 16 31336719 31336719 G A exonic ITGAM NA synonymous SNV ITGAM:NM_000632:exon20:c.G2499A:p.T833T,ITGAM:NM_001145808:exon20:c.G2502A:p.T834T exonic ENSG00000169896 NA synonymous SNV ENSG00000169896:ENST00000287497:exon20:c.G2499A:p.T833T,ENSG00000169896:ENST00000544665:exon20:c.G2502A:p.T834T NA NA 16p11.2 NA NA NA NA rs1143682 0.39 0.39 0.367 0.294529 0.3519 0.6558 0.3329 0.0832 0.1217 0.35 0.72 0.37 0.09 0.3404 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159168 NA NA 0.374084 0.136493 ID=COSM1128977;OCCURENCE=1(prostate),1(large_intestine) 0.348 NA 4.6002826 1192 22 32334203 32334203 C T intronic C22orf24 NA NA NA exonic ENSG00000128254 NA synonymous SNV ENSG00000128254:ENST00000543051:exon1:c.G51A:p.P17P NA NA 22q12.3 NA NA NA NA rs3788442 0.1 0.1 0.083 0.127396 0.0905 0.1954 0.1225 0.0106 0.2566 0.1 0.17 0.1 0.01 0.1426 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078404 NA NA NA NA NA 0.152 NA 4.6002333 1192 19 2116764 2116764 C T intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA Score=251;Name=lod=14 NA 19p13.3 NA NA NA NA rs114460651 0.08 0.08 0.074 0.0832668 0.1153 NA 0.0706 0.0961 0.1278 0.11 NA 0.09 0.11 0.1321 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88629 NA NA 0.152709 0.094179 NA 0.065 NA 4.599891 1192 12 10163379 10163379 C T exonic CLEC12B NA synonymous SNV CLEC12B:NM_001129998:exon1:c.C21T:p.Y7Y,CLEC12B:NM_205852:exon1:c.C21T:p.Y7Y exonic ENSG00000256660 NA synonymous SNV ENSG00000256660:ENST00000338896:exon1:c.C21T:p.Y7Y,ENSG00000256660:ENST00000396502:exon1:c.C21T:p.Y7Y,ENSG00000256660:ENST00000539155:exon1:c.C21T:p.Y7Y,ENSG00000256660:ENST00000544853:exon1:c.C21T:p.Y7Y NA NA 12p13.2 NA NA NA NA rs1359083 0.31 0.31 0.303 0.265974 0.3966 0.1468 0.3487 0.261 0.2025 0.4 0.14 0.37 0.31 0.3216 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056131 NA NA 0.348721 0.29301 NA 0.341 NA 4.5997456 1192 1 202194441 202194441 G C intronic LGR6 NA NA NA intronic ENSG00000133067 NA NA NA NA NA 1q32.1 NA NA Name=2 NA rs3010067 0.45 0.45 0.404 0.467652 0.4006 0.6885 0.4582 0.2201 0.6503 0.41 0.72 0.41 0.21 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.102736 NA NA NA NA NA 0.442 NA 4.5994 1192 2 236055911 236055911 T C intergenic SH3BP4,AGAP1 dist=91553;dist=346822 NA NA ncRNA_exonic ENSG00000231032 NA NA NA Score=493;Name=lod=135 NA 2q37.2 NA NA NA NA rs7605399 0.5 0.5 0.503 0.521565 0.4006 0.4524 0.3602 0.7859 0.4744 0.4 0.45 0.39 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124673 NA NA NA NA NA 0.543 NA 4.5994 1192 14 90769539 90769539 C T intronic NRDE2 NA NA NA intronic ENSG00000119720 NA NA NA NA NA 14q32.11 NA NA Name=2 NA rs2149647 0.35 0.35 0.329 0.323482 0.4006 0.5079 0.3026 0.0802 0.3978 0.41 0.5 0.33 0.09 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.041329 NA NA NA NA NA 0.304 NA 4.5994 1192 17 52032211 52032211 T C intergenic KIF2B,TOM1L1 dist=129638;dist=945841 NA NA ncRNA_exonic ENSG00000263189 NA NA NA Score=466;Name=lod=104 NA 17q22 NA NA NA NA rs11650207 0.26 0.26 0.234 0.230032 0.4006 0.245 0.2666 0.0174 0.3006 0.42 0.22 0.29 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120554 NA NA NA NA NA 0.203 NA 4.5994 1192 18 72057126 72057126 T C intergenic C18orf63,FAM69C dist=30704;dist=45837 NA NA ncRNA_exonic ENSG00000235297 NA NA NA Score=668;Name=lod=692 NA 18q22.3 NA NA NA NA rs12959382 0.31 0.31 0.301 0.316494 0.4006 0.2708 0.2723 0.2474 0.4018 0.41 0.22 0.29 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.482851 1.482851 0 NA NA NA 0.254 NA 4.5994 1192 6 31504194 31504194 A G ncRNA_exonic SNORD117 NA NA NA ncRNA_exonic ENSG00000201785 NA NA NA NA NA 6p21.33 NA NA NA NA rs114751021 0.01 0.01 0.008 0.00778754 0.0229 NA 0.013 NA 0.0072 0.02 NA 0.01 NA 0.0154 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.546669 1.546669 NA 0.029131 0.005137 NA 0.007 NA 4.5992356 1192 2 182360182 182360182 T C intronic ITGA4 NA NA NA intronic ENSG00000115232 NA NA NA NA NA 2q31.3 Score=792;Name=V$CART1_01 NA NA NA rs2305586 0.13 0.13 0.119 0.140575 0.1252 0.2361 0.1657 0.0083 0.2188 0.13 0.22 0.12 0.02 0.1512 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32995 NA NA 0.125 0.027317 NA 0.217 NA 4.5986 1192 19 1399056 1399056 C T intronic GAMT NA NA NA intronic ENSG00000130005 NA NA NA NA NA 19p13.3 NA NA NA NA rs55776826 0.1 0.1 0.113 0.113219 0.1282 0.0109 0.0922 0.1672 0.1452 0.14 0.01 0.07 0.15 0.1294 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167662 NA NA 0.143837 0.170676 NA 0.109 CLINSIG=non-pathogenic;CLNDBN=Deficiency_of_guanidinoacetate_methyltransferase;CLNREVSTAT=single;CLNACC=RCV000020143.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK3794:C0574080:612736:ORPHA382:124239003 4.598563 1192 6 157963550 157963550 T C intronic ZDHHC14 NA NA NA intronic ENSG00000175048 NA NA NA Score=272;Name=lod=17 NA 6q25.3 NA NA NA NA rs17165416 0.4 0.4 0.397 0.414137 0.4016 0.3968 0.487 0.4002 0.4121 0.42 0.38 0.44 0.37 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391803 NA NA NA NA NA 0.493 NA 4.5984 1192 19 17881171 17881171 G A intronic FCHO1 NA NA NA intronic ENSG00000130475 NA NA NA NA NA 19p13.11 NA Name=PU.1 NA NA rs12327667 0.56 0.56 0.557 0.551318 0.4016 0.7292 0.5259 0.5567 0.5327 0.41 0.76 0.52 0.59 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38882 NA NA NA NA NA 0.558 NA 4.5984 1192 19 50322637 50322637 C T intronic MED25 NA NA NA intronic ENSG00000104973 NA NA NA NA NA 19q13.33 NA Name=ZBTB7A_(SC-34508) NA NA rs116536938 NA NA 0.098 0.44389 0.4016 0.4692 0.4438 0.469 0.4274 NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550278 NA NA NA NA NA 0.087 NA 4.5984 1192 19 50322643 50322643 A G intronic MED25 NA NA NA intronic ENSG00000104973 NA NA NA NA NA 19q13.33 NA Name=ZBTB7A_(SC-34508) NA NA rs71205607 NA NA 0.056 0.44389 0.4016 0.4692 0.4438 0.469 0.4274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360136 NA NA NA NA NA NA NA 4.5984 1192 19 10464687 10464687 A G intronic TYK2 NA NA NA UTR5 ENSG00000105397 ENST00000529739:c.-388T>C NA NA NA NA 19p13.2 NA Name=NF-YB,Pol2,SP1,IRF1,Egr-1 Name=47 NA rs280497 0.57 0.57 0.52 0.578275 0.5179 0.6419 0.428 0.6596 0.5716 0.51 0.6 0.48 0.7 0.5333 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24099 NA NA 0.517209 0.621308 NA 0.42 NA 4.5982577 1192 16 31283164 31283164 G A intronic ITGAM NA NA NA intronic ENSG00000169896 NA NA NA Score=439;Name=lod=81 NA 16p11.2 NA NA NA NA rs35314490 0.12 0.12 0.116 0.159145 0.1402 0.0149 0.1095 0.2526 0.2362 0.14 0.0017 0.11 0.24 0.1364 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126557 NA NA 0.125273 0.211408 NA 0.123 NA 4.598127 1192 22 50502636 50502636 G A intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs11568185 0.11 0.11 0.092 0.131589 0.1322 0.0923 0.1758 0.059 0.2382 0.12 0.1 0.16 0.09 0.1386 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403037 NA NA 0.131174 0.070487 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117627.2;CLNDSDB=.;CLNDSDBID=. 4.598026 1192 17 4622638 4622638 C T exonic ARRB2 NA synonymous SNV ARRB2:NM_001257331:exon10:c.C795T:p.S265S,ARRB2:NM_199004:exon10:c.C795T:p.S265S,ARRB2:NM_001257328:exon11:c.C903T:p.S301S,ARRB2:NM_001257330:exon11:c.C840T:p.S280S,ARRB2:NM_004313:exon11:c.C840T:p.S280S exonic ENSG00000141480 NA synonymous SNV ENSG00000141480:ENST00000571206:exon9:c.C264T:p.S88S,ENSG00000141480:ENST00000571428:exon9:c.C264T:p.S88S,ENSG00000141480:ENST00000572457:exon9:c.C264T:p.S88S,ENSG00000141480:ENST00000346341:exon10:c.C795T:p.S265S,ENSG00000141480:ENST00000381488:exon10:c.C795T:p.S265S,ENSG00000141480:ENST00000574954:exon10:c.C264T:p.S88S,ENSG00000141480:ENST00000269260:exon11:c.C840T:p.S280S,ENSG00000141480:ENST00000412477:exon11:c.C903T:p.S301S Score=475;Name=lod=114 NA 17p13.2 NA NA NA NA rs1045280 0.67 0.67 0.67 0.669529 0.6879 0.8254 0.7205 0.4047 0.8119 0.71 0.84 0.72 0.38 0.7048 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912118 NA NA 0.676163 0.449841 NA 0.594 NA 4.5978036 1192 12 95494769 95494769 C T intronic FGD6 NA NA NA ncRNA_exonic ENSG00000257121 NA NA NA Score=567;Name=lod=269 NA 12q22 NA NA NA NA rs7135574 0.71 0.71 0.682 0.727636 0.7356 0.6657 0.7046 0.7625 0.7526 0.74 0.66 0.66 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.999095 NA NA NA NA NA 0.725 NA 4.5977333 1192 21 46097922 46097922 A G intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000229880 NA NA NA Score=317;Name=lod=26 NA 21q22.3 NA NA NA NA rs2838629 0.69 0.69 0.679 0.70647 0.7356 0.5883 0.6931 0.7738 0.7168 0.73 0.56 0.73 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.575418 NA NA NA NA NA 0.674 NA 4.5977333 1192 5 112851088 112851088 T A intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA Name=6 NA rs11241213 0.11 0.11 0.04 0.0942492 0.174 0.0804 0.0893 0.0287 0.1186 0.18 0.07 0.11 0.03 0.1364 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847016 NA NA 0.092136 0.024761 NA 0.029 NA 4.597464 1192 4 76542274 76542274 G C intronic CDKL2 NA NA NA intronic ENSG00000138769 NA NA NA Score=448;Name=lod=88 NA 4q21.1 NA NA NA NA rs6531780 0.33 0.33 0.344 0.3127 0.4026 0.0694 0.2867 0.5893 0.1155 0.39 0.07 0.31 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.759553 NA NA NA NA NA 0.428 NA 4.5974 1192 6 109107340 109107340 T C intergenic LINC00222,ARMC2 dist=16195;dist=62279 NA NA ncRNA_exonic ENSG00000219565 NA NA NA Score=522;Name=lod=177 NA 6q21 NA NA NA NA rs3751127 0.33 0.33 0.294 0.339257 0.4026 0.2837 0.3948 0.2504 0.4121 0.41 0.28 0.43 0.21 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.66848 1.66848 NA NA NA NA 0.42 NA 4.5974 1192 10 19229606 19229606 C T intergenic ARL5B,PLXDC2 dist=262666;dist=875766 NA NA ncRNA_exonic ENSG00000234813 NA NA NA Score=617;Name=lod=431 NA 10p12.31 NA NA NA NA rs7907800 0.42 0.42 0.459 0.464457 0.4026 0.3462 0.4049 0.5908 0.5215 0.4 0.35 0.38 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627872 NA NA NA NA NA 0.319 NA 4.5974 1192 10 19229638 19229638 G A intergenic ARL5B,PLXDC2 dist=262698;dist=875734 NA NA ncRNA_exonic ENSG00000234813 NA NA NA Score=617;Name=lod=431 NA 10p12.31 NA NA NA NA rs7906865 0.42 0.42 0.45 0.464657 0.4026 0.3462 0.4049 0.5908 0.5225 0.4 0.35 0.38 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172601 NA NA NA NA NA 0.355 NA 4.5974 1192 10 19229645 19229645 C G intergenic ARL5B,PLXDC2 dist=262705;dist=875727 NA NA ncRNA_exonic ENSG00000234813 NA NA NA Score=617;Name=lod=431 NA 10p12.31 NA NA NA NA rs7907812 0.42 0.42 0.44 0.464657 0.4026 0.3462 0.4049 0.5908 0.5225 0.4 0.35 0.38 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27357 NA NA NA NA NA 0.37 NA 4.5974 1192 2 101584895 101584895 C T intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 NA Name=Pol2 NA NA rs2289950 0.27 0.27 0.241 0.300719 0.1143 0.4583 0.3487 0.292 0.3078 0.13 0.43 0.28 0.29 0.2005 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742257 NA NA 0.087907 0.261916 ID=COSM148915;OCCURENCE=1(stomach) 0.239 NA 4.597293 1192 3 186570746 186570746 T G ncRNA_exonic ADIPOQ-AS1 NA NA NA ncRNA_exonic ENSG00000226482 NA NA NA NA NA 3q27.3 NA NA NA NA rs17846866 0.03 0.03 0.029 0.0443291 0.0696 0.0238 0.0173 0.0045 0.1125 0.07 0.02 0.01 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258536 NA NA NA NA NA 0.029 NA 4.5970666 1192 17 74152366 74152366 A G exonic RNF157 NA synonymous SNV RNF157:NM_052916:exon14:c.T1450C:p.L484L exonic ENSG00000141576 NA synonymous SNV ENSG00000141576:ENST00000269391:exon14:c.T1450C:p.L484L,ENSG00000141576:ENST00000319945:exon14:c.T1450C:p.L484L NA NA 17q25.1 NA NA NA NA rs881502 0.31 0.31 0.29 0.311102 0.3767 0.2163 0.3977 0.2572 0.3528 0.37 0.23 0.39 0.27 0.3328 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976348 NA NA 0.360233 0.267817 ID=COSM148345;OCCURENCE=1(stomach) 0.333 NA 4.5969336 1192 1 199356619 199356619 A C intergenic LOC100131234,NR5A2 dist=450061;dist=640111 NA NA ncRNA_exonic ENSG00000236468 NA NA NA Score=854;Name=lod=3942 NA 1q32.1 NA NA NA NA rs659503 0.38 0.38 0.336 0.399561 0.4036 0.2996 0.5432 0.3949 0.4029 0.38 0.29 0.52 0.36 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23053 NA NA NA NA NA 0.493 NA 4.5964 1192 1 199357350 199357350 T C intergenic LOC100131234,NR5A2 dist=450792;dist=639380 NA NA ncRNA_exonic ENSG00000236468 NA NA NA Score=854;Name=lod=3942 NA 1q32.1 NA NA NA NA rs501451 0.38 0.38 0.358 0.399561 0.4036 0.2996 0.5432 0.3949 0.4029 0.38 0.29 0.52 0.36 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02664 NA NA NA NA NA 0.5 NA 4.5964 1192 10 19229675 19229675 C G intergenic ARL5B,PLXDC2 dist=262735;dist=875697 NA NA ncRNA_exonic ENSG00000234813 NA NA NA Score=617;Name=lod=431 NA 10p12.31 NA NA NA NA rs7910929 0.42 0.42 0.441 0.464657 0.4036 0.3462 0.4049 0.5908 0.5215 0.4 0.35 0.38 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291465 NA NA NA NA NA 0.37 NA 4.5964 1192 1 10555257 10555257 C T intronic PEX14 NA NA NA intronic ENSG00000142655 NA NA NA NA NA 1p36.22 NA Name=Znf143_(16618-1-AP),Rad21,ELF1_(SC-631),CTCF_(C-20),SMC3_(ab9263),PU.1,CTCF_(SC-5916),CTCF Name=128 NA rs622623 0.68 0.68 0.695 0.646965 0.7087 0.8095 0.5288 0.472 0.7362 0.72 0.83 0.58 0.52 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143801 NA NA 0.695475 0.5 NA 0.572 NA 4.595825 1192 12 95494482 95494482 C T intronic FGD6 NA NA NA ncRNA_exonic ENSG00000257121 NA NA NA Score=514;Name=lod=164 NA 12q22 NA NA NA NA rs7135194 0.71 0.71 0.701 0.727037 0.7376 0.6647 0.7046 0.7595 0.7526 0.74 0.66 0.66 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664355 NA NA NA NA NA 0.717 NA 4.5957333 1192 12 121454313 121454313 C A upstream C12orf43 NA NA NA upstream ENSG00000157895 NA NA NA NA NA 12q24.31 NA Name=TCF4,Pol2,Mxi1_(bHLH),GATA3_(SC-268),USF1_(SC-8983),eGFP-JunD,YY1_(C-20),TAF7_(SQ-8),Znf143_(16618-1-AP),TAF1,GATA-1,ETS1,USF2,HMGN3,E2F4,POU2F2,GTF2F1_(RAP-74),CHD2_(N-1250),ELF1_(SC-631),Max,Oct-2,YY1,RFX5_(N-494),ZNF263,ERalpha_a,Pol2-4H8,GATA-2,HA-E2F1,JunD,eGFP-JunB,Pol2(b),USF-1,IRF1,TBP,NFKB,ZEB1_(SC-25388),HEY1,c-Myc,SIX5,PAX5-C20 Name=148 NA rs2258287 0.45 0.45 NA 0.452476 0.333 0.749 0.3689 0.3154 0.5143 0.33 0.76 0.38 0.33 0.3952 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040047 NA NA 0.342761 0.306958 NA 0.341 NA 4.5957056 1192 1 21934693 21934693 T C intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=Pol2-4H8,YY1,HMGN3,TAF1,TBP,GTF2F1_(RAP-74),HEY1 NA NA rs72660316 0.09 0.09 0.078 0.107628 0.1441 0.0327 0.0836 0.09 0.1881 0.14 0.02 0.1 0.09 0.1272 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152852 NA NA 0.13314 0.099864 NA 0.196 NA 4.59556 1192 1 199357243 199357243 A G intergenic LOC100131234,NR5A2 dist=450685;dist=639487 NA NA ncRNA_exonic ENSG00000236468 NA NA NA Score=854;Name=lod=3942 NA 1q32.1 NA NA NA NA rs502360 0.39 0.39 0.357 0.414936 0.4046 0.2986 0.562 0.4433 0.4029 0.38 0.29 0.53 0.41 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432566 NA NA NA NA NA 0.529 NA 4.5954 1192 2 57275499 57275499 G A intergenic CCDC85A,VRK2 dist=662190;dist=998278 NA NA ncRNA_exonic ENSG00000271115 NA NA NA Score=684;Name=lod=803 NA 2p16.1 NA NA NA NA rs7606524 0.36 0.36 0.339 0.355032 0.4046 0.254 0.4424 0.3162 0.3988 0.41 0.25 0.43 0.34 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010548 NA NA NA NA NA 0.312 NA 4.5954 1192 3 80265933 80265933 A G intergenic ROBO1,GBE1 dist=448874;dist=1272917 NA NA ncRNA_exonic ENSG00000239699 NA NA NA Score=653;Name=lod=601 NA 3p12.2 NA NA NA NA rs9861664 0.2 0.2 0.185 0.175519 0.4046 0.0536 0.1758 0.0461 0.2403 0.4 0.04 0.21 0.07 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717269 NA NA NA NA NA 0.152 NA 4.5954 1192 8 98877559 98877559 T A intergenic LAPTM4B,MATN2 dist=12729;dist=3752 NA NA ncRNA_exonic ENSG00000243504 NA NA NA Score=750;Name=lod=1484 NA 8q22.1 NA NA NA NA rs12543227 0.29 0.29 0.256 0.260783 0.4046 0.3145 0.2435 0.0719 0.3252 0.41 0.31 0.29 0.09 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089307 NA NA NA NA NA 0.203 NA 4.5954 1192 8 98877565 98877565 T A intergenic LAPTM4B,MATN2 dist=12735;dist=3746 NA NA ncRNA_exonic ENSG00000243504 NA NA NA Score=750;Name=lod=1484 NA 8q22.1 NA NA NA NA rs12543228 0.29 0.29 0.257 0.260783 0.4046 0.3145 0.2435 0.0719 0.3252 0.41 0.31 0.29 0.09 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456253 NA NA NA NA NA 0.203 NA 4.5954 1192 10 30316872 30316872 T C exonic KIAA1462 NA synonymous SNV KIAA1462:NM_020848:exon3:c.A2205G:p.A735A exonic ENSG00000165757 NA synonymous SNV ENSG00000165757:ENST00000375377:exon3:c.A2205G:p.A735A NA NA 10p11.23 NA NA NA NA rs3739996 0.26 0.26 0.261 0.211262 0.3897 0.2242 0.2406 0.1127 0.1268 0.37 0.22 0.3 0.11 0.3057 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754064 NA NA 0.376088 0.130762 NA 0.21 NA 4.5951786 1192 1 201328824 201328824 G A intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA NA NA 1q32.1 NA NA Name=2 NA rs2275863 0.24 0.24 0.259 0.277157 0.0944 0.2847 0.1023 0.5439 0.2209 0.1 0.26 0.1 0.55 0.2084 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265126 NA NA 0.102024 0.463913 NA 0.348 NA 4.595176 1192 19 41945848 41945848 G T upstream ATP5SL NA NA NA intronic ENSG00000105341 NA NA NA NA NA 19q13.2 NA Name=YY1_(C-20),Pol2,SP1,Mxi1_(bHLH),GABP,Znf143_(16618-1-AP),TAF1,E2F6_(H-50),GTF2F1_(RAP-74),CEBPB,CTCF,Rad21,ELF1_(SC-631),ZNF263,KAP1,Pol2-4H8,HA-E2F1,YY1,Egr-1,RFX5_(N-494),Pol2(b),IRF1,TBP,USF-1,PAX5-C20,NFKB,HEY1,c-Myc Name=148 NA rs13344547 0.48 0.48 0.476 0.484824 0.4085 0.5665 0.549 0.5136 0.3947 0.42 0.54 0.48 0.51 0.4316 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884198 NA NA 0.39814 0.495688 NA 0.435 NA 4.5950933 1193 18 21413869 21413869 T C exonic LAMA3 NA synonymous SNV LAMA3:NM_001127717:exon24:c.T2901C:p.A967A,LAMA3:NM_198129:exon24:c.T2901C:p.A967A exonic ENSG00000053747 NA synonymous SNV ENSG00000053747:ENST00000313654:exon24:c.T2901C:p.A967A,ENSG00000053747:ENST00000399516:exon24:c.T2901C:p.A967A NA NA 18q11.2 NA NA Name=10 NA rs9962023 0.66 0.66 0.665 0.624401 0.7078 0.7431 0.5476 0.5151 0.6186 0.7 0.76 0.59 0.54 0.6631 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487621 NA NA 0.700825 0.546786 NA 0.645 NA 4.5949416 1193 1 19683301 19683301 G T intronic CAPZB NA NA NA intronic ENSG00000077549 NA NA NA NA NA 1p36.13 NA Name=ERalpha_a NA NA rs169957 0.5 0.5 0.477 0.477835 0.4056 0.5556 0.5274 0.5061 0.3988 0.41 0.6 0.51 0.5 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044087 NA NA NA NA NA 0.297 NA 4.5944 1193 2 103281417 103281417 A C intronic SLC9A2 NA NA NA intronic ENSG00000115616 NA NA NA NA NA 2q12.1 Score=879;Name=V$HFH1_01 NA NA NA rs11123944 0.35 0.35 0.344 0.322883 0.4056 0.4772 0.3573 0.0817 0.3804 0.38 0.49 0.36 0.12 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407323 NA NA NA NA NA 0.464 NA 4.5944 1193 4 111337478 111337478 G A intergenic ELOVL6,ENPEP dist=217658;dist=59751 NA NA ncRNA_exonic ENSG00000251046 NA NA NA Score=349;Name=lod=35 NA 4q25 NA NA NA NA rs6815273 0.33 0.33 0.257 0.279353 0.4056 0.4028 0.3847 0.0189 0.2996 0.41 0.43 0.4 0.03 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224234 NA NA NA NA NA 0.254 NA 4.5944 1193 22 29449477 29449477 A G intronic ZNRF3 NA NA NA intronic ENSG00000183579 NA NA NA NA NA 22q12.1 NA Name=Pol2-4H8,FOSL2 NA NA rs2294239 0.38 0.38 0.354 0.376797 0.4056 0.4395 0.4539 0.1785 0.4959 0.41 0.46 0.43 0.2 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346337 NA NA NA NA NA 0.391 NA 4.5944 1193 1 15834360 15834360 A G intronic CASP9 NA NA NA intronic ENSG00000132906 NA NA NA NA NA 1p36.21 Score=887;Name=V$BACH2_01 NA NA NA rs2020902 0.1 0.1 0.099 0.0928514 0.1421 0.0317 0.1138 0.0877 0.0971 0.14 0.03 0.14 0.08 0.1225 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272542 NA NA 0.141047 0.091466 NA 0.065 NA 4.594353 1193 3 21447724 21447724 C T ncRNA_exonic VENTXP7 NA NA NA ncRNA_exonic ENSG00000236380 NA NA NA NA NA 3p24.3 NA NA NA NA rs11718548 0.29 0.29 0.235 0.318291 0.0726 0.4603 0.4006 0.3381 0.3395 0.07 0.45 0.35 0.37 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46678 NA NA NA NA NA 0.268 NA 4.5940666 1193 12 10370763 10370763 A G intronic GABARAPL1 NA NA NA intronic ENSG00000139112 NA NA NA NA NA 12p13.2 NA NA Name=6 NA rs73058099 0.07 0.07 0.063 0.0515176 0.1402 0.002 0.0519 0.0219 0.0511 0.15 NA 0.06 0.03 0.1136 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.58353 1.58353 NA 0.152791 0.042442 NA 0.101 NA 4.593409 1193 8 145008706 145008706 C T intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA Name=3 NA rs11782433 0.24 0.24 0.207 0.23123 0.4066 0.1409 0.2867 0.0605 0.3354 0.4 0.16 0.29 0.06 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405095 NA NA NA NA NA 0.275 NA 4.5934 1193 2 96789787 96789787 T C exonic ASTL NA synonymous SNV ASTL:NM_001002036:exon9:c.A1098G:p.L366L exonic ENSG00000188886 NA synonymous SNV ENSG00000188886:ENST00000342380:exon9:c.A1098G:p.L366L NA NA 2q11.1 NA NA NA NA rs893173 0.36 0.36 0.321 0.329473 0.3549 0.4256 0.3775 0.2829 0.2331 0.37 0.44 0.34 0.25 0.3559 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255488 NA NA 0.362558 0.298457 ID=COSM443381;OCCURENCE=1(breast) 0.42 NA 4.5933086 1193 15 79031473 79031473 G C intergenic CHRNB4,LOC646938 dist=97886;dist=12906 NA NA intergenic ENSG00000261303,ENSG00000238166 dist=3636;dist=12976 NA NA Score=559;Name=lod=249 NA 15q25.1 Score=785;Name=V$MEF2_01 NA NA NA rs12907432 0.4 0.4 0.37 0.358027 0.7406 0.124 0.3977 0.1074 0.5164 0.74 0.12 0.47 0.14 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155416 NA NA NA NA NA 0.529 NA 4.5927334 1193 7 6974934 6974934 A G intergenic CCZ1B,LOC100131257 dist=109008;dist=140467 NA NA ncRNA_exonic ENSG00000242731 NA NA NA NA NA 7p22.1 NA Name=ERalpha_a NA NA rs4260806 0.48 0.48 0.489 0.557907 0.4076 0.8591 0.4063 0.4735 0.6237 0.36 0.72 0.35 0.47 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086457 NA NA NA NA NA 0.283 NA 4.5924 1193 11 124078704 124078704 G A intergenic VWA5A,OR8G2 dist=61086;dist=16694 NA NA ncRNA_exonic ENSG00000239426 NA NA NA Score=251;Name=lod=14 NA 11q24.2 NA NA NA NA rs11219499 0.27 0.27 NA 0.278355 0.4076 0.4157 0.3415 0.1293 0.1605 0.3 0.36 0.31 0.1 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.161622 NA 0.05 NA NA NA NA NA 4.5924 1193 11 124078705 124078705 T A intergenic VWA5A,OR8G2 dist=61087;dist=16693 NA NA ncRNA_exonic ENSG00000239426 NA NA NA Score=251;Name=lod=14 NA 11q24.2 NA NA NA NA rs11219500 0.27 0.27 NA 0.278355 0.4076 0.4157 0.3415 0.1293 0.1605 0.3 0.36 0.31 0.1 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29744 1.29744 0.01 NA NA NA NA NA 4.5924 1193 13 46010676 46010676 C T intergenic SLC25A30,COG3 dist=18160;dist=28354 NA NA ncRNA_exonic ENSG00000229303 NA NA NA Score=669;Name=lod=700 NA 13q14.13 NA NA NA NA rs9526075 0.27 0.27 0.227 0.236821 0.4076 0.1339 0.3242 0.1755 0.1881 0.41 0.15 0.35 0.14 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573512 NA NA NA NA NA 0.268 NA 4.5924 1193 3 45132577 45132577 A T intronic CDCP1 NA NA NA intronic ENSG00000163814 NA NA NA NA NA 3p21.31 NA Name=Pol2-4H8,KAP1 NA NA rs6791801 0.33 0.33 0.342 0.337061 0.4076 0.247 0.3242 0.3064 0.408 0.42 0.22 0.31 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.849116 1.849116 NA NA NA NA 0.326 NA 4.5924 1193 22 39639853 39639853 G T intronic PDGFB NA NA NA intronic ENSG00000100311 NA NA NA NA NA 22q13.1 NA Name=TAF1,HNF4A,SP1,HNF4G_(SC-6558),HNF4A_(H-171) Name=11 NA rs1800817 0.73 0.73 0.698 0.753994 0.6948 0.9048 0.8012 0.6672 0.7434 0.68 0.84 0.76 0.64 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.363472 1.363472 NA 0.713388 0.681358 NA 0.696 NA 4.591812 1193 19 6495736 6495736 A G exonic TUBB4A NA synonymous SNV TUBB4A:NM_006087:exon4:c.T774C:p.V258V exonic ENSG00000104833 NA synonymous SNV ENSG00000104833:ENST00000594276:exon3:c.T462C:p.V154V,ENSG00000104833:ENST00000264071:exon4:c.T774C:p.V258V,ENSG00000104833:ENST00000540257:exon4:c.T774C:p.V258V Score=673;Name=lod=723 NA 19p13.3 NA NA NA NA rs2071347 0.62 0.62 0.586 0.629393 0.7038 0.4643 0.732 0.6929 0.5644 0.69 0.48 0.7 0.64 0.668 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325906 NA NA 0.70307 0.680209 NA 0.746 NA 4.5917966 1193 17 44352639 44352639 G A intergenic KANSL1,LRRC37A dist=49899;dist=19858 NA NA UTR3 ENSG00000228696 ENST00000570618:c.*167C>T NA NA Score=595;Name=lod=349 NA 17q21.31 NA NA NA NA rs36039990 0.12 0.12 0.138 0.0870607 0.2416 0.001 0.1556 0.0166 0.0634 0.24 0.0017 0.19 0.02 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822017 NA NA NA NA NA 0.116 NA 4.5917334 1193 1 11129434 11129434 T C intronic EXOSC10 NA NA NA ncRNA_intronic ENSG00000226849 NA NA NA NA NA 1p36.22 NA Name=Max NA NA rs2748878 0.65 0.65 0.581 0.60603 0.7416 0.7837 0.755 0.2035 0.7219 0.74 0.81 0.75 0.23 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1536 NA NA NA NA NA 0.609 NA 4.5917333 1193 1 11129437 11129437 T C intronic EXOSC10 NA NA NA ncRNA_intronic ENSG00000226849 NA NA NA NA NA 1p36.22 NA Name=Max NA NA rs2748877 0.65 0.65 0.586 0.60603 0.7416 0.7837 0.755 0.2035 0.7219 0.74 0.81 0.75 0.23 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.767351 NA NA NA NA NA 0.609 NA 4.5917333 1193 8 14167113 14167113 C T intronic SGCZ NA NA NA ncRNA_exonic ENSG00000214366 NA NA NA Score=764;Name=lod=1696 NA 8p22 NA NA NA NA rs12156020 0.53 0.53 0.517 0.541534 0.7416 0.4901 0.5317 0.3563 0.6462 0.71 0.44 0.58 0.32 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426786 NA NA NA NA NA 0.529 NA 4.5917333 1193 13 46010469 46010469 A C intergenic SLC25A30,COG3 dist=17953;dist=28561 NA NA ncRNA_exonic ENSG00000229303 NA NA NA Score=669;Name=lod=700 NA 13q14.13 NA NA NA NA rs9534145 0.29 0.29 0.258 0.247204 0.4085 0.1399 0.3271 0.1944 0.2065 0.41 0.15 0.35 0.21 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105719 NA NA NA NA NA 0.312 NA 4.5915 1193 17 9783566 9783566 G C intronic GLP2R NA NA NA intronic ENSG00000065325 NA NA NA NA NA 17p13.1 NA NA Name=3 NA rs4791903 0.46 0.46 0.469 0.477835 0.4085 0.2917 0.4654 0.7511 0.3804 0.41 0.27 0.46 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152501 NA NA NA NA NA 0.601 NA 4.5915 1193 22 37611807 37611807 T C intergenic SSTR3,RAC2 dist=3454;dist=9503 NA NA ncRNA_exonic ENSG00000226233 NA NA NA Score=491;Name=lod=132 NA 22q13.1 NA NA NA NA rs5756562 0.28 0.28 0.272 0.266773 0.4085 0.0942 0.2478 0.3343 0.2209 0.39 0.1 0.29 0.33 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648432 NA NA NA NA NA 0.29 NA 4.5915 1193 19 8155173 8155173 G A intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA Name=NF-YB,USF2,NF-YA,USF-1 NA NA rs12459760 0.19 0.19 0.163 0.175919 0.1163 0.2421 0.2738 0.177 0.0982 0.12 0.26 0.24 0.18 0.1569 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275846 NA NA 0.135698 0.171584 NA 0.138 NA 4.591102 1193 17 44352621 44352621 A G intergenic KANSL1,LRRC37A dist=49881;dist=19876 NA NA UTR3 ENSG00000228696 ENST00000570618:c.*185T>C NA NA Score=595;Name=lod=349 NA 17q21.31 NA NA NA NA rs2696537 0.12 0.12 0.131 0.0872604 0.2425 0.001 0.1556 0.0166 0.0634 0.24 0.0017 0.19 0.02 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502724 NA NA NA NA NA 0.109 NA 4.5908334 1193 5 149636109 149636109 G A intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA Name=ZBTB7A_(SC-34508),Rad21,CTCF,CTCF_(SC-5916) Name=8 NA rs10463294 0.54 0.54 0.591 0.541134 0.4493 0.5635 0.4366 0.6301 0.5665 0.46 0.58 0.47 0.66 0.5017 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415049 NA NA 0.458413 0.627431 NA 0.638 NA 4.590587 1193 14 24776769 24776769 G T intronic CIDEB NA NA NA UTR3 ENSG00000196943 ENST00000267425:c.*2468G>T NA NA NA NA 14q12 NA Name=ZNF263 NA NA rs11158635 0.15 0.15 0.135 0.15016 0.1849 0.004 0.3473 0.1573 0.1155 0.2 0.01 0.3 0.14 0.1847 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804169 NA NA 0.206512 0.164321 NA 0.13 NA 4.5905547 1193 1 236275077 236275077 C T intergenic NID1,GPR137B dist=46596;dist=30755 NA NA ncRNA_exonic ENSG00000235371 NA NA NA Score=627;Name=lod=471 NA 1q42.3 NA NA NA NA rs7542837 0.51 0.51 0.511 0.522764 0.4095 0.4663 0.5375 0.7617 0.364 0.41 0.46 0.49 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49193 NA NA NA NA NA 0.464 NA 4.5905 1193 1 11906981 11906981 T C ncRNA_intronic NPPA-AS1 NA NA NA ncRNA_intronic ENSG00000242349 NA NA NA NA NA 1p36.22 NA NA NA NA rs198370 0.1 0.1 NA 0.127796 0.0765 0.0079 0.085 0.3132 0.0838 0.07 0.01 0.08 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850851 NA NA NA NA NA 0.13 NA 4.5901666 1193 7 102729631 102729631 T G intronic ARMC10 NA NA NA ncRNA_exonic ENSG00000233025 NA NA NA Score=309;Name=lod=24 NA 7q22.1 NA NA NA NA rs2298854 0.52 0.52 0.478 0.477436 0.7435 0.4355 0.6398 0.1823 0.5307 0.74 0.43 0.63 0.21 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49292 NA NA NA NA NA 0.464 NA 4.5898333 1193 6 29912463 29912463 A G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs9260195 0.42 0.42 0.16 NA NA NA NA NA NA 0.43 0.37 0.43 0.47 0.4103 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024139 NA NA NA NA NA 0.08 NA 4.5897 1193 2 89247310 89247310 G A intergenic MIR4436A,NONE dist=135342;dist=NONE NA NA UTR5 ENSG00000243466 ENST00000496168:c.-16C>T NA NA NA NA 2p11.2 NA Name=Pol2 NA NA rs112599788 0.04 0.04 0.033 0.0593051 0.0825 0.0109 0.0562 0.003 0.1636 0.08 0.01 0.03 0.002 0.0752 0.086 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051034 NA NA 0.086308 0.017943 NA 0.029 NA 4.5893254 1193 17 6979179 6979179 A G exonic CLEC10A NA synonymous SNV CLEC10A:NM_006344:exon7:c.T474C:p.P158P,CLEC10A:NM_182906:exon7:c.T546C:p.P182P exonic ENSG00000132514 NA synonymous SNV ENSG00000132514:ENST00000254868:exon7:c.T546C:p.P182P,ENSG00000132514:ENST00000416562:exon7:c.T465C:p.P155P,ENSG00000132514:ENST00000571664:exon7:c.T474C:p.P158P,ENSG00000132514:ENST00000576617:exon7:c.T465C:p.P155P NA NA 17p13.1 NA NA NA NA rs364569 0.42 0.42 0.418 0.424321 0.3569 0.3294 0.3127 0.6936 0.3067 0.35 0.35 0.3 0.7 0.3671 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065374 NA NA 0.353488 0.65547 NA 0.406 NA 4.5891786 1193 1 230410162 230410162 C T intronic GALNT2 NA NA NA intronic ENSG00000143641 NA NA NA NA NA 1q42.13 NA NA Name=18 NA rs12091838 0.16 0.16 0.151 0.134185 0.1402 0.0397 0.1513 0.2474 0.0603 0.14 0.05 0.18 0.31 0.1292 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396144 NA NA 0.141744 0.237404 NA 0.167 NA 4.588856 1193 7 142162050 142162050 A G intergenic LOC730441,MTRNR2L6 dist=189982;dist=212081 NA NA exonic ENSG00000211724 NA synonymous SNV ENSG00000211724:ENST00000390371:exon2:c.T225C:p.D75D NA NA 7q34 NA Name=GATA-1 NA NA rs71878 0.28 0.28 0.248 0.290735 0.3012 0.2083 0.4207 0.2148 0.3753 0.3 0.18 0.4 0.26 0.3206 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362375 NA NA 0.289474 0.226038 NA 0.341 NA 4.588726 1193 9 117051271 117051271 C A intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA Name=10 NA rs10817583 0.18 0.18 0.177 0.170527 0.1382 0.2827 0.1787 0.1316 0.135 0.13 0.28 0.17 0.14 0.1409 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344331 NA NA 0.132356 0.152292 NA 0.123 NA 4.588544 1193 5 25910929 25910929 G A intergenic LOC340107,CDH9 dist=1070237;dist=969780 NA NA ncRNA_exonic ENSG00000251593 NA NA NA Score=572;Name=lod=281 NA 5p14.1 NA NA NA NA rs10942147 0.24 0.24 0.225 0.213658 0.4115 0.1389 0.2666 0.0189 0.3129 0.42 0.14 0.29 0.02 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090639 NA NA NA NA NA 0.152 NA 4.5885 1193 19 39727490 39727490 A G intergenic SYCN,IFNL3 dist=32584;dist=6782 NA NA ncRNA_exonic ENSG00000268510 NA NA NA Score=265;Name=lod=16 NA 19q13.2 NA NA NA NA rs11883201 0.47 0.47 0.462 0.465655 0.4115 0.4157 0.3934 0.6551 0.3681 0.41 0.47 0.46 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958092 NA NA NA NA NA 0.486 NA 4.5885 1193 9 139847500 139847500 G A intronic LCN12 NA NA NA intronic ENSG00000184925 NA NA NA NA NA 9q34.3 NA Name=GABP NA NA rs34635210 0.12 0.12 0.14 0.109425 0.1412 0.0268 0.1196 0.1664 0.0777 0.15 0.03 0.13 0.16 0.124 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4501 NA NA 0.146373 0.161513 NA 0.072 NA 4.588427 1193 3 197346558 197346558 A C ncRNA_intronic LOC220729 NA NA NA ncRNA_intronic ENSG00000214135 NA NA NA NA NA 3q29 NA NA NA NA rs73891642 0.06 0.06 0.072 0.0792732 0.0785 NA 0.0375 0.1793 0.0562 0.08 NA 0.04 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197156 NA NA NA NA NA 0.065 NA 4.5881666 1193 8 144876159 144876159 G A intronic SCRIB NA NA NA intronic ENSG00000180900 NA NA NA NA NA 8q24.3 NA Name=c-Myc,YY1,CTCF_(SC-5916),CTCF,YY1_(C-20) Name=4 NA rs7460093 0.25 0.25 0.228 0.20607 0.497 0.0079 0.3963 0.0151 0.2342 0.51 0.0035 0.41 0.03 0.393 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136284 NA NA 0.521977 0.108034 NA 0.246 NA 4.588023 1193 19 14974930 14974930 G A intergenic OR7A10,OR7A17 dist=22241;dist=16308 NA NA ncRNA_exonic ENSG00000172148 NA NA NA NA NA 19p13.12 NA NA NA NA rs10407452 0.76 0.76 0.758 0.765775 0.6869 0.9435 0.683 0.7368 0.7618 0.71 0.91 0.67 0.72 0.7253 0.91 1 T . . . . 0.064 N 1.000 P . . . . -0.948 T 0.000 T . -3.179 0.001 2.26 0.156 -0.716 5.598 -3.179013 NA 1 NA NA NA 0.783 NA 4.5878 1193 19 9014551 9014551 T C exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon31:c.A38424G:p.R12808R exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon31:c.A38424G:p.R12808R NA NA 19p13.2 NA NA NA NA rs12459127 0.32 0.32 0.215 0.313898 0.3787 0.3095 0.353 0.2126 0.3609 0.37 0.28 0.36 0.23 0.3577 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315711 NA NA 0.342563 0.192466 NA 0.283 NA 4.5877036 1193 1 209805895 209805895 C G intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA Name=Pol2(b) NA NA rs2072940 0.11 0.11 0.09 0.0954473 0.1412 0.0645 0.1427 0.0613 0.093 0.14 0.09 0.15 0.07 0.1343 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.833749 1.833749 NA 0.136967 0.076484 NA 0.138 NA 4.587533 1193 1 19474975 19474975 T G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA Name=4 NA rs2296108 0.49 0.49 0.499 0.516773 0.4125 0.7579 0.536 0.4463 0.4571 0.38 0.72 0.45 0.41 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758587 NA NA NA NA NA 0.5 NA 4.5875 1193 1 27534176 27534176 G T intergenic SLC9A1,WDTC1 dist=52555;dist=26831 NA NA ncRNA_exonic ENSG00000225159 NA NA NA Score=620;Name=lod=441 NA 1p36.11 NA NA NA NA rs34949537 0.32 0.32 0.268 0.324081 0.4125 0.1468 0.2738 0.3858 0.3681 0.42 0.14 0.31 0.36 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.364454 2.364454 NA NA NA NA 0.297 NA 4.5875 1193 4 139482113 139482113 G C intergenic LINC00499,CCRN4L dist=136615;dist=454830 NA NA ncRNA_exonic ENSG00000248795 NA NA NA Score=613;Name=lod=415 NA 4q28.3 NA NA NA NA rs10015897 0.41 0.41 0.423 0.442492 0.4125 0.1925 0.438 0.6089 0.5092 0.41 0.22 0.46 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943729 NA NA NA NA ID=COSN167331;OCCURENCE=1(lung),1(large_intestine) 0.428 NA 4.5875 1193 6 151546985 151546985 C T intergenic MTHFD1L,AKAP12 dist=123962;dist=14149 NA NA ncRNA_exonic ENSG00000213087 NA NA NA Score=713;Name=lod=1050 NA 6q25.1 NA NA NA NA rs7760450 0.41 0.41 0.4 0.421126 0.4125 0.4365 0.3818 0.4365 0.4213 0.42 0.43 0.37 0.42 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00195 NA NA NA NA NA 0.42 NA 4.5875 1193 16 30500761 30500761 G A intronic ITGAL NA NA NA intronic ENSG00000005844 NA NA NA NA NA 16p11.2 NA NA Name=3 NA rs3087438 0.4 0.4 0.394 0.312899 0.4125 0.6101 0.317 0.143 0.1309 0.42 0.65 0.32 0.15 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.108567 NA NA NA NA NA 0.304 NA 4.5875 1193 18 29542204 29542204 A G intergenic TRAPPC8,RNF125 dist=19113;dist=56241 NA NA ncRNA_exonic ENSG00000265273 NA NA NA Score=655;Name=lod=611 NA 18q12.1 NA NA NA NA rs4799610 0.39 0.39 0.364 0.365415 0.4125 0.3363 0.5951 0.2542 0.3344 0.41 0.34 0.55 0.32 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563611 NA NA NA NA ID=COSN165633;OCCURENCE=1(NS) 0.471 NA 4.5875 1193 18 29542839 29542839 C G intergenic TRAPPC8,RNF125 dist=19748;dist=55606 NA NA ncRNA_exonic ENSG00000265273 NA NA NA Score=640;Name=lod=530 NA 18q12.1 NA NA NA NA rs8098106 0.39 0.39 0.392 0.365216 0.4125 0.3363 0.5937 0.2542 0.3344 0.41 0.34 0.55 0.32 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.169216 NA NA NA NA ID=COSN165634;OCCURENCE=1(breast) 0.471 NA 4.5875 1193 18 29543270 29543270 G A intergenic TRAPPC8,RNF125 dist=20179;dist=55175 NA NA ncRNA_exonic ENSG00000265273 NA NA NA Score=640;Name=lod=532 NA 18q12.1 NA NA NA NA rs6506952 0.39 0.39 0.364 0.365016 0.4125 0.3363 0.5937 0.2534 0.3344 0.41 0.34 0.55 0.31 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891015 NA NA NA NA NA 0.471 NA 4.5875 1193 18 44580919 44580919 C T intronic KATNAL2 NA NA NA intronic ENSG00000167216 NA NA NA NA NA 18q21.1 NA Name=USF-1,USF2,USF1_(SC-8983) NA NA rs2576041 0.46 0.46 0.455 0.478235 0.4125 0.4762 0.5908 0.4607 0.4918 0.42 0.45 0.57 0.45 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688445 NA NA NA NA NA 0.428 NA 4.5875 1193 22 30221826 30221826 T A intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA Score=554;Name=lod=239 NA 22q12.2 NA NA NA NA rs9306465 0.37 0.37 0.372 0.284744 0.4125 0.5675 0.2493 0.0968 0.1411 0.42 0.58 0.28 0.11 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.732403 1.732403 NA NA NA NA 0.297 NA 4.5875 1193 17 16004537 16004537 G A intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p11.2 NA NA Name=5 NA rs62073621 0.07 0.07 0.054 0.0503195 0.1551 0.001 0.0937 0.0023 0.0276 0.15 0.0017 0.1 0.002 0.107 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288173 NA NA 0.150814 0.028597 NA 0.058 NA 4.587086 1193 3 187088903 187088903 C A exonic RTP4 NA synonymous SNV RTP4:NM_022147:exon2:c.C483A:p.I161I exonic ENSG00000136514 NA synonymous SNV ENSG00000136514:ENST00000259030:exon2:c.C483A:p.I161I NA NA 3q27.3 NA NA NA NA rs1533595 0.41 0.41 0.376 0.384585 0.3469 0.7351 0.4942 0.1407 0.3139 0.34 0.69 0.43 0.16 0.3822 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28046 NA NA 0.35093 0.207217 NA 0.261 NA 4.5866366 1193 1 6190215 6190215 C T intronic CHD5 NA NA NA exonic ENSG00000116254 NA nonsynonymous SNV ENSG00000116254:ENST00000377999:exon2:c.G283A:p.G95S NA NA 1p36.31 NA NA NA NA rs9434662 0.29 0.29 0.298 0.283946 0.169 0.6339 0.1427 0.1664 0.3006 0.17 0.66 0.17 0.15 0.2335 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170459 NA NA 0.177558 0.166364 NA 0.152 NA 4.5866087 1193 15 25953068 25953068 G A intronic ATP10A NA NA NA intronic ENSG00000206190 NA NA NA NA NA 15q12 NA NA Name=2 NA rs2291355 0.33 0.33 0.303 0.33147 0.4135 0.4931 0.2695 0.084 0.4591 0.41 0.44 0.28 0.1 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801967 NA NA NA NA NA 0.326 NA 4.5865 1193 17 48313230 48313230 G A intergenic COL1A1,TMEM92 dist=34230;dist=35537 NA NA ncRNA_exonic ENSG00000249838 NA NA NA Score=676;Name=lod=745 NA 17q21.33 NA NA NA NA rs62063032 0.3 0.3 0.259 0.258586 0.4135 0.1786 0.4337 0.084 0.2935 0.43 0.22 0.43 0.11 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145466 NA NA NA NA NA 0.196 NA 4.5865 1193 19 2939076 2939076 G C intronic ZNF77 NA NA NA intronic ENSG00000175691 NA NA NA Score=289;Name=lod=20 NA 19p13.3 NA NA NA NA rs78850150 NA NA 0.281 0.379792 0.4135 0.4355 0.4971 0.2867 0.3303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712263 NA NA NA NA NA NA NA 4.5865 1193 20 25257462 25257462 G A intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA Name=GR NA NA rs2424699 0.49 0.49 0.466 0.466054 0.4135 0.9087 0.3141 0.2428 0.4734 0.42 0.92 0.32 0.23 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527363 NA NA NA NA NA 0.42 NA 4.5865 1193 20 31381229 31381229 G A intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA Name=CTCF NA NA rs993419 0.62 0.62 0.588 0.658347 0.4135 0.9931 0.6354 0.5643 0.7086 0.43 0.99 0.61 0.5 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973485 NA NA NA NA NA 0.5 NA 4.5865 1193 11 63978067 63978067 C G intronic FERMT3 NA NA NA intronic ENSG00000149781 NA NA NA NA NA 11q13.1 NA Name=Pol2-4H8 NA NA rs78038516 0.1 0.1 0.088 0.0758786 0.1382 0.0784 0.0821 0.025 0.0736 0.15 0.09 0.09 0.03 0.1184 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131632 NA NA 0.15697 0.049523 NA 0.138 NA 4.58643 1193 12 6435575 6435575 C T intronic PLEKHG6 NA NA NA intronic ENSG00000008323 NA NA NA NA NA 12p13.31 NA Name=SMC3_(ab9263),CTCF,Rad21,CTCF_(C-20) Name=111 NA rs10849442 0.47 0.47 0.501 0.448482 0.4891 0.2679 0.33 0.6899 0.3507 0.51 0.28 0.37 0.68 0.4546 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440081 NA NA 0.470349 0.635951 NA 0.536 NA 4.585951 1193 5 25910023 25910023 A G intergenic LOC340107,CDH9 dist=1069331;dist=970686 NA NA ncRNA_exonic ENSG00000251593 NA NA NA Score=721;Name=lod=1130 NA 5p14.1 NA NA NA NA rs7731520 0.25 0.25 0.231 0.227236 0.4145 0.1389 0.2709 0.0567 0.3252 0.42 0.14 0.3 0.05 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351938 NA NA NA NA NA 0.159 NA 4.5855 1193 5 25910078 25910078 A T intergenic LOC340107,CDH9 dist=1069386;dist=970631 NA NA ncRNA_exonic ENSG00000251593 NA NA NA Score=749;Name=lod=1469 NA 5p14.1 NA NA NA NA rs7731547 0.25 0.25 0.231 0.234824 0.4145 0.1389 0.2709 0.0862 0.3241 0.42 0.14 0.3 0.08 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160361 NA NA NA NA NA 0.181 NA 4.5855 1193 5 176004903 176004903 T C intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA Name=PAX5-C20 NA NA rs11747451 0.23 0.23 0.187 0.199481 0.4145 0.0288 0.4135 0.0628 0.1871 0.41 0.02 0.42 0.07 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505723 NA NA NA NA NA 0.239 NA 4.5855 1193 6 32608981 32608981 A G intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs115508098 NA NA NA 0.383586 0.4145 0.3393 0.5159 0.3971 0.2853 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390543 NA NA NA NA NA NA NA 4.5855 1193 3 3887876 3887876 T C exonic LRRN1 NA synonymous SNV LRRN1:NM_020873:exon2:c.T1551C:p.N517N exonic ENSG00000175928 NA synonymous SNV ENSG00000175928:ENST00000319331:exon2:c.T1551C:p.N517N Score=557;Name=lod=244 NA 3p26.2 NA NA NA NA rs2120609 0.52 0.52 0.495 0.478435 0.7336 0.254 0.572 0.4274 0.4499 0.75 0.26 0.57 0.42 0.6268 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15041 NA NA 0.720814 0.455969 NA 0.623 NA 4.5854526 1193 7 33060946 33060946 A G exonic NT5C3A NA synonymous SNV NT5C3A:NM_001002010:exon5:c.T393C:p.Y131Y,NT5C3A:NM_001002009:exon6:c.T276C:p.Y92Y,NT5C3A:NM_016489:exon6:c.T276C:p.Y92Y,NT5C3A:NM_001166118:exon7:c.T240C:p.Y80Y exonic ENSG00000122643 NA synonymous SNV ENSG00000122643:ENST00000242210:exon5:c.T393C:p.Y131Y,ENSG00000122643:ENST00000405342:exon5:c.T276C:p.Y92Y,ENSG00000122643:ENST00000409787:exon5:c.T276C:p.Y92Y,ENSG00000122643:ENST00000396152:exon6:c.T276C:p.Y92Y,ENSG00000122643:ENST00000381626:exon7:c.T240C:p.Y80Y,ENSG00000122643:ENST00000409467:exon7:c.T240C:p.Y80Y Score=521;Name=lod=174 NA 7p14.3 NA NA NA NA rs3750117 0.68 0.68 0.717 0.666933 0.7087 0.4613 0.7176 0.8139 0.6012 0.71 0.5 0.7 0.83 0.6807 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794299 NA NA 0.691851 0.766349 NA 0.725 NA 4.5854156 1194 19 11241915 11241915 A G intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA Name=ZNF263,c-Fos,CTCF_(SC-5916),PAX5-C20,YY1_(C-20),SMC3_(ab9263),Pol2,PU.1,Znf143_(16618-1-AP),p300,CTCF,Rad21 Name=137 NA rs6413504 0.36 0.36 0.319 0.351038 0.4801 0.2996 0.4971 0.1445 0.4468 0.49 0.27 0.48 0.18 0.4387 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058381 NA NA 0.496395 0.198139 NA 0.312 NA 4.584805 1194 18 693977 693977 G A intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA Name=3 NA rs2305995 NA NA 0.377 0.400359 0.2137 0.5873 0.2594 0.5121 0.3487 NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396193 NA NA 0.20176 0.486272 NA 0.384 NA 4.58454 1194 6 81083790 81083790 T C intergenic BCKDHB,FAM46A dist=27803;dist=1371657 NA NA ncRNA_exonic ENSG00000219547 NA NA NA Score=642;Name=lod=543 NA 6q14.1 NA NA NA NA rs7742251 0.45 0.45 0.386 0.454073 0.4155 0.6667 0.6398 0.1876 0.5031 0.42 0.64 0.6 0.18 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206261 NA NA NA NA NA 0.457 NA 4.5845 1194 6 81083924 81083924 T C intergenic BCKDHB,FAM46A dist=27937;dist=1371523 NA NA ncRNA_exonic ENSG00000219547 NA NA NA Score=728;Name=lod=1207 NA 6q14.1 NA NA NA NA rs7746229 0.45 0.45 0.374 0.439497 0.4155 0.6667 0.6369 0.1331 0.5041 0.42 0.64 0.6 0.15 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.221898 NA NA NA NA NA 0.435 NA 4.5845 1194 11 124235672 124235672 T C intergenic OR8D2,OR8B2 dist=45579;dist=16626 NA NA ncRNA_exonic ENSG00000227737 NA NA NA NA NA 11q24.2 Score=817;Name=V$POU3F2_01 NA NA NA rs3901494 0.42 0.42 0.392 0.373403 0.4155 0.4613 0.4078 0.3918 0.1902 0.4 0.47 0.42 0.37 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295735 1.295735 NA NA NA NA 0.304 NA 4.5845 1194 16 97610 97610 G A intronic POLR3K NA NA NA intronic ENSG00000161980 NA NA NA NA NA 16p13.3 NA NA Name=2 NA rs798675 0.47 0.47 0.486 0.486022 0.4155 0.3968 0.5086 0.6112 0.4652 0.4 0.42 0.49 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136063 NA NA NA NA ID=COSN165079;OCCURENCE=1(breast) 0.399 NA 4.5845 1194 16 1244887 1244887 T A intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA Name=GABP,SMC3_(ab9263),Rad21,CTCF,CTCF_(SC-5916),CTCF_(C-20),ZBTB7A_(SC-34508) NA NA rs3751661 0.35 0.35 0.36 0.344449 0.4155 0.1806 0.3084 0.4856 0.2751 0.41 0.15 0.31 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376883 NA NA NA NA NA 0.362 NA 4.5845 1194 19 50322631 50322631 T G intronic MED25 NA NA NA intronic ENSG00000104973 NA NA NA NA NA 19q13.33 NA Name=ZBTB7A_(SC-34508) NA NA rs370599078 NA NA 0.213 0.451877 0.4155 0.4762 0.4568 0.475 0.4294 NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25673 NA NA NA NA NA 0.261 NA 4.5845 1194 18 77171061 77171061 T G exonic NFATC1 NA synonymous SNV NFATC1:NM_006162:exon2:c.T786G:p.P262P,NFATC1:NM_172387:exon2:c.T747G:p.P249P,NFATC1:NM_172389:exon2:c.T747G:p.P249P,NFATC1:NM_172390:exon2:c.T786G:p.P262P exonic ENSG00000131196 NA synonymous SNV ENSG00000131196:ENST00000253506:exon2:c.T786G:p.P262P,ENSG00000131196:ENST00000318065:exon2:c.T747G:p.P249P,ENSG00000131196:ENST00000329101:exon2:c.T747G:p.P249P,ENSG00000131196:ENST00000427363:exon2:c.T786G:p.P262P,ENSG00000131196:ENST00000542384:exon2:c.T786G:p.P262P,ENSG00000131196:ENST00000586434:exon2:c.T747G:p.P249P,ENSG00000131196:ENST00000587635:exon2:c.T786G:p.P262P,ENSG00000131196:ENST00000591814:exon2:c.T786G:p.P262P,ENSG00000131196:ENST00000592223:exon2:c.T747G:p.P249P NA NA 18q23 NA NA Name=2 NA rs2230112 0.63 0.63 0.586 0.590655 0.7018 0.8562 0.768 0.1483 0.6748 0.7 0.85 0.75 0.16 0.682 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.936821 NA NA 0.698593 0.256856 NA 0.565 NA 4.5842736 1194 17 2186100 2186100 C T exonic SMG6 NA synonymous SNV SMG6:NM_017575:exon8:c.G2502A:p.Q834Q exonic ENSG00000070366 NA synonymous SNV ENSG00000070366:ENST00000263073:exon8:c.G2502A:p.Q834Q,ENSG00000070366:ENST00000544865:exon8:c.G2409A:p.Q803Q NA NA 17p13.3 NA NA NA NA rs749240 0.4 0.4 0.421 0.426318 0.3618 0.2371 0.3573 0.6914 0.3783 0.37 0.22 0.35 0.68 0.3713 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238667 NA NA 0.349302 0.609623 NA 0.457 NA 4.5842646 1194 7 29520042 29520042 G A intronic CHN2 NA NA NA intronic ENSG00000106069 NA NA NA NA NA 7p14.3 NA NA Name=8 NA rs1476991 0.34 0.34 0.342 0.334665 0.4165 0.3849 0.2939 0.1649 0.4571 0.4 0.43 0.31 0.17 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455816 NA NA NA NA NA 0.275 NA 4.5835 1194 19 9014569 9014569 A G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon31:c.T38406C:p.G12802G exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon31:c.T38406C:p.G12802G NA NA 19p13.2 NA NA NA NA rs12462963 0.27 0.27 0.188 0.323083 0.4026 0.3095 0.3689 0.2133 0.3712 0.33 0.23 0.36 0.15 0.3723 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279741 NA NA 0.308428 0.145791 NA 0.319 NA 4.5833386 1194 2 198265526 198265526 A G exonic SF3B1 NA synonymous SNV SF3B1:NM_012433:exon18:c.T2631C:p.G877G exonic ENSG00000115524 NA synonymous SNV ENSG00000115524:ENST00000335508:exon18:c.T2631C:p.G877G Score=738;Name=lod=1325 NA 2q33.1 NA NA NA NA rs788018 0.71 0.71 0.75 0.716653 0.7276 0.5099 0.6326 0.8812 0.7556 0.73 0.59 0.64 0.87 0.6708 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77271 NA NA 0.685116 0.832652 NA 0.717 NA 4.5831506 1194 7 142566163 142566163 C G intronic EPHB6 NA NA NA intronic ENSG00000106123 NA NA NA NA NA 7q34 NA Name=CTCF Name=4 NA rs6944571 0.49 0.49 0.499 0.501398 0.5149 0.1468 0.4179 0.9334 0.3282 0.5 0.13 0.45 0.91 0.4515 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695323 NA NA 0.450814 0.864503 NA 0.5 NA 4.582786 1194 10 101604207 101604207 C T exonic ABCC2 NA synonymous SNV ABCC2:NM_000392:exon28:c.C3972T:p.I1324I exonic ENSG00000023839 NA synonymous SNV ENSG00000023839:ENST00000370449:exon28:c.C3972T:p.I1324I NA NA 10q24.2 NA NA NA NA rs3740066 0.3 0.3 0.29 0.288139 0.3708 0.247 0.3415 0.2163 0.3047 0.36 0.26 0.38 0.21 0.342 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550938 NA NA 0.371279 0.259873 ID=COSM147024;OCCURENCE=1(stomach) 0.348 NA 4.5825876 1194 1 26508480 26508480 T C intronic CNKSR1 NA NA NA intronic ENSG00000142675 NA NA NA NA NA 1p36.11 NA NA Name=34 NA rs2275945 0.3 0.3 0.245 0.336462 0.1014 0.6329 0.4193 0.1573 0.456 0.1 0.65 0.37 0.14 0.2179 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35441 NA NA 0.09814 0.164094 NA 0.239 NA 4.58256 1194 18 7567803 7567803 C G UTR5 PTPRM NM_002845:c.-14C>G,NM_001105244:c.-14C>G NA NA UTR5 ENSG00000173482 ENST00000332175:c.-14C>G,ENST00000580170:c.-14C>G NA NA NA NA 18p11.23 NA NA Name=18 NA rs67536179 0.48 0.48 0.438 0.52496 0.2018 0.7153 0.4035 0.7352 0.4632 0.19 0.72 0.36 0.73 0.3367 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423288 NA NA 0.212326 0.649637 NA 0.014 NA 4.5825074 1194 12 31542191 31542191 A G intronic DENND5B NA NA NA intronic ENSG00000170456 NA NA NA NA NA 12p11.21 NA NA Name=2 NA rs10843937 0.47 0.47 0.45 0.470847 0.4175 0.5764 0.634 0.3495 0.4652 0.42 0.59 0.59 0.35 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488334 1.488334 NA NA NA NA 0.493 NA 4.5825 1194 3 58415590 58415590 C A intronic PDHB NA NA NA UTR3 ENSG00000168291 ENST00000469364:c.*23G>T NA NA NA NA 3p14.3 NA Name=PAX5-N19,PAX5-C20 Name=49 NA rs2070662 0.75 0.75 0.764 0.740415 0.8091 0.7996 0.7248 0.6104 0.7955 0.79 0.81 0.76 0.63 0.7751 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010438 NA NA NA NA NA 0.775 NA 4.5824667 1194 3 197346566 197346566 T G ncRNA_intronic LOC220729 NA NA NA ncRNA_intronic ENSG00000214135 NA NA NA NA NA 3q29 NA NA NA NA rs28703192 0.13 0.13 0.151 0.166334 0.0845 0.0248 0.0562 0.4342 0.1125 0.08 0.03 0.06 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352551 NA NA NA NA NA 0.101 NA 4.5821666 1194 3 197348786 197348786 C A ncRNA_intronic LOC220729 NA NA NA ncRNA_intronic ENSG00000214135 NA NA NA NA NA 3q29 NA NA NA NA rs60794747 0.13 0.13 0.149 0.167931 0.0845 0.0248 0.0562 0.4387 0.1145 0.08 0.03 0.06 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850555 NA NA NA NA NA 0.101 NA 4.5821666 1194 3 170723276 170723276 G A intronic SLC2A2 NA NA NA intronic ENSG00000163581 NA NA NA NA NA 3q26.2 NA Name=JunD NA NA rs5406 0.18 0.18 0.207 0.199281 0.1352 0.0169 0.1715 0.4281 0.1636 0.14 0.02 0.19 0.41 0.1501 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846716 NA NA 0.13314 0.39537 NA 0.333 NA 4.58156 1194 3 97926625 97926625 A G intergenic OR5H15,OR5H6 dist=38140;dist=56504 NA NA ncRNA_exonic ENSG00000249975 NA NA NA Score=467;Name=lod=105 NA 3q11.2 NA NA NA NA rs9837684 0.24 0.24 0.216 0.247404 0.4185 0.0397 0.2334 0.2421 0.3027 0.38 0.03 0.25 0.24 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818365 NA NA NA NA NA 0.196 NA 4.5815 1194 3 97940932 97940932 A G intergenic OR5H15,OR5H6 dist=52447;dist=42197 NA NA ncRNA_exonic ENSG00000248507 NA NA NA Score=321;Name=lod=27 NA 3q11.2 NA NA NA NA rs35658290 0.26 0.26 0.239 0.251597 0.4185 0.0387 0.2334 0.2587 0.3027 0.41 0.03 0.27 0.27 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.176501 2.176501 NA NA NA NA 0.246 NA 4.5815 1194 3 111851817 111851817 C T intronic GCSAM NA NA NA intronic ENSG00000174500 NA NA NA NA NA 3q13.2 NA Name=EBF,Pol2-4H8 NA NA rs950528 0.43 0.43 0.412 0.409145 0.4185 0.4236 0.438 0.3548 0.4376 0.43 0.48 0.44 0.36 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179015 NA NA NA NA NA 0.391 NA 4.5815 1194 6 158658937 158658937 T C intergenic GTF2H5,TULP4 dist=38561;dist=74755 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=606;Name=lod=387 NA 6q25.3 NA NA NA NA rs7753292 0.37 0.37 0.328 0.330671 0.4185 0.4573 0.4611 0.1044 0.3231 0.43 0.47 0.43 0.13 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.495293 1.495293 NA NA NA NA 0.384 NA 4.5815 1194 6 158659332 158659332 C G intergenic GTF2H5,TULP4 dist=38956;dist=74360 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=608;Name=lod=396 NA 6q25.3 NA NA NA NA rs7741588 0.37 0.37 0.336 0.330671 0.4185 0.4573 0.4611 0.1044 0.3231 0.43 0.47 0.43 0.13 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132891 NA NA NA NA NA 0.377 NA 4.5815 1194 6 158659406 158659406 G C intergenic GTF2H5,TULP4 dist=39030;dist=74286 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=608;Name=lod=396 NA 6q25.3 NA NA NA NA rs9295369 0.37 0.37 0.333 0.330471 0.4185 0.4573 0.4611 0.1044 0.3221 0.43 0.47 0.43 0.13 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780764 NA NA NA NA NA 0.384 NA 4.5815 1194 11 113659993 113659993 A C intergenic CLDN25,USP28 dist=8786;dist=8604 NA NA ncRNA_exonic ENSG00000255870,ENSG00000256167 NA NA NA Score=634;Name=lod=504 NA 11q23.2 NA NA NA NA rs906846 0.49 0.49 0.434 0.489816 0.4185 0.5804 0.4669 0.5514 0.4029 0.42 0.56 0.48 0.54 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183025 NA NA NA NA NA 0.572 NA 4.5815 1194 12 96360350 96360350 A T intronic AMDHD1 NA NA NA intronic ENSG00000139344 NA NA NA NA NA 12q23.1 NA Name=GATA-2 NA NA rs1025606 0.52 0.52 0.529 0.501597 0.4185 0.4821 0.5893 0.6929 0.2863 0.41 0.52 0.54 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.99289 1.99289 NA NA NA NA 0.58 NA 4.5815 1194 6 133055612 133055612 G C ncRNA_intronic VNN3 NA NA NA exonic ENSG00000093134 NA nonsynonymous SNV ENSG00000093134:ENST00000417437:exon1:c.C220G:p.P74A NA NA 6q23.2 NA NA NA NA rs764263 0.24 0.24 0.225 0.236422 0.3141 0.2252 0.3256 0.0893 0.3037 0.28 0.24 0.34 0.09 0.2927 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255901 1.255901 0 0.312093 0.116432 NA NA NA 4.581107 1194 8 145582839 145582839 T C intronic SLC52A2 NA NA NA intronic ENSG00000185803 NA NA NA NA NA 8q24.3 NA NA Name=5 NA rs3817681 0.43 0.43 0.383 0.457268 0.4195 0.6875 0.5202 0.1278 0.6595 0.41 0.68 0.49 0.14 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792504 NA NA NA NA NA 0.37 NA 4.5805 1194 14 107183677 107183677 G A intergenic LINC00221,NONE dist=232148;dist=NONE NA NA ncRNA_exonic ENSG00000254056 NA NA NA Score=329;Name=lod=29 NA 14q32.33 NA NA NA NA rs28362068 0.55 0.55 0.493 0.642572 0.4195 0.5069 0.4885 0.9629 0.6881 0.39 0.45 0.53 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483346 NA NA NA NA NA 0.471 NA 4.5805 1194 1 33235626 33235626 G A exonic KIAA1522 NA synonymous SNV KIAA1522:NM_001198972:exon6:c.G669A:p.A223A,KIAA1522:NM_020888:exon6:c.G846A:p.A282A exonic ENSG00000162522 NA synonymous SNV ENSG00000162522:ENST00000373480:exon6:c.G669A:p.A223A,ENSG00000162522:ENST00000373481:exon6:c.G702A:p.A234A,ENSG00000162522:ENST00000401073:exon6:c.G846A:p.A282A NA NA 1p35.1 NA NA NA NA rs3737995 0.32 0.32 0.276 0.307907 0.3648 0.4484 0.438 0.0333 0.3834 0.37 0.45 0.4 0.05 0.368 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.271443 NA NA 0.353641 0.101392 NA 0.341 NA 4.5802256 1194 15 22709847 22709847 T C ncRNA_intronic GOLGA8DP NA NA NA ncRNA_intronic ENSG00000185182 NA NA NA NA NA 15q11.2 NA NA NA NA rs74829243 0.08 0.08 0.046 0.11262 0.0865 0.2123 0.1859 0.0197 0.1104 0.06 0.13 0.13 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649029 NA NA NA NA NA 0.007 NA 4.5801666 1194 19 36900778 36900778 A C intronic ZFP82 NA NA NA intronic ENSG00000181007 NA NA NA NA NA 19q13.12 Score=843;Name=V$FOXO1_02 NA NA NA rs2271842 0.15 0.15 0.146 0.136182 0.1988 0.1617 0.2363 0.0129 0.1411 0.21 0.17 0.19 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125452 NA NA 0.221245 0.04841 NA 0.181 NA 4.579955 1194 2 158818797 158818797 A G intergenic ACVR1,UPP2 dist=86423;dist=32894 NA NA ncRNA_exonic ENSG00000228937 NA NA NA Score=636;Name=lod=513 NA 2q24.1 NA NA NA NA rs11686202 0.41 0.41 0.365 0.440695 0.4205 0.5298 0.6369 0.1324 0.6472 0.4 0.55 0.57 0.16 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015811 NA NA NA NA ID=COSN166298;OCCURENCE=8(haematopoietic_and_lymphoid_tissue) 0.507 NA 4.5795 1194 5 25909764 25909764 C T intergenic LOC340107,CDH9 dist=1069072;dist=970945 NA NA ncRNA_exonic ENSG00000251593 NA NA NA Score=721;Name=lod=1130 NA 5p14.1 NA NA NA NA rs11739167 0.52 0.52 0.523 0.532947 0.4205 0.6101 0.4395 0.6241 0.5123 0.4 0.62 0.47 0.6 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863039 NA NA NA NA NA 0.514 NA 4.5795 1194 5 25911136 25911136 C A intergenic LOC340107,CDH9 dist=1070444;dist=969573 NA NA ncRNA_exonic ENSG00000251593 NA NA NA Score=657;Name=lod=625 NA 5p14.1 NA NA NA NA rs9293194 0.5 0.5 0.527 0.513179 0.4205 0.6121 0.4337 0.5446 0.5204 0.4 0.62 0.46 0.54 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711071 NA NA NA NA NA 0.478 NA 4.5795 1194 5 151230362 151230362 A T intronic GLRA1 NA NA NA intronic ENSG00000145888 NA NA NA Score=802;Name=lod=2417 NA 5q33.1 NA NA NA NA rs6896518 0.41 0.41 0.369 0.451078 0.4205 0.3304 0.4035 0.5719 0.4775 0.43 0.3 0.37 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010977 NA NA NA NA NA 0.428 NA 4.5795 1194 9 32466184 32466184 G A intronic DDX58 NA NA NA intronic ENSG00000107201 NA NA NA Score=265;Name=lod=16 NA 9p21.1 NA NA NA NA rs2274864 0.3 0.3 0.253 0.326677 0.4205 0.2063 0.3588 0.2322 0.4591 0.41 0.17 0.34 0.24 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843453 NA NA NA NA NA 0.341 NA 4.5795 1194 14 22616554 22616554 C A intergenic OR4E2,DAD1 dist=482316;dist=417253 NA NA exonic ENSG00000211809 NA nonsynonymous SNV ENSG00000211809:ENST00000390457:exon2:c.C295A:p.P99T NA NA 14q11.2 NA NA NA NA rs34355797 0.08 0.08 0.092 0.0902556 0.0855 NA 0.062 0.2171 0.0368 0.07 NA 0.07 0.22 0.0766 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719381 NA 0.54 0.092052 0.183857 NA 0.167 NA 4.5791814 1194 13 39446869 39446869 G A intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA Name=CTCF NA NA rs9532295 0.18 0.18 0.162 0.200679 0.1163 0.0972 0.3314 0.3192 0.1411 0.1 0.11 0.28 0.32 0.172 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210313 NA NA 0.132558 0.296868 NA 0.174 NA 4.579142 1194 2 238255120 238255120 C T intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA NA NA rs2270656 0.18 0.18 0.167 0.202676 0.1481 0.0565 0.2147 0.3949 0.1411 0.14 0.05 0.2 0.37 0.1511 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620641 NA NA 0.121744 0.321607 NA 0.159 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080984.1;CLNDSDB=.;CLNDSDBID=. 4.579056 1194 1 43905819 43905819 T C intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA Name=7 NA rs2782649 0.27 0.27 0.234 0.20028 0.4215 0.0823 0.379 0.1044 0.0971 0.42 0.08 0.41 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378105 NA NA NA NA NA 0.319 NA 4.5785 1194 10 111647738 111647738 C T intronic XPNPEP1 NA NA NA intronic ENSG00000108039 NA NA NA NA NA 10q25.1 NA NA Name=2 NA rs472049 0.36 0.36 0.355 0.330871 0.4215 0.1171 0.3689 0.5144 0.183 0.44 0.12 0.4 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696832 NA NA NA NA NA 0.362 NA 4.5785 1194 22 16871463 16871463 G A intergenic OR11H1,CCT8L2 dist=421659;dist=200185 NA NA ncRNA_exonic ENSG00000225293 NA NA NA Score=660;Name=lod=644 NA 22q11.1 NA NA NA NA rs62223294 0.41 0.41 0.385 0.371206 0.4215 0.3075 0.3977 0.4213 0.2986 0.45 0.35 0.41 0.43 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445049 NA NA NA NA NA 0.246 NA 4.5785 1194 20 57268867 57268867 C A exonic NPEPL1 NA synonymous SNV NPEPL1:NM_024663:exon2:c.C225A:p.T75T,NPEPL1:NM_001204872:exon3:c.C141A:p.T47T,NPEPL1:NM_001204873:exon3:c.C81A:p.T27T exonic ENSG00000215440 NA synonymous SNV ENSG00000215440:ENST00000356091:exon2:c.C225A:p.T75T,ENSG00000215440:ENST00000525817:exon3:c.C81A:p.T27T,ENSG00000215440:ENST00000525967:exon3:c.C141A:p.T47T NA NA 20q13.32 NA NA NA NA rs3746396 0.35 0.35 0.327 0.29992 0.3429 0.376 0.2983 0.1982 0.316 0.37 0.43 0.32 0.22 0.3531 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.306876 1.306876 NA 0.392339 0.220518 NA 0.319 NA 4.5783276 1194 13 111156153 111156153 G A ncRNA_intronic COL4A2-AS1 NA NA NA ncRNA_intronic ENSG00000232814 NA NA NA NA NA 13q34 NA Name=Pol2,EBF,ERalpha_a NA NA rs9301460 0.34 0.34 0.35 0.359625 0.3718 0.2341 0.3012 0.4455 0.4018 0.36 0.22 0.3 0.47 0.3541 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301041 NA NA 0.362458 0.44258 NA 0.457 NA 4.5783086 1194 4 123536963 123536963 G A exonic IL21 NA synonymous SNV IL21:NM_001207006:exon3:c.C234T:p.C78C,IL21:NM_021803:exon3:c.C234T:p.C78C exonic ENSG00000138684 NA synonymous SNV ENSG00000138684:ENST00000264497:exon3:c.C234T:p.C78C Score=419;Name=lod=67 NA 4q27 NA NA NA NA rs4833837 0.8 0.8 0.812 0.840455 0.6581 0.8869 0.817 0.9531 0.8446 0.66 0.88 0.79 0.95 0.7434 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92885 NA NA 0.687093 0.918066 NA 0.783 NA 4.5780736 1194 1 19566296 19566296 T C intronic EMC1 NA NA NA ncRNA_intronic ENSG00000230424 NA NA NA NA NA 1p36.13 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs2273046 0.42 0.42 0.41 0.42472 0.2237 0.6806 0.4395 0.438 0.3395 0.21 0.71 0.39 0.43 0.3122 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669816 NA NA 0.219535 0.407172 NA 0.29 NA 4.5778983 1194 4 42032024 42032024 A G intronic SLC30A9 NA NA NA ncRNA_exonic ENSG00000249212 NA NA NA Score=606;Name=lod=387 NA 4p13 NA NA NA NA rs4861155 0.66 0.66 0.609 0.622604 0.7555 0.9484 0.7695 0.0847 0.773 0.77 0.95 0.76 0.09 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249023 NA NA NA NA NA 0.5 NA 4.5778333 1194 17 7533423 7533423 G A upstream SHBG NA NA NA intronic ENSG00000129214 NA NA NA NA NA 17p13.1 NA Name=SP1,HNF4G_(SC-6558),RXRA,p300,HNF4A_(H-171),HDAC2_(SC-6296),Egr-1 NA NA rs1799941 0.12 0.12 0.11 0.0988419 0.2555 0.001 0.1499 0.0393 0.0828 0.24 0.0017 0.18 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129675 NA NA NA NA NA 0.08 NA 4.5778333 1194 2 198508951 198508951 G A exonic RFTN2 NA synonymous SNV RFTN2:NM_144629:exon3:c.C369T:p.L123L exonic ENSG00000162944 NA synonymous SNV ENSG00000162944:ENST00000295049:exon3:c.C369T:p.L123L Score=501;Name=lod=145 NA 2q33.1 NA NA NA NA rs10497806 0.68 0.68 0.733 0.680711 0.7376 0.4603 0.6167 0.8676 0.6421 0.73 0.48 0.64 0.86 0.66 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212615 NA NA 0.691279 0.833409 NA 0.688 NA 4.5777876 1194 1 211380770 211380770 T C intergenic KCNH1,RCOR3 dist=73313;dist=51938 NA NA ncRNA_exonic ENSG00000226986 NA NA NA Score=680;Name=lod=771 NA 1q32.2 NA NA NA NA rs7525401 0.5 0.5 0.499 0.544129 0.4225 0.3919 0.4294 0.8411 0.5061 0.41 0.38 0.4 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.383228 NA NA NA NA ID=COSN163430;OCCURENCE=1(breast) 0.471 NA 4.5775 1194 5 169435396 169435396 G T intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA Score=492;Name=lod=133 NA 5q35.1 NA NA NA NA rs2287726 0.34 0.34 0.34 0.340655 0.4225 0.2063 0.3905 0.382 0.3037 0.4 0.21 0.37 0.38 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.828018 2.828018 NA NA NA NA 0.217 NA 4.5775 1194 7 9766149 9766149 G A intergenic PER4,NDUFA4 dist=90702;dist=1205431 NA NA ncRNA_exonic ENSG00000197320 NA NA NA Score=737;Name=lod=1316 NA 7p21.3 NA NA NA NA rs62445676 0.35 0.35 0.33 0.322684 0.4225 0.3244 0.4063 0.2239 0.2924 0.42 0.34 0.39 0.21 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49713 NA NA NA NA NA 0.297 NA 4.5775 1194 14 20813672 20813672 A G intronic PARP2 NA NA NA ncRNA_intronic ENSG00000254846 NA NA NA NA NA 14q11.2 NA Name=MafK_(ab50322) NA NA rs3093890 0.18 0.18 0.143 0.205471 0.2565 0.1845 0.1988 0.0446 0.3967 0.25 0.18 0.2 0.06 0.246 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.198822 2.198822 NA 0.254144 0.08001 NA 0.196 NA 4.5766893 1194 1 59465725 59465725 G A intergenic LOC100131060,HSD52 dist=100341;dist=131883 NA NA ncRNA_exonic ENSG00000228121 NA NA NA Score=738;Name=lod=1328 NA 1p32.1 NA NA NA NA rs2716147 0.41 0.41 0.419 0.417732 0.4235 0.2133 0.3847 0.6884 0.2802 0.42 0.2 0.39 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.388801 NA NA NA NA NA 0.428 NA 4.5765 1194 1 59465926 59465926 A C intergenic LOC100131060,HSD52 dist=100542;dist=131682 NA NA ncRNA_exonic ENSG00000228121 NA NA NA Score=738;Name=lod=1328 NA 1p32.1 NA NA NA NA rs2764901 0.41 0.41 0.409 0.417732 0.4235 0.2133 0.3847 0.6884 0.2802 0.42 0.2 0.39 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281853 NA NA NA NA NA 0.428 NA 4.5765 1194 6 39926174 39926174 C T intergenic MOCS1,FLJ41649 dist=23884;dist=385910 NA NA ncRNA_exonic ENSG00000180211 NA NA NA Score=660;Name=lod=643 NA 6p21.2 NA NA NA NA rs1998391 0.36 0.36 0.309 0.370208 0.4235 0.3899 0.5216 0.118 0.5286 0.42 0.36 0.54 0.13 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.91692 NA NA NA NA NA 0.239 NA 4.5765 1194 7 65888570 65888570 C A intergenic LINC00174,LOC493754 dist=23175;dist=129983 NA NA ncRNA_exonic ENSG00000231234 NA NA NA Score=766;Name=lod=1732 NA 7q11.21 NA NA NA NA rs6961990 0.43 0.43 0.37 0.448283 0.4235 0.623 0.4452 0.2572 0.5542 0.42 0.62 0.42 0.23 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.081619 2.081619 NA NA NA NA 0.399 NA 4.5765 1194 18 84841 84841 C T intergenic NONE,ROCK1P1 dist=NONE;dist=24224 NA NA ncRNA_exonic ENSG00000262081 NA NA NA Score=329;Name=lod=29 NA 18p11.32 NA NA NA NA rs66758167 0.55 0.55 0.522 0.514377 0.4235 0.9474 0.5202 0.3048 0.4407 0.43 0.93 0.49 0.32 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300229 NA NA NA NA NA 0.435 NA 4.5765 1194 19 54849463 54849463 C T exonic LILRA4 NA synonymous SNV LILRA4:NM_012276:exon4:c.G399A:p.V133V exonic ENSG00000239961 NA synonymous SNV ENSG00000239961:ENST00000291759:exon4:c.G399A:p.V133V NA NA 19q13.42 NA NA NA NA rs12976217 0.31 0.31 0.293 0.345248 0.3509 0.2361 0.3963 0.3306 0.4356 0.35 0.24 0.37 0.31 0.3718 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921017 NA NA 0.368372 0.342714 NA 0.355 NA 4.5755946 1194 1 59465881 59465881 C G intergenic LOC100131060,HSD52 dist=100497;dist=131727 NA NA ncRNA_exonic ENSG00000228121 NA NA NA Score=738;Name=lod=1328 NA 1p32.1 NA NA NA NA rs2716149 0.43 0.43 0.419 0.441693 0.4245 0.2133 0.3919 0.7761 0.2781 0.42 0.2 0.4 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073812 NA NA NA NA NA 0.442 NA 4.5755 1194 4 139482703 139482703 G A intergenic LINC00499,CCRN4L dist=137205;dist=454240 NA NA ncRNA_exonic ENSG00000248795 NA NA NA Score=701;Name=lod=943 NA 4q28.3 NA NA NA NA rs11730882 0.42 0.42 0.424 0.444089 0.4245 0.1925 0.4424 0.6014 0.5123 0.42 0.22 0.46 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.038123 NA NA NA NA ID=COSN167333;OCCURENCE=1(large_intestine) 0.478 NA 4.5755 1194 19 43439848 43439848 G A exonic PSG7 NA unknown UNKNOWN exonic ENSG00000221878 NA unknown UNKNOWN NA NA 19q13.31 NA NA NA NA rs77964180 0.11 0.11 0.074 0.107428 0.1431 0.003 0.2176 0.0893 0.1247 0.15 0.0017 0.21 0.12 0.1351 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37886 NA NA 0.146313 0.120854 NA 0.13 NA 4.575487 1194 2 139429068 139429068 G A exonic NXPH2 NA synonymous SNV NXPH2:NM_007226:exon2:c.C219T:p.Y73Y exonic ENSG00000144227 NA synonymous SNV ENSG00000144227:ENST00000272641:exon2:c.C219T:p.Y73Y Score=581;Name=lod=306 NA 2q22.1 NA NA NA NA rs10803570 0.68 0.68 0.682 0.658546 0.7177 0.4474 0.6888 0.8933 0.4765 0.72 0.47 0.72 0.86 0.6719 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060939 NA NA 0.701674 0.861184 NA 0.768 NA 4.5753926 1194 5 6651970 6651970 A G exonic SRD5A1 NA synonymous SNV SRD5A1:NM_001047:exon2:c.A309G:p.P103P exonic ENSG00000145545 NA synonymous SNV ENSG00000145545:ENST00000274192:exon2:c.A309G:p.P103P NA NA 5p15.31 NA NA NA NA rs3822430 0.32 0.32 0.291 0.289736 0.3897 0.1587 0.3919 0.3321 0.1922 0.37 0.15 0.43 0.35 0.3274 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801915 NA NA 0.374302 0.327054 ID=COSM149787;OCCURENCE=1(stomach) 0.435 NA 4.5752646 1195 1 38411350 38411350 C T intronic INPP5B NA NA NA intronic ENSG00000204084 NA NA NA NA NA 1p34.3 NA Name=HMGN3,ZBTB7A_(SC-34508) NA NA rs11485595 0.33 0.33 0.323 0.280551 0.4254 0.3155 0.353 0.0726 0.3252 0.46 0.35 0.35 0.1 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16389 NA NA NA NA NA 0.377 NA 4.5746 1195 7 65971009 65971009 T G intergenic LINC00174,LOC493754 dist=105614;dist=47544 NA NA ncRNA_exonic ENSG00000179342 NA NA NA NA NA 7q11.21 NA NA Name=15 NA rs3735148 0.44 0.44 0.394 0.463259 0.4254 0.623 0.4496 0.3003 0.5675 0.42 0.62 0.42 0.27 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081187 NA NA NA NA NA 0.42 NA 4.5746 1195 9 117792426 117792426 G T intronic TNC NA NA NA intronic ENSG00000041982 NA NA NA NA NA 9q33.1 NA NA Name=3 NA rs13286441 0.35 0.35 0.364 0.342851 0.4254 0.2351 0.3602 0.3654 0.3262 0.43 0.23 0.34 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000205 NA NA NA NA NA 0.37 NA 4.5746 1195 16 55536687 55536687 A G intronic MMP2 NA NA NA intronic ENSG00000087245 NA NA NA Score=582;Name=lod=309 NA 16q12.2 NA Name=TCF4 NA NA rs243834 0.48 0.48 0.462 0.48762 0.4672 0.6379 0.428 0.3495 0.5828 0.44 0.64 0.46 0.39 0.4841 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187735 NA NA 0.474186 0.382621 ID=COSM148081;OCCURENCE=1(stomach) 0.543 NA 4.574514 1195 19 35614272 35614272 A G intronic FXYD3 NA NA NA intronic ENSG00000089356 NA NA NA NA NA 19q13.12 NA NA Name=22 NA rs937088 0.26 0.26 NA 0.38738 0.3946 0.3155 0.3458 0.3328 0.5573 0.32 0.2 0.2 0.28 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060693 NA NA 0.031113 0.023844 NA NA NA 4.574287 1195 11 5862780 5862780 T C exonic OR52E6 NA synonymous SNV OR52E6:NM_001005167:exon1:c.A348G:p.V116V exonic ENSG00000205409 NA synonymous SNV ENSG00000205409:ENST00000329322:exon1:c.A348G:p.V116V,ENSG00000205409:ENST00000379946:exon2:c.A360G:p.V120V NA NA 11p15.4 NA NA NA NA rs4362172 0.4 0.4 0.401 0.384185 0.3728 0.4603 0.3184 0.3782 0.3722 0.39 0.46 0.33 0.41 0.3694 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526107 NA NA 0.350209 0.368015 NA 0.406 NA 4.5742576 1195 11 5863113 5863113 G A exonic OR52E6 NA synonymous SNV OR52E6:NM_001005167:exon1:c.C15T:p.N5N exonic ENSG00000205409 NA synonymous SNV ENSG00000205409:ENST00000329322:exon1:c.C15T:p.N5N,ENSG00000205409:ENST00000379946:exon2:c.C27T:p.N9N NA NA 11p15.4 NA NA NA NA rs10742810 0.4 0.4 0.404 0.384185 0.3728 0.4593 0.3184 0.379 0.3722 0.39 0.46 0.33 0.41 0.3701 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065326 NA NA 0.349778 0.360932 ID=COSM429318;OCCURENCE=1(breast) 0.406 NA 4.5739886 1195 19 18234005 18234005 G A intronic MAST3 NA NA NA intronic ENSG00000099308 NA NA NA NA NA 19p13.11 NA NA Name=18 NA rs12611216 0.11 0.11 0.112 0.0888578 0.1531 0.1458 0.1254 0.0121 0.0419 0.16 0.12 0.12 0.02 0.1275 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601494 NA NA 0.145431 0.027103 NA 0.065 NA 4.573969 1195 5 6652009 6652009 G A exonic SRD5A1 NA synonymous SNV SRD5A1:NM_001047:exon2:c.G348A:p.A116A exonic ENSG00000145545 NA synonymous SNV ENSG00000145545:ENST00000274192:exon2:c.G348A:p.A116A NA NA 5p15.31 NA NA NA NA rs8192186 0.32 0.32 0.299 0.292133 0.3897 0.1587 0.3919 0.3328 0.2035 0.37 0.15 0.43 0.35 0.3289 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234911 NA NA 0.374302 0.327054 ID=COSM149788;OCCURENCE=1(stomach) 0.428 NA 4.5737646 1195 21 35275955 35275955 G A intronic ATP5O NA NA NA exonic ENSG00000241837 NA unknown UNKNOWN NA NA 21q22.11 NA Name=CTCF_(SC-5916) NA NA rs9980730 0.99 0.99 0.987 0.991014 0.9751 1 0.9885 0.9992 0.9888 0.98 1 0.99 1 0.9811 1 . . . . . . . . 1.000 P . . . . -1.010 T 0.000 T . -1.291 0.039 2.38 0.334 0.134 5.920 -1.291147 NA NA 0.970116 0.992283 NA 0.993 NA 4.573684 1195 2 212163763 212163763 T A intergenic CPS1,ERBB4 dist=619932;dist=76679 NA NA ncRNA_exonic ENSG00000231017 NA NA NA Score=668;Name=lod=691 NA 2q34 NA NA NA NA rs17692845 0.3 0.3 0.291 0.3123 0.4264 0.3502 0.2637 0.0779 0.5072 0.44 0.33 0.28 0.08 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315367 NA NA NA NA NA 0.261 NA 4.5736 1195 10 50863083 50863083 A C intronic CHAT NA NA NA intronic ENSG00000070748 NA NA NA NA NA 10q11.23 NA NA Name=2 NA rs12264845 0.45 0.45 0.448 0.465655 0.4264 0.7212 0.3559 0.2867 0.5624 0.43 0.66 0.41 0.28 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94779 NA NA NA NA NA 0.449 NA 4.5736 1195 12 133360964 133360964 G A intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA Name=6 NA rs1009320 0.5 0.5 0.502 0.493011 0.4264 0.629 0.5476 0.4372 0.4581 0.44 0.62 0.54 0.45 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871915 NA NA NA NA NA 0.283 NA 4.5736 1195 19 8839559 8839559 G A intergenic ACTL9,OR2Z1 dist=30387;dist=1832 NA NA ncRNA_exonic ENSG00000269244 NA NA NA Score=731;Name=lod=1241 NA 19p13.2 NA NA NA NA rs36241 0.26 0.26 0.252 0.209665 0.4264 0.1071 0.2968 0.1082 0.1677 0.43 0.12 0.32 0.11 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260133 NA NA NA NA NA 0.246 NA 4.5736 1195 10 20436875 20436875 G A intronic PLXDC2 NA NA NA intronic ENSG00000120594 NA NA NA NA NA 10p12.31 NA NA Name=5 NA rs11815026 0.27 0.27 0.27 0.26258 0.1282 0.379 0.1772 0.4274 0.1186 0.14 0.4 0.14 0.43 0.176 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543028 NA NA 0.122326 0.38788 NA 0.174 NA 4.573474 1195 1 226573364 226573364 A G exonic PARP1 NA synonymous SNV PARP1:NM_001618:exon7:c.T852C:p.A284A exonic ENSG00000143799 NA synonymous SNV ENSG00000143799:ENST00000366794:exon7:c.T852C:p.A284A NA NA 1q42.12 NA NA NA NA rs1805414 0.54 0.54 0.5 0.516573 0.329 0.7946 0.5029 0.5582 0.3763 0.35 0.8 0.48 0.56 0.4228 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471364 NA NA 0.341512 0.536995 NA 0.558 NA 4.5733546 1195 7 9767511 9767511 C A intergenic PER4,NDUFA4 dist=92064;dist=1204069 NA NA ncRNA_exonic ENSG00000197320 NA NA NA Score=808;Name=lod=2568 NA 7p21.3 NA NA NA NA rs498336 0.41 0.41 0.404 0.395168 0.4274 0.374 0.4352 0.4281 0.3108 0.42 0.38 0.43 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392846 NA NA NA NA NA 0.486 NA 4.5726 1195 8 145000898 145000898 A G intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA Name=4 NA rs56401829 0.25 0.25 0.249 0.230831 0.4274 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580535 NA NA NA NA NA 0.283 NA 4.5726 1195 5 127640783 127640783 G A intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA NA NA 5q23.3 NA NA Name=31 NA rs27713 0.74 0.74 NA 0.734425 0.7018 0.8433 0.7133 0.6694 0.7587 0.72 0.85 0.69 0.7 0.7258 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918249 NA NA NA NA NA 0.543 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117024.2|RCV000125064.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.5724 1195 3 49723274 49723274 G A intronic MST1 NA NA NA intronic ENSG00000173531 NA NA NA NA NA 3p21.31 NA NA Name=3 NA rs75193211 NA NA 0.297 NA NA NA NA NA NA NA NA NA NA 0.4278 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176983 NA NA NA NA NA NA NA 4.5722 1195 11 47689343 47689343 C T intronic AGBL2 NA NA NA intronic ENSG00000165923 NA NA NA NA NA 11p11.2 NA NA Name=9 NA rs10742817 0.33 0.33 0.32 0.350639 0.4284 0.4306 0.3213 0.112 0.5317 0.42 0.35 0.34 0.15 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16648 NA NA NA NA NA 0.297 NA 4.5716 1195 17 10542471 10542471 T G exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon25:c.A3138C:p.R1046R exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon24:c.A3138C:p.R1046R,ENSG00000109063:ENST00000583535:exon25:c.A3138C:p.R1046R NA NA 17p13.1 NA NA NA NA rs2285475 0.5 0.5 0.489 0.466454 0.7584 0.3839 0.5346 0.2398 0.5092 0.74 0.37 0.52 0.27 0.6085 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259221 NA NA 0.728256 0.295506 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117668.1;CLNDSDB=.;CLNDSDBID=. 4.5715106 1195 19 33635761 33635761 C T exonic WDR88 NA synonymous SNV WDR88:NM_173479:exon3:c.C399T:p.D133D exonic ENSG00000166359 NA synonymous SNV ENSG00000166359:ENST00000355868:exon3:c.C399T:p.D133D,ENSG00000166359:ENST00000361680:exon3:c.C399T:p.D133D,ENSG00000166359:ENST00000592765:exon4:c.C399T:p.D133D NA NA 19q13.11 NA NA NA NA rs3848596 0.45 0.45 0.446 0.511182 0.3241 0.5258 0.5692 0.4932 0.6718 0.32 0.54 0.51 0.49 0.4337 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019272 NA NA 0.337558 0.478665 NA 0.428 NA 4.5713086 1195 6 29713429 29713429 C T ncRNA_intronic HLA-F-AS1 NA NA NA ncRNA_exonic ENSG00000214922 NA NA NA NA NA 6p22.1 NA NA NA NA rs2076174 0.17 0.17 0.163 0.195288 0.0954 0.2827 0.1009 0.2239 0.2362 0.09 0.27 0.09 0.22 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084585 NA NA NA NA NA 0.188 NA 4.5712666 1195 6 29976499 29976499 C G ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs9261111 0.18 0.18 0.199 0.191294 0.0954 0.1905 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796776 NA NA NA NA NA 0.167 NA 4.5712666 1195 6 29999941 29999941 T C ncRNA_intronic ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204623,ENSG00000232757 NA NA NA NA NA 6p22.1 NA NA NA NA rs2394257 0.18 0.18 0.139 0.191693 0.0954 0.1905 0.1758 0.2988 0.1585 0.09 0.19 0.2 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086055 NA NA NA NA NA 0.029 NA 4.5712666 1195 6 30000201 30000201 G A ncRNA_intronic ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204623,ENSG00000232757 NA NA NA NA NA 6p22.1 NA NA NA NA rs9261188 0.18 0.18 0.166 0.191094 0.0954 0.1905 0.1729 0.2988 0.1575 0.09 0.2 0.2 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835407 NA NA NA NA NA 0.167 NA 4.5712666 1195 15 33304954 33304954 C T intronic FMN1 NA NA NA ncRNA_exonic ENSG00000259686 NA NA NA Score=289;Name=lod=20 NA 15q13.3 NA NA NA NA rs345825 0.67 0.67 0.633 0.63778 0.7624 0.8512 0.7622 0.2337 0.7474 0.77 0.84 0.76 0.26 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38935 NA NA NA NA NA 0.645 NA 4.5709333 1195 21 46096231 46096231 A G intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000229880 NA NA NA Score=474;Name=lod=113 NA 21q22.3 NA NA NA NA rs2838623 0.75 0.75 0.739 0.768371 0.7624 0.6617 0.7507 0.8427 0.7965 0.76 0.63 0.77 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.280942 NA NA NA NA NA 0.696 NA 4.5709333 1195 21 46096657 46096657 G C intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000229880 NA NA NA Score=674;Name=lod=730 NA 21q22.3 NA NA NA NA rs2838624 0.76 0.76 0.754 0.779752 0.7624 0.6607 0.7522 0.8865 0.7955 0.76 0.63 0.77 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.452906 NA NA NA NA NA 0.703 NA 4.5709333 1195 21 46096731 46096731 A G intronic TSPEAR NA NA NA ncRNA_exonic ENSG00000229880 NA NA NA Score=666;Name=lod=681 NA 21q22.3 NA NA NA NA rs2838625 0.77 0.77 0.763 0.786941 0.7624 0.6627 0.7507 0.9123 0.7965 0.76 0.63 0.77 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458666 NA NA NA NA NA 0.703 NA 4.5709333 1195 17 10543463 10543463 T C exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon22:c.A2532G:p.A844A exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon21:c.A2532G:p.A844A,ENSG00000109063:ENST00000583535:exon22:c.A2532G:p.A844A NA NA 17p13.1 NA NA NA NA rs2285469 0.5 0.5 0.487 0.466454 0.7584 0.3839 0.5346 0.2398 0.5092 0.74 0.37 0.52 0.27 0.6085 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277658 NA NA 0.728837 0.295506 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117662.1;CLNDSDB=.;CLNDSDBID=. 4.5709296 1195 13 50466815 50466815 C T ncRNA_exonic CTAGE10P NA NA NA ncRNA_exonic ENSG00000181358 NA NA NA NA NA 13q14.2 NA NA NA NA rs56215346 0.08 0.08 0.053 NA NA NA NA NA NA 0.12 0.0017 0.12 0.06 0.0959 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471783 NA NA NA NA NA 0.043 NA 4.5707666 1195 17 45887951 45887951 G T intronic OSBPL7 NA NA NA intronic ENSG00000006025 NA NA NA NA NA 17q21.32 NA Name=NRSF,GATA-1,EBF,TAL1_(SC-12984) Name=128 NA rs2074189 0.44 0.44 0.458 0.408546 0.4801 0.2817 0.4078 0.444 0.4182 0.48 0.32 0.47 0.48 0.451 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045804 NA NA 0.49814 0.440309 NA 0.449 NA 4.57076 1195 17 10536018 10536018 G A exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon34:c.C4731T:p.I1577I exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon33:c.C4731T:p.I1577I,ENSG00000109063:ENST00000583535:exon34:c.C4731T:p.I1577I NA NA 17p13.1 NA NA NA NA rs2285479 0.51 0.51 0.494 0.469649 0.7584 0.3849 0.5346 0.2504 0.5102 0.74 0.37 0.52 0.29 0.6089 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083489 NA NA 0.728721 0.300953 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117675.1;CLNDSDB=.;CLNDSDBID=. 4.5706456 1195 4 2178108 2178108 C T intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA Name=3 NA rs6599411 0.31 0.31 0.309 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 0.1896 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097093 NA NA 0.115698 0.504312 NA 0.377 NA 4.570402 1195 19 41808432 41808432 A T intronic HNRNPUL1 NA NA NA intronic ENSG00000105323,ENSG00000105329 NA NA NA NA NA 19q13.2 NA Name=NFKB NA NA rs11881940 0.17 0.17 0.144 0.138179 0.171 0.2748 0.1311 0.0673 0.0644 0.16 0.27 0.16 0.06 0.2586 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650563 NA NA NA NA NA 0.13 NA 4.5704 1195 19 35616087 35616087 G A UTR3 LGI4 NM_139284:c.*10C>T NA NA UTR3 ENSG00000153902 ENST00000392225:c.*216C>T,ENST00000310123:c.*10C>T,ENST00000587780:c.*985C>T NA NA NA NA 19q13.12 NA Name=Pol2 NA NA rs3826989 0.25 0.25 0.198 0.207867 0.2455 0.2788 0.4107 0.0741 0.1329 0.25 0.33 0.37 0.08 0.265 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498016 NA NA 0.252558 0.109396 NA 0.239 NA 4.5702754 1195 11 71510521 71510521 G A ncRNA_intronic ALG1L9P NA NA NA ncRNA_intronic ENSG00000248671 NA NA NA NA NA 11q13.4 NA NA NA NA rs138217605 0.04 0.04 0.037 0.0295527 0.0964 NA 0.0447 0.0045 0.0143 0.09 NA 0.03 0.0041 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784141 NA NA NA NA NA 0.036 NA 4.5702666 1195 16 56652431 56652431 G A ncRNA_intronic MT1L NA NA NA ncRNA_intronic ENSG00000260549 NA NA NA NA NA 16q12.2 NA NA NA NA rs2018724 0.05 0.05 0.034 0.063099 0.0964 0.0129 0.0764 0.0159 0.135 0.1 0.0017 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359763 NA NA NA NA NA 0.094 NA 4.5702666 1195 17 10542765 10542765 A G exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon24:c.T2952C:p.S984S exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon23:c.T2952C:p.S984S,ENSG00000109063:ENST00000583535:exon24:c.T2952C:p.S984S NA NA 17p13.1 NA NA NA NA rs2285474 0.5 0.5 0.478 0.466454 0.7584 0.3839 0.5346 0.2398 0.5092 0.74 0.37 0.52 0.27 0.6094 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.558774 NA NA 0.728721 0.295506 NA 0.601 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117665.1;CLNDSDB=.;CLNDSDBID=. 4.5701456 1195 19 17531450 17531450 G A intronic MVB12A NA NA NA ncRNA_intronic ENSG00000269481 NA NA NA NA NA 19p13.11 NA Name=E2F6_(H-50),Pol2,SMC3_(ab9263),E2F6,Rad21,CTCF,CTCF_(SC-5916),Egr-1,Pol2-4H8,ZNF263,ZBTB7A_(SC-34508),CTCF_(C-20) Name=52 NA rs2303680 0.6 0.6 0.611 0.606829 0.5805 0.4385 0.6095 0.7277 0.6421 0.6 0.48 0.6 0.74 0.6029 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640743 NA NA 0.579884 0.713799 NA 0.688 NA 4.5700493 1195 3 184573555 184573555 C T exonic VPS8 NA synonymous SNV VPS8:NM_001009921:exon13:c.C1092T:p.Y364Y,VPS8:NM_015303:exon13:c.C1086T:p.Y362Y exonic ENSG00000156931 NA synonymous SNV ENSG00000156931:ENST00000287546:exon13:c.C1092T:p.Y364Y,ENSG00000156931:ENST00000436792:exon13:c.C1086T:p.Y362Y,ENSG00000156931:ENST00000446204:exon13:c.C1086T:p.Y362Y,ENSG00000156931:ENST00000437079:exon14:c.C1092T:p.Y364Y NA NA 3q27.2 NA NA NA NA rs6443999 0.52 0.52 0.517 0.554313 0.3559 0.6587 0.4611 0.6755 0.5532 0.37 0.63 0.48 0.65 0.4146 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814064 NA NA 0.326187 0.610005 NA 0.558 NA 4.5699796 1195 7 142231701 142231701 G T intergenic LOC730441,MTRNR2L6 dist=259633;dist=142430 NA NA exonic ENSG00000211717 NA nonsynonymous SNV ENSG00000211717:ENST00000390364:exon2:c.C216A:p.H72Q NA NA 7q34 NA NA Name=2 NA rs17248 0.63 0.63 0.581 0.586062 0.4016 0.7054 0.5764 0.6195 0.6145 0.5 0.75 0.62 0.71 0.4704 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014272 NA 0.13 0.392117 0.547091 ID=COSN229380;OCCURENCE=1(skin) 0.587 NA 4.5692164 1195 20 34328848 34328848 C T intronic RBM39 NA NA NA intronic ENSG00000131051 NA NA NA NA NA 20q11.22 NA NA Name=142 NA rs2425122 0.17 0.17 0.172 0.195288 0.1402 0.1319 0.1599 0.3321 0.1575 0.13 0.12 0.19 0.27 0.1531 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86104 NA NA 0.137505 0.282592 NA 0.145 NA 4.569195 1195 11 64127902 64127902 G A intronic RPS6KA4 NA NA NA intronic ENSG00000162302 NA NA NA NA NA 11q13.1 NA NA Name=2 NA rs2289573 0.1 0.1 0.091 0.0888578 0.1362 0.0873 0.1081 0.0227 0.1176 0.14 0.09 0.12 0.03 0.1651 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519915 NA NA 0.129599 0.046136 NA 0.051 NA 4.569101 1195 9 16775725 16775725 T C intronic BNC2 NA NA NA ncRNA_exonic ENSG00000233551 NA NA NA Score=574;Name=lod=286 NA 9p22.2 NA NA NA NA rs7024466 0.43 0.43 0.408 0.375998 0.7644 0.1438 0.5893 0.149 0.3712 0.77 0.16 0.56 0.13 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139244 NA NA NA NA NA 0.348 NA 4.5689333 1195 6 29977068 29977068 G C ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs2275853 0.05 0.05 0.044 0.0411342 0.0507 0.0357 0.0403 0.0492 0.0266 0.05 0.04 0.04 0.05 0.0471 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917364 NA NA NA NA NA 0.029 NA 4.5688666 1195 6 24653376 24653376 G A exonic TDP2 NA synonymous SNV TDP2:NM_016614:exon6:c.C642T:p.N214N exonic ENSG00000111802 NA synonymous SNV ENSG00000111802:ENST00000341060:exon5:c.C468T:p.N156N,ENSG00000111802:ENST00000378198:exon6:c.C642T:p.N214N,ENSG00000111802:ENST00000545995:exon6:c.C732T:p.N244N NA NA 6p22.3 NA NA Name=6 NA rs1129644 0.79 0.79 0.799 0.805112 0.662 0.8661 0.8372 0.9319 0.6953 0.65 0.86 0.82 0.92 0.7393 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388441 NA NA 0.696744 0.895824 NA 0.681 NA 4.5686226 1195 10 105957613 105957613 G A intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA Name=CEBPB NA NA rs677904 0.46 0.46 0.484 0.505391 0.4314 0.4018 0.3602 0.7005 0.5276 0.43 0.37 0.38 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684669 NA NA NA NA NA 0.406 NA 4.5686 1195 19 58963018 58963018 C G UTR5 ZNF324B NM_207395:c.-2051C>G NA NA UTR5 ENSG00000249471 ENST00000336614:c.-2051C>G,ENST00000545523:c.-2051C>G,ENST00000599194:c.-2051C>G,ENST00000599193:c.-2051C>G,ENST00000598244:c.-2051C>G,ENST00000391696:c.-3324C>G,ENST00000594214:c.-2051C>G NA NA NA NA 19q13.43 NA Name=RFX5_(N-494),HA-E2F1,Sin3Ak-20,Pbx3,c-Fos,Pol2-4H8,USF-1,Nrf1,TBP,IRF1,ZBTB7A_(SC-34508),CCNT2,c-Myc,HEY1,SIX5,Pol2,SP1,Pol2(phosphoS2),TAF1,SREBP1,ETS1,NF-YA,SP2_(SC-643),Znf143_(16618-1-AP),POU2F2,GABP,CHD2_(N-1250),Max,ELF1_(SC-631),NF-YB,Oct-2 NA NA rs893187 0.2 0.2 0.183 0.180711 0.2505 0.2659 0.134 0.0772 0.1943 0.26 0.26 0.16 0.08 0.2334 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475992 NA NA 0.281015 0.098744 NA 0.152 NA 4.5684184 1195 3 9854913 9854913 C A intronic ARPC4-TTLL3,TTLL3 NA NA NA intronic ENSG00000214021,ENSG00000241553,ENSG00000250151 NA NA NA NA NA 3p25.3 NA Name=Pol2-4H8,BCL3 NA NA rs11720113 0.14 0.14 0.131 0.133387 0.1243 0.0486 0.1124 0.2542 0.0818 0.13 0.06 0.13 0.27 0.1472 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638576 NA NA 0.160091 0.222468 NA 0.152 NA 4.568409 1195 6 29976857 29976857 G C ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs9261114 0.05 0.05 0.043 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 0.0479 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601166 NA 0 NA NA NA 0.029 NA 4.5680666 1195 9 140508031 140508031 A G intronic ARRDC1 NA NA NA intronic ENSG00000197070 NA NA NA NA NA 9q34.3 NA NA Name=3 NA rs34249205 0.15 0.15 0.111 0.154353 0.1312 0.0992 0.3775 0.0983 0.1524 0.14 0.09 0.36 0.1 0.1682 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895076 NA NA 0.132907 0.127326 NA 0.181 NA 4.567693 1195 16 632736 632736 T C intronic PIGQ NA NA NA intronic ENSG00000007541 NA NA NA NA NA 16p13.3 NA Name=CTCF NA NA rs3743903 0.52 0.52 0.471 0.529952 0.4324 0.6379 0.4885 0.472 0.6268 0.46 0.63 0.49 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773961 NA NA NA NA NA 0.464 NA 4.5676 1195 16 632767 632767 A G intronic PIGQ NA NA NA intronic ENSG00000007541 NA NA NA NA NA 16p13.3 NA Name=CTCF NA NA rs3743904 0.52 0.52 0.474 0.529752 0.4324 0.6399 0.4885 0.469 0.6278 0.45 0.63 0.49 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480318 NA NA NA NA NA 0.384 NA 4.5676 1195 1 44595426 44595426 G A exonic KLF17 NA synonymous SNV KLF17:NM_173484:exon2:c.G483A:p.S161S exonic ENSG00000171872 NA synonymous SNV ENSG00000171872:ENST00000372299:exon2:c.G483A:p.S161S NA NA 1p34.1 NA NA NA NA rs2429050 0.32 0.32 0.312 0.27516 0.3966 0.4236 0.2579 0.0915 0.2577 0.38 0.44 0.29 0.1 0.3302 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038169 NA NA 0.372412 0.144803 NA 0.283 NA 4.5674546 1195 12 70953456 70953456 T C intronic PTPRB NA NA NA intronic ENSG00000127329 NA NA NA NA NA 12q15 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs2303962 0.17 0.17 0.171 0.199081 0.2147 0.1339 0.1499 0.1808 0.3098 0.22 0.13 0.14 0.19 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04328 NA NA 0.217859 0.167488 NA 0.232 NA 4.567441 1195 19 57901548 57901548 G T intronic ZNF548 NA NA NA intronic ENSG00000188785,ENSG00000268133,ENSG00000269533 NA NA NA NA NA 19q13.43 NA Name=Pol2-4H8,Pol2 NA NA rs12460423 0.21 0.21 0.203 0.219449 0.2346 0.0794 0.1888 0.3782 0.1554 0.23 0.08 0.19 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497883 NA NA 0.198113 0.337681 NA 0.174 NA 4.567287 1195 6 36930687 36930687 G A intronic PI16 NA NA NA intronic ENSG00000164530 NA NA NA NA NA 6p21.2 NA Name=SRF NA NA rs17624006 0.08 0.08 0.071 0.0682907 0.166 0.005 0.1037 0.0166 0.0777 0.16 0.01 0.09 0.01 0.1199 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.344763 1.344763 NA 0.146977 0.044258 NA 0.116 NA 4.567123 1195 18 52942827 52942827 G A intronic TCF4 NA NA NA intronic ENSG00000196628 NA NA NA NA NA 18q21.2 NA Name=CEBPB,p300,JunD,GATA-2 Name=99 NA rs1788027 0.54 0.54 0.576 0.570288 0.4831 0.5635 0.353 0.7504 0.5777 0.47 0.58 0.4 0.73 0.4892 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687905 NA NA 0.461047 0.674762 NA 0.616 NA 4.566653 1195 2 189092447 189092447 G A intergenic TFPI,GULP1 dist=673228;dist=63949 NA NA ncRNA_exonic ENSG00000213115 NA NA NA Score=713;Name=lod=1050 NA 2q32.1 NA NA NA NA rs35686501 0.27 0.27 0.276 0.268171 0.4334 0.0794 0.2637 0.2201 0.3609 0.42 0.09 0.3 0.23 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.878462 NA NA NA NA NA 0.341 NA 4.5666 1195 7 150444233 150444233 T C intergenic GIMAP1-GIMAP5,TMEM176B dist=3496;dist=44143 NA NA ncRNA_exonic ENSG00000177590 NA NA NA Score=251;Name=lod=14 NA 7q36.1 NA NA NA NA rs6972271 0.51 0.51 0.488 0.539736 0.4334 0.3671 0.4078 0.8321 0.5256 0.44 0.38 0.43 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748071 NA NA NA NA NA 0.609 NA 4.5666 1195 11 118851138 118851138 C T intronic FOXR1 NA NA NA intronic ENSG00000176302 NA NA NA NA NA 11q23.3 NA Name=USF2,TAF1,E2F6,PU.1,Max,ELF1_(SC-631),c-Myc,HEY1,TBP,USF-1 NA NA rs4456264 0.38 0.38 0.367 0.398363 0.4334 0.1171 0.5965 0.469 0.4162 0.42 0.11 0.57 0.48 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367002 NA NA NA NA NA 0.449 NA 4.5666 1195 15 20555515 20555515 G T intergenic CHEK2P2,HERC2P3 dist=58704;dist=58135 NA NA ncRNA_intronic ENSG00000258654 NA NA NA NA NA 15q11.1 NA NA Name=2 NA rs12594295 NA NA 0.337 0.41873 0.4334 0.4157 0.3775 0.4244 0.4284 NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670431 NA NA NA NA NA 0.37 NA 4.5666 1195 1 94343023 94343023 A G exonic DNTTIP2 NA synonymous SNV DNTTIP2:NM_014597:exon2:c.T468C:p.P156P exonic ENSG00000067334 NA synonymous SNV ENSG00000067334:ENST00000359208:exon2:c.T468C:p.P156P,ENSG00000067334:ENST00000436063:exon2:c.T468C:p.P156P NA NA 1p22.1 NA NA NA NA rs2391322 0.41 0.41 0.408 0.436901 0.3499 0.5585 0.3718 0.3782 0.5266 0.35 0.57 0.37 0.34 0.3931 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.375345 NA NA 0.35723 0.380524 NA 0.5 NA 4.5664366 1195 2 86712820 86712820 A T intronic KDM3A NA NA NA intronic ENSG00000115548 NA NA NA NA NA 2p11.2 NA Name=FOXA1_(C-20) NA NA rs72932311 0.14 0.14 0.142 0.132188 0.1392 NA 0.0865 0.3328 0.0225 0.14 NA 0.09 0.34 0.1316 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143001 NA NA 0.162907 0.308443 NA 0.196 NA 4.566293 1195 22 31529463 31529463 C A exonic INPP5J NA synonymous SNV INPP5J:NM_001002837:exon11:c.C1299A:p.T433T exonic ENSG00000185133 NA synonymous SNV ENSG00000185133:ENST00000401755:exon4:c.C498A:p.T166T,ENSG00000185133:ENST00000404453:exon5:c.C498A:p.T166T,ENSG00000185133:ENST00000331075:exon11:c.C2403A:p.T801T,ENSG00000185133:ENST00000404390:exon11:c.C1299A:p.T433T,ENSG00000185133:ENST00000400294:exon12:c.C1302A:p.T434T,ENSG00000185133:ENST00000412277:exon12:c.C2202A:p.T734T,ENSG00000185133:ENST00000405300:exon13:c.C1302A:p.T434T NA NA 22q12.2 NA NA NA NA rs35342535 0.23 0.23 0.236 0.259784 0.3877 0.0208 0.281 0.1906 0.453 0.37 0.01 0.31 0.22 0.3261 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387396 NA NA 0.386697 0.211353 NA 0.239 NA 4.5661696 1195 10 24833137 24833137 C T exonic KIAA1217 NA synonymous SNV KIAA1217:NM_019590:exon19:c.C4938T:p.I1646I exonic ENSG00000120549 NA synonymous SNV ENSG00000120549:ENST00000376451:exon14:c.C3987T:p.I1329I,ENSG00000120549:ENST00000376454:exon19:c.C4938T:p.I1646I NA NA 10p12.1 NA NA NA NA rs2250411 0.27 0.27 0.254 0.261182 0.3956 0.1419 0.3141 0.2542 0.2178 0.4 0.12 0.34 0.21 0.3214 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.624588 NA NA 0.383721 0.275306 NA 0.188 NA 4.5659456 1195 1 11129848 11129848 A G intronic EXOSC10 NA NA NA ncRNA_intronic ENSG00000226849 NA NA NA NA NA 1p36.22 NA NA Name=5 NA rs2791653 0.73 0.73 0.683 0.726438 0.7674 0.9415 0.8314 0.3699 0.8701 0.77 0.93 0.82 0.38 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012367 NA NA NA NA NA 0.725 NA 4.5659333 1195 19 43439739 43439739 T C exonic PSG7 NA unknown UNKNOWN exonic ENSG00000221878 NA unknown UNKNOWN NA NA 19q13.31 NA NA NA NA rs58684857 0.15 0.15 0.129 0.13738 0.1431 0.0109 0.2277 0.1906 0.1258 0.15 0.01 0.22 0.24 0.1442 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.002379 NA NA 0.147093 0.214675 NA 0.196 NA 4.565607 1195 6 133135807 133135807 C T intronic RPS12 NA NA NA intronic ENSG00000112306 NA NA NA NA NA 6q23.2 NA Name=p300_(N-15),GTF2B,TBP,GTF2F1_(RAP-74),c-Myc,NFKB,BCL3,ZEB1_(SC-25388),HEY1,ELF1_(SC-631),PAX5-N19,HNF4G_(SC-6558),PAX5-C20,Oct-2,NRSF,Pol2,NELFe,MEF2C_(SC-13268),Egr-1,YY1,Pol2(phosphoS2),BCL11A,BCLAF1_(M33-P5B11),TAF7_(SQ-8),Sin3Ak-20,YY1_(C-20),Pol2-4H8,ETS1,Pol2(b),GATA-1,TAF1,POU2F2,ZBTB33 NA NA rs9493450 0.51 0.51 0.531 0.548722 0.4344 0.3125 0.634 0.7791 0.5378 0.43 0.31 0.64 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062886 NA NA NA NA NA 0.493 NA 4.5656 1195 11 293188 293188 T C exonic ATHL1 NA synonymous SNV ATHL1:NM_025092:exon8:c.T1296C:p.H432H exonic ENSG00000142102 NA synonymous SNV ENSG00000142102:ENST00000409479:exon7:c.T1377C:p.H459H,ENSG00000142102:ENST00000409548:exon8:c.T1296C:p.H432H,ENSG00000142102:ENST00000409655:exon8:c.T765C:p.H255H NA NA 11p15.5 NA NA NA NA rs12801980 0.37 0.37 0.368 0.400759 0.3668 0.3998 0.3718 0.3585 0.5143 0.37 0.42 0.38 0.32 0.3893 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.27669 NA NA 0.345233 0.325465 NA 0.304 NA 4.5653336 1195 19 55221819 55221819 A G ncRNA_exonic LILRP2 NA NA NA ncRNA_intronic ENSG00000170858,ENSG00000240258 NA NA NA NA NA 19q13.42 NA NA NA NA rs45581836 0.1 0.1 0.039 0.119409 0.1014 0.1567 0.1455 0.1067 0.0982 0.09 0.11 0.11 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120052 NA NA NA NA NA 0.036 NA 4.5652666 1195 1 40097136 40097136 T C intronic HEYL NA NA NA intronic ENSG00000163909 NA NA NA NA NA 1p34.3 NA NA Name=8 NA rs11206504 0.13 0.13 0.101 0.0992412 0.1441 0.1706 0.1441 0.0197 0.0552 0.16 0.18 0.13 0.02 0.1345 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069911 NA NA 0.156279 0.047435 NA 0.138 NA 4.565121 1195 20 61296268 61296268 A G ncRNA_intronic LOC100127888 NA NA NA ncRNA_intronic ENSG00000232803 NA NA NA NA NA 20q13.33 NA NA NA NA rs2277774 0.04 0.04 0.025 0.0353435 0.0537 0.0724 0.0317 0.0053 0.0215 0.06 0.08 0.03 0.0041 0.0005 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205511 NA NA 0.047442 0.012256 NA 0.022 NA 4.5650246 1196 3 1262474 1262474 T C exonic CNTN6 NA synonymous SNV CNTN6:NM_014461:exon3:c.T159C:p.N53N exonic ENSG00000134115 NA synonymous SNV ENSG00000134115:ENST00000350110:exon3:c.T159C:p.N53N,ENSG00000134115:ENST00000446702:exon3:c.T159C:p.N53N NA NA 3p26.3 NA NA NA NA rs2013828 0.43 0.43 0.429 0.470048 0.3419 0.5119 0.4813 0.466 0.5562 0.35 0.49 0.46 0.48 0.4082 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054495 NA NA 0.351628 0.439855 NA 0.428 NA 4.5649386 1196 22 45789743 45789743 T G intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA Name=CTCF NA NA rs136604 0.12 0.12 0.112 0.154952 0.1243 0.1667 0.1398 0.1006 0.2587 0.11 0.14 0.14 0.09 0.1917 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.468938 2.468938 NA 0.119165 0.09516 NA 0.268 NA 4.564835 1196 2 44209477 44209477 C T exonic LRPPRC NA synonymous SNV LRPPRC:NM_133259:exon2:c.G246A:p.Q82Q exonic ENSG00000138095 NA synonymous SNV ENSG00000138095:ENST00000260665:exon2:c.G246A:p.Q82Q,ENSG00000138095:ENST00000409659:exon2:c.G246A:p.Q82Q,ENSG00000138095:ENST00000409946:exon2:c.G246A:p.Q82Q,ENSG00000138095:ENST00000447246:exon2:c.G168A:p.Q56Q NA NA 2p21 NA NA NA NA rs6741066 0.52 0.52 0.498 0.503994 0.7416 0.0367 0.5548 0.68 0.4673 0.75 0.04 0.62 0.65 0.624 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033734 NA NA 0.736334 0.700862 ID=COSM1408165;OCCURENCE=1(large_intestine) 0.601 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117556.2;CLNDSDB=.;CLNDSDBID=. 4.5647326 1196 14 52229904 52229904 C T intergenic FRMD6,GNG2 dist=32460;dist=97118 NA NA ncRNA_exonic ENSG00000258550 NA NA NA Score=439;Name=lod=81 NA 14q22.1 NA NA NA NA rs57839902 0.46 0.46 0.478 0.4373 0.4354 0.5694 0.4899 0.3585 0.3722 0.41 0.61 0.48 0.36 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389876 NA NA NA NA NA 0.341 NA 4.5646 1196 1 21935433 21935433 G T intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=eGFP-JunD,NRSF,PU.1,TAL1_(SC-12984),MafF_(M8194),Pol2(b),MafK_(SC-477),IRF1,MafK_(ab50322) Name=3 NA rs861212 0.47 0.47 0.441 0.454673 0.4533 0.6518 0.5101 0.2209 0.5297 0.46 0.68 0.5 0.22 0.4894 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.655214 1.655214 NA 0.493023 0.263504 NA 0.362 NA 4.564277 1196 17 76481180 76481180 G A ncRNA_exonic LOC100996295 NA NA NA ncRNA_exonic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA rs74001373 0.1 0.1 0.088 0.0944489 0.1024 0.1577 0.0677 0.062 0.0838 0.1 0.15 0.07 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122952 NA NA NA NA NA 0.08 NA 4.5642666 1196 19 56694505 56694505 C T exonic GALP NA synonymous SNV GALP:NM_033106:exon5:c.C219T:p.D73D exonic ENSG00000197487 NA synonymous SNV ENSG00000197487:ENST00000357330:exon5:c.C219T:p.D73D NA NA 19q13.43 NA NA NA NA rs575756 0.32 0.32 0.305 0.314497 0.3529 0.3383 0.3617 0.1369 0.4571 0.35 0.36 0.39 0.16 0.3677 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213282 NA NA 0.382209 0.184067 NA 0.377 NA 4.5638576 1196 7 100482526 100482526 C G intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=Pol2-4H8,Pol2 Name=5 NA rs6942607 0.48 0.48 0.433 0.463059 0.4612 0.8065 0.5865 0.0983 0.5164 0.46 0.81 0.54 0.1 0.5003 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.10088 NA NA 0.474884 0.182932 NA 0.37 NA 4.563616 1196 13 81193993 81193993 C G intergenic SPRY2,NONE dist=278907;dist=NONE NA NA ncRNA_exonic ENSG00000227862 NA NA NA Score=272;Name=lod=17 NA 13q31.1 NA NA NA NA rs3813531 0.5 0.5 0.493 0.51877 0.4364 0.5704 0.5634 0.5038 0.5389 0.44 0.55 0.56 0.48 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03284 NA NA NA NA NA 0.341 NA 4.5636 1196 17 7806529 7806529 A G intronic CHD3 NA NA NA intronic ENSG00000170004 NA NA NA NA NA 17p13.1 NA Name=KAP1 NA NA rs7222046 0.7 0.7 0.679 0.750799 0.4364 0.999 0.696 0.8222 0.7607 0.43 1 0.62 0.81 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575876 NA NA NA NA NA 0.623 NA 4.5636 1196 7 100486088 100486088 C T intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=HEY1,Pol2 Name=2 NA rs3087504 0.48 0.48 0.451 0.46266 0.4612 0.8056 0.5865 0.0976 0.5164 0.46 0.81 0.54 0.1 0.5007 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751239 NA NA 0.475 0.18384 NA 0.362 NA 4.5631 1196 2 20026319 20026319 G A intergenic OSR1,FLJ12334 dist=467947;dist=42296 NA NA ncRNA_exonic ENSG00000213403 NA NA NA Score=467;Name=lod=105 NA 2p24.1 NA NA NA NA rs10191506 0.68 0.68 0.687 0.72504 0.4374 0.9256 0.6239 0.8623 0.7004 0.45 0.93 0.58 0.83 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.615676 NA NA NA NA NA 0.638 NA 4.5626 1196 17 48313353 48313353 T C intergenic COL1A1,TMEM92 dist=34353;dist=35414 NA NA ncRNA_exonic ENSG00000249838 NA NA NA Score=676;Name=lod=745 NA 17q21.33 NA NA NA NA rs2696298 0.58 0.58 0.586 0.629792 0.4374 0.6468 0.4524 0.8896 0.5849 0.41 0.63 0.46 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837749 NA NA NA NA NA 0.601 NA 4.5626 1196 17 63997069 63997069 A G intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA Score=654;Name=lod=609 NA 17q24.1 NA NA NA NA rs12451575 0.54 0.54 0.475 0.536342 0.4374 0.875 0.6585 0.2322 0.6135 0.44 0.87 0.63 0.24 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338721 NA NA NA NA NA 0.478 NA 4.5626 1196 17 63997184 63997184 C G intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA Score=577;Name=lod=294 NA 17q24.1 NA NA NA NA rs2160670 0.54 0.54 0.489 0.536342 0.4374 0.875 0.6585 0.2322 0.6135 0.44 0.87 0.63 0.24 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223433 NA NA NA NA NA 0.478 NA 4.5626 1196 18 48685468 48685468 G A intergenic SMAD4,MEX3C dist=74057;dist=15452 NA NA ncRNA_exonic ENSG00000267717 NA NA NA Score=642;Name=lod=543 NA 18q21.2 NA NA NA NA rs10502915 0.31 0.31 0.281 0.289936 0.4374 0.2232 0.3573 0.1452 0.3548 0.44 0.23 0.39 0.15 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.286749 1.286749 NA NA NA NA 0.319 NA 4.5626 1196 14 70714091 70714091 C T ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs117006186 0.05 0.05 0.036 0.0325479 0.1044 NA 0.0375 0.0061 0.0245 0.1 NA 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028715 NA NA NA NA NA 0.022 NA 4.5622666 1196 12 123200247 123200247 G C exonic HCAR3 NA nonsynonymous SNV HCAR3:NM_006018:exon1:c.C1038G:p.I346M exonic ENSG00000255398 NA nonsynonymous SNV ENSG00000255398:ENST00000528880:exon1:c.C1038G:p.I346M NA NA 12q24.31 NA NA NA NA rs1696351 0.82 0.82 0.9 0.895966 0.9324 0.8393 0.9481 0.9894 0.7536 0.81 0.74 0.89 0.86 0.9125 0.98 0.58 T 0.0 B 0.0 B . . 1.000 P . . 0.03 T -0.992 T 0.000 T 0.027 0.323 5.754 -0.682 -0.210 -0.387 8.700 0.323462 NA NA 0.926477 0.977293 ID=COSM147628;OCCURENCE=1(stomach) 0.913 NA 4.5619564 1196 11 66833265 66833265 G A intronic RHOD NA NA NA intronic ENSG00000173156 NA NA NA NA NA 11q13.2 NA NA Name=3 NA rs12803688 0.56 0.56 0.552 0.604832 0.4384 0.5893 0.6354 0.7421 0.5849 0.43 0.59 0.59 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638676 NA NA NA NA NA 0.594 NA 4.5616 1196 3 9990741 9990741 C T ncRNA_intronic PRRT3-AS1 NA NA NA ncRNA_intronic ENSG00000230082 NA NA NA NA NA 3p25.3 NA NA NA NA rs115898811 0.02 0.02 0.012 0.0177716 0.0358 NA 0.0461 0.0008 0.0204 0.04 NA 0.04 NA 0.0323 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787313 NA NA 0.037509 0.007948 NA 0.007 NA 4.5610576 1196 4 40788544 40788544 A G intronic NSUN7 NA NA NA ncRNA_exonic ENSG00000248780 NA NA NA Score=755;Name=lod=1557 NA 4p14 NA NA NA NA rs2953325 0.71 0.71 0.704 0.728634 0.7724 0.5208 0.8804 0.8714 0.5971 0.74 0.49 0.82 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0678 NA NA NA NA NA 0.688 NA 4.5609333 1196 6 33660695 33660695 G C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA Name=ELF1_(SC-631),EBF1_(C-8) Name=51 NA rs3818524 0.49 0.49 0.431 0.511182 0.4712 0.8452 0.5735 0.0998 0.7198 0.47 0.8 0.56 0.12 0.5293 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212395 NA NA 0.438605 0.182025 NA 0.464 NA 4.560895 1196 11 64942416 64942416 G T intergenic SPDYC,CAPN1 dist=1728;dist=6270 NA NA ncRNA_exonic ENSG00000255200 NA NA NA NA NA 11q13.1 NA Name=YY1,c-Myc NA NA rs11227144 NA NA 0.342 0.405152 0.4394 0.5149 0.487 0.2859 0.3599 NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319581 NA NA NA NA NA 0.5 NA 4.5606 1196 17 39605580 39605580 C T intergenic KRT38,KRT32 dist=7984;dist=10185 NA NA ncRNA_exonic ENSG00000236473 NA NA NA Score=401;Name=lod=57 NA 17q21.2 NA NA NA NA rs7221098 0.45 0.45 0.437 0.420527 0.4394 0.5248 0.5634 0.3147 0.3354 0.44 0.54 0.49 0.33 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196745 NA NA NA NA NA 0.442 NA 4.5606 1196 8 27695981 27695981 C G upstream PBK NA NA NA upstream ENSG00000168078,ENSG00000253176 NA NA NA NA NA 8p21.1 NA Name=Pol2 NA NA rs3808365 0.2 0.2 0.178 0.222444 0.1064 0.3601 0.1095 0.2821 0.1994 0.09 0.35 0.12 0.25 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439801 NA NA NA NA NA 0.232 NA 4.5602666 1196 4 15552423 15552423 C T intronic CC2D2A NA NA NA intronic ENSG00000048342 NA NA NA NA NA 4p15.32 NA NA NA NA rs2041673 0.11 0.11 0.111 0.111422 0.1561 0.0337 0.0879 0.1286 0.1391 0.14 0.03 0.11 0.16 0.1393 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.342938 2.342938 NA 0.144632 0.126931 NA 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114168.2;CLNDSDB=.;CLNDSDBID=. 4.559968 1196 1 179320665 179320665 A G intronic SOAT1 NA NA NA intronic ENSG00000057252 NA NA NA NA NA 1q25.2 NA NA Name=9 NA rs13306732 0.38 0.38 0.345 0.369209 0.4404 0.4097 0.3674 0.2126 0.4673 0.42 0.44 0.4 0.23 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225603 NA NA NA NA NA 0.413 NA 4.5596 1196 17 20384920 20384920 G A intergenic LGALS9B,KRT16P3 dist=14072;dist=19907 NA NA ncRNA_exonic ENSG00000229586 NA NA NA Score=699;Name=lod=921 NA 17p11.2 NA NA NA NA rs1682297 0.27 0.27 0.231 0.224042 0.4404 0.13 0.3429 0.0915 0.1933 0.41 0.14 0.37 0.11 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038551 NA NA NA NA NA 0.188 NA 4.5596 1196 13 19999890 19999890 G A intronic TPTE2 NA NA NA exonic ENSG00000132958 NA synonymous SNV ENSG00000132958:ENST00000462409:exon14:c.C993T:p.S331S NA NA 13q12.11 NA NA NA NA rs2497211 0.2 0.2 NA 0.223043 0.1372 0.0655 0.1369 0.5484 0.0951 0.11 0.04 0.15 0.54 0.1367 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243419 NA NA NA NA NA 0.022 NA 4.5594333 1196 9 119187839 119187839 C T UTR3 ASTN2 NM_198187:c.*30G>A,NM_198186:c.*291G>A,NM_001184734:c.*56G>A,NM_198188:c.*30G>A,NM_014010:c.*291G>A NA NA UTR3 ENSG00000148219 ENST00000373996:c.*291G>A,ENST00000313400:c.*291G>A,ENST00000361209:c.*291G>A,ENST00000373986:c.*291G>A,ENST00000341734:c.*30G>A,ENST00000288520:c.*291G>A NA NA NA NA 9q33.1 NA Name=ELF1_(SC-631) NA NA rs7518 0.22 0.22 0.236 0.200479 0.2773 0.1806 0.2046 0.1884 0.1554 0.28 0.19 0.19 0.2 0.2329 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009374 NA NA 0.263795 0.198715 NA 0.217 NA 4.5593384 1196 6 33143948 33143948 C G intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA NA Name=LDL cholesterol 6p21.32 NA NA NA NA rs2254287 0.54 0.54 0.524 0.547724 0.4414 0.7192 0.513 0.5265 0.5337 0.44 0.7 0.55 0.51 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292878 NA NA NA NA NA 0.543 NA 4.5586 1196 16 8558352 8558352 T C intergenic RBFOX1,TMEM114 dist=795012;dist=61150 NA NA ncRNA_exonic ENSG00000260379 NA NA NA Score=648;Name=lod=571 NA 16p13.2 NA NA NA NA rs11860880 0.55 0.55 0.55 0.583866 0.4414 0.6062 0.5692 0.6445 0.636 0.45 0.62 0.55 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276647 NA NA NA NA NA 0.457 NA 4.5586 1196 2 64574682 64574682 G A intergenic LINC00309,LGALSL dist=142063;dist=106645 NA NA ncRNA_exonic ENSG00000236148 NA NA NA Score=730;Name=lod=1239 NA 2p14 NA NA NA NA rs2059631 0.6 0.6 0.604 0.636382 0.4423 0.9395 0.5634 0.5522 0.6892 0.44 0.92 0.52 0.55 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405629 NA NA NA NA NA 0.645 NA 4.5577 1196 11 120707644 120707644 C T intronic GRIK4 NA NA NA intronic ENSG00000149403 NA NA NA NA NA 11q23.3 NA NA Name=2 NA rs3934628 0.37 0.37 0.369 0.338259 0.4423 0.4613 0.3112 0.149 0.3793 0.44 0.47 0.35 0.16 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303562 NA NA NA NA NA 0.362 NA 4.5577 1196 16 29994736 29994736 T A intronic TAOK2 NA NA NA intronic ENSG00000149930 NA NA NA NA NA 16p11.2 NA Name=ZNF263 NA NA rs3814884 0.34 0.34 0.315 0.34984 0.4423 0.375 0.3141 0.1596 0.5112 0.44 0.36 0.34 0.16 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142081 NA NA NA NA NA 0.362 NA 4.5577 1196 16 50106594 50106594 T C exonic HEATR3 NA synonymous SNV HEATR3:NM_182922:exon5:c.T591C:p.F197F exonic ENSG00000155393 NA synonymous SNV ENSG00000155393:ENST00000285767:exon4:c.T333C:p.F111F,ENSG00000155393:ENST00000299192:exon5:c.T591C:p.F197F Score=676;Name=lod=746 NA 16q12.1 NA NA NA NA rs2287197 0.6 0.6 0.554 0.599441 0.7097 0.6429 0.7176 0.3298 0.7219 0.72 0.62 0.71 0.33 0.6872 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241512 1.241512 NA 0.712093 0.385578 NA 0.587 NA 4.5576736 1196 12 41961535 41961535 A G intronic PDZRN4 NA NA NA intronic ENSG00000165966 NA NA NA Score=667;Name=lod=686 NA 12q12 NA NA NA NA rs12310084 0.19 0.19 0.197 0.231829 0.1382 0.1845 0.1427 0.3366 0.2986 0.14 0.18 0.12 0.33 0.1692 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.147958 2.147958 NA 0.135465 0.299046 NA 0.225 NA 4.557135 1196 4 42032009 42032009 T C intronic SLC30A9 NA NA NA ncRNA_exonic ENSG00000249212 NA NA NA Score=606;Name=lod=387 NA 4p13 NA NA NA NA rs4861154 0.71 0.71 0.66 0.667133 0.7763 0.9583 0.804 0.1884 0.8047 0.79 0.96 0.79 0.22 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217188 NA NA NA NA NA 0.558 NA 4.5570333 1196 10 81058027 81058027 A G intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA Name=Celiac disease 10q22.3 NA NA NA NA rs1250552 0.58 0.58 0.584 0.615615 0.4433 0.7004 0.464 0.7738 0.5992 0.43 0.74 0.48 0.7 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315152 NA NA NA NA NA 0.478 NA 4.5567 1196 17 3776555 3776555 T C intronic CAMKK1 NA NA NA intronic ENSG00000004660 NA NA NA NA NA 17p13.2 NA Name=ZNF263 NA NA rs34231122 0.48 0.48 0.486 0.461661 0.4433 0.4147 0.3818 0.6725 0.3006 0.46 0.43 0.4 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083662 NA NA NA NA NA 0.486 NA 4.5567 1196 17 28862034 28862034 G A intergenic GOSR1,TBC1D29 dist=8202;dist=24550 NA NA ncRNA_intronic ENSG00000264958 NA NA NA NA NA 17q11.2 NA Name=ZNF263 NA NA rs141108 0.5 0.5 0.501 0.496605 0.4433 0.8244 0.4424 0.3086 0.5061 0.45 0.8 0.43 0.3 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438174 NA NA NA NA NA 0.536 NA 4.5567 1196 13 50465577 50465577 A G ncRNA_exonic CTAGE10P NA NA NA ncRNA_exonic ENSG00000181358 NA NA NA NA NA 13q14.2 NA NA NA NA rs75540113 0.05 0.05 0.048 0.0858626 0.0507 0.0903 0.0418 0.0454 0.2035 0.04 0.08 0.06 0.04 0.0596 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08888 NA NA NA NA NA 0.065 NA 4.5563666 1196 1 158165578 158165578 G A intergenic CD1D,CD1A dist=9362;dist=58349 NA NA ncRNA_exonic ENSG00000229914 NA NA NA Score=734;Name=lod=1279 NA 1q23.1 NA NA NA NA rs1633127 0.45 0.45 0.423 0.472244 0.4443 0.6071 0.3213 0.3185 0.6769 0.46 0.57 0.37 0.34 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.889048 2.889048 NA NA NA NA 0.486 NA 4.5557 1196 1 158165601 158165601 T C intergenic CD1D,CD1A dist=9385;dist=58326 NA NA ncRNA_exonic ENSG00000229914 NA NA NA Score=734;Name=lod=1279 NA 1q23.1 NA NA NA NA rs1633128 0.45 0.45 0.421 0.472244 0.4443 0.6071 0.3213 0.3185 0.6769 0.46 0.57 0.37 0.34 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596757 NA NA NA NA NA 0.486 NA 4.5557 1196 1 158165722 158165722 G A intergenic CD1D,CD1A dist=9506;dist=58205 NA NA ncRNA_exonic ENSG00000229914 NA NA NA Score=734;Name=lod=1279 NA 1q23.1 NA NA NA NA rs1633129 0.45 0.45 0.422 0.472244 0.4443 0.6071 0.3213 0.3185 0.6769 0.46 0.57 0.37 0.34 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441547 NA NA NA NA NA 0.486 NA 4.5557 1196 1 158165742 158165742 A T intergenic CD1D,CD1A dist=9526;dist=58185 NA NA ncRNA_exonic ENSG00000229914 NA NA NA Score=734;Name=lod=1279 NA 1q23.1 NA NA NA NA rs1633130 0.45 0.45 0.428 0.472244 0.4443 0.6071 0.3213 0.3185 0.6769 0.46 0.57 0.37 0.34 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.385135 1.385135 NA NA NA NA 0.486 NA 4.5557 1196 10 5174794 5174794 C T intergenic AKR1C3,AKR1CL1 dist=24916;dist=21861 NA NA ncRNA_exonic ENSG00000225418 NA NA NA Score=456;Name=lod=95 NA 10p15.1 NA NA NA NA rs11252990 0.29 0.29 0.291 0.271565 0.4443 0.001 0.2622 0.4244 0.1728 0.43 0.0017 0.3 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255725 NA NA NA NA NA 0.341 NA 4.5557 1196 11 79700145 79700145 A G intergenic TENM4,MIR4300 dist=548450;dist=1901638 NA NA ncRNA_exonic ENSG00000254471 NA NA NA Score=333;Name=lod=30 NA 11q14.1 NA NA NA NA rs585747 0.55 0.55 0.551 0.53774 0.4443 0.6647 0.3329 0.677 0.4601 0.45 0.68 0.36 0.67 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32307 NA NA NA NA NA 0.384 NA 4.5557 1196 19 10402131 10402131 T C intronic ICAM5 NA NA NA intronic ENSG00000105376 NA NA NA NA NA 19p13.2 NA Name=IRF1,TBP,ZNF263,TAF1,Mxi1_(bHLH),Pol2 Name=93 NA rs901886 0.37 0.37 0.336 0.374002 0.5229 0.3165 0.5749 0.093 0.5174 0.52 0.33 0.54 0.08 0.4739 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194973 NA NA 0.447652 0.140133 NA 0.341 NA 4.555548 1196 19 41386366 41386366 T G intronic CYP2A7 NA NA NA intronic ENSG00000198077,ENSG00000268797 NA NA NA NA NA 19q13.2 NA Name=Rad21,CTCF_(SC-5916) NA NA rs3815706 0.14 0.14 0.124 0.114217 0.1451 0.1796 0.0821 0.0802 0.0838 0.15 0.19 0.09 0.1 0.1409 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509482 NA NA 0.158721 0.091466 NA 0.109 NA 4.555279 1196 6 152784054 152784054 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA Name=14 NA rs7775181 0.23 0.23 0.244 0.248802 0.1511 0.4286 0.1124 0.3041 0.1861 0.15 0.4 0.1 0.26 0.1631 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766875 NA NA 0.130698 0.272583 NA 0.275 NA 4.555102 1197 5 37318295 37318295 G T intronic NUP155 NA NA NA intronic ENSG00000113569 NA NA NA NA NA 5p13.2 NA NA Name=2 NA rs217797 0.55 0.55 0.551 0.60603 0.4453 0.4851 0.5288 0.9039 0.5481 0.44 0.44 0.53 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043156 NA NA NA NA NA 0.594 NA 4.5547 1197 9 102820002 102820002 T C intronic ERP44 NA NA NA intronic ENSG00000023318 NA NA NA NA NA 9q31.1 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs942163 0.56 0.56 0.54 0.580871 0.4453 0.8671 0.6671 0.2912 0.7556 0.44 0.89 0.64 0.32 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520947 1.520947 NA NA NA NA 0.543 NA 4.5547 1197 9 116091342 116091342 T C intronic WDR31 NA NA NA intronic ENSG00000148225 NA NA NA NA NA 9q32 NA Name=USF-1 NA NA rs3810921 0.39 0.39 0.401 0.408946 0.4453 0.0833 0.2911 0.6399 0.4785 0.46 0.07 0.31 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651721 NA NA NA NA NA 0.457 NA 4.5547 1197 10 95641393 95641393 G A intergenic LGI1,SLC35G1 dist=83477;dist=12337 NA NA ncRNA_exonic ENSG00000227995 NA NA NA Score=681;Name=lod=783 NA 10q23.33 NA NA NA NA rs4917958 0.55 0.55 0.493 0.521965 0.4453 0.8671 0.5029 0.2814 0.5838 0.47 0.87 0.52 0.3 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511677 NA NA NA NA NA 0.442 NA 4.5547 1197 10 95641485 95641485 C T intergenic LGI1,SLC35G1 dist=83569;dist=12245 NA NA ncRNA_exonic ENSG00000227995 NA NA NA Score=651;Name=lod=590 NA 10q23.33 NA NA NA NA rs7905161 0.56 0.56 0.515 0.540535 0.4453 0.8671 0.5101 0.348 0.5838 0.47 0.87 0.53 0.36 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17581 NA NA NA NA NA 0.442 NA 4.5547 1197 6 32427604 32427604 G C intergenic HLA-DRA,HLA-DRB5 dist=14778;dist=57550 NA NA ncRNA_exonic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=HA-E2F1 NA NA rs13207140 0.12 0.12 0.099 0.121406 0.1779 0.0526 0.1138 0.0991 0.1697 0.18 0.05 0.12 0.11 0.1261 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62542 NA NA 0.141386 0.097032 NA 0.116 NA 4.554614 1197 6 32427899 32427899 G A intergenic HLA-DRA,HLA-DRB5 dist=15073;dist=57255 NA NA ncRNA_intronic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=c-Myc,HA-E2F1,Pol2 NA NA rs17209119 0.12 0.12 0.094 0.121006 0.1789 0.0526 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 0.1253 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520193 NA NA 0.141386 0.09532 NA 0.13 NA 4.554414 1197 12 104067897 104067897 G A intronic STAB2 NA NA NA intronic ENSG00000136011 NA NA NA NA NA 12q23.3 NA Name=HNF4A_(H-171) NA NA rs703644 0.15 0.15 0.139 0.13758 0.1441 0.2063 0.1931 0.0711 0.1104 0.14 0.24 0.17 0.07 0.1532 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723003 NA NA 0.148372 0.088516 NA 0.08 NA 4.554328 1197 6 32427894 32427894 T C intergenic HLA-DRA,HLA-DRB5 dist=15068;dist=57260 NA NA ncRNA_intronic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=Pol2,HA-E2F1,c-Myc NA NA rs17209112 0.12 0.12 0.088 0.121006 0.1789 0.0526 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 0.1254 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831231 NA NA 0.141386 0.09532 NA 0.13 NA 4.554314 1197 19 48389363 48389363 G A intronic SULT2A1 NA NA NA intronic ENSG00000105398 NA NA NA NA NA 19q13.33 NA Name=KAP1 NA NA rs296361 0.07 0.07 0.071 0.0632987 0.161 0.004 0.062 0.003 0.1063 0.17 0.0017 0.07 0.01 0.1276 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159901 NA NA 0.157791 0.027009 NA 0.159 NA 4.553609 1197 3 10353550 10353550 T C intronic SEC13 NA NA NA intronic ENSG00000157020 NA NA NA NA NA 3p25.3 NA Name=Pol2 NA NA rs35670 0.18 0.18 0.204 0.182308 0.2296 0.0069 0.2262 0.2716 0.1626 0.22 0.0017 0.22 0.32 0.2173 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322041 NA NA NA NA NA 0.348 NA 4.5531 1197 14 25288513 25288513 C T intronic STXBP6 NA NA NA exonic ENSG00000168952 NA synonymous SNV ENSG00000168952:ENST00000548369:exon1:c.G33A:p.A11A NA NA 14q12 NA NA NA NA rs872978 0.19 0.19 0.213 0.207069 0.0964 0.1766 0.0677 0.472 0.093 0.1 0.17 0.06 0.43 0.1839 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112186 NA NA NA NA NA 0.145 NA 4.5530333 1197 11 65480768 65480768 A G intronic KAT5 NA NA NA intronic ENSG00000172977 NA NA NA Score=736;Name=lod=1308 NA 11q13.1 Score=953;Name=V$GATA2_01 NA NA NA rs4244812 0.52 0.52 0.45 0.498602 0.4801 0.6131 0.6095 0.4614 0.3712 0.47 0.6 0.57 0.46 0.4968 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719715 1.719715 NA 0.470205 0.464286 NA 0.457 NA 4.552895 1197 19 44284648 44284648 T C intronic KCNN4 NA NA NA intronic ENSG00000104783 NA NA NA NA NA 19q13.31 NA Name=ZNF263 NA NA rs112533386 NA NA 0.334 0.472045 0.4473 0.4633 0.438 0.3752 0.6616 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369364 NA NA NA NA NA 0.022 NA 4.5527 1197 4 141598290 141598290 A G intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA Score=251;Name=lod=14 NA 4q31.21 NA NA NA NA rs2303912 0.12 0.12 0.113 0.100639 0.1581 0.0853 0.072 0.0998 0.0787 0.16 0.1 0.1 0.09 0.1387 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.740808 1.740808 NA 0.150828 0.1161 NA 0.087 NA 4.552372 1197 2 128367092 128367092 G A exonic MYO7B NA synonymous SNV MYO7B:NM_001080527:exon23:c.G2826A:p.S942S exonic ENSG00000169994 NA synonymous SNV ENSG00000169994:ENST00000409816:exon22:c.G2826A:p.S942S,ENSG00000169994:ENST00000389524:exon23:c.G2826A:p.S942S,ENSG00000169994:ENST00000428314:exon23:c.G2826A:p.S942S NA NA 2q14.3 NA NA NA NA rs777432 0.29 0.29 0.298 0.321086 0.3857 0.1319 0.2478 0.3661 0.4407 0.37 0.14 0.28 0.34 0.3741 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.117994 NA NA 0.354704 0.339347 ID=COSM1399256,COSM1399257;OCCURENCE=1(large_intestine) 0.333 NA 4.5521626 1197 17 48269903 48269903 A G intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA Name=ZEB1_(SC-25388) NA NA rs2696247 0.18 0.18 0.188 0.198882 0.1392 0.369 0.1513 0.1006 0.2515 0.13 0.34 0.11 0.14 0.1731 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127778 NA NA 0.135814 0.113255 NA 0.159 NA 4.551886 1197 1 192216230 192216230 A G intergenic RGS18,RGS21 dist=61285;dist=69892 NA NA ncRNA_exonic ENSG00000226723 NA NA NA Score=837;Name=lod=3357 NA 1q31.2 NA NA NA NA rs1175148 0.43 0.43 0.442 0.471446 0.4483 0.1627 0.3775 0.761 0.4888 0.45 0.16 0.4 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379074 NA NA NA NA NA 0.551 NA 4.5517 1197 1 192216486 192216486 T C intergenic RGS18,RGS21 dist=61541;dist=69636 NA NA ncRNA_exonic ENSG00000226723 NA NA NA Score=837;Name=lod=3357 NA 1q31.2 NA NA NA NA rs1175147 0.43 0.43 0.46 0.471446 0.4483 0.1627 0.3775 0.761 0.4888 0.45 0.16 0.4 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21076 NA NA NA NA NA 0.543 NA 4.5517 1197 1 192216818 192216818 G A intergenic RGS18,RGS21 dist=61873;dist=69304 NA NA ncRNA_exonic ENSG00000236792 NA NA NA Score=837;Name=lod=3357 NA 1q31.2 NA NA NA NA rs1175145 0.43 0.43 0.458 0.471446 0.4483 0.1627 0.3775 0.761 0.4888 0.45 0.16 0.4 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144011 NA NA NA NA NA 0.551 NA 4.5517 1197 1 192216848 192216848 C G intergenic RGS18,RGS21 dist=61903;dist=69274 NA NA ncRNA_exonic ENSG00000236792 NA NA NA Score=837;Name=lod=3357 NA 1q31.2 NA NA NA NA rs1175144 0.42 0.42 0.443 0.471446 0.4483 0.1627 0.3775 0.761 0.4888 0.43 0.15 0.38 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293742 NA NA NA NA NA 0.543 NA 4.5517 1197 3 33558407 33558407 T C intronic CLASP2 NA NA NA intronic ENSG00000163539 NA NA NA NA NA 3p22.3 NA NA Name=3 NA rs1357541 0.42 0.42 0.407 0.395168 0.4483 0.3661 0.5447 0.3313 0.3507 0.46 0.37 0.53 0.34 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194563 NA NA NA NA NA 0.471 NA 4.5517 1197 10 8556152 8556152 A G intergenic GATA3,NONE dist=438988;dist=NONE NA NA ncRNA_exonic ENSG00000213771 NA NA NA Score=660;Name=lod=640 NA 10p14 NA NA NA NA rs4329577 0.49 0.49 0.475 0.483826 0.4483 0.5188 0.4697 0.5242 0.4397 0.44 0.55 0.46 0.53 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136303 NA NA NA NA NA 0.406 NA 4.5517 1197 18 14146624 14146624 G A intergenic ZNF519,ANKRD20A5P dist=14135;dist=32472 NA NA ncRNA_exonic ENSG00000267324 NA NA NA Score=626;Name=lod=468 NA 18p11.21 NA NA NA NA rs12607822 0.48 0.48 0.428 0.452077 0.4483 0.8423 0.5274 0.0726 0.5133 0.45 0.85 0.51 0.08 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527949 1.527949 NA NA NA NA 0.348 NA 4.5517 1197 18 14146691 14146691 G A intergenic ZNF519,ANKRD20A5P dist=14202;dist=32405 NA NA ncRNA_intronic ENSG00000267324 NA NA NA Score=626;Name=lod=468 NA 18p11.21 NA NA NA NA rs12607829 0.49 0.49 0.445 0.460064 0.4483 0.8413 0.5288 0.1029 0.5133 0.45 0.85 0.51 0.11 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630711 NA NA NA NA NA 0.377 NA 4.5517 1197 12 56294335 56294335 G A downstream WIBG NA NA NA ncRNA_exonic ENSG00000257569 NA NA NA Score=329;Name=lod=29 NA 12q13.2 NA Name=Pol2 NA NA rs9739196 0.75 0.75 0.782 0.74381 0.7952 0.7758 0.7637 0.5946 0.8456 0.8 0.8 0.72 0.64 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343797 NA NA 0.820553 0.607659 NA 0.79 NA 4.5509136 1197 1 79986910 79986910 C A intergenic ELTD1,NONE dist=514415;dist=NONE NA NA ncRNA_exonic ENSG00000232676 NA NA NA Score=804;Name=lod=2460 NA 1p31.1 NA NA NA NA rs17453405 0.28 0.28 0.274 0.243211 0.4493 0.1845 0.2622 0.0711 0.3108 0.43 0.23 0.3 0.09 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122727 NA NA NA NA NA 0.268 NA 4.5507 1197 1 79987501 79987501 T C intergenic ELTD1,NONE dist=515006;dist=NONE NA NA ncRNA_exonic ENSG00000232676 NA NA NA Score=804;Name=lod=2460 NA 1p31.1 NA NA NA NA rs17453503 0.28 0.28 0.271 0.243211 0.4493 0.1845 0.2622 0.0711 0.3108 0.43 0.23 0.3 0.09 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03449 NA NA NA NA NA 0.268 NA 4.5507 1197 7 2749170 2749170 G T intronic AMZ1 NA NA NA intronic ENSG00000174945 NA NA NA NA NA 7p22.3 NA Name=USF2,USF-1 NA NA rs4721978 0.34 0.34 NA 0.336661 0.4493 0.252 0.5216 0.1051 0.4898 0.44 0.28 0.5 0.13 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175826 NA NA NA NA NA NA NA 4.5507 1197 12 12721298 12721298 C T intergenic DUSP16,CREBL2 dist=5850;dist=43533 NA NA ncRNA_exonic ENSG00000240424 NA NA NA Score=758;Name=lod=1602 NA 12p13.2 NA NA NA NA rs4237941 0.29 0.29 0.268 0.266773 0.4493 0.0109 0.5216 0.1672 0.2965 0.45 0.02 0.54 0.18 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221658 NA NA NA NA NA 0.413 NA 4.5507 1197 14 107170410 107170410 G C intergenic LINC00221,NONE dist=218881;dist=NONE NA NA UTR5 ENSG00000211973 ENST00000390633:c.-43C>G NA NA NA NA 14q32.33 NA Name=Pol2,MEF2A,POU2F2,EBF1_(C-8),Oct-2,ZEB1_(SC-25388),NFKB Name=10 NA rs10220412 0.5 0.5 0.478 0.554113 0.4095 0.5069 0.4553 0.6619 0.6759 0.4 0.47 0.49 0.68 0.4732 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.187877 NA NA 0.40017 0.587273 NA 0.565 NA 4.5504634 1197 4 126241871 126241871 C T exonic FAT4 NA synonymous SNV FAT4:NM_024582:exon1:c.C4305T:p.I1435I exonic ENSG00000196159 NA synonymous SNV ENSG00000196159:ENST00000394329:exon1:c.C4305T:p.I1435I Score=440;Name=lod=82 NA 4q28.1 NA NA NA NA rs2710555 0.68 0.68 0.688 0.711262 0.7127 0.4474 0.7277 0.8979 0.7178 0.71 0.43 0.74 0.88 0.6974 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822881 NA NA 0.706353 0.858839 NA 0.761 NA 4.5502136 1197 12 14993608 14993608 G A exonic ART4 NA synonymous SNV ART4:NM_021071:exon2:c.C624T:p.L208L exonic ENSG00000111339 NA synonymous SNV ENSG00000111339:ENST00000228936:exon2:c.C624T:p.L208L,ENSG00000111339:ENST00000420600:exon2:c.C573T:p.L191L NA NA 12p12.3 NA NA NA NA rs3088189 0.28 0.28 0.263 0.292732 0.3728 0.0982 0.3746 0.2685 0.3855 0.36 0.09 0.41 0.28 0.3488 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659204 NA NA 0.395116 0.279392 ID=COSM147450;OCCURENCE=1(stomach),1(prostate) 0.42 NA 4.5499506 1197 3 107047443 107047443 C T intergenic LOC344595,CCDC54 dist=1632;dist=48745 NA NA ncRNA_exonic ENSG00000241218 NA NA NA Score=831;Name=lod=3189 NA 3q13.12 NA NA NA NA rs2676364 0.67 0.67 0.669 0.723842 0.4503 0.9772 0.6729 0.7345 0.7658 0.47 0.97 0.6 0.7 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094413 NA NA NA NA NA 0.565 NA 4.5497 1197 3 64601550 64601550 T C intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA Name=2 NA rs4589926 0.5 0.5 0.488 0.515974 0.4513 0.5278 0.4135 0.6082 0.5184 0.44 0.5 0.44 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312908 NA NA NA NA NA 0.587 NA 4.5487 1197 4 85166020 85166020 C T intergenic AGPAT9,NKX6-1 dist=638993;dist=248416 NA NA ncRNA_exonic ENSG00000214980 NA NA NA Score=833;Name=lod=3230 NA 4q21.23 NA NA NA NA rs348700 0.31 0.31 0.269 0.262979 0.4513 0.1359 0.3112 0.2821 0.1401 0.47 0.12 0.31 0.25 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023709 NA NA NA NA NA 0.399 NA 4.5487 1197 19 3911012 3911012 T A intronic ATCAY NA NA NA intronic ENSG00000167654 NA NA NA NA NA 19p13.3 NA Name=SUZ12 NA NA rs4807528 0.65 0.65 0.605 0.697484 0.4513 0.9425 0.6729 0.646 0.7853 0.44 0.94 0.65 0.64 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552995 NA NA NA NA NA 0.725 NA 4.5487 1197 7 93551428 93551428 C T UTR5 GNG11 NM_004126:c.-22C>T NA NA UTR5 ENSG00000127920 ENST00000248564:c.-22C>T NA NA NA NA 7q21.3 NA Name=CTCF_(C-20),EBF,Ini1,GATA-2,CTCF,TAF1,NRSF,Pol2 Name=125 NA rs4262 0.58 0.58 0.576 0.546725 0.5954 0.7411 0.5937 0.3351 0.5491 0.59 0.76 0.59 0.36 0.6103 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005356 NA NA 0.579186 0.360418 NA 0.63 NA 4.5484474 1197 1 82188756 82188756 G A intergenic NONE,LPHN2 dist=NONE;dist=77326 NA NA intronic ENSG00000117114 NA NA NA Score=588;Name=lod=327 NA 1p31.1 NA NA NA NA rs72715733 0.09 0.09 0.084 0.0932508 0.1183 0.0486 0.0821 0.084 0.1339 0.11 0.06 0.08 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464403 NA NA NA NA NA 0.145 NA 4.5483667 1197 14 70713961 70713961 G A ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs199806705 NA NA 0.014 0.0730831 0.1183 0.0813 0.0476 0.0658 0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446029 NA NA NA NA NA NA NA 4.5483666 1197 14 70713962 70713962 T C ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs201148427 NA NA 0.014 0.0728834 0.1183 0.0813 0.0476 0.0651 0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185924 NA NA NA NA NA NA NA 4.5483666 1197 11 1628844 1628844 A G UTR3 KRTAP5-3 NM_001012708:c.*55T>C NA NA UTR3 ENSG00000196224 ENST00000399685:c.*55T>C NA NA NA NA 11p15.5 NA NA Name=5 NA rs1989592 0.75 0.75 0.764 0.733626 0.7853 0.5169 0.7046 0.9198 0.6728 0.79 0.53 0.75 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315045 NA NA NA NA NA 0.703 NA 4.5480334 1197 11 6891528 6891528 C G exonic OR10A2 NA synonymous SNV OR10A2:NM_001004460:exon1:c.C543G:p.L181L exonic ENSG00000170790 NA synonymous SNV ENSG00000170790:ENST00000307322:exon1:c.C543G:p.L181L NA NA 11p15.4 NA NA NA NA rs7117739 0.29 0.29 0.28 0.328075 0.3678 0.3135 0.379 0.2073 0.4294 0.34 0.3 0.34 0.16 0.3617 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055001 NA NA 0.389199 0.203998 NA 0.254 NA 4.5479676 1197 8 22570844 22570844 G A UTR3 PEBP4 NM_144962:c.*39C>T NA NA ncRNA_UTR3 ENSG00000134020 NA NA NA NA NA 8p21.3 Score=985;Name=V$EN1_01 NA NA NA rs3853 0.32 0.32 0.297 0.285942 0.3221 0.2996 0.4582 0.2413 0.1728 0.33 0.29 0.44 0.27 0.3149 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715529 NA NA 0.315075 0.270736 NA 0.261 NA 4.547925 1197 12 122492598 122492598 A G intronic BCL7A NA NA NA intronic ENSG00000110987 NA NA NA NA NA 12q24.31 NA Name=ZNF263,CTCF,HMGN3,Pol2 NA NA rs2280573 0.5 0.5 0.502 0.507788 0.4523 0.504 0.4063 0.6498 0.4489 0.45 0.47 0.45 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410242 NA NA NA NA NA 0.572 NA 4.5477 1197 22 17118076 17118076 G A ncRNA_intronic TPTEP1 NA NA NA ncRNA_intronic ENSG00000100181 NA NA NA NA NA 22q11.1 NA NA NA NA rs71326265 0.05 0.05 0.035 0.038738 0.1193 NA 0.049 0.0053 0.0337 0.12 NA 0.07 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685173 NA NA NA NA NA 0.022 NA 4.5473666 1197 3 148459988 148459988 A C UTR3 AGTR1 NM_009585:c.*86A>C,NM_000685:c.*86A>C,NM_004835:c.*86A>C,NM_031850:c.*86A>C,NM_032049:c.*86A>C NA NA UTR3 ENSG00000144891 ENST00000497524:c.*86A>C,ENST00000418473:c.*86A>C,ENST00000542281:c.*86A>C,ENST00000349243:c.*86A>C,ENST00000404754:c.*86A>C,ENST00000474935:c.*86A>C,ENST00000475347:c.*86A>C,ENST00000461609:c.*86A>C,ENST00000402260:c.*86A>C NA NA NA NA 3q24 NA NA NA NA rs5186 0.16 0.16 0.135 0.117812 0.2724 0.0595 0.2334 0.0204 0.0685 0.27 0.07 0.23 0.03 0.2229 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.85036 NA NA 0.290809 0.063927 NA 0.159 CLINSIG=other;CLNDBN=Hypertension\x2c_essential\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000019688.2;CLNDSDB=.;CLNDSDBID=. 4.5472244 1197 5 82786194 82786194 T C exonic VCAN NA synonymous SNV VCAN:NM_001126336:exon3:c.T348C:p.T116T,VCAN:NM_001164097:exon3:c.T348C:p.T116T,VCAN:NM_001164098:exon3:c.T348C:p.T116T,VCAN:NM_004385:exon3:c.T348C:p.T116T exonic ENSG00000038427 NA synonymous SNV ENSG00000038427:ENST00000265077:exon3:c.T348C:p.T116T,ENSG00000038427:ENST00000342785:exon3:c.T348C:p.T116T,ENSG00000038427:ENST00000343200:exon3:c.T348C:p.T116T,ENSG00000038427:ENST00000502527:exon3:c.T348C:p.T116T,ENSG00000038427:ENST00000512590:exon3:c.T204C:p.T68T,ENSG00000038427:ENST00000513960:exon3:c.T348C:p.T116T,ENSG00000038427:ENST00000513984:exon3:c.T348C:p.T116T NA NA 5q14.2 NA NA NA NA rs12332199 0.37 0.37 0.384 0.342252 0.3936 0.2034 0.3775 0.5 0.1943 0.4 0.2 0.38 0.53 0.3483 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.048972 NA NA 0.377558 0.466863 NA 0.406 NA 4.5472086 1197 5 60040467 60040467 G A intergenic DEPDC1B,ELOVL7 dist=44474;dist=7149 NA NA ncRNA_exonic ENSG00000250148 NA NA NA Score=751;Name=lod=1502 NA 5q12.1 NA NA NA NA rs4577661 0.51 0.51 0.509 0.591653 0.4533 0.4335 0.4251 0.8048 0.727 0.45 0.4 0.44 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729241 NA NA NA NA NA 0.37 NA 4.5467 1197 9 74355185 74355185 T G intronic TMEM2 NA NA NA intronic ENSG00000135048 NA NA NA NA NA 9q21.13 NA NA Name=22 NA rs3753006 0.2 0.2 0.204 0.217252 0.1491 0.1577 0.2305 0.3631 0.1421 0.14 0.16 0.16 0.37 0.1696 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.248982 3.248982 NA 0.134651 0.337721 NA 0.268 NA 4.546649 1197 5 132219304 132219304 A T intronic AFF4 NA NA NA intronic ENSG00000072364 NA NA NA NA NA 5q31.1 NA Name=CTCF NA NA rs997633 0.1 0.1 0.084 0.105232 0.1451 0.1141 0.0937 0.0144 0.1861 0.15 0.12 0.11 0.02 0.1491 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938988 NA NA 0.159376 0.034665 NA 0.13 NA 4.546424 1197 7 75630274 75630274 T C exonic STYXL1 NA synonymous SNV STYXL1:NM_016086:exon8:c.A744G:p.Q248Q exonic ENSG00000127952 NA synonymous SNV ENSG00000127952:ENST00000340062:exon6:c.A456G:p.Q152Q,ENSG00000127952:ENST00000248600:exon8:c.A744G:p.Q248Q,ENSG00000127952:ENST00000359697:exon8:c.A744G:p.Q248Q,ENSG00000127952:ENST00000431581:exon8:c.A744G:p.Q248Q,ENSG00000127952:ENST00000451157:exon8:c.A744G:p.Q248Q Score=387;Name=lod=50 NA 7q11.23 NA NA NA NA rs8565 0.64 0.64 0.637 0.623802 0.7127 0.5585 0.6671 0.5953 0.6074 0.7 0.55 0.69 0.64 0.6783 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.215886 NA NA 0.729651 0.626192 NA 0.63 NA 4.5460156 1197 2 208133995 208133995 T C intergenic KLF7,CREB1 dist=102025;dist=260621 NA NA ncRNA_intronic ENSG00000223725,ENSG00000225064 NA NA NA NA NA 2q33.3 NA NA Name=6 NA rs10173558 0.22 0.22 0.22 0.248003 0.1252 0.1687 0.1902 0.4955 0.1626 0.14 0.19 0.19 0.42 0.186 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71704 NA NA 0.142797 0.456952 NA 0.362 NA 4.546003 1197 12 124399550 124399550 T C intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA Name=Visceral adipose tissue/subcutaneous adipose tissue ratio,Visceral adipose tissue adjusted for BMI 12q24.31 NA NA NA NA rs1316952 0.18 0.18 0.176 0.208466 0.1421 0.001 0.1455 0.5439 0.0818 0.13 0.0017 0.16 0.47 0.1727 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785043 NA NA 0.139211 0.43789 NA 0.188 NA 4.545989 1197 18 30846895 30846895 A T exonic CCDC178 NA nonsynonymous SNV CCDC178:NM_001105528:exon13:c.T1394A:p.V465E,CCDC178:NM_198995:exon14:c.T1394A:p.V465E exonic ENSG00000166960 NA nonsynonymous SNV ENSG00000166960:ENST00000581524:exon1:c.T35A:p.V12E,ENSG00000166960:ENST00000402325:exon12:c.T1394A:p.V465E,ENSG00000166960:ENST00000406524:exon12:c.T1394A:p.V465E,ENSG00000166960:ENST00000403303:exon13:c.T1394A:p.V465E,ENSG00000166960:ENST00000583930:exon13:c.T1394A:p.V465E,ENSG00000166960:ENST00000300227:exon14:c.T1394A:p.V465E,ENSG00000166960:ENST00000383096:exon14:c.T1394A:p.V465E,ENSG00000166960:ENST00000579947:exon14:c.T1394A:p.V465E NA NA 18q12.1 NA NA NA NA rs9965081 0.93 0.93 0.924 0.932508 0.9195 0.999 0.9452 0.8457 0.9857 0.92 1 0.94 0.86 0.9398 1 1 T 0.0 B 0.0 B . . 1.000 P -1.245 N 0.93 T -0.995 T 0.000 T 0.175 0.031 4.175 -0.968 -0.447 -0.838 4.267 0.03102 NA 1 0.928188 0.85698 NA 0.906 NA 4.5458454 1197 5 60040047 60040047 C G intergenic DEPDC1B,ELOVL7 dist=44054;dist=7569 NA NA ncRNA_exonic ENSG00000250148 NA NA NA Score=751;Name=lod=1502 NA 5q12.1 NA NA NA NA rs10054744 0.51 0.51 0.523 0.590056 0.4543 0.4335 0.4251 0.798 0.727 0.45 0.4 0.44 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147301 NA NA NA NA NA 0.543 NA 4.5457 1197 5 60040060 60040060 A T intergenic DEPDC1B,ELOVL7 dist=44067;dist=7556 NA NA ncRNA_exonic ENSG00000250148 NA NA NA Score=751;Name=lod=1502 NA 5q12.1 NA NA NA NA rs10069929 0.51 0.51 0.516 0.590056 0.4543 0.4335 0.4251 0.798 0.727 0.45 0.4 0.44 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393165 NA NA NA NA NA 0.543 NA 4.5457 1197 5 70928083 70928083 C T intronic MCCC2 NA NA NA intronic ENSG00000131844 NA NA NA NA NA 5q13.2 NA Name=p300 NA NA rs277981 0.39 0.39 0.384 0.390375 0.4543 0.3244 0.3012 0.3828 0.4663 0.46 0.33 0.34 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29799 NA NA NA NA NA 0.399 NA 4.5457 1197 6 160134122 160134122 T A intergenic SOD2,WTAP dist=19769;dist=13908 NA NA ncRNA_exonic ENSG00000220305 NA NA NA Score=593;Name=lod=343 NA 6q25.3 NA NA NA NA rs2077560 0.33 0.33 0.291 0.341254 0.4543 0.1617 0.5793 0.174 0.4673 0.46 0.15 0.55 0.18 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916254 NA NA NA NA NA 0.29 NA 4.5457 1197 6 160134991 160134991 C T intergenic SOD2,WTAP dist=20638;dist=13039 NA NA ncRNA_exonic ENSG00000220305 NA NA NA Score=529;Name=lod=189 NA 6q25.3 NA NA NA NA rs2758357 0.33 0.33 0.275 0.341254 0.4543 0.1617 0.5793 0.174 0.4673 0.46 0.15 0.55 0.18 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245469 NA NA NA NA NA 0.29 NA 4.5457 1197 1 248285906 248285906 G A ncRNA_exonic OR2M1P NA NA NA ncRNA_exonic ENSG00000177233 NA NA NA NA NA 1q44 NA NA NA NA rs41295946 0.07 0.07 0.062 0.0591054 0.0646 0.0982 0.0187 0.0567 0.045 0.06 0.14 0.02 0.06 0.0564 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538378 NA NA NA NA NA 0.072 NA 4.5456666 1197 6 33218589 33218589 C T ncRNA_UTR3 VPS52 NA NA NA ncRNA_UTR3 ENSG00000223501 NA NA NA NA NA 6p21.32 NA NA NA NA rs41266709 0.02 0.02 0.022 0.0241613 0.0408 0.0089 0.0288 0.0144 0.0327 0.04 0.01 0.04 0.01 0.035 0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086671 NA NA 0.045589 0.012252 NA 0.072 NA 4.5452776 1197 2 44617324 44617324 T A intronic CAMKMT NA NA NA intronic ENSG00000143919 NA NA NA NA NA 2p21 NA Name=CTCF_(C-20),CTCF Name=5 NA rs1085486 0.61 0.61 0.615 0.64357 0.7157 0.3423 0.6383 0.6861 0.8262 0.7 0.38 0.65 0.71 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613815 NA NA 0.739281 0.690029 NA 0.645 NA 4.545019 1197 10 6001696 6001696 C T intronic IL15RA NA NA NA intronic ENSG00000134470 NA NA NA NA NA 10p15.1 Score=919;Name=V$FOXO4_01 Name=CTCF,Rad21 NA NA rs3136618 0.5 0.5 0.502 0.536941 0.4612 0.4177 0.4885 0.6982 0.5542 0.47 0.42 0.49 0.65 0.5074 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26746 NA NA 0.486395 0.663187 NA 0.391 NA 4.545005 1198 3 125301711 125301711 C G intronic OSBPL11 NA NA NA intronic ENSG00000144909 NA NA NA NA NA 3q21.2 NA Name=CTCF_(C-20),Rad21,CTCF,SMC3_(ab9263) Name=28 NA rs2979382 0.53 0.53 0.548 0.56869 0.4652 0.3611 0.5591 0.854 0.5102 0.47 0.35 0.56 0.83 0.5124 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046869 NA NA 0.477442 0.793463 NA 0.674 NA 4.544958 1198 1 12027204 12027204 C T intronic PLOD1 NA NA NA intronic ENSG00000083444 NA NA NA NA NA 1p36.22 NA Name=CEBPB,ZNF263,CTCF NA NA rs2273293 0.51 0.51 0.493 0.563898 0.4553 0.6359 0.4467 0.5923 0.6462 0.45 0.57 0.44 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238647 NA NA NA NA NA 0.428 NA 4.5447 1198 11 9522567 9522567 T C intronic ZNF143 NA NA NA intronic ENSG00000166478 NA NA NA NA NA 11p15.4 NA NA Name=3 NA rs2290425 0.38 0.38 0.366 0.363618 0.4553 0.3194 0.4755 0.2859 0.3405 0.44 0.33 0.48 0.27 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573629 NA NA NA NA NA 0.471 NA 4.5447 1198 16 48531564 48531564 C T intergenic MIR548AE2,N4BP1 dist=111005;dist=41073 NA NA ncRNA_exonic ENSG00000260347 NA NA NA Score=786;Name=lod=2082 NA 16q12.1 NA NA NA NA rs2062555 0.55 0.55 0.545 0.547923 0.4553 0.8353 0.572 0.351 0.5961 0.46 0.87 0.51 0.36 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.57987 NA NA NA NA NA 0.399 NA 4.5447 1198 19 8152725 8152725 A G exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon52:c.T6603C:p.D2201D exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon52:c.T6603C:p.D2201D,ENSG00000142449:ENST00000600128:exon53:c.T6603C:p.D2201D,ENSG00000142449:ENST00000601739:exon53:c.T6603C:p.D2201D Score=512;Name=lod=160 NA 19p13.2 NA NA NA NA rs12460643 0.69 0.69 0.7 0.669129 0.7028 0.4633 0.7104 0.9297 0.4652 0.7 0.47 0.7 0.92 0.6849 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314362 NA NA 0.734302 0.895143 NA 0.638 NA 4.5446646 1198 19 22779068 22779068 T C ncRNA_exonic LOC440518 NA NA NA ncRNA_exonic ENSG00000269332 NA NA NA NA NA 19p12 NA NA NA NA rs16999456 0.26 0.26 0.234 0.298922 0.1223 0.1181 0.2608 0.6505 0.2188 0.12 0.13 0.26 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628285 NA NA NA NA NA 0.283 NA 4.5443666 1198 17 5036329 5036329 A G intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA Score=483;Name=lod=123 NA 17p13.2 NA NA NA NA rs72830923 NA NA 0.353 NA NA NA NA NA NA NA NA NA NA 0.4558 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413885 NA NA NA NA ID=COSN165314;OCCURENCE=1(breast) NA NA 4.5442 1198 6 32916699 32916699 C T intronic HLA-DMA NA NA NA intronic ENSG00000204257,ENSG00000248993 NA NA NA NA NA 6p21.32 NA Name=Pol2 NA NA rs129654 0.22 0.22 0.205 0.253994 0.2296 0.2609 0.2925 0.1921 0.3282 0.22 0.26 0.27 0.16 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579893 NA NA 0.226273 0.176301 NA 0.116 NA 4.544127 1198 1 205568442 205568442 G A intronic MFSD4 NA NA NA intronic ENSG00000174514 NA NA NA NA NA 1q32.1 NA NA Name=15 NA rs2282452 0.32 0.32 0.285 0.272963 0.4563 0.2946 0.3141 0.1059 0.2587 0.44 0.32 0.35 0.1 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.380599 1.380599 NA NA NA NA 0.232 NA 4.5437 1198 1 207105641 207105641 C T intronic PIGR NA NA NA intronic ENSG00000162896 NA NA NA NA NA 1q32.1 NA NA Name=6 NA rs908702 0.34 0.34 0.324 0.289736 0.4563 0.3284 0.3242 0.1702 0.2157 0.45 0.31 0.37 0.19 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97054 NA NA NA NA NA 0.435 NA 4.5437 1198 9 139697599 139697599 T C intronic KIAA1984 NA NA NA intronic ENSG00000213213 NA NA NA Score=452;Name=lod=92 NA 9q34.3 NA NA NA NA rs7048415 NA NA 0.4 0.454473 0.4563 0.4315 0.4741 0.3888 0.5511 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263748 NA NA NA NA NA NA NA 4.5437 1198 14 36524098 36524098 A G intergenic BRMS1L,LINC00609 dist=182929;dist=15535 NA NA ncRNA_exonic ENSG00000257720 NA NA NA Score=614;Name=lod=416 NA 14q13.2 NA NA NA NA rs107196 0.55 0.55 0.563 0.627596 0.4563 0.4395 0.5865 0.8442 0.7342 0.46 0.44 0.56 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.201141 NA NA NA NA ID=COSN164668;OCCURENCE=1(breast) 0.565 NA 4.5437 1198 14 75340818 75340818 G A intergenic PROX2,DLST dist=10281;dist=7776 NA NA ncRNA_exonic ENSG00000258587 NA NA NA Score=476;Name=lod=115 NA 14q24.3 NA NA NA NA rs4903262 0.5 0.5 0.482 0.525359 0.4563 0.4107 0.4755 0.5991 0.6503 0.47 0.45 0.47 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194477 NA NA NA NA NA 0.406 NA 4.5437 1198 14 75360906 75360906 G A intronic DLST NA NA NA intronic ENSG00000119689 NA NA NA NA NA 14q24.3 NA NA Name=5 NA rs2070598 0.49 0.49 0.45 0.506789 0.4563 0.4127 0.4697 0.559 0.6115 0.47 0.46 0.46 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288628 NA NA NA NA NA 0.391 NA 4.5437 1198 16 48531171 48531171 G T intergenic MIR548AE2,N4BP1 dist=110612;dist=41466 NA NA ncRNA_exonic ENSG00000260347 NA NA NA Score=786;Name=lod=2082 NA 16q12.1 NA NA NA NA rs2062553 0.55 0.55 0.53 0.544928 0.4563 0.8353 0.5677 0.3411 0.5961 0.46 0.87 0.5 0.35 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163217 NA NA NA NA NA 0.391 NA 4.5437 1198 13 110866265 110866265 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA Name=3 NA rs9521650 0.15 0.15 0.155 0.130391 0.16 0.2143 0.1427 0.0749 0.0798 0.16 0.23 0.13 0.06 0.1429 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702687 NA NA 0.153605 0.095552 NA 0.087 NA 4.543495 1198 1 6314822 6314822 T C exonic GPR153 NA synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T exonic ENSG00000158292 NA synonymous SNV ENSG00000158292:ENST00000377893:exon2:c.A144G:p.T48T NA NA 1p36.31 Score=748;Name=V$MYOGNF1_01 NA NA NA rs11590458 0.71 0.71 0.691 0.73143 0.7127 0.6181 0.8012 0.8086 0.7137 0.72 0.6 0.77 0.79 0.7092 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.335712 NA NA 0.701512 0.790967 NA 0.623 NA 4.5432546 1198 20 55033647 55033647 T C exonic CASS4 NA synonymous SNV CASS4:NM_001164115:exon5:c.T894C:p.R298R,CASS4:NM_001164114:exon6:c.T2043C:p.R681R,CASS4:NM_020356:exon6:c.T2205C:p.R735R,CASS4:NM_001164116:exon7:c.T2205C:p.R735R exonic ENSG00000087589 NA synonymous SNV ENSG00000087589:ENST00000434344:exon5:c.T894C:p.R298R,ENSG00000087589:ENST00000371336:exon6:c.T2205C:p.R735R,ENSG00000087589:ENST00000360314:exon7:c.T2205C:p.R735R NA NA 20q13.31 NA NA NA NA rs3746625 0.51 0.51 0.484 0.525759 0.339 0.9196 0.5245 0.4138 0.4642 0.32 0.92 0.47 0.37 0.4439 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558584 NA NA 0.340581 0.402633 NA 0.37 NA 4.5431856 1198 17 45368337 45368337 A C exonic ITGB3 NA synonymous SNV ITGB3:NM_000212:exon9:c.A1143C:p.V381V exonic ENSG00000259207,ENSG00000259753 NA synonymous SNV ENSG00000259207:ENST00000435993:exon9:c.A1002C:p.V334V,ENSG00000259207:ENST00000559488:exon9:c.A1143C:p.V381V,ENSG00000259207:ENST00000571680:exon9:c.A1143C:p.V381V NA NA 17q21.32 NA NA NA NA rs15908 0.43 0.43 0.434 0.43111 0.3678 0.5476 0.3602 0.4115 0.453 0.36 0.55 0.36 0.46 0.3902 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157682 NA NA 0.366512 0.421244 NA 0.391 NA 4.5421546 1198 8 97172403 97172403 A G intronic GDF6 NA NA NA intronic ENSG00000156466 NA NA NA NA NA 8q22.1 NA NA Name=61 NA rs2466129 0.28 0.28 0.231 0.271965 0.4583 0.1716 0.2911 0.0514 0.4683 0.47 0.2 0.33 0.04 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.256737 1.256737 NA NA NA NA 0.225 NA 4.5417 1198 2 228120703 228120703 T C ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs28470865 0.1 0.1 0.128 0.127596 0.0328 0.0526 0.0375 0.3608 0.0511 0.03 0.07 0.04 0.3 0.0601 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104142 NA NA 0.032076 0.25938 NA 0.094 NA 4.5416906 1198 21 43557559 43557559 T A exonic UMODL1 NA synonymous SNV UMODL1:NM_001199527:exon21:c.T3954A:p.P1318P,UMODL1:NM_173568:exon21:c.T4170A:p.P1390P,UMODL1:NM_001004416:exon22:c.T3786A:p.P1262P,UMODL1:NM_001199528:exon22:c.T3570A:p.P1190P exonic ENSG00000177398 NA synonymous SNV ENSG00000177398:ENST00000400427:exon21:c.T3954A:p.P1318P,ENSG00000177398:ENST00000408989:exon21:c.T4170A:p.P1390P,ENSG00000177398:ENST00000400424:exon22:c.T3570A:p.P1190P,ENSG00000177398:ENST00000408910:exon22:c.T3786A:p.P1262P NA NA 21q22.3 NA NA NA NA rs3819141 0.33 0.33 0.31 0.335463 0.3718 0.4097 0.3703 0.1785 0.409 0.36 0.41 0.38 0.17 0.3756 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056372 NA NA 0.377754 0.210337 NA 0.283 NA 4.5415126 1198 2 130971063 130971063 C T intergenic TUBA3E,CCDC115 dist=15029;dist=124753 NA NA ncRNA_exonic ENSG00000230756 NA NA NA Score=574;Name=lod=286 NA 2q21.1 NA NA NA NA rs12467443 0.43 0.43 0.251 0.490216 0.4592 0.5675 0.5562 0.4009 0.5164 0.41 0.49 0.48 0.35 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248822 NA NA NA NA NA 0.043 NA 4.5408 1198 12 17536443 17536443 T C intergenic SKP1P2,MIR3974 dist=392881;dist=289790 NA NA ncRNA_exonic ENSG00000256896 NA NA NA Score=833;Name=lod=3228 NA 12p12.3 NA NA NA NA rs1163971 0.39 0.39 0.363 0.351238 0.4592 0.3274 0.4611 0.2383 0.3395 0.46 0.35 0.49 0.25 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737667 NA NA NA NA NA 0.326 NA 4.5408 1198 20 55033713 55033713 G A exonic CASS4 NA synonymous SNV CASS4:NM_001164115:exon5:c.G960A:p.T320T,CASS4:NM_001164114:exon6:c.G2109A:p.T703T,CASS4:NM_020356:exon6:c.G2271A:p.T757T,CASS4:NM_001164116:exon7:c.G2271A:p.T757T exonic ENSG00000087589 NA synonymous SNV ENSG00000087589:ENST00000434344:exon5:c.G960A:p.T320T,ENSG00000087589:ENST00000371336:exon6:c.G2271A:p.T757T,ENSG00000087589:ENST00000360314:exon7:c.G2271A:p.T757T NA NA 20q13.31 NA NA NA NA rs3746626 0.52 0.52 0.492 0.525559 0.34 0.9196 0.5245 0.413 0.4632 0.33 0.92 0.47 0.37 0.447 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.457101 NA NA 0.339149 0.401453 NA 0.377 NA 4.5405176 1198 14 70714259 70714259 A G ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs7144638 NA NA 0.15 0.156949 0.1262 0.2907 0.085 0.1505 0.1104 NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225908 NA NA NA NA NA 0.116 NA 4.5404666 1198 12 68724951 68724951 G T exonic MDM1 NA synonymous SNV MDM1:NM_001205028:exon2:c.C69A:p.S23S,MDM1:NM_001205029:exon2:c.C69A:p.S23S,MDM1:NM_017440:exon2:c.C69A:p.S23S,MDM1:NM_020128:exon2:c.C69A:p.S23S exonic ENSG00000111554 NA synonymous SNV ENSG00000111554:ENST00000303145:exon2:c.C69A:p.S23S,ENSG00000111554:ENST00000393543:exon2:c.C69A:p.S23S,ENSG00000111554:ENST00000411698:exon2:c.C69A:p.S23S,ENSG00000111554:ENST00000430606:exon2:c.C69A:p.S23S,ENSG00000111554:ENST00000541686:exon2:c.C54A:p.S18S Score=284;Name=lod=19 NA 12q15 NA NA NA NA rs3741808 0.68 0.68 0.691 0.67492 0.7187 0.4474 0.7378 0.8101 0.637 0.71 0.47 0.75 0.81 0.6943 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676537 NA NA 0.713488 0.786882 NA 0.659 NA 4.5401786 1198 1 53513437 53513437 T C intronic SCP2 NA NA NA intronic ENSG00000116171 NA NA NA NA NA 1p32.3 NA Name=eGFP-JunB,KAP1,eGFP-JunD,c-Fos,GATA-2,c-Jun,eGFP-FOS,MafK_(ab50322),ELF1_(SC-631),CCNT2,CEBPB NA NA rs1288362 0.29 0.29 0.258 0.249601 0.4602 0.255 0.2983 0.0439 0.271 0.46 0.26 0.33 0.05 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337481 NA NA NA NA ID=COSN163085;OCCURENCE=1(breast) 0.442 NA 4.5398 1198 16 48531408 48531408 A C intergenic MIR548AE2,N4BP1 dist=110849;dist=41229 NA NA ncRNA_exonic ENSG00000260347 NA NA NA Score=786;Name=lod=2082 NA 16q12.1 NA NA NA NA rs2062554 0.63 0.63 0.632 0.655751 0.4602 0.8373 0.6095 0.7337 0.5971 0.46 0.87 0.54 0.67 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173129 NA NA NA NA NA 0.471 NA 4.5398 1198 2 225750753 225750753 T C intronic DOCK10 NA NA NA intronic ENSG00000135905 NA NA NA NA NA 2q36.2 NA NA Name=3 NA rs10197805 0.19 0.19 0.215 0.224241 0.1412 0.0556 0.0937 0.5272 0.1667 0.14 0.06 0.08 0.49 0.1689 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479343 NA NA 0.150145 0.470269 NA 0.341 NA 4.539755 1198 3 54930699 54930699 A T ncRNA_exonic CACNA2D3-AS1 NA NA NA ncRNA_exonic ENSG00000243715 NA NA NA NA NA 3p14.3 NA NA NA NA rs6445708 0.12 0.12 0.126 0.132188 0.1272 0.0536 0.1124 0.1831 0.1636 0.12 0.05 0.14 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759166 NA NA NA NA ID=COSN166906;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.116 NA 4.5394666 1198 3 193711182 193711182 G A ncRNA_exonic DPPA2P3 NA NA NA ncRNA_exonic ENSG00000224403 NA NA NA NA NA 3q29 NA NA NA NA rs6777021 0.39 0.39 0.376 0.432907 0.1272 0.5288 0.2853 0.6808 0.4182 0.13 0.54 0.28 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380885 NA NA NA NA NA 0.399 NA 4.5394666 1198 2 228118910 228118910 A G ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs13386404 0.12 0.12 0.128 0.138379 0.0328 0.0536 0.0418 0.3986 0.0511 0.03 0.07 0.05 0.35 0.0628 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531427 NA NA 0.032045 0.295152 NA 0.101 NA 4.5390216 1198 1 43353134 43353134 G T intergenic ZNF691,SLC2A1 dist=34988;dist=37912 NA NA ncRNA_exonic ENSG00000233708 NA NA NA Score=436;Name=lod=79 NA 1p34.2 NA NA NA NA rs6674019 0.35 0.35 0.34 0.350639 0.4612 0.1925 0.2911 0.4349 0.3282 0.46 0.18 0.32 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430912 NA NA NA NA NA 0.493 NA 4.5388 1198 22 16364923 16364923 C A intergenic POTEH,OR11H1 dist=76986;dist=83901 NA NA ncRNA_exonic ENSG00000231565 NA NA NA Score=770;Name=lod=1797 NA 22q11.1 NA NA NA NA rs5771604 0.43 0.43 0.475 0.540136 0.4612 0.3363 0.4582 0.8442 0.4785 0.37 0.22 0.36 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218327 NA NA NA NA NA 0.007 NA 4.5388 1198 6 108425822 108425822 T G intergenic OSTM1,NR2E1 dist=29881;dist=61393 NA NA intronic ENSG00000081087 NA NA NA Score=592;Name=lod=341 NA 6q21 NA NA NA NA rs6938700 0.15 0.15 0.15 0.167931 0.1282 0.1766 0.121 0.2587 0.1104 0.12 0.15 0.11 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.484049 NA NA NA NA NA 0.174 NA 4.5384667 1198 19 10129262 10129262 T C intronic RDH8 NA NA NA intronic ENSG00000080511 NA NA NA NA NA 19p13.2 NA Name=STAT3 NA NA rs1644733 0.54 0.54 0.534 0.583666 0.4622 0.5635 0.562 0.6225 0.6922 0.47 0.59 0.52 0.6 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182646 NA NA NA NA NA 0.587 NA 4.5378 1198 16 81929488 81929488 C T exonic PLCG2 NA synonymous SNV PLCG2:NM_002661:exon13:c.C1149T:p.D383D exonic ENSG00000197943 NA synonymous SNV ENSG00000197943:ENST00000359376:exon13:c.C1149T:p.D383D NA NA 16q23.3 NA NA NA NA rs1143688 0.43 0.43 0.4 0.40655 0.3549 0.7113 0.5994 0.1029 0.4192 0.38 0.71 0.54 0.12 0.4158 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433399 NA NA 0.358493 0.147017 NA 0.413 NA 4.5374736 1198 2 79363147 79363147 A G ncRNA_exonic REG1P NA NA NA ncRNA_exonic ENSG00000204787 NA NA NA NA NA 2p12 NA NA NA NA rs17016388 0.13 0.13 0.098 0.112819 0.1292 0.1964 0.1427 0.025 0.1074 0.14 0.2 0.14 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095348 NA NA NA NA NA 0.101 NA 4.5374666 1198 4 141549428 141549428 A T intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA NA NA 4q31.21 NA NA Name=6 NA rs2291710 0.23 0.23 0.246 0.25599 0.1511 0.1419 0.1542 0.5295 0.184 0.15 0.11 0.19 0.53 0.1731 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058817 NA NA 0.138384 0.435226 ID=COSN167339;OCCURENCE=1(large_intestine),1(endometrium) 0.29 NA 4.537416 1198 22 29915144 29915144 C T intronic THOC5 NA NA NA ncRNA_intronic ENSG00000234208 NA NA NA NA NA 22q12.2 NA Name=BCL3 NA NA rs2072301 0.25 0.25 0.249 0.224042 0.2714 0.3065 0.1816 0.2322 0.1094 0.26 0.25 0.22 0.25 0.2512 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556229 NA NA 0.273488 0.226055 NA 0.268 NA 4.5372453 1198 13 50464734 50464734 A C ncRNA_exonic CTAGE10P NA NA NA ncRNA_exonic ENSG00000181358 NA NA NA NA NA 13q14.2 NA NA NA NA rs61747168 0.05 0.05 0.032 0.0890575 0.0507 0.0903 0.0461 0.0545 0.2045 0.04 0.07 0.07 0.04 0.079 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558524 NA NA NA NA NA 0.058 NA 4.5369666 1198 4 70172393 70172393 G A intergenic UGT2B28,UGT2B4 dist=11625;dist=173490 NA NA ncRNA_exonic ENSG00000251691 NA NA NA NA NA 4q13.2 NA NA Name=4 NA rs13110659 0.36 0.36 0.293 0.373403 0.4632 0.369 0.4582 0.2844 0.3456 0.46 0.31 0.4 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944387 NA NA NA NA NA 0.13 NA 4.5368 1198 17 5415623 5415623 C T intronic NLRP1 NA NA NA intronic ENSG00000091592 NA NA NA Score=642;Name=lod=544 NA 17p13.2 NA NA NA NA rs9911319 0.63 0.63 0.638 0.648962 0.4632 0.8998 0.4308 0.6929 0.6769 0.47 0.91 0.43 0.69 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.752513 3.752513 NA NA NA NA 0.536 NA 4.5368 1198 13 50464739 50464739 G A ncRNA_exonic CTAGE10P NA NA NA ncRNA_exonic ENSG00000181358 NA NA NA NA NA 13q14.2 NA NA NA NA rs61747167 0.05 0.05 0.026 0.0890575 0.0507 0.0903 0.0461 0.0545 0.2045 0.04 0.07 0.06 0.03 0.0793 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545178 NA NA NA NA NA 0.058 NA 4.5366666 1198 7 139102490 139102490 A G ncRNA_intronic LOC100129148 NA NA NA intronic ENSG00000146963,ENSG00000269955 NA NA NA NA NA 7q34 NA Name=Pol2-4H8 NA NA rs3778931 0.39 0.39 0.419 0.413738 0.2753 0.2014 0.2695 0.8684 0.2628 0.27 0.22 0.3 0.85 0.2789 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.490796 1.490796 NA 0.242656 0.739951 NA 0.471 NA 4.5364773 1198 5 1614919 1614919 A G ncRNA_intronic LOC728613 NA NA NA ncRNA_intronic ENSG00000188002 NA NA NA NA NA 5p15.33 NA NA NA NA rs2883372 0.11 0.11 0.108 0.123403 0.1302 0.0069 0.1037 0.2542 0.0736 0.12 0.0017 0.12 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633568 NA NA NA NA NA 0.152 NA 4.5364666 1198 X 142795225 142795225 G A exonic SPANXN2 NA synonymous SNV SPANXN2:NM_001009615:exon2:c.C453T:p.D151D exonic ENSG00000203924 NA synonymous SNV ENSG00000203924:ENST00000370498:exon2:c.C453T:p.D151D NA NA Xq27.3 NA NA NA NA rs3859898 0.65 0.65 0.66455 NA NA NA NA NA NA 0.53 0.85 0.62 0.61 0.5778 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812645 NA NA 0.552467 0.591656 NA 0.123 NA 4.5363996 1198 19 54849481 54849481 T G exonic LILRA4 NA synonymous SNV LILRA4:NM_012276:exon4:c.A381C:p.A127A exonic ENSG00000239961 NA synonymous SNV ENSG00000239961:ENST00000291759:exon4:c.A381C:p.A127A NA NA 19q13.42 NA NA NA NA rs7256494 0.36 0.36 0.358 0.389577 0.3638 0.2589 0.4251 0.4554 0.4366 0.35 0.26 0.41 0.43 0.3898 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.90572 NA NA 0.376744 0.444394 ID=COSM1396282;OCCURENCE=1(large_intestine) 0.391 NA 4.5363226 1198 16 78198236 78198236 G A intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA Name=20 NA rs2303190 0.14 0.14 0.122 0.115415 0.1402 0.2341 0.1297 0.0151 0.093 0.15 0.21 0.18 0.02 0.1528 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.481212 NA NA 0.170966 0.049442 NA 0.072 NA 4.536034 1198 16 3074426 3074426 G C intronic THOC6 NA NA NA intronic ENSG00000131652 NA NA NA NA NA 16p13.3 NA Name=TCF12,USF-1,IRF1,CCNT2,c-Myc,ZEB1_(SC-25388),PAX5-C20,PAX5-N19,SREBP2,SIX5,Ini1,YY1,HA-E2F1,Pol2-4H8,FOSL2,CHD2_(N-1250),GTF2F1_(RAP-74),Max,ELF1_(SC-631),ATF3,Mxi1_(bHLH),Pol2,BCLAF1_(M33-P5B11),YY1_(C-20),Brg1,BRCA1_(C-1863),TR4,USF1_(SC-8983),ETS1,Znf143_(16618-1-AP),E2F4,ZBTB33,GABP,USF2 NA NA rs56708449 0.16 0.16 0.135 0.167332 0.2376 0.124 0.1902 0.0461 0.2873 0.24 0.11 0.2 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250007 NA NA 0.226587 0.078757 NA 0.196 NA 4.535813 1198 2 128006078 128006078 C T intergenic CYP27C1,ERCC3 dist=42735;dist=8788 NA NA ncRNA_exonic ENSG00000226789 NA NA NA Score=548;Name=lod=225 NA 2q14.3 NA NA NA NA rs2174270 0.49 0.49 0.459 0.445288 0.4642 0.6052 0.6066 0.3419 0.2863 0.47 0.61 0.59 0.32 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35295 NA NA NA NA NA 0.297 NA 4.5358 1198 2 128007074 128007074 A T intergenic CYP27C1,ERCC3 dist=43731;dist=7792 NA NA ncRNA_exonic ENSG00000226789 NA NA NA Score=583;Name=lod=312 NA 2q14.3 NA NA NA NA rs12465955 0.48 0.48 0.435 0.427316 0.4642 0.6052 0.6138 0.27 0.2863 0.47 0.61 0.59 0.26 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668145 NA NA NA NA NA 0.29 NA 4.5358 1198 6 104466287 104466287 G A intergenic GRIK2,HACE1 dist=1948329;dist=709681 NA NA ncRNA_exonic ENSG00000216817 NA NA NA Score=732;Name=lod=1256 NA 6q16.3 NA NA NA NA rs2205746 0.59 0.59 0.568 0.571486 0.4642 0.7302 0.6254 0.6354 0.3937 0.47 0.76 0.57 0.61 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.038069 NA NA NA NA NA 0.717 NA 4.5358 1198 9 68414170 68414170 A C intergenic ANKRD20A3,LOC642236 dist=443877;dist=13613 NA NA ncRNA_exonic ENSG00000232815 NA NA NA NA NA 9q13 NA NA Name=129 NA rs75137747 NA NA NA 0.465655 0.4642 0.4544 0.4712 0.4758 0.4611 NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300214 NA NA NA NA NA 0.058 NA 4.5358 1198 11 12234704 12234704 G A intronic MICAL2 NA NA NA intronic ENSG00000133816 NA NA NA NA NA 11p15.3 NA NA Name=7 NA rs954428 0.24 0.24 0.218 0.228834 0.4642 0.0387 0.3242 0.0507 0.3558 0.48 0.03 0.33 0.06 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.091184 NA NA NA NA NA 0.304 NA 4.5358 1198 15 41815649 41815649 A G intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA Name=9 NA rs2297377 0.48 0.48 0.469 0.470048 0.4642 0.6637 0.415 0.3502 0.4775 0.46 0.69 0.41 0.33 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754264 NA NA NA NA NA 0.5 NA 4.5358 1198 10 49763618 49763618 C T intronic ARHGAP22 NA NA NA intronic ENSG00000128805 NA NA NA Score=251;Name=lod=14 NA 10q11.22 NA NA NA NA rs1838570 0.14 0.14 0.103 0.144169 0.1561 0.0655 0.3242 0.1195 0.1186 0.15 0.08 0.27 0.1 0.1621 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.377835 3.377835 NA 0.146047 0.131639 NA 0.145 NA 4.535753 1198 14 39583481 39583481 A G upstream GEMIN2 NA NA NA UTR5 ENSG00000092208 ENST00000308317:c.-29A>G NA NA Score=363;Name=lod=40 NA 14q21.1 NA Name=FOXA1_(C-20),RFX5_(N-494),YY1,HA-E2F1,Sin3Ak-20,HDAC2_(SC-6296),Pol2-4H8,c-Myc,HEY1,NFKB,USF-1,Nrf1,TBP,TAF1,Pol2,Mxi1_(bHLH),YY1_(C-20),TR4,ELF1_(SC-631),FOXA2_(SC-6554),HNF4G_(SC-6558),CEBPB,GTF2F1_(RAP-74) Name=148 NA rs2277458 0.77 0.77 0.781 0.77496 0.828 0.6349 0.7565 0.8608 0.7618 0.82 0.62 0.8 0.86 0.8094 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984551 NA NA 0.827093 0.856559 NA 0.906 NA 4.535507 1198 16 57736047 57736047 G A intronic CCDC135 NA NA NA intronic ENSG00000159625 NA NA NA NA NA 16q21 NA NA Name=6 NA rs72795521 0.2 0.2 0.182 0.185703 0.1551 0.2669 0.2493 0.1513 0.135 0.16 0.25 0.22 0.18 0.1724 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.943883 1.943883 NA 0.137326 0.150364 NA 0.159 NA 4.535174 1198 17 4848450 4848450 A G UTR3 RNF167 NM_015528:c.*139A>G NA NA UTR3 ENSG00000108523 ENST00000571816:c.*139A>G,ENST00000572430:c.*139A>G,ENST00000262482:c.*139A>G,ENST00000575111:c.*139A>G,ENST00000576229:c.*139A>G,ENST00000572382:c.*308A>G,ENST00000576965:c.*308A>G NA NA NA NA 17p13.2 NA Name=Oct-2,POU2F2,Pol2,Brg1,Pol2-4H8 NA NA rs6559 0.76 0.76 0.722 0.726837 0.7982 0.498 0.8559 0.9463 0.501 0.8 0.49 0.84 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047725 NA NA NA NA NA 0.848 NA 4.5351334 1198 18 7012123 7012123 A G exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon24:c.T3378C:p.G1126G exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon24:c.T3378C:p.G1126G NA NA 18p11.31 NA NA NA NA rs9946794 0.4 0.4 0.402 0.420128 0.3648 0.0536 0.3833 0.851 0.2986 0.37 0.05 0.44 0.83 0.3774 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916028 NA NA 0.389419 0.759419 ID=COSM438362;OCCURENCE=1(breast) 0.529 NA 4.5350476 1199 1 12033113 12033113 A G intronic PLOD1 NA NA NA intronic ENSG00000083444 NA NA NA NA NA 1p36.22 NA NA Name=4 NA rs3737961 0.58 0.58 0.565 0.64976 0.4652 0.6875 0.4784 0.826 0.684 0.46 0.63 0.48 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523179 NA NA NA NA NA 0.471 NA 4.5348 1199 1 12033120 12033120 G C intronic PLOD1 NA NA NA intronic ENSG00000083444 NA NA NA NA NA 1p36.22 NA NA Name=4 NA rs3820190 0.59 0.59 0.563 0.659345 0.4652 0.6875 0.4813 0.8608 0.684 0.46 0.63 0.48 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003684 NA NA NA NA NA 0.471 NA 4.5348 1199 11 94179125 94179125 T C intronic MRE11A NA NA NA intronic ENSG00000020922 NA NA NA NA NA 11q21 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs1014666 0.51 0.51 0.495 0.517173 0.4652 0.505 0.4971 0.5136 0.6022 0.44 0.55 0.5 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124302 NA NA NA NA NA 0.442 NA 4.5348 1199 14 106445179 106445179 T A intergenic ADAM6,LINC00226 dist=6821;dist=299090 NA NA ncRNA_exonic ENSG00000225200 NA NA NA Score=758;Name=lod=1612 NA 14q32.33 NA NA NA NA rs76723509 0.33 0.33 0.32 0.314696 0.4652 0.2907 0.3501 0.1747 0.3487 0.46 0.3 0.31 0.17 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213152 NA NA NA NA NA 0.203 NA 4.5348 1199 16 81180988 81180988 C G exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=309;Name=lod=24 NA 16q23.2 NA NA NA NA rs7194136 0.3 0.3 0.288 0.275958 0.502 0.1528 0.255 0.1619 0.3395 0.51 0.14 0.3 0.17 0.4258 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.109331 2.109331 NA 0.537515 0.218346 NA 0.341 NA 4.534685 1199 15 25231988 25231988 C G ncRNA_exonic PAR5 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs59131251 0.11 0.11 0.09 0.117013 0.1322 0.1131 0.196 0.0091 0.1953 0.13 0.12 0.15 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142257 NA NA NA NA NA 0.065 NA 4.5344666 1199 2 160086653 160086653 C T exonic TANC1 NA synonymous SNV TANC1:NM_033394:exon27:c.C4716T:p.A1572A exonic ENSG00000115183 NA synonymous SNV ENSG00000115183:ENST00000454300:exon25:c.C4398T:p.A1466A,ENSG00000115183:ENST00000263635:exon27:c.C4716T:p.A1572A NA NA 2q24.2 NA NA NA NA rs4664276 0.4 0.4 0.422 0.491014 0.3718 0.6161 0.6037 0.3949 0.5348 0.3 0.54 0.48 0.33 0.4295 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.531393 NA NA 0.331562 0.364524 NA NA NA 4.5338046 1199 19 16033379 16033379 G T intronic CYP4F11 NA NA NA intronic ENSG00000171903 NA NA NA NA NA 19p13.12 Score=918;Name=V$AP1FJ_Q2 NA NA NA rs4808409 0.37 0.37 0.354 0.307907 0.4662 0.2212 0.379 0.2685 0.2372 0.49 0.24 0.35 0.34 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104411 NA NA NA NA NA 0.442 NA 4.5338 1199 19 51135457 51135457 G A intronic SYT3 NA NA NA intronic ENSG00000213023 NA NA NA NA NA 19q13.33 NA Name=CTCF NA NA rs1363756 0.48 0.48 0.498 0.520367 0.4662 0.1667 0.5951 0.8404 0.455 0.46 0.17 0.54 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473762 NA NA NA NA NA 0.449 NA 4.5338 1199 3 54921903 54921903 T C ncRNA_intronic CACNA2D3-AS1 NA NA NA ncRNA_intronic ENSG00000243715 NA NA NA NA NA 3p14.3 NA NA NA NA rs3773594 0.15 0.15 0.142 0.16853 0.1332 0.0685 0.1225 0.2905 0.1759 0.12 0.07 0.15 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294834 NA NA NA NA NA 0.116 NA 4.5334666 1199 14 107012917 107012917 T C intergenic LINC00221,NONE dist=61388;dist=NONE NA NA downstream ENSG00000211965 NA NA NA NA NA 14q32.33 NA Name=SMC3_(ab9263),YY1_(C-20),CTCFL_(SC-98982),Znf143_(16618-1-AP),CTCF,Rad21,CTCF_(SC-5916),TCF12,SRF,CTCF_(C-20) Name=20 NA rs2073675 0.38 0.38 0.351 0.378195 0.3181 0.4266 0.2911 0.4728 0.3241 0.33 0.42 0.29 0.49 0.339 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164703 NA NA 0.309651 0.451396 NA 0.304 NA 4.533249 1199 2 125671544 125671544 G A intronic CNTNAP5 NA NA NA intronic ENSG00000155052 NA NA NA NA NA 2q14.3 NA NA Name=12 NA rs1840205 0.39 0.39 0.402 0.398962 0.4672 0.1617 0.3458 0.5431 0.4162 0.48 0.18 0.36 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437516 NA NA NA NA NA 0.377 NA 4.5328 1199 4 189061223 189061223 C T intronic TRIML1 NA NA NA intronic ENSG00000184108 NA NA NA NA NA 4q35.2 NA NA Name=4 NA rs13131409 0.29 0.29 0.242 0.25599 0.4672 0.0645 0.4942 0.1172 0.2546 0.47 0.09 0.49 0.11 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048002 NA NA NA NA NA 0.341 NA 4.5328 1199 14 106444926 106444926 G A intergenic ADAM6,LINC00226 dist=6568;dist=299343 NA NA ncRNA_exonic ENSG00000225200 NA NA NA Score=758;Name=lod=1612 NA 14q32.33 NA NA NA NA rs72637122 0.34 0.34 0.341 0.332069 0.4672 0.3175 0.353 0.2141 0.3528 0.45 0.3 0.32 0.23 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742044 NA NA NA NA NA 0.239 NA 4.5328 1199 15 83561295 83561295 G A intronic HOMER2 NA NA NA intronic ENSG00000103942 NA NA NA NA NA 15q25.2 NA Name=eGFP-GATA2 NA NA rs7169401 0.35 0.35 0.33 0.374601 0.4672 0.1548 0.4179 0.354 0.5031 0.47 0.14 0.43 0.33 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527821 NA NA NA NA NA 0.37 NA 4.5328 1199 1 1900232 1900232 T C exonic KIAA1751 NA nonsynonymous SNV KIAA1751:NM_001080484:exon11:c.A1087G:p.I363V intergenic ENSG00000142609,ENSG00000142609 dist=2267;dist=19169 NA NA NA NA 1p36.33 NA NA NA NA rs16824588 0.41 0.41 0.389 0.38778 0.4314 0.3125 0.438 0.4312 0.3262 0.42 0.35 0.43 0.43 0.4226 0.45 1 T 0.001 B 0.001 B 0.061 N 1.000 P -1.01 N . . -0.921 T 0.000 T 0.011 -1.688 0.012 1.74 0.021 0.355 6.792 -1.688484 NA 0.7 0.447173 0.410433 NA 0.428 NA 4.5321604 1199 13 28642034 28642034 A G intronic FLT3 NA NA NA ncRNA_exonic ENSG00000271026 NA NA NA Score=259;Name=lod=15 NA 13q12.2 NA NA NA NA rs9513019 0.76 0.76 0.736 0.742212 0.8012 0.8284 0.7867 0.6029 0.7495 0.81 0.82 0.79 0.6 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.213593 NA NA NA NA NA 0.703 NA 4.5321333 1199 1 201013336 201013336 T C intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA Name=ZNF263,CTCF NA NA rs2297906 0.53 0.53 0.543 0.508187 0.4682 0.4177 0.3818 0.829 0.2986 0.46 0.43 0.43 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.68007 1.68007 NA NA NA NA 0.514 NA 4.5318 1199 6 73918987 73918987 C T intergenic KCNQ5,KHDC1L dist=10414;dist=14281 NA NA ncRNA_exonic ENSG00000251360 NA NA NA NA NA 6q13 Score=677;Name=V$P53_01 NA NA NA rs2350377 0.42 0.42 0.441 0.396765 0.4682 0.3621 0.3963 0.5008 0.2188 0.46 0.32 0.38 0.5 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.420276 1.420276 NA NA NA NA 0.543 NA 4.5318 1199 12 102357893 102357893 G T intergenic DRAM1,CCDC53 dist=40492;dist=48824 NA NA ncRNA_exonic ENSG00000258288 NA NA NA Score=530;Name=lod=190 NA 12q23.2 NA NA NA NA rs4764685 0.4 0.4 0.382 0.374601 0.4682 0.1081 0.5043 0.5189 0.2658 0.48 0.12 0.52 0.49 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152377 NA NA NA NA NA 0.355 NA 4.5318 1199 1 9011627 9011627 G A intronic CA6 NA NA NA exonic ENSG00000131686 NA synonymous SNV ENSG00000131686:ENST00000319474:exon3:c.G405A:p.T135T,ENSG00000131686:ENST00000480186:exon3:c.G405A:p.T135T NA NA 1p36.23 NA NA NA NA rs3765967 0.12 0.12 0.14 0.135783 0.1004 0.1726 0.0548 0.1619 0.1564 0.1 0.18 0.06 0.14 0.1041 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97312 NA NA 0.097187 0.144977 NA 0.123 NA 4.5316463 1199 5 149008403 149008403 A G exonic ARHGEF37 NA synonymous SNV ARHGEF37:NM_001001669:exon12:c.A1692G:p.L564L exonic ENSG00000183111 NA synonymous SNV ENSG00000183111:ENST00000333677:exon12:c.A1692G:p.L564L Score=422;Name=lod=69 NA 5q32 NA NA NA NA rs1056993 0.71 0.71 0.718 0.672125 0.7227 0.8363 0.549 0.5976 0.6391 0.73 0.84 0.61 0.61 0.6896 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980326 NA NA 0.722874 0.619941 ID=COSM449086;OCCURENCE=1(breast) 0.725 NA 4.5314926 1199 12 10525740 10525740 C T exonic KLRC4-KLRK1,KLRK1 NA synonymous SNV KLRK1:NM_007360:exon8:c.G624A:p.T208T,KLRC4-KLRK1:NM_001199805:exon13:c.G624A:p.T208T exonic ENSG00000213809 NA synonymous SNV ENSG00000213809:ENST00000540818:exon7:c.G624A:p.T208T,ENSG00000213809:ENST00000240618:exon8:c.G624A:p.T208T Score=381;Name=lod=47 NA 12p13.2 NA NA NA NA rs1049172 0.71 0.71 0.702 0.714457 0.7048 0.872 0.7723 0.4652 0.8579 0.7 0.89 0.74 0.5 0.7303 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856138 NA NA 0.700349 0.503404 NA 0.616 NA 4.5312176 1199 1 200965130 200965130 G T intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA Name=CTCF NA NA rs7531978 0.6 0.6 0.618 0.591454 0.4692 0.627 0.4669 0.8722 0.3896 0.46 0.65 0.47 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015634 NA NA NA NA NA 0.594 NA 4.5308 1199 2 113953657 113953657 A C intronic PSD4 NA NA NA intronic ENSG00000125637 NA NA NA NA NA 2q13 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs4849169 0.46 0.46 0.444 0.441094 0.4692 0.6508 0.5288 0.1838 0.4816 0.47 0.63 0.49 0.2 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34113 NA NA NA NA NA 0.428 NA 4.5308 1199 15 85191274 85191274 C G intronic WDR73 NA NA NA intronic ENSG00000177082 NA NA NA NA NA 15q25.2 NA Name=TAL1_(SC-12984),PU.1 NA NA rs7169629 0.58 0.58 0.593 0.580072 0.4692 0.8026 0.5043 0.5386 0.5746 0.47 0.8 0.47 0.56 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306301 NA NA NA NA NA 0.5 NA 4.5308 1199 10 20500592 20500592 T C intronic PLXDC2 NA NA NA intronic ENSG00000120594 NA NA NA Score=582;Name=lod=309 NA 10p12.31 NA NA NA NA rs16920092 0.28 0.28 0.285 0.277157 0.1402 0.4196 0.1787 0.4327 0.1309 0.14 0.42 0.15 0.43 0.1911 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.538374 2.538374 NA 0.138023 0.385611 NA 0.159 NA 4.530677 1199 6 105244526 105244526 A T intronic HACE1 NA NA NA intronic ENSG00000085382 NA NA NA Score=464;Name=lod=103 NA 6q16.3 NA Name=MafF_(M8194),MafK_(ab50322) NA NA rs6918700 0.55 0.55 0.545 0.558307 0.4831 0.4117 0.5259 0.8464 0.4202 0.51 0.41 0.53 0.79 0.5124 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570612 NA NA 0.473831 0.778711 NA 0.638 NA 4.530669 1199 9 115918306 115918306 G A intronic SLC31A2 NA NA NA intronic ENSG00000136867 NA NA NA NA NA 9q32 NA Name=YY1_(C-20),Max,YY1,c-Myc Name=18 NA rs10121117 0.4 0.4 0.412 0.386182 0.5169 0.1994 0.3977 0.4554 0.3425 0.52 0.23 0.41 0.41 0.4523 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04711 NA 0 0.500502 0.453767 NA 0.428 NA 4.530298 1199 1 43352894 43352894 C T intergenic ZNF691,SLC2A1 dist=34748;dist=38152 NA NA ncRNA_exonic ENSG00000233708 NA NA NA Score=588;Name=lod=328 NA 1p34.2 NA NA NA NA rs6600427 0.31 0.31 0.289 0.308107 0.4702 0.1925 0.2795 0.264 0.3405 0.47 0.18 0.31 0.23 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000354 NA NA NA NA NA 0.449 NA 4.5298 1199 5 167835766 167835766 T C intronic WWC1 NA NA NA intronic ENSG00000113645 NA NA NA NA NA 5q34 NA NA Name=15 NA rs6887919 0.63 0.63 0.638 0.641973 0.4702 0.7133 0.621 0.8396 0.4928 0.47 0.68 0.6 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23588 NA NA NA NA NA 0.587 NA 4.5298 1199 6 63937537 63937537 T C intergenic KHDRBS2,LGSN dist=941437;dist=48319 NA NA ncRNA_exonic ENSG00000219940 NA NA NA Score=682;Name=lod=788 NA 6q12 NA NA NA NA rs9343866 0.46 0.46 0.438 0.467652 0.4702 0.4534 0.5101 0.438 0.4898 0.47 0.44 0.45 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435358 NA NA NA NA NA 0.399 NA 4.5298 1199 13 111368316 111368316 C T exonic ING1 NA synonymous SNV ING1:NM_005537:exon1:c.C526T:p.L176L exonic ENSG00000153487 NA synonymous SNV ENSG00000153487:ENST00000375774:exon1:c.C526T:p.L176L NA NA 13q34 NA Name=TAF7_(SQ-8),Pol2,POU2F2,TAF1,CTCF,Oct-2,Pol2-4H8,Sin3Ak-20,TBP,CTCF_(C-20),NFKB,HEY1 NA NA rs9555726 0.6 0.6 0.584 0.58147 0.6909 0.7252 0.6816 0.23 0.7249 0.68 0.75 0.68 0.25 0.6955 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556218 NA NA 0.751075 0.392483 NA 0.507 NA 4.5291916 1199 2 130970911 130970911 A G intergenic TUBA3E,CCDC115 dist=14877;dist=124905 NA NA ncRNA_exonic ENSG00000230756 NA NA NA Score=574;Name=lod=286 NA 2q21.1 NA NA NA NA rs12471586 0.5 0.5 0.479 0.535343 0.4712 0.5675 0.5821 0.5484 0.5174 0.43 0.53 0.54 0.52 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232887 NA NA NA NA NA 0.138 NA 4.5288 1199 17 6653368 6653368 T C intergenic SLC13A5,XAF1 dist=36628;dist=5788 NA NA ncRNA_exonic ENSG00000244283 NA NA NA Score=726;Name=lod=1188 NA 17p13.1 NA NA NA NA rs2005153 0.6 0.6 0.62 0.631989 0.4712 0.7351 0.4971 0.8086 0.5481 0.46 0.74 0.48 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236399 NA NA NA NA NA 0.543 NA 4.5288 1199 17 42988959 42988959 T C intronic GFAP NA NA NA intronic ENSG00000131095 NA NA NA NA NA 17q21.31 NA NA NA NA rs2289671 0.45 0.45 0.453 0.420727 0.4712 0.3363 0.3761 0.5008 0.3793 0.47 0.37 0.43 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069882 NA NA NA NA NA 0.333 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056914.1;CLNDSDB=.;CLNDSDBID=. 4.5288 1199 17 19644472 19644472 A T exonic ALDH3A1 NA synonymous SNV ALDH3A1:NM_001135168:exon5:c.T741A:p.P247P,ALDH3A1:NM_000691:exon6:c.T741A:p.P247P,ALDH3A1:NM_001135167:exon6:c.T741A:p.P247P exonic ENSG00000108602 NA synonymous SNV ENSG00000108602:ENST00000426645:exon5:c.T711A:p.P237P,ENSG00000108602:ENST00000457500:exon5:c.T741A:p.P247P,ENSG00000108602:ENST00000494157:exon5:c.T522A:p.P174P,ENSG00000108602:ENST00000225740:exon6:c.T741A:p.P247P,ENSG00000108602:ENST00000395555:exon6:c.T741A:p.P247P,ENSG00000108602:ENST00000439102:exon6:c.T741A:p.P247P,ENSG00000108602:ENST00000444455:exon6:c.T741A:p.P247P,ENSG00000108602:ENST00000468746:exon6:c.T741A:p.P247P NA NA 17p11.2 NA NA NA NA rs2072330 0.31 0.31 0.296 0.290735 0.3907 0.2956 0.3934 0.0923 0.3783 0.4 0.33 0.38 0.11 0.3549 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029576 NA NA 0.392558 0.12483 NA 0.283 NA 4.5285086 1199 19 43439694 43439694 A G exonic PSG7 NA unknown UNKNOWN exonic ENSG00000221878 NA unknown UNKNOWN NA NA 19q13.31 NA NA NA NA rs113247044 0.14 0.14 0.117 0.139577 0.1531 0.0109 0.2277 0.1899 0.1278 0.15 0.04 0.2 0.2 0.1548 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.676828 NA NA 0.163837 0.217401 NA 0.174 NA 4.528263 1199 4 100052733 100052733 C A exonic ADH4 NA synonymous SNV ADH4:NM_000670:exon6:c.G765T:p.P255P exonic ENSG00000198099 NA synonymous SNV ENSG00000198099:ENST00000509471:exon2:c.G255T:p.P85P,ENSG00000198099:ENST00000265512:exon6:c.G765T:p.P255P,ENSG00000198099:ENST00000423445:exon6:c.G822T:p.P274P,ENSG00000198099:ENST00000505590:exon7:c.G822T:p.P274P,ENSG00000198099:ENST00000508393:exon7:c.G822T:p.P274P Score=378;Name=lod=46 NA 4q23 NA NA NA NA rs1126670 0.82 0.82 0.836 0.847244 0.6978 0.999 0.7709 0.8608 0.8804 0.7 1 0.76 0.84 0.7565 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188815 NA NA 0.684302 0.822969 NA 0.739 NA 4.5280646 1199 17 8416901 8416901 C T exonic MYH10 NA synonymous SNV MYH10:NM_005964:exon21:c.G2607A:p.T869T,MYH10:NM_001256095:exon22:c.G2634A:p.T878T,MYH10:NM_001256012:exon23:c.G2700A:p.T900T exonic ENSG00000133026 NA synonymous SNV ENSG00000133026:ENST00000269243:exon21:c.G2607A:p.T869T,ENSG00000133026:ENST00000379980:exon22:c.G2655A:p.T885T,ENSG00000133026:ENST00000396239:exon22:c.G2670A:p.T890T,ENSG00000133026:ENST00000360416:exon23:c.G2700A:p.T900T NA NA 17p13.1 NA NA NA NA rs11374 0.42 0.42 0.413 0.423323 0.3519 0.502 0.4323 0.3835 0.4632 0.36 0.49 0.38 0.46 0.4031 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872311 NA NA 0.383605 0.382433 ID=COSM1130107;OCCURENCE=1(prostate) 0.399 NA 4.5280616 1199 3 4025573 4025573 T C intergenic LRRN1,SETMAR dist=136186;dist=319415 NA NA ncRNA_exonic ENSG00000229241 NA NA NA Score=475;Name=lod=114 NA 3p26.1 NA NA NA NA rs9862263 0.31 0.31 0.299 0.275759 0.4722 0.1359 0.3314 0.2179 0.2566 0.49 0.15 0.37 0.2 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889606 NA NA NA NA NA 0.348 NA 4.5278 1199 14 22054398 22054398 C T intergenic OR10G3,OR10G2 dist=15523;dist=47668 NA NA ncRNA_exonic ENSG00000256081 NA NA NA Score=815;Name=lod=2727 NA 14q11.2 NA NA NA NA rs8022134 0.51 0.51 0.52 0.505192 0.4722 0.5893 0.4222 0.5265 0.4826 0.47 0.63 0.43 0.5 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030245 NA NA NA NA NA 0.464 NA 4.5278 1199 14 52781195 52781195 G A UTR5 PTGER2 NM_000956:c.-72G>A NA NA UTR5 ENSG00000125384 ENST00000557436:c.-837G>A,ENST00000245457:c.-72G>A NA NA NA NA 14q22.1 NA Name=HA-E2F1 NA NA rs1254598 0.53 0.53 0.555 0.48103 0.8062 0.372 0.5548 0.3396 0.3978 0.79 0.35 0.57 0.32 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929866 NA NA NA NA NA 0.42 NA 4.5271334 1199 9 139686357 139686357 T C intronic TMEM141 NA NA NA intronic ENSG00000244187 NA NA NA NA NA 9q34.3 NA Name=Rad21,CTCF,Znf143_(16618-1-AP),TAF7_(SQ-8),YY1_(C-20),SMC3_(ab9263),SP1,CTCF_(C-20),ZEB1_(SC-25388),TCF12,USF-1,CTCF_(SC-5916) Name=71 NA rs2784042 0.48 0.48 0.45 0.515974 0.4662 0.2659 0.5764 0.7095 0.5204 0.48 0.23 0.54 0.71 0.5061 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4759 NA NA 0.500581 0.6532 NA 0.464 NA 4.527119 1199 1 4834606 4834606 T C UTR3 AJAP1 NM_018836:c.*47T>C,NM_001042478:c.*47T>C NA NA UTR3 ENSG00000196581 ENST00000378190:c.*47T>C,ENST00000378191:c.*47T>C NA NA Score=663;Name=lod=660 NA 1p36.32 NA NA NA NA rs389959 0.16 0.16 0.163 0.158746 0.2674 0.0486 0.1758 0.1483 0.1626 0.27 0.02 0.19 0.14 0.2282 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4616 NA NA 0.310698 0.172719 NA 0.152 NA 4.5270354 1199 17 42984687 42984687 G C UTR3 GFAP NM_002055:c.*28C>G NA NA UTR3 ENSG00000131095 ENST00000253408:c.*28C>G,ENST00000588735:c.*28C>G NA NA NA NA 17q21.31 NA NA NA NA rs11558961 0.26 0.26 0.244 0.24381 0.2624 0.251 0.2291 0.2307 0.2454 0.27 0.28 0.26 0.21 0.267 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857435 NA NA 0.276977 0.237404 NA 0.167 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056816.1;CLNDSDB=.;CLNDSDBID=. 4.5269564 1199 14 39196641 39196641 T C intergenic CLEC14A,LINC00639 dist=471066;dist=21902 NA NA ncRNA_exonic ENSG00000258948 NA NA NA Score=715;Name=lod=1073 NA 14q21.1 NA NA NA NA rs12880789 0.53 0.53 0.512 0.510583 0.4732 0.4018 0.487 0.7474 0.3579 0.46 0.45 0.53 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88771 NA NA NA NA NA 0.551 NA 4.5268 1199 1 16890671 16890671 T C exonic NBPF1 NA unknown UNKNOWN exonic ENSG00000219481 NA nonsynonymous SNV ENSG00000219481:ENST00000430580:exon29:c.A3187G:p.M1063V NA NA 1p36.13 NA NA NA NA rs2419526 NA NA 0.506 0.546126 0.5885 0.5169 0.5591 0.5091 0.5736 NA NA NA NA 0.5523 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466702 NA 0.19 NA NA NA NA NA 4.5258667 1199 13 50935593 50935593 C T intergenic ST13P4,DLEU7 dist=187842;dist=351166 NA NA ncRNA_exonic ENSG00000223676 NA NA NA Score=673;Name=lod=724 NA 13q14.3 NA NA NA NA rs2812215 0.37 0.37 0.349 0.356629 0.4742 0.254 0.3199 0.329 0.4049 0.49 0.23 0.36 0.33 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476124 NA NA NA NA NA 0.406 NA 4.5258 1199 15 76084875 76084875 C T intergenic MIR4313,UBE2Q2 dist=30219;dist=50747 NA NA ncRNA_exonic ENSG00000261820 NA NA NA Score=649;Name=lod=579 NA 15q24.2 NA NA NA NA rs12708521 0.39 0.39 0.374 0.357628 0.4742 0.2411 0.3948 0.4183 0.2495 0.46 0.28 0.41 0.38 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072653 NA NA NA NA NA 0.319 NA 4.5258 1199 21 42817612 42817612 G A intronic MX1 NA NA NA intronic ENSG00000157601 NA NA NA NA NA 21q22.3 NA Name=Pol2,Pol2-4H8 NA NA rs469382 0.22 0.22 0.197 0.19349 0.4742 0.0069 0.2709 0.0378 0.2526 0.46 0.0017 0.28 0.05 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306849 NA NA NA NA NA 0.254 NA 4.5258 1199 14 22314877 22314877 T C intergenic OR4E2,DAD1 dist=180639;dist=718930 NA NA UTR5 ENSG00000211786 ENST00000390434:c.-67T>C NA NA NA NA 14q11.2 NA Name=CTCF NA NA rs9635202 0.27 0.27 0.262 0.28115 0.1481 0.372 0.2493 0.3064 0.3129 0.15 0.41 0.23 0.33 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537819 NA NA 0.159648 0.281069 NA 0.232 NA 4.5255854 1199 2 113875565 113875565 A G UTR5 IL1RN NM_000577:c.-31A>G,NM_173843:c.-9739A>G,NM_173841:c.-31A>G NA NA UTR5 ENSG00000136689 ENST00000361779:c.-9739A>G,ENST00000354115:c.-31A>G,ENST00000259206:c.-31A>G NA NA NA NA 2q13 NA Name=Pol2 NA NA rs2234678 0.18 0.18 0.146 0.185903 0.2903 0.1091 0.3213 0.0174 0.2894 0.29 0.09 0.31 0.02 0.2448 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55557 NA NA 0.272674 0.052429 NA 0.239 NA 4.5255594 1199 10 42833104 42833104 G A ncRNA_exonic LOC441666 NA NA NA ncRNA_exonic ENSG00000215146 NA NA NA NA NA 10q11.21 NA NA NA NA rs12262497 0.19 0.19 0.202 0.207668 0.1412 0.2202 0.1196 0.3313 0.1585 0.13 0.21 0.15 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.013686 NA NA NA NA NA 0.217 NA 4.5254666 1199 4 186423655 186423655 G A intronic PDLIM3 NA NA NA intronic ENSG00000154553 NA NA NA NA NA 4q35.1 NA NA Name=4 NA rs12644280 0.15 0.15 0.132 0.139177 0.1581 0.3085 0.1527 0.0182 0.0992 0.16 0.26 0.14 0.02 0.1563 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535246 NA NA 0.160233 0.04108 ID=COSN167380;OCCURENCE=1(large_intestine) 0.138 NA 4.525367 1199 2 113875584 113875584 G C UTR5 IL1RN NM_000577:c.-12G>C,NM_173843:c.-9720G>C,NM_173841:c.-12G>C NA NA UTR5 ENSG00000136689 ENST00000361779:c.-9720G>C,ENST00000354115:c.-12G>C,ENST00000259206:c.-12G>C NA NA NA NA 2q13 NA Name=Pol2 NA NA rs2234679 0.18 0.18 0.147 0.185903 0.2903 0.1091 0.3213 0.0174 0.2894 0.29 0.09 0.31 0.02 0.2448 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147954 NA NA 0.272907 0.052429 NA 0.239 NA 4.5253264 1199 19 5277888 5277888 C G intronic PTPRS NA NA NA ncRNA_exonic ENSG00000239524 NA NA NA Score=722;Name=lod=1144 NA 19p13.3 NA NA NA NA rs7250190 0.74 0.74 0.765 0.727835 0.8082 0.6935 0.6153 0.82 0.636 0.8 0.68 0.65 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309884 NA NA NA NA NA 0.754 NA 4.5251333 1200 7 97935671 97935671 C G intronic BAIAP2L1 NA NA NA intronic ENSG00000006453,ENSG00000164713 NA NA NA NA NA 7q21.3 NA NA Name=9 NA rs13232181 0.35 0.35 0.342 0.290735 0.4751 0.2629 0.353 0.2368 0.1585 0.47 0.24 0.38 0.28 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875826 NA NA NA NA NA 0.268 NA 4.5249 1200 14 91928992 91928992 T G intronic SMEK1 NA NA NA intronic ENSG00000100796 NA NA NA NA NA 14q32.12 NA NA Name=4 NA rs5020186 0.52 0.52 0.512 0.492412 0.4751 0.5159 0.5029 0.5265 0.4325 0.5 0.52 0.49 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151299 NA NA NA NA NA 0.442 NA 4.5249 1200 21 37660268 37660268 A G intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA Name=3 NA rs74949130 0.19 0.19 0.167 0.197284 0.163 0.3542 0.1297 0.1415 0.1943 0.17 0.32 0.13 0.13 0.1618 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091581 NA NA 0.150465 0.147072 NA 0.094 NA 4.524735 1200 7 142197613 142197613 T C intergenic LOC730441,MTRNR2L6 dist=225545;dist=176518 NA NA ncRNA_exonic ENSG00000241657 NA NA NA NA NA 7q34 NA NA Name=6 NA rs376535639 NA NA 0.236 NA NA NA NA NA NA NA NA NA NA 0.4754 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082813 NA NA NA NA NA NA NA 4.5246 1200 13 97537775 97537775 T C intergenic HS6ST3,LINC00359 dist=45959;dist=55760 NA NA ncRNA_exonic ENSG00000235137 NA NA NA Score=879;Name=lod=4968 NA 13q32.1 NA NA NA NA rs1854848 0.52 0.52 0.507 0.545327 0.4761 0.3601 0.5605 0.8154 0.4315 0.46 0.32 0.55 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008571 NA NA NA NA NA 0.652 NA 4.5239 1200 13 97537864 97537864 G A intergenic HS6ST3,LINC00359 dist=46048;dist=55671 NA NA ncRNA_exonic ENSG00000235137 NA NA NA Score=668;Name=lod=692 NA 13q32.1 NA NA NA NA rs1360438 0.53 0.53 0.54 0.558906 0.4761 0.3601 0.5634 0.8646 0.4325 0.46 0.32 0.56 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611856 NA NA NA NA NA 0.674 NA 4.5239 1200 22 21424385 21424385 G A intergenic LOC400891,BCRP2 dist=5928;dist=32920 NA NA ncRNA_exonic ENSG00000249680 NA NA NA Score=439;Name=lod=81 NA 22q11.21 NA NA NA NA rs383306 0.3 0.3 0.285 0.289337 0.4761 0.1111 0.3213 0.2133 0.3609 0.48 0.1 0.35 0.23 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447734 NA NA NA NA NA 0.362 NA 4.5239 1200 3 10107520 10107520 G T intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA Name=FOXA1_(C-20),GATA3_(SC-268) NA NA rs34608006 0.18 0.18 0.149 0.175319 0.1402 0.0476 0.1599 0.3396 0.1319 0.15 0.07 0.18 0.34 0.1729 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527516 1.527516 NA 0.163177 0.3064 NA 0.304 NA 4.523723 1200 17 79827163 79827163 C T intronic ARHGDIA NA NA NA intronic ENSG00000141522 NA NA NA NA NA 17q25.3 NA NA Name=135 NA rs113301975 0.13 0.13 0.096 0.10623 0.1531 0.1012 0.2161 0.0461 0.0665 0.16 0.12 0.19 0.06 0.1494 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253123 NA NA 0.175006 0.066954 NA 0.145 NA 4.522494 1200 6 397290 397290 T C intronic IRF4 NA NA NA intronic ENSG00000137265 NA NA NA NA NA 6p25.3 NA Name=POU2F2,Pol2,Pol2-4H8,Oct-2 NA NA rs1775589 0.31 0.31 0.288 0.320288 0.1461 0.5169 0.2983 0.329 0.3006 0.15 0.52 0.28 0.34 0.2092 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796972 NA NA 0.122558 0.299138 NA 0.268 NA 4.522142 1200 7 4189075 4189075 G C exonic SDK1 NA synonymous SNV SDK1:NM_001079653:exon4:c.G66C:p.A22A,SDK1:NM_152744:exon30:c.G4605C:p.A1535A exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon30:c.G4605C:p.A1535A,ENSG00000146555:ENST00000404826:exon30:c.G4605C:p.A1535A Score=422;Name=lod=69 NA 7p22.2 NA NA NA NA rs659182 0.78 0.78 0.773 0.786542 0.6918 0.7817 0.7738 0.9592 0.6646 0.7 0.75 0.77 0.96 0.759 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534717 NA NA 0.693837 0.927372 NA 0.812 NA 4.5220296 1200 20 4713176 4713176 A G ncRNA_exonic PRNT NA NA NA exonic ENSG00000180259 NA synonymous SNV ENSG00000180259:ENST00000326539:exon2:c.T147C:p.H49H,ENSG00000180259:ENST00000418528:exon2:c.T147C:p.H49H,ENSG00000180259:ENST00000423718:exon2:c.T147C:p.H49H NA NA 20p13 NA NA NA NA rs2735677 0.27 0.27 0.266 0.27496 0.1998 0.371 0.2147 0.2935 0.271 0.2 0.38 0.25 0.28 0.2337 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544669 NA NA 0.211163 0.256468 NA 0.181 NA 4.5220036 1200 5 172189805 172189805 T C intergenic NEURL1B,DUSP1 dist=71272;dist=5288 NA NA ncRNA_exonic ENSG00000213386 NA NA NA Score=730;Name=lod=1240 NA 5q35.1 NA NA NA NA rs322355 NA NA 0.385 0.441094 0.4781 0.5357 0.438 0.3661 0.409 NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166205 NA NA NA NA NA 0.341 NA 4.5219 1200 6 10514698 10514698 C T intergenic MIR5689,GCNT2 dist=74671;dist=6870 NA NA ncRNA_exonic ENSG00000216359,ENSG00000237685 NA NA NA Score=278;Name=lod=18 NA 6p24.3 NA NA NA NA rs511871 0.57 0.57 0.554 0.579473 0.4781 0.6508 0.5259 0.5726 0.6575 0.49 0.67 0.51 0.64 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.665671 NA NA NA NA NA 0.486 NA 4.5219 1200 21 42809206 42809206 A C intronic MX1 NA NA NA intronic ENSG00000157601 NA NA NA NA NA 21q22.3 NA Name=Pol2-4H8 NA NA rs468646 0.25 0.25 0.224 0.232228 0.4781 0.0099 0.2882 0.1694 0.2536 0.47 0.0017 0.31 0.18 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112046 NA NA NA NA NA 0.304 NA 4.5219 1200 2 160086692 160086692 A G exonic TANC1 NA synonymous SNV TANC1:NM_033394:exon27:c.A4755G:p.T1585T exonic ENSG00000115183 NA synonymous SNV ENSG00000115183:ENST00000454300:exon25:c.A4437G:p.T1479T,ENSG00000115183:ENST00000263635:exon27:c.A4755G:p.T1585T NA NA 2q24.2 NA NA NA NA rs3821296 0.46 0.46 0.419 0.478834 0.3718 0.6161 0.6023 0.3495 0.5348 0.37 0.62 0.54 0.37 0.4259 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321557 NA NA 0.347168 0.352023 NA 0.391 NA 4.5217986 1200 11 62293948 62293948 G A exonic AHNAK NA synonymous SNV AHNAK:NM_001620:exon5:c.C7941T:p.S2647S exonic ENSG00000124942 NA synonymous SNV ENSG00000124942:ENST00000378024:exon5:c.C7941T:p.S2647S Score=537;Name=lod=203 NA 11q12.3 NA NA NA NA rs486903 0.47 0.47 0.419 0.473043 0.7366 0.3046 0.6715 0.0779 0.7689 0.76 0.29 0.65 0.08 0.6638 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829206 NA NA 0.744941 0.193915 ID=COSM147262;OCCURENCE=1(stomach) 0.543 NA 4.5213256 1200 6 29857473 29857473 C T ncRNA_intronic HLA-H NA NA NA ncRNA_intronic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259257 0.07 0.07 0.09 0.0988419 0.0696 0.1131 0.0735 0.0764 0.1626 0.06 0.1 0.07 0.07 0.0761 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152233 NA NA NA NA NA NA NA 4.5209666 1200 5 118988306 118988306 C T intergenic FAM170A,PRR16 dist=16789;dist=811713 NA NA ncRNA_exonic ENSG00000250895 NA NA NA Score=787;Name=lod=2111 NA 5q23.1 NA NA NA NA rs170646 0.59 0.59 0.588 0.602037 0.4791 0.628 0.5 0.7352 0.5941 0.49 0.65 0.53 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096876 NA NA NA NA NA 0.507 NA 4.5209 1200 10 52486792 52486792 G A intergenic SGMS1,ASAH2B dist=103055;dist=12896 NA NA ncRNA_exonic ENSG00000213667 NA NA NA Score=775;Name=lod=1882 NA 10q11.23 NA NA NA NA rs10994179 0.41 0.41 0.367 0.366214 0.4791 0.4306 0.611 0.1293 0.3303 0.49 0.42 0.6 0.12 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140412 NA NA NA NA NA 0.449 NA 4.5209 1200 19 43349340 43349340 C A ncRNA_exonic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs3859463 0.09 0.09 0.046 0.124002 0.1461 0.003 0.2219 0.1475 0.1247 0.1 0.0035 0.17 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.033685 NA NA NA NA NA NA NA 4.5205666 1200 19 43349341 43349341 G A ncRNA_exonic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs3859464 0.09 0.09 0.052 0.124002 0.1461 0.003 0.2219 0.1475 0.1247 0.1 0.0035 0.17 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420084 NA NA NA NA NA NA NA 4.5205666 1200 22 42906679 42906679 C G ncRNA_exonic SERHL NA NA NA ncRNA_exonic ENSG00000172250 NA NA NA NA NA 22q13.2 NA NA NA NA rs1060166 0.09 0.09 0.059 0.076278 0.1461 0.003 0.1787 0.0575 0.0327 0.14 0.0017 0.19 0.04 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.314963 NA NA NA NA NA 0.167 NA 4.5205666 1200 22 24086107 24086107 A G exonic ZNF70 NA synonymous SNV ZNF70:NM_021916:exon2:c.T1221C:p.I407I exonic ENSG00000187792 NA synonymous SNV ENSG00000187792:ENST00000341976:exon2:c.T1221C:p.I407I NA NA 22q11.23 NA NA NA NA rs5759985 0.54 0.54 0.56 0.55651 0.3579 0.6865 0.4006 0.7927 0.4182 0.35 0.68 0.4 0.79 0.4259 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158169 NA NA 0.362326 0.740354 NA 0.536 NA 4.5205406 1200 14 58734282 58734282 G C ncRNA_intronic FLJ31306 NA NA NA ncRNA_intronic ENSG00000257621,ENSG00000258682 NA NA NA NA NA 14q23.1 NA NA NA NA rs35846334 0.02 0.02 0.012 0.0183706 0.0527 NA 0.0331 0.0015 0.0143 0.05 NA 0.04 NA 0.0424 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618256 NA NA 0.051144 0.009327 NA 0.036 NA 4.5204226 1200 1 236449502 236449502 A G intergenic ERO1LB,EDARADD dist=4163;dist=108178 NA NA ncRNA_exonic ENSG00000237922 NA NA NA Score=488;Name=lod=128 NA 1q42.3 NA NA NA NA rs576151 0.37 0.37 0.371 0.384185 0.4801 0.1438 0.4481 0.4024 0.4632 0.48 0.16 0.47 0.39 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490734 NA NA NA NA NA 0.42 NA 4.5199 1200 8 145623963 145623963 G A exonic CPSF1 NA synonymous SNV CPSF1:NM_013291:exon18:c.C1704T:p.D568D exonic ENSG00000071894 NA synonymous SNV ENSG00000071894:ENST00000349769:exon18:c.C1704T:p.D568D NA NA 8q24.3 NA NA NA NA rs4317614 0.43 0.43 0.42 0.459065 0.3668 0.6597 0.5 0.2383 0.6166 0.35 0.65 0.49 0.24 0.4228 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046275 NA NA 0.357326 0.26532 NA 0.362 NA 4.5197406 1200 8 141559358 141559358 G A exonic AGO2 NA synonymous SNV AGO2:NM_001164623:exon12:c.C1443T:p.A481A,AGO2:NM_012154:exon12:c.C1443T:p.A481A exonic ENSG00000123908 NA synonymous SNV ENSG00000123908:ENST00000220592:exon12:c.C1443T:p.A481A,ENSG00000123908:ENST00000519980:exon12:c.C1443T:p.A481A NA NA 8q24.3 NA NA NA NA rs2292781 0.44 0.44 0.426 0.472444 0.3429 0.5942 0.4856 0.4546 0.4949 0.34 0.59 0.48 0.4 0.4231 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981964 NA NA 0.38093 0.429382 NA 0.457 NA 4.5197366 1200 19 43349482 43349482 A G ncRNA_intronic PSG10P NA NA NA ncRNA_intronic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs1974521 0.12 0.12 0.098 0.140575 0.1471 0.003 0.2378 0.2005 0.1258 0.12 0.0035 0.2 0.19 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273012 NA NA NA NA NA 0.188 NA 4.5195666 1200 9 27455585 27455585 G A UTR5 MOB3B NM_024761:c.-37C>T NA NA UTR5 ENSG00000120162 ENST00000262244:c.-37C>T NA NA Score=431;Name=lod=75 NA 9p21.2 Score=941;Name=V$CETS1P54_01 NA NA NA rs10757661 0.6 0.6 0.636 0.625599 0.6292 0.6091 0.6326 0.6838 0.5552 0.58 0.58 0.57 0.66 0.6279 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.631933 2.631933 NA 0.55686 0.643668 NA 0.543 NA 4.5193734 1200 2 54714066 54714066 A G intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA NA Name=12 NA rs4671942 0.62 0.62 0.614 0.648962 0.4811 0.626 0.611 0.8585 0.589 0.49 0.62 0.59 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916958 NA NA NA NA NA 0.638 NA 4.5189 1200 12 6588972 6588972 A C intergenic VAMP1,MRPL51 dist=9129;dist=12344 NA NA ncRNA_exonic ENSG00000256913 NA NA NA Score=581;Name=lod=307 NA 12p13.31 NA NA NA NA rs2532514 0.53 0.53 0.51 0.525759 0.4811 0.7847 0.438 0.3971 0.5409 0.48 0.79 0.44 0.36 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541845 NA NA NA NA NA 0.478 NA 4.5189 1200 7 134879830 134879830 G A exonic WDR91 NA synonymous SNV WDR91:NM_014149:exon9:c.C1251T:p.D417D exonic ENSG00000105875 NA synonymous SNV ENSG00000105875:ENST00000344400:exon9:c.C1251T:p.D417D,ENSG00000105875:ENST00000354475:exon9:c.C1251T:p.D417D,ENSG00000105875:ENST00000423565:exon9:c.C1146T:p.D382D Score=444;Name=lod=85 NA 7q33 NA NA NA NA rs292575 0.66 0.66 0.629 0.655751 0.7078 0.6131 0.804 0.497 0.7556 0.72 0.59 0.8 0.53 0.7169 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110277 NA 0.25 0.723256 0.550613 NA 0.703 NA 4.5187106 1200 5 168620435 168620435 C A intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q35.1 NA NA Name=2 NA rs11744813 0.22 0.22 0.185 0.198682 0.1441 0.4464 0.2277 0.0779 0.1421 0.15 0.45 0.19 0.07 0.1899 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466841 NA NA 0.147326 0.096913 ID=COSN167639;OCCURENCE=1(large_intestine) 0.101 NA 4.518674 1200 6 24405357 24405357 A G intronic MRS2 NA NA NA intronic ENSG00000124532 NA NA NA NA NA 6p22.3 NA Name=USF-1 NA NA rs2273606 0.13 0.13 0.128 0.113419 0.1938 0.1488 0.0965 0.0038 0.1544 0.2 0.16 0.09 0.01 0.1444 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329466 NA NA 0.14314 0.029959 ID=COSN167704;OCCURENCE=1(large_intestine) 0.094 NA 4.51866 1200 7 142197606 142197606 T C intergenic LOC730441,MTRNR2L6 dist=225538;dist=176525 NA NA ncRNA_exonic ENSG00000241657 NA NA NA NA NA 7q34 NA NA Name=6 NA rs373222208 NA NA 0.262 NA NA NA NA NA NA NA NA NA NA 0.4814 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712951 NA NA NA NA NA NA NA 4.5186 1200 17 30367396 30367396 G A ncRNA_exonic SH3GL1P1 NA NA NA ncRNA_exonic ENSG00000266777 NA NA NA NA NA 17q11.2 NA NA NA NA rs72825748 0.07 0.07 0.071 0.0734824 0.1481 NA 0.0807 0.0061 0.1585 0.15 NA 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332193 NA NA NA NA NA 0.145 NA 4.5185666 1200 1 225611661 225611661 C T exonic LBR NA synonymous SNV LBR:NM_002296:exon2:c.G117A:p.V39V,LBR:NM_194442:exon2:c.G117A:p.V39V exonic ENSG00000143815 NA synonymous SNV ENSG00000143815:ENST00000272163:exon2:c.G117A:p.V39V,ENSG00000143815:ENST00000338179:exon2:c.G117A:p.V39V,ENSG00000143815:ENST00000421383:exon2:c.G117A:p.V39V,ENSG00000143815:ENST00000425080:exon2:c.G117A:p.V39V Score=449;Name=lod=89 NA 1q42.12 NA NA NA NA rs1056607 0.73 0.73 0.69 0.657149 0.7058 0.744 0.7839 0.6286 0.4663 0.71 0.78 0.77 0.66 0.7112 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284182 1.284182 NA 0.731279 0.635951 NA 0.674 NA 4.5183876 1200 3 183801557 183801557 T C intergenic HTR3C,HTR3E dist=23096;dist=13295 NA NA ncRNA_exonic ENSG00000233576 NA NA NA Score=478;Name=lod=117 NA 3q27.1 NA NA NA NA rs9845948 0.58 0.58 0.58 0.544728 0.4821 0.7312 0.5346 0.6014 0.3476 0.48 0.74 0.56 0.55 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944216 NA NA NA NA NA 0.551 NA 4.5179 1200 10 6504126 6504126 T C intronic PRKCQ NA NA NA intronic ENSG00000065675 NA NA NA NA NA 10p15.1 NA NA Name=20 NA rs604663 0.47 0.47 0.466 0.430112 0.4821 0.5169 0.4035 0.3903 0.3599 0.48 0.54 0.38 0.44 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264808 NA NA NA NA NA 0.449 NA 4.5179 1200 10 6504136 6504136 C G intronic PRKCQ NA NA NA intronic ENSG00000065675 NA NA NA NA NA 10p15.1 NA NA Name=20 NA rs678304 0.47 0.47 0.47 0.429912 0.4821 0.5169 0.402 0.3903 0.3599 0.48 0.54 0.38 0.44 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101561 NA NA NA NA NA 0.449 NA 4.5179 1200 2 90121926 90121926 G T intergenic MIR4436A,LOC654342 dist=1009958;dist=1702783 NA NA exonic ENSG00000242766 NA nonsynonymous SNV ENSG00000242766:ENST00000483379:exon2:c.G144T:p.R48S NA NA 2p11.2 NA NA NA NA rs1852249 NA NA 0.135 0.24381 0.1054 0.2579 0.2161 0.354 0.2423 NA NA NA NA 0.2103 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.03632 NA NA NA NA ID=COSN166182;OCCURENCE=1(breast) NA NA 4.5176334 1200 19 54754865 54754865 A G intronic LILRB5 NA NA NA exonic ENSG00000105609 NA synonymous SNV ENSG00000105609:ENST00000450632:exon13:c.T1770C:p.L590L NA NA 19q13.42 NA NA NA NA rs62133136 0.1 0.1 0.078 0.0890575 0.1759 0.0129 0.1643 0.0287 0.1063 0.17 0.01 0.2 0.02 0.1398 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361065 NA NA NA NA NA 0.036 NA 4.5176333 1200 2 79364374 79364374 C G ncRNA_exonic REG1P NA NA NA ncRNA_exonic ENSG00000204787 NA NA NA NA NA 2p12 NA NA NA NA rs11678299 0.14 0.14 0.117 0.120008 0.1491 0.1935 0.1599 0.034 0.1022 0.16 0.2 0.14 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197586 NA NA NA NA ID=COSN166148;OCCURENCE=1(breast) 0.13 NA 4.5175666 1200 2 79364397 79364397 G A ncRNA_exonic REG1P NA NA NA ncRNA_exonic ENSG00000204787 NA NA NA NA NA 2p12 NA NA NA NA rs3819317 0.14 0.14 0.115 0.11861 0.1491 0.1925 0.1585 0.034 0.0971 0.16 0.2 0.14 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551068 NA NA NA NA ID=COSN166149;OCCURENCE=1(breast) 0.123 NA 4.5175666 1200 6 30573842 30573842 T C intronic PPP1R10 NA NA NA intronic ENSG00000204569 NA NA NA NA NA 6p21.33 NA NA Name=6 NA rs9262122 0.11 0.11 0.088 0.109425 0.1769 0.0605 0.1527 0.0091 0.1953 0.18 0.08 0.14 0.02 0.15 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904507 NA NA 0.15593 0.029732 NA 0.094 NA 4.51717 1200 22 46790029 46790029 G T intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA Name=3 NA rs11703679 0.24 0.24 0.281 0.268371 0.1571 0.0129 0.1369 0.7307 0.1145 0.15 0.01 0.15 0.72 0.1761 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886999 NA NA 0.149884 0.657512 NA 0.254 NA 4.516916 1200 1 9171238 9171238 G T intronic GPR157 NA NA NA intronic ENSG00000180758 NA NA NA NA NA 1p36.23 NA Name=ZNF263,GATA-2 NA NA rs12135666 0.17 0.17 0.142 0.147364 0.2137 0.1915 0.268 0.0113 0.1319 0.22 0.19 0.24 0.02 0.2697 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468104 NA NA NA NA NA 0.152 NA 4.5166 1200 3 146177815 146177815 C T exonic PLSCR2 NA synonymous SNV PLSCR2:NM_001199979:exon2:c.G84A:p.Q28Q,PLSCR2:NM_001199978:exon4:c.G96A:p.Q32Q exonic ENSG00000163746 NA synonymous SNV ENSG00000163746:ENST00000497985:exon4:c.G96A:p.Q32Q NA NA 3q24 NA NA NA NA rs6806535 0.52 0.52 0.503 0.527556 0.5636 0.6062 0.5865 0.2625 0.726 0.57 0.62 0.55 0.29 0.5865 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544962 NA NA NA NA NA 0.536 NA 4.5165666 1200 19 43351852 43351852 T G ncRNA_intronic PSG10P NA NA NA ncRNA_intronic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs58312895 0.13 0.13 NA 0.140176 0.1501 0.003 0.2378 0.1967 0.1258 0.14 0.0017 0.2 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517037 NA NA NA NA NA NA NA 4.5165666 1200 19 43351853 43351853 G A ncRNA_intronic PSG10P NA NA NA ncRNA_intronic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs61209097 0.13 0.13 NA 0.140176 0.1501 0.003 0.2378 0.1967 0.1258 0.14 0.0017 0.2 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785432 NA NA NA NA NA NA NA 4.5165666 1200 19 43352117 43352117 T C ncRNA_intronic PSG10P NA NA NA ncRNA_intronic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs60911559 0.14 0.14 0.088 0.1248 0.1501 0.003 0.2262 0.1445 0.1258 0.16 0.0017 0.22 0.2 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453556 NA NA NA NA NA 0.08 NA 4.5165666 1200 19 43352212 43352212 A T ncRNA_intronic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs60236304 0.14 0.14 0.102 0.1248 0.1501 0.003 0.2262 0.1445 0.1258 0.16 0.0017 0.22 0.2 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072553 NA NA NA NA NA 0.188 NA 4.5165666 1200 19 43352307 43352307 A G ncRNA_intronic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs112536177 0.11 0.11 0.086 0.0994409 0.1501 0.003 0.2176 0.053 0.1258 0.16 0.0017 0.21 0.08 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19325 NA NA NA NA NA 0.167 NA 4.5165666 1200 19 43357934 43357934 T C ncRNA_intronic PSG10P NA NA NA ncRNA_intronic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs8103674 0.11 0.11 0.078 0.0994409 0.1501 0.003 0.2176 0.053 0.1258 0.16 0.0017 0.21 0.08 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080939 NA NA NA NA NA 0.087 NA 4.5165666 1200 19 43358418 43358418 G A ncRNA_exonic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs10408339 0.17 0.17 0.141 0.163139 0.1501 0.003 0.2421 0.2814 0.1258 0.16 0.0017 0.25 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162992 NA NA NA NA NA 0.087 NA 4.5165666 1200 19 43359859 43359859 T G ncRNA_exonic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs10469289 0.11 0.11 0.081 0.107228 0.1501 0.003 0.2205 0.0809 0.1258 0.16 0.0017 0.21 0.09 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02871 NA NA NA NA NA 0.167 NA 4.5165666 1200 22 42899151 42899151 G A ncRNA_intronic SERHL NA NA NA ncRNA_intronic ENSG00000172250 NA NA NA NA NA 22q13.2 NA NA NA NA rs41276327 0.13 0.13 0.076 0.0854633 0.1501 0.003 0.1787 0.0809 0.044 0.16 0.02 0.21 0.13 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51008 NA NA NA NA NA 0.072 NA 4.5165666 1200 11 118997869 118997869 C T intronic HINFP NA NA NA intronic ENSG00000172273 NA NA NA NA NA 11q23.3 NA Name=ZNF263 Name=8 NA rs547345 0.45 0.45 0.444 0.419329 0.4712 0.1002 0.6427 0.6505 0.2239 0.48 0.12 0.59 0.68 0.5097 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68547 NA NA 0.502561 0.642273 NA 0.464 NA 4.516539 1200 4 134046253 134046253 C T intergenic NONE,PCDH10 dist=NONE;dist=24217 NA NA ncRNA_exonic ENSG00000248735 NA NA NA Score=401;Name=lod=57 NA 4q28.3 NA NA NA NA rs13134791 0.47 0.47 0.455 0.475639 0.4841 0.3433 0.5447 0.5764 0.4182 0.47 0.36 0.52 0.55 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433819 NA NA NA NA NA 0.565 NA 4.5159 1200 12 62931083 62931083 C G intronic MON2 NA NA NA intronic ENSG00000061987 NA NA NA NA NA 12q14.1 NA NA Name=2 NA rs73141045 0.09 0.09 0.095 0.0746805 0.1799 0.0159 0.1052 0.0182 0.0818 0.18 0.01 0.12 0.03 0.1331 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.625795 NA NA 0.171163 0.044939 NA 0.167 NA 4.515837 1200 11 1947789 1947789 G A intronic TNNT3 NA NA NA intronic ENSG00000130595 NA NA NA NA NA 11p15.5 NA Name=E2F6 NA NA rs6578952 0.2 0.2 0.194 0.189097 0.2425 0.1101 0.1571 0.2027 0.2198 0.26 0.1 0.17 0.23 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576998 NA NA 0.241672 0.20448 NA 0.261 NA 4.515828 1200 3 194476459 194476459 T C ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA NA NA 3q29 NA NA NA NA rs3890435 0.29 0.29 0.3 0.333866 0.1511 0.3393 0.183 0.587 0.2812 0.15 0.33 0.17 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105733 NA NA NA NA NA 0.217 NA 4.5155666 1200 3 194477034 194477034 C T ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA NA NA 3q29 NA NA NA NA rs7613463 0.29 0.29 0.313 0.335264 0.1511 0.3353 0.1844 0.5946 0.2812 0.15 0.33 0.17 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72722 NA NA NA NA NA 0.232 NA 4.5155666 1200 9 97109940 97109940 C T ncRNA_intronic LOC100132077 NA NA NA ncRNA_intronic ENSG00000232063 NA NA NA NA NA 9q22.32 NA NA NA NA rs6479536 0.15 0.15 0.136 0.177716 0.1511 0.0496 0.1441 0.2837 0.2178 0.13 0.07 0.15 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695833 NA NA NA NA NA 0.065 NA 4.5155666 1200 19 43351680 43351680 T C ncRNA_intronic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs117148062 0.11 0.11 0.081 0.103435 0.1511 0.004 0.219 0.0613 0.1319 0.15 0.0017 0.21 0.11 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83126 NA NA NA NA NA 0.174 NA 4.5155666 1200 1 109836842 109836842 C G UTR3 MYBPHL NM_001265613:c.*19G>C,NM_001010985:c.*19G>C NA NA UTR3 ENSG00000221986 ENST00000357155:c.*19G>C NA NA NA NA 1p13.3 NA Name=ELF1_(SC-631) Name=61 NA rs646335 0.55 0.55 0.536 0.522764 0.6074 0.5357 0.5879 0.4531 0.4703 0.59 0.53 0.64 0.45 0.5862 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457972 NA NA 0.624535 0.473218 NA 0.428 NA 4.5151984 1201 13 25562904 25562904 A G intergenic TPTE2P1,PABPC3 dist=20297;dist=107372 NA NA ncRNA_exonic ENSG00000232858 NA NA NA Score=707;Name=lod=998 NA 13q12.13 NA NA NA NA rs11620162 0.37 0.37 0.34 0.323882 0.4851 0.2877 0.4568 0.1483 0.3384 0.49 0.32 0.46 0.16 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637221 1.637221 NA NA NA NA 0.333 NA 4.5149 1201 19 55033164 55033164 C T intergenic LAIR2,KIR3DX1 dist=11264;dist=10745 NA NA ncRNA_exonic ENSG00000213016 NA NA NA NA NA 19q13.42 NA Name=NFKB,EBF,BATF NA NA rs55876529 0.38 0.38 0.334 0.356629 0.4851 0.4544 0.304 0.1543 0.4346 0.47 0.45 0.36 0.15 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659145 NA NA NA NA NA 0.399 NA 4.5149 1201 13 46277016 46277016 A G intronic SPERT NA NA NA intronic ENSG00000174015 NA NA NA NA NA 13q14.13 Score=828;Name=V$CDC5_01 NA NA NA rs755428 0.13 0.13 0.124 0.132388 0.1779 0.0089 0.121 0.1989 0.1309 0.17 0.0017 0.13 0.22 0.1469 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.242601 1.242601 NA 0.160349 0.205629 NA 0.101 NA 4.514851 1201 6 29693938 29693938 G A intronic HLA-F NA NA NA intronic ENSG00000204642 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs2735061 0.11 0.11 0.102 0.0944489 0.1809 0.0437 0.1282 0.0545 0.0879 0.16 0.05 0.14 0.08 0.136 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.080553 NA NA 0.168257 0.069635 NA 0.058 NA 4.514843 1201 7 150878260 150878260 C G exonic ASB10 NA synonymous SNV ASB10:NM_001142459:exon3:c.G870C:p.A290A,ASB10:NM_001142460:exon3:c.G870C:p.A290A,ASB10:NM_080871:exon3:c.G825C:p.A275A exonic ENSG00000146926 NA synonymous SNV ENSG00000146926:ENST00000275838:exon3:c.G870C:p.A290A,ENSG00000146926:ENST00000377867:exon3:c.G825C:p.A275A,ENSG00000146926:ENST00000420175:exon3:c.G870C:p.A290A,ENSG00000146926:ENST00000422024:exon3:c.G1005C:p.A335A,ENSG00000146926:ENST00000434669:exon3:c.G1005C:p.A335A NA NA 7q36.1 NA NA NA NA rs2253592 0.51 0.51 0.505 0.503794 0.3757 0.5486 0.4467 0.7791 0.2577 0.39 0.52 0.44 0.76 0.408 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327949 NA NA 0.368219 0.708087 NA 0.551 NA 4.5147476 1201 8 134062266 134062266 A G intronic SLA,TG NA NA NA intronic ENSG00000042832,ENSG00000155926 NA NA NA NA NA 8q24.22 NA Name=BAF155,GR,p300_(N-15),c-Fos NA NA rs2687836 0.25 0.25 0.219 0.275958 0.1342 0.5288 0.2839 0.0961 0.3988 0.12 0.56 0.26 0.09 0.2166 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167849 NA NA 0.134535 0.085565 NA 0.167 NA 4.514665 1201 2 29135468 29135468 C G exonic WDR43 NA synonymous SNV WDR43:NM_015131:exon4:c.C498G:p.G166G exonic ENSG00000163811 NA synonymous SNV ENSG00000163811:ENST00000407426:exon4:c.C498G:p.G166G,ENSG00000163811:ENST00000440983:exon4:c.C231G:p.G77G NA NA 2p23.2 Score=853;Name=V$OCT1_05 NA NA NA rs6715296 0.71 0.71 0.68 0.699281 0.7048 0.8591 0.7622 0.5166 0.7311 0.69 0.87 0.73 0.53 0.7265 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536176 NA NA 0.720717 0.569095 NA 0.616 NA 4.5146496 1201 3 194476816 194476816 C T ncRNA_intronic LOC100507391 NA NA NA ncRNA_exonic ENSG00000234805 NA NA NA NA NA 3q29 NA NA NA NA rs7613256 0.3 0.3 0.329 0.342252 0.1521 0.3433 0.1844 0.6142 0.2812 0.15 0.33 0.17 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.340752 NA NA NA NA NA 0.246 NA 4.5145666 1201 6 150240083 150240083 T C ncRNA_intronic LOC100652739 NA NA NA ncRNA_UTR3 ENSG00000203722 NA NA NA NA NA 6q25.1 NA NA NA NA rs9383944 0.3 0.3 0.303 0.31849 0.1521 0.5367 0.1326 0.4365 0.2372 0.13 0.54 0.16 0.39 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302132 NA NA NA NA NA 0.362 NA 4.5145666 1201 1 43906896 43906896 A G exonic SZT2 NA synonymous SNV SZT2:NM_015284:exon52:c.A7185G:p.E2395E exonic ENSG00000198198 NA synonymous SNV ENSG00000198198:ENST00000372442:exon38:c.A4659G:p.E1553E,ENSG00000198198:ENST00000562955:exon52:c.A7185G:p.E2395E NA NA 1p34.2 NA NA NA NA rs2027130 0.26 0.26 0.219 0.196286 0.4205 0.0823 0.3847 0.0885 0.0951 0.42 0.08 0.41 0.1 0.3184 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861619 NA NA 0.413372 0.133 NA 0.355 NA 4.5143946 1201 6 29856546 29856546 G T ncRNA_intronic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs55682221 0.09 0.09 0.048 0.104633 0.0636 0.2411 0.0476 0.0023 0.1851 0.07 0.21 0.06 0.01 0.0887 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739912 NA NA NA NA NA 0.116 NA 4.5143666 1201 4 175237408 175237408 T C exonic CEP44 NA synonymous SNV CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T exonic ENSG00000164118 NA synonymous SNV ENSG00000164118:ENST00000296519:exon8:c.T1053C:p.T351T,ENSG00000164118:ENST00000426172:exon8:c.T1053C:p.T351T,ENSG00000164118:ENST00000396791:exon10:c.T1053C:p.T351T,ENSG00000164118:ENST00000457424:exon10:c.T1053C:p.T351T,ENSG00000164118:ENST00000503780:exon10:c.T1053C:p.T351T NA NA 4q34.1 Score=789;Name=V$CART1_01 NA NA NA rs1553669 0.7 0.7 0.69 0.686502 0.7366 0.744 0.5605 0.702 0.6442 0.73 0.74 0.57 0.69 0.686 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.776354 NA NA 0.729884 0.699728 ID=COSM149763;OCCURENCE=1(stomach) 0.681 NA 4.5141826 1201 3 162319458 162319458 A G intergenic OTOL1,CT64 dist=1097728;dist=575573 NA NA ncRNA_exonic ENSG00000243044 NA NA NA Score=295;Name=lod=21 NA 3q26.1 NA NA NA NA rs7430269 0.37 0.37 0.342 0.394369 0.4861 0.2619 0.4755 0.3525 0.4356 0.47 0.23 0.43 0.32 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277626 NA NA NA NA NA 0.486 NA 4.5139 1201 17 45128742 45128742 T G intergenic RPRML,CDC27 dist=72128;dist=66569 NA NA ncRNA_exonic ENSG00000263142 NA NA NA NA NA 17q21.32 Score=797;Name=V$CART1_01 NA NA NA rs1056066 0.41 0.41 0.21 0.43131 0.4861 0.3482 0.4986 0.3593 0.5102 0.47 0.36 0.49 0.33 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171087 NA NA NA NA NA 0.036 NA 4.5139 1201 1 109740548 109740548 G T intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA Name=2 NA rs2296696 0.33 0.33 0.327 0.34405 0.2435 0.5109 0.2738 0.2746 0.4192 0.23 0.54 0.25 0.29 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.69988 2.69988 NA 0.242929 0.242775 NA 0.326 NA 4.513571 1201 19 55221669 55221669 C G ncRNA_exonic LILRP2 NA NA NA ncRNA_intronic ENSG00000170858,ENSG00000240258 NA NA NA NA NA 19q13.42 NA NA NA NA rs2075036 0.22 0.22 0.175 0.250599 0.1531 0.2421 0.2003 0.4259 0.1585 0.15 0.21 0.18 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494699 NA NA NA NA NA 0.181 NA 4.5135666 1201 2 96034363 96034363 G A intronic KCNIP3 NA NA NA ncRNA_exonic ENSG00000235129 NA NA NA Score=574;Name=lod=288 NA 2q11.1 NA NA NA NA rs2320432 0.8 0.8 0.798 0.774361 0.8201 0.7718 0.8357 0.7254 0.7526 0.81 0.79 0.85 0.74 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137766 NA NA NA NA NA 0.725 NA 4.5132333 1201 2 203705787 203705787 G C intronic ICA1L NA NA NA ncRNA_exonic ENSG00000233579 NA NA NA Score=662;Name=lod=652 NA 2q33.2 NA NA NA NA rs1971819 0.8 0.8 0.795 0.820687 0.8201 0.9127 0.8098 0.6755 0.9305 0.81 0.9 0.78 0.66 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410091 NA NA NA NA NA 0.833 NA 4.5132333 1201 20 25349120 25349120 T C intronic ABHD12 NA NA NA ncRNA_exonic ENSG00000227379 NA NA NA Score=678;Name=lod=760 NA 20p11.21 NA NA NA NA rs2500395 0.8 0.8 0.795 0.839856 0.8201 0.6538 0.8703 0.9493 0.8824 0.82 0.66 0.83 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489683 NA NA NA NA NA 0.891 NA 4.5132333 1201 20 31024274 31024274 T C exonic ASXL1 NA synonymous SNV ASXL1:NM_015338:exon12:c.T3759C:p.S1253S exonic ENSG00000171456 NA synonymous SNV ENSG00000171456:ENST00000306058:exon12:c.T3744C:p.S1248S,ENSG00000171456:ENST00000375687:exon13:c.T3759C:p.S1253S NA NA 20q11.21 NA NA NA NA rs4911231 0.42 0.42 0.39 0.405751 0.3499 0.7411 0.4294 0.1664 0.4243 0.36 0.74 0.37 0.17 0.4183 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.386827 1.386827 NA 0.385581 0.192238 NA 0.21 NA 4.5128856 1201 12 7649484 7649484 T C exonic CD163 NA nonsynonymous SNV CD163:NM_004244:exon5:c.A1024G:p.I342V,CD163:NM_203416:exon5:c.A1024G:p.I342V exonic ENSG00000177575 NA nonsynonymous SNV ENSG00000177575:ENST00000359156:exon5:c.A1024G:p.I342V,ENSG00000177575:ENST00000396620:exon5:c.A1024G:p.I342V,ENSG00000177575:ENST00000432237:exon5:c.A1024G:p.I342V,ENSG00000177575:ENST00000541972:exon5:c.A988G:p.I330V NA NA 12p13.31 NA NA NA NA rs4883263 0.79 0.79 0.774 0.76258 0.9662 0.6905 0.8487 0.5628 0.8364 0.97 0.7 0.85 0.6 0.887 0.97 0.09 T 0.004 B 0.007 B 0.033 N 1.000 P 0.96 L 1.31 T -1.020 T 0.000 T 0.035 0.253 5.366 -1.5 -0.925 -0.207 11.112 0.252828 NA 0.17 0.967907 0.626192 NA 0.71 NA 4.5122264 1201 3 9788168 9788168 C T intronic BRPF1 NA NA NA intronic ENSG00000156983 NA NA NA NA NA 3p25.3 NA NA Name=88 NA rs2269112 0.13 0.13 0.118 0.144968 0.1521 0.1657 0.1585 0.0174 0.2791 0.15 0.17 0.17 0.02 0.162 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.266649 NA NA 0.173721 0.036768 NA 0.188 NA 4.512179 1201 1 1582202 1582202 C T intronic CDK11B NA NA NA intronic ENSG00000248333 NA NA NA NA NA 1p36.33 NA NA Name=7 NA rs61774918 NA NA 0.401 0.440296 0.4881 0.4573 0.4841 0.3502 0.4642 NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058269 NA NA NA NA NA 0.043 NA 4.5119 1201 9 20620575 20620575 G A intronic MLLT3 NA NA NA intronic ENSG00000171843 NA NA NA NA NA 9p21.3 NA NA Name=99 NA rs2073855 0.47 0.47 0.482 0.438698 0.4881 0.4454 0.4726 0.3215 0.5153 0.51 0.47 0.49 0.39 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.001183 4.001183 NA NA NA NA 0.464 NA 4.5119 1201 12 653984 653984 T C intronic B4GALNT3 NA NA NA intronic ENSG00000139044 NA NA NA NA NA 12p13.33 NA NA Name=3 NA rs1008587 0.52 0.52 0.565 0.526358 0.4881 0.631 0.3631 0.5582 0.5307 0.48 0.6 0.41 0.59 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030923 NA NA NA NA NA 0.601 NA 4.5119 1201 3 158539961 158539961 G A intronic MFSD1 NA NA NA intronic ENSG00000118855 NA NA NA NA NA 3q25.32 NA NA Name=2 NA rs6793618 0.16 0.16 0.161 0.182708 0.166 0.0337 0.1326 0.3018 0.228 0.16 0.03 0.17 0.3 0.1614 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711426 NA NA 0.161395 0.26759 NA 0.145 NA 4.511205 1201 1 160141286 160141286 C G intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA Name=39 NA rs625129 0.49 0.49 0.476 0.519169 0.4891 0.5615 0.5648 0.5696 0.4059 0.44 0.52 0.53 0.52 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130124 NA NA NA NA NA 0.174 NA 4.5109 1201 3 142895953 142895953 A T intergenic CHST2,SLC9A9 dist=53097;dist=88111 NA NA ncRNA_exonic ENSG00000244171 NA NA NA Score=831;Name=lod=3187 NA 3q24 NA NA NA NA rs9825493 0.55 0.55 0.495 0.543331 0.4891 0.6895 0.5778 0.5514 0.4131 0.48 0.66 0.55 0.55 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576324 NA NA NA NA NA 0.486 NA 4.5109 1201 14 23854324 23854324 A G intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 Score=830;Name=V$NKX61_01 NA NA NA rs178638 0.48 0.48 0.503 0.488019 0.4891 0.254 0.366 0.7474 0.4642 0.5 0.28 0.42 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177833 NA NA NA NA NA 0.42 NA 4.5109 1201 10 97447487 97447487 T A intronic TCTN3 NA NA NA intronic ENSG00000119977 NA NA NA Score=517;Name=lod=169 NA 10q24.1 NA NA NA NA rs11188434 0.18 0.18 0.185 0.195288 0.172 0.1429 0.1369 0.2988 0.1748 0.16 0.13 0.16 0.25 0.1629 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.657283 3.657283 NA 0.154535 0.279846 NA 0.167 NA 4.510565 1201 2 86332809 86332809 G A intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA Score=596;Name=lod=354 NA 2p11.2 NA Name=Znf143_(16618-1-AP),ETS1,TAF1,USF2,Mxi1_(bHLH),Pol2,ERalpha_a,Pol2-4H8,BCLAF1_(M33-P5B11),Sin3Ak-20,HA-E2F1,YY1_(C-20),NFKB,BAF170,c-Myc,SIX5,CTCF Name=148 NA rs4832245 0.69 0.69 0.662 0.677716 0.84 0.6558 0.8271 0.3873 0.82 0.84 0.67 0.85 0.36 0.8015 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.599027 NA NA 0.84809 0.488712 NA 0.71 NA 4.51041 1201 12 57919107 57919107 C T intronic MBD6 NA NA NA intronic ENSG00000166987 NA NA NA Score=259;Name=lod=15 NA 12q13.3 NA NA NA NA rs1148554 0.21 0.21 0.208 0.202077 0.175 0.245 0.1398 0.2443 0.1728 0.18 0.25 0.14 0.26 0.1715 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488822 NA NA 0.143156 0.220027 NA 0.203 NA 4.510344 1201 1 50792138 50792138 C T intergenic ELAVL4,DMRTA2 dist=124598;dist=91085 NA NA ncRNA_exonic ENSG00000234080 NA NA NA Score=809;Name=lod=2582 NA 1p32.3 NA NA NA NA rs6702615 0.39 0.39 0.398 0.41254 0.4901 0.129 0.3343 0.587 0.4448 0.47 0.12 0.38 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144501 NA NA NA NA NA 0.362 NA 4.5099 1201 1 9781412 9781412 C G intronic PIK3CD NA NA NA intronic ENSG00000171608 NA NA NA NA NA 1p36.22 NA NA Name=4 NA rs12735071 0.23 0.23 0.234 0.178315 0.4911 0.002 0.2882 0.0439 0.1421 0.48 0.0017 0.33 0.04 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.435834 1.435834 NA NA NA NA 0.203 NA 4.5089 1201 8 11787010 11787010 A G intergenic CTSB,DEFB136 dist=61364;dist=44436 NA NA ncRNA_exonic ENSG00000206014 NA NA NA Score=259;Name=lod=15 NA 8p23.1 NA NA NA NA rs34937417 NA NA 0.383 0.446685 0.4911 0.63 0.5159 0.1868 0.5143 NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223043 NA NA NA NA NA 0.196 NA 4.5089 1201 8 80483555 80483555 T C intergenic IL7,STMN2 dist=765797;dist=39494 NA NA ncRNA_exonic ENSG00000240540 NA NA NA Score=835;Name=lod=3305 NA 8q21.13 NA NA NA NA rs10090686 0.38 0.38 0.393 0.408946 0.4911 0.122 0.3343 0.5575 0.4724 0.48 0.11 0.36 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13808 NA NA NA NA NA 0.406 NA 4.5089 1201 11 20676253 20676253 T C intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA Score=536;Name=lod=201 NA 11p15.1 NA NA NA NA rs2276432 0.15 0.15 0.155 0.159944 0.164 0.0516 0.1167 0.236 0.1953 0.17 0.06 0.12 0.26 0.1583 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.874675 1.874675 NA 0.16907 0.203359 NA 0.239 NA 4.50863 1201 2 56216090 56216090 A T ncRNA_exonic MIR216A NA NA NA ncRNA_exonic ENSG00000207798 NA NA NA NA NA 2p16.1 NA NA NA NA rs41291179 0.07 0.07 0.059 0.0842652 0.0537 0.001 0.0692 0.2095 0.0429 0.05 NA 0.07 0.16 0.0522 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.928187 2.928187 NA 0.052205 0.173788 NA 0.051 NA 4.5085616 1201 10 66814327 66814327 T C intergenic ANXA2P3,CTNNA3 dist=227693;dist=865398 NA NA ncRNA_exonic ENSG00000270754 NA NA NA Score=399;Name=lod=56 NA 10q21.3 NA NA NA NA rs10996168 0.48 0.48 0.437 0.493011 0.492 0.5972 0.4352 0.3578 0.6104 0.49 0.61 0.42 0.34 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052265 NA NA NA NA NA 0.275 NA 4.508 1201 14 81371088 81371088 A G intronic CEP128 NA NA NA intronic ENSG00000100629 NA NA NA NA NA 14q31.1 NA NA Name=4 NA rs8016507 0.39 0.39 0.376 0.416134 0.492 0.2242 0.4078 0.385 0.5838 0.48 0.23 0.42 0.42 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015566 NA NA NA NA NA 0.5 NA 4.508 1201 19 58904715 58904715 C T intronic RPS5 NA NA NA intronic ENSG00000083845 NA NA NA NA NA 19q13.43 NA Name=Pol2(b),CTCF_(SC-5916) NA NA rs2289143 0.18 0.18 0.142 0.150559 0.164 0.3492 0.1037 0.0083 0.1575 0.18 0.36 0.12 0.02 0.1643 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.950073 1.950073 NA 0.163953 0.035179 NA 0.138 NA 4.507747 1201 2 211342502 211342502 G A intronic CPS1 NA NA NA intronic ENSG00000021826 NA NA NA NA NA 2q34 NA Name=Pol2-4H8,HEY1,TBP Name=100 NA rs17552879 0.46 0.46 0.421 0.480831 0.4871 0.629 0.5519 0.2103 0.637 0.48 0.6 0.55 0.2 0.5066 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050051 NA NA 0.498604 0.265306 NA 0.355 NA 4.507696 1201 3 10138189 10138189 T C intronic FANCD2,FANCD2OS NA NA NA intronic ENSG00000144554,ENSG00000163705 NA NA NA NA NA 3p25.3 NA NA Name=6 NA rs2272124 0.23 0.23 0.238 0.241813 0.1412 0.0675 0.196 0.5174 0.1851 0.15 0.1 0.2 0.52 0.1869 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753854 NA NA 0.164302 0.471403 NA 0.37 NA 4.507598 1201 22 22869649 22869649 G C exonic ZNF280A NA synonymous SNV ZNF280A:NM_080740:exon2:c.C306G:p.P102P exonic ENSG00000169548 NA synonymous SNV ENSG00000169548:ENST00000302097:exon2:c.C306G:p.P102P NA NA 22q11.22 NA Name=USF-1 NA NA rs361721 0.66 0.66 0.624 0.617612 0.7545 0.4395 0.8012 0.6611 0.4714 0.75 0.47 0.78 0.66 0.6826 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054384 NA NA 0.721977 0.671584 NA 0.565 NA 4.5075896 1201 10 90771829 90771829 T C exonic FAS NA synonymous SNV FAS:NM_152871:exon6:c.T579C:p.T193T,FAS:NM_000043:exon7:c.T642C:p.T214T,FAS:NM_152872:exon7:c.T642C:p.T214T exonic ENSG00000026103 NA synonymous SNV ENSG00000026103:ENST00000357339:exon6:c.T579C:p.T193T,ENSG00000026103:ENST00000352159:exon7:c.T642C:p.T214T,ENSG00000026103:ENST00000355279:exon7:c.T642C:p.T214T,ENSG00000026103:ENST00000355740:exon7:c.T642C:p.T214T NA Name=Immunoglobulin A 10q23.31 NA NA NA NA rs2234978 0.76 0.76 0.753 0.775359 0.7028 0.9573 0.7911 0.6475 0.8241 0.7 0.96 0.76 0.64 0.7561 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648976 NA NA 0.700233 0.685429 NA 0.703 NA 4.5075336 1201 4 87684031 87684031 A G exonic PTPN13 NA synonymous SNV PTPN13:NM_080684:exon21:c.A3132G:p.P1044P,PTPN13:NM_006264:exon23:c.A3648G:p.P1216P,PTPN13:NM_080683:exon24:c.A3705G:p.P1235P,PTPN13:NM_080685:exon24:c.A3705G:p.P1235P exonic ENSG00000163629 NA synonymous SNV ENSG00000163629:ENST00000316707:exon21:c.A3132G:p.P1044P,ENSG00000163629:ENST00000427191:exon23:c.A3648G:p.P1216P,ENSG00000163629:ENST00000511467:exon23:c.A3705G:p.P1235P,ENSG00000163629:ENST00000411767:exon24:c.A3705G:p.P1235P,ENSG00000163629:ENST00000436978:exon24:c.A3705G:p.P1235P NA NA 4q21.3 NA Name=USF-1 NA NA rs710832 0.74 0.74 0.733 0.710863 0.7167 0.6855 0.7536 0.8449 0.5194 0.71 0.68 0.78 0.81 0.7113 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408583 NA NA 0.731369 0.839808 NA 0.623 NA 4.5072976 1201 7 148851213 148851213 G A exonic ZNF398 NA synonymous SNV ZNF398:NM_170686:exon2:c.G201A:p.L67L exonic ENSG00000197024 NA synonymous SNV ENSG00000197024:ENST00000475153:exon2:c.G201A:p.L67L,ENSG00000197024:ENST00000540950:exon3:c.G216A:p.L72L Score=547;Name=lod=223 NA 7q36.1 NA NA NA NA rs917124 0.71 0.71 0.699 0.706869 0.6978 0.9514 0.7608 0.3949 0.8476 0.7 0.97 0.72 0.42 0.7417 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.203742 NA NA 0.720116 0.452111 NA 0.732 NA 4.5070506 1201 3 140140213 140140213 A T intronic CLSTN2 NA NA NA intronic ENSG00000158258 NA NA NA NA NA 3q23 Score=889;Name=V$TATA_C NA NA NA rs7643984 0.63 0.63 0.663 0.620807 0.493 0.6548 0.4625 0.9387 0.3998 0.49 0.66 0.48 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.829974 NA NA NA NA NA 0.717 NA 4.507 1201 6 58447068 58447068 A G intergenic GUSBP4,NONE dist=159344;dist=NONE NA NA ncRNA_exonic ENSG00000214561 NA NA NA Score=764;Name=lod=1701 NA 6p11.2 NA NA NA NA rs1224740 0.33 0.33 0.298 0.34405 0.493 0.251 0.3343 0.1256 0.589 0.51 0.23 0.38 0.13 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221449 NA NA NA NA ID=COSN167802;OCCURENCE=1(large_intestine) 0.449 NA 4.507 1201 10 106207269 106207269 G C intronic CCDC147 NA NA NA intronic ENSG00000120051 NA NA NA NA NA 10q25.1 NA NA Name=21 NA rs1411711 0.5 0.5 0.526 0.48143 0.493 0.494 0.3963 0.5227 0.4611 0.49 0.5 0.47 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148854 NA NA NA NA NA 0.587 NA 4.507 1201 19 10916684 10916684 C T intronic DNM2 NA NA NA intronic ENSG00000079805 NA NA NA NA NA 19p13.2 NA NA Name=2 NA rs2287029 0.14 0.14 0.118 0.110224 0.172 0.1657 0.1124 0.0098 0.1237 0.18 0.18 0.14 0.02 0.1449 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.954262 NA NA 0.176163 0.03813 ID=COSN165725;OCCURENCE=1(breast) 0.116 NA 4.506937 1201 19 48337812 48337812 C T intronic CRX NA NA NA intronic ENSG00000105392,ENSG00000259009 NA NA NA NA NA 19q13.33 NA NA NA NA rs62128766 0.09 0.09 0.095 0.0884585 0.169 0.001 0.0821 0.0666 0.1299 0.17 0.0017 0.09 0.07 0.1495 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120092 NA NA 0.174884 0.083749 NA 0.167 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085985.1;CLNDSDB=.;CLNDSDBID=. 4.506616 1201 2 108507268 108507268 T C UTR3 RGPD4 NM_182588:c.*81T>C NA NA UTR3 ENSG00000196862 ENST00000408999:c.*81T>C NA NA Score=272;Name=lod=17 NA 2q12.3 NA NA NA NA rs62150254 0.23 0.23 0.185 0.233227 0.4085 0.0377 0.2983 0.121 0.3599 0.4 0.04 0.33 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32648 NA NA 0.418605 0.161127 NA 0.014 NA 4.5062284 1201 6 29912766 29912766 A T intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs3823324 0.47 0.47 0.442 0.433506 0.494 0.377 0.5101 0.4365 0.3712 0.5 0.42 0.48 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.068446 3.068446 NA NA NA NA 0.217 NA 4.506 1201 17 42722874 42722874 G A intergenic FZD2,C17orf104 dist=84244;dist=10888 NA NA ncRNA_exonic ENSG00000267384 NA NA NA Score=568;Name=lod=271 NA 17q21.31 NA NA NA NA rs7502041 0.42 0.42 0.385 0.366014 0.494 0.5724 0.5159 0.0356 0.362 0.5 0.59 0.49 0.06 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037892 NA NA NA NA NA 0.275 NA 4.506 1201 12 9070366 9070366 T A exonic PHC1 NA synonymous SNV PHC1:NM_004426:exon2:c.T93A:p.L31L exonic ENSG00000111752 NA synonymous SNV ENSG00000111752:ENST00000541181:exon1:c.T93A:p.L31L,ENSG00000111752:ENST00000433083:exon2:c.T93A:p.L31L,ENSG00000111752:ENST00000538657:exon2:c.T93A:p.L31L,ENSG00000111752:ENST00000539063:exon2:c.T93A:p.L31L,ENSG00000111752:ENST00000540574:exon2:c.T93A:p.L31L,ENSG00000111752:ENST00000544539:exon2:c.T93A:p.L31L,ENSG00000111752:ENST00000544916:exon2:c.T93A:p.L31L,ENSG00000111752:ENST00000543824:exon3:c.T93A:p.L31L Score=604;Name=lod=379 NA 12p13.31 NA NA NA NA rs4883198 0.66 0.66 0.655 0.6877 0.7167 0.749 0.5908 0.5469 0.8538 0.72 0.76 0.58 0.5 0.7188 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.056121 NA NA 0.725349 0.597367 NA 0.703 NA 4.5058176 1201 17 76425176 76425176 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA Name=19 NA rs691094 0.11 0.11 0.097 0.105631 0.1769 0.0248 0.1153 0.0825 0.1401 0.18 0.03 0.13 0.09 0.1452 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337387 NA NA 0.172093 0.098275 NA 0.174 NA 4.505807 1201 4 187207535 187207535 G T ncRNA_intronic LOC285441 NA NA NA ncRNA_intronic ENSG00000251165 NA NA NA NA NA 4q35.2 NA NA NA NA rs2289253 0.09 0.09 0.087 0.0894569 0.0537 0.0823 0.0706 0.1445 0.0726 0.06 0.09 0.07 0.15 0.061 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114272 NA NA 0.046279 0.123468 ID=COSN167388;OCCURENCE=1(large_intestine) 0.101 NA 4.5056876 1201 4 187207715 187207715 C A ncRNA_intronic LOC285441 NA NA NA ncRNA_intronic ENSG00000251165 NA NA NA NA NA 4q35.2 NA NA NA NA rs2289254 0.09 0.09 0.095 0.0880591 0.0537 0.0823 0.0706 0.1399 0.0716 0.06 0.09 0.07 0.14 0.0609 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67923 NA NA 0.046395 0.121198 ID=COSN167389;OCCURENCE=1(large_intestine) 0.094 NA 4.5056716 1201 6 32523280 32523280 C T ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs34118047 0.11 0.11 0.091 0.10623 0.161 0.0476 0.1369 0.1067 0.0879 0.15 0.05 0.14 0.1 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155898 NA NA NA NA NA 0.138 NA 4.5056666 1201 14 70713981 70713981 A G ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs12586570 0.15 0.15 0.113 0.201478 0.161 0.2758 0.0965 0.2821 0.1319 0.13 0.22 0.09 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214742 NA NA NA NA NA 0.101 NA 4.5056666 1201 7 4780514 4780514 G T exonic FOXK1 NA synonymous SNV FOXK1:NM_001037165:exon2:c.G606T:p.T202T exonic ENSG00000164916 NA nonsynonymous SNV ENSG00000164916:ENST00000460979:exon1:c.G25T:p.V9F NA NA 7p22.1 NA NA NA NA rs3087749 0.57 0.57 0.543 0.567891 0.4811 0.8502 0.5634 0.3222 0.7014 0.5 0.89 0.54 0.34 0.5391 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140246 NA NA 0.474186 0.340218 NA 0.478 NA 4.505614 1201 1 228412308 228412308 G A exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon9:c.G2802A:p.S934S,OBSCN:NM_052843:exon9:c.G2802A:p.S934S,OBSCN:NM_001271223:exon10:c.G3078A:p.S1026S exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon9:c.G2802A:p.S934S,ENSG00000154358:ENST00000422127:exon9:c.G2802A:p.S934S,ENSG00000154358:ENST00000570156:exon10:c.G3078A:p.S1026S NA NA 1q42.13 NA NA NA NA rs1757152 0.42 0.42 0.392 0.41254 0.3678 0.3839 0.402 0.5885 0.2577 0.37 0.37 0.43 0.57 0.401 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.201427 NA NA 0.392544 0.556824 NA 0.478 NA 4.5053226 1201 4 187209559 187209559 A G ncRNA_intronic LOC285441 NA NA NA ncRNA_intronic ENSG00000251165 NA NA NA NA NA 4q35.2 NA NA NA NA rs5966 0.09 0.09 0.092 0.0894569 0.0537 0.0843 0.0677 0.1445 0.0726 0.06 0.09 0.07 0.15 0.0615 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.641883 1.641883 NA 0.046163 0.123695 NA 0.101 NA 4.5053036 1202 2 130751644 130751644 T G intergenic RAB6C,LOC440905 dist=11333;dist=31928 NA NA ncRNA_intronic ENSG00000180178 NA NA NA Score=720;Name=lod=1121 NA 2q21.1 NA NA NA NA rs140103554 NA NA 0.048 0.485024 0.495 0.4702 0.4741 0.4864 0.4959 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713926 NA NA NA NA NA NA NA 4.505 1202 9 15035853 15035853 G C intergenic LOC389705,TTC39B dist=16131;dist=134989 NA NA ncRNA_exonic ENSG00000232000 NA NA NA Score=671;Name=lod=711 NA 9p22.3 NA NA NA NA rs12337452 0.38 0.38 0.37 0.342851 0.495 0.3671 0.4179 0.174 0.3364 0.49 0.34 0.46 0.17 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037098 NA NA NA NA NA 0.406 NA 4.505 1202 6 93967851 93967851 C T exonic EPHA7 NA synonymous SNV EPHA7:NM_004440:exon11:c.G2076A:p.P692P exonic ENSG00000135333 NA synonymous SNV ENSG00000135333:ENST00000369303:exon11:c.G2076A:p.P692P NA NA 6q16.1 Score=998;Name=V$ZIC3_01 NA NA NA rs345730 0.72 0.72 0.71 0.73123 0.7237 0.8165 0.6945 0.5991 0.8558 0.72 0.84 0.69 0.62 0.7226 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927657 NA NA 0.715581 0.605538 NA 0.594 NA 4.5047856 1202 9 95599082 95599082 C T ncRNA_exonic ANKRD19P NA NA NA ncRNA_exonic ENSG00000187984 NA NA NA NA NA 9q22.31 NA NA NA NA rs10156497 0.26 0.26 0.253 0.275958 0.162 0.12 0.353 0.5514 0.1268 0.15 0.12 0.36 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291763 NA NA NA NA NA 0.275 NA 4.5046666 1202 11 123470135 123470135 T C intronic GRAMD1B NA NA NA ncRNA_exonic ENSG00000254449 NA NA NA Score=562;Name=lod=257 NA 11q24.1 NA NA NA NA rs1148096 0.87 0.87 0.841 0.871805 0.829 0.997 0.8646 0.767 0.9335 0.83 1 0.84 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725914 NA NA NA NA NA 0.928 NA 4.5043333 1202 3 146243369 146243369 G T intronic PLSCR1 NA NA NA intronic ENSG00000188313 NA NA NA NA NA 3q24 NA Name=MafK_(ab50322) NA NA rs2688693 0.17 0.17 0.173 0.152157 0.165 0.1984 0.2046 0.0726 0.1616 0.18 0.2 0.21 0.09 0.1689 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.252037 NA NA 0.161885 0.082008 NA 0.188 NA 4.504215 1202 7 118591040 118591040 T C intergenic ANKRD7,KCND2 dist=708256;dist=1322682 NA NA ncRNA_exonic ENSG00000230520 NA NA NA Score=715;Name=lod=1069 NA 7q31.31 NA NA NA NA rs6978340 0.36 0.36 0.332 0.395168 0.496 0.3353 0.4697 0.0764 0.7311 0.5 0.37 0.43 0.08 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374356 NA NA NA NA NA 0.312 NA 4.504 1202 15 31129037 31129037 G A intergenic HERC2P10,FAN1 dist=9051;dist=67018 NA NA ncRNA_exonic ENSG00000259845 NA NA NA Score=644;Name=lod=551 NA 15q13.2 NA NA NA NA rs11070624 0.54 0.54 0.524 0.528754 0.496 0.8264 0.5173 0.2118 0.6922 0.52 0.86 0.52 0.23 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364236 NA NA NA NA NA 0.572 NA 4.504 1202 10 60273155 60273155 C A intronic BICC1 NA NA NA intronic ENSG00000122870 NA NA NA NA NA 10q21.1 NA NA Name=36 NA rs7079648 0.5 0.5 0.503 0.51897 0.496 0.4762 0.3285 0.6316 0.5695 0.49 0.48 0.36 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539981 NA NA NA NA NA 0.384 NA 4.504 1202 11 119181170 119181170 T C exonic MCAM NA synonymous SNV MCAM:NM_006500:exon15:c.A1800G:p.L600L exonic ENSG00000076706 NA synonymous SNV ENSG00000076706:ENST00000264036:exon15:c.A1800G:p.L600L Score=668;Name=lod=693 NA 11q23.3 NA NA NA NA rs2249466 0.71 0.71 0.691 0.748203 0.7107 0.6577 0.7695 0.767 0.8395 0.7 0.65 0.75 0.77 0.7404 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089972 NA NA 0.711874 0.752615 ID=COSM1162429;OCCURENCE=1(pancreas) 0.652 NA 4.5036926 1202 9 95599848 95599848 C T ncRNA_exonic ANKRD19P NA NA NA ncRNA_exonic ENSG00000187984,ENSG00000226721 NA NA NA NA NA 9q22.31 NA NA NA NA rs3824428 0.26 0.26 0.246 0.276158 0.163 0.12 0.353 0.5514 0.1268 0.15 0.12 0.36 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504183 NA NA NA NA NA 0.268 NA 4.5036666 1202 7 73753250 73753250 T C exonic CLIP2 NA synonymous SNV CLIP2:NM_003388:exon3:c.T594C:p.T198T,CLIP2:NM_032421:exon3:c.T594C:p.T198T exonic ENSG00000106665 NA synonymous SNV ENSG00000106665:ENST00000395060:exon2:c.T594C:p.T198T,ENSG00000106665:ENST00000223398:exon3:c.T594C:p.T198T,ENSG00000106665:ENST00000361545:exon3:c.T594C:p.T198T NA NA 7q11.23 NA NA Name=6 NA rs539518 0.57 0.57 0.591 0.541534 0.7584 0.494 0.5778 0.3464 0.6053 0.76 0.47 0.6 0.35 0.6604 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997688 NA NA 0.74428 0.403173 NA 0.623 NA 4.5035866 1202 1 149726032 149726032 T C intergenic LINC00869,HIST2H2BF dist=53299;dist=28213 NA NA ncRNA_exonic ENSG00000226500 NA NA NA Score=638;Name=lod=522 NA 1q21.2 NA NA NA NA rs2664744 NA NA 0.19 0.498403 0.497 0.5 0.4986 0.497 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349913 NA NA NA NA NA NA NA 4.503 1202 20 36962667 36962667 A G intronic BPI NA NA NA intronic ENSG00000101425 NA NA NA NA NA 20q11.23 NA NA Name=8 NA rs2275954 0.53 0.53 0.56 0.559704 0.497 0.3899 0.5259 0.7837 0.5204 0.5 0.41 0.48 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196099 NA NA NA NA NA 0.486 NA 4.503 1202 22 29440692 29440692 A C intronic ZNRF3 NA NA NA intronic ENSG00000183579 NA NA NA NA NA 22q12.1 NA NA Name=97 NA rs713834 0.51 0.51 0.493 0.490016 0.497 0.5258 0.5403 0.4349 0.4847 0.5 0.55 0.54 0.47 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188066 NA NA NA NA NA 0.652 NA 4.503 1202 7 132192949 132192949 T C exonic PLXNA4 NA synonymous SNV PLXNA4:NM_001105543:exon2:c.A504G:p.S168S,PLXNA4:NM_020911:exon2:c.A504G:p.S168S,PLXNA4:NM_181775:exon3:c.A504G:p.S168S exonic ENSG00000221866 NA synonymous SNV ENSG00000221866:ENST00000321063:exon2:c.A504G:p.S168S,ENSG00000221866:ENST00000359827:exon2:c.A504G:p.S168S,ENSG00000221866:ENST00000423507:exon2:c.A504G:p.S168S,ENSG00000221866:ENST00000378539:exon3:c.A504G:p.S168S NA NA 7q32.3 NA NA NA NA rs156962 0.37 0.37 0.361 0.393371 0.3917 0.2718 0.3588 0.5159 0.3793 0.4 0.26 0.34 0.48 0.383 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.794856 NA NA 0.38907 0.480481 ID=COSM150391,COSM150390;OCCURENCE=1(stomach) 0.536 NA 4.5028966 1202 10 44285159 44285159 T C ncRNA_exonic HNRNPA3P1 NA NA NA ncRNA_exonic ENSG00000226790 NA NA NA NA NA 10q11.21 NA NA NA NA rs1998748 0.08 0.08 0.086 0.077476 0.0865 NA 0.0821 0.1778 0.0092 0.07 NA 0.1 0.16 0.0773 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.747682 NA NA NA NA NA 0.08 NA 4.5028666 1202 19 15880714 15880714 C G ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594,ENSG00000268673 NA NA NA NA NA 19p13.12 NA NA NA NA rs3752148 0.15 0.15 0.14 0.15655 0.164 0.122 0.1095 0.152 0.2239 0.16 0.14 0.1 0.16 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086322 NA NA NA NA NA 0.181 NA 4.5026666 1202 13 111137240 111137240 A G intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 Score=803;Name=V$STAT3_01 NA NA NA rs2296853 0.15 0.15 0.132 0.125799 0.168 0.1687 0.2464 0.0287 0.0838 0.16 0.18 0.22 0.03 0.157 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530193 NA NA 0.172652 0.042938 NA 0.051 NA 4.502348 1202 1 165648886 165648886 G A intronic ALDH9A1 NA NA NA intronic ENSG00000143149 NA NA NA NA NA 1q24.1 NA Name=CTCF NA NA rs4646896 0.34 0.34 0.363 0.354433 0.498 0.1538 0.3343 0.3654 0.4131 0.48 0.12 0.33 0.37 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33224 NA NA NA NA NA 0.37 NA 4.502 1202 3 11926423 11926423 A G intergenic TAMM41,SYN2 dist=38071;dist=119439 NA NA ncRNA_exonic ENSG00000230342 NA NA NA Score=498;Name=lod=141 NA 3p25.2 NA NA NA NA rs2055283 0.58 0.58 0.585 0.579273 0.498 0.6885 0.4467 0.7443 0.4213 0.51 0.63 0.51 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007844 NA NA NA NA NA 0.565 NA 4.502 1202 7 7333294 7333294 C T intergenic C1GALT1,COL28A1 dist=45014;dist=64950 NA NA ncRNA_exonic ENSG00000236712 NA NA NA Score=414;Name=lod=64 NA 7p21.3 NA NA NA NA rs1317198 0.57 0.57 0.554 0.571286 0.498 0.629 0.6009 0.6104 0.5133 0.49 0.62 0.6 0.61 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374578 NA NA NA NA NA 0.623 NA 4.502 1202 15 30337377 30337377 G C intergenic TJP1,ULK4P3 dist=222671;dist=58558 NA NA ncRNA_exonic ENSG00000260174 NA NA NA Score=673;Name=lod=727 NA 15q13.2 NA NA NA NA rs10775120 0.49 0.49 0.501 0.524161 0.498 0.2609 0.4049 0.8351 0.4867 0.49 0.23 0.43 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085647 NA 1 NA NA NA 0.594 NA 4.502 1202 9 131689361 131689361 G A exonic PHYHD1 NA synonymous SNV PHYHD1:NM_001100877:exon2:c.G78A:p.A26A,PHYHD1:NM_001100876:exon4:c.G78A:p.A26A,PHYHD1:NM_174933:exon4:c.G78A:p.A26A exonic ENSG00000175287 NA synonymous SNV ENSG00000175287:ENST00000421063:exon2:c.G78A:p.A26A,ENSG00000175287:ENST00000426694:exon3:c.G78A:p.A26A,ENSG00000175287:ENST00000308941:exon4:c.G78A:p.A26A,ENSG00000175287:ENST00000353176:exon4:c.G78A:p.A26A,ENSG00000175287:ENST00000372592:exon4:c.G78A:p.A26A,ENSG00000175287:ENST00000419552:exon4:c.G78A:p.A26A,ENSG00000175287:ENST00000412476:exon5:c.G78A:p.A26A,ENSG00000175287:ENST00000428610:exon5:c.G78A:p.A26A NA NA 9q34.11 NA NA NA NA rs751340 0.38 0.38 0.372 0.369808 0.4105 0.2371 0.4294 0.4228 0.3507 0.41 0.23 0.42 0.48 0.3763 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511344 NA NA 0.37814 0.418974 ID=COSM150723;OCCURENCE=1(stomach) 0.478 NA 4.5017266 1202 1 146496260 146496260 A T ncRNA_intronic LOC728989 NA NA NA ncRNA_intronic ENSG00000227242 NA NA NA NA NA 1q21.1 NA NA NA NA rs7534094 0.16 0.16 0.141 0.162141 0.165 0.1935 0.3228 0.0461 0.1697 0.15 0.18 0.31 0.06 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122274 NA NA NA NA NA 0.123 NA 4.5016666 1202 3 125643995 125643995 C T ncRNA_intronic FAM86JP NA NA NA ncRNA_intronic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs13063019 0.19 0.19 0.131 0.214657 0.165 0.1062 0.147 0.4213 0.1462 0.15 0.09 0.17 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221395 NA NA NA NA NA NA NA 4.5016666 1202 21 47541553 47541553 A G intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs1077182 0.09 0.09 0.101 0.0734824 0.1899 0.0258 0.0677 0.031 0.0644 0.18 0.03 0.07 0.04 0.1228 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105367 NA NA 0.185668 0.055556 NA 0.203 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079847.1;CLNDSDB=.;CLNDSDBID=. 4.501632 1202 2 161029218 161029218 G A exonic ITGB6 NA synonymous SNV ITGB6:NM_000888:exon6:c.C783T:p.D261D exonic ENSG00000115221 NA synonymous SNV ENSG00000115221:ENST00000428609:exon5:c.C657T:p.D219D,ENSG00000115221:ENST00000283249:exon6:c.C783T:p.D261D,ENSG00000115221:ENST00000409967:exon6:c.C783T:p.D261D,ENSG00000115221:ENST00000409872:exon7:c.C783T:p.D261D NA NA 2q24.2 NA NA NA NA rs2305818 0.29 0.29 0.258 0.228435 0.4225 0.3323 0.2594 0.0325 0.1646 0.42 0.33 0.29 0.04 0.3358 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79 NA NA 0.40686 0.093736 NA 0.167 NA 4.5015066 1202 1 165648894 165648894 C G intronic ALDH9A1 NA NA NA intronic ENSG00000143149 NA NA NA NA NA 1q24.1 NA Name=CTCF NA NA rs4646895 0.34 0.34 0.357 0.354633 0.499 0.1538 0.3343 0.3654 0.4131 0.48 0.12 0.33 0.37 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466975 NA NA NA NA NA 0.37 NA 4.501 1202 10 120403436 120403436 C T intergenic PRLHR,CACUL1 dist=48276;dist=37058 NA NA ncRNA_exonic ENSG00000225155 NA NA NA Score=629;Name=lod=478 NA 10q26.11 NA NA NA NA rs1538264 0.59 0.59 0.607 0.588858 0.499 0.8413 0.4726 0.5499 0.5562 0.51 0.85 0.46 0.51 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742981 NA NA NA NA NA 0.514 NA 4.501 1202 16 30078492 30078492 G C intronic ALDOA NA NA NA intronic ENSG00000149925 NA NA NA NA NA 16p11.2 NA Name=Pol2(b) NA NA rs9783783 0.48 0.48 0.469 0.488419 0.499 0.3661 0.4107 0.618 0.4836 0.49 0.36 0.45 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.078912 NA NA NA NA NA 0.471 NA 4.501 1202 12 6637845 6637845 T C exonic NCAPD2 NA synonymous SNV NCAPD2:NM_014865:exon26:c.T3300C:p.R1100R exonic ENSG00000010292 NA synonymous SNV ENSG00000010292:ENST00000545962:exon25:c.T3165C:p.R1055R,ENSG00000010292:ENST00000315579:exon26:c.T3300C:p.R1100R Score=423;Name=lod=70 NA 12p13.31 NA NA NA NA rs2072374 0.79 0.79 0.791 0.797125 0.7137 0.6925 0.8271 0.9811 0.7209 0.72 0.7 0.81 0.98 0.7456 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.079591 NA NA 0.70686 0.93872 NA 0.826 NA 4.5005066 1202 6 57472476 57472476 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA Name=12 NA rs9382819 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4995 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750126 NA NA NA NA NA 0.464 NA 4.5005 1202 1 145039562 145039562 C T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=CTCF,EBF,Pol2(b),ZNF263 NA NA rs1663878 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4997 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133103 NA NA NA NA NA 0.5 NA 4.5003 1202 6 57246969 57246969 G A intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA Score=643;Name=lod=548 NA 6p11.2 NA NA NA NA rs4256440 NA NA 0.47 NA NA NA NA NA NA NA NA NA NA 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.598899 1.598899 NA NA NA NA 0.5 NA 4.5002 1202 17 21215637 21215637 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA Name=4 NA rs66486636 0.5 0.5 0.45 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709097 NA NA NA NA NA 0.5 NA 4.5002 1202 17 21215643 21215643 A G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA Name=4 NA rs73302034 0.5 0.5 0.44 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218901 NA NA NA NA NA 0.5 NA 4.5002 1202 6 27219491 27219491 C G intronic PRSS16 NA NA NA intronic ENSG00000112812 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,YY1,Pol2,HMGN3,CTCF,HEY1,CCNT2 NA NA rs35589403 0.13 0.13 0.108 0.114217 0.173 0.0139 0.1153 0.1589 0.0961 0.18 0.01 0.13 0.2 0.1512 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582572 NA NA 0.175611 0.146585 NA 0.203 NA 4.500189 1202 1 17013214 17013214 T C intergenic MIR3675,ESPNP dist=5391;dist=4499 NA NA upstream;downstream ENSG00000236698;ENSG00000268869 NA NA NA Score=576;Name=lod=293 NA 1p36.13 NA NA NA NA rs10907263 NA NA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713272 NA NA NA NA NA 0.254 NA 4.5 1202 1 55834477 55834477 C T intergenic MIR4422,PPAP2B dist=143081;dist=1125942 NA NA downstream ENSG00000231900 NA NA NA Score=652;Name=lod=595 NA 1p32.3 NA NA NA NA rs57649799 0.02 0.02 0.02 0.0247604 NA NA 0.0115 0.0877 NA NA NA 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.332171 2.332171 NA NA NA NA 0.022 NA 4.5 1202 1 144868204 144868204 A C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA Name=2 NA rs1747951 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335279 NA NA NA NA NA 0.5 NA 4.5 1202 1 144871889 144871889 A C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA Score=403;Name=lod=58 NA 1q21.1 NA NA NA NA rs1698606 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133024 NA NA NA NA NA 0.5 NA 4.5 1202 1 144874038 144874038 T C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA Score=471;Name=lod=109 NA 1q21.1 NA NA NA NA rs1419160 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.602765 4.602765 NA NA NA NA 0.486 NA 4.5 1202 1 144886063 144886063 T C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=PU.1 NA NA rs1625285 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713524 NA NA NA NA NA 0.493 NA 4.5 1202 1 144930571 144930571 C A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=USF1_(SC-8983),USF-1 NA NA rs2762866 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671462 NA NA NA NA NA 0.5 NA 4.5 1202 1 149726118 149726118 A G intergenic LINC00869,HIST2H2BF dist=53385;dist=28127 NA NA ncRNA_exonic ENSG00000226500 NA NA NA Score=638;Name=lod=522 NA 1q21.2 NA NA NA NA rs2664745 NA NA 0.38 0.500399 0.5 0.5 0.5014 0.5008 0.5 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727823 NA NA NA NA NA 0.007 NA 4.5 1202 2 91777265 91777265 G T intergenic NONE,LOC654342 dist=NONE;dist=47444 NA NA upstream ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA Name=4 NA rs1809096 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020402 NA NA NA NA NA 0.261 NA 4.5 1202 2 91802817 91802817 G A intergenic NONE,LOC654342 dist=NONE;dist=21892 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=SUZ12,KAP1 NA NA rs1649457 NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.418298 NA NA NA NA NA 0.5 NA 4.5 1202 2 91802820 91802820 C G intergenic NONE,LOC654342 dist=NONE;dist=21889 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA Name=SUZ12,KAP1 NA NA rs1640048 NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.061229 NA NA NA NA NA 0.5 NA 4.5 1202 2 91924698 91924698 G C intergenic LOC654342,GGT8P dist=76723;dist=38670 NA NA upstream ENSG00000223703 NA NA NA Score=329;Name=lod=29 NA 2p11.1 NA NA NA NA rs2089351 0.36 0.36 0.385 NA NA NA NA NA NA 0.33 0.18 0.25 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158062 NA NA NA NA NA NA NA 4.5 1202 2 133019216 133019216 C T intergenic ANKRD30BL,GPR39 dist=3674;dist=154931 NA NA upstream ENSG00000233786 NA NA NA Score=728;Name=lod=1217 NA 2q21.2 NA NA NA NA rs4018086 NA NA 0.429 NA NA NA NA NA NA NA NA NA NA NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032117 NA NA NA NA NA 0.899 NA 4.5 1202 2 133019291 133019291 C A intergenic ANKRD30BL,GPR39 dist=3749;dist=154856 NA NA upstream ENSG00000233786 NA NA NA Score=728;Name=lod=1217 NA 2q21.2 NA NA NA NA rs75871437 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176426 NA NA NA NA NA NA NA 4.5 1202 7 142045899 142045899 A G intergenic LOC730441,MTRNR2L6 dist=73831;dist=328232 NA NA downstream ENSG00000211745 NA NA NA NA NA 7q34 NA NA Name=2 NA rs2974900 NA NA 0.239 NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03364 NA NA NA NA NA 0.094 NA 4.5 1202 8 85074717 85074717 C T intergenic NONE,RALYL dist=NONE;dist=20736 NA NA downstream ENSG00000253362,ENSG00000254195 NA NA NA NA NA 8q21.2 NA NA NA NA NA NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499681 NA NA NA NA NA NA NA 4.5 1202 9 67335062 67335062 G A intergenic AQP7P1,FAM27B dist=45570;dist=457867 NA NA upstream ENSG00000237238 NA NA NA NA NA 9q13 NA NA Name=10 NA rs4929655 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693013 NA NA NA NA NA NA NA 4.5 1202 9 68414199 68414199 C T intergenic ANKRD20A3,LOC642236 dist=443906;dist=13584 NA NA upstream ENSG00000232815 NA NA NA NA NA 9q13 NA NA Name=129 NA rs4928848 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174962 NA NA NA NA NA 0.58 NA 4.5 1202 10 46960084 46960084 G A UTR3 SYT15 NM_031912:c.*1886C>T NA NA ncRNA_intronic ENSG00000231187 NA NA NA NA NA 10q11.22 NA NA NA NA rs9422009 NA NA 0.375 NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013856 NA NA NA NA NA 0.399 NA 4.5 1202 12 123186596 123186596 C A UTR3 HCAR2 NM_177551:c.*143G>T NA NA ncRNA_UTR3 ENSG00000182782 NA NA NA NA NA 12q24.31 NA NA NA NA rs579935 0.21 0.21 0.08 NA NA NA NA NA NA 0.12 0.37 0.17 0.2 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503239 NA NA NA NA NA 0.072 NA 4.5 1202 16 32391477 32391477 T C intergenic LOC390705,TP53TG3 dist=90175;dist=293372 NA NA upstream ENSG00000260327 NA NA NA Score=809;Name=lod=2596 NA 16p11.2 NA NA NA NA rs28718682 NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028822 NA NA NA NA NA 0.029 NA 4.5 1202 16 33740747 33740747 C T intergenic RNU6-76P,LINC00273 dist=177504;dist=220305 NA NA downstream ENSG00000271620 NA NA NA NA NA 16p11.2 NA Name=CTCF NA NA rs2549429 0.19 0.19 0.165 NA NA NA NA NA NA 0.18 0.14 0.16 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105839 NA NA NA NA NA NA NA 4.5 1202 16 33943699 33943699 C T intergenic RNU6-76P,LINC00273 dist=380456;dist=17353 NA NA downstream ENSG00000259987 NA NA NA NA NA 16p11.2 NA NA Name=11 NA rs79019658 NA NA 0.637 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565525 NA NA NA NA NA 0.014 NA 4.5 1202 17 21208317 21208317 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs4456559 0.5 0.5 NA 0.000399361 NA 0.001 NA NA 0.001 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740376 NA NA NA NA NA 0.478 NA 4.5 1202 18 21043106 21043106 T C intronic RIOK3 NA NA NA intronic ENSG00000101782 NA NA NA NA NA 18q11.2 NA NA Name=38 NA rs72884533 0.35 0.35 0.35 0.326278 0.5 0.2361 0.4035 0.1831 0.3793 0.5 0.19 0.43 0.24 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.730946 2.730946 NA NA NA NA 0.348 NA 4.5 1202 19 21558818 21558818 C G ncRNA_intronic ZNF738 NA NA NA UTR3 ENSG00000172687 ENST00000597492:c.*358C>G NA NA NA NA 19p12 NA NA NA NA rs185096575 0.0037 0.0037 NA NA NA NA NA NA NA NA NA 0.0028 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941433 NA NA NA NA NA 0.007 NA 4.5 1202 20 17993623 17993623 T A intergenic MGME1,OVOL2 dist=21861;dist=11173 NA NA downstream ENSG00000218902 NA NA NA Score=631;Name=lod=490 NA 20p11.23 NA NA NA NA rs368075266 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647533 NA NA NA NA NA NA NA 4.5 1202 20 53691153 53691153 C T intergenic DOK5,CBLN4 dist=423443;dist=881260 NA NA upstream ENSG00000185834 NA NA NA Score=754;Name=lod=1544 NA 20q13.2 NA NA NA NA rs10446020 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.446873 1.446873 NA NA NA NA 0.014 NA 4.5 1202 21 11058025 11058025 T C UTR3 BAGE NM_001187:c.*403A>G NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA NA NA rs3877863 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.076828 NA NA NA NA NA 0.493 NA 4.5 1202 X 155214964 155214964 T C intergenic VAMP7,IL9R dist=41531;dist=12282 NA NA downstream ENSG00000223484 NA NA NA Score=352;Name=lod=36 NA Xq28 NA NA NA NA rs77788813 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000755 NA NA NA NA NA 0.283 NA 4.5 1202 X 155215920 155215920 C T intergenic VAMP7,IL9R dist=42487;dist=11326 NA NA upstream ENSG00000223484 NA NA NA Score=552;Name=lod=233 NA Xq28 NA NA NA NA rs4013615 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114959 NA NA NA NA NA 0.696 NA 4.5 1202 1 145311083 145311083 A C intronic NBPF10,NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA Name=2 NA rs4649871 NA NA 0.181 NA NA NA NA NA NA NA NA NA NA 0.5003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.39437 NA NA NA NA NA NA NA 4.4997 1202 15 25219512 25219512 T C UTR5;UTR3 SNRPN;SNURF NM_022806:c.-89T>C,NM_022808:c.-89T>C,NM_022807:c.-89T>C,NM_022805:c.-89T>C,NM_003097:c.-89T>C;NM_005678:c.*100T>C NA NA UTR5;UTR3 ENSG00000128739;ENSG00000214265 ENST00000400098:c.-89T>C,ENST00000400100:c.-89T>C,ENST00000400097:c.-89T>C,ENST00000390687:c.-89T>C,ENST00000584968:c.-89T>C,ENST00000554227:c.-578T>C,ENST00000577565:c.-89T>C,ENST00000444203:c.-578T>C;ENST00000338094:c.*100T>C NA NA NA NA 15q11.2 NA Name=Pol2 NA NA rs705 0.54 0.54 0.562 0.521765 0.4254 0.5198 0.513 0.7973 0.2566 0.42 0.52 0.54 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729191 NA NA 0.408548 0.742052 NA 0.565 NA 4.4993854 1202 2 219706535 219706535 C T intergenic PRKAG3,WNT6 dist=10023;dist=18011 NA NA ncRNA_exonic ENSG00000232625 NA NA NA Score=725;Name=lod=1174 NA 2q35 NA NA NA NA rs10197074 0.24 0.24 0.216 0.183706 0.501 0.0258 0.2608 0.025 0.18 0.49 0.02 0.32 0.04 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950556 NA NA NA NA NA 0.203 NA 4.499 1202 15 84950635 84950635 A G intergenic GOLGA6L4,DNM1P41 dist=36515;dist=95171 NA NA downstream ENSG00000221247,ENSG00000259570,ENSG00000259683 NA NA NA NA NA 15q25.2 NA NA NA NA NA NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588399 NA NA NA NA NA NA NA 4.499 1202 6 29942979 29942979 G C ncRNA_exonic HCG9 NA NA NA ncRNA_exonic ENSG00000204625 NA NA NA NA NA 6p22.1 NA NA NA NA rs9260830 0.05 0.05 0.064 0.0519169 0.0517 0.0377 0.0346 0.0696 0.0552 0.05 0.05 0.04 0.08 0.059 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386004 NA NA 0.057217 0.06163 NA 0.036 NA 4.4987496 1202 7 76950035 76950035 C T intronic GSAP NA NA NA intronic ENSG00000186088 NA NA NA NA NA 7q11.23 NA Name=MafK_(ab50322) NA NA rs6950870 0.12 0.12 0.105 0.144968 0.159 0.0496 0.1585 0.1082 0.2689 0.17 0.04 0.17 0.12 0.1744 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05573 NA NA 0.168494 0.107663 NA 0.123 NA 4.498106 1202 1 111060669 111060669 T C exonic KCNA10 NA synonymous SNV KCNA10:NM_005549:exon1:c.A741G:p.L247L exonic ENSG00000143105 NA synonymous SNV ENSG00000143105:ENST00000369771:exon1:c.A741G:p.L247L NA NA 1p13.3 Score=786;Name=V$COMP1_01 NA NA NA rs1281175 0.67 0.67 0.671 0.624201 0.7336 0.5853 0.7839 0.5144 0.5869 0.75 0.63 0.73 0.52 0.7049 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.665978 NA NA 0.730581 0.556287 NA 0.601 NA 4.4975856 1202 1 111061062 111061062 T C exonic KCNA10 NA synonymous SNV KCNA10:NM_005549:exon1:c.A348G:p.E116E exonic ENSG00000143105 NA synonymous SNV ENSG00000143105:ENST00000369771:exon1:c.A348G:p.E116E Score=667;Name=lod=688 NA 1p13.3 NA NA NA NA rs1281174 0.67 0.67 0.645 0.624201 0.7336 0.5853 0.7839 0.5144 0.5869 0.75 0.63 0.73 0.52 0.705 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220174 NA NA 0.730581 0.555152 NA 0.601 NA 4.4974856 1202 4 57273840 57273840 C G exonic PPAT NA synonymous SNV PPAT:NM_002703:exon2:c.G171C:p.S57S exonic ENSG00000128059 NA synonymous SNV ENSG00000128059:ENST00000264220:exon2:c.G171C:p.S57S,ENSG00000128059:ENST00000507724:exon2:c.G171C:p.S57S,ENSG00000128059:ENST00000510643:exon2:c.G171C:p.S57S NA NA 4q12 NA NA NA NA rs11538098 0.26 0.26 0.261 0.260184 0.4016 0.0704 0.2795 0.239 0.3252 0.41 0.06 0.29 0.25 0.351 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591295 NA NA 0.41686 0.253518 ID=COSM1131102;OCCURENCE=1(prostate) 0.283 NA 4.4972066 1202 7 149523277 149523277 A G exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon101:c.A14360G:p.H4787R ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs1004200 0.43 0.43 0.421 0.448882 0.3052 0.4286 0.3732 0.7027 0.3282 0.29 0.43 0.38 0.68 0.3698 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451905 NA 0.64 0.327936 0.643148 NA 0.464 NA 4.497064 1202 6 32497824 32497824 C A intronic HLA-DRB5 NA NA NA intronic ENSG00000198502 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8,ELF1_(SC-631),NFKB NA NA rs201954564 NA NA 0.157 0.53095 0.503 0.5079 0.5014 0.6241 0.4785 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0148 NA NA NA NA NA NA NA 4.497 1202 11 1825231 1825231 G A intergenic MOB2,SYT8 dist=39730;dist=30443 NA NA ncRNA_exonic ENSG00000230080 NA NA NA Score=819;Name=lod=2848 NA 11p15.5 NA NA NA NA rs11041180 0.36 0.36 0.341 0.31869 0.503 0.2758 0.3156 0.2005 0.3354 0.51 0.28 0.36 0.21 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774586 NA NA NA NA NA 0.246 NA 4.497 1202 16 56686704 56686704 G A intronic MT1B NA NA NA intronic ENSG00000169688 NA NA NA NA NA 16q12.2 NA NA Name=3 NA rs1875233 0.38 0.38 0.383 0.395367 0.503 0.3185 0.402 0.2867 0.5061 0.51 0.3 0.43 0.26 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007731 NA NA NA NA NA 0.413 NA 4.497 1202 16 56686818 56686818 T C intronic MT1B NA NA NA intronic ENSG00000169688 NA NA NA NA NA 16q12.2 NA NA Name=3 NA rs8052334 0.38 0.38 0.394 0.395168 0.503 0.3185 0.402 0.2859 0.5061 0.51 0.3 0.43 0.26 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096912 NA NA NA NA NA 0.377 NA 4.497 1202 3 125639648 125639648 T C ncRNA_intronic FAM86JP NA NA NA ncRNA_intronic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs2062773 0.21 0.21 0.219 0.271366 0.17 0.1071 0.1801 0.612 0.1493 0.15 0.09 0.18 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496488 NA NA NA NA NA 0.029 NA 4.4966666 1202 14 106452766 106452766 T A intergenic ADAM6,LINC00226 dist=14408;dist=291503 NA NA exonic ENSG00000211934 NA nonsynonymous SNV ENSG00000211934:ENST00000390594:exon2:c.A256T:p.R86W NA NA 14q32.33 NA NA Name=4 NA rs112806369 0.33 0.33 0.3 0.321086 0.4642 0.3095 0.3516 0.1831 0.3507 0.46 0.31 0.31 0.17 0.4144 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624764 NA 0.04 0.458085 0.232082 ID=COSN229338,COSN229337;OCCURENCE=1(skin) 0.152 NA 4.4966484 1202 19 51109793 51109793 C A intergenic SNAR-F,SYT3 dist=1451;dist=15441 NA NA intergenic ENSG00000131409,ENSG00000213023 dist=38491;dist=14771 NA NA NA NA 19q13.33 NA Name=SP1,E2F6,NF-YA,ZBTB33,CTCF,CHD2_(N-1250),NF-YB Name=27 NA rs1895373 0.73 0.73 0.729 0.722444 0.837 0.3869 0.8012 0.9009 0.6534 0.84 0.4 0.8 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479216 NA NA NA NA NA 0.826 NA 4.4963334 1202 6 33752013 33752013 A G intronic LEMD2 NA NA NA intronic ENSG00000161904 NA NA NA NA NA 6p21.31 NA NA Name=8 NA rs943479 0.53 0.53 0.496 0.55012 0.504 0.8304 0.4755 0.3086 0.6881 0.52 0.81 0.46 0.26 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785091 NA NA NA NA NA 0.594 NA 4.496 1202 6 51936846 51936846 T C intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.2 NA NA Name=4 NA rs3936986 0.41 0.41 0.355 0.355831 0.504 0.3998 0.6023 0.1097 0.316 0.51 0.41 0.59 0.13 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.715109 NA NA NA NA NA 0.464 NA 4.496 1202 6 101337780 101337780 C G intergenic ASCC3,GRIK2 dist=8556;dist=509081 NA NA ncRNA_exonic ENSG00000270987 NA NA NA Score=420;Name=lod=68 NA 6q16.3 NA NA NA NA rs9498420 0.5 0.5 0.495 0.481629 0.504 0.7063 0.6023 0.3275 0.3497 0.46 0.7 0.52 0.3 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419372 NA NA NA NA NA 0.225 NA 4.496 1202 17 5415684 5415684 A C intronic NLRP1 NA NA NA intronic ENSG00000091592 NA NA NA Score=642;Name=lod=544 NA 17p13.2 NA NA NA NA rs9912217 0.72 0.72 0.735 0.75 0.504 0.9841 0.4856 0.9145 0.727 0.51 0.99 0.48 0.9 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865797 NA NA NA NA NA 0.652 NA 4.496 1202 6 70964745 70964745 G T intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA Name=GR NA NA rs13219431 0.09 0.09 0.087 0.0561102 0.1789 0.002 0.0764 0.0076 0.0368 0.2 0.0017 0.09 0.01 0.1339 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.02796 2.02796 NA 0.191279 0.03586 NA 0.181 NA 4.495921 1202 4 152624972 152624972 A G intronic PET112 NA NA NA exonic ENSG00000059691 NA synonymous SNV ENSG00000059691:ENST00000512306:exon8:c.T1038C:p.Y346Y NA NA 4q31.3 NA NA NA NA rs28706249 0.12 0.12 0.12 0.1248 0.1074 0.12 0.085 0.2337 0.0286 0.11 0.09 0.07 0.19 0.1093 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436038 NA NA 0.12093 0.214707 NA 0.123 NA 4.4957033 1202 3 88145070 88145070 C T intronic CGGBP1 NA NA NA ncRNA_exonic ENSG00000241535 NA NA NA Score=435;Name=lod=78 NA 3p11.1 NA NA NA NA rs9310074 0.71 0.71 0.674 0.69369 0.838 0.8333 0.804 0.2617 0.907 0.83 0.86 0.82 0.29 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485442 NA NA NA NA NA 0.594 NA 4.4953333 1202 3 108110570 108110570 G A intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA Name=2 NA rs74660263 0.1 0.1 0.081 0.0734824 0.1879 NA 0.1268 0.0098 0.0798 0.21 NA 0.15 0.02 0.1338 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289828 NA NA 0.18316 0.036179 NA 0.087 NA 4.49514 1202 5 117054860 117054860 C T intergenic LOC728342,DTWD2 dist=139421;dist=1117709 NA NA downstream ENSG00000251477 NA NA NA Score=760;Name=lod=1636 NA 5q23.1 NA NA NA NA rs184352463 0.0032 0.0032 NA 0.00299521 0.005 NA 0.0086 0.0015 0.002 0.0026 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888163 NA NA NA NA NA NA NA 4.495 1202 7 18002126 18002126 A C intergenic SNX13,PRPS1L1 dist=21995;dist=64274 NA NA ncRNA_exonic ENSG00000236195 NA NA NA Score=682;Name=lod=789 NA 7p21.1 NA NA NA NA rs13224298 0.4 0.4 0.345 0.331869 0.505 0.3363 0.5159 0.18 0.2239 0.54 0.34 0.5 0.16 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040428 NA NA NA NA NA 0.275 NA 4.495 1202 9 14040837 14040837 A C intergenic LINC00583,NFIB dist=95231;dist=41005 NA NA ncRNA_exonic ENSG00000223568 NA NA NA Score=653;Name=lod=602 NA 9p23 NA NA NA NA rs1853199 0.62 0.62 0.603 0.615815 0.505 0.9524 0.4337 0.5197 0.6421 0.53 0.95 0.45 0.49 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463502 NA NA NA NA NA 0.428 NA 4.495 1202 12 52646941 52646941 C G intergenic KRT7,KRT81 dist=4232;dist=32756 NA NA ncRNA_intronic ENSG00000135477 NA NA NA NA NA 12q13.13 NA Name=Pol2,Pol2(phosphoS2) NA NA rs3741722 0.53 0.53 0.509 0.558906 0.505 0.6865 0.5778 0.3835 0.7065 0.52 0.66 0.52 0.42 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172478 NA NA NA NA NA 0.601 NA 4.495 1202 14 100993219 100993219 T C intronic WDR25 NA NA NA intronic ENSG00000176473 NA NA NA NA NA 14q32.2 NA Name=SUZ12,c-Myc NA NA rs62637671 NA NA NA 0.512181 0.505 0.5298 0.5202 0.5053 0.5051 NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89257 NA NA NA NA NA 0.406 NA 4.495 1202 15 23182267 23182267 G A intergenic LOC283683,WHAMMP3 dist=67013;dist=5462 NA NA ncRNA_exonic ENSG00000259174 NA NA NA Score=656;Name=lod=616 NA 15q11.2 NA NA NA NA rs12050782 0.54 0.54 0.493 0.507588 0.505 0.8125 0.5403 0.1989 0.59 0.55 0.79 0.54 0.21 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120706 NA NA NA NA NA 0.377 NA 4.495 1203 3 125647341 125647341 A G ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs1976460 0.22 0.22 0.234 0.240815 0.172 0.1071 0.1542 0.5098 0.1472 0.16 0.1 0.17 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10375 NA NA NA NA NA 0.167 NA 4.4946666 1203 3 125647486 125647486 A T ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs1976459 0.21 0.21 0.254 0.240815 0.172 0.1071 0.1542 0.5098 0.1472 0.15 0.07 0.15 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333143 NA NA NA NA NA 0.225 NA 4.4946666 1203 3 125647512 125647512 T G ncRNA_exonic FAM86JP NA NA NA ncRNA_exonic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs1976458 0.21 0.21 0.234 0.240216 0.172 0.1071 0.1542 0.5076 0.1472 0.14 0.07 0.15 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270001 NA NA NA NA NA 0.217 NA 4.4946666 1203 22 43930825 43930825 C T ncRNA_exonic EFCAB6-AS1 NA NA NA ncRNA_exonic ENSG00000223843 NA NA NA NA NA 22q13.2 NA NA NA NA rs4585129 0.12 0.12 0.111 0.0986422 0.172 0.0288 0.1066 0.0847 0.1084 0.18 0.03 0.12 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079423 NA NA NA NA NA 0.188 NA 4.4946666 1203 6 70916888 70916888 A C exonic COL19A1 NA synonymous SNV COL19A1:NM_001858:exon51:c.A3339C:p.P1113P exonic ENSG00000082293 NA synonymous SNV ENSG00000082293:ENST00000393344:exon38:c.A2205C:p.P735P,ENSG00000082293:ENST00000322773:exon51:c.A3339C:p.P1113P Score=554;Name=lod=237 NA 6q13 NA NA NA NA rs1200576 0.75 0.75 0.751 0.758786 0.7107 0.6974 0.8559 0.8419 0.6902 0.71 0.68 0.83 0.83 0.7351 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898206 NA NA 0.726279 0.819564 NA 0.855 NA 4.4945876 1203 6 56484758 56484758 C T exonic DST NA synonymous SNV DST:NM_001723:exon23:c.G4074A:p.K1358K exonic ENSG00000151914 NA synonymous SNV ENSG00000151914:ENST00000370765:exon23:c.G4074A:p.K1358K NA NA 6p12.1 NA NA NA NA rs2230862 0.35 0.35 0.341 0.336462 0.3946 0.2034 0.3746 0.4523 0.2301 0.38 0.2 0.39 0.46 0.361 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.124682 NA NA 0.416744 0.435315 NA 0.384 NA 4.4943226 1203 7 91713972 91713972 C T exonic AKAP9 NA synonymous SNV AKAP9:NM_005751:exon34:c.C8665T:p.L2889L,AKAP9:NM_147185:exon34:c.C8641T:p.L2881L exonic ENSG00000127914 NA synonymous SNV ENSG00000127914:ENST00000394534:exon8:c.C2203T:p.L735L,ENSG00000127914:ENST00000356239:exon34:c.C8665T:p.L2889L NA NA 7q21.2 NA NA NA NA rs10228334 0.36 0.36 0.364 0.373802 0.3867 0.1617 0.3573 0.5076 0.41 0.39 0.17 0.38 0.53 0.3832 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.635955 NA NA 0.402749 0.515433 NA 0.413 NA 4.4940176 1203 3 80266208 80266208 C T intergenic ROBO1,GBE1 dist=449149;dist=1272642 NA NA ncRNA_exonic ENSG00000239699 NA NA NA Score=419;Name=lod=67 NA 3p12.2 NA NA NA NA rs17749340 0.6 0.6 0.624 0.606829 0.506 0.6746 0.438 0.8608 0.4172 0.5 0.66 0.44 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.028015 NA NA NA NA NA 0.703 NA 4.494 1203 6 19613078 19613078 T C intergenic MIR548A1,ID4 dist=1040967;dist=224523 NA NA ncRNA_exonic ENSG00000214012 NA NA NA Score=325;Name=lod=28 NA 6p22.3 NA NA NA NA rs1936905 0.4 0.4 0.326 0.407149 0.506 0.2867 0.4611 0.388 0.4172 0.49 0.25 0.48 0.37 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647644 NA NA NA NA NA 0.565 NA 4.494 1203 6 19613709 19613709 C T intergenic MIR548A1,ID4 dist=1041598;dist=223892 NA NA ncRNA_exonic ENSG00000214012 NA NA NA Score=476;Name=lod=115 NA 6p22.3 NA NA NA NA rs9348387 0.4 0.4 0.374 0.407149 0.506 0.2867 0.4597 0.388 0.4182 0.49 0.25 0.48 0.38 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126065 NA NA NA NA NA 0.58 NA 4.494 1203 20 5273253 5273253 G A intergenic CDS2,PROKR2 dist=94720;dist=9433 NA NA ncRNA_exonic ENSG00000225022 NA NA NA Score=769;Name=lod=1781 NA 20p12.3 NA NA NA NA rs7271296 0.56 0.56 0.545 0.572085 0.506 0.5784 0.5086 0.6596 0.5603 0.51 0.55 0.51 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.828034 1.828034 NA NA NA NA 0.486 NA 4.494 1203 20 5273314 5273314 C T intergenic CDS2,PROKR2 dist=94781;dist=9372 NA NA ncRNA_exonic ENSG00000225022 NA NA NA Score=769;Name=lod=1781 NA 20p12.3 NA NA NA NA rs6038126 0.56 0.56 0.55 0.571685 0.506 0.5784 0.5086 0.6581 0.5603 0.51 0.55 0.51 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.523773 1.523773 NA NA NA NA 0.486 NA 4.494 1203 20 5273382 5273382 G A intergenic CDS2,PROKR2 dist=94849;dist=9304 NA NA ncRNA_exonic ENSG00000225022 NA NA NA Score=769;Name=lod=1781 NA 20p12.3 NA NA NA NA rs2234397 0.56 0.56 0.543 0.572085 0.506 0.5784 0.5086 0.6596 0.5603 0.51 0.55 0.51 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255356 1.255356 NA NA NA NA 0.486 NA 4.494 1203 1 235940450 235940450 C T exonic LYST NA synonymous SNV LYST:NM_000081:exon17:c.G5373A:p.K1791K exonic ENSG00000143669 NA synonymous SNV ENSG00000143669:ENST00000389793:exon17:c.G5373A:p.K1791K,ENSG00000143669:ENST00000389794:exon17:c.G5373A:p.K1791K NA NA 1q42.3 NA NA NA NA rs2273584 0.33 0.33 0.313 0.300919 0.4254 0.0655 0.2997 0.4871 0.1646 0.42 0.09 0.31 0.49 0.3483 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361018 NA NA 0.399302 0.505901 NA 0.355 NA 4.4936646 1203 6 24523174 24523174 G A intronic ALDH5A1 NA NA NA intronic ENSG00000112294 NA NA NA NA NA 6p22.3 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs67603730 0.16 0.16 0.152 0.168331 0.1918 0.1042 0.1239 0.2057 0.1912 0.19 0.09 0.14 0.22 0.1616 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481483 NA NA 0.153488 0.184748 ID=COSN167708;OCCURENCE=1(large_intestine) 0.225 NA 4.493112 1203 2 207101466 207101466 C T intergenic GPR1,ZDBF2 dist=18695;dist=38057 NA NA ncRNA_exonic ENSG00000159186 NA NA NA Score=439;Name=lod=81 NA 2q33.3 NA NA NA NA rs959109 0.45 0.45 0.472 0.565495 0.507 0.5109 0.6037 0.6437 0.5491 0.4 0.44 0.51 0.48 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.5759 NA NA NA NA NA NA NA 4.493 1203 2 207101467 207101467 A G intergenic GPR1,ZDBF2 dist=18696;dist=38056 NA NA ncRNA_exonic ENSG00000159186 NA NA NA Score=439;Name=lod=81 NA 2q33.3 NA NA NA NA rs726164 0.44 0.44 0.474 0.565495 0.507 0.5099 0.6037 0.6445 0.5491 0.39 0.44 0.51 0.48 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050984 NA NA NA NA NA NA NA 4.493 1203 5 77080789 77080789 G A intergenic TBCA,AP3B1 dist=8604;dist=217361 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254405 0.36 0.36 0.383 0.375998 0.507 0.1111 0.3559 0.4539 0.4233 0.48 0.13 0.36 0.42 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598662 NA NA NA NA NA 0.297 NA 4.493 1203 13 90823859 90823859 C T intergenic LINC00559,MIR622 dist=51888;dist=59577 NA NA ncRNA_exonic ENSG00000235879 NA NA NA Score=789;Name=lod=2137 NA 13q31.3 NA NA NA NA rs9555981 0.6 0.6 0.607 0.625399 0.507 0.621 0.5331 0.733 0.6718 0.53 0.62 0.57 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.256402 2.256402 NA NA NA NA 0.659 NA 4.493 1203 17 42009916 42009916 C T intergenic FAM215A,PPY dist=14561;dist=8256 NA NA ncRNA_exonic ENSG00000267420 NA NA NA Score=627;Name=lod=469 NA 17q21.31 NA NA NA NA rs2543104 0.27 0.27 0.235 0.238818 0.507 0.0972 0.2997 0.0635 0.3027 0.51 0.07 0.33 0.07 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.611805 2.611805 NA NA NA NA 0.254 NA 4.493 1203 20 29449502 29449502 A G intergenic NONE,FRG1B dist=NONE;dist=162377 NA NA ncRNA_exonic ENSG00000204555 NA NA NA Score=454;Name=lod=93 NA 20q11.21 NA NA NA NA rs4010663 NA NA 0.352 0.515575 0.507 0.502 0.5159 0.5378 0.5082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45261 NA NA NA NA NA NA NA 4.493 1203 12 52938535 52938535 A G intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA Name=CTCF,c-Myc Name=8 NA rs10783519 0.41 0.41 0.348 0.351637 0.5129 0.5258 0.4813 0.0424 0.3323 0.52 0.5 0.51 0.08 0.4828 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29887 NA NA 0.51151 0.134677 NA 0.406 NA 4.49279 1203 1 119157211 119157211 G T intergenic SPAG17,TBX15 dist=429363;dist=268455 NA NA ncRNA_exonic ENSG00000226126 NA NA NA Score=838;Name=lod=3396 NA 1p12 NA NA NA NA rs1742854 0.39 0.39 0.396 0.392173 0.508 0.246 0.3977 0.3805 0.4356 0.5 0.26 0.41 0.37 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102543 NA NA NA NA NA 0.58 NA 4.492 1203 1 119158186 119158186 C T intergenic SPAG17,TBX15 dist=430338;dist=267480 NA NA ncRNA_exonic ENSG00000226126 NA NA NA Score=838;Name=lod=3396 NA 1p12 NA NA NA NA rs1701978 0.39 0.39 0.404 0.391374 0.508 0.246 0.3977 0.3805 0.4315 0.5 0.26 0.41 0.37 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118018 NA NA NA NA NA 0.58 NA 4.492 1203 5 16694349 16694349 T C intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA Name=31 NA rs25911 0.54 0.54 0.516 0.535942 0.508 0.5109 0.5648 0.5666 0.5286 0.5 0.53 0.57 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136218 NA NA NA NA NA 0.522 NA 4.492 1203 5 126506652 126506652 G A intergenic C5orf63,MEGF10 dist=97468;dist=119804 NA NA ncRNA_exonic ENSG00000250080 NA NA NA Score=730;Name=lod=1238 NA 5q23.2 NA NA NA NA rs248075 0.41 0.41 0.414 0.375399 0.508 0.2996 0.3847 0.3525 0.3415 0.5 0.34 0.44 0.34 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282848 NA NA NA NA NA 0.355 NA 4.492 1203 5 126507382 126507382 G A intergenic C5orf63,MEGF10 dist=98198;dist=119074 NA NA ncRNA_exonic ENSG00000250080 NA NA NA Score=762;Name=lod=1663 NA 5q23.2 NA NA NA NA rs248078 0.45 0.45 0.469 0.41873 0.508 0.2996 0.3905 0.5136 0.3415 0.5 0.34 0.44 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102664 NA NA NA NA NA 0.399 NA 4.492 1203 7 126935799 126935799 G A intergenic GRM8,ZNF800 dist=43371;dist=74555 NA NA ncRNA_exonic ENSG00000236105 NA NA NA Score=568;Name=lod=272 NA 7q31.33 NA NA NA NA rs2018937 0.51 0.51 0.542 0.508786 0.508 0.1716 0.4222 0.9349 0.3425 0.5 0.19 0.43 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054264 NA NA NA NA NA 0.58 NA 4.492 1203 9 14041071 14041071 T C intergenic LINC00583,NFIB dist=95465;dist=40771 NA NA ncRNA_exonic ENSG00000223568 NA NA NA Score=790;Name=lod=2170 NA 9p23 NA NA NA NA rs10511588 0.63 0.63 0.634 0.633786 0.508 0.9514 0.4352 0.5847 0.6431 0.53 0.95 0.45 0.55 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000098 NA NA NA NA NA 0.457 NA 4.492 1203 13 90823449 90823449 T C intergenic LINC00559,MIR622 dist=51478;dist=59987 NA NA ncRNA_exonic ENSG00000235879 NA NA NA Score=789;Name=lod=2137 NA 13q31.3 NA NA NA NA rs9560568 0.53 0.53 0.526 0.542931 0.508 0.62 0.5058 0.4342 0.6728 0.53 0.62 0.55 0.43 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363648 NA NA NA NA NA 0.522 NA 4.492 1203 17 42009756 42009756 G A intergenic FAM215A,PPY dist=14401;dist=8416 NA NA ncRNA_intronic ENSG00000267420 NA NA NA Score=265;Name=lod=16 NA 17q21.31 NA NA NA NA rs12602821 0.27 0.27 0.242 0.244409 0.508 0.0972 0.3012 0.084 0.3016 0.51 0.07 0.33 0.08 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.051061 NA NA NA NA NA 0.275 NA 4.492 1203 6 32521700 32521700 G A ncRNA_exonic HLA-DRB6 NA NA NA ncRNA_exonic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs61104187 0.15 0.15 0.11 0.131589 0.175 0.0992 0.1801 0.1271 0.092 0.19 0.07 0.22 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556953 NA NA NA NA ID=COSN167734;OCCURENCE=1(large_intestine) 0.036 NA 4.4916666 1203 21 46057958 46057958 C T exonic KRTAP10-10 NA synonymous SNV KRTAP10-10:NM_181688:exon1:c.C624T:p.S208S exonic ENSG00000221859 NA synonymous SNV ENSG00000221859:ENST00000380095:exon1:c.C624T:p.S208S Score=272;Name=lod=17 NA 21q22.3 NA NA NA NA rs4818951 0.64 0.64 0.559 0.640176 0.7594 0.6687 0.6931 0.4092 0.7628 0.75 0.65 0.7 0.43 0.7023 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996075 NA NA 0.713488 0.443032 NA 0.319 NA 4.4914786 1203 5 167933215 167933215 A G intronic RARS NA NA NA intronic ENSG00000113643 NA NA NA Score=481;Name=lod=120 NA 5q34 NA NA NA NA rs2305735 0.1 0.1 0.088 0.0744808 0.1799 0.0645 0.0908 0.0098 0.0521 0.18 0.08 0.11 0.02 0.1401 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.481532 1.481532 NA 0.188837 0.036541 NA 0.058 NA 4.491163 1203 2 207101446 207101446 G A intergenic GPR1,ZDBF2 dist=18675;dist=38077 NA NA ncRNA_exonic ENSG00000159186 NA NA NA Score=439;Name=lod=81 NA 2q33.3 NA NA NA NA rs726165 0.6 0.6 0.591 0.624601 0.5089 0.5119 0.6167 0.8585 0.5491 0.5 0.5 0.59 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.088859 NA NA NA NA NA 0.565 NA 4.4911 1203 3 97611916 97611916 A C intronic CRYBG3 NA NA NA intronic ENSG00000080200 NA NA NA NA NA 3q11.2 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs1506441 0.5 0.5 0.491 0.474441 0.5089 0.6776 0.5043 0.2526 0.5082 0.52 0.72 0.45 0.26 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.452109 NA NA NA NA NA 0.442 NA 4.4911 1203 9 90432270 90432270 G C intergenic CTSL3P,CTSL1P8 dist=30471;dist=27390 NA NA ncRNA_exonic ENSG00000232743 NA NA NA Score=606;Name=lod=386 NA 9q22.1 NA NA NA NA rs13283130 0.28 0.28 0.25 0.240815 0.5089 0.003 0.3718 0.1589 0.228 0.5 0.0017 0.4 0.17 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241967 NA NA NA NA NA 0.138 NA 4.4911 1203 17 38066240 38066240 T C intronic GSDMB NA NA NA intronic ENSG00000073605 NA NA NA NA Name=Type 1 diabetes 17q12 NA NA NA NA rs2290400 0.45 0.45 0.439 0.420527 0.5089 0.2937 0.4049 0.4894 0.3783 0.52 0.33 0.42 0.49 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075381 NA NA NA NA NA 0.457 NA 4.4911 1203 17 39564507 39564507 C G ncRNA_intronic LOC100505782 NA NA NA ncRNA_exonic ENSG00000225438 NA NA NA NA NA 17q21.2 NA NA NA NA rs2071615 0.18 0.18 0.168 0.173323 0.1759 0.3482 0.1254 0.0333 0.2137 0.18 0.33 0.13 0.04 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657917 NA NA NA NA NA 0.109 NA 4.4907666 1203 19 50475458 50475458 T A ncRNA_intronic SIGLEC16 NA NA NA ncRNA_intronic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs34653225 0.22 0.22 0.242 0.194089 0.1759 0.3323 0.1527 0.1717 0.1299 0.18 0.32 0.17 0.2 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245957 NA NA NA NA NA 0.152 NA 4.4907666 1203 19 50475466 50475466 G A ncRNA_intronic SIGLEC16 NA NA NA ncRNA_intronic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs55752562 0.22 0.22 0.239 0.19369 0.1759 0.3313 0.1527 0.1717 0.1288 0.18 0.32 0.17 0.2 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135338 NA NA NA NA NA 0.152 NA 4.4907666 1203 1 24673866 24673866 A G intronic GRHL3 NA NA NA intronic ENSG00000158055 NA NA NA NA NA 1p36.11 NA Name=TBP NA NA rs6691722 0.57 0.57 0.555 0.577276 0.5099 0.5 0.6268 0.708 0.5143 0.52 0.5 0.6 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68526 NA NA NA NA NA 0.514 NA 4.4901 1203 1 153004721 153004721 A T intronic SPRR1B NA NA NA intronic ENSG00000169469 NA NA NA NA NA 1q21.3 NA Name=PAX5-N19 NA NA rs1334848 0.52 0.52 0.525 0.49401 0.5099 0.5913 0.4251 0.4402 0.499 0.51 0.62 0.46 0.46 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229006 NA NA NA NA NA 0.457 NA 4.4901 1203 12 45465934 45465934 C T intergenic RACGAP1P,PLEKHA8P1 dist=6740;dist=100883 NA NA ncRNA_exonic ENSG00000257572 NA NA NA Score=601;Name=lod=368 NA 12q12 NA NA NA NA rs3858731 0.46 0.46 0.458 0.466853 0.5099 0.6508 0.3401 0.177 0.7147 0.51 0.69 0.39 0.19 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.971619 1.971619 NA NA NA NA 0.29 NA 4.4901 1203 14 95923806 95923806 T C intronic SYNE3 NA NA NA intronic ENSG00000176438 NA NA NA NA NA 14q32.13 NA NA Name=23 NA rs8007606 0.63 0.63 0.606 0.638578 0.5099 0.5813 0.6945 0.8381 0.5204 0.51 0.59 0.68 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512232 NA NA NA NA NA 0.696 NA 4.4901 1203 1 155006091 155006091 A G exonic DCST2 NA synonymous SNV DCST2:NM_144622:exon1:c.T87C:p.G29G exonic ENSG00000163354 NA synonymous SNV ENSG00000163354:ENST00000295536:exon1:c.T87C:p.G29G,ENSG00000163354:ENST00000368424:exon1:c.T87C:p.G29G,ENSG00000163354:ENST00000485982:exon1:c.T87C:p.G29G NA NA 1q22 NA NA NA NA rs10908453 0.57 0.57 0.534 0.598842 0.3608 0.881 0.6052 0.5416 0.6258 0.36 0.9 0.55 0.53 0.4681 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410262 NA NA 0.348488 0.531548 NA 0.486 NA 4.4892786 1203 3 78717508 78717508 G A intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA Name=TCF4,FOXA1_(C-20) NA NA rs2255164 0.38 0.38 0.352 0.381589 0.5109 0.2252 0.4236 0.3449 0.4294 0.51 0.22 0.46 0.33 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003072 NA NA NA NA NA 0.457 NA 4.4891 1203 6 158658788 158658788 T C intergenic GTF2H5,TULP4 dist=38412;dist=74904 NA NA ncRNA_exonic ENSG00000188451 NA NA NA Score=684;Name=lod=801 NA 6q25.3 NA NA NA NA rs661857 0.51 0.51 0.488 0.461861 0.5109 0.5526 0.5519 0.3464 0.41 0.52 0.58 0.51 0.39 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949032 NA NA NA NA NA 0.464 NA 4.4891 1203 9 29825925 29825925 T C intergenic LINGO2,LOC401497 dist=612927;dist=563008 NA NA ncRNA_exonic ENSG00000230097 NA NA NA Score=738;Name=lod=1331 NA 9p21.1 NA NA NA NA rs10969394 0.44 0.44 0.389 0.361222 0.5109 0.5536 0.5058 0.1006 0.2587 0.53 0.57 0.48 0.11 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030209 NA NA NA NA NA 0.449 NA 4.4891 1203 9 29826502 29826502 A T intergenic LINGO2,LOC401497 dist=613504;dist=562431 NA NA ncRNA_exonic ENSG00000230097 NA NA NA Score=295;Name=lod=21 NA 9p21.1 NA NA NA NA rs10813177 0.47 0.47 0.426 0.414936 0.5109 0.5536 0.5187 0.2806 0.2812 0.53 0.57 0.49 0.25 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674202 NA NA NA NA NA 0.5 NA 4.4891 1203 9 135776034 135776034 C T intronic TSC1 NA NA NA intronic ENSG00000165699 NA NA NA NA Name=Psoriasis 9q34.13 NA NA NA NA rs1076160 0.41 0.41 0.373 0.41234 0.5109 0.5585 0.4496 0.0545 0.6176 0.52 0.55 0.46 0.07 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006948 NA NA NA NA NA 0.355 NA 4.4891 1203 11 6629530 6629530 G A intronic ILK NA NA NA intronic ENSG00000166333 NA NA NA NA NA 11p15.4 NA Name=Pol2 NA NA rs2048092 0.51 0.51 0.51 0.477236 0.5109 0.4355 0.4755 0.553 0.3845 0.51 0.45 0.49 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.873559 NA NA NA NA NA 0.58 NA 4.4891 1203 11 95569183 95569183 G A intronic MTMR2 NA NA NA intronic ENSG00000087053 NA NA NA NA NA 11q21 NA Name=CTCF NA NA rs499637 0.57 0.57 0.606 0.577276 0.5109 0.3442 0.4942 0.9297 0.4683 0.51 0.39 0.54 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819828 NA NA NA NA NA 0.601 NA 4.4891 1203 14 95078677 95078677 G T upstream SERPINA3 NA NA NA UTR5 ENSG00000196136 ENST00000553947:c.-41G>T NA NA NA NA 14q32.13 NA Name=TBP,HEY1,HDAC2_(SC-6296),STAT3,p300,FOXA2_(SC-6554),TCF4,Pol2 Name=58 NA rs1884082 0.48 0.48 0.474 0.446685 0.5109 0.6429 0.3213 0.3185 0.4407 0.51 0.67 0.34 0.31 0.5041 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.098033 NA NA 0.49598 0.34589 NA 0.58 NA 4.48902 1203 11 16505597 16505597 G C intergenic SOX6,C11orf58 dist=7662;dist=254551 NA NA intronic ENSG00000110693 NA NA NA Score=644;Name=lod=554 NA 11p15.1 NA NA NA NA rs11023960 0.28 0.28 0.256 0.315096 0.1779 0.5188 0.219 0.2148 0.4499 0.16 0.52 0.27 0.2 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107801 NA NA NA NA NA 0.254 NA 4.4887667 1203 1 111825754 111825754 C T ncRNA_intronic CHIAP2 NA NA NA ncRNA_intronic ENSG00000203878 NA NA NA NA NA 1p13.2 NA NA NA NA rs4351635 0.21 0.21 0.163 0.217452 0.1779 0.3938 0.366 0.0333 0.2198 0.17 0.33 0.36 0.03 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399559 NA NA NA NA NA 0.109 NA 4.4887666 1203 20 210061 210061 G A exonic DEFB129 NA synonymous SNV DEFB129:NM_080831:exon2:c.G201A:p.L67L exonic ENSG00000125903 NA synonymous SNV ENSG00000125903:ENST00000246105:exon2:c.G201A:p.L67L NA NA 20p13 NA NA NA NA rs13045643 0.28 0.28 0.255 0.270168 0.3907 0.2857 0.3761 0.0333 0.3753 0.39 0.27 0.39 0.04 0.3728 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09941 NA NA 0.414767 0.08965 ID=COSM149121;OCCURENCE=1(stomach) 0.167 NA 4.4883996 1203 9 109932907 109932907 C T intergenic MIR548Q,RAD23B dist=84191;dist=112610 NA NA ncRNA_exonic ENSG00000226535 NA NA NA Score=657;Name=lod=624 NA 9q31.2 NA NA NA NA rs10759213 0.58 0.58 0.569 0.569289 0.5119 0.6538 0.5231 0.5552 0.593 0.52 0.68 0.53 0.57 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.844133 1.844133 NA NA NA NA 0.551 NA 4.4881 1203 22 50694297 50694297 A G exonic MAPK12 NA synonymous SNV MAPK12:NM_002969:exon8:c.T633C:p.S211S exonic ENSG00000188130 NA synonymous SNV ENSG00000188130:ENST00000395780:exon6:c.T363C:p.S121S,ENSG00000188130:ENST00000215659:exon8:c.T633C:p.S211S NA NA 22q13.33 Score=859;Name=V$TAL1BETAITF2_01 NA NA NA rs1129880 0.79 0.79 0.787 0.844649 0.6998 0.869 0.8127 0.9002 0.9162 0.7 0.86 0.77 0.88 0.7746 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705104 NA NA 0.704281 0.862108 NA 0.848 NA 4.4879856 1203 22 38822759 38822759 C T UTR3 KCNJ4 NM_004981:c.*41G>A,NM_152868:c.*41G>A NA NA ncRNA_UTR3 ENSG00000168135 NA NA NA NA NA 22q13.1 NA NA NA NA rs113171101 NA NA NA 0.000798722 0.003 NA NA 0.0008 NA NA NA NA NA 0.0033 0.0064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449821 NA NA 0.006442 0.000457 NA NA NA 4.487258 1203 1 75672376 75672376 A G exonic SLC44A5 NA synonymous SNV SLC44A5:NM_152697:exon24:c.T2076C:p.S692S exonic ENSG00000137968 NA synonymous SNV ENSG00000137968:ENST00000535611:exon21:c.T1686C:p.S562S,ENSG00000137968:ENST00000370855:exon24:c.T2076C:p.S692S NA NA 1p31.1 NA NA NA NA rs1948874 0.48 0.48 0.471 0.440695 0.3966 0.8323 0.4669 0.177 0.4202 0.41 0.85 0.46 0.19 0.4054 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545833 NA NA 0.377558 0.207217 NA 0.471 NA 4.4871086 1203 1 176200923 176200923 C T intergenic RFWD2,PAPPA2 dist=24553;dist=231384 NA NA ncRNA_exonic ENSG00000232463 NA NA NA Score=752;Name=lod=1518 NA 1q25.2 NA NA NA NA rs10798448 0.5 0.5 0.48 0.538738 0.5129 0.5476 0.5245 0.4773 0.6493 0.53 0.53 0.5 0.43 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005522 NA NA NA NA NA 0.377 NA 4.4871 1203 10 101903412 101903412 T C intergenic CPN1,ERLIN1 dist=61770;dist=6435 NA NA ncRNA_exonic ENSG00000270623 NA NA NA Score=577;Name=lod=294 NA 10q24.31 NA NA NA NA rs11190401 0.57 0.57 0.588 0.559105 0.5129 0.5188 0.5159 0.7761 0.3855 0.5 0.51 0.54 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352865 NA NA NA NA NA 0.623 NA 4.4871 1203 12 16552279 16552279 T C intergenic MGST1,LMO3 dist=22156;dist=149027 NA NA ncRNA_exonic ENSG00000256238 NA NA NA Score=587;Name=lod=324 NA 12p12.3 NA NA NA NA rs10772928 0.71 0.71 0.702 0.725439 0.5129 0.9623 0.7003 0.789 0.6319 0.5 0.96 0.67 0.76 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119542 NA NA NA NA NA 0.717 NA 4.4871 1203 13 24697341 24697341 C A intergenic ANKRD20A19P,SPATA13 dist=173887;dist=37520 NA NA ncRNA_exonic ENSG00000225674 NA NA NA Score=801;Name=lod=2409 NA 13q12.12 NA NA NA NA rs2077899 0.49 0.49 0.465 0.481629 0.5129 0.5446 0.5562 0.3056 0.5695 0.53 0.55 0.55 0.31 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07614 NA NA NA NA NA 0.478 NA 4.4871 1203 14 103749368 103749368 T C intergenic LINC00605,EIF5 dist=94003;dist=50971 NA NA ncRNA_exonic ENSG00000240624 NA NA NA Score=747;Name=lod=1442 NA 14q32.32 NA NA NA NA rs11160742 0.6 0.6 0.593 0.614816 0.5129 0.6518 0.6599 0.6581 0.591 0.52 0.67 0.61 0.65 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436903 NA NA NA NA NA 0.529 NA 4.4871 1203 11 32874926 32874926 G A exonic PRRG4 NA synonymous SNV PRRG4:NM_024081:exon6:c.G534A:p.P178P exonic ENSG00000135378 NA synonymous SNV ENSG00000135378:ENST00000257836:exon6:c.G534A:p.P178P NA NA 11p13 NA NA NA NA rs11032025 0.42 0.42 0.422 0.405351 0.3986 0.4127 0.4841 0.3464 0.4284 0.39 0.42 0.5 0.43 0.4 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338412 NA NA 0.381135 0.37307 ID=COSM1353552;OCCURENCE=1(large_intestine) 0.362 NA 4.4869316 1203 6 10514910 10514910 C T intergenic MIR5689,GCNT2 dist=74883;dist=6658 NA NA ncRNA_exonic ENSG00000216359 NA NA NA Score=329;Name=lod=29 NA 6p24.3 NA NA NA NA rs510083 0.6 0.6 0.6 0.611821 0.5139 0.6528 0.5562 0.6172 0.7025 0.52 0.67 0.55 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460589 NA NA NA NA NA 0.558 NA 4.4861 1203 9 124282531 124282531 G A intergenic GGTA1P,DAB2IP dist=20225;dist=46868 NA NA ncRNA_exonic ENSG00000213467 NA NA NA Score=740;Name=lod=1361 NA 9q33.2 NA NA NA NA rs4314715 0.57 0.57 0.52 0.583866 0.5139 0.6409 0.67 0.4803 0.6759 0.53 0.65 0.61 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141426 NA NA NA NA NA 0.514 NA 4.4861 1203 9 124282587 124282587 G A intergenic GGTA1P,DAB2IP dist=20281;dist=46812 NA NA ncRNA_exonic ENSG00000213467 NA NA NA Score=740;Name=lod=1361 NA 9q33.2 NA NA NA NA rs4077202 0.57 0.57 0.522 0.584065 0.5139 0.6419 0.67 0.4803 0.6759 0.53 0.65 0.61 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144181 NA NA NA NA NA 0.507 NA 4.4861 1203 9 124282651 124282651 G A intergenic GGTA1P,DAB2IP dist=20345;dist=46748 NA NA ncRNA_exonic ENSG00000213467 NA NA NA Score=740;Name=lod=1361 NA 9q33.2 NA NA NA NA rs4077201 0.57 0.57 0.538 0.584065 0.5139 0.6419 0.67 0.4803 0.6759 0.53 0.65 0.61 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196534 NA NA NA NA NA 0.514 NA 4.4861 1203 10 57427557 57427557 T C intergenic MTRNR2L5,ZWINT dist=67070;dist=689642 NA NA ncRNA_exonic ENSG00000236993 NA NA NA Score=754;Name=lod=1551 NA 10q21.1 NA NA NA NA rs10825560 0.39 0.39 0.373 0.373203 0.5139 0.4137 0.3559 0.2443 0.3732 0.49 0.41 0.4 0.22 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001921 NA NA NA NA NA 0.428 NA 4.4861 1203 22 31285680 31285680 G A intronic OSBP2 NA NA NA intronic ENSG00000184792 NA NA NA NA NA 22q12.2 NA Name=CEBPB NA NA rs5749186 0.59 0.59 0.568 0.600839 0.5139 0.7609 0.4914 0.6256 0.5695 0.49 0.7 0.55 0.62 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604418 NA NA NA NA NA 0.572 NA 4.4861 1203 3 125643970 125643970 T C ncRNA_intronic FAM86JP NA NA NA ncRNA_intronic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs12489324 0.16 0.16 0.11 0.166134 0.1809 0.1429 0.1427 0.1831 0.1687 0.17 0.11 0.17 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402988 NA NA NA NA NA NA NA 4.4857666 1203 2 153004736 153004736 C T intronic STAM2 NA NA NA intronic ENSG00000115145 NA NA NA Score=407;Name=lod=60 NA 2q23.3 NA NA NA NA rs72864741 0.12 0.12 0.114 0.0988419 0.1809 0.0198 0.1556 0.1021 0.0511 0.18 0.03 0.18 0.09 0.143 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122193 NA NA 0.190509 0.112347 NA 0.21 NA 4.485591 1203 6 101337611 101337611 A G intergenic ASCC3,GRIK2 dist=8387;dist=509250 NA NA ncRNA_exonic ENSG00000270987 NA NA NA Score=419;Name=lod=67 NA 6q16.3 NA NA NA NA rs9498419 0.56 0.56 0.529 0.519169 0.5149 0.75 0.6153 0.4168 0.3558 0.53 0.76 0.56 0.4 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.634581 NA NA NA NA NA 0.529 NA 4.4851 1203 7 44190468 44190468 T G intronic GCK NA NA NA intronic ENSG00000106633 NA NA NA NA NA 7p13 NA Name=HA-E2F1 NA NA rs2268573 0.62 0.62 0.63 0.609026 0.5149 0.627 0.6182 0.7912 0.4346 0.5 0.64 0.59 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838201 NA NA NA NA NA 0.63 NA 4.4851 1203 10 57427515 57427515 C T intergenic MTRNR2L5,ZWINT dist=67028;dist=689684 NA NA ncRNA_exonic ENSG00000236993 NA NA NA Score=754;Name=lod=1551 NA 10q21.1 NA NA NA NA rs10763222 0.42 0.42 0.427 0.409744 0.5149 0.4137 0.3602 0.3797 0.3732 0.49 0.41 0.41 0.34 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124143 NA NA NA NA NA 0.471 NA 4.4851 1204 17 65110436 65110436 A G intronic HELZ NA NA NA intronic ENSG00000198265 NA NA NA Score=414;Name=lod=64 NA 17q24.2 NA NA NA NA rs2302158 0.18 0.18 0.173 0.192292 0.1769 0.1984 0.1614 0.2352 0.1656 0.18 0.2 0.14 0.21 0.1755 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135026 NA NA 0.163121 0.227322 NA 0.188 NA 4.484479 1204 1 157043732 157043732 A G intergenic ARHGEF11,ETV3L dist=28570;dist=18103 NA NA ncRNA_exonic ENSG00000224520 NA NA NA Score=760;Name=lod=1633 NA 1q23.1 NA NA NA NA rs56389633 0.37 0.37 0.322 0.371805 0.5159 0.254 0.428 0.2572 0.4601 0.52 0.24 0.47 0.21 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326003 NA NA NA NA NA 0.348 NA 4.4841 1204 2 220330724 220330724 C T intronic SPEG NA NA NA intronic ENSG00000072195 NA NA NA Score=680;Name=lod=770 NA 2q35 NA NA NA NA rs1567488 0.44 0.44 0.38 0.419329 0.5159 0.6736 0.4856 0.0651 0.4898 0.5 0.66 0.48 0.08 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.941001 NA NA NA NA NA 0.29 NA 4.4841 1204 22 25083454 25083454 G A intergenic POM121L10P,PIWIL3 dist=28340;dist=31547 NA NA ncRNA_exonic ENSG00000224334 NA NA NA Score=834;Name=lod=3271 NA 22q11.23 NA NA NA NA rs6004237 0.56 0.56 0.534 0.609225 0.5159 0.5466 0.6383 0.6225 0.7311 0.49 0.54 0.63 0.62 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171402 NA NA NA NA NA 0.594 NA 4.4841 1204 2 36810586 36810586 T C exonic FEZ2 NA synonymous SNV FEZ2:NM_001042548:exon3:c.A402G:p.T134T,FEZ2:NM_005102:exon3:c.A402G:p.T134T exonic ENSG00000171055 NA synonymous SNV ENSG00000171055:ENST00000357996:exon3:c.A99G:p.T33T,ENSG00000171055:ENST00000379245:exon3:c.A402G:p.T134T,ENSG00000171055:ENST00000405912:exon3:c.A402G:p.T134T,ENSG00000171055:ENST00000413938:exon3:c.A99G:p.T33T,ENSG00000171055:ENST00000451623:exon3:c.A402G:p.T134T NA NA 2p22.2 NA NA NA NA rs14291 0.43 0.43 0.403 0.428714 0.4115 0.4147 0.5144 0.4478 0.3742 0.41 0.39 0.49 0.46 0.4047 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602454 NA NA 0.366892 0.442517 NA 0.601 NA 4.4835746 1204 7 111970342 111970342 A G intronic ZNF277 NA NA NA exonic ENSG00000198839 NA synonymous SNV ENSG00000198839:ENST00000450657:exon7:c.A872G:p.X291X NA NA 7q31.1 NA NA NA NA rs11773393 0.17 0.17 0.164 0.167332 0.1421 0.1419 0.1023 0.2617 0.138 0.14 0.14 0.09 0.29 0.2078 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261988 NA NA NA NA NA 0.188 NA 4.4834333 1204 16 89620148 89620148 A G intronic SPG7 NA NA NA exonic ENSG00000197912 NA synonymous SNV ENSG00000197912:ENST00000561911:exon5:c.A483G:p.A161A NA NA 16q24.3 NA NA NA NA rs730264 0.18 0.18 0.18 0.180312 0.169 0.1359 0.1254 0.2617 0.1667 0.17 0.13 0.13 0.27 0.1812 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294301 NA NA NA NA NA 0.159 NA 4.4831333 1204 5 141304314 141304314 T A intronic KIAA0141 NA NA NA intronic ENSG00000081791 NA NA NA NA NA 5q31.3 NA Name=Pol2 NA NA rs6580206 0.66 0.66 0.656 0.715855 0.5169 0.7669 0.6744 0.8396 0.7301 0.5 0.81 0.63 0.77 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875699 NA NA NA NA NA 0.507 NA 4.4831 1204 6 30576781 30576781 G C intronic PPP1R10 NA NA NA intronic ENSG00000204569 NA NA NA NA NA 6p21.33 NA Name=Pol2 NA NA rs1264419 0.59 0.59 0.63 0.667332 0.5169 0.5863 0.4928 0.8253 0.816 0.51 0.57 0.5 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268141 NA NA NA NA NA 0.696 NA 4.4831 1204 22 25083697 25083697 G A intergenic POM121L10P,PIWIL3 dist=28583;dist=31304 NA NA ncRNA_exonic ENSG00000224334 NA NA NA Score=834;Name=lod=3271 NA 22q11.23 NA NA NA NA rs4822531 0.56 0.56 0.607 0.67492 0.5169 0.5466 0.6585 0.8601 0.7311 0.44 0.52 0.6 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126025 NA NA NA NA NA 0.732 NA 4.4831 1204 9 131771505 131771505 C T exonic SH3GLB2 NA synonymous SNV SH3GLB2:NM_020145:exon10:c.G960A:p.P320P exonic ENSG00000148341 NA synonymous SNV ENSG00000148341:ENST00000416629:exon9:c.G897A:p.P299P,ENSG00000148341:ENST00000372559:exon10:c.G960A:p.P320P,ENSG00000148341:ENST00000372564:exon10:c.G960A:p.P320P,ENSG00000148341:ENST00000417224:exon11:c.G975A:p.P325P,ENSG00000148341:ENST00000372554:exon12:c.G987A:p.P329P NA NA 9q34.11 NA NA NA NA rs1129098 0.27 0.27 0.227 0.255791 0.4135 0.1696 0.3991 0.0885 0.3067 0.42 0.15 0.38 0.11 0.4119 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025453 NA NA 0.359022 0.116978 NA 0.319 NA 4.4822446 1204 6 24701860 24701860 C G UTR3 ACOT13 NM_018473:c.*17C>G,NM_001160094:c.*17C>G NA NA ncRNA_exonic ENSG00000272345 NA NA NA NA NA 6p22.3 NA NA NA NA rs144752694 0.0023 0.0023 0 0.00139776 0.007 NA NA NA NA 0.01 NA NA NA 0.0053 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.361227 1.361227 NA 0.00593 0.001135 NA NA NA 4.48177 1204 9 36303536 36303536 G A intergenic GNE,RNF38 dist=26483;dist=32863 NA NA ncRNA_exonic ENSG00000215283 NA NA NA Score=516;Name=lod=166 NA 9p13.2 NA NA NA NA rs10972835 0.46 0.46 0.451 0.458267 0.5189 0.3968 0.3934 0.447 0.5204 0.52 0.35 0.42 0.5 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12553 NA NA NA NA NA 0.384 NA 4.4811 1204 17 28728401 28728401 C T intronic CPD NA NA NA intronic ENSG00000108582 NA NA NA NA NA 17q11.2 NA NA Name=3 NA rs7209857 0.64 0.64 0.67 0.68151 0.5189 0.8234 0.5331 0.8585 0.5685 0.51 0.75 0.51 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054555 NA NA NA NA NA 0.543 NA 4.4811 1204 1 26650550 26650550 C A intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA Name=Obesity-related traits 1p36.11 NA NA NA NA rs11247915 0.34 0.34 0.343 0.309904 0.5199 0.0724 0.2637 0.4024 0.2464 0.53 0.06 0.3 0.39 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452743 1.452743 NA NA NA NA 0.312 NA 4.4801 1204 10 111440605 111440605 A G intergenic RNU6-53P,XPNPEP1 dist=441115;dist=183919 NA NA ncRNA_exonic ENSG00000270294 NA NA NA Score=634;Name=lod=505 NA 10q25.1 NA NA NA NA rs7898586 0.38 0.38 0.37 0.329073 0.5199 0.2411 0.3545 0.2859 0.2638 0.53 0.26 0.39 0.3 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.2438 4.2438 NA NA NA NA 0.304 NA 4.4801 1204 10 111440719 111440719 T A intergenic RNU6-53P,XPNPEP1 dist=441229;dist=183805 NA NA ncRNA_exonic ENSG00000270294 NA NA NA Score=634;Name=lod=505 NA 10q25.1 NA NA NA NA rs7915504 0.38 0.38 0.381 0.329273 0.5199 0.2411 0.3545 0.2867 0.2638 0.53 0.26 0.39 0.3 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.661785 4.661785 NA NA NA NA 0.304 NA 4.4801 1204 11 4870139 4870139 G A exonic OR51S1 NA synonymous SNV OR51S1:NM_001004758:exon1:c.C300T:p.V100V exonic ENSG00000176922 NA synonymous SNV ENSG00000176922:ENST00000322101:exon1:c.C300T:p.V100V NA NA 11p15.4 NA NA NA NA rs11602455 0.23 0.23 0.204 0.238618 0.4046 0.0675 0.2421 0.1203 0.4018 0.4 0.06 0.31 0.13 0.3527 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137581 NA NA 0.429269 0.170377 NA 0.225 NA 4.4800976 1204 22 26193982 26193982 C G exonic MYO18B NA synonymous SNV MYO18B:NM_032608:exon12:c.C2439G:p.L813L exonic ENSG00000133454 NA synonymous SNV ENSG00000133454:ENST00000335473:exon12:c.C2439G:p.L813L,ENSG00000133454:ENST00000407587:exon12:c.C2439G:p.L813L,ENSG00000133454:ENST00000536101:exon12:c.C2439G:p.L813L Score=383;Name=lod=48 NA 22q12.1 NA NA NA NA rs738642 0.68 0.68 0.654 0.684305 0.7217 0.879 0.7363 0.3888 0.8078 0.72 0.9 0.7 0.37 0.7296 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648719 NA NA 0.735897 0.462755 NA 0.601 NA 4.4794696 1204 2 202633582 202633582 A G intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA Score=502;Name=lod=146 NA 2q33.1 NA NA NA NA rs3219153 0.24 0.24 0.244 0.262181 0.1789 0.4008 0.1081 0.205 0.3916 0.2 0.4 0.1 0.23 0.199 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095723 NA NA 0.142962 0.179281 NA 0.225 NA 4.479138 1204 1 108299809 108299809 G A intronic VAV3 NA NA NA intronic ENSG00000134215 NA NA NA NA NA 1p13.3 NA Name=ERalpha_a NA NA rs12138353 0.46 0.46 0.138 0.494609 0.5209 0.3641 0.5375 0.4826 0.5879 0.52 0.35 0.52 0.44 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.990298 NA NA NA NA NA 0.152 NA 4.4791 1204 22 25083170 25083170 G A intergenic POM121L10P,PIWIL3 dist=28056;dist=31831 NA NA ncRNA_exonic ENSG00000224334 NA NA NA Score=834;Name=lod=3271 NA 22q11.23 NA NA NA NA rs5760581 0.52 0.52 0.487 0.550519 0.5209 0.4554 0.6455 0.5575 0.6022 0.49 0.44 0.62 0.57 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.064103 2.064103 NA NA NA NA 0.565 NA 4.4791 1204 10 27540647 27540647 G A ncRNA_exonic LRRC37A6P NA NA NA ncRNA_exonic ENSG00000230445 NA NA NA NA NA 10p12.1 NA NA NA NA rs12774718 0.16 0.16 0.135 0.137979 0.1879 0.0149 0.281 0.1846 0.0491 0.19 0.03 0.26 0.19 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000695 NA NA NA NA NA 0.232 NA 4.4787666 1204 1 94471154 94471154 C T intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs4147863 0.16 0.16 0.151 0.140974 0.1789 0.121 0.1282 0.1536 0.1145 0.17 0.16 0.14 0.16 0.1595 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318641 1.318641 NA 0.182907 0.155243 ID=COSN163159;OCCURENCE=1(breast) 0.145 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085783.2;CLNDSDB=.;CLNDSDBID=. 4.478693 1204 2 153733922 153733922 T A intergenic ARL6IP6,RPRM dist=116155;dist=599930 NA NA ncRNA_exonic ENSG00000226213 NA NA NA Score=682;Name=lod=787 NA 2q23.3 NA NA NA NA rs1427395 0.4 0.4 0.379 0.373802 0.5219 0.2679 0.3343 0.2927 0.4683 0.53 0.28 0.39 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021225 NA NA NA NA NA 0.486 NA 4.4781 1204 6 29912473 29912473 T C intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs9260196 0.49 0.49 0.37 0.533147 0.5219 0.4871 0.5994 0.6029 0.4509 0.46 0.43 0.51 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236809 NA NA NA NA NA 0.152 NA 4.4781 1204 6 29912477 29912477 A G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs9260197 0.49 0.49 0.37 0.533347 0.5219 0.4871 0.5994 0.6029 0.4519 0.46 0.43 0.5 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577122 NA NA NA NA NA 0.159 NA 4.4781 1204 7 30538651 30538651 T C intronic GGCT NA NA NA intronic ENSG00000006625 NA NA NA NA NA 7p14.3 NA NA NA NA rs38409 0.68 0.68 0.663 0.665535 0.7853 0.6964 0.7608 0.5159 0.6452 0.77 0.62 0.79 0.52 0.7366 0.79 . . 0.007 B 0.003 B . . 1.000 P . . . . -1.006 T 0.000 T . 0.768 8.062 2.18 0.493 0.641 4.937 0.768332 NA 0.97 NA NA NA 0.587 NA 4.4781 1204 20 36959353 36959353 A G intronic BPI NA NA NA intronic ENSG00000101425 NA NA NA NA NA 20q11.23 NA Name=SP1,HDAC2_(SC-6296) NA NA rs5743534 0.41 0.41 0.411 0.442292 0.5219 0.253 0.5 0.4319 0.5286 0.52 0.19 0.46 0.44 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1456 NA NA NA NA NA 0.406 NA 4.4781 1204 9 33245076 33245076 G A intronic SPINK4 NA NA NA intronic ENSG00000122711 NA NA NA NA NA 9p13.3 Score=760;Name=V$PPARA_01 NA NA NA rs480583 0.2 0.2 0.189 0.195687 0.1869 0.1627 0.1888 0.2405 0.183 0.18 0.17 0.23 0.23 0.1716 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961289 NA NA 0.164302 0.246255 NA 0.188 NA 4.477198 1204 11 46760756 46760756 G A intronic F2 NA NA NA intronic ENSG00000180210 NA NA NA NA NA 11p11.2 NA Name=Pol2 NA NA rs3136516 0.3 0.3 0.265 0.282947 0.5229 0.1796 0.4654 0.0234 0.364 0.51 0.19 0.44 0.03 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.243524 2.243524 NA NA NA NA 0.442 NA 4.4771 1204 3 125644009 125644009 G A ncRNA_intronic FAM86JP NA NA NA ncRNA_intronic ENSG00000171084 NA NA NA NA NA 3q21.2 NA NA NA NA rs12485974 0.23 0.23 0.182 0.266573 0.1899 0.1062 0.17 0.5779 0.1585 0.17 0.1 0.18 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629203 NA NA NA NA NA 0.014 NA 4.4767666 1204 12 13366599 13366599 C T intronic EMP1 NA NA NA intronic ENSG00000134531 NA NA NA NA NA 12p13.1 NA NA Name=8 NA rs2277395 0.12 0.12 0.101 0.100839 0.159 0.122 0.098 0.0053 0.1503 0.15 0.16 0.1 0.01 0.16 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262799 NA NA 0.204302 0.038584 NA 0.116 NA 4.476698 1204 19 14975040 14975040 G A intergenic OR7A10,OR7A17 dist=22351;dist=16198 NA NA ncRNA_exonic ENSG00000172148 NA NA NA NA NA 19p13.12 NA NA NA NA rs10407682 0.34 0.34 0.389 0.342851 0.2505 0.3006 0.2392 0.6074 0.1973 0.26 0.29 0.23 0.57 0.273 0.57 0.07 T . . . . 0.301 U 0.998 P . . . . -0.930 T 0.000 T . -1.223 0.061 1.19 0.165 -0.448 5.169 -1.222946 NA 0.1 NA NA NA 0.536 NA 4.4765 1204 11 66001418 66001418 C T intronic PACS1 NA NA NA intronic ENSG00000175115 NA NA NA NA NA 11q13.2 NA NA NA NA rs2236651 0.2 0.2 0.194 0.211062 0.174 0.2887 0.1383 0.2375 0.1851 0.18 0.28 0.14 0.19 0.1792 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821223 NA NA 0.170664 0.221364 NA 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117886.2;CLNDSDB=.;CLNDSDBID=. 4.476136 1204 9 34918201 34918201 G A intergenic FAM205B,KIAA1045 dist=79618;dist=39991 NA NA ncRNA_exonic ENSG00000178723 NA NA NA Score=592;Name=lod=339 NA 9p13.3 NA NA NA NA rs4879836 0.42 0.42 0.386 0.373003 0.5239 0.3462 0.4798 0.3048 0.2618 0.51 0.36 0.45 0.31 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721298 NA NA NA NA NA 0.565 NA 4.4761 1204 10 91738556 91738556 C A intergenic LINC00865,HTR7 dist=137938;dist=762020 NA NA ncRNA_exonic ENSG00000228938 NA NA NA Score=454;Name=lod=93 NA 10q23.31 NA NA NA NA rs10785923 0.67 0.67 0.628 0.702077 0.5239 0.9772 0.7003 0.528 0.8384 0.54 0.98 0.67 0.53 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358445 NA NA NA NA NA 0.5 NA 4.4761 1204 12 4745313 4745313 C T intronic AKAP3 NA NA NA intronic ENSG00000111254,ENSG00000139180 NA NA NA Score=635;Name=lod=509 NA 12p13.32 NA NA NA NA rs2267546 0.42 0.42 0.382 0.388978 0.5239 0.369 0.5893 0.1876 0.4008 0.54 0.37 0.56 0.21 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218282 NA NA NA NA NA 0.471 NA 4.4761 1204 17 40737043 40737043 G C intronic FAM134C NA NA NA intronic ENSG00000141699 NA NA NA NA NA 17q21.2 NA NA Name=5 NA rs9889580 0.54 0.54 0.552 0.590855 0.5239 0.4692 0.5159 0.7156 0.6697 0.53 0.47 0.47 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042841 NA NA NA NA NA 0.667 NA 4.4761 1204 4 69433714 69433714 C T exonic UGT2B17 NA synonymous SNV UGT2B17:NM_001077:exon1:c.G489A:p.E163E exonic ENSG00000197888 NA synonymous SNV ENSG00000197888:ENST00000317746:exon1:c.G489A:p.E163E NA NA 4q13.2 NA NA NA NA rs34664906 0.3 0.3 0.3 0.282947 0.3549 0.0476 0.4798 0.3306 0.2474 0.36 0.16 0.46 0.28 0.4171 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286259 NA NA 0.418837 0.335246 NA 0.145 NA 4.4758296 1204 15 89391160 89391160 C A exonic ACAN NA synonymous SNV ACAN:NM_001135:exon9:c.C1623A:p.P541P,ACAN:NM_013227:exon9:c.C1623A:p.P541P exonic ENSG00000157766 NA synonymous SNV ENSG00000157766:ENST00000561243:exon8:c.C1623A:p.P541P,ENSG00000157766:ENST00000352105:exon9:c.C1623A:p.P541P,ENSG00000157766:ENST00000439576:exon9:c.C1623A:p.P541P,ENSG00000157766:ENST00000558207:exon9:c.C1623A:p.P541P,ENSG00000157766:ENST00000559004:exon9:c.C1623A:p.P541P NA NA 15q26.1 Score=836;Name=V$ARP1_01 NA NA NA rs2272023 0.67 0.67 0.694 0.694289 0.7406 0.4802 0.6138 0.8918 0.6575 0.74 0.44 0.64 0.87 0.6958 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931716 NA NA 0.754945 0.8843 ID=COSM147968;OCCURENCE=1(stomach) 0.71 NA 4.4753216 1204 7 43484310 43484310 T C exonic HECW1 NA synonymous SNV HECW1:NM_015052:exon11:c.T1539C:p.S513S exonic ENSG00000002746 NA synonymous SNV ENSG00000002746:ENST00000453890:exon10:c.T1539C:p.S513S,ENSG00000002746:ENST00000395891:exon11:c.T1539C:p.S513S NA NA 7p13 NA NA NA NA rs73098706 0.29 0.29 0.283 0.295128 0.4155 0.1508 0.2839 0.2307 0.4151 0.43 0.15 0.32 0.21 0.3879 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671067 NA NA 0.387994 0.244006 NA 0.377 NA 4.4752726 1204 11 110306727 110306727 G T intronic FDX1 NA NA NA intronic ENSG00000137714 NA NA NA NA NA 11q22.3 NA NA Name=3 NA rs4754453 0.12 0.12 0.099 0.10004 0.1978 0.0377 0.111 0.0998 0.0562 0.2 0.03 0.13 0.08 0.1453 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471058 NA NA 0.181638 0.10109 NA 0.13 NA 4.475262 1204 2 160708645 160708645 C G intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA Name=2 NA rs2162500 0.35 0.35 0.353 0.289936 0.5249 0.2907 0.3285 0.1626 0.1922 0.52 0.28 0.34 0.17 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364826 NA NA NA NA NA 0.348 NA 4.4751 1205 2 12164246 12164246 C T intergenic MIR4262,TRIB2 dist=187134;dist=692752 NA NA ncRNA_intronic ENSG00000224184 NA NA NA Score=679;Name=lod=768 NA 2p25.1 NA NA NA NA rs4669797 0.46 0.46 0.428 0.471845 0.5258 0.5972 0.4986 0.1392 0.7178 0.54 0.59 0.48 0.17 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234982 NA NA NA NA NA 0.391 NA 4.4742 1205 9 34922856 34922856 A G intergenic FAM205B,KIAA1045 dist=84273;dist=35336 NA NA ncRNA_exonic ENSG00000215199 NA NA NA Score=580;Name=lod=304 NA 9p13.3 NA NA NA NA rs10120934 0.42 0.42 0.389 0.383387 0.5258 0.3472 0.4827 0.3139 0.2975 0.51 0.36 0.45 0.33 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.726116 1.726116 NA NA NA NA 0.572 NA 4.4742 1205 11 124386783 124386783 A G intergenic OR8B8,OR8B12 dist=75802;dist=25835 NA NA ncRNA_exonic ENSG00000254646 NA NA NA Score=358;Name=lod=38 NA 11q24.2 NA NA NA NA rs7111616 0.69 0.69 0.676 0.708267 0.5258 0.7599 0.6945 0.9092 0.5808 0.52 0.75 0.67 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.625451 NA NA NA NA NA 0.667 NA 4.4742 1205 19 16100918 16100918 G A intergenic OR10H4,LINC00661 dist=40150;dist=25526 NA NA ncRNA_intronic ENSG00000267392 NA NA NA NA NA 19p13.12 NA Name=NRSF NA NA rs4808419 0.39 0.39 0.351 0.381789 0.5258 0.3125 0.5274 0.121 0.5542 0.52 0.34 0.56 0.14 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180075 NA NA NA NA NA 0.348 NA 4.4742 1205 6 52658962 52658962 T C exonic GSTA1 NA synonymous SNV GSTA1:NM_145740:exon5:c.A375G:p.K125K exonic ENSG00000243955 NA synonymous SNV ENSG00000243955:ENST00000334575:exon5:c.A375G:p.K125K NA NA 6p12.2 NA NA NA NA rs1051775 0.25 0.25 0.222 0.228035 0.4235 0.1369 0.2695 0.0424 0.3425 0.43 0.14 0.3 0.06 0.3437 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310843 NA NA 0.425349 0.108034 NA 0.239 NA 4.4741176 1205 3 52228150 52228150 A T intergenic POC1A,ALAS1 dist=39444;dist=3949 NA NA ncRNA_exonic ENSG00000242849 NA NA NA Score=694;Name=lod=882 NA 3p21.2 NA NA NA NA rs411457 0.45 0.45 0.449 0.410743 0.5268 0.3919 0.4971 0.3018 0.3967 0.52 0.43 0.51 0.34 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075088 NA NA NA NA NA 0.37 NA 4.4732 1205 5 53155688 53155688 C T intergenic NDUFS4,ARL15 dist=176517;dist=24926 NA NA ncRNA_exonic ENSG00000217791 NA NA NA Score=641;Name=lod=538 NA 5q11.2 NA NA NA NA rs271253 0.44 0.44 0.387 0.430112 0.5268 0.2877 0.5677 0.3737 0.456 0.54 0.29 0.55 0.4 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411263 1.411263 NA NA NA NA 0.493 NA 4.4732 1205 5 126507584 126507584 G A intergenic C5orf63,MEGF10 dist=98400;dist=118872 NA NA ncRNA_exonic ENSG00000250080 NA NA NA Score=762;Name=lod=1663 NA 5q23.2 NA NA NA NA rs248080 0.46 0.46 0.486 0.442492 0.5268 0.3571 0.3963 0.4849 0.4192 0.51 0.39 0.45 0.47 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.721693 1.721693 NA NA NA NA 0.413 NA 4.4732 1205 5 150843996 150843996 T C intronic SLC36A1 NA NA NA intronic ENSG00000123643 NA NA NA NA NA 5q33.1 NA Name=eGFP-GATA2,GATA2_(CG2-96),GATA-1,TAL1_(SC-12984) NA NA rs415426 0.57 0.57 0.576 0.60603 0.5268 0.6577 0.4222 0.649 0.7065 0.52 0.63 0.47 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455473 NA NA NA NA NA 0.551 NA 4.4732 1205 9 15527569 15527569 G A intergenic PSIP1,CCDC171 dist=16566;dist=25528 NA NA ncRNA_exonic ENSG00000213362 NA NA NA Score=762;Name=lod=1673 NA 9p22.3 NA NA NA NA rs28709032 0.54 0.54 0.532 0.523962 0.5268 0.4861 0.5836 0.6172 0.3916 0.54 0.51 0.57 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204183 NA NA NA NA NA 0.536 NA 4.4732 1205 9 90432843 90432843 T C intergenic CTSL3P,CTSL1P8 dist=31044;dist=26817 NA NA ncRNA_exonic ENSG00000232743 NA NA NA Score=412;Name=lod=63 NA 9q22.1 NA NA NA NA rs7857111 0.43 0.43 0.423 0.398163 0.5268 0.2639 0.415 0.4682 0.2975 0.52 0.24 0.45 0.49 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091282 NA NA NA NA NA 0.348 NA 4.4732 1205 21 47532544 47532544 C T intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 Score=825;Name=V$EGR2_01 NA NA NA rs1010688 0.42 0.42 0.386 0.373802 0.5268 0.4018 0.6282 0.1301 0.3364 0.54 0.38 0.6 0.14 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167409 NA NA NA NA NA 0.326 NA 4.4732 1205 17 15905190 15905190 A G intronic TTC19 NA NA NA intronic ENSG00000011295 NA NA NA NA NA 17p12 NA Name=SETDB1 Name=22 NA rs3760298 0.36 0.36 0.342 0.346645 0.5298 0.1538 0.4438 0.2973 0.3548 0.52 0.14 0.45 0.32 0.4612 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378853 1.378853 NA 0.53593 0.325919 NA 0.341 NA 4.47307 1205 22 23980968 23980968 T A ncRNA_exonic GUSBP11 NA NA NA ncRNA_exonic ENSG00000211683,ENSG00000228315,ENSG00000234353 NA NA NA NA NA 22q11.23 NA NA NA NA rs13056126 0.23 0.23 0.223 0.228435 0.1938 0.3363 0.1772 0.1838 0.2495 0.22 0.33 0.18 0.17 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883223 NA NA NA NA NA 0.188 NA 4.4728666 1205 22 23995561 23995561 T C ncRNA_intronic GUSBP11 NA NA NA ncRNA_intronic ENSG00000228315 NA NA NA NA NA 22q11.23 NA NA NA NA rs8136455 0.33 0.33 0.332 0.346046 0.1938 0.3353 0.2061 0.6067 0.2607 0.21 0.34 0.21 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310881 NA NA NA NA NA 0.384 NA 4.4728666 1205 14 93170741 93170741 T C intronic LGMN NA NA NA intronic ENSG00000100600 NA NA NA NA NA 14q32.12 NA Name=Max,NFKB,PAX5-C20 Name=16 NA rs2250672 0.56 0.56 0.552 0.562101 0.507 0.4563 0.6715 0.7156 0.4427 0.51 0.47 0.63 0.71 0.5217 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174532 NA NA 0.498721 0.684521 NA 0.493 NA 4.472579 1205 1 79215225 79215225 G A intergenic IFI44,ELTD1 dist=85462;dist=140224 NA NA ncRNA_exonic ENSG00000235400 NA NA NA Score=405;Name=lod=59 NA 1p31.1 NA NA NA NA rs1625911 0.67 0.67 0.659 0.663738 0.5278 0.7599 0.7349 0.6959 0.6104 0.54 0.81 0.7 0.7 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.203266 NA NA NA NA NA 0.63 NA 4.4722 1205 3 195723586 195723586 G A intergenic SDHAP1,TFRC dist=6436;dist=52569 NA NA upstream ENSG00000231464 NA NA NA Score=738;Name=lod=1327 NA 3q29 NA NA NA NA rs56022806 0.04 0.04 NA 0.0179712 0.0278 0.0079 0.0144 0.0008 0.044 0.08 0.01 0.08 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030405 NA NA NA NA NA NA NA 4.4722 1205 6 85448103 85448103 C T intronic TBX18 NA NA NA intronic ENSG00000112837 NA NA NA NA NA 6q14.3 NA Name=JunD NA NA rs761391 0.41 0.41 0.38 0.40635 0.5278 0.3234 0.5288 0.2277 0.5215 0.54 0.31 0.49 0.25 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696187 NA NA NA NA NA 0.406 NA 4.4722 1205 19 46026970 46026970 T A intronic VASP NA NA NA intronic ENSG00000125753 NA NA NA NA NA 19q13.32 NA Name=BCLAF1_(M33-P5B11),IRF4_(M-17),PU.1,CTCF,ELF1_(SC-631),Pol2-4H8,Egr-1,BCL3,NFKB NA NA rs11880111 0.26 0.26 0.248 0.285942 0.1431 0.3651 0.2997 0.3177 0.2986 0.16 0.34 0.24 0.35 0.218 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002626 NA NA 0.166977 0.294371 NA 0.225 NA 4.471923 1205 17 4608275 4608275 A G upstream PELP1 NA NA NA ncRNA_exonic ENSG00000213939 NA NA NA Score=715;Name=lod=1070 NA 17p13.2 NA NA NA NA rs2174831 0.68 0.68 0.647 0.679712 0.6948 0.8284 0.7219 0.4274 0.8221 0.72 0.85 0.72 0.4 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103016 NA NA NA NA NA 0.551 NA 4.4718666 1205 22 23994781 23994781 A G ncRNA_intronic GUSBP11 NA NA NA ncRNA_intronic ENSG00000228315,ENSG00000244723 NA NA NA NA NA 22q11.23 NA NA NA NA rs9624263 0.38 0.38 0.405 0.40595 0.1948 0.38 0.2233 0.7474 0.318 0.21 0.37 0.23 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20053 NA NA NA NA NA 0.413 NA 4.4718666 1205 2 101042122 101042122 T G intergenic CHST10,NMS dist=7992;dist=44822 NA NA ncRNA_exonic ENSG00000238029 NA NA NA Score=845;Name=lod=3610 NA 2q11.2 NA NA NA NA rs7590388 0.62 0.62 0.612 0.634185 0.5288 0.7639 0.5879 0.73 0.5123 0.52 0.75 0.56 0.69 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094245 NA NA NA NA NA 0.623 NA 4.4712 1205 2 233310149 233310149 A G intergenic ALPPL2,ALPI dist=34725;dist=10684 NA NA ncRNA_exonic ENSG00000223788 NA NA NA Score=537;Name=lod=203 NA 2q37.1 NA NA NA NA rs790044 0.57 0.57 0.544 0.602835 0.5288 0.631 0.5922 0.5794 0.6892 0.54 0.63 0.55 0.54 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201352 NA NA NA NA NA 0.471 NA 4.4712 1205 4 2822289 2822289 C A intronic SH3BP2 NA NA NA intronic ENSG00000087266 NA NA NA NA NA 4p16.3 NA Name=Pol2 NA NA rs2239727 0.52 0.52 0.5 0.539137 0.5288 0.4712 0.5735 0.5492 0.5818 0.52 0.45 0.58 0.54 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.482228 NA NA NA NA NA 0.478 NA 4.4712 1205 5 126515540 126515540 A G intergenic C5orf63,MEGF10 dist=106356;dist=110916 NA NA ncRNA_exonic ENSG00000250956 NA NA NA Score=581;Name=lod=306 NA 5q23.2 NA NA NA NA rs116724 0.5 0.5 0.525 0.486222 0.5288 0.3562 0.4121 0.6415 0.4192 0.51 0.39 0.47 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373849 NA NA NA NA NA 0.457 NA 4.4712 1205 11 125851300 125851300 T C intronic CDON NA NA NA intronic ENSG00000064309 NA NA NA Score=340;Name=lod=32 NA 11q24.2 NA NA NA NA rs624070 0.53 0.53 0.546 0.527756 0.5288 0.373 0.4625 0.6914 0.5112 0.54 0.41 0.49 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490869 NA NA NA NA NA 0.493 NA 4.4712 1205 15 78189075 78189075 G A intergenic LOC253044,LOC645752 dist=247494;dist=17484 NA NA ncRNA_exonic ENSG00000260139 NA NA NA NA NA 15q24.3 Score=804;Name=V$GFI1_01 NA NA NA rs4569232 0.45 0.45 0.473 0.435104 0.5288 0.5337 0.3501 0.3048 0.4734 0.54 0.53 0.38 0.28 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546638 NA NA NA NA NA 0.29 NA 4.4712 1205 15 91428197 91428197 T C intronic FES NA NA NA intronic ENSG00000182511 NA NA NA NA NA 15q26.1 NA NA Name=9 NA rs2071382 0.64 0.64 0.61 0.640575 0.5288 0.8105 0.7392 0.5651 0.6125 0.52 0.83 0.72 0.54 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978763 NA NA NA NA NA 0.478 NA 4.4712 1205 4 2826400 2826400 T C exonic SH3BP2 NA synonymous SNV SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H exonic ENSG00000087266 NA synonymous SNV ENSG00000087266:ENST00000356331:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000435136:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000442312:exon4:c.T384C:p.H128H,ENSG00000087266:ENST00000452765:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000503393:exon4:c.T471C:p.H157H,ENSG00000087266:ENST00000504294:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000508385:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000511747:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000512014:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000513095:exon4:c.T300C:p.H100H,ENSG00000087266:ENST00000502260:exon5:c.T300C:p.H100H,ENSG00000087266:ENST00000503219:exon5:c.T300C:p.H100H Score=504;Name=lod=149 NA 4p16.3 NA NA NA NA rs3213501 0.74 0.74 0.76 0.78754 0.7197 0.5546 0.8271 0.9871 0.7996 0.72 0.53 0.79 0.98 0.7538 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.482899 1.482899 NA 0.722674 0.942578 NA 0.754 NA 4.4704926 1205 2 103028041 103028041 G T intergenic IL18R1,IL18RAP dist=12824;dist=7213 NA NA ncRNA_exonic ENSG00000236785 NA NA NA Score=709;Name=lod=1011 NA 2q12.1 NA NA NA NA rs7559566 NA NA NA 0.433906 0.5298 0.1687 0.3401 0.7474 0.2515 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166752 NA NA NA NA NA NA NA 4.4702 1205 19 55142101 55142101 G A intronic LILRB1 NA NA NA UTR5 ENSG00000104972 ENST00000427581:c.-316G>A NA NA NA NA 19q13.42 NA Name=Pol2-4H8 NA NA rs3760861 0.47 0.47 0.452 0.45028 0.3022 0.5982 0.4841 0.5537 0.2863 0.3 0.59 0.45 0.59 0.3946 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991219 NA NA NA NA NA 0.493 NA 4.4698667 1205 3 36779707 36779707 G A exonic DCLK3 NA synonymous SNV DCLK3:NM_033403:exon2:c.C444T:p.L148L exonic ENSG00000163673 NA synonymous SNV ENSG00000163673:ENST00000416516:exon2:c.C444T:p.L148L NA NA 3p22.2 NA NA NA NA rs3796187 0.28 0.28 0.238 0.246006 0.4076 0.1687 0.3847 0.0681 0.3016 0.44 0.17 0.38 0.1 0.3578 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210796 NA NA 0.43156 0.135156 ID=COSM149353;OCCURENCE=1(stomach) 0.304 NA 4.4697066 1205 3 12112010 12112010 G A intronic SYN2 NA NA NA ncRNA_exonic ENSG00000226642 NA NA NA Score=858;Name=lod=4087 NA 3p25.2 NA NA NA NA rs598747 0.81 0.81 0.803 0.821286 0.8638 0.8145 0.8977 0.6884 0.91 0.86 0.78 0.89 0.72 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.631703 NA NA NA NA NA 0.804 NA 4.4695333 1205 6 42210951 42210951 C G intronic TRERF1 NA NA NA intronic ENSG00000124496 NA NA NA NA NA 6p21.1 NA NA Name=18 NA rs2295276 0.25 0.25 0.256 0.248602 0.175 0.1429 0.1441 0.5726 0.0695 0.17 0.15 0.15 0.56 0.1835 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354364 NA NA 0.172093 0.467771 NA 0.297 NA 4.469407 1205 7 61822104 61822104 G A intergenic NONE,ZNF733P dist=NONE;dist=929566 NA NA ncRNA_exonic ENSG00000233918 NA NA NA Score=627;Name=lod=470 NA 7q11.21 NA NA NA NA rs12531338 NA NA 0.288 0.476238 0.5308 0.2937 0.6571 0.4592 0.5031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014157 NA NA NA NA NA NA NA 4.4692 1205 9 71722764 71722764 A T intergenic FXN,TJP2 dist=7670;dist=13416 NA NA downstream ENSG00000270236 NA NA NA Score=587;Name=lod=323 NA 9q21.11 NA NA NA NA rs117269462 0.01 0.01 0.006 0.00938498 0.0308 NA 0.0187 0.0015 0.001 0.02 NA 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.467671 1.467671 NA NA NA NA 0.007 NA 4.4692 1205 12 53295917 53295917 A G intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA Name=Pol2-4H8 NA NA rs2035875 0.54 0.54 0.533 0.566893 0.5308 0.6042 0.6167 0.3979 0.7587 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096284 NA NA NA NA NA 0.399 NA 4.4692 1205 19 18368988 18368988 G A intronic KIAA1683 NA NA NA intronic ENSG00000130518 NA NA NA NA NA 19p13.11 NA NA NA NA rs999815 0.2 0.2 0.193 0.167332 0.2704 0.2381 0.2017 0.0204 0.1626 0.29 0.23 0.19 0.04 0.2607 0.29 . . . . . . . . 1.000 P . . . . -0.987 T 0.000 T . -0.463 1.858 -1.18 -0.366 -0.600 6.279 -0.463252 NA 0.01 NA NA NA 0.196 NA 4.4689 1205 22 23982775 23982775 C T ncRNA_intronic GUSBP11 NA NA NA ncRNA_exonic ENSG00000234353 NA NA NA NA NA 22q11.23 NA NA NA NA rs12627958 0.22 0.22 0.185 0.213858 0.1978 0.3234 0.1744 0.1422 0.2423 0.22 0.32 0.17 0.13 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79709 NA NA NA NA NA 0.225 NA 4.4688666 1205 5 176011889 176011889 G A exonic CDHR2 NA synonymous SNV CDHR2:NM_001171976:exon19:c.G2607A:p.A869A,CDHR2:NM_017675:exon19:c.G2607A:p.A869A exonic ENSG00000074276 NA synonymous SNV ENSG00000074276:ENST00000506348:exon18:c.G2607A:p.A869A,ENSG00000074276:ENST00000261944:exon19:c.G2607A:p.A869A,ENSG00000074276:ENST00000510636:exon19:c.G2607A:p.A869A NA NA 5q35.2 NA NA NA NA rs4868660 0.24 0.24 0.229 0.204273 0.4145 0.0278 0.402 0.1021 0.1677 0.41 0.02 0.41 0.13 0.356 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.181054 NA NA 0.427326 0.160463 NA 0.246 NA 4.4688406 1205 1 50865316 50865316 C A intergenic ELAVL4,DMRTA2 dist=197776;dist=17907 NA NA ncRNA_intronic ENSG00000229316 NA NA NA Score=606;Name=lod=388 NA 1p32.3 NA NA NA NA rs2653872 0.6 0.6 0.585 0.577276 0.5318 0.8393 0.6599 0.3411 0.6145 0.55 0.83 0.6 0.38 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609305 NA NA NA NA NA 0.543 NA 4.4682 1205 1 50871167 50871167 C T intergenic ELAVL4,DMRTA2 dist=203627;dist=12056 NA NA ncRNA_exonic ENSG00000225671 NA NA NA Score=736;Name=lod=1301 NA 1p32.3 NA NA NA NA rs2484678 0.6 0.6 0.572 0.577276 0.5318 0.8393 0.6599 0.3411 0.6145 0.56 0.84 0.62 0.38 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723004 NA NA NA NA NA 0.543 NA 4.4682 1205 2 128699833 128699833 C T intronic SAP130 NA NA NA intronic ENSG00000136715 NA NA NA NA NA 2q14.3 NA Name=CEBPB NA NA rs1370229 0.41 0.41 0.363 0.331869 0.5318 0.5 0.4755 0.0318 0.2566 0.55 0.5 0.46 0.05 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463397 NA NA NA NA NA 0.275 NA 4.4682 1205 2 130253977 130253977 T G intergenic HS6ST1,LOC389033 dist=1177806;dist=426458 NA NA ncRNA_exonic ENSG00000233428 NA NA NA Score=553;Name=lod=236 NA 2q21.1 NA NA NA NA rs34242261 0.36 0.36 0.322 0.335264 0.5318 0.374 0.3732 0.0915 0.3957 0.52 0.35 0.38 0.11 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002711 NA NA NA NA NA 0.399 NA 4.4682 1205 12 53295079 53295079 G A intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs4403881 0.54 0.54 0.52 0.567492 0.5318 0.6042 0.6167 0.3986 0.7597 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.099626 NA NA NA NA NA NA NA 4.4682 1205 12 53295081 53295081 T G intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs4531558 0.54 0.54 0.509 0.567292 0.5318 0.6042 0.6167 0.3986 0.7587 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450745 NA NA NA NA NA NA NA 4.4682 1205 12 53295109 53295109 G C intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs4479068 0.54 0.54 0.522 0.567292 0.5318 0.6042 0.6167 0.3986 0.7587 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394842 NA NA NA NA NA 0.297 NA 4.4682 1205 13 19526947 19526947 T C intergenic ANKRD20A9P,LINC00442 dist=80838;dist=55452 NA NA ncRNA_exonic ENSG00000226057 NA NA NA Score=636;Name=lod=512 NA 13q12.11 NA NA NA NA rs13378194 0.33 0.33 0.308 0.338458 0.5318 0.1984 0.2896 0.1498 0.5736 0.54 0.18 0.35 0.17 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109206 NA NA NA NA NA 0.42 NA 4.4682 1205 16 5133606 5133606 G T intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 NA NA Name=2 NA rs8056523 0.53 0.53 0.507 0.558506 0.5318 0.631 0.4352 0.4781 0.7076 0.53 0.62 0.42 0.5 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.143232 NA NA NA NA NA 0.42 NA 4.4682 1205 6 24701941 24701941 A G UTR3 ACOT13 NM_018473:c.*98A>G,NM_001160094:c.*98A>G NA NA ncRNA_exonic ENSG00000272345 NA NA NA NA NA 6p22.3 NA NA NA NA rs62400786 0.02 0.02 0.011 0.0151757 0.0318 0.001 0.0202 0.003 0.0256 0.03 0.0017 0.03 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389182 NA NA NA NA NA 0.014 NA 4.4682 1205 22 50688348 50688348 A G exonic HDAC10 NA synonymous SNV HDAC10:NM_001159286:exon5:c.T435C:p.C145C,HDAC10:NM_032019:exon5:c.T435C:p.C145C exonic ENSG00000100429 NA synonymous SNV ENSG00000100429:ENST00000216271:exon5:c.T435C:p.C145C,ENSG00000100429:ENST00000349505:exon5:c.T435C:p.C145C,ENSG00000100429:ENST00000448072:exon5:c.T435C:p.C145C,ENSG00000100429:ENST00000454936:exon5:c.T435C:p.C145C NA NA 22q13.33 Score=882;Name=V$GR_Q6 NA NA NA rs1555048 0.82 0.82 0.826 0.871406 0.7078 0.8671 0.83 0.9871 0.9172 0.71 0.86 0.8 0.97 0.7847 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425918 NA NA 0.705978 0.940254 NA 0.855 NA 4.4681886 1205 19 56369215 56369215 C T exonic NLRP4 NA synonymous SNV NLRP4:NM_134444:exon3:c.C456T:p.I152I exonic ENSG00000160505 NA synonymous SNV ENSG00000160505:ENST00000587891:exon1:c.C231T:p.I77I,ENSG00000160505:ENST00000301295:exon3:c.C456T:p.I152I,ENSG00000160505:ENST00000346986:exon3:c.C456T:p.I152I,ENSG00000160505:ENST00000587464:exon3:c.C456T:p.I152I NA NA 19q13.43 NA NA NA NA rs395503 0.48 0.48 0.456 0.515974 0.3827 0.6657 0.464 0.447 0.6288 0.39 0.66 0.49 0.39 0.4462 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421616 NA NA 0.369767 0.432365 NA 0.435 NA 4.4679996 1205 17 44360760 44360760 C T intergenic KANSL1,LRRC37A dist=58020;dist=11737 NA NA intronic ENSG00000228696 NA NA NA Score=584;Name=lod=315 NA 17q21.31 NA NA NA NA rs111362882 0.09 0.09 0.057 0.0726837 0.1988 0.001 0.1412 0.0113 0.0511 0.17 0.0017 0.15 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532863 NA 0.42 NA NA NA 0.014 NA 4.4678667 1205 1 9324670 9324670 A G exonic H6PD NA synonymous SNV H6PD:NM_004285:exon5:c.A2118G:p.S706S exonic ENSG00000049239 NA synonymous SNV ENSG00000049239:ENST00000377403:exon5:c.A2118G:p.S706S,ENSG00000049239:ENST00000602477:exon5:c.A2151G:p.S717S NA NA 1p36.22 NA NA NA NA rs9434743 0.35 0.35 0.325 0.402157 0.4016 0.1538 0.428 0.5106 0.4939 0.43 0.13 0.43 0.45 0.4093 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466386 NA NA 0.387997 0.493872 NA 0.435 NA 4.4677696 1205 13 75814285 75814285 T C ncRNA_exonic CTAGE11P NA NA NA ncRNA_exonic ENSG00000214249 NA NA NA NA NA 13q22.2 NA NA NA NA rs2876702 0.1 0.1 0.083 0.0876597 0.1014 0.0675 0.0994 0.1029 0.0654 0.1 0.09 0.12 0.1 0.098 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125694 NA NA NA NA NA 0.051 NA 4.4672666 1205 3 59996969 59996969 C T intronic FHIT NA NA NA intronic ENSG00000189283 NA NA NA NA NA 3p14.2 Score=721;Name=V$PPARG_02 NA NA NA rs4679627 0.47 0.47 0.494 0.465655 0.5328 0.4554 0.3833 0.4486 0.4888 0.54 0.42 0.41 0.46 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.55009 3.55009 NA NA NA NA 0.42 NA 4.4672 1205 15 57848201 57848201 T G intergenic CGNL1,GCOM1 dist=5276;dist=35901 NA NA ncRNA_exonic ENSG00000240874 NA NA NA Score=709;Name=lod=1017 NA 15q21.3 NA NA NA NA rs7183861 0.45 0.45 0.425 0.430711 0.5328 0.4921 0.451 0.2451 0.499 0.54 0.5 0.46 0.23 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093868 NA NA NA NA NA 0.471 NA 4.4672 1205 4 153889265 153889265 A G intronic FHDC1 NA NA NA intronic ENSG00000137460 NA NA NA NA NA 4q31.3 NA NA Name=2 NA rs6535885 0.14 0.14 0.152 0.137979 0.1849 0.0853 0.1268 0.2073 0.0583 0.15 0.1 0.14 0.17 0.1581 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035784 NA NA 0.19 0.205175 NA 0.167 NA 4.467 1205 4 154709480 154709480 G A intronic SFRP2 NA NA NA intronic ENSG00000145423 NA NA NA Score=676;Name=lod=747 NA 4q31.3 NA NA Name=5 NA rs3810765 0.52 0.52 0.5 0.548722 0.4891 0.4157 0.6268 0.6059 0.6145 0.5 0.43 0.59 0.62 0.5274 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479157 NA NA 0.517093 0.579891 NA 0.565 NA 4.466407 1205 22 51017514 51017514 C G ncRNA_exonic CHKB-CPT1B NA NA NA UTR5;UTR3 ENSG00000205560;ENSG00000100288,ENSG00000254413 ENST00000434492:c.-2798G>C;ENST00000406938:c.*96G>C;ENST00000453634:c.*96G>C NA NA NA NA 22q13.33 NA NA NA NA rs17001634 0.06 0.06 0.048 0.0690895 0.0338 0.1022 0.098 0.0083 0.1329 0.04 0.13 0.05 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.521109 2.521109 NA NA NA NA 0.065 NA 4.4662 1205 8 62491943 62491943 G A intronic ASPH NA NA NA ncRNA_exonic ENSG00000254285 NA NA NA Score=634;Name=lod=501 NA 8q12.3 NA NA NA NA rs3802285 0.75 0.75 0.83 0.81889 0.8678 0.6974 0.8429 0.9319 0.7239 0.77 0.65 0.82 0.79 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.812327 1.812327 NA NA NA NA 0.87 NA 4.4655333 1205 12 7649653 7649653 T C exonic CD163 NA synonymous SNV CD163:NM_004244:exon5:c.A855G:p.G285G,CD163:NM_203416:exon5:c.A855G:p.G285G exonic ENSG00000177575 NA synonymous SNV ENSG00000177575:ENST00000359156:exon5:c.A855G:p.G285G,ENSG00000177575:ENST00000396620:exon5:c.A855G:p.G285G,ENSG00000177575:ENST00000432237:exon5:c.A855G:p.G285G,ENSG00000177575:ENST00000541972:exon5:c.A819G:p.G273G Score=483;Name=lod=122 NA 12p13.31 NA NA NA NA rs4883264 0.52 0.52 0.452 0.48123 0.7694 0.3839 0.7233 0.1241 0.5961 0.76 0.39 0.72 0.13 0.6705 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.190485 NA NA 0.761279 0.22424 NA 0.507 NA 4.4654876 1206 19 9020154 9020154 A G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon21:c.T37341C:p.S12447S exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon21:c.T37341C:p.S12447S NA NA 19p13.2 NA NA NA NA rs11882881 0.42 0.42 0.397 0.446486 0.3966 0.4623 0.5418 0.4138 0.4581 0.37 0.4 0.53 0.46 0.4251 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145471 NA NA 0.380179 0.38552 NA 0.312 NA 4.4647876 1206 5 79655782 79655782 A G intergenic CRSP8P,ZFYVE16 dist=7997;dist=48056 NA NA ncRNA_exonic ENSG00000220157 NA NA NA Score=615;Name=lod=421 NA 5q14.1 NA NA NA NA rs11948979 0.74 0.74 0.752 0.770767 0.5358 0.9405 0.6167 0.9145 0.7526 0.54 0.95 0.61 0.9 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663191 NA NA NA NA NA 0.652 NA 4.4642 1206 9 21695893 21695893 A G intergenic MIR31HG,MTAP dist=136196;dist=106742 NA NA ncRNA_exonic ENSG00000229835 NA NA NA Score=676;Name=lod=742 NA 9p21.3 NA NA NA NA rs12380505 0.62 0.62 0.624 0.616613 0.5358 0.6915 0.4366 0.8585 0.4233 0.53 0.66 0.43 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123778 NA NA NA NA NA 0.681 NA 4.4642 1206 16 16291420 16291420 G A intronic ABCC6 NA NA NA intronic ENSG00000091262 NA NA NA NA NA 16p13.11 NA NA Name=2 NA rs12929319 0.44 0.44 0.384 0.459465 0.5358 0.5367 0.6138 0.0946 0.6851 0.55 0.49 0.58 0.09 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02538 NA NA NA NA NA 0.37 NA 4.4642 1206 19 14739549 14739549 C A intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA Score=676;Name=lod=745 NA 19p13.12 NA NA NA NA rs10402165 0.45 0.45 0.444 0.406749 0.5358 0.1885 0.4654 0.5287 0.2924 0.55 0.2 0.51 0.54 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785654 NA NA NA NA NA 0.464 NA 4.4642 1206 8 135614705 135614705 A G exonic ZFAT NA synonymous SNV ZFAT:NM_001174157:exon5:c.T1071C:p.R357R,ZFAT:NM_001167583:exon6:c.T1221C:p.R407R,ZFAT:NM_001174158:exon6:c.T1221C:p.R407R,ZFAT:NM_020863:exon6:c.T1257C:p.R419R,ZFAT:NM_001029939:exon7:c.T1221C:p.R407R exonic ENSG00000066827 NA synonymous SNV ENSG00000066827:ENST00000523399:exon5:c.T1071C:p.R357R,ENSG00000066827:ENST00000377838:exon6:c.T1257C:p.R419R,ENSG00000066827:ENST00000429442:exon6:c.T1221C:p.R407R,ENSG00000066827:ENST00000520214:exon6:c.T1221C:p.R407R,ENSG00000066827:ENST00000520356:exon6:c.T1221C:p.R407R,ENSG00000066827:ENST00000523243:exon6:c.T1257C:p.R419R,ENSG00000066827:ENST00000520727:exon7:c.T1221C:p.R407R NA NA 8q24.22 Score=795;Name=V$PAX5_02 NA NA NA rs3739423 0.8 0.8 0.776 0.796326 0.7177 0.9028 0.8213 0.7814 0.7699 0.73 0.92 0.79 0.78 0.7616 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102054 NA NA 0.723235 0.792352 ID=COSM1455037,COSM1455036;OCCURENCE=1(large_intestine) 0.819 NA 4.4641316 1206 11 48285856 48285856 C T exonic OR4X1 NA synonymous SNV OR4X1:NM_001004726:exon1:c.C444T:p.G148G exonic ENSG00000176567 NA synonymous SNV ENSG00000176567:ENST00000320048:exon1:c.C444T:p.G148G NA NA 11p11.2 Score=736;Name=V$PAX4_04 NA NA NA rs10838850 0.66 0.66 0.638 0.603834 0.7445 0.5476 0.7406 0.5446 0.5 0.75 0.6 0.74 0.53 0.7035 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540679 NA NA 0.754537 0.566106 NA 0.616 NA 4.4641296 1206 9 130075672 130075672 C T intronic GARNL3 NA NA NA intronic ENSG00000136895 NA NA NA NA NA 9q33.3 NA Name=NF-YB Name=2 NA rs2779714 0.42 0.42 0.378 0.361621 0.5497 0.2103 0.6455 0.2171 0.318 0.56 0.25 0.62 0.24 0.4676 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.013139 2.013139 NA 0.518837 0.260781 NA 0.399 NA 4.463863 1206 1 231254003 231254003 G A intergenic FAM89A,TRIM67 dist=78008;dist=44671 NA NA ncRNA_exonic ENSG00000229595 NA NA NA Score=527;Name=lod=185 NA 1q42.2 NA NA NA NA rs10864669 0.58 0.58 0.566 0.585264 0.5368 0.6667 0.5432 0.5121 0.68 0.52 0.72 0.54 0.52 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109788 NA NA NA NA NA 0.58 NA 4.4632 1206 7 34791335 34791335 G A ncRNA_intronic NPSR1-AS1 NA NA NA ncRNA_exonic ENSG00000230356 NA NA NA NA NA 7p14.3 NA NA NA NA rs28716279 0.18 0.18 0.167 0.151358 0.2038 0.3274 0.1484 0.0166 0.1002 0.21 0.33 0.14 0.01 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163725 NA NA NA NA NA 0.145 NA 4.4628666 1206 3 116745838 116745838 A G intergenic LSAMP-AS3,IGSF11 dist=309951;dist=1873641 NA NA ncRNA_exonic ENSG00000243014 NA NA NA Score=694;Name=lod=882 NA 3q13.31 NA NA NA NA rs10154829 0.57 0.57 0.524 0.53115 0.5378 0.6657 0.4669 0.5408 0.4182 0.55 0.67 0.49 0.54 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314263 NA NA NA NA NA 0.486 NA 4.4622 1206 8 95986972 95986972 G C intergenic TP53INP1,NDUFAF6 dist=25357;dist=50242 NA NA ncRNA_exonic ENSG00000253528 NA NA NA Score=689;Name=lod=842 NA 8q22.1 NA NA NA NA rs10099059 0.53 0.53 0.491 0.513578 0.5378 0.7302 0.5548 0.2579 0.5818 0.55 0.69 0.59 0.25 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450579 NA NA NA NA NA 0.442 NA 4.4622 1206 8 95987008 95987008 C T intergenic TP53INP1,NDUFAF6 dist=25393;dist=50206 NA NA ncRNA_exonic ENSG00000253528 NA NA NA Score=689;Name=lod=842 NA 8q22.1 NA NA NA NA rs10099941 0.53 0.53 0.491 0.513379 0.5378 0.7302 0.5548 0.2572 0.5818 0.55 0.69 0.59 0.25 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370214 NA NA NA NA NA 0.449 NA 4.4622 1206 10 120632048 120632048 A G intergenic CACUL1,NANOS1 dist=117290;dist=157180 NA NA ncRNA_exonic ENSG00000236058 NA NA NA Score=781;Name=lod=1981 NA 10q26.11 NA NA NA NA rs9787461 0.55 0.55 0.516 0.530551 0.5378 0.5833 0.5836 0.4463 0.545 0.54 0.62 0.59 0.46 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15637 NA NA NA NA NA 0.536 NA 4.4622 1206 17 28408070 28408070 C T intronic EFCAB5 NA NA NA intronic ENSG00000176927 NA NA NA Score=243;Name=lod=13 NA 17q11.2 NA NA NA NA rs11080115 0.45 0.45 0.447 0.45647 0.5378 0.2867 0.4323 0.559 0.4264 0.52 0.29 0.45 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.878036 1.878036 NA NA NA NA 0.341 NA 4.4622 1206 3 10268017 10268017 C T intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA Name=Pol2 NA NA rs779905 0.33 0.33 0.318 0.365016 0.1481 0.622 0.2738 0.3381 0.4243 0.14 0.6 0.25 0.36 0.2532 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250096 NA NA 0.136723 0.305039 NA 0.246 NA 4.461977 1206 13 32527529 32527529 A G ncRNA_intronic EEF1DP3 NA NA NA ncRNA_exonic ENSG00000229715 NA NA NA NA NA 13q13.1 NA NA NA NA rs916756 0.38 0.38 0.396 0.411342 0.2048 0.5427 0.1614 0.6286 0.3722 0.22 0.51 0.16 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467944 NA NA NA NA NA 0.341 NA 4.4618666 1206 1 207262980 207262980 T G intronic C4BPB NA NA NA intronic ENSG00000123843 NA NA NA NA NA 1q32.2 NA Name=HNF4G_(SC-6558),HEY1,TCF12 Name=12 NA rs12711513 0.62 0.62 0.592 0.61242 0.4831 0.8373 0.6398 0.5189 0.6207 0.49 0.88 0.6 0.52 0.5639 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751019 NA NA 0.491395 0.517703 NA 0.543 NA 4.461605 1206 2 171070810 171070810 G T intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA Name=YY1_(C-20) NA NA rs67994603 0.55 0.55 0.542 0.546526 0.5388 0.5466 0.6297 0.5106 0.544 0.54 0.54 0.56 0.55 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314905 NA NA NA NA NA 0.645 NA 4.4612 1206 3 22423998 22423998 C T intergenic ZNF385D,UBE2E2 dist=631182;dist=820786 NA NA ncRNA_exonic ENSG00000132967 NA NA NA Score=769;Name=lod=1787 NA 3p24.3 NA NA NA NA rs13070522 0.47 0.47 0.404 0.472244 0.5388 0.4296 0.6354 0.2799 0.592 0.55 0.47 0.59 0.25 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.657872 1.657872 NA NA NA NA 0.406 NA 4.4612 1206 10 45430462 45430462 C T exonic TMEM72 NA synonymous SNV TMEM72:NM_001123376:exon5:c.C708T:p.A236A exonic ENSG00000187783 NA synonymous SNV ENSG00000187783:ENST00000544540:exon4:c.C354T:p.A118A,ENSG00000187783:ENST00000389583:exon5:c.C708T:p.A236A NA NA 10q11.21 NA NA NA NA rs17417442 0.36 0.36 0.335 0.333466 0.3986 0.3274 0.4438 0.3086 0.228 0.39 0.29 0.43 0.32 0.3861 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06438 NA NA 0.421413 0.331633 NA 0.362 NA 4.4605536 1206 7 42958847 42958847 G A intronic PSMA2 NA NA NA ncRNA_exonic ENSG00000234983 NA NA NA Score=622;Name=lod=451 NA 7p14.1 NA NA NA NA rs652130 0.86 0.86 0.86 0.850639 0.8728 0.9097 0.7666 0.7814 0.9202 0.88 0.91 0.82 0.79 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469106 NA NA NA NA NA 0.891 NA 4.4605333 1206 7 42959220 42959220 T C intronic PSMA2 NA NA NA ncRNA_exonic ENSG00000234983 NA NA NA Score=665;Name=lod=673 NA 7p14.1 NA NA NA NA rs653881 0.86 0.86 0.843 0.851837 0.8728 0.9097 0.768 0.7852 0.9202 0.88 0.91 0.82 0.79 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142864 NA NA NA NA NA 0.891 NA 4.4605333 1206 20 51870849 51870849 T C exonic TSHZ2 NA synonymous SNV TSHZ2:NM_001193421:exon2:c.T843C:p.F281F,TSHZ2:NM_173485:exon2:c.T852C:p.F284F exonic ENSG00000182463 NA synonymous SNV ENSG00000182463:ENST00000329613:exon2:c.T843C:p.F281F,ENSG00000182463:ENST00000371497:exon2:c.T852C:p.F284F,ENSG00000182463:ENST00000603338:exon2:c.T843C:p.F281F Score=716;Name=lod=1086 NA 20q13.2 NA NA NA NA rs739870 0.8 0.8 0.804 0.834465 0.7237 0.7837 0.8256 0.975 0.817 0.72 0.79 0.8 0.95 0.7674 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672475 NA NA 0.715349 0.935315 NA 0.891 NA 4.4602176 1206 12 70088132 70088132 C T intronic BEST3 NA NA NA intronic ENSG00000127325 NA NA NA Score=722;Name=lod=1150 NA 12q15 NA NA NA NA rs1158868 0.2 0.2 0.218 0.197883 0.1869 0.0139 0.1614 0.4788 0.045 0.19 0.02 0.19 0.44 0.1699 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.733052 3.733052 NA 0.183949 0.380268 ID=COSN164304;OCCURENCE=1(NS) 0.203 NA 4.459251 1206 22 32756899 32756899 T C ncRNA_UTR3 RFPL3 NA NA NA UTR3 ENSG00000128276 ENST00000397468:c.*80T>C,ENST00000249007:c.*80T>C,ENST00000382088:c.*80T>C NA NA NA NA 22q12.3 NA NA NA NA rs5749409 0.16 0.16 0.141 0.145767 0.0408 0.4583 0.0908 0.0303 0.1268 0.04 0.45 0.1 0.02 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899776 NA NA NA NA NA 0.087 NA 4.4592 1206 22 45937149 45937149 C T exonic FBLN1 NA synonymous SNV FBLN1:NM_001996:exon9:c.C963T:p.I321I,FBLN1:NM_006485:exon9:c.C963T:p.I321I,FBLN1:NM_006486:exon9:c.C963T:p.I321I,FBLN1:NM_006487:exon9:c.C963T:p.I321I exonic ENSG00000077942 NA synonymous SNV ENSG00000077942:ENST00000262722:exon9:c.C963T:p.I321I,ENSG00000077942:ENST00000327858:exon9:c.C963T:p.I321I,ENSG00000077942:ENST00000340923:exon9:c.C963T:p.I321I,ENSG00000077942:ENST00000348697:exon9:c.C963T:p.I321I,ENSG00000077942:ENST00000442170:exon9:c.C963T:p.I321I,ENSG00000077942:ENST00000402984:exon10:c.C1077T:p.I359I NA NA 22q13.31 NA NA NA NA rs9682 0.29 0.29 0.322 0.262181 0.4294 0.1825 0.2637 0.2171 0.2321 0.43 0.17 0.3 0.21 0.3594 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82046 NA NA 0.418721 0.247617 NA 0.355 NA 4.4591456 1206 8 20792070 20792070 G C intergenic LZTS1-AS1,LOC286114 dist=644101;dist=39427 NA NA ncRNA_exonic ENSG00000253866 NA NA NA Score=497;Name=lod=140 NA 8p21.3 NA NA NA NA rs11776249 0.53 0.53 0.557 0.579673 0.5417 0.2371 0.5951 0.8306 0.6217 0.55 0.22 0.57 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244149 NA NA NA NA NA 0.601 NA 4.4583 1206 1 7907971 7907971 C A intronic UTS2 NA NA NA intronic ENSG00000049247 NA NA NA NA NA 1p36.23 NA NA Name=78 NA rs707473 0.26 0.26 0.237 0.253994 0.1759 0.372 0.1499 0.2708 0.2638 0.17 0.42 0.18 0.29 0.2168 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815642 NA NA 0.149186 0.230822 ID=COSN162921;OCCURENCE=1(breast) 0.275 NA 4.458114 1206 10 73570334 73570334 G A intronic CDH23 NA NA NA intronic ENSG00000107736 NA NA NA NA NA 10q22.1 NA NA NA NA rs11818398 0.16 0.16 0.142 0.148562 0.1938 0.2431 0.1441 0.059 0.1288 0.19 0.22 0.12 0.08 0.1686 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611635 NA NA 0.179891 0.085533 NA 0.152 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039304.1|RCV000124209.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.457709 1206 16 72108474 72108474 G A intronic HPR NA NA NA intronic ENSG00000140830,ENSG00000261701 NA NA NA NA NA 16q22.2 NA Name=JunD NA NA rs2070939 NA NA 0.539 0.592652 0.5427 0.381 0.4164 0.8313 0.6646 NA NA NA NA NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871773 NA NA NA NA NA 0.623 NA 4.4573 1206 7 76255061 76255061 T C ncRNA_intronic LOC100133091 NA NA NA ncRNA_intronic ENSG00000205485 NA NA NA NA NA 7q11.23 NA NA NA NA rs41278779 0.12 0.12 0.088 0.198482 0.2097 0.2272 0.2637 0.0794 0.272 0.13 0.13 0.19 0.04 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759367 NA NA NA NA NA 0.109 NA 4.4569666 1206 4 104061266 104061266 G A intronic CENPE NA NA NA intronic ENSG00000138778 NA NA NA NA NA 4q24 NA NA Name=6 NA rs7686105 0.14 0.14 0.131 0.169928 0.1779 0.1548 0.1916 0.0461 0.3292 0.17 0.14 0.19 0.05 0.1875 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.963976 1.963976 NA 0.178397 0.063383 NA 0.239 NA 4.456203 1206 1 94473864 94473864 C T intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs1800739 0.2 0.2 0.181 0.183307 0.1829 0.121 0.1801 0.2837 0.1145 0.17 0.16 0.19 0.27 0.1766 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126488 NA NA 0.184535 0.25488 ID=COSN163160;OCCURENCE=1(breast) 0.174 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085763.2;CLNDSDB=.;CLNDSDBID=. 4.455965 1206 19 36605794 36605794 C T UTR5 POLR2I NM_006233:c.-36G>A NA NA UTR5 ENSG00000105258 ENST00000221859:c.-36G>A,ENST00000592962:c.-36G>A,ENST00000586439:c.-36G>A NA NA NA NA 19q13.12 NA Name=YY1_(C-20),USF1_(SC-8983),E2F6,NRSF,SP1,Mxi1_(bHLH),Pol2,Pol2(phosphoS2),E2F4,HMGN3,USF2,E2F6_(H-50),ETS1,TAF1,Znf143_(16618-1-AP),GTF2F1_(RAP-74),BHLHE40,p300,GR,Max,ELF1_(SC-631),Sin3Ak-20,HA-E2F1,Pol2-4H8,YY1,TBP,IRF1,TCF12,USF-1,Nrf1,PAX5-C20,SIX5,c-Myc,CCNT2,HEY1,BCL3 Name=133 NA rs2231568 0.72 0.72 0.725 0.717452 0.6223 0.7907 0.7349 0.7821 0.6401 0.63 0.8 0.69 0.8 0.65 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.731508 NA NA 0.605098 0.755232 NA 0.572 NA 4.4559354 1206 3 49758764 49758764 A G UTR3 RNF123 NM_022064:c.*26A>G NA NA UTR5;UTR3 ENSG00000176020;ENSG00000164068,ENSG00000173540 ENST00000535833:c.-1866T>C;ENST00000327697:c.*26A>G,ENST00000457726:c.*2045A>G,ENST00000433785:c.*26A>G;ENST00000480687:c.*421T>C,ENST00000308375:c.*421T>C NA NA NA NA 3p21.31 NA Name=Pol2(phosphoS2) NA NA rs4768 0.22 0.22 0.24 0.240016 0.3091 0.1538 0.2032 0.2133 0.32 0.3 0.17 0.19 0.17 0.2681 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790775 NA NA 0.300698 0.211303 NA 0.181 NA 4.4554354 1206 3 49336232 49336232 T C intronic USP4 NA NA NA intronic ENSG00000114316 NA NA NA NA NA 3p21.31 NA Name=c-Jun,HDAC2_(SC-6296),FOXA1_(C-20),FOSL2,JunD,FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs11720964 0.62 0.62 0.575 0.621006 0.5447 0.9325 0.6427 0.3162 0.7751 0.54 0.92 0.63 0.36 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096037 NA NA NA NA NA 0.5 NA 4.4553 1206 6 42924193 42924193 C T intergenic CNPY3,GNMT dist=17185;dist=4307 NA NA ncRNA_exonic ENSG00000181524 NA NA NA Score=720;Name=lod=1123 NA 6p21.1 NA NA NA NA rs13215983 0.48 0.48 0.487 0.494209 0.5447 0.1696 0.428 0.7632 0.4601 0.55 0.19 0.43 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.871717 NA NA NA NA NA 0.587 NA 4.4553 1207 6 144872051 144872051 C A intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA Name=CTCF NA NA rs1005974 0.23 0.23 0.217 0.253594 0.16 0.1964 0.2882 0.3631 0.2362 0.16 0.2 0.25 0.37 0.2095 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024739 NA NA 0.175506 0.348842 NA 0.355 NA 4.454994 1207 10 105805497 105805497 C T intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA Name=CTCF_(SC-5916),CTCF,Rad21,SMC3_(ab9263) Name=119 NA rs813944 0.48 0.48 0.44 0.436102 0.5209 0.6528 0.438 0.1823 0.4673 0.52 0.67 0.47 0.19 0.4945 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414377 NA NA 0.53 0.241943 NA 0.464 NA 4.4546 1207 22 31663842 31663842 C G exonic LIMK2 NA synonymous SNV LIMK2:NM_001031801:exon9:c.C1146G:p.L382L,LIMK2:NM_016733:exon9:c.C1146G:p.L382L,LIMK2:NM_005569:exon10:c.C1209G:p.L403L exonic ENSG00000182541 NA synonymous SNV ENSG00000182541:ENST00000444929:exon5:c.C471G:p.L157L,ENSG00000182541:ENST00000333611:exon9:c.C1146G:p.L382L,ENSG00000182541:ENST00000340552:exon9:c.C1146G:p.L382L,ENSG00000182541:ENST00000406516:exon9:c.C975G:p.L325L,ENSG00000182541:ENST00000331728:exon10:c.C1209G:p.L403L Score=537;Name=lod=203 NA 22q12.2 NA NA NA NA rs2228619 0.82 0.82 0.845 0.845048 0.7266 0.876 0.7478 0.9856 0.8139 0.71 0.87 0.76 0.98 0.7607 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956027 NA NA 0.724767 0.945302 NA 0.833 NA 4.4545996 1207 2 60962833 60962833 G A intergenic BCL11A,PAPOLG dist=182200;dist=20532 NA NA ncRNA_exonic ENSG00000271707 NA NA NA NA NA 2p16.1 NA Name=CtBP2,Egr-1 NA NA rs34405203 0.39 0.39 0.381 0.357029 0.5457 0.1448 0.3977 0.3956 0.3006 0.53 0.15 0.47 0.4 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215559 NA NA NA NA NA 0.471 NA 4.4543 1207 6 150364128 150364128 G A intergenic RAET1L,ULBP3 dist=17460;dist=21615 NA NA ncRNA_exonic ENSG00000213091 NA NA NA Score=786;Name=lod=2095 NA 6q25.1 NA NA NA NA rs3903885 0.41 0.41 0.413 0.393171 0.5457 0.3294 0.3746 0.3169 0.4182 0.55 0.3 0.43 0.32 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07004 NA NA NA NA NA 0.42 NA 4.4543 1207 2 131051475 131051475 T G intergenic TUBA3E,CCDC115 dist=95441;dist=44341 NA NA ncRNA_exonic ENSG00000226915 NA NA NA Score=682;Name=lod=785 NA 2q21.1 NA NA NA NA rs938867 0.56 0.56 0.513 0.564297 0.5467 0.4524 0.6614 0.652 0.5102 0.52 0.47 0.65 0.64 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429335 NA NA NA NA NA 0.616 NA 4.4533 1207 3 97916387 97916387 T C intergenic OR5H15,OR5H6 dist=27902;dist=66742 NA NA ncRNA_exonic ENSG00000249321 NA NA NA Score=309;Name=lod=24 NA 3q11.2 NA NA NA NA rs6768197 0.58 0.58 0.57 0.591054 0.5467 0.494 0.5029 0.7693 0.5583 0.55 0.56 0.48 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441036 NA NA NA NA NA 0.486 NA 4.4533 1207 17 46977125 46977125 G A intergenic ATP5G1,UBE2Z dist=3893;dist=8606 NA NA ncRNA_intronic ENSG00000248278 NA NA NA NA NA 17q21.32 NA NA Name=5 NA rs2112617 0.47 0.47 0.455 0.421725 0.5467 0.6845 0.451 0.0635 0.4857 0.57 0.71 0.44 0.07 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653194 NA NA NA NA NA 0.355 NA 4.4533 1207 19 45868006 45868006 A T intronic ERCC2 NA NA NA intronic ENSG00000104884 NA NA NA NA NA 19q13.32 NA Name=AP-2gamma NA NA rs238405 0.62 0.62 0.654 0.634984 0.5467 0.4901 0.4841 0.9342 0.5777 0.56 0.52 0.49 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313394 NA NA NA NA NA 0.739 NA 4.4533 1207 22 18111431 18111431 T C UTR5 ATP6V1E1 NM_001039367:c.-30A>G,NM_001039366:c.-30A>G,NM_001696:c.-30A>G NA NA UTR5 ENSG00000131100 ENST00000253413:c.-30A>G,ENST00000399796:c.-30A>G,ENST00000399798:c.-30A>G,ENST00000413576:c.-9197A>G NA NA NA NA 22q11.21 NA Name=USF1_(SC-8983),Pol2(phosphoS2),Pol2,PU.1,SP1,GABP,TAF1,ELF1_(SC-631),Max,Pol2-4H8,HA-E2F1,Sin3Ak-20,ELK4,Pol2(b),IRF1,TBP,USF-1,Nrf1,HEY1 NA NA rs7751 0.33 0.33 0.343 0.342851 0.2565 0.2123 0.2781 0.6868 0.1472 0.26 0.21 0.28 0.64 0.3085 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.573495 1.573495 NA 0.315349 0.635497 NA 0.457 NA 4.4529844 1207 9 136522187 136522187 A G intronic DBH NA NA NA ncRNA_intronic ENSG00000225756 NA NA NA NA NA 9q34.2 NA NA Name=4 NA rs1611131 0.31 0.31 0.255 0.240415 0.326 0.4028 0.3329 0.1067 0.1002 0.34 0.43 0.33 0.12 0.2734 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687695 NA NA 0.281628 0.137994 NA 0.217 NA 4.4523053 1207 3 145542203 145542203 G A intergenic C3orf58,PLOD2 dist=1830993;dist=245025 NA NA ncRNA_exonic ENSG00000239797 NA NA NA Score=738;Name=lod=1328 NA 3q24 NA NA NA NA rs9877492 0.51 0.51 0.389 0.480631 0.5477 0.7044 0.5663 0.2489 0.4335 0.53 0.69 0.55 0.22 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.641247 NA NA NA NA NA NA NA 4.4523 1207 3 145542204 145542204 C T intergenic C3orf58,PLOD2 dist=1830994;dist=245024 NA NA ncRNA_exonic ENSG00000239797 NA NA NA Score=738;Name=lod=1328 NA 3q24 NA NA NA NA rs9877227 0.51 0.51 0.385 0.480631 0.5477 0.7044 0.5663 0.2489 0.4335 0.53 0.69 0.55 0.22 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.346904 NA NA NA NA NA NA NA 4.4523 1207 17 4540277 4540277 C T intronic ALOX15 NA NA NA intronic ENSG00000161905 NA NA NA NA NA 17p13.2 NA NA Name=4 NA rs2619118 0.43 0.43 0.406 0.424121 0.5477 0.4563 0.4222 0.2103 0.5542 0.55 0.48 0.44 0.19 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391951 NA NA NA NA NA 0.507 NA 4.4523 1207 18 8413804 8413804 G A intergenic PTPRM,RAB12 dist=6945;dist=195639 NA NA ncRNA_exonic ENSG00000266613 NA NA NA Score=813;Name=lod=2697 NA 18p11.23 NA NA NA NA rs640709 0.47 0.47 0.45 0.430511 0.5477 0.4435 0.4524 0.3442 0.3978 0.55 0.44 0.48 0.37 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.15393 NA NA NA NA NA 0.551 NA 4.4523 1207 15 85402431 85402431 G A intronic ALPK3 NA NA NA intronic ENSG00000136383 NA NA NA NA NA 15q25.3 NA Name=Pol2,GATA3_(SC-268),p300,HA-E2F1 NA NA rs2289141 0.25 0.25 0.236 0.291933 0.167 0.3829 0.268 0.2723 0.3701 0.16 0.36 0.26 0.27 0.2243 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.556745 1.556745 NA 0.156548 0.262369 NA 0.283 NA 4.452152 1207 6 71010101 71010101 A G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 Score=819;Name=V$IRF1_01 NA NA NA rs12210123 0.15 0.15 0.15 0.153554 0.1819 0.002 0.1239 0.2738 0.1391 0.19 NA 0.14 0.26 0.1744 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.569928 3.569928 NA 0.191628 0.276214 NA 0.268 NA 4.452072 1207 7 43548857 43548857 T C ncRNA_exonic LOC100506895 NA NA NA ncRNA_exonic ENSG00000231638 NA NA NA NA NA 7p13 NA NA NA NA rs9639877 0.18 0.18 0.185 0.183506 0.2147 0.0863 0.1657 0.1649 0.2894 0.23 0.1 0.19 0.19 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417826 NA NA NA NA NA 0.203 NA 4.4519666 1207 14 107095544 107095544 G A intergenic LINC00221,NONE dist=144015;dist=NONE NA NA exonic ENSG00000211970 NA synonymous SNV ENSG00000211970:ENST00000390630:exon1:c.C18T:p.F6F NA NA 14q32.33 NA NA NA NA rs182127138 0.04 0.04 NA NA NA NA NA NA NA 0.02 0.02 0.04 0.09 0.0482 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16941 NA NA NA NA NA NA NA 4.4518 1207 16 857673 857673 G A intronic PRR25 NA NA NA intronic ENSG00000167945 NA NA NA NA NA 16p13.3 NA Name=ELF1_(SC-631),Pol2,Pol2(phosphoS2),TAF1,GABP,HEY1,HA-E2F1,Sin3Ak-20,Pol2-4H8 NA NA rs58297819 0.14 0.14 0.141 0.138179 0.1839 0.1667 0.1455 0.0424 0.1861 0.18 0.17 0.15 0.05 0.193 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.219499 NA NA 0.171419 0.064038 NA 0.203 NA 4.451681 1207 9 30773962 30773962 G T intergenic LOC401497,ACO1 dist=365510;dist=1610639 NA NA ncRNA_exonic ENSG00000235626 NA NA NA Score=521;Name=lod=174 NA 9p21.1 NA NA NA NA rs4127049 0.45 0.45 0.448 0.455871 0.5487 0.3274 0.549 0.4024 0.499 0.53 0.35 0.53 0.37 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845489 NA NA NA NA NA NA NA 4.4513 1207 9 30773963 30773963 G T intergenic LOC401497,ACO1 dist=365511;dist=1610638 NA NA ncRNA_exonic ENSG00000235626 NA NA NA Score=521;Name=lod=174 NA 9p21.1 NA NA NA NA rs4127048 0.44 0.44 0.441 0.455871 0.5487 0.3274 0.549 0.4024 0.499 0.52 0.35 0.53 0.37 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272751 NA NA NA NA NA NA NA 4.4513 1207 9 139089679 139089679 G A intronic LHX3 NA NA NA intronic ENSG00000107187 NA NA NA NA Name=Thyroid hormone levels 9q34.3 NA NA NA NA rs7860634 0.46 0.46 0.482 0.47504 0.5487 0.3304 0.4063 0.5908 0.4407 0.53 0.34 0.41 0.51 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623204 NA NA NA NA NA 0.377 NA 4.4513 1207 16 33391415 33391415 A C intergenic LOC390705,RNU6-76P dist=92713;dist=72092 NA NA ncRNA_intronic ENSG00000259882 NA NA NA Score=415;Name=lod=65 NA 16p11.2 NA NA NA NA rs357994 NA NA NA 0.551118 0.5487 0.5556 0.6383 0.5227 0.5256 NA NA NA NA NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414481 NA NA NA NA ID=COSN165184;OCCURENCE=1(breast) 0.558 NA 4.4513 1207 18 7117623 7117623 G C intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.23 Score=786;Name=V$AHR_01 NA Name=23 NA rs334406 0.48 0.48 0.429 0.516374 0.5229 0.6002 0.647 0.2776 0.6534 0.52 0.55 0.64 0.24 0.5571 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018304 NA NA 0.468885 0.234575 NA NA NA 4.451115 1207 3 97941080 97941080 C T intergenic OR5H15,OR5H6 dist=52595;dist=42049 NA NA ncRNA_exonic ENSG00000248507 NA NA NA Score=389;Name=lod=51 NA 3q11.2 NA NA NA NA rs1846078 0.62 0.62 0.658 0.623602 0.5497 0.494 0.5187 0.8812 0.5593 0.55 0.56 0.49 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236363 NA NA NA NA NA 0.565 NA 4.4503 1207 4 154579760 154579760 C T intergenic KIAA0922,TLR2 dist=21898;dist=25681 NA NA ncRNA_exonic ENSG00000248208 NA NA NA Score=686;Name=lod=818 NA 4q31.3 NA NA NA NA rs6819216 0.49 0.49 0.428 0.484824 0.5497 0.5575 0.6988 0.1324 0.6677 0.56 0.59 0.65 0.14 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690831 NA NA NA NA NA 0.449 NA 4.4503 1207 17 18541855 18541855 C G intronic TBC1D28 NA NA NA intronic ENSG00000189375 NA NA NA NA NA 17p11.2 NA NA NA NA NA NA NA NA 0.709465 0.5497 0.9583 0.6455 0.7103 0.6616 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.894033 NA NA NA NA NA NA NA 4.4503 1207 1 202920300 202920300 A C intronic ADIPOR1 NA NA NA intronic ENSG00000159346 NA NA NA Score=329;Name=lod=29 NA 1q32.1 NA NA NA NA rs2275737 0.65 0.65 0.622 0.636182 0.5507 0.8274 0.67 0.5598 0.6063 0.55 0.85 0.64 0.56 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.436908 1.436908 NA NA NA NA 0.609 NA 4.4493 1207 1 202920304 202920304 T C intronic ADIPOR1 NA NA NA intronic ENSG00000159346 NA NA NA Score=329;Name=lod=29 NA 1q32.1 NA NA NA NA rs2275738 0.65 0.65 0.638 0.642572 0.5507 0.8274 0.6729 0.5825 0.6063 0.55 0.85 0.64 0.57 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.4876 2.4876 NA NA NA NA 0.609 NA 4.4493 1207 3 97958054 97958054 T C intergenic OR5H15,OR5H6 dist=69569;dist=25075 NA NA ncRNA_exonic ENSG00000187900 NA NA NA Score=415;Name=lod=65 NA 3q11.2 NA NA NA NA rs9851509 0.55 0.55 0.586 0.59385 0.5507 0.495 0.5101 0.7716 0.5593 0.51 0.53 0.45 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234931 NA 1 NA NA NA 0.514 NA 4.4493 1207 19 36989005 36989005 C T intergenic LOC728752,ZNF260 dist=7063;dist=12584 NA NA ncRNA_exonic ENSG00000267091 NA NA NA Score=601;Name=lod=370 NA 19q13.12 NA NA NA NA rs2945970 0.45 0.45 0.473 0.459265 0.5507 0.255 0.3804 0.5234 0.545 0.54 0.25 0.43 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132702 NA NA NA NA NA 0.5 NA 4.4493 1207 17 4686414 4686414 A C exonic TM4SF5 NA synonymous SNV TM4SF5:NM_003963:exon5:c.A585C:p.T195T exonic ENSG00000142484 NA synonymous SNV ENSG00000142484:ENST00000270560:exon5:c.A585C:p.T195T NA NA 17p13.2 NA NA NA NA rs3851 0.35 0.35 0.313 0.409744 0.3986 0.4504 0.2882 0.2708 0.6534 0.41 0.39 0.33 0.25 0.4212 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001916 NA NA 0.397907 0.309351 NA 0.348 NA 4.4489596 1207 3 179463076 179463076 A G intronic USP13 NA NA NA intronic ENSG00000058056 NA NA NA NA NA 3q26.33 NA NA Name=3 NA rs58527921 0.65 0.65 0.684 0.647364 0.5517 0.7093 0.5778 0.7799 0.5521 0.56 0.72 0.59 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534207 NA NA NA NA NA 0.623 NA 4.4483 1207 14 107095535 107095535 G C intergenic LINC00221,NONE dist=144006;dist=NONE NA NA exonic ENSG00000211970 NA synonymous SNV ENSG00000211970:ENST00000390630:exon1:c.C27G:p.L9L NA NA 14q32.33 NA NA NA NA rs201905956 NA NA 0.022 NA NA NA NA NA NA NA NA NA NA 0.0517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704898 NA NA NA NA NA NA NA 4.4483 1207 1 151006539 151006539 C A exonic PRUNE NA synonymous SNV PRUNE:NM_021222:exon8:c.C1191A:p.G397G exonic ENSG00000143363 NA synonymous SNV ENSG00000143363:ENST00000368934:exon4:c.C486A:p.G162G,ENSG00000143363:ENST00000368935:exon4:c.C336A:p.G112G,ENSG00000143363:ENST00000368937:exon4:c.C486A:p.G162G,ENSG00000143363:ENST00000271619:exon5:c.C555A:p.G185G,ENSG00000143363:ENST00000431193:exon5:c.C486A:p.G162G,ENSG00000143363:ENST00000368936:exon7:c.C645A:p.G215G,ENSG00000143363:ENST00000271620:exon8:c.C1191A:p.G397G NA NA 1q21.3 NA Name=MafK_(ab50322) NA NA rs3738476 0.86 0.86 0.861 0.509385 0.503 0.5952 0.5187 0.4387 0.5164 0.87 0.88 0.86 0.81 0.8457 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398386 NA NA 0.869767 0.824784 NA 0.783 NA 4.4481996 1207 2 132257689 132257689 A G ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA NA NA NA rs3811532 0.33 0.33 0.3 0.334465 0.2187 0.6806 0.4265 0.1346 0.3016 0.2 0.64 0.37 0.13 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197568 NA NA NA NA NA 0.283 NA 4.4479666 1207 8 15664425 15664425 C A intergenic TUSC3,MSR1 dist=40267;dist=300962 NA NA ncRNA_exonic ENSG00000250483 NA NA NA Score=789;Name=lod=2141 NA 8p22 NA NA NA NA rs7018168 0.42 0.42 0.407 0.352835 0.5527 0.4643 0.4121 0.0885 0.3476 0.57 0.49 0.43 0.12 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067729 NA NA NA NA NA 0.355 NA 4.4473 1207 11 124109404 124109404 C T intergenic OR8G2,OR8G1 dist=13092;dist=11019 NA NA ncRNA_exonic ENSG00000254845 NA NA NA NA NA 11q24.2 NA Name=eGFP-JunD,MafK_(ab50322),USF-1 NA NA rs11219518 0.5 0.5 0.417 0.444688 0.5527 0.5833 0.5591 0.3154 0.2843 0.54 0.59 0.54 0.31 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.145096 NA NA NA NA NA 0.304 NA 4.4473 1207 10 43595968 43595968 A G exonic RET NA synonymous SNV RET:NM_020630:exon2:c.A135G:p.A45A,RET:NM_020975:exon2:c.A135G:p.A45A exonic ENSG00000165731 NA synonymous SNV ENSG00000165731:ENST00000340058:exon2:c.A135G:p.A45A,ENSG00000165731:ENST00000355710:exon2:c.A135G:p.A45A NA NA 10q11.21 NA NA NA NA rs1800858 0.72 0.72 0.742 0.753594 0.7435 0.5268 0.7493 0.9803 0.6943 0.7 0.53 0.78 0.91 0.7365 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529861 NA NA 0.739419 0.945302 NA 0.717 CLINSIG=other|non-pathogenic;CLNDBN=Hirschsprung_disease_1|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000014967.1|RCV000127776.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK1439:CN030431:142623:ORPHA388|. 4.4472476 1207 22 41566595 41566595 C T intronic EP300 NA NA NA ncRNA_intronic ENSG00000232754 NA NA NA NA NA 22q13.2 NA NA NA NA rs6002271 0.23 0.23 0.175 0.248403 0.3062 0.0516 0.5187 0.115 0.3804 0.31 0.06 0.51 0.12 0.3011 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.20602 NA NA 0.278953 0.128915 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079678.1;CLNDSDB=.;CLNDSDBID=. 4.4470803 1207 2 132256559 132256559 T C ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA NA NA NA rs3817574 0.34 0.34 0.291 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.21 0.66 0.37 0.13 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01662 NA NA NA NA NA 0.275 NA 4.4469666 1207 2 132258031 132258031 A G ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA NA NA NA rs3108473 0.32 0.32 0.253 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.19 0.63 0.36 0.13 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133201 NA NA NA NA NA 0.29 NA 4.4469666 1207 2 132258815 132258815 G A ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA NA NA NA rs12691986 0.32 0.32 0.248 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.2 0.63 0.36 0.13 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337555 NA NA NA NA NA 0.029 NA 4.4469666 1207 2 132266301 132266301 C T ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA NA NA NA rs13011045 0.34 0.34 0.251 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.21 0.66 0.38 0.13 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131767 NA NA NA NA NA NA NA 4.4469666 1207 2 132266303 132266303 C A ncRNA_intronic LOC150776,RNU6-81P NA NA NA ncRNA_intronic ENSG00000152117 NA NA NA NA NA 2q21.1 NA NA NA NA rs13011046 0.34 0.34 0.243 0.334665 0.2197 0.6806 0.4265 0.1346 0.3016 0.21 0.66 0.38 0.13 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148191 NA NA NA NA NA NA NA 4.4469666 1207 10 5249213 5249213 A G intronic AKR1C4 NA NA NA ncRNA_exonic ENSG00000228291 NA NA NA Score=686;Name=lod=818 NA 10p15.1 NA NA NA NA rs1889457 0.82 0.82 0.788 0.796326 0.8867 0.9871 0.8862 0.4705 0.8834 0.89 0.99 0.88 0.45 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102621 NA NA NA NA NA 0.732 NA 4.4466333 1207 10 5249377 5249377 A T intronic AKR1C4 NA NA NA ncRNA_exonic ENSG00000228291 NA NA NA Score=686;Name=lod=818 NA 10p15.1 NA NA NA NA rs1334474 0.81 0.81 0.782 0.790735 0.8867 0.9861 0.8847 0.4508 0.8834 0.89 0.99 0.88 0.44 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340056 NA NA NA NA NA 0.717 NA 4.4466333 1207 12 123460823 123460823 A G UTR5 OGFOD2 NM_024623:c.-117A>G NA NA exonic ENSG00000111325 NA synonymous SNV ENSG00000111325:ENST00000537966:exon3:c.A213G:p.P71P NA NA 12q24.31 NA Name=GATA-1 NA NA rs883563 0.77 0.77 0.765 0.750998 0.7674 0.8343 0.6945 0.7352 0.7096 0.77 0.83 0.72 0.73 0.786 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077771 NA NA NA NA NA 0.761 NA 4.4466 1207 10 85992511 85992511 T C exonic LRIT1 NA synonymous SNV LRIT1:NM_015613:exon4:c.A1044G:p.P348P exonic ENSG00000148602 NA synonymous SNV ENSG00000148602:ENST00000372105:exon4:c.A1044G:p.P348P NA NA 10q23.1 NA NA NA NA rs3814209 0.47 0.47 0.47 0.492812 0.3976 0.2579 0.4798 0.8661 0.3374 0.41 0.26 0.44 0.86 0.4323 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243153 NA NA 0.390349 0.77803 NA 0.565 NA 4.4464176 1207 11 5906143 5906143 T C exonic OR52E4 NA synonymous SNV OR52E4:NM_001005165:exon1:c.T621C:p.Y207Y exonic ENSG00000180974 NA synonymous SNV ENSG00000180974:ENST00000316987:exon1:c.T621C:p.Y207Y NA NA 11p15.4 NA NA NA NA rs11823809 0.38 0.38 0.365 0.357827 0.4085 0.3641 0.402 0.3222 0.316 0.42 0.36 0.42 0.32 0.3902 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177684 NA NA 0.421904 0.341209 NA 0.355 NA 4.4460626 1207 14 107095556 107095556 T C intergenic LINC00221,NONE dist=144027;dist=NONE NA NA exonic ENSG00000211970 NA synonymous SNV ENSG00000211970:ENST00000390630:exon1:c.A6G:p.K2K NA NA 14q32.33 NA NA NA NA rs186772573 0.05 0.05 NA NA NA NA NA NA NA 0.03 0.02 0.04 0.12 0.0448 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450762 NA NA 0.009814 0.043529 NA NA NA 4.445386 1207 22 17402322 17402322 G A intergenic HSFY1P1,GAB4 dist=92097;dist=40505 NA NA downstream ENSG00000253460 NA NA NA Score=414;Name=lod=64 NA 22q11.1 NA NA NA NA rs13433557 0.06 0.06 0.064 0.0587061 0.0547 NA 0.0533 0.1452 0.0102 0.05 NA 0.05 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289866 NA NA NA NA NA 0.08 NA 4.4453 1207 4 56471433 56471433 A G intronic NMU NA NA NA intronic ENSG00000109255 NA NA NA NA NA 4q12 NA NA Name=3 NA rs1873091 0.14 0.14 0.123 0.145168 0.2048 0.0972 0.1542 0.0484 0.2577 0.2 0.11 0.19 0.05 0.1726 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.401729 NA NA 0.177326 0.067635 NA 0.123 NA 4.445274 1207 7 20721084 20721084 T C intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA Name=FOXA2_(SC-6554) NA NA rs11764760 0.19 0.19 0.178 0.188299 0.1809 0.2272 0.183 0.1725 0.181 0.19 0.23 0.18 0.14 0.1889 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574203 NA NA 0.185116 0.190195 NA 0.145 NA 4.445084 1208 3 178962517 178962517 T C intronic KCNMB3 NA NA NA intronic ENSG00000171121 NA NA NA NA NA 3q26.32 NA Name=FOXA1_(C-20) NA NA rs4080957 0.22 0.22 0.222 0.279553 0.1978 0.1081 0.2594 0.4955 0.2628 0.18 0.08 0.25 0.45 0.1874 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859819 NA NA 0.169809 0.399682 NA 0.355 NA 4.444991 1208 17 80045147 80045147 G A intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA Name=Pol2 NA NA rs17848935 0.11 0.11 0.091 0.0858626 0.1859 0.0506 0.1081 0.0272 0.0828 0.2 0.06 0.13 0.04 0.1682 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760525 NA NA 0.201353 0.053138 NA 0.087 NA 4.444547 1208 9 34290407 34290407 C T intronic KIF24 NA NA NA intronic ENSG00000186638 NA NA NA NA NA 9p13.3 Score=916;Name=V$PAX4_02 NA NA NA rs11790773 0.17 0.17 0.16 0.184704 0.166 0.2748 0.1628 0.0446 0.316 0.17 0.26 0.17 0.05 0.2067 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.375787 2.375787 NA 0.182906 0.05409 NA 0.109 NA 4.444394 1208 5 34687246 34687246 G A intronic RAI14 NA NA NA intronic ENSG00000039560 NA NA NA NA NA 5p13.2 NA Name=Rad21,TBP,CTCF,c-Fos,KAP1,ZNF263,Pol2,SMC3_(ab9263) NA NA rs895357 0.33 0.33 0.288 0.361222 0.5557 0.126 0.4409 0.1271 0.6636 0.56 0.09 0.45 0.15 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764541 NA NA NA NA NA 0.239 NA 4.4443 1208 12 57492996 57492996 G A intronic STAT6 NA NA NA intronic ENSG00000166888 NA NA NA NA NA 12q13.3 NA NA Name=2 NA rs841718 0.45 0.45 0.389 0.42492 0.5557 0.3313 0.5375 0.2943 0.4836 0.56 0.3 0.56 0.36 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09716 NA NA NA NA NA 0.341 NA 4.4443 1208 14 22971137 22971137 G T intergenic OR4E2,DAD1 dist=836899;dist=62670 NA NA upstream;downstream ENSG00000211851;ENSG00000211850 NA NA NA NA NA 14q11.2 NA NA Name=9 NA rs17118919 0.06 0.06 0.054 0.0648962 0.0557 0.002 0.0677 0.1339 0.044 0.06 NA 0.07 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390478 1.390478 NA NA NA NA 0.058 NA 4.4443 1208 16 14334526 14334526 C T intronic MKL2 NA NA NA exonic ENSG00000186260 NA synonymous SNV ENSG00000186260:ENST00000573051:exon9:c.C981T:p.F327F NA NA 16p13.12 NA NA NA NA rs45520934 0.07 0.07 0.056 0.0463259 0.1471 NA 0.062 0.0174 0.0184 0.15 NA 0.07 0.02 0.1039 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32399 NA NA 0.138122 0.03653 NA 0.123 NA 4.4442113 1208 17 62407030 62407030 A G intronic PECAM1 NA NA NA intergenic ENSG00000256358,ENSG00000271605 dist=20980;dist=54539 NA NA NA NA 17q23.3 NA NA Name=11 NA rs45588632 0.04 0.04 0.031 0.0311502 0.0775 0.001 0.0418 0.0008 0.0481 0.08 0.0017 0.05 NA 0.0807 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895153 NA NA 0.064932 0.0128 NA 0.036 NA 4.4435347 1208 1 167992344 167992344 T A intronic DCAF6 NA NA NA UTR3 ENSG00000143164 ENST00000470721:c.*201T>A NA NA NA NA 1q24.2 Score=798;Name=V$OCT1_04 NA NA NA rs201541 0.42 0.42 0.4 0.433506 0.3608 0.1895 0.5432 0.7549 0.2474 0.36 0.19 0.48 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089051 NA NA 0.362351 0.684249 NA 0.464 NA 4.4435157 1208 8 15664697 15664697 T C intergenic TUSC3,MSR1 dist=40539;dist=300690 NA NA ncRNA_exonic ENSG00000250483 NA NA NA Score=612;Name=lod=409 NA 8p22 NA NA NA NA rs1349978 0.45 0.45 0.446 0.39357 0.5567 0.4841 0.4164 0.2171 0.3548 0.57 0.52 0.43 0.22 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578657 NA NA NA NA NA 0.391 NA 4.4433 1208 15 40494960 40494960 A C intronic BUB1B NA NA NA intronic ENSG00000156970 NA NA NA NA NA 15q15.1 NA NA Name=7 NA rs12898804 0.36 0.36 0.335 0.348642 0.5567 0.2698 0.4452 0.09 0.4969 0.55 0.28 0.43 0.1 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.777763 1.777763 NA NA NA NA 0.399 NA 4.4433 1208 16 49557482 49557482 C T intronic ZNF423 NA NA NA intronic ENSG00000102935 NA NA NA NA NA 16q12.1 NA NA Name=2 NA rs2287314 0.58 0.58 0.618 0.578874 0.5567 0.4712 0.5058 0.7988 0.4673 0.56 0.46 0.53 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609598 NA NA NA NA NA 0.645 NA 4.4433 1208 15 89424581 89424581 A G intronic HAPLN3 NA NA NA intronic ENSG00000140511 NA NA NA NA NA 15q26.1 Score=908;Name=V$PAX4_03 NA NA NA rs938605 0.23 0.23 0.224 0.257588 0.1789 0.253 0.2133 0.3434 0.2587 0.18 0.23 0.22 0.33 0.2056 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776205 NA NA 0.172406 0.318864 NA 0.312 NA 4.443094 1208 1 9324571 9324571 T C exonic H6PD NA synonymous SNV H6PD:NM_004285:exon5:c.T2019C:p.Y673Y exonic ENSG00000049239 NA synonymous SNV ENSG00000049239:ENST00000377403:exon5:c.T2019C:p.Y673Y,ENSG00000049239:ENST00000602477:exon5:c.T2052C:p.Y684Y NA NA 1p36.22 NA NA NA NA rs9434742 0.36 0.36 0.347 0.402955 0.4115 0.1657 0.4207 0.497 0.499 0.44 0.14 0.42 0.44 0.4157 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52844 NA NA 0.396463 0.487971 ID=COSM426841;OCCURENCE=1(breast) 0.413 NA 4.4430036 1208 1 209799253 209799253 A G exonic LAMB3 NA synonymous SNV LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C exonic ENSG00000196878 NA synonymous SNV ENSG00000196878:ENST00000391911:exon13:c.T1716C:p.C572C,ENSG00000196878:ENST00000356082:exon14:c.T1716C:p.C572C,ENSG00000196878:ENST00000367030:exon14:c.T1716C:p.C572C Score=499;Name=lod=142 NA 1q32.2 NA NA NA NA rs2179402 0.77 0.77 0.765 0.764976 0.7326 0.8304 0.7075 0.7837 0.7464 0.72 0.83 0.76 0.77 0.7565 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091924 NA NA 0.735 0.767484 NA 0.775 NA 4.4425666 1208 5 125967404 125967404 T A upstream C5orf48 NA NA NA upstream ENSG00000196900 NA NA NA Score=304;Name=lod=23 NA 5q23.2 NA NA NA NA rs6862980 0.2 0.2 0.218 0.23123 0.0606 0.2073 0.0893 0.5832 0.0562 0.05 0.17 0.1 0.52 0.1081 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830579 NA NA 0.055465 0.490695 NA 0.312 NA 4.4425016 1208 5 156849722 156849722 C A intergenic CYFIP2,NIPAL4 dist=27116;dist=37305 NA NA ncRNA_exonic ENSG00000253155 NA NA NA Score=743;Name=lod=1391 NA 5q33.3 NA NA NA NA rs1833736 0.56 0.56 0.552 0.567891 0.5577 0.7123 0.5634 0.4448 0.5992 0.57 0.69 0.52 0.43 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521652 NA NA NA NA NA 0.522 NA 4.4423 1208 14 51245666 51245666 T C intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA NA Name=48 NA rs7143959 0.56 0.56 0.516 0.538738 0.5577 0.8204 0.5865 0.1694 0.6943 0.58 0.83 0.59 0.17 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44091 NA NA NA NA NA 0.507 NA 4.4423 1208 10 73544604 73544604 T C intronic CDH23 NA NA NA intronic ENSG00000107736 NA NA NA NA NA 10q22.1 NA Name=ZNF263 NA NA rs7068810 0.21 0.21 0.198 0.201677 0.1968 0.2401 0.1657 0.2474 0.1309 0.19 0.21 0.15 0.26 0.1841 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141428 NA NA 0.176965 0.25118 NA 0.239 NA 4.442135 1208 15 89385151 89385151 T G intronic ACAN NA NA NA intronic ENSG00000157766 NA NA NA NA NA 15q26.1 NA Name=CTCF NA NA rs2293087 0.44 0.44 0.441 0.444688 0.5586 0.2897 0.3674 0.4902 0.4806 0.56 0.25 0.43 0.48 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273259 NA NA NA NA NA 0.457 NA 4.4414 1208 19 12484469 12484469 G A intergenic ZNF442,ZNF799 dist=7994;dist=16359 NA NA ncRNA_exonic ENSG00000231361 NA NA NA Score=295;Name=lod=21 NA 19p13.2 NA NA NA NA rs12461201 0.63 0.63 0.614 0.621605 0.5586 0.9038 0.634 0.4054 0.6789 0.55 0.93 0.59 0.44 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060907 NA NA NA NA NA 0.594 NA 4.4414 1208 11 290816 290816 A G exonic ATHL1 NA synonymous SNV ATHL1:NM_025092:exon4:c.A609G:p.A203A exonic ENSG00000142102 NA synonymous SNV ENSG00000142102:ENST00000409479:exon3:c.A609G:p.A203A,ENSG00000142102:ENST00000409548:exon4:c.A609G:p.A203A,ENSG00000142102:ENST00000409655:exon4:c.A78G:p.A26A NA NA 11p15.5 Score=869;Name=V$NF1_Q6 NA NA NA rs10902120 0.65 0.65 0.665 0.666534 0.7475 0.4504 0.6816 0.7292 0.7106 0.75 0.44 0.71 0.71 0.7155 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563384 NA NA 0.763256 0.727871 NA 0.688 NA 4.4404106 1208 1 183077615 183077615 C T intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 Score=872;Name=V$FREAC7_01 NA NA NA rs3765521 0.51 0.51 0.459 0.505192 0.5596 0.629 0.6138 0.2398 0.6033 0.57 0.58 0.57 0.29 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477515 NA NA NA NA NA 0.42 NA 4.4404 1208 5 150838293 150838293 T C intronic SLC36A1 NA NA NA intronic ENSG00000123643 NA NA NA NA NA 5q33.1 Score=830;Name=V$SRF_Q6 NA NA NA rs35074529 0.61 0.61 0.636 0.645367 0.5596 0.6508 0.4539 0.7383 0.7382 0.56 0.63 0.48 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254457 NA NA NA NA NA 0.565 NA 4.4404 1208 12 999762 999762 A G intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA NA Name=5 NA rs2255390 0.55 0.55 0.566 0.582268 0.5596 0.4663 0.5548 0.643 0.6626 0.56 0.48 0.54 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188026 NA NA NA NA NA 0.688 NA 4.4404 1208 7 140110781 140110781 G C intronic RAB19 NA NA NA exonic ENSG00000146955 NA synonymous SNV ENSG00000146955:ENST00000275874:exon3:c.G210C:p.S70S NA NA 7q34 NA NA NA NA rs2971689 0.06 0.06 0.051 0.0878594 0.1312 0.003 0.0648 0.028 0.228 0.14 0.0035 0.06 0.02 0.1208 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672559 NA NA 0.141395 0.036995 NA 0.058 NA 4.4399383 1208 3 169558025 169558025 C T exonic LRRC31 NA synonymous SNV LRRC31:NM_001277128:exon8:c.G1236A:p.A412A,LRRC31:NM_024727:exon9:c.G1404A:p.A468A exonic ENSG00000114248 NA synonymous SNV ENSG00000114248:ENST00000264676:exon8:c.G1236A:p.A412A,ENSG00000114248:ENST00000316428:exon9:c.G1404A:p.A468A NA NA 3q26.2 NA NA NA NA rs3732451 0.54 0.54 0.523 0.558906 0.3897 0.754 0.6037 0.5499 0.5123 0.39 0.76 0.54 0.52 0.469 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771413 NA NA 0.368031 0.497024 NA 0.449 NA 4.4399356 1208 1 111550436 111550436 C T intergenic LRIF1,DRAM2 dist=43870;dist=109518 NA NA ncRNA_exonic ENSG00000225672 NA NA NA Score=498;Name=lod=141 NA 1p13.3 NA NA NA NA rs1149191 0.5 0.5 0.519 0.491813 0.5606 0.3552 0.5548 0.6339 0.3252 0.55 0.35 0.51 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076908 NA NA NA NA NA 0.442 NA 4.4394 1208 1 183100598 183100598 T G intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA Name=7 NA rs4047797 NA NA NA 0.525759 0.5606 0.624 0.6225 0.3253 0.591 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682682 NA NA NA NA NA NA NA 4.4394 1208 1 189960204 189960204 A G intergenic NONE,FAM5C dist=NONE;dist=106593 NA NA ncRNA_exonic ENSG00000230987 NA NA NA Score=687;Name=lod=826 NA 1q31.1 NA NA NA NA rs1320748 0.65 0.65 0.626 0.675919 0.5606 0.6062 0.7147 0.8343 0.6247 0.56 0.61 0.65 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004439 NA NA NA NA NA 0.703 NA 4.4394 1208 2 174202964 174202964 C T intergenic MLK7-AS1,CDCA7 dist=56200;dist=16597 NA NA ncRNA_exonic ENSG00000236391 NA NA NA Score=352;Name=lod=36 NA 2q31.1 NA NA NA NA rs13020898 0.47 0.47 0.444 0.444888 0.5606 0.5615 0.5548 0.2065 0.4499 0.55 0.55 0.54 0.21 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891188 NA NA NA NA NA 0.551 NA 4.4394 1208 4 58969470 58969470 T C intergenic LOC255130,NONE dist=898005;dist=NONE NA NA ncRNA_exonic ENSG00000248660 NA NA NA Score=300;Name=lod=22 NA 4q12 NA NA NA NA rs7698082 0.52 0.52 0.476 0.511581 0.5606 0.4891 0.6239 0.469 0.4622 0.55 0.5 0.58 0.44 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658512 NA NA NA NA NA 0.478 NA 4.4394 1208 17 73552062 73552062 G C intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA Name=FOXA1_(C-20),RXRA,FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs2305528 0.45 0.45 0.464 0.450679 0.5606 0.4683 0.3905 0.2693 0.6074 0.57 0.48 0.43 0.24 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241602 NA NA NA NA NA 0.471 NA 4.4394 1208 19 16021888 16021888 G A intergenic CYP4F2,CYP4F11 dist=13004;dist=1292 NA NA ncRNA_exonic ENSG00000267056 NA NA NA Score=514;Name=lod=164 NA 19p13.12 NA NA NA NA rs12459140 0.47 0.47 0.455 0.427915 0.5606 0.2738 0.464 0.4607 0.3804 0.56 0.3 0.48 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149725 NA NA NA NA NA 0.616 NA 4.4394 1208 19 16021907 16021907 T C intergenic CYP4F2,CYP4F11 dist=13023;dist=1273 NA NA ncRNA_exonic ENSG00000267056 NA NA NA Score=514;Name=lod=164 NA 19p13.12 NA NA NA NA rs12461990 0.47 0.47 0.426 0.427915 0.5606 0.2738 0.464 0.4607 0.3804 0.56 0.3 0.48 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452375 1.452375 NA NA NA NA 0.616 NA 4.4394 1208 19 16022000 16022000 A G intergenic CYP4F2,CYP4F11 dist=13116;dist=1180 NA NA ncRNA_exonic ENSG00000267056 NA NA NA Score=701;Name=lod=938 NA 19p13.12 NA NA NA NA rs10518254 0.47 0.47 0.442 0.427915 0.5606 0.2738 0.464 0.4607 0.3804 0.56 0.3 0.48 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010219 NA NA NA NA NA 0.616 NA 4.4394 1208 22 22707576 22707576 T A intergenic LOC96610,ZNF280B dist=30252;dist=131196 NA NA exonic ENSG00000211647 NA nonsynonymous SNV ENSG00000211647:ENST00000390293:exon2:c.T164A:p.F55Y NA NA 22q11.22 NA NA NA NA rs117042445 0.13 0.13 0.059 0.195487 0.2207 0.2034 0.1585 0.1778 0.2117 0.14 0.13 0.11 0.12 0.1734 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.490735 NA 1 NA NA NA 0.116 NA 4.4392334 1208 4 70284745 70284745 T C intergenic UGT2B28,UGT2B4 dist=123977;dist=61138 NA NA ncRNA_exonic ENSG00000249956 NA NA NA Score=450;Name=lod=90 NA 4q13.2 NA NA NA NA rs2642839 0.47 0.47 0.378 0.475439 0.5616 0.4901 0.5029 0.3548 0.5153 0.53 0.48 0.47 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071909 NA 0 NA NA NA 0.333 NA 4.4384 1208 11 67399970 67399970 C T intronic TBX10 NA NA NA intronic ENSG00000167800 NA NA NA NA NA 11q13.2 NA Name=RXRA,p300,HNF4G_(SC-6558),HNF4A,TCF4,SP1,HDAC2_(SC-6296),HNF4A_(H-171) NA NA rs3765088 0.46 0.46 0.423 0.430511 0.5616 0.6587 0.3746 0.0537 0.6094 0.57 0.65 0.42 0.08 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957467 NA NA NA NA NA 0.384 NA 4.4384 1208 4 56471404 56471404 C T intronic NMU NA NA NA intronic ENSG00000109255 NA NA NA NA NA 4q12 NA NA Name=3 NA rs1873090 0.15 0.15 0.137 0.163938 0.2058 0.0952 0.1556 0.1195 0.2577 0.2 0.1 0.19 0.09 0.1784 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055879 NA NA 0.177558 0.128461 NA 0.123 NA 4.438242 1208 10 29812602 29812602 G T exonic SVIL NA synonymous SNV SVIL:NM_003174:exon13:c.C1663A:p.R555R,SVIL:NM_021738:exon15:c.C2941A:p.R981R exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000375400:exon13:c.C1663A:p.R555R,ENSG00000197321:ENST00000355867:exon15:c.C2941A:p.R981R,ENSG00000197321:ENST00000375398:exon17:c.C2941A:p.R981R NA NA 10p11.23 NA NA NA NA rs7070678 0.36 0.36 0.384 0.382388 0.4284 0.0804 0.438 0.562 0.364 0.44 0.1 0.44 0.49 0.3909 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107747 NA NA 0.409419 0.546754 ID=COSM1347520;OCCURENCE=1(large_intestine) 0.493 NA 4.4379476 1208 10 94967039 94967039 C T intergenic CYP26A1,MYOF dist=129398;dist=99147 NA NA ncRNA_exonic ENSG00000237417 NA NA NA Score=647;Name=lod=566 NA 10q23.33 NA NA NA NA rs7070948 0.38 0.38 0.387 0.387979 0.5626 0.0526 0.4107 0.5136 0.3681 0.55 0.06 0.44 0.45 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155282 NA NA NA NA NA 0.355 NA 4.4374 1208 16 10934763 10934763 A T intergenic TVP23A,CIITA dist=22142;dist=36292 NA NA ncRNA_exonic ENSG00000262488 NA NA NA Score=599;Name=lod=361 NA 16p13.13 NA NA NA NA rs12920435 0.55 0.55 0.51 0.529353 0.5626 0.5437 0.6484 0.4077 0.5603 0.58 0.54 0.65 0.43 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342214 NA NA NA NA NA 0.652 NA 4.4374 1208 20 3214819 3214819 T G exonic SLC4A11 NA synonymous SNV SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R exonic ENSG00000088836 NA synonymous SNV ENSG00000088836:ENST00000380056:exon4:c.A481C:p.R161R,ENSG00000088836:ENST00000380059:exon5:c.A562C:p.R188R,ENSG00000088836:ENST00000437836:exon5:c.A433C:p.R145R,ENSG00000088836:ENST00000539553:exon5:c.A433C:p.R145R NA NA 20p13 NA NA NA NA rs3827075 0.49 0.49 0.433 0.479832 0.3956 0.5357 0.4251 0.671 0.2894 0.39 0.52 0.45 0.66 0.4365 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922011 NA NA 0.397326 0.644122 NA 0.348 NA 4.4372406 1208 6 159188282 159188282 T G intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA Name=Pol2 NA NA rs9364994 0.11 0.11 0.085 0.127995 0.1918 0.0734 0.1023 0.0159 0.2883 0.2 0.06 0.13 0.03 0.1778 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351359 NA NA 0.193953 0.048797 NA 0.072 NA 4.436447 1208 1 183100596 183100596 A G intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA Name=7 NA rs2333619 NA NA NA 0.530751 0.5636 0.624 0.6254 0.3313 0.6033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195021 NA NA NA NA NA NA NA 4.4364 1208 4 106600338 106600338 A C UTR3 ARHGEF38 NM_001242729:c.*1244A>C NA NA ncRNA_exonic ENSG00000248778 NA NA NA NA NA 4q24 NA NA NA NA rs11731386 0.04 0.04 0.038 0.0321486 0.0636 NA 0.0591 0.0272 0.0204 0.07 NA 0.07 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445319 NA NA NA NA NA 0.029 NA 4.4364 1208 19 52376952 52376952 T A exonic ZNF577 NA synonymous SNV ZNF577:NM_032679:exon7:c.A291T:p.V97V exonic ENSG00000161551 NA synonymous SNV ENSG00000161551:ENST00000458390:exon6:c.A291T:p.V97V,ENSG00000161551:ENST00000301399:exon7:c.A291T:p.V97V NA NA 19q13.41 NA NA NA NA rs8107969 0.45 0.45 0.45 0.50639 0.3897 0.3026 0.4553 0.68 0.638 0.4 0.31 0.48 0.68 0.4545 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068722 NA NA 0.386602 0.634816 NA 0.594 NA 4.4358646 1208 20 47850182 47850182 C T exonic DDX27 NA synonymous SNV DDX27:NM_017895:exon11:c.C1302T:p.F434F exonic ENSG00000124228 NA synonymous SNV ENSG00000124228:ENST00000371764:exon11:c.C1302T:p.F434F Score=543;Name=lod=214 NA 20q13.13 NA NA NA NA rs238148 0.65 0.65 0.632 0.605831 0.7644 0.5258 0.647 0.525 0.6053 0.75 0.52 0.67 0.6 0.6969 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223922 NA NA 0.769651 0.552202 NA 0.623 NA 4.4357156 1208 17 28885367 28885367 A G intergenic GOSR1,TBC1D29 dist=31535;dist=1217 NA NA ncRNA_exonic ENSG00000266775 NA NA NA Score=325;Name=lod=28 NA 17q11.2 NA NA NA NA rs216453 0.64 0.64 0.663 0.655751 0.5646 0.7629 0.5576 0.7511 0.5798 0.57 0.74 0.54 0.71 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325395 NA NA NA NA NA 0.478 NA 4.4354 1209 6 167711418 167711418 A G intronic UNC93A NA NA NA intronic ENSG00000112494 NA NA NA NA NA 6q27 NA Name=SETDB1 NA NA rs1555033 0.22 0.22 0.218 0.204872 0.1759 0.2212 0.1441 0.2995 0.1329 0.17 0.22 0.19 0.31 0.1904 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228997 NA NA 0.198721 0.295279 NA 0.196 NA 4.434979 1209 19 49950356 49950356 C G exonic PIH1D1 NA synonymous SNV PIH1D1:NM_017916:exon7:c.G612C:p.G204G exonic ENSG00000104872 NA synonymous SNV ENSG00000104872:ENST00000262265:exon7:c.G612C:p.G204G,ENSG00000104872:ENST00000601807:exon7:c.G579C:p.G193G,ENSG00000104872:ENST00000596049:exon8:c.G612C:p.G204G Score=349;Name=lod=35 NA 19q13.33 NA NA NA NA rs12443 0.67 0.67 0.684 0.677915 0.7545 0.4067 0.6412 0.8964 0.6094 0.74 0.38 0.66 0.89 0.7105 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860508 NA NA 0.76686 0.861779 ID=COSM1162800;OCCURENCE=1(pancreas) 0.783 NA 4.4348066 1209 6 31239296 31239296 G C intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8,Pol2,NFKB NA NA rs9264666 0.58 0.58 0.401 0.599641 0.5656 0.6905 0.6182 0.5318 0.6196 0.55 0.64 0.57 0.54 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840853 NA NA NA NA NA 0.072 NA 4.4344 1209 19 51359503 51359503 A G exonic KLK3 NA synonymous SNV KLK3:NM_001030047:exon2:c.A54G:p.A18A,KLK3:NM_001030048:exon2:c.A54G:p.A18A,KLK3:NM_001648:exon2:c.A54G:p.A18A exonic ENSG00000142515 NA synonymous SNV ENSG00000142515:ENST00000326003:exon2:c.A54G:p.A18A,ENSG00000142515:ENST00000360617:exon2:c.A54G:p.A18A,ENSG00000142515:ENST00000422986:exon2:c.A54G:p.A18A,ENSG00000142515:ENST00000593997:exon2:c.A54G:p.A18A,ENSG00000142515:ENST00000595392:exon2:c.A54G:p.A18A,ENSG00000142515:ENST00000595952:exon2:c.A54G:p.A18A,ENSG00000142515:ENST00000597483:exon2:c.A54G:p.A18A NA NA 19q13.33 NA NA NA NA rs1135766 0.4 0.4 0.355 0.339856 0.4195 0.4851 0.4914 0.1921 0.2004 0.42 0.49 0.49 0.19 0.3961 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375147 NA NA 0.41686 0.243078 ID=COSM1395572,COSM1395573;OCCURENCE=1(large_intestine) 0.348 NA 4.4342066 1209 19 3534842 3534842 G A UTR3 FZR1 NM_016263:c.*8G>A,NM_001136197:c.*8G>A,NM_001136198:c.*8G>A NA NA UTR3 ENSG00000105325 ENST00000441788:c.*8G>A NA NA NA NA 19p13.3 NA Name=Pol2(phosphoS2),Pol2 NA NA rs10155 0.4 0.4 0.364 0.348043 0.2942 0.7976 0.4726 0.0151 0.3016 0.3 0.83 0.41 0.03 0.3344 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167553 NA NA 0.270698 0.062216 NA 0.297 NA 4.4340354 1209 8 131414257 131414257 G A intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA NA NA 8q24.21 NA NA Name=13 NA rs10090767 0.29 0.29 0.296 0.285942 0.2783 0.0764 0.2954 0.5144 0.1943 0.28 0.09 0.3 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.603743 1.603743 NA 0.288184 0.443642 NA 0.377 NA 4.433516 1209 1 33985353 33985353 C G intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA Name=PU.1 NA NA rs2641959 0.63 0.63 0.675 0.64357 0.5666 0.7341 0.5231 0.7103 0.6247 0.56 0.75 0.53 0.67 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550632 NA NA NA NA NA 0.775 NA 4.4334 1209 11 49385596 49385596 A G intergenic FOLH1,LOC440040 dist=155374;dist=194484 NA NA ncRNA_intronic ENSG00000255532 NA NA NA Score=610;Name=lod=402 NA 11p11.12 NA NA NA NA rs10839269 0.48 0.48 0.419 0.45008 0.5666 0.5496 0.6153 0.171 0.4877 0.58 0.54 0.62 0.16 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727816 NA NA NA NA NA 0.377 NA 4.4334 1209 4 7714490 7714490 T C exonic SORCS2 NA synonymous SNV SORCS2:NM_020777:exon15:c.T1899C:p.D633D exonic ENSG00000184985 NA synonymous SNV ENSG00000184985:ENST00000329016:exon15:c.T1383C:p.D461D,ENSG00000184985:ENST00000507866:exon15:c.T1899C:p.D633D Score=589;Name=lod=329 NA 4p16.1 NA NA NA NA rs4689833 0.82 0.82 0.817 0.846046 0.7266 0.999 0.7997 0.7867 0.9243 0.73 1 0.78 0.78 0.7929 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049713 NA NA 0.713997 0.807389 NA 0.826 NA 4.4331696 1209 17 37190141 37190141 T C ncRNA_intronic LRRC37A11P NA NA NA ncRNA_intronic ENSG00000214553 NA NA NA NA NA 17q12 NA NA NA NA rs9914342 0.22 0.22 0.214 0.239617 0.2336 0.0615 0.2089 0.3646 0.2822 0.23 0.06 0.22 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562962 NA NA NA NA NA 0.326 NA 4.4330666 1209 19 51359497 51359497 T C exonic KLK3 NA synonymous SNV KLK3:NM_001030047:exon2:c.T48C:p.G16G,KLK3:NM_001030048:exon2:c.T48C:p.G16G,KLK3:NM_001648:exon2:c.T48C:p.G16G exonic;splicing ENSG00000142515;ENSG00000142515 ENST00000601503:exon2:c.60+2T>C synonymous SNV ENSG00000142515:ENST00000326003:exon2:c.T48C:p.G16G,ENSG00000142515:ENST00000360617:exon2:c.T48C:p.G16G,ENSG00000142515:ENST00000422986:exon2:c.T48C:p.G16G,ENSG00000142515:ENST00000593997:exon2:c.T48C:p.G16G,ENSG00000142515:ENST00000595392:exon2:c.T48C:p.G16G,ENSG00000142515:ENST00000595952:exon2:c.T48C:p.G16G,ENSG00000142515:ENST00000597483:exon2:c.T48C:p.G16G NA NA 19q13.33 NA NA NA NA rs11573 0.4 0.4 0.347 0.339856 0.4195 0.4851 0.4914 0.1921 0.2004 0.42 0.49 0.49 0.19 0.3972 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170683 NA NA 0.417326 0.241943 NA 0.348 NA 4.4326406 1209 5 178413816 178413816 T C intronic GRM6 NA NA NA ncRNA_intronic ENSG00000254035 NA NA NA NA NA 5q35.3 NA NA NA NA rs2256966 0.58 0.58 0.533 0.544529 0.6451 0.5913 0.6182 0.3941 0.544 0.65 0.6 0.59 0.45 0.6064 0.65 0.06 T . . . . . . 1.000 P . . . . -0.968 T 0.000 T . -1.044 0.202 -1.04 -0.397 -0.457 1.355 -1.043663 NA 0.05 0.649221 0.435769 NA 0.58 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086027.1;CLNDSDB=.;CLNDSDBID=. 4.4326123 1209 12 27234200 27234200 T C exonic C12orf71 NA synonymous SNV C12orf71:NM_001080406:exon2:c.A717G:p.K239K exonic ENSG00000214700 NA synonymous SNV ENSG00000214700:ENST00000429849:exon2:c.A717G:p.K239K NA NA 12p11.23 NA NA NA NA rs708165 0.24 0.24 0.207 0.20028 0.4433 0.0357 0.2176 0.1316 0.2004 0.45 0.04 0.23 0.14 0.3452 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288429 NA NA 0.44576 0.179623 NA 0.225 NA 4.4324066 1209 8 17944663 17944663 C T intergenic ASAH1,NAT1 dist=2156;dist=83308 NA NA ncRNA_exonic ENSG00000245281 NA NA NA Score=497;Name=lod=140 NA 8p22 NA NA NA NA rs2010799 0.57 0.57 0.563 0.598243 0.5676 0.4871 0.5706 0.7201 0.5992 0.56 0.47 0.55 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110763 NA NA NA NA NA 0.688 NA 4.4324 1209 1 94474452 94474452 T G intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs4147856 0.2 0.2 0.175 0.1877 0.1879 0.121 0.232 0.2685 0.1155 0.18 0.16 0.23 0.25 0.1885 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561077 NA NA 0.191279 0.237631 ID=COSN163162;OCCURENCE=1(breast) 0.203 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085758.1;CLNDSDB=.;CLNDSDBID=. 4.432321 1209 1 152975763 152975763 C A exonic SPRR3 NA synonymous SNV SPRR3:NM_001097589:exon2:c.C267A:p.G89G,SPRR3:NM_005416:exon3:c.C267A:p.G89G exonic ENSG00000163209 NA synonymous SNV ENSG00000163209:ENST00000542696:exon1:c.C267A:p.G89G,ENSG00000163209:ENST00000295367:exon2:c.C267A:p.G89G,ENSG00000163209:ENST00000331860:exon3:c.C267A:p.G89G,ENSG00000163209:ENST00000443178:exon3:c.C267A:p.G89G NA NA 1q21.3 NA NA NA NA rs1977734 0.51 0.51 0.467 0.524561 0.5318 0.6319 0.4323 0.5 0.5051 0.48 0.6 0.46 0.48 0.1596 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165216 NA NA 0.54315 0.524512 NA NA NA 4.4321166 1209 17 37186555 37186555 C T ncRNA_exonic LRRC37A11P NA NA NA ncRNA_exonic ENSG00000214553 NA NA NA NA NA 17q12 NA NA NA NA rs9893920 0.18 0.18 0.153 0.1877 0.2346 0.0655 0.1873 0.1589 0.3047 0.24 0.07 0.2 0.2 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307465 NA NA NA NA NA 0.254 NA 4.4320666 1209 19 46202172 46202172 C T intronic QPCTL NA NA NA intronic ENSG00000011478 NA NA NA NA Name=Body mass index 19q13.32 NA NA NA NA rs2287019 0.17 0.17 0.142 0.153954 0.1968 0.1974 0.1153 0.121 0.137 0.19 0.2 0.14 0.12 0.1773 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.176445 NA NA 0.194419 0.118021 NA 0.159 NA 4.431481 1209 3 27665791 27665791 A C intergenic SLC4A7,EOMES dist=139880;dist=92095 NA NA ncRNA_exonic ENSG00000223968 NA NA NA Score=668;Name=lod=692 NA 3p24.1 NA NA NA NA rs6551218 0.64 0.64 0.685 0.642372 0.5686 0.5615 0.5086 0.9039 0.5429 0.57 0.61 0.49 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167326 NA NA NA NA NA 0.674 NA 4.4314 1209 4 70276753 70276753 G A intergenic UGT2B28,UGT2B4 dist=115985;dist=69130 NA NA ncRNA_intronic ENSG00000249956 NA NA NA NA NA 4q13.2 NA Name=FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs4694728 0.5 0.5 0.45 0.498602 0.5686 0.4921 0.5144 0.4365 0.5061 0.57 0.48 0.5 0.42 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77908 NA NA NA NA NA 0.116 NA 4.4314 1209 7 129990103 129990103 G A intronic CPA5 NA NA NA intronic ENSG00000158525 NA NA NA NA NA 7q32.2 NA NA Name=69 NA rs10247573 0.53 0.53 0.512 0.521965 0.5686 0.5516 0.6383 0.4198 0.499 0.58 0.53 0.61 0.38 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272748 NA NA NA NA NA 0.391 NA 4.4314 1209 9 68414103 68414103 T G intergenic ANKRD20A3,LOC642236 dist=443810;dist=13680 NA NA ncRNA_exonic ENSG00000232815 NA NA NA NA NA 9q13 NA NA Name=129 NA rs34380583 NA NA NA 0.624601 0.5686 0.7589 0.5403 0.6415 0.5808 NA NA NA NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785724 NA NA NA NA NA 0.638 NA 4.4314 1209 9 88990063 88990063 G A intergenic ZCCHC6,GAS1 dist=20661;dist=569214 NA NA ncRNA_exonic ENSG00000214908 NA NA NA Score=802;Name=lod=2425 NA 9q21.33 NA NA NA NA rs1854949 0.47 0.47 0.487 0.441494 0.5686 0.4067 0.4784 0.3215 0.4826 0.59 0.46 0.42 0.31 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542863 NA NA NA NA NA 0.522 NA 4.4314 1209 20 56139403 56139403 T C exonic PCK1 NA synonymous SNV PCK1:NM_002591:exon7:c.T1140C:p.G380G exonic ENSG00000124253 NA synonymous SNV ENSG00000124253:ENST00000543666:exon3:c.T189C:p.G63G,ENSG00000124253:ENST00000535860:exon5:c.T744C:p.G248G,ENSG00000124253:ENST00000319441:exon7:c.T1140C:p.G380G Score=313;Name=lod=25 NA 20q13.31 NA NA NA NA rs2070756 0.8 0.8 0.814 0.786941 0.7425 0.7728 0.7147 0.9554 0.6708 0.74 0.78 0.73 0.95 0.7547 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927639 NA NA 0.738721 0.926237 NA 0.812 NA 4.4307456 1209 2 100006620 100006620 G T intronic EIF5B NA NA NA intronic ENSG00000158417 NA NA NA NA NA 2q11.2 NA NA Name=6 NA rs10187843 0.59 0.59 0.564 0.590056 0.5696 0.3671 0.7032 0.7602 0.5307 0.58 0.37 0.7 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313981 NA NA NA NA NA 0.572 NA 4.4304 1209 11 3436095 3436095 G A intergenic LOC650368,TRPC2 dist=5717;dist=211595 NA NA ncRNA_exonic ENSG00000166492 NA NA NA Score=289;Name=lod=20 NA 11p15.4 NA NA NA NA rs2412194 0.68 0.68 0.637 0.708466 0.5696 0.9603 0.7046 0.5946 0.7485 0.58 0.94 0.62 0.57 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201374 NA NA NA NA NA 0.239 NA 4.4304 1209 11 50381417 50381417 T C intergenic LOC646813,OR4A5 dist=1615;dist=1029961 NA NA ncRNA_exonic ENSG00000214883 NA NA NA Score=609;Name=lod=398 NA 11p11.12 NA NA NA NA rs2773517 0.51 0.51 0.491 0.500599 0.5696 0.5556 0.6297 0.3464 0.4898 0.57 0.55 0.64 0.27 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.100915 NA NA NA NA NA 0.507 NA 4.4304 1209 11 117074229 117074229 T C intronic TAGLN NA NA NA intronic ENSG00000149591 NA NA NA NA NA 11q23.3 NA Name=Pol2 NA NA rs641620 0.36 0.36 0.344 0.403355 0.1521 0.5655 0.366 0.447 0.4622 0.16 0.56 0.32 0.47 0.2689 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.066683 2.066683 NA 0.149092 0.435484 NA 0.319 NA 4.429908 1209 9 100970881 100970881 A G intronic TBC1D2 NA NA NA intronic ENSG00000095383 NA NA NA NA NA 9q22.33 NA Name=ERalpha_a NA NA rs10985441 0.61 0.61 0.625 0.603634 0.5706 0.498 0.5692 0.7761 0.5378 0.57 0.54 0.59 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519636 NA NA NA NA NA 0.536 NA 4.4294 1209 6 161137779 161137779 T C exonic PLG NA synonymous SNV PLG:NM_000301:exon7:c.T771C:p.C257C exonic ENSG00000122194 NA synonymous SNV ENSG00000122194:ENST00000308192:exon7:c.T771C:p.C257C NA NA 6q26 NA NA NA NA rs14224 0.45 0.45 0.455 0.44988 0.3976 0.4563 0.3329 0.5537 0.4397 0.41 0.49 0.35 0.54 0.4217 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.715088 NA NA 0.418023 0.522242 NA 0.377 NA 4.4293436 1209 15 22368905 22368905 G A exonic OR4M2 NA synonymous SNV OR4M2:NM_001004719:exon1:c.G330A:p.S110S exonic ENSG00000182974 NA synonymous SNV ENSG00000182974:ENST00000332663:exon1:c.G330A:p.S110S NA NA 15q11.2 NA NA NA NA rs1835182 0.57 0.57 0.536 NA NA NA NA NA NA 0.67 0.51 0.69 0.4 0.6097 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177209 NA NA 0.627907 0.393327 NA 0.536 NA 4.4290596 1209 3 111730546 111730546 G A intronic TAGLN3 NA NA NA intronic ENSG00000144834 NA NA NA NA NA 3q13.2 NA NA Name=8 NA rs3749310 0.42 0.42 0.414 0.384984 0.5716 0.3938 0.5274 0.115 0.4479 0.57 0.42 0.53 0.12 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261136 NA NA NA NA NA 0.486 NA 4.4284 1209 20 33509523 33509523 C T intronic ACSS2 NA NA NA intronic ENSG00000131069 NA NA NA NA NA 20q11.22 NA NA Name=10 NA rs2273683 0.61 0.61 0.658 0.663339 0.5716 0.4345 0.4049 0.972 0.7597 0.59 0.42 0.47 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889937 NA NA NA NA NA 0.775 NA 4.4284 1209 19 47658320 47658320 T C intronic SAE1 NA NA NA intronic ENSG00000142230 NA NA NA NA NA 19q13.32 NA NA Name=3 NA rs11666272 0.22 0.22 0.215 0.211462 0.1948 0.3671 0.2075 0.0968 0.226 0.19 0.4 0.17 0.09 0.1925 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827507 NA NA 0.18457 0.091661 ID=COSN165856;OCCURENCE=1(breast),1(lung) 0.145 NA 4.42813 1209 12 9315209 9315209 A G exonic PZP NA synonymous SNV PZP:NM_002864:exon22:c.T2772C:p.S924S exonic ENSG00000126838 NA synonymous SNV ENSG00000126838:ENST00000381997:exon17:c.T2130C:p.S710S,ENSG00000126838:ENST00000261336:exon22:c.T2772C:p.S924S NA NA 12p13.31 NA NA NA NA rs10771381 0.39 0.39 0.397 0.40655 0.3966 0.4226 0.366 0.3933 0.4468 0.39 0.43 0.38 0.38 0.412 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758511 NA NA 0.43 0.424421 NA 0.377 NA 4.4280666 1209 22 17309881 17309881 A G ncRNA_exonic HSFY1P1 NA NA NA ncRNA_exonic ENSG00000229027 NA NA NA NA NA 22q11.1 NA NA NA NA rs16981741 0.17 0.17 0.156 0.172923 0.2386 0.2569 0.1643 0.0121 0.2423 0.22 0.25 0.14 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067218 NA NA NA NA NA 0.217 NA 4.4280666 1209 5 79030045 79030045 A G exonic CMYA5 NA synonymous SNV CMYA5:NM_153610:exon2:c.A5457G:p.V1819V exonic ENSG00000164309 NA synonymous SNV ENSG00000164309:ENST00000446378:exon2:c.A5457G:p.V1819V NA NA 5q14.1 NA NA NA NA rs4639193 0.58 0.58 0.611 0.584265 0.3917 0.6468 0.4193 0.885 0.4284 0.39 0.67 0.42 0.9 0.4525 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718368 NA NA 0.394505 0.812263 NA 0.652 NA 4.4279616 1209 22 23247082 23247082 C G intergenic IGLL5,RTDR1 dist=9069;dist=154511 NA NA exonic ENSG00000211678 NA nonsynonymous SNV ENSG00000211678:ENST00000390324:exon1:c.C28G:p.P10A NA NA 22q11.22 NA NA NA NA rs2009433 NA NA 0.308 0.287939 0.173 0.498 0.3242 0.1997 0.2832 NA NA NA NA 0.2328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.118082 NA NA NA NA NA NA NA 4.4275334 1209 3 155830283 155830283 T C intergenic GMPS,KCNAB1 dist=174763;dist=8054 NA NA ncRNA_exonic ENSG00000242537 NA NA NA Score=616;Name=lod=425 NA 3q25.31 NA NA NA NA rs7619529 0.54 0.54 0.479 0.488219 0.5726 0.7083 0.7061 0.1467 0.4816 0.57 0.72 0.67 0.17 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.705547 1.705547 NA NA NA NA 0.522 NA 4.4274 1209 3 155830631 155830631 C T intergenic GMPS,KCNAB1 dist=175111;dist=7706 NA NA ncRNA_exonic ENSG00000242537 NA NA NA Score=626;Name=lod=467 NA 3q25.31 NA NA NA NA rs9873706 0.53 0.53 0.468 0.478035 0.5726 0.7083 0.7061 0.1089 0.4806 0.57 0.72 0.67 0.13 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55526 NA NA NA NA NA 0.507 NA 4.4274 1209 7 2749169 2749169 T C intronic AMZ1 NA NA NA intronic ENSG00000174945 NA NA NA NA NA 7p22.3 NA Name=USF2,USF-1 NA NA rs4721977 0.58 0.58 0.396 0.608027 0.5726 0.8214 0.6499 0.3419 0.7546 0.56 0.8 0.59 0.34 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041115 NA NA NA NA NA 0.116 NA 4.4274 1209 21 32435334 32435334 T C intergenic KRTAP19-8,TIAM1 dist=24539;dist=55402 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=845;Name=lod=3636 NA 21q22.11 NA NA NA NA rs11088156 0.35 0.35 0.322 0.352037 0.5726 0.2202 0.3473 0.1649 0.5174 0.59 0.21 0.37 0.15 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363118 NA NA NA NA NA 0.304 NA 4.4274 1209 22 35899384 35899384 C T intergenic MCM5,RASD2 dist=78889;dist=37968 NA NA ncRNA_intronic ENSG00000233388 NA NA NA Score=549;Name=lod=227 NA 22q12.3 NA NA NA NA rs909704 0.62 0.62 0.65 0.630192 0.5726 0.497 0.5187 0.9054 0.5337 0.57 0.52 0.54 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122515 NA NA NA NA NA 0.623 NA 4.4274 1209 6 25726774 25726774 A C UTR5 HIST1H2AA NM_170745:c.-19T>G NA NA UTR5 ENSG00000164508 ENST00000297012:c.-19T>G NA NA NA NA 6p22.2 NA Name=HEY1,NF-YB,Pol2-4H8,Pol2(b),E2F6_(H-50),NF-YA NA NA rs4711095 0.38 0.38 0.314 0.347045 0.2922 0.6825 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 0.3362 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593747 NA NA 0.277791 0.137313 NA 0.283 NA 4.4271424 1209 19 43352340 43352340 T G ncRNA_intronic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs8108570 0.37 0.37 0.339 0.420927 0.2396 0.4048 0.4193 0.5151 0.498 0.25 0.38 0.36 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720517 NA NA NA NA NA 0.442 NA 4.4270666 1209 19 43358505 43358505 G A ncRNA_intronic PSG10P NA NA NA ncRNA_intronic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs10408568 NA NA 0.287 0.420327 0.2396 0.4048 0.4193 0.5151 0.4949 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.859444 NA NA NA NA NA 0.159 NA 4.4270666 1209 10 15029264 15029264 A G intergenic MEIG1,OLAH dist=14414;dist=56631 NA NA ncRNA_exonic ENSG00000235623 NA NA NA Score=452;Name=lod=92 NA 10p13 NA NA NA NA rs7918583 0.65 0.65 0.629 0.717452 0.5736 0.748 0.5605 0.9448 0.638 0.53 0.67 0.52 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361522 NA NA NA NA NA 0.587 NA 4.4264 1209 21 32432972 32432972 A T intergenic KRTAP19-8,TIAM1 dist=22177;dist=57764 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=790;Name=lod=2163 NA 21q22.11 NA NA NA NA rs2833246 0.36 0.36 0.308 0.352236 0.5736 0.2202 0.3487 0.1649 0.5164 0.59 0.21 0.37 0.16 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343991 NA NA NA NA NA 0.304 NA 4.4264 1209 21 32434300 32434300 T C intergenic KRTAP19-8,TIAM1 dist=23505;dist=56436 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=845;Name=lod=3636 NA 21q22.11 NA NA NA NA rs1888445 0.36 0.36 0.314 0.351637 0.5736 0.2202 0.3487 0.1626 0.5164 0.59 0.21 0.37 0.16 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.042715 2.042715 NA NA NA NA 0.304 NA 4.4264 1209 13 25525481 25525481 G A ncRNA_intronic TPTE2P1 NA NA NA ncRNA_intronic ENSG00000253771 NA NA NA NA NA 13q12.13 NA NA NA NA rs56247049 0.18 0.18 0.15 0.223842 0.2406 0.0853 0.1527 0.2428 0.3742 0.21 0.09 0.18 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060923 NA NA NA NA NA 0.174 NA 4.4260666 1209 19 43349294 43349294 A G ncRNA_exonic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs2074591 0.33 0.33 0.234 0.422724 0.2406 0.4067 0.4092 0.528 0.4939 0.2 0.37 0.32 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102104 NA NA NA NA NA 0.362 NA 4.4260666 1209 17 77923478 77923478 G A intronic TBC1D16 NA NA NA intronic ENSG00000167291 NA NA NA NA NA 17q25.3 NA NA Name=7 NA rs894858 0.24 0.24 0.225 0.257987 0.1938 0.4891 0.1311 0.1241 0.3569 0.2 0.47 0.14 0.11 0.2198 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82725 NA NA 0.160917 0.110075 NA 0.188 NA 4.425483 1209 14 68773298 68773298 C G intronic RAD51B NA NA NA intronic ENSG00000182185 NA NA NA NA NA 14q24.1 NA Name=MEF2A,Pol2,PU.1,EBF,PAX5-C20,NFKB,TBP NA NA rs60593979 NA NA NA 0.441494 0.5746 0.4484 0.598 0.1127 0.6309 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043675 NA NA NA NA NA NA NA 4.4254 1209 19 22235491 22235491 T G intronic ZNF257 NA NA NA intronic ENSG00000197134 NA NA NA NA NA 19p12 NA Name=Pol2 NA NA rs387343 0.56 0.56 0.528 0.498003 0.5746 0.5456 0.6297 0.4592 0.3292 0.59 0.58 0.57 0.48 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304568 NA NA NA NA NA 0.536 NA 4.4254 1209 19 22235577 22235577 C T intronic ZNF257 NA NA NA intronic ENSG00000197134 NA NA NA NA NA 19p12 NA Name=YY1 NA NA rs408312 0.56 0.56 0.53 0.493411 0.5746 0.5456 0.6268 0.4433 0.3292 0.59 0.58 0.57 0.47 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00721 NA NA NA NA NA 0.529 NA 4.4254 1209 7 44081569 44081569 G C ncRNA_intronic FLJ35390 NA NA NA ncRNA_exonic ENSG00000235314 NA NA NA NA NA 7p13 NA NA NA NA rs10254823 0.24 0.24 0.212 0.240016 0.2416 0.1141 0.2767 0.348 0.1963 0.25 0.12 0.28 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802592 NA NA NA NA NA 0.225 NA 4.4250666 1210 16 20328685 20328685 T C exonic GP2 NA synonymous SNV GP2:NM_001007242:exon7:c.A825G:p.Q275Q,GP2:NM_001007241:exon8:c.A834G:p.Q278Q,GP2:NM_001502:exon8:c.A1266G:p.Q422Q,GP2:NM_001007240:exon9:c.A1275G:p.Q425Q exonic ENSG00000169347 NA synonymous SNV ENSG00000169347:ENST00000341642:exon7:c.A825G:p.Q275Q,ENSG00000169347:ENST00000302555:exon8:c.A1266G:p.Q422Q,ENSG00000169347:ENST00000381360:exon8:c.A834G:p.Q278Q,ENSG00000169347:ENST00000381362:exon9:c.A1275G:p.Q425Q NA NA 16p12.3 NA NA NA NA rs1129818 0.24 0.24 0.222 0.238419 0.4364 0.1071 0.3012 0.0522 0.3773 0.43 0.1 0.3 0.06 0.3661 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.437886 NA NA 0.439302 0.126419 NA 0.246 NA 4.4248646 1210 17 25739737 25739737 G A intergenic WSB1,TBC1D3P5 dist=99092;dist=5294 NA NA ncRNA_exonic ENSG00000266356 NA NA NA Score=539;Name=lod=207 NA 17q11.1 NA NA NA NA rs11652073 0.56 0.56 0.566 0.532548 0.5755 0.6776 0.464 0.4448 0.5061 0.58 0.67 0.47 0.47 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408636 NA NA NA NA NA 0.536 NA 4.4245 1210 18 8413903 8413903 G A intergenic PTPRM,RAB12 dist=7044;dist=195540 NA NA ncRNA_exonic ENSG00000266613 NA NA NA Score=813;Name=lod=2697 NA 18p11.23 NA NA NA NA rs602212 0.51 0.51 0.515 0.483427 0.5755 0.4464 0.5058 0.466 0.4346 0.58 0.44 0.54 0.47 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003739 NA NA NA NA NA 0.616 NA 4.4245 1210 6 30229583 30229583 G C ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2023476 0.32 0.32 0.265 0.373802 0.2425 0.5308 0.4308 0.2231 0.5102 0.22 0.48 0.39 0.22 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627684 NA NA NA NA NA 0.341 NA 4.4241666 1210 10 99358511 99358511 A G intronic HOGA1 NA NA NA intronic ENSG00000155252,ENSG00000241935,ENSG00000249967 NA NA NA NA NA 10q24.2 NA NA Name=6 NA rs11817730 0.16 0.16 0.149 0.173323 0.1879 0.125 0.2017 0.1914 0.1636 0.19 0.12 0.16 0.19 0.1877 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584054 NA NA 0.200349 0.206764 ID=COSN163726;OCCURENCE=1(breast) 0.08 NA 4.424051 1210 19 39233146 39233146 A G exonic CAPN12 NA synonymous SNV CAPN12:NM_144691:exon3:c.T330C:p.A110A exonic ENSG00000182472 NA synonymous SNV ENSG00000182472:ENST00000328867:exon3:c.T330C:p.A110A,ENSG00000182472:ENST00000598684:exon3:c.T309C:p.A103A Score=516;Name=lod=167 NA 19q13.2 NA NA NA NA rs936524 0.67 0.67 0.663 0.671126 0.7694 0.623 0.6196 0.5386 0.8354 0.77 0.64 0.66 0.56 0.7278 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276571 1.276571 NA 0.745698 0.543577 NA 0.71 NA 4.4237686 1210 1 118242864 118242864 A G intergenic FAM46C,GDAP2 dist=71853;dist=163243 NA NA ncRNA_exonic ENSG00000270719 NA NA NA NA NA 1p12 NA Name=CEBPB NA NA rs1891556 0.57 0.57 0.55 0.563698 0.5765 0.5813 0.6585 0.4826 0.5746 0.56 0.6 0.64 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005391 NA NA NA NA NA 0.384 NA 4.4235 1210 2 242662761 242662761 T C intronic ING5 NA NA NA intronic ENSG00000168395 NA NA NA NA NA 2q37.3 NA Name=KAP1 NA NA rs7572153 0.7 0.7 0.709 0.750799 0.5765 0.8125 0.5447 0.8812 0.8364 0.57 0.82 0.57 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.583956 NA NA NA NA NA 0.725 NA 4.4235 1210 7 83740015 83740015 T C intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA Name=9 NA rs1990045 0.51 0.51 0.5 0.479633 0.5765 0.6855 0.5591 0.236 0.4407 0.56 0.68 0.54 0.24 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.117749 NA NA NA NA NA 0.355 NA 4.4235 1210 10 70962381 70962381 C G intronic SUPV3L1 NA NA NA intronic ENSG00000156502 NA NA NA NA NA 10q22.1 NA Name=USF2,CEBPB,EBF,NFKB,p300_(N-15) NA NA rs2279928 0.43 0.43 0.42 0.390775 0.5765 0.3849 0.4481 0.1505 0.4898 0.57 0.44 0.48 0.18 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365052 NA NA NA NA NA 0.457 NA 4.4235 1210 19 53707289 53707289 C T intergenic ZNF665,ZNF818P dist=10670;dist=8912 NA NA ncRNA_exonic ENSG00000269051 NA NA NA Score=358;Name=lod=38 NA 19q13.42 NA NA NA NA rs7249771 0.59 0.59 0.586 0.605232 0.5765 0.7817 0.5922 0.3714 0.7781 0.57 0.77 0.56 0.43 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147687 NA NA NA NA NA 0.594 NA 4.4235 1210 10 96998458 96998458 C T intronic PDLIM1 NA NA NA intronic ENSG00000107438 NA NA NA Score=284;Name=lod=19 NA 10q23.33 NA NA NA NA rs2901832 0.12 0.12 0.104 0.101038 0.2147 0.0188 0.183 0.0454 0.0859 0.2 0.02 0.2 0.05 0.1579 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.153296 2.153296 NA 0.203953 0.058557 NA 0.123 NA 4.423447 1210 20 61980991 61980991 T C intronic CHRNA4 NA NA NA intronic ENSG00000101204 NA NA NA NA NA 20q13.33 NA NA NA NA rs3827020 0.25 0.25 0.196 0.244609 0.1899 0.4841 0.2334 0.1717 0.1605 0.19 0.44 0.21 0.15 0.2114 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512984 NA NA 0.17543 0.169542 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079315.1;CLNDSDB=.;CLNDSDBID=. 4.42327 1210 19 36351768 36351768 G A intronic KIRREL2 NA NA NA intronic ENSG00000126259 NA NA NA NA NA 19q13.12 NA Name=USF-1 NA NA rs60849332 0.11 0.11 0.113 0.129393 0.2058 0.002 0.1196 0.0885 0.2444 0.2 NA 0.13 0.09 0.1771 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335238 NA NA 0.193978 0.109282 NA 0.051 NA 4.423122 1210 5 5200281 5200281 C T exonic ADAMTS16 NA synonymous SNV ADAMTS16:NM_139056:exon9:c.C1350T:p.C450C exonic ENSG00000145536 NA synonymous SNV ENSG00000145536:ENST00000274181:exon9:c.C1350T:p.C450C,ENSG00000145536:ENST00000511368:exon9:c.C1350T:p.C450C Score=391;Name=lod=52 NA 5p15.32 NA NA NA NA rs6555335 0.73 0.73 0.711 0.72524 0.7396 0.8026 0.8314 0.5651 0.772 0.74 0.84 0.79 0.57 0.7563 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670573 NA NA 0.747719 0.614541 NA 0.833 NA 4.4230476 1210 4 47887536 47887536 T C exonic NFXL1 NA synonymous SNV NFXL1:NM_152995:exon14:c.A1803G:p.A601A exonic ENSG00000170448 NA synonymous SNV ENSG00000170448:ENST00000329043:exon14:c.A1803G:p.A601A,ENSG00000170448:ENST00000381538:exon14:c.A1803G:p.A601A,ENSG00000170448:ENST00000464756:exon14:c.A1803G:p.A601A,ENSG00000170448:ENST00000507489:exon14:c.A1803G:p.A601A Score=611;Name=lod=404 NA 4p12 NA NA NA NA rs2053404 0.73 0.73 0.708 0.716853 0.7505 0.6875 0.7478 0.6558 0.773 0.77 0.72 0.75 0.65 0.7441 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.175691 NA NA 0.749186 0.682932 NA 0.768 NA 4.4228806 1210 6 36185681 36185681 G C intronic BRPF3 NA NA NA intronic ENSG00000096070 NA NA NA Score=580;Name=lod=304 NA 6p21.31 NA NA NA NA rs12525283 0.11 0.11 0.09 0.13099 0.1849 0.0536 0.1844 0.0136 0.2761 0.19 0.04 0.17 0.02 0.1875 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.496058 1.496058 NA 0.205 0.046754 NA 0.101 NA 4.4226 1210 15 20456740 20456740 A G intergenic NONE,CHEK2P2 dist=NONE;dist=31257 NA NA ncRNA_exonic ENSG00000258628 NA NA NA Score=574;Name=lod=287 NA 15q11.1 NA NA NA NA rs2954579 NA NA 0.514 0.558307 0.5775 0.5496 0.5447 0.5492 0.5695 NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186619 NA 1 NA NA NA 0.094 NA 4.4225 1210 1 154744852 154744852 A G exonic KCNN3 NA synonymous SNV KCNN3:NM_001204087:exon3:c.T1047C:p.N349N,KCNN3:NM_002249:exon3:c.T1047C:p.N349N,KCNN3:NM_170782:exon3:c.T132C:p.N44N exonic ENSG00000143603 NA synonymous SNV ENSG00000143603:ENST00000271915:exon3:c.T1047C:p.N349N,ENSG00000143603:ENST00000358505:exon3:c.T108C:p.N36N,ENSG00000143603:ENST00000361147:exon3:c.T132C:p.N44N Score=407;Name=lod=60 NA 1q21.3 NA NA NA NA rs1131820 0.79 0.79 0.762 0.779153 0.7445 0.9831 0.8401 0.593 0.8129 0.74 0.99 0.81 0.61 0.7616 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557229 NA NA 0.738256 0.64049 NA 0.63 NA 4.4223106 1210 15 41813279 41813279 C T exonic RPAP1 NA synonymous SNV RPAP1:NM_015540:exon22:c.G3105A:p.R1035R exonic ENSG00000103932 NA synonymous SNV ENSG00000103932:ENST00000304330:exon22:c.G3105A:p.R1035R,ENSG00000103932:ENST00000562303:exon22:c.G3105A:p.R1035R NA NA 15q15.1 NA NA NA NA rs3743031 0.31 0.31 0.294 0.298522 0.4324 0.2758 0.3285 0.1256 0.3967 0.43 0.31 0.33 0.13 0.3836 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.587815 NA NA 0.428472 0.180209 ID=COSM433825;OCCURENCE=1(breast) 0.275 NA 4.4221946 1210 7 29690658 29690658 A C ncRNA_exonic LOC646762 NA NA NA ncRNA_intronic ENSG00000225264,ENSG00000227855 NA NA NA NA NA 7p14.3 NA NA NA NA rs1728537 0.23 0.23 0.218 0.252396 0.2445 0.0694 0.2968 0.4107 0.2035 0.23 0.06 0.27 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604627 NA NA NA NA NA 0.399 NA 4.4221666 1210 19 55222100 55222100 C T ncRNA_exonic LILRP2 NA NA NA ncRNA_exonic ENSG00000170858,ENSG00000240258 NA NA NA NA NA 19q13.42 NA NA NA NA rs7245810 0.21 0.21 0.224 0.288738 0.2445 0.0764 0.2147 0.5318 0.2771 0.19 0.09 0.24 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621007 NA NA NA NA NA NA NA 4.4221666 1210 19 55222101 55222101 C T ncRNA_exonic LILRP2 NA NA NA ncRNA_exonic ENSG00000170858,ENSG00000240258 NA NA NA NA NA 19q13.42 NA NA NA NA rs34539630 0.21 0.21 0.227 0.288738 0.2445 0.0764 0.2147 0.5318 0.2771 0.19 0.09 0.24 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729734 NA NA NA NA NA NA NA 4.4221666 1210 19 50796905 50796905 G A exonic MYH14 NA synonymous SNV MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S exonic ENSG00000105357 NA synonymous SNV ENSG00000105357:ENST00000596571:exon36:c.G5307A:p.S1769S,ENSG00000105357:ENST00000262269:exon38:c.G5430A:p.S1810S,ENSG00000105357:ENST00000376970:exon38:c.G5406A:p.S1802S,ENSG00000105357:ENST00000425460:exon38:c.G5331A:p.S1777S,ENSG00000105357:ENST00000598205:exon38:c.G5331A:p.S1777S,ENSG00000105357:ENST00000440075:exon39:c.G5430A:p.S1810S,ENSG00000105357:ENST00000601313:exon39:c.G5430A:p.S1810S NA NA 19q13.33 NA NA NA NA rs3745509 0.71 0.71 0.677 0.682109 0.7545 0.9276 0.7709 0.3306 0.7669 0.76 0.92 0.75 0.35 0.748 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543998 NA NA 0.742202 0.364507 NA 0.572 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037051.1;CLNDSDB=.;CLNDSDBID=. 4.4219646 1210 1 8395441 8395441 T C intronic SLC45A1 NA NA NA intronic ENSG00000162426 NA NA NA NA Name=Breast cancer 1p36.23 NA NA NA NA rs2305016 0.42 0.42 0.407 0.378195 0.5785 0.2857 0.3977 0.2761 0.3916 0.59 0.29 0.43 0.29 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719914 NA NA NA NA NA 0.493 NA 4.4215 1210 1 81564282 81564282 A T intergenic NONE,LPHN2 dist=NONE;dist=701800 NA NA ncRNA_exonic ENSG00000229752 NA NA NA Score=756;Name=lod=1575 NA 1p31.1 NA NA NA NA rs545095 0.6 0.6 0.609 0.636981 0.5785 0.4653 0.6282 0.8116 0.6442 0.58 0.46 0.6 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052655 NA NA NA NA NA 0.804 NA 4.4215 1210 8 121292407 121292407 G A intronic COL14A1 NA NA NA intronic ENSG00000187955 NA NA NA NA NA 8q24.12 NA Name=FOXA1_(C-20) NA NA rs1869831 0.64 0.64 0.65 0.653954 0.5785 0.5794 0.598 0.8797 0.5429 0.57 0.59 0.62 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927421 NA NA NA NA NA 0.58 NA 4.4215 1210 22 36541725 36541725 G T intronic APOL3 NA NA NA intronic ENSG00000128284 NA NA NA NA NA 22q12.3 NA NA Name=3 NA rs1807672 0.46 0.46 0.494 0.472644 0.5785 0.1607 0.3718 0.7065 0.4407 0.59 0.14 0.4 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436868 NA NA NA NA NA 0.645 NA 4.4215 1210 19 52004795 52004795 G T exonic SIGLEC12 NA synonymous SNV SIGLEC12:NM_053003:exon1:c.C193A:p.R65R exonic ENSG00000254521 NA synonymous SNV ENSG00000254521:ENST00000291707:exon1:c.C193A:p.R65R,ENSG00000254521:ENST00000596742:exon1:c.C193A:p.R65R NA NA 19q13.41 NA NA NA NA rs61742108 NA NA NA 0.569688 0.6322 0.369 0.7248 0.5522 0.6258 NA NA NA NA 0.6131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056493 NA NA NA NA NA NA NA 4.4213666 1210 1 197108427 197108427 A G intronic ASPM NA NA NA ncRNA_exonic ENSG00000235748 NA NA NA Score=666;Name=lod=676 NA 1q31.3 NA NA NA NA rs1332662 0.81 0.81 0.769 0.771366 0.9125 1 0.8761 0.3389 0.9008 0.92 1 0.89 0.36 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3319 NA NA NA NA NA 0.688 NA 4.4208333 1210 19 5277800 5277800 C A intronic PTPRS NA NA NA ncRNA_exonic ENSG00000239524 NA NA NA Score=722;Name=lod=1144 NA 19p13.3 NA NA NA NA rs7250168 0.89 0.89 0.894 0.88139 0.9125 0.8294 0.9078 0.9418 0.8027 0.9 0.79 0.91 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.700062 NA NA NA NA NA 0.891 NA 4.4208333 1210 17 78071052 78071052 T C exonic CCDC40 NA synonymous SNV CCDC40:NM_017950:exon19:c.T3030C:p.D1010D exonic ENSG00000141519 NA synonymous SNV ENSG00000141519:ENST00000397545:exon19:c.T3030C:p.D1010D Score=243;Name=lod=13 NA 17q25.3 NA NA NA NA rs12952612 0.69 0.69 0.699 0.714257 0.7614 0.6567 0.5663 0.7088 0.8374 0.76 0.67 0.57 0.7 0.7331 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.288598 NA NA 0.75144 0.70786 ID=COSM437721;OCCURENCE=1(breast) 0.71 NA 4.4207266 1210 6 64190067 64190067 C A intergenic LGSN,PTP4A1 dist=160185;dist=91853 NA NA ncRNA_exonic ENSG00000225121 NA NA NA Score=514;Name=lod=164 NA 6q12 NA NA NA NA rs9443931 0.47 0.47 0.446 0.429113 0.5795 0.5476 0.4193 0.1868 0.4867 0.56 0.55 0.46 0.23 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.200377 2.200377 NA NA NA NA 0.493 NA 4.4205 1210 7 138441124 138441124 A G intronic ATP6V0A4 NA NA NA intronic ENSG00000105929 NA NA NA NA NA 7q34 NA NA Name=20 NA rs296910 0.64 0.64 0.634 0.640375 0.5795 0.5625 0.6239 0.8548 0.5051 0.59 0.55 0.59 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801997 NA NA NA NA NA 0.543 NA 4.4205 1210 8 6756521 6756521 T C intergenic DEFB1,DEFA6 dist=20992;dist=25695 NA NA ncRNA_exonic ENSG00000250752 NA NA NA Score=659;Name=lod=635 NA 8p23.1 NA NA NA NA rs2980959 0.44 0.44 0.425 0.394569 0.5795 0.4921 0.4337 0.1528 0.4029 0.57 0.51 0.45 0.15 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469721 NA NA NA NA NA 0.333 NA 4.4205 1210 8 6756577 6756577 A G intergenic DEFB1,DEFA6 dist=21048;dist=25639 NA NA ncRNA_exonic ENSG00000250752 NA NA NA Score=659;Name=lod=635 NA 8p23.1 NA NA NA NA rs13275881 0.44 0.44 0.303 0.39377 0.5795 0.4911 0.4337 0.1505 0.4029 0.57 0.51 0.45 0.15 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630502 NA NA NA NA NA 0.348 NA 4.4205 1210 8 6756582 6756582 G C intergenic DEFB1,DEFA6 dist=21053;dist=25634 NA NA ncRNA_exonic ENSG00000250752 NA NA NA Score=659;Name=lod=635 NA 8p23.1 NA NA NA NA rs13272703 0.44 0.44 0.32 0.39377 0.5795 0.4911 0.4337 0.1505 0.4029 0.57 0.51 0.45 0.15 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.986464 NA NA NA NA NA 0.355 NA 4.4205 1210 8 6756770 6756770 T C intergenic DEFB1,DEFA6 dist=21241;dist=25446 NA NA ncRNA_exonic ENSG00000250752 NA NA NA NA NA 8p23.1 NA Name=CTCF NA NA rs13255719 0.44 0.44 0.512 0.395367 0.5795 0.4921 0.4366 0.1536 0.4039 0.57 0.51 0.45 0.15 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068076 NA NA NA NA NA 0.326 NA 4.4205 1210 14 20678002 20678002 T C intergenic OR11G2,OR11H6 dist=11470;dist=13867 NA NA ncRNA_exonic ENSG00000258625 NA NA NA NA NA 14q11.2 Score=760;Name=V$PPARA_01 NA NA NA rs8004680 0.58 0.58 0.557 0.595048 0.5795 0.5536 0.5432 0.6293 0.6442 0.59 0.55 0.52 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643905 NA NA NA NA NA 0.565 NA 4.4205 1210 11 122665437 122665437 A G exonic UBASH3B NA synonymous SNV UBASH3B:NM_032873:exon7:c.A1008G:p.S336S exonic ENSG00000154127 NA synonymous SNV ENSG00000154127:ENST00000284273:exon7:c.A1008G:p.S336S NA NA 11q24.1 NA NA NA NA rs872414 0.52 0.52 0.512 0.5623 0.3917 0.5615 0.5317 0.7602 0.4928 0.37 0.52 0.5 0.74 0.4537 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033313 NA NA 0.400791 0.698683 NA 0.529 NA 4.4204756 1210 13 19999968 19999968 T C intronic TPTE2 NA NA NA exonic ENSG00000132958 NA synonymous SNV ENSG00000132958:ENST00000462409:exon14:c.A915G:p.E305E NA NA 13q12.11 NA NA NA NA rs59951789 0.16 0.16 0.05 NA NA NA NA NA NA 0.14 0.26 0.25 0.03 0.2476 0.26 . . . . . . . . 1.000 P . . . . -1.006 T 0.000 T . -0.381 2.208 -0.809 -0.289 0.217 . -0.381485 NA NA 0.165499 0.047237 NA 0.043 NA 4.4202343 1210 6 30228879 30228879 C T ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2523749 0.32 0.32 0.239 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.21 0.45 0.38 0.28 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164111 NA NA NA NA NA NA NA 4.4201666 1210 6 30228881 30228881 T C ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2523748 0.32 0.32 0.256 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.21 0.45 0.38 0.28 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924503 NA NA NA NA NA NA NA 4.4201666 1210 6 30229990 30229990 G A ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2516702 0.34 0.34 0.296 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556815 NA NA NA NA NA 0.384 NA 4.4201666 1210 5 99284934 99284934 G C intergenic LOC100289230,LOC100133050 dist=1018221;dist=430275 NA NA ncRNA_exonic ENSG00000250391 NA NA NA Score=701;Name=lod=941 NA 5q21.1 NA NA NA NA rs899053 0.5 0.5 0.52 0.474641 0.5805 0.3403 0.4395 0.556 0.4192 0.58 0.37 0.48 0.56 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.75392 NA NA NA NA NA 0.688 NA 4.4195 1210 6 64190278 64190278 A T intergenic LGSN,PTP4A1 dist=160396;dist=91642 NA NA ncRNA_exonic ENSG00000225121 NA NA NA Score=629;Name=lod=482 NA 6q12 NA NA NA NA rs2622276 0.53 0.53 0.544 0.513379 0.5805 0.5476 0.4409 0.4939 0.4867 0.56 0.55 0.48 0.49 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129262 NA NA NA NA NA 0.623 NA 4.4195 1210 20 34457513 34457513 G A intronic PHF20 NA NA NA intronic ENSG00000025293 NA NA NA NA NA 20q11.23 NA NA Name=9 NA rs6121073 0.23 0.23 0.25 0.288139 0.1799 0.1845 0.1801 0.4281 0.3937 0.18 0.16 0.22 0.41 0.2199 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138108 NA NA 0.180814 0.388561 NA 0.217 NA 4.419386 1210 22 23077271 23077271 A G intergenic GGTLC2,MIR650 dist=86903;dist=87999 NA NA exonic ENSG00000211664 NA synonymous SNV ENSG00000211664:ENST00000390310:exon2:c.A48G:p.G16G NA NA 22q11.22 NA NA NA NA rs392011 0.01 0.01 0.012 0.00958466 0.0298 0.002 0.013 NA 0.0072 0.03 0.0035 0.02 NA 0.024 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284475 NA NA 0.02766 0.006757 NA 0.007 NA 4.41854 1210 7 56356744 56356744 G T intergenic NUPR1L,LOC650226 dist=172654;dist=134653 NA NA ncRNA_exonic ENSG00000223559 NA NA NA Score=797;Name=lod=2309 NA 7p11.2 NA NA NA NA rs3813510 0.42 0.42 0.382 0.420527 0.5815 0.4702 0.4827 0.1241 0.5603 0.56 0.48 0.49 0.11 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139598 NA NA NA NA NA 0.406 NA 4.4185 1210 7 56357799 56357799 A G intergenic NUPR1L,LOC650226 dist=173709;dist=133598 NA NA ncRNA_exonic ENSG00000223559 NA NA NA Score=721;Name=lod=1135 NA 7p11.2 NA NA NA NA rs11770278 0.43 0.43 0.371 0.422724 0.5815 0.4712 0.4827 0.1316 0.5603 0.56 0.48 0.49 0.12 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403029 NA NA NA NA NA 0.413 NA 4.4185 1210 16 2111779 2111779 T C intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs17135764 0.59 0.59 0.551 0.610623 0.5815 0.8155 0.6455 0.4092 0.6769 0.58 0.79 0.59 0.37 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142614 NA NA NA NA NA 0.522 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000042398.2;CLNDSDB=.;CLNDSDBID=. 4.4185 1210 17 26034262 26034262 C T intergenic LGALS9,NOS2 dist=57676;dist=49530 NA NA ncRNA_exonic ENSG00000265833 NA NA NA Score=549;Name=lod=227 NA 17q11.2 NA NA NA NA rs9904749 0.69 0.69 0.707 0.726238 0.5815 0.6776 0.6412 0.8336 0.8405 0.57 0.7 0.66 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.348635 1.348635 NA NA NA NA 0.848 NA 4.4185 1210 1 183187494 183187494 T C intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA NA NA 1q25.3 NA NA Name=19 NA rs10911285 0.29 0.29 0.28 0.313898 0.1571 0.3333 0.3184 0.4024 0.3323 0.17 0.34 0.29 0.41 0.2481 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324934 NA NA 0.176669 0.378974 NA 0.232 NA 4.418131 1210 1 47118189 47118189 G T intronic ATPAF1 NA NA NA intronic ENSG00000123472 NA NA NA NA NA 1p33 NA NA Name=3 NA rs620431 0.54 0.54 0.519 0.538938 0.3141 0.7996 0.4654 0.6467 0.408 0.3 0.78 0.47 0.68 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224854 NA NA 0.268385 0.57659 NA 0.442 NA 4.417515 1210 2 133425912 133425912 C T intronic LYPD1 NA NA NA intronic ENSG00000150551 NA NA NA NA NA 2q21.2 NA NA Name=48 NA rs2709533 0.54 0.54 0.519 0.493211 0.5825 0.6528 0.4957 0.3207 0.4683 0.6 0.65 0.54 0.3 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364641 NA NA NA NA NA 0.558 NA 4.4175 1210 18 9678977 9678977 C T intergenic PPP4R1,RAB31 dist=64372;dist=29251 NA NA ncRNA_exonic ENSG00000264644 NA NA NA Score=642;Name=lod=540 NA 18p11.22 NA NA NA NA rs4121713 0.48 0.48 0.505 0.452676 0.5825 0.3641 0.3948 0.525 0.3538 0.58 0.35 0.42 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099106 NA NA NA NA NA 0.616 NA 4.4175 1210 18 9679232 9679232 G A intergenic PPP4R1,RAB31 dist=64627;dist=28996 NA NA ncRNA_exonic ENSG00000264644 NA NA NA Score=589;Name=lod=329 NA 18p11.22 NA NA NA NA rs11081491 0.47 0.47 0.498 0.450879 0.5825 0.3542 0.3963 0.525 0.3538 0.58 0.34 0.42 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211109 NA NA NA NA NA 0.616 NA 4.4175 1210 3 186370454 186370454 C T UTR3 FETUB NM_014375:c.*34C>T NA NA ncRNA_UTR3 ENSG00000090512 NA NA NA NA NA 3q27.3 NA NA NA NA rs150042143 0.02 0.02 0.009 0.0121805 0.0278 NA 0.0303 0.0015 0.0102 0.02 NA 0.04 0.01 0.024 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584834 NA NA 0.030892 0.005692 NA 0.029 NA 4.417308 1210 10 12123667 12123667 A C intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA NA Name=3 NA rs1722445 0.28 0.28 0.258 0.273762 0.1829 0.2976 0.3098 0.4342 0.1002 0.19 0.3 0.28 0.38 0.2201 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260621 NA NA 0.179767 0.38266 NA 0.246 NA 4.417233 1210 3 47059323 47059323 C T intronic SETD2 NA NA NA intronic ENSG00000181555 NA NA NA NA NA 3p21.31 NA NA Name=12 NA rs2385867 0.56 0.56 0.535 0.551917 0.5835 0.5387 0.549 0.5257 0.5706 0.58 0.53 0.56 0.54 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747117 NA NA NA NA ID=COSN166868;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.609 NA 4.4165 1210 15 20446043 20446043 T A intergenic NONE,CHEK2P2 dist=NONE;dist=41954 NA NA ncRNA_exonic ENSG00000258628 NA NA NA NA NA 15q11.1 NA Name=ELF1_(SC-631) NA NA rs1823751 NA NA 0.387 0.592851 0.5835 0.627 0.5504 0.6135 0.5695 NA NA NA NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382767 NA 0.95 NA NA NA 0.428 NA 4.4165 1210 19 33700445 33700445 C T intronic SLC7A10 NA NA NA intronic ENSG00000130876 NA NA NA NA NA 19q13.11 NA Name=CTCF NA NA rs2303093 0.33 0.33 0.296 0.284944 0.5835 0.129 0.2983 0.1467 0.316 0.58 0.11 0.35 0.18 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221809 NA NA NA NA ID=COSN165784;OCCURENCE=1(NS) 0.391 NA 4.4165 1210 2 228119461 228119461 G A ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs35467545 0.1 0.1 0.071 0.102236 0.0736 0.1637 0.1787 0.028 0.1145 0.07 0.15 0.16 0.03 0.0939 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35096 NA NA 0.082948 0.03292 NA 0.051 NA 4.4162186 1210 15 43021563 43021563 G A intronic CDAN1 NA NA NA intronic ENSG00000140326 NA NA NA Score=484;Name=lod=124 NA 15q15.2 NA NA NA NA rs12905385 0.19 0.19 0.195 0.236222 0.1849 0.0387 0.1239 0.4153 0.3303 0.2 0.05 0.14 0.35 0.209 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280108 NA NA 0.190161 0.369723 NA 0.225 NA 4.415939 1210 6 29976262 29976262 C T ncRNA_intronic HLA-J,ZNRD1-AS1 NA NA NA ncRNA_intronic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs9261110 0.18 0.18 0.183 0.191294 0.0954 0.1905 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 0.1554 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35776 NA NA NA NA NA 0.167 NA 4.4158666 1210 2 89416764 89416764 A T intergenic MIR4436A,NONE dist=304796;dist=NONE NA NA downstream ENSG00000240382 NA NA NA Score=289;Name=lod=20 NA 2p11.2 NA NA NA NA rs112835170 0.05 0.05 0.035 0.071885 0.0845 0.0069 0.0576 0.0915 0.1094 0.07 0.01 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.903836 2.903836 NA NA NA NA NA NA 4.4155 1210 5 20304486 20304486 A T intergenic CDH18,GUSBP1 dist=316133;dist=1155103 NA NA ncRNA_exonic ENSG00000214132 NA NA NA Score=689;Name=lod=838 NA 5p14.3 NA NA NA NA rs11747601 0.47 0.47 0.349 0.339257 0.5845 0.2153 0.4654 0.1233 0.4172 0.67 0.36 0.58 0.22 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720479 NA NA NA NA NA 0.428 NA 4.4155 1210 1 55134487 55134487 G A ncRNA_intronic HEATR8-TTC4 NA NA NA intronic ENSG00000184313,ENSG00000271723 NA NA NA NA NA 1p32.3 NA Name=CTCF_(SC-5916),CTCF NA NA rs478513 0.35 0.35 0.331 0.388379 0.2783 0.379 0.4784 0.3124 0.5501 0.28 0.38 0.45 0.36 0.3588 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536262 NA NA 0.281114 0.306888 NA 0.428 NA 4.4151193 1210 3 112710242 112710242 T C intronic GTPBP8 NA NA NA intronic ENSG00000163607 NA NA NA NA NA 3q13.2 NA Name=TBP,GTF2F1_(RAP-74),CHD2_(N-1250),TCF12,PAX5-N19,PAX5-C20,Oct-2,ELF1_(SC-631),AP-2gamma,ZEB1_(SC-25388),HA-E2F1,Pol2-4H8,Pol2,Ini1,POU2F2 NA NA rs2248029 0.15 0.15 0.12 0.14377 0.2913 0.0784 0.1916 0.0318 0.1769 0.29 0.05 0.17 0.04 0.2936 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241227 NA NA NA NA NA 0.13 NA 4.4151 1211 7 159024638 159024638 G A intergenic VIPR2,NONE dist=86989;dist=NONE NA NA ncRNA_intronic ENSG00000229435 NA NA NA Score=720;Name=lod=1127 NA 7q36.3 NA NA NA NA rs414322 0.61 0.61 0.58 0.598442 0.5855 0.7242 0.6657 0.4705 0.6074 0.59 0.73 0.65 0.49 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.483059 1.483059 NA NA NA NA 0.652 NA 4.4145 1211 13 65884191 65884191 T C intergenic OR7E156P,PCDH9 dist=1567490;dist=992775 NA NA ncRNA_exonic ENSG00000214266 NA NA NA Score=597;Name=lod=357 NA 13q21.32 NA NA NA NA rs892261 0.64 0.64 0.608 0.649361 0.5855 0.7728 0.5749 0.6407 0.6524 0.58 0.74 0.6 0.63 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318903 1.318903 NA NA NA NA 0.667 NA 4.4145 1211 17 70846027 70846027 G A intronic SLC39A11 NA NA NA intronic ENSG00000133195 NA NA NA Score=259;Name=lod=15 NA 17q24.3 NA NA NA NA rs4998297 0.46 0.46 0.439 0.455272 0.5855 0.3373 0.5101 0.413 0.4611 0.58 0.33 0.48 0.43 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.131905 2.131905 NA NA NA NA 0.558 NA 4.4145 1211 19 49649051 49649051 T G intronic PPFIA3 NA NA NA intronic ENSG00000177380 NA NA NA NA NA 19q13.33 NA Name=JunD,c-Jun NA NA rs3764625 0.58 0.58 0.569 0.59365 0.5855 0.245 0.5879 0.9017 0.5491 0.59 0.24 0.65 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800732 NA NA NA NA NA 0.63 NA 4.4145 1211 4 10446906 10446906 A G exonic ZNF518B NA synonymous SNV ZNF518B:NM_053042:exon3:c.T1047C:p.D349D exonic ENSG00000178163 NA synonymous SNV ENSG00000178163:ENST00000326756:exon3:c.T1047C:p.D349D NA NA 4p16.1 Score=851;Name=V$PBX1_02 NA NA NA rs10016022 0.79 0.79 0.801 0.801518 0.7575 0.7946 0.7248 0.8933 0.7843 0.76 0.79 0.77 0.88 0.7507 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961409 NA NA 0.74407 0.863595 NA 0.783 NA 4.4143966 1211 4 119115366 119115366 A G intronic NDST3 NA NA NA ncRNA_exonic ENSG00000251463 NA NA NA Score=454;Name=lod=93 NA 4q26 NA NA NA NA rs12505156 0.8 0.8 0.759 0.811901 0.9195 0.7976 0.9308 0.5688 0.9601 0.92 0.78 0.93 0.54 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121124 NA NA NA NA NA 0.754 NA 4.4138333 1211 3 52491836 52491836 G A intronic NISCH NA NA NA intronic ENSG00000010322 NA NA NA NA NA 3p21.1 NA NA Name=3 NA rs12629472 0.17 0.17 0.139 0.163938 0.2018 0.2956 0.1196 0.0174 0.2188 0.21 0.26 0.14 0.02 0.1921 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575924 NA NA 0.192791 0.046527 NA 0.21 NA 4.413309 1211 19 4475362 4475362 T G intronic HDGFRP2 NA NA NA intronic ENSG00000167674 NA NA NA NA NA 19p13.3 Score=709;Name=V$BRACH_01 NA NA NA rs2288932 0.16 0.16 0.162 0.176118 0.2147 0.0883 0.1499 0.1589 0.2689 0.22 0.09 0.14 0.15 0.1784 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.059872 NA NA 0.193764 0.16606 NA 0.188 NA 4.413136 1211 4 6611813 6611813 T C intronic MAN2B2 NA NA NA intronic ENSG00000013288 NA NA NA NA NA 4p16.1 NA Name=CTCF NA NA rs4689487 0.23 0.23 0.233 0.238219 0.1879 0.1438 0.2896 0.3601 0.1861 0.18 0.15 0.29 0.34 0.2076 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684316 NA NA 0.191395 0.333636 NA 0.275 NA 4.413105 1211 13 47469940 47469940 G A exonic HTR2A NA synonymous SNV HTR2A:NM_000621:exon2:c.C102T:p.S34S exonic ENSG00000102468 NA synonymous SNV ENSG00000102468:ENST00000378688:exon1:c.C102T:p.S34S,ENSG00000102468:ENST00000542664:exon2:c.C102T:p.S34S NA NA 13q14.2 NA NA NA NA rs6313 0.43 0.43 0.413 0.441294 0.4364 0.5883 0.3545 0.3926 0.4223 0.44 0.51 0.39 0.35 0.4071 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.835568 NA NA 0.410116 0.382206 NA 0.478 NA 4.4130506 1211 22 39477123 39477123 T C exonic APOBEC3G NA synonymous SNV APOBEC3G:NM_021822:exon3:c.T357C:p.F119F exonic ENSG00000239713 NA synonymous SNV ENSG00000239713:ENST00000407997:exon3:c.T357C:p.F119F,ENSG00000239713:ENST00000452957:exon3:c.T357C:p.F119F NA NA 22q13.1 NA NA NA NA rs5757465 0.3 0.3 0.28 0.284545 0.4473 0.2242 0.3977 0.0287 0.4448 0.44 0.24 0.45 0.04 0.3717 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385783 NA NA 0.434767 0.088743 ID=COSM149298;OCCURENCE=1(stomach) 0.188 NA 4.4128996 1211 15 65041622 65041622 C A intronic RBPMS2 NA NA NA intronic ENSG00000166831 NA NA NA Score=412;Name=lod=63 NA 15q22.31 NA Name=STAT3 Name=73 NA rs6494493 0.78 0.78 0.743 0.701677 0.8917 0.9563 0.9121 0.3351 0.59 0.9 0.96 0.89 0.32 0.8116 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382902 NA NA 0.88381 0.41871 NA 0.667 NA 4.41289 1211 19 40318087 40318087 G A intronic DYRK1B NA NA NA intronic ENSG00000105204 NA NA NA Score=259;Name=lod=15 NA 19q13.2 NA NA NA NA rs56110449 0.19 0.19 NA 0.229233 0.3002 0.124 0.2867 0.1415 0.3425 0.26 0.1 0.22 0.14 0.2865 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19806 NA NA 0.000581 0 NA NA NA 4.412719 1211 1 2452569 2452569 T C exonic PANK4 NA synonymous SNV PANK4:NM_018216:exon3:c.A393G:p.K131K exonic ENSG00000157881 NA synonymous SNV ENSG00000157881:ENST00000378466:exon3:c.A393G:p.K131K Score=473;Name=lod=112 NA 1p36.32 NA NA NA NA rs2985862 0.84 0.84 0.834 0.846046 0.7316 0.9563 0.8084 0.91 0.7904 0.72 0.98 0.8 0.91 0.7806 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.489176 1.489176 NA 0.742209 0.898774 NA 0.696 NA 4.4122576 1211 4 119615544 119615544 T G intronic METTL14 NA NA NA intronic ENSG00000145388 NA NA NA NA NA 4q26 Score=901;Name=V$CREBP1CJUN_01 NA NA NA rs57581623 0.15 0.15 0.139 0.161542 0.2167 0.1409 0.1326 0.1089 0.2178 0.22 0.12 0.15 0.08 0.1727 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988333 NA NA 0.198464 0.108538 NA 0.138 NA 4.412136 1211 6 76624741 76624741 C T UTR3 MYO6 NM_004999:c.*12C>T NA NA UTR3 ENSG00000196586 ENST00000369981:c.*12C>T,ENST00000369985:c.*12C>T,ENST00000369977:c.*12C>T,ENST00000369975:c.*12C>T NA NA NA NA 6q14.1 NA NA NA NA rs12606 0.16 0.16 0.144 0.146965 0.2992 0.0516 0.1816 0.0091 0.2505 0.3 0.05 0.22 0.01 0.2878 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218542 NA NA 0.334302 0.058783 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038279.1;CLNDSDB=.;CLNDSDBID=. 4.4120314 1211 14 100808845 100808845 G A exonic WARS NA synonymous SNV WARS:NM_213645:exon8:c.C880T:p.L294L,WARS:NM_213646:exon8:c.C880T:p.L294L,WARS:NM_004184:exon9:c.C1003T:p.L335L,WARS:NM_173701:exon9:c.C1003T:p.L335L exonic ENSG00000140105 NA synonymous SNV ENSG00000140105:ENST00000344102:exon8:c.C880T:p.L294L,ENSG00000140105:ENST00000358655:exon8:c.C880T:p.L294L,ENSG00000140105:ENST00000355338:exon9:c.C1003T:p.L335L,ENSG00000140105:ENST00000392882:exon9:c.C1003T:p.L335L,ENSG00000140105:ENST00000556645:exon9:c.C880T:p.L294L,ENSG00000140105:ENST00000557135:exon10:c.C1003T:p.L335L Score=464;Name=lod=103 NA 14q32.2 NA NA NA NA rs9453 0.7 0.7 0.656 0.692692 0.7644 0.755 0.8372 0.4372 0.7975 0.76 0.77 0.84 0.42 0.7464 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452994 1.452994 NA 0.74407 0.491602 NA 0.609 NA 4.4117966 1211 4 3230804 3230804 A C intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA Name=SUZ12,c-Myc NA NA rs2530598 0.52 0.52 0.524 0.514577 0.5885 0.625 0.5821 0.2231 0.6708 0.57 0.66 0.57 0.25 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059861 NA NA NA NA NA 0.391 NA 4.4115 1211 6 80912746 80912746 C T intronic BCKDHB NA NA NA intronic ENSG00000083123 NA NA NA NA NA 6q14.1 NA NA NA NA rs3828753 0.66 0.66 0.653 0.696286 0.5885 0.7063 0.7075 0.6823 0.8078 0.58 0.71 0.66 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43936 NA NA NA NA NA 0.732 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082773.1;CLNDSDB=.;CLNDSDBID=. 4.4115 1211 2 74761422 74761422 T C intronic LOXL3 NA NA NA intronic ENSG00000115318 NA NA NA NA NA 2p13.1 NA Name=Pol2-4H8 NA NA rs6707302 0.52 0.52 0.544 0.555112 0.1511 0.8294 0.379 0.9123 0.3303 0.14 0.83 0.31 0.89 0.2905 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261412 NA NA 0.147093 0.795506 NA 0.449 NA 4.411307 1211 6 26598188 26598188 A G exonic ABT1 NA synonymous SNV ABT1:NM_013375:exon2:c.A288G:p.G96G exonic ENSG00000146109 NA synonymous SNV ENSG00000146109:ENST00000274849:exon2:c.A288G:p.G96G NA NA 6p22.2 NA NA NA NA rs3800303 0.49 0.49 0.451 0.516174 0.3787 0.6667 0.5144 0.4917 0.5368 0.4 0.64 0.49 0.45 0.4571 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408847 NA NA 0.419884 0.47685 NA 0.333 NA 4.4109826 1211 16 30366039 30366039 G A UTR5 CD2BP2 NM_001243646:c.-37C>T NA NA UTR5 ENSG00000169217 ENST00000569466:c.-37C>T NA NA NA NA 16p11.2 NA NA Name=14 NA rs35480350 0.17 0.17 0.159 0.171925 0.326 0.0794 0.2032 0.0348 0.272 0.3 0.08 0.2 0.05 0.2721 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.038553 NA NA 0.324535 0.088757 NA 0.261 NA 4.4106984 1211 1 110194255 110194255 A G intergenic AMPD2,GSTM4 dist=19578;dist=4443 NA NA ncRNA_exonic ENSG00000235045 NA NA NA Score=757;Name=lod=1586 NA 1p13.3 NA NA NA NA rs686163 0.62 0.62 0.608 0.610024 0.5895 0.6726 0.7176 0.5628 0.5542 0.59 0.67 0.71 0.57 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5269 NA NA NA NA NA 0.645 NA 4.4105 1211 5 17354037 17354037 A G intergenic BASP1,LOC401177 dist=77083;dist=24978 NA NA ncRNA_exonic ENSG00000223361,ENSG00000248223 NA NA NA Score=747;Name=lod=1448 NA 5p15.1 NA NA NA NA rs7733712 0.59 0.59 0.531 0.590855 0.5895 0.5456 0.5893 0.5764 0.6595 0.59 0.57 0.61 0.57 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.831345 1.831345 NA NA NA NA 0.471 NA 4.4105 1211 5 17354041 17354041 T C intergenic BASP1,LOC401177 dist=77087;dist=24974 NA NA ncRNA_exonic ENSG00000223361,ENSG00000248223 NA NA NA Score=747;Name=lod=1448 NA 5p15.1 NA NA NA NA rs7715898 0.58 0.58 0.527 0.590855 0.5895 0.5456 0.5893 0.5764 0.6595 0.59 0.57 0.6 0.57 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.700707 1.700707 NA NA NA NA 0.471 NA 4.4105 1211 7 142469343 142469343 C T intergenic PRSS1,PRSS3P2 dist=8416;dist=9414 NA NA ncRNA_exonic ENSG00000250591 NA NA NA Score=488;Name=lod=128 NA 7q34 NA NA NA NA rs11765409 0.38 0.38 0.342 0.323882 0.5895 0.2321 0.5101 0.0908 0.3282 0.59 0.25 0.52 0.11 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103882 NA NA NA NA NA 0.42 NA 4.4105 1211 12 101463060 101463060 A G intronic ANO4 NA NA NA intronic ENSG00000151572 NA NA NA Score=397;Name=lod=55 NA 12q23.1 NA NA NA NA rs683561 0.76 0.76 0.739 0.802117 0.5895 0.8938 0.7233 0.9289 0.8108 0.58 0.89 0.73 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238255 NA NA NA NA NA 0.688 NA 4.4105 1211 19 10404227 10404227 C G intronic ICAM5 NA NA NA intronic ENSG00000105376 NA NA NA NA NA 19p13.2 NA Name=Egr-1,E2F6_(H-50) NA NA rs2569703 0.51 0.51 0.495 0.51897 0.5895 0.3442 0.647 0.5719 0.4642 0.58 0.37 0.6 0.52 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027607 NA NA NA NA NA 0.558 NA 4.4105 1211 19 55716800 55716800 A G exonic PTPRH NA synonymous SNV PTPRH:NM_002842:exon4:c.T513C:p.T171T exonic ENSG00000080031 NA synonymous SNV ENSG00000080031:ENST00000376350:exon4:c.T513C:p.T171T NA NA 19q13.42 NA NA NA NA rs2288516 0.37 0.37 0.379 0.418331 0.4145 0.1964 0.3213 0.6172 0.4509 0.39 0.19 0.33 0.58 0.4119 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059865 NA NA 0.429884 0.589424 NA 0.268 NA 4.4103826 1211 4 71396989 71396989 C T exonic AMTN NA synonymous SNV AMTN:NM_212557:exon8:c.C591T:p.I197I exonic ENSG00000187689 NA synonymous SNV ENSG00000187689:ENST00000339336:exon8:c.C591T:p.I197I,ENSG00000187689:ENST00000504451:exon8:c.C588T:p.I196I NA NA 4q13.3 NA NA NA NA rs17676820 0.31 0.31 0.275 0.273762 0.4453 0.1994 0.4568 0.1157 0.2577 0.45 0.21 0.43 0.13 0.37 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088251 NA NA 0.441163 0.181798 ID=COSM1131067;OCCURENCE=1(prostate) 0.29 NA 4.4102036 1211 22 23029526 23029526 G C intergenic GGTLC2,MIR650 dist=39158;dist=135744 NA NA exonic ENSG00000211659 NA nonsynonymous SNV ENSG00000211659:ENST00000390305:exon2:c.G128C:p.G43A NA NA 22q11.22 NA NA NA NA rs3205084 0.2 0.2 0.196 0.194688 0.1342 0.2589 0.1412 0.2549 0.1472 0.14 0.27 0.15 0.25 0.1553 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.620847 1.620847 0.03 0.133791 0.220996 NA 0.181 NA 4.4100424 1211 16 55527113 55527113 G A exonic MMP2 NA synonymous SNV MMP2:NM_001127891:exon9:c.G1230A:p.T410T,MMP2:NM_004530:exon9:c.G1380A:p.T460T exonic ENSG00000087245 NA synonymous SNV ENSG00000087245:ENST00000570283:exon3:c.G255A:p.T85T,ENSG00000087245:ENST00000219070:exon9:c.G1380A:p.T460T,ENSG00000087245:ENST00000437642:exon9:c.G1230A:p.T410T,ENSG00000087245:ENST00000543485:exon9:c.G1152A:p.T384T,ENSG00000087245:ENST00000570308:exon10:c.G1152A:p.T384T NA NA 16q12.2 NA NA NA NA rs2287074 0.35 0.35 0.334 0.32488 0.4344 0.2867 0.4395 0.1793 0.3671 0.47 0.29 0.44 0.17 0.3927 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004256 NA NA 0.429535 0.221565 NA 0.297 NA 4.4100316 1211 12 13828659 13828659 T C intronic GRIN2B NA NA NA intronic ENSG00000150086 NA NA NA Score=601;Name=lod=370 NA 12p13.1 NA NA NA NA rs11055581 0.12 0.12 0.103 0.103834 0.2237 0.0129 0.1801 0.034 0.1145 0.22 0.01 0.22 0.03 0.1577 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572374 NA NA 0.208605 0.050159 ID=COSN164177;OCCURENCE=1(breast) 0.072 NA 4.409995 1211 22 42177899 42177899 A G intronic MEI1 NA NA NA intronic ENSG00000167077 NA NA NA NA NA 22q13.2 NA NA Name=4 NA rs45500192 0.16 0.16 0.105 0.158147 0.1948 0.0645 0.4092 0.0204 0.2249 0.19 0.06 0.41 0.03 0.2147 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121063 NA NA 0.18053 0.044051 NA 0.138 NA 4.40997 1211 11 65412467 65412467 G A exonic SIPA1 NA synonymous SNV SIPA1:NM_006747:exon5:c.G1026A:p.A342A,SIPA1:NM_153253:exon5:c.G1026A:p.A342A exonic ENSG00000213445 NA synonymous SNV ENSG00000213445:ENST00000394227:exon4:c.G1026A:p.A342A,ENSG00000213445:ENST00000394224:exon5:c.G1026A:p.A342A,ENSG00000213445:ENST00000527525:exon5:c.G1026A:p.A342A,ENSG00000213445:ENST00000534313:exon5:c.G1026A:p.A342A NA NA 11q13.1 NA NA NA NA rs2306364 0.33 0.33 0.341 0.353435 0.4364 0.251 0.2579 0.3321 0.4703 0.44 0.22 0.3 0.32 0.4009 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241069 1.241069 NA 0.419479 0.335756 NA 0.283 NA 4.4098876 1211 1 238655362 238655362 A G intergenic LOC339535,CHRM3 dist=6045;dist=1137011 NA NA ncRNA_exonic ENSG00000215149 NA NA NA Score=554;Name=lod=238 NA 1q43 NA NA NA NA rs2392861 0.6 0.6 0.565 0.585463 0.5905 0.7718 0.611 0.4713 0.5245 0.57 0.76 0.58 0.47 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078886 NA NA NA NA NA 0.609 NA 4.4095 1211 6 66547322 66547322 T G intergenic SLC25A51P1,NONE dist=47946;dist=NONE NA NA ncRNA_exonic ENSG00000233859 NA NA NA Score=784;Name=lod=2049 NA 6q12 NA NA NA NA rs9363455 0.68 0.68 0.623 0.639976 0.5905 0.7937 0.6931 0.4266 0.7832 0.6 0.85 0.69 0.59 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.793751 NA NA NA NA NA 0.565 NA 4.4095 1211 7 48943352 48943352 T C intergenic ABCA13,CDC14C dist=256261;dist=20805 NA NA ncRNA_exonic ENSG00000229165 NA NA NA Score=607;Name=lod=391 NA 7p12.3 NA NA NA NA rs887451 0.57 0.57 0.548 0.545128 0.5905 0.6558 0.5461 0.4312 0.5378 0.58 0.67 0.57 0.42 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002199 NA NA NA NA NA 0.601 NA 4.4095 1211 4 22595940 22595940 A G intergenic GPR125,GBA3 dist=78263;dist=98597 NA NA ncRNA_exonic ENSG00000244538 NA NA NA Score=689;Name=lod=845 NA 4p15.2 NA NA NA NA rs2618962 0.41 0.41 0.426 0.379593 0.5915 0.2123 0.4222 0.3283 0.3732 0.58 0.22 0.44 0.35 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.827066 2.827066 NA NA NA NA 0.565 NA 4.4085 1211 16 1568402 1568402 A G intronic IFT140 NA NA NA intronic ENSG00000187535 NA NA NA NA NA 16p13.3 NA Name=ZNF263 NA NA rs2076434 0.27 0.27 0.287 0.288339 0.1859 0.3333 0.1614 0.4054 0.2791 0.2 0.31 0.18 0.39 0.2206 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125425 NA NA 0.185814 0.359254 NA 0.312 NA 4.407686 1211 10 54148888 54148888 C A intergenic DKK1,MBL2 dist=71471;dist=376252 NA NA ncRNA_exonic ENSG00000213657 NA NA NA Score=703;Name=lod=955 NA 10q21.1 NA NA NA NA rs1194667 0.77 0.77 0.796 0.78734 0.5924 0.9335 0.6571 0.9501 0.7096 0.59 0.93 0.65 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687718 NA NA NA NA NA 0.739 NA 4.4076 1211 10 54148923 54148923 G A intergenic DKK1,MBL2 dist=71506;dist=376217 NA NA ncRNA_exonic ENSG00000213657 NA NA NA Score=703;Name=lod=955 NA 10q21.1 NA NA NA NA rs1194666 0.77 0.77 0.778 0.786342 0.5924 0.9335 0.6571 0.9463 0.7096 0.59 0.93 0.65 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263608 NA NA NA NA NA 0.739 NA 4.4076 1211 10 54149243 54149243 A C intergenic DKK1,MBL2 dist=71826;dist=375897 NA NA ncRNA_exonic ENSG00000213657 NA NA NA Score=703;Name=lod=955 NA 10q21.1 NA NA NA NA rs6480837 0.77 0.77 0.784 0.78734 0.5924 0.9335 0.6571 0.9501 0.7096 0.59 0.93 0.65 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2542 NA NA NA NA NA 0.739 NA 4.4076 1211 11 49942580 49942580 A T intergenic LOC440040,OR4C13 dist=110611;dist=31363 NA NA ncRNA_exonic ENSG00000254940 NA NA NA Score=251;Name=lod=14 NA 11p11.12 NA NA NA NA rs12364337 0.51 0.51 0.483 0.492212 0.5924 0.5565 0.634 0.2912 0.4939 0.59 0.55 0.64 0.21 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.0001 NA NA NA NA NA 0.5 NA 4.4076 1211 1 159169641 159169641 T C exonic CADM3 NA synonymous SNV CADM3:NM_001127173:exon8:c.T1053C:p.L351L,CADM3:NM_021189:exon9:c.T1155C:p.L385L exonic ENSG00000162706 NA synonymous SNV ENSG00000162706:ENST00000368125:exon8:c.T1053C:p.L351L,ENSG00000162706:ENST00000368124:exon9:c.T1155C:p.L385L NA NA 1q23.2 Score=858;Name=V$BRN2_01 NA NA NA rs862999 0.83 0.83 0.855 0.83107 0.7425 0.9276 0.7205 0.9123 0.7914 0.75 0.94 0.7 0.91 0.7743 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.341194 NA NA 0.742326 0.881979 NA 0.768 NA 4.4075406 1211 8 21890589 21890589 G A intronic NPM2 NA NA NA intronic ENSG00000158806 NA NA NA NA NA 8p21.3 NA NA Name=3 NA rs1947986 0.34 0.34 0.334 0.349441 0.3101 0.4514 0.2795 0.3064 0.3926 0.31 0.45 0.28 0.3 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295606 NA NA 0.282663 0.305166 NA 0.406 NA 4.407237 1211 15 76073218 76073218 C A intergenic MIR4313,UBE2Q2 dist=18562;dist=62404 NA NA ncRNA_intronic ENSG00000187812 NA NA NA Score=441;Name=lod=83 NA 15q24.2 NA NA NA NA rs35237189 0.25 0.25 0.208 0.245807 0.3002 0.2321 0.3617 0.146 0.2566 0.31 0.2 0.33 0.14 0.2928 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280466 NA NA NA NA ID=COSM147954;OCCURENCE=1(stomach) 0.261 NA 4.407 1211 6 110146303 110146303 G A exonic FIG4 NA synonymous SNV FIG4:NM_014845:exon23:c.G2559A:p.S853S exonic ENSG00000112367 NA synonymous SNV ENSG00000112367:ENST00000441478:exon17:c.G1641A:p.S547S,ENSG00000112367:ENST00000230124:exon23:c.G2559A:p.S853S NA NA 6q21 NA NA NA NA rs1127771 0.39 0.39 0.384 0.395767 0.4205 0.5595 0.451 0.0915 0.5736 0.42 0.56 0.43 0.1 0.4289 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444223 NA NA 0.410349 0.14798 NA 0.333 NA 4.4069176 1211 4 9784631 9784631 C T exonic DRD5 NA synonymous SNV DRD5:NM_000798:exon1:c.C978T:p.P326P exonic ENSG00000169676 NA synonymous SNV ENSG00000169676:ENST00000304374:exon1:c.C978T:p.P326P NA NA 4p16.1 NA NA NA NA rs6283 0.59 0.59 0.572 0.609026 0.6302 0.6121 0.6282 0.5946 0.59 0.59 0.59 0.62 0.57 0.6307 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002421 NA NA NA NA NA 0.152 NA 4.4057666 1211 16 84170 84170 C T intergenic DDX11L10,POLR3K dist=20080;dist=12809 NA NA ncRNA_exonic ENSG00000226942 NA NA NA NA NA 16p13.3 NA NA Name=4 NA rs2562132 0.51 0.51 0.468 0.479233 0.5944 0.5992 0.4784 0.2655 0.5266 0.62 0.57 0.49 0.27 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.715464 NA NA NA NA NA 0.551 NA 4.4056 1211 2 220041091 220041091 G A intronic CNPPD1 NA NA NA UTR5 ENSG00000144567 ENST00000458520:c.-4367G>A NA NA NA NA 2q35 NA Name=EBF1_(C-8),PAX5-C20,PAX5-N19,PU.1 Name=60 NA rs6436123 0.42 0.42 0.409 0.401757 0.6163 0.2292 0.402 0.2421 0.5746 0.63 0.25 0.45 0.27 0.544 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.03113 2.03113 NA 0.600814 0.290967 NA 0.493 NA 4.4055527 1211 5 140572668 140572668 C T exonic PCDHB10 NA synonymous SNV PCDHB10:NM_018930:exon1:c.C543T:p.N181N exonic ENSG00000120324 NA synonymous SNV ENSG00000120324:ENST00000239446:exon1:c.C543T:p.N181N NA NA 5q31.3 NA NA NA NA rs597064 0.48 0.48 0.474 0.48722 0.4076 0.5685 0.5432 0.5083 0.4172 0.4 0.57 0.47 0.49 0.4436 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.122476 NA NA 0.410116 0.470041 NA 0.413 NA 4.4053506 1211 18 12718593 12718593 A G exonic PSMG2 NA synonymous SNV PSMG2:NM_020232:exon4:c.A366G:p.S122S,PSMG2:NM_147163:exon4:c.A273G:p.S91S exonic ENSG00000128789 NA synonymous SNV ENSG00000128789:ENST00000317615:exon4:c.A366G:p.S122S,ENSG00000128789:ENST00000590217:exon4:c.A366G:p.S122S NA NA 18p11.21 NA NA NA NA rs2302768 0.33 0.33 0.318 0.293331 0.4324 0.3046 0.281 0.2466 0.2106 0.46 0.28 0.29 0.24 0.381 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911817 NA NA 0.448023 0.30345 NA 0.428 NA 4.4052436 1211 3 1424718 1424718 G A exonic CNTN6 NA synonymous SNV CNTN6:NM_014461:exon18:c.G2259A:p.V753V exonic ENSG00000134115 NA synonymous SNV ENSG00000134115:ENST00000539053:exon17:c.G2043A:p.V681V,ENSG00000134115:ENST00000350110:exon18:c.G2259A:p.V753V,ENSG00000134115:ENST00000446702:exon18:c.G2259A:p.V753V NA NA 3p26.3 NA NA NA NA rs2291101 0.49 0.49 0.458 0.483427 0.3917 0.6508 0.5476 0.3684 0.5153 0.4 0.62 0.51 0.44 0.4449 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639063 NA NA 0.424884 0.372901 NA 0.406 NA 4.4051826 1211 6 151627034 151627034 A G exonic AKAP12 NA synonymous SNV AKAP12:NM_005100:exon3:c.A315G:p.T105T exonic ENSG00000131016 NA synonymous SNV ENSG00000131016:ENST00000253332:exon2:c.A315G:p.T105T,ENSG00000131016:ENST00000402676:exon3:c.A315G:p.T105T NA NA 6q25.1 NA NA NA NA rs2294792 0.27 0.27 0.231 0.23103 0.4423 0.0615 0.3674 0.1172 0.2454 0.45 0.09 0.38 0.12 0.3829 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036686 NA NA 0.436395 0.178247 NA 0.312 NA 4.4050716 1212 15 65676617 65676617 T C exonic IGDCC4 NA synonymous SNV IGDCC4:NM_020962:exon20:c.A3483G:p.P1161P exonic ENSG00000103742 NA synonymous SNV ENSG00000103742:ENST00000352385:exon20:c.A3483G:p.P1161P NA NA 15q22.31 NA NA NA NA rs2292933 0.55 0.55 0.508 0.520168 0.3926 0.6687 0.5994 0.5976 0.3374 0.41 0.67 0.56 0.6 0.4649 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121801 NA NA 0.404396 0.565652 NA 0.5 NA 4.4047706 1212 4 25417244 25417244 C T intronic ANAPC4 NA NA NA intronic ENSG00000053900 NA NA NA NA Name=Rheumatoid arthritis 4p15.2 NA NA NA NA rs3816587 0.47 0.47 0.448 0.455072 0.5954 0.3056 0.5187 0.4576 0.4162 0.59 0.31 0.52 0.42 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093565 NA NA NA NA NA 0.442 NA 4.4046 1212 12 48251533 48251533 C T intronic VDR NA NA NA intronic ENSG00000111424 NA NA NA NA NA 12q13.11 NA Name=PU.1 NA NA rs11168266 0.5 0.5 0.52 0.51278 0.5954 0.3214 0.4726 0.5953 0.5419 0.59 0.29 0.5 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265524 NA NA NA NA NA 0.493 NA 4.4046 1212 13 111118221 111118221 T C intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA Name=3 NA rs1983932 0.52 0.52 0.525 0.513778 0.5954 0.2986 0.5115 0.6717 0.4397 0.59 0.28 0.56 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216601 NA NA NA NA NA 0.536 NA 4.4046 1212 19 23438039 23438039 T A intergenic ZNF724P,ZNF91 dist=4867;dist=102459 NA NA ncRNA_exonic ENSG00000269837 NA NA NA Score=667;Name=lod=683 NA 19p12 NA NA NA NA rs295357 0.53 0.53 0.512 0.504593 0.5954 0.6627 0.6326 0.1974 0.5726 0.62 0.66 0.59 0.2 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11828 NA NA NA NA NA 0.391 NA 4.4046 1212 9 125140696 125140696 G C intronic PTGS1 NA NA NA intronic ENSG00000095303 NA NA NA NA NA 9q33.2 NA Name=GATA-1 NA NA rs2282169 0.26 0.26 0.283 0.303315 0.1899 0.1062 0.2839 0.6021 0.2331 0.18 0.09 0.27 0.58 0.2218 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470604 NA NA 0.183721 0.539038 NA 0.42 NA 4.404579 1212 10 26357820 26357820 C T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA Score=455;Name=lod=94 NA 10p12.1 NA NA NA NA rs3817419 0.4 0.4 0.398 0.396366 0.5616 0.2956 0.3516 0.3124 0.4755 0.57 0.29 0.34 0.3 0.4844 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.212826 NA NA 0.549535 0.367907 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039025.1;CLNDSDB=.;CLNDSDBID=. 4.404465 1212 19 9075737 9075737 T C exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.A11709G:p.V3903V exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A11709G:p.V3903V NA NA 19p13.2 NA NA NA NA rs2547071 0.45 0.45 0.445 0.45607 0.4314 0.5169 0.4265 0.4652 0.4274 0.43 0.51 0.44 0.43 0.42 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017109 NA NA 0.411224 0.464081 NA 0.457 NA 4.4040426 1212 12 65514266 65514266 T C exonic WIF1 NA synonymous SNV WIF1:NM_007191:exon2:c.A219G:p.A73A exonic ENSG00000156076 NA synonymous SNV ENSG00000156076:ENST00000546001:exon1:c.A33G:p.A11A,ENSG00000156076:ENST00000286574:exon2:c.A219G:p.A73A NA NA 12q14.3 Score=838;Name=V$FAC1_01 NA NA NA rs7301320 0.81 0.81 0.832 0.824081 0.7465 0.999 0.7118 0.7632 0.8855 0.74 1 0.72 0.73 0.7765 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790534 NA NA 0.739884 0.762596 NA 0.667 NA 4.4037826 1212 16 88695300 88695300 C T intronic ZC3H18 NA NA NA intronic ENSG00000158545 NA NA NA NA NA 16q24.2 NA Name=ZNF263,HDAC2_(SC-6296),CTCF_(C-20),SMC3_(ab9263),CTCFL_(SC-98982),SP2_(SC-643),HMGN3,CTCF,ELF1_(SC-631),Rad21 Name=47 NA rs4782387 0.54 0.54 0.531 0.522364 0.5239 0.5337 0.6196 0.5946 0.3425 0.54 0.53 0.57 0.55 0.5413 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251096 NA NA 0.531054 0.592357 NA 0.442 NA 4.403746 1212 12 118520170 118520170 G A exonic VSIG10 NA synonymous SNV VSIG10:NM_019086:exon3:c.C426T:p.Y142Y exonic ENSG00000176834 NA synonymous SNV ENSG00000176834:ENST00000359236:exon3:c.C426T:p.Y142Y NA NA 12q24.23 NA NA NA NA rs7488309 0.51 0.51 0.489 0.463259 0.4115 0.5903 0.5908 0.4705 0.2853 0.41 0.63 0.56 0.51 0.4422 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154222 NA NA 0.409245 0.428682 ID=COSM1359176;OCCURENCE=1(large_intestine) 0.37 NA 4.4037216 1212 10 16975078 16975078 G A intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA NA NA 10p13 NA Name=CTCF NA NA rs2271461 0.2 0.2 0.196 0.196885 0.1958 0.3194 0.1614 0.0862 0.2464 0.2 0.31 0.17 0.09 0.2065 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501436 NA NA 0.19407 0.127099 NA 0.181 NA 4.40363 1212 1 158146946 158146946 T C intergenic LOC646268,CD1D dist=36516;dist=2791 NA NA ncRNA_exonic ENSG00000227295 NA NA NA Score=714;Name=lod=1063 NA 1q23.1 NA NA NA NA rs3021477 0.72 0.72 0.703 0.727636 0.5964 0.8482 0.7579 0.7844 0.6401 0.6 0.85 0.72 0.76 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182043 NA NA NA NA NA 0.732 NA 4.4036 1212 11 122659691 122659691 T C intronic UBASH3B NA NA NA intronic ENSG00000154127 NA NA NA NA NA 11q24.1 NA Name=CTCF,CTCF_(SC-5916) NA NA rs2370779 0.38 0.38 0.356 0.333267 0.5964 0.2173 0.3545 0.177 0.3783 0.62 0.21 0.42 0.19 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591364 NA NA NA NA NA 0.37 NA 4.4036 1212 5 137802404 137802404 C T intronic EGR1 NA NA NA intronic ENSG00000120738 NA NA NA NA NA 5q31.2 NA Name=Pol2-4H8,Pol2,JunD,HEY1 Name=111 NA rs11743810 0.39 0.39 0.385 0.360423 0.5358 0.1786 0.5692 0.2837 0.3231 0.54 0.16 0.56 0.3 0.497 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946074 NA NA 0.564419 0.337721 NA 0.391 NA 4.402781 1212 1 16386416 16386416 G A exonic FAM131C NA synonymous SNV FAM131C:NM_182623:exon5:c.C399T:p.D133D exonic ENSG00000185519 NA synonymous SNV ENSG00000185519:ENST00000375662:exon5:c.C399T:p.D133D Score=401;Name=lod=57 NA 1p36.13 NA NA NA NA rs9442230 0.72 0.72 0.693 0.710463 0.7584 0.8155 0.768 0.4871 0.8139 0.76 0.84 0.77 0.5 0.7488 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258009 1.258009 NA 0.75683 0.542118 ID=COSM424446;OCCURENCE=1(breast) 0.406 NA 4.4026366 1212 21 33368188 33368188 T C exonic HUNK NA synonymous SNV HUNK:NM_014586:exon10:c.T1413C:p.L471L exonic ENSG00000142149 NA synonymous SNV ENSG00000142149:ENST00000439107:exon4:c.T255C:p.L85L,ENSG00000142149:ENST00000270112:exon10:c.T1413C:p.L471L Score=393;Name=lod=53 NA 21q22.11 NA NA NA NA rs2070371 0.7 0.7 0.697 0.703075 0.7555 0.6726 0.7017 0.6581 0.7423 0.77 0.69 0.65 0.66 0.7357 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896716 NA NA 0.772907 0.684521 NA 0.754 NA 4.4025596 1212 16 53526551 53526551 C T intronic AKTIP NA NA NA ncRNA_exonic ENSG00000262557 NA NA NA NA NA 16q12.2 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs9931702 0.46 0.46 0.497 0.509585 0.4602 0.1796 0.4006 0.8767 0.4816 0.45 0.15 0.45 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65574 NA NA 0.470773 0.764451 NA 0.638 NA 4.4023603 1212 13 43358176 43358176 G A intronic FAM216B NA NA NA intronic ENSG00000179813 NA NA NA Score=265;Name=lod=16 NA 13q14.11 NA NA NA NA rs1324422 0.2 0.2 0.178 0.207069 0.1859 0.3204 0.2233 0.0545 0.3067 0.2 0.32 0.19 0.07 0.2156 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.872658 1.872658 NA 0.196744 0.070813 NA 0.21 NA 4.401756 1212 6 80064315 80064315 C G intergenic LOC100288198,LCA5 dist=117798;dist=130393 NA NA ncRNA_exonic ENSG00000218029 NA NA NA Score=524;Name=lod=179 NA 6q14.1 NA NA NA NA rs7759249 0.72 0.72 0.711 0.767372 0.5984 0.8075 0.6657 0.9546 0.7188 0.58 0.79 0.64 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164608 NA NA NA NA NA 0.659 NA 4.4016 1212 6 29857359 29857359 C A ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA Score=472;Name=lod=110 NA 6p22.1 NA NA NA NA rs28668506 0.53 0.53 0.587 0.613219 0.6332 0.5208 0.6571 0.6657 0.5859 0.55 0.43 0.51 0.63 0.6321 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.692485 NA NA NA NA NA 0.326 NA 4.4013666 1212 8 49207218 49207218 A T intergenic UBE2V2,EFCAB1 dist=232764;dist=420256 NA NA ncRNA_exonic ENSG00000253654 NA NA NA Score=645;Name=lod=560 NA 8q11.21 NA NA NA NA rs11777512 0.48 0.48 0.432 0.38778 0.5994 0.502 0.5331 0.1384 0.2863 0.59 0.54 0.54 0.19 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721058 NA NA NA NA NA 0.428 NA 4.4006 1212 8 134338367 134338367 G A intergenic NDRG1,ST3GAL1 dist=28820;dist=128724 NA NA ncRNA_exonic ENSG00000243537 NA NA NA Score=690;Name=lod=849 NA 8q24.22 NA NA NA NA rs11778385 0.58 0.58 0.569 0.58127 0.5994 0.3532 0.7176 0.7579 0.4622 0.61 0.33 0.67 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085244 NA NA NA NA NA 0.71 NA 4.4006 1212 17 55183203 55183203 T C exonic AKAP1 NA synonymous SNV AKAP1:NM_003488:exon2:c.T378C:p.D126D,AKAP1:NM_001242902:exon3:c.T378C:p.D126D,AKAP1:NM_001242903:exon3:c.T378C:p.D126D exonic ENSG00000121057 NA synonymous SNV ENSG00000121057:ENST00000314126:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000337714:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000481416:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000539273:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000572156:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000572557:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000572814:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000575322:exon2:c.T378C:p.D126D,ENSG00000121057:ENST00000571629:exon3:c.T378C:p.D126D NA NA 17q22 NA NA NA NA rs2230772 0.49 0.49 0.473 0.478235 0.4026 0.8046 0.4798 0.3548 0.3855 0.4 0.78 0.43 0.34 0.4491 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403052 NA NA 0.414419 0.346346 NA 0.391 NA 4.4005476 1212 17 6538355 6538355 G A exonic KIAA0753 NA synonymous SNV KIAA0753:NM_014804:exon2:c.C69T:p.S23S exonic ENSG00000198920 NA synonymous SNV ENSG00000198920:ENST00000570790:exon1:c.C69T:p.S23S,ENSG00000198920:ENST00000361413:exon2:c.C69T:p.S23S,ENSG00000198920:ENST00000573033:exon2:c.C69T:p.S23S,ENSG00000198920:ENST00000571642:exon3:c.C69T:p.S23S NA NA 17p13.1 NA NA NA NA rs2301873 0.36 0.36 0.334 0.336262 0.4543 0.2897 0.3271 0.2655 0.365 0.47 0.32 0.34 0.26 0.3849 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290038 NA NA 0.42701 0.290179 ID=COSM437193;OCCURENCE=1(breast) 0.246 NA 4.4004566 1212 20 57569816 57569816 G T UTR3 NELFCD NM_198976:c.*85G>T NA NA UTR3 ENSG00000101158 ENST00000602795:c.*85G>T,ENST00000344018:c.*85G>T,ENST00000460601:c.*85G>T NA NA NA NA 20q13.32 NA Name=Pol2-4H8 NA NA rs7341 0.43 0.43 0.393 0.413538 0.4622 0.626 0.4308 0.152 0.4857 0.45 0.62 0.45 0.17 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847403 NA NA 0.470773 0.195809 NA 0.384 NA 4.4003604 1212 14 64476680 64476680 T A intronic SYNE2 NA NA NA intronic ENSG00000054654 NA NA NA NA NA 14q23.2 NA NA NA NA rs7146588 0.33 0.33 0.355 0.35024 0.169 0.2272 0.304 0.6657 0.2699 0.18 0.24 0.32 0.66 0.2425 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.008243 2.008243 NA 0.188377 0.565578 NA 0.37 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118539.1;CLNDSDB=.;CLNDSDBID=. 4.400123 1212 16 24578458 24578458 T C intronic RBBP6 NA NA NA intronic ENSG00000122257 NA NA NA Score=623;Name=lod=455 Name=Obesity-related traits 16p12.1 NA NA NA NA rs7195386 0.61 0.61 0.596 0.669529 0.5328 0.4266 0.647 0.9017 0.7628 0.53 0.46 0.63 0.89 0.5654 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597732 NA NA 0.501744 0.82294 NA 0.609 NA 4.400056 1212 4 184600601 184600601 A G exonic TRAPPC11 NA synonymous SNV TRAPPC11:NM_021942:exon9:c.A927G:p.A309A,TRAPPC11:NM_199053:exon9:c.A927G:p.A309A exonic ENSG00000168538 NA synonymous SNV ENSG00000168538:ENST00000334690:exon9:c.A927G:p.A309A,ENSG00000168538:ENST00000357207:exon9:c.A927G:p.A309A NA NA 4q35.1 NA NA NA NA rs4241779 0.48 0.48 0.488 0.485623 0.3907 0.5337 0.5187 0.6467 0.2924 0.4 0.51 0.45 0.59 0.4451 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.9436 NA NA 0.430814 0.623695 NA 0.478 NA 4.4000526 1212 9 139371786 139371786 A C exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.T282G:p.V94V,SEC16A:NM_014866:exon3:c.T282G:p.V94V exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000313050:exon1:c.T282G:p.V94V NA NA 9q34.3 NA NA NA NA rs6560632 0.39 0.39 0.381 0.38119 0.4105 0.2153 0.6124 0.4266 0.2965 0.42 0.22 0.53 0.44 0.4092 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023667 NA NA 0.446995 0.403663 NA 0.348 NA 4.3999716 1212 19 11233941 11233941 A G exonic LDLR NA synonymous SNV LDLR:NM_001195800:exon13:c.A1728G:p.R576R,LDLR:NM_001195803:exon13:c.A1698G:p.R566R,LDLR:NM_001195799:exon14:c.A2109G:p.R703R,LDLR:NM_001195802:exon14:c.A1869G:p.R623R,LDLR:NM_000527:exon15:c.A2232G:p.R744R,LDLR:NM_001195798:exon15:c.A2232G:p.R744R exonic ENSG00000130164 NA synonymous SNV ENSG00000130164:ENST00000455727:exon13:c.A1728G:p.R576R,ENSG00000130164:ENST00000545707:exon13:c.A1698G:p.R566R,ENSG00000130164:ENST00000535915:exon14:c.A2109G:p.R703R,ENSG00000130164:ENST00000557933:exon15:c.A2232G:p.R744R,ENSG00000130164:ENST00000558013:exon15:c.A2232G:p.R744R,ENSG00000130164:ENST00000558518:exon15:c.A2232G:p.R744R NA NA 19p13.2 NA Name=Pol2(b) NA NA rs5927 0.79 0.79 0.744 0.780152 0.7256 0.9554 0.853 0.6528 0.7761 0.73 0.95 0.83 0.65 0.7762 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042992 NA NA 0.765 0.687472 NA 0.652 NA 4.3998666 1212 6 66547178 66547178 G A intergenic SLC25A51P1,NONE dist=47802;dist=NONE NA NA ncRNA_exonic ENSG00000233859 NA NA NA Score=784;Name=lod=2049 NA 6q12 NA NA NA NA rs4392709 0.71 0.71 0.683 0.720248 0.6004 0.8611 0.7435 0.6339 0.7986 0.61 0.87 0.7 0.69 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018496 NA NA NA NA NA 0.681 NA 4.3996 1212 7 22862192 22862192 A G intronic TOMM7 NA NA NA intronic ENSG00000196683 NA NA NA NA NA 7p15.3 NA Name=Pol2,AP-2gamma,Ini1 NA NA rs2270106 0.71 0.71 0.736 0.714657 0.6004 0.8452 0.5216 0.882 0.6084 0.63 0.83 0.52 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644693 NA NA NA NA NA 0.797 NA 4.3996 1212 2 135694379 135694379 C T intronic CCNT2 NA NA NA intronic ENSG00000082258 NA NA NA NA NA 2q21.3 Score=891;Name=V$FOXJ2_01 NA Name=5 NA rs1374289 0.72 0.72 0.731 0.734625 0.5457 0.877 0.6427 0.7761 0.7914 0.53 0.9 0.66 0.83 0.5891 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.971531 NA NA 0.465698 0.713572 NA 0.543 NA 4.399502 1212 1 159169463 159169463 C T ncRNA_intronic LOC100131825 NA NA NA ncRNA_intronic ENSG00000225670 NA NA NA NA NA 1q23.2 NA NA NA NA rs3027001 0.13 0.13 0.11 0.0972444 0.2674 0.0367 0.1282 0.0053 0.0869 0.27 0.03 0.15 0.01 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422445 NA NA NA NA NA 0.065 NA 4.3992666 1212 14 106471528 106471528 C A intergenic ADAM6,LINC00226 dist=33170;dist=272741 NA NA exonic ENSG00000211935 NA synonymous SNV ENSG00000211935:ENST00000390595:exon2:c.G69T:p.L23L Score=304;Name=lod=23 NA 14q32.33 NA NA NA NA rs35966079 0.44 0.44 0.408 0.586262 0.5934 0.7371 0.5663 0.3669 0.7342 0.45 0.61 0.41 0.24 0.5079 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18637 NA NA NA NA NA 0.377 NA 4.3987 1212 1 16893335 16893335 T C intronic NBPF1 NA NA NA intronic ENSG00000219481 NA NA NA NA NA 1p36.13 NA Name=USF2,ATF3 NA NA rs663405 NA NA 0.652 0.597444 0.6014 0.6111 0.5965 0.5991 0.5777 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736135 NA NA NA NA NA NA NA 4.3986 1212 1 39815143 39815143 T A intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA Score=518;Name=lod=170 NA 1p34.3 NA NA NA NA rs16826093 0.15 0.15 0.122 0.118211 0.1938 0.1577 0.2061 0.0136 0.0787 0.19 0.16 0.21 0.02 0.1852 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.627511 1.627511 NA 0.222674 0.045166 NA 0.109 NA 4.398326 1212 1 146513139 146513139 A G ncRNA_intronic LOC728989 NA NA NA ncRNA_intronic ENSG00000227242 NA NA NA NA NA 1q21.1 NA NA NA NA rs61838896 0.17 0.17 0.17 0.136182 0.2684 0.0268 0.1499 0.1536 0.0798 0.28 0.02 0.19 0.16 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05649 NA NA NA NA NA 0.21 NA 4.3982666 1212 3 66463254 66463254 C G intronic LRIG1 NA NA NA intronic ENSG00000144749 NA NA NA NA NA 3p14.1 NA Name=BCL3 NA NA rs12493943 0.2 0.2 0.145 0.20008 0.2376 0.0575 0.3256 0.2269 0.183 0.24 0.05 0.31 0.23 0.2281 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371558 NA NA 0.136047 0.149796 ID=COSN166917;OCCURENCE=1(large_intestine) 0.261 NA 4.398253 1212 18 10487918 10487918 C T exonic APCDD1 NA synonymous SNV APCDD1:NM_153000:exon5:c.C1428T:p.L476L exonic ENSG00000154856 NA synonymous SNV ENSG00000154856:ENST00000355285:exon5:c.C1428T:p.L476L NA NA 18p11.22 NA NA NA NA rs3185480 0.44 0.44 0.414 0.409944 0.4304 0.6181 0.4769 0.205 0.4039 0.45 0.63 0.46 0.21 0.4297 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053536 NA NA 0.408721 0.243532 NA 0.355 NA 4.3978456 1212 8 55435633 55435633 G A intergenic SOX17,RP1 dist=62177;dist=92994 NA NA ncRNA_exonic ENSG00000226098 NA NA NA Score=556;Name=lod=242 NA 8q11.23 NA NA NA NA rs7820949 0.49 0.49 0.491 0.491813 0.6024 0.374 0.4813 0.4478 0.5665 0.59 0.39 0.49 0.44 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113194 NA NA NA NA NA 0.529 NA 4.3976 1212 12 93131203 93131203 A C UTR5 PLEKHG7 NM_001004330:c.-92A>C NA NA UTR5 ENSG00000187510 ENST00000549856:c.-92A>C,ENST00000344636:c.-92A>C NA NA NA NA 12q22 NA NA Name=3 NA rs2036553 0.58 0.58 0.562 0.576478 0.4553 0.8889 0.67 0.3434 0.6278 0.46 0.9 0.65 0.34 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245914 NA NA 0.480515 0.349711 NA 0.442 NA 4.3975184 1212 22 50312979 50312979 C T intronic CRELD2 NA NA NA intronic ENSG00000184164 NA NA NA NA NA 22q13.33 NA Name=NRSF NA NA rs9616382 0.22 0.22 0.225 0.246805 0.1988 0.1052 0.134 0.3888 0.3303 0.21 0.12 0.15 0.4 0.2081 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68737 NA NA 0.195698 0.341353 NA 0.326 NA 4.397402 1212 3 75475588 75475588 C T ncRNA_intronic FAM86DP NA NA NA ncRNA_intronic ENSG00000244026 NA NA NA NA NA 3p12.3 NA NA NA NA rs9860745 0.17 0.17 0.17 0.199481 0.1233 0.0476 0.1239 0.4682 0.1247 0.12 0.04 0.11 0.46 0.1462 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438153 NA NA NA NA NA 0.007 NA 4.3971666 1212 19 21265171 21265171 C T intronic ZNF714 NA NA NA intronic ENSG00000160352 NA NA NA NA NA 19p12 NA Name=Oct-2,ELF1_(SC-631),TAF7_(SQ-8),Pol2,Pol2(phosphoS2),POU2F2,TAF1,TBP,GTF2B,HEY1,Sin3Ak-20,KAP1,ZNF263,Pol2-4H8,YY1,Pol2(b) Name=23 NA rs7258195 0.69 0.69 0.662 0.669129 0.8201 0.8591 0.8098 0.2027 0.8487 0.8 0.88 0.8 0.24 0.7831 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328669 NA NA NA NA NA 0.688 NA 4.3968 1212 19 11227602 11227602 C T exonic LDLR NA synonymous SNV LDLR:NM_001195800:exon10:c.C1269T:p.N423N,LDLR:NM_001195799:exon11:c.C1650T:p.N550N,LDLR:NM_001195802:exon11:c.C1410T:p.N470N,LDLR:NM_001195803:exon11:c.C1392T:p.N464N,LDLR:NM_000527:exon12:c.C1773T:p.N591N,LDLR:NM_001195798:exon12:c.C1773T:p.N591N exonic ENSG00000130164 NA synonymous SNV ENSG00000130164:ENST00000455727:exon10:c.C1269T:p.N423N,ENSG00000130164:ENST00000535915:exon11:c.C1650T:p.N550N,ENSG00000130164:ENST00000545707:exon11:c.C1392T:p.N464N,ENSG00000130164:ENST00000557933:exon12:c.C1773T:p.N591N,ENSG00000130164:ENST00000558013:exon12:c.C1773T:p.N591N,ENSG00000130164:ENST00000558518:exon12:c.C1773T:p.N591N NA NA 19p13.2 NA NA NA NA rs688 0.28 0.28 0.224 0.275759 0.4414 0.1835 0.4582 0.0439 0.3845 0.45 0.15 0.43 0.06 0.3781 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.247951 NA NA 0.450465 0.110304 NA 0.254 NA 4.3967016 1212 10 81652266 81652266 G A intergenic LOC642361,LOC100288974 dist=64908;dist=12388 NA NA ncRNA_exonic ENSG00000214584 NA NA NA Score=771;Name=lod=1810 NA 10q22.3 NA NA NA NA rs927452 0.73 0.73 0.733 0.747604 0.6034 0.7758 0.6138 0.9123 0.7393 0.6 0.77 0.65 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263574 NA NA NA NA NA 0.667 NA 4.3966 1212 19 10799750 10799750 T C intronic ILF3 NA NA NA intronic ENSG00000129351 NA NA NA NA NA 19p13.2 NA Name=Pol2 NA NA rs2742313 0.65 0.65 0.634 0.678115 0.6034 0.6438 0.7738 0.7368 0.6431 0.6 0.59 0.74 0.7 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409274 NA NA NA NA NA 0.58 NA 4.3966 1212 21 32434692 32434692 C T intergenic KRTAP19-8,TIAM1 dist=23897;dist=56044 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=845;Name=lod=3636 NA 21q22.11 NA NA NA NA rs2070404 0.55 0.55 0.504 0.561901 0.6034 0.38 0.6787 0.5567 0.6309 0.62 0.38 0.68 0.54 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705076 NA NA NA NA NA 0.558 NA 4.3966 1212 21 32434766 32434766 C T intergenic KRTAP19-8,TIAM1 dist=23971;dist=55970 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=845;Name=lod=3636 NA 21q22.11 NA NA NA NA rs2070405 0.55 0.55 0.506 0.561901 0.6034 0.38 0.6787 0.5567 0.6309 0.62 0.38 0.68 0.54 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022591 NA NA NA NA NA 0.558 NA 4.3966 1212 21 32435137 32435137 A C intergenic KRTAP19-8,TIAM1 dist=24342;dist=55599 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=845;Name=lod=3636 NA 21q22.11 NA NA NA NA rs2833247 0.51 0.51 NA 0.561901 0.6034 0.38 0.6787 0.5567 0.6309 0.58 0.35 0.64 0.48 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027851 NA NA NA NA NA 0.558 NA 4.3966 1212 21 32435347 32435347 A G intergenic KRTAP19-8,TIAM1 dist=24552;dist=55389 NA NA ncRNA_exonic ENSG00000228941 NA NA NA Score=845;Name=lod=3636 NA 21q22.11 NA NA NA NA rs10854337 0.55 0.55 0.492 0.561701 0.6034 0.379 0.6787 0.5567 0.6309 0.62 0.38 0.68 0.54 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25461 NA NA NA NA NA 0.558 NA 4.3966 1212 19 21265197 21265197 G T intronic ZNF714 NA NA NA intronic ENSG00000160352 NA NA NA NA NA 19p12 NA Name=ZNF263,KAP1,YY1,Pol2(b),Oct-2,ELF1_(SC-631),YY1_(C-20),Pol2,POU2F2,TAF1 Name=23 NA rs7258409 0.69 0.69 0.652 0.669329 0.8211 0.8591 0.8098 0.2027 0.8487 0.8 0.88 0.8 0.24 0.7826 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272067 NA NA NA NA NA 0.688 NA 4.3963 1212 10 15106441 15106441 A G exonic OLAH NA synonymous SNV OLAH:NM_001039702:exon5:c.A342G:p.L114L,OLAH:NM_018324:exon6:c.A501G:p.L167L exonic ENSG00000152463 NA synonymous SNV ENSG00000152463:ENST00000378228:exon5:c.A342G:p.L114L,ENSG00000152463:ENST00000428897:exon5:c.A342G:p.L114L,ENSG00000152463:ENST00000429028:exon5:c.A342G:p.L114L,ENSG00000152463:ENST00000378217:exon6:c.A501G:p.L167L NA NA 10p13 NA NA NA NA rs10906818 0.45 0.45 0.479 0.47504 0.4165 0.5744 0.3429 0.4198 0.6012 0.39 0.59 0.36 0.43 0.4333 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225106 NA NA 0.420698 0.413527 NA 0.428 NA 4.3961686 1212 2 128370200 128370200 G A intronic MYO7B NA NA NA intronic ENSG00000169994 NA NA NA NA NA 2q14.3 Score=752;Name=V$MEF2_04 NA NA NA rs705092 0.15 0.15 0.141 0.169928 0.1998 0.129 0.1254 0.0794 0.3354 0.2 0.15 0.13 0.08 0.2166 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323308 NA NA 0.187589 0.092646 NA 0.109 NA 4.396011 1212 2 175613600 175613600 T C intronic CHRNA1 NA NA NA ncRNA_intronic ENSG00000236449 NA NA NA NA NA 2q31.1 NA Name=CTCF NA NA rs2646159 0.9 0.9 0.893 0.883187 0.9374 1 0.951 0.6543 0.9683 0.93 1 0.95 0.72 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221471 NA NA NA NA NA 0.884 NA 4.3959333 1212 4 117520667 117520667 C G intergenic MIR1973,TRAM1L1 dist=299743;dist=484043 NA NA ncRNA_exonic ENSG00000213493 NA NA NA Score=632;Name=lod=495 NA 4q26 NA NA NA NA rs4833515 0.67 0.67 0.666 0.692891 0.6044 0.5486 0.755 0.8147 0.7239 0.61 0.58 0.76 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012553 NA NA NA NA NA 0.674 NA 4.3956 1212 17 66938232 66938232 A G intronic ABCA8 NA NA NA intronic ENSG00000141338 NA NA NA NA NA 17q24.2 NA Name=CEBPB NA NA rs4147958 0.59 0.59 0.621 0.635982 0.6044 0.3948 0.5432 0.8548 0.6871 0.58 0.38 0.57 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136666 NA NA NA NA NA 0.659 NA 4.3956 1212 14 37132769 37132769 G A intronic PAX9 NA NA NA intronic ENSG00000198807 NA NA NA NA Name=Breast cancer 14q13.3 NA NA NA NA rs2236007 0.18 0.18 0.163 0.166334 0.2167 0.3155 0.121 0.0356 0.1697 0.19 0.32 0.13 0.03 0.1897 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083609 NA NA 0.198304 0.073003 NA 0.094 NA 4.395296 1212 16 15872748 15872748 G T intronic MYH11 NA NA NA intronic ENSG00000133392 NA NA NA NA NA 16p13.11 NA NA Name=3 NA rs11644832 0.22 0.22 0.207 0.198882 0.2008 0.3234 0.1369 0.1649 0.1585 0.21 0.32 0.15 0.17 0.1971 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036146 NA NA 0.206977 0.174556 NA 0.13 NA 4.395123 1213 2 44502788 44502788 A C exonic SLC3A1 NA synonymous SNV SLC3A1:NM_000341:exon1:c.A114C:p.G38G exonic ENSG00000138079 NA synonymous SNV ENSG00000138079:ENST00000260649:exon1:c.A114C:p.G38G,ENSG00000138079:ENST00000409229:exon1:c.A114C:p.G38G,ENSG00000138079:ENST00000409387:exon1:c.A114C:p.G38G,ENSG00000138079:ENST00000409741:exon1:c.A114C:p.G38G,ENSG00000138079:ENST00000410056:exon1:c.A114C:p.G38G NA NA 2p21 NA NA NA NA rs3738985 0.67 0.67 0.685 0.703474 0.7684 0.377 0.6715 0.8048 0.8589 0.76 0.4 0.69 0.83 0.7328 0.83 . . . . . . . . 1.000 P . . . . . . . . . -0.199 3.034 0.761 -0.220 0.063 6.610 -0.199049 NA NA 0.770698 0.794825 NA 0.746 NA 4.3947686 1213 1 212220847 212220847 G A intronic DTL NA NA NA intronic ENSG00000143476 NA NA NA NA NA 1q32.3 NA NA Name=2 NA rs2970592 0.49 0.49 0.484 0.499002 0.6054 0.4018 0.4856 0.4682 0.5409 0.6 0.42 0.43 0.45 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730393 NA NA NA NA NA 0.493 NA 4.3946 1213 8 13563102 13563102 A G intergenic C8orf48,SGCZ dist=137305;dist=384271 NA NA downstream ENSG00000255457 NA NA NA Score=403;Name=lod=58 NA 8p22 NA NA NA NA rs71522377 0.1 0.1 0.105 0.112021 0.1054 0.0486 0.0821 0.1959 0.092 0.1 0.04 0.08 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.235458 NA NA NA NA ID=COSN168280;OCCURENCE=1(large_intestine) 0.08 NA 4.3946 1213 6 33740592 33740592 C T intronic LEMD2 NA NA NA intronic ENSG00000161904 NA NA NA NA NA 6p21.31 NA Name=GATA-2 Name=56 NA rs4711349 0.52 0.52 0.495 0.534944 0.504 0.8313 0.4625 0.2572 0.6881 0.52 0.81 0.44 0.24 0.5605 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236719 NA NA 0.541047 0.302452 NA 0.572 NA 4.394453 1213 3 157154861 157154861 A G intronic PTX3,VEPH1 NA NA NA intronic ENSG00000163661,ENSG00000197415 NA NA NA NA NA 3q25.32 NA Name=Pol2(b) Name=114 NA rs2305619 0.55 0.55 0.502 0.5627 0.5437 0.621 0.6585 0.4092 0.6616 0.53 0.64 0.63 0.41 0.5422 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131817 NA NA 0.519651 0.423513 ID=COSM149506;OCCURENCE=1(stomach) 0.601 NA 4.394449 1213 5 77080768 77080768 A G intergenic TBCA,AP3B1 dist=8583;dist=217382 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254406 0.56 0.56 0.548 0.580272 0.6064 0.4702 0.4467 0.6384 0.683 0.59 0.51 0.48 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295408 NA NA NA NA NA 0.478 NA 4.3936 1213 9 35148203 35148203 C G intergenic FAM214B,UNC13B dist=32310;dist=13786 NA NA ncRNA_exonic ENSG00000215198 NA NA NA NA NA 9p13.3 NA Name=SETDB1 NA NA rs10972348 0.46 0.46 0.437 0.438099 0.6064 0.2054 0.6902 0.4213 0.3487 0.57 0.22 0.67 0.4 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.290791 NA NA NA NA NA 0.471 NA 4.3936 1213 10 30978388 30978388 C T intergenic LYZL2,ZNF438 dist=59741;dist=155177 NA NA ncRNA_exonic ENSG00000234814 NA NA NA Score=595;Name=lod=349 NA 10p11.23 NA NA NA NA rs28582447 NA NA 0.41 0.483227 0.6064 0.3998 0.5101 0.3245 0.638 NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86388 NA NA NA NA NA 0.37 NA 4.3936 1213 12 80496928 80496928 G A intergenic PPP1R12A,OTOGL dist=167693;dist=106305 NA NA ncRNA_exonic ENSG00000230291 NA NA NA Score=748;Name=lod=1455 NA 12q21.31 NA NA NA NA rs7295948 0.61 0.61 0.641 0.605431 0.6064 0.4663 0.4856 0.8321 0.5266 0.6 0.48 0.53 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19293 NA NA NA NA NA 0.601 NA 4.3936 1213 13 25940072 25940072 T C intergenic NUPL1,ATP8A2 dist=23511;dist=6137 NA NA ncRNA_exonic ENSG00000234152 NA NA NA Score=581;Name=lod=305 NA 13q12.13 NA NA NA NA rs9319215 0.49 0.49 0.463 0.459465 0.6064 0.5942 0.4424 0.2254 0.498 0.6 0.61 0.45 0.22 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469809 NA NA NA NA NA 0.406 NA 4.3936 1213 19 1080311 1080311 G C exonic HMHA1 NA synonymous SNV HMHA1:NM_001258328:exon14:c.G1809C:p.P603P,HMHA1:NM_012292:exon14:c.G1761C:p.P587P exonic ENSG00000180448 NA synonymous SNV ENSG00000180448:ENST00000590577:exon4:c.G666C:p.P222P,ENSG00000180448:ENST00000536472:exon13:c.G1281C:p.P427P,ENSG00000180448:ENST00000543365:exon13:c.G1410C:p.P470P,ENSG00000180448:ENST00000313093:exon14:c.G1761C:p.P587P,ENSG00000180448:ENST00000539243:exon14:c.G1809C:p.P603P,ENSG00000180448:ENST00000586866:exon14:c.G1773C:p.P591P,ENSG00000180448:ENST00000590214:exon14:c.G1842C:p.P614P NA NA 19p13.3 Score=723;Name=V$LUN1_01 NA NA NA rs2074454 0.75 0.75 0.726 0.742212 0.7396 0.6548 0.8487 0.795 0.6881 0.74 0.69 0.83 0.78 0.7693 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043428 NA NA 0.764254 0.791326 ID=COSM438504;OCCURENCE=3(breast) 0.746 NA 4.3935126 1213 9 154795 154795 T C exonic CBWD1 NA synonymous SNV CBWD1:NM_001145356:exon8:c.A576G:p.R192R,CBWD1:NM_018491:exon8:c.A576G:p.R192R,CBWD1:NM_001145355:exon9:c.A468G:p.R156R exonic ENSG00000172785 NA synonymous SNV ENSG00000172785:ENST00000356521:exon8:c.A576G:p.R192R,ENSG00000172785:ENST00000377447:exon8:c.A576G:p.R192R,ENSG00000172785:ENST00000382447:exon8:c.A576G:p.R192R,ENSG00000172785:ENST00000314367:exon9:c.A468G:p.R156R Score=528;Name=lod=186 NA 9p24.3 NA NA NA NA rs2785333 0.7 0.7 0.642 0.786941 0.7614 0.7232 0.7709 0.8306 0.8313 0.7 0.65 0.73 0.74 0.7555 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.017871 NA NA 0.756291 0.776772 NA 0.37 NA 4.3934756 1213 17 4641755 4641755 C T exonic CXCL16 NA synonymous SNV CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G exonic ENSG00000161921 NA synonymous SNV ENSG00000161921:ENST00000573123:exon2:c.G87A:p.G29G,ENSG00000161921:ENST00000293778:exon3:c.G306A:p.G102G,ENSG00000161921:ENST00000574412:exon3:c.G306A:p.G102G NA NA 17p13.2 NA NA Name=22 NA rs1050997 0.66 0.66 0.636 0.624002 0.7913 0.6944 0.6816 0.3828 0.6646 0.79 0.7 0.67 0.4 0.7082 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545202 NA NA 0.773721 0.456196 ID=COSM148161;OCCURENCE=1(stomach) 0.667 NA 4.3934456 1213 17 10448769 10448769 A T exonic MYH2 NA synonymous SNV MYH2:NM_001100112:exon5:c.T399A:p.P133P,MYH2:NM_017534:exon5:c.T399A:p.P133P exonic ENSG00000125414 NA synonymous SNV ENSG00000125414:ENST00000578017:exon2:c.T162A:p.P54P,ENSG00000125414:ENST00000431502:exon4:c.T399A:p.P133P,ENSG00000125414:ENST00000532183:exon4:c.T399A:p.P133P,ENSG00000125414:ENST00000245503:exon5:c.T399A:p.P133P,ENSG00000125414:ENST00000397183:exon5:c.T399A:p.P133P,ENSG00000125414:ENST00000420805:exon5:c.T399A:p.P133P NA NA 17p13.1 NA NA NA NA rs11078850 0.51 0.51 0.464 0.516773 0.3847 0.8333 0.5144 0.3018 0.6186 0.38 0.85 0.52 0.31 0.4808 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.149072 NA NA 0.408256 0.332047 NA 0.507 NA 4.3929106 1213 10 17113563 17113563 C T exonic CUBN NA synonymous SNV CUBN:NM_001081:exon19:c.G2487A:p.S829S exonic ENSG00000107611 NA synonymous SNV ENSG00000107611:ENST00000377833:exon19:c.G2487A:p.S829S NA NA 10p13 NA NA NA NA rs1801225 0.36 0.36 0.311 0.35603 0.3966 0.5407 0.4827 0.0552 0.4407 0.38 0.53 0.48 0.06 0.4252 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053101 NA NA 0.452209 0.108261 NA 0.275 NA 4.3926576 1213 5 77081240 77081240 T G intergenic TBCA,AP3B1 dist=9055;dist=216910 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254403 0.54 0.54 0.542 0.565695 0.6074 0.4702 0.4366 0.5908 0.6789 0.58 0.5 0.47 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213168 NA NA NA NA NA 0.464 NA 4.3926 1213 11 33581153 33581153 T C intronic KIAA1549L NA NA NA intronic ENSG00000110427 NA NA NA Score=325;Name=lod=28 NA 11p13 NA NA NA NA rs2076627 0.61 0.61 0.588 0.589058 0.6074 0.6687 0.572 0.5454 0.5593 0.63 0.66 0.59 0.54 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.196693 NA NA NA NA NA 0.493 NA 4.3926 1213 19 49646006 49646006 A G intronic PPFIA3 NA NA NA intronic ENSG00000177380 NA NA NA NA NA 19q13.33 NA Name=GATA-2 NA NA rs4545921 0.59 0.59 0.588 0.606829 0.6074 0.245 0.5965 0.9297 0.5501 0.61 0.24 0.67 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772296 NA NA NA NA NA 0.638 NA 4.3926 1213 7 64168806 64168806 T C exonic ZNF107 NA synonymous SNV ZNF107:NM_001013746:exon5:c.T2124C:p.T708T,ZNF107:NM_016220:exon7:c.T2124C:p.T708T exonic ENSG00000196247 NA synonymous SNV ENSG00000196247:ENST00000395391:exon4:c.T2124C:p.T708T,ENSG00000196247:ENST00000344930:exon5:c.T2124C:p.T708T,ENSG00000196247:ENST00000423627:exon5:c.T2124C:p.T708T NA NA 7q11.21 NA NA NA NA rs4718103 0.31 0.31 0.298 0.329273 0.4314 0.25 0.3876 0.1505 0.5061 0.41 0.25 0.4 0.16 0.4071 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269988 1.269988 NA 0.435653 0.209677 NA 0.239 NA 4.3925136 1213 3 133670225 133670225 T C intronic SLCO2A1 NA NA NA intronic ENSG00000174640 NA NA NA Score=251;Name=lod=14 NA 3q22.1 NA NA NA NA rs6767522 0.25 0.25 0.25 0.254393 0.1909 0.2827 0.2421 0.3215 0.2086 0.21 0.27 0.25 0.32 0.228 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141348 NA NA 0.188721 0.317068 NA 0.174 NA 4.392379 1213 8 27255146 27255146 G A exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon2:c.G45A:p.T15T,PTK2B:NM_173176:exon2:c.G45A:p.T15T,PTK2B:NM_004103:exon3:c.G45A:p.T15T,PTK2B:NM_173174:exon7:c.G45A:p.T15T exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon1:c.G45A:p.T15T,ENSG00000120899:ENST00000346049:exon2:c.G45A:p.T15T,ENSG00000120899:ENST00000412793:exon2:c.G45A:p.T15T,ENSG00000120899:ENST00000420218:exon2:c.G45A:p.T15T,ENSG00000120899:ENST00000522517:exon2:c.G45A:p.T15T,ENSG00000120899:ENST00000521164:exon3:c.G45A:p.T15T,ENSG00000120899:ENST00000522338:exon4:c.G45A:p.T15T,ENSG00000120899:ENST00000544172:exon6:c.G45A:p.T15T,ENSG00000120899:ENST00000338238:exon7:c.G45A:p.T15T,ENSG00000120899:ENST00000397501:exon7:c.G45A:p.T15T NA NA 8p21.2 NA NA NA NA rs1045511 0.33 0.33 0.323 0.311502 0.4304 0.2748 0.3818 0.1823 0.3517 0.44 0.27 0.38 0.2 0.398 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140269 NA NA 0.446395 0.213118 NA 0.297 NA 4.3918716 1213 8 134420163 134420163 G A intergenic NDRG1,ST3GAL1 dist=110616;dist=46928 NA NA upstream ENSG00000225259 NA NA NA NA NA 8q24.22 NA Name=USF-1 NA NA rs1989289 0.13 0.13 0.126 0.128395 0.1083 0.0506 0.1974 0.208 0.0726 0.11 0.05 0.18 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450999 NA NA NA NA NA 0.109 NA 4.3917 1213 12 80496684 80496684 C G intergenic PPP1R12A,OTOGL dist=167449;dist=106549 NA NA ncRNA_exonic ENSG00000230291 NA NA NA Score=748;Name=lod=1455 NA 12q21.31 NA NA NA NA rs7138580 0.62 0.62 0.631 0.613818 0.6083 0.4692 0.536 0.8336 0.5266 0.61 0.48 0.57 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082832 NA 1 NA NA NA 0.667 NA 4.3917 1213 12 80496825 80496825 T C intergenic PPP1R12A,OTOGL dist=167590;dist=106408 NA NA ncRNA_exonic ENSG00000230291 NA NA NA Score=748;Name=lod=1455 NA 12q21.31 NA NA NA NA rs7315692 0.6 0.6 0.614 0.60623 0.6083 0.4663 0.4885 0.8321 0.5266 0.6 0.48 0.53 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096537 NA 1 NA NA NA 0.659 NA 4.3917 1213 16 29636030 29636030 T C intergenic SLC7A5P1,SPN dist=10992;dist=38241 NA NA ncRNA_exonic ENSG00000260514 NA NA NA Score=676;Name=lod=745 NA 16p11.2 NA NA NA NA rs28480378 0.7 0.7 0.683 0.738019 0.6083 0.753 0.5159 0.8933 0.8037 0.6 0.75 0.57 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144946 NA NA NA NA NA 0.696 NA 4.3917 1213 15 71184278 71184278 G T exonic THAP10 NA synonymous SNV THAP10:NM_020147:exon1:c.C334A:p.R112R exonic ENSG00000129028 NA synonymous SNV ENSG00000129028:ENST00000249861:exon1:c.C334A:p.R112R NA NA 15q23 NA NA NA NA rs2959174 0.52 0.52 0.523 0.549121 0.4066 0.5823 0.2954 0.7731 0.5389 0.41 0.6 0.31 0.75 0.4612 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0367 NA NA 0.407377 0.708731 NA 0.543 NA 4.3914896 1213 16 29342500 29342500 T A ncRNA_intronic SNX29P2 NA NA NA ncRNA_intronic ENSG00000198106,ENSG00000260413 NA NA NA NA NA 16p11.2 NA NA NA NA rs9745636 0.47 0.47 0.44 0.514776 0.2753 0.6052 0.4813 0.6445 0.5164 0.28 0.59 0.42 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548029 NA NA NA NA NA 0.145 NA 4.3913666 1213 16 29342517 29342517 T G ncRNA_intronic SNX29P2 NA NA NA ncRNA_intronic ENSG00000198106,ENSG00000260413 NA NA NA NA NA 16p11.2 NA NA NA NA rs9745637 0.45 0.45 0.336 0.494209 0.2753 0.6062 0.4798 0.5666 0.5164 0.28 0.59 0.41 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610045 NA NA NA NA NA 0.152 NA 4.3913666 1213 6 150209309 150209309 C G ncRNA_intronic LOC100652739 NA NA NA ncRNA_intronic ENSG00000223701,ENSG00000268592 NA NA NA NA NA 6q25.1 NA Name=p300_(N-15),TBP,AP-2gamma,STAT3,Pol2,AP-2alpha NA NA rs9322228 0.55 0.55 0.537 0.546526 0.4195 0.8859 0.5058 0.4561 0.4785 0.41 0.87 0.51 0.43 0.4604 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.23319 NA NA 0.39553 0.457763 NA 0.587 NA 4.3912366 1213 19 1052005 1052005 C T exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon22:c.C3027T:p.A1009A exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon16:c.C2613T:p.A871A,ENSG00000064687:ENST00000433129:exon21:c.C3027T:p.A1009A,ENSG00000064687:ENST00000263094:exon22:c.C3027T:p.A1009A NA NA 19p13.3 NA NA NA NA rs3764652 0.38 0.38 0.4 0.379393 0.4225 0.3353 0.4107 0.326 0.4305 0.44 0.37 0.43 0.29 0.4256 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92747 NA NA 0.427738 0.350365 NA 0.275 NA 4.3908286 1213 7 29720404 29720404 A G ncRNA_exonic MIR550A3 NA NA NA ncRNA_exonic ENSG00000212024 NA NA NA NA NA 7p14.3 NA NA NA NA rs850108 0.18 0.18 0.103 NA NA NA NA NA NA 0.25 0.05 0.22 0.18 0.2762 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548467 NA NA NA NA NA 0.239 NA 4.3904666 1213 12 93252383 93252383 G T intronic EEA1 NA NA NA ncRNA_exonic ENSG00000258012 NA NA NA Score=821;Name=lod=2881 NA 12q22 NA NA NA NA rs1979804 0.91 0.91 0.898 0.902157 0.9433 0.9623 0.938 0.7769 0.9417 0.94 0.96 0.94 0.79 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430631 NA NA NA NA NA 0.906 NA 4.3900333 1213 15 76020525 76020525 C T ncRNA_exonic DNM1P35 NA NA NA ncRNA_exonic ENSG00000246877 NA NA NA NA NA 15q24.2 NA NA NA NA rs34402412 0.21 0.21 0.176 0.215655 0.2773 0.1815 0.3285 0.1346 0.2168 0.29 0.12 0.28 0.13 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255164 NA NA NA NA NA 0.312 NA 4.3893666 1213 1 158390501 158390501 G A exonic OR10K2 NA synonymous SNV OR10K2:NM_001004476:exon1:c.C156T:p.D52D exonic ENSG00000180708 NA synonymous SNV ENSG00000180708:ENST00000314902:exon1:c.C156T:p.D52D NA NA 1q23.1 NA NA NA NA rs34616883 0.3 0.3 0.304 0.280551 0.4592 0.1687 0.2695 0.2186 0.3037 0.48 0.19 0.29 0.18 0.3799 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.433536 NA NA 0.438256 0.242397 ID=COSM424225;OCCURENCE=1(breast) 0.29 NA 4.3893106 1213 16 88773528 88773528 C A intronic CTU2 NA NA NA UTR5 ENSG00000174177 ENST00000564921:c.-2858C>A NA NA NA NA 16q24.3 NA NA Name=27 NA rs11641194 0.13 0.13 0.121 0.136581 0.2753 0.0288 0.1614 0.0144 0.2526 0.25 0.01 0.19 0.03 0.2211 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082647 NA NA 0.281061 0.056415 NA 0.138 NA 4.3892057 1213 1 37948212 37948212 C G intronic ZC3H12A NA NA NA intronic ENSG00000163874 NA NA NA NA NA 1p34.3 NA NA Name=2 NA rs215205 0.25 0.25 0.271 0.334065 0.3002 0.0585 0.1988 0.5159 0.5031 0.28 0.05 0.23 0.46 0.3109 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818007 NA NA NA NA NA 0.37 NA 4.3889 1213 1 75172001 75172001 T A exonic CRYZ NA synonymous SNV CRYZ:NM_001134759:exon7:c.A558T:p.G186G,CRYZ:NM_001130043:exon8:c.A867T:p.G289G,CRYZ:NM_001889:exon9:c.A969T:p.G323G,CRYZ:NM_001130042:exon10:c.A969T:p.G323G exonic ENSG00000116791 NA synonymous SNV ENSG00000116791:ENST00000370872:exon7:c.A558T:p.G186G,ENSG00000116791:ENST00000370871:exon8:c.A867T:p.G289G,ENSG00000116791:ENST00000340866:exon9:c.A969T:p.G323G,ENSG00000116791:ENST00000417775:exon10:c.A969T:p.G323G NA NA 1p31.1 NA NA NA NA rs7527057 0.26 0.26 0.223 0.216454 0.4592 0.1091 0.3674 0.0348 0.2157 0.44 0.12 0.37 0.05 0.3573 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320188 NA NA 0.46127 0.106673 NA 0.232 NA 4.3888966 1213 6 144835040 144835040 T C intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA Score=654;Name=lod=605 NA 6q24.2 NA NA NA NA rs66905872 0.24 0.24 0.218 0.264776 0.1829 0.1984 0.2925 0.3767 0.2464 0.18 0.2 0.26 0.38 0.2322 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.826039 1.826039 NA 0.196163 0.358148 NA 0.37 NA 4.388737 1213 8 125933052 125933052 T C intergenic MTSS1,LOC157381 dist=192322;dist=21198 NA NA ncRNA_exonic ENSG00000250428 NA NA NA Score=594;Name=lod=345 NA 8q24.13 NA NA NA NA rs17395997 0.53 0.53 0.536 0.539537 0.6113 0.381 0.3963 0.6135 0.6309 0.62 0.39 0.46 0.61 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126681 NA NA NA NA NA 0.457 NA 4.3887 1213 8 99118622 99118622 A C intronic HRSP12 NA NA NA intronic ENSG00000132541 NA NA NA NA NA 8q22.2 NA Name=MafK_(ab50322) NA NA rs2242197 0.24 0.24 0.224 0.212061 0.2942 0.2827 0.2176 0.0575 0.2597 0.3 0.3 0.23 0.09 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.366863 1.366863 NA 0.31741 0.109827 NA 0.174 NA 4.38839 1213 11 65338034 65338034 A G intronic SSSCA1 NA NA NA UTR5 ENSG00000173465 ENST00000531405:c.-133A>G,ENST00000527920:c.-133A>G NA NA NA NA 11q13.1 NA Name=GABP,TAF1,GATA-1,YY1_(C-20),Pol2,ATF3,Mxi1_(bHLH),Max,GTF2F1_(RAP-74),FOXA1_(C-20),ELK4,Sin3Ak-20,Pol2-4H8,YY1,c-Myc,HEY1,TBP,USF-1 NA NA rs1151496 0.29 0.29 0.27 0.298522 0.2565 0.2133 0.1902 0.4675 0.2781 0.25 0.24 0.23 0.45 0.2538 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283719 NA NA 0.267978 0.435484 NA 0.275 NA 4.3883887 1213 1 247348621 247348621 G C intergenic ZNF124,MIR3916 dist=13303;dist=16648 NA NA ncRNA_exonic ENSG00000215795 NA NA NA Score=559;Name=lod=250 NA 1q44 NA NA NA NA rs3820509 0.58 0.58 0.615 0.585863 0.6123 0.4038 0.5317 0.6694 0.6718 0.62 0.43 0.56 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759885 NA NA NA NA NA 0.696 NA 4.3877 1213 20 2618140 2618140 T C exonic TMC2 NA synonymous SNV TMC2:NM_080751:exon19:c.T2406C:p.S802S exonic ENSG00000149488 NA synonymous SNV ENSG00000149488:ENST00000358864:exon19:c.T2406C:p.S802S Score=462;Name=lod=101 NA 20p13 NA NA NA NA rs6083915 0.77 0.77 0.772 0.778954 0.7515 0.8581 0.7983 0.6823 0.8425 0.75 0.86 0.81 0.67 0.7765 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837687 NA NA 0.751047 0.700409 NA 0.732 NA 4.3876196 1213 7 150931268 150931268 C G exonic CHPF2 NA synonymous SNV CHPF2:NM_019015:exon1:c.C171G:p.S57S exonic ENSG00000033100 NA synonymous SNV ENSG00000033100:ENST00000035307:exon1:c.C171G:p.S57S,ENSG00000033100:ENST00000495645:exon2:c.C147G:p.S49S NA NA 7q36.1 NA NA NA NA rs2608293 0.48 0.48 0.451 0.448283 0.4493 0.7183 0.4207 0.3207 0.3609 0.45 0.68 0.44 0.31 0.42 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199469 NA NA 0.409884 0.340445 NA 0.442 NA 4.3874826 1213 5 179734312 179734312 T C intronic GFPT2 NA NA NA intronic ENSG00000131459 NA NA NA NA NA 5q35.3 NA NA Name=5 NA rs3763131 0.21 0.21 0.2 0.218051 0.2147 0.3819 0.219 0.0492 0.2802 0.23 0.35 0.21 0.03 0.2066 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.15127 NA NA 0.191289 0.071858 NA 0.167 NA 4.387411 1213 14 73733410 73733410 A G intronic PAPLN NA NA NA intronic ENSG00000100767 NA NA NA NA NA 14q24.2 NA Name=CTCF NA NA rs909216 0.36 0.36 0.334 0.338259 0.1869 0.6885 0.3833 0.2421 0.2311 0.17 0.67 0.37 0.29 0.2534 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06558 NA NA 0.172791 0.227417 NA 0.29 NA 4.386909 1213 17 27904711 27904711 G A exonic GIT1 NA synonymous SNV GIT1:NM_014030:exon10:c.C933T:p.A311A,GIT1:NM_001085454:exon11:c.C960T:p.A320A exonic ENSG00000108262 NA synonymous SNV ENSG00000108262:ENST00000585148:exon4:c.C216T:p.A72A,ENSG00000108262:ENST00000225394:exon10:c.C933T:p.A311A,ENSG00000108262:ENST00000579937:exon10:c.C933T:p.A311A,ENSG00000108262:ENST00000394869:exon11:c.C960T:p.A320A,ENSG00000108262:ENST00000581348:exon11:c.C960T:p.A320A NA NA 17q11.2 NA NA NA NA rs11080105 0.41 0.41 0.393 0.385982 0.4284 0.6845 0.3876 0.0673 0.4642 0.44 0.69 0.36 0.07 0.421 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317151 1.317151 NA 0.430465 0.129369 NA 0.406 NA 4.3868016 1213 20 44374747 44374747 C T intergenic SPINT4,WFDC3 dist=20412;dist=28100 NA NA ncRNA_exonic ENSG00000226188 NA NA NA Score=479;Name=lod=118 NA 20q13.12 NA NA NA NA rs454402 0.54 0.54 0.507 0.5 0.6133 0.5268 0.6787 0.3525 0.4284 0.64 0.52 0.66 0.34 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384574 NA NA NA NA NA 0.558 NA 4.3867 1213 17 39081713 39081713 A G exonic KRT23 NA synonymous SNV KRT23:NM_015515:exon7:c.T1035C:p.H345H exonic ENSG00000108244 NA synonymous SNV ENSG00000108244:ENST00000436344:exon6:c.T624C:p.H208H,ENSG00000108244:ENST00000209718:exon7:c.T1035C:p.H345H NA NA 17q21.2 NA NA NA NA rs8037 0.55 0.55 0.54 0.570887 0.4056 0.7083 0.6081 0.5643 0.5818 0.4 0.74 0.56 0.55 0.4813 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.441852 NA NA 0.393256 0.534271 NA 0.551 NA 4.3865106 1213 22 38889657 38889657 C T intronic DDX17 NA NA NA intronic ENSG00000100201 NA NA NA NA NA 22q13.1 NA NA Name=12 NA rs2267390 0.29 0.29 0.289 0.254193 0.3042 0.3532 0.1974 0.1634 0.2638 0.32 0.38 0.22 0.18 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091071 NA NA 0.309554 0.175578 NA 0.261 NA 4.386246 1213 16 52689513 52689513 A G intergenic LOC643714,CHD9 dist=48626;dist=399432 NA NA ncRNA_exonic ENSG00000234337 NA NA NA Score=766;Name=lod=1735 NA 16q12.2 NA NA NA NA rs9925027 0.71 0.71 0.686 0.70028 0.6143 0.8274 0.7666 0.6263 0.7106 0.62 0.85 0.72 0.66 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326772 NA NA NA NA NA 0.471 NA 4.3857 1213 20 20037222 20037222 T C intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA Name=EBF NA NA rs1509573 0.72 0.72 0.712 0.701478 0.6143 0.9375 0.755 0.6195 0.6207 0.62 0.94 0.72 0.62 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169397 NA NA NA NA NA 0.667 NA 4.3857 1213 7 106826439 106826439 G A intronic HBP1 NA NA NA intronic ENSG00000105856 NA NA NA NA NA 7q22.3 NA NA Name=14 NA rs7794965 0.15 0.15 0.144 0.141573 0.2018 0.1597 0.121 0.062 0.183 0.21 0.15 0.14 0.05 0.188 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419036 NA NA 0.224556 0.073474 NA 0.072 NA 4.385644 1214 4 154624656 154624656 T C exonic TLR2 NA synonymous SNV TLR2:NM_003264:exon3:c.T597C:p.N199N exonic ENSG00000137462 NA synonymous SNV ENSG00000137462:ENST00000260010:exon1:c.T597C:p.N199N NA NA 4q31.3 NA NA NA NA rs3804099 0.43 0.43 0.445 0.414736 0.4354 0.2827 0.3329 0.6354 0.2894 0.44 0.28 0.35 0.65 0.4113 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074035 NA NA 0.435116 0.610985 NA 0.5 NA 4.3848506 1214 5 29848890 29848890 G A intergenic LSP1P3,CDH6 dist=921470;dist=1344872 NA NA ncRNA_exonic ENSG00000249744 NA NA NA Score=452;Name=lod=92 NA 5p13.3 NA NA NA NA rs10068185 0.37 0.37 0.331 0.348243 0.6153 0.2391 0.3285 0.2073 0.3906 0.62 0.2 0.38 0.19 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751911 NA NA NA NA NA 0.29 NA 4.3847 1214 17 62232073 62232073 A T intronic TEX2 NA NA NA intronic ENSG00000136478 NA NA NA NA NA 17q23.3 NA Name=CTCF NA NA rs4968693 0.6 0.6 0.539 0.566094 0.6153 0.7927 0.768 0.2481 0.5685 0.6 0.82 0.74 0.22 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276568 NA NA NA NA NA 0.478 NA 4.3847 1214 9 132084885 132084885 A G downstream C9orf106 NA NA NA ncRNA_exonic ENSG00000179082 NA NA NA NA NA 9q34.11 NA Name=CTCF NA NA rs913771 0.87 0.87 0.873 0.869209 0.7823 0.9048 0.8934 0.9675 0.772 0.78 0.91 0.87 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460656 NA NA NA NA NA 0.877 NA 4.3843666 1214 7 64254901 64254901 T C UTR5 ZNF138 NM_006524:c.-46T>C,NM_001271649:c.-37161T>C,NM_001160183:c.-46T>C,NM_001271640:c.-46T>C,NM_001271638:c.-20410T>C,NM_001271637:c.-46T>C,NM_001271639:c.-46T>C NA NA UTR5 ENSG00000197008 ENST00000307355:c.-46T>C,ENST00000359735:c.-21094T>C,ENST00000440155:c.-46T>C,ENST00000494380:c.-46T>C,ENST00000437743:c.-20410T>C,ENST00000440598:c.-46T>C NA NA NA NA 7q11.21 NA Name=SETDB1,c-Myc,HEY1,TBP,Pol2(b),Sin3Ak-20,Pol2-4H8,ZNF263,Egr-1,NF-YB,Oct-2,CTCF,POU2F2,E2F4,GABP,E2F6_(H-50),TAF1,TAF7_(SQ-8),BCLAF1_(M33-P5B11),YY1_(C-20),Pol2,Pol2(phosphoS2),TCF4 Name=148 NA rs11983033 0.76 0.76 0.771 0.777556 0.6352 0.8403 0.6772 0.9425 0.7076 0.65 0.82 0.66 0.94 0.6819 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189227 NA NA 0.631992 0.896676 NA 0.667 NA 4.3842414 1214 6 38843426 38843426 C T exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon53:c.C7680T:p.V2560V exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000441566:exon48:c.C6921T:p.V2307V,ENSG00000124721:ENST00000359357:exon51:c.C7029T:p.V2343V,ENSG00000124721:ENST00000327475:exon52:c.C7644T:p.V2548V,ENSG00000124721:ENST00000449981:exon53:c.C7680T:p.V2560V NA NA 6p21.2 NA NA NA NA rs6458080 0.53 0.53 0.519 0.534345 0.3767 0.8333 0.6138 0.3638 0.5624 0.38 0.83 0.57 0.4 0.478 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327234 NA NA 0.42814 0.364957 NA 0.601 NA 4.3838266 1214 10 19340959 19340959 G C intergenic ARL5B,PLXDC2 dist=374019;dist=764413 NA NA ncRNA_exonic ENSG00000226255 NA NA NA Score=674;Name=lod=732 NA 10p12.31 NA NA NA NA rs1934050 0.7 0.7 0.73 0.74381 0.6163 0.749 0.585 0.9054 0.7638 0.63 0.71 0.57 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44476 NA NA NA NA NA 0.623 NA 4.3837 1214 17 10363410 10363410 A G exonic MYH4 NA synonymous SNV MYH4:NM_017533:exon14:c.T1275C:p.N425N exonic ENSG00000264424 NA synonymous SNV ENSG00000264424:ENST00000255381:exon14:c.T1275C:p.N425N NA NA 17p13.1 NA NA NA NA rs3744561 0.52 0.52 0.498 0.535543 0.3708 0.8601 0.5245 0.3442 0.637 0.38 0.87 0.51 0.33 0.4949 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040414 NA NA 0.417442 0.359737 NA 0.594 NA 4.3835246 1214 19 7986685 7986685 G A intronic SNAPC2 NA NA NA intronic ENSG00000104976 NA NA NA NA NA 19p13.2 NA Name=Pol2,ZNF263,USF-1 NA NA rs7250749 0.2 0.2 0.164 0.186102 0.2008 0.0853 0.4193 0.2284 0.0521 0.19 0.1 0.39 0.19 0.2205 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119403 NA NA 0.195278 0.233318 NA 0.174 NA 4.383422 1214 17 7999957 7999957 G A exonic ALOXE3 NA synonymous SNV ALOXE3:NM_001165960:exon16:c.C2520T:p.S840S,ALOXE3:NM_021628:exon16:c.C2124T:p.S708S exonic ENSG00000179148 NA synonymous SNV ENSG00000179148:ENST00000380149:exon15:c.C2592T:p.S864S,ENSG00000179148:ENST00000318227:exon16:c.C2520T:p.S840S,ENSG00000179148:ENST00000448843:exon16:c.C2124T:p.S708S NA NA 17p13.1 NA NA NA NA rs3809881 0.46 0.46 0.41 0.42472 0.4205 0.6022 0.5735 0.2504 0.3763 0.42 0.62 0.56 0.28 0.4464 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146929 NA NA 0.416395 0.274852 ID=COSM437813,COSM1480179;OCCURENCE=1(breast) 0.384 NA 4.3833716 1214 8 12231884 12231884 C T ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000254423 NA NA NA NA NA 8p23.1 NA NA NA NA rs2684056 0.2 0.2 0.203 0.215455 0.2833 0.3036 0.1801 0.0514 0.3016 0.25 0.27 0.19 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66466 NA NA NA NA NA 0.181 NA 4.3833666 1214 15 76032145 76032145 T C ncRNA_intronic DNM1P35 NA NA NA ncRNA_intronic ENSG00000260288 NA NA NA NA NA 15q24.2 NA NA NA NA rs28651447 0.25 0.25 0.197 0.254792 0.2833 0.2371 0.3545 0.2224 0.2168 0.29 0.2 0.32 0.22 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61187 NA NA NA NA NA 0.37 NA 4.3833666 1214 15 76032239 76032239 A G ncRNA_intronic DNM1P35 NA NA NA ncRNA_intronic ENSG00000260288 NA NA NA NA NA 15q24.2 NA NA NA NA rs28688252 0.25 0.25 0.204 0.254792 0.2833 0.2371 0.3545 0.2224 0.2168 0.29 0.2 0.32 0.22 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365821 NA NA NA NA NA 0.37 NA 4.3833666 1214 19 43359785 43359785 T C ncRNA_exonic PSG10P NA NA NA ncRNA_exonic ENSG00000248257 NA NA NA NA NA 19q13.2 NA NA NA NA rs111653171 0.11 0.11 0.08 0.0996406 0.1501 0.003 0.2176 0.0537 0.1258 0.16 0.0017 0.2 0.08 0.1335 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303205 NA NA NA NA NA 0.174 NA 4.3830666 1214 10 105792077 105792077 A G intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q24.33 NA NA Name=6 NA rs805688 0.24 0.24 0.249 0.277756 0.1948 0.1528 0.2406 0.447 0.2894 0.2 0.13 0.23 0.45 0.2263 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586686 NA NA 0.196047 0.383114 NA 0.21 NA 4.382853 1214 1 165533075 165533075 C T ncRNA_UTR3 LRRC52 NA NA NA ncRNA_UTR3 ENSG00000162763 NA NA NA NA NA 1q24.1 NA NA NA NA rs6676948 0.07 0.07 0.072 0.0605032 0.1034 NA 0.0634 0.1074 0.0133 0.1 NA 0.06 0.1 0.0753 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480181 NA NA 0.105116 0.092601 NA 0.058 NA 4.3828506 1214 16 21082168 21082168 C T intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA Name=USF2 NA NA rs704554 0.29 0.29 0.298 0.259185 0.2058 0.4623 0.2118 0.2474 0.1544 0.2 0.47 0.2 0.27 0.2208 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499071 NA NA 0.190698 0.229214 NA 0.217 NA 4.382702 1214 6 106987161 106987161 A G intronic AIM1 NA NA NA intronic ENSG00000112297 NA NA NA NA NA 6q21 NA Name=MafK_(ab50322) NA NA rs783397 0.71 0.71 0.692 0.666933 0.6173 0.877 0.7061 0.587 0.5818 0.62 0.9 0.7 0.63 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730921 NA NA NA NA NA 0.688 NA 4.3827 1214 17 3793843 3793843 T C intronic CAMKK1 NA NA NA intronic ENSG00000004660 NA NA NA NA NA 17p13.2 NA Name=BAF155,ZNF263 NA NA rs11657386 0.67 0.67 0.667 0.666134 0.6173 0.8145 0.6383 0.6044 0.6667 0.62 0.82 0.62 0.61 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550394 NA NA NA NA NA 0.645 NA 4.3827 1214 19 7166109 7166109 A G intronic INSR NA NA NA intronic ENSG00000171105 NA NA NA NA Name=Polycystic ovary syndrome 19p13.2 NA NA NA NA rs2059807 0.55 0.55 0.583 0.614617 0.6173 0.3671 0.4769 0.823 0.683 0.6 0.29 0.49 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36692 NA NA NA NA NA 0.609 NA 4.3827 1214 4 15937526 15937526 G A UTR3 FGFBP1 NM_005130:c.*25C>T NA NA UTR3 ENSG00000137440 ENST00000382333:c.*25C>T,ENST00000259988:c.*25C>T NA NA NA NA 4p15.32 NA NA Name=22 NA rs1042510 0.23 0.23 0.222 0.28774 0.3171 0.0486 0.2608 0.3139 0.4877 0.3 0.05 0.3 0.29 0.3091 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471782 NA NA 0.324651 0.312755 NA 0.362 NA 4.3824824 1214 14 52907353 52907353 C T exonic TXNDC16 NA synonymous SNV TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q exonic ENSG00000087301 NA synonymous SNV ENSG00000087301:ENST00000281741:exon19:c.G1932A:p.Q644Q NA NA 14q22.1 NA NA NA NA rs1952254 0.51 0.51 0.506 0.536542 0.4026 0.7054 0.4308 0.5129 0.6074 0.4 0.66 0.44 0.55 0.4715 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.008686 NA NA 0.410403 0.518611 NA 0.565 NA 4.3821636 1214 3 49719729 49719729 G A intronic APEH NA NA NA intronic ENSG00000164062 NA NA NA NA Name=Ulcerative colitis 3p21.31 NA NA NA NA rs9822268 0.24 0.24 0.217 0.208866 0.3241 0.0565 0.1729 0.2632 0.1994 0.33 0.06 0.23 0.3 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1029 NA NA 0.294192 0.254464 ID=COSN166886;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.312 NA 4.381708 1214 10 96769654 96769654 A G intergenic CYP2C9,CYP2C8 dist=20506;dist=26875 NA NA downstream ENSG00000260863 NA NA NA NA NA 10q23.33 NA Name=MafK_(ab50322) NA NA rs55753924 0.06 0.06 0.048 0.0457268 0.1183 0.001 0.0994 0.0083 0.0297 0.11 0.0035 0.13 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338705 NA NA NA NA NA 0.094 NA 4.3817 1214 18 14147526 14147526 A G intergenic ZNF519,ANKRD20A5P dist=15037;dist=31570 NA NA ncRNA_intronic ENSG00000267324 NA NA NA Score=611;Name=lod=404 NA 18p11.21 NA NA NA NA rs8085145 0.66 0.66 0.617 0.629393 0.6183 0.8433 0.6542 0.5242 0.545 0.61 0.85 0.65 0.51 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285199 NA NA NA NA NA 0.58 NA 4.3817 1214 19 53367338 53367338 G A intergenic ZNF468,ZNF320 dist=6436;dist=12087 NA NA exonic ENSG00000182986 NA nonsynonymous SNV ENSG00000182986:ENST00000597909:exon6:c.C298T:p.R100C NA NA 19q13.41 NA NA NA NA rs4803014 0.14 0.14 0.121 0.116813 0.2594 0.0367 0.1628 0.0408 0.1227 0.23 0.05 0.21 0.04 0.1924 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66977 NA NA NA NA NA 0.225 NA 4.3815334 1214 11 396701 396701 C T intronic PKP3 NA NA NA intronic ENSG00000184363 NA NA NA NA NA 11p15.5 NA Name=CTCF,Rad21,CTCF_(SC-5916),HDAC2_(SC-6296),CTCF_(C-20) Name=65 NA rs11246147 0.43 0.43 0.401 0.446885 0.5467 0.4325 0.4769 0.2897 0.5501 0.53 0.41 0.46 0.26 0.5221 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491468 NA NA 0.549791 0.340091 NA 0.413 NA 4.381409 1214 19 17312992 17312992 C T exonic MYO9B NA synonymous SNV MYO9B:NM_001130065:exon28:c.C4716T:p.V1572V,MYO9B:NM_004145:exon28:c.C4716T:p.V1572V exonic ENSG00000099331 NA synonymous SNV ENSG00000099331:ENST00000397274:exon27:c.C4716T:p.V1572V,ENSG00000099331:ENST00000595641:exon27:c.C4716T:p.V1572V,ENSG00000099331:ENST00000594824:exon28:c.C4716T:p.V1572V,ENSG00000099331:ENST00000595618:exon28:c.C4716T:p.V1572V NA NA 19p13.11 NA NA NA NA rs2305765 0.58 0.58 0.562 0.600439 0.3897 0.746 0.6729 0.5991 0.6176 0.4 0.78 0.64 0.58 0.5004 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910692 NA NA 0.395252 0.54003 NA 0.645 NA 4.3813146 1214 4 2906453 2906453 T G intronic ADD1 NA NA NA intronic ENSG00000087274 NA NA NA NA NA 4p16.3 Score=849;Name=V$HAND1E47_01 NA NA NA rs2239728 0.28 0.28 0.272 0.241414 0.2087 0.4544 0.1758 0.1687 0.2004 0.22 0.51 0.19 0.17 0.2136 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.261872 2.261872 NA 0.196512 0.177712 NA 0.341 NA 4.381188 1214 2 44393609 44393609 G A intergenic LRPPRC,PPM1B dist=170465;dist=2391 NA NA ncRNA_exonic ENSG00000224637 NA NA NA Score=596;Name=lod=351 NA 2p21 NA NA NA NA rs7567874 0.56 0.56 0.519 0.548722 0.6193 0.5585 0.6988 0.3268 0.6595 0.63 0.57 0.71 0.32 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465169 NA NA NA NA NA 0.5 NA 4.3807 1214 9 37477283 37477283 A T intergenic ZBTB5,POLR1E dist=11876;dist=8662 NA NA ncRNA_exonic ENSG00000187988 NA NA NA Score=500;Name=lod=144 NA 9p13.2 NA NA NA NA rs10814542 0.55 0.55 0.533 0.525759 0.6193 0.7083 0.4914 0.2352 0.6585 0.61 0.71 0.53 0.27 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.487499 1.487499 NA NA NA NA 0.572 NA 4.3807 1214 10 82476615 82476615 A T intergenic SH2D4B,NRG3 dist=70299;dist=1158455 NA NA ncRNA_exonic ENSG00000233353 NA NA NA Score=760;Name=lod=1642 NA 10q23.1 NA NA NA NA rs4454661 0.49 0.49 0.512 0.489217 0.6193 0.1905 0.5778 0.5461 0.5235 0.63 0.19 0.6 0.56 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222486 NA NA NA NA NA 0.543 NA 4.3807 1214 12 27059149 27059149 C T intronic ASUN NA NA NA intronic ENSG00000064102 NA NA NA NA NA 12p11.23 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs1488053 0.69 0.69 0.69 0.682308 0.6193 0.9494 0.5749 0.621 0.6309 0.63 0.94 0.54 0.62 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888474 NA NA NA NA NA 0.471 NA 4.3807 1214 17 38188844 38188844 A G intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA Name=3 NA rs7502514 0.63 0.63 0.634 0.64976 0.6193 0.5625 0.6729 0.6747 0.7209 0.62 0.57 0.67 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.045916 NA NA NA NA NA 0.659 NA 4.3807 1214 20 61143364 61143364 T C ncRNA_exonic C20orf166-AS1 NA NA NA ncRNA_exonic ENSG00000174403 NA NA NA NA NA 20q13.33 NA NA NA NA rs12625668 0.3 0.3 0.264 0.28115 0.2863 0.4613 0.3386 0.0862 0.3129 0.3 0.46 0.3 0.13 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265534 NA NA NA NA NA 0.232 NA 4.3803666 1214 12 6127943 6127943 A G exonic VWF NA synonymous SNV VWF:NM_000552:exon28:c.T4641C:p.T1547T exonic ENSG00000110799 NA synonymous SNV ENSG00000110799:ENST00000261405:exon28:c.T4641C:p.T1547T NA NA 12p13.31 NA NA NA NA rs216310 0.7 0.7 0.648 0.776558 0.6014 0.746 0.7752 0.9221 0.7924 0.55 0.71 0.73 0.9 0.6852 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.489708 NA NA NA NA NA 0.739 NA 4.3800666 1214 10 104157711 104157711 T G intronic NFKB2 NA NA NA intronic ENSG00000077150 NA NA NA NA NA 10q24.32 NA Name=CEBPB NA NA rs7897947 0.28 0.28 0.28 0.291334 0.1889 0.3681 0.2104 0.3752 0.2618 0.19 0.36 0.19 0.39 0.2351 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184422 NA NA 0.195985 0.35255 NA 0.275 NA 4.380015 1214 8 30841331 30841331 C T intergenic TEX15,PURG dist=134798;dist=11990 NA NA ncRNA_exonic ENSG00000253793 NA NA NA Score=715;Name=lod=1069 NA 8p12 NA NA NA NA rs2080720 0.77 0.77 0.766 0.738419 0.6203 0.9494 0.7392 0.8215 0.5297 0.63 0.95 0.73 0.8 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106636 NA NA NA NA NA 0.717 NA 4.3797 1214 22 16906273 16906273 A C intergenic OR11H1,CCT8L2 dist=456469;dist=165375 NA NA ncRNA_exonic ENSG00000229658 NA NA NA Score=745;Name=lod=1427 NA 22q11.1 NA NA NA NA rs3876018 0.68 0.68 0.705 0.726438 0.6203 0.7063 0.5648 0.9312 0.6943 0.61 0.69 0.53 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153247 NA NA NA NA NA 0.036 NA 4.3797 1214 7 124387374 124387374 A G exonic GPR37 NA synonymous SNV GPR37:NM_005302:exon2:c.T1047C:p.T349T exonic ENSG00000170775 NA synonymous SNV ENSG00000170775:ENST00000303921:exon2:c.T1047C:p.T349T Score=463;Name=lod=102 NA 7q31.33 NA NA NA NA rs724356 0.74 0.74 0.713 0.71865 0.7565 0.998 0.8242 0.3427 0.8252 0.77 1 0.78 0.37 0.7707 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.208716 NA NA 0.759767 0.431684 NA 0.63 NA 4.3796996 1214 3 49739086 49739086 C T intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA Name=CTCF,Rad21,CTCF_(C-20) Name=17 NA rs1491986 0.6 0.6 0.547 0.585463 0.5249 0.8304 0.6455 0.3737 0.6391 0.54 0.82 0.66 0.42 0.581 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571181 NA NA 0.514535 0.411484 NA 0.638 NA 4.379565 1214 19 35979696 35979696 C T intronic KRTDAP NA NA NA intronic ENSG00000188508 NA NA NA NA NA 19q13.12 NA Name=USF1_(SC-8983),USF-1 NA NA rs10410228 0.13 0.13 0.119 0.122604 0.2227 0.0109 0.111 0.1293 0.1339 0.21 0.01 0.12 0.15 0.1757 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758515 NA NA 0.222209 0.136859 NA 0.13 NA 4.379391 1214 12 123645803 123645803 G A exonic MPHOSPH9 NA synonymous SNV MPHOSPH9:NM_022782:exon18:c.C2805T:p.Y935Y exonic ENSG00000051825 NA synonymous SNV ENSG00000051825:ENST00000302349:exon18:c.C2805T:p.Y935Y,ENSG00000051825:ENST00000392425:exon18:c.C2805T:p.Y935Y,ENSG00000051825:ENST00000541076:exon20:c.C3171T:p.Y1057Y,ENSG00000051825:ENST00000606320:exon22:c.C3261T:p.Y1087Y NA NA 12q24.31 NA NA Name=22 NA rs1051431 0.68 0.68 0.639 0.633187 0.7684 0.9772 0.7262 0.1415 0.7382 0.77 0.98 0.72 0.17 0.7332 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.753235 1.753235 NA 0.785698 0.255561 NA 0.609 NA 4.3793686 1214 7 35208929 35208929 T C ncRNA_intronic DPY19L2P1 NA NA NA ncRNA_exonic ENSG00000236592 NA NA NA NA NA 7p14.2 NA NA NA NA rs142266902 0.2 0.2 0.141 0.208067 0.2873 0.1528 0.2536 0.1596 0.2168 0.24 0.14 0.21 0.18 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230047 NA NA NA NA NA 0.159 NA 4.3793666 1214 5 171800897 171800897 A G intronic SH3PXD2B NA NA NA intronic ENSG00000174705 NA NA NA NA NA 5q35.1 NA NA Name=5 NA rs2731717 0.43 0.43 0.415 0.436302 0.3062 0.6617 0.4481 0.3994 0.3793 0.3 0.63 0.38 0.41 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705263 NA NA 0.314582 0.398121 NA 0.391 NA 4.379218 1214 7 142099512 142099512 T G intergenic LOC730441,MTRNR2L6 dist=127444;dist=274619 NA NA exonic ENSG00000229200 NA nonsynonymous SNV ENSG00000229200:ENST00000390359:exon2:c.A290C:p.K97T NA NA 7q34 NA NA NA NA rs373830246 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4546 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177869 NA 0.15 NA NA NA NA NA 4.3787334 1214 1 79383458 79383458 A T intronic ELTD1 NA NA NA intronic ENSG00000162618 NA NA NA NA NA 1p31.1 NA NA Name=2 NA rs12569007 0.63 0.63 0.589 0.636182 0.6213 0.7044 0.6974 0.5431 0.6636 0.62 0.72 0.69 0.51 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.990185 NA NA NA NA NA 0.638 NA 4.3787 1214 18 21252592 21252592 A G intergenic ANKRD29,LAMA3 dist=9743;dist=16970 NA NA ncRNA_exonic ENSG00000267752 NA NA NA Score=733;Name=lod=1274 NA 18q11.2 NA NA NA NA rs12962228 0.39 0.39 0.375 0.364617 0.6213 0.2103 0.3977 0.2118 0.4427 0.61 0.22 0.44 0.22 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.266498 1.266498 NA NA NA NA 0.457 NA 4.3787 1214 19 49528937 49528937 T C intergenic CGB,SNAR-G2 dist=1305;dist=5989 NA NA ncRNA_exonic ENSG00000267019 NA NA NA Score=505;Name=lod=151 NA 19q13.33 NA NA NA NA rs4802537 0.56 0.56 0.533 0.560304 0.6213 0.3829 0.6383 0.6241 0.5389 0.61 0.37 0.6 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370356 NA NA NA NA NA 0.616 NA 4.3787 1214 3 75386297 75386297 G A intergenic MIR4444-1,FAM86DP dist=122598;dist=84406 NA NA ncRNA_exonic ENSG00000228868 NA NA NA Score=599;Name=lod=362 NA 3p12.3 NA NA NA NA rs6769147 0.45 0.45 0.443 0.414736 0.6223 0.4444 0.4467 0.1369 0.5235 0.62 0.47 0.49 0.15 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92284 NA NA NA NA NA 0.486 NA 4.3777 1214 9 14068852 14068852 G A intergenic LINC00583,NFIB dist=123246;dist=12990 NA NA upstream ENSG00000213954 NA NA NA NA NA 9p23 NA Name=CTCF,Rad21,CTCF_(C-20) NA NA rs73407797 0.14 0.14 0.15 0.159944 0.1223 0.002 0.1268 0.3888 0.0757 0.1 NA 0.1 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061362 NA NA NA NA NA 0.232 NA 4.3777 1214 22 42969877 42969877 G A ncRNA_exonic RRP7B NA NA NA ncRNA_exonic ENSG00000182841 NA NA NA NA NA 22q13.2 NA NA NA NA rs137054 0.56 0.56 0.57 0.583466 0.2893 0.7619 0.366 0.8722 0.4663 0.3 0.72 0.41 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813217 NA NA NA NA NA 0.391 NA 4.3773666 1214 6 32032743 32032743 G A exonic TNXB NA synonymous SNV TNXB:NM_019105:exon19:c.C6696T:p.D2232D exonic ENSG00000168477 NA synonymous SNV ENSG00000168477:ENST00000375244:exon19:c.C6696T:p.D2232D,ENSG00000168477:ENST00000375247:exon19:c.C6696T:p.D2232D NA NA 6p21.33 NA NA NA NA rs204883 0.43 0.43 0.403 0.398762 0.4463 0.4772 0.4697 0.2224 0.4571 0.46 0.48 0.48 0.27 0.4401 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394176 NA NA 0.403543 0.267145 NA 0.471 NA 4.3767236 1214 1 119157490 119157490 A G intergenic SPAG17,TBX15 dist=429642;dist=268176 NA NA ncRNA_exonic ENSG00000226126 NA NA NA Score=838;Name=lod=3396 NA 1p12 NA NA NA NA rs1742856 0.63 0.63 0.633 0.625 0.6233 0.4385 0.6643 0.8306 0.5133 0.62 0.47 0.65 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248209 NA NA NA NA NA 0.79 NA 4.3767 1214 16 77317756 77317756 G A UTR3 ADAMTS18 NM_199355:c.*97C>T NA NA ncRNA_UTR3 ENSG00000140873 NA NA NA NA NA 16q23.1 NA NA NA NA rs889707 0.17 0.17 0.171 0.170927 0.1233 0.2004 0.1167 0.2489 0.1227 0.11 0.17 0.14 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253426 NA NA NA NA NA 0.167 NA 4.3767 1214 19 29282028 29282028 T C intergenic LINC00662,LOC148145 dist=997180;dist=174010 NA NA ncRNA_exonic ENSG00000267799 NA NA NA Score=746;Name=lod=1431 NA 19q12 NA NA NA NA rs7351076 0.43 0.43 0.395 0.438498 0.6233 0.2808 0.5605 0.2065 0.638 0.62 0.27 0.57 0.23 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694321 NA NA NA NA NA 0.413 NA 4.3767 1214 14 55880341 55880341 G C downstream TBPL2 NA NA NA ncRNA_exonic ENSG00000239199 NA NA NA NA NA 14q22.3 NA NA Name=4 NA rs1572610 0.88 0.88 0.884 0.916733 0.7903 1 0.8429 0.9796 0.9284 0.78 1 0.81 0.97 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42451 NA NA NA NA NA 0.913 NA 4.3763666 1214 3 4767262 4767262 T C exonic ITPR1 NA synonymous SNV ITPR1:NM_001168272:exon40:c.T5124C:p.T1708T exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000443694:exon38:c.T5124C:p.T1708T,ENSG00000150995:ENST00000302640:exon40:c.T5124C:p.T1708T,ENSG00000150995:ENST00000354582:exon41:c.T5169C:p.T1723T Score=449;Name=lod=89 NA 3p26.1 NA NA NA NA rs7613447 0.56 0.56 0.562 0.512181 0.7873 0.2649 0.6542 0.4289 0.4959 0.79 0.28 0.68 0.46 0.6893 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543113 NA NA 0.81407 0.481186 NA 0.681 NA 4.3759966 1214 7 37988589 37988589 C T exonic EPDR1 NA synonymous SNV EPDR1:NM_001242948:exon2:c.C234T:p.I78I,EPDR1:NM_017549:exon2:c.C417T:p.I139I exonic ENSG00000086289 NA synonymous SNV ENSG00000086289:ENST00000199448:exon2:c.C417T:p.I139I,ENSG00000086289:ENST00000425345:exon2:c.C234T:p.I78I,ENSG00000086289:ENST00000559325:exon2:c.C777T:p.I259I,ENSG00000086289:ENST00000476620:exon3:c.C111T:p.I37I Score=545;Name=lod=219 NA 7p14.1 NA NA NA NA rs2044831 0.66 0.66 0.626 0.658946 0.7813 0.5933 0.7493 0.5098 0.7382 0.77 0.55 0.76 0.52 0.7415 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.503373 1.503373 NA 0.76814 0.564231 ID=COSM1450599;OCCURENCE=1(large_intestine) 0.725 NA 4.3757266 1214 1 26665991 26665991 C G intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA NA 1p36.11 NA Name=ELF1_(SC-631) NA NA rs6675432 0.48 0.48 0.384 0.478634 0.6243 0.2014 0.4251 0.6218 0.4591 0.62 0.22 0.45 0.6 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187648 NA NA NA NA NA 0.471 NA 4.3757 1214 1 220488972 220488972 A T intergenic RAB3GAP2,MARK1 dist=43129;dist=212596 NA NA upstream ENSG00000230318 NA NA NA Score=678;Name=lod=758 NA 1q41 NA NA NA NA rs1397960 0.22 0.22 0.235 0.227436 0.1243 0.2758 0.1729 0.3457 0.1626 0.12 0.3 0.13 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282167 NA NA NA NA NA 0.261 NA 4.3757 1214 10 120692236 120692236 C T intergenic CACUL1,NANOS1 dist=177478;dist=96992 NA NA ncRNA_exonic ENSG00000213574 NA NA NA Score=468;Name=lod=106 NA 10q26.11 NA NA NA NA rs1831018 0.52 0.52 0.5 0.473442 0.6243 0.5992 0.5749 0.1793 0.5143 0.64 0.58 0.61 0.2 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.60416 1.60416 NA NA NA NA 0.558 NA 4.3757 1214 19 15774975 15774975 G T intergenic CYP4F3,CYP4F12 dist=3405;dist=8853 NA NA ncRNA_intronic ENSG00000267241 NA NA NA Score=346;Name=lod=34 NA 19p13.12 NA NA NA NA rs7252223 0.72 0.72 0.701 0.716054 0.6243 0.8185 0.7291 0.764 0.6309 0.63 0.82 0.71 0.75 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250787 NA NA NA NA NA 0.652 NA 4.3757 1214 12 104044241 104044241 G A intronic STAB2 NA NA NA intronic ENSG00000136011 NA NA NA NA NA 12q23.3 NA NA Name=5 NA rs12829198 0.22 0.22 0.209 0.248203 0.1849 0.2907 0.2248 0.1551 0.4121 0.18 0.31 0.23 0.17 0.24 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.756316 NA NA 0.199651 0.150477 ID=COSN164350;OCCURENCE=1(breast) 0.225 NA 4.375449 1215 17 40010979 40010979 G A exonic KLHL11 NA synonymous SNV KLHL11:NM_018143:exon2:c.C1140T:p.Y380Y exonic ENSG00000178502 NA synonymous SNV ENSG00000178502:ENST00000319121:exon2:c.C1140T:p.Y380Y Score=573;Name=lod=285 NA 17q21.2 NA NA NA NA rs3744782 0.76 0.76 0.755 0.778554 0.7396 0.8313 0.8631 0.7057 0.8027 0.73 0.83 0.83 0.69 0.7823 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315991 NA NA 0.769767 0.726509 NA 0.783 NA 4.3749996 1215 10 30982526 30982526 T G intergenic LYZL2,ZNF438 dist=63879;dist=151039 NA NA ncRNA_exonic ENSG00000234814 NA NA NA Score=566;Name=lod=267 NA 10p11.23 NA NA NA NA rs7068784 0.46 0.46 0.44 0.480032 0.6252 0.3968 0.5144 0.2821 0.6595 0.59 0.41 0.54 0.25 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.600611 2.600611 NA NA NA NA 0.384 NA 4.3748 1215 20 258865 258865 A G intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA Name=2 NA rs6046492 0.7 0.7 0.723 0.691893 0.6252 0.6944 0.513 0.9115 0.5879 0.64 0.7 0.52 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467179 NA NA NA NA NA 0.667 NA 4.3748 1215 6 25726213 25726213 G A upstream;downstream HIST1H2BA;HIST1H2AA NA NA NA upstream;downstream ENSG00000146047;ENSG00000164508 NA NA NA NA NA 6p22.2 NA Name=HEY1 NA NA rs9379785 0.38 0.38 0.331 0.346845 0.2922 0.6815 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558933 NA NA NA NA NA 0.283 NA 4.3744666 1215 7 35209087 35209087 T C ncRNA_intronic DPY19L2P1 NA NA NA ncRNA_exonic ENSG00000236592 NA NA NA NA NA 7p14.2 NA NA NA NA rs112207987 0.23 0.23 0.145 0.215455 0.2922 0.1855 0.2421 0.1589 0.2249 0.29 0.19 0.23 0.21 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146387 NA NA NA NA NA 0.036 NA 4.3744666 1215 2 219266204 219266204 T C intronic CTDSP1 NA NA NA intronic ENSG00000144579 NA NA NA NA NA 2q35 NA NA Name=4 NA rs2252235 0.57 0.57 0.482 0.55012 0.6262 0.7034 0.611 0.2995 0.6094 0.65 0.71 0.62 0.27 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061885 NA NA NA NA NA 0.406 NA 4.3738 1215 3 109635659 109635659 C T intergenic FLJ25363,PVRL3-AS1 dist=421645;dist=1128504 NA NA ncRNA_exonic ENSG00000214380 NA NA NA Score=706;Name=lod=985 NA 3q13.13 NA NA NA NA rs605795 0.61 0.61 0.58 0.623602 0.6262 0.6944 0.5865 0.5333 0.6963 0.62 0.68 0.64 0.48 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729198 NA NA NA NA NA 0.587 NA 4.3738 1215 17 30632274 30632274 G A intronic RHBDL3 NA NA NA intronic ENSG00000141314 NA NA NA NA NA 17q11.2 NA NA Name=3 NA rs16967266 0.44 0.44 0.423 0.412939 0.6262 0.1042 0.4942 0.4554 0.3967 0.64 0.1 0.5 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017795 NA NA NA NA NA 0.442 NA 4.3738 1215 12 53045777 53045777 G A exonic KRT2 NA synonymous SNV KRT2:NM_000423:exon1:c.C150T:p.G50G exonic ENSG00000172867 NA synonymous SNV ENSG00000172867:ENST00000309680:exon1:c.C150T:p.G50G NA NA 12q13.13 NA NA NA NA rs11835758 0.27 0.27 0.259 0.278155 0.4423 0.0437 0.451 0.1233 0.4376 0.44 0.03 0.44 0.16 0.3951 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.153835 NA NA 0.455698 0.168634 NA 0.319 NA 4.3735686 1215 6 25727054 25727054 A G upstream HIST1H2AA,HIST1H2BA NA NA NA upstream ENSG00000146047,ENSG00000164508 NA NA NA NA NA 6p22.2 NA Name=TBP,HEY1,Pol2-4H8,TAF7_(SQ-8),Pol2(b) NA NA rs4711096 0.39 0.39 0.337 0.351637 0.2932 0.6944 0.4366 0.1051 0.3313 0.29 0.75 0.4 0.11 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346144 NA NA NA NA NA 0.29 NA 4.3734666 1215 6 25727057 25727057 C T upstream HIST1H2AA,HIST1H2BA NA NA NA upstream ENSG00000146047,ENSG00000164508 NA NA NA NA NA 6p22.2 NA Name=HEY1,TBP,Pol2(b),Pol2-4H8,TAF7_(SQ-8) NA NA rs4712959 0.38 0.38 0.328 0.347244 0.2932 0.6825 0.4366 0.0976 0.3313 0.29 0.73 0.4 0.1 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235861 NA NA NA NA NA 0.283 NA 4.3734666 1215 6 87606842 87606842 G A intergenic SNHG5,HTR1E dist=1218391;dist=40182 NA NA ncRNA_exonic ENSG00000217769 NA NA NA NA Name=IgG glycosylation 6q14.3 NA NA NA NA rs1853639 0.63 0.63 0.614 0.618411 0.6272 0.5704 0.7061 0.6331 0.5767 0.62 0.56 0.72 0.64 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725463 NA NA NA NA NA 0.551 NA 4.3728 1215 9 126794648 126794648 G A intronic LHX2 NA NA NA ncRNA_exonic ENSG00000234921 NA NA NA NA NA 9q33.3 NA NA Name=10 NA rs28649641 0.2 0.2 0.242 0.183906 0.3539 0.122 0.1527 0.0688 0.2505 0.36 0.11 0.17 0.07 0.2734 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.070083 NA NA 0.333644 0.1102 NA 0.232 NA 4.3723893 1215 2 211074909 211074909 T C intronic ACADL NA NA NA ncRNA_intronic ENSG00000231294 NA NA NA NA Name=Metabolite levels 2q34 NA NA NA NA rs3764913 0.23 0.23 0.219 0.211661 0.3171 0.1865 0.2248 0.0893 0.2853 0.32 0.18 0.28 0.11 0.3018 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170239 NA NA 0.342442 0.150023 NA 0.261 NA 4.3719913 1215 1 19583734 19583734 G A intronic MRTO4 NA NA NA intronic ENSG00000053372 NA NA NA NA NA 1p36.13 NA NA Name=19 NA rs4912057 0.64 0.64 0.608 0.645367 0.6282 0.8254 0.6988 0.4198 0.7444 0.62 0.84 0.69 0.42 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847198 NA NA NA NA NA 0.413 NA 4.3718 1215 4 113377710 113377710 T G intergenic ALPK1,NEUROG2 dist=13946;dist=56962 NA NA ncRNA_exonic ENSG00000248697 NA NA NA Score=682;Name=lod=789 NA 4q25 NA NA NA NA rs231267 0.63 0.63 0.633 0.628594 0.6282 0.6508 0.4986 0.7126 0.5849 0.62 0.66 0.52 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773007 NA NA NA NA NA 0.594 NA 4.3718 1215 22 42969854 42969854 T G ncRNA_exonic RRP7B NA NA NA ncRNA_exonic ENSG00000182841 NA NA NA NA NA 22q13.2 NA NA NA NA rs137053 0.55 0.55 0.57 0.58726 0.2952 0.7649 0.3761 0.8707 0.4714 0.29 0.73 0.41 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3465 NA NA NA NA NA 0.355 NA 4.3714666 1215 2 206921451 206921451 G A exonic INO80D NA synonymous SNV INO80D:NM_017759:exon4:c.C435T:p.T145T exonic ENSG00000114933 NA synonymous SNV ENSG00000114933:ENST00000424117:exon3:c.C120T:p.T40T,ENSG00000114933:ENST00000403263:exon4:c.C435T:p.T145T NA NA 2q33.3 Score=768;Name=V$STAT3_01 NA NA NA rs818009 0.71 0.71 0.691 0.721845 0.7505 0.745 0.7695 0.5514 0.865 0.76 0.76 0.74 0.57 0.7663 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132351 NA NA 0.778997 0.582124 NA 0.79 NA 4.3708696 1215 1 24768778 24768778 G C intronic NIPAL3 NA NA NA intronic ENSG00000001461 NA NA NA NA NA 1p36.11 NA NA Name=2 NA rs4648863 0.74 0.74 0.71 0.735024 0.6292 0.7798 0.7536 0.9054 0.5542 0.64 0.75 0.75 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254618 NA NA NA NA NA 0.659 NA 4.3708 1215 1 191115638 191115638 C T intergenic LOC440704,RGS18 dist=344850;dist=1011954 NA NA ncRNA_exonic ENSG00000228020 NA NA NA Score=577;Name=lod=294 NA 1q31.2 NA NA NA NA rs10753974 0.64 0.64 0.614 0.615815 0.6292 0.6458 0.6354 0.6498 0.5112 0.62 0.66 0.63 0.65 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128361 NA NA NA NA NA 0.543 NA 4.3708 1215 2 210046793 210046793 A G intergenic PTH2R,MAP2 dist=687562;dist=241978 NA NA downstream ENSG00000229670,ENSG00000240286 NA NA NA Score=457;Name=lod=96 NA 2q34 NA NA NA NA rs17676871 0.07 0.07 0.077 0.0625 0.1292 NA 0.0922 0.034 0.0757 0.13 NA 0.11 0.03 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947381 NA NA NA NA NA 0.087 NA 4.3708 1215 11 20596324 20596324 G A intergenic PRMT3,SLC6A5 dist=65445;dist=24622 NA NA ncRNA_exonic ENSG00000255291 NA NA NA Score=702;Name=lod=947 NA 11p15.1 NA NA NA NA rs1975475 0.55 0.55 0.504 0.555112 0.6292 0.6518 0.5965 0.295 0.7014 0.63 0.62 0.59 0.33 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470413 NA NA NA NA NA 0.493 NA 4.3708 1215 11 74842197 74842197 C T intergenic OR2AT4,SLCO2B1 dist=41439;dist=19835 NA NA ncRNA_exonic ENSG00000254475 NA NA NA Score=284;Name=lod=19 NA 11q13.4 NA NA NA NA rs2851097 0.38 0.38 0.367 0.365615 0.6292 0.2679 0.4438 0.0734 0.5348 0.64 0.23 0.45 0.1 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718594 NA NA NA NA NA 0.428 NA 4.3708 1215 19 10793749 10793749 A G intronic ILF3 NA NA NA intronic ENSG00000129351 NA NA NA NA NA 19p13.2 NA NA Name=3 NA rs2738039 0.72 0.72 0.71 0.76857 0.6292 0.7063 0.7911 0.9244 0.7495 0.62 0.65 0.75 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198994 NA NA NA NA NA 0.674 NA 4.3708 1215 3 151531894 151531894 C T ncRNA_UTR5 AADAC NA NA NA ncRNA_UTR5 ENSG00000114771 NA NA NA NA NA 3q25.1 NA NA NA NA rs2293004 0.33 0.33 0.346 0.306909 0.2962 0.3264 0.3646 0.3071 0.2566 0.3 0.33 0.34 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634851 NA NA NA NA NA 0.304 NA 4.3704666 1215 6 32523228 32523228 C T ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs72845704 0.24 0.24 0.13 0.235823 0.2962 0.1935 0.3271 0.1793 0.229 0.3 0.2 0.3 0.17 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455422 NA NA NA NA NA 0.159 NA 4.3704666 1215 17 80890638 80890638 T C intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA Name=c-Fos,STAT3 Name=74 NA rs898095 0.55 0.55 0.512 0.541733 0.5835 0.6637 0.5101 0.4206 0.5593 0.56 0.65 0.56 0.43 0.5305 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628529 NA NA 0.515573 0.413065 NA 0.58 NA 4.370427 1215 15 76067911 76067911 A G intergenic MIR4313,UBE2Q2 dist=13255;dist=67711 NA NA ncRNA_exonic ENSG00000187812 NA NA NA NA NA 15q24.2 NA Name=TAF1,Pol2,TCF4,HEY1,TBP,IRF1,Pol2-4H8 NA NA rs12101948 0.32 0.32 0.28 0.315495 0.3082 0.3026 0.3862 0.3336 0.2618 0.32 0.28 0.36 0.32 0.3215 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057065 NA NA NA NA ID=COSN164993;OCCURENCE=1(breast) 0.37 NA 4.3703 1215 1 210577873 210577873 G C exonic HHAT NA synonymous SNV HHAT:NM_001170587:exon5:c.G537C:p.L179L,HHAT:NM_001170588:exon5:c.G339C:p.L113L,HHAT:NM_001122834:exon6:c.G534C:p.L178L,HHAT:NM_001170580:exon6:c.G534C:p.L178L,HHAT:NM_018194:exon6:c.G534C:p.L178L exonic ENSG00000054392 NA synonymous SNV ENSG00000054392:ENST00000426968:exon3:c.G150C:p.L50L,ENSG00000054392:ENST00000545781:exon4:c.G345C:p.L115L,ENSG00000054392:ENST00000308852:exon5:c.G399C:p.L133L,ENSG00000054392:ENST00000537898:exon5:c.G339C:p.L113L,ENSG00000054392:ENST00000545154:exon5:c.G537C:p.L179L,ENSG00000054392:ENST00000261458:exon6:c.G534C:p.L178L,ENSG00000054392:ENST00000367010:exon6:c.G534C:p.L178L,ENSG00000054392:ENST00000391905:exon6:c.G534C:p.L178L,ENSG00000054392:ENST00000413764:exon6:c.G534C:p.L178L Score=558;Name=lod=246 NA 1q32.2 NA NA NA NA rs2066721 0.76 0.76 0.759 0.759984 0.7634 0.628 0.8444 0.8517 0.7086 0.78 0.64 0.8 0.86 0.7706 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.945567 NA NA 0.762442 0.811167 NA 0.754 NA 4.3702246 1215 11 122678911 122678911 C T intronic UBASH3B NA NA NA intronic ENSG00000154127 NA NA NA NA NA 11q24.1 NA NA Name=18 NA rs2276408 0.21 0.21 0.202 0.208466 0.2217 0.1042 0.3184 0.2345 0.1892 0.2 0.13 0.33 0.24 0.2113 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504328 NA NA 0.197139 0.245459 NA 0.232 NA 4.369861 1215 4 48486193 48486193 C G intronic SLC10A4 NA NA NA intronic ENSG00000145248 NA NA NA NA NA 4p11 NA Name=GATA-2 NA NA rs6845250 0.16 0.16 0.165 0.159944 0.2167 0.1171 0.1124 0.1679 0.1687 0.22 0.1 0.1 0.19 0.1929 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.404747 1.404747 NA 0.220698 0.177712 NA 0.188 NA 4.369702 1215 8 143960597 143960597 G A exonic CYP11B1 NA synonymous SNV CYP11B1:NM_000497:exon2:c.C246T:p.D82D,CYP11B1:NM_001026213:exon2:c.C246T:p.D82D exonic ENSG00000160882 NA synonymous SNV ENSG00000160882:ENST00000292427:exon2:c.C246T:p.D82D,ENSG00000160882:ENST00000517471:exon2:c.C246T:p.D82D,ENSG00000160882:ENST00000377675:exon3:c.C381T:p.D127D NA NA 8q24.3 NA NA NA NA rs5283 0.32 0.32 0.311 0.302716 0.4602 0.3115 0.4582 0.0356 0.3824 0.46 0.32 0.41 0.04 0.3979 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250844 NA NA 0.439302 0.111666 NA 0.312 NA 4.3692646 1215 11 11292864 11292864 C T intronic GALNT18 NA NA NA intronic ENSG00000110328 NA NA NA Score=272;Name=lod=17 NA 11p15.3 NA NA NA NA rs12282401 0.2 0.2 0.168 0.174521 0.2187 0.2391 0.2291 0.0719 0.1626 0.22 0.23 0.22 0.1 0.2015 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.263637 2.263637 NA 0.210643 0.105407 NA 0.181 NA 4.369157 1215 13 82264343 82264343 A G intergenic SPRY2,NONE dist=1349257;dist=NONE NA NA ncRNA_exonic ENSG00000214182 NA NA NA Score=426;Name=lod=72 NA 13q31.1 NA NA NA NA rs7326041 0.6 0.6 0.597 0.626997 0.6312 0.4583 0.6585 0.6399 0.7566 0.63 0.46 0.69 0.64 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509602 NA NA NA NA NA 0.58 NA 4.3688 1215 14 33165182 33165182 C T intronic AKAP6 NA NA NA intronic ENSG00000151320 NA NA NA Score=816;Name=lod=2769 NA 14q12 Score=952;Name=V$GATA_C NA NA NA rs3742929 0.68 0.68 0.672 0.721446 0.5 0.8284 0.6931 0.8185 0.728 0.51 0.82 0.67 0.79 0.6117 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.050777 2.050777 NA 0.519884 0.768951 NA 0.616 NA 4.368416 1215 6 158923434 158923434 G C exonic TULP4 NA synonymous SNV TULP4:NM_020245:exon13:c.G2739C:p.T913T exonic ENSG00000130338 NA synonymous SNV ENSG00000130338:ENST00000367097:exon13:c.G2739C:p.T913T Score=509;Name=lod=156 NA 6q25.3 NA NA NA NA rs9364968 0.82 0.82 0.798 0.827077 0.7525 0.8869 0.8934 0.7912 0.8436 0.76 0.88 0.9 0.81 0.7872 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244284 NA NA 0.758953 0.80867 NA 0.493 NA 4.3680136 1215 2 171912911 171912911 A T intronic TLK1 NA NA NA intronic ENSG00000198586 NA NA NA NA NA 2q31.1 NA NA Name=36 NA rs17283147 0.65 0.65 0.64 0.663139 0.6322 0.9524 0.7104 0.2995 0.8548 0.65 0.94 0.65 0.31 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740433 NA NA NA NA NA 0.587 NA 4.3678 1215 9 30689856 30689856 C T intergenic LOC401497,ACO1 dist=281404;dist=1694745 NA NA ncRNA_exonic ENSG00000215210 NA NA NA Score=776;Name=lod=1901 NA 9p21.1 NA NA NA NA rs12378799 0.3 0.3 0.27 0.378794 0.6322 0.2659 0.562 0.0514 0.547 0.44 0.25 0.39 0.06 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.57197 NA NA NA NA NA 0.333 NA 4.3678 1215 1 26526554 26526554 G A intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA Score=313;Name=lod=25 NA 1p36.11 NA NA NA NA rs6700024 0.18 0.18 0.181 0.191494 0.2247 0.0208 0.1427 0.3548 0.1472 0.24 0.02 0.16 0.31 0.2024 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025247 NA NA 0.205349 0.315252 NA 0.196 NA 4.367551 1215 1 47154272 47154272 C T ncRNA_intronic EFCAB14-AS1 NA NA NA ncRNA_intronic ENSG00000228237 NA NA NA NA NA 1p33 NA NA NA NA rs2304745 0.29 0.29 0.255 0.254593 0.2992 0.3353 0.3545 0.1316 0.2209 0.28 0.33 0.37 0.19 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570742 NA NA NA NA NA 0.196 NA 4.3674666 1215 1 109737090 109737090 G A exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267049:exon7:c.G945A:p.P315P,KIAA1324:NM_001267048:exon13:c.G1734A:p.P578P,KIAA1324:NM_020775:exon15:c.G1995A:p.P665P exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000529753:exon13:c.G1734A:p.P578P,ENSG00000116299:ENST00000457623:exon14:c.G1845A:p.P615P,ENSG00000116299:ENST00000369939:exon15:c.G1995A:p.P665P NA NA 1p13.3 NA NA Name=22 NA rs2359245 0.73 0.73 0.697 0.715256 0.7634 0.9702 0.7954 0.3101 0.8937 0.78 0.97 0.79 0.33 0.7772 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424724 NA NA 0.758605 0.371312 NA 0.754 NA 4.3674616 1215 1 109737172 109737172 C T exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267049:exon7:c.C1027T:p.L343L,KIAA1324:NM_001267048:exon13:c.C1816T:p.L606L,KIAA1324:NM_020775:exon15:c.C2077T:p.L693L exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000529753:exon13:c.C1816T:p.L606L,ENSG00000116299:ENST00000457623:exon14:c.C1927T:p.L643L,ENSG00000116299:ENST00000369939:exon15:c.C2077T:p.L693L Score=551;Name=lod=232 NA 1p13.3 NA NA NA NA rs2359243 0.73 0.73 0.714 0.714058 0.7634 0.9702 0.7968 0.3048 0.8937 0.78 0.97 0.79 0.33 0.7772 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053406 NA NA 0.758953 0.368588 NA 0.761 NA 4.3671136 1215 22 50303533 50303533 C G intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs9616368 0.23 0.23 0.23 0.265575 0.2038 0.1081 0.1383 0.4054 0.3926 0.21 0.12 0.15 0.42 0.2238 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120184 NA NA 0.205581 0.351112 NA 0.341 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082165.1;CLNDSDB=.;CLNDSDBID=. 4.366819 1215 22 50303530 50303530 T C intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs9616204 0.23 0.23 0.223 0.265575 0.2038 0.1081 0.1383 0.4054 0.3926 0.21 0.12 0.15 0.42 0.2237 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780771 NA NA 0.205698 0.350885 NA 0.341 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082164.1;CLNDSDB=.;CLNDSDBID=. 4.366802 1215 3 42363951 42363951 A G intergenic CCK,LYZL4 dist=56289;dist=74624 NA NA ncRNA_exonic ENSG00000231280 NA NA NA Score=440;Name=lod=82 NA 3p22.1 NA NA NA NA rs566271 0.51 0.51 0.451 0.469449 0.6332 0.504 0.5994 0.2595 0.4571 0.62 0.47 0.62 0.3 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303552 NA NA NA NA NA 0.572 NA 4.3668 1215 10 91738755 91738755 T C intergenic LINC00865,HTR7 dist=138137;dist=761821 NA NA ncRNA_exonic ENSG00000228938 NA NA NA Score=647;Name=lod=566 NA 10q23.31 NA NA NA NA rs10881718 0.79 0.79 0.781 0.830871 0.6332 0.998 0.7997 0.8169 0.9029 0.65 1 0.77 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722469 NA NA NA NA NA 0.703 NA 4.3668 1215 4 185480256 185480256 T G intergenic IRF2,CASP3 dist=84530;dist=68594 NA NA downstream ENSG00000249056 NA NA NA NA NA 4q35.1 NA NA Name=2 NA rs6849894 0.25 0.25 0.243 0.28095 0.1332 0.2877 0.121 0.4985 0.2454 0.13 0.28 0.13 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01972 NA NA NA NA NA 0.268 NA 4.3668 1215 12 993930 993930 C T exonic WNK1 NA synonymous SNV WNK1:NM_014823:exon17:c.C3219T:p.N1073N,WNK1:NM_001184985:exon19:c.C4740T:p.N1580N,WNK1:NM_018979:exon19:c.C3960T:p.N1320N,WNK1:NM_213655:exon19:c.C4716T:p.N1572N exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000340908:exon16:c.C2739T:p.N913N,ENSG00000060237:ENST00000535572:exon17:c.C3219T:p.N1073N,ENSG00000060237:ENST00000315939:exon19:c.C3960T:p.N1320N,ENSG00000060237:ENST00000537687:exon19:c.C4740T:p.N1580N,ENSG00000060237:ENST00000530271:exon21:c.C5454T:p.N1818N NA NA 12p13.33 NA NA NA NA rs7300444 0.44 0.44 0.4 0.398962 0.4404 0.5377 0.428 0.2685 0.3691 0.44 0.53 0.45 0.31 0.4192 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015518 NA NA 0.440349 0.296641 NA 0.304 NA 4.3667176 1215 11 1861912 1861912 G A intronic TNNI2 NA NA NA intronic ENSG00000130598 NA NA NA NA NA 11p15.5 NA NA NA NA rs2271441 0.13 0.13 0.156 0.134585 0.2197 0.0575 0.121 0.0908 0.1953 0.2 0.07 0.14 0.1 0.1858 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401357 NA NA 0.227866 0.099681 NA 0.123 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000128664.1;CLNDSDB=.;CLNDSDBID=. 4.366634 1215 6 33096766 33096766 A G ncRNA_intronic HLA-DPB2 NA NA NA ncRNA_intronic ENSG00000224557 NA NA NA NA NA 6p21.32 NA NA NA NA rs3117004 0.28 0.28 0.248 0.274561 0.3002 0.4425 0.2853 0.0756 0.3364 0.29 0.44 0.25 0.09 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187923 NA NA NA NA NA 0.188 NA 4.3664666 1215 7 72297549 72297549 G A exonic TYW1B NA unknown UNKNOWN ncRNA_exonic ENSG00000254184 NA NA NA NA NA 7q11.23 NA NA NA NA rs73131518 0.1 0.1 0.093 0.0942492 0.167 NA 0.111 0.1074 0.0869 0.16 NA 0.13 0.1 0.1317 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594262 NA 0.1 0.168448 0.115607 NA 0.094 NA 4.3661853 1215 21 45978488 45978488 G A exonic KRTAP10-3 NA synonymous SNV KRTAP10-3:NM_198696:exon1:c.C111T:p.C37C exonic ENSG00000212935 NA synonymous SNV ENSG00000212935:ENST00000391620:exon1:c.C111T:p.C37C NA NA 21q22.3 NA NA NA NA rs12483390 0.24 0.24 0.16 0.252995 0.4642 0.128 0.2363 0.0893 0.3978 0.42 0.1 0.26 0.12 0.3741 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.951989 NA NA 0.46232 0.125349 NA 0.312 NA 4.3660466 1215 15 101114418 101114418 G A exonic LINS NA synonymous SNV LINS:NM_001040616:exon5:c.C660T:p.F220F exonic ENSG00000140471 NA synonymous SNV ENSG00000140471:ENST00000314742:exon5:c.C660T:p.F220F,ENSG00000140471:ENST00000560133:exon5:c.C303T:p.F101F,ENSG00000140471:ENST00000561308:exon5:c.C660T:p.F220F NA NA 15q26.3 NA NA NA NA rs8039437 0.33 0.33 0.326 0.314297 0.4513 0.246 0.2493 0.2481 0.3793 0.46 0.25 0.29 0.27 0.3867 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.210424 NA NA 0.462737 0.274112 NA 0.377 NA 4.3659296 1215 15 90273040 90273040 C G intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA Name=2 NA rs16943559 0.18 0.18 0.188 0.189097 0.2147 0.001 0.1542 0.3238 0.1994 0.21 0.0017 0.18 0.34 0.2011 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792326 NA NA 0.218307 0.318409 NA 0.254 NA 4.365893 1215 6 29913171 29913171 G A intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs2975057 0.68 0.68 0.673 0.686502 0.6342 0.6885 0.7752 0.73 0.6166 0.61 0.72 0.74 0.71 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654008 NA NA NA NA NA 0.558 NA 4.3658 1215 14 107170005 107170005 T C intergenic LINC00221,NONE dist=218476;dist=NONE NA NA exonic ENSG00000211973 NA nonsynonymous SNV ENSG00000211973:ENST00000390633:exon2:c.A277G:p.K93E NA NA 14q32.33 NA NA Name=5 NA rs1141720 NA NA 0.521 0.496805 0.501 0.4891 0.5274 0.6188 0.3139 NA NA NA NA 0.4755 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830639 NA 1 0.491312 0.613571 NA 0.58 NA 4.3655214 1216 11 117209268 117209268 C T intronic CEP164 NA NA NA intronic ENSG00000110274 NA NA NA NA NA 11q23.3 NA NA Name=6 NA rs573801 0.2 0.2 0.199 0.217652 0.1909 0.1171 0.268 0.2625 0.2526 0.18 0.11 0.26 0.29 0.2231 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.387143 1.387143 NA 0.221252 0.278055 NA 0.188 NA 4.364748 1216 3 10081545 10081545 G C intronic FANCD2 NA NA NA exonic ENSG00000144554 NA synonymous SNV ENSG00000144554:ENST00000431693:exon8:c.G711C:p.L237L NA NA 3p25.3 NA NA NA NA rs17032283 0.18 0.18 0.19 0.182109 0.1392 0.0486 0.1614 0.3623 0.135 0.15 0.07 0.18 0.38 0.1659 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475388 NA NA 0.163605 0.321153 NA 0.348 NA 4.3646283 1216 2 158636910 158636910 G A exonic ACVR1 NA synonymous SNV ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A exonic ENSG00000115170 NA synonymous SNV ENSG00000115170:ENST00000409283:exon3:c.C270T:p.A90A,ENSG00000115170:ENST00000263640:exon4:c.C270T:p.A90A,ENSG00000115170:ENST00000434821:exon4:c.C270T:p.A90A,ENSG00000115170:ENST00000410057:exon5:c.C270T:p.A90A NA NA 2q24.1 Score=896;Name=V$NF1_Q6 NA NA NA rs2227861 0.68 0.68 0.641 0.650958 0.7793 0.9067 0.7666 0.1838 0.8047 0.77 0.9 0.76 0.21 0.7502 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184992 NA NA 0.772674 0.276895 NA 0.594 NA 4.3644926 1216 8 56364648 56364648 G A ncRNA_exonic SBF1P1 NA NA NA ncRNA_exonic ENSG00000248522 NA NA NA NA NA 8q12.1 NA NA NA NA rs2975984 0.19 0.19 0.178 0.186102 0.3022 0.123 0.1787 0.1324 0.2096 0.29 0.1 0.2 0.14 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352017 NA NA NA NA NA 0.167 NA 4.3644666 1216 6 148761603 148761603 C A intronic SASH1 NA NA NA UTR3 ENSG00000111961 ENST00000367469:c.*56C>A NA NA NA NA 6q24.3 NA NA Name=3 NA rs9498038 0.41 0.41 0.382 0.467851 0.4076 0.3978 0.428 0.4092 0.7096 0.41 0.39 0.41 0.41 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920353 NA NA 0.39472 0.421243 NA 0.399 NA 4.3643467 1216 3 27353716 27353716 C A intronic NEK10 NA NA NA intronic ENSG00000163491 NA NA NA NA NA 3p24.1 NA Name=CTCF_(C-20),Rad21,CTCF,RFX5_(N-494),CTCF_(SC-5916),SMC3_(ab9263) Name=141 NA rs552647 0.56 0.56 0.597 0.597843 0.5328 0.2659 0.6124 0.9705 0.4928 0.53 0.23 0.64 0.96 0.5611 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644388 NA NA 0.542016 0.896684 NA 0.616 NA 4.364084 1216 3 58196639 58196639 C T UTR5 DNASE1L3 NM_004944:c.-6G>A,NM_001256560:c.-6G>A NA NA UTR5 ENSG00000163687 ENST00000486455:c.-6G>A,ENST00000318316:c.-6G>A,ENST00000483681:c.-6G>A,ENST00000394549:c.-6G>A,ENST00000461914:c.-6G>A,ENST00000460422:c.-6G>A NA NA NA NA 3p14.3 NA NA Name=15 NA rs2292677 0.3 0.3 0.311 0.272764 0.3161 0.3532 0.3516 0.1536 0.2505 0.33 0.36 0.33 0.16 0.3192 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222669 NA NA 0.334186 0.183613 NA 0.391 NA 4.3638474 1216 20 44120066 44120066 T C intergenic WFDC2,SPINT3 dist=9894;dist=21035 NA NA ncRNA_exonic ENSG00000237068 NA NA NA Score=784;Name=lod=2044 NA 20q13.12 NA NA NA NA rs6065824 0.55 0.55 0.545 0.543131 0.6362 0.4643 0.6138 0.5068 0.5276 0.65 0.49 0.56 0.48 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183101 NA NA NA NA NA 0.659 NA 4.3638 1216 8 22481449 22481449 A G exonic BIN3 NA synonymous SNV BIN3:NM_018688:exon8:c.T594C:p.F198F exonic ENSG00000147439 NA synonymous SNV ENSG00000147439:ENST00000399977:exon6:c.T450C:p.F150F,ENSG00000147439:ENST00000519513:exon6:c.T432C:p.F144F,ENSG00000147439:ENST00000276416:exon8:c.T594C:p.F198F NA NA 8p21.3 NA NA NA NA rs1871900 0.46 0.46 0.454 0.497204 0.4394 0.3978 0.3977 0.6067 0.5818 0.43 0.42 0.41 0.57 0.4476 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456207 NA NA 0.416084 0.54154 NA 0.442 NA 4.3635826 1216 6 132785224 132785224 A C intronic STX7 NA NA NA intronic ENSG00000079950 NA NA NA Score=251;Name=lod=14 NA 6q23.2 NA NA NA NA rs3757299 0.21 0.21 0.206 0.207468 0.2048 0.1538 0.1916 0.2209 0.2587 0.2 0.19 0.17 0.26 0.2144 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653581 NA NA 0.217558 0.219473 NA 0.116 NA 4.363242 1216 11 6865758 6865758 T C intergenic OR6A2,OR10A5 dist=48619;dist=1156 NA NA ncRNA_exonic ENSG00000254712 NA NA NA Score=329;Name=lod=29 NA 11p15.4 NA NA NA NA rs2595437 0.61 0.61 0.598 0.597444 0.6372 0.6389 0.5 0.6127 0.5624 0.64 0.64 0.54 0.6 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367573 NA NA NA NA NA 0.638 NA 4.3628 1216 13 53774627 53774627 A G intergenic OLFM4,LINC00558 dist=148431;dist=614927 NA NA ncRNA_exonic ENSG00000225510 NA NA NA NA NA 13q14.3 Score=736;Name=V$HOX13_01 NA NA NA rs2004422 0.77 0.77 0.734 0.801917 0.6382 0.8393 0.7651 0.9478 0.7607 0.63 0.84 0.72 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623629 NA NA NA NA NA 0.797 NA 4.3618 1216 15 101109893 101109893 C A exonic LINS NA synonymous SNV LINS:NM_001040616:exon7:c.G1824T:p.G608G exonic ENSG00000140471 NA synonymous SNV ENSG00000140471:ENST00000314742:exon7:c.G1824T:p.G608G NA NA 15q26.3 NA NA NA NA rs6598356 0.33 0.33 0.339 0.311701 0.4513 0.247 0.2493 0.2375 0.3793 0.46 0.25 0.29 0.25 0.3848 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178847 NA NA 0.469302 0.282796 NA 0.377 NA 4.3612646 1216 6 29976842 29976842 T G ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs9261113 0.2 0.2 0.158 0.205072 0.1292 0.1915 0.1888 0.3011 0.1789 0.13 0.2 0.22 0.3 0.1764 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414903 NA NA NA NA NA 0.188 NA 4.3610666 1216 8 24366020 24366020 T C intronic ADAM7 NA NA NA ncRNA_intronic ENSG00000253535,ENSG00000253643 NA NA NA NA NA 8p21.2 NA Name=YY1_(C-20) NA NA rs2290150 0.28 0.28 0.258 0.292133 0.3052 0.1905 0.438 0.1974 0.408 0.31 0.2 0.42 0.21 0.3335 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363666 NA NA 0.333837 0.21675 NA 0.21 NA 4.3607963 1216 19 55048270 55048270 C T ncRNA_exonic KIR3DX1 NA NA NA exonic ENSG00000104970 NA synonymous SNV ENSG00000104970:ENST00000221567:exon5:c.C837T:p.N279N,ENSG00000104970:ENST00000335056:exon5:c.C837T:p.N279N NA NA 19q13.42 NA NA NA NA rs17606836 0.22 0.22 0.192 0.217053 0.2793 0.1905 0.2061 0.146 0.2843 0.28 0.2 0.23 0.11 0.2559 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560072 NA NA 0.270984 0.132051 NA 0.246 NA 4.3604826 1216 1 103354428 103354428 A G exonic COL11A1 NA synonymous SNV COL11A1:NM_080630:exon58:c.T4164C:p.G1388G,COL11A1:NM_001190709:exon59:c.T4395C:p.G1465G,COL11A1:NM_001854:exon60:c.T4512C:p.G1504G,COL11A1:NM_080629:exon60:c.T4548C:p.G1516G exonic ENSG00000060718 NA synonymous SNV ENSG00000060718:ENST00000512756:exon58:c.T4164C:p.G1388G,ENSG00000060718:ENST00000353414:exon59:c.T4395C:p.G1465G,ENSG00000060718:ENST00000358392:exon60:c.T4548C:p.G1516G,ENSG00000060718:ENST00000370096:exon60:c.T4512C:p.G1504G Score=545;Name=lod=218 NA 1p21.1 NA NA NA NA rs1763347 0.68 0.68 0.641 0.622604 0.8042 0.746 0.8401 0.2587 0.6462 0.81 0.77 0.82 0.29 0.7239 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764344 NA NA 0.778256 0.319791 ID=COSM423331,COSM423330;OCCURENCE=1(breast) 0.543 NA 4.3603106 1216 20 3299054 3299054 T C intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA Name=29 NA rs6139071 0.24 0.24 0.256 0.23722 0.2187 0.1657 0.1859 0.3759 0.1789 0.22 0.19 0.15 0.39 0.2105 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256513 NA NA 0.210635 0.358535 NA 0.283 NA 4.360165 1216 11 134147371 134147371 G A intronic GLB1L3 NA NA NA intronic ENSG00000166105 NA NA NA NA NA 11q25 NA NA Name=4 NA rs67473835 0.24 0.24 0.177 0.258387 0.1899 0.3919 0.2695 0.1346 0.3507 0.19 0.35 0.28 0.14 0.2501 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.314871 1.314871 NA 0.199874 0.17341 NA 0.217 NA 4.360126 1216 10 30978377 30978377 G C intergenic LYZL2,ZNF438 dist=59730;dist=155188 NA NA ncRNA_exonic ENSG00000234814 NA NA NA Score=595;Name=lod=349 NA 10p11.23 NA NA NA NA rs10763815 NA NA 0.411 0.55012 0.6402 0.4583 0.5807 0.4327 0.6892 NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.251137 1.251137 NA NA NA NA 0.399 NA 4.3598 1216 11 20596656 20596656 T A intergenic PRMT3,SLC6A5 dist=65777;dist=24290 NA NA downstream ENSG00000255291 NA NA NA Score=695;Name=lod=889 NA 11p15.1 NA NA NA NA rs73441914 0.1 0.1 0.096 0.0966454 0.1402 0.001 0.0965 0.1483 0.0808 0.13 NA 0.11 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.806799 NA NA NA NA NA 0.065 NA 4.3598 1216 6 7572262 7572262 A G exonic DSP NA synonymous SNV DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G exonic ENSG00000096696 NA synonymous SNV ENSG00000096696:ENST00000379802:exon15:c.A2091G:p.G697G,ENSG00000096696:ENST00000418664:exon15:c.A2091G:p.G697G NA NA 6p24.3 NA NA NA NA rs2076304 0.79 0.79 0.813 0.774361 0.7664 0.8026 0.7925 0.823 0.6748 0.75 0.84 0.77 0.81 0.7614 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556164 NA NA 0.779535 0.79823 NA 0.761 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038004.1;CLNDSDB=.;CLNDSDBID=. 4.3593316 1216 1 76344711 76344711 A T exonic MSH4 NA synonymous SNV MSH4:NM_002440:exon12:c.A1575T:p.L525L exonic ENSG00000057468 NA synonymous SNV ENSG00000057468:ENST00000263187:exon12:c.A1575T:p.L525L Score=604;Name=lod=379 NA 1p31.1 NA NA NA NA rs5745449 0.8 0.8 0.802 0.792732 0.7515 0.9851 0.7781 0.6846 0.7935 0.77 0.99 0.76 0.66 0.7963 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976786 NA NA 0.759828 0.705856 NA 0.768 NA 4.3590386 1216 17 41251931 41251931 G A intronic BRCA1 NA NA NA intronic ENSG00000012048 NA NA NA NA NA 17q21.31 NA NA NA NA rs799923 0.1 0.1 0.085 0.0986422 0.2266 NA 0.1167 0.0098 0.1759 0.22 NA 0.12 0.01 0.1738 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063107 NA NA 0.240698 0.048797 NA 0.159 CLINSIG=untested;CLNDBN=Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=not;CLNACC=RCV000112677.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145 4.358902 1216 1 228431930 228431930 C T intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA Name=KAP1 NA NA rs10916293 0.63 0.63 0.608 0.616813 0.6412 0.5982 0.6527 0.711 0.4581 0.63 0.59 0.64 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063398 NA NA NA NA ID=COSN163462;OCCURENCE=1(breast) 0.609 NA 4.3588 1216 3 75388161 75388161 T C intergenic MIR4444-1,FAM86DP dist=124462;dist=82542 NA NA ncRNA_exonic ENSG00000228868 NA NA NA Score=517;Name=lod=168 NA 3p12.3 NA NA NA NA rs6765044 0.47 0.47 0.419 0.428115 0.6412 0.4643 0.4827 0.1203 0.5491 0.64 0.5 0.52 0.13 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.09558 2.09558 NA NA NA NA 0.493 NA 4.3588 1216 7 11860937 11860937 G A intronic THSD7A NA NA NA intronic ENSG00000005108 NA NA NA Score=549;Name=lod=228 NA 7p21.3 NA NA NA NA rs7807756 0.62 0.62 0.611 0.624201 0.6412 0.628 0.7435 0.5045 0.68 0.63 0.65 0.72 0.51 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179314 NA NA NA NA NA 0.674 NA 4.3588 1216 19 17885270 17885270 A G exonic FCHO1 NA synonymous SNV FCHO1:NM_001161359:exon11:c.A753G:p.P251P,FCHO1:NM_001161358:exon12:c.A903G:p.P301P,FCHO1:NM_001161357:exon13:c.A903G:p.P301P,FCHO1:NM_015122:exon13:c.A903G:p.P301P exonic ENSG00000130475 NA synonymous SNV ENSG00000130475:ENST00000597512:exon9:c.A924G:p.P308P,ENSG00000130475:ENST00000252771:exon11:c.A903G:p.P301P,ENSG00000130475:ENST00000389133:exon11:c.A903G:p.P301P,ENSG00000130475:ENST00000595033:exon11:c.A753G:p.P251P,ENSG00000130475:ENST00000596951:exon11:c.A903G:p.P301P,ENSG00000130475:ENST00000539407:exon12:c.A903G:p.P301P,ENSG00000130475:ENST00000600676:exon12:c.A903G:p.P301P,ENSG00000130475:ENST00000594202:exon13:c.A903G:p.P301P,ENSG00000130475:ENST00000596536:exon13:c.A903G:p.P301P NA NA 19p13.11 NA NA NA NA rs2287859 0.6 0.6 0.539 0.594649 0.4056 0.8254 0.5937 0.5772 0.5757 0.41 0.85 0.57 0.61 0.4931 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062938 NA NA 0.409746 0.557195 NA 0.565 NA 4.3582206 1216 2 55404925 55404925 C T intronic CLHC1 NA NA NA intronic ENSG00000162994 NA NA NA Score=397;Name=lod=55 NA 2p16.1 NA NA NA NA rs6545477 0.2 0.2 0.203 0.199481 0.2147 0.0367 0.1715 0.3669 0.1452 0.21 0.03 0.17 0.4 0.2077 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.118551 NA NA 0.219419 0.356786 NA 0.246 NA 4.358181 1216 20 60791404 60791404 C T exonic HRH3 NA synonymous SNV HRH3:NM_007232:exon3:c.G996A:p.S332S exonic ENSG00000101180 NA synonymous SNV ENSG00000101180:ENST00000317393:exon3:c.G996A:p.S332S,ENSG00000101180:ENST00000340177:exon3:c.G996A:p.S332S NA NA 20q13.33 NA NA NA NA rs3787429 0.47 0.47 0.483 0.490415 0.4056 0.3671 0.4986 0.5825 0.5746 0.42 0.39 0.49 0.61 0.5084 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014705 NA 0 0.394571 0.546882 NA 0.486 NA 4.3580956 1216 8 95186382 95186382 G A exonic CDH17 NA synonymous SNV CDH17:NM_001144663:exon6:c.C531T:p.V177V,CDH17:NM_004063:exon6:c.C531T:p.V177V exonic ENSG00000079112 NA synonymous SNV ENSG00000079112:ENST00000027335:exon6:c.C531T:p.V177V,ENSG00000079112:ENST00000450165:exon6:c.C531T:p.V177V NA NA 8q22.1 NA NA NA NA rs3214050 0.34 0.34 0.336 0.345847 0.4384 0.3165 0.281 0.2307 0.4826 0.43 0.33 0.3 0.22 0.4017 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182416 NA NA 0.468488 0.237177 ID=COSM150505;OCCURENCE=1(stomach) 0.333 NA 4.3580786 1216 14 51370784 51370784 G C intronic ABHD12B NA NA NA intronic ENSG00000100504,ENSG00000131969 NA NA NA NA NA 14q22.1 NA Name=GATA-2 NA NA rs4901064 0.3 0.3 0.272 0.283746 0.2028 0.4573 0.3876 0.1649 0.2751 0.21 0.47 0.38 0.18 0.2481 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387775 NA NA 0.191163 0.153427 NA 0.188 NA 4.357937 1216 3 58398813 58398813 A G intronic PXK NA NA NA UTR3 ENSG00000168297 ENST00000459676:c.*118A>G NA NA NA NA 3p14.3 NA NA Name=3 NA rs13071422 0.75 0.75 0.762 0.740615 0.8091 0.7996 0.7277 0.6089 0.7965 0.79 0.81 0.77 0.63 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976959 NA NA NA NA NA 0.775 NA 4.3575667 1216 4 41984118 41984118 C T exonic DCAF4L1 NA synonymous SNV DCAF4L1:NM_001029955:exon1:c.C309T:p.S103S exonic ENSG00000182308 NA synonymous SNV ENSG00000182308:ENST00000333141:exon1:c.C309T:p.S103S Score=589;Name=lod=329 NA 4p13 NA NA NA NA rs2660320 0.69 0.69 0.641 0.658946 0.7763 0.9593 0.7983 0.1452 0.8241 0.79 0.96 0.78 0.15 0.7564 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262587 1.262587 NA 0.776628 0.24512 NA 0.558 NA 4.3573386 1216 3 75472260 75472260 C T ncRNA_intronic FAM86DP NA NA NA ncRNA_exonic ENSG00000244026 NA NA NA NA NA 3p12.3 NA NA NA NA rs62259122 0.14 0.14 0.126 0.131989 0.164 0.0188 0.1599 0.2337 0.0583 0.16 0.02 0.14 0.25 0.1454 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380293 NA NA NA NA NA 0.246 NA 4.3572666 1216 6 29874647 29874647 G C intergenic HLA-H,HCG4B dist=15791;dist=17722 NA NA ncRNA_exonic ENSG00000233677 NA NA NA Score=612;Name=lod=409 NA 6p22.1 NA NA NA NA rs9259608 0.62 0.62 0.639 0.632588 0.6431 0.5556 0.6816 0.6793 0.6033 0.63 0.53 0.61 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801868 NA NA NA NA NA 0.623 NA 4.3569 1216 3 75472209 75472209 C T ncRNA_exonic FAM86DP NA NA NA ncRNA_exonic ENSG00000244026 NA NA NA NA NA 3p12.3 NA NA NA NA rs11537690 0.14 0.14 0.119 0.131989 0.164 0.0188 0.1599 0.2337 0.0583 0.16 0.02 0.14 0.26 0.1458 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003269 NA 0.37 NA NA NA 0.246 NA 4.3568666 1216 5 148580025 148580025 G A intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647 NA NA NA NA NA 5q32 NA Name=ZNF263 Name=29 NA rs6580602 0.66 0.66 0.659 0.646965 0.671 0.4712 0.7061 0.7579 0.6115 0.69 0.51 0.7 0.76 0.6544 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392269 NA NA 0.651163 0.742851 NA 0.667 NA 4.3567703 1216 9 33625360 33625360 T C ncRNA_exonic ANXA2P2 NA NA NA ncRNA_exonic ENSG00000231991 NA NA NA NA NA 9p13.3 NA NA NA NA rs10971607 0.26 0.26 0.24 0.252596 0.3101 0.2937 0.2867 0.2065 0.1892 0.29 0.25 0.29 0.18 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189651 NA NA NA NA ID=COSN168513;OCCURENCE=1(large_intestine) 0.319 NA 4.3565666 1216 6 29910429 29910429 C G intronic HLA-A NA NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=GTF2F1_(RAP-74),Oct-2,HEY1,Pol2-4H8,TAF7_(SQ-8),YY1_(C-20),Sin3Ak-20,Pol2(phosphoS2),YY1,Pol2,POU2F2,TAF1 NA NA rs9260123 0.51 0.51 0.426 NA NA NA NA NA NA 0.48 0.57 0.53 0.47 0.5067 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486271 1.486271 NA 0.470436 0.465977 NA 0.384 NA 4.3561973 1216 4 42022464 42022464 C A exonic SLC30A9 NA synonymous SNV SLC30A9:NM_006345:exon4:c.C366A:p.G122G exonic ENSG00000014824 NA synonymous SNV ENSG00000014824:ENST00000264451:exon4:c.C366A:p.G122G Score=638;Name=lod=521 NA 4p13 NA NA NA NA rs15857 0.71 0.71 0.665 0.667133 0.7763 0.9583 0.804 0.1884 0.8047 0.79 0.96 0.79 0.22 0.7582 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186015 NA NA 0.775994 0.278711 NA 0.558 NA 4.3561726 1216 1 118183659 118183659 A C intergenic FAM46C,GDAP2 dist=12648;dist=222448 NA NA ncRNA_exonic ENSG00000213262 NA NA NA Score=699;Name=lod=927 NA 1p12 NA NA NA NA rs1775826 0.51 0.51 0.497 0.489417 0.6441 0.4286 0.6023 0.3207 0.5409 0.63 0.45 0.62 0.32 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243285 NA NA NA NA NA 0.464 NA 4.3559 1216 16 74702662 74702662 A G intergenic RFWD3,MLKL dist=1883;dist=3091 NA NA downstream ENSG00000262904 NA NA NA Score=343;Name=lod=33 NA 16q23.1 NA NA NA NA rs4888273 0.11 0.11 0.08 0.118411 0.1441 0.005 0.2925 0.0953 0.1166 0.15 0.0017 0.25 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936721 NA NA NA NA NA 0.13 NA 4.3559 1216 16 70070508 70070508 G A ncRNA_intronic PDXDC2P NA NA NA ncRNA_intronic ENSG00000196696,ENSG00000255185 NA NA NA NA NA 16q22.1 NA NA NA NA rs3762174 0.31 0.31 0.209 0.339657 0.3111 0.4911 0.3746 0.1248 0.4785 0.28 0.46 0.38 0.12 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.399624 1.399624 NA NA NA NA 0.051 NA 4.3555666 1216 19 53741068 53741068 C T exonic ZNF677 NA synonymous SNV ZNF677:NM_182609:exon5:c.G912A:p.S304S exonic ENSG00000197928 NA synonymous SNV ENSG00000197928:ENST00000333952:exon5:c.G912A:p.S304S,ENSG00000197928:ENST00000598513:exon5:c.G912A:p.S304S NA NA 19q13.42 NA NA NA NA rs12984188 0.47 0.47 0.458 0.464856 0.4324 0.752 0.4294 0.2148 0.5654 0.43 0.75 0.44 0.25 0.4592 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302254 NA NA 0.419651 0.243305 ID=COSM148729;OCCURENCE=1(stomach) 0.399 NA 4.3554156 1217 1 203923760 203923760 C T intergenic SNRPE,LINC00303 dist=83480;dist=77815 NA NA upstream ENSG00000237379 NA NA NA Score=304;Name=lod=23 NA 1q32.1 NA NA NA NA rs28595337 0.21 0.21 0.207 0.224441 0.1451 0.3621 0.353 0.1142 0.2219 0.13 0.36 0.25 0.12 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310694 NA NA NA NA ID=COSN163403;OCCURENCE=1(breast) NA NA 4.3549 1217 6 52630153 52630153 C T intergenic GSTA2,GSTA1 dist=1792;dist=26025 NA NA ncRNA_exonic ENSG00000217228 NA NA NA Score=405;Name=lod=59 NA 6p12.2 NA NA NA NA rs6458868 0.74 0.74 0.72 0.735423 0.6451 0.8631 0.755 0.7496 0.6636 0.64 0.86 0.74 0.75 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315688 NA NA NA NA NA 0.609 NA 4.3549 1217 6 52631188 52631188 A G intergenic GSTA2,GSTA1 dist=2827;dist=24990 NA NA ncRNA_exonic ENSG00000217228 NA NA NA Score=401;Name=lod=57 NA 6p12.2 NA NA NA NA rs2749029 0.78 0.78 0.789 0.788139 0.6451 0.8631 0.7723 0.9402 0.6636 0.64 0.86 0.76 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465423 NA NA NA NA NA 0.804 NA 4.3549 1217 3 196386964 196386964 C G exonic LRRC33 NA synonymous SNV LRRC33:NM_198565:exon3:c.C450G:p.A150A exonic ENSG00000174004 NA synonymous SNV ENSG00000174004:ENST00000328557:exon3:c.C450G:p.A150A NA NA 3q29 Score=768;Name=V$PAX5_02 NA NA NA rs1798631 0.79 0.79 0.788 0.808107 0.7644 0.9325 0.8646 0.6823 0.8548 0.74 0.93 0.83 0.67 0.7869 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486398 NA NA 0.761744 0.697231 ID=COSM446261;OCCURENCE=1(breast) 0.79 NA 4.3536226 1217 1 43055243 43055243 C G intronic CCDC30 NA NA NA intronic ENSG00000186409 NA NA NA NA NA 1p34.2 NA NA Name=2 NA rs10789417 0.65 0.65 0.617 0.665136 0.6471 0.5933 0.5922 0.7375 0.7117 0.64 0.54 0.65 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.256143 NA NA NA NA NA 0.587 NA 4.3529 1217 6 63257971 63257971 T C intergenic KHDRBS2,LGSN dist=261871;dist=727885 NA NA ncRNA_exonic ENSG00000217067 NA NA NA Score=670;Name=lod=706 NA 6q11.1 NA NA NA NA rs6913632 0.67 0.67 0.664 0.66234 0.6471 0.5893 0.4957 0.9009 0.5491 0.66 0.57 0.54 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127929 NA NA NA NA NA 0.725 NA 4.3529 1217 16 57074451 57074451 T C intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA Name=7 NA rs289726 0.52 0.52 0.499 0.465455 0.6471 0.3978 0.5519 0.3404 0.456 0.65 0.42 0.59 0.36 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549216 NA NA NA NA NA 0.37 NA 4.3529 1217 4 155466935 155466935 T C intronic PLRG1 NA NA NA intronic ENSG00000171566 NA NA NA NA NA 4q31.3 NA Name=CTCF NA NA rs11935584 0.24 0.24 0.27 0.28115 0.326 0.1438 0.1988 0.3396 0.3558 0.3 0.13 0.22 0.31 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.961535 2.961535 NA 0.321182 0.322254 NA 0.268 NA 4.352818 1217 2 172216969 172216969 T C exonic METTL8 NA unknown UNKNOWN exonic ENSG00000123600 NA synonymous SNV ENSG00000123600:ENST00000375258:exon3:c.A198G:p.K66K,ENSG00000123600:ENST00000392599:exon3:c.A198G:p.K66K,ENSG00000123600:ENST00000442778:exon3:c.A198G:p.K66K,ENSG00000123600:ENST00000447486:exon3:c.A48G:p.K16K,ENSG00000123600:ENST00000392604:exon4:c.A198G:p.K66K,ENSG00000123600:ENST00000442541:exon4:c.A198G:p.K66K,ENSG00000123600:ENST00000453846:exon4:c.A198G:p.K66K NA NA 2q31.1 NA NA NA NA rs3731986 0.3 0.3 0.294 0.311502 0.327 0.1498 0.2565 0.4788 0.2751 0.32 0.12 0.3 0.49 0.3084 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428364 NA NA 0.345233 0.460962 NA 0.333 NA 4.3527003 1217 17 46673724 46673724 C T ncRNA_UTR3 HOXB6 NA NA NA ncRNA_UTR3 ENSG00000108511 NA NA NA NA NA 17q21.32 NA Name=SUZ12 NA NA rs12940530 0.4 0.4 0.132 0.426917 0.5825 0.5208 0.5432 0.1127 0.5123 0.5 0.49 0.47 0.11 0.5233 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069784 NA NA 0.208488 0.028597 NA NA NA 4.3523786 1217 12 18845754 18845754 C T intronic PLCZ1 NA NA NA ncRNA_exonic ENSG00000255993 NA NA NA Score=847;Name=lod=3675 NA 12p12.3 NA NA NA NA rs1973289 0.96 0.96 0.952 0.953674 0.9811 0.999 0.9798 0.8759 0.9652 0.99 1 0.98 0.86 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40642 NA NA NA NA NA 0.957 NA 4.3522333 1217 9 71224796 71224796 G C intergenic TMEM252,PIP5K1B dist=69013;dist=95820 NA NA ncRNA_exonic ENSG00000224025 NA NA NA Score=850;Name=lod=3787 NA 9q21.11 NA NA NA NA rs10781073 0.49 0.49 0.45 0.488818 0.6481 0.4345 0.4726 0.3154 0.6268 0.65 0.42 0.51 0.29 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039584 NA NA NA NA NA 0.58 NA 4.3519 1217 1 43124859 43124859 C T intronic PPIH NA NA NA UTR5 ENSG00000171960 ENST00000455203:c.-157C>T NA NA NA NA 1p34.2 NA Name=BAF155 Name=52 NA rs3738494 0.61 0.61 0.609 0.636781 0.5984 0.6458 0.5461 0.6634 0.6953 0.59 0.59 0.59 0.69 0.6196 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912875 NA NA 0.59686 0.648434 NA 0.58 NA 4.3518067 1217 8 24211331 24211331 G A exonic ADAM28 NA nonsynonymous SNV ADAM28:NM_014265:exon22:c.G2293A:p.V765M exonic ENSG00000042980 NA nonsynonymous SNV ENSG00000042980:ENST00000265769:exon22:c.G2293A:p.V765M NA NA 8p21.2 NA NA NA NA rs7814768 0.99 0.99 0.991 0.967053 0.999 1 0.9914 0.9213 0.9448 1 1 0.99 0.95 0.9866 1 0.38 T 0.0 B 0.001 B . . 1.000 P -0.895 N 4.8 T -1.017 T 0.000 T 0.026 -1.091 0.151 -1.87 -0.631 0.095 10.575 -1.091269 NA 0.22 0.995928 0.94394 NA 0.986 NA 4.3518054 1217 22 24036657 24036657 T C ncRNA_exonic GUSBP11 NA NA NA ncRNA_exonic ENSG00000228315 NA NA NA NA NA 22q11.23 NA NA NA NA rs2070448 0.17 0.17 0.148 0.15655 0.0924 0.2808 0.121 0.1422 0.1391 0.11 0.27 0.11 0.16 0.1366 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919161 NA NA 0.086628 0.149796 NA 0.159 NA 4.3510386 1217 10 70922159 70922159 T C intronic VPS26A NA NA NA intronic ENSG00000122958 NA NA NA Score=688;Name=lod=831 NA 10q22.1 NA NA NA NA rs61871361 0.13 0.13 0.116 0.116414 0.2475 0.0367 0.1095 0.0946 0.0982 0.24 0.02 0.13 0.07 0.1921 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.664122 1.664122 NA 0.209381 0.105455 NA 0.196 NA 4.351019 1217 8 142173356 142173356 C T intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA NA 8q24.3 NA Name=IRF4_(M-17),NFKB NA NA rs428300 0.63 0.63 0.62 0.657548 0.6491 0.5288 0.6023 0.7337 0.7352 0.66 0.53 0.64 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037801 NA NA NA NA NA 0.529 NA 4.3509 1217 12 120902007 120902007 T C intronic SRSF9 NA NA NA intronic ENSG00000111786 NA NA NA NA NA 12q24.31 NA Name=Pol2(phosphoS2) NA NA rs542407 0.72 0.72 0.725 0.743011 0.6491 0.7391 0.6037 0.9493 0.6636 0.64 0.71 0.61 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.10052 NA NA NA NA NA 0.754 NA 4.3509 1217 7 75051375 75051375 T C exonic POM121C NA synonymous SNV POM121C:NM_001099415:exon13:c.A2160G:p.P720P exonic ENSG00000135213 NA synonymous SNV ENSG00000135213:ENST00000257665:exon11:c.A2886G:p.P962P,ENSG00000135213:ENST00000453279:exon13:c.A2160G:p.P720P NA NA 7q11.23 NA NA NA NA rs398016 0.27 0.27 0.18 0.289137 0.4702 0.2589 0.3069 0.152 0.3067 0.41 0.17 0.33 0.15 0.4161 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636436 NA NA 0.429848 0.161688 ID=COSM453389;OCCURENCE=1(breast) NA NA 4.3505186 1217 15 41476465 41476465 G A exonic EXD1 NA synonymous SNV EXD1:NM_152596:exon10:c.C1209T:p.T403T exonic ENSG00000178997 NA synonymous SNV ENSG00000178997:ENST00000314992:exon10:c.C1209T:p.T403T,ENSG00000178997:ENST00000458580:exon12:c.C1383T:p.T461T NA NA 15q15.1 NA NA NA NA rs690733 0.48 0.48 0.506 0.523962 0.4423 0.2907 0.3833 0.8064 0.5665 0.42 0.3 0.41 0.84 0.4445 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266884 NA NA 0.429419 0.758284 NA 0.558 NA 4.3504476 1217 1 95710329 95710329 A G UTR3 TMEM56-RWDD3 NM_001199691:c.*523A>G NA NA ncRNA_UTR3 ENSG00000122481,ENSG00000271092 NA NA NA NA NA 1p21.3 NA NA NA NA rs1062076 0.13 0.13 0.136 0.133586 0.1501 0.0952 0.1643 0.1271 0.1431 0.14 0.1 0.15 0.13 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050877 NA NA NA NA NA 0.043 NA 4.3499 1217 1 95710381 95710381 T C UTR3 TMEM56-RWDD3 NM_001199691:c.*575T>C NA NA ncRNA_UTR3 ENSG00000122481,ENSG00000271092 NA NA NA NA NA 1p21.3 NA NA NA NA rs2296309 0.13 0.13 0.127 0.133986 0.1501 0.0952 0.1643 0.1286 0.1431 0.14 0.1 0.15 0.13 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.651978 1.651978 NA NA NA NA 0.043 NA 4.3499 1217 4 134496046 134496046 C T intergenic PCDH10,PABPC4L dist=383314;dist=621443 NA NA ncRNA_exonic ENSG00000250191 NA NA NA Score=587;Name=lod=324 NA 4q28.3 NA NA NA NA rs2640720 0.68 0.68 0.695 0.652756 0.6501 0.7113 0.5692 0.7602 0.5092 0.65 0.7 0.57 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299552 NA NA NA NA NA 0.71 NA 4.3499 1217 22 21419799 21419799 C T intergenic LOC400891,BCRP2 dist=1342;dist=37506 NA NA ncRNA_exonic ENSG00000249680 NA NA NA Score=614;Name=lod=416 NA 22q11.21 NA NA NA NA rs410356 0.53 0.53 0.543 0.511981 0.6501 0.1101 0.4524 0.8381 0.3855 0.66 0.11 0.49 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695017 NA NA NA NA NA 0.696 NA 4.3499 1217 6 18572233 18572233 A C downstream MIR548A1 NA NA NA downstream ENSG00000207775 NA NA NA Score=243;Name=lod=13 NA 6p22.3 NA NA NA NA rs9396886 0.25 0.25 0.233 0.228035 0.3171 0.2153 0.3242 0.1293 0.2147 0.32 0.22 0.29 0.15 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.905174 NA NA NA NA NA 0.188 NA 4.3495666 1217 7 38471753 38471753 A G intronic AMPH NA NA NA intronic ENSG00000078053 NA NA NA NA NA 7p14.1 NA Name=MafK_(ab50322) NA NA rs10232299 0.17 0.17 0.155 0.148163 0.2455 0.0308 0.1297 0.2005 0.1115 0.24 0.05 0.17 0.22 0.181 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50033 NA NA 0.224419 0.216296 NA 0.159 NA 4.349081 1217 14 21793236 21793236 G A intronic RPGRIP1 NA NA NA intronic ENSG00000092200 NA NA NA NA NA 14q11.2 Score=901;Name=V$NCX_01 NA NA NA rs7157052 0.14 0.14 0.131 0.145168 0.2177 0.002 0.121 0.1808 0.1871 0.22 NA 0.12 0.19 0.1971 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89038 NA NA 0.236171 0.167684 NA 0.138 NA 4.349029 1217 6 111696257 111696257 G A exonic REV3L NA synonymous SNV REV3L:NM_002912:exon13:c.C3301T:p.L1101L exonic ENSG00000009413 NA synonymous SNV ENSG00000009413:ENST00000368802:exon13:c.C3301T:p.L1101L,ENSG00000009413:ENST00000358835:exon14:c.C3301T:p.L1101L,ENSG00000009413:ENST00000368805:exon14:c.C3301T:p.L1101L,ENSG00000009413:ENST00000435970:exon15:c.C3067T:p.L1023L Score=687;Name=lod=828 NA 6q21 NA NA NA NA rs461646 0.59 0.59 0.577 0.586661 0.7893 0.4534 0.7435 0.3654 0.7035 0.78 0.47 0.72 0.35 0.7161 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575326 NA NA 0.812326 0.439174 NA 0.572 NA 4.3489406 1217 4 169842976 169842976 T C intronic PALLD NA NA NA intronic ENSG00000129116,ENSG00000145439 NA NA NA NA NA 4q32.3 NA Name=Pol2,CTCF NA NA rs17615157 0.58 0.58 0.55 0.56889 0.6511 0.9018 0.634 0.1172 0.7055 0.66 0.88 0.61 0.09 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740254 NA NA NA NA NA 0.464 NA 4.3489 1217 7 24888620 24888620 T C intronic OSBPL3 NA NA NA intronic ENSG00000070882 NA NA NA NA NA 7p15.3 Score=863;Name=V$TAL1BETAITF2_01 NA NA NA rs757156 0.81 0.81 0.811 0.842452 0.6511 0.9861 0.781 0.9191 0.8313 0.65 0.99 0.75 0.9 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.644093 1.644093 NA NA NA NA 0.855 NA 4.3489 1217 5 44310492 44310492 A T intronic FGF10 NA NA NA intronic ENSG00000070193 NA NA NA NA NA 5p12 NA NA Name=3 NA rs6881797 0.23 0.23 0.2 0.232628 0.2008 0.1796 0.379 0.2284 0.2219 0.21 0.18 0.34 0.26 0.2483 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523981 NA NA 0.202769 0.224114 ID=COSN167463;OCCURENCE=1(large_intestine) 0.217 NA 4.348131 1217 22 50280136 50280136 T C exonic ZBED4 NA synonymous SNV ZBED4:NM_014838:exon2:c.T2826C:p.A942A exonic ENSG00000100426 NA synonymous SNV ENSG00000100426:ENST00000216268:exon2:c.T2826C:p.A942A NA NA 22q13.33 NA Name=ZNF263 NA NA rs5770755 0.66 0.66 0.579 0.590056 0.7932 0.8264 0.8199 0.174 0.5368 0.79 0.81 0.8 0.17 0.7386 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.506657 NA NA 0.786744 0.287789 NA 0.507 NA 4.3481226 1217 1 24418768 24418768 T C exonic MYOM3 NA synonymous SNV MYOM3:NM_152372:exon11:c.A1128G:p.P376P exonic ENSG00000142661 NA synonymous SNV ENSG00000142661:ENST00000329601:exon11:c.A1128G:p.P376P,ENSG00000142661:ENST00000330966:exon11:c.A1131G:p.P377P,ENSG00000142661:ENST00000374434:exon11:c.A1128G:p.P376P NA NA 1p36.11 NA NA NA NA rs7556176 0.42 0.42 0.401 0.376198 0.4662 0.3522 0.3199 0.472 0.2188 0.48 0.32 0.35 0.48 0.4074 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632019 NA NA 0.445068 0.448568 NA 0.29 NA 4.3479986 1217 3 58186911 58186911 A G intronic DNASE1L3 NA NA NA intronic ENSG00000163687 NA NA NA NA NA 3p14.3 NA Name=EBF,Pbx3,PU.1,NFKB,EBF1_(C-8),TCF12 NA NA rs4234389 0.83 0.83 0.816 0.852436 0.6521 0.999 0.8199 0.9183 0.8415 0.67 1 0.8 0.9 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226198 NA NA NA NA NA 0.906 NA 4.3479 1217 17 34431287 34431287 G T UTR5 CCL4 NM_002984:c.-12G>T NA NA UTR5 ENSG00000129277 ENST00000250151:c.-12G>T,ENST00000394495:c.-12G>T NA NA NA NA 17q12 NA Name=Pol2 Name=3 NA rs1049750 0.94 0.94 NA 0.955671 0.998 0.994 0.9827 0.848 0.999 0.99 0.95 0.97 0.83 0.9876 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534682 NA NA NA NA NA NA NA 4.3477334 1217 1 11018723 11018723 A G intronic C1orf127 NA NA NA intronic ENSG00000175262 NA NA NA NA NA 1p36.22 NA Name=NANOG_(SC-33759) NA NA rs60676743 0.21 0.21 0.161 0.242013 0.2078 0.2282 0.33 0.0681 0.4642 0.23 0.24 0.3 0.08 0.2503 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022685 NA NA 0.194302 0.083976 NA 0.174 NA 4.347598 1217 9 93657761 93657761 A T intronic SYK NA NA NA intronic ENSG00000165025 NA NA NA NA NA 9q22.2 NA Name=CTCF_(C-20),MafK_(ab50322),ZBTB7A_(SC-34508),c-Myc,TCF4,Rad21,CTCF Name=32 NA rs158689 0.56 0.56 0.547 0.595647 0.5567 0.4097 0.6196 0.7436 0.6104 0.58 0.41 0.58 0.71 0.5656 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227555 NA NA 0.530349 0.713118 ID=COSN168599;OCCURENCE=1(large_intestine) 0.638 NA 4.347351 1217 12 133312191 133312191 T C intronic ANKLE2 NA NA NA intronic ENSG00000176915 NA NA NA NA NA 12q24.33 NA Name=Pol2 NA NA rs10781637 0.67 0.67 0.664 0.636981 0.6531 0.7599 0.6931 0.5371 0.589 0.66 0.75 0.68 0.58 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626883 NA NA NA NA NA 0.659 NA 4.3469 1217 15 53178012 53178012 T C intergenic ONECUT1,WDR72 dist=95803;dist=627926 NA NA ncRNA_exonic ENSG00000214896 NA NA NA Score=796;Name=lod=2285 NA 15q21.3 NA NA NA NA rs2414185 0.62 0.62 0.58 0.569289 0.6531 0.7669 0.5663 0.4085 0.499 0.65 0.77 0.59 0.4 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798453 NA 0.05 NA NA NA 0.609 NA 4.3469 1217 22 36707951 36707951 T C intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA Name=26 NA rs5756138 0.45 0.45 0.409 0.393371 0.6531 0.2073 0.6643 0.2141 0.3681 0.65 0.23 0.65 0.26 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312121 NA NA NA NA NA 0.464 NA 4.3469 1217 7 84644346 84644346 C G intronic SEMA3D NA NA NA intronic ENSG00000153993 NA NA NA NA NA 7q21.11 NA Name=CTCF,Nrf1 Name=19 NA rs6468008 0.65 0.65 0.665 0.658546 0.5398 0.7589 0.6124 0.7284 0.6155 0.54 0.71 0.62 0.78 0.5684 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54109 NA NA 0.545 0.697231 NA 0.717 NA 4.3468 1217 19 56369593 56369593 T C exonic NLRP4 NA synonymous SNV NLRP4:NM_134444:exon3:c.T834C:p.A278A exonic ENSG00000160505 NA synonymous SNV ENSG00000160505:ENST00000587891:exon1:c.T609C:p.A203A,ENSG00000160505:ENST00000301295:exon3:c.T834C:p.A278A,ENSG00000160505:ENST00000346986:exon3:c.T834C:p.A278A NA NA 19q13.43 NA NA NA NA rs421810 0.5 0.5 0.481 0.53135 0.4274 0.6657 0.4841 0.4523 0.6401 0.43 0.66 0.52 0.39 0.4756 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36658 NA NA 0.417326 0.44394 NA 0.507 NA 4.3463406 1217 22 17669199 17669199 G A intronic CECR1 NA NA NA intronic ENSG00000093072 NA NA NA NA NA 22q11.1 NA Name=CTCF NA NA rs7284498 0.17 0.17 0.17 0.18131 0.2346 0.0962 0.1282 0.1755 0.2597 0.24 0.09 0.12 0.19 0.2044 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.972023 NA NA 0.214884 0.161371 NA 0.159 NA 4.346116 1217 18 14377682 14377682 C T intergenic CYP4F35P,CXADRP3 dist=35159;dist=100272 NA NA ncRNA_exonic ENSG00000187589 NA NA NA Score=519;Name=lod=172 NA 18p11.21 NA NA NA NA rs4797919 0.64 0.64 0.653 0.70607 0.6541 0.7798 0.5937 0.6868 0.7894 0.6 0.74 0.56 0.63 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528887 NA NA NA NA NA 0.645 NA 4.3459 1217 21 47681127 47681127 T C intronic MCM3AP NA NA NA intronic ENSG00000160294 NA NA NA NA NA 21q22.3 NA Name=c-Myc NA NA rs2839180 0.51 0.51 0.464 0.492412 0.6541 0.3611 0.6499 0.3464 0.547 0.65 0.32 0.67 0.39 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087176 NA NA NA NA NA 0.442 NA 4.3459 1217 1 109737132 109737132 T C exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267049:exon7:c.T987C:p.T329T,KIAA1324:NM_001267048:exon13:c.T1776C:p.T592T,KIAA1324:NM_020775:exon15:c.T2037C:p.T679T exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000529753:exon13:c.T1776C:p.T592T,ENSG00000116299:ENST00000457623:exon14:c.T1887C:p.T629T,ENSG00000116299:ENST00000369939:exon15:c.T2037C:p.T679T NA NA 1p13.3 NA NA Name=22 NA rs2359244 0.76 0.76 0.735 0.766573 0.7654 0.9702 0.8127 0.4667 0.9305 0.79 0.97 0.81 0.46 0.7948 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45103 NA NA 0.760581 0.48729 NA 0.797 NA 4.3458856 1217 2 91843403 91843403 T C ncRNA_exonic LOC654342 NA NA NA ncRNA_exonic ENSG00000143429 NA NA NA NA NA 2p11.1 NA NA NA NA rs112527890 NA NA 0.243 0.285343 0.3211 0.2718 0.281 0.261 0.2986 NA NA NA NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776042 NA NA NA NA NA 0.21 NA 4.3455666 1218 5 169568199 169568199 T C intergenic FOXI1,C5orf58 dist=31470;dist=91751 NA NA ncRNA_exonic ENSG00000253219 NA NA NA Score=638;Name=lod=520 NA 5q35.1 NA NA NA NA rs1960003 0.53 0.53 0.495 0.519968 0.6551 0.4514 0.7104 0.2837 0.636 0.64 0.47 0.71 0.32 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025116 NA NA NA NA NA 0.486 NA 4.3449 1218 5 169568640 169568640 G A intergenic FOXI1,C5orf58 dist=31911;dist=91310 NA NA ncRNA_exonic ENSG00000253219 NA NA NA Score=563;Name=lod=259 NA 5q35.1 NA NA NA NA rs4867581 0.53 0.53 0.495 0.517772 0.6551 0.4425 0.7104 0.2829 0.635 0.64 0.46 0.71 0.32 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499765 NA NA NA NA NA 0.486 NA 4.3449 1218 15 96931976 96931976 C T intergenic NR2F2,SPATA8 dist=48484;dist=394703 NA NA ncRNA_exonic ENSG00000259614 NA NA NA Score=821;Name=lod=2885 NA 15q26.2 NA NA NA NA rs7496591 0.66 0.66 0.67 0.64976 0.6551 0.6835 0.549 0.6808 0.6391 0.67 0.67 0.62 0.67 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.677591 1.677591 NA NA NA NA 0.717 NA 4.3449 1218 7 95034821 95034821 A T intronic PON2 NA NA NA intronic ENSG00000105854 NA NA NA Score=251;Name=lod=14 NA 7q21.3 NA NA NA NA rs9641164 0.3 0.3 0.289 0.283746 0.2296 0.622 0.3703 0.0325 0.2689 0.22 0.63 0.34 0.03 0.2403 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190546 NA NA 0.185233 0.071266 ID=COSN168150;OCCURENCE=1(large_intestine) 0.275 NA 4.344867 1218 19 1054060 1054060 A G exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon26:c.A3528G:p.L1176L exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon20:c.A3114G:p.L1038L,ENSG00000064687:ENST00000433129:exon25:c.A3528G:p.L1176L,ENSG00000064687:ENST00000263094:exon26:c.A3528G:p.L1176L NA NA 19p13.3 NA NA NA NA rs3752243 0.51 0.51 0.515 0.536142 0.4235 0.3819 0.4712 0.8003 0.5 0.44 0.4 0.47 0.76 0.4723 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212907 NA NA 0.426047 0.722424 NA 0.391 NA 4.3448196 1218 6 142860028 142860028 C T ncRNA_intronic LOC153910 NA NA NA ncRNA_intronic ENSG00000236366 NA NA NA NA NA 6q24.2 NA NA NA NA rs263188 0.36 0.36 0.362 0.379792 0.3221 0.3571 0.3573 0.4932 0.3252 0.29 0.32 0.36 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895327 NA NA NA NA NA 0.261 NA 4.3445666 1218 18 77067000 77067000 T G exonic ATP9B NA synonymous SNV ATP9B:NM_198531:exon15:c.T1539G:p.A513A exonic ENSG00000166377 NA synonymous SNV ENSG00000166377:ENST00000307671:exon15:c.T1539G:p.A513A,ENSG00000166377:ENST00000426216:exon15:c.T1539G:p.A513A NA NA 18q23 NA NA NA NA rs3760541 0.39 0.39 0.356 0.403355 0.4483 0.38 0.4481 0.3623 0.4049 0.43 0.35 0.46 0.32 0.4331 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.721486 1.721486 NA 0.44093 0.385611 NA 0.384 NA 4.3443366 1218 17 1943888 1943888 T C exonic DPH1 NA synonymous SNV DPH1:NM_001383:exon9:c.T1011C:p.P337P exonic ENSG00000108963 NA synonymous SNV ENSG00000108963:ENST00000570477:exon8:c.T771C:p.P257P,ENSG00000108963:ENST00000263083:exon9:c.T1011C:p.P337P NA NA 17p13.3 NA NA Name=3 NA rs2236375 0.84 0.84 0.831 0.816693 0.7575 0.9306 0.8761 0.8321 0.6973 0.76 0.92 0.86 0.85 0.7876 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188428 NA NA 0.777324 0.813901 NA 0.775 NA 4.3442426 1218 12 772673 772673 C A UTR5 NINJ2 NM_016533:c.-9G>T NA NA ncRNA_exonic ENSG00000177406 NA NA NA NA NA 12p13.33 NA NA Name=58 NA rs4980959 0.38 0.38 0.355 0.370607 0.3946 0.375 0.4222 0.329 0.3609 0.4 0.4 0.39 0.32 0.3874 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678636 NA NA 0.37407 0.342261 NA 0.333 NA 4.34393 1218 3 186479009 186479009 A G intergenic KNG1,EIF4A2 dist=16810;dist=22352 NA NA ncRNA_exonic ENSG00000226652 NA NA NA Score=698;Name=lod=915 NA 3q27.3 NA NA NA NA rs866601 0.73 0.73 0.748 0.748602 0.6561 0.8413 0.5951 0.8018 0.7853 0.67 0.83 0.59 0.81 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.524804 1.524804 NA NA NA NA 0.703 NA 4.3439 1218 19 6141471 6141471 C A intronic ACSBG2 NA NA NA intronic ENSG00000087903,ENSG00000130377 NA NA NA NA NA 19p13.3 NA Name=SRF,TR4 NA NA rs10853992 0.65 0.65 0.589 0.607228 0.6561 0.6885 0.7075 0.4856 0.5665 0.66 0.71 0.71 0.5 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336086 NA NA NA NA NA 0.565 NA 4.3439 1218 1 233767008 233767008 T A intronic KCNK1 NA NA NA UTR5 ENSG00000135750 ENST00000366620:c.-19T>A NA NA NA NA 1q42.2 NA Name=TAL1_(SC-12984) NA NA rs701224 0.4 0.4 0.433 0.428714 0.2465 0.3532 0.2723 0.8026 0.2996 0.25 0.35 0.28 0.79 0.315 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139058 NA NA 0.261929 0.719178 NA 0.42 NA 4.3432377 1218 1 233767023 233767023 A G intronic KCNK1 NA NA NA UTR5 ENSG00000135750 ENST00000366620:c.-4A>G NA NA NA NA 1q42.2 NA Name=TAL1_(SC-12984) NA NA rs701225 0.4 0.4 0.433 0.426318 0.2465 0.3532 0.2723 0.7995 0.2914 0.25 0.35 0.28 0.79 0.3157 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695039 NA NA 0.261678 0.718037 NA 0.42 NA 4.3427887 1218 2 96679384 96679384 C T ncRNA_intronic FAHD2CP NA NA NA ncRNA_intronic ENSG00000231584 NA NA NA NA NA 2q11.1 NA NA NA NA rs2579517 0.33 0.33 0.283 0.282149 0.3241 0.4613 0.3934 0.1021 0.2188 0.33 0.51 0.34 0.13 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307048 NA NA NA NA NA 0.275 NA 4.3425666 1218 4 56235931 56235931 C G ncRNA_intronic SRD5A3-AS1 NA NA NA ncRNA_intronic ENSG00000249700 NA NA NA NA NA 4q12 NA NA NA NA rs819268 0.24 0.24 0.22 0.267173 0.3241 0.1052 0.2363 0.2375 0.4376 0.33 0.11 0.29 0.24 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243285 NA NA NA NA NA 0.217 NA 4.3425666 1218 4 56236328 56236328 C T ncRNA_UTR3 SRD5A3 NA NA NA ncRNA_UTR3 ENSG00000128039 NA NA NA NA NA 4q12 NA NA NA NA rs2538 0.24 0.24 0.233 0.267572 0.3241 0.1071 0.2363 0.2375 0.4376 0.33 0.12 0.29 0.24 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494937 NA NA NA NA NA 0.217 NA 4.3425666 1218 1 12056440 12056440 C T intronic MFN2 NA NA NA intronic ENSG00000116688 NA NA NA NA NA 1p36.22 NA Name=CTCF,CTCF_(SC-5916) NA NA rs2236056 0.63 0.63 0.637 0.653554 0.6581 0.6349 0.5533 0.6936 0.6851 0.66 0.58 0.56 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229707 NA NA NA NA NA 0.572 NA 4.3419 1218 22 22735789 22735789 C T intergenic LOC96610,ZNF280B dist=58465;dist=102983 NA NA downstream ENSG00000211651 NA NA NA NA NA 22q11.22 NA Name=PU.1 NA NA rs7284647 0.14 0.14 0.138 0.145966 0.1581 0.001 0.1153 0.3003 0.0961 0.16 0.0017 0.13 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244381 NA NA NA NA NA 0.116 NA 4.3419 1218 9 139837990 139837990 G C intronic FBXW5 NA NA NA intronic ENSG00000159069 NA NA NA NA NA 9q34.3 NA Name=GR Name=3 NA rs2271872 0.62 0.62 0.637 0.650958 0.5398 0.8323 0.4568 0.6921 0.6605 0.53 0.81 0.46 0.66 0.5844 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230195 NA NA 0.534101 0.655353 NA 0.674 NA 4.341699 1218 2 220405230 220405230 G A exonic CHPF NA synonymous SNV CHPF:NM_001195731:exon4:c.C717T:p.H239H,CHPF:NM_024536:exon4:c.C1203T:p.H401H exonic ENSG00000123989 NA synonymous SNV ENSG00000123989:ENST00000243776:exon4:c.C1203T:p.H401H,ENSG00000123989:ENST00000535926:exon4:c.C717T:p.H239H NA NA 2q35 NA NA NA NA rs6436154 0.36 0.36 0.339 0.311102 0.4523 0.2748 0.4841 0.2065 0.2219 0.46 0.27 0.44 0.23 0.4101 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288676 NA NA 0.462666 0.262716 NA 0.435 NA 4.3416006 1218 17 61987405 61987405 A T intronic CSHL1 NA NA NA exonic ENSG00000204414 NA synonymous SNV ENSG00000204414:ENST00000450719:exon3:c.T306A:p.P102P,ENSG00000204414:ENST00000561003:exon3:c.T339A:p.P113P NA NA 17q23.3 NA NA NA NA rs2006122 0.21 0.21 0.183 0.197085 0.2624 0.0794 0.196 0.2731 0.1493 0.25 0.09 0.19 0.31 0.2296 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419404 NA NA NA NA NA 0.159 NA 4.3413333 1218 15 28502279 28502279 A G exonic HERC2 NA synonymous SNV HERC2:NM_004667:exon17:c.T2445C:p.G815G exonic ENSG00000128731 NA synonymous SNV ENSG00000128731:ENST00000261609:exon17:c.T2445C:p.G815G Score=426;Name=lod=72 NA 15q13.1 NA NA NA NA rs11631797 0.49 0.49 0.409 0.442492 0.7863 0.3006 0.6225 0.2118 0.4192 0.8 0.26 0.61 0.18 0.6876 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193951 NA NA 0.851688 0.307308 NA 0.507 NA 4.3410786 1218 2 233599904 233599904 A C UTR5 GIGYF2 NM_015575:c.-4A>C,NM_001103148:c.-4A>C,NM_001103147:c.-4A>C,NM_001103146:c.-4A>C NA NA UTR5 ENSG00000204120 ENST00000373566:c.-4A>C,ENST00000427233:c.-4A>C,ENST00000373563:c.-4A>C,ENST00000428883:c.-4A>C,ENST00000409480:c.-4A>C,ENST00000456491:c.-4A>C,ENST00000409547:c.-4A>C,ENST00000430720:c.-4A>C,ENST00000425040:c.-4A>C,ENST00000421433:c.-4A>C,ENST00000423659:c.-4A>C,ENST00000409196:c.-4A>C,ENST00000409451:c.-4A>C,ENST00000440945:c.-4A>C,ENST00000429187:c.-4A>C,ENST00000424038:c.-4A>C NA NA Score=464;Name=lod=103 NA 2q37.1 NA NA NA NA rs11555646 0.29 0.29 0.266 0.359425 0.2853 0.3532 0.3055 0.2405 0.6411 0.28 0.32 0.29 0.25 0.3578 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.857258 4.857258 NA 0.349651 0.264185 ID=COSN166435;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.312 NA 4.3405824 1218 1 17265366 17265366 C G intronic CROCC NA NA NA intronic ENSG00000058453 NA NA NA NA NA 1p36.13 NA NA Name=9 NA rs4269812 0.36 0.36 0.34 NA NA NA NA NA NA 0.33 0.41 0.34 0.36 0.3435 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046042 NA NA 0.316457 0.376364 NA 0.261 NA 4.340043 1218 5 79584872 79584872 A G intergenic SERINC5,LOC644936 dist=32974;dist=10045 NA NA ncRNA_exonic ENSG00000249438 NA NA NA Score=658;Name=lod=631 NA 5q14.1 NA NA NA NA rs6867389 0.78 0.78 0.778 0.796526 0.66 0.999 0.6744 0.7648 0.8579 0.66 1 0.69 0.76 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68281 NA NA NA NA NA 0.746 NA 4.34 1218 6 8015821 8015821 T C ncRNA_exonic EEF1E1-MUTED NA NA NA UTR3 ENSG00000188428 ENST00000397457:c.*61A>G,ENST00000244777:c.*473A>G,ENST00000543936:c.*61A>G NA NA NA NA 6p24.3 NA NA NA NA rs3734591 0.16 0.16 0.143 0.139976 0.16 0.1369 0.2046 0.1536 0.0583 0.16 0.14 0.2 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208403 NA NA NA NA NA 0.138 NA 4.34 1218 19 36988338 36988338 T C intergenic LOC728752,ZNF260 dist=6396;dist=13251 NA NA ncRNA_exonic ENSG00000267091 NA NA NA Score=763;Name=lod=1677 NA 19q13.12 NA NA NA NA rs2912428 0.53 0.53 0.515 0.538139 0.66 0.2579 0.5159 0.6233 0.6022 0.66 0.25 0.56 0.65 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.512421 2.512421 NA NA NA NA 0.543 NA 4.34 1218 22 22425106 22425106 T G intergenic TOP3B,VPREB1 dist=87959;dist=174094 NA NA ncRNA_exonic ENSG00000254161 NA NA NA NA NA 22q11.22 NA NA Name=7 NA rs743531 0.74 0.74 0.738 0.767372 0.66 0.6845 0.7637 0.9304 0.7454 0.65 0.68 0.75 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136443 NA NA NA NA NA 0.812 NA 4.34 1218 20 43034693 43034693 C T intronic HNF4A NA NA NA intronic ENSG00000101076 NA NA NA NA NA 20q13.12 NA NA NA NA rs745975 0.19 0.19 0.185 0.16873 0.2247 0.1915 0.1282 0.0885 0.2249 0.23 0.22 0.14 0.13 0.2008 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566421 NA NA 0.234767 0.103949 NA 0.254 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117237.2;CLNDSDB=.;CLNDSDBID=. 4.339733 1218 6 135941308 135941308 A G ncRNA_intronic LINC00271 NA NA NA ncRNA_exonic ENSG00000226540 NA NA NA NA NA 6q23.3 NA NA NA NA rs3734213 0.31 0.31 0.278 0.309904 0.327 0.256 0.2752 0.3109 0.3712 0.35 0.24 0.31 0.33 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019551 NA NA NA NA NA 0.268 NA 4.3396666 1218 22 32772911 32772911 T C ncRNA_intronic LOC339666 NA NA NA ncRNA_exonic ENSG00000243519 NA NA NA NA NA 22q12.3 NA NA NA NA rs713906 0.38 0.38 0.393 0.428914 0.327 0.0833 0.4049 0.8192 0.3793 0.31 0.07 0.39 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324604 NA NA NA NA NA 0.551 NA 4.3396666 1218 10 121551581 121551581 A C exonic INPP5F NA synonymous SNV INPP5F:NM_001243195:exon5:c.A645C:p.A215A exonic ENSG00000198825 NA synonymous SNV ENSG00000198825:ENST00000369081:exon3:c.A357C:p.A119A NA NA 10q26.11 NA NA NA NA rs2289306 0.36 0.36 0.342 0.413139 0.4463 0.2341 0.3501 0.329 0.7219 0.45 0.22 0.38 0.36 0.4367 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.264939 NA NA 0.444186 0.345211 ID=COSM147058;OCCURENCE=1(stomach) 0.391 NA 4.3394806 1218 4 81309456 81309456 A C intronic C4orf22 NA NA NA ncRNA_exonic ENSG00000232327 NA NA NA Score=664;Name=lod=668 NA 4q21.21 NA NA NA NA rs4693021 0.94 0.94 0.92 0.93131 0.994 1 0.9885 0.7526 0.9969 0.99 1 0.99 0.73 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054675 NA 1 NA NA NA 0.942 NA 4.3393333 1218 12 66859221 66859221 T C intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA Score=300;Name=lod=22 NA 12q14.3 NA NA NA NA rs12820901 0.23 0.23 0.234 0.2498 0.2167 0.129 0.1801 0.4561 0.1789 0.22 0.1 0.2 0.41 0.2132 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12659 NA NA 0.231042 0.427632 NA 0.203 NA 4.339058 1218 7 47407888 47407888 G A intronic TNS3 NA NA NA intronic ENSG00000136205 NA NA NA NA NA 7p12.3 NA Name=ZNF263,ERalpha_a NA NA rs2255749 0.45 0.45 0.428 0.421725 0.661 0.3472 0.5418 0.1944 0.4744 0.65 0.34 0.57 0.2 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763149 NA NA NA NA NA 0.507 NA 4.339 1218 16 18026736 18026736 G A intergenic XYLT1,MIR3180-1 dist=461998;dist=469299 NA NA ncRNA_exonic ENSG00000228071 NA NA NA Score=758;Name=lod=1606 NA 16p12.3 NA NA NA NA rs1834943 0.63 0.63 0.619 0.621406 0.661 0.5407 0.6354 0.6513 0.6135 0.66 0.56 0.68 0.63 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153902 NA 1 NA NA NA 0.696 NA 4.339 1218 16 2138218 2138218 A C intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs1800718 0.25 0.25 0.26 0.256989 0.2356 NA 0.2133 0.6157 0.09 0.23 NA 0.24 0.58 0.2067 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509994 NA NA 0.218953 0.542766 NA 0.312 CLINSIG=untested|probable-non-pathogenic;CLNDBN=Tuberous_sclerosis_syndrome|not_specified;CLNREVSTAT=not|single;CLNACC=RCV000042691.2|RCV000118712.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK1220:C0041341:191100:7199000|. 4.338747 1218 16 1306377 1306377 G A intronic TPSD1 NA NA NA intronic ENSG00000095917 NA NA NA NA NA 16p13.3 Score=858;Name=V$GR_Q6 NA NA NA rs3927397 0.26 0.26 0.216 0.260184 0.2207 0.1508 0.3386 0.3971 0.1728 0.21 0.15 0.32 0.42 0.2271 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.951727 NA NA 0.213987 0.351936 NA 0.043 NA 4.338213 1218 6 117250182 117250182 C T intronic RFX6 NA NA NA intronic ENSG00000185002 NA NA NA NA NA 6q22.1 NA Name=KAP1 NA NA rs673055 0.3 0.3 0.286 0.340455 0.2286 0.4226 0.2911 0.2958 0.4663 0.23 0.41 0.27 0.29 0.2558 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526832 NA NA 0.177442 0.283023 NA 0.304 NA 4.338158 1218 17 48752890 48752890 G A intronic ABCC3 NA NA NA intronic ENSG00000108846 NA NA NA NA NA 17q21.33 NA NA Name=3 NA rs2072366 0.66 0.66 0.641 0.630391 0.662 0.7222 0.6844 0.441 0.7209 0.68 0.77 0.64 0.51 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.401489 1.401489 NA NA NA NA 0.623 NA 4.338 1218 14 74206481 74206481 T C exonic ELMSAN1 NA synonymous SNV ELMSAN1:NM_001043318:exon2:c.A231G:p.V77V,ELMSAN1:NM_194278:exon2:c.A231G:p.V77V exonic ENSG00000156030 NA synonymous SNV ENSG00000156030:ENST00000423556:exon1:c.A231G:p.V77V,ENSG00000156030:ENST00000286523:exon2:c.A231G:p.V77V,ENSG00000156030:ENST00000394071:exon2:c.A231G:p.V77V,ENSG00000156030:ENST00000435371:exon2:c.A231G:p.V77V Score=441;Name=lod=83 NA 14q24.3 NA NA NA NA rs758774 0.87 0.87 0.885 0.86242 0.7654 0.9325 0.8213 0.9728 0.7699 0.75 0.97 0.83 0.98 0.798 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329318 NA NA 0.765487 0.93872 NA 0.848 NA 4.3377796 1218 7 142180737 142180737 T A intergenic LOC730441,MTRNR2L6 dist=208669;dist=193394 NA NA exonic ENSG00000211721 NA nonsynonymous SNV ENSG00000211721:ENST00000390368:exon2:c.A122T:p.Q41L NA NA 7q34 NA NA NA NA rs372013265 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4956 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705684 NA 0.29 NA NA NA NA NA 4.3377334 1218 18 12075501 12075501 T C intergenic IMPA2,ANKRD62 dist=44616;dist=18347 NA NA ncRNA_exonic ENSG00000256616 NA NA NA Score=778;Name=lod=1937 NA 18p11.21 NA NA NA NA rs10853217 0.59 0.59 0.62 0.626797 0.663 0.5933 0.5692 0.6853 0.5859 0.62 0.55 0.57 0.62 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126609 NA NA NA NA NA 0.645 NA 4.337 1218 19 55144186 55144186 C T exonic LILRB1 NA synonymous SNV LILRB1:NM_001081637:exon6:c.C933T:p.S311S,LILRB1:NM_001081638:exon6:c.C933T:p.S311S,LILRB1:NM_001081639:exon6:c.C933T:p.S311S,LILRB1:NM_006669:exon7:c.C933T:p.S311S exonic ENSG00000104972 NA synonymous SNV ENSG00000104972:ENST00000396315:exon5:c.C933T:p.S311S,ENSG00000104972:ENST00000396317:exon5:c.C933T:p.S311S,ENSG00000104972:ENST00000396321:exon5:c.C933T:p.S311S,ENSG00000104972:ENST00000418536:exon5:c.C933T:p.S311S,ENSG00000104972:ENST00000421584:exon5:c.C933T:p.S311S,ENSG00000104972:ENST00000427581:exon5:c.C1041T:p.S347S,ENSG00000104972:ENST00000448689:exon5:c.C933T:p.S311S,ENSG00000104972:ENST00000324602:exon6:c.C933T:p.S311S,ENSG00000104972:ENST00000396327:exon6:c.C933T:p.S311S,ENSG00000104972:ENST00000396332:exon6:c.C933T:p.S311S,ENSG00000104972:ENST00000434867:exon6:c.C933T:p.S311S,ENSG00000104972:ENST00000396331:exon7:c.C933T:p.S311S NA NA 19q13.42 NA NA NA NA rs272423 0.56 0.56 0.53 0.59365 0.7207 0.3611 0.464 0.6732 0.6871 0.69 0.29 0.53 0.67 0.609 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371722 NA NA NA NA NA 0.478 NA 4.3369666 1218 20 25456888 25456888 A G exonic NINL NA synonymous SNV NINL:NM_025176:exon17:c.T3039C:p.S1013S exonic ENSG00000101004 NA synonymous SNV ENSG00000101004:ENST00000278886:exon17:c.T3039C:p.S1013S NA NA 20p11.21 NA NA NA NA rs437635 0.57 0.57 0.573 0.558107 0.4304 0.9067 0.3559 0.5356 0.5041 0.43 0.93 0.36 0.53 0.466 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446555 NA NA 0.433372 0.508625 NA 0.5 NA 4.3368946 1218 8 30210274 30210274 T C intergenic MIR548O2,LOC100128750 dist=102061;dist=29361 NA NA ncRNA_exonic ENSG00000127589 NA NA NA Score=874;Name=lod=4749 NA 8p12 NA NA NA NA rs4349946 0.78 0.78 0.768 0.790535 0.664 0.8423 0.7709 0.9607 0.6513 0.64 0.85 0.77 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666466 NA NA NA NA NA 0.717 NA 4.336 1218 15 100246936 100246936 T C exonic MEF2A NA synonymous SNV MEF2A:NM_001130928:exon6:c.T657C:p.N219N,MEF2A:NM_001130926:exon8:c.T861C:p.N287N,MEF2A:NM_001130927:exon8:c.T681C:p.N227N,MEF2A:NM_005587:exon9:c.T867C:p.N289N,MEF2A:NM_001171894:exon10:c.T861C:p.N287N exonic ENSG00000068305 NA synonymous SNV ENSG00000068305:ENST00000449277:exon7:c.T657C:p.N219N,ENSG00000068305:ENST00000453228:exon8:c.T861C:p.N287N,ENSG00000068305:ENST00000558812:exon8:c.T681C:p.N227N,ENSG00000068305:ENST00000354410:exon9:c.T867C:p.N289N,ENSG00000068305:ENST00000557785:exon9:c.T861C:p.N287N,ENSG00000068305:ENST00000338042:exon10:c.T888C:p.N296N,ENSG00000068305:ENST00000557942:exon10:c.T885C:p.N295N NA NA 15q26.3 NA NA Name=4 NA rs325408 0.63 0.63 0.607 0.61242 0.7922 0.7103 0.6369 0.2057 0.8589 0.79 0.73 0.68 0.22 0.7471 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284335 1.284335 NA 0.791375 0.318534 NA 0.652 NA 4.3359916 1218 11 43876813 43876813 A C UTR3 HSD17B12 NM_016142:c.*15A>C NA NA ncRNA_UTR3 ENSG00000149084 NA NA NA NA NA 11p11.2 NA NA NA NA rs11037683 0.06 0.06 0.061 0.0503195 0.0497 0.0437 0.0274 0.084 0.0286 0.05 0.05 0.02 0.11 0.0552 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.676435 1.676435 NA 0.059419 0.070132 NA 0.058 NA 4.335681 1218 11 43876829 43876829 A G UTR3 HSD17B12 NM_016142:c.*31A>G NA NA ncRNA_UTR3 ENSG00000149084 NA NA NA NA NA 11p11.2 NA NA NA NA rs11037684 0.06 0.06 0.056 0.0503195 0.0497 0.0437 0.0274 0.084 0.0286 0.05 0.05 0.02 0.11 0.0552 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494866 NA NA 0.059535 0.070132 NA 0.058 NA 4.335565 1218 13 23490396 23490396 C T intergenic BASP1P1,SGCG dist=18076;dist=264664 NA NA ncRNA_exonic ENSG00000234685,ENSG00000262619 NA NA NA Score=670;Name=lod=706 NA 13q12.12 NA NA NA NA rs9506966 0.55 0.55 0.495 0.527955 0.665 0.6528 0.611 0.1392 0.7249 0.67 0.68 0.63 0.17 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097195 NA NA NA NA NA 0.536 NA 4.335 1218 20 2598019 2598019 C T intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA Name=EBF1_(C-8) NA NA rs6083866 0.56 0.56 0.546 0.533946 0.665 0.5675 0.6412 0.2958 0.6104 0.65 0.56 0.65 0.35 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.032877 NA 0 NA NA NA 0.399 NA 4.335 1218 20 29873957 29873957 A G intergenic DEFB115,DEFB116 dist=26522;dist=17058 NA NA ncRNA_exonic ENSG00000224628 NA NA NA Score=504;Name=lod=149 NA 20q11.21 NA NA NA NA rs4911194 0.71 0.71 0.701 0.760583 0.665 0.7609 0.7147 0.8759 0.7352 0.65 0.71 0.69 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06605 NA NA NA NA NA 0.746 NA 4.335 1219 11 56467833 56467833 T C intronic OR8U8 NA NA NA upstream ENSG00000174914 NA NA NA NA NA 11q12.1 NA NA Name=14 NA rs73474897 0.5 0.5 0.4 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4989 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429468 NA NA NA NA NA 0.283 NA 4.3344333 1219 7 78256643 78256643 G T intronic MAGI2 NA NA NA intronic ENSG00000187391 NA NA NA NA NA 7q21.11 Score=885;Name=V$OCT1_02 NA NA NA rs38117 0.53 0.53 0.537 0.558706 0.666 0.3016 0.6182 0.5318 0.7076 0.66 0.31 0.64 0.52 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048788 NA NA NA NA NA 0.572 NA 4.334 1219 1 163309219 163309219 A T exonic NUF2 NA synonymous SNV NUF2:NM_031423:exon8:c.A558T:p.G186G,NUF2:NM_145697:exon8:c.A558T:p.G186G exonic ENSG00000143228 NA synonymous SNV ENSG00000143228:ENST00000271452:exon8:c.A558T:p.G186G,ENSG00000143228:ENST00000367900:exon8:c.A558T:p.G186G,ENSG00000143228:ENST00000497990:exon8:c.A558T:p.G186G,ENSG00000143228:ENST00000524800:exon8:c.A558T:p.G186G,ENSG00000143228:ENST00000442820:exon9:c.A558T:p.G186G NA NA 1q23.3 NA NA NA NA rs1509022 0.38 0.38 0.366 0.428514 0.4374 0.3512 0.4352 0.32 0.6411 0.44 0.32 0.43 0.32 0.4412 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.706845 NA NA 0.454302 0.343849 NA 0.399 NA 4.3337646 1219 13 53035925 53035925 A G exonic CKAP2 NA nonsynonymous SNV CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_018204:exon4:c.A964G:p.I322V exonic ENSG00000136108 NA nonsynonymous SNV ENSG00000136108:ENST00000258607:exon4:c.A964G:p.I322V,ENSG00000136108:ENST00000378034:exon4:c.A964G:p.I322V,ENSG00000136108:ENST00000378037:exon4:c.A967G:p.I323V,ENSG00000136108:ENST00000490903:exon4:c.A820G:p.I274V NA NA 13q14.3 NA NA NA NA rs7335867 1 1 0.999 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9998 1 . . 0.0 B 0.001 B 0.751 N 1.000 P -2.24 N 2.47 T -1.002 T 0.000 T 0.001 -2.606 0 -1.67 -0.480 -0.290 7.368 -2.606433 NA 1 1 0.999092 NA 1 NA 4.3335334 1219 1 16918717 16918717 C T UTR5 NBPF1 NM_017940:c.-201G>A NA NA UTR5 ENSG00000219481 ENST00000430580:c.-201G>A,ENST00000392963:c.-201G>A NA NA NA NA 1p36.13 NA NA NA NA rs3872321 NA NA 0.287 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781174 NA NA NA NA NA NA NA 4.3333334 1219 1 16918734 16918734 G C UTR5 NBPF1 NM_017940:c.-218C>G NA NA UTR5 ENSG00000219481 ENST00000430580:c.-218C>G,ENST00000392963:c.-218C>G NA NA NA NA 1p36.13 NA NA NA NA rs3928093 NA NA 0.317 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142839 NA NA NA NA NA NA NA 4.3333334 1219 1 144531623 144531623 G A intergenic LOC728875,PFN1P2 dist=9654;dist=79192 NA NA intergenic ENSG00000236943,ENSG00000201699 dist=9653;dist=2415 NA NA NA NA 1q21.1 NA NA Name=5 NA rs7527805 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.800534 1.800534 NA NA NA NA NA NA 4.3333334 1219 1 144951959 144951959 T C UTR3 PDE4DIP NM_001195261:c.*238A>G,NM_001195260:c.*238A>G,NM_001002810:c.*238A>G,NM_022359:c.*238A>G NA NA UTR3 ENSG00000178104 ENST00000369347:c.*238A>G,ENST00000369348:c.*238A>G NA NA NA NA 1q21.1 NA NA NA NA rs10752799 NA NA 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273777 NA NA NA NA NA NA NA 4.3333334 1219 1 144951973 144951973 T C UTR3 PDE4DIP NM_001195261:c.*224A>G,NM_001195260:c.*224A>G,NM_001002810:c.*224A>G,NM_022359:c.*224A>G NA NA UTR3 ENSG00000178104 ENST00000369347:c.*224A>G,ENST00000369348:c.*224A>G NA NA NA NA 1q21.1 NA NA NA NA rs480131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43229 NA NA NA NA NA NA NA 4.3333334 1219 2 97749417 97749417 C T UTR3 FAHD2B NM_199336:c.*75G>A NA NA UTR3 ENSG00000144199 ENST00000272610:c.*75G>A,ENST00000414820:c.*75G>A,ENST00000440566:c.*75G>A NA NA NA NA 2q11.2 NA NA NA NA rs140620633 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149124 NA NA NA NA NA 0.007 NA 4.3333334 1219 2 129229000 129229000 C A intergenic HS6ST1,LOC389033 dist=152829;dist=1451435 NA NA intergenic ENSG00000238379,ENSG00000227653 dist=26228;dist=47362 NA NA Score=544;Name=lod=217 NA 2q14.3 NA NA NA NA rs77284340 NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043013 NA NA NA NA NA NA NA 4.3333334 1219 4 3626315 3626315 C T intergenic FLJ35424,LOC100133461 dist=33603;dist=49005 NA NA intergenic ENSG00000216560,ENSG00000250681 dist=34584;dist=8441 NA NA Score=272;Name=lod=17 NA 4p16.3 NA NA NA NA rs67911037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758236 NA NA NA NA NA 0.413 NA 4.3333334 1219 4 3629261 3629261 C G intergenic FLJ35424,LOC100133461 dist=36549;dist=46059 NA NA intergenic ENSG00000216560,ENSG00000250681 dist=37530;dist=5495 NA NA NA NA 4p16.3 NA Name=c-Myc NA NA rs12331611 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664418 NA NA NA NA NA 0.5 NA 4.3333334 1219 4 190508304 190508304 G A intergenic LOC401164,FRG1 dist=985242;dist=353670 NA NA intergenic ENSG00000205100,ENSG00000250739 dist=111958;dist=72455 NA NA NA NA 4q35.2 NA NA Name=4 NA rs113952125 NA NA 0.005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117624 NA NA NA NA NA 0.022 NA 4.3333334 1219 4 190584869 190584869 A G intergenic LOC401164,FRG1 dist=1061807;dist=277105 NA NA intergenic ENSG00000250739,ENSG00000202215 dist=2229;dist=45824 NA NA NA NA 4q35.2 NA NA Name=2 NA rs2337579 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156895 NA NA NA NA NA 0.5 NA 4.3333334 1219 4 190597771 190597771 G C intergenic LOC401164,FRG1 dist=1074709;dist=264203 NA NA intergenic ENSG00000250739,ENSG00000202215 dist=15131;dist=32922 NA NA NA NA 4q35.2 NA Name=CTCF NA NA rs5023410 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746657 NA NA NA NA NA 0.464 NA 4.3333334 1219 6 57512775 57512775 T G UTR3 PRIM2 NM_000947:c.*73T>G NA NA UTR3 ENSG00000146143 ENST00000607273:c.*562T>G NA NA NA NA 6p11.2 NA NA NA NA rs7773110 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234435 NA NA NA NA NA 0.5 NA 4.3333334 1219 6 57512779 57512779 G T UTR3 PRIM2 NM_000947:c.*77G>T NA NA UTR3 ENSG00000146143 ENST00000607273:c.*566G>T NA NA NA NA 6p11.2 NA NA NA NA rs76296076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.884764 NA NA NA NA NA 0.5 NA 4.3333334 1219 6 57512825 57512825 C T UTR3 PRIM2 NM_000947:c.*114C>T NA NA UTR3 ENSG00000146143 ENST00000607273:c.*612C>T NA NA NA NA 6p11.2 NA NA NA NA rs72880943 NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759347 NA NA NA NA NA NA NA 4.3333334 1219 6 57512826 57512826 A G UTR3 PRIM2 NM_000947:c.*115A>G NA NA UTR3 ENSG00000146143 ENST00000607273:c.*613A>G NA NA NA NA 6p11.2 NA NA NA NA rs7752845 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559217 NA NA NA NA NA NA NA 4.3333334 1219 7 64438403 64438403 G A UTR3 ZNF117 NM_015852:c.*94C>T NA NA UTR3 ENSG00000152926 ENST00000282869:c.*94C>T NA NA NA NA 7q11.21 NA Name=ZNF274 NA NA rs4718175 0.94 0.94 0.937 0.935703 1 1 0.9769 0.77 0.998 1 1 0.97 0.76 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147316 NA NA NA NA NA 0.942 NA 4.3333334 1219 9 118250 118250 C G UTR5 FOXD4 NM_207305:c.-131G>C NA NA UTR5 ENSG00000170122 ENST00000382500:c.-131G>C NA NA NA NA 9p24.3 NA NA NA NA rs6474602 0.25 0.25 0.188 NA NA NA NA NA NA 0.26 0.08 0.3 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.711958 1.711958 NA NA NA NA 0.014 NA 4.3333334 1219 9 66455320 66455320 A G intergenic SPATA31A5,PTGER4P2-CDK2AP2P2 dist=945710;dist=38949 NA NA intergenic ENSG00000235003,ENSG00000238113 dist=58207;dist=1965 NA NA NA NA 9q13 NA Name=SP1,PU.1,YY1_(C-20),SUZ12 NA NA rs7048070 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376958 NA NA NA NA NA NA NA 4.3333334 1219 14 106094468 106094468 A C intergenic TMEM121,ELK2AP dist=97929;dist=41446 NA NA intergenic ENSG00000211892,ENSG00000211893 dist=2065;dist=14921 NA NA NA NA 14q32.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057607 NA NA NA NA NA NA NA 4.3333334 1219 19 53411099 53411099 A G intergenic ZNF320,ZNF816-ZNF321P dist=16500;dist=19289 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=10153;dist=7350 NA NA NA NA 19q13.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112629 NA NA NA NA NA NA NA 4.3333334 1219 20 46524448 46524448 C A intergenic SULF2,LINC00494 dist=109088;dist=464206 NA NA intergenic ENSG00000251770,ENSG00000238785 dist=22431;dist=8644 NA NA NA NA 20q13.13 NA Name=HA-E2F1,CTCF NA NA rs382980 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618564 NA NA NA NA NA 0.449 NA 4.3333334 1219 20 46524469 46524469 T C intergenic SULF2,LINC00494 dist=109109;dist=464185 NA NA intergenic ENSG00000251770,ENSG00000238785 dist=22452;dist=8623 NA NA NA NA 20q13.13 NA Name=CTCF,GR,HA-E2F1 NA NA rs2426014 NA NA 0.176 NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3795 NA NA NA NA NA 0.058 NA 4.3333334 1219 20 46524472 46524472 G T intergenic SULF2,LINC00494 dist=109112;dist=464182 NA NA intergenic ENSG00000251770,ENSG00000238785 dist=22455;dist=8620 NA NA NA NA 20q13.13 NA Name=CTCF,GR,HA-E2F1 NA NA rs28589966 NA NA 0.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602527 NA NA NA NA NA NA NA 4.3333334 1219 20 53968518 53968518 C T intergenic DOK5,CBLN4 dist=700808;dist=603895 NA NA intergenic ENSG00000185834,ENSG00000224008 dist=276833;dist=68356 NA NA NA NA 20q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828557 NA NA NA NA NA NA NA 4.3333334 1219 21 10614856 10614856 G C intergenic TEKT4P2,TPTE dist=646263;dist=291887 NA NA intergenic ENSG00000270533,ENSG00000169861 dist=138795;dist=247766 NA NA NA NA 21p11.2 NA Name=CTCF NA NA rs370129962 NA NA 0.154 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697051 NA NA NA NA NA NA NA 4.3333334 1219 21 10885068 10885068 G C intergenic TEKT4P2,TPTE dist=916475;dist=21675 NA NA intergenic ENSG00000235476,ENSG00000223925 dist=12639;dist=14014 NA NA NA NA 21p11.2 NA NA NA NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220923 NA NA NA NA NA NA NA 4.3333334 1219 21 11110260 11110260 G A intergenic BAGE,NONE dist=11323;dist=NONE NA NA intergenic ENSG00000187172,ENSG00000231962 dist=11280;dist=43577 NA NA NA NA 21p11.1 NA NA Name=32 NA rs11700397 NA NA 0.471 NA NA NA NA NA NA NA NA NA NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838435 NA NA NA NA NA 0.406 NA 4.3333334 1219 21 46011170 46011170 T C UTR3 KRTAP10-6 NM_198688:c.*98A>G NA NA UTR3 ENSG00000188155 ENST00000400368:c.*98A>G NA NA NA NA 21q22.3 NA NA NA NA rs233302 0.26 0.26 0.212 NA NA NA NA NA NA 0.26 0.31 0.29 0.19 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2739 NA NA NA NA NA 0.022 NA 4.3333334 1219 Y 13300027 13300027 G A intergenic NONE,GYG2P1 dist=NONE;dist=1217888 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=36464;dist=40332 NA NA Score=633;Name=lod=497 NA Yq11.1 NA NA NA NA rs3920736 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.624361 NA NA NA NA NA NA NA 4.3333334 1219 Y 13310719 13310719 G A intergenic NONE,GYG2P1 dist=NONE;dist=1207196 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=47156;dist=29640 NA NA Score=578;Name=lod=297 NA Yq11.1 NA NA NA NA rs79308907 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331267 NA NA NA NA ID=COSN168834;OCCURENCE=1(large_intestine) NA NA 4.3333334 1219 Y 13310721 13310721 C A intergenic NONE,GYG2P1 dist=NONE;dist=1207194 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=47158;dist=29638 NA NA Score=578;Name=lod=297 NA Yq11.1 NA NA NA NA rs62599741 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597425 NA NA NA NA ID=COSN168835;OCCURENCE=1(large_intestine) NA NA 4.3333334 1219 Y 13312756 13312756 A G intergenic NONE,GYG2P1 dist=NONE;dist=1205159 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=49193;dist=27603 NA NA Score=501;Name=lod=145 NA Yq11.1 NA NA NA NA rs79068638 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427865 NA NA NA NA NA NA NA 4.3333334 1219 Y 13537278 13537278 G A intergenic NONE,GYG2P1 dist=NONE;dist=980637 NA NA intergenic ENSG00000183704,ENSG00000270242 dist=12561;dist=14097 NA NA Score=428;Name=lod=73 NA Yq11.21 NA NA NA NA rs62604955 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.754449 NA NA NA NA NA NA NA 4.3333334 1219 Y 13541199 13541199 A G intergenic NONE,GYG2P1 dist=NONE;dist=976716 NA NA intergenic ENSG00000183704,ENSG00000270242 dist=16482;dist=10176 NA NA Score=426;Name=lod=72 NA Yq11.21 NA NA NA NA rs75346021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671418 NA NA NA NA NA NA NA 4.3333334 1219 Y 13541232 13541232 A T intergenic NONE,GYG2P1 dist=NONE;dist=976683 NA NA intergenic ENSG00000183704,ENSG00000270242 dist=16515;dist=10143 NA NA Score=426;Name=lod=72 NA Yq11.21 NA NA NA NA rs75435194 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760369 NA NA NA NA NA NA NA 4.3333334 1219 Y 13541288 13541288 G A intergenic NONE,GYG2P1 dist=NONE;dist=976627 NA NA intergenic ENSG00000183704,ENSG00000270242 dist=16571;dist=10087 NA NA Score=289;Name=lod=20 NA Yq11.21 NA NA NA NA rs78714833 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874142 NA NA NA NA NA NA NA 4.3333334 1219 Y 28817222 28817222 G A intergenic TTTY3B,NONE dist=937687;dist=NONE NA NA intergenic ENSG00000237917,NONE dist=36423;dist=NONE NA NA NA NA Yq12 NA NA Name=61 NA rs375099177 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644602 NA NA NA NA NA NA NA 4.3333334 1219 Y 28817225 28817225 A G intergenic TTTY3B,NONE dist=937690;dist=NONE NA NA intergenic ENSG00000237917,NONE dist=36426;dist=NONE NA NA NA NA Yq12 NA NA Name=61 NA rs372390542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515437 NA NA NA NA NA NA NA 4.3333334 1219 Y 28817240 28817240 A G intergenic TTTY3B,NONE dist=937705;dist=NONE NA NA intergenic ENSG00000237917,NONE dist=36441;dist=NONE NA NA NA NA Yq12 NA NA Name=61 NA rs376722846 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466206 NA NA NA NA NA NA NA 4.3333334 1219 Y 59017206 59017206 A G intergenic NONE,SPRY3 dist=NONE;dist=83251 NA NA intergenic ENSG00000235857,NONE dist=15571;dist=NONE NA NA NA NA Yq12 NA NA Name=36 NA rs2527411 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623943 NA NA NA NA NA 0.246 NA 4.3333334 1219 Y 59017238 59017238 A G intergenic NONE,SPRY3 dist=NONE;dist=83219 NA NA intergenic ENSG00000235857,NONE dist=15603;dist=NONE NA NA NA NA Yq12 NA NA Name=36 NA rs7067355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083926 NA NA NA NA NA 0.007 NA 4.3333334 1219 GL000229.1 12461 12461 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000229.1 13276 13276 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000229.1 13746 13746 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000229.1 13903 13903 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000229.1 14222 14222 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000229.1 14307 14307 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000229.1 14341 14341 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000231.1 15424 15424 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000231.1 15440 15440 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000231.1 15442 15442 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000231.1 15459 15459 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000231.1 18127 18127 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000231.1 18281 18281 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 1594 1594 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 1654 1654 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 1681 1681 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 1849 1849 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 1882 1882 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 1960 1960 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2122 2122 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2133 2133 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2145 2145 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2151 2151 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2158 2158 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2264 2264 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000235.1 2296 2296 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 3322 3322 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 3369 3369 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 3451 3451 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 26422 26422 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 26441 26441 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 26488 26488 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 26621 26621 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 26634 26634 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 36715 36715 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 36766 36766 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 37119 37119 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39730 39730 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39838 39838 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39855 39855 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39864 39864 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39866 39866 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39942 39942 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 39971 39971 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40012 40012 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40030 40030 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40037 40037 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40120 40120 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40145 40145 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40162 40162 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000234.1 40187 40187 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000232.1 14607 14607 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000232.1 14642 14642 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000232.1 14668 14668 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000241.1 15958 15958 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000241.1 17108 17108 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000241.1 22733 22733 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000241.1 36669 36669 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000230.1 18278 18278 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000230.1 18347 18347 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 780 780 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 827 827 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 830 830 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 887 887 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 899 899 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 914 914 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 1832 1832 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 2522 2522 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000237.1 2523 2523 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 60969 60969 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 60970 60970 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 61084 61084 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 61096 61096 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 61201 61201 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 71653 71653 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 72177 72177 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 73334 73334 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 74787 74787 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 79094 79094 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 85528 85528 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 88040 88040 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000214.1 131759 131759 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000218.1 23674 23674 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000218.1 23711 23711 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000218.1 38943 38943 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000218.1 39835 39835 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000218.1 39922 39922 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 11446 11446 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 118436 118436 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119111 119111 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119177 119177 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119178 119178 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119190 119190 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119223 119223 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119255 119255 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119256 119256 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119534 119534 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119559 119559 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119567 119567 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119577 119577 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119684 119684 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119822 119822 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 119880 119880 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 120442 120442 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 120493 120493 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 127312 127312 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 133605 133605 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 133607 133607 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 138641 138641 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 140059 140059 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 140190 140190 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 140608 140608 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 140745 140745 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 141518 141518 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 144134 144134 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000220.1 145368 145368 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 91677 91677 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 98226 98226 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 98261 98261 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 106787 106787 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 106864 106864 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 106906 106906 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 106944 106944 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 107086 107086 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 107173 107173 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 107220 107220 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 107321 107321 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111222 111222 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111242 111242 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111243 111243 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111299 111299 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111311 111311 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111312 111312 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111370 111370 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111393 111393 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 111426 111426 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 112356 112356 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 112361 112361 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 112371 112371 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 112430 112430 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 112671 112671 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 112719 112719 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115226 115226 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115260 115260 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115285 115285 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115298 115298 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115320 115320 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115366 115366 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 115383 115383 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 126964 126964 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 126988 126988 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 127060 127060 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 127090 127090 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 127097 127097 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 149001 149001 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 149236 149236 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 158651 158651 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 158670 158670 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000211.1 158694 158694 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000216.1 157070 157070 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000216.1 157088 157088 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000216.1 157163 157163 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 114274 114274 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117169 117169 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117350 117350 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117447 117447 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117582 117582 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117705 117705 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117887 117887 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117916 117916 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 117996 117996 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 118008 118008 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 118065 118065 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 118259 118259 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 118358 118358 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 118386 118386 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 122928 122928 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 122945 122945 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 123036 123036 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000205.1 123107 123107 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 45348 45348 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 45774 45774 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 78859 78859 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 97375 97375 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 97396 97396 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 99352 99352 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 99355 99355 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 99403 99403 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 99488 99488 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 99499 99499 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000219.1 100253 100253 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000224.1 3473 3473 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 122 122 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 666 666 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 820 820 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 14496 14496 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 79700 79700 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 79733 79733 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 79784 79784 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 79796 79796 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 79917 79917 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 79958 79958 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 80067 80067 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 81568 81568 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 81576 81576 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 92304 92304 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 94666 94666 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 142923 142923 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 143059 143059 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 143066 143066 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000195.1 143826 143826 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 2286 2286 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 2794 2794 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 2809 2809 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 2823 2823 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 3202 3202 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 3213 3213 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 3225 3225 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 4736 4736 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 4833 4833 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 4923 4923 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 5005 5005 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6313 6313 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6338 6338 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6513 6513 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6623 6623 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6626 6626 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6841 6841 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6852 6852 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 6930 6930 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 7002 7002 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 7015 7015 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 7089 7089 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 35319 35319 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 36107 36107 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 82788 82788 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 136038 136038 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 136251 136251 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000212.1 138469 138469 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000193.1 77475 77475 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000193.1 90948 90948 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 3143 3143 G C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 11224 11224 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 11304 11304 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 56183 56183 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 56462 56462 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 56472 56472 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 56924 56924 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 56940 56940 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 58531 58531 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 58592 58592 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000194.1 58593 58593 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23416 23416 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23422 23422 A T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23482 23482 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23601 23601 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23730 23730 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23796 23796 T G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23812 23812 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23892 23892 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 23893 23893 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30052 30052 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30114 30114 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30171 30171 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30206 30206 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30282 30282 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30302 30302 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30353 30353 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30430 30430 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30450 30450 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30463 30463 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30527 30527 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30535 30535 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30551 30551 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30576 30576 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30594 30594 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30658 30658 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30659 30659 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30742 30742 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30827 30827 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30852 30852 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 30855 30855 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36463 36463 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36486 36486 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36491 36491 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36596 36596 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36627 36627 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36646 36646 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36647 36647 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36660 36660 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36679 36679 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36690 36690 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36710 36710 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36782 36782 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36810 36810 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 36954 36954 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 37589 37589 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 37605 37605 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 37607 37607 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 37672 37672 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 52844 52844 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 53190 53190 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 53216 53216 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 53472 53472 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 54097 54097 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58143 58143 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58154 58154 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58202 58202 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58334 58334 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58393 58393 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58438 58438 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58449 58449 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58458 58458 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58541 58541 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58627 58627 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58644 58644 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 58669 58669 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64301 64301 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64344 64344 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64405 64405 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64427 64427 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64532 64532 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64607 64607 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64657 64657 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64677 64677 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64685 64685 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64688 64688 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64725 64725 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64754 64754 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64766 64766 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64899 64899 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 64918 64918 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 72420 72420 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 72639 72639 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 72657 72657 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 72779 72779 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 72828 72828 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 73175 73175 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79301 79301 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79338 79338 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79411 79411 T A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79419 79419 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79508 79508 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79533 79533 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79554 79554 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79562 79562 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79607 79607 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79795 79795 C G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79846 79846 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79848 79848 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79942 79942 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79943 79943 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 79977 79977 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90070 90070 G T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90080 90080 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90195 90195 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90219 90219 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90282 90282 C A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90324 90324 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90351 90351 G A intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90393 90393 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90401 90401 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90426 90426 A G intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000225.1 90427 90427 C T intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000192.1 101228 101228 T C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 GL000192.1 101317 101317 A C intergenic NONE,NONE dist=NONE;dist=NONE NA NA intergenic NONE,NONE dist=NONE;dist=NONE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.3333334 1219 1 1650657 1650657 C G intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs72909028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.044863 NA NA NA NA NA 0.036 NA 4.3333333 1219 1 1650960 1650960 G A intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs72634834 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058714 NA NA NA NA NA 0.022 NA 4.3333333 1219 1 1650967 1650967 T C intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs75384210 NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.219405 NA NA NA NA NA 0.043 NA 4.3333333 1219 1 1650996 1650996 T C intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs74223875 NA NA 0.42 0.000199681 NA NA NA 0.0008 NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598427 NA NA NA NA NA 0.377 NA 4.3333333 1219 1 1651003 1651003 G A intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs76941027 NA NA 0.42 0.000399361 NA NA NA 0.0008 0.001 NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98149 NA NA NA NA NA 0.377 NA 4.3333333 1219 1 144863505 144863505 A G intronic NBPF9,PDE4DIP NA NA NA ncRNA_intronic ENSG00000255148 NA NA NA NA NA 1q21.1 NA NA NA NA rs642016 NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584531 NA NA NA NA NA 0.167 NA 4.3333333 1219 1 144863613 144863613 C T intronic NBPF9,PDE4DIP NA NA NA ncRNA_intronic ENSG00000255148 NA NA NA NA NA 1q21.1 NA NA NA NA rs1699812 NA NA 0.32 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532319 NA NA NA NA NA 0.5 NA 4.3333333 1219 1 144865627 144865627 T C intronic NBPF9,PDE4DIP NA NA NA ncRNA_intronic ENSG00000255148 NA NA NA NA NA 1q21.1 NA NA NA NA rs745937 NA NA 0.224 NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107938 NA NA NA NA NA 0.225 NA 4.3333333 1219 1 144877366 144877366 A G intronic NBPF9,PDE4DIP NA NA NA ncRNA_exonic ENSG00000266739 NA NA NA NA NA 1q21.1 NA NA NA NA rs1807092 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252209 1.252209 NA NA NA NA 0.5 NA 4.3333333 1219 2 39038213 39038213 G C intronic DHX57 NA NA NA ncRNA_exonic ENSG00000223922 NA NA NA Score=751;Name=lod=1503 NA 2p22.1 NA NA NA NA rs3099970 0.95 0.95 0.948 0.9373 1 1 0.9841 0.7708 1 1 1 0.99 0.8 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350302 NA NA NA NA NA 0.949 NA 4.3333333 1219 3 187442662 187442662 G C ncRNA_intronic LOC100131635 NA NA NA intronic ENSG00000113916,ENSG00000228804 NA NA NA NA NA 3q27.3 NA NA NA NA rs79388315 0.06 0.06 0.03 NA NA NA NA NA NA 0.04 0.06 0.13 0.04 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253606 1.253606 NA NA NA NA NA NA 4.3333333 1219 3 195453562 195453562 A C intronic MUC20 NA NA NA ncRNA_intronic ENSG00000242086 NA NA NA NA NA 3q29 NA NA NA NA rs2550234 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096949 NA NA NA NA NA 0.239 NA 4.3333333 1219 5 79369213 79369213 G T intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs3749685 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.256443 NA NA NA NA NA 0.109 NA 4.3333333 1219 5 147649568 147649568 G C intronic SPINK13 NA NA NA ncRNA_intronic ENSG00000247199 NA NA NA NA NA 5q32 NA NA NA NA rs2304030 0.19 0.19 0.2 NA NA NA NA NA NA 0.02 0.29 0.07 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655061 NA NA NA NA NA 0.181 NA 4.3333333 1219 11 18267373 18267373 C T intronic SAA2,SAA2-SAA4 NA NA NA ncRNA_intronic ENSG00000255071 NA NA NA NA NA 11p15.1 NA NA NA NA rs1671927 0.74 0.74 0.682 NA NA NA NA NA NA 0.83 0.81 0.71 0.51 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369794 NA NA NA NA NA 0.667 NA 4.3333333 1219 11 56507816 56507816 A C intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA NA NA 11q12.1 NA NA NA NA rs200224092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072351 NA NA NA NA NA NA NA 4.3333333 1219 11 56507852 56507852 A G intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA NA NA 11q12.1 NA NA NA NA rs74213568 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.832435 NA NA NA NA NA NA NA 4.3333333 1219 15 76552958 76552958 A G intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA NA NA 15q24.2 NA NA NA NA rs79823946 NA NA 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247635 NA NA NA NA NA NA NA 4.3333333 1219 15 76553283 76553283 C T intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA NA NA 15q24.2 NA NA NA NA rs113276005 NA NA 0.071 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.076694 NA NA NA NA NA 0.029 NA 4.3333333 1219 15 76553289 76553289 G A intronic ETFA NA NA NA ncRNA_exonic ENSG00000259581 NA NA NA NA NA 15q24.2 NA NA NA NA rs112025989 NA NA 0.058 NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402791 NA NA NA NA NA 0.029 NA 4.3333333 1219 16 600768 600768 C T intronic SOLH NA NA NA ncRNA_intronic ENSG00000261691 NA NA NA NA NA 16p13.3 NA NA NA NA rs148282840 NA NA 0.197 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156434 NA NA NA NA NA NA NA 4.3333333 1219 16 600840 600840 T G intronic SOLH NA NA NA ncRNA_intronic ENSG00000261691 NA NA NA NA NA 16p13.3 NA NA NA NA rs113523397 NA NA 0.221 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067567 NA NA NA NA NA NA NA 4.3333333 1219 16 600843 600843 C T intronic SOLH NA NA NA ncRNA_intronic ENSG00000261691 NA NA NA NA NA 16p13.3 NA NA NA NA rs111294892 NA NA 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128495 NA NA NA NA NA NA NA 4.3333333 1219 17 36398142 36398142 T A ncRNA_intronic LOC440434 NA NA NA intronic ENSG00000174093 NA NA NA NA NA 17q12 NA NA NA NA rs138180351 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462241 NA NA NA NA NA 0.022 NA 4.3333333 1219 20 29628158 29628158 G A ncRNA_intronic FRG1B NA NA NA intronic ENSG00000149531 NA NA NA NA NA 20q11.21 NA NA NA NA rs73605203 NA NA 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434508 NA NA NA NA NA NA NA 4.3333333 1219 20 29628164 29628164 G A ncRNA_intronic FRG1B NA NA NA intronic ENSG00000149531 NA NA NA NA NA 20q11.21 NA NA NA NA rs62199575 NA NA 0.651 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38479 NA NA NA NA NA NA NA 4.3333333 1219 21 11040748 11040748 G A intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA NA NA rs2775304 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.945607 NA NA NA NA NA 0.217 NA 4.3333333 1219 21 11047441 11047441 T C intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA NA NA rs3906136 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165171 NA NA NA NA ID=COSN166604;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.254 NA 4.3333333 1219 21 11049395 11049395 T C intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA NA NA rs467462 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147172 NA NA NA NA NA 0.601 NA 4.3333333 1219 21 40607920 40607920 G A intronic BRWD1 NA NA NA ncRNA_exonic ENSG00000229623 NA NA NA NA NA 21q22.2 NA NA NA NA rs185570572 0.0018 0.0018 NA 0.000798722 NA 0.001 0.0043 NA NA NA 0.0035 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881326 NA NA NA NA NA NA NA 4.3333333 1219 X 1748581 1748581 A C intronic ASMT NA NA NA ncRNA_intronic ENSG00000249358 NA NA NA NA NA Xp22.33 NA NA NA NA rs6588807 0.37 0.37 0.36804 NA NA NA NA NA NA 0.35 0.36 0.31 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956652 NA NA NA NA NA 0.391 NA 4.3333333 1219 X 1748910 1748910 T C intronic ASMT NA NA NA ncRNA_intronic ENSG00000249358 NA NA NA NA NA Xp22.33 NA NA NA NA rs28675287 0.21 0.21 0.16773 NA NA NA NA NA NA 0.16 0.4 0.17 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787812 NA NA NA NA NA 0.159 NA 4.3333333 1219 X 1755236 1755236 G A intronic ASMT NA NA NA ncRNA_exonic ENSG00000249358 NA NA NA NA NA Xp22.33 NA NA NA NA rs4639690 0.36 0.36 0.37997 NA NA NA NA NA NA 0.32 0.41 0.29 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07268 NA NA NA NA NA 0.319 NA 4.3333333 1219 X 2692597 2692597 T C ncRNA_intronic XGPY2 NA NA NA intronic ENSG00000124343 NA NA NA NA NA Xp22.33 NA NA NA NA rs311157 0.54 0.54 0.50477 NA NA NA NA NA NA 0.49 0.54 0.5 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910467 NA NA NA NA NA 0.522 NA 4.3333333 1219 3 189587091 189587091 A G intronic TP63 NA NA NA intronic ENSG00000073282 NA NA NA NA NA 3q28 NA NA Name=9 NA rs6789961 0.29 0.29 0.296 0.3123 0.2157 0.1468 0.2046 0.6604 0.1881 0.21 0.14 0.23 0.62 0.2311 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984742 NA NA 0.22 0.571266 ID=COSN167117;OCCURENCE=1(large_intestine) 0.377 NA 4.3332 1219 17 6690583 6690583 G A intronic FBXO39 NA NA NA intronic ENSG00000177294 NA NA NA NA NA 17p13.1 NA NA Name=23 NA rs5016848 0.32 0.32 0.252 0.30631 0.2028 0.5813 0.3012 0.1891 0.2914 0.2 0.62 0.26 0.22 0.2552 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736083 NA NA 0.20907 0.197912 NA 0.246 NA 4.33293 1219 12 57649731 57649731 G T intronic R3HDM2 NA NA NA ncRNA_intronic ENSG00000258830 NA NA NA NA NA 12q13.3 NA NA NA NA rs200593019 0 0 NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0003 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685846 NA NA 0.000349 0 NA NA NA 4.3326843 1219 1 55378583 55378583 A G intergenic DHCR24,TMEM61 dist=25662;dist=67882 NA NA intergenic ENSG00000233203,ENSG00000143001 dist=24060;dist=67882 NA NA NA NA 1p32.3 NA NA NA NA NA NA NA NA 0.000599042 0.001 NA NA 0.0015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234269 NA NA NA NA NA NA NA 4.3323334 1219 1 120336890 120336890 C G UTR3 REG4 NM_001159352:c.*351G>C,NM_032044:c.*351G>C NA NA UTR3 ENSG00000134193 ENST00000354219:c.*351G>C,ENST00000256585:c.*351G>C NA NA NA NA 1p12 NA NA NA NA rs7540526 0.03 0.03 0.04 0.0319489 0.001 NA 0.0115 0.1142 NA 0.0013 NA 0.02 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182024 NA NA NA NA NA 0.029 NA 4.3323334 1219 17 21217596 21217596 C G UTR3 MAP2K3 NM_145109:c.*54C>G,NM_002756:c.*54C>G NA NA UTR3 ENSG00000034152 ENST00000342679:c.*54C>G,ENST00000395491:c.*1082C>G,ENST00000496046:c.*524C>G,ENST00000361818:c.*54C>G,ENST00000316920:c.*54C>G NA NA NA NA 17p11.2 NA NA NA NA rs2363373 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769885 NA NA NA NA NA 0.145 NA 4.3323334 1219 22 51015210 51015210 G C ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA NA NA rs140515 0.74 0.74 0.731 0.00399361 0.001 NA 0.0043 0.003 0.0123 0.58 0.98 0.69 0.76 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.342568 NA NA NA NA NA 0.87 NA 4.3323333 1219 6 5973295 5973295 T C intergenic FARS2,NRN1 dist=201479;dist=24938 NA NA ncRNA_exonic ENSG00000215057 NA NA NA Score=765;Name=lod=1710 NA 6p25.1 NA NA NA NA rs9392734 0.68 0.68 0.69 0.684105 0.668 0.4891 0.6571 0.9153 0.6084 0.67 0.48 0.66 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241176 1.241176 NA NA NA NA 0.797 NA 4.332 1219 10 15014418 15014418 C G intronic MEIG1 NA NA NA intronic ENSG00000197889 NA NA NA NA NA 10p13 NA Name=CTCF NA NA rs1935400 0.6 0.6 0.578 0.63758 0.668 0.4752 0.7406 0.6437 0.6922 0.66 0.45 0.74 0.58 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.286868 NA NA NA NA ID=COSN163563;OCCURENCE=1(breast) 0.645 NA 4.332 1219 10 15014440 15014440 A G intronic MEIG1 NA NA NA intronic ENSG00000197889 NA NA NA NA NA 10p13 NA Name=CTCF NA NA rs1935399 0.6 0.6 0.57 0.639577 0.668 0.4752 0.7435 0.6498 0.6922 0.66 0.45 0.74 0.58 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320147 NA NA NA NA ID=COSN163564;OCCURENCE=1(breast),1(endometrium) 0.645 NA 4.332 1219 12 58068571 58068571 G A intergenic B4GALNT1,OS9 dist=41549;dist=19167 NA NA ncRNA_exonic ENSG00000242990 NA NA NA Score=657;Name=lod=622 NA 12q13.3 NA NA NA NA rs774891 0.55 0.55 0.538 0.523163 0.668 0.3929 0.6254 0.5227 0.4366 0.65 0.34 0.65 0.57 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121024 NA NA NA NA NA 0.587 NA 4.332 1219 15 66794352 66794352 G A intronic RPL4 NA NA NA intronic ENSG00000174444 NA NA NA NA NA 15q22.31 NA NA Name=6 NA rs74956204 0.14 0.14 0.112 0.157748 0.2286 0.1696 0.147 0.0166 0.271 0.22 0.11 0.19 0.01 0.2084 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080148 NA NA 0.23104 0.053082 NA 0.203 NA 4.33196 1219 1 186113617 186113617 A T ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs200930507 0 0 NA 0.000798722 0.001 NA 0.0043 NA NA NA NA NA NA 0.0004 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.217685 NA NA 0.000116 0 NA NA NA 4.3318173 1219 16 29342546 29342546 T C ncRNA_intronic SNX29P2 NA NA NA ncRNA_intronic ENSG00000198106,ENSG00000260413 NA NA NA NA NA 16p11.2 NA NA NA NA rs9745639 0.42 0.42 0.344 0.563698 0.335 0.6062 0.5101 0.7421 0.5521 0.28 0.5 0.36 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223723 NA NA NA NA NA 0.174 NA 4.3316666 1219 1 113992930 113992930 G A intronic MAGI3 NA NA NA ncRNA_exonic ENSG00000232499 NA NA NA NA NA 1p13.2 NA NA NA NA rs184529904 0.0014 0.0014 NA 0.00179712 0.002 NA 0.0101 NA NA 0.0013 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172416 NA NA NA NA NA NA NA 4.3313333 1219 2 100916315 100916315 A G exonic LONRF2 NA synonymous SNV LONRF2:NM_198461:exon5:c.T1131C:p.G377G exonic ENSG00000170500 NA synonymous SNV ENSG00000170500:ENST00000393437:exon5:c.T1131C:p.G377G,ENSG00000170500:ENST00000409647:exon5:c.T402C:p.G134G NA NA 2q11.2 NA NA NA NA rs11123823 0.34 0.34 0.336 0.290735 0.4851 0.4851 0.2392 0.028 0.2822 0.48 0.49 0.25 0.03 0.3865 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579077 NA NA 0.463837 0.107127 ID=COSM148913;OCCURENCE=1(stomach) 0.297 NA 4.3312296 1219 22 45731182 45731182 C T intronic FAM118A NA NA NA intronic ENSG00000100376 NA NA NA NA NA 22q13.31 NA Name=CTCF,Rad21,NRSF,CTCF_(SC-5916) Name=33 NA rs738176 0.39 0.39 0.369 0.315695 0.5865 0.3175 0.5014 0.0371 0.2802 0.6 0.37 0.46 0.05 0.4817 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184814 NA NA 0.600581 0.123922 NA 0.239 NA 4.331219 1219 15 60678160 60678160 G A intronic ANXA2 NA NA NA intronic ENSG00000182718 NA NA NA NA NA 15q22.2 NA NA Name=6 NA rs3743268 0.3 0.3 0.26 0.26857 0.3429 0.4454 0.3069 0.031 0.3037 0.33 0.46 0.33 0.04 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294621 NA NA 0.325896 0.080202 NA 0.152 NA 4.331204 1219 1 55145554 55145554 T C ncRNA_intronic HEATR8-TTC4 NA NA NA intronic ENSG00000184313,ENSG00000271723 NA NA NA NA NA 1p32.3 NA NA NA NA rs17110931 0.0041 0.0041 0.004 0.00778754 NA NA NA 0.0295 NA NA NA NA 0.02 0.0021 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.888473 2.888473 NA 0.000241 0.021425 NA 0.007 NA 4.3309923 1219 2 95522747 95522747 C G ncRNA_exonic ANKRD20A8P NA NA NA ncRNA_exonic ENSG00000229089 NA NA NA NA NA 2q11.1 NA NA NA NA rs10874467 0.41 0.41 0.346 0.422524 0.336 0.4722 0.4481 0.5159 0.316 0.32 0.46 0.38 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570999 NA NA NA NA ID=COSM443360;OCCURENCE=1(breast) NA NA 4.3306666 1219 7 134925411 134925411 G A exonic STRA8 NA synonymous SNV STRA8:NM_182489:exon2:c.G201A:p.A67A exonic ENSG00000146857 NA synonymous SNV ENSG00000146857:ENST00000275764:exon2:c.G201A:p.A67A NA NA 7q33 NA NA NA NA rs7805859 0.37 0.37 0.356 0.390775 0.4553 0.2133 0.4063 0.3487 0.5532 0.46 0.21 0.4 0.4 0.4322 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029759 NA NA 0.448605 0.369723 NA 0.464 NA 4.3305616 1219 7 20768013 20768013 G A exonic ABCB5 NA synonymous SNV ABCB5:NM_178559:exon14:c.G1467A:p.A489A,ABCB5:NM_001163941:exon23:c.G2802A:p.A934A exonic ENSG00000004846 NA synonymous SNV ENSG00000004846:ENST00000441315:exon3:c.G303A:p.A101A,ENSG00000004846:ENST00000258738:exon14:c.G1467A:p.A489A,ENSG00000004846:ENST00000404938:exon23:c.G2802A:p.A934A NA NA 7p21.1 NA NA NA NA rs10254317 0.62 0.62 0.607 0.596046 0.4294 0.6905 0.67 0.789 0.3569 0.43 0.72 0.64 0.79 0.4891 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849121 NA NA 0.417674 0.725601 NA 0.732 NA 4.3304926 1219 17 80559400 80559400 G A UTR3 FOXK2 NM_004514:c.*25G>A NA NA UTR3 ENSG00000141568 ENST00000473637:c.*573G>A,ENST00000335255:c.*25G>A NA NA NA NA 17q25.3 NA NA NA NA rs369200935 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0014 0.0015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181889 NA NA 0.001512 0.000454 NA NA NA 4.3304214 1219 1 153431506 153431506 C G UTR5 S100A7 NM_002963:c.-17G>C NA NA UTR5 ENSG00000143556 ENST00000368723:c.-17G>C,ENST00000368722:c.-17G>C NA NA NA NA 1q21.3 NA NA NA NA rs41323044 NA NA NA 0.00139776 0.002 0.002 0.0014 0.0015 NA NA NA NA NA 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753918 NA NA NA NA NA NA NA 4.3303334 1219 3 186793647 186793647 C A UTR3 ST6GAL1 NM_173216:c.*56C>A,NM_173217:c.*56C>A,NM_003032:c.*56C>A NA NA UTR3 ENSG00000073849 ENST00000169298:c.*56C>A,ENST00000457772:c.*56C>A,ENST00000448044:c.*56C>A NA NA NA NA 3q27.3 NA NA NA NA rs112812625 0.01 0.01 0.011 0.00958466 0.003 NA 0.0173 0.0227 0.0031 0.0026 NA 0.02 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.89152 NA NA NA NA NA NA NA 4.3303334 1219 1 171561002 171561002 G A UTR3 PRRC2C NM_015172:c.*16G>A NA NA UTR3 ENSG00000117523 ENST00000367742:c.*16G>A,ENST00000338920:c.*16G>A,ENST00000495585:c.*16G>A NA NA NA NA 1q24.3 NA NA NA NA rs199644701 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0012 0.0018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5321 NA NA 0.001836 0.000813 NA NA NA 4.3302974 1219 9 137004956 137004956 C T UTR5 WDR5 NM_017588:c.-44C>T,NM_052821:c.-44C>T NA NA UTR5 ENSG00000196363 ENST00000358625:c.-44C>T,ENST00000425041:c.-44C>T NA NA NA NA 9q34.2 NA NA NA NA rs189773125 0.0009 0.0009 NA 0.000798722 0.002 NA 0.0029 NA NA NA NA 0.01 NA 0.0007 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15649 NA NA 0.000584 0.000227 NA NA NA 4.3300494 1219 1 157606294 157606294 T A intergenic FCRL4,FCRL3 dist=38424;dist=41684 NA NA ncRNA_exonic ENSG00000233712 NA NA NA NA NA 1q23.1 Score=803;Name=V$HTF_01 NA NA NA rs2248138 0.76 0.76 0.761 0.774361 0.67 0.8165 0.7378 0.8767 0.726 0.68 0.83 0.71 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749897 NA NA NA NA NA 0.703 NA 4.33 1219 6 5973890 5973890 A G intergenic FARS2,NRN1 dist=202074;dist=24343 NA NA ncRNA_exonic ENSG00000215057 NA NA NA Score=620;Name=lod=440 NA 6p25.1 NA NA NA NA rs7763207 0.68 0.68 0.696 0.682109 0.67 0.4881 0.6571 0.907 0.6084 0.68 0.48 0.66 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112936 NA NA NA NA NA 0.797 NA 4.33 1219 2 29940529 29940529 A T exonic ALK NA synonymous SNV ALK:NM_004304:exon2:c.T702A:p.P234P exonic ENSG00000171094 NA synonymous SNV ENSG00000171094:ENST00000389048:exon2:c.T702A:p.P234P,ENSG00000171094:ENST00000431873:exon2:c.T702A:p.P234P Score=295;Name=lod=21 NA 2p23.2 NA NA NA NA rs2246745 0.64 0.64 0.615 0.589257 0.7913 0.7827 0.6902 0.1513 0.7025 0.79 0.8 0.73 0.17 0.7335 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302086 NA NA 0.811977 0.266001 NA 0.572 NA 4.3298896 1219 12 50599709 50599709 T C intronic LIMA1 NA NA NA intronic ENSG00000050405 NA NA NA NA NA 12q13.12 NA NA Name=6 NA rs2302900 0.25 0.25 0.248 0.286342 0.33 0.0764 0.2435 0.2973 0.4734 0.33 0.08 0.25 0.31 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191795 NA NA 0.340352 0.294075 NA 0.246 NA 4.329648 1219 3 185431377 185431377 G A ncRNA_intronic C3orf65 NA NA NA intronic ENSG00000073792,ENSG00000163915 NA NA NA NA NA 3q27.2 NA NA NA NA rs185464872 0.0032 0.0032 NA 0.00199681 0.004 NA 0.0086 NA NA 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146679 NA NA NA NA NA 0.007 NA 4.3293333 1219 7 23851038 23851038 C T intronic STK31 NA NA NA ncRNA_exonic ENSG00000231328 NA NA NA NA NA 7p15.3 NA NA NA NA rs180955370 0.0018 0.0018 NA 0.00199681 0.004 NA 0.0029 NA 0.0041 0.0026 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.644821 NA NA NA NA NA NA NA 4.3293333 1219 13 25064749 25064749 G A intronic PARP4 NA NA NA ncRNA_intronic ENSG00000243008 NA NA NA NA NA 13q12.12 NA NA NA NA rs117076504 0.0032 0.0032 0.002 0.00179712 0.004 NA 0.0058 0.0008 NA 0.004 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186286 NA NA NA NA NA NA NA 4.3293333 1219 2 197171104 197171104 G A intronic HECW2 NA NA NA intronic ENSG00000138411 NA NA NA Score=259;Name=lod=15 NA 2q32.3 NA NA NA NA rs6729640 0.64 0.64 0.602 0.601837 0.671 0.7817 0.719 0.3744 0.5695 0.67 0.78 0.65 0.41 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.965985 1.965985 NA NA NA NA 0.493 NA 4.329 1219 4 9694662 9694662 T C intergenic MIR548I2,DRD5 dist=136725;dist=88596 NA NA ncRNA_intronic ENSG00000186234 NA NA NA NA NA 4p16.1 NA Name=FOSL2 NA NA rs13103452 0.47 0.47 0.457 0.409944 0.671 0.4524 0.4798 0.0961 0.4724 0.66 0.45 0.56 0.13 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243428 NA NA NA NA NA 0.377 NA 4.329 1219 10 69634202 69634202 A G intergenic DNAJC12,SIRT1 dist=36265;dist=10225 NA NA ncRNA_exonic ENSG00000219932 NA NA NA Score=733;Name=lod=1272 NA 10q21.3 NA NA NA NA rs10997847 0.52 0.52 0.481 0.496406 0.671 0.1577 0.5403 0.6483 0.4294 0.67 0.17 0.57 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127383 NA NA NA NA NA 0.565 NA 4.329 1219 10 69634366 69634366 A C intergenic DNAJC12,SIRT1 dist=36429;dist=10061 NA NA ncRNA_exonic ENSG00000219932 NA NA NA Score=733;Name=lod=1272 NA 10q21.3 NA NA NA NA rs9794431 0.5 0.5 0.465 0.495607 0.671 0.1577 0.5389 0.6467 0.4284 0.65 0.16 0.56 0.63 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672699 NA NA NA NA NA 0.659 NA 4.329 1219 10 121678896 121678896 C G intronic SEC23IP NA NA NA intronic ENSG00000107651 NA NA NA NA NA 10q26.11 NA NA Name=25 NA rs2475300 0.74 0.74 0.735 0.751198 0.671 0.8363 0.7248 0.7821 0.7229 0.68 0.84 0.69 0.75 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096992 NA NA NA NA NA 0.739 NA 4.329 1219 19 23405457 23405457 T G intergenic ZNF730,ZNF724P dist=75443;dist=1150 NA NA exonic ENSG00000196081 NA synonymous SNV ENSG00000196081:ENST00000418100:exon4:c.A1590C:p.G530G Score=417;Name=lod=66 NA 19p12 NA NA NA NA rs10411741 0.57 0.57 0.498 0.542532 0.6014 0.6637 0.6484 0.3268 0.5736 0.62 0.67 0.6 0.33 0.5697 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16705 NA NA NA NA NA 0.428 NA 4.3289 1219 10 96043732 96043732 A G ncRNA_intronic PLCE1-AS1 NA NA NA ncRNA_intronic ENSG00000268894 NA NA NA NA NA 10q23.33 NA NA NA NA rs7084339 0.3 0.3 0.324 0.317292 0.338 0.2401 0.2161 0.4637 0.2495 0.32 0.2 0.22 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972199 NA NA NA NA NA 0.326 NA 4.3286666 1219 9 77562903 77562903 C T UTR3 C9orf40 NM_017998:c.*61G>A NA NA UTR3 ENSG00000135045 ENST00000376854:c.*61G>A NA NA NA NA 9q21.13 NA NA NA NA rs140264373 0.0014 0.0014 0.001 0.00139776 0.005 NA 0.0029 NA NA 0.0026 NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200028 NA NA NA NA NA NA NA 4.3283334 1219 11 134522947 134522947 C G intergenic LOC283177,NONE dist=147392;dist=NONE NA NA intergenic ENSG00000254573,ENSG00000254989 dist=79997;dist=18373 NA NA NA NA 11q25 NA NA NA NA NA NA NA NA 0.00219649 0.005 NA 0.0014 0.0008 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960519 NA NA NA NA NA NA NA 4.3283334 1219 7 129842270 129842270 G T intronic TMEM209 NA NA NA ncRNA_intronic ENSG00000240571 NA NA NA NA NA 7q32.2 NA NA NA NA rs116784448 0.01 0.01 0.015 0.0125799 0.005 NA 0.0058 0.0325 0.0112 0.01 NA 0.01 0.03 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343337 NA NA NA NA NA 0.029 NA 4.3283333 1219 2 173351962 173351962 T G intronic ITGA6 NA NA NA ncRNA_intronic ENSG00000225205 NA NA NA NA NA 2q31.1 NA NA NA NA rs114431200 0.01 0.01 0.011 0.0167732 NA NA 0.0043 0.0613 NA NA NA 0.01 0.05 0.0048 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385531 NA NA 0.00035 0.0513 NA 0.029 NA 4.3281833 1219 2 113940681 113940681 T C exonic PSD4 NA synonymous SNV PSD4:NM_012455:exon2:c.T648C:p.S216S exonic ENSG00000125637 NA synonymous SNV ENSG00000125637:ENST00000245796:exon2:c.T648C:p.S216S,ENSG00000125637:ENST00000441564:exon2:c.T648C:p.S216S NA NA 2q13 NA NA NA NA rs3748914 0.58 0.58 0.558 0.57528 0.4423 0.6042 0.5173 0.7375 0.5041 0.46 0.62 0.53 0.75 0.4877 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425929 NA NA 0.408488 0.68611 ID=COSM441019;OCCURENCE=1(breast) 0.601 NA 4.3281786 1219 17 7286326 7286326 T A exonic TNK1 NA synonymous SNV TNK1:NM_001251902:exon2:c.T81A:p.L27L,TNK1:NM_003985:exon2:c.T81A:p.L27L exonic ENSG00000174292 NA synonymous SNV ENSG00000174292:ENST00000311668:exon2:c.T81A:p.L27L,ENSG00000174292:ENST00000576207:exon2:c.T81A:p.L27L,ENSG00000174292:ENST00000576812:exon2:c.T81A:p.L27L,ENSG00000174292:ENST00000570896:exon3:c.T81A:p.L27L NA NA 17p13.1 NA NA NA NA rs1554948 0.36 0.36 0.329 0.384585 0.4533 0.2579 0.3314 0.2965 0.6012 0.44 0.23 0.37 0.36 0.4243 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.591279 1.591279 NA 0.46096 0.314392 NA 0.442 NA 4.3281066 1219 9 84607758 84607758 T A exonic SPATA31D1 NA synonymous SNV SPATA31D1:NM_001001670:exon4:c.T2373A:p.T791T exonic ENSG00000214929 NA synonymous SNV ENSG00000214929:ENST00000344803:exon4:c.T2373A:p.T791T NA NA 9q21.32 NA NA NA NA rs10867826 0.59 0.59 0.636 0.624201 0.4473 0.7024 0.4294 0.975 0.3896 0.4 0.66 0.4 0.95 0.4642 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274372 NA NA 0.427167 0.890282 NA 0.623 NA 4.3279996 1219 1 26496870 26496870 A G intronic ZNF593 NA NA NA ncRNA_exonic ENSG00000236782 NA NA NA NA NA 1p36.11 NA NA Name=16 NA rs2232654 0.44 0.44 0.411 0.460863 0.3161 0.6429 0.5259 0.348 0.5286 0.31 0.66 0.49 0.36 0.3859 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588673 NA NA 0.303721 0.380163 NA 0.442 NA 4.3276123 1219 8 125062071 125062071 C G intronic FER1L6 NA NA NA ncRNA_intronic ENSG00000253868 NA NA NA NA NA 8q24.13 NA NA NA NA rs138771662 0.0027 0.0027 0.002 0.00139776 0.006 NA NA NA 0.001 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068849 NA NA NA NA NA NA NA 4.3273333 1219 19 3546195 3546195 G A intronic MFSD12 NA NA NA ncRNA_intronic ENSG00000267436 NA NA NA NA NA 19p13.3 NA NA NA NA rs45558233 0.01 0.01 0.009 0.00559105 0.003 0.003 NA 0.0166 NA 0.004 0.0017 NA 0.02 0.0021 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304583 NA NA 0.000941 0.017483 NA 0.007 NA 4.3272923 1219 1 228497053 228497053 A G intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA Name=CTCF NA NA rs379620 0.71 0.71 0.702 0.698682 0.673 0.746 0.7147 0.8661 0.4387 0.65 0.72 0.7 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123154 NA NA NA NA NA 0.674 NA 4.327 1219 2 102137903 102137903 G C intergenic RFX8,MAP4K4 dist=46738;dist=176262 NA NA ncRNA_exonic ENSG00000232556 NA NA NA Score=661;Name=lod=647 NA 2q11.2 NA NA NA NA rs1848699 0.57 0.57 0.583 0.578474 0.673 0.5238 0.4078 0.6021 0.6268 0.66 0.49 0.47 0.59 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828477 NA NA NA NA NA 0.543 NA 4.327 1219 6 76028757 76028757 G A intronic FILIP1 NA NA NA intronic ENSG00000118407 NA NA NA Score=719;Name=lod=1115 NA 6q14.1 NA NA NA NA rs4295446 0.61 0.61 NA 0.634984 0.673 0.4712 0.6124 0.7057 0.6851 0.67 0.44 0.63 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892502 NA NA NA NA NA 0.703 NA 4.327 1219 14 21190532 21190532 T C intergenic RNASE4,EDDM3A dist=21774;dist=23567 NA NA ncRNA_exonic ENSG00000259144 NA NA NA Score=728;Name=lod=1210 NA 14q11.2 NA NA NA NA rs7157537 0.67 0.67 0.62 0.658746 0.673 0.7698 0.7262 0.466 0.7423 0.66 0.74 0.73 0.57 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611842 NA NA NA NA NA 0.63 NA 4.327 1219 12 64488640 64488640 C T intronic SRGAP1 NA NA NA ncRNA_intronic ENSG00000255886 NA NA NA NA NA 12q14.2 NA NA NA NA rs145882082 0.0032 0.0032 0.001 0.00179712 0.007 NA 0.0029 NA NA 0.01 NA 0.01 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276836 NA NA NA NA NA 0.007 NA 4.3263333 1219 5 110491712 110491712 T C intergenic WDR36,CAMK4 dist=25512;dist=68235 NA NA ncRNA_intronic ENSG00000250728 NA NA NA Score=483;Name=lod=122 NA 5q22.1 NA NA NA NA rs183699 0.59 0.59 0.573 0.632987 0.674 0.4177 0.6873 0.6762 0.7157 0.67 0.4 0.67 0.63 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094074 NA NA NA NA NA 0.63 NA 4.326 1219 6 27375611 27375611 A C intergenic ZNF391,ZNF184 dist=6384;dist=42910 NA NA ncRNA_exonic ENSG00000237154 NA NA NA Score=654;Name=lod=607 NA 6p22.1 NA NA NA NA rs2076305 0.61 0.61 0.607 0.623203 0.674 0.5804 0.6758 0.5083 0.7331 0.67 0.55 0.65 0.55 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069267 NA NA NA NA NA 0.601 NA 4.326 1219 9 7597988 7597988 C T intergenic KDM4C,C9orf123 dist=422340;dist=198503 NA NA ncRNA_exonic ENSG00000178654 NA NA NA Score=671;Name=lod=711 NA 9p24.1 NA NA NA NA rs10976432 0.62 0.62 0.597 0.631789 0.674 0.6012 0.6282 0.6036 0.6605 0.68 0.6 0.59 0.57 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.607433 2.607433 NA NA NA NA 0.674 NA 4.326 1219 14 21190526 21190526 A C intergenic RNASE4,EDDM3A dist=21768;dist=23573 NA NA ncRNA_exonic ENSG00000259144 NA NA NA Score=728;Name=lod=1210 NA 14q11.2 NA NA NA NA rs7152823 0.67 0.67 0.608 0.65655 0.674 0.7698 0.7176 0.4622 0.7413 0.66 0.74 0.73 0.57 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43283 NA NA NA NA NA 0.609 NA 4.326 1219 7 143028536 143028536 G A intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA Name=p300 NA NA rs2242493 0.68 0.68 0.654 0.641773 0.674 0.8294 0.6974 0.4985 0.5695 0.66 0.84 0.69 0.5 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877617 NA NA NA NA NA 0.725 NA 4.326 1219 12 11420375 11420375 G A intronic PRB3 NA NA NA exonic ENSG00000197870 NA nonsynonymous SNV ENSG00000197870:ENST00000381842:exon4:c.C682T:p.P228S,ENSG00000197870:ENST00000538488:exon5:c.C682T:p.P228S NA NA 12p13.2 NA NA NA NA rs11054201 0.8 0.8 0.819 0.806709 0.9553 0.7034 0.9524 0.6543 0.863 0.96 0.67 0.95 0.61 0.9144 0.97 0.16 T . . . . . . 1.000 P . . 3.23 T -1.014 T 0.000 T 0.255 0.612 7.297 1.26 0.996 -0.004 8.457 0.612193 NA 0.36 0.971179 0.725984 NA 0.435 NA 4.3257877 1219 6 1726623 1726623 C T intronic GMDS NA NA NA intronic ENSG00000112699 NA NA NA NA NA 6p25.3 Score=809;Name=V$SRF_C NA NA NA rs960295 0.22 0.22 0.205 0.216454 0.1918 0.371 0.232 0.0567 0.2873 0.2 0.38 0.23 0.07 0.2512 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335363 NA NA 0.231628 0.098729 ID=COSN167675;OCCURENCE=1(large_intestine) 0.196 NA 4.325372 1219 4 40778146 40778146 C T exonic NSUN7 NA synonymous SNV NSUN7:NM_024677:exon7:c.C906T:p.G302G exonic ENSG00000179299 NA synonymous SNV ENSG00000179299:ENST00000316607:exon7:c.C906T:p.G302G,ENSG00000179299:ENST00000381782:exon7:c.C906T:p.G302G Score=608;Name=lod=393 NA 4p14 NA NA NA NA rs2465570 0.75 0.75 0.742 0.729034 0.7714 0.5208 0.8804 0.8744 0.5961 0.78 0.53 0.88 0.89 0.7671 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68445 NA NA 0.802977 0.867453 ID=COSM149666;OCCURENCE=1(stomach) 0.79 NA 4.3251896 1219 6 113544965 113544965 G A intergenic RFPL4B,MARCKS dist=872467;dist=633562 NA NA ncRNA_exonic ENSG00000216904 NA NA NA Score=737;Name=lod=1319 NA 6q21 NA NA NA NA rs796495 0.58 0.58 0.557 0.563099 0.675 0.6339 0.562 0.3343 0.6851 0.67 0.64 0.57 0.37 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610377 NA NA NA NA NA 0.609 NA 4.325 1219 7 55743106 55743106 A C intergenic VOPP1,FKBP9L dist=102906;dist=5661 NA NA ncRNA_exonic ENSG00000231317 NA NA NA Score=399;Name=lod=56 NA 7p11.2 NA NA NA NA rs10235329 0.74 0.74 0.743 0.746006 0.675 0.7758 0.67 0.8775 0.6646 0.69 0.77 0.67 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03041 NA NA NA NA NA 0.522 NA 4.325 1219 10 37284272 37284272 A G intergenic FZD8,ANKRD30A dist=1353910;dist=130513 NA NA ncRNA_exonic ENSG00000225355 NA NA NA Score=500;Name=lod=143 NA 10p11.21 NA NA NA NA rs10764117 0.66 0.66 0.644 0.686701 0.675 0.7946 0.6513 0.5567 0.7883 0.65 0.78 0.62 0.56 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305816 NA NA NA NA NA 0.659 NA 4.325 1219 15 81410202 81410202 C T intergenic MESDC1,C15orf26 dist=113857;dist=16442 NA NA ncRNA_exonic ENSG00000259461 NA NA NA Score=547;Name=lod=222 NA 15q25.1 NA NA NA NA rs2280440 0.47 0.47 0.492 0.42472 0.675 0.2599 0.4755 0.3911 0.3466 0.68 0.26 0.5 0.39 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140845 NA NA NA NA NA 0.391 NA 4.325 1220 11 33097986 33097986 T A ncRNA_exonic LINC00294 NA NA NA ncRNA_exonic ENSG00000213713 NA NA NA NA NA 11p13 NA NA NA NA rs2273554 0.3 0.3 0.266 0.305511 0.3419 0.4623 0.2161 0.1377 0.3967 0.35 0.42 0.26 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014031 NA NA NA NA NA 0.239 NA 4.3247666 1220 5 70840233 70840233 C T exonic BDP1 NA synonymous SNV BDP1:NM_018429:exon31:c.C6462T:p.L2154L exonic ENSG00000145734 NA synonymous SNV ENSG00000145734:ENST00000525844:exon5:c.C528T:p.L176L,ENSG00000145734:ENST00000358731:exon31:c.C6462T:p.L2154L,ENSG00000145734:ENST00000380675:exon31:c.C870T:p.L290L NA NA 5q13.2 NA NA NA NA rs182190 0.4 0.4 0.4 0.398962 0.4583 0.3591 0.3055 0.3797 0.4714 0.46 0.38 0.33 0.37 0.4266 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084906 NA NA 0.457101 0.363686 NA 0.391 NA 4.3246656 1220 17 72350277 72350277 T G intronic KIF19 NA NA NA intronic ENSG00000196169 NA NA NA NA NA 17q25.1 NA Name=SMC3_(ab9263),ATF3,YY1_(C-20),TAF7_(SQ-8),Znf143_(16618-1-AP),GABP,CTCF,Rad21,CTCF_(SC-5916),ZNF263,Pol2-4H8,JunD,TCF12,CCNT2,CTCF_(C-20) Name=48 NA rs2382642 0.53 0.53 0.542 0.527556 0.5676 0.4058 0.5245 0.621 0.4877 0.56 0.42 0.53 0.61 0.5403 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60356 NA NA 0.567571 0.631256 NA 0.616 NA 4.324529 1220 2 9628531 9628531 T C UTR3 IAH1 NM_001039613:c.*73T>C NA NA UTR3 ENSG00000134330 ENST00000482918:c.*73T>C,ENST00000497473:c.*73T>C,ENST00000470914:c.*73T>C,ENST00000492223:c.*612T>C,ENST00000351760:c.*551T>C NA NA NA NA 2p25.1 NA NA NA NA rs137926529 0.0046 0.0046 0.01 0.00279553 0.0089 NA 0.0072 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364415 NA NA NA NA NA NA NA 4.3244334 1220 6 3273214 3273214 C T UTR3 SLC22A23 NM_021945:c.*75G>A,NM_015482:c.*75G>A NA NA UTR3 ENSG00000137266 ENST00000436008:c.*75G>A,ENST00000406686:c.*75G>A,ENST00000380302:c.*75G>A,ENST00000497691:c.*1067G>A,ENST00000490273:c.*75G>A NA NA NA NA 6p25.2 NA NA NA NA rs41301845 0.0046 0.0046 0.007 0.00399361 0.0089 NA 0.0101 NA 0.0041 0.01 NA 0.01 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034709 NA NA NA NA NA 0.007 NA 4.3244334 1220 19 44612014 44612014 A T exonic ZNF224 NA synonymous SNV ZNF224:NM_013398:exon6:c.A1701T:p.P567P exonic ENSG00000267680 NA synonymous SNV ENSG00000267680:ENST00000336976:exon6:c.A1701T:p.P567P NA NA 19q13.31 NA Name=SETDB1 NA NA rs3200505 0.62 0.62 0.592 0.585463 0.8131 0.5367 0.5144 0.4085 0.6912 0.8 0.54 0.59 0.44 0.7107 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.059085 2.059085 NA 0.818637 0.456196 NA 0.674 NA 4.3242296 1220 2 10563236 10563236 G A intronic HPCAL1 NA NA NA exonic ENSG00000115756 NA nonsynonymous SNV ENSG00000115756:ENST00000419810:exon6:c.G506A:p.G169D NA NA 2p25.1 NA NA NA NA rs55737425 0.16 0.16 0.162 0.163538 0.2903 0.0417 0.1585 0.1331 0.2035 0.27 0.03 0.17 0.14 0.2556 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.643935 1.643935 0 0.296628 0.162733 NA 0.254 NA 4.3241387 1220 4 9564999 9564999 T C intergenic MIR548I2,DRD5 dist=7062;dist=218259 NA NA ncRNA_exonic ENSG00000244004 NA NA NA Score=787;Name=lod=2103 NA 4p16.1 NA NA NA NA rs9715222 0.52 0.52 0.52 0.467452 0.6759 0.496 0.5447 0.2042 0.5245 0.66 0.5 0.61 0.25 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091313 NA NA NA NA NA 0.464 NA 4.3241 1220 4 62971707 62971707 C T intergenic LPHN3,NONE dist=33539;dist=NONE NA NA ncRNA_exonic ENSG00000225405 NA NA NA Score=683;Name=lod=796 NA 4q13.1 NA NA NA NA rs4358434 0.58 0.58 0.56 0.584864 0.6759 0.4226 0.6412 0.5325 0.6892 0.68 0.47 0.65 0.52 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783453 NA 0.01 NA NA NA 0.652 NA 4.3241 1220 12 65528727 65528727 C T intergenic WIF1,LEMD3 dist=13381;dist=34624 NA NA ncRNA_exonic ENSG00000255700 NA NA NA Score=259;Name=lod=15 NA 12q14.3 NA NA NA NA rs1157239 0.6 0.6 0.59 0.553514 0.6759 0.869 0.549 0.1831 0.6063 0.67 0.86 0.58 0.19 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.378336 2.378336 NA NA NA NA 0.449 NA 4.3241 1220 10 123549691 123549691 T G exonic ATE1 NA synonymous SNV ATE1:NM_001001976:exon11:c.A1371C:p.P457P,ATE1:NM_007041:exon11:c.A1371C:p.P457P exonic ENSG00000107669 NA synonymous SNV ENSG00000107669:ENST00000369040:exon9:c.A1083C:p.P361P,ENSG00000107669:ENST00000535655:exon9:c.A474C:p.P158P,ENSG00000107669:ENST00000543447:exon10:c.A1026C:p.P342P,ENSG00000107669:ENST00000224652:exon11:c.A1371C:p.P457P,ENSG00000107669:ENST00000369043:exon11:c.A1371C:p.P457P,ENSG00000107669:ENST00000540606:exon11:c.A1350C:p.P450P NA NA 10q26.13 NA NA NA NA rs35350755 0.49 0.49 0.48 0.501597 0.4284 0.5387 0.4813 0.4879 0.5716 0.43 0.55 0.53 0.48 0.4694 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.538393 1.538393 NA 0.444767 0.479346 NA 0.391 NA 4.3240996 1220 4 39483162 39483162 G A ncRNA_exonic LOC401127 NA NA NA ncRNA_exonic ENSG00000224097 NA NA NA NA NA 4p14 NA NA NA NA rs11941935 0.33 0.33 0.287 0.33127 0.3429 0.3829 0.4164 0.0968 0.5225 0.36 0.42 0.43 0.09 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934715 NA NA NA NA NA 0.254 NA 4.3237666 1220 19 15882980 15882980 A G ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs3752143 0.12 0.12 0.095 0.156949 0.164 0.122 0.121 0.1475 0.2239 0.13 0.11 0.09 0.12 0.1792 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.998226 NA NA NA NA NA NA NA 4.3234666 1220 4 39460797 39460797 G A intronic LIAS NA NA NA intronic ENSG00000121897 NA NA NA NA NA 4p14 NA Name=PAX5-C20,ELF1_(SC-631),HEY1,HMGN3,TAF1,Sin3Ak-20,TAF7_(SQ-8),Pol2-4H8,Pol2,PU.1,Mxi1_(bHLH),YY1,NANOG_(SC-33759) NA NA rs2687959 0.2 0.2 0.178 0.197684 0.2276 0.2669 0.2622 0.0787 0.2106 0.2 0.26 0.25 0.09 0.2206 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.960505 NA NA 0.228362 0.098137 NA 0.174 NA 4.323438 1220 19 15882981 15882981 T G ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs3752142 0.12 0.12 0.095 0.161542 0.164 0.122 0.1484 0.1505 0.2239 0.13 0.11 0.09 0.12 0.1793 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.318323 NA NA NA NA NA NA NA 4.3233666 1220 6 44250165 44250165 A G exonic TCTE1 NA synonymous SNV TCTE1:NM_182539:exon4:c.T978C:p.G326G exonic ENSG00000146221 NA synonymous SNV ENSG00000146221:ENST00000371505:exon4:c.T978C:p.G326G NA NA 6p21.1 Score=844;Name=V$AHRARNT_01 NA NA NA rs516582 0.67 0.67 0.661 0.641573 0.7843 0.6012 0.8098 0.4675 0.6524 0.78 0.61 0.81 0.47 0.7508 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.001633 NA NA 0.808256 0.533364 NA 0.667 NA 4.3233106 1220 1 55833351 55833351 A G intergenic MIR4422,PPAP2B dist=141955;dist=1127068 NA NA ncRNA_exonic ENSG00000231900 NA NA NA Score=783;Name=lod=2034 NA 1p32.3 NA NA NA NA rs910270 0.71 0.71 0.706 0.726837 0.6769 0.6786 0.6499 0.8442 0.7239 0.7 0.68 0.65 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.689333 NA NA NA NA NA 0.79 NA 4.3231 1220 7 128073470 128073470 A C intergenic IMPDH1,HILPDA dist=23434;dist=22414 NA NA downstream ENSG00000228700 NA NA NA Score=659;Name=lod=633 NA 7q32.1 NA NA NA NA rs12540808 0.12 0.12 0.122 0.126597 0.1769 0.121 0.1009 0.0416 0.2137 0.18 0.13 0.09 0.04 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138864 NA NA NA NA NA 0.08 NA 4.3231 1220 14 106963326 106963326 G A intergenic LINC00221,NONE dist=11797;dist=NONE NA NA exonic ENSG00000211961 NA nonsynonymous SNV ENSG00000211961:ENST00000390621:exon1:c.C41T:p.A14V NA NA 14q32.33 NA NA NA NA rs12884037 0.11 0.11 0.116 0.0948482 0.1849 NA 0.0865 0.1354 0.0511 0.19 0.0017 0.08 0.15 0.1484 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530344 NA 0.03 0.177043 0.126394 ID=COSN229339;OCCURENCE=1(skin) 0.116 NA 4.3229904 1220 16 15730245 15730245 G A intronic KIAA0430 NA NA NA intronic ENSG00000166783 NA NA NA NA NA 16p13.11 NA NA Name=21 NA rs4781677 0.12 0.12 0.111 0.0984425 0.2475 NA 0.1354 0.0492 0.0869 0.25 NA 0.15 0.05 0.1924 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.438114 NA NA 0.237267 0.073793 NA 0.109 NA 4.322833 1220 8 21824547 21824547 A G intronic XPO7 NA NA NA intronic ENSG00000130227 NA NA NA NA NA 8p21.3 NA Name=PU.1,HDAC2_(SC-6296) Name=36 NA rs4872191 0.57 0.57 0.576 0.561302 0.5984 0.4861 0.3775 0.764 0.4571 0.6 0.48 0.42 0.75 0.5274 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254479 NA NA 0.55167 0.735442 NA 0.768 NA 4.32253 1220 19 8386998 8386998 T C intronic RPS28 NA NA NA intronic ENSG00000233927 NA NA NA NA NA 19p13.2 NA NA Name=14 NA rs4147644 0.29 0.29 0.264 0.267173 0.2266 0.2867 0.317 0.3638 0.1227 0.22 0.29 0.31 0.37 0.2442 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303151 NA NA 0.20688 0.31608 NA 0.362 NA 4.32232 1220 5 177613168 177613168 C T ncRNA_exonic GMCL1P1 NA NA NA ncRNA_exonic ENSG00000244234 NA NA NA Score=410;Name=lod=62 NA 5q35.3 NA NA NA NA rs13184406 0.52 0.52 0.459 0.491813 0.7197 0.4871 0.5476 0.1899 0.6309 0.71 0.51 0.57 0.2 0.6247 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729654 NA NA NA NA NA 0.464 NA 4.3222666 1220 6 4979355 4979355 G A intergenic CDYL,RPP40 dist=23577;dist=15925 NA NA ncRNA_exonic ENSG00000217030 NA NA NA Score=580;Name=lod=303 NA 6p25.1 NA NA NA NA rs2793224 0.76 0.76 0.77 0.757788 0.6779 0.9802 0.7104 0.6815 0.7474 0.68 0.99 0.71 0.67 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374551 NA NA NA NA NA 0.775 NA 4.3221 1220 10 3161131 3161131 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA Name=Pol2 NA NA rs3829914 0.7 0.7 0.701 0.687899 0.6779 0.8413 0.6412 0.5764 0.7239 0.68 0.85 0.64 0.59 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902751 NA NA NA NA NA 0.667 NA 4.3221 1220 1 207131853 207131853 T G UTR3 FCAMR NM_001170631:c.*8A>C,NM_032029:c.*142A>C,NM_001122979:c.*142A>C NA NA UTR3 ENSG00000162897 ENST00000324863:c.*1815A>C,ENST00000400962:c.*142A>C,ENST00000324852:c.*8A>C,ENST00000450945:c.*142A>C NA NA NA NA 1q32.1 NA NA NA NA rs184963036 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0047 0.0047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436793 NA NA 0.004714 0.004335 NA NA NA 4.3219194 1220 3 116746298 116746298 G C intergenic LSAMP-AS3,IGSF11 dist=310411;dist=1873181 NA NA intronic ENSG00000185565 NA NA NA Score=694;Name=lod=882 NA 3q13.31 NA NA NA NA rs17662604 0.2 0.2 0.181 0.174521 0.3449 0.005 0.2248 0.1619 0.1554 0.35 0.0035 0.25 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376239 NA NA NA NA NA 0.174 NA 4.3217667 1220 5 177612983 177612983 G A ncRNA_exonic GMCL1P1 NA NA NA ncRNA_exonic ENSG00000244234 NA NA NA Score=389;Name=lod=51 NA 5q35.3 NA NA NA NA rs13169133 0.51 0.51 0.459 0.485024 0.7207 0.4871 0.5461 0.1664 0.6278 0.71 0.51 0.57 0.18 0.6242 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018569 NA NA NA NA NA 0.449 NA 4.3217666 1220 22 35799345 35799345 C A intronic MCM5 NA NA NA ncRNA_intronic ENSG00000240293 NA NA NA NA NA 22q12.3 NA NA NA NA rs713688 0.0014 0.0014 0.002 0.00139776 0.004 NA NA 0.0015 0.001 0.0026 NA NA 0.002 0.0028 0.0049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667434 NA NA 0.004884 0 NA NA NA 4.3216493 1220 17 3775916 3775916 T C exonic CAMKK1 NA synonymous SNV CAMKK1:NM_032294:exon12:c.A1056G:p.P352P,CAMKK1:NM_172206:exon12:c.A1056G:p.P352P,CAMKK1:NM_172207:exon13:c.A1170G:p.P390P exonic ENSG00000004660 NA synonymous SNV ENSG00000004660:ENST00000348335:exon12:c.A1056G:p.P352P,ENSG00000004660:ENST00000381769:exon12:c.A1137G:p.P379P,ENSG00000004660:ENST00000158166:exon13:c.A1170G:p.P390P,ENSG00000004660:ENST00000381771:exon13:c.A1170G:p.P390P Score=446;Name=lod=87 NA 17p13.2 NA NA NA NA rs7214864 0.61 0.61 0.579 0.629193 0.8012 0.4097 0.7478 0.4614 0.8211 0.8 0.39 0.77 0.45 0.7433 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876647 NA NA 0.800581 0.521788 NA 0.565 NA 4.3215856 1220 7 20883459 20883459 G C intergenic RPL23P8,SP4 dist=16020;dist=584230 NA NA ncRNA_exonic ENSG00000234839 NA NA NA Score=696;Name=lod=902 NA 7p21.1 NA NA NA NA rs758090 0.66 0.66 0.649 0.677117 0.6789 0.5833 0.6427 0.7436 0.7065 0.68 0.56 0.64 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609106 NA NA NA NA NA 0.688 NA 4.3211 1220 7 56142519 56142519 A G intronic SUMF2 NA NA NA intronic ENSG00000129103 NA NA NA NA NA 7p11.2 NA Name=HA-E2F1 NA NA rs4948104 0.67 0.67 0.643 0.641773 0.6789 0.7103 0.6628 0.5961 0.5798 0.69 0.71 0.65 0.62 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654973 NA NA NA NA NA 0.674 NA 4.3211 1220 10 124328321 124328321 T G intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA Score=272;Name=lod=17 NA 10q26.13 NA NA NA NA rs3019529 0.68 0.68 0.659 0.688898 0.6789 0.7728 0.7767 0.5582 0.727 0.69 0.77 0.76 0.52 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.701059 1.701059 NA NA NA NA 0.732 NA 4.3211 1220 11 50129760 50129760 T C intergenic OR4C12,LOC441601 dist=125689;dist=109239 NA NA ncRNA_exonic ENSG00000255442 NA NA NA Score=454;Name=lod=93 NA 11p11.12 NA NA NA NA rs4881697 0.68 0.68 0.637 0.698283 0.6789 0.7837 0.7824 0.5439 0.7791 0.67 0.8 0.77 0.5 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359123 NA NA NA NA NA 0.616 NA 4.3211 1220 17 78950462 78950462 C T intergenic RPTOR,CHMP6 dist=10289;dist=15179 NA NA ncRNA_exonic ENSG00000240270 NA NA NA Score=708;Name=lod=1006 NA 17q25.3 NA NA NA NA rs2138121 0.72 0.72 0.732 0.750998 0.6789 0.7272 0.7075 0.8714 0.7178 0.65 0.72 0.66 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.886317 NA NA NA NA NA 0.826 NA 4.3211 1220 14 68045935 68045935 G A exonic PLEKHH1 NA synonymous SNV PLEKHH1:NM_020715:exon21:c.G2934A:p.S978S exonic ENSG00000054690 NA synonymous SNV ENSG00000054690:ENST00000329153:exon21:c.G2934A:p.S978S NA NA 14q24.1 Score=953;Name=V$GATA1_01 NA NA NA rs6573781 0.68 0.68 0.657 0.646965 0.7982 0.503 0.7579 0.5862 0.6431 0.8 0.53 0.76 0.59 0.7531 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21815 NA NA 0.794613 0.654339 NA 0.739 NA 4.3207536 1220 9 99674180 99674180 T C intergenic LOC441454,NUTMG dist=1443;dist=17106 NA NA intergenic ENSG00000269907,ENSG00000227257 dist=1493;dist=7030 NA NA Score=414;Name=lod=64 NA 9q22.33 NA NA NA NA rs148066694 0.07 0.07 0.064 0.053115 0.0129 0.1925 0.0159 0.0068 0.0399 0.02 0.23 0.02 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071163 NA NA NA NA NA NA NA 4.3204334 1220 21 47679168 47679168 G C intronic MCM3AP NA NA NA ncRNA_exonic ENSG00000215424 NA NA NA NA NA 21q22.3 NA NA NA NA rs17182962 0.1 0.1 0.098 0.134585 0.0129 0.004 0.0562 0.4062 0.0828 0.01 0.0035 0.06 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.069085 NA NA NA NA NA 0.116 NA 4.3204333 1220 1 151732504 151732504 C T UTR3 MRPL9 NM_031420:c.*22G>A NA NA UTR3 ENSG00000143436 ENST00000368830:c.*22G>A,ENST00000368829:c.*22G>A NA NA NA NA 1q21.3 NA NA NA NA rs148153971 0.0018 0.0018 0.003 0.00139776 0.003 NA 0.0043 NA 0.001 0.004 NA 0.0028 NA 0.0037 0.0064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298883 NA NA 0.006395 0.001589 NA NA NA 4.3202384 1220 11 117858983 117858983 G A intronic IL10RA NA NA NA intronic ENSG00000110324 NA NA NA NA NA 11q23.3 NA Name=EBF NA NA rs4252248 0.78 0.78 0.778 0.771565 0.6799 0.9931 0.7968 0.6815 0.7413 0.68 0.99 0.75 0.72 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033418 NA NA NA NA NA 0.746 NA 4.3201 1220 22 34986400 34986400 G T intergenic LARGE,ISX dist=669984;dist=475730 NA NA ncRNA_exonic ENSG00000235485 NA NA NA Score=736;Name=lod=1307 NA 22q12.3 NA NA NA NA rs874814 0.58 0.58 0.56 0.566494 0.6799 0.619 0.6686 0.2844 0.7045 0.68 0.64 0.68 0.28 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130983 NA NA NA NA NA 0.522 NA 4.3201 1220 13 50465821 50465821 G A ncRNA_exonic CTAGE10P NA NA NA ncRNA_exonic ENSG00000181358 NA NA NA NA NA 13q14.2 NA NA NA NA rs7331776 0.15 0.15 0.124 0.136781 0.1879 0.001 0.2046 0.1914 0.1022 0.19 0.0017 0.22 0.21 0.1588 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575068 NA NA NA NA NA 0.094 NA 4.3199666 1220 17 25758419 25758419 A C ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA NA NA 17q11.1 NA NA NA NA rs4795662 0.32 0.32 0.319 0.321486 0.3469 0.3155 0.4078 0.2171 0.3814 0.34 0.32 0.42 0.23 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753429 NA NA NA NA NA 0.254 NA 4.3197666 1220 19 41448205 41448205 A G ncRNA_intronic CYP2B7P1 NA NA NA ncRNA_intronic ENSG00000256612 NA NA NA NA NA 19q13.2 NA NA NA NA rs8110485 0.26 0.26 0.262 0.221246 0.3469 0.2341 0.1844 0.1581 0.1902 0.35 0.27 0.2 0.17 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.477218 1.477218 NA NA NA NA 0.268 NA 4.3197666 1220 14 70926395 70926395 T A UTR3 ADAM21 NM_003813:c.*10T>A NA NA ncRNA_UTR3 ENSG00000139985 NA NA NA NA NA 14q24.2 NA NA NA NA rs45573638 0.03 0.03 0.022 0.0225639 0.0626 NA 0.0259 0.0023 0.0297 0.07 NA 0.03 0.01 0.0461 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250503 1.250503 NA 0.071645 0.011834 NA 0.022 NA 4.319655 1220 8 146115367 146115367 A G exonic ZNF250 NA synonymous SNV ZNF250:NM_001109689:exon3:c.T120C:p.G40G,ZNF250:NM_021061:exon3:c.T135C:p.G45G exonic ENSG00000196150 NA synonymous SNV ENSG00000196150:ENST00000292579:exon3:c.T135C:p.G45G,ENSG00000196150:ENST00000342660:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000417550:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000527049:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000528258:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000529780:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000533221:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000533543:exon3:c.T135C:p.G45G,ENSG00000196150:ENST00000533622:exon3:c.T120C:p.G40G,ENSG00000196150:ENST00000543949:exon3:c.T135C:p.G45G,ENSG00000196150:ENST00000525694:exon4:c.T120C:p.G40G Score=493;Name=lod=134 NA 8q24.3 NA NA NA NA rs2735906 0.88 0.88 0.88 0.910942 0.7614 1 0.8746 0.9735 0.9141 0.76 1 0.85 0.97 0.8335 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.458033 1.458033 NA 0.752209 0.938266 NA 0.725 NA 4.3195576 1220 2 132113292 132113292 G A intergenic LOC440910,WTH3DI dist=55900;dist=4773 NA NA intergenic ENSG00000115762,ENSG00000233087 dist=2010;dist=4774 NA NA Score=627;Name=lod=472 NA 2q21.1 NA NA NA NA rs111679476 0.01 0.01 0.012 0.00459265 0.0139 NA 0.0058 0.0015 0.0031 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224021 NA NA NA NA NA NA NA 4.3194334 1220 7 4308181 4308181 G A UTR3 SDK1 NM_152744:c.*3165G>A NA NA UTR3 ENSG00000146555 ENST00000404826:c.*3165G>A NA NA NA NA 7p22.2 NA NA NA NA rs117603586 0.01 0.01 0.007 0.0363419 0.0139 0.001 0.0331 0.0015 0.1452 0.01 NA 0.03 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214968 NA NA NA NA NA 0.022 NA 4.3194334 1220 14 70924072 70924072 A G UTR5 ADAM21 NM_003813:c.-145A>G NA NA ncRNA_UTR5 ENSG00000139985 NA NA NA NA NA 14q24.2 NA NA NA NA rs4143920 0.3 0.3 0.302 0.30631 0.1809 0.5268 0.17 0.4017 0.1759 0.18 0.51 0.17 0.35 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041014 NA NA NA NA ID=COSN164725;OCCURENCE=1(breast) 0.196 NA 4.3191 1220 18 22597099 22597099 G A intergenic LOC729950,ZNF521 dist=354937;dist=44789 NA NA ncRNA_exonic ENSG00000229248 NA NA NA Score=522;Name=lod=177 NA 18q11.2 NA NA NA NA rs2155853 0.65 0.65 0.647 0.65635 0.6809 0.5962 0.7089 0.6831 0.6196 0.67 0.56 0.75 0.65 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897067 NA NA NA NA NA 0.71 NA 4.3191 1220 2 905889 905889 C G intergenic LOC339822,SNTG2 dist=41777;dist=40665 NA NA downstream ENSG00000234796 NA NA NA NA NA 2p25.3 NA Name=PU.1,GABP NA NA rs62103945 0.32 0.32 0.147 NA NA NA NA NA NA 0.38 0.24 0.36 0.27 0.1811 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625696 NA NA NA NA NA NA NA 4.3189 1220 10 124402677 124402677 A G exonic DMBT1 NA synonymous SNV DMBT1:NM_004406:exon40:c.A5121G:p.P1707P,DMBT1:NM_017579:exon52:c.A6975G:p.P2325P,DMBT1:NM_007329:exon53:c.A7005G:p.P2335P exonic ENSG00000187908 NA synonymous SNV ENSG00000187908:ENST00000359586:exon25:c.A3165G:p.P1055P,ENSG00000187908:ENST00000330163:exon40:c.A5121G:p.P1707P,ENSG00000187908:ENST00000368956:exon40:c.A5121G:p.P1707P,ENSG00000187908:ENST00000344338:exon52:c.A6975G:p.P2325P,ENSG00000187908:ENST00000368955:exon52:c.A6975G:p.P2325P,ENSG00000187908:ENST00000338354:exon53:c.A7005G:p.P2335P,ENSG00000187908:ENST00000368909:exon53:c.A7005G:p.P2335P NA NA 10q26.13 NA NA NA NA rs1052715 0.59 0.59 0.597 0.64377 0.4125 0.6687 0.5029 0.8767 0.6411 0.41 0.66 0.52 0.86 0.5171 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23479 NA NA 0.418167 0.814797 NA 0.717 NA 4.3188996 1220 21 14414959 14414959 C T ncRNA_intronic ANKRD30BP2 NA NA NA ncRNA_intronic ENSG00000224309 NA NA NA NA NA 21q11.2 NA NA NA NA rs8132212 NA NA 0.213 0.364217 0.3479 0.3512 0.3674 0.3533 0.407 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.227406 NA NA NA NA NA NA NA 4.3187666 1220 19 6981763 6981763 G A ncRNA_exonic EMR4P NA NA NA ncRNA_exonic ENSG00000268758 NA NA NA NA NA 19p13.2 NA NA NA NA rs2035970 0.15 0.15 0.127 0.154153 0.0885 0.2411 0.1484 0.0756 0.2423 0.1 0.27 0.14 0.08 0.1425 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994001 NA 0.05 0.117119 0.078247 NA 0.072 NA 4.3185476 1220 3 49866401 49866401 C T UTR3 TRAIP NM_005879:c.*135G>A NA NA UTR3 ENSG00000183763 ENST00000331456:c.*135G>A NA NA NA NA 3p21.31 NA NA NA NA rs139394417 0.01 0.01 0.005 0.00439297 0.0149 NA 0.0014 0.0008 0.0051 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15788 NA NA NA NA NA NA NA 4.3184334 1220 14 23465542 23465542 T A intronic C14orf93 NA NA NA ncRNA_intronic ENSG00000258457 NA NA NA NA NA 14q11.2 NA NA NA NA rs139766694 0.01 0.01 0.004 0.00399361 0.0149 NA 0.0043 NA 0.002 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75528 NA NA NA NA NA NA NA 4.3184333 1220 17 33428167 33428167 G A ncRNA_intronic RAD51L3-RFFL NA NA NA intronic ENSG00000185379,ENSG00000267618 NA NA NA NA NA 17q12 NA NA NA NA rs45496096 0.01 0.01 0.003 0.00419329 0.0149 NA 0.0072 NA 0.001 0.02 NA 0.0028 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663836 NA NA NA NA NA 0.007 NA 4.3184333 1220 11 89402557 89402557 G T intronic FOLH1B NA NA NA ncRNA_intronic ENSG00000134612 NA NA NA Score=243;Name=lod=13 NA 11q14.3 NA NA NA NA rs11018717 0.19 0.19 0.156 0.219848 0.3748 0.1379 0.2478 0.1293 0.2474 0.29 0.11 0.25 0.09 0.3051 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551558 NA NA 0.335427 0.152204 NA 0.232 NA 4.3180063 1220 1 39991475 39991475 G A ncRNA_UTR3 BMP8A NA NA NA ncRNA_UTR3 ENSG00000183682 NA NA NA NA NA 1p34.3 NA NA NA NA rs2230006 0.09 0.09 NA 0.0916534 0.2117 0.0218 0.072 0.0749 0.0767 0.17 0.01 0.09 0.07 0.137 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597237 NA NA NA NA NA NA NA 4.3179666 1220 7 158512522 158512522 A G intergenic NCAPG2,ESYT2 dist=15002;dist=11167 NA NA ncRNA_exonic ENSG00000228030 NA NA NA Score=265;Name=lod=16 NA 7q36.3 NA NA NA NA rs12698276 0.62 0.62 0.617 0.588858 0.6829 0.5308 0.5821 0.5635 0.591 0.69 0.57 0.59 0.57 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.317241 2.317241 NA NA NA NA 0.667 NA 4.3171 1220 8 17419299 17419299 A G intronic SLC7A2 NA NA NA intronic ENSG00000003989 NA NA NA NA NA 8p22 NA Name=Pol2 NA NA rs2705062 0.64 0.64 0.641 0.609425 0.6829 0.6706 0.5749 0.6195 0.4816 0.68 0.67 0.58 0.58 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224641 NA NA NA NA NA 0.63 NA 4.3171 1220 12 6839453 6839453 G A intronic COPS7A NA NA NA intronic ENSG00000111652 NA NA NA NA NA 12p13.31 NA Name=CTCF NA NA rs871365 0.67 0.67 0.659 0.703075 0.6829 0.749 0.6167 0.6127 0.8599 0.67 0.75 0.65 0.58 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072081 NA NA NA NA NA 0.536 NA 4.3171 1220 6 28121860 28121860 C T UTR3 ZKSCAN8 NM_006298:c.*65C>T NA NA UTR3 ENSG00000198315 ENST00000606198:c.*1339C>T,ENST00000330236:c.*65C>T NA NA NA NA 6p22.1 NA NA NA NA rs72846784 0.01 0.01 0.006 0.0061901 0.0179 NA 0.0115 NA 0.0051 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.231099 NA NA NA NA NA 0.058 NA 4.3154334 1220 19 55014018 55014018 A G UTR5 LAIR2 NM_002288:c.-117A>G,NM_021270:c.-117A>G NA NA UTR5 ENSG00000167618 ENST00000301202:c.-117A>G NA NA NA NA 19q13.42 NA NA NA NA rs2287829 0.03 0.03 0.019 0.0279553 0.0179 0.0466 0.0504 0.0023 0.0378 0.02 0.04 0.05 NA NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855574 NA NA NA NA NA 0.007 NA 4.3154334 1220 1 157566211 157566211 A G intronic FCRL4 NA NA NA intronic ENSG00000163518 NA NA NA NA NA 1q23.1 NA Name=NFKB NA NA rs12744410 0.3 0.3 0.278 0.291534 0.3539 0.2202 0.3127 0.2852 0.2945 0.34 0.2 0.35 0.3 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120587 NA NA 0.330924 0.310694 NA 0.29 NA 4.315176 1220 1 160854445 160854445 T C intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA NA 1q23.3 NA Name=ELF1_(SC-631),CTCF NA NA rs2039415 0.68 0.68 0.668 0.667931 0.6849 0.7371 0.7262 0.5431 0.7065 0.68 0.75 0.71 0.58 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164597 NA NA NA NA NA 0.667 NA 4.3151 1221 2 132349648 132349648 T G ncRNA_intronic RNU6-81P NA NA NA ncRNA_exonic ENSG00000204434 NA NA NA NA NA 2q21.1 NA NA NA NA rs13029900 0.24 0.24 0.216 0.217252 0.3519 0.1548 0.2061 0.1324 0.2658 0.35 0.18 0.26 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569048 NA NA NA NA NA 0.116 NA 4.3147666 1221 19 326481 326481 G A intronic MIER2 NA NA NA intronic ENSG00000105556 NA NA NA Score=259;Name=lod=15 NA 19p13.3 NA NA NA NA rs4897949 0.25 0.25 0.228 0.285144 0.2048 0.4454 0.2767 0.1271 0.4223 0.2 0.41 0.25 0.14 0.2555 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669779 NA NA 0.225116 0.133227 NA 0.254 NA 4.314584 1221 15 90128910 90128910 T C intronic TICRR NA NA NA ncRNA_intronic ENSG00000259713 NA NA NA NA NA 15q26.1 Score=876;Name=V$FOXJ2_02 NA NA NA rs893723 0.26 0.26 0.254 0.272364 0.332 0.3948 0.2853 0.0567 0.3671 0.34 0.35 0.24 0.07 0.353 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044925 NA NA 0.333861 0.085314 NA 0.261 NA 4.3144723 1221 19 45152923 45152923 C G intronic PVR NA NA NA ncRNA_intronic ENSG00000266903 NA NA NA NA NA 19q13.31 NA NA NA NA rs113526265 0.05 0.05 0.045 0.0557109 0.0189 NA 0.0245 0.1581 0.0348 0.02 NA 0.03 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391408 NA NA NA NA NA 0.058 NA 4.3144333 1221 3 37535984 37535984 C G intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA Score=564;Name=lod=261 NA 3p22.2 NA NA Name=12 NA rs2507940 0.59 0.59 0.547 0.532748 0.5358 0.7917 0.6758 0.3722 0.3783 0.53 0.81 0.7 0.35 0.5725 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.552787 2.552787 NA 0.577442 0.409215 NA 0.551 NA 4.314258 1221 3 88999950 88999950 T G intergenic C3orf38,EPHA3 dist=792835;dist=156724 NA NA ncRNA_exonic ENSG00000242705 NA NA NA NA NA 3p11.1 NA NA Name=3 NA rs7640057 0.66 0.66 0.638 0.65016 0.6859 0.6349 0.5072 0.7307 0.6217 0.68 0.63 0.57 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532894 NA NA NA NA NA 0.797 NA 4.3141 1221 5 68150939 68150939 A G intergenic PIK3R1,SLC30A5 dist=553290;dist=238837 NA NA ncRNA_intronic ENSG00000249335 NA NA NA Score=582;Name=lod=309 NA 5q13.1 NA NA NA NA rs10471758 0.55 0.55 0.515 0.522165 0.6859 0.5407 0.6527 0.2481 0.6125 0.68 0.59 0.63 0.23 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810553 NA NA NA NA NA 0.529 NA 4.3141 1221 14 20841162 20841162 C T intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA Name=2 NA rs1760909 0.31 0.31 0.328 0.320288 0.2227 0.3046 0.3674 0.447 0.2321 0.23 0.29 0.32 0.45 0.2573 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922167 NA NA 0.206047 0.389469 NA 0.225 NA 4.313953 1221 5 77081834 77081834 C T intergenic TBCA,AP3B1 dist=9649;dist=216316 NA NA intronic ENSG00000171530 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs151700 0.17 0.17 0.137 0.156949 0.3529 0.0437 0.2363 0.0356 0.18 0.35 0.04 0.22 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.850971 1.850971 NA NA NA NA 0.138 NA 4.3137667 1221 16 78133671 78133671 C T UTR5 WWOX NM_130791:c.-5C>T,NM_016373:c.-5C>T,NM_130844:c.-5C>T NA NA UTR5 ENSG00000186153 ENST00000566780:c.-5C>T,ENST00000569332:c.-5C>T,ENST00000539474:c.-5C>T,ENST00000406884:c.-5C>T,ENST00000402655:c.-5C>T,ENST00000566662:c.-5C>T,ENST00000569818:c.-5C>T,ENST00000355860:c.-5C>T,ENST00000408984:c.-5C>T NA NA NA NA 16q23.1 NA Name=CHD2_(N-1250),ETS1,GATA-1,TAF1,ZBTB33,HMGN3,Pol2,ZEB1_(SC-25388),HEY1,Nrf1,Pol2-4H8 NA NA rs11545028 0.24 0.24 0.207 0.215655 0.3181 0.2044 0.2435 0.118 0.2342 0.33 0.21 0.28 0.12 0.372 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.885415 1.885415 NA 0.329508 0.171642 NA 0.167 NA 4.3137254 1221 12 58090051 58090051 T C intronic OS9 NA NA NA ncRNA_intronic ENSG00000257342 NA NA NA NA NA 12q13.3 NA NA NA NA rs114532828 0.01 0.01 0.006 0.0163738 0.004 0.006 0.0058 0.0469 0.0061 0.01 0.01 0.01 0.03 0.0095 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637819 1.637819 NA 0.006279 0.044712 NA 0.007 NA 4.3135543 1221 2 234449316 234449316 G A exonic USP40 NA synonymous SNV USP40:NM_018218:exon9:c.C1195T:p.L399L exonic ENSG00000085982 NA synonymous SNV ENSG00000085982:ENST00000427112:exon9:c.C1159T:p.L387L,ENSG00000085982:ENST00000450966:exon9:c.C1195T:p.L399L,ENSG00000085982:ENST00000251722:exon10:c.C1159T:p.L387L Score=520;Name=lod=173 NA 2q37.1 NA NA NA NA rs2167884 0.81 0.81 0.812 0.819888 0.7565 0.8542 0.866 0.7716 0.8824 0.77 0.88 0.87 0.75 0.8091 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982927 NA NA 0.787728 0.782353 NA 0.841 NA 4.3133386 1221 16 12162969 12162969 A G exonic SNX29 NA synonymous SNV SNX29:NM_032167:exon10:c.A1299G:p.P433P exonic ENSG00000048471 NA synonymous SNV ENSG00000048471:ENST00000306030:exon3:c.A144G:p.P48P,ENSG00000048471:ENST00000323433:exon3:c.A144G:p.P48P,ENSG00000048471:ENST00000566228:exon10:c.A1299G:p.P433P NA NA 16p13.13 NA NA NA NA rs1641843 0.56 0.56 0.565 0.609026 0.4632 0.5258 0.5014 0.8116 0.6472 0.44 0.57 0.49 0.8 0.4809 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531869 NA NA 0.409268 0.740235 ID=COSM148024;OCCURENCE=1(stomach) 0.543 NA 4.3132986 1221 5 94206202 94206202 C T intronic MCTP1 NA NA NA intronic ENSG00000175471 NA NA NA Score=668;Name=lod=693 NA 5q15 NA NA NA NA rs159032 0.15 0.15 0.14 0.142173 0.2515 0.1161 0.2075 0.0212 0.1738 0.23 0.13 0.22 0.01 0.199 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369263 NA NA 0.236218 0.05495 ID=COSM149888;OCCURENCE=1(stomach) 0.109 NA 4.313282 1221 3 75591279 75591279 C T intergenic FAM86DP,MIR1324 dist=107013;dist=88635 NA NA downstream ENSG00000244674 NA NA NA Score=793;Name=lod=2224 NA 3p12.3 NA NA NA NA rs62260259 0.1 0.1 0.066 0.122005 0.1869 0.0367 0.196 0.0651 0.1677 0.16 0.03 0.15 0.07 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771799 NA NA NA NA NA NA NA 4.3131 1221 4 74349867 74349867 A G intronic AFM NA NA NA intronic ENSG00000079557 NA NA NA NA NA 4q13.3 NA Name=SRF NA NA rs11939341 0.59 0.59 0.568 0.554513 0.6869 0.6369 0.4928 0.3926 0.5961 0.69 0.63 0.55 0.42 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307947 NA NA NA NA NA 0.493 NA 4.3131 1221 10 43232450 43232450 G A intergenic ZNF33B,BMS1 dist=98458;dist=45504 NA NA ncRNA_intronic ENSG00000230425 NA NA NA Score=620;Name=lod=442 NA 10q11.21 NA NA NA NA rs702370 0.6 0.6 0.606 0.595647 0.6869 0.5198 0.634 0.562 0.5982 0.66 0.54 0.64 0.54 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.834945 NA NA NA NA NA 0.725 NA 4.3131 1221 7 129125721 129125721 T C UTR3 STRIP2 NM_020704:c.*51T>C NA NA UTR3 ENSG00000128578 ENST00000249344:c.*51T>C NA NA NA NA 7q32.1 NA NA NA NA rs150728758 0.0041 0.0041 0.005 0.00359425 0.007 NA 0.0058 NA 0.0072 0.01 NA 0.01 NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.117857 5.117857 NA 0.007676 0.000454 NA NA NA 4.3127574 1221 17 78444658 78444658 T G exonic NPTX1 NA synonymous SNV NPTX1:NM_002522:exon5:c.A1254C:p.G418G exonic ENSG00000171246 NA synonymous SNV ENSG00000171246:ENST00000306773:exon5:c.A1254C:p.G418G NA NA 17q25.3 Score=726;Name=V$SEF1_C NA NA NA rs12943620 0.83 0.83 0.821 0.837061 0.7694 0.7629 0.83 0.9758 0.8006 0.78 0.78 0.83 0.96 0.8028 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.990575 NA NA 0.78186 0.94167 ID=COSM1130122;OCCURENCE=1(prostate) 0.855 NA 4.3126066 1221 12 113388439 113388439 G A intronic OAS3 NA NA NA ncRNA_intronic ENSG00000257452 NA NA NA NA NA 12q24.13 NA NA NA NA rs140201795 0.01 0.01 0.008 0.0107827 0.0209 0.001 0.0058 0.0008 0.0276 0.02 0.0017 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582123 NA NA NA NA NA NA NA 4.3124333 1221 11 27401743 27401743 A T intronic LGR4 NA NA NA intronic ENSG00000205213 NA NA NA NA NA 11p14.1 NA Name=PU.1 NA NA rs2472623 0.58 0.58 0.573 0.569089 0.6879 0.499 0.5086 0.559 0.5757 0.68 0.47 0.51 0.61 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290445 NA NA NA NA NA 0.645 NA 4.3121 1221 17 1985050 1985050 T C intronic SMG6 NA NA NA intronic ENSG00000070366 NA NA NA NA NA 17p13.3 NA NA Name=62 NA rs8076897 0.78 0.78 0.766 0.765974 0.6879 0.9296 0.8415 0.7262 0.6779 0.68 0.92 0.82 0.73 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001989 NA NA NA NA NA 0.761 NA 4.3121 1221 1 91980447 91980447 A G exonic CDC7 NA synonymous SNV CDC7:NM_001134419:exon9:c.A990G:p.T330T,CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T exonic ENSG00000097046 NA synonymous SNV ENSG00000097046:ENST00000430031:exon8:c.A906G:p.T302T,ENSG00000097046:ENST00000234626:exon9:c.A990G:p.T330T,ENSG00000097046:ENST00000428239:exon9:c.A990G:p.T330T Score=366;Name=lod=41 NA 1p22.2 NA NA NA NA rs483532 0.78 0.78 0.782 0.76897 0.7942 0.7579 0.7824 0.7837 0.7249 0.79 0.77 0.8 0.77 0.7773 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.941881 NA NA 0.78314 0.771448 NA 0.87 NA 4.3120266 1221 5 176940384 176940384 G A exonic DDX41 NA synonymous SNV DDX41:NM_016222:exon11:c.C1200T:p.R400R exonic ENSG00000183258 NA synonymous SNV ENSG00000183258:ENST00000330503:exon10:c.C1254T:p.R418R,ENSG00000183258:ENST00000507955:exon11:c.C1200T:p.R400R NA NA 5q35.3 NA NA NA NA rs335438 0.37 0.37 0.405 0.386382 0.4712 0.2063 0.3199 0.4539 0.4407 0.48 0.17 0.35 0.47 0.4198 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596568 NA NA 0.463837 0.455061 NA 0.5 NA 4.3118296 1221 2 130893997 130893997 A G ncRNA_intronic CCDC74B-AS1 NA NA NA ncRNA_intronic ENSG00000223760 NA NA NA NA NA 2q21.1 NA NA NA NA rs4474835 0.4 0.4 0.345 0.398363 0.3549 0.4435 0.4452 0.3449 0.4356 0.36 0.47 0.41 0.36 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553013 NA NA NA NA NA 0.514 NA 4.3117666 1221 8 125711882 125711882 C T intronic MTSS1 NA NA NA intronic ENSG00000170873 NA NA NA NA NA 8q24.13 NA NA Name=51 NA rs72714775 0.2 0.2 0.174 0.209665 0.2197 0.1845 0.2781 0.149 0.2587 0.22 0.19 0.23 0.16 0.2398 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53979 NA NA 0.228837 0.15842 NA 0.203 NA 4.311663 1221 10 73992939 73992939 C T UTR3 ANAPC16 NM_001242548:c.*65C>T,NM_001242547:c.*65C>T,NM_001242546:c.*65C>T,NM_173473:c.*65C>T NA NA UTR3 ENSG00000166295 ENST00000299381:c.*65C>T NA NA NA NA 10q22.1 NA NA NA NA rs117571297 0.01 0.01 0.009 0.00758786 0.0219 NA 0.0086 0.0008 0.0092 0.02 NA 0.01 NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712866 NA NA NA NA NA 0.022 NA 4.3114334 1221 1 39720180 39720180 C A intronic MACF1 NA NA NA ncRNA_intronic ENSG00000226438 NA NA NA NA NA 1p34.3 NA NA NA NA rs75830873 0.05 0.05 0.044 0.0455272 0.0219 0.1468 0.0202 0.0045 0.0389 0.02 0.13 0.02 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.912124 2.912124 NA NA NA NA 0.014 NA 4.3114333 1221 20 55913500 55913500 C T ncRNA_intronic MIR5095 NA NA NA intronic ENSG00000054796 NA NA NA NA NA 20q13.31 NA NA NA NA rs75714022 0.03 0.03 0.023 0.0327476 0.0219 0.001 0.0144 0.0847 0.0194 0.02 NA 0.02 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.038324 NA NA NA NA NA 0.087 NA 4.3114333 1221 11 118886656 118886656 G A intronic RPS25 NA NA NA intronic ENSG00000118181 NA NA NA NA NA 11q23.3 NA Name=Pol2-4H8 NA NA rs7131534 0.23 0.23 0.24 0.282548 0.2296 0.0704 0.2406 0.4622 0.3425 0.22 0.05 0.25 0.45 0.2334 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164465 NA NA 0.22596 0.425682 NA 0.326 NA 4.31104 1221 6 31323020 31323020 T C intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 NA NA rs2276448 0.29 0.29 0.258 0.315495 0.2366 0.2649 0.2939 0.4017 0.3476 0.23 0.3 0.31 0.36 0.259 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.43511 1.43511 NA 0.193429 0.31767 NA 0.246 NA 4.310971 1221 3 136739340 136739340 T A intergenic IL20RB,SOX14 dist=9414;dist=743794 NA NA intergenic ENSG00000174564,ENSG00000201325 dist=9413;dist=497636 NA NA NA NA 3q22.3 NA NA Name=12 NA rs141428508 0.01 0.01 0.005 0.0127796 0.0229 NA 0.0274 0.0023 0.0194 0.02 NA 0.03 0.01 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442893 NA NA NA NA NA 0.014 NA 4.3104334 1221 19 12090847 12090847 A T UTR3 ZNF763 NM_001012753:c.*923A>T NA NA UTR3 ENSG00000197054 ENST00000343949:c.*923A>T NA NA NA NA 19p13.2 NA NA NA NA rs72988679 0.02 0.02 0.017 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608552 NA NA NA NA NA 0.014 NA 4.3104334 1221 19 12059023 12059023 A G intronic ZNF700 NA NA NA ncRNA_intronic ENSG00000267274 NA NA NA NA NA 19p13.2 NA NA NA NA rs116990100 0.01 0.01 0.009 0.0135783 0.0229 0.0069 0.0144 0.003 0.0245 0.02 0.01 0.02 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623976 NA NA NA NA NA 0.007 NA 4.3104333 1221 6 29695713 29695713 C T ncRNA_intronic HLA-F-AS1 NA NA NA ncRNA_intronic ENSG00000214922 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs2523404 0.42 0.42 0.396 0.394569 0.4811 0.4355 0.3963 0.4039 0.2495 0.45 0.37 0.41 0.42 0.4237 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728076 NA NA 0.451532 0.377854 NA 0.377 NA 4.3103346 1221 6 31245736 31245736 A G intergenic HLA-C,HLA-B dist=5823;dist=75913 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=798;Name=lod=2344 NA 6p21.33 NA NA NA NA rs6906846 0.68 0.68 0.701 0.678714 0.6899 0.7411 0.6787 0.6256 0.6748 0.69 0.71 0.66 0.66 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022221 NA NA NA NA NA 0.71 NA 4.3101 1221 6 29695854 29695854 G A ncRNA_intronic HLA-F-AS1 NA NA NA ncRNA_intronic ENSG00000214922 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs2735059 0.42 0.42 0.402 0.394569 0.4811 0.4355 0.3963 0.4039 0.2495 0.45 0.37 0.41 0.42 0.424 0.45 0.51 T 0.092 B 0.011 B . . 1.000 P . . . . -1.021 T 0.027 T . 0.102 4.55 0.458 0.482 0.251 . 0.102193 NA 0 0.451783 0.377854 NA 0.377 NA 4.3097836 1221 7 105621512 105621512 G T exonic CDHR3 NA synonymous SNV CDHR3:NM_152750:exon3:c.G348T:p.L116L exonic ENSG00000128536 NA synonymous SNV ENSG00000128536:ENST00000478080:exon2:c.G84T:p.L28L,ENSG00000128536:ENST00000488386:exon2:c.G84T:p.L28L,ENSG00000128536:ENST00000317716:exon3:c.G348T:p.L116L,ENSG00000128536:ENST00000496633:exon3:c.G348T:p.L116L,ENSG00000128536:ENST00000541203:exon3:c.G348T:p.L116L,ENSG00000128536:ENST00000542731:exon3:c.G348T:p.L116L NA NA 7q22.3 NA NA NA NA rs193795 0.44 0.44 0.435 0.458067 0.4433 0.4901 0.562 0.2776 0.6104 0.44 0.52 0.52 0.27 0.4749 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379754 NA NA 0.438834 0.297291 NA 0.377 NA 4.3096326 1221 7 4308205 4308205 T A UTR3 SDK1 NM_152744:c.*3189T>A NA NA UTR3 ENSG00000146555 ENST00000404826:c.*3189T>A NA NA NA NA 7p22.2 NA NA NA NA rs10227734 0.13 0.13 0.132 0.166534 0.0239 0.0327 0.0778 0.4183 0.1738 0.02 0.04 0.07 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929606 NA NA NA NA NA 0.188 NA 4.3094334 1221 7 4308215 4308215 C A UTR3 SDK1 NM_152744:c.*3199C>A NA NA UTR3 ENSG00000146555 ENST00000404826:c.*3199C>A NA NA NA NA 7p22.2 NA NA NA NA rs10268227 0.13 0.13 0.128 0.166733 0.0239 0.0327 0.0778 0.4191 0.1738 0.02 0.04 0.07 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.730867 NA NA NA NA NA 0.188 NA 4.3094334 1221 7 4308220 4308220 T C UTR3 SDK1 NM_152744:c.*3204T>C NA NA UTR3 ENSG00000146555 ENST00000404826:c.*3204T>C NA NA NA NA 7p22.2 NA NA NA NA rs10227750 0.13 0.13 0.134 0.166733 0.0239 0.0327 0.0778 0.4191 0.1738 0.02 0.04 0.07 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898601 NA NA NA NA NA 0.188 NA 4.3094334 1221 1 94344580 94344580 C A intronic DNTTIP2 NA NA NA intronic ENSG00000067334 NA NA NA NA NA 1p22.1 NA Name=CCNT2,ELK4,YY1_(C-20),E2F6,Pol2-4H8,Pol2,NRSF,YY1 NA NA rs6675820 0.35 0.35 0.33 0.329673 0.334 0.2123 0.4438 0.438 0.2188 0.32 0.24 0.45 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409693 1.409693 NA 0.357008 0.397399 NA 0.254 NA 4.308992 1221 1 205568213 205568213 C T intronic MFSD4 NA NA NA intronic ENSG00000174514 NA NA NA NA NA 1q32.1 NA NA Name=15 NA rs2282449 0.31 0.31 0.27 0.353235 0.1849 0.6399 0.3919 0.143 0.4877 0.19 0.6 0.34 0.14 0.2864 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465087 NA NA 0.219884 0.153654 NA 0.297 NA 4.308816 1221 17 41290613 41290613 G T ncRNA_intronic NBR2 NA NA NA ncRNA_intronic ENSG00000198496 NA NA NA NA NA 17q21.31 NA NA NA NA rs11656097 0.33 0.33 0.297 0.353035 0.3579 0.372 0.3732 0.2171 0.498 0.36 0.33 0.4 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517803 NA NA NA NA NA 0.275 NA 4.3087666 1221 17 41290674 41290674 G C ncRNA_exonic NBR2 NA NA NA ncRNA_exonic ENSG00000198496 NA NA NA NA NA 17q21.31 NA NA NA NA rs2292595 0.33 0.33 0.288 0.352835 0.3579 0.372 0.3732 0.2171 0.4969 0.36 0.33 0.4 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23446 NA NA NA NA NA 0.275 NA 4.3087666 1221 6 132149285 132149285 G A intronic ENPP1 NA NA NA ncRNA_exonic ENSG00000237115 NA NA NA NA NA 6q23.2 NA NA NA NA rs9493108 0.02 0.02 0.015 0.0117812 0.0249 NA 0.0058 0.0189 0.0051 0.03 NA 0.01 0.02 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760719 NA NA NA NA NA NA NA 4.3084333 1221 15 72901549 72901549 C A intergenic MIR630,GOLGA6B dist=21895;dist=45489 NA NA ncRNA_intronic ENSG00000259783,ENSG00000260144 NA NA NA Score=505;Name=lod=150 NA 15q24.1 NA NA NA NA rs112038040 0.43 0.43 0.355 0.41853 0.6918 0.3065 0.5303 0.0484 0.6738 0.7 0.3 0.55 0.06 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765876 NA NA NA NA NA 0.391 NA 4.3082 1221 19 55119229 55119229 T G intergenic LILRA1,LILRB1 dist=5542;dist=9400 NA NA intronic ENSG00000104972 NA NA NA NA NA 19q13.42 NA Name=PAX5-C20 NA NA rs11669028 0.51 0.51 0.479 0.507987 0.3588 0.5982 0.5331 0.6331 0.3814 0.36 0.59 0.52 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72897 NA NA NA NA NA 0.594 NA 4.3078667 1221 2 234753008 234753008 G A intronic HJURP NA NA NA intronic ENSG00000123485 NA NA NA NA NA 2q37.1 NA Name=Pol2 NA NA rs169925 0.74 0.74 0.758 0.682308 0.6928 0.7163 0.7089 0.7874 0.4755 0.71 0.76 0.7 0.78 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87874 NA NA NA NA NA 0.877 NA 4.3072 1221 16 58051178 58051178 C T intronic USB1 NA NA NA intronic ENSG00000103005 NA NA NA NA NA 16q21 NA NA Name=15 NA rs4784022 0.5 0.5 0.492 0.498003 0.6928 0.498 0.4294 0.2239 0.7168 0.7 0.49 0.5 0.21 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865907 NA NA NA NA NA 0.551 NA 4.3072 1221 17 69617619 69617619 C A intergenic KCNJ2,SOX9 dist=1441436;dist=499542 NA NA downstream ENSG00000228118 NA NA NA Score=289;Name=lod=20 NA 17q24.3 NA NA NA NA rs12950256 0.12 0.12 0.114 0.10643 0.1928 0.0337 0.1023 0.0946 0.1115 0.2 0.04 0.1 0.1 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615699 NA NA NA NA NA 0.188 NA 4.3072 1221 4 74451092 74451092 T G intronic RASSF6 NA NA NA intronic ENSG00000169435 NA NA NA Score=441;Name=lod=83 NA 4q13.3 NA NA NA NA rs12508661 0.16 0.16 0.132 0.141374 0.2525 0.0754 0.353 0.0129 0.1186 0.25 0.08 0.31 0.01 0.199 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314302 NA NA 0.241335 0.051067 NA 0.21 NA 4.307165 1221 7 92760502 92760502 G A UTR3 SAMD9L NM_152703:c.*28C>T NA NA UTR3 ENSG00000177409 ENST00000318238:c.*28C>T,ENST00000411955:c.*28C>T,ENST00000437805:c.*28C>T NA NA NA NA 7q21.2 Score=884;Name=V$FOXD3_01 NA NA NA rs4268 0.56 0.56 0.591 0.568091 0.3072 0.5982 0.5072 0.9327 0.3558 0.3 0.61 0.51 0.93 0.4099 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473309 NA NA 0.309214 0.822207 NA 0.565 NA 4.3070194 1221 2 89987087 89987087 T A intergenic MIR4436A,LOC654342 dist=875119;dist=1837622 NA NA downstream ENSG00000243264 NA NA NA Score=346;Name=lod=34 NA 2p11.2 NA NA NA NA rs111330053 0.04 0.04 0.037 0.0379393 0.0696 0.0089 0.0476 0.0061 0.0716 0.08 0.01 0.02 0.02 0.0565 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998997 NA NA 0.067048 0.019343 NA 0.014 NA 4.306852 1221 15 40494952 40494952 A T intronic BUB1B NA NA NA intronic ENSG00000156970 NA NA NA NA NA 15q15.1 NA NA Name=7 NA rs2412482 0.62 0.62 0.643 0.628594 0.6938 0.3472 0.6052 0.8593 0.5562 0.7 0.35 0.61 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591219 NA NA NA NA NA 0.71 NA 4.3062 1221 4 20482461 20482461 C G intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA Name=4 NA rs16869654 0.16 0.16 0.165 0.153155 0.2515 0.0933 0.2248 0.0658 0.181 0.24 0.11 0.19 0.09 0.2021 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.329419 NA NA 0.240814 0.088062 NA 0.239 NA 4.305586 1221 3 194362620 194362620 T G UTR3 LSG1 NM_018385:c.*177A>C NA NA ncRNA_UTR3 ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs711994 0.18 0.18 0.167 0.134984 0.1948 0.1954 0.1398 0.0703 0.0951 0.21 0.2 0.17 0.1 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695814 NA NA NA NA NA 0.123 NA 4.3052 1221 12 49110248 49110248 G A intronic CCNT1 NA NA NA intronic ENSG00000129315 NA NA NA NA NA 12q13.12 Score=766;Name=V$PAX5_02 Name=CTCF,E2F6_(H-50),Pol2,YY1_(C-20),Pol2(b),Ini1,ZNF263 NA NA rs1110432 0.56 0.56 0.519 0.557308 0.5408 0.7847 0.5548 0.3154 0.6687 0.56 0.75 0.56 0.33 0.5886 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.174922 2.174922 NA 0.565581 0.320845 NA 0.486 NA 4.305019 1222 2 89309735 89309735 A G intergenic MIR4436A,NONE dist=197767;dist=NONE NA NA exonic ENSG00000241755 NA nonsynonymous SNV ENSG00000241755:ENST00000493819:exon2:c.T95C:p.F32S NA NA 2p11.2 NA NA NA NA rs80322626 0.2 0.2 NA 0.26897 0.165 0.4107 0.2781 0.1914 0.3282 0.12 0.35 0.2 0.13 0.2222 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.223476 NA 1 0.14127 0.136867 ID=COSN166177;OCCURENCE=1(breast) 0.051 NA 4.3048634 1222 7 129663292 129663292 T C intronic ZC3HC1 NA NA NA ncRNA_intronic ENSG00000244036 NA NA NA NA NA 7q32.2 NA NA NA NA rs117585966 0.01 0.01 0.009 0.0123802 0.0288 0.0079 0.0187 0.0023 0.0092 0.02 0.0017 0.03 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066708 NA NA NA NA NA 0.014 NA 4.3045333 1222 14 21189672 21189672 T C intergenic RNASE4,EDDM3A dist=20914;dist=24427 NA NA ncRNA_exonic ENSG00000259144 NA NA NA Score=782;Name=lod=2015 NA 14q11.2 NA NA NA NA rs4982347 0.6 0.6 0.579 0.615615 0.6958 0.3562 0.7075 0.6679 0.6646 0.68 0.35 0.72 0.66 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064752 NA NA NA NA NA 0.638 NA 4.3042 1222 16 15178688 15178688 C A intronic RRN3 NA NA NA intronic ENSG00000085721,ENSG00000179889 NA NA NA NA NA 16p13.11 NA Name=BATF NA NA rs8061051 0.53 0.53 0.49 0.515775 0.6958 0.4355 0.7435 0.2035 0.6738 0.7 0.46 0.74 0.22 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002658 NA NA NA NA NA 0.486 NA 4.3042 1222 7 105205955 105205955 T C ncRNA_intronic EFCAB10 NA NA NA UTR3 ENSG00000185055 ENST00000485614:c.*41A>G NA NA NA NA 7q22.3 NA NA NA NA rs861761 0.1 0.1 0.106 0.123802 0.0567 0.0823 0.0994 0.2489 0.0838 0.06 0.08 0.1 0.22 0.0807 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.246832 NA NA 0.058605 0.208125 NA 0.109 NA 4.303995 1222 7 105205917 105205917 A C ncRNA_intronic EFCAB10 NA NA NA UTR3 ENSG00000185055 ENST00000485614:c.*79T>G NA NA NA NA 7q22.3 NA NA NA NA rs864687 0.11 0.11 0.099 0.124401 0.0567 0.0823 0.0994 0.2511 0.0838 0.06 0.08 0.1 0.22 0.0809 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.908801 NA NA 0.058605 0.211984 NA 0.109 NA 4.303795 1222 4 9982330 9982330 A G exonic SLC2A9 NA synonymous SNV SLC2A9:NM_020041:exon5:c.T567C:p.L189L,SLC2A9:NM_001001290:exon6:c.T480C:p.L160L exonic ENSG00000109667 NA synonymous SNV ENSG00000109667:ENST00000264784:exon5:c.T567C:p.L189L,ENSG00000109667:ENST00000309065:exon6:c.T480C:p.L160L,ENSG00000109667:ENST00000513129:exon6:c.T480C:p.L160L,ENSG00000109667:ENST00000506583:exon7:c.T480C:p.L160L Score=456;Name=lod=95 NA 4p16.1 NA NA NA NA rs13125646 0.78 0.78 0.769 0.752396 0.8012 0.9861 0.6254 0.5628 0.8078 0.8 0.98 0.67 0.59 0.7717 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0217 NA NA 0.79 0.610531 NA 0.812 NA 4.3037666 1222 11 44626480 44626480 C A intronic CD82 NA NA NA ncRNA_intronic ENSG00000254693 NA NA NA NA NA 11p11.2 NA NA NA NA rs116871136 0.02 0.02 0.014 0.0119808 0.0298 NA 0.0303 0.0023 0.0061 0.03 NA 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937768 NA NA NA NA NA 0.007 NA 4.3035333 1222 11 62186542 62186542 G A UTR5 SCGB1A1 NM_003357:c.-26G>A NA NA UTR5 ENSG00000149021 ENST00000278282:c.-26G>A NA NA NA Name=Chronic obstructive pulmonary disease-related biomarkers 11q12.3 NA NA NA NA rs3741240 0.33 0.33 0.336 0.33147 0.3429 0.3571 0.2435 0.2201 0.5061 0.34 0.4 0.28 0.24 0.3451 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.909869 NA NA 0.341824 0.254314 NA 0.181 NA 4.3035094 1222 3 195956827 195956827 T C exonic SLC51A NA synonymous SNV SLC51A:NM_152672:exon7:c.T675C:p.L225L exonic ENSG00000163959 NA synonymous SNV ENSG00000163959:ENST00000296327:exon7:c.T675C:p.L225L NA NA 3q29 NA NA NA NA rs17852687 0.52 0.52 0.507 0.497604 0.4394 0.7897 0.4914 0.3222 0.498 0.43 0.8 0.49 0.35 0.4801 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065848 NA NA 0.443953 0.346573 NA 0.464 NA 4.3032136 1222 6 29771339 29771339 C T intergenic LOC554223,HLA-G dist=5755;dist=23417 NA NA ncRNA_exonic ENSG00000213880 NA NA NA Score=789;Name=lod=2148 NA 6p22.1 NA NA NA NA rs1632992 0.69 0.69 0.702 0.688299 0.6968 0.5595 0.7176 0.8714 0.544 0.68 0.56 0.69 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059615 NA NA NA NA NA 0.659 NA 4.3032 1222 9 123483559 123483559 G A intergenic MEGF9,FBXW2 dist=6794;dist=35695 NA NA ncRNA_exonic ENSG00000238181 NA NA NA Score=827;Name=lod=3057 NA 9q33.2 NA NA NA NA rs4837792 0.55 0.55 0.517 0.566294 0.6968 0.5794 0.7349 0.2413 0.7382 0.7 0.55 0.71 0.22 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336789 NA NA NA NA NA 0.551 NA 4.3032 1222 9 123484115 123484115 A G intergenic MEGF9,FBXW2 dist=7350;dist=35139 NA NA ncRNA_exonic ENSG00000238181 NA NA NA Score=827;Name=lod=3057 NA 9q33.2 NA NA NA NA rs10985000 0.55 0.55 0.507 0.564696 0.6968 0.5784 0.7334 0.2368 0.7382 0.7 0.55 0.71 0.22 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.331194 2.331194 NA NA NA NA 0.558 NA 4.3032 1222 9 123484232 123484232 G A intergenic MEGF9,FBXW2 dist=7467;dist=35022 NA NA ncRNA_exonic ENSG00000238181 NA NA NA Score=487;Name=lod=127 NA 9q33.2 NA NA NA NA rs10985001 0.55 0.55 0.507 0.563498 0.6968 0.5764 0.7334 0.2337 0.7382 0.7 0.55 0.71 0.21 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.368794 NA NA NA NA NA 0.543 NA 4.3032 1222 12 90147264 90147264 C A intergenic LOC338758,LINC00615 dist=41535;dist=1164536 NA NA ncRNA_exonic ENSG00000257480 NA NA NA Score=473;Name=lod=112 NA 12q21.33 NA NA NA NA rs882968 0.69 0.69 0.71 0.700679 0.6968 0.8413 0.5908 0.562 0.8252 0.69 0.8 0.61 0.62 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150718 NA NA NA NA NA 0.674 NA 4.3032 1222 12 90147434 90147434 T C intergenic LOC338758,LINC00615 dist=41705;dist=1164366 NA NA ncRNA_exonic ENSG00000257480 NA NA NA Score=635;Name=lod=508 NA 12q21.33 NA NA NA NA rs10858925 0.69 0.69 0.693 0.700679 0.6968 0.8413 0.5908 0.562 0.8252 0.69 0.8 0.61 0.6 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245399 NA NA NA NA NA 0.674 NA 4.3032 1222 20 44374806 44374806 G C intergenic SPINT4,WFDC3 dist=20471;dist=28041 NA NA ncRNA_exonic ENSG00000226188 NA NA NA Score=479;Name=lod=118 NA 20q13.12 NA NA NA NA rs426384 0.69 0.69 0.689 0.669329 0.6968 0.6518 0.7954 0.6997 0.5286 0.72 0.62 0.76 0.65 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.103494 NA NA NA NA NA 0.797 NA 4.3032 1222 9 99064396 99064396 C G UTR5 HSD17B3 NM_000197:c.-10G>C NA NA UTR5 ENSG00000130948 ENST00000375263:c.-10G>C NA NA NA NA 9q22.32 NA NA NA NA rs2066484 0.02 0.02 0.021 0.0273562 0.004 0.0526 0.0029 0.0076 0.0695 0.01 0.05 0.01 0.01 0.0194 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0649 NA NA 0.006744 0.010213 NA 0.022 NA 4.3031894 1222 1 97700589 97700589 C T ncRNA_intronic DPYD-AS1 NA NA NA ncRNA_intronic ENSG00000232878 NA NA NA NA NA 1p21.3 NA NA NA NA rs12137711 0.08 0.08 0.062 0.0880591 0.1282 0.0407 0.0735 0.0106 0.2106 0.14 0.04 0.09 0.02 0.1176 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.658606 NA NA 0.118023 0.027916 NA 0.036 NA 4.3028436 1222 14 21190253 21190253 C T intergenic RNASE4,EDDM3A dist=21495;dist=23846 NA NA ncRNA_exonic ENSG00000259144 NA NA NA Score=782;Name=lod=2015 NA 14q11.2 NA NA NA NA rs2012351 0.55 0.55 0.575 0.629393 0.6978 0.3819 0.7061 0.6967 0.6687 0.61 0.34 0.68 0.59 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565967 NA NA NA NA NA 0.638 NA 4.3022 1222 10 135000148 135000148 T C exonic KNDC1 NA synonymous SNV KNDC1:NM_152643:exon6:c.T1296C:p.A432A exonic ENSG00000171798 NA synonymous SNV ENSG00000171798:ENST00000368571:exon5:c.T1101C:p.A367A,ENSG00000171798:ENST00000304613:exon6:c.T1296C:p.A432A,ENSG00000171798:ENST00000368572:exon6:c.T1296C:p.A432A NA NA 10q26.3 NA NA NA NA rs3810965 0.4 0.4 0.362 0.416733 0.4354 0.5764 0.3847 0.118 0.6595 0.46 0.59 0.37 0.11 0.4688 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377968 NA NA 0.460428 0.163335 NA 0.37 NA 4.3020386 1222 6 42666293 42666293 G A intronic PRPH2 NA NA NA intronic ENSG00000112619 NA NA NA NA NA 6p21.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs41273820 0.19 0.19 0.223 0.212061 0.2505 0.0942 0.1988 0.2443 0.2597 0.24 0.08 0.16 0.27 0.2191 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186989 NA NA 0.228605 0.241035 NA 0.21 NA 4.301795 1222 5 135651276 135651276 G A intronic TRPC7 NA NA NA ncRNA_intronic ENSG00000250947 NA NA NA NA NA 5q31.1 NA NA NA NA rs116724206 0.01 0.01 0.005 NA NA NA NA NA NA 0.01 NA 0.01 0.002 0.014 0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.452247 3.452247 NA 0.017715 0.003811 NA 0.007 NA 4.3016183 1222 19 54947646 54947646 T C UTR3 TTYH1 NM_020659:c.*176T>C,NM_001005367:c.*100T>C,NM_001201461:c.*176T>C NA NA UTR3 ENSG00000167614 ENST00000301194:c.*176T>C,ENST00000376530:c.*176T>C,ENST00000376531:c.*100T>C NA NA NA NA 19q13.42 NA NA NA NA rs56363036 0.03 0.03 0.026 0.0413339 0.0318 0.0089 0.0447 0.0318 0.0951 0.02 0.01 0.06 0.04 NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48392 NA NA NA NA NA 0.043 NA 4.3015334 1222 4 114135583 114135583 T C intronic ANK2 NA NA NA ncRNA_exonic ENSG00000196656 NA NA NA NA NA 4q26 NA NA NA NA rs62313193 0.02 0.02 0.011 0.0109824 0.0318 NA 0.0245 0.0023 0.0031 0.03 NA 0.03 0.01 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114293 NA NA NA NA NA NA NA 4.3015333 1222 12 1489929 1489929 A G intronic ERC1 NA NA NA ncRNA_exonic ENSG00000249028 NA NA NA NA NA 12p13.33 NA NA NA NA rs17223476 0.04 0.04 0.032 0.0543131 0.0318 0.0109 0.0303 0.1188 0.0521 0.03 0.01 0.04 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.933054 NA NA NA NA NA 0.087 NA 4.3015333 1222 17 61988594 61988594 G T UTR5 CSHL1 NM_022581:c.-38C>A,NM_022579:c.-38C>A,NM_001318:c.-791C>A,NM_022580:c.-38C>A NA NA UTR5 ENSG00000204414 ENST00000561003:c.-38C>A,ENST00000259003:c.-38C>A,ENST00000438387:c.-38C>A,ENST00000346606:c.-791C>A,ENST00000450719:c.-791C>A NA NA NA NA 17q23.3 NA NA NA NA rs41318510 0.01 0.01 0 0.00479233 0.0149 0.001 0.0043 0.0008 0.0041 0.01 NA 0.0028 NA 0.0074 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065768 NA NA 0.009651 0.004993 NA NA NA 4.3013824 1222 1 45457708 45457708 G A intergenic EIF2B3,HECTD3 dist=5314;dist=10512 NA NA upstream ENSG00000268949 NA NA NA Score=609;Name=lod=398 NA 1p34.1 NA NA NA NA rs12126318 0.31 0.31 0.298 0.323682 0.1988 0.2748 0.4323 0.5045 0.181 0.2 0.25 0.36 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.471186 2.471186 NA NA NA ID=COSN163070;OCCURENCE=1(breast) 0.355 NA 4.3012 1222 4 154579793 154579793 G A intergenic KIAA0922,TLR2 dist=21931;dist=25648 NA NA ncRNA_exonic ENSG00000248208 NA NA NA Score=686;Name=lod=818 NA 4q31.3 NA NA NA NA rs6819564 0.78 0.78 0.775 0.783946 0.6988 0.874 0.8329 0.7284 0.819 0.71 0.92 0.79 0.73 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009027 NA NA NA NA NA 0.819 NA 4.3012 1222 9 123483668 123483668 A G intergenic MEGF9,FBXW2 dist=6903;dist=35586 NA NA ncRNA_exonic ENSG00000238181 NA NA NA Score=827;Name=lod=3057 NA 9q33.2 NA NA NA NA rs4836830 0.6 0.6 0.574 0.634185 0.6988 0.5804 0.755 0.4856 0.7382 0.7 0.55 0.74 0.42 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005559 NA NA NA NA NA 0.623 NA 4.3012 1222 9 123484155 123484155 A C intergenic MEGF9,FBXW2 dist=7390;dist=35099 NA NA ncRNA_exonic ENSG00000238181 NA NA NA Score=827;Name=lod=3057 NA 9q33.2 NA NA NA NA rs10818473 0.59 0.59 0.545 0.607029 0.6988 0.5754 0.7478 0.3903 0.7382 0.7 0.55 0.73 0.36 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084537 NA NA NA NA NA 0.616 NA 4.3012 1222 16 2142942 2142942 C T intronic PKD1 NA NA NA ncRNA_exonic ENSG00000259933 NA NA NA NA NA 16p13.3 NA NA NA NA rs142616270 0.01 0.01 0.005 0.00459265 0.0109 NA 0.0144 0.0015 NA 0.01 NA 0.01 0.002 0.0098 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085784 NA NA 0.011512 0.00273 NA NA NA 4.3011213 1222 21 43161022 43161022 C T exonic RIPK4 NA synonymous SNV RIPK4:NM_020639:exon8:c.G2331A:p.T777T exonic ENSG00000183421 NA synonymous SNV ENSG00000183421:ENST00000332512:exon8:c.G2331A:p.T777T,ENSG00000183421:ENST00000542057:exon8:c.G2142A:p.T714T,ENSG00000183421:ENST00000544709:exon8:c.G2142A:p.T714T,ENSG00000183421:ENST00000352483:exon9:c.G2475A:p.T825T NA NA 21q22.3 NA NA NA NA rs7276592 0.47 0.47 0.391 0.445487 0.4851 0.5933 0.4654 0.2799 0.4622 0.49 0.62 0.49 0.28 0.4531 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.976141 NA NA 0.428202 0.307094 NA 0.348 NA 4.3002646 1222 5 68150992 68150992 T C intergenic PIK3R1,SLC30A5 dist=553343;dist=238784 NA NA ncRNA_intronic ENSG00000249335 NA NA NA Score=582;Name=lod=309 NA 5q13.1 NA NA NA NA rs6887308 0.71 0.71 0.691 0.71266 0.6998 0.6647 0.7954 0.7337 0.6881 0.69 0.69 0.78 0.7 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773258 NA NA NA NA NA 0.739 NA 4.3002 1222 11 90016778 90016778 G A intergenic CHORDC1,MIR4490 dist=60246;dist=272164 NA NA ncRNA_exonic ENSG00000214391 NA NA NA Score=892;Name=lod=5600 NA 11q14.3 NA NA NA NA rs7101903 0.68 0.68 0.674 0.641374 0.6998 0.7718 0.6599 0.5113 0.6094 0.7 0.82 0.69 0.51 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.859213 NA 1 NA NA NA 0.674 NA 4.3002 1222 19 50475017 50475017 G A ncRNA_intronic SIGLEC16 NA NA NA ncRNA_intronic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs12462972 0.22 0.22 0.205 0.190695 0.1789 0.3323 0.1556 0.1558 0.1288 0.18 0.32 0.17 0.18 0.1876 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662682 NA NA NA NA NA 0.13 NA 4.3001666 1222 6 158327269 158327269 T C intronic SNX9 NA NA NA intronic ENSG00000130340 NA NA NA NA NA 6q25.3 NA NA Name=14 NA rs9365567 0.22 0.22 0.228 0.223442 0.2475 0.1369 0.1427 0.2905 0.2546 0.25 0.13 0.16 0.33 0.2219 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.845529 NA NA 0.230814 0.262596 NA 0.159 NA 4.299786 1222 10 101157160 101157160 G A UTR3 GOT1 NM_002079:c.*144C>T NA NA UTR3 ENSG00000120053 ENST00000370508:c.*144C>T NA NA NA NA 10q24.2 NA NA NA NA rs11867 0.05 0.05 0.049 0.0567093 0.0338 0.0704 0.0259 0.0681 0.0726 0.03 0.06 0.03 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682054 NA NA NA NA NA 0.051 NA 4.2995334 1222 2 101591844 101591844 G T intronic NPAS2 NA NA NA ncRNA_exonic ENSG00000230140 NA NA NA NA NA 2q11.2 NA NA NA NA rs17025128 0.02 0.02 0.01 0.0115815 0.0338 0.001 0.0216 0.0015 0.0061 0.03 0.0017 0.02 0.0041 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.397337 NA NA NA NA NA 0.022 NA 4.2995333 1222 8 66620359 66620359 G A exonic MTFR1 NA synonymous SNV MTFR1:NM_001145839:exon7:c.G1046A:p.X349X intronic ENSG00000066855 NA NA NA NA NA 8q13.1 NA NA Name=27 NA rs13274205 0.32 0.32 0.311 0.277356 0.5348 NA 0.3156 0.3215 0.2117 0.55 NA 0.35 0.32 0.4456 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395184 NA NA 0.553426 0.34104 NA 0.326 NA 4.2995073 1222 17 76496361 76496361 C G ncRNA_exonic LOC100996295 NA NA NA exonic ENSG00000268470 NA nonsynonymous SNV ENSG00000268470:ENST00000598378:exon1:c.C293G:p.S98C NA NA 17q25.3 NA NA NA NA rs34124297 0.47 0.47 0.454 0.429113 0.3867 0.6865 0.4179 0.3177 0.3661 0.41 0.67 0.41 0.37 0.4622 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749283 NA NA 0.351625 0.329224 NA 0.464 NA 4.299475 1222 13 32348859 32348859 T C intronic RXFP2 NA NA NA intronic ENSG00000133105 NA NA NA NA NA 13q13.1 NA Name=STAT3 NA NA rs9549049 0.23 0.23 0.205 0.21885 0.2326 0.2659 0.2478 0.1596 0.2157 0.23 0.28 0.22 0.16 0.2343 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.786706 2.786706 NA 0.233651 0.192779 NA 0.246 NA 4.299449 1222 2 132349509 132349509 G T ncRNA_intronic RNU6-81P NA NA NA ncRNA_exonic ENSG00000204434 NA NA NA NA NA 2q21.1 NA NA NA NA rs12994124 0.25 0.25 0.222 0.225439 0.3678 0.1548 0.2075 0.1505 0.2658 0.37 0.18 0.26 0.14 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075654 NA NA NA NA NA 0.065 NA 4.2988666 1222 19 3544971 3544971 C T intronic MFSD12 NA NA NA ncRNA_intronic ENSG00000267436 NA NA NA NA NA 19p13.3 NA Name=Pol2 NA NA rs12976454 0.42 0.42 0.364 0.365815 0.332 0.8075 0.4914 0.0159 0.3292 0.34 0.83 0.44 0.04 0.4119 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186674 NA NA 0.291657 0.05904 NA 0.297 NA 4.2977763 1222 12 6946247 6946247 G T exonic LEPREL2 NA unknown UNKNOWN exonic ENSG00000110811 NA synonymous SNV ENSG00000110811:ENST00000251761:exon10:c.G1002T:p.A334A,ENSG00000110811:ENST00000396725:exon11:c.G1554T:p.A518A NA NA 12p13.31 NA NA NA NA rs1129646 0.37 0.37 0.373 0.391374 0.3469 0.3542 0.3804 0.4743 0.3712 0.34 0.3 0.41 0.46 0.3528 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1856 NA NA 0.3359 0.421923 ID=COSM431758,COSM431757;OCCURENCE=1(breast) 0.355 NA 4.2977333 1222 11 14279220 14279220 C T intronic SPON1 NA NA NA ncRNA_intronic ENSG00000152268 NA NA NA NA NA 11p15.2 NA NA NA NA rs116877548 0.0046 0.0046 0.003 0.00339457 0.0119 NA 0.0058 NA 0.001 0.01 NA 0.01 NA 0.0102 0.014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063184 NA NA 0.013737 0.00274 NA 0.007 NA 4.2974963 1222 2 31489575 31489575 G A UTR3 EHD3 NM_014600:c.*5G>A NA NA UTR3 ENSG00000013016 ENST00000541626:c.*507G>A,ENST00000322054:c.*5G>A NA NA NA NA 2p23.1 NA NA NA NA rs77999318 0.01 0.01 0.006 0.00519169 0.0149 NA 0.0115 0.0008 0.002 0.02 NA 0.01 0.002 0.009 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358345 NA NA 0.011977 0.002497 NA NA NA 4.2974564 1222 1 109807099 109807099 G A exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon11:c.G5313A:p.P1771P exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon11:c.G5313A:p.P1771P NA NA 1p13.3 NA NA NA NA rs6689614 0.39 0.39 0.377 0.353035 0.4751 0.497 0.4654 0.0764 0.3732 0.46 0.51 0.49 0.08 0.4286 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.754711 NA NA 0.465698 0.132093 ID=COSM1178398;OCCURENCE=1(prostate) 0.326 NA 4.2972686 1222 5 55800724 55800724 C T intergenic ANKRD55,MAP3K1 dist=271538;dist=310176 NA NA ncRNA_exonic ENSG00000226221 NA NA NA Score=767;Name=lod=1752 NA 5q11.2 NA NA NA NA rs25789 0.46 0.46 0.414 0.45028 0.7028 0.2242 0.6398 0.1982 0.6299 0.71 0.2 0.66 0.2 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363606 NA NA NA NA NA 0.464 NA 4.2972 1222 5 144609070 144609070 A G intergenic KCTD16,PRELID2 dist=752126;dist=529512 NA NA ncRNA_exonic ENSG00000215325 NA NA NA Score=452;Name=lod=92 NA 5q32 NA NA NA NA rs2547003 0.74 0.74 0.712 0.69349 0.7028 0.755 0.7983 0.7723 0.4397 0.71 0.75 0.75 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070961 NA NA NA NA NA 0.754 NA 4.2972 1222 20 31826027 31826027 T C intronic BPIFA1 NA NA NA intronic ENSG00000198183 NA NA NA NA NA 20q11.21 NA Name=JunD NA NA rs6059183 0.23 0.23 0.211 0.235823 0.2286 0.2113 0.1484 0.3298 0.2035 0.23 0.18 0.16 0.33 0.2379 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644372 NA NA 0.236628 0.358148 NA 0.188 NA 4.296872 1222 3 140998113 140998113 C T intronic ACPL2 NA NA NA ncRNA_intronic ENSG00000249417 NA NA NA NA NA 3q23 NA NA NA NA rs75586664 0.08 0.08 0.071 0.0848642 0.0368 0.129 0.0418 0.1112 0.0838 0.03 0.16 0.03 0.1 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099354 NA NA NA NA NA 0.051 NA 4.2965333 1222 10 52569637 52569637 G A intronic A1CF NA NA NA intronic ENSG00000148584 NA NA NA NA NA 10q11.23 NA Name=STAT3 NA NA rs10994563 0.13 0.13 0.123 0.123802 0.2515 0.0685 0.1484 0.0129 0.182 0.25 0.07 0.13 0.02 0.1965 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040082 NA NA 0.255581 0.061053 NA 0.138 NA 4.296419 1222 4 62861964 62861964 A T intronic LPHN3 NA NA NA intronic ENSG00000150471 NA NA NA NA NA 4q13.1 NA NA Name=11 NA rs56038622 0.26 0.26 0.271 0.242612 0.2276 0.3393 0.2248 0.2088 0.2168 0.24 0.32 0.25 0.24 0.2407 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643244 NA NA 0.235329 0.214684 NA 0.174 NA 4.296371 1222 3 194379959 194379959 T C intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA Name=15 NA rs1773194 0.65 0.65 0.617 0.637181 0.7038 0.8651 0.6254 0.3374 0.7474 0.72 0.86 0.62 0.35 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00957 NA NA NA NA NA 0.543 NA 4.2962 1222 11 65319265 65319265 T C intronic LTBP3 NA NA NA intronic ENSG00000168056 NA NA NA NA NA 11q13.1 NA Name=USF-1,ERRA,ZNF274,HDAC2_(SC-6296),HNF4A_(H-171),FOXA1_(C-20),RXRA,FOXA1_(SC-101058),FOXA2_(SC-6554),SP1,TR4,USF2 NA NA rs11227221 0.59 0.59 0.548 0.550919 0.7038 0.6905 0.7233 0.2239 0.5695 0.71 0.66 0.69 0.24 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988025 NA NA NA NA NA 0.5 NA 4.2962 1222 14 90509564 90509564 C T UTR3 TDP1 NM_018319:c.*77C>T,NM_001008744:c.*77C>T NA NA UTR3 ENSG00000042088 ENST00000554976:c.*1463C>T,ENST00000393452:c.*180C>T,ENST00000393454:c.*77C>T,ENST00000335725:c.*77C>T,ENST00000357382:c.*77C>T,ENST00000545686:c.*1227C>T,ENST00000555178:c.*1089C>T,ENST00000555880:c.*58C>T NA NA NA NA 14q32.11 NA NA NA NA rs9488 0.18 0.18 0.205 0.21845 0.0378 0.0417 0.111 0.6286 0.1084 0.04 0.05 0.12 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014142 NA NA NA NA NA 0.196 NA 4.2955334 1222 22 51010306 51010306 C G ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA NA NA rs145985628 0.02 0.02 0.009 0.0151757 0.0378 NA 0.0274 0.0038 0.0143 0.04 NA 0.02 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212463 NA NA NA NA NA 0.014 NA 4.2955333 1222 11 6291659 6291659 G C intronic CCKBR NA NA NA intronic ENSG00000110148 NA NA NA NA NA 11p15.4 NA Name=CTCF NA NA rs12364575 0.66 0.66 0.625 0.644369 0.7048 0.9246 0.7305 0.2088 0.8211 0.73 0.92 0.72 0.23 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.260141 NA NA NA NA NA 0.703 NA 4.2952 1222 16 72039605 72039605 G T intergenic PKD1L3,DHODH dist=5728;dist=3038 NA NA ncRNA_exonic ENSG00000263232 NA NA NA Score=791;Name=lod=2176 NA 16q22.2 NA NA NA NA rs1820248 0.83 0.83 0.83 0.847045 0.7048 0.9653 0.8761 0.8918 0.7904 0.69 0.96 0.86 0.88 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735414 NA NA NA NA NA 0.725 NA 4.2952 1222 17 53638670 53638670 C A intergenic MMD,TMEM100 dist=139329;dist=158318 NA NA ncRNA_exonic ENSG00000236319 NA NA NA Score=536;Name=lod=202 NA 17q22 NA NA NA NA rs8069305 0.51 0.51 0.455 0.481629 0.7048 0.4028 0.7464 0.1142 0.6421 0.69 0.46 0.72 0.12 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499511 NA NA NA NA NA 0.391 NA 4.2952 1222 6 24551624 24551624 A G intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs2076313 0.26 0.26 0.265 0.281749 0.2475 0.1131 0.1772 0.531 0.228 0.25 0.11 0.2 0.52 0.2354 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099028 NA NA 0.222093 0.479573 NA 0.312 NA 4.295007 1223 1 74701107 74701107 C T UTR5 TNNI3K NM_015978:c.-29C>T NA NA UTR5 ENSG00000116783 ENST00000326637:c.-29C>T NA NA NA NA 1p31.1 NA NA NA NA rs41289180 0.01 0.01 0.007 0.00559105 0.0159 NA 0.0144 0.0008 0.001 0.02 NA 0.01 NA 0.0089 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396632 NA NA 0.013617 0.002724 NA NA NA 4.2949164 1223 1 207872657 207872657 C T intronic CR1L NA NA NA intronic ENSG00000197721 NA NA NA NA NA 1q32.2 NA Name=CTCF NA NA rs12748243 0.14 0.14 0.121 0.111621 0.2535 0.0317 0.1441 0.053 0.1043 0.26 0.04 0.18 0.05 0.1886 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305779 NA NA 0.26303 0.090042 NA 0.051 NA 4.29487 1223 21 47422412 47422412 C T intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA Name=ERalpha_a NA NA rs35796750 0.57 0.57 0.551 0.551318 0.5994 0.7202 0.6383 0.3343 0.5593 0.6 0.72 0.61 0.32 0.562 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653591 NA NA 0.544535 0.361552 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079787.1;CLNDSDB=.;CLNDSDBID=. 4.294065 1223 15 70342341 70342341 T C UTR3 TLE3 NM_001105192:c.*95A>G,NM_005078:c.*95A>G,NM_020908:c.*95A>G NA NA UTR3 ENSG00000140332 ENST00000558939:c.*95A>G,ENST00000442299:c.*95A>G,ENST00000317509:c.*95A>G,ENST00000557919:c.*1050A>G,ENST00000560525:c.*786A>G,ENST00000559929:c.*95A>G,ENST00000560589:c.*95A>G,ENST00000561453:c.*1050A>G,ENST00000557997:c.*95A>G,ENST00000560939:c.*95A>G,ENST00000559048:c.*95A>G,ENST00000440567:c.*95A>G,ENST00000558201:c.*95A>G,ENST00000539550:c.*95A>G,ENST00000559191:c.*95A>G NA NA NA NA 15q23 NA NA NA NA rs71393476 0.02 0.02 0.024 0.0113818 0.0398 NA 0.0159 0.0008 0.0051 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.125509 2.125509 NA NA NA NA 0.014 NA 4.2935334 1223 1 21583973 21583973 A G intronic ECE1 NA NA NA intronic ENSG00000117298 NA NA NA NA NA 1p36.12 NA NA Name=8 NA rs3026879 0.16 0.16 0.136 0.145168 0.2386 0.131 0.2651 0.0182 0.1503 0.23 0.13 0.24 0.02 0.216 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138295 NA NA 0.252093 0.054698 NA 0.087 NA 4.293307 1223 1 1895177 1895177 C T intronic KIAA1751 NA NA NA intronic ENSG00000142609 NA NA NA NA NA 1p36.33 NA Name=FOXA1_(C-20),FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs7523728 0.2 0.2 0.194 0.166534 0.2386 0.1756 0.1888 0.1293 0.1176 0.24 0.21 0.2 0.12 0.2218 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255007 NA NA 0.246472 0.151238 NA 0.246 NA 4.293128 1223 7 134872003 134872003 C G intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA Name=Pol2-4H8,Pol2 NA NA rs292558 0.72 0.72 0.688 0.711462 0.7078 0.8214 0.8357 0.4939 0.8078 0.72 0.83 0.82 0.53 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252641 NA NA NA NA NA 0.739 NA 4.2922 1223 7 134873355 134873355 G A intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA NA Name=16 NA rs292564 0.72 0.72 0.701 0.712061 0.7078 0.8204 0.8372 0.4962 0.8078 0.72 0.82 0.82 0.53 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241514 NA NA NA NA NA 0.732 NA 4.2922 1223 10 30807338 30807338 A G intergenic MAP3K8,LYZL2 dist=56576;dist=93370 NA NA ncRNA_exonic ENSG00000213778 NA NA NA Score=715;Name=lod=1078 NA 10p11.23 NA NA NA NA rs2009540 0.83 0.83 0.837 0.823682 0.7078 0.8829 0.8314 0.8676 0.817 0.72 0.91 0.83 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243496 NA NA NA NA NA 0.674 NA 4.2922 1223 12 6601743 6601743 A C intronic MRPL51 NA NA NA intronic ENSG00000111639 NA NA NA NA NA 12p13.31 Score=900;Name=V$GATA_C NA NA NA rs1001127 0.78 0.78 0.792 0.792332 0.7078 0.6696 0.8343 0.9826 0.7188 0.71 0.67 0.82 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6618 NA NA NA NA NA 0.826 NA 4.2922 1223 10 43695049 43695049 T C intronic RASGEF1A NA NA NA intronic ENSG00000198915 NA NA NA NA NA 10q11.21 NA Name=ZNF263 NA NA rs1254964 0.81 0.81 0.809 0.826677 0.7087 0.9395 0.7853 0.8185 0.8722 0.71 0.94 0.74 0.85 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370614 NA NA NA NA NA 0.746 NA 4.2913 1223 10 52487724 52487724 T C intergenic SGMS1,ASAH2B dist=103987;dist=11964 NA NA ncRNA_exonic ENSG00000213667 NA NA NA Score=775;Name=lod=1882 NA 10q11.23 NA NA NA NA rs10821669 0.68 0.68 0.633 0.637979 0.7087 0.8462 0.7968 0.3669 0.6043 0.71 0.85 0.8 0.36 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107196 NA NA NA NA NA 0.688 NA 4.2913 1223 1 39991474 39991474 A C ncRNA_UTR3 BMP8A NA NA NA ncRNA_UTR3 ENSG00000183682 NA NA NA NA NA 1p34.3 NA NA NA NA rs11583829 0.09 0.09 0 0.091853 0.2117 0.0218 0.072 0.0756 0.0767 0.18 0.01 0.09 0.07 0.1372 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164535 NA NA 0.026512 0.005447 NA NA NA 4.2912546 1223 4 141543997 141543997 G A exonic TBC1D9 NA synonymous SNV TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H exonic ENSG00000109436 NA synonymous SNV ENSG00000109436:ENST00000442267:exon21:c.C3153T:p.H1051H Score=519;Name=lod=172 NA 4q31.21 NA NA NA NA rs1560440 0.78 0.78 0.777 0.822484 0.8062 0.6339 0.8343 0.9274 0.8834 0.8 0.62 0.85 0.9 0.8045 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230762 NA NA 0.764887 0.885956 ID=COSM1427258,COSM1427259;OCCURENCE=1(large_intestine) 0.804 NA 4.2910796 1223 17 25909850 25909850 G T exonic KSR1 NA synonymous SNV KSR1:NM_014238:exon5:c.G288T:p.L96L exonic ENSG00000141068 NA synonymous SNV ENSG00000141068:ENST00000319524:exon4:c.G699T:p.L233L,ENSG00000141068:ENST00000509603:exon4:c.G699T:p.L233L,ENSG00000141068:ENST00000268763:exon5:c.G288T:p.L96L,ENSG00000141068:ENST00000398988:exon5:c.G288T:p.L96L,ENSG00000141068:ENST00000583370:exon6:c.G288T:p.L96L NA NA 17q11.2 NA NA NA NA rs2293181 0.43 0.43 0.418 0.383187 0.4911 0.4067 0.438 0.3351 0.274 0.5 0.42 0.43 0.36 0.4341 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.046131 NA NA 0.450855 0.322465 NA 0.326 NA 4.2906116 1223 1 94487354 94487354 G A intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA Name=8 NA rs472908 0.58 0.58 0.608 0.588858 0.5586 0.4633 0.5692 0.7648 0.5256 0.56 0.46 0.57 0.77 0.5819 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733061 NA NA 0.56907 0.749773 NA 0.58 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085672.1;CLNDSDB=.;CLNDSDBID=. 4.29043 1223 1 185984517 185984517 T C exonic HMCN1 NA synonymous SNV HMCN1:NM_031935:exon31:c.T4857C:p.H1619H exonic ENSG00000143341 NA synonymous SNV ENSG00000143341:ENST00000271588:exon31:c.T4857C:p.H1619H,ENSG00000143341:ENST00000367492:exon31:c.T4857C:p.H1619H NA NA 1q31.1 NA NA NA NA rs6665753 0.34 0.34 0.305 0.343051 0.4781 0.4216 0.4337 0.0325 0.4785 0.47 0.4 0.41 0.05 0.4271 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002369 NA NA 0.47104 0.103268 NA 0.333 NA 4.2904266 1223 14 22294079 22294079 T G intergenic OR4E2,DAD1 dist=159841;dist=739728 NA NA exonic ENSG00000211784 NA synonymous SNV ENSG00000211784:ENST00000390432:exon2:c.T183G:p.T61T NA NA 14q11.2 NA NA NA NA rs10459428 0.08 0.08 0.079 0.0784744 0.0736 0.121 0.0519 0.0658 0.0757 0.07 0.15 0.05 0.05 0.0703 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343028 NA NA 0.065799 0.061297 NA 0.087 NA 4.290301 1223 1 94476555 94476555 G A intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs537831 0.68 0.68 0.7 0.691494 0.7097 0.8194 0.745 0.447 0.8333 0.72 0.78 0.73 0.45 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.970888 NA NA NA NA NA 0.652 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085743.1;CLNDSDB=.;CLNDSDBID=. 4.2903 1223 20 10367909 10367909 A C intergenic SNAP25,MKKS dist=79843;dist=17519 NA NA ncRNA_exonic ENSG00000230750 NA NA NA Score=769;Name=lod=1776 NA 20p12.2 NA NA NA NA rs6108519 0.59 0.59 0.554 0.578474 0.7097 0.3532 0.7954 0.5915 0.5041 0.7 0.35 0.73 0.59 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83816 NA NA NA NA NA 0.601 NA 4.2903 1223 16 23692405 23692405 A G intronic PLK1 NA NA NA intronic ENSG00000166851 NA NA NA NA NA 16p12.2 NA Name=ZNF263 NA NA rs40076 0.3 0.3 0.274 0.3127 0.2326 0.4454 0.2925 0.3011 0.2883 0.23 0.44 0.27 0.28 0.2581 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.62037 2.62037 NA 0.21907 0.2731 NA 0.312 NA 4.29023 1223 6 32523269 32523269 C T ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs34405098 NA NA NA 0.419928 0.3767 0.3889 0.3444 0.5703 0.3466 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650309 NA NA NA NA NA 0.043 NA 4.2899666 1223 1 207288897 207288897 T C intronic C4BPA NA NA NA intronic ENSG00000123838 NA NA NA NA NA 1q32.2 NA Name=CEBPB,p300_(N-15),c-Jun,JunD Name=23 NA rs12031629 0.51 0.51 0.462 0.455671 0.5606 0.5714 0.5187 0.2398 0.4755 0.59 0.58 0.55 0.28 0.5673 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660234 NA NA 0.582461 0.291004 ID=COSN163413;OCCURENCE=1(NS) 0.391 NA 4.289639 1223 4 15010113 15010113 G A intronic CPEB2 NA NA NA ncRNA_intronic ENSG00000249252 NA NA NA NA NA 4p15.33 NA NA NA NA rs75021526 0.02 0.02 0.02 0.0153754 0.0437 0.001 0.0231 0.0023 0.0133 0.05 0.0017 0.03 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728809 NA NA NA NA NA NA NA 4.2896333 1223 3 43121559 43121559 C T exonic GTDC2 NA synonymous SNV GTDC2:NM_032806:exon2:c.G1365A:p.P455P exonic ENSG00000144647 NA synonymous SNV ENSG00000144647:ENST00000344697:exon2:c.G1365A:p.P455P,ENSG00000144647:ENST00000441964:exon3:c.G1365A:p.P455P NA NA 3p22.1 Score=827;Name=V$NFKB_Q6 NA NA NA rs604033 0.79 0.79 0.795 0.782748 0.7922 0.7401 0.8127 0.8275 0.7352 0.8 0.72 0.84 0.84 0.786 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064769 NA NA 0.79907 0.814571 NA 0.804 NA 4.2893966 1223 6 32523235 32523235 T C ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs73726814 NA NA 0.376 0.420927 0.3777 0.3899 0.3458 0.5711 0.3476 NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087848 NA NA NA NA NA 0.065 NA 4.2889666 1223 6 33095615 33095615 T C ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA NA NA 6p21.32 NA NA NA NA rs3117014 0.35 0.35 0.32 0.366014 0.3777 0.4901 0.3444 0.1876 0.4826 0.36 0.51 0.31 0.18 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148336 NA NA NA NA NA 0.312 NA 4.2889666 1223 6 33095636 33095636 A G ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA NA NA 6p21.32 NA NA NA NA rs3117013 0.35 0.35 0.298 0.368011 0.3777 0.494 0.3444 0.1876 0.4888 0.36 0.51 0.31 0.18 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351075 NA NA NA NA NA 0.312 NA 4.2889666 1223 6 33095684 33095684 A G ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA NA NA 6p21.32 NA NA NA NA rs3117012 0.35 0.35 0.311 0.369609 0.3777 0.4901 0.3458 0.2005 0.4826 0.36 0.51 0.31 0.19 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450886 NA NA NA NA NA 0.312 NA 4.2889666 1223 6 33095737 33095737 G A ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA NA NA 6p21.32 NA NA NA NA rs9277762 0.35 0.35 0.305 0.366014 0.3777 0.4901 0.3444 0.1876 0.4826 0.36 0.51 0.31 0.18 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804809 NA NA NA NA NA 0.312 NA 4.2889666 1223 6 33095748 33095748 C G ncRNA_exonic HLA-DPB2 NA NA NA ncRNA_exonic ENSG00000224557 NA NA NA NA NA 6p21.32 NA NA NA NA rs9277763 0.35 0.35 0.305 0.366014 0.3777 0.4901 0.3444 0.1876 0.4826 0.36 0.51 0.31 0.18 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.71932 NA NA NA NA NA 0.319 NA 4.2889666 1223 15 93339219 93339219 T C ncRNA_exonic ASB9P1 NA NA NA ncRNA_exonic ENSG00000258527 NA NA NA NA NA 15q26.1 NA NA NA NA rs7164758 0.26 0.26 0.272 0.275359 0.1799 0.119 0.1441 0.6505 0.1207 0.17 0.12 0.17 0.63 0.1979 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.204759 NA 0.33 NA NA NA 0.232 NA 4.2888666 1223 6 10398562 10398562 G T UTR3 TFAP2A NM_001042425:c.*88C>A,NM_001032280:c.*88C>A,NM_003220:c.*88C>A NA NA UTR3 ENSG00000137203 ENST00000379613:c.*88C>A,ENST00000379604:c.*88C>A,ENST00000489805:c.*899C>A,ENST00000319516:c.*88C>A,ENST00000488193:c.*899C>A,ENST00000379608:c.*88C>A,ENST00000482890:c.*88C>A NA NA NA NA 6p24.3 NA NA NA NA rs10456013 0.02 0.02 0.024 0.0129792 0.0447 NA 0.0115 0.0015 0.0102 0.04 NA 0.01 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593358 NA NA NA NA NA NA NA 4.2886334 1223 6 159032234 159032234 A G intronic TMEM181 NA NA NA ncRNA_exonic ENSG00000218226 NA NA NA NA NA 6q25.3 NA NA NA NA rs9456330 0.02 0.02 0.021 0.0253594 0.0447 0.001 0.036 0.0023 0.0542 0.04 0.0017 0.05 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624483 NA NA NA NA NA 0.022 NA 4.2886333 1223 13 99105389 99105389 A C UTR3 STK24 NM_001032296:c.*38T>G,NM_003576:c.*38T>G NA NA UTR3 ENSG00000102572 ENST00000397517:c.*38T>G,ENST00000376554:c.*38T>G,ENST00000376547:c.*38T>G,ENST00000539966:c.*38T>G NA NA NA NA 13q32.2 NA NA NA NA rs72652256 0.01 0.01 0.004 0.00638978 0.0199 NA 0.013 0.0023 NA 0.02 NA 0.01 0.002 0.0117 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.520613 NA NA 0.01314 0.002497 NA 0.072 NA 4.2885934 1223 17 67003868 67003868 G A intronic ABCA9 NA NA NA ncRNA_intronic ENSG00000231749 NA NA NA NA NA 17q24.2 NA NA NA NA rs71375717 0.01 0.01 0.011 0.0061901 0.0209 NA 0.0144 NA NA 0.02 NA 0.02 NA 0.0093 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47123 NA NA 0.014685 0.002726 NA NA NA 4.2884483 1223 22 17669151 17669151 C T intronic CECR1 NA NA NA intronic ENSG00000093072 NA NA NA NA NA 22q11.1 NA Name=CTCF NA NA rs2231496 0.71 0.71 0.687 0.67492 0.7117 0.87 0.7161 0.5106 0.6288 0.71 0.88 0.72 0.53 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596943 NA NA NA NA NA 0.739 NA 4.2883 1223 17 45691151 45691151 A T intronic NPEPPS NA NA NA ncRNA_intronic ENSG00000263766 NA NA NA NA NA 17q21.32 NA NA NA NA rs79336981 0.01 0.01 0.007 0.0061901 0.0219 NA 0.0072 0.0008 0.0031 0.02 NA 0.01 0.0041 NA 0.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61539 NA NA 0.023256 0.005058 NA NA NA 4.2881773 1223 6 133836430 133836430 G A intronic EYA4 NA NA NA ncRNA_intronic ENSG00000227954 NA NA NA NA NA 6q23.2 NA NA NA NA rs56378005 0.01 0.01 0.01 0.00539137 0.0169 NA 0.0101 0.0008 0.002 0.02 NA 0.02 NA 0.012 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309353 NA NA 0.016395 0.003631 NA NA NA 4.2880383 1223 19 50475174 50475174 A C ncRNA_intronic SIGLEC16 NA NA NA ncRNA_exonic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs12462945 0.22 0.22 0.199 0.197484 0.1849 0.3323 0.1614 0.1732 0.1299 0.18 0.32 0.18 0.2 0.1943 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119682 NA NA NA NA NA 0.145 NA 4.2874666 1223 18 6985631 6985631 C T exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon38:c.G5391A:p.L1797L exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon38:c.G5391A:p.L1797L NA NA 18p11.31 NA NA NA NA rs617206 0.55 0.55 0.529 0.552117 0.4374 0.6687 0.5908 0.5174 0.5695 0.46 0.71 0.53 0.54 0.5151 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947348 NA NA 0.426977 0.498184 NA 0.442 NA 4.2871896 1223 17 76475067 76475067 A G intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA Name=4 NA rs56372780 0.34 0.34 0.364 0.374401 0.2157 0.2996 0.2666 0.6785 0.2802 0.22 0.29 0.26 0.66 0.2856 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250113 NA NA 0.212378 0.56655 NA 0.384 NA 4.286322 1223 3 66465259 66465259 T C intronic LRIG1 NA NA NA intronic ENSG00000144749 NA NA NA NA NA 3p14.1 Score=909;Name=V$PAX4_03 NA NA NA rs4856928 0.68 0.68 0.673 0.664137 0.7137 0.9544 0.5706 0.3941 0.7454 0.71 0.94 0.61 0.39 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002193 NA NA NA NA NA 0.551 NA 4.2863 1223 16 28251856 28251856 C T intergenic XPO6,SBK1 dist=28617;dist=51984 NA NA ncRNA_exonic ENSG00000250982 NA NA NA Score=780;Name=lod=1965 NA 16p11.2 NA NA NA NA rs9939733 0.63 0.63 0.624 0.605431 0.7137 0.6954 0.5476 0.407 0.7106 0.71 0.73 0.57 0.43 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272942 NA NA NA NA NA 0.645 NA 4.2863 1223 16 28251879 28251879 G A intergenic XPO6,SBK1 dist=28640;dist=51961 NA NA ncRNA_exonic ENSG00000250982 NA NA NA Score=780;Name=lod=1965 NA 16p11.2 NA NA NA NA rs28532123 0.63 0.63 0.624 0.610024 0.7137 0.7063 0.5504 0.407 0.7209 0.71 0.74 0.58 0.43 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.953939 2.953939 NA NA NA NA 0.652 NA 4.2863 1223 19 9346427 9346427 T C intergenic OR7D4,OR7E24 dist=20880;dist=15293 NA NA ncRNA_exonic ENSG00000188314 NA NA NA NA NA 19p13.2 NA NA NA NA rs1968136 0.84 0.84 0.807 0.814696 0.8688 0.8621 0.9035 0.7988 0.6687 0.86 0.85 0.9 0.76 0.8449 0.9 1 T . . . . . . . . . . . . -0.955 T 0.000 T . -3.2 0.001 2.61 0.477 -0.548 8.554 -3.199504 NA 1 NA NA NA 0.775 NA 4.2863 1223 5 54563473 54563473 A G intronic DHX29 NA NA NA ncRNA_intronic ENSG00000251307 NA NA NA NA NA 5q11.2 NA NA NA NA rs113232371 0.01 0.01 0.003 0.0157748 0.0099 NA 0.0187 0.0386 0.0051 0.01 NA 0.02 0.03 0.0155 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.510137 NA NA 0.021744 0.040172 NA NA NA 4.2861893 1223 12 56348028 56348028 G A exonic PMEL NA synonymous SNV PMEL:NM_001200053:exon9:c.C1698T:p.N566N,PMEL:NM_001200054:exon11:c.C1977T:p.N659N,PMEL:NM_006928:exon12:c.C1956T:p.N652N exonic ENSG00000185664 NA synonymous SNV ENSG00000185664:ENST00000550447:exon7:c.C843T:p.N281N,ENSG00000185664:ENST00000550464:exon9:c.C1698T:p.N566N,ENSG00000185664:ENST00000539511:exon10:c.C1698T:p.N566N,ENSG00000185664:ENST00000449260:exon11:c.C1977T:p.N659N,ENSG00000185664:ENST00000548747:exon11:c.C1956T:p.N652N,ENSG00000185664:ENST00000360714:exon12:c.C1977T:p.N659N,ENSG00000185664:ENST00000548493:exon12:c.C1956T:p.N652N,ENSG00000185664:ENST00000552882:exon12:c.C1956T:p.N652N,ENSG00000185664:ENST00000536427:exon13:c.C1851T:p.N617N Score=284;Name=lod=19 NA 12q13.2 NA NA NA NA rs1052206 0.73 0.73 0.743 0.719449 0.7932 0.7748 0.7522 0.5076 0.8497 0.8 0.8 0.72 0.53 0.777 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852286 NA NA 0.810465 0.554925 NA 0.768 NA 4.2860016 1223 2 89084193 89084193 A T ncRNA_intronic ANKRD36BP2 NA NA NA ncRNA_intronic ENSG00000230006 NA NA NA NA NA 2p11.2 NA NA NA NA rs7560434 NA NA 0.414 0.398163 0.3807 0.3552 0.4481 0.5356 0.2393 NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31387 NA NA NA NA NA 0.514 NA 4.2859666 1223 16 1605051 1605051 A G UTR3 TMEM204 NM_001256541:c.*24A>G,NM_024600:c.*24A>G NA NA UTR3 ENSG00000131634 ENST00000253934:c.*24A>G,ENST00000566264:c.*24A>G NA NA NA NA 16p13.3 NA Name=BCL3 NA NA rs9932984 0.47 0.47 0.469 0.507588 0.3151 0.5635 0.4164 0.705 0.4458 0.31 0.54 0.41 0.69 0.4019 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109728 NA NA 0.330607 0.618785 NA 0.377 NA 4.2857264 1223 19 49661582 49661582 T C intronic TRPM4 NA NA NA intronic ENSG00000130529 NA NA NA NA NA 19q13.33 NA Name=BAF155,NRSF,Pol2,CCNT2,ZBTB7A_(SC-34508) Name=26 NA rs3760664 0.65 0.65 0.627 0.599441 0.8579 0.3175 0.6715 0.5514 0.638 0.87 0.33 0.74 0.61 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672038 NA NA 0.85638 0.602601 NA 0.674 NA 4.28572 1223 13 103528342 103528342 G A UTR3 BIVM-ERCC5,ERCC5 NM_001204425:c.*89G>A;NM_000123:c.*89G>A NA NA UTR3 ENSG00000134899 ENST00000355739:c.*89G>A NA NA NA NA 13q33.1 NA NA NA NA rs4150390 0.02 0.02 0.017 0.0201677 0.0477 0.001 0.013 0.0045 0.0378 0.05 NA 0.02 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403345 NA NA NA NA NA 0.007 NA 4.2856334 1223 17 45994094 45994094 T C exonic SP2 NA synonymous SNV SP2:NM_003110:exon3:c.T657C:p.L219L exonic ENSG00000167182 NA synonymous SNV ENSG00000167182:ENST00000376741:exon3:c.T657C:p.L219L NA NA 17q21.32 NA NA NA NA rs2228251 0.57 0.57 0.562 0.568091 0.4622 0.7758 0.4813 0.615 0.4611 0.45 0.75 0.48 0.61 0.4824 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116286 NA NA 0.436628 0.585792 NA 0.478 NA 4.2854386 1223 6 3019654 3019654 T C intronic NQO2 NA NA NA intronic ENSG00000124588 NA NA NA NA NA 6p25.2 NA NA Name=4 NA rs4149370 0.76 0.76 0.779 0.758387 0.7147 0.6548 0.7334 0.9319 0.6933 0.73 0.67 0.73 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.219644 NA NA NA NA NA 0.79 NA 4.2853 1223 8 47886113 47886113 T C intergenic LINC00293,LOC100287846 dist=118706;dist=214817 NA NA ncRNA_exonic ENSG00000215179 NA NA NA Score=816;Name=lod=2765 NA 8q11.1 NA NA NA NA rs1827125 0.76 0.76 0.761 0.743011 0.7147 0.8224 0.8473 0.7716 0.5777 0.71 0.8 0.83 0.75 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041286 NA 0.98 NA NA NA 0.768 NA 4.2853 1224 2 118677916 118677916 T C UTR3 CCDC93 NM_019044:c.*3A>G NA NA ncRNA_UTR3 ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs35891278 0.06 0.06 0.056 0.0409345 0.0855 NA 0.072 0.0424 0.0133 0.09 NA 0.08 0.04 0.0571 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.708262 2.708262 NA 0.073953 0.048797 NA 0.029 NA 4.283447 1224 6 166574246 166574246 G A intronic T NA NA NA intronic ENSG00000164458 NA NA NA NA NA 6q27 NA NA NA NA rs3127334 0.8 0.8 0.787 0.797324 0.7167 0.8958 0.7305 0.8517 0.7526 0.7 0.88 0.77 0.86 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511488 NA NA NA NA NA 0.862 CLINSIG=other;CLNDBN=Neural_tube_defects\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000008660.1;CLNDSDB=.;CLNDSDBID=. 4.2833 1224 13 19702018 19702018 T C intergenic LINC00442,RNU6-52P dist=115244;dist=15104 NA NA ncRNA_intronic ENSG00000224778 NA NA NA Score=358;Name=lod=38 NA 13q12.11 NA NA NA NA rs2010130 0.62 0.62 0.602 0.602037 0.7167 0.4573 0.6729 0.5825 0.6094 0.72 0.47 0.69 0.61 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054769 NA NA NA NA NA 0.58 NA 4.2833 1224 14 103840904 103840904 C G intergenic EIF5,MARK3 dist=29543;dist=10797 NA NA ncRNA_exonic ENSG00000243904 NA NA NA Score=801;Name=lod=2389 NA 14q32.32 NA NA NA NA rs11629297 0.49 0.49 0.473 0.440895 0.7167 0.4048 0.5749 0.1641 0.4734 0.72 0.4 0.6 0.18 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.400849 1.400849 NA NA NA NA 0.507 NA 4.2833 1224 1 31907089 31907089 T C UTR3 SERINC2 NM_001199038:c.*43T>C,NM_001199037:c.*43T>C,NM_178865:c.*43T>C,NM_001199039:c.*43T>C,NM_018565:c.*43T>C NA NA UTR3 ENSG00000168528 ENST00000373710:c.*43T>C,ENST00000536859:c.*43T>C,ENST00000373709:c.*43T>C,ENST00000536384:c.*43T>C NA NA NA NA 1p35.2 NA NA NA NA rs141375854 0.01 0.01 0.004 0.00519169 0.0169 NA 0.0115 NA 0.001 0.02 NA 0.01 NA 0.0136 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.084551 NA NA 0.019884 0.003858 NA 0.007 NA 4.2829494 1224 7 64004644 64004644 T G intronic ZNF680 NA NA NA intronic ENSG00000173041 NA NA NA NA NA 7q11.21 NA Name=PU.1 NA NA rs58967958 0.2 0.2 0.181 0.211062 0.2475 0.0833 0.2205 0.1914 0.3252 0.27 0.09 0.23 0.22 0.2294 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564628 NA NA 0.240465 0.200182 ID=COSN168094;OCCURENCE=1(large_intestine) 0.159 NA 4.282635 1224 15 93588264 93588264 G C exonic RGMA NA synonymous SNV RGMA:NM_001166286:exon3:c.C1269G:p.L423L,RGMA:NM_001166283:exon4:c.C1341G:p.L447L,RGMA:NM_001166287:exon4:c.C1269G:p.L423L,RGMA:NM_001166288:exon4:c.C1269G:p.L423L,RGMA:NM_001166289:exon4:c.C1269G:p.L423L,RGMA:NM_020211:exon4:c.C1317G:p.L439L exonic ENSG00000182175 NA synonymous SNV ENSG00000182175:ENST00000542321:exon3:c.C1269G:p.L423L,ENSG00000182175:ENST00000329082:exon4:c.C1317G:p.L439L,ENSG00000182175:ENST00000425933:exon4:c.C1269G:p.L423L,ENSG00000182175:ENST00000543599:exon4:c.C1269G:p.L423L,ENSG00000182175:ENST00000557301:exon4:c.C1341G:p.L447L,ENSG00000182175:ENST00000538818:exon5:c.C990G:p.L330L,ENSG00000182175:ENST00000556658:exon5:c.C990G:p.L330L NA NA 15q26.1 NA NA NA NA rs4299103 0.48 0.48 0.445 0.47504 0.4215 0.7073 0.4856 0.3313 0.4775 0.38 0.73 0.47 0.37 0.5305 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246126 NA NA 0.432096 0.352604 NA 0.406 NA 4.2825706 1224 6 75833876 75833876 C A intronic COL12A1 NA NA NA intronic ENSG00000111799 NA NA NA NA NA 6q13 NA Name=CTCF NA NA rs240722 0.74 0.74 0.75 0.763778 0.7177 0.6974 0.732 0.8434 0.7945 0.71 0.7 0.73 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196035 NA NA NA NA NA 0.725 NA 4.2823 1224 10 100182285 100182285 T C intronic HPS1 NA NA NA intronic ENSG00000107521 NA NA NA Score=393;Name=lod=53 NA 10q24.2 NA NA NA NA rs2296435 0.24 0.24 0.223 0.257588 0.2087 0.3472 0.2752 0.112 0.3998 0.21 0.37 0.26 0.13 0.2696 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.784411 2.784411 NA 0.239651 0.140036 NA 0.152 NA 4.282049 1224 15 42282242 42282242 G A intronic PLA2G4E NA NA NA ncRNA_intronic ENSG00000246740 NA NA NA NA NA 15q15.1 NA NA NA NA rs28538627 0.09 0.09 0.075 0.107628 0.0517 0.2252 0.0821 0.0038 0.2025 0.04 0.22 0.09 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.792353 1.792353 NA NA NA NA 0.065 NA 4.2816333 1224 17 78073562 78073562 A G exonic CCDC40 NA synonymous SNV CCDC40:NM_017950:exon20:c.A3417G:p.P1139P exonic ENSG00000141519 NA synonymous SNV ENSG00000141519:ENST00000397545:exon20:c.A3417G:p.P1139P NA NA 17q25.3 NA NA NA NA rs2304854 0.48 0.48 0.498 0.501597 0.4751 0.4355 0.2911 0.6513 0.544 0.47 0.48 0.28 0.64 0.4633 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091345 NA NA 0.446844 0.58665 NA 0.464 NA 4.2814226 1224 9 13987094 13987094 A C intergenic LINC00583,NFIB dist=41488;dist=94748 NA NA ncRNA_exonic ENSG00000229268 NA NA NA Score=487;Name=lod=127 NA 9p23 NA NA NA NA rs870409 0.59 0.59 0.577 0.599641 0.7187 0.2679 0.6455 0.6989 0.6524 0.72 0.27 0.67 0.7 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230578 NA NA NA NA NA 0.616 NA 4.2813 1224 9 83397674 83397674 G A intergenic TLE4,TLE1 dist=1056018;dist=800924 NA NA ncRNA_exonic ENSG00000234637 NA NA NA Score=690;Name=lod=849 NA 9q21.31 NA NA NA NA rs6559588 0.84 0.84 0.842 0.83726 0.7187 0.9762 0.8098 0.857 0.8088 0.73 0.99 0.79 0.89 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117838 NA NA NA NA NA 0.804 NA 4.2813 1224 14 21190514 21190514 A C intergenic RNASE4,EDDM3A dist=21756;dist=23585 NA NA ncRNA_exonic ENSG00000259144 NA NA NA Score=728;Name=lod=1210 NA 14q11.2 NA NA NA NA rs4982348 0.6 0.6 0.57 0.630192 0.7187 0.372 0.7089 0.6838 0.6769 0.68 0.37 0.7 0.68 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237957 NA NA NA NA NA 0.645 NA 4.2813 1224 1 116260544 116260544 C T intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA Name=CTCF NA NA rs3811001 0.25 0.25 0.239 0.250799 0.2555 0.1825 0.2824 0.2375 0.3119 0.26 0.22 0.31 0.23 0.2359 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682706 NA NA 0.227442 0.224467 NA 0.341 NA 4.281158 1224 4 3577989 3577989 C T upstream FLJ35424 NA NA NA upstream ENSG00000216560 NA NA NA NA NA 4p16.3 NA NA Name=2 NA rs62275434 NA NA NA 0.397165 0.3857 0.4137 0.4107 0.3911 0.3906 NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754095 NA NA NA NA NA 0.326 NA 4.2809666 1224 9 100105735 100105735 T C exonic CCDC180 NA synonymous SNV CCDC180:NM_020893:exon19:c.T2520C:p.C840C exonic ENSG00000197816 NA synonymous SNV ENSG00000197816:ENST00000529487:exon19:c.T2520C:p.C840C,ENSG00000197816:ENST00000357054:exon33:c.T2937C:p.C979C,ENSG00000197816:ENST00000375202:exon33:c.T2520C:p.C840C,ENSG00000197816:ENST00000411667:exon33:c.T2511C:p.C837C NA NA 9q22.33 NA NA NA NA rs1947717 0.56 0.56 0.565 0.59365 0.3936 0.5843 0.6628 0.7458 0.5542 0.4 0.6 0.61 0.71 0.5305 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675703 NA NA 0.462791 0.725148 NA 0.471 NA 4.2797756 1224 8 22995324 22995324 C T UTR3 TNFRSF10D NM_003840:c.*59G>A NA NA UTR3 ENSG00000173530 ENST00000312584:c.*59G>A NA NA NA NA 8p21.3 NA NA NA NA rs78341389 0.04 0.04 0.025 0.0253594 0.0537 NA 0.098 NA 0.0051 0.06 NA 0.09 NA NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222869 NA NA NA NA NA 0.022 NA 4.2796334 1224 19 45422561 45422561 T G UTR3 APOC1 NM_001645:c.*74T>G NA NA UTR3 ENSG00000130208 ENST00000588750:c.*74T>G,ENST00000588802:c.*74T>G,ENST00000252491:c.*74T>G,ENST00000592885:c.*81T>G,ENST00000589781:c.*100T>G,ENST00000592176:c.*326T>G,ENST00000586638:c.*81T>G,ENST00000590334:c.*195T>G NA NA NA NA 19q13.32 NA NA NA NA rs1064725 0.03 0.03 0.021 0.0295527 0.0537 NA 0.0259 NA 0.0777 0.06 NA 0.04 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171295 NA NA NA NA NA 0.022 NA 4.2796334 1224 12 53295551 53295551 T G intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs2035876 0.8 0.8 0.821 0.840455 0.7207 0.8522 0.7622 0.9644 0.8395 0.69 0.86 0.72 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689455 NA NA NA NA NA 0.674 NA 4.2793 1224 7 157151234 157151234 C T intronic DNAJB6 NA NA NA intronic ENSG00000105993 NA NA NA NA NA 7q36.3 NA Name=KAP1,CTCF Name=10 NA rs3802100 0.61 0.61 0.571 0.569089 0.5746 0.746 0.6037 0.4206 0.5573 0.58 0.75 0.63 0.47 0.5734 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419692 NA NA 0.57314 0.458239 NA 0.551 NA 4.27886 1224 8 145584731 145584731 A G UTR3 SLC52A2 NM_001253816:c.*56A>G,NM_001253815:c.*56A>G,NM_024531:c.*56A>G NA NA UTR3 ENSG00000185803 ENST00000530047:c.*56A>G,ENST00000402965:c.*56A>G,ENST00000329994:c.*56A>G,ENST00000532887:c.*56A>G,ENST00000540505:c.*56A>G,ENST00000526752:c.*63A>G NA NA NA NA 8q24.3 NA NA NA NA rs11546261 0.02 0.02 0.014 0.0215655 0.0547 NA 0.0331 0.0023 0.0276 0.05 NA 0.03 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087495 NA NA NA NA NA 0.022 NA 4.2786334 1224 3 12188495 12188495 A G intronic SYN2 NA NA NA ncRNA_intronic ENSG00000157152 NA NA NA NA NA 3p25.2 NA NA NA NA rs11708978 0.04 0.04 0.037 0.0353435 0.0547 0.0248 0.0303 0.0189 0.0521 0.06 0.03 0.04 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.563253 NA NA NA NA NA 0.058 NA 4.2786333 1224 7 43548516 43548516 C T ncRNA_exonic LOC100506895 NA NA NA ncRNA_exonic ENSG00000231638 NA NA NA NA NA 7p13 NA NA NA NA rs2304323 0.11 0.11 NA 0.0996406 0.1899 0.0397 0.1182 0.0129 0.1728 0.2 0.05 0.13 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694498 NA NA 0.198393 0.035388 NA 0.138 NA 4.2783736 1224 16 78082862 78082862 C T intergenic CLEC3A,WWOX dist=16861;dist=50465 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=655;Name=lod=615 NA 16q23.1 NA NA NA NA rs12919818 0.59 0.59 0.553 0.573882 0.7217 0.631 0.6398 0.2542 0.7485 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.461114 NA NA NA NA NA 0.522 NA 4.2783 1224 16 78083477 78083477 C G intergenic CLEC3A,WWOX dist=17476;dist=49850 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=754;Name=lod=1545 NA 16q23.1 NA NA NA NA rs12924402 0.59 0.59 0.537 0.572883 0.7217 0.631 0.6354 0.2542 0.7464 0.74 0.62 0.66 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131273 NA NA NA NA NA 0.522 NA 4.2783 1224 17 37183667 37183667 G C intergenic FBXO47,LRRC37A11P dist=60012;dist=2492 NA NA ncRNA_exonic ENSG00000214553 NA NA NA NA NA 17q12 NA NA Name=29 NA rs6503741 0.73 0.73 0.651 0.748403 0.7217 0.6558 0.879 0.7958 0.7147 0.71 0.6 0.86 0.79 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260673 NA NA NA NA NA 0.638 NA 4.2783 1224 11 119148573 119148573 G T intronic CBL NA NA NA intronic ENSG00000110395 NA NA NA NA NA 11q23.3 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) NA NA rs2510152 0.64 0.64 0.711 0.728634 0.5765 0.879 0.4424 0.8336 0.7914 0.53 0.81 0.48 0.72 0.6011 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695003 NA NA 0.544354 0.781264 NA 0.79 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Rasopathy|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000049226.1|RCV000124135.1;CLNDSDB=MedGen|.;CLNDSDBID=CN166718|. 4.278046 1224 2 113305150 113305150 G C intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA Name=CEBPB Name=84 NA rs11123139 0.49 0.49 0.507 0.493411 0.5785 0.4018 0.5173 0.4947 0.4816 0.57 0.35 0.56 0.49 0.54 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121802 NA NA 0.603605 0.529732 NA 0.587 NA 4.277895 1224 3 54919480 54919480 G A ncRNA_intronic CACNA2D3-AS1 NA NA NA ncRNA_intronic ENSG00000243715 NA NA NA NA NA 3p14.3 NA NA NA NA rs2293662 0.11 0.11 0.108 0.122404 0.1252 0.0625 0.1124 0.1339 0.1728 0.11 0.06 0.14 0.15 0.1262 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14266 NA NA 0.137399 0.127628 NA 0.087 NA 4.2778676 1224 16 78082453 78082453 T C intergenic CLEC3A,WWOX dist=16452;dist=50874 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=505;Name=lod=151 NA 16q23.1 NA NA NA NA rs11646244 0.59 0.59 0.548 0.573682 0.7227 0.631 0.6398 0.2534 0.7474 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351515 NA NA NA NA NA 0.42 NA 4.2773 1224 16 78082681 78082681 G A intergenic CLEC3A,WWOX dist=16680;dist=50646 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=655;Name=lod=615 NA 16q23.1 NA NA NA NA rs12918409 0.59 0.59 0.564 0.573682 0.7227 0.631 0.6398 0.2534 0.7474 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485017 NA NA NA NA NA 0.471 NA 4.2773 1224 16 78082746 78082746 G A intergenic CLEC3A,WWOX dist=16745;dist=50581 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=655;Name=lod=615 NA 16q23.1 NA NA NA NA rs12918547 0.59 0.59 0.556 0.574081 0.7227 0.631 0.6398 0.2542 0.7485 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.197983 NA NA NA NA NA 0.522 NA 4.2773 1224 16 78082760 78082760 C G intergenic CLEC3A,WWOX dist=16759;dist=50567 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=655;Name=lod=615 NA 16q23.1 NA NA NA NA rs12919672 0.59 0.59 0.546 0.573882 0.7227 0.631 0.6398 0.2534 0.7485 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65779 NA NA NA NA NA 0.522 NA 4.2773 1224 16 78083005 78083005 C T intergenic CLEC3A,WWOX dist=17004;dist=50322 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=754;Name=lod=1545 NA 16q23.1 NA NA NA NA rs12920025 0.59 0.59 0.553 0.573882 0.7227 0.631 0.6398 0.2534 0.7485 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195332 NA NA NA NA NA 0.522 NA 4.2773 1224 16 78083115 78083115 T C intergenic CLEC3A,WWOX dist=17114;dist=50212 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=754;Name=lod=1545 NA 16q23.1 NA NA NA NA rs12924772 0.59 0.59 0.554 0.573882 0.7227 0.631 0.6398 0.2534 0.7485 0.74 0.62 0.66 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004876 NA NA NA NA NA 0.514 NA 4.2773 1224 14 106926223 106926223 T C intergenic LINC00226,LINC00221 dist=181257;dist=12232 NA NA exonic ENSG00000232216 NA nonsynonymous SNV ENSG00000232216:ENST00000434710:exon2:c.A319G:p.T107A NA NA 14q32.33 NA NA NA NA rs2467912 0.26 0.26 0.239 NA NA NA NA NA NA 0.27 0.14 0.2 0.41 0.2919 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.35059 NA 1 0.264347 0.404234 NA 0.275 NA 4.2770864 1224 14 77767382 77767382 A G intronic POMT2 NA NA NA intronic ENSG00000009830 NA NA NA NA NA 14q24.3 NA Name=CTCF,ZBTB7A_(SC-34508) NA NA rs2287392 0.3 0.3 0.267 0.295927 0.2187 0.4702 0.366 0.2005 0.2751 0.2 0.48 0.33 0.22 0.2681 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158347 NA NA 0.236279 0.186564 NA 0.188 NA 4.276921 1224 14 100599164 100599164 G A intronic EVL NA NA NA intronic ENSG00000196405 NA NA NA NA NA 14q32.2 NA Name=GATA-2 Name=49 NA rs941897 0.5 0.5 0.507 0.514776 0.5775 0.2391 0.5893 0.5605 0.6196 0.59 0.25 0.61 0.56 0.5632 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308271 NA NA 0.582791 0.571039 ID=COSN164781;OCCURENCE=1(breast) 0.514 NA 4.276509 1224 2 89266057 89266057 C T intergenic MIR4436A,NONE dist=154089;dist=NONE NA NA exonic ENSG00000239855 NA synonymous SNV ENSG00000239855:ENST00000464162:exon2:c.G75A:p.Q25Q NA NA 2p11.2 NA NA NA NA rs112636307 0.03 0.03 0.03 0.0493211 0.0785 0.005 0.0548 0.003 0.1237 0.07 0.0035 0.03 0.002 0.0656 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483617 NA NA 0.079568 0.017755 NA 0.014 NA 4.276332 1224 11 119692871 119692871 T C intergenic PVRL1,TRIM29 dist=93436;dist=289123 NA NA upstream ENSG00000254406 NA NA NA Score=533;Name=lod=196 NA 11q23.3 NA NA NA NA rs11217524 0.15 0.15 0.139 0.138179 0.2237 0.0288 0.1254 0.205 0.0818 0.24 0.02 0.13 0.19 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637083 NA NA NA NA NA 0.138 NA 4.2763 1224 16 78083149 78083149 A C intergenic CLEC3A,WWOX dist=17148;dist=50178 NA NA ncRNA_exonic ENSG00000260731 NA NA NA Score=754;Name=lod=1545 NA 16q23.1 NA NA NA NA rs12920830 0.59 0.59 0.558 0.574681 0.7237 0.631 0.6398 0.2557 0.7485 0.74 0.62 0.66 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252783 NA NA NA NA NA 0.522 NA 4.2763 1224 17 33332629 33332629 G A downstream LIG3 NA NA NA ncRNA_exonic ENSG00000224113 NA NA NA Score=654;Name=lod=608 NA 17q12 NA NA NA NA rs12948362 0.32 0.32 0.294 0.303714 0.4771 0.3085 0.3487 0.112 0.3476 0.48 0.26 0.35 0.12 0.4136 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71837 NA NA NA NA NA 0.304 NA 4.2759666 1224 19 12089947 12089947 C T UTR3 ZNF763 NM_001012753:c.*23C>T NA NA UTR3 ENSG00000197054,ENSG00000267179 ENST00000538752:c.*23C>T,ENST00000545530:c.*23C>T,ENST00000343949:c.*23C>T,ENST00000358987:c.*23C>T;ENST00000590798:c.*23C>T NA NA NA NA 19p13.2 NA NA NA NA rs111486980 0.02 0.02 0.014 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 0.0168 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191667 NA NA 0.017911 0.027538 NA 0.014 NA 4.2757224 1224 10 128821671 128821671 G A intronic DOCK1 NA NA NA ncRNA_intronic ENSG00000223528,ENSG00000232935 NA NA NA NA NA 10q26.2 NA NA NA NA rs7076668 0.03 0.03 0.018 0.019369 0.0577 0.001 0.0288 0.0045 0.0123 0.06 NA 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301964 NA NA NA NA NA 0.014 NA 4.2756333 1224 2 12164189 12164189 C T intergenic MIR4262,TRIB2 dist=187077;dist=692809 NA NA ncRNA_intronic ENSG00000224184 NA NA NA Score=679;Name=lod=768 NA 2p25.1 NA NA NA NA rs4668745 0.58 0.58 0.497 0.567093 0.7247 0.6141 0.6758 0.2103 0.7618 0.73 0.6 0.66 0.25 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944567 NA NA NA NA NA 0.522 NA 4.2753 1224 18 55361778 55361778 C T intronic ATP8B1 NA NA NA ncRNA_intronic ENSG00000267040,ENSG00000267787 NA NA NA NA NA 18q21.31 NA NA NA NA rs319444 0.01 0.01 0.005 0.00638978 0.0199 NA 0.0101 0.0008 0.0041 0.02 NA 0.01 0.002 0.0168 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499668 NA NA 0.021633 0.004095 NA NA NA 4.2750003 1225 6 31382994 31382994 C A UTR3 MICA NM_001177519:c.*235C>A,NM_000247:c.*78C>A NA NA ncRNA_UTR3 ENSG00000204520 NA NA NA NA NA 6p21.33 NA NA NA NA rs1880 0.27 0.27 0.225 0.276358 0.2256 0.2312 0.2939 0.351 0.2618 0.24 0.21 0.33 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457699 NA NA NA NA NA 0.145 NA 4.2744 1225 8 95986927 95986927 A G intergenic TP53INP1,NDUFAF6 dist=25312;dist=50287 NA NA ncRNA_exonic ENSG00000253528 NA NA NA Score=689;Name=lod=842 NA 8q22.1 NA NA NA NA rs10086284 0.69 0.69 0.666 0.672324 0.7256 0.7798 0.7061 0.503 0.7117 0.75 0.75 0.72 0.51 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507047 NA NA NA NA NA 0.638 NA 4.2744 1225 8 15967582 15967582 A C UTR3 MSR1 NM_138715:c.*12T>G,NM_138716:c.*12T>G NA NA UTR3 ENSG00000038945 ENST00000350896:c.*12T>G,ENST00000262101:c.*12T>G,ENST00000445506:c.*12T>G NA NA NA NA 8p22 NA NA NA NA rs12677608 0.05 0.05 0.038 0.0656949 0.0099 0.1319 0.072 0.0129 0.1217 0.01 0.15 0.06 0.01 0.0415 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.007049 NA NA 0.008488 0.019292 NA 0.022 NA 4.2734454 1225 6 162864317 162864317 A G intronic PARK2 NA NA NA intronic ENSG00000185345 NA NA NA NA NA 6q26 NA NA Name=12 NA rs2075923 0.27 0.27 0.267 0.273363 0.2445 0.1806 0.2507 0.4334 0.1984 0.25 0.18 0.25 0.41 0.253 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112597 NA NA 0.229419 0.384703 NA 0.326 NA 4.273081 1225 6 29895250 29895250 C T intergenic HCG4B,HLA-A dist=1822;dist=14997 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA Name=Pol2,c-Myc NA NA rs1655937 0.7 0.7 0.726 0.729034 0.7276 0.6349 0.7911 0.764 0.7362 0.72 0.63 0.73 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059401 NA NA NA NA NA 0.543 NA 4.2724 1225 6 29795636 29795636 G A exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon2:c.G15A:p.A5A exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000360323:exon1:c.G15A:p.A5A,ENSG00000204632:ENST00000376815:exon1:c.G15A:p.A5A,ENSG00000204632:ENST00000376818:exon1:c.G15A:p.A5A,ENSG00000204632:ENST00000478519:exon1:c.G15A:p.A5A,ENSG00000204632:ENST00000376828:exon2:c.G30A:p.A10A,ENSG00000204632:ENST00000428701:exon2:c.G15A:p.A5A NA NA 6p22.1 NA NA NA NA rs1630223 0.5 0.5 0.505 0.544329 0.4324 0.6032 0.4654 0.5083 0.7035 0.42 0.64 0.46 0.5 0.4994 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509456 NA NA 0.462717 0.508934 NA 0.572 NA 4.2721496 1225 19 36673300 36673300 T C UTR3 ZNF565 NM_001042474:c.*68A>G,NM_152477:c.*68A>G NA NA UTR3 ENSG00000196357 ENST00000304116:c.*68A>G,ENST00000355114:c.*68A>G,ENST00000392173:c.*68A>G NA NA NA NA 19q13.12 NA NA NA NA rs16970932 0.07 0.07 0.069 0.0700879 0.0616 NA 0.0447 0.1861 0.0123 0.06 NA 0.05 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190926 NA NA NA NA NA 0.058 NA 4.2717334 1225 18 7015714 7015714 T C intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 Score=804;Name=V$MYCMAX_03 NA NA NA rs603258 0.23 0.23 0.233 0.241414 0.2445 0.0972 0.1412 0.3797 0.271 0.26 0.09 0.16 0.39 0.2371 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257437 NA NA 0.246744 0.322969 NA 0.37 NA 4.271656 1225 2 132182448 132182448 G A intergenic LOC389043,LOC401010 dist=16647;dist=17286 NA NA upstream ENSG00000214077 NA NA NA Score=742;Name=lod=1384 NA 2q21.1 NA NA NA NA rs1880994 0.35 0.35 0.227 0.365415 0.2286 0.754 0.5115 0.1346 0.3139 0.21 0.7 0.4 0.11 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310261 NA NA NA NA NA 0.29 NA 4.2714 1225 22 31583007 31583007 A G intronic RNF185 NA NA NA intronic ENSG00000138942 NA NA NA NA NA 22q12.2 Score=841;Name=V$CEBP_C NA NA NA rs5997902 0.82 0.82 0.852 0.842252 0.7286 0.881 0.7435 0.972 0.8139 0.72 0.88 0.76 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.74642 1.74642 NA NA NA NA 0.826 NA 4.2714 1225 6 29342825 29342825 G A exonic OR12D3 NA synonymous SNV OR12D3:NM_030959:exon1:c.C240T:p.L80L exonic ENSG00000112462 NA synonymous SNV ENSG00000112462:ENST00000396806:exon1:c.C240T:p.L80L NA NA 6p22.1 NA NA NA NA rs3749970 0.32 0.32 0.302 0.286941 0.494 0.255 0.3646 0.0651 0.3517 0.52 0.25 0.36 0.05 0.4234 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.393222 NA NA 0.478405 0.13055 ID=COSM451128;OCCURENCE=1(breast) 0.225 NA 4.2708616 1225 13 99336919 99336919 T C UTR3 SLC15A1 NM_005073:c.*59A>G NA NA UTR3 ENSG00000088386 ENST00000376503:c.*59A>G NA NA NA NA 13q32.3 NA NA NA NA rs7331216 0.09 0.09 0.06 0.102436 0.0626 0.0298 0.1455 0.1687 0.0982 0.07 0.04 0.14 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981969 NA NA NA NA NA 0.094 NA 4.2707334 1225 6 73697308 73697308 G A intronic KCNQ5 NA NA NA ncRNA_exonic ENSG00000232422 NA NA NA NA NA 6q13 NA NA NA NA rs16886069 NA NA NA 0.1875 0.0626 0.247 0.2133 0.2678 0.1278 NA NA NA NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599907 NA NA NA NA NA 0.181 NA 4.2707333 1225 10 115242720 115242720 T A intergenic TCF7L2,HABP2 dist=315284;dist=67870 NA NA ncRNA_exonic ENSG00000230018 NA NA NA Score=644;Name=lod=552 NA 10q25.3 NA NA NA NA rs3758592 0.8 0.8 0.79 0.796326 0.7306 0.8909 0.8473 0.7526 0.7894 0.75 0.89 0.8 0.77 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285803 NA NA NA NA NA 0.761 NA 4.2694 1225 22 22730634 22730634 G A intergenic LOC96610,ZNF280B dist=53310;dist=108138 NA NA exonic ENSG00000211650 NA synonymous SNV ENSG00000211650:ENST00000390296:exon2:c.G129A:p.L43L NA NA 22q11.22 NA Name=MafK_(ab50322) NA NA rs2009587 0.41 0.41 0.328 0.409545 0.4592 0.5575 0.4539 0.1952 0.4642 0.45 0.54 0.4 0.2 0.3854 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040248 NA NA 0.38611 0.197122 NA 0.391 NA 4.26929 1225 4 98893476 98893476 C T exonic STPG2 NA synonymous SNV STPG2:NM_174952:exon7:c.G888A:p.S296S exonic ENSG00000163116 NA synonymous SNV ENSG00000163116:ENST00000522676:exon1:c.G30A:p.S10S,ENSG00000163116:ENST00000295268:exon7:c.G888A:p.S296S NA NA 4q23 NA NA NA NA rs783959 0.41 0.41 0.387 0.409345 0.4751 0.2431 0.5403 0.3714 0.4714 0.47 0.23 0.52 0.42 0.4572 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494868 NA NA 0.465116 0.357921 ID=COSM149717;OCCURENCE=1(stomach),1(prostate) 0.326 NA 4.2692506 1225 11 68840412 68840412 C G exonic TPCN2 NA synonymous SNV TPCN2:NM_139075:exon13:c.C1173G:p.L391L exonic ENSG00000162341 NA synonymous SNV ENSG00000162341:ENST00000294309:exon13:c.C1173G:p.L391L,ENSG00000162341:ENST00000542467:exon13:c.C1173G:p.L391L NA NA 11q13.3 NA NA NA NA rs1466220 0.38 0.38 0.363 0.334465 0.4841 0.2867 0.3271 0.3601 0.2004 0.46 0.28 0.36 0.38 0.414 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28132 NA NA 0.499418 0.388864 NA 0.333 NA 4.2691486 1225 17 48274309 48274309 T C intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA Name=Pol2,CEBPB,c-Jun Name=72 NA rs2075554 0.75 0.75 0.749 0.744609 0.8638 0.6766 0.6873 0.7262 0.7577 0.87 0.65 0.73 0.72 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068168 NA NA 0.867379 0.742775 NA 0.732 NA 4.268821 1225 9 131001692 131001692 G C intronic DNM1 NA NA NA intronic ENSG00000106976 NA NA NA NA NA 9q34.11 NA Name=ZNF263 NA NA rs10987942 0.41 0.41 0.43 0.461661 0.2097 0.4732 0.2406 0.7829 0.4315 0.21 0.48 0.27 0.74 0.3058 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499057 NA NA 0.215814 0.716977 NA 0.42 NA 4.268686 1225 18 43247001 43247001 C G exonic SLC14A2 NA synonymous SNV SLC14A2:NM_007163:exon13:c.C1659G:p.V553V,SLC14A2:NM_001242692:exon14:c.C1659G:p.V553V exonic ENSG00000132874 NA synonymous SNV ENSG00000132874:ENST00000589658:exon2:c.C90G:p.V30V,ENSG00000132874:ENST00000255226:exon13:c.C1659G:p.V553V,ENSG00000132874:ENST00000586448:exon14:c.C1659G:p.V553V Score=490;Name=lod=131 NA 18q12.3 NA NA NA NA rs2156609 0.65 0.65 0.631 0.65016 0.7962 0.4296 0.7464 0.621 0.6984 0.8 0.42 0.77 0.6 0.7684 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898233 NA NA 0.833605 0.628461 ID=COSM148425;OCCURENCE=1(stomach) 0.551 NA 4.2684616 1225 4 68905270 68905270 A G intergenic TMPRSS11GP,TMPRSS11F dist=42113;dist=13646 NA NA ncRNA_exonic ENSG00000227725 NA NA NA Score=518;Name=lod=170 NA 4q13.2 NA NA NA NA rs4860275 0.66 0.66 0.626 0.635783 0.7316 0.8651 0.562 0.3661 0.7178 0.74 0.87 0.62 0.32 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737312 NA NA NA NA NA 0.601 NA 4.2684 1225 10 115242531 115242531 T G intergenic TCF7L2,HABP2 dist=315095;dist=68059 NA NA ncRNA_exonic ENSG00000230018 NA NA NA Score=528;Name=lod=186 NA 10q25.3 NA NA NA NA rs1046528 0.8 0.8 0.792 0.796526 0.7316 0.8919 0.8473 0.7519 0.7894 0.75 0.89 0.8 0.77 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182839 NA NA NA NA NA 0.761 NA 4.2684 1225 15 32971934 32971934 C T intronic SCG5 NA NA NA intronic ENSG00000166922 NA NA NA NA NA 15q13.3 NA NA Name=9 NA rs7177843 0.31 0.31 0.301 0.344249 0.2227 0.5645 0.2925 0.2224 0.4438 0.22 0.54 0.29 0.22 0.2971 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770147 NA NA 0.211908 0.216991 NA 0.29 NA 4.268292 1225 11 68840397 68840397 T C exonic TPCN2 NA synonymous SNV TPCN2:NM_139075:exon13:c.T1158C:p.Y386Y exonic ENSG00000162341 NA synonymous SNV ENSG00000162341:ENST00000294309:exon13:c.T1158C:p.Y386Y,ENSG00000162341:ENST00000542467:exon13:c.T1158C:p.Y386Y NA NA 11q13.3 NA NA NA NA rs1466221 0.38 0.38 0.369 0.338059 0.4851 0.2867 0.3329 0.3699 0.2004 0.46 0.28 0.37 0.38 0.4153 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211667 NA NA 0.498137 0.400227 ID=COSM1162432;OCCURENCE=1(pancreas) 0.29 NA 4.2681296 1225 20 48491258 48491258 T G exonic SLC9A8 NA synonymous SNV SLC9A8:NM_001260491:exon11:c.T1023G:p.L341L,SLC9A8:NM_015266:exon11:c.T975G:p.L325L exonic ENSG00000197818 NA synonymous SNV ENSG00000197818:ENST00000539601:exon9:c.T318G:p.L106L,ENSG00000197818:ENST00000541138:exon9:c.T75G:p.L25L,ENSG00000197818:ENST00000361573:exon11:c.T975G:p.L325L,ENSG00000197818:ENST00000417961:exon11:c.T1023G:p.L341L Score=533;Name=lod=196 NA 20q13.13 NA NA NA NA rs542234 0.81 0.81 0.804 0.822883 0.7952 0.8373 0.8256 0.8033 0.8609 0.79 0.85 0.83 0.78 0.8105 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301027 1.301027 NA 0.792907 0.788924 NA 0.783 NA 4.2680596 1225 1 89729383 89729383 T C intronic GBP5 NA NA NA ncRNA_intronic ENSG00000237568 NA NA NA NA NA 1p22.2 NA NA NA NA rs116350128 0.01 0.01 0.008 0.00798722 0.0239 NA 0.0173 NA 0.0041 0.02 NA 0.02 NA 0.0179 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868341 NA NA 0.023721 0.00522 NA 0.029 NA 4.2678123 1225 13 26434282 26434282 G A intronic ATP8A2 NA NA NA intronic ENSG00000132932 NA NA NA NA NA 13q12.13 NA Name=GATA3_(SC-268) NA NA rs34288901 0.19 0.19 0.183 0.19349 0.2565 0.2014 0.2378 0.0885 0.2311 0.24 0.2 0.23 0.07 0.2234 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52979 NA NA 0.252615 0.10356 NA 0.152 NA 4.267485 1225 4 69727312 69727312 G A intergenic UGT2B10,UGT2A3 dist=29571;dist=66865 NA NA ncRNA_exonic ENSG00000249235 NA NA NA Score=403;Name=lod=58 NA 4q13.2 NA NA NA NA rs13123929 0.58 0.58 0.563 0.586861 0.7326 0.5437 0.5331 0.4153 0.7515 0.72 0.54 0.57 0.42 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300627 1.300627 NA NA NA NA 0.558 NA 4.2674 1225 22 50499957 50499957 G A UTR3 MLC1 NM_139202:c.*55C>T,NM_015166:c.*55C>T NA NA UTR3 ENSG00000100427 ENST00000311597:c.*55C>T,ENST00000395876:c.*55C>T,ENST00000538737:c.*55C>T,ENST00000431262:c.*55C>T,ENST00000535444:c.*55C>T,ENST00000450140:c.*55C>T NA NA NA NA 22q13.33 NA NA NA NA rs41283496 0.02 0.02 0.016 0.0133786 0.0378 NA 0.0331 0.0015 0.0041 0.03 NA 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534747 NA NA 0.028284 0.005058 NA NA NA 4.2672494 1225 15 75650836 75650836 G A exonic MAN2C1 NA synonymous SNV MAN2C1:NM_001256496:exon18:c.C2073T:p.D691D,MAN2C1:NM_001256494:exon20:c.C2421T:p.D807D,MAN2C1:NM_001256495:exon20:c.C2370T:p.D790D,MAN2C1:NM_006715:exon20:c.C2370T:p.D790D exonic ENSG00000140400 NA synonymous SNV ENSG00000140400:ENST00000563622:exon18:c.C2073T:p.D691D,ENSG00000140400:ENST00000267978:exon20:c.C2370T:p.D790D,ENSG00000140400:ENST00000565683:exon20:c.C2421T:p.D807D,ENSG00000140400:ENST00000569482:exon20:c.C2370T:p.D790D NA NA 15q24.2 NA NA NA NA rs1128933 0.36 0.36 0.328 0.366414 0.4662 0.4782 0.4337 0.0393 0.5429 0.48 0.44 0.43 0.04 0.4634 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9587 NA NA 0.470075 0.113109 NA 0.457 NA 4.2669916 1225 17 56636854 56636854 T C exonic TEX14 NA synonymous SNV TEX14:NM_031272:exon30:c.A4227G:p.E1409E,TEX14:NM_001201457:exon31:c.A4365G:p.E1455E,TEX14:NM_198393:exon31:c.A4347G:p.E1449E exonic ENSG00000121101 NA synonymous SNV ENSG00000121101:ENST00000349033:exon30:c.A4227G:p.E1409E,ENSG00000121101:ENST00000240361:exon31:c.A4365G:p.E1455E,ENSG00000121101:ENST00000389934:exon31:c.A4347G:p.E1449E Score=425;Name=lod=71 NA 17q22 NA NA NA NA rs7225128 0.88 0.88 0.877 0.896965 0.7734 1 0.8718 0.9123 0.9151 0.79 1 0.84 0.9 0.8413 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325299 NA NA 0.785 0.900817 ID=COSM1178444;OCCURENCE=1(prostate) 0.826 NA 4.2669666 1225 18 2750204 2750204 C T intronic SMCHD1 NA NA NA ncRNA_intronic ENSG00000266049 NA NA NA NA NA 18p11.32 NA NA NA NA rs2304861 0.16 0.16 0.136 0.173323 0.0666 0.4355 0.1182 0.084 0.1728 0.06 0.39 0.1 0.09 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.817317 NA NA NA NA ID=COSN165566;OCCURENCE=1(breast) 0.123 NA 4.2667333 1225 20 61341286 61341286 A G intronic NTSR1 NA NA NA intronic ENSG00000101188 NA NA NA NA NA 20q13.33 NA NA Name=7 NA rs3746780 0.27 0.27 0.256 0.277955 0.2316 0.0675 0.3112 0.5514 0.1493 0.21 0.08 0.33 0.52 0.2798 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032342 NA NA 0.22195 0.487132 NA 0.225 NA 4.26665 1225 7 140698551 140698551 A T intergenic BRAF,MRPS33 dist=73987;dist=7410 NA NA ncRNA_exonic ENSG00000242703 NA NA NA Score=599;Name=lod=362 NA 7q34 NA NA NA NA rs12672764 0.69 0.69 0.654 0.632388 0.7336 0.8175 0.7983 0.3616 0.5859 0.73 0.84 0.77 0.39 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856527 NA NA NA NA NA 0.703 NA 4.2664 1225 18 9396597 9396597 A G intronic TWSG1 NA NA NA exonic ENSG00000128791 NA synonymous SNV ENSG00000128791:ENST00000581641:exon4:c.A543G:p.P181P NA NA 18p11.22 NA NA NA NA rs2298550 0.28 0.28 0.271 0.262979 0.2744 0.2857 0.2608 0.2027 0.3108 0.29 0.33 0.25 0.21 0.2928 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172179 NA NA NA NA NA 0.21 NA 4.2661333 1225 18 29993180 29993180 C T intronic GAREM NA NA NA ncRNA_exonic ENSG00000262477 NA NA NA NA NA 18q12.1 NA NA NA NA rs11873369 0.05 0.05 0.05 0.0373403 0.0676 0.004 0.0447 0.0484 0.0204 0.07 0.01 0.06 0.05 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.120139 2.120139 NA NA NA NA 0.022 NA 4.2657333 1225 1 157679691 157679691 C T intergenic FCRL3,FCRL2 dist=9044;dist=35832 NA NA downstream ENSG00000231700 NA NA NA Score=728;Name=lod=1209 NA 1q23.1 NA NA NA NA rs17676303 0.18 0.18 0.181 0.157348 0.2346 0.2103 0.1945 0.062 0.1258 0.22 0.19 0.22 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.587345 2.587345 NA NA NA NA 0.217 NA 4.2654 1225 1 157679783 157679783 A G intergenic FCRL3,FCRL2 dist=9136;dist=35740 NA NA downstream ENSG00000231700 NA NA NA Score=728;Name=lod=1209 NA 1q23.1 NA NA NA NA rs17727309 0.18 0.18 0.171 0.157348 0.2346 0.2103 0.1945 0.062 0.1258 0.22 0.19 0.22 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.744841 2.744841 NA NA NA NA 0.217 NA 4.2654 1225 1 157680114 157680114 T C intergenic FCRL3,FCRL2 dist=9467;dist=35409 NA NA downstream ENSG00000231700 NA NA NA Score=728;Name=lod=1209 NA 1q23.1 NA NA NA NA rs17727339 0.18 0.18 0.159 0.157348 0.2346 0.2103 0.1945 0.062 0.1258 0.22 0.19 0.22 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525432 NA NA NA NA NA 0.217 NA 4.2654 1225 1 157680273 157680273 T C intergenic FCRL3,FCRL2 dist=9626;dist=35250 NA NA downstream ENSG00000231700 NA NA NA Score=728;Name=lod=1209 NA 1q23.1 NA NA NA NA rs72708379 0.18 0.18 0.161 0.157348 0.2346 0.2103 0.1945 0.062 0.1258 0.22 0.19 0.22 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05851 NA NA NA NA NA 0.181 NA 4.2654 1225 3 178211391 178211391 C T intergenic KCNMB2-IT1,KCNMB2 dist=36298;dist=42833 NA NA ncRNA_exonic ENSG00000271131 NA NA NA Score=608;Name=lod=396 NA 3q26.32 NA NA NA NA rs9290650 0.76 0.76 0.765 0.794329 0.7346 0.6002 0.7608 0.9735 0.8374 0.74 0.62 0.76 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076695 NA NA NA NA NA 0.79 NA 4.2654 1225 4 68905097 68905097 G A intergenic TMPRSS11GP,TMPRSS11F dist=41940;dist=13819 NA NA ncRNA_exonic ENSG00000227725 NA NA NA Score=518;Name=lod=170 NA 4q13.2 NA NA NA NA rs4860273 0.7 0.7 0.72 0.690495 0.7346 0.8651 0.5865 0.5424 0.7393 0.74 0.87 0.65 0.5 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.515316 NA NA NA NA NA 0.63 NA 4.2654 1225 6 31244331 31244331 C T intergenic HLA-C,HLA-B dist=4418;dist=77318 NA NA ncRNA_exonic ENSG00000214892 NA NA NA Score=383;Name=lod=48 NA 6p21.33 NA NA NA NA rs9264740 0.71 0.71 0.742 0.720647 0.7346 0.7609 0.7061 0.7065 0.6943 0.73 0.72 0.68 0.72 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.747944 2.747944 NA NA NA NA 0.71 NA 4.2654 1226 20 42225114 42225114 G A exonic IFT52 NA synonymous SNV IFT52:NM_016004:exon3:c.G159A:p.V53V exonic ENSG00000101052 NA synonymous SNV ENSG00000101052:ENST00000373030:exon3:c.G159A:p.V53V,ENSG00000101052:ENST00000373039:exon3:c.G159A:p.V53V Score=639;Name=lod=528 NA 20q13.12 NA NA NA NA rs2664519 0.75 0.75 0.742 0.744409 0.826 0.7927 0.7882 0.5915 0.7863 0.82 0.76 0.8 0.58 0.7806 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152407 NA NA 0.795465 0.637767 NA 0.754 NA 4.2646016 1226 17 10319056 10319056 A G intronic MYH8 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs75077369 0.01 0.01 0.008 0.0111821 0.0209 NA 0.0086 NA 0.0297 0.02 NA 0.01 NA 0.0243 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774707 NA NA 0.023721 0.002724 NA 0.007 NA 4.2644123 1226 11 103908735 103908735 G A exonic DDI1 NA synonymous SNV DDI1:NM_001001711:exon1:c.G1185A:p.E395E exonic ENSG00000170967 NA synonymous SNV ENSG00000170967:ENST00000302259:exon1:c.G1185A:p.E395E NA NA 11q22.3 NA NA NA NA rs1052313 0.39 0.39 0.36 0.36881 0.4751 0.3988 0.5807 0.1082 0.4305 0.48 0.4 0.55 0.13 0.4606 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048277 NA NA 0.466566 0.176632 NA 0.348 NA 4.2644006 1226 7 154897906 154897906 G A intergenic HTR5A,INSIG1 dist=18804;dist=191580 NA NA upstream ENSG00000228806 NA NA NA Score=576;Name=lod=291 NA 7q36.2 NA NA NA NA rs1617427 0.23 0.23 0.225 0.229233 0.2356 0.3284 0.1671 0.152 0.2689 0.23 0.35 0.15 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166871 NA NA NA NA NA 0.254 NA 4.2644 1226 8 70041943 70041943 T C intergenic LOC100505718,SULF1 dist=25518;dist=336916 NA NA ncRNA_exonic ENSG00000254332 NA NA NA Score=770;Name=lod=1788 NA 8q13.2 NA NA NA NA rs2433331 0.86 0.86 0.869 0.894369 0.7356 1 0.8213 0.9448 0.9325 0.74 1 0.8 0.93 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533076 NA NA NA NA NA 0.804 NA 4.2644 1226 17 15688159 15688159 T C intergenic CDRT15P2,MEIS3P1 dist=19156;dist=2005 NA NA downstream ENSG00000227018 NA NA NA Score=631;Name=lod=491 NA 17p12 NA NA NA NA rs11867683 0.17 0.17 0.154 0.169529 0.2356 0.1895 0.1945 0.0522 0.2219 0.24 0.19 0.19 0.04 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188365 NA NA NA NA NA 0.145 NA 4.2644 1226 1 10706167 10706167 G A intronic CASZ1 NA NA NA ncRNA_intronic ENSG00000272078 NA NA NA NA NA 1p36.22 NA NA NA NA rs145649674 0.01 0.01 0.005 0.00678914 0.0159 NA 0.013 0.0023 0.0061 0.02 NA 0.01 0.002 0.019 0.035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803378 NA NA 0.034524 0.008459 NA 0.007 NA 4.2639093 1226 20 55918377 55918377 C T ncRNA_intronic MIR5095 NA NA NA intronic ENSG00000054796 NA NA NA NA NA 20q13.31 NA NA NA NA rs6099560 0.03 0.03 0.033 0.0327476 0.0219 0.001 0.0144 0.0847 0.0194 0.02 NA 0.02 0.08 0.0252 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37 NA NA 0.022352 0.08356 NA 0.087 NA 4.2638813 1226 1 248247748 248247748 G A intronic OR2L13 NA NA NA ncRNA_exonic ENSG00000197067 NA NA NA NA NA 1q44 NA NA NA NA rs59550975 NA NA NA 0.139177 0.0696 0.0903 0.0519 0.3427 0.0481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092801 NA NA NA NA NA NA NA 4.2637333 1226 5 153726882 153726882 A G intronic GALNT10 NA NA NA ncRNA_intronic ENSG00000245275 NA NA NA NA NA 5q33.2 NA NA NA NA rs10515707 0.06 0.06 0.062 0.0646965 0.0696 NA 0.0447 0.1157 0.0716 0.07 NA 0.05 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425049 NA NA NA NA NA 0.036 NA 4.2637333 1226 16 30510571 30510571 C T intronic ITGAL NA NA NA ncRNA_intronic ENSG00000261332 NA NA NA NA NA 16p11.2 NA NA Name=2 NA rs1557672 0.37 0.37 0.366 0.27476 0.3807 0.5675 0.2709 0.0976 0.1063 0.39 0.62 0.28 0.1 0.3274 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.340322 3.340322 NA 0.361512 0.140419 NA 0.261 NA 4.2637213 1226 2 219602819 219602819 G A exonic TTLL4 NA synonymous SNV TTLL4:NM_014640:exon3:c.G420A:p.P140P exonic ENSG00000135912 NA synonymous SNV ENSG00000135912:ENST00000258398:exon1:c.G420A:p.P140P,ENSG00000135912:ENST00000437755:exon2:c.G420A:p.P140P,ENSG00000135912:ENST00000392102:exon3:c.G420A:p.P140P,ENSG00000135912:ENST00000442769:exon3:c.G420A:p.P140P NA NA 2q35 NA NA NA NA rs3731876 0.47 0.47 0.501 0.473442 0.4662 0.1409 0.4366 0.8585 0.3292 0.46 0.16 0.43 0.85 0.4607 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.883106 NA NA 0.476047 0.811847 NA 0.616 NA 4.2637196 1226 1 33954352 33954352 A G intronic ZSCAN20 NA NA NA intronic ENSG00000121903 NA NA NA NA NA 1p35.1 NA Name=JunD NA NA rs3795418 0.75 0.75 0.77 0.753794 0.7366 0.7381 0.6254 0.854 0.7434 0.74 0.75 0.65 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936139 NA NA NA NA NA 0.855 NA 4.2634 1226 7 154898033 154898033 C T intergenic HTR5A,INSIG1 dist=18931;dist=191453 NA NA upstream ENSG00000228806 NA NA NA Score=664;Name=lod=666 NA 7q36.2 NA NA NA NA rs1657265 0.23 0.23 0.239 0.230431 0.2366 0.3304 0.1729 0.152 0.2679 0.23 0.35 0.16 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072268 NA NA NA NA NA 0.254 NA 4.2634 1226 8 70041973 70041973 A G intergenic LOC100505718,SULF1 dist=25548;dist=336886 NA NA ncRNA_exonic ENSG00000254332 NA NA NA Score=770;Name=lod=1788 NA 8q13.2 NA NA NA NA rs642372 0.84 0.84 NA 0.906749 0.7366 1 0.8228 0.9902 0.9325 0.7 0.97 0.77 0.96 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686382 NA NA NA NA NA 0.87 NA 4.2634 1226 10 135097196 135097196 T G intronic TUBGCP2 NA NA NA intronic ENSG00000130640 NA NA NA NA NA 10q26.3 NA NA NA NA NA NA NA 0.588 0.63139 0.7366 0.8313 0.6383 0.3805 0.6513 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944752 NA NA NA NA NA NA NA 4.2634 1226 1 229795045 229795045 G C UTR3 URB2 NM_014777:c.*1G>C NA NA UTR3 ENSG00000135763 ENST00000258243:c.*1G>C NA NA NA NA 1q42.13 NA NA NA NA rs41309637 0.01 0.01 0.003 0.00479233 0.0199 NA 0.0029 NA 0.002 0.02 NA 0.01 NA 0.0209 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774429 NA NA 0.029535 0.006128 NA NA NA 4.2629984 1226 3 130424393 130424393 C T intronic PIK3R4 NA NA NA intronic ENSG00000196455 NA NA NA NA NA 3q22.1 NA Name=GATA3_(SC-268) NA NA rs7652761 0.4 0.4 0.395 0.446486 0.2217 0.3671 0.4164 0.7307 0.3967 0.21 0.41 0.38 0.7 0.3069 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.173901 NA NA 0.208488 0.655243 NA 0.377 NA 4.262912 1226 20 55915254 55915254 C G ncRNA_intronic MIR5095 NA NA NA intronic ENSG00000054796 NA NA NA NA NA 20q13.31 NA NA NA NA rs6092461 0.03 0.03 0.031 0.0319489 0.0219 NA 0.0144 0.0832 0.0184 0.02 NA 0.02 0.08 0.0261 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97633 NA NA 0.022442 0.086739 NA 0.087 NA 4.2628913 1226 17 1675138 1675138 C T intronic SERPINF1 NA NA NA UTR5 ENSG00000132386 ENST00000573763:c.-190C>T,ENST00000572048:c.-150C>T NA NA NA NA 17p13.3 NA NA Name=16 NA rs4274475 0.3 0.3 0.264 0.299321 0.3072 0.4087 0.353 0.1188 0.3845 0.32 0.39 0.3 0.14 0.3092 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.294239 1.294239 NA 0.287442 0.152973 NA 0.246 NA 4.2628247 1226 21 46315022 46315022 C T intronic ITGB2 NA NA NA intronic ENSG00000160255 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838725 0.19 0.19 0.198 0.207268 0.2495 0.0903 0.1614 0.2572 0.2495 0.23 0.09 0.19 0.26 0.2351 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.983537 NA NA 0.252674 0.255107 NA 0.109 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=not;CLNACC=RCV000087129.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 4.262726 1226 16 20552075 20552075 G T exonic ACSM2B NA synonymous SNV ACSM2B:NM_001105069:exon13:c.C1530A:p.I510I,ACSM2B:NM_182617:exon14:c.C1530A:p.I510I exonic ENSG00000066813 NA synonymous SNV ENSG00000066813:ENST00000565322:exon12:c.C1293A:p.I431I,ENSG00000066813:ENST00000329697:exon13:c.C1530A:p.I510I,ENSG00000066813:ENST00000565232:exon14:c.C1530A:p.I510I,ENSG00000066813:ENST00000567001:exon14:c.C1530A:p.I510I Score=443;Name=lod=84 NA 16p12.3 NA NA NA NA rs16970280 0.71 0.71 0.677 0.70607 0.7972 0.4187 0.8444 0.8101 0.6697 0.78 0.44 0.83 0.83 0.7775 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80342 NA NA 0.829419 0.786104 NA 0.746 NA 4.2625476 1226 2 78640076 78640076 A G intergenic SNAR-H,REG3G dist=457924;dist=612736 NA NA ncRNA_exonic ENSG00000214429 NA NA NA Score=635;Name=lod=510 NA 2p12 NA NA NA NA rs2018108 0.74 0.74 0.711 0.732228 0.7376 0.7401 0.8329 0.7027 0.6871 0.73 0.71 0.79 0.73 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052083 NA NA NA NA NA 0.826 NA 4.2624 1226 15 42695875 42695875 C T intronic CAPN3 NA NA NA ncRNA_intronic ENSG00000258461 NA NA NA NA NA 15q15.1 NA NA NA NA rs17764849 0.02 0.02 0.028 0.0263578 0.0298 0.006 0.0303 0.0492 0.0102 0.03 NA 0.03 0.04 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396956 NA NA 0.041509 0.041185 NA 0.029 NA 4.2620243 1226 12 64057520 64057520 T C intronic DPY19L2 NA NA NA ncRNA_intronic ENSG00000249753 NA NA NA NA NA 12q14.2 NA NA NA NA rs11532475 0.06 0.06 0.058 0.0854633 0.0119 0.1528 0.0187 0.0961 0.1247 0.01 0.12 0.02 0.08 0.0425 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0623 NA NA 0.017097 0.070132 NA 0.043 NA 4.2618363 1226 22 30125620 30125620 G A UTR3 CABP7 NM_182527:c.*62G>A NA NA UTR3 ENSG00000100314 ENST00000216144:c.*62G>A NA NA NA NA 22q12.2 NA NA NA NA rs5997508 0.09 0.09 0.092 0.103634 0.0716 0.0198 0.111 0.1755 0.1207 0.08 0.02 0.1 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301527 NA NA NA NA NA 0.072 NA 4.2617334 1226 10 91505768 91505768 C T intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA Name=CTCF NA NA rs12414650 0.17 0.17 0.186 0.174321 0.2535 0.0069 0.2061 0.1831 0.2311 0.26 0.01 0.23 0.18 0.2264 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281326 NA NA 0.25877 0.186134 NA 0.232 NA 4.26133 1226 19 12090054 12090054 G A UTR3 ZNF763 NM_001012753:c.*130G>A NA NA UTR3 ENSG00000197054,ENSG00000267179 ENST00000538752:c.*130G>A,ENST00000545530:c.*130G>A,ENST00000343949:c.*130G>A,ENST00000358987:c.*130G>A;ENST00000590798:c.*130G>A NA NA NA NA 19p13.2 NA NA NA NA rs279141 0.17 0.17 0.192 0.195487 0.0726 0.0278 0.0749 0.5764 0.0654 0.06 0.04 0.08 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842557 NA NA NA NA NA 0.232 NA 4.2607334 1226 16 77393207 77393207 G C intronic ADAMTS18 NA NA NA intronic ENSG00000140873 NA NA NA NA NA 16q23.1 NA Name=USF-1,c-Jun,HDAC2_(SC-6296),FOSL2,JunD,FOXA1_(C-20),HNF4A_(H-171),p300,BHLHE40,GR,FOXA1_(SC-101058),FOXA2_(SC-6554),SP1,TCF4 Name=90 NA rs2650907 0.47 0.47 0.498 0.46246 0.5924 0.3323 0.3285 0.4697 0.5481 0.61 0.31 0.39 0.49 0.5468 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014139 NA NA 0.600116 0.491583 NA 0.565 NA 4.260684 1226 1 158848721 158848721 T G intergenic MNDA,PYHIN1 dist=29451;dist=52616 NA NA ncRNA_exonic ENSG00000229849 NA NA NA NA NA 1q23.1 Score=913;Name=V$CEBPA_01 NA NA NA rs2427820 0.8 0.8 0.759 0.782748 0.7396 0.9623 0.8429 0.7027 0.7076 0.74 0.95 0.82 0.7 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367331 NA NA NA NA NA 0.79 NA 4.2604 1226 7 29690705 29690705 C A ncRNA_exonic LOC646762 NA NA NA ncRNA_exonic ENSG00000225264 NA NA NA NA NA 7p14.3 NA NA NA NA rs1641211 0.38 0.38 0.39 0.382788 0.4066 0.0694 0.4164 0.6959 0.2342 0.39 0.06 0.42 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411599 NA NA NA NA NA 0.551 NA 4.2600666 1226 9 21278463 21278463 A G ncRNA_exonic IFNA22P NA NA NA ncRNA_exonic ENSG00000224416 NA NA NA NA NA 9p21.3 NA NA NA NA rs10120675 0.42 0.42 0.389 0.394968 0.4066 0.4692 0.4193 0.357 0.3405 0.4 0.47 0.45 0.35 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139628 NA NA NA NA NA 0.471 NA 4.2600666 1226 11 85725937 85725937 C T exonic PICALM NA synonymous SNV PICALM:NM_001008660:exon5:c.G522A:p.Q174Q,PICALM:NM_001206946:exon5:c.G522A:p.Q174Q,PICALM:NM_001206947:exon5:c.G369A:p.Q123Q,PICALM:NM_007166:exon5:c.G522A:p.Q174Q exonic ENSG00000073921 NA synonymous SNV ENSG00000073921:ENST00000356360:exon5:c.G522A:p.Q174Q,ENSG00000073921:ENST00000393346:exon5:c.G522A:p.Q174Q,ENSG00000073921:ENST00000525162:exon5:c.G369A:p.Q123Q,ENSG00000073921:ENST00000526033:exon5:c.G522A:p.Q174Q,ENSG00000073921:ENST00000528398:exon5:c.G369A:p.Q123Q,ENSG00000073921:ENST00000532317:exon5:c.G522A:p.Q174Q,ENSG00000073921:ENST00000528256:exon6:c.G420A:p.Q140Q,ENSG00000073921:ENST00000531930:exon6:c.G420A:p.Q140Q Score=675;Name=lod=737 NA 11q14.2 NA NA NA NA rs592297 0.79 0.79 0.795 0.788738 0.8171 0.6815 0.7334 0.916 0.7372 0.82 0.66 0.74 0.92 0.7861 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690986 NA NA 0.803725 0.893409 NA 0.899 NA 4.2597416 1226 2 233244843 233244843 G A intronic ALPP NA NA NA ncRNA_intronic ENSG00000224516 NA NA NA NA NA 2q37.1 NA NA NA NA rs55977653 0.1 0.1 0.063 0.0850639 0.0736 0.2173 0.0533 0.025 0.0644 0.08 0.21 0.04 0.03 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545021 NA NA NA NA NA 0.094 NA 4.2597333 1226 6 159192045 159192045 A G intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA Name=Pol2-4H8 NA NA rs1038537 0.52 0.52 0.489 0.521565 0.7406 0.2063 0.4323 0.5635 0.6278 0.75 0.17 0.51 0.57 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133339 NA NA NA NA NA 0.507 NA 4.2594 1226 19 40025197 40025197 T C intergenic EID2B,EID2 dist=1703;dist=4250 NA NA ncRNA_exonic ENSG00000269584 NA NA NA NA NA 19q13.2 NA NA Name=2 NA rs7246072 0.71 0.71 0.7 0.746206 0.7406 0.6528 0.6383 0.8116 0.8364 0.75 0.6 0.69 0.78 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340223 NA NA NA NA NA 0.681 NA 4.2594 1226 13 25541467 25541467 C T ncRNA_intronic TPTE2P1 NA NA NA ncRNA_exonic ENSG00000253771 NA NA NA NA NA 13q12.13 NA NA NA NA rs2483380 0.36 0.36 0.348 0.413139 0.4076 0.3442 0.304 0.3911 0.5971 0.39 0.34 0.33 0.37 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302973 NA NA NA NA NA 0.377 NA 4.2590666 1226 12 45410063 45410063 T C UTR3 DBX2 NM_001004329:c.*6A>G NA NA UTR3 ENSG00000185610 ENST00000332700:c.*6A>G NA NA NA NA 12q12 NA NA NA NA rs77385942 0.02 0.02 0.01 0.00958466 0.0258 NA 0.0274 0.0023 NA 0.03 NA 0.03 NA 0.0213 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076343 NA NA 0.027442 0.007717 NA 0.051 NA 4.2587914 1226 2 233244777 233244777 T C intronic ALPP NA NA NA ncRNA_intronic ENSG00000224516 NA NA NA NA NA 2q37.1 NA NA NA NA rs12620832 0.12 0.12 0.064 0.120607 0.0746 0.2183 0.0648 0.1505 0.0665 0.08 0.22 0.07 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156336 NA NA NA NA NA 0.043 NA 4.2587333 1226 1 242222754 242222754 A G intergenic MAP1LC3C,PLD5 dist=60369;dist=28935 NA NA ncRNA_exonic ENSG00000224625 NA NA NA Score=841;Name=lod=3496 NA 1q43 NA NA NA NA rs871766 0.68 0.68 0.653 0.673323 0.7416 0.7381 0.6643 0.4758 0.8098 0.76 0.75 0.69 0.48 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511635 NA NA NA NA NA 0.696 NA 4.2584 1226 11 49400965 49400965 T C intergenic FOLH1,LOC440040 dist=170743;dist=179115 NA NA ncRNA_exonic ENSG00000255532 NA NA NA Score=527;Name=lod=184 NA 11p11.12 NA NA NA NA rs3974576 0.67 0.67 0.645 0.721046 0.7416 0.7222 0.8156 0.5908 0.8078 0.71 0.69 0.79 0.51 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20341 NA NA NA NA NA 0.609 NA 4.2584 1226 19 10218332 10218332 A G ncRNA_exonic SNORD105 NA NA NA ncRNA_exonic ENSG00000209645 NA NA NA NA NA 19p13.2 NA NA NA NA rs2305789 0.19 0.19 0.179 0.188698 0.1213 0.3423 0.17 0.1135 0.2147 0.11 0.35 0.16 0.13 0.1649 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069687 NA NA 0.122558 0.116205 ID=COSN165717;OCCURENCE=1(breast) 0.08 NA 4.2579086 1226 3 195395379 195395379 T G ncRNA_intronic SDHAP2 NA NA NA ncRNA_intronic ENSG00000215837,ENSG00000242086 NA NA NA NA NA 3q29 NA NA NA NA rs73216381 NA NA 0.341 NA NA NA NA NA NA NA NA NA NA 0.4088 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14062 NA NA NA NA NA 0.109 NA 4.2578666 1226 15 75094881 75094881 C T UTR3 CSK NM_004383:c.*27C>T,NM_001127190:c.*27C>T NA NA UTR3 ENSG00000103653 ENST00000220003:c.*27C>T,ENST00000439220:c.*27C>T,ENST00000567571:c.*27C>T,ENST00000309470:c.*27C>T NA NA NA NA 15q24.1 NA NA NA NA rs11553762 0.03 0.03 0.022 0.0313498 0.0219 0.0774 0.0231 0.0008 0.0409 0.03 0.07 0.03 0.002 0.0345 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344069 NA NA 0.019088 0.005234 NA 0.022 NA 4.2578454 1226 3 132345723 132345723 T C ncRNA_intronic NPHP3-ACAD11 NA NA NA intronic ENSG00000113971,ENSG00000240303 NA NA NA NA NA 3q22.1 NA NA NA NA rs78240150 0.04 0.04 0.042 0.0389377 0.0755 NA 0.0562 0.003 0.0777 0.08 NA 0.06 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527602 1.527602 NA NA NA NA 0.036 NA 4.2578333 1226 17 39779160 39779160 G C intronic KRT17 NA NA NA intronic ENSG00000128422,ENSG00000173801 NA NA NA NA NA 17q21.2 NA NA Name=3 NA rs9916519 0.33 0.33 0.349 NA NA NA NA NA NA 0.37 0.0035 0.3 0.66 0.3443 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108081 NA NA 0.398 0.64503 NA 0.413 NA 4.2577 1226 8 125154630 125154630 G A intergenic FER1L6,TMEM65 dist=22328;dist=168529 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=632;Name=lod=494 NA 8q24.13 NA NA NA NA rs4871463 0.58 0.58 0.582 0.549521 0.7425 0.3839 0.5101 0.5189 0.591 0.74 0.42 0.57 0.51 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203196 NA NA NA NA NA 0.652 NA 4.2575 1226 22 22707473 22707473 C G intergenic LOC96610,ZNF280B dist=30149;dist=131299 NA NA exonic ENSG00000211647 NA nonsynonymous SNV ENSG00000211647:ENST00000390293:exon2:c.C61G:p.P21A NA NA 22q11.22 NA NA NA NA rs74549497 0.17 0.17 0.149 0.195887 0.2217 0.2024 0.1585 0.1785 0.2127 0.2 0.17 0.13 0.16 0.2007 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467527 NA 0.8 0.153455 0.148662 NA 0.051 NA 4.2574784 1226 2 233244703 233244703 T C intronic ALPP NA NA NA ncRNA_intronic ENSG00000224516 NA NA NA NA NA 2q37.1 NA NA NA NA rs12620827 0.09 0.09 0.052 0.0890575 0.0765 0.2173 0.0533 0.0378 0.0644 0.08 0.19 0.05 0.03 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223783 NA NA NA NA NA 0.138 NA 4.2568333 1226 5 178409827 178409827 C T intronic GRM6 NA NA NA ncRNA_intronic ENSG00000254035 NA NA NA NA NA 5q35.3 NA NA NA NA rs17078865 0.12 0.12 0.125 0.113219 0.0765 0.1161 0.0663 0.2186 0.0389 0.07 0.11 0.08 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761522 NA NA NA NA NA 0.123 NA 4.2568333 1226 22 51015557 51015557 C T ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA NA NA rs3752393 0.23 0.23 0.202 0.253594 0.0765 0.4891 0.2579 0.1558 0.3221 0.08 0.5 0.21 0.16 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374964 NA NA NA NA NA 0.232 NA 4.2568333 1226 16 30410445 30410445 C T UTR3 ZNF48 NM_001214906:c.*17C>T,NM_001214907:c.*17C>T,NM_001214909:c.*17C>T,NM_152652:c.*17C>T NA NA UTR3 ENSG00000180035 ENST00000320159:c.*17C>T NA NA Score=343;Name=lod=33 NA 16p11.2 NA NA Name=3 NA rs4788413 0.82 0.82 0.811 0.81869 0.672 0.9127 0.7939 0.9349 0.7331 0.69 0.91 0.79 0.92 0.7295 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678416 NA NA 0.675006 0.893753 NA 0.725 NA 4.2568274 1226 2 17466075 17466075 A G intergenic FAM49A,RAD51AP2 dist=618941;dist=225911 NA NA ncRNA_exonic ENSG00000214843 NA NA NA Score=682;Name=lod=786 NA 2p24.2 NA NA NA NA rs10208884 0.61 0.61 0.63 0.638379 0.7435 0.124 0.5836 0.9486 0.68 0.74 0.13 0.64 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745121 NA NA NA NA NA 0.652 NA 4.2565 1226 8 125154295 125154295 C A intergenic FER1L6,TMEM65 dist=21993;dist=168864 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=626;Name=lod=468 NA 8q24.13 NA NA NA NA rs13251319 0.59 0.59 0.591 0.576877 0.7435 0.3849 0.5216 0.6142 0.592 0.74 0.42 0.58 0.59 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563819 NA NA NA NA NA 0.688 NA 4.2565 1226 8 125154360 125154360 C T intergenic FER1L6,TMEM65 dist=22058;dist=168799 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=626;Name=lod=468 NA 8q24.13 NA NA NA NA rs13251598 0.59 0.59 0.611 0.576478 0.7435 0.3839 0.5216 0.6142 0.591 0.74 0.42 0.58 0.59 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170248 NA NA NA NA NA 0.688 NA 4.2565 1226 8 125154459 125154459 G A intergenic FER1L6,TMEM65 dist=22157;dist=168700 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=514;Name=lod=163 NA 8q24.13 NA NA NA NA rs13252427 0.6 0.6 0.601 0.576877 0.7435 0.3839 0.5216 0.6157 0.591 0.74 0.42 0.58 0.59 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934829 NA NA NA NA NA 0.696 NA 4.2565 1226 8 125155194 125155194 C T intergenic FER1L6,TMEM65 dist=22892;dist=167965 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=637;Name=lod=518 NA 8q24.13 NA NA NA NA rs4437631 0.6 0.6 0.6 0.582867 0.7435 0.3839 0.5259 0.6362 0.591 0.74 0.42 0.58 0.61 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460785 NA NA NA NA NA 0.688 NA 4.2565 1226 8 125155412 125155412 G A intergenic FER1L6,TMEM65 dist=23110;dist=167747 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=533;Name=lod=196 NA 8q24.13 NA NA NA NA rs7010277 0.59 0.59 0.6 0.577276 0.7435 0.3839 0.5216 0.6142 0.5951 0.74 0.42 0.58 0.59 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825198 NA NA NA NA NA 0.688 NA 4.2565 1226 8 125155635 125155635 G A intergenic FER1L6,TMEM65 dist=23333;dist=167524 NA NA ncRNA_exonic ENSG00000250727 NA NA NA Score=431;Name=lod=75 NA 8q24.13 NA NA NA NA rs4454257 0.59 0.59 0.586 0.577276 0.7435 0.3839 0.5216 0.6142 0.5951 0.74 0.42 0.58 0.59 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522187 NA NA NA NA NA 0.688 NA 4.2565 1226 2 89309762 89309762 T G intergenic MIR4436A,NONE dist=197794;dist=NONE NA NA exonic ENSG00000241755 NA nonsynonymous SNV ENSG00000241755:ENST00000493819:exon2:c.A68C:p.D23A NA NA 2p11.2 NA NA NA NA rs77800356 0.24 0.24 0.21 0.290935 0.166 0.4117 0.2911 0.2648 0.3303 0.14 0.41 0.22 0.22 0.2303 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155983 NA 0.1 0.180931 0.262936 ID=COSN166178;OCCURENCE=1(NS) 0.101 NA 4.2561024 1226 15 42041712 42041712 G A exonic MGA NA synonymous SNV MGA:NM_001080541:exon16:c.G5280A:p.K1760K,MGA:NM_001164273:exon17:c.G5907A:p.K1969K exonic ENSG00000174197 NA synonymous SNV ENSG00000174197:ENST00000566586:exon15:c.G5280A:p.K1760K,ENSG00000174197:ENST00000545763:exon16:c.G5280A:p.K1760K,ENSG00000174197:ENST00000570161:exon16:c.G5907A:p.K1969K,ENSG00000174197:ENST00000219905:exon17:c.G5907A:p.K1969K,ENSG00000174197:ENST00000389936:exon18:c.G5790A:p.K1930K Score=617;Name=lod=430 NA 15q15.1 NA NA NA NA rs2695163 0.73 0.73 0.705 0.700879 0.8161 0.8909 0.8055 0.3699 0.7597 0.82 0.88 0.79 0.38 0.784 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027832 NA NA 0.810719 0.449465 NA 0.616 NA 4.2558476 1226 11 116718366 116718366 C G intronic SIK3 NA NA NA ncRNA_intronic ENSG00000235910 NA NA NA NA NA 11q23.3 NA NA NA NA rs628418 0.07 0.07 0.058 0.0752796 0.0209 0.0794 0.0533 0.1536 0.0368 0.02 0.07 0.05 0.17 0.0362 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398245 NA NA 0.020387 0.150159 NA 0.08 NA 4.2558463 1226 12 85388985 85388985 A C intergenic SLC6A15,TSPAN19 dist=82377;dist=19109 NA NA intergenic ENSG00000258073,ENSG00000231738 dist=55538;dist=19109 NA NA NA NA 12q21.31 NA NA Name=4 NA rs73180533 0.04 0.04 0.035 0.0405351 0.0775 0.001 0.0432 0.0151 0.0757 0.08 0.0017 0.06 0.02 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283876 NA NA NA NA NA 0.094 NA 4.2558334 1226 1 95367649 95367649 T C intronic CNN3 NA NA NA intronic ENSG00000117519 NA NA NA NA NA 1p21.3 NA Name=KAP1,CEBPB Name=19 NA rs859058 0.49 0.49 0.449 0.441094 0.6034 0.4196 0.513 0.2784 0.4652 0.6 0.45 0.56 0.32 0.5402 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686322 NA NA 0.600581 0.333409 NA 0.428 NA 4.255819 1226 19 41313202 41313202 C A ncRNA_intronic RAB4B-EGLN2 NA NA NA intronic ENSG00000171570,ENSG00000268797,ENSG00000269858 NA NA NA NA NA 19q13.2 NA Name=Pol2-4H8 NA NA rs3736329 0.3 0.3 0.245 0.296526 0.3628 0.3423 0.4914 0.0234 0.4121 0.37 0.36 0.43 0.04 0.3462 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656325 NA NA 0.369186 0.07399 NA 0.29 NA 4.2551473 1227 12 21716055 21716055 A C intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA Name=SP1,TCF4,GR,FOXA2_(SC-6554),FOXA1_(SC-101058),FOXA1_(C-20),FOSL2,HDAC2_(SC-6296) NA NA rs1473422 0.73 0.73 0.73 0.72504 0.7455 0.7629 0.7435 0.6104 0.8067 0.76 0.77 0.73 0.64 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731591 NA NA NA NA NA 0.601 NA 4.2545 1227 12 21716098 21716098 T C intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA Name=GR,FOXA2_(SC-6554),FOXA1_(SC-101058),SP1,TCF4,FOXA1_(C-20),HDAC2_(SC-6296) NA NA rs1473423 0.73 0.73 0.714 0.72504 0.7455 0.7629 0.7435 0.6104 0.8067 0.76 0.77 0.73 0.64 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.665657 NA NA NA NA NA 0.587 NA 4.2545 1227 17 48016501 48016501 T C intergenic FLJ45513,DLX4 dist=90302;dist=30061 NA NA ncRNA_exonic ENSG00000249176 NA NA NA Score=659;Name=lod=634 NA 17q21.33 NA NA NA NA rs182109 0.61 0.61 0.62 0.589657 0.7455 0.38 0.5749 0.6611 0.5593 0.75 0.42 0.62 0.62 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.237154 NA NA NA NA NA 0.638 NA 4.2545 1227 9 4544721 4544721 A T intronic SLC1A1 NA NA NA intronic ENSG00000106688 NA NA NA Score=640;Name=lod=534 NA 9p24.2 NA NA NA NA rs45518336 0.22 0.22 0.189 0.222244 0.2416 0.2341 0.1686 0.1415 0.3374 0.25 0.23 0.19 0.18 0.2512 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.825153 1.825153 NA 0.252791 0.16069 NA 0.145 NA 4.254409 1227 7 142326607 142326607 C T intergenic LOC730441,MTRNR2L6 dist=354539;dist=47524 NA NA exonic ENSG00000211746 NA nonsynonymous SNV ENSG00000211746:ENST00000390393:exon1:c.C37T:p.L13F Score=309;Name=lod=24 NA 7q34 NA NA NA NA rs17260 0.48 0.48 0.435 0.425919 0.5487 0.6796 0.3184 0.1551 0.4806 0.56 0.67 0.38 0.19 0.4969 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.367201 2.367201 0.55 0.533398 0.192431 NA 0.406 NA 4.2543354 1227 7 107592403 107592403 G A intronic LAMB1 NA NA NA intronic ENSG00000091136 NA NA NA NA NA 7q31.1 NA Name=ERalpha_a,AP-2alpha,c-Myc,AP-2gamma,CEBPB NA NA rs2072210 0.38 0.38 0.385 0.391773 0.2237 0.4772 0.2795 0.5794 0.3027 0.22 0.5 0.25 0.59 0.2937 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104355 NA NA 0.228658 0.508636 NA 0.442 NA 4.253942 1227 19 21838785 21838785 C T intergenic ZNF429,ZNF100 dist=117706;dist=68058 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA Name=KAP1,ZNF274 NA NA rs10422946 0.64 0.64 0.609 0.624002 0.7465 0.7202 0.7233 0.3601 0.6851 0.73 0.7 0.73 0.38 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420314 NA NA NA NA NA 0.725 NA 4.2535 1227 2 89292401 89292401 T C intergenic MIR4436A,NONE dist=180433;dist=NONE NA NA UTR5 ENSG00000240671 ENST00000495489:c.-4A>G NA NA NA NA 2p11.2 NA Name=Pol2 NA NA rs143871003 0.28 0.28 0.2 0.270367 0.168 0.4097 0.2738 0.1936 0.3333 0.16 0.46 0.25 0.27 0.2256 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173126 NA NA 0.186784 0.188947 ID=COSN166173;OCCURENCE=1(breast) 0.065 NA 4.2529494 1227 19 53321259 53321259 G A UTR5 ZNF28 NM_006969:c.-48C>T NA NA UTR5 ENSG00000198538 ENST00000457749:c.-48C>T,ENST00000414252:c.-16321C>T,ENST00000391783:c.-16321C>T,ENST00000596559:c.-48C>T,ENST00000594602:c.-48C>T NA NA NA NA 19q13.41 NA NA NA NA rs112424230 0.05 0.05 0.048 0.0547125 0.0398 0.004 0.0504 0.1331 0.0194 0.05 0.0035 0.06 0.11 0.0412 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.840506 NA NA NA NA NA 0.065 NA 4.2523334 1227 17 73488794 73488794 C T exonic KIAA0195 NA synonymous SNV KIAA0195:NM_014738:exon15:c.C1836T:p.I612I exonic ENSG00000177728 NA synonymous SNV ENSG00000177728:ENST00000580918:exon4:c.C720T:p.I240I,ENSG00000177728:ENST00000579208:exon7:c.C789T:p.I263I,ENSG00000177728:ENST00000375248:exon14:c.C1866T:p.I622I,ENSG00000177728:ENST00000314256:exon15:c.C1836T:p.I612I Score=548;Name=lod=225 NA 17q25.1 NA NA NA NA rs4078259 0.65 0.65 0.646 0.635783 0.8151 0.4673 0.5706 0.5257 0.82 0.84 0.47 0.64 0.59 0.7554 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318724 1.318724 NA 0.844302 0.564004 NA 0.775 NA 4.2518646 1227 16 56667785 56667785 T C UTR3 MT1M NM_176870:c.*31T>C NA NA UTR3 ENSG00000205364 ENST00000379818:c.*31T>C NA NA NA NA 16q12.2 NA NA NA NA rs9936741 0.09 0.09 0.083 0.0884585 0.0229 0.1052 0.0432 0.1997 0.0204 0.03 0.09 0.04 0.2 0.0387 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798042 NA NA 0.019884 0.140582 NA 0.101 NA 4.2518494 1227 2 7179961 7179961 C T UTR3 RNF144A NM_014746:c.*70C>T NA NA UTR3 ENSG00000151692 ENST00000320892:c.*70C>T NA NA NA NA 2p25.1 NA NA NA NA rs72783732 0.04 0.04 0.04 0.0593051 0.0815 0.003 0.0432 0.0363 0.137 0.08 0.0017 0.04 0.03 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371546 NA NA NA NA NA 0.116 NA 4.2518334 1227 9 100849465 100849465 G A UTR3 TRIM14 NM_014788:c.*287C>T NA NA UTR3 ENSG00000106785 ENST00000341469:c.*287C>T,ENST00000538344:c.*287C>T NA NA NA NA 9q22.33 NA NA NA NA rs10984980 0.11 0.11 0.085 0.086861 0.0815 0.251 0.0548 0.0045 0.0573 0.09 0.26 0.07 0.0041 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246816 NA NA NA NA NA 0.029 NA 4.2518334 1227 16 70287177 70287177 A G exonic AARS NA synonymous SNV AARS:NM_001605:exon20:c.T2715C:p.V905V exonic ENSG00000090861 NA synonymous SNV ENSG00000090861:ENST00000261772:exon20:c.T2715C:p.V905V Score=483;Name=lod=123 NA 16q22.1 NA NA NA NA rs4081753 0.88 0.88 0.874 0.88119 0.7972 0.9663 0.7795 0.9894 0.8057 0.78 0.96 0.81 0.98 0.8241 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513173 NA NA 0.793721 0.957689 ID=COSM435653;OCCURENCE=1(breast) 0.833 NA 4.2516456 1227 13 19713615 19713615 A C intergenic LINC00442,RNU6-52P dist=126841;dist=3507 NA NA ncRNA_exonic ENSG00000224778 NA NA NA Score=393;Name=lod=53 NA 13q12.11 NA NA NA NA rs9511772 0.7 0.7 0.703 0.68151 0.7485 0.5962 0.6988 0.6921 0.6738 0.75 0.59 0.72 0.72 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658152 NA NA NA NA NA 0.71 NA 4.2515 1227 13 19713634 19713634 G A intergenic LINC00442,RNU6-52P dist=126860;dist=3488 NA NA ncRNA_exonic ENSG00000224778 NA NA NA Score=393;Name=lod=53 NA 13q12.11 NA NA NA NA rs9511773 0.7 0.7 0.7 0.68151 0.7485 0.5962 0.6988 0.6921 0.6738 0.75 0.59 0.72 0.72 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654165 NA NA NA NA NA 0.71 NA 4.2515 1227 13 19713714 19713714 C T intergenic LINC00442,RNU6-52P dist=126940;dist=3408 NA NA ncRNA_exonic ENSG00000224778 NA NA NA Score=393;Name=lod=53 NA 13q12.11 NA NA NA NA rs9511774 0.7 0.7 0.709 0.68151 0.7485 0.5962 0.6988 0.6921 0.6738 0.75 0.59 0.72 0.72 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.380112 NA NA NA NA NA 0.71 NA 4.2515 1227 19 57802024 57802024 G A intronic ZNF460 NA NA NA intronic ENSG00000197714 NA NA NA NA NA 19q13.43 NA NA Name=3 NA rs45619736 0.2 0.2 0.172 0.186701 0.2535 0.1657 0.3084 0.0983 0.1728 0.26 0.16 0.28 0.09 0.2482 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673062 NA NA 0.246905 0.1196 NA 0.152 NA 4.251395 1227 5 135392507 135392507 G A intronic TGFBI NA NA NA intronic ENSG00000120708 NA NA NA NA NA 5q31.1 NA NA Name=3 NA rs2072239 0.18 0.18 0.163 0.195288 0.2256 0.1984 0.2983 0.0106 0.3374 0.23 0.22 0.26 0.01 0.2836 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98034 NA NA 0.239447 0.04784 NA 0.123 NA 4.251353 1227 3 129821465 129821465 C T ncRNA_intronic FAM86HP NA NA NA ncRNA_intronic ENSG00000251287,ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs75630148 0.26 0.26 0.156 0.265575 0.4155 0.1835 0.3487 0.1021 0.3579 0.38 0.16 0.38 0.09 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.569227 NA NA NA NA NA 0.087 NA 4.2511666 1227 6 11306381 11306381 T C UTR5 NEDD9 NM_001142393:c.-145A>G NA NA UTR5 ENSG00000111859 ENST00000448183:c.-145A>G,ENST00000504387:c.-145A>G,ENST00000513989:c.-92427A>G,ENST00000397378:c.-145A>G,ENST00000508546:c.-56950A>G NA NA NA NA 6p24.2 NA NA NA NA rs16871239 0.07 0.07 0.058 0.0589058 0.0825 NA 0.147 0.0628 0.0276 0.08 NA 0.15 0.08 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.505016 1.505016 NA NA NA NA 0.109 NA 4.2508334 1227 19 35616086 35616086 C T UTR3 LGI4 NM_139284:c.*11G>A NA NA UTR3 ENSG00000153902 ENST00000392225:c.*217G>A,ENST00000310123:c.*11G>A,ENST00000587780:c.*986G>A NA NA NA NA 19q13.12 NA Name=Pol2 NA NA rs11084800 0.31 0.31 0.309 0.360024 0.3698 0.2669 0.2493 0.3132 0.5879 0.38 0.24 0.23 0.34 0.3565 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579026 NA NA 0.356395 0.331139 NA 0.362 NA 4.2506384 1227 19 19023853 19023853 T C exonic COPE NA synonymous SNV COPE:NM_007263:exon2:c.A129G:p.L43L,COPE:NM_199442:exon2:c.A129G:p.L43L,COPE:NM_199444:exon2:c.A129G:p.L43L exonic ENSG00000105669 NA synonymous SNV ENSG00000105669:ENST00000262812:exon2:c.A129G:p.L43L,ENSG00000105669:ENST00000349893:exon2:c.A129G:p.L43L,ENSG00000105669:ENST00000351079:exon2:c.A129G:p.L43L,ENSG00000105669:ENST00000593827:exon2:c.A129G:p.L43L,ENSG00000105669:ENST00000600932:exon2:c.A129G:p.L43L NA NA 19p13.11 NA NA NA NA rs3177137 0.38 0.38 0.358 0.35004 0.4871 0.1925 0.5836 0.3222 0.2434 0.47 0.19 0.58 0.33 0.4445 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607467 NA NA 0.484651 0.361779 ID=COSM1178458;OCCURENCE=1(prostate) 0.333 NA 4.2504156 1227 5 43505993 43505993 A G exonic C5orf34 NA synonymous SNV C5orf34:NM_198566:exon4:c.T789C:p.N263N exonic ENSG00000172244 NA synonymous SNV ENSG00000172244:ENST00000509489:exon2:c.T447C:p.N149N,ENSG00000172244:ENST00000306862:exon4:c.T789C:p.N263N NA NA 5p12 NA NA NA NA rs7710628 0.4 0.4 0.407 0.401957 0.503 0.0893 0.3818 0.6271 0.3303 0.48 0.09 0.43 0.63 0.4254 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.309421 NA NA 0.487907 0.590785 NA 0.543 NA 4.2503596 1227 X 48163148 48163148 A G ncRNA_intronic SSX9 NA NA NA intronic ENSG00000204648 NA NA NA NA NA Xp11.23 NA NA NA NA rs149559713 0.05 0.05 0.03577 NA NA NA NA NA NA 0.03 0.08 0.11 0.01 0.0425 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.625717 NA NA 0.040583 0.008605 ID=COSN168738;OCCURENCE=1(large_intestine) NA NA 4.2502503 1227 3 63466382 63466382 G T ncRNA_intronic SYNPR-AS1 NA NA NA ncRNA_intronic ENSG00000241359 NA NA NA NA NA 3p14.2 NA NA NA NA rs6772726 0.41 0.41 0.387 0.419928 0.4165 0.4683 0.4352 0.4153 0.3691 0.42 0.45 0.4 0.37 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.16746 NA NA NA NA NA 0.377 NA 4.2501666 1227 3 129822494 129822494 C T ncRNA_intronic FAM86HP NA NA NA ncRNA_intronic ENSG00000251287,ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs9713334 0.28 0.28 0.202 0.288139 0.4165 0.248 0.3559 0.1362 0.3548 0.39 0.21 0.38 0.13 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323406 NA NA NA NA NA NA NA 4.2501666 1227 3 129826002 129826002 G T ncRNA_intronic FAM86HP NA NA NA ncRNA_intronic ENSG00000251287,ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs7428346 0.3 0.3 0.255 0.306909 0.4165 0.248 0.3602 0.2035 0.3569 0.4 0.22 0.39 0.18 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059656 NA NA NA NA NA 0.29 NA 4.2501666 1227 14 64898459 64898459 A G intronic MTHFD1 NA NA NA ncRNA_intronic ENSG00000258824 NA NA NA NA NA 14q23.3 NA NA NA NA rs60806768 0.05 0.05 0.054 0.0593051 0.0229 0.0139 0.0288 0.1747 0.0092 0.02 0.01 0.02 0.15 0.0358 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574244 NA NA 0.024767 0.1532 NA 0.072 NA 4.2498663 1227 14 64898463 64898463 G A intronic MTHFD1 NA NA NA ncRNA_intronic ENSG00000258824 NA NA NA NA NA 14q23.3 NA NA NA NA rs59770063 0.05 0.05 0.054 0.0593051 0.0229 0.0139 0.0288 0.1747 0.0092 0.02 0.01 0.02 0.15 0.0358 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35096 NA NA 0.024767 0.1532 NA 0.072 NA 4.2498663 1227 22 36007075 36007075 C T exonic MB NA synonymous SNV MB:NM_005368:exon2:c.G174A:p.A58A,MB:NM_203377:exon3:c.G174A:p.A58A,MB:NM_203378:exon3:c.G174A:p.A58A exonic ENSG00000198125 NA synonymous SNV ENSG00000198125:ENST00000397326:exon2:c.G174A:p.A58A,ENSG00000198125:ENST00000401702:exon2:c.G9A:p.A3A,ENSG00000198125:ENST00000442617:exon2:c.G9A:p.A3A,ENSG00000198125:ENST00000359787:exon3:c.G174A:p.A58A,ENSG00000198125:ENST00000397328:exon3:c.G174A:p.A58A,ENSG00000198125:ENST00000406324:exon3:c.G174A:p.A58A,ENSG00000198125:ENST00000443033:exon3:c.G174A:p.A58A,ENSG00000198125:ENST00000451685:exon3:c.G174A:p.A58A,ENSG00000198125:ENST00000419229:exon4:c.G174A:p.A58A,ENSG00000198125:ENST00000447607:exon4:c.G174A:p.A58A NA NA 22q12.3 NA NA NA NA rs7293 0.53 0.53 0.528 0.53095 0.4483 0.747 0.4712 0.4501 0.545 0.44 0.73 0.46 0.48 0.5019 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818377 NA NA 0.466977 0.448025 ID=COSM1416001,COSM1416000;OCCURENCE=1(large_intestine) 0.457 NA 4.2494896 1227 11 73106088 73106088 C G intronic RELT NA NA NA intronic ENSG00000054967 NA NA NA NA NA 11q13.4 NA NA Name=2 NA rs28641751 0.28 0.28 0.264 0.28774 0.2435 0.0397 0.183 0.6914 0.1176 0.25 0.04 0.18 0.66 0.2551 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122528 NA NA 0.251922 0.590909 NA 0.355 NA 4.249478 1227 3 129822492 129822492 G A ncRNA_intronic FAM86HP NA NA NA ncRNA_intronic ENSG00000251287,ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs9713340 0.29 0.29 0.224 0.302915 0.4175 0.248 0.3588 0.1899 0.3548 0.39 0.2 0.38 0.19 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54106 NA NA NA NA NA 0.022 NA 4.2491666 1227 3 129822552 129822552 G A ncRNA_intronic FAM86HP NA NA NA ncRNA_intronic ENSG00000251287,ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs9713344 0.31 0.31 0.208 0.310903 0.4175 0.248 0.3646 0.2171 0.3548 0.4 0.21 0.39 0.21 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476125 NA NA NA NA NA 0.029 NA 4.2491666 1227 1 210014093 210014093 A T intronic DIEXF NA NA NA intronic ENSG00000117597 NA NA NA NA NA 1q32.2 NA NA Name=17 NA rs654470 0.81 0.81 0.815 0.817692 0.7515 0.8016 0.7579 0.9523 0.7628 0.75 0.8 0.79 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181559 NA NA NA NA NA 0.877 NA 4.2485 1227 7 56665688 56665688 C G intergenic DKFZp434L192,LOC100130849 dist=100711;dist=277390 NA NA ncRNA_exonic ENSG00000213067 NA NA NA Score=756;Name=lod=1579 NA 7p11.2 NA NA NA NA rs4470985 0.7 0.7 0.679 0.711462 0.7515 0.5942 0.7363 0.7481 0.7239 0.75 0.59 0.72 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399048 NA NA NA NA NA 0.761 NA 4.2485 1227 13 77559950 77559950 A G intergenic IRG1,CLN5 dist=27174;dist=6109 NA NA ncRNA_exonic ENSG00000228002 NA NA NA Score=666;Name=lod=678 NA 13q22.3 NA NA NA NA rs389644 0.68 0.68 0.681 0.627796 0.7515 0.4851 0.6499 0.7776 0.4294 0.75 0.51 0.7 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710787 NA NA NA NA NA 0.667 NA 4.2485 1227 13 77560008 77560008 T C intergenic IRG1,CLN5 dist=27232;dist=6051 NA NA ncRNA_exonic ENSG00000228002 NA NA NA Score=666;Name=lod=678 NA 13q22.3 NA NA NA NA rs392121 0.68 0.68 0.682 0.627796 0.7515 0.4851 0.6499 0.7776 0.4294 0.75 0.51 0.7 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276931 NA NA NA NA NA 0.667 NA 4.2485 1227 12 103271350 103271350 G A intronic PAH NA NA NA intronic ENSG00000171759 NA NA NA NA NA 12q23.2 NA NA NA NA rs2037639 0.32 0.32 0.334 0.316494 0.2445 0.7004 0.1744 0.1203 0.3609 0.25 0.71 0.17 0.09 0.2761 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555346 NA NA 0.23093 0.13005 NA 0.37 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000088901.1;CLNDSDB=.;CLNDSDBID=. 4.24847 1227 14 20876621 20876621 G A UTR5 TEP1 NM_007110:c.-23C>T NA NA UTR5 ENSG00000129566 ENST00000262715:c.-23C>T,ENST00000556935:c.-23C>T,ENST00000555727:c.-23C>T,ENST00000556549:c.-23C>T NA NA NA NA 14q11.2 NA NA NA NA rs41301453 0.02 0.02 0.02 0.0269569 0.0268 NA 0.0187 0.059 0.0174 0.03 NA 0.02 0.04 0.0285 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329311 NA NA 0.03 0.064458 NA NA NA 4.2480334 1227 19 8411366 8411366 C G intergenic KANK3,ANGPTL4 dist=3220;dist=17645 NA NA upstream ENSG00000265364,ENSG00000268884 NA NA NA NA NA 19p13.2 NA NA Name=2 NA rs55774284 0.19 0.19 0.168 0.154153 0.2525 0.1379 0.3833 0.0159 0.0941 0.25 0.15 0.35 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.505748 2.505748 NA NA NA NA 0.232 NA 4.2475 1227 21 38126507 38126507 T C UTR3 HLCS NM_001242785:c.*40A>G,NM_000411:c.*40A>G,NM_001242784:c.*40A>G NA NA UTR3 ENSG00000159267 ENST00000336648:c.*40A>G,ENST00000399120:c.*40A>G NA NA NA NA 21q22.13 NA NA NA NA rs77014096 0.02 0.02 0.024 0.0235623 0.0308 0.0486 0.0288 0.0015 0.0164 0.02 0.04 0.03 0.002 0.0278 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03184 NA NA 0.027254 0.006585 NA 0.036 NA 4.2474794 1227 11 2017110 2017110 C G ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA Name=Egr-1 NA NA rs2839701 0.35 0.35 0.305 0.290136 0.499 0.3313 0.4092 0.0552 0.2658 0.52 0.33 0.4 0.07 0.4142 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932308 NA NA 0.506533 0.121143 NA 0.333 NA 4.2469336 1227 17 2200434 2200434 A C intronic SMG6 NA NA NA intronic ENSG00000070366 NA NA NA NA NA 17p13.3 NA NA Name=6 NA rs170043 0.83 0.83 0.837 0.834864 0.7535 0.8442 0.8156 0.9425 0.7771 0.74 0.85 0.82 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557702 NA NA NA NA NA 0.812 NA 4.2465 1227 22 32589034 32589034 T C exonic RFPL2 NA synonymous SNV RFPL2:NM_006605:exon1:c.A228G:p.L76L,RFPL2:NM_001159545:exon3:c.A141G:p.L47L,RFPL2:NM_001159546:exon3:c.A141G:p.L47L,RFPL2:NM_001098527:exon4:c.A411G:p.L137L exonic ENSG00000128253 NA synonymous SNV ENSG00000128253:ENST00000248980:exon1:c.A228G:p.L76L,ENSG00000128253:ENST00000248983:exon3:c.A141G:p.L47L,ENSG00000128253:ENST00000400236:exon4:c.A141G:p.L47L,ENSG00000128253:ENST00000400237:exon4:c.A411G:p.L137L NA NA 22q12.3 NA NA NA NA rs136479 0.44 0.44 0.436 0.472644 0.494 0.1498 0.3775 0.8207 0.3804 0.48 0.13 0.37 0.8 0.4501 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367551 NA NA 0.476512 0.771221 NA 0.507 NA 4.2460546 1227 1 235383188 235383188 A G exonic ARID4B NA synonymous SNV ARID4B:NM_001206794:exon16:c.T1503C:p.D501D,ARID4B:NM_016374:exon16:c.T1503C:p.D501D,ARID4B:NM_031371:exon16:c.T1503C:p.D501D exonic ENSG00000054267 NA synonymous SNV ENSG00000054267:ENST00000264183:exon16:c.T1503C:p.D501D,ENSG00000054267:ENST00000349213:exon16:c.T1503C:p.D501D,ENSG00000054267:ENST00000366603:exon16:c.T1503C:p.D501D,ENSG00000054267:ENST00000421364:exon16:c.T1503C:p.D501D NA NA 1q42.3 NA NA NA NA rs4659654 0.43 0.43 0.42 0.451478 0.4791 0.251 0.5115 0.4433 0.5982 0.49 0.27 0.51 0.46 0.4778 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262195 NA NA 0.463829 0.47685 ID=COSM425633;OCCURENCE=1(breast) 0.536 NA 4.2459376 1227 3 149166171 149166171 G C intergenic TM4SF1,TM4SF4 dist=70603;dist=26197 NA NA intergenic ENSG00000240246,ENSG00000241929 dist=15110;dist=13798 NA NA NA NA 3q25.1 NA NA Name=98 NA rs78373836 0.05 0.05 0.053 0.0453275 0.0875 0.0268 0.0793 0.0121 0.0419 0.1 0.02 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165456 NA NA NA NA NA 0.08 NA 4.2458334 1227 9 130630430 130630430 A G intronic AK1 NA NA NA ncRNA_intronic ENSG00000257524 NA NA NA NA NA 9q34.11 NA NA NA NA rs6478799 0.14 0.14 0.156 0.152756 0.0875 0.0645 0.0893 0.3918 0.0327 0.08 0.07 0.09 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533984 NA NA NA NA NA 0.232 NA 4.2458333 1227 2 44497828 44497828 T A intergenic PPM1B,SLC3A1 dist=36086;dist=4769 NA NA ncRNA_exonic ENSG00000226972 NA NA NA Score=734;Name=lod=1285 NA 2p21 NA NA NA NA rs6725676 0.62 0.62 0.646 0.653554 0.7545 0.3671 0.6455 0.6475 0.8589 0.74 0.39 0.66 0.69 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683611 NA NA NA NA NA 0.681 NA 4.2455 1227 14 74192165 74192165 T C intronic ELMSAN1 NA NA NA intronic ENSG00000156030 NA NA NA NA NA 14q24.3 NA NA Name=4 NA rs10136165 0.86 0.86 0.877 0.855831 0.7545 0.9157 0.8184 0.9644 0.7781 0.73 0.95 0.83 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952718 NA NA NA NA NA 0.855 NA 4.2455 1227 17 28511978 28511978 G A exonic NSRP1 NA synonymous SNV NSRP1:NM_001261467:exon6:c.G801A:p.Q267Q,NSRP1:NM_032141:exon7:c.G963A:p.Q321Q exonic ENSG00000126653 NA synonymous SNV ENSG00000126653:ENST00000247026:exon7:c.G963A:p.Q321Q NA NA 17q11.2 NA NA NA NA rs1979572 0.59 0.59 0.598 0.58127 0.4433 0.8224 0.5634 0.5333 0.5521 0.45 0.83 0.55 0.57 0.5173 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.42634 NA NA 0.460814 0.511575 NA 0.725 NA 4.2452526 1228 17 4936178 4936178 A G UTR3 SLC52A1 NM_001104577:c.*74T>C,NM_017986:c.*74T>C NA NA UTR3 ENSG00000132517 ENST00000254853:c.*74T>C,ENST00000512825:c.*244T>C,ENST00000424747:c.*74T>C NA NA NA NA 17p13.2 NA NA NA NA rs60480329 0.14 0.14 0.136 0.159145 0.0885 0.0516 0.049 0.4584 0.0164 0.08 0.05 0.05 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717662 NA NA NA NA NA 0.203 NA 4.2448334 1228 2 12163800 12163800 C G intergenic MIR4262,TRIB2 dist=186688;dist=693198 NA NA ncRNA_intronic ENSG00000224184 NA NA NA Score=626;Name=lod=467 NA 2p25.1 NA NA NA NA rs4669796 0.63 0.63 0.603 0.614816 0.7555 0.6141 0.6974 0.3533 0.7658 0.77 0.6 0.7 0.39 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033174 NA NA NA NA NA 0.616 NA 4.2445 1228 5 7302009 7302009 T C ncRNA_exonic LOC442132 NA NA NA ncRNA_splicing ENSG00000205976 ENST00000512854:exon8:c.638-2A>G NA NA NA NA 5p15.31 NA NA NA NA rs16874928 0.59 0.59 0.567 0.584665 0.4225 0.8333 0.611 0.5416 0.5348 0.41 0.83 0.57 0.58 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485852 NA NA NA NA NA 0.37 NA 4.2441666 1228 5 17491659 17491659 A G intergenic LOC401177,CDH18 dist=104240;dist=1981496 NA NA ncRNA_exonic ENSG00000268799 NA NA NA Score=737;Name=lod=1323 NA 5p15.1 NA NA NA NA rs2459842 0.61 0.61 0.545 0.598642 0.7565 0.4474 0.6023 0.5613 0.6401 0.75 0.41 0.66 0.58 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500655 NA NA NA NA ID=COSM449347;OCCURENCE=3(breast) 0.609 NA 4.2435 1228 3 156870816 156870816 A G intronic CCNL1 NA NA NA intronic ENSG00000163660 NA NA NA NA NA 3q25.31 NA Name=Pol2 NA NA rs41272613 0.27 0.27 0.227 0.23722 0.2584 0.3333 0.4741 0.0635 0.183 0.25 0.36 0.43 0.07 0.2546 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.643414 1.643414 NA 0.243721 0.100999 ID=COSM149503;OCCURENCE=1(stomach) 0.174 NA 4.243279 1228 16 77850999 77850999 A G intronic VAT1L NA NA NA intronic ENSG00000171724 NA NA NA NA NA 16q23.1 NA NA Name=2 NA rs2966052 0.21 0.21 0.171 0.219449 0.2664 0.1885 0.2522 0.1203 0.3139 0.26 0.2 0.25 0.1 0.253 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.462374 1.462374 NA 0.237765 0.13351 NA 0.188 NA 4.242835 1228 4 158281371 158281371 C G intronic GRIA2 NA NA NA ncRNA_exonic ENSG00000263738 NA NA NA NA NA 4q32.1 NA NA NA NA rs4438801 0.06 0.06 0.053 0.0495208 0.0915 0.005 0.0476 0.0726 0.0225 0.08 0.0017 0.06 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319106 NA NA NA NA NA 0.022 NA 4.2418333 1228 7 98637855 98637855 C T intronic SMURF1 NA NA NA ncRNA_intronic ENSG00000242687 NA NA NA NA NA 7q22.1 NA NA NA NA rs998848 0.3 0.3 NA 0.29393 0.0915 0.1895 0.2176 0.7489 0.0491 0.09 0.21 0.23 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703817 NA NA NA NA NA 0.304 NA 4.2418333 1228 4 186678161 186678161 C T intronic SORBS2 NA NA NA intronic ENSG00000154556 NA NA NA Score=564;Name=lod=262 NA 4q35.1 NA NA NA NA rs13130022 0.71 0.71 0.71 0.714058 0.7584 0.4871 0.7089 0.8215 0.7607 0.75 0.54 0.72 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2917 NA NA NA NA NA 0.71 NA 4.2416 1228 19 16013843 16013843 T C intergenic CYP4F2,CYP4F11 dist=4959;dist=9337 NA NA ncRNA_exonic ENSG00000267218 NA NA NA Score=745;Name=lod=1424 NA 19p13.12 NA NA NA NA rs6512068 0.67 0.67 0.626 0.668131 0.7584 0.4315 0.6527 0.7648 0.6994 0.77 0.43 0.68 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149894 NA NA NA NA NA 0.71 NA 4.2416 1228 4 40440215 40440215 T C exonic RBM47 NA synonymous SNV RBM47:NM_019027:exon3:c.A696G:p.E232E,RBM47:NM_001098634:exon4:c.A696G:p.E232E exonic ENSG00000163694 NA synonymous SNV ENSG00000163694:ENST00000381793:exon3:c.A696G:p.E232E,ENSG00000163694:ENST00000381795:exon3:c.A696G:p.E232E,ENSG00000163694:ENST00000514014:exon3:c.A582G:p.E194E,ENSG00000163694:ENST00000295971:exon4:c.A696G:p.E232E,ENSG00000163694:ENST00000319592:exon4:c.A696G:p.E232E,ENSG00000163694:ENST00000510871:exon4:c.A696G:p.E232E Score=645;Name=lod=558 NA 4p14 NA NA NA NA rs2291580 0.73 0.73 0.708 0.702476 0.8141 0.7331 0.781 0.4501 0.8415 0.82 0.77 0.78 0.53 0.7875 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632797 NA NA 0.823488 0.53291 ID=COSM447854,COSM447856,COSM447855;OCCURENCE=1(breast) 0.652 NA 4.2415786 1228 12 9462785 9462785 C G ncRNA_intronic LOC642846 NA NA NA ncRNA_intronic ENSG00000111788 NA NA NA NA NA 12p13.31 NA NA NA NA rs12580730 0.35 0.35 0.284 0.307907 0.4254 0.3948 0.317 0.1952 0.2434 0.42 0.41 0.31 0.2 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.625824 1.625824 NA NA NA NA 0.058 NA 4.2412666 1228 1 200594005 200594005 C T intergenic KIF14,DDX59 dist=4143;dist=19160 NA NA UTR3 ENSG00000118197 ENST00000447706:c.*24G>A NA NA NA NA 1q32.1 NA NA Name=86 NA rs2808257 0.32 0.32 0.313 0.375399 0.1521 0.497 0.3934 0.4002 0.4335 0.15 0.49 0.33 0.4 0.2671 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117211 NA NA 0.172907 0.358375 NA 0.239 NA 4.2412264 1228 10 105799216 105799216 G T exonic COL17A1 NA synonymous SNV COL17A1:NM_000494:exon43:c.C2883A:p.P961P exonic ENSG00000065618 NA synonymous SNV ENSG00000065618:ENST00000353479:exon43:c.C2883A:p.P961P Score=486;Name=lod=126 NA 10q24.33 NA NA NA NA rs2296219 0.72 0.72 0.692 0.683506 0.8171 0.8224 0.768 0.4145 0.7065 0.81 0.85 0.78 0.4 0.7769 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031408 NA NA 0.831628 0.487744 NA 0.746 NA 4.2410386 1228 16 84495509 84495509 G A intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs62050919 0.04 0.04 0.031 0.0347444 0.0924 0.0069 0.0504 0.0068 0.0307 0.08 0.0017 0.07 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603938 NA NA NA NA NA 0.022 NA 4.2409333 1228 19 35660546 35660546 T C UTR3 FXYD5 NM_014164:c.*28T>C,NM_144779:c.*28T>C,NM_001164605:c.*28T>C NA NA UTR3 ENSG00000089327 ENST00000392219:c.*28T>C,ENST00000592290:c.*309T>C,ENST00000590686:c.*28T>C,ENST00000541435:c.*28T>C,ENST00000342879:c.*28T>C,ENST00000588699:c.*83T>C,ENST00000423817:c.*28T>C,ENST00000392217:c.*28T>C NA NA NA NA 19q13.12 Score=920;Name=V$HOXA3_01 NA NA NA rs1046294 0.3 0.3 0.277 0.304513 0.3708 0.1399 0.3127 0.3722 0.3088 0.37 0.12 0.31 0.39 0.3397 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455303 NA NA 0.382209 0.33182 NA 0.42 NA 4.2406244 1228 11 5411579 5411579 G A exonic OR51M1 NA synonymous SNV OR51M1:NM_001004756:exon1:c.G951A:p.K317K exonic ENSG00000184698 NA synonymous SNV ENSG00000184698:ENST00000328611:exon1:c.G951A:p.K317K NA NA 11p15.4 NA Name=CTCF NA NA rs10768906 0.67 0.67 0.7 0.714457 0.8231 0.5476 0.7349 0.7383 0.728 0.78 0.51 0.72 0.65 0.7775 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.670249 NA NA 0.82549 0.777147 NA NA NA 4.2405766 1228 22 42780985 42780985 T C UTR3 NFAM1 NM_145912:c.*182A>G NA NA UTR3 ENSG00000235568 ENST00000329021:c.*182A>G NA NA NA NA 22q13.2 NA NA NA NA rs12484229 0.16 0.16 0.097 0.160144 0.0934 0.2272 0.2867 0.0787 0.18 0.09 0.23 0.3 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376135 NA NA NA NA NA 0.087 NA 4.2399334 1228 9 27202870 27202870 A G exonic TEK NA synonymous SNV TEK:NM_000459:exon13:c.A1962G:p.S654S exonic ENSG00000120156 NA synonymous SNV ENSG00000120156:ENST00000519080:exon10:c.A1392G:p.S464S,ENSG00000120156:ENST00000519097:exon11:c.A1521G:p.S507S,ENSG00000120156:ENST00000406359:exon12:c.A1833G:p.S611S,ENSG00000120156:ENST00000380036:exon13:c.A1962G:p.S654S NA NA 9p21.2 NA NA NA NA rs639225 0.44 0.44 0.393 0.414337 0.4811 0.3998 0.5086 0.3336 0.4029 0.49 0.42 0.52 0.33 0.4649 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765269 NA NA 0.48093 0.378575 NA 0.471 NA 4.2397366 1228 12 9464828 9464828 C T ncRNA_intronic LOC642846 NA NA NA ncRNA_intronic ENSG00000111788 NA NA NA NA NA 12p13.31 NA NA NA NA rs12581470 0.38 0.38 0.36 0.345647 0.4274 0.3998 0.3314 0.3464 0.2147 0.42 0.41 0.33 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057802 NA NA NA NA NA 0.319 NA 4.2392666 1228 22 42781071 42781071 G A UTR3 NFAM1 NM_145912:c.*96C>T NA NA UTR3 ENSG00000235568 ENST00000329021:c.*96C>T NA NA NA NA 22q13.2 NA NA NA NA rs12484478 0.16 0.16 0.113 0.161542 0.0944 0.2272 0.2867 0.0855 0.1769 0.09 0.23 0.31 0.1 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802179 NA NA NA NA NA 0.087 NA 4.2389334 1228 19 43529027 43529027 A G exonic PSG11 NA synonymous SNV PSG11:NM_002785:exon2:c.T246C:p.Y82Y exonic ENSG00000243130 NA synonymous SNV ENSG00000243130:ENST00000320078:exon2:c.T246C:p.Y82Y,ENSG00000243130:ENST00000401740:exon2:c.T246C:p.Y82Y,ENSG00000243130:ENST00000593983:exon2:c.T138C:p.Y46Y,ENSG00000243130:ENST00000598133:exon2:c.T246C:p.Y82Y NA NA 19q13.31 NA NA NA NA rs1058958 0.53 0.53 0.59 0.642971 0.4751 0.9871 0.4942 0.6415 0.5685 0.38 0.84 0.43 0.48 0.5212 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773364 NA NA 0.431448 0.634834 NA NA NA 4.2389186 1228 5 115553680 115553680 C T intronic COMMD10 NA NA NA intronic ENSG00000145781 NA NA NA Score=507;Name=lod=153 NA 5q23.1 NA NA NA NA rs6872730 0.61 0.61 0.542 0.564497 0.7614 0.6528 0.6916 0.1399 0.7546 0.77 0.67 0.75 0.18 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984193 NA NA NA NA NA 0.536 NA 4.2386 1228 20 10367323 10367323 C G intergenic SNAP25,MKKS dist=79257;dist=18105 NA NA ncRNA_exonic ENSG00000230750 NA NA NA Score=618;Name=lod=432 NA 20p12.2 NA NA NA NA rs6039900 0.69 0.69 0.681 0.691294 0.7614 0.5268 0.8444 0.6974 0.6718 0.75 0.52 0.81 0.72 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45349 NA NA NA NA NA 0.703 NA 4.2386 1228 20 10367409 10367409 C T intergenic SNAP25,MKKS dist=79343;dist=18019 NA NA ncRNA_exonic ENSG00000230750 NA NA NA Score=769;Name=lod=1776 NA 20p12.2 NA NA NA NA rs6039901 0.69 0.69 0.674 0.691693 0.7614 0.5268 0.8444 0.6997 0.6708 0.75 0.52 0.81 0.72 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105952 NA NA NA NA NA 0.71 NA 4.2386 1228 21 46074104 46074104 T C intronic TSPEAR NA NA NA intronic ENSG00000175894 NA NA NA NA NA 21q22.3 NA NA Name=2 NA rs2073437 0.77 0.77 0.757 0.789537 0.7614 0.6637 0.7507 0.9198 0.7996 0.76 0.64 0.77 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661848 NA NA NA NA NA 0.696 NA 4.2386 1228 11 2016619 2016619 A G ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA NA Name=13 NA rs3741219 0.36 0.36 0.33 0.298323 0.5 0.3343 0.4121 0.0825 0.2648 0.52 0.33 0.41 0.11 0.4208 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67109 NA NA 0.50729 0.143429 NA 0.21 NA 4.2385766 1228 16 77850966 77850966 T C intronic VAT1L NA NA NA intronic ENSG00000171724 NA NA NA NA NA 16q23.1 NA NA Name=2 NA rs2966053 0.22 0.22 0.187 0.234824 0.2664 0.1885 0.255 0.171 0.3221 0.26 0.2 0.26 0.16 0.2581 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329922 NA NA 0.237326 0.171065 NA 0.203 NA 4.238174 1228 22 36007045 36007045 G A exonic MB NA synonymous SNV MB:NM_005368:exon2:c.C204T:p.T68T,MB:NM_203377:exon3:c.C204T:p.T68T,MB:NM_203378:exon3:c.C204T:p.T68T exonic ENSG00000198125 NA synonymous SNV ENSG00000198125:ENST00000397326:exon2:c.C204T:p.T68T,ENSG00000198125:ENST00000401702:exon2:c.C39T:p.T13T,ENSG00000198125:ENST00000442617:exon2:c.C39T:p.T13T,ENSG00000198125:ENST00000359787:exon3:c.C204T:p.T68T,ENSG00000198125:ENST00000397328:exon3:c.C204T:p.T68T,ENSG00000198125:ENST00000406324:exon3:c.C204T:p.T68T,ENSG00000198125:ENST00000443033:exon3:c.C204T:p.T68T,ENSG00000198125:ENST00000451685:exon3:c.C204T:p.T68T,ENSG00000198125:ENST00000419229:exon4:c.C204T:p.T68T,ENSG00000198125:ENST00000447607:exon4:c.C204T:p.T68T NA NA 22q12.3 NA NA NA NA rs7292 0.55 0.55 0.574 0.564297 0.4493 0.747 0.4798 0.5703 0.546 0.44 0.73 0.47 0.59 0.5118 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95449 NA NA 0.467674 0.550386 NA 0.5 NA 4.2378926 1228 17 62893412 62893412 A G UTR5 LRRC37A3 NM_199340:c.-37T>C NA NA ncRNA_UTR5 ENSG00000176809 NA NA NA NA NA 17q24.1 NA NA NA NA rs3874801 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA 0.1314 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022184 NA NA 0.130814 0.041725 NA NA NA 4.237786 1228 18 22008913 22008913 C T intronic IMPACT NA NA NA intronic ENSG00000154059 NA NA NA Score=284;Name=lod=19 NA 18q11.2 NA Name=CTCF Name=6 NA rs582358 0.87 0.87 0.862 0.86901 0.9374 0.6607 0.9755 0.9327 0.8517 0.93 0.67 0.97 0.95 0.903 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491413 NA NA 0.92186 0.929414 NA 0.855 NA 4.23774 1228 5 127120752 127120752 A T intergenic CTXN3,FLJ33630 dist=126430;dist=236492 NA NA ncRNA_exonic ENSG00000251032 NA NA NA Score=779;Name=lod=1954 NA 5q23.2 NA NA NA NA rs1464132 0.83 0.83 0.824 0.808706 0.7624 0.9048 0.8372 0.789 0.7638 0.77 0.91 0.81 0.82 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.692242 1.692242 NA NA NA NA 0.848 NA 4.2376 1228 22 22720928 22720928 G A intergenic LOC96610,ZNF280B dist=43604;dist=117844 NA NA ncRNA_exonic ENSG00000237428 NA NA NA Score=612;Name=lod=410 NA 22q11.22 NA NA NA NA rs5758013 0.75 0.75 0.731 0.725439 0.7624 0.8988 0.8098 0.4781 0.7832 0.76 0.91 0.8 0.49 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078702 NA NA NA NA NA 0.601 NA 4.2376 1228 22 22720982 22720982 C A intergenic LOC96610,ZNF280B dist=43658;dist=117790 NA NA ncRNA_exonic ENSG00000237428 NA NA NA Score=612;Name=lod=410 NA 22q11.22 NA NA NA NA rs5758014 0.72 0.72 0.716 0.72524 0.7624 0.8988 0.8098 0.4773 0.7832 0.74 0.87 0.76 0.48 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041632 NA NA NA NA NA NA NA 4.2376 1228 22 22720983 22720983 T G intergenic LOC96610,ZNF280B dist=43659;dist=117789 NA NA ncRNA_exonic ENSG00000237428 NA NA NA Score=612;Name=lod=410 NA 22q11.22 NA NA NA NA rs5758015 0.71 0.71 0.719 0.72524 0.7624 0.8988 0.8098 0.4773 0.7832 0.73 0.86 0.76 0.47 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11674 NA NA NA NA NA NA NA 4.2376 1228 22 27283289 27283289 T C intergenic MIAT,MN1 dist=210849;dist=860976 NA NA ncRNA_intronic ENSG00000231369 NA NA NA Score=745;Name=lod=1425 NA 22q12.1 NA NA NA NA rs2017722 0.77 0.77 0.748 0.761182 0.7624 0.8423 0.8372 0.7156 0.684 0.75 0.85 0.81 0.7 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090032 NA NA NA NA NA 0.717 NA 4.2376 1228 16 23847786 23847786 T C intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 NA Name=CTCF,CTCF_(C-20) NA NA rs7185969 0.74 0.74 0.708 0.722444 0.7624 0.7153 0.7752 0.7201 0.6544 0.78 0.68 0.76 0.75 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445758 1.445758 NA NA NA NA 0.275 NA 4.2376 1228 16 23847797 23847797 G C intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 NA Name=CTCF_(C-20),CTCF NA NA rs7184949 0.74 0.74 0.728 0.722444 0.7624 0.7153 0.7752 0.7201 0.6544 0.78 0.68 0.76 0.75 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794122 NA NA NA NA NA 0.297 NA 4.2376 1228 8 135577530 135577530 G A intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA Name=8 NA rs6999469 0.31 0.31 0.255 0.303115 0.2475 0.5387 0.3141 0.1172 0.3609 0.25 0.53 0.3 0.13 0.2883 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075148 NA NA 0.226708 0.135175 NA 0.159 NA 4.237492 1228 11 18729597 18729597 A G intronic IGSF22 NA NA NA ncRNA_intronic ENSG00000254966 NA NA NA NA NA 11p15.1 NA NA NA NA rs7110914 0.09 0.09 0.084 0.0888578 0.0964 0.0714 0.1297 0.0613 0.1074 0.1 0.08 0.11 0.07 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64824 NA NA NA NA NA 0.116 NA 4.2369333 1228 21 46077812 46077812 A G intronic TSPEAR NA NA NA intronic ENSG00000175894 NA NA NA NA NA 21q22.3 NA NA Name=8 NA rs2838617 0.77 0.77 0.773 0.789736 0.7634 0.6637 0.7507 0.9198 0.7986 0.77 0.64 0.77 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533021 NA NA NA NA NA 0.703 NA 4.2366 1228 12 69967862 69967862 G A exonic FRS2 NA synonymous SNV FRS2:NM_001042555:exon10:c.G654A:p.A218A,FRS2:NM_006654:exon10:c.G654A:p.A218A exonic ENSG00000166225 NA synonymous SNV ENSG00000166225:ENST00000550389:exon7:c.G654A:p.A218A,ENSG00000166225:ENST00000397997:exon8:c.G654A:p.A218A,ENSG00000166225:ENST00000549921:exon9:c.G654A:p.A218A,ENSG00000166225:ENST00000299293:exon10:c.G654A:p.A218A NA NA 12q15 NA NA NA NA rs547497 0.43 0.43 0.436 0.463059 0.4662 0.2708 0.5303 0.4894 0.5746 0.47 0.25 0.54 0.51 0.481 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.265918 1.265918 NA 0.482909 0.487996 ID=COSM147563;OCCURENCE=1(stomach) 0.493 NA 4.2365576 1228 11 2017017 2017017 A C ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA Name=Egr-1 NA NA rs2839702 0.35 0.35 0.326 0.290136 0.5 0.3323 0.4049 0.0552 0.2669 0.52 0.33 0.41 0.07 0.4211 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19432 NA NA 0.509045 0.121281 NA 0.333 NA 4.2365216 1228 2 216288841 216288841 T C intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA Name=42 NA rs56137176 0.19 0.19 0.173 0.190895 0.2664 NA 0.1671 0.2345 0.2679 0.27 NA 0.21 0.26 0.2346 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962232 NA NA 0.262558 0.225148 NA 0.188 NA 4.236442 1228 22 36537500 36537500 A T exonic APOL3 NA synonymous SNV APOL3:NM_145640:exon3:c.T957A:p.G319G,APOL3:NM_145642:exon4:c.T357A:p.G119G,APOL3:NM_145641:exon5:c.T357A:p.G119G exonic ENSG00000128284 NA synonymous SNV ENSG00000128284:ENST00000349314:exon3:c.T957A:p.G319G,ENSG00000128284:ENST00000361710:exon4:c.T357A:p.G119G,ENSG00000128284:ENST00000397293:exon4:c.T744A:p.G248G,ENSG00000128284:ENST00000424878:exon4:c.T357A:p.G119G,ENSG00000128284:ENST00000397287:exon5:c.T357A:p.G119G NA NA 22q12.3 NA NA NA NA rs132618 0.36 0.36 0.361 0.36262 0.496 0.3502 0.3847 0.0651 0.6247 0.51 0.36 0.43 0.08 0.4488 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385526 NA NA 0.485465 0.13005 ID=COSM149285;OCCURENCE=1(stomach) 0.384 NA 4.2364016 1228 10 50960209 50960209 G A exonic OGDHL NA synonymous SNV OGDHL:NM_001143996:exon4:c.C393T:p.L131L,OGDHL:NM_018245:exon5:c.C564T:p.L188L exonic ENSG00000197444 NA synonymous SNV ENSG00000197444:ENST00000419399:exon4:c.C393T:p.L131L,ENSG00000197444:ENST00000374103:exon5:c.C564T:p.L188L NA NA 10q11.23 NA NA NA NA rs1258184 0.52 0.52 0.467 0.464257 0.4642 0.9107 0.4798 0.1407 0.4305 0.47 0.9 0.52 0.15 0.4814 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.216853 NA NA 0.484884 0.198593 NA 0.333 NA 4.2361826 1228 20 30746248 30746248 T C intronic TM9SF4 NA NA NA intronic ENSG00000101337 NA NA NA NA NA 20q11.21 Score=705;Name=V$HOX13_01 Name=Pol2 NA NA rs6061195 0.76 0.76 0.75 0.741014 0.5467 0.9742 0.7061 0.9062 0.502 0.55 0.98 0.67 0.92 0.6456 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164814 NA NA 0.57186 0.829551 NA 0.725 NA 4.23584 1228 7 53103571 53103571 G A exonic POM121L12 NA synonymous SNV POM121L12:NM_182595:exon1:c.G207A:p.G69G exonic ENSG00000221900 NA synonymous SNV ENSG00000221900:ENST00000408890:exon1:c.G207A:p.G69G NA NA 7p12.1 NA NA NA NA rs11238248 0.37 0.37 0.348 0.328674 0.4861 0.3026 0.4308 0.1725 0.3323 0.49 0.31 0.43 0.2 0.4393 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295191 NA NA 0.505443 0.211569 NA 0.362 NA 4.2358236 1228 9 138679895 138679895 T C intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA Score=478;Name=lod=117 NA 9q34.3 NA NA NA NA rs11103190 0.31 0.31 0.295 0.329473 0.2356 0.3294 0.2435 0.4796 0.2843 0.23 0.31 0.25 0.48 0.2693 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831011 NA NA 0.259302 0.452338 NA 0.326 NA 4.235798 1228 4 2951519 2951519 A G ncRNA_intronic NOP14-AS1 NA NA NA ncRNA_intronic ENSG00000249673 NA NA NA NA NA 4p16.3 NA NA NA NA rs2515961 0.42 0.42 0.388 0.402356 0.4314 0.1895 0.4107 0.6808 0.2096 0.44 0.18 0.42 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848168 NA NA NA NA NA 0.341 NA 4.2352666 1228 4 100266133 100266133 T C exonic ADH1C NA unknown UNKNOWN exonic ENSG00000248144 NA unknown UNKNOWN NA NA 4q23 NA NA NA NA rs2241894 0.42 0.42 0.435 0.471645 0.2306 0.7639 0.1744 0.4947 0.5982 0.23 0.77 0.17 0.49 0.3088 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635088 NA NA 0.225349 0.448933 NA 0.435 NA 4.235251 1228 15 79502096 79502096 G C ncRNA_intronic LOC729911 NA NA NA ncRNA_intronic ENSG00000259234 NA NA NA NA NA 15q25.1 NA NA Name=7 NA rs12903401 0.44 0.44 0.387 0.391174 0.4781 0.5952 0.5821 0.1293 0.3098 0.47 0.6 0.53 0.12 0.4577 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.479972 2.479972 NA 0.495804 0.191864 NA 0.333 NA 4.2350626 1229 1 201355943 201355943 C T exonic LAD1 NA synonymous SNV LAD1:NM_005558:exon3:c.G546A:p.K182K exonic ENSG00000159166 NA synonymous SNV ENSG00000159166:ENST00000367313:exon3:c.G588A:p.K196K,ENSG00000159166:ENST00000391967:exon3:c.G546A:p.K182K NA NA 1q32.1 NA NA NA NA rs2799677 0.52 0.52 0.52 0.517572 0.4622 0.5179 0.3775 0.7474 0.363 0.46 0.49 0.42 0.72 0.4814 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023228 NA NA 0.488256 0.690422 NA 0.58 NA 4.2348106 1229 6 51938242 51938242 A G intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.2 NA NA NA NA rs9474140 0.32 0.32 0.303 0.329872 0.2455 0.4216 0.245 0.3177 0.3988 0.24 0.41 0.25 0.37 0.2766 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.662112 NA NA 0.243256 0.328416 ID=COSN167790;OCCURENCE=1(large_intestine) 0.283 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082557.1;CLNDSDB=.;CLNDSDBID=. 4.234644 1229 2 133066879 133066879 G A intergenic ANKRD30BL,GPR39 dist=51337;dist=107268 NA NA upstream ENSG00000018607 NA NA NA NA NA 2q21.2 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs2677610 NA NA NA 0.223842 0.2654 0.1647 0.2478 0.143 0.3344 NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730133 NA NA NA NA NA 0.471 NA 4.2346 1229 11 116657561 116657561 C T intronic ZNF259 NA NA NA intronic ENSG00000109917 NA NA NA NA Name=Obesity-related traits 11q23.3 NA NA NA NA rs3741298 0.67 0.67 0.669 0.649561 0.7654 0.5913 0.572 0.6339 0.6667 0.78 0.57 0.63 0.67 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.634977 1.634977 NA NA NA NA 0.739 NA 4.2346 1229 9 123586737 123586737 T G intronic PSMD5 NA NA NA intronic ENSG00000095261 NA NA NA NA NA 9q33.2 NA NA NA NA rs10760117 0.48 0.48 0.449 0.489217 0.5895 0.4732 0.6542 0.1611 0.729 0.59 0.46 0.62 0.22 0.5815 0.62 0 D . . . . . . 1.000 P . . . . -0.938 T 0.000 T 0.043 1.217 9.939 -1.71 -0.279 0.133 5.168 1.216911 NA 0 0.594535 0.22946 NA 0.5 NA 4.234465 1229 19 45185810 45185810 G A intronic CEACAM19 NA NA NA ncRNA_intronic ENSG00000266903 NA NA NA NA NA 19q13.31 NA NA NA NA rs116354108 0.04 0.04 0.052 0.0461262 0.0199 NA 0.0202 0.1241 0.0337 0.02 NA 0.03 0.14 0.0592 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0631 NA NA 0.019809 0.105431 NA 0.014 NA 4.2344243 1229 1 18149566 18149566 C A exonic ACTL8 NA synonymous SNV ACTL8:NM_030812:exon2:c.C63A:p.G21G exonic ENSG00000117148 NA synonymous SNV ENSG00000117148:ENST00000375406:exon2:c.C63A:p.G21G NA NA 1p36.13 NA NA NA NA rs2296035 0.52 0.52 0.5 0.482827 0.4732 0.6865 0.5807 0.3215 0.4315 0.5 0.69 0.49 0.35 0.4969 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605718 NA NA 0.462209 0.343395 NA 0.377 NA 4.2343576 1229 21 15326405 15326405 C T ncRNA_exonic ANKRD20A11P NA NA NA ncRNA_exonic ENSG00000215559 NA NA NA NA NA 21q11.2 NA NA NA NA rs8127713 0.44 0.44 0.419 0.479233 0.4324 0.3651 0.5836 0.5182 0.5184 0.42 0.35 0.54 0.5 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225724 NA NA NA NA NA 0.014 NA 4.2342666 1229 8 91064126 91064126 G A UTR3 DECR1 NM_001359:c.*1G>A NA NA UTR3 ENSG00000104325 ENST00000220764:c.*1G>A,ENST00000519328:c.*580G>A,ENST00000517597:c.*680G>A,ENST00000522161:c.*1G>A,ENST00000520148:c.*116G>A NA NA NA NA 8q21.3 NA NA NA NA rs7162 0.02 0.02 0.01 0.0103834 0.0328 NA 0.013 0.0023 0.0072 0.04 NA 0.01 0.0041 0.0279 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153417 NA NA 0.038488 0.007717 NA NA NA 4.2341454 1229 22 41744022 41744022 C G intronic ZC3H7B NA NA NA intronic ENSG00000100403 NA NA NA NA NA 22q13.2 NA Name=ZNF263 NA NA rs761366 0.19 0.19 0.136 0.207268 0.2525 0.0546 0.415 0.056 0.3753 0.25 0.06 0.43 0.06 0.2625 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064791 NA NA 0.25093 0.083976 ID=COSN166763;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.232 NA 4.23407 1229 1 205595068 205595068 A G intronic ELK4 NA NA NA ncRNA_intronic ENSG00000236942 NA NA NA NA NA 1q32.1 NA NA NA NA rs12048270 0.18 0.18 0.105 0.234425 0.0994 0.3819 0.1311 0.2239 0.3088 0.1 0.34 0.1 0.18 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636612 NA NA NA NA NA 0.167 NA 4.2339333 1229 11 124121199 124121199 G C exonic OR8G1 NA unknown UNKNOWN ncRNA_exonic ENSG00000197849 NA NA NA Score=265;Name=lod=16 NA 11q24.2 NA NA NA NA rs4268525 0.5 0.5 0.466 0.444688 0.5527 0.5833 0.5591 0.3154 0.2843 0.54 0.59 0.54 0.31 0.4996 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414446 NA NA 0.547219 0.352161 NA 0.297 NA 4.2338143 1229 17 41154600 41154600 C T intronic RPL27 NA NA NA intronic ENSG00000131469 NA NA NA NA NA 17q21.31 NA Name=Pol2,Pol2-4H8 NA NA rs8076790 0.79 0.79 0.798 0.748802 0.7664 0.8472 0.7997 0.6558 0.7188 0.77 0.87 0.77 0.72 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035503 NA NA NA NA NA 0.797 NA 4.2336 1229 1 6694574 6694574 G A UTR3 DNAJC11,THAP3 NM_018198:c.*1161C>T;NM_138350:c.*426G>A NA NA UTR3 ENSG00000007923,ENSG00000041988 ENST00000349363:c.*12C>T,ENST00000377577:c.*1161C>T,ENST00000451196:c.*12C>T;ENST00000377627:c.*426G>A NA NA NA NA 1p36.31 NA NA Name=6 NA rs6804 0.3 0.3 0.296 0.336861 0.33 0.3869 0.3343 0.1921 0.4898 0.33 0.38 0.31 0.16 0.4264 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491691 NA NA 0.343734 0.200918 NA 0.312 NA 4.2331994 1229 3 193081864 193081864 G A intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 Score=824;Name=V$BRN2_01 NA NA NA rs923495 0.25 0.25 0.219 0.289936 0.2326 0.2232 0.2781 0.3434 0.3538 0.23 0.21 0.25 0.32 0.2748 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194353 NA NA 0.26 0.344076 NA 0.21 NA 4.2326 1229 10 135352153 135352153 A G intronic CYP2E1 NA NA NA intronic ENSG00000130649,ENSG00000203772 NA NA NA NA Name=Obesity-related traits 10q26.3 NA NA NA NA rs2249694 0.59 0.59 0.544 0.554113 0.7674 0.5565 0.745 0.2398 0.6217 0.77 0.56 0.73 0.27 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172527 NA NA NA NA NA 0.543 NA 4.2326 1229 19 45574113 45574113 T G UTR3 CLASRP NM_007056:c.*10T>G NA NA UTR3 ENSG00000104859 ENST00000221455:c.*10T>G,ENST00000391953:c.*10T>G,ENST00000391952:c.*254T>G,ENST00000544944:c.*10T>G,ENST00000591904:c.*10T>G NA NA NA NA 19q13.32 NA NA NA NA rs201269048 0.02 0.02 NA 0.0183706 0.0388 NA 0.0173 0.003 0.0378 0.04 NA 0.03 NA 0.0366 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330845 NA NA 0.025698 0.002497 NA NA NA 4.2322354 1229 6 126965321 126965321 G A intergenic CENPW,RSPO3 dist=295567;dist=474727 NA NA ncRNA_exonic ENSG00000217325 NA NA NA Score=719;Name=lod=1118 NA 6q22.32 NA NA NA NA rs6926614 0.85 0.85 0.859 0.908946 0.7684 0.997 0.8991 0.9077 0.9714 0.74 0.99 0.85 0.88 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659943 NA NA NA NA NA 0.826 NA 4.2316 1229 14 54458078 54458078 C T intergenic BMP4,CDKN3 dist=34524;dist=405595 NA NA ncRNA_exonic ENSG00000224004 NA NA NA Score=562;Name=lod=256 NA 14q22.2 NA NA NA NA rs1957844 0.58 0.58 0.59 0.553514 0.7684 0.4633 0.6052 0.3638 0.6452 0.75 0.47 0.64 0.4 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252645 1.252645 NA NA NA NA 0.514 NA 4.2316 1229 14 54458159 54458159 T C intergenic BMP4,CDKN3 dist=34605;dist=405514 NA NA ncRNA_exonic ENSG00000224004 NA NA NA Score=525;Name=lod=181 NA 14q22.2 NA NA NA NA rs1957845 0.58 0.58 0.587 0.553714 0.7684 0.4643 0.6052 0.3638 0.6452 0.75 0.47 0.64 0.4 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.067348 NA NA NA NA NA 0.514 NA 4.2316 1229 18 21474827 21474827 G A intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA Name=3 NA rs1268716 0.18 0.18 0.166 0.16853 0.2624 0.1875 0.1902 0.0151 0.2444 0.27 0.17 0.2 0.03 0.2355 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385109 NA NA 0.27093 0.057649 NA 0.174 NA 4.23117 1229 7 150498245 150498245 T C UTR5 TMEM176B NM_014020:c.-4588A>G NA NA UTR5 ENSG00000106565 ENST00000447204:c.-4588A>G NA NA NA NA 7q36.1 NA NA NA NA rs114949263 0.05 0.05 0.049 0.0453275 0.1024 0.002 0.0648 0.0333 0.0337 0.09 NA 0.07 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594073 NA NA NA NA NA 0.08 NA 4.2309334 1229 1 109796053 109796053 C T intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA Name=Pol2 NA NA rs2359414 0.29 0.29 0.261 0.303514 0.2416 0.4504 0.2522 0.2753 0.2904 0.25 0.44 0.23 0.24 0.2937 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062661 NA NA 0.234075 0.250458 NA 0.261 NA 4.230625 1229 1 207040659 207040659 G A intronic IL20 NA NA NA intronic ENSG00000162891 NA NA NA NA NA 1q32.1 NA Name=GTF2F1_(RAP-74),STAT3,c-Jun,JunD,USF2 NA NA rs2232360 0.65 0.65 0.635 0.673323 0.7694 0.3383 0.6715 0.8124 0.7331 0.78 0.29 0.71 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780355 NA NA NA NA NA 0.63 NA 4.2306 1229 14 21168084 21168084 C T UTR3 RNASE4 NM_002937:c.*110C>T,NM_194431:c.*110C>T NA NA ncRNA_exonic ENSG00000259171 NA NA NA NA NA 14q11.2 NA NA NA NA rs11541061 0.32 0.32 0.3 0.269169 0.2694 0.5615 0.2334 0.0809 0.2474 0.27 0.6 0.27 0.11 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152598 NA NA NA NA NA 0.261 NA 4.2306 1229 1 41499540 41499540 T C ncRNA_intronic SLFNL1-AS1 NA NA NA intronic ENSG00000010803 NA NA NA NA NA 1p34.2 NA NA NA NA rs74545213 0.09 0.09 0.07 0.0914537 0.1034 0.119 0.1542 0.0038 0.1247 0.1 0.12 0.13 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480428 NA NA NA NA NA 0.043 NA 4.2299333 1229 8 6886972 6886972 G A ncRNA_exonic DEFA11P NA NA NA ncRNA_exonic ENSG00000234178 NA NA NA NA NA 8p23.1 NA NA NA NA rs4403430 0.39 0.39 0.396 0.361621 0.4374 0.4167 0.3127 0.2784 0.3742 0.45 0.43 0.38 0.26 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.486522 NA NA NA NA NA 0.399 NA 4.2292666 1229 16 57710093 57710093 C G intronic GPR97 NA NA NA intronic ENSG00000182885 NA NA NA NA NA 16q21 NA Name=BAF155,GTF2F1_(RAP-74),Pol2,SP1,TBP,JunD,TAL1_(SC-12984),NANOG_(SC-33759) Name=26 NA rs12596635 0.45 0.45 0.406 0.439297 0.6123 0.4563 0.4424 0.1959 0.5706 0.63 0.43 0.42 0.21 0.5338 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664026 NA NA 0.625116 0.268426 NA 0.471 NA 4.228784 1229 19 54746625 54746625 G A UTR5 LILRA6 NM_024318:c.-25C>T NA NA UTR5 ENSG00000244482 ENST00000440558:c.-25C>T,ENST00000396365:c.-25C>T NA NA NA NA 19q13.42 NA NA NA NA rs201900075 0.02 0.02 0.02 0.00998403 0.0388 NA 0.0115 0.0023 NA 0.04 NA 0.02 0.01 0.0313 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38993 NA NA 0.034512 0.00666 NA NA NA 4.2287214 1229 20 48574116 48574116 T C intergenic RNF114,SNAI1 dist=3694;dist=25397 NA NA ncRNA_exonic ENSG00000229222 NA NA NA NA NA 20q13.13 NA NA Name=17 NA rs1883553 0.7 0.7 0.653 0.679113 0.7714 0.8492 0.7695 0.3396 0.8037 0.76 0.86 0.76 0.35 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161235 NA NA NA NA NA 0.63 NA 4.2286 1229 19 20806893 20806893 T C UTR3 ZNF626 NM_001076675:c.*203A>G NA NA ncRNA_UTR3 ENSG00000188171 NA NA NA NA NA 19p12 NA NA NA NA rs11085364 0.07 0.07 0.05 0.0776757 0.1203 0.0724 0.0994 0.0121 0.1125 0.13 0.06 0.08 0.01 0.1512 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735799 NA NA NA NA NA 0.036 NA 4.2285 1229 12 30878859 30878859 G C intronic CAPRIN2 NA NA NA intronic ENSG00000110888 NA NA NA NA NA 12p11.21 NA Name=p300_(N-15),eGFP-FOS,c-Fos,c-Jun,STAT3,JunD,CEBPB,p300,CTCF,Rad21 Name=113 NA rs7304879 0.57 0.57 0.615 0.596246 0.5905 0.4643 0.3818 0.8737 0.5153 0.59 0.46 0.38 0.82 0.5816 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068562 NA NA 0.599884 0.825465 NA 0.529 NA 4.228016 1229 1 103343470 103343470 G A UTR3 COL11A1 NM_080629:c.*105C>T,NM_001190709:c.*105C>T,NM_080630:c.*105C>T,NM_001854:c.*105C>T NA NA UTR3 ENSG00000060718 ENST00000353414:c.*105C>T,ENST00000358392:c.*105C>T,ENST00000370096:c.*105C>T NA NA NA NA 1p21.1 NA NA NA NA rs1031820 0.12 0.12 0.122 0.103634 0.1054 0.0655 0.0706 0.1989 0.0358 0.1 0.07 0.07 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204527 NA NA NA NA NA 0.167 NA 4.2279334 1229 7 65599196 65599196 G A intronic CRCP NA NA NA ncRNA_intronic ENSG00000234185 NA NA NA NA NA 7q11.21 NA NA NA NA rs2243480 0.12 0.12 0.09 0.135982 0.1054 0.1488 0.2104 0.059 0.2055 0.09 0.18 0.18 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277963 NA NA NA NA NA 0.196 NA 4.2279333 1229 1 21799489 21799489 T C intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA Name=4 NA rs1971327 0.74 0.74 0.714 0.749601 0.7724 0.8125 0.7925 0.5371 0.9182 0.77 0.78 0.82 0.57 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.120653 NA NA NA NA NA 0.703 NA 4.2276 1229 20 36231369 36231369 A G intergenic BLCAP,LINC00489 dist=75036;dist=16331 NA NA ncRNA_exonic ENSG00000228234 NA NA NA NA NA 20q11.23 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs4810923 0.7 0.7 0.699 0.644768 0.7724 0.7222 0.7867 0.5212 0.5 0.77 0.75 0.75 0.49 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468435 NA NA NA NA NA 0.674 NA 4.2276 1229 2 100917109 100917109 C T exonic LONRF2 NA synonymous SNV LONRF2:NM_198461:exon4:c.G1062A:p.S354S exonic ENSG00000170500 NA synonymous SNV ENSG00000170500:ENST00000393437:exon4:c.G1062A:p.S354S,ENSG00000170500:ENST00000409647:exon4:c.G333A:p.S111S NA NA 2q11.2 NA NA NA NA rs13006224 0.44 0.44 0.397 0.378594 0.498 0.7252 0.4467 0.0325 0.318 0.5 0.73 0.42 0.03 0.457 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.611511 1.611511 NA 0.484535 0.113255 NA 0.348 NA 4.2271316 1229 8 27667719 27667719 C G UTR3 PBK NM_018492:c.*103G>C NA NA UTR3 ENSG00000168078 ENST00000301905:c.*103G>C,ENST00000522944:c.*103G>C NA NA NA NA 8p21.1 NA NA NA NA rs1052874 0.2 0.2 0.199 0.222843 0.1064 0.3611 0.1066 0.2837 0.2004 0.09 0.36 0.12 0.26 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.480137 1.480137 NA NA NA NA 0.246 NA 4.2269334 1229 2 70121197 70121197 T C intronic SNRNP27 NA NA NA intronic ENSG00000124380 NA NA NA NA NA 2p13.3 NA Name=NFKB,HEY1,ELF1_(SC-631),STAT1,HNF4G_(SC-6558),USF-1,TBP,JunD,TAF1,GABP,ELK4,STAT3,Pol2(phosphoS2),NRSF,Pol2,Pol2-4H8,TR4,KAP1,HDAC2_(SC-6296),Sin3Ak-20,YY1_(C-20),HA-E2F1 NA NA rs2278934 0.32 0.32 0.301 0.382987 0.2445 0.3313 0.2781 0.5416 0.4387 0.23 0.32 0.25 0.5 0.2971 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372932 NA NA 0.232791 0.480254 NA 0.319 NA 4.225609 1230 1 232581247 232581247 C G intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA NA Name=4 NA rs1409369 0.37 0.37 0.348 0.385583 0.2197 0.5347 0.4625 0.3684 0.3712 0.21 0.56 0.43 0.37 0.3175 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10783 NA NA 0.23789 0.362443 NA 0.399 NA 4.22491 1230 4 154579924 154579924 G A intergenic KIAA0922,TLR2 dist=22062;dist=25517 NA NA ncRNA_exonic ENSG00000248208 NA NA NA Score=686;Name=lod=818 NA 4q31.3 NA NA NA NA rs6819788 0.84 0.84 0.845 0.847045 0.7753 0.871 0.8977 0.851 0.8548 0.78 0.91 0.88 0.84 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.016854 NA NA NA NA NA 0.884 NA 4.2247 1230 17 37789998 37789998 T C intronic PPP1R1B NA NA NA intronic ENSG00000131771 NA NA NA NA NA 17q12 Score=761;Name=V$PPARG_01 NA NA NA rs11651497 0.56 0.56 0.551 0.520567 0.7753 0.4365 0.5865 0.2337 0.6861 0.78 0.51 0.63 0.23 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.131337 2.131337 NA NA NA NA 0.594 NA 4.2247 1230 3 148459395 148459395 C T exonic AGTR1 NA synonymous SNV AGTR1:NM_009585:exon2:c.C573T:p.L191L,AGTR1:NM_000685:exon3:c.C573T:p.L191L,AGTR1:NM_004835:exon3:c.C678T:p.L226L,AGTR1:NM_032049:exon3:c.C660T:p.L220L,AGTR1:NM_031850:exon4:c.C678T:p.L226L exonic ENSG00000144891 NA synonymous SNV ENSG00000144891:ENST00000402260:exon2:c.C573T:p.L191L,ENSG00000144891:ENST00000404754:exon2:c.C573T:p.L191L,ENSG00000144891:ENST00000475347:exon2:c.C573T:p.L191L,ENSG00000144891:ENST00000497524:exon2:c.C573T:p.L191L,ENSG00000144891:ENST00000349243:exon3:c.C573T:p.L191L,ENSG00000144891:ENST00000418473:exon3:c.C573T:p.L191L,ENSG00000144891:ENST00000461609:exon3:c.C573T:p.L191L,ENSG00000144891:ENST00000474935:exon3:c.C573T:p.L191L,ENSG00000144891:ENST00000542281:exon4:c.C573T:p.L191L NA NA 3q24 NA NA NA NA rs5182 0.47 0.47 0.417 0.458067 0.492 0.6865 0.585 0.1566 0.5051 0.5 0.67 0.56 0.14 0.4837 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.970743 NA NA 0.466395 0.215842 NA 0.449 NA 4.2245716 1230 20 56137834 56137834 A G exonic PCK1 NA synonymous SNV PCK1:NM_002591:exon4:c.A489G:p.S163S exonic ENSG00000124253 NA synonymous SNV ENSG00000124253:ENST00000535860:exon2:c.A93G:p.S31S,ENSG00000124253:ENST00000319441:exon4:c.A489G:p.S163S NA NA 20q13.31 NA NA NA NA rs1062601 0.32 0.32 0.313 0.314097 0.5229 0.0308 0.3372 0.323 0.363 0.53 0.03 0.38 0.31 0.4145 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547856 NA NA 0.504884 0.34158 NA 0.478 NA 4.2243826 1230 15 78209307 78209307 T C ncRNA_intronic LOC645752 NA NA NA ncRNA_exonic ENSG00000242066 NA NA NA NA NA 15q24.3 NA NA NA NA rs7162136 NA NA NA 0.439497 0.4423 0.6746 0.4424 0.2557 0.4407 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163253 NA NA NA NA NA NA NA 4.2243666 1230 3 164697082 164697082 A G UTR3 SI NM_001041:c.*68T>C NA NA UTR3 ENSG00000090402 ENST00000264382:c.*68T>C NA NA NA NA 3q26.1 NA NA NA NA rs73018867 0.21 0.21 0.236 0.24401 0.1093 0.0665 0.1052 0.6233 0.1513 0.1 0.07 0.11 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343805 NA NA NA NA NA 0.254 NA 4.2240334 1230 15 79852794 79852794 C T intergenic KIAA1024,MTHFS dist=88152;dist=283095 NA NA upstream ENSG00000259493 NA NA NA Score=794;Name=lod=2243 NA 15q25.1 NA NA NA NA rs12907949 0.35 0.35 0.313 0.328275 0.2763 0.6151 0.2507 0.2315 0.272 0.27 0.6 0.26 0.23 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886148 NA NA NA NA NA 0.29 NA 4.2237 1230 2 33412077 33412077 G A exonic LTBP1 NA synonymous SNV LTBP1:NM_000627:exon2:c.G378A:p.A126A,LTBP1:NM_001166264:exon2:c.G378A:p.A126A,LTBP1:NM_001166265:exon2:c.G378A:p.A126A,LTBP1:NM_001166266:exon2:c.G378A:p.A126A,LTBP1:NM_206943:exon6:c.G1356A:p.A452A exonic ENSG00000049323 NA synonymous SNV ENSG00000049323:ENST00000390003:exon2:c.G378A:p.A126A,ENSG00000049323:ENST00000402934:exon2:c.G378A:p.A126A,ENSG00000049323:ENST00000404525:exon2:c.G378A:p.A126A,ENSG00000049323:ENST00000407925:exon2:c.G378A:p.A126A,ENSG00000049323:ENST00000418533:exon2:c.G378A:p.A126A,ENSG00000049323:ENST00000432635:exon3:c.G135A:p.A45A,ENSG00000049323:ENST00000354476:exon6:c.G1356A:p.A452A,ENSG00000049323:ENST00000404816:exon6:c.G1356A:p.A452A NA NA 2p22.3 NA NA NA NA rs1065324 0.43 0.43 0.398 0.367812 0.4841 0.371 0.4496 0.2693 0.32 0.49 0.4 0.46 0.34 0.4592 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592677 NA NA 0.499884 0.331139 NA 0.355 NA 4.2234826 1230 7 39472669 39472669 C T intronic POU6F2 NA NA NA intronic ENSG00000106536 NA NA NA Score=570;Name=lod=277 NA 7p14.1 NA NA NA NA rs2302125 0.33 0.33 0.313 0.314297 0.2386 0.5119 0.2622 0.3185 0.2198 0.24 0.5 0.24 0.33 0.2845 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.060049 2.060049 NA 0.253488 0.340445 NA 0.239 NA 4.223412 1230 22 25320256 25320256 C T UTR3 SGSM1 NM_133454:c.*15C>T,NM_001098498:c.*15C>T,NM_001039948:c.*15C>T,NM_001098497:c.*15C>T NA NA UTR3 ENSG00000167037 ENST00000400358:c.*15C>T,ENST00000400359:c.*15C>T NA NA NA NA 22q11.23 NA NA NA NA rs9612811 0.03 0.03 0.022 0.01877 0.0447 0.001 0.0144 0.0242 0.0061 0.05 0.0017 0.03 0.02 0.0321 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34138 NA NA 0.033421 0.026446 NA 0.007 NA 4.2231124 1230 3 130547086 130547086 A C intergenic PIK3R4,ATP2C1 dist=81390;dist=22283 NA NA ncRNA_exonic ENSG00000232829 NA NA NA Score=500;Name=lod=143 NA 3q22.1 NA NA NA NA rs4487219 0.81 0.81 0.802 0.820687 0.7773 0.9196 0.8141 0.7973 0.7996 0.78 0.91 0.79 0.75 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735016 NA NA NA NA NA 0.71 NA 4.2227 1230 8 57390066 57390066 G A intergenic PENK,LOC100507632 dist=30784;dist=40812 NA NA ncRNA_exonic ENSG00000253541 NA NA NA Score=569;Name=lod=274 NA 8q12.1 NA NA NA NA rs2609979 0.81 0.81 0.807 0.821486 0.7773 0.8929 0.7954 0.7882 0.8569 0.78 0.89 0.78 0.77 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.522343 NA NA NA NA NA 0.87 NA 4.2227 1230 8 57390386 57390386 A G intergenic PENK,LOC100507632 dist=31104;dist=40492 NA NA ncRNA_exonic ENSG00000253541 NA NA NA Score=459;Name=lod=98 NA 8q12.1 NA NA NA NA rs2016795 0.73 0.73 0.806 0.821885 0.7773 0.8929 0.7954 0.7882 0.8589 0.71 0.83 0.72 0.65 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167239 NA NA NA NA NA 0.87 NA 4.2227 1230 11 407708 407708 A C intronic SIGIRR NA NA NA intronic ENSG00000185187 NA NA NA NA NA 11p15.5 NA Name=Egr-1 NA NA rs6421977 0.9 0.9 0.863 0.926717 0.7773 0.998 0.8977 0.9834 0.9509 0.78 1 0.88 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65126 NA NA NA NA NA 0.312 NA 4.2227 1230 14 79176021 79176021 A T intronic NRXN3 NA NA NA ncRNA_intronic ENSG00000258874 NA NA NA NA NA 14q24.3 NA NA NA NA rs71414707 0.02 0.02 0.019 0.0169728 0.0417 NA 0.0288 0.0023 0.0204 0.04 NA 0.04 0.002 0.0294 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897252 NA NA 0.039651 0.007263 NA 0.022 NA 4.2225823 1230 12 98711742 98711742 G A intergenic MIR4303,SLC9A7P1 dist=322516;dist=135877 NA NA ncRNA_exonic ENSG00000257580 NA NA NA Score=659;Name=lod=635 NA 12q23.1 NA NA NA NA rs1351342 0.75 0.75 0.75 0.715855 0.7783 0.9692 0.6297 0.4871 0.7607 0.79 0.97 0.69 0.5 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.737517 1.737517 NA NA NA NA 0.652 NA 4.2217 1230 14 51443968 51443968 C T UTR3 TRIM9 NM_015163:c.*41G>A NA NA UTR3 ENSG00000100505 ENST00000298355:c.*41G>A NA NA NA NA 14q22.1 NA NA NA NA rs11627694 0.01 0.01 0.009 0.0113818 0.0447 NA 0.013 NA 0.0031 0.04 NA 0.01 NA 0.029 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.101792 3.101792 NA 0.038032 0.007036 NA NA NA 4.2216014 1230 4 55604872 55604872 C T UTR3 KIT NM_000222:c.*149C>T,NM_001093772:c.*149C>T NA NA UTR3 ENSG00000157404 ENST00000288135:c.*149C>T,ENST00000412167:c.*149C>T NA NA NA NA 4q12 NA NA NA NA rs2213181 0.1 0.1 0.069 0.120607 0.1123 0.0863 0.085 0.1051 0.2106 0.12 0.1 0.08 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172897 NA NA NA NA NA 0.087 NA 4.2210334 1230 3 132409597 132409597 C A ncRNA_intronic NPHP3-ACAD11 NA NA NA intronic ENSG00000113971 NA NA NA NA NA 3q22.1 NA NA NA NA rs62292469 0.1 0.1 0.073 0.0924521 0.1123 0.1151 0.1326 0.0061 0.137 0.13 0.12 0.14 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307076 NA NA NA NA NA 0.051 NA 4.2210333 1230 1 53537266 53537266 G A exonic PODN NA synonymous SNV PODN:NM_153703:exon3:c.G516A:p.T172T,PODN:NM_001199081:exon4:c.G459A:p.T153T,PODN:NM_001199080:exon5:c.G459A:p.T153T exonic ENSG00000174348 NA synonymous SNV ENSG00000174348:ENST00000312553:exon3:c.G516A:p.T172T,ENSG00000174348:ENST00000371500:exon5:c.G459A:p.T153T NA NA 1p32.3 NA NA NA NA rs1769316 0.55 0.55 0.518 0.55611 0.4652 0.7371 0.6499 0.4977 0.4755 0.46 0.7 0.59 0.48 0.5116 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911566 NA NA 0.46907 0.522707 NA 0.645 NA 4.2207966 1230 4 154579875 154579875 A G intergenic KIAA0922,TLR2 dist=22013;dist=25566 NA NA ncRNA_exonic ENSG00000248208 NA NA NA Score=686;Name=lod=818 NA 4q31.3 NA NA NA NA rs6819254 0.85 0.85 0.841 0.850639 0.7793 0.876 0.8991 0.8563 0.8558 0.79 0.92 0.88 0.84 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720666 NA NA NA NA NA 0.884 NA 4.2207 1230 22 22541057 22541057 C T intergenic TOP3B,VPREB1 dist=203910;dist=58143 NA NA downstream ENSG00000236323 NA NA NA Score=669;Name=lod=696 NA 22q11.22 NA NA NA NA rs5995616 0.39 0.39 0.38 0.40615 0.2793 0.5159 0.4741 0.3079 0.5082 0.28 0.55 0.44 0.35 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588256 NA NA NA NA NA 0.239 NA 4.2207 1230 3 42244321 42244321 G A exonic TRAK1 NA synonymous SNV TRAK1:NM_001265610:exon12:c.G1599A:p.A533A exonic ENSG00000182606 NA synonymous SNV ENSG00000182606:ENST00000449246:exon12:c.G1599A:p.A533A NA NA 3p22.1 NA NA NA NA rs9311309 0.79 0.79 0.764 0.74401 0.6988 0.9792 0.8213 0.646 0.6258 0.69 0.99 0.8 0.71 0.7479 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439668 NA NA NA NA NA 0.775 NA 4.2199666 1230 2 89292182 89292182 A G intergenic MIR4436A,NONE dist=180214;dist=NONE NA NA exonic ENSG00000240671 NA nonsynonymous SNV ENSG00000240671:ENST00000495489:exon2:c.T91C:p.F31L NA NA 2p11.2 NA NA NA NA rs59175543 0.36 0.36 0.358 0.361621 0.1759 0.4117 0.3112 0.5121 0.3333 0.18 0.48 0.29 0.54 0.2494 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.509274 NA NA 0.188266 0.430548 NA 0.188 NA 4.2197674 1230 22 17339844 17339844 T A intergenic HSFY1P1,GAB4 dist=29619;dist=102983 NA NA ncRNA_exonic ENSG00000220248 NA NA NA Score=749;Name=lod=1479 NA 22q11.1 NA NA NA NA rs165796 0.83 0.83 0.822 0.851038 0.7803 0.871 0.7522 0.944 0.8476 0.77 0.87 0.73 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157328 NA NA NA NA NA 0.87 NA 4.2197 1230 22 22536940 22536940 T C intergenic TOP3B,VPREB1 dist=199793;dist=62260 NA NA upstream ENSG00000253637 NA NA NA NA NA 22q11.22 NA Name=eGFP-FOS,ZNF263 NA NA rs4145537 0.39 0.39 0.382 0.40635 0.2803 0.5179 0.4741 0.3071 0.5072 0.28 0.55 0.44 0.34 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.004837 NA NA NA NA NA 0.239 NA 4.2197 1230 20 31386449 31386449 T C exonic DNMT3B NA synonymous SNV DNMT3B:NM_001207056:exon12:c.T1386C:p.Y462Y,DNMT3B:NM_001207055:exon13:c.T1488C:p.Y496Y,DNMT3B:NM_175848:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_175849:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_175850:exon14:c.T1650C:p.Y550Y,DNMT3B:NM_006892:exon15:c.T1674C:p.Y558Y exonic ENSG00000088305 NA synonymous SNV ENSG00000088305:ENST00000456297:exon12:c.T1386C:p.Y462Y,ENSG00000088305:ENST00000443239:exon13:c.T1488C:p.Y496Y,ENSG00000088305:ENST00000201963:exon14:c.T1650C:p.Y550Y,ENSG00000088305:ENST00000344505:exon14:c.T1614C:p.Y538Y,ENSG00000088305:ENST00000348286:exon14:c.T1614C:p.Y538Y,ENSG00000088305:ENST00000353855:exon14:c.T1614C:p.Y538Y,ENSG00000088305:ENST00000328111:exon15:c.T1674C:p.Y558Y NA NA 20q11.21 NA NA NA NA rs2424922 0.71 0.71 0.716 0.755791 0.4205 0.9931 0.6599 0.913 0.7117 0.43 0.99 0.64 0.88 0.5792 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053403 NA NA 0.447674 0.831593 NA 0.616 NA 4.2192926 1230 3 132345482 132345482 G T ncRNA_intronic NPHP3-ACAD11 NA NA NA intronic ENSG00000113971,ENSG00000240303 NA NA NA NA NA 3q22.1 NA NA NA NA rs62291504 0.1 0.1 0.08 0.0940495 0.1143 0.12 0.1297 0.0053 0.1411 0.13 0.12 0.13 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167993 NA NA NA NA NA 0.065 NA 4.2190333 1230 7 76941547 76941547 C A intronic GSAP NA NA NA intronic ENSG00000186088 NA NA NA NA NA 7q11.23 NA Name=USF-1 NA NA rs35791980 0.4 0.4 NA 0.42472 0.3658 0.1359 0.4481 0.6929 0.4039 0.39 0.13 0.46 0.68 0.416 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336277 NA NA NA NA NA 0.355 NA 4.2182 1230 13 94047270 94047270 C T intronic GPC6 NA NA NA ncRNA_exonic ENSG00000235784 NA NA NA NA NA 13q31.3 NA NA NA NA rs17234460 0.27 0.27 0.237 0.263379 0.1153 0.4702 0.3343 0.1747 0.272 0.12 0.49 0.32 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495413 NA NA NA NA NA 0.188 NA 4.2180333 1230 16 16162019 16162019 T C exonic ABCC1 NA synonymous SNV ABCC1:NM_004996:exon13:c.T1684C:p.L562L exonic ENSG00000103222 NA synonymous SNV ENSG00000103222:ENST00000345148:exon13:c.T1684C:p.L562L,ENSG00000103222:ENST00000346370:exon13:c.T1684C:p.L562L,ENSG00000103222:ENST00000349029:exon13:c.T1684C:p.L562L,ENSG00000103222:ENST00000351154:exon13:c.T1684C:p.L562L,ENSG00000103222:ENST00000399408:exon13:c.T1684C:p.L562L,ENSG00000103222:ENST00000399410:exon13:c.T1684C:p.L562L Score=437;Name=lod=80 NA 16p13.11 NA NA NA NA rs35605 0.82 0.82 0.813 0.786542 0.829 0.8135 0.7824 0.8926 0.5746 0.82 0.77 0.76 0.91 0.7932 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844904 NA NA 0.826523 0.88599 NA 0.812 NA 4.2179436 1230 4 1725651 1725651 T C intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA NA Name=2 NA rs3099555 0.72 0.72 0.697 0.700479 0.7823 0.8532 0.6916 0.4652 0.7832 0.8 0.87 0.69 0.44 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603293 NA NA NA NA NA 0.754 NA 4.2177 1230 5 137426447 137426447 G A exonic WNT8A NA synonymous SNV WNT8A:NM_058244:exon6:c.G741A:p.A247A exonic ENSG00000061492 NA synonymous SNV ENSG00000061492:ENST00000504809:exon5:c.G795A:p.A265A,ENSG00000061492:ENST00000506684:exon5:c.G795A:p.A265A,ENSG00000061492:ENST00000361560:exon6:c.G741A:p.A247A,ENSG00000061492:ENST00000398754:exon6:c.G741A:p.A247A NA NA 5q31.2 NA NA NA NA rs6596422 0.47 0.47 0.463 0.469649 0.494 0.5843 0.4337 0.3185 0.5562 0.49 0.59 0.41 0.33 0.4815 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523236 NA NA 0.474095 0.33224 NA 0.464 NA 4.2170716 1230 10 115348916 115348916 G A UTR3 HABP2 NM_001177660:c.*788G>A,NM_004132:c.*788G>A NA NA UTR3 ENSG00000148702 ENST00000542051:c.*788G>A,ENST00000351270:c.*788G>A NA NA NA NA 10q25.3 NA NA NA NA rs10885478 0.09 0.09 0.081 0.0858626 0.1173 0.1042 0.072 0.0386 0.1084 0.11 0.11 0.07 0.04 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764652 NA NA NA NA NA 0.036 NA 4.2160334 1230 19 58005536 58005536 A G UTR3 ZNF419 NM_001098494:c.*78A>G,NM_001098496:c.*78A>G,NM_001098495:c.*78A>G,NM_001098493:c.*78A>G,NM_001098492:c.*78A>G,NM_001098491:c.*78A>G,NM_024691:c.*78A>G NA NA UTR3 ENSG00000105136 ENST00000426954:c.*78A>G,ENST00000442920:c.*78A>G,ENST00000424930:c.*78A>G,ENST00000347466:c.*78A>G,ENST00000415379:c.*78A>G,ENST00000221735:c.*78A>G NA NA NA NA 19q13.43 NA NA NA NA rs62126199 0.07 0.07 0.049 0.0820687 0.1173 0.003 0.1859 0.0045 0.1585 0.13 0.0035 0.12 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10058 NA NA NA NA NA 0.058 NA 4.2160334 1230 11 134251777 134251777 C A intronic B3GAT1 NA NA NA intronic ENSG00000109956 NA NA NA NA NA 11q25 Score=905;Name=V$YY1_01 NA NA NA rs729687 0.42 0.42 0.365 0.40595 0.3946 0.6677 0.5476 0.0507 0.5276 0.37 0.7 0.54 0.07 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025962 NA NA 0.389378 0.117052 NA 0.326 NA 4.216022 1230 19 47980153 47980153 G A exonic KPTN NA synonymous SNV KPTN:NM_007059:exon10:c.C906T:p.P302P exonic ENSG00000118162 NA synonymous SNV ENSG00000118162:ENST00000595554:exon8:c.C738T:p.P246P,ENSG00000118162:ENST00000338134:exon10:c.C906T:p.P302P,ENSG00000118162:ENST00000536339:exon11:c.C186T:p.P62P NA NA 19q13.32 NA NA NA NA rs2293424 0.4 0.4 0.368 0.346046 0.503 0.5427 0.3775 0.0159 0.4059 0.52 0.56 0.38 0.03 0.4752 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870513 NA NA 0.472629 0.097347 NA 0.268 NA 4.2158376 1230 3 96338557 96338557 G A intergenic LOC100287639,EPHA6 dist=936520;dist=194868 NA NA ncRNA_exonic ENSG00000218754 NA NA NA Score=752;Name=lod=1520 NA 3q11.2 NA NA NA NA rs11713201 0.67 0.67 0.687 0.666733 0.7843 0.7401 0.7233 0.3563 0.8497 0.78 0.75 0.73 0.38 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109562 NA NA NA NA NA 0.275 NA 4.2157 1230 11 117008946 117008946 T C intergenic SIK3,PAFAH1B2 dist=39953;dist=6054 NA NA ncRNA_exonic ENSG00000254851 NA NA NA Score=492;Name=lod=133 NA 11q23.3 NA NA NA NA rs504068 0.53 0.53 0.353 0.519369 0.7843 0.4048 0.6599 0.3684 0.4693 0.73 0.34 0.67 0.32 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599256 NA NA NA NA NA 0.486 NA 4.2157 1230 13 25780212 25780212 A C intergenic AMER2,MTMR6 dist=34355;dist=40129 NA NA ncRNA_exonic ENSG00000235315 NA NA NA Score=731;Name=lod=1241 NA 13q12.13 NA NA NA NA rs4565998 0.63 0.63 0.623 0.617612 0.7843 0.4296 0.683 0.5794 0.6452 0.8 0.42 0.68 0.59 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070674 NA NA NA NA NA 0.717 NA 4.2157 1230 21 42840580 42840580 T C intronic TMPRSS2 NA NA NA intronic ENSG00000184012 NA NA NA NA NA 21q22.3 NA NA Name=4 NA rs462321 0.57 0.57 0.591 0.578075 0.7843 0.2589 0.5418 0.6074 0.681 0.77 0.27 0.57 0.61 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548007 NA NA NA NA NA 0.703 NA 4.2157 1230 19 5208236 5208236 G A intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA Name=GR NA NA rs55727125 0.26 0.26 0.258 0.274161 0.2624 0.0556 0.3718 0.3797 0.2996 0.26 0.06 0.36 0.39 0.2656 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212324 NA NA 0.256512 0.315252 NA 0.188 NA 4.215488 1230 14 101411953 101411953 A G upstream SNORD113-9 NA NA NA ncRNA_intronic ENSG00000225746 NA NA NA NA NA 14q32.31 Score=977;Name=V$FOXO1_01 NA NA NA rs12433065 0.33 0.33 0.319 0.361422 0.3101 0.0526 0.4135 0.5968 0.3773 0.31 0.06 0.38 0.62 0.331 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517398 NA NA 0.310146 0.535388 NA 0.391 NA 4.2154206 1230 15 78211393 78211393 A T ncRNA_exonic LOC645752 NA NA NA ncRNA_exonic ENSG00000260776 NA NA NA NA NA 15q24.3 NA NA NA NA rs28595390 0.15 0.15 0.136 0.148363 0.2465 0.0526 0.1081 0.1936 0.1135 0.22 0.05 0.11 0.17 0.2049 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15637 NA NA NA NA NA NA NA 4.2152666 1230 20 17459905 17459905 G A intronic PCSK2 NA NA NA ncRNA_exonic ENSG00000232241 NA NA NA NA NA 20p12.1 NA NA NA NA rs3790337 0.13 0.13 0.126 0.11222 0.1183 0.1518 0.0893 0.121 0.0695 0.13 0.18 0.08 0.13 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315622 NA NA NA NA NA 0.101 NA 4.2150333 1230 12 66932832 66932832 T C intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA Name=c-Jun NA NA rs66522623 0.22 0.22 0.213 0.228435 0.2753 0.1508 0.1816 0.2655 0.2434 0.27 0.16 0.19 0.24 0.2387 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506025 NA NA 0.270976 0.264389 NA 0.29 NA 4.215024 1231 22 35590706 35590706 G A intergenic ISX,HMGXB4 dist=107326;dist=62739 NA NA ncRNA_exonic ENSG00000243453 NA NA NA Score=422;Name=lod=69 NA 22q12.3 NA NA NA NA rs3752596 0.54 0.54 0.488 0.508387 0.7853 0.3879 0.7435 0.1415 0.6769 0.79 0.4 0.73 0.16 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667103 NA NA NA NA NA 0.478 NA 4.2147 1231 8 144652281 144652281 T A intronic MROH6 NA NA NA intronic ENSG00000204839 NA NA NA NA NA 8q24.3 NA NA Name=2 NA rs11990325 0.24 0.24 0.239 0.279952 0.2525 0.2292 0.2291 0.2126 0.4877 0.26 0.24 0.25 0.2 0.2877 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.047773 NA NA 0.245288 0.202975 NA 0.275 NA 4.214512 1231 1 17046549 17046549 G A ncRNA_exonic ESPNP NA NA NA ncRNA_exonic ENSG00000268869 NA NA NA NA NA 1p36.13 NA NA NA NA rs1755332 0.45 0.45 0.44 0.00319489 0.002 0.003 0.0058 0.0053 NA 0.47 0.49 0.46 0.39 0.4503 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071923 NA NA NA NA NA 0.319 NA 4.2143666 1231 19 58929136 58929136 G A exonic ZNF584 NA synonymous SNV ZNF584:NM_173548:exon4:c.G1251A:p.K417K exonic ENSG00000171574 NA synonymous SNV ENSG00000171574:ENST00000306910:exon4:c.G1251A:p.K417K,ENSG00000171574:ENST00000593920:exon4:c.G1116A:p.K372K NA NA 19q13.43 NA NA NA NA rs3764534 0.51 0.51 0.531 0.500599 0.497 0.3254 0.379 0.7882 0.3824 0.49 0.32 0.42 0.81 0.4732 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122344 NA NA 0.482209 0.766455 ID=COSM1397324;OCCURENCE=1(large_intestine) 0.572 NA 4.2142576 1231 22 17434931 17434931 C T intergenic HSFY1P1,GAB4 dist=124706;dist=7896 NA NA intergenic ENSG00000253481,ENSG00000215568 dist=20038;dist=7895 NA NA Score=595;Name=lod=348 NA 22q11.1 NA NA NA NA rs8138892 0.1 0.1 0.077 0.0902556 0.1193 0.0198 0.1931 0.121 0.0184 0.12 0.03 0.18 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588625 NA NA NA NA NA 0.188 NA 4.2140334 1231 2 232035429 232035429 G A UTR3 PSMD1 NM_002807:c.*3G>A,NM_001191037:c.*3G>A NA NA UTR3 ENSG00000173692 ENST00000373635:c.*3G>A,ENST00000308696:c.*3G>A NA NA Score=594;Name=lod=347 NA 2q37.1 NA NA NA NA rs6749 0.55 0.55 0.55 0.579872 0.3678 0.619 0.3934 0.8828 0.4806 0.37 0.61 0.41 0.86 0.4283 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883522 NA NA 0.323256 0.804131 NA 0.58 NA 4.2139774 1231 3 122835210 122835210 A G intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA NA NA 3q21.1 NA Name=Pol2 NA NA rs836840 0.69 0.69 0.67 0.66893 0.7863 0.5208 0.7421 0.6876 0.6237 0.77 0.52 0.77 0.7 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351688 NA NA NA NA NA 0.761 NA 4.2137 1231 11 549959 549959 C T exonic LRRC56 NA synonymous SNV LRRC56:NM_198075:exon7:c.C384T:p.L128L exonic ENSG00000161328 NA synonymous SNV ENSG00000161328:ENST00000270115:exon7:c.C384T:p.L128L NA NA 11p15.5 Score=797;Name=V$ER_Q6 NA NA NA rs7942030 0.8 0.8 0.796 0.78115 0.8201 0.9196 0.8415 0.6203 0.773 0.82 0.91 0.81 0.63 0.812 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400543 NA NA 0.821237 0.652973 NA 0.659 NA 4.2133296 1231 1 92979354 92979354 A G exonic EVI5 NA synonymous SNV EVI5:NM_005665:exon18:c.T2292C:p.G764G exonic ENSG00000067208 NA synonymous SNV ENSG00000067208:ENST00000370331:exon18:c.T2292C:p.G764G,ENSG00000067208:ENST00000540033:exon18:c.T2292C:p.G764G,ENSG00000067208:ENST00000543509:exon19:c.T2325C:p.G775G NA NA 1p22.1 Score=811;Name=V$GFI1_01 NA NA NA rs6603979 0.89 0.89 0.906 0.920327 0.8072 0.9752 0.8905 0.9508 0.9601 0.81 0.97 0.86 0.95 0.852 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774577 NA NA 0.794186 0.924648 NA 0.826 NA 4.2132806 1231 15 40630913 40630913 C T intronic C15orf52 NA NA NA intronic ENSG00000188549 NA NA NA NA NA 15q15.1 NA Name=ZNF263 NA NA rs72733403 0.15 0.15 0.153 0.157748 0.2853 0.0407 0.1772 0.0983 0.2137 0.29 0.03 0.16 0.09 0.2292 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088639 NA NA 0.272514 0.110256 NA 0.304 NA 4.212986 1231 4 96256673 96256673 G A exonic UNC5C NA synonymous SNV UNC5C:NM_003728:exon2:c.C234T:p.P78P exonic ENSG00000182168 NA synonymous SNV ENSG00000182168:ENST00000453304:exon2:c.C234T:p.P78P,ENSG00000182168:ENST00000504962:exon2:c.C234T:p.P78P,ENSG00000182168:ENST00000506749:exon2:c.C234T:p.P78P,ENSG00000182168:ENST00000513796:exon2:c.C234T:p.P78P Score=655;Name=lod=614 NA 4q22.3 NA NA NA NA rs1843018 0.81 0.81 0.801 0.810104 0.8131 1 0.8545 0.5779 0.8937 0.82 1 0.84 0.57 0.8229 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122429 NA NA 0.817981 0.647753 NA 0.79 NA 4.2126856 1231 3 184072459 184072459 G A intronic CLCN2 NA NA NA intronic ENSG00000114859,ENSG00000145191 NA NA NA Score=571;Name=lod=280 NA 3q27.1 NA NA NA NA rs73189624 0.14 0.14 0.163 0.154553 0.2793 0.0456 0.1715 0.0666 0.2454 0.26 0.02 0.22 0.06 0.2224 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210495 NA NA 0.285764 0.087006 NA 0.304 NA 4.212536 1231 17 37202047 37202047 T G ncRNA_intronic LRRC37A11P NA NA NA ncRNA_intronic ENSG00000214553 NA NA NA NA NA 17q12 NA NA NA NA rs9911197 0.38 0.38 0.36 0.365415 0.4543 0.2153 0.4107 0.3933 0.3589 0.45 0.22 0.47 0.38 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482677 NA NA NA NA NA 0.391 NA 4.2123666 1231 21 15323631 15323631 C T ncRNA_intronic ANKRD20A11P NA NA NA ncRNA_intronic ENSG00000215559 NA NA NA NA NA 21q11.2 NA NA NA NA rs28715238 0.43 0.43 0.412 0.447284 0.4543 0.3899 0.536 0.3835 0.5225 0.46 0.38 0.5 0.39 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433274 NA NA NA NA NA 0.094 NA 4.2123666 1231 21 18938080 18938080 G T UTR3 CXADR NM_001207065:c.*275G>T,NM_001207064:c.*147G>T,NM_001207063:c.*147G>T,NM_001338:c.*70G>T NA NA UTR3 ENSG00000154639 ENST00000284878:c.*70G>T,ENST00000400166:c.*147G>T NA NA NA NA 21q21.1 NA NA NA NA rs1784913 0.08 0.08 0.08 0.086262 0.1213 0.002 0.1023 0.1316 0.0644 0.1 0.0017 0.11 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.571865 1.571865 NA NA NA NA 0.116 NA 4.2120334 1231 17 44788310 44788310 G A intronic NSF NA NA NA intronic ENSG00000073969 NA NA NA NA Name=Parkinson's disease,Ovarian cancer in BRCA1 mutation carriers 17q21.31 NA NA NA NA rs183211 0.41 0.41 0.409 0.36222 0.2584 0.5873 0.4323 0.3979 0.1391 0.25 0.63 0.4 0.42 0.2847 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846655 NA NA 0.244925 0.389431 NA 0.225 NA 4.211975 1231 6 514855 514855 G A intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA Name=8 NA rs2493012 0.78 0.78 0.76 0.767971 0.7883 0.9474 0.6801 0.5809 0.8773 0.78 0.97 0.74 0.6 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721609 NA NA NA NA NA 0.783 NA 4.2117 1231 10 63699895 63699895 A C intronic ARID5B NA NA NA intronic ENSG00000150347 NA NA NA NA NA 10q21.2 NA Name=MEF2A,Pol2-4H8 Name=117 NA rs7073837 0.64 0.64 0.65 0.585663 0.6064 0.6429 0.4942 0.7368 0.3661 0.62 0.65 0.52 0.76 0.5842 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.816403 NA NA 0.597791 0.72197 NA 0.652 NA 4.211609 1231 20 30135990 30135990 A G ncRNA_exonic PSIMCT-1 NA NA NA intronic ENSG00000101294 NA NA NA NA NA 20q11.21 NA NA NA NA rs1115713 0.2 0.2 0.205 0.196885 0.1223 0.001 0.1427 0.553 0.0327 0.12 NA 0.14 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523108 NA NA NA NA NA 0.181 NA 4.2110333 1231 19 54725995 54725995 G A exonic LILRB3 NA synonymous SNV LILRB3:NM_001081450:exon4:c.C363T:p.Y121Y,LILRB3:NM_006864:exon4:c.C363T:p.Y121Y exonic ENSG00000204577 NA synonymous SNV ENSG00000204577:ENST00000245620:exon4:c.C363T:p.Y121Y,ENSG00000204577:ENST00000346401:exon4:c.C363T:p.Y121Y,ENSG00000204577:ENST00000407860:exon4:c.C363T:p.Y121Y,ENSG00000204577:ENST00000414379:exon4:c.C363T:p.Y121Y,ENSG00000204577:ENST00000424807:exon4:c.C363T:p.Y121Y,ENSG00000204577:ENST00000445347:exon4:c.C363T:p.Y121Y,ENSG00000204577:ENST00000391750:exon5:c.C363T:p.Y121Y NA NA 19q13.42 NA NA NA NA rs61187720 0.71 0.71 0.676 0.673323 0.7018 0.7083 0.7046 0.7035 0.545 0.76 0.69 0.67 0.7 0.7539 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739081 NA NA NA NA ID=COSM1129724;OCCURENCE=1(prostate) 0.275 NA 4.2109666 1231 9 2811505 2811505 G A exonic KIAA0020 NA synonymous SNV KIAA0020:NM_014878:exon15:c.C1491T:p.H497H exonic ENSG00000080608 NA synonymous SNV ENSG00000080608:ENST00000397885:exon15:c.C1491T:p.H497H NA NA 9p24.2 NA NA NA NA rs2270888 0.4 0.4 0.384 0.413738 0.4742 0.496 0.3746 0.2035 0.5787 0.46 0.5 0.39 0.21 0.4817 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.336829 NA NA 0.5 0.258057 NA 0.29 NA 4.2107666 1231 14 24649835 24649835 T C intronic IPO4 NA NA NA intronic ENSG00000196497,ENSG00000259522 NA NA NA NA NA 14q12 NA Name=Pol2-4H8 NA NA rs2273911 0.58 0.58 0.598 0.594249 0.4076 0.748 0.3602 0.8064 0.5072 0.41 0.78 0.37 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317605 NA NA 0.381835 0.717486 NA 0.522 NA 4.210565 1231 22 43831056 43831056 C T exonic MPPED1 NA synonymous SNV MPPED1:NM_001044370:exon3:c.C327T:p.Y109Y exonic ENSG00000186732 NA synonymous SNV ENSG00000186732:ENST00000414469:exon2:c.C9T:p.Y3Y,ENSG00000186732:ENST00000334209:exon3:c.C327T:p.Y109Y,ENSG00000186732:ENST00000417669:exon3:c.C327T:p.Y109Y,ENSG00000186732:ENST00000443721:exon3:c.C327T:p.Y109Y,ENSG00000186732:ENST00000538182:exon3:c.C426T:p.Y142Y,ENSG00000186732:ENST00000542779:exon3:c.C327T:p.Y109Y NA NA 22q13.2 NA NA NA NA rs4331615 0.37 0.37 0.396 0.355431 0.4861 0.0873 0.3919 0.4206 0.3834 0.48 0.1 0.43 0.47 0.4492 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660092 NA NA 0.520991 0.409413 NA 0.428 NA 4.2103756 1231 1 111825883 111825883 T C ncRNA_intronic CHIAP2 NA NA NA ncRNA_intronic ENSG00000203878 NA NA NA NA NA 1p13.2 NA NA NA NA rs4406629 0.47 0.47 0.401 0.439896 0.4563 0.6954 0.6282 0.1573 0.408 0.45 0.66 0.61 0.16 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741953 NA NA NA NA NA 0.297 NA 4.2103666 1231 1 205568390 205568390 T A intronic MFSD4 NA NA NA intronic ENSG00000174514 NA NA NA NA NA 1q32.1 NA NA Name=15 NA rs2282450 0.4 0.4 0.386 0.44389 0.2157 0.6458 0.4251 0.4259 0.5082 0.23 0.61 0.36 0.45 0.3333 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.296465 1.296465 NA 0.240814 0.405129 NA 0.42 NA 4.210186 1231 9 133911598 133911598 A G exonic LAMC3 NA synonymous SNV LAMC3:NM_006059:exon4:c.A855G:p.A285A exonic ENSG00000050555 NA synonymous SNV ENSG00000050555:ENST00000361069:exon4:c.A855G:p.A285A NA NA 9q34.12 NA NA NA NA rs2275132 0.85 0.85 0.892 0.848243 0.8181 0.8343 0.853 0.9622 0.7362 0.81 0.82 0.84 0.95 0.806 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780975 NA NA 0.83239 0.947113 NA 0.812 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117481.2;CLNDSDB=.;CLNDSDBID=. 4.2101766 1231 18 5292030 5292030 A G exonic ZBTB14 NA synonymous SNV ZBTB14:NM_003409:exon3:c.T177C:p.T59T,ZBTB14:NM_001143823:exon4:c.T177C:p.T59T,ZBTB14:NM_001243702:exon4:c.T177C:p.T59T,ZBTB14:NM_001243704:exon4:c.T177C:p.T59T exonic ENSG00000198081 NA synonymous SNV ENSG00000198081:ENST00000400143:exon3:c.T177C:p.T59T,ENSG00000198081:ENST00000357006:exon4:c.T177C:p.T59T,ENSG00000198081:ENST00000578327:exon4:c.T177C:p.T59T,ENSG00000198081:ENST00000582135:exon4:c.T177C:p.T59T,ENSG00000198081:ENST00000582388:exon4:c.T177C:p.T59T Score=591;Name=lod=337 NA 18p11.31 NA NA NA NA rs620652 0.84 0.84 0.842 0.84345 0.8032 0.8254 0.8401 0.9251 0.7955 0.82 0.81 0.81 0.93 0.8255 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53409 NA NA 0.828256 0.924648 NA 0.928 NA 4.2097106 1231 14 103841018 103841018 A G intergenic EIF5,MARK3 dist=29657;dist=10683 NA NA ncRNA_exonic ENSG00000243904 NA NA NA Score=801;Name=lod=2389 NA 14q32.32 NA NA NA NA rs6575979 0.71 0.71 0.728 0.666933 0.7903 0.5655 0.7334 0.6649 0.6002 0.8 0.55 0.75 0.74 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170446 NA NA NA NA NA 0.688 NA 4.2097 1231 15 48541700 48541700 G A intronic SLC12A1 NA NA NA intronic ENSG00000074803 NA NA NA Score=478;Name=lod=117 NA 15q21.1 NA NA NA NA rs2279365 0.53 0.53 0.515 0.49401 0.7903 0.4355 0.6354 0.1475 0.6176 0.8 0.4 0.69 0.16 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200175 NA NA NA NA NA 0.507 NA 4.2097 1231 22 42072912 42072912 C A intronic NHP2L1 NA NA NA intronic ENSG00000100138 NA NA NA Score=544;Name=lod=216 NA 22q13.2 NA NA NA NA rs1807497 0.78 0.78 0.826 0.777756 0.7903 0.9087 0.5115 0.9175 0.6299 0.77 0.9 0.52 0.86 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407378 NA NA NA NA NA 0.833 NA 4.2097 1231 6 29068759 29068759 C A intergenic OR2B3,OR2J3 dist=13669;dist=10909 NA NA exonic ENSG00000204702 NA nonsynonymous SNV ENSG00000204702:ENST00000377171:exon1:c.C40A:p.L14I NA NA 6p22.1 NA NA NA NA rs3131087 0.71 0.71 0.715 0.71246 0.8191 0.6071 0.7161 0.6475 0.7965 0.84 0.58 0.7 0.67 0.8046 0.84 1 T . . . . . . 1.000 P . . 7.33 T -1.057 T 0.000 T 0.111 -1.962 0.007 -1.28 -0.831 0.382 5.341 -1.961588 NA 1 NA NA NA 0.754 NA 4.2096334 1231 11 61249383 61249383 C A exonic PPP1R32 NA synonymous SNV PPP1R32:NM_001170753:exon2:c.C102A:p.T34T,PPP1R32:NM_145017:exon2:c.C102A:p.T34T exonic ENSG00000162148 NA synonymous SNV ENSG00000162148:ENST00000338608:exon2:c.C102A:p.T34T,ENSG00000162148:ENST00000432063:exon2:c.C102A:p.T34T Score=469;Name=lod=107 NA 11q12.2 NA NA NA NA rs3019200 0.8 0.8 0.801 0.775559 0.826 0.9732 0.8458 0.5008 0.8415 0.82 0.97 0.85 0.52 0.8139 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132821 NA NA 0.817283 0.534514 NA 0.732 NA 4.2094836 1231 11 113270374 113270374 C T exonic ANKK1 NA synonymous SNV ANKK1:NM_178510:exon8:c.C1683T:p.Y561Y exonic ENSG00000170209 NA synonymous SNV ENSG00000170209:ENST00000303941:exon8:c.C1683T:p.Y561Y Score=374;Name=lod=44 NA 11q23.2 NA NA NA NA rs2734848 0.8 0.8 0.762 0.769369 0.8161 0.9514 0.8473 0.5242 0.8098 0.81 0.96 0.83 0.57 0.8205 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.418778 NA NA 0.820601 0.626072 NA 0.681 NA 4.2094656 1231 7 131866972 131866972 A G intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA Score=300;Name=lod=22 NA 7q32.3 NA NA NA NA rs3734983 0.28 0.28 0.245 0.276358 0.2614 0.2579 0.4207 0.2526 0.2403 0.26 0.26 0.39 0.25 0.2747 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558712 NA NA 0.254487 0.243062 NA 0.217 NA 4.209413 1231 9 136083580 136083580 T G exonic OBP2B NA synonymous SNV OBP2B:NM_014581:exon3:c.A217C:p.R73R exonic;splicing ENSG00000171102;ENSG00000171102 ENST00000372032:exon4:c.85-2A>C synonymous SNV ENSG00000171102:ENST00000372034:exon3:c.A217C:p.R73R,ENSG00000171102:ENST00000473737:exon3:c.A217C:p.R73R NA NA 9q34.2 NA NA NA NA rs2073870 0.7 0.7 0.762 0.73722 0.837 0.6607 0.8429 0.7481 0.6237 0.79 0.61 0.81 0.59 0.7843 0.84 . . . . . . . . 1.000 P . . . . . . . . . -0.279 2.664 0.93 -0.059 -0.862 6.188 -0.279128 NA NA 0.836008 0.763277 NA 0.42 NA 4.2093586 1231 10 96748893 96748893 C G UTR3 CYP2C9 NM_000771:c.*108C>G NA NA UTR3 ENSG00000138109 ENST00000260682:c.*108C>G NA NA NA NA 10q23.33 NA NA NA NA rs9332242 0.07 0.07 0.054 0.0479233 0.1243 0.001 0.0994 0.0083 0.0348 0.12 0.0035 0.12 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08992 NA NA NA NA NA 0.094 NA 4.2090334 1231 17 9756171 9756171 A T intronic GLP2R NA NA NA ncRNA_exonic ENSG00000265593 NA NA NA NA NA 17p13.1 NA NA NA NA rs8074914 0.25 0.25 0.223 0.276558 0.1243 0.2877 0.268 0.3805 0.2873 0.11 0.28 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077725 NA NA NA NA NA 0.29 NA 4.2090333 1231 6 90459454 90459454 G A exonic MDN1 NA synonymous SNV MDN1:NM_014611:exon25:c.C3423T:p.A1141A exonic ENSG00000112159 NA synonymous SNV ENSG00000112159:ENST00000439638:exon23:c.C3204T:p.A1068A,ENSG00000112159:ENST00000369393:exon25:c.C3423T:p.A1141A,ENSG00000112159:ENST00000428876:exon25:c.C3423T:p.A1141A Score=618;Name=lod=435 NA 6q15 NA NA NA NA rs4053618 0.88 0.88 0.885 0.845248 0.8131 0.9187 0.8703 0.9221 0.681 0.83 0.93 0.87 0.92 0.8248 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735502 NA NA 0.819884 0.912392 NA 0.833 NA 4.2088826 1231 4 106024361 106024361 A G intergenic CXXC4,TET2 dist=608303;dist=42671 NA NA ncRNA_exonic ENSG00000251473 NA NA NA Score=648;Name=lod=572 NA 4q24 NA NA NA NA rs7668143 0.89 0.89 0.898 0.858027 0.7913 0.9544 0.8213 0.9766 0.6933 0.79 0.96 0.84 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319114 NA NA NA NA NA 0.826 NA 4.2087 1231 6 160133957 160133957 G A intergenic SOD2,WTAP dist=19604;dist=14073 NA NA ncRNA_exonic ENSG00000220305 NA NA NA Score=601;Name=lod=371 NA 6q25.3 NA NA NA NA rs752779 0.72 0.72 0.717 0.743011 0.7913 0.5903 0.8689 0.6793 0.8476 0.8 0.57 0.86 0.68 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015424 NA NA NA NA NA 0.63 NA 4.2087 1231 3 42784216 42784216 A G ncRNA_intronic CCDC13-AS1 NA NA NA ncRNA_intronic ENSG00000173811 NA NA NA NA NA 3p22.1 NA NA NA NA rs12054446 0.48 0.48 0.482 0.501198 0.4583 0.4534 0.4006 0.5446 0.6074 0.46 0.47 0.46 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659567 NA NA NA NA NA 0.486 NA 4.2083666 1231 19 29873579 29873579 C A ncRNA_intronic LOC284395 NA NA NA ncRNA_intronic ENSG00000264515 NA NA NA NA NA 19q12 NA NA NA NA rs4804878 0.49 0.49 0.501 0.452875 0.4583 0.5625 0.389 0.4887 0.3313 0.47 0.57 0.38 0.5 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809237 NA NA NA NA NA 0.522 NA 4.2083666 1231 16 77323093 77323093 A G intronic ADAMTS18 NA NA NA ncRNA_intronic ENSG00000260922 NA NA NA NA NA 16q23.1 NA NA NA NA rs68045879 0.17 0.17 0.168 0.18151 0.1252 0.2202 0.1254 0.2632 0.1288 0.11 0.19 0.15 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067954 NA NA NA NA NA 0.181 NA 4.2081333 1231 14 106092152 106092152 G A intergenic TMEM121,ELK2AP dist=95613;dist=43762 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon1:c.C252T:p.N84N Score=251;Name=lod=14 NA 14q32.33 NA NA NA NA rs10137020 0.29 0.29 0.272 0.298323 0.4394 0.5188 0.2637 0.0265 0.318 0.43 0.34 0.28 0.04 0.3945 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.514754 NA NA 0.458118 0.096063 NA 0.174 NA 4.207982 1231 9 130210946 130210946 A G intronic RPL12 NA NA NA intronic ENSG00000197958 NA NA NA NA NA 9q33.3 NA Name=Pol2-4H8,Pol2,Pol2(phosphoS2) Name=60 NA rs2247573 0.55 0.55 0.538 0.522764 0.6322 0.3681 0.6455 0.5151 0.4928 0.64 0.37 0.61 0.56 0.5768 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128343 NA NA 0.583124 0.554795 NA 0.457 NA 4.207876 1231 4 104493864 104493864 A T intergenic CENPE,TACR3 dist=374298;dist=16761 NA NA ncRNA_exonic ENSG00000251571 NA NA NA Score=766;Name=lod=1724 NA 4q24 NA NA NA NA rs2588908 0.59 0.59 0.552 0.531749 0.7922 0.5139 0.6945 0.2572 0.5378 0.8 0.52 0.74 0.25 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112842 NA NA NA NA NA 0.565 NA 4.2078 1231 16 55813600 55813600 T C intergenic CES1P1,CES1 dist=4774;dist=23164 NA NA ncRNA_intronic ENSG00000228695 NA NA NA NA NA 16q12.2 NA Name=Pol2 NA NA rs28538101 0.63 0.63 0.643 0.654752 0.7922 0.3651 0.7032 0.7511 0.6472 0.73 0.35 0.71 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012713 NA NA NA NA NA 0.623 NA 4.2078 1231 6 144870040 144870040 T C intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA Name=GATA-2 NA NA rs1534442 0.36 0.36 0.364 0.370607 0.2515 0.5952 0.2147 0.3238 0.4356 0.24 0.62 0.24 0.33 0.3063 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148763 NA NA 0.234473 0.29301 NA 0.268 NA 4.207727 1231 3 42784630 42784630 A G ncRNA_intronic CCDC13-AS1 NA NA NA ncRNA_intronic ENSG00000173811 NA NA NA NA NA 3p22.1 NA NA NA NA rs12635736 0.5 0.5 0.49 0.523762 0.4592 0.4643 0.4078 0.6172 0.6074 0.46 0.48 0.47 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619284 NA NA NA NA NA 0.478 NA 4.2074666 1231 9 125391409 125391409 A G exonic OR1B1 NA synonymous SNV OR1B1:NM_001004450:exon1:c.T406C:p.L136L exonic ENSG00000171484 NA synonymous SNV ENSG00000171484:ENST00000304833:exon1:c.T406C:p.L136L NA NA 9q33.2 NA NA NA NA rs1536928 0.41 0.41 0.44 0.410144 0.504 0.3403 0.2954 0.3896 0.4949 0.51 0.37 0.33 0.37 0.4583 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764488 NA NA 0.497093 0.433954 NA 0.58 NA 4.2072736 1231 11 804212 804212 C A exonic PIDD NA synonymous SNV PIDD:NM_145886:exon2:c.G177T:p.L59L,PIDD:NM_145887:exon2:c.G177T:p.L59L exonic ENSG00000177595 NA synonymous SNV ENSG00000177595:ENST00000411829:exon1:c.G177T:p.L59L,ENSG00000177595:ENST00000524486:exon1:c.G177T:p.L59L,ENSG00000177595:ENST00000525028:exon1:c.G177T:p.L59L,ENSG00000177595:ENST00000347755:exon2:c.G177T:p.L59L NA NA 11p15.5 NA NA NA NA rs7104785 0.43 0.43 0.396 0.350839 0.493 0.2728 0.6354 0.292 0.1626 0.5 0.32 0.61 0.3 0.4548 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634018 NA NA 0.51198 0.316841 NA 0.167 NA 4.2068866 1231 4 104495075 104495075 C T intergenic CENPE,TACR3 dist=375509;dist=15550 NA NA ncRNA_exonic ENSG00000251571 NA NA NA Score=740;Name=lod=1356 NA 4q24 NA NA NA NA rs2588910 0.59 0.59 0.556 0.53115 0.7932 0.5129 0.6902 0.2542 0.5419 0.8 0.52 0.73 0.24 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476083 NA NA NA NA NA 0.565 NA 4.2068 1231 4 104495147 104495147 A C intergenic CENPE,TACR3 dist=375581;dist=15478 NA NA ncRNA_exonic ENSG00000251571 NA NA NA Score=641;Name=lod=538 NA 4q24 NA NA NA NA rs2757675 0.59 0.59 0.508 0.531749 0.7932 0.5149 0.6902 0.2534 0.544 0.8 0.53 0.73 0.24 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671429 NA NA NA NA NA 0.5 NA 4.2068 1231 18 41901924 41901924 A G intergenic SYT4,SETBP1 dist=1044309;dist=358214 NA NA ncRNA_exonic ENSG00000267573 NA NA NA Score=689;Name=lod=842 NA 18q12.3 NA NA NA NA rs7236406 0.71 0.71 0.698 0.66893 0.7932 0.8869 0.6643 0.382 0.7076 0.8 0.87 0.69 0.41 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517192 NA NA NA NA NA 0.681 NA 4.2068 1231 14 25101397 25101397 A G intronic GZMB NA NA NA ncRNA_intronic ENSG00000258657 NA NA NA NA NA 14q12 NA NA NA NA rs71405867 0.12 0.12 0.06 0.127796 0.1272 0.1736 0.1023 0.0779 0.1667 0.13 0.15 0.1 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269995 NA NA NA NA NA 0.123 NA 4.2061333 1231 13 25525544 25525544 T C ncRNA_exonic TPTE2P1 NA NA NA ncRNA_exonic ENSG00000253771 NA NA NA NA NA 13q12.13 NA NA NA NA rs41288282 0.2 0.2 0.194 0.244209 0.2406 0.0853 0.1614 0.3154 0.3742 0.22 0.09 0.2 0.29 0.2202 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347741 NA 0.54 NA NA NA 0.21 NA 4.2058666 1231 4 104495125 104495125 A G intergenic CENPE,TACR3 dist=375559;dist=15500 NA NA ncRNA_exonic ENSG00000251571 NA NA NA Score=309;Name=lod=24 NA 4q24 NA NA NA NA rs2757676 0.6 0.6 0.549 0.548323 0.7942 0.5139 0.696 0.3169 0.5389 0.8 0.52 0.74 0.29 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057659 NA NA NA NA NA 0.536 NA 4.2058 1231 8 12232269 12232269 T C ncRNA_intronic FAM66A NA NA NA ncRNA_exonic ENSG00000254423 NA NA NA NA NA 8p23.1 NA NA NA NA rs2684054 0.44 0.44 0.454 0.446486 0.4612 0.3522 0.3833 0.5688 0.408 0.44 0.34 0.39 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589032 NA NA NA NA NA 0.37 NA 4.2054666 1231 20 49620783 49620783 G T exonic KCNG1 NA synonymous SNV KCNG1:NM_002237:exon3:c.C1335A:p.I445I exonic ENSG00000026559 NA synonymous SNV ENSG00000026559:ENST00000371571:exon3:c.C1335A:p.I445I Score=585;Name=lod=319 NA 20q13.13 NA NA NA NA rs1054268 0.67 0.67 0.656 0.642372 0.8529 0.6558 0.8372 0.3048 0.7301 0.85 0.65 0.82 0.32 0.7679 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.262326 2.262326 NA 0.840465 0.405356 ID=COSM1412447;OCCURENCE=1(large_intestine) 0.572 NA 4.2054016 1231 11 128773413 128773413 T C intronic C11orf45,KCNJ5 NA NA NA intronic ENSG00000120457,ENSG00000174370 NA NA NA NA NA 11q24.3 NA Name=SUZ12 NA NA rs4937387 0.23 0.23 0.234 0.210264 0.2843 0.1042 0.1974 0.2451 0.2055 0.29 0.13 0.2 0.28 0.2441 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441045 NA NA 0.266232 0.279191 NA 0.196 NA 4.205368 1231 22 50211295 50211295 G A intronic BRD1 NA NA NA ncRNA_exonic ENSG00000236867 NA NA NA NA NA 22q13.33 NA NA NA NA rs138872 0.19 0.19 0.204 0.198083 0.1282 0.1409 0.1081 0.3782 0.1493 0.14 0.14 0.12 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.086929 NA NA NA NA NA 0.333 NA 4.2051333 1232 19 15881953 15881953 A G ncRNA_exonic CYP4F24P NA NA NA ncRNA_exonic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs4807986 0.64 0.64 0.613 0.651757 0.7614 0.3313 0.5922 0.795 0.7178 0.76 0.35 0.65 0.79 0.7003 0.79 1 T 0.0 B 0.002 B . . . . . . . . -0.955 T 0.000 T . -3.663 0.001 -0.283 -0.312 -0.155 2.652 -3.662979 NA 1 NA NA NA 0.674 NA 4.2049666 1232 X 15711209 15711209 C T ncRNA_intronic CA5BP1 NA NA NA ncRNA_intronic ENSG00000186312 NA NA NA NA NA Xp22.2 NA NA NA NA rs1996225 0.64 0.64 0.63831 NA NA NA NA NA NA 0.49 0.87 0.62 0.63 0.4617 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207974 NA NA NA NA NA 0.326 NA 4.2049666 1232 20 24993414 24993414 T C intronic ACSS1 NA NA NA intronic ENSG00000154930 NA NA NA NA NA 20p11.21 NA Name=c-Jun NA NA rs6132785 0.27 0.27 0.264 0.259984 0.2674 0.0645 0.2262 0.4826 0.1769 0.26 0.08 0.27 0.49 0.244 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04111 NA NA 0.283721 0.482297 NA 0.239 NA 4.204879 1232 12 11175087 11175087 G A exonic TAS2R19 NA synonymous SNV TAS2R19:NM_176888:exon1:c.C84T:p.A28A exonic ENSG00000212124 NA synonymous SNV ENSG00000212124:ENST00000390673:exon1:c.C84T:p.A28A NA NA 12p13.2 NA NA NA NA rs12313469 0.4 0.4 0.414 0.351837 0.5109 0.1944 0.4669 0.3601 0.2577 0.53 0.22 0.44 0.37 0.4456 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032566 NA NA 0.505349 0.379029 NA 0.413 NA 4.2048176 1232 7 87138645 87138645 A G exonic ABCB1 NA synonymous SNV ABCB1:NM_000927:exon27:c.T3435C:p.I1145I exonic ENSG00000085563 NA synonymous SNV ENSG00000085563:ENST00000543898:exon24:c.T3243C:p.I1081I,ENSG00000085563:ENST00000265724:exon27:c.T3435C:p.I1145I NA NA 7q21.12 NA NA NA NA rs1045642 0.6 0.6 0.619 0.604832 0.4821 0.6022 0.572 0.8502 0.4254 0.47 0.6 0.54 0.85 0.5034 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40149 NA NA 0.476395 0.772356 NA 0.587 NA 4.2047716 1232 4 15964763 15964763 C T UTR5 FGFBP2 NM_031950:c.-11G>A NA NA UTR5;UTR3 ENSG00000137441;ENSG00000007062 ENST00000259989:c.-11G>A;ENST00000503884:c.*361G>A NA NA NA NA 4p15.32 NA Name=CTCF NA NA rs4698432 0.3 0.3 0.255 0.345647 0.3618 0.2857 0.5043 0.1339 0.5644 0.34 0.25 0.48 0.16 0.3931 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550741 NA NA 0.373721 0.192692 NA 0.435 NA 4.2047124 1232 3 186370333 186370333 G T exonic FETUB NA synonymous SNV FETUB:NM_014375:exon7:c.G1062T:p.V354V exonic ENSG00000090512 NA synonymous SNV ENSG00000090512:ENST00000382134:exon5:c.G867T:p.V289V,ENSG00000090512:ENST00000539949:exon5:c.G618T:p.V206V,ENSG00000090512:ENST00000382136:exon6:c.G951T:p.V317V,ENSG00000090512:ENST00000265029:exon7:c.G1062T:p.V354V,ENSG00000090512:ENST00000450521:exon8:c.G1062T:p.V354V NA NA 3q27.3 NA NA NA NA rs1131364 0.63 0.63 0.663 0.655751 0.4592 0.746 0.5879 0.798 0.6207 0.46 0.73 0.62 0.78 0.5402 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627915 NA NA 0.462558 0.730595 NA 0.688 NA 4.2047086 1232 2 97712339 97712339 C A intergenic FAM178B,FAHD2B dist=60038;dist=36984 NA NA ncRNA_exonic ENSG00000270748 NA NA NA Score=333;Name=lod=30 NA 2q11.2 NA NA NA NA rs1257117 0.45 0.45 0.369 0.349241 0.7962 0.251 0.4611 0.0802 0.2751 0.78 0.29 0.51 0.09 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.978055 NA NA NA NA NA 0.08 NA 4.2038 1232 8 99208244 99208244 G T intronic NIPAL2 NA NA NA intronic ENSG00000104361 NA NA NA NA NA 8q22.2 NA Name=MafK_(ab50322) NA NA rs7010905 0.2 0.2 0.197 0.186701 0.2714 0.0823 0.2089 0.1672 0.2178 0.28 0.07 0.23 0.19 0.2491 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900836 NA NA 0.27589 0.211757 NA 0.196 NA 4.20361 1232 19 43441313 43441313 C T UTR5 PSG7 NM_001206650:c.-85G>A,NM_002783:c.-85G>A NA NA UTR5 ENSG00000221878 ENST00000406070:c.-85G>A,ENST00000446844:c.-85G>A NA NA NA NA 19q13.31 NA NA NA NA rs10410311 0.22 0.22 0.169 0.272963 0.1302 0.4028 0.1844 0.2549 0.3732 0.13 0.39 0.14 0.23 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017334 NA NA NA NA NA 0.225 NA 4.2031334 1232 2 172563922 172563922 G A intronic DYNC1I2 NA NA NA intronic ENSG00000077380,ENSG00000268821 NA NA NA Score=272;Name=lod=17 NA 2q31.1 NA NA NA NA rs312925 0.28 0.28 0.278 0.266973 0.2724 0.2034 0.2363 0.4024 0.1656 0.27 0.22 0.25 0.39 0.2484 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.092759 2.092759 NA 0.276347 0.344188 ID=COSN166335;OCCURENCE=1(NS) 0.37 NA 4.202853 1232 8 12236935 12236935 C A ncRNA_exonic LOC649352 NA NA NA ncRNA_exonic ENSG00000255556 NA NA NA NA NA 8p23.1 NA NA NA NA rs13273613 0.48 0.48 0.496 0.509385 0.4642 0.3542 0.3991 0.7814 0.4264 0.44 0.34 0.39 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223472 NA NA NA NA NA 0.072 NA 4.2024666 1232 X 200860 200860 T C exonic PLCXD1 NA synonymous SNV PLCXD1:NM_018390:exon2:c.T6C:p.G2G exonic ENSG00000182378 NA synonymous SNV ENSG00000182378:ENST00000448477:exon1:c.T6C:p.G2G,ENSG00000182378:ENST00000381657:exon2:c.T6C:p.G2G,ENSG00000182378:ENST00000381663:exon2:c.T6C:p.G2G,ENSG00000182378:ENST00000415337:exon2:c.T6C:p.G2G,ENSG00000182378:ENST00000430923:exon2:c.T6C:p.G2G,ENSG00000182378:ENST00000443019:exon2:c.T6C:p.G2G,ENSG00000182378:ENST00000447472:exon2:c.T6C:p.G2G,ENSG00000182378:ENST00000399012:exon3:c.T6C:p.G2G,ENSG00000182378:ENST00000429181:exon3:c.T6C:p.G2G,ENSG00000182378:ENST00000445062:exon3:c.T6C:p.G2G NA NA Xp22.33 NA NA NA NA rs9785927 0.79 0.79 0.75755 NA NA NA NA NA NA 0.73 0.78 0.71 0.94 0.7255 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446969 NA NA 0.738827 0.916024 NA 0.717 NA 4.2023396 1232 12 48884536 48884536 T C intronic C12orf54 NA NA NA ncRNA_intronic ENSG00000258121 NA NA NA NA NA 12q13.11 NA NA NA NA rs4237858 0.24 0.24 0.212 0.288938 0.0815 0.6548 0.3357 0.1543 0.274 0.08 0.55 0.26 0.11 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536356 NA NA 0.049654 0.132225 ID=COSN164237;OCCURENCE=1(NS) NA NA 4.2021793 1232 17 38153875 38153875 T A UTR3 PSMD3 NM_002809:c.*41T>A NA NA UTR3 ENSG00000108344 ENST00000264639:c.*41T>A NA NA Score=265;Name=lod=16 NA 17q21.1 NA NA NA NA rs7021 0.37 0.37 0.334 0.336262 0.3767 0.4494 0.3228 0.2708 0.2761 0.37 0.46 0.33 0.27 0.3711 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082083 NA NA 0.383903 0.299312 NA 0.326 NA 4.2016304 1232 17 79202956 79202956 T C exonic ENTHD2 NA synonymous SNV ENTHD2:NM_144679:exon12:c.A1350G:p.P450P exonic ENSG00000167302 NA synonymous SNV ENSG00000167302:ENST00000300714:exon12:c.A1350G:p.P450P,ENSG00000167302:ENST00000374769:exon13:c.A1098G:p.P366P NA NA 17q25.3 NA NA NA NA rs2048057 0.46 0.46 0.38 0.460863 0.4682 0.6756 0.6282 0.0703 0.6411 0.47 0.69 0.61 0.09 0.518 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145095 NA NA 0.479535 0.137313 ID=COSM1387240;OCCURENCE=1(large_intestine) 0.355 NA 4.2009316 1232 8 23198732 23198732 C A ncRNA_intronic LOC100507156 NA NA NA ncRNA_exonic ENSG00000253837 NA NA NA NA NA 8p21.3 NA NA NA NA rs11781891 0.14 0.14 0.135 0.138379 0.163 0.0615 0.2478 0.1672 0.0757 0.17 0.06 0.22 0.14 0.142 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895788 NA NA 0.160814 0.155924 NA 0.138 NA 4.2008526 1232 6 7481928 7481928 T C intergenic RIOK1,DSP dist=63658;dist=59942 NA NA ncRNA_exonic ENSG00000233503 NA NA NA Score=831;Name=lod=3174 NA 6p24.3 NA NA NA NA rs2763122 0.76 0.76 0.729 0.767372 0.7992 0.8244 0.8689 0.5356 0.9172 0.79 0.83 0.85 0.55 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223909 NA NA NA NA NA 0.739 NA 4.2008 1232 7 53256158 53256158 T C intergenic POM121L12,FLJ45974 dist=151540;dist=467044 NA NA ncRNA_exonic ENSG00000227344 NA NA NA Score=564;Name=lod=262 NA 7p12.1 NA NA NA NA rs10277601 0.9 0.9 0.901 0.911142 0.7992 0.9603 0.8718 0.9841 0.9049 0.8 0.97 0.87 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358174 NA NA NA NA NA 0.949 NA 4.2008 1232 8 12237901 12237901 G C ncRNA_intronic FAM66A NA NA NA ncRNA_intronic ENSG00000227888 NA NA NA NA NA 8p23.1 NA NA NA NA rs2739966 0.45 0.45 0.462 0.460863 0.4662 0.3542 0.3963 0.6127 0.4059 0.44 0.34 0.41 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892495 NA NA NA NA NA 0.377 NA 4.2004666 1232 4 119944611 119944611 G T exonic SYNPO2 NA synonymous SNV SYNPO2:NM_001128933:exon2:c.G132T:p.G44G,SYNPO2:NM_001128934:exon2:c.G132T:p.G44G,SYNPO2:NM_133477:exon2:c.G132T:p.G44G exonic ENSG00000172403 NA synonymous SNV ENSG00000172403:ENST00000307142:exon2:c.G132T:p.G44G,ENSG00000172403:ENST00000429713:exon2:c.G132T:p.G44G,ENSG00000172403:ENST00000434046:exon2:c.G132T:p.G44G,ENSG00000172403:ENST00000448416:exon2:c.G132T:p.G44G NA NA 4q26 NA NA NA NA rs1459058 0.41 0.41 0.375 0.411941 0.503 0.4524 0.4784 0.1906 0.5286 0.5 0.44 0.5 0.16 0.4661 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900133 NA NA 0.497209 0.231049 NA 0.457 NA 4.2003576 1232 20 47865372 47865372 G A exonic ZNFX1 NA synonymous SNV ZNFX1:NM_021035:exon14:c.C4189T:p.L1397L exonic ENSG00000124201 NA synonymous SNV ENSG00000124201:ENST00000371752:exon14:c.C4189T:p.L1397L,ENSG00000124201:ENST00000396105:exon14:c.C4189T:p.L1397L NA NA 20q13.13 NA NA Name=2 NA rs238208 0.78 0.78 0.797 0.778355 0.84 0.621 0.7017 0.9425 0.7096 0.84 0.6 0.74 0.93 0.7909 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.38567 NA NA 0.835698 0.918747 NA 0.775 NA 4.2000686 1232 12 52627215 52627215 A G exonic KRT7 NA synonymous SNV KRT7:NM_005556:exon1:c.A135G:p.S45S exonic ENSG00000135480 NA synonymous SNV ENSG00000135480:ENST00000331817:exon1:c.A135G:p.S45S NA NA 12q13.13 NA Name=Pol2 NA NA rs7308888 0.88 0.88 0.873 0.888778 0.8191 0.9048 0.8473 0.9781 0.8528 0.83 0.91 0.79 0.98 0.826 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.15516 2.15516 NA 0.821642 0.94811 NA 0.232 NA 4.1999246 1232 19 36033825 36033825 G A ncRNA_exonic LOC100506469 NA NA NA ncRNA_exonic ENSG00000236144 NA NA NA NA NA 19q13.12 NA NA NA NA rs2293681 0.08 0.08 0.072 0.0840655 0.162 0.0198 0.0965 0.0363 0.1258 0.15 0.02 0.11 0.04 0.1335 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123065 NA NA 0.171279 0.058783 NA 0.051 NA 4.1998876 1232 9 15468480 15468480 T C intronic PSIP1 NA NA NA intronic ENSG00000164985 NA NA NA NA NA 9p22.3 NA Name=Pol2 NA NA rs4741507 0.72 0.72 0.674 0.634984 0.8002 0.7649 0.8602 0.3419 0.5675 0.81 0.79 0.88 0.38 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642838 NA NA NA NA NA 0.667 NA 4.1998 1232 13 114538460 114538460 C T ncRNA_intronic GAS6-AS1 NA NA NA ncRNA_intronic ENSG00000233695 NA NA NA NA NA 13q34 NA NA NA NA rs7331124 0.11 0.11 0.095 0.0848642 0.1829 0.006 0.1081 0.0908 0.0409 0.18 0.01 0.13 0.09 0.1234 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357293 NA NA 0.160573 0.097127 NA 0.152 NA 4.1997936 1232 19 58326001 58326001 A G intronic ZNF552 NA NA NA exonic ENSG00000178935 NA synonymous SNV ENSG00000178935:ENST00000596248:exon1:c.T111C:p.C37C NA NA 19q13.43 NA Name=Pol2(b),HA-E2F1,ZNF263 NA NA rs2303817 0.61 0.61 0.604 0.575679 0.5328 0.6498 0.6239 0.6702 0.3814 0.54 0.67 0.61 0.66 0.5785 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092478 NA NA 0.522313 0.628613 NA 0.478 NA 4.1997203 1232 12 13248445 13248445 C A intronic GSG1 NA NA NA intronic ENSG00000084444,ENSG00000111305 NA NA NA NA NA 12p13.1 NA Name=MafK_(ab50322),ZNF263,MafF_(M8194),MafK_(SC-477) NA NA rs2291396 0.27 0.27 0.263 0.239417 0.3897 0.2361 0.2738 0.0295 0.3476 0.4 0.27 0.29 0.05 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37162 NA NA 0.410748 0.084538 NA 0.246 NA 4.199552 1232 12 124099704 124099704 G C intronic DDX55 NA NA NA intronic ENSG00000111364 NA NA NA NA NA 12q24.31 NA Name=CTCF NA NA rs35708602 0.24 0.24 0.257 0.252796 0.2664 0.0159 0.2205 0.447 0.2434 0.27 0.02 0.21 0.47 0.2581 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578132 NA NA 0.276279 0.414889 NA 0.232 NA 4.199221 1232 11 18267112 18267112 A G intronic SAA2,SAA2-SAA4 NA NA NA ncRNA_intronic ENSG00000255071 NA NA NA NA NA 11p15.1 NA NA Name=6 NA rs2445173 0.46 0.46 0.452 0.444888 0.3797 0.7887 0.3501 0.329 0.3814 0.39 0.79 0.35 0.29 0.3915 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36413 NA NA 0.363266 0.374943 NA 0.217 NA 4.1988673 1232 3 111860222 111860222 A G intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA Name=3 NA rs1492480 0.42 0.42 0.404 0.413938 0.4135 0.4226 0.4424 0.3548 0.4652 0.42 0.48 0.45 0.36 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019342 NA NA 0.38805 0.320087 NA 0.399 NA 4.19845 1232 1 207818719 207818719 G A intronic CR1L NA NA NA ncRNA_intronic ENSG00000244703 NA NA NA NA NA 1q32.2 NA Name=E2F6_(H-50) NA NA rs11118237 0.31 0.31 0.273 0.292532 0.3767 0.3313 0.2896 0.1785 0.3221 0.38 0.29 0.33 0.2 0.358 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431372 NA NA 0.400326 0.218112 NA 0.21 NA 4.1983073 1232 12 121438844 121438844 T C intronic HNF1A NA NA NA ncRNA_exonic ENSG00000271769 NA NA NA NA Name=N-glycan levels 12q24.31 NA NA NA NA rs735396 0.37 0.37 0.35 0.360224 0.3777 0.4802 0.3963 0.1263 0.5092 0.37 0.52 0.42 0.14 0.3884 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.289082 1.289082 NA 0.368953 0.141852 NA 0.319 NA 4.1982803 1232 6 133844137 133844137 C A intronic EYA4 NA NA NA ncRNA_intronic ENSG00000227954 NA NA NA NA NA 6q23.2 NA NA NA NA rs41286206 0.15 0.15 0.125 0.154752 0.1352 0.131 0.1153 0.211 0.1513 0.14 0.13 0.12 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054667 NA NA NA NA NA 0.196 NA 4.1981333 1232 12 29617736 29617736 C T ncRNA_exonic LOC101055625 NA NA NA intronic ENSG00000187950,ENSG00000257599 NA NA NA NA NA 12p11.22 NA NA NA NA rs3741751 0.16 0.16 0.156 0.182109 0.1352 0.0853 0.1023 0.3585 0.1483 0.14 0.1 0.08 0.33 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168791 NA NA NA NA NA 0.254 NA 4.1981333 1232 2 113875631 113875631 T C intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA Name=Pol2 NA NA rs16065 0.18 0.18 0.145 0.185703 0.2903 0.1091 0.3213 0.0174 0.2883 0.29 0.09 0.31 0.02 0.2448 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648969 NA NA 0.26686 0.051748 NA 0.239 NA 4.19804 1232 8 25890549 25890549 T C intronic EBF2 NA NA NA intronic ENSG00000221818 NA NA NA NA NA 8p21.2 Score=754;Name=V$STAT5A_02 NA NA NA rs7826952 0.35 0.35 0.336 0.330671 0.2694 0.3214 0.3617 0.4743 0.1871 0.26 0.31 0.33 0.51 0.289 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739704 NA NA 0.243719 0.441327 NA 0.333 NA 4.197881 1232 17 72349067 72349067 C T exonic KIF19 NA synonymous SNV KIF19:NM_153209:exon15:c.C2088T:p.S696S exonic ENSG00000196169 NA synonymous SNV ENSG00000196169:ENST00000389916:exon15:c.C2088T:p.S696S NA NA 17q25.1 NA NA NA NA rs2280108 0.37 0.37 0.34 0.330471 0.5109 0.3988 0.4409 0.0287 0.4039 0.51 0.42 0.44 0.03 0.4491 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312406 NA NA 0.509095 0.105002 NA 0.391 NA 4.1975716 1232 19 10267077 10267077 T C exonic DNMT1 NA synonymous SNV DNMT1:NM_001379:exon17:c.A1341G:p.P447P,DNMT1:NM_001130823:exon18:c.A1389G:p.P463P exonic ENSG00000130816 NA synonymous SNV ENSG00000130816:ENST00000340748:exon17:c.A1341G:p.P447P,ENSG00000130816:ENST00000540357:exon17:c.A1341G:p.P447P,ENSG00000130816:ENST00000359526:exon18:c.A1389G:p.P463P NA NA 19p13.2 NA NA NA NA rs2228611 0.54 0.54 0.523 0.533946 0.4612 0.6488 0.4539 0.5204 0.5654 0.46 0.65 0.47 0.57 0.5188 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055669 NA NA 0.489302 0.49478 NA 0.623 NA 4.1973646 1232 19 45213755 45213755 A G intronic CEACAM16 NA NA NA ncRNA_intronic ENSG00000266903 NA NA NA NA NA 19q13.32 NA NA NA NA rs143934888 0.02 0.02 0.016 0.0225639 0.0467 NA 0.0245 0.0015 0.0481 0.04 NA 0.02 0.002 0.0424 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876184 NA NA 0.047052 0.008772 NA 0.022 NA 4.1971813 1232 11 4566711 4566711 C T exonic OR52M1 NA synonymous SNV OR52M1:NM_001004137:exon1:c.C291T:p.D97D exonic ENSG00000197790 NA synonymous SNV ENSG00000197790:ENST00000360213:exon1:c.C291T:p.D97D NA NA 11p15.4 NA NA NA NA rs2709182 0.43 0.43 0.457 0.4373 0.492 0.2639 0.3444 0.5174 0.5174 0.48 0.29 0.4 0.53 0.4594 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.302649 NA NA 0.518148 0.504998 NA 0.399 NA 4.1971186 1232 8 6735399 6735399 C T UTR5 DEFB1 NM_005218:c.-20G>A NA NA ncRNA_UTR5 ENSG00000164825 NA NA NA NA NA 8p23.1 NA Name=STAT3,p300_(N-15),TBP,AP-2gamma,GTF2F1_(RAP-74),CEBPB NA NA rs11362 0.4 0.4 0.376 0.396565 0.4384 0.4315 0.438 0.2995 0.4192 0.45 0.4 0.43 0.32 0.4254 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329062 NA NA 0.439302 0.315252 ID=COSN168267;OCCURENCE=1(large_intestine),2(endometrium) 0.464 NA 4.196898 1232 19 21838830 21838830 A C intergenic ZNF429,ZNF100 dist=117751;dist=68013 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA Name=ZNF274,KAP1 NA NA rs10422804 0.79 0.79 0.735 0.773562 0.8032 0.8958 0.7839 0.5817 0.8691 0.81 0.88 0.81 0.63 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.403973 NA 1 NA NA NA 0.848 NA 4.1968 1232 15 42691664 42691664 C G intronic CAPN3 NA NA NA ncRNA_intronic ENSG00000258461 NA NA NA NA NA 15q15.1 NA NA NA NA rs3743003 0.12 0.12 0.13 0.150559 0.0308 0.0655 0.0548 0.4077 0.0818 0.03 0.06 0.06 0.37 0.0661 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648302 NA NA 0.03966 0.328416 NA 0.145 NA 4.1967733 1232 22 24964128 24964128 T C exonic SNRPD3 NA synonymous SNV SNRPD3:NM_004175:exon3:c.T303C:p.A101A exonic ENSG00000100028 NA synonymous SNV ENSG00000100028:ENST00000215829:exon3:c.T303C:p.A101A,ENSG00000100028:ENST00000402849:exon3:c.T303C:p.A101A,ENSG00000100028:ENST00000404603:exon3:c.T303C:p.A101A Score=536;Name=lod=202 NA 22q11.23 NA NA NA NA rs4597 0.75 0.75 0.722 0.681709 0.8539 0.8522 0.7925 0.4191 0.6053 0.86 0.83 0.79 0.46 0.7827 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.397045 1.397045 NA 0.833721 0.502724 NA 0.703 NA 4.1963456 1232 6 30166935 30166935 G A UTR5 TRIM26 NM_003449:c.-55C>T NA NA UTR5 ENSG00000234127 ENST00000454678:c.-55C>T NA NA NA NA 6p22.1 NA NA NA NA rs2072107 0.12 0.12 0.111 0.126997 0.1372 0.1508 0.0922 0.0386 0.2362 0.15 0.17 0.1 0.04 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320721 NA NA NA NA NA 0.087 NA 4.1961334 1232 9 96714981 96714981 G A intronic BARX1 NA NA NA intronic ENSG00000131668 NA NA NA NA NA 9q22.32 NA Name=SUZ12 NA NA rs12684081 0.19 0.19 0.153 0.176518 0.2813 0.0933 0.3127 0.0809 0.1871 0.29 0.07 0.27 0.1 0.2447 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.851956 1.851956 NA 0.278023 0.123241 NA 0.145 NA 4.195977 1232 4 70146704 70146704 G A exonic UGT2B28 NA synonymous SNV UGT2B28:NM_001207004:exon1:c.G486A:p.A162A,UGT2B28:NM_053039:exon1:c.G486A:p.A162A exonic ENSG00000135226 NA synonymous SNV ENSG00000135226:ENST00000335568:exon1:c.G486A:p.A162A,ENSG00000135226:ENST00000511240:exon1:c.G486A:p.A162A NA NA 4q13.2 NA NA NA NA rs7689398 0.4 0.4 0.377 0.367812 0.4771 0.3829 0.4496 0.2345 0.362 0.52 0.39 0.45 0.21 0.4828 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303447 NA NA 0.510985 0.3161 NA 0.333 NA 4.1957816 1232 3 112709828 112709828 C G UTR5 GTPBP8 NM_014170:c.-19C>G,NM_138485:c.-19C>G NA NA UTR5 ENSG00000163607 ENST00000383678:c.-19C>G NA NA NA NA 3q13.2 NA Name=TAF7_(SQ-8),YY1_(C-20),E2F6,Pol2-4H8,ZNF263,Pol2,Ini1,TCF4,YY1,E2F4,GABP,E2F6_(H-50),TAF1,Znf143_(16618-1-AP),TBP,GTF2F1_(RAP-74),CTCF,Nrf1,PAX5-C20,c-Myc,HEY1,ELF1_(SC-631) Name=148 NA rs2272393 0.5 0.5 0.416 0.472644 0.7227 0.3353 0.7161 0.1717 0.591 0.73 0.34 0.7 0.17 0.6744 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074633 NA NA 0.740493 0.285047 NA 0.478 NA 4.1957404 1233 5 173907351 173907351 A G intergenic HMP19,MSX2 dist=371169;dist=244224 NA NA ncRNA_intronic ENSG00000249306 NA NA NA Score=417;Name=lod=66 NA 5q35.2 NA NA NA NA rs1827287 0.9 0.9 0.881 0.914736 0.8052 1 0.902 0.9418 0.9121 0.81 1 0.88 0.93 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041948 NA NA NA NA NA 0.877 NA 4.1948 1233 12 66039979 66039979 G C intergenic MSRB3,RPSAP52 dist=179292;dist=111821 NA NA ncRNA_exonic ENSG00000213344 NA NA NA Score=620;Name=lod=441 NA 12q14.3 NA NA NA NA rs2468383 0.53 0.53 0.516 0.503195 0.8052 0.4444 0.5807 0.1785 0.637 0.8 0.45 0.58 0.2 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.964362 1.964362 NA NA NA NA 0.493 NA 4.1948 1233 19 8032680 8032680 C T intronic ELAVL1 NA NA NA intronic ENSG00000066044 NA NA NA Score=703;Name=lod=958 NA 19p13.2 NA NA NA NA rs1077340 0.23 0.23 0.235 0.202476 0.2982 0.0734 0.1628 0.3321 0.09 0.31 0.08 0.17 0.34 0.2333 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.632402 1.632402 NA 0.273837 0.330154 NA 0.261 NA 4.194663 1233 16 31404571 31404571 T C upstream ITGAD NA NA NA upstream ENSG00000156886 NA NA NA NA NA 16p11.2 NA NA Name=3 NA rs8050500 0.51 0.51 0.486 0.492612 0.4722 0.628 0.4568 0.4682 0.4325 0.47 0.64 0.46 0.45 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.624621 1.624621 NA NA NA NA 0.391 NA 4.1944666 1233 11 534332 534332 G A UTR5 HRAS NM_176795:c.-10C>T,NM_005343:c.-10C>T,NM_001130442:c.-10C>T NA NA UTR5 ENSG00000174775 ENST00000493230:c.-10C>T,ENST00000397596:c.-10C>T,ENST00000397594:c.-10C>T,ENST00000417302:c.-10C>T,ENST00000451590:c.-10C>T,ENST00000311189:c.-10C>T NA NA NA NA 11p15.5 NA NA NA NA rs41294870 0.02 0.02 0.013 0.0357428 0.0457 NA 0.0317 0.0113 0.0982 0.04 NA 0.05 0.01 0.0475 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115301 NA NA 0.046174 0.012739 NA 0.08 NA 4.1939594 1233 9 101258803 101258803 G A intronic GABBR2 NA NA NA intronic ENSG00000136928 NA NA NA Score=497;Name=lod=140 NA 9q22.33 NA NA NA NA rs16916507 0.21 0.21 0.242 0.233427 0.2734 0.0357 0.1441 0.3744 0.2689 0.28 0.04 0.18 0.31 0.2514 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.704284 1.704284 NA 0.281512 0.348616 NA 0.333 NA 4.193688 1233 22 50439626 50439626 G A UTR5 IL17REL NM_001001694:c.-7C>T NA NA UTR5 ENSG00000188263 ENST00000341280:c.-7C>T,ENST00000389983:c.-7C>T NA NA NA NA 22q13.33 NA NA NA NA rs9617098 0.01 0.01 0.01 0.0091853 0.0298 NA 0.0159 0.003 0.001 0.03 NA 0.02 0.002 0.0557 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173903 NA NA 0.054753 0.01254 NA 0.101 NA 4.1930804 1233 17 14673431 14673431 C A intergenic HS3ST3B1,CDRT7 dist=423939;dist=260861 NA NA ncRNA_exonic ENSG00000205325 NA NA NA NA NA 17p12 NA Name=STAT3,STAT1 NA NA rs72815721 0.32 0.32 0.3 0.291733 0.4026 0.37 0.3559 0.0628 0.3609 0.41 0.37 0.39 0.07 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10331 NA NA 0.404463 0.12789 NA 0.304 NA 4.192937 1233 8 116599199 116599199 T G intronic TRPS1 NA NA NA intronic ENSG00000104447 NA NA NA NA Name=HDL cholesterol 8q23.3 NA Name=CTCF NA NA rs2293889 0.75 0.75 0.753 0.771366 0.5835 0.8264 0.745 0.9554 0.6779 0.59 0.83 0.68 0.95 0.6503 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141148 NA NA 0.573368 0.884865 NA 0.804 NA 4.192832 1233 5 51227527 51227527 T C intergenic ISL1,PELO dist=536964;dist=856247 NA NA ncRNA_exonic ENSG00000249270 NA NA NA Score=366;Name=lod=41 NA 5q11.2 NA NA NA NA rs10940148 0.6 0.6 0.558 0.577476 0.8072 0.4851 0.7334 0.2678 0.7444 0.8 0.5 0.73 0.32 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043804 NA NA NA NA ID=COSN167466;OCCURENCE=1(large_intestine) 0.572 NA 4.1928 1233 7 36345194 36345194 G A intergenic EEPD1,KIAA0895 dist=4042;dist=18565 NA NA upstream ENSG00000234457 NA NA NA NA NA 7p14.2 NA Name=E2F6_(H-50) NA NA rs4723511 0.29 0.29 0.244 0.302316 0.3072 0.3274 0.2954 0.1263 0.5143 0.33 0.35 0.28 0.15 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760959 NA NA NA NA NA 0.174 NA 4.1928 1233 1 16890672 16890672 G A exonic NBPF1 NA unknown UNKNOWN exonic ENSG00000219481 NA synonymous SNV ENSG00000219481:ENST00000430580:exon29:c.C3186T:p.G1062G NA NA 1p36.13 NA NA NA NA rs2419525 NA NA 0.479 0.546126 0.5885 0.5169 0.5591 0.5091 0.5736 NA NA NA NA 0.5522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.210085 NA NA NA NA NA NA NA 4.1926333 1233 14 77751925 77751925 C T exonic POMT2 NA synonymous SNV POMT2:NM_013382:exon13:c.G1383A:p.R461R exonic ENSG00000009830 NA synonymous SNV ENSG00000009830:ENST00000261534:exon13:c.G1383A:p.R461R Score=621;Name=lod=444 NA 14q24.3 NA NA NA NA rs2270419 0.87 0.87 0.892 0.858227 0.8469 0.9534 0.7594 0.882 0.8098 0.84 0.96 0.75 0.88 0.8208 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318746 1.318746 NA 0.806512 0.86995 NA 0.913 NA 4.1924546 1233 19 10449392 10449392 A G exonic ICAM3 NA synonymous SNV ICAM3:NM_002162:exon2:c.T309C:p.S103S exonic ENSG00000076662 NA synonymous SNV ENSG00000076662:ENST00000160262:exon2:c.T309C:p.S103S,ENSG00000076662:ENST00000589261:exon2:c.T78C:p.S26S,ENSG00000076662:ENST00000589249:exon3:c.T78C:p.S26S,ENSG00000076662:ENST00000590569:exon3:c.T276C:p.S92S NA NA 19p13.2 NA NA Name=3 NA rs2304240 0.84 0.84 0.846 0.828275 0.8231 0.8254 0.6671 0.9372 0.8037 0.83 0.82 0.73 0.96 0.8173 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541891 NA NA 0.83407 0.912846 NA 0.848 NA 4.1921966 1233 3 10140696 10140696 A G UTR3 FANCD2 NM_033084:c.*62A>G NA NA UTR3 ENSG00000144554 ENST00000287647:c.*62A>G NA NA NA NA 3p25.3 NA NA NA NA rs7647987 0.23 0.23 0.233 0.241214 0.1412 0.0675 0.196 0.5159 0.184 0.15 0.1 0.2 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431856 NA NA NA NA NA 0.37 NA 4.1921334 1233 22 18075263 18075263 T C UTR3 ATP6V1E1 NM_001039367:c.*177A>G,NM_001039366:c.*177A>G,NM_001696:c.*177A>G NA NA UTR3 ENSG00000131100 ENST00000253413:c.*177A>G,ENST00000399796:c.*177A>G,ENST00000399798:c.*177A>G NA NA NA NA 22q11.21 NA NA NA NA rs3532 0.09 0.09 0.069 0.0704872 0.1412 0.0605 0.1254 0.0061 0.0562 0.15 0.07 0.14 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526907 NA NA NA NA NA 0.116 NA 4.1921334 1233 3 129822950 129822950 A G ncRNA_intronic FAM86HP NA NA NA ncRNA_exonic ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs12495527 0.42 0.42 0.382 0.427716 0.4751 0.4117 0.4107 0.3585 0.501 0.46 0.39 0.43 0.36 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188111 NA NA NA NA NA 0.319 NA 4.1915666 1233 14 104378852 104378852 G A UTR3 C14orf2 NM_001127393:c.*151C>T,NM_004894:c.*151C>T NA NA UTR3 ENSG00000156411 ENST00000286953:c.*151C>T,ENST00000554880:c.*151C>T,ENST00000555030:c.*183C>T,ENST00000414262:c.*151C>T,ENST00000553430:c.*1360C>T NA NA NA NA 14q32.33 NA NA NA NA rs8095 0.06 0.06 0.055 0.0479233 0.1421 0.002 0.0605 0.0091 0.0419 0.15 0.0035 0.05 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252115 NA NA NA NA NA 0.087 NA 4.1912334 1233 22 43172489 43172489 G A intergenic A4GALT,ARFGAP3 dist=55613;dist=20043 NA NA ncRNA_exonic ENSG00000234009 NA NA NA Score=822;Name=lod=2930 NA 22q13.2 NA NA NA NA rs2413717 0.86 0.86 0.854 0.877396 0.8091 0.9901 0.8444 0.8585 0.8804 0.82 0.99 0.82 0.82 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.653978 1.653978 NA NA NA NA 0.87 NA 4.1909 1233 2 202025621 202025621 A G exonic CFLAR NA synonymous SNV CFLAR:NM_001202515:exon5:c.A525G:p.P175P,CFLAR:NM_001202516:exon7:c.A1155G:p.P385P,CFLAR:NM_001202518:exon7:c.A972G:p.P324P,CFLAR:NM_001202517:exon8:c.A972G:p.P324P,CFLAR:NM_001202519:exon8:c.A972G:p.P324P,CFLAR:NM_001127183:exon9:c.A1260G:p.P420P,CFLAR:NM_003879:exon9:c.A1260G:p.P420P exonic ENSG00000003402 NA synonymous SNV ENSG00000003402:ENST00000341582:exon7:c.A1155G:p.P385P,ENSG00000003402:ENST00000479953:exon7:c.A972G:p.P324P,ENSG00000003402:ENST00000443227:exon8:c.A972G:p.P324P,ENSG00000003402:ENST00000457277:exon8:c.A1260G:p.P420P,ENSG00000003402:ENST00000309955:exon9:c.A1260G:p.P420P,ENSG00000003402:ENST00000340870:exon9:c.A1260G:p.P420P,ENSG00000003402:ENST00000423241:exon9:c.A1260G:p.P420P NA NA 2q33.1 NA NA NA NA rs1594 0.41 0.41 0.387 0.398762 0.5109 0.2569 0.4035 0.4614 0.3415 0.49 0.23 0.43 0.47 0.4508 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119389 NA NA 0.514535 0.470268 NA 0.413 NA 4.1904316 1233 3 3189279 3189279 A G exonic TRNT1 NA synonymous SNV TRNT1:NM_182916:exon7:c.A948G:p.A316A exonic ENSG00000072756 NA synonymous SNV ENSG00000072756:ENST00000251607:exon7:c.A948G:p.A316A,ENSG00000072756:ENST00000280591:exon7:c.A888G:p.A296A,ENSG00000072756:ENST00000434583:exon7:c.A948G:p.A316A Score=612;Name=lod=408 NA 3p26.2 NA NA NA NA rs1705805 0.76 0.76 0.749 0.739018 0.837 0.9494 0.755 0.4319 0.8252 0.83 0.95 0.76 0.44 0.7986 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441463 1.441463 NA 0.841126 0.524285 NA 0.732 NA 4.1899406 1233 11 122484431 122484431 T G intergenic MIR100HG,UBASH3B dist=410661;dist=41967 NA NA ncRNA_exonic ENSG00000254572 NA NA NA Score=820;Name=lod=2866 NA 11q24.1 NA NA NA NA rs7930461 0.82 0.82 0.811 0.816893 0.8101 0.8313 0.83 0.7973 0.8262 0.81 0.85 0.82 0.8 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089081 NA NA NA NA NA 0.833 NA 4.1899 1233 13 45594584 45594584 T C intronic KIAA1704 NA NA NA ncRNA_intronic ENSG00000223732 NA NA NA NA NA 13q14.12 NA NA NA NA rs7331627 0.09 0.09 0.104 0.101038 0.0547 0.1448 0.0432 0.1884 0.0266 0.05 0.12 0.04 0.16 0.0556 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123491 NA NA 0.033264 0.166818 NA 0.072 NA 4.1897693 1233 8 28981063 28981063 T G intronic KIF13B NA NA NA ncRNA_intronic ENSG00000254129 NA NA NA NA NA 8p12 NA NA NA NA rs3750263 0.2 0.2 0.166 0.214856 0.1441 0.2599 0.3545 0.1467 0.2342 0.14 0.26 0.31 0.12 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122059 NA NA NA NA ID=COSN168297;OCCURENCE=1(large_intestine) 0.196 NA 4.1892333 1233 2 188859657 188859657 G A intergenic TFPI,GULP1 dist=440438;dist=296739 NA NA ncRNA_intronic ENSG00000231689 NA NA NA NA NA 2q32.1 NA NA Name=64 NA rs7579998 0.81 0.81 0.797 0.79353 0.8111 0.8194 0.8329 0.7761 0.7444 0.82 0.82 0.81 0.76 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.309507 NA NA NA NA NA 0.768 NA 4.1889 1233 8 135577533 135577533 T G intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA Name=8 NA rs6988653 NA NA 0.299 0.324481 0.2475 0.5377 0.3242 0.1936 0.3609 NA NA NA NA 0.2946 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211239 NA NA 0.269341 0.229516 NA 0.188 NA 4.188559 1233 7 142104571 142104571 G A intergenic LOC730441,MTRNR2L6 dist=132503;dist=269560 NA NA upstream ENSG00000211732 NA NA NA NA Name=Capecitabine sensitivity 7q34 NA NA NA NA rs361433 0.08 0.08 0.078 0.108427 0.1024 0.004 0.1095 0.1384 0.181 0.09 0.01 0.12 0.14 0.1073 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807715 NA NA 0.101818 0.134555 NA 0.174 NA 4.188482 1233 12 48879908 48879908 T C intronic C12orf54 NA NA NA ncRNA_intronic ENSG00000258121 NA NA NA NA NA 12q13.11 NA NA NA NA rs4620769 0.28 0.28 0.211 0.288538 0.0815 0.6548 0.3357 0.1528 0.274 0.09 0.63 0.3 0.14 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.7793 NA NA 0.063482 0.145954 ID=COSN164236;OCCURENCE=1(NS) 0.167 NA 4.1883513 1233 12 51489009 51489009 C T UTR3 TFCP2 NM_001173453:c.*15G>A,NM_001173452:c.*15G>A,NM_005653:c.*15G>A NA NA UTR3 ENSG00000135457 ENST00000257915:c.*15G>A,ENST00000307660:c.*15G>A,ENST00000549867:c.*15G>A,ENST00000548115:c.*15G>A NA NA NA NA 12q13.12 NA NA NA NA rs13463 0.02 0.02 0.019 0.0173722 0.0527 NA 0.036 0.0045 0.0031 0.04 NA 0.03 0.01 0.0373 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660634 NA NA 0.055116 0.012029 NA 0.014 NA 4.1882174 1233 9 74975492 74975492 T C intronic ZFAND5 NA NA NA intronic ENSG00000107372 NA NA NA NA NA 9q21.13 NA NA Name=25 NA rs2146184 0.4 0.4 0.372 0.378994 0.3976 0.4127 0.4582 0.2935 0.3845 0.38 0.45 0.49 0.3 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.688392 1.688392 NA 0.414365 0.294521 NA 0.362 NA 4.188035 1233 2 21263639 21263639 T G intronic APOB NA NA NA intronic ENSG00000084674 NA NA NA NA NA 2p24.1 NA Name=HEY1 NA NA rs531819 0.86 0.86 0.854 0.854433 0.8121 0.996 0.8746 0.764 0.8599 0.81 0.99 0.88 0.79 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178263 NA NA NA NA NA 0.891 NA 4.1879 1233 6 46521602 46521602 C A intronic CYP39A1 NA NA NA intronic ENSG00000146233 NA NA NA Score=433;Name=lod=77 NA 6p12.3 NA NA NA NA rs699939 0.38 0.38 0.371 0.424321 0.2416 0.2639 0.3905 0.7761 0.3262 0.25 0.26 0.37 0.74 0.332 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299974 NA NA 0.238589 0.683409 NA 0.391 NA 4.187811 1233 10 133954011 133954011 C T exonic JAKMIP3 NA synonymous SNV JAKMIP3:NM_001105521:exon9:c.C1401T:p.D467D exonic ENSG00000188385 NA synonymous SNV ENSG00000188385:ENST00000298622:exon9:c.C1401T:p.D467D NA NA 10q26.3 NA NA NA NA rs2818387 0.51 0.51 0.499 0.513978 0.4841 0.5883 0.5793 0.4584 0.4969 0.48 0.55 0.58 0.45 0.5044 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994275 NA NA 0.490739 0.452345 NA 0.464 NA 4.1874276 1233 3 9799113 9799113 A G UTR3 CAMK1 NM_003656:c.*110T>C NA NA UTR3 ENSG00000114026,ENSG00000134072 ENST00000344629:c.*279A>G;ENST00000256460:c.*110T>C,ENST00000421120:c.*88T>C,ENST00000397277:c.*1104T>C NA NA NA NA 3p25.3 NA NA NA NA rs293795 0.16 0.16 0.158 0.169728 0.1461 0.0397 0.1383 0.3328 0.1299 0.15 0.05 0.15 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122344 NA NA NA NA NA 0.174 NA 4.1872334 1233 18 56409002 56409002 A C intronic MALT1 NA NA NA ncRNA_intronic ENSG00000267476 NA NA NA NA NA 18q21.32 NA NA NA NA rs4940747 0.16 0.16 0.133 0.14996 0.1461 0.1379 0.2493 0.1331 0.1186 0.14 0.14 0.24 0.15 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680936 NA NA NA NA NA 0.152 NA 4.1872333 1233 13 46104130 46104130 G C intronic COG3 NA NA NA intronic ENSG00000136152 NA NA NA NA NA 13q14.13 NA NA Name=4 NA rs2274286 0.85 0.85 0.842 0.849241 0.8131 0.881 0.8862 0.8275 0.8569 0.82 0.9 0.87 0.81 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.435613 NA NA NA NA NA 0.819 NA 4.1869 1233 19 48807401 48807401 C T intronic CCDC114 NA NA NA intronic ENSG00000105479 NA NA NA NA NA 19q13.33 NA Name=RXRA NA NA rs56177753 0.2 0.2 0.178 0.168131 0.2803 0.1339 0.2305 0.1036 0.1309 0.26 0.14 0.28 0.1 0.2441 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88938 NA NA 0.289092 0.138205 NA 0.203 NA 4.186508 1233 14 36235211 36235211 C T intronic RALGAPA1 NA NA NA ncRNA_exonic ENSG00000257957 NA NA NA NA NA 14q13.2 NA NA NA NA rs10152105 0.11 0.11 0.092 0.110423 0.1471 0.0992 0.0865 0.0779 0.1452 0.14 0.08 0.11 0.08 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.203955 2.203955 NA NA NA NA 0.094 NA 4.1862333 1233 18 9887394 9887394 C T exonic TXNDC2 NA synonymous SNV TXNDC2:NM_001098529:exon2:c.C918T:p.A306A,TXNDC2:NM_032243:exon2:c.C717T:p.A239A exonic ENSG00000168454 NA synonymous SNV ENSG00000168454:ENST00000306084:exon2:c.C918T:p.A306A,ENSG00000168454:ENST00000357775:exon2:c.C717T:p.A239A NA NA 18p11.22 NA NA NA NA rs2240910 0.51 0.51 0.485 0.518371 0.4761 0.8155 0.5331 0.3623 0.456 0.47 0.75 0.48 0.33 0.5149 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181348 NA NA 0.489535 0.397413 ID=COSM1389976,COSM1389975;OCCURENCE=1(large_intestine) 0.21 NA 4.1861316 1233 1 226570840 226570840 T C exonic PARP1 NA synonymous SNV PARP1:NM_001618:exon8:c.A1056G:p.K352K exonic ENSG00000143799 NA synonymous SNV ENSG00000143799:ENST00000366794:exon8:c.A1056G:p.K352K Score=552;Name=lod=233 NA 1q42.12 NA NA NA NA rs1805415 0.74 0.74 0.76 0.789337 0.8459 0.5635 0.6455 0.9123 0.8998 0.83 0.54 0.67 0.89 0.7939 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500527 NA NA 0.840814 0.89764 NA 0.79 NA 4.1860526 1233 2 105295074 105295074 G A intergenic LOC150568,LOC284998 dist=165859;dist=68021 NA NA ncRNA_exonic ENSG00000225669 NA NA NA Score=723;Name=lod=1157 NA 2q12.1 NA NA NA NA rs11889916 0.61 0.61 0.585 0.566294 0.8141 0.5863 0.647 0.205 0.7219 0.83 0.61 0.68 0.2 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.635981 2.635981 NA NA NA NA 0.551 NA 4.1859 1233 11 17496516 17496516 A G exonic ABCC8 NA synonymous SNV ABCC8:NM_000352:exon2:c.T207C:p.P69P exonic ENSG00000006071 NA synonymous SNV ENSG00000006071:ENST00000302539:exon2:c.T207C:p.P69P,ENSG00000006071:ENST00000389817:exon2:c.T207C:p.P69P,ENSG00000006071:ENST00000527905:exon2:c.T207C:p.P69P NA NA 11p15.1 NA NA NA NA rs1048099 0.44 0.44 0.443 0.439297 0.497 0.3611 0.5432 0.3729 0.4765 0.49 0.39 0.52 0.39 0.474 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752273 NA NA 0.510249 0.411591 NA 0.478 NA 4.1854176 1233 19 20296738 20296738 C G intronic ZNF486 NA NA NA ncRNA_intronic ENSG00000267383 NA NA NA NA NA 19p12 NA NA NA NA rs836897 0.29 0.29 0.272 0.288538 0.1481 0.4583 0.3112 0.267 0.271 0.15 0.5 0.28 0.26 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072708 NA NA NA NA NA 0.246 NA 4.1852333 1233 5 148590423 148590423 T C intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647 NA NA NA NA NA 5q32 NA Name=ZNF263 NA NA rs2918281 0.47 0.47 0.456 0.498403 0.3539 0.6587 0.3804 0.5673 0.4724 0.34 0.63 0.37 0.56 0.4162 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003737 NA NA 0.378023 0.555606 NA 0.486 NA 4.1852103 1233 1 22149935 22149935 T C exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon97:c.A13050G:p.S4350S exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon97:c.A13050G:p.S4350S Score=487;Name=lod=127 NA 1p36.12 NA NA NA NA rs897467 0.78 0.78 0.803 0.780351 0.833 0.8155 0.7493 0.677 0.8517 0.82 0.81 0.74 0.7 0.8204 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.902036 1.902036 NA 0.828096 0.722323 NA 0.681 NA 4.1851706 1234 1 206224412 206224412 T C UTR5 AVPR1B NM_000707:c.-29T>C NA NA UTR5 ENSG00000198049 ENST00000367126:c.-29T>C NA NA NA NA 1q32.1 NA NA NA NA rs35608965 0.05 0.05 0.053 0.0591054 0.0507 0.006 0.0403 0.1248 0.047 0.05 0.01 0.05 0.12 0.0526 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781479 NA NA 0.045115 0.083676 NA 0.123 NA 4.1849184 1234 8 28997850 28997850 A G intronic KIF13B NA NA NA ncRNA_intronic ENSG00000254129 NA NA NA NA NA 8p12 NA NA NA NA rs2279444 0.22 0.22 0.204 0.226038 0.1491 0.2371 0.3689 0.23 0.1871 0.15 0.24 0.34 0.22 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076197 NA NA NA NA NA 0.29 NA 4.1842333 1234 1 54483694 54483694 C T intronic LDLRAD1 NA NA NA intronic ENSG00000203985 NA NA NA NA NA 1p32.3 NA Name=Pol2 NA NA rs34764952 0.39 0.39 0.358 0.344449 0.4105 0.5565 0.4942 0.09 0.2955 0.4 0.56 0.46 0.12 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277754 NA NA 0.405405 0.12211 NA 0.268 NA 4.184095 1234 16 84494168 84494168 A T intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs62050916 0.04 0.04 0.028 0.0353435 0.0934 0.0079 0.049 0.0068 0.0327 0.08 0.0017 0.07 0.01 0.056 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677908 NA NA NA NA NA 0.022 NA 4.1839333 1234 4 74804923 74804923 G T intergenic CXCL1,PF4 dist=67904;dist=41619 NA NA ncRNA_exonic ENSG00000249920 NA NA NA Score=562;Name=lod=257 NA 4q13.3 NA NA NA NA rs6446970 0.66 0.66 0.585 0.578275 0.8161 0.8323 0.7493 0.1059 0.589 0.83 0.83 0.76 0.11 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469912 NA NA NA NA NA 0.558 NA 4.1839 1234 9 75783937 75783937 A G intronic ANXA1 NA NA NA intronic ENSG00000135046 NA NA NA Score=452;Name=lod=92 NA 9q21.13 NA Name=Pol2(phosphoS2),Pol2(b) NA NA rs3739959 0.49 0.49 0.499 0.471046 0.6322 0.1716 0.5288 0.6241 0.3661 0.63 0.19 0.55 0.6 0.5558 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.291677 3.291677 NA 0.628605 0.61212 NA 0.507 NA 4.183395 1234 10 99349538 99349538 G T UTR5 C10orf62 NM_001009997:c.-117G>T NA NA UTR5 ENSG00000203942 ENST00000370640:c.-117G>T NA NA NA NA 10q24.2 NA NA NA NA rs11540693 0.07 0.07 0.056 0.0688898 0.1501 0.0357 0.0677 0.0061 0.1053 0.15 0.04 0.06 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.445115 3.445115 NA NA NA NA 0.051 NA 4.1832334 1234 12 1919543 1919543 C T intronic CACNA2D4 NA NA NA intronic ENSG00000151062 NA NA NA NA NA 12p13.33 NA Name=FOSL2,eGFP-FOS Name=39 NA rs2286377 0.52 0.52 0.519 0.46226 0.6123 0.5714 0.4452 0.23 0.5215 0.62 0.62 0.49 0.26 0.5749 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944505 NA NA 0.62982 0.314548 NA 0.594 NA 4.18298 1234 11 55061239 55061239 G A ncRNA_intronic TRIM51HP NA NA NA ncRNA_intronic ENSG00000166007 NA NA NA NA NA 11q11 NA NA NA NA rs11229021 0.4 0.4 0.359 0.41254 0.4841 0.5397 0.5533 0.1853 0.4151 0.45 0.49 0.52 0.13 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029362 NA NA NA NA NA 0.138 NA 4.1825666 1234 4 2831383 2831383 T G exonic SH3BP2 NA synonymous SNV SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A exonic ENSG00000087266 NA synonymous SNV ENSG00000087266:ENST00000356331:exon8:c.T750G:p.A250A,ENSG00000087266:ENST00000435136:exon8:c.T750G:p.A250A,ENSG00000087266:ENST00000442312:exon8:c.T834G:p.A278A,ENSG00000087266:ENST00000452765:exon8:c.T750G:p.A250A,ENSG00000087266:ENST00000503393:exon8:c.T921G:p.A307A,ENSG00000087266:ENST00000511747:exon8:c.T750G:p.A250A NA NA 4p16.3 NA NA NA NA rs231399 0.45 0.45 0.435 0.466254 0.4851 0.4712 0.5245 0.3533 0.5532 0.48 0.45 0.53 0.34 0.5037 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.839449 NA NA 0.495349 0.374262 ID=COSM1131132;OCCURENCE=1(prostate) 0.428 NA 4.1825176 1234 3 156262232 156262232 C G intronic SSR3 NA NA NA intronic ENSG00000114850 NA NA NA NA NA 3q25.31 NA NA Name=3 NA rs6792998 0.33 0.33 0.343 0.34385 0.2803 0.3829 0.2925 0.4002 0.3292 0.27 0.34 0.25 0.47 0.2867 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315696 NA NA 0.25093 0.378348 NA 0.312 NA 4.18207 1234 19 51456015 51456015 G A UTR5 KLK5 NM_001077491:c.-102C>T,NM_012427:c.-102C>T NA NA ncRNA_splicing ENSG00000269495 ENST00000601506:exon2:c.124-1G>A,ENST00000594939:exon2:c.122-1G>A NA NA NA NA 19q13.41 NA NA NA NA rs11553092 0.41 0.41 0.356 0.392772 0.3181 0.7183 0.438 0.1301 0.4571 0.33 0.75 0.39 0.15 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519096 NA NA NA NA NA 0.384 NA 4.1819 1234 4 99337881 99337881 C T intronic RAP1GDS1 NA NA NA intronic ENSG00000138698 NA NA NA NA Name=Biochemical measures 4q23 NA NA NA NA rs10516430 0.22 0.22 0.215 0.231629 0.2753 0.253 0.2176 0.115 0.3323 0.27 0.27 0.21 0.12 0.2612 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.753576 3.753576 NA 0.281932 0.148007 NA 0.217 NA 4.181568 1234 12 11201041 11201041 A G ncRNA_intronic PRH1-PRR4 NA NA NA ncRNA_exonic ENSG00000256019 NA NA NA NA NA 12p13.2 NA NA NA NA rs2708319 0.39 0.39 0.35 0.336861 0.4851 0.1925 0.4625 0.3434 0.2352 0.51 0.22 0.43 0.36 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019334 NA NA NA NA NA 0.399 NA 4.1815666 1234 12 11201487 11201487 T C ncRNA_intronic PRH1-PRR4 NA NA NA ncRNA_exonic ENSG00000256019 NA NA NA NA NA 12p13.2 NA NA NA NA rs2597985 0.39 0.39 0.367 0.336861 0.4851 0.1925 0.4625 0.3434 0.2352 0.51 0.22 0.43 0.36 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01529 NA NA NA NA NA 0.406 NA 4.1815666 1234 12 11201629 11201629 G A ncRNA_intronic PRH1-PRR4 NA NA NA ncRNA_exonic ENSG00000256019 NA NA NA NA NA 12p13.2 NA NA NA NA rs2599394 0.39 0.39 0.359 0.336861 0.4851 0.1925 0.4625 0.3434 0.2352 0.51 0.22 0.43 0.36 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316556 NA NA NA NA NA 0.406 NA 4.1815666 1234 2 202050677 202050677 A G exonic CASP10 NA synonymous SNV CASP10:NM_001206524:exon2:c.A177G:p.S59S,CASP10:NM_001206542:exon2:c.A177G:p.S59S,CASP10:NM_001230:exon2:c.A177G:p.S59S,CASP10:NM_032974:exon2:c.A177G:p.S59S,CASP10:NM_032976:exon2:c.A177G:p.S59S,CASP10:NM_032977:exon2:c.A177G:p.S59S exonic ENSG00000003400 NA synonymous SNV ENSG00000003400:ENST00000272879:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000286186:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000313728:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000346817:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000360132:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000374650:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000438843:exon2:c.A177G:p.S59S,ENSG00000003400:ENST00000448480:exon2:c.A177G:p.S59S NA NA 2q33.1 NA NA NA NA rs3900115 0.4 0.4 0.399 0.394169 0.5119 0.2192 0.402 0.4887 0.32 0.5 0.19 0.42 0.49 0.4524 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278624 NA NA 0.521047 0.488879 NA 0.413 NA 4.1813196 1234 18 55283236 55283236 T C intronic NARS NA NA NA exonic ENSG00000134440 NA nonsynonymous SNV ENSG00000134440:ENST00000590123:exon3:c.A109G:p.N37D NA NA 18q21.31 NA NA NA NA rs9319918 0.19 0.19 0.18 0.183906 0.337 0.0119 0.2464 0.171 0.1769 0.33 0.01 0.23 0.15 0.2917 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175515 NA NA 0.356711 0.197685 NA 0.297 NA 4.1812557 1234 19 49519855 49519855 T G exonic LHB NA synonymous SNV LHB:NM_000894:exon2:c.A132C:p.P44P exonic ENSG00000104826 NA synonymous SNV ENSG00000104826:ENST00000221421:exon2:c.A132C:p.P44P NA NA 19q13.33 NA NA NA NA rs1056914 0.43 0.43 0.349 0.51897 0.504 0.2798 0.5793 0.6876 0.5102 0.43 0.26 0.48 0.6 0.5136 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.350134 NA NA 0.467885 0.634362 NA 0.551 NA 4.1811816 1234 9 125316042 125316042 T C exonic OR1N2 NA synonymous SNV OR1N2:NM_001004457:exon1:c.T594C:p.P198P exonic ENSG00000171501 NA synonymous SNV ENSG00000171501:ENST00000373688:exon1:c.T594C:p.P198P NA NA 9q33.2 NA NA NA NA rs1341043 0.55 0.55 0.513 0.558906 0.4791 0.6637 0.5908 0.5961 0.4601 0.47 0.62 0.58 0.57 0.517 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217747 NA NA 0.489767 0.57399 NA 0.428 NA 4.1807996 1234 16 57951394 57951394 T G intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA Name=Pol2 NA NA rs3991715 0.28 0.28 0.281 0.308706 0.2883 0.1776 0.2262 0.4728 0.3016 0.26 0.2 0.26 0.43 0.2746 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789702 NA NA 0.256361 0.417106 NA 0.362 NA 4.180739 1234 20 47256300 47256300 C T intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 Score=752;Name=V$PPARA_01 NA NA NA rs6019339 0.32 0.32 0.308 0.367212 0.2664 0.2262 0.3084 0.5613 0.3957 0.25 0.22 0.34 0.53 0.3013 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014215 NA NA 0.251744 0.525647 NA 0.283 NA 4.180556 1234 9 125315778 125315778 G C exonic OR1N2 NA synonymous SNV OR1N2:NM_001004457:exon1:c.G330C:p.S110S exonic ENSG00000171501 NA synonymous SNV ENSG00000171501:ENST00000373688:exon1:c.G330C:p.S110S NA NA 9q33.2 NA NA NA NA rs1411271 0.55 0.55 0.53 0.559505 0.4791 0.6677 0.5908 0.5953 0.4601 0.47 0.62 0.58 0.57 0.5174 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518706 NA NA 0.489651 0.57399 NA 0.428 NA 4.1805156 1234 16 50328526 50328526 C T intronic ADCY7 NA NA NA intronic ENSG00000121281 NA NA NA NA NA 16q12.1 NA Name=NRSF NA NA rs2302717 0.38 0.38 0.346 0.414936 0.2058 0.8036 0.366 0.2179 0.5307 0.21 0.81 0.32 0.19 0.4215 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178608 NA NA 0.192227 0.22599 NA 0.312 NA 4.180473 1234 19 18256163 18256163 T G intronic MAST3 NA NA NA ncRNA_intronic ENSG00000269145 NA NA NA NA NA 19p13.11 NA NA NA NA rs62123605 0.11 0.11 0.098 0.0842652 0.1531 0.123 0.1182 0.0159 0.0419 0.16 0.1 0.12 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472741 NA NA NA NA NA 0.058 NA 4.1802333 1234 11 118888619 118888619 A G intronic RPS25 NA NA NA intronic ENSG00000118181 NA NA NA NA NA 11q23.3 NA Name=p300 NA NA rs11602764 0.26 0.26 0.287 0.327875 0.2704 0.128 0.2594 0.5144 0.3896 0.25 0.1 0.28 0.48 0.2783 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528709 NA NA 0.271129 0.478864 NA 0.391 NA 4.180171 1234 11 49013161 49013161 T C intergenic OR4A47,TRIM49B dist=501887;dist=39991 NA NA ncRNA_exonic ENSG00000254764 NA NA NA Score=410;Name=lod=62 NA 11p11.12 NA NA NA NA rs1827725 0.75 0.75 0.77 0.708267 0.8201 0.5972 0.7622 0.8094 0.5327 0.8 0.63 0.78 0.77 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412869 NA NA NA NA NA 0.312 NA 4.1799 1234 16 66614097 66614097 G C intronic CMTM2 NA NA NA ncRNA_exonic ENSG00000260650 NA NA NA NA NA 16q21 NA NA NA NA rs2290181 0.08 0.08 0.079 0.0900559 0.0517 0.1101 0.147 0.0598 0.1094 0.05 0.11 0.13 0.06 0.0732 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.351996 1.351996 NA 0.028953 0.06338 ID=COSM148090;OCCURENCE=1(stomach) 0.043 NA 4.1794803 1234 19 5587240 5587240 G A UTR3 SAFB2 NM_014649:c.*14C>T NA NA UTR3 ENSG00000130254 ENST00000252542:c.*14C>T NA NA NA NA 19p13.3 NA NA NA NA rs73920021 0.09 0.09 0.081 0.101837 0.0417 0.0159 0.0504 0.233 0.1115 0.04 0.02 0.07 0.25 0.0651 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262603 NA NA 0.047104 0.190422 NA 0.094 NA 4.1794294 1234 4 77021433 77021433 C T intronic ART3 NA NA NA intronic ENSG00000156219 NA NA NA NA NA 4q21.1 NA NA Name=9 NA rs6532189 0.33 0.33 0.319 0.307508 0.2783 0.3522 0.2536 0.4304 0.1636 0.27 0.37 0.27 0.43 0.2746 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170428 NA NA 0.267674 0.401725 NA 0.239 NA 4.179426 1234 16 57748845 57748845 T C intronic CCDC135 NA NA NA ncRNA_exonic ENSG00000260438 NA NA NA NA NA 16q21 NA NA NA NA rs9922246 0.21 0.21 0.211 0.202276 0.1541 0.2629 0.2536 0.2171 0.1329 0.16 0.25 0.22 0.24 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469929 NA NA NA NA NA 0.174 NA 4.1792333 1234 5 80502736 80502736 C G ncRNA_intronic RNU5D-1,RNU5E-1 NA NA NA ncRNA_intronic ENSG00000247572 NA NA NA NA NA 5q14.1 NA NA NA NA rs6453542 0.21 0.21 0.234 0.227236 0.1491 0.2778 0.1744 0.2769 0.226 0.15 0.27 0.17 0.28 0.1834 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.322949 1.322949 NA 0.155233 0.247844 NA 0.152 NA 4.1789336 1234 19 53612311 53612311 T C exonic ZNF415 NA synonymous SNV ZNF415:NM_001136038:exon4:c.A987G:p.T329T,ZNF415:NM_001164309:exon4:c.A987G:p.T329T,ZNF415:NM_018355:exon4:c.A987G:p.T329T exonic ENSG00000170954 NA synonymous SNV ENSG00000170954:ENST00000601493:exon3:c.A297G:p.T99T,ENSG00000170954:ENST00000243643:exon4:c.A987G:p.T329T,ENSG00000170954:ENST00000500065:exon4:c.A987G:p.T329T,ENSG00000170954:ENST00000421033:exon5:c.A1023G:p.T341T,ENSG00000170954:ENST00000440291:exon5:c.A948G:p.T316T,ENSG00000170954:ENST00000448501:exon6:c.A1131G:p.T377T,ENSG00000170954:ENST00000455735:exon7:c.A1131G:p.T377T NA NA 19q13.42 NA NA NA NA rs4803051 0.49 0.49 0.455 0.477436 0.496 0.6151 0.6254 0.2405 0.5317 0.5 0.6 0.62 0.24 0.5042 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204034 NA NA 0.487558 0.2803 NA 0.442 NA 4.1789086 1234 4 69862742 69862742 A G intergenic UGT2A3,UGT2B10 dist=45233;dist=7553 NA NA ncRNA_exonic ENSG00000250277 NA NA NA Score=744;Name=lod=1407 NA 4q13.2 NA NA NA NA rs4088518 0.64 0.64 0.607 0.66254 0.8211 0.4444 0.745 0.6074 0.7403 0.8 0.43 0.72 0.56 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139532 NA NA NA NA NA 0.739 NA 4.1789 1234 19 43835613 43835613 C G intergenic PSG9,PRG1 dist=61931;dist=17595 NA NA upstream ENSG00000231412 NA NA NA NA NA 19q13.31 NA Name=ZNF263 NA NA rs28735852 0.39 0.39 0.362 0.363618 0.3211 0.6062 0.3559 0.3185 0.2239 0.31 0.58 0.38 0.3 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298121 NA NA NA NA NA 0.304 NA 4.1789 1234 13 113801737 113801737 C T exonic F10 NA synonymous SNV F10:NM_000504:exon7:c.C792T:p.T264T exonic ENSG00000126218 NA synonymous SNV ENSG00000126218:ENST00000375551:exon7:c.C792T:p.T264T,ENSG00000126218:ENST00000375559:exon7:c.C792T:p.T264T,ENSG00000126218:ENST00000409306:exon7:c.C792T:p.T264T Score=436;Name=lod=79 NA 13q34 NA NA NA NA rs5960 0.66 0.66 0.649 0.623203 0.8648 0.5238 0.6715 0.4463 0.682 0.87 0.54 0.68 0.47 0.7597 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842003 NA NA 0.863372 0.496596 ID=COSM147720;OCCURENCE=1(stomach) 0.652 NA 4.1787946 1234 4 74453656 74453656 G A intronic RASSF6 NA NA NA intronic ENSG00000169435 NA NA NA Score=505;Name=lod=151 NA 4q13.3 NA NA NA NA rs10019146 0.25 0.25 0.215 0.262181 0.2833 0.1141 0.4712 0.2716 0.2321 0.28 0.11 0.41 0.25 0.2624 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489561 NA NA 0.27593 0.293143 NA 0.283 NA 4.17837 1234 2 128409419 128409419 A G UTR3 GPR17 NM_001161415:c.*90A>G,NM_005291:c.*90A>G,NM_001161417:c.*90A>G,NM_001161416:c.*90A>G NA NA UTR3 ENSG00000144230 ENST00000544369:c.*90A>G,ENST00000272644:c.*90A>G NA NA NA NA 2q14.3 NA NA NA NA rs13021001 0.12 0.12 0.111 0.139976 0.1551 0.1607 0.1196 0.0303 0.2658 0.15 0.15 0.13 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74972 NA NA NA NA NA 0.08 NA 4.1782334 1234 1 7879627 7879627 C T intronic PER3 NA NA NA ncRNA_intronic ENSG00000236266 NA NA NA NA NA 1p36.23 NA NA NA NA rs10462018 0.12 0.12 0.114 0.109225 0.1561 0.0685 0.0951 0.1649 0.0378 0.16 0.03 0.12 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.984786 NA NA NA NA NA 0.123 NA 4.1772333 1234 1 248166526 248166526 T C intronic OR2L13 NA NA NA ncRNA_exonic ENSG00000232215 NA NA NA NA NA 1q44 NA NA NA NA rs61856388 0.34 0.34 0.345 0.347045 0.1561 0.3016 0.1484 0.7852 0.1391 0.15 0.35 0.16 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509406 NA NA NA NA NA 0.304 NA 4.1772333 1234 11 49860915 49860915 C G intergenic LOC440040,OR4C13 dist=28946;dist=113028 NA NA upstream ENSG00000219061 NA NA NA Score=409;Name=lod=61 NA 11p11.12 NA NA NA NA rs12806461 0.34 0.34 0.3 0.314097 0.3231 0.2808 0.2176 0.4493 0.2249 0.33 0.28 0.23 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322742 NA NA NA NA NA 0.348 NA 4.1769 1234 12 57920262 57920262 T G intronic MBD6 NA NA NA intronic ENSG00000166987 NA NA NA NA NA 12q13.3 Score=821;Name=V$RREB1_01 NA NA NA rs2127318 0.65 0.65 0.615 0.627196 0.8231 0.7232 0.8069 0.1649 0.8241 0.82 0.72 0.81 0.2 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000785 NA NA NA NA NA 0.601 NA 4.1769 1234 1 233767059 233767059 T C intronic KCNK1 NA NA NA intronic ENSG00000135750 NA NA NA NA NA 1q42.2 NA Name=TAL1_(SC-12984) NA NA rs701226 0.4 0.4 0.433 0.428315 0.2465 0.3542 0.2723 0.8011 0.2986 0.25 0.35 0.28 0.79 0.3142 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311761 NA NA 0.262431 0.719749 NA 0.42 NA 4.176869 1234 3 52540773 52540773 T C exonic STAB1 NA synonymous SNV STAB1:NM_015136:exon18:c.T1896C:p.G632G exonic ENSG00000010327 NA synonymous SNV ENSG00000010327:ENST00000321725:exon18:c.T1896C:p.G632G NA NA 3p21.1 NA NA NA NA rs1010553 0.54 0.54 0.525 0.638778 0.4682 0.5446 0.4265 0.8601 0.7628 0.46 0.48 0.41 0.82 0.5426 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04421 NA NA 0.479065 0.820926 NA 0.609 NA 4.1768016 1234 1 8928125 8928125 G T intronic ENO1 NA NA NA intronic ENSG00000074800 NA NA NA NA NA 1p36.23 NA Name=Pol2,Pol2-4H8 NA NA rs2071412 0.38 0.38 0.361 0.34345 0.2445 0.7401 0.4135 0.1233 0.2843 0.25 0.76 0.4 0.14 0.3178 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002035 NA NA 0.26093 0.16296 NA 0.254 NA 4.17677 1234 7 48312674 48312674 G A exonic ABCA13 NA synonymous SNV ABCA13:NM_152701:exon17:c.G3411A:p.V1137V exonic ENSG00000179869 NA synonymous SNV ENSG00000179869:ENST00000435803:exon17:c.G3411A:p.V1137V NA NA 7p12.3 NA NA NA NA rs1358066 0.57 0.57 0.543 0.57528 0.4632 0.7708 0.5101 0.5507 0.5685 0.46 0.77 0.52 0.53 0.5356 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.742765 NA NA 0.491194 0.501902 ID=COSM150288,COSM150289;OCCURENCE=1(stomach) 0.638 NA 4.1766726 1234 15 101591784 101591784 C T intronic LRRK1 NA NA NA ncRNA_intronic ENSG00000259755 NA NA NA NA NA 15q26.3 NA NA NA NA rs13329684 0.14 0.14 0.147 0.147564 0.1571 0.0387 0.0951 0.264 0.1299 0.16 0.04 0.11 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064867 NA NA NA NA NA 0.152 NA 4.1762333 1234 15 101591834 101591834 G A intronic LRRK1 NA NA NA ncRNA_intronic ENSG00000259755 NA NA NA NA NA 15q26.3 NA NA NA NA rs13329662 0.14 0.14 0.145 0.146965 0.1571 0.0387 0.0951 0.2617 0.1299 0.16 0.04 0.11 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109873 NA NA NA NA NA 0.152 NA 4.1762333 1234 1 247655516 247655516 C T UTR3 OR2W5 NM_001004698:c.*124C>T NA NA ncRNA_exonic ENSG00000203664 NA NA NA NA NA 1q44 NA NA NA NA rs12123109 0.26 0.26 0.27 0.246006 0.3241 0.2619 0.2233 0.1785 0.2566 0.33 0.29 0.23 0.16 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80837 NA NA NA NA NA 0.254 NA 4.1759 1234 13 111590169 111590169 C T intergenic ANKRD10,ARHGEF7 dist=22753;dist=177455 NA NA ncRNA_exonic ENSG00000227105 NA NA NA Score=587;Name=lod=325 NA 13q34 NA NA NA NA rs7338011 0.76 0.76 0.697 0.729233 0.8241 0.9256 0.7911 0.4349 0.7832 0.81 0.93 0.79 0.45 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279558 NA NA NA NA NA 0.754 NA 4.1759 1234 13 111591170 111591170 G A intergenic ANKRD10,ARHGEF7 dist=23754;dist=176454 NA NA ncRNA_exonic ENSG00000227105 NA NA NA NA NA 13q34 NA Name=Rad21,CTCF NA NA rs7333318 0.72 0.72 0.685 0.691494 0.8241 0.8641 0.781 0.3434 0.7843 0.82 0.86 0.78 0.37 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.067426 NA NA NA NA NA 0.703 NA 4.1759 1234 15 22298495 22298495 G C ncRNA_intronic LOC727924 NA NA NA ncRNA_intronic ENSG00000259176 NA NA NA NA NA 15q11.2 NA NA NA NA rs2115633 NA NA 0.559 0.551318 0.4911 0.6022 0.5187 0.6021 0.5153 NA NA NA NA NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586799 NA NA NA NA NA 0.572 NA 4.1755666 1234 16 56652051 56652051 C A ncRNA_intronic MT1L NA NA NA ncRNA_intronic ENSG00000260549 NA NA NA NA NA 16q12.2 NA NA NA NA rs2018703 0.45 0.45 0.415 0.422125 0.4911 0.504 0.4366 0.3366 0.3722 0.49 0.49 0.44 0.35 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.25375 NA NA NA NA NA 0.428 NA 4.1755666 1234 14 95109833 95109833 G A ncRNA_exonic SERPINA13P NA NA NA ncRNA_exonic ENSG00000187483 NA NA NA NA NA 14q32.13 NA NA NA NA rs17826595 0.09 0.09 0.081 0.0826677 0.1928 0.0109 0.0965 0.0325 0.1012 0.18 0.01 0.1 0.02 0.1268 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214581 NA 0.3 0.171744 0.055379 NA 0.058 NA 4.1753226 1234 3 86063253 86063253 T C intronic CADM2 NA NA NA ncRNA_exonic ENSG00000243915 NA NA NA NA NA 3p12.1 NA NA NA NA rs79960578 0.17 0.17 0.149 0.19389 0.1581 0.2083 0.1614 0.1778 0.2607 0.15 0.21 0.16 0.17 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324587 NA NA NA NA NA 0.225 NA 4.1752333 1234 7 39368609 39368609 T C intronic POU6F2 NA NA NA ncRNA_exonic ENSG00000206947 NA NA NA NA NA 7p14.1 NA NA NA NA rs17619162 0.12 0.12 0.112 0.0816693 0.1581 0.127 0.0922 0.0144 0.0399 0.16 0.15 0.1 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082964 NA NA NA NA NA 0.08 NA 4.1752333 1234 7 147092615 147092615 C T ncRNA_intronic MIR548I4 NA NA NA intronic ENSG00000174469 NA NA NA NA NA 7q35 NA NA NA NA rs700308 0.19 0.19 0.185 0.174321 0.1581 0.3254 0.183 0.0734 0.1656 0.16 0.33 0.19 0.07 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648398 NA NA NA NA NA 0.116 NA 4.1752333 1234 14 71061956 71061956 T C intronic MED6 NA NA NA ncRNA_exonic ENSG00000258951 NA NA NA NA NA 14q24.2 NA NA NA NA rs7158848 0.34 0.34 0.373 0.334665 0.1581 0.5595 0.1556 0.4652 0.2352 0.16 0.56 0.14 0.5 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129636 NA NA NA NA NA 0.384 NA 4.1752333 1235 7 132854875 132854875 C T intergenic CHCHD3,EXOC4 dist=88047;dist=82948 NA NA ncRNA_exonic ENSG00000237821 NA NA NA Score=766;Name=lod=1728 NA 7q33 NA NA NA NA rs10259794 0.84 0.84 0.798 0.859425 0.825 0.9365 0.8876 0.761 0.9284 0.81 0.94 0.87 0.72 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139542 NA NA NA NA NA 0.819 NA 4.175 1235 5 141016288 141016288 T G intronic HDAC3 NA NA NA intronic ENSG00000171720 NA NA NA NA NA 5q31.3 NA Name=CCNT2,AP-2gamma,HEY1,HA-E2F1,Pol2-4H8,Pol2,Pol2(phosphoS2),TAF1,ETS1 Name=27 NA rs1421896 0.62 0.62 0.597 0.65635 0.5825 0.3472 0.7147 0.9251 0.6462 0.6 0.35 0.71 0.9 0.6339 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144818 NA NA 0.608721 0.873808 NA 0.667 NA 4.174879 1235 1 117487710 117487710 A G exonic PTGFRN NA synonymous SNV PTGFRN:NM_020440:exon3:c.A828G:p.P276P exonic ENSG00000134247 NA synonymous SNV ENSG00000134247:ENST00000393203:exon3:c.A828G:p.P276P NA NA 1p13.1 Score=847;Name=V$ZID_01 NA NA NA rs10159095 0.78 0.78 0.07 0.859425 0.8966 0.8452 0.9222 0.7549 0.9325 0.81 0.81 0.85 0.65 0.8916 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750391 NA NA 0.703768 0.529732 NA NA NA 4.1746986 1235 3 129826031 129826031 C T ncRNA_intronic FAM86HP NA NA NA ncRNA_intronic ENSG00000251287,ENSG00000253540 NA NA NA NA NA 3q22.1 NA NA NA NA rs7428327 0.42 0.42 0.385 0.445887 0.493 0.4127 0.4222 0.3638 0.5593 0.48 0.39 0.44 0.35 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402625 NA NA NA NA NA 0.428 NA 4.1736666 1235 7 100818101 100818101 A G intronic NAT16 NA NA NA intronic ENSG00000167011 NA NA NA Score=289;Name=lod=20 NA 7q22.1 NA Name=NRSF,TCF12 NA NA rs733965 0.52 0.52 0.459 0.488419 0.6133 0.4722 0.6643 0.2988 0.5082 0.63 0.51 0.63 0.28 0.5939 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932086 NA NA 0.619269 0.326521 NA 0.471 NA 4.173531 1235 2 241831005 241831005 C T exonic C2orf54 NA synonymous SNV C2orf54:NM_001085437:exon2:c.G690A:p.R230R,C2orf54:NM_024861:exon2:c.G186A:p.R62R exonic ENSG00000172478 NA synonymous SNV ENSG00000172478:ENST00000307486:exon2:c.G243A:p.R81R,ENSG00000172478:ENST00000388934:exon2:c.G690A:p.R230R,ENSG00000172478:ENST00000402775:exon2:c.G186A:p.R62R NA NA 2q37.3 NA NA NA NA rs10195453 0.52 0.52 0.547 0.526558 0.5179 0.4405 0.3473 0.7784 0.411 0.52 0.38 0.38 0.77 0.4803 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607648 NA NA 0.495193 0.739671 NA 0.667 NA 4.1732736 1235 19 10385743 10385743 C G intronic ICAM1 NA NA NA ncRNA_intronic ENSG00000266978 NA NA NA NA NA 19p13.2 NA NA Name=5 NA rs5030352 0.39 0.39 0.411 0.409944 0.3777 0.1746 0.2637 0.7579 0.319 0.38 0.16 0.28 0.75 0.3794 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578529 NA NA 0.403192 0.669322 NA 0.522 NA 4.1730413 1235 22 17414385 17414385 T C intergenic HSFY1P1,GAB4 dist=104160;dist=28442 NA NA downstream ENSG00000253481 NA NA NA Score=466;Name=lod=104 NA 22q11.1 NA NA NA NA rs4819921 0.36 0.36 0.355 0.355831 0.327 0.5556 0.3905 0.2821 0.2546 0.3 0.53 0.35 0.26 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023977 NA NA NA NA NA 0.319 NA 4.173 1235 2 86363074 86363074 A G ncRNA_exonic SNORD94 NA NA NA ncRNA_exonic ENSG00000208772 NA NA NA Score=412;Name=lod=63 NA 2p11.2 Score=791;Name=V$PAX2_01 NA NA NA rs3770069 0.69 0.69 0.643 0.678115 0.84 0.6567 0.8271 0.3873 0.8211 0.84 0.67 0.85 0.36 0.8045 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349086 NA NA 0.849573 0.47089 NA 0.71 NA 4.1725936 1235 5 147020443 147020443 C T ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA NA NA 5q32 NA NA NA NA rs1529685 0.33 0.33 0.301 0.342252 0.161 0.5982 0.3602 0.3162 0.2873 0.14 0.61 0.29 0.32 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120801 NA NA NA NA NA 0.29 NA 4.1723333 1235 3 14190237 14190237 T G intronic XPC NA NA NA intronic ENSG00000154767 NA NA NA NA NA 3p25.1 NA Name=CTCF_(SC-5916),CTCF,TBP,Rad21,c-Myc Name=19 NA rs2279017 0.66 0.66 0.64 0.679712 0.5964 0.6657 0.7118 0.7352 0.682 0.59 0.65 0.72 0.71 0.6302 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230386 NA NA 0.601398 0.703221 NA 0.536 NA 4.172002 1235 2 219204728 219204728 C T intronic PNKD NA NA NA ncRNA_intronic ENSG00000237281 NA NA NA NA NA 2q35 NA NA NA NA rs73088163 0.07 0.07 0.055 0.090655 0.0388 0.1716 0.0259 0.0424 0.1718 0.04 0.15 0.04 0.05 0.0697 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571106 NA NA 0.052907 0.039492 NA 0.058 NA 4.1719263 1235 2 241830969 241830969 G A exonic C2orf54 NA synonymous SNV C2orf54:NM_001085437:exon2:c.C726T:p.S242S,C2orf54:NM_024861:exon2:c.C222T:p.S74S exonic ENSG00000172478 NA synonymous SNV ENSG00000172478:ENST00000307486:exon2:c.C279T:p.S93S,ENSG00000172478:ENST00000388934:exon2:c.C726T:p.S242S,ENSG00000172478:ENST00000402775:exon2:c.C222T:p.S74S NA NA 2q37.3 NA NA NA NA rs10171067 0.52 0.52 0.563 0.527157 0.5179 0.4415 0.3473 0.7799 0.411 0.52 0.38 0.38 0.77 0.4811 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.100703 NA NA 0.49638 0.743345 NA 0.674 NA 4.1712866 1235 19 46289392 46289392 G C exonic DMWD NA synonymous SNV DMWD:NM_004943:exon3:c.C1362G:p.P454P exonic ENSG00000185800 NA synonymous SNV ENSG00000185800:ENST00000270223:exon3:c.C1362G:p.P454P,ENSG00000185800:ENST00000377735:exon3:c.C1362G:p.P454P NA NA 19q13.32 Score=810;Name=V$CMYB_01 NA NA NA rs8110017 0.87 0.87 0.864 0.901158 0.7962 0.9216 0.8977 0.9796 0.8845 0.79 0.92 0.9 0.94 0.8663 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861544 NA NA 0.833166 0.942943 ID=COSM439803;OCCURENCE=1(breast) 0.819 NA 4.1710006 1235 20 1666989 1666989 C A intergenic SIRPG,LOC100289473 dist=28564;dist=87022 NA NA ncRNA_intronic ENSG00000223750 NA NA NA Score=309;Name=lod=24 NA 20p13 NA NA NA NA rs202535 0.85 0.85 0.832 0.858227 0.829 1 0.8718 0.7179 0.9223 0.81 1 0.85 0.71 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11578 NA NA NA NA NA 0.899 NA 4.171 1235 18 21100240 21100240 C T exonic C18orf8 NA synonymous SNV C18orf8:NM_001276342:exon8:c.C780T:p.P260P,C18orf8:NM_013326:exon10:c.C924T:p.P308P exonic ENSG00000141452 NA synonymous SNV ENSG00000141452:ENST00000590868:exon8:c.C780T:p.P260P,ENSG00000141452:ENST00000269221:exon10:c.C924T:p.P308P,ENSG00000141452:ENST00000590870:exon10:c.C924T:p.P308P NA NA 18q11.2 NA NA NA NA rs1367083 0.63 0.63 0.598 0.619409 0.4742 0.8849 0.6513 0.5522 0.5634 0.48 0.92 0.59 0.55 0.5444 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154365 NA NA 0.477093 0.538357 NA 0.601 NA 4.1709736 1235 19 49399821 49399821 G A intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA NA Name=2 NA rs12461075 0.27 0.27 0.27 0.285144 0.2714 0.0685 0.268 0.469 0.2863 0.28 0.08 0.28 0.49 0.273 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746059 NA NA 0.284884 0.42601 NA 0.304 NA 4.170716 1235 15 84782417 84782417 A C ncRNA_exonic EFTUD1P1 NA NA NA ncRNA_exonic ENSG00000259404 NA NA NA NA NA 15q25.2 NA NA NA NA rs11638297 0.15 0.15 0.132 0.131789 0.2724 0.0546 0.1772 0.0113 0.1973 0.28 0.06 0.2 0.02 0.2238 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341876 NA NA NA NA NA 0.13 NA 4.1704666 1235 4 6891435 6891435 G A intergenic KIAA0232,TBC1D14 dist=5536;dist=19736 NA NA intergenic ENSG00000170871,ENSG00000132405 dist=5538;dist=19534 NA NA NA NA 4p16.1 NA Name=GATA-1 NA NA rs11734099 0.24 0.24 0.217 0.197684 0.163 0.5298 0.1671 0.0166 0.1575 0.16 0.57 0.17 0.03 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290765 NA NA NA NA NA 0.138 NA 4.1703334 1235 4 6891455 6891455 T G intergenic KIAA0232,TBC1D14 dist=5556;dist=19716 NA NA intergenic ENSG00000170871,ENSG00000132405 dist=5558;dist=19514 NA NA NA NA 4p16.1 NA Name=GATA-1 NA NA rs11731274 0.24 0.24 0.208 0.203275 0.163 0.5308 0.1686 0.0363 0.1575 0.16 0.57 0.17 0.03 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253585 NA NA NA NA NA 0.145 NA 4.1703334 1235 16 97354 97354 A G UTR3 POLR3K NM_016310:c.*76T>C NA NA UTR3 ENSG00000161980 ENST00000293860:c.*76T>C NA NA NA NA 16p13.3 NA NA NA NA rs8466 0.15 0.15 0.143 0.16853 0.163 NA 0.1542 0.3729 0.0818 0.16 NA 0.14 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485856 NA NA NA NA NA 0.145 NA 4.1703334 1235 17 3343406 3343406 G A UTR3 SPATA22 NM_032598:c.*35C>T,NM_001170696:c.*35C>T,NM_001170695:c.*35C>T,NM_001170697:c.*35C>T,NM_001170699:c.*219C>T,NM_001170698:c.*35C>T NA NA UTR3 ENSG00000141255 ENST00000573128:c.*35C>T,ENST00000575375:c.*35C>T,ENST00000355380:c.*35C>T,ENST00000572969:c.*35C>T,ENST00000397168:c.*35C>T,ENST00000541913:c.*35C>T NA NA NA NA 17p13.2 NA NA NA NA rs2257732 0.03 0.03 0.027 0.019369 0.0606 NA 0.0303 0.0053 0.0082 0.05 NA 0.05 0.01 0.041 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652993 NA NA 0.061467 0.009305 NA 0.072 NA 4.1702664 1235 7 56718292 56718292 C T intergenic DKFZp434L192,LOC100130849 dist=153315;dist=224786 NA NA ncRNA_exonic ENSG00000228303 NA NA NA Score=284;Name=lod=19 NA 7p11.2 NA NA NA NA rs2634084 0.81 0.81 0.791 0.84405 0.83 0.628 0.8991 0.9652 0.8783 0.82 0.62 0.89 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.181324 NA NA NA NA NA 0.819 NA 4.17 1235 20 56064157 56064157 C T intergenic MIR5095,CTCFL dist=65879;dist=6864 NA NA upstream ENSG00000124097 NA NA NA Score=820;Name=lod=2867 NA 20q13.31 NA NA NA NA rs6128051 0.23 0.23 0.195 0.228235 0.33 0.2381 0.1816 0.0741 0.3548 0.34 0.23 0.19 0.09 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169524 NA NA NA NA NA 0.319 NA 4.17 1235 16 72153125 72153125 C G UTR3 PMFBP1 NM_031293:c.*112G>C,NM_001160213:c.*112G>C NA NA UTR3 ENSG00000118557 ENST00000237353:c.*112G>C,ENST00000537465:c.*578G>C,ENST00000355636:c.*112G>C,ENST00000379073:c.*3006G>C NA NA NA NA 16q22.2 NA NA NA NA rs4788459 0.08 0.08 0.072 0.0886581 0.164 0.0238 0.0648 0.0113 0.1994 0.18 0.02 0.07 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594438 NA NA NA NA NA 0.138 NA 4.1693334 1235 1 27652359 27652359 G A ncRNA_exonic LOC644961 NA NA NA intronic ENSG00000186501 NA NA NA NA NA 1p36.11 NA NA NA NA rs55663650 0.12 0.12 0.106 0.109625 0.164 0.1706 0.0965 0.0038 0.1431 0.17 0.15 0.11 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.582388 1.582388 NA NA NA NA 0.181 NA 4.1693333 1235 5 134782414 134782414 G T exonic C5orf20 NA synonymous SNV C5orf20:NM_130848:exon1:c.C385A:p.R129R exonic ENSG00000251380 NA synonymous SNV ENSG00000251380:ENST00000503143:exon1:c.C385A:p.R129R NA NA 5q31.1 NA NA NA NA rs12518053 0.62 0.62 0.639 0.651757 0.5149 0.5635 0.5548 0.9561 0.5409 0.5 0.55 0.51 0.95 0.5193 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155684 NA NA 0.463372 0.880163 NA 0.768 NA 4.1690946 1235 8 143694775 143694775 G C exonic ARC NA synonymous SNV ARC:NM_015193:exon1:c.C858G:p.R286R exonic ENSG00000198576 NA synonymous SNV ENSG00000198576:ENST00000356613:exon1:c.C858G:p.R286R NA NA 8q24.3 NA NA NA NA rs28686812 0.52 0.52 0.546 0.500599 0.508 0.3948 0.4928 0.5651 0.5204 0.52 0.4 0.56 0.61 0.5033 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050398 NA NA 0.486279 0.542215 NA 0.457 NA 4.1690876 1235 2 132384381 132384381 G A intergenic RNU6-81P,C2orf27A dist=23913;dist=95683 NA NA ncRNA_exonic ENSG00000204434 NA NA NA Score=884;Name=lod=5216 NA 2q21.1 NA NA NA NA rs12991373 0.39 0.39 0.379 0.391374 0.4155 0.3562 0.3746 0.3563 0.4622 0.41 0.4 0.41 0.33 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063907 NA NA 0.415462 0.363439 NA 0.203 NA 4.169038 1235 2 132384588 132384588 C G intergenic RNU6-81P,C2orf27A dist=24120;dist=95476 NA NA ncRNA_exonic ENSG00000204434 NA NA NA Score=884;Name=lod=5216 NA 2q21.1 NA NA NA NA rs13011674 0.39 0.39 0.328 0.390575 0.4155 0.3562 0.3746 0.3533 0.4622 0.41 0.4 0.41 0.33 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298299 NA NA 0.415462 0.362717 NA 0.014 NA 4.169038 1235 5 98016333 98016333 C G intergenic RIOK2,RGMB dist=1497328;dist=88666 NA NA ncRNA_exonic ENSG00000251553 NA NA NA Score=751;Name=lod=1506 NA 5q15 NA NA NA NA rs160710 0.76 0.76 0.747 0.708466 0.831 0.7192 0.8646 0.5764 0.6391 0.83 0.74 0.84 0.64 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06903 NA NA NA NA NA 0.696 NA 4.169 1235 19 17186127 17186127 A C intronic HAUS8 NA NA NA intronic ENSG00000131351 NA NA NA NA NA 19p13.11 NA Name=Oct-2,POU2F2,TAF1,E2F6_(H-50),E2F6,YY1_(C-20),TCF4,Pol2,NRSF,NFKB,HEY1,ZBTB7A_(SC-34508),TBP,Nrf1,Pol2(b),KAP1,Pol2-4H8,HA-E2F1,YY1 NA NA rs2305752 0.44 0.44 0.398 0.489417 0.4036 0.4067 0.5245 0.5151 0.6033 0.39 0.42 0.49 0.52 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.051498 NA NA 0.427718 0.510838 NA 0.514 NA 4.168682 1235 2 133014612 133014612 A C ncRNA_exonic MIR663B NA NA NA ncRNA_exonic ENSG00000221288 NA NA NA NA NA 2q21.2 NA NA NA NA rs74853538 NA NA 0.311 NA NA NA NA NA NA NA NA NA NA 0.498 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201814 NA NA NA NA NA 0.109 NA 4.1686666 1235 5 178986987 178986987 C T UTR5 RUFY1 NM_001040451:c.-53C>T NA NA UTR5 ENSG00000176783 ENST00000437570:c.-53C>T NA NA NA NA 5q35.3 NA Name=TAF1,Pol2,ZNF263,c-Myc NA NA rs12658664 0.49 0.49 0.499 0.496406 0.3519 0.7421 0.4769 0.4145 0.5164 0.35 0.75 0.48 0.43 0.4518 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.628263 1.628263 NA 0.361047 0.414889 NA 0.406 NA 4.1685864 1235 1 201772891 201772891 G A intronic NAV1 NA NA NA ncRNA_intronic ENSG00000231871 NA NA NA NA NA 1q32.1 NA NA NA NA rs41313906 0.03 0.03 0.023 0.0303514 0.0487 0.001 0.0533 0.0068 0.0573 0.05 NA 0.05 0.0041 0.0545 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.715778 NA NA 0.061628 0.019301 NA 0.022 NA 4.1685053 1235 2 133014602 133014602 G C ncRNA_exonic MIR663B NA NA NA ncRNA_exonic ENSG00000221288 NA NA NA NA NA 2q21.2 NA NA NA NA rs75245503 NA NA 0.298 NA NA NA NA NA NA NA NA NA NA 0.4982 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068219 NA NA NA NA NA 0.109 NA 4.1684666 1235 7 88389420 88389420 A G intronic ZNF804B NA NA NA intronic ENSG00000182348 NA NA NA NA NA 7q21.13 NA NA Name=7 NA rs1858848 0.37 0.37 0.378 0.408946 0.2813 0.3532 0.2867 0.6543 0.3528 0.25 0.33 0.3 0.66 0.2994 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030147 NA NA 0.25093 0.602587 ID=COSN168138;OCCURENCE=1(large_intestine) 0.42 NA 4.16837 1235 15 78207601 78207601 G A ncRNA_exonic LOC645752 NA NA NA ncRNA_exonic ENSG00000260776 NA NA NA NA NA 15q24.3 NA NA NA NA rs28451071 0.2 0.2 0.21 0.153554 0.2584 0.0476 0.1225 0.1997 0.1145 0.3 0.06 0.15 0.24 0.2399 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212902 NA NA NA NA NA 0.13 NA 4.1683666 1235 2 165349463 165349463 T C UTR3 GRB14 NM_004490:c.*83A>G NA NA UTR3 ENSG00000115290 ENST00000263915:c.*83A>G,ENST00000543549:c.*83A>G NA NA NA NA 2q24.3 NA NA NA NA rs11765 0.13 0.13 0.119 0.139177 0.165 0.0129 0.2334 0.1573 0.1513 0.17 0.01 0.2 0.16 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580119 NA NA NA NA NA 0.167 NA 4.1683334 1235 7 87151524 87151524 C G intronic ABCB1 NA NA NA ncRNA_exonic ENSG00000231956 NA NA NA NA NA 7q21.12 NA NA NA NA rs1882477 0.36 0.36 0.364 0.377995 0.165 0.4365 0.2392 0.6596 0.2546 0.15 0.47 0.23 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115473 NA NA NA NA NA 0.341 NA 4.1683333 1235 11 3713333 3713333 C T intronic NUP98 NA NA NA ncRNA_exonic ENSG00000238686 NA NA NA NA NA 11p15.4 NA NA NA NA rs111384916 0.11 0.11 0.084 0.091853 0.165 0.0258 0.1974 0.0356 0.0859 0.17 0.02 0.2 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514808 NA NA NA NA NA 0.094 NA 4.1683333 1235 14 71061844 71061844 G A intronic MED6 NA NA NA ncRNA_exonic ENSG00000258951 NA NA NA NA NA 14q24.2 NA NA NA NA rs7157685 0.34 0.34 0.358 0.352436 0.165 0.5258 0.183 0.556 0.2117 0.16 0.52 0.17 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712939 NA NA NA NA NA 0.333 NA 4.1683333 1235 5 98016723 98016723 C G intergenic RIOK2,RGMB dist=1497718;dist=88276 NA NA ncRNA_exonic ENSG00000251553 NA NA NA Score=751;Name=lod=1506 NA 5q15 NA NA NA NA rs184143 0.76 0.76 0.74 0.709065 0.832 0.7192 0.8646 0.5779 0.6391 0.83 0.74 0.84 0.64 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032997 NA NA NA NA NA 0.746 NA 4.168 1235 10 118509599 118509599 C T intergenic HSPA12A,ENO4 dist=7514;dist=99424 NA NA ncRNA_exonic ENSG00000228195 NA NA NA Score=783;Name=lod=2024 NA 10q25.3 NA NA NA NA rs10787728 0.65 0.65 0.619 0.646765 0.832 0.6012 0.7392 0.3238 0.8742 0.85 0.58 0.75 0.35 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332735 NA NA NA NA NA 0.565 NA 4.168 1235 22 22453513 22453513 C T intergenic TOP3B,VPREB1 dist=116366;dist=145687 NA NA exonic ENSG00000211638 NA nonsynonymous SNV ENSG00000211638:ENST00000390283:exon2:c.C259T:p.R87C NA NA 22q11.22 NA NA NA NA rs9611014 0.22 0.22 0.188 0.196286 0.2147 0.2946 0.3429 0.0106 0.2229 0.24 0.31 0.31 0.02 0.2362 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049772 NA NA 0.214508 0.053508 NA 0.101 NA 4.1679254 1235 15 41148199 41148199 C T exonic SPINT1 NA synonymous SNV SPINT1:NM_001032367:exon8:c.C1227T:p.Y409Y,SPINT1:NM_003710:exon9:c.C1227T:p.Y409Y,SPINT1:NM_181642:exon9:c.C1275T:p.Y425Y exonic ENSG00000166145 NA synonymous SNV ENSG00000166145:ENST00000564375:exon5:c.C576T:p.Y192Y,ENSG00000166145:ENST00000568580:exon7:c.C1128T:p.Y376Y,ENSG00000166145:ENST00000431806:exon8:c.C1227T:p.Y409Y,ENSG00000166145:ENST00000344051:exon9:c.C1275T:p.Y425Y,ENSG00000166145:ENST00000562057:exon9:c.C1227T:p.Y409Y NA NA 15q15.1 Score=893;Name=V$RFX1_02 NA NA NA rs659232 0.86 0.86 0.859 0.853834 0.829 0.9901 0.8905 0.7481 0.8558 0.82 0.99 0.89 0.76 0.852 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225241 NA NA 0.817791 0.767817 NA 0.862 NA 4.1678756 1235 2 43903354 43903354 T C exonic LOC728819 NA synonymous SNV LOC728819:NM_001101330:exon1:c.A108G:p.Q36Q ncRNA_exonic ENSG00000223658 NA NA NA NA NA 2p21 NA Name=SETDB1 NA NA rs4952675 0.51 0.51 0.495 0.502596 0.6859 0.1558 0.5115 0.5787 0.5624 0.68 0.17 0.57 0.59 0.6154 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292165 NA NA 0.697588 0.618744 ID=COSN166081;OCCURENCE=1(NS) 0.478 NA 4.1677786 1235 3 116746374 116746374 C T intergenic LSAMP-AS3,IGSF11 dist=310487;dist=1873105 NA NA intronic ENSG00000185565 NA NA NA Score=694;Name=lod=882 NA 3q13.31 NA NA NA NA rs35725689 NA NA 0.293 0.358227 0.499 0.2976 0.3314 0.3442 0.3139 NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232375 NA NA NA NA NA 0.341 NA 4.1676667 1235 1 43917409 43917409 T C UTR3 SZT2 NM_015284:c.*1258T>C NA NA UTR3 ENSG00000198198 ENST00000562955:c.*1258T>C,ENST00000372442:c.*1258T>C NA NA NA NA 1p34.2 NA NA Name=7 NA rs2251804 0.27 0.27 0.23 0.208067 0.4254 0.0754 0.3501 0.146 0.1043 0.43 0.07 0.38 0.17 0.3223 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073056 NA NA 0.418488 0.184521 NA 0.348 NA 4.1671454 1235 7 100553073 100553073 T A intergenic ACHE,MUC12 dist=59532;dist=59831 NA NA intronic ENSG00000169894 NA NA NA NA NA 7q22.1 NA Name=CTCF NA NA rs73714269 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458309 NA NA NA NA NA 0.493 NA 4.1667667 1235 6 57512792 57512792 T C intronic PRIM2 NA NA NA UTR3 ENSG00000146143 ENST00000607273:c.*579T>C NA NA NA NA 6p11.2 NA NA NA NA rs372064495 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72496 NA NA NA NA NA NA NA 4.1666667 1235 9 33385364 33385364 A T intronic AQP7 NA NA NA UTR3 ENSG00000165269 ENST00000537089:c.*252T>A,ENST00000379506:c.*252T>A,ENST00000539936:c.*252T>A NA NA NA NA 9p13.3 NA NA NA NA rs115119744 NA NA 0.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285971 NA NA NA NA NA NA NA 4.1666667 1235 9 135962502 135962502 T C downstream CELP NA NA NA ncRNA_exonic ENSG00000170827 NA NA NA NA NA 9q34.2 NA NA NA NA rs2975127 0.88 0.88 0.832 NA NA NA NA NA NA 0.89 0.99 0.91 0.71 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.726371 1.726371 NA NA NA NA 0.464 NA 4.1666666 1235 15 20874676 20874676 T C downstream NBEAP1 NA NA NA ncRNA_intronic ENSG00000258590 NA NA NA NA NA 15q11.2 NA NA NA NA rs28497407 NA NA 0.511 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224212 NA NA NA NA NA 0.464 NA 4.1666666 1235 15 21936464 21936464 C T ncRNA_exonic LOC646214 NA NA NA downstream ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs8025772 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.388336 1.388336 NA NA NA NA 0.254 NA 4.1666666 1235 15 21938163 21938163 T G ncRNA_exonic LOC646214 NA NA NA upstream ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs4247057 NA NA 0.482 NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761267 NA NA NA NA NA 0.536 NA 4.1666666 1235 15 21938209 21938209 C T ncRNA_exonic LOC646214 NA NA NA upstream ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs11248829 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880081 NA NA NA NA NA 0.203 NA 4.1666666 1235 16 32164335 32164335 G A upstream HERC2P4 NA NA NA ncRNA_intronic ENSG00000230267 NA NA NA NA NA 16p11.2 NA NA NA NA rs460199 NA NA 0.365 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269595 NA NA NA NA NA NA NA 4.1666666 1235 X 153010665 153010665 G A downstream ABCD1 NA NA NA ncRNA_intronic ENSG00000232725 NA NA NA NA NA Xq28 NA NA NA NA rs72616453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269505 NA NA NA NA NA 0.022 NA 4.1666666 1235 X 153010680 153010680 G C downstream ABCD1 NA NA NA ncRNA_intronic ENSG00000232725 NA NA NA NA NA Xq28 NA NA NA NA rs72616454 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991989 NA NA NA NA NA 0.022 NA 4.1666666 1235 6 57512565 57512565 T C exonic PRIM2 NA unknown UNKNOWN UTR3 ENSG00000146143 ENST00000607273:c.*352T>C NA NA NA NA 6p11.2 NA NA NA NA rs4294008 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5002 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.232856 NA 0.3 NA NA NA 0.493 NA 4.1664667 1235 3 47604086 47604086 T C UTR3 CSPG5 NM_001206943:c.*4A>G,NM_001206944:c.*114A>G,NM_001206942:c.*4A>G,NM_001206945:c.*4A>G,NM_006574:c.*4A>G NA NA UTR3 ENSG00000114646 ENST00000264723:c.*4A>G,ENST00000383738:c.*4A>G,ENST00000456150:c.*4A>G NA NA NA NA 3p21.31 NA NA NA NA rs116232180 0.03 0.03 0.017 0.0173722 0.0626 NA 0.0274 0.003 0.001 0.07 NA 0.04 0.01 0.0427 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340186 1.340186 NA 0.061744 0.013164 NA 0.116 NA 4.1662894 1235 17 51901084 51901084 A G exonic KIF2B NA synonymous SNV KIF2B:NM_032559:exon1:c.A690G:p.L230L exonic ENSG00000141200 NA synonymous SNV ENSG00000141200:ENST00000268919:exon1:c.A690G:p.L230L Score=460;Name=lod=99 NA 17q22 NA NA NA NA rs3803825 0.81 0.81 0.812 0.762181 0.841 0.8145 0.7651 0.789 0.589 0.84 0.8 0.78 0.8 0.8062 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597305 NA NA 0.853256 0.800953 NA 0.797 NA 4.1662106 1235 10 86004873 86004873 T C exonic RGR NA synonymous SNV RGR:NM_001012720:exon1:c.T27C:p.T9T,RGR:NM_001012722:exon1:c.T27C:p.T9T,RGR:NM_002921:exon1:c.T27C:p.T9T exonic ENSG00000148604 NA synonymous SNV ENSG00000148604:ENST00000358110:exon1:c.T27C:p.T9T,ENSG00000148604:ENST00000359452:exon1:c.T27C:p.T9T,ENSG00000148604:ENST00000372092:exon1:c.T27C:p.T9T NA NA 10q23.1 NA NA NA NA rs2279227 0.6 0.6 0.608 0.633586 0.4911 0.495 0.5879 0.9773 0.4908 0.49 0.45 0.58 0.97 0.5312 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257496 NA NA 0.478256 0.89832 NA 0.652 NA 4.1661106 1235 13 111589204 111589204 G C intergenic ANKRD10,ARHGEF7 dist=21788;dist=178420 NA NA ncRNA_exonic ENSG00000227105 NA NA NA Score=626;Name=lod=468 NA 13q34 NA NA NA NA rs9515317 0.83 0.83 0.814 0.810703 0.834 0.9256 0.8141 0.7231 0.7843 0.82 0.93 0.81 0.72 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717155 NA NA NA NA NA 0.862 NA 4.166 1235 13 111589278 111589278 G A intergenic ANKRD10,ARHGEF7 dist=21862;dist=178346 NA NA ncRNA_exonic ENSG00000227105 NA NA NA Score=626;Name=lod=468 NA 13q34 NA NA NA NA rs2391884 0.82 0.82 0.811 0.802117 0.834 0.9256 0.8127 0.6914 0.7843 0.82 0.93 0.81 0.69 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.765795 NA NA NA NA NA 0.855 NA 4.166 1235 13 111590930 111590930 C T intergenic ANKRD10,ARHGEF7 dist=23514;dist=176694 NA NA ncRNA_exonic ENSG00000227105 NA NA NA Score=662;Name=lod=651 NA 13q34 NA NA NA NA rs7332577 0.82 0.82 0.813 0.801318 0.834 0.9256 0.8156 0.6861 0.7853 0.82 0.93 0.82 0.68 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.279925 NA NA NA NA NA 0.841 NA 4.166 1235 20 42815190 42815190 G A exonic JPH2 NA synonymous SNV JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y exonic ENSG00000149596 NA synonymous SNV ENSG00000149596:ENST00000342272:exon1:c.C156T:p.Y52Y,ENSG00000149596:ENST00000372980:exon1:c.C156T:p.Y52Y Score=700;Name=lod=933 NA 20q13.12 NA NA NA NA rs1883790 0.84 0.84 0.829 0.854233 0.827 0.745 0.8948 0.9607 0.8221 0.83 0.74 0.87 0.95 0.845 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829541 NA NA 0.829302 0.938493 NA 0.783 NA 4.1653646 1235 21 42824733 42824733 G A exonic MX1 NA synonymous SNV MX1:NM_001178046:exon14:c.G1695A:p.Q565Q,MX1:NM_002462:exon16:c.G1695A:p.Q565Q,MX1:NM_001144925:exon18:c.G1695A:p.Q565Q exonic ENSG00000157601 NA synonymous SNV ENSG00000157601:ENST00000288383:exon12:c.G1626A:p.Q542Q,ENSG00000157601:ENST00000455164:exon14:c.G1695A:p.Q565Q,ENSG00000157601:ENST00000398598:exon16:c.G1695A:p.Q565Q,ENSG00000157601:ENST00000398600:exon18:c.G1695A:p.Q565Q NA NA 21q22.3 NA NA NA NA rs469304 0.27 0.27 0.259 0.266973 0.5348 0.006 0.3127 0.1641 0.3671 0.51 0.0017 0.34 0.16 0.42 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412135 NA NA 0.546512 0.218793 NA 0.319 NA 4.1653546 1235 3 86063365 86063365 G A intronic CADM2 NA NA NA ncRNA_exonic ENSG00000243915 NA NA NA NA NA 3p12.1 NA NA NA NA rs9810010 0.24 0.24 0.236 0.267971 0.168 0.3046 0.1988 0.3321 0.2955 0.16 0.32 0.2 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78979 NA NA NA NA NA 0.246 NA 4.1653333 1235 19 19381728 19381728 G C intronic TM6SF2 NA NA NA ncRNA_intronic ENSG00000267629 NA NA NA NA NA 19p13.11 NA NA NA NA rs2074302 0.16 0.16 0.179 0.161741 0.168 0.0198 0.1282 0.2995 0.1391 0.15 0.02 0.14 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62927 NA NA NA NA NA 0.246 NA 4.1653333 1235 1 67744500 67744500 C G intergenic IL23R,IL12RB2 dist=18850;dist=28547 NA NA downstream ENSG00000228523 NA NA NA Score=632;Name=lod=494 NA 1p31.3 NA NA NA NA rs11209033 0.33 0.33 0.315 0.355631 0.335 0.501 0.2305 0.2027 0.5225 0.34 0.46 0.24 0.22 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75354 NA NA NA NA NA 0.304 NA 4.165 1235 1 151400942 151400942 A C intronic POGZ NA NA NA intronic ENSG00000143442 NA NA NA NA NA 1q21.3 Score=909;Name=V$TATA_C NA NA NA rs11204811 0.51 0.51 0.507 0.503195 0.835 0.2113 0.4683 0.3729 0.6636 0.84 0.18 0.52 0.36 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236146 NA NA NA NA NA 0.601 NA 4.165 1236 1 157489516 157489516 T G intronic FCRL5 NA NA NA intronic ENSG00000143297 NA NA NA NA NA 1q23.1 NA NA Name=5 NA rs1332714 0.16 0.16 0.149 0.161342 0.2744 0.1181 0.1787 0.0159 0.274 0.29 0.09 0.22 0.02 0.2624 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.710608 NA NA 0.298256 0.057876 NA 0.167 NA 4.164944 1236 7 131191536 131191536 A G intronic PODXL NA NA NA intronic ENSG00000128567 NA NA NA NA NA 7q32.3 NA Name=CTCF,CTCF_(SC-5916),Pol2-4H8 Name=9 NA rs3212303 0.58 0.58 0.542 0.572284 0.6412 0.4921 0.621 0.4796 0.6748 0.63 0.51 0.7 0.5 0.5945 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390343 NA NA 0.599535 0.470949 NA 0.464 NA 4.164765 1236 6 97613163 97613163 T C exonic MMS22L NA synonymous SNV MMS22L:NM_198468:exon21:c.A3180G:p.P1060P exonic ENSG00000146263 NA synonymous SNV ENSG00000146263:ENST00000369251:exon19:c.A3060G:p.P1020P,ENSG00000146263:ENST00000275053:exon21:c.A3180G:p.P1060P NA NA 6q16.1 NA NA NA NA rs1209290 0.45 0.45 0.467 0.510783 0.497 0.246 0.4078 0.7209 0.5869 0.49 0.22 0.41 0.71 0.4923 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.297563 NA NA 0.512791 0.677031 NA 0.558 NA 4.1645756 1236 15 52486306 52486306 C T intronic MYO5C NA NA NA ncRNA_intronic ENSG00000259577 NA NA NA NA NA 15q21.2 NA NA NA NA rs11855672 0.14 0.14 0.122 0.151158 0.169 0.0883 0.2839 0.093 0.182 0.16 0.08 0.27 0.1 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776793 NA NA NA NA NA 0.181 NA 4.1643333 1236 5 98016834 98016834 A G intergenic RIOK2,RGMB dist=1497829;dist=88165 NA NA ncRNA_exonic ENSG00000251553 NA NA NA Score=751;Name=lod=1506 NA 5q15 NA NA NA NA rs160714 0.82 0.82 0.8 0.778554 0.836 0.7847 0.8746 0.7542 0.6779 0.83 0.8 0.86 0.78 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108998 NA NA NA NA NA 0.848 NA 4.164 1236 17 14608855 14608855 A G intergenic HS3ST3B1,CDRT7 dist=359363;dist=325437 NA NA upstream ENSG00000230897 NA NA NA Score=727;Name=lod=1199 NA 17p12 NA NA NA NA rs4791597 0.37 0.37 0.328 0.407348 0.336 0.121 0.4856 0.7315 0.2822 0.33 0.1 0.41 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257533 NA NA NA NA NA 0.377 NA 4.164 1236 6 29141772 29141772 A G exonic OR2J2 NA synonymous SNV OR2J2:NM_030905:exon1:c.A360G:p.S120S exonic ENSG00000204700 NA synonymous SNV ENSG00000204700:ENST00000377167:exon1:c.A360G:p.S120S Score=454;Name=lod=93 NA 6p22.1 NA NA NA NA rs3129158 0.75 0.75 0.759 0.749201 0.832 0.5942 0.7493 0.7685 0.7975 0.86 0.57 0.74 0.8 0.819 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066355 NA NA 0.851693 0.802018 NA 0.79 NA 4.1639736 1236 14 24572495 24572495 G C intronic PCK2 NA NA NA intronic ENSG00000100889,ENSG00000129535 NA NA NA NA NA 14q11.2 NA Name=Pol2 NA NA rs2071586 0.44 0.44 0.472 0.491014 0.2565 0.6349 0.2795 0.6944 0.4591 0.26 0.61 0.28 0.65 0.3467 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630144 NA NA 0.23314 0.599183 NA 0.283 NA 4.16366 1236 1 206666734 206666734 T G intronic IKBKE NA NA NA intronic ENSG00000143466,ENSG00000162888 NA NA NA NA NA 1q32.1 NA NA Name=2 NA rs12026566 0.29 0.29 0.25 0.293131 0.2763 0.244 0.3487 0.3782 0.2065 0.27 0.23 0.39 0.33 0.2764 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.098364 2.098364 NA 0.283721 0.344984 NA 0.268 NA 4.163579 1236 7 149515754 149515754 A G exonic SSPO NA synonymous SNV SSPO:NM_198455:exon83:c.A11655G:p.P3885P ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs740113 0.46 0.46 0.468 0.490615 0.3042 0.4187 0.3919 0.8585 0.3292 0.29 0.42 0.4 0.84 0.3742 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.041053 NA NA 0.324782 0.743408 NA 0.5 NA 4.1634846 1236 19 48304907 48304907 C T UTR3 TPRX1 NM_198479:c.*125G>A NA NA UTR3 ENSG00000178928 ENST00000535759:c.*125G>A,ENST00000322175:c.*125G>A,ENST00000543508:c.*125G>A NA NA NA NA 19q13.33 NA NA NA NA rs111411093 0.08 0.08 0.073 0.0670927 0.17 0.0139 0.0749 0.0023 0.0982 0.17 0.01 0.08 0.0041 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427546 NA NA NA NA NA 0.036 NA 4.1633334 1236 10 134910629 134910629 G A intronic GPR123 NA NA NA intronic ENSG00000197177 NA NA NA NA NA 10q26.3 NA Name=Rad21,CTCF,CTCF_(SC-5916) NA NA rs11101914 0.37 0.37 0.367 0.381589 0.2674 0.5893 0.3357 0.2466 0.5 0.28 0.65 0.31 0.24 0.3216 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248576 NA NA 0.247674 0.241716 NA 0.355 NA 4.163326 1236 3 87101747 87101747 G A intergenic VGLL3,MIR4795 dist=61490;dist=173592 NA NA ncRNA_exonic ENSG00000241293 NA NA NA Score=568;Name=lod=271 NA 3p12.1 NA NA NA NA rs2660745 0.73 0.73 0.713 0.707268 0.837 0.7024 0.8271 0.5038 0.7689 0.85 0.7 0.81 0.5 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538473 NA NA NA NA NA 0.739 NA 4.163 1236 16 71792696 71792696 C A intronic AP1G1 NA NA NA intronic ENSG00000166747 NA NA NA NA NA 16q22.2 NA Name=USF-1,FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs12919271 0.18 0.18 0.166 0.14976 0.3022 0.0407 0.1671 0.093 0.1697 0.32 0.05 0.21 0.11 0.2326 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0802 NA NA 0.30228 0.116523 NA 0.21 NA 4.16292 1236 17 73228099 73228099 A G intronic NUP85 NA NA NA UTR3 ENSG00000125450 ENST00000578830:c.*405A>G NA NA NA NA 17q25.1 NA NA NA NA rs114092578 0.01 0.01 0.012 0.0133786 NA NA 0.0029 0.0492 NA 0.0013 NA NA 0.05 0.0035 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211654 NA NA 0.000465 0.040172 NA NA NA 4.1627017 1236 11 6815836 6815836 T A UTR3 OR6A2 NM_003696:c.*120A>T NA NA UTR3 ENSG00000184933 ENST00000332601:c.*120A>T NA NA NA NA 11p15.4 NA NA NA NA rs521312 0.14 0.14 0.144 0.150559 0.171 0.1796 0.098 0.0643 0.2536 0.17 0.17 0.11 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023424 NA NA NA NA NA 0.072 NA 4.1623334 1236 1 152185500 152185500 C G UTR3 HRNR NM_001009931:c.*52G>C NA NA ncRNA_UTR3 ENSG00000197915 NA NA NA NA NA 1q21.3 NA NA NA NA rs12726613 0.34 0.34 0.326 0.377396 0.17 0.619 0.4265 0.2428 0.4888 0.18 0.63 0.35 0.26 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.276044 NA NA 0.167924 0.248284 NA 0.246 NA 4.162076 1236 17 46868710 46868710 C T intronic TTLL6 NA NA NA intronic ENSG00000170703 NA NA NA NA NA 17q21.32 NA Name=PU.1,CTCF,KAP1,AP-2gamma NA NA rs3887854 0.28 0.28 0.255 0.273562 0.2714 0.1895 0.4006 0.354 0.1636 0.27 0.18 0.39 0.34 0.2915 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140995 NA NA 0.275116 0.340445 NA 0.333 NA 4.161984 1236 11 113283459 113283459 G A exonic DRD2 NA synonymous SNV DRD2:NM_016574:exon6:c.C870T:p.P290P,DRD2:NM_000795:exon7:c.C957T:p.P319P exonic ENSG00000149295 NA synonymous SNV ENSG00000149295:ENST00000346454:exon6:c.C870T:p.P290P,ENSG00000149295:ENST00000542968:exon6:c.C957T:p.P319P,ENSG00000149295:ENST00000544518:exon6:c.C954T:p.P318P,ENSG00000149295:ENST00000362072:exon7:c.C957T:p.P319P,ENSG00000149295:ENST00000538967:exon7:c.C963T:p.P321P,ENSG00000149295:ENST00000355319:exon8:c.C963T:p.P321P NA NA 11q23.2 NA NA NA NA rs6277 0.27 0.27 0.252 0.24401 0.5437 0.0625 0.3256 0.0552 0.32 0.54 0.06 0.37 0.04 0.4158 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23624 NA NA 0.545275 0.142662 NA 0.203 NA 4.1618916 1236 7 147869670 147869670 T C ncRNA_intronic MIR548T NA NA NA intronic ENSG00000174469 NA NA NA NA NA 7q35 NA NA NA NA rs2074711 0.29 0.29 0.248 0.320887 0.172 0.5188 0.3487 0.202 0.411 0.17 0.49 0.31 0.21 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.208583 3.208583 NA NA NA NA 0.188 NA 4.1613333 1236 3 183211906 183211906 A G exonic KLHL6 NA synonymous SNV KLHL6:NM_130446:exon5:c.T1311C:p.N437N exonic ENSG00000172578 NA synonymous SNV ENSG00000172578:ENST00000341319:exon5:c.T1311C:p.N437N,ENSG00000172578:ENST00000468734:exon5:c.T1278C:p.N426N NA NA 3q27.1 NA NA NA NA rs1520101 0.67 0.67 0.694 0.697883 0.4771 0.8006 0.5793 0.8722 0.6677 0.47 0.81 0.62 0.84 0.561 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177883 NA NA 0.467558 0.803223 NA 0.681 NA 4.1610086 1236 19 1030956 1030956 G C intronic CNN2 NA NA NA intronic ENSG00000064666 NA NA NA NA NA 19p13.3 NA Name=Pol2,TAL1_(SC-12984),HA-E2F1,Egr-1 NA NA rs7256075 0.89 0.89 0.904 0.888578 0.839 0.998 0.7795 0.879 0.9172 0.85 1 0.83 0.87 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081905 NA NA NA NA NA 0.841 NA 4.161 1236 3 128292213 128292213 A G exonic C3orf27 NA synonymous SNV C3orf27:NM_007354:exon3:c.T360C:p.S120S exonic ENSG00000198685 NA synonymous SNV ENSG00000198685:ENST00000356020:exon3:c.T360C:p.S120S NA NA 3q21.3 NA NA Name=6 NA rs2734046 0.83 0.83 0.845 0.828874 0.838 0.6825 0.8141 0.9856 0.7689 0.85 0.7 0.82 0.97 0.8241 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04204 NA NA 0.843721 0.963686 NA 0.906 NA 4.1608456 1236 13 24890050 24890050 G A intronic C1QTNF9 NA NA NA ncRNA_exonic ENSG00000240868 NA NA NA NA NA 13q12.12 NA NA NA NA rs114252282 0.11 0.11 0.082 0.0994409 0.173 NA 0.1124 0.1505 0.0481 0.17 NA 0.12 0.13 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151837 NA NA NA NA NA 0.072 NA 4.1603333 1236 15 79852757 79852757 A G intergenic KIAA1024,MTHFS dist=88115;dist=283132 NA NA upstream ENSG00000259493 NA NA NA Score=794;Name=lod=2243 NA 15q25.1 NA NA NA NA rs1685165 0.41 0.41 0.432 0.459265 0.34 0.3264 0.5317 0.5303 0.5716 0.34 0.33 0.48 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207089 NA NA NA NA NA 0.399 NA 4.16 1236 16 281299 281299 G A intergenic LUC7L,ITFG3 dist=1850;dist=3502 NA NA ncRNA_exonic ENSG00000206168 NA NA NA Score=304;Name=lod=23 NA 16p13.3 NA NA NA NA rs3760047 0.8 0.8 0.778 0.777356 0.84 0.8343 0.7911 0.7262 0.7137 0.83 0.82 0.77 0.74 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709846 NA NA NA NA NA 0.79 NA 4.16 1236 16 16256767 16256767 T G intronic ABCC6 NA NA NA intronic ENSG00000091262 NA NA NA NA Name=IgG glycosylation 16p13.11 NA NA NA NA rs3213473 0.74 0.74 0.688 0.726238 0.84 0.875 0.7911 0.3449 0.9254 0.84 0.88 0.79 0.36 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284003 NA NA NA NA NA 0.717 NA 4.16 1236 7 87151658 87151658 C T intronic ABCB1 NA NA NA ncRNA_exonic ENSG00000231956 NA NA NA NA NA 7q21.12 NA NA NA NA rs2373589 0.32 0.32 0.317 0.309305 0.174 0.4583 0.2205 0.4054 0.228 0.16 0.48 0.22 0.43 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505428 NA NA NA NA NA 0.29 NA 4.1593333 1236 2 152382454 152382454 C G intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA Name=3 NA rs6721666 0.61 0.61 0.583 0.545727 0.6233 0.5694 0.67 0.5068 0.4059 0.61 0.62 0.68 0.55 0.5943 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213941 NA NA 0.623244 0.536991 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081122.1;CLNDSDB=.;CLNDSDBID=. 4.159156 1236 13 44545226 44545226 C A intergenic LACC1,LINC00284 dist=77158;dist=51245 NA NA ncRNA_exonic ENSG00000179611 NA NA NA Score=643;Name=lod=546 NA 13q14.11 NA NA NA NA rs3794438 0.76 0.76 0.723 0.716653 0.841 0.8532 0.8357 0.4312 0.7495 0.84 0.86 0.82 0.48 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593481 NA NA NA NA NA 0.725 NA 4.159 1236 3 159976271 159976271 C T UTR3 IFT80 NM_001190241:c.*42G>A,NM_001190242:c.*42G>A,NM_020800:c.*42G>A NA NA UTR3 ENSG00000068885,ENSG00000248710 ENST00000326448:c.*42G>A,ENST00000483465:c.*42G>A,ENST00000496589:c.*42G>A;ENST00000483754:c.*42G>A NA NA NA NA 3q25.33 NA NA NA NA rs16831149 0.15 0.15 0.175 0.169928 0.0507 0.0288 0.0836 0.5257 0.0184 0.05 0.02 0.08 0.52 0.075 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.508056 NA NA 0.048732 0.414396 NA 0.145 NA 4.1589014 1236 17 10409277 10409277 G A intronic MYH1 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs114149575 0.03 0.03 0.038 0.0371406 0.0497 0.001 0.0331 0.0545 0.0409 0.05 0.0017 0.03 0.04 0.0551 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.669153 NA NA 0.069884 0.051294 NA 0.014 NA 4.1586493 1236 2 26679394 26679394 G A UTR3 DRC1 NM_145038:c.*9G>A NA NA UTR3 ENSG00000157856 ENST00000288710:c.*9G>A NA NA NA NA 2p23.3 NA NA NA NA rs1054737 0.03 0.03 0.029 0.0265575 0.0606 NA 0.0288 0.0204 0.0256 0.06 NA 0.03 0.01 0.0446 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.854586 1.854586 NA 0.069651 0.034725 NA 0.109 NA 4.1584824 1236 6 32164874 32164874 C A intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA NA 6p21.32 NA Name=GATA-1 NA NA rs2071279 0.22 0.22 0.205 0.208067 0.2833 0.1667 0.255 0.112 0.2699 0.27 0.19 0.28 0.12 0.2839 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.146529 NA NA 0.274456 0.132694 NA 0.297 NA 4.158344 1236 11 9450377 9450377 T G ncRNA_exonic SNORA23 NA NA NA ncRNA_exonic ENSG00000201998 NA NA NA Score=489;Name=lod=130 NA 11p15.4 NA NA NA NA rs2290423 0.46 0.46 0.439 0.452676 0.5229 0.2927 0.5173 0.525 0.4018 0.5 0.3 0.52 0.53 0.4749 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.7825 2.7825 NA 0.510826 0.506865 NA 0.558 NA 4.1580406 1236 1 237951482 237951482 G A intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA Name=MafK_(ab50322) NA NA rs16835818 0.3 0.3 0.319 0.297923 0.2773 0.1171 0.1974 0.5772 0.1994 0.28 0.12 0.21 0.6 0.2788 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523876 NA NA 0.286093 0.505673 NA 0.312 NA 4.157807 1236 12 9316907 9316907 C T intronic PZP NA NA NA intronic ENSG00000126838 NA NA NA NA NA 12p13.31 NA NA Name=12 NA rs1863839 0.39 0.39 0.396 NA NA NA NA NA NA 0.38 0.42 0.38 0.37 0.41 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19288 NA NA 0.432222 0.420497 NA 0.377 NA 4.157778 1236 3 12198485 12198485 A T intronic SYN2,TIMP4 NA NA NA ncRNA_intronic ENSG00000157152 NA NA NA NA NA 3p25.2 NA NA NA NA rs10433537 0.04 0.04 0.038 0.0347444 0.0547 0.0248 0.0303 0.0166 0.0521 0.06 0.03 0.04 0.02 0.0551 0.066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422736 NA NA 0.066062 0.030186 NA 0.058 NA 4.1574713 1236 22 45258539 45258539 G A UTR3 ARHGAP8,PRR5-ARHGAP8 NM_181335:c.*64G>A,NM_001017526:c.*64G>A,NM_001198726:c.*344G>A;NM_181334:c.*64G>A NA NA UTR3 ENSG00000241484,ENSG00000248405 ENST00000517296:c.*64G>A,ENST00000389773:c.*64G>A,ENST00000389774:c.*64G>A,ENST00000336963:c.*344G>A,ENST00000356099:c.*64G>A,ENST00000389772:c.*1191G>A;ENST00000361473:c.*64G>A,ENST00000352766:c.*64G>A,ENST00000515632:c.*64G>A NA NA NA NA 22q13.31 NA NA NA NA rs2071763 0.21 0.21 0.194 0.223043 0.1759 0.3145 0.2493 0.09 0.3384 0.17 0.35 0.26 0.09 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182182 NA NA NA NA NA 0.116 NA 4.1574334 1236 4 4304337 4304337 C T exonic ZBTB49 NA synonymous SNV ZBTB49:NM_145291:exon3:c.C774T:p.A258A exonic ENSG00000168826 NA synonymous SNV ENSG00000168826:ENST00000337872:exon3:c.C774T:p.A258A,ENSG00000168826:ENST00000355834:exon3:c.C774T:p.A258A,ENSG00000168826:ENST00000515012:exon3:c.C774T:p.A258A NA NA 4p16.3 NA NA Name=9 NA rs2916382 0.82 0.82 0.8 0.799521 0.8489 0.7629 0.8761 0.7602 0.7853 0.85 0.76 0.86 0.8 0.8263 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652471 NA NA 0.83407 0.788697 NA 0.819 NA 4.1573966 1236 8 108185425 108185425 C T intergenic ABRA,ANGPT1 dist=402953;dist=76285 NA NA downstream ENSG00000254146 NA NA NA Score=741;Name=lod=1370 NA 8q23.1 NA NA NA NA rs7829806 0.48 0.48 0.464 0.488419 0.3429 0.5615 0.4207 0.5885 0.4755 0.36 0.59 0.43 0.57 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438219 NA NA NA NA NA 0.486 NA 4.1571 1236 6 38906072 38906072 A G ncRNA_intronic LOC100131047 NA NA NA ncRNA_intronic ENSG00000231150 NA NA NA NA NA 6p21.2 NA NA NA NA rs2073037 0.41 0.41 0.389 0.396965 0.5099 0.3363 0.4337 0.3064 0.4397 0.5 0.33 0.47 0.32 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.376421 2.376421 NA NA NA NA 0.399 NA 4.1567666 1236 14 70714027 70714027 A T ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs28562608 0.28 0.28 0.146 0.366414 0.5099 0.1647 0.5216 0.2617 0.4581 0.37 0.14 0.44 0.2 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.534689 NA NA NA NA NA NA NA 4.1567666 1236 5 80382806 80382806 G T intronic RASGRF2 NA NA NA intronic ENSG00000113319 NA NA NA NA NA 5q14.1 NA Name=USF-1 NA NA rs7733625 0.26 0.26 0.235 0.254193 0.2883 0.2698 0.3213 0.1967 0.2331 0.28 0.25 0.33 0.19 0.2668 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529748 NA NA 0.28814 0.200409 NA 0.246 NA 4.15676 1236 1 94549029 94549029 A G intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs526016 0.23 0.23 0.217 0.197684 0.2903 0.2292 0.2824 0.0885 0.1575 0.29 0.21 0.28 0.11 0.2461 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.71916 1.71916 NA 0.30712 0.123122 NA 0.246 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085868.1;CLNDSDB=.;CLNDSDBID=. 4.15648 1236 1 6257826 6257826 T C intronic RPL22 NA NA NA intronic ENSG00000116251 NA NA NA Score=594;Name=lod=347 NA 1p36.31 NA NA NA NA rs2294714 0.38 0.38 0.36 0.360224 0.2773 0.4554 0.3343 0.441 0.2566 0.28 0.47 0.34 0.45 0.3163 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939472 NA NA 0.250116 0.427372 NA 0.333 NA 4.156284 1236 2 132796480 132796480 G A intergenic C2orf27B,ANKRD30BL dist=237246;dist=108684 NA NA upstream ENSG00000226886 NA NA NA NA NA 2q21.2 NA NA Name=9 NA rs58905578 0.42 0.42 0.362 0.432708 0.3439 0.5754 0.5245 0.292 0.502 0.34 0.56 0.48 0.32 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853724 NA NA NA NA NA NA NA 4.1561 1236 3 87100988 87100988 T C intergenic VGLL3,MIR4795 dist=60731;dist=174351 NA NA ncRNA_exonic ENSG00000241293 NA NA NA Score=737;Name=lod=1320 NA 3p12.1 NA NA NA NA rs2256479 0.69 0.69 0.661 0.671526 0.8439 0.6766 0.8112 0.3911 0.7689 0.86 0.67 0.8 0.37 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061586 NA NA NA NA NA 0.674 NA 4.1561 1236 17 16725570 16725570 G A intergenic USP32P1,KRT16P2 dist=17751;dist=8227 NA NA ncRNA_exonic ENSG00000226145 NA NA NA Score=399;Name=lod=56 NA 17p11.2 NA NA NA NA rs2621711 0.85 0.85 0.92 0.933107 0.8439 0.999 0.9092 0.9501 0.9509 0.82 0.86 0.86 0.85 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050974 NA NA NA NA NA 0.42 NA 4.1561 1236 11 64000410 64000410 C G intronic DNAJC4 NA NA NA ncRNA_intronic ENSG00000256116 NA NA NA NA NA 11q13.1 NA NA NA NA rs1058735 0.17 0.17 0.146 0.15615 0.1779 0.1875 0.3184 0.0915 0.0736 0.18 0.18 0.28 0.08 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500633 NA NA NA NA NA 0.116 NA 4.1554333 1236 15 89195526 89195526 A G exonic ISG20 NA synonymous SNV ISG20:NM_002201:exon3:c.A414G:p.L138L exonic ENSG00000172183 NA synonymous SNV ENSG00000172183:ENST00000306072:exon3:c.A414G:p.L138L,ENSG00000172183:ENST00000559876:exon3:c.A354G:p.L118L,ENSG00000172183:ENST00000560741:exon3:c.A414G:p.L138L NA NA 15q26.1 NA Name=ZNF263 NA NA rs1137166 0.79 0.79 0.82 0.795327 0.831 0.7341 0.7522 0.77 0.8865 0.81 0.78 0.76 0.8 0.8239 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06674 NA NA 0.856362 0.767045 ID=COSM1129072;OCCURENCE=1(prostate) 0.797 NA 4.1554046 1236 17 16724049 16724049 C T intergenic USP32P1,KRT16P2 dist=16230;dist=9748 NA NA ncRNA_exonic ENSG00000226145 NA NA NA Score=389;Name=lod=51 NA 17p11.2 NA NA NA NA rs2688020 0.9 0.9 0.928 0.932708 0.8449 1 0.9092 0.9455 0.953 0.85 0.99 0.91 0.87 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01884 NA NA NA NA NA 0.862 NA 4.1551 1236 19 53714867 53714867 C G intergenic ZNF665,ZNF818P dist=18248;dist=1334 NA NA downstream ENSG00000269051 NA NA NA NA NA 19q13.42 NA Name=ZNF274 NA NA rs4801970 0.43 0.43 0.431 0.440495 0.3449 0.7312 0.379 0.2322 0.5644 0.33 0.72 0.38 0.3 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421484 NA NA NA NA NA 0.399 NA 4.1551 1237 10 97605057 97605057 C G ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_intronic ENSG00000226688,ENSG00000240527 NA NA NA NA NA 10q24.1 NA NA NA NA rs7074403 0.48 0.48 0.476 0.500599 0.5119 0.251 0.6527 0.5295 0.5992 0.52 0.26 0.64 0.57 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560826 NA NA NA NA ID=COSN163719;OCCURENCE=1(breast) 0.543 NA 4.1547666 1237 6 30080036 30080036 G A intronic TRIM31 NA NA NA ncRNA_intronic ENSG00000231226 NA NA NA NA NA 6p22.1 NA NA NA NA rs3734837 0.17 0.17 0.166 0.170527 0.1789 0.3512 0.098 0.0113 0.2423 0.18 0.33 0.12 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.978546 NA NA NA NA NA 0.261 NA 4.1544333 1237 11 9830595 9830595 G A ncRNA_exonic SBF2-AS1 NA NA NA ncRNA_exonic ENSG00000246273 NA NA NA NA NA 11p15.4 NA NA Name=64 NA rs11042500 0.3 0.3 0.287 0.254792 0.5368 0.006 0.3055 0.1846 0.2802 0.55 0.01 0.34 0.23 0.4274 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604988 NA NA 0.548323 0.256701 NA 0.37 NA 4.1541436 1237 22 30736911 30736911 G A intronic SF3A1 NA NA NA intronic ENSG00000099995 NA NA NA NA NA 22q12.2 NA NA Name=5 NA rs5749066 0.9 0.9 0.911 0.910543 0.8459 0.9157 0.8573 0.9879 0.9049 0.85 0.91 0.87 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585796 NA NA NA NA NA 0.949 NA 4.1541 1237 12 114832510 114832510 C A intronic TBX5 NA NA NA intronic ENSG00000089225 NA NA NA NA NA 12q24.21 NA NA Name=8 NA rs2236017 0.51 0.51 0.495 0.528754 0.6054 0.3502 0.7032 0.3933 0.6933 0.6 0.37 0.68 0.4 0.6101 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166775 NA NA 0.630698 0.427826 NA 0.514 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000128533.1;CLNDSDB=.;CLNDSDBID=. 4.153802 1237 9 95766471 95766471 A T intronic FGD3 NA NA NA intronic ENSG00000127084 NA NA NA NA NA 9q22.31 NA Name=CTCF,Pol2 Name=3 NA rs6479445 0.69 0.69 0.708 0.707867 0.6054 0.5615 0.647 0.9448 0.6871 0.6 0.59 0.68 0.95 0.6308 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466138 NA NA 0.610013 0.905744 NA 0.739 NA 4.153787 1237 12 52661196 52661196 G A intergenic KRT7,KRT81 dist=18487;dist=18501 NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA NA NA NA rs2077346 0.17 0.17 0.17 0.188099 0.2704 0.0962 0.1787 0.1248 0.2904 0.26 0.09 0.19 0.12 0.2428 0.26 0.18 T . . . . . . . . . . . . -1.023 T 0.000 T . -1.14 0.11 -0.137 0.063 -0.013 7.278 -1.140066 NA NA NA NA NA 0.167 NA 4.1534667 1237 13 75814344 75814344 C A ncRNA_exonic CTAGE11P NA NA NA ncRNA_exonic ENSG00000214249 NA NA NA NA NA 13q22.2 NA NA NA NA rs61960514 0.16 0.16 0.141 0.124401 0.2982 0.0546 0.1916 0.0318 0.0951 0.28 0.06 0.21 0.04 0.2156 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011337 NA NA NA NA NA 0.254 NA 4.1528666 1237 5 148620451 148620451 C T intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs45498700 0.14 0.14 0.127 0.128195 0.1809 0.0704 0.3343 0.0061 0.1524 0.17 0.08 0.33 0.01 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8561 NA NA NA NA NA 0.138 NA 4.1524333 1237 17 47243622 47243622 G T intronic B4GALNT2 NA NA NA intronic ENSG00000167080 NA NA NA Score=459;Name=lod=98 NA 17q21.32 NA NA NA NA rs16970025 0.26 0.26 0.255 0.26857 0.2773 0.1498 0.2839 0.329 0.2894 0.27 0.16 0.31 0.32 0.2817 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914885 NA NA 0.288721 0.333182 NA 0.268 NA 4.152279 1237 3 87100893 87100893 G A intergenic VGLL3,MIR4795 dist=60636;dist=174446 NA NA ncRNA_exonic ENSG00000241293 NA NA NA Score=737;Name=lod=1320 NA 3p12.1 NA NA NA NA rs2256481 0.72 0.72 0.696 0.703874 0.8479 0.6766 0.8329 0.4992 0.7689 0.86 0.67 0.82 0.5 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103305 NA NA NA NA NA 0.71 NA 4.1521 1237 13 22275394 22275394 A G exonic FGF9 NA synonymous SNV FGF9:NM_002010:exon3:c.A447G:p.S149S exonic ENSG00000102678 NA synonymous SNV ENSG00000102678:ENST00000382353:exon3:c.A447G:p.S149S Score=627;Name=lod=470 NA 13q12.11 NA NA NA NA rs9509841 0.83 0.83 0.813 0.832468 0.8449 0.9603 0.8847 0.6339 0.9192 0.85 0.96 0.85 0.64 0.8398 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.1552 NA NA 0.830116 0.664548 NA 0.848 NA 4.1518506 1237 11 43852491 43852491 T C intronic HSD17B12 NA NA NA ncRNA_exonic ENSG00000246250 NA NA NA NA NA 11p11.2 NA Name=CEBPB,YY1_(C-20),Pol2(b),STAT3 NA NA rs6485471 0.42 0.42 0.41 0.389577 0.3907 0.6806 0.3458 0.1967 0.3804 0.4 0.73 0.33 0.17 0.3964 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.417977 1.417977 NA 0.394419 0.238992 NA 0.254 NA 4.1518143 1237 19 51456005 51456005 T G UTR5 KLK5 NM_001077491:c.-92A>C,NM_012427:c.-92A>C NA NA ncRNA_UTR5 ENSG00000167754 NA NA NA NA NA 19q13.41 NA NA NA NA rs2659093 0.51 0.51 0.471 0.502796 0.3489 0.7183 0.4957 0.4834 0.4703 0.36 0.75 0.46 0.48 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07245 NA NA NA NA NA 0.493 NA 4.1511 1237 1 248263626 248263626 T A UTR3 OR2L13 NM_175911:c.*10T>A NA NA UTR3 ENSG00000196071 ENST00000366478:c.*10T>A,ENST00000358120:c.*10T>A NA NA NA NA 1q44 NA NA NA NA rs4146708 0.07 0.07 0.068 0.0571086 0.0656 0.0893 0.0187 0.0552 0.045 0.06 0.12 0.02 0.06 0.0636 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553074 NA NA 0.053152 0.049251 NA 0.065 NA 4.1509814 1237 15 25299259 25299259 T C upstream SNORD116-2 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs8038299 0.05 0.05 0.055 0.0714856 0.0159 NA 0.0331 0.2141 0.0368 0.02 NA 0.03 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689693 NA NA NA NA NA 0.029 NA 4.1507666 1237 15 25331940 25331940 C A upstream;downstream SNORD116-20;SNORD116-17,SNORD116-19 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs76349084 0.02 0.02 0.012 0.0231629 0.0159 NA 0.0101 0.0446 0.0348 0.02 NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.84823 NA NA NA NA NA NA NA 4.1507666 1237 1 110709719 110709719 T C exonic SLC6A17 NA synonymous SNV SLC6A17:NM_001010898:exon2:c.T168C:p.D56D exonic ENSG00000197106 NA synonymous SNV ENSG00000197106:ENST00000331565:exon2:c.T168C:p.D56D NA NA 1p13.3 NA NA NA NA rs7527375 0.37 0.37 0.403 0.392971 0.5249 0.2143 0.353 0.4652 0.3722 0.43 0.19 0.39 0.46 0.4656 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963628 NA 0.92 0.525465 0.512483 NA 0.188 NA 4.1507016 1237 19 53059235 53059235 T G UTR3 ZNF808 NM_001039886:c.*354T>G NA NA UTR3 ENSG00000198482 ENST00000487863:c.*354T>G,ENST00000359798:c.*354T>G NA NA NA NA 19q13.41 NA NA NA NA rs9676916 0.28 0.28 0.236 0.299321 0.1829 0.5188 0.3429 0.1876 0.3129 0.18 0.49 0.29 0.16 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822011 NA NA NA NA NA 0.181 NA 4.1504334 1237 15 50789163 50789163 A T intronic USP8 NA NA NA ncRNA_exonic ENSG00000259618 NA NA NA NA NA 15q21.2 NA NA NA NA rs10519278 0.12 0.12 0.12 0.133387 0.1829 0.002 0.255 0.0809 0.2025 0.17 NA 0.25 0.1 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632828 NA NA NA NA NA 0.159 NA 4.1504333 1237 12 93155535 93155535 G A exonic PLEKHG7 NA synonymous SNV PLEKHG7:NM_001004330:exon9:c.G708A:p.T236T exonic ENSG00000187510 NA synonymous SNV ENSG00000187510:ENST00000344636:exon9:c.G708A:p.T236T Score=567;Name=lod=269 NA 12q22 NA NA NA NA rs1504907 0.87 0.87 0.861 0.851038 0.8459 0.9494 0.8674 0.8169 0.7894 0.85 0.94 0.87 0.83 0.8394 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020372 NA NA 0.831006 0.803417 NA 0.746 NA 4.1503606 1237 1 211846876 211846876 A G exonic NEK2 NA synonymous SNV NEK2:NM_001204182:exon3:c.T504C:p.H168H,NEK2:NM_001204183:exon3:c.T504C:p.H168H,NEK2:NM_002497:exon3:c.T504C:p.H168H exonic ENSG00000117650 NA synonymous SNV ENSG00000117650:ENST00000366998:exon3:c.T504C:p.H168H,ENSG00000117650:ENST00000366999:exon3:c.T504C:p.H168H,ENSG00000117650:ENST00000540251:exon4:c.T375C:p.H125H NA NA 1q32.3 NA NA NA NA rs701929 0.59 0.59 0.543 0.603035 0.4732 0.7252 0.6671 0.5454 0.6431 0.47 0.78 0.6 0.52 0.5584 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133448 NA NA 0.484767 0.534044 NA 0.565 NA 4.1502996 1237 19 7083761 7083761 A G UTR3 ZNF557 NM_001044388:c.*6A>G,NM_001044387:c.*6A>G,NM_024341:c.*6A>G NA NA UTR3 ENSG00000130544 ENST00000252840:c.*6A>G,ENST00000414706:c.*6A>G,ENST00000439035:c.*6A>G NA NA NA NA 19p13.2 NA Name=ZNF274,SETDB1,KAP1 NA NA rs8110740 0.44 0.44 0.432 0.445687 0.3777 0.5218 0.438 0.5227 0.3384 0.38 0.48 0.38 0.51 0.4189 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.964293 NA NA 0.386587 0.506066 NA 0.377 NA 4.1501464 1237 17 16757437 16757437 C T intergenic KRT16P2,TNFRSF13B dist=21290;dist=84961 NA NA ncRNA_exonic ENSG00000229749 NA NA NA Score=497;Name=lod=140 NA 17p11.2 NA NA NA NA rs8079893 0.93 0.93 0.96 0.943091 0.8499 0.9782 0.8919 0.9955 0.9683 0.86 0.98 0.88 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196675 NA NA NA NA NA 0.935 NA 4.1501 1237 3 172538065 172538065 C T UTR3 ECT2 NM_018098:c.*38C>T,NM_001258315:c.*38C>T,NM_001258316:c.*38C>T NA NA UTR3 ENSG00000114346 ENST00000232458:c.*38C>T,ENST00000392692:c.*38C>T,ENST00000417960:c.*38C>T,ENST00000441497:c.*38C>T,ENST00000437296:c.*173C>T NA NA NA NA 3q26.31 NA NA NA NA rs76864072 0.05 0.05 0.048 0.0455272 0.0736 0.0407 0.062 0.0091 0.0593 0.08 0.04 0.07 0.03 0.0551 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.668653 NA NA 0.054611 0.018157 NA 0.036 NA 4.1500224 1237 15 41829230 41829230 A G exonic RPAP1 NA synonymous SNV RPAP1:NM_015540:exon2:c.T94C:p.L32L exonic ENSG00000103932 NA synonymous SNV ENSG00000103932:ENST00000304330:exon2:c.T94C:p.L32L,ENSG00000103932:ENST00000561603:exon2:c.T94C:p.L32L,ENSG00000103932:ENST00000562303:exon2:c.T94C:p.L32L,ENSG00000103932:ENST00000566863:exon2:c.T94C:p.L32L,ENSG00000103932:ENST00000567866:exon2:c.T94C:p.L32L NA NA 15q15.1 NA NA NA NA rs721772 0.41 0.41 0.406 0.391374 0.5199 0.4464 0.3862 0.1528 0.5286 0.52 0.48 0.39 0.16 0.4753 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600706 NA NA 0.521512 0.231502 NA 0.457 NA 4.1499546 1237 14 96730142 96730142 A G exonic BDKRB1 NA synonymous SNV BDKRB1:NM_000710:exon3:c.A123G:p.P41P exonic ENSG00000100739 NA synonymous SNV ENSG00000100739:ENST00000216629:exon3:c.A123G:p.P41P,ENSG00000100739:ENST00000553356:exon3:c.A123G:p.P41P NA NA 14q32.2 NA Name=HA-E2F1 NA NA rs2071084 0.84 0.84 0.86 0.834265 0.84 0.7798 0.8343 0.9289 0.7566 0.83 0.77 0.83 0.94 0.83 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408931 NA NA 0.846744 0.911711 NA 0.819 NA 4.1499226 1237 15 25334180 25334180 T C upstream;downstream SNORD116-22;SNORD116-21 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs113064344 0.02 0.02 0.014 0.0289537 0.0169 0.001 0.0101 0.0651 0.0348 0.02 NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956021 NA NA NA NA NA 0.007 NA 4.1497666 1237 7 100471044 100471044 C T UTR3 TRIP6 NM_003302:c.*119C>T NA NA UTR3 ENSG00000087077 ENST00000200457:c.*119C>T NA NA NA NA 7q22.1 NA NA NA NA rs6706 0.11 0.11 0.088 0.0884585 0.1839 0.0308 0.1023 0.0408 0.1043 0.2 0.03 0.12 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.106561 NA NA NA NA NA 0.109 NA 4.1494334 1237 17 7360110 7360110 T C UTR3 CHRNB1 NM_000747:c.*68T>C NA NA UTR3 ENSG00000170175 ENST00000306071:c.*68T>C,ENST00000536404:c.*68T>C,ENST00000576360:c.*68T>C,ENST00000575379:c.*68T>C NA NA NA NA 17p13.1 NA NA NA NA rs2302764 0.3 0.3 0.265 0.305711 0.1839 0.6538 0.3501 0.0953 0.3252 0.18 0.63 0.28 0.11 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60116 NA NA NA NA NA 0.217 NA 4.1494334 1237 16 85712105 85712105 C T intronic GINS2 NA NA NA intronic ENSG00000131153 NA NA NA NA NA 16q24.1 NA Name=c-Myc,Pol2 NA NA rs3815795 0.21 0.21 0.212 0.183307 0.3012 0.1885 0.2161 0.0968 0.1503 0.29 0.19 0.23 0.11 0.2474 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317964 NA NA 0.302209 0.116015 ID=COSN165285;OCCURENCE=1(breast) 0.21 NA 4.149191 1237 11 65495696 65495696 T C intergenic RNASEH2C,AP5B1 dist=7287;dist=45673 NA NA downstream ENSG00000214659 NA NA NA Score=633;Name=lod=496 NA 11q13.1 NA NA NA NA rs78412025 0.25 0.25 0.246 0.263578 0.3509 0.2321 0.2133 0.1861 0.3466 0.35 0.2 0.24 0.18 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275132 NA NA NA NA NA 0.246 NA 4.1491 1237 12 52681282 52681282 T C intronic KRT81 NA NA NA intronic ENSG00000170442,ENSG00000205426 NA NA NA NA NA 12q13.13 NA Name=CTCF,Pol2 NA NA rs4761785 0.8 0.8 0.824 0.836661 0.8509 0.6954 0.7406 0.9894 0.8292 0.85 0.67 0.7 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181217 NA NA NA NA NA 0.964 NA 4.1491 1237 12 52681714 52681714 T C intronic KRT81 NA NA NA intronic ENSG00000170442,ENSG00000205426 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs6580872 0.92 0.92 0.935 0.936302 0.8509 0.996 0.9207 0.9902 0.9008 0.85 1 0.88 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556657 NA NA NA NA NA 0.978 NA 4.1491 1237 18 61324033 61324033 T C intronic SERPINB3 NA NA NA intronic ENSG00000057149 NA NA NA NA NA 18q21.33 NA Name=Pol2 NA NA rs3786333 0.39 0.39 0.375 0.399161 0.2744 0.6171 0.3415 0.3714 0.3814 0.26 0.6 0.33 0.38 0.3197 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293044 NA NA 0.257326 0.360418 NA 0.362 NA 4.148574 1237 5 134781992 134781992 G A UTR3 C5orf20 NM_130848:c.*72C>T NA NA UTR3 ENSG00000251380,ENSG00000255833 ENST00000503143:c.*72C>T;ENST00000537858:c.*3152C>T NA NA NA NA 5q31.1 NA NA NA NA rs17168355 0.16 0.16 0.157 0.155751 0.1849 0.1577 0.1066 0.1823 0.1227 0.17 0.14 0.09 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230425 NA NA NA NA ID=COSN216960;OCCURENCE=2(liver) 0.145 NA 4.1484334 1237 6 74202160 74202160 A C intronic MTO1 NA NA NA ncRNA_intronic ENSG00000223821 NA NA NA NA NA 6q13 NA NA NA NA rs73452507 0.19 0.19 0.185 0.195487 0.1849 0.2123 0.1686 0.2254 0.1677 0.19 0.2 0.14 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143895 NA NA NA NA NA 0.152 NA 4.1484333 1237 19 12491654 12491654 C T intergenic ZNF442,ZNF799 dist=15179;dist=9174 NA NA ncRNA_exonic ENSG00000248406 NA NA NA Score=355;Name=lod=37 NA 19p13.2 NA NA NA NA rs57371898 0.33 0.33 0.295 0.326078 0.4374 0.0754 0.3473 0.4259 0.32 0.45 0.07 0.4 0.39 0.4144 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647993 NA NA NA NA NA 0.377 NA 4.1482 1237 19 43835611 43835611 A G intergenic PSG9,PRG1 dist=61929;dist=17597 NA NA upstream ENSG00000231412 NA NA NA NA NA 19q13.31 NA Name=ZNF263 NA NA rs35902331 0.28 0.28 0.296 0.285543 0.3519 0.0774 0.1931 0.4304 0.3016 0.35 0.1 0.2 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783331 NA NA NA NA NA 0.268 NA 4.1481 1237 22 36933668 36933668 G A intergenic EIF3D,CACNG2 dist=8391;dist=23248 NA NA upstream ENSG00000188078 NA NA NA Score=620;Name=lod=440 NA 22q12.3 NA NA NA NA rs2142824 0.34 0.34 0.349 0.349441 0.3519 0.1905 0.3718 0.4433 0.3681 0.35 0.2 0.35 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073601 NA NA NA NA NA 0.326 NA 4.1481 1237 16 2373357 2373357 G A intronic ABCA3 NA NA NA UTR3 ENSG00000167972 ENST00000567910:c.*150C>T NA NA NA NA 16p13.3 NA NA NA NA rs184260155 0.01 0.01 NA 0.0061901 0.0189 NA 0.013 NA 0.0031 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.481828 NA NA NA NA NA NA NA 4.1477667 1237 8 72966002 72966002 G A exonic TRPA1 NA synonymous SNV TRPA1:NM_007332:exon13:c.C1630T:p.L544L exonic ENSG00000104321 NA synonymous SNV ENSG00000104321:ENST00000523582:exon10:c.C1186T:p.L396L,ENSG00000104321:ENST00000262209:exon13:c.C1630T:p.L544L NA NA 8q13.3 NA NA NA NA rs3735943 0.56 0.56 0.511 0.580471 0.4791 0.6905 0.6671 0.5091 0.6063 0.49 0.7 0.62 0.47 0.5476 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259786 NA NA 0.492326 0.510213 NA 0.558 NA 4.1476406 1237 7 148487395 148487395 T C intronic CUL1 NA NA NA intronic ENSG00000055130 NA NA NA NA NA 7q36.1 NA Name=GATA-1 Name=4 NA rs2007404 0.68 0.68 0.663 0.671725 0.6054 0.7014 0.7392 0.7163 0.6012 0.61 0.68 0.68 0.76 0.6313 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169473 NA NA 0.615814 0.692465 NA 0.572 NA 4.147486 1237 5 134782013 134782013 G A UTR3 C5orf20 NM_130848:c.*51C>T NA NA UTR3 ENSG00000251380,ENSG00000255833 ENST00000503143:c.*51C>T;ENST00000537858:c.*3131C>T NA NA NA NA 5q31.1 NA NA NA NA rs17168357 0.16 0.16 0.16 0.156749 0.1859 0.1577 0.1066 0.1861 0.1217 0.17 0.14 0.09 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888735 NA NA NA NA NA 0.145 NA 4.1474334 1237 1 109734541 109734541 C T intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA Name=ELF1_(SC-631),STAT1 NA NA rs645128 0.87 0.87 0.869 0.872604 0.8529 0.998 0.8804 0.711 0.9765 0.87 1 0.87 0.72 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505081 NA NA NA NA NA 0.899 NA 4.1471 1237 18 55338656 55338656 G A intronic ATP8B1 NA NA NA ncRNA_intronic ENSG00000267040,ENSG00000267787 NA NA NA NA NA 18q21.31 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs317838 0.51 0.51 0.463 0.476438 0.3996 0.6627 0.5605 0.416 0.3855 0.39 0.67 0.56 0.46 0.4226 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344628 NA NA 0.364038 0.393052 NA 0.471 NA 4.1470953 1237 13 21620085 21620085 T C exonic LATS2 NA synonymous SNV LATS2:NM_014572:exon2:c.A81G:p.K27K exonic ENSG00000150457 NA synonymous SNV ENSG00000150457:ENST00000382592:exon2:c.A81G:p.K27K,ENSG00000150457:ENST00000542899:exon2:c.A81G:p.K27K Score=461;Name=lod=100 NA 13q12.11 NA NA NA NA rs7317471 0.81 0.81 0.778 0.807508 0.828 0.8839 0.8501 0.6286 0.9192 0.82 0.9 0.85 0.66 0.8496 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291053 NA NA 0.842558 0.659555 NA 0.812 NA 4.1465086 1237 10 95347475 95347475 C T UTR3 FFAR4 NM_181745:c.*109C>T,NM_001195755:c.*109C>T NA NA UTR3 ENSG00000186188 ENST00000371483:c.*109C>T,ENST00000371481:c.*109C>T NA NA NA NA 10q23.33 NA NA NA NA rs17108973 0.14 0.14 0.141 0.176518 0.1869 0.0972 0.147 0.1172 0.3487 0.18 0.1 0.16 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120333 NA NA NA NA NA 0.21 NA 4.1464334 1237 X 299501 299501 C T intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA Name=ZNF263 NA NA rs2738374 0.35 0.35 0.34658 NA NA NA NA NA NA 0.41 0.41 0.37 0.16 0.4137 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148086 NA NA 0.440243 0.192273 NA 0.109 NA 4.146057 1237 16 1608177 1608177 A G intronic IFT140 NA NA NA intronic ENSG00000187535 NA NA NA NA NA 16p13.3 Score=797;Name=V$OCT1_01 NA NA NA rs2235641 0.4 0.4 0.412 0.421126 0.2525 0.4762 0.379 0.5673 0.3701 0.26 0.45 0.38 0.55 0.3354 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512616 NA NA 0.266279 0.509095 NA 0.348 NA 4.145821 1237 9 101911656 101911656 A G UTR3 TGFBR1 NM_001130916:c.*69A>G,NM_004612:c.*69A>G NA NA UTR3 ENSG00000106799 ENST00000374994:c.*69A>G,ENST00000374990:c.*69A>G,ENST00000552516:c.*69A>G,ENST00000549766:c.*316A>G NA NA NA NA 9q22.33 NA NA NA NA rs868 0.14 0.14 0.135 0.117412 0.1879 0.0129 0.1297 0.1467 0.1043 0.2 0.01 0.16 0.18 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.970045 NA NA NA NA NA 0.167 NA 4.1454334 1238 19 39229316 39229316 A G intronic CAPN12 NA NA NA ncRNA_exonic ENSG00000267892 NA NA NA NA NA 19q13.2 NA NA NA NA rs12983550 0.06 0.06 0.037 0.0702875 0.0616 0.0476 0.0821 0.056 0.1135 0.06 0.06 0.06 0.05 0.064 0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007394 NA NA 0.06314 0.048343 NA 0.087 NA 4.1445933 1238 12 96367900 96367900 G T UTR3 HAL NM_002108:c.*110C>A,NM_001258334:c.*238C>A,NM_001258333:c.*110C>A NA NA UTR3 ENSG00000084110 ENST00000261208:c.*110C>A,ENST00000541929:c.*110C>A,ENST00000544080:c.*1513C>A,ENST00000538703:c.*238C>A,ENST00000546999:c.*1496C>A NA NA NA NA 12q23.1 NA NA NA NA rs2230885 0.18 0.18 0.189 0.177117 0.1889 0.1002 0.1167 0.289 0.136 0.19 0.1 0.13 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258472 NA NA NA NA NA 0.268 NA 4.1444334 1238 7 151135457 151135457 T C intronic CRYGN NA NA NA ncRNA_intronic ENSG00000241456 NA NA NA NA NA 7q36.1 NA NA NA NA rs2074999 0.17 0.17 0.154 0.150559 0.1889 0.1508 0.1744 0.1619 0.0787 0.19 0.15 0.18 0.16 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919889 NA NA NA NA NA 0.181 NA 4.1444333 1238 2 105388360 105388360 T A intergenic LOC284998,LOC100506421 dist=14183;dist=33523 NA NA downstream ENSG00000213301 NA NA NA Score=505;Name=lod=151 NA 2q12.1 NA NA NA NA rs13034712 0.24 0.24 0.214 0.250599 0.3559 0.0863 0.3213 0.2413 0.274 0.33 0.07 0.34 0.21 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314341 NA NA NA NA NA 0.319 NA 4.1441 1238 7 56356826 56356826 A C intergenic NUPR1L,LOC650226 dist=172736;dist=134571 NA NA ncRNA_exonic ENSG00000223559 NA NA NA Score=797;Name=lod=2309 NA 7p11.2 NA NA NA NA rs3813512 0.82 0.82 0.795 0.855232 0.8559 0.6062 0.902 0.9622 0.9335 0.85 0.61 0.89 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064622 NA NA NA NA NA 0.833 NA 4.1441 1238 14 21630781 21630781 C T intergenic OR5AU1,LINC00641 dist=6597;dist=37457 NA NA ncRNA_exonic ENSG00000259102 NA NA NA Score=795;Name=lod=2266 NA 14q11.2 NA NA NA NA rs11627483 0.77 0.77 0.776 0.785942 0.8559 0.5 0.8631 0.8457 0.8732 0.86 0.52 0.87 0.86 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221823 NA NA NA NA NA 0.783 NA 4.1441 1238 11 5602790 5602790 A G exonic OR52B6 NA synonymous SNV OR52B6:NM_001005162:exon1:c.A684G:p.L228L exonic ENSG00000187747 NA synonymous SNV ENSG00000187747:ENST00000345043:exon1:c.A684G:p.L228L NA NA 11p15.4 NA NA NA NA rs2163946 0.69 0.69 0.694 0.716853 0.4761 0.9802 0.67 0.7413 0.6933 0.47 0.97 0.63 0.72 0.5741 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561382 NA NA 0.472682 0.708724 NA 0.623 NA 4.1437846 1238 11 62543180 62543180 A G intronic TAF6L NA NA NA UTR5 ENSG00000162227 ENST00000526261:c.-76A>G NA NA NA NA 11q12.3 NA NA NA NA rs11231210 0.13 0.13 0.131 0.145567 0.0229 0.1538 0.0476 0.3442 0.0644 0.03 0.14 0.05 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627435 NA NA NA NA NA 0.094 NA 4.1437667 1238 X 1752017 1752017 G T intronic ASMT NA NA NA ncRNA_intronic ENSG00000249358 NA NA NA NA NA Xp22.33 NA NA NA NA rs4521942 0.08 0.08 0.06518 NA NA NA NA NA NA 0.09 0.04 0.07 0.1 0.101 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802276 NA NA 0.088571 0.137994 NA 0.138 NA 4.1437623 1238 19 37101542 37101542 C T intronic ZNF382 NA NA NA UTR5 ENSG00000161298 ENST00000590785:c.-18C>T NA NA NA NA 19q13.12 NA NA NA NA rs185148972 0.01 0.01 NA 0.00379393 0.007 NA 0.0173 NA NA 0.01 NA 0.02 NA 0.0064 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.316647 NA NA 0.009767 0.002951 NA 0.007 NA 4.1434997 1238 3 41900951 41900951 C A intronic ULK4 NA NA NA ncRNA_exonic ENSG00000223513 NA NA NA NA NA 3p22.1 NA NA NA NA rs2625667 0.3 0.3 0.308 0.315296 0.1899 0.1468 0.183 0.7088 0.18 0.2 0.15 0.18 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979728 NA NA NA NA NA 0.355 NA 4.1434333 1238 17 1494567 1494567 G A exonic SLC43A2 NA synonymous SNV SLC43A2:NM_152346:exon8:c.C927T:p.A309A exonic ENSG00000167703 NA synonymous SNV ENSG00000167703:ENST00000412517:exon4:c.C516T:p.A172A,ENSG00000167703:ENST00000301335:exon8:c.C927T:p.A309A,ENSG00000167703:ENST00000382147:exon8:c.C927T:p.A309A,ENSG00000167703:ENST00000571650:exon8:c.C927T:p.A309A NA NA 17p13.3 NA NA NA NA rs12953268 0.31 0.31 0.304 0.279353 0.5388 0.1508 0.3127 0.0832 0.3865 0.54 0.15 0.36 0.11 0.4363 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016251 NA NA 0.548256 0.164775 ID=COSM436059;OCCURENCE=1(breast) 0.304 NA 4.1433106 1238 19 12491639 12491639 A G intergenic ZNF442,ZNF799 dist=15164;dist=9189 NA NA ncRNA_exonic ENSG00000248406 NA NA NA Score=355;Name=lod=37 NA 19p13.2 NA NA NA NA rs59301182 0.3 0.3 0.289 0.333067 0.4384 0.0754 0.3588 0.4455 0.32 0.42 0.06 0.38 0.34 0.4183 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361519 NA NA NA NA NA 0.384 NA 4.1433 1238 11 5602928 5602928 G C exonic OR52B6 NA synonymous SNV OR52B6:NM_001005162:exon1:c.G822C:p.A274A exonic ENSG00000187747 NA synonymous SNV ENSG00000187747:ENST00000345043:exon1:c.G822C:p.A274A NA NA 11p15.4 NA NA NA NA rs10838375 0.69 0.69 0.706 0.715855 0.4761 0.9792 0.67 0.7383 0.6933 0.47 0.97 0.63 0.72 0.5738 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.346092 NA NA 0.473551 0.706511 NA 0.623 NA 4.1432156 1238 7 32908945 32908945 T C UTR3 KBTBD2 NM_015483:c.*12A>G NA NA UTR3 ENSG00000170852 ENST00000304056:c.*12A>G NA NA NA NA 7p14.3 NA NA NA NA rs62467365 0.07 0.07 0.076 0.0644968 0.0676 0.1518 0.0288 0.0023 0.0808 0.07 0.13 0.04 0.002 0.0628 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820973 NA NA 0.059767 0.011802 NA 0.043 NA 4.1431664 1238 6 100895344 100895344 C T intronic SIM1 NA NA NA intronic ENSG00000112246 NA NA NA NA NA 6q16.3 NA NA Name=33 NA rs397662 0.92 0.92 0.921 0.937899 0.8569 0.9792 0.9409 0.966 0.9387 0.85 0.98 0.91 0.96 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480998 NA NA NA NA NA 0.906 NA 4.1431 1238 13 75814070 75814070 C G ncRNA_exonic CTAGE11P NA NA NA ncRNA_exonic ENSG00000214249 NA NA NA NA NA 13q22.2 NA NA NA NA rs61960513 0.16 0.16 0.13 0.125 0.3032 0.0516 0.1945 0.031 0.0951 0.29 0.06 0.21 0.04 0.2204 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28604 NA NA NA NA NA 0.109 NA 4.1430666 1238 19 6466482 6466482 A G exonic CRB3 NA synonymous SNV CRB3:NM_139161:exon4:c.A162G:p.P54P,CRB3:NM_174881:exon4:c.A162G:p.P54P exonic ENSG00000130545 NA synonymous SNV ENSG00000130545:ENST00000308243:exon3:c.A162G:p.P54P,ENSG00000130545:ENST00000356762:exon4:c.A162G:p.P54P,ENSG00000130545:ENST00000598494:exon4:c.A162G:p.P54P,ENSG00000130545:ENST00000600229:exon4:c.A162G:p.P54P NA NA 19p13.3 NA NA NA NA rs348362 0.42 0.42 0.407 0.423323 0.5189 0.1875 0.3127 0.6233 0.3763 0.49 0.16 0.36 0.66 0.4545 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.088518 NA NA 0.550349 0.573763 NA 0.5 NA 4.1429176 1238 12 52660812 52660812 G A intergenic KRT7,KRT81 dist=18103;dist=18885 NA NA intronic ENSG00000170442 NA NA NA Score=549;Name=lod=227 NA 12q13.13 NA NA NA NA rs2852474 0.18 0.18 0.183 0.195487 0.2704 0.0962 0.1787 0.1528 0.2904 0.26 0.09 0.19 0.14 0.2537 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370267 NA NA NA NA ID=COSM147518;OCCURENCE=1(stomach) 0.181 NA 4.1425667 1238 1 26589698 26589698 T A intronic CEP85 NA NA NA ncRNA_exonic ENSG00000270733 NA NA NA NA NA 1p36.11 NA NA NA NA rs12142535 0.13 0.13 0.125 0.132188 0.1909 0.0228 0.1066 0.2027 0.1074 0.21 0.02 0.11 0.16 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639679 NA NA NA NA NA 0.094 NA 4.1424333 1238 1 207748793 207748793 A G intronic CR1 NA NA NA ncRNA_intronic ENSG00000236911 NA NA NA NA NA 1q32.2 NA NA NA NA rs650877 0.34 0.34 0.336 0.447085 0.1909 0.3274 0.3199 0.7648 0.4949 0.18 0.23 0.34 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819267 NA NA NA NA NA 0.355 NA 4.1424333 1238 5 54320700 54320700 C T intronic GZMK NA NA NA ncRNA_intronic ENSG00000240535 NA NA NA NA NA 5q11.2 NA NA NA NA rs9292078 0.35 0.35 0.336 0.35643 0.1909 0.4653 0.389 0.5242 0.1646 0.18 0.45 0.35 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253242 NA NA NA NA NA 0.319 NA 4.1424333 1238 7 29252692 29252692 T G intronic CHN2 NA NA NA ncRNA_exonic ENSG00000237065 NA NA NA NA NA 7p14.3 NA NA NA NA rs112444579 0.1 0.1 0.057 0.0780751 0.1909 0.0188 0.1542 0.0348 0.0276 0.2 0.01 0.15 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005883 NA NA NA NA NA 0.043 NA 4.1424333 1238 7 29252724 29252724 A T intronic CHN2 NA NA NA ncRNA_exonic ENSG00000237065 NA NA NA NA NA 7p14.3 NA NA NA NA rs113501072 0.1 0.1 0.06 0.0780751 0.1909 0.0188 0.1542 0.0348 0.0276 0.2 0.01 0.16 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020428 NA NA NA NA NA 0.036 NA 4.1424333 1238 4 159076826 159076826 C T exonic FAM198B NA synonymous SNV FAM198B:NM_001128424:exon3:c.G1062A:p.S354S,FAM198B:NM_016613:exon3:c.G1062A:p.S354S,FAM198B:NM_001031700:exon4:c.G1086A:p.S362S exonic ENSG00000164125 NA synonymous SNV ENSG00000164125:ENST00000590648:exon2:c.G180A:p.S60S,ENSG00000164125:ENST00000296530:exon3:c.G1062A:p.S354S,ENSG00000164125:ENST00000585682:exon3:c.G1062A:p.S354S,ENSG00000164125:ENST00000393807:exon4:c.G1086A:p.S362S Score=563;Name=lod=259 NA 4q32.1 NA NA NA NA rs6830702 0.79 0.79 0.79 0.772564 0.8489 0.9484 0.8602 0.5061 0.8108 0.84 0.95 0.83 0.48 0.8316 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.2052 NA NA 0.844033 0.562642 NA 0.819 NA 4.1421336 1238 13 53227301 53227301 C T intronic SUGT1 NA NA NA intronic ENSG00000165416 NA NA NA NA NA 13q14.3 NA NA Name=9 NA rs9536219 0.32 0.32 0.274 0.282348 0.4533 0.2044 0.4625 0.1573 0.228 0.44 0.2 0.43 0.18 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163594 NA NA 0.404777 0.172688 ID=COSN164506;OCCURENCE=1(breast) 0.167 NA 4.141923 1238 17 25746737 25746737 C A ncRNA_intronic TBC1D3P5 NA NA NA ncRNA_intronic ENSG00000266433 NA NA NA NA NA 17q11.1 NA NA NA NA rs1973152 0.54 0.54 0.532 0.504393 0.5249 0.6696 0.4395 0.413 0.4826 0.55 0.66 0.45 0.45 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066425 NA NA NA NA ID=COSN165369;OCCURENCE=1(breast) 0.601 NA 4.1417666 1238 2 228788722 228788722 T C UTR3 DAW1 NM_178821:c.*38T>C NA NA UTR3 ENSG00000123977 ENST00000373666:c.*392T>C,ENST00000309931:c.*38T>C NA NA NA NA 2q36.3 NA NA NA NA rs16824231 0.05 0.05 0.043 0.0519169 0.0676 0.0784 0.0375 0.0151 0.0685 0.07 0.07 0.04 0.02 0.0591 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20834 NA NA 0.064884 0.017703 NA 0.029 NA 4.1417494 1238 7 29252163 29252163 A G intronic CHN2 NA NA NA ncRNA_exonic ENSG00000237065 NA NA NA NA NA 7p14.3 NA NA NA NA rs13311144 0.1 0.1 0.087 0.0788738 0.1918 0.0188 0.1542 0.0371 0.0276 0.2 0.01 0.16 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409671 NA NA NA NA NA 0.051 NA 4.1415333 1238 19 35434512 35434512 T C exonic ZNF30 NA synonymous SNV ZNF30:NM_001099437:exon5:c.T645C:p.S215S,ZNF30:NM_001099438:exon5:c.T645C:p.S215S,ZNF30:NM_194325:exon5:c.T642C:p.S214S exonic ENSG00000168661 NA synonymous SNV ENSG00000168661:ENST00000303586:exon5:c.T645C:p.S215S,ENSG00000168661:ENST00000439785:exon5:c.T645C:p.S215S,ENSG00000168661:ENST00000601142:exon5:c.T642C:p.S214S,ENSG00000168661:ENST00000426813:exon6:c.T399C:p.S133S NA NA 19q13.11 NA NA NA NA rs2651109 0.63 0.63 0.651 0.653355 0.5129 0.6052 0.4049 0.9402 0.636 0.51 0.63 0.47 0.94 0.5348 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256739 NA NA 0.477767 0.856259 NA 0.645 NA 4.1411996 1238 7 95001555 95001555 C T exonic PON3 NA synonymous SNV PON3:NM_000940:exon4:c.G297A:p.A99A exonic ENSG00000105852 NA synonymous SNV ENSG00000105852:ENST00000265627:exon4:c.G297A:p.A99A,ENSG00000105852:ENST00000427422:exon4:c.G297A:p.A99A,ENSG00000105852:ENST00000451904:exon4:c.G297A:p.A99A NA NA 7q21.3 NA NA NA NA rs1053275 0.63 0.63 0.636 0.660543 0.501 0.7788 0.6772 0.6422 0.7157 0.49 0.78 0.64 0.67 0.5675 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747296 NA NA 0.457326 0.567635 NA 0.587 NA 4.1408406 1238 22 32754036 32754036 G A UTR5 RFPL3 NM_001098535:c.-23G>A NA NA UTR5 ENSG00000128276 ENST00000249007:c.-23G>A NA NA NA NA 22q12.3 NA NA NA NA rs11089557 0.16 0.16 0.112 0.144369 0.0408 0.4544 0.0908 0.0303 0.1237 0.04 0.45 0.1 0.02 0.1014 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579287 NA NA 0.050559 0.037037 ID=COSN166739;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.08 NA 4.1405744 1238 15 63363402 63363402 G A UTR3 TPM1 NM_001018006:c.*31G>A,NM_001018004:c.*31G>A,NM_001018020:c.*31G>A,NM_001018007:c.*31G>A NA NA ncRNA_UTR3 ENSG00000140416 NA NA NA NA NA 15q22.2 NA NA NA NA rs11558748 NA NA NA 0.372005 0.3519 0.4841 0.3934 0.2776 0.3896 NA NA NA NA 0.0078 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.655663 NA NA NA NA NA 0.014 NA 4.1403 1238 12 51686204 51686204 T C intronic BIN2 NA NA NA intronic ENSG00000110934 NA NA NA NA NA 12q13.13 NA Name=CTCF,CTCF_(C-20) NA NA rs7306505 0.79 0.79 0.773 0.780751 0.8598 0.8433 0.8617 0.5635 0.8712 0.85 0.84 0.83 0.6 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397363 NA NA NA NA NA 0.812 NA 4.1402 1238 20 50726895 50726895 G T intronic ZFP64 NA NA NA ncRNA_exonic ENSG00000233347 NA NA NA NA NA 20q13.2 NA NA NA NA rs7273444 0.13 0.13 0.118 0.112021 0.1938 0.0119 0.1239 0.1717 0.0419 0.2 0.01 0.14 0.15 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474301 NA NA NA NA NA 0.094 NA 4.1395333 1238 17 902869 902869 A G intronic TIMM22 NA NA NA intronic ENSG00000177370 NA NA NA NA NA 17p13.3 NA Name=CTCF NA NA rs12941159 0.15 0.15 0.126 0.103435 0.3052 0.002 0.1787 0.0189 0.0613 0.3 0.0017 0.21 0.04 0.2277 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.189836 2.189836 NA 0.328023 0.064911 NA 0.217 NA 4.139077 1238 14 106926388 106926388 T C intergenic LINC00226,LINC00221 dist=181422;dist=12067 NA NA exonic ENSG00000232216 NA nonsynonymous SNV ENSG00000232216:ENST00000434710:exon2:c.A154G:p.T52A NA NA 14q32.33 NA NA NA NA rs2467910 0.36 0.36 0.329 NA NA NA NA NA NA 0.31 0.38 0.3 0.46 0.3689 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.839343 NA 0.66 0.325691 0.434985 NA 0.326 NA 4.1387424 1238 11 119692663 119692663 T C intergenic PVRL1,TRIM29 dist=93228;dist=289331 NA NA ncRNA_exonic ENSG00000254406 NA NA NA Score=702;Name=lod=950 NA 11q23.3 NA NA NA NA rs542903 0.81 0.81 0.789 0.772764 0.8618 0.7937 0.8934 0.6672 0.7168 0.86 0.83 0.86 0.67 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.064372 NA NA NA NA NA 0.804 NA 4.1382 1238 18 8413996 8413996 A G intergenic PTPRM,RAB12 dist=7137;dist=195447 NA NA ncRNA_exonic ENSG00000266613 NA NA NA Score=813;Name=lod=2697 NA 18p11.23 NA NA NA NA rs647241 0.8 0.8 0.804 0.797724 0.8618 0.6458 0.7622 0.8578 0.8323 0.87 0.69 0.8 0.85 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303256 NA NA NA NA NA 0.848 NA 4.1382 1238 7 72334630 72334630 C G ncRNA_exonic SPDYE7P NA NA NA ncRNA_intronic ENSG00000179994 NA NA NA NA NA 7q11.23 NA NA NA NA rs3873463 0.3 0.3 0.189 0.459065 0.5288 0.4653 0.4971 0.2799 0.5961 0.34 0.34 0.4 0.13 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54452 NA NA NA NA NA NA NA 4.1378666 1238 6 169629861 169629861 G C intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs9505891 0.31 0.31 0.304 0.313099 0.1958 0.37 0.3228 0.4213 0.2219 0.2 0.36 0.28 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3536 NA NA NA NA NA 0.232 NA 4.1375333 1238 15 75981507 75981507 A G exonic CSPG4 NA synonymous SNV CSPG4:NM_001897:exon3:c.T1899C:p.G633G exonic ENSG00000173546 NA synonymous SNV ENSG00000173546:ENST00000308508:exon3:c.T1899C:p.G633G NA NA 15q24.2 NA NA NA NA rs12900539 0.35 0.35 0.286 0.373403 0.5179 0.1865 0.4986 0.2716 0.4663 0.51 0.14 0.48 0.27 0.4758 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.324733 NA NA 0.535864 0.294399 NA 0.377 NA 4.1371026 1238 7 98460824 98460824 C A exonic TMEM130 NA synonymous SNV TMEM130:NM_001134450:exon2:c.G285T:p.V95V,TMEM130:NM_152913:exon2:c.G285T:p.V95V exonic ENSG00000166448 NA synonymous SNV ENSG00000166448:ENST00000339375:exon2:c.G285T:p.V95V,ENSG00000166448:ENST00000416379:exon2:c.G285T:p.V95V,ENSG00000166448:ENST00000445790:exon2:c.G33T:p.V11V,ENSG00000166448:ENST00000450876:exon2:c.G33T:p.V11V,ENSG00000166448:ENST00000546258:exon2:c.G228T:p.V76V NA NA 7q22.1 Score=889;Name=V$MYCMAX_02 NA NA NA rs10238224 0.7 0.7 0.662 0.686502 0.8519 0.877 0.7608 0.2171 0.9018 0.85 0.88 0.73 0.23 0.813 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.390473 NA NA 0.865 0.331366 NA 0.667 NA 4.1367666 1238 20 52561372 52561372 A G UTR3 BCAS1 NM_003657:c.*89T>C NA NA UTR3 ENSG00000064787 ENST00000395961:c.*89T>C,ENST00000371435:c.*89T>C,ENST00000434986:c.*89T>C,ENST00000422805:c.*89T>C NA NA NA NA 20q13.2 NA NA NA NA rs2072241 0.24 0.24 0.232 0.234625 0.1968 0.37 0.2133 0.1672 0.2403 0.2 0.37 0.2 0.16 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472423 NA NA NA NA NA 0.225 NA 4.1365334 1238 22 42195410 42195410 T C UTR3 MEI1 NM_152513:c.*107T>C NA NA UTR3 ENSG00000167077 ENST00000401548:c.*107T>C,ENST00000300398:c.*107T>C,ENST00000400107:c.*107T>C,ENST00000403492:c.*107T>C,ENST00000423900:c.*107T>C NA NA NA NA 22q13.2 NA NA NA NA rs139561 0.16 0.16 0.118 0.159145 0.1968 0.0635 0.415 0.0204 0.2249 0.19 0.06 0.42 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.411357 2.411357 NA NA NA ID=COSN166765;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.138 NA 4.1365334 1238 15 91178278 91178278 C T intronic CRTC3 NA NA NA ncRNA_intronic ENSG00000259736 NA NA NA NA NA 15q26.1 NA NA NA NA rs7163000 0.27 0.27 0.212 0.289537 0.1968 0.2579 0.1441 0.5507 0.1677 0.2 0.21 0.17 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788719 NA NA NA NA NA 0.196 NA 4.1365333 1238 15 66794037 66794037 A C intronic RPL4 NA NA NA intronic ENSG00000174444 NA NA NA NA NA 15q22.31 NA NA Name=6 NA rs10851759 0.89 0.89 0.893 0.914337 0.8638 0.9335 0.8718 0.9486 0.9305 0.86 0.92 0.86 0.94 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111091 NA NA NA NA NA 0.833 NA 4.1362 1238 20 16493580 16493580 A G intronic KIF16B NA NA NA intronic ENSG00000089177 NA NA NA NA NA 20p12.1 NA NA Name=2 NA rs6135776 0.25 0.25 0.239 0.241214 0.2843 0.38 0.2839 0.0582 0.271 0.28 0.36 0.28 0.05 0.2732 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26379 NA NA 0.306628 0.104176 NA 0.188 NA 4.135872 1238 19 4945914 4945914 A C exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA Score=457;Name=lod=96 NA 19p13.3 NA NA NA NA rs2250982 0.59 0.59 0.46 0.660543 0.6143 0.6806 0.5836 0.6899 0.7025 0.57 0.61 0.56 0.63 0.5734 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333461 NA NA 0.50995 0.57284 NA 0.543 NA 4.1356833 1238 3 178960607 178960607 A G UTR3 KCNMB3 NM_171830:c.*85T>C,NM_171829:c.*85T>C,NM_014407:c.*85T>C,NM_171828:c.*85T>C NA NA UTR3 ENSG00000171121 ENST00000392686:c.*85T>C,ENST00000392685:c.*85T>C,ENST00000349697:c.*85T>C,ENST00000314235:c.*85T>C,ENST00000485523:c.*85T>C NA NA NA NA 3q26.32 NA NA NA NA rs1059691 0.22 0.22 0.214 0.278754 0.1978 0.1081 0.2594 0.4939 0.2607 0.18 0.08 0.25 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071057 NA NA NA NA NA 0.348 NA 4.1355334 1238 3 182735211 182735211 T G intronic MCCC1 NA NA NA ncRNA_exonic ENSG00000243368 NA NA NA NA NA 3q27.1 NA NA NA NA rs2292056 0.32 0.32 0.29 0.303115 0.1978 0.5694 0.2997 0.1732 0.3149 0.22 0.59 0.35 0.16 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337557 NA NA NA NA NA 0.391 NA 4.1355333 1238 16 4776805 4776805 G A intronic ANKS3 NA NA NA UTR5 ENSG00000168096 ENST00000592698:c.-12663C>T NA NA NA NA 16p13.3 NA NA NA NA rs12931781 0.0046 0.0046 0.004 0.00259585 0.0109 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA 0.0095 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.835361 3.835361 NA 0.011163 0.002959 NA 0.007 NA 4.1351037 1239 13 21895037 21895037 G T ncRNA_intronic MIPEPP3 NA NA NA ncRNA_intronic ENSG00000224429 NA NA NA NA NA 13q12.11 NA NA NA NA rs9580080 0.41 0.41 0.382 0.415136 0.5318 0.3165 0.3588 0.3646 0.5051 0.53 0.31 0.4 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784359 NA NA NA NA NA 0.471 NA 4.1348666 1239 15 84784964 84784964 C T ncRNA_intronic EFTUD1P1 NA NA NA ncRNA_intronic ENSG00000259404 NA NA NA NA NA 15q25.2 NA NA NA NA rs11637158 NA NA 0.3 0.348442 0.5318 0.2728 0.3689 0.1536 0.4867 NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103676 NA NA NA NA ID=COSN165023;OCCURENCE=1(NS) 0.246 NA 4.1348666 1239 6 31382675 31382675 C T intronic MICA NA NA NA ncRNA_intronic ENSG00000206337 NA NA NA NA NA 6p21.33 NA NA NA NA rs78470849 0.23 0.23 0.186 0.252796 0.1988 0.1776 0.2925 0.3404 0.2393 0.2 0.16 0.29 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779286 NA NA NA NA NA 0.203 NA 4.1345333 1239 14 65419293 65419293 A G intronic CHURC1-FNTB,RAB15 NA NA NA intronic ENSG00000125954,ENSG00000139998 NA NA NA NA NA 14q23.3 Score=930;Name=V$LMO2COM_01 NA NA NA rs45454295 0.4 0.4 0.385 0.373203 0.2853 0.6577 0.2752 0.3714 0.2423 0.28 0.65 0.3 0.35 0.31 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869428 NA NA 0.270349 0.345438 NA 0.261 NA 4.134351 1239 14 65550816 65550816 T A UTR3 MAX NM_145114:c.*82A>T,NM_001271068:c.*82A>T NA NA ncRNA_UTR3 ENSG00000125952 NA NA NA NA NA 14q23.3 NA NA NA NA rs7159443 0.46 0.46 0.49 0.515575 0.3658 0.4177 0.2507 0.8472 0.5102 0.36 0.42 0.27 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865048 NA NA NA NA NA 0.464 NA 4.1342 1239 12 96259951 96259951 G A UTR3 SNRPF NM_003095:c.*102G>A NA NA UTR3 ENSG00000139343 ENST00000266735:c.*102G>A NA NA NA NA 12q23.1 NA NA NA NA rs17369927 0.09 0.09 0.06 0.0782748 0.1998 0.0218 0.0908 0.0076 0.0982 0.2 0.01 0.1 0.01 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168166 NA NA NA NA NA 0.08 NA 4.1335334 1239 17 80059487 80059487 C T UTR3 CCDC57 NM_198082:c.*71G>A NA NA UTR3 ENSG00000176155 ENST00000392347:c.*71G>A,ENST00000389641:c.*71G>A NA NA NA NA 17q25.3 NA NA NA NA rs1127678 0.18 0.18 0.192 0.176717 0.1998 0.0565 0.134 0.2988 0.1421 0.21 0.07 0.15 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538789 NA NA NA NA NA 0.225 NA 4.1335334 1239 5 79355471 79355471 C T intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs401302 0.27 0.27 0.266 0.298722 0.1998 0.2123 0.3098 0.4334 0.2996 0.18 0.23 0.3 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595436 NA NA NA NA ID=COSN167509;OCCURENCE=1(large_intestine) 0.196 NA 4.1335333 1239 19 19916736 19916736 T C intronic ZNF506 NA NA NA ncRNA_intronic ENSG00000267419,ENSG00000267581 NA NA NA NA NA 19p13.11 NA NA NA NA rs12973032 0.28 0.28 0.289 0.285942 0.1998 0.2847 0.2651 0.4713 0.1401 0.2 0.25 0.26 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958747 NA NA NA NA NA 0.246 NA 4.1335333 1239 2 220165763 220165763 T C intronic PTPRN NA NA NA ncRNA_intronic ENSG00000230432 NA NA NA NA NA 2q35 NA NA NA NA rs2292606 0.06 0.06 0.055 0.0696885 0.0964 0.0437 0.0764 0.0212 0.1299 0.09 0.04 0.1 0.02 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035564 NA NA 0.104337 0.03396 NA 0.123 NA 4.1325963 1239 5 109202725 109202725 A G UTR3 MAN2A1 NM_002372:c.*26A>G NA NA UTR3 ENSG00000112893 ENST00000261483:c.*26A>G NA NA NA NA 5q21.3 NA NA NA NA rs1047004 0.03 0.03 0.026 0.0271565 0.0775 NA 0.0432 0.0083 0.0174 0.07 NA 0.05 0.01 0.0514 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095009 NA NA 0.07186 0.019301 NA 0.116 NA 4.1325734 1239 17 7017420 7017420 G A intronic ASGR2 NA NA NA intronic ENSG00000161944 NA NA NA NA NA 17p13.1 NA NA Name=3 NA rs10459916 0.32 0.32 0.314 0.302915 0.2913 0.378 0.3012 0.3585 0.1636 0.29 0.35 0.27 0.37 0.2824 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442665 NA NA 0.29407 0.340445 NA 0.254 NA 4.13223 1239 20 44515059 44515059 T C downstream SPATA25 NA NA NA downstream ENSG00000149634 NA NA NA NA NA 20q13.12 NA Name=Pol2 NA NA rs6094224 0.44 0.44 0.405 0.389377 0.5348 0.4276 0.6225 0.1513 0.3569 0.56 0.44 0.58 0.16 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71182 NA NA NA NA NA 0.42 NA 4.1318666 1239 12 7016449 7016449 C T intronic LRRC23 NA NA NA intronic ENSG00000010626 NA NA NA NA NA 12p13.31 Score=809;Name=V$ARP1_01 NA NA NA rs3741921 0.36 0.36 0.35 0.384385 0.2942 0.2569 0.2723 0.6596 0.316 0.29 0.25 0.34 0.63 0.2967 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.083193 3.083193 NA 0.277442 0.565592 NA 0.391 NA 4.131658 1239 19 57642098 57642098 G A exonic USP29 NA synonymous SNV USP29:NM_020903:exon4:c.G2055A:p.V685V exonic ENSG00000131864 NA synonymous SNV ENSG00000131864:ENST00000598197:exon1:c.G2055A:p.V685V,ENSG00000131864:ENST00000254181:exon4:c.G2055A:p.V685V NA NA 19q13.43 NA NA NA NA rs3764574 0.41 0.41 0.388 0.427117 0.5139 0.3611 0.4712 0.289 0.5613 0.49 0.36 0.5 0.27 0.4899 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29 NA NA 0.531744 0.327508 NA 0.29 NA 4.1311226 1239 7 147926888 147926888 A C ncRNA_intronic MIR548T NA NA NA intronic ENSG00000174469 NA NA NA NA NA 7q36.1 NA NA NA NA rs3779032 0.36 0.36 0.356 0.360224 0.4066 0.3085 0.304 0.413 0.3344 0.4 0.29 0.31 0.41 0.3755 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202102 NA NA 0.420233 0.409215 NA 0.37 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081598.1;CLNDSDB=.;CLNDSDBID=. 4.1310003 1239 2 85824468 85824468 C T intronic RNF181 NA NA NA UTR3 ENSG00000168894 ENST00000441634:c.*149C>T NA NA NA NA 2p11.2 NA NA NA NA rs2232750 0.16 0.16 0.164 0.139377 0.0358 0.2917 0.0548 0.2095 0.0542 0.04 0.32 0.06 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10216 NA NA NA NA NA 0.094 NA 4.1308667 1239 5 115469773 115469773 C T exonic COMMD10 NA synonymous SNV COMMD10:NM_016144:exon5:c.C408T:p.T136T exonic ENSG00000145781 NA nonsynonymous SNV ENSG00000145781:ENST00000507356:exon5:c.C403T:p.R135C NA NA 5q23.1 NA NA NA NA rs1129496 0.47 0.47 0.454 0.432508 0.6571 0.3839 0.536 0.1415 0.5716 0.66 0.39 0.62 0.16 0.5698 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.013109 4.013109 NA 0.642558 0.226158 ID=COSM149902;OCCURENCE=1(stomach) 0.391 NA 4.130542 1239 11 18741165 18741165 C T intronic IGSF22 NA NA NA ncRNA_intronic ENSG00000254966 NA NA NA NA NA 11p15.1 NA NA NA NA rs12418990 0.22 0.22 0.195 0.200879 0.2028 0.1925 0.3084 0.1914 0.1442 0.22 0.18 0.29 0.22 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996634 NA NA NA NA NA 0.188 NA 4.1305333 1239 5 72151858 72151858 T A intronic TNPO1 NA NA NA intronic ENSG00000083312 NA NA NA NA NA 5q13.2 NA NA Name=18 NA rs34660 0.83 0.83 0.83 0.803115 0.8698 0.8571 0.8429 0.7375 0.7393 0.88 0.86 0.8 0.74 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884795 NA NA NA NA NA 0.768 NA 4.1302 1239 17 25758401 25758401 C T ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA NA NA 17q11.1 NA NA NA NA rs12603363 0.6 0.6 0.563 0.577476 0.5368 0.6835 0.4582 0.6498 0.4969 0.56 0.68 0.47 0.65 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.013802 NA NA NA NA NA 0.623 NA 4.1298666 1239 7 142495126 142495126 G A intergenic PRSS3P2,EPHB6 dist=12727;dist=57666 NA NA upstream;downstream ENSG00000211771;ENSG00000211765,ENSG00000211766,ENSG00000211767,ENSG00000211768,ENSG00000211769,ENSG00000211770 NA NA NA NA NA 7q34 NA Name=Pol2,SUZ12 Name=12 NA rs12532977 0.29 0.29 0.261 0.270168 0.493 0.1766 0.4135 0.1475 0.2014 0.46 0.15 0.38 0.14 0.3928 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407295 NA NA 0.484742 0.195268 NA NA NA 4.129458 1239 16 1244877 1244877 G A intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA Name=GABP,SMC3_(ab9263),Rad21,CTCF,CTCF_(SC-5916),CTCF_(C-20),ZBTB7A_(SC-34508) NA NA rs9936834 0.85 0.85 0.869 0.84365 0.8708 1 0.8804 0.649 0.8916 0.89 0.99 0.84 0.64 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092279 NA NA NA NA NA 0.674 NA 4.1292 1239 X 1428607 1428607 C T UTR3 CSF2RA NM_001161532:c.*235C>T,NM_172249:c.*339C>T,NM_006140:c.*235C>T,NM_001161529:c.*235C>T,NM_172245:c.*235C>T,NM_172246:c.*125C>T,NM_001161530:c.*235C>T,NM_172247:c.*339C>T NA NA UTR3 ENSG00000198223 ENST00000501036:c.*235C>T,ENST00000361536:c.*339C>T,ENST00000432318:c.*235C>T,ENST00000381529:c.*235C>T,ENST00000381524:c.*235C>T,ENST00000355432:c.*125C>T,ENST00000486791:c.*444C>T,ENST00000355805:c.*339C>T,ENST00000417535:c.*235C>T NA NA NA NA Xp22.33 NA NA NA NA rs28416688 0.17 0.17 0.14706 NA NA NA NA NA NA 0.13 0.37 0.14 0.03 0.2043 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606524 NA NA NA NA NA 0.116 NA 4.1290334 1239 6 128312033 128312033 A G intronic PTPRK NA NA NA intronic ENSG00000152894 NA NA NA Score=597;Name=lod=357 NA 6q22.33 NA NA NA NA rs12055782 0.3 0.3 0.273 0.263179 0.2903 0.4454 0.3775 0.0416 0.2658 0.3 0.47 0.36 0.05 0.2965 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062373 NA NA 0.284202 0.095141 NA 0.159 NA 4.128998 1239 13 21895046 21895046 T C ncRNA_intronic MIPEPP3 NA NA NA ncRNA_intronic ENSG00000224429 NA NA NA NA NA 13q12.11 NA NA NA NA rs9580081 0.43 0.43 0.413 0.434105 0.5378 0.3264 0.366 0.416 0.5112 0.54 0.33 0.41 0.42 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758955 NA NA NA NA NA 0.486 NA 4.1288666 1239 17 25756890 25756890 G A ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA NA NA 17q11.1 NA NA NA NA rs4795660 0.6 0.6 0.629 0.578075 0.5378 0.6835 0.4582 0.6505 0.498 0.56 0.68 0.47 0.66 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437917 NA NA NA NA NA 0.623 NA 4.1288666 1239 6 32609057 32609057 G A intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9272687 0.28 0.28 0.302 0.275958 0.2922 0.2302 0.3357 0.3238 0.1994 0.27 0.22 0.36 0.32 0.2994 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8952 NA NA 0.27986 0.31911 NA 0.203 NA 4.12854 1239 10 135351174 135351174 T A intronic CYP2E1 NA NA NA intronic ENSG00000130649,ENSG00000203772 NA NA NA NA NA 10q26.3 NA NA Name=18 NA rs2070677 0.72 0.72 0.69 0.692891 0.8718 0.7946 0.8184 0.3101 0.8323 0.88 0.81 0.82 0.32 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428912 NA NA NA NA NA 0.739 NA 4.1282 1239 19 966693 966693 C T exonic ARID3A NA synonymous SNV ARID3A:NM_005224:exon7:c.C1320T:p.A440A exonic ENSG00000116017 NA synonymous SNV ENSG00000116017:ENST00000263620:exon7:c.C1320T:p.A440A NA NA 19p13.3 NA NA Name=6 NA rs6510986 0.7 0.7 0.725 0.714856 0.8698 0.5724 0.6066 0.6702 0.8395 0.86 0.54 0.7 0.66 0.7977 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.566649 NA NA 0.871037 0.712424 NA 0.478 NA 4.1281296 1239 4 48496368 48496368 A G UTR3 ZAR1 NM_175619:c.*107A>G NA NA UTR3 ENSG00000182223 ENST00000327939:c.*107A>G NA NA NA NA 4p11 NA NA NA NA rs17472127 0.16 0.16 0.159 0.160144 0.2058 0.125 0.111 0.1725 0.1677 0.21 0.1 0.1 0.19 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095779 NA NA NA NA NA 0.188 NA 4.1275334 1239 15 62939440 62939440 T C upstream TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA Name=AP-2gamma NA NA rs938979 0.63 0.63 0.632 0.629393 0.7058 0.378 0.6513 0.6876 0.7157 0.7 0.42 0.68 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065272 NA NA NA NA NA 0.609 NA 4.1275333 1239 11 6622714 6622714 G A exonic RRP8 NA synonymous SNV RRP8:NM_015324:exon3:c.C582T:p.N194N exonic ENSG00000132275 NA synonymous SNV ENSG00000132275:ENST00000254605:exon3:c.C582T:p.N194N,ENSG00000132275:ENST00000533907:exon3:c.C582T:p.N194N Score=489;Name=lod=130 NA 11p15.4 NA NA NA NA rs2288283 0.76 0.76 0.734 0.739018 0.8598 0.9137 0.7925 0.3911 0.8671 0.86 0.9 0.81 0.43 0.8197 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478371 NA NA 0.859637 0.475239 NA 0.746 NA 4.1275296 1239 7 30485741 30485741 A G intronic NOD1 NA NA NA intronic ENSG00000106100 NA NA NA NA NA 7p14.3 NA Name=NFKB,ZEB1_(SC-25388),Rad21,CTCF,WHIP,SMC3_(ab9263),MEF2A,YY1_(C-20) NA NA rs2907749 0.33 0.33 0.334 0.336462 0.2783 0.2212 0.353 0.5257 0.2474 0.27 0.26 0.35 0.5 0.3008 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117117 NA NA 0.293372 0.48956 ID=COSN168001;OCCURENCE=1(large_intestine) 0.457 NA 4.127528 1239 5 79095145 79095145 T G intronic CMYA5 NA NA NA ncRNA_intronic ENSG00000250258 NA NA NA NA NA 5q14.1 NA NA NA NA rs3749683 0.08 0.08 0.077 0.0922524 0.0636 0.1111 0.0418 0.143 0.0695 0.06 0.1 0.04 0.13 0.0757 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815354 NA NA 0.06665 0.12662 NA 0.094 NA 4.1273833 1239 1 45457873 45457873 G A intergenic EIF2B3,HECTD3 dist=5479;dist=10347 NA NA upstream ENSG00000268949 NA NA NA Score=609;Name=lod=398 NA 1p34.1 NA NA NA NA rs401665 0.47 0.47 0.46 0.479433 0.3728 0.4395 0.5793 0.6452 0.3354 0.36 0.43 0.5 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05165 NA NA NA NA NA 0.507 NA 4.1272 1239 17 73231148 73231148 C G intronic NUP85 NA NA NA UTR3 ENSG00000125450 ENST00000447371:c.*139C>G,ENST00000581104:c.*1400C>G NA NA NA NA 17q25.1 NA NA NA NA rs73356305 0.09 0.09 0.08 0.105831 0.002 0.1002 0.0692 0.2209 0.089 0.004 0.06 0.07 0.26 0.0361 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124345 NA NA 0.002326 0.168861 NA 0.101 NA 4.1262407 1239 8 98877537 98877537 T C intergenic LAPTM4B,MATN2 dist=12707;dist=3774 NA NA ncRNA_exonic ENSG00000243504 NA NA NA Score=750;Name=lod=1484 NA 8q22.1 NA NA NA NA rs6468601 0.79 0.79 0.789 0.765775 0.8738 0.6587 0.7637 0.8101 0.7065 0.87 0.63 0.79 0.84 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560093 NA NA NA NA NA 0.775 NA 4.1262 1239 18 29543204 29543204 T C intergenic TRAPPC8,RNF125 dist=20113;dist=55241 NA NA ncRNA_exonic ENSG00000265273 NA NA NA Score=640;Name=lod=532 NA 18q12.1 NA NA NA NA rs6506951 0.84 0.84 0.847 0.839657 0.8738 0.7272 0.9063 0.9221 0.7618 0.87 0.7 0.9 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416382 NA NA NA NA NA 0.877 NA 4.1262 1239 16 84209634 84209634 C G exonic DNAAF1 NA synonymous SNV DNAAF1:NM_178452:exon11:c.C1794G:p.L598L exonic ENSG00000154099 NA synonymous SNV ENSG00000154099:ENST00000569735:exon1:c.C96G:p.L32L,ENSG00000154099:ENST00000378553:exon11:c.C1794G:p.L598L NA NA 16q24.1 NA NA NA NA rs2288019 0.52 0.52 0.529 0.531749 0.504 0.5268 0.5245 0.5159 0.592 0.5 0.55 0.49 0.52 0.528 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189818 NA NA 0.508605 0.514773 ID=COSM148129;OCCURENCE=1(stomach) 0.442 NA 4.1260616 1239 6 33641379 33641379 T C exonic ITPR3 NA synonymous SNV ITPR3:NM_002224:exon23:c.T2940C:p.N980N exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon23:c.T2940C:p.N980N,ENSG00000096433:ENST00000374316:exon24:c.T2940C:p.N980N NA NA 6p21.31 NA NA NA NA rs1803831 0.45 0.45 0.425 0.47504 0.505 0.5268 0.4813 0.3086 0.6115 0.49 0.49 0.45 0.31 0.5105 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699519 NA NA 0.525233 0.327281 NA 0.486 NA 4.1259336 1239 17 56440526 56440526 G A intronic RNF43 NA NA NA ncRNA_intronic ENSG00000265148 NA NA NA NA NA 17q22 NA NA NA NA rs2526372 0.11 0.11 0.086 0.0964457 0.2078 NA 0.1225 0.0847 0.0787 0.18 NA 0.15 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.464995 1.464995 NA NA NA NA 0.21 NA 4.1255333 1239 19 54626055 54626055 C G intronic PRPF31 NA NA NA ncRNA_exonic ENSG00000237017 NA NA NA NA NA 19q13.42 NA NA NA NA rs56220912 0.21 0.21 0.202 0.188299 0.2078 0.1974 0.2075 0.118 0.2403 0.22 0.25 0.22 0.14 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024145 NA NA NA NA NA 0.123 NA 4.1255333 1239 5 149602280 149602280 T C intronic CAMK2A NA NA NA UTR3 ENSG00000011083 ENST00000524041:c.*116T>C NA NA Score=383;Name=lod=48 NA 5q32 NA NA NA NA rs55976097 0.31 0.31 0.291 0.310903 0.3419 0.1558 0.3862 0.3797 0.2924 0.35 0.16 0.39 0.39 0.3482 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585894 NA NA 0.351223 0.354176 ID=COSM149998;OCCURENCE=1(stomach) 0.355 NA 4.1253437 1239 8 63055991 63055991 T C intergenic MIR4470,NKAIN3 dist=428573;dist=105510 NA NA ncRNA_exonic ENSG00000237810 NA NA NA Score=680;Name=lod=776 NA 8q12.3 NA NA NA NA rs4256587 0.74 0.74 0.723 0.742013 0.8748 0.6478 0.7594 0.6089 0.8701 0.88 0.64 0.8 0.61 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281519 NA NA NA NA NA 0.688 NA 4.1252 1239 8 63056052 63056052 A C intergenic MIR4470,NKAIN3 dist=428634;dist=105449 NA NA ncRNA_exonic ENSG00000237810 NA NA NA Score=680;Name=lod=776 NA 8q12.3 NA NA NA NA rs4445217 0.74 0.74 0.721 0.733626 0.8748 0.6478 0.7565 0.5787 0.8701 0.88 0.64 0.8 0.59 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342895 NA NA NA NA NA 0.667 NA 4.1252 1239 13 29174007 29174007 T C intergenic FLT1,POMP dist=104742;dist=59134 NA NA ncRNA_exonic ENSG00000235472 NA NA NA Score=798;Name=lod=2344 NA 13q12.3 NA NA NA NA rs7987859 0.82 0.82 0.83 0.786342 0.8748 0.8185 0.7839 0.736 0.7321 0.89 0.82 0.79 0.76 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010346 NA NA NA NA NA 0.725 NA 4.1252 1240 9 115924973 115924973 A G intronic SLC31A2 NA NA NA UTR3 ENSG00000119321 ENST00000446284:c.*3385T>C NA NA NA NA 9q32 NA NA NA NA rs10817449 0.05 0.05 0.048 0.0794728 0.0417 0.0387 0.0274 0.1135 0.1513 0.04 0.02 0.03 0.12 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.087152 2.087152 NA NA NA NA 0.094 NA 4.1249667 1240 8 134488007 134488007 G A exonic ST3GAL1 NA synonymous SNV ST3GAL1:NM_003033:exon4:c.C261T:p.T87T,ST3GAL1:NM_173344:exon5:c.C261T:p.T87T exonic ENSG00000008513 NA synonymous SNV ENSG00000008513:ENST00000399640:exon2:c.C261T:p.T87T,ENSG00000008513:ENST00000319914:exon4:c.C261T:p.T87T,ENSG00000008513:ENST00000521180:exon4:c.C261T:p.T87T,ENSG00000008513:ENST00000522652:exon5:c.C261T:p.T87T NA NA 8q24.22 NA NA NA NA rs2230542 0.42 0.42 0.443 0.440495 0.501 0.1657 0.4308 0.5893 0.4673 0.5 0.14 0.46 0.58 0.4965 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791301 NA NA 0.544884 0.575352 ID=COSM1132840;OCCURENCE=1(prostate) 0.442 NA 4.1242826 1240 3 71247572 71247572 A T intronic FOXP1 NA NA NA intronic ENSG00000114861 NA NA NA NA NA 3p13 NA NA Name=5 NA rs56850311 0.26 0.26 0.26 0.26258 0.2893 0.1062 0.2522 0.3964 0.2229 0.26 0.1 0.3 0.4 0.3403 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.832436 NA NA 0.246247 0.338794 NA 0.275 NA 4.124153 1240 18 673086 673086 A G UTR3 ENOSF1,TYMS NM_202758:c.*1219T>C,NM_017512:c.*1219T>C;NM_001071:c.*89A>G NA NA UTR3 ENSG00000176890 ENST00000323274:c.*89A>G,ENST00000323224:c.*89A>G NA NA NA NA 18p11.32 NA NA NA NA rs2790 0.28 0.28 0.286 0.29393 0.2097 0.3909 0.2349 0.2466 0.3865 0.2 0.41 0.2 0.29 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690108 NA NA NA NA NA 0.304 NA 4.1236334 1240 1 151789611 151789611 C T intronic RORC NA NA NA intronic ENSG00000143365 NA NA NA NA NA 1q21.3 NA NA Name=9 NA rs55841824 NA NA NA 0.785343 0.8767 0.8472 0.634 0.702 0.8476 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436843 NA NA NA NA NA NA NA 4.1233 1240 6 31249132 31249132 A T intergenic HLA-C,HLA-B dist=9219;dist=72517 NA NA ncRNA_exonic ENSG00000227939 NA NA NA Score=849;Name=lod=3743 NA 6p21.33 NA NA NA NA rs9264761 0.87 0.87 0.878 0.889776 0.8767 0.8343 0.9035 0.9493 0.8701 0.87 0.82 0.88 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775111 NA NA NA NA NA 0.862 NA 4.1233 1240 1 24434595 24434595 T C intronic MYOM3 NA NA NA intronic ENSG00000142661 NA NA NA NA NA 1p36.11 NA Name=Pol2,c-Fos Name=89 NA rs11249170 0.64 0.64 0.671 0.702676 0.6153 0.6984 0.5778 0.7784 0.7832 0.59 0.69 0.53 0.73 0.6349 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660037 NA NA 0.626623 0.751378 NA 0.754 NA 4.123177 1240 15 75979782 75979782 G T exonic CSPG4 NA synonymous SNV CSPG4:NM_001897:exon3:c.C3624A:p.R1208R exonic ENSG00000173546 NA synonymous SNV ENSG00000173546:ENST00000308508:exon3:c.C3624A:p.R1208R NA NA 15q24.2 NA NA NA NA rs8030131 0.38 0.38 0.337 0.384385 0.5189 0.2292 0.5245 0.2716 0.4591 0.52 0.19 0.51 0.28 0.4831 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354187 NA NA 0.541579 0.299863 NA 0.391 NA 4.1230876 1240 15 42434254 42434254 G A exonic PLA2G4F NA synonymous SNV PLA2G4F:NM_213600:exon20:c.C2478T:p.N826N exonic ENSG00000168907 NA synonymous SNV ENSG00000168907:ENST00000382396:exon20:c.C2478T:p.N826N,ENSG00000168907:ENST00000397272:exon20:c.C2484T:p.N828N NA NA 15q15.1 NA NA NA NA rs655427 0.43 0.43 0.432 0.399361 0.5487 0.3452 0.415 0.3964 0.2945 0.55 0.33 0.43 0.36 0.4677 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040045 NA NA 0.527565 0.412846 NA 0.507 NA 4.1227016 1240 2 28840691 28840691 C T intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA Name=GATA-2 NA NA rs1534478 0.27 0.27 0.271 0.259385 0.3072 0.3304 0.2363 0.1634 0.2832 0.31 0.31 0.22 0.2 0.2824 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565577 NA NA 0.287791 0.173854 NA 0.341 NA 4.122609 1240 15 41821752 41821752 T C exonic RPAP1 NA synonymous SNV RPAP1:NM_015540:exon9:c.A1074G:p.R358R exonic ENSG00000103932 NA synonymous SNV ENSG00000103932:ENST00000304330:exon9:c.A1074G:p.R358R,ENSG00000103932:ENST00000561603:exon9:c.A1074G:p.R358R,ENSG00000103932:ENST00000562303:exon9:c.A1074G:p.R358R NA NA 15q15.1 NA NA NA NA rs1200349 0.51 0.51 0.515 0.511382 0.5179 0.3542 0.5692 0.6475 0.4417 0.53 0.34 0.56 0.66 0.5222 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100084 NA NA 0.504186 0.633 NA 0.493 NA 4.1223806 1240 1 246490438 246490438 T C intronic SMYD3 NA NA NA intronic ENSG00000185420 NA NA NA NA NA 1q44 NA NA Name=9 NA rs3737245 0.82 0.82 0.82 0.816294 0.8777 0.6865 0.7464 0.9334 0.7781 0.87 0.7 0.77 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.028003 2.028003 NA NA NA NA 0.739 NA 4.1223 1240 1 246490442 246490442 A G intronic SMYD3 NA NA NA intronic ENSG00000185420 NA NA NA NA NA 1q44 NA NA Name=9 NA rs3737246 0.82 0.82 0.823 0.816294 0.8777 0.6865 0.7464 0.9334 0.7781 0.87 0.7 0.77 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390425 1.390425 NA NA NA NA 0.739 NA 4.1223 1240 18 8069868 8069868 C T exonic PTPRM NA synonymous SNV PTPRM:NM_001105244:exon8:c.C1317T:p.N439N,PTPRM:NM_002845:exon8:c.C1317T:p.N439N exonic ENSG00000173482 NA synonymous SNV ENSG00000173482:ENST00000444013:exon4:c.C678T:p.N226N,ENSG00000173482:ENST00000332175:exon8:c.C1317T:p.N439N,ENSG00000173482:ENST00000400053:exon8:c.C1131T:p.N377N,ENSG00000173482:ENST00000400060:exon8:c.C1317T:p.N439N,ENSG00000173482:ENST00000580170:exon8:c.C1317T:p.N439N NA NA 18p11.23 NA NA NA NA rs2230601 0.44 0.44 0.435 0.474441 0.5239 0.2946 0.5159 0.5325 0.501 0.52 0.26 0.49 0.51 0.5032 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716016 NA NA 0.517558 0.56877 NA 0.514 NA 4.1220086 1240 19 2993427 2993427 T C intronic TLE6 NA NA NA intronic ENSG00000104953 NA NA NA Score=325;Name=lod=28 NA 19p13.3 NA NA NA NA rs435806 0.42 0.42 0.425 0.466454 0.2763 0.5278 0.3256 0.6997 0.3834 0.27 0.49 0.31 0.64 0.3356 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132417 NA NA 0.266395 0.620517 NA 0.572 NA 4.121705 1240 1 45474008 45474008 T C intronic HECTD3 NA NA NA exonic ENSG00000126107 NA synonymous SNV ENSG00000126107:ENST00000372168:exon1:c.A54G:p.L18L NA NA 1p34.1 NA NA NA NA rs7541207 0.24 0.24 0.221 0.246605 0.2127 0.2897 0.4092 0.1558 0.2444 0.22 0.27 0.34 0.16 0.2571 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065485 NA NA 0.242067 0.156803 ID=COSM146496;OCCURENCE=1(stomach) 0.341 NA 4.1214663 1240 3 57132200 57132200 A G exonic IL17RD NA synonymous SNV IL17RD:NM_017563:exon12:c.T1531C:p.L511L exonic ENSG00000144730 NA synonymous SNV ENSG00000144730:ENST00000296318:exon12:c.T1531C:p.L511L,ENSG00000144730:ENST00000427856:exon12:c.T1459C:p.L487L,ENSG00000144730:ENST00000463523:exon12:c.T1099C:p.L367L,ENSG00000144730:ENST00000320057:exon13:c.T1099C:p.L367L Score=381;Name=lod=47 NA 3p14.3 NA NA NA NA rs2291462 0.71 0.71 0.67 0.736222 0.8618 0.5129 0.8501 0.6142 0.9213 0.87 0.52 0.86 0.58 0.8239 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604746 NA NA 0.859535 0.657286 NA 0.754 NA 4.1214316 1240 1 111441829 111441829 C T UTR3 CD53 NM_001040033:c.*12C>T,NM_000560:c.*12C>T NA NA UTR3 ENSG00000143119 ENST00000429072:c.*12C>T,ENST00000271324:c.*12C>T NA NA NA NA 1p13.3 NA Name=SRF Name=2 NA rs1803259 0.59 0.59 0.569 0.556709 0.7614 0.501 0.7349 0.3169 0.6012 0.76 0.52 0.7 0.33 0.6871 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526118 NA NA 0.763488 0.388334 NA 0.638 NA 4.1213454 1240 7 75442587 75442587 A G intronic CCL24 NA NA NA intronic ENSG00000106178 NA NA NA NA NA 7q11.23 NA NA Name=15 NA rs3815261 0.42 0.42 0.363 0.407748 0.2833 0.6895 0.4496 0.3026 0.3579 0.29 0.69 0.4 0.31 0.339 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180397 NA NA 0.256628 0.326827 NA 0.442 NA 4.121072 1240 6 5999464 5999464 C G intronic NRN1 NA NA NA intronic ENSG00000124785 NA NA NA Score=709;Name=lod=1015 NA 6p25.1 NA NA Name=48 NA rs3749860 0.53 0.53 0.54 0.501398 0.6521 0.2827 0.4539 0.6135 0.454 0.66 0.31 0.5 0.62 0.5666 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346728 NA NA 0.660233 0.631866 NA 0.688 NA 4.121067 1240 11 33097223 33097223 A C upstream LINC00294 NA NA NA ncRNA_exonic ENSG00000213713 NA NA NA NA NA 11p13 NA NA NA NA rs61889303 0.02 0.02 0.015 0.014976 0.0457 NA 0.0274 0.0015 0.0082 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524665 NA NA NA NA NA 0.109 NA 4.1209666 1240 8 125107207 125107207 C T exonic FER1L6 NA synonymous SNV FER1L6:NM_001039112:exon35:c.C4623T:p.V1541V exonic ENSG00000214814 NA synonymous SNV ENSG00000214814:ENST00000399018:exon34:c.C4623T:p.V1541V,ENSG00000214814:ENST00000522917:exon35:c.C4623T:p.V1541V Score=531;Name=lod=191 NA 8q24.13 NA NA NA NA rs6470220 0.77 0.77 0.779 0.759585 0.8728 0.6627 0.7003 0.733 0.8211 0.86 0.7 0.72 0.75 0.8116 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508346 NA NA 0.86136 0.760597 NA 0.87 NA 4.1209066 1240 13 27239161 27239161 A G intronic WASF3 NA NA NA intronic ENSG00000132970 NA NA NA NA NA 13q12.13 NA Name=Pol2 NA NA rs977351 0.24 0.24 0.234 0.271366 0.2982 0.1091 0.2392 0.2859 0.4141 0.31 0.1 0.24 0.3 0.2829 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165782 NA NA 0.29814 0.298911 NA 0.275 NA 4.12076 1240 4 8605684 8605684 C A intronic CPZ NA NA NA UTR5 ENSG00000109625 ENST00000429646:c.-7262C>A NA NA NA NA 4p16.1 NA NA NA NA rs116765715 0.02 0.02 0.011 0.0289537 0.0159 0.002 0.0144 0.0492 0.0532 0.01 NA 0.01 0.03 0.0187 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330313 NA NA 0.011372 0.048706 NA 0.036 NA 4.1206947 1240 11 125618731 125618731 T C UTR3 PATE1 NM_138294:c.*103T>C NA NA UTR3 ENSG00000171053 ENST00000305738:c.*103T>C,ENST00000437148:c.*103T>C NA NA NA NA 11q24.2 NA NA NA NA rs7939499 NA NA 0.463 0.301717 0.2127 0.3968 0.1484 0.3971 0.2751 NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243453 NA NA NA NA NA 0.196 NA 4.1206334 1240 21 45971357 45971357 A C UTR5 KRTAP10-2 NM_198693:c.-16T>G NA NA UTR5 ENSG00000205445 ENST00000391621:c.-16T>G NA NA NA NA 21q22.3 NA NA NA NA rs456478 0.03 0.03 NA 0.0329473 0.0716 0.001 0.0576 0.0106 0.0389 0.06 NA 0.05 0.01 0.0595 0.082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.644722 1.644722 NA 0.081628 0.014299 NA 0.022 NA 4.1206054 1240 7 75612803 75612803 C T intronic POR NA NA NA intronic ENSG00000127948 NA NA NA NA NA 7q11.23 NA Name=TCF4 NA NA rs41301394 0.28 0.28 0.241 0.27496 0.2932 0.3681 0.2709 0.1377 0.3487 0.3 0.39 0.28 0.12 0.3013 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178304 NA NA 0.285061 0.153343 ID=COSN168117;OCCURENCE=1(large_intestine) 0.261 NA 4.120439 1240 1 194158916 194158916 A G intergenic CDC73,KCNT2 dist=934974;dist=2035997 NA NA ncRNA_exonic ENSG00000233057 NA NA NA Score=859;Name=lod=4125 NA 1q31.3 NA NA NA NA rs1982793 0.87 0.87 0.863 0.86242 0.8797 0.998 0.8818 0.6967 0.9151 0.87 1 0.86 0.73 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137744 NA NA NA NA NA 0.87 NA 4.1203 1240 12 63397682 63397682 A G intergenic PPM1H,AVPR1A dist=69017;dist=138857 NA NA ncRNA_exonic ENSG00000250517 NA NA NA Score=576;Name=lod=292 NA 12q14.2 NA NA NA NA rs1250159 0.82 0.82 0.803 0.820487 0.8797 0.9137 0.7349 0.6959 0.8926 0.88 0.88 0.75 0.7 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012247 NA NA NA NA NA 0.841 NA 4.1203 1240 14 95080659 95080659 G A intronic SERPINA3 NA NA NA UTR5 ENSG00000196136 ENST00000467132:c.-120G>A NA NA NA NA 14q32.13 NA NA NA NA rs71431651 0.02 0.02 0.023 0.0217652 0.0467 0.001 0.0202 0.0015 0.046 0.05 NA 0.02 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009674 NA NA NA NA NA 0.014 NA 4.1199667 1240 18 28723832 28723832 G A intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs12454773 0.36 0.36 0.352 0.334665 0.2137 0.5685 0.3703 0.3699 0.1452 0.2 0.58 0.35 0.37 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959856 NA NA NA NA NA 0.268 NA 4.1196333 1240 18 28723835 28723835 C T intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs12454734 0.37 0.37 0.36 0.345647 0.2137 0.5685 0.3746 0.4092 0.1452 0.2 0.58 0.35 0.41 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208587 NA NA NA NA NA 0.268 NA 4.1196333 1240 9 36643131 36643131 A G intronic MELK NA NA NA intronic ENSG00000165304 NA NA NA NA NA 9p13.2 NA Name=CEBPB NA NA rs9298970 0.34 0.34 0.287 0.370208 0.2932 0.2351 0.3012 0.5953 0.3333 0.3 0.22 0.3 0.58 0.3108 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688867 NA NA 0.276408 0.54108 NA 0.449 NA 4.119592 1240 1 167023426 167023426 C T UTR3 GPA33 NM_005814:c.*145G>A NA NA ncRNA_UTR3 ENSG00000143167 NA NA NA NA NA 1q24.1 NA NA NA NA rs3820388 0.4 0.4 0.356 0.407548 0.3807 0.4554 0.5663 0.1823 0.5777 0.39 0.52 0.52 0.18 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152758 NA NA NA NA NA 0.29 NA 4.1193 1240 14 106926311 106926311 T G intergenic LINC00226,LINC00221 dist=181345;dist=12144 NA NA exonic ENSG00000232216 NA synonymous SNV ENSG00000232216:ENST00000434710:exon2:c.A231C:p.T77T NA NA 14q32.33 NA NA NA NA rs4977158 0.17 0.17 0.155 0.204872 0.1103 0.1647 0.1354 0.2693 0.3057 0.12 0.17 0.12 0.27 0.1603 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.436206 NA NA 0.110319 0.19514 NA 0.159 NA 4.119081 1240 7 47913615 47913615 G A intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA Name=67 NA rs17131867 0.27 0.27 0.271 0.304313 0.2932 0.0962 0.3357 0.4455 0.317 0.29 0.08 0.33 0.43 0.3043 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960219 NA NA 0.283837 0.416704 NA 0.275 NA 4.118663 1240 9 2717676 2717676 T G UTR5 KCNV2 NM_133497:c.-64T>G NA NA UTR5 ENSG00000168263 ENST00000382082:c.-64T>G NA NA NA NA 9p24.2 NA NA NA NA rs11793555 0.19 0.19 0.184 0.197284 0.2147 0.2411 0.1354 0.0582 0.3661 0.22 0.26 0.15 0.07 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.12283 2.12283 NA NA NA NA 0.152 NA 4.1186334 1240 13 46937193 46937193 T C intronic KIAA0226L NA NA NA ncRNA_intronic ENSG00000241353 NA NA NA NA NA 13q14.13 NA NA NA NA rs259699 0.41 0.41 0.43 0.388578 0.2147 0.5863 0.3473 0.5212 0.2137 0.2 0.59 0.35 0.56 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781109 NA NA NA NA NA 0.304 NA 4.1186333 1240 5 173380347 173380347 G A intronic CPEB4 NA NA NA UTR3 ENSG00000113742 ENST00000519835:c.*39G>A NA NA NA NA 5q35.2 NA NA NA NA rs12153678 0.02 0.02 0.012 0.00978435 0.0288 NA 0.0202 0.003 0.002 0.03 NA 0.02 0.0041 0.0195 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494716 NA NA NA NA NA 0.007 NA 4.1183667 1240 1 101722147 101722147 G T intergenic S1PR1,RNU6-31P dist=15071;dist=84278 NA NA ncRNA_exonic ENSG00000228399 NA NA NA Score=710;Name=lod=1021 NA 1p21.2 NA NA NA NA rs9433754 0.81 0.81 0.785 0.791933 0.8817 0.6994 0.9078 0.7421 0.7802 0.89 0.69 0.9 0.75 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.390103 2.390103 NA NA NA NA 0.703 NA 4.1183 1240 19 6593602 6593602 C T intergenic CD70,TNFSF14 dist=2439;dist=69546 NA NA ncRNA_exonic ENSG00000268785 NA NA NA Score=767;Name=lod=1753 NA 19p13.3 NA NA NA NA rs344595 0.93 0.93 0.928 0.925519 0.8817 0.9355 0.9409 0.9887 0.864 0.89 0.92 0.93 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386241 NA NA NA NA NA 0.92 NA 4.1183 1240 12 121789927 121789927 C A intronic ANAPC5 NA NA NA intronic ENSG00000089053 NA NA NA NA NA 12q24.31 NA Name=ZBTB7A_(SC-34508),c-Myc,HA-E2F1,Sin3Ak-20,CTCF,TAF1,BCLAF1_(M33-P5B11),Pol2 Name=10 NA rs1799525 0.52 0.52 0.481 0.486422 0.6481 0.6131 0.5893 0.1233 0.6074 0.66 0.63 0.6 0.13 0.6047 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.728123 1.728123 NA 0.629013 0.208636 NA 0.594 NA 4.118187 1240 8 27690557 27690557 A C intronic PBK NA NA NA splicing ENSG00000168078 ENST00000521226:exon3:c.72+2T>G NA NA NA NA 8p21.1 NA NA NA NA rs10113621 0.2 0.2 0.21 0.222843 0.1064 0.3611 0.1066 0.2837 0.2004 0.09 0.36 0.12 0.26 0.1742 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385518 NA NA 0.101419 0.247727 NA 0.246 NA 4.117981 1240 7 107188719 107188719 G T intronic COG5 NA NA NA intronic ENSG00000164597 NA NA NA Score=594;Name=lod=347 NA 7q22.3 NA NA NA NA rs2066735 0.28 0.28 0.262 0.248802 0.3211 0.3145 0.2954 0.1884 0.1554 0.33 0.29 0.28 0.18 0.2651 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.302681 1.302681 NA 0.296047 0.20631 NA 0.283 NA 4.117753 1240 13 113536132 113536132 T C exonic ATP11A NA synonymous SNV ATP11A:NM_032189:exon29:c.T3330C:p.N1110N exonic ENSG00000068650 NA synonymous SNV ENSG00000068650:ENST00000419631:exon4:c.T306C:p.N102N,ENSG00000068650:ENST00000375630:exon29:c.T3330C:p.N1110N NA NA 13q34 NA NA NA NA rs1290177 0.54 0.54 0.558 0.564896 0.497 0.6359 0.5101 0.5802 0.5798 0.51 0.6 0.55 0.51 0.5311 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58569 NA NA 0.52093 0.571947 NA 0.543 NA 4.1176366 1240 6 151256134 151256134 A G intronic MTHFD1L NA NA NA ncRNA_exonic ENSG00000218996 NA NA NA NA NA 6q25.1 NA NA NA NA rs60471999 0.17 0.17 0.173 0.179712 0.2157 0.0308 0.1369 0.2496 0.2321 0.22 0.02 0.14 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298185 1.298185 NA NA NA NA 0.203 NA 4.1176333 1240 17 12905574 12905574 T A intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA Name=36 NA rs55674356 0.2 0.2 0.193 0.20627 0.3151 0.0347 0.2406 0.2042 0.2495 0.33 0.03 0.23 0.18 0.2706 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002652 NA NA 0.296977 0.216296 NA 0.188 NA 4.117323 1240 12 6569983 6569983 C T intronic TAPBPL NA NA NA intronic ENSG00000139192 NA NA NA NA NA 12p13.31 NA Name=Pol2,Pol2-4H8 NA NA rs2243977 0.24 0.24 0.227 0.233027 0.3042 0.3254 0.1715 0.0877 0.3047 0.29 0.33 0.17 0.1 0.2742 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552268 NA NA 0.304535 0.119383 NA 0.188 NA 4.117065 1240 2 8178798 8178798 C T ncRNA_intronic LINC00299 NA NA NA ncRNA_intronic ENSG00000235665,ENSG00000236790 NA NA NA NA NA 2p25.1 NA NA NA NA rs62104935 0.39 0.39 0.376 0.380192 0.5497 0.2808 0.5115 0.1974 0.4622 0.53 0.25 0.52 0.23 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521517 NA NA NA NA NA 0.355 NA 4.1169666 1240 5 7302041 7302041 A G ncRNA_exonic LOC442132 NA NA NA ncRNA_intronic ENSG00000205976 NA NA NA NA NA 5p15.31 NA NA NA NA rs55745554 0.68 0.68 0.614 0.682708 0.5497 0.8333 0.6916 0.7231 0.6033 0.53 0.83 0.68 0.73 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536768 NA NA NA NA NA 0.5 NA 4.1169666 1240 12 51754629 51754629 A G intronic GALNT6 NA NA NA intronic ENSG00000139629 NA NA NA Score=696;Name=lod=900 NA 12q13.13 NA NA NA NA rs2241545 0.37 0.37 0.332 0.378794 0.2833 0.6925 0.3963 0.0779 0.5481 0.28 0.72 0.36 0.09 0.346 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.189212 2.189212 NA 0.253837 0.11212 NA 0.268 NA 4.116863 1240 19 51955632 51955632 A T UTR3 SIGLEC8 NM_014442:c.*1T>A NA NA UTR3 ENSG00000105366 ENST00000430817:c.*1T>A,ENST00000321424:c.*1T>A,ENST00000340550:c.*1T>A NA NA NA NA 19q13.41 NA NA NA NA rs28379613 0.17 0.17 0.175 0.176118 0.0646 0.1091 0.1124 0.4198 0.0757 0.07 0.1 0.12 0.43 0.0976 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196215 NA NA 0.054884 0.382433 ID=COSN165892;OCCURENCE=1(breast) 0.174 NA 4.1162494 1240 11 111338328 111338328 A G UTR3 BTG4 NM_017589:c.*69T>C NA NA UTR3 ENSG00000137707 ENST00000356018:c.*69T>C NA NA NA NA 11q23.1 NA NA NA NA rs12803406 0.05 0.05 0.046 0.0345447 0.1014 0.002 0.062 0.0106 0.0123 0.1 NA 0.06 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796275 NA NA 0.115965 0.021676 NA 0.051 NA 4.1159684 1240 6 30036269 30036269 A G intronic PPP1R11 NA NA NA UTR5 ENSG00000204619 ENST00000376758:c.-185A>G NA NA NA NA 6p22.1 NA NA NA NA rs9261286 0.05 0.05 0.05 0.0413339 0.0507 0.0357 0.0403 0.0499 0.0266 0.05 0.04 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.554645 1.554645 NA NA NA NA 0.029 NA 4.1159667 1240 1 233785716 233785716 T G intronic KCNK1 NA NA NA exonic ENSG00000135750 NA synonymous SNV ENSG00000135750:ENST00000446915:exon1:c.T30G:p.V10V NA NA 1q42.2 NA NA NA NA rs17814096 0.17 0.17 0.153 0.167332 0.2505 0.1538 0.1931 0.1014 0.1667 0.26 0.11 0.19 0.1 0.217 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097015 NA NA 0.250126 0.128425 NA 0.167 NA 4.1157073 1240 6 30121605 30121605 T C UTR3 TRIM10 NM_006778:c.*141A>G NA NA UTR3 ENSG00000204613 ENST00000449742:c.*141A>G NA NA NA NA 6p22.1 NA NA NA NA rs3734840 0.21 0.21 0.19 0.205471 0.2177 0.4048 0.1427 0.025 0.2761 0.23 0.38 0.18 0.03 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71123 NA NA NA NA NA 0.29 NA 4.1156334 1240 14 81449690 81449690 C G intronic TSHR NA NA NA ncRNA_exonic ENSG00000258915 NA NA NA NA NA 14q31.1 NA NA NA NA rs3783945 0.19 0.19 0.172 0.164137 0.2177 0.1706 0.3012 0.0212 0.1984 0.22 0.21 0.28 0.04 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198103 NA NA NA NA NA 0.254 NA 4.1156333 1240 15 25332965 25332965 T C upstream;downstream SNORD116-21;SNORD116-20 NA NA NA ncRNA_exonic ENSG00000261069 NA NA NA NA NA 15q11.2 NA NA NA NA rs3825770 0.06 0.06 0.061 0.091254 0.0159 0.0863 0.0346 0.2224 0.0368 0.02 0.03 0.03 0.2 0.0356 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91342 NA NA NA NA NA 0.058 NA 4.1151666 1240 1 19483209 19483209 A G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA Name=61 NA rs10799710 0.57 0.57 0.536 0.565695 0.4414 0.7986 0.5605 0.5189 0.5204 0.44 0.81 0.51 0.53 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220213 NA NA 0.443496 0.525114 NA 0.529 NA 4.115104 1240 7 157926349 157926349 T G intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA Name=CTCF,Rad21,CTCF_(SC-5916) NA NA rs17847428 0.31 0.31 0.267 0.339657 0.2992 0.1825 0.2954 0.444 0.4335 0.3 0.18 0.33 0.46 0.3001 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299594 NA NA 0.285664 0.397139 NA 0.333 NA 4.115036 1241 9 90502819 90502819 T C exonic SPATA31E1 NA synonymous SNV SPATA31E1:NM_178828:exon4:c.T3417C:p.T1139T exonic ENSG00000177992 NA synonymous SNV ENSG00000177992:ENST00000325643:exon4:c.T3417C:p.T1139T NA NA 9q22.1 NA NA NA NA rs10868671 0.57 0.57 0.526 0.575879 0.5328 0.5556 0.5533 0.6611 0.5419 0.53 0.55 0.55 0.65 0.5171 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089839 NA NA 0.501977 0.616432 NA 0.543 NA 4.1147896 1241 6 76596728 76596728 C T intronic MYO6 NA NA NA intronic ENSG00000196586 NA NA NA NA NA 6q14.1 NA NA NA NA rs2295936 0.16 0.16 0.138 0.147764 0.2992 0.0516 0.1816 0.0091 0.2546 0.3 0.05 0.22 0.01 0.2512 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176479 NA NA 0.334884 0.058557 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038296.1;CLNDSDB=.;CLNDSDBID=. 4.114716 1241 12 6567787 6567787 T C intronic TAPBPL NA NA NA intronic ENSG00000139192 NA NA NA NA NA 12p13.31 NA Name=Pol2 NA NA rs2243750 0.24 0.24 0.223 0.233427 0.3052 0.3254 0.1715 0.0885 0.3047 0.3 0.33 0.17 0.1 0.2755 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884688 NA NA 0.304651 0.11961 NA 0.196 NA 4.114649 1241 4 190584857 190584857 A G intergenic LOC401164,FRG1 dist=1061795;dist=277117 NA NA intergenic ENSG00000250739,ENSG00000202215 dist=2217;dist=45836 NA NA NA NA 4q35.2 NA NA Name=2 NA rs2879008 NA NA NA 0.166334 0.2187 0.004 0.1671 0.2579 0.1554 NA NA NA NA NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298277 NA NA NA NA NA 0.572 NA 4.1146334 1241 20 3233142 3233142 C G UTR3 C20orf194 NM_001009984:c.*76G>C NA NA UTR3 ENSG00000088854 ENST00000252032:c.*76G>C,ENST00000453730:c.*1247G>C NA NA NA NA 20p13 NA NA NA NA rs6037516 0.24 0.24 0.258 0.23722 0.2187 0.1637 0.1873 0.3767 0.1789 0.22 0.19 0.15 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645488 NA NA NA NA NA 0.29 NA 4.1146334 1241 3 37818805 37818805 G C intronic ITGA9 NA NA NA ncRNA_intronic ENSG00000235257 NA NA NA NA NA 3p22.2 NA NA NA NA rs2276003 0.29 0.29 0.313 0.257788 0.2187 0.371 0.147 0.385 0.0879 0.21 0.35 0.18 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674337 NA NA NA NA NA 0.362 NA 4.1146333 1241 15 101562793 101562793 G A exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon15:c.G2058A:p.S686S exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000525284:exon14:c.G2058A:p.S686S,ENSG00000154237:ENST00000388948:exon15:c.G2058A:p.S686S,ENSG00000154237:ENST00000284395:exon16:c.G2049A:p.S683S NA NA 15q26.3 Score=811;Name=V$PPARG_03 NA NA NA rs11247253 0.76 0.76 0.726 0.730631 0.8668 0.8194 0.8718 0.3752 0.8793 0.87 0.86 0.86 0.41 0.8375 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831991 NA NA 0.848361 0.453807 NA 0.725 NA 4.1140056 1241 1 205063949 205063949 C T intronic RBBP5 NA NA NA intronic ENSG00000117222 NA NA NA Score=503;Name=lod=147 NA 1q32.1 NA NA NA NA rs3738154 0.3 0.3 0.311 0.285543 0.4533 0.0903 0.2752 0.3548 0.228 0.43 0.1 0.35 0.33 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.457715 2.457715 NA 0.432697 0.364155 NA 0.493 NA 4.114003 1241 1 19401405 19401405 G A intronic UBR4 NA NA NA ncRNA_exonic ENSG00000272084 NA NA NA NA NA 1p36.13 NA NA Name=28 NA rs2281748 0.41 0.41 0.368 0.387181 0.4145 0.6101 0.4597 0.177 0.362 0.41 0.62 0.42 0.17 0.4093 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.42869 NA NA 0.395814 0.217431 NA 0.384 NA 4.1137193 1241 3 121350593 121350593 C A UTR3 HCLS1 NM_005335:c.*100G>T NA NA UTR3 ENSG00000180353 ENST00000314583:c.*100G>T,ENST00000428394:c.*100G>T NA NA NA NA 3q13.33 NA NA NA NA rs1128158 0.23 0.23 0.237 0.232827 0.2197 0.2827 0.1772 0.1838 0.3006 0.22 0.31 0.19 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15417 NA NA NA NA NA 0.21 NA 4.1136334 1241 3 121350616 121350616 G T UTR3 HCLS1 NM_005335:c.*77C>A NA NA UTR3 ENSG00000180353 ENST00000314583:c.*77C>A,ENST00000428394:c.*77C>A NA NA NA NA 3q13.33 NA NA NA NA rs1128154 0.23 0.23 0.235 0.233427 0.2197 0.2827 0.1772 0.1853 0.3016 0.22 0.31 0.19 0.17 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269768 NA NA NA NA NA 0.21 NA 4.1136334 1241 6 5609536 5609536 A T intronic FARS2 NA NA NA ncRNA_exonic ENSG00000218574 NA NA NA NA NA 6p25.1 NA NA NA NA rs72819912 0.23 0.23 0.217 0.251398 0.2197 0.2371 0.2147 0.3162 0.2372 0.22 0.2 0.22 0.28 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371318 NA NA NA NA NA 0.341 NA 4.1136333 1241 5 72184098 72184098 C T exonic TNPO1 NA synonymous SNV TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D exonic ENSG00000083312 NA synonymous SNV ENSG00000083312:ENST00000454282:exon12:c.C1347T:p.D449D,ENSG00000083312:ENST00000523768:exon12:c.C1347T:p.D449D,ENSG00000083312:ENST00000337273:exon13:c.C1497T:p.D499D,ENSG00000083312:ENST00000506351:exon13:c.C1473T:p.D491D Score=763;Name=lod=1679 NA 5q13.2 NA NA NA NA rs17606 0.83 0.83 0.831 0.804513 0.8688 0.8562 0.8444 0.7436 0.7393 0.88 0.86 0.8 0.74 0.8318 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012665 NA NA 0.852558 0.75488 NA 0.768 NA 4.1135086 1241 6 37263340 37263340 G A intronic TBC1D22B NA NA NA intronic ENSG00000065491 NA NA NA Score=497;Name=lod=139 NA 6p21.2 NA NA NA NA rs195761 0.92 0.92 0.94 0.924321 0.8867 0.9008 0.9121 0.9924 0.9039 0.89 0.92 0.9 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040761 NA NA NA NA NA 0.935 NA 4.1133 1241 10 5249111 5249111 T C intronic AKR1C4 NA NA NA intronic ENSG00000198610 NA NA NA Score=378;Name=lod=46 NA 10p15.1 NA NA NA NA rs4881412 0.81 0.81 0.78 0.791134 0.8867 0.9871 0.8862 0.4508 0.8834 0.89 0.99 0.88 0.44 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150918 NA NA NA NA NA 0.717 NA 4.1133 1241 18 48960062 48960062 T G ncRNA_intronic LOC100287225 NA NA NA ncRNA_exonic ENSG00000266003 NA NA NA NA NA 18q21.2 NA NA NA NA rs321845 0.61 0.61 0.589 0.599042 0.5537 0.7321 0.6801 0.4236 0.6881 0.58 0.75 0.63 0.47 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.328652 NA NA NA NA NA 0.471 NA 4.1129666 1241 10 94659455 94659455 A G intronic EXOC6 NA NA NA UTR3 ENSG00000138190 ENST00000371543:c.*50A>G NA NA NA NA 10q23.33 NA NA NA NA rs61862266 0.02 0.02 0.028 0.0205671 0.0199 NA 0.0187 0.0439 0.0123 0.02 NA 0.02 0.05 0.0168 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05537 NA NA 0.017003 0.047688 NA 0.036 NA 4.1129637 1241 7 74105196 74105196 C T intronic GTF2I NA NA NA ncRNA_intronic ENSG00000232729 NA NA NA NA NA 7q11.23 NA NA NA NA rs35203738 0.15 0.15 0.142 0.152356 0.2207 0.0625 0.1628 0.1293 0.1984 0.22 0.05 0.17 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.57546 NA NA NA NA NA 0.145 NA 4.1126333 1241 7 74114847 74114847 T C intronic GTF2I NA NA NA ncRNA_intronic ENSG00000160828,ENSG00000232729 NA NA NA NA NA 7q11.23 NA NA NA NA rs2301907 0.16 0.16 0.145 0.161142 0.2207 0.0635 0.1657 0.1604 0.1984 0.22 0.05 0.18 0.17 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283078 NA NA NA NA NA 0.174 NA 4.1126333 1241 9 43400052 43400052 A G intergenic LOC642929,SPATA31A6 dist=254568;dist=224450 NA NA ncRNA_exonic ENSG00000229489 NA NA NA Score=856;Name=lod=4027 NA 9p12 NA NA NA NA rs2928515 0.84 0.84 0.826 0.846246 0.8877 0.9306 0.9251 0.652 0.9233 0.88 0.92 0.92 0.65 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90394 NA NA NA NA NA 0.007 NA 4.1123 1241 17 25753033 25753033 T C ncRNA_exonic TBC1D3P5 NA NA NA ncRNA_exonic ENSG00000266433 NA NA NA NA NA 17q11.1 NA NA NA NA rs13341669 0.55 0.55 0.541 0.582668 0.5547 0.6845 0.4669 0.6505 0.4969 0.53 0.63 0.45 0.57 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23351 NA NA NA NA ID=COSN165371;OCCURENCE=1(breast) 0.601 NA 4.1119666 1241 8 99114970 99114970 A C UTR3 HRSP12 NM_005836:c.*100T>G NA NA UTR3 ENSG00000132541 ENST00000254878:c.*100T>G,ENST00000522791:c.*347T>G,ENST00000520507:c.*100T>G,ENST00000521560:c.*100T>G NA NA NA NA 8q22.2 NA NA NA NA rs8218 0.15 0.15 0.129 0.163139 0.2217 0.0417 0.2464 0.1165 0.2321 0.22 0.03 0.22 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361319 NA NA NA NA NA 0.13 NA 4.1116334 1241 20 57246484 57246484 G A ncRNA_intronic STX16-NPEPL1 NA NA NA intronic ENSG00000124222,ENSG00000254995 NA NA NA NA NA 20q13.32 NA NA NA NA rs34865822 NA NA NA 0.178315 0.2217 0.1171 0.1628 0.1838 0.2004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294126 NA NA NA NA NA 0.007 NA 4.1116333 1241 4 74804846 74804846 C G intergenic CXCL1,PF4 dist=67827;dist=41696 NA NA ncRNA_exonic ENSG00000249920 NA NA NA Score=597;Name=lod=356 NA 4q13.3 NA NA NA NA rs1821623 0.83 0.83 0.798 0.780751 0.8887 0.9782 0.8876 0.4788 0.7986 0.89 0.98 0.89 0.5 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207437 NA NA NA NA NA 0.725 NA 4.1113 1241 19 48845777 48845777 G A intronic TMEM143 NA NA NA intronic ENSG00000161558 NA NA NA NA NA 19q13.33 NA NA Name=3 NA rs4275952 0.18 0.18 0.134 0.151957 0.2823 0.1409 0.2248 0.0303 0.1421 0.27 0.15 0.27 0.03 0.3125 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375944 NA NA 0.294481 0.071071 NA 0.188 NA 4.110719 1241 22 23632513 23632513 A G intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA Name=ZNF263 NA NA rs16802 0.3 0.3 0.313 0.311302 0.3012 0.0744 0.3228 0.5393 0.2495 0.3 0.08 0.31 0.55 0.2901 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324459 1.324459 NA 0.298023 0.509305 NA 0.29 NA 4.110677 1241 7 128142033 128142033 T C UTR3 METTL2B NM_018396:c.*63T>C NA NA UTR3 ENSG00000165055 ENST00000262432:c.*63T>C,ENST00000480046:c.*63T>C NA NA NA NA 7q32.1 NA NA NA NA rs35586323 0.12 0.12 0.105 0.110224 0.2227 0.0496 0.1729 0.0182 0.137 0.21 0.04 0.2 0.03 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.226133 NA NA NA NA NA 0.109 NA 4.1106334 1241 14 25102056 25102056 G C intronic GZMB NA NA NA ncRNA_intronic ENSG00000258657 NA NA NA NA NA 14q12 NA NA NA NA rs9671454 0.19 0.19 0.183 0.209864 0.2227 0.1935 0.1657 0.2027 0.2546 0.22 0.16 0.17 0.17 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180384 NA NA NA NA NA 0.21 NA 4.1106333 1241 15 25332934 25332934 G A downstream SNORD116-20 NA NA NA ncRNA_exonic ENSG00000261069 NA NA NA NA NA 15q11.2 NA NA NA NA rs112202902 0.02 0.02 0.014 0.0233626 0.0159 NA 0.0101 0.0454 0.0348 0.02 NA 0.01 0.03 0.0233 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141136 NA NA 0.017579 0.041667 NA NA NA 4.1098876 1241 4 57461190 57461190 C T intronic THEGL NA NA NA ncRNA_exonic ENSG00000248590 NA NA NA NA NA 4q12 NA NA NA NA rs73240563 0.22 0.22 0.191 0.215655 0.2237 0.371 0.3012 0.0681 0.1861 0.22 0.32 0.28 0.08 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.983619 NA NA NA NA NA 0.268 NA 4.1096333 1241 6 32407709 32407709 C A UTR5 HLA-DRA NM_019111:c.-19C>A NA NA UTR5 ENSG00000204287 ENST00000395388:c.-19C>A,ENST00000374982:c.-19C>A NA NA NA NA 6p21.32 NA Name=TBP,Oct-2,PAX5-C20,NFKB,BCL3,Pol2-4H8,c-Fos,BCLAF1_(M33-P5B11),Sin3Ak-20,YY1_(C-20),YY1,SP1,RFX5_(N-494),Pol2,USF2,POU2F2,WHIP,TAF1 NA NA rs14004 0.39 0.39 0.377 0.409345 0.3877 0.4534 0.4856 0.3215 0.4509 0.38 0.46 0.44 0.27 0.4365 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.108216 2.108216 NA 0.400116 0.33931 NA 0.449 NA 4.1090174 1241 8 110476993 110476993 A G exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon49:c.A7932G:p.A2644A exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000378402:exon49:c.A7932G:p.A2644A NA NA 8q23.1 NA NA NA NA rs1673398 0.47 0.47 0.435 0.515575 0.504 0.4147 0.634 0.3918 0.7147 0.5 0.44 0.61 0.36 0.5339 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.747402 NA NA 0.520039 0.406416 NA 0.594 NA 4.1087276 1241 16 848575 848575 A G UTR3 GNG13 NM_016541:c.*144T>C NA NA UTR3 ENSG00000127588 ENST00000248150:c.*144T>C NA NA NA NA 16p13.3 NA NA NA NA rs2891064 0.31 0.31 0.313 0.36861 0.2247 0.3681 0.2363 0.3979 0.5716 0.22 0.37 0.26 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263739 NA NA NA NA NA 0.232 NA 4.1086334 1241 20 36989381 36989381 G A exonic LBP NA synonymous SNV LBP:NM_004139:exon6:c.G612A:p.S204S exonic ENSG00000129988 NA synonymous SNV ENSG00000129988:ENST00000217407:exon6:c.G612A:p.S204S NA NA 20q11.23 NA NA NA NA rs2232596 0.64 0.64 0.615 0.649361 0.4901 0.8819 0.5375 0.6498 0.6524 0.48 0.88 0.56 0.65 0.5553 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063189 NA NA 0.512791 0.616432 NA 0.601 NA 4.1084756 1241 2 21251040 21251040 T G intronic APOB NA NA NA intronic ENSG00000084674 NA NA NA NA NA 2p24.1 NA Name=Pol2,HEY1 NA NA rs570877 0.88 0.88 0.881 0.874002 0.8917 0.9623 0.7911 0.8275 0.8865 0.89 0.96 0.83 0.83 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692656 NA NA NA NA NA 0.913 NA 4.1083 1241 7 107838637 107838637 C A intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 Score=873;Name=V$NKX3A_01 NA NA NA rs388557 0.94 0.94 0.951 0.931909 0.8917 0.999 0.9236 0.9637 0.8671 0.89 1 0.91 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00955 NA NA NA NA NA 0.906 NA 4.1083 1241 11 113281397 113281397 C T UTR3 DRD2 NM_000795:c.*52G>A,NM_016574:c.*52G>A NA NA ncRNA_UTR3 ENSG00000149295 NA NA NA NA NA 11q23.2 NA Name=CTCF NA NA rs6276 0.48 0.48 0.485 0.466853 0.6918 0.4673 0.5951 0.1399 0.5859 0.67 0.44 0.6 0.15 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831932 NA NA 0.70005 0.229977 NA 0.377 NA 4.10815 1241 19 2853566 2853566 A G exonic ZNF555 NA synonymous SNV ZNF555:NM_001172775:exon4:c.A1500G:p.R500R,ZNF555:NM_152791:exon4:c.A1503G:p.R501R exonic ENSG00000186300 NA synonymous SNV ENSG00000186300:ENST00000334241:exon4:c.A1503G:p.R501R,ENSG00000186300:ENST00000591539:exon4:c.A1500G:p.R500R NA NA 19p13.3 NA Name=SETDB1 NA NA rs10412087 0.87 0.87 0.856 0.876198 0.8479 0.999 0.8847 0.7269 0.9744 0.85 1 0.88 0.74 0.8718 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354846 NA NA 0.839302 0.756695 NA 0.877 NA 4.1076646 1241 5 64919991 64919991 G A intronic TRIM23 NA NA NA intronic ENSG00000113595 NA NA NA Score=272;Name=lod=17 NA 5q12.3 NA Name=Rad21,FOXA2_(SC-6554),Max,ZBTB7A_(SC-34508),CTCF,TAF1,Sin3Ak-20,YY1_(C-20),Ini1,Pol2,PU.1 NA NA rs154854 0.56 0.56 0.553 0.577476 0.6213 0.4137 0.5101 0.6271 0.682 0.64 0.41 0.52 0.62 0.6218 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.845995 1.845995 NA 0.649419 0.621652 NA 0.739 NA 4.107481 1241 6 29856445 29856445 C T ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs1611616 0.27 0.27 0.221 0.314696 0.2644 0.2837 0.2248 0.3147 0.4622 0.26 0.24 0.23 0.36 0.2948 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310467 NA NA NA NA NA 0.29 NA 4.1074666 1241 5 49929151 49929151 G A intergenic EMB,PARP8 dist=191917;dist=32582 NA NA ncRNA_exonic ENSG00000213956 NA NA NA Score=678;Name=lod=759 NA 5q11.1 NA NA NA NA rs7721050 0.9 0.9 0.899 0.897364 0.8926 0.9653 0.8573 0.8933 0.8661 0.89 0.96 0.87 0.88 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249298 NA NA NA NA NA 0.275 NA 4.1074 1241 5 49929350 49929350 A G intergenic EMB,PARP8 dist=192116;dist=32383 NA NA ncRNA_exonic ENSG00000213956 NA NA NA Score=678;Name=lod=759 NA 5q11.1 NA NA NA NA rs7709831 0.92 0.92 0.922 0.912939 0.8926 0.995 0.8746 0.9206 0.8661 0.89 0.99 0.88 0.9 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59301 NA NA NA NA NA 0.768 NA 4.1074 1241 6 29856439 29856439 T G ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs1611615 0.28 0.28 0.213 0.316494 0.2644 0.2837 0.2262 0.3177 0.4663 0.26 0.25 0.24 0.36 0.2951 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540198 NA NA NA NA NA 0.29 NA 4.1071666 1241 4 56770708 56770708 A C UTR3 EXOC1 NM_001024924:c.*47A>C,NM_018261:c.*47A>C,NM_178237:c.*47A>C NA NA UTR3 ENSG00000090989 ENST00000381295:c.*47A>C,ENST00000346134:c.*47A>C,ENST00000349598:c.*47A>C NA NA NA NA 4q12 NA NA NA NA rs17086150 0.07 0.07 0.06 0.0670927 0.0765 0.002 0.0389 0.1218 0.0706 0.09 0.0035 0.03 0.13 0.0674 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637142 NA NA 0.082326 0.119837 NA 0.101 NA 4.1071074 1241 1 120166681 120166681 G A exonic ZNF697 NA synonymous SNV ZNF697:NM_001080470:exon3:c.C285T:p.S95S exonic ENSG00000143067 NA synonymous SNV ENSG00000143067:ENST00000421812:exon3:c.C285T:p.S95S NA NA 1p12 NA NA NA NA rs12067843 0.65 0.65 0.634 0.672324 0.503 0.7758 0.5893 0.7927 0.636 0.51 0.77 0.52 0.79 0.5715 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.945118 NA NA 0.485211 0.763994 NA 0.63 NA 4.1069556 1241 13 51287408 51287408 C G intronic DLEU7 NA NA NA intronic ENSG00000186047 NA NA NA Score=329;Name=lod=29 NA 13q14.3 NA NA NA NA rs41284836 0.24 0.24 0.236 0.214257 0.3191 0.1964 0.196 0.1006 0.2914 0.34 0.21 0.2 0.14 0.2775 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.473326 2.473326 NA 0.296536 0.13714 NA 0.167 NA 4.106864 1241 4 48491010 48491010 A G UTR3 SLC10A4 NM_152679:c.*54A>G NA NA UTR3 ENSG00000145248 ENST00000273861:c.*54A>G NA NA NA NA 4p11 NA NA NA NA rs3811759 0.18 0.18 0.18 0.191893 0.2266 0.122 0.1182 0.2738 0.1697 0.23 0.1 0.11 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455492 NA NA NA NA NA 0.246 NA 4.1067334 1241 10 73578882 73578882 T C intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs4747203 0.42 0.42 0.402 0.409944 0.2793 0.5982 0.3732 0.4592 0.3098 0.28 0.61 0.33 0.48 0.3411 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166262 NA NA 0.273023 0.444167 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080034.1;CLNDSDB=.;CLNDSDBID=. 4.106577 1241 7 142045897 142045897 C T intergenic LOC730441,MTRNR2L6 dist=73829;dist=328234 NA NA downstream ENSG00000211745 NA NA NA NA NA 7q34 NA NA Name=2 NA rs361402 0.22 0.22 0.187 0.22524 0.3936 0.2857 0.3199 0.0303 0.1861 0.33 0.2 0.27 0.05 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.221064 NA NA NA NA NA 0.188 NA 4.1064 1241 9 125390773 125390773 C T downstream OR1B1 NA NA NA ncRNA_intronic ENSG00000234156 NA NA NA NA NA 9q33.2 NA NA NA NA rs4836903 0.11 0.11 0.082 0.111821 0.0606 0.2956 0.1657 0.0219 0.0583 0.06 0.25 0.14 0.03 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534658 NA NA NA NA NA 0.051 NA 4.1060666 1241 12 105568176 105568176 G A exonic APPL2 NA synonymous SNV APPL2:NM_001251904:exon21:c.C1929T:p.D643D,APPL2:NM_001251905:exon21:c.C1782T:p.D594D,APPL2:NM_018171:exon21:c.C1911T:p.D637D exonic ENSG00000136044 NA synonymous SNV ENSG00000136044:ENST00000546731:exon2:c.C240T:p.D80D,ENSG00000136044:ENST00000553109:exon7:c.C504T:p.D168D,ENSG00000136044:ENST00000258530:exon21:c.C1911T:p.D637D,ENSG00000136044:ENST00000539978:exon21:c.C1782T:p.D594D,ENSG00000136044:ENST00000551662:exon21:c.C1929T:p.D643D NA NA 12q23.3 Score=972;Name=V$NFY_Q6 NA NA NA rs935240 0.91 0.91 0.918 0.934105 0.8499 1 0.9179 0.9327 0.9663 0.85 1 0.91 0.92 0.8815 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561608 NA NA 0.829419 0.926237 NA 0.964 NA 4.1058476 1241 9 20786994 20786994 G C intronic FOCAD NA NA NA ncRNA_exonic ENSG00000202189 NA NA NA NA NA 9p21.3 NA NA NA NA rs10511686 0.18 0.18 0.157 0.164537 0.2276 0.1796 0.1888 0.0983 0.1564 0.24 0.17 0.19 0.1 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097161 NA NA NA NA NA 0.145 NA 4.1057333 1241 17 10348806 10348806 G A intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs35747402 0.11 0.11 0.084 0.0698882 0.2276 0.001 0.1009 0.0182 0.0266 0.23 NA 0.12 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05212 NA NA NA NA NA 0.087 NA 4.1057333 1241 17 10356736 10356736 C T intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs71360263 0.11 0.11 0.096 0.0706869 0.2276 0.002 0.1009 0.0212 0.0256 0.23 NA 0.12 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.543755 NA NA NA NA NA 0.087 NA 4.1057333 1241 20 44746982 44746982 T C UTR5 CD40 NM_001250:c.-1T>C,NM_152854:c.-1T>C NA NA UTR5 ENSG00000101017 ENST00000372285:c.-1T>C,ENST00000372276:c.-1T>C NA NA Score=243;Name=lod=13 NA 20q13.12 NA Name=TBP,IRF1,PAX5-C20,PAX5-N19,HEY1,NFKB,Sin3Ak-20,Pol2-4H8,Oct-2,Pol2,SP1,POU2F2,TAF1 NA NA rs1883832 0.76 0.76 0.746 0.771166 0.7406 0.5675 0.7882 0.9743 0.726 0.75 0.59 0.73 0.98 0.7527 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.754855 1.754855 NA 0.734302 0.937131 NA 0.797 NA 4.1057314 1242 11 60673868 60673868 T C UTR5 PRPF19 NM_014502:c.-14A>G NA NA UTR5 ENSG00000110107 ENST00000227524:c.-14A>G,ENST00000541371:c.-14A>G,ENST00000546152:c.-3524A>G NA NA NA NA 11q12.2 NA Name=TBP,USF-1,PAX5-C20,c-Myc,CCNT2,NFKB,Sin3Ak-20,HA-E2F1,Pol2-4H8,YY1,ELK4,Pol2(b),ELF1_(SC-631),TAF7_(SQ-8),YY1_(C-20),Pol2,HMGN3,GABP,ETS1,TAF1 NA NA rs17155470 0.36 0.36 0.383 0.357428 0.3897 0.3254 0.4006 0.3109 0.3896 0.39 0.33 0.41 0.32 0.4474 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132357 NA NA 0.391437 0.29386 NA 0.406 NA 4.1047964 1242 5 80724572 80724572 G A ncRNA_intronic RNU5D-1,RNU5E-1 NA NA NA intronic ENSG00000145687 NA NA NA NA NA 5q14.1 NA NA NA NA rs3764985 0.12 0.12 0.092 0.102835 0.2286 0.0288 0.1686 0.0083 0.1309 0.22 0.03 0.22 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572555 NA NA NA NA NA 0.036 NA 4.1047333 1242 14 88970925 88970925 C T intronic PTPN21 NA NA NA ncRNA_intronic ENSG00000258983 NA NA NA NA NA 14q31.3 NA NA NA NA rs1998670 0.26 0.26 0.248 0.241214 0.2286 0.3562 0.2104 0.1815 0.2382 0.24 0.35 0.22 0.22 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.583358 NA NA NA NA NA 0.29 NA 4.1047333 1242 5 147488367 147488367 C T exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon18:c.C1659T:p.V553V,SPINK5:NM_001127699:exon18:c.C1659T:p.V553V,SPINK5:NM_006846:exon18:c.C1659T:p.V553V exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon18:c.C1659T:p.V553V,ENSG00000133710:ENST00000359874:exon18:c.C1659T:p.V553V,ENSG00000133710:ENST00000398454:exon18:c.C1659T:p.V553V,ENSG00000133710:ENST00000508733:exon18:c.C1602T:p.V534V NA NA 5q32 NA NA NA NA rs2303071 0.57 0.57 0.581 0.602037 0.4901 0.4851 0.6715 0.8086 0.5092 0.46 0.46 0.65 0.83 0.5527 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313596 NA NA 0.519481 0.763215 ID=COSM149973,COSM449063;OCCURENCE=1(breast),1(stomach) 0.572 NA 4.1043856 1242 19 43243218 43243218 A G exonic PSG3 NA synonymous SNV PSG3:NM_021016:exon2:c.T88C:p.L30L exonic ENSG00000221826 NA synonymous SNV ENSG00000221826:ENST00000327495:exon2:c.T88C:p.L30L,ENSG00000221826:ENST00000595140:exon2:c.T88C:p.L30L NA NA 19q13.2 NA NA NA NA rs12185497 0.5 0.5 0.493 0.65655 0.5507 0.4762 0.6571 0.8911 0.6339 0.45 0.37 0.54 0.69 0.5895 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388844 NA NA 0.422674 0.775886 ID=COSM148646;OCCURENCE=1(stomach) NA NA 4.1037926 1242 19 44417575 44417575 A G exonic ZNF45 NA synonymous SNV ZNF45:NM_003425:exon10:c.T2013C:p.F671F exonic ENSG00000124459 NA synonymous SNV ENSG00000124459:ENST00000589703:exon4:c.T2013C:p.F671F,ENSG00000124459:ENST00000269973:exon10:c.T2013C:p.F671F NA NA 19q13.31 NA NA NA NA rs417699 0.59 0.59 0.56 0.541534 0.5149 0.8046 0.6585 0.388 0.4223 0.51 0.83 0.59 0.44 0.5431 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225987 NA NA 0.504884 0.399001 ID=COSM1179784;OCCURENCE=1(prostate) 0.522 NA 4.1037826 1242 3 124748226 124748226 G A exonic HEG1 NA synonymous SNV HEG1:NM_020733:exon2:c.C423T:p.G141G exonic ENSG00000173706 NA synonymous SNV ENSG00000173706:ENST00000311127:exon2:c.C423T:p.G141G NA NA 3q21.2 NA NA NA NA rs2860440 0.49 0.49 0.467 0.488818 0.5457 0.4792 0.4697 0.3775 0.6043 0.56 0.5 0.47 0.37 0.512 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333168 NA NA 0.505198 0.365664 ID=COSM1418564;OCCURENCE=1(large_intestine) 0.391 NA 4.1037686 1242 19 40325016 40325016 T C upstream;downstream DYRK1B;FBL NA NA NA upstream;downstream ENSG00000105204;ENSG00000105202 NA NA NA NA NA 19q13.2 NA Name=Mxi1_(bHLH),ZNF263,Nrf1 NA NA rs2072290 0.47 0.47 0.466 0.492412 0.5636 0.2212 0.4769 0.7141 0.41 0.55 0.18 0.46 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2119 NA NA NA NA NA 0.522 NA 4.1030666 1242 3 124738107 124738107 C T exonic HEG1 NA synonymous SNV HEG1:NM_020733:exon5:c.G1587A:p.S529S exonic ENSG00000173706 NA synonymous SNV ENSG00000173706:ENST00000311127:exon5:c.G1587A:p.S529S NA NA 3q21.2 NA NA NA NA rs59232004 0.49 0.49 0.466 0.492212 0.5437 0.4762 0.4669 0.3971 0.6022 0.56 0.5 0.46 0.38 0.5155 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034723 NA NA 0.504654 0.377184 NA 0.413 NA 4.1028126 1242 19 19971852 19971852 T G intergenic ZNF506,ZNF253 dist=39292;dist=4862 NA NA intergenic ENSG00000270325,ENSG00000256771 dist=3516;dist=4843 NA NA NA NA 19p13.11 NA Name=TAF7_(SQ-8),Pol2,TAF1 NA NA rs66624169 0.42 0.42 0.4 0.430112 0.2306 0.6359 0.3761 0.5106 0.3528 0.24 0.66 0.32 0.49 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084902 NA NA NA NA NA 0.377 NA 4.1027334 1242 16 81050817 81050817 T C intronic CENPN NA NA NA ncRNA_intronic ENSG00000260213 NA NA NA NA NA 16q23.2 NA NA NA NA rs9889194 0.31 0.31 0.315 0.29353 0.2306 0.4365 0.3329 0.2988 0.1759 0.23 0.44 0.33 0.28 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128701 NA NA NA NA NA 0.232 NA 4.1027333 1242 16 81051101 81051101 C T intronic CENPN NA NA NA ncRNA_intronic ENSG00000260213 NA NA NA NA NA 16q23.2 NA NA NA NA rs9888895 0.31 0.31 0.308 0.293131 0.2306 0.4365 0.3314 0.298 0.1759 0.23 0.44 0.33 0.28 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879104 NA NA NA NA NA 0.232 NA 4.1027333 1242 2 233245045 233245045 C T intronic ALPP NA NA NA ncRNA_intronic ENSG00000224516 NA NA NA NA NA 2q37.1 NA NA NA NA rs28733638 0.11 0.11 0.063 0.0730831 0.0726 0.1667 0.0447 0.0257 0.0613 0.09 0.21 0.07 0.05 0.0774 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237935 NA NA 0.081047 0.042669 NA 0.036 NA 4.1022863 1242 9 130210111 130210111 T C intronic RPL12 NA NA NA intronic ENSG00000197958 NA NA NA NA NA 9q33.3 NA Name=Pol2,Pol2(phosphoS2),JunD Name=60 NA rs1139400 0.59 0.59 0.558 0.571486 0.664 0.4226 0.6715 0.6097 0.5072 0.67 0.42 0.64 0.62 0.6139 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390617 NA NA 0.619884 0.646231 NA 0.587 NA 4.102216 1242 16 74670458 74670458 C T exonic RFWD3 NA synonymous SNV RFWD3:NM_018124:exon8:c.G1212A:p.T404T exonic ENSG00000168411 NA synonymous SNV ENSG00000168411:ENST00000361070:exon8:c.G1212A:p.T404T,ENSG00000168411:ENST00000571750:exon9:c.G1212A:p.T404T NA NA 16q23.1 NA NA NA NA rs4888262 0.63 0.63 0.65 0.657348 0.495 0.7877 0.4222 0.8094 0.6513 0.47 0.78 0.45 0.83 0.5508 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194636 NA NA 0.518837 0.752502 NA 0.638 NA 4.1020296 1242 13 111605161 111605161 G T intergenic ANKRD10,ARHGEF7 dist=37745;dist=162463 NA NA intergenic ENSG00000227105,ENSG00000225760 dist=13030;dist=30493 NA NA Score=333;Name=lod=30 NA 13q34 NA NA NA NA rs55812376 0.13 0.13 0.11 0.101637 0.2316 0.0218 0.1441 0.0772 0.0532 0.23 0.02 0.15 0.1 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546511 NA NA NA NA ID=COSN164560;OCCURENCE=1(breast) 0.101 NA 4.1017334 1242 1 161565479 161565479 G A intronic FCGR2C NA NA NA exonic ENSG00000244682 NA synonymous SNV ENSG00000244682:ENST00000543859:exon1:c.G135A:p.L45L NA NA 1q23.3 NA NA NA NA rs111504845 0.45 0.45 0.382 0.441893 0.331 0.62 0.5144 0.3298 0.4724 0.32 0.67 0.49 0.35 0.4006 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24702 NA NA NA NA NA 0.087 NA 4.1017333 1242 11 117691386 117691386 G A UTR3 FXYD2,FXYD6-FXYD2 NM_001680:c.*1C>T,NM_021603:c.*1C>T;NM_001204268:c.*1C>T,NM_001243598:c.*35C>T NA NA ncRNA_exonic ENSG00000254844 NA NA NA NA NA 11q23.3 NA NA NA NA rs869789 0.15 0.15 0.122 0.117412 0.1322 0.1895 0.1816 0.0741 0.0409 0.14 0.2 0.2 0.09 0.1319 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18131 NA NA 0.134777 0.092458 NA 0.101 NA 4.101123 1242 20 61528074 61528074 T C exonic DIDO1 NA synonymous SNV DIDO1:NM_001193369:exon7:c.A1863G:p.A621A,DIDO1:NM_001193370:exon7:c.A1863G:p.A621A,DIDO1:NM_033081:exon7:c.A1863G:p.A621A,DIDO1:NM_080797:exon7:c.A1863G:p.A621A exonic ENSG00000101191 NA synonymous SNV ENSG00000101191:ENST00000266070:exon7:c.A1863G:p.A621A,ENSG00000101191:ENST00000395335:exon7:c.A1863G:p.A621A,ENSG00000101191:ENST00000395340:exon7:c.A1863G:p.A621A,ENSG00000101191:ENST00000395343:exon7:c.A1863G:p.A621A NA NA 20q13.33 NA NA NA NA rs910149 0.64 0.64 0.642 0.673922 0.4801 0.6577 0.5836 0.9433 0.59 0.46 0.65 0.6 0.94 0.5701 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659375 NA NA 0.515581 0.860872 NA 0.674 NA 4.1008856 1242 4 108535335 108535335 C T UTR3 PAPSS1 NM_005443:c.*70G>A NA NA UTR3 ENSG00000138801 ENST00000265174:c.*70G>A NA NA NA NA 4q25 NA NA NA NA rs9569 0.24 0.24 0.223 0.192692 0.2326 0.3452 0.2565 0.0446 0.1493 0.24 0.38 0.25 0.07 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.277203 1.277203 NA NA NA NA 0.275 NA 4.1007334 1242 10 27538569 27538569 G A ncRNA_exonic LRRC37A6P NA NA NA ncRNA_exonic ENSG00000230445 NA NA NA NA NA 10p12.1 NA NA NA NA rs11015624 0.16 0.16 0.147 0.138179 0.1879 0.0149 0.2795 0.1861 0.0491 0.19 0.03 0.26 0.2 0.1783 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337419 NA NA 0.200189 0.184971 NA 0.239 NA 4.1002776 1242 7 32968136 32968136 G A ncRNA_intronic RP9P NA NA NA ncRNA_intronic ENSG00000205763 NA NA NA NA NA 7p14.3 NA NA NA NA rs4720085 0.39 0.39 0.354 0.356629 0.5666 0.2808 0.5476 0.1558 0.3548 0.57 0.31 0.52 0.11 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173524 NA NA NA NA ID=COSN168011;OCCURENCE=1(large_intestine) 0.37 NA 4.1000666 1242 7 32968346 32968346 G A ncRNA_intronic RP9P NA NA NA ncRNA_intronic ENSG00000205763 NA NA NA NA NA 7p14.3 NA NA NA NA rs2060731 0.39 0.39 0.36 0.359625 0.5666 0.2808 0.5504 0.1657 0.3548 0.57 0.31 0.52 0.12 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678283 NA NA NA NA NA 0.37 NA 4.1000666 1242 8 10390320 10390320 C T intronic PRSS55 NA NA NA ncRNA_intronic ENSG00000253649 NA NA NA NA NA 8p23.1 NA NA NA NA rs10106714 0.29 0.29 0.275 0.282947 0.2336 0.3185 0.2824 0.3374 0.2239 0.23 0.32 0.28 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057578 NA NA NA NA NA 0.268 NA 4.0997333 1242 19 4947056 4947056 C T intronic UHRF1 NA NA NA ncRNA_intronic ENSG00000034063 NA NA NA NA NA 19p13.3 NA NA NA NA rs12974635 0.15 0.15 0.16 0.165535 0.2336 0.0119 0.1758 0.2345 0.1534 0.21 0.01 0.17 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334538 NA NA NA NA NA 0.13 NA 4.0997333 1242 5 14420027 14420027 A C exonic TRIO NA synonymous SNV TRIO:NM_007118:exon34:c.A5100C:p.T1700T exonic ENSG00000038382 NA synonymous SNV ENSG00000038382:ENST00000513206:exon30:c.A4299C:p.T1433T,ENSG00000038382:ENST00000344204:exon34:c.A5100C:p.T1700T,ENSG00000038382:ENST00000512070:exon34:c.A4923C:p.T1641T,ENSG00000038382:ENST00000537187:exon34:c.A5100C:p.T1700T Score=514;Name=lod=164 NA 5p15.2 NA NA NA NA rs30612 0.85 0.85 0.856 0.81869 0.8757 0.6984 0.8271 0.9864 0.6513 0.87 0.72 0.82 0.98 0.8298 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443033 NA NA 0.861512 0.963232 NA 0.891 NA 4.0996546 1242 11 2016908 2016908 G A ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA NA NA NA rs217727 0.21 0.21 0.166 0.202077 0.1819 0.3194 0.2709 0.0711 0.2301 0.17 0.34 0.25 0.1 0.2 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521229 NA NA 0.185678 0.085714 NA 0.116 NA 4.0990886 1242 4 77033725 77033725 C A UTR3 ART3 NM_001130017:c.*53C>A,NM_001179:c.*53C>A,NM_001130016:c.*53C>A NA NA UTR3 ENSG00000156219 ENST00000341029:c.*53C>A,ENST00000349321:c.*53C>A,ENST00000355810:c.*53C>A NA NA NA NA 4q21.1 NA NA NA NA rs14773 0.41 0.41 0.416 0.432508 0.2346 0.5446 0.3847 0.562 0.3793 0.24 0.54 0.36 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.295178 2.295178 NA NA NA NA 0.333 NA 4.0987334 1242 20 44523547 44523547 G A intronic CTSA NA NA NA intronic ENSG00000064601 NA NA NA NA NA 20q13.12 Score=837;Name=V$EGR1_01 NA Name=4 NA rs2075961 0.66 0.66 0.651 0.678315 0.6233 0.7073 0.7478 0.6536 0.6892 0.65 0.69 0.7 0.61 0.6602 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111878 NA NA 0.618256 0.667499 NA 0.659 NA 4.098244 1242 11 56508032 56508032 G A intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA NA NA 11q12.1 NA NA NA NA rs11228757 0.31 0.31 0.251 0.342851 0.2356 0.619 0.4885 0.0189 0.5031 0.22 0.59 0.44 0.03 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116105 NA NA NA NA NA 0.261 NA 4.0977333 1242 14 76964926 76964926 C T intronic ESRRB NA NA NA ncRNA_intronic ENSG00000259124 NA NA NA NA NA 14q24.3 NA NA NA NA rs10139705 0.22 0.22 0.235 0.2498 0.2356 0.254 0.1816 0.1899 0.3896 0.23 0.26 0.17 0.2 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653115 NA NA NA NA NA 0.109 NA 4.0977333 1242 22 39441203 39441203 C T exonic APOBEC3F NA synonymous SNV APOBEC3F:NM_145298:exon3:c.C429T:p.R143R exonic ENSG00000128394 NA synonymous SNV ENSG00000128394:ENST00000308521:exon3:c.C429T:p.R143R NA NA 22q13.1 NA NA NA NA rs4821862 0.58 0.58 0.57 0.59345 0.492 0.7123 0.6427 0.5454 0.6053 0.47 0.7 0.67 0.54 0.545 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104979 NA NA 0.531977 0.544939 NA 0.558 NA 4.0976896 1242 19 51503653 51503653 T C intronic KLK8 NA NA NA ncRNA_intronic ENSG00000267879 NA NA NA NA NA 19q13.41 NA NA NA NA rs10410942 0.13 0.13 0.126 0.141374 0.0785 0.003 0.0965 0.3986 0.0327 0.08 0.0017 0.13 0.36 0.0888 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108952 NA NA 0.068372 0.347935 NA 0.159 NA 4.0976613 1242 3 49722356 49722356 G A intronic MST1 NA NA NA ncRNA_exonic ENSG00000259970 NA NA NA NA NA 3p21.31 NA NA NA NA rs9837520 0.24 0.24 0.22 NA NA NA NA NA NA 0.29 0.06 0.22 0.37 0.2357 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.68294 NA NA NA NA NA 0.058 NA 4.0976333 1242 11 89224453 89224453 A C UTR5 NOX4 NM_001143836:c.-39T>G,NM_016931:c.-39T>G NA NA UTR5 ENSG00000086991 ENST00000535633:c.-747T>G,ENST00000534731:c.-39T>G,ENST00000263317:c.-39T>G,ENST00000525196:c.-39T>G,ENST00000527626:c.-58452T>G,ENST00000529343:c.-39T>G,ENST00000393282:c.-39T>G NA NA NA NA 11q14.3 NA Name=TBP,TAF7_(SQ-8),YY1_(C-20) Name=92 NA rs2289125 0.55 0.55 0.477 0.54353 0.7813 0.5377 0.6297 0.1929 0.7178 0.77 0.52 0.62 0.2 0.6895 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865649 NA NA 0.764948 0.283333 NA 0.428 NA 4.0975854 1242 3 124746182 124746182 C A exonic HEG1 NA synonymous SNV HEG1:NM_020733:exon3:c.G780T:p.P260P exonic ENSG00000173706 NA synonymous SNV ENSG00000173706:ENST00000311127:exon3:c.G780T:p.P260P NA NA 3q21.2 NA NA NA NA rs2333041 0.51 0.51 0.49 0.513578 0.5457 0.4782 0.4755 0.469 0.6043 0.56 0.5 0.48 0.45 0.5178 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087866 NA NA 0.505898 0.447368 NA 0.428 NA 4.0972686 1242 6 56471995 56471995 C T ncRNA_intronic RNU6-71P NA NA NA exonic ENSG00000151914 NA synonymous SNV ENSG00000151914:ENST00000439203:exon26:c.G5820A:p.L1940L,ENSG00000151914:ENST00000446842:exon26:c.G5820A:p.L1940L,ENSG00000151914:ENST00000312431:exon36:c.G6798A:p.L2266L,ENSG00000151914:ENST00000361203:exon36:c.G6798A:p.L2266L,ENSG00000151914:ENST00000370769:exon36:c.G6798A:p.L2266L,ENSG00000151914:ENST00000370754:exon39:c.G7332A:p.L2444L NA NA 6p12.1 NA NA NA NA rs16888055 0.32 0.32 0.313 0.291534 0.3648 0.248 0.3545 0.2927 0.2147 0.35 0.24 0.36 0.32 0.3318 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163957 NA NA 0.372892 0.312261 NA 0.37 NA 4.0971746 1242 3 63466333 63466333 T C ncRNA_intronic SYNPR-AS1 NA NA NA ncRNA_intronic ENSG00000241359 NA NA NA NA NA 3p14.2 NA NA NA NA rs1451308 0.58 0.58 0.548 0.595647 0.5696 0.5486 0.6326 0.6717 0.5419 0.57 0.54 0.57 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129832 NA NA NA NA NA 0.63 NA 4.0970666 1242 10 5037914 5037914 G C intronic AKR1C2 NA NA NA ncRNA_intronic ENSG00000224251 NA NA NA NA NA 10p15.1 NA NA NA NA rs146951526 0.04 0.04 0.036 0.034345 0.0865 NA 0.0548 0.0136 0.0297 0.08 NA 0.06 0.02 0.0656 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300108 NA NA 0.08444 0.030427 NA NA NA 4.0967933 1242 1 55138673 55138673 C T ncRNA_intronic HEATR8-TTC4 NA NA NA intronic ENSG00000184313,ENSG00000271723 NA NA NA NA NA 1p32.3 NA NA NA NA rs564400 0.26 0.26 0.232 0.304113 0.2366 0.2946 0.2795 0.2564 0.4652 0.24 0.28 0.27 0.26 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292228 NA NA NA NA NA 0.333 NA 4.0967333 1242 6 169631994 169631994 C G intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs11966041 0.29 0.29 0.278 0.288139 0.2366 0.2569 0.2421 0.5265 0.0838 0.23 0.23 0.23 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568106 NA NA NA NA NA 0.261 NA 4.0967333 1242 7 47913459 47913459 T C intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA Name=67 NA rs62447062 0.31 0.31 0.327 0.346046 0.2932 0.0962 0.3516 0.5953 0.317 0.29 0.08 0.35 0.59 0.3241 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140591 NA NA 0.286163 0.554698 NA 0.312 NA 4.096537 1242 4 25507698 25507698 G A intergenic ANAPC4,SLC34A2 dist=87578;dist=149737 NA NA ncRNA_exonic ENSG00000248608 NA NA NA Score=762;Name=lod=1671 NA 4p15.2 NA NA NA NA rs6448365 0.82 0.82 0.825 0.810503 0.9036 0.7758 0.8501 0.7133 0.8538 0.9 0.77 0.87 0.7 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676552 NA NA NA NA NA 0.877 NA 4.0964 1242 1 26880989 26880989 T C intronic RPS6KA1 NA NA NA intronic ENSG00000117676 NA NA NA NA NA 1p36.11 NA NA Name=3 NA rs873151 0.43 0.43 0.417 0.459665 0.2843 0.7639 0.3487 0.3238 0.589 0.29 0.75 0.34 0.34 0.3569 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863351 NA NA 0.262414 0.294075 ID=COSN163014;OCCURENCE=1(breast) 0.326 NA 4.096386 1242 4 1369051 1369051 A C intronic UVSSA NA NA NA UTR5 ENSG00000163945 ENST00000512728:c.-160A>C NA NA NA NA 4p16.3 NA NA NA NA rs150398177 0.03 0.03 0.026 0.0225639 0.0716 NA 0.0303 0.0023 0.0174 0.07 NA 0.03 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130088 NA NA NA NA NA 0.007 NA 4.0950667 1242 8 125033678 125033678 G A ncRNA_intronic FER1L6-AS1 NA NA NA ncRNA_intronic ENSG00000181171 NA NA NA NA NA 8q24.13 NA NA NA NA rs7820272 0.45 0.45 0.462 0.419129 0.5716 0.4266 0.3415 0.3298 0.4305 0.56 0.42 0.41 0.35 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189862 NA NA NA NA NA 0.362 NA 4.0950666 1242 10 1070461 1070461 C T ncRNA_intronic IDI2-AS1 NA NA NA ncRNA_intronic ENSG00000232656 NA NA NA NA NA 10p15.3 NA NA NA NA rs3793777 0.55 0.55 0.571 0.545327 0.5716 0.4375 0.5317 0.671 0.4693 0.57 0.39 0.56 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391929 NA NA NA NA NA 0.609 NA 4.0950666 1243 2 89197190 89197190 C T intergenic MIR4436A,NONE dist=85222;dist=NONE NA NA exonic ENSG00000211599 NA nonsynonymous SNV ENSG00000211599:ENST00000390244:exon2:c.C235T:p.P79S NA NA 2p11.2 NA NA NA NA rs55661410 0.33 0.33 0.328 0.33107 0.2197 0.503 0.3314 0.2247 0.4121 0.22 0.59 0.31 0.21 0.2787 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.193274 2.193274 0.01 0.240389 0.223885 NA 0.174 NA 4.0945444 1243 1 186418600 186418600 C T ncRNA_UTR5 PDC NA NA NA UTR5 ENSG00000116703 ENST00000391997:c.-9G>A NA NA NA NA 1q31.1 NA NA NA NA rs12407957 0.17 0.17 0.178 0.203474 0.1203 0.0377 0.196 0.4433 0.1411 0.12 0.04 0.21 0.38 0.1472 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.023884 NA 1 0.13814 0.407172 NA 0.254 NA 4.09436 1243 19 3533274 3533274 G A intronic FZR1 NA NA NA intronic ENSG00000105325 NA NA NA NA NA 19p13.3 NA Name=Pol2(phosphoS2) NA NA rs740681 0.4 0.4 0.368 0.353435 0.2942 0.8016 0.4726 0.0151 0.3252 0.3 0.83 0.4 0.03 0.3405 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050208 NA NA 0.270993 0.062188 NA 0.29 NA 4.094307 1243 10 1068802 1068802 G A ncRNA_intronic IDI2-AS1 NA NA NA ncRNA_intronic ENSG00000232656 NA NA NA NA NA 10p15.3 NA NA NA NA rs3750729 0.55 0.55 0.54 0.545727 0.5726 0.4296 0.5403 0.6793 0.4611 0.57 0.39 0.56 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080081 NA NA NA NA NA 0.594 NA 4.0940666 1243 19 51994813 51994813 G T UTR3 SIGLEC12 NM_033329:c.*82C>A,NM_053003:c.*82C>A NA NA UTR3 ENSG00000254521 ENST00000596742:c.*1085C>A,ENST00000291707:c.*82C>A NA NA NA NA 19q13.41 NA NA NA NA rs16982733 0.21 0.21 0.196 0.204673 0.2396 0.1002 0.1729 0.3366 0.1207 0.23 0.09 0.19 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123668 NA NA NA NA NA 0.283 NA 4.0937334 1243 19 54742738 54742738 G C UTR3 LILRA6 NM_024318:c.*91C>G NA NA UTR3 ENSG00000244482 ENST00000430421:c.*869C>G,ENST00000396365:c.*91C>G NA NA NA NA 19q13.42 NA NA NA NA rs448461 0.29 0.29 0.277 0.26897 0.2396 0.5119 0.268 0.1248 0.2444 0.26 0.5 0.24 0.11 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701624 NA NA NA NA NA 0.225 NA 4.0937334 1243 8 52233276 52233276 C A intronic PXDNL NA NA NA ncRNA_intronic ENSG00000253664 NA NA NA NA NA 8q11.22 NA NA NA NA rs7827306 0.31 0.31 0.288 0.321086 0.2396 0.1429 0.2277 0.6346 0.2311 0.24 0.15 0.26 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318647 NA NA NA NA NA 0.312 NA 4.0937333 1243 19 6898487 6898487 G T intronic EMR1 NA NA NA ncRNA_intronic ENSG00000269385 NA NA NA NA NA 19p13.3 NA NA NA NA rs330882 0.41 0.41 0.44 0.436102 0.2396 0.4544 0.4193 0.6793 0.3027 0.23 0.48 0.37 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018427 NA NA NA NA NA 0.428 NA 4.0937333 1243 15 25436689 25436689 C T downstream SNORD115-10,SNORD115-12,SNORD115-5,SNORD115-9 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs140979701 0.01 0.01 0.007 0.0107827 0.0239 NA 0.0159 0.0015 0.0174 0.02 NA 0.02 0.002 0.0201 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363488 NA NA 0.029131 0.005734 NA 0.022 NA 4.0935356 1243 1 227172903 227172903 G A intronic ADCK3 NA NA NA intronic ENSG00000163050 NA NA NA NA NA 1q42.13 NA NA Name=4 NA rs2297415 0.3 0.3 0.322 0.269569 0.4414 0.1587 0.2853 0.2731 0.1912 0.44 0.15 0.31 0.25 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229791 NA NA 0.465522 0.295918 NA 0.355 NA 4.093078 1243 3 196051403 196051403 A G ncRNA_intronic TM4SF19-TCTEX1D2 NA NA NA ncRNA_exonic ENSG00000235897 NA NA NA NA NA 3q29 NA NA NA NA rs2280526 0.65 0.65 0.631 0.631789 0.5736 0.873 0.6023 0.441 0.7219 0.59 0.88 0.62 0.48 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487193 NA NA NA NA NA 0.58 NA 4.0930666 1243 2 112754828 112754828 G T intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA NA NA NA rs3811632 0.27 0.27 0.253 0.303914 0.3032 0.1062 0.3847 0.3578 0.3783 0.34 0.1 0.34 0.34 0.3197 0.34 0.1 T . . . . . . 1.000 P . . . . -0.972 T 0.000 T . -0.272 2.697 -0.384 0.107 0.207 1.192 -0.271843 NA 0 0.284279 0.344749 NA 0.304 NA 4.092821 1243 4 84216370 84216370 G A UTR3 HPSE NM_001098540:c.*127C>T,NM_001199830:c.*127C>T,NM_001166498:c.*127C>T,NM_006665:c.*127C>T NA NA UTR3 ENSG00000173083 ENST00000405413:c.*127C>T,ENST00000311412:c.*127C>T NA NA NA NA 4q21.23 NA NA NA NA rs6855404 0.21 0.21 0.182 0.229832 0.2406 0.1091 0.3084 0.2572 0.2505 0.25 0.1 0.26 0.24 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739613 NA NA NA NA NA NA NA 4.0927334 1243 11 71381158 71381158 T G intergenic KRTAP5-11,FAM86C1 dist=87237;dist=117399 NA NA ncRNA_exonic ENSG00000239481 NA NA NA Score=784;Name=lod=2055 NA 11q13.4 NA NA NA NA rs4245449 0.88 0.88 0.865 0.871605 0.9076 0.8383 0.9352 0.8033 0.9162 0.91 0.88 0.95 0.79 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304667 NA NA NA NA NA 0.304 NA 4.0924 1243 15 31712631 31712631 T C intergenic KLF13,OTUD7A dist=42529;dist=62698 NA NA ncRNA_exonic ENSG00000259179 NA NA NA Score=689;Name=lod=845 NA 15q13.3 NA NA NA NA rs4779873 0.96 0.96 0.956 0.96226 0.9076 1 0.9424 0.9947 0.9499 0.92 1 0.94 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436005 NA NA NA NA NA 0.913 NA 4.0924 1243 16 27456613 27456613 G C intronic IL21R NA NA NA intronic ENSG00000103522 NA NA NA NA NA 16p12.1 Score=889;Name=V$ARP1_01 NA NA NA rs963154 0.3 0.3 0.295 0.273163 0.3121 0.0992 0.2954 0.4955 0.0961 0.32 0.1 0.29 0.51 0.2894 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308504 NA NA 0.306279 0.469731 NA 0.268 NA 4.092221 1243 3 9952706 9952706 A G exonic IL17RE NA synonymous SNV IL17RE:NM_001193380:exon9:c.A960G:p.T320T,IL17RE:NM_153480:exon9:c.A960G:p.T320T,IL17RE:NM_153483:exon10:c.A1080G:p.T360T exonic ENSG00000163701 NA synonymous SNV ENSG00000163701:ENST00000383814:exon9:c.A960G:p.T320T,ENSG00000163701:ENST00000454190:exon9:c.A960G:p.T320T,ENSG00000163701:ENST00000295980:exon10:c.A960G:p.T320T,ENSG00000163701:ENST00000421412:exon10:c.A1059G:p.T353T NA NA 3p25.3 NA NA NA NA rs279572 0.43 0.43 0.431 0.426917 0.5527 0.0942 0.4683 0.6384 0.3252 0.55 0.07 0.47 0.65 0.4842 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218924 NA NA 0.537674 0.620291 NA 0.341 NA 4.0920926 1243 19 49962892 49962892 G A intronic ALDH16A1 NA NA NA intronic ENSG00000161618 NA NA NA NA NA 19q13.33 NA Name=YY1_(C-20),SIX5 NA NA rs62128062 0.2 0.2 0.213 0.170927 0.3191 0.005 0.2032 0.2163 0.1053 0.32 0.01 0.23 0.23 0.2567 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912237 NA NA 0.332287 0.206764 NA 0.239 NA 4.091913 1243 4 84216368 84216368 C G UTR3 HPSE NM_001098540:c.*129G>C,NM_001199830:c.*129G>C,NM_001166498:c.*129G>C,NM_006665:c.*129G>C NA NA UTR3 ENSG00000173083 ENST00000405413:c.*129G>C,ENST00000311412:c.*129G>C NA NA NA NA 4q21.23 NA NA NA NA rs6856901 0.23 0.23 0.211 0.255791 0.2416 0.1091 0.3112 0.3533 0.2505 0.25 0.1 0.26 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748659 NA NA NA NA NA 0.036 NA 4.0917334 1243 2 70915320 70915320 T A intronic ADD2 NA NA NA ncRNA_intronic ENSG00000235035 NA NA NA NA NA 2p13.3 NA NA NA NA rs7340254 0.33 0.33 NA 0.316494 0.2416 0.3909 0.232 0.3918 0.2751 0.25 0.38 0.29 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.088852 2.088852 NA NA NA NA 0.377 NA 4.0917333 1243 3 120114637 120114637 C T UTR3 FSTL1 NM_007085:c.*1162G>A NA NA UTR3 ENSG00000163430 ENST00000295633:c.*1162G>A NA NA NA NA 3q13.33 NA NA NA NA rs1700 0.08 0.08 0.087 0.0848642 0.1292 0.005 0.0778 0.1029 0.1022 0.11 0.0035 0.09 0.12 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298153 1.298153 NA 0.112822 0.111272 NA 0.101 NA 4.0913114 1243 20 31598781 31598781 T C intronic BPIFB2 NA NA NA intronic ENSG00000078898 NA NA NA NA NA 20q11.21 NA Name=ZNF263 NA NA rs6120085 0.23 0.23 0.221 0.240815 0.328 0.1181 0.304 0.1846 0.3088 0.33 0.11 0.3 0.18 0.2869 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231547 NA NA 0.293837 0.211076 NA 0.333 NA 4.091263 1243 7 6874648 6874648 G C intergenic CCZ1B,LOC100131257 dist=8722;dist=240753 NA NA intergenic ENSG00000146574,ENSG00000155070 dist=8247;dist=20468 NA NA Score=352;Name=lod=36 NA 7p22.1 NA NA NA NA rs13233326 0.23 0.23 0.194 0.258986 0.2425 0.254 0.2176 0.2617 0.3067 0.22 0.21 0.21 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165747 NA NA NA NA NA 0.188 NA 4.0908334 1243 3 183818511 183818511 A G intronic HTR3E NA NA NA ncRNA_intronic ENSG00000238020 NA NA NA NA NA 3q27.1 NA NA NA NA rs55683908 0.2 0.2 0.185 0.220248 0.2425 0.2411 0.3012 0.0787 0.3098 0.24 0.24 0.25 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256956 NA NA NA NA NA 0.138 NA 4.0908333 1243 X 16709626 16709626 G A intronic CTPS2 NA NA NA intronic ENSG00000047230 NA NA NA NA NA Xp22.2 NA NA Name=2 NA rs5980322 0.56 0.56 0.55087 NA NA NA NA NA NA 0.42 0.43 0.56 0.92 0.4823 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050764 NA NA 0.427021 0.849283 NA 0.399 NA 4.090679 1243 3 16343092 16343092 T G intronic OXNAD1 NA NA NA intronic ENSG00000154814 NA NA NA NA NA 3p25.1 NA Name=Max Name=7 NA rs842283 0.69 0.69 0.694 0.715056 0.6322 0.6677 0.6427 0.8661 0.6963 0.62 0.71 0.64 0.83 0.6539 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.652822 1.652822 NA 0.623256 0.840218 NA 0.696 NA 4.090644 1243 14 107099715 107099715 C T intergenic LINC00221,NONE dist=148186;dist=NONE NA NA upstream ENSG00000253132 NA NA NA Score=265;Name=lod=16 NA 14q32.33 NA NA NA NA rs10467897 0.48 0.48 0.432 0.575679 0.4095 0.5327 0.4496 0.705 0.7055 0.39 0.46 0.47 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.887519 2.887519 NA NA NA ID=COSN393189;OCCURENCE=1(lung) 0.022 NA 4.0905 1243 8 126445544 126445544 C A intronic TRIB1 NA NA NA intronic ENSG00000173334 NA NA NA NA NA 8q24.13 NA NA Name=7 NA rs2235109 0.44 0.44 0.471 0.503594 0.2714 0.6538 0.2896 0.6104 0.5951 0.26 0.63 0.28 0.6 0.3734 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.524483 1.524483 NA 0.264767 0.575352 NA 0.457 NA 4.090433 1243 22 30125596 30125596 C T UTR3 CABP7 NM_182527:c.*38C>T NA NA UTR3 ENSG00000100314 ENST00000216144:c.*38C>T NA NA NA NA 22q12.2 NA NA NA NA rs5997507 0.07 0.07 0.069 0.0936502 0.0696 0.0198 0.1066 0.1407 0.1217 0.08 0.02 0.09 0.11 0.0944 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258112 NA NA 0.079302 0.126192 NA 0.058 NA 4.0900314 1243 15 87531281 87531281 A C exonic AGBL1 NA synonymous SNV AGBL1:NM_152336:exon23:c.A3147C:p.T1049T exonic ENSG00000166748 NA synonymous SNV ENSG00000166748:ENST00000389298:exon16:c.A2340C:p.T780T,ENSG00000166748:ENST00000421325:exon22:c.A3147C:p.T1049T,ENSG00000166748:ENST00000441037:exon23:c.A3147C:p.T1049T NA NA 15q25.3 NA Name=USF-1 NA NA rs1006030 0.82 0.82 0.822 0.820687 0.8579 0.9187 0.7622 0.652 0.9509 0.86 0.91 0.78 0.7 0.858 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238893 NA NA 0.8609 0.685484 NA 0.688 NA 4.0898666 1243 1 171679958 171679958 G A intronic VAMP4 NA NA NA intronic ENSG00000117533 NA NA NA Score=660;Name=lod=641 NA 1q24.3 NA NA NA NA rs10913530 0.36 0.36 0.35 0.351038 0.2883 0.3829 0.2695 0.5083 0.228 0.27 0.36 0.27 0.55 0.3141 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243285 NA NA 0.307818 0.469133 NA 0.384 NA 4.089782 1243 10 50374819 50374819 T C intronic C10orf128 NA NA NA exonic ENSG00000204161 NA synonymous SNV ENSG00000204161:ENST00000374156:exon3:c.A396G:p.Q132Q NA NA 10q11.23 NA NA NA NA rs9418839 0.36 0.36 0.333 0.390974 0.3519 0.4018 0.3674 0.3676 0.4683 0.36 0.35 0.3 0.41 0.3917 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011601 NA NA NA NA NA 0.297 NA 4.0897333 1243 11 27412535 27412535 C T intronic LGR4 NA NA NA intronic ENSG00000205213 NA NA NA NA NA 11p14.1 NA NA Name=69 NA rs12273521 0.83 0.83 0.803 0.819489 0.9105 0.9028 0.8948 0.5363 0.9693 0.91 0.92 0.86 0.57 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143997 NA NA NA NA NA 0.775 NA 4.0895 1243 7 20685508 20685508 T G intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA Score=493;Name=lod=134 NA 7p21.1 NA NA NA NA rs11983326 0.3 0.3 0.3 0.322284 0.2992 0.1905 0.3055 0.4675 0.2975 0.3 0.19 0.3 0.43 0.3132 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.59487 1.59487 NA 0.299553 0.470344 NA 0.297 NA 4.088047 1243 17 8141324 8141324 T C intronic CTC1 NA NA NA intronic ENSG00000178971 NA NA NA NA NA 17p13.1 NA Name=CTCF NA NA rs11655903 0.32 0.32 0.286 0.285942 0.2992 0.3313 0.4798 0.1815 0.229 0.3 0.4 0.43 0.17 0.308 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744754 NA NA 0.30506 0.184865 NA 0.225 NA 4.08774 1243 12 54651471 54651471 A G UTR5 CBX5 NM_001127322:c.-37T>C,NM_001127321:c.-37T>C,NM_012117:c.-37T>C NA NA UTR5 ENSG00000094916 ENST00000209875:c.-37T>C,ENST00000439541:c.-37T>C,ENST00000550411:c.-37T>C,ENST00000552562:c.-37T>C NA NA Score=692;Name=lod=864 NA 12q13.13 NA NA NA NA rs1140681 0.55 0.55 0.558 0.579872 0.3897 0.496 0.5115 0.8003 0.6125 0.39 0.55 0.52 0.82 0.4707 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.60609 1.60609 NA 0.385233 0.756922 NA 0.529 NA 4.0877004 1243 11 64622869 64622869 G C exonic EHD1 NA synonymous SNV EHD1:NM_006795:exon4:c.C1005G:p.L335L exonic ENSG00000110047 NA synonymous SNV ENSG00000110047:ENST00000320631:exon4:c.C1005G:p.L335L,ENSG00000110047:ENST00000421510:exon4:c.C597G:p.L199L,ENSG00000110047:ENST00000433803:exon5:c.C1047G:p.L349L,ENSG00000110047:ENST00000359393:exon6:c.C1005G:p.L335L Score=631;Name=lod=489 NA 11q13.1 NA NA NA NA rs10897533 0.7 0.7 0.674 0.696086 0.8797 0.5625 0.8256 0.5076 0.8078 0.89 0.55 0.81 0.49 0.8206 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112168 NA NA 0.878753 0.585643 NA 0.768 NA 4.0876136 1243 13 44411410 44411410 G A UTR3 CCDC122 NM_144974:c.*6C>T NA NA UTR3 ENSG00000151773 ENST00000444614:c.*6C>T NA NA NA NA 13q14.11 NA NA NA NA rs66964055 0.06 0.06 0.064 0.0615016 0.0885 NA 0.0764 0.1036 0.0297 0.08 NA 0.07 0.12 0.0678 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.866815 NA NA 0.08943 0.106069 NA 0.065 NA 4.0876034 1243 5 14711275 14711275 T C UTR3 ANKH NM_054027:c.*31A>G NA NA UTR3 ENSG00000154122 ENST00000535119:c.*31A>G,ENST00000284268:c.*31A>G NA NA NA NA 5p15.2 NA NA NA NA rs3045 0.06 0.06 0.065 0.0577077 0.0855 NA 0.0533 0.115 0.0143 0.08 NA 0.04 0.1 0.0703 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.87172 2.87172 NA 0.09 0.111212 NA 0.145 NA 4.0875334 1243 1 15844615 15844615 A G exonic CASP9 NA synonymous SNV CASP9:NM_001229:exon2:c.T408C:p.F136F,CASP9:NM_032996:exon2:c.T159C:p.F53F exonic ENSG00000132906 NA synonymous SNV ENSG00000132906:ENST00000333868:exon2:c.T408C:p.F136F,ENSG00000132906:ENST00000348549:exon2:c.T408C:p.F136F,ENSG00000132906:ENST00000375890:exon2:c.T159C:p.F53F,ENSG00000132906:ENST00000440484:exon2:c.T408C:p.F136F,ENSG00000132906:ENST00000447522:exon2:c.T159C:p.F53F,ENSG00000132906:ENST00000546424:exon2:c.T408C:p.F136F NA NA 1p36.21 NA NA NA NA rs1132312 0.6 0.6 0.608 0.584864 0.5149 0.6538 0.4986 0.739 0.4387 0.54 0.63 0.5 0.74 0.5365 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.271714 NA NA 0.52814 0.703359 ID=COSM146414;OCCURENCE=1(stomach) 0.449 NA 4.0871266 1243 2 170550839 170550839 A G UTR5 CCDC173 NM_001085447:c.-2T>C NA NA UTR5 ENSG00000154479 ENST00000447353:c.-2T>C,ENST00000421028:c.-19292T>C NA NA NA NA 2q31.1 NA Name=HMGN3,GABP,ELK4,FOXA1_(C-20),E2F4,FOSL2,eGFP-JunD,KAP1,Sin3Ak-20,BRCA1_(C-1863),HA-E2F1,Mxi1_(bHLH),RFX5_(N-494),Pol2,Rad21,ELF1_(SC-631),Max,TBP,CTCF NA NA rs3820952 0.35 0.35 0.351 0.34984 0.4195 0.2093 0.281 0.4312 0.362 0.42 0.19 0.33 0.43 0.3914 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.559722 1.559722 NA 0.435383 0.420151 NA 0.42 NA 4.0870504 1243 19 41271104 41271104 T C UTR3 SNRPA NM_004596:c.*32T>C NA NA UTR3 ENSG00000077312 ENST00000243563:c.*32T>C NA NA NA NA 19q13.2 NA NA NA NA rs13108 0.16 0.16 0.134 0.146565 0.0726 0.2073 0.0706 0.2632 0.0562 0.07 0.23 0.09 0.26 0.1079 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320745 NA NA 0.066512 0.217885 NA 0.13 NA 4.0863214 1243 15 83334419 83334419 T C ncRNA_intronic LOC283692 NA NA NA ncRNA_intronic ENSG00000259462 NA NA NA NA NA 15q25.2 NA NA NA NA rs7494860 0.53 0.53 0.498 0.503395 0.5805 0.5337 0.598 0.3623 0.5164 0.57 0.55 0.59 0.4 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820379 NA NA NA NA ID=COSN165014;OCCURENCE=1(breast) 0.558 NA 4.0861666 1243 6 160199687 160199687 T C UTR3 TCP1 NM_001008897:c.*390A>G,NM_030752:c.*390A>G NA NA UTR3 ENSG00000120438 ENST00000321394:c.*390A>G NA NA NA NA 6q25.3 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),Pol2,FOXA1_(C-20),Pol2-4H8 Name=5 NA rs15982 0.67 0.67 0.63 0.679313 0.7565 0.5903 0.8314 0.5348 0.7791 0.76 0.57 0.82 0.54 0.7416 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.701744 1.701744 NA 0.74907 0.553563 NA 0.529 NA 4.0861634 1243 20 45891189 45891189 T C intronic ZMYND8 NA NA NA intronic ENSG00000101040 NA NA NA NA NA 20q13.12 NA Name=YY1 NA NA rs2294560 0.25 0.25 0.241 0.199081 0.3211 0.2321 0.2305 0.1362 0.1022 0.33 0.23 0.26 0.12 0.2725 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370716 NA NA 0.320465 0.163187 ID=COSN166551;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.326 NA 4.085935 1243 3 64553963 64553963 T C intronic ADAMTS9 NA NA NA ncRNA_intronic ENSG00000241158 NA NA NA NA NA 3p14.1 NA NA NA NA rs9836795 0.14 0.14 0.122 0.0992412 0.2475 NA 0.1571 0.0499 0.0746 0.25 NA 0.21 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238822 NA NA NA NA NA 0.174 NA 4.0858333 1243 2 128409338 128409338 C A UTR3 GPR17 NM_001161415:c.*9C>A,NM_005291:c.*9C>A,NM_001161417:c.*9C>A,NM_001161416:c.*9C>A NA NA UTR3 ENSG00000144230 ENST00000544369:c.*9C>A,ENST00000272644:c.*9C>A NA NA NA NA 2q14.3 NA NA NA NA rs34415489 0.08 0.08 NA 0.129193 0.1093 0.1171 0.0908 0.0295 0.3241 0.1 0.12 0.07 0.03 0.1385 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138896 NA NA NA NA NA NA NA 4.0855334 1243 11 3439475 3439475 A G intergenic LOC650368,TRPC2 dist=9097;dist=208215 NA NA ncRNA_exonic ENSG00000166492 NA NA NA Score=340;Name=lod=32 NA 11p15.4 NA NA NA NA rs10767027 0.81 0.81 0.892 0.882987 0.9145 0.997 0.8847 0.7481 0.9141 0.82 0.92 0.81 0.66 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125128 NA NA NA NA NA 0.196 NA 4.0855 1243 2 128409337 128409337 G C UTR3 GPR17 NM_001161415:c.*8G>C,NM_005291:c.*8G>C,NM_001161417:c.*8G>C,NM_001161416:c.*8G>C NA NA UTR3 ENSG00000144230 ENST00000544369:c.*8G>C,ENST00000272644:c.*8G>C NA NA NA NA 2q14.3 NA NA NA NA rs35201354 0.08 0.08 NA 0.129193 0.1093 0.1171 0.0908 0.0295 0.3241 0.1 0.12 0.07 0.03 0.1386 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738015 NA NA NA NA NA NA NA 4.0854334 1243 2 38916906 38916906 T C intronic GALM NA NA NA intronic ENSG00000143891 NA NA NA NA NA 2p22.1 NA Name=MafF_(M8194) NA NA rs11687518 0.21 0.21 0.183 0.202276 0.3121 0.1875 0.2968 0.0477 0.2464 0.3 0.15 0.29 0.06 0.2877 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350622 NA NA 0.314884 0.107581 NA 0.355 NA 4.085316 1243 14 103931879 103931879 A G intronic MARK3 NA NA NA intronic ENSG00000075413 NA NA NA Score=558;Name=lod=246 NA 14q32.32 NA NA NA NA rs1116095 0.37 0.37 0.362 0.420927 0.2922 0.4762 0.3602 0.4387 0.5153 0.28 0.48 0.31 0.43 0.3505 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.805903 2.805903 NA 0.272126 0.415296 NA 0.406 NA 4.085174 1244 19 58929222 58929222 G A UTR3 ZNF584 NM_173548:c.*71G>A NA NA UTR3 ENSG00000171574 ENST00000306910:c.*71G>A,ENST00000593920:c.*71G>A,ENST00000599238:c.*1068G>A NA NA NA NA 19q13.43 NA NA NA NA rs3764532 0.15 0.15 0.165 0.146565 0.2485 0.0546 0.1744 0.1059 0.1718 0.23 0.06 0.18 0.12 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416808 NA NA NA NA NA 0.174 NA 4.0848334 1244 22 37578807 37578807 G A intronic C1QTNF6 NA NA NA exonic ENSG00000133466 NA synonymous SNV ENSG00000133466:ENST00000255836:exon1:c.C39T:p.S13S NA NA 22q12.3 NA NA NA NA rs229520 0.35 0.35 0.343 0.341054 0.2137 0.4643 0.2003 0.5015 0.228 0.22 0.5 0.21 0.48 0.3612 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212786 NA NA 0.174341 0.37973 NA 0.37 NA 4.0840923 1244 6 116263524 116263524 G A UTR3 FRK NM_002031:c.*53C>T NA NA UTR3 ENSG00000111816 ENST00000606080:c.*53C>T NA NA NA NA 6q22.1 NA NA NA NA rs12208531 0.12 0.12 0.118 0.086262 0.2495 0.005 0.1916 0.0166 0.0215 0.23 0.01 0.23 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.939343 NA NA NA NA NA 0.152 NA 4.0838334 1244 19 55512137 55512137 C A exonic NLRP2 NA synonymous SNV NLRP2:NM_001174082:exon12:c.C2994A:p.I998I,NLRP2:NM_001174081:exon13:c.C3060A:p.I1020I,NLRP2:NM_017852:exon13:c.C3060A:p.I1020I,NLRP2:NM_001174083:exon14:c.C2991A:p.I997I exonic ENSG00000022556 NA synonymous SNV ENSG00000022556:ENST00000339757:exon12:c.C2994A:p.I998I,ENSG00000022556:ENST00000391721:exon12:c.C2988A:p.I996I,ENSG00000022556:ENST00000537859:exon12:c.C2994A:p.I998I,ENSG00000022556:ENST00000538819:exon12:c.C2988A:p.I996I,ENSG00000022556:ENST00000263437:exon13:c.C3051A:p.I1017I,ENSG00000022556:ENST00000448584:exon13:c.C3060A:p.I1020I,ENSG00000022556:ENST00000543010:exon13:c.C3060A:p.I1020I,ENSG00000022556:ENST00000427260:exon14:c.C2991A:p.I997I NA NA 19q13.42 NA NA NA NA rs12768 0.56 0.56 0.55 0.550519 0.495 0.6815 0.6686 0.4486 0.5266 0.48 0.72 0.58 0.47 0.5568 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305378 NA NA 0.531279 0.463913 NA 0.594 NA 4.0835876 1244 17 6546259 6546259 T C intronic TXNDC17 NA NA NA intronic ENSG00000129235 NA NA NA Score=589;Name=lod=331 NA 17p13.1 NA Name=CEBPB NA NA rs2285999 0.71 0.71 0.709 0.716054 0.6531 0.6448 0.6081 0.9251 0.6483 0.67 0.69 0.59 0.9 0.6402 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074052 NA NA 0.62314 0.861325 NA 0.754 NA 4.08356 1244 2 47693959 47693959 G A intronic MSH2 NA NA NA intronic ENSG00000095002 NA NA NA NA NA 2p21 NA NA NA NA rs3732183 0.47 0.47 0.49 0.483427 0.3012 0.6548 0.3242 0.6725 0.3517 0.31 0.61 0.3 0.67 0.3501 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387367 NA NA 0.265759 0.599318 NA 0.391 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp|mult|single;CLNACC=RCV000030241.2|RCV000035358.2|RCV000132147.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|.|C0027672 4.082941 1244 13 113536467 113536467 G A UTR3 ATP11A NM_015205:c.*287G>A,NM_032189:c.*89G>A NA NA UTR3 ENSG00000068650 ENST00000375645:c.*287G>A,ENST00000375630:c.*89G>A,ENST00000487903:c.*350G>A,ENST00000471555:c.*768G>A,ENST00000419631:c.*89G>A,ENST00000415301:c.*289G>A NA NA NA NA 13q34 NA NA NA NA rs36048052 0.15 0.15 0.116 0.146366 0.2505 0.0357 0.281 0.0893 0.135 0.22 0.03 0.25 0.1 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144871 NA NA NA NA NA 0.101 NA 4.0828334 1244 15 25331556 25331556 A G upstream;downstream SNORD116-17,SNORD116-19;SNORD116-18 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs4371131 0.14 0.14 0.161 0.171526 0.0845 0.002 0.0865 0.4992 0.0532 0.08 0.0017 0.07 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501775 NA NA NA NA NA 0.138 NA 4.0821666 1244 10 135351362 135351362 T C exonic CYP2E1 NA synonymous SNV CYP2E1:NM_000773:exon8:c.T1263C:p.F421F exonic ENSG00000130649 NA synonymous SNV ENSG00000130649:ENST00000418356:exon6:c.T852C:p.F284F,ENSG00000130649:ENST00000421586:exon7:c.T1002C:p.F334F,ENSG00000130649:ENST00000252945:exon8:c.T1263C:p.F421F,ENSG00000130649:ENST00000463117:exon10:c.T1263C:p.F421F Score=389;Name=lod=51 NA 10q26.3 NA NA NA NA rs2515641 0.73 0.73 0.698 0.700879 0.8718 0.7946 0.8213 0.3389 0.8323 0.88 0.81 0.82 0.34 0.8302 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.901559 NA NA 0.882674 0.397186 NA 0.739 NA 4.0819926 1244 19 10748820 10748820 T C intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA Name=Egr-1 Name=4 NA rs3859514 0.65 0.65 0.624 0.677716 0.5964 0.6538 0.7666 0.7421 0.636 0.6 0.61 0.73 0.73 0.6758 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523348 NA NA 0.646279 0.721062 NA 0.587 NA 4.081521 1244 1 235715523 235715523 A G exonic GNG4 NA synonymous SNV GNG4:NM_004485:exon3:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_001098722:exon4:c.T114C:p.A38A exonic ENSG00000168243 NA synonymous SNV ENSG00000168243:ENST00000366597:exon3:c.T114C:p.A38A,ENSG00000168243:ENST00000366598:exon3:c.T114C:p.A38A,ENSG00000168243:ENST00000391854:exon4:c.T114C:p.A38A,ENSG00000168243:ENST00000450593:exon4:c.T114C:p.A38A NA NA 1q42.3 NA NA NA NA rs14326 0.62 0.62 0.576 0.63119 0.495 0.8383 0.6599 0.5893 0.5941 0.51 0.81 0.6 0.58 0.5815 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937828 NA NA 0.508837 0.598275 NA 0.725 NA 4.0813296 1244 13 28403109 28403109 C T intergenic GSX1,PDX1 dist=35020;dist=91059 NA NA downstream ENSG00000207330 NA NA NA Score=646;Name=lod=562 NA 13q12.2 NA NA NA NA rs1891950 0.45 0.45 0.396 0.470847 0.4195 0.5546 0.6023 0.3011 0.5736 0.41 0.56 0.55 0.31 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.385152 1.385152 NA NA NA NA 0.377 NA 4.0805 1244 19 14817548 14817548 T A exonic ZNF333 NA synonymous SNV ZNF333:NM_032433:exon7:c.T474A:p.T158T exonic ENSG00000160961 NA nonsynonymous SNV ENSG00000160961:ENST00000601134:exon5:c.T295A:p.S99T NA NA 19p13.12 NA NA NA NA rs6511961 0.76 0.76 0.777 0.829473 0.6223 0.8889 0.7046 0.9675 0.8834 0.64 0.85 0.65 0.94 0.695 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150459 NA NA 0.602674 0.908534 NA 0.725 NA 4.080026 1244 3 100170553 100170553 G A intronic LNP1 NA NA NA exonic ENSG00000206535 NA synonymous SNV ENSG00000206535:ENST00000489752:exon3:c.G186A:p.L62L NA NA 3q12.2 NA NA NA NA rs7641299 0.16 0.16 0.175 0.14976 0.2624 0.131 0.134 0.0333 0.2219 0.27 0.15 0.14 0.04 0.2307 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.312745 1.312745 NA 0.260215 0.070655 NA 0.203 NA 4.0800183 1244 9 139324029 139324029 C T UTR3 INPP5E NM_019892:c.*98G>A NA NA UTR3 ENSG00000148384 ENST00000371712:c.*98G>A NA NA NA NA 9q34.3 NA NA NA NA rs35873563 0.16 0.16 0.162 0.148363 0.2535 0.0427 0.3026 0.0408 0.1851 0.27 0.06 0.26 0.05 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220259 NA NA NA NA NA 0.13 NA 4.0798334 1244 4 88261828 88261828 A C intronic HSD17B11 NA NA NA ncRNA_intronic ENSG00000255723 NA NA NA NA NA 4q22.1 NA NA NA NA rs7679024 0.17 0.17 0.147 0.165136 0.2535 0.0923 0.3069 0.0189 0.2464 0.26 0.1 0.27 0.03 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253522 NA NA NA NA NA 0.109 NA 4.0798333 1244 5 162910438 162910438 G A intronic HMMR NA NA NA ncRNA_intronic ENSG00000251018 NA NA NA NA NA 5q34 NA NA NA NA rs299308 0.19 0.19 0.177 0.208666 0.2535 0.0724 0.1772 0.2678 0.2454 0.25 0.05 0.2 0.24 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229685 NA NA NA NA NA 0.225 NA 4.0798333 1244 14 88737193 88737193 T C UTR5 KCNK10 NM_138318:c.-60A>G NA NA UTR5 ENSG00000100433 ENST00000312350:c.-60A>G NA NA NA NA 14q31.3 NA NA Name=4 NA rs1298237 0.76 0.76 0.755 0.751797 0.6342 0.9236 0.7435 0.7262 0.7362 0.65 0.94 0.77 0.71 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033887 NA NA 0.619422 0.67052 NA 0.652 NA 4.0797114 1244 2 36704144 36704144 C T exonic CRIM1 NA synonymous SNV CRIM1:NM_016441:exon6:c.C1104T:p.T368T exonic ENSG00000150938 NA synonymous SNV ENSG00000150938:ENST00000280527:exon6:c.C1104T:p.T368T NA NA 2p22.2 NA NA NA NA rs848547 0.6 0.6 0.57 0.613618 0.499 0.6766 0.7378 0.5045 0.726 0.5 0.71 0.71 0.54 0.5731 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.389574 1.389574 NA 0.514884 0.517476 NA 0.674 NA 4.0796826 1244 11 10506259 10506259 A G intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs7128132 0.94 0.94 0.951 0.944289 0.9205 0.9563 0.964 0.9372 0.9519 0.92 0.97 0.95 0.93 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825089 NA NA NA NA NA 0.957 NA 4.0795 1244 10 45423282 45423282 C G ncRNA_intronic TMEM72-AS1 NA NA NA ncRNA_intronic ENSG00000224812 NA NA NA NA NA 10q11.21 NA NA NA NA rs10900131 0.45 0.45 0.418 0.432308 0.5875 0.3214 0.6037 0.3623 0.3599 0.58 0.27 0.61 0.35 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417918 NA NA NA NA ID=COSN163639;OCCURENCE=1(NS) 0.486 NA 4.0791666 1244 22 30766179 30766179 C T ncRNA_exonic KIAA1656 NA NA NA intronic ENSG00000187860 NA NA NA NA NA 22q12.2 NA NA NA NA rs7287908 0.17 0.17 0.188 0.153355 0.2545 0.1458 0.1571 0.1324 0.0828 0.24 0.12 0.16 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341172 NA NA NA NA NA 0.275 NA 4.0788333 1244 22 30767536 30767536 T G ncRNA_exonic KIAA1656 NA NA NA intronic ENSG00000187860 NA NA NA NA NA 22q12.2 NA NA NA NA rs11705092 0.17 0.17 0.157 0.153554 0.2545 0.1458 0.1571 0.1331 0.0828 0.24 0.12 0.16 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389567 NA NA NA NA NA 0.268 NA 4.0788333 1244 22 30767781 30767781 C T ncRNA_exonic KIAA1656 NA NA NA intronic ENSG00000187860 NA NA NA NA NA 22q12.2 NA NA NA NA rs1076299 0.17 0.17 0.17 0.153355 0.2545 0.1458 0.1571 0.1324 0.0828 0.24 0.12 0.16 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422717 NA NA NA NA NA 0.275 NA 4.0788333 1244 14 21631557 21631557 A G intergenic OR5AU1,LINC00641 dist=7373;dist=36681 NA NA ncRNA_exonic ENSG00000259102 NA NA NA Score=795;Name=lod=2266 NA 14q11.2 NA NA NA NA rs10138782 0.92 0.92 0.914 0.921725 0.9215 0.9524 0.9539 0.8638 0.9458 0.92 0.96 0.95 0.87 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355479 NA NA NA NA NA 0.928 NA 4.0785 1244 16 81077915 81077915 T C exonic ATMIN NA synonymous SNV ATMIN:NM_015251:exon4:c.T1812C:p.A604A exonic ENSG00000166454 NA synonymous SNV ENSG00000166454:ENST00000566488:exon3:c.T1344C:p.A448A,ENSG00000166454:ENST00000299575:exon4:c.T1812C:p.A604A,ENSG00000166454:ENST00000564241:exon4:c.T1344C:p.A448A Score=510;Name=lod=158 NA 16q23.2 NA NA NA NA rs2257378 0.71 0.71 0.676 0.702676 0.8738 0.7202 0.8271 0.3608 0.8824 0.87 0.72 0.82 0.39 0.8206 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648475 NA NA 0.893837 0.450954 NA 0.783 NA 4.0784296 1244 10 103587552 103587552 G A ncRNA_intronic LOC100289509 NA NA NA ncRNA_intronic ENSG00000226009 NA NA NA NA NA 10q24.32 NA NA NA NA rs2305189 0.28 0.28 0.271 0.26897 0.1879 0.5079 0.1931 0.1891 0.2679 0.18 0.54 0.23 0.18 0.2214 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843281 NA NA 0.178953 0.185656 NA 0.312 NA 4.0784136 1244 10 23482850 23482850 G A UTR3 PTF1A NM_178161:c.*15G>A NA NA UTR3 ENSG00000168267 ENST00000376504:c.*15G>A NA NA NA NA 10p12.2 NA NA NA NA rs10828415 0.24 0.24 0.219 0.212859 0.0775 0.6895 0.1354 0.087 0.0859 0.08 0.67 0.13 0.05 0.1277 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268353 NA NA 0.049884 0.075579 NA 0.159 NA 4.0782494 1244 5 160097632 160097632 G A exonic ATP10B NA synonymous SNV ATP10B:NM_025153:exon7:c.C513T:p.R171R exonic ENSG00000118322 NA synonymous SNV ENSG00000118322:ENST00000327245:exon7:c.C513T:p.R171R NA NA 5q34 Score=883;Name=V$ELK1_01 NA NA NA rs958911 0.87 0.87 0.888 0.877596 0.8658 0.8929 0.7363 0.9327 0.8998 0.88 0.9 0.77 0.91 0.8565 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425667 NA NA 0.866397 0.931358 NA 0.913 NA 4.0779696 1244 14 21388397 21388397 C T downstream ECRP NA NA NA ncRNA_exonic ENSG00000136315 NA NA NA NA NA 14q11.2 NA NA NA NA rs12147654 0.05 0.05 0.05 0.0365415 0.0895 NA 0.0533 0.0076 0.047 0.1 NA 0.07 0.02 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373619 NA NA NA NA NA 0.022 NA 4.0771666 1244 15 81598225 81598225 C A intronic IL16 NA NA NA ncRNA_intronic ENSG00000271725 NA NA NA NA NA 15q25.1 NA NA NA NA rs17875533 0.15 0.15 0.151 0.144569 0.0746 0.1637 0.1614 0.2337 0.0644 0.07 0.19 0.14 0.24 0.0982 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401428 NA NA 0.083488 0.192465 NA 0.203 NA 4.0770453 1244 5 176721198 176721198 T C exonic NSD1 NA synonymous SNV NSD1:NM_022455:exon23:c.T6829C:p.L2277L,NSD1:NM_172349:exon24:c.T6022C:p.L2008L exonic ENSG00000165671 NA synonymous SNV ENSG00000165671:ENST00000361032:exon20:c.T6520C:p.L2174L,ENSG00000165671:ENST00000439151:exon23:c.T6829C:p.L2277L,ENSG00000165671:ENST00000347982:exon24:c.T6022C:p.L2008L,ENSG00000165671:ENST00000354179:exon24:c.T6022C:p.L2008L NA NA 5q35.3 NA NA NA NA rs28580074 0.77 0.77 0.773 0.771366 0.8807 0.4871 0.7839 0.9251 0.7352 0.88 0.49 0.8 0.92 0.8242 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386657 NA NA 0.884767 0.926691 ID=COSM150019;OCCURENCE=1(stomach) 0.819 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000082138.1|RCV000127260.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.0769996 1244 19 59067623 59067623 C T intronic UBE2M NA NA NA exonic ENSG00000130725 NA synonymous SNV ENSG00000130725:ENST00000596985:exon4:c.G294A:p.L98L NA NA 19q13.43 NA NA NA NA rs2305119 0.33 0.33 0.361 0.367212 0.2634 0.1627 0.366 0.6452 0.3098 0.25 0.15 0.32 0.66 0.2779 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.493508 1.493508 NA 0.215116 0.59714 NA 0.399 NA 4.0769173 1244 5 75996865 75996865 A G intronic IQGAP2 NA NA NA ncRNA_intronic ENSG00000225407 NA NA NA NA NA 5q13.3 NA NA NA NA rs468648 0.19 0.19 0.19 0.155351 0.0765 0.4147 0.1009 0.1263 0.047 0.07 0.42 0.11 0.14 0.0998 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438597 NA NA 0.080349 0.125511 NA 0.094 NA 4.0766843 1244 19 43865928 43865928 C A intronic CD177 NA NA NA ncRNA_intronic ENSG00000272396 NA NA NA NA NA 19q13.31 NA NA NA NA rs60356825 0.29 0.29 0.228 0.288339 0.2575 0.5417 0.3401 0.0242 0.3793 0.27 0.53 0.29 0.04 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411443 NA NA NA NA NA 0.275 NA 4.0758333 1244 19 14517594 14517594 C T intronic CD97 NA NA NA ncRNA_intronic ENSG00000267379 NA NA NA NA NA 19p13.12 NA NA NA NA rs74937637 0.08 0.08 0.054 0.0730831 0.0855 0.0625 0.1758 0.0129 0.0798 0.09 0.06 0.16 0.03 0.0859 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323407 NA NA 0.086163 0.023831 NA 0.065 NA 4.0757703 1244 19 35613623 35613623 G A intronic FXYD3 NA NA NA exonic ENSG00000089356 NA nonsynonymous SNV ENSG00000089356:ENST00000604804:exon5:c.G139A:p.E47K,ENSG00000089356:ENST00000603524:exon6:c.G139A:p.E47K NA NA 19q13.12 NA NA NA NA rs1688017 0.3 0.3 0.293 0.34345 0.3698 0.254 0.2493 0.2958 0.5399 0.38 0.23 0.23 0.32 0.3644 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380638 NA NA 0.356744 0.316841 NA 0.37 NA 4.0757227 1244 1 31501755 31501755 T C intronic PUM1 NA NA NA intronic ENSG00000134644 NA NA NA Score=265;Name=lod=16 NA 1p35.2 NA NA NA NA rs4949331 0.22 0.22 0.213 0.223442 0.2942 0.0288 0.3386 0.2579 0.2229 0.29 0.02 0.32 0.27 0.3018 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.815493 1.815493 NA 0.328488 0.270767 NA 0.304 NA 4.075512 1244 17 20334398 20334398 G A intergenic CCDC144CP,LGALS9B dist=28894;dist=18778 NA NA downstream ENSG00000189423 NA NA NA Score=686;Name=lod=817 NA 17p11.2 NA NA NA NA rs2694201 0.21 0.21 0.14 0.179712 0.4245 0.0169 0.3285 0.028 0.1953 0.4 0.01 0.35 0.03 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773629 NA NA NA NA NA 0.029 NA 4.0755 1244 18 7017322 7017322 A G exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon20:c.T2763C:p.C921C exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon20:c.T2763C:p.C921C NA NA 18p11.31 NA NA NA NA rs539713 0.54 0.54 0.564 0.547524 0.5368 0.2262 0.4135 0.9168 0.4857 0.55 0.26 0.43 0.9 0.5194 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852884 NA NA 0.535 0.841353 NA 0.551 NA 4.0754666 1244 14 24632828 24632828 G T intronic IRF9 NA NA NA UTR3 ENSG00000213928 ENST00000560852:c.*409G>T NA NA NA NA 14q12 NA NA NA NA rs3742501 0.16 0.16 0.153 0.165735 0.0915 0.0933 0.0836 0.3396 0.1401 0.09 0.12 0.09 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060653 NA NA NA NA NA 0.196 NA 4.0751667 1244 6 29718578 29718578 C G downstream IFITM4P NA NA NA ncRNA_exonic ENSG00000235821 NA NA NA NA NA 6p22.1 NA NA NA NA rs3823318 0.14 0.14 0.145 0.163738 0.0915 0.2659 0.0793 0.1384 0.227 0.09 0.27 0.07 0.13 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050001 NA NA NA NA NA 0.167 NA 4.0751666 1245 8 143993315 143993315 C T UTR3 CYP11B2 NM_000498:c.*81G>A NA NA UTR3 ENSG00000179142 ENST00000323110:c.*81G>A NA NA NA NA 8q24.3 NA NA NA NA rs3097 0.14 0.14 0.14 0.132188 0.2584 0.0526 0.1513 0.0189 0.2239 0.26 0.05 0.18 0.03 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188746 NA NA NA NA NA 0.109 NA 4.0749334 1245 3 39450065 39450065 C T intronic RPSA NA NA NA intronic ENSG00000168028 NA NA NA NA NA 3p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs3772138 0.26 0.26 0.244 0.250799 0.3082 0.2778 0.3084 0.152 0.2566 0.3 0.28 0.3 0.14 0.2928 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.347059 1.347059 NA 0.324302 0.166364 NA 0.225 NA 4.074698 1245 6 100896569 100896569 T G intronic SIM1 NA NA NA intronic ENSG00000112246 NA NA NA NA NA 6q16.3 NA Name=SUZ12 NA NA rs3734353 0.35 0.35 0.329 0.314497 0.3191 0.4306 0.4092 0.2526 0.2065 0.33 0.45 0.38 0.26 0.3127 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898072 NA NA 0.293605 0.261689 NA 0.348 NA 4.074595 1245 12 109629457 109629457 C T exonic ACACB NA synonymous SNV ACACB:NM_001093:exon13:c.C2184T:p.G728G exonic ENSG00000076555 NA synonymous SNV ENSG00000076555:ENST00000377848:exon13:c.C2184T:p.G728G,ENSG00000076555:ENST00000377854:exon13:c.C2184T:p.G728G,ENSG00000076555:ENST00000338432:exon14:c.C2184T:p.G728G NA NA 12q24.11 NA NA NA NA rs7135947 0.39 0.39 0.366 0.38139 0.5666 0.2589 0.5677 0.2231 0.3988 0.55 0.24 0.52 0.21 0.4891 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121794 NA NA 0.536628 0.266228 NA 0.348 NA 4.0743386 1245 22 41615376 41615376 C T intronic L3MBTL2 NA NA NA intronic ENSG00000100395 NA NA NA NA NA 22q13.2 NA Name=ZNF263 NA NA rs2273085 0.35 0.35 0.303 0.370008 0.3082 0.4117 0.4755 0.3094 0.3978 0.31 0.34 0.48 0.33 0.3371 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218042 NA NA 0.280465 0.278484 NA 0.42 NA 4.074235 1245 12 20903757 20903757 T C exonic SLCO1C1 NA synonymous SNV SLCO1C1:NM_001145944:exon12:c.T1593C:p.H531H,SLCO1C1:NM_001145946:exon15:c.T1947C:p.H649H exonic ENSG00000139155 NA synonymous SNV ENSG00000139155:ENST00000545102:exon12:c.T1593C:p.H531H,ENSG00000139155:ENST00000381552:exon14:c.T1947C:p.H649H,ENSG00000139155:ENST00000545604:exon15:c.T1947C:p.H649H NA NA 12p12.2 NA NA NA NA rs10841611 0.48 0.48 0.441 0.477436 0.504 0.5913 0.5735 0.1952 0.6462 0.52 0.63 0.54 0.22 0.5397 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18388 NA NA 0.54907 0.243305 NA 0.558 NA 4.0738966 1245 8 38853983 38853983 C A UTR5 TM2D2 NM_031940:c.-961G>T,NM_078473:c.-25G>T,NM_001024381:c.-961G>T,NM_001024380:c.-961G>T NA NA UTR5 ENSG00000169490 ENST00000412303:c.-961G>T,ENST00000456397:c.-25G>T,ENST00000456845:c.-961G>T,ENST00000397070:c.-961G>T,ENST00000517872:c.-961G>T NA NA NA NA 8p11.22 NA Name=Pol2(b),Pol2-4H8,Sin3Ak-20,RFX5_(N-494),MafK_(ab50322),HEY1,NFKB,AP-2gamma,CCNT2,c-Myc,TBP,Nrf1,HMGN3,MafF_(M8194),POU2F2,E2F6_(H-50),TAF1,E2F6,TAF7_(SQ-8),Pol2(phosphoS2),Mxi1_(bHLH),SP1,Pol2,Oct-2,ELF1_(SC-631),EBF1_(C-8) NA NA rs7840270 0.47 0.47 0.431 0.421925 0.4384 0.751 0.5144 0.1846 0.3211 0.44 0.73 0.49 0.19 0.4228 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.598218 1.598218 NA 0.398372 0.219246 NA 0.435 NA 4.0737614 1245 16 1657350 1657350 A T intronic IFT140 NA NA NA ncRNA_intronic ENSG00000260989 NA NA NA NA NA 16p13.3 NA NA NA NA rs743963 0.39 0.39 0.393 0.415136 0.2604 0.4603 0.1931 0.6165 0.4131 0.26 0.44 0.21 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134196 NA NA NA NA ID=COSN165087;OCCURENCE=1(NS),1(haematopoietic_and_lymphoid_tissue),1(urinary_tract),2(lung),1(large_intestine) 0.377 NA 4.0729333 1245 15 45453237 45453237 G A intronic DUOX1 NA NA NA ncRNA_intronic ENSG00000259539 NA NA NA NA NA 15q21.1 NA NA NA NA rs7495495 0.04 0.04 0.03 0.0303514 0.0845 NA 0.0461 0.0045 0.0297 0.08 0.0017 0.06 0.01 0.0761 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123921 NA NA 0.100047 0.022066 NA 0.051 NA 4.0726863 1245 3 53003179 53003179 A C UTR5 SFMBT1 NM_016329:c.-35T>G NA NA UTR5;UTR3 ENSG00000163935;ENSG00000272305 ENST00000394752:c.-35T>G,ENST00000394750:c.-35T>G,ENST00000296295:c.-35T>G,ENST00000358080:c.-35T>G,ENST00000482396:c.-35T>G,ENST00000483069:c.-35T>G,ENST00000497586:c.-35T>G;ENST00000607495:c.*678T>G NA NA NA NA 3p21.1 NA NA NA NA rs11717619 0.1 0.1 0.087 0.096246 0.0775 0.0556 0.1153 0.1505 0.0706 0.08 0.05 0.13 0.18 0.0866 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488661 NA NA 0.096977 0.148434 NA 0.203 NA 4.0722564 1245 11 61165280 61165280 G A exonic TMEM216 NA synonymous SNV TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_016499:exon4:c.G81A:p.P27P exonic ENSG00000187049 NA synonymous SNV ENSG00000187049:ENST00000334888:exon4:c.G264A:p.P88P,ENSG00000187049:ENST00000398979:exon4:c.G81A:p.P27P,ENSG00000187049:ENST00000515837:exon4:c.G264A:p.P88P NA NA 11q12.2 NA NA NA NA rs3741265 0.87 0.87 0.85 0.855831 0.8678 0.9762 0.879 0.7443 0.8538 0.88 0.97 0.88 0.73 0.8659 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056712 NA NA 0.860966 0.774038 NA 0.783 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114238.2;CLNDSDB=.;CLNDSDBID=. 4.0720006 1245 18 77102423 77102423 G T intronic ATP9B NA NA NA ncRNA_intronic ENSG00000267015 NA NA NA NA NA 18q23 NA NA NA NA rs11659393 0.28 0.28 0.277 0.272165 0.2614 0.4871 0.1945 0.0416 0.4284 0.27 0.52 0.23 0.05 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609012 NA NA NA NA NA 0.225 NA 4.0719333 1245 7 154672551 154672551 G C intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA Name=MafK_(ab50322) NA NA rs4960632 0.42 0.42 0.39 0.422324 0.2833 0.5625 0.4856 0.4992 0.272 0.28 0.54 0.45 0.46 0.3581 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173879 NA NA 0.286733 0.446523 NA 0.384 NA 4.071867 1245 1 110741086 110741086 C T UTR3 SLC6A17 NM_001010898:c.*20C>T NA NA UTR3 ENSG00000197106 ENST00000331565:c.*20C>T NA NA NA NA 1p13.3 NA NA NA NA rs41306175 0.06 0.06 0.08 0.0497204 0.0865 0.006 0.0634 0.0741 0.0143 0.09 0.01 0.07 0.08 0.0776 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.347915 1.347915 NA 0.097646 0.078636 NA 0.058 NA 4.0715874 1245 20 43560914 43560914 T C intronic PABPC1L NA NA NA UTR5 ENSG00000101104 ENST00000372824:c.-807T>C,ENST00000372819:c.-807T>C NA NA NA NA 20q13.12 NA NA NA NA rs3746582 0.11 0.11 0.104 0.103834 0.0954 0.1528 0.0836 0.1407 0.0266 0.09 0.15 0.07 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847074 NA NA NA NA NA 0.138 NA 4.0712667 1245 6 84799231 84799231 G T UTR3 MRAP2 NM_138409:c.*31G>T NA NA UTR3 ENSG00000135324 ENST00000257776:c.*31G>T NA NA NA NA 6q14.2 NA NA NA NA rs9449777 0.18 0.18 0.189 0.206669 0.0726 0.0099 0.1455 0.5772 0.09 0.07 0.01 0.15 0.57 0.1156 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824251 NA NA 0.074186 0.512029 NA 0.225 NA 4.0709474 1245 9 68414172 68414172 G T intergenic ANKRD20A3,LOC642236 dist=443879;dist=13611 NA NA ncRNA_exonic ENSG00000232815 NA NA NA NA NA 9q13 NA NA Name=129 NA rs4928849 NA NA NA 0.935104 0.9294 0.9385 0.9121 0.9402 0.9468 NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335553 NA NA NA NA NA 0.275 NA 4.0706 1245 9 98215631 98215631 T C intronic PTCH1 NA NA NA UTR3 ENSG00000185920 ENST00000375290:c.*1886A>G NA NA NA NA 9q22.32 NA NA NA NA rs28583690 0.1 0.1 0.085 0.0842652 0.0964 0.0873 0.0677 0.1165 0.0368 0.11 0.1 0.07 0.1 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079342 NA NA NA NA NA 0.072 NA 4.0702667 1245 11 71511869 71511869 C T ncRNA_UTR3 FAM86C1 NA NA NA ncRNA_UTR3 ENSG00000158483 NA NA NA NA NA 11q13.4 NA NA NA NA rs3750916 0.44 0.44 0.409 0.426118 0.5964 0.3661 0.3674 0.2542 0.5869 0.6 0.36 0.4 0.29 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026262 NA NA NA NA NA 0.319 NA 4.0702666 1245 11 71511925 71511925 C A ncRNA_UTR3 FAM86C1 NA NA NA ncRNA_UTR3 ENSG00000158483 NA NA NA NA NA 11q13.4 NA NA NA NA rs3750915 0.43 0.43 0.397 0.432508 0.5964 0.369 0.3674 0.2753 0.5879 0.58 0.36 0.4 0.32 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346474 NA NA NA NA NA 0.029 NA 4.0702666 1245 11 5537780 5537780 C A UTR5 UBQLNL NM_145053:c.-109G>T NA NA UTR5 ENSG00000175518 ENST00000380184:c.-109G>T NA NA NA NA 11p15.4 NA NA NA NA rs1809862 0.32 0.32 0.276 0.296326 0.2634 0.3552 0.33 0.2799 0.2679 0.28 0.38 0.3 0.31 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111409 NA NA NA NA NA 0.29 NA 4.0699334 1245 5 148925346 148925346 T A intronic CSNK1A1 NA NA NA ncRNA_exonic ENSG00000241112 NA NA NA NA NA 5q32 NA NA NA NA rs6883553 0.32 0.32 0.31 0.325479 0.2634 0.2688 0.2723 0.5303 0.2086 0.26 0.27 0.33 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.751259 1.751259 NA NA NA NA 0.275 NA 4.0699333 1245 1 26583998 26583998 T C intronic CEP85 NA NA NA intronic ENSG00000130695 NA NA NA NA NA 1p36.11 NA Name=GATA-1 NA NA rs4659417 0.76 0.76 0.766 0.726438 0.9304 0.4583 0.696 0.8812 0.6053 0.93 0.47 0.73 0.85 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437329 NA NA NA NA NA 0.783 NA 4.0696 1245 8 38876466 38876466 T C intronic ADAM9 NA NA NA intronic ENSG00000168615 NA NA NA Score=295;Name=lod=21 NA 8p11.22 NA NA NA NA rs6474518 0.48 0.48 NA 0.455671 0.4672 0.7282 0.5259 0.2859 0.3425 0.44 0.66 0.49 0.3 0.456 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.472839 1.472839 NA 0.007558 0.004085 NA NA NA 4.069242 1245 22 27021457 27021457 T C exonic CRYBA4 NA synonymous SNV CRYBA4:NM_001886:exon4:c.T171C:p.F57F exonic ENSG00000196431 NA synonymous SNV ENSG00000196431:ENST00000354760:exon4:c.T171C:p.F57F Score=578;Name=lod=299 NA 22q12.1 NA NA NA NA rs5761637 0.92 0.92 0.925 0.923722 0.8579 0.994 0.889 0.9334 0.9305 0.85 1 0.9 0.94 0.8927 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074302 NA NA 0.847093 0.924648 NA 0.862 NA 4.0689736 1245 11 120176310 120176310 G A intronic POU2F3 NA NA NA intronic ENSG00000137709 NA NA NA NA NA 11q23.3 NA NA Name=14 NA rs12790634 0.2 0.2 0.195 0.176118 0.331 0.0298 0.2695 0.1218 0.1748 0.33 0.03 0.26 0.16 0.2723 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834741 NA NA 0.327751 0.162052 NA 0.333 NA 4.068949 1245 17 5271804 5271804 A G intronic RABEP1 NA NA NA ncRNA_intronic ENSG00000263220 NA NA NA NA NA 17p13.2 NA NA NA NA rs7213832 0.09 0.09 0.107 0.0990415 0.0915 0.001 0.0519 0.2458 0.0429 0.1 NA 0.06 0.21 0.0857 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.591707 1.591707 NA 0.087839 0.221374 NA 0.167 NA 4.0682943 1245 11 69588020 69588020 C T UTR3 FGF4 NM_002007:c.*57G>A NA NA UTR3 ENSG00000075388 ENST00000168712:c.*57G>A NA NA NA NA 11q13.3 NA NA NA NA rs3740639 0.21 0.21 0.203 0.176318 0.2654 0.1627 0.1931 0.0893 0.2045 0.26 0.2 0.25 0.11 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544512 NA NA NA NA NA 0.333 NA 4.0679334 1245 17 25419373 25419373 T A intergenic NONE,MIR4522 dist=NONE;dist=201563 NA NA intergenic ENSG00000265646,ENSG00000265246 dist=8311;dist=145512 NA NA NA NA 17q11.1 NA Name=Pol2-4H8,HEY1 NA NA rs61354713 0.39 0.39 0.366 0.414936 0.2654 0.502 0.4323 0.5061 0.3436 0.25 0.49 0.39 0.48 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451244 NA NA NA NA NA 0.13 NA 4.0679334 1245 9 215511 215511 C T UTR5 C9orf66 NM_152569:c.-115G>A NA NA UTR5 ENSG00000183784 ENST00000382387:c.-115G>A NA NA NA NA 9p24.3 NA NA NA NA rs2023402 0.39 0.39 0.37 0.440895 0.2664 0.3343 0.4885 0.6082 0.4703 0.27 0.31 0.47 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131644 NA NA NA NA NA 0.42 NA 4.0669334 1245 8 82720760 82720760 G A intronic SNX16 NA NA NA ncRNA_exonic ENSG00000231942 NA NA NA NA NA 8q21.13 NA NA NA NA rs2600605 0.27 0.27 0.249 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065743 NA NA NA NA NA 0.217 NA 4.0669333 1245 4 69696638 69696638 A G UTR3 UGT2B10 NM_001144767:c.*41A>G,NM_001075:c.*41A>G NA NA UTR3 ENSG00000109181 ENST00000265403:c.*41A>G,ENST00000458688:c.*41A>G NA NA NA NA 4q13.2 NA NA NA NA rs17146905 0.09 0.09 0.07 0.0896565 0.0924 0.1756 0.0778 0.0499 0.0603 0.09 0.16 0.08 0.03 0.0857 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090907 NA NA 0.088345 0.046875 NA 0.138 NA 4.0668884 1245 16 74706349 74706349 T C UTR3 MLKL NM_001142497:c.*53A>G,NM_152649:c.*53A>G NA NA UTR3 ENSG00000168404 ENST00000306247:c.*53A>G,ENST00000308807:c.*53A>G,ENST00000576529:c.*53A>G NA NA NA NA 16q23.1 NA NA NA NA rs9783779 0.12 0.12 0.091 0.127596 0.1451 0.0466 0.2925 0.0968 0.1176 0.15 0.05 0.25 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725413 NA NA 0.121622 0.09104 NA 0.138 NA 4.0666114 1245 11 47213117 47213117 G A intergenic PACSIN3,DDB2 dist=5107;dist=23376 NA NA upstream ENSG00000243802 NA NA NA Score=528;Name=lod=187 NA 11p11.2 NA NA NA NA rs11039122 0.29 0.29 0.249 0.267572 0.4334 0.2063 0.4438 0.053 0.3252 0.42 0.21 0.43 0.06 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36515 1.36515 NA NA NA NA 0.435 NA 4.0666 1245 11 64977424 64977424 C T intronic CAPN1 NA NA NA intronic ENSG00000014216 NA NA NA NA NA 11q13.1 NA NA Name=2 NA rs2271448 0.29 0.29 0.257 0.27476 0.325 0.2421 0.4308 0.1513 0.3129 0.33 0.24 0.37 0.21 0.3091 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001642 NA NA 0.299641 0.182532 NA 0.29 NA 4.066259 1245 19 53343779 53343779 A G UTR3 ZNF468 NM_001008801:c.*199T>C,NM_001277120:c.*1502T>C NA NA UTR3 ENSG00000204604 ENST00000595646:c.*199T>C,ENST00000390651:c.*199T>C,ENST00000396409:c.*199T>C,ENST00000243639:c.*1502T>C NA NA NA NA 19q13.41 NA NA NA NA rs9749285 0.3 0.3 0.315 0.364217 0.2674 0.1101 0.2781 0.5764 0.5 0.27 0.11 0.29 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244073 NA NA NA NA NA 0.362 NA 4.0659334 1245 19 42265866 42265866 C G intronic CEACAM6 NA NA NA ncRNA_intronic ENSG00000268833 NA NA NA Score=289;Name=lod=20 NA 19q13.2 NA NA NA NA rs28547939 0.54 0.54 0.547 0.54393 0.4026 0.5635 0.5346 0.7315 0.4223 0.41 0.58 0.5 0.73 0.456 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215166 NA NA 0.408953 0.668634 NA 0.442 NA 4.0657803 1245 17 40716520 40716520 A G exonic COASY NA synonymous SNV COASY:NM_025233:exon3:c.A972G:p.T324T,COASY:NM_001042529:exon4:c.A972G:p.T324T,COASY:NM_001042532:exon5:c.A1059G:p.T353T exonic ENSG00000068120 NA synonymous SNV ENSG00000068120:ENST00000393818:exon3:c.A972G:p.T324T,ENSG00000068120:ENST00000420359:exon4:c.A972G:p.T324T,ENSG00000068120:ENST00000421097:exon4:c.A972G:p.T324T,ENSG00000068120:ENST00000449624:exon4:c.A87G:p.T29T,ENSG00000068120:ENST00000591779:exon4:c.A87G:p.T29T,ENSG00000068120:ENST00000590958:exon5:c.A1059G:p.T353T NA NA 17q21.2 NA NA NA NA rs598126 0.47 0.47 0.44 0.504593 0.5229 0.4534 0.487 0.4198 0.6656 0.53 0.45 0.44 0.45 0.5361 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042331 NA NA 0.542209 0.422379 NA 0.601 NA 4.0654576 1245 19 20808149 20808149 A G exonic ZNF626 NA synonymous SNV ZNF626:NM_001076675:exon4:c.T534C:p.C178C exonic ENSG00000188171 NA synonymous SNV ENSG00000188171:ENST00000595405:exon2:c.T306C:p.C102C,ENSG00000188171:ENST00000601440:exon4:c.T534C:p.C178C Score=304;Name=lod=23 NA 19p12 NA NA NA NA rs1991528 0.8 0.8 0.792 0.779153 0.8936 0.8343 0.8804 0.5802 0.8016 0.88 0.83 0.9 0.58 0.8348 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191888 NA NA 0.873175 0.646406 NA 0.826 NA 4.0650916 1246 11 21581665 21581665 C T intronic NELL1 NA NA NA intronic ENSG00000165973 NA NA NA NA NA 11p15.1 NA Name=FOXA1_(C-20) NA NA rs7119475 0.83 0.83 0.816 0.783946 0.9354 0.8056 0.8775 0.5976 0.7914 0.94 0.85 0.9 0.6 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136115 NA NA NA NA NA 0.841 NA 4.0646 1246 15 31110071 31110071 A G upstream HERC2P10 NA NA NA ncRNA_intronic ENSG00000259845 NA NA NA NA NA 15q13.2 NA NA NA NA rs3815112 0.1 0.1 0.088 0.1252 0.1024 0.0317 0.0821 0.2632 0.089 0.09 0.03 0.1 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738079 NA NA NA NA NA 0.036 NA 4.0642666 1246 6 56359034 56359034 C A ncRNA_intronic RNU6-71P NA NA NA intronic ENSG00000151914 NA NA NA NA NA 6p12.1 NA NA NA NA rs11759493 0.21 0.21 0.196 0.222045 0.2694 0.2401 0.2594 0.0688 0.3354 0.26 0.23 0.29 0.06 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.704239 2.704239 NA NA NA NA 0.203 NA 4.0639333 1246 3 124739892 124739892 G A exonic HEG1 NA synonymous SNV HEG1:NM_020733:exon4:c.C996T:p.A332A exonic ENSG00000173706 NA synonymous SNV ENSG00000173706:ENST00000311127:exon4:c.C996T:p.A332A NA NA 3q21.2 NA NA NA NA rs6438874 0.5 0.5 0.476 0.509585 0.5437 0.4772 0.4769 0.4561 0.6033 0.56 0.5 0.48 0.43 0.5532 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271021 NA NA 0.506067 0.432166 NA 0.406 NA 4.0636996 1246 3 150403749 150403749 T C intronic FAM194A NA NA NA intronic ENSG00000163645 NA NA NA Score=403;Name=lod=58 NA 3q25.1 NA NA NA NA rs4680107 0.36 0.36 0.354 0.346645 0.2913 0.4683 0.3991 0.357 0.227 0.3 0.46 0.33 0.38 0.3276 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.259904 2.259904 NA 0.317558 0.367907 NA 0.319 NA 4.063542 1246 3 49450449 49450449 C T intronic TCTA NA NA NA intronic ENSG00000145022 NA NA NA NA NA 3p21.31 NA NA Name=17 NA rs6779524 0.25 0.25 0.235 0.217851 0.336 0.0724 0.1744 0.2738 0.2014 0.34 0.09 0.23 0.32 0.2863 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.138649 4.138649 NA 0.314302 0.294144 NA 0.283 NA 4.063398 1246 13 101287365 101287365 T C exonic TMTC4 NA synonymous SNV TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A exonic ENSG00000125247 NA synonymous SNV ENSG00000125247:ENST00000328767:exon8:c.A897G:p.A299A,ENSG00000125247:ENST00000376234:exon10:c.A1230G:p.A410A,ENSG00000125247:ENST00000342624:exon11:c.A1287G:p.A429A NA NA 13q32.3 Score=824;Name=V$GRE_C NA NA NA rs946838 0.86 0.86 0.84 0.83766 0.8708 0.9901 0.889 0.6437 0.8722 0.86 0.99 0.88 0.7 0.8647 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073092 NA NA 0.868023 0.686564 NA 0.775 NA 4.0631436 1246 4 189063392 189063392 G A intronic TRIML1 NA NA NA ncRNA_intronic ENSG00000247130 NA NA NA NA NA 4q35.2 NA NA NA NA rs78828180 0.15 0.15 0.068 0.133786 0.0865 0.2262 0.0922 0.1354 0.1145 0.09 0.24 0.11 0.16 0.1178 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.633184 1.633184 NA 0.06593 0.110581 NA NA NA 4.0631033 1246 19 10370490 10370490 T A UTR3 MRPL4 NM_146387:c.*1T>A,NM_146388:c.*1076T>A,NM_015956:c.*1T>A NA NA ncRNA_UTR3 ENSG00000105364 NA NA NA NA NA 19p13.2 NA NA NA NA rs1059840 0.13 0.13 0.134 0.133187 0.1491 0.0734 0.1354 0.1505 0.1534 0.15 0.08 0.16 0.16 0.1401 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289432 NA NA 0.147791 0.170222 NA 0.13 NA 4.063009 1246 10 97779281 97779281 G A ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_exonic ENSG00000226688 NA NA NA NA NA 10q24.1 NA NA NA NA rs4918984 0.69 0.69 0.71 0.704473 0.6044 0.8522 0.6988 0.6762 0.6973 0.6 0.83 0.65 0.71 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.15603 NA NA NA NA NA 0.667 NA 4.0622666 1246 3 37017798 37017798 C G intergenic TRANK1,EPM2AIP1 dist=31250;dist=9559 NA NA upstream ENSG00000236165 NA NA NA Score=647;Name=lod=567 NA 3p22.2 NA NA NA NA rs56198917 0.27 0.27 NA 0.215855 0.4384 0.0744 0.353 0.0817 0.2168 0.45 0.09 0.41 0.11 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09009 NA NA NA NA NA 0.326 NA 4.0616 1246 19 49838891 49838891 C A intronic CD37 NA NA NA ncRNA_intronic ENSG00000197813 NA NA NA NA NA 19q13.33 NA Name=NFKB,ZBTB7A_(SC-34508),Egr-1,TAF1,Pol2,YY1_(C-20) Name=14 NA rs354020 0.75 0.75 0.72 0.761981 0.7425 0.8085 0.83 0.6732 0.8057 0.76 0.79 0.8 0.63 0.7759 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200075 NA NA 0.753837 0.663414 NA 0.638 NA 4.0610963 1246 11 118255278 118255278 G A ncRNA_intronic LOC100131626 NA NA NA intronic ENSG00000110344 NA NA NA NA NA 11q23.3 NA NA NA NA rs6589663 0.36 0.36 0.347 0.390575 0.2724 0.5813 0.2032 0.3177 0.547 0.28 0.6 0.24 0.27 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818115 NA NA NA NA NA 0.297 NA 4.0609333 1246 1 152975829 152975829 A G exonic SPRR3 NA synonymous SNV SPRR3:NM_001097589:exon2:c.A333G:p.E111E,SPRR3:NM_005416:exon3:c.A333G:p.E111E exonic ENSG00000163209 NA synonymous SNV ENSG00000163209:ENST00000295367:exon2:c.A333G:p.E111E,ENSG00000163209:ENST00000542696:exon2:c.A309G:p.E103E,ENSG00000163209:ENST00000331860:exon3:c.A333G:p.E111E,ENSG00000163209:ENST00000443178:exon3:c.A333G:p.E111E NA NA 1q21.3 NA NA NA NA rs1970328 0.55 0.55 0.559 0.52496 0.5328 0.6319 0.4337 0.5 0.5051 0.53 0.66 0.48 0.52 0.5296 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243868 NA NA 0.543372 0.524966 NA 0.384 NA 4.0608946 1246 15 69383785 69383785 C T ncRNA_intronic LINC00277,MIR548H4 NA NA NA ncRNA_intronic ENSG00000212766,ENSG00000259222 NA NA NA NA NA 15q23 NA NA NA NA rs4777110 0.56 0.56 0.542 0.52476 0.6064 0.4692 0.5605 0.5507 0.4376 0.6 0.47 0.6 0.56 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298839 NA NA NA NA NA 0.536 NA 4.0602666 1246 2 47067540 47067540 G C ncRNA_intronic LOC100134259 NA NA NA intronic ENSG00000239332 NA NA NA NA NA 2p21 NA NA NA NA rs35772556 0.17 0.17 0.161 0.173922 0.2734 0.126 0.1513 0.0477 0.3078 0.28 0.13 0.18 0.05 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053556 NA NA NA NA NA 0.275 NA 4.0599333 1246 4 159199382 159199382 G A intergenic TMEM144,RXFP1 dist=22943;dist=243484 NA NA ncRNA_exonic ENSG00000251429 NA NA NA Score=742;Name=lod=1387 NA 4q32.1 NA NA NA NA rs2009748 0.82 0.82 0.8 0.759185 0.9404 0.8829 0.745 0.5053 0.7986 0.95 0.9 0.82 0.53 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.342595 NA NA NA NA NA 0.775 NA 4.0596 1246 22 42523805 42523805 C T intronic CYP2D6 NA NA NA ncRNA_intronic ENSG00000237037 NA NA NA NA NA 22q13.2 NA NA NA NA rs28371725 0.06 0.06 0.048 0.0634984 0.0934 0.0377 0.062 0.0182 0.1217 0.09 0.03 0.08 0.02 0.0808 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427942 NA 0.4 0.099977 0.033728 NA 0.08 NA 4.0591563 1246 19 56499337 56499337 C T UTR3 NLRP8 NM_176811:c.*58C>T NA NA UTR3 ENSG00000179709 ENST00000291971:c.*58C>T NA NA NA NA 19q13.43 NA NA NA NA rs306456 0.25 0.25 0.243 0.236821 0.2744 0.2351 0.2133 0.2141 0.2474 0.29 0.24 0.22 0.22 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624094 NA NA NA NA NA 0.196 NA 4.0589334 1246 8 145730330 145730330 G A intronic GPT NA NA NA ncRNA_intronic ENSG00000255182 NA NA NA NA NA 8q24.3 NA NA Name=2 NA rs2101039 0.39 0.39 0.339 0.399561 0.4245 0.5337 0.4553 0.1536 0.5286 0.42 0.48 0.49 0.15 0.4286 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614357 NA NA 0.421512 0.205949 NA 0.275 NA 4.0587213 1246 7 100482026 100482026 T C exonic SRRT NA synonymous SNV SRRT:NM_001128852:exon7:c.T795C:p.L265L,SRRT:NM_001128853:exon7:c.T795C:p.L265L,SRRT:NM_001128854:exon7:c.T795C:p.L265L,SRRT:NM_015908:exon7:c.T795C:p.L265L exonic ENSG00000087087 NA synonymous SNV ENSG00000087087:ENST00000347433:exon7:c.T795C:p.L265L,ENSG00000087087:ENST00000388793:exon7:c.T795C:p.L265L,ENSG00000087087:ENST00000432932:exon7:c.T795C:p.L265L,ENSG00000087087:ENST00000457580:exon7:c.T795C:p.L265L NA NA 7q22.1 NA NA NA NA rs15624 0.59 0.59 0.591 0.576877 0.5159 0.8095 0.6513 0.4107 0.5716 0.52 0.81 0.62 0.43 0.569 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312057 NA NA 0.523605 0.442351 NA 0.413 NA 4.0581616 1246 7 100458795 100458795 T C exonic SLC12A9 NA synonymous SNV SLC12A9:NM_001267814:exon8:c.T987C:p.A329A,SLC12A9:NM_001267812:exon10:c.T1254C:p.A418A,SLC12A9:NM_020246:exon10:c.T1254C:p.A418A exonic ENSG00000146828 NA synonymous SNV ENSG00000146828:ENST00000416675:exon7:c.T678C:p.A226A,ENSG00000146828:ENST00000418037:exon7:c.T462C:p.A154A,ENSG00000146828:ENST00000275729:exon8:c.T987C:p.A329A,ENSG00000146828:ENST00000415287:exon8:c.T987C:p.A329A,ENSG00000146828:ENST00000354161:exon10:c.T1254C:p.A418A,ENSG00000146828:ENST00000428758:exon10:c.T1254C:p.A418A,ENSG00000146828:ENST00000540482:exon10:c.T1254C:p.A418A NA NA 7q22.1 NA NA NA NA rs314378 0.59 0.59 0.586 0.578474 0.5159 0.8095 0.6527 0.4168 0.5706 0.52 0.81 0.62 0.44 0.5689 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973758 NA NA 0.523721 0.446891 NA 0.457 NA 4.0581456 1246 14 106173790 106173790 A G intergenic ELK2AP,KIAA0125 dist=34646;dist=210048 NA NA exonic ENSG00000211895 NA synonymous SNV ENSG00000211895:ENST00000390547:exon3:c.T777C:p.D259D NA NA 14q32.33 NA NA NA NA rs8709 NA NA 0.48 NA NA NA NA NA NA NA NA NA NA 0.442 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080254 NA NA NA NA NA 0.167 NA 4.058 1246 5 169715038 169715038 A G intronic LCP2 NA NA NA intronic ENSG00000043462 NA NA NA NA NA 5q35.1 NA NA Name=2 NA rs315721 0.34 0.34 0.346 0.355232 0.3022 0.377 0.3285 0.3933 0.3548 0.29 0.35 0.31 0.42 0.3362 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032643 NA NA 0.303813 0.360042 NA 0.377 NA 4.057787 1246 22 42392811 42392811 G A UTR3 SEPT3 NM_019106:c.*2051G>A NA NA UTR3 ENSG00000100167 ENST00000396425:c.*2051G>A NA NA NA NA 22q13.2 NA NA NA NA rs1062753 0.25 0.25 0.24 0.259984 0.2763 0.0585 0.3876 0.3472 0.2423 0.27 0.05 0.42 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611611 NA NA NA NA NA 0.42 NA 4.0570334 1246 19 52403516 52403516 T C UTR5 ZNF649 NM_023074:c.-156A>G NA NA ncRNA_exonic ENSG00000268095 NA NA NA NA NA 19q13.41 NA NA NA NA rs1549931 0.68 0.68 0.707 0.705671 0.4433 0.7411 0.6513 0.9486 0.6493 0.46 0.77 0.62 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441436 NA NA NA NA NA 0.659 NA 4.0567 1246 12 7049999 7049999 C T intronic ATN1 NA NA NA intronic ENSG00000111676 NA NA NA NA NA 12p13.31 Score=814;Name=V$RREB1_01 NA NA NA rs2071076 0.43 0.43 0.443 0.461861 0.2962 0.2768 0.389 0.8608 0.3354 0.29 0.25 0.43 0.85 0.345 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.586271 2.586271 NA 0.302791 0.766228 NA 0.464 NA 4.056009 1246 15 91428589 91428589 T G intronic FES NA NA NA exonic ENSG00000182511 NA nonsynonymous SNV ENSG00000182511:ENST00000470152:exon2:c.T314G:p.M105R NA NA 15q26.1 NA NA NA NA rs7183988 0.6 0.6 0.555 0.592053 0.5258 0.8085 0.6398 0.441 0.6074 0.52 0.83 0.64 0.43 0.5858 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771879 NA NA NA NA NA 0.486 NA 4.0550667 1247 3 151463493 151463493 A G ncRNA_intronic MIR548H2 NA NA NA intronic ENSG00000197953 NA NA NA NA NA 3q25.1 NA NA NA NA rs1550964 0.14 0.14 0.119 0.155152 0.0795 0.1786 0.1484 0.1384 0.2362 0.09 0.18 0.14 0.15 0.1222 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717704 NA NA 0.077013 0.138409 NA 0.109 NA 4.0546203 1247 12 8388349 8388349 A G ncRNA_intronic FAM86FP NA NA NA ncRNA_exonic ENSG00000215241 NA NA NA NA NA 12p13.31 NA NA NA NA rs7973130 0.45 0.45 0.45 0.379193 0.6123 0.4137 0.3963 0.1505 0.4008 0.62 0.47 0.45 0.16 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686012 NA NA NA NA ID=COSN164134;OCCURENCE=1(NS) 0.029 NA 4.0543666 1247 10 88768657 88768657 C T exonic AGAP11 NA synonymous SNV AGAP11:NM_133447:exon12:c.C648T:p.D216D ncRNA_exonic ENSG00000151303,ENSG00000261011,ENSG00000271880 NA NA NA Score=371;Name=lod=43 NA 10q23.2 NA NA NA NA rs1745901 0.79 0.79 0.794 0.777756 0.7038 0.9286 0.7522 0.8116 0.6708 0.7 0.93 0.72 0.83 0.7274 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217694 NA NA 0.681163 0.78325 NA 0.71 NA 4.0543036 1247 6 46856100 46856100 G A exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon4:c.C300T:p.T100T,GPR116:NM_015234:exon4:c.C300T:p.T100T exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000265417:exon4:c.C300T:p.T100T,ENSG00000069122:ENST00000283296:exon4:c.C300T:p.T100T,ENSG00000069122:ENST00000362015:exon4:c.C300T:p.T100T,ENSG00000069122:ENST00000456426:exon4:c.C300T:p.T100T NA NA 6p12.3 NA Name=c-Fos,GATA-2 NA NA rs678312 0.89 0.89 0.887 0.861022 0.8618 0.8413 0.8602 0.9387 0.7761 0.86 0.87 0.84 0.97 0.8752 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882707 NA NA 0.875581 0.929641 NA 0.935 NA 4.0540856 1247 5 169805629 169805629 T G UTR3 KCNMB1 NM_004137:c.*79A>C NA NA UTR3 ENSG00000145936 ENST00000274629:c.*79A>C NA NA NA NA 5q35.1 NA NA NA NA rs2656841 0.34 0.34 0.023 0.405351 0.2793 0.374 0.3314 0.5197 0.4652 0.24 0.37 0.31 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881746 NA NA NA NA NA NA NA 4.0540334 1247 5 169805630 169805630 G T UTR3 KCNMB1 NM_004137:c.*78C>A NA NA UTR3 ENSG00000145936 ENST00000274629:c.*78C>A NA NA NA NA 5q35.1 NA NA NA NA rs2656842 0.35 0.35 0.017 0.405351 0.2793 0.374 0.3314 0.5197 0.4652 0.25 0.37 0.31 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206634 NA NA NA NA NA NA NA 4.0540334 1247 15 86287724 86287724 G A intronic AKAP13 NA NA NA ncRNA_exonic ENSG00000259407 NA NA NA NA NA 15q25.3 NA NA NA NA rs11629690 0.16 0.16 0.129 0.137181 0.2793 0.0496 0.2277 0.0098 0.1892 0.28 0.06 0.24 0.01 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547277 NA NA NA NA NA 0.217 NA 4.0540333 1247 11 1213174 1213174 A G intergenic MUC2,MUC5B dist=108757;dist=31121 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=50813;dist=31122 NA NA NA NA 11p15.5 NA NA Name=35 NA rs74046245 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2794 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059061 NA NA NA NA NA 0.022 NA 4.0539334 1247 9 90396135 90396135 G A ncRNA_exonic CTSL3P NA NA NA ncRNA_exonic ENSG00000188029 NA NA NA NA NA 9q21.33 NA NA NA NA rs9410963 0.21 0.21 0.193 0.212061 0.1938 0.249 0.255 0.1626 0.229 0.18 0.26 0.27 0.16 0.2079 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511809 NA NA 0.211163 0.167272 NA 0.239 NA 4.0538036 1247 7 50742180 50742180 C T exonic GRB10 NA synonymous SNV GRB10:NM_001001549:exon3:c.G315A:p.P105P,GRB10:NM_001001550:exon3:c.G141A:p.P47P,GRB10:NM_005311:exon3:c.G315A:p.P105P,GRB10:NM_001001555:exon4:c.G141A:p.P47P exonic ENSG00000106070 NA synonymous SNV ENSG00000106070:ENST00000357271:exon3:c.G315A:p.P105P,ENSG00000106070:ENST00000398810:exon3:c.G141A:p.P47P,ENSG00000106070:ENST00000398812:exon3:c.G315A:p.P105P,ENSG00000106070:ENST00000402497:exon3:c.G141A:p.P47P,ENSG00000106070:ENST00000402578:exon3:c.G141A:p.P47P,ENSG00000106070:ENST00000407526:exon3:c.G141A:p.P47P,ENSG00000106070:ENST00000439599:exon3:c.G297A:p.P99P,ENSG00000106070:ENST00000335866:exon4:c.G141A:p.P47P,ENSG00000106070:ENST00000406641:exon4:c.G141A:p.P47P,ENSG00000106070:ENST00000403097:exon5:c.G297A:p.P99P,ENSG00000106070:ENST00000439044:exon5:c.G297A:p.P99P,ENSG00000106070:ENST00000401949:exon6:c.G315A:p.P105P NA NA 7p12.1 NA NA NA NA rs1800504 0.51 0.51 0.51 0.532548 0.5328 0.4028 0.5288 0.6626 0.4928 0.52 0.35 0.55 0.65 0.5213 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896893 NA NA 0.558942 0.6704 NA 0.572 NA 4.0536246 1247 11 119291480 119291480 G A ncRNA_intronic LOC100499227 NA NA NA ncRNA_intronic ENSG00000245248 NA NA NA NA NA 11q23.3 NA NA NA NA rs3138091 0.62 0.62 0.612 0.631589 0.6133 0.879 0.5692 0.3654 0.7996 0.63 0.88 0.55 0.37 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227044 NA NA NA NA NA 0.543 NA 4.0533666 1247 19 45016116 45016116 A G exonic CEACAM20 NA nonsynonymous SNV CEACAM20:NM_001102598:exon9:c.T1255C:p.C419R,CEACAM20:NM_001102599:exon9:c.T1255C:p.C419R,CEACAM20:NM_001102597:exon10:c.T1534C:p.C512R,CEACAM20:NM_001102600:exon10:c.T1534C:p.C512R ncRNA_exonic ENSG00000176395 NA NA NA NA NA 19q13.31 NA NA NA NA rs8100718 0.37 0.37 0.334 0.384385 0.4612 0.3919 0.4078 0.1679 0.5736 0.45 0.37 0.47 0.16 0.4841 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107301 NA 0.01 0.501439 0.229479 ID=COSM1129797;OCCURENCE=1(prostate) 0.312 NA 4.053261 1247 13 114542957 114542957 C G ncRNA_intronic GAS6-AS1 NA NA NA intronic ENSG00000183087 NA NA NA NA NA 13q34 NA NA NA NA rs9604489 0.28 0.28 0.276 0.291334 0.2803 0.2431 0.2695 0.2564 0.4151 0.28 0.25 0.27 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216644 NA NA NA NA NA 0.275 NA 4.0530333 1247 9 5765648 5765648 G A intronic KIAA1432 NA NA NA UTR3 ENSG00000099219 ENST00000462592:c.*224C>T NA NA NA NA 9p24.1 NA NA NA NA rs41280733 0.02 0.02 0.011 0.0133786 0.0378 NA 0.0288 NA 0.0092 0.04 NA 0.04 NA 0.0305 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498921 NA NA 0.045465 0.010667 NA 0.007 NA 4.0529017 1247 14 70809496 70809496 A G intronic COX16,SYNJ2BP-COX16 NA NA NA ncRNA_intronic ENSG00000258644 NA NA NA NA NA 14q24.2 NA NA NA NA rs72733767 0.04 0.04 0.039 0.0321486 0.1064 0.005 0.0331 0.0045 0.0204 0.1 0.0017 0.04 0.01 0.0738 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577915 NA NA 0.100233 0.021571 NA 0.08 NA 4.0529003 1247 19 5784314 5784314 G A intronic PRR22 NA NA NA UTR3 ENSG00000212123,ENSG00000267157 ENST00000390672:c.*49C>T;ENST00000586012:c.*49C>T NA NA NA NA 19p13.3 NA NA NA NA rs10410693 0.14 0.14 0.123 0.153554 0.1143 0.2163 0.0677 0.1732 0.1636 0.11 0.16 0.12 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907856 NA NA NA NA NA 0.181 NA 4.0523667 1247 2 234775941 234775941 A G ncRNA_exonic MSL3P1 NA NA NA ncRNA_exonic ENSG00000224287 NA NA NA NA NA 2q37.1 NA NA NA NA rs213545 0.62 0.62 0.619 0.556709 0.6143 0.7232 0.6153 0.4244 0.4632 0.63 0.77 0.61 0.42 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029354 NA NA NA NA NA 0.703 NA 4.0523666 1247 3 156528401 156528401 G A ncRNA_exonic PA2G4P4 NA NA NA ncRNA_exonic ENSG00000230457 NA NA NA NA NA 3q25.31 NA NA NA NA rs9812169 0.62 0.62 0.569 0.608626 0.6153 0.8433 0.6657 0.3245 0.7035 0.61 0.84 0.7 0.36 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050619 NA NA NA NA NA 0.565 NA 4.0513666 1247 11 89224326 89224326 G A intronic NOX4 NA NA NA intronic ENSG00000086991 NA NA NA NA NA 11q14.3 NA Name=YY1_(C-20) Name=92 NA rs10830279 0.45 0.45 0.42 0.414537 0.6839 0.3313 0.5331 0.1384 0.5123 0.68 0.35 0.52 0.17 0.5791 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.314146 1.314146 NA 0.685741 0.246479 NA 0.493 NA 4.051259 1247 1 168282261 168282261 T A UTR3 TBX19 NM_005149:c.*21T>A NA NA UTR3 ENSG00000143178 ENST00000367821:c.*21T>A,ENST00000431969:c.*21T>A,ENST00000441464:c.*21T>A NA NA NA NA 1q24.2 NA NA Name=17 NA rs3885717 0.44 0.44 0.457 0.489417 0.4185 0.4504 0.4452 0.5726 0.5215 0.4 0.46 0.44 0.49 0.4453 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058 NA NA 0.418334 0.53064 NA 0.457 NA 4.0511994 1247 15 81638646 81638646 G A intronic TMC3 NA NA NA ncRNA_intronic ENSG00000259343 NA NA NA NA NA 15q25.1 NA NA NA NA rs35379895 0.21 0.21 0.202 0.274161 0.1491 0.2986 0.2939 0.1921 0.4744 0.15 0.31 0.22 0.18 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102867 NA NA 0.133878 0.175578 ID=COSN165013;OCCURENCE=1(breast) 0.283 NA 4.0503553 1247 5 96112005 96112005 C T UTR3 ERAP1 NM_001198541:c.*95G>A,NM_001040458:c.*95G>A NA NA UTR3 ENSG00000164307 ENST00000443439:c.*95G>A NA NA NA NA 5q15 NA NA NA NA rs10515248 0.06 0.06 0.042 0.0595048 0.1372 NA 0.1138 0.0053 0.0757 0.13 NA 0.12 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.588465 2.588465 NA 0.14582 0.018786 NA 0.159 NA 4.0503134 1247 13 114542942 114542942 C T ncRNA_intronic GAS6-AS1 NA NA NA intronic ENSG00000183087 NA NA NA NA NA 13q34 NA NA NA NA rs9604490 0.26 0.26 0.247 0.290535 0.2833 0.244 0.2637 0.2549 0.4131 0.28 0.25 0.27 0.24 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096799 NA NA NA NA NA 0.275 NA 4.0500333 1247 9 139926402 139926402 T C intronic C9orf139,FUT7 NA NA NA intronic ENSG00000180539,ENSG00000180549 NA NA NA NA NA 9q34.3 NA Name=GABP Name=7 NA rs7469569 0.63 0.63 0.718 0.699481 0.6292 0.7679 0.6037 0.7148 0.7485 0.6 0.72 0.59 0.63 0.6717 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08748 NA NA 0.649511 0.700227 NA 0.239 NA 4.049589 1247 7 111372244 111372244 G T intronic DOCK4 NA NA NA intronic ENSG00000128512 NA NA NA NA NA 7q31.1 NA Name=GATA-2 NA NA rs12705796 0.22 0.22 0.219 0.217851 0.3191 0.0208 0.2205 0.261 0.2566 0.32 0.02 0.27 0.27 0.2898 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.758325 2.758325 NA 0.341726 0.27022 NA 0.297 NA 4.049374 1247 22 32547012 32547012 G A intronic C22orf42 NA NA NA intronic ENSG00000205856 NA NA NA NA NA 22q12.3 NA NA Name=5 NA rs3888536 0.22 0.22 0.213 0.302516 0.326 0.1409 0.2075 0.4198 0.3538 0.28 0.1 0.21 0.3 0.2969 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073527 NA NA 0.328256 0.376986 NA 0.312 NA 4.048844 1247 9 127956805 127956805 C G intergenic PPP6C,RABEPK dist=4587;dist=6016 NA NA downstream ENSG00000235332 NA NA NA NA NA 9q33.3 NA NA Name=8 NA rs359585 0.45 0.45 0.431 0.45607 0.4513 0.5446 0.3473 0.4682 0.4305 0.42 0.55 0.38 0.43 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.006749 NA NA NA NA NA 0.435 NA 4.0487 1247 12 31131712 31131712 T C intronic TSPAN11 NA NA NA intronic ENSG00000110900 NA NA NA NA NA 12p11.21 NA NA Name=24 NA rs35097 0.9 0.9 0.894 0.898163 0.9513 0.9058 0.9352 0.8033 0.9376 0.95 0.91 0.94 0.79 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146269 NA NA NA NA NA 0.891 NA 4.0487 1247 6 31084075 31084075 G C exonic CDSN NA synonymous SNV CDSN:NM_001264:exon2:c.C1317G:p.S439S exonic ENSG00000204539 NA synonymous SNV ENSG00000204539:ENST00000376288:exon2:c.C1317G:p.S439S NA NA 6p21.33 NA NA NA NA rs3130982 0.62 0.62 0.581 0.631989 0.5477 0.7034 0.6138 0.702 0.5634 0.53 0.68 0.62 0.68 0.5624 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159988 NA NA 0.508372 0.661825 NA 0.507 NA 4.0481946 1247 16 69959223 69959223 G A UTR5 WWP2 NM_199424:c.-4811G>A NA NA UTR5 ENSG00000198373 ENST00000568684:c.-4811G>A NA NA NA NA 16q22.1 NA NA NA NA rs2270838 0.45 0.45 0.442 0.496406 0.2853 0.4643 0.4092 0.7519 0.4632 0.27 0.45 0.43 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631364 NA NA NA NA NA 0.464 NA 4.0480334 1247 2 112698388 112698388 G A intronic MERTK NA NA NA ncRNA_exonic ENSG00000225496 NA NA NA NA NA 2q13 NA NA NA NA rs11674226 0.16 0.16 0.163 0.170527 0.2853 0.1726 0.1844 0.0287 0.2321 0.25 0.12 0.22 0.02 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.836378 NA NA NA NA NA 0.188 NA 4.0480333 1247 3 68587884 68587884 A C intronic FAM19A1 NA NA NA intronic ENSG00000183662 NA NA NA NA NA 3p14.1 NA NA Name=2 NA rs3828366 0.22 0.22 0.201 0.21266 0.333 0.123 0.3617 0.1725 0.1299 0.32 0.08 0.36 0.15 0.2834 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825529 NA NA 0.335862 0.190329 NA 0.181 NA 4.047738 1247 11 67554590 67554590 A G intergenic ALDH3B2,FAM86C2P dist=105905;dist=4648 NA NA ncRNA_exonic ENSG00000227620 NA NA NA NA NA 11q13.2 Score=900;Name=V$CEBPA_01 NA NA NA rs10896226 0.98 0.98 0.98 0.966054 0.9523 0.997 0.9726 0.9622 0.9489 0.99 0.99 0.98 0.96 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221913 NA NA NA NA NA 0.971 NA 4.0477 1247 17 7658029 7658029 G T ncRNA_exonic RPL29P2 NA NA NA ncRNA_exonic ENSG00000240480 NA NA NA NA NA 17p13.1 NA NA NA NA rs307624 0.69 0.69 0.702 0.73103 0.6193 0.8929 0.6081 0.6551 0.8691 0.61 0.88 0.61 0.66 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518773 NA NA NA NA NA 0.696 NA 4.0473666 1247 2 187532373 187532373 T G intronic ITGAV NA NA NA ncRNA_intronic ENSG00000227227 NA NA NA NA NA 2q32.1 NA NA NA NA rs2595391 0.05 0.05 0.039 0.0597045 0.0944 0.003 0.0533 0.0386 0.1155 0.1 0.0017 0.05 0.03 0.0852 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.413632 3.413632 NA 0.106628 0.061961 NA 0.036 NA 4.0471053 1247 22 30414091 30414091 C T intronic MTMR3 NA NA NA ncRNA_intronic ENSG00000227117 NA NA NA NA NA 22q12.2 NA NA NA NA rs11705418 0.09 0.09 0.083 0.0916534 0.0895 0.0794 0.1009 0.0726 0.1258 0.1 0.08 0.09 0.08 0.1052 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162279 NA NA 0.091744 0.069678 NA 0.072 NA 4.0468893 1247 7 100550079 100550079 A C intergenic ACHE,MUC12 dist=56538;dist=62825 NA NA exonic ENSG00000228273 NA synonymous SNV ENSG00000228273:ENST00000379458:exon2:c.A660C:p.S220S NA NA 7q22.1 NA NA NA NA rs28379747 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4539 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44662 NA NA NA NA NA 0.42 NA 4.0461 1247 11 1101649 1101649 T C exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon43:c.T7650C:p.P2550P exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000441003:exon42:c.T7662C:p.P2554P NA NA 11p15.5 NA NA NA NA rs7480563 0.7 0.7 0.679 0.697284 0.5219 0.9931 0.6196 0.6808 0.6503 0.53 1 0.57 0.7 0.5819 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075868 NA NA 0.517102 0.618579 ID=COSM428399;OCCURENCE=1(breast) 0.572 NA 4.0457646 1247 1 100671866 100671866 T A intronic DBT NA NA NA intronic ENSG00000137992 NA NA NA NA NA 1p21.2 NA NA NA NA rs34229137 0.24 0.24 NA 0.268371 0.3877 0.25 0.4251 0.0772 0.3119 0.31 0.19 0.35 0.08 0.3586 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336877 NA NA 0.207984 0.053482 NA 0.196 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079929.1|RCV000124663.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.045716 1247 5 162866548 162866548 T C intronic CCNG1 NA NA NA intronic ENSG00000113328,ENSG00000268800 NA NA NA NA NA 5q34 NA Name=MafK_(ab50322) NA NA rs299322 0.43 0.43 0.446 0.423522 0.3002 0.5377 0.3314 0.5961 0.2648 0.32 0.53 0.35 0.54 0.3575 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601324 NA NA 0.296697 0.560145 NA 0.435 NA 4.045603 1248 8 21895146 21895146 A G downstream NPM2 NA NA NA downstream ENSG00000158806 NA NA NA NA NA 8p21.3 NA Name=CTCF,TCF4 Name=2 NA rs11992609 0.46 0.46 0.414 0.451278 0.5149 0.4147 0.6268 0.2625 0.5542 0.51 0.43 0.61 0.29 0.5523 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12697 NA NA 0.554997 0.307078 NA 0.42 NA 4.0444696 1248 11 118037564 118037564 G A UTR3 SCN2B NM_004588:c.*38C>T NA NA UTR3 ENSG00000149575 ENST00000278947:c.*38C>T NA NA NA NA 11q23.3 NA NA NA NA rs8192614 0.07 0.07 0.066 0.0780751 0.1054 0.0139 0.0605 0.112 0.0828 0.1 0.01 0.07 0.1 0.0908 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071931 NA NA 0.092761 0.102955 NA 0.043 NA 4.0443724 1248 10 106907440 106907440 C T exonic SORCS3 NA synonymous SNV SORCS3:NM_014978:exon9:c.C1368T:p.N456N exonic ENSG00000156395 NA synonymous SNV ENSG00000156395:ENST00000369701:exon9:c.C1368T:p.N456N NA NA 10q25.1 NA NA NA NA rs791125 0.49 0.49 0.479 0.489018 0.5467 0.3492 0.6268 0.4803 0.4877 0.54 0.32 0.64 0.52 0.531 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830927 NA NA 0.545116 0.486382 NA 0.355 NA 4.0438506 1248 12 31255263 31255263 G A intronic DDX11 NA NA NA exonic ENSG00000013573 NA unknown UNKNOWN NA NA 12p11.21 NA NA NA NA rs10771803 0.6 0.6 0.602 0.661142 0.492 0.8105 0.6412 0.7201 0.6155 0.39 0.79 0.55 0.72 0.5334 0.79 . . . . . . . . 1.000 P . . . . -1.019 T 0.000 T . 1.959 12.51 -0.148 -0.612 0.599 4.893 1.9591 1.9591 NA 0.43093 0.671584 NA 0.362 NA 4.04367 1248 9 74834384 74834384 C T intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA Score=446;Name=lod=87 NA 9q21.13 NA NA NA NA rs10869148 0.34 0.34 0.331 0.335863 0.3101 0.5377 0.3084 0.1687 0.3998 0.31 0.55 0.29 0.16 0.3277 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704604 NA NA 0.318605 0.207766 NA 0.246 NA 4.043595 1248 4 190903688 190903688 C T intergenic FRG1,LOC100288255 dist=19329;dist=41835 NA NA ncRNA_exonic ENSG00000251297 NA NA NA Score=847;Name=lod=3675 NA 4q35.2 NA NA NA NA rs2077107 0.31 0.31 0.317 0.285942 0.333 0.2619 0.2421 0.292 0.2853 0.34 0.27 0.31 0.33 0.2952 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070604 NA 1 0.328605 0.291875 NA 0.275 NA 4.043195 1248 8 38876468 38876468 C T intronic ADAM9 NA NA NA intronic ENSG00000168615 NA NA NA Score=295;Name=lod=21 NA 8p11.22 NA NA NA NA rs6474519 0.47 0.47 0.028 0.455072 0.4672 0.7282 0.5231 0.2859 0.3415 0.43 0.65 0.49 0.3 0.4559 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746438 NA NA 0.034419 0.021108 NA NA NA 4.042481 1248 8 142221874 142221874 A G intronic SLC45A4 NA NA NA UTR3 ENSG00000022567 ENST00000519067:c.*416T>C NA NA NA NA 8q24.3 NA NA NA NA rs3739239 0.16 0.16 0.134 0.16234 0.1243 0.3552 0.1239 0.0159 0.228 0.1 0.35 0.15 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183615 NA NA NA NA NA 0.116 NA 4.0423667 1248 1 57395020 57395020 A G UTR3 C8B NM_000066:c.*57T>C NA NA UTR3 ENSG00000021852 ENST00000371237:c.*57T>C,ENST00000543257:c.*57T>C NA NA NA NA 1p32.2 NA NA NA NA rs2795 0.34 0.34 0.287 0.367212 0.2913 0.5218 0.4107 0.1861 0.5 0.3 0.49 0.36 0.21 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.302199 2.302199 NA NA NA NA 0.123 NA 4.0420334 1248 14 24760009 24760009 G A UTR3 DHRS1 NM_001136050:c.*56C>T,NM_138452:c.*56C>T NA NA UTR3 ENSG00000157379 ENST00000288111:c.*56C>T,ENST00000396813:c.*56C>T,ENST00000558340:c.*792C>T NA NA NA NA 14q12 NA NA NA NA rs4568 0.4 0.4 0.386 0.440895 0.2913 0.7143 0.2839 0.3404 0.5603 0.28 0.69 0.31 0.3 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070753 NA NA NA NA NA 0.261 NA 4.0420334 1248 5 118890915 118890915 A G intergenic HSD17B4,FAM170A dist=12885;dist=74339 NA NA downstream ENSG00000249919 NA NA NA Score=295;Name=lod=21 NA 5q23.1 NA NA NA NA rs246965 0.44 0.44 0.449 0.437101 0.4583 0.4901 0.3631 0.3638 0.5123 0.44 0.52 0.4 0.39 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372751 NA NA NA NA NA 0.471 NA 4.0417 1248 11 121489416 121489416 G A intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA Name=15 NA rs1784933 0.77 0.77 0.746 0.769968 0.9583 0.6964 0.8329 0.5499 0.9049 0.96 0.66 0.83 0.57 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956121 NA NA NA NA NA 0.761 NA 4.0417 1248 19 4333666 4333666 T C intronic STAP2 NA NA NA intronic ENSG00000178078 NA NA NA NA NA 19p13.3 NA Name=USF-1 NA NA rs10413905 0.4 0.4 0.372 0.371206 0.3012 0.5982 0.3228 0.4123 0.1881 0.3 0.59 0.3 0.4 0.3309 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814963 NA NA 0.326279 0.379709 NA 0.326 NA 4.041621 1248 16 29906546 29906546 C T intronic SEZ6L2 NA NA NA intronic ENSG00000174938 NA NA NA NA Name=Response to taxane treatment (placlitaxel) 16p11.2 NA NA NA NA rs4787484 0.29 0.29 0.252 0.249401 0.328 0.4077 0.2248 0.1498 0.1575 0.34 0.38 0.25 0.12 0.2945 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607892 NA NA 0.33593 0.145426 NA 0.174 NA 4.04157 1248 22 39064209 39064209 G A intronic CBY1 NA NA NA ncRNA_exonic ENSG00000228274 NA NA NA NA NA 22q13.1 NA NA NA NA rs2072795 0.31 0.31 0.309 0.285144 0.2922 0.3502 0.2032 0.289 0.2638 0.3 0.38 0.23 0.31 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204116 NA NA NA NA NA 0.326 NA 4.0411333 1248 14 21945415 21945415 A G UTR5 TOX4 NM_014828:c.-23A>G NA NA UTR5 ENSG00000092203 ENST00000405508:c.-23A>G,ENST00000262709:c.-23A>G,ENST00000455393:c.-23A>G,ENST00000448790:c.-23A>G,ENST00000457430:c.-23A>G,ENST00000447695:c.-23A>G,ENST00000455138:c.-23A>G NA NA NA NA 14q11.2 NA Name=FOXA1_(SC-101058),ELF1_(SC-631),Rad21,NF-YB,HNF4G_(SC-6558),p300,CTCF,CHD2_(N-1250),MafK_(SC-477),NF-YA,TAF1,ETS1,GABP,Pol2(phosphoS2),HNF4A,Pol2,SP1,PU.1,BRCA1_(C-1863),YY1_(C-20),NFKB,HEY1,ZBTB7A_(SC-34508),c-Myc,USF-1,IRF1,TBP,FOSL2,NANOG_(SC-33759),Egr-1,RFX5_(N-494),ZNF263,Pol2-4H8,Sin3Ak-20 NA NA rs2282046 0.39 0.39 0.364 0.401757 0.4364 0.2649 0.4236 0.4531 0.4223 0.44 0.26 0.44 0.45 0.4189 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824356 NA NA 0.437209 0.423967 NA 0.406 NA 4.0408244 1248 8 27319292 27319292 A G intronic CHRNA2 NA NA NA intronic ENSG00000120903 NA NA NA NA NA 8p21.2 NA Name=HNF4A,CTCF,Rad21,HNF4G_(SC-6558),CTCF_(SC-5916),Pol2-4H8,HNF4A_(H-171) NA NA rs735421 0.25 0.25 0.225 0.235224 0.333 0.2579 0.3127 0.0976 0.2423 0.33 0.23 0.32 0.12 0.3067 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.035066 NA NA 0.319651 0.140263 NA 0.217 NA 4.040649 1248 20 17459928 17459928 A T intronic PCSK2 NA NA NA ncRNA_exonic ENSG00000232241 NA NA NA NA NA 20p12.1 NA NA NA NA rs3790336 0.39 0.39 0.378 0.382588 0.2932 0.3512 0.3228 0.6014 0.2536 0.3 0.36 0.31 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001695 NA NA NA NA NA 0.341 NA 4.0401333 1248 22 39066820 39066820 C T intronic CBY1 NA NA NA ncRNA_exonic ENSG00000228274 NA NA NA NA NA 22q13.1 NA NA NA NA rs3761454 0.31 0.31 0.319 0.285743 0.2932 0.3512 0.2032 0.2897 0.2638 0.3 0.38 0.23 0.31 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060242 NA NA NA NA NA 0.333 NA 4.0401333 1248 9 130286150 130286150 A G intronic FAM129B NA NA NA intronic ENSG00000136830 NA NA NA NA NA 9q33.3 NA Name=Ini1 Name=2 NA rs2251409 0.58 0.58 0.547 0.570088 0.6799 0.3661 0.6888 0.5983 0.545 0.69 0.36 0.67 0.61 0.6294 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717094 NA NA 0.650581 0.639582 NA 0.565 NA 4.040119 1248 7 142148878 142148878 T C intergenic LOC730441,MTRNR2L6 dist=176810;dist=225253 NA NA downstream ENSG00000211725 NA NA NA NA NA 7q34 NA NA Name=2 NA rs370978147 NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.4599 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625006 NA NA NA NA NA 0.014 NA 4.0401 1248 10 115423094 115423094 G C intronic NRAP NA NA NA intronic ENSG00000197893 NA NA NA NA NA 10q25.3 NA NA Name=11 NA rs12770981 0.3 0.3 0.284 0.302716 0.332 0.4028 0.2795 0.1732 0.3609 0.31 0.41 0.31 0.17 0.3172 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734349 NA NA 0.311512 0.189514 ID=COSN163764;OCCURENCE=1(breast) 0.21 NA 4.039288 1248 10 5952854 5952854 C T intronic FBXO18 NA NA NA intronic ENSG00000134452 NA NA NA NA NA 10p15.1 NA NA Name=12 NA rs7067928 0.23 0.23 0.226 0.193091 0.3479 0.0317 0.2089 0.2428 0.1217 0.36 0.02 0.27 0.24 0.273 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064257 NA NA 0.339884 0.241489 NA 0.261 NA 4.039216 1248 17 3632952 3632952 C T intronic ITGAE NA NA NA ncRNA_intronic ENSG00000262358 NA NA NA NA NA 17p13.2 NA NA NA NA rs2915554 0.22 0.22 0.22 0.250599 0.2942 0.2956 0.134 0.0507 0.5123 0.3 0.3 0.15 0.05 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927216 NA NA NA NA NA 0.268 NA 4.0391333 1248 6 133135864 133135864 T G intronic RPS12 NA NA NA intronic ENSG00000112306 NA NA NA NA NA 6q23.2 NA Name=NFKB,HEY1,PAX5-N19,TAF1,Pol2(b),GATA-1,Pol2,MEF2C_(SC-13268),BCL11A,YY1_(C-20),Pol2-4H8 NA NA rs12202302 0.32 0.32 0.273 0.339457 0.3012 0.2282 0.5303 0.3457 0.3497 0.29 0.24 0.51 0.31 0.3387 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671998 NA NA 0.321047 0.330458 NA 0.261 NA 4.039053 1248 11 94212048 94212048 C T intronic MRE11A NA NA NA intronic ENSG00000020922 NA NA NA NA NA 11q21 NA NA NA NA rs535801 0.33 0.33 0.309 0.313099 0.335 0.3859 0.3862 0.171 0.3558 0.32 0.43 0.39 0.19 0.3252 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457227 NA NA 0.30107 0.208087 NA 0.326 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117634.2;CLNDSDB=.;CLNDSDBID=. 4.03873 1248 19 50475114 50475114 G C ncRNA_intronic SIGLEC16 NA NA NA ncRNA_exonic ENSG00000161643 NA NA NA NA NA 19q13.33 NA NA NA NA rs8111526 0.48 0.48 0.473 0.495407 0.2545 0.7431 0.4251 0.5507 0.4632 0.24 0.76 0.4 0.58 0.3737 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873022 NA NA NA NA NA 0.377 NA 4.0384666 1248 12 48272743 48272743 G A intronic VDR NA NA NA UTR5;UTR3 ENSG00000111424;ENSG00000111424 ENST00000535672:c.-95C>T;ENST00000547065:c.*4C>T NA NA NA NA 12q13.11 NA NA NA NA rs10783218 0.09 0.09 0.102 0.0938498 0.0427 0.0556 0.0447 0.2163 0.0552 0.04 0.07 0.04 0.22 0.0499 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.967495 NA NA 0.036047 0.170449 NA 0.109 NA 4.0380197 1248 7 142148919 142148919 C T intergenic LOC730441,MTRNR2L6 dist=176851;dist=225212 NA NA downstream ENSG00000211725 NA NA NA NA NA 7q34 NA NA Name=2 NA rs376682174 NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.4611 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731095 NA NA NA NA NA 0.007 NA 4.0379 1248 4 75040944 75040944 T G intronic MTHFD2L NA NA NA intronic ENSG00000163738 NA NA NA NA NA 4q13.3 NA NA Name=15 NA rs13116686 0.76 0.76 0.731 0.721845 0.9622 0.8403 0.8905 0.2912 0.8149 0.95 0.85 0.88 0.29 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177551 NA NA NA NA NA 0.703 NA 4.0378 1248 11 9802952 9802952 A C ncRNA_intronic SBF2-AS1 NA NA NA ncRNA_intronic ENSG00000246273 NA NA NA NA NA 11p15.4 NA NA NA NA rs3763862 0.45 0.45 0.428 0.409744 0.6292 0.3522 0.5216 0.27 0.3528 0.65 0.33 0.48 0.25 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382845 NA NA NA NA NA 0.457 NA 4.0374666 1248 6 102503196 102503196 C T intronic GRIK2 NA NA NA intronic ENSG00000164418 NA NA NA NA NA 6q16.3 NA NA NA NA rs2227281 0.31 0.31 0.301 0.273762 0.332 0.3601 0.3012 0.1884 0.2209 0.36 0.35 0.27 0.21 0.3058 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413253 NA NA 0.325 0.224467 NA 0.42 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117163.2;CLNDSDB=.;CLNDSDBID=. 4.0372 1248 19 1986414 1986414 G A UTR3 BTBD2 NM_017797:c.*73C>T NA NA UTR3 ENSG00000133243 ENST00000255608:c.*73C>T NA NA NA NA 19p13.3 NA NA NA NA rs2286352 0.39 0.39 0.367 0.404553 0.2962 0.5972 0.3473 0.3737 0.3998 0.29 0.56 0.34 0.38 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242608 NA NA NA NA NA 0.435 NA 4.0371334 1248 19 52471769 52471769 C T intronic ZNF350 NA NA NA ncRNA_intronic ENSG00000269235 NA NA NA NA NA 19q13.41 NA NA NA NA rs2278417 0.38 0.38 0.415 0.457867 0.2962 0.2966 0.3012 0.6762 0.6063 0.31 0.27 0.33 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635506 NA NA NA NA NA 0.435 NA 4.0371333 1248 5 32523343 32523343 C T intergenic ZFR,SUB1 dist=78499;dist=62262 NA NA ncRNA_exonic ENSG00000249142 NA NA NA Score=593;Name=lod=344 NA 5p13.3 NA NA NA NA rs2457151 0.88 0.88 0.889 0.878195 0.9632 0.7679 0.9265 0.8464 0.9131 0.97 0.77 0.93 0.85 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.643112 1.643112 NA NA NA NA 0.913 NA 4.0368 1248 7 66010577 66010577 C T intergenic LINC00174,LOC493754 dist=145182;dist=7976 NA NA downstream ENSG00000232559,ENSG00000234500 NA NA NA Score=472;Name=lod=110 NA 7q11.21 NA NA NA NA rs801217 0.46 0.46 0.456 0.457069 0.4632 0.2669 0.4539 0.6868 0.3384 0.45 0.24 0.46 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73411 NA NA NA NA NA 0.413 NA 4.0368 1248 14 106209031 106209031 G A intergenic ELK2AP,KIAA0125 dist=69887;dist=174807 NA NA intronic ENSG00000211896 NA NA NA NA NA 14q32.33 NA Name=Pol2 NA NA rs10139901 0.29 0.29 0.292 0.262979 0.6302 0.0159 0.3804 0.0234 0.3804 0.62 0.01 0.4 0.02 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051498 NA NA NA NA NA 0.333 NA 4.0364667 1248 7 142099421 142099421 G A intergenic LOC730441,MTRNR2L6 dist=127353;dist=274710 NA NA downstream ENSG00000229200 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA 0.4638 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736889 NA NA NA NA NA NA NA 4.0362 1248 5 178349297 178349297 C A intronic ZFP2 NA NA NA ncRNA_exonic ENSG00000253869 NA NA NA NA NA 5q35.3 NA NA NA NA rs17663795 0.27 0.27 0.252 0.27516 0.2972 0.3532 0.2709 0.1029 0.408 0.3 0.37 0.28 0.1 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381022 NA NA NA NA NA 0.188 NA 4.0361333 1248 22 39141600 39141600 G A intronic SUN2 NA NA NA ncRNA_intronic ENSG00000225450 NA NA NA NA NA 22q13.1 NA NA NA NA rs138712 0.38 0.38 0.404 0.363419 0.2972 0.4573 0.2046 0.4826 0.2863 0.31 0.49 0.23 0.47 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130688 NA NA NA NA NA 0.37 NA 4.0361333 1248 2 169789016 169789016 T C exonic ABCB11 NA synonymous SNV ABCB11:NM_003742:exon24:c.A3084G:p.A1028A exonic ENSG00000073734 NA synonymous SNV ENSG00000073734:ENST00000263817:exon24:c.A3084G:p.A1028A NA NA 2q31.1 NA NA NA NA rs497692 0.48 0.48 0.44 0.496805 0.5318 0.6409 0.5086 0.2254 0.6708 0.53 0.62 0.51 0.22 0.5557 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.57433 NA NA 0.544107 0.268062 ID=COSM148984;OCCURENCE=1(stomach) 0.348 NA 4.0350596 1249 1 227069737 227069737 C T exonic PSEN2 NA synonymous SNV PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N exonic ENSG00000143801 NA synonymous SNV ENSG00000143801:ENST00000496965:exon1:c.C129T:p.N43N,ENSG00000143801:ENST00000391872:exon2:c.C228T:p.N76N,ENSG00000143801:ENST00000495488:exon3:c.C129T:p.N43N,ENSG00000143801:ENST00000340188:exon4:c.C129T:p.N43N,ENSG00000143801:ENST00000366782:exon4:c.C228T:p.N76N,ENSG00000143801:ENST00000366783:exon4:c.C129T:p.N43N,ENSG00000143801:ENST00000422240:exon4:c.C129T:p.N43N NA NA 1q42.13 NA NA NA NA rs6759 0.48 0.48 0.469 0.443291 0.5934 0.3859 0.4827 0.3646 0.4264 0.6 0.41 0.53 0.35 0.4995 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51489 NA NA 0.538846 0.393327 NA 0.587 NA 4.0349206 1249 1 36923494 36923494 G C intronic MRPS15 NA NA NA intronic ENSG00000116898 NA NA NA NA NA 1p34.3 NA NA Name=15 NA rs12023818 0.2 0.2 0.172 0.225439 0.33 0.121 0.2003 0.1067 0.4039 0.33 0.09 0.25 0.1 0.2994 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563195 NA NA 0.335698 0.16069 NA 0.145 NA 4.034902 1249 19 36223111 36223111 C G intronic MLL4 NA NA NA ncRNA_intronic ENSG00000105663 NA NA NA NA NA 19q13.12 NA NA NA NA rs61351824 NA NA NA 0.0319489 0.0875 NA 0.0519 0.0053 0.0297 NA NA NA NA 0.1006 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540597 NA NA 0.111327 0.020502 NA 0.014 NA 4.0339063 1249 9 77668969 77668969 G C intergenic C9orf41,NMRK1 dist=25659;dist=7147 NA NA intergenic ENSG00000156017,ENSG00000106733 dist=25630;dist=6520 NA NA NA NA 9q21.13 NA Name=PAX5-C20,PU.1 Name=5 NA rs773145 0.52 0.52 0.563 0.516174 0.4394 0.5744 0.4798 0.652 0.3773 0.42 0.6 0.43 0.64 0.4521 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06765 NA NA 0.408086 0.638128 NA 0.493 NA 4.0337474 1249 7 76255019 76255019 T C ncRNA_intronic LOC100133091 NA NA NA ncRNA_intronic ENSG00000205485 NA NA NA NA NA 7q11.23 NA NA NA NA rs56046726 0.18 0.18 0.154 0.188299 0.2097 0.2272 0.2637 0.0408 0.272 0.2 0.21 0.24 0.04 0.2139 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418309 NA NA 0.209535 0.083976 NA 0.109 NA 4.0335316 1249 7 142148881 142148881 C A intergenic LOC730441,MTRNR2L6 dist=176813;dist=225250 NA NA downstream ENSG00000211725 NA NA NA NA NA 7q34 NA NA Name=2 NA rs374566766 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4667 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886106 NA NA NA NA NA 0.014 NA 4.0333 1249 2 141571329 141571329 T C exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon32:c.A5256G:p.S1752S exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon32:c.A5256G:p.S1752S NA NA 2q22.1 Score=766;Name=V$STAT1_01 NA NA NA rs3749010 0.86 0.86 0.853 0.845248 0.8748 0.9871 0.7709 0.6974 0.9213 0.88 0.98 0.8 0.74 0.8708 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120155 NA NA 0.887791 0.737857 NA 0.797 NA 4.0332756 1249 5 74324437 74324437 G A UTR3 GCNT4 NM_016591:c.*64C>T NA NA UTR3 ENSG00000176928 ENST00000322348:c.*64C>T NA NA NA NA 5q13.3 NA NA NA NA rs3811986 0.41 0.41 0.415 0.436701 0.3002 0.2897 0.3732 0.7504 0.3497 0.31 0.28 0.34 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457962 NA NA NA NA NA 0.442 NA 4.0331334 1249 11 61548559 61548559 A G intronic MYRF NA NA NA intronic ENSG00000124920 NA NA NA NA NA 11q12.2 NA Name=CTCF,c-Myc Name=3 NA rs509360 0.5 0.5 0.42 0.436502 0.7058 0.5744 0.7939 0.0817 0.2434 0.69 0.42 0.77 0.12 0.5878 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872707 NA NA 0.673529 0.193688 NA 0.464 NA 4.032871 1249 22 23982724 23982724 T C ncRNA_intronic GUSBP11 NA NA NA ncRNA_exonic ENSG00000234353 NA NA NA NA NA 22q11.23 NA NA NA NA rs56397271 0.72 0.72 0.725 0.7498 0.6342 0.6647 0.7378 0.9516 0.6922 0.64 0.64 0.69 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254172 NA NA NA NA NA 0.833 NA 4.0324666 1249 22 23982727 23982727 A G ncRNA_intronic GUSBP11 NA NA NA ncRNA_exonic ENSG00000234353 NA NA NA NA NA 22q11.23 NA NA NA NA rs28645846 0.72 0.72 0.737 0.7498 0.6342 0.6647 0.7378 0.9516 0.6922 0.64 0.65 0.69 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.143458 NA NA NA NA NA 0.833 NA 4.0324666 1249 7 142099425 142099425 A G intergenic LOC730441,MTRNR2L6 dist=127357;dist=274706 NA NA downstream ENSG00000229200 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA 0.4679 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064588 NA NA NA NA NA NA NA 4.0321 1249 6 31084792 31084792 C T exonic CDSN NA synonymous SNV CDSN:NM_001264:exon2:c.G600A:p.Q200Q exonic ENSG00000204539 NA synonymous SNV ENSG00000204539:ENST00000376288:exon2:c.G600A:p.Q200Q NA NA 6p21.33 NA NA NA NA rs3130983 0.62 0.62 0.594 0.646965 0.5487 0.7113 0.6138 0.7065 0.6247 0.53 0.68 0.62 0.68 0.5765 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101417 NA NA 0.509651 0.662279 NA 0.572 NA 4.0318156 1249 6 31084684 31084684 G A exonic CDSN NA synonymous SNV CDSN:NM_001264:exon2:c.C708T:p.S236S exonic ENSG00000204539 NA synonymous SNV ENSG00000204539:ENST00000376288:exon2:c.C708T:p.S236S NA NA 6p21.33 NA NA NA NA rs3094215 0.62 0.62 0.587 0.646965 0.5487 0.7113 0.6138 0.7065 0.6247 0.53 0.68 0.62 0.68 0.5772 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.467004 NA NA 0.50907 0.661371 NA 0.565 NA 4.0316966 1249 9 138012070 138012070 G A UTR3 OLFM1 NM_014279:c.*46G>A NA NA UTR3 ENSG00000130558 ENST00000252854:c.*46G>A,ENST00000371796:c.*46G>A,ENST00000371793:c.*46G>A NA NA NA NA 9q34.3 NA NA NA NA rs11103684 0.06 0.06 0.066 0.0593051 0.1054 NA 0.0793 0.0575 0.0613 0.09 NA 0.09 0.05 0.0891 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015755 NA NA 0.107674 0.080118 NA 0.029 NA 4.0311594 1249 7 138087882 138087882 A G intergenic MIR4468,TRIM24 dist=279315;dist=57197 NA NA intergenic ENSG00000213238,ENSG00000213237 dist=104653;dist=1058 NA NA Score=562;Name=lod=256 NA 7q33 NA NA NA NA rs374284 0.27 0.27 0.219 0.259385 0.3032 0.3968 0.2666 0.0613 0.3354 0.31 0.39 0.27 0.06 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56354 NA NA NA NA NA 0.217 NA 4.0301334 1249 6 160206631 160206631 T C ncRNA_exonic SNORA29 NA NA NA ncRNA_exonic ENSG00000206910 NA NA NA NA NA 6q25.3 NA NA Name=3 NA rs3818299 0.39 0.39 0.365 0.392173 0.5437 0.1637 0.6081 0.2648 0.4908 0.55 0.15 0.59 0.27 0.527 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091532 NA NA 0.566298 0.29395 NA 0.348 NA 4.0296686 1249 8 41519462 41519462 A G intronic ANK1 NA NA NA ncRNA_intronic ENSG00000253389 NA NA NA Score=423;Name=lod=70 Name=Type 2 diabetes 8p11.21 NA NA NA NA rs515071 0.78 0.78 0.768 0.786342 0.7674 0.8155 0.7853 0.7625 0.8088 0.79 0.8 0.74 0.76 0.7805 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384411 NA NA 0.756628 0.736723 NA 0.717 NA 4.0288053 1249 1 202536848 202536848 C T intronic PPP1R12B NA NA NA intronic ENSG00000077157 NA NA NA NA NA 1q32.1 NA NA Name=86 NA rs2292489 0.47 0.47 0.431 0.475839 0.4861 0.7242 0.6009 0.1172 0.6053 0.51 0.7 0.54 0.11 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587397 NA NA 0.485229 0.182081 NA 0.435 NA 4.028671 1249 22 36907098 36907098 T C intronic EIF3D NA NA NA intronic ENSG00000100353 NA NA NA NA NA 22q12.3 NA Name=Pol2-4H8,CTCF,Rad21 Name=130 NA rs728785 0.51 0.51 0.468 0.457867 0.668 0.2103 0.7147 0.447 0.3292 0.67 0.25 0.72 0.43 0.6014 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889064 NA NA 0.702326 0.475261 NA 0.572 NA 4.028274 1249 8 24358219 24358219 A G intronic ADAM7 NA NA NA ncRNA_intronic ENSG00000253535,ENSG00000253643 NA NA NA NA NA 8p21.2 NA NA NA NA rs17739399 0.27 0.27 0.241 0.285942 0.3052 0.1915 0.4323 0.1755 0.409 0.31 0.2 0.42 0.17 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.056799 NA NA NA NA NA 0.203 NA 4.0281333 1249 1 186151493 186151493 C G ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs16825040 0.24 0.24 0.238 0.228435 0.3062 0.0923 0.1787 0.3192 0.2014 0.32 0.07 0.25 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25653 NA NA NA NA NA 0.123 NA 4.0271333 1249 12 20705540 20705540 C T intronic PDE3A NA NA NA ncRNA_exonic ENSG00000256663 NA NA NA NA NA 12p12.2 NA NA NA NA rs73075198 0.2 0.2 0.161 0.189896 0.3062 0.2321 0.1499 0.0197 0.2853 0.3 0.24 0.14 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430119 NA NA NA NA NA 0.181 NA 4.0271333 1249 6 152629617 152629617 C T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9383985 0.33 0.33 0.309 0.304313 0.326 0.5962 0.2608 0.0522 0.3528 0.33 0.6 0.27 0.06 0.3236 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103004 NA NA 0.323488 0.093282 NA 0.254 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118452.2;CLNDSDB=.;CLNDSDBID=. 4.026912 1249 20 34319765 34319765 A C intronic RBM39 NA NA NA UTR3 ENSG00000131051 ENST00000426951:c.*97T>G NA NA NA NA 20q11.22 NA NA NA NA rs2425111 0.17 0.17 0.174 0.195687 0.1402 0.1319 0.1614 0.3321 0.1585 0.13 0.12 0.19 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487707 NA NA NA NA NA 0.174 NA 4.0264667 1249 1 25890189 25890189 A G exonic LDLRAP1 NA synonymous SNV LDLRAP1:NM_015627:exon7:c.A654G:p.T218T exonic ENSG00000157978 NA synonymous SNV ENSG00000157978:ENST00000374338:exon7:c.A654G:p.T218T NA NA 1p36.11 NA NA NA NA rs28969504 0.59 0.59 0.604 0.586262 0.5338 0.4435 0.5951 0.829 0.453 0.52 0.51 0.59 0.81 0.5515 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166377 NA NA 0.555116 0.782569 NA 0.42 NA 4.0262506 1249 2 187528635 187528635 A G intronic ITGAV NA NA NA ncRNA_intronic ENSG00000227227 NA NA NA NA NA 2q32.1 NA NA NA NA rs3816386 0.25 0.25 0.245 0.260583 0.3072 0.1716 0.2781 0.1989 0.3753 0.32 0.15 0.29 0.24 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523469 NA NA NA NA ID=COSN166350;OCCURENCE=1(endometrium) 0.261 NA 4.0261333 1249 7 149509817 149509817 G T intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs740111 0.45 0.45 0.443 0.498203 0.3072 0.4296 0.4049 0.8154 0.4029 0.29 0.43 0.41 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362946 NA NA NA NA NA 0.486 NA 4.0261333 1249 22 41613303 41613303 C T intronic L3MBTL2 NA NA NA ncRNA_exonic ENSG00000235513 NA NA NA NA NA 22q13.2 NA NA NA NA rs9611520 0.23 0.23 0.167 0.240216 0.3072 0.0526 0.4625 0.1112 0.3814 0.31 0.06 0.48 0.11 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518297 NA NA NA NA NA 0.29 NA 4.0261333 1249 3 143574901 143574901 A G intergenic SLC9A9,C3orf58 dist=7528;dist=115739 NA NA ncRNA_exonic ENSG00000235110 NA NA NA Score=720;Name=lod=1127 NA 3q24 NA NA NA NA rs6782974 0.97 0.97 0.97 0.970447 0.9742 1 0.9611 0.9289 0.999 0.98 1 0.95 0.94 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119126 NA 1 NA NA NA 0.957 NA 4.0258 1249 1 160136350 160136350 G A exonic ATP1A4 NA synonymous SNV ATP1A4:NM_144699:exon8:c.G1080A:p.A360A exonic ENSG00000132681 NA synonymous SNV ENSG00000132681:ENST00000368081:exon8:c.G1080A:p.A360A,ENSG00000132681:ENST00000477338:exon8:c.G1080A:p.A360A NA NA 1q23.2 NA NA NA NA rs7529215 0.47 0.47 0.423 0.468251 0.5457 0.4851 0.5375 0.2806 0.5757 0.54 0.48 0.53 0.29 0.5294 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1681 NA NA 0.56593 0.334771 NA 0.391 NA 4.0256366 1250 16 25239872 25239872 G C UTR3 AQP8 NM_001169:c.*59G>C NA NA UTR3 ENSG00000103375 ENST00000566125:c.*59G>C,ENST00000219660:c.*59G>C NA NA NA NA 16p12.1 NA NA NA NA rs2287797 0.27 0.27 0.266 0.293331 0.1581 0.3899 0.2795 0.3411 0.2781 0.15 0.38 0.22 0.36 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378736 NA NA 0.150534 0.32948 NA 0.254 NA 4.0246994 1250 22 46748310 46748310 T C intronic TRMU NA NA NA UTR3 ENSG00000100416 ENST00000424260:c.*299T>C NA NA NA NA 22q13.31 NA NA NA NA rs6008770 0.22 0.22 0.244 0.239018 0.1421 0.001 0.1167 0.6838 0.0695 0.14 NA 0.13 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287266 NA NA NA NA NA 0.225 NA 4.0245667 1250 2 102792760 102792760 A G intronic IL1R1 NA NA NA ncRNA_UTR3 ENSG00000115594 NA NA NA NA NA 2q12.1 NA NA NA NA rs3917318 0.37 0.37 0.354 0.371406 0.3091 0.4802 0.4741 0.295 0.3538 0.32 0.49 0.41 0.3 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.700709 1.700709 NA NA NA NA 0.275 NA 4.0242333 1250 14 94914340 94914340 G T intronic SERPINA11 NA NA NA ncRNA_intronic ENSG00000256357 NA NA NA NA NA 14q32.13 NA NA NA NA rs11620887 0.33 0.33 0.306 0.320687 0.3091 0.4484 0.3919 0.1619 0.365 0.32 0.46 0.37 0.18 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748046 NA NA NA NA NA 0.261 NA 4.0242333 1250 10 99205686 99205686 A G intronic EXOSC1 NA NA NA intronic ENSG00000171311 NA NA NA NA NA 10q24.1 NA Name=CTCF,CEBPB,GTF2F1_(RAP-74),CHD2_(N-1250),Max,Pol2,NRSF,SP1,YY1_(C-20),TAF7_(SQ-8),NF-YA,TAF1,USF2,TBP,IRF3,HEY1,NFKB,c-Myc,CTCF_(C-20),YY1,RFX5_(N-494),Pol2-4H8,HA-E2F1,Sin3Ak-20 NA NA rs2297666 0.29 0.29 0.244 0.242812 0.3529 0.3472 0.3401 0.0378 0.2301 0.36 0.37 0.37 0.04 0.3047 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86642 NA NA 0.318372 0.075125 NA 0.312 NA 4.024028 1250 1 35251229 35251229 G A UTR3 GJB3 NM_024009:c.*53G>A,NM_001005752:c.*53G>A NA NA ncRNA_UTR3 ENSG00000188910 NA NA NA NA NA 1p34.3 NA NA NA NA rs476220 0.43 0.43 0.441 0.403954 0.4761 0.1716 0.389 0.6551 0.2403 0.48 0.19 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752572 NA NA NA NA NA 0.399 NA 4.0239 1250 5 77080740 77080740 T C intergenic TBCA,AP3B1 dist=8555;dist=217410 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254408 0.9 0.9 0.885 0.89377 0.9761 0.6766 0.9481 0.9667 0.8957 0.98 0.69 0.96 0.97 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008741 NA NA NA NA NA 0.906 NA 4.0239 1250 5 77081608 77081608 T C intergenic TBCA,AP3B1 dist=9423;dist=216542 NA NA ncRNA_exonic ENSG00000213763 NA NA NA Score=867;Name=lod=4445 NA 5q14.1 NA NA NA NA rs254401 0.89 0.89 0.891 0.892173 0.9761 0.6766 0.9481 0.9614 0.8947 0.98 0.69 0.96 0.96 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212527 NA NA NA NA NA 0.848 NA 4.0239 1250 2 167140955 167140955 G A intronic SCN9A NA NA NA ncRNA_intronic ENSG00000236107 NA NA NA NA NA 2q24.3 NA NA NA NA rs7608201 0.12 0.12 0.109 0.115815 0.0805 0.0774 0.1873 0.1823 0.0511 0.07 0.08 0.17 0.2 0.1501 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671419 NA NA 0.078868 0.146937 NA 0.072 NA 4.0238653 1250 9 130941741 130941741 C G intronic CIZ1 NA NA NA intronic ENSG00000148337 NA NA NA NA NA 9q34.11 NA Name=KAP1 NA NA rs11788797 0.18 0.18 0.152 0.161741 0.3509 0.0129 0.2046 0.1006 0.1728 0.33 0.0035 0.22 0.12 0.2805 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.669017 1.669017 NA 0.344836 0.126991 NA 0.087 NA 4.023764 1250 17 21318629 21318629 C A UTR5 KCNJ12,KCNJ18 NM_021012:c.-26C>A;NM_001194958:c.-26C>A NA NA UTR5 ENSG00000184185 ENST00000583088:c.-26C>A,ENST00000331718:c.-26C>A NA NA NA NA 17p11.2 NA NA NA NA rs58862472 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.3096 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.785091 NA NA NA NA NA 0.014 NA 4.0237334 1250 9 113166697 113166697 T A exonic SVEP1 NA synonymous SNV SVEP1:NM_153366:exon39:c.A9576T:p.V3192V exonic ENSG00000165124 NA synonymous SNV ENSG00000165124:ENST00000297826:exon4:c.A3354T:p.V1118V,ENSG00000165124:ENST00000374469:exon39:c.A9507T:p.V3169V,ENSG00000165124:ENST00000401783:exon39:c.A9576T:p.V3192V NA NA 9q31.3 NA NA NA NA rs1410049 0.57 0.57 0.607 0.631989 0.5358 0.5188 0.4755 0.8434 0.6728 0.53 0.48 0.48 0.8 0.5613 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444728 NA NA 0.545841 0.776956 NA 0.522 NA 4.0237256 1250 19 43429796 43429796 G A intronic PSG7 NA NA NA UTR3 ENSG00000221878 ENST00000446844:c.*91C>T NA NA NA NA 19q13.31 NA NA NA NA rs57760445 0.11 0.11 0.091 0.107628 0.1431 0.003 0.2176 0.0885 0.1268 0.15 0.0017 0.21 0.12 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971929 NA NA NA NA NA 0.167 NA 4.0235667 1250 19 13015530 13015530 A G intronic SYCE2 NA NA NA intronic ENSG00000105607,ENSG00000161860 NA NA NA Score=343;Name=lod=33 NA 19p13.2 NA NA NA NA rs17706531 0.25 0.25 0.21 0.252396 0.3111 0.1498 0.4337 0.1778 0.2699 0.3 0.14 0.41 0.16 0.3231 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460512 NA NA 0.342353 0.206241 NA 0.239 NA 4.023447 1250 5 482186 482186 C G exonic SLC9A3 NA synonymous SNV SLC9A3:NM_004174:exon8:c.G1443C:p.G481G exonic ENSG00000066230 NA synonymous SNV ENSG00000066230:ENST00000264938:exon8:c.G1443C:p.G481G,ENSG00000066230:ENST00000514375:exon8:c.G1416C:p.G472G Score=463;Name=lod=102 NA 5p15.33 NA NA NA NA rs9885312 0.8 0.8 0.777 0.8123 0.8847 0.5754 0.8026 0.9811 0.7607 0.88 0.53 0.82 0.98 0.8631 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815061 NA NA 0.895557 0.959982 NA 0.442 NA 4.0233096 1250 22 31323900 31323900 G C intronic MORC2 NA NA NA ncRNA_intronic ENSG00000235989 NA NA NA NA NA 22q12.2 NA NA NA NA rs5753394 0.45 0.45 0.453 0.453474 0.3101 0.6776 0.3429 0.553 0.3139 0.3 0.61 0.38 0.55 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005796 NA NA NA NA NA 0.42 NA 4.0232333 1250 2 204305093 204305093 T C exonic RAPH1 NA synonymous SNV RAPH1:NM_213589:exon14:c.A2820G:p.P940P exonic ENSG00000173166 NA synonymous SNV ENSG00000173166:ENST00000319170:exon14:c.A2820G:p.P940P,ENSG00000173166:ENST00000374493:exon15:c.A2976G:p.P992P NA NA 2q33.2 NA NA NA NA rs3814365 0.4 0.4 0.355 0.415335 0.5577 0.3909 0.4424 0.1513 0.6319 0.55 0.32 0.5 0.18 0.5144 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.643247 NA NA 0.571628 0.220835 NA 0.399 NA 4.0229386 1250 1 199878777 199878777 G A intergenic LOC100131234,NR5A2 dist=972219;dist=117953 NA NA downstream ENSG00000229747 NA NA NA NA NA 1q32.1 NA Name=MafK_(ab50322) NA NA rs6693560 0.55 0.55 0.543 0.559505 0.4771 0.6448 0.5865 0.497 0.6217 0.49 0.66 0.54 0.51 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500246 NA NA NA NA NA 0.601 NA 4.0229 1250 4 103789810 103789810 C A intronic UBE2D3 NA NA NA intronic ENSG00000109332 NA NA NA NA NA 4q24 NA Name=GATA-1,TAF1,TAL1_(SC-12984),Pol2,Pol2-4H8,E2F6,Sin3Ak-20,HA-E2F1,BCLAF1_(M33-P5B11),TBP NA NA rs223333 0.55 0.55 0.543 0.561302 0.4881 0.502 0.5418 0.7224 0.4939 0.48 0.49 0.55 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301475 NA NA 0.489001 0.657514 NA 0.594 NA 4.022899 1250 4 74863997 74863997 T C exonic CXCL5 NA synonymous SNV CXCL5:NM_002994:exon2:c.A168G:p.Q56Q exonic ENSG00000163735 NA synonymous SNV ENSG00000163735:ENST00000296027:exon2:c.A168G:p.Q56Q NA NA 4q13.3 NA NA Name=98 NA rs425535 0.82 0.82 0.799 0.813099 0.8867 0.9643 0.8761 0.5287 0.9213 0.88 0.97 0.88 0.53 0.8694 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117372 NA NA 0.887907 0.601906 NA 0.732 NA 4.0226596 1250 6 41217087 41217087 C T upstream TREML5P NA NA NA ncRNA_exonic ENSG00000225690 NA NA NA NA NA 6p21.1 NA NA NA NA rs2004196 0.19 0.19 0.17 0.182708 0.1441 0.3909 0.1772 0.0212 0.2301 0.15 0.4 0.15 0.04 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383077 NA NA NA NA NA 0.145 NA 4.0225666 1250 3 39185248 39185248 A G exonic CSRNP1 NA synonymous SNV CSRNP1:NM_033027:exon5:c.T1068C:p.S356S exonic ENSG00000144655 NA synonymous SNV ENSG00000144655:ENST00000273153:exon5:c.T1068C:p.S356S,ENSG00000144655:ENST00000514182:exon5:c.T1068C:p.S356S NA NA 3p22.2 NA NA Name=9 NA rs784519 0.89 0.89 0.891 0.908946 0.8857 0.8948 0.9409 0.9334 0.8916 0.88 0.87 0.92 0.92 0.8847 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.627637 NA NA 0.873721 0.932138 NA 0.928 NA 4.0225456 1250 6 29761726 29761726 C T intronic LOC554223 NA NA NA ncRNA_exonic ENSG00000181126 NA NA NA NA NA 6p22.1 NA NA NA NA rs1611219 0.36 0.36 0.372 0.384784 0.3111 0.1954 0.3703 0.5991 0.3763 0.31 0.24 0.36 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960331 NA NA NA NA NA 0.399 NA 4.0222333 1250 19 12491498 12491498 C T intergenic ZNF442,ZNF799 dist=15023;dist=9330 NA NA ncRNA_exonic ENSG00000248406 NA NA NA NA NA 19p13.2 NA Name=KAP1,SETDB1 NA NA rs4804664 0.49 0.49 0.518 0.4998 0.4791 0.2847 0.4986 0.7504 0.4049 0.49 0.29 0.5 0.73 0.4988 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00582 NA NA NA NA NA 0.572 NA 4.0221 1250 1 156354293 156354293 A G intronic RHBG NA NA NA exonic ENSG00000132677 NA synonymous SNV ENSG00000132677:ENST00000451864:exon8:c.A1089G:p.S363S NA NA 1q22 NA NA NA NA rs6668731 0.41 0.41 0.426 0.423123 0.2396 0.5446 0.2911 0.6074 0.3313 0.25 0.54 0.25 0.62 0.32 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.34419 1.34419 NA 0.251872 0.530675 NA 0.442 NA 4.0218613 1250 6 139183879 139183879 G A intronic ECT2L NA NA NA intronic ENSG00000203734 NA NA NA NA NA 6q24.1 NA NA Name=4 NA rs12204850 0.25 0.25 0.226 0.218251 0.3509 0.1151 0.3948 0.1157 0.2014 0.35 0.14 0.38 0.12 0.3008 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23703 NA NA 0.326487 0.141654 ID=COSN167897;OCCURENCE=1(large_intestine) 0.246 NA 4.021813 1250 14 106236000 106236000 T C intergenic ELK2AP,KIAA0125 dist=96856;dist=147838 NA NA exonic ENSG00000211897 NA unknown UNKNOWN NA NA 14q32.33 NA NA NA NA rs141959627 0.02 0.02 0.013 0.0233626 0.0616 NA 0.0317 0.003 0.0297 0.04 0.0017 0.02 0.002 0.0366 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.904517 NA 1 0.047136 0.006559 NA 0.014 NA 4.0213307 1250 2 132240509 132240509 C A ncRNA_intronic RNU6-81P NA NA NA intronic ENSG00000173272 NA NA NA NA NA 2q21.1 NA NA NA NA rs3817560 0.54 0.54 0.542 0.574681 0.3121 0.7649 0.6282 0.7277 0.4039 0.29 0.71 0.56 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818008 NA NA NA NA NA 0.529 NA 4.0212333 1250 3 39376485 39376485 T C intergenic CCR8,SLC25A38 dist=1314;dist=48330 NA NA ncRNA_exonic ENSG00000228168 NA NA NA Score=726;Name=lod=1188 NA 3p22.2 NA NA NA NA rs2649756 0.95 0.95 0.944 0.949281 0.9791 0.9643 0.9625 0.8729 0.9969 0.98 0.97 0.97 0.88 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316525 NA NA NA NA NA 0.935 NA 4.0209 1250 3 39400941 39400941 T C intergenic CCR8,SLC25A38 dist=25770;dist=23874 NA NA ncRNA_exonic ENSG00000223668 NA NA NA Score=860;Name=lod=4149 NA 3p22.1 NA NA NA NA rs6806563 0.94 0.94 0.95 0.949281 0.9791 0.9643 0.9625 0.8729 0.9969 0.96 0.96 0.95 0.87 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.484272 2.484272 NA NA NA NA 0.928 NA 4.0209 1250 7 136849114 136849114 A T upstream LOC349160 NA NA NA ncRNA_exonic ENSG00000224469 NA NA NA NA NA 7q33 NA NA NA NA rs66709830 0.14 0.14 0.152 0.135783 0.1461 0.0437 0.0793 0.2761 0.0706 0.14 0.04 0.09 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468355 NA NA NA NA NA 0.123 NA 4.0205666 1250 10 122892699 122892699 G A intergenic MIR5694,FGFR2 dist=85841;dist=345145 NA NA ncRNA_exonic ENSG00000236762 NA NA NA Score=713;Name=lod=1049 NA 10q26.12 NA NA NA NA rs1907237 0.81 0.81 0.74 0.804513 0.9801 0.7758 0.8991 0.5257 0.9632 0.98 0.78 0.9 0.53 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396369 NA NA NA NA NA 0.833 NA 4.0199 1250 12 51128832 51128832 A G intronic DIP2B NA NA NA intronic ENSG00000066084 NA NA NA NA NA 12q13.12 NA Name=CTCF NA NA rs3742062 0.32 0.32 0.322 0.316693 0.33 0.256 0.2752 0.326 0.3824 0.32 0.31 0.27 0.35 0.3099 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417437 NA NA 0.340349 0.317975 NA 0.297 NA 4.019751 1250 6 7341836 7341836 C T intronic CAGE1 NA NA NA ncRNA_exonic ENSG00000230570 NA NA NA NA NA 6p24.3 NA NA NA NA rs879294 0.41 0.41 0.456 0.428714 0.3141 0.2431 0.2882 0.8442 0.2761 0.32 0.22 0.3 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160413 NA NA NA NA NA 0.391 NA 4.0192333 1250 6 31379620 31379620 G A intronic MICA NA NA NA ncRNA_intronic ENSG00000206337 NA NA NA NA NA 6p21.33 NA NA NA NA rs3828882 0.37 0.37 0.333 0.364617 0.3141 0.3006 0.4078 0.4781 0.2986 0.32 0.28 0.46 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.834883 NA NA NA NA NA 0.341 NA 4.0192333 1250 6 31382690 31382690 A G intronic MICA NA NA NA ncRNA_intronic ENSG00000206337 NA NA NA NA NA 6p21.33 NA NA NA NA rs9266823 0.36 0.36 0.308 0.358227 0.3141 0.3006 0.4049 0.4554 0.2986 0.32 0.28 0.46 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614774 NA NA NA NA NA 0.29 NA 4.0192333 1250 19 21719401 21719401 T C exonic ZNF429 NA synonymous SNV ZNF429:NM_001001415:exon4:c.T546C:p.F182F exonic ENSG00000197013 NA synonymous SNV ENSG00000197013:ENST00000358491:exon4:c.T546C:p.F182F NA NA 19p12 NA NA NA NA rs35782355 0.56 0.56 0.532 0.557708 0.5388 0.6389 0.5288 0.4781 0.6217 0.54 0.66 0.55 0.48 0.5514 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24889 NA NA 0.55792 0.466955 NA 0.471 NA 4.0185466 1250 21 47544541 47544541 C G intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs3746995 0.44 0.44 0.404 NA NA NA NA NA NA 0.53 0.41 0.62 0.22 0.4797 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.305283 1.305283 NA 0.501861 0.242507 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079855.1;CLNDSDB=.;CLNDSDBID=. 4.018439 1250 3 97888197 97888197 C T exonic OR5H15 NA synonymous SNV OR5H15:NM_001005515:exon1:c.C654T:p.Y218Y exonic ENSG00000233412 NA synonymous SNV ENSG00000233412:ENST00000356526:exon1:c.C654T:p.Y218Y NA NA 3q11.2 NA NA NA NA rs7623031 0.62 0.62 0.624 0.626597 0.5368 0.5079 0.5807 0.8525 0.5685 0.54 0.56 0.53 0.85 0.5702 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.905891 NA NA 0.541512 0.804131 NA 0.565 NA 4.0181546 1250 12 118199286 118199286 C G exonic KSR2 NA synonymous SNV KSR2:NM_173598:exon4:c.G429C:p.T143T exonic ENSG00000171435 NA synonymous SNV ENSG00000171435:ENST00000339824:exon4:c.G516C:p.T172T,ENSG00000171435:ENST00000425217:exon4:c.G429C:p.T143T Score=578;Name=lod=297 NA 12q24.23 NA NA NA NA rs617641 0.92 0.92 0.924 0.942093 0.8807 0.9474 0.9251 0.9939 0.9417 0.87 0.94 0.93 0.99 0.8985 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093507 NA NA 0.869424 0.974378 NA 0.891 NA 4.0180426 1250 2 107423128 107423128 C T UTR3 ST6GAL2 NM_001142351:c.*6G>A,NM_032528:c.*6G>A NA NA UTR3 ENSG00000144057 ENST00000361686:c.*6G>A,ENST00000409382:c.*6G>A,ENST00000361803:c.*6G>A NA NA NA NA 2q12.2 NA NA NA NA rs3796114 0.08 0.08 0.075 0.0670927 0.1024 0.0645 0.1326 0.0272 0.0409 0.11 0.08 0.11 0.03 0.0947 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150906 NA NA 0.118605 0.041761 NA 0.123 NA 4.0176284 1250 8 43047593 43047593 G A intronic HGSNAT NA NA NA intronic ENSG00000165102 NA NA NA NA NA 8p11.21 NA NA NA NA rs17603428 0.23 0.23 0.219 0.22524 0.341 0.2361 0.2392 0.0091 0.3773 0.32 0.28 0.26 0.01 0.3072 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857817 NA NA 0.335183 0.065675 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082653.1;CLNDSDB=.;CLNDSDBID=. 4.016617 1250 5 154065495 154065495 G A intergenic MIR3141,LARP1 dist=89863;dist=26967 NA NA downstream ENSG00000221552 NA NA NA NA NA 5q33.2 NA NA Name=4 NA rs11958012 0.25 0.25 0.2 0.224641 0.4841 NA 0.2709 0.1362 0.2761 0.48 0.0017 0.32 0.14 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102157 NA NA NA NA NA NA NA 4.0159 1250 19 55032864 55032864 C T intergenic LAIR2,KIR3DX1 dist=10964;dist=11045 NA NA upstream ENSG00000213016 NA NA NA NA NA 19q13.42 NA NA Name=32 NA rs62131578 0.38 0.38 0.341 0.357428 0.4841 0.4563 0.3026 0.1543 0.4387 0.47 0.46 0.36 0.15 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085412 NA NA NA NA NA 0.384 NA 4.0159 1250 19 43382522 43382522 C T intronic PSG1 NA NA NA UTR5 ENSG00000231924 ENST00000595930:c.-241G>A NA NA NA NA 19q13.2 NA NA NA NA rs113461092 0.1 0.1 0.039 0.0992412 0.1511 0.003 0.2161 0.053 0.1247 0.15 0.0017 0.19 0.08 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.84378 NA NA NA NA NA 0.101 NA 4.0155667 1250 17 30377162 30377162 A G intronic LRRC37B NA NA NA exonic ENSG00000185158 NA unknown UNKNOWN NA NA 17q11.2 NA NA NA NA rs16967101 0.18 0.18 0.19 0.192692 0.1531 0.0397 0.1167 0.4017 0.1626 0.16 0.05 0.12 0.42 0.1849 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535883 NA NA 0.146606 0.343522 NA 0.261 NA 4.015394 1250 15 90172600 90172600 G A intronic KIF7 NA NA NA intronic ENSG00000140534,ENSG00000166813 NA NA NA NA NA 15q26.1 NA NA NA NA rs74251725 0.27 0.27 0.245 0.27516 0.331 0.3958 0.2839 0.0802 0.3507 0.34 0.35 0.25 0.08 0.3199 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449527 NA NA 0.333799 0.111136 NA 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117423.2;CLNDSDB=.;CLNDSDBID=. 4.015301 1250 17 34398495 34398495 C T UTR3 CCL18 NM_002988:c.*94C>T NA NA UTR3 ENSG00000006074 ENST00000004921:c.*94C>T NA NA NA NA 17q12 NA NA NA NA rs14304 0.23 0.23 0.203 0.204273 0.3181 0.3294 0.1902 0.0242 0.2117 0.32 0.33 0.18 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186196 NA NA NA NA NA 0.246 NA 4.0152334 1250 11 100208156 100208156 C G intronic CNTN5 NA NA NA ncRNA_exonic ENSG00000255547 NA NA NA NA NA 11q22.1 NA NA NA NA rs1944174 0.21 0.21 0.212 0.202077 0.3181 0.0556 0.1715 0.2776 0.1534 0.31 0.03 0.2 0.27 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599114 NA NA NA NA NA 0.188 NA 4.0152333 1250 19 19381755 19381755 C T intronic TM6SF2 NA NA NA ncRNA_intronic ENSG00000267629 NA NA NA NA NA 19p13.11 NA NA NA NA rs2074303 0.42 0.42 0.414 0.467053 0.3181 0.3264 0.4553 0.6536 0.5215 0.31 0.33 0.44 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528465 NA NA NA NA NA 0.493 NA 4.0152333 1251 11 24759855 24759855 G A intronic LUZP2 NA NA NA intronic ENSG00000187398 NA NA NA Score=606;Name=lod=386 NA 11p14.3 NA NA NA NA rs1564992 0.35 0.35 0.302 0.344249 0.3191 0.5774 0.379 0.1082 0.4243 0.33 0.57 0.35 0.11 0.3533 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.663779 1.663779 NA 0.312674 0.14503 NA 0.21 NA 4.014926 1251 13 75813267 75813267 A G ncRNA_exonic CTAGE11P NA NA NA ncRNA_exonic ENSG00000214249 NA NA NA NA NA 13q22.2 NA NA NA NA rs484946 0.74 0.74 0.713 0.758586 0.6521 0.9494 0.7406 0.6089 0.8865 0.67 0.95 0.72 0.63 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529464 NA NA NA NA NA 0.609 NA 4.0145666 1251 7 142099438 142099438 A G intergenic LOC730441,MTRNR2L6 dist=127370;dist=274693 NA NA downstream ENSG00000229200 NA NA NA NA NA 7q34 NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA 0.4856 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382191 NA NA NA NA NA NA NA 4.0144 1251 9 98112208 98112208 G C intergenic FANCC,PTCH1 dist=32217;dist=93056 NA NA intergenic ENSG00000158169,ENSG00000271384 dist=32224;dist=57064 NA NA NA NA 9q22.32 NA NA Name=4 NA rs4744458 0.17 0.17 0.161 0.142372 0.3191 0.0288 0.2089 0.0779 0.1176 0.32 0.02 0.23 0.08 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784588 NA NA NA NA NA 0.101 NA 4.0142334 1251 13 111973098 111973098 T C UTR5 TEX29 NM_152324:c.-140T>C NA NA UTR5 ENSG00000153495 ENST00000283547:c.-140T>C NA NA NA NA 13q34 NA NA NA NA rs12855715 0.46 0.46 0.394 0.435703 0.3191 0.8006 0.451 0.3306 0.3108 0.3 0.77 0.44 0.35 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102847 NA NA NA NA NA 0.239 NA 4.0142334 1251 1 12062205 12062205 A G intronic MFN2 NA NA NA intronic ENSG00000116688 NA NA NA NA NA 1p36.22 NA Name=AP-2gamma Name=31 NA rs2236057 0.64 0.64 0.635 0.657947 0.673 0.6845 0.5648 0.6324 0.7157 0.68 0.63 0.57 0.65 0.6615 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506961 NA NA 0.651395 0.64798 NA 0.572 NA 4.014105 1251 5 145643048 145643048 G A intronic RBM27 NA NA NA intronic ENSG00000091009 NA NA NA NA NA 5q32 Score=813;Name=V$BRN2_01 NA NA NA rs7729098 0.34 0.34 0.342 0.341454 0.3042 0.2113 0.4308 0.5182 0.2117 0.31 0.22 0.37 0.49 0.3442 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.399765 NA NA 0.337521 0.485332 NA 0.449 NA 4.014079 1251 12 117217141 117217141 T C exonic RNFT2 NA synonymous SNV RNFT2:NM_001109903:exon7:c.T870C:p.A290A,RNFT2:NM_032814:exon7:c.T870C:p.A290A exonic ENSG00000135119 NA synonymous SNV ENSG00000135119:ENST00000257575:exon7:c.T870C:p.A290A,ENSG00000135119:ENST00000392549:exon7:c.T870C:p.A290A,ENSG00000135119:ENST00000407967:exon7:c.T870C:p.A290A NA NA 12q24.22 Score=790;Name=V$PPARG_03 NA NA NA rs4767452 0.89 0.89 0.884 0.871605 0.8827 0.9534 0.9193 0.789 0.8538 0.88 0.95 0.92 0.79 0.8834 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916872 NA NA 0.886628 0.797095 NA 0.891 NA 4.0139386 1251 12 9463077 9463077 A C ncRNA_intronic LOC642846 NA NA NA ncRNA_intronic ENSG00000111788 NA NA NA NA NA 12p13.31 NA NA NA NA rs10771513 0.47 0.47 0.429 0.674521 0.6531 0.4048 0.6787 0.7829 0.8252 0.53 0.3 0.53 0.52 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26847 NA NA NA NA NA 0.094 NA 4.0135666 1251 6 56470690 56470690 G A ncRNA_intronic RNU6-71P NA NA NA exonic ENSG00000151914 NA synonymous SNV ENSG00000151914:ENST00000439203:exon26:c.C7125T:p.N2375N,ENSG00000151914:ENST00000446842:exon26:c.C7125T:p.N2375N,ENSG00000151914:ENST00000312431:exon36:c.C8103T:p.N2701N,ENSG00000151914:ENST00000361203:exon36:c.C8103T:p.N2701N,ENSG00000151914:ENST00000370769:exon36:c.C8103T:p.N2701N,ENSG00000151914:ENST00000370754:exon39:c.C8637T:p.N2879N NA NA 6p12.1 NA NA NA NA rs13209548 0.37 0.37 0.371 0.355032 0.3807 0.2431 0.3775 0.4985 0.2342 0.36 0.24 0.4 0.52 0.3629 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97993 NA NA 0.40967 0.485598 NA 0.442 NA 4.0133966 1251 14 81448511 81448511 G A intronic TSHR NA NA NA ncRNA_exonic ENSG00000258915 NA NA NA NA NA 14q31.1 NA NA NA NA rs4903957 0.25 0.25 0.222 0.246006 0.3211 0.1815 0.3588 0.0605 0.4059 0.33 0.21 0.36 0.08 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506354 NA NA NA NA NA 0.304 NA 4.0122333 1251 3 22423244 22423244 C T intergenic ZNF385D,UBE2E2 dist=630428;dist=821540 NA NA upstream ENSG00000132967 NA NA NA Score=797;Name=lod=2312 NA 3p24.3 NA NA NA NA rs4597736 0.45 0.45 0.385 0.457867 0.4881 0.4385 0.6254 0.2761 0.5736 0.49 0.48 0.58 0.24 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040056 NA NA NA NA NA 0.377 NA 4.0119 1251 19 44565125 44565125 A G intronic ZNF223 NA NA NA intronic ENSG00000178386,ENSG00000267022 NA NA NA NA NA 19q13.31 NA NA Name=2 NA rs4502339 0.99 0.99 0.998 0.995607 0.9881 1 0.987 0.9992 1 0.99 1 0.99 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261763 NA NA NA NA NA 1 NA 4.0119 1251 11 71506121 71506121 T G ncRNA_exonic ALG1L9P NA NA NA ncRNA_exonic ENSG00000248671 NA NA NA NA NA 11q13.4 NA NA NA NA rs12801684 0.57 0.57 0.568 0.600639 0.6551 0.4415 0.464 0.6551 0.7321 0.65 0.43 0.51 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155805 NA NA NA NA NA 0.551 NA 4.0115666 1251 2 230663576 230663576 C T intronic TRIP12 NA NA NA intronic ENSG00000153827 NA NA NA NA NA 2q36.3 NA NA Name=9 NA rs6720868 0.33 0.33 0.337 0.336262 0.3449 0.252 0.2767 0.4523 0.2996 0.36 0.22 0.3 0.44 0.3183 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.698742 NA NA 0.326163 0.46414 NA 0.413 NA 4.010637 1251 12 6573856 6573856 G T UTR3 VAMP1 NM_199245:c.*186C>A NA NA UTR3 ENSG00000139190 ENST00000361716:c.*186C>A NA NA NA NA 12p13.31 NA NA NA NA rs1034969 0.28 0.28 0.277 0.272564 0.3231 0.3284 0.1844 0.2141 0.3047 0.31 0.33 0.2 0.22 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864607 NA NA NA NA NA 0.232 NA 4.0102334 1251 6 119344020 119344020 C T intronic FAM184A NA NA NA ncRNA_intronic ENSG00000253194 NA NA NA NA NA 6q22.31 NA NA NA NA rs9481880 0.18 0.18 0.17 0.192492 0.3231 0.0714 0.2478 0.0651 0.316 0.32 0.05 0.27 0.06 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731387 NA NA NA NA NA 0.246 NA 4.0102333 1251 8 22571113 22571113 G A intronic PEBP4 NA NA NA ncRNA_intronic ENSG00000253125 NA NA NA NA NA 8p21.3 NA NA NA NA rs2280106 0.32 0.32 0.279 0.28734 0.3231 0.2996 0.4582 0.2428 0.1769 0.32 0.29 0.43 0.26 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324179 NA NA NA NA NA 0.268 NA 4.0102333 1251 10 100013244 100013244 A C intronic LOXL4 NA NA NA ncRNA_intronic ENSG00000230928 NA NA NA NA NA 10q24.2 NA NA NA NA rs3750599 0.33 0.33 0.308 0.322484 0.3231 0.4732 0.33 0.2073 0.317 0.32 0.48 0.33 0.17 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528203 NA NA NA NA NA 0.319 NA 4.0102333 1251 11 78128775 78128775 C T UTR5 GAB2 NM_080491:c.-9G>A NA NA ncRNA_UTR5 ENSG00000033327 NA NA NA NA NA 11q14.1 NA NA NA NA rs11237488 0.22 0.22 0.14 0.199281 0.1561 0.4067 0.3055 0.0136 0.2055 0.18 0.4 0.25 0.04 0.2273 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.458054 1.458054 NA 0.106717 0.025227 NA NA NA 4.009883 1251 2 127453664 127453664 A C exonic GYPC NA synonymous SNV GYPC:NM_016815:exon3:c.A276C:p.G92G,GYPC:NM_002101:exon4:c.A333C:p.G111G,GYPC:NM_001256584:exon5:c.A270C:p.G90G exonic ENSG00000136732 NA synonymous SNV ENSG00000136732:ENST00000409836:exon3:c.A276C:p.G92G,ENSG00000136732:ENST00000259254:exon4:c.A333C:p.G111G,ENSG00000136732:ENST00000356887:exon4:c.A270C:p.G90G NA NA 2q14.3 NA NA NA NA rs1050967 0.6 0.6 0.659 0.615016 0.5497 0.6806 0.572 0.7474 0.4663 0.53 0.67 0.54 0.69 0.5554 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293255 NA NA 0.552093 0.691103 NA 0.667 NA 4.0094736 1251 3 186435583 186435583 T C intronic KNG1 NA NA NA ncRNA_intronic ENSG00000197099 NA NA NA NA NA 3q27.3 NA NA NA NA rs13095338 0.35 0.35 0.329 0.390176 0.3241 0.3393 0.3098 0.4728 0.456 0.33 0.3 0.33 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37712 NA NA NA NA NA 0.072 NA 4.0092333 1251 15 25417676 25417676 C T upstream SNORD115-2 NA NA NA ncRNA_exonic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs2739839 0.14 0.14 0.105 0.120008 0.1581 0.1825 0.2061 0.0068 0.1084 0.15 0.17 0.24 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415726 NA NA NA NA NA 0.181 NA 4.0085666 1251 8 103572992 103572992 C G exonic ODF1 NA synonymous SNV ODF1:NM_024410:exon2:c.C633G:p.P211P exonic ENSG00000155087 NA synonymous SNV ENSG00000155087:ENST00000285402:exon2:c.C633G:p.P211P,ENSG00000155087:ENST00000518835:exon2:c.C12G:p.P4P Score=333;Name=lod=30 NA 8q22.3 NA NA NA NA rs3018444 0.77 0.77 0.732 0.786342 0.9046 0.6399 0.9063 0.6558 0.907 0.91 0.66 0.9 0.61 0.8603 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.308799 NA NA 0.893256 0.677712 NA 0.746 NA 4.0085106 1251 8 72935008 72935008 C T ncRNA_UTR3 TRPA1 NA NA NA UTR3 ENSG00000104321 ENST00000262209:c.*133G>A NA NA NA NA 8q13.3 NA NA NA NA rs10085956 0.56 0.56 0.548 0.513578 0.492 0.7589 0.3862 0.4871 0.409 0.52 0.79 0.41 0.47 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054297 NA NA NA NA NA 0.478 NA 4.008 1251 8 72935039 72935039 C T ncRNA_UTR3 TRPA1 NA NA NA UTR3 ENSG00000104321 ENST00000262209:c.*102G>A NA NA NA NA 8q13.3 NA NA NA NA rs10085964 0.56 0.56 0.56 0.513578 0.492 0.7589 0.3862 0.4871 0.409 0.52 0.79 0.41 0.47 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813478 NA NA NA NA NA 0.493 NA 4.008 1251 6 57472316 57472316 G A intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA Score=383;Name=lod=48 NA 6p11.2 NA NA NA NA rs9382818 NA NA NA 0.496805 0.494 0.4931 0.4971 0.4992 0.5 NA NA NA NA 0.4981 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.104011 4.104011 NA NA NA NA NA NA 4.0079 1251 6 32523206 32523206 G A ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs75999763 NA NA NA 0.682308 0.659 0.6885 0.7176 0.7352 0.6033 NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873052 NA NA NA NA NA 0.109 NA 4.0076666 1251 19 39408360 39408360 A G intronic SARS2 NA NA NA intronic ENSG00000104835,ENSG00000269547 NA NA NA NA NA 19q13.2 Score=940;Name=V$ELK1_01 NA Name=4 NA rs7508411 0.81 0.81 0.814 0.834665 0.666 0.9742 0.8314 0.9206 0.7505 0.65 0.98 0.78 0.9 0.7066 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185696 NA NA 0.619767 0.871993 NA 0.797 NA 4.007633 1251 1 18809916 18809916 G A UTR3 KLHDC7A NM_152375:c.*107G>A NA NA UTR3 ENSG00000179023 ENST00000400664:c.*107G>A NA NA NA NA 1p36.13 NA NA NA NA rs12061708 0.23 0.23 0.242 0.201677 0.326 0.1488 0.2507 0.1725 0.1329 0.35 0.14 0.21 0.18 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742843 NA NA NA NA NA 0.167 NA 4.0073334 1251 2 113089267 113089267 T C exonic ZC3H6 NA synonymous SNV ZC3H6:NM_198581:exon12:c.T2772C:p.N924N exonic ENSG00000188177 NA synonymous SNV ENSG00000188177:ENST00000343936:exon12:c.T2772C:p.N924N,ENSG00000188177:ENST00000409871:exon12:c.T2772C:p.N924N NA NA 2q13 NA NA NA NA rs7601200 0.71 0.71 0.711 0.725639 0.5477 0.7421 0.6455 0.9728 0.6145 0.55 0.78 0.59 0.98 0.5962 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.236064 NA NA 0.515732 0.901992 NA 0.703 NA 4.0070346 1251 22 41569887 41569887 G A intronic EP300 NA NA NA ncRNA_intronic ENSG00000232754 NA NA NA NA NA 22q13.2 NA NA NA NA rs2076580 0.29 0.29 0.206 0.26238 0.327 0.4613 0.2147 0.0431 0.3211 0.31 0.49 0.23 0.05 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.124058 NA NA NA NA NA 0.217 NA 4.0063333 1251 14 106791201 106791201 C G intergenic LINC00226,LINC00221 dist=46235;dist=147254 NA NA exonic ENSG00000211953 NA nonsynonymous SNV ENSG00000211953:ENST00000390613:exon2:c.G155C:p.G52A NA NA 14q32.33 NA NA NA NA rs8016991 NA NA NA 0.484625 0.3708 0.5486 0.3905 0.5681 0.4898 NA NA NA NA 0.4568 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.305095 NA 1 NA NA NA NA NA 4.0057334 1251 15 22566750 22566750 A C ncRNA_intronic REREP3 NA NA NA upstream ENSG00000258732 NA NA NA NA NA 15q11.2 NA NA NA NA rs7403787 NA NA 0.107 0.135982 0.161 0.123 0.0764 0.1906 0.092 NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411213 1.411213 NA NA NA NA 0.196 NA 4.0056666 1251 14 106209119 106209119 T C intergenic ELK2AP,KIAA0125 dist=69975;dist=174719 NA NA exonic ENSG00000211896 NA nonsynonymous SNV ENSG00000211896:ENST00000390542:exon1:c.A290G:p.K97R,ENSG00000211896:ENST00000390548:exon1:c.A290G:p.K97R,ENSG00000211896:ENST00000390549:exon1:c.A290G:p.K97R NA NA 14q32.33 Score=876;Name=V$EVI1_02 NA NA NA rs1071803 NA NA 0.26 0.397364 0.6481 0.5744 0.3876 0.028 0.4632 NA NA NA NA 0.5641 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040003 NA 0.03 0.615568 0.091891 NA 0.319 NA 4.0055654 1251 6 57472315 57472315 A G intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA Score=383;Name=lod=48 NA 6p11.2 NA NA NA NA rs9296901 NA NA NA 0.496805 0.494 0.4931 0.4971 0.4992 0.5 NA NA NA NA 0.5005 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.516607 3.516607 NA NA NA NA 0.022 NA 4.0055 1252 12 51138687 51138687 A C UTR3 DIP2B NM_173602:c.*65A>C NA NA UTR3 ENSG00000066084 ENST00000301180:c.*65A>C,ENST00000546732:c.*3130A>C NA NA NA NA 12q13.12 NA NA NA NA rs2280503 0.32 0.32 0.315 0.317093 0.329 0.256 0.2752 0.329 0.3814 0.32 0.31 0.27 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877237 NA NA NA NA NA 0.297 NA 4.0043334 1252 5 145483679 145483679 T C intronic PLAC8L1 NA NA NA ncRNA_intronic ENSG00000251556 NA NA NA NA NA 5q32 NA NA NA NA rs12188066 0.29 0.29 0.274 0.287141 0.329 0.1984 0.4452 0.2814 0.2311 0.33 0.2 0.37 0.27 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.634726 NA NA NA NA NA 0.37 NA 4.0043333 1252 16 28844284 28844284 A G intronic ATXN2L NA NA NA ncRNA_intronic ENSG00000260570 NA NA NA NA NA 16p11.2 NA NA NA NA rs62036626 0.27 0.27 0.238 0.261382 0.329 0.126 0.487 0.2277 0.2168 0.34 0.13 0.41 0.21 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440104 NA NA NA NA ID=COSN165166;OCCURENCE=1(breast) 0.159 NA 4.0043333 1252 16 28847149 28847149 G C intronic ATXN2L NA NA NA ncRNA_intronic ENSG00000260570 NA NA NA NA NA 16p11.2 NA NA NA NA rs55830740 0.27 0.27 0.231 0.261382 0.329 0.126 0.487 0.2277 0.2168 0.34 0.13 0.41 0.21 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.564168 NA NA NA NA NA 0.159 NA 4.0043333 1252 17 35414006 35414006 C T UTR3 AATF NM_012138:c.*42C>T NA NA UTR3 ENSG00000108270 ENST00000225402:c.*42C>T,ENST00000593084:c.*42C>T NA NA NA NA 17q12 NA NA NA NA rs11653434 0.05 0.05 0.055 0.0377396 0.1223 NA 0.0461 0.003 0.0307 0.13 NA 0.06 0.002 0.0868 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110631 NA NA 0.120349 0.024285 NA 0.116 NA 4.0038844 1252 1 238045995 238045995 T C ncRNA_intronic LOC100130331 NA NA NA ncRNA_intronic ENSG00000237250 NA NA NA NA NA 1q43 NA NA NA NA rs2275694 0.3 0.3 0.31 0.300919 0.2107 0.4276 0.1916 0.3707 0.2464 0.2 0.42 0.21 0.37 0.2335 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32647 NA NA 0.218837 0.341126 NA 0.297 NA 4.0036296 1252 17 39081546 39081546 A G intronic KRT23 NA NA NA ncRNA_intronic ENSG00000234477 NA NA NA NA NA 17q21.2 NA NA NA NA rs2269860 0.44 0.44 0.412 0.449081 0.33 0.5903 0.464 0.4508 0.4131 0.33 0.6 0.43 0.43 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198216 NA NA NA NA NA 0.478 NA 4.0033333 1252 10 71868763 71868763 G A intronic H2AFY2 NA NA NA intronic ENSG00000042286,ENSG00000099284 NA NA NA NA NA 10q22.1 Score=775;Name=V$MEF2_01 Name=GATA-2 NA NA rs2271698 0.47 0.47 0.443 0.419728 0.6988 0.3681 0.4971 0.1415 0.5072 0.72 0.37 0.53 0.15 0.5932 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675067 NA NA 0.704767 0.230595 NA 0.507 NA 4.003233 1252 4 39302029 39302029 T C exonic RFC1 NA synonymous SNV RFC1:NM_001204747:exon20:c.A2544G:p.P848P,RFC1:NM_002913:exon20:c.A2541G:p.P847P exonic ENSG00000035928 NA synonymous SNV ENSG00000035928:ENST00000349703:exon20:c.A2541G:p.P847P,ENSG00000035928:ENST00000381897:exon20:c.A2544G:p.P848P NA NA 4p14 NA NA NA NA rs2066786 0.49 0.49 0.438 0.465256 0.5477 0.63 0.6066 0.0552 0.6646 0.56 0.66 0.62 0.07 0.5511 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052252 NA NA 0.565116 0.150704 NA 0.413 NA 4.0027506 1252 5 179260153 179260153 C T exonic SQSTM1 NA synonymous SNV SQSTM1:NM_003900:exon6:c.C876T:p.D292D,SQSTM1:NM_001142298:exon7:c.C624T:p.D208D,SQSTM1:NM_001142299:exon7:c.C624T:p.D208D exonic ENSG00000161011 NA synonymous SNV ENSG00000161011:ENST00000360718:exon5:c.C624T:p.D208D,ENSG00000161011:ENST00000389805:exon6:c.C876T:p.D292D,ENSG00000161011:ENST00000402874:exon6:c.C624T:p.D208D,ENSG00000161011:ENST00000510187:exon6:c.C876T:p.D292D,ENSG00000161011:ENST00000376929:exon7:c.C624T:p.D208D NA NA 5q35.3 NA NA NA NA rs4935 0.68 0.68 0.658 0.69369 0.5099 0.8442 0.7349 0.7284 0.6513 0.49 0.87 0.67 0.77 0.6248 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720404 NA NA 0.529419 0.72946 NA 0.616 NA 4.0025476 1252 19 1954128 1954128 T C ncRNA_exonic CSNK1G2-AS1 NA NA NA ncRNA_exonic ENSG00000180846 NA NA NA NA NA 19p13.3 NA NA NA NA rs34797288 NA NA NA 0.501198 0.665 0.4752 0.5634 0.2943 0.5951 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051117 NA NA NA NA NA NA NA 4.0016666 1252 7 100552984 100552984 T C intergenic ACHE,MUC12 dist=59443;dist=59920 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000414964:exon1:c.T99C:p.G33G,ENSG00000169894:ENST00000422757:exon1:c.T99C:p.G33G,ENSG00000169894:ENST00000319509:exon2:c.T1629C:p.G543G NA NA 7q22.1 NA NA NA NA rs73163766 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4986 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091581 NA NA NA NA NA 0.493 NA 4.0014 1252 11 67262289 67262289 G A intronic PITPNM1 NA NA NA intronic ENSG00000110697 NA NA NA NA NA 11q13.2 NA Name=Egr-1 NA NA rs7932071 0.54 0.54 0.625 0.844449 0.9881 0.9881 0.9582 0.4531 0.9969 0.59 0.58 0.56 0.39 0.0105 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719432 NA NA NA NA NA 0.529 NA 4.0014 1252 4 159928907 159928907 G A intronic C4orf45 NA NA NA ncRNA_exonic ENSG00000248988 NA NA NA NA NA 4q32.1 NA NA NA NA rs12498847 0.31 0.31 0.27 0.334864 0.332 0.3988 0.3372 0.2186 0.4274 0.33 0.37 0.32 0.18 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147256 NA NA NA NA NA 0.37 NA 4.0013333 1252 19 3546185 3546185 G A intronic MFSD12 NA NA NA ncRNA_intronic ENSG00000267436 NA NA NA NA NA 19p13.3 NA NA NA NA rs878493 0.05 0.05 0.044 0.0527157 0.1054 NA 0.0879 0.0061 0.091 0.11 NA 0.06 0.01 0.1034 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848372 NA NA 0.123381 0.019447 NA 0.065 NA 4.0011523 1252 2 43800174 43800174 A G intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA NA NA 2p21 Score=914;Name=V$CEBP_Q2 NA NA NA rs11898207 0.32 0.32 0.337 0.351238 0.341 0.2649 0.2305 0.4017 0.4683 0.34 0.29 0.26 0.39 0.3182 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.371177 2.371177 NA 0.339736 0.369778 NA 0.348 NA 4.001064 1252 1 152382062 152382062 C T UTR3 CRNN NM_016190:c.*8G>A NA NA ncRNA_UTR3 ENSG00000143536 NA NA NA NA NA 1q21.3 NA NA NA NA rs10888486 0.22 0.22 0.19 0.234425 0.1431 0.4296 0.3689 0.0189 0.3231 0.14 0.44 0.3 0.02 0.2041 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533906 NA NA 0.15186 0.041307 NA 0.174 NA 4.00094 1252 11 94231257 94231257 C G exonic ANKRD49 NA synonymous SNV ANKRD49:NM_017704:exon3:c.C279G:p.L93L exonic ENSG00000168876 NA synonymous SNV ENSG00000168876:ENST00000302755:exon2:c.C279G:p.L93L,ENSG00000168876:ENST00000535502:exon3:c.C156G:p.L52L,ENSG00000168876:ENST00000544612:exon3:c.C279G:p.L93L,ENSG00000168876:ENST00000545130:exon3:c.C384G:p.L128L NA NA 11q21 NA NA NA NA rs2509943 0.54 0.54 0.547 0.547524 0.5537 0.5208 0.5202 0.6604 0.4356 0.57 0.47 0.52 0.62 0.5411 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095539 NA NA 0.570963 0.626533 NA 0.616 NA 4.0009036 1252 17 56695008 56695008 C A intronic TEX14 NA NA NA intronic ENSG00000121101 NA NA NA NA NA 17q22 NA NA Name=8 NA rs302860 0.22 0.22 0.211 0.205072 0.3748 0.001 0.2089 0.261 0.1626 0.35 0.0017 0.25 0.26 0.2772 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161956 NA NA 0.347523 0.278964 NA 0.319 NA 4.000477 1252 11 9715646 9715646 T C intronic SWAP70 NA NA NA intronic ENSG00000133789 NA NA NA NA NA 11p15.4 NA Name=CTCF,USF-1 Name=7 NA rs3763865 0.56 0.56 0.499 0.551917 0.7008 0.5417 0.6715 0.2534 0.728 0.69 0.53 0.71 0.29 0.637 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219835 NA NA 0.661854 0.310313 NA 0.449 NA 4.000346 1252 12 48877193 48877193 T C intronic C12orf54 NA NA NA ncRNA_exonic ENSG00000258121 NA NA NA NA NA 12q13.11 NA NA NA NA rs11832311 0.28 0.28 0.229 0.288339 0.0815 0.6548 0.3357 0.1528 0.273 0.09 0.63 0.3 0.14 0.1874 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449774 NA NA 0.064186 0.151384 NA 0.174 NA 4.0002473 1252 7 100550133 100550133 A G intergenic ACHE,MUC12 dist=56592;dist=62771 NA NA exonic ENSG00000228273 NA synonymous SNV ENSG00000228273:ENST00000379458:exon2:c.A714G:p.T238T NA NA 7q22.1 NA NA NA NA rs74197937 NA NA NA 0.000399361 NA 0.001 0.0014 NA NA NA NA NA NA 0.4998 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605704 NA NA NA NA NA 0.486 NA 4.0002 1252 7 149559465 149559465 C T exonic ZNF862 NA synonymous SNV ZNF862:NM_001099220:exon7:c.C3216T:p.G1072G exonic ENSG00000106479 NA synonymous SNV ENSG00000106479:ENST00000223210:exon7:c.C3216T:p.G1072G NA NA 7q36.1 NA NA NA NA rs2074701 0.48 0.48 0.488 0.437899 0.5686 0.3264 0.487 0.4743 0.3344 0.56 0.35 0.51 0.48 0.5093 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205542 NA NA 0.588655 0.512649 ID=COSM452588;OCCURENCE=1(breast) 0.529 NA 4.0001116 1252 7 100549788 100549788 A G intergenic ACHE,MUC12 dist=56247;dist=63116 NA NA exonic ENSG00000228273 NA synonymous SNV ENSG00000228273:ENST00000379458:exon2:c.A369G:p.S123S NA NA 7q22.1 NA NA NA NA rs78113948 NA NA NA 0.000399361 NA NA 0.0014 NA 0.001 NA NA NA NA 0.4999 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914492 NA NA NA NA NA NA NA 4.0001 1252 7 100552044 100552044 T G intergenic ACHE,MUC12 dist=58503;dist=60860 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.T795G:p.S265S NA NA 7q22.1 NA NA NA NA rs73714250 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4999 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385765 NA NA NA NA NA 0.174 NA 4.0001 1252 1 884091 884091 C G intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs7522415 NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181702 NA NA NA NA NA 0.42 NA 4 1252 1 884101 884101 A C intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs4970455 NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088214 NA NA NA NA NA 0.181 NA 4 1252 1 1275291 1275291 G A intronic DVL1 NA NA NA intronic ENSG00000107404 NA NA NA NA NA 1p36.33 NA NA NA NA rs11582808 0.51 0.51 0.27 NA NA NA NA NA NA 0.51 0.49 0.5 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.822698 NA NA NA NA NA 0.116 NA 4 1252 1 2628069 2628069 G T intronic TTC34 NA NA NA intronic ENSG00000215912 NA NA NA NA NA 1p36.32 NA NA NA NA rs61766464 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299472 NA NA NA NA NA 0.123 NA 4 1252 1 12908333 12908333 T C intronic HNRNPCL1 NA NA NA intronic ENSG00000179172 NA NA NA NA NA 1p36.21 NA NA NA NA rs1737106 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.238381 NA NA NA NA NA 0.138 NA 4 1252 1 12940117 12940117 C G intronic PRAMEF4 NA NA NA intronic ENSG00000243073 NA NA NA NA NA 1p36.21 NA NA NA NA rs28459245 NA NA 0.504 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879234 NA NA NA NA NA NA NA 4 1252 1 15890355 15890355 A G intronic DNAJC16 NA NA NA intronic ENSG00000116138 NA NA NA NA NA 1p36.21 NA NA NA NA rs6429750 0.1 0.1 NA NA NA NA NA NA NA 0.09 0.03 0.06 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210409 NA NA NA NA NA 0.152 NA 4 1252 1 16363042 16363042 C T intergenic CLCNKA,CLCNKB dist=2497;dist=7189 NA NA ncRNA_intronic ENSG00000232456 NA NA NA NA NA 1p36.13 NA NA NA NA rs2008876 NA NA 0.167 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.700139 NA NA NA NA NA NA NA 4 1252 1 16907124 16907124 A C intronic NBPF1 NA NA NA intronic ENSG00000219481 NA NA NA NA NA 1p36.13 NA NA NA NA rs615115 NA NA 0.671 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217068 NA NA NA NA NA NA NA 4 1252 1 16913416 16913416 G C intronic NBPF1 NA NA NA intronic ENSG00000219481 NA NA NA NA NA 1p36.13 NA NA NA NA rs76915367 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.194207 NA NA NA NA NA NA NA 4 1252 1 16959551 16959551 T C intergenic CROCCP2,MST1P2 dist=2150;dist=12518 NA NA ncRNA_intronic ENSG00000215908 NA NA NA NA NA 1p36.13 NA NA NA NA rs849696 NA NA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021928 NA NA NA NA NA 0.268 NA 4 1252 1 16969381 16969381 C T intergenic CROCCP2,MST1P2 dist=11980;dist=2688 NA NA ncRNA_intronic ENSG00000215908 NA NA NA NA NA 1p36.13 NA NA NA NA rs9727604 NA NA 0.627 NA NA NA NA NA NA NA NA NA NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442016 NA NA NA NA NA 0.514 NA 4 1252 1 17250762 17250762 G C intronic CROCC NA NA NA intronic ENSG00000058453 NA NA NA NA NA 1p36.13 NA NA NA NA rs58609892 NA NA 0.338 NA NA NA NA NA NA NA NA NA NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.369044 NA NA NA NA NA 0.297 NA 4 1252 1 42664971 42664971 T C intronic FOXJ3 NA NA NA intronic ENSG00000198815 NA NA NA NA NA 1p34.2 NA NA NA NA rs144671166 0.0009 0.0009 0.001 0.000399361 NA 0.001 0.0014 NA NA NA 0.0017 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037299 NA NA NA NA NA NA NA 4 1252 1 46818213 46818213 C G intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs72677590 0.16 0.16 0.152 NA NA NA NA NA NA 0.27 0.02 0.17 0.13 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950033 NA NA NA NA NA 0.217 NA 4 1252 1 55337380 55337380 A G intronic DHCR24 NA NA NA intronic ENSG00000116133 NA NA NA NA NA 1p32.3 NA NA NA NA rs2303535 0.05 0.05 0.059 0.061901 NA 0.1369 0.0029 0.087 0.0562 NA 0.13 NA 0.07 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732206 NA NA NA NA NA 0.08 NA 4 1252 1 110211835 110211835 T C intronic GSTM2 NA NA NA intronic ENSG00000213366 NA NA NA NA NA 1p13.3 NA NA NA NA rs402505 NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468277 NA NA NA NA NA 0.478 NA 4 1252 1 144854730 144854730 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs75855616 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611712 NA NA NA NA NA NA NA 4 1252 1 144854750 144854750 G A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs75538208 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430083 NA NA NA NA NA NA NA 4 1252 1 144854761 144854761 T C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs79445592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535474 NA NA NA NA NA NA NA 4 1252 1 144854765 144854765 T C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs78741893 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758865 NA NA NA NA NA NA NA 4 1252 1 144857876 144857876 T G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1698578 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660989 NA NA NA NA NA 0.493 NA 4 1252 1 144866509 144866509 G A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs924667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546442 NA NA NA NA NA 0.5 NA 4 1252 1 144873818 144873818 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1610566 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493663 NA NA NA NA NA 0.493 NA 4 1252 1 144874088 144874088 G C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1419158 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061447 NA NA NA NA NA 0.493 NA 4 1252 1 144878928 144878928 G T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs2762876 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239573 NA NA NA NA NA 0.5 NA 4 1252 1 144919094 144919094 C T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1698680 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006538 NA NA NA NA NA 0.5 NA 4 1252 1 144922109 144922109 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1343469 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.486808 NA NA NA NA NA 0.5 NA 4 1252 1 145021024 145021024 G C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1778692 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95728 NA NA NA NA NA 0.341 NA 4 1252 1 145281203 145281203 G A intronic NBPF9,NOTCH2NL NA NA NA intronic ENSG00000213240,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA NA NA rs10910785 NA NA 0.74 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.013034 NA NA NA NA NA 0.283 NA 4 1252 1 148004883 148004883 T A intronic NBPF14,NBPF8 NA NA NA intronic ENSG00000122497 NA NA NA NA NA 1q21.2 NA NA NA NA rs148664595 NA NA 0.532 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821132 NA NA NA NA NA NA NA 4 1252 1 148889551 148889551 T A intergenic PPIAL4F,LOC645166 dist=82752;dist=38735 NA NA ncRNA_intronic ENSG00000231448 NA NA NA NA NA 1q21.2 NA NA NA NA rs151021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093855 NA NA NA NA NA NA NA 4 1252 1 153742610 153742610 G T intronic INTS3 NA NA NA intronic ENSG00000143624 NA NA NA NA NA 1q21.3 NA NA NA NA rs12120312 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.040454 NA NA NA NA NA 0.058 NA 4 1252 1 154494082 154494082 G C intronic TDRD10 NA NA NA intronic ENSG00000163239 NA NA NA NA NA 1q21.3 NA NA NA NA rs4269769 0.82 0.82 0.805 NA NA NA NA NA NA 0.83 0.92 0.86 0.64 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375034 NA NA NA NA NA 0.783 NA 4 1252 1 154794505 154794505 G A intronic KCNN3 NA NA NA intronic ENSG00000143603 NA NA NA NA NA 1q21.3 NA NA NA NA rs114043131 0.01 0.01 0.009 0.00738818 NA NA 0.0029 0.0265 NA NA NA 0.0028 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095922 NA NA NA NA NA NA NA 4 1252 1 196398619 196398619 T C intronic KCNT2 NA NA NA intronic ENSG00000162687 NA NA NA NA NA 1q31.3 NA NA NA NA rs1538684 0.49 0.49 0.447 NA NA NA NA NA NA 0.58 0.63 0.53 0.15 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292487 NA NA NA NA NA 0.486 NA 4 1252 1 197513931 197513931 A G intronic DENND1B NA NA NA intronic ENSG00000213047 NA NA NA NA NA 1q31.3 NA NA NA NA rs6665511 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608776 NA NA NA NA NA 0.072 NA 4 1252 1 209785011 209785011 G C intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs2076226 0.39 0.39 0.397 NA NA NA NA NA NA 0.37 0.38 0.37 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162638 NA NA NA NA NA 0.522 NA 4 1252 1 227171738 227171738 G T intronic ADCK3 NA NA NA intronic ENSG00000163050 NA NA NA NA NA 1q42.13 NA NA NA NA rs377335668 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062806 NA NA NA NA NA NA NA 4 1252 1 233490536 233490536 A G intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA NA NA rs12406625 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075377 NA NA NA NA NA NA NA 4 1252 1 247597208 247597208 T G intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA NA NA NA rs113966299 NA NA 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975413 NA NA NA NA NA NA NA 4 1252 1 247597211 247597211 T C intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA NA NA NA rs112695411 NA NA 0.088 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874642 NA NA NA NA NA NA NA 4 1252 1 247597223 247597223 G A intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA NA NA NA rs111632834 NA NA 0.113 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425351 NA NA NA NA NA NA NA 4 1252 1 247597239 247597239 G A intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA NA NA NA rs78648901 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723092 NA NA NA NA NA 0.007 NA 4 1252 2 39088032 39088032 G T intronic DHX57 NA NA NA intronic ENSG00000163214 NA NA NA NA NA 2p22.1 NA NA NA NA rs376379073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037489 NA NA NA NA NA NA NA 4 1252 2 46583187 46583187 A T intronic EPAS1 NA NA NA intronic ENSG00000116016 NA NA NA NA NA 2p21 NA NA NA NA rs2278754 0.12 0.12 0.088 NA NA NA NA NA NA 0.12 0.07 0.27 0.1 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112124 NA NA NA NA NA 0.13 NA 4 1252 2 79254065 79254065 C T intronic REG3G NA NA NA intronic ENSG00000143954 NA NA NA NA NA 2p12 NA NA NA NA rs431912 0.38 0.38 0.269 NA NA NA NA NA NA 0.31 0.45 0.39 0.4 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245135 NA NA NA NA NA 0.413 NA 4 1252 2 91782803 91782803 G A intergenic NONE,LOC654342 dist=NONE;dist=41906 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA NA NA rs2599167 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.642075 NA NA NA NA NA 0.5 NA 4 1252 2 91795381 91795381 A C intergenic NONE,LOC654342 dist=NONE;dist=29328 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA NA NA rs4244683 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65475 NA NA NA NA NA 0.761 NA 4 1252 2 91799977 91799977 C G intergenic NONE,LOC654342 dist=NONE;dist=24732 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA NA NA rs2531388 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493524 NA NA NA NA NA 0.5 NA 4 1252 2 91800715 91800715 A G intergenic NONE,LOC654342 dist=NONE;dist=23994 NA NA ncRNA_exonic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA NA NA rs1640040 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.644322 NA NA NA NA NA 0.5 NA 4 1252 2 116101335 116101335 C T intronic DPP10 NA NA NA intronic ENSG00000175497 NA NA NA NA NA 2q14.1 NA NA NA NA rs76093479 0.02 0.02 0.021 0.0205671 NA NA 0.0086 0.0734 NA NA NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183035 NA NA NA NA NA 0.022 NA 4 1252 2 130970889 130970889 G A intergenic TUBA3E,CCDC115 dist=14855;dist=124927 NA NA ncRNA_exonic ENSG00000230756 NA NA NA NA NA 2q21.1 NA NA NA NA rs62165111 0.33 0.33 0.262 NA NA NA NA NA NA 0.33 0.32 0.38 0.29 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530663 NA NA NA NA NA 0.072 NA 4 1252 2 133070508 133070508 G T intergenic ANKRD30BL,GPR39 dist=54966;dist=103639 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7340197 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514539 NA NA NA NA NA 0.478 NA 4 1252 2 133070531 133070531 C T intergenic ANKRD30BL,GPR39 dist=54989;dist=103616 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7340370 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252624 NA NA NA NA NA 0.486 NA 4 1252 2 133070556 133070556 T C intergenic ANKRD30BL,GPR39 dist=55014;dist=103591 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7355766 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476263 NA NA NA NA NA 0.297 NA 4 1252 2 133070656 133070656 T G intergenic ANKRD30BL,GPR39 dist=55114;dist=103491 NA NA ncRNA_intronic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs2459648 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675654 NA NA NA NA NA 0.5 NA 4 1252 2 133070685 133070685 C T intergenic ANKRD30BL,GPR39 dist=55143;dist=103462 NA NA ncRNA_intronic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs2443273 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601228 NA NA NA NA NA 0.5 NA 4 1252 2 133075027 133075027 G A intergenic ANKRD30BL,GPR39 dist=59485;dist=99120 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349198 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680951 NA NA NA NA NA 0.486 NA 4 1252 2 133075104 133075104 C T intergenic ANKRD30BL,GPR39 dist=59562;dist=99043 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349364 NA NA NA 0.000399361 NA 0.002 NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046506 NA NA NA NA NA 0.449 NA 4 1252 2 133075207 133075207 C T intergenic ANKRD30BL,GPR39 dist=59665;dist=98940 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349365 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117064 NA NA NA NA NA 0.5 NA 4 1252 2 133075282 133075282 T C intergenic ANKRD30BL,GPR39 dist=59740;dist=98865 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349446 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199939 NA NA NA NA NA 0.493 NA 4 1252 2 133075364 133075364 T C intergenic ANKRD30BL,GPR39 dist=59822;dist=98783 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349447 NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.317679 NA NA NA NA NA NA NA 4 1252 2 133075365 133075365 G A intergenic ANKRD30BL,GPR39 dist=59823;dist=98782 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349215 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244208 NA NA NA NA NA NA NA 4 1252 2 133075409 133075409 T C intergenic ANKRD30BL,GPR39 dist=59867;dist=98738 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7349448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.247262 NA NA NA NA NA 0.181 NA 4 1252 2 133075602 133075602 A C intergenic ANKRD30BL,GPR39 dist=60060;dist=98545 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7340473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069174 NA NA NA NA NA 0.5 NA 4 1252 2 133075612 133075612 C T intergenic ANKRD30BL,GPR39 dist=60070;dist=98535 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs11491243 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56424 NA NA NA NA NA 0.5 NA 4 1252 2 133075664 133075664 T G intergenic ANKRD30BL,GPR39 dist=60122;dist=98483 NA NA ncRNA_exonic ENSG00000018607 NA NA NA NA NA 2q21.2 NA NA NA NA rs7340499 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153421 NA NA NA NA NA 0.464 NA 4 1252 3 10035785 10035785 A G intergenic EMC3,LOC401052 dist=7263;dist=12317 NA NA ncRNA_intronic ENSG00000180385 NA NA NA NA NA 3p25.3 NA NA NA NA rs201160697 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444739 NA NA NA NA NA NA NA 4 1252 3 64600829 64600829 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs56869336 0.29 0.29 0.287 NA NA NA NA NA NA 0.14 0.48 0.2 0.35 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496297 NA NA NA NA NA 0.312 NA 4 1252 3 71026263 71026263 G A intronic FOXP1 NA NA NA intronic ENSG00000114861 NA NA NA NA NA 3p13 NA NA NA NA rs141214190 0.0037 0.0037 0.002 0.00439297 NA NA 0.0043 0.0144 NA NA NA 0.01 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.21628 NA NA NA NA NA NA NA 4 1252 3 195475989 195475989 G A intronic MUC4 NA NA NA intronic ENSG00000145113 NA NA NA NA NA 3q29 NA NA NA NA rs7621695 NA NA 0.205 NA NA NA NA NA NA NA NA NA NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405981 NA NA NA NA NA 0.246 NA 4 1252 4 25390066 25390066 G A intronic ANAPC4 NA NA NA intronic ENSG00000053900 NA NA NA NA NA 4p15.2 NA NA NA NA rs145109761 0.0032 0.0032 0.006 0.00359425 NA NA 0.0043 0.0113 NA NA NA 0.01 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.539184 1.539184 NA NA NA NA NA NA 4 1252 4 73154640 73154640 T C intronic ADAMTS3 NA NA NA intronic ENSG00000156140 NA NA NA NA NA 4q13.3 NA NA NA NA rs74873938 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2888 NA NA NA NA NA 0.029 NA 4 1252 4 74804553 74804553 T C intergenic CXCL1,PF4 dist=67534;dist=41989 NA NA ncRNA_exonic ENSG00000249920 NA NA NA NA NA 4q13.3 NA NA NA NA rs113912954 0.07 0.07 0.074 0.0966454 NA 0.0069 0.036 0.3079 0.046 NA 0.01 0.03 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578849 NA NA NA NA NA 0.08 NA 4 1252 4 137277225 137277225 C T intergenic NONE,PCDH18 dist=NONE;dist=1162849 NA NA ncRNA_exonic ENSG00000249311 NA NA NA NA NA 4q28.3 NA NA NA NA rs61734727 0.02 0.02 0.016 0.0189696 NA NA 0.0043 0.0696 NA NA NA 0.0028 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33212 NA NA NA NA NA 0.014 NA 4 1252 5 1325767 1325767 A G intronic CLPTM1L NA NA NA intronic ENSG00000049656 NA NA NA NA NA 5p15.33 NA NA NA NA rs466502 0.39 0.39 0.368 NA NA NA NA NA NA 0.46 0.16 0.35 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414424 NA NA NA NA NA 0.341 NA 4 1252 5 35956026 35956026 T C intronic UGT3A1 NA NA NA intronic ENSG00000145626 NA NA NA NA NA 5p13.2 NA NA NA NA rs768621 0.34 0.34 0.333 NA NA NA NA NA NA 0.42 0.12 0.36 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089584 NA NA NA NA NA 0.478 NA 4 1252 5 110284775 110284775 C A intergenic SLC25A46,TSLP dist=186291;dist=122615 NA NA ncRNA_exonic ENSG00000248966 NA NA NA NA NA 5q22.1 NA NA NA NA rs73222496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.607678 NA NA NA NA NA 0.384 NA 4 1252 5 110286479 110286479 G A intergenic SLC25A46,TSLP dist=187995;dist=120911 NA NA ncRNA_exonic ENSG00000248966 NA NA NA NA NA 5q22.1 NA NA NA NA rs79643506 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018462 NA NA NA NA NA 0.13 NA 4 1252 5 153085696 153085696 T G intronic GRIA1 NA NA NA intronic ENSG00000155511 NA NA NA NA NA 5q33.2 NA NA NA NA rs77927355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903864 NA NA NA NA NA NA NA 4 1252 5 157415279 157415279 A G intergenic CLINT1,EBF1 dist=129096;dist=707644 NA NA ncRNA_intronic ENSG00000253743 NA NA NA NA NA 5q33.3 NA NA NA NA rs113042439 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.255898 NA NA NA NA NA NA NA 4 1252 5 175923431 175923431 G A intronic FAF2 NA NA NA intronic ENSG00000113194 NA NA NA NA NA 5q35.2 NA NA NA NA rs2963670 0.46 0.46 0.43 NA NA NA NA NA NA 0.52 0.41 0.49 0.4 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144879 NA NA NA NA NA 0.355 NA 4 1252 6 335268 335268 C T intronic DUSP22 NA NA NA intronic ENSG00000112679 NA NA NA NA NA 6p25.3 NA NA NA NA rs4959733 NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442158 NA NA NA NA NA 0.536 NA 4 1252 6 10697775 10697775 C T intronic PAK1IP1 NA NA NA intronic ENSG00000111845 NA NA NA NA NA 6p24.2 NA NA NA NA rs113503688 0.0027 0.0027 0.004 0.00519169 NA NA 0.0014 0.0189 NA NA NA 0.0028 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377896 NA NA NA NA NA NA NA 4 1252 6 32713487 32713487 G A intronic HLA-DQA2 NA NA NA intronic ENSG00000237541 NA NA NA NA NA 6p21.32 NA NA NA NA rs2239799 0.46 0.46 0.445 NA NA NA NA NA NA 0.45 0.6 0.43 0.34 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97464 NA NA NA NA NA 0.486 NA 4 1252 6 57372199 57372199 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs9382769 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341278 NA NA NA NA NA 0.5 NA 4 1252 6 57398081 57398081 T G intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs7753294 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022962 NA NA NA NA NA 0.486 NA 4 1252 6 57466987 57466987 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs12205887 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787369 NA NA NA NA NA 0.5 NA 4 1252 6 116774270 116774270 T C intergenic DSE,FAM26F dist=14828;dist=8263 NA NA ncRNA_exonic ENSG00000217241 NA NA NA NA NA 6q22.1 NA NA NA NA rs62425223 NA NA 0.182 NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231054 NA NA NA NA NA 0.283 NA 4 1252 6 150114606 150114606 C T intronic PCMT1 NA NA NA intronic ENSG00000120265 NA NA NA NA NA 6q25.1 NA NA NA NA rs12182220 0.64 0.64 0.625 NA NA NA NA NA NA 0.35 0.8 0.63 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677239 NA NA NA NA NA 0.71 NA 4 1252 6 170866249 170866249 C T intronic TBP NA NA NA intronic ENSG00000112592 NA NA NA NA NA 6q27 NA NA NA NA rs186508667 0.0018 0.0018 NA 0.00139776 NA NA 0.0101 NA NA NA NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688656 NA NA NA NA NA NA NA 4 1252 7 65238652 65238652 A G intergenic LOC441242,VKORC1L1 dist=2855;dist=99605 NA NA ncRNA_exonic ENSG00000224316 NA NA NA NA NA 7q11.21 NA NA NA NA rs56387999 NA NA 0.39 0.00199681 NA NA 0.0029 NA 0.0082 NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123481 NA NA NA NA NA 0.304 NA 4 1252 7 65238697 65238697 C T intergenic LOC441242,VKORC1L1 dist=2900;dist=99560 NA NA ncRNA_exonic ENSG00000224316 NA NA NA NA NA 7q11.21 NA NA NA NA rs55919100 NA NA 0.338 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381008 NA NA NA NA NA 0.007 NA 4 1252 7 121943610 121943610 G A intronic FEZF1 NA NA NA intronic ENSG00000128610 NA NA NA NA NA 7q31.32 NA NA NA NA rs185800077 0.2 0.2 NA NA NA NA NA NA NA 0.31 0.06 0.2 0.18 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287187 NA NA NA NA NA NA NA 4 1252 7 139746632 139746632 G C intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs57397446 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963111 NA NA NA NA NA NA NA 4 1252 7 139746633 139746633 T A intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs60699868 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632639 NA NA NA NA NA NA NA 4 1252 7 141760228 141760228 T C intronic MGAM NA NA NA intronic ENSG00000257335 NA NA NA NA NA 7q34 NA NA NA NA rs6959057 NA NA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278622 NA NA NA NA NA 0.261 NA 4 1252 7 142460107 142460107 G A intronic PRSS1 NA NA NA intronic ENSG00000204983 NA NA NA NA NA 7q34 NA NA NA NA rs371923665 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095465 NA NA NA NA NA NA NA 4 1252 7 142460148 142460148 T C intronic PRSS1 NA NA NA intronic ENSG00000204983 NA NA NA NA NA 7q34 NA NA NA NA rs375261945 NA NA NA 0.000998403 NA NA NA 0.0038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550523 NA NA NA NA NA NA NA 4 1252 7 151971043 151971043 T C intronic MLL3 NA NA NA intronic ENSG00000055609 NA NA NA NA NA 7q36.1 NA NA NA NA rs2360885 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67066 NA NA NA NA NA 0.268 NA 4 1252 7 154679562 154679562 C A intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs7783439 0.01 0.01 0.018 0.0139776 NA NA 0.0058 0.0499 NA NA NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.209554 NA NA NA NA NA NA NA 4 1252 8 7217291 7217291 A G intronic ZNF705G NA NA NA intronic ENSG00000215372 NA NA NA NA NA 8p23.1 NA NA NA NA rs56111220 NA NA 0.328 NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.99464 NA NA NA NA NA 0.188 NA 4 1252 8 59535860 59535860 T A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs115290812 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009092 NA NA NA NA NA NA NA 4 1252 8 69046228 69046228 G T intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA rs113579494 0.0041 0.0041 0.003 0.00738818 NA NA 0.0043 0.0257 NA NA NA 0.01 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041029 NA NA NA NA NA 0.007 NA 4 1252 8 135620894 135620894 T G intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA NA NA rs3739421 0.41 0.41 0.358 NA NA NA NA NA NA 0.34 0.55 0.5 0.28 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691376 NA NA NA NA NA 0.188 NA 4 1252 9 33386284 33386284 T G intronic AQP7 NA NA NA intronic ENSG00000165269 NA NA NA NA NA 9p13.3 NA NA NA NA rs73478964 NA NA 0.326 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287057 NA NA NA NA NA 0.007 NA 4 1252 9 33386901 33386901 G A intronic AQP7 NA NA NA intronic ENSG00000165269 NA NA NA NA NA 9p13.3 NA NA NA NA rs71488925 NA NA 0.021 0.000399361 NA NA NA NA 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171923 NA NA NA NA NA NA NA 4 1252 9 40332852 40332852 A T intergenic FAM74A1,SPATA31A3 dist=425612;dist=367439 NA NA ncRNA_intronic ENSG00000185020 NA NA NA NA NA 9p13.1 NA NA NA NA rs1692850 NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480402 NA NA NA NA NA 0.217 NA 4 1252 9 65602551 65602551 C T intergenic SPATA31A5,PTGER4P2-CDK2AP2P2 dist=92941;dist=891718 NA NA ncRNA_intronic ENSG00000237792 NA NA NA NA NA 9q12 NA NA NA NA rs11265643 NA NA 0.186 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873384 NA NA NA NA NA NA NA 4 1252 9 66836744 66836744 G A intergenic PTGER4P2-CDK2AP2P2,LOC286297 dist=333714;dist=180631 NA NA ncRNA_exonic ENSG00000270092 NA NA NA NA NA 9q13 NA NA NA NA rs3892981 NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216409 NA NA NA NA NA 0.145 NA 4 1252 9 68370810 68370810 C T intergenic ANKRD20A3,LOC642236 dist=400517;dist=56973 NA NA ncRNA_exonic ENSG00000226020 NA NA NA NA NA 9q13 NA NA NA NA rs74672293 NA NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369468 NA NA NA NA NA NA NA 4 1252 9 100407567 100407567 C A intronic NCBP1 NA NA NA intronic ENSG00000136937 NA NA NA NA NA 9q22.33 NA NA NA NA rs73498334 0.03 0.03 0.045 0.0469249 NA NA 0.0202 0.1581 0.0123 NA NA 0.01 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.504623 1.504623 NA NA NA NA 0.036 NA 4 1252 9 133507530 133507530 G T intronic FUBP3 NA NA NA intronic ENSG00000107164 NA NA NA NA NA 9q34.12 NA NA NA NA rs190578014 0.0005 0.0005 NA 0.000599042 NA NA 0.0043 NA NA NA NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474333 1.474333 NA NA NA NA NA NA 4 1252 9 141035935 141035935 T C intergenic CACNA1B,TUBBP5 dist=16859;dist=8630 NA NA ncRNA_exonic ENSG00000229926 NA NA NA NA NA 9q34.3 NA NA NA NA rs115489568 NA NA 0.145 NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798844 NA NA NA NA NA 0.051 NA 4 1252 10 5324731 5324731 C G intergenic AKR1C4,UCN3 dist=63821;dist=82245 NA NA ncRNA_intronic ENSG00000215267 NA NA NA NA NA 10p15.1 NA NA NA NA rs75967546 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497312 NA NA NA NA NA NA NA 4 1252 10 5324796 5324796 T C intergenic AKR1C4,UCN3 dist=63886;dist=82180 NA NA ncRNA_exonic ENSG00000215267 NA NA NA NA NA 10p15.1 NA NA NA NA rs74371453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054399 NA NA NA NA NA NA NA 4 1252 10 5324871 5324871 G A intergenic AKR1C4,UCN3 dist=63961;dist=82105 NA NA ncRNA_intronic ENSG00000215267 NA NA NA NA NA 10p15.1 NA NA NA NA rs78592374 NA NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367754 NA NA NA NA NA NA NA 4 1252 10 5324876 5324876 A T intergenic AKR1C4,UCN3 dist=63966;dist=82100 NA NA ncRNA_intronic ENSG00000215267 NA NA NA NA NA 10p15.1 NA NA NA NA rs78756916 NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662127 NA NA NA NA NA NA NA 4 1252 10 5324884 5324884 G A intergenic AKR1C4,UCN3 dist=63974;dist=82092 NA NA ncRNA_intronic ENSG00000215267 NA NA NA NA NA 10p15.1 NA NA NA NA rs199981968 NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592726 NA NA NA NA NA NA NA 4 1252 10 12142284 12142284 C T intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA NA NA NA rs9424146 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810254 NA NA NA NA NA NA NA 4 1252 10 28270612 28270612 C T intronic ARMC4 NA NA NA intronic ENSG00000169126 NA NA NA NA NA 10p12.1 NA NA NA NA rs9334541 0.08 0.08 0.071 NA NA NA NA NA NA 0.18 0.0017 0.09 0.01 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55769 NA NA NA NA NA 0.022 NA 4 1252 10 30915637 30915637 A G intronic LYZL2 NA NA NA intronic ENSG00000151033 NA NA NA NA NA 10p11.23 NA NA NA NA rs3864847 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202578 NA NA NA NA NA 0.007 NA 4 1252 10 30978282 30978282 G T intergenic LYZL2,ZNF438 dist=59635;dist=155283 NA NA ncRNA_intronic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA NA NA rs11008182 NA NA 0.196 NA NA NA NA NA NA NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049078 NA NA NA NA NA 0.188 NA 4 1252 10 38897455 38897455 T G intergenic LOC399744,ACTR3BP5 dist=156374;dist=92272 NA NA ncRNA_intronic ENSG00000215151 NA NA NA NA NA 10p11.1 NA NA NA NA rs79077766 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180227 NA NA NA NA NA NA NA 4 1252 10 38897463 38897463 C T intergenic LOC399744,ACTR3BP5 dist=156382;dist=92264 NA NA ncRNA_intronic ENSG00000215151 NA NA NA NA NA 10p11.1 NA NA NA NA rs76558209 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318988 NA NA NA NA NA NA NA 4 1252 10 38897470 38897470 T A intergenic LOC399744,ACTR3BP5 dist=156389;dist=92257 NA NA ncRNA_intronic ENSG00000215151 NA NA NA NA NA 10p11.1 NA NA NA NA rs75885844 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121482 NA NA NA NA NA NA NA 4 1252 10 38978099 38978099 T C intergenic LOC399744,ACTR3BP5 dist=237018;dist=11628 NA NA ncRNA_intronic ENSG00000233867 NA NA NA NA NA 10p11.1 NA NA NA NA rs61842167 NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939278 NA NA NA NA NA NA NA 4 1252 10 99144843 99144843 G A intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs114069199 0.08 0.08 0.12 NA NA NA NA NA NA 0.06 0.04 0.09 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711786 NA NA NA NA NA NA NA 4 1252 10 99144844 99144844 G A intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs114633874 0.09 0.09 0.127 NA NA NA NA NA NA 0.07 0.04 0.09 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702044 NA NA NA NA NA NA NA 4 1252 10 100167466 100167466 G A intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs12763379 0.36 0.36 0.304 NA NA NA NA NA NA 0.23 0.44 0.35 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819375 NA NA NA NA NA 0.065 NA 4 1252 10 112039931 112039931 T C intronic MXI1 NA NA NA intronic ENSG00000119950 NA NA NA NA NA 10q25.2 NA NA NA NA rs192824024 0.0005 0.0005 NA 0.000399361 NA NA 0.0014 NA 0.001 NA NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290606 NA NA NA NA NA NA NA 4 1252 10 118368493 118368493 C A intronic PNLIPRP1 NA NA NA intronic ENSG00000187021 NA NA NA NA NA 10q25.3 NA NA NA NA rs5003367 0.3 0.3 0.345 NA NA NA NA NA NA 0.26 0.53 0.19 0.17 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77607 NA NA NA NA NA 0.246 NA 4 1252 11 116703398 116703398 G A intronic APOC3 NA NA NA intronic ENSG00000110245 NA NA NA NA NA 11q23.3 NA NA NA NA rs12721084 0.01 0.01 0.006 0.0165735 NA NA 0.013 0.056 NA NA NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060705 NA NA NA NA NA 0.036 NA 4 1252 12 25957147 25957147 C T intergenic IFLTD1,MIR4302 dist=155651;dist=69806 NA NA ncRNA_exonic ENSG00000255725 NA NA NA NA NA 12p12.1 NA NA NA NA rs76082602 NA NA 0.252 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510157 NA NA NA NA NA 0.457 NA 4 1252 12 31242271 31242271 G A intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs2005896 0.54 0.54 0.425 NA NA NA NA NA NA 0.37 0.71 0.49 0.62 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.039148 NA NA NA NA NA 0.239 NA 4 1252 12 48376447 48376447 A G intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs3829737 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600627 NA NA NA NA NA NA NA 4 1252 13 70535347 70535347 A T intronic KLHL1 NA NA NA intronic ENSG00000150361 NA NA NA NA NA 13q21.33 NA NA NA NA rs41283976 0.1 0.1 NA NA NA NA NA NA NA 0.11 0.0017 0.15 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992047 NA NA NA NA NA 0.08 NA 4 1252 14 19806700 19806700 A G intergenic LINC00516,LINC00516 dist=125684;dist=87669 NA NA ncRNA_exonic ENSG00000196143 NA NA NA NA NA 14q11.2 NA NA NA NA rs4111007 NA NA 0.254 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387754 NA NA NA NA NA 0.007 NA 4 1252 14 19806717 19806717 A C intergenic LINC00516,LINC00516 dist=125701;dist=87652 NA NA ncRNA_exonic ENSG00000196143 NA NA NA NA NA 14q11.2 NA NA NA NA rs1575832 NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265519 NA NA NA NA NA 0.007 NA 4 1252 14 20265201 20265201 A G intergenic OR4M1,OR4N2 dist=15778;dist=30407 NA NA ncRNA_exonic ENSG00000258564 NA NA NA NA NA 14q11.2 NA NA NA NA rs17276836 0.17 0.17 0.149 NA NA NA NA NA NA 0.22 0.12 0.2 0.14 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444046 NA NA NA NA NA 0.217 NA 4 1252 14 57511445 57511445 C T intergenic OTX2-AS1,EXOC5 dist=113895;dist=157749 NA NA ncRNA_exonic ENSG00000259136 NA NA NA NA NA 14q22.3 NA NA NA NA rs28396275 NA NA 0.007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351234 NA NA NA NA NA NA NA 4 1252 14 74973583 74973583 C T intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs8020768 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75723 NA NA NA NA NA 0.043 NA 4 1252 14 93282892 93282892 T G intronic GOLGA5 NA NA NA intronic ENSG00000066455 NA NA NA NA NA 14q32.12 NA NA NA NA rs80139657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34806 NA NA NA NA NA NA NA 4 1252 14 106800503 106800503 T C intergenic LINC00226,LINC00221 dist=55537;dist=137952 NA NA ncRNA_exonic ENSG00000253587 NA NA NA NA NA 14q32.33 NA NA NA NA rs34614028 NA NA 0.159 NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.643077 NA NA NA NA NA 0.065 NA 4 1252 14 106881353 106881353 T G intergenic LINC00226,LINC00221 dist=136387;dist=57102 NA NA ncRNA_exonic ENSG00000253467 NA NA NA NA NA 14q32.33 NA NA NA NA rs75115381 NA NA 0.153 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385786 NA NA NA NA NA NA NA 4 1252 14 106881355 106881355 G C intergenic LINC00226,LINC00221 dist=136389;dist=57100 NA NA ncRNA_exonic ENSG00000253467 NA NA NA NA NA 14q32.33 NA NA NA NA rs199725513 NA NA 0.149 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462114 NA NA NA NA NA NA NA 4 1252 14 106881452 106881452 T C intergenic LINC00226,LINC00221 dist=136486;dist=57003 NA NA ncRNA_exonic ENSG00000253467 NA NA NA NA NA 14q32.33 NA NA NA NA rs74095122 0.27 0.27 0.25 NA NA NA NA NA NA 0.27 0.17 0.22 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318791 NA NA NA NA NA 0.239 NA 4 1252 14 106919301 106919301 T C intergenic LINC00226,LINC00221 dist=174335;dist=19154 NA NA ncRNA_exonic ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs73372473 0.26 0.26 0.26 NA NA NA NA NA NA 0.27 0.14 0.18 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354225 NA NA NA NA NA 0.254 NA 4 1252 14 106919382 106919382 T C intergenic LINC00226,LINC00221 dist=174416;dist=19073 NA NA ncRNA_exonic ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs73372475 NA NA 0.259 NA NA NA NA NA NA NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.237058 NA NA NA NA NA 0.145 NA 4 1252 14 106919428 106919428 G A intergenic LINC00226,LINC00221 dist=174462;dist=19027 NA NA ncRNA_exonic ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs74093719 0.27 0.27 0.241 NA NA NA NA NA NA 0.28 0.17 0.21 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19275 NA NA NA NA NA 0.094 NA 4 1252 14 106919435 106919435 C T intergenic LINC00226,LINC00221 dist=174469;dist=19020 NA NA ncRNA_exonic ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs74093722 0.27 0.27 0.242 NA NA NA NA NA NA 0.28 0.17 0.21 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196934 NA NA NA NA NA 0.094 NA 4 1252 14 106919483 106919483 C T intergenic LINC00226,LINC00221 dist=174517;dist=18972 NA NA ncRNA_exonic ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs73372477 0.25 0.25 0.216 NA NA NA NA NA NA 0.27 0.17 0.2 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.390311 NA NA NA NA NA 0.036 NA 4 1252 14 107099190 107099190 G T intergenic LINC00221,NONE dist=147661;dist=NONE NA NA ncRNA_exonic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs2583295 NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.434877 NA NA NA NA NA 0.087 NA 4 1252 14 107099230 107099230 G A intergenic LINC00221,NONE dist=147701;dist=NONE NA NA ncRNA_exonic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs2904629 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817018 NA NA NA NA NA 0.007 NA 4 1252 15 20084191 20084191 T A intergenic NONE,CHEK2P2 dist=NONE;dist=403806 NA NA ncRNA_exonic ENSG00000215567 NA NA NA NA NA 15q11.1 NA NA NA NA rs61998021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735104 NA 0.02 NA NA NA 0.297 NA 4 1252 15 20173213 20173213 G A intergenic NONE,CHEK2P2 dist=NONE;dist=314784 NA NA ncRNA_exonic ENSG00000258706 NA NA NA NA NA 15q11.1 NA NA NA NA rs73389313 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073476 NA NA NA NA NA NA NA 4 1252 15 20173245 20173245 T C intergenic NONE,CHEK2P2 dist=NONE;dist=314752 NA NA ncRNA_exonic ENSG00000258706 NA NA NA NA NA 15q11.1 NA NA NA NA rs75426745 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263459 NA NA NA NA NA NA NA 4 1252 15 20450014 20450014 G A intergenic NONE,CHEK2P2 dist=NONE;dist=37983 NA NA ncRNA_intronic ENSG00000258628 NA NA NA NA NA 15q11.1 NA NA NA NA rs2466363 NA NA 0.416 NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233548 NA NA NA NA NA 0.486 NA 4 1252 15 20453913 20453913 C T intergenic NONE,CHEK2P2 dist=NONE;dist=34084 NA NA ncRNA_exonic ENSG00000258628 NA NA NA NA NA 15q11.1 NA NA NA NA rs2601516 NA NA 0.334 NA NA NA NA NA NA NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095525 NA NA NA NA NA 0.116 NA 4 1252 15 20456828 20456828 G A intergenic NONE,CHEK2P2 dist=NONE;dist=31169 NA NA ncRNA_intronic ENSG00000258628 NA NA NA NA NA 15q11.1 NA NA NA NA rs56331633 NA NA 0.048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959579 NA NA NA NA ID=COSN164849;OCCURENCE=1(breast) NA NA 4 1252 15 20467100 20467100 A G intergenic NONE,CHEK2P2 dist=NONE;dist=20897 NA NA ncRNA_intronic ENSG00000258628 NA NA NA NA NA 15q11.1 NA NA NA NA rs4983661 NA NA 0.296 NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519621 NA NA NA NA NA 0.261 NA 4 1252 15 21137248 21137248 G A intergenic NF1P2,CT60 dist=2623;dist=8519 NA NA ncRNA_intronic ENSG00000270831 NA NA NA NA NA 15q11.2 NA NA NA NA rs8023789 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.516582 NA NA NA NA NA 0.014 NA 4 1252 15 21902874 21902874 T C intergenic CT60,LOC646214 dist=704241;dist=29640 NA NA ncRNA_intronic ENSG00000258883 NA NA NA NA NA 15q11.2 NA NA NA NA rs28642802 NA NA 0.361 NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315092 NA NA NA NA NA 0.304 NA 4 1252 15 22148845 22148845 A G intergenic NF1P2,LOC727924 dist=3043;dist=129187 NA NA ncRNA_intronic ENSG00000258997 NA NA NA NA NA 15q11.2 NA NA NA NA rs1841470 0.58 0.58 0.58 NA NA NA NA NA NA 0.65 0.56 0.61 0.48 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.822099 NA NA NA NA NA 0.355 NA 4 1252 15 78272318 78272318 C G intergenic LOC645752,LOC91450 dist=53130;dist=13257 NA NA ncRNA_exonic ENSG00000261143 NA NA NA NA NA 15q24.3 NA NA NA NA rs12439777 0.4 0.4 0.237 NA NA NA NA NA NA 0.36 0.56 0.42 0.24 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014167 NA NA NA NA NA NA NA 4 1252 15 79026183 79026183 G C intergenic CHRNB4,LOC646938 dist=92596;dist=18196 NA NA ncRNA_intronic ENSG00000261303 NA NA NA NA NA 15q25.1 NA NA NA NA rs3971855 NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.153911 NA NA NA NA NA 0.014 NA 4 1252 15 80478374 80478374 C T intronic FAH NA NA NA intronic ENSG00000103876 NA NA NA NA NA 15q25.1 NA NA NA NA rs56793941 0.02 0.02 0.025 0.0283546 NA NA 0.0029 0.1059 NA NA NA 0.0028 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945436 NA NA NA NA NA 0.043 NA 4 1252 15 81575231 81575231 G A intronic IL16 NA NA NA intronic ENSG00000172349 NA NA NA NA NA 15q25.1 NA NA NA NA rs115472777 0.01 0.01 0.013 0.0177716 NA NA 0.0014 0.0666 NA NA NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.953444 NA NA NA NA NA 0.022 NA 4 1252 16 15082021 15082021 G A intronic PDXDC1 NA NA NA intronic ENSG00000179889 NA NA NA NA NA 16p13.11 NA NA NA NA rs55973981 0.28 0.28 0.223 NA NA NA NA NA NA 0.24 0.45 0.3 0.12 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202992 NA NA NA NA NA 0.312 NA 4 1252 16 16459342 16459342 C T intergenic PKD1P1,XYLT1 dist=14877;dist=736839 NA NA ncRNA_exonic ENSG00000227827 NA NA NA NA NA 16p13.11 NA NA NA NA rs62032870 NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361241 NA NA NA NA NA NA NA 4 1252 16 32403349 32403349 T G intergenic LOC390705,TP53TG3 dist=102047;dist=281500 NA NA ncRNA_intronic ENSG00000260866 NA NA NA NA NA 16p11.2 NA NA NA NA rs12600022 NA NA 0.197 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124772 NA NA NA NA NA 0.065 NA 4 1252 16 32616275 32616275 C G intergenic LOC390705,TP53TG3 dist=314973;dist=68574 NA NA ncRNA_exonic ENSG00000259966 NA NA NA NA NA 16p11.2 NA NA NA NA rs1505124 NA NA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487349 NA NA NA NA NA 0.435 NA 4 1252 16 32621754 32621754 G A intergenic LOC390705,TP53TG3 dist=320452;dist=63095 NA NA ncRNA_exonic ENSG00000259966 NA NA NA NA NA 16p11.2 NA NA NA NA rs2135086 NA NA 0.401 NA NA NA NA NA NA NA NA NA NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300378 NA NA NA NA NA 0.435 NA 4 1252 16 32626312 32626312 C T intergenic LOC390705,TP53TG3 dist=325010;dist=58537 NA NA ncRNA_exonic ENSG00000259966 NA NA NA NA NA 16p11.2 NA NA NA NA rs1827716 NA NA 0.378 NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655282 NA NA NA NA NA 0.391 NA 4 1252 16 32823611 32823611 T C intergenic TP53TG3,SLC6A10P dist=136163;dist=65186 NA NA ncRNA_intronic ENSG00000260158 NA NA NA NA NA 16p11.2 NA NA NA NA rs62049069 NA NA 0.174 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.549335 NA NA NA NA NA NA NA 4 1252 16 33371484 33371484 T G intergenic LOC390705,RNU6-76P dist=72782;dist=92023 NA NA ncRNA_intronic ENSG00000261405 NA NA NA NA NA 16p11.2 NA NA NA NA rs11643832 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359098 NA NA NA NA NA 0.283 NA 4 1252 16 33371537 33371537 T G intergenic LOC390705,RNU6-76P dist=72835;dist=91970 NA NA ncRNA_intronic ENSG00000261405 NA NA NA NA NA 16p11.2 NA NA NA NA rs1007145 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799845 NA NA NA NA NA 0.486 NA 4 1252 16 33404815 33404815 A C intergenic LOC390705,RNU6-76P dist=106113;dist=58692 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs7186202 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284166 NA NA NA NA NA 0.065 NA 4 1252 16 33412679 33412679 G A intergenic LOC390705,RNU6-76P dist=113977;dist=50828 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs4985254 NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324349 1.324349 NA NA NA NA 0.333 NA 4 1252 16 33412812 33412812 C G intergenic LOC390705,RNU6-76P dist=114110;dist=50695 NA NA ncRNA_exonic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs7403931 NA NA 0.395 NA NA NA NA NA NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.10559 NA NA NA NA NA 0.355 NA 4 1252 16 33413878 33413878 G A intergenic LOC390705,RNU6-76P dist=115176;dist=49629 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs7184717 NA NA 0.529 NA NA NA NA NA NA NA NA NA NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437479 NA NA NA NA NA 0.37 NA 4 1252 16 33413927 33413927 G A intergenic LOC390705,RNU6-76P dist=115225;dist=49580 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs7184676 NA NA 0.597 NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850302 NA NA NA NA NA 0.341 NA 4 1252 16 33413957 33413957 C T intergenic LOC390705,RNU6-76P dist=115255;dist=49550 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs28392505 NA NA 0.65 NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813689 NA NA NA NA NA 0.341 NA 4 1252 16 33414214 33414214 C G intergenic LOC390705,RNU6-76P dist=115512;dist=49293 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs12445102 NA NA 0.561 NA NA NA NA NA NA NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245297 NA NA NA NA NA 0.355 NA 4 1252 16 33414234 33414234 C T intergenic LOC390705,RNU6-76P dist=115532;dist=49273 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs12448077 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445321 NA NA NA NA NA 0.362 NA 4 1252 16 33414269 33414269 T G intergenic LOC390705,RNU6-76P dist=115567;dist=49238 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs9926582 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247674 NA NA NA NA NA 0.464 NA 4 1252 16 33414277 33414277 C T intergenic LOC390705,RNU6-76P dist=115575;dist=49230 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs12448049 NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27863 NA NA NA NA NA 0.464 NA 4 1252 16 33525974 33525974 G A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=25003;dist=45914 NA NA NA NA 16p11.2 NA NA NA NA rs28522853 NA NA 0.376 NA NA NA NA NA NA NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799 NA NA NA NA NA 0.333 NA 4 1252 16 33526073 33526073 T A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=25102;dist=45815 NA NA NA NA 16p11.2 NA NA NA NA rs28630636 NA NA 0.372 NA NA NA NA NA NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575891 NA NA NA NA NA 0.362 NA 4 1252 16 33526126 33526126 A G ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=25155;dist=45762 NA NA NA NA 16p11.2 NA NA NA NA rs56077592 NA NA 0.384 NA NA NA NA NA NA NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866103 NA NA NA NA NA 0.42 NA 4 1252 16 33527606 33527606 G A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=26635;dist=44282 NA NA NA NA 16p11.2 NA NA NA NA rs4115102 NA NA 0.403 NA NA NA NA NA NA NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519065 NA NA NA NA NA 0.413 NA 4 1252 16 33527802 33527802 G A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=26831;dist=44086 NA NA NA NA 16p11.2 NA NA NA NA rs3843958 NA NA 0.404 NA NA NA NA NA NA NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.700739 NA NA NA NA NA 0.391 NA 4 1252 16 33544214 33544214 T A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=43243;dist=27674 NA NA NA NA 16p11.2 NA NA NA NA rs12162076 NA NA 0.339 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330943 NA NA NA NA NA NA NA 4 1252 16 33544216 33544216 T A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=43245;dist=27672 NA NA NA NA 16p11.2 NA NA NA NA rs12162077 NA NA 0.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754583 NA NA NA NA NA NA NA 4 1252 16 33544275 33544275 G T ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=43304;dist=27613 NA NA NA NA 16p11.2 NA NA NA NA rs12162029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.319749 NA 1 NA NA NA NA NA 4 1252 16 33547962 33547962 T C ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=46991;dist=23926 NA NA NA NA 16p11.2 NA NA NA NA rs74596538 NA NA 0.583 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451697 1.451697 NA NA NA NA 0.268 NA 4 1252 16 33547966 33547966 G A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=46995;dist=23922 NA NA NA NA 16p11.2 NA NA NA NA rs78448652 NA NA 0.595 NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355802 1.355802 NA NA NA NA 0.268 NA 4 1252 16 33548013 33548013 T G ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=47042;dist=23875 NA NA NA NA 16p11.2 NA NA NA NA rs80024711 NA NA 0.329 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289841 NA 0.14 NA NA NA NA NA 4 1252 16 33548025 33548025 A C ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=47054;dist=23863 NA NA NA NA 16p11.2 NA NA NA NA rs74768650 NA NA 0.262 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976731 NA 1 NA NA NA NA NA 4 1252 16 33548046 33548046 T C ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=47075;dist=23842 NA NA NA NA 16p11.2 NA NA NA NA rs28449878 NA NA 0.486 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988483 NA NA NA NA NA 0.043 NA 4 1252 16 33548084 33548084 A G ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=47113;dist=23804 NA NA NA NA 16p11.2 NA NA NA NA rs77515676 NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644983 NA NA NA NA NA 0.007 NA 4 1252 16 33548091 33548091 G A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=47120;dist=23797 NA NA NA NA 16p11.2 NA NA NA NA rs79448546 NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.102236 NA NA NA NA NA 0.007 NA 4 1252 16 33548115 33548115 G A ncRNA_intronic RNU6-76P NA NA NA intergenic ENSG00000260518,ENSG00000261580 dist=47144;dist=23773 NA NA NA NA 16p11.2 NA NA NA NA rs79602761 NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478836 NA NA NA NA NA 0.007 NA 4 1252 16 70164248 70164248 T C intronic PDPR NA NA NA intronic ENSG00000090857 NA NA NA NA NA 16q22.1 NA NA NA NA rs7206450 NA NA 0.305 NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796494 NA NA NA NA NA 0.043 NA 4 1252 16 70177618 70177618 G A intronic PDPR NA NA NA intronic ENSG00000090857 NA NA NA NA NA 16q22.1 NA NA NA NA rs7191901 NA NA 0.244 NA NA NA NA NA NA NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811616 NA NA NA NA NA 0.326 NA 4 1252 16 80719086 80719086 G C intronic CDYL2 NA NA NA intronic ENSG00000166446 NA NA NA NA NA 16q23.2 NA NA NA NA rs8047798 0.46 0.46 0.469 NA NA NA NA NA NA 0.64 0.29 0.46 0.37 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490399 NA NA NA NA NA 0.558 NA 4 1252 17 10258155 10258155 T C intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs5010940 NA NA NA 0.00439297 NA NA 0.0014 0.0151 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648574 NA NA NA NA NA NA NA 4 1252 17 16745092 16745092 G A intergenic KRT16P2,TNFRSF13B dist=8945;dist=97306 NA NA ncRNA_exonic ENSG00000131885 NA NA NA NA NA 17p11.2 NA NA NA NA rs590673 0.9 0.9 0.873 NA NA NA NA NA NA 0.84 0.98 0.91 0.91 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591318 NA NA NA NA NA NA NA 4 1252 17 21201550 21201550 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs8072228 NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671047 NA NA NA NA NA 0.326 NA 4 1252 17 21201579 21201579 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs11651154 NA NA 0.335 NA NA NA NA NA NA NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81877 NA NA NA NA NA 0.196 NA 4 1252 17 21201851 21201851 A G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs8072386 NA NA 0.43 0.000599042 NA NA NA 0.0023 NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484864 NA NA NA NA NA 0.457 NA 4 1252 17 21202102 21202102 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs35701021 NA NA 0.42 0.0061901 NA 0.006 NA 0.0189 NA NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850181 NA NA NA NA NA 0.377 NA 4 1252 17 21204437 21204437 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs76549047 NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092705 NA NA NA NA NA 0.478 NA 4 1252 17 21204441 21204441 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs78162711 NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239629 NA NA NA NA NA 0.478 NA 4 1252 17 21205396 21205396 C A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs75974715 NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321337 NA NA NA NA NA 0.435 NA 4 1252 17 21206616 21206616 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs57761454 NA NA NA 0.00239617 NA NA NA 0.0091 NA NA NA NA NA NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694256 NA NA NA NA NA 0.42 NA 4 1252 17 21206635 21206635 T A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs77285979 NA NA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973894 NA NA NA NA NA 0.457 NA 4 1252 17 21206642 21206642 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs59259996 NA NA 0.334 0.00419329 NA 0.0179 NA NA 0.0031 NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436643 NA NA NA NA NA 0.457 NA 4 1252 17 21207602 21207602 C G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs55677712 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519711 NA NA NA NA NA 0.464 NA 4 1252 17 21207649 21207649 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs56342308 NA NA 0.56 NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.151272 NA NA NA NA NA 0.5 NA 4 1252 17 21217397 21217397 A G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1657685 NA NA 0.43 0.00259585 NA NA NA NA 0.0133 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315069 NA NA NA NA NA 0.5 NA 4 1252 17 21217400 21217400 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1622401 NA NA 0.43 0.00259585 NA NA NA NA 0.0133 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147933 NA NA NA NA NA 0.5 NA 4 1252 17 21312542 21312542 G T intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA NA NA NA rs73979842 NA NA NA 0.00599042 NA 0.0228 0.0014 0.003 0.002 NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858683 NA NA NA NA NA 0.094 NA 4 1252 17 21312562 21312562 G A intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA NA NA NA rs73312149 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571353 NA NA NA NA NA 0.065 NA 4 1252 17 21312585 21312585 G A intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA NA NA NA rs1714900 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446214 NA NA NA NA NA 0.072 NA 4 1252 17 21312609 21312609 A T intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA NA NA NA rs1657720 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067449 NA NA NA NA NA 0.152 NA 4 1252 17 21318588 21318588 C G intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA NA NA NA rs77791524 NA NA 0.154 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138401 NA NA NA NA NA NA NA 4 1252 17 21544395 21544395 T C intergenic C17orf51,FAM27L dist=89454;dist=280975 NA NA ncRNA_intronic ENSG00000265019 NA NA NA NA NA 17p11.2 NA NA NA NA rs9674474 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329132 NA NA NA NA NA 0.123 NA 4 1252 17 44782279 44782279 C G intronic NSF NA NA NA intronic ENSG00000073969 NA NA NA NA NA 17q21.31 NA NA NA NA rs62074084 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.872194 NA NA NA NA NA 0.014 NA 4 1252 17 45095092 45095092 G A intergenic RPRML,CDC27 dist=38478;dist=100219 NA NA ncRNA_exonic ENSG00000263142 NA NA NA NA NA 17q21.32 NA NA NA NA rs117595416 0.09 0.09 0.076 NA NA NA NA NA NA 0.08 0.13 0.09 0.06 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274139 NA NA NA NA NA NA NA 4 1252 17 62020572 62020572 C G intronic SCN4A NA NA NA intronic ENSG00000007314 NA NA NA NA NA 17q23.3 NA NA NA NA rs113825196 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.133358 NA NA NA NA NA 0.007 NA 4 1252 17 66145600 66145600 A G intergenic LINC00674,LOC440461 dist=13530;dist=49201 NA NA ncRNA_intronic ENSG00000267023 NA NA NA NA NA 17q24.2 NA NA NA NA rs7221552 0.04 0.04 0.029 0.047524 NA 0.001 0.0202 0.1672 0.002 NA NA 0.03 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610655 NA NA NA NA NA 0.109 NA 4 1252 17 66147505 66147505 C A intergenic LINC00674,LOC440461 dist=15435;dist=47296 NA NA ncRNA_intronic ENSG00000267023 NA NA NA NA NA 17q24.2 NA NA NA NA rs7210941 0.03 0.03 0.032 0.0441294 NA NA 0.0159 0.1589 NA NA NA 0.03 0.13 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048109 NA NA NA NA NA 0.109 NA 4 1252 17 76430004 76430004 A G intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs7217888 0.33 0.33 0.117 NA NA NA NA NA NA 0.3 0.4 0.36 0.29 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.0053 NA NA NA NA NA 0.029 NA 4 1252 17 77079755 77079755 C T intronic ENGASE NA NA NA intronic ENSG00000167280 NA NA NA NA NA 17q25.3 NA NA NA NA rs2001248 0.08 0.08 NA NA NA NA NA NA NA 0.11 0.04 0.14 0.05 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648018 NA NA NA NA NA 0.138 NA 4 1252 17 78674429 78674429 C T intronic RPTOR NA NA NA intronic ENSG00000141564 NA NA NA NA NA 17q25.3 NA NA NA NA rs374521049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961354 NA NA NA NA NA 0.007 NA 4 1252 18 12976 12976 C T intergenic NONE,ROCK1P1 dist=NONE;dist=96089 NA NA ncRNA_intronic ENSG00000262352 NA NA NA NA NA 18p11.32 NA NA NA NA rs9966994 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717628 NA NA NA NA NA 0.514 NA 4 1252 18 47563157 47563157 T C intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs73444770 0.01 0.01 0.009 0.00838658 NA NA 0.0014 0.031 NA NA NA 0.0028 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138451 NA NA NA NA NA 0.022 NA 4 1252 18 57136943 57136943 G A intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs650033 0.39 0.39 0.405 NA NA NA NA NA NA 0.44 0.42 0.32 0.35 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258621 NA NA NA NA NA 0.428 NA 4 1252 19 580841 580841 C T intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA NA NA rs28992476 0.11 0.11 0.009 NA NA NA NA NA NA 0.08 0.14 0.1 0.13 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552182 NA NA NA NA NA NA NA 4 1252 19 9585077 9585077 C A intronic ZNF560 NA NA NA intronic ENSG00000198028 NA NA NA NA NA 19p13.2 NA NA NA NA rs6512167 0.04 0.04 0.042 0.0523163 NA 0.001 0.0115 0.1914 NA NA 0.0017 0.01 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215255 NA NA NA NA NA 0.123 NA 4 1252 19 15788996 15788996 G A intronic CYP4F12 NA NA NA intronic ENSG00000186204 NA NA NA NA NA 19p13.12 NA NA NA NA rs28523893 0.38 0.38 0.355 NA NA NA NA NA NA 0.22 0.72 0.32 0.25 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820441 NA NA NA NA NA 0.283 NA 4 1252 19 15789297 15789297 A G intronic CYP4F12 NA NA NA intronic ENSG00000186204 NA NA NA NA NA 19p13.12 NA NA NA NA rs34161514 0.08 0.08 0.058 NA NA NA NA NA NA 0.12 0.05 0.12 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467851 NA NA NA NA NA 0.101 NA 4 1252 19 20211423 20211423 G C intronic ZNF90 NA NA NA intronic ENSG00000213988 NA NA NA NA NA 19p12 NA NA NA NA rs7249965 0.11 0.11 0.103 NA NA NA NA NA NA 0.02 0.24 0.11 0.11 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735663 NA NA NA NA NA 0.094 NA 4 1252 19 21749327 21749327 A T intergenic ZNF429,ZNF100 dist=28248;dist=157516 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs73025825 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748794 NA NA NA NA NA 0.007 NA 4 1252 19 21749356 21749356 A G intergenic ZNF429,ZNF100 dist=28277;dist=157487 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs79693354 NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.865058 NA NA NA NA NA 0.007 NA 4 1252 19 21749413 21749413 T C intergenic ZNF429,ZNF100 dist=28334;dist=157430 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs76595644 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670455 NA NA NA NA NA NA NA 4 1252 19 21749416 21749416 C G intergenic ZNF429,ZNF100 dist=28337;dist=157427 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs75172356 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615558 NA NA NA NA NA NA NA 4 1252 19 21749427 21749427 T G intergenic ZNF429,ZNF100 dist=28348;dist=157416 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs115270210 NA NA 0.15 0.000199681 NA NA NA 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637154 NA NA NA NA NA NA NA 4 1252 19 21749435 21749435 T C intergenic ZNF429,ZNF100 dist=28356;dist=157408 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs76862498 NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795969 NA NA NA NA NA NA NA 4 1252 19 21749529 21749529 T C intergenic ZNF429,ZNF100 dist=28450;dist=157314 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs76013465 NA NA 0.134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61171 NA NA NA NA NA NA NA 4 1252 19 21751847 21751847 G C intergenic ZNF429,ZNF100 dist=30768;dist=154996 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs73025873 NA NA 0.156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946484 NA NA NA NA NA NA NA 4 1252 19 22255499 22255499 A G intronic ZNF257 NA NA NA intronic ENSG00000197134 NA NA NA NA NA 19p12 NA NA NA NA rs114737094 0.02 0.02 0.017 0.0181709 NA NA 0.0043 0.0666 NA NA NA 0.01 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669489 NA NA NA NA NA 0.022 NA 4 1252 19 43439332 43439332 C T intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs112589203 NA NA 0.222 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611201 NA NA NA NA NA NA NA 4 1252 19 43439363 43439363 G C intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs73037507 NA NA 0.243 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420248 NA NA NA NA NA NA NA 4 1252 19 43439364 43439364 G A intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs73037508 NA NA 0.239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474442 NA NA NA NA NA NA NA 4 1252 19 49671089 49671089 C T intronic TRPM4 NA NA NA intronic ENSG00000130529 NA NA NA NA NA 19q13.33 NA NA NA NA rs71352733 0.24 0.24 0.11 NA NA NA NA NA NA 0.28 0.19 0.23 0.23 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.940431 NA NA NA NA NA 0.014 NA 4 1252 19 49691822 49691822 T C intronic TRPM4 NA NA NA intronic ENSG00000130529 NA NA NA NA NA 19q13.33 NA NA NA NA rs909010 0.33 0.33 0.298 NA NA NA NA NA NA 0.32 0.22 0.32 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578066 NA NA NA NA NA 0.348 NA 4 1252 19 53050993 53050993 T G intronic ZNF808 NA NA NA intronic ENSG00000198482 NA NA NA NA NA 19q13.41 NA NA NA NA rs73934558 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56148 NA NA NA NA NA 0.138 NA 4 1252 19 55209195 55209195 C A intergenic LILRB4,LILRP2 dist=29349;dist=10406 NA NA ncRNA_exonic ENSG00000186152 NA NA NA NA NA 19q13.42 NA NA NA NA rs16985866 NA NA 0.165 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08854 NA NA NA NA NA NA NA 4 1252 20 2596969 2596969 T A intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs4621228 0.57 0.57 0.555 NA NA NA NA NA NA 0.65 0.56 0.64 0.4 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258548 NA NA NA NA NA 0.449 NA 4 1252 20 42747091 42747091 G T intronic JPH2 NA NA NA intronic ENSG00000149596 NA NA NA NA NA 20q13.12 NA NA NA NA rs144721330 0.0009 0.0009 0.001 0.00159744 NA NA 0.0043 NA 0.0051 NA NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822326 NA NA NA NA NA NA NA 4 1252 21 10899813 10899813 A T intergenic TEKT4P2,TPTE dist=931220;dist=6930 NA NA ncRNA_intronic ENSG00000223925 NA NA NA NA NA 21p11.2 NA NA NA NA rs28440964 NA NA 0.678 NA NA NA NA NA NA NA NA NA NA NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283652 NA NA NA NA NA 0.594 NA 4 1252 21 10908767 10908767 C T intronic TPTE NA NA NA intronic ENSG00000166157 NA NA NA NA NA 21p11.1 NA NA NA NA rs4913632 NA NA 0.149 NA NA NA NA NA NA NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016691 NA NA NA NA NA 0.152 NA 4 1252 21 10935116 10935116 T G intronic TPTE NA NA NA intronic ENSG00000166157 NA NA NA NA NA 21p11.1 NA NA NA NA rs625018 NA NA 0.418 NA NA NA NA NA NA NA NA NA NA NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486165 NA NA NA NA NA 0.304 NA 4 1252 21 11180808 11180808 T C intergenic BAGE,NONE dist=81871;dist=NONE NA NA ncRNA_intronic ENSG00000271308 NA NA NA NA NA 21p11.1 NA NA NA NA rs1963737 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291389 NA NA NA NA NA 0.435 NA 4 1252 21 38469017 38469017 T G intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835601 0.42 0.42 0.43 NA NA NA NA NA NA 0.53 0.36 0.4 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.608957 1.608957 NA NA NA NA 0.333 NA 4 1252 21 43999749 43999749 G A intronic SLC37A1 NA NA NA intronic ENSG00000160190 NA NA NA NA NA 21q22.3 NA NA NA NA rs8128696 0.02 0.02 0.023 0.0233626 NA NA 0.0072 0.0847 NA NA NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570667 NA NA NA NA NA 0.022 NA 4 1252 22 16350323 16350323 T C intergenic POTEH,OR11H1 dist=62386;dist=98501 NA NA ncRNA_intronic ENSG00000224435 NA NA NA NA NA 22q11.1 NA NA NA NA rs2188785 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.098877 NA NA NA NA NA 0.297 NA 4 1252 22 16350350 16350350 G A intergenic POTEH,OR11H1 dist=62413;dist=98474 NA NA ncRNA_intronic ENSG00000224435 NA NA NA NA NA 22q11.1 NA NA NA NA rs368298595 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.676063 NA NA NA NA NA 0.014 NA 4 1252 22 16350425 16350425 C T intergenic POTEH,OR11H1 dist=62488;dist=98399 NA NA ncRNA_intronic ENSG00000224435 NA NA NA NA NA 22q11.1 NA NA NA NA rs2188786 NA NA 0.544 NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.61773 NA NA NA NA NA 0.029 NA 4 1252 22 16868619 16868619 G C intergenic OR11H1,CCT8L2 dist=418815;dist=203029 NA NA ncRNA_intronic ENSG00000225293 NA NA NA NA NA 22q11.1 NA NA NA NA rs62223287 NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76805 NA NA NA NA NA NA NA 4 1252 22 17586614 17586614 G C intronic IL17RA NA NA NA intronic ENSG00000177663 NA NA NA NA NA 22q11.1 NA NA NA NA rs35078252 NA NA NA 0.000998403 NA 0.001 NA 0.0023 0.001 NA NA NA NA NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.013073 NA NA NA NA NA 0.471 NA 4 1252 22 20473206 20473206 C T intergenic RIMBP3,ZNF74 dist=11420;dist=275199 NA NA ncRNA_exonic ENSG00000236984 NA NA NA NA NA 22q11.21 NA NA NA NA rs2551550 0.73 0.73 0.693 NA NA NA NA NA NA 0.77 0.79 0.79 0.54 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082076 NA NA NA NA NA 0.051 NA 4 1252 22 20473225 20473225 T C intergenic RIMBP3,ZNF74 dist=11439;dist=275180 NA NA ncRNA_exonic ENSG00000236984 NA NA NA NA NA 22q11.21 NA NA NA NA rs2845429 0.73 0.73 0.678 NA NA NA NA NA NA 0.77 0.8 0.79 0.52 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126983 NA NA NA NA NA 0.051 NA 4 1252 22 21344032 21344032 C T intronic LZTR1 NA NA NA intronic ENSG00000099949 NA NA NA NA NA 22q11.21 NA NA NA NA rs7410559 0.44 0.44 0.44 NA NA NA NA NA NA 0.49 0.4 0.48 0.4 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788529 NA NA NA NA NA 0.08 NA 4 1252 22 50959796 50959796 A T intronic NCAPH2 NA NA NA intronic ENSG00000025770 NA NA NA NA NA 22q13.33 NA NA NA NA rs56228847 0.29 0.29 0.19 NA NA NA NA NA NA 0.29 0.34 0.26 0.25 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.851409 NA NA NA NA NA NA NA 4 1252 X 205300 205300 C T intronic PLCXD1 NA NA NA intronic ENSG00000182378 NA NA NA NA NA Xp22.33 NA NA NA NA rs6644969 0.41 0.41 0.41176 NA NA NA NA NA NA 0.49 0.58 0.41 0.06 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833664 NA NA NA NA NA 0.326 NA 4 1252 X 301402 301402 T A intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs2738367 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335834 NA NA NA NA NA 0.007 NA 4 1252 X 301796 301796 G A intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs111876222 0.24 0.24 0.2194 NA NA NA NA NA NA 0.31 0.23 0.24 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670535 NA NA NA NA NA 0.029 NA 4 1252 X 301912 301912 G A intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs188531073 0.03 0.03 NA NA NA NA NA NA NA 0.0013 0.01 0.02 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856461 NA NA NA NA NA NA NA 4 1252 X 302533 302533 A G intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs6603234 0.36 0.36 0.3593 NA NA NA NA NA NA 0.32 0.4 0.28 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647648 NA NA NA NA NA 0.348 NA 4 1252 X 322386 322386 C T intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs28713649 0.26 0.26 0.28935 NA NA NA NA NA NA 0.35 0.22 0.28 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612429 NA NA NA NA NA 0.254 NA 4 1252 X 484552 484552 C T intergenic PPP2R3B,SHOX dist=136862;dist=100527 NA NA ncRNA_exonic ENSG00000234958 NA NA NA NA NA Xp22.33 NA NA NA NA rs5950734 0.58 0.58 0.56836 NA NA NA NA NA NA 0.5 0.98 0.59 0.25 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869695 NA NA NA NA NA 0.442 NA 4 1252 X 1404910 1404910 C A intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs28521253 0.36 0.36 0.20668 NA NA NA NA NA NA 0.41 0.35 0.39 0.27 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982706 NA NA NA NA NA 0.304 NA 4 1252 X 1404964 1404964 A G intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs28505671 0.53 0.53 0.43005 NA NA NA NA NA NA 0.53 0.36 0.52 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743683 NA NA NA NA NA 0.551 NA 4 1252 X 1407273 1407273 G A intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs34442542 0.24 0.24 0.21781 NA NA NA NA NA NA 0.25 0.31 0.33 0.08 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802436 NA NA NA NA NA 0.188 NA 4 1252 X 1407281 1407281 G A intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs35118829 0.44 0.44 0.2186 NA NA NA NA NA NA 0.48 0.55 0.61 0.1 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014362 NA NA NA NA NA 0.362 NA 4 1252 X 1407332 1407332 G A intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs77140452 0.21 0.21 NA NA NA NA NA NA NA 0.22 0.31 0.27 0.01 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877203 NA NA NA NA NA NA NA 4 1252 X 1414225 1414225 C T intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs28694718 0.28 0.28 NA NA NA NA NA NA NA 0.36 0.21 0.22 0.27 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066 NA NA NA NA NA 0.203 NA 4 1252 X 1467219 1467219 G C intronic IL3RA NA NA NA intronic ENSG00000185291 NA NA NA NA NA Xp22.33 NA NA NA NA rs17885427 0.57 0.57 0.52544 NA NA NA NA NA NA 0.57 0.62 0.49 0.56 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028773 NA NA NA NA NA 0.514 NA 4 1252 X 1718008 1718008 T G intronic AKAP17A,ASMT NA NA NA intronic ENSG00000197976 NA NA NA NA NA Xp22.33 NA NA NA NA rs28513563 0.73 0.73 0.75755 NA NA NA NA NA NA 0.7 0.64 0.62 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722404 NA NA NA NA NA 0.812 NA 4 1252 X 2832871 2832871 A G intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs115343387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008803 NA NA NA NA NA NA NA 4 1252 Y 3720277 3720277 T G intergenic TGIF2LY,PCDH11Y dist=272195;dist=1147990 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA rs7067239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343277 NA NA NA NA NA NA NA 4 1252 Y 3720302 3720302 G A intergenic TGIF2LY,PCDH11Y dist=272220;dist=1147965 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA rs6530622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699965 NA NA NA NA NA NA NA 4 1252 Y 3720319 3720319 A C intergenic TGIF2LY,PCDH11Y dist=272237;dist=1147948 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA rs7067364 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630541 NA NA NA NA NA NA NA 4 1252 Y 3720336 3720336 G A intergenic TGIF2LY,PCDH11Y dist=272254;dist=1147931 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA rs35660147 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749781 NA NA NA NA NA 0.007 NA 4 1252 Y 3720463 3720463 G A intergenic TGIF2LY,PCDH11Y dist=272381;dist=1147804 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA rs7892911 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762292 NA NA NA NA NA NA NA 4 1252 Y 3720464 3720464 C A intergenic TGIF2LY,PCDH11Y dist=272382;dist=1147803 NA NA ncRNA_exonic ENSG00000218410 NA NA NA NA NA Yp11.2 NA NA NA NA rs7892879 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818508 NA NA NA NA NA NA NA 4 1252 Y 13488484 13488484 T G intergenic NONE,GYG2P1 dist=NONE;dist=1029431 NA NA ncRNA_exonic ENSG00000258991 NA NA NA NA NA Yq11.21 NA NA NA NA rs80099444 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337087 NA NA NA NA NA NA NA 4 1252 17 78971155 78971155 C A intronic CHMP6 NA NA NA intronic ENSG00000176108 NA NA NA NA NA 17q25.3 NA NA NA NA rs199925280 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001201 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.797141 NA NA NA NA NA NA NA 3.999988 1252 12 121164787 121164787 C T intronic ACADS NA NA NA intronic ENSG00000122971 NA NA NA NA NA 12q24.31 NA NA NA NA rs200365221 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00004947 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465849 NA NA NA NA NA NA NA 3.9999505 1252 2 50733595 50733595 G A intronic NRXN1 NA NA NA intronic ENSG00000179915 NA NA NA NA NA 2p16.3 NA NA NA NA rs200210892 0.0009 0.0009 NA 0.000199681 NA NA NA 0.0008 NA NA NA 0.0028 0.002 0.00005447 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322304 NA NA NA NA NA NA NA 3.9999455 1252 11 103182795 103182795 G A intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs200658596 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00008316 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448944 NA NA NA NA NA NA NA 3.9999168 1252 19 1399089 1399089 G A intronic GAMT NA NA NA intronic ENSG00000130005 NA NA NA NA NA 19p13.3 NA NA NA NA rs369176910 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.00009124 0.0007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.879688 1.879688 NA 0 0.000681 NA NA NA 3.9999088 1252 2 46609271 46609271 G A intronic EPAS1 NA NA NA intronic ENSG00000116016 NA NA NA NA NA 2p21 NA NA NA NA rs368248400 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001037 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819034 NA NA 0.000116 0 NA NA NA 3.9998736 1252 2 54040050 54040050 A G intronic ERLEC1,GPR75-ASB3 NA NA NA intronic ENSG00000068912,ENSG00000115239,ENSG00000270898 NA NA NA NA NA 2p16.2 NA NA NA NA rs371472899 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001664 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.65668 3.65668 NA 0.000116 0 NA NA NA 3.9998674 1252 11 103124218 103124218 A G intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs369158021 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000506 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132908 NA NA 0.000123 0 NA NA NA 3.9998264 1252 3 33416741 33416741 G C intronic FBXL2 NA NA NA intronic ENSG00000153558 NA NA NA NA NA 3p22.3 NA NA NA NA rs193175351 0.0005 0.0005 NA 0.000399361 NA NA 0.0029 NA NA NA NA 0.0028 NA 0.0002 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149869 NA NA NA NA NA NA NA 3.9998 1252 3 75986719 75986719 G C intergenic ZNF717,ROBO2 dist=152464;dist=1102575 NA NA exonic ENSG00000185008 NA synonymous SNV ENSG00000185008:ENST00000487694:exon2:c.G75C:p.V25V,ENSG00000185008:ENST00000602589:exon2:c.G75C:p.V25V NA NA 3p12.3 NA NA NA NA rs62269818 NA NA 0.273 NA NA NA NA NA NA NA NA NA NA 0.5002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.420247 NA NA NA NA NA NA NA 3.9998 1252 11 6478494 6478494 C T intronic TRIM3 NA NA NA intronic ENSG00000110171 NA NA NA NA NA 11p15.4 NA NA NA NA rs200144942 0.0005 0.0005 NA 0.000199681 NA 0.001 NA NA NA NA 0.0017 NA NA 0.0002 0.0017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.102909 NA NA 0 0.00159 NA NA NA 3.9998 1252 2 219693329 219693329 G A intronic PRKAG3 NA NA NA intronic ENSG00000115592 NA NA NA NA NA 2q35 NA NA NA NA rs376723919 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.044771 NA NA 0.000116 0 NA NA NA 3.999784 1252 7 38805296 38805296 A G intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA NA NA 7p14.1 NA NA NA NA rs375513598 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609116 NA NA 0.000116 0 NA NA NA 3.999784 1252 17 4648256 4648256 C A intronic ZMYND15 NA NA NA intronic ENSG00000141497 NA NA NA NA NA 17p13.2 NA NA NA NA rs368393785 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638384 NA NA 0.000116 0 NA NA NA 3.999784 1252 11 102592080 102592080 T A intronic MMP8 NA NA NA intronic ENSG00000118113 NA NA NA NA NA 11q22.2 NA NA NA NA rs187310211 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86703 NA NA 0.000251 0.001142 NA NA NA 3.999749 1252 4 24875267 24875267 T C intronic CCDC149 NA NA NA intronic ENSG00000181982 NA NA NA NA NA 4p15.2 NA NA NA NA rs374502897 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082073 NA NA 0.000233 0 NA NA NA 3.999667 1252 19 33390924 33390924 G A intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs188560001 0.0023 0.0023 NA 0.00199681 NA NA NA 0.0076 NA NA NA NA 0.01 0.0004 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10036 NA NA 0 0.004312 NA NA NA 3.9996 1252 17 4457281 4457281 C A intronic MYBBP1A NA NA NA intronic ENSG00000132382 NA NA NA NA NA 17p13.2 NA NA NA NA rs370871554 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208105 NA NA 0.000116 0.000227 NA NA NA 3.999584 1252 18 47109922 47109922 G C intronic LIPG NA NA NA intronic ENSG00000101670 NA NA NA NA NA 18q21.1 NA NA NA NA rs374219453 NA NA NA 0.000798722 NA NA NA 0.003 NA NA NA NA NA 0.0003 0.0018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.99652 NA NA 0.000116 0.001816 NA NA NA 3.999584 1252 1 157516713 157516713 C T intronic FCRL5 NA NA NA intronic ENSG00000143297 NA NA NA NA NA 1q23.1 NA NA NA NA rs199512022 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897195 NA NA 0.000233 0 NA NA NA 3.999567 1252 4 38696578 38696578 A G intronic KLF3 NA NA NA intronic ENSG00000109787 NA NA NA NA NA 4p14 NA NA NA NA rs369070711 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.835256 NA NA 0.000233 0 NA NA NA 3.999567 1252 9 140477419 140477419 A G intronic ZMYND19 NA NA NA intronic ENSG00000165724 NA NA NA NA NA 9q34.3 NA NA NA NA rs369697069 NA NA NA 0.000399361 NA NA NA 0.0015 NA NA NA NA NA 0.0002 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675134 NA NA 0.000233 0.000227 NA NA NA 3.999567 1252 10 85910667 85910667 C T intronic GHITM NA NA NA intronic ENSG00000165678 NA NA NA NA NA 10q23.1 NA NA NA NA rs373815298 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43435 NA NA 0.000366 0 NA NA NA 3.999534 1252 18 46956617 46956617 T A intronic DYM NA NA NA intronic ENSG00000141627 NA NA NA NA NA 18q21.1 NA NA NA NA rs199833534 0.0005 0.0005 NA 0.000798722 NA NA NA 0.003 NA NA NA NA 0.002 0.0005 0.0036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.029744 2.029744 NA 0 0.003631 NA NA NA 3.9995 1252 19 3113495 3113495 G A intronic GNA11 NA NA NA intronic ENSG00000088256 NA NA NA NA NA 19p13.3 NA NA NA NA rs371755659 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0001 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031135 NA NA 0.000466 0 NA NA NA 3.999434 1252 12 58009202 58009202 T C intronic ARHGEF25 NA NA NA ncRNA_exonic ENSG00000224713 NA NA NA NA NA 12q13.3 NA NA NA NA rs2277322 0.43 0.43 0.415 0.432109 0.334 0.5754 0.3703 0.3389 0.5552 0.35 0.64 0.35 0.39 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.104738 NA NA NA NA NA 0.413 NA 3.9993333 1252 17 10317125 10317125 G A intronic MYH8 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs11078845 0.49 0.49 0.476 0.510383 0.334 0.876 0.4827 0.2731 0.6554 0.34 0.88 0.48 0.26 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825088 NA NA NA NA NA 0.493 NA 3.9993333 1252 11 65413668 65413668 G A intronic SIPA1 NA NA NA intronic ENSG00000213445 NA NA NA NA NA 11q13.1 NA NA NA NA rs201900465 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160048 NA NA 0.000582 0 NA NA NA 3.999318 1252 6 100898119 100898119 G A intronic SIM1 NA NA NA intronic ENSG00000112246 NA NA NA NA NA 6q16.3 NA NA NA NA rs72939629 0.0009 0.0009 NA 0.00139776 NA NA NA 0.0053 NA NA NA NA 0.0041 0.0005 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327401 NA NA 0.000233 0.002497 NA 0.007 NA 3.999267 1252 11 117052513 117052513 C T intronic SIDT2 NA NA NA intronic ENSG00000149577 NA NA NA NA NA 11q23.3 NA NA NA NA rs183950705 0.0027 0.0027 NA 0.00159744 NA NA 0.0043 0.0038 NA NA NA 0.01 0.01 0.0006 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545536 NA NA 0.000233 0.004543 NA 0.007 NA 3.999167 1252 20 44463550 44463550 T A intronic SNX21 NA NA NA intronic ENSG00000124104 NA NA NA NA NA 20q13.12 NA NA NA NA rs373464176 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45776 NA NA 0.000698 0 NA NA NA 3.999102 1252 21 22849806 22849806 T C intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA NA NA NA rs200552327 0 0 NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0003 0.0006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798111 NA NA 0.000611 0.000546 NA NA NA 3.999089 1252 1 54707096 54707096 C T intronic SSBP3 NA NA NA intronic ENSG00000157216 NA NA NA NA NA 1p32.3 NA NA NA NA rs185969894 0.0009 0.0009 NA 0.00139776 NA NA 0.0014 0.0045 NA NA NA 0.0028 0.002 0.0008 0.007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.888282 NA NA 0.000116 0.007036 NA NA NA 3.999084 1252 1 16890760 16890760 G A intronic NBPF1 NA NA NA intronic ENSG00000219481 NA NA NA NA NA 1p36.13 NA NA NA NA rs1759170 NA NA NA 0.00459265 0.001 NA 0.0029 0.0106 0.0061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838949 NA NA NA NA NA NA NA 3.999 1252 1 55272578 55272578 C T intronic C1orf177 NA NA NA intronic ENSG00000162398 NA NA NA NA NA 1p32.3 NA NA NA NA rs79251775 0.02 0.02 0.021 0.0349441 0.001 NA 0.0029 0.1301 NA NA NA NA 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721492 NA NA NA NA NA 0.036 NA 3.999 1252 1 160850607 160850607 C G intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA NA 1q23.3 NA NA NA NA rs59304310 0.02 0.02 0.026 0.0247604 0.001 NA 0.0101 0.0877 NA 0.0013 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.967031 NA NA NA NA NA 0.014 NA 3.999 1252 1 230845627 230845627 C T intronic AGT NA NA NA intronic ENSG00000135744 NA NA NA NA NA 1q42.2 NA NA NA NA rs61757176 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097506 NA NA NA NA NA NA NA 3.999 1252 4 159493702 159493702 G A intronic RXFP1 NA NA NA intronic ENSG00000171509 NA NA NA NA NA 4q32.1 NA NA NA NA rs80171324 0.04 0.04 0.044 0.0441294 0.001 NA 0.0115 0.1604 NA NA NA 0.01 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041899 NA NA NA NA NA 0.08 NA 3.999 1252 5 52322521 52322521 C T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs140114279 0.01 0.01 0.009 0.00399361 0.001 NA 0.0043 0.0121 NA 0.0013 NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53841 NA NA NA NA NA NA NA 3.999 1252 6 10784886 10784886 C G intronic MAK NA NA NA intronic ENSG00000111837,ENSG00000137210,ENSG00000153157,ENSG00000272162 NA NA NA NA NA 6p24.2 NA NA NA NA rs73721390 0.02 0.02 0.028 0.0249601 0.001 NA 0.0029 0.0923 NA 0.0013 NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656343 NA NA NA NA NA 0.022 NA 3.999 1252 7 142991584 142991584 G A intronic CASP2 NA NA NA intronic ENSG00000106144 NA NA NA NA NA 7q34 NA NA NA NA rs143373919 0.0018 0.0018 0.001 0.00199681 0.001 NA 0.0029 0.0053 NA NA NA 0.0028 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701627 NA NA NA NA NA NA NA 3.999 1252 7 158512542 158512542 T A intergenic NCAPG2,ESYT2 dist=15022;dist=11147 NA NA ncRNA_exonic ENSG00000228030 NA NA NA NA NA 7q36.3 NA NA NA NA rs184687707 0.0023 0.0023 NA 0.00139776 0.001 NA 0.0058 0.0015 NA 0.0026 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172777 NA NA NA NA NA NA NA 3.999 1252 9 130980439 130980439 G A intronic DNM1 NA NA NA intronic ENSG00000106976 NA NA NA NA NA 9q34.11 NA NA NA NA rs187644015 0.0018 0.0018 NA 0.00179712 0.001 NA 0.0029 0.0045 NA NA NA 0.01 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.357072 2.357072 NA NA NA NA NA NA 3.999 1252 10 93609442 93609442 G A intronic TNKS2 NA NA NA intronic ENSG00000107854 NA NA NA NA NA 10q23.32 NA NA NA NA rs190665445 0.0005 0.0005 NA 0.000399361 0.001 NA NA NA 0.001 0.0013 NA NA NA NA 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183509 NA NA NA NA NA NA NA 3.999 1252 11 10653397 10653397 G A intronic MRVI1 NA NA NA intronic ENSG00000072952 NA NA NA NA NA 11p15.4 NA NA NA NA rs186526080 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA NA 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825535 NA NA NA NA NA NA NA 3.999 1252 12 112087679 112087679 T C intronic BRAP NA NA NA intronic ENSG00000089234 NA NA NA NA NA 12q24.12 NA NA NA NA rs185040219 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA NA 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.455705 2.455705 NA NA NA NA NA NA 3.999 1252 16 84488367 84488367 C T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs147087507 0.0009 0.0009 0 0.000798722 0.001 NA NA 0.0008 0.002 0.0013 NA NA 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240607 NA NA NA NA NA 0.007 NA 3.999 1252 17 4908378 4908378 G A intronic KIF1C NA NA NA intronic ENSG00000129250 NA NA NA NA NA 17p13.2 NA NA NA NA rs73345319 0.02 0.02 0.014 0.0249601 0.001 NA 0.0101 0.0885 NA 0.0013 NA 0.01 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373254 NA NA NA NA NA 0.043 NA 3.999 1252 17 5034086 5034086 C T intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 NA NA NA NA rs58062247 0.05 0.05 0.055 0.0692891 0.001 NA 0.0115 0.2557 NA NA NA 0.02 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744862 NA NA NA NA NA 0.072 NA 3.999 1252 17 5040270 5040270 G A intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 NA NA NA NA rs73331371 0.05 0.05 0.048 0.0690895 0.001 NA 0.0115 0.2549 NA NA NA 0.02 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695826 NA NA NA NA NA 0.014 NA 3.999 1252 17 5040555 5040555 G T intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 NA NA NA NA rs58049897 0.05 0.05 0.047 0.0698882 0.001 NA 0.013 0.2549 0.0031 NA NA 0.02 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525717 NA NA NA NA NA 0.007 NA 3.999 1252 17 5047887 5047887 T C intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 NA NA NA NA rs113986008 0.05 0.05 0.048 0.0692891 0.001 NA 0.0115 0.2557 NA NA NA 0.02 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.913502 NA NA NA NA NA 0.014 NA 3.999 1252 17 7140611 7140611 C T intronic PHF23 NA NA NA intronic ENSG00000040633 NA NA NA NA NA 17p13.1 NA NA NA NA rs148834333 0.0005 0.0005 0.001 0.00299521 0.001 NA NA NA 0.0143 0.0013 NA NA NA NA 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917123 NA NA NA NA NA NA NA 3.999 1252 17 73265607 73265607 T C intronic MIF4GD NA NA NA intronic ENSG00000125457 NA NA NA NA NA 17q25.1 NA NA NA NA rs73356377 0.08 0.08 0.084 0.104433 0.001 0.0992 0.072 0.2156 0.089 0.0026 0.06 0.07 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165962 NA NA NA NA NA 0.109 NA 3.999 1252 18 60025375 60025375 C T intronic TNFRSF11A NA NA NA intronic ENSG00000141655 NA NA NA NA NA 18q21.33 NA NA NA NA rs3810024 0.12 0.12 0.112 0.126597 0.001 0.255 0.1066 0.1861 0.0573 NA 0.21 0.11 0.19 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015642 NA NA NA NA NA 0.065 NA 3.999 1252 4 74283242 74283242 T C intronic ALB NA NA NA intronic ENSG00000163631 NA NA NA NA NA 4q13.3 NA NA NA NA rs57705126 0.0014 0.0014 NA 0.00139776 NA NA 0.0014 0.0045 NA NA NA 0.0028 0.0041 0.0009 0.0043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127333 NA NA 0.000116 0.004312 NA NA NA 3.998984 1252 4 74285950 74285950 C A intronic ALB NA NA NA intronic ENSG00000163631 NA NA NA NA NA 4q13.3 NA NA NA NA rs61020873 0.0014 0.0014 NA 0.00119808 NA NA 0.0014 0.0038 NA NA NA 0.0028 0.0041 0.0009 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769081 NA NA 0.000116 0.004543 NA NA NA 3.998984 1252 1 55523891 55523891 G T intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs72646516 0.0037 0.0037 NA 0.00599042 NA NA 0.0014 0.0219 NA NA NA 0.0028 0.01 0.0012 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494396 NA NA 0 0.010899 NA NA NA 3.9988 1252 5 71755984 71755984 C G intronic ZNF366 NA NA NA intronic ENSG00000178175 NA NA NA NA NA 5q13.2 NA NA NA NA rs375204168 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0001 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.455824 1.455824 NA 0.000116 0 NA NA NA 3.998784 1252 15 20876423 20876423 A G ncRNA_intronic NBEAP1 NA NA NA ncRNA_intronic ENSG00000258590 NA NA NA NA NA 15q11.2 NA NA NA NA rs10902996 NA NA 0.241 0.315096 0.3211 0.3681 0.3401 0.23 0.3517 NA NA NA NA 0.347 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022692 NA NA NA NA NA 0.261 NA 3.9985666 1252 5 6739806 6739806 C T intronic PAPD7 NA NA NA intronic ENSG00000112941 NA NA NA NA NA 5p15.31 NA NA NA NA rs201764088 NA NA NA 0.00159744 NA 0.001 NA NA 0.0072 NA NA NA NA 0.0015 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791056 NA NA NA NA NA 0.007 NA 3.9985 1252 4 46053659 46053659 T C intronic GABRG1 NA NA NA intronic ENSG00000163285 NA NA NA NA NA 4p12 NA NA NA NA rs201125055 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858293 NA NA 0.000116 0 NA NA NA 3.998484 1252 14 105911710 105911710 C T intronic MTA1 NA NA NA intronic ENSG00000182979,ENSG00000226174 NA NA NA NA NA 14q32.33 NA NA NA NA rs369490422 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096615 NA NA 0.000465 0 NA NA NA 3.998335 1252 16 28617057 28617057 G A UTR3 SULT1A1 NM_177529:c.*85C>T,NM_177530:c.*85C>T,NM_001055:c.*85C>T,NM_177536:c.*85C>T,NM_177534:c.*85C>T NA NA UTR3 ENSG00000196502 ENST00000350842:c.*85C>T,ENST00000564818:c.*1278C>T,ENST00000562058:c.*1205C>T,ENST00000395607:c.*85C>T,ENST00000395609:c.*85C>T,ENST00000569554:c.*85C>T,ENST00000563493:c.*857C>T,ENST00000314752:c.*85C>T NA NA NA NA 16p11.2 NA NA NA NA rs1042157 0.3 0.3 0.235 0.291134 0.335 0.2659 0.4769 0.2284 0.2249 0.35 0.24 0.38 0.22 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830459 NA NA NA NA NA 0.174 NA 3.9983334 1252 20 31025231 31025231 T C UTR3 ASXL1 NM_015338:c.*90T>C NA NA UTR3 ENSG00000171456 ENST00000375687:c.*90T>C,ENST00000306058:c.*90T>C NA NA NA NA 20q11.21 NA NA NA NA rs2295763 0.41 0.41 0.376 0.39976 0.335 0.7421 0.4078 0.1649 0.4254 0.35 0.74 0.35 0.17 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151797 NA NA NA NA NA 0.203 NA 3.9983334 1252 18 47500699 47500699 C T intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs73959799 0.01 0.01 0.006 0.00698882 NA NA 0.0029 0.025 NA NA NA NA 0.03 0.0014 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446438 NA NA 0.000357 0.012708 NA NA NA 3.998243 1252 2 61463570 61463570 T C intronic USP34 NA NA NA intronic ENSG00000115464 NA NA NA NA NA 2p15 NA NA NA NA rs201798667 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0006 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145963 NA NA 0.000252 0.000566 NA NA NA 3.998148 1252 1 67487074 67487074 T C intronic SLC35D1 NA NA NA intronic ENSG00000116704 NA NA NA NA NA 1p31.3 NA NA NA NA rs11208991 0.02 0.02 0.024 0.0307508 0.002 NA 0.0072 0.1112 NA NA NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134538 NA NA NA NA NA 0.043 NA 3.998 1252 1 89427251 89427251 C T intronic CCBL2 NA NA NA intronic ENSG00000137944 NA NA NA NA NA 1p22.2 NA NA NA NA rs7513592 0.03 0.03 0.028 0.0383387 0.002 NA 0.0159 0.1354 NA 0.0026 NA 0.02 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025671 NA NA NA NA NA 0.029 NA 3.998 1252 1 120056401 120056401 G A intronic HSD3B1 NA NA NA intronic ENSG00000203857 NA NA NA NA NA 1p12 NA NA NA NA rs6673653 0.04 0.04 0.037 0.0529153 0.002 0.0536 0.0403 0.0998 0.0501 NA 0.04 0.04 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50492 NA NA NA NA NA 0.043 NA 3.998 1252 1 183197828 183197828 G A intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA NA NA 1q25.3 NA NA NA NA rs7537499 0.03 0.03 0.038 0.038738 0.002 NA 0.013 0.1384 NA 0.0013 NA 0.01 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661304 NA NA NA NA NA 0.051 NA 3.998 1252 2 182400092 182400092 A G intronic ITGA4 NA NA NA intronic ENSG00000115232 NA NA NA NA NA 2q31.3 NA NA NA NA rs144195027 0.01 0.01 0.004 0.00878594 0.002 NA 0.0101 0.025 0.002 0.0013 NA 0.01 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637345 NA NA NA NA NA 0.007 NA 3.998 1252 3 9803027 9803027 G T intronic CAMK1,OGG1 NA NA NA intronic ENSG00000114026,ENSG00000134072 NA NA NA NA NA 3p25.3 NA NA NA NA rs11715850 0.0009 0.0009 0.001 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25305 NA NA NA NA NA NA NA 3.998 1252 4 165850742 165850742 C T intergenic LOC100506013,TRIM61 dist=32066;dist=24856 NA NA ncRNA_exonic ENSG00000221891 NA NA NA NA NA 4q32.3 NA NA NA NA rs77278655 0.01 0.01 0.009 0.0153754 0.002 NA 0.0072 0.053 NA 0.0026 NA 0.0028 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102277 NA NA NA NA NA NA NA 3.998 1252 5 176295364 176295364 C A intronic UNC5A NA NA NA intronic ENSG00000113763 NA NA NA NA NA 5q35.2 NA NA NA NA rs183051657 0.0027 0.0027 NA 0.00239617 0.002 NA 0.0101 NA 0.0031 0.0013 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098795 NA NA NA NA NA NA NA 3.998 1252 9 100380227 100380227 A G intronic TSTD2 NA NA NA intronic ENSG00000136925 NA NA NA NA NA 9q22.33 NA NA NA NA rs3750370 0.13 0.13 0.126 0.16853 0.002 0.1498 0.1628 0.4191 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709949 NA NA NA NA NA 0.109 NA 3.998 1252 9 100461350 100461350 C T intergenic XPA,FOXE1 dist=1659;dist=154187 NA NA ncRNA_exonic ENSG00000214417 NA NA NA NA NA 9q22.33 NA NA NA NA rs73500392 0.08 0.08 0.091 0.108826 0.002 NA 0.0389 0.3805 0.0133 NA NA 0.03 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87448 NA NA NA NA NA 0.072 NA 3.998 1252 9 100461387 100461387 G T intergenic XPA,FOXE1 dist=1696;dist=154150 NA NA ncRNA_exonic ENSG00000214417 NA NA NA NA NA 9q22.33 NA NA NA NA rs73500393 0.13 0.13 0.116 0.169529 0.002 0.1518 0.1628 0.4213 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968576 NA NA NA NA NA 0.101 NA 3.998 1252 9 100461425 100461425 A G intergenic XPA,FOXE1 dist=1734;dist=154112 NA NA ncRNA_exonic ENSG00000214417 NA NA NA NA NA 9q22.33 NA NA NA NA rs73500396 0.13 0.13 0.107 0.169529 0.002 0.1518 0.1628 0.4213 0.0245 NA 0.11 0.1 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360818 NA NA NA NA NA 0.101 NA 3.998 1252 12 123795516 123795516 T C intronic SBNO1 NA NA NA intronic ENSG00000139697 NA NA NA NA NA 12q24.31 NA NA NA NA rs183544398 0.0014 0.0014 NA 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA 0.002 NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551895 NA NA NA NA NA NA NA 3.998 1252 19 33106460 33106460 G A intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs28412545 0.07 0.07 0.078 0.0802716 0.002 NA 0.0231 0.2905 NA NA NA 0.03 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846786 NA NA NA NA NA 0.08 NA 3.998 1252 22 26894729 26894729 G A intronic TFIP11 NA NA NA intronic ENSG00000100109 NA NA NA NA NA 22q12.1 NA NA NA NA rs117809870 0.0023 0.0023 0.003 0.000798722 0.002 NA 0.0029 NA NA 0.0026 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343611 NA NA NA NA NA NA NA 3.998 1252 3 141932356 141932356 G A intronic GK5 NA NA NA intronic ENSG00000175066 NA NA NA NA NA 3q23 NA Name=Pol2 Name=50 NA rs6440072 0.69 0.69 0.699 0.646565 0.662 0.5308 0.6614 0.8601 0.4509 0.68 0.55 0.7 0.86 0.6514 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631661 NA NA 0.688721 0.835679 NA 0.601 NA 3.997879 1252 15 83790657 83790657 G T intronic TM6SF1 NA NA NA intronic ENSG00000136404,ENSG00000166503 NA NA NA NA NA 15q25.2 NA NA NA NA rs190032138 0.0032 0.0032 NA 0.00439297 NA 0.0079 NA 0.0106 NA NA 0.01 NA 0.01 0.0017 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035141 NA NA 0.000465 0.01158 NA 0.007 NA 3.997835 1252 X 2832860 2832860 G A intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs73632955 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523486 NA NA NA NA NA NA NA 3.9978 1252 11 102586214 102586214 T A intronic MMP8 NA NA NA intronic ENSG00000118113 NA NA NA NA NA 11q22.2 NA NA NA NA rs112478920 0.01 0.01 0.007 0.00539137 NA NA 0.0014 0.0197 NA NA NA 0.0028 0.03 0.0021 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413593 NA NA 0.000116 0.0202 NA NA NA 3.997784 1252 16 1453364 1453364 C T intronic UNKL NA NA NA intronic ENSG00000059145 NA NA NA NA NA 16p13.3 NA NA NA NA rs200129373 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0013 0.0009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.177217 NA NA 0.00093 0.000228 NA NA NA 3.99777 1252 9 101507814 101507814 G A intronic ANKS6 NA NA NA intronic ENSG00000165138 NA NA NA NA NA 9q22.33 NA NA NA NA rs114369670 0.0037 0.0037 0.003 0.00838658 NA NA 0.0043 0.0295 NA NA NA 0.0028 0.01 0.0023 0.026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391664 NA NA 0 0.026235 NA NA NA 3.9977 1252 8 69046263 69046263 G A intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA rs111524733 0.0041 0.0041 0.005 0.00738818 NA NA 0.0043 0.0257 NA NA NA 0.01 0.01 0.0022 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.33169 1.33169 NA 0.000116 0.020881 NA 0.007 NA 3.997684 1252 2 73898118 73898118 C T ncRNA_intronic ALMS1P NA NA NA ncRNA_intronic ENSG00000163016 NA NA NA NA NA 2p13.1 NA NA NA NA rs7570683 0.55 0.55 0.489 0.546126 0.669 0.6925 0.6729 0.1573 0.7045 0.66 0.67 0.68 0.16 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.742927 1.742927 NA NA NA NA 0.486 NA 3.9976666 1252 6 44149113 44149113 A G intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA Name=19 NA rs67257607 0.32 0.32 0.294 0.273762 0.5278 0.1458 0.3084 0.1717 0.2577 0.54 0.17 0.35 0.14 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250283 NA NA 0.474544 0.211705 NA 0.297 NA 3.997656 1252 12 56733682 56733682 T C intronic IL23A NA NA NA intronic ENSG00000110944 NA NA NA NA NA 12q13.3 NA NA NA NA rs201125188 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0006 0.0008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.168482 NA NA 0.000814 0 NA NA NA 3.997586 1252 14 99932032 99932032 G C intronic SETD3 NA NA NA intronic ENSG00000183576 NA NA NA NA NA 14q32.2 NA NA NA NA rs201325466 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0005 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78954 NA NA 0.00093 0.000454 NA NA NA 3.99757 1252 10 72100277 72100277 T C intronic LRRC20 NA NA NA intronic ENSG00000172731 NA NA NA NA NA 10q22.1 NA NA NA NA rs201562678 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159907 NA NA 0.001744 0 NA NA NA 3.997556 1252 1 55549088 55549088 T C intronic USP24 NA NA NA intronic ENSG00000162402 NA NA NA NA NA 1p32.3 NA NA NA NA rs17111591 0.04 0.04 0.038 0.0459265 0.002 NA 0.0144 0.1649 NA 0.0013 NA 0.02 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739783 NA NA 0.000482 0.133803 NA 0.043 NA 3.997518 1252 10 72645014 72645014 G C intronic PCBD1 NA NA NA intronic ENSG00000166228 NA NA NA NA NA 10q22.1 NA NA NA NA rs367896751 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001 0.0015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435552 NA NA 0.001512 0 NA NA NA 3.997488 1252 2 111398587 111398587 A C intronic BUB1 NA NA NA intronic ENSG00000169679 NA NA NA NA NA 2q13 NA NA NA NA rs147902916 0.0018 0.0018 0.003 0.00139776 0.001 NA 0.0043 0.0023 NA NA NA 0.0028 0.01 0.0009 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.02746 4.02746 NA 0.000698 0.000454 NA NA NA 3.997402 1252 1 16528224 16528224 A G intronic ARHGEF19 NA NA NA intronic ENSG00000142632 NA NA NA NA NA 1p36.13 NA NA NA NA rs377273211 NA NA NA 0.000599042 0.002 NA NA 0.0008 NA NA NA NA NA NA 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177702 NA NA 0.000629 0.001445 NA NA NA 3.997371 1252 19 40228522 40228522 C T intronic CLC NA NA NA intronic ENSG00000105205 NA NA NA NA NA 19q13.2 NA NA NA NA rs28439433 0.05 0.05 0.06 0.0601038 0.002 NA 0.0274 0.2118 NA 0.0013 NA 0.04 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755189 NA NA 0.000629 0.190029 NA 0.014 NA 3.997371 1252 1 89579681 89579681 G A intronic GBP2 NA NA NA intronic ENSG00000162645 NA NA NA NA NA 1p22.2 NA NA NA NA rs191403927 0.0023 0.0023 NA 0.00139776 0.002 NA 0.0029 0.0023 NA 0.0026 NA 0.01 0.002 0.0003 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.528836 NA NA 0.000349 0.000908 NA NA NA 3.997351 1252 1 112192044 112192044 C T intronic RAP1A NA NA NA ncRNA_exonic ENSG00000215867 NA NA NA NA NA 1p13.2 NA NA NA NA rs2076585 0.33 0.33 0.324 0.322484 0.336 0.4375 0.3271 0.1649 0.3998 0.32 0.44 0.37 0.16 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928721 NA NA NA NA NA 0.297 NA 3.9973333 1252 11 9052170 9052170 G A intronic SCUBE2 NA NA NA ncRNA_intronic ENSG00000253973 NA NA NA NA NA 11p15.4 NA NA NA NA rs10769983 0.18 0.18 0.158 0.154353 0.336 0.0744 0.2911 0.0129 0.1442 0.33 0.09 0.22 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495491 NA NA NA NA NA 0.275 NA 3.9973333 1252 19 51920240 51920240 G T intronic LOC100129083,SIGLEC10 NA NA NA ncRNA_intronic ENSG00000255441 NA NA NA NA NA 19q13.41 NA NA NA NA rs112587079 0.08 0.08 0.078 0.0958466 0.1203 0.0437 0.0764 0.1014 0.1309 0.11 0.03 0.08 0.08 0.1048 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.511336 2.511336 NA 0.11093 0.100318 NA 0.065 NA 3.9973033 1252 4 110670340 110670340 G A intronic CFI NA NA NA intronic ENSG00000205403 NA NA NA NA NA 4q25 NA NA NA NA rs139522303 0.0005 0.0005 0.001 0.000599042 0.001 NA NA NA 0.002 0.0013 NA NA NA 0.0009 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.301697 3.301697 NA 0.000814 0.000454 NA NA NA 3.997286 1252 2 111556710 111556710 C G intronic ACOXL NA NA NA intronic ENSG00000153093 NA NA NA NA NA 2q13 NA NA NA NA rs144853600 0.0023 0.0023 0.002 0.00159744 0.001 NA 0.0043 0.003 NA NA NA 0.0028 0.01 0.0011 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169979 NA NA 0.000698 0.000454 NA NA NA 3.997202 1252 12 57958364 57958364 A G intronic KIF5A NA NA NA intronic ENSG00000155980 NA NA NA NA NA 12q13.3 NA NA NA NA rs75527218 0.01 0.01 0.015 0.0233626 NA NA 0.0101 0.0825 0.001 NA NA 0.01 0.05 NA 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.951105 NA NA 0.002828 0.091763 NA 0.036 NA 3.997172 1252 3 193365793 193365793 C A intronic OPA1 NA NA NA intronic ENSG00000198836 NA NA NA NA NA 3q29 NA NA NA NA rs73888660 0.01 0.01 0.006 0.00978435 0.001 NA 0.0058 0.0333 NA 0.0013 NA 0.01 0.02 NA 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411808 NA NA 0.001886 0.024566 NA NA NA 3.997114 1252 6 29912451 29912451 C A intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs9260193 0.51 0.51 0.367 0.530351 0.5179 0.4871 0.5965 0.5968 0.4509 0.49 0.45 0.52 0.61 0.485 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233551 NA NA NA NA NA 0.138 NA 3.9971 1252 12 48597079 48597079 G A upstream OR10AD1 NA NA NA UTR5 ENSG00000172640 ENST00000310248:c.-4C>T NA NA NA NA 12q13.11 NA NA NA NA rs200357379 0.0005 0.0005 NA 0.000599042 0.001 NA 0.0029 NA NA 0.0013 NA NA NA 0.001 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.142858 NA NA 0.000931 0.000454 NA NA NA 3.997069 1252 1 120050300 120050300 G T intronic HSD3B1 NA NA NA intronic ENSG00000203857 NA NA NA NA NA 1p12 NA NA NA NA rs6671149 0.06 0.06 0.043 0.0672923 0.003 0.0546 0.0461 0.1505 0.0491 NA 0.04 0.04 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803102 NA NA NA NA NA 0.043 NA 3.997 1252 1 120053996 120053996 A G intronic HSD3B1 NA NA NA intronic ENSG00000203857 NA NA NA NA NA 1p12 NA NA NA NA rs2273582 0.06 0.06 0.056 0.0672923 0.003 0.0546 0.0461 0.1505 0.0491 NA 0.04 0.04 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672598 NA NA NA NA NA 0.043 NA 3.997 1252 1 120144172 120144172 G T intergenic LINC00622,ZNF697 dist=2258;dist=17828 NA NA ncRNA_intronic ENSG00000198857 NA NA NA NA NA 1p12 NA NA NA NA rs76710296 0.02 0.02 0.018 0.0179712 0.003 NA 0.0043 0.0635 NA NA NA NA 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426932 NA NA NA NA NA 0.014 NA 3.997 1252 3 100014947 100014947 C T intronic TBC1D23 NA NA NA intronic ENSG00000036054 NA NA NA NA NA 3q12.2 NA NA NA NA rs186180204 0.0014 0.0014 NA 0.00119808 0.003 NA 0.0029 NA 0.001 0.0026 NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146711 NA NA NA NA NA NA NA 3.997 1252 6 10697440 10697440 T C intronic PAK1IP1 NA NA NA intronic ENSG00000111845 NA NA NA NA NA 6p24.2 NA NA NA NA rs12661484 0.07 0.07 0.085 0.0976438 0.003 0.0387 0.013 0.3147 0.0225 0.0013 0.03 0.01 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154928 NA NA NA NA NA 0.101 NA 3.997 1252 6 10697781 10697781 T C intronic PAK1IP1 NA NA NA intronic ENSG00000111845 NA NA NA NA NA 6p24.2 NA NA NA NA rs76347296 0.07 0.07 0.085 0.0976438 0.003 0.0387 0.013 0.3147 0.0225 0.0013 0.03 0.01 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061256 NA NA NA NA NA 0.109 NA 3.997 1252 6 109610895 109610895 T C intergenic LOC100996634,CCDC162P dist=19178;dist=4611 NA NA ncRNA_intronic ENSG00000219700 NA NA NA NA NA 6q21 NA NA NA NA rs141627638 0.0009 0.0009 0.002 0.000998403 0.003 NA NA NA 0.002 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556037 NA NA NA NA NA NA NA 3.997 1252 7 22165364 22165364 C G intronic RAPGEF5 NA NA NA intronic ENSG00000136237 NA NA NA NA NA 7p15.3 NA NA NA NA rs143813660 0.0009 0.0009 0.001 0.000599042 0.003 NA NA NA NA 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511564 NA NA NA NA NA NA NA 3.997 1252 9 140638045 140638045 C T intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs116060838 0.04 0.04 0.042 0.0469249 0.003 NA 0.0187 0.1657 NA NA NA 0.02 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.192943 2.192943 NA NA NA NA 0.051 NA 3.997 1252 10 61083971 61083971 A T intronic FAM13C NA NA NA intronic ENSG00000148541 NA NA NA NA NA 10q21.1 NA NA NA NA rs184228693 0.0018 0.0018 NA 0.00119808 0.003 NA 0.0043 NA NA 0.0013 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916457 NA NA NA NA NA NA NA 3.997 1252 12 130855628 130855628 C G intronic PIWIL1 NA NA NA intronic ENSG00000125207 NA NA NA NA NA 12q24.33 NA NA NA NA rs181209074 0.0014 0.0014 NA 0.000998403 0.003 NA 0.0029 NA NA 0.0013 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910101 NA NA NA NA NA NA NA 3.997 1252 16 1995763 1995763 G A intronic RPL3L NA NA NA intronic ENSG00000140986 NA NA NA NA NA 16p13.3 NA NA NA NA rs143778334 0.0005 0.0005 0.001 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809245 NA NA NA NA NA 0.007 NA 3.997 1252 17 7535422 7535422 G C intronic SHBG NA NA NA intronic ENSG00000129214 NA NA NA NA NA 17p13.1 NA NA NA NA rs143434056 0.01 0.01 0 0.0109824 0.003 NA 0.0749 NA NA 0.01 NA 0.04 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166929 NA NA NA NA NA 0.007 NA 3.997 1252 17 10541817 10541817 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs112279473 0.01 0.01 NA 0.00678914 0.003 NA 0.0072 0.0144 0.0072 0.004 NA 0.01 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14351 NA NA NA NA NA 0.007 NA 3.997 1252 17 73235728 73235728 C T intronic GGA3 NA NA NA intronic ENSG00000125447 NA NA NA NA NA 17q25.1 NA NA NA NA rs9902741 0.14 0.14 0.146 0.16893 0.003 0.1002 0.0879 0.4486 0.09 0.004 0.06 0.09 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608857 NA NA NA NA NA 0.196 NA 3.997 1252 19 7809178 7809178 T C intronic CD209 NA NA NA intronic ENSG00000090659 NA NA NA NA NA 19p13.2 NA NA NA NA rs61058460 0.03 0.03 0.035 0.0359425 0.003 NA 0.0101 0.1286 NA NA NA 0.01 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294943 NA NA NA NA NA 0.058 NA 3.997 1252 19 14568772 14568772 G A intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA NA NA NA rs56163142 0.0018 0.0018 0.002 0.000998403 0.003 NA 0.0029 NA NA 0.0026 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688916 NA NA NA NA NA NA NA 3.997 1252 13 33739459 33739459 C T intronic STARD13 NA NA NA intronic ENSG00000133121 NA NA NA NA NA 13q13.1 NA NA NA NA rs79458853 0.01 0.01 0.012 0.0119808 NA 0.002 NA 0.0439 NA NA NA NA 0.04 0.0029 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063847 NA NA 0.000116 0.034044 NA 0.014 NA 3.996984 1252 16 27445795 27445795 C G intronic IL21R NA NA NA intronic ENSG00000103522 NA NA NA NA NA 16p12.1 NA NA NA NA rs200904384 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0013 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292238 NA NA 0.00186 0.000683 NA 0.007 NA 3.99684 1252 1 89755671 89755671 T A ncRNA_exonic LOC729930 NA NA NA ncRNA_exonic ENSG00000238081 NA NA NA NA NA 1p22.2 NA NA NA NA rs623771 0.66 0.66 0.632 0.638978 0.67 0.4881 0.7406 0.8192 0.4468 0.66 0.49 0.72 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338573 NA NA NA NA NA 0.681 NA 3.9966666 1252 10 11893971 11893971 T G ncRNA_intronic PROSER2-AS1 NA NA NA ncRNA_intronic ENSG00000225778 NA NA NA NA NA 10p14 NA NA NA NA rs7079747 0.69 0.69 0.692 0.653554 0.67 0.8333 0.6254 0.5673 0.5879 0.66 0.82 0.65 0.59 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.629851 NA NA NA NA NA 0.645 NA 3.9966666 1252 19 43520205 43520205 G A intronic PSG11 NA NA NA intronic ENSG00000243130 NA NA NA NA NA 19q13.31 NA NA NA NA rs200592598 NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA 0.0004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42577 NA NA NA NA NA NA NA 3.9966 1252 11 62402523 62402523 G C intronic GANAB NA NA NA intronic ENSG00000089597 NA NA NA NA NA 11q12.3 NA NA NA NA rs372157422 NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA 0.0002 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23718 NA NA 0.000233 0 NA NA NA 3.996567 1252 17 7011093 7011093 C T intronic ASGR2 NA NA NA intronic ENSG00000161944 NA NA NA NA NA 17p13.1 NA NA NA NA rs2455554 NA NA 0.213 NA NA NA NA NA NA NA NA NA NA 0.0036 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617124 NA NA NA NA NA 0.036 NA 3.9964 1252 8 75274253 75274253 G A intronic GDAP1 NA NA NA intronic ENSG00000104381 NA NA NA NA NA 8q21.11 NA NA NA NA rs75294039 0.01 0.01 0.009 0.0103834 0.001 NA 0.0058 0.0356 NA 0.0013 NA 0.01 0.02 0.0028 0.028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085515 NA NA 0 0.027463 NA 0.007 NA 3.9962 1252 15 80873420 80873420 C T intronic ARNT2 NA NA NA intronic ENSG00000172379 NA NA NA NA NA 15q25.1 NA NA NA NA rs138620470 0.0014 0.0014 0.001 0.000998403 0.001 NA 0.0014 0.0023 NA NA NA 0.0028 0.0041 0.0028 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727884 NA NA NA NA NA NA NA 3.9962 1252 9 101798509 101798509 G C intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA NA NA rs199692982 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0012 0.0027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605977 NA NA 0.002674 0.000454 NA NA NA 3.996126 1252 13 37016284 37016284 A T intronic CCNA1 NA NA NA intronic ENSG00000133101 NA NA NA NA NA 13q13.3 NA NA NA NA rs79227961 0.0027 0.0027 0.004 0.00339457 0.002 NA 0.0043 0.0091 NA 0.0013 NA NA 0.01 0.0013 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387514 NA NA 0.000581 0.001362 NA 0.007 NA 3.996119 1252 18 60015542 60015542 T C intronic TNFRSF11A NA NA NA intronic ENSG00000141655 NA NA NA NA NA 18q21.33 NA NA NA NA rs3826618 0.13 0.13 0.117 0.140575 0.002 0.2907 0.1124 0.2042 0.0624 0.0013 0.25 0.11 0.21 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146185 NA NA 0.001886 0.151734 NA 0.072 NA 3.996114 1252 13 24871899 24871899 A G intronic SPATA13 NA NA NA intronic ENSG00000182957 NA NA NA NA NA 13q12.12 NA NA NA NA rs201345366 0.0018 0.0018 NA 0.000998403 0.002 NA 0.0043 NA NA 0.0026 NA 0.01 NA 0.0012 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.770676 NA NA 0.000698 0.000454 NA NA NA 3.996102 1252 10 105791929 105791929 C G UTR3 COL17A1 NM_000494:c.*64G>C NA NA UTR3 ENSG00000065618 ENST00000369733:c.*64G>C,ENST00000353479:c.*64G>C NA NA NA NA 10q24.33 NA NA NA NA rs805687 0.21 0.21 0.222 0.228834 0.167 0.1012 0.2248 0.4221 0.1656 0.18 0.09 0.21 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183391 NA NA 0.170333 0.373555 NA 0.188 NA 3.9960004 1252 1 160783794 160783794 G T intronic LY9 NA NA NA intronic ENSG00000122224 NA NA NA NA NA 1q23.3 NA NA NA NA rs12738298 0.05 0.05 0.05 0.0511182 0.004 0.0437 0.0086 0.1127 0.0542 0.004 0.07 0.01 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582043 NA NA NA NA NA 0.08 NA 3.996 1252 2 130912575 130912575 G T intronic SMPD4 NA NA NA intronic ENSG00000136699 NA NA NA NA NA 2q21.1 NA NA NA NA rs112475012 0.02 0.02 0.018 0.0175719 0.004 NA 0.013 0.0567 NA 0.004 NA 0.01 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.974577 NA NA NA NA NA 0.014 NA 3.996 1252 2 130988700 130988700 C T intergenic TUBA3E,CCDC115 dist=32666;dist=107116 NA NA ncRNA_exonic ENSG00000213225 NA NA NA NA NA 2q21.1 NA NA NA NA rs150105236 0.02 0.02 0.018 0.0307508 0.004 NA 0.0144 0.1059 NA 0.004 NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692548 NA NA NA NA NA 0.022 NA 3.996 1252 2 160873007 160873007 G C intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs189059429 0.0027 0.0027 NA 0.00319489 0.004 NA 0.0043 0.0008 0.0082 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530043 NA NA NA NA NA NA NA 3.996 1252 6 10749608 10749608 C G intronic TMEM14B NA NA NA intronic ENSG00000137210,ENSG00000153157,ENSG00000272162 NA NA NA NA NA 6p24.2 NA NA NA NA rs115200994 0.02 0.02 0.017 0.0207668 0.004 NA 0.0115 0.0681 0.002 NA NA 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071033 NA NA NA NA NA 0.029 NA 3.996 1252 7 23794175 23794175 A G intronic STK31 NA NA NA intronic ENSG00000196335 NA NA NA NA NA 7p15.3 NA NA NA NA rs189203911 0.0023 0.0023 NA 0.00199681 0.004 NA 0.0029 NA 0.0041 0.0026 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585031 NA NA NA NA NA NA NA 3.996 1252 9 140712324 140712324 T C intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs10283789 0.14 0.14 0.158 0.171925 0.004 0.005 0.049 0.6188 NA NA 0.0017 0.04 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064055 NA NA NA NA NA 0.159 NA 3.996 1252 9 140712387 140712387 A G intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs10283760 0.14 0.14 0.164 0.177316 0.004 0.005 0.049 0.6392 NA NA 0.0017 0.04 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713265 NA NA NA NA NA 0.167 NA 3.996 1252 11 118428668 118428668 G A intronic IFT46 NA NA NA intronic ENSG00000118096 NA NA NA NA NA 11q23.3 NA NA NA NA rs112890356 0.02 0.02 0.023 0.0301518 0.004 0.0119 0.0115 0.087 0.0123 0.01 0.01 0.02 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.127555 NA NA NA NA NA 0.014 NA 3.996 1252 15 41384092 41384092 C T intronic INO80 NA NA NA intronic ENSG00000128908 NA NA NA NA NA 15q15.1 NA NA NA NA rs112188222 0.04 0.04 0.044 0.0533147 0.004 NA 0.0173 0.1717 0.0245 0.004 NA 0.02 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918867 NA NA NA NA NA 0.109 NA 3.996 1252 15 67571907 67571907 G A intronic IQCH NA NA NA intronic ENSG00000103599 NA NA NA NA NA 15q23 NA NA NA NA rs184732915 0.0014 0.0014 NA 0.000998403 0.004 NA NA NA 0.001 0.004 NA NA NA NA 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738986 NA NA NA NA NA NA NA 3.996 1252 15 81615845 81615845 T C intronic STARD5 NA NA NA intronic ENSG00000172345 NA NA NA NA NA 15q25.1 NA NA NA NA rs139226471 0.03 0.03 0.027 0.0373403 0.004 NA 0.0101 0.1331 NA 0.004 NA 0.0028 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393046 NA NA NA NA NA NA NA 3.996 1252 16 24104322 24104322 A C intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 NA NA NA NA rs3729898 0.05 0.05 0.057 0.0644968 0.004 NA 0.0245 0.2284 NA 0.01 NA 0.02 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1161 NA NA NA NA NA 0.058 NA 3.996 1252 17 61561024 61561024 C T intronic ACE NA NA NA intronic ENSG00000159640 NA NA NA NA NA 17q23.3 NA NA NA NA rs182675474 0.0018 0.0018 NA 0.000798722 0.004 NA NA NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.681696 2.681696 NA NA NA NA NA NA 3.996 1252 8 48962552 48962552 G A intronic UBE2V2 NA NA NA intronic ENSG00000169139 NA NA NA NA NA 8q11.21 NA NA NA NA rs118090687 0.0005 0.0005 0.002 0.000798722 0.001 NA NA 0.0023 NA NA NA NA 0.002 0.0013 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715751 NA NA 0.001719 0.000275 NA 0.007 NA 3.995981 1252 12 121707321 121707321 G A intronic CAMKK2 NA NA NA intronic ENSG00000110931 NA NA NA NA NA 12q24.31 NA NA Name=8 NA rs1109453 0.27 0.27 0.293 0.283946 0.33 0.0159 0.2219 0.472 0.3027 0.34 0.02 0.23 0.5 0.3427 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.143369 2.143369 NA 0.331589 0.425556 NA 0.261 NA 3.995711 1252 19 10099964 10099964 G A intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs116064043 0.01 0.01 0.014 0.0171725 NA NA 0.0043 0.0628 NA NA NA NA 0.05 0.0042 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707639 NA NA 0.000116 0.041534 NA 0.014 NA 3.995684 1252 1 11854395 11854395 C T intronic MTHFR NA NA NA intronic ENSG00000177000 NA NA NA NA NA 1p36.22 NA NA NA NA rs201780607 0 0 NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.001 0.0023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.461794 1.461794 NA 0.002326 0.000681 NA NA NA 3.995674 1252 9 116795059 116795059 C T intronic ZNF618 NA NA NA intronic ENSG00000157657 NA NA NA NA NA 9q32 NA NA NA NA rs73658318 0.05 0.05 0.05 0.052516 NA NA 0.0317 0.1808 0.002 NA NA 0.03 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740361 NA NA 0.004589 0.151253 NA 0.051 NA 3.995411 1252 2 26802392 26802392 A T UTR3 C2orf70 NM_001105519:c.*86A>T NA NA UTR3 ENSG00000173557 ENST00000329615:c.*86A>T,ENST00000409392:c.*99A>T,ENST00000453368:c.*86A>T NA NA NA NA 2p23.3 NA NA NA NA rs2272467 0.36 0.36 0.337 0.361821 0.338 0.627 0.2334 0.1899 0.4366 0.34 0.6 0.22 0.22 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.930122 NA NA NA NA NA 0.326 NA 3.9953334 1252 1 54477961 54477961 G T intronic LDLRAD1 NA NA NA intronic ENSG00000203985 NA NA NA NA NA 1p32.3 NA NA NA NA rs115400537 0.01 0.01 0.013 0.0129792 NA NA 0.0014 0.0484 NA NA NA 0.0028 0.05 0.0045 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02538 NA NA 0.000233 0.048797 NA 0.014 NA 3.995267 1252 19 5613552 5613552 T C intronic SAFB2 NA NA NA intronic ENSG00000130254 NA NA NA NA NA 19p13.3 NA NA NA NA rs201943640 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0011 0.0027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.579655 2.579655 NA 0.002674 0.000227 NA NA NA 3.995226 1252 6 29912457 29912457 C G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs9260194 0.49 0.49 0.325 0.53115 0.5199 0.4871 0.5965 0.5991 0.4499 0.46 0.44 0.51 0.6 0.4849 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062185 NA NA NA NA NA 0.138 NA 3.9952 1252 6 37250112 37250112 A G exonic TBC1D22B NA synonymous SNV TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q exonic ENSG00000065491 NA synonymous SNV ENSG00000065491:ENST00000373491:exon4:c.A573G:p.Q191Q Score=547;Name=lod=223 NA 6p21.2 NA NA NA NA rs195753 0.92 0.92 0.941 0.924521 0.8857 0.9018 0.9121 0.9917 0.9059 0.89 0.92 0.9 0.98 0.9073 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076712 NA NA 0.878488 0.97163 NA 0.942 NA 3.9951786 1252 4 170990258 170990258 T G intronic AADAT NA NA NA intronic ENSG00000109576 NA NA NA NA NA 4q33 NA NA NA NA rs144212903 0.0005 0.0005 0.001 0.00119808 0.001 NA NA NA 0.0051 0.0013 NA NA NA 0.0021 0.0019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34531 NA NA 0.00186 0.000227 NA NA NA 3.99504 1252 1 20469816 20469816 C T intronic PLA2G2F NA NA NA intronic ENSG00000158786 NA NA NA NA NA 1p36.12 NA NA NA NA rs12746110 0.0023 0.0023 0.001 0.00199681 0.005 NA 0.0029 NA 0.0031 0.004 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003328 NA NA NA NA NA NA NA 3.995 1252 2 32855522 32855522 T C intronic TTC27 NA NA NA intronic ENSG00000018699 NA NA NA NA NA 2p22.3 NA NA NA NA rs138590010 0.0032 0.0032 0.003 0.00259585 0.005 NA 0.0058 0.0015 0.002 0.004 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647059 NA NA NA NA NA NA NA 3.995 1252 2 88825014 88825014 C T intronic TEX37 NA NA NA intronic ENSG00000172073 NA NA NA NA NA 2p11.2 NA NA NA NA rs34724508 0.0018 0.0018 0 0.00139776 0.005 NA 0.0014 0.0008 NA 0.004 NA 0.0028 NA NA 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358393 NA NA NA NA NA NA NA 3.995 1252 3 3143296 3143296 G A intronic IL5RA NA NA NA intronic ENSG00000091181 NA NA NA NA NA 3p26.2 NA NA NA NA rs35418165 0.0023 0.0023 NA 0.00159744 0.005 NA 0.0043 NA NA 0.004 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440456 NA NA NA NA NA NA NA 3.995 1252 3 149182144 149182144 C A intergenic TM4SF1,TM4SF4 dist=86576;dist=10224 NA NA ncRNA_exonic ENSG00000241929 NA NA NA NA NA 3q25.1 NA NA NA NA rs144946430 0.0041 0.0041 0.001 0.00279553 0.005 NA 0.0101 NA 0.002 0.01 NA 0.01 NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.106056 NA NA NA NA NA 0.014 NA 3.995 1252 6 152415403 152415403 T C intronic ESR1 NA NA NA intronic ENSG00000091831 NA NA NA NA NA 6q25.1 NA NA NA NA rs189426279 0.0014 0.0014 NA 0.00159744 0.005 NA 0.0043 NA NA 0.0026 NA 0.0028 NA NA 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90817 NA NA NA NA NA NA NA 3.995 1252 7 107214059 107214059 A G intronic DUS4L NA NA NA intronic ENSG00000105865 NA NA NA NA NA 7q22.3 NA NA NA NA rs140196860 0.0027 0.0027 0.002 0.00239617 0.005 0.001 0.0029 NA 0.0041 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344085 NA NA NA NA NA NA NA 3.995 1252 9 33386887 33386887 A G intronic AQP7 NA NA NA intronic ENSG00000165269 NA NA NA NA NA 9p13.3 NA NA NA NA rs4008677 NA NA 0.229 0.00219649 0.005 0.003 NA NA 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.634791 NA NA NA NA NA NA NA 3.995 1252 9 116038752 116038752 G A intronic PRPF4 NA NA NA intronic ENSG00000136875 NA NA NA NA NA 9q32 NA NA NA NA rs148470635 0.0027 0.0027 0.003 0.00259585 0.005 NA 0.0029 0.0008 0.0051 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30131 NA NA NA NA NA NA NA 3.995 1252 11 72013076 72013076 A C intronic CLPB NA NA NA intronic ENSG00000162129 NA NA NA NA NA 11q13.4 NA NA NA NA rs117838928 0.0018 0.0018 0.001 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442722 NA NA NA NA NA NA NA 3.995 1252 11 118951724 118951724 A G intronic VPS11 NA NA NA intronic ENSG00000160695 NA NA NA NA NA 11q23.3 NA NA NA NA rs7122226 0.05 0.05 0.06 0.0441294 0.005 NA 0.0259 0.1498 NA 0.01 NA 0.02 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144305 NA NA NA NA NA 0.072 NA 3.995 1252 15 78269618 78269618 C T intergenic LOC645752,LOC91450 dist=50430;dist=15957 NA NA ncRNA_intronic ENSG00000261143 NA NA NA NA NA 15q24.3 NA NA NA NA rs149013369 0.01 0.01 0.013 0.0163738 0.005 NA 0.0058 0.0499 0.0072 0.0026 NA 0.01 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548417 NA NA NA NA NA 0.014 NA 3.995 1252 16 21387937 21387937 G A ncRNA_intronic SNX29P1 NA NA NA intergenic ENSG00000257403,ENSG00000158482 dist=24478;dist=3376 NA NA NA NA 16p12.2 NA NA NA NA rs144947407 0.01 0.01 0.003 0.0133786 0.005 0.0179 0.0115 0.0008 0.0358 0.0013 0.02 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580888 NA NA NA NA NA NA NA 3.995 1252 19 8005858 8005858 G A intronic TIMM44 NA NA NA intronic ENSG00000104980 NA NA NA NA NA 19p13.2 NA NA NA NA rs77436248 0.07 0.07 0.064 0.0591054 0.005 0.2192 0.0865 0.0015 0.0082 0.01 0.22 0.07 0.0041 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490787 NA NA NA NA NA 0.022 NA 3.995 1252 20 31765890 31765890 T C intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA NA NA NA rs8125148 0.03 0.03 0.03 0.0279553 0.005 NA 0.0058 0.0991 NA 0.01 NA 0.01 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152297 NA NA NA NA NA 0.029 NA 3.995 1253 3 123022092 123022092 G A intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs181457782 0.0018 0.0018 NA 0.000599042 0.003 NA NA NA NA 0.01 NA NA NA 0.0009 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38009 NA NA 0.001396 0 NA NA NA 3.994704 1253 12 57883632 57883632 C T intronic MARS NA NA NA intronic ENSG00000166986 NA NA NA NA NA 12q13.3 NA NA NA NA rs77551014 0.0018 0.0018 0.002 0.00259585 NA NA 0.0014 0.0083 0.001 NA NA NA 0.01 0.0024 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.868182 1.868182 NA 0.003023 0.010213 NA 0.014 NA 3.994577 1253 21 41415996 41415996 A T intronic DSCAM NA NA NA intronic ENSG00000171587 NA NA NA NA NA 21q22.2 NA NA NA NA rs200011504 0.0027 0.0027 NA 0.00379393 0.003 NA 0.0014 0.0098 0.002 0.0013 NA NA 0.01 0.0015 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.297156 NA NA 0.000932 0.004786 NA NA NA 3.994568 1253 1 161180061 161180061 G A intronic NDUFS2 NA NA NA intronic ENSG00000158864 NA NA NA NA NA 1q23.3 NA NA NA NA rs115682162 0.01 0.01 0.004 0.0123802 0.001 NA 0.0086 0.0416 NA NA NA 0.01 0.02 0.0045 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477198 NA NA 0 0.04857 NA NA NA 3.9945 1253 6 10749582 10749582 A G intronic TMEM14B NA NA NA intronic ENSG00000137210,ENSG00000153157,ENSG00000272162 NA NA NA NA NA 6p24.2 NA NA NA NA rs116269210 0.02 0.02 0.016 0.0207668 0.004 NA 0.0115 0.0681 0.002 NA NA 0.01 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403774 NA NA 0.001571 0.049855 NA 0.029 NA 3.994429 1253 X 2832771 2832771 C T intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs78142040 0.0012 0.0012 NA NA NA NA NA NA NA NA NA NA 0.01 0.0056 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868268 NA NA NA NA NA NA NA 3.9944 1253 12 12979025 12979025 G A intronic DDX47 NA NA NA intronic ENSG00000213782,ENSG00000255661 NA NA NA NA NA 12p13.1 NA NA NA NA rs199576460 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0014 0.0022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378356 NA NA 0.002209 0.000454 NA NA NA 3.994391 1253 15 52531941 52531941 A G exonic MYO5C NA synonymous SNV MYO5C:NM_018728:exon21:c.T2692C:p.L898L exonic ENSG00000128833 NA synonymous SNV ENSG00000128833:ENST00000261839:exon21:c.T2692C:p.L898L Score=638;Name=lod=522 NA 15q21.2 NA NA NA NA rs11635028 0.65 0.65 0.633 0.592851 0.9354 0.3085 0.7205 0.5 0.5685 0.94 0.31 0.78 0.49 0.7978 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146738 NA NA 0.939113 0.556526 NA 0.667 NA 3.9943536 1253 7 1550455 1550455 C T intergenic INTS1,MAFK dist=6437;dist=19913 NA NA intergenic ENSG00000231927,ENSG00000198517 dist=1392;dist=19895 NA NA NA NA 7p22.3 NA Name=TCF12 NA NA rs11981930 0.31 0.31 0.297 0.376398 0.339 0.2679 0.4669 0.3759 0.4632 0.28 0.25 0.41 0.35 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799638 NA NA NA NA NA 0.246 NA 3.9943334 1253 2 54872343 54872343 T G intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA NA NA NA rs77711744 0.01 0.01 0.004 0.00878594 0.002 NA 0.0058 0.0287 NA NA NA 0.0028 0.02 0.0034 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488398 NA NA 0.000349 0.029959 NA 0.007 NA 3.994251 1253 1 220978682 220978682 C G intronic MARC1 NA NA NA intronic ENSG00000186205 NA NA NA NA NA 1q41 NA NA NA NA rs72472336 0.02 0.02 0.016 0.0241613 0.003 0.0496 0.0043 NA 0.0665 0.0026 0.07 0.0028 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.974757 1.974757 NA 0.002828 0.000723 NA NA NA 3.994172 1253 11 103107117 103107117 C T intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs78586860 0.01 0.01 0.013 0.013778 0.002 NA 0.0058 0.0477 NA NA NA 0.01 0.04 0.0037 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662918 NA NA 0.000245 0.040362 NA 0.007 NA 3.994055 1253 20 31830260 31830260 G C intronic BPIFA1 NA NA NA intronic ENSG00000198183 NA NA NA NA NA 20q11.21 NA NA NA NA rs185041484 0.0027 0.0027 NA 0.00119808 0.004 NA 0.0029 NA NA 0.01 NA 0.01 NA 0.0008 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304259 NA NA 0.001163 0 NA NA NA 3.994037 1253 19 9346167 9346167 T C intergenic OR7D4,OR7E24 dist=20620;dist=15553 NA NA ncRNA_exonic ENSG00000188314 NA NA NA NA NA 19p13.2 NA NA NA NA rs3926918 0.01 0.01 0.005 0.0279553 NA NA 0.0058 0.1029 NA NA NA 0.01 0.06 0.006 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.406066 NA NA NA NA NA 0.029 NA 3.994 1253 1 25153429 25153429 A C intronic CLIC4 NA NA NA intronic ENSG00000169504 NA NA NA NA NA 1p36.11 NA NA NA NA rs41292295 0.0041 0.0041 0 0.00539137 0.006 NA 0.0058 0.0008 0.0164 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77966 NA NA NA NA NA NA NA 3.994 1253 1 156145106 156145106 C G intronic SEMA4A NA NA NA intronic ENSG00000196189 NA NA NA NA NA 1q22 NA NA NA NA rs142383013 0.0014 0.0014 0.002 0.00159744 0.006 NA 0.0014 NA 0.001 0.004 NA NA NA NA 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.329948 2.329948 NA NA NA NA NA NA 3.994 1253 1 158300976 158300976 A T intronic CD1B NA NA NA intronic ENSG00000158485 NA NA NA NA NA 1q23.1 NA NA NA NA rs148424559 0.0046 0.0046 0.005 0.00339457 0.006 NA 0.0058 0.0023 0.0041 0.01 NA 0.01 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.41356 1.41356 NA NA NA NA NA NA 3.994 1253 4 99325549 99325549 A G intronic RAP1GDS1 NA NA NA intronic ENSG00000138698 NA NA NA NA NA 4q23 NA NA NA NA rs41275691 0.05 0.05 0.052 0.0646965 0.006 NA 0.0274 0.2133 0.0174 0.01 NA 0.03 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603874 NA NA NA NA NA 0.043 NA 3.994 1253 4 99325877 99325877 G A intronic RAP1GDS1 NA NA NA intronic ENSG00000138698 NA NA NA NA NA 4q23 NA NA NA NA rs10003061 0.04 0.04 0.039 0.0495208 0.006 NA 0.0245 0.1573 0.0174 0.01 NA 0.03 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845086 NA NA NA NA NA 0.029 NA 3.994 1253 4 99357999 99357999 G T intronic RAP1GDS1 NA NA NA intronic ENSG00000138698 NA NA NA NA NA 4q23 NA NA NA NA rs6831386 0.04 0.04 0.043 0.0519169 0.006 NA 0.0245 0.1664 0.0174 0.01 NA 0.03 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660921 NA NA NA NA NA 0.043 NA 3.994 1253 7 117243974 117243974 C T intronic CFTR NA NA NA intronic ENSG00000001626 NA NA NA NA NA 7q31.2 NA NA NA NA rs149621568 0.0027 0.0027 0.004 0.00179712 0.006 NA 0.0029 NA 0.001 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.7619 NA NA NA NA NA NA NA 3.994 1253 9 15564237 15564237 G A intronic CCDC171 NA NA NA intronic ENSG00000164989 NA NA NA NA NA 9p22.3 NA NA NA NA rs187217145 0.0037 0.0037 NA 0.00219649 0.006 NA 0.0072 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808627 NA NA NA NA NA NA NA 3.994 1253 12 49720932 49720932 A C intronic TROAP NA NA NA intronic ENSG00000135451 NA NA NA NA NA 12q13.12 NA NA NA NA rs34098910 0.04 0.04 0.052 0.053115 0.006 0.001 0.0173 0.1641 0.0307 0.01 NA 0.03 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.130477 NA NA NA NA NA 0.072 NA 3.994 1253 17 76089958 76089958 G A intronic TNRC6C NA NA NA intronic ENSG00000078687 NA NA NA NA NA 17q25.3 NA NA NA NA rs139653937 0.01 0.01 0.003 0.0111821 0.006 0.0069 0.0159 0.0015 0.0307 0.01 0.0035 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891641 NA NA NA NA NA 0.007 NA 3.994 1253 X 2833752 2833752 C T intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs115063380 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160899 NA NA NA NA NA NA NA 3.994 1253 14 21461253 21461253 G C intronic METTL17 NA NA NA intronic ENSG00000165792 NA NA NA NA NA 14q11.2 NA NA NA NA rs139429771 0.0005 0.0005 0 0.000798722 0.003 NA 0.0014 NA NA 0.0013 NA NA NA 0.0014 0.0019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063686 NA NA 0.00186 0.000227 NA NA NA 3.99374 1253 17 5289999 5289999 A G intronic NUP88 NA NA NA intronic ENSG00000108559 NA NA NA NA NA 17p13.2 NA NA NA NA rs61004906 0.02 0.02 0.02 0.0217652 NA NA 0.0029 0.0809 NA NA NA 0.0028 0.08 0.0061 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992291 NA NA 0.000233 0.059918 NA 0.051 NA 3.993667 1253 18 57136884 57136884 G A intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs79596673 0.01 0.01 0.012 0.0203674 NA NA 0.013 0.0703 NA NA NA 0.01 0.05 0.0061 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272975 NA NA 0.000233 0.065138 NA 0.014 NA 3.993667 1253 12 12303722 12303722 C T intronic LRP6 NA NA NA intronic ENSG00000070018,ENSG00000121380 NA NA NA NA NA 12p13.2 NA NA NA NA rs148315761 0.0023 0.0023 0.002 0.00119808 0.003 NA 0.0029 0.0008 NA 0.004 NA 0.0028 0.002 0.0014 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441467 NA NA 0.002093 0.000454 NA NA NA 3.993507 1253 X 2833749 2833749 T C intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs112924969 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515506 NA NA NA NA NA NA NA 3.9935 1253 12 31311973 31311973 G A intergenic DDX11,FAM60A dist=54248;dist=121547 NA NA ncRNA_exonic ENSG00000177359 NA NA NA Score=363;Name=lod=40 NA 12p11.21 NA NA NA NA rs11502782 0.22 0.22 0.183 0.218251 0.3748 0.119 0.2017 0.1899 0.2096 0.36 0.12 0.2 0.14 0.2908 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128158 NA 0.01 0.340909 0.190568 NA 0.145 NA 3.993491 1253 10 62551603 62551603 T G intronic CDK1 NA NA NA intronic ENSG00000170312 NA NA NA NA NA 10q21.2 NA NA NA NA rs202194980 0.0014 0.0014 NA 0.000998403 0.003 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA 0.0022 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563789 NA NA 0.001397 0.000454 NA NA NA 3.993403 1253 5 172659511 172659511 C A UTR3 NKX2-5 NM_004387:c.*61G>T,NM_001166175:c.*989G>T,NM_001166176:c.*835G>T NA NA UTR3 ENSG00000183072 ENST00000329198:c.*61G>T NA NA NA NA 5q35.1 NA NA NA NA rs703752 0.24 0.24 0.228 0.255591 0.34 0.0724 0.2594 0.2511 0.3609 0.33 0.08 0.3 0.24 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305652 NA NA NA NA NA 0.275 NA 3.9933334 1253 20 62597694 62597694 T G exonic ZNF512B NA synonymous SNV ZNF512B:NM_020713:exon5:c.A834C:p.V278V exonic ENSG00000196700 NA synonymous SNV ENSG00000196700:ENST00000217130:exon5:c.A834C:p.V278V,ENSG00000196700:ENST00000369888:exon5:c.A834C:p.V278V,ENSG00000196700:ENST00000450537:exon5:c.A834C:p.V278V NA NA 20q13.33 NA NA NA NA rs817329 0.44 0.44 0.453 0.490415 0.5676 0.0546 0.428 0.7504 0.5532 0.57 0.06 0.43 0.7 0.5354 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.526452 NA NA 0.570349 0.731502 ID=COSM1130578;OCCURENCE=1(prostate) 0.391 NA 3.9933176 1253 19 9346482 9346482 T C intergenic OR7D4,OR7E24 dist=20935;dist=15238 NA NA ncRNA_exonic ENSG00000188314 NA NA NA NA NA 19p13.2 NA NA NA NA rs2015121 0.02 0.02 0.017 0.0279553 NA NA 0.0058 0.1029 NA NA NA 0.01 0.09 0.0067 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.66781 NA NA NA NA NA 0.029 NA 3.9933 1253 13 37012017 37012017 C A intronic CCNA1 NA NA NA intronic ENSG00000133101 NA NA NA NA NA 13q13.3 NA NA NA NA rs61755284 0.01 0.01 0.01 0.0107827 0.002 NA 0.0072 0.0356 NA 0.0013 NA 0.0028 0.04 0.004 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093518 NA NA 0.000814 0.032683 NA 0.007 NA 3.993186 1253 6 170033203 170033203 T C intronic WDR27 NA NA NA intronic ENSG00000184465 NA NA NA NA NA 6q27 NA NA NA NA rs201051132 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0018 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3573 NA NA 0.003027 0.000259 NA NA NA 3.993173 1253 7 100607851 100607851 C G intergenic ACHE,MUC12 dist=114310;dist=5053 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000422757:exon4:c.C468G:p.L156L,ENSG00000169894:ENST00000319509:exon5:c.C1998G:p.L666L NA NA 7q22.1 NA NA NA NA rs6960854 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5069 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165855 NA NA NA NA NA 0.29 NA 3.9931 1253 20 31765901 31765901 T C intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA NA NA NA rs8125150 0.03 0.03 0.032 0.0279553 0.005 NA 0.0058 0.0991 NA 0.01 NA 0.01 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144527 NA NA 0.001954 0.089923 NA 0.029 NA 3.993046 1253 5 41153884 41153884 G T intronic C6 NA NA NA intronic ENSG00000039537 NA NA NA NA NA 5p13.1 NA NA NA NA rs143785652 0.0014 0.0014 0.002 0.00199681 0.003 NA NA 0.0008 0.0061 0.0026 NA NA 0.002 0.0021 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.533524 3.533524 NA 0.00186 0 NA NA NA 3.99304 1253 22 42523409 42523409 G T intronic CYP2D6 NA NA NA ncRNA_intronic ENSG00000237037 NA NA NA NA NA 22q13.2 NA NA NA NA rs1985842 0.29 0.29 0.231 NA NA NA NA NA NA 0.33 0.24 0.34 0.25 0.3403 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791786 NA NA NA NA NA 0.232 NA 3.9930333 1253 2 43927831 43927831 G A intronic PLEKHH2 NA NA NA intronic ENSG00000152527 NA NA NA NA NA 2p21 NA NA NA NA rs113885926 0.04 0.04 0.031 0.0415335 0.007 0.0347 0.036 0.0696 0.0501 0.01 0.02 0.04 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906204 NA NA NA NA NA 0.072 NA 3.993 1253 3 56329979 56329979 A G intronic ERC2 NA NA NA intronic ENSG00000187672 NA NA NA NA NA 3p14.3 NA NA NA NA rs149091960 0.0023 0.0023 0.002 0.00519169 0.007 NA NA NA 0.0194 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.805453 NA NA NA NA NA NA NA 3.993 1253 3 185363485 185363485 G A intronic IGF2BP2 NA NA NA intronic ENSG00000073792 NA NA NA NA NA 3q27.2 NA NA NA NA rs187811147 0.0037 0.0037 NA 0.00159744 0.007 NA 0.0014 NA NA 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013777 NA NA NA NA NA NA NA 3.993 1253 5 61790042 61790042 T C intronic IPO11 NA NA NA intronic ENSG00000086200 NA NA NA NA NA 5q12.1 NA NA NA NA rs139009632 0.0027 0.0027 0.004 0.00159744 0.007 NA 0.0014 NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140874 NA NA NA NA NA NA NA 3.993 1253 10 98675668 98675668 C T intronic LCOR NA NA NA intronic ENSG00000196233 NA NA NA NA NA 10q24.1 NA NA NA NA rs76461465 0.0023 0.0023 0.003 0.00159744 0.007 NA NA 0.0008 NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822411 NA NA NA NA NA NA NA 3.993 1253 14 25326500 25326500 A T intronic STXBP6 NA NA NA intronic ENSG00000168952 NA NA NA NA NA 14q12 NA NA NA NA rs143936014 0.0041 0.0041 0.005 0.00239617 0.007 0.001 0.0058 NA NA 0.01 0.0017 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563855 NA NA NA NA NA NA NA 3.993 1253 16 72762554 72762554 G A intergenic PMFBP1,ZFHX3 dist=556205;dist=54232 NA NA ncRNA_exonic ENSG00000261764 NA NA NA NA NA 16q22.2 NA NA NA NA rs188012930 0.0027 0.0027 NA 0.00179712 0.007 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973964 NA NA NA NA NA NA NA 3.993 1253 18 21501608 21501608 C T intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs45523939 0.0032 0.0032 NA 0.00199681 0.007 NA 0.0014 0.0008 0.001 0.01 NA 0.0028 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012484 NA NA NA NA NA 0.007 NA 3.993 1253 21 44535723 44535723 A T intergenic U2AF1,CRYAA dist=8035;dist=53418 NA NA ncRNA_exonic ENSG00000232777 NA NA NA NA NA 21q22.3 NA NA NA NA rs118074764 0.0037 0.0037 0.002 0.00179712 0.007 NA 0.0029 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504892 NA NA NA NA NA NA NA 3.993 1253 19 4511140 4511140 C G exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon3:c.G2790C:p.G930G exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon3:c.G2790C:p.G930G NA NA 19p13.3 NA NA NA NA rs7255715 0.6 0.6 0.599 0.611222 0.5567 0.6577 0.4986 0.6702 0.6196 0.55 0.66 0.54 0.64 0.568 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101753 NA NA 0.549024 0.643452 NA 0.507 NA 3.9929426 1253 14 106866810 106866810 C T intergenic LINC00226,LINC00221 dist=121844;dist=71645 NA NA splicing ENSG00000211958 ENST00000390618:exon2:c.46+1G>A NA NA NA NA 14q32.33 NA NA NA NA rs73379088 NA NA 0.188 NA NA NA NA NA NA NA NA NA NA 0.1738 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052761 NA NA NA NA NA 0.123 NA 3.9928667 1253 19 9528489 9528489 T C intronic ZNF266 NA NA NA intronic ENSG00000174652 NA NA NA NA NA 19p13.2 NA NA NA NA rs41405044 0.02 0.02 0.023 0.0279553 NA 0.001 0.0058 0.1021 NA NA 0.0017 0.01 0.1 0.007 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938064 NA NA 0.000349 0.074444 NA 0.036 NA 3.992651 1253 2 103414475 103414475 T C intronic TMEM182 NA NA NA intronic ENSG00000170417 NA NA NA NA NA 2q12.1 NA NA NA NA rs57977938 0.02 0.02 0.019 0.0191693 0.001 NA 0.0058 0.0688 NA NA NA 0.01 0.07 0.0055 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261475 NA NA 0.00093 0.053109 NA 0.029 NA 3.99257 1253 17 5336594 5336594 C A intronic C1QBP NA NA NA intronic ENSG00000108561 NA NA NA NA NA 17p13.2 NA NA NA NA rs7220640 0.02 0.02 0.021 0.0251597 NA NA 0.0043 0.093 NA NA NA 0.01 0.09 0.0074 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390708 NA NA 0.000233 0.073763 NA 0.051 NA 3.992367 1253 3 52259459 52259459 T C intronic TLR9 NA NA NA intronic ENSG00000173366,ENSG00000239732 NA NA NA NA NA 3p21.2 NA NA NA NA rs373979034 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA NA 0.0057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959718 NA NA 0.005657 0 NA NA NA 3.992343 1253 11 5631479 5631479 A C intronic TRIM6,TRIM6-TRIM34 NA NA NA ncRNA_intronic ENSG00000239920 NA NA NA Score=304;Name=lod=23 NA 11p15.4 NA NA NA NA rs3740999 0.29 0.29 0.276 0.264976 0.492 0.0427 0.2954 0.2988 0.1933 0.5 0.03 0.33 0.25 0.3721 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.24417 2.24417 NA 0.477193 0.300545 NA 0.326 NA 3.9920403 1253 2 86272643 86272643 A G intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA NA NA 2p11.2 NA NA NA NA rs72847858 0.0041 0.0041 NA 0.00259585 0.008 NA 0.0043 0.0015 NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520808 1.520808 NA NA NA NA 0.087 NA 3.992 1253 3 75385215 75385215 C T intergenic MIR4444-1,FAM86DP dist=121516;dist=85488 NA NA ncRNA_intronic ENSG00000228868 NA NA NA NA NA 3p12.3 NA NA NA NA rs147772904 0.01 0.01 0.003 0.00499201 0.008 NA 0.0072 0.0015 0.0102 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.995836 NA NA NA NA NA NA NA 3.992 1253 4 17824830 17824830 C T intronic NCAPG NA NA NA intronic ENSG00000109805 NA NA NA NA NA 4p15.31 NA NA NA NA rs41268413 0.0046 0.0046 0.004 0.00599042 0.008 NA 0.0058 NA 0.0184 0.01 NA 0.0028 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.691367 1.691367 NA NA NA NA 0.007 NA 3.992 1253 4 159642434 159642434 A G intronic PPID NA NA NA intronic ENSG00000171497 NA NA NA NA NA 4q32.1 NA NA NA NA rs17843891 0.05 0.05 0.057 0.0654952 0.008 0.002 0.0187 0.2209 0.0133 0.01 0.0035 0.01 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.734747 2.734747 NA NA NA NA 0.072 NA 3.992 1253 5 32397248 32397248 T C intronic ZFR NA NA NA intronic ENSG00000056097 NA NA NA NA NA 5p13.3 NA NA NA NA rs150395277 0.0037 0.0037 0.003 0.00179712 0.008 NA 0.0014 NA NA 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521418 NA NA NA NA NA NA NA 3.992 1253 8 48035119 48035119 C T intergenic LINC00293,LOC100287846 dist=267712;dist=65811 NA NA ncRNA_intronic ENSG00000248347 NA NA NA NA NA 8q11.1 NA NA NA NA rs182259055 0.01 0.01 NA 0.00439297 0.008 NA 0.0072 NA 0.0092 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214871 NA NA NA NA NA NA NA 3.992 1253 8 123966379 123966379 G A intronic ZHX2 NA NA NA intronic ENSG00000178764 NA NA NA NA NA 8q24.13 NA NA NA NA rs16897799 0.02 0.02 0.01 0.0191693 0.008 0.0317 0.0519 0.0023 0.0174 0.01 0.03 0.06 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277778 NA NA NA NA NA 0.022 NA 3.992 1253 9 131568372 131568372 C A intronic TBC1D13 NA NA NA intronic ENSG00000107021 NA NA NA NA NA 9q34.11 NA NA NA NA rs147552518 0.0023 0.0023 0.002 0.00299521 0.008 NA 0.0058 NA 0.0031 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117215 NA NA NA NA NA NA NA 3.992 1253 9 131750556 131750556 A T intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA NA NA NA rs139177125 0.0027 0.0027 0.003 0.00279553 0.008 NA 0.0058 NA 0.002 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640558 NA NA NA NA NA NA NA 3.992 1253 11 93463961 93463961 G A upstream;downstream SNORA25;KIAA1731,SNORA32,SNORD6 NA NA NA UTR3 ENSG00000166012 ENST00000323981:c.*656C>T NA NA NA NA 11q21 NA NA NA NA rs61921277 0.01 0.01 0.013 0.0155751 0.008 0.005 0.0231 0.0295 0.0102 0.004 0.01 0.02 0.02 NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.178116 NA NA NA NA NA 0.036 NA 3.992 1253 16 3338382 3338382 G A intronic ZNF263 NA NA NA intronic ENSG00000006194 NA NA NA NA NA 16p13.3 NA NA NA NA rs146378818 0.0032 0.0032 0.003 0.00359425 0.008 NA 0.0101 NA 0.0031 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328925 NA NA NA NA NA NA NA 3.992 1253 19 33131423 33131423 T C intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs28542503 0.13 0.13 0.16 0.151558 0.008 0.0496 0.0432 0.4939 0.0184 0.01 0.06 0.05 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513176 NA NA NA NA NA 0.254 NA 3.992 1253 19 43699005 43699005 C A intronic PSG4 NA NA NA intronic ENSG00000243137 NA NA NA NA NA 19q13.31 NA NA NA NA rs144547873 0.0046 0.0046 0.001 0.00379393 0.008 NA 0.0043 0.0053 0.001 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682172 NA NA NA NA NA NA NA 3.992 1253 20 31812825 31812825 G A intronic BPIFA3 NA NA NA intronic ENSG00000131059 NA NA NA NA NA 20q11.21 NA NA NA NA rs6057770 0.13 0.13 0.16 0.147963 0.008 0.0308 0.036 0.5113 0.001 0.01 0.03 0.04 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043933 NA NA NA NA NA 0.181 NA 3.992 1253 3 16364919 16364919 A C exonic RFTN1 NA synonymous SNV RFTN1:NM_015150:exon9:c.T1296G:p.P432P exonic ENSG00000131378 NA synonymous SNV ENSG00000131378:ENST00000607320:exon2:c.T141G:p.P47P,ENSG00000131378:ENST00000432519:exon8:c.T1188G:p.P396P,ENSG00000131378:ENST00000334133:exon9:c.T1296G:p.P432P NA NA 3p25.1 NA NA NA NA rs690216 0.59 0.59 0.604 0.577276 0.5626 0.5149 0.5375 0.7375 0.4683 0.58 0.49 0.54 0.76 0.5519 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313796 1.313796 NA 0.560233 0.688153 NA 0.623 NA 3.9919336 1253 11 118509668 118509668 A G exonic PHLDB1 NA synonymous SNV PHLDB1:NM_001144758:exon11:c.A2595G:p.E865E,PHLDB1:NM_001144759:exon11:c.A2595G:p.E865E,PHLDB1:NM_015157:exon12:c.A2595G:p.E865E exonic ENSG00000019144 NA synonymous SNV ENSG00000019144:ENST00000356063:exon11:c.A2595G:p.E865E,ENSG00000019144:ENST00000528594:exon11:c.A2595G:p.E865E,ENSG00000019144:ENST00000361417:exon12:c.A2595G:p.E865E,ENSG00000019144:ENST00000530994:exon12:c.A2595G:p.E865E NA NA 11q23.3 NA NA NA NA rs483598 0.58 0.58 0.58 0.572684 0.5368 0.6558 0.7089 0.4773 0.5562 0.52 0.72 0.65 0.47 0.5861 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380689 NA NA 0.552037 0.474534 NA 0.536 NA 3.9917296 1253 9 140006491 140006491 C T intronic DPP7 NA NA NA intronic ENSG00000176978 NA NA NA NA NA 9q34.3 NA Name=CTCF NA NA rs10870180 0.18 0.18 0.196 0.170927 0.3549 0.004 0.2248 0.0363 0.2975 0.36 0.0017 0.26 0.05 0.2855 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.750394 1.750394 NA 0.367907 0.101499 NA 0.283 NA 3.991693 1253 5 148406032 148406032 C T intronic SH3TC2 NA NA NA UTR3 ENSG00000169247 ENST00000513604:c.*2651G>A NA NA NA NA 5q32 NA NA NA NA rs10075404 0.26 0.26 0.236 0.27476 0.175 0.3264 0.3545 0.2519 0.2986 0.19 0.33 0.31 0.25 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025942 NA NA NA NA NA 0.145 NA 3.9916667 1253 1 207143550 207143550 C T UTR5 FCAMR NM_001170631:c.-80G>A,NM_032029:c.-80G>A,NM_001122979:c.-80G>A NA NA UTR5 ENSG00000162897 ENST00000324863:c.-80G>A,ENST00000400962:c.-80G>A,ENST00000324852:c.-80G>A NA NA NA NA 1q32.1 NA NA NA NA rs1340232 0.2 0.2 0.189 0.172923 0.1551 0.244 0.1499 0.2141 0.0787 0.16 0.23 0.16 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869244 NA NA 0.186675 0.177023 NA 0.254 NA 3.9915584 1253 8 22415573 22415573 G A intronic SORBS3 NA NA NA intronic ENSG00000120896 NA NA NA NA NA 8p21.3 NA NA NA NA rs10104875 0.09 0.09 0.094 0.111621 0.004 0.1091 0.0331 0.2965 0.0307 0.0013 0.08 0.04 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299028 NA NA 0.004714 0.24711 NA 0.08 NA 3.991286 1253 2 112705187 112705187 G A intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA NA NA NA rs17042096 0.01 0.01 0.015 0.0165735 0.002 NA 0.013 0.0537 0.001 NA NA 0.01 0.04 0.0057 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434325 NA NA 0.001165 0.037972 NA 0.022 NA 3.991135 1253 2 122208642 122208642 A T intronic CLASP1 NA NA NA intronic ENSG00000074054 NA NA NA NA NA 2q14.2 NA NA NA NA rs149562321 0.0032 0.0032 0.002 0.00239617 0.0089 NA 0.0043 NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.71136 1.71136 NA NA NA NA NA NA 3.9911 1253 6 10709075 10709075 A C intronic PAK1IP1 NA NA NA intronic ENSG00000111845 NA NA NA NA NA 6p24.2 NA NA NA NA rs6912993 0.18 0.18 0.195 0.240415 0.0089 0.0377 0.0605 0.7973 0.0624 0.01 0.03 0.05 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103447 NA NA NA NA NA 0.254 NA 3.9911 1253 7 88194530 88194530 G T intergenic STEAP4,ZNF804B dist=258302;dist=194223 NA NA ncRNA_exonic ENSG00000228928 NA NA NA NA NA 7q21.12 NA NA NA NA rs117931259 0.0032 0.0032 0.01 0.00379393 0.0089 NA 0.0058 NA 0.0061 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.867887 NA NA NA NA NA 0.007 NA 3.9911 1253 8 110394584 110394584 A G intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs184912452 0.01 0.01 NA 0.00938498 0.0089 NA 0.0159 NA 0.0276 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039286 NA NA NA NA NA NA NA 3.9911 1253 8 110439121 110439121 A G intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs146559431 0.01 0.01 0.013 0.0157748 0.0089 NA 0.0159 0.0242 0.0276 0.01 NA 0.01 0.02 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585976 NA NA NA NA NA 0.022 NA 3.9911 1253 8 110439129 110439129 G A intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs139408399 0.01 0.01 0.011 0.0159744 0.0089 NA 0.0159 0.025 0.0276 0.01 NA 0.01 0.02 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904417 NA NA NA NA NA 0.022 NA 3.9911 1253 8 125334234 125334234 G C intronic TMEM65 NA NA NA intronic ENSG00000164983 NA NA NA NA NA 8q24.13 NA NA NA NA rs192897855 0.01 0.01 NA 0.00359425 0.0089 NA 0.0014 0.0008 0.0072 0.01 NA 0.0028 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39819 NA NA NA NA NA 0.007 NA 3.9911 1253 11 120980277 120980277 C T intronic TECTA NA NA NA intronic ENSG00000109927 NA NA NA NA NA 11q23.3 NA NA NA NA rs55885159 0.0027 0.0027 0.002 0.00698882 0.0089 NA 0.0014 NA 0.0256 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.529994 NA NA NA NA NA NA NA 3.9911 1253 21 47859926 47859926 C T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs117926177 0.0041 0.0041 0.003 0.00279553 0.0089 NA 0.0043 NA 0.002 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912844 NA NA NA NA NA NA NA 3.9911 1253 2 233721455 233721455 G A intronic GIGYF2 NA NA NA intronic ENSG00000204120 NA NA NA NA NA 2q37.1 NA Name=JunD,Pol2-4H8,Max,CEBPB,TBP,p300_(N-15) Name=79 NA rs1947105 0.71 0.71 0.723 0.640176 0.7127 0.6448 0.6945 0.761 0.3589 0.72 0.68 0.71 0.74 0.646 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382866 NA NA 0.650233 0.737177 NA 0.696 NA 3.991067 1253 14 101429459 101429459 G C ncRNA_exonic SNORD114-7 NA NA NA ncRNA_exonic ENSG00000199390 NA NA NA NA NA 14q32.31 NA NA NA NA rs72700530 0.13 0.13 0.118 0.105431 0.2455 0.0605 0.1383 0.0106 0.1125 0.24 0.06 0.17 0.01 0.1742 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056947 NA NA 0.255902 0.057078 NA 0.225 NA 3.9910646 1253 5 139892380 139892380 C T intronic ANKHD1,ANKHD1-EIF4EBP3 NA NA NA intronic ENSG00000131503,ENSG00000254996 NA NA NA NA NA 5q31.3 NA NA NA NA rs185656503 0.0018 0.0018 NA 0.000599042 0.003 NA NA NA NA 0.01 NA NA NA 0.0036 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134189 NA NA 0.002444 0.000227 NA 0.007 NA 3.990956 1253 2 97278187 97278187 G A intronic KANSL3 NA NA NA intronic ENSG00000114982 NA NA NA NA NA 2q11.2 NA NA NA NA rs199948436 0.0005 0.0005 NA 0.00139776 0.002 NA 0.0043 NA 0.002 0.0013 NA NA NA 0.0027 0.0044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367904 NA NA 0.00443 0.000493 NA NA NA 3.99087 1253 3 9908749 9908749 G C UTR3 CIDEC NM_001199623:c.*69C>G,NM_001199552:c.*69C>G,NM_001199551:c.*69C>G,NM_022094:c.*69C>G NA NA UTR3 ENSG00000187288 ENST00000423850:c.*69C>G,ENST00000455015:c.*69C>G,ENST00000336832:c.*69C>G,ENST00000383817:c.*37C>G,ENST00000430427:c.*69C>G,ENST00000443115:c.*37C>G NA NA NA NA 3p25.3 NA NA NA NA rs1053239 0.24 0.24 0.198 0.21905 0.1541 0.5933 0.1686 0.0061 0.2239 0.16 0.59 0.15 0.01 0.1884 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470851 NA NA NA NA NA 0.167 NA 3.9908334 1253 7 101844632 101844632 C T intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs201396561 0.0009 0.0009 NA 0.000798722 0.004 NA NA NA NA 0.0026 NA NA NA 0.0018 0.0035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196442 NA NA 0.003489 0.000454 NA NA NA 3.990711 1253 2 133541444 133541444 T C exonic NCKAP5 NA synonymous SNV NCKAP5:NM_207363:exon14:c.A2940G:p.P980P exonic ENSG00000176771 NA synonymous SNV ENSG00000176771:ENST00000317721:exon12:c.A2940G:p.P980P,ENSG00000176771:ENST00000409261:exon14:c.A2940G:p.P980P NA NA 2q21.2 NA NA NA NA rs12691829 0.71 0.71 0.724 0.717452 0.5219 0.871 0.6729 0.851 0.6115 0.52 0.89 0.64 0.85 0.6114 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.635143 NA NA 0.542732 0.816516 NA 0.746 NA 3.9906346 1253 19 35510504 35510504 A G intronic GRAMD1A NA NA NA ncRNA_intronic ENSG00000271032 NA NA NA NA NA 19q13.12 NA NA NA NA rs68162641 0.25 0.25 0.241 0.205072 0.3429 0.2173 0.2896 0.0961 0.138 0.34 0.2 0.3 0.11 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343358 NA NA NA NA NA 0.232 NA 3.9904333 1253 6 107103621 107103621 T G intronic QRSL1 NA NA NA intronic ENSG00000130348 NA NA NA NA NA 6q21 NA NA NA NA rs146640596 0.0009 0.0009 0.001 0.00199681 0.004 NA NA NA 0.0061 0.0026 NA NA NA 0.003 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694 NA NA 0.002791 0.000454 NA NA NA 3.990209 1253 6 160482513 160482513 G A intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs55987231 0.0014 0.0014 NA 0.00199681 0.001 NA 0.0086 0.0023 NA NA NA 0.01 NA 0.0028 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696118 NA NA 0.006047 0.001135 NA NA NA 3.990153 1253 1 12320949 12320949 T G intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs6657877 0.04 0.04 0.039 0.0427316 0.0099 NA 0.0173 0.1392 0.0082 0.01 NA 0.02 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46411 NA NA NA NA NA 0.043 NA 3.9901 1253 1 12371807 12371807 G A intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs17037975 0.02 0.02 0.018 0.0215655 0.0099 0.001 0.0144 0.0582 0.0102 0.01 0.0017 0.02 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.944472 NA NA NA NA NA 0.014 NA 3.9901 1253 6 44390290 44390290 A G intronic CDC5L NA NA NA intronic ENSG00000096401 NA NA NA NA NA 6p21.1 NA NA NA NA rs11572005 0.01 0.01 0.013 0.00898562 0.0099 NA 0.013 0.0189 0.001 0.01 NA 0.01 0.01 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476085 NA NA NA NA NA 0.022 NA 3.9901 1253 6 49703378 49703378 T C intronic CRISP3 NA NA NA intronic ENSG00000096006 NA NA NA NA NA 6p12.3 NA NA NA NA rs62413629 0.01 0.01 0.005 0.00399361 0.0099 NA 0.0043 NA 0.0072 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171747 NA NA NA NA NA NA NA 3.9901 1253 10 37284092 37284092 G A intergenic FZD8,ANKRD30A dist=1353730;dist=130693 NA NA ncRNA_exonic ENSG00000225355 NA NA NA NA NA 10p11.21 NA NA NA NA rs73238701 0.04 0.04 0.049 0.0515176 0.0099 NA 0.0159 0.1793 NA 0.01 NA 0.01 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26411 NA NA NA NA NA 0.043 NA 3.9901 1253 11 120973516 120973516 C T intronic TECTA NA NA NA intronic ENSG00000109927 NA NA NA NA NA 11q23.3 NA NA NA NA rs56358414 0.03 0.03 0.032 0.0411342 0.0099 NA 0.0101 0.1248 0.0245 0.01 NA 0.0028 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.037872 2.037872 NA NA NA NA 0.036 NA 3.9901 1253 12 1992265 1992265 G T intronic CACNA2D4 NA NA NA intronic ENSG00000151062 NA NA NA NA NA 12p13.33 NA NA NA NA rs79864920 0.05 0.05 0.055 0.0636981 0.0099 0.0099 0.0187 0.174 0.0573 0.01 0.02 0.02 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400045 NA NA NA NA NA 0.029 NA 3.9901 1253 15 42438508 42438508 C T intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs116962748 0.01 0.01 0.005 0.00419329 0.0099 NA 0.0086 NA 0.0051 0.01 NA 0.01 0.002 NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526378 NA NA NA NA NA 0.014 NA 3.9901 1253 17 38910521 38910521 A G intronic KRT25 NA NA NA intronic ENSG00000204897 NA NA NA NA NA 17q21.2 NA NA NA NA rs141167201 0.0046 0.0046 0.003 0.00419329 0.0099 NA 0.0159 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047246 NA NA NA NA NA NA NA 3.9901 1253 20 23666675 23666675 A T intronic CST4 NA NA NA intronic ENSG00000101441 NA NA NA NA NA 20p11.21 NA NA NA NA rs193005225 0.01 0.01 NA 0.00359425 0.0099 NA 0.0101 NA 0.001 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106914 NA NA NA NA NA NA NA 3.9901 1253 21 46696834 46696834 C T intronic POFUT2 NA NA NA intronic ENSG00000186866 NA NA NA NA NA 21q22.3 NA NA NA NA rs111476409 0.01 0.01 0.005 0.00299521 0.0099 NA 0.0043 NA 0.002 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230777 NA NA NA NA NA NA NA 3.9901 1253 19 38847208 38847208 C T intronic CATSPERG NA NA NA intronic ENSG00000099338 NA NA NA NA NA 19q13.2 NA NA NA NA rs184862901 0.0023 0.0023 NA 0.00179712 0.004 NA 0.0058 NA 0.001 0.0026 NA 0.01 NA 0.0024 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551335 NA NA 0.003605 0.000227 NA 0.007 NA 3.989995 1253 19 49519873 49519873 G C exonic LHB NA synonymous SNV LHB:NM_000894:exon2:c.C114G:p.V38V exonic ENSG00000104826 NA synonymous SNV ENSG00000104826:ENST00000221421:exon2:c.C114G:p.V38V NA NA 19q13.33 NA NA NA NA rs6521 0.49 0.49 0.391 0.493011 0.5835 0.3343 0.6081 0.4569 0.5307 0.58 0.33 0.57 0.47 0.5525 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.250067 NA NA 0.540698 0.441443 NA 0.565 NA 3.9899686 1253 1 155755198 155755198 T G intronic GON4L NA NA NA intronic ENSG00000116580 NA NA NA NA NA 1q22 NA NA NA NA rs41409345 0.02 0.02 0.026 0.0341454 NA 0.001 0.0043 0.1104 0.0215 NA NA 0.01 0.09 0.0098 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093267 NA NA 0.000233 0.065138 NA 0.029 NA 3.989967 1253 8 23159724 23159724 A G intronic LOXL2 NA NA NA intronic ENSG00000134013 NA NA NA NA NA 8p21.3 NA NA NA NA rs201185197 0.0009 0.0009 NA 0.000599042 0.001 NA 0.0014 0.0008 NA 0.0013 NA 0.0028 NA 0.003 0.006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631865 NA NA 0.006047 0.001362 NA NA NA 3.989953 1253 2 177193557 177193557 C T intronic MTX2 NA NA NA intronic ENSG00000128654 NA NA NA NA NA 2q31.1 NA NA NA NA rs146164822 0.0023 0.0023 0.002 0.00139776 0.004 NA 0.0029 0.0008 NA 0.004 NA 0.0028 0.002 0.0029 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.976884 2.976884 NA 0.003257 0.000681 NA NA NA 3.989843 1253 8 42938367 42938367 G C intronic FNTA NA NA NA intronic ENSG00000168522 NA NA NA NA NA 8p11.21 NA NA NA NA rs199935323 0.0009 0.0009 NA 0.000998403 0.004 NA 0.0014 NA NA 0.0026 NA NA NA 0.0025 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422609 NA NA 0.003721 0 NA 0.007 NA 3.989779 1253 11 838110 838110 C T intronic CD151 NA NA NA intronic ENSG00000177697,ENSG00000177700 NA NA NA NA NA 11p15.5 NA Name=ZNF263 Name=6 NA rs5030780 0.71 0.71 0.67 0.641573 0.663 0.8552 0.7925 0.5295 0.4438 0.67 0.89 0.78 0.52 0.6697 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24358 NA NA 0.677682 0.549705 NA 0.594 NA 3.989618 1253 20 36855524 36855524 T C intronic KIAA1755 NA NA NA intronic ENSG00000149633 NA NA NA NA NA 20q11.23 NA NA NA NA rs76226431 0.02 0.02 0.019 0.0249601 0.001 0.0427 0.0058 0.0552 0.0041 NA 0.04 0.01 0.05 0.0092 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460611 NA NA 0.000349 0.041761 NA 0.007 NA 3.989451 1253 X 52891645 52891645 A G UTR3 XAGE3 NM_130776:c.*2T>C,NM_133179:c.*2T>C NA NA UTR3 ENSG00000171402 ENST00000346279:c.*2T>C,ENST00000375491:c.*2T>C NA NA NA NA Xp11.22 NA NA NA NA rs75808475 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3439 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.13362 NA NA NA NA ID=COSN215910;OCCURENCE=1(central_nervous_system) 0.014 NA 3.9894334 1253 1 53261875 53261875 T A intronic ZYG11B NA NA NA intronic ENSG00000162378 NA NA NA NA NA 1p32.3 NA NA NA NA rs145784476 0.01 0.01 0.006 0.0081869 0.0109 NA 0.0231 0.0091 0.002 0.01 NA 0.03 0.01 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607667 NA NA NA NA NA 0.029 NA 3.9891 1253 1 149907919 149907919 C T intronic MTMR11 NA NA NA intronic ENSG00000014914 NA NA NA NA NA 1q21.2 NA NA NA NA rs61807548 0.01 0.01 0.006 0.00479233 0.0109 NA 0.0043 NA 0.0102 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264075 NA NA NA NA NA 0.014 NA 3.9891 1253 3 51456076 51456076 G C intronic VPRBP NA NA NA intronic ENSG00000145041 NA NA NA NA NA 3p21.2 NA NA NA NA rs146589103 0.01 0.01 0.006 0.00439297 0.0109 NA 0.0101 0.0008 0.0031 0.01 NA 0.01 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664963 NA NA NA NA NA NA NA 3.9891 1253 3 169548535 169548535 C A intronic LRRIQ4 NA NA NA intronic ENSG00000188306 NA NA NA NA NA 3q26.2 NA NA NA NA rs58497965 0.09 0.09 0.093 0.0778754 0.0109 0.3026 0.0793 0.0015 0.0174 0.01 0.3 0.06 0.002 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220242 NA NA NA NA NA 0.043 NA 3.9891 1253 7 42836505 42836505 T C intergenic GLI3,C7orf25 dist=559887;dist=112367 NA NA ncRNA_intronic ENSG00000229161 NA NA NA NA NA 7p14.1 NA NA NA NA rs141749281 0.04 0.04 0.04 0.0505192 0.0109 NA 0.0202 0.1725 NA 0.0013 NA 0.03 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505092 NA NA NA NA NA 0.043 NA 3.9891 1253 7 101844528 101844528 G A intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs117206331 0.0027 0.0027 0 0.00219649 0.0109 NA NA NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31272 NA NA NA NA NA NA NA 3.9891 1253 13 34404768 34404768 A T intronic RFC3 NA NA NA intronic ENSG00000133119 NA NA NA NA NA 13q13.2 NA NA NA NA rs3135601 0.03 0.03 0.026 0.0415335 0.0109 0.0327 0.0231 0.0643 0.0644 0.01 0.02 0.02 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152361 NA NA NA NA NA 0.036 NA 3.9891 1253 16 77775917 77775917 A G UTR3 NUDT7 NM_001243661:c.*70A>G,NM_001243660:c.*70A>G,NM_001243657:c.*368A>G,NM_001105663:c.*70A>G NA NA ncRNA_exonic ENSG00000261707 NA NA NA NA NA 16q23.1 NA NA NA NA rs1133108 0.36 0.36 0.335 0.325679 0.5109 0.2897 0.3718 0.177 0.3405 0.52 0.29 0.39 0.17 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5279 NA NA NA NA NA 0.312 NA 3.9891 1253 17 73698481 73698481 G C intronic SAP30BP NA NA NA intronic ENSG00000161526 NA NA NA NA NA 17q25.1 NA NA NA NA rs6501830 0.19 0.19 0.191 0.221645 0.0109 0.3482 0.2089 0.3011 0.2096 0.01 0.39 0.16 0.26 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.279026 NA NA NA NA NA 0.13 NA 3.9891 1253 19 30099428 30099428 T C intronic POP4 NA NA NA intronic ENSG00000105171 NA NA NA NA NA 19q12 NA NA NA NA rs112237621 0.03 0.03 0.031 0.0465256 0.0109 0.0069 0.0274 0.0666 0.1104 0.01 NA 0.04 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645337 NA NA NA NA NA 0.022 NA 3.9891 1253 1 67592840 67592840 G A intronic C1orf141 NA NA NA intronic ENSG00000203963 NA NA NA NA NA 1p31.3 NA NA NA NA rs7525652 0.03 0.03 0.029 0.0313498 0.001 0.0089 0.0058 0.1082 NA NA 0.01 0.01 0.09 0.0095 0.093 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.618225 1.618225 NA 0.000582 0.092643 NA 0.029 NA 3.988918 1253 17 33687420 33687420 C A intronic SLFN11 NA NA NA intronic ENSG00000172716 NA NA NA NA NA 17q12 NA NA NA NA rs141261472 0.0032 0.0032 0.003 0.00319489 0.005 NA 0.0072 0.0045 NA 0.004 NA 0.01 0.002 0.0031 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.368977 NA NA 0.003023 0.002952 NA NA NA 3.988877 1253 7 36492212 36492212 C T UTR3 ANLN NM_018685:c.*3C>T NA NA UTR3 ENSG00000011426 ENST00000265748:c.*3C>T,ENST00000396068:c.*3C>T NA NA NA NA 7p14.2 NA NA NA NA rs2052197 0.12 0.12 0.11 0.13099 0.1004 0.1875 0.1715 0.0915 0.1288 0.11 0.16 0.14 0.09 0.129 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397609 NA NA 0.115233 0.103268 NA 0.167 NA 3.9887004 1253 16 19034406 19034406 A C intronic TMC7 NA NA NA intronic ENSG00000170537 NA NA NA NA NA 16p12.3 NA NA NA NA rs117741115 0.0014 0.0014 0.001 0.00279553 0.004 NA NA NA 0.0102 0.004 NA NA NA 0.0041 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470625 NA NA 0.003256 0 NA NA NA 3.988644 1253 1 151679900 151679900 C T intronic CELF3 NA NA NA ncRNA_intronic ENSG00000227045 NA NA NA NA NA 1q21.3 NA NA NA NA rs10888428 0.47 0.47 0.447 0.511781 0.3449 0.6359 0.5317 0.4902 0.5706 0.34 0.61 0.51 0.5 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.307006 NA NA NA NA NA 0.522 NA 3.9884333 1253 5 138356756 138356756 G A intronic SIL1 NA NA NA ncRNA_intronic ENSG00000249593 NA NA NA NA NA 5q31.2 NA NA NA NA rs10077896 0.36 0.36 0.359 0.372404 0.3449 0.1558 0.3833 0.5908 0.3211 0.35 0.15 0.41 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188637 NA NA NA NA NA 0.37 NA 3.9884333 1253 17 39580816 39580816 G C UTR5 KRT37 NM_003770:c.-41C>G NA NA ncRNA_exonic ENSG00000234859 NA NA NA NA NA 17q21.2 NA NA NA NA rs72485487 0.17 0.17 0.146 0.172324 0.1759 0.3224 0.1268 0.034 0.2331 0.18 0.31 0.13 0.04 0.1614 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413601 NA NA 0.174465 0.053734 NA 0.109 NA 3.988235 1253 9 19063786 19063786 T C intronic HAUS6 NA NA NA intronic ENSG00000147874 NA NA NA NA NA 9p22.1 NA NA NA NA rs145055829 0.0018 0.0018 0.002 0.00219649 0.006 NA NA NA 0.0051 0.01 NA NA NA 0.0026 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.631317 2.631317 NA 0.003265 0.000571 NA NA NA 3.988135 1253 16 10775826 10775826 G A intronic TEKT5 NA NA NA intronic ENSG00000153060 NA NA NA NA NA 16p13.13 NA NA NA NA rs147251977 0.0018 0.0018 0.002 0.00219649 0.006 NA 0.0058 NA 0.001 0.004 NA 0.0028 NA 0.0025 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419687 NA NA 0.003372 0.000683 NA NA NA 3.988128 1253 1 37335237 37335237 C T intronic GRIK3 NA NA NA intronic ENSG00000163873 NA NA NA NA NA 1p34.3 NA NA NA NA rs143263603 0.01 0.01 0.005 0.00459265 0.0119 NA 0.013 0.0015 NA 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.906945 1.906945 NA NA NA NA NA NA 3.9881 1253 1 166973358 166973358 C T intronic MAEL NA NA NA intronic ENSG00000143194 NA NA NA NA NA 1q24.1 NA NA NA NA rs12567885 0.09 0.09 0.081 0.0752796 0.0119 0.2688 0.049 0.0008 0.0603 0.02 0.31 0.04 0.002 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383696 NA NA NA NA NA 0.051 NA 3.9881 1253 4 148440907 148440907 A C intronic EDNRA NA NA NA intronic ENSG00000151617 NA NA NA NA NA 4q31.22 NA NA NA NA rs10305899 0.01 0.01 0.005 0.00439297 0.0119 NA 0.013 NA 0.001 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602983 NA NA NA NA NA 0.051 NA 3.9881 1253 6 13794033 13794033 A G intronic MCUR1 NA NA NA intronic ENSG00000050393 NA NA NA NA NA 6p23 NA NA NA NA rs72831080 0.0046 0.0046 0.004 0.00239617 0.0119 NA NA NA NA 0.01 NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585622 NA NA NA NA NA 0.058 NA 3.9881 1253 11 63006411 63006411 A G intergenic SLC22A25,MIR3680-1 dist=9287;dist=8210 NA NA ncRNA_exonic ENSG00000256863 NA NA NA NA NA 11q12.3 NA NA NA NA rs188854640 0.0032 0.0032 NA 0.00319489 0.0119 NA 0.0058 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150664 NA NA NA NA NA NA NA 3.9881 1253 1 26080112 26080112 A G intronic MAN1C1 NA NA NA intronic ENSG00000117643 NA NA NA NA NA 1p36.11 NA NA NA NA rs202190357 0.0009 0.0009 NA 0.000998403 0.004 NA 0.0014 NA NA 0.0026 NA NA NA 0.0033 0.0048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65431 NA NA 0.004767 0.001135 NA NA NA 3.987933 1253 11 842543 842543 C G upstream POLR2L,TSPAN4 NA NA NA UTR5 ENSG00000177700 ENST00000322028:c.-35G>C NA NA NA NA 11p15.5 NA Name=Oct-2,RXRA,POU2F2,TAF1,ETS1,E2F6_(H-50),YY1_(C-20),TAF7_(SQ-8),Pol2,SP1,Pol2(phosphoS2),c-Myc,BCL3,HEY1,NFKB,TBP,IRF1,TCF12,Pol2(b),Sin3Ak-20,Pol2-4H8,YY1 Name=145 NA rs28372895 0.68 0.68 0.643 0.642971 0.664 0.8571 0.7925 0.5356 0.4397 0.63 0.87 0.74 0.51 0.6722 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110551 NA NA 0.675915 0.549954 NA NA NA 3.987885 1253 10 115417289 115417289 G A exonic NRAP NA synonymous SNV NRAP:NM_001261463:exon4:c.C300T:p.H100H,NRAP:NM_006175:exon4:c.C300T:p.H100H,NRAP:NM_198060:exon4:c.C300T:p.H100H exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000359988:exon4:c.C300T:p.H100H,ENSG00000197893:ENST00000360478:exon4:c.C300T:p.H100H,ENSG00000197893:ENST00000369358:exon4:c.C300T:p.H100H,ENSG00000197893:ENST00000369360:exon4:c.C300T:p.H100H Score=477;Name=lod=116 NA 10q25.3 NA NA NA NA rs1891762 0.88 0.88 0.876 0.876597 0.8917 0.9038 0.9092 0.8071 0.9039 0.89 0.92 0.9 0.81 0.8949 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917879 NA NA 0.892326 0.819791 NA 0.913 NA 3.9877406 1253 5 138356775 138356775 C A intronic SIL1 NA NA NA ncRNA_intronic ENSG00000249593 NA NA NA NA NA 5q31.2 NA NA NA NA rs10077796 0.42 0.42 0.443 0.437899 0.3459 0.1845 0.3905 0.8109 0.3231 0.36 0.19 0.41 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948623 NA NA NA NA NA 0.449 NA 3.9874333 1253 11 2416293 2416293 A G intronic CD81 NA NA NA intronic ENSG00000110651 NA NA NA NA NA 11p15.5 NA NA NA NA rs11820341 0.02 0.02 0.028 0.0329473 0.002 NA 0.0101 0.118 NA NA NA 0.01 0.1 0.0099 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915494 NA NA 0.000698 0.098137 NA 0.014 NA 3.987402 1253 8 22051512 22051512 G A intronic BMP1 NA NA NA intronic ENSG00000168487 NA NA NA NA NA 8p21.3 NA NA NA NA rs142176786 0.01 0.01 0.007 0.0103834 0.0129 NA 0.0058 0.003 0.0317 0.01 NA 0.01 0.01 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859045 NA NA NA NA NA NA NA 3.9871 1253 10 104569567 104569567 C A intronic WBP1L NA NA NA intronic ENSG00000166272 NA NA NA NA NA 10q24.32 NA NA NA NA rs687541 0.01 0.01 0.006 0.00419329 0.0129 NA 0.0058 0.0008 0.0031 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254693 NA NA NA NA NA NA NA 3.9871 1253 11 116827565 116827565 A G intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA NA NA 11q23.3 NA NA NA NA rs587703 0.06 0.06 0.058 0.0686901 0.0129 0.0804 0.0418 0.1384 0.0389 0.01 0.07 0.04 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856888 NA NA NA NA NA 0.058 NA 3.9871 1253 17 73552348 73552348 C T intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs62089184 0.0046 0.0046 0.004 0.00479233 0.0129 NA 0.0086 0.003 0.001 0.01 NA 0.01 0.0041 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01382 NA NA NA NA NA NA NA 3.9871 1253 19 2247086 2247086 C T intronic SF3A2 NA NA NA intronic ENSG00000104897 NA NA NA NA NA 19p13.3 NA NA NA NA rs59357019 0.08 0.08 0.067 0.0890575 0.0129 0.1151 0.0576 0.1664 0.0583 0.01 0.13 0.06 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151461 NA NA NA NA NA 0.065 NA 3.9871 1253 19 15075281 15075281 A C intronic SLC1A6 NA NA NA intronic ENSG00000105143 NA NA NA NA NA 19p13.12 NA NA NA NA rs147579087 0.01 0.01 0.006 0.00439297 0.0129 NA 0.0101 NA 0.002 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068231 NA NA NA NA NA 0.014 NA 3.9871 1253 21 47616210 47616210 T C intronic LSS NA NA NA intronic ENSG00000160285 NA NA NA NA NA 21q22.3 NA NA NA NA rs186230840 0.0027 0.0027 NA 0.00199681 0.005 NA 0.0043 0.0008 0.001 0.0026 NA 0.01 0.002 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145307 NA NA 0.004651 0.001362 NA NA NA 3.986949 1253 17 10538146 10538146 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs150348272 0.0037 0.0037 0.005 0.00379393 0.003 NA 0.0072 0.003 0.0072 0.004 NA 0.01 0.0041 0.0051 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59207 NA NA 0.005 0.003177 NA NA NA 3.9869 1253 6 32523260 32523260 C T ncRNA_intronic HLA-DRB6 NA NA NA ncRNA_intronic ENSG00000229391 NA NA NA NA NA 6p21.32 NA NA NA NA rs34720636 NA NA 0.52 0.697883 0.6799 0.6964 0.7392 0.7405 0.6309 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.049612 NA NA NA NA NA 0.072 NA 3.9867666 1253 7 34790123 34790123 T C ncRNA_intronic NPSR1-AS1 NA NA NA ncRNA_exonic ENSG00000230356 NA NA NA NA NA 7p14.3 NA NA NA NA rs324396 0.71 0.71 0.715 0.730431 0.6799 0.5565 0.6484 0.9735 0.6912 0.68 0.56 0.7 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258557 NA NA NA NA NA 0.681 NA 3.9867666 1253 1 89420825 89420825 A C intronic CCBL2 NA NA NA intronic ENSG00000137944 NA NA NA NA NA 1p22.2 NA NA NA NA rs12095620 0.03 0.03 0.028 0.0383387 0.002 NA 0.0159 0.1354 NA 0.0026 NA 0.02 0.1 0.0107 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.58418 1.58418 NA 0.000581 0.098956 NA 0.029 NA 3.986719 1253 11 17537720 17537720 G A intronic USH1C NA NA NA intronic ENSG00000006611 NA NA NA NA NA 11p15.1 NA NA NA NA rs150028032 0.0018 0.0018 0.003 0.00159744 0.007 NA 0.0014 NA NA 0.004 NA 0.0028 NA NA 0.0063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670505 NA NA 0.006285 0.002168 NA NA NA 3.986715 1253 12 18234097 18234097 T C UTR3 RERGL NM_024730:c.*28A>G NA NA UTR3 ENSG00000111404 ENST00000229002:c.*28A>G,ENST00000538724:c.*28A>G NA NA NA NA 12p12.3 NA NA NA NA rs941047 0.06 0.06 0.046 0.0585064 0.1322 0.003 0.0735 0.0121 0.092 0.11 0.0035 0.09 0.01 0.0939 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391592 NA NA 0.120638 0.039946 NA 0.152 NA 3.9865954 1253 7 143095400 143095400 A T intronic EPHA1 NA NA NA intronic ENSG00000146904 NA NA NA NA NA 7q34 NA NA NA NA rs77324371 0.01 0.01 0.009 0.0115815 0.005 NA 0.0115 0.034 NA 0.0026 NA 0.01 0.03 0.0056 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.278879 3.278879 NA 0.003256 0.023831 NA NA NA 3.986144 1253 19 39688901 39688901 G T intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA Name=CTCF NA NA rs12610093 0.38 0.38 0.383 0.366214 0.3231 0.4196 0.3429 0.3797 0.3538 0.31 0.48 0.41 0.35 0.3574 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140372 NA NA 0.333372 0.390377 NA 0.384 NA 3.986128 1253 8 39467095 39467095 T C intronic ADAM18 NA NA NA intronic ENSG00000168619 NA NA NA NA NA 8p11.22 NA NA NA NA rs79414226 0.02 0.02 0.024 0.0183706 0.004 NA 0.0303 0.0507 NA 0.004 NA 0.04 0.06 0.0078 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198349 NA NA 0.002094 0.043804 NA 0.014 NA 3.986106 1253 1 3410229 3410229 G A intronic MEGF6 NA NA NA intronic ENSG00000162591 NA NA NA NA NA 1p36.32 NA NA NA NA rs185310228 0.01 0.01 NA 0.00499201 0.0139 NA 0.0072 NA 0.0061 0.01 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302521 NA NA NA NA NA 0.007 NA 3.9861 1253 1 174200604 174200604 T C intronic RABGAP1L NA NA NA intronic ENSG00000152061 NA NA NA NA NA 1q25.1 NA NA NA NA rs111939002 0.01 0.01 0.004 0.00379393 0.0139 NA 0.0058 NA 0.001 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373604 NA NA NA NA NA NA NA 3.9861 1253 3 52842507 52842507 C T intronic ITIH3 NA NA NA intronic ENSG00000162267 NA NA NA NA NA 3p21.1 NA NA NA NA rs138014257 0.01 0.01 0.008 0.00439297 0.0139 NA 0.0058 0.003 NA 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317255 NA NA NA NA ID=COSN229080;OCCURENCE=1(skin) 0.08 NA 3.9861 1253 4 48563715 48563715 A G intronic FRYL NA NA NA intronic ENSG00000075539 NA NA NA NA NA 4p11 NA NA NA NA rs75165298 0.01 0.01 0.01 0.00539137 0.0139 NA 0.0101 0.0038 0.001 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235117 NA NA NA NA NA 0.007 NA 3.9861 1253 5 52360658 52360658 A T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs139704993 0.02 0.02 0.015 0.0105831 0.0139 0.0238 0.0029 NA 0.0133 0.01 0.04 0.0028 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753425 NA NA NA NA NA NA NA 3.9861 1253 6 168999384 168999384 G A intronic SMOC2 NA NA NA intronic ENSG00000112562 NA NA NA NA NA 6q27 NA NA NA NA rs117915839 0.01 0.01 0.007 0.00399361 0.0139 NA 0.0086 NA NA 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752343 NA NA NA NA NA 0.007 NA 3.9861 1253 9 72055804 72055804 G A intronic APBA1 NA NA NA intronic ENSG00000107282 NA NA NA NA NA 9q21.11 NA NA NA NA rs141781087 0.01 0.01 0.006 0.00479233 0.0139 NA 0.0101 NA 0.0031 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766068 NA NA NA NA NA 0.007 NA 3.9861 1253 12 31256059 31256059 G A intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs149612726 0.0041 0.0041 0.003 0.00439297 0.0139 NA 0.0072 0.0008 0.002 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1311 NA NA NA NA NA NA NA 3.9861 1253 12 124911463 124911463 C T intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs112284309 0.01 0.01 0.006 0.00359425 0.0139 NA 0.0014 NA 0.0031 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056331 NA NA NA NA NA NA NA 3.9861 1253 16 23491345 23491345 C A intronic GGA2 NA NA NA intronic ENSG00000103365 NA NA NA NA NA 16p12.2 NA NA NA NA rs112893762 0.01 0.01 0.007 0.014377 0.0139 0.001 0.013 0.0189 0.0235 0.01 NA 0.02 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762568 NA NA NA NA NA 0.007 NA 3.9861 1253 16 23499858 23499858 C T intronic GGA2 NA NA NA intronic ENSG00000103365 NA NA NA NA NA 16p12.2 NA NA NA NA rs113348656 0.01 0.01 0.009 0.014377 0.0139 0.001 0.013 0.0189 0.0235 0.01 NA 0.02 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035609 NA NA NA NA NA 0.007 NA 3.9861 1253 17 72845848 72845848 C T intronic GRIN2C NA NA NA intronic ENSG00000161509 NA NA NA NA NA 17q25.1 NA NA NA NA rs147942219 0.01 0.01 0.009 0.00778754 0.0139 NA NA NA 0.0256 0.02 NA NA NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014472 NA NA NA NA NA 0.007 NA 3.9861 1253 18 66564393 66564393 G A intronic CCDC102B NA NA NA intronic ENSG00000150636 NA NA NA NA NA 18q22.1 NA NA NA NA rs117509554 0.02 0.02 0.02 0.0191693 0.0139 0.0665 NA 0.0023 0.0123 0.02 0.07 NA 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301743 NA NA NA NA NA 0.007 NA 3.9861 1253 18 66564751 66564751 C A intronic CCDC102B NA NA NA intronic ENSG00000150636 NA NA NA NA NA 18q22.1 NA NA NA NA rs116988359 0.02 0.02 0.018 0.01877 0.0139 0.0665 NA 0.0008 0.0123 0.02 0.07 NA 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65078 NA NA NA NA NA 0.007 NA 3.9861 1253 19 40748648 40748648 C T intronic AKT2 NA NA NA intronic ENSG00000105221 NA NA NA NA NA 19q13.2 NA NA NA NA rs35948893 0.02 0.02 0.02 0.0197684 0.0139 NA 0.0288 0.0469 0.0031 0.01 NA 0.04 0.05 NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078045 NA NA NA NA NA 0.072 NA 3.9861 1253 10 127540856 127540856 G A intronic BCCIP,DHX32 NA NA NA intronic ENSG00000089876,ENSG00000107949 NA NA NA NA NA 10q26.2 NA NA NA NA rs182403412 0.0023 0.0023 NA 0.00159744 0.003 NA 0.0043 NA 0.002 0.004 NA 0.01 NA 0.0044 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116577 NA NA 0.006628 0.000908 NA NA NA 3.985972 1253 19 9641766 9641766 A G intronic ZNF426 NA NA NA intronic ENSG00000130818 NA NA NA NA NA 19p13.2 NA NA NA NA rs8100409 0.04 0.04 0.046 0.0503195 NA NA 0.0115 0.1846 NA NA NA 0.01 0.18 0.0135 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291173 NA NA 0.000698 0.143668 NA 0.101 NA 3.985802 1253 11 4623319 4623319 C T intronic TRIM68 NA NA NA intronic ENSG00000167333 NA NA NA NA NA 11p15.4 NA NA NA NA rs2231968 0.01 0.01 0.012 0.0109824 0.008 0.001 0.0043 0.0325 NA 0.004 0.0017 NA 0.03 0.0062 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089635 NA NA NA NA NA 0.007 NA 3.9858 1253 3 127965923 127965923 G A intronic EEFSEC NA NA NA intronic ENSG00000132394 NA NA NA NA NA 3q21.3 NA NA NA NA rs149992198 0.0023 0.0023 0.002 0.00239617 0.005 NA 0.0029 0.0008 0.0041 0.01 NA NA NA 0.0047 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.502945 2.502945 NA 0.004652 0.001362 NA NA NA 3.985648 1253 1 40432897 40432897 G T intronic MFSD2A NA NA NA intronic ENSG00000168389 NA NA NA NA NA 1p34.2 NA NA NA NA rs116255627 NA NA NA 0.00379393 0.004 NA 0.0058 0.0008 0.0102 NA NA NA NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448335 NA NA 0.010371 0.001445 NA NA NA 3.985629 1253 12 50529971 50529971 A G intronic CERS5 NA NA NA ncRNA_intronic ENSG00000272368 NA NA NA NA NA 12q13.12 NA NA NA NA rs11169282 0.29 0.29 0.274 0.315495 0.3479 0.1825 0.304 0.3162 0.4264 0.34 0.19 0.3 0.31 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203124 NA NA NA NA NA 0.355 NA 3.9854333 1253 13 46942081 46942081 A G intronic KIAA0226L NA NA NA ncRNA_intronic ENSG00000241353 NA NA NA NA NA 13q14.13 NA NA NA NA rs2476664 0.47 0.47 0.446 0.451677 0.3479 0.5933 0.4121 0.5287 0.3364 0.34 0.6 0.42 0.57 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815757 NA NA NA NA NA 0.435 NA 3.9854333 1253 2 130930961 130930961 G A intronic SMPD4 NA NA NA intronic ENSG00000136699 NA NA NA NA NA 2q21.1 NA NA NA NA rs114037844 0.02 0.02 0.017 0.0239617 0.004 NA 0.0159 0.0794 NA 0.004 NA 0.02 0.06 0.0085 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148065 NA NA 0.002093 0.075806 NA 0.022 NA 3.985407 1253 19 55693081 55693081 G C UTR3 PTPRH NM_002842:c.*41C>G,NM_001161440:c.*41C>G NA NA UTR3 ENSG00000080031 ENST00000263434:c.*41C>G,ENST00000376350:c.*41C>G NA NA NA NA 19q13.42 NA NA NA NA rs8112238 0.11 0.11 0.118 0.14397 0.1143 0.1726 0.0634 0.1233 0.2301 0.11 0.15 0.06 0.11 0.1267 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945496 NA NA 0.106977 0.122333 NA 0.167 NA 3.9853564 1253 18 47506778 47506778 T C intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs61177844 0.03 0.03 0.028 0.0321486 0.002 NA 0.0144 0.1074 0.0072 0.0013 NA 0.01 0.11 0.0112 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631387 NA NA 0.001449 0.103769 NA 0.058 NA 3.985351 1253 3 146239871 146239871 C T intronic PLSCR1 NA NA NA intronic ENSG00000188313 NA NA NA NA NA 3q24 NA NA NA NA rs148327407 0.01 0.01 0.003 0.00399361 0.0089 NA 0.0159 NA NA 0.01 NA 0.03 NA 0.0032 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843717 NA NA 0.002792 0.001362 NA 0.007 NA 3.985108 1253 1 17939405 17939405 C A intronic ARHGEF10L NA NA NA intronic ENSG00000074964 NA NA NA NA NA 1p36.13 NA NA NA NA rs181145678 0.01 0.01 NA 0.0125799 0.0149 NA 0.0216 0.003 0.0297 0.01 NA 0.02 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975992 NA NA NA NA NA NA NA 3.9851 1253 12 48360895 48360895 G C intronic TMEM106C NA NA NA intronic ENSG00000134291 NA NA NA NA NA 12q13.11 NA NA NA NA rs117699587 0.01 0.01 0.01 0.00399361 0.0149 NA 0.0072 NA NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143718 NA NA NA NA NA 0.007 NA 3.9851 1253 12 102813632 102813632 C T intronic IGF1 NA NA NA intronic ENSG00000017427 NA NA NA NA NA 12q23.2 NA NA NA NA rs2072592 0.09 0.09 0.061 0.0874601 0.0149 0.2669 0.1037 NA 0.0838 0.02 0.25 0.09 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.035238 NA NA NA NA NA 0.029 NA 3.9851 1253 13 29252060 29252060 T C intronic POMP NA NA NA intronic ENSG00000132963 NA NA NA NA NA 13q12.3 NA NA NA NA rs137858324 0.01 0.01 0.003 0.00958466 0.0149 NA 0.0115 0.0008 0.0245 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577149 NA NA NA NA NA NA NA 3.9851 1253 14 24587504 24587504 A G intronic DCAF11 NA NA NA intronic ENSG00000100897 NA NA NA NA NA 14q11.2 NA NA NA NA rs2277479 0.08 0.08 0.074 0.0828674 0.0149 0.2034 0.072 0.0893 0.0276 0.01 0.21 0.06 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.361567 NA NA NA NA NA 0.029 NA 3.9851 1253 16 81295637 81295637 A G intronic BCMO1 NA NA NA intronic ENSG00000135697 NA NA NA NA NA 16q23.2 NA NA NA NA rs148977820 0.01 0.01 0.002 0.00998403 0.0149 0.0089 0.0058 NA 0.0225 0.01 0.01 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698532 NA NA NA NA NA 0.007 NA 3.9851 1253 19 12830222 12830222 A G intronic TNPO2 NA NA NA intronic ENSG00000105576 NA NA NA NA NA 19p13.2 NA NA NA NA rs80264991 0.01 0.01 0.005 0.0081869 0.0149 NA 0.0086 0.0023 0.0174 0.01 NA 0.01 0.0041 NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16615 NA NA NA NA NA 0.014 NA 3.9851 1254 12 132632723 132632723 T C intronic NOC4L NA NA NA intronic ENSG00000184967 NA NA NA NA NA 12q24.33 NA NA NA NA rs112889701 0.0032 0.0032 NA 0.00199681 0.005 NA 0.0072 NA NA 0.004 NA 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23095 NA NA 0.010057 0.002168 NA 0.007 NA 3.984943 1254 7 73118196 73118196 T C intronic STX1A NA NA NA UTR3 ENSG00000071462 ENST00000423166:c.*782T>C,ENST00000436944:c.*1092T>C NA NA NA NA 7q11.23 NA Name=TAF1 NA NA rs4363087 0.39 0.39 0.325 0.403355 0.3817 0.627 0.5144 0.0643 0.5746 0.38 0.61 0.49 0.07 0.4154 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230358 NA NA 0.384884 0.113028 NA 0.283 NA 3.9846827 1254 16 28607070 28607070 A G intronic SULT1A2 NA NA NA intronic ENSG00000197165 NA NA NA NA NA 16p11.2 NA Name=ERalpha_a NA NA rs4149406 0.25 0.25 0.202 0.233227 0.326 0.0843 0.3991 0.2254 0.184 0.34 0.09 0.33 0.22 0.3232 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448462 NA NA 0.366279 0.251479 NA 0.174 NA 3.984521 1254 11 2423820 2423820 T C intronic TSSC4 NA NA NA intronic ENSG00000184281 NA NA NA NA NA 11p15.5 NA NA NA NA rs2234277 0.02 0.02 0.03 0.0297524 0.002 NA 0.0101 0.1059 NA NA NA 0.01 0.09 0.0129 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615518 NA NA 0.000583 0.086239 NA 0.029 NA 3.984517 1254 12 50513687 50513687 C T intronic COX14 NA NA NA ncRNA_intronic ENSG00000272368 NA NA NA NA NA 12q13.12 NA NA NA NA rs7961065 0.32 0.32 0.314 0.364018 0.3489 0.1806 0.3055 0.4947 0.4335 0.34 0.19 0.3 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061668 NA NA NA NA NA 0.399 NA 3.9844333 1254 19 41356123 41356123 G A intronic CYP2A6 NA NA NA intronic ENSG00000255974,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs8192722 0.03 0.03 0.035 0.0457268 NA NA 0.013 0.1664 NA 0.0013 NA 0.02 0.13 0.0149 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671226 NA NA 0.000698 0.143895 NA 0.043 NA 3.984402 1254 14 90442197 90442197 A G intronic TDP1 NA NA NA intronic ENSG00000042088 NA NA NA NA NA 14q32.11 NA NA NA NA rs35017384 0.03 0.03 0.029 0.0399361 0.002 NA 0.0159 0.1415 NA NA NA 0.02 0.11 0.0128 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55054 NA NA 0.000814 0.129823 NA 0.014 NA 3.984386 1254 3 136677098 136677098 A G intronic IL20RB NA NA NA intronic ENSG00000174564 NA NA NA NA NA 3q22.3 NA NA NA NA rs187532597 0.0037 0.0037 NA 0.00239617 0.0099 NA 0.0029 NA NA 0.01 NA 0.0028 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805817 NA NA 0.005971 0.001445 NA NA NA 3.984129 1254 1 54483636 54483636 C T intronic LDLRAD1 NA NA NA intronic ENSG00000203985 NA NA NA NA NA 1p32.3 NA NA NA NA rs74085128 0.09 0.09 0.097 0.0976438 0.0159 0.0427 0.0187 0.2973 0.0245 0.02 0.05 0.02 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739133 NA NA NA NA NA 0.123 NA 3.9841 1254 7 87133863 87133863 G A intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs28364273 0.01 0.01 0.005 0.00499201 0.0159 0.001 0.0072 NA 0.0031 0.02 0.0017 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246366 NA NA NA NA NA NA NA 3.9841 1254 9 101814590 101814590 C T intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA NA NA rs117494490 0.01 0.01 0.005 0.00399361 0.0159 NA 0.0058 NA NA 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444848 NA NA NA NA NA 0.007 NA 3.9841 1254 11 6459797 6459797 T C intronic HPX NA NA NA intronic ENSG00000110169 NA NA NA NA NA 11p15.4 NA NA NA NA rs17242778 0.01 0.01 0.004 0.00519169 0.0159 0.001 0.0115 0.0008 NA 0.01 NA 0.01 NA NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195628 NA NA NA NA NA NA NA 3.9841 1254 16 88061386 88061386 G A intronic BANP NA NA NA intronic ENSG00000172530 NA NA NA NA NA 16q24.2 NA NA NA NA rs145769078 0.01 0.01 0.009 0.00758786 0.0159 NA 0.0029 NA 0.0204 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552724 NA NA NA NA NA NA NA 3.9841 1254 5 224684 224684 G A intronic SDHA NA NA NA intronic ENSG00000073578 NA NA NA NA NA 5p15.33 NA NA NA NA rs201953257 0.0032 0.0032 NA 0.00439297 0.006 NA 0.0014 0.0098 0.002 0.01 NA NA 0.01 0.0043 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910841 NA NA 0.005702 0.01045 NA 0.007 NA 3.983998 1254 19 51470618 51470618 G A intronic KLK6 NA NA NA intronic ENSG00000167755 NA NA NA NA NA 19q13.41 NA NA NA NA rs140254627 0.0046 0.0046 0.003 0.00179712 0.0089 NA NA NA NA 0.01 NA 0.0028 NA 0.0028 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302793 NA NA 0.004419 0.001135 NA NA NA 3.983881 1254 19 41355919 41355919 A C intronic CYP2A6 NA NA NA intronic ENSG00000255974,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs28399438 0.04 0.04 0.029 0.0465256 0.001 0.002 0.013 0.1664 0.001 0.0026 NA 0.02 0.13 0.0146 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613842 NA NA 0.000698 0.14276 NA 0.043 NA 3.983702 1254 5 35857177 35857177 G C intronic IL7R NA NA NA intronic ENSG00000168685 NA NA NA NA NA 5p13.2 NA Name=BATF,EBF,JunD Name=92 NA rs1353252 0.65 0.65 0.655 0.647364 0.7018 0.4236 0.5562 0.9319 0.502 0.71 0.4 0.59 0.9 0.6395 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087432 NA NA 0.675116 0.874943 ID=COSN167434;OCCURENCE=1(large_intestine) 0.696 NA 3.983584 1254 13 70281749 70281749 A C intronic KLHL1 NA NA NA intronic ENSG00000150361 NA NA NA NA NA 13q21.33 NA NA NA NA rs118148908 0.0037 0.0037 0.001 0.00199681 0.005 NA 0.0058 NA 0.001 0.01 NA 0.01 NA 0.0048 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.516449 1.516449 NA 0.006628 0.001589 NA 0.007 NA 3.983572 1254 14 90456031 90456031 C T intronic TDP1 NA NA NA intronic ENSG00000042088 NA NA NA NA NA 14q32.11 NA NA NA NA rs35218343 0.03 0.03 0.035 0.0411342 0.002 0.0099 0.0159 0.1384 NA NA 0.01 0.02 0.11 0.0142 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074962 NA NA 0.000465 0.127553 NA 0.014 NA 3.983335 1254 18 29038577 29038577 C A intronic DSG3 NA NA NA intronic ENSG00000134757 NA NA NA NA NA 18q12.1 NA NA NA NA rs144604026 0.0041 0.0041 0.002 0.00319489 0.006 NA 0.0115 0.0008 0.001 0.0026 NA 0.02 0.002 0.0039 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183881 NA NA 0.00686 0.001135 NA NA NA 3.98324 1254 1 77672452 77672452 T C intronic PIGK NA NA NA intronic ENSG00000142892 NA NA NA NA NA 1p31.1 NA NA NA NA rs201620183 0.0018 0.0018 NA 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0042 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699819 NA NA 0.007676 0.001362 NA NA NA 3.983124 1254 20 31762003 31762003 A G intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA NA NA NA rs79337613 0.03 0.03 0.034 0.0279553 0.005 NA 0.0058 0.0991 NA 0.01 NA 0.01 0.11 0.0099 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836231 NA NA 0.001977 0.090785 NA 0.029 NA 3.983123 1254 3 58063123 58063123 G A intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA NA NA NA rs115199080 0.01 0.01 0.009 0.00539137 0.0169 NA 0.0086 NA 0.0041 0.02 0.0017 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446772 NA NA NA NA NA NA NA 3.9831 1254 5 56170758 56170758 G A intronic MAP3K1 NA NA NA intronic ENSG00000095015 NA NA NA NA NA 5q11.2 NA NA NA NA rs149459371 0.01 0.01 0.004 0.00738818 0.0169 NA 0.0216 0.003 0.001 0.02 NA 0.02 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496452 NA NA NA NA NA 0.007 NA 3.9831 1254 9 33926767 33926767 G A intronic UBAP2 NA NA NA intronic ENSG00000137073 NA NA NA NA NA 9p13.3 NA NA NA NA rs12551409 0.01 0.01 0.003 0.013778 0.0169 0.001 0.0058 0.0015 0.046 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621109 NA NA NA NA NA NA NA 3.9831 1254 10 52445346 52445346 G A intergenic SGMS1,ASAH2B dist=61609;dist=54342 NA NA ncRNA_intronic ENSG00000232706 NA NA NA NA NA 10q11.23 NA NA NA NA rs71508052 0.01 0.01 NA 0.00559105 0.0169 NA 0.0072 0.0008 0.0051 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822423 NA NA NA NA NA NA NA 3.9831 1254 16 75665838 75665838 T C intronic KARS NA NA NA intronic ENSG00000065427 NA NA NA NA NA 16q23.1 NA NA NA NA rs148298278 0.01 0.01 0.01 0.0103834 0.0169 NA 0.0187 0.0015 0.0204 0.02 NA 0.02 0.002 NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557047 NA NA NA NA NA 0.014 NA 3.9831 1254 16 89651817 89651817 C G intronic CPNE7 NA NA NA intronic ENSG00000178773 NA NA NA NA NA 16q24.3 NA NA NA NA rs137959554 0.01 0.01 NA 0.0195687 0.0169 0.001 0.0173 0.0015 0.0675 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178124 NA NA NA NA NA NA NA 3.9831 1254 18 8413099 8413099 C T intergenic PTPRM,RAB12 dist=6240;dist=196344 NA NA ncRNA_exonic ENSG00000266613 NA NA NA NA NA 18p11.23 NA NA NA NA rs144586887 0.01 0.01 0.007 0.00838658 0.0169 NA 0.0202 NA 0.0112 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632091 NA NA NA NA NA 0.036 NA 3.9831 1254 19 18709519 18709519 C T intronic CRLF1 NA NA NA intronic ENSG00000006016 NA NA NA NA NA 19p13.11 NA NA NA NA rs142312755 0.01 0.01 0.002 0.00419329 0.0169 NA 0.0043 0.0008 NA 0.02 NA NA NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640266 NA NA NA NA NA NA NA 3.9831 1254 20 31762043 31762043 G A intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA NA NA NA rs79185071 0.03 0.03 0.034 0.0279553 0.005 NA 0.0058 0.0991 NA 0.01 NA 0.01 0.11 0.0099 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706436 NA NA 0.002093 0.090785 NA 0.029 NA 3.983007 1254 8 125334267 125334267 T C intronic TMEM65 NA NA NA intronic ENSG00000164983 NA NA NA NA NA 8q24.13 NA NA NA NA rs185398992 0.0046 0.0046 NA 0.00359425 0.0089 NA 0.0014 0.0008 0.0072 0.01 NA 0.0028 0.002 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331935 NA NA 0.008171 0 NA 0.007 NA 3.982929 1254 6 44329777 44329777 C G intronic SPATS1 NA NA NA intronic ENSG00000249481,ENSG00000272442 NA NA NA NA NA 6p21.1 NA NA NA NA rs114150800 0.01 0.01 0.007 0.0107827 0.007 0.002 0.0115 0.0083 0.0266 0.01 0.0017 0.01 0.01 0.0067 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248828 NA NA 0.003488 0.007036 NA 0.014 NA 3.982812 1254 19 47883264 47883264 G A intronic DHX34 NA NA NA intronic ENSG00000134815 NA NA NA NA NA 19q13.32 NA NA NA NA rs73065330 0.0032 0.0032 0.003 0.00179712 0.006 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0048 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555273 NA NA 0.006395 0.001816 NA 0.058 NA 3.982805 1254 5 108713982 108713982 T C exonic PJA2 NA synonymous SNV PJA2:NM_014819:exon4:c.A1206G:p.A402A exonic ENSG00000198961 NA synonymous SNV ENSG00000198961:ENST00000361557:exon3:c.A1206G:p.A402A,ENSG00000198961:ENST00000361189:exon4:c.A1206G:p.A402A NA NA 5q21.3 NA NA NA NA rs12523186 0.32 0.32 0.289 0.32508 0.5915 0.0565 0.4726 0.0643 0.5757 0.6 0.04 0.47 0.08 0.4998 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523634 NA NA 0.592674 0.156676 NA 0.377 NA 3.9826926 1254 16 30347731 30347731 A G intergenic LOC595101,CD2BP2 dist=1036;dist=14356 NA NA intergenic ENSG00000183604,ENSG00000169217 dist=1036;dist=14356 NA NA NA NA 16p11.2 NA Name=TCF4,HEY1 NA NA rs8051096 0.33 0.33 0.34 0.352037 0.3509 0.0823 0.2738 0.6362 0.3027 0.33 0.08 0.29 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493451 NA NA NA NA NA 0.435 NA 3.9824334 1254 19 39688815 39688815 C T intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA Name=CTCF,Rad21,AP-2gamma,CTCF_(SC-5916),AP-2alpha NA NA rs12610064 0.38 0.38 0.374 0.369209 0.326 0.4206 0.3444 0.3896 0.3507 0.31 0.48 0.41 0.36 0.3581 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361748 NA NA 0.333488 0.400363 NA 0.384 NA 3.982412 1254 19 55014088 55014088 C T UTR5 LAIR2 NM_002288:c.-47C>T,NM_021270:c.-47C>T NA NA UTR5 ENSG00000167618 ENST00000301202:c.-47C>T NA NA NA NA 19q13.42 NA NA NA NA rs2042287 0.14 0.14 0.113 0.152756 0.1044 0.12 0.1974 0.1392 0.2229 0.11 0.13 0.2 0.16 0.1376 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249715 NA NA 0.10907 0.143441 NA 0.065 NA 3.9822634 1254 1 13881514 13881514 G A intergenic LRRC38,PDPN dist=41272;dist=28738 NA NA ncRNA_exonic ENSG00000215909 NA NA NA NA NA 1p36.21 NA NA NA NA rs600760 0.07 0.07 0.067 0.0752796 0.0179 0.1052 0.0303 0.1142 0.0828 0.01 0.12 0.02 0.11 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194625 NA NA NA NA NA 0.058 NA 3.9821 1254 1 76397517 76397517 C T intronic ASB17 NA NA NA intronic ENSG00000154007 NA NA NA NA NA 1p31.1 NA NA NA NA rs17097710 0.05 0.05 0.041 0.0533147 0.0179 NA 0.0403 0.1634 0.0051 0.01 NA 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491822 NA NA NA NA NA 0.029 NA 3.9821 1254 2 160076076 160076076 G C intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA NA NA rs190857414 0.01 0.01 NA 0.00399361 0.0179 NA 0.0014 NA 0.001 0.02 NA NA NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401501 NA NA NA NA NA NA NA 3.9821 1254 4 7533191 7533191 C T intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs73214626 0.02 0.02 0.022 0.0221645 0.0179 NA 0.0072 0.0635 0.0041 0.02 NA 0.01 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324361 NA NA NA NA NA 0.014 NA 3.9821 1254 5 17275270 17275270 A C intronic BASP1 NA NA NA intronic ENSG00000176788 NA NA NA NA NA 5p15.1 NA NA NA NA rs145961515 0.01 0.01 0.005 0.00459265 0.0179 NA 0.0043 NA 0.002 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288769 NA NA NA NA NA NA NA 3.9821 1254 5 178989472 178989472 G A intronic RUFY1 NA NA NA intronic ENSG00000176783 NA NA NA NA NA 5q35.3 NA NA NA NA rs192390258 0.01 0.01 NA 0.00798722 0.0179 NA 0.0144 NA 0.0123 0.01 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270766 NA NA NA NA NA NA NA 3.9821 1254 11 124955775 124955775 G A intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs34947287 0.01 0.01 0.006 0.00579073 0.0179 NA 0.0101 NA 0.0041 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321259 NA NA NA NA NA NA NA 3.9821 1254 8 75926195 75926195 T G intronic CRISPLD1 NA NA NA intronic ENSG00000121005 NA NA NA NA NA 8q21.11 NA NA NA NA rs77552013 0.04 0.04 0.05 0.0465256 0.001 NA 0.0159 0.1657 0.002 NA NA 0.02 0.18 0.0147 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.323073 3.323073 NA 0.00221 0.14276 NA 0.058 NA 3.98209 1254 2 231106210 231106210 T C intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs75177776 0.0027 0.0027 0.002 0.00259585 0.0099 NA 0.0029 0.0008 NA 0.01 NA 0.0028 NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032656 NA NA 0.004723 0.0013 NA 0.051 NA 3.981777 1254 14 24776457 24776457 C G intronic CIDEB NA NA NA UTR3 ENSG00000196943 ENST00000267425:c.*2156C>G NA NA NA NA 14q12 NA NA NA NA rs11158634 0.15 0.15 0.131 0.15016 0.1849 0.004 0.3473 0.1573 0.1155 0.2 0.01 0.3 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475383 NA NA NA NA NA 0.13 NA 3.9817667 1254 10 105812932 105812932 G A intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA NA NA NA rs72821450 0.0027 0.0027 0.003 0.00199681 0.006 0.001 NA NA 0.0031 0.01 0.0017 NA NA 0.0054 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006569 NA NA 0.007093 0.001362 NA 0.043 NA 3.981507 1254 6 31083729 31083729 A C UTR3 CDSN NM_001264:c.*73T>G NA NA UTR3 ENSG00000204539 ENST00000376288:c.*73T>G NA NA NA NA 6p21.33 NA NA NA NA rs3095297 0.46 0.46 0.459 0.451078 0.3519 0.506 0.4035 0.6172 0.3057 0.35 0.52 0.4 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754592 NA NA NA NA NA 0.391 NA 3.9814334 1254 8 6357307 6357307 T C UTR3 ANGPT2 NM_001147:c.*3315A>G,NM_001118887:c.*3315A>G,NM_001118888:c.*3315A>G NA NA UTR3 ENSG00000091879 ENST00000325203:c.*3315A>G,ENST00000415216:c.*3315A>G NA NA NA NA 8p23.1 NA NA NA NA rs2916715 0.19 0.19 0.161 0.171925 0.3519 0.0754 0.2161 0.0151 0.2669 0.34 0.07 0.27 0.02 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.834715 1.834715 NA NA NA NA 0.174 NA 3.9814334 1254 7 38356849 38356849 C T intergenic TARP,LOC100506776 dist=43601;dist=24329 NA NA exonic ENSG00000211695 NA synonymous SNV ENSG00000211695:ENST00000444775:exon2:c.G135A:p.V45V NA NA 7p14.1 NA NA NA NA rs56794613 0.19 0.19 0.188 0.186302 0.166 0.3333 0.1196 0.0877 0.2362 0.17 0.33 0.14 0.1 0.1816 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.442651 1.442651 NA 0.171191 0.084926 NA 0.217 NA 3.981209 1254 1 36029258 36029258 A G intronic NCDN NA NA NA intronic ENSG00000020129 NA NA NA NA NA 1p34.3 NA NA NA NA rs75396401 0.06 0.06 0.059 0.0852636 0.0189 0.0972 0.0159 0.1528 0.0992 0.02 0.08 0.02 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26241 1.26241 NA NA NA NA 0.072 NA 3.9811 1254 6 35211990 35211990 T G intronic SCUBE3 NA NA NA intronic ENSG00000146197 NA NA NA NA NA 6p21.31 NA NA NA NA rs58925593 0.11 0.11 0.098 0.113419 0.0189 0.3274 0.0965 0.0416 0.0992 0.03 0.31 0.08 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095898 NA NA NA NA NA 0.051 NA 3.9811 1254 17 36997696 36997696 T G upstream C17orf98 NA NA NA UTR5 ENSG00000214556 ENST00000398575:c.-54A>C NA NA NA NA 17q12 NA NA NA NA rs141665212 0.01 0.01 0.004 0.00678914 0.0189 NA 0.0101 0.0008 0.0072 0.01 NA 0.01 0.002 NA 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671046 NA NA NA NA NA NA NA 3.9811 1254 18 5423324 5423324 C T intronic EPB41L3 NA NA NA intronic ENSG00000082397 NA NA NA NA NA 18p11.31 NA NA NA NA rs59407154 0.05 0.05 NA 0.0591054 0.0189 NA 0.0274 0.1589 0.0491 0.02 NA 0.04 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919706 NA NA NA NA NA 0.08 NA 3.9811 1254 18 47516936 47516936 C G intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs7234247 0.05 0.05 0.061 0.0613019 NA NA 0.0187 0.2216 0.001 NA NA 0.02 0.21 0.0181 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894754 NA NA 0.000962 0.187813 NA 0.094 NA 3.980938 1254 2 71801297 71801297 G A intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs72902605 0.05 0.05 0.034 0.0539137 0.002 NA 0.0216 0.1914 NA NA NA 0.02 0.19 0.016 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675582 NA NA 0.001865 0.153636 NA 0.058 NA 3.980135 1254 2 49247151 49247151 C T intronic FSHR NA NA NA intronic ENSG00000170820 NA NA NA NA NA 2p16.3 NA NA NA NA rs78784563 0.01 0.01 0.009 0.00579073 0.0199 NA 0.013 NA NA 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332396 NA NA NA NA NA NA NA 3.9801 1254 2 119726678 119726678 G A intronic MARCO NA NA NA intronic ENSG00000019169 NA NA NA NA NA 2q14.2 NA NA NA NA rs13004924 0.01 0.01 0.014 0.00559105 0.0199 NA 0.0072 0.0008 0.002 0.02 NA 0.01 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093895 NA NA NA NA NA NA NA 3.9801 1254 10 55913121 55913121 C T intronic PCDH15 NA NA NA intronic ENSG00000150275 NA NA NA NA NA 10q21.1 NA NA NA NA rs41274632 0.07 0.07 0.067 0.101438 0.0199 0.0099 0.0389 0.2284 0.1524 0.02 0.01 0.03 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676958 NA NA NA NA NA 0.065 NA 3.9801 1254 14 90437743 90437743 T C intronic TDP1 NA NA NA intronic ENSG00000042088 NA NA NA NA NA 14q32.11 NA NA NA NA rs11848062 0.09 0.09 0.097 0.10024 0.0199 0.0079 0.0447 0.3132 0.0297 0.02 0.01 0.05 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992493 NA NA NA NA NA 0.051 NA 3.9801 1254 20 61463501 61463501 T C intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA Name=FOXA2_(SC-6554) NA NA rs741758 0.31 0.31 0.299 0.310503 0.332 0.1161 0.281 0.4917 0.2648 0.34 0.14 0.31 0.46 0.3293 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792942 NA NA 0.358804 0.45438 NA 0.348 NA 3.979896 1254 2 114035923 114035923 A G intronic PAX8 NA NA NA intronic ENSG00000125618 NA NA NA NA NA 2q13 NA Name=SUZ12 NA NA rs1867763 0.32 0.32 0.338 0.345647 0.3549 0.129 0.3674 0.5136 0.317 0.35 0.13 0.38 0.47 0.3342 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981313 NA NA 0.331144 0.478022 NA 0.355 NA 3.979756 1254 1 159803002 159803002 G A intronic SLAMF8 NA NA NA intronic ENSG00000158714 NA NA NA NA NA 1q23.2 NA NA NA NA rs10157127 0.05 0.05 0.049 0.0603035 0.001 NA 0.0159 0.2186 0.001 NA NA 0.01 0.2 0.018 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553733 NA NA 0.001395 0.178847 NA 0.029 NA 3.979605 1254 19 7809116 7809116 C G intronic CD209 NA NA NA intronic ENSG00000090659 NA NA NA NA NA 19p13.2 NA NA NA NA rs57668221 0.03 0.03 0.026 0.0359425 0.003 NA 0.0101 0.1286 NA NA NA 0.01 0.1 0.0138 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597027 NA NA 0.003721 0.110758 NA 0.058 NA 3.979479 1254 19 22379587 22379587 G T UTR5 ZNF676 NM_001001411:c.-152C>A NA NA UTR5 ENSG00000196109 ENST00000397121:c.-152C>A NA NA NA NA 19p12 NA NA NA NA rs2360001 0.44 0.44 0.416 0.466254 0.3539 0.3393 0.3847 0.7126 0.4376 0.36 0.32 0.37 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554205 NA NA NA NA NA 0.442 NA 3.9794334 1254 1 36096869 36096869 A C intronic PSMB2 NA NA NA intronic ENSG00000126067 NA NA NA NA NA 1p34.3 NA NA NA NA rs59405996 0.0041 0.0041 0.002 0.00239617 0.0099 NA 0.0029 NA NA 0.01 NA 0.0028 NA 0.0037 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630147 NA NA 0.006977 0.001362 NA NA NA 3.979423 1254 1 12342681 12342681 G A intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs12565969 0.06 0.06 0.043 0.0786741 0.0209 0.0198 0.1282 0.1452 0.0736 0.03 0.01 0.11 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177356 NA NA NA NA NA 0.065 NA 3.9791 1254 3 132207368 132207368 T C intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs10512859 0.04 0.04 0.047 0.0541134 0.0209 NA 0.0216 0.1747 0.0041 0.02 NA 0.03 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320821 NA NA NA NA NA 0.058 NA 3.9791 1254 4 9706455 9706455 G A intergenic MIR548I2,DRD5 dist=148518;dist=76803 NA NA ncRNA_intronic ENSG00000251087 NA NA NA NA NA 4p16.1 NA NA NA NA rs12507065 0.02 0.02 0.017 0.0221645 0.0209 NA 0.0231 0.0477 0.0112 0.02 NA 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221043 NA NA NA NA NA 0.022 NA 3.9791 1254 5 64913841 64913841 T C intronic TRIM23 NA NA NA intronic ENSG00000113595 NA NA NA NA NA 5q12.3 NA NA NA NA rs11952500 0.06 0.06 0.053 0.0788738 0.0209 0.0893 0.0418 0.1104 0.1115 0.02 0.07 0.04 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94494 NA NA NA NA NA 0.043 NA 3.9791 1254 11 45924852 45924852 C G intronic MAPK8IP1 NA NA NA intronic ENSG00000121653 NA NA NA NA NA 11p11.2 NA NA NA NA rs61882478 0.01 0.01 0.004 0.00579073 0.0209 NA 0.0043 0.0023 0.002 0.03 NA 0.0028 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54373 NA NA NA NA NA NA NA 3.9791 1254 11 116744447 116744447 T C intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA NA NA 11q23.3 NA NA NA NA rs1263160 0.07 0.07 0.064 0.0772764 0.0209 0.0813 0.0548 0.1581 0.0378 0.02 0.08 0.05 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342074 NA NA NA NA NA 0.08 NA 3.9791 1254 17 40140693 40140693 C A intronic DNAJC7 NA NA NA intronic ENSG00000168259 NA NA NA NA NA 17q21.2 NA NA NA NA rs117138610 0.01 0.01 0.009 0.0109824 0.0209 NA 0.013 0.003 0.0215 0.02 NA 0.01 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.224065 3.224065 NA NA NA NA 0.007 NA 3.9791 1254 15 78789676 78789676 T C intronic IREB2 NA NA NA exonic ENSG00000136381 NA unknown UNKNOWN NA NA 15q25.1 NA NA NA NA rs2292116 0.16 0.16 0.165 0.148962 0.1819 0.1667 0.1052 0.1256 0.1595 0.18 0.15 0.12 0.16 0.1716 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.952582 1.952582 NA 0.167445 0.146358 NA 0.123 NA 3.979055 1254 1 110168888 110168888 C G intronic AMPD2 NA NA NA intronic ENSG00000116337 NA NA NA NA NA 1p13.3 NA Name=CTCFL_(SC-98982),CTCF Name=7 NA rs493972 0.78 0.78 0.765 0.804513 0.662 0.9802 0.7695 0.733 0.8916 0.65 0.99 0.75 0.76 0.7248 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315273 NA NA 0.634186 0.751248 NA 0.768 NA 3.979014 1254 7 141952023 141952023 G A UTR3 PRSS58 NM_001001317:c.*18C>T NA NA UTR3 ENSG00000258223 ENST00000547058:c.*18C>T,ENST00000552471:c.*18C>T NA NA NA NA 7q34 NA NA NA NA rs1052408 0.18 0.18 0.174 0.20008 0.1034 0.1419 0.2565 0.3374 0.1339 0.09 0.14 0.26 0.31 0.1505 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128313 NA NA 0.100698 0.330685 NA 0.254 NA 3.9787354 1254 12 101684060 101684060 A C intronic UTP20 NA NA NA intronic ENSG00000120800 NA NA NA NA NA 12q23.2 NA NA NA NA rs111551110 0.0023 0.0023 0.003 0.00479233 0.007 NA 0.0014 NA 0.0164 0.004 NA 0.0028 0.002 0.0071 0.0072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16069 NA NA 0.007209 0.001362 NA NA NA 3.978691 1254 6 166889281 166889281 T A intronic RPS6KA2 NA NA NA exonic ENSG00000071242 NA synonymous SNV ENSG00000071242:ENST00000366863:exon11:c.A492T:p.L164L NA NA 6q27 NA NA NA NA rs4373344 0.42 0.42 0.445 0.451278 0.2614 0.5278 0.2968 0.6498 0.409 0.25 0.52 0.31 0.66 0.3315 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520035 NA NA 0.26218 0.548516 NA 0.493 NA 3.9782533 1254 19 7122799 7122799 C T intronic INSR NA NA NA intronic ENSG00000171105 NA NA NA NA NA 19p13.2 NA NA NA NA rs41300628 0.0027 0.0027 NA 0.00219649 0.006 0.002 0.0014 0.0008 0.001 0.01 NA NA NA 0.0067 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179947 NA NA 0.00907 0.001816 NA 0.007 NA 3.97823 1254 9 140508258 140508258 A G intronic ARRDC1 NA NA NA intronic ENSG00000197070 NA NA NA NA NA 9q34.3 NA NA NA NA rs11137151 0.04 0.04 0.049 0.0467252 0.005 NA 0.013 0.1664 NA 0.0013 NA 0.01 0.15 0.0145 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.423583 NA NA 0.002326 0.135497 NA 0.072 NA 3.978174 1254 19 3653525 3653525 C T exonic PIP5K1C NA synonymous SNV PIP5K1C:NM_001195733:exon7:c.G684A:p.S228S,PIP5K1C:NM_012398:exon7:c.G684A:p.S228S exonic ENSG00000186111 NA synonymous SNV ENSG00000186111:ENST00000335312:exon7:c.G684A:p.S228S,ENSG00000186111:ENST00000537021:exon7:c.G684A:p.S228S,ENSG00000186111:ENST00000539785:exon7:c.G684A:p.S228S,ENSG00000186111:ENST00000589578:exon7:c.G684A:p.S228S NA NA 19p13.3 NA NA NA NA rs2074957 0.58 0.58 0.553 0.542931 0.5636 0.6865 0.6513 0.4463 0.4274 0.55 0.7 0.64 0.45 0.5603 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60525 NA NA 0.564651 0.460735 NA 0.514 NA 3.9781156 1254 1 183675576 183675576 C T intronic RGL1 NA NA NA intronic ENSG00000143344 NA NA NA NA NA 1q25.3 NA NA NA NA rs34232349 0.01 0.01 0.008 0.00978435 0.0219 NA 0.013 0.0008 0.0174 0.02 NA 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957454 NA NA NA NA NA 0.007 NA 3.9781 1254 3 13543529 13543529 C T intronic HDAC11 NA NA NA intronic ENSG00000163517 NA NA NA NA NA 3p25.1 NA NA NA NA rs73815731 0.03 0.03 0.018 0.019369 0.0219 0.001 0.0101 0.0484 0.0031 0.02 NA 0.02 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333285 NA NA NA NA NA 0.029 NA 3.9781 1254 7 32511199 32511199 G A intergenic LOC100130673,LSM5 dist=13093;dist=13746 NA NA ncRNA_exonic ENSG00000226421 NA NA NA NA NA 7p14.3 NA NA NA NA rs139336771 0.01 0.01 0.009 0.00658946 0.0219 NA 0.0101 NA 0.0041 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.386754 NA NA NA NA NA NA NA 3.9781 1254 11 24750572 24750572 T A intronic LUZP2 NA NA NA intronic ENSG00000187398 NA NA NA NA NA 11p14.3 NA NA NA NA rs72884424 0.01 0.01 0.012 0.0091853 0.0219 NA 0.0187 0.0038 0.0061 0.02 NA 0.02 0.01 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372515 NA NA NA NA NA 0.051 NA 3.9781 1254 16 7726988 7726988 C G intronic RBFOX1 NA NA NA intronic ENSG00000078328 NA NA NA NA NA 16p13.3 NA NA NA NA rs190838972 0.01 0.01 NA 0.00559105 0.0219 NA 0.0029 0.0023 0.001 0.02 NA NA 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389671 NA NA NA NA NA NA NA 3.9781 1254 16 58756265 58756265 A C intronic GOT2 NA NA NA intronic ENSG00000125166 NA NA NA NA NA 16q21 NA NA NA NA rs35298154 0.01 0.01 0.008 0.00499201 0.0219 NA 0.0014 0.0008 0.001 0.02 NA 0.0028 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.226919 3.226919 NA NA NA NA 0.007 NA 3.9781 1254 18 44593607 44593607 C T intronic KATNAL2 NA NA NA intronic ENSG00000167216 NA NA NA NA NA 18q21.1 NA NA NA NA rs56272937 0.01 0.01 0.007 0.00858626 0.0219 0.006 0.0115 0.0008 0.0061 0.02 0.01 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372909 1.372909 NA NA NA NA 0.029 NA 3.9781 1254 19 8530073 8530073 T C intronic HNRNPM NA NA NA intronic ENSG00000099783 NA NA NA NA NA 19p13.2 NA NA NA NA rs76325274 0.05 0.05 0.058 0.0519169 0.0219 NA 0.0346 0.1604 0.002 0.02 NA 0.02 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759689 NA NA NA NA NA 0.087 NA 3.9781 1254 19 10112432 10112432 T G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs8100235 0.05 0.05 0.054 0.0746805 NA NA 0.0231 0.2708 NA NA NA 0.01 0.23 0.0211 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665033 NA NA 0.00093 0.231956 NA 0.072 NA 3.97797 1254 2 207172627 207172627 A G exonic ZDBF2 NA synonymous SNV ZDBF2:NM_020923:exon5:c.A3375G:p.Q1125Q exonic ENSG00000204186 NA synonymous SNV ENSG00000204186:ENST00000374423:exon5:c.A3375G:p.Q1125Q NA NA 2q33.3 NA NA NA NA rs7582864 0.47 0.47 0.465 0.457867 0.5636 0.3571 0.6066 0.326 0.5256 0.57 0.36 0.58 0.37 0.5294 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603802 NA NA 0.595838 0.39545 ID=COSM442176,COSM442177;OCCURENCE=1(breast) 0.435 NA 3.9778286 1254 2 133636367 133636367 A G intronic NCKAP5 NA NA NA intronic ENSG00000176771 NA NA NA NA NA 2q21.2 NA NA NA NA rs74378836 0.01 0.01 0.01 0.00998403 0.0129 NA 0.0101 0.0227 NA 0.01 NA 0.01 0.02 NA 0.026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772081 NA NA 0.009428 0.026012 NA 0.007 NA 3.977672 1254 19 8045944 8045944 C T intronic ELAVL1 NA NA NA intronic ENSG00000066044 NA NA NA NA NA 19p13.2 NA NA NA NA rs74333296 0.01 0.01 0.01 0.00579073 0.005 0.0218 NA 0.0008 0.001 0.01 0.03 NA 0.002 0.0068 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339533 NA NA 0.010581 0.003631 NA NA NA 3.977619 1254 2 113090047 113090047 T C exonic ZC3H6 NA synonymous SNV ZC3H6:NM_198581:exon12:c.T3552C:p.T1184T exonic ENSG00000188177 NA synonymous SNV ENSG00000188177:ENST00000343936:exon12:c.T3552C:p.T1184T,ENSG00000188177:ENST00000409871:exon12:c.T3552C:p.T1184T NA NA 2q13 NA NA NA NA rs4578863 0.71 0.71 0.709 0.724042 0.5477 0.7421 0.6455 0.966 0.6155 0.55 0.78 0.59 0.97 0.598 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254336 NA NA 0.543774 0.895111 NA 0.703 NA 3.9771926 1254 10 124340557 124340557 T C intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs12764545 NA NA 0.037 0.190096 0.0229 0.2113 0.1167 0.3298 0.2035 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585002 NA NA NA NA NA 0.022 NA 3.9771 1254 11 292805 292805 G A intronic ATHL1 NA NA NA intronic ENSG00000142102 NA NA NA NA NA 11p15.5 NA NA NA NA rs11246056 0.14 0.14 0.111 0.138179 0.0229 0.2808 0.1873 0.1309 0.0849 0.02 0.31 0.14 0.1 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474877 NA NA NA NA NA 0.043 NA 3.9771 1254 16 69942527 69942527 G A intronic WWP2 NA NA NA intronic ENSG00000198373 NA NA NA NA NA 16q22.1 NA NA NA NA rs118165329 0.01 0.01 0.007 0.0131789 0.0229 NA 0.0115 0.0023 0.0327 0.02 NA 0.01 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243707 NA NA NA NA NA 0.014 NA 3.9771 1254 16 70818557 70818557 A G intronic VAC14 NA NA NA intronic ENSG00000103043 NA NA NA NA NA 16q22.2 NA NA NA NA rs72792880 0.01 0.01 0.008 0.00698882 0.0229 NA 0.0101 0.0015 0.0031 0.02 NA 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204461 NA NA NA NA NA 0.051 NA 3.9771 1254 17 55190092 55190092 C T intronic AKAP1 NA NA NA intronic ENSG00000121057 NA NA NA NA NA 17q22 NA NA NA NA rs9890757 0.08 0.08 0.09 0.0872604 0.0229 0.006 0.0303 0.2738 0.0256 0.02 0.01 0.02 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697613 NA NA NA NA NA 0.072 NA 3.9771 1254 22 46746447 46746447 C T intronic TRMU NA NA NA intronic ENSG00000100416 NA NA NA NA NA 22q13.31 NA NA NA NA rs114042113 0.01 0.01 0.012 0.0135783 0.0229 NA 0.0202 0.0136 0.0133 0.01 NA 0.03 0.02 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271101 NA NA NA NA NA 0.014 NA 3.9771 1254 22 46747802 46747802 C T intronic TRMU NA NA NA intronic ENSG00000100416 NA NA NA NA NA 22q13.31 NA NA NA NA rs142795512 0.01 0.01 0.005 0.0139776 0.0229 NA 0.0202 0.0136 0.0153 0.01 NA 0.03 0.02 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515419 NA NA NA NA NA 0.014 NA 3.9771 1254 16 66646591 66646591 C T UTR3 CMTM3 NM_144601:c.*51C>T,NM_181553:c.*51C>T NA NA UTR3 ENSG00000140931 ENST00000424011:c.*51C>T,ENST00000562707:c.*51C>T,ENST00000361909:c.*51C>T,ENST00000460097:c.*51C>T,ENST00000567572:c.*51C>T,ENST00000564060:c.*51C>T,ENST00000566756:c.*226C>T,ENST00000568477:c.*51C>T,ENST00000566121:c.*51C>T NA NA NA NA 16q21 NA NA Name=8 NA rs3743719 0.39 0.39 0.345 0.364417 0.4672 0.4196 0.3718 0.2088 0.407 0.46 0.44 0.41 0.22 0.4282 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286837 NA NA 0.461028 0.231591 NA 0.275 NA 3.9769054 1254 22 42908897 42908897 T C UTR3 RRP7A NM_015703:c.*19A>G NA NA UTR3 ENSG00000189306 ENST00000323013:c.*19A>G NA NA NA NA 22q13.2 NA NA NA NA rs13504 0.13 0.13 0.076 0.120407 0.162 0.0516 0.1974 0.1498 0.0542 0.16 0.02 0.2 0.16 0.1947 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17885 NA NA NA NA NA 0.101 NA 3.9766334 1254 6 31106268 31106268 A G intronic PSORS1C1,PSORS1C2 NA NA NA intronic ENSG00000204538,ENSG00000204540 NA NA NA NA Name=Systemic sclerosis 6p21.33 NA NA NA NA rs3130573 0.34 0.34 0.348 0.342652 0.3469 0.1835 0.317 0.4879 0.3241 0.37 0.19 0.29 0.51 0.3306 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113475 NA NA 0.345884 0.448709 NA 0.355 NA 3.976616 1254 7 150738180 150738180 C T intronic ABCB8 NA NA NA intronic ENSG00000197150 NA NA NA NA NA 7q36.1 NA NA NA NA rs56221441 0.01 0.01 NA 0.00419329 0.0149 NA 0.0086 NA NA 0.01 NA 0.01 NA 0.0032 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791301 NA NA 0.005349 0.000908 NA NA NA 3.976551 1254 10 97983762 97983762 A G intronic BLNK NA NA NA intronic ENSG00000095585 NA NA NA NA NA 10q24.1 NA NA NA NA rs118063042 0.01 0.01 0.006 0.00898562 0.0099 NA 0.0101 0.0166 0.0061 0.01 NA 0.01 0.02 0.0065 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674211 NA NA 0.007326 0.012029 NA 0.007 NA 3.976274 1254 8 30416484 30416484 G A intronic RBPMS NA NA NA intronic ENSG00000157110 NA NA NA NA NA 8p12 NA NA NA NA rs138861966 0.0041 0.0041 0.002 0.00299521 0.0089 NA 0.0058 0.0008 0.001 0.01 NA 0.01 0.002 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024573 NA NA 0.008953 0.002724 NA NA NA 3.976247 1254 2 54856951 54856951 C T intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA NA NA NA rs10195423 0.04 0.04 0.03 0.0465256 0.007 0.001 0.0303 0.1536 0.001 0.004 0.0017 0.03 0.14 0.0148 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.503483 NA NA 0.001977 0.136178 NA 0.029 NA 3.976223 1254 19 30102967 30102967 G A intronic POP4 NA NA NA intronic ENSG00000105171 NA NA NA NA NA 19q12 NA NA NA NA rs76658284 0.03 0.03 0.035 0.0471246 0.0109 0.0069 0.0274 0.0666 0.1135 0.01 NA 0.04 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80252 NA NA 0.012885 0.078035 NA 0.036 NA 3.976215 1254 17 29206549 29206549 A C intronic ATAD5 NA NA NA intronic ENSG00000176208 NA NA NA NA NA 17q11.2 NA NA NA NA rs191477958 0.01 0.01 NA 0.00439297 0.0119 NA 0.013 0.0008 NA 0.01 NA 0.01 0.002 0.0046 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057827 NA NA 0.007326 0.002272 NA NA NA 3.976174 1254 5 171766963 171766963 G A intronic SH3PXD2B NA NA NA intronic ENSG00000174705 NA NA NA NA NA 5q35.1 NA NA NA NA rs79042273 0.0041 0.0041 0.006 0.00239617 0.0089 NA 0.0014 NA 0.002 0.01 NA 0.0028 NA 0.0058 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27202 NA NA 0.009188 0.001362 NA 0.043 NA 3.976112 1254 12 7757467 7757467 T C intergenic CD163,APOBEC1 dist=101053;dist=44529 NA NA ncRNA_exonic ENSG00000256331 NA NA NA NA NA 12p13.31 NA NA NA NA rs118007663 0.02 0.02 0.016 0.0135783 0.0239 NA 0.0303 0.0144 0.0041 0.02 NA 0.03 0.02 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237529 NA NA NA NA NA 0.007 NA 3.9761 1254 21 44742350 44742350 C T intergenic CRYAA,SIK1 dist=149437;dist=92048 NA NA ncRNA_exonic ENSG00000237864 NA NA NA NA NA 21q22.3 NA NA NA NA rs55956145 0.01 0.01 0.008 0.00599042 0.0239 NA 0.0058 NA 0.002 0.02 NA 0.0028 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534508 NA NA NA NA NA NA NA 3.9761 1254 1 54476147 54476147 G A intronic LDLRAD1 NA NA NA intronic ENSG00000203985 NA NA NA NA NA 1p32.3 NA NA NA NA rs17109656 0.14 0.14 0.156 0.159944 0.0239 0.0565 0.0418 0.5008 0.0297 0.03 0.06 0.05 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504245 NA NA NA NA NA 0.174 NA 3.9761 1254 2 231222447 231222447 A G intronic SP140L NA NA NA intronic ENSG00000079263,ENSG00000185404 NA NA NA NA NA 2q37.1 NA NA NA NA rs76627271 0.01 0.01 0.005 0.00858626 0.0239 NA 0.0231 0.0008 0.002 0.03 NA 0.02 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.972727 NA NA NA NA NA 0.051 NA 3.9761 1254 6 147599434 147599434 A G intronic STXBP5 NA NA NA intronic ENSG00000164506 NA NA NA NA NA 6q24.3 NA NA NA NA rs80087606 0.01 0.01 0.006 0.00778754 0.0239 0.001 0.0043 0.0068 0.002 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.825941 1.825941 NA NA NA NA NA NA 3.9761 1254 14 70171604 70171604 A G intronic KIAA0247 NA NA NA intronic ENSG00000100647 NA NA NA NA NA 14q24.1 NA NA NA NA rs79592875 0.03 0.03 0.027 0.0201677 0.0239 0.0069 0.0115 0.0461 0.001 0.03 0.01 0.02 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.929368 1.929368 NA NA NA NA 0.065 NA 3.9761 1254 17 64876953 64876953 G T intronic CACNG5 NA NA NA intronic ENSG00000075429 NA NA NA NA NA 17q24.2 NA NA NA NA rs141748550 0.01 0.01 0.006 0.0121805 0.0239 NA 0.0101 0.0015 0.0286 0.02 NA 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918131 NA NA NA NA NA 0.007 NA 3.9761 1254 6 158504981 158504981 C T intronic SYNJ2 NA NA NA intronic ENSG00000078269 NA NA NA NA NA 6q25.3 NA NA Name=5 NA rs2236401 0.54 0.54 0.556 0.533746 0.5089 0.5774 0.3516 0.612 0.5378 0.53 0.55 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272381 NA NA 0.515068 0.583333 NA 0.551 NA 3.976032 1254 8 135622940 135622940 T G intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA NA NA rs118085744 0.0046 0.0046 0.008 0.00319489 0.0109 NA 0.0014 0.0015 0.002 0.01 NA 0.0028 0.0041 0.0049 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740613 NA NA 0.008205 0.001526 NA 0.014 NA 3.975995 1254 1 201330366 201330366 G C intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA NA NA 1q32.1 NA NA NA NA rs2275862 0.06 0.06 0.048 0.0579073 0.001 0.2183 0.013 0.0318 0.0184 0.0013 0.19 0.01 0.02 0.0223 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28131 NA NA 0.000814 0.030867 NA 0.051 NA 3.975886 1254 2 89084327 89084327 G C ncRNA_exonic ANKRD36BP2 NA NA NA ncRNA_exonic ENSG00000230006 NA NA NA NA NA 2p11.2 NA NA NA NA rs335121 0.71 0.71 0.759 0.709665 0.6909 0.4772 0.67 0.9841 0.6258 0.7 0.5 0.67 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.311776 NA NA NA NA NA 0.783 NA 3.9757666 1254 11 70007478 70007478 C T intronic ANO1 NA NA NA intronic ENSG00000131620 NA NA NA NA NA 11q13.3 NA NA NA NA rs112891405 0.0027 0.0027 NA 0.00838658 0.006 NA 0.0043 NA 0.0337 0.004 NA 0.01 NA 0.011 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268783 NA NA 0.007387 0.000692 NA NA NA 3.975613 1254 19 580793 580793 A C intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA Name=2 NA rs10416339 0.48 0.48 0.411 0.519369 0.3062 0.5188 0.5432 0.6914 0.4898 0.28 0.53 0.51 0.68 0.3979 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685895 NA NA 0.320307 0.636529 NA 0.471 NA 3.975593 1254 6 150023348 150023348 C G UTR5 LATS1 NM_004690:c.-86G>C,NM_001270519:c.-86G>C NA NA UTR5 ENSG00000131023 ENST00000543571:c.-86G>C,ENST00000253339:c.-86G>C,ENST00000441107:c.-86G>C,ENST00000392273:c.-86G>C,ENST00000542720:c.-86G>C NA NA NA NA 6q25.1 NA NA NA NA rs4870509 0.47 0.47 0.418 0.433307 0.3579 0.8244 0.6023 0.1452 0.3773 0.35 0.8 0.57 0.18 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527421 1.527421 NA NA NA NA 0.478 NA 3.9754334 1254 11 46742047 46742047 C G intronic F2 NA NA NA intronic ENSG00000180210 NA NA NA NA NA 11p11.2 NA NA NA NA rs147062971 0.01 0.01 0.003 0.00359425 0.0129 NA 0.0072 NA NA 0.01 NA 0.01 NA 0.0058 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004692 NA NA 0.006164 0.001363 NA NA NA 3.975136 1254 2 71762092 71762092 G A intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs184773309 0.01 0.01 NA 0.00778754 0.0139 0.001 0.0043 NA 0.0215 0.01 NA 0.0028 NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280577 NA NA 0.010999 0.002168 NA 0.014 NA 3.975101 1254 1 179347679 179347679 A G intronic AXDND1 NA NA NA intronic ENSG00000162779 NA NA NA NA NA 1q25.2 NA NA NA NA rs144872008 0.01 0.01 0.003 0.00678914 0.0249 NA 0.0058 0.0015 0.0031 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317847 NA NA NA NA NA NA NA 3.9751 1254 2 170029849 170029849 C T intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs62172587 0.01 0.01 NA 0.0081869 0.0249 0.004 0.0014 NA 0.0112 0.02 0.01 0.0028 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783438 NA NA NA NA NA NA NA 3.9751 1254 4 175181085 175181085 T C intronic FBXO8 NA NA NA intronic ENSG00000164117 NA NA NA NA NA 4q34.1 NA NA NA NA rs79814512 0.01 0.01 0.01 0.00698882 0.0249 NA 0.0115 0.0008 0.001 0.03 NA 0.01 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873315 NA NA NA NA NA 0.007 NA 3.9751 1254 7 86542136 86542136 A C intronic KIAA1324L NA NA NA intronic ENSG00000164659 NA NA NA NA NA 7q21.12 NA NA NA NA rs13231385 0.01 0.01 0.008 0.00738818 0.0249 NA 0.0058 0.0038 0.0031 0.03 NA 0.01 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.213305 NA NA NA NA NA 0.007 NA 3.9751 1254 11 134217147 134217147 G A intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs117883178 0.01 0.01 0.009 0.00698882 0.0249 NA 0.0043 NA 0.0072 0.02 NA 0.0028 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066766 NA NA NA NA NA 0.007 NA 3.9751 1254 17 26081122 26081122 A T intergenic LGALS9,NOS2 dist=104536;dist=2670 NA NA ncRNA_exonic ENSG00000266786 NA NA NA NA NA 17q11.2 NA NA NA NA rs192646452 0.01 0.01 NA 0.0105831 0.0249 NA 0.0115 0.0023 0.0174 0.02 NA 0.01 0.0041 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697593 NA NA NA NA NA 0.014 NA 3.9751 1254 18 5395478 5395478 C T intronic EPB41L3 NA NA NA intronic ENSG00000082397 NA NA NA NA NA 18p11.31 NA NA NA NA rs73375704 0.03 0.03 0.033 0.0245607 0.0249 NA 0.0144 0.0567 0.0133 0.03 NA 0.02 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432029 NA NA NA NA NA 0.036 NA 3.9751 1254 18 5396045 5396045 A G intronic EPB41L3 NA NA NA intronic ENSG00000082397 NA NA NA NA NA 18p11.31 NA NA NA NA rs375999728 NA NA NA 0.0465256 0.0249 NA 0.0187 0.1354 0.0164 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709024 NA NA NA NA NA NA NA 3.9751 1254 22 46742157 46742157 G C intronic TRMU NA NA NA intronic ENSG00000100416 NA NA NA NA NA 22q13.31 NA NA NA NA rs6008768 0.16 0.16 0.177 0.196885 0.0249 NA 0.0663 0.6694 0.0307 0.02 NA 0.07 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27783 NA NA NA NA NA 0.196 NA 3.9751 1255 19 39693670 39693670 C G intronic SYCN NA NA NA intronic ENSG00000179751 NA NA NA NA NA 19q13.2 NA NA NA NA rs73553708 0.04 0.04 0.045 0.0467252 0.002 NA 0.013 0.1687 NA 0.0013 NA 0.02 0.17 0.0218 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228418 NA NA 0.00122 0.170777 NA 0.087 NA 3.97498 1255 8 142161064 142161064 C T intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA Name=Obesity-related traits 8q24.3 NA NA NA NA rs3816063 0.29 0.29 0.294 0.267372 0.3767 0.1994 0.2378 0.2504 0.2689 0.39 0.21 0.26 0.25 0.3067 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.900686 NA NA 0.341628 0.264639 NA 0.203 NA 3.974972 1255 12 120574976 120574976 C T intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs56130412 0.05 0.05 0.059 0.0636981 NA 0.1081 0.0245 0.1014 0.0603 NA 0.11 0.02 0.1 0.0235 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602271 NA NA 0.00154 0.095825 NA 0.029 NA 3.97496 1255 10 97976495 97976495 C G intronic BLNK NA NA NA intronic ENSG00000095585 NA NA NA NA NA 10q24.1 NA NA NA NA rs17111459 0.01 0.01 0.013 0.014377 0.0099 NA 0.0086 0.0378 0.0061 0.01 NA 0.01 0.04 0.0077 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.561902 NA NA 0.007791 0.023377 NA 0.007 NA 3.974609 1255 11 69486591 69486591 T G intronic ORAOV1 NA NA NA intronic ENSG00000149716 NA NA NA NA NA 11q13.3 NA NA NA NA rs142367375 0.0041 0.0041 0 0.00439297 0.0089 NA 0.0029 NA 0.0112 0.01 NA 0.01 NA 0.0064 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019224 NA NA 0.01013 0.001818 NA NA NA 3.97457 1255 1 224585958 224585958 A C ncRNA_exonic MIR4742 NA NA NA ncRNA_exonic ENSG00000266618 NA NA NA NA NA 1q42.11 NA NA NA NA rs7522956 0.23 0.23 0.234 0.231629 0.2485 0.0109 0.1686 0.5091 0.1115 0.24 0.01 0.2 0.5 0.2169 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160832 NA NA 0.226744 0.470481 NA 0.37 NA 3.9745226 1255 21 47737081 47737081 C T intronic C21orf58 NA NA NA intronic ENSG00000160298 NA NA NA NA NA 21q22.3 NA NA NA NA rs371184858 NA NA NA 0.00179712 0.008 NA NA NA 0.001 NA NA NA NA 0.0076 0.0099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98345 NA NA 0.009937 0.001372 NA NA NA 3.974463 1255 3 172321697 172321697 C T intergenic TNFSF10,NCEH1 dist=80400;dist=26738 NA NA ncRNA_exonic ENSG00000224426 NA NA NA NA NA 3q26.31 NA NA NA NA rs35974192 0.01 0.01 0.009 0.0127796 0.0258 NA 0.036 0.0015 0.0112 0.02 NA 0.04 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741378 NA NA NA NA NA 0.065 NA 3.9742 1255 1 182554330 182554330 G A intronic RNASEL NA NA NA intronic ENSG00000135828 NA NA NA NA NA 1q25.3 NA NA NA NA rs78685194 0.01 0.01 0.011 0.00738818 0.0258 NA 0.0043 0.0008 0.0072 0.03 NA 0.01 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333426 NA NA NA NA NA 0.022 NA 3.9742 1255 2 73477257 73477257 C A intronic CCT7 NA NA NA intronic ENSG00000135624 NA NA NA NA NA 2p13.2 NA NA NA NA rs2231435 0.07 0.07 0.069 0.0632987 0.0258 NA 0.0403 0.1989 NA 0.02 NA 0.06 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155044 NA NA NA NA NA 0.094 NA 3.9742 1255 2 231077268 231077268 C T intronic SP110 NA NA NA intronic ENSG00000079263,ENSG00000135899 NA NA NA NA NA 2q37.1 NA NA NA NA rs41309094 0.01 0.01 0.013 0.0113818 0.0258 NA 0.0144 0.0015 0.0194 0.03 NA 0.02 0.002 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097348 NA NA NA NA NA 0.022 NA 3.9742 1255 4 123237811 123237811 G A intronic KIAA1109 NA NA NA intronic ENSG00000138688 NA NA NA NA NA 4q27 NA NA NA NA rs75396983 0.01 0.01 0.012 0.00758786 0.0258 NA 0.0115 0.0015 0.002 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.536791 2.536791 NA NA NA NA 0.007 NA 3.9742 1255 9 139988754 139988754 A C intronic MAN1B1 NA NA NA intronic ENSG00000177239 NA NA NA NA NA 9q34.3 NA NA NA NA rs118009986 0.01 0.01 0.004 0.0123802 0.0258 0.001 0.0014 NA 0.0348 0.03 NA NA NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26452 NA NA NA NA NA 0.007 NA 3.9742 1255 13 99043224 99043224 A C intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs9584830 0.03 0.03 0.026 0.0295527 0.0258 NA 0.0274 0.0537 0.0327 0.02 NA 0.04 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090805 NA NA NA NA NA 0.029 NA 3.9742 1255 19 33106721 33106721 C T intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs10409374 0.07 0.07 0.084 0.0800719 0.002 NA 0.0216 0.2905 NA NA NA 0.03 0.29 0.0232 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181028 NA NA 0.000698 0.233772 NA 0.08 NA 3.974102 1255 1 229675343 229675343 C T intronic ABCB10 NA NA NA intronic ENSG00000135776 NA NA NA NA NA 1q42.13 NA NA NA NA rs35725309 0.03 0.03 0.043 0.0471246 0.004 0.002 0.013 0.1581 0.0123 0.0013 NA 0.01 0.14 0.0175 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040922 NA NA 0.004419 0.135951 NA 0.051 NA 3.974081 1255 3 386247 386247 C T intronic CHL1 NA NA NA intronic ENSG00000134121 NA NA NA NA NA 3p26.3 NA NA Name=3 NA rs3736632 0.28 0.28 0.254 0.284145 0.333 0.3621 0.268 0.0862 0.4325 0.34 0.39 0.26 0.08 0.3522 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372869 1.372869 NA 0.340814 0.108715 NA 0.167 NA 3.973986 1255 8 124357352 124357352 G A intronic ATAD2 NA NA NA intronic ENSG00000156802 NA NA NA NA NA 8q24.13 NA NA NA NA rs117906147 0.0037 0.0037 0.002 0.00539137 0.005 0.001 0.0058 NA 0.0174 0.01 0.0017 0.01 NA 0.0086 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335513 NA NA 0.012442 0.000454 NA 0.007 NA 3.973958 1255 1 27435976 27435976 C G intronic SLC9A1 NA NA NA intronic ENSG00000090020 NA NA NA NA NA 1p36.11 NA Name=CTCF NA NA rs3738689 0.23 0.23 0.228 0.236621 0.3469 0.1141 0.1758 0.1974 0.3456 0.36 0.1 0.22 0.18 0.3087 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.012419 NA NA 0.370465 0.23695 NA 0.239 NA 3.973935 1255 20 34319775 34319775 A T intronic RBM39 NA NA NA UTR3 ENSG00000131051 ENST00000426951:c.*87T>A NA NA NA NA 20q11.22 NA NA NA NA rs2425112 0.24 0.24 0.248 0.289936 0.1928 0.1835 0.1902 0.4486 0.3558 0.19 0.15 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961778 NA NA NA NA NA 0.261 NA 3.9738667 1255 4 41983787 41983787 C T UTR5 DCAF4L1 NM_001029955:c.-23C>T NA NA UTR5 ENSG00000182308 ENST00000333141:c.-23C>T NA NA NA NA 4p13 NA NA NA NA rs2174728 0.06 0.06 0.066 0.0433307 0.1352 0.001 0.0677 0.0068 0.0245 0.13 0.0017 0.08 0.01 0.0944 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699492 NA NA 0.13 0.023604 NA 0.058 NA 3.9737334 1255 8 141568725 141568725 G A intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA Name=12 NA rs2292776 0.62 0.62 0.617 0.655551 0.493 0.6022 0.6095 0.8691 0.6217 0.5 0.6 0.59 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504147 NA NA 0.533312 0.815751 NA 0.652 NA 3.973688 1255 7 156468656 156468656 G A intronic RNF32 NA NA NA ncRNA_intronic ENSG00000225666 NA NA NA NA NA 7q36.3 NA NA NA NA rs2365513 0.43 0.43 0.427 0.420327 0.3598 0.4246 0.3501 0.5976 0.2883 0.38 0.42 0.34 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55418 NA NA NA NA NA 0.312 NA 3.9735333 1255 16 53333569 53333569 G T intronic CHD9 NA NA NA ncRNA_exonic ENSG00000261056 NA NA NA NA NA 16q12.2 NA NA NA NA rs2287079 0.32 0.32 0.273 0.294728 0.3598 0.2927 0.5418 0.2375 0.1319 0.35 0.25 0.49 0.21 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792738 NA NA NA NA NA 0.355 NA 3.9735333 1255 2 174094500 174094500 G A ncRNA_intronic MLK7-AS1 NA NA NA ncRNA_intronic ENSG00000238133 NA NA NA NA NA 2q31.1 NA NA NA NA rs16861404 0.24 0.24 0.243 0.240615 0.2406 0.0536 0.2795 0.3903 0.2035 0.22 0.06 0.3 0.43 0.2217 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.716814 1.716814 NA 0.230882 0.352002 NA 0.348 NA 3.9734846 1255 15 90617539 90617539 C T intronic ZNF710 NA NA NA exonic ENSG00000140548 NA synonymous SNV ENSG00000140548:ENST00000558883:exon3:c.C966T:p.R322R NA NA 15q26.1 NA NA NA NA rs6496620 0.35 0.35 0.349 0.389976 0.2873 0.5367 0.3386 0.3238 0.4703 0.27 0.52 0.31 0.33 0.3161 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159416 NA NA 0.256515 0.323182 NA 0.268 NA 3.9734183 1255 8 110448720 110448720 C T intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs144465841 0.01 0.01 0.01 0.00958466 0.0089 NA 0.0159 0.0008 0.0276 0.01 NA 0.01 NA 0.0091 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.224335 2.224335 NA 0.008684 0.00274 NA NA NA 3.973316 1255 15 25444577 25444577 C T upstream SNORD115-16 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs11630308 0.15 0.15 0.154 0.178115 0.0537 0.2827 0.0346 0.2852 0.1554 0.06 0.27 0.03 0.22 0.0892 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979971 NA NA 0.050477 0.233447 NA 0.138 NA 3.9732896 1255 1 10394764 10394764 C T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs115067562 0.01 0.01 0.011 0.013778 0.0268 NA 0.0187 0.0023 0.0266 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358445 NA NA NA NA NA 0.014 NA 3.9732 1255 3 51284317 51284317 G A intronic DOCK3 NA NA NA intronic ENSG00000088538 NA NA NA NA NA 3p21.2 NA NA NA NA rs112799991 0.01 0.01 0.012 0.00798722 0.0268 NA 0.0043 0.0023 0.0072 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358328 NA NA NA NA NA NA NA 3.9732 1255 4 20482251 20482251 G T intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA NA NA rs2125207 0.05 0.05 0.05 0.0513179 0.0268 0.0595 0.049 0.0885 0.0194 0.02 0.06 0.04 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769914 NA NA NA NA NA 0.051 NA 3.9732 1255 7 86804053 86804053 A C intronic DMTF1 NA NA NA intronic ENSG00000135164 NA NA NA NA NA 7q21.12 NA NA NA NA rs11976564 0.04 0.04 0.039 0.034345 0.0268 0.0635 0.0115 0.0492 0.0082 0.03 0.06 0.01 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078201 NA NA NA NA NA 0.116 NA 3.9732 1255 11 43911211 43911211 A G intronic ALKBH3 NA NA NA intronic ENSG00000166199 NA NA NA NA NA 11p11.2 NA NA NA NA rs35076527 0.06 0.06 0.036 0.0605032 0.0268 0.0248 0.2046 0.0393 0.0583 0.02 0.03 0.19 0.04 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057979 NA NA NA NA NA 0.065 NA 3.9732 1255 12 430075 430075 T A intronic KDM5A NA NA NA intronic ENSG00000073614 NA NA NA NA NA 12p13.33 NA NA NA NA rs79485732 0.02 0.02 0.026 0.024361 0.0268 NA 0.013 0.0371 0.0378 0.03 NA 0.01 0.05 NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607313 NA NA NA NA NA 0.036 NA 3.9732 1255 12 114358278 114358278 G C intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs77735222 0.09 0.09 0.066 0.0788738 0.0268 0.126 0.2421 0.0408 0.0194 0.03 0.15 0.19 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.171931 NA NA NA NA NA 0.029 NA 3.9732 1255 12 114384364 114384364 C T intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs2290793 0.08 0.08 0.063 0.0760783 0.0268 0.1131 0.2406 0.0416 0.0184 0.03 0.13 0.19 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274895 NA NA NA NA NA 0.029 NA 3.9732 1255 12 114398071 114398071 C T intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs78337597 0.08 0.08 0.064 0.076278 0.0268 0.1131 0.2421 0.0416 0.0184 0.03 0.13 0.19 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400386 NA NA NA NA NA 0.029 NA 3.9732 1255 14 64548419 64548419 C G intronic SYNE2 NA NA NA intronic ENSG00000054654 NA NA NA NA NA 14q23.2 NA NA NA NA rs17101626 0.06 0.06 0.071 0.0662939 0.0268 NA 0.0303 0.1853 0.0399 0.03 NA 0.04 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059132 NA NA NA NA NA 0.101 NA 3.9732 1255 22 18016709 18016709 T A intronic CECR2 NA NA NA intronic ENSG00000099954 NA NA NA NA NA 22q11.21 NA NA NA NA rs62241410 0.04 0.04 0.039 0.0473243 0.0268 0.0179 0.0331 0.1165 0.0153 0.03 0.02 0.03 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109836 NA NA NA NA NA 0.036 NA 3.9732 1255 22 25153784 25153784 G A intronic PIWIL3 NA NA NA intronic ENSG00000184571 NA NA NA NA NA 22q11.23 NA NA NA NA rs79223236 0.01 0.01 0.015 0.0091853 0.0268 0.001 0.0173 0.0008 0.0051 0.02 0.0017 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683951 NA NA NA NA NA NA NA 3.9732 1255 1 168545864 168545864 A G UTR5 XCL1 NM_002995:c.-12A>G NA NA UTR5 ENSG00000143184 ENST00000367818:c.-12A>G NA NA NA NA 1q24.2 NA NA NA NA rs116453184 0.08 0.08 0.076 0.129593 0.164 0.0079 0.1239 0.2216 0.0992 0.1 0.01 0.09 0.12 0.1095 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.620603 1.620603 NA 0.086744 0.087835 NA 0.029 NA 3.9730894 1255 16 88039895 88039895 G A intronic BANP NA NA NA intronic ENSG00000172530 NA NA NA NA NA 16q24.2 NA NA NA NA rs139770048 0.01 0.01 0.005 0.00359425 0.0099 NA 0.0043 NA 0.0051 0.01 NA 0.01 NA 0.0079 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123046 NA NA 0.009188 0.001592 NA 0.043 NA 3.973012 1255 9 90388270 90388270 A T ncRNA_intronic CTSL3P NA NA NA ncRNA_intronic ENSG00000188029 NA NA NA NA NA 9q21.33 NA NA NA NA rs7853247 0.85 0.85 0.862 0.864617 0.6938 0.9782 0.8127 0.9554 0.8374 0.71 0.97 0.79 0.95 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417273 NA NA NA NA NA 0.87 NA 3.9728666 1255 11 114183309 114183309 A G downstream NNMT NA NA NA ncRNA_UTR3 ENSG00000166741 NA NA NA NA NA 11q23.2 NA NA NA NA rs4646337 0.2 0.2 0.2 0.211462 0.1938 0.1468 0.2334 0.3185 0.136 0.2 0.14 0.22 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337441 NA NA NA NA NA 0.217 NA 3.9728666 1255 16 87960333 87960333 C T intronic CA5A NA NA NA intronic ENSG00000174990 NA NA NA NA NA 16q24.2 NA NA NA NA rs138646822 0.01 0.01 0.003 0.00519169 0.0129 NA 0.0072 0.0008 0.0072 0.01 NA 0.02 0.002 0.007 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418049 NA NA 0.007326 0.001137 NA 0.051 NA 3.972774 1255 1 207235954 207235954 G A intronic PFKFB2 NA NA NA UTR5 ENSG00000123836 ENST00000411990:c.-94G>A NA NA Score=504;Name=lod=149 NA 1q32.2 NA NA NA NA rs2075863 0.28 0.28 0.27 0.256989 0.4155 0.1657 0.2522 0.2027 0.2648 0.4 0.16 0.29 0.23 0.3513 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.612443 2.612443 NA 0.427209 0.238538 ID=COSN163412;OCCURENCE=1(breast) 0.326 NA 3.9726577 1255 6 30036333 30036333 G C intronic PPP1R11 NA NA NA UTR5 ENSG00000204619 ENST00000376758:c.-121G>C NA NA NA NA 6p22.1 NA NA NA NA rs17187693 0.07 0.07 0.042 0.0848642 0.0586 0.1925 0.0317 0.0008 0.1524 0.06 0.16 0.04 0.002 0.0737 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682692 NA NA 0.062016 0.016225 NA 0.087 NA 3.9723507 1255 11 123753803 123753803 T C UTR3 TMEM225 NM_001013743:c.*42A>G NA NA UTR3 ENSG00000204300 ENST00000375026:c.*42A>G NA NA NA NA 11q24.1 NA NA NA NA rs1939928 0.14 0.14 0.143 0.139577 0.1392 0.0228 0.0937 0.2935 0.0849 0.14 0.02 0.09 0.32 0.1255 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119083 NA NA 0.096301 0.187784 NA 0.123 NA 3.9723324 1255 1 103385791 103385791 C G intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs142849188 0.01 0.01 0.011 0.0117812 0.0278 NA 0.0202 NA 0.0174 0.02 NA 0.02 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569001 NA NA NA NA NA 0.051 NA 3.9722 1255 2 28626860 28626860 G A intronic FOSL2 NA NA NA intronic ENSG00000075426 NA NA NA NA NA 2p23.2 NA NA NA NA rs11900743 0.09 0.09 0.1 0.108427 0.0278 0.002 0.0346 0.3169 0.0716 0.03 NA 0.03 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0867 NA NA NA NA NA 0.072 NA 3.9722 1255 2 86734778 86734778 C T intronic CHMP3,RNF103-CHMP3 NA NA NA intronic ENSG00000115561,ENSG00000249884 NA NA NA NA NA 2p11.2 NA NA NA NA rs3731811 0.02 0.02 0.019 0.0235623 0.0278 0.0526 0.0231 0.0008 0.0204 0.03 0.03 0.03 NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152873 NA NA NA NA NA 0.022 NA 3.9722 1255 2 170058449 170058449 C T intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs62172610 0.01 0.01 0.01 0.0113818 0.0278 NA 0.0101 0.0008 0.0215 0.03 NA 0.01 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.88867 1.88867 NA NA NA NA NA NA 3.9722 1255 5 53154963 53154963 C T intergenic NDUFS4,ARL15 dist=175792;dist=25651 NA NA upstream ENSG00000217791 NA NA NA NA NA 5q11.2 NA Name=JunD NA NA rs271251 0.45 0.45 0.414 0.435104 0.5278 0.2877 0.5677 0.382 0.4693 0.54 0.29 0.55 0.41 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686755 NA NA NA NA NA 0.493 NA 3.9722 1255 6 31631531 31631531 G A intronic GPANK1 NA NA NA intronic ENSG00000204438 NA NA NA NA NA 6p21.33 NA NA NA NA rs114733011 0.01 0.01 0.005 0.0133786 0.0278 0.003 0.0259 0.0015 0.0164 0.02 0.01 0.02 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997023 NA NA NA NA NA 0.007 NA 3.9722 1255 9 137659000 137659000 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs72774432 0.03 0.03 0.02 0.0259585 0.0278 0.0585 0.0173 0.003 0.0276 0.03 0.05 0.02 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399495 NA NA NA NA NA 0.058 NA 3.9722 1255 11 116628396 116628396 C T intronic BUD13 NA NA NA intronic ENSG00000137656 NA NA NA NA NA 11q23.3 NA NA NA NA rs143811287 0.01 0.01 0.006 0.00658946 0.0278 NA 0.0058 NA 0.001 0.03 NA 0.01 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433424 NA NA NA NA NA 0.007 NA 3.9722 1255 16 89920603 89920603 C T intronic SPIRE2 NA NA NA intronic ENSG00000204991 NA NA NA NA NA 16q24.3 NA NA NA NA rs147256394 0.01 0.01 0.01 0.00758786 0.0278 NA 0.0101 0.0023 NA 0.03 NA 0.02 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296722 NA NA NA NA NA 0.014 NA 3.9722 1255 17 29206365 29206365 A C intronic ATAD5 NA NA NA intronic ENSG00000176208 NA NA NA NA NA 17q11.2 NA NA NA NA rs117202596 0.01 0.01 0.008 0.00958466 0.0278 0.001 0.0187 0.0015 0.0041 0.03 0.0017 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194405 NA NA NA NA NA 0.007 NA 3.9722 1255 18 72177989 72177989 G T intronic CNDP2 NA NA NA intronic ENSG00000133313 NA NA NA NA NA 18q22.3 NA NA NA NA rs79359709 0.01 0.01 0.008 0.013778 0.0278 0.002 0.013 0.0015 0.0286 0.03 NA 0.01 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059038 NA NA NA NA NA 0.007 NA 3.9722 1255 15 52609241 52609241 C T intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs72734962 0.0041 0.0041 0.005 0.00259585 0.0089 NA 0.0014 NA 0.0031 0.01 NA 0.0028 NA 0.0072 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067055 NA NA 0.011704 0.001887 NA 0.007 NA 3.972196 1255 13 73350257 73350257 C T intronic DIS3 NA NA NA intronic ENSG00000083520 NA NA NA NA NA 13q22.1 NA NA NA NA rs142135553 0.01 0.01 0.006 0.00319489 0.0139 NA 0.0029 NA NA 0.01 NA 0.0028 NA 0.006 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256277 NA NA 0.007912 0.002955 NA 0.007 NA 3.972188 1255 14 33292743 33292743 A C exonic AKAP6 NA synonymous SNV AKAP6:NM_004274:exon13:c.A5724C:p.G1908G exonic ENSG00000151320 NA synonymous SNV ENSG00000151320:ENST00000280979:exon13:c.A5724C:p.G1908G NA NA 14q12 NA NA NA NA rs2239647 0.7 0.7 0.723 0.711262 0.5427 0.6696 0.683 0.9092 0.68 0.55 0.73 0.68 0.9 0.6078 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.538101 NA NA 0.54407 0.858602 NA 0.63 NA 3.9720966 1255 18 10472074 10472074 G A intronic APCDD1 NA NA NA intronic ENSG00000154856 NA NA NA NA NA 18p11.22 NA NA NA NA rs117942846 0.0027 0.0027 0 0.00359425 0.0089 NA 0.0043 0.0008 0.0051 0.01 NA NA 0.002 0.0074 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70675 NA NA 0.011639 0.002271 NA NA NA 3.972061 1255 22 50277883 50277883 A G exonic ZBED4 NA synonymous SNV ZBED4:NM_014838:exon2:c.A573G:p.P191P exonic ENSG00000100426 NA synonymous SNV ENSG00000100426:ENST00000216268:exon2:c.A573G:p.P191P NA NA 22q13.33 Score=1000;Name=V$AML1_01 NA NA NA rs910797 0.93 0.93 0.918 0.935304 0.8877 0.9464 0.9352 0.9955 0.8916 0.87 0.94 0.92 0.99 0.9095 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.24833 NA NA 0.897558 0.977985 NA 0.797 NA 3.9719086 1255 5 1076365 1076365 C G intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs200705160 0.0032 0.0032 NA 0.00259585 0.0089 NA 0.0029 0.0015 NA 0.01 NA NA 0.002 0.0112 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218548 NA NA 0.008034 0.000685 NA 0.051 NA 3.971866 1255 6 42025318 42025318 G A intronic TAF8 NA NA NA UTR3 ENSG00000137413 ENST00000372978:c.*31G>A NA NA NA NA 6p21.1 NA NA NA NA rs12208813 0.1 0.1 0.094 0.100639 0.0924 0.2569 0.0389 0.0068 0.1186 0.09 0.23 0.05 0.01 0.1025 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087666 NA NA NA NA NA 0.08 NA 3.9717667 1255 5 75996837 75996837 C T intronic IQGAP2 NA NA NA ncRNA_intronic ENSG00000225407 NA NA NA NA NA 5q13.3 NA NA NA NA rs10942789 0.3 0.3 0.292 0.283946 0.3618 0.2837 0.268 0.3064 0.1851 0.35 0.27 0.27 0.27 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129107 NA NA NA NA NA 0.159 NA 3.9715333 1255 5 167517505 167517505 C G intronic TENM2 NA NA NA ncRNA_intronic ENSG00000253925 NA NA NA NA NA 5q34 NA NA NA NA rs2053049 0.45 0.45 0.447 0.483826 0.3618 0.5159 0.451 0.4735 0.6135 0.35 0.54 0.41 0.5 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404603 NA NA NA NA NA 0.5 NA 3.9715333 1255 5 170215490 170215490 T C intronic GABRP NA NA NA ncRNA_intronic ENSG00000253348 NA NA NA NA NA 5q35.1 NA NA NA NA rs4868028 0.47 0.47 0.449 0.47484 0.3618 0.497 0.5504 0.5091 0.4683 0.36 0.51 0.52 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892606 NA NA NA NA NA 0.478 NA 3.9715333 1255 14 81449534 81449534 T C intronic TSHR NA NA NA ncRNA_exonic ENSG00000258915 NA NA NA NA NA 14q31.1 NA NA NA NA rs3783947 0.45 0.45 0.467 0.432308 0.3618 0.5873 0.4971 0.4145 0.3231 0.34 0.59 0.44 0.47 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973997 NA NA NA NA NA 0.471 NA 3.9715333 1255 19 4362761 4362761 G A intronic SH3GL1 NA NA NA intronic ENSG00000141985 NA NA NA NA NA 19p13.3 NA NA NA NA rs116493996 0.02 0.02 0.024 0.0151757 0.0089 NA 0.0101 0.0446 0.001 0.01 NA 0.01 0.05 0.0095 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589257 NA NA 0.010116 0.041307 NA 0.022 NA 3.971484 1255 10 107023003 107023003 A G intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs141127316 0.01 0.01 0.002 0.00439297 0.0129 NA 0.0058 0.0008 0.0041 0.01 NA 0.01 0.002 NA 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.073572 3.073572 NA 0.015713 0.00289 NA NA NA 3.971387 1255 3 75466947 75466947 C A intergenic MIR4444-1,FAM86DP dist=203248;dist=3756 NA NA ncRNA_intronic ENSG00000238278 NA NA NA NA NA 3p12.3 NA NA NA NA rs12490872 0.06 0.06 0.064 0.0694888 0.0288 0.0556 0.0432 0.1271 0.0665 0.03 0.05 0.05 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541856 NA NA NA NA NA 0.014 NA 3.9712 1255 5 128448483 128448483 A G intronic ISOC1 NA NA NA intronic ENSG00000066583 NA NA NA NA NA 5q23.3 NA NA NA NA rs114895403 0.02 0.02 0.017 0.0105831 0.0288 NA 0.0274 NA 0.0051 0.03 NA 0.02 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718901 NA NA NA NA NA 0.022 NA 3.9712 1255 14 20872101 20872101 A C intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs112374310 0.01 0.01 0.013 0.0135783 0.0288 NA 0.0245 0.0023 0.0194 0.03 NA 0.02 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.560209 2.560209 NA NA NA NA NA NA 3.9712 1255 18 60028821 60028821 G T intronic TNFRSF11A NA NA NA intronic ENSG00000141655 NA NA NA NA NA 18q21.33 NA NA NA NA rs35407865 0.15 0.15 0.117 0.151757 0.0288 0.4127 0.147 0.1029 0.0787 0.03 0.36 0.14 0.1 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389728 NA NA NA NA NA 0.065 NA 3.9712 1255 1 62921146 62921146 G A intronic DOCK7 NA NA NA intronic ENSG00000116641 NA NA NA NA NA 1p31.3 NA NA NA NA rs146910328 0.01 0.01 0.007 0.00359425 0.0119 NA 0.0072 NA 0.001 0.01 NA 0.01 NA 0.0057 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.012786 4.012786 NA 0.011279 0.002497 NA 0.007 NA 3.971121 1255 3 142257273 142257273 A C intronic ATR NA NA NA intronic ENSG00000175054 NA NA NA NA NA 3q23 NA NA NA NA rs142734498 0.01 0.01 0.004 0.00299521 0.0099 NA 0.0029 0.0015 0.001 0.01 NA NA 0.002 0.009 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682126 NA NA 0.010051 0.001839 NA NA NA 3.971049 1255 3 42304784 42304784 A G intronic CCK NA NA NA intronic ENSG00000187094 NA NA NA NA NA 3p22.1 NA Name=TBP NA NA rs1868522 0.52 0.52 0.489 0.548323 0.4871 0.5506 0.5476 0.5219 0.6452 0.5 0.54 0.54 0.53 0.5421 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862733 NA NA NA NA NA 0.536 NA 3.9708 1255 9 19423823 19423823 A C intronic ACER2 NA NA NA intronic ENSG00000177076 NA NA NA NA NA 9p22.1 NA NA NA NA rs80061852 0.01 0.01 0.015 0.0153754 0.0109 NA 0.0029 0.031 0.0235 0.01 NA 0.0028 0.03 0.01 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707852 NA NA 0.008374 0.027009 NA 0.007 NA 3.970726 1255 16 3080632 3080632 C T intronic CCDC64B NA NA NA intronic ENSG00000162069 NA NA NA NA NA 16p13.3 NA NA NA NA rs182123535 0.0037 0.0037 NA 0.00379393 0.007 0.001 0.013 NA 0.002 0.01 NA 0.01 NA 0.0116 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897688 NA NA 0.0107 0.003128 NA NA NA 3.9707 1255 12 52862783 52862783 G A UTR3 KRT6C NM_173086:c.*63C>T NA NA UTR3 ENSG00000170465 ENST00000252250:c.*63C>T NA NA NA NA 12q13.13 NA NA NA NA rs2568 0.33 0.33 0.287 0.2502 0.3628 0.4812 0.2651 0.0242 0.1912 0.36 0.56 0.32 0.04 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313653 1.313653 NA NA NA NA 0.362 NA 3.9705334 1255 15 45567529 45567529 T C intronic SLC28A2 NA NA NA ncRNA_intronic ENSG00000259520 NA NA NA NA NA 15q21.1 NA NA NA NA rs12440356 0.52 0.52 0.5 0.514377 0.3628 0.8819 0.5548 0.3268 0.5164 0.34 0.94 0.51 0.33 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370334 NA NA NA NA NA 0.406 NA 3.9705333 1255 15 101448783 101448783 G A intronic ALDH1A3 NA NA NA ncRNA_intronic ENSG00000259583 NA NA NA NA NA 15q26.3 NA NA NA NA rs4646687 0.2 0.2 0.223 0.247604 0.3628 0.1181 0.1916 0.0658 0.5481 0.36 0.1 0.21 0.07 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79034 NA NA NA NA NA 0.326 NA 3.9705333 1255 12 59272586 59272586 A C intronic LRIG3 NA NA NA intronic ENSG00000139263 NA NA NA NA NA 12q14.1 NA NA NA NA rs184949213 0.0037 0.0037 NA 0.0091853 0.0089 NA 0.0101 NA 0.0307 0.01 NA 0.01 NA 0.0099 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499308 1.499308 NA 0.010698 0.001816 NA 0.007 NA 3.970502 1255 16 2027500 2027500 C T intronic TBL3 NA NA NA intronic ENSG00000183751 NA NA NA NA NA 16p13.3 NA NA NA NA rs144057628 0.01 0.01 0.003 0.00479233 0.0109 NA 0.0115 0.0008 0.0041 0.01 NA 0.02 0.002 0.0091 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406534 NA NA 0.009539 0.000911 NA NA NA 3.970461 1255 19 36276086 36276086 C T intronic ARHGAP33 NA NA NA intronic ENSG00000004777 NA NA NA NA NA 19q13.12 NA Name=CTCF NA NA rs2239949 0.4 0.4 0.364 0.401957 0.329 0.4851 0.3862 0.3147 0.5204 0.32 0.52 0.38 0.37 0.3786 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.25584 NA NA 0.322193 0.30193 NA 0.377 NA 3.970207 1255 7 30695388 30695388 A G intronic CRHR2 NA NA NA intronic ENSG00000106113 NA NA NA NA NA 7p14.3 NA NA NA NA rs111415208 0.08 0.08 0.093 0.0950479 0.0298 NA 0.0576 0.3064 0.001 0.03 NA 0.05 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681882 NA NA NA NA NA 0.159 NA 3.9702 1255 7 30695406 30695406 G A intronic CRHR2 NA NA NA intronic ENSG00000106113 NA NA NA NA NA 7p14.3 NA NA NA NA rs7812133 0.08 0.08 0.085 0.0950479 0.0298 NA 0.0576 0.3064 0.001 0.03 NA 0.05 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739305 NA NA NA NA NA 0.159 NA 3.9702 1255 8 79629455 79629455 C T intronic ZC2HC1A NA NA NA intronic ENSG00000104427 NA NA NA NA NA 8q21.12 NA NA NA NA rs76261772 0.02 0.02 0.009 0.0101837 0.0298 NA 0.0187 NA 0.0082 0.03 NA 0.03 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.710846 1.710846 NA NA NA NA NA NA 3.9702 1255 9 131115599 131115599 C T intronic SLC27A4 NA NA NA intronic ENSG00000167114 NA NA NA NA NA 9q34.11 NA NA NA NA rs36002272 0.01 0.01 0.012 0.0117812 0.0298 0.001 0.0202 0.0015 0.0123 0.03 0.0017 0.02 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462064 NA NA NA NA NA 0.014 NA 3.9702 1255 14 53178303 53178303 C A intronic PSMC6 NA NA NA intronic ENSG00000100519 NA NA NA NA NA 14q22.1 NA NA NA NA rs10483616 0.07 0.07 0.067 0.0613019 0.0298 0.1577 0.1268 0.0023 0.0276 0.03 0.16 0.1 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061077 NA NA NA NA NA 0.138 NA 3.9702 1255 22 30836313 30836313 T C intergenic MTFP1,SEC14L3 dist=11272;dist=18903 NA NA downstream ENSG00000230137 NA NA NA Score=407;Name=lod=60 NA 22q12.2 NA NA NA NA rs5753137 0.54 0.54 0.549 0.554313 0.5298 0.4623 0.5173 0.7209 0.4755 0.52 0.46 0.48 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763234 NA NA NA NA NA 0.638 NA 3.9702 1255 20 17923717 17923717 A C intronic SNX5 NA NA NA intronic ENSG00000089006 NA NA NA NA NA 20p11.23 NA NA NA NA rs145873414 0.01 0.01 0.006 0.00419329 0.0089 NA 0.0086 0.0015 0.0041 0.01 NA 0.01 0.01 0.0085 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926942 NA NA 0.012442 0.002724 NA 0.029 NA 3.970158 1255 14 106091329 106091329 G C intergenic TMEM121,ELK2AP dist=94790;dist=44585 NA NA exonic ENSG00000211892 NA nonsynonymous SNV ENSG00000211892:ENST00000390543:exon3:c.C565G:p.L189V NA NA 14q32.33 NA NA NA NA rs8015545 0.2 0.2 0.129 0.244808 0.2913 0.5238 0.2003 0.0159 0.2505 0.24 0.32 0.19 0.01 0.2827 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.97037 NA NA 0.289314 0.066317 NA 0.007 NA 3.9700194 1255 6 109770999 109770999 G C intronic MICAL1 NA NA NA intronic ENSG00000135596 NA NA NA NA NA 6q21 NA NA Name=6 NA rs752262 0.32 0.32 0.3 0.300919 0.3529 0.3502 0.3112 0.1536 0.3885 0.35 0.42 0.31 0.15 0.3368 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.777154 1.777154 NA 0.340349 0.179528 NA 0.254 NA 3.969951 1255 4 1976530 1976530 C T intronic WHSC1 NA NA NA intronic ENSG00000109685 NA NA NA NA NA 4p16.3 NA NA NA NA rs150150439 0.01 0.01 0.005 0.00479233 0.007 NA 0.013 0.0038 0.0031 0.01 NA 0.02 0.01 0.009 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.880112 1.880112 NA 0.014063 0.001142 NA NA NA 3.969937 1255 12 58202123 58202123 G A intronic AVIL NA NA NA intronic ENSG00000135407 NA NA NA NA NA 12q14.1 NA NA NA NA rs74724134 0.01 0.01 0.006 0.0071885 0.0099 NA 0.0072 NA 0.0215 0.01 NA 0.01 NA 0.0097 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730582 NA NA 0.010465 0.000908 NA NA NA 3.969935 1255 19 47341827 47341827 G A intronic AP2S1 NA NA NA intronic ENSG00000042753 NA NA NA NA NA 19q13.32 NA NA NA NA rs45527038 0.01 0.01 0.005 0.00638978 0.0119 NA 0.0187 NA 0.0072 0.01 NA 0.01 NA 0.0077 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404861 NA NA 0.010465 0.001816 NA NA NA 3.969935 1255 2 241808491 241808491 T A intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs58120546 0.14 0.14 0.078 NA NA NA NA NA NA 0.19 0.08 0.13 0.15 0.0302 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442053 NA NA NA NA NA 0.101 NA 3.9698 1255 9 135765261 135765261 C T intronic C9orf9 NA NA NA UTR3 ENSG00000165698 ENST00000372136:c.*1263C>T,ENST00000356311:c.*1263C>T NA NA NA NA 9q34.13 NA NA NA NA rs2231410 0.07 0.07 0.068 0.0688898 0.0924 0.001 0.0821 0.1278 0.0256 0.08 NA 0.1 0.1 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632673 NA NA 0.104651 0.116329 NA 0.058 NA 3.9696157 1255 7 98645565 98645565 C G intronic SMURF1 NA NA NA ncRNA_exonic ENSG00000242687 NA NA NA NA NA 7q22.1 NA NA NA NA rs219825 0.47 0.47 0.488 0.519968 0.3638 0.4494 0.3199 0.8003 0.5164 0.37 0.4 0.36 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631441 NA NA NA NA ID=COSN168154;OCCURENCE=1(large_intestine) 0.543 NA 3.9695333 1255 17 1585622 1585622 T C intronic PRPF8 NA NA NA intronic ENSG00000174231 NA NA NA NA NA 17p13.3 NA NA NA NA rs147307860 0.0041 0.0041 0.002 0.00299521 0.0109 NA 0.0014 0.0008 0.002 0.01 NA NA NA 0.0081 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22629 NA NA 0.011512 0.001589 NA NA NA 3.969488 1255 19 54721119 54721119 G A intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs200951745 0.01 0.01 NA 0.0061901 0.0129 NA 0.0014 0.0008 0.0164 0.01 NA 0.0028 NA 0.0102 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07758 NA NA 0.007562 0.001135 NA NA NA 3.969338 1255 1 35475943 35475943 C G intronic ZMYM6 NA NA NA intronic ENSG00000163867,ENSG00000271741 NA NA NA NA NA 1p34.3 NA NA NA NA rs9919282 0.29 0.29 0.325 0.318091 0.0308 0.3829 0.1167 0.7163 0.1513 0.02 0.38 0.12 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632255 NA NA NA NA NA 0.29 NA 3.9692 1255 3 184021626 184021626 C T intronic PSMD2 NA NA NA intronic ENSG00000145191,ENSG00000175166 NA NA NA NA NA 3q27.1 NA NA NA NA rs60496486 0.07 0.07 0.01 0.0712859 0.0308 0.0179 0.0317 0.1936 0.0307 0.03 0.03 0.03 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289405 NA NA NA NA NA NA NA 3.9692 1255 5 6632143 6632143 T C intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs114793623 0.02 0.02 0.013 0.0105831 0.0308 NA 0.0259 0.003 NA 0.03 NA 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767576 NA NA NA NA NA 0.014 NA 3.9692 1255 8 141568480 141568480 G C intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs148404917 0.02 0.02 0.009 0.0103834 0.0308 NA 0.0245 0.0008 0.0031 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97018 NA NA NA NA NA 0.036 NA 3.9692 1255 12 62628672 62628672 A G intergenic FAM19A2,USP15 dist=42052;dist=25449 NA NA ncRNA_exonic ENSG00000258316 NA NA NA NA NA 12q14.1 NA NA NA NA rs138155396 0.02 0.02 0.009 0.0125799 0.0308 0.001 0.0202 0.0008 0.0164 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167921 NA NA NA NA NA 0.051 NA 3.9692 1255 12 114395959 114395959 T C intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs73401073 0.15 0.15 0.145 0.176717 0.0308 0.1131 0.2824 0.3979 0.0184 0.03 0.13 0.23 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176032 NA NA NA NA NA 0.152 NA 3.9692 1255 19 13325229 13325229 G C intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA NA NA NA rs17846925 0.04 0.04 0.041 0.0529153 0.0308 0.0149 0.013 0.0923 0.09 0.03 0.02 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.997791 NA NA NA NA NA 0.072 NA 3.9692 1255 16 57017474 57017474 G A intronic CETP NA NA NA intronic ENSG00000087237 NA NA NA NA NA 16q13 NA Name=HNF4A_(H-171),HNF4G_(SC-6558),CTCF Name=11 NA rs289741 0.61 0.61 0.578 0.583866 0.6789 0.6905 0.7075 0.3638 0.5859 0.68 0.65 0.7 0.39 0.6554 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540116 NA NA 0.696512 0.417652 NA 0.659 NA 3.969188 1255 11 60285518 60285518 G A intronic MS4A13 NA NA NA intronic ENSG00000204979 NA NA NA NA NA 11q12.2 NA NA NA NA rs75015159 0.01 0.01 0.013 0.0125799 0.008 0.001 0.013 0.034 NA 0.01 NA 0.01 0.02 0.0105 0.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335478 NA NA 0.012567 0.022923 NA NA NA 3.968933 1255 12 53295063 53295063 T C intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs5019799 0.54 0.54 0.54 0.567292 0.5318 0.6042 0.6167 0.3986 0.7587 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.89196 NA NA 0.499371 0.410405 NA 0.391 NA 3.968829 1255 1 197091537 197091537 A T exonic ASPM NA synonymous SNV ASPM:NM_001206846:exon14:c.T3579A:p.S1193S,ASPM:NM_018136:exon14:c.T3579A:p.S1193S exonic ENSG00000066279 NA synonymous SNV ENSG00000066279:ENST00000367408:exon10:c.T1329A:p.S443S,ENSG00000066279:ENST00000294732:exon14:c.T3579A:p.S1193S,ENSG00000066279:ENST00000367409:exon14:c.T3579A:p.S1193S NA NA 1q31.3 NA NA NA NA rs4915337 0.82 0.82 0.793 0.782548 0.9125 1 0.8804 0.379 0.9008 0.92 1 0.9 0.4 0.8779 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277788 NA NA 0.907442 0.45665 NA 0.717 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5;CLNREVSTAT=single;CLNACC=RCV000020768.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512 3.9688246 1255 17 33513649 33513649 A G UTR3 UNC45B NM_001267052:c.*71A>G,NM_001033576:c.*71A>G,NM_173167:c.*71A>G NA NA UTR3 ENSG00000141161 ENST00000378449:c.*71A>G,ENST00000433649:c.*71A>G,ENST00000268876:c.*71A>G,ENST00000394570:c.*71A>G NA NA NA NA 17q12 NA NA NA NA rs3744366 0.5 0.5 0.532 0.507388 0.3648 0.5575 0.4135 0.6679 0.4519 0.37 0.58 0.4 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123303 NA NA NA NA NA 0.609 NA 3.9685334 1255 15 84700042 84700042 G A intronic ADAMTSL3 NA NA NA intronic ENSG00000156218 NA NA NA NA NA 15q25.2 NA NA NA NA rs79074742 0.0018 0.0018 0.002 0.00219649 0.008 NA 0.0029 NA 0.001 0.004 NA 0.0028 NA 0.0085 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428459 NA NA 0.015003 0.002724 NA 0.014 NA 3.968497 1255 5 150934284 150934284 T G intronic FAT2 NA NA NA intronic ENSG00000086570 NA NA NA NA NA 5q33.1 NA NA NA NA rs116811073 0.01 0.01 0.005 0.00239617 0.0089 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.009 0.014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382734 NA NA 0.013721 0.003404 NA 0.007 NA 3.968379 1255 1 6645903 6645903 A T intronic ZBTB48 NA NA NA intronic ENSG00000204859 NA NA NA NA NA 1p36.31 NA NA NA NA rs6697222 0.01 0.01 0.006 0.00838658 0.0318 NA 0.0072 0.0008 0.0041 0.03 NA 0.01 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449957 NA NA NA NA NA NA NA 3.9682 1255 1 236389454 236389454 T C intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs12023980 0.15 0.15 0.158 0.14377 0.0318 0.373 0.0778 0.1006 0.1278 0.03 0.4 0.06 0.1 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698342 NA NA NA NA NA 0.101 NA 3.9682 1255 1 236389500 236389500 T A intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs12023983 0.15 0.15 0.149 0.14377 0.0318 0.373 0.0778 0.1006 0.1278 0.03 0.4 0.06 0.1 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.467835 1.467835 NA NA NA NA 0.101 NA 3.9682 1255 1 236399752 236399752 T C intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs3768099 0.15 0.15 0.149 0.144968 0.0318 0.372 0.0778 0.1059 0.1278 0.03 0.4 0.06 0.1 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295865 NA NA NA NA NA 0.123 NA 3.9682 1255 1 236399772 236399772 C T intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs3768100 0.13 0.13 0.132 0.122604 0.0318 0.372 0.0648 0.0287 0.1268 0.03 0.4 0.05 0.04 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.209469 NA NA NA NA NA 0.094 NA 3.9682 1255 6 152470519 152470519 G T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.1 NA NA NA NA rs2813492 0.03 0.03 0.016 0.023762 0.0318 NA 0.0994 0.0008 0.0174 0.04 NA 0.09 NA NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036823 NA NA NA NA NA 0.022 NA 3.9682 1255 7 24905179 24905179 T C intronic OSBPL3 NA NA NA intronic ENSG00000070882 NA NA NA NA NA 7p15.3 NA NA NA NA rs41275967 0.03 0.03 0.018 0.0199681 0.0318 NA 0.0706 0.003 0.0153 0.04 NA 0.07 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472876 NA NA NA NA NA 0.007 NA 3.9682 1255 12 18865644 18865644 C A intronic PLCZ1 NA NA NA intronic ENSG00000139151 NA NA NA NA NA 12p12.3 NA NA NA NA rs117677700 0.02 0.02 0.012 0.0105831 0.0318 0.001 0.013 0.0023 0.0082 0.03 NA 0.01 0.01 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091567 NA NA NA NA NA 0.065 NA 3.9682 1255 16 20599507 20599507 C G intergenic ACSM2B,ACSM1 dist=11812;dist=35052 NA NA ncRNA_intronic ENSG00000260762 NA NA NA NA NA 16p12.3 NA NA NA NA rs141896208 0.02 0.02 0.012 0.0229633 0.0318 0.0268 0.0274 0.0038 0.0327 0.03 0.02 0.02 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299422 NA NA NA NA NA 0.007 NA 3.9682 1255 11 102816343 102816343 C G intronic MMP13 NA NA NA intronic ENSG00000137745 NA NA NA NA NA 11q22.2 NA NA NA NA rs3758853 0.06 0.06 0.063 0.072484 0.004 0.0992 0.0202 0.1604 0.0337 0.004 0.07 0.02 0.17 0.0257 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379635 NA NA 0.002327 0.137045 NA 0.094 NA 3.967973 1255 14 103923475 103923475 A G intronic MARK3 NA NA NA intronic ENSG00000075413 NA NA NA Score=655;Name=lod=613 NA 14q32.32 NA NA NA NA rs2273699 0.32 0.32 0.31 0.296526 0.3499 0.1528 0.245 0.3729 0.3231 0.38 0.18 0.28 0.43 0.3202 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.453143 NA NA 0.362023 0.337094 NA 0.283 NA 3.967877 1255 17 4646772 4646772 A G intronic ZMYND15 NA NA NA intronic ENSG00000141497 NA NA NA NA NA 17p13.2 NA NA NA NA rs73973614 0.08 0.08 0.091 0.0952476 0.002 NA 0.0303 0.3434 NA 0.0026 NA 0.03 0.31 0.0283 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.385067 NA NA 0.001977 0.297776 NA 0.08 NA 3.967723 1255 16 22376218 22376218 A T intronic CDR2 NA NA NA intronic ENSG00000140743 NA NA NA NA NA 16p12.2 NA NA NA NA rs118111122 0.01 0.01 0.008 0.0163738 0.007 0.0248 0.0014 0.0015 0.0481 0.01 0.03 0.0028 NA 0.0158 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.707465 1.707465 NA 0.009651 0.002959 NA 0.022 NA 3.967549 1255 17 73647139 73647139 A G UTR3 RECQL5 NM_001003716:c.*123T>C NA NA UTR3 ENSG00000108469 ENST00000420326:c.*123T>C NA NA NA NA 17q25.1 NA NA NA NA rs1661745 0.43 0.43 0.466 0.502995 0.3658 0.5109 0.4409 0.6566 0.4724 0.32 0.48 0.36 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124586 NA NA NA NA NA 0.087 NA 3.9675334 1255 2 26437255 26437255 G C intronic HADHA NA NA NA intronic ENSG00000084754 NA NA NA NA NA 2p23.3 NA NA NA NA rs113877517 0.02 0.02 0.014 0.0153754 0.0328 NA 0.0389 0.0038 0.0123 0.04 NA 0.05 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.18945 NA NA NA NA NA 0.007 NA 3.9672 1255 4 5747152 5747152 A G intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs16837617 0.05 0.05 0.055 0.0537141 0.0328 NA 0.0418 0.152 0.0061 0.03 NA 0.04 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130327 NA NA NA NA NA 0.072 NA 3.9672 1255 14 21058337 21058337 C T UTR5;UTR3 RNASE11;RNASE12 NM_145250:c.-5704G>A;NM_001024822:c.*102G>A NA NA ncRNA_UTR5 ENSG00000173464 NA NA NA NA NA 14q11.2 NA NA NA NA rs4981259 0.4 0.4 0.337 0.392372 0.5328 0.3492 0.4092 0.2239 0.5082 0.52 0.36 0.43 0.22 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293839 NA NA NA NA NA 0.449 NA 3.9672 1255 20 37518095 37518095 G A intronic PPP1R16B NA NA NA intronic ENSG00000101445 NA NA NA NA NA 20q11.23 NA NA NA NA rs77180789 0.02 0.02 0.022 0.028155 0.0328 0.001 0.0173 0.0454 0.0358 0.03 NA 0.02 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595504 NA NA NA NA NA 0.014 NA 3.9672 1255 21 43256442 43256442 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs75462889 0.02 0.02 0.017 0.0213658 0.0328 0.001 0.0331 0.0045 0.045 0.04 NA 0.04 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137426 NA NA NA NA NA 0.022 NA 3.9672 1255 4 156276289 156276289 C T exonic MAP9 NA synonymous SNV MAP9:NM_001039580:exon10:c.G1314A:p.V438V exonic ENSG00000164114 NA synonymous SNV ENSG00000164114:ENST00000311277:exon10:c.G1314A:p.V438V,ENSG00000164114:ENST00000433024:exon10:c.G1311A:p.V437V,ENSG00000164114:ENST00000515654:exon10:c.G1242A:p.V414V NA NA 4q32.1 NA NA NA NA rs2341894 0.75 0.75 0.766 0.739816 0.5616 0.9266 0.5533 0.9546 0.5726 0.58 0.93 0.55 0.93 0.5998 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153751 NA NA 0.538119 0.892628 NA 0.601 NA 3.9671476 1255 18 6890434 6890434 A G exonic ARHGAP28 NA synonymous SNV ARHGAP28:NM_001010000:exon13:c.A1263G:p.P421P exonic ENSG00000088756 NA synonymous SNV ENSG00000088756:ENST00000314319:exon12:c.A1263G:p.P421P,ENSG00000088756:ENST00000418986:exon12:c.A1263G:p.P421P,ENSG00000088756:ENST00000532996:exon12:c.A1209G:p.P403P,ENSG00000088756:ENST00000419673:exon13:c.A1263G:p.P421P,ENSG00000088756:ENST00000531294:exon13:c.A1248G:p.P416P,ENSG00000088756:ENST00000262227:exon14:c.A1584G:p.P528P,ENSG00000088756:ENST00000383472:exon14:c.A1740G:p.P580P,ENSG00000088756:ENST00000400091:exon14:c.A1740G:p.P580P NA NA 18p11.31 NA NA NA NA rs1116757 0.59 0.59 0.585 0.563099 0.5686 0.6052 0.5331 0.5719 0.5235 0.55 0.68 0.55 0.57 0.5692 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.224884 NA NA 0.56186 0.574217 NA 0.572 NA 3.9670066 1255 17 74272068 74272068 C T intronic QRICH2 NA NA NA intronic ENSG00000129646 NA NA NA NA NA 17q25.1 NA NA NA NA rs138950766 0.01 0.01 0.008 0.0091853 0.0119 NA 0.0072 0.0008 0.0286 0.01 NA 0.01 NA 0.0095 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265946 NA NA 0.011628 0.003177 NA NA NA 3.966972 1255 7 100552536 100552536 T C intergenic ACHE,MUC12 dist=58995;dist=60368 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.T1287C:p.S429S NA NA 7q22.1 NA NA NA NA rs73163759 NA NA NA 0.153355 0.0258 0.0149 0.0677 0.3691 0.1963 NA NA NA NA 0.5073 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104935 NA NA NA NA NA 0.051 NA 3.9669 1255 22 41282558 41282558 G A intronic XPNPEP3 NA NA NA intronic ENSG00000196236 NA NA NA NA NA 22q13.2 NA NA NA NA rs148023469 0.01 0.01 0.01 0.00259585 0.0099 NA 0.0014 0.0015 NA 0.01 NA NA 0.01 0.0083 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96003 NA NA 0.015 0.004773 NA NA NA 3.9668 1255 19 19387743 19387743 A C intronic SUGP1 NA NA NA intronic ENSG00000105705 NA NA NA NA NA 19p13.11 NA NA Name=3 NA rs2074550 0.41 0.41 0.42 0.463458 0.3111 0.3264 0.4524 0.6475 0.5204 0.3 0.33 0.44 0.66 0.3865 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718392 NA NA 0.335698 0.615751 NA 0.464 NA 3.966702 1255 1 197030201 197030201 T C exonic F13B NA synonymous SNV F13B:NM_001994:exon4:c.A456G:p.T152T exonic ENSG00000143278 NA synonymous SNV ENSG00000143278:ENST00000367412:exon4:c.A456G:p.T152T Score=309;Name=lod=24 NA 1q31.3 NA NA NA NA rs5997 0.82 0.82 0.776 0.783746 0.9125 1 0.8804 0.382 0.9029 0.92 1 0.9 0.41 0.8805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716491 NA NA 0.907071 0.461643 NA 0.58 NA 3.9665956 1255 16 24888710 24888710 T C intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs150243842 0.0046 0.0046 0.004 0.00279553 0.008 0.001 0.0014 NA 0.0041 0.01 NA 0.01 NA 0.0094 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309363 NA NA 0.016047 0.003414 NA NA NA 3.966553 1255 1 183616687 183616687 G A UTR3 APOBEC4 NM_203454:c.*126C>T NA NA UTR3 ENSG00000173627 ENST00000308641:c.*126C>T NA NA NA NA 1q25.3 NA NA NA NA rs1174656 0.25 0.25 0.237 0.233227 0.3668 0.0843 0.2968 0.1997 0.2495 0.36 0.08 0.33 0.22 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.171784 NA NA NA NA NA 0.297 NA 3.9665334 1255 6 30032495 30032495 A G UTR3 ZNRD1 NM_170783:c.*21A>G,NM_014596:c.*21A>G NA NA UTR3 ENSG00000066379 ENST00000332435:c.*21A>G,ENST00000376782:c.*21A>G,ENST00000359374:c.*21A>G,ENST00000376785:c.*21A>G NA NA NA NA 6p22.1 NA NA NA NA rs1048412 0.18 0.18 0.193 0.190895 0.0954 0.1885 0.1744 0.2988 0.1575 0.09 0.2 0.2 0.3 0.1517 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502318 NA NA 0.119786 0.255129 NA 0.167 NA 3.9664474 1255 6 110736610 110736610 T C intronic DDO NA NA NA intronic ENSG00000203797 NA NA NA NA NA 6q21 NA NA Name=2 NA rs9384742 0.69 0.69 0.713 0.716254 0.5129 0.8562 0.4352 0.9327 0.6881 0.51 0.87 0.47 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.288183 1.288183 NA 0.520742 0.87211 NA 0.688 NA 3.966358 1255 10 82896954 82896954 G A intergenic SH2D4B,NRG3 dist=490638;dist=738116 NA NA ncRNA_exonic ENSG00000226466 NA NA NA NA NA 10q23.1 NA NA NA NA rs12769310 0.02 0.02 0.016 0.0239617 0.0338 NA 0.0418 0.0333 0.0133 0.03 NA 0.05 0.02 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070062 NA NA NA NA NA 0.007 NA 3.9662 1255 3 29529846 29529846 G A intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs3773020 0.09 0.09 0.098 0.0938498 0.0338 0.0516 0.1167 0.1929 0.0491 0.04 0.06 0.1 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073995 NA NA NA NA NA 0.109 NA 3.9662 1255 3 57168154 57168154 G A intronic IL17RD NA NA NA intronic ENSG00000144730 NA NA NA NA NA 3p14.3 NA NA NA NA rs116627710 0.02 0.02 0.016 0.0205671 0.0338 0.0079 0.036 0.0008 0.0358 0.03 0.01 0.03 0.002 NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921377 NA NA NA NA NA 0.022 NA 3.9662 1255 6 17779730 17779730 C T intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs187226021 0.02 0.02 NA 0.00958466 0.0338 NA 0.013 NA 0.0051 0.04 NA 0.02 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759397 NA NA NA NA NA 0.014 NA 3.9662 1255 11 2549061 2549061 G C intronic KCNQ1 NA NA NA intronic ENSG00000053918 NA NA NA NA NA 11p15.5 NA NA NA NA rs28730663 0.08 0.08 0.063 0.0886581 0.0338 0.0437 0.0548 0.1906 0.0777 0.03 0.06 0.06 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911929 NA NA NA NA NA 0.051 NA 3.9662 1255 11 113846006 113846006 T C UTR5 HTR3A NM_213621:c.-24T>C,NM_000869:c.-24T>C NA NA UTR5 ENSG00000166736 ENST00000504030:c.-42T>C,ENST00000375498:c.-24T>C,ENST00000355556:c.-24T>C,ENST00000506841:c.-42T>C NA NA NA NA 11q23.2 NA Name=CTCF_(SC-5916),ZNF263,KAP1,c-Myc,E2F6,YY1_(C-20),TAF1,CTCF,Max Name=50 NA rs1062613 0.77 0.77 0.737 0.751797 0.7823 0.8532 0.8314 0.4992 0.9008 0.79 0.89 0.82 0.54 0.7964 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.380669 1.380669 NA 0.788524 0.547024 NA 0.746 NA 3.9661094 1255 8 100871741 100871741 C A intronic VPS13B NA NA NA intronic ENSG00000132549 NA NA NA NA NA 8q22.2 NA NA NA NA rs72676269 0.01 0.01 0.004 0.00339457 0.0129 NA 0.0058 NA NA 0.01 NA 0.01 NA 0.0092 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667507 NA NA 0.012093 0.004085 NA 0.058 NA 3.965807 1255 5 95732986 95732986 T C intronic PCSK1 NA NA NA ncRNA_intronic ENSG00000251314 NA NA NA NA NA 5q15 NA NA NA NA rs271920 0.35 0.35 0.355 0.35643 0.3678 0.2401 0.4121 0.4592 0.2863 0.35 0.26 0.44 0.4 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084383 NA NA NA NA NA 0.449 NA 3.9655333 1255 16 84600595 84600595 T C intronic COTL1 NA NA NA intronic ENSG00000103187 NA NA NA NA NA 16q24.1 NA NA Name=2 NA rs12929880 0.21 0.21 0.206 0.224042 0.3598 0.0327 0.1974 0.1936 0.3415 0.35 0.04 0.27 0.17 0.3087 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091789 NA NA 0.366163 0.205548 NA 0.275 NA 3.965337 1255 5 150712767 150712767 C T intronic SLC36A2 NA NA NA intronic ENSG00000186335 NA NA NA NA NA 5q33.1 NA NA NA NA rs77349378 0.01 0.01 0.004 0.00299521 0.0129 NA 0.0014 0.0008 NA 0.01 NA 0.01 0.002 0.0099 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600074 NA NA 0.011977 0.002724 NA NA NA 3.965223 1255 1 224484410 224484410 C A intronic NVL NA NA NA intronic ENSG00000143748 NA NA NA NA NA 1q42.11 NA NA NA NA rs16846214 0.15 0.15 0.156 0.178315 0.0348 0.1101 0.0677 0.4675 0.0838 0.03 0.1 0.07 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221086 NA NA NA NA NA 0.174 NA 3.9652 1255 7 76903217 76903217 T C intronic CCDC146 NA NA NA intronic ENSG00000135205 NA NA NA NA NA 7q11.23 NA NA NA NA rs7810561 0.08 0.08 0.089 0.0898562 0.0348 0.0595 0.0389 0.1853 0.0849 0.03 0.08 0.04 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024873 NA NA NA NA NA 0.072 NA 3.9652 1255 8 41555736 41555736 C T intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs55935493 0.05 0.05 0.051 0.0365415 0.0348 0.0407 0.0231 0.0643 0.0061 0.04 0.05 0.02 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322659 NA NA NA NA NA 0.123 NA 3.9652 1255 12 15813449 15813449 C T intronic EPS8 NA NA NA intronic ENSG00000151491 NA NA NA NA NA 12p12.3 NA NA NA NA rs146612691 0.02 0.02 0.014 0.014976 0.0348 NA 0.0115 0.003 0.0286 0.04 NA 0.01 0.0041 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623583 NA NA NA NA NA 0.029 NA 3.9652 1256 1 85279902 85279902 T C intronic LPAR3 NA NA NA intronic ENSG00000171517 NA NA NA NA NA 1p22.3 NA NA NA NA rs41289035 0.01 0.01 0.005 0.00599042 0.0159 NA 0.0144 0.0023 0.001 0.01 NA 0.01 0.002 0.0074 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860028 NA NA 0.011763 0.002273 NA 0.007 NA 3.964937 1256 4 48546796 48546796 A G intronic FRYL NA NA NA intronic ENSG00000075539 NA NA NA NA NA 4p11 NA NA NA NA rs78799039 0.01 0.01 0.009 0.00539137 0.0139 NA 0.0101 0.0038 0.001 0.02 NA 0.01 NA 0.009 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504442 NA NA 0.012417 0.001939 NA 0.007 NA 3.964683 1256 3 58384995 58384995 G A intronic PXK NA NA NA intronic ENSG00000168297 NA NA NA Score=676;Name=lod=747 NA 3p14.3 NA NA NA NA rs11712213 0.23 0.23 0.233 0.204273 0.3777 0.001 0.2839 0.2095 0.1718 0.36 NA 0.3 0.25 0.2844 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.037089 4.037089 NA 0.373256 0.214934 NA 0.319 NA 3.964644 1256 3 12641349 12641349 A G intronic RAF1 NA NA NA intronic ENSG00000132155 NA NA NA NA NA 3p25.2 NA NA NA NA rs5746226 0.0041 0.0041 0.002 0.00459265 0.0089 NA 0.0101 NA 0.0072 0.004 NA 0.02 NA 0.011 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350544 NA NA 0.015465 0.002497 NA NA NA 3.964635 1256 3 12641350 12641350 A G intronic RAF1 NA NA NA intronic ENSG00000132155 NA NA NA NA NA 3p25.2 NA NA NA NA rs5746225 0.0041 0.0041 0.002 0.00459265 0.0089 NA 0.0101 NA 0.0072 0.004 NA 0.02 NA 0.011 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.013409 NA NA 0.015581 0.002497 NA NA NA 3.964519 1256 7 31378933 31378933 A G intronic NEUROD6 NA NA NA intronic ENSG00000164600 NA NA NA Score=711;Name=lod=1033 NA 7p14.3 NA NA NA NA rs2233404 0.27 0.27 0.254 0.259984 0.3449 0.3046 0.3429 0.1135 0.2658 0.34 0.24 0.35 0.14 0.3224 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.962483 1.962483 NA 0.368206 0.152562 NA 0.283 NA 3.964494 1256 9 100971348 100971348 T C exonic TBC1D2 NA synonymous SNV TBC1D2:NM_001267572:exon3:c.A372G:p.A124A,TBC1D2:NM_001267571:exon9:c.A1752G:p.A584A,TBC1D2:NM_018421:exon9:c.A1752G:p.A584A exonic ENSG00000095383 NA synonymous SNV ENSG00000095383:ENST00000375063:exon3:c.A372G:p.A124A,ENSG00000095383:ENST00000342112:exon8:c.A1098G:p.A366A,ENSG00000095383:ENST00000375064:exon9:c.A1752G:p.A584A,ENSG00000095383:ENST00000375066:exon9:c.A1752G:p.A584A NA NA 9q22.33 NA NA NA NA rs3739666 0.6 0.6 0.615 0.599441 0.5706 0.498 0.5418 0.7731 0.5399 0.57 0.54 0.57 0.76 0.5711 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713008 NA NA 0.560479 0.745801 ID=COSM1458848;OCCURENCE=1(large_intestine) 0.522 NA 3.9644876 1256 7 75692927 75692927 C T intronic MDH2 NA NA NA intronic ENSG00000146701 NA NA NA NA NA 7q11.23 NA NA Name=23 NA rs1637037 0.53 0.53 0.535 0.547923 0.327 0.6071 0.4135 0.8064 0.4601 0.33 0.62 0.4 0.81 0.4059 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166971 NA NA 0.302674 0.708579 NA 0.63 NA 3.964426 1256 1 19403173 19403173 C T intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs137978878 0.01 0.01 0.01 0.0225639 0.0358 NA 0.0317 0.0008 0.0552 0.03 NA 0.04 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127152 NA NA NA NA NA NA NA 3.9642 1256 1 86870208 86870208 T C intergenic ODF2L,CLCA2 dist=8183;dist=19561 NA NA ncRNA_exonic ENSG00000231349 NA NA NA NA NA 1p22.3 NA NA NA NA rs116813580 0.02 0.02 0.011 0.0117812 0.0358 NA 0.013 0.0053 0.0072 0.04 NA 0.02 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329113 NA NA NA NA NA 0.007 NA 3.9642 1256 1 89319082 89319082 C T intronic GTF2B NA NA NA intronic ENSG00000137947 NA NA NA NA NA 1p22.2 NA NA NA NA rs60992421 0.09 0.09 0.092 0.105431 0.0358 NA 0.0346 0.3442 0.0133 0.04 NA 0.04 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155039 NA NA NA NA NA 0.196 NA 3.9642 1256 2 56977912 56977912 T G intergenic CCDC85A,VRK2 dist=364603;dist=1295865 NA NA downstream ENSG00000231570 NA NA NA Score=374;Name=lod=44 NA 2p16.1 NA NA NA NA rs977375 0.45 0.45 0.446 0.399361 0.5358 0.5546 0.3069 0.1982 0.4366 0.56 0.54 0.38 0.21 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498021 NA NA NA NA NA 0.543 NA 3.9642 1256 3 10042300 10042300 A G intergenic EMC3,LOC401052 dist=13778;dist=5802 NA NA ncRNA_intronic ENSG00000180385 NA NA NA NA NA 3p25.3 NA NA NA NA rs143953816 0.02 0.02 0.015 0.0177716 0.0358 NA 0.0461 0.0008 0.0204 0.04 NA 0.03 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.285044 2.285044 NA NA NA NA 0.007 NA 3.9642 1256 3 14223224 14223224 C T intronic LSM3 NA NA NA intronic ENSG00000170860 NA NA NA NA NA 3p25.1 NA NA NA NA rs3733170 0.13 0.13 0.122 0.140974 0.0358 0.4107 0.1138 0.0484 0.1155 0.04 0.36 0.1 0.03 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359122 NA NA NA NA NA 0.043 NA 3.9642 1256 9 119770621 119770621 A G intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs16934199 0.03 0.03 0.026 0.0351438 0.0358 NA 0.0173 0.0764 0.0276 0.03 NA 0.02 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429935 NA NA NA NA NA 0.022 NA 3.9642 1256 12 48188898 48188898 C T intronic HDAC7 NA NA NA intronic ENSG00000061273 NA NA NA NA NA 12q13.11 NA NA NA NA rs17122311 0.09 0.09 0.041 0.106629 0.0358 0.0883 0.3184 0.0053 0.1851 0.04 0.1 0.25 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821713 NA NA NA NA NA 0.08 NA 3.9642 1256 12 58157281 58157281 T G intronic CYP27B1 NA NA NA intronic ENSG00000111012 NA NA NA NA NA 12q14.1 NA NA NA NA rs4646537 0.04 0.04 0.033 0.0445288 0.0358 0.0238 0.0274 0.0877 0.0286 0.04 0.02 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848882 NA NA NA NA NA 0.014 NA 3.9642 1256 12 58163265 58163265 C T intronic METTL1 NA NA NA intronic ENSG00000037897 NA NA NA NA NA 12q14.1 NA NA NA NA rs77194942 0.04 0.04 0.033 0.0433307 0.0358 0.0198 0.0274 0.087 0.0276 0.04 0.02 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.70006 NA NA NA NA NA 0.014 NA 3.9642 1256 19 19767747 19767747 G C intronic ATP13A1 NA NA NA intronic ENSG00000105726 NA NA NA NA NA 19p13.11 NA NA NA NA rs45501395 0.01 0.01 0.009 0.00599042 0.0129 NA 0.0115 NA 0.0092 0.02 NA 0.02 NA 0.0111 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.750394 2.750394 NA 0.011988 0.003409 NA NA NA 3.964012 1256 8 6728198 6728198 C T UTR3 DEFB1 NM_005218:c.*5G>A NA NA ncRNA_UTR3 ENSG00000164825 NA NA NA NA NA 8p23.1 NA NA NA NA rs1047031 0.21 0.21 0.166 0.196486 0.167 0.4117 0.255 0.0106 0.2147 0.19 0.38 0.23 0.02 0.1994 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447167 NA NA 0.169651 0.037676 ID=COSN168266;OCCURENCE=1(large_intestine),1(endometrium) 0.116 NA 3.963949 1256 19 35616016 35616016 G A UTR3 LGI4 NM_139284:c.*81C>T NA NA UTR3 ENSG00000153902 ENST00000392225:c.*287C>T,ENST00000310123:c.*81C>T,ENST00000587780:c.*1056C>T NA NA NA NA 19q13.12 NA NA NA NA rs1048690 0.3 0.3 0.302 0.342252 0.3698 0.253 0.2493 0.2935 0.5378 0.38 0.23 0.23 0.32 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642902 NA NA NA NA NA 0.362 NA 3.9635334 1256 22 23077555 23077555 T C intergenic GGTLC2,MIR650 dist=87187;dist=87715 NA NA exonic ENSG00000211664 NA nonsynonymous SNV ENSG00000211664:ENST00000390310:exon2:c.T332C:p.L111S NA NA 22q11.22 NA Name=PU.1 NA NA rs4822296 0.77 0.77 0.777 0.792133 0.6153 0.9157 0.7579 0.8956 0.7311 0.6 0.92 0.74 0.88 0.6694 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.082509 NA 1 0.585158 0.857333 NA 0.688 NA 3.9634754 1256 9 37428578 37428578 C T intronic GRHPR NA NA NA intronic ENSG00000137106 NA NA NA NA NA 9p13.2 NA NA NA NA rs41303225 0.01 0.01 0.006 0.00499201 0.0119 0.001 0.0086 NA 0.0061 0.01 0.0017 0.0028 NA 0.0099 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93404 NA NA 0.014884 0.002497 NA 0.007 NA 3.963316 1256 19 42489516 42489516 A C exonic ATP1A3 NA synonymous SNV ATP1A3:NM_001256213:exon7:c.T699G:p.T233T,ATP1A3:NM_001256214:exon7:c.T705G:p.T235T,ATP1A3:NM_152296:exon7:c.T666G:p.T222T exonic ENSG00000105409 NA synonymous SNV ENSG00000105409:ENST00000302102:exon7:c.T666G:p.T222T,ENSG00000105409:ENST00000441343:exon7:c.T666G:p.T222T,ENSG00000105409:ENST00000543770:exon7:c.T699G:p.T233T,ENSG00000105409:ENST00000545399:exon7:c.T705G:p.T235T,ENSG00000105409:ENST00000602133:exon7:c.T576G:p.T192T NA NA 19q13.2 Score=832;Name=V$AHRARNT_01 NA NA NA rs2217342 0.91 0.91 0.913 0.901558 0.9125 0.876 0.889 0.9955 0.7986 0.92 0.88 0.86 0.99 0.8894 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.228711 NA NA 0.901512 0.984793 NA 0.935 NA 3.9632546 1256 2 231314190 231314190 A G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs75804297 0.02 0.02 0.017 0.0141773 0.0368 NA 0.0317 0.0015 0.0102 0.04 NA 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148102 NA NA NA NA NA 0.051 NA 3.9632 1256 4 102004154 102004154 C T intronic PPP3CA NA NA NA intronic ENSG00000138814 NA NA NA NA NA 4q24 NA NA NA NA rs111377582 0.02 0.02 0.02 0.0225639 0.0368 NA 0.0331 0.0023 0.0511 0.03 NA 0.04 0.01 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306082 NA NA NA NA NA 0.043 NA 3.9632 1256 7 138329658 138329658 G A intronic SVOPL NA NA NA intronic ENSG00000157703 NA NA NA NA NA 7q34 NA NA NA NA rs28367131 0.16 0.16 0.175 0.196885 0.0368 0.1944 0.1066 0.3775 0.184 0.04 0.21 0.08 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082829 NA NA NA NA NA 0.246 NA 3.9632 1256 11 8974942 8974942 G C intronic TMEM9B NA NA NA intronic ENSG00000175348 NA NA NA NA NA 11p15.4 NA NA NA NA rs117002418 0.02 0.02 0.016 0.0133786 0.0368 NA 0.0173 0.0008 0.0174 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96646 NA NA NA NA NA NA NA 3.9632 1256 20 31767508 31767508 A G intronic BPIFA2 NA NA NA intronic ENSG00000131050 NA NA NA NA NA 20q11.21 NA NA NA NA rs1075436 0.09 0.09 0.093 0.103435 0.004 0.0317 0.0317 0.348 NA 0.01 0.03 0.04 0.33 0.0311 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11562 NA NA 0.001977 0.284612 NA 0.094 NA 3.962923 1256 21 43716241 43716241 A G intronic ABCG1 NA NA NA intronic ENSG00000160179 NA NA NA NA NA 21q22.3 NA NA NA NA rs11910928 0.09 0.09 0.1 0.120407 0.001 NA 0.0389 0.4334 0.002 0.0013 NA 0.04 0.39 0.0348 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410761 NA NA 0.001279 0.352474 NA 0.138 NA 3.962921 1256 14 23865885 23865885 G A intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA Name=Resting heart rate 14q11.2 NA NA NA NA rs452036 0.35 0.35 0.369 0.367812 0.336 0.1577 0.2839 0.6362 0.3139 0.33 0.15 0.33 0.63 0.3384 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242279 NA NA 0.362791 0.608715 NA 0.391 NA 3.962809 1256 20 48744742 48744742 G C intronic TMEM189,TMEM189-UBE2V1 NA NA NA intronic ENSG00000124208,ENSG00000240849 NA NA NA NA NA 20q13.13 NA NA NA NA rs138028944 NA NA NA 0.00259585 0.0089 NA 0.0043 NA 0.001 NA NA NA NA 0.0132 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976657 NA NA 0.015116 0.003631 NA NA NA 3.962784 1256 17 10356816 10356816 C G intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs3744557 0.52 0.52 0.486 0.533347 0.3708 0.8621 0.5187 0.3442 0.6278 0.38 0.87 0.5 0.33 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.163134 NA NA NA NA NA 0.601 NA 3.9625333 1256 2 44559529 44559529 C T intronic PREPL NA NA NA intronic ENSG00000138078 NA NA NA NA NA 2p21 NA NA NA NA rs151295692 0.02 0.02 0.014 0.0115815 0.0378 0.001 0.013 0.0023 0.0072 0.03 0.0017 0.02 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121216 NA NA NA NA NA 0.014 NA 3.9622 1256 3 48456870 48456870 T G intronic PLXNB1 NA NA NA intronic ENSG00000164050 NA NA NA NA NA 3p21.31 NA NA NA NA rs115869055 0.02 0.02 0.014 0.0101837 0.0378 NA 0.0173 NA 0.001 0.04 NA 0.02 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525341 NA NA NA NA NA 0.036 NA 3.9622 1256 8 119938635 119938635 G A intronic TNFRSF11B NA NA NA intronic ENSG00000164761 NA NA NA NA NA 8q24.12 NA NA NA NA rs11573931 0.02 0.02 0.017 0.0119808 0.0378 NA 0.0231 0.0015 0.0041 0.04 NA 0.03 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061473 NA NA NA NA NA NA NA 3.9622 1256 11 68846578 68846578 G A intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs74685061 0.01 0.01 0.013 0.0103834 0.0378 NA 0.0159 0.0015 0.001 0.03 NA 0.02 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059535 NA NA NA NA NA NA NA 3.9622 1256 14 20823212 20823212 A G intronic PARP2 NA NA NA intronic ENSG00000129484 NA NA NA NA NA 14q11.2 NA NA NA NA rs1760914 0.13 0.13 0.141 0.159345 0.0378 0.1944 0.1311 0.2474 0.1493 0.03 0.17 0.11 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770061 NA NA NA NA NA 0.072 NA 3.9622 1256 19 6679578 6679578 G A intronic C3 NA NA NA intronic ENSG00000125730 NA NA NA NA NA 19p13.3 NA NA NA NA rs11569560 0.03 0.03 0.018 0.0267572 0.0378 0.006 0.0202 0.0151 0.0573 0.04 0.01 0.02 0.03 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.39432 2.39432 NA NA NA NA 0.029 NA 3.9622 1256 20 25027587 25027587 G C intronic ACSS1 NA NA NA intronic ENSG00000154930 NA NA NA NA NA 20p11.21 NA NA NA NA rs45574242 NA NA 0.096 0.0804712 0.0378 0.2302 0.0591 0.0378 0.0429 NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.966502 1.966502 NA NA NA NA 0.029 NA 3.9622 1256 20 30507554 30507554 G T intronic TTLL9 NA NA NA intronic ENSG00000131044 NA NA NA NA NA 20q11.21 NA NA NA NA rs74399667 0.06 0.06 0.051 0.0654952 0.0378 NA 0.0476 0.171 0.0317 0.04 NA 0.07 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113424 NA NA NA NA NA 0.051 NA 3.9622 1256 7 23358880 23358880 G T intronic IGF2BP3 NA NA NA intronic ENSG00000136231 NA NA NA NA NA 7p15.3 NA NA NA NA rs117151817 0.01 0.01 0.007 0.00638978 0.0119 NA 0.0216 0.0008 0.0041 0.01 NA 0.01 NA 0.0093 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074558 NA NA 0.01686 0.003858 NA 0.014 NA 3.96194 1256 9 5720172 5720172 C G intronic KIAA1432 NA NA NA ncRNA_intronic ENSG00000225408 NA NA NA NA NA 9p24.1 NA NA Name=7 NA rs10758700 0.51 0.51 0.463 0.495208 0.4344 0.8591 0.4856 0.1815 0.6135 0.46 0.87 0.5 0.17 0.4956 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750361 NA NA 0.441395 0.216977 NA 0.435 NA 3.9619383 1256 10 114169190 114169190 C A intronic ACSL5 NA NA NA ncRNA_exonic ENSG00000232934 NA NA NA NA NA 10q25.2 NA NA NA NA rs3736947 0.35 0.35 0.299 0.34385 0.3718 0.5605 0.4424 0.0242 0.454 0.38 0.54 0.42 0.03 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030316 NA NA NA NA NA 0.355 NA 3.9615333 1256 14 22315212 22315212 A G intergenic OR4E2,DAD1 dist=180974;dist=718595 NA NA exonic ENSG00000211786 NA synonymous SNV ENSG00000211786:ENST00000390434:exon2:c.A150G:p.P50P NA NA 14q11.2 NA NA NA NA rs2075488 0.3 0.3 0.281 0.329872 0.1491 0.5298 0.255 0.3321 0.3599 0.15 0.51 0.23 0.35 0.2394 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068055 NA NA 0.150107 0.283932 NA 0.225 NA 3.961393 1256 16 75270721 75270721 C A intronic BCAR1 NA NA NA intronic ENSG00000050820 NA NA NA NA NA 16q23.1 Score=858;Name=V$AHRARNT_01 NA NA NA rs2278020 0.52 0.52 0.506 0.539337 0.3141 0.8433 0.3919 0.5582 0.5368 0.32 0.83 0.41 0.54 0.4169 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338642 NA NA 0.307668 0.524566 NA 0.514 NA 3.961332 1256 1 152944594 152944594 C T exonic SPRR4 NA synonymous SNV SPRR4:NM_173080:exon2:c.C228T:p.S76S exonic ENSG00000184148 NA synonymous SNV ENSG00000184148:ENST00000328051:exon2:c.C228T:p.S76S NA NA 1q21.3 NA NA NA NA rs3170863 0.64 0.64 0.681 0.6252 0.5656 0.6319 0.4986 0.8306 0.4918 0.56 0.66 0.55 0.81 0.5686 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546088 NA NA 0.571163 0.777349 NA 0.594 NA 3.9613036 1256 3 118945614 118945614 G A intronic B4GALT4 NA NA NA ncRNA_intronic ENSG00000240254 NA NA NA NA NA 3q13.32 NA NA NA NA rs3752376 0.12 0.12 0.115 0.119409 0.1064 0.256 0.0749 0.0454 0.1237 0.1 0.25 0.07 0.04 0.1313 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823441 NA NA 0.134419 0.060372 NA 0.094 NA 3.9612143 1256 3 112760287 112760287 A T intergenic C3orf17,BOC dist=21732;dist=171088 NA NA ncRNA_exonic ENSG00000243483 NA NA NA NA NA 3q13.2 NA NA NA NA rs13324321 0.02 0.02 0.014 0.0131789 0.0388 NA 0.0288 0.0023 0.0041 0.04 NA 0.04 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.908587 NA NA NA NA NA 0.072 NA 3.9612 1256 15 89503335 89503335 C G intergenic MFGE8,ABHD2 dist=46672;dist=128046 NA NA ncRNA_exonic ENSG00000259489 NA NA NA NA NA 15q26.1 NA NA NA NA rs16942530 0.08 0.08 0.069 0.0722843 0.0388 0.1637 0.1455 0.028 0.0204 0.04 0.17 0.11 0.03 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788849 NA NA NA NA NA 0.051 NA 3.9612 1256 3 48205625 48205625 T C intronic CDC25A NA NA NA intronic ENSG00000164045 NA NA NA NA NA 3p21.31 NA NA NA NA rs41290676 0.02 0.02 0.016 0.0119808 0.0388 NA 0.0173 0.0045 0.0031 0.03 NA 0.03 0.01 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566338 NA NA NA NA NA 0.014 NA 3.9612 1256 6 151694504 151694504 A G intronic ZBTB2 NA NA NA intronic ENSG00000181472 NA NA NA NA NA 6q25.1 NA NA NA NA rs9479023 0.13 0.13 0.149 0.123203 0.0388 0.1667 0.0346 0.2519 0.0542 0.04 0.16 0.05 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16217 NA NA NA NA NA 0.094 NA 3.9612 1256 8 145625953 145625953 C T intronic CPSF1 NA NA NA intronic ENSG00000071894 NA NA NA NA NA 8q24.3 NA NA NA NA rs145477989 0.01 0.01 0.006 0.0135783 0.0388 NA 0.0086 NA 0.0235 0.04 NA 0.01 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.320265 NA NA NA NA NA 0.022 NA 3.9612 1256 12 69109344 69109344 G T intronic NUP107 NA NA NA intronic ENSG00000111581 NA NA NA NA NA 12q15 NA NA NA NA rs74332187 0.02 0.02 0.013 0.0171725 0.0388 NA 0.0274 0.0008 0.0276 0.04 NA 0.03 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649842 NA NA NA NA NA 0.007 NA 3.9612 1256 18 63489243 63489243 C T intronic CDH7 NA NA NA intronic ENSG00000081138 NA NA NA NA NA 18q22.1 NA NA NA NA rs28722899 0.08 0.08 0.081 0.114217 0.0388 0.0169 0.085 0.2345 0.1503 0.04 0.01 0.06 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679029 NA NA NA NA NA 0.058 NA 3.9612 1256 11 1213177 1213177 C T intergenic MUC2,MUC5B dist=108760;dist=31118 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=50816;dist=31119 NA NA NA NA 11p15.5 NA NA Name=35 NA rs74046246 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3723 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176238 NA NA NA NA NA 0.022 NA 3.9610334 1256 1 229599439 229599439 A C intronic NUP133 NA NA NA intronic ENSG00000069248 NA NA NA NA NA 1q42.13 NA NA NA NA rs16849788 0.06 0.06 0.065 0.0770767 0.006 0.003 0.0259 0.2625 0.0123 0.0013 NA 0.03 0.22 0.0278 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.672309 1.672309 NA 0.005233 0.217658 NA 0.072 NA 3.960967 1256 16 107162 107162 C G UTR3 SNRNP25 NM_024571:c.*19C>G NA NA UTR3 ENSG00000161981 ENST00000293861:c.*19C>G,ENST00000383018:c.*19C>G,ENST00000397876:c.*212C>G NA NA NA NA 16p13.3 NA NA NA NA rs10266 0.12 0.12 0.133 0.138379 0.1243 NA 0.1182 0.3154 0.0706 0.12 NA 0.1 0.27 0.1196 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491198 NA NA 0.128488 0.283704 NA 0.145 NA 3.9609454 1256 16 56701798 56701798 G C intronic MT1G NA NA NA intronic ENSG00000125144 NA NA NA NA NA 16q13 NA NA NA NA rs72784737 0.01 0.01 0.008 0.00658946 0.0199 NA 0.0058 NA 0.0092 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295425 NA NA 0.01917 0.001445 NA 0.051 NA 3.96093 1256 16 4562707 4562707 C T intronic CDIP1 NA NA NA intronic ENSG00000089486 NA NA NA NA NA 16p13.3 NA NA NA NA rs117229454 0.01 0.01 0.006 0.00678914 0.0159 NA 0.0202 NA 0.0041 0.02 NA 0.01 0.002 0.0118 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008374 NA NA 0.011401 0.000701 NA 0.007 NA 3.960899 1256 12 58017701 58017701 T G intronic SLC26A10 NA NA NA intronic ENSG00000135502 NA NA NA NA NA 12q13.3 NA Name=Pol2 NA NA rs7314152 0.44 0.44 0.414 0.466853 0.3181 0.5883 0.3674 0.4342 0.6094 0.34 0.65 0.34 0.45 0.4068 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.350519 1.350519 NA 0.314302 0.42828 NA 0.428 NA 3.960798 1256 17 55189986 55189986 G C intronic AKAP1 NA NA NA intronic ENSG00000121057 NA NA NA NA NA 17q22 NA NA NA NA rs61751973 0.01 0.01 0.008 0.00958466 0.0189 NA 0.0086 NA 0.0235 0.02 NA 0.01 NA 0.0114 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309006 NA NA 0.00907 0.002043 NA 0.014 NA 3.96063 1256 16 23768481 23768481 C T intronic CHP2 NA NA NA intronic ENSG00000166869 NA NA NA NA NA 16p12.2 NA NA NA NA rs118109714 0.01 0.01 0.006 0.00579073 0.0159 NA 0.0058 NA 0.0092 0.01 NA 0.01 NA 0.01 0.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450473 NA NA 0.013488 0.002276 NA NA NA 3.960612 1256 2 183818091 183818091 C T intronic NCKAP1 NA NA NA intronic ENSG00000061676 NA NA NA NA NA 2q32.1 NA NA NA NA rs72886576 0.0046 0.0046 0.004 0.00379393 0.0129 0.001 0.0058 NA 0.001 0.01 0.0017 0.01 NA 0.0097 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184512 NA NA 0.01686 0.004312 NA 0.007 NA 3.96054 1256 9 91978932 91978932 G T intronic SEMA4D NA NA NA UTR5 ENSG00000187764 ENST00000420101:c.-30C>A NA NA NA NA 9q22.2 NA NA NA NA rs45544232 0.03 0.03 0.033 0.0367412 0.0706 NA 0.0346 0.003 0.0869 0.07 NA 0.04 0.01 0.0646 0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.226794 NA NA 0.071163 0.013845 NA 0.036 NA 3.9603037 1256 13 42144590 42144590 C G intronic VWA8 NA NA NA intronic ENSG00000102763 NA NA NA NA NA 13q14.11 NA NA NA NA rs9566792 0.05 0.05 0.045 0.0449281 0.007 0.1161 0.0058 0.0522 0.0286 0.01 0.11 0.01 0.07 0.0228 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.51274 1.51274 NA 0.009911 0.032715 NA 0.014 NA 3.960289 1256 1 32156722 32156722 G A intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA Name=GR NA NA rs10914467 0.32 0.32 0.329 0.290935 0.5328 0.124 0.2824 0.2587 0.2638 0.52 0.09 0.35 0.26 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639563 NA NA 0.506914 0.277457 NA 0.333 NA 3.960286 1256 1 20469854 20469854 G A intronic PLA2G2F NA NA NA intronic ENSG00000158786 NA NA NA NA NA 1p36.12 NA NA NA NA rs12745152 0.02 0.02 0.009 0.0113818 0.0398 NA 0.0086 0.0015 0.0092 0.04 NA 0.01 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121415 NA NA NA NA NA NA NA 3.9602 1256 1 43213285 43213285 C T intronic LEPRE1 NA NA NA intronic ENSG00000117385 NA NA NA NA NA 1p34.2 NA NA NA NA rs72661349 0.05 0.05 0.05 0.0551118 0.0398 0.001 0.0389 0.1127 0.0603 0.04 NA 0.05 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059494 NA NA NA NA NA 0.058 NA 3.9602 1256 4 38990336 38990336 T C intronic TMEM156 NA NA NA intronic ENSG00000121895 NA NA NA NA NA 4p14 NA NA NA NA rs75089163 0.07 0.07 0.048 0.0832668 0.0398 0.0734 0.111 0.09 0.1094 0.04 0.06 0.12 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17406 NA NA NA NA NA 0.065 NA 3.9602 1256 16 19651251 19651251 T G intronic C16orf62 NA NA NA intronic ENSG00000103544 NA NA NA NA NA 16p12.3 NA NA NA NA rs12935562 0.07 0.07 0.077 0.0756789 0.0398 0.0119 0.0764 0.1664 0.0552 0.03 0.02 0.07 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073904 NA NA NA NA NA 0.116 NA 3.9602 1256 19 5749070 5749070 C T intronic CATSPERD NA NA NA intronic ENSG00000174898 NA NA NA NA NA 19p13.3 NA NA Name=12 NA rs58136456 0.41 0.41 0.404 0.364217 0.3539 0.6647 0.4352 0.1657 0.2832 0.34 0.7 0.44 0.16 0.3603 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138661 NA NA 0.325678 0.174369 NA 0.362 NA 3.960122 1256 8 41580607 41580607 T C intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA Name=8 NA rs7826127 0.35 0.35 0.363 0.367612 0.3519 0.2589 0.2939 0.5477 0.3047 0.35 0.24 0.3 0.52 0.3375 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796685 NA NA 0.350581 0.491829 ID=COSN168325;OCCURENCE=1(large_intestine) 0.391 NA 3.960019 1256 1 224586334 224586334 A G intronic WDR26 NA NA NA intronic ENSG00000162923 NA NA NA NA NA 1q42.11 NA NA NA NA rs73125526 0.08 0.08 0.08 0.0952476 0.005 NA 0.0432 0.3336 0.001 0.0013 NA 0.04 0.34 0.0307 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.262976 2.262976 NA 0.004317 0.288444 NA 0.145 NA 3.959983 1256 2 85852859 85852859 A G intronic USP39 NA NA NA intronic ENSG00000168883 NA NA NA NA NA 2p11.2 NA NA NA NA rs115784820 0.01 0.01 0.004 0.00519169 0.0109 NA 0.0144 0.0015 0.0031 0.01 NA 0.01 0.0041 0.0126 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145962 NA NA 0.016628 0.003177 NA NA NA 3.959872 1256 22 49103499 49103499 C T intronic FAM19A5 NA NA NA intronic ENSG00000219438 NA NA NA NA NA 22q13.32 NA NA NA NA rs76309472 0.08 0.08 0.097 0.0920527 0.007 0.0774 0.013 0.2587 0.0256 0.01 0.08 0.01 0.27 0.0306 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.733271 NA NA 0.002599 0.197862 NA 0.087 NA 3.959801 1256 1 17720391 17720391 G A intronic PADI6 NA NA NA ncRNA_intronic ENSG00000256049 NA NA NA NA NA 1p36.13 NA NA NA NA rs6678552 0.31 0.31 0.291 0.318091 0.3738 0.1706 0.3646 0.3275 0.3671 0.39 0.17 0.37 0.33 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556548 NA NA NA NA NA 0.304 NA 3.9595333 1256 5 140554006 140554006 C G exonic PCDHB7 NA synonymous SNV PCDHB7:NM_018940:exon1:c.C1590G:p.R530R exonic ENSG00000113212 NA synonymous SNV ENSG00000113212:ENST00000231137:exon1:c.C1590G:p.R530R NA NA 5q31.3 NA NA NA NA rs2907329 0.61 0.61 0.61 0.631589 0.5477 0.6716 0.6527 0.6884 0.5849 0.54 0.66 0.6 0.66 0.5957 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338608 NA NA 0.563837 0.65547 NA 0.312 NA 3.9594296 1256 4 99397658 99397658 A G intronic TSPAN5 NA NA NA intronic ENSG00000168785 NA NA NA NA NA 4q23 NA NA NA NA rs17027617 0.05 0.05 0.049 0.0567093 0.007 NA 0.0245 0.1838 0.0174 0.01 NA 0.03 0.17 0.0232 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873806 NA NA 0.010581 0.14571 NA 0.043 NA 3.959219 1256 1 38080065 38080065 C A intronic RSPO1 NA NA NA intronic ENSG00000169218 NA NA NA NA NA 1p34.3 NA NA NA NA rs11588571 0.02 0.02 0.017 0.0205671 0.0408 0.0129 0.0173 0.0023 0.0348 0.04 0.01 0.02 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109139 NA NA NA NA NA 0.014 NA 3.9592 1256 6 52303048 52303048 G T intronic EFHC1 NA NA NA intronic ENSG00000096093 NA NA NA NA NA 6p12.2 NA NA NA NA rs539295 0.07 0.07 0.079 0.0722843 0.0408 NA 0.0317 0.2194 0.0092 0.04 NA 0.03 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.510028 NA NA NA NA NA 0.145 NA 3.9592 1256 7 156516956 156516956 T C intronic LMBR1 NA NA NA intronic ENSG00000105983 NA NA NA NA NA 7q36.3 NA NA NA NA rs10949601 0.02 0.02 0.01 0.0205671 0.0408 0.002 0.0591 0.0045 0.0133 0.04 0.0017 0.06 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063708 NA NA NA NA NA 0.051 NA 3.9592 1256 9 131554705 131554705 C T intronic TBC1D13 NA NA NA intronic ENSG00000107021 NA NA NA NA NA 9q34.11 NA NA NA NA rs3750322 0.04 0.04 0.03 0.0391374 0.0408 0.0526 0.0303 0.0378 0.0317 0.04 0.06 0.04 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304955 NA NA NA NA NA 0.058 NA 3.9592 1256 9 133505888 133505888 T C intronic FUBP3 NA NA NA intronic ENSG00000107164 NA NA NA NA NA 9q34.12 NA NA NA NA rs11791722 0.03 0.03 0.02 0.0203674 0.0408 0.0258 0.0274 0.003 0.0123 0.04 0.03 0.03 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365111 NA NA NA NA NA 0.007 NA 3.9592 1256 11 108124486 108124486 T G intronic ATM NA NA NA intronic ENSG00000149311 NA NA NA NA NA 11q22.3 NA NA NA NA rs4987951 0.02 0.02 0.009 0.0147764 0.0408 0.002 0.0187 NA 0.0184 0.04 0.0035 0.03 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419524 NA NA NA NA NA NA NA 3.9592 1256 22 32754500 32754500 C G intronic RFPL3 NA NA NA intronic ENSG00000128276 NA NA NA NA NA 22q12.3 NA NA NA NA rs5754006 0.16 0.16 0.109 0.144569 0.0408 0.4583 0.0893 0.0265 0.1268 0.04 0.46 0.1 0.02 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777603 NA NA NA NA NA 0.08 NA 3.9592 1256 22 32754561 32754561 C G intronic RFPL3 NA NA NA intronic ENSG00000128276 NA NA NA NA NA 22q12.3 NA NA NA NA rs5754007 0.16 0.16 0.111 0.145767 0.0408 0.4583 0.0908 0.0303 0.1268 0.04 0.45 0.1 0.02 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.332861 NA NA NA NA NA 0.08 NA 3.9592 1256 4 68935672 68935672 G T ncRNA_intronic LOC550113 NA NA NA ncRNA_intronic ENSG00000248049 NA NA NA NA NA 4q13.2 NA NA NA NA rs12504120 0.23 0.23 0.221 0.242612 0.2664 0.1349 0.4179 0.2163 0.2403 0.27 0.13 0.37 0.2 0.2393 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.573325 1.573325 NA 0.20186 0.189146 NA 0.167 NA 3.9591066 1256 10 104163569 104163569 G A intronic PSD NA NA NA intronic ENSG00000059915 NA NA NA NA NA 10q24.32 NA Name=Pol2-4H8,ZNF263 NA NA rs11191283 0.25 0.25 0.208 0.261581 0.3569 0.1925 0.3487 0.0461 0.4642 0.34 0.2 0.36 0.07 0.3419 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.905954 NA NA 0.342289 0.092601 NA 0.283 NA 3.958911 1256 15 75047426 75047426 C T exonic CYP1A2 NA synonymous SNV CYP1A2:NM_000761:exon7:c.C1548T:p.N516N exonic ENSG00000140505 NA synonymous SNV ENSG00000140505:ENST00000343932:exon7:c.C1548T:p.N516N NA NA 15q24.1 NA NA NA NA rs2470890 0.32 0.32 0.296 0.236222 0.5964 0.1637 0.3271 0.028 0.1575 0.59 0.16 0.38 0.03 0.4574 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287791 NA NA 0.65398 0.124488 NA 0.391 NA 3.9588866 1256 1 197070815 197070815 T C exonic ASPM NA synonymous SNV ASPM:NM_018136:exon18:c.A7566G:p.L2522L exonic ENSG00000066279 NA synonymous SNV ENSG00000066279:ENST00000367409:exon18:c.A7566G:p.L2522L NA NA 1q31.3 NA NA NA NA rs1412640 0.85 0.85 0.819 0.815895 0.9125 1 0.8934 0.497 0.9029 0.92 1 0.91 0.53 0.8876 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96108 NA NA 0.907726 0.551294 NA 0.739 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5;CLNREVSTAT=single;CLNACC=RCV000020792.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512 3.9588406 1256 9 33887010 33887010 T A intronic UBE2R2 NA NA NA intronic ENSG00000107341 NA NA NA NA NA 9p13.3 NA NA NA NA rs12553078 0.01 0.01 NA 0.0135783 0.0169 NA 0.0058 0.0015 0.046 0.01 NA 0.01 0.002 0.0205 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001837 NA NA 0.003841 0 NA NA NA 3.958759 1256 1 118492527 118492527 G A intronic WDR3 NA NA NA intronic ENSG00000065183 NA NA NA NA NA 1p12 NA NA NA NA rs2295629 0.19 0.19 0.198 0.232827 0.0417 0.3839 0.0821 0.3457 0.228 0.03 0.36 0.06 0.35 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.743644 NA NA NA NA ID=COSN163200;OCCURENCE=1(breast) 0.152 NA 3.9583 1256 3 100057846 100057846 C T intronic NIT2 NA NA NA intronic ENSG00000114021 NA NA NA NA NA 3q12.2 NA NA NA NA rs1214381 0.28 0.28 0.289 0.269768 0.0417 0.5179 0.2032 0.4289 0.0808 0.04 0.5 0.21 0.46 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399074 NA NA NA NA NA 0.21 NA 3.9583 1256 3 100058102 100058102 G A intronic NIT2 NA NA NA intronic ENSG00000114021 NA NA NA NA NA 3q12.2 NA NA NA NA rs166747 0.28 0.28 0.287 0.26857 0.0417 0.5179 0.2032 0.4259 0.0787 0.04 0.5 0.21 0.46 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.840892 2.840892 NA NA NA NA 0.21 NA 3.9583 1256 4 1164132 1164132 C G intronic SPON2 NA NA NA intronic ENSG00000159674 NA NA NA NA NA 4p16.3 NA NA NA NA rs76966734 0.06 0.06 0.047 0.0537141 0.0417 0.1379 0.0317 0.0076 0.0573 0.05 0.12 0.04 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679972 NA NA NA NA NA 0.007 NA 3.9583 1256 7 77091083 77091083 G A intergenic GSAP,PTPN12 dist=45366;dist=75690 NA NA ncRNA_exonic ENSG00000237620 NA NA NA NA NA 7q11.23 NA NA NA NA rs73364687 0.08 0.08 0.071 0.0750799 0.0417 0.0446 0.0764 0.1415 0.0501 0.05 0.06 0.08 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683116 NA NA NA NA NA 0.072 NA 3.9583 1256 16 32616891 32616891 C A intergenic LOC390705,TP53TG3 dist=315589;dist=67958 NA NA ncRNA_intronic ENSG00000259966 NA NA NA NA NA 16p11.2 NA NA NA NA rs28671370 NA NA 0.38 0.0413339 0.0417 0.0685 0.0274 0.0454 0.0174 NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738307 NA NA NA NA NA 0.428 NA 3.9583 1256 19 51219057 51219057 G A intronic SHANK1 NA NA NA intronic ENSG00000161681 NA NA NA NA NA 19q13.33 NA NA NA NA rs10416207 0.1 0.1 0.119 0.111621 0.0417 NA 0.062 0.3449 0.0184 0.04 NA 0.07 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.368968 1.368968 NA NA NA NA 0.174 NA 3.9583 1256 22 30771458 30771458 T C ncRNA_exonic KIAA1656 NA NA NA ncRNA_exonic ENSG00000241528 NA NA NA NA NA 22q12.2 NA NA NA NA rs1002189 0.18 0.18 0.182 0.154553 0.2545 0.1458 0.1585 0.1362 0.0828 0.24 0.12 0.16 0.14 0.1968 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397015 NA NA 0.257093 0.154562 NA 0.268 NA 3.9582736 1256 4 141563992 141563992 T G ncRNA_exonic TNRC18P1 NA NA NA ncRNA_exonic ENSG00000249661 NA NA NA NA NA 4q31.21 NA NA NA NA rs6537003 0.8 0.8 0.798 0.804513 0.7087 0.8204 0.7896 0.8797 0.7955 0.72 0.83 0.8 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46722 NA NA NA NA NA 0.797 NA 3.9579666 1256 12 57867520 57867520 A G intronic ARHGAP9 NA NA NA intronic ENSG00000123329 NA NA NA NA NA 12q13.3 NA NA NA NA rs112991183 0.01 0.01 0.004 0.00519169 0.0139 NA 0.0072 NA 0.0072 0.01 NA 0.01 NA 0.0126 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183777 NA NA 0.015698 0.002497 NA NA NA 3.957802 1256 1 206623866 206623866 C T intronic SRGAP2 NA NA NA intronic ENSG00000163486 NA NA NA NA NA 1q32.1 NA NA Name=13 NA rs11809494 0.39 0.39 0.426 0.367412 0.5268 0.2708 0.4006 0.2829 0.3937 0.54 0.24 0.42 0.31 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.262622 NA NA 0.515399 0.317919 NA 0.486 NA 3.957801 1256 9 100666931 100666931 C T UTR3 C9orf156 NM_016481:c.*84G>A NA NA UTR3 ENSG00000136932 ENST00000375119:c.*84G>A,ENST00000375118:c.*84G>A NA NA NA NA 9q22.33 NA NA NA NA rs6586 0.59 0.59 0.61 0.618211 0.3757 0.8185 0.487 0.7398 0.59 0.39 0.82 0.46 0.75 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376125 1.376125 NA NA NA NA 0.572 NA 3.9576334 1256 21 38437763 38437763 C G UTR3 PIGP NM_153682:c.*119G>C,NM_153681:c.*119G>C NA NA UTR3 ENSG00000185808 ENST00000464265:c.*119G>C,ENST00000360525:c.*119G>C,ENST00000399098:c.*119G>C,ENST00000399103:c.*119G>C,ENST00000399102:c.*119G>C NA NA NA NA 21q22.13 NA NA NA NA rs7337 0.46 0.46 0.434 0.489018 0.3757 0.5694 0.4755 0.4418 0.5961 0.37 0.6 0.45 0.43 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.999889 NA NA NA NA NA 0.5 NA 3.9576334 1256 5 132546059 132546059 G A intronic FSTL4 NA NA NA ncRNA_intronic ENSG00000248245 NA NA NA NA NA 5q31.1 NA NA NA NA rs3828692 0.41 0.41 0.411 0.407548 0.3757 0.3819 0.4654 0.4372 0.3855 0.38 0.41 0.46 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35127 NA NA NA NA NA 0.514 NA 3.9576333 1256 1 23885599 23885599 T C intronic ID3 NA NA NA intronic ENSG00000117318 NA NA NA NA NA 1p36.12 NA Name=ZEB1_(SC-25388),Pol2 NA NA rs2067053 0.41 0.41 0.418 0.463658 0.337 0.3403 0.3473 0.6566 0.5429 0.34 0.35 0.36 0.64 0.3787 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630521 NA NA 0.326977 0.57626 NA 0.471 NA 3.957323 1256 10 32806991 32806991 T A intronic CCDC7 NA NA NA intronic ENSG00000216937 NA NA NA NA NA 10p11.22 NA NA NA NA rs76503644 0.03 0.03 0.018 0.0233626 0.0427 0.001 0.0173 0.028 0.0245 0.04 0.0017 0.02 0.02 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471848 NA NA NA NA NA NA NA 3.9573 1256 14 100741182 100741182 G T intronic YY1 NA NA NA intronic ENSG00000100811 NA NA NA NA NA 14q32.2 NA NA NA NA rs115934889 0.04 0.04 0.023 0.0299521 0.0427 NA 0.0331 0.0582 0.0072 0.04 NA 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567772 NA NA NA NA NA 0.036 NA 3.9573 1256 10 50373738 50373738 G T intronic C10orf128 NA NA NA intronic ENSG00000204161 NA NA NA NA NA 10q11.23 NA NA NA NA rs77059741 0.01 0.01 0.011 0.00858626 0.0239 NA 0.0072 NA 0.0143 0.03 NA 0.01 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250422 NA NA 0.018856 0.004335 NA 0.007 NA 3.957244 1256 1 79094081 79094081 T A intronic IFI44L NA NA NA intronic ENSG00000137959 NA NA NA Score=431;Name=lod=75 NA 1p31.1 NA NA NA NA rs1333973 0.43 0.43 0.445 0.428514 0.3439 0.751 0.3516 0.3011 0.41 0.35 0.77 0.31 0.25 0.3824 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208097 NA NA 0.316576 0.302507 NA 0.507 NA 3.957124 1256 2 133554288 133554288 A G exonic NCKAP5 NA synonymous SNV NCKAP5:NM_207363:exon12:c.T822C:p.R274R,NCKAP5:NM_207481:exon12:c.T822C:p.R274R exonic ENSG00000176771 NA synonymous SNV ENSG00000176771:ENST00000317721:exon10:c.T822C:p.R274R,ENSG00000176771:ENST00000405974:exon10:c.T822C:p.R274R,ENSG00000176771:ENST00000409213:exon12:c.T822C:p.R274R,ENSG00000176771:ENST00000409261:exon12:c.T822C:p.R274R NA NA 2q21.2 NA NA NA NA rs1868076 0.69 0.69 0.715 0.690695 0.5398 0.8899 0.6729 0.7126 0.6237 0.53 0.91 0.64 0.73 0.6214 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141738 NA NA 0.548379 0.706263 NA 0.71 NA 3.9570876 1256 15 34520863 34520863 A G intronic EMC4 NA NA NA UTR3 ENSG00000128463 ENST00000557879:c.*534A>G NA NA NA NA 15q14 NA NA NA NA rs17236784 0.21 0.21 0.184 0.214657 0.2097 0.2808 0.2089 0.1467 0.2474 0.22 0.27 0.21 0.12 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217689 NA NA NA NA NA 0.109 NA 3.9569667 1256 2 102638615 102638615 C T intronic IL1R2 NA NA NA intronic ENSG00000115590 NA NA NA NA NA 2q11.2 NA NA NA NA rs3218959 0.09 0.09 0.111 0.114018 0.005 0.001 0.0317 0.3669 0.0593 0.004 NA 0.02 0.39 0.0352 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026123 NA NA 0.002907 0.280527 NA 0.116 NA 3.956893 1256 8 87672990 87672990 A G intronic CNGB3 NA NA NA ncRNA_exonic ENSG00000233915 NA NA NA NA NA 8q21.3 NA NA NA NA rs4960985 0.43 0.43 0.375 0.433506 0.3767 0.5357 0.5403 0.2799 0.5184 0.4 0.54 0.48 0.33 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519645 NA NA NA NA NA 0.442 NA 3.9566333 1256 22 18293650 18293650 A G intronic MICAL3 NA NA NA ncRNA_exonic ENSG00000093100 NA NA NA NA NA 22q11.21 NA NA NA NA rs436590 0.52 0.52 0.544 0.550719 0.3767 0.4821 0.3573 0.9138 0.4468 0.37 0.46 0.42 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977131 NA NA NA NA NA 0.406 NA 3.9566333 1256 3 183439652 183439652 T C intronic YEATS2 NA NA NA intronic ENSG00000163872 NA NA NA NA NA 3q27.1 NA NA NA NA rs116502703 0.01 0.01 0.008 0.00998403 0.0159 0.001 0.0159 0.0015 0.0204 0.02 0.0017 0.02 0.002 0.0129 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.501844 3.501844 NA 0.014746 0.002204 NA 0.007 NA 3.956454 1256 17 80363266 80363266 A G intronic OGFOD3 NA NA NA intronic ENSG00000181396 NA NA NA NA NA 17q25.3 NA NA NA NA rs71375101 0.01 0.01 0.002 0.00439297 0.0139 NA 0.0029 NA 0.0061 0.01 0.0017 0.0028 NA 0.0132 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38285 NA NA 0.016512 0.002724 NA NA NA 3.956388 1256 3 186435561 186435561 G A intronic KNG1 NA NA NA ncRNA_intronic ENSG00000197099 NA NA NA NA NA 3q27.3 NA NA NA NA rs13072823 0.14 0.14 0.115 0.152955 0.1262 0.0605 0.1556 0.2534 0.138 0.13 0.04 0.16 0.23 0.1385 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.743873 1.743873 NA 0.11225 0.249432 ID=COSN167114;OCCURENCE=1(large_intestine) 0.058 NA 3.9563833 1256 1 220955347 220955347 T A intronic MARC2 NA NA NA intronic ENSG00000117791 NA NA NA NA NA 1q41 NA NA NA NA rs2279637 0.07 0.07 0.054 0.0750799 0.0437 0.2173 0.0187 0.0393 0.0491 0.04 0.17 0.02 0.04 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707114 NA NA NA NA NA 0.058 NA 3.9563 1256 1 234452263 234452263 G A intronic SLC35F3 NA NA NA intronic ENSG00000183780 NA NA NA NA NA 1q42.2 NA NA NA NA rs745858 0.06 0.06 0.054 0.0876597 0.0437 0.004 0.0821 0.1626 0.1217 0.04 0.0017 0.07 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328229 NA NA NA NA NA 0.051 NA 3.9563 1256 2 109547280 109547280 G A intronic EDAR NA NA NA intronic ENSG00000135960 NA NA NA NA NA 2q12.3 NA NA NA NA rs78887701 0.02 0.02 0.025 0.0135783 0.0437 NA 0.0144 0.0015 0.0123 0.05 NA 0.01 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.733211 NA NA NA NA NA 0.007 NA 3.9563 1256 7 23205634 23205634 C T intronic KLHL7 NA NA NA intronic ENSG00000122550 NA NA NA NA NA 7p15.3 NA NA NA NA rs858312 0.04 0.04 0.033 0.0511182 0.0437 0.0129 0.0634 0.0567 0.0818 0.05 0.01 0.04 0.05 NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.272953 1.272953 NA NA NA NA 0.036 NA 3.9563 1256 10 27701920 27701920 C T intronic PTCHD3 NA NA NA intronic ENSG00000182077 NA NA NA NA NA 10p12.1 NA NA NA NA rs11015752 0.13 0.13 0.132 0.118411 0.0437 0.3601 0.1052 0.0182 0.091 0.05 0.34 0.09 0.02 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45167 NA NA NA NA NA 0.051 NA 3.9563 1256 12 132467128 132467128 C T intronic EP400 NA NA NA intronic ENSG00000183495 NA NA NA NA NA 12q24.33 NA NA NA NA rs113878817 0.02 0.02 0.016 0.0125799 0.0437 NA 0.0187 0.0023 0.0031 0.04 NA 0.02 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202052 NA NA NA NA NA 0.014 NA 3.9563 1256 21 43518963 43518963 C G intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs113802209 0.02 0.02 0.017 0.0207668 0.0437 NA 0.0159 0.0129 0.0327 0.04 NA 0.02 0.02 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681162 NA NA NA NA NA 0.022 NA 3.9563 1256 22 30188672 30188672 C T intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs2240364 0.07 0.07 0.055 0.0738818 0.0437 0.0853 0.0807 0.0703 0.093 0.05 0.1 0.07 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414788 NA NA NA NA NA 0.08 NA 3.9563 1256 22 30218270 30218270 T C intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs17711461 0.06 0.06 0.045 0.0589058 0.0437 0.0853 0.0706 0.0182 0.0941 0.05 0.1 0.06 0.02 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577964 NA NA NA NA NA 0.051 NA 3.9563 1256 12 8689668 8689668 C T intronic CLEC4E NA NA NA intronic ENSG00000166523 NA NA NA NA NA 12p13.31 NA NA NA NA rs112683446 0.01 0.01 0.004 0.00499201 0.0159 NA 0.0058 0.0015 0.0031 0.01 NA 0.01 NA 0.0109 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370193 NA NA 0.016977 0.001362 NA 0.007 NA 3.956223 1256 1 27687366 27687366 C G intronic MAP3K6 NA NA NA intronic ENSG00000142733 NA NA NA NA NA 1p36.11 NA Name=HMGN3 NA NA rs35733093 0.33 0.33 0.253 0.310304 0.3787 0.5546 0.219 0.093 0.3466 0.38 0.5 0.23 0.12 0.3325 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122822 NA NA 0.332596 0.138826 NA 0.116 NA 3.956204 1256 17 1518346 1518346 C A intronic SLC43A2 NA NA NA intronic ENSG00000167703 NA NA NA NA NA 17p13.3 NA NA NA NA rs72820352 0.01 0.01 0.004 0.00419329 0.0139 NA 0.0072 0.0008 0.001 0.02 NA 0.01 NA 0.0144 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96865 NA NA 0.015581 0.002043 NA 0.007 NA 3.956119 1256 7 83631390 83631390 C G intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA NA NA rs10234961 0.04 0.04 0.042 0.0413339 0.0139 0.0179 0.0101 0.1157 0.0153 0.02 0.02 0.01 0.11 0.0197 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788915 NA NA 0.010581 0.090785 NA 0.051 NA 3.955819 1256 17 45901480 45901480 C T UTR3 MRPL10 NM_145255:c.*91G>A,NM_148887:c.*91G>A NA NA UTR3 ENSG00000159111 ENST00000351111:c.*91G>A,ENST00000290208:c.*91G>A,ENST00000414011:c.*91G>A,ENST00000421763:c.*879G>A NA NA NA NA 17q21.32 NA NA NA NA rs701984 0.35 0.35 0.314 0.335663 0.3777 0.6399 0.3329 0.0333 0.3896 0.38 0.62 0.3 0.04 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516546 NA NA NA NA NA 0.217 NA 3.9556334 1256 19 35509879 35509879 C T intronic GRAMD1A NA NA NA ncRNA_intronic ENSG00000271032 NA NA NA NA NA 19q13.12 NA NA NA NA rs12461339 0.33 0.33 0.35 0.307508 0.3777 0.2173 0.3703 0.3873 0.1759 0.38 0.2 0.37 0.37 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576291 NA NA NA NA NA 0.333 NA 3.9556333 1256 14 24761361 24761361 T C intronic DHRS1 NA NA NA intronic ENSG00000157379 NA NA NA NA NA 14q12 NA NA NA NA rs142311425 0.01 0.01 0.004 0.00519169 0.0189 NA 0.0101 NA NA 0.02 NA 0.01 NA 0.0114 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157873 NA NA 0.014302 0.003177 NA NA NA 3.955398 1256 20 60927349 60927349 C T exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon4:c.G636A:p.A212A exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon4:c.G636A:p.A212A,ENSG00000130702:ENST00000370677:exon4:c.G636A:p.A212A,ENSG00000130702:ENST00000370692:exon4:c.G636A:p.A212A Score=452;Name=lod=92 NA 20q13.33 NA NA NA NA rs483876 0.8 0.8 0.825 0.751198 0.9215 0.9405 0.8026 0.4213 0.7904 0.92 0.95 0.8 0.46 0.8605 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290822 NA NA 0.929353 0.526579 ID=COSM444175;OCCURENCE=1(breast),1(large_intestine) 0.674 NA 3.9553136 1256 1 89322809 89322809 C T intronic GTF2B NA NA NA intronic ENSG00000137947 NA NA NA NA NA 1p22.2 NA NA NA NA rs7534197 0.13 0.13 0.143 0.157548 0.0447 0.0317 0.0533 0.4486 0.0838 0.05 0.04 0.05 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546624 NA NA NA NA NA 0.203 NA 3.9553 1256 7 66458112 66458112 T C intronic SBDS NA NA NA intronic ENSG00000126524 NA NA NA NA NA 7q11.21 NA NA NA NA rs142213835 0.02 0.02 0.018 0.0159744 0.0447 NA 0.036 0.0015 0.0082 0.04 NA 0.03 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980568 NA NA NA NA NA 0.014 NA 3.9553 1256 11 76207199 76207199 G C intronic C11orf30 NA NA NA intronic ENSG00000158636 NA NA NA NA NA 11q13.5 NA NA NA NA rs74680029 0.02 0.02 0.022 0.0205671 0.0447 NA 0.0245 0.0234 0.0102 0.04 NA 0.03 0.03 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.698402 2.698402 NA NA NA NA 0.007 NA 3.9553 1256 11 76257453 76257453 T C intronic C11orf30 NA NA NA intronic ENSG00000158636 NA NA NA NA NA 11q13.5 NA NA NA NA rs11602123 0.03 0.03 0.032 0.024361 0.0447 NA 0.0259 0.0371 0.0102 0.04 NA 0.03 0.06 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140203 NA NA NA NA NA 0.014 NA 3.9553 1256 14 95903060 95903060 A C intronic SYNE3 NA NA NA intronic ENSG00000176438 NA NA NA NA NA 14q32.13 NA NA NA NA rs78849563 0.04 0.04 0.046 0.0625 0.0447 0.002 0.036 0.093 0.1207 0.04 0.0017 0.04 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114797 NA NA NA NA NA 0.036 NA 3.9553 1256 21 43518981 43518981 G A intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs113060004 0.02 0.02 0.016 0.0209665 0.0447 NA 0.0159 0.0129 0.0327 0.04 NA 0.02 0.02 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303524 NA NA NA NA NA 0.022 NA 3.9553 1256 21 43519364 43519364 G A intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs112450832 0.02 0.02 0.017 0.0177716 0.0447 NA 0.0144 0.0015 0.0327 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806495 NA NA NA NA NA 0.007 NA 3.9553 1256 19 48783080 48783080 C T intronic ZNF114 NA NA NA intronic ENSG00000178150 NA NA NA NA NA 19q13.33 NA NA NA NA rs117587291 0.01 0.01 0.011 0.00599042 0.0219 NA 0.0029 NA 0.0061 0.03 NA 0.0028 NA 0.0119 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.058554 NA NA 0.01093 0.002043 NA NA NA 3.95527 1256 10 135213138 135213138 G A intronic MTG1 NA NA NA intronic ENSG00000148824,ENSG00000254536 NA NA NA NA NA 10q26.3 NA NA NA NA rs117686263 0.01 0.01 0.008 0.00439297 0.0149 NA 0.0086 NA 0.001 0.01 NA 0.02 NA 0.0103 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694938 NA NA 0.019535 0.004539 NA 0.014 NA 3.955265 1256 4 8390858 8390858 G C intronic ACOX3 NA NA NA intronic ENSG00000087008 NA NA NA NA NA 4p16.1 NA NA NA NA rs143888158 0.01 0.01 0.007 0.00658946 0.0189 NA 0.013 0.0015 0.0031 0.02 NA 0.01 0.002 0.0101 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383794 NA NA 0.015814 0.002497 NA NA NA 3.955186 1256 2 1652822 1652822 T G exonic PXDN NA synonymous SNV PXDN:NM_012293:exon17:c.A2730C:p.I910I exonic ENSG00000130508 NA synonymous SNV ENSG00000130508:ENST00000252804:exon17:c.A2730C:p.I910I Score=429;Name=lod=74 NA 2p25.3 NA NA NA NA rs1863135 0.94 0.94 0.939 0.935503 0.8936 0.999 0.964 0.8729 0.9775 0.89 1 0.96 0.91 0.9176 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.007258 NA NA 0.900291 0.896882 NA 0.833 NA 3.9551756 1256 16 2226243 2226243 C G intronic TRAF7 NA NA NA intronic ENSG00000131653 NA NA NA NA NA 16p13.3 NA NA NA NA rs11642042 0.01 0.01 0.006 0.00579073 0.0139 NA 0.013 0.0015 0.0041 0.01 NA 0.01 NA 0.0124 0.019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311483 NA NA 0.018609 0.005705 NA NA NA 3.955091 1256 17 45385012 45385012 C T intronic ITGB3 NA NA NA ncRNA_intronic ENSG00000263293 NA NA NA NA NA 17q21.32 Score=705;Name=V$PPARG_02 NA NA NA rs3809863 0.4 0.4 0.397 0.398962 0.4642 0.252 0.3487 0.497 0.3865 0.48 0.27 0.41 0.44 0.4383 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530083 NA NA 0.475814 0.485247 NA 0.377 NA 3.9550193 1257 11 77811990 77811990 T C ncRNA_UTR3 ALG8 NA NA NA UTR3 ENSG00000159063 ENST00000530608:c.*20A>G,ENST00000299626:c.*20A>G NA NA NA NA 11q14.1 Score=879;Name=V$NF1_Q6 NA NA NA rs1263505 0.83 0.83 0.825 0.832668 0.8618 0.7351 0.7161 0.9501 0.8272 0.86 0.73 0.75 0.95 0.8319 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223516 NA NA 0.851468 0.936818 NA 0.891 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082154.1;CLNDSDB=.;CLNDSDBID=. 3.954832 1257 1 226562112 226562112 C G intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA NA NA NA rs1805401 0.02 0.02 0.019 0.0151757 0.0457 NA 0.0331 0.0015 0.0051 0.04 NA 0.04 0.002 NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634737 NA NA NA NA NA 0.087 NA 3.9543 1257 3 148902950 148902950 T C intronic CP NA NA NA intronic ENSG00000047457 NA NA NA NA NA 3q25.1 NA NA NA NA rs35903829 0.02 0.02 0.013 0.0189696 0.0457 0.001 0.0346 0.0008 0.0235 0.04 0.0017 0.04 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224636 NA NA NA NA NA 0.058 NA 3.9543 1257 3 148905726 148905726 G A intronic CP NA NA NA intronic ENSG00000047457 NA NA NA NA NA 3q25.1 NA NA NA NA rs35516209 0.02 0.02 0.015 0.0195687 0.0457 0.001 0.036 0.0008 0.0256 0.04 0.0017 0.04 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311289 NA NA NA NA NA 0.065 NA 3.9543 1257 3 189590871 189590871 G A intronic TP63 NA NA NA intronic ENSG00000073282 NA NA NA NA NA 3q28 NA NA NA NA rs111843185 0.04 0.04 0.034 0.0519169 0.0457 0.0595 0.0317 0.0166 0.1125 0.05 0.06 0.02 0.01 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179797 NA NA NA NA NA 0.051 NA 3.9543 1257 4 145985616 145985616 C T intronic ANAPC10 NA NA NA intronic ENSG00000164162 NA NA NA NA NA 4q31.21 NA NA NA NA rs35754508 0.02 0.02 0.006 0.0177716 0.0457 NA 0.0115 NA 0.0358 0.04 NA 0.02 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727909 NA NA NA NA NA 0.043 NA 3.9543 1257 14 45489944 45489944 C G intronic FAM179B NA NA NA intronic ENSG00000179454,ENSG00000198718 NA NA NA NA NA 14q21.2 NA NA NA NA rs111996076 0.03 0.03 0.022 0.0321486 0.0457 0.001 0.0793 0.003 0.0562 0.04 NA 0.06 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303867 NA NA NA NA NA 0.022 NA 3.9543 1257 15 42442186 42442186 A G intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs60486546 0.15 0.15 0.157 0.187899 0.0457 0.1101 0.1268 0.4342 0.1247 0.04 0.09 0.14 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344595 NA NA NA NA NA 0.196 NA 3.9543 1257 19 45314324 45314324 T C intronic BCAM NA NA NA intronic ENSG00000187244 NA NA NA NA NA 19q13.32 NA NA NA NA rs28399607 0.02 0.02 0.011 0.0221645 0.0457 NA 0.0159 0.0045 0.0491 0.04 NA 0.01 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405605 NA NA NA NA NA 0.072 NA 3.9543 1257 22 30202079 30202079 G A intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs12159277 0.13 0.13 0.134 0.146366 0.0457 0.0853 0.0893 0.3389 0.093 0.05 0.1 0.07 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345812 NA NA NA NA NA 0.13 NA 3.9543 1257 22 30218213 30218213 C A intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs73394831 0.13 0.13 0.134 0.148962 0.0457 0.0883 0.0893 0.3457 0.0941 0.05 0.1 0.07 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470484 NA NA NA NA NA 0.152 NA 3.9543 1257 2 10915020 10915020 A G intronic ATP6V1C2 NA NA NA intronic ENSG00000143882 NA NA NA NA NA 2p25.1 NA Name=GATA-2 NA NA rs2969881 0.37 0.37 0.343 0.397963 0.331 0.4067 0.3905 0.4327 0.4162 0.34 0.36 0.4 0.41 0.3722 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.078669 NA NA 0.342907 0.383114 NA 0.29 NA 3.953893 1257 21 46951556 46951556 A G exonic SLC19A1 NA synonymous SNV SLC19A1:NM_001205207:exon2:c.T576C:p.P192P,SLC19A1:NM_001205206:exon3:c.T696C:p.P232P,SLC19A1:NM_194255:exon3:c.T696C:p.P232P exonic ENSG00000173638 NA synonymous SNV ENSG00000173638:ENST00000485649:exon2:c.T576C:p.P192P,ENSG00000173638:ENST00000311124:exon3:c.T696C:p.P232P,ENSG00000173638:ENST00000380010:exon3:c.T696C:p.P232P,ENSG00000173638:ENST00000567670:exon3:c.T696C:p.P232P NA NA 21q22.3 NA NA NA NA rs12659 0.53 0.53 0.497 0.553115 0.5557 0.4752 0.5908 0.5189 0.6503 0.57 0.47 0.58 0.52 0.5775 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792786 NA NA 0.579651 0.55881 NA 0.341 NA 3.9538156 1257 3 29628722 29628722 T C intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs56049588 0.05 0.05 NA NA NA NA NA NA NA 0.07 0.0017 0.04 0.08 0.0463 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.951928 1.951928 NA NA NA NA 0.007 NA 3.9537 1257 19 36940760 36940760 G T exonic ZNF566 NA synonymous SNV ZNF566:NM_001145343:exon5:c.C379A:p.R127R,ZNF566:NM_001145344:exon5:c.C376A:p.R126R,ZNF566:NM_001145345:exon5:c.C376A:p.R126R,ZNF566:NM_032838:exon5:c.C376A:p.R126R exonic ENSG00000186017 NA synonymous SNV ENSG00000186017:ENST00000493391:exon3:c.C64A:p.R22R,ENSG00000186017:ENST00000392170:exon5:c.C379A:p.R127R,ENSG00000186017:ENST00000424129:exon5:c.C376A:p.R126R,ENSG00000186017:ENST00000427002:exon5:c.C379A:p.R127R,ENSG00000186017:ENST00000434377:exon5:c.C376A:p.R126R,ENSG00000186017:ENST00000452939:exon5:c.C376A:p.R126R,ENSG00000186017:ENST00000454319:exon5:c.C379A:p.R127R NA NA 19q13.12 NA NA NA NA rs2967532 0.48 0.48 0.498 0.496406 0.5885 0.2669 0.3991 0.5968 0.5716 0.57 0.26 0.45 0.62 0.5334 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.017489 NA NA 0.591163 0.613936 NA 0.5 NA 3.9536036 1257 4 40895453 40895453 G A intronic APBB2 NA NA NA intronic ENSG00000163697 NA NA NA NA NA 4p14 NA NA NA NA rs115694824 0.01 0.01 0.007 0.00599042 0.0149 NA 0.0029 0.0015 0.0112 0.02 NA 0.0028 0.002 0.0133 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549009 NA NA 0.018399 0.00324 NA 0.007 NA 3.953401 1257 1 35944886 35944886 T C intronic KIAA0319L NA NA NA intronic ENSG00000142687 NA NA NA NA NA 1p34.3 NA NA NA NA rs7545232 0.29 0.29 0.298 0.293131 0.0467 0.5278 0.2262 0.4047 0.2014 0.04 0.57 0.22 0.4 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980716 NA NA NA NA NA 0.196 NA 3.9533 1257 7 30701665 30701665 T C intronic CRHR2 NA NA NA intronic ENSG00000106113 NA NA NA NA NA 7p14.3 NA NA NA NA rs149265265 0.02 0.02 0.018 0.0141773 0.0467 NA 0.0317 0.0015 NA 0.04 NA 0.03 0.0041 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122341 NA NA NA NA NA 0.022 NA 3.9533 1257 10 101637161 101637161 G A intronic DNMBP NA NA NA intronic ENSG00000107554 NA NA NA NA NA 10q24.2 NA NA NA NA rs2256276 0.09 0.09 0.1 0.101837 0.0467 0.0218 0.0821 0.2769 0.0184 0.04 0.03 0.08 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.115673 NA NA NA NA NA 0.094 NA 3.9533 1257 11 105482909 105482909 G T intronic GRIA4 NA NA NA intronic ENSG00000152578 NA NA NA NA NA 11q22.3 NA NA NA NA rs79868289 0.02 0.02 0.017 0.0169728 0.0467 0.001 0.0317 0.003 0.0112 0.04 0.0017 0.04 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.505656 1.505656 NA NA NA NA 0.014 NA 3.9533 1257 12 122396573 122396573 C T intronic WDR66 NA NA NA intronic ENSG00000158023 NA NA NA NA NA 12q24.31 NA NA NA NA rs7300379 0.23 0.23 0.249 0.301717 0.0467 0.2937 0.0706 0.6036 0.3282 0.05 0.26 0.08 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19915 NA NA NA NA NA 0.152 NA 3.9533 1257 18 13041032 13041032 G A intronic CEP192 NA NA NA intronic ENSG00000101639 NA NA NA NA NA 18p11.21 NA NA NA NA rs79796549 0.02 0.02 0.017 0.0159744 0.0467 0.001 0.0173 0.0038 0.0153 0.04 0.0017 0.02 0.01 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171473 NA NA NA NA NA 0.022 NA 3.9533 1257 19 54783035 54783035 T G intronic LILRB2 NA NA NA intronic ENSG00000131042 NA NA NA NA NA 19q13.42 NA NA NA NA rs55904418 0.03 0.03 0.016 0.0505192 0.0467 0.0278 0.1009 0.0083 0.0992 0.05 0.02 0.06 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71353 NA NA NA NA NA 0.036 NA 3.9533 1257 19 57795783 57795783 A G intronic ZNF460 NA NA NA intronic ENSG00000197714 NA NA NA NA NA 19q13.43 NA NA NA NA rs74345217 0.03 0.03 0.026 0.0367412 0.0467 0.0625 0.0504 0.003 0.0358 0.04 0.04 0.05 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448137 NA NA NA NA NA 0.007 NA 3.9533 1257 20 31812298 31812298 G T intronic BPIFA3 NA NA NA intronic ENSG00000131059 NA NA NA NA NA 20q11.21 NA NA NA NA rs2180674 0.11 0.11 0.121 0.123403 0.006 0.0308 0.0303 0.4236 NA 0.01 0.03 0.04 0.4 0.0378 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2694 NA NA 0.003256 0.347027 NA 0.138 NA 3.952944 1257 5 137625141 137625141 C G intronic CDC25C NA NA NA intronic ENSG00000158402 NA NA NA NA NA 5q31.2 NA NA NA NA rs11567998 0.01 0.01 0.008 0.0071885 0.0199 NA 0.0115 0.0015 0.0061 0.02 NA 0.01 0.002 0.0098 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.942462 2.942462 NA 0.017442 0.002497 NA 0.08 NA 3.952858 1257 3 158522190 158522190 T C intronic MFSD1 NA NA NA intronic ENSG00000118855 NA NA NA NA NA 3q25.32 NA NA NA NA rs79796809 0.01 0.01 0.004 0.00938498 0.0209 NA 0.0072 0.0008 0.0204 0.01 NA 0.01 NA 0.0116 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331582 NA NA 0.014767 0.001362 NA 0.007 NA 3.952733 1257 3 118648879 118648879 A G intronic IGSF11 NA NA NA intronic ENSG00000144847 NA NA NA NA NA 3q13.32 NA NA NA NA rs12495725 0.08 0.08 0.049 0.0611022 0.0477 0.0556 0.1988 0.0386 0.0133 0.05 0.07 0.2 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110772 NA NA NA NA NA 0.051 NA 3.9523 1257 5 35072620 35072620 A G intronic PRLR NA NA NA intronic ENSG00000113494 NA NA NA NA NA 5p13.2 NA NA NA NA rs57717665 0.08 0.08 0.08 0.106629 0.0477 0.0427 0.0576 0.2504 0.0736 0.04 0.04 0.06 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879373 NA NA NA NA NA 0.072 NA 3.9523 1257 5 171785702 171785702 A G intronic SH3PXD2B NA NA NA intronic ENSG00000174705 NA NA NA NA NA 5q35.1 NA NA NA NA rs17703000 0.05 0.05 0.043 0.0800719 0.0477 0.0317 0.0749 0.0287 0.2362 0.05 0.04 0.08 0.03 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124824 NA NA NA NA NA 0.087 NA 3.9523 1257 6 44115864 44115864 A G intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs1539379 0.14 0.14 0.142 0.120407 0.0477 0.2232 0.1527 0.1157 0.0726 0.05 0.26 0.13 0.13 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552654 NA NA NA NA NA 0.101 NA 3.9523 1257 8 19682577 19682577 G A intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs6997363 0.09 0.09 0.078 0.10024 0.0477 0.1647 0.0692 0.09 0.1237 0.05 0.17 0.07 0.09 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632766 NA NA NA NA NA 0.087 NA 3.9523 1257 11 123880596 123880596 C T intergenic OR10S1,OR10G4 dist=32198;dist=5686 NA NA ncRNA_exonic ENSG00000226461 NA NA NA NA NA 11q24.1 NA NA NA NA rs17128126 0.08 0.08 0.086 0.091853 0.0477 0.0506 0.0375 0.1899 0.0859 0.05 0.06 0.03 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.329105 NA 1 NA NA NA 0.116 NA 3.9523 1257 12 43963769 43963769 A G intergenic ADAMTS20,PUS7L dist=18045;dist=158641 NA NA ncRNA_exonic ENSG00000257813 NA NA NA NA NA 12q12 NA NA NA NA rs75198585 0.02 0.02 0.023 0.0167732 0.0477 NA 0.0274 0.0023 0.0143 0.05 NA 0.02 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361323 NA NA NA NA NA 0.007 NA 3.9523 1257 19 41235038 41235038 C G intronic ITPKC NA NA NA intronic ENSG00000086544 NA NA NA NA NA 19q13.2 NA NA NA NA rs10420651 0.14 0.14 0.145 0.126997 0.0477 0.2252 0.0533 0.2088 0.0491 0.05 0.25 0.07 0.22 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.940955 NA NA NA NA NA 0.101 NA 3.9523 1257 21 43241316 43241316 A G intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs3934698 0.06 0.06 0.049 0.0824681 0.0477 0.004 0.0504 0.1573 0.1207 0.05 0.0017 0.05 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786842 NA NA NA NA NA 0.058 NA 3.9523 1257 22 25255950 25255950 C T intronic SGSM1 NA NA NA intronic ENSG00000167037 NA NA NA NA NA 22q11.23 NA NA NA NA rs139701 0.12 0.12 0.132 0.140775 0.0477 0.0992 0.0879 0.3154 0.0808 0.05 0.07 0.09 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847536 NA NA NA NA NA 0.152 NA 3.9523 1257 22 36889606 36889606 A G intronic FOXRED2 NA NA NA intronic ENSG00000100350 NA NA NA NA NA 22q12.3 NA NA NA NA rs112675679 0.02 0.02 0.007 0.0189696 0.0477 NA 0.0187 0.003 0.0307 0.06 NA 0.01 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37412 NA NA NA NA NA 0.014 NA 3.9523 1257 22 39629609 39629609 G A intronic PDGFB NA NA NA intronic ENSG00000100311 NA NA NA NA NA 22q13.1 NA NA NA NA rs9622979 0.09 0.09 0.104 0.13119 0.0477 0.0724 0.1182 0.2186 0.1687 0.04 0.06 0.09 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455663 NA NA NA NA NA 0.109 NA 3.9523 1257 3 193062921 193062921 T C intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 NA NA NA NA rs116545953 0.01 0.01 0.005 0.0105831 0.0268 NA 0.0274 NA 0.0072 0.02 NA 0.04 NA NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482341 NA NA 0.021684 0.003613 NA 0.022 NA 3.951516 1257 18 3134826 3134826 A C intronic MYOM1 NA NA NA intronic ENSG00000101605 NA NA NA NA NA 18p11.31 NA NA NA NA rs143030509 0.01 0.01 0.009 0.00599042 0.0249 NA 0.0043 NA 0.002 0.03 NA 0.01 NA 0.0101 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809911 NA NA 0.013615 0.000806 NA NA NA 3.951385 1257 8 138709068 138709068 C T intergenic NONE,FAM135B dist=NONE;dist=433198 NA NA ncRNA_exonic ENSG00000254076 NA NA NA NA NA 8q24.23 NA NA NA NA rs61415388 0.14 0.14 0.145 0.158946 0.0487 0.1577 0.0749 0.2882 0.1585 0.04 0.18 0.08 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639525 NA NA NA NA NA 0.174 NA 3.9513 1257 8 138709210 138709210 A G intergenic NONE,FAM135B dist=NONE;dist=433056 NA NA ncRNA_exonic ENSG00000254076 NA NA NA NA NA 8q24.23 NA NA NA NA rs57978144 0.14 0.14 0.137 0.158746 0.0487 0.1567 0.0749 0.2882 0.1585 0.04 0.17 0.08 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79698 NA NA NA NA NA 0.174 NA 3.9513 1257 7 2553030 2553030 T C intronic LFNG NA NA NA intronic ENSG00000106003 NA NA NA NA NA 7p22.3 NA NA NA NA rs73049130 0.03 0.03 0.024 0.0239617 0.0487 0.001 0.0807 0.0008 0.0133 0.05 0.0017 0.06 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478771 NA NA NA NA NA 0.13 NA 3.9513 1257 8 23002444 23002444 C T intronic TNFRSF10D NA NA NA intronic ENSG00000173530 NA NA NA NA NA 8p21.3 NA NA NA NA rs75163938 0.02 0.02 0.021 0.0139776 0.0487 NA 0.0216 0.0008 0.0051 0.05 NA 0.02 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047477 NA NA NA NA NA 0.014 NA 3.9513 1257 10 124001363 124001363 C G intronic TACC2 NA NA NA intronic ENSG00000138162 NA NA NA NA NA 10q26.13 NA NA NA NA rs4752674 0.07 0.07 0.046 0.0726837 0.0487 0.12 0.1037 0.0023 0.1217 0.05 0.12 0.09 0.002 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561171 NA NA NA NA ID=COSN163797;OCCURENCE=1(breast) 0.014 NA 3.9513 1257 12 132516386 132516386 C T intronic EP400 NA NA NA intronic ENSG00000183495 NA NA NA NA NA 12q24.33 NA NA NA NA rs113573118 0.02 0.02 0.02 0.0135783 0.0487 NA 0.0187 0.0023 0.0031 0.05 NA 0.02 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718014 NA NA NA NA NA 0.022 NA 3.9513 1257 22 18018913 18018913 A G intronic CECR2 NA NA NA intronic ENSG00000099954 NA NA NA NA NA 22q11.21 NA NA NA NA rs62241413 0.11 0.11 0.121 0.13139 0.0487 0.0179 0.062 0.3941 0.0276 0.05 0.02 0.06 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400311 NA NA NA NA NA 0.101 NA 3.9513 1257 19 39866540 39866540 G A intronic SAMD4B NA NA NA intronic ENSG00000179134 NA NA NA NA NA 19q13.2 NA NA NA NA rs73547912 0.04 0.04 0.045 0.0389377 0.0169 0.0298 0.0115 0.0877 0.0245 0.02 0.02 0.02 0.12 0.0204 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013733 NA NA 0.011628 0.080572 NA 0.051 NA 3.951072 1257 4 177094542 177094542 T C intronic WDR17 NA NA NA intronic ENSG00000150627 NA NA NA NA NA 4q34.2 NA NA NA NA rs114302658 0.01 0.01 0.014 0.0115815 0.0159 NA 0.0101 0.0227 0.0051 0.01 NA 0.01 0.02 0.0166 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287874 NA NA 0.016632 0.023853 NA NA NA 3.950868 1257 8 144889172 144889172 A G exonic SCRIB NA synonymous SNV SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T exonic ENSG00000180900 NA synonymous SNV ENSG00000180900:ENST00000531942:exon2:c.T81C:p.T27T,ENSG00000180900:ENST00000320476:exon17:c.T2190C:p.T730T,ENSG00000180900:ENST00000356994:exon17:c.T2190C:p.T730T,ENSG00000180900:ENST00000377533:exon17:c.T1947C:p.T649T Score=423;Name=lod=70 NA 8q24.3 NA NA NA NA rs10866915 0.88 0.88 0.862 0.883586 0.8986 0.9752 0.9251 0.7186 0.9673 0.9 0.98 0.9 0.73 0.9096 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065249 NA NA 0.907769 0.761245 ID=COSM1489084,COSM454165;OCCURENCE=1(breast) 0.848 NA 3.9506976 1257 7 117874476 117874476 T C intronic ANKRD7 NA NA NA intronic ENSG00000106013 NA NA NA NA NA 7q31.31 NA NA NA NA rs117395317 0.04 0.04 0.036 0.0315495 0.0139 0.0645 0.0346 0.0227 0.0256 0.01 0.07 0.05 0.03 0.0265 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180778 NA NA 0.009264 0.018459 NA 0.007 NA 3.950336 1257 12 111290599 111290599 G A intronic CCDC63 NA NA NA intronic ENSG00000173093 NA NA NA NA NA 12q24.11 NA NA NA NA rs7952822 0.07 0.07 0.079 0.0892572 0.0497 0.0149 0.0461 0.1952 0.0941 0.05 0.01 0.05 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023508 NA NA NA NA NA 0.058 NA 3.9503 1257 16 57139069 57139069 C T intronic CPNE2 NA NA NA intronic ENSG00000140848 NA NA NA NA NA 16q13 NA NA NA NA rs111843362 0.02 0.02 0.013 0.0157748 0.0497 NA 0.0231 0.0038 0.0082 0.05 NA 0.03 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942803 NA NA NA NA NA 0.007 NA 3.9503 1257 19 55209046 55209046 G A intergenic LILRB4,LILRP2 dist=29200;dist=10555 NA NA ncRNA_exonic ENSG00000186152 NA NA NA NA NA 19q13.42 NA NA NA NA rs78843029 0.07 0.07 0.062 0.0686901 0.0497 0.126 0.0951 0.0038 0.0982 0.06 0.13 0.09 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.829831 NA NA NA NA NA 0.036 NA 3.9503 1257 15 52539825 52539825 C A intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA NA NA rs55870025 0.07 0.07 0.05 0.0664936 0.0099 0.1022 0.0533 0.115 0.0317 0.01 0.11 0.04 0.12 0.0304 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545508 NA NA 0.009536 0.085838 NA 0.087 NA 3.950164 1257 4 169086441 169086441 A G exonic ANXA10 NA synonymous SNV ANXA10:NM_007193:exon6:c.A444G:p.S148S exonic ENSG00000109511 NA synonymous SNV ENSG00000109511:ENST00000359299:exon6:c.A444G:p.S148S NA NA 4q32.3 NA NA NA NA rs4405979 0.51 0.51 0.516 0.532947 0.5934 0.2421 0.4697 0.7443 0.5297 0.58 0.24 0.53 0.7 0.5397 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333543 NA NA 0.583624 0.71448 ID=COSM149756;OCCURENCE=1(stomach) 0.406 NA 3.9499426 1257 17 4536832 4536832 G A intronic ALOX15 NA NA NA intronic ENSG00000161905 NA NA NA NA NA 17p13.2 NA NA NA NA rs11568125 0.04 0.04 0.041 0.0489217 0.008 NA 0.0274 0.1256 0.0532 0.01 NA 0.02 0.14 0.027 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.130312 NA NA 0.015233 0.11507 NA 0.058 NA 3.949767 1257 9 107579750 107579750 C T intronic ABCA1 NA NA NA intronic ENSG00000165029 NA NA NA NA NA 9q31.1 NA NA NA NA rs13292447 0.01 0.01 0.01 0.013778 0.0249 NA 0.0231 0.0015 0.0266 0.03 NA 0.03 0.0041 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497117 NA NA 0.02577 0.006503 NA 0.014 NA 3.94933 1257 1 12316371 12316371 G T intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs235247 0.03 0.03 0.032 0.0329473 0.0099 NA 0.0159 0.1029 0.0082 0.01 NA 0.02 0.11 0.0216 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188876 NA NA 0.019186 0.104176 NA 0.022 NA 3.949314 1257 1 21806840 21806840 G A intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs150499904 0.09 0.09 0.049 0.048722 0.0507 NA 0.0403 0.1029 0.0297 0.1 0.04 0.07 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.044087 NA NA NA NA NA 0.043 NA 3.9493 1257 1 54717654 54717654 T C intronic SSBP3 NA NA NA intronic ENSG00000157216 NA NA NA NA NA 1p32.3 NA NA NA NA rs2297029 0.06 0.06 0.035 0.104433 0.0507 0.0387 0.0865 0.093 0.2556 0.05 0.03 0.1 0.07 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147747 NA NA NA NA NA 0.051 NA 3.9493 1257 9 113213740 113213740 T C intronic SVEP1 NA NA NA intronic ENSG00000165124 NA NA NA NA NA 9q31.3 NA NA NA NA rs10817022 0.02 0.02 0.02 0.0189696 0.0507 NA 0.0432 0.0023 0.0112 0.05 NA 0.04 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860877 NA NA NA NA NA 0.007 NA 3.9493 1257 15 42443049 42443049 G A intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs74009020 0.17 0.17 0.157 0.21226 0.0507 0.1121 0.3055 0.4266 0.1258 0.04 0.09 0.24 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172323 NA NA NA NA NA 0.203 NA 3.9493 1257 15 72899991 72899991 C T intergenic MIR630,GOLGA6B dist=20337;dist=47047 NA NA ncRNA_intronic ENSG00000260144 NA NA NA NA NA 15q24.1 NA NA NA NA rs28435710 0.12 0.12 0.108 0.131989 0.0507 0.002 0.147 0.3669 0.0215 0.03 0.0035 0.13 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763054 NA NA NA NA NA 0.123 NA 3.9493 1257 16 78143584 78143584 G T intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs117470523 0.02 0.02 0.028 0.01877 0.0507 NA 0.0288 0.003 0.0194 0.05 NA 0.03 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384811 NA NA NA NA NA 0.036 NA 3.9493 1257 6 30861000 30861000 C T intronic DDR1 NA NA NA intronic ENSG00000204580 NA NA NA NA NA 6p21.33 NA Name=Rad21,CTCF,CTCF_(SC-5916) NA NA rs1264320 0.24 0.24 0.253 0.222843 0.3559 0.248 0.2075 0.0983 0.2393 0.35 0.28 0.2 0.06 0.325 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851188 NA NA 0.36997 0.139192 NA 0.239 NA 3.94913 1257 6 94067981 94067981 C T exonic EPHA7 NA synonymous SNV EPHA7:NM_004440:exon4:c.G981A:p.A327A exonic ENSG00000135333 NA synonymous SNV ENSG00000135333:ENST00000369303:exon4:c.G981A:p.A327A NA NA 6q16.1 NA NA NA NA rs164544 0.72 0.72 0.723 0.730431 0.5527 0.8294 0.6455 0.8911 0.6544 0.59 0.83 0.59 0.88 0.6284 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418665 NA NA 0.536744 0.830458 NA 0.652 NA 3.9488226 1257 1 201031059 201031059 A G intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs41267501 0.01 0.01 0.006 0.0115815 0.0129 NA 0.0159 0.0008 0.0337 0.01 NA 0.02 NA 0.0179 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189981 NA NA 0.020465 0.002724 NA NA NA 3.948735 1257 17 56440542 56440542 G T intronic RNF43 NA NA NA ncRNA_intronic ENSG00000265148 NA NA NA NA NA 17q22 NA NA NA NA rs2680700 0.28 0.28 0.244 0.247204 0.3847 0.2103 0.3199 0.143 0.2331 0.38 0.24 0.32 0.14 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160639 NA NA NA NA NA 0.348 NA 3.9486333 1257 10 94733781 94733781 G T intronic EXOC6 NA NA NA intronic ENSG00000138190 NA NA NA NA NA 10q23.33 NA NA NA NA rs41290182 0.01 0.01 0.006 0.0091853 0.0199 NA 0.0173 0.0015 0.0123 0.02 NA 0.02 0.0041 0.014 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156417 NA NA 0.017558 0.001589 NA NA NA 3.948542 1257 10 127460952 127460952 G T intronic MMP21 NA NA NA intronic ENSG00000154485 NA NA NA NA NA 10q26.13 NA Name=ZNF263,CTCF NA NA rs10901424 0.25 0.25 0.25 0.211262 0.3748 0.13 0.2435 0.1649 0.1667 0.37 0.13 0.26 0.18 0.2953 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414983 NA NA 0.381512 0.195415 ID=COSN163807;OCCURENCE=1(breast) 0.261 NA 3.948388 1257 2 95818809 95818809 C A intronic ZNF514 NA NA NA intronic ENSG00000144026 NA NA NA NA NA 2q11.1 NA NA NA NA rs79435252 0.03 0.03 0.019 0.0249601 0.0517 NA 0.072 0.003 0.0194 0.06 NA 0.07 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672575 NA NA NA NA NA 0.014 NA 3.9483 1257 8 2042036 2042036 C T intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs7841053 0.06 0.06 0.052 0.0593051 0.0517 0.0238 0.062 0.1293 0.0072 0.05 0.03 0.07 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323221 NA NA NA NA NA 0.029 NA 3.9483 1257 9 18639484 18639484 C T intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA NA NA NA rs702207 0.09 0.09 0.095 0.0986422 0.0517 0.001 0.0533 0.3041 0.002 0.05 NA 0.06 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366662 NA NA NA NA NA 0.087 NA 3.9483 1257 1 220978659 220978659 G A intronic MARC1 NA NA NA intronic ENSG00000186205 NA NA NA NA NA 1q41 NA NA NA NA rs72472335 0.05 0.05 0.044 0.0499201 0.0149 0.0496 0.0303 0.0726 0.0695 0.01 0.07 0.03 0.08 0.0267 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666075 NA NA 0.010233 0.063096 NA 0.058 NA 3.948167 1257 12 124427887 124427887 G C intronic CCDC92 NA NA NA intronic ENSG00000119242 NA NA NA NA NA 12q24.31 NA NA NA NA rs111854458 0.01 0.01 0.008 0.00798722 0.0189 0.005 0.0072 0.0008 0.0102 0.02 NA 0.01 0.002 0.0133 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088754 NA NA 0.019767 0.004085 NA 0.014 NA 3.948033 1257 5 13867851 13867851 G A intronic DNAH5 NA NA NA ncRNA_intronic ENSG00000251423 NA NA NA NA NA 5p15.2 NA NA NA NA rs13156044 0.12 0.12 0.115 0.101438 0.1451 0.1032 0.0821 0.1256 0.0358 0.15 0.09 0.09 0.14 0.109 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162385 NA NA 0.131395 0.117794 NA 0.101 NA 3.9478383 1257 11 17515833 17515833 A G UTR3 USH1C NM_005709:c.*78T>C,NM_153676:c.*46T>C NA NA UTR3 ENSG00000006611 ENST00000318024:c.*78T>C,ENST00000526313:c.*451T>C,ENST00000527720:c.*78T>C,ENST00000527020:c.*78T>C NA NA NA NA 11p15.1 NA NA Name=4 NA rs1055574 0.38 0.38 0.375 0.370407 0.4602 0.2946 0.3199 0.3873 0.3691 0.48 0.28 0.33 0.38 0.4536 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738958 NA NA 0.471815 0.414545 NA 0.457 NA 3.9477184 1257 14 51371150 51371150 C T UTR3 ABHD12B NM_181814:c.*66C>T,NM_001206673:c.*66C>T NA NA UTR3 ENSG00000131969 ENST00000395752:c.*66C>T,ENST00000557345:c.*668C>T,ENST00000337334:c.*66C>T,ENST00000382029:c.*844C>T,ENST00000353130:c.*66C>T NA NA NA NA 14q22.1 NA NA NA NA rs11157781 0.3 0.3 0.28 0.283746 0.2028 0.4573 0.3876 0.1649 0.2751 0.21 0.47 0.38 0.18 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742817 NA NA 0.182904 0.138728 NA 0.188 NA 3.9476294 1257 22 38609950 38609950 G A intronic MAFF NA NA NA intronic ENSG00000185022 NA NA NA NA NA 22q13.1 NA NA Name=7 NA rs2235264 0.44 0.44 0.414 0.363019 0.5308 0.5179 0.4971 0.1142 0.272 0.56 0.53 0.47 0.13 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562088 NA NA 0.521684 0.193642 NA 0.275 NA 3.947516 1257 3 18580572 18580572 C A intergenic SATB1,KCNH8 dist=100307;dist=609445 NA NA ncRNA_exonic ENSG00000236570 NA NA NA NA NA 3p24.3 NA NA NA NA rs1849591 0.15 0.15 0.131 0.155351 0.0527 0.2659 0.2651 0.1309 0.1022 0.05 0.28 0.19 0.1 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394681 NA NA NA NA NA 0.138 NA 3.9473 1257 3 18580998 18580998 A C intergenic SATB1,KCNH8 dist=100733;dist=609019 NA NA ncRNA_exonic ENSG00000236570 NA NA NA NA NA 3p24.3 NA NA NA NA rs1887788 0.15 0.15 0.138 0.15615 0.0527 0.2659 0.2651 0.1331 0.1033 0.05 0.28 0.19 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21206 NA NA NA NA ID=COSN166828;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.138 NA 3.9473 1257 4 876399 876399 T C intronic GAK NA NA NA intronic ENSG00000178950 NA NA NA NA NA 4p16.3 NA NA NA NA rs3736086 0.04 0.04 0.028 0.0471246 0.0527 0.0615 0.0432 0.0159 0.0716 0.05 0.07 0.04 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625569 NA NA NA NA NA 0.043 NA 3.9473 1257 7 11297830 11297830 C T intergenic PHF14,THSD7A dist=150454;dist=112232 NA NA ncRNA_exonic ENSG00000226827 NA NA NA NA NA 7p21.3 NA NA NA NA rs76650346 0.04 0.04 0.038 0.0377396 0.0527 0.0208 0.0634 0.0257 0.0378 0.06 0.02 0.07 0.03 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081122 NA NA NA NA NA 0.043 NA 3.9473 1257 7 11297930 11297930 A G intergenic PHF14,THSD7A dist=150554;dist=112132 NA NA ncRNA_exonic ENSG00000226827 NA NA NA NA NA 7p21.3 NA NA NA NA rs75798507 0.05 0.05 0.039 0.0379393 0.0527 0.0208 0.0634 0.0265 0.0378 0.06 0.02 0.07 0.03 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143808 NA NA NA NA NA 0.043 NA 3.9473 1257 7 129122570 129122570 C G intronic STRIP2 NA NA NA intronic ENSG00000128578 NA NA NA NA NA 7q32.1 NA NA NA NA rs62489116 0.03 0.03 0.023 0.0195687 0.0527 NA 0.0331 0.003 0.0184 0.06 NA 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117581 NA NA NA NA NA 0.087 NA 3.9473 1257 11 18993687 18993687 T C intergenic MRGPRX1,MRGPRX2 dist=37138;dist=82316 NA NA ncRNA_exonic ENSG00000254720 NA NA NA NA NA 11p15.1 NA NA NA NA rs116928985 0.03 0.03 0.017 0.023762 0.0527 0.001 0.0663 0.0038 0.0143 0.06 0.0017 0.04 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192395 NA NA NA NA NA 0.036 NA 3.9473 1257 14 20864720 20864720 G A intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs77610051 0.05 0.05 0.053 0.0583067 0.0527 NA 0.0274 0.1165 0.0675 0.06 NA 0.03 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710263 NA NA NA NA NA 0.036 NA 3.9473 1257 19 55019045 55019045 C T intronic LAIR2 NA NA NA intronic ENSG00000167618 NA NA NA NA NA 19q13.42 NA NA NA NA rs140904924 0.04 0.04 0.029 0.048123 0.0527 0.0089 0.0504 0.0401 0.093 0.05 0.01 0.07 0.03 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861883 NA NA NA NA NA NA NA 3.9473 1257 2 43625078 43625078 T C intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA NA NA 2p21 NA Name=GATA3_(SC-268),FOXA1_(C-20) NA NA rs7605661 0.31 0.31 0.321 0.323083 0.3598 0.0337 0.2392 0.5537 0.3313 0.37 0.05 0.26 0.57 0.3346 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037527 NA NA 0.358345 0.477749 ID=COSN166077;OCCURENCE=1(breast) 0.377 NA 3.947255 1257 7 117867945 117867945 T C intronic ANKRD7 NA NA NA intronic ENSG00000106013 NA NA NA NA NA 7q31.31 NA NA NA NA rs6961495 0.05 0.05 0.046 0.0457268 0.0139 0.0645 0.0461 0.0703 0.0256 0.01 0.07 0.07 0.07 0.0297 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198103 NA NA 0.009223 0.063918 NA 0.022 NA 3.947177 1257 19 51919140 51919140 G A intronic SIGLEC10 NA NA NA ncRNA_exonic ENSG00000255441 NA NA NA NA NA 19q13.41 NA NA NA NA rs3810101 0.2 0.2 0.176 0.260982 0.1909 0.2589 0.2075 0.3661 0.2311 0.15 0.18 0.17 0.3 0.1955 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151856 NA NA NA NA NA 0.21 NA 3.9469333 1257 7 117874610 117874610 G A intronic ANKRD7 NA NA NA intronic ENSG00000106013 NA NA NA NA NA 7q31.31 NA NA NA NA rs55759859 0.05 0.05 0.048 0.0457268 0.0139 0.0645 0.0461 0.0703 0.0256 0.01 0.07 0.07 0.07 0.0299 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.10068 NA NA 0.009434 0.063601 NA 0.022 NA 3.946766 1257 19 3750622 3750622 A C exonic TJP3 NA synonymous SNV TJP3:NM_001267560:exon21:c.A2700C:p.V900V,TJP3:NM_001267561:exon21:c.A2727C:p.V909V exonic ENSG00000105289 NA synonymous SNV ENSG00000105289:ENST00000262968:exon20:c.A2799C:p.V933V,ENSG00000105289:ENST00000539908:exon20:c.A2592C:p.V864V,ENSG00000105289:ENST00000587686:exon20:c.A2757C:p.V919V,ENSG00000105289:ENST00000382008:exon21:c.A2742C:p.V914V,ENSG00000105289:ENST00000541714:exon21:c.A2700C:p.V900V,ENSG00000105289:ENST00000589378:exon21:c.A2727C:p.V909V NA NA 19p13.3 NA NA NA NA rs1046271 0.59 0.59 0.553 0.596246 0.5636 0.6409 0.7075 0.5212 0.6063 0.54 0.68 0.69 0.51 0.6012 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.044187 NA NA 0.555142 0.538811 NA 0.645 NA 3.9467246 1257 2 132580319 132580319 T G intergenic C2orf27B,ANKRD30BL dist=21085;dist=324845 NA NA intergenic ENSG00000186825,ENSG00000229203 dist=21085;dist=7055 NA NA NA NA 2q21.2 NA Name=CTCF NA NA rs12474476 0.39 0.39 0.346 0.436102 0.3867 0.3323 0.3718 0.5303 0.5123 0.38 0.33 0.36 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633953 NA NA NA NA NA 0.014 NA 3.9466334 1257 11 2790019 2790019 G A intronic KCNQ1 NA NA NA intronic ENSG00000053918 NA NA NA NA NA 11p15.5 NA NA NA NA rs2075870 0.1 0.1 0.089 0.0908546 0.0229 0.2073 0.0331 0.0855 0.089 0.02 0.23 0.02 0.11 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24556 NA NA 0.030484 0.102601 NA 0.065 NA 3.946616 1257 5 156375420 156375420 C T intronic TIMD4 NA NA NA intronic ENSG00000145850 NA NA NA NA NA 5q33.3 NA NA NA NA rs138454661 0.01 0.01 0.006 0.00599042 0.0209 NA 0.0086 NA 0.0031 0.02 NA 0.01 NA 0.0149 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678217 NA NA 0.017674 0.002043 NA 0.007 NA 3.946526 1257 4 81001940 81001940 T C intergenic ANTXR2,PRDM8 dist=7463;dist=104484 NA NA ncRNA_exonic ENSG00000236530 NA NA NA NA NA 4q21.21 NA NA NA NA rs2867698 0.08 0.08 0.083 0.113219 0.0537 0.0794 0.0461 0.1513 0.2055 0.05 0.06 0.04 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.667949 NA NA NA NA NA 0.101 NA 3.9463 1257 6 29896466 29896466 C T intergenic HCG4B,HLA-A dist=3038;dist=13781 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259853 0.05 0.05 0.045 0.0507188 0.0537 0.0456 0.0331 0.0552 0.0593 0.05 0.05 0.04 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682672 NA NA NA NA NA 0.022 NA 3.9463 1257 6 29896481 29896481 C A intergenic HCG4B,HLA-A dist=3053;dist=13766 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259854 0.05 0.05 0.044 0.0507188 0.0537 0.0456 0.0331 0.0552 0.0593 0.05 0.05 0.03 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121963 NA NA NA NA NA 0.022 NA 3.9463 1257 8 41585579 41585579 G A intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs80118742 0.03 0.03 0.023 0.023762 0.0537 0.001 0.0504 0.0159 0.0082 0.06 NA 0.04 0.02 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222681 NA NA NA NA NA 0.109 NA 3.9463 1257 10 49448329 49448329 A G intronic FRMPD2 NA NA NA intronic ENSG00000170324 NA NA NA NA NA 10q11.22 NA NA NA NA rs7092864 0.13 0.13 0.128 0.133187 0.0537 0.0268 0.0634 0.3858 0.0327 0.05 0.01 0.08 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133773 NA NA NA NA NA 0.196 NA 3.9463 1257 10 95134461 95134461 C T intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA NA NA rs1886076 0.07 0.07 0.063 0.0585064 0.0537 NA 0.0461 0.1536 0.0041 0.05 NA 0.07 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647373 NA NA NA NA NA 0.08 NA 3.9463 1257 11 117376111 117376111 A C intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs11216430 0.13 0.13 0.131 0.140375 0.0537 0.0843 0.1124 0.3169 0.0685 0.06 0.08 0.12 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340285 NA NA NA NA NA 0.188 NA 3.9463 1257 14 95675883 95675883 C G intronic CLMN NA NA NA intronic ENSG00000165959 NA NA NA NA NA 14q32.13 NA NA NA NA rs17091921 0.07 0.07 0.083 0.0738818 0.0537 NA 0.0504 0.2035 0.0123 0.05 NA 0.04 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519498 NA NA NA NA NA 0.13 NA 3.9463 1257 22 20128674 20128674 T C intronic ZDHHC8 NA NA NA intronic ENSG00000099904 NA NA NA NA NA 22q11.21 NA NA NA NA rs79425519 0.05 0.05 0.06 0.0623003 0.0537 0.0823 0.0115 0.0484 0.1053 0.06 0.07 0.01 0.04 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.737668 NA NA NA NA NA 0.051 NA 3.9463 1257 3 186006487 186006487 G T intronic DGKG NA NA NA intronic ENSG00000058866 NA NA NA NA NA 3q27.3 NA NA NA NA rs79635827 0.01 0.01 0.006 0.00638978 0.0209 NA 0.0144 NA 0.001 0.02 NA 0.01 0.002 0.0127 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.122956 4.122956 NA 0.020116 0.004312 NA NA NA 3.946284 1257 9 33926692 33926692 G A intronic UBAP2 NA NA NA intronic ENSG00000137073 NA NA NA NA NA 9p13.3 NA NA NA NA rs2296364 0.03 0.03 0.023 0.0145767 0.0149 0.0536 NA 0.0008 0.0031 0.02 0.08 NA 0.002 0.0179 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90254 NA NA 0.02093 0.004766 NA 0.007 NA 3.94627 1257 2 17953850 17953850 A G intronic GEN1 NA NA NA intronic ENSG00000163029,ENSG00000178295 NA NA NA NA NA 2p24.2 NA NA NA NA rs116651705 0.02 0.02 0.015 0.0205671 0.0209 NA 0.0259 0.0393 0.0123 0.03 NA 0.02 0.03 0.0156 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032086 NA NA 0.017378 0.029854 NA 0.014 NA 3.946122 1257 15 52539235 52539235 A C intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA NA NA rs41504447 0.08 0.08 0.077 0.0832668 0.0099 0.1071 0.0548 0.174 0.0317 0.01 0.11 0.05 0.18 0.0342 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432542 1.432542 NA 0.009863 0.122001 NA 0.094 NA 3.946037 1257 10 1041981 1041981 C G intronic GTPBP4 NA NA NA intronic ENSG00000107937 NA NA NA NA NA 10p15.3 NA NA NA NA rs148276311 0.01 0.01 0.008 0.0165735 0.0149 NA 0.0778 0.0015 0.0123 0.01 NA 0.05 0.002 0.0216 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.384005 1.384005 NA 0.017674 0.005674 NA 0.022 NA 3.945826 1257 1 7725284 7725284 C A intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 Score=919;Name=V$MYCMAX_02 NA NA NA rs4908671 0.23 0.23 0.227 0.228235 0.3678 0.0903 0.1988 0.1384 0.3691 0.39 0.1 0.24 0.14 0.3288 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.668448 NA NA 0.357712 0.155005 NA 0.29 NA 3.945688 1257 1 43812075 43812075 G A intronic MPL NA NA NA intronic ENSG00000117400 NA NA NA NA NA 1p34.2 NA NA Name=3 NA rs1760670 0.27 0.27 0.236 0.209665 0.3708 0.0843 0.3646 0.1944 0.0838 0.38 0.08 0.38 0.21 0.3032 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596453 NA NA 0.380349 0.229006 NA 0.348 NA 3.945651 1257 5 148618708 148618708 A G intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs58203769 0.42 0.42 0.397 0.438498 0.3877 0.6399 0.3746 0.3298 0.4755 0.38 0.59 0.35 0.36 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028271 NA NA NA NA NA 0.42 NA 3.9456333 1257 4 68938002 68938002 G A ncRNA_intronic LOC550113 NA NA NA ncRNA_intronic ENSG00000248049 NA NA NA NA NA 4q13.2 NA NA NA NA rs12501405 0.23 0.23 0.22 0.242612 0.2674 0.1349 0.4179 0.2156 0.2403 0.27 0.13 0.37 0.2 0.2524 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950156 NA NA 0.201444 0.188238 NA 0.217 NA 3.9454226 1257 1 38018150 38018150 T C intronic SNIP1 NA NA NA intronic ENSG00000163877 NA NA NA NA NA 1p34.3 NA NA NA NA rs72657793 0.14 0.14 0.016 0.0231629 0.0547 0.0089 0.0202 0.003 0.0348 0.18 0.09 0.09 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793742 NA NA NA NA NA 0.036 NA 3.9453 1257 1 38023148 38023148 T C intronic DNALI1 NA NA NA intronic ENSG00000163879 NA NA NA NA NA 1p34.3 NA NA NA NA rs72657795 0.03 0.03 0.017 0.0229633 0.0547 0.0089 0.0202 0.0023 0.0348 0.06 0.0035 0.02 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520376 NA NA NA NA NA 0.029 NA 3.9453 1257 1 38033217 38033217 G C intronic GNL2 NA NA NA intronic ENSG00000134697 NA NA NA NA NA 1p34.3 NA NA NA NA rs41307894 0.03 0.03 0.013 0.0229633 0.0547 0.0089 0.0202 0.0023 0.0348 0.06 0.0035 0.02 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529863 NA NA NA NA NA 0.029 NA 3.9453 1257 1 41578864 41578864 G A intronic SCMH1 NA NA NA intronic ENSG00000010803 NA NA NA NA NA 1p34.2 NA NA NA NA rs116263867 0.02 0.02 0.019 0.014976 0.0547 NA 0.0245 0.0008 0.002 0.05 NA 0.03 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141331 NA NA NA NA NA 0.014 NA 3.9453 1257 1 204945665 204945665 G A intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs6668275 0.09 0.09 0.091 0.0826677 0.0547 0.0099 0.0403 0.2254 0.0235 0.06 0.01 0.05 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080133 NA NA NA NA NA 0.116 NA 3.9453 1257 3 130947273 130947273 A G intronic NEK11 NA NA NA intronic ENSG00000114670 NA NA NA NA NA 3q22.1 NA NA NA NA rs3737999 0.27 0.27 0.259 0.272564 0.0547 0.2966 0.2161 0.6014 0.0675 0.04 0.3 0.2 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480785 NA NA NA NA NA 0.275 NA 3.9453 1257 6 25812069 25812069 A G intronic SLC17A1 NA NA NA intronic ENSG00000124568 NA NA NA NA NA 6p22.2 NA NA NA NA rs10498730 0.02 0.02 0.025 0.0255591 0.0547 0.0109 0.0202 0.0023 0.046 0.05 0.01 0.01 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329691 NA NA NA NA NA 0.036 NA 3.9453 1257 6 144184134 144184134 T C intronic LTV1 NA NA NA intronic ENSG00000135521 NA NA NA NA NA 6q24.2 NA NA NA NA rs17073138 0.04 0.04 0.027 0.0505192 0.0547 0.002 0.0231 0.0696 0.09 0.05 0.01 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.703408 NA NA NA NA NA 0.043 NA 3.9453 1257 11 65412696 65412696 T C intronic SIPA1 NA NA NA intronic ENSG00000213445 NA NA NA NA NA 11q13.1 NA NA NA NA rs72939178 0.03 0.03 0.022 0.0217652 0.0547 NA 0.0274 0.0053 0.0286 0.05 NA 0.03 0.01 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041641 NA NA NA NA NA 0.065 NA 3.9453 1257 17 55918466 55918466 G A intronic MRPS23 NA NA NA intronic ENSG00000181610 NA NA NA NA NA 17q22 NA NA NA NA rs112671856 0.02 0.02 0.024 0.0181709 0.0547 NA 0.0202 0.0015 0.0204 0.05 NA 0.02 0.002 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656454 NA NA NA NA NA 0.014 NA 3.9453 1257 17 79027402 79027402 C T intronic BAIAP2 NA NA NA intronic ENSG00000175866 NA NA NA NA NA 17q25.3 NA NA NA NA rs117198875 0.04 0.04 0.019 0.0469249 0.0547 NA 0.1427 0.0015 0.0808 0.05 NA 0.14 0.0041 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18968 NA NA NA NA NA 0.022 NA 3.9453 1257 20 60738070 60738070 C T intronic SS18L1 NA NA NA intronic ENSG00000184402 NA NA NA NA NA 20q13.33 NA NA NA NA rs73309158 0.04 0.04 0.041 0.0587061 0.0547 0.003 0.0418 0.1112 0.0613 0.05 NA 0.02 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511033 NA NA NA NA NA 0.065 NA 3.9453 1257 22 17402459 17402459 C G intergenic HSFY1P1,GAB4 dist=92234;dist=40368 NA NA ncRNA_exonic ENSG00000253460 NA NA NA NA NA 22q11.1 NA NA NA NA rs13433675 0.06 0.06 0.057 0.0587061 0.0547 NA 0.0533 0.1452 0.0102 0.05 NA 0.05 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906502 NA NA NA NA NA 0.08 NA 3.9453 1257 3 183696402 183696402 A G exonic ABCC5 NA synonymous SNV ABCC5:NM_005688:exon9:c.T1185C:p.A395A exonic ENSG00000114770 NA synonymous SNV ENSG00000114770:ENST00000265586:exon8:c.T1185C:p.A395A,ENSG00000114770:ENST00000334444:exon9:c.T1185C:p.A395A,ENSG00000114770:ENST00000437205:exon9:c.T1185C:p.A395A NA NA 3q27.1 NA NA NA NA rs1132776 0.68 0.68 0.694 0.676518 0.5746 0.8522 0.5879 0.7489 0.5654 0.56 0.86 0.57 0.72 0.5821 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231788 NA NA 0.564693 0.733661 NA 0.703 NA 3.9452736 1257 20 56099305 56099305 G A UTR5 CTCFL NM_001269041:c.-44C>T,NM_001269044:c.-44C>T,NM_001269048:c.-44C>T,NM_001269052:c.-44C>T NA NA UTR5 ENSG00000124092 ENST00000426658:c.-44C>T,ENST00000422109:c.-44C>T,ENST00000433949:c.-44C>T,ENST00000432255:c.-44C>T NA NA NA NA 20q13.31 NA NA Name=3 NA rs11699220 0.37 0.37 0.32 0.344449 0.499 0.3988 0.3429 0.1097 0.4479 0.49 0.44 0.39 0.11 0.4268 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766204 NA NA 0.462371 0.156758 NA 0.348 NA 3.9451624 1257 5 169535522 169535522 T C exonic FOXI1 NA synonymous SNV FOXI1:NM_012188:exon2:c.T1044C:p.Y348Y,FOXI1:NM_144769:exon2:c.T759C:p.Y253Y exonic ENSG00000168269 NA synonymous SNV ENSG00000168269:ENST00000306268:exon2:c.T1044C:p.Y348Y,ENSG00000168269:ENST00000449804:exon2:c.T759C:p.Y253Y Score=329;Name=lod=29 NA 5q35.1 NA NA NA NA rs10063424 0.94 0.94 0.93 0.929513 0.9046 0.9851 0.9294 0.9017 0.9356 0.91 0.98 0.93 0.93 0.9089 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.205154 NA NA 0.908023 0.906718 NA 0.855 NA 3.9451436 1258 17 42153562 42153562 G C UTR3 G6PC3 NM_138387:c.*151G>C NA NA UTR3 ENSG00000141349 ENST00000269097:c.*151G>C,ENST00000588558:c.*1167G>C,ENST00000585361:c.*1029G>C,ENST00000590253:c.*485G>C NA NA NA NA 17q21.31 NA NA NA NA rs1046770 0.1 0.1 0.089 0.10024 0.2058 0.0149 0.1138 0.0386 0.1534 0.2 0.02 0.14 0.04 0.1826 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232978 NA NA NA NA NA 0.043 NA 3.9449334 1258 7 107613379 107613379 G A intronic LAMB1 NA NA NA intronic ENSG00000091136 NA NA NA NA NA 7q31.1 NA Name=STAT3 NA NA rs2701034 0.66 0.66 0.666 0.665535 0.5298 0.751 0.5389 0.8132 0.6074 0.54 0.75 0.54 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054846 NA NA 0.525456 0.789017 NA 0.493 NA 3.944744 1258 9 135961787 135961787 A G ncRNA_exonic CELP NA NA NA ncRNA_exonic ENSG00000170827 NA NA NA NA NA 9q34.2 NA NA NA NA rs10901232 0.29 0.29 0.207 0.227636 0.4105 0.2113 0.4078 0.0961 0.1063 0.39 0.22 0.41 0.12 0.3118 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780605 NA NA NA NA NA 0.232 NA 3.9443666 1258 3 16260775 16260775 C G intronic GALNT15 NA NA NA intronic ENSG00000131386 NA NA NA NA NA 3p25.1 NA NA NA NA rs73818324 0.05 0.05 0.046 0.0589058 0.0557 0.002 0.0994 0.0953 0.0429 0.05 0.0017 0.09 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.782034 3.782034 NA NA NA NA 0.058 NA 3.9443 1258 9 500979 500979 T C intronic KANK1 NA NA NA intronic ENSG00000107104 NA NA NA NA NA 9p24.3 NA NA NA NA rs10118798 0.2 0.2 0.24 0.252396 0.0557 0.003 0.0951 0.7685 0.1258 0.05 0.01 0.1 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466822 NA NA NA NA NA 0.283 NA 3.9443 1258 10 82185828 82185828 G A intronic FAM213A NA NA NA intronic ENSG00000122378 NA NA NA NA NA 10q23.1 NA NA NA NA rs77000305 0.07 0.07 0.066 0.0752796 0.0557 0.001 0.0432 0.1906 0.0389 0.06 0.0017 0.05 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899015 NA NA NA NA NA 0.116 NA 3.9443 1258 11 18722371 18722371 A T intronic TMEM86A NA NA NA intronic ENSG00000151117 NA NA NA NA NA 11p15.1 NA NA NA NA rs74441348 0.03 0.03 0.027 0.0159744 0.0557 NA 0.0303 NA 0.0031 0.06 NA 0.04 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113861 NA NA NA NA NA 0.116 NA 3.9443 1258 11 27395447 27395447 C T intronic LGR4 NA NA NA intronic ENSG00000205213 NA NA NA NA NA 11p14.1 NA NA NA NA rs77328098 0.03 0.03 0.034 0.0245607 0.0557 0.002 0.0389 0.0234 0.0072 0.06 NA 0.05 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.148169 NA NA NA NA NA 0.029 NA 3.9443 1258 11 27401703 27401703 G A intronic LGR4 NA NA NA intronic ENSG00000205213 NA NA NA NA NA 11p14.1 NA NA NA NA rs78698326 0.03 0.03 0.018 0.0245607 0.0557 0.002 0.0389 0.0234 0.0072 0.06 NA 0.05 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14826 NA NA NA NA NA 0.029 NA 3.9443 1258 17 3928080 3928080 G A intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs16953649 0.04 0.04 0.032 0.0313498 0.0557 0.003 0.0418 0.025 0.0368 0.07 0.01 0.05 0.04 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793158 NA NA NA NA NA 0.109 NA 3.9443 1258 14 99876505 99876505 A G UTR3 SETD3 NM_199123:c.*6T>C NA NA UTR3 ENSG00000183576 ENST00000329331:c.*6T>C NA NA NA NA 14q32.2 NA NA Name=3 NA rs1047351 0.56 0.56 0.529 0.557109 0.4483 0.5665 0.6009 0.6354 0.5225 0.45 0.59 0.62 0.64 0.5074 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164322 NA NA 0.433488 0.625511 NA 0.507 NA 3.9441454 1258 19 39787556 39787556 C G intronic IFNL1 NA NA NA intronic ENSG00000182393 NA NA NA NA NA 19q13.2 NA NA NA NA rs56016435 0.03 0.03 0.027 0.0251597 0.0199 NA 0.0173 0.053 0.0245 0.02 NA 0.03 0.07 0.0188 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29163 NA NA 0.017674 0.054698 NA 0.087 NA 3.943626 1258 19 5867748 5867748 G T UTR5 FUT5 NM_002034:c.-12C>A NA NA exonic ENSG00000267740 NA unknown UNKNOWN NA NA 19p13.3 NA Name=CTCF,CTCFL_(SC-98982) NA NA rs778971 0.62 0.62 0.583 0.638778 0.5577 0.8065 0.6556 0.4652 0.772 0.55 0.81 0.66 0.47 0.6098 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393401 NA NA 0.555776 0.493642 NA 0.457 NA 3.9433907 1258 5 169461399 169461399 G A intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA Name=4 NA rs3763047 0.45 0.45 0.493 0.499201 0.332 0.6052 0.3127 0.643 0.5 0.33 0.56 0.33 0.6 0.3921 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733976 NA NA 0.332558 0.600091 NA 0.464 NA 3.943342 1258 4 70267499 70267499 G A intergenic UGT2B28,UGT2B4 dist=106731;dist=78384 NA NA ncRNA_intronic ENSG00000215110 NA NA NA NA NA 4q13.2 NA NA NA NA rs114119206 0.09 0.09 0.074 0.0896565 0.0567 0.2133 0.0922 0.003 0.1115 0.06 0.22 0.07 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520129 NA NA NA NA NA 0.051 NA 3.9433 1258 11 6088738 6088738 C T intergenic OR56A1,OR56B4 dist=39767;dist=40271 NA NA ncRNA_exonic ENSG00000234895 NA NA NA NA NA 11p15.4 NA NA NA NA rs59722231 0.16 0.16 0.153 0.174521 0.0567 0.122 0.1354 0.3752 0.1063 0.06 0.15 0.12 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146812 NA NA NA NA NA 0.217 NA 3.9433 1258 20 22866518 22866518 G A intergenic FOXA2,SSTR4 dist=300417;dist=149539 NA NA ncRNA_exonic ENSG00000213882 NA NA NA NA NA 20p11.21 NA NA NA NA rs4815151 0.07 0.07 0.059 0.0942492 0.0567 0.1389 0.1326 0.0023 0.184 0.06 0.12 0.12 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186295 NA NA NA NA NA 0.029 NA 3.9433 1258 1 32502430 32502430 T A intronic KHDRBS1 NA NA NA intronic ENSG00000121774 NA NA NA NA NA 1p35.1 NA NA NA NA rs3738002 0.11 0.11 0.09 0.167732 0.0567 0.2371 0.2104 0.0779 0.3016 0.06 0.23 0.12 0.06 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935826 NA NA NA NA NA 0.196 NA 3.9433 1258 1 32557673 32557673 C T intronic TMEM39B NA NA NA intronic ENSG00000121775 NA NA NA NA NA 1p35.1 NA NA NA NA rs744454 0.1 0.1 0.087 0.145367 0.0567 0.2351 0.1988 0.0159 0.2812 0.06 0.23 0.1 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021286 NA NA NA NA NA 0.13 NA 3.9433 1258 1 32623108 32623108 A G intronic KPNA6 NA NA NA intronic ENSG00000025800 NA NA NA NA NA 1p35.1 NA NA NA NA rs41311207 0.11 0.11 0.084 0.163538 0.0567 0.2321 0.2104 0.0779 0.2853 0.06 0.22 0.12 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281628 NA NA NA NA NA 0.145 NA 3.9433 1258 1 32672784 32672784 G C intronic IQCC NA NA NA intronic ENSG00000160051 NA NA NA NA NA 1p35.1 NA NA NA NA rs56663136 0.14 0.14 0.136 0.209265 0.0567 0.2302 0.232 0.2466 0.2781 0.05 0.2 0.13 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.433165 2.433165 NA NA NA NA NA NA 3.9433 1258 1 32672785 32672785 A T intronic IQCC NA NA NA intronic ENSG00000160051 NA NA NA NA NA 1p35.1 NA NA NA NA rs60559680 0.14 0.14 0.132 0.209265 0.0567 0.2302 0.232 0.2466 0.2781 0.05 0.2 0.13 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.763322 2.763322 NA NA NA NA NA NA 3.9433 1258 1 32678506 32678506 C T intronic DCDC2B NA NA NA intronic ENSG00000222046 NA NA NA NA NA 1p35.1 NA NA NA NA rs58238092 0.17 0.17 0.153 0.227436 0.0567 0.2302 0.2378 0.3056 0.2873 0.06 0.21 0.15 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961634 NA NA NA NA NA 0.188 NA 3.9433 1258 1 220965086 220965086 G C intronic MARC1 NA NA NA intronic ENSG00000186205 NA NA NA NA NA 1q41 NA NA NA NA rs3738177 0.21 0.21 0.203 0.229433 0.0567 0.3065 0.2147 0.3555 0.1677 0.05 0.31 0.19 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107471 NA NA NA NA NA 0.21 NA 3.9433 1258 6 90048113 90048113 T C intronic UBE2J1 NA NA NA intronic ENSG00000198833 NA NA NA NA NA 6q15 NA NA NA NA rs74949641 0.06 0.06 0.068 0.0646965 0.0567 NA 0.0476 0.1271 0.0675 0.06 NA 0.06 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335763 1.335763 NA NA NA NA 0.065 NA 3.9433 1258 10 81318551 81318551 C T intronic SFTPA2 NA NA NA intronic ENSG00000185303 NA NA NA NA NA 10q22.3 NA NA NA NA rs17881317 0.03 0.03 0.026 0.0277556 0.0567 0.006 0.0216 0.0363 0.0133 0.05 0.01 0.02 0.03 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879422 NA NA NA NA NA 0.022 NA 3.9433 1258 19 7970913 7970913 C A intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs41284496 0.03 0.03 0.03 0.0191693 0.0567 0.001 0.0346 0.0023 0.0112 0.06 0.0017 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046428 NA NA NA NA NA 0.014 NA 3.9433 1258 19 40096089 40096089 T C intronic LGALS13 NA NA NA intronic ENSG00000105198 NA NA NA NA NA 19q13.2 NA NA NA NA rs2233707 0.02 0.02 0.013 0.0189696 0.0567 NA 0.0216 0.0008 0.0225 0.06 NA 0.02 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653269 NA NA NA NA NA 0.007 NA 3.9433 1258 19 55801050 55801050 G A intronic BRSK1 NA NA NA intronic ENSG00000160469 NA NA NA NA NA 19q13.42 NA NA NA NA rs78811144 0.05 0.05 0.032 0.0435304 0.0567 0.0536 0.085 0.0053 0.0419 0.06 0.05 0.07 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815855 NA NA NA NA NA 0.014 NA 3.9433 1258 7 77708129 77708129 G A intronic MAGI2 NA NA NA intronic ENSG00000187391 NA NA NA NA NA 7q21.11 NA NA NA NA rs112512171 NA NA NA 0.0171725 0.0467 0.006 0.0231 0.0038 0.0123 NA NA NA NA 0.0101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06891 NA NA NA NA NA NA NA 3.9432 1258 6 30890206 30890206 T C intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA Name=15 NA rs887381 0.24 0.24 0.231 0.221645 0.3559 0.247 0.2075 0.0968 0.2362 0.35 0.28 0.2 0.06 0.3246 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879974 NA NA 0.376477 0.145557 NA 0.261 NA 3.943023 1258 20 25027331 25027331 G A intronic ACSS1 NA NA NA UTR3 ENSG00000154930 ENST00000376726:c.*147C>T NA NA NA NA 20p11.21 NA NA NA NA rs6132792 0.34 0.34 0.33 0.370807 0.2237 0.2312 0.4121 0.6082 0.316 0.23 0.22 0.37 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087104 NA NA NA NA NA 0.449 NA 3.9429667 1258 12 52863709 52863709 C T intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA Name=FOXA1_(C-20) NA NA rs452600 0.33 0.33 0.309 0.2502 0.3628 0.4812 0.2651 0.0242 0.1912 0.36 0.56 0.32 0.04 0.3271 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213046 NA NA 0.367442 0.07172 NA 0.362 NA 3.942658 1258 1 151847193 151847193 A C UTR3 THEM4 NM_053055:c.*171T>G NA NA UTR3 ENSG00000159445 ENST00000368814:c.*171T>G,ENST00000471464:c.*802T>G NA NA NA NA 1q21.3 NA NA NA NA rs11204907 0.26 0.26 0.21 0.183706 0.3907 0.2679 0.1988 0.0098 0.1084 0.4 0.31 0.23 0.01 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378159 1.378159 NA NA NA NA 0.167 NA 3.9426334 1258 14 79454519 79454519 G C intronic NRXN3 NA NA NA intronic ENSG00000021645 NA NA NA NA NA 14q31.1 NA Name=NANOG_(SC-33759) NA NA rs154325 0.42 0.42 0.416 0.444888 0.33 0.1994 0.5403 0.7579 0.3252 0.34 0.17 0.5 0.77 0.3699 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119515 NA NA 0.357558 0.682025 NA 0.471 NA 3.942542 1258 1 201454385 201454385 C A intronic CSRP1 NA NA NA intronic ENSG00000159176 NA NA NA NA NA 1q32.1 NA NA NA NA rs41304273 0.04 0.04 0.042 0.0555112 0.0149 NA 0.0375 0.177 0.0031 0.01 NA 0.02 0.14 0.0271 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977842 NA NA 0.015581 0.153881 NA 0.043 NA 3.942419 1258 1 230845555 230845555 G A intronic AGT NA NA NA intronic ENSG00000135744 NA NA NA NA NA 1q42.2 NA NA NA NA rs11568054 0.03 0.03 0.024 0.0169728 0.0577 0.001 0.0245 0.0038 0.0041 0.07 NA 0.03 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380358 NA NA NA NA NA 0.029 NA 3.9423 1258 2 7160460 7160460 C T intronic RNF144A NA NA NA intronic ENSG00000151692 NA NA NA NA NA 2p25.1 NA NA NA NA rs72781798 0.03 0.03 0.033 0.038738 0.0577 0.002 0.0173 0.0408 0.0695 0.06 0.0017 0.02 0.04 NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836111 NA NA NA NA NA 0.065 NA 3.9423 1258 7 157936719 157936719 C T intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs73173608 0.07 0.07 0.076 0.0712859 0.0577 0.0129 0.0951 0.1422 0.0327 0.06 0.02 0.09 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487781 NA NA NA NA NA 0.109 NA 3.9423 1258 9 73254184 73254184 C T intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs73451732 0.08 0.08 0.104 0.0804712 0.0577 0.005 0.0476 0.1997 0.044 0.06 0.01 0.04 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890768 NA NA NA NA NA 0.101 NA 3.9423 1258 10 102050344 102050344 A T intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA NA NA NA rs6584357 0.08 0.08 0.075 0.0974441 0.0577 0.0605 0.0634 0.1747 0.0961 0.06 0.07 0.07 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721435 NA NA NA NA NA 0.058 NA 3.9423 1258 10 102052884 102052884 C T intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA NA NA NA rs35662118 0.07 0.07 0.062 0.0840655 0.0577 0.0605 0.0591 0.1248 0.0982 0.06 0.07 0.07 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232242 NA NA NA NA NA 0.051 NA 3.9423 1258 14 20857600 20857600 A G intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs111751048 0.03 0.03 0.033 0.04373 0.0577 NA 0.0288 0.0484 0.0787 0.06 NA 0.03 0.03 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412447 NA NA NA NA NA 0.014 NA 3.9423 1258 1 151340830 151340830 A G intronic SELENBP1 NA NA NA intronic ENSG00000143416 NA NA NA NA NA 1q21.3 NA NA NA NA rs72710113 0.01 0.01 0.006 0.00998403 0.0249 0.001 0.0115 0.0091 0.0041 0.02 NA 0.02 0.002 0.0142 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287847 NA NA 0.018605 0.009305 NA 0.051 NA 3.942295 1258 19 38077474 38077474 G A ncRNA_exonic LOC100507433 NA NA NA ncRNA_exonic ENSG00000267470 NA NA NA NA NA 19q13.12 NA NA NA NA rs2306201 0.19 0.19 0.174 0.171925 0.3618 0.0288 0.2608 0.0613 0.2106 0.37 0.04 0.26 0.05 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.840952 2.840952 NA 0.362665 0.109827 NA 0.29 NA 3.9422016 1258 2 101644496 101644496 C T intronic TBC1D8 NA NA NA intronic ENSG00000204634 NA NA NA NA NA 2q11.2 NA NA NA NA rs62152952 0.01 0.01 0.006 0.00778754 0.0219 NA 0.0202 0.0008 0.002 0.02 NA 0.02 0.002 0.0152 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724861 NA NA 0.020833 0.00221 NA 0.007 NA 3.942067 1258 19 12088164 12088164 C T intronic ZNF763 NA NA NA intronic ENSG00000197054,ENSG00000267179 NA NA NA NA NA 19p13.2 NA NA NA NA rs72988671 0.02 0.02 0.015 0.019369 0.0229 0.006 0.0144 0.0257 0.0245 0.02 0.01 0.02 0.03 0.0167 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942697 NA NA 0.018376 0.026172 NA 0.014 NA 3.942024 1258 19 48386800 48386800 C T intronic SULT2A1 NA NA NA intronic ENSG00000105398 NA NA NA NA NA 19q13.33 NA NA NA NA rs3936308 0.04 0.04 0.046 0.0397364 0.0209 NA 0.0159 0.1233 0.0041 0.02 NA 0.02 0.14 0.0211 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428276 NA NA 0.016047 0.113482 NA 0.058 NA 3.941953 1258 16 15838940 15838940 G C intronic MYH11 NA NA NA intronic ENSG00000133392 NA NA NA NA NA 16p13.11 NA Name=CTCF,CTCF_(SC-5916) Name=8 NA rs2384934 0.84 0.84 0.825 0.871805 0.666 0.999 0.7954 0.9682 0.8763 0.67 1 0.75 0.96 0.7414 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624523 NA NA 0.650849 0.923305 NA 0.819 NA 3.941751 1258 17 1585405 1585405 T G intronic PRPF8 NA NA NA intronic ENSG00000174231 NA NA NA NA NA 17p13.3 NA NA NA NA rs72820383 0.01 0.01 0.011 0.00579073 0.0209 NA 0.0058 NA 0.0041 0.02 NA 0.01 NA 0.0139 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149981 NA NA 0.023605 0.00522 NA 0.007 NA 3.941595 1258 7 6963564 6963564 T C intergenic CCZ1B,LOC100131257 dist=97638;dist=151837 NA NA ncRNA_intronic ENSG00000226943 NA NA NA NA NA 7p22.1 NA NA NA NA rs186185190 0.04 0.04 NA 0.0365415 0.0586 NA 0.1268 0.0045 0.0307 0.06 NA 0.1 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104856 NA NA NA NA NA 0.014 NA 3.9414 1258 5 140821428 140821428 C T intronic PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7 NA NA NA intronic ENSG00000081853,ENSG00000204956,ENSG00000253159,ENSG00000253305,ENSG00000253485,ENSG00000253537,ENSG00000253731,ENSG00000253767,ENSG00000253846,ENSG00000253873,ENSG00000253910,ENSG00000253953,ENSG00000254122,ENSG00000254221,ENSG00000254245,ENSG00000261934,ENSG00000262209,ENSG00000262576 NA NA NA NA NA 5q31.3 NA NA NA NA rs3805696 0.12 0.12 0.124 0.126597 0.0586 0.1181 0.1513 0.171 0.1278 0.07 0.12 0.13 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.011857 NA NA NA NA NA 0.101 NA 3.9414 1258 10 97442308 97442308 T C intronic TCTN3 NA NA NA intronic ENSG00000119977 NA NA NA NA NA 10q24.1 NA NA NA NA rs3818833 0.07 0.07 0.066 0.0692891 0.0586 0.0397 0.0692 0.0908 0.0818 0.05 0.05 0.09 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562646 NA NA NA NA NA 0.058 NA 3.9414 1258 11 32437841 32437841 A C intronic WT1 NA NA NA intronic ENSG00000184937 NA NA NA NA NA 11p13 NA NA NA NA rs5030212 0.03 0.03 0.02 0.0181709 0.0586 0.001 0.0317 0.0015 0.0072 0.06 0.0017 0.03 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015437 NA NA NA NA NA 0.022 NA 3.9414 1258 14 20858715 20858715 A G intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs113176194 0.04 0.04 0.041 0.0577077 0.0586 NA 0.0346 0.0976 0.0787 0.06 NA 0.04 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254413 NA NA NA NA NA 0.029 NA 3.9414 1258 16 55905481 55905481 A G intronic CES5A NA NA NA intronic ENSG00000159398 NA NA NA NA NA 16q12.2 NA NA NA NA rs55703803 0.03 0.03 0.019 0.0173722 0.0586 NA 0.0187 0.003 0.0112 0.06 NA 0.01 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79493 NA NA NA NA NA 0.072 NA 3.9414 1258 12 124856660 124856660 T A exonic NCOR2 NA synonymous SNV NCOR2:NM_001077261:exon21:c.A2661T:p.T887T,NCOR2:NM_001206654:exon21:c.A2661T:p.T887T,NCOR2:NM_006312:exon22:c.A2715T:p.T905T exonic ENSG00000196498 NA synonymous SNV ENSG00000196498:ENST00000397355:exon20:c.A2664T:p.T888T,ENSG00000196498:ENST00000404121:exon20:c.A1374T:p.T458T,ENSG00000196498:ENST00000404621:exon20:c.A2661T:p.T887T,ENSG00000196498:ENST00000405201:exon20:c.A2715T:p.T905T,ENSG00000196498:ENST00000429285:exon20:c.A2661T:p.T887T,ENSG00000196498:ENST00000356219:exon21:c.A2715T:p.T905T,ENSG00000196498:ENST00000458234:exon22:c.A2715T:p.T905T NA NA 12q24.31 NA NA NA NA rs3741513 0.39 0.39 0.339 0.385184 0.5805 0.1677 0.5893 0.2549 0.4397 0.56 0.15 0.59 0.24 0.5358 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560512 NA NA 0.608974 0.361058 NA 0.319 NA 3.9413926 1258 9 137623303 137623303 G A intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs76548907 0.03 0.03 0.038 0.0389377 0.0159 0.002 0.0187 0.0961 0.0378 0.01 0.0017 0.02 0.11 0.0248 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496882 NA NA 0.018023 0.078983 NA 0.014 NA 3.941277 1258 22 32546946 32546946 C T intronic C22orf42 NA NA NA intronic ENSG00000205856 NA NA NA NA NA 22q12.3 NA NA Name=5 NA rs2019949 0.39 0.39 0.41 0.440695 0.3549 0.1458 0.255 0.8737 0.3793 0.35 0.13 0.28 0.85 0.3556 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856193 NA NA 0.348721 0.790513 NA 0.413 NA 3.940779 1258 3 13544355 13544355 C T intronic HDAC11 NA NA NA intronic ENSG00000163517 NA NA NA NA NA 3p25.1 NA NA NA NA rs59204296 0.02 0.02 0.019 0.01877 0.0219 NA 0.0101 0.0469 0.0031 0.02 NA 0.02 0.06 0.0169 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236943 NA NA 0.020581 0.034271 NA 0.029 NA 3.940619 1258 12 2077098 2077098 C A intronic DCP1B NA NA NA intronic ENSG00000151065 NA NA NA NA NA 12p13.33 NA NA NA NA rs77559005 0.01 0.01 0.005 0.00698882 0.0258 NA 0.0058 0.0008 0.0041 0.02 NA 0.01 0.002 0.0153 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.904436 2.904436 NA 0.018286 0.002497 NA NA NA 3.940614 1258 1 118629738 118629738 G A intronic SPAG17 NA NA NA intronic ENSG00000155761 NA NA NA NA NA 1p12 NA NA NA NA rs12142679 0.1 0.1 0.093 0.120807 0.0596 0.2847 0.0447 0.034 0.1861 0.06 0.24 0.04 0.03 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210073 NA NA NA NA NA 0.029 NA 3.9404 1258 2 207451965 207451965 C A intronic ADAM23 NA NA NA intronic ENSG00000114948 NA NA NA NA NA 2q33.3 NA NA NA NA rs76058025 0.03 0.03 0.026 0.0327476 0.0596 0.002 0.0403 0.0061 0.0675 0.06 0.0017 0.05 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190377 NA NA NA NA NA 0.029 NA 3.9404 1258 6 29798083 29798083 C T intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs114038308 0.06 0.06 0.038 0.0876597 0.0596 0.1954 0.0375 0.0008 0.1585 0.06 0.15 0.03 0.002 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824965 NA NA NA NA NA 0.094 NA 3.9404 1258 6 29896272 29896272 G A intergenic HCG4B,HLA-A dist=2844;dist=13975 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259851 0.05 0.05 0.056 0.0607029 0.0596 0.0675 0.0389 0.0613 0.0695 0.05 0.06 0.04 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601213 NA NA NA NA NA 0.014 NA 3.9404 1258 6 152615042 152615042 G T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs73007780 0.05 0.05 0.039 0.0473243 0.0596 0.0724 0.0634 0.0083 0.0501 0.05 0.07 0.06 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487322 NA NA NA NA ID=COSN167910;OCCURENCE=2(large_intestine) 0.087 NA 3.9404 1258 6 160224203 160224203 A G intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA NA NA 6q25.3 NA NA NA NA rs56130537 0.03 0.03 0.024 0.0197684 0.0596 NA 0.0274 0.0076 0.0102 0.06 NA 0.04 0.02 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266376 NA NA NA NA NA 0.014 NA 3.9404 1258 8 51442650 51442650 A T intronic SNTG1 NA NA NA intronic ENSG00000147481 NA NA NA NA NA 8q11.21 NA NA NA NA rs73585148 0.12 0.12 0.143 0.14996 0.0596 0.0317 0.0461 0.3956 0.1063 0.06 0.03 0.06 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053104 NA NA NA NA NA 0.138 NA 3.9404 1258 8 95868932 95868932 C G intronic INTS8 NA NA NA intronic ENSG00000164941 NA NA NA NA NA 8q22.1 NA NA NA NA rs2467678 0.05 0.05 0.045 0.0511182 0.0596 0.1101 0.0173 0.0008 0.0736 0.06 0.13 0.01 0.002 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.31792 2.31792 NA NA NA NA 0.029 NA 3.9404 1258 14 20849940 20849940 G A intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs12436041 0.03 0.03 0.028 0.0319489 0.0596 NA 0.0317 0.003 0.0757 0.07 NA 0.03 NA NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043275 NA NA NA NA NA 0.014 NA 3.9404 1258 14 105695364 105695364 C T intronic BRF1 NA NA NA intronic ENSG00000185024 NA NA NA NA NA 14q32.33 NA NA NA NA rs77453682 0.03 0.03 0.027 0.0191693 0.0596 0.002 0.0331 0.003 0.0072 0.06 0.0035 0.02 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842793 NA NA NA NA NA 0.014 NA 3.9404 1258 17 26667226 26667226 C T intronic TNFAIP1 NA NA NA intronic ENSG00000109079 NA NA NA NA NA 17q11.2 NA NA NA NA rs2234116 0.03 0.03 0.022 0.0199681 0.0596 NA 0.0346 0.0023 0.0133 0.06 NA 0.04 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547048 NA NA NA NA NA 0.007 NA 3.9404 1258 12 21614897 21614897 C T intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs148210261 0.01 0.01 0.008 0.0061901 0.0258 NA 0.0029 0.0023 NA 0.03 NA NA 0.01 0.0161 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04215 NA NA 0.018032 0.003404 NA 0.007 NA 3.940068 1258 7 86820398 86820398 C G intronic DMTF1 NA NA NA intronic ENSG00000135164 NA NA NA NA NA 7q21.12 NA NA NA NA rs73208503 0.04 0.04 0.045 0.0347444 0.0268 0.0655 0.0115 0.0492 0.0082 0.03 0.06 0.01 0.05 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117686 NA NA 0.033627 0.049133 NA 0.123 NA 3.939573 1258 1 118550594 118550594 C A intronic SPAG17 NA NA NA intronic ENSG00000155761 NA NA NA NA NA 1p12 NA NA NA NA rs10923465 0.1 0.1 0.097 0.11242 0.0606 0.3085 0.0288 0.0008 0.1738 0.06 0.29 0.03 0.002 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129883 NA NA NA NA NA 0.029 NA 3.9394 1258 5 147503318 147503318 A G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs58409150 0.11 0.11 0.096 0.125599 0.0606 0.246 0.0461 0.0719 0.1973 0.06 0.25 0.06 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149533 NA NA NA NA NA 0.087 NA 3.9394 1258 11 6079028 6079028 C T intergenic OR56A1,OR56B4 dist=30057;dist=49981 NA NA ncRNA_exonic ENSG00000262980 NA NA NA NA NA 11p15.4 NA NA NA NA rs61735897 0.05 0.05 0.048 0.0461262 0.0606 0.0109 0.0187 0.0688 0.0562 0.07 0.01 0.03 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.977288 NA 0.13 NA NA NA 0.051 NA 3.9394 1258 12 124355944 124355944 C T intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs117975072 0.03 0.03 0.021 0.0211661 0.0606 0.001 0.0346 0.0008 0.0194 0.06 NA 0.04 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774995 NA NA NA NA NA 0.022 NA 3.9394 1258 14 56120178 56120178 T C intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs3736876 0.04 0.04 0.028 0.0397364 0.0606 0.0129 0.0692 0.0023 0.0757 0.06 0.01 0.07 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213615 NA NA NA NA NA 0.007 NA 3.9394 1258 16 69303943 69303943 G A intronic SNTB2 NA NA NA intronic ENSG00000168807 NA NA NA NA NA 16q22.1 NA NA NA NA rs17624424 0.03 0.03 0.027 0.0249601 0.0606 0.0198 0.0288 0.003 0.0204 0.06 0.02 0.03 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131381 NA NA NA NA NA 0.022 NA 3.9394 1258 21 43287616 43287616 G A intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs4919977 0.04 0.04 0.027 0.0467252 0.0606 0.005 0.0504 0.0083 0.1247 0.06 0.0017 0.06 0.01 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467658 NA NA NA NA NA 0.065 NA 3.9394 1258 9 72520823 72520823 T C intronic C9orf135 NA NA NA intronic ENSG00000204711 NA NA NA NA NA 9q21.12 NA NA NA NA rs56235401 0.01 0.01 0.012 0.014377 0.0229 NA 0.0187 0.0023 0.0337 0.02 NA 0.01 0.002 0.0166 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563086 NA NA 0.021207 0.004106 NA 0.08 NA 3.939293 1258 1 89580024 89580024 G A intronic GBP2 NA NA NA intronic ENSG00000162645 NA NA NA NA NA 1p22.2 NA NA NA NA rs116671729 0.01 0.01 0.011 0.0071885 0.0209 NA 0.0202 NA 0.001 0.02 NA 0.03 NA 0.0176 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539801 NA NA 0.022235 0.004539 NA 0.029 NA 3.939265 1258 13 19999927 19999927 T G intronic TPTE2 NA NA NA exonic ENSG00000132958 NA nonsynonymous SNV ENSG00000132958:ENST00000462409:exon14:c.A956C:p.Q319P NA NA 13q12.11 NA NA NA NA rs4544103 0.54 0.54 0.371 0.519369 0.7087 0.6746 0.5893 0.1309 0.6401 0.66 0.67 0.53 0.18 0.5188 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037018 NA NA NA NA NA 0.065 NA 3.9391667 1258 18 21441717 21441717 C T exonic LAMA3 NA synonymous SNV LAMA3:NM_001127717:exon35:c.C4530T:p.P1510P,LAMA3:NM_198129:exon35:c.C4530T:p.P1510P exonic ENSG00000053747 NA synonymous SNV ENSG00000053747:ENST00000313654:exon35:c.C4530T:p.P1510P,ENSG00000053747:ENST00000399516:exon35:c.C4530T:p.P1510P NA NA 18q11.2 NA NA NA NA rs12965685 0.38 0.38 0.37 0.340655 0.6113 0.1746 0.4121 0.1899 0.3865 0.61 0.17 0.46 0.2 0.4995 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155578 NA NA 0.617316 0.266601 NA 0.406 NA 3.9385506 1258 1 158986561 158986561 C T intronic IFI16 NA NA NA intronic ENSG00000163565 NA NA NA NA NA 1q23.1 NA NA NA NA rs16841500 0.03 0.03 0.024 0.0239617 0.0616 NA 0.0562 0.0038 0.0143 0.06 NA 0.07 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093679 NA NA NA NA NA 0.13 NA 3.9384 1258 2 241420626 241420626 G A intronic ANKMY1 NA NA NA intronic ENSG00000144504 NA NA NA NA NA 2q37.3 NA NA NA NA rs112401294 0.03 0.03 0.022 0.0353435 0.0616 0.0109 0.0216 0.0015 0.089 0.05 0.01 0.03 0.0041 NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868964 NA NA NA NA NA 0.101 NA 3.9384 1258 11 17415143 17415143 A C intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA NA NA 11p15.1 NA NA NA NA rs17846719 0.15 0.15 0.159 0.179513 0.0616 0.0079 0.1931 0.4743 0.0695 0.06 0.01 0.16 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458554 NA NA NA NA NA 0.29 NA 3.9384 1258 11 20075573 20075573 A T intronic NAV2 NA NA NA intronic ENSG00000166833 NA NA NA NA NA 11p15.1 NA NA NA NA rs35849418 0.03 0.03 0.023 0.0215655 0.0616 NA 0.0403 0.0015 0.0164 0.05 NA 0.05 0.0041 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902028 NA NA NA NA NA 0.072 NA 3.9384 1258 13 99484109 99484109 G C intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA NA NA 13q32.3 NA NA NA NA rs17709432 0.04 0.04 0.025 0.0245607 0.0616 NA 0.062 0.003 0.0143 0.06 NA 0.08 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.37737 2.37737 NA NA NA NA 0.029 NA 3.9384 1258 15 64508647 64508647 C A intronic CSNK1G1 NA NA NA intronic ENSG00000169118,ENSG00000259316 NA NA NA NA NA 15q22.31 NA NA NA NA rs72756938 0.02 0.02 0.022 0.0321486 0.0616 0.001 0.0173 0.003 0.0838 0.06 NA 0.02 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.026096 2.026096 NA NA NA NA 0.065 NA 3.9384 1258 15 74181301 74181301 C A intronic TBC1D21 NA NA NA intronic ENSG00000167139 NA NA NA NA NA 15q24.1 NA NA NA NA rs74461319 0.03 0.03 0.017 0.0183706 0.0616 NA 0.0216 0.0038 0.0102 0.06 NA 0.03 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738855 NA NA NA NA NA 0.014 NA 3.9384 1258 22 46785131 46785131 C T intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA NA NA rs6007898 0.04 0.04 0.038 0.043131 0.0616 0.001 0.0346 0.0779 0.0266 0.06 0.0017 0.04 0.07 NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599089 NA NA NA NA NA 0.051 NA 3.9384 1258 3 148880183 148880183 C A intronic HPS3 NA NA NA intronic ENSG00000163755 NA NA NA NA NA 3q24 NA NA NA NA rs34470330 0.01 0.01 0.006 0.0169728 0.0258 0.002 0.0187 0.0008 0.044 0.03 0.0017 0.02 NA 0.0359 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.263533 1.263533 NA NA NA NA 0.014 NA 3.9383 1258 4 1705447 1705447 C T intronic SLBP NA NA NA intronic ENSG00000163950 NA NA NA NA NA 4p16.3 NA NA NA NA rs2854911 0.01 0.01 0.01 0.0223642 0.0189 0.0099 0.013 0.0015 0.0736 0.02 0.01 0.02 NA 0.0238 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140508 NA NA 0.01907 0.004312 NA 0.007 NA 3.93823 1258 9 74862290 74862290 G A intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA NA NA NA rs145950864 0.01 0.01 0.008 0.00958466 0.0278 NA 0.0259 NA 0.002 0.02 NA 0.04 NA 0.0126 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03832 NA NA 0.021405 0.005223 NA NA NA 3.938195 1258 9 78942956 78942956 A G exonic PCSK5 NA synonymous SNV PCSK5:NM_001190482:exon32:c.A4290G:p.S1430S exonic ENSG00000099139 NA synonymous SNV ENSG00000099139:ENST00000424854:exon26:c.A3390G:p.S1130S,ENSG00000099139:ENST00000545128:exon32:c.A4290G:p.S1430S NA NA 9q21.13 NA NA NA NA rs2259969 0.5 0.5 0.529 0.51238 0.6024 0.2123 0.451 0.7156 0.498 0.6 0.19 0.48 0.71 0.5363 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042147 NA NA 0.589905 0.671804 NA 0.507 NA 3.9380616 1258 16 66946073 66946073 G A intronic CDH16 NA NA NA intronic ENSG00000166589 NA NA NA NA NA 16q22.1 NA NA NA NA rs75675064 0.01 0.01 0.007 0.00579073 0.0219 NA 0.0043 NA 0.0041 0.02 NA 0.01 NA 0.0147 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.389961 NA NA 0.025349 0.004318 NA NA NA 3.938051 1258 15 40300443 40300443 T G intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA NA 15q15.1 NA NA Name=29 NA rs2279579 0.29 0.29 0.287 0.277955 0.3579 0.247 0.2911 0.1914 0.3354 0.34 0.25 0.36 0.21 0.3366 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916743 NA NA 0.367791 0.243863 NA 0.399 NA 3.937709 1258 5 169463421 169463421 C G intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA NA NA rs6899181 0.09 0.09 0.104 0.115415 0.0626 0.0734 0.0548 0.1399 0.2229 0.06 0.08 0.04 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152503 NA NA NA NA NA 0.13 NA 3.9374 1258 9 33471937 33471937 C T intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA NA NA NA rs2992820 0.09 0.09 0.088 0.0916534 0.0626 0.0258 0.0591 0.2413 0.0102 0.05 0.04 0.07 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228405 NA NA NA NA NA 0.152 NA 3.9374 1258 9 130980404 130980404 G A intronic DNM1 NA NA NA intronic ENSG00000106976 NA NA NA NA NA 9q34.11 NA NA NA NA rs73672447 0.13 0.13 0.111 0.123003 0.0626 0.3075 0.0504 0.0386 0.1605 0.06 0.34 0.06 0.06 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712881 NA NA NA NA NA 0.123 NA 3.9374 1258 10 23688486 23688486 T C intergenic C10orf67,OTUD1 dist=54714;dist=39712 NA NA ncRNA_exonic ENSG00000238515 NA NA NA NA NA 10p12.2 NA NA NA NA rs10458696 0.19 0.19 0.171 0.187899 0.0626 0.5188 0.0908 0.093 0.1728 0.07 0.49 0.09 0.1 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771527 NA NA NA NA NA 0.159 NA 3.9374 1258 14 56106784 56106784 G C intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs9323289 0.05 0.05 0.045 0.0621006 0.0626 0.0159 0.0749 0.0514 0.1145 0.07 0.01 0.07 0.06 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.239754 NA NA NA NA NA 0.022 NA 3.9374 1258 16 84485395 84485395 C T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs116851095 0.03 0.03 0.02 0.0249601 0.0626 0.0069 0.0346 0.0068 0.0225 0.06 0.0017 0.05 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933725 NA NA NA NA NA 0.014 NA 3.9374 1258 19 55174957 55174957 G A intronic LILRB4 NA NA NA intronic ENSG00000186818 NA NA NA NA NA 19q13.42 NA NA NA NA rs117878945 0.02 0.02 0.007 0.0061901 0.0229 NA 0.0101 NA 0.001 0.04 0.02 0.02 0.01 0.0183 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443574 NA NA 0.021628 0.005674 NA 0.058 NA 3.937172 1258 12 124179739 124179739 A G intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA NA NA rs12831081 0.27 0.27 0.265 0.272165 0.3588 0.0565 0.2291 0.3971 0.2669 0.36 0.05 0.25 0.39 0.326 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144734 NA NA 0.378072 0.41403 NA 0.217 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114226.2;CLNDSDB=.;CLNDSDBID=. 3.937128 1258 4 68934252 68934252 A C ncRNA_intronic LOC550113 NA NA NA ncRNA_intronic ENSG00000248049 NA NA NA NA NA 4q13.2 NA NA NA NA rs1079449 0.67 0.67 0.651 0.650759 0.7296 0.8661 0.5461 0.4221 0.7311 0.73 0.87 0.6 0.4 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916367 NA NA NA NA NA 0.688 NA 3.9370666 1258 7 17861093 17861093 A C intronic SNX13 NA NA NA intronic ENSG00000071189 NA NA NA NA NA 7p21.1 NA NA NA NA rs144264663 0.01 0.01 0.006 0.00798722 0.0239 NA 0.0043 0.0008 0.0123 0.03 NA 0.01 0.002 0.0177 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.856718 1.856718 NA 0.02159 0.00547 NA NA NA 3.93681 1258 19 16229122 16229122 C T intronic RAB8A NA NA NA intronic ENSG00000167461 NA NA NA NA NA 19p13.12 NA NA NA NA rs2233146 0.01 0.01 0.01 0.00798722 0.0209 NA 0.0231 0.0023 NA 0.02 NA 0.03 0.002 0.0157 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331006 NA NA 0.02686 0.006355 NA 0.007 NA 3.93654 1258 1 55518160 55518160 C A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs11806638 0.12 0.12 0.121 0.134185 0.0636 0.0268 0.0677 0.3563 0.0644 0.06 0.03 0.06 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021368 NA NA NA NA NA 0.181 NA 3.9364 1258 1 161090077 161090077 C G intronic NIT1 NA NA NA intronic ENSG00000158793 NA NA NA NA NA 1q23.3 NA NA NA NA rs76729621 0.03 0.03 0.023 0.0263578 0.0636 NA 0.0533 0.0008 0.0307 0.06 NA 0.06 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.071467 NA NA NA NA NA 0.007 NA 3.9364 1258 1 236393637 236393637 C T intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs114781164 0.03 0.03 0.023 0.0173722 0.0636 NA 0.0202 0.0023 0.0061 0.06 NA 0.02 NA NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822252 NA NA NA NA NA 0.014 NA 3.9364 1258 6 29895334 29895334 T C intergenic HCG4B,HLA-A dist=1906;dist=14913 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs62390378 0.1 0.1 0.051 0.119808 0.0636 0.3185 0.0476 0.0023 0.183 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017757 NA NA NA NA NA 0.043 NA 3.9364 1258 6 29895772 29895772 C G intergenic HCG4B,HLA-A dist=2344;dist=14475 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs138034172 0.1 0.1 0.016 0.120008 0.0636 0.3194 0.0476 0.003 0.182 0.06 0.27 0.04 0.002 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406506 NA NA NA NA NA 0.043 NA 3.9364 1258 6 29895788 29895788 G C intergenic HCG4B,HLA-A dist=2360;dist=14459 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs144933869 0.09 0.09 0.06 0.120208 0.0636 0.3194 0.0476 0.003 0.183 0.05 0.26 0.04 0.002 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.139881 NA NA NA NA NA 0.043 NA 3.9364 1258 6 29896125 29896125 G A intergenic HCG4B,HLA-A dist=2697;dist=14122 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs56263834 0.1 0.1 0.06 0.120607 0.0636 0.3194 0.0476 0.0023 0.1861 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538223 NA NA NA NA NA 0.094 NA 3.9364 1258 6 29896128 29896128 G T intergenic HCG4B,HLA-A dist=2700;dist=14119 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs55803658 0.1 0.1 0.053 0.120407 0.0636 0.3185 0.0476 0.0023 0.1861 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550203 NA NA NA NA NA 0.094 NA 3.9364 1258 6 29896257 29896257 C T intergenic HCG4B,HLA-A dist=2829;dist=13990 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs55795233 0.1 0.1 0.057 0.119609 0.0636 0.3165 0.0476 0.0023 0.184 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011159 NA NA NA NA NA 0.094 NA 3.9364 1258 6 29896291 29896291 T C intergenic HCG4B,HLA-A dist=2863;dist=13956 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs56285764 0.1 0.1 0.06 0.119609 0.0636 0.3165 0.0476 0.0023 0.184 0.06 0.28 0.05 0.002 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295243 NA NA NA NA NA 0.087 NA 3.9364 1258 9 33467614 33467614 T C intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA NA NA NA rs501213 0.09 0.09 0.096 0.0930511 0.0636 0.0218 0.0591 0.2489 0.0102 0.05 0.03 0.07 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113432 NA NA NA NA NA 0.152 NA 3.9364 1258 16 23366528 23366528 C G intronic SCNN1B NA NA NA intronic ENSG00000168447 NA NA NA NA NA 16p12.2 NA NA NA NA rs2301601 0.1 0.1 0.106 0.105631 0.0636 0.13 0.0836 0.1498 0.0798 0.06 0.13 0.08 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32475 NA NA NA NA NA 0.094 NA 3.9364 1258 12 113605769 113605769 C T intronic DDX54 NA NA NA intronic ENSG00000123064 NA NA NA NA NA 12q24.13 NA NA NA NA rs117291153 0.01 0.01 0.007 0.0103834 0.0209 NA 0.0144 0.0008 0.0204 0.01 NA 0.01 NA 0.0196 0.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94376 NA NA 0.023104 0.005708 NA 0.014 NA 3.936396 1258 1 229596565 229596565 C T intronic NUP133 NA NA NA intronic ENSG00000069248 NA NA NA NA NA 1q42.13 NA NA NA NA rs74971830 0.01 0.01 0.005 0.00479233 0.0159 NA 0.0058 NA 0.0041 0.02 NA 0.01 NA 0.0191 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.602872 NA NA 0.028628 0.005563 NA NA NA 3.936372 1258 15 52545702 52545702 C T intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA NA NA rs74455958 0.09 0.09 0.076 0.0966454 0.0099 0.1379 0.1225 0.1558 0.045 0.01 0.15 0.08 0.16 0.0439 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265374 NA NA 0.009843 0.130028 NA 0.101 NA 3.936357 1258 18 28712686 28712686 A G intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs1992143 0.18 0.18 0.166 0.151158 0.1243 0.377 0.2349 0.0076 0.0808 0.11 0.41 0.2 0.02 0.152 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190813 NA NA 0.12081 0.024069 ID=COSN165627;OCCURENCE=1(NS) 0.254 NA 3.9362233 1258 5 13870836 13870836 G A intronic DNAH5 NA NA NA ncRNA_intronic ENSG00000251423 NA NA NA NA NA 5p15.2 NA NA NA NA rs35621834 0.1 0.1 0.092 0.076877 0.1501 0.1042 0.0677 0.0356 0.0358 0.15 0.09 0.07 0.05 0.1129 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.313738 1.313738 NA 0.134163 0.050159 NA 0.065 NA 3.9361703 1258 6 32805262 32805262 A G intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA NA NA NA rs56145201 0.04 0.04 0.032 0.0405351 0.0358 0.0982 0.0115 0.0045 0.0552 0.04 0.09 0.02 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146538 NA NA 0.028155 0.009143 NA 0.065 NA 3.936045 1258 18 5956483 5956483 G C intronic L3MBTL4 NA NA NA ncRNA_intronic ENSG00000265487 NA NA NA NA NA 18p11.31 NA NA NA NA rs3737357 0.38 0.38 0.35 0.384784 0.3976 0.4742 0.2723 0.2927 0.4836 0.41 0.47 0.28 0.3 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910812 NA NA NA NA NA 0.362 NA 3.9357333 1258 10 102762256 102762256 C T UTR5 LZTS2 NM_032429:c.-40C>T NA NA UTR5 ENSG00000107816 ENST00000426584:c.-40C>T,ENST00000370223:c.-40C>T,ENST00000429732:c.-40C>T,ENST00000481129:c.-40C>T,ENST00000370220:c.-40C>T,ENST00000454422:c.-40C>T NA NA Score=415;Name=lod=65 NA 10q24.31 NA NA NA NA rs752974 0.29 0.29 0.265 0.27496 0.4891 0.0903 0.4928 0.084 0.3487 0.49 0.12 0.43 0.08 0.43 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530826 NA NA 0.478613 0.138249 NA 0.362 NA 3.9356204 1258 2 208134114 208134114 A T intergenic KLF7,CREB1 dist=102144;dist=260502 NA NA ncRNA_exonic ENSG00000221628 NA NA NA NA NA 2q33.3 NA NA NA NA rs116237969 0.02 0.02 0.018 0.0275559 0.0159 NA 0.0288 0.0605 0.0225 0.02 NA 0.04 0.06 0.0287 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066381 NA NA 0.019994 0.061224 NA 0.022 NA 3.935406 1258 1 118534976 118534976 T C intronic SPAG17 NA NA NA intronic ENSG00000155761 NA NA NA NA NA 1p12 NA NA NA NA rs12125318 0.12 0.12 0.116 0.136781 0.0646 0.3264 0.0504 0.053 0.1902 0.06 0.3 0.05 0.06 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.396333 1.396333 NA NA NA NA 0.065 NA 3.9354 1258 6 29895782 29895782 T C intergenic HCG4B,HLA-A dist=2354;dist=14465 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs142655476 0.09 0.09 0.05 0.120407 0.0646 0.3194 0.0476 0.003 0.183 0.05 0.26 0.04 0.002 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258697 NA NA NA NA NA 0.043 NA 3.9354 1258 6 29895798 29895798 G A intergenic HCG4B,HLA-A dist=2370;dist=14449 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs138703942 0.09 0.09 0.007 0.120607 0.0646 0.3194 0.0476 0.003 0.184 0.05 0.26 0.04 0.002 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930263 NA NA NA NA NA 0.029 NA 3.9354 1258 7 87839528 87839528 A G intronic SRI NA NA NA intronic ENSG00000075142 NA NA NA NA NA 7q21.12 NA NA NA NA rs4728737 0.05 0.05 0.056 0.0623003 0.0646 0.0744 0.072 0.0121 0.1084 0.07 0.07 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762387 NA NA NA NA NA 0.094 NA 3.9354 1258 9 29826486 29826486 G A intergenic LINGO2,LOC401497 dist=613488;dist=562447 NA NA ncRNA_exonic ENSG00000230097 NA NA NA NA NA 9p21.1 NA NA NA NA rs79694178 0.03 0.03 0.02 0.0215655 0.0646 NA 0.0231 0.003 0.0235 0.06 NA 0.03 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383748 NA NA NA NA NA 0.014 NA 3.9354 1258 9 116130725 116130725 T C intronic BSPRY NA NA NA intronic ENSG00000119411 NA NA NA NA NA 9q32 NA NA NA NA rs2296074 0.05 0.05 0.05 0.0605032 0.0646 0.0734 0.0476 0.0045 0.1278 0.06 0.08 0.05 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.076866 2.076866 NA NA NA NA 0.036 NA 3.9354 1258 14 68023869 68023869 G A intronic PLEKHH1 NA NA NA intronic ENSG00000054690 NA NA NA NA NA 14q24.1 NA NA NA NA rs10873206 0.05 0.05 0.06 0.0473243 0.0646 NA 0.0317 0.0847 0.0389 0.06 NA 0.04 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.737301 3.737301 NA NA NA NA 0.029 NA 3.9354 1258 17 42232405 42232405 G A intronic C17orf53 NA NA NA intronic ENSG00000125319 NA NA NA NA NA 17q21.31 NA NA NA NA rs62078933 0.03 0.03 0.021 0.0179712 0.0646 NA 0.0187 0.0038 0.0072 0.06 NA 0.02 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172048 NA NA NA NA NA NA NA 3.9354 1258 18 29450527 29450527 G A intronic TRAPPC8 NA NA NA intronic ENSG00000153339 NA NA NA NA NA 18q12.1 NA NA NA NA rs77278243 0.05 0.05 0.052 0.0511182 0.0646 0.0109 0.0432 0.0666 0.0634 0.07 0.01 0.03 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887269 NA NA NA NA NA 0.051 NA 3.9354 1258 2 182763529 182763529 A T intronic SSFA2 NA NA NA intronic ENSG00000138434 NA NA NA NA NA 2q31.3 NA NA NA NA rs2059702 0.13 0.13 0.148 0.161342 0.0348 0.0843 0.0634 0.4032 0.1135 0.03 0.11 0.06 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.728005 1.728005 NA 0.029893 0.361994 NA 0.167 NA 3.935307 1258 21 35260481 35260481 T C exonic ITSN1 NA synonymous SNV ITSN1:NM_003024:exon40:c.T5043C:p.R1681R exonic ENSG00000205726 NA synonymous SNV ENSG00000205726:ENST00000437442:exon37:c.T4860C:p.R1620R,ENSG00000205726:ENST00000399367:exon39:c.T5028C:p.R1676R,ENSG00000205726:ENST00000381285:exon40:c.T5043C:p.R1681R,ENSG00000205726:ENST00000381318:exon40:c.T5043C:p.R1681R NA NA 21q22.11 NA NA NA NA rs2073370 0.56 0.56 0.547 0.575679 0.5825 0.7054 0.487 0.4592 0.6554 0.56 0.69 0.51 0.43 0.5767 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128078 NA NA 0.572209 0.509986 NA 0.551 NA 3.9352576 1258 6 29857965 29857965 G A ncRNA_intronic HLA-H NA NA NA ncRNA_intronic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259269 0.69 0.69 0.692 0.694688 0.7316 0.5923 0.7723 0.7239 0.6677 0.71 0.56 0.71 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143949 NA NA NA NA NA 0.638 NA 3.9350666 1259 5 37008690 37008690 T C intronic NIPBL NA NA NA intronic ENSG00000164190 NA NA NA NA NA 5p13.2 NA NA NA NA rs147490589 0.01 0.01 0.007 0.00798722 0.0249 NA 0.0058 0.0008 0.0102 0.02 NA 0.01 NA 0.0161 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643459 NA NA 0.024153 0.004053 NA NA NA 3.934847 1259 13 36402325 36402325 T A ncRNA_intronic MIR548F5 NA NA NA intronic ENSG00000133083 NA NA NA NA NA 13q13.3 NA NA NA NA rs2296644 0.25 0.25 0.237 0.281949 0.1988 0.4673 0.2392 0.1573 0.3753 0.19 0.44 0.23 0.15 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76508 NA NA 0.199811 0.169075 NA 0.217 NA 3.9347223 1259 12 29608361 29608361 T A ncRNA_intronic LOC101055625 NA NA NA intronic ENSG00000187950,ENSG00000257599 NA NA NA NA NA 12p11.22 NA NA NA NA rs11050237 0.11 0.11 0.107 0.107029 0.1352 0.0724 0.0836 0.1377 0.089 0.14 0.08 0.07 0.13 0.1246 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340799 NA NA 0.138842 0.136957 NA 0.13 NA 3.9346913 1259 14 76548739 76548739 G A intronic IFT43 NA NA NA intronic ENSG00000119650 NA NA NA NA NA 14q24.3 NA NA NA NA rs116881452 0.03 0.03 0.03 0.0327476 0.0199 0.0794 0.0086 0.0015 0.0573 0.02 0.08 0.01 NA 0.0268 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572813 NA NA 0.018721 0.003858 NA 0.022 NA 3.934579 1259 1 151107496 151107496 G A intronic SEMA6C NA NA NA intronic ENSG00000143434 NA NA NA NA NA 1q21.3 NA NA NA NA rs12090246 0.06 0.06 0.062 0.0549121 0.0656 NA 0.0346 0.1339 0.0082 0.07 NA 0.03 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.725746 2.725746 NA NA NA NA 0.058 NA 3.9344 1259 4 106766496 106766496 A G intronic GSTCD NA NA NA intronic ENSG00000138780,ENSG00000138785 NA NA NA NA NA 4q24 NA NA NA NA rs11726124 0.04 0.04 0.044 0.0333466 0.0656 NA 0.0591 0.0303 0.0204 0.07 NA 0.07 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016783 NA NA NA NA NA 0.036 NA 3.9344 1259 4 187557120 187557120 T C intronic FAT1 NA NA NA intronic ENSG00000083857 NA NA NA NA NA 4q35.2 NA NA NA NA rs28372109 0.05 0.05 0.053 0.0401358 0.0656 0.0268 0.0303 0.0371 0.0389 0.07 0.03 0.04 0.03 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362565 NA NA NA NA NA 0.022 NA 3.9344 1259 16 67036913 67036913 G C intronic CES4A NA NA NA intronic ENSG00000172824 NA NA NA NA NA 16q22.1 NA NA NA NA rs117385661 0.03 0.03 0.031 0.0279553 0.0656 NA 0.0115 0.0038 0.0624 0.08 NA 0.01 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251431 NA NA NA NA NA 0.029 NA 3.9344 1259 19 52130337 52130337 T C intronic SIGLEC5 NA NA NA intronic ENSG00000105501,ENSG00000268500 NA NA NA NA NA 19q13.41 NA NA NA NA rs8105105 0.15 0.15 0.154 0.158347 0.0656 0.2004 0.0576 0.2632 0.1401 0.06 0.22 0.07 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151443 NA NA NA NA NA 0.152 NA 3.9344 1259 22 33670679 33670679 G A intronic LARGE NA NA NA intronic ENSG00000133424 NA NA NA NA NA 22q12.3 NA NA NA NA rs41282597 0.03 0.03 0.03 0.0209665 0.0656 0.001 0.0403 0.0038 0.0051 0.06 NA 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778758 NA NA NA NA NA 0.022 NA 3.9344 1259 3 160135488 160135488 T G intronic SMC4 NA NA NA intronic ENSG00000113810,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs9813697 0.04 0.04 0.045 0.0467252 0.0189 NA 0.0274 0.1369 0.0153 0.02 NA 0.02 0.15 0.0262 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321943 1.321943 NA 0.021061 0.120799 NA 0.036 NA 3.933839 1259 7 29760201 29760201 T C intergenic DPY19L2P3,WIPF3 dist=32342;dist=85969 NA NA ncRNA_intronic ENSG00000227855 NA NA NA NA NA 7p14.3 NA NA NA NA rs113304427 0.03 0.03 0.023 0.0231629 0.0666 NA 0.0476 0.0008 0.0153 0.06 NA 0.05 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067741 NA NA NA NA NA 0.029 NA 3.9334 1259 1 20997072 20997072 A G intronic KIF17 NA NA NA intronic ENSG00000117245 NA NA NA NA NA 1p36.12 NA NA NA NA rs41265075 0.03 0.03 0.014 0.0213658 0.0666 NA 0.0432 0.0023 0.0072 0.07 NA 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645631 NA NA NA NA NA 0.036 NA 3.9334 1259 7 47943869 47943869 G A intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs6956732 0.09 0.09 0.087 0.0894569 0.0666 0.1359 0.1124 0.0234 0.138 0.06 0.18 0.1 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155662 NA NA NA NA NA 0.029 NA 3.9334 1259 8 131130553 131130553 T C intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA NA NA 8q24.21 NA NA NA NA rs118138898 0.03 0.03 0.031 0.0183706 0.0666 NA 0.0274 0.0023 0.0031 0.06 NA 0.04 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385272 NA NA NA NA NA 0.022 NA 3.9334 1259 11 62766203 62766203 C T intronic SLC22A8 NA NA NA intronic ENSG00000149452 NA NA NA NA NA 11q12.3 NA NA NA NA rs72933455 0.03 0.03 0.032 0.0221645 0.0666 0.0079 0.0274 0.0023 0.0143 0.06 0.01 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167246 NA NA NA NA NA 0.08 NA 3.9334 1259 12 665655 665655 G A intronic B4GALNT3 NA NA NA intronic ENSG00000139044 NA NA NA NA NA 12p13.33 NA NA NA NA rs2075027 0.15 0.15 0.164 0.15615 0.0666 0.4038 0.0634 0.0484 0.2045 0.07 0.39 0.07 0.05 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91567 NA NA NA NA NA 0.116 NA 3.9334 1259 15 26806393 26806393 T C intronic GABRB3 NA NA NA intronic ENSG00000166206 NA NA NA NA NA 15q12 NA NA NA NA rs3751583 0.06 0.06 0.045 0.0628994 0.0666 0.0327 0.1383 0.0113 0.1063 0.07 0.04 0.12 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00536 NA NA NA NA NA 0.022 NA 3.9334 1259 10 88946977 88946977 T A intronic FAM35A NA NA NA intronic ENSG00000122376 NA NA NA NA NA 10q23.2 NA NA NA NA rs7913563 0.05 0.05 0.044 0.052516 0.0159 NA 0.0274 0.1702 0.0031 0.01 NA 0.04 0.19 0.0299 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370247 NA NA 0.020828 0.152292 NA 0.007 NA 3.933372 1259 7 139725964 139725964 G A intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs118130826 0.01 0.01 0.008 0.0111821 0.0229 NA 0.0086 0.003 0.0235 0.02 NA 0.01 0.002 0.0197 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912474 NA NA 0.024302 0.004312 NA 0.014 NA 3.933098 1259 11 5719504 5719504 A G intronic TRIM22 NA NA NA intronic ENSG00000132256,ENSG00000132274 NA NA NA NA NA 11p15.4 NA NA NA NA rs74813137 0.01 0.01 0.004 0.0071885 0.0219 0.001 0.0115 0.003 0.001 0.02 NA 0.02 0.01 0.0167 0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194996 NA NA 0.028551 0.005032 NA NA NA 3.932849 1259 9 101065504 101065504 C T intronic GABBR2 NA NA NA intronic ENSG00000136928 NA NA NA NA NA 9q22.33 NA NA NA NA rs73490787 0.06 0.06 0.066 0.0577077 0.0169 NA 0.0259 0.1914 0.001 0.02 NA 0.02 0.23 0.0276 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429115 NA NA 0.022907 0.146618 NA 0.087 NA 3.932593 1259 5 96093011 96093011 C T intronic CAST NA NA NA intronic ENSG00000153113 NA NA NA NA NA 5q15 NA NA NA NA rs2290676 0.07 0.07 0.075 0.101038 0.0676 0.0238 0.0576 0.1785 0.1411 0.05 0.03 0.07 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326206 NA NA NA NA NA 0.101 NA 3.9324 1259 8 139706888 139706888 G A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs10109299 0.12 0.12 0.13 0.137979 0.0676 0.0238 0.0793 0.3533 0.0787 0.06 0.02 0.11 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343066 NA NA NA NA NA 0.254 NA 3.9324 1259 9 107484679 107484679 G C intergenic OR13D1,NIPSNAP3A dist=26936;dist=25290 NA NA ncRNA_exonic ENSG00000188712 NA NA NA NA NA 9q31.1 NA NA NA NA rs71511781 0.08 0.08 0.073 0.114617 0.0676 0.002 0.0576 0.2436 0.1452 0.06 0.0017 0.07 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276096 NA NA NA NA NA 0.101 NA 3.9324 1259 14 20844194 20844194 T C intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs45616833 0.04 0.04 0.048 0.0505192 0.0676 0.002 0.0346 0.0582 0.0838 0.07 NA 0.03 0.06 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477386 NA NA NA NA NA 0.029 NA 3.9324 1259 15 55912528 55912528 C T intronic PRTG NA NA NA intronic ENSG00000166450 NA NA NA NA NA 15q21.3 NA NA NA NA rs1438915 0.03 0.03 0.025 0.0225639 0.0676 NA 0.0288 0.0015 0.0235 0.07 NA 0.03 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692609 NA NA NA NA NA 0.058 NA 3.9324 1259 19 10267011 10267011 C A intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs4804490 0.19 0.19 0.176 0.204273 0.0676 0.3681 0.1844 0.171 0.2352 0.06 0.39 0.17 0.18 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349511 NA NA NA NA NA 0.181 NA 3.9324 1259 19 10267252 10267252 G T intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs10421746 0.21 0.21 0.193 0.222843 0.0676 0.3681 0.1859 0.2405 0.2352 0.06 0.39 0.17 0.27 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284711 NA NA NA NA NA 0.239 NA 3.9324 1259 19 10267266 10267266 C A intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs10423341 0.21 0.21 0.195 0.222644 0.0676 0.3681 0.1859 0.2398 0.2352 0.06 0.39 0.17 0.26 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679061 NA NA NA NA NA 0.239 NA 3.9324 1259 19 10283932 10283932 C T intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs2288350 0.19 0.19 0.158 0.199081 0.0676 0.369 0.1844 0.1505 0.2352 0.06 0.39 0.17 0.15 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127233 NA NA NA NA ID=COSN165720;OCCURENCE=1(breast) 0.21 NA 3.9324 1259 19 56477499 56477499 G A intronic NLRP8 NA NA NA intronic ENSG00000179709 NA NA NA NA NA 19q13.43 NA NA NA NA rs73934219 0.06 0.06 0.062 0.0593051 0.0676 0.001 0.0821 0.1225 0.0092 0.06 NA 0.1 0.11 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693839 NA NA NA NA NA 0.087 NA 3.9324 1259 3 51668102 51668102 C T intronic RAD54L2 NA NA NA intronic ENSG00000164080 NA NA NA NA NA 3p21.2 NA NA NA NA rs76085189 0.01 0.01 0.016 0.00978435 0.0358 NA 0.0086 0.0038 0.002 0.03 NA 0.02 0.0041 NA 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.221725 NA NA 0.031832 0.006782 NA NA NA 3.932368 1259 17 61995098 61995098 G A intronic GH1 NA NA NA intronic ENSG00000204414,ENSG00000259384 NA NA NA NA NA 17q23.3 NA NA NA NA rs41295245 0.01 0.01 NA 0.0103834 0.0219 NA 0.0144 0.0008 0.0194 0.02 NA 0.01 0.002 0.0224 0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038701 NA NA 0.023721 0.004312 NA 0.051 NA 3.931979 1259 19 50062280 50062280 C T intronic NOSIP NA NA NA intronic ENSG00000142546 NA NA NA NA NA 19q13.33 NA NA NA NA rs79151664 0.01 0.01 0.014 0.0163738 0.0229 NA 0.0115 0.0008 0.0511 0.03 NA 0.01 NA 0.0216 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349142 NA NA 0.023605 0.006128 NA 0.007 NA 3.931895 1259 2 98418876 98418876 C T intronic TMEM131 NA NA NA intronic ENSG00000075568 NA NA NA NA NA 2q11.2 NA NA NA NA rs17022568 0.02 0.02 0.02 0.0269569 0.0239 NA 0.0288 0.0681 0.001 0.02 NA 0.03 0.05 0.0209 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631276 NA NA 0.023315 0.047983 NA 0.014 NA 3.931885 1259 4 189061818 189061818 A G intronic TRIML1 NA NA NA intronic ENSG00000184108 NA NA NA NA NA 4q35.2 NA NA NA NA rs111987767 0.02 0.02 0.023 0.0251597 0.0179 NA 0.0101 0.0582 0.0245 0.02 NA 0.01 0.06 0.0256 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847628 NA NA 0.024767 0.046754 NA 0.022 NA 3.931733 1259 1 166926999 166926999 T C intronic ILDR2 NA NA NA intronic ENSG00000143195 NA NA NA NA NA 1q24.1 NA NA NA NA rs34175991 0.01 0.01 0.005 0.00599042 0.0219 NA 0.0115 NA NA 0.02 NA 0.01 NA 0.0193 0.027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.410333 2.410333 NA 0.027093 0.007717 NA 0.014 NA 3.931707 1259 3 132230110 132230110 C T intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs7651731 0.04 0.04 0.042 0.0505192 0.0209 NA 0.0216 0.1611 0.0041 0.02 NA 0.03 0.12 0.0277 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61737 NA NA 0.019767 0.133454 NA 0.065 NA 3.931633 1259 14 100792482 100792482 C A intronic SLC25A47 NA NA NA UTR5 ENSG00000140107 ENST00000557052:c.-2692C>A NA NA NA NA 14q32.2 NA Name=ERalpha_a Name=6 NA rs1951519 0.71 0.71 0.676 0.714257 0.7495 0.7569 0.8357 0.5174 0.8139 0.75 0.76 0.82 0.5 0.7544 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048437 NA NA 0.731163 0.540399 NA 0.594 NA 3.9316037 1259 8 82606782 82606782 A G exonic SLC10A5 NA synonymous SNV SLC10A5:NM_001010893:exon1:c.T426C:p.N142N exonic ENSG00000253598 NA synonymous SNV ENSG00000253598:ENST00000518568:exon1:c.T426C:p.N142N NA NA 8q21.13 NA NA NA NA rs2955006 0.41 0.41 0.366 0.441294 0.5934 0.129 0.6037 0.3359 0.6339 0.58 0.11 0.59 0.34 0.5452 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.630372 NA NA 0.596512 0.394689 NA 0.536 NA 3.9315546 1259 20 2559778 2559778 G C intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA Name=FOSL2 Name=3 NA rs6083735 0.67 0.67 0.643 0.695288 0.6958 0.5228 0.6888 0.798 0.7382 0.71 0.49 0.7 0.8 0.6918 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750836 NA NA 0.68093 0.776668 ID=COSN166461;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.768 NA 3.93147 1259 1 118497292 118497292 G A intronic SPAG17,WDR3 NA NA NA intronic ENSG00000065183,ENSG00000155761 NA NA NA NA NA 1p12 NA NA NA NA rs2295631 0.09 0.09 0.088 0.0852636 0.0278 0.3056 0.0101 0.0008 0.0849 0.03 0.3 0.02 0.002 0.0408 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798142 NA NA NA NA ID=COSN163201;OCCURENCE=1(NS) 0.043 NA 3.9314 1259 1 150416621 150416621 G C intronic RPRD2 NA NA NA intronic ENSG00000163125 NA NA NA NA NA 1q21.3 NA NA NA NA rs74124686 0.06 0.06 0.057 0.0545128 0.0686 0.001 0.0403 0.115 0.0235 0.07 0.0017 0.04 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123588 NA NA NA NA NA 0.051 NA 3.9314 1259 6 158296323 158296323 C T intronic SNX9 NA NA NA intronic ENSG00000130340 NA NA NA NA NA 6q25.3 NA NA NA NA rs35213314 0.03 0.03 0.027 0.0423323 0.0686 0.002 0.0216 0.0045 0.1227 0.07 0.0017 0.02 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348621 NA NA NA NA NA NA NA 3.9314 1259 10 135098519 135098519 G A intronic TUBGCP2 NA NA NA intronic ENSG00000130640 NA NA NA NA NA 10q26.3 NA NA NA NA rs72864790 0.05 0.05 0.05 0.04373 0.0686 0.001 0.0389 0.0809 0.0153 0.07 NA 0.05 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780389 NA NA NA NA NA 0.043 NA 3.9314 1259 12 124281474 124281474 G A intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs112316270 0.05 0.05 0.023 0.0513179 0.0686 0.001 0.0504 0.0983 0.0225 0.07 NA 0.06 0.07 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157206 NA NA NA NA NA 0.072 NA 3.9314 1259 12 124857293 124857293 G A intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs1109270 0.24 0.24 0.214 0.224441 0.0686 0.6081 0.1124 0.1959 0.1074 0.07 0.61 0.1 0.16 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213404 NA NA NA NA NA 0.159 NA 3.9314 1259 15 42436069 42436069 C T intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs77217281 0.05 0.05 0.065 0.0501198 0.0686 0.0169 0.0389 0.0794 0.0337 0.07 0.02 0.04 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162254 NA NA NA NA NA 0.08 NA 3.9314 1259 17 27238032 27238032 G A intronic PHF12 NA NA NA intronic ENSG00000109118 NA NA NA NA NA 17q11.2 NA NA NA NA rs75491281 0.03 0.03 0.032 0.0207668 0.0686 NA 0.0274 0.0015 0.0143 0.08 NA 0.02 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872043 NA NA NA NA NA 0.036 NA 3.9314 1259 20 17390095 17390095 A T intronic PCSK2 NA NA NA intronic ENSG00000125851 NA NA NA NA NA 20p12.1 NA NA NA NA rs2195108 0.06 0.06 0.057 0.0654952 0.0686 NA 0.0735 0.1392 0.0245 0.05 NA 0.06 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586 NA NA NA NA NA 0.152 NA 3.9314 1259 5 32061072 32061072 G A intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA NA NA NA rs72761539 0.02 0.02 0.013 0.0353435 0.0179 0.0099 0.013 0.0227 0.1125 0.02 0.01 0.02 0.02 0.0283 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.951008 2.951008 NA 0.022442 0.03291 NA 0.014 NA 3.931358 1259 1 114372524 114372524 A G intronic PTPN22 NA NA NA intronic ENSG00000134242 NA NA NA NA NA 1p13.2 NA NA NA NA rs34209542 0.01 0.01 0.013 0.0115815 0.0278 NA 0.0202 0.0023 0.0133 0.03 NA 0.02 0.002 0.0189 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403048 NA NA 0.022505 0.006007 NA 0.007 NA 3.930795 1259 11 71276632 71276632 T C UTR5 KRTAP5-10 NM_001012710:c.-2T>C NA NA UTR5 ENSG00000204572 ENST00000398531:c.-2T>C NA NA Score=440;Name=lod=82 NA 11q13.4 NA NA NA NA rs36164574 0.64 0.64 0.617 0.590455 0.4751 0.6151 0.6066 0.8691 0.2955 0.49 0.67 0.62 0.85 0.5012 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794492 NA NA 0.426587 0.800415 NA 0.384 NA 3.9304464 1259 8 72935045 72935045 G C ncRNA_UTR3 TRPA1 NA NA NA UTR3 ENSG00000104321 ENST00000262209:c.*96C>G NA NA NA NA 8q13.3 NA NA NA NA rs10086177 0.72 0.72 0.705 0.709864 0.5696 0.9187 0.6916 0.7088 0.6534 0.59 0.94 0.66 0.7 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589488 NA NA NA NA NA 0.63 NA 3.9304 1259 16 109665 109665 A G intronic RHBDF1 NA NA NA intronic ENSG00000007384 NA NA NA NA NA 16p13.3 NA NA NA NA rs3213509 0.15 0.15 0.106 0.196086 0.0696 0.3214 0.3055 0.0386 0.3323 0.07 0.3 0.25 0.04 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24758 NA NA NA NA NA 0.087 NA 3.9304 1259 6 26091336 26091336 T C intronic HFE NA NA NA intronic ENSG00000010704 NA NA NA NA NA 6p22.2 NA NA NA NA rs2071303 0.46 0.46 0.448 0.426717 0.3658 0.629 0.4222 0.379 0.3487 0.37 0.7 0.38 0.37 0.3686 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906519 NA NA 0.335581 0.365865 ID=COSM150061;OCCURENCE=1(stomach) 0.384 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117221.2;CLNDSDB=.;CLNDSDBID=. 3.930019 1259 1 75086412 75086412 G C intronic C1orf173 NA NA NA ncRNA_intronic ENSG00000234497 NA NA NA NA NA 1p31.1 NA NA NA NA rs41289218 0.16 0.16 0.143 0.171925 0.1292 0.2659 0.1787 0.0666 0.2566 0.14 0.25 0.18 0.08 0.1602 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03603 NA NA 0.114186 0.062188 NA 0.116 NA 3.9297473 1259 1 77635148 77635148 A G intronic PIGK NA NA NA intronic ENSG00000142892 NA NA NA NA NA 1p31.1 NA NA NA NA rs1779198 0.17 0.17 0.165 0.19349 0.0706 0.0387 0.2334 0.4697 0.0777 0.06 0.04 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395351 NA NA NA NA NA 0.188 NA 3.9294 1259 1 204945746 204945746 G C intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs6668366 0.1 0.1 0.102 0.0974441 0.0706 0.0099 0.0648 0.2262 0.0644 0.07 0.01 0.07 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649663 NA NA NA NA NA 0.13 NA 3.9294 1259 4 189064860 189064860 C A intronic TRIML1 NA NA NA intronic ENSG00000184108 NA NA NA NA NA 4q35.2 NA NA NA NA rs62351463 0.11 0.11 0.088 0.0988419 0.0706 0.1915 0.0793 0.0635 0.0941 0.07 0.22 0.09 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.180574 NA NA NA NA NA 0.065 NA 3.9294 1259 12 112321322 112321322 A G intronic MAPKAPK5 NA NA NA intronic ENSG00000089022 NA NA NA NA NA 12q24.13 NA NA NA NA rs75803132 0.04 0.04 0.038 0.0371406 0.0706 NA 0.0749 0.028 0.0266 0.06 NA 0.09 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340849 NA NA NA NA NA 0.08 NA 3.9294 1259 12 112459849 112459849 C T intronic ERP29 NA NA NA intronic ENSG00000089248 NA NA NA NA NA 12q24.13 NA NA NA NA rs80350869 0.05 0.05 0.049 0.0397364 0.0706 NA 0.072 0.0386 0.0276 0.06 NA 0.09 0.05 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232361 NA NA NA NA NA 0.08 NA 3.9294 1259 13 111099045 111099045 C G intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs59905747 0.15 0.15 0.133 0.122604 0.0706 0.2728 0.1643 0.0726 0.0593 0.07 0.3 0.15 0.09 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017682 NA NA NA NA NA 0.101 NA 3.9294 1259 14 62299016 62299016 G A intergenic SNAPC1,SYT16 dist=35870;dist=163525 NA NA ncRNA_exonic ENSG00000258956 NA NA NA NA NA 14q23.2 NA NA NA NA rs72716755 0.07 0.07 0.057 0.0539137 0.0706 0.0357 0.062 0.0696 0.0286 0.07 0.05 0.07 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381759 NA NA NA NA NA 0.123 NA 3.9294 1259 14 100188144 100188144 A C intronic CYP46A1 NA NA NA intronic ENSG00000036530 NA NA NA NA NA 14q32.2 NA NA NA NA rs2273840 0.08 0.08 0.067 0.0804712 0.0706 0.1389 0.1254 0.0121 0.091 0.06 0.14 0.13 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264631 NA NA NA NA NA 0.036 NA 3.9294 1259 14 105207642 105207642 C T intronic ADSSL1 NA NA NA intronic ENSG00000185100 NA NA NA NA NA 14q32.33 NA NA NA NA rs45463395 0.04 0.04 0.025 0.0507188 0.0706 0.0198 0.0346 0.0204 0.1145 0.07 0.03 0.04 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190514 NA NA NA NA NA 0.043 NA 3.9294 1259 15 63044446 63044446 T A intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs11638510 0.03 0.03 0.024 0.0219649 0.0706 NA 0.0288 0.003 0.0153 0.08 NA 0.03 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187523 NA NA NA NA NA NA NA 3.9294 1259 17 42929659 42929659 G C intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 NA NA NA NA rs56134215 0.04 0.04 0.029 0.0325479 0.0706 NA 0.0303 0.0356 0.0245 0.07 NA 0.04 0.04 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202552 NA NA NA NA NA 0.036 NA 3.9294 1259 19 4333625 4333625 G A intronic STAP2 NA NA NA intronic ENSG00000178078 NA NA NA NA NA 19p13.3 NA NA NA NA rs73534895 0.12 0.12 0.135 0.135184 0.0706 NA 0.0836 0.3601 0.0736 0.07 NA 0.07 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084876 NA NA NA NA NA 0.261 NA 3.9294 1259 19 9302143 9302143 A G intergenic OR7D2,OR7D4 dist=2650;dist=22383 NA NA ncRNA_exonic ENSG00000267775 NA NA NA NA NA 19p13.2 NA NA NA NA rs116246092 0.12 0.12 NA 0.123203 0.0706 0.1022 0.0692 0.2489 0.0675 0.07 0.11 0.06 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506124 NA NA NA NA NA NA NA 3.9294 1259 22 33679425 33679425 G C intronic LARGE NA NA NA intronic ENSG00000133424 NA NA NA NA NA 22q12.3 NA NA NA NA rs1018365 0.07 0.07 0.07 0.0702875 0.0706 0.001 0.0562 0.1762 0.0082 0.06 NA 0.05 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197066 NA NA NA NA NA 0.101 NA 3.9294 1259 14 22591988 22591988 C A intergenic OR4E2,DAD1 dist=457750;dist=441819 NA NA exonic ENSG00000211807 NA nonsynonymous SNV ENSG00000211807:ENST00000390455:exon2:c.C73A:p.P25T NA NA 14q11.2 NA NA NA NA rs2272550 0.27 0.27 0.282 0.262181 0.3052 0.3244 0.1988 0.1331 0.3732 0.31 0.35 0.23 0.12 0.3008 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.873647 NA 1 0.298719 0.175994 NA 0.181 NA 3.9286144 1259 19 6477333 6477333 G A intronic DENND1C NA NA NA intronic ENSG00000205744 NA NA NA NA NA 19p13.3 NA NA NA NA rs45574631 0.01 0.01 0.011 0.00898562 0.0268 NA 0.0159 0.0008 0.0061 0.02 NA 0.02 0.002 0.0204 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578428 1.578428 NA 0.024219 0.003199 NA 0.022 NA 3.928581 1259 1 20828726 20828726 C T intronic MUL1 NA NA NA intronic ENSG00000090432 NA NA NA NA NA 1p36.12 NA NA NA NA rs79865810 0.02 0.02 0.012 0.0101837 0.0258 NA 0.0259 0.0023 0.0041 0.03 NA 0.04 0.01 0.0171 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072083 NA NA 0.028605 0.004766 NA 0.014 NA 3.928495 1259 3 125279444 125279444 T C intronic OSBPL11 NA NA NA intronic ENSG00000144909 NA NA NA NA NA 3q21.2 NA NA NA NA rs12496976 0.05 0.05 0.042 0.0413339 0.0716 0.0347 0.0965 0.0045 0.0276 0.07 0.04 0.08 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476709 NA NA NA NA NA 0.029 NA 3.9284 1259 4 56736773 56736773 C T intronic EXOC1 NA NA NA intronic ENSG00000090989 NA NA NA NA NA 4q12 NA NA NA NA rs77829116 0.04 0.04 0.039 0.033147 0.0716 0.002 0.0288 0.0038 0.0685 0.08 0.0035 0.02 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391038 NA NA NA NA NA 0.072 NA 3.9284 1259 17 34305048 34305048 G A intronic CCL16 NA NA NA intronic ENSG00000161573 NA NA NA NA NA 17q12 NA NA NA NA rs7216969 0.09 0.09 0.079 0.104034 0.0716 0.0694 0.1628 0.1611 0.0542 0.07 0.04 0.13 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761666 NA NA NA NA NA 0.123 NA 3.9284 1259 17 34305071 34305071 C A intronic CCL16 NA NA NA intronic ENSG00000161573 NA NA NA NA NA 17q12 NA NA NA NA rs11080368 0.09 0.09 0.084 0.104034 0.0716 0.0694 0.1628 0.1611 0.0542 0.07 0.04 0.13 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950757 NA NA NA NA NA 0.123 NA 3.9284 1259 22 43023535 43023535 A G intronic CYB5R3 NA NA NA intronic ENSG00000100243 NA NA NA NA NA 22q13.2 NA NA NA NA rs137137 0.24 0.24 0.218 0.234625 0.0716 0.6647 0.1138 0.1188 0.2014 0.07 0.64 0.11 0.12 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586979 NA NA NA NA NA 0.109 NA 3.9284 1259 16 570557 570557 T C exonic RAB11FIP3 NA synonymous SNV RAB11FIP3:NM_001142272:exon11:c.T1227C:p.S409S,RAB11FIP3:NM_014700:exon13:c.T2115C:p.S705S exonic ENSG00000090565 NA synonymous SNV ENSG00000090565:ENST00000450428:exon11:c.T1227C:p.S409S,ENSG00000090565:ENST00000262305:exon13:c.T2115C:p.S705S,ENSG00000090565:ENST00000434585:exon14:c.T1878C:p.S626S,ENSG00000090565:ENST00000457159:exon14:c.T2250C:p.S750S NA NA 16p13.3 NA NA NA NA rs11537754 0.75 0.75 0.75 0.790935 0.5398 0.9911 0.6902 0.8381 0.8507 0.56 0.99 0.68 0.84 0.659 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188983 NA NA 0.539535 0.761245 NA 0.543 NA 3.9283316 1259 1 223178561 223178561 A C exonic DISP1 NA synonymous SNV DISP1:NM_032890:exon10:c.A3822C:p.P1274P exonic ENSG00000154309 NA synonymous SNV ENSG00000154309:ENST00000284476:exon8:c.A3822C:p.P1274P NA NA 1q41 NA NA NA NA rs9441941 0.52 0.52 0.505 0.498003 0.6163 0.4782 0.5346 0.4153 0.4826 0.6 0.48 0.56 0.42 0.5453 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15137 NA NA 0.576744 0.453246 ID=COSM146786;OCCURENCE=1(stomach) 0.471 NA 3.9283226 1259 15 41275014 41275014 T G intronic INO80 NA NA NA intronic ENSG00000128908 NA NA NA NA NA 15q15.1 NA Name=CTCF NA NA rs7173954 0.25 0.25 0.248 0.243411 0.3797 0.0069 0.2493 0.3321 0.2229 0.39 0.01 0.25 0.33 0.3145 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094699 NA NA 0.377482 0.326818 NA 0.297 NA 3.928318 1259 14 101423634 101423634 T C downstream SNORD114-6 NA NA NA ncRNA_intronic ENSG00000225746 NA NA NA NA NA 14q32.31 NA NA NA NA rs12887775 0.11 0.11 0.095 0.091254 0.2386 0.0119 0.1412 0.0121 0.093 0.24 0.01 0.17 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336981 NA NA NA NA NA 0.138 NA 3.9280666 1259 1 156503560 156503560 C T intronic IQGAP3 NA NA NA intronic ENSG00000183856 NA NA NA NA NA 1q23.1 NA NA NA NA rs41267377 0.02 0.02 0.008 0.0107827 0.0258 NA 0.0303 0.0008 0.0061 0.03 NA 0.04 0.002 0.0191 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39838 NA NA 0.027093 0.003404 NA 0.022 NA 3.928007 1259 17 7700687 7700687 C T intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs118044889 0.01 0.01 0.01 0.00778754 0.0338 NA 0.0072 NA NA 0.03 NA 0.0028 NA 0.0162 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067476 NA NA 0.022093 0.002724 NA 0.007 NA 3.927907 1259 11 86868466 86868466 A T intronic TMEM135 NA NA NA intronic ENSG00000166575 NA NA NA NA NA 11q14.2 NA NA NA NA rs79262699 0.01 0.01 0.01 0.0159744 0.0239 0.002 0.0346 0.0008 0.0297 0.03 0.0017 0.02 NA 0.0246 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.905213 1.905213 NA 0.023726 0.004543 NA 0.014 NA 3.927774 1259 19 42267632 42267632 T C intronic CEACAM6 NA NA NA ncRNA_intronic ENSG00000268833 NA NA NA NA NA 19q13.2 NA NA NA NA rs1971787 0.51 0.51 0.501 0.513778 0.4056 0.5625 0.5317 0.6157 0.4243 0.41 0.58 0.49 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162621 NA NA NA NA NA 0.442 NA 3.9277333 1259 19 42267670 42267670 G C intronic CEACAM6 NA NA NA ncRNA_intronic ENSG00000268833 NA NA NA NA NA 19q13.2 NA NA NA NA rs8105477 0.51 0.51 0.486 0.508586 0.4056 0.5625 0.5317 0.5961 0.4243 0.41 0.58 0.49 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610298 NA NA NA NA NA 0.435 NA 3.9277333 1259 19 42267724 42267724 T C intronic CEACAM6 NA NA NA ncRNA_intronic ENSG00000268833 NA NA NA NA NA 19q13.2 NA NA NA NA rs8106277 0.54 0.54 0.535 0.552117 0.4056 0.5625 0.5519 0.7504 0.4243 0.41 0.58 0.51 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786258 NA NA NA NA NA 0.507 NA 3.9277333 1259 17 18542074 18542074 G A intronic TBC1D28 NA NA NA intronic ENSG00000189375 NA NA NA Score=321;Name=lod=27 NA 17p11.2 NA NA NA NA rs9908833 0.69 0.69 0.689 0.709265 0.5487 0.9583 0.6441 0.7095 0.6636 0.53 0.94 0.64 0.7 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701605 NA NA 0.52357 0.710983 NA 0.377 NA 3.92773 1259 2 98414015 98414015 T C intronic TMEM131 NA NA NA intronic ENSG00000075568 NA NA NA NA NA 2q11.2 NA NA NA NA rs79297691 0.04 0.04 0.039 0.0449281 0.0239 NA 0.036 0.1324 0.001 0.02 NA 0.04 0.12 0.0248 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439056 NA NA 0.0236 0.088859 NA 0.036 NA 3.9277 1259 8 27641466 27641466 A G intronic ESCO2 NA NA NA intronic ENSG00000171320 NA NA NA NA NA 8p21.1 NA NA NA NA rs138021116 0.01 0.01 0.01 0.0219649 0.0268 NA 0.0259 0.0015 0.0644 0.02 NA 0.04 0.0041 0.0246 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114039 NA NA 0.020935 0.003404 NA NA NA 3.927665 1259 1 16343815 16343815 C A intronic HSPB7 NA NA NA intronic ENSG00000173641 NA NA NA NA NA 1p36.13 NA NA NA NA rs1739845 0.07 0.07 0.046 0.0848642 0.0726 0.0833 0.0591 0.0522 0.1616 0.08 0.05 0.06 0.07 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509095 NA NA NA NA NA 0.043 NA 3.9274 1259 1 150970811 150970811 G C intronic FAM63A NA NA NA intronic ENSG00000143409 NA NA NA NA NA 1q21.3 NA NA NA NA rs74602660 0.15 0.15 0.16 0.153554 0.0726 0.1587 0.0764 0.2965 0.093 0.07 0.17 0.07 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273415 NA NA NA NA NA 0.116 NA 3.9274 1259 2 7136981 7136981 C T intronic RNF144A NA NA NA intronic ENSG00000151692 NA NA NA NA NA 2p25.1 NA NA NA NA rs11689407 0.06 0.06 0.065 0.0816693 0.0726 NA 0.0288 0.1339 0.1421 0.07 NA 0.04 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487521 NA NA NA NA NA 0.13 NA 3.9274 1259 6 17284760 17284760 A G intronic RBM24 NA NA NA intronic ENSG00000112183 NA NA NA NA NA 6p22.3 NA NA NA NA rs3763175 0.08 0.08 0.072 0.0746805 0.0726 0.1677 0.0461 0.0182 0.0777 0.07 0.17 0.05 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.667843 NA NA NA NA NA 0.087 NA 3.9274 1259 7 5922322 5922322 C A intronic OCM NA NA NA intronic ENSG00000122543 NA NA NA NA NA 7p22.1 NA NA NA NA rs41280705 0.06 0.06 0.042 0.0623003 0.0726 0.0585 0.0706 0.0174 0.1104 0.07 0.06 0.08 0.02 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.526753 1.526753 NA NA NA NA 0.043 NA 3.9274 1259 11 124956298 124956298 C T intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs3808996 0.19 0.19 0.161 0.179912 0.0726 0.4722 0.1254 0.0257 0.2362 0.09 0.5 0.12 0.04 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449209 NA NA NA NA NA 0.065 NA 3.9274 1259 2 163124104 163124104 C T intronic IFIH1 NA NA NA intronic ENSG00000115267 NA NA NA NA NA 2q24.2 NA NA NA NA rs36070180 0.01 0.01 0.009 0.00678914 0.0229 NA 0.0115 0.0008 0.002 0.02 NA 0.01 NA 0.0196 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427655 NA NA 0.030123 0.005447 NA 0.007 NA 3.927377 1259 9 79843002 79843002 A G intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA NA NA NA rs72742592 0.01 0.01 0.008 0.00698882 0.0219 NA 0.0086 0.0015 0.0051 0.02 NA 0.01 0.002 0.0249 0.026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949451 NA NA 0.025933 0.00413 NA NA NA 3.927267 1259 7 28319234 28319234 A C intergenic JAZF1-AS1,CREB5 dist=38238;dist=19706 NA NA ncRNA_exonic ENSG00000174495 NA NA NA Score=462;Name=lod=101 NA 7p15.1 NA NA NA NA rs177484 0.66 0.66 0.644 0.695487 0.5447 0.7063 0.6282 0.8585 0.6667 0.55 0.69 0.6 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.839228 NA NA 0.528284 0.806358 NA 0.543 NA 3.927016 1259 2 179258923 179258923 C T ncRNA_intronic MIR548N NA NA NA intronic ENSG00000079156 NA NA NA NA NA 2q31.2 NA NA NA NA rs919177 0.54 0.54 0.526 0.578874 0.4066 0.7431 0.6383 0.5393 0.5982 0.41 0.73 0.57 0.51 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935823 NA NA NA NA NA 0.486 NA 3.9267333 1259 5 176308657 176308657 C T intronic HK3 NA NA NA intronic ENSG00000160883 NA NA NA NA NA 5q35.2 NA NA NA NA rs146173758 0.01 0.01 0.005 0.0169728 0.0229 0.001 0.0173 0.0008 0.0491 0.03 NA 0.02 NA 0.0261 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415479 NA NA 0.024302 0.004312 NA NA NA 3.926698 1259 6 128040676 128040676 A G intronic THEMIS NA NA NA intronic ENSG00000172673 NA NA NA NA NA 6q22.33 NA NA NA NA rs11758347 0.03 0.03 0.026 0.0253594 0.0736 NA 0.0331 0.0068 0.0215 0.07 NA 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5218 NA NA NA NA NA 0.007 NA 3.9264 1259 11 56785625 56785625 G T intergenic OR5AK2,OR5AK4P dist=28307;dist=19384 NA NA ncRNA_exonic ENSG00000255083 NA NA NA NA NA 11q12.1 NA NA NA NA rs10792074 0.12 0.12 0.11 0.119808 0.0736 0.3413 0.0749 0.0242 0.1002 0.07 0.31 0.05 0.03 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.733315 NA NA NA NA NA 0.152 NA 3.9264 1259 14 20873540 20873540 G A intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs111675106 NA NA NA 0.0974441 0.0736 0.1012 0.0807 0.1188 0.1012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854875 NA NA NA NA NA NA NA 3.9264 1259 5 95116141 95116141 A T intronic RHOBTB3 NA NA NA intronic ENSG00000164292,ENSG00000173221 NA NA NA NA NA 5q15 NA NA NA NA rs55706606 0.02 0.02 0.016 0.0457268 0.0249 0.0228 0.0144 0.0401 0.1207 0.03 0.01 0.01 0.03 0.0314 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319612 NA NA 0.017674 0.042215 NA 0.043 NA 3.926026 1259 3 57658222 57658222 A T intronic DENND6A NA NA NA intronic ENSG00000174839 NA NA NA NA NA 3p14.3 NA NA NA NA rs1473367 0.02 0.02 0.011 0.0151757 0.0398 NA 0.0259 0.0023 0.0153 0.04 NA 0.02 0.002 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.293483 1.293483 NA 0.034342 0.004335 NA 0.022 NA 3.925858 1259 17 41330024 41330024 T C intronic NBR1 NA NA NA intronic ENSG00000188554 NA NA NA Score=582;Name=lod=308 NA 17q21.31 NA NA NA NA rs11657883 0.3 0.3 0.277 0.336062 0.3579 0.371 0.3631 0.1566 0.501 0.36 0.33 0.38 0.13 0.3905 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273862 NA NA 0.32583 0.187639 ID=COSM148281;OCCURENCE=1(stomach) 0.254 NA 3.92577 1259 1 16356870 16356870 G A intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs9442191 0.08 0.08 0.086 0.105232 0.0746 0.0992 0.062 0.1142 0.1616 0.08 0.07 0.06 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374791 NA NA NA NA NA 0.065 NA 3.9254 1259 2 29543514 29543514 C T intronic ALK NA NA NA intronic ENSG00000171094 NA NA NA NA NA 2p23.2 NA NA NA NA rs12151564 0.06 0.06 0.049 0.0726837 0.0746 0.0417 0.0634 0.0605 0.1258 0.08 0.04 0.07 0.05 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318733 NA NA NA NA NA 0.065 NA 3.9254 1259 2 118575414 118575414 C T intronic DDX18 NA NA NA intronic ENSG00000088205 NA NA NA NA NA 2q14.1 NA NA NA NA rs72834313 0.03 0.03 0.03 0.0303514 0.0746 NA 0.0317 0.0023 0.0532 0.07 NA 0.04 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236753 NA NA NA NA NA 0.065 NA 3.9254 1259 2 118582817 118582817 G C intronic DDX18 NA NA NA intronic ENSG00000088205 NA NA NA NA NA 2q14.1 NA NA NA NA rs72834319 0.03 0.03 0.024 0.0303514 0.0746 NA 0.0317 0.0023 0.0532 0.07 NA 0.04 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356985 NA NA NA NA NA 0.065 NA 3.9254 1259 2 165559856 165559856 A G intronic COBLL1 NA NA NA intronic ENSG00000082438 NA NA NA NA NA 2q24.3 NA NA NA NA rs35492512 0.06 0.06 0.061 0.0565096 0.0746 0.0327 0.0562 0.0635 0.0532 0.07 0.04 0.07 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160686 NA NA NA NA NA 0.065 NA 3.9254 1259 2 175335365 175335365 A G intronic GPR155 NA NA NA intronic ENSG00000163328 NA NA NA NA NA 2q31.1 NA NA NA NA rs56101059 0.03 0.03 0.027 0.0217652 0.0746 NA 0.0375 0.0008 0.0072 0.07 NA 0.04 0.002 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46086 NA NA NA NA NA 0.022 NA 3.9254 1259 4 79258775 79258775 G A intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs10010238 0.1 0.1 0.124 0.0982428 0.0746 0.0575 0.0562 0.1997 0.0573 0.08 0.06 0.06 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093614 NA NA NA NA NA 0.138 NA 3.9254 1259 6 26598418 26598418 A T intronic ABT1 NA NA NA intronic ENSG00000146109 NA NA NA NA NA 6p22.2 NA NA NA NA rs7768682 0.06 0.06 0.064 0.0706869 0.0746 0.0179 0.0735 0.09 0.093 0.07 0.01 0.07 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.218925 NA NA NA NA NA 0.065 NA 3.9254 1259 8 139636119 139636119 C T intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs57299725 0.07 0.07 0.082 0.067492 0.0746 0.0208 0.0634 0.1339 0.0215 0.07 0.02 0.08 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65393 NA NA NA NA NA 0.152 NA 3.9254 1259 12 27470489 27470489 T C intronic STK38L NA NA NA intronic ENSG00000211455 NA NA NA NA NA 12p11.23 NA NA NA NA rs75908625 0.04 0.04 0.045 0.0359425 0.0746 0.0347 0.0375 0.0038 0.0399 0.08 0.04 0.03 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306197 NA NA NA NA NA 0.101 NA 3.9254 1259 16 4038906 4038906 C T intronic ADCY9 NA NA NA intronic ENSG00000162104 NA NA NA NA NA 16p13.3 NA NA NA NA rs2072342 0.1 0.1 0.096 0.0888578 0.0746 0.2014 0.0461 0.0333 0.093 0.08 0.2 0.07 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485467 NA NA NA NA NA 0.051 NA 3.9254 1259 5 176308655 176308655 C A intronic HK3 NA NA NA intronic ENSG00000160883 NA NA NA NA NA 5q35.2 NA NA NA NA rs141653594 0.02 0.02 0.011 0.0217652 0.0229 0.001 0.0173 0.0189 0.0491 0.03 NA 0.02 0.02 0.0271 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032483 NA NA 0.024651 0.015207 NA 0.007 NA 3.925349 1259 6 33179376 33179376 T G intronic RING1 NA NA NA intronic ENSG00000204227 NA NA NA NA NA 6p21.32 NA NA NA NA rs9469382 0.03 0.03 0.027 0.0313498 0.0368 0.0129 0.0288 0.0303 0.0481 0.03 0.01 0.04 0.04 0.0379 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455533 NA NA NA NA NA 0.065 NA 3.9253 1260 1 248112627 248112627 T C exonic OR2L8 NA synonymous SNV OR2L8:NM_001001963:exon1:c.T468C:p.C156C exonic ENSG00000196936 NA synonymous SNV ENSG00000196936:ENST00000357191:exon1:c.T468C:p.C156C NA NA 1q44 NA NA NA NA rs4925787 0.46 0.46 0.332 0.411941 0.6103 0.4385 0.549 0.0893 0.5194 0.64 0.46 0.54 0.11 0.5293 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29299 NA NA 0.602093 0.187472 NA 0.5 NA 3.9249736 1260 6 44107559 44107559 G A intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs72858118 0.14 0.14 0.12 0.122005 0.0477 0.2242 0.1527 0.1172 0.0777 0.05 0.26 0.13 0.13 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484805 NA NA 0.027341 0.085983 NA 0.101 NA 3.924959 1260 7 6875212 6875212 C T intergenic CCZ1B,LOC100131257 dist=9286;dist=240189 NA NA intergenic ENSG00000146574,ENSG00000155070 dist=8811;dist=19904 NA NA Score=409;Name=lod=61 NA 7p22.1 NA NA NA NA rs4724863 NA NA 0.327 0.464257 0.4085 0.4762 0.4957 0.3457 0.6472 NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65573 NA NA NA NA NA 0.29 NA 3.9248334 1260 1 115600081 115600081 G C intronic TSPAN2 NA NA NA intronic ENSG00000134198 NA NA NA NA NA 1p13.2 NA NA NA NA rs3820630 0.08 0.08 0.08 0.0922524 0.0755 0.0149 0.0821 0.1974 0.0542 0.06 0.02 0.09 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.025942 2.025942 NA NA NA NA 0.13 NA 3.9245 1260 1 201030988 201030988 C T intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs61614423 0.11 0.11 0.126 0.111222 0.0755 0.0675 0.1009 0.2088 0.0685 0.08 0.07 0.09 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449792 NA NA NA NA NA 0.123 NA 3.9245 1260 1 244747339 244747339 G A intronic C1orf101 NA NA NA intronic ENSG00000179397 NA NA NA NA NA 1q44 NA NA NA NA rs6429490 0.24 0.24 0.217 0.259984 0.0755 0.372 0.2378 0.3911 0.1728 0.07 0.36 0.23 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035024 NA NA NA NA NA 0.138 NA 3.9245 1260 11 10500334 10500334 T C intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs36106536 0.03 0.03 0.025 0.0229633 0.0755 NA 0.0346 0.003 0.0112 0.07 NA 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669214 NA NA NA NA NA 0.014 NA 3.9245 1260 11 10503411 10503411 G A intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs11042835 0.03 0.03 0.03 0.0231629 0.0755 NA 0.0346 0.003 0.0123 0.07 NA 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436238 NA NA NA NA NA 0.014 NA 3.9245 1260 16 1573754 1573754 C T intronic IFT140 NA NA NA intronic ENSG00000187535 NA NA NA NA NA 16p13.3 NA NA NA NA rs78028801 0.14 0.14 0.119 0.16254 0.0755 0.2778 0.0677 0.1513 0.2157 0.08 0.26 0.07 0.12 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594879 NA NA NA NA NA 0.13 NA 3.9245 1260 16 19522101 19522101 T C intronic GDE1 NA NA NA intronic ENSG00000006007 NA NA NA NA NA 16p12.3 NA NA NA NA rs2074171 0.25 0.25 0.236 0.243411 0.0755 0.3829 0.2579 0.3457 0.1237 0.07 0.38 0.21 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769659 NA NA NA NA NA 0.225 NA 3.9245 1260 17 5437093 5437093 C A intronic NLRP1 NA NA NA intronic ENSG00000091592 NA NA NA NA NA 17p13.2 NA NA NA NA rs117114494 0.04 0.04 0.026 0.0249601 0.0755 0.001 0.049 0.0045 0.0082 0.07 NA 0.07 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414335 NA NA NA NA NA 0.087 NA 3.9245 1260 19 15675000 15675000 C T intergenic CYP4F22,CYP4F8 dist=11872;dist=51029 NA NA ncRNA_exonic ENSG00000269516 NA NA NA NA NA 19p13.12 NA NA NA NA rs111968805 0.04 0.04 0.034 0.0355431 0.0755 0.0089 0.0389 0.0038 0.0624 0.07 0.01 0.04 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250095 NA NA NA NA NA 0.036 NA 3.9245 1260 4 37651155 37651155 A G intronic RELL1 NA NA NA intronic ENSG00000181826 NA NA NA NA Name=IgG glycosylation 4p14 NA NA NA NA rs2292298 0.31 0.31 0.306 0.298123 0.3668 0.3194 0.3069 0.2231 0.3006 0.37 0.31 0.3 0.24 0.3315 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.84356 NA NA 0.37758 0.238791 NA 0.275 NA 3.92412 1260 12 52699213 52699213 G T intronic KRT86 NA NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs12832364 0.3 0.3 0.293 0.319489 0.3648 0.1726 0.2911 0.3533 0.3988 0.35 0.17 0.3 0.38 0.3414 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004126 NA NA 0.369884 0.363141 ID=COSN164254;OCCURENCE=1(breast) 0.319 NA 3.923916 1260 19 41351843 41351843 G A intronic CYP2A6 NA NA NA intronic ENSG00000255974,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs28399451 0.05 0.05 0.039 0.0551118 0.0209 NA 0.0317 0.1687 0.0102 0.02 NA 0.05 0.14 0.0333 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540481 NA NA 0.021992 0.146618 NA 0.051 NA 3.923808 1260 3 105252398 105252398 A C intronic ALCAM NA NA NA intronic ENSG00000170017 NA NA NA NA NA 3q13.11 NA NA NA NA rs148287455 0.01 0.01 0.008 0.00838658 0.0298 NA 0.013 0.0008 0.002 0.03 NA 0.01 0.002 0.0204 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064289 NA NA 0.026163 0.004993 NA 0.014 NA 3.923637 1260 1 119988688 119988688 G A intergenic HSD3B2,HSD3B1 dist=23026;dist=61138 NA NA ncRNA_exonic ENSG00000203858 NA NA NA NA NA 1p12 NA NA NA NA rs11802681 0.14 0.14 0.135 0.159944 0.0765 0.0625 0.1513 0.3162 0.1411 0.07 0.05 0.16 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753245 NA NA NA NA NA 0.188 NA 3.9235 1260 1 43777855 43777855 C T intronic TIE1 NA NA NA intronic ENSG00000066056 NA NA NA NA NA 1p34.2 NA NA NA NA rs35909386 0.03 0.03 0.032 0.0275559 0.0765 NA 0.036 0.0061 0.0286 0.07 NA 0.05 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.15625 NA NA NA NA NA 0.022 NA 3.9235 1260 4 71388666 71388666 C T intronic AMTN NA NA NA intronic ENSG00000187689 NA NA NA NA NA 4q13.3 NA NA NA NA rs17149005 0.08 0.08 0.084 0.0826677 0.0765 NA 0.0519 0.2103 0.0235 0.08 NA 0.06 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525625 NA NA NA NA NA 0.21 NA 3.9235 1260 7 151073093 151073093 C T intronic NUB1 NA NA NA intronic ENSG00000013374 NA NA NA NA NA 7q36.1 NA NA NA NA rs731995 0.14 0.14 0.103 0.140176 0.0765 0.3383 0.2435 0.0106 0.1033 0.07 0.31 0.19 0.01 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389118 NA NA NA NA NA 0.159 NA 3.9235 1260 11 1587168 1587168 C T intronic DUSP8,MOB2 NA NA NA intronic ENSG00000184545 NA NA NA NA NA 11p15.5 NA NA NA NA rs79838852 0.04 0.04 0.03 0.0251597 0.0765 0.002 0.0389 0.0008 0.0194 0.08 NA 0.05 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.52871 NA NA NA NA NA 0.043 NA 3.9235 1260 14 65209610 65209610 C G intronic PLEKHG3 NA NA NA intronic ENSG00000126822 NA NA NA NA NA 14q23.3 NA NA NA NA rs7161278 0.04 0.04 0.037 0.0399361 0.0765 0.0357 0.0202 0.0068 0.0654 0.08 0.03 0.02 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949499 NA NA NA NA NA 0.022 NA 3.9235 1260 14 105238636 105238636 G C intronic AKT1 NA NA NA intronic ENSG00000142208 NA NA NA NA NA 14q32.33 NA NA NA NA rs17846832 0.04 0.04 0.038 0.0541134 0.0765 0.0179 0.0346 0.0212 0.1268 0.08 0.03 0.04 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408539 NA NA NA NA NA 0.029 NA 3.9235 1260 5 147261557 147261557 T G intronic SCGB3A2 NA NA NA intronic ENSG00000164265 NA NA NA NA NA 5q32 NA NA NA NA rs6890965 0.06 0.06 0.061 0.0690895 0.0179 0.001 0.0288 0.2057 0.0358 0.02 NA 0.02 0.21 0.0368 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.557291 1.557291 NA 0.02186 0.189968 NA 0.188 NA 3.92344 1260 6 44144092 44144092 C T intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA NA NA rs58342131 0.06 0.06 0.069 0.0798722 0.0169 0.001 0.0346 0.2504 0.0276 0.02 NA 0.03 0.23 0.0401 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257743 NA NA 0.019565 0.21999 NA 0.145 NA 3.923435 1260 2 179203797 179203797 G A exonic OSBPL6 NA synonymous SNV OSBPL6:NM_145739:exon8:c.G807A:p.S269S,OSBPL6:NM_001201480:exon10:c.G870A:p.S290S,OSBPL6:NM_001201481:exon10:c.G870A:p.S290S,OSBPL6:NM_001201482:exon10:c.G870A:p.S290S,OSBPL6:NM_032523:exon10:c.G870A:p.S290S exonic ENSG00000079156 NA synonymous SNV ENSG00000079156:ENST00000315022:exon8:c.G807A:p.S269S,ENSG00000079156:ENST00000409631:exon9:c.G870A:p.S290S,ENSG00000079156:ENST00000190611:exon10:c.G870A:p.S290S,ENSG00000079156:ENST00000357080:exon10:c.G870A:p.S290S,ENSG00000079156:ENST00000359685:exon10:c.G870A:p.S290S,ENSG00000079156:ENST00000392505:exon10:c.G870A:p.S290S,ENSG00000079156:ENST00000409045:exon10:c.G870A:p.S290S Score=673;Name=lod=725 NA 2q31.2 NA NA NA NA rs1434087 0.92 0.92 0.915 0.920927 0.9026 0.9663 0.9395 0.8714 0.9468 0.9 0.97 0.93 0.87 0.9283 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262578 1.262578 NA 0.912442 0.890604 NA 0.899 NA 3.9233246 1260 19 41351169 41351169 C T intronic CYP2A6 NA NA NA intronic ENSG00000255974,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs4803380 0.05 0.05 0.047 0.0551118 0.0209 NA 0.0317 0.1687 0.0102 0.02 NA 0.05 0.13 0.0335 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562715 NA NA 0.022326 0.144803 NA 0.036 NA 3.923274 1260 6 109815351 109815351 T C intronic AK9 NA NA NA ncRNA_intronic ENSG00000223537 NA NA NA NA NA 6q21 NA NA NA NA rs7755941 0.4 0.4 0.38 0.380591 0.4105 0.378 0.4107 0.2814 0.4652 0.41 0.45 0.41 0.3 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.776772 1.776772 NA NA NA NA 0.348 NA 3.9228333 1260 14 23459156 23459156 G A intronic C14orf93 NA NA NA ncRNA_exonic ENSG00000258457 NA NA NA NA NA 14q11.2 NA NA NA NA rs11624528 0.31 0.31 0.294 0.282348 0.4105 0.1915 0.33 0.2352 0.274 0.41 0.22 0.34 0.25 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.720019 1.720019 NA NA NA NA 0.297 NA 3.9228333 1260 5 175798945 175798945 A C UTR3 ARL10 NM_173664:c.*47A>C NA NA UTR3 ENSG00000175414 ENST00000310389:c.*47A>C NA NA NA NA 5q35.2 NA NA NA NA rs10214381 0.08 0.08 0.072 0.0545128 0.1461 0.001 0.0749 0.0393 0.0215 0.15 NA 0.1 0.03 0.1118 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467477 NA NA 0.152791 0.05606 NA 0.029 NA 3.9226424 1260 5 147261236 147261236 C G intronic SCGB3A2 NA NA NA intronic ENSG00000164265 NA NA NA NA NA 5q32 NA NA NA NA rs6865419 0.1 0.1 0.116 NA NA NA NA NA NA 0.02 NA 0.03 0.4 0.0554 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146909 NA NA 0.022093 0.333182 NA 0.246 NA 3.922507 1260 1 244724550 244724550 G A intronic C1orf101 NA NA NA intronic ENSG00000179397 NA NA NA NA NA 1q44 NA NA NA NA rs12217134 0.26 0.26 0.243 0.27516 0.0775 0.3849 0.2464 0.4327 0.1728 0.07 0.37 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.554867 NA NA NA NA NA 0.239 NA 3.9225 1260 2 233749914 233749914 G A intronic NGEF NA NA NA intronic ENSG00000066248 NA NA NA NA NA 2q37.1 NA NA NA NA rs80050391 0.08 0.08 0.053 0.112021 0.0775 0.1131 0.1052 0.025 0.2689 0.08 0.1 0.1 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.046683 NA NA NA NA NA 0.087 NA 3.9225 1260 3 142520900 142520900 G A intronic TRPC1 NA NA NA intronic ENSG00000144935 NA NA NA NA NA 3q23 NA NA NA NA rs12634067 0.1 0.1 0.073 0.0848642 0.0775 0.1409 0.1888 0.0129 0.0583 0.08 0.15 0.17 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119339 NA NA NA NA NA 0.043 NA 3.9225 1260 4 166978220 166978220 G C intronic TLL1 NA NA NA intronic ENSG00000038295 NA NA NA NA NA 4q32.3 NA NA NA NA rs41280517 0.07 0.07 0.065 0.0513179 0.0775 0.125 0.0231 0.0129 0.0204 0.08 0.13 0.02 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566513 NA NA NA NA NA 0.116 NA 3.9225 1260 7 133861905 133861905 A G intronic LRGUK NA NA NA intronic ENSG00000155530 NA NA NA NA NA 7q33 NA NA NA NA rs17167592 0.22 0.22 0.186 0.216853 0.0775 0.3849 0.3818 0.1672 0.137 0.06 0.38 0.32 0.18 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.554636 NA NA NA NA NA 0.123 NA 3.9225 1260 7 133868667 133868667 T C intronic LRGUK NA NA NA intronic ENSG00000155530 NA NA NA NA NA 7q33 NA NA NA NA rs6952909 0.22 0.22 0.185 0.216853 0.0775 0.3849 0.3818 0.1672 0.137 0.06 0.38 0.32 0.18 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828521 NA NA NA NA NA 0.123 NA 3.9225 1260 9 3277260 3277260 A G intronic RFX3 NA NA NA intronic ENSG00000080298 NA NA NA NA NA 9p24.2 NA NA NA NA rs2304929 0.15 0.15 0.131 0.127995 0.0775 0.3611 0.072 0.0008 0.1513 0.08 0.41 0.07 0.002 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713529 1.713529 NA NA NA NA 0.051 NA 3.9225 1260 10 101998052 101998052 A G intronic CWF19L1 NA NA NA intronic ENSG00000095485 NA NA NA NA NA 10q24.31 NA NA NA NA rs3750709 0.22 0.22 0.223 0.251198 0.0775 0.1419 0.1326 0.5998 0.1554 0.09 0.15 0.13 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094897 NA NA NA NA NA 0.181 NA 3.9225 1260 12 59307957 59307957 C T intronic LRIG3 NA NA NA intronic ENSG00000139263 NA NA NA NA NA 12q14.1 NA NA NA NA rs11834094 0.14 0.14 0.109 0.171126 0.0775 0.2629 0.268 0.0983 0.2025 0.07 0.2 0.22 0.11 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340065 NA NA NA NA ID=COSN164293;OCCURENCE=1(NS) 0.13 NA 3.9225 1260 14 99439648 99439648 G A intergenic C14orf177,BCL11B dist=255545;dist=195977 NA NA upstream ENSG00000232573,ENSG00000234648 NA NA NA Score=767;Name=lod=1738 NA 14q32.2 NA NA NA NA rs4905786 0.45 0.45 0.417 0.411542 0.5775 0.4881 0.562 0.1051 0.4693 0.56 0.49 0.57 0.14 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.545366 1.545366 NA NA NA NA 0.42 NA 3.9225 1260 17 76129034 76129034 C T intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA NA NA NA rs60591028 0.09 0.09 0.084 0.0858626 0.0775 0.0843 0.0634 0.1309 0.0511 0.07 0.09 0.07 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771508 NA NA NA NA NA 0.08 NA 3.9225 1260 11 60102350 60102350 C T upstream MS4A6E NA NA NA UTR5 ENSG00000166926 ENST00000300182:c.-19C>T NA NA NA NA 11q12.2 NA NA NA NA rs76804792 0.01 0.01 0.011 0.00778754 0.0288 NA 0.0014 0.0008 0.0082 0.03 NA NA 0.002 0.0202 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701388 NA NA 0.028605 0.004993 NA NA NA 3.922395 1260 1 89272962 89272962 T G intronic PKN2 NA NA NA intronic ENSG00000065243 NA NA NA NA NA 1p22.2 NA NA NA NA rs11808481 0.04 0.04 0.038 0.0339457 0.0338 NA 0.0144 0.0855 0.0133 0.04 NA 0.02 0.1 0.0263 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258697 1.258697 NA 0.017637 0.081889 NA 0.101 NA 3.922263 1260 1 76344826 76344826 G A intronic MSH4 NA NA NA intronic ENSG00000057468 NA NA NA NA NA 1p31.1 NA NA NA NA rs5745450 0.05 0.05 0.045 0.0529153 0.0179 NA 0.0403 0.1619 0.0051 0.01 NA 0.04 0.16 0.03 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.844195 3.844195 NA 0.03 0.116538 NA 0.014 NA 3.9221 1260 7 47886707 47886707 G A intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA Name=MafK_(ab50322) NA NA rs10280228 0.33 0.33 0.311 0.339058 0.3509 0.119 0.3401 0.5492 0.2689 0.36 0.12 0.36 0.51 0.3807 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730702 NA NA 0.346628 0.516803 NA 0.304 NA 3.921772 1260 3 14942024 14942024 T C intronic FGD5 NA NA NA intronic ENSG00000154783 NA NA NA NA NA 3p25.1 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),HNF4G_(SC-6558) NA NA rs2307088 0.41 0.41 0.38 0.42472 0.5328 0.3016 0.4841 0.3253 0.5327 0.53 0.26 0.47 0.33 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717409 NA NA 0.545569 0.325145 NA 0.37 NA 3.921631 1260 1 3784464 3784464 G A intronic DFFB NA NA NA intronic ENSG00000169598 NA NA NA NA NA 1p36.32 NA NA NA NA rs72848469 0.13 0.13 0.14 0.151558 0.0785 0.002 0.0879 0.4153 0.0695 0.07 0.0017 0.1 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.840751 NA NA NA NA NA 0.145 NA 3.9215 1260 2 197710542 197710542 A G intronic PGAP1 NA NA NA intronic ENSG00000197121 NA NA NA NA NA 2q33.1 NA NA NA NA rs16858898 0.11 0.11 0.111 0.134984 0.0785 0.0506 0.0793 0.2496 0.1646 0.08 0.06 0.09 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725797 NA NA NA NA ID=COSN166368;OCCURENCE=1(urinary_tract),6(pancreas),15(large_intestine) 0.225 NA 3.9215 1260 8 28966870 28966870 C T intronic KIF13B NA NA NA intronic ENSG00000197892 NA NA NA NA NA 8p12 NA NA NA NA rs2291450 0.16 0.16 0.152 0.182109 0.0785 0.2401 0.2997 0.146 0.1943 0.08 0.23 0.27 0.13 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051357 NA NA NA NA ID=COSN168296;OCCURENCE=1(large_intestine) 0.196 NA 3.9215 1260 10 45954807 45954807 A G intronic MARCH8 NA NA NA intronic ENSG00000165406 NA NA NA NA NA 10q11.21 NA NA NA NA rs2279433 0.07 0.07 0.078 0.0501198 0.0785 0.0536 0.0317 0.0552 0.0235 0.08 0.06 0.05 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927843 NA NA NA NA NA 0.014 NA 3.9215 1260 11 65792566 65792566 G T intronic CATSPER1 NA NA NA intronic ENSG00000175294 NA NA NA NA NA 11q13.1 NA NA NA NA rs683191 0.04 0.04 0.037 0.0269569 0.0785 0.001 0.0461 0.0076 0.0133 0.08 NA 0.06 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07316 NA NA NA NA NA 0.014 NA 3.9215 1260 12 26636911 26636911 C A intronic ITPR2 NA NA NA intronic ENSG00000123104 NA NA NA NA NA 12p11.23 NA NA NA NA rs7303383 0.15 0.15 0.156 0.183906 0.0785 0.248 0.0749 0.2776 0.1769 0.08 0.23 0.1 0.22 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034962 NA NA NA NA NA 0.145 NA 3.9215 1260 18 61156499 61156499 T C intronic SERPINB5 NA NA NA intronic ENSG00000206075 NA NA NA NA NA 18q21.33 NA NA NA NA rs17071181 0.24 0.24 0.267 0.308506 0.0785 0.2222 0.1527 0.6301 0.3098 0.07 0.2 0.12 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50236 NA NA NA NA NA 0.326 NA 3.9215 1260 20 46262994 46262994 G A intronic NCOA3 NA NA NA intronic ENSG00000124151 NA NA NA NA NA 20q13.12 NA NA NA NA rs6018606 0.1 0.1 0.123 0.102037 0.0785 0.0893 0.0735 0.1808 0.0532 0.08 0.08 0.06 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.350046 4.350046 NA NA NA NA 0.152 NA 3.9215 1260 5 70930966 70930966 A G intronic MCCC2 NA NA NA intronic ENSG00000131844 NA NA NA NA NA 5q13.2 NA NA NA NA rs277984 0.35 0.35 0.321 0.330072 0.3469 0.5248 0.5159 0.0862 0.3098 0.35 0.53 0.46 0.08 0.3673 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.470772 NA NA 0.364302 0.141625 NA 0.283 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082097.1;CLNDSDB=.;CLNDSDBID=. 3.921498 1260 17 30380381 30380381 A G UTR3 LRRC37B NM_052888:c.*34A>G NA NA UTR3 ENSG00000185158 ENST00000543378:c.*34A>G,ENST00000327564:c.*34A>G,ENST00000341671:c.*34A>G NA NA NA NA 17q11.2 NA NA NA NA rs17182434 0.07 0.07 0.067 0.0722843 0.1491 NA 0.0821 0.0053 0.1513 0.15 NA 0.09 0.01 0.1185 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949721 NA NA 0.144651 0.028597 NA 0.145 NA 3.9210824 1260 22 42908870 42908870 T G UTR3 RRP7A NM_015703:c.*46A>C NA NA UTR3 ENSG00000189306 ENST00000323013:c.*46A>C NA NA NA NA 22q13.2 NA NA NA NA rs9745 0.09 0.09 0.053 0.0764776 0.1461 0.003 0.1787 0.0582 0.0327 0.14 0.0017 0.19 0.05 0.1315 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517578 NA NA 0.134946 0.078756 NA 0.08 NA 3.9207874 1260 13 31513931 31513931 T A intronic TEX26 NA NA NA intronic ENSG00000175664 NA NA NA NA NA 13q12.3 NA NA Name=2 NA rs2225505 0.39 0.39 0.355 0.410543 0.3559 0.4464 0.3631 0.4758 0.3753 0.34 0.43 0.39 0.44 0.375 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512855 NA NA 0.348372 0.442578 NA 0.377 NA 3.920728 1260 19 49539586 49539586 G A intronic CGB1 NA NA NA intronic ENSG00000267335,ENSG00000267631 NA NA NA NA NA 19q13.33 NA NA NA NA rs117503795 0.02 0.02 0.01 0.0315495 0.0417 NA 0.1009 0.0015 0.045 0.03 NA 0.05 NA 0.0376 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93299 NA NA NA NA NA 0.007 NA 3.9207 1260 20 62550824 62550824 G A ncRNA_exonic MIR941-1 NA NA NA intronic ENSG00000101152 NA NA NA NA NA 20q13.33 NA NA NA NA rs2427556 0.39 0.39 0.48 0.455072 0.2227 0.7956 0.4352 0.5151 0.2761 0.2 0.64 0.35 0.41 0.19 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393397 NA NA NA NA NA NA NA 3.9206333 1260 9 137659236 137659236 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs45622539 0.03 0.03 0.025 0.0305511 0.0278 0.0585 0.0173 0.0204 0.0276 0.03 0.05 0.02 0.01 0.0273 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304245 NA NA 0.024302 0.021335 NA 0.065 NA 3.920598 1260 1 114092278 114092278 A G intronic MAGI3 NA NA NA intronic ENSG00000081026 NA NA NA NA NA 1p13.2 NA NA NA NA rs34297448 0.02 0.02 0.023 0.0175719 0.0268 0.0228 0.0187 0.0008 0.0245 0.03 0.03 0.02 0.002 0.023 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05317 NA NA 0.029651 0.004766 NA 0.014 NA 3.920549 1260 1 6196394 6196394 G A intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs72632523 0.09 0.09 0.07 0.101837 0.0795 0.1567 0.1009 0.0106 0.1922 0.09 0.15 0.11 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77744 NA NA NA NA NA 0.188 NA 3.9205 1260 1 23221855 23221855 A G intronic EPHB2 NA NA NA intronic ENSG00000133216 NA NA NA NA NA 1p36.12 NA NA NA NA rs77501996 0.04 0.04 0.042 0.0321486 0.0795 0.002 0.036 0.0038 0.0501 0.08 0.0017 0.05 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549134 NA NA NA NA NA 0.014 NA 3.9205 1260 1 247323195 247323195 T C intronic ZNF124 NA NA NA intronic ENSG00000196418 NA NA NA NA NA 1q44 NA NA NA NA rs4925786 0.1 0.1 0.086 0.0948482 0.0795 0.001 0.1686 0.1952 0.0194 0.08 0.0017 0.17 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785091 NA NA NA NA NA 0.087 NA 3.9205 1260 3 184021628 184021628 A C intronic PSMD2 NA NA NA intronic ENSG00000145191,ENSG00000175166 NA NA NA NA NA 3q27.1 NA NA NA NA rs9883929 0.09 0.09 0.033 0.096845 0.0795 0.0179 0.0548 0.2239 0.0542 0.08 0.03 0.06 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398716 NA NA NA NA NA 0.051 NA 3.9205 1260 6 20128852 20128852 T C intronic MBOAT1 NA NA NA intronic ENSG00000172197 NA NA NA NA NA 6p22.3 NA NA NA NA rs77837628 0.05 0.05 0.06 0.0684904 0.0795 0.004 0.0476 0.0779 0.1258 0.08 0.0017 0.06 0.07 NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369602 NA NA NA NA NA 0.058 NA 3.9205 1260 7 12269213 12269213 A C intronic TMEM106B NA NA NA intronic ENSG00000106460 NA NA NA NA NA 7p21.3 NA NA NA NA rs13234238 0.04 0.04 0.033 0.0279553 0.0795 NA 0.0533 0.0053 0.0164 0.08 NA 0.05 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.27362 2.27362 NA NA NA NA 0.029 NA 3.9205 1260 7 18975650 18975650 A G intronic HDAC9 NA NA NA intronic ENSG00000048052 NA NA NA NA NA 7p21.1 NA NA NA NA rs55653020 0.04 0.04 0.028 0.0305511 0.0795 NA 0.0562 0.0182 0.0102 0.07 NA 0.06 0.02 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.003491 NA NA NA NA NA 0.029 NA 3.9205 1260 7 133848076 133848076 A C intronic LRGUK NA NA NA intronic ENSG00000155530 NA NA NA NA NA 7q33 NA NA NA NA rs17167551 0.17 0.17 0.152 0.177516 0.0795 0.3234 0.1599 0.1619 0.1616 0.06 0.31 0.17 0.17 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.21725 2.21725 NA NA NA NA 0.116 NA 3.9205 1260 9 36058750 36058750 A G intronic RECK NA NA NA intronic ENSG00000122707 NA NA NA NA NA 9p13.3 NA NA NA NA rs78323948 0.15 0.15 0.125 0.129792 0.0795 0.2669 0.1225 0.0968 0.09 0.08 0.28 0.11 0.12 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.070807 NA NA NA NA NA 0.101 NA 3.9205 1260 10 43297746 43297746 T C intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA rs41302251 0.05 0.05 0.038 0.0688898 0.0795 0.0258 0.1311 0.0068 0.1421 0.06 0.02 0.14 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137922 NA NA NA NA NA 0.043 NA 3.9205 1260 8 143998677 143998677 G A intronic CYP11B2 NA NA NA intronic ENSG00000179142 NA NA NA NA NA 8q24.3 NA NA NA NA rs61757315 0.02 0.02 0.02 0.0189696 0.0239 0.001 0.0259 0.0121 0.0368 0.03 NA 0.02 0.01 0.0243 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83785 NA NA 0.031628 0.014072 NA 0.014 NA 3.920172 1260 19 39399277 39399277 C T intronic NFKBIB NA NA NA UTR3 ENSG00000104825 ENST00000392079:c.*930C>T,ENST00000509705:c.*1693C>T NA NA NA NA 19q13.2 NA NA NA NA rs3136646 0.17 0.17 0.149 0.190895 0.2465 0.1657 0.2118 0.0477 0.3384 0.23 0.19 0.19 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198433 NA NA NA NA NA 0.188 NA 3.9201667 1260 10 12240680 12240680 C T intronic CDC123 NA NA NA intronic ENSG00000151465 NA NA NA NA NA 10p13 NA NA NA NA rs12775058 0.01 0.01 0.012 0.00978435 0.0318 NA 0.0072 0.0015 0.0102 0.03 NA 0.01 0.002 0.0194 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467773 NA NA 0.028754 0.006582 NA NA NA 3.920046 1260 11 6890946 6890946 A G upstream OR10A2 NA NA NA UTR5 ENSG00000170790 ENST00000307322:c.-40A>G NA NA Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs4758142 0.31 0.31 0.299 0.324281 0.3569 0.3135 0.3732 0.2073 0.4254 0.36 0.31 0.35 0.2 0.3529 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207964 NA NA 0.370228 0.199 NA 0.268 NA 3.919972 1260 7 6641667 6641667 G T intronic C7orf26 NA NA NA intronic ENSG00000146576 NA NA NA NA NA 7p22.1 NA NA NA NA rs7789114 0.03 0.03 0.023 0.028155 0.0348 0.001 0.0288 0.0477 0.0225 0.04 NA 0.04 0.04 NA 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.191932 NA NA 0.045255 0.038295 NA 0.014 NA 3.919945 1260 16 30390314 30390314 T C intronic SEPT1,ZNF48 NA NA NA intronic ENSG00000180035,ENSG00000180096,ENSG00000270466 NA NA NA NA NA 16p11.2 NA Name=HMGN3,Pol2,USF1_(SC-8983),HEY1,ZBTB7A_(SC-34508),Egr-1,Pol2-4H8 Name=105 NA rs12447833 0.82 0.82 0.77 0.819888 0.673 0.9127 0.7939 0.9372 0.7352 0.69 0.91 0.79 0.92 0.7261 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474523 1.474523 NA 0.681073 0.891059 NA 0.725 NA 3.919827 1260 6 80910571 80910571 G A intronic BCKDHB NA NA NA intronic ENSG00000083123 NA NA NA NA NA 6q14.1 NA NA NA NA rs9688535 0.06 0.06 0.063 0.0764776 0.0805 0.0119 0.0389 0.1233 0.1022 0.08 0.01 0.05 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903749 NA NA NA NA NA 0.13 NA 3.9195 1260 8 41577121 41577121 C G intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs7823698 0.11 0.11 0.16 0.115216 0.0805 NA 0.085 0.32 0.0143 0.08 NA 0.07 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.454312 NA NA NA NA NA 0.29 NA 3.9195 1260 9 116045272 116045272 G A intronic PRPF4 NA NA NA intronic ENSG00000136875 NA NA NA NA NA 9q32 NA NA NA NA rs16932083 0.07 0.07 0.072 0.086861 0.0805 0.1161 0.0476 0.0076 0.1984 0.07 0.14 0.05 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022773 NA NA NA NA ID=COSN168649;OCCURENCE=1(large_intestine) 0.072 NA 3.9195 1260 9 125075782 125075782 C A intronic MRRF NA NA NA intronic ENSG00000148187 NA NA NA NA NA 9q33.2 NA NA NA NA rs3818711 0.16 0.16 0.171 0.160343 0.0805 0.2232 0.1167 0.2231 0.1237 0.07 0.24 0.12 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941239 NA NA NA NA NA 0.13 NA 3.9195 1260 11 10517039 10517039 C T intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs35753139 0.04 0.04 0.03 0.0241613 0.0805 NA 0.0346 0.003 0.0123 0.08 NA 0.04 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252709 1.252709 NA NA NA NA 0.014 NA 3.9195 1260 13 113731215 113731215 G T intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs2236373 0.11 0.11 0.103 0.096845 0.0805 0.2431 0.0749 0.0303 0.0685 0.07 0.22 0.11 0.04 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121637 NA NA NA NA NA 0.043 NA 3.9195 1260 14 93685167 93685167 T C intronic UBR7 NA NA NA intronic ENSG00000012963 NA NA NA NA NA 14q32.12 NA NA NA NA rs113599144 0.1 0.1 0.083 0.113219 0.0805 0.1002 0.1196 0.1437 0.1145 0.08 0.09 0.1 0.14 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621918 NA NA NA NA NA 0.174 NA 3.9195 1260 16 21279144 21279144 G A intronic CRYM NA NA NA intronic ENSG00000103316 NA NA NA NA NA 16p12.2 NA NA NA NA rs78459225 0.05 0.05 0.047 0.0513179 0.0805 NA 0.0548 0.0635 0.0552 0.09 NA 0.06 0.07 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05601 NA NA NA NA NA 0.094 NA 3.9195 1260 19 51294773 51294773 A G intronic ACPT NA NA NA intronic ENSG00000142513 NA NA NA NA NA 19q13.33 NA NA NA NA rs10412900 0.13 0.13 0.121 0.127596 0.0805 0.126 0.0778 0.2542 0.0419 0.08 0.13 0.1 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035782 NA NA NA NA NA 0.116 NA 3.9195 1260 16 29830829 29830829 T C intronic PAGR1 NA NA NA ncRNA_exonic ENSG00000261690 NA NA NA NA NA 16p11.2 NA NA NA NA rs11864180 0.13 0.13 0.119 0.129193 0.1352 0.0367 0.0893 0.2383 0.0992 0.14 0.04 0.1 0.25 0.13 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586431 NA NA 0.148953 0.241693 NA 0.232 NA 3.9191803 1260 8 15508200 15508200 T C intronic TUSC3 NA NA NA intronic ENSG00000104723 NA NA NA NA NA 8p22 NA NA NA NA rs1035972 0.34 0.34 0.331 0.293131 0.3767 0.4276 0.3386 0.1581 0.2188 0.4 0.42 0.33 0.17 0.338 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.700295 1.700295 NA 0.366395 0.191557 NA 0.268 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081454.3;CLNDSDB=.;CLNDSDBID=. 3.918905 1260 2 128050068 128050068 C T intronic ERCC3 NA NA NA intronic ENSG00000163161 NA NA NA NA NA 2q14.3 NA NA NA NA rs4150403 0.04 0.04 0.047 0.0245607 0.0815 NA 0.0331 0.0053 0.0112 0.09 NA 0.03 0.0041 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484054 NA NA NA NA NA 0.08 NA 3.9185 1260 6 142705070 142705070 G A intronic GPR126 NA NA NA intronic ENSG00000112414 NA NA NA NA NA 6q24.1 NA NA NA NA rs41289839 0.11 0.11 0.091 0.104633 0.0815 0.2619 0.1196 0.0212 0.0685 0.08 0.22 0.15 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.010097 2.010097 NA NA NA NA 0.036 NA 3.9185 1260 10 43285713 43285713 T C intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA rs11239773 0.09 0.09 0.077 0.121605 0.0815 0.0258 0.1585 0.1899 0.1431 0.06 0.02 0.17 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507002 NA NA NA NA NA 0.072 NA 3.9185 1260 17 48735641 48735641 C A intronic ABCC3 NA NA NA intronic ENSG00000108846 NA NA NA NA NA 17q21.33 NA NA NA NA rs72837544 0.04 0.04 0.016 0.0227636 0.0815 NA 0.0288 0.0015 0.0102 0.09 NA 0.04 0.0041 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24854 NA NA NA NA NA 0.022 NA 3.9185 1260 17 73627440 73627440 C T intronic RECQL5 NA NA NA intronic ENSG00000108469 NA NA NA NA NA 17q25.1 NA NA NA NA rs60199317 0.12 0.12 0.139 0.135583 0.0815 0.0456 0.1081 0.3109 0.0665 0.08 0.04 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603159 NA NA NA NA NA 0.109 NA 3.9185 1260 7 100275110 100275110 C G intronic GNB2 NA NA NA intronic ENSG00000172354 NA NA NA NA NA 7q22.1 NA NA NA NA rs78530908 0.01 0.01 0.01 0.00878594 0.0278 0.001 0.0115 NA 0.0072 0.03 0.0017 0.01 0.002 0.0227 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743768 NA NA 0.031047 0.004539 NA NA NA 3.918453 1260 17 6531648 6531648 A G exonic KIAA0753 NA synonymous SNV KIAA0753:NM_014804:exon3:c.T507C:p.S169S exonic ENSG00000198920 NA synonymous SNV ENSG00000198920:ENST00000570790:exon2:c.T507C:p.S169S,ENSG00000198920:ENST00000361413:exon3:c.T507C:p.S169S NA NA 17p13.1 NA NA NA NA rs2072149 0.67 0.67 0.683 0.697085 0.5457 0.7103 0.6801 0.8563 0.636 0.53 0.68 0.67 0.86 0.6255 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05695 NA NA 0.577014 0.809061 NA 0.819 NA 3.9184526 1260 12 863517 863517 G A intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA Name=Pol2 Name=61 NA rs3858703 0.67 0.67 0.653 0.636182 0.7018 0.877 0.6037 0.3903 0.6759 0.71 0.9 0.6 0.38 0.6821 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088052 NA NA 0.697858 0.440628 NA 0.572 NA 3.918242 1260 19 35556357 35556357 C T ncRNA_intronic HPN-AS1 NA NA NA ncRNA_intronic ENSG00000227392 NA NA NA NA NA 19q13.12 NA NA NA NA rs2305747 0.63 0.63 0.638 0.576677 0.7485 0.6538 0.7968 0.3116 0.5225 0.76 0.67 0.75 0.32 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058557 NA NA NA NA NA 0.558 NA 3.9181666 1260 11 133814264 133814264 G A intronic IGSF9B NA NA NA intronic ENSG00000080854 NA NA NA NA NA 11q25 NA NA NA NA rs71477460 0.01 0.01 0.015 0.00998403 0.0328 NA 0.0245 NA NA 0.03 NA 0.02 NA 0.0173 0.032 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093526 NA NA 0.032005 0.00715 NA 0.014 NA 3.917895 1260 22 44489896 44489896 T C exonic PARVB NA synonymous SNV PARVB:NM_001243385:exon2:c.T90C:p.L30L,PARVB:NM_001243386:exon2:c.T45C:p.L15L,PARVB:NM_013327:exon2:c.T201C:p.L67L,PARVB:NM_001003828:exon3:c.T300C:p.L100L exonic ENSG00000188677 NA synonymous SNV ENSG00000188677:ENST00000338758:exon2:c.T201C:p.L67L,ENSG00000188677:ENST00000402876:exon2:c.T201C:p.L67L,ENSG00000188677:ENST00000404989:exon2:c.T90C:p.L30L,ENSG00000188677:ENST00000406477:exon3:c.T300C:p.L100L,ENSG00000188677:ENST00000444029:exon3:c.T195C:p.L65L NA NA 22q13.31 NA NA NA NA rs738479 0.64 0.64 0.632 0.645567 0.5487 0.8462 0.6484 0.6014 0.5961 0.54 0.86 0.6 0.57 0.6185 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.27657 NA NA 0.581628 0.584203 NA 0.558 NA 3.9178386 1260 3 129811323 129811323 G A intronic ALG1L2 NA NA NA ncRNA_intronic ENSG00000248243,ENSG00000251287 NA NA NA NA NA 3q22.1 NA NA NA NA rs11718709 0.3 0.3 0.232 0.297324 0.4155 0.252 0.3847 0.1725 0.3292 0.41 0.22 0.41 0.16 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510171 NA NA NA NA NA 0.362 NA 3.9178333 1260 3 124438329 124438329 C T UTR3 KALRN NM_001024660:c.*12C>T,NM_007064:c.*12C>T NA NA UTR3 ENSG00000160145 ENST00000360013:c.*12C>T,ENST00000354186:c.*12C>T,ENST00000291478:c.*12C>T,ENST00000428018:c.*12C>T NA NA NA NA 3q21.2 NA NA NA NA rs4234221 0.17 0.17 0.169 0.199681 0.1064 0.1429 0.196 0.3094 0.2086 0.1 0.17 0.19 0.28 0.1711 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718833 NA NA 0.138094 0.264748 NA 0.21 NA 3.9177394 1260 2 160050682 160050682 T C intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA NA NA rs75263328 0.04 0.04 0.039 0.029353 0.0825 NA 0.0605 0.0023 0.0194 0.08 NA 0.08 NA NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813873 NA NA NA NA NA 0.036 NA 3.9175 1260 7 97617658 97617658 C G intronic OCM2 NA NA NA intronic ENSG00000135175 NA NA NA NA NA 7q21.3 NA NA NA NA rs13242307 0.07 0.07 0.064 0.096246 0.0825 0.003 0.0836 0.1498 0.1431 0.08 NA 0.09 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59981 NA NA NA NA NA 0.072 NA 3.9175 1260 7 128736596 128736596 G A intergenic TPI1P2,LOC407835 dist=39303;dist=29729 NA NA ncRNA_exonic ENSG00000241573 NA NA NA NA NA 7q32.1 NA NA NA NA rs56155376 0.03 0.03 0.029 0.0327476 0.0825 0.002 0.0389 0.0038 0.0481 0.06 0.0035 0.05 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151295 NA NA NA NA NA 0.036 NA 3.9175 1260 12 54971382 54971382 T C intronic PDE1B NA NA NA intronic ENSG00000123360,ENSG00000135447 NA NA NA NA NA 12q13.2 NA NA NA NA rs112095658 0.03 0.03 0.033 0.0291534 0.0825 0.001 0.049 0.0023 0.0256 0.08 NA 0.04 0.002 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200845 NA NA NA NA NA 0.029 NA 3.9175 1260 12 107914123 107914123 C T intronic BTBD11 NA NA NA intronic ENSG00000151136 NA NA NA NA NA 12q23.3 NA NA NA NA rs7133143 0.09 0.09 0.092 0.0958466 0.0825 0.0516 0.1124 0.1422 0.0808 0.08 0.04 0.09 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505096 NA NA NA NA NA 0.058 NA 3.9175 1260 14 24632481 24632481 G T intronic IRF9 NA NA NA intronic ENSG00000213928,ENSG00000259529 NA NA NA NA NA 14q12 NA NA NA NA rs56212235 0.09 0.09 0.077 0.0904553 0.0825 0.0853 0.062 0.0893 0.1258 0.09 0.12 0.06 0.09 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060016 NA NA NA NA NA 0.094 NA 3.9175 1260 18 43495416 43495416 G T intronic EPG5 NA NA NA intronic ENSG00000152223 NA NA NA NA NA 18q12.3 NA NA NA NA rs7237763 0.07 0.07 0.075 0.0852636 0.0825 0.0268 0.0677 0.1467 0.0777 0.08 0.02 0.06 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112018 NA NA NA NA NA 0.08 NA 3.9175 1260 9 14770580 14770580 G A intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA Name=5 NA rs1874109 0.3 0.3 0.295 0.298922 0.3767 0.3333 0.3141 0.1452 0.3804 0.37 0.33 0.34 0.14 0.3474 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060275 NA NA 0.358534 0.170111 NA 0.355 NA 3.917366 1260 X 2645366 2645366 G C intronic CD99 NA NA NA exonic ENSG00000002586 NA nonsynonymous SNV ENSG00000002586:ENST00000381184:exon9:c.G508C:p.G170R NA NA Xp22.33 NA NA NA NA rs311083 0.66 0.66 0.64388 NA NA NA NA NA NA 0.62 0.49 0.64 0.92 0.6113 0.92 0.39 T . . . . . . 1.000 N . . . . -0.970 T 0.000 T 0.079 -1.062 0.181 0.569 -0.420 0.033 . -1.061796 NA 0 0.638122 0.861872 NA 0.696 NA 3.9172447 1260 19 44130897 44130897 C T intronic CADM4 NA NA NA intronic ENSG00000105767 NA NA NA NA NA 19q13.31 NA NA NA NA rs76003987 0.01 0.01 0.014 0.00958466 0.0338 NA 0.0159 0.0015 0.001 0.03 NA 0.02 0.01 0.0209 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741015 NA NA 0.028075 0.005452 NA 0.007 NA 3.917225 1260 11 49168300 49168300 G A UTR3 FOLH1 NM_001193472:c.*8C>T,NM_001193473:c.*8C>T,NM_001193471:c.*8C>T,NM_001014986:c.*8C>T,NM_004476:c.*8C>T NA NA UTR3 ENSG00000086205 ENST00000256999:c.*8C>T,ENST00000343844:c.*8C>T,ENST00000340334:c.*8C>T,ENST00000525826:c.*1662C>T,ENST00000356696:c.*8C>T NA NA NA NA 11p11.12 NA NA NA NA rs595139 0.17 0.17 0.173 0.172724 0.1342 0.1577 0.1239 0.2943 0.0982 0.14 0.16 0.12 0.27 0.1508 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02241 NA NA 0.131224 0.26806 ID=COSN163931;OCCURENCE=1(NS) 0.174 NA 3.9171094 1260 16 3076663 3076663 C T intronic THOC6 NA NA NA intronic ENSG00000131652 NA NA NA NA NA 16p13.3 NA NA NA NA rs960274 0.1 0.1 0.076 0.0874601 0.0239 0.3383 0.0072 0.0015 0.0675 0.03 0.32 0.01 0.002 0.0447 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.385886 NA NA 0.014302 0.004095 NA 0.014 NA 3.917098 1260 17 79987415 79987415 G C intronic LRRC45 NA NA NA intronic ENSG00000169683 NA NA NA NA NA 17q25.3 NA NA NA NA rs76311640 0.01 0.01 0.008 0.00758786 0.0288 NA 0.0014 0.003 0.0041 0.03 NA NA 0.01 0.03 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273238 NA NA 0.024241 0.005121 NA 0.007 NA 3.916959 1260 4 57194460 57194460 A G UTR3 KIAA1211 NM_020722:c.*490A>G NA NA UTR3 ENSG00000109265 ENST00000504228:c.*490A>G NA NA NA NA 4q12 NA NA NA NA rs6811153 0.27 0.27 0.26 0.273163 0.4165 0.0734 0.2983 0.2474 0.3487 0.42 0.06 0.31 0.25 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76615 NA NA NA NA NA 0.297 NA 3.9168334 1260 17 74222490 74222490 A G intronic RNF157 NA NA NA ncRNA_exonic ENSG00000228218 NA NA NA NA NA 17q25.1 NA NA NA NA rs6501868 0.49 0.49 0.472 0.488019 0.4165 0.4593 0.5029 0.6467 0.3661 0.4 0.48 0.52 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137051 NA NA NA NA NA 0.594 NA 3.9168333 1260 1 16775582 16775582 C T intronic NECAP2 NA NA NA intronic ENSG00000157191 NA NA NA NA NA 1p36.13 NA NA NA NA rs61769455 0.01 0.01 0.009 0.0103834 0.0338 NA 0.0173 0.003 0.002 0.03 NA 0.01 0.002 0.0246 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.234315 2.234315 NA 0.024767 0.003177 NA 0.007 NA 3.916833 1260 2 230231507 230231507 G C intronic DNER NA NA NA intronic ENSG00000187957 NA NA NA NA NA 2q36.3 NA NA NA NA rs74488906 0.05 0.05 0.035 0.0417332 0.0835 0.001 0.0663 0.0408 0.0245 0.08 NA 0.09 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496168 NA NA NA NA NA 0.051 NA 3.9165 1260 3 184103722 184103722 A G intronic CHRD NA NA NA intronic ENSG00000090539,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs79419884 0.15 0.15 0.107 0.144169 0.0835 0.1984 0.2651 0.0787 0.1534 0.07 0.23 0.23 0.1 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090454 NA NA NA NA NA 0.08 NA 3.9165 1260 5 112154571 112154571 G C intronic APC NA NA NA intronic ENSG00000134982 NA NA NA NA NA 5q22.2 NA NA NA NA rs80307314 0.07 0.07 0.065 0.0784744 0.0835 0.001 0.0548 0.1331 0.0961 0.1 NA 0.06 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855396 NA NA NA NA NA 0.043 NA 3.9165 1260 6 62757651 62757651 C A intronic KHDRBS2 NA NA NA intronic ENSG00000112232 NA NA NA NA NA 6q11.1 NA NA NA NA rs76870094 0.06 0.06 0.057 0.0599042 0.0835 0.0387 0.0663 0.0643 0.047 0.08 0.04 0.07 0.04 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456668 NA NA NA NA NA 0.036 NA 3.9165 1260 6 89977332 89977332 G A intronic GABRR2 NA NA NA intronic ENSG00000111886 NA NA NA NA NA 6q15 NA NA NA NA rs61372695 NA NA 0.052 0.0605032 0.0835 0.0347 0.0447 0.0461 0.0941 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.581296 2.581296 NA NA NA NA 0.043 NA 3.9165 1260 9 18681741 18681741 G T intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA NA NA NA rs72688674 0.09 0.09 0.082 0.114217 0.0835 0.0198 0.0692 0.1936 0.1677 0.09 0.02 0.09 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804791 NA NA NA NA NA 0.072 NA 3.9165 1260 15 45357409 45357409 A T intronic SORD NA NA NA intronic ENSG00000140263 NA NA NA NA NA 15q21.1 NA NA NA NA rs28709644 0.03 0.03 NA 0.0285543 0.0835 NA 0.0403 0.0045 0.0256 0.07 NA 0.04 0.01 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053008 NA NA NA NA NA NA NA 3.9165 1260 16 2238931 2238931 G A intronic CASKIN1 NA NA NA intronic ENSG00000167971 NA NA NA NA NA 16p13.3 NA NA NA NA rs11860560 0.1 0.1 0.089 0.0990415 0.0835 0.0486 0.0591 0.2095 0.046 0.08 0.04 0.08 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041394 NA NA NA NA NA 0.08 NA 3.9165 1260 16 28600282 28600282 G T intronic CCDC101 NA NA NA intronic ENSG00000176476 NA NA NA NA NA 16p11.2 NA NA NA NA rs17639997 0.04 0.04 0.036 0.0461262 0.0835 0.003 0.0735 0.0166 0.0726 0.07 0.01 0.09 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509491 NA NA NA NA NA 0.072 NA 3.9165 1260 18 44409581 44409581 C A intronic PIAS2 NA NA NA intronic ENSG00000078043 NA NA NA NA NA 18q21.1 NA NA NA NA rs72907142 0.05 0.05 0.052 0.0427316 0.0835 0.006 0.0447 0.0673 0.0041 0.09 0.01 0.05 0.06 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057659 NA NA NA NA NA 0.138 NA 3.9165 1260 19 39019752 39019752 C T intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs61441471 0.1 0.1 0.094 0.142372 0.0835 0.1925 0.1182 0.0787 0.2546 0.08 0.16 0.11 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381682 NA NA NA NA NA 0.116 NA 3.9165 1260 4 57367809 57367809 G A intronic SRP72 NA NA NA intronic ENSG00000174780 NA NA NA NA NA 4q12 NA NA NA NA rs76774105 0.08 0.08 0.075 0.0666933 0.0169 0.1865 0.0202 0.0333 0.0726 0.02 0.21 0.04 0.04 0.0459 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922417 NA NA 0.02093 0.031775 NA 0.065 NA 3.91627 1260 5 6742588 6742588 A G intronic PAPD7 NA NA NA intronic ENSG00000112941 NA NA NA NA NA 5p15.31 NA NA NA NA rs28381377 0.01 0.01 0.016 0.0163738 0.0288 0.001 0.0159 NA 0.0419 0.03 NA 0.02 NA 0.0267 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551447 NA NA 0.028488 0.005674 NA 0.014 NA 3.916012 1260 10 21120116 21120116 A G intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 NA NA NA NA rs10491056 0.45 0.45 0.471 0.46905 0.3489 0.5278 0.2911 0.6354 0.4335 0.33 0.53 0.35 0.63 0.3893 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.30005 3.30005 NA 0.345814 0.594871 NA 0.442 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038689.1|RCV000127182.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.915986 1260 15 40565055 40565055 G A intronic PAK6 NA NA NA intronic ENSG00000137843,ENSG00000259288 NA NA NA NA NA 15q15.1 NA Name=CTCF_(C-20),CTCF_(SC-5916),CTCF,Rad21,SMC3_(ab9263) Name=19 NA rs2253603 0.46 0.46 0.432 0.454473 0.7078 0.3065 0.7421 0.1203 0.5941 0.7 0.29 0.7 0.13 0.6336 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763871 NA NA 0.743023 0.241943 NA 0.384 NA 3.915577 1260 9 19296275 19296275 G A intronic DENND4C NA NA NA intronic ENSG00000137145 NA NA NA NA NA 9p22.1 NA NA NA NA rs11788720 0.02 0.02 0.012 0.0117812 0.0338 NA 0.0288 0.0015 0.0031 0.03 NA 0.04 NA 0.0203 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382077 NA NA 0.030344 0.007178 NA 0.022 NA 3.915556 1260 20 1617163 1617163 G T intronic SIRPG NA NA NA ncRNA_intronic ENSG00000237914 NA NA NA NA NA 20p13 NA NA NA NA rs41275438 0.07 0.07 0.063 0.0535144 0.1501 0.0188 0.0663 0.0113 0.0378 0.15 0.02 0.08 0.01 0.1126 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721128 NA NA 0.155116 0.036087 NA 0.08 NA 3.9155173 1260 8 67408591 67408591 A G intronic C8orf46 NA NA NA intronic ENSG00000169085 NA NA NA NA NA 8q13.1 NA NA NA NA rs74412410 0.07 0.07 0.079 0.077476 0.0845 NA 0.0836 0.1188 0.09 0.07 NA 0.09 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189473 NA NA NA NA NA 0.101 NA 3.9155 1260 15 74572852 74572852 A G intronic CCDC33 NA NA NA intronic ENSG00000140481 NA NA NA NA NA 15q24.1 NA NA NA NA rs3743217 0.07 0.07 0.056 0.0814696 0.0845 0.0774 0.1311 0.0061 0.1493 0.08 0.07 0.14 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266293 NA NA NA NA NA 0.036 NA 3.9155 1260 2 143790793 143790793 T C intronic KYNU NA NA NA intronic ENSG00000115919 NA NA NA NA NA 2q22.2 NA NA NA NA rs17808482 0.01 0.01 0.009 0.00838658 0.0209 NA 0.0144 0.0023 0.0082 0.03 NA 0.01 0.002 0.0251 0.039 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.907847 1.907847 NA 0.038953 0.006809 NA NA NA 3.915047 1261 6 152717896 152717896 T C intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs78034368 0.01 0.01 0.013 0.014377 0.0239 NA 0.0159 0.0015 0.0358 0.02 NA 0.02 0.002 0.0277 0.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72039 NA NA 0.033605 0.007717 NA 0.007 NA 3.914795 1261 2 170029770 170029770 G A intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs62172586 0.01 0.01 0.009 0.0133786 0.0318 0.0139 0.0043 NA 0.0184 0.03 0.01 0.01 NA 0.0227 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.815364 2.815364 NA 0.030814 0.006355 NA NA NA 3.914686 1261 12 53043663 53043663 A C intronic KRT2 NA NA NA intronic ENSG00000172867 NA NA NA NA NA 12q13.13 NA NA NA NA rs150989489 0.02 0.02 0.009 0.0101837 0.0298 NA 0.0245 NA 0.0041 0.03 NA 0.05 NA 0.0211 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506213 NA NA 0.034419 0.006582 NA 0.007 NA 3.914681 1261 1 201330583 201330583 A G intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA NA NA 1q32.1 NA NA NA NA rs2275861 0.18 0.18 0.151 0.170927 0.0855 0.2976 0.0879 0.2557 0.0726 0.09 0.27 0.09 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514588 NA NA NA NA NA 0.123 NA 3.9145 1261 2 165586693 165586693 T C intronic COBLL1 NA NA NA intronic ENSG00000082438 NA NA NA NA NA 2q24.3 NA NA NA NA rs61553904 0.1 0.1 0.097 0.0978435 0.0855 0.0317 0.0764 0.2057 0.0481 0.09 0.04 0.08 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.795532 NA NA NA NA NA 0.08 NA 3.9145 1261 7 98587990 98587990 A G intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs7808857 0.15 0.15 0.157 0.119409 0.0855 0.249 0.1527 0.0787 0.0521 0.09 0.27 0.16 0.1 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123038 NA NA NA NA NA 0.109 NA 3.9145 1261 8 127504653 127504653 A C intergenic LINC00861,FAM84B dist=541212;dist=60030 NA NA ncRNA_exonic ENSG00000253427 NA NA NA NA NA 8q24.21 NA NA NA NA rs6470446 0.18 0.18 0.177 0.175319 0.0855 0.2758 0.2147 0.1762 0.135 0.08 0.28 0.21 0.19 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46385 NA NA NA NA NA 0.145 NA 3.9145 1261 22 43654477 43654477 C T intronic SCUBE1 NA NA NA intronic ENSG00000159307 NA NA NA NA NA 22q13.2 NA NA NA NA rs9623792 0.12 0.12 0.129 0.123003 0.0855 0.0595 0.0821 0.2436 0.093 0.09 0.06 0.09 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810948 NA NA NA NA NA 0.058 NA 3.9145 1261 7 149523137 149523137 G A intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs62492769 0.16 0.16 0.141 0.142372 0.1352 0.245 0.1311 0.1127 0.092 0.13 0.23 0.12 0.13 0.1423 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.283111 1.283111 NA 0.141525 0.108146 NA 0.174 NA 3.9143083 1261 21 46021205 46021205 C T exonic KRTAP10-7 NA synonymous SNV KRTAP10-7:NM_198689:exon2:c.C669T:p.P223P exonic ENSG00000205441 NA synonymous SNV ENSG00000205441:ENST00000380102:exon1:c.C684T:p.P228P Score=378;Name=lod=46 NA 21q22.3 NA NA NA NA rs389167 0.74 0.74 0.77 0.776558 0.9354 0.8234 0.9135 0.5446 0.7812 0.85 0.73 0.83 0.51 0.8803 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494728 NA NA 0.936744 0.596686 NA 0.014 NA 3.9142226 1261 21 10862947 10862947 G A intergenic TEKT4P2,TPTE dist=894354;dist=43796 NA NA exonic ENSG00000169861 NA synonymous SNV ENSG00000169861:ENST00000302092:exon2:c.G243A:p.Q81Q,ENSG00000169861:ENST00000559480:exon2:c.G243A:p.Q81Q NA NA 21p11.2 NA NA NA NA rs3883944 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5858 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.862136 NA NA NA NA NA 0.572 NA 3.9142 1261 14 106091504 106091504 A G intergenic TMEM121,ELK2AP dist=94965;dist=44410 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon3:c.T390C:p.T130T NA NA 14q32.33 NA NA NA NA rs1042306 0.22 0.22 0.16 0.264177 0.2952 0.5179 0.2061 0.0847 0.2546 0.24 0.32 0.2 0.08 0.2907 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.331613 NA NA NA NA NA 0.159 NA 3.9141 1261 14 23857351 23857351 G A intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs8022522 0.4 0.4 0.433 0.419728 0.3638 0.1548 0.2939 0.7995 0.3262 0.36 0.16 0.33 0.79 0.3563 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299984 NA NA 0.366047 0.714707 ID=COSN164634;OCCURENCE=1(breast) 0.391 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037503.1;CLNDSDB=.;CLNDSDBID=. 3.913853 1261 6 101307131 101307131 C T intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs3734351 0.17 0.17 0.183 0.173323 0.0487 0.3145 0.1282 0.2443 0.092 0.05 0.31 0.13 0.21 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.939268 1.939268 NA 0.037712 0.21315 NA 0.181 NA 3.913588 1261 1 1159485 1159485 C T intronic SDF4 NA NA NA intronic ENSG00000078808 NA NA NA NA NA 1p36.33 NA NA NA NA rs75700266 0.12 0.12 0.109 0.122804 0.0865 0.1577 0.0865 0.1596 0.1002 0.1 0.19 0.07 0.13 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050118 NA NA NA NA NA 0.13 NA 3.9135 1261 5 32053749 32053749 T C intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA NA NA NA rs13165981 0.05 0.05 0.045 0.0379393 0.0865 0.0198 0.0605 0.0166 0.0194 0.08 0.02 0.07 0.02 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83742 NA NA NA NA NA 0.13 NA 3.9135 1261 7 98560213 98560213 T C intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs41635 0.15 0.15 0.155 0.123003 0.0865 0.248 0.1513 0.093 0.0521 0.09 0.27 0.15 0.1 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140466 NA NA NA NA NA 0.109 NA 3.9135 1261 10 102050347 102050347 T C intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA NA NA NA rs2242053 0.23 0.23 0.224 0.263978 0.0865 0.1419 0.1383 0.6362 0.1585 0.1 0.15 0.14 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35142 NA NA NA NA NA 0.181 NA 3.9135 1261 11 124235773 124235773 G A intergenic OR8D2,OR8B2 dist=45680;dist=16525 NA NA ncRNA_exonic ENSG00000227737 NA NA NA NA NA 11q24.2 NA NA NA NA rs35878354 0.04 0.04 0.036 0.0273562 0.0865 NA 0.0432 0.0091 0.0082 0.09 NA 0.04 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080025 NA NA NA NA NA 0.051 NA 3.9135 1261 12 10264994 10264994 G C intergenic CLEC1A,CLEC7A dist=13389;dist=4382 NA NA ncRNA_exonic ENSG00000255734 NA NA NA NA NA 12p13.2 NA NA NA NA rs1532087 0.22 0.22 0.218 0.240815 0.0865 0.129 0.085 0.5938 0.1483 0.09 0.12 0.12 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003204 NA NA NA NA NA 0.384 NA 3.9135 1261 15 100649010 100649010 A T intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs72768102 0.06 0.06 0.063 0.0623003 0.0865 0.0476 0.0591 0.0182 0.1145 0.09 0.05 0.07 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36831 NA NA NA NA NA 0.109 NA 3.9135 1261 16 988222 988222 G T intronic LMF1 NA NA NA intronic ENSG00000103227 NA NA NA NA NA 16p13.3 NA NA NA NA rs117214899 0.05 0.05 0.044 0.0413339 0.0865 NA 0.0461 0.0272 0.0532 0.09 NA 0.06 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412998 NA NA NA NA NA 0.043 NA 3.9135 1261 8 22162271 22162271 T G intronic PIWIL2 NA NA NA intronic ENSG00000197181 NA NA NA NA NA 8p21.3 NA NA NA NA rs75282394 0.02 0.02 0.018 0.0181709 0.0338 0.0169 0.0159 0.0015 0.0276 0.03 0.02 0.01 0.002 0.0274 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.553996 1.553996 NA 0.025349 0.004993 NA 0.022 NA 3.913451 1261 1 89273152 89273152 G T intronic PKN2 NA NA NA intronic ENSG00000065243 NA NA NA NA NA 1p22.2 NA NA NA NA rs11809597 0.06 0.06 0.059 0.0650958 0.0348 NA 0.0245 0.1974 0.0133 0.04 NA 0.03 0.19 0.0336 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065899 NA NA 0.018155 0.173414 NA 0.138 NA 3.913445 1261 9 989943 989943 T C intronic DMRT3 NA NA NA UTR5 ENSG00000064218 ENST00000417254:c.-55T>C NA NA NA NA 9p24.3 NA NA NA NA rs6477419 0.26 0.26 0.241 0.243411 0.2535 0.2867 0.2017 0.2511 0.2076 0.29 0.31 0.22 0.21 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089066 NA NA NA NA NA 0.268 NA 3.9131667 1261 19 43137202 43137202 T C ncRNA_intronic LOC100996307 NA NA NA ncRNA_intronic ENSG00000213904 NA NA NA NA NA 19q13.2 NA NA NA NA rs8107509 0.89 0.89 0.884 0.922324 0.7535 1 0.8617 0.9924 0.9642 0.76 1 0.84 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011243 NA NA NA NA NA 0.935 NA 3.9131666 1261 14 90442211 90442211 A G intronic TDP1 NA NA NA intronic ENSG00000042088 NA NA NA NA NA 14q32.11 NA NA NA NA rs11851399 0.09 0.09 0.092 0.102835 0.0199 0.0079 0.0447 0.323 0.0297 0.02 0.01 0.05 0.3 0.0438 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918733 NA NA 0.02317 0.266014 NA 0.043 NA 3.91313 1261 1 89237078 89237078 A G intronic PKN2 NA NA NA intronic ENSG00000065243 NA NA NA NA NA 1p22.2 NA NA NA NA rs9287139 0.06 0.06 0.064 0.0650958 0.0348 NA 0.0245 0.1974 0.0133 0.04 NA 0.03 0.19 0.0342 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390643 1.390643 NA 0.018072 0.172195 NA 0.138 NA 3.912928 1261 15 71125093 71125093 G A exonic LARP6 NA synonymous SNV LARP6:NM_018357:exon3:c.C774T:p.C258C exonic ENSG00000166173 NA synonymous SNV ENSG00000166173:ENST00000299213:exon3:c.C774T:p.C258C NA NA 15q23 NA NA NA NA rs3825970 0.52 0.52 0.481 0.501597 0.5885 0.503 0.7594 0.3048 0.4939 0.59 0.48 0.72 0.3 0.5672 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740981 NA NA 0.598208 0.358117 ID=COSM1374353;OCCURENCE=1(large_intestine) 0.464 NA 3.9127586 1261 1 6418857 6418857 G A intronic ACOT7 NA NA NA intronic ENSG00000097021 NA NA NA NA NA 1p36.31 NA NA NA NA rs41278934 0.01 0.01 0.015 0.00838658 0.0288 NA 0.0058 0.0008 0.0082 0.03 NA 0.01 NA 0.0245 0.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366374 NA NA 0.033953 0.007263 NA 0.072 NA 3.912747 1261 2 111850427 111850427 T G intronic ACOXL NA NA NA intronic ENSG00000153093 NA NA NA NA NA 2q13 NA NA NA NA rs77311714 0.03 0.03 0.023 0.0644968 0.0219 0.0407 0.036 0.0303 0.1994 0.03 0.04 0.04 0.04 0.0446 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001602 NA NA 0.020814 0.020881 NA 0.036 NA 3.912686 1261 7 139757911 139757911 C G intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs10252898 0.12 0.12 0.126 0.158147 0.0875 0.001 0.0764 0.3782 0.1534 0.09 NA 0.09 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025031 NA NA NA NA NA 0.138 NA 3.9125 1261 13 34404249 34404249 T C intronic RFC3 NA NA NA intronic ENSG00000133119 NA NA NA NA NA 13q13.2 NA NA NA NA rs2274728 0.29 0.29 0.28 0.312899 0.0875 0.3363 0.3429 0.4947 0.2536 0.09 0.36 0.31 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333157 NA NA NA NA NA 0.203 NA 3.9125 1261 17 41059718 41059718 A G intronic G6PC NA NA NA intronic ENSG00000131482 NA NA NA NA NA 17q21.31 NA NA NA NA rs161627 0.12 0.12 0.118 0.144968 0.0875 0.004 0.1455 0.2799 0.1667 0.09 NA 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459563 NA NA NA NA NA 0.196 NA 3.9125 1261 20 13846191 13846191 A G intronic SEL1L2 NA NA NA intronic ENSG00000101251 NA NA NA Score=251;Name=lod=14 NA 20p12.1 NA NA NA NA rs761812 0.35 0.35 0.341 0.342252 0.3757 0.4702 0.2954 0.2148 0.3814 0.36 0.45 0.32 0.22 0.3505 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.73606 1.73606 NA 0.361321 0.227466 NA 0.413 NA 3.912479 1261 9 137017170 137017170 G A intronic WDR5 NA NA NA intronic ENSG00000196363 NA NA NA NA NA 9q34.2 NA NA NA NA rs138223746 0.02 0.02 0.011 0.0107827 0.0308 NA 0.0274 0.0023 0.001 0.03 NA 0.04 0.0041 0.0207 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054228 NA NA 0.036047 0.005447 NA 0.022 NA 3.912453 1261 9 100234545 100234545 G A intronic TDRD7 NA NA NA intronic ENSG00000196116 NA NA NA NA NA 9q22.33 NA NA NA NA rs12002057 0.04 0.04 0.029 0.0507188 0.0258 0.001 0.0216 0.1377 0.0307 0.03 0.0017 0.02 0.11 0.0328 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.71243 3.71243 NA 0.02896 0.104857 NA 0.051 NA 3.91244 1261 12 8377445 8377445 T C UTR5 FAM90A1 NM_018088:c.-17A>G NA NA UTR5 ENSG00000171847 ENST00000307435:c.-17A>G,ENST00000538603:c.-17A>G,ENST00000442295:c.-17A>G NA NA NA NA 12p13.31 NA NA NA NA rs186016880 0.19 0.19 NA 0.21885 0.2097 0.379 0.1873 0.0696 0.2873 0.16 0.36 0.19 0.05 0.2113 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482606 NA NA NA NA NA NA NA 3.9123334 1261 3 193711940 193711940 A G ncRNA_exonic DPPA2P3 NA NA NA ncRNA_intronic ENSG00000214146,ENSG00000238043 NA NA NA NA NA 3q29 NA NA NA NA rs6444762 0.77 0.77 0.752 0.772364 0.7545 0.8442 0.8069 0.6558 0.8497 0.76 0.86 0.8 0.66 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902862 NA NA NA NA NA 0.819 NA 3.9121666 1261 10 45430699 45430699 A G ncRNA_intronic TMEM72-AS1 NA NA NA ncRNA_UTR3 ENSG00000187783 NA NA NA NA NA 10q11.21 NA NA NA NA rs7067692 0.7 0.7 0.734 0.701278 0.7545 0.4663 0.768 0.9145 0.5532 0.74 0.44 0.78 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079668 NA NA NA NA NA 0.754 NA 3.9121666 1261 18 43319060 43319060 T C intronic SLC14A1 NA NA NA ncRNA_intronic ENSG00000267193 NA NA NA NA NA 18q12.3 NA NA NA NA rs473429 0.45 0.45 0.442 0.489617 0.4215 0.4732 0.4107 0.5045 0.6125 0.42 0.48 0.41 0.47 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340247 NA NA NA NA NA 0.413 NA 3.9118333 1261 7 80394449 80394449 T G intronic SEMA3C NA NA NA intronic ENSG00000075223 NA NA NA NA NA 7q21.11 NA NA NA NA rs10085732 0.05 0.05 0.06 0.0652955 0.0239 NA 0.0375 0.171 0.0521 0.02 NA 0.04 0.18 0.0375 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.089416 2.089416 NA 0.026977 0.147072 NA 0.051 NA 3.911623 1261 5 64865848 64865848 A G intronic PPWD1 NA NA NA intronic ENSG00000113593 NA NA NA NA NA 5q12.3 NA NA NA NA rs3752674 0.06 0.06 0.055 0.0790735 0.0209 0.0893 0.0418 0.1112 0.1115 0.02 0.08 0.04 0.12 0.0465 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.00095 2.00095 NA 0.021081 0.101738 NA 0.043 NA 3.911519 1261 1 158985831 158985831 C T intronic IFI16 NA NA NA intronic ENSG00000163565 NA NA NA NA NA 1q23.1 NA NA NA NA rs66519738 0.05 0.05 0.037 0.047524 0.0885 NA 0.0706 0.028 0.0644 0.09 NA 0.07 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356064 NA NA NA NA NA 0.152 NA 3.9115 1261 1 167849658 167849658 C G intronic ADCY10 NA NA NA intronic ENSG00000143199 NA NA NA NA NA 1q24.2 NA NA NA NA rs76779157 0.06 0.06 0.05 0.0517173 0.0885 NA 0.0692 0.0794 0.0174 0.08 NA 0.08 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491138 1.491138 NA NA NA NA 0.058 NA 3.9115 1261 5 52369193 52369193 A G intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3815755 0.1 0.1 0.122 0.104233 0.0885 0.0317 0.0663 0.2035 0.0879 0.09 0.03 0.06 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932521 NA NA NA NA NA 0.109 NA 3.9115 1261 5 128448422 128448422 G T intronic ISOC1 NA NA NA intronic ENSG00000066583 NA NA NA NA NA 5q23.3 NA NA NA NA rs3798121 0.16 0.16 0.143 0.18131 0.0885 0.1726 0.1196 0.2912 0.181 0.07 0.18 0.13 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864732 NA NA NA NA NA 0.181 NA 3.9115 1261 5 147491218 147491218 A G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2287770 0.19 0.19 0.195 0.22504 0.0885 0.3105 0.0778 0.292 0.2914 0.09 0.31 0.08 0.28 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3756 NA NA NA NA NA 0.174 NA 3.9115 1261 5 147491552 147491552 A G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2287767 0.19 0.19 0.202 0.22504 0.0885 0.3105 0.0778 0.292 0.2914 0.09 0.31 0.08 0.28 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583179 NA NA NA NA NA 0.174 NA 3.9115 1261 6 117730899 117730899 T G intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs2243375 0.06 0.06 0.048 0.0497204 0.0885 0.0437 0.0807 0.003 0.0573 0.1 0.04 0.07 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20338 NA NA NA NA NA 0.101 NA 3.9115 1261 10 129917670 129917670 A G intronic MKI67 NA NA NA intronic ENSG00000148773 NA NA NA NA NA 10q26.2 NA NA NA NA rs41282878 0.04 0.04 0.025 0.0399361 0.0885 NA 0.0533 0.0015 0.0736 0.08 0.0017 0.05 0.0041 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369747 NA NA NA NA NA 0.051 NA 3.9115 1261 12 133428181 133428181 C T intronic CHFR NA NA NA intronic ENSG00000072609 NA NA NA NA NA 12q24.33 NA NA NA NA rs76946232 0.03 0.03 0.012 0.0211661 0.0348 NA 0.062 0.003 0.0245 0.04 0.0017 0.07 0.002 0.0306 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168204 NA NA 0.023538 0.005007 NA 0.007 NA 3.911062 1261 2 113999736 113999736 G T ncRNA_intronic LOC654433 NA NA NA ncRNA_intronic ENSG00000189223 NA NA NA NA NA 2q13 NA NA NA NA rs13015478 0.24 0.24 0.216 0.251797 0.2485 0.1468 0.3112 0.2746 0.2904 0.24 0.15 0.33 0.3 0.2608 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.964432 1.964432 NA 0.246433 0.261416 NA 0.232 NA 3.9109336 1261 3 48626745 48626745 C T intronic COL7A1 NA NA NA intronic ENSG00000114270 NA NA NA NA NA 3p21.31 NA NA NA NA rs144483183 0.01 0.01 0.012 0.0101837 0.0318 NA 0.0173 0.0008 0.0061 0.03 NA 0.02 NA 0.0207 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899116 NA NA 0.036628 0.00749 NA 0.007 NA 3.910872 1261 8 144124512 144124512 T C intronic C8orf31 NA NA NA intronic ENSG00000177335 NA NA NA NA NA 8q24.3 NA NA Name=34 NA rs11136299 0.38 0.38 0.371 0.388578 0.3628 0.4177 0.33 0.4826 0.2996 0.36 0.38 0.35 0.44 0.3641 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560762 NA NA 0.362558 0.477077 NA 0.399 NA 3.910542 1261 1 167865740 167865740 G A intronic ADCY10 NA NA NA intronic ENSG00000143199 NA NA NA NA NA 1q24.2 NA NA NA NA rs57419373 0.06 0.06 0.05 0.0455272 0.0895 NA 0.0677 0.056 0.0174 0.08 NA 0.08 0.06 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38903 NA NA NA NA NA 0.051 NA 3.9105 1261 2 96241051 96241051 G A intergenic TRIM43B,TRIM43 dist=90572;dist=16715 NA NA ncRNA_exonic ENSG00000232717 NA NA NA NA NA 2q11.1 NA NA NA NA rs1974909 0.13 0.13 0.096 0.139776 0.0895 0.1369 0.1311 0.23 0.0787 0.09 0.11 0.11 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341539 NA NA NA NA NA 0.181 NA 3.9105 1261 4 79308446 79308446 T C intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs10016220 0.13 0.13 0.158 0.13738 0.0895 0.0556 0.0605 0.2852 0.1258 0.1 0.06 0.07 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246029 NA NA NA NA NA 0.188 NA 3.9105 1261 5 52368594 52368594 C T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3212586 0.1 0.1 0.113 0.0964457 0.0895 0.0258 0.0663 0.2027 0.0542 0.09 0.03 0.06 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099597 NA NA NA NA NA 0.087 NA 3.9105 1261 6 36945746 36945746 A G intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs79238769 0.11 0.11 0.096 0.134185 0.0895 0.0327 0.1124 0.2269 0.1748 0.08 0.04 0.11 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684463 NA NA NA NA NA 0.138 NA 3.9105 1261 6 36945754 36945754 A G intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs77649624 0.11 0.11 0.092 0.134185 0.0895 0.0327 0.1124 0.2269 0.1748 0.08 0.04 0.11 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666634 NA NA NA NA NA 0.138 NA 3.9105 1261 6 36945781 36945781 C T intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs16889347 0.11 0.11 0.095 0.134185 0.0895 0.0327 0.1124 0.2269 0.1748 0.08 0.04 0.11 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778805 NA NA NA NA NA 0.13 NA 3.9105 1261 11 73073846 73073846 G A intronic ARHGEF17 NA NA NA intronic ENSG00000110237 NA NA NA NA NA 11q13.4 NA NA NA NA rs75912489 0.04 0.04 0.038 0.047524 0.0895 0.0099 0.0403 0.0265 0.0767 0.09 0.01 0.02 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152506 NA NA NA NA NA 0.08 NA 3.9105 1261 12 132529649 132529649 T C intronic EP400 NA NA NA intronic ENSG00000183495 NA NA NA NA NA 12q24.33 NA NA NA NA rs6598192 0.05 0.05 0.051 0.0399361 0.0895 0.001 0.049 0.0318 0.0337 0.08 NA 0.05 0.04 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117272 NA NA NA NA NA 0.08 NA 3.9105 1261 12 133351030 133351030 G A intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs7313064 0.24 0.24 0.209 0.198882 0.0895 0.4425 0.2305 0.1732 0.0726 0.1 0.46 0.24 0.2 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813684 NA NA NA NA NA 0.152 NA 3.9105 1261 13 39420923 39420923 T G intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs9548503 0.09 0.09 0.077 0.109625 0.0895 0.001 0.2522 0.1445 0.0941 0.07 0.0017 0.2 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501524 NA NA NA NA NA 0.087 NA 3.9105 1261 13 39420971 39420971 A G intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs9548504 0.09 0.09 0.075 0.109824 0.0895 0.001 0.2522 0.1452 0.0941 0.07 0.0017 0.2 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251934 NA NA NA NA NA 0.087 NA 3.9105 1261 21 46276343 46276343 C T intronic PTTG1IP NA NA NA intronic ENSG00000183255 NA NA NA NA NA 21q22.3 NA NA NA NA rs35432315 0.07 0.07 0.075 0.066893 0.0895 0.0685 0.0447 0.0522 0.0777 0.09 0.07 0.05 0.05 NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181119 NA NA NA NA NA 0.152 NA 3.9105 1261 14 20873795 20873795 A G intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs111482622 0.02 0.02 0.016 0.0201677 0.0298 NA 0.0231 0.0265 0.0204 0.03 NA 0.02 0.01 0.0268 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724206 NA NA 0.033023 0.028143 NA NA NA 3.910377 1261 18 46383898 46383898 T C intronic CTIF NA NA NA intronic ENSG00000134030 NA NA NA NA NA 18q21.1 NA NA NA NA rs937022 0.1 0.1 0.097 0.165136 0.0457 0.0099 0.0533 0.3714 0.2485 0.04 NA 0.06 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068611 NA NA 0.043997 0.302023 NA 0.145 NA 3.910303 1261 2 214160897 214160897 C G intronic SPAG16 NA NA NA intronic ENSG00000144451 NA NA NA NA NA 2q34 NA NA NA NA rs74502509 0.02 0.02 0.014 0.013778 0.0457 NA 0.0173 0.0008 0.0102 0.06 NA 0.02 0.002 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304752 NA NA 0.044099 0.008671 NA 0.014 NA 3.910201 1261 5 13883262 13883262 C G intronic DNAH5 NA NA NA ncRNA_intronic ENSG00000251423 NA NA NA NA NA 5p15.2 NA NA NA NA rs10462710 0.5 0.5 0.488 0.44389 0.4235 0.7232 0.438 0.3313 0.3333 0.44 0.74 0.45 0.34 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450444 NA NA NA NA NA 0.391 NA 3.9098333 1261 11 67201008 67201008 C T intronic RPS6KB2 NA NA NA ncRNA_intronic ENSG00000255949 NA NA NA NA NA 11q13.2 NA NA NA NA rs1790753 0.5 0.5 0.497 0.486821 0.4235 0.3264 0.5692 0.8071 0.226 0.44 0.32 0.54 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117824 NA NA NA NA NA 0.58 NA 3.9098333 1261 14 106090846 106090846 T C intergenic TMEM121,ELK2AP dist=94307;dist=45068 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon4:c.A951G:p.T317T NA NA 14q32.33 NA NA NA NA rs8011686 0.25 0.25 0.193 0.262181 0.3002 0.5308 0.2046 0.0567 0.2648 0.3 0.35 0.23 0.08 0.29 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587005 NA NA NA NA NA NA NA 3.9098 1261 2 10045014 10045014 C T exonic TAF1B NA synonymous SNV TAF1B:NM_005680:exon9:c.C834T:p.Y278Y exonic ENSG00000115750 NA synonymous SNV ENSG00000115750:ENST00000263663:exon9:c.C834T:p.Y278Y,ENSG00000115750:ENST00000396242:exon9:c.C69T:p.Y23Y NA NA 2p25.1 Score=915;Name=V$TATA_C NA NA NA rs400917 0.86 0.86 0.859 0.819688 0.9324 0.8294 0.9424 0.6566 0.8272 0.94 0.82 0.93 0.73 0.8918 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639417 NA NA 0.932791 0.6936 NA 0.797 NA 3.9096756 1261 2 44101229 44101229 A G intronic ABCG8 NA NA NA intronic ENSG00000143921 NA NA NA NA NA 2p21 NA NA NA NA rs34198326 0.09 0.09 0.075 0.0892572 0.0905 0.0238 0.111 0.1286 0.0869 0.08 0.03 0.13 0.12 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518962 NA NA NA NA NA 0.188 NA 3.9095 1261 2 103121654 103121654 G A intronic SLC9A4 NA NA NA intronic ENSG00000180251 NA NA NA NA NA 2q12.1 NA NA NA NA rs72825956 0.11 0.11 0.094 0.107228 0.0905 0.1905 0.0865 0.053 0.1268 0.09 0.18 0.1 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19268 NA NA NA NA NA 0.087 NA 3.9095 1261 3 33768909 33768909 A G intergenic CLASP2,PDCD6IP dist=9204;dist=71154 NA NA ncRNA_exonic ENSG00000228112 NA NA NA NA NA 3p22.3 NA NA NA NA rs73055665 0.04 0.04 0.043 0.0295527 0.0905 0.002 0.0432 0.0045 0.0194 0.08 0.0035 0.06 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732631 NA NA NA NA NA 0.08 NA 3.9095 1261 4 17819135 17819135 T A intronic NCAPG NA NA NA intronic ENSG00000109805 NA NA NA NA NA 4p15.31 NA NA NA NA rs2302211 0.1 0.1 0.072 0.142572 0.0905 0.1617 0.1167 0.0877 0.2689 0.09 0.12 0.12 0.09 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358582 NA NA NA NA NA 0.138 NA 3.9095 1261 7 131864379 131864379 A G intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA NA NA rs57665981 0.18 0.18 0.179 0.184305 0.0905 0.0536 0.1037 0.5061 0.0378 0.08 0.06 0.1 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579105 NA 0 NA NA NA 0.138 NA 3.9095 1261 14 95918513 95918513 G A intronic SYNE3 NA NA NA intronic ENSG00000176438 NA NA NA NA NA 14q32.13 NA NA NA NA rs6575514 0.05 0.05 0.05 0.0551118 0.0905 0.002 0.0677 0.0197 0.1125 0.09 0.0017 0.09 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463564 NA NA NA NA NA 0.123 NA 3.9095 1261 11 118896115 118896115 A G intronic SLC37A4 NA NA NA UTR3 ENSG00000196655 ENST00000533058:c.*356A>G NA NA NA NA 11q23.3 NA NA NA NA rs2276072 0.15 0.15 0.126 0.185903 0.2575 0.0843 0.2104 0.087 0.3333 0.22 0.05 0.21 0.1 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.61609 NA NA NA NA NA NA NA 3.9091667 1261 11 118896116 118896116 A C intronic SLC37A4 NA NA NA UTR3 ENSG00000196655 ENST00000533058:c.*357A>C NA NA NA NA 11q23.3 NA NA NA NA rs2276071 0.15 0.15 0.123 0.185903 0.2575 0.0843 0.2104 0.087 0.3333 0.22 0.05 0.21 0.1 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.485848 NA NA NA NA NA NA NA 3.9091667 1261 4 47560386 47560386 C T intronic ATP10D NA NA NA ncRNA_intronic ENSG00000248254 NA NA NA NA NA 4p12 NA NA NA NA rs4298115 0.36 0.36 0.319 0.33147 0.4245 0.2073 0.3991 0.3011 0.3569 0.44 0.22 0.44 0.33 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183837 NA NA NA NA NA 0.464 NA 3.9088333 1261 12 117476896 117476896 C A UTR3 TESC NM_017899:c.*42G>T,NM_001168325:c.*42G>T NA NA UTR3 ENSG00000088992 ENST00000470612:c.*200G>T,ENST00000335209:c.*42G>T,ENST00000541210:c.*42G>T,ENST00000392545:c.*42G>T,ENST00000549210:c.*42G>T NA NA NA NA 12q24.22 NA NA NA NA rs9308 0.13 0.13 0.131 0.132987 0.1581 0.0357 0.0764 0.2247 0.1237 0.16 0.03 0.09 0.24 0.139 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962166 NA NA 0.127667 0.190341 NA 0.087 NA 3.9085664 1261 1 13172503 13172503 C T intergenic PRAMEF5,LOC440563 dist=54752;dist=10457 NA NA ncRNA_intronic ENSG00000236179 NA NA NA NA NA 1p36.21 NA NA NA NA rs61780789 0.11 0.11 0.107 0.167732 0.0915 0.0546 0.0735 0.267 0.2955 0.09 0.04 0.07 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59481 NA NA NA NA NA 0.138 NA 3.9085 1261 1 150634472 150634472 A G intronic GOLPH3L NA NA NA intronic ENSG00000143457 NA NA NA NA NA 1q21.3 NA NA NA NA rs3754207 0.08 0.08 0.087 0.0790735 0.0915 0.1736 0.0476 0.003 0.0941 0.08 0.19 0.04 NA NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.513154 2.513154 NA NA NA NA 0.065 NA 3.9085 1261 1 150727394 150727394 G A intronic CTSS NA NA NA intronic ENSG00000163131 NA NA NA NA NA 1q21.3 NA NA NA NA rs11576175 0.09 0.09 0.08 0.0792732 0.0915 0.1726 0.049 0.003 0.0951 0.08 0.19 0.04 NA NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.974745 1.974745 NA NA NA NA 0.065 NA 3.9085 1261 4 69682509 69682509 A G intronic UGT2B10 NA NA NA intronic ENSG00000109181 NA NA NA NA NA 4q13.2 NA NA NA NA rs113475342 0.05 0.05 0.047 0.04373 0.0915 0.001 0.072 0.0348 0.0307 0.1 NA 0.07 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079428 NA NA NA NA NA 0.123 NA 3.9085 1261 5 32071381 32071381 G C intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA NA NA NA rs72761544 0.12 0.12 0.095 0.126797 0.0915 0.2262 0.1182 0.0318 0.1953 0.1 0.24 0.09 0.03 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827556 NA NA NA NA NA 0.116 NA 3.9085 1261 5 125906344 125906344 T C intronic ALDH7A1 NA NA NA intronic ENSG00000164904 NA NA NA NA NA 5q23.2 NA NA NA NA rs6897789 0.2 0.2 0.219 0.197085 0.0915 0.1518 0.0807 0.4758 0.0583 0.08 0.15 0.09 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415144 NA NA NA NA NA 0.312 NA 3.9085 1261 7 75190477 75190477 C T intronic HIP1 NA NA NA intronic ENSG00000127946 NA NA NA NA NA 7q11.23 NA NA NA NA rs3757604 0.09 0.09 0.074 0.0900559 0.0915 0.0913 0.0793 0.0809 0.1074 0.08 0.1 0.1 0.08 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71652 NA NA NA NA NA 0.058 NA 3.9085 1261 8 12600606 12600606 T A intronic LONRF1 NA NA NA intronic ENSG00000154359 NA NA NA NA NA 8p23.1 NA NA NA NA rs73202645 0.04 0.04 0.036 0.0351438 0.0915 0.004 0.0605 0.0045 0.0327 0.08 0.0017 0.06 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920861 NA NA NA NA NA 0.123 NA 3.9085 1261 9 33060410 33060410 T A intronic SMU1 NA NA NA intronic ENSG00000122692 NA NA NA NA NA 9p21.1 NA NA NA NA rs41305659 0.04 0.04 0.038 0.0283546 0.0915 0.001 0.0432 0.0038 0.0143 0.09 0.0017 0.05 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070238 NA NA NA NA NA 0.036 NA 3.9085 1261 9 91977443 91977443 C G intronic SEMA4D NA NA NA intronic ENSG00000187764 NA NA NA NA NA 9q22.2 NA NA NA NA rs45440499 0.04 0.04 0.041 0.0443291 0.0915 NA 0.0418 0.003 0.0992 0.09 NA 0.04 0.01 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80632 NA NA NA NA NA 0.058 NA 3.9085 1261 11 72004714 72004714 T C intronic CLPB NA NA NA intronic ENSG00000162129 NA NA NA NA NA 11q13.4 NA NA NA NA rs680660 0.19 0.19 0.185 0.213259 0.0915 0.2192 0.1311 0.4501 0.0706 0.08 0.2 0.14 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.794497 NA NA NA NA NA 0.196 NA 3.9085 1261 11 73066771 73066771 G A intronic ARHGEF17 NA NA NA intronic ENSG00000110237 NA NA NA NA NA 11q13.4 NA NA NA NA rs112840535 0.05 0.05 0.041 0.0483227 0.0915 0.0099 0.0418 0.0272 0.0767 0.09 0.01 0.03 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.573678 NA NA NA NA NA 0.08 NA 3.9085 1261 13 110831866 110831866 T C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs10492497 0.1 0.1 0.086 0.0876597 0.0915 0.1131 0.0735 0.0855 0.0706 0.09 0.13 0.08 0.07 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536636 NA NA NA NA NA 0.094 NA 3.9085 1261 15 90347920 90347920 G A intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs41276920 0.05 0.05 0.041 0.0405351 0.0915 0.001 0.0389 0.0287 0.046 0.09 0.0035 0.03 0.04 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427319 NA NA NA NA NA 0.094 NA 3.9085 1261 17 45096867 45096867 A G intergenic RPRML,CDC27 dist=40253;dist=98444 NA NA ncRNA_exonic ENSG00000263142 NA NA NA NA NA 17q21.32 NA NA NA NA rs55858176 0.08 0.08 0.049 0.109225 0.0915 0.1468 0.1052 0.0076 0.229 0.08 0.13 0.07 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071193 NA NA NA NA ID=COSN165443;OCCURENCE=1(breast) 0.043 NA 3.9085 1261 11 6591380 6591380 G C intronic DNHD1 NA NA NA intronic ENSG00000179532 NA NA NA NA NA 11p15.4 NA NA NA NA rs7942310 0.11 0.11 0.118 0.125998 0.0239 NA 0.0504 0.4304 0.0031 0.02 NA 0.05 0.42 0.0475 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.194516 NA NA 0.020169 0.324927 NA 0.13 NA 3.908431 1261 10 3147192 3147192 G A intronic PFKP NA NA NA UTR5 ENSG00000067057 ENST00000415005:c.-143G>A NA NA NA NA 10p15.2 NA NA NA NA rs4256893 0.34 0.34 0.327 0.346046 0.2584 0.5397 0.3199 0.2716 0.3558 0.25 0.57 0.26 0.26 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494118 NA NA NA NA NA 0.203 NA 3.9082667 1261 15 80762804 80762804 C G intronic ARNT2 NA NA NA intronic ENSG00000172379 NA NA NA NA NA 15q25.1 NA NA NA NA rs8033507 0.15 0.15 0.158 0.182708 0.0129 0.1518 0.0692 0.4221 0.1462 0.01 0.18 0.06 0.4 0.0711 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267927 NA NA 0.008372 0.358602 NA 0.181 NA 3.907628 1261 1 150956947 150956947 C T intronic ANXA9 NA NA NA intronic ENSG00000143412 NA NA NA NA NA 1q21.3 NA NA NA NA rs2305815 0.08 0.08 0.06 0.0786741 0.0924 0.1617 0.0548 0.003 0.0982 0.08 0.17 0.05 0.002 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639082 NA NA NA NA NA 0.065 NA 3.9076 1261 2 101564628 101564628 A C intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 NA NA NA NA rs10207725 NA NA NA 0.178115 0.0924 0.4097 0.3329 0.028 0.1207 NA NA NA NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695358 NA NA NA NA NA 0.138 NA 3.9076 1261 3 75397013 75397013 C T intergenic MIR4444-1,FAM86DP dist=133314;dist=73690 NA NA ncRNA_exonic ENSG00000243674 NA NA NA NA NA 3p12.3 NA NA NA NA rs6762507 0.15 0.15 0.159 0.194888 0.0924 0.0476 0.1009 0.4259 0.2065 0.09 0.06 0.11 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536258 NA NA NA NA NA 0.08 NA 3.9076 1261 7 148947698 148947698 A G intronic ZNF212 NA NA NA intronic ENSG00000170260 NA NA NA NA NA 7q36.1 NA NA NA NA rs4725801 0.15 0.15 0.099 0.155751 0.0924 0.247 0.268 0.0045 0.2515 0.1 0.26 0.24 0.0041 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031066 NA NA NA NA NA 0.13 NA 3.9076 1261 8 2043982 2043982 C T intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs79549508 0.08 0.08 0.075 0.0626997 0.0924 0.0823 0.0677 0.0522 0.0225 0.09 0.1 0.09 0.04 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853431 NA NA NA NA NA 0.022 NA 3.9076 1261 11 48968045 48968045 G A intergenic OR4A47,TRIM49B dist=456771;dist=85107 NA NA ncRNA_intronic ENSG00000249910 NA NA NA NA NA 11p11.12 NA NA NA NA rs1857789 0.08 0.08 0.058 0.114018 0.0924 0.2143 0.0793 0.0038 0.2065 0.09 0.14 0.07 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.007565 NA NA NA NA NA NA NA 3.9076 1261 13 113474348 113474348 C T intronic ATP11A NA NA NA intronic ENSG00000068650 NA NA NA NA NA 13q34 NA NA NA NA rs9603957 0.1 0.1 0.107 0.103235 0.0924 0.0417 0.0576 0.1974 0.0828 0.09 0.04 0.07 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486977 NA NA NA NA NA 0.08 NA 3.9076 1261 16 1004757 1004757 C T intronic LMF1 NA NA NA intronic ENSG00000103227 NA NA NA NA NA 16p13.3 NA NA NA NA rs113750251 0.06 0.06 0.048 0.0736821 0.0924 0.0367 0.0576 0.025 0.1697 0.09 0.03 0.07 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.202481 NA NA NA NA NA 0.058 NA 3.9076 1261 21 47845942 47845942 T C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2330436 0.16 0.16 0.151 0.178514 0.0924 0.004 0.0937 0.4871 0.09 0.09 0.0035 0.1 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118545 NA NA NA NA NA 0.196 NA 3.9076 1261 21 37092980 37092980 G A upstream MIR802 NA NA NA ncRNA_intronic ENSG00000230794 NA NA NA NA NA 21q22.12 NA NA Name=4 NA rs9981293 0.36 0.36 0.343 0.348243 0.4145 0.495 0.3646 0.0658 0.499 0.41 0.5 0.39 0.09 0.4155 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.809119 NA NA 0.42909 0.129783 NA 0.377 NA 3.9075766 1261 1 24859767 24859767 A C intronic RCAN3 NA NA NA intronic ENSG00000117602 NA NA NA NA NA 1p36.11 NA NA NA NA rs12061734 0.13 0.13 NA 0.157348 0.0278 0.0169 0.0576 0.4955 0.0491 0.02 0.01 0.07 0.49 0.0649 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034674 NA NA NA NA NA 0.152 NA 3.9073 1261 14 101406022 101406022 T A downstream SNORD113-6 NA NA NA ncRNA_intronic ENSG00000225746 NA NA NA NA NA 14q32.31 NA NA NA NA rs1951025 0.14 0.14 0.127 0.110623 0.2594 0.0645 0.1412 0.0121 0.1166 0.25 0.07 0.17 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028038 NA NA NA NA NA 0.232 NA 3.9072666 1261 18 61602495 61602495 C T downstream SERPINB10 NA NA NA UTR3 ENSG00000242550 ENST00000238508:c.*19C>T NA NA NA NA 18q22.1 NA NA NA NA rs17072209 0.12 0.12 0.112 0.117812 0.0249 0.1935 0.0648 0.1944 0.0695 0.03 0.2 0.06 0.21 0.0547 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695643 NA NA 0.013143 0.162807 NA 0.123 NA 3.907257 1261 19 52825235 52825235 A G exonic ZNF480 NA synonymous SNV ZNF480:NM_144684:exon5:c.A732G:p.S244S exonic ENSG00000198464 NA synonymous SNV ENSG00000198464:ENST00000335090:exon3:c.A501G:p.S167S,ENSG00000198464:ENST00000334564:exon4:c.A603G:p.S201S,ENSG00000198464:ENST00000468240:exon5:c.A732G:p.S244S,ENSG00000198464:ENST00000595962:exon5:c.A732G:p.S244S NA NA 19q13.41 NA NA NA NA rs8102373 0.53 0.53 0.507 0.526358 0.6123 0.3998 0.5101 0.5371 0.5654 0.62 0.4 0.53 0.53 0.5615 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462032 NA NA 0.585698 0.526555 NA 0.536 NA 3.9071686 1261 19 51500901 51500901 C T intronic KLK8 NA NA NA ncRNA_intronic ENSG00000267879 NA NA NA NA NA 19q13.41 NA NA NA NA rs1654539 0.43 0.43 0.424 0.427516 0.4264 0.2411 0.4813 0.6422 0.2924 0.43 0.26 0.49 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001435 NA NA NA NA NA 0.522 NA 3.9069333 1261 1 15772057 15772057 G T intronic CTRC NA NA NA intronic ENSG00000162438 NA NA NA NA NA 1p36.21 NA NA Name=3 NA rs10927786 0.35 0.35 0.346 0.357628 0.3648 0.25 0.3602 0.416 0.3804 0.37 0.28 0.36 0.42 0.3655 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14778 NA NA 0.362779 0.386291 NA 0.297 NA 3.906921 1261 3 47276968 47276968 C T ncRNA_intronic KIF9-AS1 NA NA NA ncRNA_intronic ENSG00000227398 NA NA NA NA NA 3p21.31 NA NA Name=53 NA rs2276854 0.57 0.57 0.548 0.562899 0.5994 0.5357 0.5562 0.5356 0.5951 0.6 0.53 0.57 0.55 0.574 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621469 NA NA 0.586628 0.537676 NA 0.623 NA 3.9066386 1261 7 97946450 97946450 C A intronic BAIAP2L1 NA NA NA intronic ENSG00000006453 NA NA NA NA NA 7q21.3 NA NA NA NA rs1631779 0.1 0.1 0.111 0.144569 0.0934 0.0456 0.0865 0.2042 0.2597 0.1 0.04 0.1 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472263 NA NA NA NA NA 0.196 NA 3.9066 1261 9 131599311 131599311 G A intronic CCBL1 NA NA NA intronic ENSG00000171097 NA NA NA NA NA 9q34.11 NA NA NA NA rs2997903 0.1 0.1 0.081 0.0878594 0.0934 0.0933 0.0648 0.093 0.0859 0.09 0.11 0.08 0.1 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075183 NA NA NA NA NA 0.094 NA 3.9066 1261 21 47766004 47766004 T G intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839216 0.11 0.11 0.132 0.14996 0.0249 0.004 0.0591 0.4516 0.0859 0.02 0.0017 0.06 0.43 0.055 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.219841 NA NA 0.013721 0.376305 NA 0.145 NA 3.906379 1261 10 66586374 66586374 G A ncRNA_exonic ANXA2P3 NA NA NA downstream ENSG00000216740 NA NA NA NA NA 10q21.3 NA NA NA NA rs16920432 0.28 0.28 0.254 0.260783 0.2604 0.4712 0.2939 0.062 0.2894 0.27 0.5 0.22 0.08 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282907 NA NA NA NA NA 0.181 NA 3.9062666 1261 13 30784437 30784437 A G intronic KATNAL1 NA NA NA intronic ENSG00000102781 NA NA NA NA NA 13q12.3 NA NA NA NA rs75470540 0.02 0.02 0.013 0.0107827 0.0328 NA 0.0216 0.0023 0.0031 0.03 NA 0.02 0.002 0.0241 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637884 1.637884 NA 0.036977 0.008852 NA NA NA 3.906123 1261 8 70772088 70772088 T C intergenic SLCO5A1,PRDM14 dist=24789;dist=191798 NA NA ncRNA_exonic ENSG00000255107 NA NA NA NA NA 8q13.3 NA NA NA NA rs16936497 0.14 0.14 0.144 0.157149 0.0944 0.003 0.0879 0.4387 0.0491 0.09 0.0017 0.1 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603635 NA NA NA NA NA 0.145 NA 3.9056 1261 1 160091136 160091136 T C intronic ATP1A2 NA NA NA intronic ENSG00000018625 NA NA NA NA NA 1q23.2 NA NA NA NA rs17846705 0.07 0.07 0.05 0.0628994 0.0944 0.0595 0.1138 0.0053 0.0757 0.1 0.05 0.11 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79197 NA NA NA NA NA 0.138 NA 3.9056 1261 2 43735713 43735713 C T intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA NA NA 2p21 NA NA NA NA rs6761129 0.15 0.15 0.165 0.16893 0.0944 0.006 0.1081 0.4032 0.1401 0.09 0.01 0.12 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304895 NA NA NA NA NA 0.203 NA 3.9056 1261 9 19352260 19352260 A T intronic DENND4C NA NA NA intronic ENSG00000137145 NA NA NA NA NA 9p22.1 NA NA NA NA rs10114039 0.16 0.16 0.188 0.21246 0.0944 0.0169 0.1254 0.5197 0.182 0.08 0.02 0.11 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020026 NA NA NA NA NA 0.275 NA 3.9056 1261 15 60734697 60734697 A G exonic NARG2 NA synonymous SNV NARG2:NM_001018089:exon12:c.T1932C:p.Y644Y,NARG2:NM_024611:exon12:c.T2343C:p.Y781Y exonic ENSG00000128915 NA synonymous SNV ENSG00000128915:ENST00000261520:exon12:c.T2343C:p.Y781Y,ENSG00000128915:ENST00000439632:exon12:c.T1932C:p.Y644Y NA NA 15q22.2 NA NA NA NA rs1063100 0.58 0.58 0.535 0.594649 0.5726 0.8244 0.6513 0.2534 0.8016 0.58 0.85 0.64 0.25 0.6153 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749981 NA NA 0.573505 0.287562 NA 0.391 NA 3.9052616 1261 19 33117775 33117775 G C intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs62124306 0.05 0.05 0.056 0.0638978 0.0249 0.0337 0.0274 0.1377 0.0613 0.02 0.04 0.03 0.12 0.0479 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080125 NA NA 0.022098 0.11212 NA 0.072 NA 3.905102 1262 18 33713287 33713287 T A intronic ELP2 NA NA NA intronic ENSG00000134759 NA NA NA Score=459;Name=lod=98 NA 18q12.2 NA NA NA NA rs1785905 0.35 0.35 0.333 0.320487 0.3797 0.2014 0.3847 0.382 0.2536 0.4 0.19 0.43 0.39 0.3443 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.880824 1.880824 NA 0.371047 0.366773 NA 0.326 NA 3.904953 1262 17 38349741 38349741 C G intronic RAPGEFL1 NA NA NA intronic ENSG00000108352 NA NA NA NA NA 17q21.1 NA NA NA NA rs62065226 0.03 0.03 0.021 0.0231629 0.0527 0.001 0.0447 0.0015 0.0297 0.06 0.0017 0.05 0.0041 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52294 NA NA 0.042426 0.013006 NA 0.029 NA 3.904874 1262 19 41932120 41932120 C T exonic B3GNT8 NA synonymous SNV B3GNT8:NM_198540:exon3:c.G564A:p.V188V exonic ENSG00000177191 NA synonymous SNV ENSG00000177191:ENST00000321702:exon3:c.G564A:p.V188V NA NA 19q13.2 NA NA NA NA rs284661 0.49 0.49 0.469 0.490815 0.5895 0.4306 0.4467 0.407 0.5961 0.58 0.46 0.51 0.39 0.5649 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459134 NA NA 0.607442 0.439401 NA 0.29 NA 3.9048246 1262 19 39976464 39976464 C G intronic TIMM50 NA NA NA intronic ENSG00000105197 NA NA NA Score=550;Name=lod=229 NA 19q13.2 NA NA NA NA rs4803245 0.59 0.59 0.613 NA NA NA NA NA NA 0.56 0.51 0.55 0.78 0.5737 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.312158 1.312158 NA 0.521628 0.754426 NA 0.536 NA 3.904672 1262 1 6170353 6170353 C T intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs2281303 0.15 0.15 0.126 0.170128 0.0954 0.1974 0.1556 0.1755 0.2219 0.1 0.19 0.17 0.17 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416907 NA NA NA NA NA 0.225 NA 3.9046 1262 7 75187621 75187621 A G intronic HIP1 NA NA NA intronic ENSG00000127946 NA NA NA NA NA 7q11.23 NA NA NA NA rs7806452 0.14 0.14 0.134 0.132788 0.0954 0.2708 0.0764 0.0953 0.1196 0.09 0.28 0.1 0.09 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422673 NA NA NA NA NA 0.08 NA 3.9046 1262 11 72012682 72012682 A G intronic CLPB NA NA NA intronic ENSG00000162129 NA NA NA NA NA 11q13.4 NA NA NA NA rs3750906 0.2 0.2 0.218 0.214457 0.0954 0.2192 0.1311 0.4508 0.0716 0.09 0.2 0.14 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616293 NA NA NA NA NA 0.196 NA 3.9046 1262 14 39681051 39681051 T C intergenic PNN,MIA2 dist=28629;dist=22074 NA NA ncRNA_exonic ENSG00000258671 NA NA NA NA NA 14q21.1 NA NA NA NA rs28547333 0.07 0.07 0.065 0.0826677 0.0954 0.0952 0.0648 0.0038 0.1759 0.1 0.09 0.08 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614546 NA NA NA NA NA 0.116 NA 3.9046 1262 17 73519668 73519668 G A intronic TSEN54 NA NA NA intronic ENSG00000182173 NA NA NA NA NA 17q25.1 NA NA NA NA rs72851947 0.07 0.07 0.078 0.0720847 0.0954 NA 0.0634 0.0998 0.091 0.09 NA 0.1 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159515 NA NA NA NA NA 0.181 NA 3.9046 1262 3 111851890 111851890 A G intronic GCSAM NA NA NA intronic ENSG00000174500 NA NA NA NA NA 3q13.2 NA Name=EBF1_(C-8),Rad21,NFKB,BCL3,Pol2-4H8,EBF NA NA rs879652 0.36 0.36 0.338 0.313698 0.3787 0.4048 0.4006 0.1384 0.3282 0.39 0.47 0.4 0.15 0.3528 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038624 NA NA 0.363953 0.162052 NA 0.312 NA 3.904547 1262 9 104238142 104238142 A C UTR3 TMEM246 NM_032342:c.*21T>G NA NA ncRNA_UTR3 ENSG00000165152 NA NA NA NA NA 9q31.1 NA NA NA NA rs15889 0.3 0.3 0.292 0.322684 0.173 0.3998 0.3588 0.388 0.2832 0.17 0.42 0.3 0.37 0.2472 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.034825 NA NA 0.175465 0.347935 NA 0.29 NA 3.904335 1262 8 7154627 7154627 C T intergenic LOC349196,FAM66B dist=10747;dist=4506 NA NA ncRNA_exonic ENSG00000233295 NA NA NA NA NA 8p23.1 NA NA NA NA rs36116945 0.07 0.07 0.083 0.0816693 0.0497 0.0387 0.0562 0.205 0.0102 0.04 0.04 0.07 0.18 0.0461 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322213 NA 0.07 NA NA NA 0.029 NA 3.9042 1262 11 124135438 124135438 G A exonic OR8G5 NA nonsynonymous SNV OR8G5:NM_001005198:exon1:c.G716A:p.G239E ncRNA_exonic ENSG00000255298 NA NA NA NA NA 11q24.2 NA NA NA NA rs2512167 0.5 0.5 0.461 0.438498 0.5527 0.5833 0.5591 0.292 0.2843 0.54 0.59 0.54 0.3 0.4975 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472286 NA NA 0.54568 0.331081 NA 0.304 NA 3.90412 1262 6 74533192 74533192 T G exonic CD109 NA synonymous SNV CD109:NM_001159588:exon32:c.T3942G:p.A1314A,CD109:NM_001159587:exon33:c.T4122G:p.A1374A,CD109:NM_133493:exon33:c.T4173G:p.A1391A exonic ENSG00000156535 NA synonymous SNV ENSG00000156535:ENST00000422508:exon32:c.T3942G:p.A1314A,ENSG00000156535:ENST00000287097:exon33:c.T4173G:p.A1391A,ENSG00000156535:ENST00000437994:exon33:c.T4122G:p.A1374A Score=466;Name=lod=104 NA 6q13 NA NA NA NA rs2917887 0.88 0.88 0.849 0.844649 0.9294 0.9514 0.928 0.6619 0.8354 0.94 0.94 0.92 0.7 0.9026 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699934 NA NA 0.930698 0.720154 NA 0.899 NA 3.9039686 1262 8 142445095 142445095 C T intronic MROH5 NA NA NA ncRNA_exonic ENSG00000271959 NA NA NA NA NA 8q24.3 NA NA NA NA rs28592919 0.29 0.29 0.237 0.302516 0.4294 0.2718 0.2781 0.1399 0.4407 0.41 0.27 0.31 0.13 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973204 NA NA NA NA NA NA NA 3.9039333 1262 8 142445097 142445097 A T intronic MROH5 NA NA NA ncRNA_exonic ENSG00000271959 NA NA NA NA NA 8q24.3 NA NA NA NA rs28590477 0.29 0.29 0.255 0.302516 0.4294 0.2718 0.2781 0.1399 0.4407 0.41 0.27 0.31 0.13 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133934 NA NA NA NA NA NA NA 3.9039333 1262 2 58390538 58390538 T C intronic FANCL NA NA NA UTR3 ENSG00000115392 ENST00000540646:c.*256A>G NA NA NA NA 2p16.1 NA NA NA NA rs10445895 0.06 0.06 0.058 0.047524 0.0875 0.0169 0.0735 0.0431 0.0256 0.08 0.02 0.08 0.05 0.076 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.154287 NA NA 0.099302 0.04108 NA 0.116 NA 3.9038647 1262 12 114397634 114397634 A G intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs117916372 0.08 0.08 0.048 0.077476 0.0268 0.1131 0.2421 0.0461 0.0184 0.03 0.13 0.19 0.03 0.0498 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.840397 NA NA 0.019651 0.034044 NA 0.029 NA 3.903749 1262 6 17781577 17781577 T C intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs41267714 0.02 0.02 0.011 0.00958466 0.0338 NA 0.013 NA 0.0051 0.04 NA 0.02 NA 0.027 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062853 NA NA 0.035584 0.011206 NA 0.022 NA 3.903616 1262 2 74512808 74512808 G A intronic SLC4A5 NA NA NA intronic ENSG00000188687,ENSG00000264324 NA NA NA NA NA 2p13.1 NA NA NA NA rs12617294 0.12 0.12 0.128 0.147165 0.0964 0.2083 0.0836 0.1717 0.1483 0.08 0.2 0.09 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713075 NA NA NA NA NA 0.145 NA 3.9036 1262 3 154034043 154034043 T C intronic DHX36 NA NA NA intronic ENSG00000174953 NA NA NA NA NA 3q25.2 NA NA NA NA rs3817166 0.22 0.22 0.204 0.205471 0.0964 0.371 0.2968 0.1415 0.1687 0.09 0.41 0.28 0.15 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514977 NA NA NA NA NA 0.196 NA 3.9036 1262 5 78952691 78952691 G A intronic PAPD4 NA NA NA intronic ENSG00000164329 NA NA NA NA NA 5q14.1 NA NA NA NA rs67039976 0.22 0.22 0.221 0.229633 0.0964 0.1359 0.2291 0.4735 0.1339 0.1 0.16 0.22 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318416 1.318416 NA NA NA NA 0.283 NA 3.9036 1262 6 7605560 7605560 T C intronic SNRNP48 NA NA NA intronic ENSG00000168566 NA NA NA NA NA 6p24.3 NA NA NA NA rs7747290 0.12 0.12 0.129 0.125399 0.0964 NA 0.0735 0.3525 0.0143 0.09 NA 0.07 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.06976 NA NA NA NA NA 0.188 NA 3.9036 1262 6 29591864 29591864 G A intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs3025626 0.09 0.09 0.073 0.105631 0.0964 0.12 0.0793 0.0961 0.1319 0.08 0.12 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819766 NA NA NA NA NA 0.123 NA 3.9036 1262 9 4622312 4622312 T C intronic SPATA6L NA NA NA intronic ENSG00000106686 NA NA NA NA NA 9p24.1 NA NA NA NA rs10758638 0.22 0.22 0.219 0.244609 0.0964 0.2758 0.2205 0.351 0.2382 0.1 0.3 0.23 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595491 NA NA NA NA NA 0.254 NA 3.9036 1262 11 43340429 43340429 G C intronic API5 NA NA NA intronic ENSG00000166181 NA NA NA NA NA 11p12 NA NA NA NA rs2270573 0.09 0.09 0.045 0.0864617 0.0964 0.0317 0.2565 0.0151 0.1084 0.1 0.03 0.23 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720519 NA NA NA NA NA 0.065 NA 3.9036 1262 11 123994008 123994008 T C intronic VWA5A NA NA NA intronic ENSG00000110002 NA NA NA NA NA 11q24.2 NA NA NA NA rs880321 0.07 0.07 0.063 0.0732827 0.0964 0.0397 0.0576 0.0507 0.1258 0.09 0.05 0.05 0.05 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000316 NA NA NA NA NA 0.029 NA 3.9036 1262 14 95911060 95911060 C T intronic SYNE3 NA NA NA intronic ENSG00000176438 NA NA NA NA NA 14q32.13 NA NA NA NA rs8007261 0.06 0.06 0.063 0.0698882 0.0964 0.002 0.062 0.0681 0.1207 0.1 0.0017 0.08 0.08 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315541 NA NA NA NA NA 0.138 NA 3.9036 1262 22 45927045 45927045 T C intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs6006767 0.1 0.1 0.078 0.109026 0.0964 0.0972 0.1556 0.0514 0.1789 0.11 0.1 0.14 0.05 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305012 NA NA NA NA ID=COSN166782;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.196 NA 3.9036 1262 3 98531342 98531342 A G intronic DCBLD2 NA NA NA intronic ENSG00000057019 NA NA NA Score=681;Name=lod=784 NA 3q12.1 NA NA NA NA rs9814819 0.29 0.29 0.287 0.310503 0.3429 0.2252 0.3242 0.3366 0.32 0.36 0.19 0.31 0.29 0.3866 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.8463 2.8463 NA 0.366961 0.342802 NA 0.29 NA 3.903539 1262 6 17794433 17794433 C T intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs77012093 0.02 0.02 0.015 0.00958466 0.0338 NA 0.013 NA 0.0051 0.04 NA 0.02 NA 0.0265 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474614 1.474614 NA 0.036195 0.011413 NA 0.022 NA 3.903505 1262 10 44868864 44868864 C T intronic CXCL12 NA NA NA intronic ENSG00000107562 NA NA NA NA NA 10q11.21 NA NA NA NA rs266090 0.03 0.03 0.021 0.0335463 0.0517 0.001 0.0216 0.0174 0.0787 0.06 NA 0.02 0.02 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921962 NA NA 0.04494 0.020231 NA 0.036 NA 3.90336 1262 X 2692710 2692710 A G ncRNA_intronic XGPY2 NA NA NA intronic ENSG00000124343 NA NA NA NA NA Xp22.33 NA NA NA NA rs2259750 0.29 0.29 0.24801 NA NA NA NA NA NA 0.23 0.49 0.13 0.27 0.2421 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779605 NA NA 0.187966 0.190422 NA 0.217 NA 3.9032673 1262 6 17817503 17817503 G A intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs41267718 0.02 0.02 0.01 0.00998403 0.0348 0.001 0.013 NA 0.0051 0.04 0.0035 0.02 NA 0.0259 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567592 NA NA 0.0361 0.010864 NA 0.022 NA 3.9032 1262 19 2208859 2208859 T C intronic DOT1L NA NA NA intronic ENSG00000104885 NA NA NA NA NA 19p13.3 NA Name=CTCF,CTCF_(C-20) NA NA rs2301799 0.45 0.45 0.428 0.411342 0.5626 0.4454 0.4625 0.2186 0.4448 0.56 0.49 0.49 0.22 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218846 NA NA 0.534255 0.268786 NA 0.464 NA 3.903145 1262 4 2955145 2955145 T C intronic NOP14 NA NA NA ncRNA_intronic ENSG00000249673 NA NA NA NA NA 4p16.3 NA NA NA NA rs1475977 0.42 0.42 0.405 0.40016 0.4304 0.1875 0.4107 0.6747 0.2096 0.44 0.18 0.42 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233071 NA NA NA NA NA 0.326 NA 3.9029333 1262 4 2955465 2955465 T C intronic NOP14 NA NA NA ncRNA_intronic ENSG00000249673 NA NA NA NA NA 4p16.3 NA NA NA NA rs1475975 0.42 0.42 0.402 0.400559 0.4304 0.1875 0.4107 0.6762 0.2096 0.44 0.18 0.42 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032141 NA NA NA NA NA 0.341 NA 3.9029333 1262 6 7331819 7331819 C T intronic CAGE1 NA NA NA ncRNA_exonic ENSG00000219375 NA NA NA NA NA 6p24.3 NA NA NA NA rs2764096 0.56 0.56 0.612 0.592452 0.4304 0.5268 0.5173 0.9115 0.4489 0.43 0.51 0.49 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.761416 NA NA NA NA NA 0.543 NA 3.9029333 1262 16 703738 703738 G A intronic WDR90 NA NA NA intronic ENSG00000161996 NA NA NA NA NA 16p13.3 NA NA NA NA rs113601268 0.03 0.03 0.026 0.0321486 0.0288 0.005 0.0115 0.062 0.0378 0.03 0.01 0.01 0.06 0.0319 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028082 NA NA 0.036495 0.050472 NA 0.029 NA 3.902805 1262 2 43903483 43903483 T C intronic PLEKHH2 NA NA NA intronic ENSG00000152527 NA NA NA NA NA 2p21 NA Name=TAF1,E2F6_(H-50),GABP,Pol2,YY1_(C-20),Sin3Ak-20,Pol2-4H8,ZBTB7A_(SC-34508),ELF1_(SC-631),HEY1,SETDB1 Name=109 NA rs4952995 0.57 0.57 0.559 0.560503 0.7187 0.2619 0.5634 0.6142 0.6309 0.72 0.27 0.64 0.62 0.6542 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013042 NA NA 0.724455 0.648873 NA 0.558 NA 3.902645 1262 1 3784454 3784454 T C intronic DFFB NA NA NA intronic ENSG00000169598 NA NA NA NA NA 1p36.32 NA NA NA NA rs76754622 0.09 0.09 0.098 0.0874601 0.0974 0.002 0.0764 0.1619 0.0726 0.09 0.0017 0.09 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416685 NA NA NA NA NA 0.065 NA 3.9026 1262 6 29576198 29576198 A G intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29261 0.09 0.09 0.074 0.105631 0.0974 0.12 0.0807 0.0946 0.1319 0.08 0.12 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.16521 3.16521 NA NA NA NA 0.123 NA 3.9026 1262 6 29576590 29576590 G A intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29263 0.09 0.09 0.063 0.105631 0.0974 0.12 0.0807 0.0946 0.1319 0.08 0.12 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.832341 NA NA NA NA NA NA NA 3.9026 1262 6 29576592 29576592 A G intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29262 0.09 0.09 0.061 0.105631 0.0974 0.12 0.0807 0.0946 0.1319 0.08 0.12 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912233 NA NA NA NA NA NA NA 3.9026 1262 6 29581343 29581343 T A intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29224 0.09 0.09 0.075 0.108826 0.0974 0.122 0.0807 0.0946 0.1462 0.08 0.12 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.698537 1.698537 NA NA NA NA 0.123 NA 3.9026 1262 9 79867082 79867082 A C intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA NA NA NA rs17337881 0.09 0.09 0.09 0.0738818 0.0974 0.123 0.062 0.0356 0.0593 0.11 0.13 0.06 0.05 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377918 NA NA NA NA NA 0.051 NA 3.9026 1262 9 98239730 98239730 G A intronic PTCH1 NA NA NA intronic ENSG00000185920 NA NA NA NA NA 9q22.32 NA NA NA NA rs28448271 0.1 0.1 0.105 0.0876597 0.0974 0.0843 0.0677 0.1309 0.0368 0.11 0.1 0.07 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189916 NA NA NA NA NA 0.058 NA 3.9026 1262 15 90344266 90344266 C G intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs55653418 0.05 0.05 0.051 0.0471246 0.0974 0.001 0.0504 0.0356 0.0562 0.1 0.0035 0.04 0.04 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51936 NA NA NA NA NA 0.094 NA 3.9026 1262 16 48180110 48180110 C T intronic ABCC12 NA NA NA intronic ENSG00000140798 NA NA NA NA NA 16q12.1 NA NA NA NA rs16945894 0.08 0.08 0.066 0.0507188 0.0974 0.0952 0.0519 0.0045 0.0184 0.09 0.11 0.09 0.0041 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258128 NA NA NA NA NA 0.029 NA 3.9026 1262 6 35260615 35260615 T C intronic ZNF76 NA NA NA intronic ENSG00000065029 NA NA NA NA NA 6p21.31 NA NA NA NA rs4713848 0.11 0.11 0.096 0.113419 0.0189 0.3284 0.0965 0.0416 0.0982 0.03 0.3 0.08 0.04 0.0589 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.076309 2.076309 NA 0.019767 0.034498 NA 0.051 NA 3.902433 1262 19 2037846 2037846 A C UTR3 MKNK2 NM_199054:c.*1766T>G NA NA UTR3 ENSG00000099875 ENST00000591601:c.*1766T>G,ENST00000250896:c.*1766T>G NA NA NA NA 19p13.3 NA NA NA NA rs1064543 0.43 0.43 0.398 NA NA NA NA NA NA 0.48 0.5 0.44 0.27 0.431 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603091 NA NA NA NA NA 0.333 NA 3.9023334 1262 19 652888 652888 C T intronic RNF126 NA NA NA intronic ENSG00000070423 NA NA NA NA NA 19p13.3 NA NA NA NA rs72974187 0.02 0.02 0.02 0.0221645 0.0358 0.0298 0.0173 0.0023 0.0307 0.04 0.02 0.02 NA 0.0285 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198121 NA NA 0.033605 0.007036 NA 0.058 NA 3.902095 1262 6 35260858 35260858 G A intronic ZNF76 NA NA NA intronic ENSG00000065029 NA NA NA NA NA 6p21.31 NA NA NA NA rs4711413 0.11 0.11 0.1 0.113419 0.0189 0.3284 0.0965 0.0416 0.0982 0.03 0.31 0.08 0.04 0.0592 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422376 NA NA 0.019916 0.03391 NA 0.051 NA 3.901984 1262 9 113489871 113489871 A G intronic MUSK NA NA NA ncRNA_exonic ENSG00000223918 NA NA NA NA NA 9q31.3 NA NA NA NA rs10817085 0.32 0.32 0.33 0.285942 0.4314 0.2183 0.2954 0.292 0.1912 0.43 0.2 0.34 0.29 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120852 NA NA NA NA NA 0.246 NA 3.9019333 1262 10 134912098 134912098 C T intronic GPR123 NA NA NA intronic ENSG00000197177 NA NA NA NA NA 10q26.3 NA NA NA NA rs4838796 0.02 0.02 0.012 0.0133786 0.0388 0.004 0.0144 0.0008 0.0133 0.04 0.0035 0.02 0.0041 0.0263 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174753 NA NA 0.033147 0.008398 NA 0.022 NA 3.901753 1262 2 223786263 223786263 G A intronic ACSL3 NA NA NA intronic ENSG00000123983 NA NA NA NA NA 2q36.1 NA NA NA NA rs80245918 0.05 0.05 0.044 0.0433307 0.0984 0.001 0.0447 0.0234 0.0562 0.09 0.0017 0.04 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669777 NA NA NA NA NA 0.043 NA 3.9016 1262 15 76075343 76075343 G A intergenic MIR4313,UBE2Q2 dist=20687;dist=60279 NA NA ncRNA_exonic ENSG00000187812 NA NA NA NA NA 15q24.2 NA NA NA NA rs79164384 0.17 0.17 0.168 0.176318 0.0984 0.3948 0.1599 0.0038 0.2761 0.1 0.4 0.15 0.01 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550326 NA NA NA NA NA 0.116 NA 3.9016 1262 19 55711543 55711543 G A intronic PTPRH NA NA NA intronic ENSG00000080031 NA NA NA NA NA 19q13.42 NA NA NA NA rs17700265 0.06 0.06 0.057 0.0617013 0.0984 0.0268 0.0447 0.059 0.0757 0.1 0.01 0.04 0.05 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800896 NA NA NA NA NA 0.101 NA 3.9016 1262 14 24545375 24545375 C T exonic CPNE6 NA synonymous SNV CPNE6:NM_006032:exon11:c.C942T:p.T314T exonic ENSG00000100884 NA synonymous SNV ENSG00000100884:ENST00000216775:exon11:c.C942T:p.T314T,ENSG00000100884:ENST00000397016:exon12:c.C942T:p.T314T,ENSG00000100884:ENST00000537691:exon12:c.C1107T:p.T369T NA NA 14q11.2 NA NA NA NA rs2070341 0.47 0.47 0.462 0.39377 0.6193 0.5337 0.4625 0.0787 0.3947 0.63 0.55 0.5 0.1 0.529 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86106 NA NA 0.616977 0.170222 NA 0.449 NA 3.9013896 1262 12 124102871 124102871 T C intronic DDX55 NA NA NA UTR5 ENSG00000111364 ENST00000421670:c.-360T>C NA NA NA NA 12q24.31 NA NA NA NA rs68163141 0.23 0.23 0.215 0.252396 0.2654 0.0159 0.2205 0.447 0.2423 0.26 0.02 0.21 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.424489 NA NA NA NA NA 0.188 NA 3.9012667 1262 4 70146080 70146080 T C upstream UGT2B28 NA NA NA upstream ENSG00000135226 NA NA NA NA NA 4q13.2 NA NA Name=4 NA rs13124875 0.67 0.67 0.671 0.640375 0.7654 0.5962 0.67 0.5877 0.6074 0.79 0.58 0.7 0.59 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.867132 NA NA NA NA NA 0.623 NA 3.9012666 1262 7 4795042 4795042 G A intronic FOXK1 NA NA NA intronic ENSG00000164916 NA NA NA NA NA 7p22.1 NA NA NA NA rs77087728 0.02 0.02 0.013 0.0103834 0.0338 NA 0.0115 0.0023 0.0072 0.04 NA 0.01 0.0041 0.0255 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826427 NA NA 0.039544 0.00749 NA 0.007 NA 3.901156 1262 3 164710040 164710040 G A intronic SI NA NA NA intronic ENSG00000090402 NA NA NA NA NA 3q26.1 NA NA NA NA rs1079879 0.02 0.02 0.012 0.0171725 0.0378 NA 0.0259 0.0008 0.0297 0.03 NA 0.03 NA 0.0258 0.036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688592 NA NA 0.035581 0.007944 NA 0.007 NA 3.900819 1262 1 163307754 163307754 A G intronic NUF2 NA NA NA intronic ENSG00000143228 NA NA NA NA NA 1q23.3 NA NA NA NA rs4657262 0.02 0.02 0.011 0.0147764 0.0487 0.001 0.0159 0.0023 0.0102 0.04 0.0017 0.01 0.002 NA 0.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619101 NA NA 0.050629 0.011561 NA 0.007 NA 3.900671 1262 2 143692388 143692388 T C intronic KYNU NA NA NA intronic ENSG00000115919 NA NA NA NA NA 2q22.2 NA NA NA NA rs76614188 0.14 0.14 0.121 0.150559 0.0994 0.3175 0.0908 0.0719 0.18 0.1 0.29 0.09 0.05 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273512 NA NA NA NA NA 0.065 NA 3.9006 1262 3 52854140 52854140 T G intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs9831977 0.08 0.08 0.069 0.0700879 0.0994 0.0417 0.1167 0.0605 0.0491 0.1 0.04 0.14 0.06 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.925144 1.925144 NA NA NA NA 0.145 NA 3.9006 1262 6 30138645 30138645 G A intronic TRIM15 NA NA NA intronic ENSG00000204610 NA NA NA NA NA 6p22.1 NA NA NA NA rs1029238 0.13 0.13 0.125 0.138578 0.0994 0.1885 0.1023 0.1634 0.1196 0.1 0.2 0.1 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928365 NA NA NA NA NA 0.058 NA 3.9006 1262 7 5254447 5254447 C T intronic WIPI2 NA NA NA intronic ENSG00000157954 NA NA NA NA NA 7p22.1 NA NA NA NA rs28607283 0.06 0.06 0.057 0.0497204 0.0994 0.002 0.0965 0.0242 0.0491 0.09 0.0017 0.1 0.04 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6534 NA NA NA NA NA 0.036 NA 3.9006 1262 12 88379520 88379520 T A intronic C12orf50 NA NA NA intronic ENSG00000165805 NA NA NA NA NA 12q21.32 NA NA NA NA rs11104702 0.24 0.24 0.27 0.302516 0.0994 0.0565 0.1383 0.8132 0.1912 0.09 0.04 0.13 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655518 NA NA NA NA NA 0.312 NA 3.9006 1262 19 4697757 4697757 C G intronic DPP9 NA NA NA intronic ENSG00000142002 NA NA NA NA NA 19p13.3 NA NA NA NA rs7254243 0.1 0.1 0.09 0.112021 0.0994 0.0595 0.0663 0.1838 0.1145 0.1 0.07 0.06 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234147 NA NA NA NA NA 0.109 NA 3.9006 1262 19 41596587 41596587 T C intronic CYP2A13 NA NA NA intronic ENSG00000197838 NA NA NA NA NA 19q13.2 NA NA NA NA rs8192786 0.13 0.13 0.09 0.144968 0.0994 0.0734 0.2507 0.2194 0.09 0.1 0.07 0.18 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126441 NA NA NA NA NA 0.087 NA 3.9006 1262 11 4928866 4928866 C T exonic OR51A7 NA synonymous SNV OR51A7:NM_001004749:exon1:c.C267T:p.A89A exonic ENSG00000176895 NA synonymous SNV ENSG00000176895:ENST00000359350:exon1:c.C267T:p.A89A NA NA 11p15.4 NA NA NA NA rs7941509 0.36 0.36 0.342 0.398363 0.6143 0.0804 0.3919 0.2625 0.6922 0.61 0.08 0.46 0.24 0.5351 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527405 NA NA 0.616799 0.302817 ID=COSM1561380;OCCURENCE=1(large_intestine) 0.384 NA 3.9004676 1262 12 109637372 109637372 G C intronic ACACB NA NA NA intronic ENSG00000076555 NA NA NA NA NA 12q24.11 NA NA NA NA rs73191140 0.02 0.02 0.012 0.0129792 0.0408 NA 0.0115 NA 0.0164 0.04 NA 0.02 NA 0.0275 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166288 NA NA 0.031395 0.008398 NA 0.094 NA 3.900305 1262 22 32587348 32587348 A G intronic RFPL2 NA NA NA intronic ENSG00000128253 NA NA NA NA NA 22q12.3 NA NA NA NA rs9621401 0.04 0.04 0.029 0.0493211 0.0378 0.0099 0.0216 0.1233 0.0215 0.03 0.01 0.02 0.09 0.0343 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72309 NA NA 0.028023 0.113936 NA 0.072 NA 3.899877 1262 22 36695123 36695123 G C intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA NA NA rs16996650 0.05 0.05 0.03 0.052516 0.0328 0.1131 0.0245 0.0151 0.0808 0.04 0.1 0.03 0.01 0.0392 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139508 NA NA 0.028256 0.021788 NA 0.043 NA 3.899744 1262 2 26667273 26667273 C T intronic DRC1 NA NA NA intronic ENSG00000157856 NA NA NA NA NA 2p23.3 NA NA NA NA rs116115107 0.02 0.02 0.017 0.0139776 0.0388 NA 0.0144 NA 0.0215 0.04 NA 0.02 NA 0.0243 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.086788 NA NA 0.037209 0.00749 NA 0.087 NA 3.899691 1262 1 149880650 149880650 C T intronic SV2A NA NA NA intronic ENSG00000159164 NA NA NA NA NA 1q21.2 NA NA NA NA rs35002905 0.09 0.09 0.085 0.0948482 0.1004 0.1379 0.049 0.0023 0.2025 0.1 0.16 0.07 0.002 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005621 NA NA NA NA NA 0.116 NA 3.8996 1262 4 147215026 147215026 C T intronic SLC10A7 NA NA NA intronic ENSG00000120519 NA NA NA NA NA 4q31.22 NA NA NA NA rs10032088 0.1 0.1 0.085 0.10603 0.1004 0.0843 0.0879 0.1225 0.1247 0.1 0.09 0.11 0.1 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824939 NA NA NA NA NA 0.116 NA 3.8996 1262 19 49401205 49401205 C T intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA NA NA NA rs17847559 NA NA NA 0.0926518 0.1004 0.1171 0.0749 0.0303 0.1564 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959376 NA NA NA NA NA 0.043 NA 3.8996 1262 11 124947476 124947476 T C intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs77657184 0.02 0.02 0.029 0.0157748 0.0388 0.001 0.0303 0.0113 0.0031 0.04 0.0017 0.03 0.01 0.0257 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.887267 2.887267 NA 0.035946 0.012057 NA 0.087 NA 3.899554 1262 16 4936095 4936095 A C intronic PPL NA NA NA intronic ENSG00000118898 NA NA NA NA NA 16p13.3 NA NA NA NA rs117094803 0.02 0.02 0.017 0.0133786 0.0388 NA 0.0202 0.0023 0.0112 0.05 NA 0.02 0.01 0.0289 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172037 NA NA 0.032915 0.006148 NA 0.058 NA 3.899385 1262 4 175413296 175413296 C T intronic HPGD NA NA NA intronic ENSG00000164120 NA NA NA NA NA 4q34.1 NA NA NA NA rs17060532 0.02 0.02 0.021 0.0119808 0.0328 NA 0.0216 0.0045 0.0061 0.04 NA 0.02 0.0041 0.0286 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472868 NA NA 0.039581 0.010223 NA NA NA 3.899019 1262 5 142500753 142500753 G A intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA NA NA 5q31.3 NA NA NA NA rs41290619 0.02 0.02 0.015 0.0105831 0.0427 NA 0.0086 0.0015 0.002 0.05 NA 0.02 NA 0.0259 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208977 NA NA 0.032674 0.006809 NA 0.007 NA 3.898726 1262 2 135710322 135710322 A G intronic CCNT2 NA NA NA exonic ENSG00000082258 NA unknown UNKNOWN NA NA 2q21.3 NA NA Name=14 NA rs10166142 0.69 0.69 0.698 0.702875 0.5457 0.877 0.6225 0.6641 0.7945 0.53 0.9 0.64 0.72 0.587 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301931 NA NA 0.46859 0.636859 NA 0.558 NA 3.89871 1262 4 6066556 6066556 G T intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs150343884 0.02 0.02 0.011 0.0127796 0.0328 NA 0.0144 0.0015 0.0194 0.03 NA 0.02 0.0041 0.0276 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925503 NA NA 0.04093 0.007717 NA 0.007 NA 3.89867 1262 1 20964270 20964270 C G intronic PINK1 NA NA NA intronic ENSG00000158828 NA NA NA NA NA 1p36.12 NA NA NA NA rs2298297 0.15 0.15 NA 0.130391 0.1014 0.1835 0.1816 0.0877 0.1268 0.14 0.18 0.16 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418588 NA NA NA NA NA 0.138 NA 3.8986 1262 1 179363275 179363275 C A intronic AXDND1 NA NA NA intronic ENSG00000162779 NA NA NA NA NA 1q25.2 NA NA NA NA rs16854064 0.11 0.11 0.104 0.096845 0.1014 0.1022 0.0634 0.1619 0.0225 0.11 0.08 0.07 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367986 NA NA NA NA NA 0.138 NA 3.8986 1262 2 115038733 115038733 C T intergenic LOC440900,DPP10 dist=273846;dist=161166 NA NA ncRNA_exonic ENSG00000238520 NA NA NA NA NA 2q14.1 NA NA NA NA rs72839147 0.12 0.12 0.097 0.10603 0.1014 0.0744 0.2161 0.1089 0.0613 0.12 0.08 0.2 0.1 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394791 NA NA NA NA NA 0.08 NA 3.8986 1262 7 159025494 159025494 C T intergenic VIPR2,NONE dist=87845;dist=NONE NA NA ncRNA_intronic ENSG00000229435 NA NA NA NA NA 7q36.3 NA NA NA NA rs35096191 0.12 0.12 0.114 0.128994 0.1014 0.2004 0.1138 0.0545 0.1953 0.1 0.2 0.1 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758221 NA NA NA NA NA 0.08 NA 3.8986 1262 11 10503451 10503451 G A intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs73409956 0.1 0.1 0.102 0.102436 0.1014 0.003 0.0807 0.2186 0.0644 0.1 NA 0.09 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.069694 NA NA NA NA NA 0.08 NA 3.8986 1262 14 78217597 78217597 G A intronic SNW1 NA NA NA intronic ENSG00000100603,ENSG00000119705 NA NA NA NA NA 14q24.3 NA NA NA NA rs61990684 0.1 0.1 0.091 0.0986422 0.1014 0.006 0.0692 0.2156 0.0542 0.1 NA 0.08 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367977 NA NA NA NA NA 0.094 NA 3.8986 1262 20 34312713 34312713 C T intronic RBM39 NA NA NA intronic ENSG00000131051 NA NA NA NA NA 20q11.22 NA NA NA NA rs11699044 0.14 0.14 0.136 0.163738 0.1014 0.1319 0.1383 0.2587 0.1503 0.1 0.12 0.16 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573338 NA NA NA NA NA 0.123 NA 3.8986 1262 8 59508076 59508076 A G intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA Name=41 NA rs16923588 0.49 0.49 0.503 0.502995 0.3837 0.6131 0.2853 0.6891 0.4151 0.37 0.59 0.33 0.69 0.3823 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596928 NA NA 0.335581 0.647526 NA 0.399 NA 3.898419 1262 3 50289635 50289635 C T intronic GNAI2 NA NA NA intronic ENSG00000114353 NA NA NA NA NA 3p21.31 NA NA NA NA rs12721536 0.03 0.03 0.025 0.0209665 0.0547 NA 0.0331 0.0038 0.0225 0.06 NA 0.04 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150732 NA NA 0.04714 0.007948 NA 0.014 NA 3.89816 1262 21 32499501 32499501 G T intronic TIAM1 NA NA NA intronic ENSG00000156299 NA NA NA NA NA 21q22.11 NA NA NA NA rs11700768 0.02 0.02 0.008 0.0183706 0.0408 0.002 0.0202 NA 0.0358 0.04 0.0017 0.01 NA 0.0299 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363898 NA NA 0.031163 0.005901 NA 0.014 NA 3.898137 1262 14 24791798 24791798 G A intronic ADCY4 NA NA NA UTR3 ENSG00000129467 ENST00000557056:c.*1734C>T NA NA NA NA 14q12 NA NA NA NA rs45442399 0.09 0.09 0.081 0.0914537 0.1113 0.1081 0.0548 0.0477 0.1391 0.1 0.09 0.08 0.06 0.0837 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.02636 NA NA 0.073605 0.049705 ID=COSN164647;OCCURENCE=1(breast) 0.058 NA 3.8980617 1262 21 37431265 37431265 G T UTR5 SETD4 NM_001007259:c.-79C>A NA NA UTR5 ENSG00000185917 ENST00000399212:c.-1583C>A,ENST00000399215:c.-79C>A,ENST00000399208:c.-79C>A,ENST00000399205:c.-1583C>A,ENST00000424303:c.-79C>A,ENST00000443703:c.-79C>A NA NA NA NA 21q22.12 NA NA NA NA rs2051395 0.4 0.4 0.382 0.41274 0.4354 0.3393 0.451 0.3956 0.4611 0.44 0.3 0.46 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358587 NA NA NA NA NA 0.37 NA 3.8979334 1262 14 24428929 24428929 C T intronic DHRS4 NA NA NA ncRNA_intronic ENSG00000215256 NA NA NA NA NA 14q11.2 NA NA NA NA rs10151581 0.55 0.55 0.521 0.60643 0.4354 0.6925 0.6354 0.7163 0.5245 0.37 0.68 0.54 0.67 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885697 NA NA NA NA NA NA NA 3.8979333 1262 19 19244033 19244033 C T intronic TMEM161A NA NA NA UTR5;UTR3 ENSG00000064545;ENSG00000064545 ENST00000592147:c.-478G>A;ENST00000590216:c.*67G>A NA NA NA NA 19p13.11 NA NA NA NA rs72993497 0.08 0.08 0.08 0.0732827 0.0934 NA 0.0879 0.121 0.0532 0.1 NA 0.1 0.12 0.0848 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.049037 NA NA 0.090698 0.117794 NA 0.174 NA 3.8977687 1262 10 8662175 8662175 G A intergenic GATA3,NONE dist=545011;dist=NONE NA NA ncRNA_exonic ENSG00000236420 NA NA NA NA NA 10p14 NA NA NA NA rs72777040 0.11 0.11 0.097 0.113019 0.1024 0.1409 0.0749 0.0961 0.1452 0.11 0.13 0.07 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.219533 NA NA NA NA NA 0.138 NA 3.8976 1262 1 200968879 200968879 G A intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs16847508 0.17 0.17 0.174 0.178315 0.1024 0.1002 0.085 0.4402 0.0491 0.1 0.1 0.09 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042144 NA NA NA NA NA 0.174 NA 3.8976 1262 2 128610747 128610747 G A intronic POLR2D NA NA NA intronic ENSG00000144231 NA NA NA NA NA 2q14.3 NA NA NA NA rs10171898 0.12 0.12 0.131 0.123602 0.1024 0.0466 0.0735 0.2859 0.0409 0.1 0.02 0.07 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066165 NA NA NA NA NA 0.203 NA 3.8976 1262 3 197431649 197431649 C T intronic KIAA0226 NA NA NA intronic ENSG00000145016 NA NA NA NA NA 3q29 NA NA NA NA rs78086828 0.1 0.1 0.11 0.103435 0.1024 0.0308 0.0548 0.1891 0.0982 0.1 0.04 0.06 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.027625 2.027625 NA NA NA NA 0.174 NA 3.8976 1262 3 197432124 197432124 T C intronic KIAA0226 NA NA NA intronic ENSG00000145016 NA NA NA NA NA 3q29 NA NA NA NA rs78872082 0.1 0.1 0.117 0.103634 0.1024 0.0308 0.0548 0.1899 0.0982 0.1 0.04 0.06 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094217 NA NA NA NA NA 0.181 NA 3.8976 1262 6 132014885 132014885 G T intronic ENPP3 NA NA NA intronic ENSG00000154269 NA NA NA NA NA 6q23.2 NA NA NA NA rs3213694 0.28 0.28 0.283 0.29972 0.1024 0.3234 0.2291 0.5182 0.2331 0.09 0.36 0.19 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312793 NA NA NA NA NA 0.37 NA 3.8976 1262 8 41805173 41805173 A C intronic KAT6A NA NA NA intronic ENSG00000083168 NA NA NA NA NA 8p11.21 NA NA NA NA rs56131485 0.11 0.11 0.082 0.0986422 0.1024 0.1954 0.0735 0.0061 0.138 0.11 0.22 0.06 0.0041 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445472 NA NA NA NA NA 0.188 NA 3.8976 1262 11 10503440 10503440 G A intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs79076848 0.12 0.12 0.13 0.130591 0.1024 0.003 0.0879 0.3207 0.0644 0.1 NA 0.1 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050926 NA NA NA NA NA 0.13 NA 3.8976 1262 12 6748035 6748035 C T intronic ACRBP NA NA NA intronic ENSG00000111644 NA NA NA NA NA 12p13.31 NA NA NA NA rs12826388 0.05 0.05 0.038 0.0427316 0.1024 NA 0.0562 0.0091 0.0613 0.1 NA 0.06 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309932 NA NA NA NA NA 0.014 NA 3.8976 1262 12 133313337 133313337 G A intronic ANKLE2 NA NA NA intronic ENSG00000176915 NA NA NA NA NA 12q24.33 NA NA NA NA rs10870504 0.24 0.24 0.216 0.208866 0.1024 0.4921 0.2133 0.1142 0.1513 0.11 0.5 0.22 0.13 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.033435 NA NA NA NA NA 0.167 NA 3.8976 1262 14 39594378 39594378 T G intronic GEMIN2 NA NA NA intronic ENSG00000092208 NA NA NA NA NA 14q21.1 NA NA NA NA rs10131369 0.15 0.15 0.135 0.124601 0.1024 0.3145 0.0591 0.059 0.0869 0.11 0.34 0.07 0.04 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.727868 2.727868 NA NA NA NA 0.043 NA 3.8976 1262 12 70928745 70928745 G A intronic PTPRB NA NA NA ncRNA_intronic ENSG00000258168 NA NA NA NA NA 12q15 NA NA NA NA rs3752702 0.1 0.1 0.085 0.105032 0.17 0.0486 0.1239 0.003 0.2209 0.18 0.05 0.14 0.01 0.1334 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0595 NA NA 0.13251 0.026842 NA 0.029 NA 3.8974233 1262 X 107402684 107402684 G A intronic COL4A6 NA NA NA intronic ENSG00000197565 NA NA NA NA NA Xq22.3 NA NA NA NA rs73251797 0.07 0.07 0.07075 NA NA NA NA NA NA 0.06 0.1 0.04 0.06 0.0529 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218701 NA NA 0.049792 0.059713 NA 0.101 NA 3.897308 1262 13 73309067 73309067 A G intronic BORA NA NA NA intronic ENSG00000136122 NA NA NA NA NA 13q22.1 NA NA NA NA rs78285044 0.02 0.02 0.021 0.0141773 0.0447 NA 0.0317 0.0015 0.002 0.05 0.0017 0.03 0.002 0.0229 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.190508 NA NA 0.035248 0.007821 NA 0.029 NA 3.897152 1262 8 39142264 39142264 A G intronic ADAM32 NA NA NA intronic ENSG00000197140 NA NA NA NA NA 8p11.22 NA NA Name=4 NA rs7008808 0.31 0.31 0.324 0.33726 0.3738 0.1319 0.2882 0.4947 0.3333 0.37 0.12 0.32 0.46 0.3467 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182148 NA NA 0.382553 0.445407 NA 0.471 NA 3.896947 1262 3 156413633 156413633 G C intronic TIPARP NA NA NA intronic ENSG00000163659 NA NA NA NA NA 3q25.31 NA NA NA NA rs112709851 0.05 0.05 NA NA NA NA NA NA NA 0.08 NA 0.08 0.02 0.0271 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001397 NA NA 0.076044 0.026688 NA 0.007 NA 3.896856 1262 16 70172773 70172773 G A intronic PDPR NA NA NA intronic ENSG00000090857 NA NA NA NA NA 16q22.1 NA NA NA NA rs114934918 0.07 0.07 0.064 NA NA NA NA NA NA 0.12 0.05 0.08 0.01 0.1032 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46259 NA NA NA NA NA 0.043 NA 3.8968 1262 1 64095042 64095042 G T intronic PGM1 NA NA NA intronic ENSG00000079739 NA NA NA NA NA 1p31.3 NA NA NA NA rs855313 0.1 0.1 0.102 0.0904553 0.1034 0.0069 0.0965 0.1702 0.0511 0.11 0.01 0.11 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948817 NA NA NA NA NA 0.181 NA 3.8966 1262 3 11951167 11951167 C T intergenic TAMM41,SYN2 dist=62815;dist=94695 NA NA ncRNA_exonic ENSG00000251038 NA NA NA NA NA 3p25.2 NA NA NA NA rs62246118 0.05 0.05 0.038 0.0453275 0.1034 0.001 0.0576 0.0023 0.0808 0.1 NA 0.07 0.002 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64731 NA NA NA NA NA 0.051 NA 3.8966 1262 7 141954822 141954822 G A intronic PRSS58 NA NA NA intronic ENSG00000258223 NA NA NA NA NA 7q34 NA NA NA NA rs1894316 0.18 0.18 0.182 0.198882 0.1034 0.1419 0.2565 0.3328 0.1339 0.09 0.14 0.26 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439038 NA NA NA NA NA 0.261 NA 3.8966 1262 8 17412333 17412333 G A intronic SLC7A2 NA NA NA intronic ENSG00000003989 NA NA NA NA NA 8p22 NA NA NA NA rs2301539 0.19 0.19 0.184 0.206669 0.1034 0.3214 0.1398 0.1982 0.2536 0.11 0.32 0.12 0.24 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.683249 NA NA NA NA NA 0.138 NA 3.8966 1262 13 51969383 51969383 A G intronic INTS6 NA NA NA intronic ENSG00000102786 NA NA NA NA NA 13q14.3 NA NA NA NA rs2277443 0.06 0.06 0.054 0.0880591 0.1034 0.0734 0.0648 0.003 0.2188 0.1 0.06 0.07 0.0041 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.772232 2.772232 NA NA NA NA 0.058 NA 3.8966 1262 14 28734303 28734303 A C intergenic LINC00645,FOXG1 dist=625461;dist=501975 NA NA ncRNA_exonic ENSG00000197358 NA NA NA NA NA 14q12 NA NA NA NA rs12147374 0.06 0.06 0.044 0.076278 0.1034 0.0159 0.0677 0.0522 0.1493 0.1 0.01 0.08 0.05 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.251852 2.251852 NA NA NA NA 0.022 NA 3.8966 1262 8 67925380 67925380 G A intronic PPP1R42 NA NA NA intronic ENSG00000178125 NA NA NA NA NA 8q13.1 NA NA NA NA rs78625536 0.02 0.02 0.013 0.014377 0.0398 NA 0.0403 0.003 NA 0.03 NA 0.03 0.002 0.0268 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.265106 1.265106 NA 0.036977 0.00749 NA 0.007 NA 3.896423 1262 4 57340592 57340592 C T intronic SRP72 NA NA NA exonic ENSG00000174780 NA synonymous SNV ENSG00000174780:ENST00000504757:exon5:c.C645T:p.N215N NA NA 4q12 NA NA NA NA rs11610 0.39 0.39 0.387 0.402556 0.3121 0.4762 0.4885 0.3979 0.365 0.31 0.46 0.44 0.42 0.3559 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.54976 1.54976 NA 0.269651 0.369269 NA 0.391 NA 3.8956823 1262 3 192873763 192873763 T C intergenic MB21D2,HRASLS dist=237813;dist=85154 NA NA ncRNA_exonic ENSG00000236229 NA NA NA NA NA 3q29 NA NA NA NA rs2229371 0.06 0.06 NA 0.0728834 0.1044 0.002 0.0879 0.0378 0.1503 0.1 0.01 0.09 0.05 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357762 NA NA NA NA NA 0.094 NA 3.8956 1262 5 112901836 112901836 A T intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA NA NA rs11747062 0.09 0.09 0.095 0.0884585 0.1044 0.0298 0.036 0.1634 0.0685 0.11 0.04 0.03 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.235634 NA NA NA NA NA 0.174 NA 3.8956 1262 10 11355993 11355993 G A intronic CELF2 NA NA NA intronic ENSG00000048740 NA NA NA NA NA 10p14 NA NA NA NA rs11257056 0.14 0.14 0.137 0.150359 0.1044 0.3363 0.0605 0.0159 0.2515 0.11 0.35 0.06 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3688 NA NA NA NA NA 0.123 NA 3.8956 1262 16 57113341 57113341 A G intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs75003587 0.05 0.05 0.041 0.0615016 0.1044 0.0159 0.0461 0.0098 0.1452 0.1 0.02 0.07 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363956 NA NA NA NA NA 0.043 NA 3.8956 1262 17 36934475 36934475 C T intronic PIP4K2B NA NA NA intronic ENSG00000141720 NA NA NA NA NA 17q12 NA NA NA NA rs7207178 0.15 0.15 0.159 0.171925 0.1044 0.1032 0.0692 0.2731 0.2485 0.11 0.12 0.09 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104666 NA NA NA NA NA 0.13 NA 3.8956 1262 17 57943906 57943906 A G intronic TUBD1 NA NA NA intronic ENSG00000108423 NA NA NA NA NA 17q23.1 NA NA NA NA rs35806089 0.13 0.13 0.12 0.138578 0.1044 0.1171 0.1398 0.236 0.0634 0.1 0.12 0.12 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138287 NA NA NA NA NA 0.167 NA 3.8956 1262 19 22654504 22654504 G A intergenic ZNF98,LOC440518 dist=49356;dist=124555 NA NA ncRNA_exonic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs117922051 0.08 0.08 0.054 0.0932508 0.1044 0.119 0.0764 0.0287 0.1544 0.09 0.09 0.1 0.04 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934979 NA NA NA NA NA 0.043 NA 3.8956 1262 19 53848640 53848640 C T intronic ZNF845 NA NA NA intronic ENSG00000213799 NA NA NA NA NA 19q13.42 NA NA NA NA rs73594764 0.12 0.12 0.112 0.128794 0.1044 0.1518 0.0865 0.1505 0.1309 0.11 0.14 0.09 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389209 NA NA NA NA NA 0.167 NA 3.8956 1262 22 24579945 24579945 G A intronic SUSD2 NA NA NA intronic ENSG00000099994 NA NA NA NA NA 22q11.23 NA NA NA NA rs13433653 0.15 0.15 0.156 0.124002 0.1044 0.3085 0.0461 0.0711 0.0808 0.1 0.33 0.05 0.08 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696267 NA NA NA NA NA 0.174 NA 3.8956 1262 1 41494222 41494222 G T ncRNA_exonic SLFNL1-AS1 NA NA NA intronic ENSG00000010803 NA NA NA NA NA 1p34.2 NA Name=Pol2,ZNF263 NA NA rs11578697 0.44 0.44 0.39 0.423922 0.4682 0.5655 0.572 0.1687 0.4724 0.46 0.56 0.58 0.17 0.4802 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963832 NA NA 0.489419 0.230595 NA 0.442 NA 3.8955143 1262 2 162091836 162091836 T C intronic TANK NA NA NA ncRNA_intronic ENSG00000235724 NA NA NA NA NA 2q24.2 Score=1000;Name=V$SRY_01 NA NA NA rs3754970 0.44 0.44 0.448 0.417532 0.4662 0.4157 0.5576 0.2489 0.498 0.49 0.44 0.53 0.3 0.48 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127509 NA NA 0.491744 0.302769 NA 0.384 NA 3.8953893 1262 16 23712183 23712183 A G intronic ERN2 NA NA NA UTR3 ENSG00000134398 ENST00000562562:c.*1166T>C NA NA NA NA 16p12.2 NA NA NA NA rs26763 0.42 0.42 0.419 0.445088 0.2714 0.497 0.3242 0.6936 0.32 0.27 0.48 0.29 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.670336 1.670336 NA NA NA NA 0.435 NA 3.8952667 1262 3 29530008 29530008 C T intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs3773022 0.08 0.08 0.091 0.0864617 0.0288 0.0258 0.1167 0.1929 0.0429 0.03 0.03 0.1 0.21 0.0518 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017569 NA NA 0.024186 0.164321 NA 0.087 NA 3.895214 1262 15 52420491 52420491 G T intronic GNB5 NA NA NA ncRNA_intronic ENSG00000259709 NA NA NA NA NA 15q21.2 NA NA NA NA rs12909161 0.13 0.13 0.094 0.13139 0.1233 0.1726 0.2608 0.0234 0.1513 0.12 0.16 0.25 0.03 0.1674 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378405 NA NA 0.147449 0.052392 NA 0.123 NA 3.8951843 1263 19 8122767 8122767 T C exonic CCL25 NA synonymous SNV CCL25:NM_001201359:exon5:c.T405C:p.S135S,CCL25:NM_005624:exon5:c.T408C:p.S136S exonic ENSG00000131142 NA synonymous SNV ENSG00000131142:ENST00000390669:exon4:c.T408C:p.S136S,ENSG00000131142:ENST00000253451:exon5:c.T405C:p.S135S NA NA 19p13.2 NA Name=USF2,USF-1 NA NA rs2303165 0.92 0.92 0.931 0.934704 0.9225 0.8938 0.8516 0.9985 0.9622 0.93 0.88 0.85 1 0.9221 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294578 NA NA 0.927408 0.984111 NA 0.87 NA 3.8946586 1263 1 158047657 158047657 G A intronic KIRREL NA NA NA intronic ENSG00000183853 NA NA NA NA NA 1q23.1 NA NA NA NA rs12133744 0.05 0.05 0.038 0.0393371 0.1054 NA 0.0648 0.0008 0.046 0.1 NA 0.07 NA NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751935 NA NA NA NA NA 0.174 NA 3.8946 1263 2 28825607 28825607 G A intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs67964454 0.06 0.06 0.04 0.038139 0.1054 NA 0.0634 0.0061 0.0337 0.11 NA 0.09 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596388 NA NA NA NA NA 0.007 NA 3.8946 1263 7 65872345 65872345 T G intergenic LINC00174,LOC493754 dist=6950;dist=146208 NA NA ncRNA_intronic ENSG00000251451 NA NA NA NA NA 7q11.21 NA NA NA NA rs778693 0.12 0.12 0.094 0.135383 0.1054 0.1508 0.2104 0.0575 0.2025 0.09 0.18 0.18 0.04 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.860479 NA NA NA NA NA 0.196 NA 3.8946 1263 10 31917344 31917344 A C intergenic ZEB1,ARHGAP12 dist=98602;dist=176982 NA NA downstream ENSG00000231855 NA NA NA Score=355;Name=lod=37 NA 10p11.22 NA NA NA NA rs4749689 0.53 0.53 0.52 0.55012 0.6054 0.6617 0.5519 0.2791 0.7434 0.63 0.66 0.51 0.25 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.333287 4.333287 NA NA NA NA 0.42 NA 3.8946 1263 11 55243632 55243632 C G intergenic OR4A15,OR4C15 dist=107238;dist=78151 NA NA ncRNA_exonic ENSG00000255294 NA NA NA NA NA 11q11 NA NA NA NA rs1783718 0.07 0.07 0.06 0.0507188 0.1054 0.0476 0.0706 0.0045 0.046 0.1 0.06 0.07 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005918 NA NA NA NA NA 0.101 NA 3.8946 1263 11 69071115 69071115 C T intergenic MYEOV,CCND1 dist=6361;dist=384758 NA NA ncRNA_exonic ENSG00000213275 NA NA NA NA NA 11q13.3 NA NA NA NA rs4930677 0.11 0.11 0.122 0.146765 0.1054 0.2401 0.0778 0.0439 0.2812 0.1 0.2 0.09 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38028 NA NA NA NA NA 0.138 NA 3.8946 1263 1 170521650 170521650 T G UTR3 GORAB NM_152281:c.*47T>G NA NA UTR3 ENSG00000120370 ENST00000367763:c.*47T>G,ENST00000498166:c.*1151T>G NA NA NA NA 1q24.2 NA NA NA NA rs7552922 0.14 0.14 0.152 0.197085 0.1382 0.119 0.1153 0.2322 0.3487 0.14 0.08 0.12 0.22 0.1597 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873927 NA NA 0.141193 0.218207 NA 0.174 NA 3.8942404 1263 6 32088475 32088475 G A intronic ATF6B NA NA NA intronic ENSG00000213676 NA NA NA NA NA 6p21.33 NA NA NA NA rs144251373 0.02 0.02 0.024 0.0183706 0.0507 0.002 0.0274 0.0008 0.0194 0.04 0.0035 0.02 NA 0.0551 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786016 NA 0.12 NA NA NA 0.007 NA 3.8942 1263 X 2835831 2835831 C T intronic ARSD NA NA NA intronic ENSG00000006756 NA NA NA NA NA Xp22.33 NA NA NA NA rs75490251 0.07 0.07 0.15739 NA NA NA NA NA NA 0.06 0.04 0.07 0.1 0.1058 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532016 NA NA NA NA NA NA NA 3.8942 1263 13 38357494 38357494 G A UTR5 TRPC4 NM_001135958:c.-24C>T,NM_001135957:c.-24C>T,NM_001135956:c.-24C>T,NM_003306:c.-24C>T,NM_001135955:c.-24C>T,NM_016179:c.-24C>T NA NA UTR5 ENSG00000133107 ENST00000379705:c.-24C>T,ENST00000338947:c.-24C>T,ENST00000379681:c.-24C>T,ENST00000426868:c.-24C>T,ENST00000379673:c.-24C>T,ENST00000358477:c.-24C>T,ENST00000355779:c.-24C>T,ENST00000447043:c.-24C>T NA NA NA NA 13q13.3 NA NA NA NA rs12583681 0.12 0.12 0.088 0.102636 0.1511 0.0556 0.2061 0.0749 0.0654 0.15 0.04 0.2 0.08 0.1409 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.430493 1.430493 NA 0.147244 0.085565 NA 0.058 NA 3.8940894 1263 6 17849586 17849586 G C intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs56400999 0.02 0.02 0.015 0.00958466 0.0338 NA 0.013 NA 0.0051 0.04 NA 0.02 NA 0.0364 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353778 NA NA 0.035836 0.010795 NA 0.022 NA 3.893964 1263 12 3392351 3392351 A G UTR3 TSPAN9 NM_001168320:c.*69A>G,NM_006675:c.*69A>G NA NA UTR3 ENSG00000011105 ENST00000537971:c.*69A>G,ENST00000011898:c.*69A>G NA NA NA NA 12p13.32 NA NA NA NA rs632887 0.39 0.39 0.406 0.382588 0.4394 0.2014 0.428 0.5038 0.3149 0.42 0.21 0.48 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.246861 2.246861 NA NA NA NA 0.493 NA 3.8939334 1263 14 24428930 24428930 A G intronic DHRS4 NA NA NA ncRNA_intronic ENSG00000215256 NA NA NA NA NA 14q11.2 NA NA NA NA rs10140455 0.57 0.57 0.549 0.633187 0.4394 0.6925 0.6412 0.8101 0.5266 0.38 0.68 0.55 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281048 NA NA NA NA NA 0.029 NA 3.8939333 1263 4 102014919 102014919 T G intronic PPP3CA NA NA NA intronic ENSG00000138814 NA NA NA NA NA 4q24 NA NA NA NA rs41275733 0.02 0.02 0.014 0.0217652 0.0368 NA 0.0331 0.0023 0.047 0.03 NA 0.04 0.01 0.0321 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177409 NA NA 0.037209 0.006355 NA 0.043 NA 3.893891 1263 1 108307636 108307636 G C intronic VAV3 NA NA NA intronic ENSG00000134215 NA NA NA NA NA 1p13.3 NA NA NA NA rs12735293 0.06 0.06 0.045 0.0493211 0.1064 NA 0.0893 0.0061 0.0716 0.11 NA 0.1 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546338 NA NA NA NA NA 0.036 NA 3.8936 1263 3 367825 367825 G T intronic CHL1 NA NA NA intronic ENSG00000134121 NA NA NA NA NA 3p26.3 NA NA NA NA rs13073026 0.05 0.05 0.052 0.0397364 0.1064 0.003 0.0591 0.0121 0.0327 0.1 0.01 0.07 0.01 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15041 NA NA NA NA NA 0.036 NA 3.8936 1263 5 161318132 161318132 A G intronic GABRA1 NA NA NA intronic ENSG00000022355 NA NA NA NA NA 5q34 NA NA NA NA rs10051659 0.21 0.21 0.203 0.221645 0.1064 0.2639 0.1037 0.3404 0.2198 0.11 0.28 0.11 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697553 NA NA NA NA NA 0.138 NA 3.8936 1263 5 169445782 169445782 A G intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA NA NA rs17738455 0.14 0.14 0.112 0.128395 0.1064 0.0754 0.2738 0.1309 0.0992 0.11 0.09 0.23 0.16 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55058 NA NA NA NA NA 0.109 NA 3.8936 1263 7 65444288 65444288 G C intronic GUSB NA NA NA intronic ENSG00000169919 NA NA NA NA NA 7q11.21 NA NA NA NA rs906134 0.12 0.12 0.107 0.142173 0.1064 0.1468 0.2133 0.0825 0.2045 0.09 0.18 0.18 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357852 NA NA NA NA NA 0.203 NA 3.8936 1263 8 27657349 27657349 T C intronic ESCO2 NA NA NA intronic ENSG00000171320 NA NA NA NA NA 8p21.1 NA NA NA NA rs72609979 0.19 0.19 0.189 0.199681 0.1064 0.3611 0.0951 0.202 0.2004 0.09 0.36 0.1 0.19 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097317 NA NA NA NA NA 0.225 NA 3.8936 1263 12 52961318 52961318 C T intronic KRT74 NA NA NA intronic ENSG00000170484 NA NA NA NA NA 12q13.13 NA NA NA NA rs74095143 0.08 0.08 0.072 0.0770767 0.1064 0.0159 0.0677 0.1256 0.0511 0.1 0.02 0.09 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345704 NA NA NA NA NA 0.072 NA 3.8936 1263 12 127804383 127804383 T G intergenic LOC440117,FLJ37505 dist=445147;dist=561779 NA NA ncRNA_exonic ENSG00000256496 NA NA NA NA NA 12q24.32 NA NA NA NA rs2255354 0.11 0.11 0.119 0.110224 0.1064 0.002 0.0793 0.2648 0.0389 0.09 NA 0.1 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.298399 NA NA NA NA NA 0.152 NA 3.8936 1263 16 56872722 56872722 C T intronic NUP93 NA NA NA intronic ENSG00000102900 NA NA NA NA NA 16q13 NA NA NA NA rs3764265 0.13 0.13 0.135 0.148163 0.1064 0.1429 0.0821 0.174 0.2086 0.09 0.16 0.1 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336034 NA NA NA NA NA 0.13 NA 3.8936 1263 21 43838403 43838403 T A intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA NA NA NA rs9974660 0.23 0.23 0.228 0.210463 0.1064 0.2708 0.1988 0.3654 0.0542 0.12 0.28 0.18 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248253 NA NA NA NA NA 0.261 NA 3.8936 1263 1 16342237 16342237 A G exonic HSPB7 NA synonymous SNV HSPB7:NM_014424:exon3:c.T351C:p.T117T exonic ENSG00000173641 NA synonymous SNV ENSG00000173641:ENST00000311890:exon3:c.T351C:p.T117T,ENSG00000173641:ENST00000406363:exon3:c.T363C:p.T121T,ENSG00000173641:ENST00000411503:exon3:c.T336C:p.T112T,ENSG00000173641:ENST00000463576:exon3:c.T213C:p.T71T,ENSG00000173641:ENST00000487046:exon3:c.T366C:p.T122T,ENSG00000173641:ENST00000375718:exon4:c.T576C:p.T192T NA NA 1p36.13 NA NA NA NA rs1739840 0.64 0.64 0.643 0.652556 0.5944 0.7639 0.4582 0.7216 0.6421 0.58 0.75 0.49 0.71 0.5938 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50091 NA NA 0.585136 0.697004 NA 0.674 NA 3.8933306 1263 7 149510936 149510936 C T intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs62492760 0.18 0.18 0.156 0.165735 0.1451 0.2421 0.1383 0.2005 0.0808 0.14 0.23 0.13 0.21 0.1505 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460589 NA NA 0.144668 0.165381 NA 0.21 NA 3.8930653 1263 22 29414001 29414001 A G intronic ZNRF3 NA NA NA ncRNA_intronic ENSG00000235786 NA NA NA Score=259;Name=lod=15 NA 22q12.1 NA NA NA NA rs2347790 0.44 0.44 0.422 0.398163 0.4881 0.4345 0.4899 0.2799 0.363 0.49 0.45 0.48 0.33 0.4555 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184102 NA NA 0.496735 0.335616 NA 0.587 NA 3.8929983 1263 3 64145759 64145759 T C intronic PRICKLE2 NA NA NA intronic ENSG00000163637 NA NA NA NA NA 3p14.1 NA NA NA NA rs2306380 0.31 0.31 0.281 0.302316 0.3907 0.2371 0.2104 0.3253 0.3129 0.39 0.21 0.25 0.35 0.3353 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.186583 NA NA 0.381047 0.31094 NA 0.341 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118059.2;CLNDSDB=.;CLNDSDBID=. 3.892953 1263 2 20402380 20402380 C G UTR3 SDC1 NM_002997:c.*147G>C,NM_001006946:c.*147G>C NA NA UTR3 ENSG00000115884 ENST00000254351:c.*147G>C,ENST00000381150:c.*147G>C NA NA NA NA 2p24.1 NA NA NA NA rs1131351 0.37 0.37 0.332 0.376997 0.4404 0.4167 0.4121 0.2224 0.455 0.44 0.37 0.4 0.26 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.861099 2.861099 NA NA NA NA 0.413 NA 3.8929334 1263 2 182763586 182763586 G A intronic SSFA2 NA NA NA intronic ENSG00000138434 NA NA NA NA NA 2q31.3 NA NA NA NA rs3731693 0.07 0.07 0.077 0.0846645 0.0348 0.0843 0.0418 0.1241 0.1135 0.03 0.11 0.04 0.12 0.0487 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053885 NA NA 0.02361 0.121198 NA 0.065 NA 3.89289 1263 10 27444328 27444328 C A UTR5 MASTL NM_032844:c.-28C>A,NM_001172303:c.-28C>A,NM_001172304:c.-28C>A NA NA UTR5 ENSG00000120539 ENST00000375946:c.-28C>A,ENST00000342386:c.-28C>A,ENST00000375940:c.-28C>A NA NA NA NA 10p12.1 NA Name=TBP,IRF1,Nrf1,CCNT2,c-Myc,HEY1,NFKB,c-Jun,HA-E2F1,Sin3Ak-20,Pol2-4H8,RFX5_(N-494),YY1,JunD,TAF7_(SQ-8),YY1_(C-20),BRCA1_(C-1863),E2F6,NRSF,SP1,Pol2,MEF2C_(SC-13268),TCF4,E2F4,GABP,HMGN3,E2F6_(H-50),TAF1 NA NA rs7919803 0.5 0.5 0.175 0.505391 0.6024 0.4375 0.5231 0.5265 0.4346 0.58 0.38 0.53 0.5 0.6445 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637445 1.637445 NA 0.193552 0.116799 NA NA NA 3.8928814 1263 9 74840586 74840586 C A intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA NA NA NA rs11143178 0.03 0.03 0.022 0.0185703 0.0378 NA 0.0317 0.0234 0.002 0.03 NA 0.05 0.03 0.0264 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039968 NA NA 0.043031 0.025933 NA 0.029 NA 3.892769 1263 2 182783994 182783994 C A intronic SSFA2 NA NA NA intronic ENSG00000138434 NA NA NA NA NA 2q31.3 NA NA NA NA rs2288330 0.07 0.07 0.071 0.0844649 0.0348 0.0843 0.0403 0.1241 0.1135 0.03 0.11 0.04 0.12 0.0488 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239982 NA NA 0.023721 0.120517 NA 0.051 NA 3.892679 1263 1 149039930 149039930 A G intergenic LOC645166,LOC388692 dist=86876;dist=239546 NA NA ncRNA_intronic ENSG00000203825 NA NA NA NA NA 1q21.2 NA NA NA NA rs7545679 0.22 0.22 0.199 0.232827 0.1074 0.4563 0.2305 0.1687 0.2198 0.1 0.46 0.2 0.16 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123726 NA NA NA NA NA 0.174 NA 3.8926 1263 2 17948034 17948034 A G intronic GEN1 NA NA NA intronic ENSG00000163029,ENSG00000178295 NA NA NA NA NA 2p24.2 NA NA NA NA rs16983838 0.13 0.13 0.125 0.127396 0.1074 0.0337 0.1153 0.2436 0.0961 0.11 0.03 0.12 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691855 NA NA NA NA NA 0.109 NA 3.8926 1263 4 122258149 122258149 T G intronic QRFPR NA NA NA intronic ENSG00000186867 NA NA NA NA NA 4q27 NA NA NA NA rs2302308 0.08 0.08 0.063 0.0736821 0.1074 0.1131 0.0648 0.0182 0.0798 0.11 0.09 0.06 0.02 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376064 NA NA NA NA NA 0.036 NA 3.8926 1263 6 7414739 7414739 C T intronic RIOK1 NA NA NA intronic ENSG00000124784 NA NA NA NA NA 6p24.3 NA NA NA NA rs2296258 0.17 0.17 0.16 0.151957 0.1074 0.3105 0.2233 0.0484 0.1237 0.09 0.34 0.2 0.06 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507275 NA NA NA NA NA 0.13 NA 3.8926 1263 8 9437546 9437546 C T intronic TNKS NA NA NA intronic ENSG00000173273 NA NA NA NA NA 8p23.1 NA NA NA NA rs62493904 0.14 0.14 0.111 0.144768 0.1074 0.2222 0.268 0.0688 0.1186 0.1 0.19 0.19 0.09 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08639 NA NA NA NA NA 0.101 NA 3.8926 1263 9 82478835 82478835 G A intergenic TLE4,TLE1 dist=137179;dist=1719763 NA NA ncRNA_exonic ENSG00000238002 NA NA NA NA NA 9q21.31 NA NA NA NA rs7023231 0.16 0.16 0.161 0.161342 0.1074 0.0784 0.0793 0.3812 0.0634 0.11 0.08 0.08 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474125 NA NA NA NA NA 0.145 NA 3.8926 1263 11 81701953 81701953 G A intergenic MIR4300,FAM181B dist=100075;dist=741093 NA NA ncRNA_intronic ENSG00000245832 NA NA NA NA NA 11q14.1 NA NA NA NA rs12577531 0.11 0.11 0.081 0.108027 0.1074 0.251 0.0793 0.0045 0.1217 0.11 0.19 0.08 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760089 NA NA NA NA NA 0.159 NA 3.8926 1263 11 105795065 105795065 T C intronic GRIA4 NA NA NA intronic ENSG00000152578 NA NA NA NA NA 11q22.3 NA NA NA NA rs3758795 0.11 0.11 0.082 0.10603 0.1074 0.1478 0.2421 0.034 0.0624 0.11 0.12 0.22 0.03 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.038129 NA NA NA NA NA 0.08 NA 3.8926 1263 18 677621 677621 T G intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA NA NA rs2298582 0.09 0.09 0.093 0.0784744 0.1074 0.0694 0.072 0.056 0.093 0.11 0.06 0.09 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702335 NA NA NA NA NA 0.116 NA 3.8926 1263 19 35126605 35126605 A G intergenic SCGB2B2,SCGB2B3P dist=41115;dist=10173 NA NA ncRNA_exonic ENSG00000271049 NA NA NA NA NA 19q13.11 NA NA NA NA rs733998 0.06 0.06 0.059 0.0798722 0.1074 NA 0.0591 0.0522 0.1861 0.11 NA 0.06 0.06 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534236 NA NA NA NA NA 0.072 NA 3.8926 1263 6 91246007 91246007 T A intronic MAP3K7 NA NA NA intronic ENSG00000135341 NA NA NA NA NA 6q15 NA NA NA NA rs9345029 0.03 0.03 0.033 0.0363419 0.0487 0.0407 0.0317 0.0151 0.0511 0.05 0.03 0.02 0.02 0.0297 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312158 NA NA 0.029077 0.017703 NA 0.029 NA 3.892523 1263 10 27356071 27356071 T C intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs115864032 0.02 0.02 0.015 0.024361 0.0388 0.004 0.0274 0.0265 0.0256 0.04 0.0017 0.04 0.01 0.032 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007122 NA NA 0.03691 0.030212 NA 0.014 NA 3.89229 1263 1 156352447 156352447 G T intronic RHBG NA NA NA UTR3 ENSG00000132677 ENST00000537040:c.*378G>T NA NA NA NA 1q22 NA NA NA NA rs954916 0.31 0.31 0.284 0.304513 0.2744 0.3522 0.3718 0.2731 0.2812 0.27 0.35 0.4 0.26 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368376 NA NA NA NA NA 0.333 NA 3.8922667 1263 12 6690190 6690190 A C intronic CHD4 NA NA NA ncRNA_intronic ENSG00000247853 NA NA NA NA NA 12p13.31 NA NA NA NA rs55670476 0.12 0.12 0.107 0.123802 0.1372 0.004 0.0764 0.2118 0.1483 0.13 0.0017 0.1 0.23 0.1383 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067198 NA NA 0.165581 0.194507 NA 0.138 NA 3.8922523 1263 22 22707429 22707429 T C intergenic LOC96610,ZNF280B dist=30105;dist=131343 NA NA intronic ENSG00000211647 NA NA NA NA NA 22q11.22 NA Name=Pol2 NA NA rs73153802 0.2 0.2 0.196 0.195887 0.2217 0.2024 0.1585 0.1785 0.2127 0.24 0.2 0.15 0.19 0.3436 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734579 NA NA 0.209115 0.184722 NA 0.123 NA 3.8922517 1263 6 123539685 123539685 T C UTR3 TRDN NM_006073:c.*61A>G NA NA UTR3 ENSG00000186439 ENST00000398178:c.*61A>G,ENST00000334268:c.*61A>G NA NA NA NA 6q22.31 NA NA NA NA rs1259 0.36 0.36 NA 0.465256 0.4414 0.371 0.5836 0.5855 0.3405 0.33 0.29 0.46 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922826 NA NA NA NA NA NA NA 3.8919334 1263 11 130748131 130748131 A G UTR3 SNX19 NM_014758:c.*186T>C NA NA UTR3 ENSG00000120451 ENST00000265909:c.*186T>C,ENST00000534726:c.*186T>C,ENST00000545537:c.*186T>C,ENST00000426933:c.*186T>C NA NA NA NA 11q24.3 NA NA NA NA rs3190331 0.44 0.44 0.419 0.48123 0.4414 0.4812 0.562 0.3744 0.6094 0.45 0.46 0.52 0.36 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.104766 NA NA NA NA NA 0.319 NA 3.8919334 1263 19 5843609 5843609 T C UTR3 FUT3 NM_001097641:c.*156A>G,NM_001097640:c.*156A>G,NM_001097639:c.*156A>G,NM_000149:c.*156A>G NA NA UTR3 ENSG00000171124 ENST00000458379:c.*156A>G,ENST00000589620:c.*156A>G,ENST00000303225:c.*156A>G,ENST00000589918:c.*156A>G NA NA NA NA 19p13.3 NA NA NA NA rs874232 0.5 0.5 0.449 0.526757 0.4414 0.7083 0.5706 0.3654 0.6145 0.44 0.68 0.54 0.36 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207988 NA NA NA NA NA 0.116 NA 3.8919334 1263 5 176002144 176002144 A C exonic CDHR2 NA synonymous SNV CDHR2:NM_001171976:exon8:c.A555C:p.I185I,CDHR2:NM_017675:exon8:c.A555C:p.I185I exonic ENSG00000074276 NA synonymous SNV ENSG00000074276:ENST00000506348:exon7:c.A555C:p.I185I,ENSG00000074276:ENST00000261944:exon8:c.A555C:p.I185I,ENSG00000074276:ENST00000510636:exon8:c.A555C:p.I185I NA NA 5q35.2 Score=878;Name=V$ZID_01 NA NA NA rs4242200 0.87 0.87 0.848 0.841653 0.9274 0.8403 0.902 0.7504 0.8354 0.93 0.84 0.93 0.76 0.9033 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317295 NA NA 0.944186 0.775533 NA 0.783 NA 3.8917806 1263 1 32156940 32156940 C A intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297680 0.14 0.14 0.105 0.20008 0.1083 0.1488 0.3545 0.0825 0.3967 0.11 0.17 0.26 0.07 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602979 NA NA NA NA NA 0.159 NA 3.8917 1263 1 201030668 201030668 G A intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs2297904 0.27 0.27 0.271 0.265775 0.1083 0.4335 0.1772 0.3464 0.2086 0.11 0.45 0.18 0.36 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526289 NA NA NA NA NA 0.196 NA 3.8917 1263 1 227696002 227696002 A G intergenic CDC42BPA,ZNF678 dist=190176;dist=55218 NA NA downstream ENSG00000235827 NA NA NA Score=840;Name=lod=3452 NA 1q42.13 NA NA NA NA rs2018828 0.49 0.49 0.426 0.461861 0.6083 0.4127 0.5749 0.3268 0.4642 0.61 0.45 0.55 0.32 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288429 NA NA NA NA NA 0.457 NA 3.8917 1263 3 64627448 64627448 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs9832057 0.28 0.28 0.263 0.332668 0.1083 0.2659 0.3329 0.6188 0.2454 0.1 0.24 0.28 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015717 NA NA NA NA NA 0.261 NA 3.8917 1263 4 3188265 3188265 C T intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs363093 0.17 0.17 0.186 0.189497 0.1083 0.0089 0.1225 0.4849 0.1074 0.11 0.0035 0.12 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295736 NA NA NA NA NA 0.167 NA 3.8917 1263 5 94903527 94903527 T C intronic ARSK NA NA NA intronic ENSG00000164291 NA NA NA NA NA 5q15 NA NA NA NA rs73777227 0.13 0.13 0.131 0.138179 0.1083 0.0109 0.1095 0.3185 0.0767 0.11 0.0035 0.14 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.030321 3.030321 NA NA NA NA 0.239 NA 3.8917 1263 7 139724742 139724742 G C intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs3735351 0.06 0.06 0.06 0.047524 0.1083 0.0357 0.0576 0.0204 0.0266 0.1 0.04 0.07 0.02 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18164 NA NA NA NA NA 0.036 NA 3.8917 1263 11 68331663 68331663 G A intronic PPP6R3 NA NA NA intronic ENSG00000110075 NA NA NA NA NA 11q13.2 NA NA NA NA rs12804775 0.05 0.05 0.042 0.0459265 0.1083 0.001 0.049 0.0023 0.0849 0.11 0.0017 0.07 0.002 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848328 NA NA NA NA NA 0.014 NA 3.8917 1263 11 73106408 73106408 C T intronic RELT NA NA NA intronic ENSG00000054967 NA NA NA NA NA 11q13.4 NA NA NA NA rs7112924 0.13 0.13 0.139 0.14357 0.1083 0.0099 0.0807 0.3548 0.0767 0.11 0.01 0.07 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406027 NA NA NA NA NA 0.232 NA 3.8917 1263 19 33453821 33453821 T C intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs55983014 0.14 0.14 0.124 0.161342 0.1083 0.2698 0.1311 0.0764 0.2403 0.09 0.26 0.15 0.08 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122745 NA NA NA NA NA 0.138 NA 3.8917 1263 22 43455592 43455592 G A intronic TTLL1 NA NA NA intronic ENSG00000100271 NA NA NA NA NA 22q13.2 NA NA NA NA rs17415203 0.07 0.07 0.066 0.0585064 0.1083 0.0129 0.0663 0.0575 0.0501 0.11 0.01 0.09 0.05 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598149 NA NA NA NA NA 0.123 NA 3.8917 1263 3 45132637 45132637 T C intronic CDCP1 NA NA NA intronic ENSG00000163814 NA NA NA NA NA 3p21.31 NA Name=KAP1 NA NA rs1879240 0.29 0.29 0.299 0.297524 0.3857 0.2272 0.2983 0.2057 0.4029 0.41 0.19 0.29 0.22 0.3427 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107475 NA NA 0.380116 0.231713 NA 0.225 NA 3.891484 1263 15 45669094 45669094 G A intronic GATM NA NA NA UTR5 ENSG00000171766 ENST00000559885:c.-7474C>T NA NA NA NA 15q21.1 NA NA NA NA rs12437887 0.46 0.46 0.426 0.44349 0.2753 0.8065 0.5202 0.3169 0.3589 0.27 0.85 0.46 0.28 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222342 NA NA NA NA NA 0.304 NA 3.8913667 1263 1 45220566 45220566 C A intronic KIF2C NA NA NA intronic ENSG00000142945 NA NA NA NA NA 1p34.1 NA NA NA NA rs76670103 0.03 0.03 0.029 0.0235623 0.0358 NA 0.0519 0.0303 0.0061 0.04 NA 0.06 0.04 0.0304 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.129469 NA NA 0.042442 0.032031 NA 0.043 NA 3.891358 1263 14 107114009 107114009 T C intergenic LINC00221,NONE dist=162480;dist=NONE NA NA exonic ENSG00000223648 NA nonsynonymous SNV ENSG00000223648:ENST00000454421:exon2:c.A86G:p.E29G NA NA 14q32.33 NA NA NA NA rs11846079 0.57 0.57 0.522 0.629393 0.3897 0.5337 0.4683 0.9206 0.6953 0.42 0.52 0.54 0.89 0.5524 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.21778 NA 1 NA NA NA 0.551 NA 3.8912334 1263 10 50943186 50943186 C T UTR3 OGDHL NM_001143997:c.*88G>A,NM_001143996:c.*88G>A,NM_018245:c.*88G>A NA NA UTR3 ENSG00000197444 ENST00000374103:c.*88G>A,ENST00000432695:c.*88G>A,ENST00000419399:c.*88G>A NA NA NA NA 10q11.23 NA NA NA NA rs1258256 0.48 0.48 0.391 0.429712 0.4423 0.8839 0.4669 0.0522 0.4325 0.44 0.88 0.51 0.07 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395001 NA NA NA NA NA 0.29 NA 3.8910334 1263 1 24408015 24408015 C G intronic MYOM3 NA NA NA ncRNA_intronic ENSG00000225315,ENSG00000230703 NA NA NA NA NA 1p36.11 NA NA NA NA rs10903090 0.4 0.4 0.391 0.366813 0.4423 0.4266 0.3501 0.3654 0.2413 0.45 0.43 0.34 0.35 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227434 NA NA NA NA NA 0.348 NA 3.8910333 1263 18 43253100 43253100 C T intronic SLC14A2 NA NA NA ncRNA_intronic ENSG00000267193 NA NA NA NA NA 18q12.3 NA NA NA NA rs1000501 0.46 0.46 0.476 0.472644 0.4423 0.369 0.415 0.5832 0.502 0.45 0.4 0.38 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.987883 NA NA NA NA NA 0.37 NA 3.8910333 1263 1 24768469 24768469 G A intronic NIPAL3 NA NA NA intronic ENSG00000001461 NA NA NA NA NA 1p36.11 NA NA NA NA rs11582625 0.11 0.11 0.121 0.119609 0.1093 0.006 0.1081 0.2428 0.089 0.12 0.01 0.11 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08204 NA NA NA NA NA 0.087 NA 3.8907 1263 2 30756265 30756265 G A intronic LCLAT1 NA NA NA intronic ENSG00000172954 NA NA NA NA NA 2p23.1 NA NA NA NA rs829625 0.11 0.11 0.116 0.0950479 0.1093 0.1359 0.0403 0.0961 0.0757 0.12 0.12 0.05 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351591 NA NA NA NA NA 0.181 NA 3.8907 1263 2 87000387 87000387 T G intronic RMND5A NA NA NA intronic ENSG00000153561 NA NA NA NA NA 2p11.2 NA NA NA NA rs67856656 0.11 0.11 0.118 0.0924521 0.1093 0.0843 0.0562 0.1445 0.0389 0.12 0.08 0.05 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537243 NA NA NA NA NA 0.152 NA 3.8907 1263 7 30701914 30701914 G A intronic CRHR2 NA NA NA intronic ENSG00000106113 NA NA NA NA NA 7p14.3 NA NA NA NA rs4723000 0.15 0.15 0.15 0.180112 0.1093 0.1696 0.1182 0.2458 0.2188 0.09 0.15 0.13 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327665 NA NA NA NA NA 0.246 NA 3.8907 1263 14 65418475 65418475 G C intronic CHURC1-FNTB,RAB15 NA NA NA intronic ENSG00000125954,ENSG00000139998 NA NA NA NA NA 14q23.3 NA NA NA NA rs17752452 0.08 0.08 0.084 0.0565096 0.1093 0.0784 0.072 0.0227 0.0143 0.12 0.09 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655537 NA NA NA NA NA 0.022 NA 3.8907 1263 17 76471679 76471679 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs999430 0.13 0.13 0.14 0.158347 0.1093 0.1895 0.0965 0.177 0.1953 0.11 0.18 0.1 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533038 NA NA NA NA NA 0.116 NA 3.8907 1263 19 41600800 41600800 C T intronic CYP2A13 NA NA NA intronic ENSG00000197838 NA NA NA NA NA 19q13.2 NA NA NA NA rs1709081 0.2 0.2 0.163 0.23143 0.1093 0.0685 0.2738 0.4743 0.1667 0.11 0.06 0.22 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.962017 NA NA NA NA NA 0.225 NA 3.8907 1263 19 54722039 54722039 C T intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs112913349 0.13 0.13 0.087 0.142173 0.1093 0.002 0.134 0.3328 0.0685 0.1 0.0035 0.12 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994952 NA NA NA NA NA 0.123 NA 3.8907 1263 19 54722095 54722095 G A intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs112224147 0.13 0.13 0.136 0.145966 0.1093 0.002 0.1311 0.3487 0.0685 0.1 0.0035 0.11 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075346 NA NA NA NA NA 0.101 NA 3.8907 1263 19 56163704 56163704 C T intronic CCDC106 NA NA NA intronic ENSG00000173581 NA NA NA NA NA 19q13.42 NA NA NA NA rs73062531 0.05 0.05 0.065 0.0541134 0.1093 0.0069 0.072 0.0159 0.0849 0.09 0.01 0.08 0.03 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448316 NA NA NA NA NA 0.116 NA 3.8907 1263 4 100048509 100048509 T C ncRNA_intronic LOC100507053 NA NA NA ncRNA_intronic ENSG00000246090 NA NA NA NA NA 4q23 NA NA NA NA rs6813415 0.14 0.14 0.133 0.117013 0.2773 NA 0.1729 0.0688 0.0982 0.27 NA 0.19 0.07 0.2103 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346624 NA NA 0.288372 0.10985 NA 0.225 NA 3.8906946 1263 11 7817420 7817420 T A downstream OR5P2 NA NA NA ncRNA_intronic ENSG00000254951,ENSG00000271758 NA NA NA NA NA 11p15.4 NA NA NA NA rs7949546 0.27 0.27 0.255 0.236821 0.2763 0.129 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542649 NA NA NA NA NA 0.254 NA 3.8903666 1263 11 7817434 7817434 C T downstream OR5P2 NA NA NA ncRNA_intronic ENSG00000254951,ENSG00000271758 NA NA NA NA NA 11p15.4 NA NA NA NA rs7931990 0.27 0.27 0.27 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332431 NA NA NA NA NA 0.254 NA 3.8903666 1263 18 44561795 44561795 C T UTR5 TCEB3B NM_016427:c.-160G>A NA NA UTR5 ENSG00000206181 ENST00000332567:c.-160G>A NA NA NA NA 18q21.1 NA NA NA NA rs2571026 0.51 0.51 0.504 0.533746 0.4433 0.6448 0.6225 0.4342 0.5838 0.44 0.63 0.58 0.43 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048341 NA NA NA NA NA 0.312 NA 3.8900334 1263 1 12316584 12316584 A G intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs235246 0.07 0.07 0.046 0.08127 0.0209 0.0198 0.1297 0.1536 0.0746 0.03 0.01 0.1 0.16 0.06 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469169 NA NA 0.029186 0.14276 NA 0.065 NA 3.889914 1263 1 179054692 179054692 T G intronic TOR3A NA NA NA UTR5 ENSG00000186283 ENST00000447595:c.-22T>G NA NA NA NA 1q25.2 NA NA Name=3 NA rs912758 0.69 0.69 0.687 0.684305 0.6332 0.6091 0.5317 0.9259 0.5961 0.65 0.63 0.57 0.91 0.6436 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612931 NA NA NA NA NA 0.826 NA 3.8898667 1263 3 64627752 64627752 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs7632802 0.27 0.27 0.252 0.319289 0.1103 0.2827 0.3343 0.553 0.2454 0.1 0.26 0.28 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.731958 NA NA NA NA NA 0.261 NA 3.8897 1263 5 7899909 7899909 G C intronic MTRR NA NA NA intronic ENSG00000124275 NA NA NA NA NA 5p15.31 NA NA NA NA rs10520874 0.2 0.2 0.194 0.225439 0.1103 0.1677 0.3242 0.3676 0.1411 0.1 0.18 0.27 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03139 NA NA NA NA NA 0.29 NA 3.8897 1263 10 48416258 48416258 C T intronic GDF2 NA NA NA intronic ENSG00000128802 NA NA NA NA NA 10q11.22 NA NA NA NA rs3781226 0.09 0.09 0.081 0.0844649 0.1103 0.1538 0.0504 0.0076 0.1145 0.11 0.16 0.06 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.153007 NA NA NA NA NA 0.08 NA 3.8897 1263 10 106924208 106924208 A G intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs12249990 0.06 0.06 0.07 0.0632987 0.1103 0.0278 0.0605 0.0378 0.0879 0.1 0.01 0.07 0.04 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01711 NA NA NA NA NA 0.08 NA 3.8897 1263 12 101779280 101779280 T C intronic UTP20 NA NA NA intronic ENSG00000120800 NA NA NA NA NA 12q23.2 NA NA NA NA rs117760932 0.05 0.05 0.046 0.0405351 0.1103 0.003 0.049 0.0038 0.0511 0.11 0.0035 0.06 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422585 NA NA NA NA NA 0.022 NA 3.8897 1263 17 45095080 45095080 T G intergenic RPRML,CDC27 dist=38466;dist=100231 NA NA ncRNA_exonic ENSG00000263142 NA NA NA NA NA 17q21.32 NA NA NA NA rs2941962 0.09 0.09 0.1 0.129593 0.1103 0.1429 0.1326 0.0552 0.2342 0.08 0.13 0.09 0.06 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192791 NA NA NA NA NA NA NA 3.8897 1263 17 45137192 45137192 G A intergenic RPRML,CDC27 dist=80578;dist=58119 NA NA ncRNA_intronic ENSG00000262879 NA NA NA NA NA 17q21.32 NA NA NA NA rs11649831 0.11 0.11 0.092 0.129393 0.1103 0.1429 0.1311 0.0552 0.2342 0.11 0.15 0.12 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448188 NA NA NA NA NA 0.08 NA 3.8897 1263 19 579713 579713 C T intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA NA NA rs12609013 0.15 0.15 0.138 0.188898 0.1103 0.2292 0.0908 0.2095 0.2699 0.11 0.2 0.11 0.19 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236373 NA NA NA NA NA 0.109 NA 3.8897 1263 19 41601609 41601609 T G intronic CYP2A13 NA NA NA intronic ENSG00000197838 NA NA NA NA NA 19q13.2 NA NA NA NA rs1709082 0.17 0.17 0.153 0.202676 0.1103 0.0685 0.2622 0.3707 0.1667 0.11 0.06 0.21 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01916 NA NA NA NA NA 0.196 NA 3.8897 1263 19 54722911 54722911 T C intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs76887317 0.13 0.13 0.127 0.144169 0.1103 0.002 0.134 0.3396 0.0685 0.1 0.0035 0.12 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10396 NA NA NA NA NA 0.145 NA 3.8897 1263 18 43316538 43316538 A G exonic SLC14A1 NA synonymous SNV SLC14A1:NM_001146037:exon5:c.A756G:p.P252P,SLC14A1:NM_015865:exon6:c.A588G:p.P196P,SLC14A1:NM_001128588:exon7:c.A756G:p.P252P,SLC14A1:NM_001146036:exon7:c.A588G:p.P196P exonic ENSG00000141469 NA synonymous SNV ENSG00000141469:ENST00000589322:exon3:c.A192G:p.P64P,ENSG00000141469:ENST00000535474:exon4:c.A192G:p.P64P,ENSG00000141469:ENST00000586142:exon4:c.A588G:p.P196P,ENSG00000141469:ENST00000589700:exon4:c.A588G:p.P196P,ENSG00000141469:ENST00000590246:exon4:c.A273G:p.P91P,ENSG00000141469:ENST00000402943:exon5:c.A273G:p.P91P,ENSG00000141469:ENST00000436407:exon5:c.A756G:p.P252P,ENSG00000141469:ENST00000502059:exon5:c.A264G:p.P88P,ENSG00000141469:ENST00000321925:exon6:c.A588G:p.P196P,ENSG00000141469:ENST00000415427:exon7:c.A756G:p.P252P NA NA 18q12.3 NA NA NA NA rs2298718 0.71 0.71 0.691 0.711262 0.5865 0.9315 0.7464 0.646 0.6759 0.58 0.92 0.73 0.64 0.6357 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393639 NA NA 0.554767 0.633227 ID=COSM1480332,COSM438130;OCCURENCE=1(breast) 0.638 NA 3.8896996 1263 22 20128880 20128880 G A intronic ZDHHC8 NA NA NA intronic ENSG00000099904 NA NA NA NA NA 22q11.21 NA NA NA NA rs2286930 0.05 0.05 NA 0.0625 0.0537 0.0833 0.0115 0.0484 0.1053 0.06 0.07 0.01 0.04 0.0569 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.441559 NA NA NA NA NA 0.007 NA 3.8894 1263 22 20128881 20128881 A C intronic ZDHHC8 NA NA NA intronic ENSG00000099904 NA NA NA NA NA 22q11.21 NA NA NA NA rs2286931 0.05 0.05 NA 0.0623003 0.0537 0.0823 0.0115 0.0484 0.1053 0.06 0.07 0.01 0.04 0.0569 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.573895 NA NA NA NA NA NA NA 3.8894 1263 3 148899775 148899775 C T intronic CP NA NA NA intronic ENSG00000047457 NA NA NA NA NA 3q24 NA NA NA NA rs35593818 0.02 0.02 0.017 0.0189696 0.0368 0.001 0.0259 0.0091 0.0276 0.03 0.0017 0.03 0.02 0.0322 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.130242 NA NA 0.041628 0.011575 NA 0.072 NA 3.889372 1263 2 131266530 131266530 C A exonic POTEI NA synonymous SNV POTEI:NM_001277406:exon1:c.G279T:p.T93T exonic ENSG00000196834 NA synonymous SNV ENSG00000196834:ENST00000451531:exon1:c.G279T:p.T93T NA NA 2q21.1 NA NA NA NA rs10737928 0.84 0.84 0.831 0.858826 0.8738 0.9891 0.9063 0.652 0.955 0.86 0.95 0.86 0.68 0.9035 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428833 NA NA NA NA NA 0.029 NA 3.8893666 1263 4 8318199 8318199 A C intergenic HTRA3,ACOX3 dist=9361;dist=49810 NA NA intergenic ENSG00000170801,ENSG00000249145 dist=9361;dist=3704 NA NA NA NA 4p16.1 NA Name=ERalpha_a NA NA rs4696809 0.52 0.52 0.506 0.522364 0.4443 0.6399 0.5548 0.4955 0.4949 0.44 0.68 0.5 0.49 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514302 NA NA NA NA NA 0.493 NA 3.8890334 1263 21 46932383 46932383 G A UTR3 COL18A1 NM_130445:c.*71G>A,NM_030582:c.*71G>A NA NA UTR3 ENSG00000182871 ENST00000400337:c.*71G>A,ENST00000355480:c.*71G>A,ENST00000359759:c.*71G>A,ENST00000342220:c.*71G>A NA NA NA NA 21q22.3 NA NA NA NA rs8199 0.49 0.49 0.473 0.509385 0.4443 0.5625 0.4294 0.5567 0.5143 0.42 0.56 0.43 0.54 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671473 NA NA NA NA NA 0.442 NA 3.8890334 1263 4 166325831 166325831 A G intronic CPE NA NA NA ncRNA_exonic ENSG00000251596 NA NA NA NA NA 4q32.3 NA NA NA NA rs2241813 0.47 0.47 0.459 0.473243 0.4443 0.4623 0.3732 0.6172 0.3906 0.44 0.43 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569858 NA NA NA NA NA 0.507 NA 3.8890333 1263 12 3390867 3390867 T C intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA NA NA rs71577846 0.02 0.02 0.02 0.0175719 0.0417 NA 0.0259 NA 0.0286 0.05 NA 0.03 NA 0.0323 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100061 NA NA 0.036977 0.007944 NA 0.014 NA 3.889023 1263 13 113819005 113819005 C T intronic PROZ NA NA NA intronic ENSG00000126231 NA NA NA NA NA 13q34 NA NA NA NA rs45596441 0.02 0.02 0.014 0.0153754 0.0417 NA 0.0317 0.0015 0.0112 0.03 NA 0.03 0.002 0.0302 0.039 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20929 NA NA 0.039097 0.007263 NA 0.014 NA 3.889003 1263 1 79356939 79356939 A G intronic ELTD1 NA NA NA intronic ENSG00000162618 NA NA NA NA NA 1p31.1 NA NA NA NA rs17102364 0.02 0.02 0.025 0.0273562 0.0368 0.001 0.0259 0.028 0.045 0.04 NA 0.02 0.03 0.0369 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218375 NA NA 0.037584 0.026951 NA 0.036 NA 3.888716 1263 1 12901140 12901140 G T intergenic PRAMEF11,LOC649330 dist=9876;dist=6096 NA NA ncRNA_exonic ENSG00000231103 NA NA NA NA NA 1p36.21 NA NA NA NA rs112286527 0.06 0.06 0.062 0.0660942 0.1113 0.0188 0.0922 0.0272 0.1022 0.11 0.01 0.09 0.03 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033381 NA NA NA NA NA 0.036 NA 3.8887 1263 2 48936006 48936006 G A intronic LHCGR,STON1-GTF2A1L NA NA NA intronic ENSG00000068781,ENSG00000138039,ENSG00000242441 NA NA NA NA NA 2p16.3 NA NA NA NA rs73928211 0.09 0.09 0.085 0.0876597 0.1113 0.001 0.0965 0.1415 0.0736 0.11 NA 0.09 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666931 NA NA NA NA NA 0.087 NA 3.8887 1263 11 73141627 73141627 C G intronic FAM168A NA NA NA intronic ENSG00000054965 NA NA NA NA NA 11q13.4 NA NA NA NA rs11823913 0.18 0.18 0.173 0.203075 0.1113 0.0377 0.0994 0.5446 0.0798 0.11 0.04 0.09 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584795 NA NA NA NA NA 0.275 NA 3.8887 1263 12 120541570 120541570 G A intronic RAB35 NA NA NA intronic ENSG00000111737 NA NA NA NA NA 12q24.23 NA NA NA NA rs17499109 0.05 0.05 0.055 0.0403355 0.1113 0.001 0.0418 0.0068 0.0521 0.11 NA 0.04 0.02 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51534 NA NA NA NA NA 0.072 NA 3.8887 1263 16 20395868 20395868 C T intronic PDILT NA NA NA intronic ENSG00000169340 NA NA NA NA NA 16p12.3 NA NA NA NA rs9936599 0.11 0.11 0.104 0.107029 0.1113 0.0377 0.1037 0.18 0.0777 0.11 0.05 0.1 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418138 NA NA NA NA NA 0.123 NA 3.8887 1263 16 20395908 20395908 T C intronic PDILT NA NA NA intronic ENSG00000169340 NA NA NA NA NA 16p12.3 NA NA NA NA rs9926996 0.16 0.16 0.154 0.166933 0.1113 0.0744 0.1124 0.3169 0.1554 0.11 0.08 0.12 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555574 NA NA NA NA NA 0.203 NA 3.8887 1263 19 581253 581253 A C intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA NA NA rs113033881 0.14 0.14 0.083 0.213858 0.1113 0.2312 0.098 0.2988 0.2689 0.09 0.18 0.1 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242266 NA NA NA NA NA NA NA 3.8887 1263 19 11226944 11226944 C T intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA NA NA NA rs4508523 0.26 0.26 0.288 0.262979 0.1113 0.3591 0.1369 0.4357 0.1759 0.12 0.37 0.12 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483034 NA NA NA NA NA 0.246 NA 3.8887 1263 19 20067416 20067416 C T intergenic ZNF93,ZNF682 dist=21034;dist=47811 NA NA ncRNA_intronic ENSG00000267268 NA NA NA NA NA 19p12 NA NA NA NA rs73924111 0.22 0.22 0.216 0.242612 0.1113 0.1895 0.2262 0.4743 0.1309 0.12 0.16 0.2 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486669 NA NA NA NA NA 0.232 NA 3.8887 1263 11 47440758 47440758 G A intronic PSMC3 NA NA NA intronic ENSG00000165916 NA NA NA NA Name=Serum albumin level 11p11.2 NA NA NA NA rs2293579 0.29 0.29 0.3 0.318291 0.3698 0.3968 0.255 0.1157 0.5031 0.37 0.33 0.27 0.14 0.3556 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826916 NA NA 0.386342 0.165834 NA 0.254 NA 3.888258 1263 9 131591372 131591372 T A intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA NA NA NA rs2293967 0.04 0.04 0.042 0.0415335 0.0398 0.0476 0.0317 0.0499 0.0327 0.04 0.05 0.04 0.05 0.0371 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.382696 1.382696 NA 0.035 0.04857 NA 0.058 NA 3.8881 1263 12 9352945 9352945 A C intronic PZP NA NA NA intronic ENSG00000126838 NA NA NA NA NA 12p13.31 NA NA NA NA rs139073960 0.02 0.02 0.017 0.0205671 0.0527 NA 0.0259 0.0015 0.0307 0.05 NA 0.03 0.0041 0.0285 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258991 NA NA 0.030712 0.007717 NA 0.007 NA 3.888088 1263 3 33416935 33416935 T C intronic FBXL2 NA NA NA intronic ENSG00000153558 NA NA NA NA NA 3p22.3 NA NA NA NA rs34472793 0.02 0.02 0.016 0.014377 0.0447 0.001 0.0288 NA 0.0061 0.04 0.0017 0.04 NA 0.0276 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.483927 2.483927 NA 0.039767 0.004766 NA 0.014 NA 3.887933 1263 13 25525488 25525488 G A ncRNA_intronic TPTE2P1 NA NA NA ncRNA_intronic ENSG00000253771 NA NA NA NA NA 13q12.13 NA NA NA NA rs2167398 0.35 0.35 0.326 0.398562 0.4026 0.2986 0.3184 0.4395 0.499 0.37 0.3 0.34 0.42 0.3762 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799766 NA NA NA NA NA 0.377 NA 3.8878666 1263 2 48725563 48725563 G A intronic PPP1R21 NA NA NA intronic ENSG00000162869 NA NA NA NA NA 2p16.3 NA NA NA NA rs77596425 0.06 0.06 0.047 0.0375399 0.1123 NA 0.0519 0.025 0.0061 0.12 NA 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216631 NA NA NA NA NA 0.022 NA 3.8877 1263 2 48734598 48734598 A C intronic PPP1R21 NA NA NA intronic ENSG00000162869 NA NA NA NA NA 2p16.3 NA NA NA NA rs76955615 0.07 0.07 0.07 0.057508 0.1123 NA 0.0605 0.0847 0.0215 0.12 NA 0.07 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240013 NA NA NA NA NA 0.029 NA 3.8877 1263 3 132219554 132219554 T C intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs11925382 0.13 0.13 0.12 0.1252 0.1123 0.1478 0.1398 0.0968 0.1431 0.13 0.13 0.14 0.1 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834949 NA NA NA NA NA 0.101 NA 3.8877 1263 3 152018223 152018223 T G intronic MBNL1 NA NA NA intronic ENSG00000152601 NA NA NA NA NA 3q25.1 NA NA NA NA rs17368446 0.06 0.06 0.06 0.0425319 0.1123 0.001 0.0692 0.0076 0.0419 0.11 NA 0.08 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.115799 NA NA NA NA NA 0.08 NA 3.8877 1263 6 31117673 31117673 C T intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs112640945 0.09 0.09 0.073 0.0784744 0.1123 0.0347 0.1369 0.0567 0.0767 0.12 0.04 0.15 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033267 NA NA NA NA NA 0.051 NA 3.8877 1263 7 95499066 95499066 C A intronic DYNC1I1 NA NA NA intronic ENSG00000158560 NA NA NA NA NA 7q21.3 NA NA NA NA rs3757696 0.24 0.24 0.232 0.29972 0.1123 0.4812 0.1196 0.3555 0.3579 0.11 0.43 0.14 0.3 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933532 NA NA NA NA NA 0.167 NA 3.8877 1263 12 125450416 125450416 G T intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs73229568 0.08 0.08 0.091 0.08127 0.1123 0.0784 0.0562 0.0567 0.1033 0.11 0.08 0.06 0.07 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835681 NA NA NA NA NA 0.167 NA 3.8877 1263 19 22646850 22646850 A G intergenic ZNF98,LOC440518 dist=41702;dist=132209 NA NA ncRNA_exonic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs7258729 0.14 0.14 0.13 0.17492 0.1123 0.2083 0.0922 0.1921 0.2403 0.1 0.15 0.11 0.2 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755048 NA NA NA NA NA 0.159 NA 3.8877 1263 19 22646882 22646882 T C intergenic ZNF98,LOC440518 dist=41734;dist=132177 NA NA ncRNA_intronic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs7259890 0.14 0.14 0.128 0.17472 0.1123 0.2083 0.0922 0.1921 0.2393 0.1 0.15 0.11 0.2 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952442 NA NA NA NA NA 0.159 NA 3.8877 1263 19 22647332 22647332 C T intergenic ZNF98,LOC440518 dist=42184;dist=131727 NA NA ncRNA_intronic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs7259503 0.14 0.14 0.114 0.17472 0.1123 0.2083 0.0922 0.1921 0.2393 0.1 0.15 0.11 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005323 NA NA NA NA NA 0.13 NA 3.8877 1263 19 22647350 22647350 T C intergenic ZNF98,LOC440518 dist=42202;dist=131709 NA NA ncRNA_exonic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs10426790 0.14 0.14 0.121 0.17472 0.1123 0.2083 0.0922 0.1921 0.2393 0.1 0.15 0.11 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649413 NA NA NA NA NA 0.13 NA 3.8877 1263 19 22647379 22647379 T C intergenic ZNF98,LOC440518 dist=42231;dist=131680 NA NA ncRNA_exonic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs10406090 0.14 0.14 0.112 0.17472 0.1123 0.2083 0.0922 0.1921 0.2393 0.1 0.15 0.11 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585176 NA NA NA NA NA 0.072 NA 3.8877 1263 16 19067933 19067933 G A exonic TMC7 NA synonymous SNV TMC7:NM_001160364:exon14:c.G1611A:p.T537T,TMC7:NM_024847:exon14:c.G1941A:p.T647T exonic ENSG00000170537 NA synonymous SNV ENSG00000170537:ENST00000304381:exon14:c.G1941A:p.T647T,ENSG00000170537:ENST00000421369:exon14:c.G1611A:p.T537T,ENSG00000170537:ENST00000569532:exon14:c.G1941A:p.T647T NA NA 16p12.3 NA NA NA NA rs17854511 0.52 0.52 0.505 0.471246 0.6193 0.754 0.5 0.0946 0.5164 0.6 0.76 0.53 0.11 0.561 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583173 NA NA 0.598837 0.183204 NA 0.478 NA 3.8875296 1263 7 39243963 39243963 T A intronic POU6F2 NA NA NA intronic ENSG00000106536 NA NA NA NA NA 7p14.1 Score=845;Name=V$BRN2_01 NA NA NA rs35792719 0.34 0.34 0.31 0.361022 0.3648 0.1468 0.4524 0.3873 0.4775 0.35 0.19 0.4 0.45 0.3833 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662204 NA NA 0.364387 0.371085 NA 0.312 NA 3.887513 1263 14 64557567 64557567 C T intronic SYNE2 NA NA NA intronic ENSG00000054654,ENSG00000140009 NA NA NA NA NA 14q23.2 NA NA NA NA rs10137916 0.06 0.06 0.061 0.0664936 0.0268 NA 0.0303 0.1861 0.0399 0.03 NA 0.04 0.2 0.0456 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417069 NA NA 0.040233 0.139809 NA 0.101 NA 3.887367 1263 4 121958091 121958091 T G exonic NDNF NA synonymous SNV NDNF:NM_024574:exon4:c.A1035C:p.L345L exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon4:c.A1035C:p.L345L NA NA 4q27 NA NA NA NA rs3733558 0.49 0.49 0.447 0.429113 0.6113 0.6458 0.4726 0.09 0.4458 0.61 0.65 0.5 0.1 0.5472 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.091164 NA NA 0.62093 0.177712 ID=COSM1131290;OCCURENCE=1(prostate) 0.449 NA 3.8872366 1263 5 147505116 147505116 G A exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon29:c.G2769A:p.A923A exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000359874:exon29:c.G2769A:p.A923A NA NA 5q32 NA NA NA NA rs3764930 0.46 0.46 0.427 0.453275 0.5915 0.4821 0.6225 0.1876 0.5204 0.56 0.46 0.57 0.21 0.5748 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468333 NA NA 0.613205 0.262755 NA 0.399 NA 3.8871616 1263 3 54905685 54905685 C G intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA NA NA 3p14.3 NA NA NA NA rs1882317 0.11 0.11 0.129 0.134585 0.0298 0.0923 0.0375 0.2799 0.1585 0.03 0.1 0.05 0.29 0.0583 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60997 NA NA 0.024789 0.227019 NA 0.196 NA 3.887111 1263 17 79173462 79173462 C T intronic AZI1 NA NA NA ncRNA_exonic ENSG00000262115 NA NA NA NA NA 17q25.3 NA NA NA NA rs906175 0.43 0.43 0.359 0.420128 0.4463 0.63 0.611 0.0204 0.5818 0.45 0.63 0.59 0.04 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407264 NA NA NA NA NA 0.37 NA 3.8870333 1263 1 225409813 225409813 T C intronic DNAH14 NA NA NA intronic ENSG00000185842 NA NA NA NA NA 1q42.12 NA NA NA NA rs669326 0.2 0.2 0.188 0.221246 0.1133 0.3681 0.2003 0.2262 0.1892 0.11 0.35 0.18 0.2 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62829 NA NA NA NA NA 0.196 NA 3.8867 1263 4 158242512 158242512 T C intronic GRIA2 NA NA NA intronic ENSG00000120251 NA NA NA NA NA 4q32.1 NA NA NA NA rs11722093 0.06 0.06 0.066 0.0465256 0.1133 0.002 0.0634 0.0325 0.0307 0.11 NA 0.09 0.04 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558486 NA NA NA NA NA 0.029 NA 3.8867 1263 5 7891610 7891610 A G intronic MTRR NA NA NA intronic ENSG00000124275 NA NA NA NA NA 5p15.31 NA NA NA NA rs2303081 0.2 0.2 0.19 0.226438 0.1133 0.1677 0.3271 0.3676 0.1411 0.1 0.18 0.27 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271541 NA NA NA NA NA 0.29 NA 3.8867 1263 9 2033182 2033182 A C intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA NA NA rs1112533 0.17 0.17 0.179 0.171526 0.1133 0.1786 0.2579 0.2557 0.0491 0.11 0.19 0.22 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.690575 1.690575 NA NA NA NA 0.174 NA 3.8867 1263 15 31090995 31090995 C T intergenic LOC100288637,HERC2P10 dist=25786;dist=19244 NA NA ncRNA_intronic ENSG00000103832 NA NA NA NA NA 15q13.2 NA NA NA NA rs12904833 0.05 0.05 0.04 0.0579073 0.1133 0.0079 0.0576 0.0136 0.1125 0.11 0.01 0.06 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520564 NA NA NA NA NA 0.022 NA 3.8867 1263 15 34536090 34536090 C T intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs59209438 0.15 0.15 0.126 0.158946 0.1133 0.2738 0.1599 0.0756 0.1994 0.12 0.26 0.15 0.08 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.01545 NA NA NA NA NA 0.058 NA 3.8867 1263 11 67196544 67196544 C G intronic RPS6KB2 NA NA NA intronic ENSG00000175634 NA NA NA NA NA 11q13.2 NA NA Name=3 NA rs917570 0.28 0.28 0.275 0.233427 0.3946 0.1548 0.2363 0.1936 0.2004 0.42 0.14 0.29 0.21 0.308 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883422 NA 0.04 0.410834 0.202944 NA 0.319 NA 3.886566 1263 5 76734222 76734222 G A intronic WDR41 NA NA NA intronic ENSG00000164253 NA NA NA NA NA 5q13.3 NA NA NA NA rs7720548 0.09 0.09 0.093 0.118011 0.0268 0.1052 0.0735 0.2103 0.1319 0.03 0.11 0.07 0.17 0.0639 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695766 NA NA 0.022791 0.19882 NA 0.101 NA 3.886509 1263 3 193711138 193711138 C T ncRNA_exonic DPPA2P3 NA NA NA ncRNA_exonic ENSG00000224403 NA NA NA NA NA 3q29 NA NA NA NA rs9288760 0.86 0.86 0.852 0.874201 0.7803 0.8373 0.8473 0.9834 0.8804 0.79 0.86 0.85 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445814 NA NA NA NA NA 0.884 NA 3.8863666 1263 2 37032529 37032529 G C intronic VIT NA NA NA intronic ENSG00000205221 NA NA NA NA NA 2p22.2 NA NA NA NA rs75212718 0.02 0.02 0.025 0.0197684 0.0586 NA 0.0331 0.0068 0.0082 0.05 0.0017 0.03 0.01 NA 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685587 NA NA 0.055249 0.00742 NA 0.014 NA 3.886151 1263 19 49520372 49520372 A T upstream LHB NA NA NA upstream ENSG00000104826 NA NA NA Score=321;Name=lod=27 NA 19q13.33 NA Name=Egr-1 NA NA rs3752210 0.62 0.62 0.63 0.633187 0.5994 0.3383 0.6542 0.944 0.5368 0.61 0.34 0.65 0.93 0.6023 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.360947 1.360947 NA 0.578837 0.890377 NA 0.717 NA 3.8861296 1263 19 54668392 54668392 G A intronic TMC4 NA NA NA intronic ENSG00000167608 NA NA NA NA NA 19q13.42 NA NA NA NA rs113570942 0.04 0.04 0.035 0.0503195 0.0577 0.0248 0.0346 0.0061 0.1401 0.06 0.03 0.05 0.01 0.0562 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247182 NA NA NA NA NA 0.022 NA 3.8861 1263 13 53171317 53171317 C T intergenic TPTE2P3,HNRNPA1L2 dist=10092;dist=20288 NA NA intergenic ENSG00000198384,ENSG00000139675 dist=10095;dist=20288 NA NA Score=428;Name=lod=73 NA 13q14.3 NA NA NA NA rs4885325 0.32 0.32 0.278 0.282348 0.4473 0.2103 0.4654 0.1536 0.2311 0.43 0.2 0.44 0.18 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513618 NA NA NA NA NA 0.217 NA 3.8860334 1263 11 9333089 9333089 C G intronic TMEM41B NA NA NA ncRNA_exonic ENSG00000254884 NA NA NA NA NA 11p15.4 NA NA NA NA rs10840204 0.4 0.4 0.349 0.346446 0.4473 0.5228 0.3401 0.1899 0.2771 0.46 0.51 0.35 0.22 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383404 NA NA NA NA NA 0.341 NA 3.8860333 1263 1 109482222 109482222 C T intronic CLCC1 NA NA NA intronic ENSG00000121940,ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs11587730 0.02 0.02 NA 0.0129792 0.0388 NA 0.0173 0.0015 0.0123 0.04 NA 0.02 NA 0.0344 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611659 NA NA 0.040823 0.005674 NA NA NA 3.885977 1263 2 44126747 44126747 G A intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs35113761 0.03 0.03 0.017 0.0195687 0.0398 NA 0.0461 0.0045 0.0204 0.04 NA 0.07 0.002 0.0342 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423062 NA NA 0.040126 0.006582 NA 0.087 NA 3.885874 1263 1 11897271 11897271 T C intronic CLCN6 NA NA NA intronic ENSG00000011021 NA NA NA NA NA 1p36.22 NA NA NA NA rs198405 0.12 0.12 0.13 0.162141 0.1143 0.0129 0.1066 0.3676 0.1268 0.1 0.01 0.1 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338561 NA NA NA NA NA 0.174 NA 3.8857 1263 3 1637940 1637940 G A intergenic CNTN6,CNTN4 dist=192662;dist=502610 NA NA upstream ENSG00000184423 NA NA NA Score=747;Name=lod=1442 NA 3p26.3 NA NA NA NA rs900244 0.49 0.49 0.464 0.509984 0.6143 0.5486 0.4899 0.2337 0.7505 0.63 0.52 0.47 0.24 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.216664 NA NA NA NA NA 0.543 NA 3.8857 1263 3 132250027 132250027 G C intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs3816529 0.1 0.1 0.079 0.0930511 0.1143 0.1151 0.1297 0.0053 0.1411 0.13 0.11 0.13 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219075 NA NA NA NA NA 0.065 NA 3.8857 1263 4 2252531 2252531 G A intronic MXD4 NA NA NA intronic ENSG00000123933 NA NA NA NA NA 4p16.3 NA NA NA NA rs2071661 0.26 0.26 0.261 0.251398 0.1143 0.3403 0.1988 0.4017 0.135 0.11 0.34 0.2 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556211 NA NA NA NA NA 0.246 NA 3.8857 1263 7 24789449 24789449 G A intronic DFNA5 NA NA NA intronic ENSG00000105928 NA NA NA NA NA 7p15.3 NA NA NA NA rs10235527 0.15 0.15 0.121 0.14996 0.1143 0.1974 0.2392 0.0832 0.1646 0.12 0.19 0.23 0.08 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580115 NA NA NA NA NA 0.072 NA 3.8857 1263 7 100552644 100552644 C A intergenic ACHE,MUC12 dist=59103;dist=60260 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C1395A:p.P465P NA NA 7q22.1 NA NA NA NA rs2904850 NA NA NA 0.179513 0.0974 0.3095 0.3804 0.0946 0.1022 NA NA NA NA 0.5169 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45274 NA NA NA NA NA 0.442 NA 3.8857 1263 13 59104856 59104856 A G intergenic PCDH17,DIAPH3 dist=801791;dist=1134865 NA NA ncRNA_exonic ENSG00000214335 NA NA NA NA NA 13q21.1 NA NA NA NA rs7328487 0.11 0.11 0.106 0.135783 0.1143 0.126 0.0764 0.2549 0.0491 0.09 0.11 0.09 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038479 NA NA NA NA ID=COSN164510;OCCURENCE=1(NS) 0.087 NA 3.8857 1263 14 91247024 91247024 G A intronic TTC7B NA NA NA intronic ENSG00000165914 NA NA NA NA NA 14q32.11 NA NA NA NA rs8011601 0.3 0.3 0.326 0.338059 0.1143 0.2887 0.1671 0.7141 0.2321 0.12 0.28 0.18 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599764 NA NA NA NA NA 0.333 NA 3.8857 1263 17 5034048 5034048 A G intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 NA NA NA NA rs11871054 0.11 0.11 0.087 0.103035 0.1143 0.1558 0.0706 0.0666 0.1094 0.12 0.13 0.09 0.09 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187758 NA NA NA NA NA 0.08 NA 3.8857 1263 19 8154350 8154350 G A intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs3813782 0.18 0.18 0.145 0.161741 0.1143 0.2391 0.268 0.1293 0.0992 0.12 0.25 0.24 0.14 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075149 NA NA NA NA NA 0.101 NA 3.8857 1263 20 3262181 3262181 A G intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA NA NA rs17698336 0.06 0.06 0.036 0.0491214 0.1143 NA 0.0764 0.0068 0.0706 0.11 NA 0.09 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.493839 1.493839 NA NA NA NA 0.014 NA 3.8857 1263 3 16535229 16535229 C T intronic RFTN1 NA NA NA intronic ENSG00000131378 NA NA NA Score=346;Name=lod=34 NA 3p24.3 NA NA NA NA rs3815962 0.38 0.38 0.359 0.400559 0.3529 0.3879 0.4568 0.3608 0.4765 0.37 0.36 0.44 0.39 0.3949 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902233 NA NA 0.366512 0.369496 NA 0.246 NA 3.885688 1263 20 57570854 57570854 G A intronic CTSZ NA NA NA intronic ENSG00000101160 NA NA NA NA NA 20q13.32 NA Name=c-Myc,Pol2 NA NA rs3787492 0.29 0.29 0.291 0.277955 0.3946 0.1637 0.2939 0.2927 0.2444 0.39 0.16 0.32 0.27 0.3432 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189195 NA NA 0.376512 0.284612 NA 0.355 NA 3.885688 1263 2 68592584 68592584 T C intronic PLEK NA NA NA ncRNA_exonic ENSG00000203395 NA NA NA NA NA 2p14 NA Name=Pol2-4H8,Pol2,WHIP NA NA rs880668 0.84 0.84 0.836 0.865415 0.7117 0.9454 0.8199 0.9554 0.8517 0.72 0.93 0.8 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101614 NA NA 0.736015 0.928468 NA 0.899 NA 3.8856183 1263 2 165383661 165383661 C T intronic GRB14 NA NA NA intronic ENSG00000115290 NA NA NA NA NA 2q24.3 NA NA NA NA rs34831964 0.02 0.02 0.018 0.0147764 0.0437 NA 0.0216 0.0015 0.0133 0.04 NA 0.01 NA 0.0298 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019082 NA NA 0.040978 0.008174 NA 0.007 NA 3.885522 1263 20 60508197 60508197 C T intronic CDH4 NA NA NA intronic ENSG00000179242 NA NA NA NA NA 20q13.33 NA NA NA NA rs142208243 0.02 0.02 0.02 0.0161741 0.0417 0.001 0.0231 0.0023 0.0194 0.05 0.0017 0.02 0.002 0.0292 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38769 NA NA 0.043953 0.01044 NA 0.014 NA 3.885147 1263 1 892460 892460 G C intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs41285802 0.09 0.09 0.096 0.0994409 0.0378 0.0665 0.0764 0.2496 0.0102 0.03 0.07 0.07 0.23 0.0497 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192678 NA NA 0.027442 0.215842 NA 0.058 NA 3.885058 1263 4 954311 954311 C T UTR3 DGKQ NM_001347:c.*97G>A NA NA UTR3 ENSG00000145214 ENST00000273814:c.*97G>A,ENST00000509465:c.*97G>A NA NA NA NA 4p16.3 NA NA NA NA rs3733349 0.45 0.45 0.457 0.411542 0.4483 0.3433 0.5591 0.4017 0.3528 0.45 0.37 0.56 0.45 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265888 NA NA NA NA NA 0.399 NA 3.8850334 1263 19 53995750 53995750 C T UTR3 ZNF813 NM_001004301:c.*410C>T NA NA UTR3 ENSG00000198346 ENST00000396403:c.*410C>T NA NA NA NA 19q13.42 NA NA NA NA rs2708843 0.46 0.46 0.482 0.500799 0.4483 0.3026 0.4395 0.6989 0.5348 0.43 0.3 0.45 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811474 NA NA NA NA NA 0.543 NA 3.8850334 1263 20 44470676 44470676 T C exonic SNX21 NA synonymous SNV SNX21:NM_152897:exon5:c.T594C:p.S198S exonic ENSG00000124104 NA synonymous SNV ENSG00000124104:ENST00000342644:exon5:c.T594C:p.S198S NA NA 20q13.12 NA NA NA NA rs3848713 0.54 0.54 0.504 0.516174 0.6004 0.5188 0.6801 0.3918 0.4785 0.62 0.51 0.65 0.37 0.5799 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515818 NA NA 0.601343 0.433308 NA 0.507 NA 3.8850236 1264 1 1650920 1650920 G A intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs36191908 0.38 0.38 0.277 0.000199681 NA NA 0.0014 NA NA 0.43 0.32 0.44 0.35 0.4484 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958949 NA NA NA NA NA 0.014 NA 3.8849333 1264 14 107179268 107179268 A G intergenic LINC00221,NONE dist=227739;dist=NONE NA NA UTR5 ENSG00000211974 ENST00000390634:c.-6T>C NA NA NA NA 14q32.33 NA Name=Pol2 NA NA rs10144801 0.36 0.36 0.342 0.532548 0.3241 0.4226 0.3761 0.7716 0.6483 0.27 0.37 0.33 0.51 0.3546 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495641 NA NA 0.26979 0.388167 NA 0.471 NA 3.8848434 1264 20 43142720 43142720 A G intronic SERINC3 NA NA NA intronic ENSG00000132824 NA NA NA NA NA 20q13.12 NA NA NA NA rs41303901 0.04 0.04 0.03 0.0427316 0.0378 0.0069 0.0317 0.0976 0.0184 0.04 0.0035 0.03 0.09 0.0366 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22083 NA NA 0.040814 0.086927 NA 0.036 NA 3.884786 1264 1 186645488 186645488 A G intronic PTGS2 NA NA NA intronic ENSG00000073756 NA NA NA NA NA 1q31.1 NA NA NA NA rs4648276 0.1 0.1 0.095 0.114816 0.1153 0.0397 0.1715 0.1097 0.1585 0.12 0.05 0.18 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40028 NA NA NA NA NA 0.159 NA 3.8847 1264 2 138321018 138321018 G C intronic THSD7B NA NA NA intronic ENSG00000144229 NA NA NA NA NA 2q22.1 NA NA NA NA rs17742691 0.05 0.05 0.044 0.0413339 0.1153 0.001 0.0432 0.0136 0.0429 0.11 NA 0.04 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.522918 3.522918 NA NA NA NA 0.065 NA 3.8847 1264 4 6058620 6058620 C T intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs16838135 0.14 0.14 0.149 0.16873 0.1153 0.001 0.1066 0.4168 0.1053 0.12 NA 0.09 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858952 NA NA NA NA NA 0.196 NA 3.8847 1264 13 39451557 39451557 A T intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs1945509 0.16 0.16 0.137 0.173123 0.1153 0.0972 0.3242 0.2194 0.1411 0.1 0.11 0.27 0.23 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301739 NA NA NA NA NA 0.159 NA 3.8847 1264 14 65734491 65734491 T A intergenic MAX,MIR4708 dist=165229;dist=67345 NA NA ncRNA_intronic ENSG00000258760 NA NA NA NA NA 14q23.3 NA NA NA NA rs1256511 0.26 0.26 0.272 0.269369 0.1153 0.2738 0.1167 0.5855 0.1043 0.11 0.28 0.14 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.093662 NA NA NA NA NA 0.246 NA 3.8847 1264 17 40940579 40940579 G A intronic WNK4 NA NA NA intronic ENSG00000126562 NA NA NA NA NA 17q21.31 NA NA NA NA rs61755606 0.06 0.06 0.056 0.0493211 0.1153 NA 0.0562 0.0091 0.0818 0.12 NA 0.06 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808451 NA NA NA NA NA 0.109 NA 3.8847 1264 17 62248386 62248386 C G intronic TEX2 NA NA NA intronic ENSG00000136478 NA NA NA NA NA 17q23.3 NA NA NA NA rs12941171 0.16 0.16 0.172 0.169529 0.1153 0.001 0.0807 0.4652 0.0624 0.12 0.0017 0.09 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.082561 2.082561 NA NA NA NA 0.181 NA 3.8847 1264 19 2109812 2109812 G C intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs79162849 0.07 0.07 0.056 0.0770767 0.1153 NA 0.0677 0.0749 0.1268 0.11 NA 0.09 0.08 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63351 NA NA NA NA NA 0.065 NA 3.8847 1264 19 4159873 4159873 A G intronic CREB3L3 NA NA NA intronic ENSG00000060566 NA NA NA NA NA 19p13.3 NA NA NA NA rs2240702 0.15 0.15 0.13 0.127396 0.1153 0.2897 0.1182 0.0234 0.1196 0.13 0.29 0.13 0.04 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286272 NA NA NA NA NA 0.152 NA 3.8847 1264 1 186295021 186295021 A G ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000047410 NA NA NA NA NA 1q31.1 NA NA NA NA rs76057663 0.12 0.12 0.12 0.120008 0.1511 0.13 0.0692 0.1036 0.136 0.15 0.11 0.08 0.09 0.1404 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036139 NA NA 0.157396 0.10094 NA 0.116 NA 3.8844373 1264 2 28763230 28763230 C A intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs79986357 0.04 0.04 0.046 0.0363419 0.0467 0.001 0.0504 0.0688 0.0082 0.04 0.0017 0.04 0.08 0.0308 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.323503 1.323503 NA 0.038256 0.054925 NA 0.051 NA 3.884244 1264 16 1552876 1552876 C G intronic TELO2 NA NA NA intronic ENSG00000100726 NA NA NA NA NA 16p13.3 NA NA NA NA rs2294603 0.1 0.1 0.112 0.123203 0.0586 0.0565 0.0418 0.2716 0.1155 0.06 0.04 0.05 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421907 NA NA 0.057197 0.246387 NA 0.109 NA 3.884203 1264 6 116263819 116263819 C A intronic FRK NA NA NA intronic ENSG00000111816 NA NA NA NA NA 6q22.1 NA NA NA NA rs41289918 0.09 0.09 0.055 0.0684904 0.0358 0.1369 0.1844 0.0091 0.0297 0.04 0.15 0.17 0.02 0.0586 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.969278 NA NA 0.021744 0.004766 NA 0.043 NA 3.883856 1264 4 9514776 9514776 C T intergenic DEFB131,MIR548I2 dist=62536;dist=43013 NA NA ncRNA_exonic ENSG00000249866 NA NA NA NA NA 4p16.1 NA NA NA NA rs34056993 0.12 0.12 0.096 0.141973 0.1163 0.0446 0.2046 0.2375 0.0951 0.12 0.03 0.16 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031857 NA NA NA NA NA 0.007 NA 3.8837 1264 7 44803944 44803944 G T intronic ZMIZ2 NA NA NA intronic ENSG00000122515 NA NA NA NA NA 7p13 NA NA NA NA rs79784917 0.08 0.08 0.058 0.0670927 0.1163 0.0308 0.1599 0.0083 0.0675 0.11 0.04 0.14 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557547 NA NA NA NA NA 0.167 NA 3.8837 1264 8 70772285 70772285 C G intergenic SLCO5A1,PRDM14 dist=24986;dist=191601 NA NA ncRNA_exonic ENSG00000255107 NA NA NA NA NA 8q13.3 NA NA NA NA rs59676355 0.12 0.12 0.097 0.137979 0.1163 0.1964 0.1239 0.0439 0.2372 0.12 0.19 0.12 0.03 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266092 NA NA NA NA NA 0.109 NA 3.8837 1264 15 52662670 52662670 T C intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs2290335 0.28 0.28 0.271 0.323682 0.1163 0.5694 0.2939 0.2806 0.363 0.12 0.53 0.24 0.27 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.860286 2.860286 NA NA NA NA 0.268 NA 3.8837 1264 17 1411597 1411597 C T intronic INPP5K NA NA NA intronic ENSG00000132376 NA NA NA NA NA 17p13.3 NA NA NA NA rs2286868 0.12 0.12 0.123 0.0996406 0.1163 0.128 0.0807 0.1278 0.0286 0.12 0.12 0.09 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.853055 1.853055 NA NA NA NA 0.138 NA 3.8837 1264 17 78039178 78039178 A G intronic CCDC40 NA NA NA intronic ENSG00000141519 NA NA NA NA NA 17q25.3 NA NA NA NA rs80207190 0.08 0.08 0.095 0.071885 0.1163 0.001 0.0706 0.0893 0.0767 0.12 NA 0.07 0.11 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118275 NA NA NA NA NA 0.058 NA 3.8837 1264 22 17446906 17446906 G A intronic GAB4 NA NA NA intronic ENSG00000215568 NA NA NA NA NA 22q11.1 NA NA NA NA rs73145683 0.09 0.09 0.085 0.0864617 0.1163 0.0188 0.1873 0.1104 0.0215 0.12 0.03 0.17 0.08 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617058 NA NA NA NA NA 0.188 NA 3.8837 1264 11 33052893 33052893 C G intronic DEPDC7 NA NA NA intronic ENSG00000121690 NA NA NA NA NA 11p13 NA NA NA NA rs56308649 0.02 0.02 0.01 0.0139776 0.0447 NA 0.0216 0.0015 0.0082 0.04 NA 0.02 0.002 0.0312 0.041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917546 NA NA 0.040544 0.007625 NA 0.109 NA 3.883556 1264 9 132618650 132618650 C G intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs41278740 0.02 0.02 0.021 0.0145767 0.0477 NA 0.0216 0.003 0.0061 0.04 NA 0.03 0.01 0.0268 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.676509 3.676509 NA 0.042029 0.007653 NA 0.029 NA 3.883471 1264 1 232551416 232551416 G A intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA NA Name=14 NA rs12569188 0.34 0.34 0.322 0.315096 0.3827 0.4306 0.3905 0.1589 0.2843 0.36 0.44 0.42 0.15 0.3601 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36298 NA NA 0.374031 0.201434 NA 0.246 NA 3.883169 1264 4 8242740 8242740 G C UTR3 SH3TC1 NM_018986:c.*58G>C NA NA UTR3 ENSG00000125089 ENST00000245105:c.*58G>C,ENST00000539824:c.*58G>C,ENST00000515682:c.*3921G>C NA NA NA NA 4p16.1 NA NA NA NA rs8153 0.29 0.29 0.259 0.228834 0.4503 0.2212 0.2507 0.0681 0.2106 0.46 0.23 0.27 0.09 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176391 NA NA NA NA NA 0.319 NA 3.8830334 1264 16 69446526 69446526 G A intergenic TERF2,CYB5B dist=26635;dist=11972 NA NA intergenic ENSG00000132604,ENSG00000103018 dist=26635;dist=11902 NA NA NA NA 16q22.1 NA Name=TCF4 NA NA rs153052 0.36 0.36 0.33 0.31869 0.4503 0.2788 0.4424 0.1657 0.3436 0.46 0.29 0.45 0.21 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606081 NA NA NA NA NA 0.319 NA 3.8830334 1264 3 158214471 158214471 C T intronic RSRC1 NA NA NA ncRNA_exonic ENSG00000243314 NA NA NA NA NA 3q25.32 NA NA NA NA rs6795376 0.49 0.49 0.491 0.53095 0.4503 0.4038 0.4942 0.6483 0.6125 0.48 0.38 0.49 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809643 NA NA NA NA NA 0.486 NA 3.8830333 1264 19 33417044 33417044 C T intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs3813150 0.07 0.07 0.062 0.0754792 0.0557 0.0556 0.0648 0.0666 0.136 0.05 0.06 0.09 0.08 NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522148 NA NA 0.061418 0.054847 NA 0.094 NA 3.882882 1264 1 157548669 157548669 T A intronic FCRL4 NA NA NA intronic ENSG00000163518 NA NA NA NA NA 1q23.1 NA NA Name=2 NA rs1885561 0.44 0.44 0.463 0.440895 0.3897 0.245 0.3617 0.7882 0.2822 0.38 0.24 0.4 0.81 0.3678 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563429 NA NA 0.359767 0.715388 NA 0.551 NA 3.882733 1264 1 119988512 119988512 G A intergenic HSD3B2,HSD3B1 dist=22850;dist=61314 NA NA ncRNA_exonic ENSG00000203858 NA NA NA NA NA 1p12 NA NA NA NA rs10923824 0.28 0.28 0.318 0.338059 0.1173 0.2401 0.2305 0.6188 0.363 0.11 0.28 0.25 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.119686 NA NA NA NA NA 0.333 NA 3.8827 1264 2 222826492 222826492 C T intergenic EPHA4,PAX3 dist=389482;dist=238114 NA NA ncRNA_exonic ENSG00000226666 NA NA NA NA NA 2q36.1 NA NA NA NA rs71432679 0.07 0.07 0.033 0.0439297 0.1173 0.003 0.0951 0.0091 0.0215 0.12 0.01 0.09 0.03 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609125 NA NA NA NA NA 0.022 NA 3.8827 1264 1 35852521 35852521 G T intronic ZMYM4 NA NA NA intronic ENSG00000146463 NA NA NA NA NA 1p34.3 NA NA NA NA rs615315 0.42 0.42 0.44 0.424321 0.1173 0.5298 0.3127 0.7595 0.2577 0.11 0.57 0.31 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921431 NA NA NA NA NA 0.312 NA 3.8827 1264 1 160109835 160109835 G A intronic ATP1A2 NA NA NA intronic ENSG00000018625 NA NA NA NA NA 1q23.2 NA NA NA NA rs55884181 0.1 0.1 0.092 0.0958466 0.1173 0.0655 0.1282 0.0991 0.0777 0.12 0.05 0.12 0.09 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568086 NA NA NA NA NA 0.181 NA 3.8827 1264 3 16450775 16450775 G T intronic RFTN1 NA NA NA intronic ENSG00000131378 NA NA NA NA NA 3p24.3 NA NA NA NA rs62236343 0.06 0.06 0.048 0.057508 0.1173 0.0119 0.0692 0.028 0.0746 0.12 0.01 0.07 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693504 NA NA NA NA NA 0.094 NA 3.8827 1264 4 41259240 41259240 C G intronic UCHL1 NA NA NA intronic ENSG00000154277 NA NA NA NA NA 4p13 NA NA NA NA rs112424642 0.12 0.12 0.099 0.104433 0.1173 0.1528 0.1138 0.0643 0.089 0.13 0.17 0.12 0.05 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.362479 1.362479 NA NA NA NA 0.014 NA 3.8827 1264 7 4150203 4150203 G C intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs62438179 0.07 0.07 0.078 0.0788738 0.1173 0.001 0.0692 0.0741 0.1329 0.12 0.0017 0.06 0.1 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078464 NA NA NA NA NA 0.065 NA 3.8827 1264 12 2719934 2719934 C T intronic CACNA1C NA NA NA intronic ENSG00000151067 NA NA NA NA NA 12p13.33 NA NA NA NA rs55641425 0.05 0.05 0.056 0.052516 0.1173 0.005 0.0648 0.0159 0.0757 0.11 0.01 0.07 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234592 NA NA NA NA NA 0.08 NA 3.8827 1264 18 29046430 29046430 T G intronic DSG3 NA NA NA intronic ENSG00000134757 NA NA NA NA NA 18q12.1 NA NA NA NA rs35293326 0.1 0.1 0.099 0.096246 0.1173 0.0804 0.0879 0.1021 0.089 0.11 0.09 0.1 0.1 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8962 NA NA NA NA NA 0.109 NA 3.8827 1264 20 61867896 61867896 A G intronic BIRC7 NA NA NA intronic ENSG00000101197 NA NA NA NA NA 20q13.33 NA NA NA NA rs34646256 0.06 0.06 0.045 0.0393371 0.1173 NA 0.0605 0.0121 0.0215 0.12 NA 0.07 0.03 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416147 NA NA NA NA NA 0.116 NA 3.8827 1264 9 74862361 74862361 C T intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA NA NA NA rs11143200 0.05 0.05 0.046 0.0513179 0.0388 NA 0.0403 0.1407 0.0041 0.03 NA 0.05 0.12 0.0357 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742513 NA NA 0.042907 0.133061 NA 0.072 NA 3.882593 1264 15 76032894 76032894 G A upstream DNM1P35 NA NA NA ncRNA_intronic ENSG00000260288 NA NA NA NA NA 15q24.2 NA NA NA NA rs28695212 0.26 0.26 0.223 0.254792 0.2843 0.2371 0.3545 0.2224 0.2157 0.29 0.2 0.32 0.22 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48195 NA NA NA NA NA 0.37 NA 3.8823666 1264 1 19199221 19199221 C T UTR3 ALDH4A1 NM_001161504:c.*118G>A,NM_003748:c.*118G>A NA NA UTR3 ENSG00000159423 ENST00000538309:c.*118G>A,ENST00000538839:c.*118G>A,ENST00000375341:c.*118G>A NA NA NA NA 1p36.13 NA NA NA NA rs11740 0.46 0.46 0.428 0.471446 0.4513 0.6567 0.5519 0.1982 0.6135 0.43 0.67 0.48 0.23 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102606 NA NA NA NA NA 0.464 NA 3.8820334 1264 1 207079615 207079615 A G intronic FAIM3 NA NA NA ncRNA_exonic ENSG00000271680 NA NA NA NA NA 1q32.1 NA NA NA NA rs188334 0.29 0.29 0.302 0.245607 0.4513 0.1359 0.3012 0.1793 0.1973 0.45 0.14 0.36 0.2 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127507 NA NA NA NA NA 0.391 NA 3.8820333 1264 11 43913707 43913707 G A intronic ALKBH3 NA NA NA intronic ENSG00000166199 NA NA NA NA NA 11p11.2 NA NA NA NA rs3740985 0.06 0.06 0.044 0.0716853 0.0268 0.0248 0.2075 0.0802 0.0583 0.02 0.03 0.2 0.07 0.0605 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.549241 1.549241 NA 0.030698 0.064911 NA 0.065 NA 3.882002 1264 11 34912013 34912013 A G intronic APIP NA NA NA intronic ENSG00000149089 NA NA NA NA NA 11p13 NA Name=CTCF NA NA rs2303959 0.46 0.46 0.429 0.457468 0.3559 0.7371 0.4035 0.3056 0.5174 0.36 0.71 0.4 0.36 0.4052 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04504 NA NA 0.35711 0.308583 NA 0.514 NA 3.88179 1264 3 9831112 9831112 A G intronic TADA3 NA NA NA intronic ENSG00000171148 NA NA NA NA NA 3p25.3 NA NA NA NA rs293790 0.14 0.14 0.14 0.142173 0.1183 0.0466 0.1239 0.2572 0.1227 0.13 0.06 0.13 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014414 NA NA NA NA NA 0.138 NA 3.8817 1264 6 29692729 29692729 T G intronic HLA-F NA NA NA intronic ENSG00000204642 NA NA NA NA NA 6p22.1 NA NA NA NA rs2072898 0.19 0.19 0.182 0.23143 0.1183 0.2917 0.1628 0.2663 0.2873 0.12 0.27 0.15 0.24 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237429 1.237429 NA NA NA NA 0.217 NA 3.8817 1264 8 41834902 41834902 T C intronic KAT6A NA NA NA intronic ENSG00000083168 NA NA NA NA NA 8p11.21 NA NA NA NA rs34473679 0.06 0.06 0.049 0.0463259 0.1183 0.001 0.0706 0.0053 0.0573 0.11 0.0017 0.08 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519917 NA NA NA NA NA 0.014 NA 3.8817 1264 8 131797568 131797568 G A intronic ADCY8 NA NA NA intronic ENSG00000155897 NA NA NA NA NA 8q24.22 NA NA NA NA rs12546275 0.11 0.11 0.091 0.0996406 0.1183 0.1577 0.1239 0.0129 0.1207 0.11 0.16 0.13 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044096 NA NA NA NA NA 0.043 NA 3.8817 1264 16 1255390 1255390 C T intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA NA NA NA rs2745165 0.08 0.08 0.054 0.0834665 0.1183 0.0595 0.0793 0.0227 0.1575 0.13 0.05 0.09 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637228 NA NA NA NA NA 0.138 NA 3.8817 1264 18 29049372 29049372 A G intronic DSG3 NA NA NA intronic ENSG00000134757 NA NA NA NA NA 18q12.1 NA NA NA NA rs35777565 0.1 0.1 0.101 0.0974441 0.1183 0.0804 0.0865 0.1067 0.089 0.11 0.09 0.1 0.11 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879183 NA NA NA NA NA 0.109 NA 3.8817 1264 20 24939764 24939764 C T intronic CST7 NA NA NA intronic ENSG00000077984 NA NA NA NA NA 20p11.21 NA NA NA NA rs45556041 0.09 0.09 0.092 0.0722843 0.1183 0.0605 0.1037 0.025 0.0787 0.11 0.07 0.14 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43942 NA NA NA NA NA 0.051 NA 3.8817 1264 6 30229504 30229504 G A ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2516706 0.33 0.33 0.303 0.372604 0.2435 0.5069 0.4481 0.3011 0.41 0.22 0.47 0.4 0.3 0.2973 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094473 NA NA 0.244186 0.278146 NA 0.384 NA 3.8816806 1264 10 27431288 27431288 T C intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs41282208 0.04 0.04 0.03 0.0461262 0.0537 0.004 0.0346 0.0877 0.0337 0.05 0.0035 0.04 0.07 0.0487 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751726 NA NA 0.016283 0.032243 NA 0.043 NA 3.881317 1264 7 30662087 30662087 T C intronic GARS NA NA NA intronic ENSG00000106105 NA NA NA NA NA 7p14.3 NA NA NA NA rs75855065 0.03 0.03 0.029 0.0313498 0.0417 NA 0.0317 0.0628 0.0102 0.04 NA 0.03 0.06 0.034 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222745 NA NA 0.043078 0.073783 NA 0.043 NA 3.881222 1264 6 118320469 118320469 G A intronic SLC35F1 NA NA NA ncRNA_exonic ENSG00000230202 NA NA NA NA NA 6q22.2 NA NA NA NA rs9401042 0.4 0.4 0.37 0.39397 0.4523 0.4812 0.438 0.1694 0.5164 0.46 0.53 0.41 0.17 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093555 NA NA NA NA NA 0.362 NA 3.8810333 1264 20 44815602 44815602 A G intronic CDH22 NA NA NA intronic ENSG00000149654 NA NA NA NA NA 20q13.12 NA NA NA NA rs76118291 0.02 0.02 0.019 0.0141773 0.0427 NA 0.0216 0.0023 0.0102 0.04 NA 0.02 0.002 0.0321 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520696 1.520696 NA 0.044419 0.008852 NA 0.007 NA 3.880781 1264 9 96415653 96415653 C T intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA Score=512;Name=lod=160 NA 9q22.31 NA NA NA NA rs3750354 0.37 0.37 0.348 0.308706 0.3767 0.373 0.3415 0.3169 0.138 0.38 0.39 0.36 0.32 0.3529 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074492 NA NA 0.389651 0.311847 NA 0.399 NA 3.880749 1264 1 160165572 160165572 T A intronic CASQ1 NA NA NA intronic ENSG00000143318 NA NA NA NA NA 1q23.2 NA NA NA NA rs60043899 0.14 0.14 0.147 0.168131 0.1193 0.0913 0.1455 0.1649 0.318 0.12 0.13 0.13 0.2 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29212 1.29212 NA NA NA NA 0.203 NA 3.8807 1264 6 160234796 160234796 T G intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA NA NA 6q25.3 NA NA NA NA rs41267789 0.11 0.11 0.093 0.0954473 0.1193 0.006 0.0922 0.1876 0.0409 0.12 NA 0.11 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395854 NA NA NA NA NA 0.087 NA 3.8807 1264 17 1437334 1437334 A C intronic PITPNA NA NA NA intronic ENSG00000174238 NA NA NA NA NA 17p13.3 NA NA NA NA rs2270229 0.1 0.1 0.088 0.0732827 0.1193 0.129 0.0749 0.0287 0.0276 0.12 0.13 0.09 0.03 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736191 NA NA NA NA NA 0.109 NA 3.8807 1264 19 35033408 35033408 A G intergenic WTIP,SCGB1B2P dist=41323;dist=34230 NA NA ncRNA_exonic ENSG00000248830 NA NA NA NA NA 19q13.11 NA NA NA NA rs10406688 0.19 0.19 0.182 0.207867 0.1193 0.1002 0.0965 0.5348 0.047 0.11 0.05 0.09 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400366 NA NA NA NA NA 0.174 NA 3.8807 1264 20 57564448 57564448 C T intronic NELFCD NA NA NA intronic ENSG00000101158 NA NA NA NA NA 20q13.32 NA NA NA NA rs12479566 0.13 0.13 0.111 0.133586 0.1193 0.1359 0.1772 0.1089 0.1483 0.12 0.12 0.17 0.11 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451432 NA NA NA NA NA 0.109 NA 3.8807 1264 21 35742722 35742722 C T intronic KCNE2 NA NA NA intronic ENSG00000159197 NA NA NA NA NA 21q22.11 NA NA NA NA rs9305548 0.23 0.23 0.249 0.286941 0.1193 0.2232 0.1628 0.4977 0.3282 0.12 0.21 0.17 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027627 NA NA NA NA NA 0.246 NA 3.8807 1264 14 78187032 78187032 T C intronic SNW1 NA NA NA UTR3 ENSG00000119705 ENST00000557623:c.*141T>C NA NA NA NA 14q24.3 NA NA NA NA rs45611739 0.1 0.1 0.097 0.0992412 0.1024 0.006 0.0692 0.2171 0.0542 0.11 NA 0.08 0.21 0.0912 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585993 NA NA 0.092558 0.210849 NA 0.101 NA 3.8805087 1264 2 206605223 206605223 T C intronic NRP2 NA NA NA intronic ENSG00000118257 NA NA NA NA NA 2q33.3 NA NA NA NA rs77781102 0.02 0.02 0.027 0.0161741 0.0477 NA 0.0303 0.0038 0.0072 0.05 NA 0.04 0.0041 0.0282 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156146 NA NA 0.043605 0.011348 NA 0.022 NA 3.880495 1264 19 48591898 48591898 G A intronic PLA2G4C NA NA NA intronic ENSG00000105499 NA NA NA NA NA 19q13.33 NA NA NA NA rs11564555 0.04 0.04 0.022 0.0397364 0.0477 0.006 0.1441 0.0257 0.0112 0.06 0.0017 0.08 0.03 0.0466 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980354 NA NA 0.025233 0.0202 NA 0.058 NA 3.880467 1264 15 40758337 40758337 A C UTR3 BAHD1 NM_014952:c.*8A>C NA NA ncRNA_UTR3 ENSG00000140320 NA NA NA NA NA 15q15.1 NA NA NA NA rs3743145 0.13 0.13 0.126 0.124601 0.2276 0.0685 0.1326 0.0204 0.2117 0.22 0.09 0.16 0.02 0.1761 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574212 NA NA 0.216163 0.063777 NA 0.065 NA 3.880137 1264 14 81448382 81448382 T G intronic TSHR NA NA NA ncRNA_exonic ENSG00000258915 NA NA NA NA NA 14q31.1 NA NA NA NA rs3783949 0.52 0.52 0.499 0.505591 0.4533 0.5982 0.5519 0.4342 0.5276 0.45 0.62 0.54 0.48 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.178505 NA NA NA NA NA 0.507 NA 3.8800333 1264 18 61022556 61022556 C T intronic KDSR NA NA NA intronic ENSG00000119537 NA NA NA NA NA 18q21.33 NA NA NA NA rs72946535 0.02 0.02 0.014 0.0131789 0.0437 NA 0.0216 0.0023 0.0041 0.04 NA 0.03 0.002 0.029 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024245 NA NA 0.047326 0.011121 NA 0.036 NA 3.879974 1264 6 124604038 124604038 T C intronic NKAIN2 NA NA NA intronic ENSG00000188580 NA NA NA NA NA 6q22.31 NA NA NA NA rs41284438 0.17 0.17 0.179 0.154553 0.1203 0.2728 0.0749 0.1657 0.1094 0.12 0.29 0.09 0.17 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241551 NA NA NA NA NA 0.072 NA 3.8797 1264 7 30702244 30702244 C T intronic CRHR2 NA NA NA intronic ENSG00000106113 NA NA NA NA NA 7p14.3 NA NA NA NA rs2270008 0.17 0.17 0.183 0.211262 0.1203 0.1696 0.1311 0.3457 0.2229 0.1 0.15 0.14 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637467 NA NA NA NA NA 0.29 NA 3.8797 1264 7 43827771 43827771 C T intronic BLVRA NA NA NA intronic ENSG00000106605 NA NA NA NA NA 7p13 NA NA NA NA rs2074795 0.1 0.1 0.073 0.0816693 0.1203 0.0804 0.1657 0.0227 0.0634 0.12 0.1 0.15 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382376 NA NA NA NA NA 0.058 NA 3.8797 1264 12 118509347 118509347 T C intronic VSIG10 NA NA NA intronic ENSG00000176834 NA NA NA NA NA 12q24.23 NA NA NA NA rs9669474 0.22 0.22 0.209 0.235024 0.1203 0.2659 0.2493 0.3797 0.1155 0.11 0.24 0.22 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130051 NA NA NA NA NA 0.29 NA 3.8797 1264 14 39870296 39870296 T C intronic FBXO33 NA NA NA intronic ENSG00000165355 NA NA NA NA NA 14q21.1 NA NA NA NA rs10146622 0.08 0.08 0.075 0.0860623 0.1203 0.0724 0.062 0.0174 0.1748 0.13 0.08 0.06 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.891601 NA NA NA NA NA 0.08 NA 3.8797 1264 17 12897669 12897669 C T intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs56329828 0.05 0.05 0.064 0.0499201 0.1203 0.001 0.0793 0.0053 0.0675 0.11 NA 0.07 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.967436 NA NA NA NA NA 0.058 NA 3.8797 1264 17 12908247 12908247 T A intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs17639379 0.05 0.05 0.053 0.0495208 0.1203 0.001 0.0764 0.0053 0.0675 0.11 NA 0.07 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005239 NA NA NA NA NA 0.058 NA 3.8797 1264 19 16035474 16035474 C T intronic CYP4F11 NA NA NA intronic ENSG00000171903 NA NA NA NA NA 19p13.12 NA NA NA NA rs3746153 0.14 0.14 0.122 0.184505 0.1203 0.1558 0.1427 0.1808 0.3149 0.12 0.13 0.15 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545253 NA NA NA NA NA 0.072 NA 3.8797 1264 19 55209385 55209385 G C intergenic LILRB4,LILRP2 dist=29539;dist=10216 NA NA ncRNA_intronic ENSG00000186152 NA NA NA NA NA 19q13.42 NA NA NA NA rs8105212 0.14 0.14 0.136 0.138379 0.1203 0.127 0.1772 0.1467 0.1299 0.12 0.13 0.18 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042838 NA NA NA NA NA 0.08 NA 3.8797 1264 21 42719137 42719137 C A intronic FAM3B NA NA NA intronic ENSG00000183844 NA NA NA NA NA 21q22.3 NA NA NA NA rs11701669 0.11 0.11 0.085 0.096845 0.1203 0.0843 0.1729 0.0681 0.0706 0.12 0.08 0.17 0.08 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608128 NA NA NA NA NA 0.138 NA 3.8797 1264 8 142222374 142222374 A G exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon7:c.T2070C:p.G690G exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon7:c.T2070C:p.G690G,ENSG00000022567:ENST00000433583:exon7:c.T2049C:p.G683G,ENSG00000022567:ENST00000517878:exon7:c.T2223C:p.G741G,ENSG00000022567:ENST00000519067:exon7:c.T2070C:p.G690G NA NA 8q24.3 NA NA NA NA rs7017848 0.68 0.68 0.618 0.686502 0.5905 0.8036 0.5764 0.7542 0.6513 0.57 0.8 0.64 0.76 0.6283 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101571 NA NA 0.568488 0.763289 NA 0.594 NA 3.8793786 1264 3 158386737 158386737 C T intronic GFM1,LXN NA NA NA intronic ENSG00000079257,ENSG00000168827 NA NA NA NA NA 3q25.32 NA Name=Pol2 NA NA rs1492909 0.37 0.37 0.377 0.409145 0.3847 0.1855 0.3386 0.6392 0.4039 0.39 0.16 0.32 0.62 0.3649 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326158 NA NA 0.371352 0.570602 NA 0.464 NA 3.879048 1264 22 20031016 20031016 G C intronic TANGO2 NA NA NA intronic ENSG00000183597 NA NA NA NA NA 22q11.21 NA NA NA NA rs45548038 0.03 0.03 0.031 0.0317492 0.0437 0.0665 0.0043 0.0015 0.044 0.05 0.05 0.01 0.0041 0.0375 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344864 NA NA 0.039884 0.008625 NA 0.022 NA 3.878916 1264 9 131586318 131586318 C T intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA NA NA NA rs41275922 0.06 0.06 0.047 0.057508 0.0398 0.0526 0.0403 0.1021 0.0327 0.04 0.06 0.05 0.11 0.0443 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391266 NA NA 0.037093 0.079473 NA 0.072 NA 3.878807 1264 6 42823529 42823529 C T intronic GLTSCR1L NA NA NA intronic ENSG00000112624 NA NA NA NA NA 6p21.1 NA NA NA NA rs9381223 0.13 0.13 0.132 0.149361 0.0656 0.0694 0.085 0.3495 0.093 0.06 0.07 0.09 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369089 NA NA 0.055625 0.282514 NA 0.138 NA 3.878775 1264 1 10412636 10412636 A T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs4846215 0.11 0.11 0.125 0.136581 0.1213 0.0129 0.1124 0.2141 0.1922 0.12 0.01 0.11 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639533 NA NA NA NA NA 0.174 NA 3.8787 1264 1 10431132 10431132 C T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs12141192 0.11 0.11 0.126 0.13758 0.1213 0.0129 0.1124 0.2118 0.2004 0.12 0.01 0.11 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638739 NA NA NA NA NA 0.174 NA 3.8787 1264 2 74597527 74597527 G A intronic DCTN1 NA NA NA intronic ENSG00000204843 NA NA NA NA NA 2p13.1 NA NA NA NA rs740277 0.2 0.2 0.21 0.198283 0.1213 0.4216 0.1282 0.112 0.2137 0.12 0.45 0.13 0.09 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.747773 NA NA NA NA NA 0.145 NA 3.8787 1264 5 179546264 179546264 A C intronic RASGEF1C NA NA NA intronic ENSG00000146090 NA NA NA NA NA 5q35.3 NA NA NA NA rs36055015 0.07 0.07 0.077 0.0840655 0.1213 0.0119 0.0836 0.0371 0.184 0.13 0.01 0.09 0.03 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59432 NA NA NA NA NA 0.043 NA 3.8787 1264 7 102473163 102473163 A G intronic FBXL13 NA NA NA intronic ENSG00000161040 NA NA NA NA NA 7q22.1 NA NA NA NA rs4377880 0.07 0.07 0.064 0.0625 0.1213 0.0089 0.0922 0.0484 0.0552 0.13 0.01 0.11 0.04 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79762 NA NA NA NA NA 0.087 NA 3.8787 1264 8 105404863 105404863 T C intronic DPYS NA NA NA intronic ENSG00000147647 NA NA NA NA NA 8q22.3 NA NA NA NA rs12675680 0.24 0.24 0.237 0.261781 0.1213 0.38 0.1225 0.3434 0.273 0.12 0.41 0.12 0.32 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73204 NA NA NA NA NA 0.188 NA 3.8787 1264 9 80921145 80921145 C T intronic PSAT1 NA NA NA intronic ENSG00000135069 NA NA NA NA NA 9q21.2 NA NA NA NA rs41277899 0.09 0.09 0.076 0.086262 0.1213 0.0099 0.0922 0.0946 0.1135 0.13 0.01 0.09 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883474 NA NA NA NA NA 0.087 NA 3.8787 1264 9 95030690 95030690 T C intronic IARS NA NA NA intronic ENSG00000196305 NA NA NA NA NA 9q22.31 NA NA NA NA rs2295939 0.1 0.1 0.097 0.120208 0.1213 0.0704 0.1614 0.0469 0.2403 0.13 0.08 0.14 0.04 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245174 NA NA NA NA NA 0.101 NA 3.8787 1264 10 13852967 13852967 A T intronic FRMD4A NA NA NA intronic ENSG00000151474 NA NA NA NA NA 10p13 NA NA NA NA rs77883999 0.06 0.06 0.053 0.0339457 0.1213 NA 0.0418 0.0068 0.0102 0.14 NA 0.06 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278785 NA NA NA NA NA 0.036 NA 3.8787 1264 12 39979839 39979839 T C intronic ABCD2 NA NA NA intronic ENSG00000173208 NA NA NA NA NA 12q12 NA NA NA NA rs11172692 0.12 0.12 0.112 0.122804 0.1213 0.1419 0.0648 0.1369 0.1268 0.11 0.13 0.07 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791818 NA NA NA NA NA 0.08 NA 3.8787 1264 5 169463466 169463466 G T intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA NA NA rs6863396 0.09 0.09 0.106 0.116414 0.0656 0.0734 0.0548 0.143 0.2209 0.06 0.08 0.04 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685927 NA NA 0.05594 0.132948 NA 0.13 NA 3.87846 1264 11 27393813 27393813 G A intronic LGR4 NA NA NA intronic ENSG00000205213 NA NA NA NA NA 11p14.1 NA Name=GATA-1,p300_(F-4),c-Jun,GATA-2,TAL1_(SC-12984),eGFP-GATA2 NA NA rs2448001 0.39 0.39 0.396 0.417532 0.3678 0.4504 0.2709 0.4894 0.4417 0.36 0.41 0.28 0.52 0.3868 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269295 NA NA 0.367062 0.442552 NA 0.529 NA 3.878338 1264 22 16873122 16873122 T G intergenic OR11H1,CCT8L2 dist=423318;dist=198526 NA NA intergenic ENSG00000225293,ENSG00000226160 dist=1509;dist=12934 NA NA NA NA 22q11.1 NA Name=E2F6_(H-50) NA NA rs131549 0.44 0.44 0.347 0.479233 0.4553 0.5972 0.5317 0.292 0.5982 0.42 0.56 0.5 0.3 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443663 NA NA NA NA NA 0.007 NA 3.8780334 1264 6 29911367 29911367 G A intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA NA NA NA rs79412932 0.11 0.11 0.119 NA NA NA NA NA NA 0.15 0.04 0.09 0.17 0.1222 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371662 NA NA NA NA NA NA NA 3.8778 1264 1 10386506 10386506 T C intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs12135774 0.11 0.11 0.121 0.138179 0.1223 0.0218 0.111 0.211 0.1953 0.13 0.01 0.1 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920302 NA NA NA NA NA 0.174 NA 3.8777 1264 2 42552284 42552284 G C intronic EML4 NA NA NA intronic ENSG00000143924 NA NA NA NA NA 2p21 NA NA NA NA rs56315033 0.15 0.15 0.173 0.179513 0.1223 0.001 0.1037 0.3782 0.2076 0.13 NA 0.11 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951973 NA NA NA NA NA 0.159 NA 3.8777 1264 8 41591643 41591643 C T intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs2304869 0.11 0.11 0.108 0.108626 0.1223 0.1548 0.098 0.0333 0.1564 0.12 0.16 0.13 0.03 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.880081 1.880081 NA NA NA NA 0.072 NA 3.8777 1264 14 103405852 103405852 G C intronic CDC42BPB NA NA NA intronic ENSG00000198752 NA NA NA NA NA 14q32.32 NA NA NA NA rs77448485 0.06 0.06 0.069 0.0543131 0.1223 0.001 0.0951 0.0257 0.0491 0.11 0.0017 0.1 0.03 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473183 NA NA NA NA NA 0.058 NA 3.8777 1264 15 69553728 69553728 C A intronic GLCE NA NA NA intronic ENSG00000138604 NA NA NA NA NA 15q23 NA NA NA NA rs8023271 0.14 0.14 0.114 0.125399 0.1223 0.1577 0.0922 0.1362 0.1043 0.14 0.17 0.09 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877668 NA NA NA NA ID=COSN164983;OCCURENCE=1(breast) 0.13 NA 3.8777 1264 15 75142761 75142761 T G intronic SCAMP2 NA NA NA intronic ENSG00000140497 NA NA NA NA NA 15q24.1 NA NA NA NA rs2305668 0.14 0.14 0.128 0.131789 0.1223 0.246 0.1282 0.0469 0.1411 0.12 0.26 0.1 0.04 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446125 NA NA NA NA NA 0.116 NA 3.8777 1264 2 58390547 58390547 G A intronic FANCL NA NA NA UTR3 ENSG00000115392 ENST00000540646:c.*247C>T NA NA NA NA 2p16.1 NA NA NA NA rs10445896 0.12 0.12 0.139 0.120407 0.0905 0.0169 0.0937 0.3018 0.0317 0.08 0.02 0.09 0.33 0.0977 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042756 NA NA 0.100814 0.262596 NA 0.181 NA 3.8776527 1264 7 131864407 131864407 G A intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA NA NA rs3734990 0.11 0.11 0.101 0.11242 0.0348 0.0526 0.0461 0.3253 0.0133 0.03 0.05 0.04 0.35 0.0543 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973676 NA 0 0.033721 0.277576 NA 0.051 NA 3.877179 1264 1 53538669 53538669 G A intronic PODN NA NA NA ncRNA_intronic ENSG00000232993 NA NA NA NA NA 1p32.3 NA NA NA NA rs12145611 0.22 0.22 0.183 0.214657 0.4563 0.0159 0.2421 0.0393 0.3885 0.46 0.01 0.29 0.05 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747972 NA NA NA NA NA 0.116 NA 3.8770333 1264 5 147499616 147499616 C T exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon25:c.C2358T:p.L786L,SPINK5:NM_001127699:exon25:c.C2358T:p.L786L,SPINK5:NM_006846:exon25:c.C2358T:p.L786L exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon25:c.C2358T:p.L786L,ENSG00000133710:ENST00000359874:exon25:c.C2358T:p.L786L,ENSG00000133710:ENST00000398454:exon25:c.C2358T:p.L786L,ENSG00000133710:ENST00000508733:exon25:c.C2301T:p.L767L NA NA 5q32 NA NA NA NA rs17704908 0.49 0.49 0.463 0.48742 0.5915 0.4821 0.6311 0.3139 0.5184 0.56 0.46 0.59 0.36 0.5829 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488677 NA NA 0.615413 0.373308 NA 0.471 NA 3.8768536 1264 11 119291688 119291688 A G ncRNA_intronic LOC100499227 NA NA NA ncRNA_intronic ENSG00000245248 NA NA NA NA NA 11q23.3 NA Name=Pol2,Pol2-4H8 NA NA rs3751026 0.91 0.91 0.891 0.914137 0.8857 0.9583 0.9337 0.8812 0.9284 0.89 0.97 0.94 0.87 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114337 NA NA 0.904148 0.883671 NA 0.819 NA 3.8768186 1264 5 80655709 80655709 T C ncRNA_intronic RNU5D-1,RNU5E-1 NA NA NA UTR3 ENSG00000172497 ENST00000513751:c.*5A>G NA NA NA NA 5q14.1 NA NA NA NA rs13163821 0.14 0.14 0.107 0.114816 0.2356 0.0635 0.1715 0.0219 0.1288 0.23 0.08 0.19 0.02 0.1709 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500984 NA NA 0.216729 0.058155 NA 0.058 NA 3.876771 1264 2 85628556 85628556 A G intronic CAPG NA NA NA intronic ENSG00000042493 NA NA NA NA NA 2p11.2 NA NA NA NA rs2002444 0.08 0.08 0.084 0.0794728 0.1233 0.0159 0.0821 0.0832 0.093 0.12 0.01 0.09 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.715937 1.715937 NA NA NA NA 0.065 NA 3.8767 1264 14 39681157 39681157 C T intergenic PNN,MIA2 dist=28735;dist=21968 NA NA ncRNA_exonic ENSG00000258671 NA NA NA NA NA 14q21.1 NA NA NA NA rs10138869 0.24 0.24 0.214 0.207468 0.1233 0.4484 0.1282 0.1944 0.1196 0.12 0.47 0.15 0.21 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16415 NA NA NA NA NA 0.109 NA 3.8767 1264 16 28596884 28596884 G A intronic CCDC101 NA NA NA intronic ENSG00000176476 NA NA NA NA NA 16p11.2 NA NA NA NA rs10521145 0.08 0.08 0.082 0.0770767 0.1233 0.004 0.1023 0.0787 0.0849 0.11 0.01 0.12 0.1 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82387 NA NA NA NA NA 0.072 NA 3.8767 1264 18 55247118 55247118 C T intronic FECH NA NA NA intronic ENSG00000066926 NA NA NA NA NA 18q21.31 NA NA NA NA rs71355630 0.07 0.07 0.077 0.0613019 0.1233 NA 0.0778 0.087 0.0143 0.13 NA 0.08 0.07 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818257 NA NA NA NA NA 0.058 NA 3.8767 1264 19 10096681 10096681 G A intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs11670525 0.16 0.16 NA 0.178514 0.1233 0.0833 0.1268 0.3533 0.1339 0.12 0.08 0.13 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522011 NA NA NA NA NA 0.058 NA 3.8767 1264 14 93428802 93428802 T A intronic ITPK1 NA NA NA intronic ENSG00000100605 NA NA NA NA NA 14q32.12 NA NA NA NA rs2295393 0.08 0.08 0.081 0.0930511 0.0616 0.1915 0.0418 0.0333 0.1411 0.05 0.18 0.05 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781101 NA NA 0.061911 0.03974 NA 0.043 NA 3.876489 1264 5 32000397 32000397 T C intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA NA NA NA rs115911339 0.03 0.03 0.019 0.0225639 0.0408 0.0228 0.036 0.0045 0.0184 0.05 0.02 0.05 0.002 0.0378 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18106 NA NA 0.045116 0.008625 NA 0.014 NA 3.876284 1264 13 25887738 25887738 C T intronic NUPL1 NA NA NA intronic ENSG00000139496 NA NA NA NA NA 13q12.13 NA NA NA NA rs12866994 0.02 0.02 0.02 0.014976 0.0507 0.001 0.0101 0.0061 0.0082 0.05 NA 0.01 0.01 0.0298 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015812 NA NA 0.043372 0.007717 NA 0.007 NA 3.876128 1264 22 37627246 37627246 G C intronic RAC2 NA NA NA intronic ENSG00000128340 NA NA NA NA NA 22q13.1 NA NA Name=7 NA rs9610683 0.39 0.39 0.394 0.383387 0.3807 0.3185 0.3357 0.5303 0.2883 0.38 0.29 0.34 0.57 0.3649 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994497 NA NA 0.378488 0.496596 NA 0.362 NA 3.875912 1264 8 145012777 145012777 C G intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA Name=17 NA rs7823393 0.24 0.24 0.223 0.230431 0.4056 0.1349 0.2896 0.0598 0.3374 0.4 0.15 0.29 0.07 0.3289 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716476 NA NA 0.389767 0.107905 ID=COSN168454;OCCURENCE=1(large_intestine) 0.297 NA 3.875733 1264 2 46807991 46807991 T C intronic RHOQ NA NA NA intronic ENSG00000119729 NA NA NA NA NA 2p21 NA NA NA NA rs2276554 0.18 0.18 0.181 0.233227 0.1243 0.0456 0.1297 0.5106 0.2372 0.12 0.05 0.13 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142404 NA NA NA NA NA 0.326 NA 3.8757 1264 3 183796081 183796081 G A intergenic HTR3C,HTR3E dist=17620;dist=18771 NA NA ncRNA_intronic ENSG00000233576 NA NA NA NA NA 3q27.1 NA NA NA NA rs9874060 0.14 0.14 0.154 0.154353 0.1243 0.0169 0.0965 0.326 0.136 0.13 0.02 0.1 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707374 NA NA NA NA NA 0.152 NA 3.8757 1264 4 2179086 2179086 T C intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA NA NA rs6816862 0.31 0.31 0.311 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817162 NA NA NA NA NA 0.384 NA 3.8757 1264 5 49929456 49929456 G A intergenic EMB,PARP8 dist=192222;dist=32277 NA NA downstream ENSG00000213956 NA NA NA Score=488;Name=lod=128 NA 5q11.1 NA NA NA NA rs28690842 0.53 0.53 0.496 0.485423 0.6243 0.6677 0.5821 0.2292 0.4325 0.62 0.65 0.59 0.22 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148811 NA NA NA NA NA 0.275 NA 3.8757 1264 9 137582999 137582999 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs12551860 0.1 0.1 0.06 0.0988419 0.1243 0.0873 0.147 0.0272 0.1472 0.14 0.09 0.13 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467395 NA NA NA NA NA 0.036 NA 3.8757 1264 11 18994249 18994249 C T intergenic MRGPRX1,MRGPRX2 dist=37700;dist=81754 NA NA ncRNA_exonic ENSG00000254720 NA NA NA NA NA 11p15.1 NA NA NA NA rs17496620 0.06 0.06 0.061 0.0459265 0.1243 NA 0.0764 0.0272 0.0164 0.12 NA 0.09 0.03 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628833 NA 1 NA NA NA 0.014 NA 3.8757 1264 5 146971279 146971279 A G ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA NA NA 5q32 NA NA NA NA rs77301397 0.13 0.13 0.115 0.153355 0.1561 0.2073 0.2176 0.0053 0.2495 0.14 0.19 0.17 0.02 0.1698 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167264 NA NA 0.131805 0.027248 NA 0.159 NA 3.8756283 1264 8 76463755 76463755 C A intronic HNF4G NA NA NA intronic ENSG00000164749 NA NA NA NA NA 8q21.11 NA NA NA NA rs1800923 0.02 0.02 0.011 0.0191693 0.0408 NA 0.0231 0.0015 0.0378 0.04 NA 0.02 NA 0.0361 0.048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208281 NA NA 0.047558 0.007263 NA 0.043 NA 3.875542 1264 22 37627234 37627234 T C intronic RAC2 NA NA NA intronic ENSG00000128340 NA NA NA NA NA 22q13.1 NA NA Name=7 NA rs9610682 0.39 0.39 0.402 0.389577 0.3807 0.3185 0.3357 0.5537 0.2883 0.38 0.29 0.34 0.58 0.3662 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269149 NA NA 0.378023 0.51793 NA 0.37 NA 3.875077 1265 20 10026357 10026357 T C ncRNA_intronic SNAP25-AS1 NA NA NA ncRNA_intronic ENSG00000227906 NA NA NA NA NA 20p12.2 NA NA NA NA rs685723 0.19 0.19 0.191 0.208466 0.2763 0.006 0.1628 0.3048 0.2495 0.27 0.01 0.19 0.27 0.2349 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.314885 2.314885 NA 0.280581 0.29596 NA 0.196 NA 3.8748856 1265 5 178770759 178770759 C G intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA Name=3 NA rs2271213 0.39 0.39 0.335 0.395367 0.3827 0.5129 0.4251 0.1982 0.5327 0.39 0.51 0.4 0.24 0.415 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.006779 2.006779 NA 0.327442 0.200663 NA 0.435 NA 3.874858 1265 1 203807273 203807273 A G intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs34947847 0.06 0.06 0.056 0.0565096 0.1252 0.002 0.0476 0.0325 0.0808 0.12 0.0035 0.07 0.03 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056533 NA NA NA NA NA 0.029 NA 3.8748 1265 1 203817620 203817620 G C intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs12078932 0.08 0.08 0.074 0.0694888 0.1252 0.0357 0.0519 0.0492 0.0869 0.12 0.04 0.08 0.04 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33607 NA NA NA NA ID=COSN163400;OCCURENCE=1(NS) 0.051 NA 3.8748 1265 2 165378427 165378427 C A intronic GRB14 NA NA NA intronic ENSG00000115290 NA NA NA NA NA 2q24.3 NA NA NA NA rs13015232 0.09 0.09 0.077 0.0952476 0.1252 0.0407 0.1974 0.0492 0.1104 0.13 0.04 0.16 0.05 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678407 NA NA NA NA NA 0.116 NA 3.8748 1265 3 111263826 111263826 G A intronic CD96 NA NA NA intronic ENSG00000153283 NA NA NA NA NA 3q13.13 NA NA NA NA rs1513325 0.09 0.09 0.084 0.0830671 0.1252 0.0377 0.0591 0.1271 0.044 0.12 0.03 0.06 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472783 NA NA NA NA NA 0.196 NA 3.8748 1265 5 14474283 14474283 G A intronic TRIO NA NA NA intronic ENSG00000038382 NA NA NA NA NA 5p15.2 NA NA NA NA rs11749307 0.06 0.06 0.048 0.0435304 0.1252 0.001 0.0735 0.0045 0.0348 0.13 NA 0.1 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022083 NA NA NA NA NA 0.036 NA 3.8748 1265 7 29736553 29736553 A G intergenic DPY19L2P3,WIPF3 dist=8694;dist=109617 NA NA ncRNA_intronic ENSG00000227855 NA NA NA NA NA 7p14.3 NA NA NA NA rs56078668 0.09 0.09 0.075 0.10004 0.1252 0.003 0.2032 0.1074 0.091 0.13 0.0017 0.17 0.08 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.030815 NA NA NA NA NA 0.167 NA 3.8748 1265 11 93808619 93808619 C T intronic HEPHL1 NA NA NA intronic ENSG00000181333 NA NA NA NA NA 11q21 NA NA NA NA rs4753123 0.17 0.17 0.166 0.166534 0.1252 0.1835 0.1715 0.1952 0.1493 0.12 0.2 0.15 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216577 NA NA NA NA NA 0.159 NA 3.8748 1265 16 77355179 77355179 C G intronic ADAMTS18 NA NA NA intronic ENSG00000140873 NA NA NA NA NA 16q23.1 NA NA NA NA rs77699980 0.12 0.12 0.121 0.10623 0.1252 0.256 0.049 0.003 0.1125 0.13 0.24 0.07 0.002 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060577 NA NA NA NA NA 0.043 NA 3.8748 1265 16 77356115 77356115 G C intronic ADAMTS18 NA NA NA intronic ENSG00000140873 NA NA NA NA NA 16q23.1 NA NA NA NA rs74643232 0.12 0.12 0.118 0.10603 0.1252 0.256 0.049 0.003 0.1115 0.13 0.23 0.07 0.002 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.098873 NA NA NA NA NA 0.043 NA 3.8748 1265 20 48098402 48098402 G A intronic KCNB1 NA NA NA intronic ENSG00000158445 NA NA NA NA NA 20q13.13 NA NA NA NA rs35235111 0.02 0.02 0.01 0.0231629 0.0427 0.002 0.0533 0.0023 0.0317 0.04 0.0035 0.04 0.002 0.0367 0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701714 NA NA 0.045814 0.010213 NA 0.007 NA 3.874786 1265 2 86360573 86360573 T G intronic PTCD3 NA NA NA intronic ENSG00000132300 NA NA NA NA NA 2p11.2 NA NA NA NA rs2241437 0.07 0.07 0.063 0.0611022 0.0398 0.2262 0.0274 0.0023 0.0164 0.04 0.21 0.03 0.002 0.044 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670753 NA NA 0.041628 0.007717 NA 0.029 NA 3.874572 1265 16 57946937 57946937 A T intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs8044629 0.17 0.17 0.187 0.18131 0.0338 0.0714 0.0836 0.5303 0.044 0.03 0.08 0.09 0.55 0.0713 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446028 NA NA 0.02046 0.419248 NA 0.239 NA 3.87444 1265 16 341182 341182 G A intronic AXIN1 NA NA NA intronic ENSG00000103126 NA NA NA NA NA 16p13.3 NA NA NA NA rs118063900 0.02 0.02 0.021 0.0133786 0.0507 NA 0.0144 NA 0.0061 0.06 NA 0.01 NA 0.0449 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330064 NA NA 0.030037 0.006431 NA NA NA 3.874363 1265 9 79325558 79325558 G C exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.C1632G:p.T544T exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.C1632G:p.T544T,ENSG00000106772:ENST00000428286:exon8:c.C555G:p.T185T NA NA 9q21.2 NA NA NA NA rs600859 0.49 0.49 0.456 0.483027 0.5974 0.4504 0.6383 0.2708 0.5757 0.58 0.46 0.64 0.29 0.5785 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.452976 NA NA 0.616415 0.348214 NA 0.5 NA 3.8743516 1265 4 145040784 145040784 T C intronic GYPA NA NA NA ncRNA_intronic ENSG00000248828 NA NA NA NA NA 4q31.21 NA NA NA NA rs62334651 0.38 0.38 0.299 0.402556 0.4592 0.4653 0.4885 0.1823 0.5164 0.44 0.41 0.47 0.17 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302018 NA NA NA NA NA 0.138 NA 3.8741333 1265 17 73502636 73502636 T C intronic CASKIN2 NA NA NA intronic ENSG00000177303 NA NA NA NA NA 17q25.1 NA NA NA NA rs115438731 0.06 0.06 0.052 0.0601038 0.0437 0.0288 0.0303 0.143 0.0184 0.04 0.02 0.04 0.13 0.0433 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.512527 NA NA 0.038953 0.118021 NA 0.029 NA 3.874047 1265 9 131735559 131735559 T C intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA Name=c-Fos NA NA rs17452428 0.27 0.27 0.236 0.255391 0.4076 0.1756 0.4006 0.0862 0.3067 0.41 0.16 0.39 0.11 0.343 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293626 NA NA 0.375465 0.121425 NA 0.341 NA 3.873935 1265 1 26547043 26547043 G A intergenic CATSPER4,CEP85 dist=18010;dist=13650 NA NA ncRNA_intronic ENSG00000236155 NA NA NA NA NA 1p36.11 NA NA NA NA rs59707891 0.1 0.1 0.096 0.116813 0.1262 0.0218 0.0692 0.2247 0.093 0.12 0.02 0.06 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756757 NA NA NA NA NA 0.08 NA 3.8738 1265 1 95363698 95363698 A G intronic CNN3 NA NA NA intronic ENSG00000117519 NA NA NA NA NA 1p21.3 NA NA NA NA rs9432611 0.16 0.16 0.182 0.168331 0.1262 0.129 0.0951 0.2958 0.1319 0.14 0.12 0.09 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215661 NA NA NA NA NA 0.109 NA 3.8738 1265 10 61311293 61311293 T C intergenic FAM13C,SLC16A9 dist=188632;dist=99229 NA NA ncRNA_exonic ENSG00000235469 NA NA NA NA NA 10q21.2 NA NA NA NA rs12412495 0.1 0.1 0.106 0.120607 0.1262 0.1567 0.0821 0.0098 0.2546 0.13 0.16 0.08 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192165 NA NA NA NA NA 0.094 NA 3.8738 1265 13 99042158 99042158 G A intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs9582224 0.07 0.07 0.068 0.0780751 0.1262 0.0099 0.0591 0.0522 0.1472 0.14 0.0035 0.07 0.05 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.851031 NA NA NA NA NA 0.043 NA 3.8738 1265 14 81558806 81558806 C T intronic TSHR NA NA NA intronic ENSG00000165409 NA NA NA NA NA 14q31.1 NA NA NA NA rs2075176 0.29 0.29 0.326 0.29972 0.1262 0.3046 0.1427 0.5953 0.1851 0.12 0.32 0.14 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463465 NA NA NA NA NA 0.268 NA 3.8738 1265 15 79183747 79183747 T A intronic MORF4L1 NA NA NA intronic ENSG00000185787 NA NA NA NA NA 15q25.1 NA NA NA NA rs10519215 0.18 0.18 0.182 0.174521 0.1262 0.254 0.1383 0.2405 0.0787 0.13 0.26 0.13 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739087 NA NA NA NA NA 0.167 NA 3.8738 1265 22 44379822 44379822 T C exonic SAMM50 NA synonymous SNV SAMM50:NM_015380:exon12:c.T1017C:p.L339L exonic ENSG00000100347 NA synonymous SNV ENSG00000100347:ENST00000396202:exon11:c.T387C:p.L129L,ENSG00000100347:ENST00000350028:exon12:c.T1017C:p.L339L NA NA 22q13.31 NA NA NA NA rs10452 0.72 0.72 0.712 0.727636 0.5984 0.8165 0.6254 0.7973 0.7474 0.62 0.84 0.6 0.82 0.6294 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949367 NA NA 0.565581 0.758284 NA 0.739 NA 3.8732856 1265 3 119361250 119361250 A G UTR3 POPDC2 NM_022135:c.*73T>C NA NA UTR3 ENSG00000121577 ENST00000495362:c.*73T>C,ENST00000341124:c.*285T>C,ENST00000264231:c.*73T>C,ENST00000493094:c.*202T>C NA NA NA NA 3q13.33 NA NA NA NA rs8007 0.44 0.44 0.423 0.480831 0.4602 0.3393 0.4813 0.5061 0.6135 0.45 0.35 0.49 0.49 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810802 NA NA NA NA NA 0.5 NA 3.8731334 1265 15 49118087 49118087 C T UTR3 SHC4 NM_203349:c.*81G>A NA NA UTR3 ENSG00000185634 ENST00000332408:c.*81G>A,ENST00000396535:c.*81G>A,ENST00000537958:c.*81G>A NA NA NA NA 15q21.1 NA NA NA NA rs3743292 0.34 0.34 0.34 0.30651 0.4602 0.3165 0.3617 0.1505 0.3098 0.44 0.32 0.41 0.16 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.077854 NA NA NA NA NA 0.37 NA 3.8731334 1265 4 33012957 33012957 A G intergenic PCDH7,NONE dist=1864534;dist=NONE NA NA ncRNA_exonic ENSG00000250076 NA NA NA NA NA 4p15.1 NA NA NA NA rs6531315 0.17 0.17 0.186 0.19349 0.1272 0.005 0.1326 0.5083 0.0736 0.11 0.01 0.14 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908698 NA NA NA NA NA 0.232 NA 3.8728 1265 1 1256608 1256608 G A intronic CPSF3L NA NA NA intronic ENSG00000127054 NA NA NA NA NA 1p36.33 NA NA NA NA rs76947392 0.07 0.07 0.062 0.0393371 0.1272 NA 0.0605 0.0083 0.0164 0.15 NA 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531665 NA NA NA NA NA NA NA 3.8728 1265 1 203800715 203800715 A G intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs2275324 0.09 0.09 0.078 0.0898562 0.1272 0.0357 0.0562 0.1225 0.0869 0.13 0.04 0.08 0.09 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919289 NA NA NA NA NA 0.058 NA 3.8728 1265 2 238266146 238266146 C T intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA NA NA rs2645777 0.12 0.12 0.117 0.11861 0.1272 0.0605 0.1167 0.1399 0.1421 0.13 0.05 0.14 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659037 NA NA NA NA NA 0.152 NA 3.8728 1265 11 116766899 116766899 T C intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA NA NA 11q23.3 NA NA NA NA rs10892044 0.13 0.13 0.131 0.140974 0.1272 0.0437 0.1729 0.2088 0.1411 0.12 0.05 0.17 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564295 NA NA NA NA NA 0.043 NA 3.8728 1265 13 101315155 101315155 C T intronic TMTC4 NA NA NA intronic ENSG00000125247 NA NA NA NA NA 13q32.3 NA NA NA NA rs79748265 0.08 0.08 0.067 0.0770767 0.1272 0.0099 0.0893 0.0477 0.1258 0.14 0.01 0.1 0.05 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372432 NA NA NA NA NA 0.065 NA 3.8728 1265 19 43439472 43439472 C G intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs116927510 0.18 0.18 0.111 0.168131 0.1272 0.3194 0.1744 0.0038 0.272 0.16 0.29 0.15 0.09 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155452 NA NA NA NA NA 0.109 NA 3.8728 1265 19 43440003 43440003 C G intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs62110917 0.21 0.21 0.182 0.25639 0.1272 0.4236 0.1816 0.1831 0.3691 0.13 0.4 0.12 0.16 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612392 NA NA NA NA NA 0.217 NA 3.8728 1265 22 46742486 46742486 T G intronic TRMU NA NA NA intronic ENSG00000100416 NA NA NA NA NA 22q13.31 NA NA NA NA rs6008769 0.16 0.16 0.185 0.192093 0.0249 0.001 0.0663 0.6505 0.0307 0.02 NA 0.07 0.62 0.0732 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428153 NA NA 0.029419 0.563323 NA 0.188 NA 3.872481 1265 17 7690404 7690404 G A intronic DNAH2 NA NA NA UTR3 ENSG00000183914 ENST00000574518:c.*3259G>A NA NA NA NA 17p13.1 NA NA NA NA rs72840094 0.17 0.17 0.148 0.132987 0.2942 NA 0.1902 0.0915 0.1196 0.3 NA 0.24 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448851 NA NA NA NA NA 0.217 NA 3.8724667 1265 5 179980527 179980527 A G intronic CNOT6 NA NA NA intronic ENSG00000113300 NA NA NA NA NA 5q35.3 NA Name=eGFP-GATA2,CEBPB,GATA-1,eGFP-JunD NA NA rs11738129 0.39 0.39 0.378 0.366613 0.5497 0.2143 0.3934 0.2905 0.4192 0.54 0.2 0.44 0.33 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.42982 1.42982 NA 0.577938 0.303468 NA 0.428 NA 3.872362 1265 14 64554266 64554266 G A intronic SYNE2 NA NA NA intronic ENSG00000054654,ENSG00000140009 NA NA NA NA NA 14q23.2 NA NA NA NA rs72720309 0.1 0.1 0.101 0.101637 0.0517 0.0556 0.1009 0.1982 0.0706 0.05 0.06 0.11 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883414 NA NA 0.076025 0.159682 NA 0.109 NA 3.872275 1265 1 110037709 110037709 C T intronic CYB561D1 NA NA NA intronic ENSG00000174151 NA NA NA NA NA 1p13.3 NA NA NA NA rs45448998 0.03 0.03 0.025 0.0333466 0.0765 0.001 0.0519 0.0038 0.0491 0.06 0.0017 0.05 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.659852 1.659852 NA 0.051226 0.013006 NA 0.051 NA 3.872274 1265 4 100062675 100062675 T G ncRNA_intronic LOC100507053 NA NA NA ncRNA_intronic ENSG00000246090 NA NA NA NA NA 4q23 NA NA NA NA rs13138294 0.14 0.14 0.124 0.117013 0.2773 NA 0.1729 0.0688 0.0982 0.27 NA 0.19 0.07 0.229 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03335 NA NA 0.288372 0.108942 NA 0.232 NA 3.8719946 1265 1 203817608 203817608 A G intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs12085020 0.09 0.09 0.089 0.0872604 0.1282 0.0357 0.0562 0.112 0.0869 0.13 0.04 0.08 0.08 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495598 NA NA NA NA ID=COSN163399;OCCURENCE=1(breast) 0.058 NA 3.8718 1265 2 165364887 165364887 G A intronic GRB14 NA NA NA intronic ENSG00000115290 NA NA NA NA NA 2q24.3 NA NA NA NA rs8192674 0.09 0.09 0.074 0.0944489 0.1282 0.0129 0.1945 0.0696 0.1063 0.13 0.01 0.16 0.07 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863532 NA NA NA NA NA 0.152 NA 3.8718 1265 3 195974181 195974181 T C intronic PCYT1A NA NA NA intronic ENSG00000161217 NA NA NA NA NA 3q29 NA NA NA NA rs2280525 0.11 0.11 0.109 0.114816 0.1282 0.0833 0.1023 0.0802 0.1892 0.13 0.09 0.11 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950301 NA NA NA NA NA 0.087 NA 3.8718 1265 4 70288577 70288577 T C intergenic UGT2B28,UGT2B4 dist=127809;dist=57306 NA NA ncRNA_intronic ENSG00000249956 NA NA NA NA NA 4q13.2 NA NA NA NA rs10021273 0.07 0.07 0.058 0.0632987 0.1282 NA 0.0648 0.0408 0.091 0.12 NA 0.09 0.04 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16912 NA NA NA NA NA 0.145 NA 3.8718 1265 7 150720071 150720071 G A intronic ATG9B NA NA NA intronic ENSG00000181652 NA NA NA NA NA 7q36.1 NA NA NA NA rs11760487 0.07 0.07 0.077 0.0970447 0.1282 0.0099 0.0879 0.0499 0.2249 0.13 0.01 0.08 0.06 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824254 NA NA NA NA NA 0.152 NA 3.8718 1265 8 69728008 69728008 A G intronic C8orf34 NA NA NA intronic ENSG00000165084 NA NA NA NA NA 8q13.2 NA NA NA NA rs16935099 0.19 0.19 0.209 0.21865 0.1282 0.4276 0.1311 0.1233 0.2873 0.12 0.41 0.11 0.11 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016285 NA NA NA NA ID=COSN168340;OCCURENCE=1(large_intestine) 0.145 NA 3.8718 1265 9 137671814 137671814 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs34589987 0.16 0.16 0.173 0.180911 0.1282 0.1458 0.0793 0.3109 0.1677 0.13 0.11 0.07 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623886 NA NA NA NA NA 0.261 NA 3.8718 1265 11 51393840 51393840 A G intergenic LOC646813,OR4A5 dist=1014038;dist=17538 NA NA ncRNA_exonic ENSG00000255078 NA NA NA NA NA 11p11.12 NA NA NA NA rs12422078 0.12 0.12 0.098 0.112819 0.1282 0.1438 0.1023 0.0575 0.1472 0.13 0.15 0.09 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.323965 NA NA NA NA NA 0.123 NA 3.8718 1265 16 29852860 29852860 C T intronic MVP NA NA NA intronic ENSG00000013364 NA NA NA NA NA 16p11.2 NA NA NA NA rs3815824 0.13 0.13 0.125 0.128794 0.1282 0.0357 0.085 0.2458 0.0982 0.13 0.04 0.1 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243406 NA NA NA NA NA 0.167 NA 3.8718 1265 19 52003090 52003090 C T intronic SIGLEC12 NA NA NA intronic ENSG00000254521 NA NA NA NA NA 19q13.41 NA NA NA NA rs45554634 0.11 0.11 0.113 0.0922524 0.1282 NA 0.072 0.1921 0.0297 0.13 NA 0.09 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492773 NA NA NA NA NA 0.152 NA 3.8718 1265 20 47628363 47628363 G A intronic ARFGEF2 NA NA NA intronic ENSG00000124198 NA NA NA NA NA 20q13.13 NA NA NA NA rs1535268 0.2 0.2 0.167 0.197085 0.1282 0.3938 0.268 0.0038 0.2761 0.14 0.42 0.22 0.01 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89461 NA NA NA NA NA 0.203 NA 3.8718 1265 15 34536143 34536143 G T intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs79436830 0.02 0.02 0.023 0.0217652 0.0497 NA 0.0317 0.003 0.0337 0.05 NA 0.02 NA 0.0383 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388876 NA NA 0.040251 0.005906 NA NA NA 3.871749 1265 19 32949099 32949099 C G intronic DPY19L3 NA NA NA intronic ENSG00000178904 NA NA NA NA NA 19q13.11 NA NA NA NA rs12327772 0.02 0.02 0.023 0.01877 0.0467 0.002 0.0231 0.0076 0.0194 0.05 0.0017 0.02 0.01 0.0351 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.58236 NA NA 0.046628 0.017038 NA 0.029 NA 3.871572 1265 14 106091697 106091697 T C intergenic TMEM121,ELK2AP dist=95158;dist=44217 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon2:c.A315G:p.P105P NA NA 14q32.33 NA NA NA NA rs56210451 0.34 0.34 0.287 NA NA NA NA NA NA 0.3 0.46 0.28 0.32 0.3192 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856362 NA NA 0.309979 0.293766 NA 0.297 NA 3.870821 1265 9 90262393 90262393 G A intronic DAPK1 NA NA NA intronic ENSG00000196730 NA NA NA NA NA 9q21.33 NA NA NA NA rs2274607 0.21 0.21 0.229 0.222244 0.1292 0.2054 0.1268 0.3865 0.181 0.13 0.22 0.15 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895582 NA NA NA NA NA 0.159 NA 3.8708 1265 15 31094000 31094000 C T intergenic LOC100288637,HERC2P10 dist=28791;dist=16239 NA NA ncRNA_intronic ENSG00000103832 NA NA NA NA NA 15q13.2 NA NA NA NA rs6493293 0.09 0.09 0.107 0.224241 0.1292 0.252 0.2161 0.2481 0.2669 0.04 0.07 0.07 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933369 NA NA NA NA NA 0.022 NA 3.8708 1265 16 29855731 29855731 G A intronic MVP NA NA NA intronic ENSG00000013364 NA NA NA NA NA 16p11.2 NA NA NA NA rs9939514 0.13 0.13 0.123 0.128594 0.1292 0.0357 0.085 0.2443 0.0982 0.13 0.04 0.1 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01786 NA NA NA NA NA 0.167 NA 3.8708 1265 17 27238075 27238075 G A intronic PHF12 NA NA NA intronic ENSG00000109118 NA NA NA NA NA 17q11.2 NA NA NA NA rs2277665 0.13 0.13 0.123 0.11901 0.1292 0.0506 0.1167 0.1989 0.0726 0.11 0.07 0.14 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445236 NA NA NA NA NA 0.145 NA 3.8708 1265 17 33486191 33486191 G A intronic UNC45B NA NA NA intronic ENSG00000141161 NA NA NA NA NA 17q12 NA NA NA NA rs2046237 0.19 0.19 0.179 0.202077 0.1292 0.1895 0.1153 0.357 0.1421 0.13 0.17 0.13 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.208672 2.208672 NA NA NA NA 0.225 NA 3.8708 1265 19 16090799 16090799 C T intergenic OR10H4,LINC00661 dist=30031;dist=35645 NA NA ncRNA_intronic ENSG00000267392 NA NA NA NA NA 19p13.12 NA NA NA NA rs12462827 0.27 0.27 0.277 0.303115 0.1292 0.5536 0.1297 0.3548 0.2771 0.13 0.51 0.1 0.34 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.900591 NA NA NA NA NA 0.196 NA 3.8708 1265 6 116277792 116277792 G A intronic FRK NA NA NA intronic ENSG00000111816 NA NA NA NA NA 6q22.1 NA NA NA NA rs17077423 0.09 0.09 0.071 0.0690895 0.0368 0.1379 0.1844 0.0098 0.0297 0.04 0.15 0.17 0.02 0.0646 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783219 NA NA 0.028256 0.009305 NA 0.043 NA 3.870344 1265 5 32058115 32058115 A G exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon11:c.A2106G:p.S702S exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon11:c.A2106G:p.S702S,ENSG00000133401:ENST00000438447:exon12:c.A2106G:p.S702S NA NA 5p13.3 NA Name=CTCF NA NA rs151861 0.89 0.89 0.891 0.878594 0.9433 0.7579 0.8948 0.9085 0.8845 0.94 0.8 0.91 0.89 0.9057 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804452 NA NA 0.947442 0.911938 NA 0.877 NA 3.8702246 1265 6 97578888 97578888 A G ncRNA_intronic MIR548H3 NA NA NA intronic ENSG00000186231 NA NA NA NA NA 6q16.1 NA NA NA NA rs2387931 0.38 0.38 0.395 0.417332 0.4632 0.245 0.3761 0.4599 0.5194 0.45 0.21 0.37 0.47 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283281 NA NA NA NA NA 0.471 NA 3.8701333 1265 5 179306517 179306517 A G intronic TBC1D9B NA NA NA intronic ENSG00000197226 NA NA NA NA NA 5q35.3 NA NA NA NA rs10073754 0.12 0.12 0.1 0.1252 0.1302 0.1438 0.147 0.0764 0.1513 0.12 0.16 0.15 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201721 NA NA NA NA NA 0.138 NA 3.8698 1265 6 32441126 32441126 C T intergenic HLA-DRA,HLA-DRB5 dist=28300;dist=44028 NA NA ncRNA_intronic ENSG00000196301 NA NA NA NA NA 6p21.32 NA NA NA NA rs13217979 0.08 0.08 0.051 0.0748802 0.1302 0.0417 0.0836 0.0514 0.0777 0.13 0.04 0.09 0.06 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139543 NA NA NA NA NA 0.065 NA 3.8698 1265 20 5990625 5990625 T C intronic CRLS1 NA NA NA intronic ENSG00000088766 NA NA NA NA NA 20p12.3 NA NA NA NA rs6085346 0.07 0.07 0.062 0.0559105 0.1302 0.0099 0.0922 0.0182 0.0521 0.13 0.01 0.11 0.03 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791172 NA NA NA NA NA 0.072 NA 3.8698 1265 22 17446914 17446914 T G intronic GAB4 NA NA NA intronic ENSG00000215568 NA NA NA NA NA 22q11.1 NA NA NA NA rs5748766 0.21 0.21 0.214 0.204073 0.1302 0.3859 0.1254 0.2352 0.1063 0.12 0.36 0.12 0.26 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136157 NA NA NA NA NA 0.188 NA 3.8698 1265 22 50306969 50306969 G A intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs56248708 0.11 0.11 0.12 0.110623 0.1302 0.0546 0.0865 0.1339 0.1339 0.14 0.06 0.1 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003 NA NA NA NA NA 0.203 NA 3.8698 1265 9 75445494 75445494 C T intronic TMC1 NA NA NA intronic ENSG00000165091 NA NA NA NA NA 9q21.13 NA NA NA NA rs13286809 0.07 0.07 0.085 0.0752796 0.0437 0.0208 0.0432 0.2057 0.0102 0.04 0.02 0.05 0.19 0.0468 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262815 NA NA 0.039884 0.180209 NA 0.116 NA 3.869616 1265 6 152472660 152472660 T A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.1 NA NA NA NA rs2348080 0.04 0.04 0.035 0.0317492 0.0487 0.001 0.0476 0.0446 0.0174 0.04 NA 0.06 0.05 0.0384 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178535 NA NA 0.043382 0.043804 NA 0.036 NA 3.869518 1265 5 149439458 149439458 T G intronic CSF1R NA NA NA intronic ENSG00000182578 NA NA NA NA NA 5q32 NA NA NA NA rs3733671 0.08 0.08 0.092 0.0882588 0.0298 0.126 0.0187 0.1445 0.0828 0.03 0.12 0.02 0.16 0.06 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388846 NA NA 0.040698 0.115524 NA 0.08 NA 3.869502 1265 17 45885687 45885687 A G exonic OSBPL7 NA synonymous SNV OSBPL7:NM_145798:exon23:c.T2499C:p.Y833Y exonic ENSG00000006025 NA synonymous SNV ENSG00000006025:ENST00000007414:exon23:c.T2499C:p.Y833Y,ENSG00000006025:ENST00000392507:exon23:c.T2499C:p.Y833Y Score=517;Name=lod=169 NA 17q21.32 NA NA NA NA rs9907142 0.86 0.86 0.846 0.836661 0.9473 0.8165 0.8718 0.7685 0.8108 0.95 0.8 0.88 0.8 0.9032 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244635 1.244635 NA 0.946977 0.831366 NA 0.87 NA 3.8691896 1265 16 74394671 74394671 T C ncRNA_exonic LOC283922 NA NA NA ncRNA_exonic ENSG00000214331 NA NA NA NA NA 16q23.1 NA NA NA NA rs62055171 NA NA 0.21 0.34984 0.3946 0.2341 0.2997 0.4228 0.3599 NA NA NA NA 0.4029 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096155 NA NA NA NA NA 0.065 NA 3.8691666 1265 10 12160632 12160632 T C intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA NA NA NA rs112318056 0.17 0.17 0.151 0.167532 0.1312 0.0278 0.0922 0.4085 0.0767 0.13 0.03 0.1 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81707 NA NA NA NA NA 0.326 NA 3.8688 1265 10 49445850 49445850 T C intronic FRMPD2 NA NA NA intronic ENSG00000170324 NA NA NA NA NA 10q11.22 NA NA NA NA rs68069145 0.1 0.1 0.091 0.100839 0.1312 0.0754 0.0692 0.1044 0.1135 0.14 0.06 0.07 0.1 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235997 NA NA NA NA NA 0.167 NA 3.8688 1265 11 83674180 83674180 T A intronic DLG2 NA NA NA intronic ENSG00000150672 NA NA NA NA NA 11q14.1 NA NA NA NA rs7952093 0.13 0.13 0.142 0.126997 0.1312 NA 0.0706 0.298 0.0624 0.12 NA 0.09 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.085501 NA NA NA NA NA 0.116 NA 3.8688 1265 13 23808914 23808914 A C intronic SGCG NA NA NA intronic ENSG00000102683 NA NA NA NA NA 13q12.12 NA NA NA NA rs4769246 0.18 0.18 0.162 0.159744 0.1312 0.2946 0.1009 0.1483 0.1074 0.15 0.29 0.1 0.15 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.14123 NA NA NA NA NA 0.116 NA 3.8688 1265 14 22892139 22892139 C T intergenic OR4E2,DAD1 dist=757901;dist=141668 NA NA ncRNA_intronic ENSG00000251002 NA NA NA NA NA 14q11.2 NA NA NA NA rs75422358 0.17 0.17 0.101 0.159944 0.1312 0.1806 0.2349 0.1823 0.0849 0.13 0.18 0.18 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604695 NA NA NA NA NA 0.123 NA 3.8688 1265 19 43454014 43454014 G A intergenic PSG7,PSG11 dist=12684;dist=57795 NA NA ncRNA_intronic ENSG00000227349 NA NA NA NA NA 19q13.31 NA NA NA NA rs117988926 0.1 0.1 0.071 0.0910543 0.1312 0.003 0.2089 0.0492 0.1135 0.14 0.0017 0.2 0.07 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169962 NA NA NA NA NA 0.159 NA 3.8688 1265 20 34572834 34572834 G A intronic CNBD2 NA NA NA intronic ENSG00000149646 NA NA NA NA NA 20q11.23 NA NA NA NA rs6141583 0.14 0.14 0.141 0.160543 0.1312 0.2272 0.134 0.0991 0.2239 0.12 0.18 0.16 0.1 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269099 NA NA NA NA NA 0.087 NA 3.8688 1265 20 40081702 40081702 C T intronic CHD6 NA NA NA intronic ENSG00000124177 NA NA NA NA NA 20q12 NA NA NA NA rs62208497 0.06 0.06 0.058 0.0599042 0.1312 0.005 0.0533 0.0083 0.1176 0.13 NA 0.06 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733628 NA NA NA NA NA 0.065 NA 3.8688 1265 4 100263942 100263942 C T intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 Score=717;Name=V$BRACH_01 NA NA NA rs1789912 0.24 0.24 0.215 0.214657 0.4046 0.0764 0.2723 0.0998 0.2761 0.41 0.07 0.31 0.12 0.3431 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878644 NA NA 0.383605 0.149569 NA 0.21 NA 3.868695 1265 6 31133663 31133663 T C intronic POU5F1 NA NA NA UTR5 ENSG00000204531 ENST00000513407:c.-247A>G NA NA NA NA 6p21.33 NA NA NA NA rs45438402 0.09 0.09 0.074 0.08127 0.1123 0.0347 0.1383 0.0666 0.0767 0.12 0.04 0.15 0.06 0.0994 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637909 NA NA 0.086744 0.05901 NA 0.051 NA 3.8682227 1265 5 13817825 13817825 T C intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs17265718 0.02 0.02 0.009 0.0203674 0.0437 NA 0.0216 0.0038 0.0389 0.05 NA 0.02 0.01 0.0406 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.446171 1.446171 NA 0.047791 0.008625 NA 0.007 NA 3.867909 1265 11 1471095 1471095 C T intronic BRSK2 NA NA NA intronic ENSG00000174672 NA NA NA NA NA 11p15.5 NA NA NA NA rs117021012 0.02 0.02 0.013 0.0147764 0.0388 0.001 0.0202 0.003 0.0164 0.04 NA 0.03 0.002 0.0376 0.056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355274 NA NA 0.055717 0.013028 NA 0.014 NA 3.867883 1265 9 133505952 133505952 C G intronic FUBP3 NA NA NA intronic ENSG00000107164 NA NA NA NA NA 9q34.12 NA NA NA NA rs2304810 0.18 0.18 0.16 0.209465 0.1322 0.1111 0.2349 0.3185 0.2249 0.13 0.12 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157628 NA NA NA NA NA 0.225 NA 3.8678 1265 11 117100029 117100029 G A intronic PCSK7 NA NA NA intronic ENSG00000160613 NA NA NA NA NA 11q23.3 NA NA NA NA rs4938362 0.16 0.16 0.157 0.180711 0.1322 0.0685 0.2176 0.2958 0.1646 0.13 0.09 0.19 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647626 NA NA NA NA NA 0.123 NA 3.8678 1265 12 6705380 6705380 C T intronic CHD4 NA NA NA intronic ENSG00000111642 NA NA NA NA NA 12p13.31 NA NA NA NA rs66627071 0.11 0.11 0.114 0.119209 0.1322 0.004 0.0663 0.2073 0.1431 0.13 0.0017 0.09 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184921 NA NA NA NA NA 0.138 NA 3.8678 1265 22 50507094 50507094 T C intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs111258391 0.11 0.11 0.091 0.13139 0.1322 0.0923 0.1758 0.059 0.2372 0.13 0.1 0.16 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788828 NA NA NA NA NA 0.058 NA 3.8678 1265 9 131745548 131745548 T C intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA NA Name=10 NA rs719703 0.29 0.29 0.268 0.271965 0.4076 0.253 0.402 0.087 0.3098 0.41 0.23 0.39 0.11 0.3482 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746532 NA NA 0.376512 0.125057 NA 0.348 NA 3.867688 1265 20 1291018 1291018 G A ncRNA_exonic FKBP1A-SDCBP2 NA NA NA UTR3 ENSG00000125775 ENST00000360779:c.*67C>T,ENST00000339987:c.*67C>T,ENST00000381812:c.*67C>T,ENST00000381808:c.*67C>T NA NA NA NA 20p13 NA NA NA NA rs11449 0.32 0.32 0.299 0.31869 0.329 0.4206 0.3285 0.174 0.3916 0.34 0.43 0.3 0.16 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284009 NA NA 0.303459 0.209538 NA 0.377 NA 3.867541 1265 6 30230128 30230128 T C ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2523745 0.34 0.34 0.273 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 0.3143 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194795 NA NA 0.238372 0.273718 NA 0.348 NA 3.8674946 1265 2 168931610 168931610 G A intronic STK39 NA NA NA intronic ENSG00000198648 NA NA NA NA NA 2q24.3 NA NA NA NA rs3739115 0.1 0.1 0.094 0.101837 0.0318 0.1954 0.1182 0.031 0.1616 0.04 0.23 0.12 0.04 0.0747 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.151877 2.151877 NA 0.026043 0.030326 NA 0.014 NA 3.867457 1265 1 21799414 21799414 G A intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs78430674 0.05 0.05 0.047 0.0467252 0.0388 NA 0.0346 0.112 0.0235 0.04 NA 0.04 0.1 0.0441 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575476 NA NA 0.049884 0.108488 NA 0.065 NA 3.867216 1265 7 139727043 139727043 T C intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs113550438 0.06 0.06 0.067 0.0738818 0.0408 NA 0.0375 0.2073 0.0297 0.04 NA 0.03 0.18 0.0482 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.1307 NA NA 0.044186 0.185202 NA 0.072 NA 3.866814 1265 1 200969983 200969983 T C intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs6656481 0.37 0.37 0.355 0.388978 0.1332 0.4474 0.2061 0.7526 0.2301 0.13 0.45 0.2 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080837 NA NA NA NA NA 0.312 NA 3.8668 1265 2 136511951 136511951 G C intronic UBXN4 NA NA NA intronic ENSG00000144224 NA NA NA NA NA 2q21.3 NA NA NA NA rs7609188 0.19 0.19 0.193 0.241214 0.1332 0.1825 0.2695 0.298 0.316 0.13 0.16 0.22 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502484 NA NA NA NA NA 0.196 NA 3.8668 1265 6 155486643 155486643 A G intronic TIAM2 NA NA NA intronic ENSG00000146426 NA NA NA NA NA 6q25.2 NA NA NA NA rs73795328 0.08 0.08 0.069 0.0571086 0.1332 0.001 0.0951 0.0514 0.0174 0.13 0.0017 0.1 0.07 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116707 NA NA NA NA NA 0.065 NA 3.8668 1265 12 1005162 1005162 T C intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA NA NA NA rs35956200 0.11 0.11 0.104 0.108626 0.1332 0.1081 0.0793 0.0635 0.1656 0.13 0.1 0.1 0.07 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330766 NA NA NA NA ID=COSN164107;OCCURENCE=1(breast) 0.203 NA 3.8668 1265 13 23708518 23708518 G A intergenic BASP1P1,SGCG dist=236198;dist=46542 NA NA ncRNA_exonic ENSG00000233440 NA NA NA NA NA 13q12.12 NA NA NA NA rs9510592 0.1 0.1 0.11 0.081869 0.1332 NA 0.0879 0.112 0.0685 0.13 NA 0.11 0.15 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245839 NA NA NA NA NA 0.181 NA 3.8668 1265 14 77950585 77950585 A G intronic ISM2 NA NA NA intronic ENSG00000100593 NA NA NA NA NA 14q24.3 NA NA NA NA rs73316987 0.15 0.15 0.144 0.16234 0.1332 0.0149 0.2075 0.3094 0.1135 0.14 0.02 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491143 NA NA NA NA NA 0.181 NA 3.8668 1265 19 50542359 50542359 G A intronic ZNF473 NA NA NA intronic ENSG00000142528 NA NA NA NA NA 19q13.33 NA NA NA NA rs2278283 0.19 0.19 0.19 0.170527 0.1332 0.3393 0.1254 0.1301 0.1217 0.15 0.33 0.14 0.15 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051154 NA NA NA NA NA 0.188 NA 3.8668 1265 22 50507064 50507064 G C intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs75474964 0.11 0.11 0.088 0.131589 0.1332 0.0923 0.1758 0.059 0.2372 0.13 0.1 0.16 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703723 NA NA NA NA NA 0.036 NA 3.8668 1265 11 5142270 5142270 T G intergenic OR52E2,OR52A5 dist=61413;dist=10652 NA NA ncRNA_exonic ENSG00000205494 NA NA NA NA NA 11p15.4 NA NA NA NA rs10837375 0.72 0.72 0.723 0.735224 0.7147 0.5675 0.7161 0.8896 0.7342 0.71 0.58 0.72 0.91 0.7149 0.91 0.29 T 0.001 B 0.0 B . . 0.996 P . . . . -1.030 T 0.000 T . 1.537 11.09 3.0 0.418 -0.077 8.408 1.536902 1.536902 0.91 0.703816 0.868242 NA 0.761 NA 3.866584 1265 6 116757557 116757557 T C exonic DSE NA synonymous SNV DSE:NM_001080976:exon6:c.T1926C:p.N642N,DSE:NM_013352:exon6:c.T1926C:p.N642N exonic ENSG00000111817 NA synonymous SNV ENSG00000111817:ENST00000359564:exon6:c.T1926C:p.N642N,ENSG00000111817:ENST00000452085:exon6:c.T1926C:p.N642N,ENSG00000111817:ENST00000537543:exon6:c.T1983C:p.N661N,ENSG00000111817:ENST00000331677:exon7:c.T1926C:p.N642N Score=598;Name=lod=360 NA 6q22.1 NA NA NA NA rs560644 0.96 0.96 0.97 0.976038 0.9155 0.998 0.9726 0.9977 0.9888 0.91 1 0.96 1 0.9529 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199605 NA NA 0.931744 0.98502 NA 0.928 NA 3.8665226 1265 1 156352396 156352396 C T intronic RHBG NA NA NA UTR3 ENSG00000132677 ENST00000537040:c.*327C>T NA NA NA NA 1q22 NA NA NA NA rs872120 0.36 0.36 0.352 0.347444 0.3002 0.3542 0.389 0.3949 0.2955 0.3 0.35 0.41 0.39 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010305 NA NA NA NA NA 0.406 NA 3.8664667 1265 19 56423668 56423668 G A exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon5:c.C1515T:p.I505I exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon5:c.C1515T:p.I505I,ENSG00000173572:ENST00000588751:exon5:c.C1515T:p.I505I NA NA 19q13.43 NA NA NA NA rs304001 0.62 0.62 0.633 0.648363 0.5905 0.7302 0.5014 0.6861 0.6769 0.58 0.71 0.53 0.66 0.6011 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3061 NA NA 0.608837 0.664548 NA 0.725 NA 3.8662296 1265 15 85438132 85438132 T C intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA NA NA NA rs7166440 0.05 0.05 0.036 0.0441294 0.0497 0.001 0.0375 0.0885 0.0276 0.04 NA 0.05 0.1 0.0405 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461746 NA NA 0.043615 0.089424 NA 0.043 NA 3.866185 1265 4 2177929 2177929 G A intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA NA NA rs6823382 0.23 0.23 0.226 0.239816 0.0716 0.3413 0.1787 0.3888 0.1503 0.07 0.34 0.18 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623874 NA NA 0.062225 0.339595 NA 0.232 NA 3.866175 1265 1 94526044 94526044 A G intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs56197337 0.05 0.05 0.05 0.0543131 0.0408 0.0298 0.0706 0.0756 0.0532 0.04 0.02 0.04 0.1 0.0491 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29968 1.29968 NA 0.04407 0.069224 NA 0.145 NA 3.86603 1265 12 48888689 48888689 C G exonic C12orf54 NA synonymous SNV C12orf54:NM_152319:exon8:c.C351G:p.L117L exonic ENSG00000177627 NA synonymous SNV ENSG00000177627:ENST00000549398:exon3:c.C183G:p.L61L,ENSG00000177627:ENST00000548364:exon7:c.C351G:p.L117L,ENSG00000177627:ENST00000314014:exon8:c.C351G:p.L117L NA NA 12q13.11 NA NA NA NA rs9268 0.38 0.38 0.39 0.316893 0.6421 0.1766 0.3689 0.1248 0.3497 0.65 0.22 0.4 0.15 0.5012 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307055 NA NA 0.657442 0.218566 NA 0.449 NA 3.8659246 1265 1 227239739 227239739 T A intronic CDC42BPA NA NA NA intronic ENSG00000143776 NA NA NA NA NA 1q42.13 NA NA NA NA rs55865118 0.12 0.12 0.131 0.124002 0.1342 NA 0.0879 0.2905 0.0419 0.13 NA 0.1 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.980231 1.980231 NA NA NA NA 0.145 NA 3.8658 1265 3 183773250 183773250 C T intronic HTR3C NA NA NA intronic ENSG00000178084 NA NA NA NA NA 3q27.1 NA NA NA NA rs56333453 0.09 0.09 0.072 0.0814696 0.1342 0.0308 0.1182 0.0666 0.0736 0.14 0.03 0.1 0.06 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208496 NA NA NA NA NA 0.065 NA 3.8658 1265 4 56737489 56737489 G A intronic EXOC1 NA NA NA intronic ENSG00000090989 NA NA NA NA NA 4q12 NA NA NA NA rs73238378 0.24 0.24 0.219 0.222843 0.1342 0.5169 0.1888 0.1067 0.1922 0.14 0.49 0.17 0.14 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489003 NA NA NA NA NA 0.21 NA 3.8658 1265 9 137733937 137733937 T G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs12554062 0.15 0.15 0.129 0.139377 0.1342 0.1895 0.0879 0.1596 0.1022 0.12 0.21 0.09 0.15 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784372 NA NA NA NA NA 0.203 NA 3.8658 1265 11 49168612 49168612 T C intronic FOLH1 NA NA NA intronic ENSG00000086205 NA NA NA NA NA 11p11.12 NA NA NA NA rs598841 0.17 0.17 0.138 0.172724 0.1342 0.1577 0.1239 0.2943 0.0982 0.13 0.15 0.11 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373285 NA NA NA NA NA 0.145 NA 3.8658 1265 15 79215238 79215238 T C intronic CTSH NA NA NA intronic ENSG00000103811 NA NA NA NA NA 15q25.1 NA NA NA NA rs2289691 0.16 0.16 0.154 0.144968 0.1342 0.2629 0.1326 0.1165 0.0818 0.14 0.27 0.12 0.11 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410921 NA NA NA NA NA 0.145 NA 3.8658 1265 16 71787918 71787918 G C intronic AP1G1 NA NA NA intronic ENSG00000166747 NA NA NA NA NA 16q22.2 NA NA NA NA rs3764309 0.13 0.13 0.12 0.170128 0.1342 0.1756 0.1081 0.0333 0.4305 0.14 0.19 0.12 0.04 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657247 NA NA NA NA NA 0.116 NA 3.8658 1265 19 43453831 43453831 G A intergenic PSG7,PSG11 dist=12501;dist=57978 NA NA ncRNA_exonic ENSG00000227349 NA NA NA NA NA 19q13.31 NA NA NA NA rs148983800 0.1 0.1 0.052 0.0916534 0.1342 0.004 0.2089 0.0484 0.1135 0.14 0.0017 0.19 0.07 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864066 NA NA NA NA NA 0.065 NA 3.8658 1265 19 54743056 54743056 C T intronic LILRA6 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs10401694 0.12 0.12 0.116 0.171526 0.1342 0.006 0.1455 0.2209 0.3323 0.13 0.0035 0.12 0.24 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341108 NA NA NA NA NA 0.181 NA 3.8658 1265 22 36933283 36933283 T C intergenic EIF3D,CACNG2 dist=8006;dist=23633 NA NA ncRNA_intronic ENSG00000188078 NA NA NA NA NA 22q12.3 NA NA NA NA rs8140727 0.1 0.1 0.063 0.0834665 0.1342 0.002 0.2334 0.0325 0.0777 0.14 0.0017 0.22 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729237 NA NA NA NA NA 0.101 NA 3.8658 1265 22 46674639 46674639 G A intronic TTC38 NA NA NA intronic ENSG00000075234 NA NA NA NA NA 22q13.31 NA NA NA NA rs6008473 0.18 0.18 0.194 0.197684 0.1342 0.0069 0.1167 0.5257 0.0736 0.13 0.01 0.14 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812966 NA NA NA NA NA 0.254 NA 3.8658 1265 1 223990623 223990623 G A intronic TP53BP2 NA NA NA intronic ENSG00000143514 NA NA NA NA NA 1q41 NA NA NA NA rs77933928 0.02 0.02 0.018 0.0177716 0.0487 NA 0.0202 0.0023 0.0235 0.05 NA 0.01 0.0041 0.0377 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.949629 2.949629 NA 0.048023 0.008852 NA 0.014 NA 3.865577 1265 7 56155519 56155519 G A intronic PHKG1 NA NA NA intronic ENSG00000164776 NA NA NA NA NA 7p11.2 NA NA NA NA rs72499804 0.04 0.04 0.019 0.0375399 0.0427 0.0119 0.111 0.0045 0.0511 0.04 0.01 0.1 0.01 0.0493 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07895 NA NA 0.042538 0.011264 NA 0.022 NA 3.865462 1265 10 6066195 6066195 T A intronic IL2RA NA NA NA intronic ENSG00000134460 NA NA NA NA NA 10p15.1 NA Name=c-Myc NA NA rs12358961 0.35 0.35 0.342 0.320288 0.4006 0.4067 0.5245 0.1097 0.2883 0.39 0.4 0.49 0.12 0.3608 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606277 NA NA 0.37314 0.14798 ID=COSN163542;OCCURENCE=1(breast) 0.333 NA 3.86546 1265 6 30231108 30231108 G T ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA NA NA NA rs2516699 0.34 0.34 0.294 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 0.3143 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.971342 NA NA 0.240465 0.278711 NA 0.377 NA 3.8654016 1265 6 30230085 30230085 T C ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA NA NA NA rs2523746 0.34 0.34 0.284 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 0.3143 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293921 NA NA 0.240581 0.278484 NA 0.384 NA 3.8652856 1265 2 86346180 86346180 G A intronic PTCD3 NA NA NA intronic ENSG00000132300 NA NA NA NA NA 2p11.2 NA NA NA NA rs2303339 0.1 0.1 0.11 0.090655 0.0398 0.1389 0.0389 0.1755 0.0153 0.04 0.15 0.04 0.17 0.0526 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592685 NA NA 0.042442 0.150704 NA 0.065 NA 3.865158 1265 6 30231071 30231071 G A ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA NA NA NA rs2516700 0.34 0.34 0.303 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 0.3145 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210415 NA NA 0.240581 0.278711 NA 0.377 NA 3.8650856 1266 4 184250520 184250520 C T intergenic CLDN24,CDKN2AIP dist=6941;dist=115269 NA NA ncRNA_exonic ENSG00000238596 NA NA NA NA NA 4q35.1 NA NA NA NA rs35577734 0.08 0.08 0.076 0.0712859 0.1352 0.0833 0.0461 0.0038 0.1022 0.13 0.09 0.05 0.0041 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798846 NA NA NA NA NA 0.043 NA 3.8648 1266 8 54445600 54445600 T C intergenic OPRK1,ATP6V1H dist=281406;dist=182503 NA NA ncRNA_intronic ENSG00000240919 NA NA NA NA NA 8q11.23 NA NA NA NA rs4873758 0.14 0.14 0.112 0.135383 0.1352 0.1964 0.2478 0.0091 0.1636 0.14 0.22 0.19 0.03 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788953 NA NA NA NA NA 0.094 NA 3.8648 1266 5 7899844 7899844 A G intronic MTRR NA NA NA intronic ENSG00000124275 NA NA NA NA NA 5p15.31 NA NA NA NA rs327592 0.23 0.23 0.232 0.253195 0.1352 0.1696 0.3516 0.4365 0.1431 0.13 0.18 0.31 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155903 NA NA NA NA NA 0.348 NA 3.8648 1266 6 7569326 7569326 C T intronic DSP NA NA NA intronic ENSG00000096696 NA NA NA NA NA 6p24.3 NA NA NA NA rs11755954 0.07 0.07 0.053 0.0491214 0.1352 NA 0.0634 0.0272 0.0307 0.13 NA 0.09 0.04 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335951 NA NA NA NA NA 0.051 NA 3.8648 1266 6 38850576 38850576 G A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs72852777 0.18 0.18 0.168 0.164137 0.1352 0.1696 0.2522 0.1596 0.1319 0.14 0.19 0.23 0.19 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64397 NA NA NA NA NA 0.246 NA 3.8648 1266 11 16847558 16847558 A G intronic PLEKHA7 NA NA NA intronic ENSG00000166689 NA NA NA NA NA 11p15.1 NA NA NA NA rs400458 0.18 0.18 0.2 0.195088 0.1352 0.1637 0.2032 0.3079 0.1309 0.12 0.17 0.19 0.26 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573152 NA NA NA NA NA 0.239 NA 3.8648 1266 11 124946930 124946930 G A intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs7103889 0.24 0.24 0.204 0.227236 0.1352 0.5863 0.17 0.0303 0.2587 0.15 0.59 0.16 0.05 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554869 NA NA NA NA NA 0.159 NA 3.8648 1266 12 125497313 125497313 C T intronic BRI3BP NA NA NA intronic ENSG00000184992 NA NA NA NA NA 12q24.31 NA NA NA NA rs11057985 0.13 0.13 0.132 0.123802 0.1352 0.1468 0.1585 0.0696 0.137 0.15 0.13 0.17 0.08 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13564 NA NA NA NA NA 0.072 NA 3.8648 1266 17 10249087 10249087 G A intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs1812043 0.31 0.31 0.21 0.317891 0.1352 0.5427 0.268 0.3268 0.2975 0.13 0.56 0.26 0.33 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.859937 NA NA NA NA NA 0.319 NA 3.8648 1266 22 45996110 45996110 A G intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs2071871 0.31 0.31 0.338 0.354034 0.1352 0.1796 0.219 0.7821 0.2761 0.13 0.17 0.25 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144108 NA NA NA NA NA 0.283 NA 3.8648 1266 1 224468921 224468921 C T intronic NVL NA NA NA intronic ENSG00000143748 NA NA NA NA NA 1q42.11 NA NA NA NA rs79564051 0.07 0.07 0.068 0.0694888 0.0318 0.1131 0.0245 0.0802 0.0808 0.03 0.11 0.03 0.09 0.0518 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300392 NA NA 0.052093 0.076487 NA 0.036 NA 3.864307 1266 9 71865932 71865932 G A intronic TJP2 NA NA NA intronic ENSG00000119139 NA NA NA NA Name=Renal sinus fat 9q21.11 NA NA NA NA rs2282335 0.33 0.33 0.338 0.359824 0.3847 0.1696 0.2637 0.475 0.4427 0.38 0.17 0.26 0.48 0.3704 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697851 NA NA 0.380698 0.452565 NA 0.457 NA 3.864202 1266 1 205764433 205764433 A C intronic SLC41A1 NA NA NA intronic ENSG00000133065 NA NA NA NA NA 1q32.1 NA NA NA NA rs56052552 0.02 0.02 0.025 0.028155 0.0577 0.0079 0.0173 0.0053 0.0573 0.05 0.0017 0.01 0.01 0.0364 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040134 NA NA 0.041744 0.011348 NA 0.007 NA 3.864156 1266 15 51529265 51529265 T C intronic CYP19A1 NA NA NA ncRNA_intronic ENSG00000259240 NA NA NA NA NA 15q21.2 NA NA NA NA rs3759811 0.37 0.37 0.355 0.325679 0.4692 0.4375 0.3156 0.1619 0.2914 0.48 0.45 0.33 0.13 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477227 NA NA NA NA ID=COSN164939;OCCURENCE=1(breast) 0.29 NA 3.8641333 1266 11 12315716 12315716 C T exonic MICALCL NA synonymous SNV MICALCL:NM_032867:exon3:c.C738T:p.A246A exonic ENSG00000133808 NA synonymous SNV ENSG00000133808:ENST00000256186:exon3:c.C738T:p.A246A NA NA 11p15.3 Score=798;Name=V$OLF1_01 NA NA NA rs1493951 0.94 0.94 0.942 0.922724 0.9463 0.9415 0.9496 0.9085 0.8793 0.95 0.95 0.94 0.9 0.9269 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348604 NA NA 0.92939 0.916268 NA 0.964 NA 3.8640766 1266 1 22912910 22912910 C T intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA NA NA NA rs12034618 0.13 0.13 0.125 0.134185 0.1362 0.129 0.1513 0.0643 0.2198 0.14 0.12 0.16 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317806 NA NA NA NA NA 0.109 NA 3.8638 1266 1 27158844 27158844 G T intronic ZDHHC18 NA NA NA intronic ENSG00000204160 NA NA NA NA NA 1p36.11 NA NA NA NA rs34924059 0.09 0.09 0.072 0.0836661 0.1362 0.0327 0.0821 0.0734 0.0971 0.13 0.04 0.1 0.05 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757076 NA NA NA NA NA 0.058 NA 3.8638 1266 2 89428423 89428423 A G intergenic MIR4436A,NONE dist=316455;dist=NONE NA NA ncRNA_exonic ENSG00000254157 NA NA NA NA NA 2p11.2 NA NA NA NA rs28409615 0.3 0.3 0.285 0.382788 0.1362 0.4425 0.3184 0.6074 0.317 0.11 0.42 0.24 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.629764 NA NA NA NA NA 0.283 NA 3.8638 1266 3 3189060 3189060 G A intronic TRNT1 NA NA NA intronic ENSG00000072756 NA NA NA NA NA 3p26.2 NA NA NA NA rs2306767 0.15 0.15 0.115 0.15615 0.1362 0.0506 0.2147 0.2239 0.1524 0.15 0.05 0.22 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313137 NA NA NA NA NA NA NA 3.8638 1266 3 14763381 14763381 T A intronic C3orf20 NA NA NA intronic ENSG00000131379 NA NA NA NA NA 3p25.1 NA NA NA NA rs78080902 0.08 0.08 0.087 0.067492 0.1362 0.0446 0.0793 0.0076 0.093 0.13 0.06 0.09 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.077665 2.077665 NA NA NA NA 0.13 NA 3.8638 1266 3 183801709 183801709 C T intergenic HTR3C,HTR3E dist=23248;dist=13143 NA NA ncRNA_exonic ENSG00000233576 NA NA NA NA NA 3q27.1 NA NA NA NA rs62285842 0.08 0.08 0.067 0.0852636 0.1362 0.0159 0.0692 0.0643 0.1442 0.14 0.02 0.07 0.04 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003221 NA NA NA NA NA 0.051 NA 3.8638 1266 7 1478407 1478407 G A intronic MICALL2 NA NA NA intronic ENSG00000164877 NA NA NA NA NA 7p22.3 NA NA NA NA rs4307248 0.17 0.17 0.15 0.16853 0.1362 0.0288 0.281 0.2723 0.1258 0.14 0.04 0.28 0.27 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620362 NA NA NA NA NA 0.21 NA 3.8638 1266 7 38533972 38533972 A C intronic AMPH NA NA NA intronic ENSG00000078053 NA NA NA NA NA 7p14.1 NA NA NA NA rs3735089 0.11 0.11 0.105 0.0882588 0.1362 0.1567 0.1066 0.003 0.0706 0.13 0.17 0.1 NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555695 NA NA NA NA NA 0.043 NA 3.8638 1266 13 103279589 103279589 C G intronic TPP2 NA NA NA intronic ENSG00000134900 NA NA NA NA NA 13q33.1 NA NA NA NA rs16960258 0.16 0.16 0.163 0.169529 0.1362 0.1349 0.1081 0.2761 0.1391 0.13 0.13 0.13 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298906 NA NA NA NA NA 0.116 NA 3.8638 1266 15 34638342 34638342 G T intronic NUTM1 NA NA NA intronic ENSG00000184507 NA NA NA NA NA 15q14 NA NA NA NA rs12592913 0.2 0.2 0.191 0.19349 0.1362 0.3284 0.1801 0.1286 0.2106 0.14 0.35 0.17 0.14 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059917 NA NA NA NA ID=COSN164892;OCCURENCE=1(NS) 0.109 NA 3.8638 1266 16 57110635 57110635 C T intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs10500405 0.16 0.16 0.173 0.163538 0.1362 0.0456 0.1023 0.3343 0.1258 0.14 0.05 0.12 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176337 NA NA NA NA NA 0.181 NA 3.8638 1266 6 160888084 160888084 G A ncRNA_intronic LPAL2 NA NA NA ncRNA_intronic ENSG00000213071 NA NA NA NA NA 6q25.3 NA NA NA NA rs55873330 NA NA 0.433 0.889776 0.8032 0.999 0.8127 0.8933 0.9162 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056451 NA NA NA NA NA NA NA 3.8634666 1266 8 1857432 1857432 G A intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA NA NA rs117235646 0.03 0.03 0.024 0.0181709 0.0626 NA 0.0303 0.0023 0.0041 0.06 NA 0.04 NA 0.0307 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.271176 NA NA 0.043256 0.007944 NA 0.007 NA 3.863444 1266 22 46765025 46765025 G A intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA NA NA rs112949305 0.03 0.03 0.008 0.0203674 0.0517 NA 0.0331 0.0083 0.0164 0.04 NA 0.04 0.02 0.0348 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247252 NA NA 0.050116 0.011121 NA 0.029 NA 3.863384 1266 9 103015184 103015184 T C intronic INVS NA NA NA intronic ENSG00000119509 NA NA NA NA NA 9q31.1 NA NA NA NA rs2245216 0.24 0.24 0.206 0.210463 0.4175 0.1438 0.2305 0.1089 0.1892 0.42 0.11 0.27 0.11 0.3224 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044115 NA NA 0.396744 0.139809 ID=COSM150650;OCCURENCE=1(stomach) 0.261 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081626.1;CLNDSDB=.;CLNDSDBID=. 3.863356 1266 1 16351206 16351206 C T intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs9442215 0.08 0.08 0.092 0.107428 0.0706 0.0992 0.062 0.1248 0.1626 0.07 0.07 0.06 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492913 NA NA 0.066047 0.109018 NA 0.072 NA 3.863353 1266 14 78399867 78399867 T C UTR3 ADCK1 NM_020421:c.*133T>C,NM_001142545:c.*133T>C NA NA UTR3 ENSG00000063761 ENST00000238561:c.*133T>C,ENST00000341211:c.*133T>C NA NA NA NA 14q24.3 NA NA NA NA rs3087972 0.49 0.49 0.51 0.481629 0.4702 0.4315 0.3242 0.6944 0.3691 0.48 0.41 0.35 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083 NA NA NA NA NA 0.529 NA 3.8631334 1266 16 4790273 4790273 G A exonic C16orf71 NA synonymous SNV C16orf71:NM_139170:exon4:c.G396A:p.E132E exonic ENSG00000166246 NA synonymous SNV ENSG00000166246:ENST00000299320:exon4:c.G396A:p.E132E,ENSG00000166246:ENST00000586724:exon4:c.G396A:p.E132E,ENSG00000166246:ENST00000590191:exon4:c.G438A:p.E146E NA NA 16p13.3 NA NA NA NA rs859305 0.6 0.6 0.592 0.552716 0.6044 0.6806 0.5548 0.4644 0.4857 0.6 0.71 0.54 0.5 0.5847 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14181 NA NA 0.614535 0.517296 NA 0.558 NA 3.8630316 1266 12 94653227 94653227 T C intronic PLXNC1 NA NA NA intronic ENSG00000136040 NA NA NA Score=329;Name=lod=29 NA 12q22 NA NA NA NA rs2306664 0.55 0.55 0.535 0.548123 0.5855 0.4524 0.5793 0.6006 0.5153 0.58 0.45 0.57 0.6 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.757374 1.757374 NA 0.55154 0.642341 NA 0.478 NA 3.86296 1266 9 18639455 18639455 A G intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA NA NA NA rs702206 0.06 0.06 0.061 0.0626997 0.0497 NA 0.0432 0.1755 0.002 0.05 NA 0.04 0.16 0.0451 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842447 NA NA 0.042249 0.16069 NA 0.051 NA 3.862951 1266 1 236389926 236389926 T C intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs10924789 0.15 0.15 0.152 0.14377 0.0318 0.373 0.0778 0.1006 0.1278 0.03 0.4 0.06 0.1 0.0761 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307874 NA NA 0.0292 0.090164 NA 0.101 NA 3.8629 1266 1 151755284 151755284 C G intronic TDRKH NA NA NA intronic ENSG00000182134 NA NA NA NA NA 1q21.3 NA NA NA NA rs6681093 0.2 0.2 0.191 0.194688 0.1372 0.121 0.1499 0.3812 0.1094 0.14 0.12 0.16 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678953 NA NA NA NA NA 0.094 NA 3.8628 1266 3 125775061 125775061 C T intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs78137633 0.07 0.07 0.058 0.0529153 0.1372 0.001 0.0937 0.0061 0.0542 0.14 NA 0.1 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858221 NA NA NA NA NA 0.065 NA 3.8628 1266 4 110451678 110451678 C T intronic SEC24B NA NA NA intronic ENSG00000138802 NA NA NA NA NA 4q25 NA NA NA NA rs9994676 0.27 0.27 0.303 0.320887 0.1372 0.127 0.1225 0.8169 0.18 0.14 0.09 0.12 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455181 NA NA NA NA NA 0.435 NA 3.8628 1266 4 182444131 182444131 A G intergenic LINC00290,MGC45800 dist=363829;dist=616028 NA NA ncRNA_exonic ENSG00000225356 NA NA NA NA NA 4q34.3 NA NA NA NA rs11939305 0.13 0.13 0.13 0.123003 0.1372 0.1964 0.1052 0.0605 0.1299 0.15 0.19 0.12 0.07 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283606 NA NA NA NA NA 0.08 NA 3.8628 1266 5 149199889 149199889 G A intronic PPARGC1B NA NA NA intronic ENSG00000155846 NA NA NA NA NA 5q32 NA NA NA NA rs32589 0.14 0.14 0.142 0.166733 0.1372 0.0873 0.0836 0.2549 0.2188 0.13 0.08 0.09 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589419 NA NA NA NA NA 0.167 NA 3.8628 1266 7 104715018 104715018 A G intronic MLL5 NA NA NA intronic ENSG00000005483 NA NA NA NA NA 7q22.3 NA NA NA NA rs9641341 0.4 0.4 0.446 0.387181 0.1372 0.6329 0.245 0.6006 0.2035 0.12 0.69 0.25 0.6 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684808 NA NA NA NA NA 0.449 NA 3.8628 1266 8 29886141 29886141 G C intergenic MIR3148,MIR548O2 dist=71277;dist=34117 NA NA ncRNA_exonic ENSG00000254013 NA NA NA NA NA 8p12 NA NA NA NA rs17567833 0.06 0.06 0.066 0.0676917 0.1372 0.002 0.0548 0.0333 0.1196 0.14 NA 0.04 0.03 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290314 NA NA NA NA NA 0.058 NA 3.8628 1266 9 104390423 104390423 C T intronic GRIN3A NA NA NA intronic ENSG00000198785 NA NA NA NA NA 9q31.1 NA NA NA NA rs1004362 0.16 0.16 0.138 0.146565 0.1372 0.2361 0.1599 0.0719 0.1554 0.13 0.24 0.18 0.08 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188878 NA NA NA NA NA 0.167 NA 3.8628 1266 12 2018987 2018987 A G intronic CACNA2D4 NA NA NA intronic ENSG00000151062 NA NA NA NA NA 12p13.33 NA NA NA NA rs34288687 0.25 0.25 0.218 0.235823 0.1372 0.5228 0.1671 0.0809 0.2996 0.13 0.57 0.17 0.12 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728956 NA NA NA NA NA 0.254 NA 3.8628 1266 12 42853520 42853520 A G UTR3 PRICKLE1 NM_153026:c.*91T>C,NM_001144882:c.*91T>C,NM_001144883:c.*91T>C,NM_001144881:c.*91T>C NA NA ncRNA_exonic ENSG00000257225 NA NA NA NA NA 12q12 NA NA NA NA rs1043652 0.68 0.68 0.695 0.721046 0.6372 0.744 0.6225 0.7943 0.7546 0.64 0.7 0.58 0.78 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.669062 1.669062 NA NA NA NA 0.732 NA 3.8628 1266 18 33269267 33269267 A C intronic GALNT1 NA NA NA intronic ENSG00000141429 NA NA NA NA NA 18q12.2 NA NA NA NA rs3737382 0.09 0.09 NA 0.10643 0.0517 0.0585 0.0865 0.2179 0.0757 0.06 0.07 0.09 0.18 0.0855 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84467 NA NA NA NA NA 0.08 NA 3.8628 1266 21 43829346 43829346 C G intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA NA NA NA rs2277802 0.14 0.14 0.132 0.150559 0.1372 0.0952 0.268 0.1324 0.1626 0.13 0.08 0.24 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071919 NA NA NA NA NA 0.196 NA 3.8628 1266 2 33586610 33586610 A G intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs77815980 0.02 0.02 0.017 0.0251597 0.0477 0.001 0.0461 0.0023 0.0429 0.05 NA 0.02 0.002 0.0444 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992027 NA NA 0.045116 0.009305 NA NA NA 3.862784 1266 1 156352351 156352351 G A intronic RHBG NA NA NA UTR3 ENSG00000132677 ENST00000537040:c.*282G>A NA NA NA NA 1q22 NA NA NA NA rs1408828 0.36 0.36 0.355 0.349641 0.3042 0.3542 0.4006 0.3949 0.2945 0.31 0.35 0.43 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148338 NA NA NA NA NA 0.471 NA 3.8624667 1266 6 36931162 36931162 A G exonic PI16 NA synonymous SNV PI16:NM_153370:exon5:c.A1044G:p.E348E,PI16:NM_001199159:exon6:c.A1044G:p.E348E exonic ENSG00000164530 NA synonymous SNV ENSG00000164530:ENST00000373674:exon5:c.A1044G:p.E348E NA NA 6p21.2 NA NA NA NA rs2296934 0.62 0.62 0.588 0.598442 0.6143 0.4871 0.7205 0.6256 0.5736 0.62 0.54 0.7 0.66 0.5943 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.363737 NA NA 0.596047 0.607354 ID=COSM1131883;OCCURENCE=1(prostate) 0.565 NA 3.8620196 1266 19 12014820 12014820 C G intronic ZNF69 NA NA NA intronic ENSG00000198429 NA NA NA NA NA 19p13.2 NA NA NA NA rs28588743 0.09 0.09 0.097 0.111422 0.0437 0.0079 0.0519 0.3079 0.0644 0.03 0.01 0.06 0.32 0.0569 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796092 NA NA 0.037386 0.2797 NA 0.08 NA 3.862014 1266 21 44430139 44430139 T C intronic PKNOX1 NA NA NA intronic ENSG00000160199 NA NA NA NA NA 21q22.3 NA NA NA NA rs17178939 0.02 0.02 0.02 0.0147764 0.0467 NA 0.0086 0.0023 0.0184 0.05 NA 0.01 0.002 0.0385 0.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119462 NA NA 0.052907 0.007717 NA 0.014 NA 3.861893 1266 22 46668352 46668352 A G intronic TTC38 NA NA NA intronic ENSG00000075234 NA NA NA NA NA 22q13.31 NA NA NA NA rs73177060 0.13 0.13 0.134 0.155551 0.0358 NA 0.062 0.5068 0.0307 0.02 NA 0.06 0.49 0.0672 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485562 NA NA 0.035134 0.420358 NA 0.217 NA 3.861866 1266 1 35926150 35926150 T C intronic KIAA0319L NA NA NA intronic ENSG00000142687 NA NA NA NA NA 1p34.3 NA NA NA NA rs1768560 0.54 0.54 0.575 0.55631 0.1382 0.7738 0.4481 0.9478 0.3098 0.13 0.8 0.42 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.080943 NA NA NA NA NA 0.449 NA 3.8618 1266 2 15746220 15746220 C T intronic DDX1 NA NA NA intronic ENSG00000079785 NA NA NA NA NA 2p24.3 NA NA NA NA rs41264195 0.18 0.18 0.18 0.167133 0.1382 0.373 0.111 0.0295 0.2106 0.15 0.39 0.13 0.03 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.997798 NA NA NA NA NA 0.152 NA 3.8618 1266 2 165586346 165586346 A T intronic COBLL1 NA NA NA intronic ENSG00000082438 NA NA NA NA NA 2q24.3 NA NA NA NA rs28651164 0.1 0.1 0.098 0.0994409 0.1382 0.003 0.085 0.1573 0.091 0.13 NA 0.1 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.720633 1.720633 NA NA NA NA 0.08 NA 3.8618 1266 3 4703657 4703657 T A intronic ITPR1 NA NA NA intronic ENSG00000150995 NA NA NA NA NA 3p26.1 NA NA NA NA rs6801737 0.15 0.15 0.103 0.165136 0.1382 0.1806 0.1945 0.0242 0.3466 0.17 0.17 0.22 0.03 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.843211 1.843211 NA NA NA NA 0.072 NA 3.8618 1266 4 100232624 100232624 T G intronic ADH1B NA NA NA intronic ENSG00000196616 NA NA NA NA NA 4q23 NA NA NA NA rs13133908 0.06 0.06 0.062 0.0441294 0.1382 NA 0.0706 0.0015 0.0317 0.14 NA 0.08 NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350854 NA NA NA NA NA 0.036 NA 3.8618 1266 5 96116286 96116286 A G intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs67140788 0.06 0.06 0.045 0.0599042 0.1382 NA 0.1153 0.0053 0.0757 0.13 NA 0.12 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132785 NA NA NA NA NA 0.152 NA 3.8618 1266 5 118347119 118347119 C G intergenic DTWD2,DMXL1 dist=22879;dist=59965 NA NA ncRNA_intronic ENSG00000249494 NA NA NA NA NA 5q23.1 NA NA NA NA rs299215 0.27 0.27 0.276 0.244409 0.1382 0.4802 0.3501 0.1846 0.1166 0.14 0.49 0.27 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64432 NA NA NA NA NA 0.181 NA 3.8618 1266 5 147261484 147261484 C T intronic SCGB3A2 NA NA NA intronic ENSG00000164265 NA NA NA NA NA 5q32 NA NA NA NA rs3910207 0.2 0.2 0.18 0.199281 0.1382 0.1528 0.3271 0.2814 0.1084 0.14 0.14 0.29 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174743 NA NA NA NA NA 0.159 NA 3.8618 1266 6 38781749 38781749 C T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs12524938 0.11 0.11 0.078 0.0876597 0.1382 0.0198 0.2349 0.0598 0.0389 0.14 0.02 0.22 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187077 NA NA NA NA NA 0.196 NA 3.8618 1266 11 122666790 122666790 C T intronic UBASH3B NA NA NA intronic ENSG00000154127 NA NA NA NA NA 11q24.1 NA NA NA NA rs4936746 0.14 0.14 0.132 0.132987 0.1382 0.0903 0.2305 0.1679 0.0552 0.13 0.1 0.23 0.15 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128488 NA NA NA NA NA 0.058 NA 3.8618 1266 13 103486912 103486912 C T intronic BIVM,BIVM-ERCC5 NA NA NA intronic ENSG00000134897,ENSG00000270181 NA NA NA NA NA 13q33.1 NA NA NA NA rs76812904 0.05 0.05 0.034 0.0445288 0.0537 0.0546 0.0231 0.034 0.0542 0.06 0.06 0.04 0.04 0.0444 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485822 NA NA 0.040126 0.042442 NA 0.022 NA 3.861774 1266 6 39046871 39046871 C T intronic GLP1R NA NA NA intronic ENSG00000112164 NA NA NA NA NA 6p21.2 NA NA NA NA rs761386 0.1 0.1 0.077 0.0980431 0.0338 0.2024 0.183 0.0333 0.0838 0.03 0.21 0.16 0.04 0.0755 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201277 NA NA 0.028953 0.030867 NA 0.087 NA 3.861747 1266 14 76549752 76549752 G A intronic IFT43 NA NA NA intronic ENSG00000119650 NA NA NA NA NA 14q24.3 NA NA Name=2 NA rs8536 0.32 0.32 0.288 0.295527 0.3946 0.3968 0.3732 0.0605 0.3517 0.42 0.39 0.35 0.08 0.3584 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071598 NA NA 0.385465 0.113709 NA 0.326 NA 3.861535 1266 7 102616469 102616469 G A intronic FBXL13 NA NA NA ncRNA_intronic ENSG00000230257 NA NA NA NA NA 7q22.1 NA Name=E2F6_(H-50),HEY1 Name=2 NA rs2228687 0.78 0.78 0.747 0.778554 0.8201 0.8413 0.8329 0.5787 0.9029 0.81 0.86 0.8 0.61 0.827 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597805 NA NA 0.824976 0.649975 NA 0.783 NA 3.8612573 1266 17 7499349 7499349 G A intronic FXR2 NA NA NA intronic ENSG00000129245 NA NA NA NA NA 17p13.1 NA NA NA NA rs16956822 0.09 0.09 0.07 0.115415 0.0288 0.2381 0.2651 0.031 0.0859 0.03 0.18 0.15 0.02 0.0808 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364022 1.364022 NA 0.029152 0.033865 NA 0.036 NA 3.861248 1266 11 5373646 5373646 T C exonic OR51B6 NA synonymous SNV OR51B6:NM_001004750:exon1:c.T909C:p.R303R exonic ENSG00000176239 NA synonymous SNV ENSG00000176239:ENST00000380219:exon1:c.T909C:p.R303R NA NA 11p15.4 NA NA NA NA rs5024041 0.58 0.58 0.577 0.603634 0.6054 0.5466 0.5692 0.5764 0.7219 0.59 0.55 0.6 0.58 0.6038 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051441 NA NA 0.596275 0.579773 NA 0.587 NA 3.8611916 1266 3 4403818 4403818 T C UTR3 SUMF1 NM_001164674:c.*10A>G,NM_001164675:c.*10A>G,NM_182760:c.*10A>G NA NA UTR3 ENSG00000144455 ENST00000272902:c.*10A>G,ENST00000383843:c.*10A>G,ENST00000458465:c.*10A>G,ENST00000405420:c.*10A>G NA NA NA NA 3p26.1 NA NA NA NA rs35083095 0.43 0.43 0.416 0.432109 0.5129 0.5873 0.5173 0.1891 0.4571 0.46 0.54 0.48 0.21 0.4936 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.207335 NA NA 0.465698 0.20699 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082712.1;CLNDSDB=.;CLNDSDBID=. 3.8611354 1266 22 32617062 32617062 G A intronic SLC5A4 NA NA NA ncRNA_intronic ENSG00000242082 NA NA NA NA NA 22q12.3 NA NA NA NA rs5998317 0.46 0.46 0.481 0.503594 0.4722 0.1607 0.3703 0.9191 0.4223 0.46 0.14 0.38 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047551 NA NA NA NA NA 0.536 NA 3.8611333 1266 7 139662072 139662072 T C intronic TBXAS1 NA NA NA intronic ENSG00000059377 NA NA NA NA NA 7q34 NA NA NA NA rs2072179 0.07 0.07 0.061 0.0686901 0.0447 0.1528 0.1167 0.0038 0.0603 0.05 0.13 0.1 0.01 0.0546 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374651 NA NA 0.039651 0.00749 NA 0.087 NA 3.861049 1266 6 30228416 30228416 T C ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2523750 0.34 0.34 0.276 0.397764 0.2465 0.5308 0.4496 0.3003 0.5112 0.22 0.48 0.4 0.3 0.3148 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671088 NA NA 0.244461 0.275862 NA 0.37 NA 3.8609056 1266 19 56423692 56423692 C T exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon5:c.G1491A:p.T497T exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon5:c.G1491A:p.T497T,ENSG00000173572:ENST00000588751:exon5:c.G1491A:p.T497T NA NA 19q13.43 NA NA NA NA rs304000 0.64 0.64 0.645 0.661342 0.5915 0.7302 0.5043 0.733 0.6769 0.58 0.71 0.53 0.72 0.6052 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404141 NA NA 0.60907 0.706537 NA 0.732 NA 3.8608966 1266 1 210273886 210273886 A T intronic SYT14 NA NA NA intronic ENSG00000143469 NA NA NA NA NA 1q32.2 NA NA NA NA rs2494187 0.08 0.08 0.064 0.0738818 0.1392 0.0486 0.0677 0.0083 0.1258 0.14 0.06 0.09 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.426247 NA NA NA NA NA 0.138 NA 3.8608 1266 2 86712731 86712731 G C intronic KDM3A NA NA NA intronic ENSG00000115548 NA NA NA NA NA 2p11.2 NA NA NA NA rs72932310 0.14 0.14 0.139 0.132188 0.1392 NA 0.0865 0.3328 0.0225 0.14 NA 0.09 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005994 NA NA NA NA NA 0.196 NA 3.8608 1266 2 203200960 203200960 G A intergenic NOP58,BMPR2 dist=32576;dist=40090 NA NA ncRNA_exonic ENSG00000226261 NA NA NA NA NA 2q33.1 NA NA NA NA rs113188021 0.11 0.11 0.077 0.133586 0.1392 0.123 0.1484 0.0386 0.2566 0.14 0.1 0.15 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295662 NA NA NA NA NA 0.065 NA 3.8608 1266 3 10077023 10077023 T C intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA NA NA NA rs17032277 0.18 0.18 0.186 0.182109 0.1392 0.0486 0.1614 0.3623 0.135 0.15 0.07 0.18 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764309 NA NA NA NA NA 0.348 NA 3.8608 1266 4 81002230 81002230 G A intergenic ANTXR2,PRDM8 dist=7753;dist=104194 NA NA ncRNA_exonic ENSG00000236530 NA NA NA NA NA 4q21.21 NA NA NA NA rs2867697 0.45 0.45 0.459 0.495607 0.1392 0.6369 0.3314 0.8011 0.4202 0.13 0.65 0.31 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458828 NA NA NA NA NA 0.536 NA 3.8608 1266 5 7865891 7865891 C A intronic FASTKD3 NA NA NA intronic ENSG00000124279 NA NA NA NA NA 5p15.31 NA NA NA NA rs16879258 0.11 0.11 0.109 0.114417 0.1392 0.0486 0.1182 0.174 0.0736 0.13 0.03 0.12 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504796 NA NA NA NA NA 0.123 NA 3.8608 1266 13 111335319 111335319 C T intronic CARS2 NA NA NA intronic ENSG00000134905 NA NA NA NA NA 13q34 NA NA NA NA rs61971611 0.09 0.09 0.091 0.0680911 0.1392 0.0813 0.062 0.0197 0.0511 0.14 0.09 0.07 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853505 NA NA NA NA NA 0.051 NA 3.8608 1266 14 23886264 23886264 C T intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs3729825 0.14 0.14 0.15 0.136981 0.1392 0.002 0.0893 0.3419 0.0307 0.13 0.0017 0.11 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831108 NA NA NA NA NA 0.261 NA 3.8608 1266 16 74877844 74877844 G A intergenic FA2H,WDR59 dist=69115;dist=29627 NA NA downstream ENSG00000261458 NA NA NA NA NA 16q23.1 NA NA Name=13 NA rs7186814 0.67 0.67 0.64 0.671526 0.6392 0.8522 0.7435 0.4894 0.7137 0.65 0.86 0.71 0.45 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083166 NA NA NA NA NA 0.674 NA 3.8608 1266 19 5707628 5707628 G A intronic LONP1 NA NA NA intronic ENSG00000196365 NA NA NA NA NA 19p13.3 NA NA NA NA rs3737237 0.09 0.09 0.086 0.0896565 0.1392 0.0536 0.1686 0.0136 0.1227 0.13 0.07 0.15 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667261 NA NA NA NA NA 0.101 NA 3.8608 1266 20 2473587 2473587 A T intronic ZNF343 NA NA NA intronic ENSG00000088876,ENSG00000256566 NA NA NA NA NA 20p13 NA NA NA NA rs41308639 0.13 0.13 0.137 0.141573 0.1392 0.1042 0.1023 0.1641 0.18 0.14 0.11 0.1 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322308 NA NA NA NA NA 0.138 NA 3.8608 1266 5 140683265 140683265 G A exonic SLC25A2 NA synonymous SNV SLC25A2:NM_031947:exon1:c.C168T:p.A56A exonic ENSG00000120329 NA synonymous SNV ENSG00000120329:ENST00000239451:exon1:c.C168T:p.A56A NA NA 5q31.3 NA NA NA NA rs11952797 0.53 0.53 0.519 0.515375 0.6123 0.5873 0.5317 0.3215 0.592 0.58 0.59 0.54 0.38 0.5802 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.368517 NA NA 0.613372 0.351112 NA 0.464 NA 3.8607946 1266 22 46780621 46780621 G C intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA NA NA rs111348923 0.02 0.02 0.014 0.0183706 0.0507 NA 0.0288 0.0053 0.0143 0.04 NA 0.03 0.01 0.0366 0.052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683944 NA NA 0.051977 0.009991 NA 0.022 NA 3.860723 1266 19 53158924 53158924 C T UTR5 ZNF83 NM_001242538:c.-41107G>A,NM_001242531:c.-41107G>A,NM_001277945:c.-41107G>A,NM_001277946:c.-41107G>A,NM_001277947:c.-41107G>A,NM_001277949:c.-41107G>A NA NA UTR5 ENSG00000167766 ENST00000600714:c.-20591G>A,ENST00000601257:c.-20591G>A,ENST00000594682:c.-20591G>A,ENST00000598536:c.-20591G>A NA NA NA NA 19q13.41 NA NA NA NA rs3745105 0.59 0.59 0.553 0.577676 0.4732 0.7044 0.6412 0.6203 0.4519 0.48 0.72 0.57 0.62 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.526032 NA NA NA NA NA 0.486 NA 3.8601334 1266 1 55518093 55518093 G A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs11800243 0.04 0.04 0.038 0.0391374 0.0527 0.0268 0.0403 0.0257 0.0552 0.05 0.03 0.04 0.03 0.0424 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208021 NA NA 0.044767 0.047662 NA 0.022 NA 3.860133 1266 9 140846956 140846956 G A intronic CACNA1B NA NA NA intronic ENSG00000148408 NA NA NA NA NA 9q34.3 NA NA NA NA rs41277867 0.19 0.19 0.178 0.192492 0.1402 0.4385 0.072 0.1067 0.1943 0.14 0.44 0.06 0.1 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100767 NA NA NA NA NA 0.058 NA 3.8598 1266 12 48457339 48457339 A C intronic SENP1 NA NA NA intronic ENSG00000079387 NA NA NA NA NA 12q13.11 NA NA NA NA rs3742075 0.19 0.19 0.198 0.189297 0.1402 0.1458 0.1052 0.3396 0.1411 0.14 0.18 0.1 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243885 NA NA NA NA NA 0.246 NA 3.8598 1266 14 69529031 69529031 T C intronic DCAF5 NA NA NA intronic ENSG00000139990 NA NA NA NA NA 14q24.1 NA NA NA NA rs72718277 0.07 0.07 0.054 0.081869 0.1402 0.002 0.085 0.0325 0.1687 0.12 NA 0.1 0.04 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563679 NA NA NA NA NA 0.138 NA 3.8598 1266 14 100182082 100182082 T C intronic CYP46A1 NA NA NA intronic ENSG00000036530 NA NA NA NA NA 14q32.2 NA NA NA NA rs3752957 0.15 0.15 0.123 0.138179 0.1402 0.1627 0.1888 0.0938 0.135 0.13 0.16 0.19 0.12 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330674 NA NA NA NA NA 0.094 NA 3.8598 1266 15 48797124 48797124 T A intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA NA NA rs35464791 0.1 0.1 0.081 0.101238 0.1402 0.123 0.111 0.0219 0.1391 0.14 0.11 0.12 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.878941 NA NA NA NA NA 0.051 NA 3.8598 1266 15 66850503 66850503 G A intronic LCTL NA NA NA intronic ENSG00000188501 NA NA NA NA NA 15q22.31 NA NA NA NA rs67124721 0.11 0.11 0.122 0.0910543 0.1402 0.0417 0.134 0.0772 0.0798 0.15 0.05 0.15 0.09 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438865 NA NA NA NA NA 0.196 NA 3.8598 1266 18 70416119 70416119 T C intronic NETO1 NA NA NA intronic ENSG00000166342 NA NA NA NA NA 18q22.3 NA NA NA NA rs11872857 0.11 0.11 0.112 0.126797 0.1402 0.0109 0.1066 0.1906 0.1605 0.13 0.01 0.11 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236825 NA NA NA NA NA 0.203 NA 3.8598 1266 19 43453968 43453968 G T intergenic PSG7,PSG11 dist=12638;dist=57841 NA NA ncRNA_intronic ENSG00000227349 NA NA NA NA NA 19q13.31 NA NA NA NA rs10401410 0.28 0.28 0.246 0.326278 0.1402 0.4206 0.2147 0.4244 0.3671 0.14 0.41 0.17 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286146 NA NA NA NA NA 0.029 NA 3.8598 1266 19 43453970 43453970 C T intergenic PSG7,PSG11 dist=12640;dist=57839 NA NA ncRNA_intronic ENSG00000227349 NA NA NA NA NA 19q13.31 NA NA NA NA rs55698945 0.23 0.23 0.189 0.269968 0.1402 0.4206 0.1931 0.2224 0.3671 0.14 0.41 0.14 0.22 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349639 NA NA NA NA NA NA NA 3.8598 1266 22 24891355 24891355 A T UTR5 UPB1 NM_016327:c.-17A>T NA NA UTR5 ENSG00000100024 ENST00000413389:c.-49A>T,ENST00000415388:c.-17A>T,ENST00000326010:c.-17A>T,ENST00000382760:c.-17A>T NA NA NA NA 22q11.23 NA NA NA NA rs2070475 0.15 0.15 0.13 0.15595 0.172 0.3085 0.1599 0.0083 0.1789 0.17 0.25 0.14 0.01 0.1541 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084999 NA NA 0.147476 0.035633 NA 0.087 NA 3.8597574 1266 20 58466998 58466998 T A intronic SYCP2 NA NA NA intronic ENSG00000196074 NA NA NA NA NA 20q13.33 NA NA NA NA rs34313076 0.02 0.02 0.021 0.0235623 0.0417 0.001 0.0231 0.0008 0.0593 0.04 0.0017 0.04 0.002 0.0445 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169064 NA NA 0.054108 0.011364 NA 0.022 NA 3.859692 1266 2 36806051 36806051 A G intronic FEZ2 NA NA NA intronic ENSG00000171055 NA NA NA NA NA 2p22.2 NA Name=STAT3 NA NA rs2072533 0.49 0.49 0.517 0.475839 0.3966 0.6478 0.3357 0.5862 0.3303 0.4 0.62 0.32 0.6 0.3889 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287374 NA NA 0.354913 0.533693 ID=COSN166063;OCCURENCE=1(breast) 0.558 NA 3.859587 1266 8 101163658 101163658 T C intronic POLR2K NA NA NA intronic ENSG00000147669 NA NA NA NA NA 8q22.2 NA NA NA NA rs3752833 0.05 0.05 0.04 0.043131 0.0507 0.0565 0.085 0.0015 0.0481 0.05 0.06 0.07 0.0041 0.0475 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.280774 3.280774 NA 0.042326 0.008398 NA 0.022 NA 3.859474 1266 1 55518287 55518287 G A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs11800265 0.04 0.04 0.034 0.0391374 0.0537 0.0298 0.0418 0.0212 0.0562 0.05 0.04 0.04 0.03 0.0424 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173437 NA NA 0.044429 0.040682 NA 0.014 NA 3.859471 1266 6 32805306 32805306 C T intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA NA NA NA rs2071467 0.07 0.07 0.053 0.0654952 0.0417 0.1538 0.0548 0.0083 0.0838 0.05 0.15 0.06 0.01 0.0619 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258035 NA NA 0.036977 0.011802 NA 0.065 NA 3.859423 1266 6 30229280 30229280 C A ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2508027 0.3 0.3 0.273 0.396166 0.2465 0.5308 0.4496 0.3003 0.5031 0.19 0.44 0.35 0.26 0.3149 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.271342 1.271342 NA 0.246032 0.278954 NA NA NA 3.8592346 1266 17 45821510 45821510 T C intronic TBX21 NA NA NA intronic ENSG00000073861 NA NA NA NA NA 17q21.32 NA NA NA NA rs16946878 0.04 0.04 0.033 0.0377396 0.0398 NA 0.0548 0.0749 0.0123 0.03 NA 0.06 0.07 0.046 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.226823 NA NA 0.055 0.07626 NA 0.014 NA 3.8592 1266 20 33342477 33342477 G A intronic NCOA6 NA NA NA intronic ENSG00000198646 NA NA NA NA NA 20q11.22 NA Name=MafK_(ab50322),EBF1_(C-8) NA NA rs6087625 0.31 0.31 0.311 0.288938 0.3936 0.2639 0.2378 0.2065 0.3548 0.4 0.29 0.28 0.2 0.3562 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.572297 NA NA 0.391047 0.251929 NA 0.399 NA 3.859153 1266 3 49866392 49866392 C T UTR3 TRAIP NM_005879:c.*144G>A NA NA UTR3 ENSG00000183763 ENST00000331456:c.*144G>A NA NA NA NA 3p21.31 NA NA NA NA rs1128535 0.39 0.39 0.415 0.418131 0.4742 0.1657 0.3559 0.6263 0.3834 0.46 0.17 0.34 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519855 NA NA NA NA NA 0.362 NA 3.8591334 1266 1 156618768 156618768 T G intronic BCAN NA NA NA ncRNA_intronic ENSG00000229953 NA NA NA NA NA 1q23.1 NA NA NA NA rs4661209 0.54 0.54 0.579 0.610423 0.4742 0.4038 0.4669 0.8949 0.681 0.47 0.39 0.43 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356937 NA NA NA NA NA 0.688 NA 3.8591333 1266 2 241537421 241537421 G A exonic CAPN10 NA synonymous SNV CAPN10:NM_023085:exon8:c.G1395A:p.A465A,CAPN10:NM_023083:exon10:c.G1860A:p.A620A exonic ENSG00000142330 NA synonymous SNV ENSG00000142330:ENST00000352879:exon2:c.G258A:p.A86A,ENSG00000142330:ENST00000354082:exon8:c.G1395A:p.A465A,ENSG00000142330:ENST00000391984:exon10:c.G1860A:p.A620A,ENSG00000142330:ENST00000404753:exon10:c.G1860A:p.A620A NA NA 2q37.3 NA NA NA NA rs3749166 0.55 0.55 0.516 0.511781 0.6074 0.6488 0.5634 0.2897 0.5358 0.59 0.64 0.63 0.3 0.5811 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.827953 NA NA 0.61907 0.315395 NA 0.507 NA 3.8590966 1266 9 140623027 140623027 C T intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs3125782 0.11 0.11 0.139 0.133387 0.0408 0.002 0.0663 0.4365 0.002 0.04 0.0035 0.06 0.4 0.0617 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887692 NA NA 0.038488 0.384249 NA 0.167 NA 3.859012 1266 10 102783145 102783145 G C intronic PDZD7 NA NA NA UTR3 ENSG00000186862 ENST00000470414:c.*44C>G NA NA NA NA 10q24.31 NA NA NA NA rs3740496 0.21 0.21 0.216 0.229832 0.0775 0.1964 0.1816 0.5023 0.0869 0.08 0.23 0.14 0.47 0.1347 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870371 NA NA 0.095604 0.431911 NA 0.21 NA 3.8588627 1266 7 1524862 1524862 G A intronic INTS1 NA NA NA intronic ENSG00000164880 NA NA NA NA NA 7p22.3 NA NA NA NA rs111525228 0.04 0.04 0.03 0.043131 0.0477 0.0069 0.2017 0.0008 0.0204 0.05 0.0035 0.15 NA 0.0554 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.194211 NA NA 0.038043 0.01182 NA 0.022 NA 3.858857 1266 6 30229281 30229281 C T ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2508026 0.3 0.3 0.267 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.19 0.44 0.35 0.26 0.3155 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252042 1.252042 NA 0.245847 0.278954 NA NA NA 3.8588196 1266 3 10136150 10136150 C T intronic FANCD2,FANCD2OS NA NA NA intronic ENSG00000144554,ENSG00000163705 NA NA NA NA NA 3p25.3 NA NA NA NA rs7610821 0.23 0.23 0.241 0.241214 0.1412 0.0675 0.1974 0.5144 0.1851 0.15 0.1 0.2 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658174 NA NA NA NA NA 0.362 NA 3.8588 1266 9 138683575 138683575 T C intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA NA NA rs41299048 0.15 0.15 0.136 0.178514 0.1412 0.1042 0.1772 0.2073 0.2556 0.14 0.1 0.17 0.2 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183635 NA NA NA NA NA 0.217 NA 3.8588 1266 12 1016910 1016910 T C intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA NA NA NA rs2277869 0.14 0.14 0.15 0.158147 0.1412 0.1081 0.2017 0.1657 0.1861 0.15 0.1 0.18 0.15 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.346092 3.346092 NA NA NA NA 0.268 NA 3.8588 1266 17 38183090 38183090 G T intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA Name=YY1_(C-20) NA NA rs2302774 0.32 0.32 0.278 0.31869 0.3748 0.4226 0.4179 0.056 0.4387 0.37 0.41 0.43 0.07 0.3876 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065272 NA NA 0.378953 0.105992 NA 0.355 NA 3.858647 1266 11 62543960 62543960 T C intronic TAF6L NA NA NA intronic ENSG00000162227,ENSG00000168569 NA NA NA NA NA 11q12.3 NA NA NA NA rs567791 0.13 0.13 0.124 0.154752 0.0318 0.1548 0.049 0.3457 0.0982 0.03 0.14 0.05 0.32 0.0735 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.82784 2.82784 NA 0.036055 0.291231 NA 0.101 NA 3.858645 1266 19 14589417 14589417 A T intronic GIPC1 NA NA NA intronic ENSG00000123159 NA NA NA NA NA 19p13.12 NA NA NA NA rs75802787 0.07 0.07 0.063 0.0700879 0.0497 0.0308 0.1254 0.118 0.0276 0.04 0.03 0.11 0.12 0.0523 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242634 NA NA 0.039535 0.110304 NA 0.029 NA 3.858465 1266 1 224473849 224473849 A C intronic NVL NA NA NA intronic ENSG00000143748 NA NA NA NA NA 1q42.11 NA NA NA NA rs16846031 0.07 0.07 0.08 0.091853 0.0318 0.1131 0.0303 0.1619 0.0808 0.03 0.11 0.04 0.12 0.058 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549275 NA NA 0.051744 0.134589 NA 0.058 NA 3.858456 1266 19 19380596 19380596 G T intronic TM6SF2 NA NA NA ncRNA_intronic ENSG00000267629 NA NA NA NA NA 19p13.11 NA NA NA NA rs72999063 0.16 0.16 0.166 0.160343 0.168 0.0198 0.1268 0.295 0.1391 0.15 0.02 0.14 0.34 0.1507 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.488055 2.488055 NA 0.156265 0.275039 NA 0.246 NA 3.8583683 1266 3 137982718 137982718 T G intronic ARMC8,NME9 NA NA NA intronic ENSG00000114098,ENSG00000181322 NA NA NA NA NA 3q22.3 Score=824;Name=V$EVI1_04 NA NA NA rs939453 0.55 0.55 0.501 0.540136 0.5537 0.8234 0.6671 0.1505 0.6708 0.55 0.82 0.61 0.2 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.606114 2.606114 NA 0.587995 0.218931 NA 0.464 NA 3.858305 1266 6 30228938 30228938 T C ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2523747 0.34 0.34 0.301 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.41 0.3 0.3142 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042987 NA NA 0.247969 0.278623 NA 0.384 NA 3.8579976 1266 5 34810971 34810971 G A intronic RAI14 NA NA NA intronic ENSG00000039560 NA NA NA NA NA 5p13.2 NA NA NA NA rs111531050 0.08 0.08 0.066 0.0742812 0.1421 0.0109 0.0951 0.0091 0.1431 0.15 0.01 0.12 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994191 NA NA NA NA NA 0.065 NA 3.8579 1266 6 31246253 31246253 T C intergenic HLA-C,HLA-B dist=6340;dist=75396 NA NA ncRNA_exonic ENSG00000214892 NA NA NA NA NA 6p21.33 NA NA NA NA rs113056286 0.15 0.15 0.124 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.482229 1.482229 NA NA NA NA 0.109 NA 3.8579 1266 10 98282160 98282160 A G intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs17391197 0.08 0.08 0.078 0.0792732 0.1421 0.0149 0.072 0.056 0.1176 0.15 0.01 0.08 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.22294 NA NA NA NA NA 0.043 NA 3.8579 1266 11 47727590 47727590 A C intronic AGBL2 NA NA NA intronic ENSG00000165923 NA NA NA NA NA 11p11.2 NA NA NA NA rs17791016 0.23 0.23 0.208 0.219848 0.1421 0.2946 0.1974 0.3048 0.1237 0.15 0.32 0.2 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329949 NA NA NA NA NA 0.167 NA 3.8579 1266 11 130340682 130340682 G A intronic ADAMTS15 NA NA NA intronic ENSG00000166106 NA NA NA NA NA 11q24.3 NA NA NA NA rs7926619 0.09 0.09 0.091 0.0798722 0.1421 0.0089 0.085 0.1067 0.0491 0.14 0.01 0.09 0.12 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991791 NA NA NA NA NA 0.065 NA 3.8579 1266 16 21123188 21123188 C T intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs62034958 0.09 0.09 0.087 0.0850639 0.1421 0.1131 0.085 0.0083 0.1012 0.13 0.12 0.09 0.01 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894841 NA NA NA NA NA 0.087 NA 3.8579 1266 17 76129360 76129360 C T intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA NA NA NA rs9889313 0.18 0.18 0.2 0.195288 0.1421 0.1438 0.1196 0.3056 0.2076 0.14 0.15 0.15 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77273 NA NA NA NA NA 0.152 NA 3.8579 1266 19 49398847 49398847 A G intronic TULP2 NA NA NA intronic ENSG00000104804 NA NA NA NA NA 19q13.33 NA NA NA NA rs56146968 0.07 0.07 0.056 0.0589058 0.1421 0.001 0.0677 0.0227 0.0757 0.14 0.0017 0.08 0.02 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141503 NA NA NA NA NA 0.123 NA 3.8579 1266 19 49408943 49408943 T C intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs73063523 0.06 0.06 0.048 0.0533147 0.1421 0.001 0.062 0.0045 0.0757 0.14 0.0017 0.07 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302695 NA NA NA NA NA 0.116 NA 3.8579 1266 22 25255959 25255959 C T intronic SGSM1 NA NA NA intronic ENSG00000167037 NA NA NA NA NA 22q11.23 NA NA NA NA rs139702 0.27 0.27 0.267 0.326677 0.1421 0.254 0.2378 0.5492 0.3538 0.15 0.22 0.23 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193306 NA NA NA NA NA 0.362 NA 3.8579 1266 9 5762533 5762533 A C intronic KIAA1432 NA NA NA intronic ENSG00000107036 NA NA NA NA NA 9p24.1 NA NA Name=4 NA rs1543526 0.4 0.4 0.386 0.397764 0.3608 0.5774 0.3602 0.2352 0.4969 0.37 0.61 0.38 0.23 0.4043 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356635 NA NA 0.377093 0.234453 NA 0.449 NA 3.857807 1266 19 36259494 36259494 C A UTR3 C19orf55 NM_001039887:c.*47C>A NA NA UTR3 ENSG00000167595 ENST00000396908:c.*47C>A,ENST00000544099:c.*213C>A,ENST00000535581:c.*1328C>A NA NA NA NA 19q13.12 NA NA NA NA rs231216 0.45 0.45 0.329 0.228235 0.1252 0.2808 0.2608 0.3374 0.1094 0.27 0.56 0.47 0.61 0.3504 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.279382 NA NA NA NA NA 0.145 NA 3.8577334 1266 4 20611629 20611629 G A intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA NA NA rs3733510 0.07 0.07 0.059 0.0726837 0.0408 0.124 0.1398 0.0378 0.0521 0.04 0.13 0.11 0.03 0.059 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.197755 NA NA 0.042674 0.028597 NA 0.007 NA 3.857526 1266 17 4416635 4416635 C A intronic SPNS2 NA NA NA intronic ENSG00000183018 NA NA NA NA NA 17p13.2 NA NA NA NA rs77483673 0.02 0.02 0.02 0.0175719 0.0586 NA 0.0231 0.0023 0.0102 0.05 NA 0.03 0.002 0.0344 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855162 NA NA 0.049693 0.010842 NA 0.007 NA 3.857307 1266 1 55631650 55631650 G T intronic USP24 NA NA NA intronic ENSG00000162402 NA NA NA NA NA 1p32.3 NA NA NA NA rs17111697 0.11 0.11 0.113 0.124201 0.0328 0.0377 0.0403 0.3555 0.0542 0.04 0.05 0.05 0.34 0.0706 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654689 NA NA 0.039315 0.278339 NA 0.08 NA 3.857285 1266 7 30825229 30825229 C G ncRNA_intronic INMT-FAM188B NA NA NA intronic ENSG00000106125,ENSG00000254959 NA NA NA NA NA 7p14.3 NA NA NA NA rs2269921 0.41 0.41 0.392 0.442093 0.4761 0.1696 0.4193 0.584 0.5123 0.48 0.18 0.43 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.061603 NA NA NA NA NA 0.377 NA 3.8572333 1266 2 206605180 206605180 T G intronic NRP2 NA NA NA intronic ENSG00000118257 NA NA NA NA NA 2q33.3 NA NA NA NA rs849575 0.24 0.24 0.247 0.249401 0.1431 0.4544 0.1499 0.1944 0.2924 0.15 0.46 0.16 0.2 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493327 NA NA NA NA NA 0.203 NA 3.8569 1266 4 6062061 6062061 T C intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs28553970 0.23 0.23 0.256 0.285144 0.1431 0.001 0.1499 0.7413 0.2035 0.15 NA 0.13 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59248 NA NA NA NA NA 0.304 NA 3.8569 1266 4 79793707 79793707 C A intronic BMP2K NA NA NA intronic ENSG00000138756 NA NA NA NA NA 4q21.21 NA NA NA NA rs1061400 0.1 0.1 0.099 0.129393 0.1431 0.0893 0.1556 0.0272 0.2761 0.15 0.08 0.15 0.03 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948905 NA NA NA NA NA 0.13 NA 3.8569 1266 9 34098257 34098257 G C intronic DCAF12 NA NA NA intronic ENSG00000198876 NA NA NA NA NA 9p13.3 NA NA NA NA rs17341977 0.11 0.11 0.091 0.132987 0.1431 0.0675 0.1326 0.0469 0.3067 0.15 0.09 0.15 0.03 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928469 NA NA NA NA NA 0.116 NA 3.8569 1266 11 47736023 47736023 T C intronic AGBL2 NA NA NA intronic ENSG00000165923 NA NA NA NA NA 11p11.2 NA NA NA NA rs4752791 0.23 0.23 0.206 0.219249 0.1431 0.2946 0.1988 0.2995 0.1258 0.15 0.32 0.2 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628704 NA NA NA NA NA 0.167 NA 3.8569 1266 12 6103844 6103844 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs17491334 0.09 0.09 0.092 0.0876597 0.1431 0.001 0.1037 0.121 0.0634 0.14 NA 0.1 0.08 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060418 NA NA NA NA NA 0.145 NA 3.8569 1266 12 48528419 48528419 T C intronic PFKM NA NA NA intronic ENSG00000152556 NA NA NA NA NA 12q13.11 NA NA NA NA rs2286020 0.19 0.19 0.201 0.189097 0.1431 0.1409 0.1138 0.3381 0.138 0.15 0.17 0.1 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313483 NA NA NA NA NA 0.246 NA 3.8569 1266 15 65114363 65114363 G A intronic PIF1 NA NA NA intronic ENSG00000140451 NA NA NA NA NA 15q22.31 NA NA NA NA rs55736601 0.07 0.07 0.051 0.0407348 0.1431 NA 0.0591 0.0053 0.0123 0.15 NA 0.07 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015317 NA NA NA NA NA 0.101 NA 3.8569 1266 16 58292547 58292547 G A intronic CCDC113 NA NA NA intronic ENSG00000103021 NA NA NA NA NA 16q21 NA NA NA NA rs16959998 0.19 0.19 0.175 0.204273 0.1431 0.3383 0.2824 0.0265 0.3139 0.14 0.37 0.24 0.01 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285578 NA NA NA NA NA 0.159 NA 3.8569 1266 16 74660185 74660185 C T intronic RFWD3 NA NA NA intronic ENSG00000168411 NA NA NA NA NA 16q23.1 NA NA NA NA rs78219119 0.11 0.11 0.087 0.113818 0.1431 0.0437 0.2896 0.0514 0.1155 0.15 0.05 0.25 0.04 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167218 NA NA NA NA NA 0.109 NA 3.8569 1266 16 74702430 74702430 C T intergenic RFWD3,MLKL dist=1651;dist=3323 NA NA ncRNA_exonic ENSG00000262904 NA NA NA NA NA 16q23.1 NA NA NA NA rs4395097 0.11 0.11 0.08 0.116613 0.1431 0.005 0.2925 0.0908 0.1145 0.15 0.0017 0.25 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.461612 NA NA NA NA NA 0.13 NA 3.8569 1266 19 43430463 43430463 G A intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs112724259 0.11 0.11 0.096 0.107428 0.1431 0.003 0.2161 0.0893 0.1258 0.15 0.0017 0.21 0.12 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971562 NA NA NA NA NA 0.159 NA 3.8569 1266 19 43430945 43430945 G A intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs59007873 0.11 0.11 0.099 0.107628 0.1431 0.003 0.2176 0.0885 0.1268 0.15 0.0017 0.21 0.12 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94061 NA NA NA NA NA 0.167 NA 3.8569 1266 19 43433521 43433521 C T intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs111661802 0.11 0.11 0.093 0.107228 0.1431 0.003 0.2176 0.0885 0.1247 0.15 0.0017 0.21 0.11 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644331 NA NA NA NA NA 0.167 NA 3.8569 1266 19 43439490 43439490 T C intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs61433961 0.13 0.13 0.103 0.13778 0.1431 0.0109 0.2277 0.1921 0.1258 0.15 0.01 0.2 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394737 NA NA NA NA NA 0.138 NA 3.8569 1266 2 202436645 202436645 C T intronic ALS2CR11 NA NA NA intronic ENSG00000155754 NA NA NA NA NA 2q33.1 NA NA NA NA rs58588240 0.04 0.04 0.038 0.04373 0.0477 NA 0.0476 0.0991 0.0072 0.05 NA 0.04 0.07 0.0418 0.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025665 NA NA 0.053721 0.077621 NA 0.036 NA 3.856779 1266 16 20838553 20838553 A G intronic LOC81691 NA NA NA intronic ENSG00000005189,ENSG00000196678 NA NA NA NA NA 16p12.3 NA NA NA NA rs112541646 0.03 0.03 0.024 0.0197684 0.0577 NA 0.0331 0.003 0.0143 0.06 NA 0.03 0.002 0.0365 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488855 NA NA 0.049302 0.010223 NA 0.029 NA 3.856498 1266 9 136260696 136260696 G C intronic C9orf96 NA NA NA intronic ENSG00000198870 NA NA NA NA NA 9q34.2 NA Name=Pol2(phosphoS2) NA NA rs41306714 0.28 0.28 0.242 0.280152 0.3976 0.25 0.3617 0.0393 0.4581 0.41 0.24 0.35 0.07 0.3672 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190828 NA NA 0.379042 0.088743 NA 0.225 NA 3.856158 1266 6 30228379 30228379 A G ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA NA NA NA rs2516709 0.32 0.32 0.229 0.397364 0.2455 0.5308 0.4496 0.3003 0.5102 0.21 0.47 0.38 0.28 0.3176 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432586 NA NA 0.247415 0.279801 NA 0.348 NA 3.8561516 1266 1 16272409 16272409 C T intronic ZBTB17 NA NA NA intronic ENSG00000116809 NA NA NA NA NA 1p36.13 NA NA NA NA rs9429277 0.06 0.06 0.045 0.0782748 0.0726 0.0813 0.0548 0.0197 0.1769 0.08 0.06 0.05 0.03 0.0714 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636046 NA NA NA NA NA 0.043 NA 3.856 1266 6 151243234 151243234 C T intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA NA NA rs2295084 0.18 0.18 0.163 0.203674 0.1441 0.2411 0.2161 0.2012 0.2209 0.14 0.2 0.22 0.19 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.293652 NA NA NA NA NA 0.21 NA 3.8559 1266 7 111034910 111034910 G A intronic IMMP2L NA NA NA intronic ENSG00000184903 NA NA NA NA NA 7q31.1 NA NA NA NA rs37676 0.19 0.19 0.213 0.20647 0.1441 0.0337 0.1167 0.5151 0.0951 0.15 0.03 0.12 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262406 NA NA NA NA NA 0.312 NA 3.8559 1266 9 33933705 33933705 A G intronic UBAP2 NA NA NA intronic ENSG00000137073 NA NA NA NA NA 9p13.3 NA NA NA NA rs874572 0.11 0.11 0.093 0.134385 0.1441 0.0675 0.134 0.0477 0.3108 0.16 0.09 0.15 0.04 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10219 NA NA NA NA NA 0.109 NA 3.8559 1266 10 28345336 28345336 C T intronic MPP7 NA NA NA intronic ENSG00000150054 NA NA NA NA NA 10p12.1 NA NA NA NA rs61845094 0.08 0.08 0.074 0.067492 0.1441 0.0079 0.0692 0.0666 0.0501 0.14 0.01 0.08 0.06 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674747 NA NA NA NA NA 0.159 NA 3.8559 1266 12 113756706 113756706 C G intronic SLC24A6 NA NA NA intronic ENSG00000089060 NA NA NA NA NA 12q24.13 NA NA NA NA rs2288364 0.23 0.23 0.244 0.241414 0.1441 0.1984 0.1196 0.4546 0.184 0.15 0.22 0.12 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163995 NA NA NA NA NA 0.304 NA 3.8559 1266 17 79084574 79084574 C T intronic BAIAP2 NA NA NA intronic ENSG00000175866 NA NA NA NA NA 17q25.3 NA NA NA NA rs56084168 0.18 0.18 0.149 0.164936 0.1441 0.1399 0.3559 0.0983 0.1667 0.15 0.16 0.31 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121362 NA NA NA NA NA 0.174 NA 3.8559 1266 19 17306031 17306031 T C exonic MYO9B NA synonymous SNV MYO9B:NM_001130065:exon22:c.T3795C:p.P1265P,MYO9B:NM_004145:exon22:c.T3795C:p.P1265P exonic ENSG00000099331 NA synonymous SNV ENSG00000099331:ENST00000397274:exon21:c.T3795C:p.P1265P,ENSG00000099331:ENST00000595641:exon21:c.T3795C:p.P1265P,ENSG00000099331:ENST00000594824:exon22:c.T3795C:p.P1265P,ENSG00000099331:ENST00000595618:exon22:c.T3795C:p.P1265P NA NA 19p13.11 NA NA NA NA rs2279003 0.75 0.75 0.71 0.759185 0.5676 0.745 0.8012 0.9705 0.6554 0.57 0.78 0.78 0.97 0.6576 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032793 NA NA 0.58562 0.917871 NA 0.674 NA 3.8558466 1266 6 30229457 30229457 C T ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA NA NA NA rs2023478 0.34 0.34 0.29 0.397564 0.2465 0.5308 0.4496 0.3003 0.5102 0.22 0.48 0.4 0.3 0.3166 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.452643 NA NA 0.247877 0.280132 NA 0.384 NA 3.8556896 1266 14 106791131 106791131 A G intergenic LINC00226,LINC00221 dist=46165;dist=147324 NA NA exonic ENSG00000211953 NA synonymous SNV ENSG00000211953:ENST00000390613:exon2:c.T225C:p.S75S NA NA 14q32.33 NA NA NA NA rs10148460 0.29 0.29 0.243 NA NA NA NA NA NA 0.27 0.2 0.32 0.4 0.3276 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.640723 NA NA 0.317189 0.387835 NA 0.029 NA 3.855211 1267 2 48956417 48956417 C T intronic LHCGR,STON1-GTF2A1L NA NA NA intronic ENSG00000068781,ENSG00000138039,ENSG00000242441 NA NA NA NA NA 2p16.3 NA NA NA NA rs6759468 0.02 0.02 0.023 0.0179712 0.0517 0.001 0.0303 0.0061 0.0082 0.04 0.01 0.04 0.01 0.0364 0.057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.119974 NA NA 0.056977 0.015887 NA 0.022 NA 3.854923 1267 2 231157271 231157271 T C intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs7602027 0.19 0.19 0.194 0.18151 0.1451 0.2698 0.1628 0.2035 0.1115 0.15 0.31 0.15 0.16 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481531 NA NA NA NA NA 0.174 NA 3.8549 1267 3 111289988 111289988 C T intronic CD96 NA NA NA intronic ENSG00000153283 NA NA NA NA NA 3q13.13 NA NA NA NA rs2399393 0.16 0.16 0.16 0.155152 0.1451 0.3185 0.1744 0.003 0.1892 0.14 0.33 0.18 0.01 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038365 NA NA NA NA NA 0.087 NA 3.8549 1267 11 65049278 65049278 A G intronic POLA2 NA NA NA intronic ENSG00000014138 NA NA NA NA NA 11q13.1 NA NA NA NA rs611910 0.13 0.13 0.104 0.152955 0.1451 0.0694 0.134 0.1853 0.2168 0.14 0.08 0.15 0.15 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041667 NA NA NA NA NA 0.167 NA 3.8549 1267 12 9356603 9356603 T C intronic PZP NA NA NA intronic ENSG00000126838 NA NA NA NA NA 12p13.31 NA NA NA NA rs78952243 0.12 0.12 0.124 0.122005 0.1451 0.0972 0.0778 0.0787 0.2137 0.15 0.12 0.09 0.1 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483389 NA NA NA NA NA 0.109 NA 3.8549 1267 19 41387397 41387397 A G intronic CYP2A7 NA NA NA intronic ENSG00000198077,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs67808403 0.15 0.15 0.141 0.127196 0.1451 0.1954 0.0793 0.1188 0.0838 0.15 0.2 0.09 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05015 NA NA NA NA ID=COSN165821;OCCURENCE=1(breast) 0.152 NA 3.8549 1267 6 101037678 101037678 T C intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs240166 0.06 0.06 0.068 0.0686901 0.0497 NA 0.049 0.1838 0.0174 0.05 NA 0.05 0.14 0.0503 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.832854 NA NA 0.045243 0.140717 NA 0.101 NA 3.854757 1267 11 372784 372784 G A intronic B4GALNT4 NA NA NA intronic ENSG00000182272 NA NA NA NA NA 11p15.5 NA NA NA NA rs55794317 0.02 0.02 NA 0.01877 0.0358 NA 0.0274 0.0008 0.0389 0.04 NA 0.03 0.002 0.0643 0.045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.487392 1.487392 NA 0.045194 0.006843 NA 0.116 NA 3.854706 1267 11 85975337 85975337 A T intronic EED NA NA NA intronic ENSG00000074266 NA NA NA NA NA 11q14.2 NA NA NA NA rs78475799 0.03 0.03 0.03 0.0357428 0.0626 NA 0.0562 0.0257 0.044 0.05 NA 0.06 0.02 0.0387 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.986343 NA NA 0.04408 0.021571 NA 0.022 NA 3.85462 1267 1 200080464 200080464 C A intronic NR5A2 NA NA NA intronic ENSG00000116833 NA NA NA NA NA 1q32.1 NA NA NA NA rs202167972 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1455 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476129 NA NA NA NA NA NA NA 3.8545 1267 8 86386697 86386697 C T intronic CA2 NA NA NA intronic ENSG00000104267 NA NA NA NA NA 8q21.2 NA NA NA NA rs112597132 0.03 0.03 0.016 0.0189696 0.0596 NA 0.0317 0.0038 0.0082 0.05 NA 0.04 0.01 0.037 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374618 NA NA 0.048939 0.009797 NA 0.014 NA 3.854461 1267 2 48589683 48589683 G A intronic FOXN2 NA NA NA intronic ENSG00000170802 NA NA NA NA NA 2p16.3 NA NA NA NA rs34242257 0.07 0.07 0.064 0.0583067 0.1461 0.003 0.0951 0.0091 0.0654 0.14 0.0017 0.1 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287816 NA NA NA NA NA 0.203 NA 3.8539 1267 4 7639974 7639974 G C intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs73202520 0.08 0.08 0.079 0.0511182 0.1461 0.001 0.0807 0.0061 0.045 0.16 NA 0.1 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384912 NA NA NA NA NA 0.101 NA 3.8539 1267 4 55154891 55154891 T C intronic PDGFRA NA NA NA intronic ENSG00000134853,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs55732997 0.21 0.21 0.199 0.242412 0.1461 0.1726 0.2781 0.3472 0.2464 0.15 0.17 0.23 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111939 NA NA NA NA NA 0.275 NA 3.8539 1267 5 32072213 32072213 A C intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA NA NA NA rs3797064 0.18 0.18 0.17 0.181909 0.1461 0.2312 0.1614 0.2073 0.1483 0.15 0.25 0.13 0.17 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898896 NA NA NA NA NA 0.239 NA 3.8539 1267 6 117663499 117663499 A G intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs2243385 0.11 0.11 0.099 0.0998403 0.1461 0.1032 0.1095 0.0507 0.1084 0.15 0.11 0.1 0.06 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76149 NA NA NA NA NA 0.145 NA 3.8539 1267 17 73625430 73625430 G A exonic RECQL5 NA synonymous SNV RECQL5:NM_004259:exon16:c.C2073T:p.H691H exonic ENSG00000108469 NA synonymous SNV ENSG00000108469:ENST00000582548:exon1:c.C93T:p.H31H,ENSG00000108469:ENST00000580707:exon9:c.C540T:p.H180H,ENSG00000108469:ENST00000317905:exon16:c.C2073T:p.H691H,ENSG00000108469:ENST00000423245:exon16:c.C1992T:p.H664H NA NA 17q25.1 NA NA NA NA rs4788902 0.56 0.56 0.55 0.525958 0.6024 0.8085 0.647 0.1437 0.5869 0.6 0.81 0.61 0.15 0.6127 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05126 NA NA 0.59788 0.204783 NA 0.522 NA 3.8536866 1267 10 13320236 13320236 C T UTR3 PHYH NM_006214:c.*65G>A,NM_001037537:c.*65G>A NA NA UTR3 ENSG00000107537 ENST00000396913:c.*65G>A,ENST00000263038:c.*65G>A,ENST00000396920:c.*65G>A NA NA NA NA 10p13 NA NA NA NA rs11133 0.24 0.24 0.247 0.236422 0.2296 0.2024 0.1499 0.3563 0.1779 0.23 0.22 0.17 0.34 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830388 NA NA 0.250157 0.36922 NA 0.196 NA 3.8535764 1267 19 15882777 15882777 A C ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs3752146 0.85 0.85 0.809 0.852835 0.8131 0.9425 0.8559 0.82 0.8436 0.81 0.92 0.83 0.84 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043386 NA NA NA NA NA 0.783 NA 3.8535666 1267 13 103474382 103474382 G A intronic BIVM,BIVM-ERCC5 NA NA NA intronic ENSG00000134897,ENSG00000270181 NA NA NA NA NA 13q33.1 NA NA NA NA rs2274390 0.06 0.06 0.043 0.0441294 0.0567 0.0635 0.0231 0.0265 0.0501 0.06 0.07 0.03 0.04 0.0466 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164539 NA NA 0.043256 0.036087 NA 0.029 NA 3.853444 1267 14 51289874 51289874 G T intronic NIN NA NA NA ncRNA_intronic ENSG00000258843 NA NA NA NA NA 14q22.1 NA Name=EBF,YY1,YY1_(C-20) NA NA rs1547077 NA NA NA 0.828474 0.8569 0.8353 0.8098 0.8442 0.7843 NA NA NA NA 0.6233 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.132734 NA NA NA NA NA 0.913 NA 3.8531333 1267 2 232262419 232262419 G A intronic B3GNT7 NA NA NA intronic ENSG00000156966 NA NA NA NA NA 2q37.1 NA NA NA NA rs10445829 0.03 0.03 0.02 0.0207668 0.0586 NA 0.0418 0.003 0.0123 0.06 0.0017 0.04 NA 0.0393 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581241 NA NA 0.049163 0.011565 NA 0.058 NA 3.852937 1267 1 32890941 32890941 G T intergenic BSDC1,ZBTB8B dist=30879;dist=39717 NA NA ncRNA_intronic ENSG00000229259 NA NA NA NA NA 1p35.1 NA NA NA NA rs6682924 0.09 0.09 0.095 0.0814696 0.1471 NA 0.0807 0.1188 0.0481 0.14 NA 0.09 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707151 NA NA NA NA NA 0.13 NA 3.8529 1267 7 38259354 38259354 T G intronic STARD3NL NA NA NA intronic ENSG00000010270 NA NA NA NA NA 7p14.1 NA NA NA NA rs2392540 0.15 0.15 0.117 0.150559 0.1471 0.2192 0.1916 0.0772 0.1534 0.15 0.2 0.17 0.07 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867524 NA NA NA NA NA 0.181 NA 3.8529 1267 8 144463643 144463643 C T intronic RHPN1 NA NA NA intronic ENSG00000158106 NA NA NA NA NA 8q24.3 NA NA NA NA rs7015558 0.14 0.14 0.117 0.114018 0.1471 0.2252 0.1066 0.0408 0.0695 0.15 0.22 0.11 0.04 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557177 NA NA NA NA NA 0.08 NA 3.8529 1267 11 4854147 4854147 C T intergenic OR51F2,OR51S1 dist=10503;dist=15320 NA NA ncRNA_exonic ENSG00000197984 NA NA NA NA NA 11p15.4 NA NA NA NA rs17250199 0.08 0.08 0.067 0.0519169 0.1471 NA 0.0951 0.0234 0.0153 0.15 NA 0.13 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21061 NA NA NA NA NA 0.109 NA 3.8529 1267 11 33080407 33080407 G C intronic TCP11L1 NA NA NA intronic ENSG00000176148 NA NA NA NA NA 11p13 NA NA NA NA rs112498700 0.17 0.17 0.166 0.195687 0.1471 0.3393 0.0908 0.1044 0.2955 0.16 0.3 0.1 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852371 NA NA NA NA NA 0.145 NA 3.8529 1267 13 28141698 28141698 A G intronic LNX2 NA NA NA intronic ENSG00000139517 NA NA NA NA NA 13q12.2 NA NA NA NA rs35007323 0.07 0.07 0.057 0.0609026 0.1471 0.003 0.0677 0.0061 0.1012 0.15 0.0017 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674384 NA NA NA NA NA 0.029 NA 3.8529 1267 14 36190841 36190841 G A intronic RALGAPA1 NA NA NA intronic ENSG00000174373 NA NA NA NA NA 14q13.2 NA NA NA NA rs2296169 0.16 0.16 0.15 0.176917 0.1471 0.1329 0.1167 0.2859 0.1483 0.14 0.11 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406466 NA NA NA NA NA 0.152 NA 3.8529 1267 15 48795877 48795877 G A intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA NA NA rs16961033 0.27 0.27 0.276 0.272165 0.1471 0.3522 0.1931 0.438 0.1503 0.14 0.38 0.16 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536607 NA NA NA NA NA 0.232 NA 3.8529 1267 15 72904176 72904176 C T intergenic MIR630,GOLGA6B dist=24522;dist=42862 NA NA ncRNA_exonic ENSG00000243790 NA NA NA NA NA 15q24.1 NA NA NA NA rs6495012 0.34 0.34 0.336 0.353634 0.1471 0.4831 0.3314 0.5514 0.181 0.14 0.46 0.3 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828193 NA NA NA NA NA 0.348 NA 3.8529 1267 19 33106742 33106742 A G intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs395136 0.4 0.4 0.434 0.426717 0.1471 0.4841 0.2046 0.8124 0.2914 0.13 0.53 0.22 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74424 NA NA NA NA NA 0.435 NA 3.8529 1267 19 33106761 33106761 A G intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs414496 0.4 0.4 0.433 0.423922 0.1471 0.4841 0.2046 0.7995 0.2945 0.13 0.53 0.22 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253495 NA NA NA NA NA 0.435 NA 3.8529 1267 10 69902919 69902919 T C intronic MYPN NA NA NA intronic ENSG00000138347 NA NA NA NA NA 10q21.3 NA NA NA NA rs28429181 0.11 0.11 0.121 0.114217 0.0408 NA 0.0533 0.3722 0.002 0.04 NA 0.07 0.39 0.0586 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261306 NA NA 0.047708 0.320355 NA 0.109 NA 3.852892 1267 1 38082381 38082381 G C intronic RSPO1 NA NA NA intronic ENSG00000169218 NA NA NA NA NA 1p34.3 NA NA NA NA rs45577433 0.02 0.02 0.016 0.0205671 0.0408 0.0129 0.0173 0.0023 0.0348 0.04 0.01 0.02 0.0041 0.0457 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477281 NA NA 0.06077 0.012418 NA 0.014 NA 3.85273 1267 16 31422429 31422429 T C exonic ITGAD NA synonymous SNV ITGAD:NM_005353:exon13:c.T1389C:p.S463S exonic ENSG00000156886 NA synonymous SNV ENSG00000156886:ENST00000389202:exon13:c.T1389C:p.S463S NA NA 16p11.2 Score=883;Name=V$GR_Q6 NA NA NA rs12444660 0.91 0.91 0.914 0.913938 0.9394 0.8244 0.9568 0.9077 0.9581 0.94 0.83 0.96 0.93 0.9317 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.329689 NA NA 0.94314 0.925125 NA 0.942 NA 3.8524266 1267 5 289642 289642 G A intronic PDCD6 NA NA NA ncRNA_exonic ENSG00000250848 NA NA NA NA NA 5p15.33 NA NA NA NA rs6555127 0.31 0.31 0.251 0.312899 0.4811 0.2202 0.3242 0.0855 0.5348 0.49 0.24 0.31 0.1 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253442 NA NA NA NA NA 0.268 NA 3.8522333 1267 10 102048269 102048269 G A intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA NA NA NA rs2305386 0.07 0.07 0.06 0.0788738 0.0487 0.0605 0.0519 0.1195 0.093 0.05 0.07 0.06 0.1 0.0527 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279621 NA NA 0.046512 0.093509 NA 0.051 NA 3.852088 1267 1 33741615 33741615 T A intronic ZNF362 NA NA NA intronic ENSG00000160094 NA NA NA NA NA 1p35.1 NA NA NA NA rs7514338 0.18 0.18 0.19 0.228235 0.1481 0.0843 0.1455 0.4092 0.273 0.15 0.08 0.17 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601495 NA NA NA NA NA 0.174 NA 3.8519 1267 6 24475278 24475278 G A intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs77374467 0.1 0.1 0.089 0.0988419 0.1481 0.0992 0.0922 0.0189 0.1605 0.15 0.09 0.09 0.02 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329838 NA NA NA NA NA 0.08 NA 3.8519 1267 8 98973560 98973560 C T intronic MATN2 NA NA NA intronic ENSG00000132561 NA NA NA NA NA 8q22.1 NA NA NA NA rs62523561 0.24 0.24 0.231 0.278954 0.1481 0.369 0.134 0.3048 0.3885 0.13 0.36 0.12 0.33 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221498 NA NA NA NA NA 0.254 NA 3.8519 1267 9 97216163 97216163 G T intronic HIATL1 NA NA NA intronic ENSG00000148110 NA NA NA NA NA 9q22.32 NA NA NA NA rs7037298 0.16 0.16 0.155 0.172923 0.1481 0.0506 0.134 0.2625 0.2311 0.14 0.07 0.16 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425809 NA NA NA NA NA 0.123 NA 3.8519 1267 16 4812816 4812816 G A intronic ZNF500 NA NA NA intronic ENSG00000103199 NA NA NA NA NA 16p13.3 NA NA NA NA rs2290561 0.14 0.14 0.113 0.144169 0.1481 0.2609 0.1556 0.0053 0.1994 0.14 0.24 0.16 0.0041 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137166 NA NA NA NA ID=COSN165098;OCCURENCE=1(breast) 0.159 NA 3.8519 1267 21 43259709 43259709 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs4920145 0.03 0.03 0.024 0.0413339 0.0388 0.005 0.036 0.034 0.0951 0.04 0.0035 0.04 0.04 0.0519 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973175 NA NA 0.057442 0.045393 NA 0.051 NA 3.851858 1267 19 46357811 46357811 C A intronic SYMPK NA NA NA UTR5 ENSG00000125755 ENST00000600237:c.-58G>T,ENST00000598059:c.-58G>T NA NA NA NA 19q13.32 NA NA NA NA rs2287718 0.14 0.14 0.134 0.144369 0.1571 0.0923 0.2334 0.1074 0.1718 0.16 0.09 0.2 0.12 0.1578 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112665 NA NA NA NA NA 0.072 NA 3.8517667 1267 11 620289 620289 C T intronic CDHR5 NA NA NA intronic ENSG00000099834 NA NA NA NA NA 11p15.5 NA NA NA NA rs117875177 0.02 0.02 0.016 0.0305511 0.0477 NA 0.0375 0.0008 0.0798 0.04 NA 0.05 0.002 0.0471 0.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621846 NA NA 0.053488 0.008398 NA 0.065 NA 3.851712 1267 12 71531889 71531889 T C intronic TSPAN8 NA NA NA intronic ENSG00000127324 NA NA NA NA NA 12q21.1 NA Name=CTCF,Rad21 NA NA rs1798093 0.35 0.35 0.339 0.333466 0.4016 0.1607 0.3372 0.4675 0.2577 0.41 0.15 0.37 0.47 0.3573 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.681763 1.681763 NA 0.389419 0.446891 NA 0.406 NA 3.851681 1267 17 62754586 62754586 T C ncRNA_intronic LOC146880 NA NA NA ncRNA_intronic ENSG00000215769,ENSG00000266820 NA NA NA NA NA 17q24.1 NA NA NA NA rs9908143 0.82 0.82 0.84 0.852835 0.8151 0.8423 0.6628 0.9342 0.9274 0.8 0.83 0.68 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591827 NA NA NA NA NA 0.877 NA 3.8515666 1267 5 137754695 137754695 T C exonic KDM3B NA synonymous SNV KDM3B:NM_016604:exon14:c.T3489C:p.G1163G exonic ENSG00000120733 NA synonymous SNV ENSG00000120733:ENST00000542866:exon7:c.T585C:p.G195G,ENSG00000120733:ENST00000394866:exon9:c.T2457C:p.G819G,ENSG00000120733:ENST00000314358:exon14:c.T3489C:p.G1163G NA NA 5q31.2 NA NA NA NA rs7726234 0.66 0.66 0.638 0.678115 0.5924 0.8532 0.6715 0.5681 0.7393 0.59 0.87 0.62 0.55 0.6389 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105402 NA NA 0.583837 0.584203 ID=COSM448654;OCCURENCE=1(breast) 0.623 NA 3.8515296 1267 4 57182901 57182901 A G intronic KIAA1211 NA NA NA intronic ENSG00000109265 NA NA NA NA NA 4q12 NA NA NA NA rs73159954 0.08 0.08 0.073 0.0854633 0.0398 0.1895 0.0389 0.0204 0.1462 0.05 0.21 0.05 0.03 0.0677 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07349 NA NA 0.041076 0.018384 NA 0.072 NA 3.851424 1267 8 72625328 72625328 T A intergenic EYA1,MSC dist=350861;dist=128449 NA NA intergenic ENSG00000254277,ENSG00000253287 dist=10307;dist=66512 NA NA NA NA 8q13.3 NA Name=ZNF263 NA NA rs56225142 0.45 0.45 0.398 0.425919 0.4821 0.5704 0.5764 0.1762 0.4499 0.49 0.56 0.58 0.18 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.307031 1.307031 NA NA NA NA 0.428 NA 3.8512334 1267 8 7155013 7155013 T C intergenic LOC349196,FAM66B dist=11133;dist=4120 NA NA ncRNA_exonic ENSG00000233295 NA NA NA NA NA 8p23.1 NA NA NA NA rs34002377 0.13 0.13 0.055 0.144569 0.0586 0.0595 0.0735 0.3593 0.0808 0.04 0.04 0.08 0.41 0.0595 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31091 NA 0.53 0.030679 0.188063 NA NA NA 3.851221 1267 19 22235526 22235526 T C intronic ZNF257 NA NA NA intronic ENSG00000197134 NA NA NA NA NA 19p12 NA Name=YY1 NA NA rs387315 0.56 0.56 0.528 0.498403 0.5746 0.5456 0.6311 0.4599 0.3292 0.59 0.58 0.58 0.48 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026613 NA NA 0.574481 0.479046 NA 0.514 NA 3.850919 1267 2 136590558 136590558 C T intronic LCT NA NA NA intronic ENSG00000115850 NA NA NA NA NA 2q21.3 NA NA NA NA rs3754690 0.2 0.2 0.207 0.236222 0.1491 0.1944 0.3127 0.2186 0.3384 0.14 0.2 0.26 0.23 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161854 NA NA NA NA NA 0.181 NA 3.8509 1267 7 5941411 5941411 G A intronic CCZ1 NA NA NA intronic ENSG00000122674 NA NA NA NA NA 7p22.1 NA NA NA NA rs112286506 0.1 0.1 0.074 0.100439 0.1491 0.0407 0.1614 0.0469 0.1411 0.13 0.03 0.19 0.07 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.733369 NA NA NA NA NA 0.13 NA 3.8509 1267 16 58292214 58292214 A G intronic CCDC113 NA NA NA intronic ENSG00000103021 NA NA NA NA NA 16q21 NA NA NA NA rs1125849 0.19 0.19 0.172 0.210463 0.1491 0.3393 0.2882 0.0333 0.3252 0.15 0.37 0.25 0.02 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.759354 1.759354 NA NA NA NA 0.167 NA 3.8509 1267 20 1650577 1650577 G A intergenic SIRPG,LOC100289473 dist=12152;dist=103434 NA NA ncRNA_exonic ENSG00000223750 NA NA NA NA NA 20p13 NA NA NA NA rs2273331 0.1 0.1 0.099 0.0854633 0.1491 0.0446 0.0793 0.1051 0.0399 0.14 0.05 0.09 0.1 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537733 NA NA NA NA NA 0.116 NA 3.8509 1267 20 1651660 1651660 T C intergenic SIRPG,LOC100289473 dist=13235;dist=102351 NA NA ncRNA_exonic ENSG00000223750 NA NA NA NA NA 20p13 NA NA NA NA rs732427 0.11 0.11 0.114 0.0970447 0.1491 0.0437 0.0836 0.1475 0.0399 0.14 0.05 0.1 0.14 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837064 NA NA NA NA NA 0.13 NA 3.8509 1267 10 27475275 27475275 T C intronic MASTL NA NA NA intronic ENSG00000120539 NA NA NA NA NA 10p12.1 NA NA NA NA rs73598041 0.04 0.04 0.034 0.0435304 0.0527 0.004 0.0317 0.0802 0.0337 0.05 0.0035 0.04 0.06 0.0467 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722328 NA NA 0.05 0.081026 NA 0.051 NA 3.8506 1267 6 28483411 28483411 C T intronic GPX6 NA NA NA intronic ENSG00000198704 NA NA NA NA NA 6p22.1 NA NA NA NA rs6920813 0.1 0.1 0.08 0.0888578 0.0378 0.248 0.1167 0.0015 0.0757 0.04 0.26 0.1 0.0041 0.0711 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173121 NA NA 0.040638 0.011324 NA 0.094 NA 3.850462 1267 2 109123996 109123996 T G intronic GCC2 NA NA NA ncRNA_exonic ENSG00000214184 NA NA NA NA NA 2q12.3 NA NA NA NA rs2577596 0.16 0.16 0.225 0.183107 0.174 0.0685 0.0922 0.2973 0.2209 0.18 0.06 0.1 0.31 0.1662 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142665 NA NA 0.142708 0.245005 NA 0.319 NA 3.8504253 1267 1 8415682 8415682 C T intronic RERE NA NA NA intronic ENSG00000142599 NA NA NA NA NA 1p36.23 NA NA NA NA rs41278972 0.03 0.03 0.027 0.0263578 0.0586 0.0228 0.0461 0.0023 0.0153 0.06 0.01 0.05 0.01 0.0478 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485111 NA NA 0.04354 0.009588 NA 0.014 NA 3.85006 1267 5 126206303 126206303 C T UTR3 MARCH3 NM_178450:c.*22G>A NA NA UTR3 ENSG00000173926 ENST00000308660:c.*22G>A NA NA NA NA 5q23.2 NA NA NA NA rs34150806 0.14 0.14 NA 0.130192 0.159 0.1845 0.2983 0.0076 0.091 0.16 0.16 0.25 0.01 0.1707 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.121686 NA NA 0.153605 0.036768 ID=COSN167546;OCCURENCE=2(large_intestine) 0.152 NA 3.8500284 1267 1 183212171 183212171 C A intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA NA NA 1q25.3 NA NA NA NA rs3768594 0.3 0.3 0.3 0.310503 0.1501 0.3671 0.3141 0.3737 0.3292 0.16 0.39 0.29 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600768 NA NA NA NA NA 0.225 NA 3.8499 1267 3 195377651 195377651 T C intergenic APOD,SDHAP2 dist=66575;dist=7259 NA NA ncRNA_exonic ENSG00000271662 NA NA NA NA NA 3q29 NA NA NA NA rs139047772 0.11 0.11 0.043 0.0577077 0.1501 0.001 0.0749 0.0212 0.0583 0.17 0.03 0.14 0.09 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708209 NA 1 NA NA NA NA NA 3.8499 1267 4 166935465 166935465 A C intronic TLL1 NA NA NA intronic ENSG00000038295 NA NA NA NA NA 4q32.3 NA NA NA NA rs56706178 0.11 0.11 NA 0.108027 0.1501 0.0714 0.1081 0.1021 0.1104 0.15 0.08 0.09 0.11 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299867 NA NA NA NA NA 0.087 NA 3.8499 1267 9 35724448 35724448 G A intronic TLN1 NA NA NA intronic ENSG00000137076 NA NA NA NA NA 9p13.3 NA NA NA NA rs41277065 0.06 0.06 0.059 0.0455272 0.1501 0.001 0.072 0.0091 0.0143 0.14 0.0017 0.08 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.759751 NA NA NA NA NA 0.029 NA 3.8499 1267 9 95991895 95991895 T C intronic WNK2 NA NA NA intronic ENSG00000165238 NA NA NA NA NA 9q22.31 NA NA NA NA rs7874101 0.15 0.15 0.151 0.197284 0.1501 0.1319 0.1254 0.2405 0.3057 0.15 0.1 0.12 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681653 NA NA NA NA NA 0.159 NA 3.8499 1267 19 13386860 13386860 C T intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA NA NA NA rs7257254 0.29 0.29 0.291 0.314497 0.1501 0.621 0.2608 0.1672 0.4049 0.15 0.61 0.24 0.17 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.575756 1.575756 NA NA NA NA 0.275 NA 3.8499 1267 20 36760559 36760559 G A intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA NA NA NA rs2076383 0.24 0.24 0.238 0.23722 0.1501 0.3274 0.1354 0.2829 0.2444 0.16 0.38 0.13 0.28 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897083 NA NA NA NA NA 0.239 NA 3.8499 1267 20 36760568 36760568 A G intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA NA NA NA rs2076384 0.24 0.24 0.23 0.23742 0.1501 0.3284 0.1354 0.2829 0.2444 0.16 0.38 0.13 0.28 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58853 NA NA NA NA NA 0.239 NA 3.8499 1267 20 36760598 36760598 A G intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA NA NA NA rs2076385 0.24 0.24 0.23 0.23722 0.1501 0.3274 0.1354 0.2829 0.2444 0.16 0.38 0.13 0.28 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070989 NA NA NA NA NA 0.239 NA 3.8499 1267 5 150646780 150646780 A C intronic GM2A NA NA NA UTR3 ENSG00000196743 ENST00000523004:c.*294A>C NA NA NA NA 5q33.1 NA NA NA NA rs2075783 0.24 0.24 0.205 0.247404 0.3171 0.2698 0.4496 0.0212 0.3149 0.3 0.26 0.38 0.03 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654943 NA NA NA NA NA 0.246 NA 3.8495667 1267 1 160924426 160924426 G A intronic ITLN2 NA NA NA intronic ENSG00000158764 NA NA NA NA NA 1q23.3 NA NA NA NA rs12401642 0.11 0.11 0.102 0.123802 0.0755 0.1845 0.1715 0.0461 0.182 0.07 0.22 0.13 0.04 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138062 NA NA 0.07511 0.055636 NA 0.109 NA 3.84939 1267 10 101606683 101606683 G A intronic ABCC2 NA NA NA intronic ENSG00000023839 NA NA NA NA NA 10q24.2 NA NA NA NA rs3740064 0.08 0.08 0.093 0.0796725 0.0487 0.0228 0.0692 0.202 0.0123 0.04 0.03 0.07 0.21 0.0545 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150239 NA NA 0.047442 0.170676 NA 0.08 NA 3.849358 1267 18 47363009 47363009 C T intronic MYO5B NA NA NA ncRNA_intronic ENSG00000267322 NA NA NA NA NA 18q21.1 NA NA NA NA rs621101 0.35 0.35 0.365 0.344848 0.4841 0.1181 0.3415 0.438 0.3119 0.46 0.12 0.39 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03869 NA NA NA NA NA 0.384 NA 3.8492333 1267 1 55518198 55518198 C A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs7552350 NA NA 0.235 0.138578 0.1511 0.0446 0.1369 0.2269 0.1043 NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368964 NA NA NA NA NA 0.072 NA 3.8489 1267 7 151322503 151322503 A C intronic PRKAG2 NA NA NA intronic ENSG00000106617 NA NA NA NA NA 7q36.1 NA NA NA NA rs73478069 0.12 0.12 0.102 0.121206 0.1511 0.0198 0.1196 0.2141 0.0706 0.14 0.02 0.13 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515204 NA NA NA NA NA 0.181 NA 3.8489 1267 17 42335685 42335685 G A intronic SLC4A1 NA NA NA intronic ENSG00000004939,ENSG00000268413 NA NA NA NA NA 17q21.31 NA NA NA NA rs13306775 0.16 0.16 0.164 0.159944 0.1511 0.0605 0.1153 0.3147 0.0941 0.14 0.08 0.13 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86808 NA NA NA NA NA 0.217 NA 3.8489 1267 21 42860494 42860494 C G intronic TMPRSS2 NA NA NA intronic ENSG00000184012 NA NA NA NA NA 21q22.3 NA NA NA NA rs3819138 0.09 0.09 0.087 0.0684904 0.1511 0.0486 0.0879 0.0091 0.0706 0.16 0.06 0.09 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094111 NA NA NA NA NA 0.051 NA 3.8489 1267 22 16287155 16287155 G T intronic POTEH NA NA NA intronic ENSG00000198062 NA NA NA NA NA 22q11.1 NA NA NA NA rs73877828 0.15 0.15 0.153 0.170927 0.1511 0.256 0.0735 0.1551 0.1943 0.14 0.22 0.09 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.000002 NA NA NA NA NA 0.036 NA 3.8489 1267 10 102009980 102009980 T C intronic CWF19L1 NA NA NA intronic ENSG00000095485 NA NA NA NA NA 10q24.31 NA NA NA NA rs7072367 0.08 0.08 0.073 0.0934505 0.0487 0.0615 0.0548 0.1725 0.093 0.05 0.07 0.06 0.13 0.0566 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151295 NA NA 0.04593 0.133 NA 0.058 NA 3.84877 1267 10 102003579 102003579 C G intronic CWF19L1 NA NA NA intronic ENSG00000095485 NA NA NA NA NA 10q24.31 NA NA NA NA rs35616070 0.08 0.08 0.079 0.0934505 0.0487 0.0615 0.0548 0.1725 0.093 0.05 0.07 0.06 0.13 0.0565 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.010529 2.010529 NA 0.046395 0.134589 NA 0.058 NA 3.848405 1267 19 6896380 6896380 G A intronic EMR1 NA NA NA intronic ENSG00000174837 NA NA NA NA NA 19p13.3 NA NA NA NA rs10406373 0.07 0.07 0.078 0.0810703 0.0408 0.003 0.0346 0.2239 0.0429 0.04 NA 0.04 0.25 0.0577 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670798 NA NA 0.053372 0.196323 NA 0.094 NA 3.848128 1267 1 37307281 37307281 T G intronic GRIK3 NA NA NA intronic ENSG00000163873 NA NA NA NA NA 1p34.3 NA NA NA NA rs553882 0.14 0.14 0.127 0.154353 0.1521 0.0774 0.1023 0.2398 0.1575 0.14 0.06 0.12 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350862 NA NA NA NA NA 0.196 NA 3.8479 1267 3 42019392 42019392 C T intergenic ULK4,TRAK1 dist=15732;dist=113354 NA NA ncRNA_exonic ENSG00000235339 NA NA NA NA NA 3p22.1 NA NA NA NA rs17218936 0.08 0.08 0.075 0.076278 0.1521 0.002 0.0821 0.0545 0.1002 0.16 0.0035 0.09 0.06 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.79342 NA NA NA NA NA 0.123 NA 3.8479 1267 15 33893567 33893567 C G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs12906396 0.14 0.14 0.125 0.135583 0.1521 0.124 0.1124 0.1415 0.1391 0.15 0.12 0.13 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735013 NA NA NA NA NA 0.123 NA 3.8479 1267 19 43421728 43421728 A G intronic PSG6 NA NA NA intronic ENSG00000170848 NA NA NA NA NA 19q13.31 NA NA NA NA rs57975345 0.12 0.12 0.089 0.110623 0.1521 0.003 0.2233 0.0893 0.1278 0.16 0.0017 0.22 0.12 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769901 NA NA NA NA NA 0.174 NA 3.8479 1267 17 45367669 45367669 G A intronic ITGB3 NA NA NA intronic ENSG00000259207,ENSG00000259753 NA NA NA NA NA 17q21.32 NA NA NA NA rs16941829 0.03 0.03 0.014 0.0221645 0.0507 NA 0.0634 0.0045 0.0102 0.04 NA 0.08 0.0041 0.0433 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368054 NA NA 0.058256 0.014299 NA 0.007 NA 3.847744 1267 11 9305177 9305177 C T intronic TMEM41B NA NA NA intronic ENSG00000166471 NA NA NA NA NA 11p15.4 NA NA NA NA rs72861351 0.02 0.02 0.024 0.014976 0.0527 NA 0.0101 0.0015 0.0133 0.06 NA 0.01 0.002 0.0467 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.672207 1.672207 NA 0.052969 0.007497 NA 0.029 NA 3.847631 1267 14 70714172 70714172 T C ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs4899341 NA NA 0.584 0.749201 0.8191 0.7212 0.8573 0.5461 0.9039 NA NA NA NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083543 NA NA NA NA NA 0.543 NA 3.8475666 1267 1 1684169 1684169 C G UTR3 NADK NM_001198995:c.*174G>C,NM_023018:c.*174G>C,NM_001198993:c.*174G>C,NM_001198994:c.*174G>C NA NA UTR3 ENSG00000008130 ENST00000378625:c.*174G>C,ENST00000341991:c.*174G>C,ENST00000341426:c.*174G>C,ENST00000344463:c.*174G>C,ENST00000342348:c.*174G>C NA NA NA NA 1p36.33 NA NA NA NA rs7796 0.36 0.36 0.284 0.326278 0.4861 0.3452 0.5591 0.0469 0.3548 0.5 0.33 0.52 0.06 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118768 NA NA NA NA NA 0.254 NA 3.8472334 1267 17 3921118 3921118 C T intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs118017571 0.03 0.03 0.022 0.0247604 0.0577 NA 0.036 0.0083 0.0307 0.07 NA 0.05 0.01 0.0431 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.372114 NA NA 0.052093 0.014072 NA 0.087 NA 3.847107 1267 6 13949295 13949295 A G intronic RNF182 NA NA NA intronic ENSG00000180537 NA NA NA NA NA 6p23 NA NA NA NA rs28588958 0.22 0.22 0.216 0.24401 0.1531 0.4911 0.1268 0.1778 0.2556 0.16 0.41 0.14 0.16 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69058 NA NA NA NA NA 0.145 NA 3.8469 1267 7 101559302 101559302 C G intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs10231075 0.19 0.19 0.199 0.22484 0.1531 0.0159 0.1556 0.4728 0.228 0.16 0.02 0.19 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509917 NA NA NA NA NA 0.275 NA 3.8469 1267 12 120614093 120614093 C T intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs2269945 0.3 0.3 0.28 0.28095 0.1531 0.5655 0.1297 0.2829 0.2239 0.16 0.57 0.15 0.3 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420759 NA NA NA NA NA 0.145 NA 3.8469 1267 13 77562630 77562630 C G intergenic IRG1,CLN5 dist=29854;dist=3429 NA NA downstream ENSG00000228002 NA NA NA Score=586;Name=lod=321 NA 13q22.3 NA NA NA NA rs649291 0.42 0.42 0.396 0.371805 0.6531 0.2272 0.4352 0.2549 0.3446 0.65 0.24 0.51 0.21 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099474 NA NA NA NA NA 0.341 NA 3.8469 1267 17 30375698 30375698 G C intronic LRRC37B NA NA NA intronic ENSG00000185158 NA NA NA NA NA 17q11.2 NA NA NA NA rs2957920 0.18 0.18 0.16 0.19349 0.1531 0.0397 0.1167 0.4047 0.1626 0.16 0.04 0.12 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606847 NA NA NA NA NA 0.29 NA 3.8469 1267 19 53077258 53077258 G A intronic ZNF701 NA NA NA intronic ENSG00000167562 NA NA NA NA NA 19q13.41 NA NA NA NA rs75491966 0.09 0.09 0.069 0.08127 0.1531 0.002 0.1441 0.0454 0.093 0.15 NA 0.13 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192089 NA NA NA NA NA 0.145 NA 3.8469 1267 19 53077515 53077515 C G intronic ZNF701 NA NA NA intronic ENSG00000167562 NA NA NA NA NA 19q13.41 NA NA NA NA rs58919804 0.09 0.09 0.07 0.08127 0.1531 0.002 0.1441 0.0454 0.093 0.15 NA 0.13 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982609 NA NA NA NA NA 0.145 NA 3.8469 1267 20 36718059 36718059 G A intronic RPRD1B NA NA NA intronic ENSG00000101413 NA NA NA NA NA 20q11.23 NA NA NA NA rs3746466 0.21 0.21 0.22 0.255391 0.1531 0.2103 0.1311 0.4032 0.2955 0.16 0.17 0.15 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957956 NA NA NA NA NA 0.152 NA 3.8469 1267 11 128842251 128842251 G T intronic ARHGAP32 NA NA NA UTR3 ENSG00000134909 ENST00000524655:c.*1736C>A NA NA NA NA 11q24.3 NA NA NA NA rs76301868 0.3 0.3 0.271 0.247604 0.3201 0.3006 0.3689 0.1732 0.1329 0.3 0.31 0.37 0.22 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431581 NA NA NA NA NA 0.167 NA 3.8465667 1267 6 44121947 44121947 C T intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs2277127 0.14 0.14 0.148 0.132987 0.0457 0.2183 0.1614 0.1611 0.0767 0.05 0.26 0.14 0.16 0.0805 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576432 NA NA 0.027558 0.130277 NA 0.109 NA 3.846242 1267 19 1074315 1074315 C T intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA NA NA NA rs12974537 0.04 0.04 NA 0.0311502 0.0895 0.006 0.0605 0.0068 0.0092 0.08 0.0035 0.08 0.01 0.0643 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148223 NA NA NA NA NA 0.08 NA 3.8462 1267 17 4645612 4645612 C T intronic ZMYND15 NA NA NA intronic ENSG00000141497 NA NA NA NA NA 17p13.2 NA NA NA NA rs4790697 0.03 0.03 0.023 0.0297524 0.0507 NA 0.0994 0.0083 0.0184 0.06 NA 0.07 0.01 0.0494 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210785 NA NA 0.053721 0.014299 NA 0.08 NA 3.846179 1267 14 56145018 56145018 A T intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs45458197 0.04 0.04 0.02 0.0397364 0.0606 0.0129 0.0692 0.0023 0.0757 0.06 0.01 0.07 0.0041 NA 0.093 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070007 NA NA 0.093348 0.020089 NA 0.007 NA 3.846052 1267 3 179533826 179533826 T C intronic PEX5L NA NA NA intronic ENSG00000114757 NA NA NA NA NA 3q26.33 NA NA NA NA rs17690759 0.02 0.02 0.023 0.0185703 0.0577 NA 0.0187 0.003 0.0184 0.06 NA 0.02 0.0041 0.0394 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001215 NA NA 0.05686 0.011575 NA 0.065 NA 3.84604 1267 3 186384015 186384015 C T intronic HRG NA NA NA intronic ENSG00000113905 NA NA NA NA NA 3q27.3 NA NA NA NA rs11707899 0.09 0.09 0.092 0.0992412 0.0497 0.0883 0.0735 0.1997 0.044 0.04 0.07 0.09 0.2 0.0564 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83844 NA NA 0.047907 0.150931 NA 0.101 NA 3.845993 1267 7 1538021 1538021 G A intronic INTS1 NA NA NA intronic ENSG00000164880 NA NA NA NA NA 7p22.3 NA NA NA NA rs11761394 0.03 0.03 0.026 0.0167732 0.0557 NA 0.0288 0.0015 0.0061 0.06 NA 0.04 0.0041 0.0434 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39111 NA NA 0.054941 0.0115 NA 0.022 NA 3.845959 1267 1 18661583 18661583 T C intronic IGSF21 NA NA NA intronic ENSG00000117154 NA NA NA NA NA 1p36.13 NA NA NA NA rs536540 0.33 0.33 0.348 0.38099 0.1541 0.3502 0.2695 0.7436 0.2352 0.14 0.32 0.23 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374639 NA NA NA NA NA 0.478 NA 3.8459 1267 1 226576270 226576270 A G intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA NA NA NA rs2255403 0.29 0.29 0.256 0.252196 0.1541 0.4841 0.3559 0.1415 0.1902 0.17 0.52 0.33 0.16 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269953 NA NA NA NA NA 0.225 NA 3.8459 1267 6 41059169 41059169 G A intronic NFYA NA NA NA intronic ENSG00000001167,ENSG00000124596 NA NA NA NA NA 6p21.1 NA NA NA NA rs10080924 0.18 0.18 0.2 0.211462 0.1541 0.0099 0.1297 0.5242 0.1135 0.15 0.01 0.12 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391547 NA NA NA NA NA 0.275 NA 3.8459 1267 6 69728452 69728452 C T intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA NA NA 6q12 NA NA NA NA rs10485430 0.12 0.12 0.106 0.101837 0.1541 0.0565 0.1009 0.1195 0.0716 0.15 0.07 0.1 0.14 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994152 NA NA NA NA NA 0.094 NA 3.8459 1267 7 154897972 154897972 T C intergenic HTR5A,INSIG1 dist=18870;dist=191514 NA NA upstream ENSG00000228806 NA NA NA Score=664;Name=lod=666 NA 7q36.2 NA NA NA NA rs1618158 0.7 0.7 0.706 0.701478 0.6541 0.747 0.7147 0.6967 0.7004 0.64 0.78 0.68 0.71 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223589 NA NA NA NA NA 0.667 NA 3.8459 1267 16 57756564 57756564 G A intronic CCDC135 NA NA NA intronic ENSG00000159625 NA NA NA NA NA 16q21 NA NA NA NA rs3826094 0.23 0.23 0.198 0.223043 0.1541 0.2837 0.2594 0.2602 0.1554 0.16 0.26 0.23 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.048912 NA NA NA NA NA 0.181 NA 3.8459 1267 3 50368955 50368955 C A intronic RASSF1 NA NA NA intronic ENSG00000068028 NA NA NA NA NA 3p21.31 NA NA NA NA rs73082910 0.03 0.03 0.014 0.0213658 0.0547 NA 0.0346 0.0038 0.0235 0.06 NA 0.04 0.01 0.0455 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.782748 NA NA 0.054186 0.010672 NA 0.014 NA 3.845614 1267 6 44108848 44108848 C T intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs12528844 0.14 0.14 0.128 0.120807 0.0477 0.2242 0.1527 0.1157 0.0736 0.05 0.26 0.13 0.13 0.0786 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.683883 1.683883 NA 0.028256 0.093055 NA 0.094 NA 3.845444 1267 22 46792689 46792689 C A intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA NA NA rs74788410 0.04 0.04 0.033 0.0341454 0.0547 NA 0.0303 0.056 0.0215 0.05 NA 0.03 0.1 0.0457 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290373 NA NA 0.054328 0.040663 NA 0.029 NA 3.845272 1268 6 44107189 44107189 C T intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs35174285 0.14 0.14 0.126 0.122204 0.0477 0.2232 0.1527 0.1172 0.0798 0.05 0.26 0.13 0.13 0.0791 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396118 NA NA 0.028256 0.093736 NA 0.101 NA 3.844944 1268 5 38881603 38881603 G T intronic OSMR NA NA NA intronic ENSG00000145623 NA NA NA NA NA 5p13.1 NA NA NA NA rs2278324 0.1 0.1 0.087 0.090655 0.1551 0.0298 0.0865 0.0643 0.1258 0.17 0.03 0.1 0.06 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183656 NA NA NA NA NA 0.072 NA 3.8449 1268 7 154898078 154898078 T C intergenic HTR5A,INSIG1 dist=18976;dist=191408 NA NA upstream ENSG00000228806 NA NA NA Score=664;Name=lod=666 NA 7q36.2 NA NA NA NA rs1619015 0.71 0.71 0.71 0.705471 0.6551 0.748 0.7147 0.711 0.6994 0.64 0.78 0.68 0.74 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199009 NA NA NA NA NA 0.667 NA 3.8449 1268 9 95887108 95887108 C T intronic NINJ1 NA NA NA intronic ENSG00000131669 NA NA NA NA NA 9q22.31 NA NA NA NA rs13299270 0.12 0.12 0.129 0.102436 0.1551 0.005 0.0634 0.2057 0.0368 0.16 0.0017 0.08 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522841 NA NA NA NA NA 0.13 NA 3.8449 1268 11 67742354 67742354 C A intergenic FAM86C2P,UNC93B1 dist=169547;dist=16221 NA NA ncRNA_exonic ENSG00000255554 NA NA NA NA NA 11q13.2 NA NA NA NA rs11228105 0.13 0.13 0.109 0.137181 0.1551 0.1528 0.1254 0.0908 0.1738 0.15 0.16 0.13 0.07 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703488 NA NA NA NA NA 0.043 NA 3.8449 1268 11 67742518 67742518 A G intergenic FAM86C2P,UNC93B1 dist=169711;dist=16057 NA NA ncRNA_exonic ENSG00000255554 NA NA NA NA NA 11q13.2 NA NA NA NA rs4014567 0.11 0.11 0.092 0.136781 0.1551 0.1518 0.1268 0.0908 0.1718 0.12 0.15 0.11 0.06 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477287 NA NA NA NA NA 0.022 NA 3.8449 1268 12 109541171 109541171 T C intronic UNG NA NA NA intronic ENSG00000076248 NA NA NA NA NA 12q24.11 NA NA NA NA rs2569987 0.08 0.08 0.074 0.0595048 0.1551 NA 0.098 0.028 0.0378 0.15 NA 0.11 0.03 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406476 NA NA NA NA NA 0.101 NA 3.8449 1268 12 120602078 120602078 T G intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs2286049 0.34 0.34 0.341 0.335663 0.1551 0.5665 0.1441 0.4773 0.228 0.16 0.58 0.17 0.49 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63616 NA NA NA NA NA 0.225 NA 3.8449 1268 18 14542569 14542569 G A intronic POTEC NA NA NA intronic ENSG00000183206 NA NA NA NA NA 18p11.21 NA NA NA NA rs9807187 0.29 0.29 0.173 0.303514 0.1551 0.5099 0.2608 0.2821 0.3027 0.16 0.46 0.27 0.28 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655643 NA NA NA NA NA NA NA 3.8449 1268 6 26428842 26428842 A G ncRNA_intronic BTN2A3P NA NA NA ncRNA_intronic ENSG00000124549 NA NA NA NA NA 6p22.2 NA NA NA NA rs1741740 0.82 0.82 0.828 0.832668 0.8221 0.75 0.7608 0.9788 0.7822 0.82 0.72 0.8 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210216 NA NA NA NA NA 0.906 NA 3.8445666 1268 16 68863752 68863752 G A intronic CDH1 NA NA NA intronic ENSG00000039068 NA NA NA NA NA 16q22.1 NA NA NA NA rs33965115 0.02 0.02 0.015 0.019369 0.0467 NA 0.0245 0.0053 0.0266 0.04 NA 0.04 0.01 0.0492 0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55565 NA NA 0.05955 0.013994 NA 0.065 NA 3.84455 1268 11 35395940 35395940 A G intronic SLC1A2 NA NA NA ncRNA_exonic ENSG00000215380 NA NA NA NA NA 11p13 NA NA NA NA rs1923300 0.54 0.54 0.502 0.548323 0.4891 0.7401 0.611 0.3275 0.6656 0.5 0.74 0.6 0.35 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958619 NA NA NA NA NA 0.493 NA 3.8442333 1268 20 9401940 9401940 A G intronic PLCB4 NA NA NA intronic ENSG00000101333 NA NA NA NA NA 20p12.2 NA NA NA NA rs6056609 0.14 0.14 0.113 0.14377 0.0447 0.2381 0.1599 0.1906 0.0736 0.05 0.22 0.15 0.17 0.0722 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213896 NA NA 0.039186 0.155243 NA 0.058 NA 3.843914 1268 1 40209408 40209408 A G intronic PPIE NA NA NA intronic ENSG00000084072 NA NA NA NA NA 1p34.2 NA NA NA NA rs491164 0.09 0.09 0.08 0.0836661 0.1561 NA 0.1455 0.059 0.0849 0.15 NA 0.15 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.122491 3.122491 NA NA NA NA 0.159 NA 3.8439 1268 5 9202419 9202419 T C intronic SEMA5A NA NA NA intronic ENSG00000112902 NA NA NA NA NA 5p15.31 NA NA NA NA rs1805974 0.15 0.15 0.134 0.164137 0.1561 0.1468 0.3285 0.0643 0.2086 0.16 0.13 0.28 0.05 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68698 NA NA NA NA NA 0.159 NA 3.8439 1268 13 42144480 42144480 T C intronic VWA8 NA NA NA intronic ENSG00000102763 NA NA NA NA NA 13q14.11 NA NA NA NA rs9566791 0.28 0.28 0.276 0.304912 0.1561 0.378 0.3112 0.3676 0.2935 0.16 0.35 0.26 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097268 NA NA NA NA NA 0.21 NA 3.8439 1268 19 8137192 8137192 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs17160134 0.14 0.14 0.134 0.1252 0.1561 0.1151 0.1066 0.1165 0.1288 0.16 0.12 0.12 0.12 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642142 NA NA NA NA NA 0.196 NA 3.8439 1268 1 103364618 103364618 A T intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs1676498 0.1 0.1 0.1 0.0904553 0.0835 0.0655 0.0533 0.1694 0.0429 0.08 0.07 0.05 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072958 NA NA 0.072642 0.133671 NA 0.072 NA 3.843858 1268 16 85704584 85704584 A G intronic GSE1 NA NA NA intronic ENSG00000131149 NA NA NA NA NA 16q24.1 Score=784;Name=V$EVI1_01 NA NA NA rs2303202 0.38 0.38 0.352 0.379992 0.3688 0.5069 0.3256 0.2209 0.5143 0.39 0.52 0.33 0.23 0.4019 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61075 NA NA 0.385581 0.275705 NA 0.261 NA 3.843719 1268 9 136577848 136577848 C T intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs45581441 0.04 0.04 0.041 0.0321486 0.0527 0.001 0.0648 0.0408 0.0082 0.06 0.0017 0.07 0.04 0.0455 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678647 NA NA 0.058269 0.036995 NA 0.043 NA 3.843531 1268 12 12633287 12633287 A G intronic DUSP16 NA NA NA intronic ENSG00000111266 NA NA NA NA NA 12p13.2 NA NA NA NA rs10845555 0.14 0.14 0.132 0.188898 0.0348 0.4097 0.1037 0.1112 0.2853 0.04 0.36 0.07 0.09 0.1009 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.506992 1.506992 NA 0.020814 0.091012 NA 0.13 NA 3.843486 1268 6 44120293 44120293 C T intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs79582609 0.14 0.14 0.135 0.127396 0.0477 0.2242 0.1614 0.1346 0.0757 0.05 0.26 0.14 0.13 0.0805 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.541483 1.541483 NA 0.028372 0.111666 NA 0.094 NA 3.843428 1268 1 65860687 65860687 A C exonic DNAJC6 NA synonymous SNV DNAJC6:NM_001256864:exon13:c.A2010C:p.P670P,DNAJC6:NM_014787:exon13:c.A1839C:p.P613P,DNAJC6:NM_001256865:exon14:c.A1800C:p.P600P exonic ENSG00000116675 NA synonymous SNV ENSG00000116675:ENST00000371069:exon13:c.A2010C:p.P670P,ENSG00000116675:ENST00000395325:exon13:c.A1839C:p.P613P,ENSG00000116675:ENST00000263441:exon14:c.A1800C:p.P600P NA NA 1p31.3 NA NA NA NA rs4582839 0.73 0.73 0.762 0.757788 0.5924 0.7927 0.6282 0.9811 0.682 0.59 0.78 0.64 0.98 0.6468 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961999 NA NA 0.58407 0.912846 NA 0.688 NA 3.8433966 1268 2 234091159 234091159 G A intronic INPP5D NA NA NA intronic ENSG00000168918 NA NA NA NA NA 2q37.1 NA NA NA NA rs11693000 0.03 0.03 0.031 0.0271565 0.0795 0.002 0.0447 0.0061 0.0153 0.06 NA 0.05 0.01 0.0488 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605139 NA NA 0.028452 0.005087 NA NA NA 3.843248 1268 9 35707677 35707677 G A intronic TLN1 NA NA NA intronic ENSG00000137076 NA NA NA NA NA 9p13.3 NA NA NA NA rs56221655 0.03 0.03 0.018 0.0183706 0.0586 NA 0.0274 0.0061 0.0061 0.06 NA 0.02 0.0041 0.0394 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181987 NA NA 0.058837 0.011575 NA 0.007 NA 3.843163 1268 3 196022961 196022961 G T intronic TCTEX1D2 NA NA NA intronic ENSG00000213123 NA NA NA NA NA 3q29 NA NA NA NA rs75016149 0.05 0.05 0.048 0.0397364 0.0517 0.0972 0.0245 0.0076 0.0225 0.05 0.11 0.02 0.0041 0.0465 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.052725 NA NA 0.058721 0.020654 NA 0.014 NA 3.843079 1268 12 56827753 56827753 A G intronic TIMELESS NA NA NA intronic ENSG00000111602 NA NA NA NA NA 12q13.3 NA NA NA NA rs34697596 0.03 0.03 0.025 0.0211661 0.0527 NA 0.0375 0.0113 0.0123 0.04 NA 0.05 0.03 0.0431 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676445 NA NA 0.061279 0.017703 NA 0.014 NA 3.842921 1268 1 183184524 183184524 C T intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA NA NA 1q25.3 NA NA NA NA rs2274981 0.29 0.29 0.285 0.313898 0.1571 0.3333 0.3184 0.4024 0.3323 0.17 0.34 0.29 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076238 NA NA NA NA ID=COSN163364;OCCURENCE=1(breast) 0.232 NA 3.8429 1268 1 183191144 183191144 C T intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA NA NA 1q25.3 NA NA NA NA rs2296307 0.29 0.29 0.285 0.315695 0.1571 0.3363 0.3184 0.407 0.3323 0.17 0.34 0.29 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021759 NA NA NA NA ID=COSN163365;OCCURENCE=1(NS) 0.232 NA 3.8429 1268 3 39432785 39432785 C T intronic SLC25A38 NA NA NA intronic ENSG00000144659 NA NA NA NA NA 3p22.1 NA NA NA NA rs45503293 0.11 0.11 0.101 0.105431 0.1571 0.001 0.1182 0.1838 0.045 0.15 NA 0.13 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736654 NA NA NA NA NA 0.167 NA 3.8429 1268 9 126235071 126235071 A G intronic DENND1A NA NA NA intronic ENSG00000119522 NA NA NA NA NA 9q33.3 NA NA NA NA rs59460368 0.15 0.15 0.146 0.152157 0.1571 0.1567 0.1282 0.1604 0.1483 0.16 0.16 0.12 0.16 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578111 NA NA NA NA NA 0.21 NA 3.8429 1268 20 30147270 30147270 T G intronic HM13 NA NA NA intronic ENSG00000101294 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059981 0.27 0.27 0.298 0.282947 0.1571 NA 0.1844 0.8275 0.0378 0.16 NA 0.2 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565206 NA NA NA NA NA 0.333 NA 3.8429 1268 10 1070710 1070710 C G ncRNA_intronic IDI2-AS1 NA NA NA ncRNA_intronic ENSG00000232656 NA NA NA NA NA 10p15.3 NA NA NA NA rs12357207 0.22 0.22 0.228 0.232827 0.2604 0.2768 0.232 0.1014 0.3374 0.26 0.24 0.25 0.13 0.2786 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494133 NA NA 0.284884 0.137086 NA 0.232 NA 3.8427826 1268 11 102816356 102816356 G A intronic MMP13 NA NA NA intronic ENSG00000137745 NA NA NA NA NA 11q22.2 NA NA NA NA rs3758854 0.09 0.09 0.092 0.103235 0.0437 0.1161 0.0605 0.1641 0.0992 0.05 0.09 0.07 0.17 0.0617 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288519 NA NA 0.051885 0.146364 ID=COSN164035;OCCURENCE=1(breast) 0.094 NA 3.842715 1268 21 15537727 15537727 A G intronic LIPI NA NA NA intronic ENSG00000188992 NA NA NA NA NA 21q11.2 NA NA NA NA rs75730972 0.09 0.09 0.079 0.091853 0.0487 0.2222 0.072 0.0514 0.0706 0.04 0.22 0.05 0.05 0.065 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300921 NA NA 0.043762 0.038707 NA 0.058 NA 3.842538 1268 8 28998179 28998179 A G intronic KIF13B NA NA NA ncRNA_exonic ENSG00000254129 NA NA NA NA NA 8p12 NA NA NA NA rs2246691 0.2 0.2 0.175 0.209265 0.1451 0.2371 0.3573 0.1755 0.1871 0.14 0.24 0.32 0.17 0.1936 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.866814 NA NA 0.152328 0.163612 NA 0.254 NA 3.8423053 1268 15 51504811 51504811 A C intronic CYP19A1 NA NA NA ncRNA_intronic ENSG00000259240 NA NA NA NA NA 15q21.2 NA NA NA NA rs1065779 0.42 0.42 0.421 0.378395 0.4911 0.5228 0.3458 0.2194 0.3517 0.5 0.53 0.36 0.2 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369923 NA NA NA NA NA 0.341 NA 3.8422333 1268 15 51507508 51507508 T C intronic CYP19A1 NA NA NA ncRNA_intronic ENSG00000259240 NA NA NA NA NA 15q21.2 NA NA NA NA rs2289105 0.41 0.41 0.4 0.371805 0.4911 0.5258 0.3444 0.1929 0.3517 0.5 0.53 0.36 0.17 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132266 NA NA NA NA NA 0.326 NA 3.8422333 1268 15 78211345 78211345 A G ncRNA_exonic LOC645752 NA NA NA ncRNA_exonic ENSG00000260776 NA NA NA Score=251;Name=lod=14 NA 15q24.3 NA NA NA NA rs12592294 NA NA 0.81 0.802915 0.9463 0.8671 0.7522 0.7421 0.7076 NA NA NA NA 0.8782 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255953 NA NA NA NA NA 0.232 NA 3.8421666 1268 19 47342867 47342867 A C intronic AP2S1 NA NA NA exonic ENSG00000042753 NA nonsynonymous SNV ENSG00000042753:ENST00000352203:exon3:c.T164G:p.I55S NA NA 19q13.32 NA NA NA NA rs312185 0.54 0.54 0.518 0.590655 0.4066 0.5952 0.6239 0.6959 0.6094 0.39 0.57 0.63 0.67 0.4941 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660636 NA NA 0.423837 0.679301 NA 0.449 NA 3.8421297 1268 2 74746080 74746080 C T intronic DQX1 NA NA NA intronic ENSG00000144045 NA NA NA NA NA 2p13.1 NA NA NA NA rs6709863 0.34 0.34 0.326 0.351438 0.1581 0.8185 0.2622 0.1982 0.3395 0.15 0.82 0.2 0.19 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036423 NA NA NA NA NA 0.21 NA 3.8419 1268 5 176471284 176471284 T C intronic ZNF346 NA NA NA intronic ENSG00000113761 NA NA NA NA NA 5q35.2 NA NA NA NA rs58095821 0.13 0.13 NA 0.105032 0.1581 0.1915 0.0922 0.0287 0.0736 0.17 0.17 0.12 0.03 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96619 NA NA NA NA NA 0.159 NA 3.8419 1268 6 90390233 90390233 T C intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs72913976 0.09 0.09 0.084 0.105032 0.1581 0.0486 0.085 0.0613 0.182 0.15 0.04 0.07 0.06 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000238 NA NA NA NA NA 0.138 NA 3.8419 1268 6 160494068 160494068 C T intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs8191888 0.09 0.09 0.095 0.0876597 0.1581 0.002 0.1066 0.0787 0.1022 0.16 NA 0.13 0.09 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220009 NA NA NA NA NA 0.109 NA 3.8419 1268 8 82539212 82539212 C A intergenic FABP12,IMPA1 dist=95662;dist=29939 NA NA ncRNA_intronic ENSG00000251521 NA NA NA NA NA 8q21.13 NA NA NA NA rs2294005 0.23 0.23 0.208 0.191094 0.1581 0.5873 0.1527 0.0061 0.0941 0.16 0.59 0.14 0.02 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.772127 2.772127 NA NA NA NA 0.138 NA 3.8419 1268 9 134387326 134387326 G A intronic POMT1 NA NA NA intronic ENSG00000130714 NA NA NA NA NA 9q34.13 NA NA NA NA rs116150532 0.09 0.09 0.073 0.0840655 0.1581 0.001 0.0879 0.1316 0.0266 0.15 0.0017 0.09 0.1 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281241 NA NA NA NA NA 0.167 NA 3.8419 1268 11 117391736 117391736 A G intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs7936795 0.17 0.17 0.128 0.197684 0.1581 0.254 0.1873 0.0923 0.3303 0.16 0.26 0.17 0.07 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390916 NA NA NA NA NA 0.094 NA 3.8419 1268 12 125456048 125456048 A T intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs73229579 0.08 0.08 0.071 0.091254 0.1581 0.0506 0.0504 0.0038 0.2117 0.16 0.05 0.06 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358064 NA NA NA NA NA 0.029 NA 3.8419 1268 20 34142257 34142257 C T intronic ERGIC3 NA NA NA intronic ENSG00000125991 NA NA NA NA NA 20q11.22 NA NA NA NA rs60267524 0.15 0.15 0.134 0.192492 0.1581 0.1399 0.1657 0.1899 0.3047 0.14 0.13 0.18 0.17 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562399 NA NA NA NA NA 0.13 NA 3.8419 1268 20 34142287 34142287 G A intronic ERGIC3 NA NA NA intronic ENSG00000125991 NA NA NA NA NA 20q11.22 NA NA NA NA rs17092784 0.15 0.15 0.123 0.188898 0.1581 0.1399 0.1657 0.1762 0.3047 0.14 0.13 0.18 0.16 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075628 NA NA NA NA NA 0.123 NA 3.8419 1268 15 52708502 52708502 T C intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs61363656 0.08 0.08 0.072 0.0722843 0.0497 0.1597 0.0519 0.0303 0.0767 0.05 0.17 0.06 0.02 0.0621 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355081 NA NA 0.046337 0.027288 NA 0.087 NA 3.841863 1268 1 109171220 109171220 T G intronic FAM102B NA NA NA intronic ENSG00000162636 NA NA NA NA NA 1p13.3 NA NA NA NA rs77306348 0.03 0.03 0.028 0.0179712 0.0626 NA 0.0317 0.0008 0.0041 0.06 NA 0.04 0.0041 0.038 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162342 NA NA 0.057598 0.014561 NA 0.007 NA 3.841802 1268 1 224495852 224495852 C T exonic NVL NA synonymous SNV NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R exonic ENSG00000143748 NA synonymous SNV ENSG00000143748:ENST00000492281:exon2:c.G171A:p.R57R,ENSG00000143748:ENST00000361463:exon5:c.G138A:p.R46R,ENSG00000143748:ENST00000391875:exon5:c.G138A:p.R46R,ENSG00000143748:ENST00000436927:exon5:c.G144A:p.R48R,ENSG00000143748:ENST00000281701:exon6:c.G456A:p.R152R,ENSG00000143748:ENST00000467882:exon6:c.G456A:p.R152R NA NA 1q42.11 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs7534447 0.85 0.85 0.828 0.821685 0.9672 0.8899 0.9337 0.5295 0.9172 0.97 0.9 0.93 0.56 0.9143 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149059 NA NA 0.943488 0.600091 NA 0.826 NA 3.8416786 1268 20 9401928 9401928 G A intronic PLCB4 NA NA NA intronic ENSG00000101333 NA NA NA NA NA 20p12.2 NA NA NA NA rs6056608 0.14 0.14 0.12 0.144169 0.0447 0.2391 0.1599 0.1906 0.0746 0.05 0.22 0.15 0.17 0.0734 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193572 NA NA 0.040233 0.155697 NA 0.065 NA 3.841667 1268 14 58766617 58766617 A G intronic ARID4A NA NA NA intronic ENSG00000032219 NA NA NA NA NA 14q23.1 Score=808;Name=V$COMP1_01 NA Name=51 NA rs1957038 0.65 0.65 0.649 0.674121 0.7376 0.4107 0.6902 0.8086 0.6871 0.71 0.38 0.7 0.8 0.6902 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371929 NA NA 0.730581 0.784612 ID=COSN164689;OCCURENCE=1(breast) 0.688 NA 3.841619 1268 13 42189232 42189232 C G intronic VWA8 NA NA NA intronic ENSG00000102763 NA NA NA Score=284;Name=lod=19 NA 13q14.11 NA NA Name=72 NA rs3862741 0.68 0.68 0.647 0.697684 0.7107 0.7341 0.7594 0.5136 0.8517 0.71 0.72 0.76 0.52 0.7278 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.245534 1.245534 NA 0.719888 0.554033 ID=COSN164475;OCCURENCE=1(breast) 0.638 NA 3.841612 1268 11 9801925 9801925 T G ncRNA_UTR3 SBF2 NA NA NA ncRNA_exonic ENSG00000246273 NA NA NA NA NA 11p15.4 NA NA NA NA rs3751000 0.33 0.33 0.292 0.327476 0.2654 0.3294 0.3501 0.3517 0.3405 0.25 0.36 0.38 0.36 0.309 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.970506 NA NA 0.250699 0.314403 NA 0.362 NA 3.8415676 1268 5 43351682 43351682 A G intergenic HMGCS1,CCL28 dist=38068;dist=29918 NA NA intergenic ENSG00000188850,ENSG00000151882 dist=2864;dist=25065 NA NA Score=515;Name=lod=165 NA 5p12 NA NA NA NA rs11743633 0.36 0.36 0.321 0.336462 0.492 0.126 0.4323 0.2973 0.3783 0.49 0.16 0.47 0.31 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.540349 2.540349 NA NA NA NA 0.42 NA 3.8413334 1268 6 139264930 139264930 T G intronic REPS1 NA NA NA intronic ENSG00000135597 NA NA NA NA NA 6q24.1 NA NA NA NA rs6899737 0.23 0.23 0.233 0.240216 0.159 0.2569 0.1297 0.4455 0.1074 0.16 0.26 0.13 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320664 NA NA NA NA NA 0.217 NA 3.841 1268 10 106737026 106737026 T C intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs61867171 0.17 0.17 0.181 0.172324 0.159 NA 0.1571 0.4236 0.0348 0.15 NA 0.15 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060629 NA NA NA NA NA 0.159 NA 3.841 1268 22 20103012 20103012 G A intronic TRMT2A NA NA NA intronic ENSG00000099899 NA NA NA NA NA 22q11.21 NA NA NA NA rs77201758 0.04 0.04 0.042 0.0503195 0.0537 0.0813 0.0101 0.0045 0.1053 0.06 0.07 0.01 0.0041 0.0544 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43139 NA NA 0.051123 0.012084 NA 0.043 NA 3.840777 1268 17 8645010 8645010 G A intronic CCDC42 NA NA NA intronic ENSG00000161973 NA NA NA NA NA 17p13.1 NA NA NA NA rs79895013 0.03 0.03 0.031 0.0259585 0.0586 NA 0.0274 0.003 0.0491 0.06 NA 0.02 0.01 0.0488 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219352 NA NA 0.052209 0.012029 NA 0.007 NA 3.840391 1268 16 74706298 74706298 A T UTR3 MLKL NM_001142497:c.*104T>A,NM_152649:c.*104T>A NA NA UTR3 ENSG00000168404 ENST00000306247:c.*104T>A,ENST00000308807:c.*104T>A,ENST00000576529:c.*104T>A NA NA NA NA 16q23.1 NA NA NA NA rs4888274 0.63 0.63 0.651 0.647963 0.493 0.7907 0.4222 0.7723 0.6524 0.48 0.78 0.44 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294912 NA NA NA NA NA 0.623 NA 3.8403334 1268 6 97629689 97629689 C A ncRNA_intronic MIR548H3 NA NA NA intronic ENSG00000146263 NA NA NA NA NA 6q16.1 NA NA NA NA rs1206171 0.45 0.45 0.469 0.510184 0.493 0.246 0.4063 0.7209 0.589 0.48 0.22 0.41 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45167 NA NA NA NA NA 0.558 NA 3.8403333 1268 1 150471156 150471156 C T intronic TARS2 NA NA NA intronic ENSG00000143374 NA NA NA NA NA 1q21.3 NA NA NA NA rs34542152 0.04 0.04 0.042 0.0405351 0.0457 0.001 0.0331 0.09 0.0143 0.05 0.0017 0.03 0.09 0.0527 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.055581 2.055581 NA 0.061279 0.07921 NA 0.014 NA 3.840321 1268 15 51510702 51510702 T A intronic CYP19A1 NA NA NA ncRNA_intronic ENSG00000259240 NA NA NA NA NA 15q21.2 NA NA Name=25 NA rs1143704 0.41 0.41 0.418 0.366214 0.4881 0.5208 0.3415 0.1997 0.3241 0.49 0.53 0.35 0.18 0.4863 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.281631 1.281631 NA 0.518639 0.246241 ID=COSN164937;OCCURENCE=1(breast) 0.333 NA 3.8402943 1268 12 97303693 97303693 A C intronic NEDD1 NA NA NA intronic ENSG00000139350 NA NA NA NA NA 12q23.1 NA NA NA NA rs77544329 NA NA NA 0.0499201 0.0795 0.005 0.0663 0.0166 0.0992 NA NA NA NA 0.0799 0.0048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190726 NA NA 0.000465 0.004766 NA NA NA 3.840135 1268 7 77261820 77261820 T G intronic PTPN12 NA NA NA intronic ENSG00000127947 NA NA NA NA NA 7q11.23 NA NA NA NA rs12666778 0.36 0.36 0.344 0.375998 0.16 0.6915 0.4438 0.2542 0.3896 0.16 0.68 0.43 0.24 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090222 NA NA NA NA NA 0.348 NA 3.84 1268 16 24888454 24888454 C T intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs274074 0.22 0.22 0.212 0.247604 0.16 0.2192 0.255 0.2958 0.2965 0.15 0.22 0.25 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196803 NA NA NA NA NA 0.283 NA 3.84 1268 16 27512760 27512760 T C intronic GTF3C1 NA NA NA intronic ENSG00000077235 NA NA NA NA NA 16p12.1 NA NA NA NA rs232072 0.09 0.09 0.079 0.0688898 0.16 0.001 0.1844 0.0098 0.0429 0.16 NA 0.16 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125806 NA NA NA NA NA 0.036 NA 3.84 1268 19 20243477 20243477 A T intergenic ZNF90,ZNF486 dist=11500;dist=34546 NA NA ncRNA_intronic ENSG00000267220,ENSG00000267383 NA NA NA NA NA 19p12 NA NA NA NA rs1725944 0.41 0.41 0.434 0.419329 0.16 0.4494 0.2954 0.7859 0.2474 0.18 0.48 0.27 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93825 NA NA NA NA NA 0.391 NA 3.84 1268 19 38743371 38743371 C T intronic PPP1R14A NA NA NA intronic ENSG00000167641,ENSG00000167642 NA NA NA NA NA 19q13.2 NA NA NA NA rs55997240 0.16 0.16 0.125 0.147364 0.16 0.1885 0.2378 0.0552 0.1524 0.16 0.19 0.23 0.08 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871853 NA NA NA NA NA 0.167 NA 3.84 1268 20 1517979 1517979 G A intronic SIRPD NA NA NA ncRNA_intronic ENSG00000242324 NA NA NA NA NA 20p13 NA NA Name=3 NA rs2256229 0.28 0.28 0.267 0.271965 0.5258 0.0248 0.2622 0.2103 0.3558 0.52 0.02 0.31 0.18 0.4313 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961247 NA NA 0.536395 0.269405 ID=COSN166458;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(pancreas),1(large_intestine) 0.304 NA 3.8398383 1268 4 108944732 108944732 G A intronic HADH NA NA NA intronic ENSG00000138796 NA NA NA NA NA 4q25 NA NA NA NA rs17511214 0.03 0.03 0.028 0.0211661 0.0656 NA 0.0288 0.0015 0.0184 0.07 NA 0.02 0.002 0.0402 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.519336 2.519336 NA 0.054419 0.007263 NA 0.014 NA 3.839781 1268 11 33581262 33581262 G A intronic KIAA1549L NA NA NA intronic ENSG00000110427 NA NA NA NA NA 11p13 Score=881;Name=V$SRF_C NA NA NA rs2281381 0.39 0.39 0.383 0.383187 0.3887 0.3264 0.317 0.4486 0.3947 0.4 0.33 0.34 0.46 0.3856 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113763 NA NA 0.385967 0.446086 NA 0.391 NA 3.839733 1268 14 70714162 70714162 A G ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs4899340 0.81 0.81 0.716 0.834465 0.827 0.9038 0.8804 0.6959 0.9254 0.82 0.89 0.87 0.65 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200059 NA NA NA NA NA 0.638 NA 3.8396666 1268 6 30076630 30076630 G T intronic TRIM31 NA NA NA ncRNA_intronic ENSG00000231226 NA NA NA NA NA 6p22.1 NA NA NA NA rs2240068 0.54 0.54 0.522 0.566494 0.494 0.6935 0.5836 0.5598 0.5072 0.49 0.66 0.54 0.5 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.046195 NA NA NA NA NA 0.601 NA 3.8393333 1268 6 97575423 97575423 G C ncRNA_intronic MIR548H3 NA NA NA intronic ENSG00000186231 NA NA NA NA NA 6q16.1 NA NA NA NA rs1612775 0.47 0.47 0.505 0.538938 0.494 0.246 0.4092 0.8434 0.5675 0.48 0.22 0.41 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050482 NA NA NA NA NA 0.594 NA 3.8393333 1268 6 54245270 54245270 A G intronic TINAG NA NA NA intronic ENSG00000137251 NA NA NA NA NA 6p12.1 NA NA NA NA rs16885273 0.06 0.06 0.055 0.0589058 0.0865 0.004 0.0519 0.0696 0.0777 0.08 0.01 0.07 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268158 NA NA 0.074167 0.071532 NA 0.029 NA 3.839333 1268 11 1213405 1213405 G A intergenic MUC2,MUC5B dist=108988;dist=30890 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=51044;dist=30891 NA NA NA NA 11p15.5 NA NA Name=35 NA rs67262263 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4941 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097654 NA NA NA NA NA 0.007 NA 3.8392334 1268 2 85824073 85824073 T C intronic RNF181 NA NA NA intronic ENSG00000168894 NA NA NA NA NA 2p11.2 NA NA NA NA rs2232747 0.23 0.23 0.235 0.227636 0.0358 0.2966 0.0807 0.5197 0.0634 0.04 0.32 0.08 0.55 0.0979 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.626762 NA NA 0.027093 0.437131 ID=COSN166156;OCCURENCE=1(breast) 0.261 NA 3.839207 1268 7 43506193 43506193 G A intronic HECW1 NA NA NA intronic ENSG00000002746 NA NA NA NA NA 7p13 NA NA NA NA rs34399842 0.03 0.03 0.014 0.0195687 0.0567 NA 0.0447 0.0008 0.0092 0.06 NA 0.05 NA 0.0483 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180762 NA NA 0.055921 0.011158 NA 0.007 NA 3.839079 1268 1 24657860 24657860 A G intronic GRHL3 NA NA NA intronic ENSG00000158055 NA NA NA NA NA 1p36.11 NA NA NA NA rs2486669 0.2 0.2 0.188 0.210264 0.161 0.1925 0.1455 0.3434 0.1452 0.17 0.18 0.16 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46576 NA NA NA NA NA 0.283 NA 3.839 1268 12 48457385 48457385 C T intronic SENP1 NA NA NA intronic ENSG00000079387 NA NA NA NA NA 12q13.11 NA NA NA NA rs3742074 0.34 0.34 0.312 0.346046 0.161 0.5972 0.4568 0.2337 0.3507 0.16 0.57 0.45 0.27 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176736 NA NA NA NA NA 0.21 NA 3.839 1268 16 27473860 27473860 G A intronic GTF3C1 NA NA NA intronic ENSG00000077235 NA NA NA NA NA 16p12.1 NA NA NA NA rs12932325 0.09 0.09 0.077 0.0686901 0.161 0.001 0.1844 0.0098 0.0409 0.17 NA 0.16 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306277 NA NA NA NA NA 0.036 NA 3.839 1268 16 27523308 27523308 A G intronic GTF3C1 NA NA NA intronic ENSG00000077235 NA NA NA NA NA 16p12.1 NA NA NA NA rs232079 0.15 0.15 0.142 0.154952 0.161 0.001 0.2089 0.3253 0.0389 0.17 NA 0.19 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.013299 NA NA NA NA NA 0.145 NA 3.839 1268 15 33922273 33922273 C T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs11632118 0.05 0.05 0.054 0.048123 0.0507 0.0645 0.0533 0.034 0.044 0.05 0.08 0.05 0.04 0.0646 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575885 NA NA 0.045855 0.03515 NA 0.022 NA 3.838845 1268 22 20126702 20126702 C T intronic ZDHHC8 NA NA NA intronic ENSG00000099904 NA NA NA NA NA 22q11.21 NA NA NA NA rs45450699 0.04 0.04 0.039 0.0501198 0.0527 0.0813 0.0101 0.0045 0.1053 0.06 0.07 0.01 0.0041 0.055 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.650565 NA NA 0.053721 0.011348 NA 0.043 NA 3.838579 1268 16 1394430 1394430 C T intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA NA Name=2 NA rs12597545 0.3 0.3 0.249 0.289337 0.3956 0.2123 0.5375 0.1324 0.2955 0.4 0.17 0.5 0.15 0.3752 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131963 NA NA 0.390698 0.179854 NA 0.225 NA 3.838502 1268 2 105716266 105716266 A G UTR3 MRPS9 NM_182640:c.*47A>G NA NA ncRNA_UTR3 ENSG00000135972 NA NA NA NA NA 2q12.1 NA NA NA NA rs9066 0.18 0.18 0.15 0.166334 0.2247 0.1091 0.2781 0.1316 0.1329 0.22 0.13 0.25 0.13 0.1967 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447065 NA NA 0.240116 0.142306 NA 0.123 NA 3.838484 1268 8 28989789 28989789 T C intronic KIF13B NA NA NA ncRNA_intronic ENSG00000254129 NA NA NA NA NA 8p12 NA NA NA NA rs9644054 0.17 0.17 0.15 0.164337 0.1501 0.1657 0.3473 0.062 0.1861 0.15 0.2 0.31 0.06 0.1881 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17891 NA NA 0.15681 0.071627 ID=COSN168298;OCCURENCE=2(large_intestine) 0.188 NA 3.8383233 1268 5 137622388 137622388 C G intronic CDC25C NA NA NA intronic ENSG00000158402 NA NA NA NA NA 5q31.2 NA NA NA NA rs10515500 0.1 0.1 0.076 0.0798722 0.162 0.0228 0.1527 0.0166 0.0879 0.16 0.02 0.2 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.87165 NA NA NA NA NA 0.13 NA 3.838 1268 1 54272063 54272063 A T intronic TMEM48 NA NA NA intronic ENSG00000058804 NA NA NA NA NA 1p32.3 NA NA NA NA rs1181146 0.11 0.11 0.133 0.130391 0.0497 0.004 0.0749 0.4077 0.0082 0.05 0.01 0.07 0.37 0.0632 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036445 NA NA 0.049535 0.325919 NA 0.13 NA 3.837565 1268 8 142955724 142955724 C G intergenic MROH5,MIR4472-1 dist=438394;dist=301976 NA NA intergenic ENSG00000226490,ENSG00000221123 dist=426887;dist=71136 NA NA Score=484;Name=lod=124 NA 8q24.3 NA NA NA NA rs62512203 NA NA NA 0.490216 0.496 0.4752 0.4914 0.4962 0.4908 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479724 NA NA NA NA NA NA NA 3.8373334 1268 2 241808463 241808463 A G intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs66494441 0.15 0.15 0.133 NA NA NA NA NA NA 0.2 0.08 0.14 0.15 0.1628 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543465 NA NA NA NA NA 0.152 NA 3.8372 1268 22 20096395 20096395 A G intronic DGCR8 NA NA NA intronic ENSG00000128191 NA NA NA NA NA 22q11.21 NA NA NA NA rs77725161 0.04 0.04 0.047 0.0507188 0.0547 0.0813 0.0101 0.0053 0.1053 0.06 0.07 0.01 0.0041 0.0541 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58139 NA NA 0.05407 0.01271 NA 0.036 NA 3.83713 1268 2 168570458 168570458 T C intergenic XIRP2,B3GALT1 dist=454197;dist=104724 NA NA ncRNA_exonic ENSG00000214211 NA NA NA NA NA 2q24.3 NA NA NA NA rs13412132 0.14 0.14 0.139 0.110024 0.163 0.1766 0.0605 0.0492 0.1043 0.15 0.22 0.08 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043591 NA NA NA NA NA 0.21 NA 3.837 1268 6 149813362 149813362 C A intergenic ZC3H12D,PPIL4 dist=7214;dist=12269 NA NA ncRNA_exonic ENSG00000219553 NA NA NA NA NA 6q25.1 NA NA NA NA rs4897128 0.33 0.33 0.289 0.330471 0.163 0.7669 0.4452 0.0825 0.3067 0.15 0.75 0.39 0.09 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36875 NA NA NA NA NA 0.246 NA 3.837 1268 19 20359950 20359950 T C intergenic ZNF486,MIR1270-1 dist=48651;dist=150131 NA NA ncRNA_exonic ENSG00000268620 NA NA NA NA NA 19p12 NA NA NA NA rs57015009 0.23 0.23 0.206 0.233427 0.163 0.4613 0.2939 0.0393 0.2904 0.16 0.5 0.24 0.03 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.893983 NA NA NA NA NA 0.188 NA 3.837 1268 7 150915102 150915102 C T intronic ABCF2 NA NA NA intronic ENSG00000033050 NA NA NA NA NA 7q36.1 NA NA NA NA rs79537035 0.07 0.07 0.061 0.052516 0.163 0.001 0.0937 0.0053 0.0266 0.16 0.0017 0.09 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64102 NA NA NA NA NA 0.152 NA 3.837 1268 10 6552852 6552852 C T intronic PRKCQ NA NA NA intronic ENSG00000065675 NA NA NA NA NA 10p15.1 NA NA NA NA rs563798 0.08 0.08 0.072 0.0834665 0.163 0.0387 0.1196 0.0076 0.1247 0.15 0.04 0.12 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678599 NA NA NA NA NA 0.065 NA 3.837 1268 10 105901936 105901936 G A intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA NA NA NA rs637022 0.28 0.28 0.315 0.303514 0.163 0.2292 0.1571 0.6445 0.1677 0.15 0.23 0.17 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633805 NA NA NA NA NA 0.319 NA 3.837 1268 11 110477212 110477212 C A intronic ARHGAP20 NA NA NA intronic ENSG00000137727 NA NA NA NA NA 11q23.1 NA NA NA NA rs326938 0.18 0.18 0.161 0.177117 0.163 0.1409 0.0908 0.2716 0.1626 0.18 0.12 0.09 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.079188 NA NA NA NA NA 0.225 NA 3.837 1268 14 20858944 20858944 T C intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs4981171 0.03 0.03 0.027 0.0333466 0.0577 NA 0.0274 0.0098 0.0787 0.06 NA 0.03 0.01 0.0498 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704354 NA NA 0.055698 0.017249 NA 0.014 NA 3.836802 1268 2 171070850 171070850 G T intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA Name=YY1_(C-20) NA NA rs13423313 0.4 0.4 0.403 0.40615 0.3777 0.4484 0.3199 0.4244 0.4284 0.38 0.45 0.38 0.37 0.3991 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323808 NA NA 0.386545 0.388542 NA 0.268 NA 3.836655 1268 10 133966434 133966434 C T intronic JAKMIP3 NA NA NA intronic ENSG00000188385 NA NA NA NA NA 10q26.3 NA NA NA NA rs11146215 0.17 0.17 0.169 0.150759 0.0288 0.4851 0.0231 0.0938 0.0992 0.04 0.49 0.02 0.11 0.1135 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826003 NA NA 0.021105 0.08212 NA 0.109 NA 3.836595 1268 1 186077463 186077463 A G ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs1555495 0.63 0.63 0.649 0.633187 0.497 0.5744 0.6441 0.8737 0.501 0.51 0.6 0.64 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30523 NA NA NA NA NA 0.696 NA 3.8363333 1268 3 15807692 15807692 A G intronic ANKRD28 NA NA NA intronic ENSG00000206560 NA NA NA NA NA 3p25.1 NA NA NA NA rs73038264 0.04 0.04 0.027 0.0229633 0.0696 NA 0.0418 0.003 0.0123 0.07 NA 0.05 0.01 0.0403 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.741601 1.741601 NA 0.053908 0.008796 NA 0.022 NA 3.836192 1268 19 45731564 45731564 G A intronic EXOC3L2 NA NA NA intronic ENSG00000007047,ENSG00000130201 NA NA NA NA NA 19q13.32 NA NA NA NA rs56187099 0.09 0.09 0.094 0.0926518 0.0447 0.1171 0.036 0.1543 0.0736 0.05 0.13 0.03 0.17 0.07 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491769 NA NA 0.049115 0.141136 NA 0.094 NA 3.836185 1268 2 85823632 85823632 C T intronic RNF181 NA NA NA intronic ENSG00000168894 NA NA NA NA NA 2p11.2 NA NA NA NA rs2232745 0.23 0.23 0.249 0.226637 0.0358 0.2927 0.0807 0.5189 0.0634 0.04 0.32 0.08 0.54 0.1011 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.093811 NA NA 0.026977 0.435542 ID=COSM148887;OCCURENCE=1(stomach) 0.261 NA 3.836123 1268 5 24511368 24511368 C T intronic CDH10 NA NA NA intronic ENSG00000040731 NA NA NA NA NA 5p14.2 NA NA NA NA rs3797168 0.08 0.08 0.083 0.0734824 0.164 0.0268 0.0908 0.0076 0.1053 0.17 0.03 0.09 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305133 NA NA NA NA NA 0.087 NA 3.836 1268 12 32871481 32871481 G A intronic DNM1L NA NA NA intronic ENSG00000087470 NA NA NA NA NA 12p11.21 NA NA NA NA rs10844314 0.14 0.14 0.142 0.144369 0.164 0.0833 0.1052 0.2156 0.1186 0.16 0.07 0.1 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089547 NA NA NA NA NA 0.101 NA 3.836 1268 12 92924921 92924921 T C intergenic CLLU1,C12orf74 dist=100191;dist=171698 NA NA ncRNA_exonic ENSG00000258262 NA NA NA NA NA 12q22 NA NA NA NA rs10859334 0.2 0.2 0.201 0.185703 0.164 0.4018 0.1614 0.0257 0.2188 0.16 0.41 0.17 0.04 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302994 NA NA NA NA NA 0.116 NA 3.836 1268 13 26692949 26692949 G A intergenic SHISA2,RNF6 dist=67751;dist=93956 NA NA ncRNA_intronic ENSG00000233963,ENSG00000234706 NA NA NA NA NA 13q12.13 NA NA NA NA rs112460253 0.14 0.14 0.091 0.129393 0.164 0.1617 0.2262 0.0068 0.1575 0.16 0.17 0.23 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.522902 1.522902 NA NA NA NA 0.072 NA 3.836 1268 14 56645265 56645265 C T intronic PELI2 NA NA NA intronic ENSG00000139946 NA NA NA NA NA 14q22.3 NA NA NA NA rs17762499 0.1 0.1 0.095 0.0820687 0.164 NA 0.1095 0.09 0.0521 0.17 NA 0.12 0.09 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872528 NA NA NA NA NA 0.029 NA 3.836 1268 14 92622679 92622679 T A intronic CPSF2 NA NA NA intronic ENSG00000165934 NA NA NA NA NA 14q32.12 NA NA NA NA rs45600140 0.23 0.23 0.25 0.24401 0.164 0.3194 0.1052 0.298 0.274 0.17 0.31 0.1 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103773 NA NA NA NA NA 0.246 NA 3.836 1268 14 94933377 94933377 A T intronic SERPINA9 NA NA NA intronic ENSG00000170054 NA NA NA NA NA 14q32.13 NA NA NA NA rs28694507 0.15 0.15 0.152 0.138778 0.164 0.1825 0.1138 0.1195 0.1115 0.17 0.2 0.11 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638221 NA NA NA NA NA 0.101 NA 3.836 1268 17 80622290 80622290 A G intronic RAB40B NA NA NA intronic ENSG00000141542 NA NA NA NA NA 17q25.3 NA NA NA NA rs2279393 0.2 0.2 0.16 0.209465 0.164 0.2391 0.2277 0.1566 0.2843 0.16 0.24 0.25 0.17 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183341 NA NA NA NA NA 0.109 NA 3.836 1268 21 44482936 44482936 C T intronic CBS NA NA NA intronic ENSG00000160200 NA NA NA NA NA 21q22.3 NA NA NA NA rs1789953 0.13 0.13 0.118 0.148163 0.164 0.125 0.245 0.0741 0.1871 0.15 0.12 0.2 0.06 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02468 NA NA NA NA NA 0.159 NA 3.836 1268 3 194158010 194158010 A T intronic ATP13A3 NA NA NA intronic ENSG00000133657 NA NA NA NA NA 3q29 NA NA NA NA rs9858373 0.13 0.13 0.151 0.157947 0.0417 0.1558 0.1023 0.289 0.1421 0.04 0.14 0.1 0.3 0.0802 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057777 NA NA 0.042392 0.25 NA 0.116 NA 3.835708 1268 22 49103660 49103660 T C intronic FAM19A5 NA NA NA intronic ENSG00000219438 NA NA NA NA NA 22q13.32 Score=922;Name=V$MSX1_01 NA Name=3 NA rs132234 0.72 0.72 0.725 0.691494 0.7197 0.6696 0.6657 0.7829 0.5798 0.73 0.67 0.7 0.79 0.7062 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369151 NA NA 0.738507 0.7843 NA 0.812 NA 3.835593 1268 2 30480196 30480196 C G intronic LBH NA NA NA intronic ENSG00000213626 NA NA NA NA NA 2p23.1 NA NA NA NA rs6548005 0.21 0.21 0.189 0.174121 0.165 0.1548 0.317 0.2277 0.0297 0.17 0.2 0.27 0.21 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922885 NA NA NA NA NA 0.174 NA 3.835 1268 6 76550237 76550237 A G intronic MYO6 NA NA NA intronic ENSG00000196586 NA NA NA NA NA 6q14.1 NA NA NA NA rs12216518 0.11 0.11 0.116 0.102835 0.165 0.0387 0.1023 0.1112 0.0941 0.16 0.04 0.12 0.11 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5623 NA NA NA NA NA 0.225 NA 3.835 1268 10 71696413 71696413 C T intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA NA NA 10q22.1 NA NA NA NA rs12571041 0.19 0.19 0.167 0.184904 0.165 0.3313 0.2579 0.0053 0.2454 0.17 0.35 0.21 0.01 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572839 NA NA NA NA NA 0.094 NA 3.835 1268 10 105194476 105194476 C T intronic PDCD11 NA NA NA intronic ENSG00000148843 NA NA NA NA NA 10q24.33 NA NA NA NA rs4917389 0.08 0.08 0.068 0.0682907 0.165 0.003 0.1196 0.0129 0.0746 0.17 0.0035 0.11 0.02 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195677 NA NA NA NA NA 0.058 NA 3.835 1268 12 335434 335434 C G intronic SLC6A13 NA NA NA intronic ENSG00000010379 NA NA NA NA NA 12p13.33 NA NA NA NA rs3782867 0.13 0.13 0.1 0.102835 0.165 0.1438 0.1225 0.0431 0.0634 0.17 0.14 0.14 0.04 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070608 NA NA NA NA NA 0.087 NA 3.835 1268 19 8932087 8932087 G A intronic ZNF558 NA NA NA intronic ENSG00000167785 NA NA NA NA NA 19p13.2 NA NA NA NA rs111962098 0.13 0.13 0.107 0.15635 0.165 0.1696 0.1614 0.0703 0.2464 0.15 0.12 0.17 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018487 NA NA NA NA NA 0.087 NA 3.835 1268 19 52012542 52012542 C T intergenic SIGLEC12,SIGLEC6 dist=7499;dist=10242 NA NA ncRNA_exonic ENSG00000269580 NA NA NA NA NA 19q13.41 NA NA NA NA rs75470949 0.11 0.11 0.093 0.0864617 0.165 0.002 0.085 0.1286 0.0368 0.16 0.0017 0.1 0.15 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329674 NA 0.22 NA NA NA 0.145 NA 3.835 1268 19 52012549 52012549 T G intergenic SIGLEC12,SIGLEC6 dist=7506;dist=10235 NA NA ncRNA_exonic ENSG00000269580 NA NA NA NA NA 19q13.41 NA NA NA NA rs77569980 0.11 0.11 0.091 0.0860623 0.165 NA 0.085 0.1286 0.0368 0.16 NA 0.1 0.15 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357781 NA 1 NA NA NA 0.145 NA 3.835 1268 19 53418693 53418693 C T intergenic ZNF320,ZNF816-ZNF321P dist=24094;dist=11695 NA NA ncRNA_intronic ENSG00000213793 NA NA NA NA NA 19q13.41 NA NA NA NA rs7248528 0.29 0.29 0.215 0.284744 0.165 0.2817 0.428 0.3691 0.1953 0.19 0.3 0.35 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390047 NA NA NA NA NA 0.239 NA 3.835 1269 19 613898 613898 T C exonic HCN2 NA synonymous SNV HCN2:NM_001194:exon7:c.T1872C:p.A624A exonic ENSG00000099822 NA synonymous SNV ENSG00000099822:ENST00000251287:exon7:c.T1872C:p.A624A NA NA 19p13.3 NA NA NA NA rs1054786 0.77 0.77 0.691 0.821685 0.5865 0.8958 0.7349 0.9796 0.8354 0.56 0.89 0.73 0.95 0.6699 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495579 NA NA 0.575401 0.916629 NA NA NA 3.8348656 1269 16 84486903 84486903 C T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs114737121 0.03 0.03 0.024 0.0247604 0.0626 0.0069 0.0331 0.0068 0.0225 0.06 0.0017 0.05 0.01 0.0428 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171989 NA NA 0.059757 0.017977 NA 0.014 NA 3.834843 1269 7 149520413 149520413 A C intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs59644006 0.24 0.24 0.211 0.246805 0.1541 0.248 0.1758 0.447 0.1207 0.14 0.24 0.17 0.44 0.1855 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769453 NA NA 0.158902 0.37506 NA 0.312 NA 3.8348313 1269 8 121483019 121483019 C G intronic MTBP NA NA NA intronic ENSG00000172167 NA NA NA NA NA 8q24.12 NA NA NA NA rs7832491 0.05 0.05 0.047 0.0551118 0.0577 0.0903 0.0231 0.0053 0.1063 0.06 0.07 0.04 0.01 0.0564 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181944 NA NA 0.05107 0.013624 NA 0.072 NA 3.83483 1269 17 19729495 19729495 T C exonic ULK2 NA synonymous SNV ULK2:NM_001142610:exon11:c.A792G:p.A264A,ULK2:NM_014683:exon11:c.A792G:p.A264A exonic ENSG00000083290 NA synonymous SNV ENSG00000083290:ENST00000361658:exon11:c.A792G:p.A264A,ENSG00000083290:ENST00000395544:exon11:c.A792G:p.A264A Score=574;Name=lod=288 NA 17p11.2 NA NA NA NA rs157397 0.81 0.81 0.792 0.794129 0.9642 0.5923 0.8948 0.7489 0.817 0.96 0.6 0.9 0.77 0.901 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925888 NA NA 0.967171 0.796868 NA 0.101 NA 3.8342956 1269 1 109727832 109727832 A G intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA NA NA rs12239854 0.13 0.13 0.131 0.1252 0.166 0.003 0.1282 0.2421 0.0491 0.15 0.0017 0.13 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081021 NA NA NA NA NA 0.138 NA 3.834 1269 2 231113499 231113499 G A intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs13426106 0.11 0.11 0.107 0.107228 0.166 0.001 0.1124 0.1089 0.1503 0.18 NA 0.14 0.13 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.067365 NA NA NA NA NA 0.116 NA 3.834 1269 3 41841873 41841873 C T intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs17215883 0.09 0.09 0.088 0.0830671 0.166 0.002 0.0879 0.0613 0.1074 0.18 0.0035 0.08 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.274579 NA NA NA NA NA 0.13 NA 3.834 1269 8 133975056 133975056 A C intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs7844210 0.33 0.33 0.311 0.359425 0.166 0.499 0.2795 0.4834 0.3037 0.16 0.48 0.28 0.45 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370665 NA NA NA NA NA 0.37 NA 3.834 1269 9 125148632 125148632 A G intronic PTGS1 NA NA NA intronic ENSG00000095303,ENSG00000269738 NA NA NA NA NA 9q33.2 NA NA NA NA rs6478565 0.26 0.26 0.284 0.306709 0.166 0.0665 0.281 0.6944 0.1933 0.16 0.06 0.28 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610762 NA NA NA NA NA 0.413 NA 3.834 1269 10 105330947 105330947 T A intronic NEURL NA NA NA intronic ENSG00000107954 NA NA NA NA NA 10q24.33 NA NA NA NA rs12253987 0.22 0.22 0.208 0.285942 0.166 0.1647 0.3127 0.4357 0.3129 0.15 0.11 0.28 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384403 NA NA NA NA NA 0.058 NA 3.834 1269 11 49897846 49897846 C T intergenic LOC440040,OR4C13 dist=65877;dist=76097 NA NA ncRNA_exonic ENSG00000255190 NA NA NA NA NA 11p11.12 NA NA NA NA rs7947702 0.23 0.23 0.213 0.222843 0.166 0.1954 0.1398 0.3835 0.1513 0.18 0.22 0.14 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696578 NA NA NA NA ID=COSN163932;OCCURENCE=1(NS) 0.246 NA 3.834 1269 16 89616790 89616790 G A intronic SPG7 NA NA NA intronic ENSG00000197912 NA NA NA NA NA 16q24.3 NA NA NA NA rs66845605 0.16 0.16 0.134 0.146366 0.166 0.128 0.1225 0.1619 0.1411 0.17 0.13 0.13 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760912 NA NA NA NA NA 0.116 NA 3.834 1269 17 43008905 43008905 C A intronic KIF18B NA NA NA intronic ENSG00000186185 NA NA NA NA NA 17q21.31 NA NA NA NA rs7218001 0.12 0.12 0.117 0.120807 0.166 0.0139 0.1369 0.1172 0.1779 0.16 0.02 0.17 0.15 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254529 NA NA NA NA NA 0.109 NA 3.834 1269 21 15884955 15884955 A T intronic SAMSN1 NA NA NA intronic ENSG00000155307 NA NA NA NA NA 21q11.2 NA NA NA NA rs3761321 0.22 0.22 0.201 0.230232 0.166 0.2788 0.1182 0.3714 0.135 0.15 0.29 0.11 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014337 NA NA NA NA NA 0.181 NA 3.834 1269 3 47162661 47162661 A G exonic SETD2 NA synonymous SNV SETD2:NM_014159:exon3:c.T3465C:p.N1155N exonic ENSG00000181555 NA synonymous SNV ENSG00000181555:ENST00000409792:exon3:c.T3465C:p.N1155N,ENSG00000181555:ENST00000412450:exon3:c.T3333C:p.N1111N NA NA 3p21.31 NA NA NA NA rs6767907 0.68 0.68 0.66 0.678315 0.6074 0.6577 0.6816 0.7837 0.6278 0.61 0.67 0.71 0.79 0.6343 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356998 NA NA 0.591163 0.749433 NA 0.71 NA 3.8338036 1269 11 1213533 1213533 C T intergenic MUC2,MUC5B dist=109116;dist=30762 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=51172;dist=30763 NA NA NA NA 11p15.5 NA NA Name=35 NA rs73395699 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4996 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701543 NA NA NA NA NA 0.123 NA 3.8337334 1269 1 1647753 1647753 C T intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs74045984 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA 0.4997 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648222 NA NA NA NA NA NA NA 3.8336333 1269 18 10540299 10540299 A G intronic NAPG NA NA NA intronic ENSG00000134265 NA NA NA NA NA 18p11.22 NA NA NA NA rs17546495 0.02 0.02 0.015 0.0169728 0.0586 NA 0.0202 0.003 0.0082 0.06 NA 0.02 0.002 0.0454 0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233518 1.233518 NA 0.062561 0.010434 NA NA NA 3.833439 1269 1 144952078 144952078 C A UTR3 PDE4DIP NM_001195261:c.*119G>T,NM_001195260:c.*119G>T,NM_001002810:c.*119G>T,NM_022359:c.*119G>T NA NA UTR3 ENSG00000178104 ENST00000369347:c.*119G>T,ENST00000369348:c.*119G>T NA NA NA NA 1q21.1 NA NA NA NA rs2590121 NA NA 0.371 NA NA NA NA NA NA NA NA NA NA 0.4999 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171815 NA NA NA NA NA NA NA 3.8334334 1269 17 21217586 21217586 G T UTR3 MAP2K3 NM_145109:c.*44G>T,NM_002756:c.*44G>T NA NA UTR3 ENSG00000034152 ENST00000342679:c.*44G>T,ENST00000395491:c.*1072G>T,ENST00000496046:c.*514G>T,ENST00000361818:c.*44G>T,ENST00000316920:c.*44G>T NA NA NA NA 17p11.2 NA NA NA NA rs2363374 0.5 0.5 0.43 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885002 NA NA NA NA NA 0.145 NA 3.8334334 1269 1 144874950 144874950 G A intronic NBPF9,PDE4DIP NA NA NA ncRNA_exonic ENSG00000254913 NA NA NA NA NA 1q21.1 NA NA NA NA rs1747957 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003062 NA NA NA NA NA 0.5 NA 3.8334333 1269 17 21217547 21217547 T C UTR3 MAP2K3 NM_145109:c.*5T>C,NM_002756:c.*5T>C NA NA UTR3 ENSG00000034152 ENST00000342679:c.*5T>C,ENST00000395491:c.*1033T>C,ENST00000496046:c.*475T>C,ENST00000361818:c.*5T>C,ENST00000316920:c.*5T>C NA NA NA NA 17p11.2 NA NA NA NA rs2363197 0.5 0.5 0.41 0.000199681 NA NA 0.0014 NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013952 NA NA NA NA NA 0.29 NA 3.8333334 1269 17 21217554 21217554 C T UTR3 MAP2K3 NM_145109:c.*12C>T,NM_002756:c.*12C>T NA NA UTR3 ENSG00000034152 ENST00000342679:c.*12C>T,ENST00000395491:c.*1040C>T,ENST00000496046:c.*482C>T,ENST00000361818:c.*12C>T,ENST00000316920:c.*12C>T NA NA NA NA 17p11.2 NA NA NA NA rs2363196 0.5 0.5 0.42 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775136 NA NA NA NA NA 0.29 NA 3.8333334 1269 21 11110302 11110302 T C intergenic BAGE,NONE dist=11365;dist=NONE NA NA intergenic ENSG00000187172,ENSG00000231962 dist=11322;dist=43535 NA NA NA NA 21p11.1 NA NA Name=32 NA rs8133925 NA NA NA 0.500998 0.5 0.496 0.5029 0.5053 0.5 NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321166 NA NA NA NA NA 0.478 NA 3.8333334 1269 1 121116647 121116647 T A intronic SRGAP2D NA NA NA ncRNA_intronic ENSG00000171943,ENSG00000230806 NA NA NA NA NA 1p11.2 NA NA NA NA rs2772072 NA NA 0.144 NA NA NA NA NA NA NA NA NA NA 0.5 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.981811 NA NA NA NA NA 0.014 NA 3.8333333 1269 11 192997 192997 G A upstream LOC653486,SCGB1C1 NA NA NA intronic ENSG00000177951 NA NA NA NA NA 11p15.5 NA NA NA NA rs2280540 0.24 0.24 0.19 NA NA NA NA NA NA 0.16 0.38 0.23 0.19 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.246128 NA NA NA NA NA 0.13 NA 3.8333333 1269 11 113802600 113802600 C T intronic HTR3B NA NA NA intronic ENSG00000149305 NA NA NA NA NA 11q23.2 NA NA NA NA rs45597437 0.05 0.05 0.044 0.0529153 0.0567 NA 0.0634 0.1097 0.0194 0.04 NA 0.08 0.09 0.0514 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.384743 NA NA 0.058659 0.088823 NA NA NA 3.833241 1269 11 1213428 1213428 T C intergenic MUC2,MUC5B dist=109011;dist=30867 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=51067;dist=30868 NA NA NA NA 11p15.5 NA NA Name=35 NA rs61867532 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705858 NA NA NA NA NA NA NA 3.8332334 1269 15 42201872 42201872 T C intronic EHD4 NA NA NA intronic ENSG00000103966 NA NA NA NA NA 15q15.1 NA NA NA NA rs76085783 0.03 0.03 0.023 0.0351438 0.0517 0.0129 0.0634 0.0015 0.0665 0.06 0.02 0.06 0.002 0.0577 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067441 NA NA 0.057572 0.012029 NA 0.029 NA 3.833028 1269 8 77690380 77690380 C G intronic ZFHX4 NA NA NA intronic ENSG00000091656 NA NA NA NA NA 8q21.11 NA NA NA NA rs12679822 0.33 0.33 0.349 0.32508 0.167 0.3899 0.2104 0.5681 0.1738 0.17 0.43 0.23 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192652 NA NA NA NA NA 0.29 NA 3.833 1269 11 49860044 49860044 A G intergenic LOC440040,OR4C13 dist=28075;dist=113899 NA NA ncRNA_intronic ENSG00000219061 NA NA NA NA NA 11p11.12 NA NA NA NA rs10839398 0.22 0.22 0.228 0.213059 0.167 0.1954 0.1383 0.3449 0.1534 0.18 0.22 0.13 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634458 NA NA NA NA NA 0.239 NA 3.833 1269 11 49860762 49860762 G A intergenic LOC440040,OR4C13 dist=28793;dist=113181 NA NA ncRNA_exonic ENSG00000219061 NA NA NA NA NA 11p11.12 NA NA NA NA rs11040588 0.23 0.23 0.21 0.222843 0.167 0.1954 0.1398 0.382 0.1524 0.18 0.22 0.14 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351306 NA NA NA NA NA 0.246 NA 3.833 1269 11 50129598 50129598 G A intergenic OR4C12,LOC441601 dist=125527;dist=109401 NA NA ncRNA_exonic ENSG00000255442 NA NA NA NA NA 11p11.12 NA NA NA NA rs7104653 0.21 0.21 0.217 0.206869 0.167 0.131 0.1412 0.3722 0.1493 0.18 0.14 0.13 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.180541 NA NA NA NA NA 0.217 NA 3.833 1269 12 55916780 55916780 A G intergenic OR6C68,OR6C4 dist=29680;dist=28231 NA NA ncRNA_exonic ENSG00000234670 NA NA NA NA NA 12q13.2 NA NA NA NA rs12230513 0.21 0.21 0.188 0.20028 0.167 0.4444 0.2205 0.0794 0.1319 0.17 0.39 0.16 0.09 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.122914 2.122914 NA NA NA NA 0.087 NA 3.833 1269 19 20262530 20262530 A G intergenic ZNF90,ZNF486 dist=30553;dist=15493 NA NA ncRNA_intronic ENSG00000267220,ENSG00000267383 NA NA NA NA NA 19p12 NA NA NA NA rs1620631 0.39 0.39 0.411 0.403754 0.167 0.4484 0.2839 0.7398 0.2321 0.18 0.48 0.25 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206442 NA NA NA NA NA 0.362 NA 3.833 1269 19 20262585 20262585 C T intergenic ZNF90,ZNF486 dist=30608;dist=15438 NA NA ncRNA_intronic ENSG00000267220,ENSG00000267383 NA NA NA NA NA 19p12 NA NA NA NA rs1654305 0.35 0.35 0.357 0.355032 0.167 0.4484 0.2637 0.5658 0.2321 0.18 0.48 0.23 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535095 NA NA NA NA NA 0.312 NA 3.833 1269 19 53418706 53418706 C T intergenic ZNF320,ZNF816-ZNF321P dist=24107;dist=11682 NA NA ncRNA_intronic ENSG00000213793 NA NA NA NA NA 19q13.41 NA NA NA NA rs7248531 0.29 0.29 0.234 0.289537 0.167 0.2827 0.4323 0.3835 0.1943 0.19 0.3 0.35 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641356 NA NA NA NA NA 0.232 NA 3.833 1269 4 76996981 76996981 C T intronic ART3 NA NA NA intronic ENSG00000156219 NA NA NA NA NA 4q21.1 NA NA NA NA rs7693117 0.11 0.11 0.103 0.117812 0.0845 0.0516 0.183 0.2012 0.0613 0.08 0.06 0.17 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691321 NA NA 0.082652 0.193642 NA 0.167 NA 3.832848 1269 11 7847472 7847472 C T exonic OR5P3 NA synonymous SNV OR5P3:NM_153445:exon1:c.G48A:p.G16G exonic ENSG00000182334 NA synonymous SNV ENSG00000182334:ENST00000328375:exon1:c.G48A:p.G16G NA NA 11p15.4 NA NA NA NA rs1482793 0.47 0.47 0.411 0.44389 0.6292 0.4762 0.5937 0.0726 0.6155 0.64 0.49 0.59 0.1 0.5884 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027528 NA NA 0.616293 0.166667 NA 0.471 NA 3.8327736 1269 1 1647778 1647778 C G intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs72901773 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5007 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678137 NA NA NA NA NA 0.029 NA 3.8326333 1269 17 21217566 21217566 C T UTR3 MAP2K3 NM_145109:c.*24C>T,NM_002756:c.*24C>T NA NA UTR3 ENSG00000034152 ENST00000342679:c.*24C>T,ENST00000395491:c.*1052C>T,ENST00000496046:c.*494C>T,ENST00000361818:c.*24C>T,ENST00000316920:c.*24C>T NA NA NA NA 17p11.2 NA NA NA NA rs2363375 0.5 0.5 0.41 0.000599042 0.001 NA NA NA 0.002 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.89017 1.89017 NA NA NA NA 0.29 NA 3.8323334 1269 19 19638218 19638218 G A intronic NDUFA13 NA NA NA UTR3 ENSG00000186010 ENST00000511180:c.*53G>A NA NA NA NA 19p13.11 NA NA NA NA rs75525243 0.12 0.12 0.125 0.11901 0.171 NA 0.1167 0.1626 0.1309 0.15 NA 0.14 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083477 NA NA 0.163419 0.153179 NA 0.109 NA 3.8322477 1269 1 244747294 244747294 G A intronic C1orf101 NA NA NA intronic ENSG00000179397 NA NA NA NA NA 1q44 NA NA NA NA rs6429489 0.21 0.21 0.226 0.271965 0.0875 0.372 0.245 0.4206 0.1769 0.06 0.31 0.2 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220074 NA NA 0.080453 0.308526 NA 0.014 NA 3.832047 1269 16 720071 720071 G A intronic RHOT2 NA NA NA intronic ENSG00000140983 NA NA NA NA NA 16p13.3 NA NA NA NA rs62032482 0.17 0.17 0.149 0.184704 0.0805 0.2937 0.0562 0.2912 0.1268 0.07 0.29 0.05 0.28 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206078 NA NA 0.087462 0.237315 NA 0.13 NA 3.832038 1269 3 119721171 119721171 T C intronic GSK3B NA NA NA intronic ENSG00000082701 NA NA NA NA NA 3q13.33 NA NA NA NA rs12108149 0.29 0.29 0.29 0.307109 0.168 0.4702 0.1729 0.3661 0.2975 0.17 0.48 0.18 0.33 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144529 NA NA NA NA NA 0.225 NA 3.832 1269 10 6063319 6063319 C T intronic IL2RA NA NA NA intronic ENSG00000134460 NA NA NA NA NA 10p15.1 NA NA NA NA rs7093069 0.17 0.17 0.174 0.167931 0.168 0.1438 0.0965 0.2262 0.1646 0.17 0.15 0.11 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109255 NA NA NA NA NA 0.225 NA 3.832 1269 22 46795523 46795523 T C intronic CELSR1 NA NA NA intronic ENSG00000075275 NA NA NA NA NA 22q13.31 NA NA NA NA rs7290972 0.26 0.26 0.298 0.277556 0.168 0.0119 0.1455 0.7572 0.1094 0.17 0.01 0.16 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057965 NA NA NA NA NA 0.261 NA 3.832 1269 6 151766397 151766397 G A intronic RMND1 NA NA NA intronic ENSG00000155906 NA NA NA NA NA 6q25.1 NA NA NA NA rs73783025 0.1 0.1 0.097 0.11262 0.0487 0.1538 0.0447 0.1838 0.0879 0.05 0.14 0.04 0.17 0.0689 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443788 NA NA 0.05042 0.134659 NA 0.087 NA 3.83198 1269 16 56686380 56686380 T C intronic MT1B NA NA NA ncRNA_intronic ENSG00000259923 NA NA NA NA NA 16q12.2 NA NA NA NA rs2013775 0.38 0.38 0.355 0.38778 0.502 0.3185 0.402 0.2587 0.5061 0.51 0.3 0.43 0.24 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.665691 2.665691 NA NA NA NA 0.384 NA 3.8313333 1269 1 154407419 154407419 A C intronic IL6R NA NA NA intronic ENSG00000160712 NA NA NA NA NA 1q21.3 NA NA Name=12 NA rs7518199 0.35 0.35 0.323 0.327476 0.3678 0.3323 0.549 0.1944 0.3037 0.36 0.37 0.49 0.2 0.3899 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271378 NA NA 0.411005 0.22533 NA 0.37 NA 3.831295 1269 16 58577421 58577421 C T exonic CNOT1 NA synonymous SNV CNOT1:NM_206999:exon31:c.G4524A:p.A1508A exonic ENSG00000125107 NA synonymous SNV ENSG00000125107:ENST00000441024:exon31:c.G4524A:p.A1508A NA NA 16q21 NA NA NA NA rs41260 0.78 0.78 0.806 0.80631 0.5726 0.9712 0.7392 0.9062 0.7894 0.59 0.98 0.71 0.9 0.7121 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168506 NA NA 0.550888 0.848855 NA 0.754 NA 3.8310786 1269 1 146397300 146397300 G A intronic NBPF10 NA NA NA intronic ENSG00000186275 NA NA NA NA NA 1q21.1 NA NA NA NA rs7364664 NA NA NA 0.164137 0.169 0.1885 0.3314 0.056 0.1616 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582911 NA NA NA NA NA NA NA 3.831 1269 1 181708168 181708168 A G intronic CACNA1E NA NA NA intronic ENSG00000198216 NA NA NA NA NA 1q25.3 NA NA NA NA rs73045109 0.17 0.17 0.186 0.198482 0.169 0.0506 0.1542 0.3041 0.2699 0.17 0.04 0.16 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.00095 NA NA NA NA NA 0.138 NA 3.831 1269 4 39456635 39456635 T C intronic RPL9 NA NA NA intronic ENSG00000163682 NA NA NA NA NA 4p14 NA NA NA NA rs10025155 0.19 0.19 0.2 0.202077 0.169 0.1518 0.1787 0.329 0.1329 0.16 0.14 0.15 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122985 NA NA NA NA NA 0.232 NA 3.831 1269 9 119582761 119582761 A G intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs3765536 0.26 0.26 0.238 0.265375 0.169 0.4851 0.2464 0.1997 0.2403 0.17 0.47 0.22 0.19 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264379 NA NA NA NA NA 0.188 NA 3.831 1269 14 69392445 69392445 G A intronic ACTN1 NA NA NA intronic ENSG00000072110 NA NA NA NA NA 14q24.1 NA NA NA NA rs3742897 0.17 0.17 0.136 0.166733 0.169 0.2302 0.2738 0.0378 0.1973 0.17 0.21 0.25 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141969 NA NA NA NA NA 0.167 NA 3.831 1269 16 84449032 84449032 G T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs3743650 0.14 0.14 0.122 0.153355 0.169 0.0248 0.2075 0.1467 0.2403 0.17 0.03 0.22 0.17 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112805 NA NA NA NA NA 0.225 NA 3.831 1269 22 30188611 30188611 T C intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs9614057 0.08 0.08 0.076 0.0509185 0.169 NA 0.0865 0.0053 0.0184 0.17 NA 0.11 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22501 NA NA NA NA NA 0.029 NA 3.831 1269 7 123508309 123508309 G A UTR5 HYAL4 NM_012269:c.-19G>A NA NA UTR5 ENSG00000106302 ENST00000489978:c.-19G>A,ENST00000488323:c.-19G>A,ENST00000223026:c.-19G>A,ENST00000476325:c.-19G>A,ENST00000483878:c.-19G>A NA NA NA NA 7q31.32 NA NA NA NA rs1034955 0.13 0.13 0.126 0.124201 0.1789 0.002 0.0994 0.171 0.1483 0.18 0.0035 0.1 0.23 0.1529 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113421 NA NA 0.170621 0.18733 NA 0.101 NA 3.8309124 1269 15 78834476 78834476 A G intronic PSMA4 NA NA NA intronic ENSG00000041357 NA NA NA NA NA 15q25.1 NA NA NA NA rs41280046 0.03 0.03 0.032 0.023762 0.0716 NA 0.0418 0.0015 0.0164 0.07 NA 0.04 NA 0.0399 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821193 NA NA 0.057652 0.014117 NA 0.022 NA 3.830848 1269 10 7866269 7866269 A G intronic TAF3 NA NA NA intronic ENSG00000165632 NA NA NA NA NA 10p14 NA NA NA NA rs114054696 0.12 0.12 NA 0.184105 0.169 0.0675 0.1124 0.2141 0.3303 0.14 0.06 0.11 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.620536 NA NA 0.000367 0.000549 NA NA NA 3.830633 1269 16 5106184 5106184 C T exonic C16orf89 NA synonymous SNV C16orf89:NM_001098514:exon5:c.G633A:p.G211G,C16orf89:NM_152459:exon5:c.G633A:p.G211G exonic ENSG00000153446 NA synonymous SNV ENSG00000153446:ENST00000315997:exon5:c.G633A:p.G211G,ENSG00000153446:ENST00000350219:exon5:c.G747A:p.G249G,ENSG00000153446:ENST00000422873:exon5:c.G747A:p.G249G,ENSG00000153446:ENST00000472572:exon5:c.G633A:p.G211G,ENSG00000153446:ENST00000474471:exon5:c.G633A:p.G211G NA NA 16p13.3 NA NA NA NA rs741164 0.56 0.56 0.544 0.522963 0.6292 0.5665 0.6398 0.3971 0.456 0.64 0.58 0.61 0.4 0.5848 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11186 NA NA 0.622183 0.461251 NA 0.63 NA 3.8304836 1269 3 145809750 145809750 T C intronic PLOD2 NA NA NA ncRNA_intronic ENSG00000243415 NA NA NA NA NA 3q24 NA NA NA NA rs3792341 0.52 0.52 0.519 0.511182 0.503 0.5754 0.4769 0.5356 0.4448 0.5 0.56 0.49 0.53 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065898 NA NA NA NA NA 0.478 NA 3.8303333 1269 2 84800605 84800605 C A exonic DNAH6 NA synonymous SNV DNAH6:NM_001370:exon12:c.C1818A:p.A606A exonic ENSG00000115423 NA synonymous SNV ENSG00000115423:ENST00000237449:exon11:c.C1818A:p.A606A,ENSG00000115423:ENST00000389394:exon12:c.C1818A:p.A606A,ENSG00000115423:ENST00000398278:exon12:c.C1818A:p.A606A Score=441;Name=lod=83 NA 2p11.2 NA NA NA NA rs11891970 0.94 0.94 0.943 0.929712 0.9453 0.997 0.9625 0.8313 0.954 0.96 1 0.96 0.85 0.9465 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847264 NA NA 0.944535 0.839083 NA 0.92 NA 3.8303316 1269 15 81660718 81660718 A G intronic TMC3 NA NA NA intronic ENSG00000188869 NA NA NA NA NA 15q25.1 NA NA NA NA rs7162538 0.08 0.08 0.081 0.0750799 0.0467 0.0694 0.0447 0.1233 0.0665 0.04 0.08 0.05 0.14 0.0628 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161946 NA NA 0.060169 0.095952 NA 0.08 NA 3.830331 1269 1 881627 881627 G A exonic NOC2L NA synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L exonic ENSG00000188976 NA synonymous SNV ENSG00000188976:ENST00000327044:exon16:c.C1843T:p.L615L NA NA 1p36.33 NA NA NA NA rs2272757 0.47 0.47 0.441 0.441893 0.6332 0.624 0.438 0.0643 0.5706 0.63 0.61 0.46 0.08 0.5653 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95413 NA NA 0.637907 0.156222 ID=COSM1344685;OCCURENCE=1(large_intestine) 0.478 NA 3.8302596 1269 2 158140717 158140717 C T intronic GALNT5 NA NA NA intronic ENSG00000136542 NA NA NA NA NA 2q24.1 NA NA NA NA rs2289942 0.29 0.29 0.291 0.279952 0.17 0.4752 0.2392 0.3245 0.1605 0.18 0.46 0.2 0.31 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068431 NA NA NA NA NA 0.297 NA 3.83 1269 3 124538764 124538764 C A intronic ITGB5 NA NA NA intronic ENSG00000082781 NA NA NA NA NA 3q21.2 NA NA NA NA rs12490538 0.18 0.18 0.165 0.174521 0.17 0.1815 0.2651 0.1241 0.1759 0.16 0.19 0.26 0.12 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.873595 1.873595 NA NA NA NA 0.116 NA 3.83 1269 5 78265092 78265092 C T intronic ARSB NA NA NA intronic ENSG00000113273 NA NA NA NA NA 5q14.1 NA NA NA NA rs918581 0.13 0.13 0.125 0.152955 0.17 0.0823 0.147 0.1528 0.2127 0.18 0.05 0.14 0.15 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679328 NA NA NA NA NA 0.13 NA 3.83 1269 6 33232025 33232025 C T intronic VPS52 NA NA NA intronic ENSG00000223501 NA NA NA NA NA 6p21.32 NA NA NA NA rs460568 0.18 0.18 0.182 0.214856 0.17 0.1339 0.1715 0.3207 0.2321 0.16 0.13 0.16 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809481 NA NA NA NA NA 0.188 NA 3.83 1269 11 63962152 63962152 T C intronic STIP1 NA NA NA intronic ENSG00000168439 NA NA NA NA NA 11q13.1 NA NA NA NA rs2282490 0.17 0.17 0.148 0.152157 0.17 0.1736 0.3228 0.0908 0.0736 0.17 0.17 0.29 0.08 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375575 NA NA NA NA NA 0.116 NA 3.83 1269 11 63962162 63962162 G A intronic STIP1 NA NA NA intronic ENSG00000168439 NA NA NA NA NA 11q13.1 NA NA NA NA rs67546972 0.17 0.17 0.149 0.152556 0.17 0.1736 0.3242 0.0915 0.0736 0.17 0.17 0.29 0.08 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196273 NA NA NA NA NA 0.116 NA 3.83 1269 15 31087604 31087604 A G intergenic LOC100288637,HERC2P10 dist=22395;dist=22635 NA NA ncRNA_intronic ENSG00000103832 NA NA NA NA NA 15q13.2 NA NA NA NA rs71399732 0.12 0.12 0.097 0.144369 0.17 0.0198 0.1009 0.2216 0.1728 0.16 0.02 0.11 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659628 NA NA NA NA NA 0.072 NA 3.83 1269 7 156468377 156468377 G C intronic RNF32 NA NA NA ncRNA_intronic ENSG00000225666 NA NA NA NA NA 7q36.3 NA NA NA NA rs2886380 0.45 0.45 0.283 NA NA NA NA NA NA 0.32 0.51 0.35 0.68 0.3853 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.21647 NA NA 0.118256 0.560599 NA 0.116 NA 3.8297773 1269 9 5467801 5467801 C T intronic CD274 NA NA NA intronic ENSG00000120217 NA NA NA NA NA 9p24.1 NA NA NA NA rs41303227 0.02 0.02 0.019 0.0289537 0.0596 NA 0.0159 0.0121 0.0593 0.06 NA 0.02 0.0041 0.0512 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294125 NA NA 0.059535 0.018838 NA 0.036 NA 3.829665 1269 12 108104317 108104317 C G intronic PWP1 NA NA NA intronic ENSG00000136045 NA NA NA NA NA 12q23.3 NA NA NA NA rs74977517 0.03 0.03 0.018 0.0223642 0.0636 NA 0.0375 0.0023 0.0194 0.07 NA 0.04 0.01 0.0454 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.101993 NA NA 0.061395 0.011802 NA 0.036 NA 3.829605 1269 10 71648002 71648002 C T intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA NA NA 10q22.1 NA NA NA NA rs41277956 0.05 0.05 0.05 0.0457268 0.0865 0.0615 0.0331 0.0091 0.046 0.09 0.06 0.03 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.519486 1.519486 NA 0.083909 0.010838 NA 0.029 NA 3.829591 1269 20 50305595 50305595 C T intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6512744 0.08 0.08 0.101 0.0834665 0.0606 NA 0.0331 0.2247 0.0378 0.07 NA 0.04 0.24 0.0556 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.452094 NA NA 0.054302 0.199728 NA 0.094 NA 3.829498 1269 19 12939792 12939792 T C intronic RTBDN NA NA NA exonic ENSG00000132026 NA nonsynonymous SNV ENSG00000132026:ENST00000585384:exon3:c.A220G:p.S74G,ENSG00000132026:ENST00000587549:exon4:c.A316G:p.S106G NA NA 19p13.2 NA NA NA NA rs1466306 0.72 0.72 0.741 NA NA NA NA NA NA 0.6 0.78 0.72 0.85 0.7018 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222433 NA NA 0.635465 0.840899 NA 0.768 NA 3.8294017 1269 1 3424508 3424508 G A intronic MEGF6 NA NA NA intronic ENSG00000162591 NA NA NA NA NA 1p36.32 NA NA NA NA rs41315296 0.05 0.05 0.054 0.0593051 0.0507 0.1032 0.0504 0.0076 0.0992 0.05 0.09 0.06 0.01 0.0608 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994447 NA NA 0.059398 0.011776 NA 0.065 NA 3.829102 1269 1 147314153 147314153 A G intergenic GJA5,GJA8 dist=68669;dist=60793 NA NA ncRNA_exonic ENSG00000223728 NA NA NA NA NA 1q21.2 NA NA NA NA rs10900400 0.18 0.18 0.154 0.155152 0.171 0.248 0.2089 0.115 0.0593 0.17 0.24 0.21 0.09 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25384 NA NA NA NA NA 0.188 NA 3.829 1269 5 82264820 82264820 G A intergenic MIR3977,TMEM167A dist=128777;dist=83845 NA NA ncRNA_exonic ENSG00000248400 NA NA NA NA NA 5q14.2 NA NA NA NA rs154231 0.37 0.37 0.341 0.341254 0.171 0.5774 0.3415 0.4327 0.1493 0.16 0.57 0.39 0.43 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363132 NA NA NA NA NA 0.246 NA 3.829 1269 18 11644364 11644364 G A intergenic PIEZO2,GNAL dist=495603;dist=44650 NA NA ncRNA_exonic ENSG00000267773 NA NA NA NA NA 18p11.21 NA NA NA NA rs111474526 0.12 0.12 0.082 0.109625 0.171 0.0853 0.1182 0.0772 0.1094 0.17 0.09 0.14 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354369 NA NA NA NA NA 0.101 NA 3.829 1269 1 109839896 109839896 C T intronic MYBPHL NA NA NA intronic ENSG00000221986 NA NA NA NA NA 1p13.3 NA NA NA NA rs7515901 0.22 0.22 0.227 0.235024 0.171 0.124 0.1037 0.4705 0.1902 0.18 0.1 0.12 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620966 NA NA NA NA NA 0.203 NA 3.829 1269 2 120776988 120776988 A G intronic EPB41L5 NA NA NA intronic ENSG00000115109 NA NA NA NA NA 2q14.2 NA NA NA NA rs17669093 0.1 0.1 0.094 0.0808706 0.171 0.0387 0.0908 0.0113 0.1186 0.18 0.05 0.12 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095817 NA NA NA NA NA 0.072 NA 3.829 1269 5 176320106 176320106 G C intronic HK3 NA NA NA intronic ENSG00000160883 NA NA NA NA NA 5q35.2 NA NA NA NA rs12519232 0.12 0.12 0.108 0.0998403 0.171 0.1359 0.1037 0.0189 0.0961 0.18 0.13 0.13 0.03 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619844 NA NA NA NA NA 0.174 NA 3.829 1269 12 45173858 45173858 T A intronic NELL2 NA NA NA intronic ENSG00000184613 NA NA NA NA NA 12q12 NA NA NA NA rs1122352 0.24 0.24 0.234 0.251797 0.171 0.2599 0.2709 0.2693 0.2894 0.18 0.25 0.27 0.3 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787749 NA NA NA NA NA 0.333 NA 3.829 1269 12 45173884 45173884 G A intronic NELL2 NA NA NA intronic ENSG00000184613 NA NA NA NA NA 12q12 NA NA NA NA rs1122351 0.19 0.19 0.169 0.208666 0.171 0.2143 0.2608 0.1536 0.2791 0.18 0.2 0.25 0.15 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526118 NA NA NA NA NA 0.225 NA 3.829 1269 15 41482013 41482013 A G intronic EXD1 NA NA NA intronic ENSG00000178997 NA NA NA NA NA 15q15.1 NA NA NA NA rs8039014 0.3 0.3 0.315 0.341454 0.171 0.2788 0.2161 0.5817 0.3456 0.15 0.3 0.22 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027379 NA NA NA NA NA 0.348 NA 3.829 1269 17 73316679 73316679 G C intronic GRB2 NA NA NA intronic ENSG00000177885 NA NA NA NA NA 17q25.1 NA Name=Pol2 Name=58 NA rs8079197 0.63 0.63 0.585 0.558107 0.7376 0.8274 0.6888 0.0961 0.6278 0.74 0.9 0.66 0.1 0.6965 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162056 NA NA 0.737209 0.208864 NA 0.486 NA 3.828691 1269 6 30899577 30899577 G A intronic SFTA2 NA NA NA intronic ENSG00000196260 NA NA NA NA NA 6p21.33 NA NA NA NA rs17196074 0.05 0.05 0.041 0.0339457 0.0577 0.003 0.0375 0.0552 0.0102 0.06 0.01 0.04 0.08 0.0518 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815188 NA NA 0.062016 0.049338 NA 0.007 NA 3.828484 1269 17 2203453 2203453 A G exonic SMG6 NA synonymous SNV SMG6:NM_017575:exon2:c.T594C:p.A198A exonic ENSG00000070366 NA synonymous SNV ENSG00000070366:ENST00000263073:exon2:c.T594C:p.A198A,ENSG00000070366:ENST00000544865:exon2:c.T501C:p.A167A NA NA 17p13.3 NA NA NA NA rs216193 0.59 0.59 0.56 0.544529 0.6133 0.6806 0.6282 0.3487 0.5389 0.61 0.74 0.62 0.36 0.6012 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.87117 NA NA 0.623721 0.414208 NA 0.529 NA 3.8284456 1269 12 118020037 118020037 C A intronic KSR2 NA NA NA intronic ENSG00000171435 NA NA NA NA NA 12q24.22 NA NA NA NA rs1875142 0.07 0.07 0.059 0.0694888 0.0924 0.0258 0.0706 0.1021 0.046 0.09 0.02 0.08 0.09 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.446874 2.446874 NA 0.079195 0.100434 NA 0.138 NA 3.828405 1269 14 64556271 64556271 T C intronic SYNE2 NA NA NA intronic ENSG00000054654,ENSG00000140009 NA NA NA NA NA 14q23.2 NA NA NA NA rs72720312 0.09 0.09 0.086 0.0924521 0.0467 0.0853 0.049 0.1876 0.0491 0.05 0.08 0.05 0.2 0.0701 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826628 NA NA 0.054957 0.144095 NA 0.101 NA 3.828243 1269 20 53260140 53260140 C T intronic DOK5 NA NA NA intronic ENSG00000101134 NA NA NA NA NA 20q13.2 NA NA NA NA rs41274718 0.03 0.03 0.023 0.0209665 0.0666 NA 0.049 0.0008 0.0031 0.06 NA 0.06 NA 0.0452 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630149 NA NA 0.060116 0.01271 NA 0.065 NA 3.828084 1269 3 125649288 125649288 G A intronic ALG1L NA NA NA intronic ENSG00000189366 NA NA NA NA NA 3q21.2 NA NA NA NA rs7616019 0.22 0.22 0.161 0.233826 0.172 0.1071 0.1527 0.4841 0.1472 0.17 0.1 0.17 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791401 NA NA NA NA NA 0.007 NA 3.828 1269 5 7875307 7875307 C G intronic MTRR NA NA NA intronic ENSG00000124275 NA NA NA NA NA 5p15.31 NA NA NA NA rs2303079 0.22 0.22 0.215 0.245807 0.172 0.1518 0.3429 0.3669 0.1861 0.17 0.17 0.29 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464087 NA NA NA NA NA 0.29 NA 3.828 1269 7 75803132 75803132 C T intergenic MDH2,SRRM3 dist=107202;dist=28084 NA NA ncRNA_intronic ENSG00000228829 NA NA NA NA NA 7q11.23 NA NA NA NA rs4728587 0.19 0.19 0.153 0.185903 0.172 0.2619 0.2161 0.1377 0.1656 0.17 0.28 0.21 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766964 NA NA NA NA NA 0.094 NA 3.828 1269 9 8320065 8320065 G A intronic PTPRD NA NA NA intronic ENSG00000153707 NA NA NA NA NA 9p24.1 NA NA NA NA rs3739578 0.24 0.24 0.187 0.273363 0.172 0.3869 0.3228 0.1278 0.4223 0.17 0.39 0.32 0.12 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634877 NA NA NA NA NA 0.174 NA 3.828 1269 15 43252764 43252764 A G intronic UBR1 NA NA NA intronic ENSG00000159459 NA NA NA NA NA 15q15.2 NA NA NA NA rs3759792 0.21 0.21 0.222 0.255391 0.172 0.1498 0.134 0.4198 0.3139 0.18 0.15 0.14 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833675 NA NA NA NA NA 0.217 NA 3.828 1269 6 30890789 30890789 G A intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs3873330 0.05 0.05 0.039 0.0341454 0.0577 0.003 0.0375 0.056 0.0102 0.06 0.01 0.04 0.08 0.0525 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976591 NA NA 0.062061 0.049636 NA 0.007 NA 3.827739 1269 11 7847208 7847208 T C exonic OR5P3 NA synonymous SNV OR5P3:NM_153445:exon1:c.A312G:p.V104V exonic ENSG00000182334 NA synonymous SNV ENSG00000182334:ENST00000328375:exon1:c.A312G:p.V104V NA NA 11p15.4 NA NA NA NA rs1482791 0.47 0.47 0.437 0.44349 0.6292 0.4762 0.5937 0.0711 0.6155 0.64 0.49 0.59 0.1 0.58 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203653 NA NA 0.629888 0.169488 NA 0.471 NA 3.8275786 1269 11 5079946 5079946 C T exonic OR52E2 NA synonymous SNV OR52E2:NM_001005164:exon1:c.G912A:p.V304V exonic ENSG00000176787 NA synonymous SNV ENSG00000176787:ENST00000321522:exon1:c.G912A:p.V304V Score=251;Name=lod=14 NA 11p15.4 NA NA NA NA rs2445332 0.9 0.9 0.888 0.901158 0.9414 0.7708 0.9524 0.8956 0.9652 0.94 0.77 0.96 0.93 0.9361 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.661459 NA NA 0.961726 0.893458 NA 0.92 NA 3.8274406 1269 7 100416250 100416250 A G exonic EPHB4 NA synonymous SNV EPHB4:NM_004444:exon7:c.T1314C:p.S438S exonic ENSG00000196411 NA synonymous SNV ENSG00000196411:ENST00000358173:exon7:c.T1314C:p.S438S,ENSG00000196411:ENST00000360620:exon7:c.T1314C:p.S438S NA NA 7q22.1 NA NA NA NA rs144173 0.58 0.58 0.567 0.563698 0.6282 0.6399 0.6671 0.407 0.5573 0.62 0.63 0.61 0.46 0.6059 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.592992 NA NA 0.605349 0.457558 NA 0.674 NA 3.8272176 1269 19 1399476 1399476 T C intronic GAMT NA NA NA intronic ENSG00000130005 NA NA NA NA NA 19p13.3 NA NA NA NA rs73515058 0.06 0.06 0.086 0.0864617 0.0527 0.0159 0.0331 0.1672 0.1227 0.06 0.02 0.04 0.15 0.0685 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330582 NA NA 0.051676 0.150591 NA 0.072 NA 3.827124 1269 6 110059510 110059510 C A intronic FIG4 NA NA NA intronic ENSG00000112367 NA NA NA NA NA 6q21 NA NA Name=10 NA rs2273752 0.35 0.35 0.312 0.338059 0.3986 0.3482 0.4035 0.1437 0.4816 0.4 0.41 0.4 0.15 0.3844 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.247592 1.247592 NA 0.389974 0.180663 NA 0.304 NA 3.827026 1269 2 89231382 89231382 G A intergenic MIR4436A,NONE dist=119414;dist=NONE NA NA ncRNA_exonic ENSG00000253435 NA NA NA NA NA 2p11.2 NA NA NA NA rs12614252 0.27 0.27 0.237 0.274561 0.173 0.4048 0.2839 0.205 0.3323 0.17 0.49 0.25 0.2 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074213 NA NA NA NA NA 0.138 NA 3.827 1269 3 11951282 11951282 A C intergenic TAMM41,SYN2 dist=62930;dist=94580 NA NA ncRNA_exonic ENSG00000251038 NA NA NA NA NA 3p25.2 NA NA NA NA rs9855914 0.3 0.3 0.288 0.323083 0.173 0.2381 0.1758 0.7065 0.1513 0.18 0.19 0.2 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225652 NA NA NA NA NA 0.283 NA 3.827 1269 7 45753239 45753239 A G intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs2293107 0.14 0.14 0.135 0.1248 0.173 0.121 0.1052 0.1657 0.0378 0.17 0.1 0.13 0.14 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395081 NA NA NA NA NA 0.232 NA 3.827 1269 9 37781891 37781891 C T intronic EXOSC3 NA NA NA intronic ENSG00000107371,ENSG00000255872 NA NA NA NA NA 9p13.2 NA NA NA NA rs2296551 0.19 0.19 0.194 0.192492 0.173 0.0903 0.1758 0.382 0.0736 0.17 0.09 0.17 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.723237 NA NA NA NA NA 0.145 NA 3.827 1269 10 81318565 81318565 C T intronic SFTPA2 NA NA NA intronic ENSG00000185303 NA NA NA NA NA 10q22.3 NA NA NA NA rs17882088 0.12 0.12 0.113 0.135184 0.173 0.0585 0.1945 0.0257 0.2812 0.19 0.07 0.21 0.03 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460301 NA NA NA NA NA 0.058 NA 3.827 1269 11 102822649 102822649 T C intronic MMP13 NA NA NA intronic ENSG00000137745 NA NA NA NA NA 11q22.2 NA NA NA NA rs11225490 0.18 0.18 0.19 0.214457 0.173 0.2232 0.1239 0.1876 0.3487 0.17 0.21 0.13 0.2 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014231 NA NA NA NA NA 0.217 NA 3.827 1269 12 27143632 27143632 C T intronic TM7SF3 NA NA NA intronic ENSG00000064115 NA NA NA NA NA 12p11.23 NA NA NA NA rs35719635 0.27 0.27 0.273 0.294728 0.173 0.4117 0.2205 0.3275 0.3078 0.18 0.4 0.21 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255431 NA NA NA NA NA 0.232 NA 3.827 1269 13 37369136 37369136 A T intergenic SERTM1,RFXAP dist=97161;dist=24203 NA NA ncRNA_exonic ENSG00000215486 NA NA NA NA NA 13q13.3 NA NA NA NA rs3934269 0.37 0.37 0.369 0.38738 0.173 0.5427 0.2925 0.5613 0.2802 0.16 0.53 0.25 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.209557 NA NA NA NA NA 0.348 NA 3.827 1269 18 45157181 45157181 T C intergenic IER3IP1,SMAD2 dist=454436;dist=202285 NA NA ncRNA_exonic ENSG00000267156 NA NA NA NA NA 18q21.1 NA NA NA NA rs3813071 0.17 0.17 0.152 0.161741 0.173 0.256 0.17 0.0363 0.2168 0.19 0.28 0.15 0.02 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460066 NA NA NA NA NA 0.065 NA 3.827 1269 19 20408775 20408775 T G intergenic ZNF486,MIR1270-1 dist=97476;dist=101306 NA NA ncRNA_intronic ENSG00000267383,ENSG00000269274 NA NA NA NA NA 19p12 NA NA NA NA rs11671050 0.26 0.26 0.248 0.252196 0.173 0.4613 0.3012 0.1324 0.2454 0.17 0.5 0.26 0.11 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639636 NA NA NA NA NA 0.217 NA 3.827 1269 19 11313256 11313256 G A intronic DOCK6 NA NA NA intronic ENSG00000130158 NA NA NA NA NA 19p13.2 Score=698;Name=V$BRACH_01 NA NA NA rs3745682 0.35 0.35 0.309 0.360623 0.3887 0.37 0.4063 0.2216 0.4775 0.39 0.37 0.39 0.23 0.3929 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518136 NA NA 0.391722 0.237296 NA 0.217 NA 3.826678 1269 14 90813429 90813429 T C intergenic NRDE2,CALM1 dist=14948;dist=49898 NA NA intergenic ENSG00000119720,ENSG00000242571 dist=14948;dist=19612 NA NA Score=272;Name=lod=17 NA 14q32.11 NA NA NA NA rs2149652 0.56 0.56 0.526 0.528954 0.507 0.7817 0.4366 0.4312 0.4888 0.51 0.78 0.49 0.41 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659816 NA NA NA NA NA 0.471 NA 3.8263334 1269 2 85489297 85489297 T A intronic TCF7L1 NA NA NA ncRNA_exonic ENSG00000230299 NA NA NA NA NA 2p11.2 NA NA NA NA rs11686410 0.38 0.38 0.37 0.341054 0.507 0.2907 0.3429 0.2738 0.3119 0.5 0.29 0.38 0.29 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.62652 NA NA NA NA NA 0.37 NA 3.8263333 1269 19 49538738 49538738 G C downstream CGB1 NA NA NA intronic ENSG00000267335 NA NA NA NA NA 19q13.33 NA NA NA NA rs184313106 0.01 0.01 NA 0.013778 0.007 NA 0.0807 NA 0.0061 0.01 NA 0.03 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595076 NA NA NA NA NA NA NA 3.8263333 1269 20 44197087 44197087 G A intronic WFDC8 NA NA NA ncRNA_exonic ENSG00000230860 NA NA NA NA NA 20q13.12 NA NA NA NA rs6065836 0.46 0.46 0.442 0.478235 0.507 0.3403 0.4582 0.5976 0.4438 0.5 0.3 0.48 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287807 NA NA NA NA NA 0.623 NA 3.8263333 1269 14 22236771 22236771 C T intergenic OR4E2,DAD1 dist=102533;dist=797036 NA NA exonic ENSG00000211780 NA synonymous SNV ENSG00000211780:ENST00000390428:exon1:c.C36T:p.F12F NA NA 14q11.2 NA NA NA NA rs11623408 0.17 0.17 0.162 0.155152 0.2406 0.1171 0.1455 0.1172 0.1646 0.23 0.12 0.17 0.14 0.1942 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050949 NA NA 0.238914 0.148571 NA 0.225 NA 3.826286 1269 18 77470451 77470451 G A intronic CTDP1 NA NA NA intronic ENSG00000060069 NA NA NA NA NA 18q23 NA NA NA NA rs62097743 0.03 0.03 0.013 0.0179712 0.0696 0.001 0.0187 0.0008 0.0051 0.07 NA 0.01 NA 0.0439 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666827 NA NA 0.060465 0.013391 NA 0.051 NA 3.826035 1269 3 147884168 147884168 G A intergenic ZIC1,AGTR1 dist=749662;dist=531490 NA NA ncRNA_exonic ENSG00000205412 NA NA NA NA NA 3q24 NA NA NA NA rs12495960 0.15 0.15 0.127 0.13139 0.174 0.1042 0.1916 0.0938 0.1237 0.18 0.1 0.22 0.1 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98877 NA NA NA NA NA 0.109 NA 3.826 1269 4 155249431 155249431 T C intronic DCHS2 NA NA NA intronic ENSG00000197410 NA NA NA NA NA 4q31.3 NA NA NA NA rs1472070 0.13 0.13 0.11 0.154752 0.174 0.1538 0.1066 0.1067 0.2352 0.16 0.13 0.14 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416185 NA NA NA NA NA 0.094 NA 3.826 1269 5 119016068 119016068 G A intergenic FAM170A,PRR16 dist=44551;dist=783951 NA NA ncRNA_exonic ENSG00000234259 NA NA NA NA NA 5q23.1 NA NA NA NA rs55734016 0.13 0.13 0.124 0.138978 0.174 0.0804 0.1138 0.1112 0.2188 0.18 0.07 0.13 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29283 NA 0.75 NA NA NA 0.101 NA 3.826 1269 6 125621618 125621618 A G intronic HDDC2 NA NA NA intronic ENSG00000111906 NA NA NA NA NA 6q22.31 NA NA NA NA rs2243390 0.28 0.28 0.317 0.283147 0.174 0.1429 0.2305 0.6505 0.0808 0.16 0.13 0.25 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.930976 NA NA NA NA NA 0.261 NA 3.826 1269 10 60150445 60150445 A G intronic TFAM NA NA NA intronic ENSG00000108064 NA NA NA NA NA 10q21.1 NA NA NA NA rs11006130 0.12 0.12 0.101 0.108027 0.174 0.001 0.1239 0.1702 0.0552 0.18 0.0017 0.17 0.13 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.95342 NA NA NA NA NA 0.109 NA 3.826 1269 11 117232492 117232492 C T intronic CEP164 NA NA NA intronic ENSG00000110274 NA NA NA NA NA 11q23.3 NA NA NA NA rs2305825 0.19 0.19 0.201 0.210064 0.174 0.1161 0.2594 0.2587 0.2434 0.16 0.11 0.26 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.366068 NA NA NA NA NA 0.188 NA 3.826 1269 17 16520433 16520433 C G intergenic ZNF287,ZNF624 dist=47913;dist=3615 NA NA ncRNA_exonic ENSG00000235554 NA NA NA NA NA 17p11.2 NA NA NA NA rs4792757 0.27 0.27 0.224 0.249002 0.174 0.3333 0.2233 0.3525 0.1176 0.17 0.36 0.19 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.701706 1.701706 NA NA NA NA 0.196 NA 3.826 1269 17 16552913 16552913 C A intronic ZNF624 NA NA NA intronic ENSG00000197566 NA NA NA NA NA 17p11.2 NA NA NA NA rs28626982 0.27 0.27 0.267 0.251797 0.174 0.3333 0.2233 0.3631 0.1176 0.17 0.36 0.19 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946664 NA NA NA NA NA 0.196 NA 3.826 1269 17 78114033 78114033 G A intronic EIF4A3 NA NA NA intronic ENSG00000141543 NA NA NA NA NA 17q25.3 NA NA NA NA rs74003638 0.11 0.11 0.098 0.107228 0.174 0.0466 0.0908 0.0779 0.1524 0.18 0.05 0.08 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036696 NA NA NA NA NA 0.08 NA 3.826 1269 19 8660890 8660890 G A intronic ADAMTS10 NA NA NA intronic ENSG00000142303 NA NA NA NA NA 19p13.2 NA NA NA NA rs28433973 0.11 0.11 0.111 0.127196 0.174 NA 0.0994 0.1415 0.2106 0.19 NA 0.09 0.15 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.579119 NA NA NA NA NA 0.08 NA 3.826 1269 19 10673302 10673302 C A intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA NA NA NA rs35523350 0.15 0.15 0.118 0.168331 0.174 0.1657 0.2968 0.0711 0.2055 0.16 0.14 0.25 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627038 NA NA NA NA NA 0.13 NA 3.826 1269 19 19770329 19770329 T C intronic ATP13A1 NA NA NA intronic ENSG00000105726 NA NA NA NA NA 19p13.11 NA NA NA NA rs10403579 0.09 0.09 0.097 0.0874601 0.174 NA 0.1081 0.0537 0.1196 0.16 NA 0.14 0.07 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421809 NA NA NA NA NA 0.101 NA 3.826 1269 20 47317529 47317529 C T intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA NA NA NA rs12479966 0.14 0.14 0.12 0.152356 0.174 0.1498 0.2406 0.0189 0.2505 0.16 0.15 0.23 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906586 NA NA NA NA NA 0.138 NA 3.826 1269 21 43557430 43557430 G A intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs55819032 0.18 0.18 0.174 0.218051 0.174 0.253 0.2435 0.1452 0.3078 0.17 0.23 0.2 0.12 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222204 NA NA NA NA NA 0.203 NA 3.826 1269 21 43557445 43557445 C T intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs3819139 0.18 0.18 0.171 0.215056 0.174 0.253 0.2435 0.1339 0.3078 0.17 0.23 0.2 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26665 NA NA NA NA NA 0.203 NA 3.826 1269 14 22237187 22237187 C T intergenic OR4E2,DAD1 dist=102949;dist=796620 NA NA exonic ENSG00000211780 NA synonymous SNV ENSG00000211780:ENST00000390428:exon2:c.C264T:p.L88L NA NA 14q11.2 NA NA NA NA rs4329837 0.17 0.17 0.164 0.154752 0.2406 0.1171 0.1455 0.1172 0.1626 0.23 0.12 0.17 0.14 0.1941 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903368 NA NA 0.239457 0.148925 NA 0.225 NA 3.825843 1269 2 174229731 174229731 A G intronic CDCA7 NA NA NA intronic ENSG00000144354 NA NA NA NA NA 2q31.1 NA NA NA NA rs13382180 0.17 0.17 0.162 0.209864 0.0298 0.3036 0.1081 0.2821 0.273 0.04 0.31 0.11 0.27 0.1093 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002707 NA NA 0.035306 0.209736 NA 0.174 NA 3.825594 1269 17 53844647 53844647 C T intronic PCTP NA NA NA intronic ENSG00000141179 NA NA NA NA NA 17q22 NA NA NA NA rs16956397 0.06 0.06 0.056 0.0565096 0.0547 0.0704 0.0865 0.0575 0.0215 0.06 0.06 0.07 0.07 0.057 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.746557 2.746557 NA 0.062791 0.062869 NA 0.043 NA 3.825509 1269 1 9627521 9627521 A G intronic SLC25A33 NA NA NA intronic ENSG00000171612 NA NA NA NA NA 1p36.22 NA NA NA NA rs6698575 0.27 0.27 0.275 0.278155 0.175 0.3115 0.1671 0.4592 0.184 0.18 0.3 0.17 0.46 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.032429 2.032429 NA NA NA NA 0.478 NA 3.825 1269 1 16376494 16376494 C G intronic CLCNKB NA NA NA intronic ENSG00000184908 NA NA NA NA NA 1p36.13 NA NA NA NA rs72651918 0.16 0.16 0.117 0.166933 0.175 0.2907 0.1484 0.0575 0.1922 0.17 0.25 0.13 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270694 NA NA NA NA NA 0.08 NA 3.825 1269 4 69332537 69332537 G A intronic TMPRSS11E NA NA NA intronic ENSG00000087128 NA NA NA NA NA 4q13.2 NA NA NA NA rs2278922 0.14 0.14 0.108 0.142572 0.175 0.0863 0.304 0.0598 0.1646 0.18 0.08 0.27 0.06 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108545 NA NA NA NA NA 0.08 NA 3.825 1269 5 146722890 146722890 C T intronic STK32A NA NA NA intronic ENSG00000169302 NA NA NA NA NA 5q32 NA NA NA NA rs6884181 0.31 0.31 0.33 0.336062 0.175 0.2579 0.281 0.6611 0.182 0.17 0.23 0.26 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589603 NA NA NA NA NA 0.428 NA 3.825 1269 7 45743538 45743538 C G intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs55969720 0.16 0.16 0.182 0.153754 0.175 0.121 0.1196 0.2663 0.0378 0.17 0.1 0.14 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247478 NA NA NA NA NA 0.268 NA 3.825 1269 7 45744055 45744055 C T intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs2272036 0.16 0.16 0.185 0.169928 0.175 0.121 0.1254 0.3245 0.0378 0.17 0.1 0.15 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795145 NA NA NA NA NA 0.283 NA 3.825 1269 8 62465795 62465795 T C intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs4291265 0.34 0.34 0.339 0.343051 0.175 0.3591 0.2205 0.6694 0.1452 0.16 0.38 0.2 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945308 NA NA NA NA NA 0.29 NA 3.825 1269 18 56182145 56182145 A G intronic ALPK2 NA NA NA intronic ENSG00000198796 NA NA NA NA NA 18q21.31 NA NA NA NA rs59425126 0.11 0.11 0.118 0.11222 0.175 0.0228 0.0893 0.143 0.1145 0.18 0.03 0.09 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531102 NA NA NA NA NA 0.022 NA 3.825 1269 19 6937172 6937172 C A intronic EMR1 NA NA NA intronic ENSG00000174837 NA NA NA NA NA 19p13.2 NA NA NA NA rs12981770 0.13 0.13 0.114 0.10603 0.175 0.002 0.2133 0.0953 0.0808 0.18 0.02 0.21 0.12 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305758 NA NA NA NA NA 0.101 NA 3.825 1270 15 54847726 54847726 T C intronic UNC13C NA NA NA intronic ENSG00000137766 NA NA NA NA NA 15q21.3 NA NA NA NA rs62022212 0.06 0.06 0.03 0.0589058 0.0567 0.0228 0.1801 0.0287 0.0532 0.06 0.02 0.13 0.03 0.0712 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200728 NA NA 0.047509 0.033809 NA NA NA 3.824591 1270 10 117278891 117278891 C T intronic ATRNL1 NA NA NA intronic ENSG00000107518 NA NA NA NA NA 10q25.3 NA NA NA NA rs41310290 0.04 0.04 0.031 0.0307508 0.0815 NA 0.072 0.0045 0.0164 0.07 NA 0.08 0.01 NA 0.094 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221574 NA NA 0.093966 0.015173 NA 0.014 NA 3.824534 1270 9 8331548 8331548 C T intronic PTPRD NA NA NA intronic ENSG00000153707 NA NA NA NA NA 9p24.1 NA NA NA NA rs76379489 0.03 0.03 0.034 0.0567093 0.0487 0.0288 0.0447 0.003 0.1748 0.05 0.03 0.06 0.0041 0.0931 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132511 NA NA 0.033721 0.012256 NA 0.029 NA 3.824479 1270 10 43318557 43318557 T C intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA rs113467153 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.721903 1.721903 NA NA NA NA NA NA 3.8244 1270 20 56064099 56064099 T C intergenic MIR5095,CTCFL dist=65821;dist=6922 NA NA upstream ENSG00000124097 NA NA NA Score=820;Name=lod=2867 NA 20q13.31 NA NA NA NA rs116593113 NA NA 0.129 0.227636 0.337 0.2361 0.183 0.0673 0.3548 NA NA NA NA 0.2751 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085548 NA NA 0.0635 0.007425 NA NA NA 3.8244 1270 20 60572568 60572568 G A intronic TAF4 NA NA NA intronic ENSG00000130699 NA NA NA NA NA 20q13.33 NA NA NA NA rs41284980 0.03 0.03 0.033 0.0209665 0.0696 NA 0.0259 0.003 0.0133 0.07 NA 0.03 0.01 0.0452 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.920549 NA NA 0.06093 0.009759 NA 0.072 NA 3.82427 1270 1 205031769 205031769 G A intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA NA NA NA rs2242000 0.23 0.23 0.195 0.232029 0.1759 0.3958 0.2651 0.0946 0.2832 0.18 0.41 0.27 0.09 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117905 NA NA NA NA NA 0.145 NA 3.8241 1270 7 4152863 4152863 G C intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs6956409 0.09 0.09 0.085 0.0960463 0.1759 0.004 0.1225 0.0499 0.1524 0.17 0.0017 0.09 0.08 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.426729 NA NA NA NA NA 0.138 NA 3.8241 1270 7 21654970 21654970 A G intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs55937657 0.15 0.15 0.147 0.135783 0.1759 0.1796 0.1081 0.0938 0.1258 0.17 0.21 0.13 0.08 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31839 NA NA NA NA NA 0.225 NA 3.8241 1270 7 99936427 99936427 T C intergenic PMS2P1,PILRB dist=2497;dist=19199 NA NA ncRNA_exonic ENSG00000242294 NA NA NA NA NA 7q22.1 NA NA NA NA rs3991564 0.11 0.11 0.072 0.107228 0.1759 0.0278 0.1023 0.1165 0.1094 0.18 0.03 0.1 0.1 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.780265 NA NA NA NA NA NA NA 3.8241 1270 7 99950297 99950297 A T intergenic PMS2P1,PILRB dist=16367;dist=5329 NA NA ncRNA_exonic ENSG00000235333 NA NA NA NA NA 7q22.1 NA NA NA NA rs7795656 0.11 0.11 0.097 0.107428 0.1759 0.0278 0.1037 0.1165 0.1094 0.18 0.02 0.1 0.09 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680842 NA NA NA NA NA 0.087 NA 3.8241 1270 7 99956893 99956893 A T intronic PILRB NA NA NA intronic ENSG00000121716 NA NA NA NA NA 7q22.1 NA NA NA NA rs11761426 0.1 0.1 0.101 0.104832 0.1759 0.0278 0.1023 0.1074 0.1094 0.18 0.02 0.1 0.09 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255907 NA NA NA NA NA 0.123 NA 3.8241 1270 11 48928797 48928797 T C intergenic OR4A47,TRIM49B dist=417523;dist=124355 NA NA ncRNA_intronic ENSG00000255527 NA NA NA NA NA 11p11.12 NA NA NA NA rs11040129 0.19 0.19 0.184 0.196086 0.1759 0.1657 0.1527 0.2995 0.1391 0.17 0.16 0.14 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699237 NA NA NA NA NA 0.174 NA 3.8241 1270 11 48967332 48967332 A C intergenic OR4A47,TRIM49B dist=456058;dist=85820 NA NA ncRNA_exonic ENSG00000249910 NA NA NA NA NA 11p11.12 NA NA NA NA rs59149821 0.18 0.18 0.148 0.196086 0.1759 0.1677 0.1527 0.2988 0.138 0.17 0.16 0.14 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.47602 NA NA NA NA NA 0.152 NA 3.8241 1270 11 74842627 74842627 T C intergenic OR2AT4,SLCO2B1 dist=41869;dist=19405 NA NA ncRNA_exonic ENSG00000254475 NA NA NA NA NA 11q13.4 NA NA NA NA rs4245441 NA NA 0.258 0.323083 0.1759 0.3046 0.379 0.4312 0.3078 NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481949 NA NA NA NA NA 0.29 NA 3.8241 1270 12 108098587 108098587 G A intronic PWP1 NA NA NA intronic ENSG00000136045 NA NA NA NA NA 12q23.3 NA NA NA NA rs2287217 0.25 0.25 0.217 0.223043 0.1759 0.4861 0.2867 0.0129 0.2393 0.18 0.55 0.24 0.03 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026405 NA NA NA NA NA 0.167 NA 3.8241 1270 16 20618219 20618219 G T intergenic ACSM2B,ACSM1 dist=30524;dist=16340 NA NA ncRNA_intronic ENSG00000260762 NA NA NA NA NA 16p12.3 NA NA NA NA rs6497508 0.33 0.33 0.338 0.380391 0.1759 0.3492 0.2003 0.6467 0.3906 0.19 0.34 0.2 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79892 NA NA NA NA NA 0.391 NA 3.8241 1270 19 39955304 39955304 T C intronic SUPT5H NA NA NA intronic ENSG00000196235 NA NA NA NA NA 19q13.2 NA NA NA NA rs73035432 0.11 0.11 0.087 0.1248 0.1759 0.0407 0.1412 0.0401 0.2618 0.18 0.03 0.18 0.05 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554458 NA NA NA NA NA 0.087 NA 3.8241 1270 20 56064100 56064100 T C intergenic MIR5095,CTCFL dist=65822;dist=6921 NA NA upstream ENSG00000124097 NA NA NA Score=820;Name=lod=2867 NA 20q13.31 NA NA NA NA rs116355135 0.23 0.23 0.129 0.227636 0.337 0.2361 0.183 0.0673 0.3548 0.35 0.23 0.18 0.08 0.2753 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335081 NA NA 0.063926 0.00697 NA NA NA 3.823774 1270 19 32930069 32930069 G A exonic DPY19L3 NA synonymous SNV DPY19L3:NM_001172774:exon7:c.G648A:p.A216A,DPY19L3:NM_207325:exon7:c.G648A:p.A216A exonic ENSG00000178904 NA synonymous SNV ENSG00000178904:ENST00000342179:exon7:c.G648A:p.A216A,ENSG00000178904:ENST00000392250:exon7:c.G648A:p.A216A,ENSG00000178904:ENST00000586987:exon7:c.G648A:p.A216A NA NA 19q13.11 NA NA NA NA rs6510249 0.59 0.59 0.593 0.546725 0.6402 0.6399 0.4294 0.4334 0.591 0.65 0.65 0.51 0.48 0.5811 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691631 NA NA 0.621628 0.465048 NA 0.543 NA 3.8237386 1270 18 60036083 60036083 A G exonic TNFRSF11A NA synonymous SNV TNFRSF11A:NM_003839:exon9:c.A933G:p.T311T exonic ENSG00000141655 NA synonymous SNV ENSG00000141655:ENST00000586569:exon9:c.A933G:p.T311T NA NA 18q21.33 Score=787;Name=V$HEN1_01 NA NA NA rs8092336 0.98 0.98 0.978 0.980831 0.9513 1 0.9885 0.997 0.9642 0.94 1 0.99 1 0.9562 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076994 NA NA 0.935581 0.988425 NA 0.986 NA 3.8235856 1270 20 3682275 3682275 A G exonic SIGLEC1 NA synonymous SNV SIGLEC1:NM_023068:exon6:c.T1242C:p.T414T exonic ENSG00000088827 NA synonymous SNV ENSG00000088827:ENST00000202578:exon6:c.T1242C:p.T414T,ENSG00000088827:ENST00000344754:exon6:c.T1242C:p.T414T NA NA 20p13 NA NA NA NA rs1018492 0.68 0.68 0.683 0.716054 0.5795 0.7629 0.6758 0.7806 0.7495 0.59 0.74 0.64 0.78 0.6676 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.221703 NA NA 0.596047 0.744212 NA 0.746 NA 3.8235196 1270 18 43310187 43310187 A G intronic SLC14A1 NA NA NA ncRNA_UTR5 ENSG00000141469 NA NA NA NA NA 18q12.3 NA NA NA NA rs8090908 0.44 0.44 0.413 0.402356 0.5099 0.5188 0.5115 0.1853 0.3875 0.51 0.52 0.52 0.19 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.28828 1.28828 NA NA NA NA 0.406 NA 3.8234333 1270 2 136594158 136594158 G A exonic LCT NA synonymous SNV LCT:NM_002299:exon1:c.C582T:p.T194T exonic ENSG00000115850 NA synonymous SNV ENSG00000115850:ENST00000264162:exon1:c.C582T:p.T194T NA NA 2q21.3 NA NA NA NA rs2236783 0.41 0.41 0.363 0.348442 0.5964 0.372 0.402 0.1233 0.3354 0.6 0.38 0.43 0.12 0.5487 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.499311 NA NA 0.69814 0.238084 NA 0.457 NA 3.8234266 1270 20 3527884 3527884 G A intronic ATRN NA NA NA intronic ENSG00000088812 NA NA NA NA NA 20p13 NA NA Name=5 NA rs239187 0.32 0.32 0.324 0.324481 0.4145 0.0298 0.2594 0.5991 0.2106 0.4 0.03 0.28 0.56 0.3536 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.672514 NA NA 0.408605 0.578302 NA 0.413 NA 3.823295 1270 5 78265096 78265096 C T intronic ARSB NA NA NA intronic ENSG00000113273 NA NA NA NA NA 5q14.1 NA NA NA NA rs918580 0.23 0.23 0.257 0.290935 0.1769 0.127 0.1931 0.5318 0.3211 0.19 0.08 0.17 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466217 NA NA NA NA NA 0.232 NA 3.8231 1270 5 169812194 169812194 C T intronic KCNIP1,KCNMB1 NA NA NA intronic ENSG00000145936,ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs2071157 0.21 0.21 0.196 0.241014 0.1769 0.2282 0.2046 0.2648 0.3139 0.18 0.26 0.18 0.21 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156472 NA NA NA NA NA 0.123 NA 3.8231 1270 7 39874338 39874338 T C intergenic LINC00265,CDK13 dist=40116;dist=115621 NA NA ncRNA_exonic ENSG00000233225 NA NA NA NA NA 7p14.1 NA NA NA NA rs79689776 0.2 0.2 0.149 0.217053 0.1769 0.2956 0.1916 0.1104 0.3395 0.17 0.3 0.19 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248912 NA NA NA NA NA 0.101 NA 3.8231 1270 16 21033521 21033521 G A intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs62034888 0.08 0.08 0.079 0.0541134 0.1769 0.001 0.0836 0.0076 0.0245 0.17 NA 0.08 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.762733 1.762733 NA NA NA NA 0.029 NA 3.8231 1270 16 84476022 84476022 A G intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs2288582 0.28 0.28 0.254 0.283147 0.1769 0.5208 0.3127 0.1641 0.2873 0.17 0.52 0.27 0.15 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.038626 NA NA NA NA NA 0.225 NA 3.8231 1270 17 17118689 17118689 G A intronic FLCN NA NA NA intronic ENSG00000133030,ENSG00000154803,ENSG00000264187 NA NA NA NA NA 17p11.2 NA NA NA NA rs34311146 0.09 0.09 0.086 0.0730831 0.1769 NA 0.1513 0.0121 0.0685 0.18 NA 0.14 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785993 NA NA NA NA NA 0.13 NA 3.8231 1270 18 21124834 21124834 A G intronic NPC1 NA NA NA intronic ENSG00000141458 NA NA NA NA NA 18q11.2 NA NA NA NA rs35047242 0.11 0.11 0.103 0.118211 0.1769 0.005 0.1124 0.1014 0.2014 0.18 0.0017 0.14 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498444 NA NA NA NA NA 0.08 NA 3.8231 1270 21 45799164 45799164 T C intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838556 0.24 0.24 0.245 0.239417 0.1769 0.1577 0.219 0.4281 0.1472 0.18 0.17 0.2 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534703 NA NA NA NA NA 0.297 NA 3.8231 1270 10 129179653 129179653 C T intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs6482833 0.05 0.05 0.05 0.0409345 0.0656 0.004 0.0519 0.0635 0.0153 0.06 0.0017 0.05 0.08 0.0491 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143493 NA NA 0.062362 0.052055 NA 0.036 NA 3.822938 1270 1 151742798 151742798 T C intronic OAZ3 NA NA NA UTR3 ENSG00000182134 ENST00000525790:c.*1443A>G NA NA NA NA 1q21.3 NA NA NA NA rs3748612 0.31 0.31 0.312 0.289936 0.3439 0.3046 0.3545 0.2564 0.2188 0.34 0.29 0.36 0.27 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.180614 4.180614 NA NA NA NA 0.377 NA 3.8227667 1270 11 88386300 88386300 C T intronic GRM5 NA NA NA intronic ENSG00000168959 NA NA NA NA NA 11q14.3 NA NA NA NA rs17770948 0.06 0.06 0.054 0.0511182 0.0586 0.0565 0.0576 0.0537 0.0297 0.05 0.07 0.06 0.05 0.0619 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.125447 NA NA 0.056784 0.052022 NA 0.094 NA 3.822716 1270 12 48145456 48145456 G A intronic RAPGEF3 NA NA NA intronic ENSG00000079337 NA NA NA NA NA 12q13.11 NA NA NA NA rs4141223 0.06 0.06 0.051 0.0792732 0.0606 0.0496 0.0476 0.0582 0.18 0.06 0.07 0.03 0.05 0.0673 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633502 NA NA 0.049535 0.042669 NA 0.058 NA 3.822565 1270 12 45410075 45410075 A G exonic DBX2 NA synonymous SNV DBX2:NM_001004329:exon4:c.T1014C:p.A338A exonic ENSG00000185610 NA synonymous SNV ENSG00000185610:ENST00000332700:exon4:c.T1014C:p.A338A NA NA 12q12 NA NA NA NA rs1224442 0.68 0.68 0.661 0.734225 0.5825 0.7887 0.732 0.7065 0.8732 0.58 0.78 0.72 0.69 0.6691 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721918 NA NA 0.592558 0.667499 NA 0.609 NA 3.8225086 1270 11 106579204 106579204 C A intronic GUCY1A2 NA NA NA intronic ENSG00000152402 NA NA NA NA NA 11q22.3 NA NA Name=5 NA rs12420232 0.41 0.41 0.403 0.393171 0.4066 0.6855 0.3285 0.1884 0.4008 0.41 0.65 0.35 0.19 0.3898 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430288 NA NA 0.381224 0.214902 NA 0.377 NA 3.822376 1270 9 115946170 115946170 A G intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA NA NA rs10981674 0.05 0.05 0.051 0.0786741 0.0477 0.0387 0.036 0.0991 0.1544 0.05 0.02 0.03 0.11 0.0665 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761378 NA NA 0.06343 0.104595 NA 0.101 NA 3.82237 1270 1 11860458 11860458 C T intronic MTHFR NA NA NA intronic ENSG00000177000 NA NA NA NA NA 1p36.22 NA NA NA NA rs2066471 0.11 0.11 0.111 0.114018 0.1779 0.1002 0.0778 0.0106 0.228 0.19 0.09 0.11 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623674 NA NA NA NA NA 0.123 NA 3.8221 1270 2 233348647 233348647 G A intronic ECEL1 NA NA NA intronic ENSG00000171551 NA NA NA NA NA 2q37.1 NA NA NA NA rs2241755 0.11 0.11 0.1 0.0940495 0.1779 0.0744 0.1254 0.0091 0.1207 0.16 0.08 0.14 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763585 NA NA NA NA NA 0.101 NA 3.8221 1270 4 104061351 104061351 T C intronic CENPE NA NA NA intronic ENSG00000138778 NA NA NA NA NA 4q24 NA NA NA NA rs7664021 0.14 0.14 0.138 0.169928 0.1779 0.1548 0.1916 0.0461 0.3292 0.17 0.14 0.19 0.05 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229377 NA NA NA NA NA 0.239 NA 3.8221 1270 5 94820639 94820639 G A intronic TTC37 NA NA NA intronic ENSG00000198677 NA NA NA NA NA 5q15 NA NA NA NA rs6891486 0.25 0.25 0.267 0.28135 0.1779 0.124 0.196 0.559 0.2352 0.18 0.13 0.21 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136444 NA NA NA NA NA 0.362 NA 3.8221 1270 5 110818421 110818421 C T intronic CAMK4 NA NA NA intronic ENSG00000152495 NA NA NA NA NA 5q22.1 NA NA NA NA rs3733995 0.16 0.16 0.164 0.143371 0.1779 0.0536 0.1585 0.239 0.0603 0.16 0.07 0.19 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000909 NA NA NA NA NA 0.254 NA 3.8221 1270 5 128365489 128365489 A G intronic SLC27A6 NA NA NA intronic ENSG00000113396 NA NA NA NA NA 5q23.3 NA NA NA NA rs2289215 0.2 0.2 0.192 0.226038 0.1779 0.2401 0.2219 0.236 0.2505 0.18 0.2 0.2 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433717 NA NA NA NA NA 0.319 NA 3.8221 1270 6 32411362 32411362 A C intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA NA NA NA rs13218331 0.12 0.12 0.099 0.120607 0.1779 0.0516 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350044 NA NA NA NA NA 0.123 NA 3.8221 1270 8 23294392 23294392 C T intronic ENTPD4 NA NA NA intronic ENSG00000197217 NA NA NA NA NA 8p21.3 NA NA NA NA rs2272643 0.12 0.12 0.107 0.105232 0.1779 0.0565 0.2305 0.0424 0.0767 0.2 0.06 0.2 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69303 NA NA NA NA NA 0.123 NA 3.8221 1270 11 102573912 102573912 C T intronic MMP27 NA NA NA intronic ENSG00000137675 NA NA NA NA NA 11q22.2 NA NA NA NA rs61893941 0.12 0.12 0.112 0.101438 0.1779 0.1071 0.1715 0.0083 0.093 0.19 0.1 0.13 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468748 NA NA NA NA NA 0.029 NA 3.8221 1270 15 52702400 52702400 G A intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs10518689 0.16 0.16 0.149 0.146366 0.1779 0.1766 0.1542 0.0893 0.1544 0.18 0.19 0.19 0.09 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904357 NA NA NA NA NA 0.152 NA 3.8221 1270 22 40797447 40797447 T A intronic SGSM3 NA NA NA intronic ENSG00000100359 NA NA NA NA NA 22q13.1 NA NA NA NA rs9611337 0.34 0.34 0.241 0.338658 0.1779 0.2163 0.4827 0.6399 0.1207 0.17 0.24 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503882 NA NA NA NA NA 0.42 NA 3.8221 1270 19 41430151 41430151 G T upstream CYP2B7P1 NA NA NA ncRNA_exonic ENSG00000256612 NA NA NA NA NA 19q13.2 NA NA NA NA rs34418474 0.15 0.15 0.125 0.123203 0.163 0.2103 0.0937 0.0817 0.0695 0.16 0.2 0.1 0.11 0.1816 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.326169 1.326169 NA NA NA NA 0.196 NA 3.8220666 1270 10 95162660 95162660 T A intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA NA NA rs41290206 0.03 0.03 0.023 0.0305511 0.0666 0.001 0.0418 0.0272 0.0204 0.06 NA 0.04 0.02 0.0468 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495326 NA NA 0.064765 0.043132 NA 0.036 NA 3.821835 1270 10 95162147 95162147 G T intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA NA NA rs41290204 0.03 0.03 0.03 0.0305511 0.0666 0.001 0.0418 0.0272 0.0204 0.06 NA 0.04 0.02 0.0467 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023957 NA NA 0.064981 0.041989 NA 0.036 NA 3.821719 1270 2 111551763 111551763 A G intronic ACOXL NA NA NA intronic ENSG00000153093 NA NA NA NA NA 2q13 NA NA NA NA rs13388313 0.15 0.15 0.148 0.168331 0.0388 0.0516 0.1124 0.4569 0.0716 0.03 0.05 0.11 0.49 0.0883 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105597 NA NA 0.051195 0.408069 ID=COSN166246;OCCURENCE=1(NS) 0.21 NA 3.821705 1270 6 133138249 133138249 T C intronic RPS12 NA NA NA intronic ENSG00000112306 NA NA NA NA NA 6q23.2 NA Name=CTCF_(SC-5916) NA NA rs2236381 0.4 0.4 0.376 0.41893 0.3757 0.2847 0.5908 0.4614 0.4223 0.37 0.29 0.58 0.43 0.4138 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903192 NA NA 0.388876 0.444848 NA 0.348 NA 3.821624 1270 2 74604673 74604673 C T intronic DCTN1 NA NA NA intronic ENSG00000204843 NA NA NA NA NA 2p13.1 NA NA NA NA rs3213672 0.28 0.28 0.292 0.293331 0.0915 0.4266 0.1542 0.4697 0.2239 0.09 0.45 0.16 0.43 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041887 NA NA 0.087052 0.406792 NA 0.254 NA 3.821448 1270 6 146719883 146719883 C A intronic GRM1 NA NA NA intronic ENSG00000152822 NA NA NA NA NA 6q24.3 NA NA NA NA rs362856 0.21 0.21 0.229 0.213059 0.0467 0.2738 0.0692 0.4637 0.0849 0.05 0.3 0.06 0.45 0.0975 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.962287 NA NA 0.034419 0.397413 NA 0.152 NA 3.821381 1270 10 134650440 134650440 T C intronic TTC40 NA NA NA intronic ENSG00000171811 NA NA NA NA NA 10q26.3 NA Name=CTCF NA NA rs3750580 0.31 0.31 0.266 0.306709 0.3917 0.2718 0.513 0.0991 0.3896 0.39 0.27 0.48 0.11 0.3915 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022815 NA NA 0.395581 0.143668 NA 0.21 NA 3.821219 1270 19 44890697 44890697 A G exonic ZNF285 NA synonymous SNV ZNF285:NM_152354:exon4:c.T1710C:p.H570H exonic ENSG00000267508 NA synonymous SNV ENSG00000267508:ENST00000330997:exon4:c.T1710C:p.H570H,ENSG00000267508:ENST00000544719:exon4:c.T1710C:p.H570H,ENSG00000267508:ENST00000591679:exon5:c.T1731C:p.H577H NA NA 19q13.31 NA NA NA NA rs1836280 0.5 0.5 0.45 0.480232 0.6571 0.5069 0.438 0.2776 0.5746 0.63 0.53 0.46 0.28 0.5582 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60365 NA NA 0.630233 0.357694 NA 0.348 NA 3.8211336 1270 1 21902950 21902950 C A intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs1780329 0.32 0.32 0.29 0.322684 0.1789 0.4673 0.3184 0.3707 0.2597 0.18 0.49 0.31 0.33 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103946 NA NA NA NA NA 0.217 NA 3.8211 1270 1 89652846 89652846 G A intronic GBP4 NA NA NA intronic ENSG00000162654 NA NA NA NA NA 1p22.2 NA NA NA NA rs12129014 0.27 0.27 0.242 0.252396 0.1789 0.372 0.3703 0.2292 0.1524 0.19 0.39 0.3 0.24 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075412 NA NA NA NA NA 0.246 NA 3.8211 1270 3 9801080 9801080 G A intronic CAMK1,OGG1 NA NA NA intronic ENSG00000114026,ENSG00000134072 NA NA NA NA NA 3p25.3 NA NA NA NA rs2304277 0.34 0.34 0.321 0.352037 0.1789 0.5387 0.2997 0.385 0.3303 0.18 0.53 0.31 0.37 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691857 NA NA NA NA NA 0.333 NA 3.8211 1270 4 77022286 77022286 C G intronic ART3 NA NA NA intronic ENSG00000156219 NA NA NA NA NA 4q21.1 NA NA NA NA rs17001385 0.19 0.19 0.154 0.159744 0.1789 0.3522 0.1628 0.0053 0.1483 0.18 0.37 0.18 0.01 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759122 NA NA NA NA NA 0.058 NA 3.8211 1270 4 82065566 82065566 A T intronic PRKG2 NA NA NA intronic ENSG00000138669 NA NA NA NA NA 4q21.21 NA NA NA NA rs7687935 0.46 0.46 0.494 0.511382 0.1789 0.5615 0.3213 0.9138 0.3926 0.17 0.53 0.35 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098834 NA NA NA NA NA 0.551 NA 3.8211 1270 6 55805282 55805282 T G intergenic BMP5,COL21A1 dist=64907;dist=116106 NA NA ncRNA_exonic ENSG00000214604 NA NA NA NA NA 6p12.1 NA NA NA NA rs12213017 0.18 0.18 0.173 0.181909 0.1789 0.0883 0.1787 0.3101 0.1104 0.18 0.08 0.16 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187968 NA NA NA NA NA 0.123 NA 3.8211 1270 11 101080125 101080125 G A intergenic LOC101054525,TRPC6 dist=50124;dist=242170 NA NA ncRNA_exonic ENSG00000255504 NA NA NA NA NA 11q22.1 NA NA NA NA rs11224630 0.08 0.08 NA 0.0806709 0.1789 0.0268 0.1412 0.0061 0.093 0.14 0.02 0.14 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081493 NA NA NA NA NA NA NA 3.8211 1270 11 101080126 101080126 A G intergenic LOC101054525,TRPC6 dist=50125;dist=242169 NA NA ncRNA_exonic ENSG00000255504 NA NA NA NA NA 11q22.1 NA NA NA NA rs11224631 0.08 0.08 NA 0.0806709 0.1789 0.0268 0.1412 0.0061 0.093 0.14 0.02 0.14 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361236 NA NA NA NA NA NA NA 3.8211 1270 11 118239266 118239266 G A intronic UBE4A NA NA NA intronic ENSG00000110344 NA NA NA NA NA 11q23.3 NA NA NA NA rs2276421 0.26 0.26 0.251 0.297324 0.1789 0.5119 0.1095 0.1611 0.5153 0.19 0.53 0.14 0.14 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.424667 NA NA NA NA NA 0.203 NA 3.8211 1270 17 65199627 65199627 T C intronic HELZ NA NA NA intronic ENSG00000198265 NA NA NA NA NA 17q24.2 NA NA NA NA rs1894928 0.2 0.2 0.202 0.210863 0.1789 0.2004 0.1671 0.2988 0.1667 0.18 0.2 0.14 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812583 NA NA NA NA NA 0.21 NA 3.8211 1270 22 47062894 47062894 G T intronic GRAMD4 NA NA NA intronic ENSG00000075240 NA NA NA NA NA 22q13.31 NA NA NA NA rs6008947 0.12 0.12 0.125 0.145367 0.1789 0.002 0.1239 0.1982 0.2025 0.18 0.0035 0.14 0.15 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413742 NA NA NA NA NA 0.101 NA 3.8211 1270 4 3318413 3318413 A G exonic RGS12 NA synonymous SNV RGS12:NM_002926:exon2:c.A516G:p.S172S,RGS12:NM_198229:exon2:c.A516G:p.S172S exonic ENSG00000159788 NA synonymous SNV ENSG00000159788:ENST00000382788:exon1:c.A516G:p.S172S,ENSG00000159788:ENST00000514268:exon1:c.A516G:p.S172S,ENSG00000159788:ENST00000336727:exon2:c.A516G:p.S172S,ENSG00000159788:ENST00000344733:exon2:c.A516G:p.S172S,ENSG00000159788:ENST00000543385:exon2:c.A516G:p.S172S NA NA 4p16.3 NA NA NA NA rs2236052 0.69 0.69 0.738 0.746006 0.5895 0.6617 0.6383 0.9796 0.7546 0.58 0.65 0.61 0.97 0.6517 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038144 NA NA 0.604767 0.910123 NA 0.616 NA 3.8206996 1270 6 31765864 31765864 T A intronic LSM2 NA NA NA intronic ENSG00000204392 NA NA NA NA NA 6p21.33 NA NA NA NA rs1144710 0.11 0.11 NA 0.0519169 0.0915 0.0169 0.0504 0.084 0.0051 0.11 0.02 0.08 0.22 0.0879 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684088 NA NA NA NA NA 0.036 NA 3.8206 1270 20 20023174 20023174 C G intronic CRNKL1 NA NA NA intronic ENSG00000101343 NA NA NA NA NA 20p11.23 NA NA NA NA rs3828004 0.21 0.21 0.191 0.198482 0.0278 0.5883 0.1844 0.1157 0.0941 0.03 0.59 0.15 0.11 0.1174 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425276 NA NA 0.034302 0.100999 NA 0.123 NA 3.820498 1270 4 106620983 106620983 C T intronic INTS12 NA NA NA intronic ENSG00000138785 NA NA NA NA NA 4q24 NA NA NA NA rs72671820 0.04 0.04 0.035 0.0249601 0.0636 NA 0.0562 0.003 0.0184 0.07 NA 0.07 0.0041 0.0491 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290934 1.290934 NA 0.06686 0.011126 NA 0.029 NA 3.82044 1270 14 20849854 20849854 G A intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs12433941 0.03 0.03 0.032 0.0335463 0.0666 NA 0.0331 0.003 0.0757 0.07 NA 0.03 NA 0.0533 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222379 NA NA 0.059884 0.011802 NA 0.007 NA 3.820216 1270 8 145001509 145001509 T C intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs11136333 0.25 0.25 0.214 0.230831 0.4274 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 0.3437 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019386 NA NA 0.408725 0.090952 NA 0.196 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078862.3;CLNDSDB=.;CLNDSDBID=. 3.820175 1270 5 78076517 78076517 G C intronic ARSB NA NA NA intronic ENSG00000113273 NA NA NA NA NA 5q14.1 NA NA NA NA rs3822473 0.1 0.1 0.081 0.109824 0.0517 0.119 0.1686 0.1195 0.1053 0.05 0.1 0.14 0.13 0.0808 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736458 NA NA 0.047326 0.107808 NA 0.116 NA 3.820174 1270 2 10135855 10135855 T C intronic GRHL1 NA NA NA intronic ENSG00000134317 NA NA NA NA NA 2p25.1 NA NA NA NA rs11674576 0.2 0.2 0.194 0.221446 0.1799 0.1409 0.2075 0.3449 0.1902 0.17 0.12 0.21 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81868 NA NA NA NA NA 0.181 NA 3.8201 1270 6 32975699 32975699 G C intronic HLA-DOA NA NA NA intronic ENSG00000204252 NA NA NA NA NA 6p21.32 NA NA NA NA rs9276981 0.19 0.19 0.134 0.213658 0.1799 0.2014 0.2277 0.2663 0.18 0.18 0.17 0.2 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04583 NA NA NA NA NA 0.116 NA 3.8201 1270 11 48968047 48968047 A G intergenic OR4A47,TRIM49B dist=456773;dist=85105 NA NA ncRNA_intronic ENSG00000249910 NA NA NA NA NA 11p11.12 NA NA NA NA rs1857790 0.22 0.22 0.193 0.270367 0.1799 0.4018 0.2363 0.118 0.4581 0.18 0.36 0.2 0.13 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938669 NA NA NA NA NA 0.087 NA 3.8201 1270 11 48999833 48999833 G A intergenic OR4A47,TRIM49B dist=488559;dist=53319 NA NA ncRNA_intronic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs12576844 0.22 0.22 0.193 0.271965 0.1799 0.4018 0.2363 0.1188 0.4652 0.18 0.36 0.2 0.13 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.964633 NA NA NA NA NA 0.109 NA 3.8201 1270 19 41331149 41331149 C T intergenic RAB4B-EGLN2,CYP2A6 dist=16803;dist=18294 NA NA ncRNA_exonic ENSG00000237118 NA NA NA NA NA 19q13.2 NA NA NA NA rs56043834 0.08 0.08 0.076 0.0573083 0.1799 0.001 0.0965 0.0076 0.0286 0.19 NA 0.09 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792738 NA NA NA NA NA 0.058 NA 3.8201 1270 19 53015987 53015987 C G UTR3 ZNF578 NM_001099694:c.*580C>G NA NA upstream;downstream ENSG00000269349;ENSG00000258405 NA NA NA NA NA 19q13.41 NA NA NA NA rs7259769 0.26 0.26 0.199 0.278954 0.1799 0.5179 0.3401 0.1203 0.3057 0.17 0.5 0.28 0.08 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813492 NA NA NA NA NA 0.174 NA 3.8201 1270 8 52233310 52233310 T G intronic PXDNL NA NA NA ncRNA_exonic ENSG00000253664 NA NA NA NA NA 8q11.22 NA NA NA NA rs2304552 0.27 0.27 NA 0.321086 0.2386 0.1429 0.2291 0.6346 0.2311 0.21 0.13 0.24 0.55 0.2486 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947877 NA NA 0.026129 0.131452 NA NA NA 3.8200043 1270 15 54847724 54847724 G A intronic UNC13C NA NA NA intronic ENSG00000137766 NA NA NA NA NA 15q21.3 NA NA NA NA rs62022211 0.06 0.06 0.031 0.0589058 0.0567 0.0228 0.1801 0.0287 0.0532 0.06 0.02 0.13 0.03 0.071 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0225 NA NA 0.052382 0.040084 NA NA NA 3.819918 1270 6 151785551 151785551 A G intronic C6orf211 NA NA NA intronic ENSG00000146476 NA NA NA NA NA 6q25.1 NA NA NA NA rs17081270 0.1 0.1 0.106 0.113019 0.0507 0.1577 0.0447 0.1861 0.0808 0.05 0.14 0.04 0.16 0.0777 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863672 NA NA 0.052154 0.140618 NA 0.101 NA 3.819446 1270 22 50900951 50900951 T C intronic SBF1 NA NA NA intronic ENSG00000100241 NA NA NA NA NA 22q13.33 NA NA NA NA rs116404506 0.08 0.08 0.074 0.0910543 0.0676 0.0228 0.0403 0.2231 0.0429 0.06 0.02 0.04 0.18 0.0665 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.363108 NA NA 0.046561 0.152847 NA 0.051 NA 3.819339 1270 1 29616318 29616318 C A intronic PTPRU NA NA NA intronic ENSG00000060656 NA NA NA NA NA 1p35.3 NA NA NA NA rs2076620 0.14 0.14 0.125 0.141973 0.1809 0.1627 0.1902 0.0719 0.1411 0.18 0.15 0.18 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158849 NA NA NA NA NA 0.145 NA 3.8191 1270 6 30138853 30138853 C A intronic TRIM15 NA NA NA intronic ENSG00000204610 NA NA NA NA NA 6p22.1 NA NA NA NA rs41272591 0.18 0.18 0.15 0.173323 0.1809 0.3552 0.1023 0.0136 0.2444 0.19 0.34 0.12 0.02 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.236716 1.236716 NA NA NA NA 0.268 NA 3.8191 1270 9 112642756 112642756 G T intronic PALM2,PALM2-AKAP2 NA NA NA intronic ENSG00000157654,ENSG00000241978,ENSG00000243444 NA NA NA NA NA 9q31.3 NA NA NA NA rs10816904 0.26 0.26 0.279 0.317492 0.1809 0.2589 0.1715 0.441 0.455 0.19 0.24 0.17 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08303 NA NA NA NA NA 0.261 NA 3.8191 1270 13 23708423 23708423 G A intergenic BASP1P1,SGCG dist=236103;dist=46637 NA NA ncRNA_exonic ENSG00000233440 NA NA NA NA NA 13q12.12 NA NA NA NA rs9510591 0.13 0.13 0.118 0.112819 0.1809 0.0734 0.1138 0.1135 0.0818 0.18 0.08 0.15 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428424 NA NA NA NA NA 0.225 NA 3.8191 1270 14 32711695 32711695 T G intergenic ARHGAP5,AKAP6 dist=82761;dist=86784 NA NA ncRNA_exonic ENSG00000258619 NA NA NA NA NA 14q12 NA NA NA NA rs12433700 0.23 0.23 0.214 0.241214 0.1809 0.2133 0.3905 0.292 0.1575 0.18 0.19 0.32 0.29 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218798 NA NA NA NA NA 0.152 NA 3.8191 1270 19 50510678 50510678 A G intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs7249316 0.27 0.27 0.291 0.254193 0.1809 0.3403 0.1744 0.3782 0.1299 0.19 0.33 0.2 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719401 NA NA NA NA NA 0.232 NA 3.8191 1270 19 53819176 53819176 C T intergenic BIRC8,ZNF845 dist=24301;dist=17826 NA NA ncRNA_exonic ENSG00000174677 NA NA NA NA NA 19q13.42 NA NA NA NA rs11880867 0.17 0.17 0.143 0.161542 0.1809 0.1587 0.1599 0.1974 0.0971 0.17 0.18 0.14 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218953 NA NA NA NA NA 0.087 NA 3.8191 1270 19 14575010 14575010 G A intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA NA NA NA rs34819734 0.06 0.06 0.043 0.0601038 0.0636 0.0317 0.1182 0.0598 0.045 0.05 0.03 0.11 0.05 0.0621 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195392 NA NA 0.055287 0.060528 NA 0.08 NA 3.819013 1270 21 15535889 15535889 A G intronic LIPI NA NA NA intronic ENSG00000188992 NA NA NA NA NA 21q11.2 NA NA NA NA rs73346033 0.12 0.12 0.12 0.127995 0.0517 0.2232 0.098 0.1717 0.0706 0.05 0.22 0.08 0.16 0.0776 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127193 NA NA 0.052154 0.143085 NA 0.101 NA 3.818546 1270 7 138732274 138732274 C G UTR3 ZC3HAV1 NM_020119:c.*66G>C NA NA UTR3 ENSG00000105939 ENST00000242351:c.*66G>C,ENST00000464606:c.*66G>C NA NA NA NA 7q34 NA NA NA NA rs3087999 0.5 0.5 0.517 0.53135 0.5149 0.3611 0.3775 0.7141 0.5859 0.5 0.37 0.42 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561893 NA NA NA NA NA 0.5 NA 3.8184334 1270 1 209778771 209778771 G C intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs35508847 0.18 0.18 0.162 0.183906 0.1819 0.12 0.2003 0.3169 0.0603 0.17 0.12 0.14 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705802 NA NA NA NA NA 0.109 NA 3.8181 1270 1 209779126 209779126 C A intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs11119313 0.18 0.18 0.182 0.187101 0.1819 0.12 0.2032 0.3275 0.0603 0.17 0.12 0.14 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372258 NA NA NA NA NA 0.109 NA 3.8181 1270 1 209779137 209779137 C T intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs2235449 0.18 0.18 0.178 0.187101 0.1819 0.12 0.2032 0.3275 0.0603 0.17 0.12 0.14 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036652 NA NA NA NA NA 0.109 NA 3.8181 1270 2 20233929 20233929 C T intronic LAPTM4A NA NA NA intronic ENSG00000068697 NA NA NA NA NA 2p24.1 NA NA NA NA rs936509 0.3 0.3 0.306 0.342053 0.1819 0.4782 0.1715 0.3472 0.4806 0.18 0.48 0.16 0.35 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547923 NA NA NA NA NA 0.239 NA 3.8181 1270 2 29754721 29754721 T C intronic ALK NA NA NA intronic ENSG00000171094 NA NA NA NA NA 2p23.2 NA NA NA NA rs11689790 0.09 0.09 0.085 0.0644968 0.1819 0.001 0.0821 0.0401 0.0297 0.18 0.0017 0.09 0.04 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901136 NA NA NA NA NA 0.196 NA 3.8181 1270 5 137034169 137034169 C T intronic KLHL3 NA NA NA intronic ENSG00000146021 NA NA NA NA NA 5q31.2 NA NA NA NA rs41298968 0.11 0.11 0.096 0.116214 0.1819 0.0238 0.1311 0.0628 0.2055 0.18 0.03 0.16 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588878 NA NA NA NA NA 0.188 NA 3.8181 1270 5 167992937 167992937 A G intronic PANK3 NA NA NA intronic ENSG00000120137 NA NA NA NA NA 5q34 NA NA NA NA rs34178624 0.11 0.11 0.107 0.0792732 0.1819 0.0853 0.0937 0.0091 0.0521 0.18 0.1 0.1 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501542 NA NA NA NA NA 0.051 NA 3.8181 1270 11 6532778 6532778 A T intronic DNHD1 NA NA NA intronic ENSG00000179532 NA NA NA NA NA 11p15.4 NA NA NA NA rs17244263 0.13 0.13 0.129 0.139776 0.1819 0.0298 0.1614 0.1256 0.2137 0.18 0.04 0.14 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237561 NA NA NA NA NA 0.225 NA 3.8181 1270 12 6562538 6562538 C T intronic TAPBPL NA NA NA intronic ENSG00000139192 NA NA NA NA NA 12p13.31 NA NA NA NA rs2041386 0.1 0.1 0.069 0.0976438 0.1819 0.0109 0.1196 0.0076 0.2065 0.19 0.01 0.16 0.01 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531576 NA NA NA NA NA 0.072 NA 3.8181 1270 12 63052559 63052559 A T intronic PPM1H NA NA NA intronic ENSG00000111110 NA NA NA NA NA 12q14.1 NA NA NA NA rs11174587 0.1 0.1 0.084 0.0816693 0.1819 0.0149 0.1095 0.0378 0.0869 0.18 0.01 0.12 0.07 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102564 NA NA NA NA NA 0.152 NA 3.8181 1270 15 42127918 42127918 A G intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA NA NA rs11070350 0.21 0.21 0.232 0.222843 0.1819 0.122 0.1744 0.3593 0.2188 0.18 0.13 0.19 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445353 NA NA NA NA NA 0.297 NA 3.8181 1270 16 74877125 74877125 G A intergenic FA2H,WDR59 dist=68396;dist=30346 NA NA ncRNA_exonic ENSG00000261458 NA NA NA NA NA 16q23.1 NA NA NA NA rs9930887 0.33 0.33 0.314 0.370807 0.1819 0.5496 0.4323 0.3238 0.4008 0.19 0.57 0.33 0.29 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.183391 NA NA NA NA NA 0.275 NA 3.8181 1270 20 44352740 44352740 G A intronic SPINT4 NA NA NA intronic ENSG00000149651 NA NA NA Score=243;Name=lod=13 NA 20q13.12 NA NA NA NA rs1487317 0.47 0.47 0.478 0.519768 0.3857 0.4742 0.3199 0.7231 0.5716 0.36 0.48 0.35 0.74 0.426 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.266594 2.266594 NA 0.37034 0.650682 NA 0.449 NA 3.81796 1270 2 136575199 136575199 G T exonic LCT NA synonymous SNV LCT:NM_002299:exon6:c.C1419A:p.G473G exonic ENSG00000115850 NA synonymous SNV ENSG00000115850:ENST00000264162:exon6:c.C1419A:p.G473G NA NA 2q21.3 NA NA NA NA rs6719488 0.42 0.42 0.377 0.35603 0.5954 0.3998 0.4323 0.1195 0.3303 0.6 0.41 0.46 0.11 0.5559 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.245934 NA NA 0.697442 0.236042 NA 0.464 NA 3.8179246 1270 5 149447771 149447771 G A intronic CSF1R NA NA NA intronic ENSG00000182578 NA NA NA NA NA 5q32 NA NA NA NA rs34928010 0.15 0.15 0.157 0.178914 0.0338 0.1855 0.2003 0.3011 0.1411 0.03 0.16 0.18 0.28 0.109 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.601711 1.601711 NA 0.039419 0.259192 NA 0.181 NA 3.817781 1270 5 52382925 52382925 C T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs2303120 0.11 0.11 0.107 0.104233 0.0885 0.0298 0.0677 0.2035 0.089 0.09 0.03 0.06 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033111 NA NA 0.093966 0.174133 NA 0.109 NA 3.817534 1270 7 102614137 102614137 C A intronic FBXL13 NA NA NA ncRNA_exonic ENSG00000230257 NA NA NA NA NA 7q22.1 NA NA NA NA rs6465886 0.18 0.18 0.201 0.163538 0.1819 0.1657 0.1326 0.2148 0.0951 0.2 0.15 0.16 0.2 0.1602 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31909 NA NA 0.173871 0.213795 NA 0.159 NA 3.8173623 1270 19 50368361 50368361 T A intronic PNKP NA NA NA intronic ENSG00000039650 NA NA NA NA NA 19q13.33 NA NA Name=2 NA rs1290649 0.34 0.34 0.317 0.375399 0.4056 0.2163 0.2752 0.4266 0.5102 0.4 0.2 0.33 0.4 0.3871 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349475 NA NA 0.390073 0.397153 NA 0.283 NA 3.817227 1270 1 94474185 94474185 A C intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs2275032 0.19 0.19 0.18 0.177516 0.1829 0.121 0.1758 0.264 0.1145 0.17 0.16 0.19 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325675 NA NA NA NA NA 0.188 NA 3.8171 1270 1 95332814 95332814 C T intronic SLC44A3 NA NA NA intronic ENSG00000143036 NA NA NA NA NA 1p21.3 NA NA NA NA rs74104711 0.22 0.22 0.224 0.243411 0.1829 0.2192 0.2622 0.2829 0.2638 0.2 0.19 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910596 NA NA NA NA ID=COSN163164;OCCURENCE=1(breast) 0.188 NA 3.8171 1270 1 109813719 109813719 C T intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA NA NA NA rs17035665 0.15 0.15 0.169 0.161142 0.1829 0.0556 0.0965 0.2247 0.2076 0.18 0.06 0.11 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06752 NA NA NA NA NA 0.239 NA 3.8171 1270 7 100482720 100482720 G A intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA NA NA NA rs3757868 0.11 0.11 0.084 0.0884585 0.1829 0.0308 0.1023 0.0416 0.1043 0.2 0.03 0.12 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.324332 NA NA NA NA NA 0.109 NA 3.8171 1270 14 51381950 51381950 T A intronic PYGL NA NA NA intronic ENSG00000100504 NA NA NA NA NA 14q22.1 NA NA NA NA rs2075646 0.25 0.25 0.217 0.235423 0.1829 0.4365 0.3545 0.0408 0.2607 0.19 0.44 0.34 0.06 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791803 NA NA NA NA NA 0.159 NA 3.8171 1270 15 90333851 90333851 G A intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs17239917 0.1 0.1 0.102 0.0992412 0.1829 0.001 0.0937 0.0825 0.1411 0.19 0.0035 0.09 0.07 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090807 NA NA NA NA NA 0.13 NA 3.8171 1270 17 39484556 39484556 G T intergenic KRTAP17-1,KRT33A dist=12609;dist=17789 NA NA ncRNA_exonic ENSG00000233014 NA NA NA NA NA 17q21.2 NA NA NA NA rs28615092 0.22 0.22 0.224 0.213259 0.1829 0.3175 0.1383 0.2269 0.1718 0.18 0.31 0.15 0.24 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008939 NA NA NA NA NA 0.181 NA 3.8171 1270 17 39580130 39580130 G A intronic KRT37 NA NA NA ncRNA_exonic ENSG00000234859 NA NA NA NA NA 17q21.2 NA NA NA NA rs78139770 0.17 0.17 0.16 0.172324 0.1759 0.3224 0.1268 0.034 0.2331 0.18 0.31 0.13 0.04 0.1634 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.650108 NA NA 0.176977 0.055606 NA 0.109 NA 3.8170563 1270 16 3142009 3142009 C T intronic ZSCAN10 NA NA NA intronic ENSG00000130182 NA NA NA NA NA 16p13.3 NA NA NA NA rs72772563 0.07 0.07 0.071 0.0555112 0.0567 0.131 0.049 0.0068 0.047 0.06 0.15 0.06 0.01 0.0663 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49337 NA NA 0.060405 0.020482 NA 0.043 NA 3.816595 1270 19 44423981 44423981 T C intronic ZNF45 NA NA NA ncRNA_intronic ENSG00000267191 NA NA NA NA NA 19q13.31 NA NA NA NA rs384329 0.57 0.57 0.553 0.528554 0.5169 0.7996 0.6499 0.3343 0.4376 0.51 0.82 0.58 0.38 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042729 NA NA NA NA NA 0.5 NA 3.8164333 1270 6 36944902 36944902 T C intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs9296205 0.1 0.1 0.082 0.118411 0.0895 0.0317 0.1124 0.1679 0.1748 0.08 0.04 0.11 0.19 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044474 NA NA 0.09428 0.156792 NA 0.138 NA 3.81622 1270 1 171509014 171509014 T C intronic PRRC2C NA NA NA intronic ENSG00000117523 NA NA NA NA NA 1q24.3 NA NA NA NA rs12734261 0.12 0.12 0.123 0.133586 0.1839 0.0625 0.1182 0.1301 0.1708 0.19 0.04 0.13 0.12 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370917 NA NA NA NA NA 0.094 NA 3.8161 1270 3 37583851 37583851 A C intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA NA NA 3p22.2 NA NA NA NA rs2844349 0.12 0.12 0.118 0.0978435 0.1839 0.0823 0.085 0.0159 0.1452 0.19 0.1 0.11 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053759 NA NA NA NA NA 0.181 NA 3.8161 1270 4 16590223 16590223 G C intronic LDB2 NA NA NA intronic ENSG00000169744 NA NA NA NA NA 4p15.32 NA NA NA NA rs906122 0.3 0.3 0.289 0.291134 0.1839 0.4306 0.3228 0.2625 0.274 0.19 0.46 0.3 0.27 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727705 NA NA NA NA NA 0.225 NA 3.8161 1270 4 129770068 129770068 C T intronic PHF17 NA NA NA intronic ENSG00000077684 NA NA NA NA NA 4q28.2 NA NA NA NA rs11098988 0.15 0.15 0.127 0.159145 0.1839 0.0933 0.1772 0.1233 0.2372 0.19 0.1 0.2 0.13 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832027 NA NA NA NA NA 0.109 NA 3.8161 1270 9 100353801 100353801 G T intronic TMOD1 NA NA NA intronic ENSG00000136842 NA NA NA NA NA 9q22.33 NA NA NA NA rs2805792 0.19 0.19 0.198 0.215056 0.1839 0.0556 0.1888 0.4009 0.1789 0.18 0.03 0.16 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821737 NA NA NA NA NA 0.167 NA 3.8161 1270 16 57111364 57111364 G C intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs34702866 0.26 0.26 0.237 0.281749 0.1839 0.369 0.2781 0.2784 0.2996 0.18 0.35 0.25 0.27 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.675737 1.675737 NA NA NA NA 0.21 NA 3.8161 1270 20 25434351 25434351 A G intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs2072975 0.2 0.2 0.186 0.167133 0.1839 0.3552 0.134 0.0643 0.1186 0.19 0.35 0.16 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732453 NA NA NA NA NA 0.109 NA 3.8161 1270 10 55591313 55591313 G A intronic PCDH15 NA NA NA intronic ENSG00000150275 NA NA NA NA NA 10q21.1 NA NA NA NA rs7089209 0.46 0.46 0.438 0.440296 0.3678 0.7232 0.4236 0.2474 0.4959 0.36 0.77 0.38 0.3 0.4331 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857265 NA NA 0.383023 0.29337 NA 0.283 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039735.1;CLNDSDB=.;CLNDSDBID=. 3.816077 1270 17 18863979 18863979 G C intronic SLC5A10 NA NA NA intronic ENSG00000154025 NA NA NA NA NA 17p11.2 NA NA NA NA rs2074274 0.17 0.17 0.161 0.242212 0.0338 0.0992 0.0821 0.5507 0.3006 0.02 0.11 0.09 0.51 0.1125 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645791 NA NA 0.037674 0.461189 NA 0.21 NA 3.816026 1270 17 61565998 61565998 A C intronic ACE NA NA NA UTR3 ENSG00000159640 ENST00000579314:c.*24A>C,ENST00000579204:c.*443A>C NA NA NA NA 17q23.3 NA Name=SRF NA NA rs4342 0.52 0.52 0.423 0.529952 0.4254 0.6746 0.5692 0.413 0.6186 0.43 0.69 0.56 0.43 0.4996 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919466 NA NA 0.426047 0.396959 NA 0.507 NA 3.8156197 1270 2 74758934 74758934 G A intronic HTRA2 NA NA NA intronic ENSG00000115317 NA NA NA NA NA 2p13.1 NA NA NA NA rs2241028 0.08 0.08 0.075 0.0682907 0.0666 0.1478 0.0519 0.0076 0.0818 0.07 0.16 0.05 0.01 0.0619 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.158596 NA NA 0.056047 0.01566 NA 0.036 NA 3.815453 1270 8 87517201 87517201 A G intronic RMDN1 NA NA NA ncRNA_exonic ENSG00000254088 NA NA NA NA NA 8q21.3 NA NA NA NA rs7463186 0.52 0.52 0.485 0.515575 0.5179 0.5823 0.6455 0.3616 0.5603 0.53 0.59 0.63 0.36 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.191292 NA NA NA NA NA 0.391 NA 3.8154333 1270 1 2234903 2234903 C T intronic SKI NA NA NA intronic ENSG00000157933 NA NA NA NA NA 1p36.33 NA NA NA NA rs2256178 0.24 0.24 0.231 0.269169 0.1849 0.3026 0.3429 0.2277 0.3252 0.18 0.29 0.32 0.22 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204957 NA NA NA NA NA 0.29 NA 3.8151 1270 12 104032074 104032074 A G intronic STAB2 NA NA NA intronic ENSG00000136011 NA NA NA NA NA 12q23.3 NA NA NA NA rs1582876 0.21 0.21 0.192 0.241014 0.1849 0.2956 0.2061 0.1074 0.4479 0.19 0.31 0.2 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728726 NA NA NA NA NA 0.145 NA 3.8151 1270 14 24771080 24771080 T C intronic NOP9 NA NA NA intronic ENSG00000196943 NA NA NA NA NA 14q12 NA NA NA NA rs4374085 0.16 0.16 0.142 0.157947 0.1849 0.004 0.3487 0.1861 0.1155 0.2 0.01 0.3 0.18 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236262 NA NA NA NA NA 0.159 NA 3.8151 1270 14 24771101 24771101 C T intronic NOP9 NA NA NA intronic ENSG00000196943 NA NA NA NA NA 14q12 NA NA NA NA rs4366641 0.15 0.15 0.133 0.150359 0.1849 0.004 0.3473 0.1581 0.1155 0.2 0.01 0.3 0.15 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37345 NA NA NA NA NA 0.13 NA 3.8151 1270 15 91194691 91194691 C T intergenic CRTC3,BLM dist=6114;dist=65888 NA NA ncRNA_intronic ENSG00000259736 NA NA NA NA NA 15q26.1 NA NA NA NA rs35907368 0.15 0.15 0.146 0.165136 0.1849 0.1974 0.1052 0.1551 0.1677 0.18 0.13 0.11 0.15 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03305 NA NA NA NA NA 0.058 NA 3.8151 1270 19 10084124 10084124 C T intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs73003459 0.15 0.15 0.152 0.124002 0.1849 0.2202 0.121 0.0068 0.1227 0.18 0.25 0.14 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.827413 NA NA NA NA NA 0.13 NA 3.8151 1270 19 35452045 35452045 A C intronic ZNF792 NA NA NA intronic ENSG00000180884 NA NA NA NA NA 19q13.11 NA NA NA NA rs2546026 0.2 0.2 0.199 0.206669 0.1849 0.1577 0.0821 0.3268 0.2055 0.18 0.17 0.1 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466422 NA NA NA NA NA 0.159 NA 3.8151 1270 20 25257215 25257215 G A intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2254046 0.2 0.2 0.186 0.165935 0.1849 0.3552 0.1354 0.0658 0.1084 0.19 0.35 0.16 0.08 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619413 NA NA NA NA NA 0.08 NA 3.8151 1270 19 9027313 9027313 A G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs62118276 0.04 0.04 0.021 0.0489217 0.0606 0.005 0.072 0.0166 0.1094 0.06 0.0035 0.08 0.01 0.066 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013427 NA NA 0.058363 0.018337 NA 0.022 NA 3.815037 1270 11 102398436 102398436 C T intronic MMP7 NA NA NA intronic ENSG00000137673 NA NA NA NA NA 11q22.2 NA NA NA NA rs78978042 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607035 NA NA NA NA NA 0.145 NA 3.815 1271 12 50535955 50535955 C T intronic CERS5 NA NA NA ncRNA_intronic ENSG00000272368 NA NA NA NA NA 12q13.12 NA NA NA NA rs10747571 0.38 0.38 0.372 0.377196 0.2525 0.7242 0.3963 0.2065 0.365 0.26 0.71 0.34 0.21 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.058938 NA NA 0.265871 0.21026 NA 0.254 NA 3.8149623 1271 1 12016957 12016957 T G intronic PLOD1 NA NA NA intronic ENSG00000083444 NA NA NA NA NA 1p36.22 NA NA NA NA rs41307745 0.07 0.07 0.065 0.076877 0.0606 0.1587 0.0317 0.0038 0.1401 0.07 0.15 0.04 0.01 0.0708 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808068 NA NA 0.05407 0.009986 NA 0.036 NA 3.81453 1271 19 10096616 10096616 G C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs28539329 0.07 0.07 0.066 0.081869 0.0606 0.0159 0.0908 0.1649 0.0532 0.06 0.02 0.08 0.15 0.0685 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.921575 2.921575 NA 0.056395 0.144349 NA 0.138 NA 3.814505 1271 4 48854139 48854139 T C intronic OCIAD1 NA NA NA ncRNA_exonic ENSG00000248256 NA NA NA NA NA 4p11 NA NA NA NA rs2572345 0.46 0.46 0.423 0.401158 0.5189 0.4613 0.6282 0.1641 0.3773 0.52 0.5 0.67 0.18 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.334133 1.334133 NA NA NA NA 0.312 NA 3.8144333 1271 1 120384205 120384205 A G exonic NBPF7 NA synonymous SNV NBPF7:NM_001047980:exon3:c.T357C:p.V119V ncRNA_exonic ENSG00000215864 NA NA NA NA NA 1p12 NA NA Name=8 NA rs2994820 0.6 0.6 0.61 0.625 0.8121 0.4673 0.7118 0.3979 0.8405 0.77 0.5 0.72 0.38 0.7496 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049979 NA NA 0.7906 0.453019 NA 0.101 NA 3.8143666 1271 3 42771791 42771791 C T intronic CCDC13 NA NA NA intronic ENSG00000244607 NA NA NA NA NA 3p22.1 NA NA NA NA rs13085272 0.18 0.18 0.196 0.184305 0.1859 0.1081 0.1744 0.1747 0.2812 0.19 0.12 0.19 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.9032 NA NA NA NA NA 0.196 NA 3.8141 1271 6 33658552 33658552 C A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs34778247 0.1 0.1 0.091 0.071885 0.1859 0.0169 0.1225 0.0129 0.0552 0.19 0.02 0.12 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678182 NA NA NA NA NA 0.08 NA 3.8141 1271 6 33696131 33696131 C T intronic IP6K3 NA NA NA intronic ENSG00000161896 NA NA NA NA NA 6p21.31 NA NA NA NA rs13204162 0.11 0.11 0.103 0.0832668 0.1859 0.0496 0.1455 0.0129 0.0634 0.19 0.06 0.12 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290494 NA NA NA NA NA 0.08 NA 3.8141 1271 7 909252 909252 G A intronic SUN1 NA NA NA intronic ENSG00000164828 NA NA NA NA NA 7p22.3 NA NA NA NA rs74714510 0.17 0.17 0.144 0.173522 0.1859 0.1369 0.2392 0.0961 0.2566 0.18 0.16 0.24 0.1 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123833 NA NA NA NA NA 0.13 NA 3.8141 1271 9 72082970 72082970 C A intronic APBA1 NA NA NA intronic ENSG00000107282 NA NA NA NA NA 9q21.11 NA NA NA NA rs10867613 0.16 0.16 0.146 0.169129 0.1859 0.0982 0.2522 0.149 0.1933 0.19 0.08 0.27 0.12 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364289 NA NA NA NA NA 0.109 NA 3.8141 1271 10 13248028 13248028 T G intronic MCM10 NA NA NA intronic ENSG00000065328 NA NA NA NA NA 10p13 NA NA NA NA rs3802574 0.22 0.22 0.19 0.217053 0.1859 0.3085 0.2334 0.1921 0.1769 0.2 0.3 0.2 0.17 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282014 NA NA NA NA NA 0.159 NA 3.8141 1271 11 6478384 6478384 C T intronic TRIM3 NA NA NA intronic ENSG00000110171 NA NA NA NA NA 11p15.4 NA NA NA NA rs11605141 0.16 0.16 0.175 0.188099 0.1859 0.0188 0.1772 0.298 0.2239 0.19 0.02 0.15 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001357 NA NA NA NA NA 0.297 NA 3.8141 1271 11 105732687 105732687 C T intronic GRIA4 NA NA NA intronic ENSG00000152578 NA NA NA NA NA 11q22.3 NA NA NA NA rs2277280 0.27 0.27 0.27 0.280751 0.1859 0.1458 0.3242 0.5651 0.1022 0.18 0.13 0.31 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.778823 1.778823 NA NA NA NA 0.283 NA 3.8141 1271 12 50385663 50385663 T C intronic RACGAP1 NA NA NA intronic ENSG00000161800 NA NA NA NA NA 12q13.12 NA NA NA NA rs7136233 0.13 0.13 0.106 0.113618 0.1859 0.131 0.1801 0.0121 0.1115 0.18 0.12 0.18 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250252 NA NA NA NA NA 0.101 NA 3.8141 1271 15 32912511 32912511 C A intronic ARHGAP11A NA NA NA intronic ENSG00000198826 NA NA NA NA NA 15q13.3 NA NA NA NA rs62001760 0.22 0.22 0.105 0.186302 0.1859 0.3224 0.1326 0.0083 0.3252 0.25 0.4 0.15 0.02 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067533 NA NA NA NA NA 0.014 NA 3.8141 1271 20 25271033 25271033 C G intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2258053 0.2 0.2 0.15 0.164137 0.1859 0.3522 0.1297 0.0522 0.1237 0.19 0.35 0.16 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244864 NA NA NA NA NA 0.094 NA 3.8141 1271 22 18910545 18910545 C T intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA NA NA rs2277834 0.25 0.25 0.261 0.238618 0.1859 0.1855 0.2853 0.3994 0.0971 0.18 0.2 0.28 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686902 NA NA NA NA NA 0.297 NA 3.8141 1271 5 79086903 79086903 G A intronic CMYA5 NA NA NA ncRNA_intronic ENSG00000250258 NA NA NA NA NA 5q14.1 NA NA NA NA rs10052867 0.15 0.15 0.147 0.171925 0.173 0.0228 0.1455 0.2769 0.2014 0.17 0.02 0.16 0.27 0.1794 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.08052 NA NA 0.167102 0.249636 ID=COSN167507;OCCURENCE=1(large_intestine) 0.159 NA 3.8138313 1271 2 16734295 16734295 A G intronic FAM49A NA NA NA intronic ENSG00000197872 NA NA NA NA NA 2p24.2 NA NA NA NA rs114377299 0.04 0.04 0.04 0.0313498 0.0696 NA 0.0447 0.0189 0.0317 0.06 NA 0.05 0.04 0.0482 0.068 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.205167 2.205167 NA 0.068372 0.03064 NA 0.036 NA 3.813828 1271 10 97165811 97165811 G A intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA NA NA 10q24.1 NA NA NA NA rs3818540 0.22 0.22 0.214 0.230232 0.1004 0.4216 0.134 0.2655 0.1871 0.1 0.43 0.14 0.22 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543862 NA NA 0.085795 0.217486 NA 0.275 NA 3.813805 1271 8 145008931 145008931 G C intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA Name=3 NA rs6994460 0.38 0.38 0.419 0.393371 0.4115 0.1389 0.3271 0.6467 0.3415 0.4 0.15 0.33 0.66 0.3805 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.176081 NA NA 0.394351 0.601338 NA 0.478 NA 3.813649 1271 20 44472163 44472163 C T intronic ACOT8 NA NA NA intronic ENSG00000101473 NA NA NA Score=608;Name=lod=395 NA 20q13.12 NA NA NA NA rs55931834 0.2 0.2 0.185 0.171126 0.4274 0.002 0.2378 0.0507 0.1973 0.43 NA 0.25 0.05 0.3405 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.304436 1.304436 NA 0.418488 0.120517 NA 0.239 NA 3.813612 1271 12 88582603 88582603 T G intronic TMTC3 NA NA NA intronic ENSG00000139324 NA NA NA NA NA 12q21.32 NA NA NA NA rs12296370 0.11 0.11 0.117 0.126398 0.0537 0.0089 0.0735 0.3253 0.091 0.06 0.0035 0.08 0.33 0.0763 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021062 NA NA 0.056593 0.284158 NA 0.181 NA 3.813407 1271 13 99091147 99091147 G A intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs7984446 0.07 0.07 0.097 0.0692891 0.0567 0.0357 0.062 0.1142 0.0613 0.06 0.04 0.07 0.12 0.0668 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426568 NA NA 0.06314 0.121879 NA 0.087 NA 3.81336 1271 11 14810762 14810762 A G exonic PDE3B NA synonymous SNV PDE3B:NM_000922:exon4:c.A1389G:p.R463R exonic ENSG00000152270 NA synonymous SNV ENSG00000152270:ENST00000282096:exon4:c.A1389G:p.R463R,ENSG00000152270:ENST00000455098:exon4:c.A1236G:p.R412R NA NA 11p15.2 NA NA NA NA rs4757268 0.65 0.65 0.63 0.671326 0.6173 0.6806 0.7017 0.708 0.6462 0.59 0.67 0.68 0.67 0.6291 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095526 NA NA 0.60701 0.677045 ID=COSM147149;OCCURENCE=1(stomach) 0.652 NA 3.8132566 1271 2 69049398 69049398 C G intronic ARHGAP25 NA NA NA intronic ENSG00000163219 NA NA NA NA NA 2p13.3 NA NA NA NA rs35216182 0.25 0.25 0.248 0.266573 0.1869 0.4435 0.317 0.174 0.2556 0.19 0.39 0.3 0.16 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254662 NA NA NA NA NA 0.174 NA 3.8131 1271 6 106681990 106681990 G A intronic ATG5 NA NA NA intronic ENSG00000057663 NA NA NA NA NA 6q21 NA NA NA NA rs77791277 0.1 0.1 0.067 0.108227 0.1869 0.0317 0.0994 0.053 0.1871 0.19 0.02 0.1 0.05 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681583 NA NA NA NA NA 0.138 NA 3.8131 1271 7 38782944 38782944 A G intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA NA NA 7p14.1 NA NA NA NA rs11971020 0.28 0.28 0.276 0.334665 0.1869 0.4395 0.1225 0.385 0.4611 0.19 0.44 0.15 0.35 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952502 NA NA NA NA NA 0.246 NA 3.8131 1271 10 39011152 39011152 G A intergenic ACTR3BP5,NONE dist=19781;dist=NONE NA NA ncRNA_intronic ENSG00000234541 NA NA NA NA NA 10p11.1 NA NA NA NA rs2310211 0.23 0.23 0.206 0.223043 0.1869 0.2907 0.2349 0.2542 0.1401 0.18 0.27 0.25 0.23 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647125 NA NA NA NA NA 0.007 NA 3.8131 1271 10 126691471 126691471 G A intronic CTBP2 NA NA NA intronic ENSG00000175029 NA NA NA NA NA 10q26.13 NA NA NA NA rs4348846 0.32 0.32 0.297 0.315096 0.1869 0.252 0.3588 0.5787 0.1247 0.19 0.3 0.34 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611093 NA NA NA NA NA 0.275 NA 3.8131 1271 14 65392918 65392918 G A intronic CHURC1,CHURC1-FNTB NA NA NA intronic ENSG00000125954,ENSG00000258289 NA NA NA NA NA 14q23.3 NA NA NA NA rs2147615 0.22 0.22 0.223 0.25599 0.1869 0.128 0.196 0.4123 0.2904 0.18 0.13 0.21 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53178 NA NA NA NA NA 0.239 NA 3.8131 1271 20 3262493 3262493 T C intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA NA NA rs6051708 0.19 0.19 0.194 0.186502 0.1869 0.1438 0.1744 0.2458 0.1585 0.18 0.16 0.14 0.25 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695992 NA NA NA NA NA 0.246 NA 3.8131 1271 20 3270621 3270621 C T intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA NA NA rs6037535 0.18 0.18 0.189 0.178714 0.1869 0.1379 0.1729 0.2216 0.1585 0.18 0.16 0.14 0.24 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426242 NA NA NA NA NA 0.239 NA 3.8131 1271 20 34446395 34446395 A G intronic PHF20 NA NA NA intronic ENSG00000025293 NA NA NA NA NA 20q11.23 NA NA NA NA rs2425178 0.23 0.23 0.235 0.291134 0.1869 0.1835 0.1859 0.4281 0.3988 0.18 0.16 0.22 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283548 NA NA NA NA NA 0.239 NA 3.8131 1271 20 40827713 40827713 A T intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs6072653 0.11 0.11 0.105 0.121605 0.1869 0.0079 0.1427 0.1021 0.183 0.18 0.01 0.13 0.1 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034534 NA NA NA NA NA 0.08 NA 3.8131 1271 20 61369472 61369472 T C intronic NTSR1 NA NA NA intronic ENSG00000101188 NA NA NA NA NA 20q13.33 NA NA NA NA rs3915568 0.15 0.15 0.122 0.13758 0.1869 0.1647 0.2305 0.0106 0.1646 0.19 0.16 0.22 0.01 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090997 NA NA NA NA NA 0.065 NA 3.8131 1271 14 96777408 96777408 T C intronic ATG2B NA NA NA intronic ENSG00000066739 NA NA NA NA NA 14q32.2 NA NA Name=3 NA rs3759602 0.3 0.3 0.27 0.2502 0.4066 0.1786 0.4582 0.1142 0.1994 0.42 0.21 0.44 0.1 0.3581 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.983367 NA NA 0.422442 0.172038 NA 0.312 NA 3.812858 1271 1 220321023 220321023 A G UTR3 IARS2 NM_018060:c.*46A>G NA NA UTR3 ENSG00000067704 ENST00000366922:c.*46A>G,ENST00000302637:c.*46A>G NA NA NA NA 1q41 NA NA NA NA rs11095 0.14 0.14 0.122 0.126797 0.1541 0.1329 0.2493 0.0182 0.1524 0.15 0.17 0.22 0.03 0.1836 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694831 NA NA 0.182791 0.047889 NA 0.058 NA 3.8128424 1271 1 37978999 37978999 A C intronic MEAF6 NA NA NA intronic ENSG00000163875 NA NA NA NA NA 1p34.3 NA NA NA NA rs72657778 0.03 0.03 0.012 0.0225639 0.0547 0.0079 0.0202 0.0023 0.0337 0.06 0.0035 0.02 0.0041 0.0542 0.079 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.634205 3.634205 NA 0.078488 0.017703 NA 0.029 NA 3.812612 1271 6 90826709 90826709 T C intronic BACH2 NA NA NA ncRNA_exonic ENSG00000218730 NA NA NA NA NA 6q15 NA NA NA NA rs207268 0.48 0.48 0.458 0.509185 0.5209 0.2212 0.6167 0.6346 0.5481 0.51 0.23 0.59 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129448 NA NA NA NA NA 0.507 NA 3.8124333 1271 9 140331797 140331797 G A intronic ENTPD8 NA NA NA intronic ENSG00000188833 NA NA NA NA NA 9q34.3 NA NA NA NA rs61303368 0.08 0.08 0.073 0.0850639 0.0616 0.1389 0.0389 0.1248 0.0327 0.06 0.13 0.04 0.1 0.0676 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.013184 NA NA 0.058399 0.110656 NA 0.072 NA 3.812401 1271 8 145007534 145007534 C T intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA Name=12 NA rs7003580 0.39 0.39 0.424 0.398363 0.4125 0.1478 0.3256 0.6596 0.3405 0.4 0.16 0.33 0.68 0.3804 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306729 NA NA 0.394861 0.610075 NA 0.486 NA 3.812239 1271 16 17228368 17228368 G A exonic XYLT1 NA synonymous SNV XYLT1:NM_022166:exon9:c.C1989T:p.A663A exonic ENSG00000103489 NA synonymous SNV ENSG00000103489:ENST00000261381:exon9:c.C1989T:p.A663A NA NA 16p12.3 NA NA NA NA rs12708815 0.4 0.4 0.382 0.365415 0.6471 0.1032 0.5346 0.1936 0.4581 0.65 0.11 0.61 0.2 0.5569 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.018856 2.018856 NA 0.650465 0.282658 NA 0.413 NA 3.8122016 1271 1 15812665 15812665 G T intronic CELA2B NA NA NA intronic ENSG00000215704 NA NA NA NA NA 1p36.21 NA NA NA NA rs2861484 0.16 0.16 0.15 0.158746 0.1879 0.0456 0.1585 0.2027 0.1861 0.19 0.05 0.2 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.964143 NA NA NA NA NA 0.123 NA 3.8121 1271 1 22336120 22336120 T C intronic CELA3A NA NA NA intronic ENSG00000142789 NA NA NA NA NA 1p36.12 NA NA NA NA rs4344303 0.29 0.29 0.25 0.280751 0.1879 0.4008 0.4078 0.2398 0.2178 0.2 0.37 0.38 0.25 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908818 NA NA NA NA NA 0.261 NA 3.8121 1271 6 20042802 20042802 T C intergenic ID4,MBOAT1 dist=200371;dist=57114 NA NA ncRNA_exonic ENSG00000229700 NA NA NA NA NA 6p22.3 NA NA NA NA rs11757690 0.18 0.18 0.168 0.170927 0.1879 0.1101 0.196 0.1846 0.18 0.19 0.12 0.2 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022487 NA NA NA NA NA 0.217 NA 3.8121 1271 9 93514242 93514242 G A intergenic DIRAS2,SYK dist=109134;dist=49770 NA NA ncRNA_exonic ENSG00000270432 NA NA NA NA NA 9q22.2 NA NA NA NA rs12380216 0.09 0.09 0.086 0.0792732 0.1879 0.0188 0.1052 0.0189 0.093 0.18 0.02 0.12 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080249 NA NA NA NA NA 0.13 NA 3.8121 1271 2 182359592 182359592 T C intronic ITGA4 NA NA NA intronic ENSG00000115232 NA NA NA NA NA 2q31.3 NA NA NA NA rs16867434 0.13 0.13 0.12 0.119409 0.1014 0.0476 0.1873 0.2216 0.0256 0.1 0.06 0.16 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.402692 NA NA 0.086587 0.20737 NA 0.116 NA 3.812013 1271 13 96579462 96579462 T C intronic UGGT2 NA NA NA intronic ENSG00000102595 NA NA NA Score=476;Name=lod=115 NA 13q32.1 NA NA NA NA rs9525086 0.36 0.36 0.333 0.353435 0.3777 0.4702 0.4438 0.1762 0.3834 0.38 0.47 0.4 0.16 0.4005 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.238221 2.238221 NA 0.409916 0.221062 NA 0.312 NA 3.811884 1271 15 101529054 101529054 G A intronic LRRK1 NA NA NA intronic ENSG00000154237 NA NA NA NA NA 15q26.3 NA NA NA NA rs75154381 0.03 0.03 0.029 0.0361422 0.0696 0.001 0.0447 0.0068 0.0716 0.07 0.0017 0.06 0.0041 0.0545 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939235 NA NA 0.064112 0.015403 NA 0.043 NA 3.811788 1271 19 20295146 20295146 G A intronic ZNF486 NA NA NA ncRNA_intronic ENSG00000267383 NA NA NA NA NA 19p12 NA NA NA NA rs1097510 0.28 0.28 0.271 0.288538 0.1481 0.4593 0.3112 0.2663 0.271 0.15 0.5 0.27 0.24 0.2248 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.953698 NA NA 0.148699 0.247981 NA 0.254 NA 3.8117343 1271 18 29426649 29426649 A G intronic TRAPPC8 NA NA NA intronic ENSG00000153339 NA NA NA NA NA 18q12.1 NA NA NA NA rs76349894 0.05 0.05 0.045 0.0473243 0.0636 0.0109 0.0447 0.0666 0.044 0.07 0.01 0.03 0.08 0.0581 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224542 NA NA 0.06686 0.064685 NA 0.051 NA 3.81144 1271 19 51767485 51767485 A G intronic SIGLECL1 NA NA NA ncRNA_intronic ENSG00000268595 NA NA NA NA NA 19q13.41 NA NA NA NA rs875283 0.6 0.6 0.575 0.594449 0.5219 0.5139 0.7161 0.8192 0.362 0.52 0.48 0.67 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374608 NA NA NA NA NA 0.638 NA 3.8114333 1271 2 202589257 202589257 T C intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA NA NA 2q33.1 NA NA NA NA rs3219163 0.26 0.26 0.263 0.296526 0.1889 0.3859 0.1239 0.3071 0.4233 0.21 0.38 0.1 0.33 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764217 NA NA NA NA NA 0.239 NA 3.8111 1271 6 2785112 2785112 G A intronic WRNIP1 NA NA NA intronic ENSG00000124535 NA NA NA NA NA 6p25.2 NA NA NA NA rs160701 0.2 0.2 0.167 0.204673 0.1889 0.3115 0.2176 0.0582 0.2996 0.19 0.34 0.19 0.05 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856558 NA NA NA NA NA 0.138 NA 3.8111 1271 8 143832373 143832373 G A intronic LYPD2 NA NA NA intronic ENSG00000197353 NA NA NA NA NA 8q24.3 NA NA NA NA rs10808680 0.26 0.26 0.262 0.270367 0.1889 0.4048 0.1671 0.2806 0.2751 0.19 0.4 0.17 0.26 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116057 NA NA NA NA NA 0.246 NA 3.8111 1271 13 31821093 31821093 T C intronic B3GALTL NA NA NA intronic ENSG00000187676 NA NA NA NA NA 13q12.3 NA NA NA NA rs9542300 0.25 0.25 NA 0.189297 0.1889 0.2083 0.1628 0.1407 0.2546 0.27 0.28 0.19 0.23 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491916 NA NA NA NA NA 0.261 NA 3.8111 1271 14 20760349 20760349 G A intronic TTC5 NA NA NA intronic ENSG00000136319 NA NA NA NA NA 14q11.2 NA NA NA NA rs11625081 0.1 0.1 0.077 0.123003 0.1889 0.1091 0.0908 0.0378 0.2076 0.16 0.09 0.09 0.03 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578154 NA NA NA NA NA NA NA 3.8111 1271 14 20760350 20760350 C A intronic TTC5 NA NA NA intronic ENSG00000136319 NA NA NA NA NA 14q11.2 NA NA NA NA rs11628513 0.1 0.1 0.079 0.123003 0.1889 0.1091 0.0908 0.0378 0.2076 0.16 0.09 0.09 0.03 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076093 NA NA NA NA NA NA NA 3.8111 1271 9 137716422 137716422 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs45443491 0.03 0.03 0.028 0.019369 0.0616 NA 0.0303 NA 0.0143 0.07 NA 0.03 NA 0.0499 0.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303922 NA NA 0.077442 0.01317 NA 0.072 NA 3.811058 1271 8 133975183 133975183 A G intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs76745731 0.06 0.06 0.054 0.0852636 0.0865 0.0407 0.1052 0.0681 0.1391 0.08 0.03 0.11 0.04 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05559 NA NA 0.102451 0.070809 NA 0.116 NA 3.811049 1271 7 2966334 2966334 G A intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs41448444 0.03 0.03 0.032 0.0239617 0.0716 0.001 0.0461 0.0038 0.0102 0.06 0.0017 0.05 0.01 0.0491 0.068 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608092 NA NA 0.068256 0.012483 NA 0.036 NA 3.811044 1271 21 43240446 43240446 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs73375539 0.09 0.09 0.106 0.123403 0.0477 0.005 0.062 0.3033 0.1237 0.05 0.0017 0.07 0.29 0.0809 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943914 NA NA 0.06093 0.262596 NA 0.109 NA 3.81047 1271 1 115110683 115110683 A C UTR3 BCAS2 NM_005872:c.*68T>G NA NA UTR3 ENSG00000116752 ENST00000369541:c.*68T>G NA NA NA NA 1p13.2 NA NA NA NA rs8128 0.49 0.49 0.448 0.470048 0.5229 0.499 0.4813 0.4788 0.3661 0.52 0.46 0.5 0.46 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522362 NA NA NA NA ID=COSN163195;OCCURENCE=1(breast) 0.551 NA 3.8104334 1271 6 160211554 160211554 T G UTR5 MRPL18 NM_014161:c.-66T>G NA NA UTR5 ENSG00000112110 ENST00000367034:c.-66T>G NA NA NA NA 6q25.3 NA Name=YY1,Pol2-4H8,Pbx3,Sin3Ak-20,Pol2(b),THAP1_(SC-98174),IRF1,TBP,HEY1,IRF3,SRF,SP1,NRSF,Pol2,YY1_(C-20),NF-YA,TAF1,GABP,CHD2_(N-1250),GTF2F1_(RAP-74),ELF1_(SC-631),NF-YB NA NA rs1128661 0.66 0.66 0.624 0.664936 0.7575 0.5873 0.8285 0.4818 0.7812 0.77 0.57 0.81 0.5 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.410242 1.410242 NA 0.765556 0.528179 NA 0.514 NA 3.8102774 1271 15 42445554 42445554 G T intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs10220859 0.15 0.15 0.142 0.190495 0.0427 0.1121 0.2925 0.357 0.1258 0.04 0.09 0.23 0.34 0.0994 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008086 NA NA 0.047686 0.31094 NA 0.174 NA 3.810214 1271 3 180491061 180491061 T C intergenic CCDC39,FXR1 dist=93778;dist=139173 NA NA ncRNA_exonic ENSG00000242068 NA NA NA NA NA 3q26.33 NA NA NA NA rs4277689 0.37 0.37 0.377 0.417133 0.1899 0.4196 0.2911 0.7035 0.3507 0.19 0.41 0.28 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809876 NA NA NA NA NA 0.333 NA 3.8101 1271 4 47562820 47562820 T C intronic ATP10D NA NA NA intronic ENSG00000145246 NA NA NA NA NA 4p12 NA NA NA NA rs73237101 0.1 0.1 0.08 0.0772764 0.1899 0.0079 0.0865 0.0272 0.0941 0.2 0.01 0.11 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269579 NA NA NA NA NA 0.036 NA 3.8101 1271 11 62545346 62545346 T C intronic TAF6L NA NA NA intronic ENSG00000162227,ENSG00000168569 NA NA NA NA NA 11q12.3 NA NA NA NA rs633742 0.24 0.24 0.244 0.251398 0.1899 0.3363 0.1729 0.2784 0.2464 0.19 0.31 0.19 0.28 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707924 NA NA NA NA NA 0.268 NA 3.8101 1271 11 65978396 65978396 A G intronic PACS1 NA NA NA intronic ENSG00000175115 NA NA NA NA NA 11q13.2 NA NA NA NA rs10791858 0.21 0.21 0.193 0.221046 0.1899 0.2946 0.1715 0.2352 0.1933 0.19 0.28 0.17 0.18 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765001 NA NA NA NA NA 0.239 NA 3.8101 1271 11 65978453 65978453 C T intronic PACS1 NA NA NA intronic ENSG00000175115 NA NA NA NA NA 11q13.2 NA NA NA NA rs10791859 0.21 0.21 0.199 0.221046 0.1899 0.2946 0.1715 0.2352 0.1933 0.19 0.28 0.17 0.18 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701741 NA NA NA NA NA 0.232 NA 3.8101 1271 11 117090545 117090545 T C intronic PCSK7 NA NA NA intronic ENSG00000160613 NA NA NA NA NA 11q23.3 NA NA NA NA rs3882895 0.24 0.24 0.264 0.279952 0.1899 0.1528 0.2738 0.4622 0.2618 0.18 0.19 0.22 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938382 NA NA NA NA NA 0.196 NA 3.8101 1271 12 47170621 47170621 C A intronic SLC38A4 NA NA NA intronic ENSG00000139209 NA NA NA NA NA 12q13.11 NA NA NA NA rs12316767 0.17 0.17 0.164 0.176318 0.1899 0.1438 0.1138 0.1846 0.229 0.2 0.12 0.14 0.21 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.101632 3.101632 NA NA NA NA 0.21 NA 3.8101 1271 14 100129071 100129071 A G intronic HHIPL1 NA NA NA intronic ENSG00000182218 NA NA NA NA NA 14q32.2 NA NA NA NA rs11160535 0.22 0.22 0.184 0.21845 0.1899 0.2728 0.183 0.2254 0.2076 0.17 0.28 0.19 0.24 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232018 NA NA NA NA NA NA NA 3.8101 1271 14 100129072 100129072 T G intronic HHIPL1 NA NA NA intronic ENSG00000182218 NA NA NA NA NA 14q32.2 NA NA NA NA rs10133513 0.21 0.21 0.181 0.21845 0.1899 0.2728 0.183 0.2254 0.2076 0.17 0.27 0.19 0.24 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743744 NA NA NA NA NA NA NA 3.8101 1271 22 37494318 37494318 T C intronic TMPRSS6 NA NA NA intronic ENSG00000187045 NA NA NA NA NA 22q12.3 NA NA NA NA rs732755 0.16 0.16 0.161 0.13758 0.1899 0.1796 0.1182 0.0756 0.138 0.2 0.2 0.14 0.08 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038363 NA NA NA NA NA 0.145 NA 3.8101 1271 22 37494721 37494721 T C intronic TMPRSS6 NA NA NA intronic ENSG00000187045 NA NA NA NA NA 22q12.3 NA NA NA NA rs8139988 0.16 0.16 0.157 0.13758 0.1899 0.1796 0.1182 0.0756 0.138 0.2 0.2 0.14 0.08 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058746 NA NA NA NA NA 0.203 NA 3.8101 1271 10 38682079 38682079 T C ncRNA_intronic SEPT7P9 NA NA NA ncRNA_intronic ENSG00000120555 NA NA NA NA NA 10p11.1 NA NA NA NA rs2754366 0.5 0.5 0.471 0.480431 0.4205 0.5258 0.4899 0.6392 0.274 0.43 0.49 0.46 0.63 0.4361 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300764 NA NA NA NA NA 0.413 NA 3.8100666 1271 9 33469191 33469191 C T intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA NA NA NA rs2777747 0.09 0.09 0.105 0.0910543 0.0626 0.0258 0.0576 0.2398 0.0102 0.05 0.04 0.07 0.22 0.0658 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975784 NA NA 0.061628 0.22719 NA 0.152 NA 3.809972 1271 9 33468728 33468728 T C intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA NA NA NA rs2777748 0.09 0.09 0.093 0.0916534 0.0626 0.0258 0.0591 0.2413 0.0102 0.05 0.04 0.07 0.22 0.0661 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180228 NA NA 0.061512 0.230368 NA 0.152 NA 3.809788 1271 2 160602258 160602258 A G intronic MARCH7 NA NA NA intronic ENSG00000136536 NA NA NA Score=272;Name=lod=17 NA 2q24.2 NA NA NA NA rs59109898 0.32 0.32 0.27 0.258786 0.4175 0.2937 0.5375 0.0325 0.1677 0.43 0.31 0.5 0.04 0.3717 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.563663 2.563663 NA 0.401023 0.084927 NA 0.362 NA 3.809777 1271 15 101552180 101552180 A G intronic LRRK1 NA NA NA intronic ENSG00000154237 NA NA NA NA NA 15q26.3 NA NA NA NA rs72765101 0.03 0.03 0.026 0.0347444 0.0696 NA 0.0418 0.0015 0.0746 0.07 NA 0.06 0.002 0.0529 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324859 NA NA 0.067842 0.011697 NA 0.058 NA 3.809658 1271 19 50463727 50463727 G A intronic SIGLEC11 NA NA NA intronic ENSG00000161640 NA NA NA NA NA 19q13.33 NA NA NA NA rs80184294 0.21 0.21 0.179 NA NA NA NA NA NA 0.15 0.24 0.16 0.29 0.1906 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.544598 2.544598 NA NA NA NA 0.051 NA 3.8094 1271 10 27350056 27350056 G T intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs11015496 0.09 0.09 0.074 0.0972444 0.0626 0.126 0.036 0.1505 0.0746 0.06 0.12 0.06 0.12 0.0709 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637078 NA NA 0.057265 0.133441 NA 0.072 NA 3.809235 1271 10 27349249 27349249 A G intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs7080104 0.09 0.09 0.088 0.0972444 0.0626 0.126 0.036 0.1505 0.0746 0.06 0.12 0.06 0.12 0.0709 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20966 NA NA 0.05728 0.13573 NA 0.072 NA 3.80922 1271 10 125426412 125426412 A G exonic GPR26 NA synonymous SNV GPR26:NM_153442:exon1:c.A489G:p.P163P exonic ENSG00000154478 NA synonymous SNV ENSG00000154478:ENST00000284674:exon1:c.A489G:p.P163P NA NA 10q26.13 NA NA NA NA rs12263344 0.55 0.55 0.566 0.551917 0.6322 0.38 0.5706 0.618 0.544 0.63 0.39 0.58 0.59 0.5897 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327356 NA NA 0.635591 0.63624 ID=COSM1346532;OCCURENCE=1(large_intestine) 0.109 NA 3.8091756 1271 1 160061934 160061934 T C intronic IGSF8 NA NA NA intronic ENSG00000162729 NA NA NA NA NA 1q23.2 NA NA NA NA rs12408242 0.17 0.17 0.139 0.15635 0.1909 0.2262 0.255 0.0197 0.1636 0.2 0.21 0.23 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373439 NA NA NA NA NA 0.283 NA 3.8091 1271 1 160061959 160061959 C T intronic IGSF8 NA NA NA intronic ENSG00000162729 NA NA NA NA NA 1q23.2 NA NA NA NA rs12401728 0.17 0.17 0.135 0.15655 0.1909 0.2262 0.2565 0.0197 0.1636 0.2 0.21 0.23 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679714 NA NA NA NA NA 0.283 NA 3.8091 1271 2 231326201 231326201 C G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs11681514 0.19 0.19 0.154 0.182708 0.1909 0.128 0.2176 0.2277 0.1452 0.18 0.12 0.24 0.22 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842506 NA NA NA NA NA 0.167 NA 3.8091 1271 3 120394521 120394521 T C intronic HGD NA NA NA intronic ENSG00000113924 NA NA NA NA NA 3q13.33 NA NA NA NA rs17140396 0.19 0.19 0.192 0.211062 0.1909 0.0109 0.2536 0.4047 0.1462 0.19 0.01 0.22 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72972 NA NA NA NA NA 0.283 NA 3.8091 1271 4 48494708 48494708 A T intronic ZAR1 NA NA NA intronic ENSG00000182223 NA NA NA NA NA 4p11 NA NA NA NA rs35912975 0.11 0.11 0.105 0.11222 0.1909 0.1081 0.1037 0.0303 0.1524 0.2 0.08 0.09 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642785 NA NA NA NA NA 0.138 NA 3.8091 1271 10 115338615 115338615 A G intronic HABP2 NA NA NA intronic ENSG00000148702 NA NA NA NA NA 10q25.3 NA NA NA NA rs11575684 0.2 0.2 0.188 0.180711 0.1909 0.3095 0.1816 0.115 0.1258 0.17 0.31 0.22 0.12 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171337 NA NA NA NA NA 0.152 NA 3.8091 1271 11 10518585 10518585 A G intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs2071017 0.23 0.23 0.211 0.251797 0.1909 0.4802 0.1369 0.1256 0.3313 0.18 0.43 0.13 0.14 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281519 NA NA NA NA NA 0.254 NA 3.8091 1271 12 21970019 21970019 C T intronic ABCC9 NA NA NA intronic ENSG00000069431 NA NA NA NA NA 12p12.1 NA NA NA NA rs2638441 0.21 0.21 0.206 0.245807 0.1909 0.1468 0.1801 0.357 0.3006 0.18 0.13 0.18 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137118 NA NA NA NA NA 0.21 NA 3.8091 1271 16 20750133 20750133 G A intronic THUMPD1 NA NA NA intronic ENSG00000005187,ENSG00000066654 NA NA NA NA NA 16p12.3 NA NA NA NA rs2301769 0.23 0.23 0.208 0.193091 0.1909 0.4226 0.255 0.0106 0.1616 0.19 0.45 0.27 0.01 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.13108 2.13108 NA NA NA NA 0.167 NA 3.8091 1271 20 34214368 34214368 T C intronic CPNE1 NA NA NA intronic ENSG00000214078 NA NA NA NA NA 20q11.22 NA NA NA NA rs6060516 0.22 0.22 0.222 0.267971 0.1909 0.1359 0.183 0.4077 0.3548 0.19 0.11 0.22 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588865 NA NA NA NA NA 0.254 NA 3.8091 1271 22 20031102 20031102 G A intronic TANGO2 NA NA NA intronic ENSG00000183597 NA NA NA NA NA 22q11.21 NA NA NA NA rs12627769 0.14 0.14 0.121 0.151358 0.1909 0.119 0.1873 0.0915 0.1994 0.18 0.1 0.17 0.08 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632586 NA NA NA NA NA 0.087 NA 3.8091 1271 17 76129910 76129910 A C intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA NA NA NA rs58590476 0.09 0.09 0.081 0.0832668 0.0686 0.0744 0.0548 0.1415 0.0491 0.07 0.08 0.06 0.15 0.0651 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147463 NA NA 0.057249 0.113987 NA 0.065 NA 3.809051 1271 X 1531765 1531765 C G ncRNA_exonic ASMTL-AS1 NA NA NA ncRNA_exonic ENSG00000236017 NA NA NA NA NA Xp22.33 NA NA NA NA rs5948842 0.42 0.42 0.40223 NA NA NA NA NA NA 0.44 0.41 0.43 0.4 0.4333 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365664 NA NA 0.424638 0.421788 NA 0.464 NA 3.8087286 1271 20 20029954 20029954 T C intronic CRNKL1 NA NA NA intronic ENSG00000101343 NA NA NA NA NA 20p11.23 NA NA NA NA rs66621993 0.22 0.22 0.184 0.20607 0.0298 0.5883 0.1873 0.1415 0.0941 0.03 0.59 0.16 0.12 0.1272 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493386 NA NA 0.034559 0.123751 NA 0.116 NA 3.808441 1271 11 119217311 119217311 G A UTR5 C1QTNF5,MFRP NM_015645:c.-6204C>T;NM_031433:c.-88C>T NA NA UTR5 ENSG00000223953,ENSG00000235718,ENSG00000259159 ENST00000445041:c.-6204C>T;ENST00000555262:c.-88C>T,ENST00000449574:c.-88C>T,ENST00000360167:c.-88C>T;ENST00000530681:c.-88C>T NA NA NA NA 11q23.3 NA NA NA NA rs883245 0.57 0.57 0.541 0.583866 0.5249 0.7708 0.5115 0.4395 0.6984 0.52 0.76 0.53 0.44 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17307 NA NA NA NA NA 0.536 NA 3.8084334 1271 X 1531770 1531770 T C ncRNA_exonic ASMTL-AS1 NA NA NA ncRNA_exonic ENSG00000236017 NA NA NA NA NA Xp22.33 NA NA NA NA rs5949004 0.42 0.42 0.39269 NA NA NA NA NA NA 0.44 0.41 0.43 0.4 0.4334 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064791 NA NA 0.424849 0.422335 NA 0.464 NA 3.8084176 1271 1 11735245 11735245 A C intronic MAD2L2 NA NA NA intronic ENSG00000116670 NA NA NA NA NA 1p36.22 NA NA NA NA rs878778 0.16 0.16 0.15 0.149561 0.0457 0.4544 0.0951 0.0015 0.181 0.05 0.49 0.09 0.002 0.1009 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619545 NA NA 0.045 0.011807 ID=COSN162948;OCCURENCE=1(NS) 0.087 NA 3.8084 1271 1 1991123 1991123 G A intronic PRKCZ NA NA NA intronic ENSG00000067606 NA NA NA NA NA 1p36.33 NA NA NA NA rs1878746 0.18 0.18 0.16 0.18151 0.1918 0.253 0.2032 0.0567 0.2505 0.18 0.25 0.2 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141489 NA NA NA NA NA 0.145 NA 3.8082 1271 1 34011533 34011533 C T intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA rs10914742 0.21 0.21 0.203 0.226038 0.1918 0.3294 0.2406 0.1059 0.3067 0.2 0.3 0.2 0.13 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509108 NA NA NA NA NA 0.123 NA 3.8082 1271 3 64145510 64145510 G A intronic PRICKLE2 NA NA NA intronic ENSG00000163637 NA NA NA NA NA 3p14.1 NA NA NA NA rs76720468 0.1 0.1 0.097 0.0890575 0.1918 0.003 0.0951 0.0212 0.1595 0.2 0.0035 0.12 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500279 NA NA NA NA NA 0.109 NA 3.8082 1271 5 167922578 167922578 C T intronic RARS NA NA NA intronic ENSG00000113643 NA NA NA NA NA 5q34 NA NA NA NA rs67012869 0.24 0.24 0.195 0.197085 0.1918 0.2708 0.3372 0.1392 0.1053 0.19 0.33 0.31 0.16 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248425 NA NA NA NA NA 0.174 NA 3.8082 1271 12 21693243 21693243 A T intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA NA NA NA rs1871129 NA NA NA 0.220647 0.1918 0.1984 0.17 0.3185 0.1769 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099384 NA NA NA NA NA NA NA 3.8082 1271 12 21693244 21693244 T A intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA NA NA NA rs1871128 0.19 0.19 NA 0.224042 0.1918 0.1994 0.1715 0.329 0.1779 0.17 0.17 0.16 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423386 NA NA NA NA NA NA NA 3.8082 1271 10 115515120 115515120 G A UTR5 PLEKHS1 NM_001193435:c.-12024G>A,NM_001193434:c.-12024G>A NA NA UTR5 ENSG00000148735 ENST00000369312:c.-12024G>A NA NA NA Name=Obesity-related traits 10q25.3 NA NA NA NA rs3981351 0.7 0.7 0.686 0.691294 0.7604 0.5774 0.7507 0.6498 0.7515 0.77 0.6 0.75 0.66 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068291 NA NA 0.764928 0.690751 NA 0.688 NA 3.8080054 1271 10 27350201 27350201 T C intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs11015497 0.09 0.09 0.084 0.0972444 0.0626 0.126 0.036 0.1505 0.0746 0.06 0.12 0.06 0.12 0.0725 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022377 NA NA 0.057164 0.135574 NA 0.072 NA 3.807736 1271 2 197583379 197583379 C T intronic CCDC150 NA NA NA intronic ENSG00000144395 NA NA NA NA NA 2q33.1 NA NA NA NA rs6751627 0.08 0.08 0.075 0.10643 0.0596 0.0278 0.0634 0.1936 0.1483 0.06 0.03 0.07 0.15 0.079 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023011 NA NA 0.053946 0.160519 ID=COSN166365;OCCURENCE=1(large_intestine) 0.188 NA 3.807454 1271 20 58450287 58450287 T C intronic SYCP2 NA NA NA intronic ENSG00000196074 NA NA NA NA NA 20q13.33 NA NA NA NA rs8125234 0.05 0.05 0.049 0.0473243 0.0775 NA 0.0346 0.093 0.0123 0.07 NA 0.03 0.1 0.0598 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.325896 NA NA 0.055258 0.08896 NA 0.036 NA 3.807442 1271 3 50102446 50102446 T C intronic RBM6 NA NA NA intronic ENSG00000004534 NA NA NA NA NA 3p21.31 NA NA NA NA rs115669815 0.04 0.04 0.037 0.0477236 0.0626 0.0258 0.0202 0.0061 0.1309 0.07 0.03 0.04 0.01 0.0664 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.108013 2.108013 NA 0.063721 0.010667 NA 0.014 NA 3.807279 1271 1 33840795 33840795 T G intronic PHC2 NA NA NA intronic ENSG00000134686 NA NA NA NA NA 1p35.1 NA NA NA NA rs10914693 0.14 0.14 0.151 0.155351 0.1928 0.0437 0.111 0.1664 0.2485 0.2 0.05 0.13 0.17 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296931 NA NA NA NA NA 0.275 NA 3.8072 1271 1 151798295 151798295 G A intronic RORC NA NA NA intronic ENSG00000143365 NA NA NA NA NA 1q21.3 NA NA NA NA rs12030974 0.22 0.22 0.224 0.246006 0.1928 0.3948 0.3386 0.0144 0.3947 0.19 0.41 0.3 0.01 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599889 NA NA NA NA NA 0.174 NA 3.8072 1271 2 201785657 201785657 T C intronic ORC2 NA NA NA intronic ENSG00000115942 NA NA NA NA NA 2q33.1 NA NA NA NA rs2307358 0.19 0.19 0.21 0.191893 0.1928 0.0139 0.147 0.4493 0.0583 0.2 0.0035 0.15 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796286 NA NA NA NA NA 0.217 NA 3.8072 1271 2 231326188 231326188 A G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs11692640 0.19 0.19 0.149 0.187101 0.1928 0.129 0.2176 0.2421 0.1452 0.19 0.12 0.24 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309043 NA NA NA NA NA 0.167 NA 3.8072 1271 5 97361789 97361789 G A intergenic RIOK2,RGMB dist=842784;dist=743210 NA NA ncRNA_exonic ENSG00000249101 NA NA NA NA NA 5q15 NA NA NA NA rs1965669 0.15 0.15 0.135 0.16234 0.1928 0.2312 0.1499 0.053 0.2168 0.18 0.21 0.14 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.156598 NA NA NA NA NA 0.268 NA 3.8072 1271 7 100000274 100000274 C A intronic ZCWPW1 NA NA NA intronic ENSG00000078487 NA NA NA NA NA 7q22.1 NA NA NA NA rs35111986 0.1 0.1 0.08 0.0870607 0.1928 0.0278 0.1052 0.025 0.1104 0.19 0.02 0.1 0.03 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172378 NA NA NA NA NA 0.116 NA 3.8072 1271 10 95400054 95400054 C G intronic PDE6C NA NA NA intronic ENSG00000095464 NA NA NA NA NA 10q23.33 NA NA NA NA rs2275227 0.15 0.15 0.152 0.164137 0.1928 0.1806 0.1599 0.0552 0.2679 0.2 0.16 0.19 0.06 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901008 NA NA NA NA NA 0.101 NA 3.8072 1271 11 118011860 118011860 G A intronic SCN4B NA NA NA intronic ENSG00000177098 NA NA NA NA NA 11q23.3 NA NA NA NA rs12804550 0.14 0.14 0.132 0.141973 0.1928 0.1062 0.1369 0.1407 0.1319 0.18 0.1 0.16 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.342976 2.342976 NA NA NA NA 0.239 NA 3.8072 1271 14 93398144 93398144 A G intronic CHGA NA NA NA intronic ENSG00000100604 NA NA NA NA NA 14q32.12 NA NA NA NA rs11851859 0.26 0.26 0.252 0.273163 0.1928 0.4018 0.1527 0.2648 0.32 0.19 0.44 0.15 0.24 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055654 NA NA NA NA NA 0.341 NA 3.8072 1271 12 18534866 18534866 C A intronic PIK3C2G NA NA NA intronic ENSG00000139144 NA NA NA NA NA 12p12.3 NA NA NA NA rs11044057 0.17 0.17 0.138 0.167532 0.1083 0.1776 0.2723 0.2292 0.0603 0.11 0.18 0.24 0.22 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476619 NA NA 0.08467 0.221684 NA 0.268 NA 3.80703 1271 16 1255083 1255083 C T intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA NA NA NA rs72775445 0.03 0.03 0.023 0.0245607 0.0636 NA 0.0288 0.0023 0.0368 0.06 NA 0.03 0.002 0.0674 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639192 NA NA 0.062048 0.01025 NA 0.007 NA 3.806952 1271 1 153004809 153004809 T C UTR5 SPRR1B NM_003125:c.-13T>C NA NA UTR5 ENSG00000169469 ENST00000307098:c.-13T>C NA NA NA NA 1q21.3 NA Name=PAX5-N19 NA NA rs3181787 0.52 0.52 0.485 0.49401 0.5099 0.5913 0.4251 0.4402 0.499 0.51 0.62 0.46 0.46 0.5058 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844643 NA NA 0.510814 0.468679 NA 0.457 NA 3.8068194 1271 3 78808356 78808356 G A intronic ROBO1 NA NA NA ncRNA_exonic ENSG00000240752 NA NA NA NA NA 3p12.3 NA NA NA NA rs35812135 0.61 0.61 0.633 0.593051 0.5268 0.7361 0.4856 0.7042 0.4397 0.53 0.74 0.48 0.71 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213699 NA NA NA NA NA 0.543 NA 3.8065333 1271 15 58467095 58467095 G A intronic AQP9 NA NA NA intronic ENSG00000103569,ENSG00000128918 NA NA NA NA NA 15q21.3 NA Name=MafK_(ab50322) NA NA rs2280195 0.33 0.33 0.322 0.320288 0.3936 0.2232 0.2997 0.3487 0.3211 0.39 0.22 0.35 0.34 0.3741 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387571 NA NA 0.425792 0.385493 NA 0.341 NA 3.806508 1271 1 1231507 1231507 G A intronic ACAP3 NA NA NA intronic ENSG00000131584 NA NA NA NA NA 1p36.33 NA NA NA NA rs619608 0.12 0.12 0.109 0.119609 0.0467 0.1647 0.0951 0.1604 0.1104 0.05 0.16 0.12 0.17 0.0968 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540175 NA NA 0.05007 0.118277 NA 0.065 NA 3.80643 1271 10 45959652 45959652 C A intronic MARCH8 NA NA NA intronic ENSG00000165406 NA NA NA NA NA 10q11.21 NA NA NA NA rs12771275 0.07 0.07 0.069 0.0499201 0.0785 0.0536 0.0317 0.0552 0.0225 0.08 0.06 0.05 0.08 0.0546 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201753 NA NA 0.060698 0.066273 NA 0.014 NA 3.806202 1271 1 39757799 39757799 G C intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs16826036 0.15 0.15 0.132 0.121206 0.1938 0.1706 0.2061 0.0136 0.0808 0.19 0.17 0.21 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359933 NA NA NA NA NA 0.109 NA 3.8062 1271 1 223116109 223116109 C T intronic DISP1 NA NA NA intronic ENSG00000154309 NA NA NA NA NA 1q41 NA NA NA NA rs75109669 0.13 0.13 0.156 0.122005 0.1938 0.001 0.1182 0.1959 0.0757 0.18 0.0017 0.13 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902917 NA NA NA NA NA 0.188 NA 3.8062 1271 6 24418878 24418878 G A intronic MRS2 NA NA NA intronic ENSG00000124532 NA NA NA NA NA 6p22.3 NA NA NA NA rs45478094 0.13 0.13 0.113 0.116214 0.1938 0.1478 0.0965 0.0159 0.1534 0.2 0.16 0.09 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607768 NA NA NA NA NA 0.08 NA 3.8062 1271 9 2103950 2103950 T C intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA NA NA rs1986592 0.37 0.37 0.424 0.438099 0.1938 0.4147 0.2795 0.8744 0.2362 0.19 0.39 0.25 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545211 NA NA NA NA ID=COSN168460;OCCURENCE=1(large_intestine) 0.428 NA 3.8062 1271 10 71142183 71142183 G A intronic HK1 NA NA NA intronic ENSG00000156515 NA NA NA NA NA 10q22.1 NA NA NA NA rs4746846 0.29 0.29 0.263 0.290335 0.1938 0.497 0.4092 0.1747 0.2485 0.19 0.52 0.38 0.14 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090902 NA NA NA NA NA 0.159 NA 3.8062 1271 10 105812690 105812690 G C intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA NA NA NA rs2274101 0.13 0.13 0.116 0.13738 0.1938 0.12 0.1499 0.0431 0.2157 0.21 0.09 0.14 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363884 NA NA NA NA NA 0.065 NA 3.8062 1271 12 113715251 113715251 T G intronic TPCN1 NA NA NA intronic ENSG00000186815 NA NA NA NA NA 12q24.13 NA NA NA NA rs7955036 0.23 0.23 0.236 0.233027 0.1938 0.2282 0.1354 0.3638 0.1708 0.2 0.26 0.15 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596165 NA NA NA NA NA 0.341 NA 3.8062 1271 14 20873524 20873524 A G intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs3762146 0.23 0.23 0.247 0.254593 0.1938 0.0923 0.2075 0.444 0.2618 0.19 0.1 0.21 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083565 NA NA NA NA ID=COSN164602;OCCURENCE=1(breast) 0.203 NA 3.8062 1271 17 2888212 2888212 G A intronic RAP1GAP2 NA NA NA intronic ENSG00000132359 NA NA NA NA NA 17p13.3 NA NA NA NA rs12943691 0.13 0.13 0.123 0.0934505 0.1938 0.0645 0.1311 0.0408 0.0644 0.2 0.07 0.18 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323873 NA NA NA NA NA 0.123 NA 3.8062 1271 20 33581889 33581889 T C intronic MYH7B NA NA NA intronic ENSG00000078814 NA NA NA NA NA 20q11.22 NA NA NA NA rs7268266 0.17 0.17 0.172 0.17512 0.1938 0.1071 0.134 0.1687 0.2638 0.2 0.12 0.16 0.17 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693945 NA NA NA NA NA 0.283 NA 3.8062 1271 7 142364553 142364553 G A intergenic LOC730441,MTRNR2L6 dist=392485;dist=9578 NA NA exonic ENSG00000211750 NA nonsynonymous SNV ENSG00000211750:ENST00000390397:exon2:c.G188A:p.R63Q NA NA 7q34 NA NA NA NA rs17254 0.23 0.23 0.229 0.218051 0.3569 0.0595 0.2651 0.1694 0.271 0.36 0.07 0.28 0.17 0.3025 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.42194 2.42194 0.04 0.367833 0.189914 NA 0.304 NA 3.8061004 1271 6 30041036 30041036 G A intronic RNF39 NA NA NA intronic ENSG00000204618 NA NA NA NA NA 6p22.1 NA NA NA NA rs62390181 0.07 0.07 0.041 0.0848642 0.0586 0.1925 0.0317 0.0008 0.1524 0.06 0.16 0.04 0.002 0.0731 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108887 NA NA 0.0622 0.016214 NA 0.087 NA 3.8061 1271 12 103240630 103240630 C A intronic PAH NA NA NA intronic ENSG00000171759 NA NA NA NA NA 12q23.2 NA NA NA NA rs1522306 0.27 0.27 0.262 0.269569 0.4254 0.0536 0.3184 0.2443 0.3313 0.42 0.05 0.35 0.24 0.3517 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008564 NA NA 0.41686 0.268498 NA 0.246 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000078540.1|RCV000089180.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.80604 1271 12 67700398 67700398 A T intronic CAND1 NA NA NA intronic ENSG00000111530 NA NA NA NA NA 12q15 NA NA NA NA rs34019113 0.07 0.07 0.052 0.0666933 0.0636 0.0704 0.1427 0.0197 0.0757 0.07 0.09 0.11 0.02 0.0734 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465122 NA NA 0.057585 0.028597 NA 0.043 NA 3.805415 1271 14 90455460 90455460 G A intronic TDP1 NA NA NA intronic ENSG00000042088 NA NA NA NA NA 14q32.11 NA NA NA NA rs35972056 0.14 0.14 0.156 0.175319 0.0477 0.0357 0.098 0.4788 0.0951 0.05 0.04 0.11 0.43 0.0946 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278296 NA NA 0.052326 0.396278 NA 0.13 NA 3.805374 1271 3 130651096 130651096 T C intronic ATP2C1 NA NA NA intronic ENSG00000017260 NA NA NA NA NA 3q22.1 NA NA NA NA rs2685178 0.14 0.14 0.15 0.153754 0.1948 0.0446 0.1326 0.174 0.2117 0.18 0.05 0.13 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316117 NA NA NA NA NA 0.21 NA 3.8052 1271 20 52592070 52592070 G A intronic BCAS1 NA NA NA intronic ENSG00000064787 NA NA NA NA NA 20q13.2 NA NA NA NA rs3815270 0.13 0.13 0.113 0.132588 0.1948 0.1419 0.1354 0.0265 0.2004 0.19 0.12 0.16 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303626 NA NA NA NA NA 0.094 NA 3.8052 1271 6 32797684 32797684 A G intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA Name=ZNF263 NA NA rs241437 0.39 0.39 0.39 0.409345 0.3917 0.5377 0.3963 0.239 0.5348 0.39 0.53 0.38 0.26 0.4128 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302215 NA NA 0.390365 0.277152 NA 0.297 NA 3.805135 1272 19 11136215 11136215 C G intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs2075021 0.45 0.45 0.45 0.450879 0.4036 0.5585 0.3026 0.4266 0.5266 0.4 0.59 0.35 0.43 0.4189 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531621 NA NA 0.372674 0.426237 NA 0.254 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114303.2;CLNDSDB=.;CLNDSDBID=. 3.804826 1272 6 5404958 5404958 C T intronic FARS2 NA NA NA intronic ENSG00000145982 NA NA NA NA NA 6p25.1 NA NA NA NA rs7759327 0.08 0.08 0.089 0.0950479 0.0547 0.1091 0.1095 0.1112 0.09 0.04 0.1 0.09 0.12 0.0796 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.923813 NA NA 0.061163 0.109396 NA 0.065 NA 3.804537 1272 19 54161585 54161585 G A intergenic DPRX,MIR512-2 dist=21322;dist=8342 NA NA ncRNA_exonic ENSG00000270347 NA NA NA NA NA 19q13.42 NA NA NA NA rs8103787 0.17 0.17 0.161 0.175319 0.1958 0.0208 0.2003 0.2466 0.1994 0.21 0.01 0.18 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135472 NA NA NA NA NA 0.188 NA 3.8042 1272 1 34006598 34006598 C G intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA rs12741094 0.23 0.23 0.212 0.238419 0.1958 0.3433 0.245 0.1354 0.3088 0.2 0.32 0.2 0.18 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504208 NA NA NA NA NA 0.123 NA 3.8042 1272 2 108875093 108875093 T A intronic SULT1C3 NA NA NA intronic ENSG00000196228 NA NA NA NA NA 2q12.3 NA NA NA NA rs2198463 0.4 0.4 0.39 0.36242 0.1958 0.6994 0.3876 0.3064 0.2444 0.22 0.76 0.37 0.3 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190127 NA NA NA NA NA 0.283 NA 3.8042 1272 6 167796182 167796182 C G intronic TCP10 NA NA NA intronic ENSG00000203690 NA NA NA NA NA 6q27 NA NA NA NA rs62428311 0.25 0.25 0.225 0.236422 0.1958 0.3839 0.2594 0.1747 0.1933 0.19 0.4 0.23 0.19 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676007 NA NA NA NA NA 0.159 NA 3.8042 1272 8 30977696 30977696 A G intronic WRN NA NA NA intronic ENSG00000165392 NA NA NA NA NA 8p12 NA NA NA NA rs4987034 0.14 0.14 0.143 0.152955 0.1958 0.1032 0.1311 0.09 0.2607 0.2 0.09 0.13 0.1 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147069 NA NA NA NA NA 0.13 NA 3.8042 1272 14 77255835 77255835 C T intronic ANGEL1 NA NA NA intronic ENSG00000013523 NA NA NA NA NA 14q24.3 NA NA NA NA rs3825697 0.18 0.18 0.154 0.194888 0.1958 0.2381 0.2248 0.0756 0.2894 0.2 0.23 0.2 0.08 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019771 NA NA NA NA NA 0.167 NA 3.8042 1272 17 73273305 73273305 A G intronic SLC25A19 NA NA NA intronic ENSG00000125454 NA NA NA NA NA 17q25.1 NA NA NA NA rs73996007 0.24 0.24 0.214 0.265176 0.1958 0.1706 0.1945 0.4939 0.1748 0.19 0.11 0.22 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249103 NA NA NA NA NA 0.225 NA 3.8042 1272 19 2110019 2110019 T C intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs2074958 0.27 0.27 0.245 0.27496 0.1958 0.3343 0.1988 0.3026 0.3119 0.19 0.38 0.21 0.3 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.085851 NA NA NA NA NA 0.188 NA 3.8042 1272 22 42209922 42209922 A G intronic CCDC134 NA NA NA intronic ENSG00000100147 NA NA NA NA NA 22q13.2 NA NA NA NA rs9611672 0.16 0.16 0.115 0.159145 0.1958 0.0635 0.4135 0.0204 0.227 0.19 0.06 0.42 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.815004 1.815004 NA NA NA NA 0.138 NA 3.8042 1272 22 50306940 50306940 C T intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs56377703 0.21 0.21 0.223 0.238019 0.1958 0.1062 0.1326 0.3593 0.3282 0.21 0.12 0.14 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88622 NA NA NA NA NA 0.326 NA 3.8042 1272 2 161051853 161051853 A G intronic ITGB6 NA NA NA intronic ENSG00000115221 NA NA NA NA NA 2q24.2 NA NA NA NA rs2124971 0.23 0.23 0.251 0.228035 0.0487 0.4296 0.0778 0.3245 0.181 0.05 0.46 0.07 0.34 0.1102 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.225315 NA NA 0.036977 0.283477 NA 0.217 NA 3.804123 1272 18 29450300 29450300 T A intronic TRAPPC8 NA NA NA intronic ENSG00000153339 NA NA NA NA NA 18q12.1 NA NA NA NA rs75554495 0.05 0.05 0.056 0.0535144 0.0646 0.0109 0.0447 0.0877 0.046 0.07 0.01 0.03 0.1 0.0632 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210952 NA NA 0.068087 0.085189 NA 0.072 NA 3.804113 1272 6 47649573 47649573 C T exonic GPR111 NA synonymous SNV GPR111:NM_153839:exon7:c.C1074T:p.S358S exonic ENSG00000164393 NA synonymous SNV ENSG00000164393:ENST00000398742:exon5:c.C1074T:p.S358S,ENSG00000164393:ENST00000296862:exon6:c.C1278T:p.S426S,ENSG00000164393:ENST00000507065:exon6:c.C1074T:p.S358S,ENSG00000164393:ENST00000467205:exon7:c.C1074T:p.S358S NA NA 6p12.3 NA NA NA NA rs10807371 0.38 0.38 0.469 0.509385 0.6272 0.3085 0.4323 0.4448 0.7372 0.49 0.26 0.43 0.32 0.5907 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22031 NA NA 0.645021 0.454616 NA NA NA 3.8037456 1272 6 29580265 29580265 G T intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs28359967 0.09 0.09 0.08 0.105631 0.0974 0.12 0.0807 0.0946 0.1319 0.08 0.12 0.08 0.09 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.067708 NA NA 0.099309 0.08815 NA 0.123 NA 3.803291 1272 5 109124793 109124793 A G intronic MAN2A1 NA NA NA intronic ENSG00000112893 NA NA NA NA NA 5q21.3 NA NA NA NA rs17162238 0.06 0.06 0.065 0.0854633 0.0606 0.005 0.0403 0.177 0.1022 0.05 NA 0.06 0.15 0.0689 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656464 NA NA 0.067272 0.138182 NA 0.065 NA 3.803228 1272 1 42606766 42606766 T A intergenic NONE,GUCA2B dist=NONE;dist=12326 NA NA ncRNA_exonic ENSG00000228776 NA NA NA NA NA 1p34.2 NA NA NA NA rs2203198 0.27 0.27 0.255 0.269169 0.1968 0.379 0.3012 0.2519 0.2311 0.19 0.37 0.24 0.26 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35584 NA NA NA NA NA 0.341 NA 3.8032 1272 2 190682632 190682632 G C intronic PMS1 NA NA NA intronic ENSG00000064933 NA NA NA NA NA 2q32.2 NA NA NA NA rs3791773 0.23 0.23 0.223 0.216054 0.1968 0.2192 0.2378 0.2905 0.1166 0.19 0.23 0.26 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416903 NA NA NA NA NA 0.254 NA 3.8032 1272 3 171323305 171323305 T C intronic PLD1 NA NA NA intronic ENSG00000075651 NA NA NA NA NA 3q26.31 NA NA NA NA rs2287578 0.14 0.14 0.141 0.160343 0.1968 0.131 0.1023 0.1256 0.2413 0.2 0.12 0.11 0.12 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20767 NA NA NA NA NA 0.145 NA 3.8032 1272 6 24578272 24578272 G A intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA NA NA NA rs2760157 0.39 0.39 0.368 0.357827 0.1968 0.5437 0.3991 0.447 0.182 0.21 0.55 0.38 0.48 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562477 NA NA NA NA ID=COSN167709;OCCURENCE=1(large_intestine) 0.377 NA 3.8032 1272 22 20030980 20030980 C T intronic TANGO2 NA NA NA intronic ENSG00000183597 NA NA NA NA NA 22q11.21 NA NA NA NA rs446388 0.06 0.06 0.07 0.0722843 0.0706 0.0764 0.0231 0.0635 0.1166 0.07 0.06 0.02 0.07 0.0646 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378146 NA NA 0.061744 0.064231 NA 0.058 NA 3.803056 1272 13 37593424 37593424 T C intronic SUPT20H NA NA NA intronic ENSG00000102710 NA NA NA NA NA 13q13.3 NA NA NA NA rs9566175 0.15 0.15 0.136 0.119409 0.1113 0.3442 0.1383 0.0038 0.0389 0.12 0.34 0.12 0.01 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514979 NA NA 0.085705 0.019509 NA 0.101 NA 3.802995 1272 1 146494510 146494510 T C ncRNA_exonic LOC728989 NA NA NA ncRNA_exonic ENSG00000227242 NA NA NA NA NA 1q21.1 NA NA NA NA rs11585592 0.31 0.31 0.275 0.335064 0.4732 0.2758 0.2723 0.3328 0.3016 0.41 0.24 0.28 0.28 0.3905 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324068 NA NA NA NA NA 0.094 NA 3.8029666 1272 1 204948735 204948735 A G intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs6667633 0.08 0.08 0.077 0.0770767 0.0557 0.0089 0.0403 0.2035 0.0245 0.06 0.01 0.05 0.24 0.0648 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302609 NA NA 0.076601 0.205 NA 0.094 NA 3.802899 1272 1 38078300 38078300 A G UTR3 RSPO1 NM_001038633:c.*127T>C,NM_001242908:c.*127T>C,NM_001242909:c.*127T>C,NM_001242910:c.*127T>C NA NA UTR3 ENSG00000169218 ENST00000401071:c.*127T>C,ENST00000356545:c.*127T>C,ENST00000401070:c.*127T>C,ENST00000373059:c.*127T>C,ENST00000401069:c.*127T>C,ENST00000401068:c.*127T>C NA NA NA NA 1p34.3 NA NA NA NA rs4652964 0.49 0.49 0.458 0.46865 0.5308 0.6766 0.5937 0.2148 0.4448 0.55 0.62 0.56 0.22 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843603 NA NA NA NA NA 0.478 NA 3.8025334 1272 22 43032870 43032870 G T intronic CYB5R3 NA NA NA UTR5 ENSG00000100243 ENST00000407332:c.-66C>A NA NA NA NA 22q13.2 NA NA NA NA rs2285141 0.23 0.23 0.22 0.232827 0.1113 0.5933 0.1254 0.0915 0.2536 0.11 0.55 0.12 0.1 0.1574 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206071 NA NA 0.095698 0.090558 ID=COSN166772;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.094 NA 3.8022687 1272 16 66656147 66656147 T C intronic CMTM4 NA NA NA intronic ENSG00000183723 NA NA NA NA NA 16q21 NA NA NA NA rs355947 0.07 0.07 0.058 0.0788738 0.0676 0.1121 0.1326 0.0061 0.1166 0.07 0.11 0.1 0.01 0.0839 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317549 1.317549 NA 0.046279 0.015902 NA 0.058 NA 3.802221 1272 2 9558614 9558614 T C intronic ITGB1BP1 NA NA NA intronic ENSG00000119185 NA NA NA NA NA 2p25.1 NA NA NA NA rs16867025 0.15 0.15 0.145 0.136581 0.1978 0.0169 0.1455 0.2201 0.0777 0.19 0.01 0.16 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167166 NA NA NA NA NA 0.181 NA 3.8022 1272 4 146297424 146297424 G C intergenic OTUD4,SMAD1 dist=196592;dist=105527 NA NA downstream ENSG00000251333 NA NA NA Score=385;Name=lod=49 NA 4q31.21 NA NA NA NA rs2044277 0.73 0.73 0.687 0.735823 0.6978 0.9246 0.7781 0.4962 0.8742 0.68 0.94 0.75 0.53 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434078 NA NA NA NA NA 0.667 NA 3.8022 1272 6 29820170 29820170 G C intergenic HLA-G,HLA-H dist=21271;dist=35213 NA NA ncRNA_exonic ENSG00000233265 NA NA NA NA NA 6p22.1 NA NA NA NA rs9258606 0.16 0.16 0.111 0.189097 0.1978 0.2282 0.1182 0.0825 0.3344 0.2 0.18 0.11 0.09 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439163 NA NA NA NA NA 0.196 NA 3.8022 1272 6 29820178 29820178 G C intergenic HLA-G,HLA-H dist=21279;dist=35205 NA NA ncRNA_exonic ENSG00000233265 NA NA NA NA NA 6p22.1 NA NA NA NA rs9258607 0.16 0.16 0.114 0.188898 0.1978 0.2272 0.1182 0.0825 0.3344 0.2 0.18 0.11 0.09 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.096279 NA NA NA NA NA 0.196 NA 3.8022 1272 10 17726573 17726573 A G intronic STAM NA NA NA intronic ENSG00000136738 NA NA NA NA NA 10p12.33 NA NA NA NA rs34875696 0.15 0.15 0.127 0.135583 0.1978 0.1895 0.1427 0.0545 0.1207 0.19 0.19 0.15 0.04 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138715 NA NA NA NA NA 0.167 NA 3.8022 1272 5 147020419 147020419 T C ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA NA NA 5q32 NA NA NA NA rs1529686 0.33 0.33 0.306 0.342252 0.161 0.5982 0.3602 0.3162 0.2873 0.14 0.61 0.29 0.32 0.2325 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478922 NA NA 0.137674 0.28847 NA 0.29 NA 3.8021593 1272 20 12990044 12990044 T C intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA Name=CTCF,Rad21 Name=83 NA rs3761895 0.55 0.55 0.489 0.551917 0.7485 0.5238 0.6585 0.1808 0.8047 0.74 0.58 0.62 0.17 0.6993 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.760019 2.760019 NA 0.750349 0.282796 NA 0.587 NA 3.801851 1272 17 71202431 71202431 G A intronic COG1 NA NA NA intronic ENSG00000166685 NA NA NA NA NA 17q25.1 NA NA NA NA rs77740419 0.04 0.04 0.04 0.0551118 0.0716 0.003 0.0706 0.0734 0.0562 0.06 NA 0.06 0.05 0.0597 0.067 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53298 NA NA 0.06686 0.065138 NA 0.051 NA 3.80184 1272 2 3624051 3624051 C A intronic RPS7 NA NA NA intronic ENSG00000171863 NA NA NA NA NA 2p25.3 NA NA NA NA rs62106034 0.04 0.04 0.041 0.0593051 0.0636 0.0575 0.036 0.0197 0.1268 0.06 0.04 0.04 0.02 0.0648 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474007 NA NA 0.069946 0.033682 NA 0.065 NA 3.801654 1272 16 84495224 84495224 A G intronic ATP2C2 NA NA NA ncRNA_intronic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs369750 0.41 0.41 0.36 0.391773 0.5318 0.3016 0.4294 0.3744 0.3374 0.53 0.27 0.46 0.33 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.90826 NA NA NA NA NA 0.457 NA 3.8015333 1272 9 136277480 136277480 A G exonic REXO4 NA synonymous SNV REXO4:NM_020385:exon4:c.T849C:p.T283T exonic ENSG00000148300 NA synonymous SNV ENSG00000148300:ENST00000371942:exon4:c.T849C:p.T283T,ENSG00000148300:ENST00000453165:exon4:c.T804C:p.T268T NA NA 9q34.2 NA NA NA NA rs2285486 0.71 0.71 0.715 0.697883 0.6074 0.749 0.6268 0.8759 0.5481 0.6 0.76 0.64 0.87 0.6326 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52808 NA NA 0.625233 0.831366 NA 0.725 NA 3.8014336 1272 15 25926186 25926186 G A exonic ATP10A NA synonymous SNV ATP10A:NM_024490:exon18:c.C3528T:p.A1176A exonic ENSG00000206190 NA synonymous SNV ENSG00000206190:ENST00000356865:exon18:c.C3528T:p.A1176A NA NA 15q12 NA NA NA NA rs2076743 0.67 0.67 0.663 0.677915 0.6123 0.6121 0.7147 0.8094 0.6094 0.62 0.63 0.71 0.79 0.6345 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.543677 NA NA 0.618605 0.800045 NA 0.725 NA 3.8012616 1272 5 65083865 65083865 A G intronic NLN NA NA NA intronic ENSG00000123213 NA NA NA NA NA 5q12.3 NA NA NA NA rs6862580 0.18 0.18 0.165 0.248403 0.1988 0.0933 0.2003 0.2504 0.4908 0.2 0.07 0.2 0.25 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938358 NA NA NA NA NA 0.188 NA 3.8012 1272 8 19813667 19813667 T G intronic LPL NA NA NA intronic ENSG00000175445 NA NA NA NA NA 8p21.3 NA NA NA NA rs269 0.26 0.26 0.276 0.277955 0.1988 0.246 0.1988 0.4705 0.1881 0.19 0.23 0.2 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342115 NA NA NA NA NA 0.246 NA 3.8012 1272 10 73578672 73578672 G A intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs749823 0.21 0.21 0.2 0.206669 0.1988 0.2431 0.1585 0.2587 0.1411 0.2 0.22 0.14 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407451 NA NA NA NA NA 0.217 NA 3.8012 1272 10 73581560 73581560 A T intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs2070968 0.2 0.2 0.19 0.198682 0.1988 0.2431 0.1556 0.2284 0.1431 0.2 0.22 0.14 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500248 NA NA NA NA NA 0.217 NA 3.8012 1272 11 73071263 73071263 T C intronic ARHGEF17 NA NA NA intronic ENSG00000110237 NA NA NA NA NA 11q13.4 NA NA NA NA rs7131383 0.26 0.26 0.265 0.286542 0.1988 0.0456 0.1571 0.7148 0.138 0.2 0.05 0.15 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035297 NA NA NA NA NA 0.355 NA 3.8012 1272 11 85623607 85623607 T G intronic CCDC83 NA NA NA intronic ENSG00000150676 NA NA NA NA NA 11q14.2 NA NA NA NA rs11608136 0.24 0.24 0.219 0.228435 0.1988 0.373 0.2839 0.0681 0.2873 0.2 0.42 0.26 0.09 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257052 NA NA NA NA ID=COSN164011;OCCURENCE=1(breast) 0.21 NA 3.8012 1272 11 130781475 130781475 C G intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA NA NA NA rs3751038 0.14 0.14 0.133 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739944 NA NA NA NA NA 0.217 NA 3.8012 1272 11 130781767 130781767 C A intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA NA NA NA rs12420834 0.14 0.14 0.146 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86597 NA NA NA NA NA 0.217 NA 3.8012 1272 14 24675569 24675569 A G intronic TSSK4 NA NA NA intronic ENSG00000100926,ENSG00000139908,ENSG00000254692 NA NA NA NA NA 14q12 NA NA NA NA rs1242017 0.29 0.29 0.267 0.291733 0.1988 0.3016 0.1571 0.4433 0.2679 0.21 0.31 0.19 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.336788 NA NA NA NA NA 0.283 NA 3.8012 1272 16 89613233 89613233 A C intronic SPG7 NA NA NA intronic ENSG00000197912 NA NA NA NA NA 16q24.3 NA NA NA NA rs461405 0.19 0.19 0.191 0.188898 0.1988 0.1518 0.1499 0.1929 0.2393 0.2 0.17 0.16 0.2 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453603 NA NA NA NA NA 0.13 NA 3.8012 1272 19 5041049 5041049 C T intronic KDM4B NA NA NA intronic ENSG00000127663 NA NA NA NA NA 19p13.3 NA NA NA NA rs11878982 0.11 0.11 0.097 0.0916534 0.1988 0.001 0.1513 0.0106 0.1421 0.21 0.0017 0.2 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375966 NA NA NA NA NA 0.13 NA 3.8012 1272 7 6854506 6854506 C T intronic CCZ1B NA NA NA intronic ENSG00000146574 NA NA NA NA NA 7p22.1 NA NA NA NA rs138393587 0.04 0.04 0.045 0.0449281 0.0596 NA 0.0432 0.0772 0.0337 0.07 NA 0.05 0.04 0.06 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149446 NA NA 0.079823 0.070909 NA 0.007 NA 3.800577 1272 1 152976108 152976108 C T UTR3 SPRR3 NM_005416:c.*102C>T,NM_001097589:c.*102C>T NA NA UTR3 ENSG00000163209 ENST00000331860:c.*102C>T,ENST00000295367:c.*102C>T NA NA NA NA 1q21.3 NA NA NA NA rs1015996 0.55 0.55 0.55 0.52496 0.5328 0.6319 0.4337 0.5 0.5051 0.53 0.66 0.48 0.52 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115013 NA NA NA NA NA 0.464 NA 3.8005334 1272 1 152976114 152976114 G C UTR3 SPRR3 NM_005416:c.*108G>C,NM_001097589:c.*108G>C NA NA UTR3 ENSG00000163209 ENST00000331860:c.*108G>C,ENST00000295367:c.*108G>C NA NA NA NA 1q21.3 NA NA NA NA rs1015995 0.55 0.55 0.567 0.52496 0.5328 0.6319 0.4337 0.5 0.5051 0.53 0.66 0.48 0.52 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154646 NA NA NA NA NA 0.464 NA 3.8005334 1272 15 45445499 45445499 G C intronic DUOX1 NA NA NA ncRNA_intronic ENSG00000259539 NA NA NA NA NA 15q21.1 NA NA NA NA rs1648304 0.27 0.27 0.24 0.242412 0.5328 0.0754 0.3141 0.0628 0.3078 0.54 0.03 0.36 0.07 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275552 NA NA NA NA NA 0.319 NA 3.8005333 1272 4 155489085 155489085 A G intronic FGB NA NA NA intronic ENSG00000171564 NA NA NA NA NA 4q31.3 NA NA NA NA rs2227411 0.16 0.16 0.131 0.137979 0.1998 0.2242 0.147 0.0189 0.1401 0.21 0.18 0.2 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.217882 NA NA NA NA NA 0.138 NA 3.8002 1272 10 96731788 96731788 A G intronic CYP2C9 NA NA NA intronic ENSG00000138109 NA NA NA NA NA 10q23.33 NA NA NA NA rs9332172 0.18 0.18 0.178 0.18111 0.1998 0.0873 0.1542 0.2716 0.1554 0.18 0.09 0.2 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580903 NA NA NA NA NA 0.21 NA 3.8002 1272 20 25193849 25193849 C A intronic ENTPD6 NA NA NA intronic ENSG00000197586 NA NA NA NA NA 20p11.21 NA NA NA NA rs6115089 0.09 0.09 0.074 0.111222 0.0507 0.0139 0.2003 0.1331 0.181 0.06 0.01 0.18 0.15 0.095 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006518 NA NA 0.054302 0.11507 NA 0.138 NA 3.799998 1272 12 133437981 133437981 A C intronic CHFR NA NA NA intronic ENSG00000072609 NA NA NA NA NA 12q24.33 NA NA NA NA rs12578891 0.14 0.14 0.11 0.142971 0.2008 0.1171 0.2522 0.0098 0.2127 0.21 0.1 0.23 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211788 NA NA NA NA ID=COSN164421;OCCURENCE=1(breast) 0.072 NA 3.7992 1272 22 42339516 42339516 A G intronic CENPM NA NA NA intronic ENSG00000100162 NA NA NA NA NA 22q13.2 NA NA NA NA rs3752591 0.24 0.24 0.225 0.267372 0.2008 0.123 0.4409 0.2935 0.3262 0.2 0.13 0.42 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570831 NA NA NA NA NA 0.275 NA 3.7992 1272 8 144877546 144877546 C T intronic SCRIB NA NA NA intronic ENSG00000180900 NA NA NA NA NA 8q24.3 NA NA NA NA rs115359803 0.04 0.04 0.041 0.0333466 0.0656 0.0248 0.0418 0.0151 0.0276 0.07 0.02 0.06 0.02 0.0597 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065331 NA NA 0.075617 0.022717 NA 0.08 NA 3.799083 1272 5 181660 181660 T G exonic PLEKHG4B NA synonymous SNV PLEKHG4B:NM_052909:exon17:c.T3366G:p.G1122G exonic ENSG00000153404 NA synonymous SNV ENSG00000153404:ENST00000283426:exon17:c.T3366G:p.G1122G NA NA 5p15.33 NA NA NA NA rs7717970 0.43 0.43 0.42 0.439097 0.6312 0.2589 0.4784 0.2935 0.5961 0.63 0.26 0.5 0.27 0.5746 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918799 NA NA 0.661977 0.360418 NA 0.514 NA 3.7988896 1272 15 20874721 20874721 G T downstream NBEAP1 NA NA NA ncRNA_intronic ENSG00000258590 NA NA NA NA NA 15q11.2 NA NA NA NA rs12442500 NA NA 0.279 0.346246 0.3678 0.3929 0.3977 0.23 0.3967 NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597437 NA NA NA NA NA 0.196 NA 3.7988666 1272 11 121425851 121425851 C T intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA NA NA rs77361418 0.05 0.05 0.051 0.0640974 0.0586 0.004 0.0548 0.0908 0.1022 0.07 NA 0.04 0.09 0.0698 0.096 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632952 NA NA 0.072924 0.096232 NA 0.043 NA 3.798676 1272 9 79014170 79014170 T C ncRNA_exonic RPSAP9 NA NA NA ncRNA_exonic ENSG00000234618 NA NA NA Score=810;Name=lod=2616 NA 9q21.13 NA NA NA NA rs7036849 0.88 0.88 0.916 0.89397 0.9314 0.998 0.9524 0.7254 0.9346 0.89 0.97 0.92 0.75 0.9366 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044073 NA NA NA NA NA 0.725 NA 3.7986666 1272 12 120541597 120541597 G A intronic RAB35 NA NA NA intronic ENSG00000111737 NA NA NA NA NA 12q24.23 NA NA NA NA rs73217390 0.03 0.03 0.037 0.0289537 0.0726 0.001 0.0274 0.0045 0.047 0.07 NA 0.02 0.01 0.0548 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649836 NA NA 0.073953 0.01317 NA 0.065 NA 3.798647 1272 7 123256643 123256643 G T intronic ASB15 NA NA NA ncRNA_intronic ENSG00000230442 NA NA NA NA NA 7q31.32 NA NA NA NA rs6963354 0.54 0.54 0.523 0.517372 0.5348 0.6974 0.4928 0.3563 0.5491 0.55 0.68 0.53 0.34 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407122 NA NA NA NA NA 0.406 NA 3.7985333 1272 6 36945938 36945938 C T intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs61748598 0.11 0.11 0.096 NA NA NA NA NA NA 0.08 0.04 0.11 0.26 0.1072 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065323 NA NA 0.094535 0.211757 NA 0.145 NA 3.798265 1272 13 28270714 28270714 T C intergenic POLR1D,GSX1 dist=29155;dist=96066 NA NA ncRNA_exonic ENSG00000226703 NA NA NA NA NA 13q12.2 NA NA NA NA rs35453017 0.17 0.17 0.155 0.144369 0.2018 0.2431 0.1124 0.0734 0.1022 0.2 0.26 0.13 0.05 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512206 NA NA NA NA NA 0.21 NA 3.7982 1272 13 28270989 28270989 A C intergenic POLR1D,GSX1 dist=29430;dist=95791 NA NA ncRNA_exonic ENSG00000226703 NA NA NA NA NA 13q12.2 NA NA NA NA rs61944113 0.17 0.17 0.16 0.144569 0.2018 0.244 0.1124 0.0734 0.1022 0.2 0.26 0.13 0.05 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049532 NA NA NA NA NA 0.21 NA 3.7982 1272 19 2109019 2109019 T C intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs2072306 0.32 0.32 0.32 0.326677 0.2018 0.3343 0.2075 0.4894 0.3119 0.19 0.38 0.22 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566138 NA NA NA NA NA 0.29 NA 3.7982 1272 18 43669980 43669980 T C intronic ATP5A1 NA NA NA intronic ENSG00000152234 NA NA NA NA NA 18q21.1 NA NA Name=3 NA rs2298787 0.28 0.28 0.272 0.315895 0.3917 0.0635 0.317 0.3669 0.4284 0.39 0.05 0.31 0.36 0.3816 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.680927 NA NA 0.428605 0.373581 NA 0.478 NA 3.798095 1272 16 50642201 50642201 G C intronic NKD1 NA NA NA ncRNA_exonic ENSG00000205414 NA NA NA Score=369;Name=lod=42 NA 16q12.1 NA NA NA NA rs933566 0.69 0.69 0.696 0.735024 0.4523 0.9881 0.6484 0.7859 0.7577 0.45 0.99 0.59 0.77 0.5991 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168341 NA NA 0.484302 0.724295 NA 0.645 NA 3.7976313 1272 7 141957424 141957424 G A intronic PRSS58 NA NA NA intronic ENSG00000258223 NA NA NA NA NA 7q34 NA NA NA NA rs12531935 0.18 0.18 0.174 0.20008 0.1034 0.1429 0.2565 0.3366 0.1339 0.09 0.14 0.26 0.31 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533263 NA NA 0.098994 0.348266 NA 0.261 NA 3.797606 1272 8 134050678 134050678 A G UTR3 SLA NM_001045556:c.*91T>C,NM_006748:c.*91T>C,NM_001045557:c.*91T>C NA NA UTR3 ENSG00000155926 ENST00000338087:c.*91T>C,ENST00000427060:c.*91T>C,ENST00000395352:c.*91T>C,ENST00000524345:c.*91T>C,ENST00000517648:c.*91T>C NA NA NA NA 8q24.22 NA NA NA NA rs3739266 0.43 0.43 0.43 0.407149 0.5358 0.1825 0.3703 0.5802 0.2986 0.54 0.18 0.41 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800107 NA NA NA NA ID=COSN168438;OCCURENCE=1(large_intestine) 0.464 NA 3.7975334 1272 7 29952207 29952207 C G intronic WIPF3 NA NA NA ncRNA_exonic ENSG00000238906 NA NA NA NA NA 7p14.3 NA NA NA NA rs6462187 0.49 0.49 0.457 0.51877 0.5358 0.746 0.5735 0.1868 0.6769 0.54 0.7 0.54 0.15 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099996 NA NA NA NA NA 0.493 NA 3.7975333 1272 17 7346302 7346302 T C intronic FGF11 NA NA NA ncRNA_exonic ENSG00000262880 NA NA NA NA NA 17p13.1 NA NA NA NA rs3853818 0.34 0.34 0.322 0.319289 0.5358 0.0248 0.3314 0.3328 0.3732 0.54 0.03 0.38 0.34 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.352245 NA NA NA NA ID=COSN165318;OCCURENCE=1(breast) 0.377 NA 3.7975333 1272 10 27449991 27449991 G C intronic MASTL NA NA NA intronic ENSG00000120539 NA NA NA NA NA 10p12.1 NA NA NA NA rs12572707 0.1 0.1 0.094 0.111821 0.0656 0.1528 0.0432 0.087 0.1994 0.06 0.2 0.05 0.07 0.0849 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057827 NA NA 0.052209 0.091012 NA 0.08 NA 3.797291 1272 15 93588969 93588969 G A intronic RGMA NA NA NA intronic ENSG00000182175 NA NA NA NA NA 15q26.1 NA NA NA NA rs67584445 0.04 0.04 0.051 0.0527157 0.0616 0.0099 0.0461 0.0628 0.0787 0.06 0.01 0.05 0.06 0.0672 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187298 NA NA 0.073995 0.059411 NA 0.109 NA 3.797205 1272 4 165577648 165577648 A G ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=35659;dist=68814 NA NA NA NA 4q32.3 NA NA NA NA rs12644648 0.25 0.25 0.201 0.214457 0.2028 0.5536 0.1801 0.031 0.1493 0.2 0.56 0.2 0.02 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329344 NA NA NA NA NA 0.167 NA 3.7972 1272 4 165578100 165578100 G A ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=36111;dist=68362 NA NA NA NA 4q32.3 NA NA NA NA rs12651422 0.25 0.25 0.22 0.214257 0.2028 0.5526 0.1801 0.031 0.1493 0.2 0.56 0.2 0.02 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856207 NA NA NA NA NA 0.174 NA 3.7972 1272 4 165578266 165578266 T C ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=36277;dist=68196 NA NA NA NA 4q32.3 NA NA NA NA rs72696006 0.25 0.25 0.203 0.214457 0.2028 0.5536 0.1801 0.031 0.1493 0.2 0.56 0.2 0.02 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722735 NA NA NA NA NA 0.174 NA 3.7972 1272 4 165578389 165578389 A G ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=36400;dist=68073 NA NA NA NA 4q32.3 NA NA NA NA rs55762923 0.25 0.25 0.22 0.214457 0.2028 0.5536 0.1801 0.031 0.1493 0.2 0.56 0.2 0.02 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809162 NA NA NA NA NA 0.174 NA 3.7972 1272 4 165578827 165578827 T C ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=36838;dist=67635 NA NA NA NA 4q32.3 NA NA NA NA rs1852764 0.25 0.25 0.21 0.214856 0.2028 0.5546 0.1801 0.0318 0.1493 0.2 0.56 0.2 0.03 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75612 NA NA NA NA NA 0.181 NA 3.7972 1272 16 1815337 1815337 G A intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2917508 0.24 0.24 0.233 0.23103 0.2028 0.3571 0.121 0.1467 0.3221 0.21 0.38 0.14 0.18 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228159 NA NA NA NA NA 0.152 NA 3.7972 1272 20 34571846 34571846 T C intronic CNBD2 NA NA NA intronic ENSG00000149646 NA NA NA NA NA 20q11.23 NA NA NA NA rs6058388 0.28 0.28 0.3 0.360024 0.2028 0.3075 0.2046 0.5212 0.4683 0.2 0.25 0.25 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691844 NA NA NA NA NA 0.232 NA 3.7972 1272 20 44569930 44569930 C T intronic PCIF1 NA NA NA intronic ENSG00000100982 NA NA NA NA NA 20q13.12 NA NA NA NA rs6065908 0.1 0.1 0.093 0.113419 0.2028 0.0238 0.1009 0.0182 0.2515 0.2 0.02 0.12 0.03 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937888 NA NA NA NA NA 0.072 NA 3.7972 1272 16 3712853 3712853 A G intronic TRAP1 NA NA NA intronic ENSG00000126602,ENSG00000213918 NA NA NA NA NA 16p13.3 NA NA NA NA rs34157278 0.03 0.03 0.018 0.0329473 0.0686 NA 0.0216 0.0045 0.0767 0.06 NA 0.02 0.01 0.0623 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124971 NA NA 0.071977 0.013427 NA 0.022 NA 3.797123 1272 19 39759918 39759918 T G intronic IFNL2 NA NA NA intronic ENSG00000183709 NA NA NA NA NA 19q13.2 NA NA NA NA rs62120533 0.08 0.08 0.06 0.0842652 0.0616 0.1052 0.0605 0.1059 0.0736 0.05 0.08 0.07 0.14 0.0784 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467143 NA NA 0.062996 0.09322 NA 0.087 NA 3.797004 1272 5 125971699 125971699 C T intronic C5orf48 NA NA NA intronic ENSG00000196900 NA NA NA NA NA 5q23.2 NA NA NA NA rs7705714 0.16 0.16 0.175 0.171126 0.0606 0.1458 0.0735 0.4365 0.0215 0.05 0.14 0.09 0.39 0.0881 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373297 NA NA 0.054419 0.368815 NA 0.275 NA 3.796881 1272 13 60590307 60590307 C T ncRNA_intronic DIAPH3-AS1 NA NA NA ncRNA_intronic ENSG00000227528 NA NA NA NA NA 13q21.2 NA NA NA NA rs12429010 0.18 0.18 0.139 0.167133 0.2972 0.003 0.3847 0.059 0.1943 0.29 0.01 0.36 0.06 0.2685 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240565 NA NA 0.304268 0.092236 NA 0.232 NA 3.7966986 1272 22 22316631 22316631 G A intronic TOP3B NA NA NA UTR3 ENSG00000100038 ENST00000413067:c.*33C>T NA NA NA NA 22q11.22 NA NA NA NA rs239915 0.14 0.14 0.156 0.13758 0.1849 NA 0.1484 0.2511 0.0695 0.17 0.0017 0.17 0.25 0.1851 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430232 NA NA NA NA NA 0.217 NA 3.7966667 1272 15 67921174 67921174 G A intronic MAP2K5 NA NA NA ncRNA_exonic ENSG00000259512 NA NA NA NA NA 15q23 NA NA NA NA rs8025889 0.62 0.62 0.596 0.6252 0.5368 0.7946 0.6398 0.4841 0.7219 0.54 0.79 0.64 0.5 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.139933 NA NA NA NA NA 0.623 NA 3.7965333 1272 7 75991425 75991425 G A intergenic YWHAG,SRCRB4D dist=3083;dist=27221 NA NA ncRNA_exonic ENSG00000213548 NA NA NA NA NA 7q11.23 NA NA NA NA rs62476792 0.2 0.2 0.153 0.197684 0.2038 0.3105 0.3127 0.0076 0.2505 0.21 0.29 0.28 0.01 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316037 NA NA NA NA NA 0.116 NA 3.7962 1272 2 128375821 128375821 G C intronic MYO7B NA NA NA intronic ENSG00000169994 NA NA NA NA NA 2q14.3 NA NA NA NA rs13393706 0.15 0.15 0.151 0.171526 0.2038 0.1438 0.1239 0.1256 0.2628 0.19 0.12 0.14 0.14 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388567 NA NA NA NA NA 0.196 NA 3.7962 1272 3 130715415 130715415 T G intronic ATP2C1 NA NA NA intronic ENSG00000017260 NA NA NA NA NA 3q22.1 NA NA NA NA rs17282299 0.13 0.13 0.129 0.139177 0.2038 0.0437 0.1282 0.1142 0.2127 0.19 0.05 0.13 0.14 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301851 NA NA NA NA NA 0.203 NA 3.7962 1272 4 121961279 121961279 A T intronic NDNF NA NA NA intronic ENSG00000173376 NA NA NA NA NA 4q27 NA NA NA NA rs3775915 0.2 0.2 0.166 0.227835 0.2038 0.2351 0.3386 0.1089 0.3272 0.22 0.22 0.3 0.08 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144811 NA NA NA NA NA 0.167 NA 3.7962 1272 5 151777789 151777789 G A intronic NMUR2 NA NA NA intronic ENSG00000132911 NA NA NA NA NA 5q33.1 NA NA NA NA rs958955 0.11 0.11 0.088 0.124201 0.2038 0.0258 0.2954 0.0174 0.1667 0.18 0.03 0.23 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537136 NA NA NA NA NA NA NA 3.7962 1272 5 151777790 151777790 C T intronic NMUR2 NA NA NA intronic ENSG00000132911 NA NA NA NA NA 5q33.1 NA NA NA NA rs1363423 0.11 0.11 0.085 0.122804 0.2038 0.0258 0.2954 0.0121 0.1667 0.17 0.03 0.23 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203412 NA NA NA NA NA NA NA 3.7962 1272 7 106851754 106851754 T C intronic COG5 NA NA NA intronic ENSG00000164597 NA NA NA NA NA 7q22.3 NA NA NA NA rs1018946 0.14 0.14 0.136 0.130192 0.2038 0.1597 0.121 0.0144 0.1871 0.21 0.15 0.14 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571799 NA NA NA NA NA 0.058 NA 3.7962 1272 10 115343852 115343852 C G intronic HABP2 NA NA NA intronic ENSG00000148702 NA NA NA NA NA 10q25.3 NA NA NA NA rs911700 0.28 0.28 0.266 0.304113 0.2038 0.3988 0.2392 0.3086 0.3497 0.19 0.39 0.26 0.29 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124061 NA NA NA NA NA 0.254 NA 3.7962 1272 13 25399702 25399702 C A intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA NA NA 13q12.12 NA NA NA NA rs9553451 0.18 0.18 0.193 0.214856 0.2038 0.0823 0.1427 0.2753 0.3323 0.19 0.09 0.18 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.282413 2.282413 NA NA NA NA 0.217 NA 3.7962 1272 14 73973364 73973364 A G intronic HEATR4 NA NA NA intronic ENSG00000187105 NA NA NA NA NA 14q24.3 NA NA NA NA rs35842680 0.1 0.1 0.09 0.0625 0.2038 0.004 0.0865 0.0113 0.0297 0.24 0.01 0.09 0.02 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.544324 3.544324 NA NA NA NA 0.08 NA 3.7962 1272 19 2405262 2405262 C G intronic TMPRSS9 NA NA NA intronic ENSG00000178297 NA NA NA NA NA 19p13.3 NA NA NA NA rs12975324 0.11 0.11 0.105 0.0902556 0.2038 0.0347 0.1571 0.0174 0.0818 0.19 0.02 0.18 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818895 NA NA NA NA NA 0.181 NA 3.7962 1272 20 62599357 62599357 C T intronic ZNF512B NA NA NA intronic ENSG00000196700 NA NA NA NA NA 20q13.33 NA NA NA NA rs56015416 0.11 0.11 0.105 0.102835 0.2038 0.003 0.1556 0.0507 0.135 0.21 0.0017 0.17 0.04 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328698 NA NA NA NA NA 0.058 NA 3.7962 1272 7 99580907 99580907 C G ncRNA_exonic AZGP1P1 NA NA NA ncRNA_exonic ENSG00000214313 NA NA NA NA NA 7q22.1 NA NA NA NA rs2301806 0.42 0.42 0.378 0.38758 0.4115 0.6488 0.4914 0.112 0.3926 0.42 0.67 0.43 0.12 0.4595 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.162802 NA 0 NA NA NA 0.377 NA 3.7956666 1272 17 18882214 18882214 G A intronic FAM83G,SLC5A10 NA NA NA intronic ENSG00000154025,ENSG00000188522 NA NA NA NA NA 17p11.2 NA NA NA NA rs2074271 0.11 0.11 0.083 0.148962 0.0586 0.2153 0.0461 0.0938 0.3211 0.04 0.24 0.05 0.1 0.1004 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924091 NA NA 0.045389 0.067386 NA 0.08 NA 3.795611 1272 17 20163616 20163616 C T intronic SPECC1 NA NA NA ncRNA_intronic ENSG00000263494 NA NA NA NA NA 17p11.2 NA NA NA NA rs11868429 0.22 0.22 0.249 0.242612 0.172 0.1012 0.1931 0.4909 0.1605 0.18 0.09 0.15 0.49 0.1858 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69796 NA NA 0.18 0.450068 NA 0.312 NA 3.7955333 1272 5 178373319 178373319 G C intronic ZNF454 NA NA NA intronic ENSG00000178187 NA NA NA NA NA 5q35.3 NA NA NA NA rs56954828 0.12 0.12 0.127 0.116414 0.0755 0.123 0.0663 0.2269 0.0378 0.07 0.11 0.08 0.23 0.0723 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513122 NA NA 0.05686 0.189741 NA 0.13 NA 3.79534 1272 3 184295316 184295316 C T intronic EPHB3 NA NA NA intronic ENSG00000145191,ENSG00000182580 NA NA NA NA NA 3q27.1 NA NA NA NA rs7644377 0.2 0.2 0.213 0.202476 0.2048 0.0079 0.1729 0.4599 0.0736 0.19 0.01 0.2 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688259 NA NA NA NA NA 0.254 NA 3.7952 1272 17 20897623 20897623 G A intergenic CCDC144NL,USP22 dist=98170;dist=5283 NA NA ncRNA_intronic ENSG00000233098 NA NA NA NA NA 17p11.2 NA NA NA NA rs12602058 0.18 0.18 0.19 0.190895 0.2048 0.2768 0.2133 0.0106 0.316 0.21 0.28 0.2 0.02 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321138 NA NA NA NA NA 0.196 NA 3.7952 1272 19 56459703 56459703 A G intronic NLRP8 NA NA NA intronic ENSG00000179709 NA NA NA NA NA 19q13.43 NA NA NA NA rs1436077 0.22 0.22 0.195 0.224441 0.2048 0.1855 0.2695 0.2413 0.2301 0.21 0.19 0.27 0.25 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170223 NA NA NA NA NA 0.167 NA 3.7952 1272 21 43248432 43248432 C G intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs28528855 0.29 0.29 0.281 0.297324 0.2048 0.3234 0.2277 0.3691 0.318 0.19 0.35 0.22 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433842 NA NA NA NA NA 0.326 NA 3.7952 1272 12 32793164 32793164 A G intronic FGD4 NA NA NA intronic ENSG00000139132 NA NA NA NA NA 12p11.21 NA NA NA NA rs74073032 0.07 0.07 0.065 0.0609026 0.0835 0.0903 0.0389 0.0477 0.0409 0.08 0.08 0.04 0.05 0.0597 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299926 NA NA 0.061744 0.042442 NA 0.036 NA 3.795056 1273 6 145148407 145148407 C T intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA NA NA NA rs2297845 0.19 0.19 0.197 0.191094 0.0964 0.4395 0.1138 0.0666 0.2556 0.11 0.45 0.13 0.07 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434211 NA NA 0.108737 0.053468 NA 0.094 NA 3.794863 1273 12 85261005 85261005 T C intronic SLC6A15 NA NA NA intronic ENSG00000072041 NA NA NA NA NA 12q21.31 NA NA NA NA rs79714331 0.04 0.04 0.032 0.0265575 0.0815 NA 0.062 0.0015 0.0061 0.09 NA 0.07 NA 0.0473 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453235 NA NA 0.076449 0.016356 NA 0.022 NA 3.794751 1273 5 181762 181762 A G exonic PLEKHG4B NA synonymous SNV PLEKHG4B:NM_052909:exon17:c.A3468G:p.R1156R exonic ENSG00000153404 NA synonymous SNV ENSG00000153404:ENST00000283426:exon17:c.A3468G:p.R1156R NA NA 5p15.33 NA NA NA NA rs11133847 0.43 0.43 0.413 0.435503 0.6332 0.2579 0.4798 0.2685 0.6094 0.63 0.26 0.51 0.25 0.5757 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08207 NA NA 0.663256 0.33931 NA 0.5 NA 3.7945106 1273 8 62479925 62479925 T A intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs61226013 0.13 0.13 0.137 0.129193 0.0636 0.246 0.0937 0.1573 0.0634 0.05 0.26 0.07 0.16 0.0841 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201933 NA NA 0.057907 0.146391 NA 0.116 NA 3.794393 1273 9 137804360 137804360 A G exonic FCN1 NA synonymous SNV FCN1:NM_002003:exon7:c.T570C:p.N190N exonic ENSG00000085265 NA synonymous SNV ENSG00000085265:ENST00000371806:exon7:c.T570C:p.N190N NA NA 9q34.3 NA NA NA NA rs2274845 0.62 0.62 0.661 0.667332 0.6213 0.4673 0.4654 0.91 0.7362 0.63 0.49 0.45 0.9 0.6271 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526365 NA NA 0.623953 0.865411 NA 0.688 NA 3.7943136 1273 6 32610349 32610349 C A intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9272780 0.42 0.42 0.425 0.422724 0.3956 0.5437 0.4726 0.2731 0.4928 0.41 0.57 0.44 0.28 0.4207 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97088 NA NA 0.389443 0.298542 NA 0.471 NA 3.794257 1273 21 22790919 22790919 G A intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA NA NA NA rs10470112 0.12 0.12 0.116 0.11262 0.0666 0.1627 0.1023 0.1672 0.0419 0.07 0.15 0.08 0.19 0.0764 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207312 NA NA 0.062775 0.137137 NA 0.101 NA 3.794225 1273 1 76771495 76771495 G C intronic ST6GALNAC3 NA NA NA intronic ENSG00000184005 NA NA NA NA NA 1p31.1 NA NA NA NA rs11162118 0.26 0.26 0.215 0.256589 0.2058 0.4444 0.2781 0.0968 0.316 0.21 0.44 0.28 0.1 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289751 NA NA NA NA NA 0.188 NA 3.7942 1273 1 205041542 205041542 T C intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA NA NA NA rs3903399 0.27 0.27 0.241 0.269369 0.2058 0.4335 0.3055 0.146 0.3067 0.21 0.44 0.31 0.13 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.513907 1.513907 NA NA NA NA 0.174 NA 3.7942 1273 2 71801564 71801564 G A intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs75127120 0.22 0.22 0.207 0.160543 0.2058 0.3393 0.1729 0.056 0.0624 0.21 0.37 0.2 0.06 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331748 NA NA NA NA NA 0.13 NA 3.7942 1273 7 150209741 150209741 T A intergenic GIMAP8,GIMAP7 dist=33258;dist=2204 NA NA ncRNA_exonic ENSG00000213205 NA NA NA NA NA 7q36.1 NA NA NA NA rs4529373 0.2 0.2 0.219 0.248602 0.2058 0.0655 0.1571 0.4319 0.2986 0.2 0.05 0.18 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800124 NA NA NA NA NA 0.297 NA 3.7942 1273 17 76506665 76506665 T C intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs2376586 0.26 0.26 0.251 0.213458 0.2058 0.3571 0.1585 0.2194 0.1043 0.22 0.36 0.18 0.26 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819639 NA NA NA NA NA 0.196 NA 3.7942 1273 9 130605348 130605348 C A intronic ENG NA NA NA intronic ENSG00000106991 NA NA NA NA NA 9q34.11 NA NA NA NA rs7847860 0.05 0.05 0.049 0.0648962 0.0706 0.002 0.0403 0.0787 0.1227 0.08 0.0017 0.04 0.07 0.0666 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240713 NA NA 0.068721 0.05833 NA 0.058 NA 3.794079 1273 2 73675844 73675844 C T exonic ALMS1 NA synonymous SNV ALMS1:NM_015120:exon8:c.C2187T:p.F729F exonic ENSG00000116127 NA synonymous SNV ENSG00000116127:ENST00000409009:exon7:c.C2061T:p.F687F,ENSG00000116127:ENST00000264448:exon8:c.C2187T:p.F729F,ENSG00000116127:ENST00000377715:exon8:c.C2187T:p.F729F NA NA 2p13.1 NA NA NA NA rs7598901 0.54 0.54 0.479 0.526358 0.6491 0.7798 0.562 0.1021 0.6871 0.64 0.75 0.59 0.09 0.5991 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261176 NA NA 0.624422 0.209071 NA 0.464 NA 3.7940446 1273 10 50686554 50686554 G A intronic ERCC6 NA NA NA intronic ENSG00000225830 NA NA NA NA NA 10q11.23 NA NA NA NA rs11101139 0.04 0.04 0.024 0.0251597 0.0676 NA 0.0576 0.0038 0.0133 0.07 NA 0.07 0.0041 0.0542 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445313 NA NA 0.084302 0.01498 NA 0.022 NA 3.793898 1273 1 204006538 204006538 T C ncRNA_intronic LINC00303 NA NA NA ncRNA_exonic ENSG00000176754 NA NA NA NA NA 1q32.1 NA NA NA NA rs4951291 0.9 0.9 0.899 0.895567 0.8728 0.8016 0.951 0.9917 0.8466 0.88 0.81 0.95 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447339 NA 0.48 NA NA NA 0.804 NA 3.7938666 1273 4 189061823 189061823 G A intronic TRIML1 NA NA NA intronic ENSG00000184108 NA NA NA NA NA 4q35.2 NA NA NA NA rs62354297 0.11 0.11 0.095 0.0980431 0.0666 0.1925 0.0807 0.0643 0.091 0.06 0.22 0.09 0.07 0.0792 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379083 NA NA 0.060581 0.057649 ID=COSN167390;OCCURENCE=1(large_intestine) 0.072 NA 3.793619 1273 19 5645444 5645444 G A intronic SAFB NA NA NA intronic ENSG00000160633 NA NA NA NA NA 19p13.3 NA NA NA NA rs2436502 0.05 0.05 0.034 0.0547125 0.0636 0.0179 0.0562 0.0204 0.1288 0.07 0.02 0.08 0.02 0.076 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027833 NA NA 0.066806 0.023182 NA 0.036 NA 3.793594 1273 1 111857107 111857107 A G intronic CHIA NA NA NA intronic ENSG00000134216 NA NA NA NA NA 1p13.2 NA NA NA NA rs56003810 0.11 0.11 0.1 0.129593 0.0984 0.0933 0.0807 0.1936 0.1472 0.08 0.09 0.09 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033251 NA NA 0.108108 0.165462 NA 0.167 NA 3.793492 1273 3 32491084 32491084 T C intronic CMTM7 NA NA NA intronic ENSG00000153551 NA NA NA NA NA 3p22.3 NA NA NA NA rs2304593 0.06 0.06 0.066 0.048722 0.0815 0.0496 0.0519 0.0303 0.0368 0.09 0.06 0.05 0.04 0.0574 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238593 NA NA 0.067791 0.037449 NA 0.036 NA 3.793309 1273 1 108681600 108681600 T C intronic SLC25A24 NA NA NA intronic ENSG00000085491 NA NA NA NA NA 1p13.3 NA NA NA NA rs34563977 0.15 0.15 0.129 0.138778 0.2068 0.0794 0.1715 0.1067 0.1503 0.2 0.08 0.19 0.12 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034962 NA NA NA NA NA 0.152 NA 3.7932 1273 1 151681635 151681635 T C intronic CELF3 NA NA NA intronic ENSG00000159409 NA NA NA NA NA 1q21.3 NA NA NA NA rs2280475 0.25 0.25 0.215 0.235823 0.2068 0.2371 0.3285 0.2867 0.1299 0.2 0.22 0.32 0.3 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338311 NA NA NA NA NA 0.261 NA 3.7932 1273 9 115969423 115969423 C T intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA NA NA rs4548256 0.19 0.19 0.163 0.190096 0.2068 0.0238 0.2161 0.3298 0.137 0.22 0.02 0.21 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019386 NA NA NA NA NA 0.036 NA 3.7932 1273 16 84695126 84695126 G A intronic KLHL36 NA NA NA intronic ENSG00000135686 NA NA NA NA NA 16q24.1 NA NA NA NA rs12924673 0.2 0.2 0.212 0.19389 0.2068 0.0357 0.111 0.4319 0.0808 0.23 0.04 0.13 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637454 NA NA NA NA NA 0.275 NA 3.7932 1273 17 74397026 74397026 G A intronic UBE2O NA NA NA intronic ENSG00000175931 NA NA NA NA NA 17q25.1 NA NA NA NA rs3809693 0.36 0.36 0.385 0.348243 0.2068 0.4881 0.2911 0.4433 0.2618 0.2 0.53 0.3 0.46 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005678 NA NA NA NA NA 0.442 NA 3.7932 1273 19 17831591 17831591 G A intronic MAP1S NA NA NA intronic ENSG00000130479 NA NA NA NA NA 19p13.11 NA NA NA NA rs56149143 0.11 0.11 0.098 0.110423 0.2068 0.0169 0.1772 0.0673 0.1186 0.2 0.01 0.18 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418299 NA NA NA NA NA 0.196 NA 3.7932 1273 20 30232452 30232452 C T intronic COX4I2 NA NA NA intronic ENSG00000131055 NA NA NA NA NA 20q11.21 NA NA NA NA rs6120970 0.22 0.22 0.228 0.210663 0.2068 NA 0.1527 0.5257 0.047 0.22 NA 0.18 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333204 NA NA NA NA NA 0.21 NA 3.7932 1273 20 30232504 30232504 G A intronic COX4I2 NA NA NA intronic ENSG00000131055 NA NA NA NA NA 20q11.21 NA NA NA NA rs7269866 0.22 0.22 0.219 0.210663 0.2068 NA 0.1527 0.5257 0.047 0.21 NA 0.16 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102336 NA NA NA NA NA 0.21 NA 3.7932 1273 6 107420516 107420516 A C intronic BEND3 NA NA NA intronic ENSG00000178409 NA NA NA Score=550;Name=lod=230 NA 6q21 NA NA NA NA rs4946811 0.36 0.36 0.319 0.358826 0.4155 0.4702 0.5548 0.0628 0.4468 0.4 0.45 0.54 0.07 0.4127 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873375 NA NA 0.378925 0.109169 NA 0.254 NA 3.792875 1273 6 37447994 37447994 C G UTR3 FTSJD2 NM_015050:c.*73C>G NA NA UTR3 ENSG00000137200 ENST00000373451:c.*73C>G NA NA NA NA 6p21.2 NA NA NA NA rs1874736 0.37 0.37 0.344 0.32528 0.5408 0.3264 0.5216 0.0333 0.3579 0.54 0.33 0.54 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.132815 NA NA NA NA NA 0.312 NA 3.7925334 1273 12 132539468 132539468 G A intronic EP400 NA NA NA intronic ENSG00000183495 NA NA NA NA NA 12q24.33 NA NA NA NA rs12321543 0.04 0.04 0.03 0.029353 0.0805 NA 0.0403 0.0038 0.0337 0.08 NA 0.04 0.01 0.0546 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307922 NA NA 0.072442 0.007717 NA 0.051 NA 3.792458 1273 21 22790936 22790936 G A intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA NA NA NA rs986372 0.13 0.13 0.125 0.117412 0.0666 0.1627 0.1023 0.1868 0.0399 0.07 0.15 0.09 0.22 0.0783 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324296 NA NA 0.06273 0.166116 NA 0.101 NA 3.79237 1273 1 109524584 109524584 C A intronic WDR47 NA NA NA intronic ENSG00000085433 NA NA NA NA NA 1p13.3 NA NA NA NA rs487901 0.2 0.2 0.157 0.185304 0.2078 0.2163 0.2536 0.1218 0.1677 0.2 0.23 0.27 0.12 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710423 NA NA NA NA NA 0.268 NA 3.7922 1273 10 92655559 92655559 T A intronic RPP30 NA NA NA intronic ENSG00000148688 NA NA NA NA NA 10q23.31 NA NA NA NA rs10881848 0.26 0.26 0.259 0.285543 0.2078 0.1667 0.1945 0.5257 0.228 0.2 0.18 0.2 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179488 NA NA NA NA NA 0.239 NA 3.7922 1273 10 128829803 128829803 T C intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs10765138 0.15 0.15 0.137 0.125998 0.2078 0.0933 0.2003 0.0461 0.1309 0.2 0.1 0.22 0.05 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572131 NA NA NA NA NA 0.159 NA 3.7922 1273 15 84946326 84946326 G A intergenic GOLGA6L4,DNM1P41 dist=32206;dist=99480 NA NA ncRNA_intronic ENSG00000259683 NA NA NA NA NA 15q25.2 NA NA NA NA rs1808567 0.44 0.44 0.448 0.491014 0.2078 0.6776 0.1988 0.708 0.5041 0.2 0.64 0.24 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417386 NA NA NA NA NA 0.58 NA 3.7922 1273 16 614445 614445 C T intronic C16orf11 NA NA NA intronic ENSG00000161992 NA NA NA NA NA 16p13.3 NA NA NA NA rs57546191 0.16 0.16 0.169 0.190296 0.2078 0.0268 0.1124 0.2231 0.3517 0.22 0.03 0.13 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337847 NA NA NA NA NA 0.181 NA 3.7922 1273 20 30227639 30227639 A G intronic COX4I2 NA NA NA intronic ENSG00000131055 NA NA NA NA NA 20q11.21 NA NA NA NA rs6088858 0.22 0.22 0.186 0.217452 0.2078 NA 0.1527 0.5439 0.0562 0.21 NA 0.16 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568291 NA NA NA NA NA 0.217 NA 3.7922 1273 12 50284583 50284583 A T intronic FAIM2 NA NA NA intronic ENSG00000135472 NA NA NA NA NA 12q13.12 NA NA NA NA rs113855392 0.04 0.04 0.037 0.0327476 0.1083 NA 0.0403 0.0038 0.0225 0.11 NA 0.03 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458296 NA NA 0.099623 0.016618 NA 0.022 NA 3.792077 1273 6 25918688 25918688 G A intronic SLC17A2 NA NA NA intronic ENSG00000112337 NA NA NA NA NA 6p22.2 NA Name=GATA2_(CG2-96),eGFP-GATA2,eGFP-JunD NA NA rs3752421 0.43 0.43 0.386 0.404952 0.4026 0.7093 0.4568 0.1513 0.3998 0.39 0.73 0.41 0.17 0.4155 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.003781 NA NA 0.389884 0.192919 NA 0.254 NA 3.792016 1273 16 11773733 11773733 C G intronic TXNDC11 NA NA NA intronic ENSG00000153066 NA NA NA NA NA 16p13.13 NA NA NA NA rs8191352 0.09 0.09 0.063 0.0754792 0.0736 0.1786 0.085 0.0091 0.0542 0.07 0.17 0.09 0.01 0.0733 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14125 NA NA 0.061144 0.017841 NA 0.058 NA 3.791956 1273 17 73539385 73539385 T C intronic LLGL2 NA NA NA UTR5 ENSG00000073350 ENST00000581713:c.-123T>C NA NA NA NA 17q25.1 NA NA NA NA rs62088546 0.33 0.33 0.316 0.344249 0.3748 0.4504 0.2637 0.1218 0.5613 0.39 0.46 0.29 0.14 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489321 NA NA NA NA NA 0.319 NA 3.7918667 1273 19 50965131 50965131 C T intronic MYBPC2 NA NA NA intronic ENSG00000086967 NA NA NA NA NA 19q13.33 NA NA NA NA rs8113377 0.08 0.08 0.076 0.0854633 0.0706 0.0298 0.0605 0.1952 0.0276 0.06 0.02 0.07 0.18 0.0874 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73137 NA NA 0.050419 0.168405 NA 0.051 NA 3.791581 1273 16 23400194 23400194 G A UTR3 COG7 NM_153603:c.*47C>T NA NA UTR3 ENSG00000168434 ENST00000307149:c.*47C>T,ENST00000561854:c.*452C>T NA NA NA NA 16p12.2 NA NA NA NA rs250587 0.25 0.25 0.236 0.24361 0.17 0.2738 0.1499 0.326 0.2434 0.17 0.3 0.17 0.36 0.203 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094663 NA NA 0.168837 0.276969 NA 0.196 NA 3.7914964 1273 4 26483208 26483208 C T UTR3 CCKAR NM_000730:c.*52G>A NA NA UTR3 ENSG00000163394 ENST00000295589:c.*52G>A NA NA NA NA 4p15.2 NA NA NA NA rs17846984 0.24 0.24 0.227 0.261981 0.2753 0.2212 0.2219 0.2163 0.3804 0.29 0.22 0.23 0.21 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420662 NA NA 0.2667 0.241438 NA 0.174 NA 3.7913334 1273 1 150416913 150416913 A G intronic RPRD2 NA NA NA intronic ENSG00000163125 NA NA NA NA NA 1q21.3 NA NA NA NA rs16836940 0.29 0.29 0.303 0.273762 0.2087 0.0585 0.245 0.6664 0.0521 0.23 0.09 0.25 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001072 NA NA NA NA NA 0.348 NA 3.7913 1273 10 52603659 52603659 C T intronic A1CF NA NA NA intronic ENSG00000148584 NA NA NA NA NA 10q11.23 NA NA NA NA rs10821877 0.16 0.16 0.17 0.169928 0.2087 0.0119 0.1297 0.261 0.1984 0.21 0.01 0.16 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332033 NA NA NA NA NA 0.159 NA 3.7913 1273 12 2720988 2720988 T C intronic CACNA1C NA NA NA intronic ENSG00000151067 NA NA NA NA NA 12p13.33 NA NA NA NA rs216007 0.26 0.26 0.253 0.261781 0.2087 0.3512 0.2262 0.2504 0.2648 0.21 0.38 0.2 0.26 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291099 NA NA NA NA NA 0.312 NA 3.7913 1273 15 68937441 68937441 C T intronic CORO2B NA NA NA intronic ENSG00000103647 NA NA NA NA NA 15q23 NA NA NA NA rs2291534 0.18 0.18 0.172 0.167931 0.2087 0.0635 0.1441 0.2617 0.1237 0.2 0.07 0.17 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168674 NA NA NA NA NA 0.123 NA 3.7913 1273 18 677931 677931 C G intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA NA NA rs2298581 0.27 0.27 0.28 0.285743 0.2087 0.3889 0.2334 0.2443 0.3517 0.2 0.41 0.2 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619077 NA NA NA NA NA 0.304 NA 3.7913 1273 22 37533530 37533530 G C intronic IL2RB NA NA NA intronic ENSG00000100385 NA NA NA NA NA 22q12.3 NA NA NA NA rs3218292 0.16 0.16 0.123 0.152356 0.2087 0.2331 0.2003 0.0113 0.1677 0.23 0.15 0.22 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079157 NA NA NA NA NA 0.138 NA 3.7913 1273 12 11138683 11138683 C T exonic TAS2R50 NA synonymous SNV TAS2R50:NM_176890:exon1:c.G777A:p.P259P exonic ENSG00000212126 NA synonymous SNV ENSG00000212126:ENST00000506868:exon1:c.G777A:p.P259P NA NA 12p13.2 NA NA NA NA rs10772397 0.57 0.57 0.538 0.547125 0.6571 0.755 0.6009 0.1755 0.684 0.66 0.74 0.64 0.2 0.6096 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345792 NA NA 0.608837 0.244212 NA 0.457 NA 3.7911296 1273 13 19751032 19751032 G T intronic TUBA3C NA NA NA intronic ENSG00000198033 NA NA NA NA NA 13q12.11 NA NA NA NA rs36216109 0.05 0.05 0.055 0.0473243 0.0855 0.002 0.0562 0.0552 0.0378 0.07 0.0017 0.06 0.08 0.057 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170868 NA NA 0.066628 0.052429 NA 0.087 NA 3.790872 1273 5 118970770 118970770 C T UTR3 FAM170A NM_182761:c.*41C>T,NM_001163991:c.*41C>T NA NA exonic ENSG00000164334 NA synonymous SNV ENSG00000164334:ENST00000509264:exon4:c.C552T:p.F184F NA NA 5q23.1 NA NA NA NA rs2434600 0.28 0.28 0.253 0.278554 0.4254 0.0863 0.3588 0.1891 0.3896 0.41 0.1 0.38 0.22 0.3624 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.185421 NA NA 0.421528 0.20916 NA 0.355 NA 3.790672 1273 8 49987965 49987965 A C UTR3 C8orf22 NM_001256596:c.*233A>C,NM_001256597:c.*233A>C,NM_001007176:c.*159A>C,NM_001256598:c.*875A>C NA NA UTR3 ENSG00000168333 ENST00000517663:c.*233A>C,ENST00000522267:c.*233A>C,ENST00000399653:c.*159A>C,ENST00000303202:c.*875A>C NA NA NA NA 8q11.21 NA NA NA NA rs7005693 0.56 0.56 0.533 0.512979 0.5427 0.7847 0.6167 0.3018 0.4141 0.55 0.82 0.59 0.26 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472745 NA NA NA NA NA 0.536 NA 3.7906334 1273 19 54801910 54801910 A G intronic LILRA3 NA NA NA intronic ENSG00000170866 NA NA NA NA NA 19q13.42 NA NA NA NA rs3815936 0.19 0.19 0.168 0.208466 0.0427 0.1349 0.1527 0.4387 0.183 0.04 0.2 0.15 0.44 0.1153 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622352 NA NA 0.051472 0.402417 NA 0.225 NA 3.790528 1273 6 31110671 31110671 G C intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265085 0.24 0.24 0.213 0.251997 0.2097 0.3462 0.3314 0.1793 0.2403 0.21 0.29 0.31 0.18 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796358 NA NA NA NA NA 0.217 NA 3.7903 1273 6 102133993 102133993 G A intronic GRIK2 NA NA NA intronic ENSG00000164418 NA NA NA NA NA 6q16.3 NA NA NA NA rs2852565 0.41 0.41 0.396 0.460463 0.2097 0.498 0.3934 0.7179 0.3793 0.2 0.48 0.37 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612501 NA NA NA NA NA 0.377 NA 3.7903 1273 9 115968711 115968711 G A intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA NA NA rs1133619 0.2 0.2 0.214 0.20627 0.2097 0.0228 0.2233 0.3858 0.137 0.22 0.02 0.22 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415233 NA NA NA NA NA 0.196 NA 3.7903 1273 11 113803887 113803887 A G intronic HTR3B NA NA NA intronic ENSG00000149305 NA NA NA NA NA 11q23.2 NA NA NA NA rs2276307 0.19 0.19 0.171 0.211661 0.2097 0.1796 0.2608 0.1157 0.3415 0.21 0.21 0.23 0.1 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423909 NA NA NA NA NA 0.239 NA 3.7903 1273 19 10096650 10096650 T C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs1862474 0.27 0.27 0.234 0.245008 0.2097 0.3611 0.2565 0.2277 0.1769 0.2 0.36 0.27 0.25 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095149 NA NA NA NA NA 0.225 NA 3.7903 1273 19 40225790 40225790 C T intronic CLC NA NA NA intronic ENSG00000105205 NA NA NA NA NA 19q13.2 NA NA NA NA rs76370710 0.16 0.16 0.151 0.185703 0.2097 0.1667 0.2262 0.0575 0.3252 0.21 0.17 0.17 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760416 NA NA NA NA NA 0.116 NA 3.7903 1273 22 41981957 41981957 A G intronic PMM1 NA NA NA intronic ENSG00000100417 NA NA NA NA NA 22q13.2 NA NA NA NA rs5996039 0.29 0.29 0.277 0.339457 0.2097 0.0903 0.5144 0.5106 0.3742 0.2 0.09 0.49 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277099 NA NA NA NA NA 0.355 NA 3.7903 1273 11 113111501 113111501 T C intronic NCAM1 NA NA NA intronic ENSG00000149294 NA NA NA Score=527;Name=lod=184 NA 11q23.2 NA NA NA NA rs2303377 0.43 0.43 0.407 0.413938 0.3936 0.5645 0.4438 0.1929 0.5573 0.42 0.59 0.43 0.24 0.4271 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.967214 1.967214 NA 0.389091 0.225195 NA 0.384 NA 3.790209 1273 17 61565990 61565990 G C intronic ACE NA NA NA UTR3 ENSG00000159640 ENST00000579314:c.*16G>C,ENST00000579204:c.*435G>C NA NA NA NA 17q23.3 NA Name=SRF NA NA rs4341 0.52 0.52 0.435 0.529952 0.4254 0.6746 0.5692 0.413 0.6186 0.43 0.69 0.56 0.43 0.4997 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026694 NA NA 0.451395 0.416251 NA 0.471 NA 3.7901717 1273 19 19258656 19258656 G A intronic MEF2B,MEF2BNB-MEF2B NA NA NA intronic ENSG00000064489,ENSG00000213999 NA NA NA NA NA 19p13.11 NA NA NA NA rs3729767 0.07 0.07 0.05 0.0714856 0.0706 0.0883 0.0533 0.0136 0.1462 0.08 0.09 0.07 0.02 0.0739 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136653 NA NA 0.065349 0.012937 NA 0.08 NA 3.790151 1273 6 43648803 43648803 A G intronic MRPS18A NA NA NA intronic ENSG00000096080 NA NA NA NA NA 6p21.1 NA NA NA NA rs2236345 0.13 0.13 0.119 0.15016 0.0596 0.1062 0.0504 0.3116 0.1411 0.06 0.14 0.05 0.29 0.0904 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.320452 2.320452 NA 0.059884 0.261689 NA 0.065 NA 3.790116 1273 5 115428334 115428334 G T exonic COMMD10 NA synonymous SNV COMMD10:NM_016144:exon4:c.G336T:p.T112T exonic ENSG00000145781 NA synonymous SNV ENSG00000145781:ENST00000506589:exon2:c.G204T:p.T68T,ENSG00000145781:ENST00000274458:exon4:c.G336T:p.T112T,ENSG00000145781:ENST00000507356:exon4:c.G336T:p.T112T,ENSG00000145781:ENST00000515539:exon4:c.G294T:p.T98T NA NA 5q23.1 NA NA NA NA rs1129494 0.48 0.48 0.442 0.441893 0.66 0.3849 0.5346 0.1725 0.5746 0.67 0.39 0.62 0.2 0.5733 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729827 NA NA 0.643605 0.255677 ID=COSM149901;OCCURENCE=1(stomach) 0.42 NA 3.7897616 1273 17 20160925 20160925 C T intronic SPECC1 NA NA NA ncRNA_intronic ENSG00000263494 NA NA NA NA NA 17p11.2 NA NA NA NA rs3751979 0.23 0.23 0.246 0.251398 0.174 0.1012 0.1945 0.5219 0.1605 0.18 0.09 0.15 0.52 0.1892 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.573423 1.573423 NA 0.180465 0.471857 NA 0.312 NA 3.7896683 1273 3 158422506 158422506 G A UTR3 RARRES1 NM_002888:c.*59C>T NA NA UTR3 ENSG00000118849 ENST00000479756:c.*59C>T NA NA NA NA 3q25.32 NA NA NA NA rs4680457 0.55 0.55 0.585 0.583267 0.5437 0.3839 0.5303 0.7716 0.6125 0.56 0.38 0.53 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410431 NA NA NA NA NA 0.565 NA 3.7896334 1273 1 150990913 150990913 G C intronic PRUNE NA NA NA intronic ENSG00000143363 NA NA NA NA NA 1q21.3 NA NA NA NA rs7526955 0.07 0.07 0.069 0.0601038 0.0676 NA 0.0418 0.1483 0.0082 0.08 NA 0.04 0.15 0.0606 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.043072 NA NA 0.082209 0.150931 NA 0.072 NA 3.789591 1273 1 206328647 206328647 G C intronic CTSE NA NA NA intronic ENSG00000196188 NA NA NA NA NA 1q32.1 NA NA NA NA rs28694519 0.24 0.24 0.246 0.250799 0.2107 0.0169 0.1873 0.6316 0.0634 0.21 0.01 0.21 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177231 NA NA NA NA NA 0.341 NA 3.7893 1273 2 232298812 232298812 C T intergenic B3GNT7,NCL dist=32937;dist=20647 NA NA ncRNA_exonic ENSG00000172799 NA NA NA NA NA 2q37.1 NA NA NA NA rs13017932 0.34 0.34 0.362 0.327476 0.2107 0.4435 0.1945 0.4516 0.2546 0.21 0.48 0.2 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.405515 NA NA NA NA NA 0.326 NA 3.7893 1273 4 25790077 25790077 G A intronic SEL1L3 NA NA NA intronic ENSG00000091490 NA NA NA NA NA 4p15.2 NA NA NA NA rs9985515 0.15 0.15 0.146 0.166534 0.2107 0.001 0.1326 0.2284 0.2321 0.21 0.0017 0.15 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316232 NA NA NA NA NA 0.101 NA 3.7893 1273 7 6966365 6966365 T C intergenic CCZ1B,LOC100131257 dist=100439;dist=149036 NA NA ncRNA_intronic ENSG00000226943 NA NA NA NA NA 7p22.1 NA NA NA NA rs61399826 0.13 0.13 0.106 0.126198 0.2107 0.0556 0.0865 0.0991 0.1769 0.21 0.05 0.12 0.1 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292769 NA NA NA NA NA 0.087 NA 3.7893 1273 9 2645201 2645201 C G intronic VLDLR NA NA NA intronic ENSG00000147852 NA NA NA NA NA 9p24.2 NA NA NA NA rs2290465 0.3 0.3 0.243 0.258786 0.2107 0.5992 0.3703 0.0598 0.1472 0.22 0.58 0.37 0.04 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344135 NA NA NA NA NA 0.246 NA 3.7893 1273 11 1475628 1475628 C T intronic BRSK2 NA NA NA intronic ENSG00000174672 NA NA NA NA NA 11p15.5 NA NA NA NA rs66529968 0.16 0.16 0.163 0.146565 0.2107 0.0645 0.147 0.1672 0.137 0.22 0.08 0.17 0.17 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429208 NA NA NA NA NA 0.159 NA 3.7893 1273 11 61490245 61490245 G A intronic DAGLA NA NA NA intronic ENSG00000134780 NA NA NA NA NA 11q12.2 NA NA NA NA rs17156254 0.19 0.19 0.13 0.221246 0.2107 0.1855 0.3228 0.1029 0.3569 0.22 0.16 0.32 0.09 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847351 NA NA NA NA NA 0.239 NA 3.7893 1273 13 33679940 33679940 T C intronic STARD13 NA NA NA intronic ENSG00000133121 NA NA NA NA NA 13q13.1 NA NA NA NA rs9568847 0.24 0.24 0.248 0.239018 0.2107 0.3105 0.134 0.289 0.2014 0.19 0.31 0.15 0.28 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2389 NA NA NA NA NA 0.203 NA 3.7893 1273 14 100793431 100793431 G A intronic SLC25A47 NA NA NA intronic ENSG00000140107 NA NA NA NA NA 14q32.2 NA NA NA NA rs1535464 0.14 0.14 0.143 0.135583 0.2107 0.123 0.1196 0.0749 0.1646 0.21 0.13 0.13 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326786 NA NA NA NA NA 0.181 NA 3.7893 1273 15 75310394 75310394 T C intronic SCAMP5 NA NA NA intronic ENSG00000198794 NA NA NA NA NA 15q24.2 NA NA NA NA rs2289582 0.32 0.32 0.324 0.393371 0.2107 0.4077 0.2478 0.4539 0.5879 0.22 0.41 0.25 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197997 NA NA NA NA NA 0.304 NA 3.7893 1273 15 84566544 84566544 C T intronic ADAMTSL3 NA NA NA intronic ENSG00000156218 NA NA NA NA NA 15q25.2 NA NA NA NA rs11259927 0.3 0.3 0.258 0.338259 0.2107 0.3284 0.4827 0.3116 0.4131 0.2 0.32 0.43 0.33 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062382 NA NA NA NA NA 0.268 NA 3.7893 1273 16 20488107 20488107 C A intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs12598584 0.37 0.37 0.4 0.36262 0.2107 0.5883 0.1556 0.4985 0.2495 0.22 0.58 0.17 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385995 NA NA NA NA NA 0.42 NA 3.7893 1273 19 48254707 48254707 T C intronic GLTSCR2 NA NA NA intronic ENSG00000105373 NA NA NA NA NA 19q13.33 NA NA NA NA rs113310396 0.09 0.09 NA 0.0740815 0.2107 0.006 0.0807 0.0045 0.093 0.21 0.01 0.09 0.01 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411285 NA NA NA NA NA 0.051 NA 3.7893 1273 19 55485786 55485786 G A intronic NLRP2 NA NA NA intronic ENSG00000022556 NA NA NA NA NA 19q13.42 NA NA NA NA rs703468 0.26 0.26 0.253 0.240415 0.2107 0.3542 0.196 0.233 0.1953 0.2 0.41 0.18 0.24 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468059 NA NA NA NA NA 0.268 NA 3.7893 1273 9 139972900 139972900 T C intronic UAP1L1 NA NA NA exonic ENSG00000197355 NA synonymous SNV ENSG00000197355:ENST00000360271:exon1:c.T72C:p.R24R NA NA 9q34.3 NA NA NA NA rs10870176 0.19 0.19 0.194 0.186502 0.3648 0.0268 0.2406 0.0469 0.318 0.37 0.03 0.27 0.07 0.3037 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.854617 NA NA 0.37564 0.105227 NA 0.188 NA 3.7891933 1273 10 43691691 43691691 C T UTR3 RASGEF1A NM_145313:c.*1G>A NA NA UTR3 ENSG00000198915 ENST00000374459:c.*1G>A,ENST00000395810:c.*1G>A,ENST00000395809:c.*1G>A NA NA NA NA 10q11.21 NA NA NA NA rs1254968 0.23 0.23 0.211 0.235224 0.17 0.5169 0.2118 0.0219 0.317 0.18 0.5 0.17 0.02 0.2018 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.052916 2.052916 NA 0.172791 0.058103 NA 0.138 NA 3.7887424 1273 4 86952648 86952648 T C intronic MAPK10 NA NA NA intronic ENSG00000109339 NA NA NA NA NA 4q21.3 NA NA NA NA rs10025882 0.1 0.1 0.106 0.0966454 0.0895 0.005 0.0562 0.2352 0.0399 0.09 0.01 0.06 0.23 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459918 NA NA 0.121851 0.252168 NA 0.109 NA 3.788649 1273 12 1902766 1902766 T G UTR3 CACNA2D4 NM_172364:c.*55A>C NA NA UTR3 ENSG00000151062 ENST00000382722:c.*55A>C,ENST00000537784:c.*662A>C,ENST00000444595:c.*1653A>C,ENST00000545595:c.*662A>C,ENST00000538450:c.*55A>C,ENST00000587995:c.*55A>C,ENST00000585385:c.*662A>C,ENST00000588077:c.*55A>C NA NA NA NA 12p13.33 NA NA NA NA rs2058111 0.42 0.42 0.383 0.383986 0.5447 0.4653 0.3703 0.1596 0.4479 0.55 0.49 0.41 0.13 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22182 NA NA NA NA NA 0.529 NA 3.7886334 1273 8 9564437 9564437 A G exonic TNKS NA synonymous SNV TNKS:NM_003747:exon8:c.A1386G:p.T462T exonic ENSG00000173273 NA synonymous SNV ENSG00000173273:ENST00000310430:exon8:c.A1386G:p.T462T,ENSG00000173273:ENST00000518281:exon8:c.A675G:p.T225T,ENSG00000173273:ENST00000520408:exon8:c.A1386G:p.T462T NA NA 8p23.1 NA NA NA NA rs7006985 0.55 0.55 0.547 0.546725 0.663 0.3829 0.5331 0.5605 0.5869 0.65 0.37 0.6 0.54 0.581 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072146 NA NA 0.634302 0.544485 ID=COSM150448;OCCURENCE=1(stomach) 0.623 NA 3.7883646 1273 1 22214645 22214645 C A intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs3767140 0.36 0.36 0.299 0.342053 0.2117 0.6062 0.4251 0.2867 0.2198 0.22 0.6 0.4 0.26 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157317 NA NA NA NA NA 0.333 NA 3.7883 1273 2 71801267 71801267 G C intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs57041989 0.26 0.26 0.257 0.228834 0.2117 0.3423 0.1873 0.2375 0.1472 0.22 0.37 0.22 0.24 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526484 NA NA NA NA NA 0.181 NA 3.7883 1273 3 160783445 160783445 T C intronic PPM1L NA NA NA intronic ENSG00000163590 NA NA NA NA NA 3q26.1 NA NA NA NA rs6763838 0.26 0.26 0.252 0.288738 0.2117 0.3026 0.33 0.3336 0.2638 0.22 0.27 0.31 0.29 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365925 NA NA NA NA NA 0.341 NA 3.7883 1273 7 139726207 139726207 G A intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA NA NA NA rs2286198 0.37 0.37 0.372 0.347843 0.2117 0.5 0.3862 0.447 0.1697 0.21 0.49 0.35 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760617 NA NA NA NA NA 0.297 NA 3.7883 1273 11 6636300 6636300 A G intronic TPP1 NA NA NA intronic ENSG00000166340 NA NA NA NA NA 11p15.4 NA NA NA NA rs1800723 0.14 0.14 0.124 0.115216 0.2117 0.0863 0.1931 0.0113 0.1309 0.22 0.1 0.19 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796411 NA NA NA NA NA 0.152 NA 3.7883 1273 19 34685617 34685617 C G intronic LSM14A NA NA NA intronic ENSG00000257103 NA NA NA NA NA 19q13.11 NA NA NA NA rs872236 0.12 0.12 0.125 0.0960463 0.2117 0.123 0.0965 0.0106 0.0644 0.2 0.13 0.1 0.01 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400557 NA NA NA NA NA 0.13 NA 3.7883 1273 7 132070086 132070086 C A intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA NA NA rs17221229 0.04 0.04 0.033 0.0255591 0.0765 NA 0.0331 0.0053 0.0215 0.08 NA 0.04 0.0041 0.0565 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560571 NA NA 0.078782 0.017241 NA 0.029 NA 3.788218 1273 19 52002729 52002729 G A exonic SIGLEC12 NA synonymous SNV SIGLEC12:NM_033329:exon2:c.C696T:p.G232G,SIGLEC12:NM_053003:exon3:c.C1050T:p.G350G exonic ENSG00000254521 NA synonymous SNV ENSG00000254521:ENST00000598614:exon2:c.C696T:p.G232G,ENSG00000254521:ENST00000291707:exon3:c.C1050T:p.G350G NA NA 19q13.41 NA NA NA NA rs2009362 0.55 0.55 0.539 0.565096 0.6272 0.37 0.7219 0.5522 0.6084 0.63 0.37 0.7 0.54 0.6142 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176401 NA NA 0.637093 0.569224 NA 0.522 NA 3.7881736 1273 6 135522939 135522939 T C intronic MYB NA NA NA intronic ENSG00000118513 NA NA NA NA NA 6q23.3 NA NA Name=2 NA rs743589 0.45 0.45 0.449 0.476438 0.4115 0.4325 0.4539 0.612 0.4213 0.41 0.41 0.44 0.57 0.4212 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860165 NA NA 0.379385 0.59269 NA 0.464 NA 3.787915 1273 4 88584507 88584507 G A UTR3 DMP1 NM_001079911:c.*35G>A,NM_004407:c.*35G>A NA NA ncRNA_UTR3 ENSG00000152592 NA NA NA NA NA 4q22.1 NA NA NA NA rs2627724 0.28 0.28 0.292 0.321286 0.2366 0.2589 0.2061 0.4652 0.3599 0.24 0.26 0.2 0.44 0.2596 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022441 NA NA 0.21593 0.383795 NA 0.268 NA 3.78787 1273 19 52506985 52506985 T C UTR5 ZNF615 NM_001199324:c.-21A>G,NM_198480:c.-21A>G NA NA UTR5 ENSG00000197619 ENST00000602063:c.-21A>G,ENST00000594083:c.-21A>G,ENST00000599177:c.-21A>G,ENST00000376716:c.-21A>G,ENST00000598071:c.-21A>G,ENST00000601178:c.-21A>G,ENST00000597747:c.-21A>G,ENST00000599631:c.-21A>G NA NA NA NA 19q13.41 NA NA NA NA rs1433089 0.2 0.2 0.188 0.210463 0.1769 0.3998 0.2032 0.031 0.2975 0.19 0.39 0.15 0.04 0.2026 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291919 NA NA 0.166047 0.06128 ID=COSN165897;OCCURENCE=1(breast) 0.159 NA 3.7877864 1273 18 54448778 54448778 G A exonic WDR7 NA synonymous SNV WDR7:NM_052834:exon18:c.G2982A:p.A994A,WDR7:NM_015285:exon19:c.G3081A:p.A1027A exonic ENSG00000091157 NA synonymous SNV ENSG00000091157:ENST00000357574:exon18:c.G2982A:p.A994A,ENSG00000091157:ENST00000254442:exon19:c.G3081A:p.A1027A NA NA 18q21.31 NA NA NA NA rs2302845 0.6 0.6 0.574 0.584864 0.6064 0.6905 0.7233 0.3343 0.6943 0.65 0.7 0.69 0.34 0.6357 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330807 NA NA 0.636977 0.380617 NA 0.58 NA 3.7875896 1273 11 33667333 33667333 A G exonic KIAA1549L NA synonymous SNV KIAA1549L:NM_012194:exon16:c.A4620G:p.T1540T exonic ENSG00000110427 NA synonymous SNV ENSG00000110427:ENST00000321505:exon16:c.A4620G:p.T1540T,ENSG00000110427:ENST00000389726:exon16:c.A4638G:p.T1546T NA NA 11p13 NA NA NA NA rs1033543 0.73 0.73 0.731 0.707668 0.6004 0.7232 0.6066 0.938 0.5624 0.63 0.73 0.62 0.94 0.6534 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870488 NA NA 0.625324 0.881494 NA 0.623 NA 3.7875426 1273 1 45471362 45471362 G A intronic HECTD3 NA NA NA intronic ENSG00000126107 NA NA NA NA NA 1p34.1 NA NA NA NA rs12739545 0.24 0.24 0.209 0.246605 0.2127 0.2897 0.4092 0.1558 0.2444 0.22 0.27 0.34 0.16 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22593 NA NA NA NA NA 0.341 NA 3.7873 1273 3 9985457 9985457 T C intronic CRELD1 NA NA NA intronic ENSG00000163703 NA NA NA NA NA 3p25.3 NA NA NA NA rs9878047 0.37 0.37 0.375 0.38099 0.2127 0.1567 0.3271 0.8132 0.2393 0.22 0.21 0.34 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428551 NA NA NA NA NA 0.565 NA 3.7873 1273 3 10885787 10885787 G A intronic SLC6A11 NA NA NA intronic ENSG00000132164 NA NA NA NA NA 3p25.3 NA NA NA NA rs2304724 0.18 0.18 0.16 0.193091 0.2127 0.2688 0.121 0.0348 0.3599 0.23 0.26 0.14 0.05 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499108 NA NA NA NA NA 0.145 NA 3.7873 1273 3 11925365 11925365 T A intergenic TAMM41,SYN2 dist=37013;dist=120497 NA NA ncRNA_intronic ENSG00000230342 NA NA NA NA NA 3p25.2 NA NA NA NA rs3927162 0.3 0.3 0.235 0.309704 0.2127 0.4107 0.2565 0.3487 0.2904 0.22 0.4 0.28 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41018 NA NA NA NA NA 0.29 NA 3.7873 1273 3 11925383 11925383 A G intergenic TAMM41,SYN2 dist=37031;dist=120479 NA NA ncRNA_intronic ENSG00000230342 NA NA NA NA NA 3p25.2 NA NA NA NA rs3864016 0.3 0.3 0.241 0.309505 0.2127 0.4107 0.2565 0.348 0.2904 0.22 0.4 0.28 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.962842 NA NA NA NA NA 0.29 NA 3.7873 1273 5 168149759 168149759 A G intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs11746295 0.12 0.12 0.102 0.0838658 0.2127 0.0843 0.1052 0.0083 0.0378 0.22 0.1 0.12 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128432 NA NA NA NA NA 0.123 NA 3.7873 1273 19 9771250 9771250 T C intronic ZNF562 NA NA NA intronic ENSG00000171466 NA NA NA NA NA 19p13.2 NA NA NA NA rs10418780 0.32 0.32 0.28 0.364417 0.2127 0.0853 0.4107 0.7844 0.2076 0.21 0.06 0.36 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.981926 NA NA NA NA NA 0.442 NA 3.7873 1273 20 37621180 37621180 A G intronic DHX35 NA NA NA intronic ENSG00000101452 NA NA NA NA NA 20q12 NA NA NA NA rs68173814 0.17 0.17 0.162 0.164936 0.2127 0.131 0.1527 0.1225 0.2168 0.22 0.12 0.16 0.16 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715701 NA NA NA NA NA 0.159 NA 3.7873 1273 3 32490894 32490894 G A intronic CMTM7 NA NA NA intronic ENSG00000153551 NA NA NA NA NA 3p22.3 NA NA NA NA rs2304594 0.1 0.1 0.116 0.0790735 0.1113 0.1022 0.0807 0.0303 0.0869 0.13 0.15 0.08 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491745 NA NA 0.101457 0.043379 NA 0.058 NA 3.787243 1273 4 88416223 88416223 A G exonic SPARCL1 NA synonymous SNV SPARCL1:NM_004684:exon3:c.T111C:p.P37P,SPARCL1:NM_001128310:exon4:c.T111C:p.P37P exonic ENSG00000152583 NA synonymous SNV ENSG00000152583:ENST00000282470:exon3:c.T111C:p.P37P,ENSG00000152583:ENST00000418378:exon4:c.T111C:p.P37P,ENSG00000152583:ENST00000434434:exon4:c.T111C:p.P37P,ENSG00000152583:ENST00000458304:exon4:c.T111C:p.P37P,ENSG00000152583:ENST00000509407:exon4:c.T111C:p.P37P,ENSG00000152583:ENST00000535835:exon4:c.T111C:p.P37P,ENSG00000152583:ENST00000543631:exon4:c.T111C:p.P37P,ENSG00000152583:ENST00000512317:exon5:c.T111C:p.P37P NA NA 4q22.1 NA NA NA NA rs8342 0.7 0.7 0.685 0.751398 0.5984 0.631 0.7939 0.9153 0.7812 0.6 0.62 0.76 0.91 0.6725 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049923 NA NA 0.608605 0.863595 NA 0.725 NA 3.7871616 1273 3 183677501 183677501 A C intronic ABCC5 NA NA NA intronic ENSG00000114770 NA NA NA NA NA 3q27.1 NA NA NA NA rs4148584 0.07 0.07 0.075 0.0640974 0.0805 0.0863 0.0432 0.0545 0.0521 0.09 0.09 0.04 0.05 0.0643 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848794 NA NA 0.068087 0.044784 NA 0.043 NA 3.787113 1273 12 6950403 6950403 G A intronic GNB3 NA NA NA intronic ENSG00000111664 NA NA NA NA NA 12p13.31 NA NA NA NA rs28395781 0.04 0.04 0.041 0.0255591 0.0845 NA 0.0389 0.0023 0.0133 0.08 NA 0.06 0.0041 0.0564 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491189 NA NA 0.07201 0.013194 NA 0.022 NA 3.78709 1273 14 20822219 20822219 G T intronic PARP2 NA NA NA intronic ENSG00000129484 NA NA NA NA NA 14q11.2 NA NA NA NA rs1713412 0.23 0.23 0.26 0.273962 0.0437 0.1944 0.1542 0.6619 0.1534 0.04 0.17 0.13 0.67 0.1259 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.021639 NA NA 0.043361 0.568994 NA 0.254 NA 3.787039 1273 20 6069598 6069598 T C intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs111975159 0.04 0.04 0.04 0.0321486 0.0835 NA 0.0749 0.0038 0.0204 0.08 NA 0.08 0.01 0.053 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512185 NA NA 0.076628 0.014753 NA 0.036 NA 3.786872 1273 10 72520660 72520660 T C UTR3 ADAMTS14 NM_080722:c.*51T>C,NM_139155:c.*51T>C NA NA UTR3 ENSG00000138316 ENST00000373207:c.*51T>C,ENST00000373208:c.*51T>C NA NA NA NA 10q22.1 NA NA NA NA rs10999519 0.23 0.23 0.222 0.21865 0.1879 0.371 0.2305 0.1664 0.1554 0.19 0.37 0.2 0.17 0.1977 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.617976 NA NA 0.161084 0.185967 NA 0.261 NA 3.7866494 1273 14 52622709 52622709 C T intergenic NID2,PTGDR dist=86763;dist=111722 NA NA ncRNA_exonic ENSG00000258440 NA NA NA NA NA 14q22.1 NA NA NA NA rs62003468 0.13 0.13 0.126 0.137181 0.2137 0.0982 0.1095 0.0219 0.274 0.24 0.1 0.12 0.02 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270102 NA NA NA NA NA 0.109 NA 3.7863 1273 19 40184519 40184519 A G intergenic LGALS17A,LGALS14 dist=7506;dist=10427 NA NA ncRNA_intronic ENSG00000269460 NA NA NA NA NA 19q13.2 NA NA NA NA rs72480731 0.17 0.17 0.147 0.195088 0.2137 0.2054 0.2233 0.0424 0.3517 0.22 0.2 0.16 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754567 NA NA NA NA NA 0.109 NA 3.7863 1273 1 45474750 45474750 A T intronic HECTD3 NA NA NA intronic ENSG00000126107 NA NA NA NA NA 1p34.1 NA NA NA NA rs2275599 0.3 0.3 0.276 0.322085 0.2137 0.2897 0.4294 0.4304 0.2444 0.22 0.27 0.36 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37211 NA NA NA NA ID=COSN163071;OCCURENCE=1(breast) 0.428 NA 3.7863 1273 1 45474755 45474755 C G intronic HECTD3 NA NA NA intronic ENSG00000126107 NA NA NA NA NA 1p34.1 NA NA NA NA rs2275598 0.3 0.3 0.277 0.322085 0.2137 0.2897 0.4294 0.4304 0.2444 0.22 0.27 0.36 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27842 NA NA NA NA NA 0.428 NA 3.7863 1273 1 45476489 45476489 A G intronic HECTD3 NA NA NA intronic ENSG00000126107 NA NA NA NA NA 1p34.1 NA NA NA NA rs3806405 0.3 0.3 0.275 0.322085 0.2137 0.2897 0.4294 0.4304 0.2444 0.22 0.27 0.36 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779157 NA NA NA NA NA 0.413 NA 3.7863 1273 3 51975577 51975577 C T intronic RRP9 NA NA NA intronic ENSG00000114767 NA NA NA NA NA 3p21.2 NA NA NA NA rs929533 0.33 0.33 0.398 0.34385 0.2137 0.4157 0.4294 0.4924 0.1421 0.2 0.43 0.38 0.39 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542888 NA NA NA NA NA 0.406 NA 3.7863 1273 5 96442957 96442957 T A intronic LIX1 NA NA NA intronic ENSG00000145721,ENSG00000251606 NA NA NA NA NA 5q15 NA NA NA NA rs316179 0.31 0.31 0.324 0.360623 0.2137 0.2758 0.2767 0.6225 0.3047 0.21 0.25 0.27 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002151 NA NA NA NA NA 0.442 NA 3.7863 1273 5 150429563 150429563 A C intronic TNIP1 NA NA NA intronic ENSG00000145901 NA NA NA NA NA 5q33.1 NA NA NA NA rs2233294 0.13 0.13 0.117 0.102835 0.2137 0.0645 0.1311 0.0386 0.0951 0.22 0.07 0.14 0.05 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24365 NA NA NA NA NA 0.058 NA 3.7863 1273 6 38851305 38851305 C T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs62398567 0.11 0.11 0.116 0.096845 0.2137 0.003 0.121 0.059 0.1074 0.21 0.0035 0.13 0.07 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155384 NA NA NA NA NA 0.145 NA 3.7863 1273 6 158571706 158571706 G C intronic SERAC1 NA NA NA intronic ENSG00000122335 NA NA NA NA NA 6q25.3 NA NA NA NA rs6933878 0.26 0.26 0.262 0.260383 0.2137 0.3026 0.1816 0.3056 0.2597 0.21 0.3 0.17 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530856 NA NA NA NA NA 0.268 NA 3.7863 1273 7 55659085 55659085 T C intergenic VOPP1,FKBP9L dist=18885;dist=89682 NA NA upstream ENSG00000233977 NA NA NA NA NA 7p11.2 NA Name=FOSL2 NA NA rs6961400 0.73 0.73 0.732 0.737819 0.7137 0.877 0.6138 0.5862 0.9121 0.72 0.87 0.7 0.61 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500199 NA NA NA NA NA 0.652 NA 3.7863 1273 10 90497655 90497655 T C intronic LIPK NA NA NA intronic ENSG00000204021 NA NA NA NA NA 10q23.31 NA NA NA NA rs405147 0.24 0.24 0.242 0.25599 0.2137 0.3502 0.2882 0.1959 0.2607 0.21 0.35 0.23 0.17 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051502 NA NA NA NA NA 0.152 NA 3.7863 1273 16 23768710 23768710 C T intronic CHP2 NA NA NA intronic ENSG00000166869 NA NA NA NA NA 16p12.2 NA NA NA NA rs109592 0.19 0.19 0.205 0.217652 0.2137 0.2351 0.1772 0.1467 0.3282 0.2 0.24 0.18 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143724 NA NA NA NA NA 0.13 NA 3.7863 1273 8 139707019 139707019 G A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs62527938 0.11 0.11 0.113 0.122005 0.0676 0.0258 0.0749 0.2935 0.0787 0.06 0.02 0.1 0.29 0.0775 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877206 NA NA 0.068721 0.240127 NA 0.217 NA 3.786179 1273 10 96039708 96039708 C T ncRNA_exonic PLCE1-AS1 NA NA NA ncRNA_exonic ENSG00000268894 NA NA NA NA NA 10q23.33 NA NA NA NA rs2274225 0.27 0.27 0.262 0.278355 0.3002 0.3036 0.2334 0.2315 0.3252 0.29 0.3 0.25 0.22 0.2898 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895984 NA NA 0.290621 0.233244 NA 0.217 NA 3.7860456 1273 9 33618460 33618460 A T intergenic ANKRD18B,ANXA2P2 dist=45459;dist=5763 NA NA exonic ENSG00000205274 NA nonsynonymous SNV ENSG00000205274:ENST00000379435:exon2:c.A346T:p.S116C NA NA 9p13.3 NA NA NA NA rs966447 0.44 0.44 0.411 0.428914 0.5437 0.5278 0.5072 0.1195 0.5716 0.55 0.53 0.52 0.12 0.5036 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.576657 2.576657 0.05 NA NA NA 0.333 NA 3.7860334 1273 1 150300727 150300727 T C intronic PRPF3 NA NA NA intronic ENSG00000117360 NA NA NA NA NA 1q21.3 NA Name=EBF,EBF1_(C-8) NA NA rs834225 0.54 0.54 0.549 0.502796 0.5944 0.2817 0.4942 0.7027 0.3722 0.6 0.31 0.55 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.30184 NA NA 0.619789 0.659817 NA 0.616 NA 3.785811 1273 17 40737117 40737117 G A intronic FAM134C NA NA NA intronic ENSG00000141699 NA NA NA NA NA 17q21.2 NA NA Name=5 NA rs4792992 0.4 0.4 0.38 0.35643 0.4274 0.5298 0.4452 0.1619 0.3047 0.42 0.53 0.48 0.16 0.3833 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.400116 1.400116 NA 0.403605 0.199728 NA 0.261 NA 3.785695 1273 1 55074840 55074840 T A UTR3 ACOT11 NM_147161:c.*55T>A NA NA UTR3 ENSG00000162390 ENST00000343744:c.*55T>A NA NA NA NA 1p32.3 NA NA NA NA rs1617287 0.32 0.32 0.279 0.276757 0.5477 0.1825 0.353 0.0946 0.2873 0.54 0.16 0.4 0.11 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.128318 NA NA NA NA NA 0.283 NA 3.7856334 1273 8 49987910 49987910 G A UTR3 C8orf22 NM_001256596:c.*178G>A,NM_001256597:c.*178G>A,NM_001007176:c.*104G>A,NM_001256598:c.*820G>A NA NA UTR3 ENSG00000168333 ENST00000517663:c.*178G>A,ENST00000522267:c.*178G>A,ENST00000399653:c.*104G>A,ENST00000303202:c.*820G>A NA NA NA NA 8q11.21 NA NA NA NA rs6984804 0.64 0.64 0.617 0.602037 0.5477 0.7857 0.6513 0.6112 0.4213 0.55 0.83 0.63 0.56 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431433 NA NA NA NA NA 0.601 NA 3.7856334 1273 17 3629698 3629698 A G UTR3 GSG2 NM_031965:c.*72A>G NA NA UTR3 ENSG00000177602 ENST00000325418:c.*72A>G NA NA NA NA 17p13.2 NA NA NA NA rs170208 0.36 0.36 0.35 0.369409 0.5477 0.3363 0.3069 0.0915 0.6401 0.55 0.35 0.36 0.1 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043909 NA NA NA NA NA 0.37 NA 3.7856334 1273 6 133849789 133849789 A G intronic EYA4 NA NA NA ncRNA_intronic ENSG00000227954 NA NA NA NA NA 6q23.2 NA NA NA NA rs3822939 0.72 0.72 0.717 0.770367 0.5477 0.8194 0.6916 0.9281 0.7914 0.55 0.82 0.67 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.265828 NA NA NA NA NA 0.819 NA 3.7856333 1273 8 109664963 109664963 C T intergenic EMC2,TMEM74 dist=165827;dist=130383 NA NA ncRNA_exonic ENSG00000253580 NA NA NA NA NA 8q23.1 NA NA NA NA rs2935751 0.21 0.21 0.176 0.179712 0.2147 0.2817 0.1988 0.0983 0.135 0.22 0.26 0.22 0.14 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59328 NA NA NA NA NA 0.217 NA 3.7853 1273 9 100324893 100324893 T A intronic TMOD1 NA NA NA intronic ENSG00000136842 NA NA NA NA NA 9q22.33 NA NA NA NA rs2297163 0.2 0.2 0.195 0.224641 0.2147 0.246 0.1412 0.1815 0.3303 0.22 0.22 0.13 0.19 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141488 NA NA NA NA NA 0.167 NA 3.7853 1273 10 73511658 73511658 G A intronic C10orf54,CDH23 NA NA NA intronic ENSG00000107736,ENSG00000107738 NA NA NA NA NA 10q22.1 NA NA NA NA rs74649893 0.03 0.03 0.033 0.0351438 0.0686 0.002 0.036 0.0045 0.0757 0.06 0.0035 0.04 0.01 0.0655 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147497 NA NA 0.0806 0.01498 NA 0.058 NA 3.7853 1273 12 6030154 6030154 G A intronic ANO2 NA NA NA intronic ENSG00000047617 NA NA NA NA NA 12p13.31 NA NA NA NA rs3825331 0.16 0.16 0.127 0.147564 0.2147 0.1855 0.1427 0.0431 0.184 0.21 0.18 0.17 0.03 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423332 NA NA NA NA NA 0.08 NA 3.7853 1273 12 70951797 70951797 C T intronic PTPRB NA NA NA intronic ENSG00000127329 NA NA NA NA NA 12q15 NA NA NA NA rs3782374 0.17 0.17 0.183 0.199481 0.2147 0.1359 0.1499 0.1808 0.3098 0.22 0.13 0.14 0.19 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363764 NA NA NA NA NA 0.232 NA 3.7853 1273 13 31848823 31848823 A G intronic B3GALTL NA NA NA intronic ENSG00000187676 NA NA NA NA NA 13q12.3 NA NA NA NA rs728930 0.21 0.21 0.191 0.203474 0.2147 0.248 0.1931 0.1626 0.2086 0.22 0.27 0.17 0.16 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127658 NA NA NA NA NA 0.312 NA 3.7853 1273 15 63946203 63946203 G A intronic HERC1 NA NA NA intronic ENSG00000103657 NA NA NA NA NA 15q22.31 NA NA NA NA rs17185876 0.14 0.14 0.15 0.134784 0.2147 0.001 0.1124 0.1399 0.1994 0.23 0.0017 0.14 0.15 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.549855 NA NA NA NA NA 0.087 NA 3.7853 1273 19 7681351 7681351 G A intronic CAMSAP3 NA NA NA intronic ENSG00000076826 NA NA NA NA NA 19p13.2 NA NA NA NA rs807812 0.16 0.16 0.114 0.140375 0.2147 0.1171 0.1715 0.1142 0.1012 0.21 0.12 0.17 0.12 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635656 NA NA NA NA NA 0.145 NA 3.7853 1273 20 6100031 6100031 G A intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs78449803 0.04 0.04 0.039 0.0329473 0.0825 0.002 0.0778 0.0045 0.0204 0.08 NA 0.08 0.01 0.0548 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70642 NA NA 0.077442 0.017249 NA 0.043 NA 3.785258 1273 7 2290685 2290685 C T UTR3 NUDT1 NM_198949:c.*49C>T,NM_198948:c.*49C>T,NM_002452:c.*49C>T,NM_198950:c.*49C>T,NM_198952:c.*49C>T,NM_198954:c.*49C>T,NM_198953:c.*49C>T NA NA UTR3 ENSG00000106268 ENST00000397049:c.*49C>T,ENST00000356714:c.*49C>T,ENST00000397046:c.*49C>T,ENST00000397048:c.*49C>T,ENST00000339737:c.*49C>T,ENST00000343985:c.*49C>T NA NA NA NA 7p22.3 NA NA NA NA rs1062492 0.13 0.13 0.131 0.130591 0.1948 0.0605 0.196 0.0439 0.2076 0.19 0.08 0.19 0.06 0.1684 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229271 NA NA 0.184927 0.06179 NA 0.08 NA 3.7852064 1273 17 39767744 39767744 A G exonic KRT16 NA synonymous SNV KRT16:NM_005557:exon3:c.T624C:p.H208H exonic ENSG00000186832 NA synonymous SNV ENSG00000186832:ENST00000301653:exon3:c.T624C:p.H208H NA NA 17q21.2 NA NA NA NA rs4796681 0.75 0.75 0.727 0.774161 0.6123 1 0.7608 0.7239 0.7853 0.61 1 0.73 0.7 0.6833 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089007 NA NA 0.586047 0.710849 NA 0.732 NA 3.7850196 1274 3 12845166 12845166 C T intronic CAND2 NA NA NA intronic ENSG00000144712 NA NA NA NA NA 3p25.2 NA NA NA NA rs75214970 0.07 0.07 0.055 0.0984425 0.0716 0.1845 0.0677 0.003 0.1881 0.06 0.13 0.08 0.01 0.0771 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028606 NA NA 0.06651 0.01946 NA 0.051 NA 3.78479 1274 6 31083664 31083664 G A UTR3 CDSN NM_001264:c.*138C>T NA NA UTR3 ENSG00000204539 ENST00000376288:c.*138C>T NA NA NA NA 6p21.33 NA NA NA NA rs1042134 0.62 0.62 0.59 0.646965 0.5487 0.7113 0.6138 0.7065 0.6247 0.53 0.68 0.62 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427462 NA NA NA NA NA 0.572 NA 3.7846334 1274 7 130137692 130137692 A G intronic MEST NA NA NA ncRNA_exonic ENSG00000270823 NA NA NA NA NA 7q32.2 NA NA NA NA rs2072574 0.46 0.46 0.396 0.420128 0.5487 0.6131 0.5259 0.0545 0.5082 0.54 0.64 0.51 0.08 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451496 NA NA NA NA NA 0.399 NA 3.7846333 1274 4 119401616 119401616 T C intergenic PRSS12,CEP170P1 dist=127694;dist=35879 NA NA ncRNA_intronic ENSG00000154608 NA NA NA NA NA 4q26 NA NA NA NA rs7659863 0.19 0.19 0.147 0.193291 0.2157 0.2361 0.1513 0.112 0.2658 0.23 0.23 0.18 0.11 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542415 NA NA NA NA NA 0.036 NA 3.7843 1274 10 94967056 94967056 A C intergenic CYP26A1,MYOF dist=129415;dist=99130 NA NA ncRNA_exonic ENSG00000237417 NA NA NA NA NA 10q23.33 NA NA NA NA rs35708466 0.15 0.15 0.141 0.145966 0.2157 0.0704 0.1153 0.1475 0.1718 0.23 0.04 0.15 0.16 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570462 NA NA NA NA NA 0.196 NA 3.7843 1274 12 50642314 50642314 A G intronic LIMA1 NA NA NA intronic ENSG00000050405 NA NA NA NA NA 12q13.12 NA NA NA NA rs3815671 0.34 0.34 0.316 0.333666 0.2157 0.6369 0.4251 0.2005 0.2577 0.22 0.61 0.36 0.18 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038823 NA NA NA NA NA 0.29 NA 3.7843 1274 14 95581899 95581899 G A intronic DICER1 NA NA NA intronic ENSG00000100697 NA NA NA NA NA 14q32.13 NA NA NA NA rs2275182 0.17 0.17 0.164 0.165735 0.2157 0.0397 0.1354 0.3139 0.0654 0.21 0.04 0.14 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515429 NA NA NA NA NA 0.326 NA 3.7843 1274 14 107057408 107057408 A G intergenic LINC00221,NONE dist=105879;dist=NONE NA NA ncRNA_exonic ENSG00000253689 NA NA NA NA NA 14q32.33 NA NA NA NA rs6576195 0.34 0.34 0.308 0.398562 0.2157 0.502 0.353 0.348 0.5808 0.21 0.49 0.31 0.38 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031689 NA NA NA NA ID=COSN393184;OCCURENCE=1(lung) 0.29 NA 3.7843 1274 19 8045862 8045862 G A intronic ELAVL1 NA NA NA intronic ENSG00000066044 NA NA NA NA NA 19p13.2 NA NA NA NA rs75461160 0.1 0.1 0.119 0.0770767 0.2157 0.002 0.0965 0.0416 0.046 0.22 0.0017 0.1 0.05 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611456 NA NA NA NA NA 0.123 NA 3.7843 1274 17 7187123 7187123 T C exonic SLC2A4 NA synonymous SNV SLC2A4:NM_001042:exon4:c.T390C:p.N130N exonic ENSG00000181856 NA synonymous SNV ENSG00000181856:ENST00000317370:exon4:c.T390C:p.N130N,ENSG00000181856:ENST00000424875:exon4:c.T360C:p.N120N,ENSG00000181856:ENST00000570783:exon4:c.T390C:p.N130N,ENSG00000181856:ENST00000571308:exon4:c.T390C:p.N130N,ENSG00000181856:ENST00000572485:exon4:c.T390C:p.N130N NA NA 17p13.1 NA NA NA NA rs5435 0.68 0.68 0.677 0.697484 0.6064 0.625 0.6081 0.913 0.638 0.59 0.64 0.61 0.89 0.6525 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.577709 NA NA 0.623605 0.843395 NA 0.667 NA 3.7841616 1274 9 33618497 33618497 G A intergenic ANKRD18B,ANXA2P2 dist=45496;dist=5726 NA NA exonic ENSG00000205274 NA nonsynonymous SNV ENSG00000205274:ENST00000379435:exon2:c.G383A:p.S128N NA NA 9p13.3 NA NA NA NA rs2380835 0.45 0.45 0.414 0.427516 0.5457 0.5228 0.5058 0.1195 0.5685 0.55 0.53 0.52 0.12 0.5035 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.926191 1.926191 0 NA NA NA 0.319 NA 3.7841334 1274 19 54801916 54801916 A G intronic LILRA3 NA NA NA intronic ENSG00000170866 NA NA NA NA NA 19q13.42 NA NA NA NA rs3815937 0.19 0.19 0.185 0.209465 0.0437 0.1389 0.1527 0.4387 0.183 0.05 0.2 0.15 0.44 0.1158 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432206 NA NA 0.056367 0.407661 NA 0.21 NA 3.784133 1274 12 56525230 56525230 G C intronic ESYT1 NA NA NA intronic ENSG00000139641 NA NA NA NA NA 12q13.2 NA NA NA NA rs73125289 0.03 0.03 0.015 0.0263578 0.0706 NA 0.0375 0.0023 0.0327 0.06 NA 0.04 0.01 0.0562 0.089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693663 NA NA 0.089186 0.017249 NA 0.043 NA 3.784014 1274 15 91168976 91168976 T C intronic CRTC3 NA NA NA ncRNA_intronic ENSG00000259736 NA NA NA NA NA 15q26.1 NA NA NA NA rs3743405 0.17 0.17 0.161 0.179313 0.1918 0.2073 0.111 0.1936 0.1667 0.19 0.15 0.12 0.21 0.17 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092386 NA NA 0.187529 0.189035 NA 0.094 NA 3.7840043 1274 6 31382911 31382911 A G exonic MICA NA nonsynonymous SNV MICA:NM_000247:exon7:c.A1147G:p.T383A ncRNA_UTR3 ENSG00000204520 NA NA NA NA NA 6p21.33 NA NA NA NA rs1882 0.68 0.68 0.652 0.723243 0.5805 0.7778 0.8112 0.6982 0.7853 0.55 0.76 0.8 0.72 0.6222 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128786 NA 0 0.513514 0.646676 NA 0.471 NA 3.783786 1274 4 68374597 68374597 C T exonic CENPC1 NA synonymous SNV CENPC1:NM_001812:exon10:c.G1839A:p.S613S exonic ENSG00000145241 NA synonymous SNV ENSG00000145241:ENST00000513216:exon6:c.G1560A:p.S520S,ENSG00000145241:ENST00000273853:exon10:c.G1839A:p.S613S NA NA 4q13.2 NA NA NA NA rs1056789 0.69 0.69 0.665 0.700479 0.6252 0.8264 0.7536 0.6195 0.7198 0.61 0.82 0.73 0.62 0.6546 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.503211 NA NA 0.603113 0.635733 NA 0.775 NA 3.7837536 1274 16 19518945 19518945 G A intronic GDE1 NA NA NA intronic ENSG00000006007 NA NA NA NA NA 16p12.3 NA NA NA NA rs11860778 0.23 0.23 0.217 0.220647 0.0746 0.3839 0.2522 0.261 0.1258 0.07 0.37 0.21 0.31 0.1418 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190394 NA NA NA NA NA 0.203 NA 3.7836 1274 5 135276314 135276314 C T exonic FBXL21 NA unknown UNKNOWN exonic ENSG00000164616 NA unknown UNKNOWN Score=597;Name=lod=355 NA 5q31.1 NA NA NA NA rs40986 0.79 0.79 0.765 0.813698 0.7197 0.7808 0.7968 0.9175 0.816 0.73 0.78 0.77 0.89 0.7658 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561598 NA NA 0.730985 0.891725 NA 0.674 NA 3.783515 1274 1 200183398 200183398 C A intergenic NR5A2,LINC00862 dist=36848;dist=128274 NA NA ncRNA_exonic ENSG00000233827 NA NA NA Score=481;Name=lod=120 NA 1q32.1 NA NA NA NA rs10919847 0.62 0.62 0.614 0.663938 0.3439 0.8452 0.5965 0.8525 0.5992 0.33 0.85 0.54 0.85 0.5119 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.290659 2.290659 NA 0.360698 0.785974 NA 0.696 NA 3.783502 1274 2 165793968 165793968 G A intronic SLC38A11 NA NA NA intronic ENSG00000169507 NA NA NA NA NA 2q24.3 NA NA NA NA rs17353624 0.04 0.04 0.04 0.058107 0.0686 0.0089 0.0793 0.0484 0.0961 0.06 0.01 0.06 0.04 0.0714 0.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295278 1.295278 NA 0.076628 0.061961 NA 0.138 NA 3.783372 1274 3 197574248 197574248 T G intronic LRCH3 NA NA NA intronic ENSG00000186001 NA NA NA NA NA 3q29 NA NA NA NA rs73089359 0.11 0.11 0.098 0.113618 0.0736 0.1845 0.0908 0.1188 0.091 0.08 0.17 0.07 0.11 0.0817 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947594 NA NA 0.061395 0.094871 NA 0.08 NA 3.783305 1274 4 37841942 37841942 T C intronic PGM2 NA NA NA intronic ENSG00000169299 NA NA NA NA NA 4p14 NA NA NA NA rs2714559 0.34 0.34 0.363 0.359425 0.2167 0.3046 0.2839 0.708 0.1452 0.21 0.26 0.27 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300817 NA NA NA NA NA 0.428 NA 3.7833 1274 6 15507250 15507250 G A intronic JARID2 NA NA NA intronic ENSG00000008083 NA NA NA NA NA 6p22.3 NA NA NA NA rs35947355 0.12 0.12 0.111 0.108227 0.2167 0.002 0.1239 0.1051 0.0992 0.21 NA 0.15 0.09 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858909 NA NA NA NA NA 0.188 NA 3.7833 1274 6 33131893 33131893 C T intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA NA NA 6p21.32 NA NA NA NA rs9405002 0.29 0.29 0.275 0.270567 0.2167 0.4464 0.3516 0.174 0.2178 0.22 0.42 0.39 0.17 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199998 NA NA NA NA NA 0.333 NA 3.7833 1274 8 92374753 92374753 A G intronic SLC26A7 NA NA NA intronic ENSG00000147606 NA NA NA NA NA 8q21.3 NA NA NA NA rs17722765 0.11 0.11 0.124 0.127796 0.2167 0.0079 0.1542 0.0908 0.1912 0.2 0.01 0.15 0.07 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422966 NA NA NA NA NA 0.188 NA 3.7833 1274 9 129728012 129728012 T A intronic RALGPS1 NA NA NA intronic ENSG00000136828 NA NA NA NA NA 9q33.3 NA NA NA NA rs10819257 0.22 0.22 0.205 0.235423 0.2167 0.4226 0.1931 0.0113 0.3947 0.2 0.42 0.2 0.02 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52965 NA NA NA NA NA 0.246 NA 3.7833 1274 10 95419032 95419032 C A intronic PDE6C NA NA NA intronic ENSG00000095464 NA NA NA NA NA 10q23.33 NA NA NA NA rs720298 0.26 0.26 0.25 0.25619 0.2167 0.2619 0.2133 0.3608 0.18 0.21 0.26 0.23 0.34 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556628 NA NA NA NA ID=COSN163711;OCCURENCE=1(breast) 0.304 NA 3.7833 1274 12 117594372 117594372 G A intronic FBXO21 NA NA NA intronic ENSG00000135108 NA NA NA NA NA 12q24.22 NA NA NA NA rs10850776 0.21 0.21 0.209 0.222244 0.2167 0.4226 0.1715 0.028 0.32 0.21 0.38 0.19 0.04 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083377 NA NA NA NA NA 0.188 NA 3.7833 1274 21 47805663 47805663 C G intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2073378 0.3 0.3 0.32 0.338858 0.2167 0.2044 0.2767 0.5923 0.3047 0.23 0.21 0.24 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.200303 NA NA NA NA NA 0.348 NA 3.7833 1274 8 139668120 139668120 C T intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs73445463 0.05 0.05 0.038 0.0373403 0.0805 0.0188 0.0389 0.028 0.0235 0.08 0.02 0.04 0.03 0.0625 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092487 NA NA 0.073721 0.037903 NA 0.014 NA 3.783279 1274 19 55044387 55044387 T C ncRNA_intronic KIR3DX1 NA NA NA intronic ENSG00000104970 NA NA NA NA NA 19q13.42 NA NA NA NA rs62131628 0.54 0.54 0.513 0.511581 0.5507 0.7798 0.5576 0.2519 0.5133 0.54 0.8 0.54 0.25 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69806 NA NA NA NA NA 0.493 NA 3.7826333 1274 9 33618358 33618358 A G intergenic ANKRD18B,ANXA2P2 dist=45357;dist=5865 NA NA exonic ENSG00000205274 NA nonsynonymous SNV ENSG00000205274:ENST00000379435:exon2:c.A244G:p.T82A NA NA 9p13.3 NA NA NA NA rs855512 0.47 0.47 0.453 0.449281 0.5437 0.5198 0.5187 0.1967 0.5716 0.55 0.53 0.54 0.22 0.5072 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881055 NA 0.04 NA NA NA 0.384 NA 3.7824334 1274 1 8397803 8397803 C T intronic SLC45A1 NA NA NA intronic ENSG00000162426 NA NA NA NA NA 1p36.23 NA NA NA NA rs7520373 0.34 0.34 0.305 0.313698 0.2177 0.6438 0.3746 0.1573 0.2403 0.22 0.68 0.32 0.15 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009837 NA NA NA NA NA 0.21 NA 3.7823 1274 3 172321768 172321768 C T intergenic TNFSF10,NCEH1 dist=80471;dist=26667 NA NA ncRNA_exonic ENSG00000224426 NA NA NA NA NA 3q26.31 NA NA NA NA rs17524400 0.16 0.16 0.152 0.140176 0.2177 0.1528 0.1888 0.0325 0.1585 0.21 0.16 0.23 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04669 NA NA NA NA NA 0.21 NA 3.7823 1274 5 7521083 7521083 G A intronic ADCY2 NA NA NA intronic ENSG00000078295 NA NA NA NA NA 5p15.31 NA NA NA NA rs3828628 0.22 0.22 0.229 0.226837 0.2177 0.3165 0.183 0.0946 0.3538 0.21 0.34 0.22 0.08 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102076 NA NA NA NA NA 0.196 NA 3.7823 1274 5 153835378 153835378 C G intronic SAP30L NA NA NA intronic ENSG00000164576 NA NA NA NA NA 5q33.2 NA NA NA NA rs1007404 0.24 0.24 0.212 0.243411 0.2177 0.2946 0.4265 0.1195 0.2546 0.21 0.3 0.38 0.11 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225736 NA NA NA NA NA 0.239 NA 3.7823 1274 7 2955097 2955097 C T intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs2301920 0.36 0.36 0.345 0.400759 0.2177 0.6042 0.3847 0.3843 0.4131 0.22 0.59 0.33 0.35 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167513 NA NA NA NA NA 0.283 NA 3.7823 1274 12 133313372 133313372 C A intronic ANKLE2 NA NA NA intronic ENSG00000176915 NA NA NA NA NA 12q24.33 NA NA NA NA rs7313956 0.39 0.39 0.379 0.372005 0.2177 0.6002 0.4496 0.3949 0.2096 0.22 0.61 0.42 0.39 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932133 NA NA NA NA NA 0.37 NA 3.7823 1274 17 72862809 72862809 T C intronic FDXR NA NA NA intronic ENSG00000161513 NA NA NA NA NA 17q25.1 NA NA NA NA rs509911 0.22 0.22 0.188 0.187101 0.2177 0.38 0.1585 0.0333 0.1851 0.22 0.4 0.16 0.03 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265972 NA NA NA NA NA 0.167 NA 3.7823 1274 17 74015819 74015819 A T intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs79643517 0.13 0.13 NA 0.14377 0.2177 0.004 0.1383 0.1505 0.2065 0.2 0.0017 0.16 0.17 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623401 NA NA NA NA NA 0.261 NA 3.7823 1274 19 36017469 36017469 C T intronic SBSN NA NA NA intronic ENSG00000189001 NA NA NA NA NA 19q13.12 NA NA NA NA rs62113963 0.18 0.18 0.188 0.196086 0.2177 0.1359 0.1398 0.2398 0.2168 0.21 0.11 0.17 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777276 NA NA NA NA NA 0.21 NA 3.7823 1274 19 51010692 51010692 T C intronic JOSD2 NA NA NA intronic ENSG00000161677 NA NA NA NA NA 19q13.33 NA NA NA NA rs7257671 0.28 0.28 0.288 0.30012 0.2177 0.0744 0.2651 0.6528 0.1656 0.2 0.05 0.3 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088314 NA NA NA NA NA 0.29 NA 3.7823 1274 22 42191636 42191636 A G intronic MEI1 NA NA NA intronic ENSG00000167077 NA NA NA NA NA 22q13.2 NA NA NA NA rs139559 0.33 0.33 0.303 0.360423 0.2177 0.0913 0.5403 0.6354 0.2853 0.21 0.09 0.52 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783887 NA NA NA NA ID=COSN166764;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.377 NA 3.7823 1274 19 48533741 48533741 T G UTR3 CABP5 NM_019855:c.*73A>C NA NA UTR3 ENSG00000105507 ENST00000293255:c.*73A>C NA NA NA NA 19q13.33 NA NA NA NA rs35341698 0.17 0.17 0.14 0.162141 0.2704 0.0347 0.2363 0.1362 0.1646 0.26 0.04 0.27 0.12 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.588465 1.588465 NA 0.280641 0.128613 NA 0.188 NA 3.7822924 1274 7 23293746 23293746 A G intronic GPNMB NA NA NA intronic ENSG00000136235 NA NA NA NA NA 7p15.3 NA NA Name=32 NA rs199347 0.48 0.48 0.496 0.516773 0.3827 0.2837 0.3963 0.9584 0.3834 0.37 0.27 0.42 0.95 0.4222 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583541 NA NA 0.412907 0.855424 NA 0.486 NA 3.782193 1274 22 23029698 23029698 T C intergenic GGTLC2,MIR650 dist=39330;dist=135572 NA NA exonic ENSG00000211659 NA synonymous SNV ENSG00000211659:ENST00000390305:exon2:c.T300C:p.D100D Score=475;Name=lod=114 NA 22q11.22 NA Name=PU.1 NA NA rs443756 0.96 0.96 0.954 0.971446 0.9056 1 0.9539 0.9992 0.9847 0.9 1 0.93 1 0.9238 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.216259 NA NA 0.888464 0.977419 NA 0.826 NA 3.782136 1274 14 100172899 100172899 A G intronic CYP46A1 NA NA NA UTR5 ENSG00000036530 ENST00000554176:c.-101A>G NA NA NA NA 14q32.2 NA NA NA NA rs2273839 0.28 0.28 0.29 0.289137 0.3847 0.2222 0.2594 0.2065 0.3926 0.39 0.2 0.26 0.2 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49031 NA NA NA NA NA 0.29 NA 3.7819667 1274 5 109181682 109181682 A T exonic MAN2A1 NA synonymous SNV MAN2A1:NM_002372:exon18:c.A2817T:p.S939S exonic ENSG00000112893 NA synonymous SNV ENSG00000112893:ENST00000261483:exon18:c.A2817T:p.S939S NA NA 5q21.3 NA NA NA NA rs3186988 0.75 0.75 0.769 0.746805 0.6093 0.8819 0.6369 0.9047 0.6135 0.61 0.89 0.62 0.88 0.6546 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714521 NA NA 0.62093 0.855359 NA 0.725 NA 3.7818366 1274 17 34305164 34305164 A C intronic CCL16 NA NA NA intronic ENSG00000161573 NA NA NA NA NA 17q12 NA NA NA NA rs11080369 0.09 0.09 0.08 0.104233 0.0716 0.0694 0.1628 0.1619 0.0542 0.07 0.04 0.13 0.15 0.08 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172666 NA NA 0.066628 0.14049 NA 0.123 NA 3.781772 1274 1 153122310 153122310 G A UTR3 SPRR2G NM_001014291:c.*55C>T NA NA UTR3 ENSG00000159516 ENST00000368748:c.*55C>T NA NA NA NA 1q21.3 NA NA NA NA rs510277 0.48 0.48 0.483 0.426518 0.5517 0.5149 0.4294 0.208 0.5 0.54 0.56 0.51 0.27 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038651 NA NA NA NA NA 0.464 NA 3.7816334 1274 5 79351411 79351411 T C intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs426623 0.56 0.56 NA 0.569089 0.5517 0.5139 0.5476 0.652 0.547 0.54 0.51 0.56 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107055 NA NA NA NA NA 0.514 NA 3.7816333 1274 5 79351544 79351544 G A intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs412379 0.56 0.56 0.561 0.569289 0.5517 0.5139 0.5476 0.6536 0.546 0.54 0.51 0.56 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582827 NA NA NA NA NA 0.507 NA 3.7816333 1274 1 175097357 175097357 C G intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs2269652 0.26 0.26 0.257 0.247404 0.2187 0.2609 0.2363 0.32 0.1728 0.22 0.28 0.22 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186693 NA NA NA NA NA 0.188 NA 3.7813 1274 6 18459736 18459736 A C intronic RNF144B NA NA NA intronic ENSG00000137393 NA NA NA NA NA 6p22.3 NA NA NA NA rs2057555 0.25 0.25 0.231 0.230831 0.2187 0.1677 0.2089 0.3563 0.1544 0.22 0.18 0.2 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70831 NA NA NA NA NA 0.297 NA 3.7813 1274 12 117603161 117603161 T C intronic FBXO21 NA NA NA intronic ENSG00000135108 NA NA NA NA NA 12q24.22 NA NA NA NA rs2270791 0.23 0.23 0.238 0.243011 0.2187 0.4425 0.1873 0.0855 0.3149 0.22 0.4 0.2 0.09 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739688 NA NA NA NA NA 0.246 NA 3.7813 1274 12 117611934 117611934 C T intronic FBXO21 NA NA NA intronic ENSG00000135108 NA NA NA NA NA 12q24.22 NA NA NA NA rs57632063 0.23 0.23 0.214 0.241613 0.2187 0.4435 0.1859 0.0756 0.3211 0.22 0.4 0.2 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397801 NA NA NA NA NA 0.232 NA 3.7813 1274 12 117612357 117612357 T C intronic FBXO21 NA NA NA intronic ENSG00000135108 NA NA NA NA NA 12q24.22 NA NA NA NA rs3817015 0.23 0.23 0.23 0.243011 0.2187 0.4435 0.1873 0.0855 0.3139 0.22 0.4 0.2 0.09 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173709 NA NA NA NA NA 0.246 NA 3.7813 1274 13 51953541 51953541 C T intronic INTS6 NA NA NA intronic ENSG00000102786 NA NA NA NA NA 13q14.3 NA NA NA NA rs2274061 0.21 0.21 0.185 0.247204 0.2187 0.2183 0.1801 0.2239 0.3855 0.22 0.19 0.18 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161456 NA NA NA NA NA 0.239 NA 3.7813 1274 13 51963348 51963348 T C intronic INTS6 NA NA NA intronic ENSG00000102786 NA NA NA NA NA 13q14.3 NA NA NA NA rs2274929 0.21 0.21 0.201 0.248403 0.2187 0.2183 0.1816 0.2269 0.3865 0.22 0.19 0.18 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347182 NA NA NA NA NA 0.246 NA 3.7813 1274 19 52381862 52381862 C A intronic ZNF577 NA NA NA intronic ENSG00000161551 NA NA NA NA NA 19q13.41 NA NA NA NA rs12150982 0.31 0.31 0.305 0.378994 0.2187 0.3006 0.2781 0.5257 0.498 0.21 0.31 0.3 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044289 NA NA NA NA NA 0.355 NA 3.7813 1274 20 3276821 3276821 C T intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA NA NA rs2236103 0.24 0.24 0.26 0.23762 0.2187 0.1657 0.1873 0.3767 0.1789 0.22 0.19 0.15 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646629 NA NA NA NA NA 0.283 NA 3.7813 1274 20 3296279 3296279 G A intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA NA NA rs2236115 0.24 0.24 0.261 0.237819 0.2187 0.1657 0.1873 0.3767 0.18 0.22 0.19 0.15 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009489 NA NA NA NA NA 0.283 NA 3.7813 1274 21 34837786 34837786 A G intronic TMEM50B NA NA NA intronic ENSG00000142188,ENSG00000159128 NA NA NA NA NA 21q22.11 NA NA NA NA rs2243511 0.28 0.28 0.262 0.286941 0.2187 0.4266 0.2176 0.2027 0.3763 0.23 0.44 0.24 0.2 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544325 NA NA NA NA NA 0.246 NA 3.7813 1274 21 46924931 46924931 G A intronic COL18A1 NA NA NA intronic ENSG00000173638,ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs9980752 0.21 0.21 0.188 0.215455 0.2187 0.3175 0.2133 0.0628 0.3149 0.21 0.29 0.25 0.07 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487668 NA NA NA NA NA 0.094 NA 3.7813 1274 22 50169157 50169157 A G intronic BRD1 NA NA NA intronic ENSG00000100425 NA NA NA NA NA 22q13.33 NA NA NA NA rs138823 0.36 0.36 0.396 0.422324 0.2187 0.2004 0.1974 0.8442 0.4499 0.23 0.19 0.21 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50465 NA NA NA NA NA 0.435 NA 3.7813 1274 9 79014173 79014173 A G ncRNA_exonic RPSAP9 NA NA NA ncRNA_exonic ENSG00000234618 NA NA NA Score=810;Name=lod=2616 NA 9q21.13 NA NA NA NA rs7033581 0.97 0.97 0.961 0.967452 0.9344 0.998 0.9625 0.9962 0.9346 0.94 1 0.96 0.99 0.9511 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060398 NA NA NA NA NA 0.804 NA 3.7811666 1274 X 295097 295097 C T UTR3 PPP2R3B NM_013239:c.*5G>A NA NA UTR3 ENSG00000167393 ENST00000390665:c.*5G>A NA NA NA NA Xp22.33 NA NA NA NA rs14127 0.24 0.24 0.21463 NA NA NA NA NA NA 0.3 0.22 0.24 0.16 0.2741 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009477 NA NA 0.278188 0.189311 NA 0.181 NA 3.7810454 1274 19 52471785 52471785 T A intronic ZNF350 NA NA NA ncRNA_intronic ENSG00000269235 NA NA NA NA NA 19q13.41 NA NA NA NA rs2278418 0.25 0.25 0.26 0.266973 0.1889 0.2371 0.1801 0.3744 0.2945 0.2 0.21 0.18 0.41 0.2078 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334806 NA NA 0.15593 0.375397 NA 0.261 NA 3.7807033 1274 5 109125258 109125258 C G intronic MAN2A1 NA NA NA intronic ENSG00000112893 NA NA NA NA NA 5q21.3 NA NA NA NA rs17162241 0.06 0.06 0.06 0.0854633 0.0606 0.005 0.0403 0.177 0.1022 0.05 NA 0.06 0.15 0.0937 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028218 NA NA 0.064999 0.133638 NA 0.065 NA 3.780701 1274 5 79354702 79354702 C T intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs411943 0.56 0.56 0.56 0.570288 0.5527 0.5198 0.5476 0.6483 0.5511 0.54 0.51 0.56 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080195 NA NA NA NA NA 0.514 NA 3.7806333 1274 11 108693244 108693244 A G intronic DDX10 NA NA NA ncRNA_exonic ENSG00000255379 NA NA NA NA NA 11q22.3 NA NA NA NA rs1824665 0.43 0.43 0.388 0.398962 0.5527 0.4345 0.585 0.0908 0.4888 0.56 0.43 0.59 0.11 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355285 NA NA NA NA NA 0.399 NA 3.7806333 1274 17 6330403 6330403 A G intronic AIPL1 NA NA NA intronic ENSG00000129221 NA NA NA NA NA 17p13.2 NA NA NA NA rs925615 0.06 0.06 0.057 0.0593051 0.0736 0.0933 0.0346 0.0401 0.0532 0.07 0.07 0.03 0.04 0.0654 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.002294 2.002294 NA 0.080698 0.057876 NA 0.043 NA 3.780302 1274 6 38691352 38691352 C T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs72856597 0.12 0.12 0.1 0.104832 0.2197 0.004 0.1571 0.0408 0.1401 0.23 0.0035 0.16 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245984 NA NA NA NA NA 0.159 NA 3.7803 1274 6 38691360 38691360 C T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs72856598 0.11 0.11 0.093 0.0970447 0.2197 0.004 0.1571 0.0113 0.1401 0.23 0.0035 0.16 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49742 NA NA NA NA NA 0.152 NA 3.7803 1274 12 2937013 2937013 G C intronic NRIP2 NA NA NA intronic ENSG00000053702,ENSG00000111203 NA NA NA NA NA 12p13.33 NA NA NA NA rs4765998 0.31 0.31 0.304 0.294928 0.2197 0.3304 0.2349 0.4909 0.1135 0.22 0.33 0.24 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038593 NA NA NA NA NA 0.232 NA 3.7803 1274 16 24883316 24883316 T G intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs2667745 0.14 0.14 0.131 0.138978 0.2197 0.0169 0.1527 0.174 0.1247 0.21 0.02 0.17 0.16 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754691 NA NA NA NA NA 0.239 NA 3.7803 1274 16 24883338 24883338 C T intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs2667746 0.14 0.14 0.13 0.138179 0.2197 0.0169 0.1527 0.171 0.1247 0.21 0.02 0.17 0.16 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356421 NA NA NA NA NA 0.239 NA 3.7803 1274 22 50170937 50170937 G A intronic BRD1 NA NA NA intronic ENSG00000100425 NA NA NA NA NA 22q13.33 NA NA NA NA rs4469 0.33 0.33 0.367 0.390375 0.2197 0.2123 0.1902 0.7413 0.4172 0.23 0.2 0.21 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130109 NA NA NA NA NA 0.464 NA 3.7803 1274 16 70016697 70016697 G A ncRNA_intronic PDXDC2P NA NA NA ncRNA_intronic ENSG00000196696 NA NA NA NA NA 16q22.1 NA NA NA NA rs8047236 0.61 0.61 0.64 0.689097 0.3857 0.8869 0.4625 0.9357 0.6247 0.36 0.82 0.47 0.85 0.5007 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032935 NA NA NA NA NA 0.036 NA 3.7802666 1274 21 39947697 39947697 A G intronic ERG NA NA NA intronic ENSG00000157554 NA NA NA NA NA 21q22.2 NA NA NA NA rs8129955 0.13 0.13 0.146 0.128994 0.1133 0.0149 0.0677 0.2965 0.0798 0.13 0.02 0.06 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449245 NA NA 0.106537 0.247832 NA 0.167 NA 3.780163 1274 18 52895418 52895418 G A intronic TCF4 NA NA NA intronic ENSG00000196628 NA NA NA NA NA 18q21.2 NA NA NA NA rs6567210 0.06 0.06 0.066 0.0764776 0.0845 0.005 0.0476 0.112 0.1145 0.08 0.0017 0.07 0.1 0.0655 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218262 NA NA 0.070233 0.109396 NA 0.051 NA 3.779767 1274 6 88366708 88366708 C T intronic ORC3 NA NA NA intronic ENSG00000135336 NA NA NA NA NA 6q15 NA NA Name=41 NA rs2307373 0.39 0.39 0.353 0.335064 0.4314 0.4782 0.4035 0.1551 0.2832 0.42 0.51 0.38 0.21 0.3873 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403934 NA NA 0.401628 0.192919 NA 0.449 NA 3.779672 1274 1 27089446 27089446 G C intronic ARID1A NA NA NA intronic ENSG00000117713 NA NA NA NA NA 1p36.11 NA NA NA NA rs34681611 0.05 0.05 0.035 0.0385383 0.0726 0.0288 0.049 0.0076 0.0481 0.07 0.03 0.06 0.01 0.0651 0.083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988815 NA NA 0.082674 0.021788 NA 0.036 NA 3.779626 1274 X 1409420 1409420 G T intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs73618037 0.13 0.13 0.1097 NA NA NA NA NA NA 0.09 0.11 0.13 0.2 0.1297 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741372 NA NA 0.090782 0.175216 NA 0.109 NA 3.779518 1274 3 124377196 124377196 G A intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs10804562 0.2 0.2 0.181 0.182308 0.2207 0.255 0.2478 0.0915 0.1442 0.22 0.23 0.23 0.1 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609934 NA NA NA NA NA 0.138 NA 3.7793 1274 7 2252986 2252986 G A intronic MAD1L1 NA NA NA intronic ENSG00000002822 NA NA NA NA NA 7p22.3 NA NA NA NA rs1002170 0.13 0.13 0.107 0.124601 0.2207 0.0565 0.2104 0.0182 0.1789 0.21 0.07 0.19 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467713 NA NA NA NA ID=COSN167946;OCCURENCE=1(large_intestine) 0.065 NA 3.7793 1274 11 17483038 17483038 C T intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA NA NA 11p15.1 NA NA NA NA rs2074317 0.12 0.12 0.117 0.100439 0.2207 0.0655 0.147 0.025 0.0818 0.21 0.06 0.17 0.03 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33556 NA NA NA NA NA 0.152 NA 3.7793 1274 11 122677047 122677047 T C intronic UBASH3B NA NA NA intronic ENSG00000154127 NA NA NA NA NA 11q24.1 NA NA NA NA rs3819248 0.2 0.2 0.181 0.200479 0.2207 0.1171 0.304 0.1974 0.1963 0.2 0.14 0.32 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.345628 1.345628 NA NA NA NA 0.225 NA 3.7793 1274 19 53886286 53886286 T C ncRNA_exonic ZNF525 NA NA NA UTR3 ENSG00000203326 ENST00000474037:c.*1014T>C,ENST00000467003:c.*1014T>C NA NA NA NA 19q13.42 NA NA NA NA rs4324256 0.69 0.69 0.661 0.695687 0.7207 0.6062 0.804 0.7042 0.6738 0.72 0.59 0.77 0.7 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67711 NA NA NA NA NA 0.754 NA 3.7793 1274 20 62594899 62594899 G A intronic ZNF512B NA NA NA intronic ENSG00000196700 NA NA NA NA NA 20q13.33 NA NA NA NA rs817324 0.12 0.12 0.104 0.0938498 0.2207 0.0149 0.121 0.0552 0.0777 0.22 0.02 0.13 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764725 NA NA NA NA NA 0.138 NA 3.7793 1274 7 148483760 148483760 G A intronic CUL1 NA NA NA intronic ENSG00000055130 NA NA NA NA NA 7q36.1 Score=760;Name=V$MEF2_01 NA NA NA rs2072406 0.7 0.7 0.69 0.704673 0.6074 0.6974 0.7478 0.8404 0.5982 0.61 0.68 0.69 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.106655 NA NA 0.613451 0.770954 NA 0.63 NA 3.779149 1274 1 115600137 115600137 A G intronic TSPAN2 NA NA NA intronic ENSG00000134198 NA NA NA NA NA 1p13.2 NA NA NA NA rs3738704 0.09 0.09 0.08 0.0972444 0.0755 0.0169 0.0865 0.2057 0.0634 0.06 0.02 0.09 0.2 0.0722 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.8141 1.8141 NA 0.073372 0.172492 NA 0.138 NA 3.778928 1274 8 97318660 97318660 C T intronic PTDSS1 NA NA NA intronic ENSG00000156471 NA NA NA NA NA 8q22.1 NA NA NA NA rs13439240 0.05 0.05 0.051 0.0535144 0.0795 0.001 0.0576 0.0794 0.0429 0.08 NA 0.05 0.06 0.0645 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637649 1.637649 NA 0.077326 0.103268 NA 0.065 NA 3.778674 1274 1 110281941 110281941 G A intronic GSTM3 NA NA NA ncRNA_intronic ENSG00000241720 NA NA NA NA NA 1p13.3 NA NA NA NA rs10735234 0.73 0.73 0.742 0.748403 0.5547 0.8601 0.6599 0.8835 0.7127 0.59 0.85 0.64 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062516 NA NA NA NA NA 0.725 NA 3.7786333 1274 4 156273583 156273583 G A intronic MAP9 NA NA NA ncRNA_intronic ENSG00000250910 NA NA NA NA NA 4q32.1 NA NA NA NA rs10034643 0.67 0.67 0.667 0.653754 0.5547 0.7946 0.5331 0.7844 0.5194 0.57 0.8 0.53 0.78 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515313 NA NA NA NA NA 0.623 NA 3.7786333 1274 1 109482826 109482826 C T intronic CLCC1 NA NA NA intronic ENSG00000121940,ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs338479 0.21 0.21 0.198 0.222244 0.2217 0.0218 0.1715 0.4107 0.2106 0.23 0.02 0.2 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.077726 NA NA NA NA NA 0.217 NA 3.7783 1274 6 36943573 36943573 A G intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs2293386 0.21 0.21 0.155 0.236422 0.2217 0.1062 0.2968 0.2231 0.3609 0.23 0.1 0.32 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819227 NA NA NA NA NA 0.188 NA 3.7783 1274 6 36943605 36943605 A G intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs2293387 0.21 0.21 0.167 0.236422 0.2217 0.1062 0.2968 0.2231 0.3609 0.23 0.1 0.32 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691948 NA NA NA NA NA 0.188 NA 3.7783 1274 18 12274016 12274016 C T intronic CIDEA NA NA NA intronic ENSG00000176194 NA NA NA NA NA 18p11.21 NA NA NA NA rs45523438 0.16 0.16 0.137 0.168331 0.2217 0.1131 0.1859 0.0877 0.2669 0.22 0.13 0.2 0.09 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30335 NA NA NA NA NA 0.116 NA 3.7783 1274 13 113739357 113739357 A C intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs41286606 0.12 0.12 0.13 0.115216 0.0656 0.2649 0.0865 0.0893 0.0675 0.06 0.24 0.09 0.1 0.0856 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.265725 1.265725 NA 0.070581 0.083522 NA 0.058 NA 3.778219 1274 4 57219592 57219592 G A exonic AASDH NA synonymous SNV AASDH:NM_181806:exon9:c.C1554T:p.D518D exonic ENSG00000157426 NA synonymous SNV ENSG00000157426:ENST00000434343:exon6:c.C99T:p.D33D,ENSG00000157426:ENST00000513376:exon8:c.C1254T:p.D418D,ENSG00000157426:ENST00000602986:exon8:c.C1095T:p.D365D,ENSG00000157426:ENST00000205214:exon9:c.C1554T:p.D518D,ENSG00000157426:ENST00000451613:exon9:c.C1554T:p.D518D,ENSG00000157426:ENST00000502617:exon9:c.C1554T:p.D518D NA NA 4q12 NA NA NA NA rs6554348 0.62 0.62 0.597 0.645767 0.6322 0.5268 0.7406 0.6823 0.6656 0.63 0.51 0.71 0.68 0.638 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.431268 NA NA 0.618605 0.647753 NA 0.623 NA 3.7778616 1274 5 96093138 96093138 C T intronic CAST NA NA NA intronic ENSG00000153113 NA NA NA NA NA 5q15 NA NA NA NA rs2290677 0.07 0.07 0.073 0.101238 0.0676 0.0238 0.0576 0.1793 0.1411 0.05 0.03 0.07 0.16 0.0812 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134197 NA NA 0.073488 0.157966 NA 0.101 NA 3.777712 1274 5 7927633 7927633 T C intergenic MTRR,LOC729506 dist=26398;dist=405963 NA NA intergenic ENSG00000251168,ENSG00000199773 dist=2122;dist=52626 NA NA Score=325;Name=lod=28 NA 5p15.31 NA NA NA NA rs2199340 0.49 0.49 0.466 0.507987 0.5557 0.503 0.4755 0.3638 0.682 0.55 0.48 0.52 0.38 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.880363 NA NA NA NA NA 0.471 NA 3.7776334 1274 2 165951896 165951896 A G intronic SCN3A NA NA NA intronic ENSG00000153253 NA NA NA NA NA 2q24.3 NA NA NA NA rs77002577 0.22 0.22 0.195 0.212859 0.2227 0.2659 0.1902 0.121 0.2883 0.22 0.28 0.23 0.13 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363926 NA NA NA NA NA 0.152 NA 3.7773 1274 5 180047793 180047793 G C intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs34419336 0.14 0.14 0.148 0.135383 0.2227 0.0734 0.1599 0.0961 0.1452 0.21 0.06 0.2 0.09 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625088 NA NA NA NA NA 0.217 NA 3.7773 1274 9 138675801 138675801 A C intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA NA NA rs10776848 0.19 0.19 0.198 0.199081 0.2227 0.2351 0.1556 0.1589 0.2229 0.22 0.2 0.17 0.16 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169485 NA NA NA NA NA 0.203 NA 3.7773 1274 12 25956208 25956208 T C intergenic IFLTD1,MIR4302 dist=154712;dist=70745 NA NA ncRNA_exonic ENSG00000255725 NA NA NA NA NA 12p12.1 NA NA NA NA rs11048253 NA NA 0.14 0.162939 0.2227 0.0268 0.1859 0.2088 0.1636 NA NA NA NA NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954155 NA NA NA NA NA 0.196 NA 3.7773 1274 20 62550717 62550717 C T intronic DNAJC5 NA NA NA intronic ENSG00000101152 NA NA NA NA NA 20q13.33 NA NA NA NA rs2427555 0.47 0.47 0.467 0.457268 0.2227 0.8016 0.4366 0.5182 0.2761 0.22 0.8 0.41 0.51 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611732 NA NA NA NA NA 0.333 NA 3.7773 1274 19 374453 374453 T C intronic THEG NA NA NA exonic ENSG00000105549 NA unknown UNKNOWN NA NA 19p13.3 NA NA NA NA rs3815960 0.36 0.36 0.371 0.399561 0.2316 0.5496 0.196 0.5295 0.3865 0.21 0.54 0.21 0.51 0.2737 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48679 NA NA 0.217543 0.472991 NA 0.275 NA 3.777157 1274 5 96103110 96103110 A G intronic CAST,ERAP1 NA NA NA intronic ENSG00000153113,ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs3214019 0.07 0.07 0.073 0.101038 0.0676 0.0238 0.0576 0.1785 0.1411 0.05 0.03 0.07 0.15 0.0816 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78083 NA NA 0.073837 0.157966 NA 0.101 NA 3.776963 1274 20 31590530 31590530 T G intronic SUN5 NA NA NA intronic ENSG00000167098 NA NA NA NA NA 20q11.21 NA NA NA NA rs41305793 0.15 0.15 0.132 NA NA NA NA NA NA 0.24 0.01 0.19 0.17 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298564 NA NA 0.22313 0.192197 NA 0.072 NA 3.77687 1274 11 78372536 78372536 G A exonic TENM4 NA synonymous SNV TENM4:NM_001098816:exon33:c.C7509T:p.L2503L exonic ENSG00000149256 NA synonymous SNV ENSG00000149256:ENST00000278550:exon33:c.C7509T:p.L2503L NA NA 11q14.1 NA NA NA NA rs2277277 0.42 0.42 0.406 0.38119 0.672 0.1895 0.428 0.2685 0.3988 0.67 0.19 0.47 0.26 0.5518 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65326 NA NA 0.666027 0.309299 NA 0.442 NA 3.7768396 1274 4 42895715 42895715 A G intronic GRXCR1 NA NA NA intronic ENSG00000215203 NA NA NA NA NA 4p13 NA NA NA NA rs41493449 0.13 0.13 0.134 0.123203 0.0716 0.1567 0.0648 0.2307 0.0378 0.07 0.14 0.06 0.24 0.0878 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774689 NA NA 0.063873 0.175529 NA 0.116 NA 3.776727 1274 1 237993724 237993724 C T intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs2275692 0.11 0.11 0.1 0.0842652 0.2237 0.0546 0.0951 0.0136 0.0593 0.21 0.05 0.1 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458672 NA NA NA NA NA 0.145 NA 3.7763 1274 1 240497598 240497598 T C intronic FMN2 NA NA NA intronic ENSG00000155816 NA NA NA NA NA 1q43 NA NA NA NA rs12122068 0.23 0.23 0.203 0.205272 0.2237 0.251 0.3761 0.0673 0.2045 0.22 0.28 0.36 0.08 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.595556 2.595556 NA NA NA NA 0.246 NA 3.7763 1274 2 27438710 27438710 G A intronic ATRAID NA NA NA intronic ENSG00000138085 NA NA NA NA NA 2p23.3 NA NA NA NA rs11126918 0.23 0.23 0.216 0.265775 0.2237 0.1508 0.3703 0.2708 0.3466 0.22 0.11 0.31 0.3 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815067 NA NA NA NA NA 0.261 NA 3.7763 1274 2 73761881 73761881 G A intronic ALMS1 NA NA NA intronic ENSG00000116127 NA NA NA NA NA 2p13.1 NA NA NA NA rs3738848 0.33 0.33 0.336 0.353435 0.2237 0.0089 0.3876 0.8442 0.1544 0.23 0.01 0.34 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577623 NA NA NA NA NA 0.406 NA 3.7763 1274 3 46713764 46713764 G A intronic ALS2CL NA NA NA intronic ENSG00000178038 NA NA NA NA NA 3p21.31 NA NA NA NA rs61277784 0.25 0.25 0.231 0.238219 0.2237 0.3165 0.2968 0.1513 0.2485 0.21 0.31 0.32 0.21 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664962 NA NA NA NA NA 0.297 NA 3.7763 1274 3 64580169 64580169 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs13320542 0.52 0.52 0.497 0.566294 0.2237 0.8105 0.5461 0.68 0.5276 0.22 0.79 0.49 0.69 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715742 NA NA NA NA NA 0.536 NA 3.7763 1274 6 101337765 101337765 C A intergenic ASCC3,GRIK2 dist=8541;dist=509096 NA NA ncRNA_exonic ENSG00000270987 NA NA NA NA NA 6q16.3 NA NA NA NA rs601360 0.12 0.12 0.104 0.0914537 0.2237 0.001 0.1182 0.0522 0.0828 0.22 0.0017 0.14 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743145 NA NA NA NA NA 0.116 NA 3.7763 1274 7 128137993 128137993 T G intronic METTL2B NA NA NA intronic ENSG00000165055 NA NA NA NA NA 7q32.1 NA NA NA NA rs10245559 0.18 0.18 0.16 0.158946 0.2237 0.0496 0.1902 0.1929 0.137 0.22 0.05 0.23 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263461 NA NA NA NA ID=COSN168189;OCCURENCE=1(large_intestine) 0.196 NA 3.7763 1274 9 138675790 138675790 C G intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA NA NA rs10776847 0.16 0.16 0.144 0.152756 0.2237 0.2242 0.134 0.0151 0.2055 0.22 0.2 0.15 0.03 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445804 NA NA NA NA NA 0.174 NA 3.7763 1274 11 6245555 6245555 C T intronic FAM160A2 NA NA NA intronic ENSG00000051009 NA NA NA NA NA 11p15.4 NA NA NA NA rs325608 0.31 0.31 0.333 0.36222 0.2237 0.1786 0.2334 0.674 0.364 0.23 0.19 0.19 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.499501 NA NA NA NA ID=COSN163875;OCCURENCE=1(breast) 0.297 NA 3.7763 1274 13 37446711 37446711 G T intronic SMAD9 NA NA NA intronic ENSG00000120693 NA NA NA NA NA 13q13.3 NA NA NA NA rs9576126 0.25 0.25 0.262 0.236422 0.2237 0.3353 0.219 0.1694 0.2505 0.21 0.35 0.25 0.2 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631892 NA NA NA NA ID=COSN164468;OCCURENCE=1(breast) 0.297 NA 3.7763 1274 15 93567527 93567527 C T intronic CHD2 NA NA NA intronic ENSG00000173575 NA NA NA NA NA 15q26.1 NA NA NA NA rs12905032 0.1 0.1 0.1 0.0872604 0.2237 0.0337 0.1484 0.0136 0.0583 0.2 0.02 0.15 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112583 NA NA NA NA NA NA NA 3.7763 1274 15 93567528 93567528 C T intronic CHD2 NA NA NA intronic ENSG00000173575 NA NA NA NA NA 15q26.1 NA NA NA NA rs12905033 0.11 0.11 0.102 0.0872604 0.2237 0.0337 0.1484 0.0136 0.0583 0.21 0.02 0.15 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083577 NA NA NA NA NA NA NA 3.7763 1274 17 74007574 74007574 A G intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2290252 0.17 0.17 0.165 0.174521 0.2237 0.0546 0.1499 0.2179 0.2065 0.2 0.07 0.17 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040965 NA NA NA NA NA 0.312 NA 3.7763 1274 19 35978458 35978458 G A intronic KRTDAP NA NA NA intronic ENSG00000188508 NA NA NA NA NA 19q13.12 NA NA NA NA rs17638216 0.12 0.12 0.098 0.119209 0.2237 0.0109 0.1124 0.115 0.1339 0.21 0.01 0.12 0.13 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205466 NA NA NA NA NA 0.13 NA 3.7763 1274 15 54529770 54529770 C T intronic UNC13C NA NA NA intronic ENSG00000137766 NA NA NA NA NA 15q21.3 NA NA NA NA rs16974342 0.06 0.06 0.059 0.0573083 0.0616 0.0635 0.0432 0.0734 0.0348 0.06 0.05 0.04 0.08 0.1095 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679408 NA NA 0.052734 0.062735 NA 0.065 NA 3.776166 1274 2 233199246 233199246 G A intronic DIS3L2 NA NA NA intronic ENSG00000144535 NA NA NA NA NA 2q37.1 NA NA NA NA rs1814893 0.12 0.12 0.103 0.123602 0.0696 0.0288 0.1254 0.2935 0.046 0.07 0.02 0.11 0.3 0.0916 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298098 NA NA 0.062695 0.256897 NA 0.022 NA 3.776105 1274 10 69684961 69684961 C G intronic HERC4 NA NA NA intronic ENSG00000148634 NA NA NA NA NA 10q21.3 NA NA NA NA rs111617068 0.04 0.04 0.038 0.0255591 0.0885 0.001 0.036 0.003 0.0092 0.09 0.0017 0.05 0.0041 0.0601 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.632055 2.632055 NA 0.075535 0.015441 NA 0.014 NA 3.775865 1274 8 63659610 63659610 G A exonic NKAIN3 NA synonymous SNV NKAIN3:NM_173688:exon4:c.G393A:p.T131T exonic ENSG00000185942 NA synonymous SNV ENSG00000185942:ENST00000328472:exon4:c.G393A:p.T131T,ENSG00000185942:ENST00000523211:exon4:c.G393A:p.T131T NA NA 8q12.3 NA NA NA NA rs1319275 0.44 0.44 0.433 0.429912 0.6441 0.3095 0.5836 0.1914 0.547 0.64 0.28 0.59 0.22 0.5742 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197462 NA NA 0.672622 0.281175 NA 0.486 NA 3.7757446 1274 1 168025538 168025538 T C intronic DCAF6 NA NA NA ncRNA_exonic ENSG00000224837 NA NA NA NA NA 1q24.2 NA NA NA NA rs3977723 0.56 0.56 0.53 0.61881 0.5577 0.5268 0.6527 0.7821 0.5317 0.51 0.46 0.6 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.070237 NA NA NA NA NA 0.348 NA 3.7756333 1274 15 42703406 42703406 T C intronic CAPN3 NA NA NA ncRNA_intronic ENSG00000258461 NA NA NA NA NA 15q15.1 NA NA NA NA rs3115884 0.4 0.4 0.391 0.332468 0.5577 0.2619 0.3501 0.2186 0.3149 0.56 0.29 0.4 0.27 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582183 NA NA NA NA NA 0.297 NA 3.7756333 1274 20 17389877 17389877 C T intronic PCSK2 NA NA NA intronic ENSG00000125851 NA NA NA NA NA 20p12.1 NA NA NA NA rs2859875 0.09 0.09 0.095 0.100839 0.0686 NA 0.0865 0.2663 0.0245 0.05 NA 0.07 0.25 0.0777 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.246704 NA NA 0.078372 0.240354 NA 0.196 NA 3.775328 1274 1 12942858 12942858 C T intronic PRAMEF4 NA NA NA intronic ENSG00000243073 NA NA NA NA NA 1p36.21 NA NA NA NA rs4379684 0.23 0.23 0.13 0.252596 0.2247 0.1587 0.2089 0.4039 0.2045 0.21 0.17 0.23 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412174 NA NA NA NA NA NA NA 3.7753 1274 2 20131987 20131987 T C intronic WDR35 NA NA NA intronic ENSG00000118965 NA NA NA NA NA 2p24.1 NA NA NA NA rs4294960 0.25 0.25 0.269 0.229433 0.2247 0.2292 0.2262 0.2617 0.1933 0.23 0.27 0.22 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886582 NA NA NA NA NA 0.145 NA 3.7753 1274 2 73649928 73649928 G A intronic ALMS1 NA NA NA intronic ENSG00000116127 NA NA NA NA NA 2p13.1 NA NA NA NA rs1881245 0.32 0.32 0.335 0.335463 0.2247 0.0089 0.3804 0.7852 0.1462 0.23 0.01 0.33 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147272 NA NA NA NA NA 0.348 NA 3.7753 1274 4 47708329 47708329 T C intronic CORIN NA NA NA intronic ENSG00000145244 NA NA NA NA NA 4p12 NA NA NA NA rs2001935 0.33 0.33 0.327 0.315695 0.2247 0.6032 0.2522 0.3124 0.1626 0.23 0.55 0.22 0.32 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328764 NA NA NA NA NA 0.312 NA 3.7753 1274 4 70274502 70274502 G A intergenic UGT2B28,UGT2B4 dist=113734;dist=71381 NA NA upstream ENSG00000249956 NA NA NA NA NA 4q13.2 NA NA Name=4 NA rs11249541 0.65 0.65 0.552 0.713658 0.7247 0.6052 0.7161 0.7375 0.7802 0.68 0.55 0.64 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375218 NA NA NA NA NA 0.558 NA 3.7753 1274 16 849166 849166 C A intronic GNG13 NA NA NA intronic ENSG00000127588 NA NA NA NA NA 16p13.3 NA NA NA NA rs2272900 0.29 0.29 0.279 0.323682 0.2247 0.2937 0.2291 0.4365 0.3712 0.22 0.28 0.25 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417176 NA NA NA NA NA 0.268 NA 3.7753 1274 17 63173756 63173756 A G intronic RGS9 NA NA NA intronic ENSG00000108370 NA NA NA NA NA 17q24.1 NA NA NA NA rs9896245 0.41 0.41 0.407 0.472045 0.2247 0.3323 0.4654 0.8434 0.3732 0.22 0.34 0.42 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70938 NA NA NA NA NA 0.529 NA 3.7753 1274 19 52381552 52381552 A G intronic ZNF577 NA NA NA intronic ENSG00000161551 NA NA NA NA NA 19q13.41 NA NA NA NA rs12151288 0.32 0.32 0.312 0.384984 0.2247 0.3016 0.2795 0.5356 0.5072 0.22 0.31 0.3 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614158 NA NA NA NA NA 0.355 NA 3.7753 1274 8 22424244 22424244 T C intronic SORBS3 NA NA NA ncRNA_intronic ENSG00000254230 NA NA NA NA NA 8p21.3 NA NA NA NA rs2272716 0.12 0.12 0.096 0.124601 0.2018 0.0327 0.1412 0.0643 0.2096 0.21 0.03 0.13 0.06 0.1742 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.347173 2.347173 NA 0.182209 0.084203 NA 0.109 NA 3.7751243 1275 10 116014827 116014827 G T intronic VWA2 NA NA NA intronic ENSG00000165816 NA NA NA NA NA 10q25.3 NA NA NA NA rs12262953 0.08 0.08 0.079 0.0838658 0.0795 0.0575 0.0893 0.1483 0.0245 0.08 0.06 0.1 0.1 0.0736 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973866 NA NA 0.072093 0.134135 NA 0.065 NA 3.774807 1275 5 64881936 64881936 A G exonic PPWD1 NA synonymous SNV PPWD1:NM_015342:exon10:c.A1725G:p.P575P exonic ENSG00000113593 NA synonymous SNV ENSG00000113593:ENST00000538977:exon9:c.A1257G:p.P419P,ENSG00000113593:ENST00000261308:exon10:c.A1725G:p.P575P,ENSG00000113593:ENST00000535264:exon11:c.A1635G:p.P545P NA NA 5q12.3 NA NA NA NA rs27141 0.56 0.56 0.543 0.578474 0.6203 0.4137 0.5115 0.6309 0.682 0.64 0.41 0.52 0.63 0.6223 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15834 NA NA 0.649302 0.622106 NA 0.739 NA 3.7747646 1275 7 2740015 2740015 T G UTR5 AMZ1 NM_133463:c.-71T>G NA NA UTR5 ENSG00000174945 ENST00000312371:c.-71T>G,ENST00000407112:c.-71T>G NA NA NA NA 7p22.3 NA NA NA NA rs798473 0.62 0.62 0.613 0.622404 0.5586 0.752 0.4798 0.7171 0.5276 0.56 0.72 0.49 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.871609 NA NA NA NA NA 0.543 NA 3.7747334 1275 17 40817448 40817448 G A intronic TUBG2 NA NA NA intronic ENSG00000037042 NA NA NA NA NA 17q21.2 NA Name=CTCF NA NA rs3817331 0.45 0.45 0.427 0.423722 0.4225 0.5337 0.4769 0.4024 0.3027 0.42 0.54 0.51 0.33 0.4027 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898795 NA NA 0.400349 0.408761 NA 0.283 NA 3.774451 1275 2 48738388 48738388 C T intronic PPP1R21 NA NA NA intronic ENSG00000162869 NA NA NA NA NA 2p16.3 NA NA NA NA rs62135170 0.12 0.12 0.09 0.110823 0.2256 0.004 0.2378 0.0189 0.137 0.22 NA 0.26 0.02 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197959 NA NA NA NA NA 0.116 NA 3.7744 1275 5 639089 639089 G A intronic CEP72 NA NA NA intronic ENSG00000112877 NA NA NA NA NA 5p15.33 NA NA NA NA rs1709552 0.23 0.23 0.184 0.202276 0.2256 0.4683 0.232 0.0159 0.135 0.22 0.43 0.22 0.03 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362136 NA NA NA NA NA 0.21 NA 3.7744 1275 12 103988117 103988117 C A intronic STAB2 NA NA NA intronic ENSG00000136011 NA NA NA NA NA 12q23.3 NA NA NA NA rs703596 0.12 0.12 0.107 0.096246 0.2256 0.005 0.1873 0.0091 0.1104 0.25 0.0035 0.2 0.02 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.315738 3.315738 NA NA NA NA 0.08 NA 3.7744 1275 12 130892163 130892163 G A intronic RIMBP2 NA NA NA intronic ENSG00000060709 NA NA NA NA NA 12q24.33 NA NA NA NA rs7310840 0.14 0.14 0.151 0.122204 0.2256 0.128 0.1427 0.0575 0.0828 0.22 0.09 0.14 0.09 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741608 NA NA NA NA NA 0.159 NA 3.7744 1275 14 89148486 89148486 C T intronic EML5 NA NA NA intronic ENSG00000165521 NA NA NA NA NA 14q31.3 NA NA NA NA rs17260380 0.28 0.28 0.26 0.257188 0.2256 0.3909 0.2305 0.1884 0.2638 0.23 0.4 0.24 0.24 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156801 NA NA NA NA NA 0.304 NA 3.7744 1275 16 77389762 77389762 C T intronic ADAMTS18 NA NA NA intronic ENSG00000140873 NA NA NA NA NA 16q23.1 NA NA NA NA rs8058333 0.41 0.41 0.387 0.410543 0.2256 0.5625 0.5159 0.4902 0.2618 0.21 0.58 0.47 0.47 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530412 NA NA NA NA NA 0.326 NA 3.7744 1275 4 83626429 83626429 T C intronic SCD5 NA NA NA intronic ENSG00000145284 NA NA NA NA NA 4q21.22 NA NA NA NA rs3821972 0.05 0.05 0.044 0.0603035 0.0845 0.003 0.0519 0.0484 0.1166 0.08 0.0017 0.06 0.05 0.0658 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.170778 2.170778 NA 0.075465 0.056287 NA 0.109 NA 3.774235 1275 11 107968520 107968520 T A intronic CUL5 NA NA NA intronic ENSG00000166266 NA NA NA NA NA 11q22.3 NA NA NA NA rs73000527 0.05 0.05 0.048 0.0441294 0.0885 0.0109 0.0548 0.0136 0.0665 0.1 0.01 0.06 0.02 0.0628 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.681607 2.681607 NA 0.07457 0.018174 NA 0.051 NA 3.77413 1275 6 70951103 70951103 A G intronic COL9A1 NA NA NA ncRNA_intronic ENSG00000253809 NA NA NA NA NA 6q13 NA NA NA NA rs13202029 0.1 0.1 0.109 0.0750799 0.1998 0.002 0.0994 0.0401 0.0521 0.21 0.0017 0.11 0.05 0.1513 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788273 NA NA 0.208372 0.065592 NA 0.181 NA 3.7738613 1275 1 150255587 150255587 T C UTR5 C1orf51 NM_144697:c.-91T>C NA NA UTR5 ENSG00000159208 ENST00000290363:c.-91T>C NA NA NA NA 1q21.2 NA NA NA NA rs2147324 0.71 0.71 0.71 0.730631 0.5596 0.7788 0.7262 0.8858 0.6503 0.56 0.78 0.69 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884164 NA NA NA NA NA 0.688 NA 3.7737334 1275 2 29136685 29136685 C T intronic WDR43 NA NA NA intronic ENSG00000163811 NA NA NA NA NA 2p23.2 NA NA NA NA rs12472068 0.4 0.4 0.36 0.377796 0.2266 0.7907 0.4524 0.1974 0.2986 0.23 0.78 0.41 0.2 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646943 NA NA NA NA NA 0.355 NA 3.7734 1275 4 69100396 69100396 G A intronic TMPRSS11B NA NA NA intronic ENSG00000185873 NA NA NA NA NA 4q13.2 NA NA NA NA rs13151732 0.18 0.18 0.152 0.172923 0.2266 0.0099 0.3429 0.2292 0.089 0.23 0.01 0.28 0.23 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21438 NA NA NA NA NA 0.217 NA 3.7734 1275 7 44561901 44561901 A C intronic NPC1L1 NA NA NA intronic ENSG00000015520 NA NA NA NA NA 7p13 NA NA NA NA rs217420 0.16 0.16 0.152 0.154553 0.2266 0.005 0.1383 0.2489 0.1186 0.21 0.01 0.18 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721741 NA NA NA NA NA 0.167 NA 3.7734 1275 7 97860182 97860182 G A intronic TECPR1 NA NA NA intronic ENSG00000205356 NA NA NA NA NA 7q21.3 NA NA NA NA rs2270601 0.27 0.27 0.271 0.296725 0.2266 0.4276 0.1931 0.1914 0.4499 0.22 0.45 0.2 0.21 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293462 NA NA NA NA NA 0.312 NA 3.7734 1275 10 5689927 5689927 T C intronic ASB13 NA NA NA intronic ENSG00000196372 NA NA NA NA NA 10p15.1 NA NA NA NA rs12264905 0.13 0.13 0.127 0.120607 0.2266 0.0079 0.1427 0.1074 0.1299 0.22 0.0017 0.16 0.12 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453391 NA NA NA NA NA 0.181 NA 3.7734 1275 10 91465266 91465266 G A intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA NA NA NA rs72818759 0.13 0.13 0.129 0.122804 0.2266 0.001 0.183 0.0711 0.1687 0.23 0.0017 0.19 0.09 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475136 NA NA NA NA NA 0.174 NA 3.7734 1275 11 3740574 3740574 C T intronic NUP98 NA NA NA intronic ENSG00000110713 NA NA NA NA NA 11p15.4 NA NA NA NA rs11029446 0.15 0.15 0.133 0.127796 0.2266 0.1101 0.1268 0.053 0.1462 0.23 0.1 0.17 0.07 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895425 NA NA NA NA NA 0.225 NA 3.7734 1275 12 122623595 122623595 A G intronic MLXIP NA NA NA intronic ENSG00000175727 NA NA NA NA NA 12q24.31 NA NA NA NA rs9668430 0.24 0.24 0.213 0.223842 0.2266 0.2728 0.1974 0.2095 0.2086 0.23 0.3 0.21 0.19 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533848 NA NA NA NA NA 0.203 NA 3.7734 1275 14 51372333 51372333 A G intronic PYGL NA NA NA intronic ENSG00000100504 NA NA NA NA NA 14q22.1 NA NA NA NA rs1959527 0.36 0.36 0.343 0.353634 0.2266 0.5516 0.438 0.2663 0.3384 0.23 0.56 0.43 0.27 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.273611 1.273611 NA NA NA NA 0.246 NA 3.7734 1275 20 37634704 37634704 T C intronic DHX35 NA NA NA intronic ENSG00000101452 NA NA NA NA NA 20q12 NA NA NA NA rs3829696 0.17 0.17 0.15 0.161941 0.2266 0.131 0.1585 0.0946 0.2209 0.23 0.12 0.17 0.12 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213425 NA NA NA NA NA 0.145 NA 3.7734 1275 10 95347381 95347381 C A UTR3 FFAR4 NM_181745:c.*15C>A,NM_001195755:c.*15C>A NA NA UTR3 ENSG00000186188 ENST00000371483:c.*15C>A,ENST00000371481:c.*15C>A NA NA NA NA 10q23.33 NA NA NA NA rs41290218 0.16 0.16 0.155 0.20028 0.1899 0.0972 0.1556 0.2005 0.3487 0.18 0.1 0.17 0.18 0.1938 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696607 NA NA 0.176477 0.19882 NA 0.254 NA 3.7731564 1275 7 65220697 65220697 G A ncRNA_intronic CCT6P1,LOC441242 NA NA NA ncRNA_intronic ENSG00000228409 NA NA NA NA NA 7q11.21 NA NA NA NA rs4718276 0.88 0.88 0.884 0.85643 0.8936 0.8552 0.7839 0.91 0.7986 0.91 0.83 0.82 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6261 NA NA NA NA NA 0.797 NA 3.7730666 1275 7 20698602 20698602 T C intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA NA NA NA rs12700227 0.13 0.13 0.126 0.123203 0.1133 0.1597 0.1484 0.1074 0.0992 0.11 0.17 0.15 0.1 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361467 NA NA 0.113765 0.107659 NA 0.138 NA 3.772935 1275 9 19032907 19032907 A G UTR5 FAM154A NM_153707:c.-1T>C NA NA UTR5 ENSG00000155875 ENST00000380534:c.-1T>C,ENST00000542071:c.-104009T>C,ENST00000380530:c.-1T>C NA NA NA NA 9p22.1 NA NA NA NA rs17810415 0.16 0.16 0.143 0.157947 0.1849 0.0308 0.1902 0.2284 0.1431 0.19 0.02 0.2 0.24 0.1842 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3308 NA NA 0.191324 0.225148 NA 0.268 NA 3.7729094 1275 1 150310827 150310827 A C intronic PRPF3 NA NA NA intronic ENSG00000117360 NA NA NA NA NA 1q21.3 NA NA NA NA rs11806171 0.05 0.05 0.037 0.0433307 0.0686 0.001 0.036 0.0749 0.0235 0.08 0.0017 0.03 0.08 0.0735 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10053 NA NA 0.085233 0.075352 NA 0.051 NA 3.772667 1275 6 112041359 112041359 T C intronic FYN NA NA NA intronic ENSG00000010810 NA NA NA NA NA 6q21 NA NA NA NA rs706895 0.42 0.42 0.443 0.509585 0.2276 0.4494 0.3098 0.885 0.4959 0.22 0.4 0.31 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429396 NA NA NA NA NA 0.543 NA 3.7724 1275 15 96984843 96984843 A G intergenic NR2F2,SPATA8 dist=101351;dist=341836 NA NA ncRNA_exonic ENSG00000250825 NA NA NA NA NA 15q26.2 NA NA NA NA rs4984437 0.42 0.42 0.415 0.458866 0.2276 0.4891 0.4582 0.7042 0.3344 0.22 0.48 0.42 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798973 NA NA NA NA NA 0.399 NA 3.7724 1275 17 31324077 31324077 C A intronic SPACA3 NA NA NA intronic ENSG00000141316 NA NA NA NA NA 17q11.2 NA NA NA NA rs28904 0.23 0.23 0.206 0.215455 0.2276 0.3929 0.1542 0.0333 0.3098 0.24 0.42 0.14 0.04 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010806 NA NA NA NA NA 0.123 NA 3.7724 1275 7 1517971 1517971 G A intronic INTS1 NA NA NA intronic ENSG00000164880 NA NA NA NA NA 7p22.3 NA NA NA NA rs4725131 0.07 0.07 0.054 0.0634984 0.0755 0.0317 0.2262 0.0159 0.0327 0.07 0.04 0.19 0.02 0.082 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025335 NA NA 0.070565 0.030367 NA 0.051 NA 3.771935 1275 4 25363471 25363471 A G intronic ZCCHC4 NA NA NA intronic ENSG00000168228 NA NA NA NA NA 4p15.2 NA NA NA NA rs36038307 0.1 0.1 0.109 0.104832 0.0706 0.1071 0.1124 0.0915 0.1503 0.08 0.13 0.1 0.11 0.09 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202989 NA NA 0.067468 0.0933 NA 0.123 NA 3.771932 1275 12 64045672 64045672 C T intronic DPY19L2 NA NA NA ncRNA_exonic ENSG00000257005 NA NA NA NA NA 12q14.2 NA NA NA NA rs4124773 0.64 0.64 0.608 0.612021 0.5616 0.6974 0.6499 0.5961 0.5706 0.57 0.76 0.64 0.63 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084643 NA NA NA NA NA 0.428 NA 3.7717333 1275 18 7011490 7011490 A G intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs61695598 0.09 0.09 0.064 0.096246 0.0626 0.1052 0.111 0.1097 0.093 0.07 0.09 0.1 0.1 0.1028 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008797 NA NA 0.062951 0.093736 NA 0.159 NA 3.771649 1275 4 47605734 47605734 A G intronic CORIN NA NA NA intronic ENSG00000145244 NA NA NA NA NA 4p12 NA NA NA NA rs17572227 0.07 0.07 0.072 0.0636981 0.0746 0.004 0.036 0.1437 0.0256 0.08 0.01 0.05 0.15 0.0725 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.834143 NA NA 0.081395 0.135227 NA 0.043 NA 3.771505 1275 2 237307967 237307967 G A intronic IQCA1 NA NA NA intronic ENSG00000132321 NA NA NA NA NA 2q37.3 NA NA NA NA rs6719078 0.14 0.14 0.132 0.128195 0.2286 0.003 0.1671 0.152 0.0941 0.22 0.0017 0.18 0.14 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342928 NA NA NA NA NA 0.116 NA 3.7714 1275 3 123049678 123049678 C T intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs4678009 0.3 0.3 0.284 0.297724 0.2286 0.5099 0.2522 0.211 0.2996 0.2 0.56 0.27 0.17 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644664 NA NA NA NA NA 0.275 NA 3.7714 1275 5 33642163 33642163 G A intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs60892887 0.17 0.17 0.174 0.1252 0.2286 0.1954 0.17 0.0076 0.0736 0.23 0.22 0.17 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459719 NA NA NA NA NA 0.159 NA 3.7714 1275 6 117249847 117249847 A G intronic RFX6 NA NA NA intronic ENSG00000185002 NA NA NA NA NA 6q22.1 NA NA NA NA rs597688 0.3 0.3 0.288 0.339856 0.2286 0.4236 0.2896 0.292 0.4683 0.23 0.41 0.27 0.29 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966989 NA NA NA NA NA 0.312 NA 3.7714 1275 7 38254140 38254140 C T intronic STARD3NL NA NA NA intronic ENSG00000010270 NA NA NA NA NA 7p14.1 NA NA NA NA rs3778893 0.2 0.2 0.22 0.198882 0.2286 0.1885 0.1614 0.205 0.1973 0.22 0.2 0.18 0.18 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015893 NA NA NA NA NA 0.181 NA 3.7714 1275 13 59103501 59103501 A G intergenic PCDH17,DIAPH3 dist=800436;dist=1136220 NA NA ncRNA_exonic ENSG00000214335 NA NA NA NA NA 13q21.1 NA NA NA NA rs9591893 0.16 0.16 0.137 0.148163 0.2286 0.1756 0.2017 0.031 0.1575 0.24 0.16 0.19 0.03 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137737 NA NA NA NA NA 0.116 NA 3.7714 1275 15 75595357 75595357 T A intergenic GOLGA6D,COMMD4 dist=7209;dist=33017 NA NA upstream ENSG00000260357 NA NA NA Score=325;Name=lod=28 NA 15q24.2 NA NA NA NA rs35917376 0.61 0.61 0.525 0.584265 0.7286 0.6726 0.7651 0.2965 0.6053 0.75 0.62 0.72 0.3 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803801 NA NA NA NA NA 0.681 NA 3.7714 1275 17 48562047 48562047 T G intronic RSAD1 NA NA NA intronic ENSG00000136444 NA NA NA NA NA 17q21.33 NA NA NA NA rs72834177 0.24 0.24 0.256 0.272364 0.2286 0.0813 0.2637 0.4962 0.2178 0.22 0.08 0.26 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143362 NA NA NA NA NA 0.37 NA 3.7714 1275 17 80993076 80993076 A G intronic B3GNTL1 NA NA NA intronic ENSG00000175711 NA NA NA NA NA 17q25.3 NA NA NA NA rs7405848 0.19 0.19 0.153 0.174521 0.2286 0.2093 0.17 0.1301 0.1462 0.23 0.22 0.18 0.12 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598028 NA NA NA NA NA 0.239 NA 3.7714 1275 18 6985468 6985468 A C intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs11660907 0.16 0.16 0.149 0.135783 0.2286 0.1915 0.1383 0.0068 0.1554 0.24 0.17 0.17 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.121033 NA NA NA NA ID=COSN165571;OCCURENCE=1(breast) 0.203 NA 3.7714 1275 18 57677853 57677853 C A intergenic PMAIP1,MC4R dist=106315;dist=360711 NA NA ncRNA_exonic ENSG00000256704,ENSG00000267462 NA NA NA NA NA 18q21.32 NA NA NA NA rs11152199 0.16 0.16 0.132 0.15615 0.2286 0.0238 0.2392 0.1142 0.2157 0.25 0.01 0.25 0.12 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137326 NA NA NA NA NA 0.087 NA 3.7714 1275 20 4167234 4167234 C T intronic SMOX NA NA NA intronic ENSG00000088826 NA NA NA NA NA 20p13 NA NA NA NA rs6139351 0.16 0.16 0.153 0.17472 0.2286 0.1042 0.1571 0.1785 0.1994 0.22 0.08 0.14 0.15 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982771 NA NA NA NA NA 0.196 NA 3.7714 1275 20 31825797 31825797 G A intronic BPIFA1 NA NA NA intronic ENSG00000198183 NA NA NA NA NA 20q11.21 NA NA NA NA rs1407019 0.23 0.23 0.202 0.235823 0.2286 0.2113 0.1484 0.3298 0.2035 0.23 0.18 0.16 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711442 NA NA NA NA NA 0.181 NA 3.7714 1275 20 31827439 31827439 A G intronic BPIFA1 NA NA NA intronic ENSG00000198183 NA NA NA NA NA 20q11.21 NA NA NA NA rs6141899 0.3 0.3 0.307 0.327077 0.2286 0.2113 0.1671 0.6657 0.2035 0.23 0.18 0.18 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315395 NA NA NA NA NA 0.297 NA 3.7714 1275 20 31828254 31828254 T C intronic BPIFA1 NA NA NA intronic ENSG00000198183 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059186 0.3 0.3 0.307 0.326877 0.2286 0.2113 0.1671 0.6649 0.2035 0.23 0.18 0.18 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784507 NA NA NA NA NA 0.29 NA 3.7714 1275 2 233243645 233243645 C A intronic ALPP NA NA NA intronic ENSG00000163283 NA NA NA NA NA 2q37.1 NA NA NA NA rs3748969 0.1 0.1 0.039 0.0846645 0.0726 0.2173 0.0519 0.025 0.0644 0.08 0.21 0.04 0.03 0.0801 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058286 NA NA 0.07593 0.038584 NA 0.145 NA 3.77137 1275 5 150564973 150564973 A C intronic CCDC69 NA NA NA intronic ENSG00000198624 NA NA NA NA NA 5q33.1 NA NA NA NA rs2288818 0.1 0.1 0.085 0.111821 0.0716 0.123 0.0375 0.1543 0.137 0.08 0.12 0.04 0.16 0.0834 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68072 NA NA 0.073837 0.120291 ID=COSM149999;OCCURENCE=1(stomach) 0.152 NA 3.771163 1275 2 238253930 238253930 A G intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA NA NA rs2256485 0.1 0.1 0.091 0.107029 0.1302 0.0536 0.1744 0.0825 0.1237 0.13 0.05 0.16 0.09 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445569 NA NA 0.09868 0.093208 NA 0.087 NA 3.77112 1275 10 73581601 73581601 C A intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs41307569 0.04 0.04 0.033 0.0443291 0.0736 0.006 0.0461 0.0272 0.0757 0.07 0.0035 0.06 0.03 0.0711 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544211 NA NA 0.084186 0.039946 NA 0.072 NA 3.771114 1275 7 23300049 23300049 A C intronic GPNMB NA NA NA intronic ENSG00000136235 NA NA NA NA NA 7p15.3 NA NA Name=7 NA rs199351 0.5 0.5 0.529 0.53135 0.3837 0.3532 0.3934 0.9599 0.3855 0.37 0.33 0.42 0.94 0.4314 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486615 NA NA 0.413837 0.856559 NA 0.5 NA 3.771063 1275 19 14580635 14580635 G A intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA NA NA NA rs74889788 0.14 0.14 0.131 0.166733 0.0736 0.006 0.1167 0.469 0.0552 0.08 NA 0.14 0.39 0.093 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090093 NA NA 0.062515 0.395973 NA 0.174 NA 3.770885 1275 8 56535514 56535514 C T intergenic XKR4,TMEM68 dist=96804;dist=115806 NA NA intergenic ENSG00000270907,ENSG00000221589 dist=80901;dist=54278 NA NA NA NA 8q12.1 NA NA Name=4 NA rs6474006 0.53 0.53 0.523 0.485224 0.5626 0.6667 0.4741 0.2912 0.4888 0.56 0.67 0.52 0.3 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.233732 NA NA NA NA NA 0.413 NA 3.7707334 1275 11 105923564 105923564 C T UTR3 KBTBD3 NM_198439:c.*13G>A,NM_152433:c.*13G>A NA NA UTR3 ENSG00000182359 ENST00000526793:c.*13G>A,ENST00000534815:c.*13G>A,ENST00000531837:c.*13G>A NA NA NA NA 11q22.3 NA NA NA NA rs3737347 0.2 0.2 0.188 0.199081 0.1918 0.3462 0.219 0.034 0.2638 0.19 0.35 0.22 0.02 0.1952 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.455217 NA NA 0.175896 0.061164 NA 0.138 NA 3.7704374 1275 2 10126123 10126123 A T intronic GRHL1 NA NA NA intronic ENSG00000134317 NA NA NA NA NA 2p25.1 NA NA NA NA rs1835424 0.26 0.26 0.19 0.234824 0.2296 0.2599 0.3905 0.208 0.1401 0.22 0.25 0.37 0.24 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108601 NA NA NA NA NA 0.152 NA 3.7704 1275 2 47256618 47256618 A G intronic TTC7A NA NA NA intronic ENSG00000068724 NA NA NA NA NA 2p21 NA NA NA NA rs7575628 0.39 0.39 0.378 0.387181 0.2296 0.6438 0.3055 0.4773 0.2209 0.24 0.62 0.3 0.45 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785777 NA NA NA NA NA 0.391 NA 3.7704 1275 5 639455 639455 C G intronic CEP72 NA NA NA intronic ENSG00000112877 NA NA NA NA NA 5p15.33 NA NA NA NA rs1709551 0.3 0.3 0.26 0.278554 0.2296 0.4782 0.2954 0.261 0.135 0.23 0.44 0.28 0.26 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874983 NA NA NA NA NA 0.297 NA 3.7704 1275 6 44145233 44145233 T C intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA NA NA rs73429791 0.24 0.24 0.171 0.210463 0.2296 0.1071 0.2046 0.2579 0.2372 0.33 0.09 0.26 0.26 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713269 NA NA NA NA NA 0.21 NA 3.7704 1275 11 102595413 102595413 C T intronic MMP8 NA NA NA intronic ENSG00000118113 NA NA NA NA NA 11q22.2 NA NA NA NA rs11225394 0.15 0.15 0.133 0.128395 0.2296 0.1121 0.2291 0.0083 0.1319 0.25 0.11 0.2 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.966139 NA NA NA NA NA 0.058 NA 3.7704 1275 17 38976978 38976978 C A intronic KRT10,TMEM99 NA NA NA intronic ENSG00000167920,ENSG00000186395 NA NA NA NA NA 17q21.2 NA NA NA NA rs6503559 0.14 0.14 0.107 0.132788 0.2296 0.0377 0.1816 0.0703 0.181 0.24 0.03 0.2 0.07 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271132 NA NA NA NA NA 0.101 NA 3.7704 1275 18 61562371 61562371 T C intronic SERPINB2 NA NA NA intronic ENSG00000197632 NA NA NA NA NA 18q21.33 NA NA NA NA rs7233370 0.31 0.31 0.272 0.326677 0.2296 0.499 0.3516 0.2837 0.2894 0.22 0.45 0.32 0.27 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527734 NA NA NA NA NA 0.254 NA 3.7704 1275 18 61562391 61562391 A C intronic SERPINB2 NA NA NA intronic ENSG00000197632 NA NA NA NA NA 18q21.33 NA NA NA NA rs7229383 0.31 0.31 0.278 0.326677 0.2296 0.499 0.3516 0.2837 0.2894 0.22 0.46 0.32 0.27 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287477 NA NA NA NA NA 0.254 NA 3.7704 1275 18 61569543 61569543 T A intronic SERPINB2 NA NA NA intronic ENSG00000197632,ENSG00000242550 NA NA NA NA NA 18q21.33 NA NA NA NA rs1863583 0.33 0.33 0.331 0.349042 0.2296 0.499 0.3559 0.3661 0.2894 0.22 0.46 0.33 0.35 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.393174 1.393174 NA NA NA NA 0.283 NA 3.7704 1275 20 54945783 54945783 A G intronic AURKA NA NA NA intronic ENSG00000087586 NA NA NA NA NA 20q13.2 NA NA NA NA rs10485805 0.35 0.35 0.326 0.347444 0.2296 0.7391 0.4207 0.0961 0.3528 0.21 0.74 0.36 0.12 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501754 NA NA NA NA NA 0.203 NA 3.7704 1275 10 90492356 90492356 A G intronic LIPK NA NA NA intronic ENSG00000204021 NA NA NA NA NA 10q23.31 NA NA NA NA rs11202833 0.09 0.09 0.095 0.0978435 0.0646 0.0288 0.0879 0.2239 0.0399 0.06 0.02 0.11 0.22 0.0868 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759858 NA NA 0.078267 0.220264 NA 0.116 NA 3.770333 1275 1 32694819 32694819 A G intronic EIF3I NA NA NA intronic ENSG00000084623 NA NA NA NA NA 1p35.1 NA NA NA NA rs72666792 0.13 0.13 0.106 0.171126 0.0567 0.2302 0.2118 0.1059 0.2873 0.06 0.22 0.12 0.12 0.1089 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.057562 4.057562 NA 0.064302 0.099183 NA 0.145 NA 3.770098 1275 1 175113578 175113578 T C exonic TNN NA synonymous SNV TNN:NM_022093:exon18:c.T3651C:p.N1217N exonic ENSG00000120332 NA synonymous SNV ENSG00000120332:ENST00000239462:exon18:c.T3651C:p.N1217N Score=464;Name=lod=103 NA 1q25.1 NA NA NA NA rs10912897 0.98 0.98 0.983 0.986022 0.9602 0.997 0.9741 0.9962 0.9959 0.97 1 0.97 0.99 0.9749 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034531 NA NA 0.961512 0.990468 NA 0.993 NA 3.7700546 1275 19 48800338 48800338 A G exonic CCDC114 NA synonymous SNV CCDC114:NM_144577:exon14:c.T1908C:p.S636S exonic ENSG00000105479 NA synonymous SNV ENSG00000105479:ENST00000315396:exon14:c.T1908C:p.S636S NA NA 19q13.33 NA NA NA NA rs7252988 0.51 0.51 0.494 0.464657 0.66 0.2619 0.4597 0.5068 0.4192 0.63 0.29 0.53 0.55 0.5703 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359047 NA NA 0.666395 0.536995 NA 0.616 NA 3.7699716 1275 10 95457992 95457992 A G intronic FRA10AC1 NA NA NA intronic ENSG00000148690 NA NA NA NA NA 10q23.33 NA NA NA NA rs11187596 0.07 0.07 0.057 0.0571086 0.1153 0.0317 0.0865 0.0106 0.0654 0.11 0.02 0.11 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098336 NA NA 0.115022 0.020954 NA 0.022 NA 3.769678 1275 11 83691501 83691501 A G intronic DLG2 NA NA NA intronic ENSG00000150672 NA NA NA NA NA 11q14.1 NA NA NA NA rs56209818 0.06 0.06 0.079 0.0864617 0.0835 0.003 0.0389 0.1354 0.1431 0.09 NA 0.05 0.12 0.0745 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.455032 1.455032 NA 0.072473 0.117757 NA 0.058 NA 3.769527 1275 19 9020185 9020185 T C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs78342591 0.08 0.08 0.054 0.0788738 0.0736 0.1022 0.1095 0.0083 0.1339 0.08 0.11 0.12 0.01 0.0824 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.058214 NA NA 0.074569 0.021592 NA 0.058 NA 3.769431 1275 5 56817699 56817699 C T intergenic ACTBL2,PLK2 dist=39063;dist=932111 NA NA ncRNA_intronic ENSG00000250961 NA NA NA NA NA 5q11.2 NA NA NA NA rs2408820 0.17 0.17 0.154 0.171326 0.2306 0.0099 0.2061 0.2587 0.1339 0.23 0.01 0.22 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994944 NA NA NA NA NA 0.21 NA 3.7694 1275 5 180046839 180046839 G A intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs7707285 0.14 0.14 0.121 0.132188 0.2306 0.0744 0.1614 0.0726 0.1503 0.22 0.06 0.2 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62858 NA NA NA NA NA 0.152 NA 3.7694 1275 13 110861651 110861651 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs61963269 NA NA NA 0.195088 0.2306 0.0526 0.304 0.2413 0.1656 NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673895 NA NA NA NA NA 0.051 NA 3.7694 1275 15 43021628 43021628 C T intronic CDAN1 NA NA NA intronic ENSG00000140326 NA NA NA NA NA 15q15.2 NA NA NA NA rs16957104 0.39 0.39 0.431 0.453474 0.2306 0.2361 0.1916 0.9539 0.4162 0.24 0.23 0.2 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089179 NA NA NA NA NA 0.428 NA 3.7694 1275 19 53015742 53015742 C G UTR3 ZNF578 NM_001099694:c.*335C>G NA NA upstream;downstream ENSG00000269349;ENSG00000258405 NA NA NA NA NA 19q13.41 NA NA NA NA rs329939 0.16 0.16 0.149 0.165535 0.2306 0.0437 0.2378 0.1558 0.1861 0.23 0.05 0.23 0.15 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81994 NA NA NA NA NA 0.203 NA 3.7694 1275 2 10050947 10050947 T C exonic TAF1B NA synonymous SNV TAF1B:NM_005680:exon10:c.T1038C:p.A346A exonic ENSG00000115750 NA synonymous SNV ENSG00000115750:ENST00000263663:exon10:c.T1038C:p.A346A,ENSG00000115750:ENST00000396242:exon10:c.T273C:p.A91A NA NA 2p25.1 NA NA NA NA rs1054561 0.48 0.48 0.454 0.43131 0.6551 0.4514 0.536 0.1301 0.5133 0.64 0.48 0.57 0.15 0.5743 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.444341 1.444341 NA 0.668023 0.210622 NA 0.536 NA 3.7692436 1275 15 60797607 60797607 T C intronic RORA NA NA NA ncRNA_intronic ENSG00000245534 NA NA NA NA NA 15q22.2 NA NA NA NA rs7171309 0.58 0.58 0.538 0.59385 0.5646 0.8204 0.6484 0.2534 0.8119 0.56 0.84 0.64 0.24 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525714 NA NA NA NA NA 0.391 NA 3.7687333 1275 17 39118249 39118249 G A intronic KRT39 NA NA NA ncRNA_intronic ENSG00000234477 NA NA NA NA NA 17q21.2 NA NA NA NA rs2063333 0.67 0.67 0.699 0.705871 0.5646 0.5863 0.6816 0.9372 0.6789 0.57 0.58 0.65 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.380472 1.380472 NA NA NA NA 0.732 NA 3.7687333 1275 11 67226097 67226097 C T intronic CABP4 NA NA NA intronic ENSG00000175544 NA NA NA NA NA 11q13.2 NA NA NA NA rs72934713 0.05 0.05 0.043 0.0325479 0.0765 NA 0.049 0.0053 0.046 0.09 NA 0.07 0.01 0.0614 0.093 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353472 NA NA 0.093481 0.019773 NA 0.036 NA 3.768619 1275 17 3620138 3620138 A G intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA Name=MafK_(ab50322) NA NA rs2293881 0.57 0.57 NA 0.610024 0.6322 0.3433 0.4236 0.7912 0.7495 0.63 0.35 0.46 0.79 0.5992 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470345 NA NA NA NA NA 0.609 NA 3.7686 1275 12 39719754 39719754 T C intronic KIF21A NA NA NA intronic ENSG00000139116 NA NA NA NA NA 12q12 NA NA NA NA rs76927060 0.11 0.11 0.117 0.110823 0.1203 0.131 0.0548 0.1082 0.1237 0.11 0.11 0.07 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463804 NA NA 0.111216 0.087428 NA 0.072 NA 3.768484 1275 3 141328918 141328918 T G intronic RASA2 NA NA NA intronic ENSG00000155903 NA NA NA NA NA 3q23 NA NA NA NA rs295324 0.12 0.12 0.093 0.105831 0.0636 0.2133 0.2291 0.003 0.09 0.06 0.24 0.19 0.01 0.1018 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391603 NA NA 0.066163 0.015207 ID=COSM149483,COSM149484;OCCURENCE=1(stomach) 0.058 NA 3.768437 1275 7 131347009 131347009 T C intergenic PODXL,PLXNA4 dist=105633;dist=461082 NA NA ncRNA_exonic ENSG00000213261 NA NA NA NA NA 7q32.3 NA NA NA NA rs3885619 0.17 0.17 0.133 0.158546 0.2316 0.121 0.2695 0.0144 0.2382 0.24 0.13 0.28 0.03 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4296 NA NA NA NA NA 0.188 NA 3.7684 1275 12 128108934 128108934 G A intergenic LOC440117,FLJ37505 dist=749698;dist=257228 NA NA ncRNA_intronic ENSG00000257035 NA NA NA NA NA 12q24.32 NA NA NA NA rs10847418 0.23 0.23 0.212 0.18151 0.2316 0.2907 0.2925 0.0129 0.1667 0.25 0.33 0.31 0.01 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.490717 1.490717 NA NA NA NA 0.159 NA 3.7684 1275 1 232629475 232629475 C T intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA NA NA NA rs3737839 0.23 0.23 0.212 0.251997 0.2316 0.1637 0.3963 0.2254 0.2975 0.22 0.16 0.37 0.22 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705702 NA NA NA NA NA 0.333 NA 3.7684 1275 2 85626479 85626479 G C intronic CAPG NA NA NA intronic ENSG00000042493 NA NA NA NA NA 2p11.2 NA NA NA NA rs34063934 0.22 0.22 0.21 0.22484 0.2316 0.119 0.1427 0.3207 0.2556 0.24 0.13 0.14 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344379 NA NA NA NA NA 0.29 NA 3.7684 1275 3 10345921 10345921 C T intronic SEC13 NA NA NA intronic ENSG00000157020 NA NA NA NA NA 3p25.3 NA NA NA NA rs40515 0.19 0.19 0.186 0.182708 0.2316 0.005 0.2176 0.2753 0.1656 0.22 NA 0.21 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212947 NA NA NA NA NA 0.348 NA 3.7684 1275 21 42861332 42861332 C T intronic TMPRSS2 NA NA NA intronic ENSG00000184012 NA NA NA NA NA 21q22.3 NA NA NA NA rs429442 0.27 0.27 0.268 0.279553 0.2316 0.2946 0.2565 0.3328 0.2577 0.23 0.29 0.24 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.019205 NA NA NA NA NA 0.29 NA 3.7684 1275 16 57741612 57741612 G C intronic CCDC135 NA NA NA exonic ENSG00000159625 NA unknown UNKNOWN NA NA 16q21 NA NA NA NA rs2122486 0.18 0.18 0.172 0.184904 0.2386 0.1548 0.1297 0.1483 0.2495 0.24 0.15 0.13 0.14 0.2642 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301655 NA NA 0.229264 0.154897 NA 0.13 NA 3.767936 1275 18 61468085 61468085 T A intronic SERPINB7 NA NA NA intronic ENSG00000166396 NA NA NA NA NA 18q21.33 NA NA NA NA rs2658459 0.19 0.19 0.182 0.211661 0.0646 0.4117 0.1354 0.2428 0.1687 0.06 0.39 0.1 0.22 0.1132 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.376567 2.376567 NA 0.054535 0.215388 NA 0.217 NA 3.767665 1275 10 43318542 43318542 G T intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA rs79899324 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165833 NA NA NA NA NA NA NA 3.7676 1275 11 77389020 77389020 T C intronic RSF1 NA NA NA intronic ENSG00000048649 NA NA NA NA NA 11q14.1 NA NA NA NA rs12286317 0.18 0.18 0.158 0.1877 0.2326 0.0942 0.1758 0.208 0.2188 0.22 0.1 0.2 0.18 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55714 NA NA NA NA NA 0.246 NA 3.7674 1275 19 6906321 6906321 T C intronic EMR1 NA NA NA intronic ENSG00000174837 NA NA NA NA NA 19p13.2 NA NA NA NA rs447684 0.32 0.32 0.282 0.31869 0.2326 0.4554 0.389 0.2572 0.2996 0.23 0.49 0.35 0.22 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034941 NA NA NA NA NA 0.283 NA 3.7674 1275 7 64864800 64864800 A G UTR3 ZNF92 NM_007139:c.*12A>G,NM_152626:c.*12A>G NA NA UTR3 ENSG00000146757 ENST00000328747:c.*12A>G,ENST00000431504:c.*12A>G,ENST00000357512:c.*12A>G,ENST00000450302:c.*12A>G NA NA NA NA 7q11.21 NA NA NA NA rs4122883 0.31 0.31 0.323 0.335264 0.161 0.3155 0.4164 0.5356 0.2065 0.15 0.31 0.35 0.54 0.2379 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406875 NA NA 0.16721 0.455849 NA 0.239 NA 3.7672234 1275 3 170204206 170204206 T A intronic SLC7A14 NA NA NA intronic ENSG00000013293,ENSG00000013297 NA NA NA NA NA 3q26.2 NA NA NA NA rs74330815 0.13 0.13 0.157 0.164137 0.0666 NA 0.0648 0.4463 0.1227 0.06 NA 0.05 0.45 0.0959 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468601 NA NA 0.070349 0.351112 NA 0.232 NA 3.767151 1275 14 94187832 94187832 C T exonic PRIMA1 NA synonymous SNV PRIMA1:NM_178013:exon5:c.G420A:p.S140S exonic ENSG00000175785 NA synonymous SNV ENSG00000175785:ENST00000393143:exon4:c.G420A:p.S140S,ENSG00000175785:ENST00000393140:exon5:c.G420A:p.S140S NA NA 14q32.12 NA NA NA NA rs1887197 0.52 0.52 0.501 0.498802 0.6332 0.3413 0.6974 0.3812 0.5409 0.65 0.34 0.68 0.43 0.6032 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387014 NA NA 0.66314 0.425329 NA 0.558 NA 3.7671266 1275 1 32682962 32682962 C A intronic TMEM234 NA NA NA intronic ENSG00000160055 NA NA NA NA NA 1p35.1 NA NA NA NA rs41311189 0.13 0.13 0.118 0.177915 0.0567 0.2302 0.2089 0.1331 0.2873 0.06 0.22 0.12 0.15 0.1113 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.244214 3.244214 NA 0.064884 0.126645 NA 0.152 NA 3.767116 1275 3 133560423 133560423 G A intronic RAB6B NA NA NA intronic ENSG00000154917 NA NA NA NA NA 3q22.1 NA NA NA NA rs41272335 0.08 0.08 0.083 0.0696885 0.0676 0.0218 0.0548 0.1551 0.0164 0.08 0.02 0.05 0.16 0.075 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796001 NA NA 0.090349 0.14503 NA 0.072 NA 3.767051 1275 10 92503476 92503476 C G intronic HTR7 NA NA NA intronic ENSG00000148680 NA NA NA NA NA 10q23.31 NA NA NA NA rs55802807 0.04 0.04 0.036 0.0299521 0.0765 NA 0.0447 0.0038 0.0378 0.08 NA 0.05 0.0041 0.0646 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.99731 NA NA 0.09186 0.018157 NA 0.036 NA 3.76704 1275 11 18631527 18631527 T C ncRNA_exonic SPTY2D1-AS1 NA NA NA ncRNA_exonic ENSG00000247595 NA NA NA NA NA 11p15.1 NA NA NA NA rs11024731 0.21 0.21 0.197 0.190495 0.33 0.1438 0.2176 0.1044 0.1922 0.32 0.13 0.24 0.12 0.2547 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84686 NA NA 0.314931 0.138245 NA 0.232 NA 3.7670356 1275 1 189222962 189222962 C T intergenic NONE,FAM5C dist=NONE;dist=843835 NA NA intergenic ENSG00000226196,ENSG00000252553 dist=120539;dist=412317 NA NA NA NA 1q31.1 NA Name=FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs6700979 0.64 0.64 0.655 0.636981 0.5666 0.5387 0.6556 0.8238 0.545 0.58 0.59 0.6 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669444 NA NA NA NA NA 0.645 NA 3.7667334 1275 7 149572842 149572842 G C intronic ATP6V0E2 NA NA NA ncRNA_intronic ENSG00000204934 NA NA NA NA NA 7q36.1 NA NA NA NA rs10240203 0.52 0.52 0.538 0.488419 0.5666 0.3234 0.5072 0.6573 0.3364 0.56 0.35 0.54 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724361 NA NA NA NA NA 0.551 NA 3.7667333 1275 19 37681098 37681098 G A intronic ZNF585B NA NA NA UTR5 ENSG00000245680 ENST00000531805:c.-139C>T NA NA NA NA 19q13.12 NA NA NA NA rs28701616 0.16 0.16 0.158 0.152756 0.1272 0.0575 0.1182 0.3026 0.0992 0.12 0.07 0.15 0.36 0.1332 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28153 NA NA 0.139651 0.259873 NA 0.159 NA 3.7666157 1275 20 13053035 13053035 A G exonic SPTLC3 NA synonymous SNV SPTLC3:NM_018327:exon3:c.A435G:p.S145S exonic ENSG00000172296 NA synonymous SNV ENSG00000172296:ENST00000378194:exon3:c.A435G:p.S145S,ENSG00000172296:ENST00000399002:exon3:c.A435G:p.S145S,ENSG00000172296:ENST00000450297:exon3:c.A354G:p.S118S NA NA 20p12.1 NA NA NA NA rs243888 0.66 0.66 0.678 0.653754 0.6491 0.6052 0.6542 0.7973 0.5143 0.64 0.55 0.67 0.81 0.6293 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.827794 NA NA 0.621823 0.753406 NA 0.761 NA 3.7664436 1275 2 128772310 128772310 C T intronic SAP130 NA NA NA intronic ENSG00000136715 NA NA NA NA NA 2q14.3 NA NA NA NA rs35312230 0.32 0.32 0.323 0.349042 0.2336 0.2887 0.2579 0.5575 0.3129 0.22 0.27 0.28 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811572 NA NA NA NA NA 0.428 NA 3.7664 1275 3 190106332 190106332 T A intronic CLDN16 NA NA NA intronic ENSG00000113946 NA NA NA NA NA 3q28 NA NA NA NA rs1491993 0.14 0.14 0.122 0.117212 0.2336 0.0208 0.1455 0.0681 0.1431 0.23 0.03 0.19 0.09 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381393 NA NA NA NA NA 0.21 NA 3.7664 1275 9 29636540 29636540 T C intergenic LINGO2,LOC401497 dist=423542;dist=752393 NA NA ncRNA_exonic ENSG00000229834 NA NA NA NA NA 9p21.1 NA NA NA NA rs11794034 0.18 0.18 0.176 0.160743 0.2336 0.12 0.1571 0.1694 0.1186 0.24 0.13 0.17 0.18 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025181 NA NA NA NA NA 0.167 NA 3.7664 1275 11 77602673 77602673 A G intronic INTS4 NA NA NA intronic ENSG00000087884,ENSG00000149262 NA NA NA NA NA 11q14.1 NA NA NA NA rs670090 0.17 0.17 0.131 0.165335 0.2336 0.0933 0.1571 0.1362 0.2147 0.23 0.1 0.19 0.13 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093084 NA NA NA NA NA 0.109 NA 3.7664 1275 17 16843171 16843171 A G intronic TNFRSF13B NA NA NA intronic ENSG00000240505 NA NA NA NA NA 17p11.2 NA NA NA NA rs11652811 0.13 0.13 0.104 0.103235 0.2336 0.001 0.1974 0.0174 0.1237 0.23 NA 0.23 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527665 NA NA NA NA NA 0.123 NA 3.7664 1275 14 88974417 88974417 T C intronic PTPN21 NA NA NA ncRNA_intronic ENSG00000258983 NA NA NA NA NA 14q31.3 NA NA NA NA rs10143744 0.36 0.36 0.384 0.374601 0.2674 0.3889 0.2579 0.5234 0.3517 0.28 0.36 0.27 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119262 NA NA 0.299558 0.478324 NA 0.457 NA 3.7663753 1275 1 248343543 248343543 C T exonic OR2M2 NA synonymous SNV OR2M2:NM_001004688:exon1:c.C256T:p.L86L exonic ENSG00000198601 NA synonymous SNV ENSG00000198601:ENST00000359682:exon1:c.C256T:p.L86L NA NA 1q44 NA NA NA NA rs9435919 0.55 0.55 0.502 0.578474 0.6382 0.4306 0.6052 0.6188 0.5961 0.62 0.4 0.59 0.6 0.6131 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611246 NA NA 0.649337 0.619156 NA 0.572 NA 3.7660296 1275 16 70514828 70514828 A C UTR3 COG4 NM_001195139:c.*85T>G,NM_015386:c.*85T>G NA NA UTR3 ENSG00000103051 ENST00000564415:c.*2235T>G,ENST00000323786:c.*85T>G,ENST00000482252:c.*1588T>G,ENST00000565715:c.*85T>G NA NA NA NA 16q22.1 NA NA NA NA rs7919 0.46 0.46 0.439 0.41853 0.5676 0.4216 0.438 0.3737 0.3088 0.56 0.4 0.46 0.38 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787218 NA NA NA NA NA 0.399 NA 3.7657334 1275 1 19441172 19441172 A G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs2274004 0.18 0.18 0.151 0.16853 0.2346 0.2361 0.2017 0.0091 0.2229 0.23 0.26 0.19 0.01 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.625725 2.625725 NA NA NA NA 0.109 NA 3.7654 1275 1 76878156 76878156 C T intronic ST6GALNAC3 NA NA NA intronic ENSG00000184005 NA NA NA NA NA 1p31.1 NA NA NA NA rs17098942 0.23 0.23 0.21 0.251997 0.2346 0.3988 0.1499 0.0658 0.4427 0.23 0.4 0.17 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341127 NA NA NA NA NA 0.319 NA 3.7654 1275 2 184024143 184024143 T C intronic NUP35 NA NA NA intronic ENSG00000163002 NA NA NA NA NA 2q32.1 NA NA NA NA rs3748883 0.27 0.27 0.229 0.257588 0.2346 0.4633 0.2723 0.0923 0.2822 0.25 0.45 0.25 0.09 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051563 NA NA NA NA ID=COSN166348;OCCURENCE=37(haematopoietic_and_lymphoid_tissue) 0.261 NA 3.7654 1275 3 111997510 111997510 T A intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs12632408 0.3 0.3 0.248 0.311102 0.2346 0.2996 0.4006 0.3116 0.3374 0.24 0.3 0.38 0.32 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062056 NA NA NA NA NA 0.275 NA 3.7654 1275 4 70212698 70212698 G A intergenic UGT2B28,UGT2B4 dist=51930;dist=133185 NA NA ncRNA_exonic ENSG00000250612 NA NA NA NA NA 4q13.2 NA NA NA NA rs116169166 0.19 0.19 0.172 0.229034 0.2346 0.2698 0.2277 0.1369 0.3067 0.19 0.26 0.19 0.1 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237994 NA NA NA NA NA 0.109 NA 3.7654 1275 12 52711375 52711375 G C intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2277384 0.34 0.34 0.348 0.341853 0.2346 0.4891 0.268 0.3949 0.2812 0.23 0.47 0.31 0.37 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456412 NA NA NA NA NA 0.203 NA 3.7654 1275 16 21147999 21147999 A G intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs730260 0.27 0.27 0.238 0.25 0.2346 0.2946 0.3646 0.1853 0.226 0.26 0.31 0.31 0.2 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098687 NA NA NA NA NA 0.326 NA 3.7654 1275 3 124746347 124746347 T C exonic HEG1 NA synonymous SNV HEG1:NM_020733:exon3:c.A615G:p.S205S exonic ENSG00000173706 NA synonymous SNV ENSG00000173706:ENST00000311127:exon3:c.A615G:p.S205S NA NA 3q21.2 NA NA NA NA rs4404487 0.73 0.73 0.726 0.76897 0.6223 0.8889 0.7248 0.7882 0.8016 0.64 0.87 0.67 0.77 0.6826 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02938 NA NA 0.596459 0.759069 NA 0.594 NA 3.7653076 1275 19 41269481 41269481 T C intronic SNRPA NA NA NA intronic ENSG00000077312 NA NA NA NA NA 19q13.2 NA NA NA NA rs2249854 0.16 0.16 0.159 0.145767 0.0726 0.2073 0.0706 0.2602 0.0562 0.07 0.23 0.09 0.26 0.0941 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007133 NA NA 0.068023 0.214253 NA 0.13 NA 3.765277 1275 1 232002392 232002392 A G ncRNA_UTR3 DISC1 NA NA NA UTR3 ENSG00000162946 ENST00000366636:c.*68A>G NA NA NA NA 1q42.2 NA NA NA NA rs3082 0.35 0.35 0.315 0.344649 0.3847 0.4226 0.3559 0.2057 0.4029 0.39 0.43 0.38 0.18 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393375 NA NA 0.350094 0.224711 NA 0.225 NA 3.765206 1275 19 33113295 33113295 G A intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs2302969 0.15 0.15 0.16 0.172724 0.0706 0.1032 0.0879 0.3533 0.1656 0.06 0.12 0.1 0.34 0.1018 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447438 NA NA 0.062442 0.308897 NA 0.246 NA 3.765158 1276 1 32158304 32158304 A G intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297675 0.15 0.15 0.109 0.213059 0.1123 0.1548 0.3602 0.1165 0.4029 0.11 0.17 0.27 0.09 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407605 NA NA 0.122879 0.132225 NA 0.167 NA 3.764821 1276 11 65427568 65427568 G A intronic RELA NA NA NA intronic ENSG00000173039 NA NA NA NA NA 11q13.1 NA NA NA NA rs732072 0.05 0.05 0.044 0.0623003 0.0795 0.0327 0.0461 0.0045 0.1646 0.08 0.03 0.06 0.01 0.0786 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468392 NA NA 0.077263 0.012267 NA 0.043 NA 3.764637 1276 3 191093384 191093384 A G intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA NA NA NA rs4677729 0.5 0.5 0.509 0.501597 0.4105 0.4702 0.4683 0.7231 0.3517 0.42 0.44 0.46 0.72 0.4344 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758013 NA NA 0.390475 0.664465 NA 0.464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041450.1;CLNDSDB=.;CLNDSDBID=. 3.764625 1276 13 95705453 95705453 T C intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA NA NA NA rs11568643 0.03 0.03 0.037 0.0315495 0.0815 0.001 0.0274 0.0098 0.044 0.08 NA 0.02 0.01 0.0632 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.306649 NA NA 0.090698 0.022469 NA 0.043 NA 3.764602 1276 8 71495847 71495847 A G intronic TRAM1 NA NA NA intronic ENSG00000067167 NA NA NA NA NA 8q13.3 NA NA NA NA rs61065292 0.05 0.05 0.045 0.0455272 0.0765 NA 0.0476 0.0673 0.0297 0.08 NA 0.04 0.05 0.0701 0.089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.507974 2.507974 NA 0.088974 0.074251 NA 0.094 NA 3.764426 1276 1 26846195 26846195 C T intergenic HMGN2,RPS6KA1 dist=43062;dist=10054 NA NA ncRNA_exonic ENSG00000224129 NA NA NA NA NA 1p36.11 NA NA NA NA rs4970514 0.43 0.43 0.438 0.46226 0.2356 0.7123 0.3487 0.4826 0.4908 0.24 0.74 0.32 0.43 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17047 NA NA NA NA NA 0.442 NA 3.7644 1276 1 45880669 45880669 C T intronic TESK2 NA NA NA intronic ENSG00000070759 NA NA NA NA NA 1p34.1 NA NA NA NA rs12097497 0.27 0.27 0.253 0.281749 0.2356 0.3492 0.3429 0.2405 0.272 0.23 0.35 0.29 0.23 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.008796 NA NA NA NA NA 0.319 NA 3.7644 1276 10 100167605 100167605 G A intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs7091709 0.41 0.41 0.383 0.465855 0.2356 0.4395 0.3876 0.6838 0.4908 0.22 0.46 0.37 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564049 NA NA NA NA NA 0.116 NA 3.7644 1276 12 6061491 6061491 A G intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs2286646 0.17 0.17 0.138 0.16254 0.2356 0.1845 0.1657 0.0537 0.2096 0.24 0.17 0.2 0.06 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132123 NA NA NA NA NA 0.094 NA 3.7644 1276 13 113893625 113893625 G A intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs7317558 0.32 0.32 0.268 0.333666 0.2356 0.5486 0.3905 0.121 0.4601 0.24 0.54 0.37 0.12 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904787 NA NA NA NA NA 0.254 NA 3.7644 1276 19 53818473 53818473 C T intergenic BIRC8,ZNF845 dist=23598;dist=18529 NA NA ncRNA_exonic ENSG00000174677 NA NA NA NA NA 19q13.42 NA NA NA NA rs7257010 0.28 0.28 0.239 0.284145 0.2356 0.3383 0.2363 0.3805 0.182 0.22 0.35 0.21 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075953 NA NA NA NA NA 0.246 NA 3.7644 1276 19 53819233 53819233 T C intergenic BIRC8,ZNF845 dist=24358;dist=17769 NA NA ncRNA_exonic ENSG00000174677 NA NA NA NA NA 19q13.42 NA NA NA NA rs11878380 NA NA 0.24 0.285743 0.2356 0.3373 0.2363 0.3873 0.182 NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543754 NA NA NA NA NA 0.261 NA 3.7644 1276 19 54743057 54743057 G A intronic LILRA6 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs73053480 0.22 0.22 0.222 0.225839 0.2356 0.0665 0.1758 0.388 0.1963 0.23 0.07 0.21 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.586961 1.586961 NA NA NA NA 0.181 NA 3.7644 1276 19 55178035 55178035 A G intronic LILRB4 NA NA NA intronic ENSG00000186818 NA NA NA NA NA 19q13.42 NA NA NA NA rs1749317 0.22 0.22 0.21 0.238019 0.2356 0.245 0.3112 0.1868 0.2505 0.24 0.21 0.29 0.15 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308339 NA NA NA NA NA 0.167 NA 3.7644 1276 3 132217957 132217957 T G intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs78526588 0.04 0.04 0.043 0.0389377 0.0746 NA 0.0576 0.003 0.0777 0.08 NA 0.06 0.01 0.0732 0.088 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326166 NA NA 0.088023 0.019292 NA 0.036 NA 3.764177 1276 19 39191383 39191383 G C intronic ACTN4 NA NA NA intronic ENSG00000130402 NA NA NA NA NA 19q13.2 NA Name=Pol2 Name=3 NA rs2112649 0.67 0.67 0.675 0.670727 0.7664 0.622 0.6138 0.5363 0.8446 0.77 0.64 0.66 0.55 0.7239 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699261 NA NA 0.745581 0.541988 NA 0.717 NA 3.764119 1276 7 143043377 143043377 C G intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA Name=CTCF_(SC-5916),Rad21,CTCF NA NA rs56680997 0.36 0.36 0.371 0.370008 0.4076 0.2768 0.2939 0.4251 0.407 0.4 0.26 0.34 0.45 0.4024 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216479 NA NA 0.42593 0.417158 NA 0.442 NA 3.76407 1276 1 92467741 92467741 A C intronic BRDT NA NA NA intronic ENSG00000137948 NA NA NA NA NA 1p22.1 NA NA NA NA rs72954738 0.05 0.05 0.031 0.0401358 0.0775 NA 0.0605 0.0469 0.0194 0.08 NA 0.09 0.03 0.0701 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580959 NA NA 0.088605 0.052882 NA 0.116 NA 3.763795 1276 7 42957446 42957446 A T intronic PSMA2 NA NA NA intronic ENSG00000106588,ENSG00000256646 NA NA NA NA NA 7p14.1 NA NA NA NA rs55912267 0.06 0.06 0.029 0.0557109 0.0825 0.001 0.0922 0.0915 0.0102 0.07 NA 0.1 0.07 0.07 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231372 NA NA 0.083839 0.069438 NA 0.007 NA 3.763661 1276 8 71499109 71499109 T C intronic TRAM1 NA NA NA intronic ENSG00000067167 NA NA NA NA NA 8q13.3 NA NA NA NA rs61412217 0.05 0.05 0.047 0.0455272 0.0765 NA 0.0476 0.0673 0.0297 0.08 NA 0.04 0.05 0.0706 0.089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523749 NA NA 0.089419 0.075125 NA 0.094 NA 3.763481 1276 1 45887288 45887288 T C intronic TESK2 NA NA NA intronic ENSG00000070759 NA NA NA NA NA 1p34.1 NA NA NA NA rs3790582 0.28 0.28 0.27 0.287939 0.2366 0.3492 0.3429 0.2632 0.272 0.23 0.35 0.29 0.25 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.486816 3.486816 NA NA NA NA 0.333 NA 3.7634 1276 1 184868251 184868251 G A intronic FAM129A NA NA NA intronic ENSG00000135842 NA NA NA NA NA 1q25.3 NA NA NA NA rs3753575 0.14 0.14 0.149 0.15595 0.2366 0.1458 0.1326 0.0068 0.3016 0.23 0.14 0.13 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.747403 1.747403 NA NA NA NA 0.188 NA 3.7634 1276 2 1677266 1677266 A C intronic PXDN NA NA NA intronic ENSG00000130508 NA NA NA NA NA 2p25.3 NA NA NA NA rs918953 0.28 0.28 0.283 0.314497 0.2366 0.3204 0.3026 0.3336 0.3712 0.25 0.32 0.28 0.3 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673063 NA NA NA NA NA 0.326 NA 3.7634 1276 2 105924017 105924017 C T intronic TGFBRAP1 NA NA NA intronic ENSG00000135966 NA NA NA NA NA 2q12.1 NA NA NA NA rs67600221 0.15 0.15 0.129 0.125 0.2366 0.0784 0.255 0.0098 0.1217 0.25 0.06 0.26 0.02 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371548 NA NA NA NA NA 0.123 NA 3.7634 1276 4 123184827 123184827 G A intronic KIAA1109 NA NA NA intronic ENSG00000138688 NA NA NA NA NA 4q27 NA NA NA NA rs45515895 0.14 0.14 0.11 0.122404 0.2366 0.124 0.1297 0.0068 0.1544 0.24 0.13 0.14 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149461 NA NA NA NA NA 0.116 NA 3.7634 1276 6 42541802 42541802 G C intronic UBR2 NA NA NA intronic ENSG00000024048 NA NA NA NA NA 6p21.1 NA NA NA NA rs16895843 0.19 0.19 0.205 0.205471 0.2366 0.0883 0.1859 0.2519 0.2454 0.23 0.08 0.14 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130077 NA NA NA NA ID=COSN167771;OCCURENCE=1(large_intestine) 0.21 NA 3.7634 1276 7 66660078 66660078 T C intronic TYW1 NA NA NA intronic ENSG00000198874 NA NA NA NA NA 7q11.21 NA NA NA NA rs2844096 0.24 0.24 0.219 0.276757 0.2366 0.0734 0.232 0.4622 0.3088 0.21 0.08 0.24 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444197 NA NA NA NA NA 0.203 NA 3.7634 1276 7 66660377 66660377 C A intronic TYW1 NA NA NA intronic ENSG00000198874 NA NA NA NA NA 7q11.21 NA NA NA NA rs35290283 0.24 0.24 0.194 0.276757 0.2366 0.0734 0.232 0.4622 0.3088 0.21 0.08 0.25 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450131 NA NA NA NA NA 0.138 NA 3.7634 1276 10 71175609 71175609 T C intronic TACR2 NA NA NA intronic ENSG00000075073 NA NA NA NA NA 10q22.1 NA NA NA NA rs10998765 0.26 0.26 0.287 0.307109 0.2366 0.0853 0.1816 0.5809 0.3272 0.24 0.09 0.19 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511291 NA NA NA NA NA 0.377 NA 3.7634 1276 19 53818502 53818502 A G intergenic BIRC8,ZNF845 dist=23627;dist=18500 NA NA ncRNA_exonic ENSG00000174677 NA NA NA NA NA 19q13.42 NA NA NA NA rs2865265 0.27 0.27 0.184 0.285942 0.2366 0.3383 0.2363 0.3865 0.182 0.21 0.34 0.2 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24433 NA NA NA NA NA 0.239 NA 3.7634 1276 20 13134470 13134470 T C intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA NA NA NA rs2073304 0.27 0.27 0.271 0.310903 0.2366 0.3919 0.2709 0.1959 0.4877 0.25 0.38 0.26 0.2 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203584 NA NA NA NA NA 0.297 NA 3.7634 1276 9 116131869 116131869 G A intronic BSPRY NA NA NA intronic ENSG00000119411 NA NA NA NA NA 9q32 NA NA NA NA rs10115141 0.07 0.07 0.075 0.0716853 0.0795 0.001 0.0735 0.1437 0.0378 0.08 0.0017 0.07 0.13 0.0789 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087493 NA NA 0.07884 0.144824 NA 0.014 NA 3.76276 1276 15 34094201 34094201 C T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA Name=21 NA rs2115747 0.35 0.35 0.314 0.362021 0.4026 0.3651 0.2695 0.2587 0.5225 0.4 0.4 0.32 0.21 0.4212 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.049773 3.049773 NA 0.413785 0.288907 NA 0.283 NA 3.762415 1276 1 111990265 111990265 T C intronic WDR77 NA NA NA intronic ENSG00000116455 NA NA NA NA NA 1p13.2 NA NA NA NA rs2298185 0.15 0.15 0.159 0.147564 0.2376 0.1359 0.1268 0.0522 0.2106 0.23 0.13 0.16 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244251 1.244251 NA NA NA NA 0.167 NA 3.7624 1276 3 111921010 111921010 A G intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs9821935 0.32 0.32 0.27 0.335663 0.2376 0.3393 0.4035 0.3699 0.3384 0.24 0.32 0.38 0.37 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091209 NA NA NA NA NA 0.304 NA 3.7624 1276 4 146770400 146770400 T A intronic ZNF827 NA NA NA intronic ENSG00000151612 NA NA NA NA NA 4q31.21 NA NA NA NA rs28497499 0.43 0.43 0.148 0.420927 0.2376 0.8085 0.4971 0.18 0.4816 0.25 0.76 0.44 0.34 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819224 NA NA NA NA NA 0.08 NA 3.7624 1276 7 83592357 83592357 G A intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA NA NA rs10248226 0.12 0.12 0.098 0.102636 0.2376 0.0228 0.1499 0.0779 0.046 0.21 0.02 0.18 0.06 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784 NA NA NA NA NA 0.116 NA 3.7624 1276 8 26868132 26868132 T C intergenic ADRA1A,STMN4 dist=145210;dist=225682 NA NA downstream ENSG00000215288 NA NA NA Score=610;Name=lod=401 NA 8p21.2 NA NA NA NA rs7822824 0.67 0.67 0.65 0.642372 0.7376 0.5645 0.7795 0.5454 0.6585 0.74 0.6 0.76 0.58 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032721 NA NA NA NA NA 0.486 NA 3.7624 1276 9 139697061 139697061 C T intronic KIAA1984 NA NA NA intronic ENSG00000213213 NA NA NA NA NA 9q34.3 NA NA NA NA rs2784100 0.13 0.13 0.117 0.132188 0.2376 0.0099 0.2406 0.0582 0.1728 0.23 0.0035 0.22 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59397 NA NA NA NA NA 0.167 NA 3.7624 1276 15 85448992 85448992 G T intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA NA NA NA rs67047009 0.3 0.3 0.268 0.361422 0.2376 0.3075 0.379 0.3782 0.5092 0.24 0.28 0.36 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381391 NA NA NA NA NA 0.391 NA 3.7624 1276 16 88245 88245 C T intergenic DDX11L10,POLR3K dist=24155;dist=8734 NA NA ncRNA_exonic ENSG00000226942 NA NA NA NA NA 16p13.3 NA NA NA NA rs73493038 0.18 0.18 0.181 0.191094 0.2376 0.0268 0.2233 0.292 0.1534 0.23 0.02 0.22 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69879 NA NA NA NA NA 0.138 NA 3.7624 1276 5 1057615 1057615 A G exonic SLC12A7 NA synonymous SNV SLC12A7:NM_006598:exon22:c.T2997C:p.S999S exonic ENSG00000113504 NA synonymous SNV ENSG00000113504:ENST00000264930:exon22:c.T2997C:p.S999S NA NA 5p15.33 NA NA NA NA rs2241606 0.52 0.52 0.496 0.493011 0.6372 0.4772 0.6282 0.2352 0.6135 0.66 0.5 0.64 0.26 0.6137 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.63435 NA NA 0.653372 0.30345 NA 0.5 NA 3.7623946 1276 19 46313825 46313825 A T intronic RSPH6A NA NA NA intronic ENSG00000104941 NA NA NA NA NA 19q13.32 NA Name=CTCF,CEBPB,GR Name=37 NA rs10407137 0.79 0.79 0.775 0.785343 0.7296 0.8204 0.7147 0.879 0.7301 0.74 0.82 0.76 0.86 0.7539 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605107 NA NA 0.754302 0.85429 NA 0.826 NA 3.762198 1276 11 71507311 71507311 T A ncRNA_intronic ALG1L9P NA NA NA ncRNA_UTR3 ENSG00000158483 NA NA NA NA NA 11q13.4 NA NA NA NA rs4522196 0.35 0.35 0.249 0.389776 0.4682 0.3294 0.3487 0.2655 0.5685 0.45 0.3 0.36 0.24 0.4363 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329489 NA NA NA NA NA 0.022 NA 3.7621666 1276 11 134217210 134217210 C T intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs10894800 0.13 0.13 0.13 0.15595 0.0646 0.3075 0.062 0.1157 0.2147 0.07 0.28 0.05 0.12 0.1038 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494274 NA NA 0.069467 0.101772 NA 0.101 NA 3.762133 1276 3 195968643 195968643 G A intronic PCYT1A NA NA NA UTR3 ENSG00000161217 ENST00000430755:c.*80C>T NA NA NA NA 3q29 NA NA NA NA rs1045075 0.43 0.43 0.392 0.395966 0.4046 0.6935 0.4452 0.1044 0.4397 0.41 0.71 0.45 0.12 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327306 NA NA NA NA NA 0.29 NA 3.7620667 1276 1 169528384 169528384 G A intronic F5 NA NA NA intronic ENSG00000198734 NA NA NA NA NA 1q24.2 NA NA NA NA rs6023 0.04 0.04 0.039 0.0323482 0.0895 0.0119 0.036 0.0038 0.0307 0.08 0.01 0.06 0.0041 0.0582 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800741 NA NA 0.090349 0.017476 NA 0.007 NA 3.761951 1276 20 257733 257733 A G exonic C20orf96 NA synonymous SNV C20orf96:NM_080571:exon8:c.T774C:p.S258S,C20orf96:NM_153269:exon8:c.T777C:p.S259S exonic ENSG00000196476 NA synonymous SNV ENSG00000196476:ENST00000382369:exon6:c.T672C:p.S224S,ENSG00000196476:ENST00000400269:exon6:c.T603C:p.S201S,ENSG00000196476:ENST00000360321:exon8:c.T777C:p.S259S NA NA 20p13 NA NA NA NA rs2277781 0.67 0.67 0.685 0.647165 0.6431 0.6935 0.5086 0.7587 0.5511 0.66 0.7 0.52 0.75 0.6197 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080483 NA NA 0.641977 0.741716 NA 0.667 NA 3.7618896 1276 1 59160885 59160885 A G intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA Score=313;Name=lod=25 NA 1p32.1 NA NA NA NA rs2064374 0.39 0.39 0.39 0.368211 0.4125 0.372 0.3357 0.3411 0.3783 0.42 0.39 0.34 0.39 0.4058 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705914 NA NA 0.420034 0.380321 NA 0.406 NA 3.761666 1276 1 1896223 1896223 C T intronic KIAA1751 NA NA NA intronic ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs13303202 0.22 0.22 0.19 0.189696 0.2386 0.2817 0.196 0.1301 0.1207 0.24 0.3 0.21 0.12 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737565 NA NA NA NA NA 0.254 NA 3.7614 1276 1 1897753 1897753 C G intronic KIAA1751 NA NA NA intronic ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs4648600 0.22 0.22 0.205 0.187899 0.2386 0.2768 0.196 0.1271 0.1207 0.24 0.3 0.21 0.11 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645601 NA NA NA NA NA 0.254 NA 3.7614 1276 9 2058133 2058133 T C intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA NA NA rs6475447 0.4 0.4 0.415 0.416134 0.2386 0.3462 0.4395 0.7352 0.2229 0.24 0.34 0.41 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.214009 NA NA NA NA NA 0.457 NA 3.7614 1276 12 53451952 53451952 C T intronic TENC1 NA NA NA intronic ENSG00000111077 NA NA NA NA NA 12q13.13 NA NA NA NA rs2280446 0.34 0.34 0.323 0.360423 0.2386 0.4385 0.379 0.4228 0.3078 0.24 0.42 0.35 0.41 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301845 NA NA NA NA NA 0.304 NA 3.7614 1276 18 57677294 57677294 A G intergenic PMAIP1,MC4R dist=105756;dist=361270 NA NA ncRNA_exonic ENSG00000256704 NA NA NA NA NA 18q21.32 NA NA NA NA rs2000746 0.18 0.18 0.152 0.192093 0.2386 0.0327 0.2536 0.1876 0.271 0.26 0.01 0.27 0.18 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055244 NA NA NA NA NA 0.13 NA 3.7614 1276 3 149700519 149700519 T C intergenic LOC646903,TSC22D2 dist=9490;dist=426269 NA NA ncRNA_exonic ENSG00000224831 NA NA NA Score=395;Name=lod=54 NA 3q25.1 NA NA NA NA rs7630407 0.37 0.37 0.311 0.354433 0.4245 0.5873 0.3559 0.0772 0.4162 0.42 0.59 0.36 0.06 0.4062 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.079079 NA NA 0.40814 0.13754 NA 0.355 NA 3.76116 1276 1 200971528 200971528 G T intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs41269929 0.16 0.16 NA 0.175919 0.1024 0.1022 0.085 0.4236 0.0573 0.1 0.1 0.09 0.38 0.1366 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.503648 NA NA NA NA NA 0.152 NA 3.761 1276 19 312179 312179 A G intronic MIER2 NA NA NA intronic ENSG00000105556 NA NA NA NA NA 19p13.3 NA NA NA NA rs57360893 0.16 0.16 0.127 0.169329 0.1272 0.0278 0.2161 0.3623 0.0644 0.13 0.04 0.2 0.32 0.0017 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773518 NA NA 0.110258 0.333863 NA 0.087 NA 3.760842 1276 4 7533234 7533234 C T intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs10007474 0.08 0.08 0.07 0.0802716 0.0716 0.0139 0.0893 0.1467 0.0613 0.07 0.01 0.11 0.15 0.0855 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686724 NA NA 0.082063 0.144466 NA 0.029 NA 3.760837 1276 10 13782110 13782110 A C intronic FRMD4A NA NA NA ncRNA_intronic ENSG00000234091 NA NA NA NA NA 10p13 NA NA NA NA rs11258567 0.53 0.53 0.504 0.519569 0.5726 0.6905 0.5865 0.2405 0.6186 0.56 0.67 0.56 0.29 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334915 NA NA NA NA NA 0.37 NA 3.7607333 1276 1 241964559 241964559 C T UTR3 WDR64 NM_144625:c.*42C>T NA NA UTR3 ENSG00000162843 ENST00000437684:c.*42C>T,ENST00000366552:c.*42C>T,ENST00000468967:c.*1570C>T,ENST00000414635:c.*42C>T,ENST00000425826:c.*42C>T NA NA NA NA 1q43 NA Name=GATA3_(SC-268) NA NA rs4658661 0.44 0.44 0.442 0.38139 0.506 0.4077 0.3934 0.1899 0.4765 0.58 0.48 0.44 0.18 0.4743 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294254 NA NA 0.592442 0.228098 NA 0.355 NA 3.7605914 1276 1 157522016 157522016 G A intronic FCRL5 NA NA NA intronic ENSG00000143297 NA NA NA NA NA 1q23.1 NA NA NA NA rs7552348 0.22 0.22 0.213 0.209665 0.2396 0.0794 0.1729 0.3328 0.1728 0.25 0.08 0.21 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445052 NA NA NA NA NA 0.246 NA 3.7604 1276 8 642357 642357 A G intronic ERICH1 NA NA NA intronic ENSG00000104714 NA NA NA NA NA 8p23.3 NA NA NA NA rs1703896 0.34 0.34 0.344 0.324281 0.2396 0.3998 0.3833 0.3646 0.2372 0.23 0.45 0.37 0.36 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96399 NA NA NA NA NA 0.29 NA 3.7604 1276 12 131602811 131602811 C T intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs7961434 0.38 0.38 0.334 0.373602 0.2396 0.7371 0.4352 0.1362 0.4141 0.24 0.75 0.37 0.15 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881188 NA NA NA NA NA 0.261 NA 3.7604 1276 19 6901715 6901715 A G intronic EMR1 NA NA NA intronic ENSG00000174837 NA NA NA NA NA 19p13.2 NA NA NA NA rs897739 0.42 0.42 0.431 0.433307 0.2396 0.4563 0.4193 0.6664 0.3037 0.24 0.5 0.38 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175494 NA NA NA NA NA 0.428 NA 3.7604 1276 19 10665695 10665695 C T intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA NA NA NA rs10413128 0.17 0.17 0.156 0.180911 0.2396 0.1111 0.1484 0.146 0.2628 0.23 0.09 0.19 0.17 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594484 NA NA NA NA NA 0.268 NA 3.7604 1276 19 45858245 45858245 C T intronic ERCC2 NA NA NA intronic ENSG00000104884 NA NA NA NA NA 19q13.32 NA NA NA NA rs3916868 0.17 0.17 0.143 0.140575 0.2396 0.1984 0.134 0.0242 0.1411 0.24 0.19 0.16 0.02 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058238 NA NA NA NA NA 0.167 NA 3.7604 1276 1 85817295 85817295 G A intronic DDAH1 NA NA NA ncRNA_intronic ENSG00000223653 NA NA NA NA NA 1p22.3 NA NA NA NA rs2076699 0.15 0.15 0.135 0.139776 0.2038 0.1558 0.2046 0.0756 0.0982 0.21 0.15 0.17 0.06 0.1695 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.650435 NA NA 0.199884 0.086927 NA 0.123 NA 3.7601493 1276 9 137801800 137801800 T C exonic FCN1 NA synonymous SNV FCN1:NM_002003:exon9:c.A825G:p.Q275Q exonic ENSG00000085265 NA synonymous SNV ENSG00000085265:ENST00000371806:exon9:c.A825G:p.Q275Q NA NA 9q34.3 NA NA NA NA rs1071583 0.64 0.64 0.674 0.683706 0.6302 0.4712 0.4784 0.9523 0.7403 0.64 0.49 0.47 0.92 0.6411 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333025 NA NA 0.635233 0.905356 NA 0.703 NA 3.7601336 1276 5 1470900 1470900 G A intronic LPCAT1 NA NA NA intronic ENSG00000153395 NA NA NA NA NA 5p15.33 NA Name=HNF4G_(SC-6558),RXRA,FOSL2,HNF4A_(H-171),HNF4A NA NA rs2277005 0.3 0.3 0.304 0.258387 0.4354 0.2589 0.3242 0.0968 0.2474 0.42 0.23 0.39 0.14 0.3636 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613044 NA NA 0.44093 0.145937 NA 0.275 NA 3.76007 1276 4 2176351 2176351 G A intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA NA NA rs12647917 0.31 0.31 0.313 0.321885 0.1243 0.373 0.2435 0.5703 0.1922 0.13 0.37 0.25 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452739 NA NA 0.115651 0.503613 NA 0.384 NA 3.760049 1276 10 97174164 97174164 A G intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA NA NA 10q24.1 NA NA NA NA rs3818539 0.18 0.18 0.157 0.197684 0.1024 0.4345 0.1182 0.1044 0.2342 0.1 0.42 0.12 0.09 0.1376 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352662 NA NA NA NA NA 0.21 NA 3.76 1276 21 43846956 43846956 T G intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839510 0.19 0.19 0.181 0.184704 0.0616 0.2708 0.1686 0.3268 0.0419 0.07 0.28 0.14 0.32 0.1043 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344942 NA NA 0.074186 0.285293 NA 0.174 NA 3.759914 1276 1 89733273 89733273 T C intronic GBP5 NA NA NA ncRNA_intronic ENSG00000237568 NA NA NA NA NA 1p22.2 NA NA NA NA rs6690597 0.45 0.45 0.472 0.458067 0.5736 0.3264 0.3804 0.4486 0.5429 0.56 0.31 0.44 0.46 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152684 NA NA NA NA NA 0.572 NA 3.7597333 1276 10 124594153 124594153 A G ncRNA_intronic FAM24B-CUZD1 NA NA NA intronic ENSG00000138161 NA NA NA NA NA 10q26.13 NA NA NA NA rs11248321 0.46 0.46 0.415 0.429912 0.5736 0.495 0.4798 0.205 0.4836 0.58 0.51 0.44 0.22 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318649 NA NA NA NA NA 0.413 NA 3.7597333 1276 15 101447588 101447588 A G intronic ALDH1A3 NA NA NA ncRNA_intronic ENSG00000259583 NA NA NA NA NA 15q26.3 NA NA NA NA rs4646684 0.64 0.64 0.659 0.673123 0.5736 0.7173 0.5159 0.7405 0.7505 0.57 0.69 0.56 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35974 NA NA NA NA NA 0.71 NA 3.7597333 1276 3 195346945 195346945 C A intergenic APOD,SDHAP2 dist=35869;dist=37965 NA NA ncRNA_exonic ENSG00000224769 NA NA NA NA NA 3q29 NA NA NA NA rs116044101 0.14 0.14 0.052 0.105631 0.1352 0.002 0.0908 0.2035 0.0603 0.15 0.08 0.17 0.2 0.1051 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326167 NA NA NA NA NA 0.022 NA 3.7597 1276 5 175995857 175995857 G C intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs76514370 0.11 0.11 0.093 0.116014 0.0795 0.1587 0.1037 0.0862 0.1585 0.08 0.16 0.1 0.11 0.096 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596708 NA NA 0.065 0.080572 NA 0.167 NA 3.7595 1276 11 33564123 33564123 T C exonic KIAA1549L NA synonymous SNV KIAA1549L:NM_012194:exon1:c.T123C:p.G41G exonic ENSG00000110427 NA synonymous SNV ENSG00000110427:ENST00000265654:exon1:c.T123C:p.G41G,ENSG00000110427:ENST00000321505:exon1:c.T123C:p.G41G,ENSG00000110427:ENST00000389726:exon1:c.T123C:p.G41G NA NA 11p13 NA NA NA NA rs2076623 0.7 0.7 0.7 0.696885 0.6153 0.6617 0.6095 0.8918 0.6155 0.63 0.66 0.63 0.9 0.6522 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425396 NA NA 0.639706 0.856484 NA 0.572 NA 3.7594606 1276 4 10480452 10480452 T C intergenic ZNF518B,CLNK dist=21420;dist=11386 NA NA ncRNA_exonic ENSG00000248419 NA NA NA NA NA 4p16.1 NA NA NA NA rs7685949 0.2 0.2 0.173 0.195088 0.2406 0.2004 0.2839 0.0961 0.2137 0.24 0.2 0.24 0.11 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407632 NA NA NA NA NA 0.21 NA 3.7594 1276 5 168100010 168100010 C G intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs3733975 0.34 0.34 0.301 0.315495 0.2406 0.3115 0.3746 0.4697 0.1462 0.24 0.35 0.35 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626902 NA NA NA NA NA 0.319 NA 3.7594 1276 8 53548705 53548705 T C intronic RB1CC1 NA NA NA intronic ENSG00000023287 NA NA NA NA NA 8q11.23 NA NA NA NA rs12677465 0.35 0.35 0.345 0.301717 0.2406 0.6558 0.3415 0.0953 0.2505 0.25 0.69 0.32 0.13 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.439001 1.439001 NA NA NA NA 0.406 NA 3.7594 1276 9 77400718 77400718 T C intronic TRPM6 NA NA NA intronic ENSG00000119121 NA NA NA NA NA 9q21.13 NA NA NA NA rs55720633 0.27 0.27 0.194 0.286741 0.2406 0.3562 0.4539 0.1649 0.3088 0.23 0.33 0.39 0.18 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02553 NA NA NA NA NA 0.268 NA 3.7594 1276 18 14234829 14234829 A C intergenic ANKRD20A5P,CYP4F35P dist=7780;dist=102593 NA NA ncRNA_intronic ENSG00000186481 NA NA NA NA NA 18p11.21 NA NA NA NA rs10853248 0.45 0.45 0.487 0.500998 0.2406 0.619 0.3732 0.7799 0.3609 0.23 0.55 0.35 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.684286 NA NA NA NA NA 0.225 NA 3.7594 1276 19 55485173 55485173 G A intronic NLRP2 NA NA NA intronic ENSG00000022556 NA NA NA NA NA 19q13.42 NA NA NA NA rs703467 0.3 0.3 0.302 0.275759 0.2406 0.3552 0.2262 0.3275 0.1953 0.23 0.41 0.22 0.35 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963095 NA NA NA NA NA 0.304 NA 3.7594 1276 10 15719709 15719709 T C intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs3765585 0.15 0.15 0.159 0.147364 0.1193 0.1875 0.0865 0.1861 0.1258 0.13 0.2 0.09 0.18 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05731 NA NA 0.121307 0.182081 NA 0.08 NA 3.759393 1276 12 133418069 133418069 C T UTR3 CHFR NM_001161347:c.*71G>A,NM_001161346:c.*71G>A,NM_001161345:c.*71G>A,NM_001161344:c.*71G>A,NM_018223:c.*71G>A NA NA UTR3 ENSG00000072609 ENST00000315585:c.*71G>A,ENST00000266880:c.*71G>A,ENST00000450056:c.*71G>A,ENST00000443047:c.*71G>A,ENST00000537522:c.*71G>A,ENST00000432561:c.*71G>A NA NA NA NA 12q24.33 NA NA NA NA rs1045979 0.18 0.18 0.163 0.149161 0.2783 0.1736 0.1585 0.0371 0.136 0.29 0.18 0.16 0.04 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843295 NA NA 0.295726 0.061416 NA 0.174 NA 3.7593074 1276 14 95085465 95085465 C G intronic SERPINA3 NA NA NA UTR5 ENSG00000196136 ENST00000482740:c.-78C>G NA NA NA NA 14q32.13 NA NA NA NA rs8004988 0.44 0.44 0.444 0.445887 0.4076 0.3373 0.3703 0.6649 0.3548 0.41 0.3 0.41 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601969 NA NA NA NA NA 0.413 NA 3.7590667 1276 1 89730723 89730723 C T intronic GBP5 NA NA NA ncRNA_intronic ENSG00000237568 NA NA NA NA NA 1p22.2 NA NA NA NA rs9628688 0.43 0.43 0.436 0.426118 0.5746 0.3234 0.3718 0.3336 0.5429 0.56 0.3 0.44 0.37 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42455 NA NA NA NA NA 0.558 NA 3.7587333 1276 19 55713385 55713385 A G intronic PTPRH NA NA NA intronic ENSG00000080031 NA NA NA NA NA 19q13.42 NA NA NA NA rs73066689 0.06 0.06 0.061 0.0776757 0.0984 0.0397 0.0533 0.0968 0.0869 0.1 0.02 0.05 0.07 0.0716 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515554 NA NA 0.071279 0.095325 NA 0.109 NA 3.758721 1276 5 141316946 141316946 C T intronic KIAA0141 NA NA NA intronic ENSG00000081791 NA NA NA NA NA 5q31.3 NA NA NA NA rs10064193 0.05 0.05 0.044 0.057508 0.0855 0.0099 0.0447 0.031 0.1227 0.08 0.01 0.06 0.04 0.0746 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000204 NA NA 0.081395 0.041534 NA 0.051 NA 3.758505 1276 9 125315393 125315393 G A upstream OR1N2 NA NA NA UTR5 ENSG00000171501 ENST00000373688:c.-56G>A NA NA NA NA 9q33.2 NA NA NA NA rs12684786 0.19 0.19 0.193 0.177915 0.2416 0.127 0.1974 0.1989 0.1227 0.24 0.1 0.22 0.2 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402165 NA NA NA NA NA 0.145 NA 3.7584 1276 11 122653689 122653689 C A intronic UBASH3B NA NA NA intronic ENSG00000154127 NA NA NA NA NA 11q24.1 NA NA NA NA rs12575062 0.27 0.27 0.249 0.283147 0.2416 0.3085 0.3199 0.3306 0.2096 0.23 0.25 0.32 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285808 NA NA NA NA NA 0.21 NA 3.7584 1276 19 33602881 33602881 C T intronic GPATCH1 NA NA NA intronic ENSG00000076650 NA NA NA NA NA 19q13.11 NA NA NA NA rs3786933 0.37 0.37 0.348 0.533546 0.2416 0.5079 0.2867 0.8003 0.6748 0.23 0.43 0.27 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853939 NA NA NA NA NA 0.399 NA 3.7584 1276 22 32841503 32841503 G A intronic BPIFC NA NA NA intronic ENSG00000184459 NA NA NA NA NA 22q12.3 NA NA NA NA rs2076032 0.25 0.25 0.185 0.251597 0.2416 0.1974 0.2695 0.2723 0.2771 0.25 0.19 0.3 0.29 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658597 NA NA NA NA NA 0.232 NA 3.7584 1276 X 35971670 35971670 A C intronic CXorf22 NA NA NA intronic ENSG00000165164 NA NA NA NA NA Xp21.1 NA NA NA NA rs6632432 0.31 0.31 0.30604 NA NA NA NA NA NA 0.09 0.33 0.3 0.63 0.1828 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17447 NA NA 0.059042 0.590921 ID=COSN168730;OCCURENCE=1(large_intestine) 0.21 NA 3.758158 1276 14 21360344 21360344 G C UTR3 RNASE3 NM_002935:c.*16G>C NA NA UTR3 ENSG00000169397 ENST00000304639:c.*16G>C NA NA NA NA 14q11.2 NA NA NA NA rs2233860 0.17 0.17 0.18 0.16893 0.1869 0.1161 0.1225 0.23 0.1554 0.19 0.13 0.14 0.22 0.1812 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164774 NA NA 0.207326 0.208942 NA 0.116 NA 3.7579074 1276 6 49705182 49705182 G A intronic CRISP3 NA NA NA intronic ENSG00000096006 NA NA NA NA NA 6p12.3 NA NA NA NA rs2275597 0.07 0.07 NA 0.0882588 0.1123 0.0496 0.0865 0.0076 0.2137 0.11 0.04 0.09 0.01 0.1302 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148712 NA NA NA NA NA 0.036 NA 3.7575 1276 2 220431458 220431458 A C intronic OBSL1 NA NA NA intronic ENSG00000124006 NA NA NA NA NA 2q35 NA NA NA NA rs62191614 0.18 0.18 0.158 0.179113 0.2425 0.1171 0.2032 0.0719 0.3057 0.24 0.13 0.23 0.09 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23774 NA NA NA NA NA 0.181 NA 3.7575 1276 4 185687687 185687687 A C intronic ACSL1 NA NA NA intronic ENSG00000151726 NA NA NA NA NA 4q35.1 NA NA NA NA rs12374289 0.24 0.24 0.238 0.229233 0.2425 0.2153 0.232 0.2511 0.1984 0.25 0.24 0.23 0.24 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024333 NA NA NA NA NA 0.181 NA 3.7575 1276 5 40972769 40972769 G A intronic C7 NA NA NA intronic ENSG00000112936 NA NA NA NA NA 5p13.1 NA NA NA NA rs34641824 0.21 0.21 0.21 0.226438 0.2425 0.3681 0.1297 0.053 0.3671 0.23 0.34 0.15 0.08 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833585 NA NA NA NA NA 0.159 NA 3.7575 1276 5 67575642 67575642 A G intronic PIK3R1 NA NA NA intronic ENSG00000145675 NA NA NA NA NA 5q13.1 NA NA NA NA rs3815701 0.21 0.21 0.181 0.22504 0.2425 0.1726 0.2536 0.2057 0.2669 0.24 0.17 0.24 0.2 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203814 NA NA NA NA NA 0.254 NA 3.7575 1276 22 50925997 50925997 C A intronic MIOX NA NA NA intronic ENSG00000100253 NA NA NA NA NA 22q13.33 NA NA NA NA rs3747273 0.23 0.23 0.23 0.202077 0.2425 0.3373 0.2305 0.0825 0.1626 0.24 0.34 0.23 0.09 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523 NA NA NA NA NA 0.196 NA 3.7575 1276 6 117725622 117725622 G A intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs2243377 0.06 0.06 0.059 0.0499201 0.0875 0.0437 0.0807 0.0045 0.0573 0.09 0.04 0.07 0.01 0.0685 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637992 1.637992 NA 0.086628 0.017249 NA 0.101 NA 3.757372 1276 6 151258110 151258110 G T intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA NA NA rs2073189 0.17 0.17 0.132 0.1873 0.0636 0.497 0.1153 0.0257 0.2648 0.07 0.47 0.09 0.03 0.1192 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500936 NA NA 0.06 0.031321 NA 0.109 NA 3.7572 1276 10 129854507 129854507 C T intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA NA NA NA rs41282862 0.04 0.04 0.038 0.0307508 0.0855 0.001 0.0504 0.003 0.0286 0.08 0.0017 0.04 0.01 0.0617 0.096 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795862 NA NA 0.095814 0.01498 NA 0.036 NA 3.756986 1276 1 32696628 32696628 A C intronic EIF3I NA NA NA intronic ENSG00000084623 NA NA NA NA NA 1p35.1 NA NA NA NA rs72666795 0.16 0.16 0.148 0.210663 0.0567 0.2302 0.2349 0.2436 0.2873 0.06 0.22 0.15 0.26 0.1214 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490828 NA NA 0.065 0.238311 ID=COSM1627019;OCCURENCE=1(liver) 0.174 NA 3.7569 1276 9 96025052 96025052 T C intronic WNK2 NA NA NA intronic ENSG00000165238 NA NA NA NA NA 9q22.31 NA NA NA NA rs7857220 0.13 0.13 0.129 0.132588 0.1362 0.001 0.1124 0.2965 0.0573 0.14 0.0017 0.13 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153085 NA NA 0.106936 0.273737 NA 0.094 NA 3.756864 1276 4 99341156 99341156 C G intronic RAP1GDS1 NA NA NA intronic ENSG00000138698 NA NA NA NA NA 4q23 NA NA NA NA rs12512920 0.14 0.14 0.133 0.153754 0.0726 0.0397 0.1945 0.3389 0.0757 0.07 0.05 0.19 0.32 0.1063 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508367 NA NA 0.064405 0.27551 NA 0.145 NA 3.756695 1276 1 9307230 9307230 T A intronic H6PD NA NA NA intronic ENSG00000049239 NA NA NA NA NA 1p36.22 NA NA NA NA rs12032814 0.28 0.28 0.255 0.250799 0.2435 0.4067 0.2695 0.2088 0.1411 0.24 0.43 0.22 0.21 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106075 NA NA NA NA NA 0.239 NA 3.7565 1276 2 209051586 209051586 A G intronic C2orf80 NA NA NA intronic ENSG00000188674 NA NA NA NA NA 2q34 NA NA NA NA rs7572263 0.2 0.2 0.219 0.239417 0.2435 0.0278 0.1801 0.3828 0.3016 0.23 0.02 0.19 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696411 NA NA NA NA NA 0.21 NA 3.7565 1276 8 113364574 113364574 T C intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs11775013 0.26 0.26 0.231 0.248602 0.2435 0.3938 0.3156 0.0613 0.3098 0.24 0.42 0.32 0.08 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638093 NA NA NA NA NA 0.261 NA 3.7565 1276 12 103260273 103260273 T G intronic PAH NA NA NA intronic ENSG00000171759 NA NA NA NA NA 12q23.2 NA NA NA NA rs10860933 0.32 0.32 0.309 0.302716 0.2435 0.7609 0.1888 0.0129 0.364 0.25 0.77 0.18 0.02 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022468 NA NA NA NA NA 0.348 NA 3.7565 1276 15 81574743 81574743 C T intronic IL16 NA NA NA intronic ENSG00000172349 NA NA NA NA NA 15q25.1 NA NA NA NA rs8025180 0.23 0.23 0.221 0.230631 0.2435 0.0427 0.1484 0.4818 0.1299 0.25 0.04 0.16 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423466 NA NA NA NA NA 0.29 NA 3.7565 1276 22 23261819 23261819 G A intergenic IGLL5,RTDR1 dist=23806;dist=139774 NA NA ncRNA_exonic ENSG00000222037 NA NA NA NA NA 22q11.22 NA NA NA NA rs374015 0.13 0.13 0.089 0.11242 0.2435 0.0546 0.1441 0.0446 0.1063 0.23 0.07 0.12 0.05 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.777723 NA NA NA NA NA 0.13 NA 3.7565 1276 3 10140671 10140671 G A UTR3 FANCD2 NM_033084:c.*37G>A NA NA UTR3 ENSG00000144554 ENST00000287647:c.*37G>A NA NA NA NA 3p25.3 NA NA NA NA rs7626117 0.31 0.31 0.338 0.345248 0.161 0.0675 0.232 0.8533 0.2147 0.17 0.1 0.25 0.84 0.2285 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.795151 NA NA 0.187369 0.736269 NA 0.442 NA 3.7564644 1276 9 139912484 139912484 A G exonic ABCA2 NA synonymous SNV ABCA2:NM_001606:exon15:c.T2037C:p.D679D,ABCA2:NM_212533:exon15:c.T2127C:p.D709D exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000488535:exon2:c.T78C:p.D26D,ENSG00000107331:ENST00000371605:exon14:c.T2034C:p.D678D,ENSG00000107331:ENST00000459850:exon14:c.T2124C:p.D708D,ENSG00000107331:ENST00000487109:exon14:c.T2124C:p.D708D,ENSG00000107331:ENST00000265662:exon15:c.T2037C:p.D679D,ENSG00000107331:ENST00000341511:exon15:c.T2037C:p.D679D Score=533;Name=lod=196 NA 9q34.3 NA NA NA NA rs908832 0.96 0.96 0.959 0.963858 0.9672 0.999 0.9841 0.9168 0.9734 0.96 1 0.98 0.91 0.9732 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355748 NA NA 0.970176 0.945166 NA 0.971 NA 3.7560906 1276 3 48612471 48612471 G A intronic COL7A1 NA NA NA intronic ENSG00000114270 NA NA NA NA NA 3p21.31 NA NA NA NA rs76140443 0.05 0.05 0.039 0.0301518 0.1014 NA 0.049 0.0068 0.0061 0.09 NA 0.08 0.01 0.0631 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506611 NA NA 0.079493 0.012278 NA 0.007 NA 3.756007 1276 17 67212031 67212031 A G exonic ABCA10 NA synonymous SNV ABCA10:NM_080282:exon9:c.T783C:p.Y261Y exonic ENSG00000154263 NA synonymous SNV ENSG00000154263:ENST00000518929:exon6:c.T783C:p.Y261Y,ENSG00000154263:ENST00000523419:exon6:c.T783C:p.Y261Y,ENSG00000154263:ENST00000522406:exon8:c.T783C:p.Y261Y,ENSG00000154263:ENST00000269081:exon9:c.T783C:p.Y261Y,ENSG00000154263:ENST00000416101:exon9:c.T783C:p.Y261Y,ENSG00000154263:ENST00000432313:exon9:c.T783C:p.Y261Y NA NA 17q24.3 NA NA NA NA rs11077414 0.47 0.47 0.457 0.471446 0.662 0.3502 0.5605 0.2526 0.6329 0.66 0.3 0.54 0.33 0.5919 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001152 NA NA 0.65686 0.416251 NA 0.435 NA 3.7559066 1276 2 113588793 113588793 C T intronic IL1B NA NA NA intronic ENSG00000125538 NA NA NA NA NA 2q13 NA NA NA NA rs1143639 0.15 0.15 0.132 0.134984 0.2445 0.0228 0.1254 0.1331 0.1472 0.26 0.03 0.14 0.11 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88942 NA NA NA NA NA 0.13 NA 3.7555 1276 3 78706519 78706519 C T intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs9818170 0.24 0.24 0.27 0.227835 0.2445 0.2222 0.2161 0.2337 0.2168 0.26 0.24 0.21 0.24 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.461665 NA NA NA NA NA 0.21 NA 3.7555 1276 6 110942653 110942653 G C intronic CDK19 NA NA NA intronic ENSG00000155111 NA NA NA NA NA 6q21 NA NA NA NA rs2272211 0.28 0.28 0.272 0.301518 0.2445 0.3879 0.3458 0.1967 0.3814 0.24 0.38 0.33 0.2 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100789 NA NA NA NA NA 0.304 NA 3.7555 1276 9 18795304 18795304 C T intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA NA NA NA rs2289005 0.26 0.26 0.238 0.273762 0.2445 0.2411 0.353 0.2799 0.273 0.24 0.22 0.36 0.27 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478794 NA NA NA NA ID=COSN168477;OCCURENCE=1(large_intestine) 0.239 NA 3.7555 1276 14 107087557 107087557 T A intergenic LINC00221,NONE dist=136028;dist=NONE NA NA ncRNA_intronic ENSG00000253742 NA NA NA NA NA 14q32.33 NA NA NA NA rs61995831 0.3 0.3 0.283 0.357827 0.2445 0.3333 0.3012 0.3238 0.5859 0.25 0.34 0.3 0.33 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052242 NA NA NA NA NA 0.217 NA 3.7555 1276 16 10934114 10934114 T C intergenic TVP23A,CIITA dist=21493;dist=36941 NA NA downstream ENSG00000262488 NA NA NA Score=535;Name=lod=199 NA 16p13.13 NA NA NA NA rs7188603 0.77 0.77 0.77 0.771366 0.7445 0.8452 0.7968 0.671 0.8405 0.75 0.85 0.79 0.7 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407269 NA NA NA NA NA 0.812 NA 3.7555 1276 17 78576347 78576347 G A intronic RPTOR NA NA NA intronic ENSG00000141564 NA NA NA NA NA 17q25.3 NA NA NA NA rs12449366 0.2 0.2 0.181 0.17492 0.2445 0.2569 0.1787 0.0461 0.1902 0.24 0.27 0.18 0.05 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887466 NA NA NA NA NA 0.217 NA 3.7555 1276 19 11113902 11113902 G A intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs2288844 0.2 0.2 0.176 0.193291 0.2445 0.2183 0.1585 0.084 0.2873 0.24 0.23 0.2 0.08 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776482 NA NA NA NA NA 0.167 NA 3.7555 1276 22 30124968 30124968 C T intronic CABP7 NA NA NA intronic ENSG00000100314 NA NA NA NA NA 22q12.2 NA NA NA NA rs9614042 0.32 0.32 0.318 0.396366 0.2445 0.3046 0.3545 0.4289 0.6329 0.25 0.28 0.38 0.42 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411713 NA NA NA NA NA 0.377 NA 3.7555 1276 17 74277039 74277039 G A intronic QRICH2 NA NA NA intronic ENSG00000129646 NA NA NA NA NA 17q25.1 NA NA NA NA rs72868908 0.08 0.08 0.07 0.10623 0.0765 0.003 0.2032 0.1664 0.093 0.07 0.0017 0.17 0.13 0.0887 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005712 NA NA 0.079302 0.145483 NA 0.072 NA 3.755498 1276 14 70713156 70713156 G A ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs11629177 0.32 0.32 0.239 0.336861 0.4742 0.1677 0.4957 0.1785 0.4714 0.46 0.17 0.47 0.19 0.4371 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000375 NA 0.14 NA NA NA 0.065 NA 3.7553666 1276 13 111147846 111147846 G A intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs912946 0.08 0.08 0.087 0.0824681 0.0924 0.001 0.0605 0.18 0.0399 0.09 NA 0.08 0.15 0.0741 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.965319 NA NA 0.078155 0.168101 NA 0.08 NA 3.755345 1276 12 103271193 103271193 G A intronic PAH NA NA NA intronic ENSG00000171759 NA NA NA NA NA 12q23.2 NA NA NA NA rs1718301 0.3 0.3 0.293 0.294329 0.4394 0.119 0.3357 0.2496 0.3569 0.45 0.12 0.35 0.25 0.3725 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600424 NA NA 0.432907 0.285066 NA 0.283 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000088921.1;CLNDSDB=.;CLNDSDBID=. 3.755193 1277 17 74276838 74276838 A G intronic QRICH2 NA NA NA intronic ENSG00000129646 NA NA NA NA NA 17q25.1 NA NA NA NA rs67948583 0.09 0.09 0.07 0.113419 0.0765 0.003 0.2075 0.1914 0.093 0.08 0.0017 0.18 0.16 0.0894 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237907 1.237907 NA 0.079186 0.164321 NA 0.138 NA 3.754914 1277 17 26695832 26695832 A G intronic VTN NA NA NA ncRNA_intronic ENSG00000258924 NA NA NA NA NA 17q11.2 NA NA NA NA rs2071379 0.75 0.75 0.748 0.763978 0.5785 0.9514 0.6744 0.8835 0.6636 0.56 0.95 0.69 0.86 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213018 NA NA NA NA NA 0.725 NA 3.7548333 1277 1 12898378 12898378 C G intergenic PRAMEF11,LOC649330 dist=7114;dist=8858 NA NA ncRNA_exonic ENSG00000231103 NA NA NA NA NA 1p36.21 NA NA NA NA rs57957396 0.21 0.21 0.183 0.1875 0.2455 0.2748 0.2565 0.0197 0.2157 0.24 0.28 0.27 0.03 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110935 NA NA NA NA NA 0.087 NA 3.7545 1277 1 26527255 26527255 G A intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA NA NA NA rs12145714 0.2 0.2 0.202 0.205671 0.2455 0.0218 0.1527 0.385 0.1493 0.26 0.02 0.18 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033962 NA NA NA NA NA 0.21 NA 3.7545 1277 1 26527260 26527260 A G intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA NA NA NA rs12120359 0.2 0.2 0.195 0.205671 0.2455 0.0218 0.1527 0.385 0.1493 0.26 0.02 0.18 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853572 NA NA NA NA NA 0.21 NA 3.7545 1277 1 45813441 45813441 T C intronic TESK2 NA NA NA intronic ENSG00000070759 NA NA NA NA NA 1p34.1 NA NA NA NA rs2298018 0.4 0.4 0.407 0.41893 0.2455 0.3859 0.5072 0.6467 0.2607 0.24 0.41 0.43 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532244 NA NA NA NA NA 0.442 NA 3.7545 1277 4 79786974 79786974 T C intronic BMP2K NA NA NA intronic ENSG00000138756 NA NA NA NA NA 4q21.21 NA NA NA NA rs2288254 0.45 0.45 0.499 0.511981 0.2455 0.3313 0.402 0.9705 0.4305 0.25 0.32 0.38 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412448 NA NA NA NA NA 0.543 NA 3.7545 1277 12 101795009 101795009 A C intronic ARL1 NA NA NA intronic ENSG00000120805 NA NA NA NA NA 12q23.2 NA NA NA NA rs17500203 0.13 0.13 0.125 0.114217 0.2455 0.005 0.1239 0.0658 0.1503 0.25 0.0017 0.13 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.836236 3.836236 NA NA NA NA 0.159 NA 3.7545 1277 14 107108302 107108302 T C intergenic LINC00221,NONE dist=156773;dist=NONE NA NA ncRNA_exonic ENSG00000253936 NA NA NA NA NA 14q32.33 NA NA NA NA rs8009795 0.35 0.35 0.32 0.389776 0.2455 0.3393 0.3012 0.4418 0.5828 0.27 0.35 0.37 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314885 NA NA NA NA NA 0.341 NA 3.7545 1277 14 107108305 107108305 G A intergenic LINC00221,NONE dist=156776;dist=NONE NA NA ncRNA_exonic ENSG00000253936 NA NA NA NA NA 14q32.33 NA NA NA NA rs8008831 0.32 0.32 0.31 0.389976 0.2455 0.3393 0.3012 0.4425 0.5828 0.23 0.34 0.31 0.45 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348481 NA NA NA NA NA 0.341 NA 3.7545 1277 17 46847524 46847524 T A intronic TTLL6 NA NA NA intronic ENSG00000170703 NA NA NA NA NA 17q21.32 NA NA NA NA rs2032843 0.24 0.24 0.195 0.227636 0.2455 0.1736 0.3862 0.2209 0.1616 0.25 0.16 0.37 0.23 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244516 NA NA NA NA NA 0.29 NA 3.7545 1277 3 4817057 4817057 T C exonic ITPR1 NA synonymous SNV ITPR1:NM_002222:exon43:c.T5922C:p.N1974N,ITPR1:NM_001099952:exon44:c.T5967C:p.N1989N,ITPR1:NM_001168272:exon46:c.T6066C:p.N2022N exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000456211:exon43:c.T5922C:p.N1974N,ENSG00000150995:ENST00000357086:exon44:c.T5967C:p.N1989N,ENSG00000150995:ENST00000423119:exon44:c.T5967C:p.N1989N,ENSG00000150995:ENST00000443694:exon44:c.T6066C:p.N2022N,ENSG00000150995:ENST00000302640:exon46:c.T6066C:p.N2022N,ENSG00000150995:ENST00000354582:exon46:c.T6066C:p.N2022N Score=443;Name=lod=84 NA 3p26.1 NA NA NA NA rs6442905 0.97 0.97 0.971 0.96266 0.9722 0.9782 0.9741 0.9493 0.9468 0.97 0.99 0.97 0.95 0.9701 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740197 NA NA 0.970286 0.954225 NA 0.986 NA 3.7540806 1277 12 56120096 56120096 C T intronic CD63 NA NA NA intronic ENSG00000135404 NA NA NA NA NA 12q13.2 NA NA NA NA rs35746357 0.04 0.04 0.034 0.038738 0.0895 NA 0.0548 0.0045 0.0613 0.08 NA 0.05 0.01 0.0675 0.089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071805 NA NA 0.089186 0.020427 NA 0.036 NA 3.753814 1277 2 32620722 32620722 A T intronic BIRC6 NA NA NA intronic ENSG00000115760 NA NA NA NA NA 2p22.3 NA NA NA NA rs3731581 0.09 0.09 0.084 0.0836661 0.1521 0.0456 0.0937 0.0537 0.0859 0.15 0.05 0.11 0.05 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088298 NA NA 0.09428 0.049133 NA 0.13 NA 3.75362 1277 5 132939412 132939412 C T intronic FSTL4 NA NA NA intronic ENSG00000053108 NA NA NA NA NA 5q31.1 NA NA NA NA rs72789144 0.19 0.19 0.169 0.168131 0.2465 0.253 0.1383 0.0204 0.2209 0.26 0.28 0.15 0.02 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687696 1.687696 NA NA NA NA 0.101 NA 3.7535 1277 6 42617961 42617961 T G intronic UBR2 NA NA NA intronic ENSG00000024048 NA NA NA NA NA 6p21.1 NA NA NA NA rs3763234 0.28 0.28 0.251 0.257788 0.2465 0.4613 0.317 0.1324 0.1871 0.24 0.45 0.32 0.13 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685189 NA NA NA NA NA 0.275 NA 3.7535 1277 11 57456244 57456244 C T intronic ZDHHC5 NA NA NA intronic ENSG00000156599 NA NA NA NA NA 11q12.1 NA NA NA NA rs549022 0.42 0.42 0.396 0.407348 0.2465 0.7966 0.4726 0.2405 0.3507 0.25 0.78 0.44 0.25 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.201092 NA NA NA NA NA 0.406 NA 3.7535 1277 12 6857898 6857898 C A intronic MLF2 NA NA NA intronic ENSG00000089693 NA NA NA NA NA 12p13.31 NA NA NA NA rs35247189 0.18 0.18 0.148 0.145367 0.2465 0.1597 0.2003 0.0666 0.0941 0.25 0.17 0.19 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59787 NA NA NA NA NA 0.254 NA 3.7535 1277 12 108931779 108931779 C A intronic SART3 NA NA NA intronic ENSG00000075856 NA NA NA NA NA 12q23.3 NA NA NA NA rs2287550 0.27 0.27 0.267 0.284145 0.2465 0.4663 0.1974 0.1286 0.407 0.26 0.44 0.22 0.11 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165865 NA NA NA NA NA 0.261 NA 3.7535 1277 19 11136857 11136857 C T intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs1019193 0.18 0.18 0.168 0.165535 0.2465 0.1905 0.1556 0.0303 0.2464 0.24 0.21 0.2 0.04 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754026 NA NA NA NA NA 0.174 NA 3.7535 1277 19 55481320 55481320 G C intronic NLRP2 NA NA NA intronic ENSG00000022556 NA NA NA NA NA 19q13.42 NA NA NA NA rs703465 0.31 0.31 0.315 0.286741 0.2465 0.3611 0.2378 0.3306 0.227 0.24 0.42 0.23 0.35 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574572 NA NA NA NA NA 0.312 NA 3.7535 1277 7 142162148 142162148 C T intergenic LOC730441,MTRNR2L6 dist=190080;dist=211983 NA NA exonic ENSG00000211724 NA nonsynonymous SNV ENSG00000211724:ENST00000390371:exon2:c.G127A:p.A43T NA NA 7q34 NA Name=GATA-1 NA NA rs71877 0.71 0.71 0.72 0.690296 0.6978 0.7917 0.572 0.733 0.6043 0.7 0.82 0.59 0.69 0.6719 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160965 NA 0.54 0.710215 0.726546 NA 0.645 NA 3.7534184 1277 10 114053870 114053870 C T intronic TECTB NA NA NA intronic ENSG00000119913 NA NA NA NA NA 10q25.2 NA NA NA NA rs41298239 0.04 0.04 0.048 0.0329473 0.0895 NA 0.0548 0.0083 0.0266 0.08 NA 0.08 0.01 0.0632 0.094 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03523 NA NA 0.094419 0.020654 NA 0.101 NA 3.752881 1277 6 116436944 116436944 A T intronic NT5DC1 NA NA NA intronic ENSG00000178425 NA NA NA NA NA 6q22.1 NA NA NA NA rs62414122 0.08 0.08 0.06 0.0708866 0.0746 0.0645 0.1816 0.0144 0.0716 0.08 0.09 0.18 0.02 0.0936 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462816 NA NA 0.078953 0.022015 NA 0.043 NA 3.752847 1277 1 203709068 203709068 T C UTR3 ATP2B4 NM_001684:c.*86T>C,NM_001001396:c.*369T>C NA NA UTR3 ENSG00000058668 ENST00000357681:c.*86T>C,ENST00000391954:c.*369T>C,ENST00000367219:c.*369T>C,ENST00000367218:c.*369T>C,ENST00000341360:c.*369T>C,ENST00000484746:c.*249T>C NA NA NA NA 1q32.1 NA NA NA NA rs955866 0.61 0.61 0.596 0.602037 0.5805 0.502 0.7334 0.6717 0.5399 0.59 0.53 0.72 0.67 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624079 NA NA NA NA NA 0.507 NA 3.7528334 1277 17 58040730 58040730 T C intronic RNFT1 NA NA NA ncRNA_intronic ENSG00000267104 NA NA NA NA NA 17q23.1 NA NA NA NA rs4968401 0.42 0.42 0.382 0.421126 0.5805 0.4256 0.5 0.1157 0.6094 0.58 0.4 0.52 0.11 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369527 NA NA NA NA NA 0.355 NA 3.7528333 1277 4 38880136 38880136 A T intronic FAM114A1 NA NA NA intronic ENSG00000197712 NA NA NA NA NA 4p14 NA NA NA NA rs11943209 0.23 0.23 0.217 0.203275 0.2475 0.0863 0.2061 0.3192 0.1196 0.27 0.08 0.22 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.962249 1.962249 NA NA NA NA 0.145 NA 3.7525 1277 4 185705006 185705006 G A intronic ACSL1 NA NA NA intronic ENSG00000151726 NA NA NA NA NA 4q35.1 NA NA NA NA rs2102862 0.27 0.27 0.273 0.247005 0.2475 0.2173 0.2723 0.2912 0.1994 0.26 0.25 0.27 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968972 NA NA NA NA NA 0.188 NA 3.7525 1277 5 178585589 178585589 C T intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs41285551 0.21 0.21 0.175 0.216054 0.2475 0.3254 0.2839 0.0083 0.3037 0.24 0.33 0.25 0.01 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09538 NA NA NA NA NA 0.138 NA 3.7525 1277 6 17817519 17817519 C T intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs41267720 0.24 0.24 0.22 0.217851 0.2475 0.2063 0.3329 0.2103 0.1278 0.24 0.24 0.3 0.21 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517409 NA NA NA NA NA 0.275 NA 3.7525 1277 6 42611872 42611872 A G intronic UBR2 NA NA NA intronic ENSG00000024048 NA NA NA NA NA 6p21.1 NA NA NA NA rs12198323 0.19 0.19 0.207 0.214457 0.2475 0.0913 0.196 0.2519 0.2699 0.24 0.09 0.15 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004335 NA NA NA NA NA 0.217 NA 3.7525 1277 9 32987451 32987451 G A intronic APTX NA NA NA intronic ENSG00000137074 NA NA NA NA NA 9p21.1 NA NA NA NA rs884546 0.16 0.16 0.153 0.136781 0.2475 0.0317 0.1945 0.1422 0.0828 0.24 0.05 0.22 0.11 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.644786 NA NA NA NA NA 0.283 NA 3.7525 1277 9 77748151 77748151 G A intronic OSTF1 NA NA NA intronic ENSG00000134996 NA NA NA NA NA 9q21.13 NA NA NA NA rs7040349 0.2 0.2 0.171 0.20627 0.2475 0.1329 0.2622 0.1831 0.2311 0.24 0.12 0.27 0.18 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400132 NA NA NA NA NA 0.254 NA 3.7525 1277 11 113566327 113566327 C A intronic TMPRSS5 NA NA NA intronic ENSG00000166682 NA NA NA NA NA 11q23.2 NA NA NA NA rs45503699 0.24 0.24 0.247 0.213458 0.2475 0.2619 0.1859 0.1135 0.2832 0.25 0.32 0.22 0.13 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292836 NA NA NA NA NA 0.239 NA 3.7525 1277 12 120588842 120588842 C T intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs3932409 0.29 0.29 0.301 0.290535 0.2475 0.4345 0.1628 0.292 0.2751 0.25 0.42 0.18 0.29 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593014 NA NA NA NA NA 0.174 NA 3.7525 1277 12 124081094 124081094 C T intronic TMED2 NA NA NA intronic ENSG00000086598 NA NA NA NA NA 12q24.31 NA NA NA NA rs16917551 0.14 0.14 0.132 0.144968 0.2475 0.0119 0.1427 0.1188 0.2137 0.25 0.01 0.15 0.11 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.578872 2.578872 NA NA NA NA 0.145 NA 3.7525 1277 14 100404067 100404067 A G intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA NA NA NA rs2295788 0.42 0.42 0.432 0.470647 0.2475 0.4216 0.4078 0.7829 0.3732 0.24 0.41 0.38 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147845 NA NA NA NA NA 0.42 NA 3.7525 1277 15 79317602 79317602 C T intronic RASGRF1 NA NA NA intronic ENSG00000058335 NA NA NA NA NA 15q25.1 NA NA NA NA rs2304992 0.18 0.18 0.19 0.150759 0.2475 0.1468 0.1441 0.1074 0.1186 0.24 0.15 0.18 0.13 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225101 NA NA NA NA NA 0.188 NA 3.7525 1277 19 5663920 5663920 T G intronic SAFB NA NA NA intronic ENSG00000160633 NA NA NA NA NA 19p13.3 NA NA NA NA rs3745628 0.19 0.19 0.177 0.172324 0.2475 0.0913 0.2651 0.1505 0.1421 0.23 0.1 0.25 0.17 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048705 NA NA NA NA NA 0.217 NA 3.7525 1277 21 43236284 43236284 G A intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs4075968 0.28 0.28 0.276 0.276757 0.2475 0.4236 0.2478 0.2262 0.2444 0.27 0.36 0.24 0.22 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30615 NA NA NA NA NA 0.261 NA 3.7525 1277 17 45377825 45377825 T C intronic ITGB3 NA NA NA intronic ENSG00000259207,ENSG00000259753 NA NA NA NA NA 17q21.32 NA NA NA NA rs11870252 0.12 0.12 0.102 0.120407 0.0815 0.1865 0.0865 0.1248 0.1104 0.06 0.21 0.11 0.09 0.0906 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187002 NA NA 0.075698 0.097367 ID=COSN165446;OCCURENCE=1(breast) 0.152 NA 3.752202 1277 10 129871748 129871748 G A intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA NA NA NA rs78196136 0.04 0.04 0.039 0.0345447 0.0875 0.001 0.0533 0.0151 0.0276 0.08 0.0017 0.05 0.01 0.0658 0.095 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08248 NA NA 0.094535 0.027236 NA 0.036 NA 3.752165 1277 X 2658800 2658800 T C intronic CD99 NA NA NA intronic ENSG00000002586 NA NA NA NA NA Xp22.33 NA NA NA NA rs312255 0.12 0.12 0.08585 NA NA NA NA NA NA 0.14 0.04 0.2 0.12 0.1059 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.289501 NA NA 0.142342 0.17635 NA 0.167 NA 3.751758 1277 20 24930221 24930221 G A intronic CST7 NA NA NA intronic ENSG00000077984 NA NA NA NA NA 20p11.21 NA NA NA NA rs45469992 0.04 0.04 0.042 0.0397364 0.0865 0.001 0.0389 0.0061 0.0777 0.09 0.0017 0.05 0.01 0.0705 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712285 NA NA 0.091279 0.015433 NA 0.022 NA 3.751721 1277 1 161203227 161203227 G A intronic NR1I3 NA NA NA intronic ENSG00000143257 NA NA NA NA NA 1q23.3 NA NA NA NA rs2502815 0.34 0.34 0.326 0.33766 0.2485 0.4355 0.3818 0.3563 0.272 0.25 0.42 0.35 0.39 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446363 NA NA NA NA NA 0.246 NA 3.7515 1277 1 224605825 224605825 A T intronic WDR26 NA NA NA intronic ENSG00000162923 NA NA NA NA NA 1q42.12 NA NA NA NA rs12739486 0.23 0.23 0.245 0.23103 0.2485 0.0109 0.1686 0.5068 0.1115 0.24 0.01 0.2 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406432 NA NA NA NA NA 0.362 NA 3.7515 1277 4 166259161 166259161 C T intronic MSMO1 NA NA NA intronic ENSG00000052802 NA NA NA NA NA 4q32.3 NA NA NA NA rs12501541 0.29 0.29 0.268 0.310304 0.2485 0.3462 0.4654 0.1558 0.4356 0.25 0.36 0.48 0.16 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316109 NA NA NA NA NA 0.203 NA 3.7515 1277 6 158331150 158331150 G A intronic SNX9 NA NA NA intronic ENSG00000130340 NA NA NA NA NA 6q25.3 NA NA NA NA rs2076573 0.2 0.2 0.209 0.205272 0.2485 0.1369 0.1383 0.2239 0.2536 0.25 0.13 0.16 0.24 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036242 NA NA NA NA NA 0.123 NA 3.7515 1277 7 939630 939630 G A intronic ADAP1 NA NA NA intronic ENSG00000105963,ENSG00000240230 NA NA NA NA NA 7p22.3 NA NA NA NA rs34786986 0.18 0.18 0.162 0.171126 0.2485 0.1379 0.3112 0.0348 0.2106 0.26 0.14 0.28 0.05 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187611 NA NA NA NA NA 0.246 NA 3.7515 1277 12 52622984 52622984 G A intergenic LINC00592,KRT7 dist=5387;dist=3970 NA NA ncRNA_exonic ENSG00000257649 NA NA NA NA NA 12q13.13 NA NA NA NA rs7314442 0.23 0.23 0.236 0.232428 0.2485 0.1806 0.1282 0.3313 0.2096 0.25 0.19 0.12 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341172 NA NA NA NA NA 0.232 NA 3.7515 1277 12 55806437 55806437 T C intergenic OR6C65,OR6C76 dist=11186;dist=13601 NA NA ncRNA_exonic ENSG00000179899 NA NA NA NA NA 12q13.2 NA NA NA NA rs11171453 0.22 0.22 0.201 0.254193 0.2485 0.1796 0.2478 0.2753 0.3129 0.24 0.16 0.23 0.27 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328794 NA 1 NA NA NA 0.239 NA 3.7515 1277 16 71319900 71319900 T C intronic FTSJD1 NA NA NA intronic ENSG00000180917 NA NA NA NA NA 16q22.2 NA NA NA NA rs9928675 0.29 0.29 0.283 0.277556 0.2485 0.2093 0.4784 0.2844 0.226 0.26 0.23 0.45 0.3 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471255 NA NA NA NA NA 0.333 NA 3.7515 1277 3 125250899 125250899 A G intronic OSBPL11 NA NA NA intronic ENSG00000144909 NA NA NA NA NA 3q21.2 NA NA NA NA rs56256275 0.05 0.05 0.043 0.0427316 0.0716 0.0397 0.0937 0.0045 0.0317 0.07 0.05 0.07 0.01 0.0768 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883227 NA NA 0.100256 0.023604 NA 0.014 NA 3.751344 1277 1 91781576 91781576 C A intronic HFM1 NA NA NA intronic ENSG00000162669 NA NA NA NA NA 1p22.2 NA NA NA NA rs12568483 0.11 0.11 0.108 0.104832 0.0726 0.1706 0.1167 0.1021 0.0654 0.09 0.14 0.15 0.1 0.0987 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.121203 NA NA 0.077363 0.104556 NA 0.08 NA 3.751337 1277 19 41928701 41928701 C T intronic BCKDHA NA NA NA intronic ENSG00000248098,ENSG00000255730 NA NA NA NA NA 19q13.2 NA NA NA NA rs284653 0.28 0.28 0.238 0.257388 0.4334 0.0913 0.3098 0.2103 0.274 0.42 0.09 0.37 0.2 0.3722 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883506 NA NA 0.44314 0.263958 NA 0.362 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079270.1;CLNDSDB=.;CLNDSDBID=. 3.75126 1277 19 46025388 46025388 G A intronic VASP NA NA NA intronic ENSG00000125753 NA NA NA NA NA 19q13.32 NA Name=Pol2-4H8 NA NA rs2301284 0.32 0.32 0.326 0.311102 0.4095 0.247 0.3285 0.2103 0.3998 0.4 0.27 0.35 0.23 0.3921 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012835 NA NA 0.447209 0.245574 NA 0.391 NA 3.751191 1277 8 95654043 95654043 C T intronic ESRP1 NA NA NA UTR5 ENSG00000104413 ENST00000520385:c.-4458C>T NA NA NA NA 8q22.1 NA NA NA NA rs62523409 0.39 0.39 0.372 0.371406 0.4155 0.5357 0.4251 0.0991 0.4867 0.44 0.57 0.43 0.1 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.400421 1.400421 NA NA NA NA 0.435 NA 3.7511667 1277 17 76198530 76198530 T G intronic AFMID NA NA NA intronic ENSG00000183077 NA NA NA NA NA 17q25.3 NA NA NA NA rs72897835 0.05 0.05 0.053 0.0401358 0.0835 0.001 0.0533 0.0106 0.0665 0.1 0.0017 0.07 0.02 0.0668 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160674 NA NA 0.098721 0.023831 NA 0.051 NA 3.750979 1277 2 229618184 229618184 T A intergenic SPHKAP,PID1 dist=571823;dist=270505 NA NA ncRNA_exonic ENSG00000237322 NA NA NA NA NA 2q36.3 NA NA NA NA rs16825347 0.24 0.24 0.247 0.228435 0.2495 0.0198 0.1988 0.5061 0.0675 0.26 0.02 0.22 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572518 NA NA NA NA NA 0.297 NA 3.7505 1277 12 51151052 51151052 A G intergenic DIP2B,ATF1 dist=8602;dist=6737 NA NA ncRNA_intronic ENSG00000271018 NA NA NA NA NA 12q13.12 NA NA NA NA rs73094900 0.24 0.24 0.137 0.248003 0.2495 0.3948 0.3069 0.0552 0.3139 0.25 0.32 0.3 0.08 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622548 NA NA NA NA NA 0.174 NA 3.7505 1277 19 21751843 21751843 A G intergenic ZNF429,ZNF100 dist=30764;dist=155000 NA NA ncRNA_intronic ENSG00000268081 NA NA NA NA NA 19p12 NA NA NA NA rs11085467 NA NA 0.294 0.179113 0.2495 0.2718 0.2695 0.0136 0.1708 NA NA NA NA NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32043 NA NA NA NA NA 0.167 NA 3.7505 1277 3 14176446 14176446 G A intronic TMEM43 NA NA NA intronic ENSG00000170876 NA NA NA NA NA 3p25.1 NA NA NA NA rs6766740 0.33 0.33 0.304 0.350839 0.2495 0.4583 0.366 0.3048 0.3957 0.25 0.4 0.35 0.34 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696651 NA NA NA NA NA 0.217 NA 3.7505 1277 7 128141136 128141136 T G intronic METTL2B NA NA NA intronic ENSG00000165055 NA NA NA NA NA 7q32.1 NA NA NA NA rs3802007 0.27 0.27 0.225 0.277955 0.2495 0.251 0.2493 0.3207 0.2975 0.24 0.24 0.28 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022806 NA NA NA NA NA 0.261 NA 3.7505 1277 13 110861670 110861670 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs7332120 0.17 0.17 0.177 0.214257 0.2495 0.0546 0.3631 0.2579 0.1779 0.19 0.04 0.26 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212324 NA NA NA NA ID=COSN164555;OCCURENCE=1(breast) NA NA 3.7505 1277 13 110861671 110861671 T C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs7333204 0.17 0.17 0.174 0.214257 0.2495 0.0546 0.3631 0.2579 0.1779 0.19 0.04 0.26 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21884 NA NA NA NA ID=COSN164556;OCCURENCE=1(breast) NA NA 3.7505 1277 15 81430305 81430305 C G intronic C15orf26 NA NA NA intronic ENSG00000156206 NA NA NA NA NA 15q25.1 NA NA NA NA rs55908952 0.12 0.12 0.113 0.0914537 0.2495 0.002 0.1354 0.0151 0.093 0.25 0.0035 0.15 0.02 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368745 NA NA NA NA NA 0.101 NA 3.7505 1277 21 43236315 43236315 G A intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs4075969 0.33 0.33 0.336 0.342652 0.2495 0.4226 0.2752 0.4463 0.2638 0.27 0.36 0.27 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631818 NA NA NA NA NA 0.333 NA 3.7505 1277 12 21715801 21715801 A G intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA Name=TCF4 Name=4 NA rs1473421 0.73 0.73 0.722 0.72504 0.7455 0.7629 0.7435 0.6104 0.8067 0.76 0.77 0.73 0.64 0.7528 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745763 NA NA 0.751395 0.652292 NA 0.601 NA 3.750305 1277 X 2658783 2658783 C A intronic CD99 NA NA NA intronic ENSG00000002586 NA NA NA NA NA Xp22.33 NA NA NA NA rs312256 0.12 0.12 0.09618 NA NA NA NA NA NA 0.14 0.06 0.2 0.12 0.1073 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804335 NA NA 0.142458 0.177712 NA 0.167 NA 3.750242 1277 2 154801196 154801196 A G intronic GALNT13 NA NA NA intronic ENSG00000144278 NA NA NA NA NA 2q23.3 NA NA NA NA rs72865049 0.06 0.06 0.057 0.0728834 0.0765 0.0833 0.0548 0.0461 0.1074 0.07 0.05 0.07 0.04 0.079 0.094 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589571 NA NA 0.094419 0.047435 NA 0.138 NA 3.750081 1277 2 233272146 233272146 G C intronic ALPPL2 NA NA NA intronic ENSG00000163286 NA NA NA NA NA 2q37.1 NA NA NA NA rs2945420 0.09 0.09 0.067 0.0922524 0.0775 0.2153 0.062 0.0393 0.0736 0.07 0.19 0.05 0.03 0.0897 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259427 NA NA 0.082791 0.055177 NA 0.145 NA 3.750009 1277 1 224588825 224588825 T A intronic WDR26 NA NA NA intronic ENSG00000162923 NA NA NA NA NA 1q42.11 NA NA NA NA rs7518109 0.24 0.24 0.249 0.24401 0.2505 0.0109 0.17 0.553 0.1125 0.24 0.01 0.2 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254689 NA NA NA NA NA 0.391 NA 3.7495 1277 2 128087651 128087651 C T intronic MAP3K2 NA NA NA intronic ENSG00000169967 NA NA NA NA NA 2q14.3 NA NA NA NA rs61422716 0.16 0.16 0.163 0.176518 0.2505 0.001 0.1427 0.2284 0.2352 0.24 0.0017 0.14 0.23 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089514 NA NA NA NA NA 0.333 NA 3.7495 1277 12 48145368 48145368 A G intronic RAPGEF3 NA NA NA intronic ENSG00000079337 NA NA NA NA NA 12q13.11 NA NA NA NA rs2072115 0.21 0.21 0.199 0.190495 0.2505 0.1607 0.1772 0.2405 0.1012 0.24 0.15 0.2 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059238 NA NA NA NA NA 0.159 NA 3.7495 1277 12 52623029 52623029 T C intergenic LINC00592,KRT7 dist=5432;dist=3925 NA NA ncRNA_exonic ENSG00000257649 NA NA NA NA NA 12q13.13 NA NA NA NA rs7299945 0.21 0.21 0.201 0.23103 0.2505 0.1835 0.1239 0.3245 0.2096 0.24 0.17 0.1 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414766 NA NA NA NA ID=COSN164251;OCCURENCE=1(NS) 0.217 NA 3.7495 1277 18 20817276 20817276 G C intronic CABLES1 NA NA NA intronic ENSG00000134490,ENSG00000134508 NA NA NA NA NA 18q11.2 NA NA NA NA rs12185467 0.16 0.16 0.148 0.135383 0.2505 0.005 0.183 0.1241 0.1329 0.26 0.01 0.22 0.13 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360666 NA NA NA NA NA 0.101 NA 3.7495 1277 11 193925 193925 G A intronic LOC653486,SCGB1C1 NA NA NA intronic ENSG00000177951,ENSG00000188076 NA NA NA NA NA 11p15.5 NA NA NA NA rs2294080 0.12 0.12 0.094 NA NA NA NA NA NA 0.12 0.13 0.1 0.1 0.1447 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378145 NA NA 0.105844 0.090168 NA 0.08 NA 3.749456 1277 1 113657538 113657538 G A intronic LRIG2 NA NA NA intronic ENSG00000198799 NA NA NA NA NA 1p13.2 NA NA NA NA rs17442872 0.05 0.05 0.051 0.0405351 0.0915 0.0308 0.0432 0.0023 0.0481 0.11 0.03 0.04 0.0041 0.0687 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030674 NA NA 0.090349 0.020654 NA 0.029 NA 3.749451 1277 9 36116970 36116970 C T intronic RECK NA NA NA intronic ENSG00000122707 NA NA NA NA NA 9p13.3 NA NA NA NA rs3818555 0.15 0.15 0.127 0.13778 0.0835 0.251 0.1556 0.1029 0.1115 0.09 0.26 0.12 0.12 0.0991 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.055123 2.055123 NA 0.068372 0.10168 ID=COSN168539;OCCURENCE=1(large_intestine) 0.101 NA 3.749028 1277 6 44148568 44148568 C T intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA NA NA rs58040611 0.08 0.08 0.075 0.0984425 0.0815 0.001 0.1009 0.1762 0.1094 0.07 0.0017 0.11 0.18 0.0858 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60014 NA NA 0.083749 0.153773 NA 0.13 NA 3.748951 1277 17 33353332 33353332 T C ncRNA_intronic RAD51L3-RFFL NA NA NA intronic ENSG00000092871,ENSG00000267618 NA NA NA NA NA 17q12 NA NA NA NA rs3926358 0.66 0.66 0.654 0.685104 0.5845 0.6062 0.5749 0.9123 0.6411 0.6 0.59 0.58 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38451 NA NA NA NA NA 0.725 NA 3.7488333 1277 20 57571763 57571763 A G exonic CTSZ NA synonymous SNV CTSZ:NM_001336:exon5:c.T732C:p.S244S exonic ENSG00000101160 NA synonymous SNV ENSG00000101160:ENST00000217131:exon5:c.T732C:p.S244S NA NA 20q13.32 NA NA NA NA rs9760 0.7 0.7 0.688 0.698882 0.6352 0.7798 0.6167 0.7451 0.6769 0.64 0.81 0.66 0.72 0.6407 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856004 NA NA 0.642093 0.719927 NA 0.71 NA 3.7486736 1277 19 16038365 16038365 C G intronic CYP4F11 NA NA NA intronic ENSG00000171903 NA NA NA NA NA 19p13.12 NA NA NA NA rs2305804 0.14 0.14 0.123 0.185703 0.1223 0.1558 0.1455 0.1823 0.3149 0.12 0.13 0.15 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520101 NA NA 0.129164 0.131503 NA 0.072 NA 3.748536 1277 1 8415290 8415290 C A intronic RERE NA NA NA intronic ENSG00000142599 NA NA NA NA NA 1p36.23 NA NA NA NA rs1889853 0.17 0.17 0.176 0.150559 0.2515 0.1151 0.1715 0.0734 0.1728 0.25 0.12 0.2 0.08 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.185138 NA NA NA NA NA 0.159 NA 3.7485 1277 10 88819133 88819133 T C intronic GLUD1 NA NA NA intronic ENSG00000148672 NA NA NA NA NA 10q23.2 NA NA NA NA rs2296062 0.47 0.47 0.467 0.434704 0.2515 0.6865 0.4179 0.5643 0.2004 0.25 0.72 0.39 0.57 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881388 NA NA NA NA NA 0.362 NA 3.7485 1277 11 77314503 77314503 A G intronic AQP11 NA NA NA intronic ENSG00000074201,ENSG00000178301 NA NA NA NA NA 11q14.1 NA NA NA NA rs2032395 0.19 0.19 0.183 0.19349 0.2515 0.1131 0.1888 0.1846 0.2321 0.24 0.11 0.23 0.18 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.515187 3.515187 NA NA NA NA 0.239 NA 3.7485 1277 17 680299 680299 T C intronic GLOD4 NA NA NA intronic ENSG00000167699 NA NA NA NA NA 17p13.3 NA NA NA NA rs2273453 0.15 0.15 0.137 0.148562 0.2515 0.0952 0.1787 0.0287 0.2382 0.25 0.1 0.2 0.03 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221828 NA NA NA NA NA 0.159 NA 3.7485 1277 19 7690684 7690684 C T intronic XAB2 NA NA NA intronic ENSG00000076924 NA NA NA NA NA 19p13.2 NA NA NA NA rs794081 0.18 0.18 0.151 0.160743 0.2515 0.1181 0.1945 0.1233 0.138 0.25 0.12 0.2 0.13 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.706228 NA NA NA NA NA 0.181 NA 3.7485 1277 20 43559043 43559043 G T intronic PABPC1L NA NA NA intronic ENSG00000101104 NA NA NA NA NA 20q13.12 NA NA NA NA rs3746580 0.23 0.23 0.201 0.226837 0.2515 0.2183 0.3415 0.1589 0.2209 0.24 0.22 0.33 0.15 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183104 NA NA NA NA NA 0.13 NA 3.7485 1277 5 176017549 176017549 C T intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA Name=6 NA rs4868662 0.25 0.25 0.22 0.223642 0.4414 0.0278 0.4063 0.1301 0.1984 0.44 0.02 0.4 0.1 0.3622 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135991 NA NA 0.448244 0.172265 NA 0.261 NA 3.748156 1277 11 82878393 82878393 G A intronic PCF11 NA NA NA intronic ENSG00000165494 NA NA NA NA NA 11q14.1 NA NA NA NA rs17144692 0.09 0.09 0.099 0.102037 0.0795 0.0506 0.0677 0.1573 0.1278 0.07 0.05 0.08 0.18 0.088 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290076 NA NA 0.084668 0.143893 NA 0.116 NA 3.747832 1277 14 56125366 56125366 C T intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs74053651 0.08 0.08 0.081 0.0860623 0.0636 0.0159 0.0836 0.1354 0.1166 0.07 0.02 0.08 0.16 0.0868 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222666 NA NA 0.101932 0.134589 NA 0.051 NA 3.747668 1277 5 41739684 41739684 G A intronic OXCT1 NA NA NA intronic ENSG00000083720 NA NA NA NA NA 5p13.1 NA NA NA NA rs33967331 0.2 0.2 0.193 0.216653 0.2525 0.0308 0.2954 0.2897 0.2168 0.24 0.02 0.28 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915175 NA NA NA NA NA 0.217 NA 3.7475 1277 5 145508457 145508457 T C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs2895648 0.2 0.2 0.163 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490623 NA NA NA NA ID=COSN167582;OCCURENCE=1(large_intestine) 0.268 NA 3.7475 1277 5 145508471 145508471 T C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs2895649 0.2 0.2 0.173 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052294 NA NA NA NA NA 0.268 NA 3.7475 1277 6 15500999 15500999 G A intronic JARID2 NA NA NA intronic ENSG00000008083 NA NA NA NA NA 6p22.3 NA NA NA NA rs13192234 0.22 0.22 0.205 0.199281 0.2525 0.3165 0.2176 0.0893 0.1595 0.25 0.29 0.2 0.09 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974195 NA NA NA NA NA 0.304 NA 3.7475 1277 9 138439904 138439904 C T intronic OBP2A NA NA NA intronic ENSG00000122136 NA NA NA NA NA 9q34.3 NA NA NA NA rs72766546 0.17 0.17 0.161 0.155152 0.2525 0.1567 0.1354 0.0605 0.1953 0.26 0.14 0.17 0.07 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608594 NA NA NA NA NA 0.196 NA 3.7475 1277 10 103609704 103609704 G T intronic C10orf76 NA NA NA intronic ENSG00000120029 NA NA NA NA NA 10q24.32 NA NA NA NA rs7918620 0.34 0.34 0.319 0.310703 0.2525 0.4722 0.2464 0.2837 0.2863 0.25 0.51 0.3 0.3 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115644 NA NA NA NA NA 0.326 NA 3.7475 1277 18 30672711 30672711 A G intronic CCDC178 NA NA NA intronic ENSG00000166960 NA NA NA NA NA 18q12.1 NA NA NA NA rs271474 0.15 0.15 0.157 0.149561 0.0875 0.0952 0.0937 0.3442 0.046 0.08 0.1 0.09 0.35 0.09 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464704 NA NA 0.075187 0.289581 NA 0.101 NA 3.747313 1277 5 83402456 83402456 C T intronic EDIL3 NA NA NA intronic ENSG00000164176 NA NA NA NA NA 5q14.3 NA NA NA NA rs55742505 0.04 0.04 0.038 0.0483227 0.0825 0.0198 0.0648 0.0136 0.0777 0.08 0.01 0.07 0.01 0.0772 0.093 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.76054 1.76054 NA 0.09314 0.022242 NA 0.065 NA 3.74716 1277 2 216259479 216259479 G A intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA NA NA rs71428382 0.04 0.04 0.038 0.0303514 0.0855 NA 0.0317 0.0061 0.0368 0.08 NA 0.03 0.01 0.066 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.664787 2.664787 NA 0.101512 0.020654 NA 0.007 NA 3.746988 1277 12 124267703 124267703 T C exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon7:c.T708C:p.S236S exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon7:c.T708C:p.S236S NA NA 12q24.31 NA NA NA NA rs11057355 0.79 0.79 0.781 0.801318 0.6451 0.996 0.7262 0.8321 0.773 0.64 1 0.73 0.83 0.6702 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47632 1.47632 NA 0.604651 0.788016 NA 0.667 NA 3.7467156 1277 4 69383356 69383356 A T intergenic TMPRSS11E,UGT2B17 dist=20034;dist=19547 NA NA ncRNA_exonic ENSG00000250566 NA NA NA NA NA 4q13.2 NA NA NA NA rs12507161 0.25 0.25 NA 0.291733 0.2535 0.2192 0.4452 0.2526 0.3497 0.21 0.26 0.36 0.22 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124472 NA NA NA NA NA NA NA 3.7465 1277 4 69383357 69383357 T A intergenic TMPRSS11E,UGT2B17 dist=20035;dist=19546 NA NA ncRNA_exonic ENSG00000250566 NA NA NA NA NA 4q13.2 NA NA NA NA rs12507990 0.25 0.25 NA 0.291534 0.2535 0.2192 0.4438 0.2526 0.3497 0.21 0.27 0.36 0.22 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232384 NA NA NA NA NA NA NA 3.7465 1277 5 145500157 145500157 A G intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs11167931 0.2 0.2 0.17 0.184904 0.2535 0.1984 0.3775 0.0189 0.1881 0.25 0.2 0.3 0.04 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433023 NA NA NA NA NA 0.275 NA 3.7465 1277 5 145539123 145539123 T A intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs13182567 0.2 0.2 0.161 0.181909 0.2535 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346718 NA NA NA NA NA 0.268 NA 3.7465 1277 9 27202662 27202662 C T intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs551519 0.17 0.17 0.169 0.154752 0.2535 0.122 0.1614 0.087 0.1738 0.25 0.12 0.2 0.11 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000008 NA NA NA NA NA 0.181 NA 3.7465 1277 11 117784714 117784714 T C intronic TMPRSS13 NA NA NA intronic ENSG00000137747 NA NA NA NA NA 11q23.3 NA NA NA NA rs11216618 0.17 0.17 0.152 0.164936 0.2535 0.1181 0.1772 0.056 0.2607 0.25 0.11 0.21 0.07 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711463 NA NA NA NA NA 0.181 NA 3.7465 1277 15 92829452 92829452 G A intergenic SLCO3A1,ST8SIA2 dist=113787;dist=107688 NA NA ncRNA_exonic ENSG00000258925 NA NA NA NA NA 15q26.1 NA NA NA NA rs28566962 0.17 0.17 0.147 0.145567 0.2535 0.0972 0.2089 0.084 0.1227 0.24 0.12 0.21 0.12 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574786 NA NA NA NA NA 0.087 NA 3.7465 1277 19 8996182 8996182 C T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs56136170 0.29 0.29 0.275 0.338059 0.2535 0.4067 0.2594 0.2738 0.4969 0.26 0.36 0.24 0.28 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740569 NA NA NA NA NA 0.319 NA 3.7465 1277 19 8997343 8997343 C T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs55785038 0.29 0.29 0.288 0.344449 0.2535 0.4058 0.2622 0.2965 0.498 0.25 0.36 0.24 0.31 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817115 NA NA NA NA NA 0.355 NA 3.7465 1277 20 50310709 50310709 G A intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6013259 0.17 0.17 0.158 0.164537 0.2535 0.004 0.1801 0.2368 0.1299 0.24 0.0035 0.19 0.23 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603332 NA NA NA NA NA 0.101 NA 3.7465 1277 21 43231271 43231271 A G intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs28610063 0.28 0.28 0.276 0.284944 0.2535 0.4246 0.2493 0.2352 0.2658 0.27 0.36 0.24 0.22 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121755 NA NA NA NA NA 0.275 NA 3.7465 1277 22 30731387 30731387 C G intronic SF3A1 NA NA NA intronic ENSG00000099995 NA NA NA NA NA 22q12.2 NA NA NA NA rs17657174 0.18 0.18 0.175 0.153754 0.2535 0.1448 0.1571 0.1331 0.0859 0.24 0.12 0.17 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32372 NA NA NA NA NA 0.275 NA 3.7465 1277 22 30734716 30734716 C T intronic SF3A1 NA NA NA intronic ENSG00000099995 NA NA NA NA NA 22q12.2 NA NA NA NA rs17730538 0.18 0.18 0.179 0.153754 0.2535 0.1448 0.1571 0.1331 0.0859 0.24 0.12 0.17 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608354 NA NA NA NA NA 0.275 NA 3.7465 1277 22 30736559 30736559 G A intronic SF3A1 NA NA NA intronic ENSG00000099995 NA NA NA NA NA 22q12.2 NA NA NA NA rs13057861 0.18 0.18 0.179 0.153754 0.2535 0.1448 0.1571 0.1331 0.0859 0.24 0.12 0.17 0.14 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488743 NA NA NA NA NA 0.268 NA 3.7465 1277 1 1689762 1689762 T C intronic NADK NA NA NA intronic ENSG00000008130 NA NA NA NA NA 1p36.33 NA Name=ETS1 NA NA rs2235537 0.38 0.38 0.389 0.359625 0.4215 0.4177 0.2824 0.3336 0.3262 0.42 0.43 0.31 0.3 0.4 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665972 NA NA 0.432446 0.35274 NA 0.399 NA 3.746054 1277 10 97156908 97156908 T C intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA NA NA 10q24.1 NA NA NA NA rs17110707 0.19 0.19 0.171 0.180511 0.1372 0.4226 0.1427 0.0469 0.183 0.15 0.43 0.14 0.03 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580863 NA NA 0.116908 0.046243 NA 0.254 NA 3.745892 1277 4 187122319 187122319 T G exonic CYP4V2 NA synonymous SNV CYP4V2:NM_207352:exon7:c.T810G:p.A270A exonic ENSG00000145476 NA synonymous SNV ENSG00000145476:ENST00000378802:exon7:c.T810G:p.A270A NA NA 4q35.2 NA NA NA NA rs3736455 0.55 0.55 0.547 0.577476 0.672 0.4077 0.4914 0.6384 0.6339 0.68 0.36 0.53 0.59 0.5982 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49645 NA NA 0.650814 0.618702 ID=COSM149773;OCCURENCE=1(stomach) 0.457 NA 3.7456526 1277 2 71282522 71282522 A G intergenic OR7E91P,NAGK dist=25462;dist=12886 NA NA ncRNA_intronic ENSG00000236469 NA NA NA NA NA 2p13.3 NA NA NA NA rs12993301 0.47 0.47 0.437 0.467851 0.2545 0.88 0.4006 0.32 0.5102 0.25 0.89 0.42 0.34 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.052354 NA NA NA NA NA 0.319 NA 3.7455 1277 6 29770187 29770187 A C intergenic LOC554223,HLA-G dist=4603;dist=24569 NA NA ncRNA_exonic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs1610655 0.22 0.22 0.193 0.228035 0.2545 0.1071 0.2421 0.2398 0.2996 0.25 0.13 0.22 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208565 NA NA NA NA NA 0.217 NA 3.7455 1277 8 134108295 134108295 A G intronic SLA,TG NA NA NA intronic ENSG00000042832,ENSG00000155926 NA NA NA NA NA 8q24.22 NA NA NA NA rs10106820 0.16 0.16 0.144 0.153554 0.2545 0.001 0.2997 0.1558 0.1002 0.25 0.0017 0.29 0.13 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24744 NA NA NA NA NA 0.116 NA 3.7455 1277 12 6094082 6094082 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs24177 0.31 0.31 0.296 0.307907 0.2545 0.4871 0.3602 0.1104 0.408 0.26 0.52 0.35 0.12 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115961 NA NA NA NA NA 0.21 NA 3.7455 1277 13 107145829 107145829 A T intronic EFNB2 NA NA NA intronic ENSG00000125266 NA NA NA NA NA 13q33.3 NA NA NA NA rs3742160 0.36 0.36 0.35 0.380192 0.2545 0.4226 0.4164 0.3911 0.4254 0.24 0.4 0.4 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660621 NA NA NA NA NA 0.29 NA 3.7455 1277 17 40686040 40686040 C T intergenic ATP6V0A1,NAGLU dist=11443;dist=1911 NA NA downstream ENSG00000267185 NA NA NA Score=737;Name=lod=1314 NA 17q21.2 NA NA NA NA rs4793099 0.75 0.75 0.736 0.719449 0.7545 0.7212 0.8199 0.7428 0.5787 0.74 0.74 0.83 0.72 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486465 NA NA NA NA NA 0.601 NA 3.7455 1277 21 43319043 43319043 C T intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA NA NA NA rs9984905 0.24 0.24 0.256 0.251597 0.2545 0.0982 0.1599 0.3949 0.2781 0.25 0.1 0.18 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385949 NA NA NA NA NA 0.29 NA 3.7455 1277 9 116048977 116048977 T C intronic PRPF4 NA NA NA intronic ENSG00000136875 NA NA NA NA NA 9q32 NA NA NA NA rs10981714 0.13 0.13 0.131 0.128395 0.0805 0.3155 0.0476 0.0083 0.2045 0.07 0.35 0.05 0.01 0.0995 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395709 NA NA 0.074884 0.019519 NA 0.087 NA 3.745116 1278 X 35984887 35984887 G A intronic CXorf22 NA NA NA intronic ENSG00000165164 NA NA NA NA NA Xp21.1 NA NA NA NA rs10482306 0.32 0.32 0.31876 NA NA NA NA NA NA 0.09 0.33 0.31 0.68 0.1942 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.350301 NA NA 0.060957 0.670232 NA 0.217 NA 3.744843 1278 18 13068323 13068323 T G intronic CEP192 NA NA NA intronic ENSG00000101639 NA NA NA NA NA 18p11.21 NA NA NA NA rs75188168 0.05 0.05 0.042 0.0369409 0.0934 NA 0.0605 0.0068 0.0409 0.09 NA 0.07 0.01 0.07 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02074 NA NA 0.092041 0.01793 NA 0.072 NA 3.744559 1278 10 102506103 102506103 C A intronic PAX2 NA NA NA intronic ENSG00000075891 NA NA NA NA NA 10q24.31 NA Name=ZNF263 NA NA rs4405241 0.51 0.51 0.431 0.499601 0.3996 0.9534 0.4683 0.1967 0.5665 0.41 0.96 0.44 0.21 0.4645 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026408 NA NA 0.39137 0.225374 NA 0.304 NA 3.74453 1278 1 181727030 181727030 A T intronic CACNA1E NA NA NA intronic ENSG00000198216 NA NA NA NA NA 1q25.3 NA NA NA NA rs12564606 0.22 0.22 0.219 0.271366 0.2555 0.0754 0.2896 0.3654 0.3497 0.26 0.06 0.24 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425254 NA NA NA NA NA 0.246 NA 3.7445 1278 6 29769332 29769332 G A intergenic LOC554223,HLA-G dist=3748;dist=25424 NA NA ncRNA_intronic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs1610710 0.23 0.23 0.224 0.232228 0.2555 0.1091 0.245 0.2504 0.3016 0.25 0.14 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229088 NA NA NA NA NA 0.254 NA 3.7445 1278 6 29769497 29769497 A C intergenic LOC554223,HLA-G dist=3913;dist=25259 NA NA ncRNA_exonic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs1610711 0.23 0.23 0.234 0.232228 0.2555 0.1091 0.245 0.2504 0.3016 0.26 0.14 0.22 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724688 NA NA NA NA NA 0.254 NA 3.7445 1278 9 117165737 117165737 C T intronic DFNB31 NA NA NA intronic ENSG00000095397 NA NA NA NA NA 9q32 NA NA NA NA rs55833018 0.19 0.19 0.208 0.181709 0.2555 0.127 0.17 0.1316 0.2382 0.25 0.13 0.21 0.13 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26312 NA NA NA NA NA 0.152 NA 3.7445 1278 10 24822219 24822219 C G intronic KIAA1217 NA NA NA intronic ENSG00000120549 NA NA NA NA NA 10p12.1 NA NA NA NA rs11598911 0.12 0.12 0.102 0.109824 0.2555 0.004 0.1686 0.0121 0.1595 0.26 0.0035 0.19 0.01 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365809 NA NA NA NA NA 0.101 NA 3.7445 1278 12 418916 418916 C T intronic KDM5A NA NA NA intronic ENSG00000073614 NA NA NA NA NA 12p13.33 NA NA NA NA rs4980877 0.41 0.41 0.412 0.419329 0.2555 0.5635 0.3415 0.5083 0.3742 0.27 0.56 0.34 0.53 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606341 NA NA NA NA NA 0.384 NA 3.7445 1278 14 23851882 23851882 C A intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs10135780 0.21 0.21 0.195 0.223642 0.2555 0.1815 0.2277 0.1384 0.3466 0.25 0.19 0.26 0.14 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161627 NA NA NA NA NA 0.174 NA 3.7445 1278 22 31018884 31018884 G C intronic TCN2 NA NA NA intronic ENSG00000185339 NA NA NA NA NA 22q12.2 NA NA NA NA rs2301958 0.23 0.23 0.234 0.223442 0.2555 0.2242 0.1974 0.2027 0.2362 0.26 0.21 0.2 0.21 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398366 NA NA NA NA NA 0.254 NA 3.7445 1278 20 43251434 43251434 C T intronic ADA NA NA NA intronic ENSG00000168734,ENSG00000196839 NA NA NA NA NA 20q13.12 NA NA NA NA rs6031679 0.09 0.09 0.093 0.114417 0.0845 0.125 0.0836 0.1074 0.1656 0.09 0.09 0.09 0.1 0.0964 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.980868 1.980868 NA 0.074651 0.084657 NA 0.072 NA 3.744449 1278 18 13068339 13068339 T A intronic CEP192 NA NA NA intronic ENSG00000101639 NA NA NA NA NA 18p11.21 NA NA NA NA rs75368222 0.05 0.05 0.038 0.0369409 0.0934 NA 0.0605 0.0068 0.0409 0.09 NA 0.07 0.01 0.07 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824745 NA NA 0.092317 0.017743 NA 0.072 NA 3.744283 1278 13 20235992 20235992 T C intronic MPHOSPH8 NA NA NA intronic ENSG00000196199 NA NA NA NA NA 13q12.11 NA NA NA NA rs9579617 0.1 0.1 0.088 0.107428 0.0964 0.0764 0.0735 0.2005 0.0491 0.09 0.06 0.06 0.2 0.0853 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879215 NA NA 0.074302 0.180436 NA 0.181 NA 3.743998 1278 5 101627027 101627027 T C intronic SLCO4C1 NA NA NA intronic ENSG00000173930 NA NA NA NA NA 5q21.1 Score=912;Name=V$HFH3_01 NA NA NA rs841929 0.53 0.53 0.55 0.557907 0.4115 0.5516 0.5821 0.7163 0.4836 0.41 0.52 0.56 0.71 0.4488 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24312 NA NA 0.395814 0.665456 NA 0.551 NA 3.743886 1278 6 62407067 62407067 G T intronic KHDRBS2 NA NA NA intronic ENSG00000112232 NA NA NA Score=461;Name=lod=100 NA 6q11.1 NA NA NA NA rs1555167 0.38 0.38 0.348 0.357628 0.4364 0.5179 0.4697 0.1619 0.2965 0.43 0.5 0.44 0.12 0.3943 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.665357 3.665357 NA 0.425465 0.200862 ID=COSN167819;OCCURENCE=1(lung),1(large_intestine) 0.384 NA 3.743835 1278 3 4403767 4403767 A G UTR3 SUMF1 NM_001164674:c.*61T>C,NM_001164675:c.*61T>C,NM_182760:c.*61T>C NA NA UTR3 ENSG00000144455 ENST00000272902:c.*61T>C,ENST00000383843:c.*61T>C,ENST00000458465:c.*61T>C NA NA NA NA 3p26.1 NA NA NA NA rs2819561 0.67 0.67 0.651 0.704473 0.5895 0.7609 0.6744 0.7201 0.7648 0.59 0.75 0.67 0.68 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859447 NA NA NA NA NA 0.572 NA 3.7438334 1278 19 4818378 4818378 T C exonic TICAM1 NA synonymous SNV TICAM1:NM_182919:exon2:c.A12G:p.T4T exonic ENSG00000127666 NA synonymous SNV ENSG00000127666:ENST00000248244:exon2:c.A12G:p.T4T NA NA 19p13.3 NA NA NA NA rs7255265 0.71 0.71 0.723 0.725639 0.6233 0.5893 0.6671 0.9735 0.6779 0.65 0.62 0.65 0.97 0.6652 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276417 NA NA 0.634351 0.921101 NA 0.638 NA 3.7438156 1278 6 32975014 32975014 T C intronic HLA-DOA NA NA NA intronic ENSG00000204252 NA NA NA NA Name=Platelet counts 6p21.32 NA NA NA NA rs399604 0.4 0.4 0.363 0.392173 0.4294 0.5496 0.3501 0.3071 0.3364 0.43 0.49 0.33 0.31 0.4051 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811199 NA NA 0.42169 0.349682 NA 0.319 NA 3.74381 1278 6 39865047 39865047 T C exonic DAAM2 NA synonymous SNV DAAM2:NM_001201427:exon21:c.T2607C:p.A869A,DAAM2:NM_015345:exon21:c.T2607C:p.A869A exonic ENSG00000146122 NA synonymous SNV ENSG00000146122:ENST00000274867:exon21:c.T2607C:p.A869A,ENSG00000146122:ENST00000398904:exon21:c.T2607C:p.A869A,ENSG00000146122:ENST00000538976:exon21:c.T2607C:p.A869A NA NA 6p21.2 NA NA NA NA rs3004067 0.73 0.73 0.719 0.756589 0.6362 0.8671 0.611 0.8283 0.773 0.63 0.9 0.58 0.79 0.6725 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101018 NA NA 0.614217 0.776385 NA 0.783 NA 3.7437496 1278 2 152490219 152490219 A G exonic NEB NA synonymous SNV NEB:NM_001164507:exon65:c.T9363C:p.P3121P,NEB:NM_001164508:exon65:c.T9363C:p.P3121P,NEB:NM_001271208:exon65:c.T9363C:p.P3121P exonic ENSG00000183091 NA synonymous SNV ENSG00000183091:ENST00000603639:exon63:c.T9363C:p.P3121P,ENSG00000183091:ENST00000604864:exon63:c.T9363C:p.P3121P,ENSG00000183091:ENST00000397345:exon65:c.T9363C:p.P3121P,ENSG00000183091:ENST00000427231:exon65:c.T9363C:p.P3121P NA NA 2q23.3 NA NA NA NA rs6709886 0.67 0.67 0.633 0.625998 0.6521 0.7728 0.683 0.5227 0.547 0.64 0.8 0.67 0.58 0.6362 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683589 NA NA 0.634821 0.515896 NA 0.58 NA 3.7435456 1278 3 191075656 191075656 G A intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA NA NA NA rs13434281 0.15 0.15 0.128 0.134984 0.2565 NA 0.2464 0.0877 0.1339 0.28 NA 0.24 0.07 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555762 NA NA NA NA NA 0.087 NA 3.7435 1278 5 137760083 137760083 A C intronic KDM3B NA NA NA intronic ENSG00000120733 NA NA NA NA NA 5q31.2 NA NA NA NA rs740077 0.37 0.37 0.376 0.385383 0.2565 0.5813 0.255 0.4546 0.3149 0.26 0.56 0.22 0.43 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429744 NA NA NA NA NA 0.413 NA 3.7435 1278 7 21260371 21260371 G A intergenic RPL23P8,SP4 dist=392932;dist=207318 NA NA ncRNA_exonic ENSG00000225308 NA NA NA NA NA 7p15.3 NA NA NA NA rs4721994 0.23 0.23 0.211 0.190296 0.2565 0.1845 0.1729 0.1778 0.1575 0.26 0.2 0.2 0.21 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950064 NA NA NA NA NA 0.181 NA 3.7435 1278 12 6134949 6134949 C G intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs56121649 0.24 0.24 0.198 0.221446 0.2565 0.003 0.1945 0.466 0.0992 0.28 0.0017 0.25 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173779 NA NA NA NA NA 0.167 NA 3.7435 1278 12 6134987 6134987 C A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs56068059 0.24 0.24 0.208 0.221246 0.2565 0.003 0.1945 0.4652 0.0992 0.28 0.0017 0.27 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002476 NA NA NA NA NA 0.21 NA 3.7435 1278 12 6135265 6135265 C T intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs34877178 0.22 0.22 0.218 0.221046 0.2565 0.003 0.1945 0.4644 0.0992 0.25 0.0017 0.22 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125283 NA NA NA NA NA 0.196 NA 3.7435 1278 12 6138410 6138410 T C intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs11063999 0.18 0.18 0.156 0.179113 0.2565 0.003 0.1902 0.3079 0.0992 0.25 0.0017 0.22 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275256 NA NA NA NA NA 0.159 NA 3.7435 1278 19 3434224 3434224 G A intronic NFIC NA NA NA intronic ENSG00000141905 NA NA NA NA NA 19p13.3 NA NA NA NA rs2302219 0.1 0.1 0.107 0.123403 0.0785 0.131 0.0893 0.1233 0.1861 0.08 0.1 0.09 0.13 0.0967 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734365 NA NA 0.081512 0.123241 NA 0.08 NA 3.743288 1278 10 5204676 5204676 A C ncRNA_intronic AKR1CL1 NA NA NA intronic ENSG00000196326 NA NA NA NA NA 10p15.1 NA NA NA NA rs7080497 0.41 0.41 0.404 0.399161 0.5905 0.1399 0.4568 0.4682 0.3354 0.59 0.13 0.46 0.43 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152101 NA NA NA NA NA 0.5 NA 3.7428333 1278 15 27222098 27222098 C G intronic GABRG3 NA NA NA intronic ENSG00000182256 NA NA NA NA NA 15q12 NA NA NA NA rs140671 0.11 0.11 0.123 0.129193 0.1362 0.2093 0.0793 0.0348 0.2025 0.14 0.16 0.08 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.743734 1.743734 NA 0.12109 0.054835 NA 0.051 NA 3.74271 1278 7 97617697 97617697 A G intronic OCM2 NA NA NA intronic ENSG00000135175 NA NA NA NA NA 7q21.3 NA NA NA NA rs12704956 0.07 0.07 0.079 0.101038 0.0825 0.003 0.0836 0.1679 0.1431 0.08 NA 0.09 0.13 0.0869 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148922 NA NA 0.088023 0.125511 NA 0.087 NA 3.742577 1278 1 152195579 152195579 G A intronic HRNR NA NA NA ncRNA_intronic ENSG00000237975 NA NA NA NA NA 1q21.3 NA NA NA NA rs74127901 0.3 0.3 0.27 0.330671 0.168 0.6091 0.415 0.0817 0.4877 0.17 0.62 0.35 0.09 0.2552 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.558449 1.558449 NA 0.167558 0.095552 NA 0.21 NA 3.7425753 1278 19 52383510 52383510 C T intronic ZNF577 NA NA NA intronic ENSG00000161551 NA NA NA NA NA 19q13.41 NA NA NA NA rs8110531 0.24 0.24 0.243 0.308706 0.1412 0.3046 0.2262 0.385 0.4407 0.13 0.3 0.25 0.33 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.51394 NA NA 0.116279 0.362717 NA 0.203 NA 3.742521 1278 9 116857234 116857234 G C intronic KIF12 NA NA NA intronic ENSG00000136883 NA NA NA NA NA 9q32 NA NA NA NA rs6478061 0.21 0.21 0.241 0.227236 0.2575 0.0377 0.1758 0.3601 0.2485 0.24 0.04 0.19 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281368 NA NA NA NA NA 0.326 NA 3.7425 1278 11 19078022 19078022 T C intronic MRGPRX2 NA NA NA intronic ENSG00000183695 NA NA NA NA NA 11p15.1 NA NA NA NA rs10833050 0.29 0.29 0.314 0.289736 0.2575 0.2639 0.2709 0.4259 0.1789 0.25 0.25 0.28 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.566362 NA NA NA NA NA 0.268 NA 3.7425 1278 11 101344177 101344177 G A intronic TRPC6 NA NA NA intronic ENSG00000137672 NA NA NA NA NA 11q22.1 NA NA NA NA rs12362848 0.27 0.27 0.295 0.298922 0.2575 0.0615 0.2061 0.5862 0.2638 0.28 0.06 0.22 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541756 NA NA NA NA NA 0.333 NA 3.7425 1278 16 539093 539093 G C intronic RAB11FIP3 NA NA NA intronic ENSG00000090565 NA NA NA NA NA 16p13.3 NA NA NA NA rs74390230 NA NA NA 0.159944 0.2575 0.0813 0.1441 0.0991 0.2342 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097095 NA NA NA NA NA NA NA 3.7425 1278 16 15917321 15917321 T C intronic MYH11 NA NA NA intronic ENSG00000133392 NA NA NA NA NA 16p13.11 NA NA NA NA rs2272552 0.27 0.27 0.259 0.232029 0.2575 0.255 0.1686 0.3018 0.1329 0.27 0.25 0.2 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247787 NA NA NA NA NA 0.246 NA 3.7425 1278 17 44795234 44795234 A G intronic NSF NA NA NA intronic ENSG00000073969 NA NA NA NA NA 17q21.31 NA NA NA NA rs142167 0.41 0.41 0.412 0.36222 0.2575 0.5873 0.4323 0.3986 0.1391 0.25 0.63 0.4 0.42 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.549853 NA NA NA NA NA 0.225 NA 3.7425 1278 18 29444811 29444811 A G intronic TRAPPC8 NA NA NA intronic ENSG00000153339 NA NA NA NA NA 18q12.1 NA NA NA NA rs2291239 0.28 0.28 0.254 0.310703 0.2575 0.506 0.1945 0.0915 0.5429 0.28 0.49 0.21 0.09 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.659974 1.659974 NA NA NA NA 0.225 NA 3.7425 1278 2 33482586 33482586 C T intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs11686962 0.1 0.1 0.105 0.112021 0.0755 0.0238 0.0548 0.2708 0.0665 0.07 0.03 0.06 0.24 0.0939 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10365 NA NA 0.08814 0.2399 NA 0.101 NA 3.74246 1278 6 39883802 39883802 A T intronic MOCS1 NA NA NA intronic ENSG00000124615 NA NA NA NA NA 6p21.2 NA NA NA NA rs34757428 0.06 0.06 0.057 0.0625 0.0805 0.0069 0.0432 0.0734 0.1002 0.09 0.0035 0.05 0.07 0.1158 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11449 NA NA 0.061395 0.064458 NA 0.014 NA 3.742305 1278 13 113729535 113729535 C T intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs3764120 0.1 0.1 0.082 0.0876597 0.0775 0.2431 0.0735 0.0061 0.0583 0.07 0.22 0.11 0.01 0.1044 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102603 NA NA 0.075843 0.016613 NA 0.036 NA 3.742257 1278 17 30791509 30791509 C G intronic PSMD11 NA NA NA intronic ENSG00000108671 NA NA NA NA NA 17q11.2 NA NA Name=6 NA rs2302277 0.25 0.25 0.177 0.224641 0.4702 0.0585 0.379 0.0265 0.3016 0.49 0.06 0.36 0.04 0.3625 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.205961 NA NA 0.425116 0.084657 ID=COSN165388;OCCURENCE=1(NS) 0.232 NA 3.742184 1278 1 203809380 203809380 G A intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs13375025 0.06 0.06 0.05 0.0549121 0.1252 0.002 0.0476 0.0265 0.0808 0.12 0.0035 0.08 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942354 NA NA 0.132621 0.04263 NA 0.029 NA 3.742179 1278 3 39554946 39554946 C T UTR3 MOBP NM_182935:c.*33C>T NA NA UTR3 ENSG00000168314 ENST00000383754:c.*33C>T,ENST00000447324:c.*33C>T,ENST00000415443:c.*33C>T,ENST00000420739:c.*107C>T,ENST00000311042:c.*72C>T,ENST00000452959:c.*33C>T,ENST00000396228:c.*33C>T,ENST00000424090:c.*107C>T,ENST00000442631:c.*72C>T NA NA NA NA 3p22.1 NA NA NA NA rs552724 0.21 0.21 0.208 0.195288 0.1998 0.2242 0.2089 0.2254 0.1104 0.2 0.19 0.2 0.25 0.1957 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409058 NA NA 0.195698 0.23241 NA 0.167 NA 3.7421354 1278 7 98556962 98556962 C T intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs41633 0.12 0.12 0.101 0.0888578 0.0835 0.2113 0.1369 0.0038 0.0491 0.09 0.24 0.14 0.01 0.0932 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.341518 1.341518 NA 0.081279 0.019519 NA 0.072 NA 3.742021 1278 1 91844815 91844815 T C intronic HFM1 NA NA NA intronic ENSG00000162669 NA NA NA NA NA 1p22.2 NA NA NA NA rs4658219 0.12 0.12 0.098 0.108626 0.0765 0.1657 0.134 0.1036 0.0716 0.09 0.13 0.17 0.1 0.1047 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048467 NA NA 0.076914 0.103076 NA 0.072 NA 3.741886 1278 10 43297564 43297564 G A intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA rs1539295 0.09 0.09 0.081 0.121605 0.0815 0.0258 0.1599 0.1899 0.1421 0.06 0.02 0.17 0.17 0.0991 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364213 NA NA 0.077558 0.174308 NA 0.072 NA 3.741842 1278 1 147230217 147230217 T C UTR3 GJA5 NM_005266:c.*53A>G,NM_181703:c.*53A>G NA NA ncRNA_UTR3 ENSG00000143140 NA NA NA NA NA 1q21.2 NA NA NA NA rs1692141 0.85 0.85 0.843 0.880391 0.7584 0.9018 0.8804 0.9017 0.955 0.76 0.93 0.89 0.89 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014277 NA NA NA NA NA 0.804 NA 3.7416 1278 1 159827475 159827475 G A intronic VSIG8 NA NA NA intronic ENSG00000243284 NA NA NA NA NA 1q23.2 NA NA NA NA rs11584200 0.35 0.35 0.376 0.358826 0.2584 0.38 0.3012 0.5166 0.2679 0.26 0.4 0.25 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144181 NA NA NA NA NA 0.268 NA 3.7416 1278 5 135383228 135383228 A G intronic TGFBI NA NA NA intronic ENSG00000120708 NA NA NA NA NA 5q31.1 NA NA NA NA rs764567 0.28 0.28 0.268 0.298123 0.2584 0.248 0.3329 0.3033 0.3589 0.27 0.26 0.3 0.3 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175618 NA NA NA NA NA 0.225 NA 3.7416 1278 9 26919607 26919607 T G intronic PLAA NA NA NA intronic ENSG00000137055 NA NA NA NA NA 9p21.2 NA NA NA NA rs10120342 0.22 0.22 0.22 0.224241 0.2584 0.1855 0.1902 0.2352 0.2382 0.25 0.16 0.23 0.22 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328494 NA NA NA NA NA 0.254 NA 3.7416 1278 9 99314012 99314012 C T intronic CDC14B NA NA NA intronic ENSG00000081377 NA NA NA NA NA 9q22.33 NA NA NA NA rs12004815 0.32 0.32 0.313 0.285144 0.2584 0.5605 0.3026 0.1762 0.1636 0.25 0.56 0.3 0.18 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.652216 2.652216 NA NA NA NA 0.312 NA 3.7416 1278 10 121663483 121663483 C T intronic SEC23IP NA NA NA intronic ENSG00000107651 NA NA NA NA NA 10q26.11 NA NA NA NA rs2475304 0.38 0.38 0.368 0.35024 0.2584 0.5536 0.3458 0.407 0.1616 0.26 0.57 0.31 0.4 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.936894 NA NA NA NA NA 0.275 NA 3.7416 1278 11 19078053 19078053 G A intronic MRGPRX2 NA NA NA intronic ENSG00000183695 NA NA NA NA NA 11p15.1 NA NA NA NA rs10766524 0.29 0.29 0.323 0.289537 0.2584 0.2639 0.2709 0.4251 0.1779 0.25 0.24 0.28 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356625 NA NA NA NA NA 0.268 NA 3.7416 1278 14 107183620 107183620 T A intergenic LINC00221,NONE dist=232091;dist=NONE NA NA ncRNA_exonic ENSG00000254056 NA NA NA NA NA 14q32.33 NA NA NA NA rs3213594 0.31 0.31 0.253 0.375 0.2584 0.2937 0.2839 0.4433 0.5511 0.25 0.31 0.3 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134538 NA NA NA NA NA 0.435 NA 3.7416 1278 15 78196530 78196530 C T intergenic LOC253044,LOC645752 dist=254949;dist=10029 NA NA ncRNA_intronic ENSG00000260139 NA NA NA NA NA 15q24.3 NA NA NA NA rs7179653 0.15 0.15 0.158 0.128195 0.2584 0.0516 0.111 0.1051 0.1166 0.27 0.06 0.12 0.12 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00029 NA NA NA NA NA 0.152 NA 3.7416 1278 17 3787593 3787593 G A intronic CAMKK1 NA NA NA intronic ENSG00000004660 NA NA NA NA NA 17p13.2 NA NA NA NA rs8082046 0.14 0.14 0.116 0.129593 0.2584 0.002 0.232 0.025 0.1973 0.27 NA 0.24 0.03 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080307 NA NA NA NA NA 0.232 NA 3.7416 1278 19 22647287 22647287 G T intergenic ZNF98,LOC440518 dist=42139;dist=131772 NA NA ncRNA_intronic ENSG00000269138 NA NA NA NA NA 19p12 NA NA NA NA rs1987409 0.26 0.26 0.222 0.296925 0.2584 0.2718 0.3199 0.2398 0.4233 0.25 0.23 0.31 0.25 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066903 NA NA NA NA NA 0.268 NA 3.7416 1278 19 54848589 54848589 C G intronic LILRA4 NA NA NA intronic ENSG00000239961 NA NA NA NA NA 19q13.42 NA NA NA NA rs113109589 0.16 0.16 0.112 0.163938 0.2584 0.1181 0.2032 0.0454 0.2464 0.24 0.1 0.22 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737517 NA NA NA NA NA 0.21 NA 3.7416 1278 20 40979430 40979430 C T intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs929071 0.43 0.43 0.394 0.42512 0.2584 0.8522 0.4697 0.2209 0.4008 0.26 0.84 0.41 0.2 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.933325 NA NA NA NA NA 0.42 NA 3.7416 1278 5 1344458 1344458 G A intronic CLPTM1L NA NA NA intronic ENSG00000049656 NA NA NA NA NA 5p15.33 NA NA Name=57 NA rs31490 0.37 0.37 0.374 0.336661 0.4414 0.1885 0.2939 0.4977 0.1943 0.46 0.16 0.33 0.52 0.3785 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504397 NA NA 0.43859 0.4798 NA 0.406 NA 3.74151 1278 15 50288858 50288858 T G intronic ATP8B4 NA NA NA intronic ENSG00000104043 NA NA NA NA NA 15q21.2 NA NA NA NA rs71469670 0.07 0.07 0.067 0.0794728 0.0825 NA 0.0634 0.118 0.1176 0.08 NA 0.05 0.14 0.0958 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.005019 2.005019 NA 0.080559 0.09795 NA 0.065 NA 3.741141 1278 4 108866058 108866058 G A intronic CYP2U1 NA NA NA ncRNA_intronic ENSG00000245293 NA NA NA NA NA 4q25 NA NA NA NA rs10002671 0.66 0.66 0.654 0.650559 0.5924 0.6815 0.621 0.7761 0.5297 0.58 0.7 0.63 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.047328 NA NA NA NA NA 0.507 NA 3.7409333 1278 10 70392137 70392137 A G intronic TET1 NA NA NA ncRNA_exonic ENSG00000213025 NA NA NA NA NA 10q21.3 NA NA NA NA rs11497985 0.49 0.49 0.458 0.461062 0.5924 0.5397 0.4035 0.2837 0.5256 0.59 0.52 0.47 0.33 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094658 NA NA NA NA NA 0.406 NA 3.7409333 1278 21 11040674 11040674 C T intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA NA NA rs622874 NA NA NA 0.56889 0.5924 0.5685 0.5793 0.5666 0.5409 NA NA NA NA NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818698 NA NA NA NA NA 0.746 NA 3.7409333 1278 3 37083740 37083740 A G intronic MLH1 NA NA NA intronic ENSG00000076242 NA NA NA NA NA 3p22.2 NA NA NA NA rs9876116 0.35 0.35 0.328 0.3123 0.4344 0.0754 0.379 0.4365 0.2157 0.44 0.09 0.43 0.44 0.3712 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392367 NA NA 0.453721 0.408265 NA 0.464 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified;CLNREVSTAT=exp|single;CLNACC=RCV000030215.2|RCV000078417.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.;CLNDSDBID=NBK1211:C0009405:315058005|. 3.740679 1278 1 150482738 150482738 G A intronic ECM1 NA NA NA intronic ENSG00000143369 NA NA NA NA NA 1q21.3 NA NA NA NA rs11205387 0.27 0.27 0.26 0.25 0.2594 0.2907 0.3098 0.1831 0.2464 0.26 0.32 0.36 0.18 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106363 NA NA NA NA NA 0.312 NA 3.7406 1278 3 14173963 14173963 G T intronic TMEM43 NA NA NA intronic ENSG00000170876 NA NA NA NA NA 3p25.1 NA NA NA NA rs4685074 0.45 0.45 0.421 0.45627 0.2594 0.6706 0.5029 0.4327 0.4366 0.26 0.65 0.49 0.47 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85774 NA NA NA NA NA 0.312 NA 3.7406 1278 5 178563125 178563125 A T intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs1549603 0.2 0.2 0.205 0.196486 0.2594 0.0992 0.2291 0.2481 0.1391 0.25 0.09 0.23 0.23 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413464 NA NA NA NA NA 0.203 NA 3.7406 1278 14 101396148 101396148 G A intergenic SNORD113-2,SNORD113-4 dist=2399;dist=6680 NA NA ncRNA_intronic ENSG00000258399 NA NA NA NA NA 14q32.2 NA NA NA NA rs35436326 0.12 0.12 0.11 0.0952476 0.2594 0.0119 0.1412 0.0121 0.092 0.25 0.01 0.17 0.01 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0175 NA NA NA NA NA 0.225 NA 3.7406 1278 17 79060180 79060180 C T intronic BAIAP2 NA NA NA intronic ENSG00000175866 NA NA NA NA NA 17q25.3 NA NA NA NA rs7210438 0.19 0.19 0.179 0.171526 0.2594 0.122 0.1354 0.2005 0.1186 0.26 0.13 0.15 0.19 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112547 NA NA NA NA NA 0.145 NA 3.7406 1278 10 13481530 13481530 T C intronic BEND7 NA NA NA intronic ENSG00000165626 NA NA NA NA NA 10p13 NA NA NA NA rs12573063 0.09 0.09 0.081 0.0976438 0.0815 0.0923 0.1153 0.0734 0.1401 0.08 0.09 0.12 0.07 0.0935 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751825 NA NA 0.084419 0.078529 NA 0.051 NA 3.740581 1278 7 148801658 148801658 C T exonic ZNF425 NA synonymous SNV ZNF425:NM_001001661:exon4:c.G1305A:p.Q435Q exonic ENSG00000204947 NA synonymous SNV ENSG00000204947:ENST00000378061:exon4:c.G1305A:p.Q435Q NA NA 7q36.1 NA NA NA NA rs1137432 0.61 0.61 0.571 0.603035 0.6183 0.9067 0.6643 0.1536 0.8384 0.64 0.91 0.64 0.2 0.6672 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013314 NA NA 0.640814 0.230595 NA 0.609 NA 3.7403526 1278 11 95519506 95519506 G A intronic FAM76B NA NA NA UTR5 ENSG00000077458 ENST00000537749:c.-150C>T NA NA NA NA 11q21 NA NA NA NA rs3748253 0.34 0.34 0.348 0.271366 0.4264 0.2976 0.2752 0.1997 0.1789 0.43 0.35 0.33 0.21 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042141 NA NA NA NA NA 0.319 NA 3.7402667 1278 7 35673870 35673870 C T intronic HERPUD2 NA NA NA intronic ENSG00000122557 NA NA NA NA NA 7p14.2 NA NA NA NA rs2305334 0.22 0.22 0.217 0.193291 0.1203 0.2708 0.1772 0.2776 0.0859 0.11 0.3 0.18 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669033 NA NA 0.139628 0.271689 NA 0.196 NA 3.740072 1278 11 49865926 49865926 C T intergenic LOC440040,OR4C13 dist=33957;dist=108017 NA NA intergenic ENSG00000219061,ENSG00000254714 dist=5054;dist=6255 NA NA Score=415;Name=lod=65 NA 11p11.12 NA NA NA NA rs10769623 0.5 0.5 0.485 0.479433 0.5934 0.5565 0.6311 0.2413 0.4969 0.59 0.55 0.64 0.18 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844921 NA NA NA NA NA 0.486 NA 3.7399334 1278 11 44639932 44639932 G A intronic CD82 NA NA NA intronic ENSG00000085117 NA NA NA NA NA 11p11.2 NA NA NA NA rs2303862 0.16 0.16 0.157 0.211262 0.0517 0.4881 0.0807 0.0605 0.3865 0.06 0.45 0.06 0.03 0.1538 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516217 NA NA 0.054864 0.051764 NA 0.116 NA 3.739636 1278 4 185350307 185350307 T C intronic IRF2 NA NA NA intronic ENSG00000168310 NA NA NA NA NA 4q35.1 NA NA NA NA rs807684 0.21 0.21 0.199 0.217053 0.2604 0.1161 0.3098 0.2549 0.1595 0.25 0.13 0.25 0.22 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3296 NA NA NA NA NA 0.188 NA 3.7396 1278 6 158515111 158515111 C T intronic SYNJ2 NA NA NA intronic ENSG00000078269 NA NA NA NA NA 6q25.3 NA NA NA NA rs13217929 0.11 0.11 0.092 0.1248 0.2604 0.0169 0.1599 0.0242 0.2076 0.23 0.01 0.17 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982354 NA NA NA NA NA 0.145 NA 3.7396 1278 7 31011485 31011485 A G intronic GHRHR NA NA NA intronic ENSG00000106128 NA NA NA NA NA 7p14.3 NA NA NA NA rs4988501 0.2 0.2 0.195 0.214856 0.2604 0.0337 0.2219 0.2663 0.2802 0.26 0.03 0.22 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587437 NA NA NA NA NA 0.167 NA 3.7396 1278 9 99015259 99015259 C T intronic HSD17B3 NA NA NA intronic ENSG00000130948 NA NA NA NA NA 9q22.32 NA NA NA NA rs2066475 0.2 0.2 0.214 0.184505 0.2604 0.0317 0.1455 0.3071 0.1258 0.26 0.04 0.15 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696314 NA NA NA NA NA 0.174 NA 3.7396 1278 12 85554331 85554331 C T intronic LRRIQ1 NA NA NA intronic ENSG00000133640 NA NA NA NA NA 12q21.31 NA NA NA NA rs2404773 0.21 0.21 0.167 0.20647 0.2604 0.2232 0.3127 0.0446 0.2771 0.26 0.22 0.3 0.05 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569371 NA NA NA NA ID=COSN164316;OCCURENCE=1(breast) 0.239 NA 3.7396 1278 19 14580638 14580638 T C intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA NA NA NA rs78858120 0.17 0.17 0.145 0.189497 0.0825 0.0794 0.1383 0.4735 0.0654 0.09 0.09 0.16 0.39 0.1094 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353682 NA NA 0.068548 0.398898 NA 0.188 NA 3.739552 1278 19 14580662 14580662 G A intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA NA NA NA rs74564226 0.17 0.17 0.151 0.184704 0.0835 0.0784 0.1398 0.4546 0.0654 0.09 0.09 0.15 0.39 0.1079 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.797069 NA NA 0.069425 0.372639 NA 0.181 NA 3.739175 1278 11 1774934 1774934 A G intronic CTSD,MOB2 NA NA NA intronic ENSG00000117984,ENSG00000250644 NA NA NA NA NA 11p15.5 NA NA NA NA rs112379600 0.08 0.08 0.07 0.0804712 0.0875 0.0367 0.0634 0.1006 0.1033 0.09 0.03 0.09 0.1 0.0837 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767345 NA NA 0.08983 0.106088 NA 0.065 NA 3.73897 1278 3 52874446 52874446 C T UTR3 TMEM110 NM_198563:c.*64G>A NA NA UTR3 ENSG00000213533 ENST00000355083:c.*64G>A NA NA NA NA 3p21.1 NA NA NA NA rs6769789 0.48 0.48 0.45 0.468251 0.5944 0.628 0.4352 0.2118 0.544 0.59 0.57 0.43 0.24 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332932 NA NA NA NA NA 0.486 NA 3.7389334 1278 16 30495657 30495657 T C intronic ITGAL NA NA NA ncRNA_intronic ENSG00000261346 NA NA NA NA NA 16p11.2 NA NA NA NA rs7197010 0.74 0.74 0.689 0.763179 0.5944 0.9921 0.7666 0.6808 0.8098 0.6 0.99 0.72 0.69 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.797721 NA NA NA NA NA 0.645 NA 3.7389333 1278 21 11047760 11047760 C A intronic BAGE2,BAGE3,BAGE4,BAGE5 NA NA NA ncRNA_intronic ENSG00000187172 NA NA NA NA NA 21p11.1 NA NA NA NA rs455348 NA NA NA 0.546725 0.5944 0.5238 0.5793 0.528 0.5235 NA NA NA NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.809211 NA NA NA NA NA 0.558 NA 3.7389333 1278 3 197411127 197411127 C T intronic KIAA0226 NA NA NA intronic ENSG00000145016 NA NA NA NA NA 3q29 NA NA NA NA rs12107435 0.09 0.09 0.088 0.0748802 0.0994 NA 0.0403 0.1528 0.046 0.1 NA 0.04 0.22 0.0747 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.832463 1.832463 NA 0.087208 0.162106 NA 0.138 NA 3.738692 1278 3 133494529 133494529 C A intronic TF NA NA NA intronic ENSG00000091513 NA NA NA NA NA 3q22.1 NA NA NA NA rs1880668 0.14 0.14 0.116 0.0972444 0.2614 0.0397 0.1527 0.0121 0.0634 0.25 0.05 0.19 0.02 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336239 NA NA NA NA NA 0.188 NA 3.7386 1278 3 179122918 179122918 T C intronic GNB4 NA NA NA intronic ENSG00000114450 NA NA NA NA NA 3q26.33 NA NA NA NA rs2287310 0.16 0.16 0.139 0.158946 0.2614 0.0764 0.2089 0.0719 0.2209 0.25 0.08 0.21 0.05 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694976 NA NA NA NA NA 0.138 NA 3.7386 1278 4 83197551 83197551 C T intergenic RASGEF1B,HNRNPD dist=804490;dist=76916 NA NA ncRNA_exonic ENSG00000234568 NA NA NA NA NA 4q21.22 NA NA NA NA rs13128457 0.29 0.29 0.255 0.227236 0.2614 0.6091 0.1297 0.0189 0.1493 0.28 0.63 0.15 0.03 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094948 NA 0 NA NA NA 0.145 NA 3.7386 1278 5 15927927 15927927 A G intronic FBXL7 NA NA NA intronic ENSG00000183580 NA NA NA NA NA 5p15.1 NA NA NA NA rs66504704 0.23 0.23 0.188 0.23762 0.2614 0.1726 0.2363 0.2322 0.2883 0.27 0.17 0.22 0.22 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833734 NA NA NA NA NA 0.174 NA 3.7386 1278 6 139610124 139610124 G T intronic TXLNB NA NA NA intronic ENSG00000164440 NA NA NA NA NA 6q24.1 NA NA NA NA rs55712380 0.21 0.21 0.2 0.225439 0.2614 0.1062 0.1859 0.2277 0.3364 0.26 0.12 0.23 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401093 NA NA NA NA NA 0.261 NA 3.7386 1278 9 35559369 35559369 G A intronic RUSC2 NA NA NA intronic ENSG00000198853 NA NA NA NA NA 9p13.3 NA NA NA NA rs4879906 0.22 0.22 0.179 0.172324 0.2614 0.2361 0.2767 0.0113 0.1585 0.27 0.25 0.32 0.01 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792647 NA NA NA NA NA 0.304 NA 3.7386 1278 10 99138792 99138792 T C intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs11189173 0.24 0.24 0.217 0.264377 0.2614 0.3125 0.2594 0.1415 0.3875 0.26 0.28 0.25 0.15 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557565 NA NA NA NA NA 0.138 NA 3.7386 1278 12 111742222 111742222 T C intronic CUX2 NA NA NA intronic ENSG00000111249 NA NA NA NA NA 12q24.12 NA NA NA NA rs1362006 0.58 0.58 0.61 0.612021 0.2614 0.8681 0.3242 0.8684 0.5665 0.25 0.89 0.39 0.85 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357412 NA NA NA NA NA 0.471 NA 3.7386 1278 15 84373370 84373370 G A intronic ADAMTSL3 NA NA NA intronic ENSG00000156218 NA NA NA NA NA 15q25.2 NA NA NA NA rs890309 0.17 0.17 0.142 0.147165 0.2614 0.0595 0.3703 0.0197 0.1339 0.26 0.07 0.35 0.03 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039346 NA NA NA NA NA 0.145 NA 3.7386 1278 19 43876942 43876942 C T intergenic CD177,TEX101 dist=9462;dist=15821 NA NA ncRNA_exonic ENSG00000204933 NA NA NA NA NA 19q13.31 NA NA NA NA rs72623900 0.3 0.3 0.278 0.299521 0.2614 0.5575 0.3357 0.0598 0.3712 0.27 0.54 0.29 0.08 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.85279 NA NA NA NA NA 0.333 NA 3.7386 1278 3 50416501 50416501 C T intronic CACNA2D2 NA NA NA intronic ENSG00000007402 NA NA NA NA NA 3p21.31 NA NA NA NA rs5030977 0.05 0.05 0.05 0.0323482 0.0934 NA 0.0418 0.0061 0.0317 0.1 NA 0.06 0.01 0.0741 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.332226 NA NA 0.09407 0.017249 NA 0.072 NA 3.73843 1278 7 55214443 55214443 G A intronic EGFR NA NA NA intronic ENSG00000146648 NA NA NA NA NA 7p11.2 NA NA NA NA rs7801956 0.05 0.05 0.051 0.0553115 0.0934 0.0466 0.0389 0.0091 0.0992 0.09 0.04 0.06 0.01 0.0768 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512111 NA NA 0.091512 0.021788 NA 0.109 NA 3.738288 1278 7 5528883 5528883 G A intronic FBXL18 NA NA NA UTR3 ENSG00000155034 ENST00000458142:c.*555C>T NA NA NA NA 7p22.1 NA NA Name=14 NA rs4724701 0.53 0.53 0.527 0.495807 0.507 0.7014 0.3775 0.4334 0.4407 0.51 0.71 0.37 0.48 0.4564 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75503 NA NA 0.465093 0.444635 NA 0.464 NA 3.7381737 1278 13 113729539 113729539 G A intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs3764119 0.1 0.1 0.095 0.0874601 0.0775 0.2431 0.0735 0.0061 0.0573 0.07 0.22 0.11 0.01 0.1038 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306347 NA NA 0.080573 0.017882 NA 0.036 NA 3.738127 1278 8 140630990 140630990 A G exonic KCNK9 NA synonymous SNV KCNK9:NM_016601:exon2:c.T636C:p.G212G exonic ENSG00000169427 NA synonymous SNV ENSG00000169427:ENST00000303015:exon2:c.T636C:p.G212G,ENSG00000169427:ENST00000520439:exon2:c.T636C:p.G212G,ENSG00000169427:ENST00000522317:exon2:c.T636C:p.G212G NA NA 8q24.3 NA NA NA NA rs2615374 0.73 0.73 0.717 0.723043 0.6431 0.6984 0.6571 0.8812 0.6636 0.65 0.72 0.68 0.89 0.6586 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.679633 NA NA 0.627093 0.840899 NA 0.732 NA 3.7378736 1278 1 186862419 186862419 A G intronic PLA2G4A NA NA NA intronic ENSG00000116711 NA NA NA NA NA 1q31.1 NA NA NA NA rs7519192 0.23 0.23 0.174 0.271166 0.2624 0.1409 0.4957 0.1747 0.3855 0.26 0.13 0.44 0.16 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699238 NA NA NA NA NA 0.297 NA 3.7376 1278 2 37406807 37406807 A G intronic SULT6B1 NA NA NA intronic ENSG00000138068 NA NA NA NA NA 2p22.2 NA NA NA NA rs2111630 0.42 0.42 0.397 0.425919 0.2624 0.7996 0.4207 0.2322 0.4744 0.28 0.79 0.38 0.21 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038204 NA NA NA NA NA 0.449 NA 3.7376 1278 2 174232076 174232076 G A intronic CDCA7 NA NA NA intronic ENSG00000144354 NA NA NA NA NA 2q31.1 NA NA NA NA rs3816061 0.34 0.34 0.354 0.370407 0.2624 0.3026 0.2594 0.531 0.4131 0.27 0.31 0.28 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016637 NA NA NA NA NA 0.384 NA 3.7376 1278 3 133485371 133485371 G C intronic TF NA NA NA intronic ENSG00000091513 NA NA NA NA NA 3q22.1 NA NA NA NA rs1525891 0.17 0.17 0.15 0.146166 0.2624 0.0714 0.1599 0.1067 0.1472 0.25 0.09 0.2 0.1 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199621 NA NA NA NA NA 0.225 NA 3.7376 1278 5 136320758 136320758 A G intronic SPOCK1 NA NA NA intronic ENSG00000152377 NA NA NA NA NA 5q31.2 NA NA NA NA rs17521219 0.14 0.14 0.086 0.108427 0.2624 0.0089 0.219 0.0091 0.1084 0.27 0.01 0.23 0.01 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077933 NA NA NA NA NA 0.152 NA 3.7376 1278 9 138440748 138440748 C T intronic OBP2A NA NA NA intronic ENSG00000122136 NA NA NA NA NA 9q34.3 NA NA NA NA rs3827840 0.17 0.17 0.136 0.156949 0.2624 0.1825 0.1354 0.0393 0.1963 0.26 0.18 0.17 0.05 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483705 NA NA NA NA NA 0.203 NA 3.7376 1278 16 20482751 20482751 A G intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs2271061 0.5 0.5 0.51 0.516773 0.2624 0.7758 0.2709 0.6641 0.4867 0.29 0.79 0.29 0.65 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742362 NA NA NA NA NA 0.558 NA 3.7376 1278 19 20500515 20500515 T C intergenic ZNF486,MIR1270-1 dist=189216;dist=9566 NA NA ncRNA_intronic ENSG00000231205 NA NA NA NA NA 19p12 NA NA NA NA rs2336457 0.22 0.22 0.197 0.211462 0.2624 0.1538 0.3012 0.2239 0.138 0.25 0.15 0.29 0.19 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502477 NA NA NA NA NA 0.268 NA 3.7376 1278 19 43877081 43877081 G T intergenic CD177,TEX101 dist=9601;dist=15682 NA NA ncRNA_exonic ENSG00000204933 NA NA NA NA NA 19q13.31 NA NA NA NA rs61525615 0.29 0.29 0.272 0.289936 0.2624 0.5575 0.3314 0.025 0.3712 0.27 0.54 0.28 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068722 NA 0.01 NA NA NA 0.326 NA 3.7376 1278 19 45766729 45766729 G A intronic MARK4 NA NA NA intronic ENSG00000007047 NA NA NA NA NA 19q13.32 NA NA NA NA rs7255933 0.12 0.12 0.108 0.124601 0.2624 0.001 0.121 0.0212 0.2526 0.26 NA 0.13 0.04 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456428 NA NA NA NA NA 0.232 NA 3.7376 1278 20 50290924 50290924 G C intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6091347 0.16 0.16 0.132 0.159944 0.2624 0.004 0.1844 0.1762 0.1759 0.25 0.0035 0.2 0.17 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404044 NA NA NA NA NA 0.094 NA 3.7376 1278 17 48165064 48165064 T C intronic ITGA3 NA NA NA intronic ENSG00000005884 NA NA NA NA NA 17q21.33 NA Name=Znf143_(16618-1-AP),GABP,SMC3_(ab9263),Pol2,YY1_(C-20),ELF1_(SC-631),Rad21,CTCF,CTCF_(SC-5916),Pol2-4H8,ZNF263,CTCF_(C-20),TCF12 Name=145 NA rs12951197 0.56 0.56 0.565 0.500599 0.8052 0.2688 0.536 0.3964 0.5419 0.82 0.31 0.61 0.4 0.6647 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177062 NA NA 0.792674 0.429187 NA 0.572 NA 3.737426 1278 10 129899482 129899482 T A intronic MKI67 NA NA NA intronic ENSG00000148773 NA NA NA NA NA 10q26.2 NA NA NA NA rs41282876 0.04 0.04 0.035 0.0397364 0.0944 NA 0.0648 0.0008 0.0593 0.09 0.0017 0.06 0.0041 0.0696 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785706 NA NA 0.098605 0.019065 NA 0.051 NA 3.737395 1278 1 109444370 109444370 A T intronic GPSM2 NA NA NA intronic ENSG00000121957,ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs2270536 0.07 0.07 0.069 0.0706869 0.0825 0.0129 0.0476 0.1082 0.0838 0.09 0.01 0.06 0.1 0.0848 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.091378 2.091378 NA 0.095371 0.117794 NA 0.043 NA 3.737329 1278 5 52368565 52368565 A T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3212585 0.07 0.07 0.075 0.0670927 0.0885 0.0188 0.0533 0.1044 0.0542 0.09 0.01 0.05 0.13 0.0803 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.296876 1.296876 NA 0.093881 0.094417 NA 0.08 NA 3.737319 1278 13 111111043 111111043 G A intronic COL4A2 NA NA NA ncRNA_intronic ENSG00000224821 NA NA NA NA NA 13q34 NA NA NA NA rs9521782 0.5 0.5 0.505 0.490216 0.5964 0.2232 0.4928 0.6475 0.4417 0.59 0.2 0.55 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.867668 NA NA NA NA NA 0.543 NA 3.7369333 1278 11 119181674 119181674 G C intronic MCAM NA NA NA UTR3 ENSG00000076706 ENST00000392814:c.*34C>G NA NA NA NA 11q23.3 NA NA Name=4 NA rs2510146 0.74 0.74 0.756 0.801118 0.6859 0.6498 0.7853 0.9864 0.8364 0.67 0.64 0.75 0.97 0.744 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697114 NA NA NA NA NA 0.732 NA 3.7367667 1278 9 108467850 108467850 C G intronic TMEM38B NA NA NA intronic ENSG00000095209 NA NA NA NA NA 9q31.2 NA NA NA NA rs2271246 0.19 0.19 0.173 0.185903 0.0805 0.4405 0.2003 0.1067 0.1288 0.08 0.42 0.18 0.1 0.1163 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165495 NA NA 0.066512 0.1069 NA 0.145 NA 3.736688 1278 1 177906292 177906292 C T intronic SEC16B NA NA NA intronic ENSG00000120341,ENSG00000254154 NA NA NA NA NA 1q25.2 NA NA NA NA rs61816275 0.2 0.2 0.199 0.194489 0.2634 0.1716 0.2349 0.1014 0.2444 0.26 0.2 0.23 0.1 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.745644 1.745644 NA NA NA NA 0.283 NA 3.7366 1278 1 226019371 226019371 G T intronic EPHX1 NA NA NA intronic ENSG00000143819 NA NA NA NA NA 1q42.12 NA NA NA NA rs3817268 0.24 0.24 0.232 0.223642 0.2634 0.1915 0.2363 0.2277 0.2014 0.26 0.24 0.22 0.22 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085345 NA NA NA NA NA 0.152 NA 3.7366 1278 4 20535502 20535502 T C intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA NA NA rs1092406 0.22 0.22 0.192 0.215655 0.2634 0.0357 0.1931 0.3442 0.1943 0.26 0.03 0.22 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.84053 NA NA NA NA NA 0.21 NA 3.7366 1278 5 178208021 178208021 C T intergenic AACSP1,ZNF354B dist=4744;dist=78933 NA NA ncRNA_intronic ENSG00000250420 NA NA NA NA NA 5q35.3 NA NA NA NA rs34178145 NA NA 0.143 0.1252 0.2634 0.121 0.1268 0.0227 0.1247 NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729088 NA NA NA NA NA 0.109 NA 3.7366 1278 9 119903827 119903827 A G intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs13291457 0.18 0.18 0.15 0.162939 0.2634 0.1726 0.2017 0.0439 0.183 0.25 0.18 0.22 0.04 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247998 NA NA NA NA NA 0.072 NA 3.7366 1278 10 11330576 11330576 C T intronic CELF2 NA NA NA intronic ENSG00000048740 NA NA NA NA NA 10p14 NA NA NA NA rs2277216 0.38 0.38 0.38 0.395567 0.2634 0.5159 0.3084 0.4758 0.3609 0.26 0.52 0.34 0.45 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223287 NA NA NA NA NA 0.225 NA 3.7366 1278 20 50305755 50305755 G A intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6067898 0.17 0.17 0.156 0.16893 0.2634 0.004 0.1888 0.2345 0.1391 0.25 0.0035 0.2 0.23 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250908 NA NA NA NA NA 0.094 NA 3.7366 1278 20 50305761 50305761 G A intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6067899 0.17 0.17 0.159 0.16893 0.2634 0.004 0.1888 0.2345 0.1391 0.25 0.0035 0.2 0.23 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042145 NA NA NA NA NA 0.094 NA 3.7366 1278 21 15311698 15311698 G T intergenic C21orf15,ANKRD20A11P dist=91013;dist=4398 NA NA ncRNA_exonic ENSG00000215559 NA NA NA NA NA 21q11.2 NA NA NA NA rs440492 NA NA NA 0.335064 0.2634 0.4008 0.3069 0.2799 0.4356 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272702 NA NA NA NA NA NA NA 3.7366 1278 8 27255003 27255003 G A intronic PTK2B NA NA NA UTR5 ENSG00000120899 ENST00000517339:c.-99G>A NA NA NA NA 8p21.2 NA NA NA NA rs28496151 0.33 0.33 0.312 0.311502 0.4304 0.2748 0.3818 0.1823 0.3517 0.44 0.27 0.38 0.2 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146112 NA NA NA NA NA 0.297 NA 3.7362667 1278 11 47814280 47814280 A G intronic NUP160 NA NA NA UTR3 ENSG00000030066 ENST00000528071:c.*52T>C NA NA NA NA 11p11.2 NA NA NA NA rs754434 0.32 0.32 0.31 0.345447 0.4304 0.4355 0.3199 0.084 0.5368 0.43 0.35 0.34 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63544 NA NA NA NA NA 0.304 NA 3.7362667 1278 13 111111023 111111023 T C intronic COL4A2 NA NA NA ncRNA_intronic ENSG00000224821 NA NA NA NA NA 13q34 NA NA NA NA rs9521781 0.5 0.5 0.499 0.491014 0.5974 0.2232 0.4957 0.6483 0.4417 0.6 0.2 0.56 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658566 NA NA NA NA NA 0.543 NA 3.7359333 1278 15 92824868 92824868 T C intergenic SLCO3A1,ST8SIA2 dist=109203;dist=112272 NA NA ncRNA_exonic ENSG00000258726 NA NA NA NA NA 15q26.1 NA NA NA NA rs10520708 0.27 0.27 0.233 0.224641 0.2644 0.3929 0.3588 0.0575 0.1411 0.25 0.4 0.34 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410951 NA NA NA NA ID=COSN165050;OCCURENCE=1(breast) 0.116 NA 3.7356 1278 4 56840846 56840846 A G intronic CEP135 NA NA NA intronic ENSG00000174799 NA NA NA NA NA 4q12 NA NA NA NA rs2290014 0.18 0.18 0.196 0.159944 0.2644 0.0873 0.1239 0.1778 0.1288 0.27 0.1 0.12 0.16 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201674 NA NA NA NA NA 0.159 NA 3.7356 1278 16 20482623 20482623 G T intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs2271060 0.5 0.5 0.525 0.517173 0.2644 0.7758 0.2709 0.671 0.4775 0.28 0.79 0.28 0.66 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892685 NA NA NA NA NA 0.601 NA 3.7356 1278 17 40452675 40452675 C A intronic STAT5A NA NA NA intronic ENSG00000126561 NA NA NA NA NA 17q21.2 NA NA NA NA rs2293157 0.39 0.39 0.392 0.441094 0.2644 0.3641 0.1772 0.7708 0.4438 0.27 0.35 0.2 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877721 NA NA NA NA NA 0.406 NA 3.7356 1278 16 84493080 84493080 A G intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs3743655 0.22 0.22 0.171 0.188698 0.3231 0.2639 0.2205 0.0461 0.1431 0.32 0.23 0.25 0.05 0.2747 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132469 NA NA NA NA NA 0.254 NA 3.7355333 1278 8 101648271 101648271 G A intronic SNX31 NA NA NA intronic ENSG00000174226 NA NA NA NA NA 8q22.3 NA NA NA NA rs2155882 0.1 0.1 0.122 0.117612 0.0765 0.006 0.0778 0.2897 0.0706 0.08 0.01 0.09 0.26 0.0944 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550449 NA NA 0.093953 0.243078 NA 0.123 NA 3.735147 1279 15 90346861 90346861 C T intronic ANPEP NA NA NA exonic ENSG00000166825 NA nonsynonymous SNV ENSG00000166825:ENST00000560030:exon2:c.G242A:p.R81H NA NA 15q26.1 NA NA NA NA rs2305443 0.49 0.49 0.506 0.455671 0.4781 0.5109 0.4121 0.4682 0.3896 0.5 0.55 0.44 0.44 0.4594 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168381 NA NA 0.494185 0.476818 NA 0.514 NA 3.7349817 1279 12 3321090 3321090 G A intronic TSPAN9 NA NA NA ncRNA_exonic ENSG00000227081 NA NA NA NA NA 12p13.32 NA NA NA NA rs61907326 0.47 0.47 0.372 0.437899 0.5984 0.4315 0.6182 0.1831 0.4959 0.59 0.44 0.64 0.2 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463875 NA NA NA NA NA 0.522 NA 3.7349333 1279 12 104496724 104496724 C T intronic HCFC2 NA NA NA intronic ENSG00000111727 NA NA NA NA NA 12q23.3 NA NA NA NA rs35223676 0.15 0.15 NA 0.150559 0.1282 0.1756 0.0951 0.1505 0.1871 0.13 0.18 0.12 0.16 0.1371 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251193 NA NA NA NA NA 0.116 NA 3.7347 1279 19 10271141 10271141 A C intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs11672909 0.19 0.19 0.166 0.199681 0.0676 0.375 0.1844 0.1483 0.2352 0.06 0.4 0.17 0.14 0.1325 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785976 NA NA 0.065233 0.127553 ID=COSN165719;OCCURENCE=1(breast) 0.196 NA 3.734667 1279 7 25268094 25268094 C T UTR5 NPVF NM_022150:c.-36G>A NA NA UTR5 ENSG00000105954 ENST00000222674:c.-36G>A NA NA NA NA 7p15.3 NA NA NA NA rs877835 0.27 0.27 0.244 0.257987 0.1849 0.5129 0.2608 0.1309 0.2403 0.19 0.51 0.25 0.13 0.2326 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.481863 NA NA 0.181183 0.147246 NA 0.283 NA 3.7346504 1279 2 10928710 10928710 A C intronic PDIA6 NA NA NA intronic ENSG00000143870 NA NA NA NA NA 2p25.1 NA NA NA NA rs1734433 0.27 0.27 0.217 0.285144 0.2654 0.3948 0.3386 0.1203 0.3773 0.27 0.35 0.36 0.13 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141078 NA NA NA NA NA NA NA 3.7346 1279 2 70033711 70033711 G C intronic ANXA4 NA NA NA intronic ENSG00000196975 NA NA NA NA NA 2p13.3 NA NA NA NA rs3771539 0.34 0.34 0.308 0.373003 0.2654 0.494 0.5058 0.2943 0.3712 0.26 0.46 0.44 0.28 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787231 NA NA NA NA NA 0.319 NA 3.7346 1279 4 72413281 72413281 T C intronic SLC4A4 NA NA NA intronic ENSG00000080493 NA NA NA NA NA 4q13.3 NA NA NA NA rs2278893 0.26 0.26 0.255 0.252796 0.2654 0.4177 0.2003 0.1384 0.2618 0.26 0.43 0.18 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.928093 1.928093 NA NA NA NA 0.174 NA 3.7346 1279 5 98210690 98210690 A C intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q21.1 NA NA NA NA rs7718898 0.3 0.3 0.266 0.340655 0.2654 0.3264 0.2723 0.348 0.4714 0.27 0.29 0.31 0.32 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.706078 1.706078 NA NA NA NA 0.326 NA 3.7346 1279 5 145512390 145512390 G C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs35869904 0.2 0.2 0.129 0.188099 0.2654 0.2063 0.3919 0.0083 0.1881 0.25 0.2 0.3 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064072 NA NA NA NA NA 0.087 NA 3.7346 1279 10 15029315 15029315 A C intergenic MEIG1,OLAH dist=14465;dist=56580 NA NA ncRNA_exonic ENSG00000235623 NA NA NA NA NA 10p13 NA NA NA NA rs11259420 0.27 0.27 0.229 0.305911 0.2654 0.3016 0.2622 0.326 0.3558 0.24 0.27 0.25 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458496 NA NA NA NA NA 0.145 NA 3.7346 1279 11 116628401 116628401 T C intronic BUD13 NA NA NA intronic ENSG00000137656 NA NA NA NA NA 11q23.3 NA NA NA NA rs2075295 0.34 0.34 0.307 0.370807 0.2654 0.3849 0.438 0.3366 0.4632 0.25 0.42 0.4 0.33 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891608 NA NA NA NA NA 0.29 NA 3.7346 1279 19 20874651 20874651 T C intergenic ZNF626,ZNF85 dist=30249;dist=231408 NA NA ncRNA_exonic ENSG00000269779 NA NA NA NA NA 19p12 NA NA NA NA rs6511151 0.27 0.27 0.244 0.269968 0.2654 0.3601 0.366 0.1815 0.2331 0.25 0.36 0.32 0.18 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179272 NA NA NA NA NA 0.254 NA 3.7346 1279 19 20874738 20874738 C G intergenic ZNF626,ZNF85 dist=30336;dist=231321 NA NA ncRNA_exonic ENSG00000269779 NA NA NA NA NA 19p12 NA NA NA NA rs6511152 0.27 0.27 0.235 0.269768 0.2654 0.3601 0.366 0.1815 0.2321 0.25 0.36 0.32 0.18 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652178 NA NA NA NA NA 0.232 NA 3.7346 1279 19 7734814 7734814 C T intronic RETN NA NA NA intronic ENSG00000104918 NA NA NA NA NA 19p13.2 NA NA NA NA rs34788323 0.07 0.07 0.063 0.0952476 0.0865 0.0069 0.0634 0.09 0.2249 0.08 0.01 0.09 0.09 0.0929 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159098 NA NA 0.086512 0.078529 NA 0.123 NA 3.734088 1279 1 32203218 32203218 C A intronic BAI2 NA NA NA intronic ENSG00000121753 NA NA NA NA NA 1p35.2 NA NA NA NA rs2271932 0.08 0.08 0.037 0.0726837 0.0716 0.0794 0.1542 0.0204 0.0798 0.08 0.08 0.15 0.02 0.1035 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.340294 NA NA 0.090835 0.030413 NA 0.072 NA 3.734065 1279 19 41283365 41283365 C G ncRNA_UTR3 MIA NA NA NA UTR3 ENSG00000261857 ENST00000594436:c.*40C>G,ENST00000263369:c.*40C>G,ENST00000597140:c.*93C>G,ENST00000601159:c.*119C>G NA NA NA NA 19q13.2 NA Name=POU2F2,TAF1,PU.1,SP1,Pol2,Oct-2,RFX5_(N-494),BCL3,NFKB,IRF3,ZBTB7A_(SC-34508),TBP Name=148 NA rs2233159 0.85 0.85 0.842 0.858427 0.9274 0.7927 0.9308 0.7549 0.9438 0.93 0.76 0.91 0.76 0.9067 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422318 1.422318 NA 0.931977 0.790286 NA 0.884 NA 3.733923 1279 5 149151707 149151707 G A intronic PPARGC1B NA NA NA intronic ENSG00000155846 NA NA NA NA NA 5q32 NA NA NA NA rs73796250 0.07 0.07 0.067 0.0922524 0.0676 0.0873 0.0403 0.0719 0.1871 0.07 0.08 0.05 0.07 0.122 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899231 NA NA 0.076595 0.069064 NA 0.043 NA 3.733805 1279 1 159858290 159858290 T A intronic CCDC19 NA NA NA intronic ENSG00000213085 NA NA NA NA NA 1q23.2 NA NA NA NA rs3795334 0.14 0.14 0.141 0.139776 0.0835 0.0556 0.085 0.3321 0.0634 0.09 0.09 0.08 0.33 0.0948 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181564 NA NA 0.087907 0.300272 NA 0.246 NA 3.733793 1279 19 33106621 33106621 C T exonic ANKRD27 NA synonymous SNV ANKRD27:NM_032139:exon22:c.G2118A:p.A706A exonic ENSG00000105186 NA synonymous SNV ENSG00000105186:ENST00000306065:exon22:c.G2118A:p.A706A NA NA 19q13.11 NA NA NA NA rs405858 0.5 0.5 0.494 0.480831 0.662 0.3175 0.4755 0.4365 0.5266 0.66 0.32 0.54 0.41 0.589 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190791 NA NA 0.681977 0.470268 NA 0.565 NA 3.7336896 1279 5 56817523 56817523 G A intergenic ACTBL2,PLK2 dist=38887;dist=932287 NA NA ncRNA_intronic ENSG00000250961 NA NA NA NA NA 5q11.2 NA NA NA NA rs1820124 0.25 0.25 0.265 0.25 0.2664 0.124 0.317 0.3616 0.1646 0.27 0.12 0.31 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035168 NA NA NA NA NA 0.29 NA 3.7336 1279 7 129906915 129906915 G A intronic CPA2 NA NA NA intronic ENSG00000158516 NA NA NA NA NA 7q32.2 NA NA NA NA rs7788519 0.13 0.13 0.116 0.0930511 0.2664 0.0139 0.1686 0.0098 0.0552 0.28 0.01 0.17 0.02 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067577 NA NA NA NA NA 0.167 NA 3.7336 1279 12 64879903 64879903 A G intronic TBK1 NA NA NA intronic ENSG00000183735 NA NA NA NA NA 12q14.2 NA NA NA NA rs7487627 0.36 0.36 0.343 0.386581 0.2664 0.5853 0.3775 0.3608 0.3466 0.26 0.53 0.34 0.33 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.784945 1.784945 NA NA NA NA 0.283 NA 3.7336 1279 15 31746320 31746320 T C intergenic KLF13,OTUD7A dist=76218;dist=29009 NA NA ncRNA_exonic ENSG00000259696 NA NA NA NA NA 15q13.3 NA NA NA NA rs12102124 0.32 0.32 0.247 0.406749 0.2664 0.2232 0.3545 0.6702 0.4213 0.24 0.18 0.33 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40777 NA NA NA NA NA 0.283 NA 3.7336 1279 15 92824927 92824927 G C intergenic SLCO3A1,ST8SIA2 dist=109262;dist=112213 NA NA ncRNA_exonic ENSG00000258726 NA NA NA NA NA 15q26.1 NA NA NA NA rs11074058 0.2 0.2 0.187 0.18111 0.2664 0.1161 0.2262 0.1793 0.1309 0.25 0.13 0.23 0.18 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826044 NA NA NA NA ID=COSN165051;OCCURENCE=1(breast) 0.116 NA 3.7336 1279 20 264498 264498 A C intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA NA NA rs6137055 0.24 0.24 0.213 0.194489 0.2664 0.3502 0.1988 0.0257 0.1851 0.29 0.38 0.2 0.02 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084392 NA NA NA NA NA 0.152 NA 3.7336 1279 11 60689445 60689445 T C exonic TMEM109 NA synonymous SNV TMEM109:NM_024092:exon4:c.T540C:p.P180P exonic ENSG00000110108 NA synonymous SNV ENSG00000110108:ENST00000536171:exon3:c.T540C:p.P180P,ENSG00000110108:ENST00000227525:exon4:c.T540C:p.P180P,ENSG00000110108:ENST00000540407:exon4:c.T306C:p.P102P NA NA 11q12.2 NA NA NA NA rs555835 0.69 0.69 0.678 0.740815 0.6103 0.9534 0.7363 0.5756 0.8824 0.6 0.93 0.69 0.56 0.6908 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.708233 NA NA 0.632589 0.562869 NA 0.659 NA 3.7329776 1279 1 227172935 227172935 C G intronic ADCK3 NA NA NA intronic ENSG00000163050 NA NA NA NA NA 1q42.13 NA NA Name=4 NA rs2297416 0.29 0.29 0.306 0.265176 0.4414 0.1577 0.2839 0.2572 0.1922 0.44 0.15 0.31 0.23 0.3631 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062095 NA NA 0.462558 0.273718 NA 0.355 NA 3.732942 1279 11 89486848 89486848 C G intergenic TRIM77,TRIM49 dist=35808;dist=43975 NA NA ncRNA_exonic ENSG00000234376 NA NA NA NA NA 11q14.3 NA NA NA NA rs11018769 NA NA 0.115 NA NA NA NA NA NA NA NA NA NA 0.1516 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796429 NA 0.01 0.115564 0.033758 NA 0.051 NA 3.732836 1279 1 109445706 109445706 T G intronic GPSM2 NA NA NA intronic ENSG00000121957,ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs9662782 0.07 0.07 0.059 0.0708866 0.0835 0.0129 0.0476 0.1082 0.0838 0.09 0.01 0.06 0.1 0.0882 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.960815 2.960815 NA 0.095465 0.117113 NA 0.043 NA 3.732835 1279 2 233422390 233422390 G A intronic EIF4E2 NA NA NA intronic ENSG00000135930 NA NA NA NA NA 2q37.1 NA NA NA NA rs1190439 0.33 0.33 0.317 0.326278 0.2674 0.2847 0.4222 0.4138 0.2434 0.26 0.3 0.41 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64949 NA NA NA NA NA 0.319 NA 3.7326 1279 4 74363282 74363282 T C intronic AFM NA NA NA intronic ENSG00000079557 NA NA NA NA NA 4q13.3 NA NA NA NA rs1158101 0.26 0.26 0.23 0.255591 0.2674 0.3234 0.3646 0.1074 0.2965 0.27 0.34 0.33 0.1 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257722 NA NA NA NA NA 0.304 NA 3.7326 1279 10 72306967 72306967 C T intronic PALD1 NA NA NA intronic ENSG00000107719 NA NA NA NA NA 10q22.1 NA NA NA NA rs3824764 0.32 0.32 0.28 0.288339 0.2674 0.2877 0.2882 0.3858 0.1789 0.28 0.33 0.27 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.901319 NA NA NA NA NA 0.21 NA 3.7326 1279 10 72306978 72306978 C A intronic PALD1 NA NA NA intronic ENSG00000107719 NA NA NA NA NA 10q22.1 NA NA NA NA rs3824763 0.32 0.32 0.274 0.288339 0.2674 0.2877 0.2882 0.3858 0.1789 0.28 0.33 0.27 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190614 NA NA NA NA NA 0.203 NA 3.7326 1279 17 27835211 27835211 A C intronic TAOK1 NA NA NA intronic ENSG00000160551 NA NA NA NA NA 17q11.2 NA NA NA NA rs622096 0.16 0.16 0.127 0.130192 0.2674 0.0238 0.2709 0.0151 0.1544 0.29 0.03 0.27 0.03 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732837 NA NA NA NA NA 0.051 NA 3.7326 1279 19 45769386 45769386 G C intronic MARK4 NA NA NA intronic ENSG00000007047 NA NA NA NA NA 19q13.32 NA NA NA NA rs2240671 0.19 0.19 0.181 0.169329 0.2674 0.1012 0.1571 0.171 0.1452 0.28 0.1 0.2 0.14 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.797975 NA NA NA NA NA 0.123 NA 3.7326 1279 8 133961011 133961011 T C intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs4736614 0.06 0.06 0.053 0.071885 0.0805 0.0407 0.0965 0.0265 0.1391 0.07 0.03 0.11 0.04 0.0849 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351838 NA NA 0.102558 0.029732 NA 0.043 NA 3.732042 1279 19 54755978 54755978 C G intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs45600235 0.08 0.08 0.049 0.0698882 0.0875 0.0843 0.1614 0.0303 0.0256 0.09 0.09 0.12 0.04 0.0894 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910106 NA NA 0.091395 0.02837 NA 0.051 NA 3.731705 1279 15 65054533 65054533 C T intronic RBPMS2 NA NA NA intronic ENSG00000166831 NA NA NA NA NA 15q22.31 NA NA NA NA rs72744744 0.17 0.17 0.136 0.164137 0.2684 0.0774 0.3703 0.0204 0.1943 0.26 0.09 0.33 0.02 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159849 NA NA NA NA NA 0.145 NA 3.7316 1279 17 61901880 61901880 G C intronic FTSJ3 NA NA NA intronic ENSG00000108592 NA NA NA NA NA 17q23.3 NA NA NA NA rs752621 0.2 0.2 0.187 0.183107 0.2684 0.0506 0.196 0.236 0.1513 0.27 0.05 0.19 0.26 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.459661 NA NA NA NA ID=COSN165498;OCCURENCE=1(breast) 0.159 NA 3.7316 1279 6 143074700 143074700 T C exonic HIVEP2 NA synonymous SNV HIVEP2:NM_006734:exon10:c.A6885G:p.P2295P exonic ENSG00000010818 NA synonymous SNV ENSG00000010818:ENST00000012134:exon8:c.A6885G:p.P2295P,ENSG00000010818:ENST00000367604:exon9:c.A6885G:p.P2295P,ENSG00000010818:ENST00000367603:exon10:c.A6885G:p.P2295P NA NA 6q24.2 NA NA NA NA rs169098 0.75 0.75 0.748 0.769968 0.6074 0.8313 0.7176 0.8669 0.7802 0.62 0.84 0.7 0.87 0.6891 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.028333 NA NA 0.638697 0.832593 NA 0.732 NA 3.7314696 1279 14 93685097 93685097 C T intronic UBR7 NA NA NA intronic ENSG00000012963 NA NA NA NA NA 14q32.12 NA NA NA NA rs17128941 0.1 0.1 0.107 0.113219 0.0805 0.1002 0.1196 0.1437 0.1145 0.08 0.09 0.1 0.14 0.1043 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570553 NA NA 0.084186 0.144868 NA 0.174 NA 3.731014 1279 1 156246792 156246792 C T intronic SMG5 NA NA NA intronic ENSG00000198952 NA NA NA NA NA 1q22 NA NA NA NA rs2277870 0.21 0.21 0.198 0.205871 0.2694 0.2272 0.2781 0.0908 0.2229 0.27 0.24 0.23 0.09 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441494 1.441494 NA NA NA NA 0.21 NA 3.7306 1279 7 38500782 38500782 G A intronic AMPH NA NA NA intronic ENSG00000078053 NA NA NA NA NA 7p14.1 NA NA NA NA rs12670885 0.33 0.33 0.302 0.370807 0.2694 0.5784 0.4294 0.1634 0.5 0.26 0.54 0.4 0.16 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618302 NA NA NA NA NA 0.239 NA 3.7306 1279 11 76795839 76795839 A G intronic CAPN5 NA NA NA intronic ENSG00000149260 NA NA NA NA NA 11q13.5 NA NA NA NA rs12362168 0.41 0.41 0.391 0.414736 0.2694 0.5317 0.2968 0.525 0.3783 0.27 0.51 0.33 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114169 NA NA NA NA NA 0.399 NA 3.7306 1279 19 51957677 51957677 C T intronic SIGLEC8 NA NA NA intronic ENSG00000105366 NA NA NA NA NA 19q13.41 NA NA NA NA rs10408249 0.33 0.33 0.33 0.325479 0.2694 0.2341 0.2478 0.5454 0.2352 0.29 0.24 0.29 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570234 NA NA NA NA NA 0.341 NA 3.7306 1279 7 148312520 148312520 T C UTR3 C7orf33 NM_145304:c.*27T>C NA NA UTR3 ENSG00000170279 ENST00000307003:c.*27T>C NA NA NA NA 7q36.1 NA Name=TCF4 NA NA rs6962292 0.58 0.58 0.573 0.608626 0.5189 0.5813 0.598 0.6573 0.6708 0.54 0.59 0.59 0.65 0.5663 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135532 NA NA 0.517674 0.652292 NA 0.536 NA 3.7304594 1279 14 55255673 55255673 C T UTR3 SAMD4A NM_001161576:c.*11C>T,NM_015589:c.*11C>T,NM_001161577:c.*11C>T NA NA UTR3 ENSG00000020577 ENST00000554335:c.*11C>T,ENST00000251091:c.*11C>T,ENST00000392067:c.*11C>T,ENST00000357634:c.*11C>T,ENST00000555192:c.*11C>T NA NA Score=417;Name=lod=66 NA 14q22.2 NA NA NA NA rs11431 0.59 0.59 0.623 0.576078 0.5179 0.6528 0.5029 0.7148 0.4213 0.53 0.63 0.52 0.71 0.5314 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.373493 4.373493 NA 0.553605 0.699047 NA 0.725 NA 3.7304284 1279 8 27667793 27667793 C T UTR3 PBK NM_018492:c.*29G>A NA NA UTR3 ENSG00000168078 ENST00000301905:c.*29G>A,ENST00000522944:c.*29G>A NA NA NA NA 8p21.1 NA NA NA NA rs1052873 0.12 0.12 0.104 0.105831 0.2197 0.0069 0.2291 0.0098 0.1329 0.22 0.01 0.23 0.02 0.1764 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049046 NA NA 0.20686 0.04335 NA 0.13 NA 3.7303734 1279 16 1395420 1395420 C T intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA NA NA NA rs112377811 0.06 0.06 0.071 0.0603035 0.0964 0.006 0.0548 0.0756 0.0624 0.1 NA 0.06 0.07 0.0926 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317947 NA NA 0.080993 0.065559 NA 0.101 NA 3.730007 1279 1 92262874 92262874 T C exonic TGFBR3 NA synonymous SNV TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195684:exon4:c.A216G:p.A72A exonic ENSG00000069702 NA synonymous SNV ENSG00000069702:ENST00000525962:exon2:c.A216G:p.A72A,ENSG00000069702:ENST00000533089:exon2:c.A216G:p.A72A,ENSG00000069702:ENST00000212355:exon3:c.A216G:p.A72A,ENSG00000069702:ENST00000465892:exon3:c.A216G:p.A72A,ENSG00000069702:ENST00000370399:exon4:c.A216G:p.A72A NA NA 1p22.1 NA NA NA NA rs2810904 0.72 0.72 0.712 0.715256 0.6322 0.7748 0.7176 0.7761 0.6554 0.65 0.79 0.7 0.78 0.6631 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72187 NA NA 0.641628 0.750794 NA 0.754 NA 3.7297386 1279 1 9079154 9079154 C T intronic SLC2A7 NA NA NA intronic ENSG00000197241 NA NA NA NA NA 1p36.23 NA NA NA NA rs12031065 0.4 0.4 0.411 0.396965 0.2704 0.4087 0.4741 0.528 0.2832 0.28 0.42 0.46 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45179 NA NA NA NA NA 0.514 NA 3.7296 1279 1 207871320 207871320 G C intronic CR1L NA NA NA intronic ENSG00000197721 NA NA NA NA NA 1q32.2 NA NA NA NA rs45575738 0.15 0.15 NA 0.129393 0.2704 0.0407 0.1484 0.0605 0.1554 0.27 0.06 0.18 0.05 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072376 NA NA NA NA NA 0.007 NA 3.7296 1279 3 13522973 13522973 C T intronic HDAC11 NA NA NA intronic ENSG00000163517 NA NA NA NA NA 3p25.1 NA NA NA NA rs2675232 0.12 0.12 0.11 0.0988419 0.2704 0.001 0.1527 0.0386 0.0665 0.24 0.0017 0.17 0.04 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383228 NA NA NA NA NA 0.348 NA 3.7296 1279 3 119102250 119102250 G A intronic ARHGAP31 NA NA NA intronic ENSG00000031081 NA NA NA NA NA 3q13.33 NA NA NA NA rs2077599 0.29 0.29 0.278 0.278954 0.2704 0.377 0.1844 0.2784 0.2546 0.28 0.36 0.22 0.26 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431147 NA NA NA NA NA 0.203 NA 3.7296 1279 4 10080462 10080462 A C intronic WDR1 NA NA NA intronic ENSG00000071127 NA NA NA NA NA 4p16.1 NA NA NA NA rs2241469 0.27 0.27 0.254 0.290136 0.2704 0.3502 0.2291 0.1543 0.4755 0.29 0.38 0.2 0.18 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412964 NA NA NA NA ID=COSN167161;OCCURENCE=2(large_intestine) 0.268 NA 3.7296 1279 4 56884079 56884079 T C intronic CEP135 NA NA NA intronic ENSG00000174799 NA NA NA NA NA 4q12 NA NA NA NA rs11934142 0.16 0.16 0.182 0.136182 0.2704 0.0952 0.1182 0.0734 0.138 0.28 0.12 0.12 0.07 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432551 1.432551 NA NA NA NA 0.138 NA 3.7296 1279 17 53038082 53038082 G A intronic TOM1L1 NA NA NA intronic ENSG00000141198,ENSG00000166260 NA NA NA NA NA 17q22 NA NA NA NA rs2287136 0.24 0.24 0.247 0.26258 0.2704 0.1052 0.2262 0.3563 0.316 0.27 0.09 0.26 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024289 NA NA NA NA NA 0.312 NA 3.7296 1279 21 45674629 45674629 G A intronic DNMT3L NA NA NA intronic ENSG00000142182 NA NA NA NA NA 21q22.3 NA NA NA NA rs55831401 0.05 0.05 0.044 0.0359425 0.1083 NA 0.062 0.003 0.0245 0.12 NA 0.06 0.002 0.0683 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002605 NA NA 0.093859 0.015441 NA 0.116 NA 3.729541 1279 1 109466858 109466858 G A intronic GPSM2 NA NA NA exonic ENSG00000121957 NA unknown UNKNOWN NA NA 1p13.3 NA NA NA NA rs705268 0.26 0.26 0.289 0.270367 0.2465 0.0159 0.1542 0.6135 0.1759 0.25 0.01 0.19 0.6 0.2824 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.33706 1.33706 NA 0.241628 0.553563 NA 0.217 NA 3.729472 1279 19 46029187 46029187 T C intronic VASP NA NA NA intronic ENSG00000125753 NA NA NA NA NA 19q13.32 NA NA NA NA rs56216986 0.1 0.1 0.09 0.0966454 0.0855 0.1518 0.0562 0.0461 0.1483 0.1 0.13 0.08 0.06 0.0951 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258262 NA NA 0.090465 0.054471 NA 0.065 NA 3.728935 1279 8 39496029 39496029 T C exonic ADAM18 NA synonymous SNV ADAM18:NM_014237:exon10:c.T873C:p.T291T exonic ENSG00000168619 NA synonymous SNV ENSG00000168619:ENST00000379866:exon9:c.T801C:p.T267T,ENSG00000168619:ENST00000265707:exon10:c.T873C:p.T291T NA NA 8p11.22 NA NA NA NA rs12708194 0.56 0.56 0.569 0.588458 0.6431 0.251 0.5994 0.736 0.6728 0.65 0.27 0.61 0.71 0.6271 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.462134 NA NA 0.667559 0.746482 NA 0.616 NA 3.7289076 1279 13 20224138 20224138 G A intronic MPHOSPH8 NA NA NA intronic ENSG00000196199 NA NA NA NA NA 13q12.11 NA NA NA NA rs9579581 0.1 0.1 0.093 0.106629 0.0974 0.0754 0.0735 0.1974 0.0491 0.09 0.06 0.06 0.2 0.102 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881242 NA NA 0.071695 0.165136 NA 0.174 NA 3.728905 1279 21 47845936 47845936 T C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2330435 0.16 0.16 0.143 0.178714 0.0924 0.004 0.0937 0.4871 0.091 0.09 0.0035 0.1 0.47 0.1029 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194222 NA NA 0.075814 0.432819 NA 0.196 NA 3.728886 1279 19 39879663 39879663 A G intronic PAF1 NA NA NA intronic ENSG00000006712 NA NA NA NA NA 19q13.2 NA NA NA NA rs40353 0.23 0.23 0.267 0.25599 0.0785 0.0853 0.1023 0.739 0.0706 0.08 0.09 0.12 0.72 0.1225 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.300808 NA NA 0.070116 0.655924 NA 0.37 NA 3.728884 1279 22 50506810 50506810 A G intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs5771349 0.11 0.11 0.089 0.131789 0.1332 0.0923 0.1758 0.059 0.2382 0.13 0.1 0.16 0.08 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.859653 NA NA 0.138122 0.078196 NA 0.072 NA 3.728678 1279 13 99356612 99356612 A G exonic SLC15A1 NA synonymous SNV SLC15A1:NM_005073:exon17:c.T1347C:p.A449A exonic ENSG00000088386 NA synonymous SNV ENSG00000088386:ENST00000376503:exon17:c.T1347C:p.A449A NA NA 13q32.3 NA NA NA NA rs1339067 0.59 0.59 0.573 0.633187 0.6342 0.3433 0.7349 0.8578 0.5552 0.63 0.28 0.69 0.84 0.642 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189257 NA NA 0.66186 0.815706 NA 0.638 NA 3.7286066 1279 1 162313518 162313518 A G intronic NOS1AP NA NA NA intronic ENSG00000198929 NA NA NA NA NA 1q23.3 NA NA NA NA rs3751285 0.36 0.36 0.343 0.354433 0.2714 0.5556 0.3934 0.2769 0.3098 0.28 0.55 0.33 0.29 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355309 NA NA NA NA NA 0.333 NA 3.7286 1279 1 212619009 212619009 C A intronic NENF NA NA NA intronic ENSG00000117691 NA NA NA NA NA 1q32.3 NA NA NA NA rs2282435 0.22 0.22 0.191 0.19988 0.2714 0.1399 0.1873 0.2383 0.1452 0.28 0.13 0.23 0.21 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585761 NA NA NA NA NA 0.159 NA 3.7286 1279 2 68620463 68620463 G A intronic PLEK NA NA NA intronic ENSG00000115956 NA NA NA NA NA 2p13.3 NA NA NA NA rs2289688 0.43 0.43 0.409 0.45627 0.2714 0.6855 0.4207 0.4017 0.5092 0.28 0.66 0.41 0.4 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218093 NA NA NA NA NA 0.341 NA 3.7286 1279 7 158902425 158902425 T C intronic VIPR2 NA NA NA intronic ENSG00000106018 NA NA NA NA NA 7q36.3 NA NA NA NA rs3793232 0.35 0.35 0.354 0.35623 0.2714 0.2183 0.2464 0.6793 0.227 0.27 0.24 0.26 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.1785 2.1785 NA NA NA NA 0.471 NA 3.7286 1279 10 129911919 129911919 T A intronic MKI67 NA NA NA intronic ENSG00000148773 NA NA NA NA NA 10q26.2 NA NA NA NA rs12255393 0.2 0.2 0.188 0.180511 0.2714 0.119 0.3112 0.0787 0.1953 0.26 0.15 0.33 0.06 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28715 NA NA NA NA ID=COSN163832;OCCURENCE=1(breast) 0.138 NA 3.7286 1279 21 47847757 47847757 G A intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs55937012 0.16 0.16 0.164 0.178115 0.0924 0.004 0.0937 0.4871 0.0879 0.1 0.0035 0.1 0.47 0.103 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380159 NA NA 0.076047 0.430549 NA 0.196 NA 3.728553 1279 6 145162001 145162001 A G intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA NA Name=7 NA rs4895657 0.71 0.71 0.721 0.738818 0.3668 0.9514 0.6772 0.9818 0.6176 0.37 0.97 0.63 0.97 0.5249 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232723 NA NA 0.380233 0.879709 NA 0.609 NA 3.728067 1279 10 49654342 49654342 C T UTR3 ARHGAP22 NM_001256026:c.*92G>A,NM_001256025:c.*92G>A,NM_001256024:c.*92G>A,NM_021226:c.*92G>A NA NA UTR3 ENSG00000128805 ENST00000249601:c.*92G>A,ENST00000374172:c.*92G>A,ENST00000374170:c.*92G>A,ENST00000477708:c.*92G>A,ENST00000417247:c.*92G>A,ENST00000435790:c.*92G>A NA NA NA NA 10q11.22 NA NA NA NA rs1051508 0.54 0.54 0.531 0.478435 0.6054 0.628 0.4856 0.3336 0.3845 0.61 0.64 0.53 0.32 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164834 NA NA NA NA NA 0.58 NA 3.7279334 1279 7 129663259 129663259 C T intronic ZC3HC1 NA NA NA ncRNA_intronic ENSG00000244036 NA NA NA NA NA 7q32.2 NA NA NA NA rs11762946 0.5 0.5 0.487 0.471645 0.6054 0.6667 0.562 0.0915 0.5828 0.6 0.69 0.5 0.1 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392806 NA NA NA NA NA 0.355 NA 3.7279333 1279 17 10357281 10357281 T G intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs3826444 0.34 0.34 0.319 0.294529 0.6054 0.1359 0.4207 0.1006 0.3108 0.61 0.13 0.43 0.12 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675069 NA NA NA NA NA 0.29 NA 3.7279333 1279 3 132107365 132107365 T A intergenic ACPP,DNAJC13 dist=20219;dist=29188 NA NA ncRNA_exonic ENSG00000240890 NA NA NA NA NA 3q22.1 NA NA NA NA rs9828489 0.26 0.26 0.241 0.247604 0.2724 0.2867 0.2911 0.1505 0.2822 0.28 0.28 0.27 0.21 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421081 NA NA NA NA NA 0.355 NA 3.7276 1279 1 46812519 46812519 A G intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs17361791 0.16 0.16 0.15 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444367 NA NA NA NA NA 0.217 NA 3.7276 1279 1 46818219 46818219 T G intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs72677591 0.16 0.16 0.154 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.13 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858857 NA NA NA NA NA 0.217 NA 3.7276 1279 1 46818416 46818416 A C intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs17413694 0.14 0.14 0.128 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.24 0.02 0.16 0.12 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359972 NA NA NA NA NA NA NA 3.7276 1279 1 46818417 46818417 T C intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs77185326 0.14 0.14 0.124 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.24 0.02 0.16 0.12 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86165 NA NA NA NA NA NA NA 3.7276 1279 1 46818442 46818442 G A intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs41294478 0.16 0.16 0.15 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147416 NA NA NA NA NA 0.217 NA 3.7276 1279 1 46818452 46818452 A G intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs17413701 0.16 0.16 0.15 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370029 NA NA NA NA NA 0.217 NA 3.7276 1279 1 46818479 46818479 C T intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs7515598 0.16 0.16 0.138 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30729 NA NA NA NA NA 0.174 NA 3.7276 1279 1 46826587 46826587 C A intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs55887761 0.16 0.16 0.165 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.14 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142096 NA NA NA NA NA 0.217 NA 3.7276 1279 1 204970243 204970243 A G intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs4950976 0.21 0.21 0.208 0.225839 0.2724 0.2391 0.183 0.1293 0.3252 0.27 0.22 0.23 0.11 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.653952 1.653952 NA NA NA NA 0.29 NA 3.7276 1279 1 209796267 209796267 G A intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA NA NA NA rs3737913 0.31 0.31 0.283 0.296725 0.2724 0.3661 0.4121 0.2405 0.2444 0.28 0.36 0.34 0.26 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072701 NA NA NA NA NA 0.275 NA 3.7276 1279 4 89708850 89708850 A G intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA rs11725153 0.12 0.12 0.115 0.101837 0.2724 NA 0.1383 0.0076 0.1329 0.26 NA 0.16 0.01 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078866 NA NA NA NA NA 0.116 NA 3.7276 1279 5 35861152 35861152 C G intronic IL7R NA NA NA intronic ENSG00000168685 NA NA NA NA NA 5p13.2 NA NA NA NA rs11567705 0.24 0.24 0.215 0.233826 0.2724 0.2351 0.1931 0.205 0.2607 0.28 0.23 0.21 0.21 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459116 NA NA NA NA ID=COSN167435;OCCURENCE=1(large_intestine) 0.268 NA 3.7276 1279 15 79071961 79071961 C T intronic ADAMTS7 NA NA NA intronic ENSG00000136378 NA NA NA NA NA 15q25.1 NA NA NA NA rs59697303 0.31 0.31 0.283 0.335064 0.2724 0.3343 0.3343 0.3283 0.41 0.28 0.33 0.35 0.29 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599956 NA NA NA NA NA 0.101 NA 3.7276 1279 19 6906357 6906357 C G intronic EMR1 NA NA NA intronic ENSG00000174837 NA NA NA NA NA 19p13.2 NA NA NA NA rs366181 0.47 0.47 0.514 0.498602 0.2724 0.4841 0.4496 0.8306 0.3323 0.26 0.51 0.41 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635144 NA NA NA NA NA 0.5 NA 3.7276 1279 22 43471386 43471386 G C intronic TTLL1 NA NA NA intronic ENSG00000100271 NA NA NA NA NA 22q13.2 NA NA NA NA rs2294413 0.51 0.51 0.527 0.546526 0.2724 0.8105 0.5216 0.6021 0.499 0.25 0.78 0.49 0.6 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096758 NA NA NA NA NA 0.486 NA 3.7276 1279 2 100022772 100022772 T C intronic REV1 NA NA NA intronic ENSG00000135945 NA NA NA NA NA 2q11.2 NA Name=Pol2-4H8 NA NA rs717454 0.43 0.43 0.4 0.396366 0.4304 0.3115 0.6225 0.4115 0.2679 0.43 0.34 0.61 0.41 0.4276 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581872 NA NA 0.414884 0.412165 NA 0.42 NA 3.727116 1279 1 162766476 162766476 C T intronic HSD17B7 NA NA NA intronic ENSG00000132196 NA NA NA NA NA 1q23.3 NA Name=CEBPB Name=5 NA rs1780019 0.57 0.57 0.551 0.534145 0.7813 0.5645 0.5692 0.2118 0.6595 0.8 0.56 0.6 0.2 0.699 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339554 NA NA 0.792674 0.297776 NA 0.601 NA 3.727026 1279 20 2775872 2775872 T C intronic CPXM1 NA NA NA intronic ENSG00000088882 NA NA NA NA NA 20p13 NA NA NA NA rs41306788 0.05 0.05 0.033 0.0447284 0.0875 0.002 0.1268 0.0038 0.0419 0.1 0.0017 0.11 0.0041 0.088 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197293 NA NA 0.097674 0.019065 NA 0.007 NA 3.726826 1279 21 39762883 39762883 T C intronic ERG NA NA NA intronic ENSG00000157554 NA NA NA NA NA 21q22.2 NA NA NA NA rs2246468 0.1 0.1 0.073 0.0964457 0.0696 0.1359 0.2046 0.0174 0.1135 0.07 0.13 0.17 0.04 0.1071 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394399 NA NA 0.096512 0.029278 NA 0.087 NA 3.726788 1279 3 183756813 183756813 C T UTR3 HTR3D NM_182537:c.*50C>T,NM_001145143:c.*50C>T,NM_001163646:c.*50C>T NA NA UTR3 ENSG00000186090 ENST00000334128:c.*50C>T,ENST00000382489:c.*50C>T,ENST00000453435:c.*50C>T NA NA NA NA 3q27.1 NA NA NA NA rs6789682 0.33 0.33 0.311 0.367412 0.1839 0.4345 0.2968 0.6445 0.1626 0.18 0.4 0.22 0.57 0.2395 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321525 NA NA 0.183256 0.568997 NA 0.319 NA 3.7266774 1279 2 23621521 23621521 T C intronic KLHL29 NA NA NA intronic ENSG00000119771 NA NA NA NA NA 2p24.1 NA NA NA NA rs7560798 0.2 0.2 0.2 0.21905 0.2734 0.122 0.196 0.1861 0.3241 0.26 0.12 0.24 0.18 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140217 NA NA NA NA NA 0.297 NA 3.7266 1279 2 172642057 172642057 C T intronic SLC25A12 NA NA NA intronic ENSG00000115840 NA NA NA NA NA 2q31.1 NA NA NA NA rs12692973 0.28 0.28 0.27 0.264776 0.2734 0.1994 0.2349 0.3926 0.1718 0.27 0.22 0.24 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753066 NA NA NA NA ID=COSN166336;OCCURENCE=1(breast) 0.355 NA 3.7266 1279 2 231118186 231118186 G A intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs3769840 0.23 0.23 0.219 0.207668 0.2734 0.2103 0.2392 0.1641 0.1738 0.28 0.23 0.21 0.16 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.049398 NA NA NA NA NA 0.203 NA 3.7266 1279 3 53217413 53217413 A G intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA rs2306572 0.21 0.21 0.189 0.201078 0.2734 0.2063 0.2695 0.0809 0.2352 0.28 0.2 0.28 0.08 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324459 NA NA NA NA NA 0.167 NA 3.7266 1279 6 43250387 43250387 G C intronic TTBK1 NA NA NA intronic ENSG00000146216 NA NA NA NA NA 6p21.1 NA NA NA NA rs6936397 0.35 0.35 0.357 0.385583 0.2734 0.2827 0.2565 0.7126 0.2566 0.26 0.26 0.26 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03369 NA NA NA NA NA 0.326 NA 3.7266 1279 6 44057088 44057088 C T intergenic C6orf223,MRPL14 dist=83394;dist=24285 NA NA ncRNA_exonic ENSG00000183239 NA NA NA NA NA 6p21.1 NA NA NA NA rs9472209 0.4 0.4 0.369 0.398363 0.2734 0.5228 0.3761 0.5219 0.2474 0.28 0.49 0.35 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042529 NA NA NA NA NA 0.37 NA 3.7266 1279 10 4884800 4884800 A G intronic AKR1E2 NA NA NA intronic ENSG00000165568 NA NA NA NA NA 10p15.1 NA NA NA NA rs2961592 0.22 0.22 0.212 0.205671 0.2734 0.2192 0.2118 0.1452 0.1994 0.26 0.21 0.28 0.15 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030086 NA NA NA NA NA 0.203 NA 3.7266 1279 11 2593977 2593977 A G intronic KCNQ1 NA NA NA intronic ENSG00000053918 NA NA NA NA NA 11p15.5 NA NA NA NA rs4930127 0.44 0.44 0.394 0.468251 0.2734 0.6101 0.4669 0.5726 0.3824 0.28 0.61 0.41 0.53 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17455 NA NA NA NA NA 0.529 NA 3.7266 1279 11 118240332 118240332 T C intronic UBE4A NA NA NA intronic ENSG00000110344 NA NA NA NA NA 11q23.3 NA NA NA NA rs11216860 0.33 0.33 0.316 0.34984 0.2734 0.5804 0.1902 0.1755 0.5399 0.28 0.59 0.24 0.16 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.983982 NA NA NA NA NA 0.297 NA 3.7266 1279 12 6883670 6883670 G C intronic LAG3 NA NA NA intronic ENSG00000089692 NA NA NA NA NA 12p13.31 NA NA NA NA rs2365094 0.31 0.31 0.273 0.323682 0.2734 0.4464 0.3977 0.1936 0.3722 0.26 0.45 0.36 0.21 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025182 NA NA NA NA NA 0.239 NA 3.7266 1279 17 560851 560851 T C intronic VPS53 NA NA NA intronic ENSG00000141252 NA NA NA NA NA 17p13.3 NA NA NA NA rs2543777 0.17 0.17 0.16 0.159345 0.2734 0.0952 0.1556 0.0408 0.271 0.28 0.1 0.18 0.06 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.73832 NA NA NA NA NA 0.13 NA 3.7266 1279 19 746206 746206 C T intronic PALM NA NA NA intronic ENSG00000099864 NA NA NA NA NA 19p13.3 NA NA NA NA rs2384776 0.27 0.27 0.208 0.271965 0.2734 0.1964 0.3934 0.2708 0.2638 0.28 0.18 0.38 0.26 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19793 NA NA NA NA NA 0.203 NA 3.7266 1279 13 31903841 31903841 A G UTR3 B3GALTL NM_194318:c.*36A>G NA NA UTR3 ENSG00000187676 ENST00000343307:c.*36A>G NA NA NA NA 13q12.3 NA NA NA NA rs112937254 0.1 0.1 0.084 0.0730831 0.2177 0.001 0.1153 0.0076 0.0573 0.21 0.0017 0.16 0.002 0.1615 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368495 NA NA 0.227674 0.041534 NA 0.065 NA 3.7264594 1279 15 52903749 52903749 T C intronic FAM214A NA NA NA intronic ENSG00000047346 NA NA NA NA NA 15q21.3 NA NA NA NA rs8036671 0.07 0.07 0.071 0.0780751 0.0865 0.001 0.0706 0.1377 0.0736 0.09 NA 0.09 0.13 0.0893 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312588 NA NA 0.098066 0.126645 NA 0.08 NA 3.726134 1279 11 1857112 1857112 C A intronic SYT8 NA NA NA intronic ENSG00000149043 NA NA NA Score=340;Name=lod=32 NA 11p15.5 NA NA NA NA rs907606 0.3 0.3 0.285 0.276957 0.4384 0.2649 0.2032 0.118 0.3906 0.44 0.29 0.26 0.12 0.3875 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225059 NA NA 0.448011 0.15493 ID=COSM428788;OCCURENCE=1(breast) 0.341 NA 3.726089 1279 17 10400963 10400963 C G intronic MYH1 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs723903 0.38 0.38 0.351 0.329073 0.6074 0.1339 0.4294 0.2322 0.3037 0.61 0.13 0.43 0.26 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.054072 NA NA NA NA NA 0.355 NA 3.7259333 1279 5 142416741 142416741 T C intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA NA NA 5q31.3 NA Name=NANOG_(SC-33759),NRSF Name=68 NA rs192194 0.66 0.66 0.65 0.644768 0.7913 0.3234 0.621 0.8041 0.6268 0.79 0.36 0.69 0.78 0.7071 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92141 NA NA 0.77593 0.786428 NA 0.732 NA 3.72567 1279 2 30682470 30682470 A T UTR5 LCLAT1 NM_182551:c.-9A>T NA NA UTR5 ENSG00000172954 ENST00000319406:c.-9A>T,ENST00000359433:c.-9A>T,ENST00000309052:c.-9A>T,ENST00000540623:c.-65987A>T,ENST00000478015:c.-9A>T,ENST00000497423:c.-9A>T NA NA NA NA 2p23.1 NA NA NA NA rs55723517 0.1 0.1 0.092 0.0766773 0.2237 0.002 0.1427 0.0136 0.0409 0.21 0.0017 0.16 0.02 0.1546 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581182 NA NA 0.229419 0.051975 NA 0.13 NA 3.7256144 1279 2 220336517 220336517 C T intronic SPEG NA NA NA intronic ENSG00000072195 NA NA NA NA NA 2q35 NA NA NA NA rs73991563 0.26 0.26 0.297 0.313698 0.2744 0.1369 0.2695 0.3964 0.456 0.27 0.15 0.28 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731489 NA NA NA NA NA 0.239 NA 3.7256 1279 9 35722282 35722282 T C intronic TLN1 NA NA NA intronic ENSG00000137076 NA NA NA NA NA 9p13.3 NA NA NA NA rs2295797 0.24 0.24 0.225 0.205871 0.2744 0.3423 0.2738 0.0212 0.1963 0.26 0.38 0.28 0.02 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618598 NA NA NA NA NA 0.188 NA 3.7256 1279 10 85936160 85936160 T C intronic C10orf99 NA NA NA intronic ENSG00000188373 NA NA NA NA NA 10q23.1 NA NA NA NA rs4348833 0.19 0.19 0.163 0.164537 0.2744 0.2252 0.1801 0.0431 0.1421 0.26 0.19 0.2 0.05 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6647 NA NA NA NA NA 0.167 NA 3.7256 1279 13 22113669 22113669 C T intronic MICU2 NA NA NA intronic ENSG00000165487 NA NA NA NA NA 13q12.11 NA NA NA NA rs34005684 0.13 0.13 0.107 0.0986422 0.2744 0.002 0.1585 0.0113 0.093 0.29 0.0017 0.18 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487814 NA NA NA NA NA 0.188 NA 3.7256 1279 16 57056064 57056064 G T intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs4784750 0.17 0.17 0.166 0.151757 0.2744 0.0536 0.2478 0.0719 0.1667 0.29 0.04 0.25 0.08 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23332 NA NA NA NA NA 0.116 NA 3.7256 1279 19 14773022 14773022 T C intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA NA NA 19p13.12 NA NA NA NA rs8102148 0.23 0.23 0.253 0.234425 0.2744 0.1498 0.1888 0.2912 0.2362 0.26 0.13 0.22 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165013 NA NA NA NA NA 0.261 NA 3.7256 1279 5 52356701 52356701 T G intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3212539 0.1 0.1 0.117 0.106829 0.0895 0.0317 0.0663 0.2035 0.1002 0.09 0.03 0.06 0.25 0.0892 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442827 NA NA 0.095953 0.182705 NA 0.109 NA 3.725347 1279 5 52382748 52382748 A T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3212635 0.11 0.11 0.109 0.104233 0.0885 0.0298 0.0677 0.2035 0.089 0.09 0.03 0.06 0.26 0.0899 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540264 NA NA 0.096279 0.180663 NA 0.109 NA 3.725321 1279 16 29982961 29982961 C T intronic TMEM219 NA NA NA UTR3 ENSG00000149932 ENST00000561899:c.*95C>T NA NA NA NA 16p11.2 NA NA NA NA rs9932702 0.38 0.38 0.376 0.405351 0.4414 0.377 0.3372 0.3578 0.5102 0.44 0.36 0.36 0.34 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.209193 2.209193 NA NA NA NA 0.391 NA 3.7252667 1279 19 6990702 6990702 A G ncRNA_intronic EMR4P NA NA NA ncRNA_intronic ENSG00000268758 NA NA NA NA NA 19p13.2 NA NA NA NA rs12972391 0.45 0.45 0.433 0.465056 0.4851 0.5288 0.5029 0.351 0.5061 0.47 0.43 0.53 0.37 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48904 NA NA 0.456317 0.370665 NA 0.449 NA 3.7252496 1280 11 93466866 93466866 G T ncRNA_exonic MIR1304 NA NA NA ncRNA_exonic ENSG00000221170 NA NA NA NA NA 11q21 NA Name=Pol2(b),Pol2-4H8 Name=22 NA rs2155248 0.89 0.89 0.885 0.879193 0.9901 0.9385 0.9438 0.6346 0.9888 0.99 0.93 0.95 0.64 0.9601 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152329 NA NA 0.991704 0.698513 NA 0.841 NA 3.7247626 1280 1 216824505 216824505 C G intronic ESRRG NA NA NA intronic ENSG00000196482 NA NA NA NA NA 1q41 NA NA NA NA rs10863261 0.16 0.16 0.15 0.133586 0.2753 0.0774 0.2003 0.0083 0.1677 0.29 0.1 0.2 0.01 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572265 NA NA NA NA NA 0.152 NA 3.7247 1280 2 11777757 11777757 T C intronic GREB1 NA NA NA intronic ENSG00000196208 NA NA NA NA NA 2p25.1 NA NA NA NA rs3749064 0.28 0.28 0.256 0.273562 0.2753 0.4087 0.2392 0.1293 0.3517 0.28 0.42 0.27 0.14 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037646 NA NA NA NA NA 0.232 NA 3.7247 1280 9 127643946 127643946 A G intronic GOLGA1 NA NA NA intronic ENSG00000136935 NA NA NA NA NA 9q33.3 NA NA NA NA rs2304957 0.17 0.17 0.162 0.158546 0.2753 0.1101 0.1153 0.0908 0.2106 0.28 0.11 0.12 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449115 NA NA NA NA NA 0.13 NA 3.7247 1280 20 47632754 47632754 A G intronic ARFGEF2 NA NA NA intronic ENSG00000124198 NA NA NA NA NA 20q13.13 NA NA NA NA rs1473718 0.31 0.31 0.276 0.292133 0.2753 0.4812 0.3602 0.0787 0.3548 0.27 0.51 0.33 0.12 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41729 NA NA NA NA ID=COSN166563;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.384 NA 3.7247 1280 7 133984878 133984878 G A intronic SLC35B4 NA NA NA intronic ENSG00000205060 NA NA NA NA NA 7q33 NA NA Name=10 NA rs34664116 0.29 0.29 0.256 0.305911 0.4374 0.122 0.5 0.0908 0.5133 0.45 0.12 0.47 0.09 0.398 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212074 NA NA 0.440581 0.156832 ID=COSN168202;OCCURENCE=1(large_intestine) 0.254 NA 3.724019 1280 1 92200634 92200634 C T intronic TGFBR3 NA NA NA intronic ENSG00000069702 NA NA NA NA NA 1p22.1 NA NA NA NA rs11165377 0.23 0.23 0.21 0.216254 0.2763 0.2857 0.1888 0.1324 0.2157 0.28 0.25 0.22 0.16 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353575 NA NA NA NA NA 0.174 NA 3.7237 1280 7 5262151 5262151 C T intronic WIPI2 NA NA NA intronic ENSG00000157954 NA NA NA NA NA 7p22.1 NA NA NA NA rs62441068 0.31 0.31 0.274 0.324681 0.2763 0.2401 0.5043 0.3116 0.3517 0.28 0.27 0.46 0.28 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925861 NA NA NA NA NA 0.283 NA 3.7237 1280 9 84564152 84564152 C T UTR3 SPATA31D3 NM_207416:c.*1230C>T NA NA ncRNA_exonic ENSG00000186788 NA NA NA NA NA 9q21.32 NA NA NA NA rs641486 0.89 0.89 0.897 0.915535 0.7763 0.999 0.879 0.9864 0.9029 0.77 1 0.86 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31743 NA NA NA NA NA 0.899 NA 3.7237 1280 10 3147456 3147456 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs4271292 0.32 0.32 0.278 0.330072 0.2763 0.495 0.3372 0.2179 0.362 0.26 0.51 0.28 0.22 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515305 NA NA NA NA NA 0.174 NA 3.7237 1280 13 52483094 52483094 T C intergenic CCDC70,ATP7B dist=42722;dist=23712 NA NA ncRNA_exonic ENSG00000232872 NA NA NA NA NA 13q14.3 NA NA NA NA rs4943039 0.3 0.3 0.234 0.311701 0.2763 0.4921 0.3112 0.2322 0.2699 0.23 0.5 0.27 0.19 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493354 NA NA NA NA NA 0.188 NA 3.7237 1280 19 43860048 43860048 G T intronic CD177 NA NA NA intronic ENSG00000204936 NA NA NA NA NA 19q13.31 NA NA NA NA rs2286403 0.31 0.31 0.28 0.380591 0.2763 0.6667 0.3401 0.211 0.4509 0.2 0.58 0.29 0.18 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351025 NA NA NA NA NA 0.333 NA 3.7237 1280 20 58559654 58559654 C A intronic CDH26 NA NA NA intronic ENSG00000124215 NA NA NA NA NA 20q13.33 NA NA NA NA rs1474909 0.05 0.05 0.055 0.0541134 0.0954 0.0149 0.0562 0.003 0.1196 0.1 0.01 0.08 0.0041 0.0861 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207662 NA NA 0.094822 0.019028 NA 0.051 NA 3.723678 1280 19 54756221 54756221 T C intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs3843753 0.1 0.1 0.078 0.0930511 0.0865 0.0843 0.1686 0.115 0.0256 0.09 0.09 0.12 0.13 0.0974 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.7051 NA NA 0.092442 0.109396 NA 0.087 NA 3.723658 1280 11 18741847 18741847 G C intronic IGSF22 NA NA NA ncRNA_intronic ENSG00000254966 NA NA NA NA NA 11p15.1 NA NA NA NA rs11024770 0.19 0.19 0.165 0.171526 0.2048 0.1944 0.3084 0.0779 0.1431 0.22 0.18 0.28 0.1 0.211 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.729598 1.729598 NA 0.194005 0.086457 NA 0.145 NA 3.7235283 1280 9 79888146 79888146 G A intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA NA NA NA rs17063468 0.09 0.09 0.081 0.0726837 0.0954 0.122 0.0576 0.0356 0.0593 0.1 0.13 0.05 0.05 0.0914 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.199201 NA NA 0.08969 0.053808 NA 0.051 NA 3.72351 1280 20 43566863 43566863 G A intronic PABPC1L NA NA NA intronic ENSG00000101104 NA NA NA NA NA 20q13.12 NA NA NA NA rs2273357 0.11 0.11 0.094 0.0964457 0.0954 0.1379 0.0735 0.1316 0.0235 0.09 0.13 0.07 0.13 0.0926 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745384 NA NA 0.088498 0.12787 NA 0.145 NA 3.723502 1280 9 131392522 131392522 C T intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs41308912 0.05 0.05 0.04 0.0329473 0.0924 NA 0.0821 0.0023 0.0123 0.09 NA 0.11 0.0041 0.0696 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800604 NA NA 0.114515 0.025114 NA 0.116 NA 3.723485 1280 1 152975495 152975495 G A UTR5 SPRR3 NM_005416:c.-2G>A,NM_001097589:c.-2G>A NA NA UTR5 ENSG00000163209 ENST00000331860:c.-2G>A,ENST00000443178:c.-2G>A,ENST00000295367:c.-2G>A NA NA Score=304;Name=lod=23 NA 1q21.3 NA NA NA NA rs2075739 0.55 0.55 0.559 0.52496 0.5328 0.6319 0.4337 0.5 0.5051 0.53 0.66 0.48 0.52 0.5337 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.138498 2.138498 NA 0.543488 0.524966 NA 0.464 NA 3.7233454 1280 5 145377136 145377136 T C intronic SH3RF2 NA NA NA ncRNA_exonic ENSG00000248493 NA NA NA NA NA 5q32 NA NA NA NA rs4913060 0.65 0.65 0.625 0.659944 0.6103 0.7212 0.572 0.6074 0.7812 0.63 0.71 0.6 0.65 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.260584 NA NA NA NA NA 0.536 NA 3.7230333 1280 5 145377479 145377479 C T intronic SH3RF2 NA NA NA ncRNA_exonic ENSG00000248493 NA NA NA NA NA 5q32 NA NA NA NA rs17492228 0.61 0.61 0.575 0.606829 0.6103 0.7212 0.5591 0.413 0.7812 0.63 0.71 0.59 0.46 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.873626 NA NA NA NA NA 0.493 NA 3.7230333 1280 8 16927250 16927250 A C intronic MICU3 NA NA NA intronic ENSG00000155970 NA NA NA NA NA 8p22 NA NA NA NA rs17686794 0.13 0.13 0.117 0.114018 0.0984 0.255 0.1138 0.0113 0.1237 0.09 0.26 0.12 0.02 0.0993 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45108 NA NA 0.079519 0.025717 ID=COSN168281;OCCURENCE=1(large_intestine) 0.051 NA 3.722781 1280 1 6188779 6188779 G C intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs2273033 0.22 0.22 0.201 0.250799 0.2773 0.1875 0.3458 0.0832 0.4479 0.28 0.18 0.31 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782898 NA NA NA NA NA 0.29 NA 3.7227 1280 3 186967942 186967942 G A intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA NA NA 3q27.3 NA NA NA NA rs2302818 0.22 0.22 0.22 0.21885 0.2773 0.3403 0.147 0.0212 0.3517 0.29 0.33 0.18 0.04 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487441 NA NA NA NA NA 0.145 NA 3.7227 1280 5 64976687 64976687 C T intronic SGTB NA NA NA intronic ENSG00000197860 NA NA NA NA NA 5q12.3 NA NA NA NA rs3213798 0.24 0.24 0.203 0.268171 0.2773 0.2272 0.2752 0.1649 0.4356 0.27 0.22 0.23 0.23 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401283 NA NA NA NA NA 0.333 NA 3.7227 1280 6 129813346 129813346 C T intronic LAMA2 NA NA NA intronic ENSG00000196569 NA NA NA NA NA 6q22.33 NA NA NA NA rs1889891 0.39 0.39 0.375 0.398762 0.2773 0.3502 0.3674 0.5998 0.3241 0.29 0.39 0.35 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921024 NA NA NA NA NA 0.457 NA 3.7227 1280 7 29111578 29111578 A C intronic CPVL NA NA NA intronic ENSG00000106066 NA NA NA NA NA 7p14.3 NA NA NA NA rs2074784 0.34 0.34 0.322 0.344449 0.2773 0.619 0.2983 0.1248 0.4601 0.27 0.64 0.28 0.14 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207483 NA NA NA NA NA 0.217 NA 3.7227 1280 9 116048874 116048874 A G intronic PRPF4 NA NA NA intronic ENSG00000136875 NA NA NA NA NA 9q32 NA NA NA NA rs4979232 0.25 0.25 0.237 0.246206 0.2773 0.3681 0.1499 0.062 0.4059 0.28 0.4 0.18 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31705 NA NA NA NA NA 0.21 NA 3.7227 1280 14 39763111 39763111 G A intronic CTAGE5 NA NA NA intronic ENSG00000150527,ENSG00000258941 NA NA NA NA NA 14q21.1 NA NA NA NA rs956108 0.32 0.32 0.312 0.290535 0.2773 0.5159 0.2334 0.2209 0.2065 0.26 0.52 0.27 0.22 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11439 NA NA NA NA NA 0.232 NA 3.7227 1280 15 22784266 22784266 C T intergenic GOLGA6L1,TUBGCP5 dist=38264;dist=49129 NA NA ncRNA_exonic ENSG00000259400 NA NA NA NA NA 15q11.2 NA NA NA NA rs11855955 0.35 0.35 0.355 0.341653 0.2773 0.4812 0.2305 0.3812 0.2894 0.27 0.5 0.23 0.39 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911898 NA NA NA NA NA 0.261 NA 3.7227 1280 15 79851771 79851771 C T intergenic KIAA1024,MTHFS dist=87129;dist=284118 NA NA ncRNA_exonic ENSG00000259493 NA NA NA NA NA 15q25.1 NA NA NA NA rs2242328 0.36 0.36 0.324 0.352037 0.2773 0.6161 0.2536 0.3192 0.271 0.27 0.6 0.27 0.29 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278144 NA NA NA NA NA 0.297 NA 3.7227 1280 16 28137248 28137248 C A intronic XPO6 NA NA NA intronic ENSG00000169180 NA NA NA NA NA 16p11.2 NA NA NA NA rs39631 0.23 0.23 0.222 0.220248 0.2773 0.1032 0.2579 0.3268 0.1115 0.28 0.06 0.26 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956611 NA NA NA NA NA 0.232 NA 3.7227 1280 19 50493131 50493131 G A intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs2304112 0.49 0.49 0.511 0.509185 0.2773 0.746 0.4452 0.5688 0.4683 0.26 0.76 0.43 0.59 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23561 NA NA NA NA NA 0.435 NA 3.7227 1280 16 21388110 21388110 T C ncRNA_exonic SNX29P1 NA NA NA intergenic ENSG00000257403,ENSG00000158482 dist=24651;dist=3203 NA NA Score=654;Name=lod=608 NA 16p12.2 NA NA NA NA rs2686119 0.41 0.41 0.27 0.411542 0.7048 0.2063 0.5331 0.1815 0.546 0.66 0.19 0.57 0.15 0.5731 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737222 NA NA NA NA NA 0.428 NA 3.7221 1280 7 89861942 89861942 C T UTR3 STEAP2 NM_152999:c.*4C>T,NM_001244944:c.*4C>T,NM_001040665:c.*4C>T NA NA UTR3 ENSG00000157214 ENST00000287908:c.*4C>T,ENST00000394622:c.*4C>T NA NA NA NA 7q21.13 NA Name=p300 Name=13 NA rs194526 0.94 0.94 0.933 0.95028 0.8708 0.999 0.902 0.9894 0.9632 0.88 1 0.89 0.99 0.8944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152301 NA NA 0.846172 0.96706 NA 0.913 NA 3.7219614 1280 2 3482912 3482912 G A intronic TRAPPC12 NA NA NA intronic ENSG00000171853 NA NA NA NA NA 2p25.3 NA NA NA NA rs13431788 0.3 0.3 0.31 0.288538 0.2783 0.38 0.2291 0.2579 0.2883 0.28 0.42 0.23 0.24 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025142 NA NA NA NA NA 0.326 NA 3.7217 1280 3 42234758 42234758 C A intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA NA NA NA rs3816397 0.38 0.38 0.347 0.375998 0.2783 0.4931 0.5375 0.2761 0.3763 0.27 0.51 0.52 0.29 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862484 NA NA NA NA NA 0.312 NA 3.7217 1280 5 6748810 6748810 G A intronic PAPD7 NA NA NA intronic ENSG00000112941 NA NA NA NA NA 5p15.31 NA NA NA NA rs2279653 0.2 0.2 0.186 0.180312 0.2783 0.1746 0.1801 0.0998 0.1943 0.26 0.2 0.2 0.1 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731458 NA NA NA NA NA 0.326 NA 3.7217 1280 9 137659005 137659005 A T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs4842160 0.32 0.32 0.334 0.327875 0.2783 0.4067 0.1888 0.3873 0.316 0.27 0.39 0.2 0.38 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547868 NA NA NA NA ID=COSN168700;OCCURENCE=1(large_intestine) 0.348 NA 3.7217 1280 12 48192062 48192062 A C intronic HDAC7 NA NA NA intronic ENSG00000061273 NA NA NA NA NA 12q13.11 NA NA NA NA rs34922454 0.23 0.23 0.253 0.245407 0.2783 0.0357 0.1844 0.4523 0.1912 0.27 0.04 0.2 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515744 NA NA NA NA NA 0.37 NA 3.7217 1280 12 133374829 133374829 G A intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs882377 0.2 0.2 0.198 0.173722 0.2783 0.1696 0.1571 0.1233 0.1503 0.29 0.18 0.16 0.11 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637016 NA NA NA NA NA 0.225 NA 3.7217 1280 14 39627695 39627695 C T intronic TRAPPC6B NA NA NA intronic ENSG00000182400 NA NA NA NA NA 14q21.1 NA NA NA NA rs9322994 0.19 0.19 0.179 0.186901 0.2783 0.2321 0.2017 0.0091 0.2761 0.27 0.21 0.23 0.02 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113825 NA NA NA NA NA 0.196 NA 3.7217 1280 16 28133152 28133152 C A intronic XPO6 NA NA NA intronic ENSG00000169180 NA NA NA NA NA 16p11.2 NA NA NA NA rs39998 0.23 0.23 0.224 0.220248 0.2783 0.1032 0.2579 0.326 0.1115 0.29 0.06 0.26 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.187146 2.187146 NA NA NA NA 0.232 NA 3.7217 1280 16 71950293 71950293 G A intronic IST1 NA NA NA intronic ENSG00000182149,ENSG00000261750 NA NA NA NA NA 16q22.2 NA NA NA NA rs12921279 0.14 0.14 0.125 0.123602 0.2783 0.0476 0.1239 0.0356 0.1616 0.29 0.05 0.15 0.03 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183035 NA NA NA NA NA 0.159 NA 3.7217 1280 10 37447549 37447549 G A intronic ANKRD30A NA NA NA intronic ENSG00000148513 NA NA NA NA NA 10p11.21 NA NA NA NA rs11011052 0.07 0.07 0.038 0.0684904 0.0974 0.1161 0.0706 0.025 0.047 0.08 0.09 0.1 0.01 0.0831 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812149 NA NA 0.097969 0.028244 NA 0.043 NA 3.721531 1280 21 47850155 47850155 G C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs1023160 0.16 0.16 0.177 0.180112 0.0924 0.004 0.0937 0.4947 0.0879 0.1 0.0035 0.1 0.49 0.1103 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837554 NA NA 0.076047 0.439174 NA 0.145 NA 3.721253 1280 11 9917620 9917620 G C intronic SBF2 NA NA NA ncRNA_intronic ENSG00000255476 NA NA NA NA NA 11p15.4 NA NA NA NA rs4910073 0.35 0.35 0.343 0.363818 0.3131 0.251 0.3573 0.5303 0.3119 0.32 0.28 0.39 0.46 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228913 NA NA 0.299497 0.49711 NA 0.333 NA 3.7207363 1280 1 110255174 110255174 T G intronic GSTM5 NA NA NA intronic ENSG00000134201 NA NA NA NA NA 1p13.3 NA NA NA NA rs929166 0.43 0.43 0.303 0.353435 0.2793 0.6865 0.438 0.1225 0.3384 0.34 0.69 0.47 0.23 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167011 NA NA NA NA NA 0.319 NA 3.7207 1280 2 138378388 138378388 A G intronic THSD7B NA NA NA intronic ENSG00000144229 NA NA NA NA NA 2q22.1 NA NA NA NA rs1448922 0.26 0.26 0.27 0.282348 0.2793 0.0734 0.1772 0.4539 0.3436 0.28 0.08 0.22 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624987 NA NA NA NA NA 0.42 NA 3.7207 1280 4 89669110 89669110 G A intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA rs7658690 0.46 0.46 0.45 0.516573 0.2793 0.5446 0.2853 0.7458 0.5859 0.29 0.56 0.27 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980005 NA NA NA NA NA 0.471 NA 3.7207 1280 4 89669115 89669115 A G intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA rs7658214 0.46 0.46 0.333 0.516973 0.2793 0.5446 0.2853 0.7474 0.5859 0.29 0.56 0.27 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.417618 NA NA NA NA NA 0.471 NA 3.7207 1280 4 89669928 89669928 G A intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA rs3822077 0.45 0.45 0.461 0.511382 0.2793 0.5446 0.2839 0.7269 0.5859 0.29 0.56 0.27 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560569 NA NA NA NA NA 0.464 NA 3.7207 1280 12 133428131 133428131 C T intronic CHFR NA NA NA intronic ENSG00000072609 NA NA NA NA NA 12q24.33 NA NA NA NA rs2306540 0.18 0.18 0.168 0.142572 0.2793 0.1736 0.1585 0.0113 0.136 0.29 0.18 0.16 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176207 NA NA NA NA NA 0.167 NA 3.7207 1280 14 21486054 21486054 T C intronic NDRG2 NA NA NA intronic ENSG00000165795 NA NA NA NA NA 14q11.2 NA NA NA NA rs1243444 0.28 0.28 0.262 0.274561 0.2793 0.2966 0.3285 0.2398 0.2556 0.27 0.27 0.32 0.26 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.209985 NA NA NA NA NA 0.239 NA 3.7207 1280 14 51210853 51210853 T C intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA NA NA NA rs1547078 0.18 0.18 0.175 0.21226 0.2793 0.1458 0.2075 0.1498 0.2996 0.26 0.14 0.2 0.12 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508872 NA NA NA NA NA 0.138 NA 3.7207 1280 1 150799112 150799112 A C intronic ARNT NA NA NA intronic ENSG00000143437 NA NA NA NA NA 1q21.3 NA NA NA NA rs3768017 0.08 0.08 0.074 0.0780751 0.0905 0.1726 0.0504 0.003 0.089 0.08 0.19 0.04 NA 0.0958 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061303 NA NA 0.093015 0.018872 NA 0.065 NA 3.720685 1280 6 125112614 125112614 C A intronic NKAIN2 NA NA NA intronic ENSG00000188580 NA NA NA NA NA 6q22.31 NA NA NA NA rs877058 0.22 0.22 0.206 0.208466 0.1332 0.4911 0.0793 0.0976 0.2362 0.13 0.5 0.07 0.14 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411889 NA NA 0.146135 0.100434 NA 0.246 NA 3.720665 1280 7 148801091 148801091 G A exonic ZNF425 NA synonymous SNV ZNF425:NM_001001661:exon4:c.C1872T:p.N624N exonic ENSG00000204947 NA synonymous SNV ENSG00000204947:ENST00000378061:exon4:c.C1872T:p.N624N NA NA 7q36.1 NA NA NA NA rs11525060 0.66 0.66 0.625 0.659145 0.6193 0.9067 0.6931 0.3487 0.8405 0.64 0.91 0.67 0.38 0.6831 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330635 NA NA 0.643605 0.417612 NA 0.674 NA 3.7206616 1280 2 233321836 233321836 G A intronic ALPI NA NA NA intronic ENSG00000163295 NA NA NA NA NA 2q37.1 NA NA NA NA rs2272422 0.09 0.09 0.086 0.0924521 0.1064 0.0804 0.0764 0.1074 0.0818 0.1 0.08 0.08 0.1 0.0909 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889137 NA NA 0.082093 0.103722 NA 0.109 NA 3.720607 1280 17 76198704 76198704 G T intronic AFMID NA NA NA intronic ENSG00000183077 NA NA NA NA NA 17q25.3 NA NA NA NA rs113668382 0.05 0.05 0.076 0.0419329 0.0845 0.002 0.0548 0.0106 0.0726 0.09 0.0017 0.07 0.02 0.0941 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09296 NA NA 0.101186 0.024318 NA 0.029 NA 3.720214 1280 20 36932798 36932798 C G intronic BPI NA NA NA ncRNA_intronic ENSG00000206249 NA NA NA NA NA 20q11.23 NA NA NA NA rs5741798 0.27 0.27 0.287 0.254393 0.2187 0.4167 0.304 0.1505 0.229 0.2 0.45 0.28 0.16 0.2139 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224265 NA NA 0.180581 0.17635 NA 0.217 NA 3.7201523 1280 19 45883554 45883554 C T intronic PPP1R13L NA NA NA intronic ENSG00000104881 NA NA NA NA NA 19q13.32 NA NA NA NA rs34004521 0.07 0.07 0.065 0.0766773 0.1312 0.0268 0.0648 0.0159 0.1626 0.13 0.03 0.06 0.03 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122774 NA NA 0.148649 0.03396 NA 0.094 NA 3.720151 1280 2 28824940 28824940 G A intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs67381370 0.29 0.29 0.277 0.275958 0.2803 0.3442 0.2363 0.2383 0.2802 0.29 0.33 0.23 0.29 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180453 NA NA NA NA NA 0.341 NA 3.7197 1280 2 207101093 207101093 A T intergenic GPR1,ZDBF2 dist=18322;dist=38430 NA NA ncRNA_exonic ENSG00000159186 NA NA NA NA NA 2q33.3 NA NA NA NA rs726166 0.29 0.29 0.323 0.303914 0.2803 0.2292 0.1916 0.4047 0.3487 0.28 0.23 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579333 NA NA NA NA NA 0.203 NA 3.7197 1280 9 85925309 85925309 T C intronic FRMD3 NA NA NA intronic ENSG00000172159 NA NA NA NA NA 9q21.32 NA NA NA NA rs11140018 0.26 0.26 0.25 0.247604 0.2803 0.3859 0.281 0.0953 0.2536 0.28 0.38 0.27 0.09 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679696 NA NA NA NA NA 0.174 NA 3.7197 1280 10 13233471 13233471 C T intronic MCM10 NA NA NA intronic ENSG00000065328 NA NA NA NA NA 10p13 NA NA NA NA rs7916762 0.28 0.28 0.279 0.281949 0.2803 0.4077 0.2032 0.2057 0.3129 0.28 0.41 0.21 0.2 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649419 NA NA NA NA NA 0.297 NA 3.7197 1280 19 8979112 8979112 G C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs73493609 0.3 0.3 0.292 0.350439 0.2803 0.4018 0.2795 0.2973 0.4918 0.27 0.35 0.27 0.31 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.823735 1.823735 NA NA NA NA 0.341 NA 3.7197 1280 19 48848702 48848702 C T intronic TMEM143 NA NA NA intronic ENSG00000161558 NA NA NA NA NA 19q13.33 NA NA NA NA rs17361438 0.17 0.17 NA 0.154553 0.2803 0.1369 0.2176 0.0386 0.1554 0.26 0.14 0.25 0.02 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822183 NA NA NA NA NA 0.188 NA 3.7197 1280 20 43534934 43534934 G A intronic YWHAB NA NA NA intronic ENSG00000166913 NA NA NA NA NA 20q13.12 NA NA NA NA rs2425675 0.25 0.25 0.235 0.239217 0.2803 0.2113 0.3545 0.1884 0.2127 0.28 0.22 0.35 0.17 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331063 NA NA NA NA NA 0.159 NA 3.7197 1280 20 47621554 47621554 G A intronic ARFGEF2 NA NA NA intronic ENSG00000124198 NA NA NA NA NA 20q13.13 NA NA NA NA rs4810910 0.37 0.37 0.339 0.373003 0.2803 0.4821 0.3977 0.357 0.3599 0.27 0.51 0.38 0.36 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310205 NA NA NA NA ID=COSN166562;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.493 NA 3.7197 1280 15 56720715 56720715 T G intronic TEX9 NA NA NA UTR3 ENSG00000151575 ENST00000560582:c.*73T>G NA NA NA NA 15q21.3 NA NA NA NA rs1554410 0.32 0.32 0.29 0.294928 0.4473 0.3433 0.353 0.09 0.3241 0.45 0.32 0.36 0.1 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255319 1.255319 NA NA NA NA 0.181 NA 3.7193667 1280 14 20216560 20216560 C T downstream OR4Q3 NA NA NA ncRNA_intronic ENSG00000258438 NA NA NA NA NA 14q11.2 NA NA NA NA rs12435367 0.08 0.08 0.062 0.102236 0.1471 0.0079 0.0764 0.0613 0.227 0.16 0.01 0.1 0.04 0.1483 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101866 NA NA 0.151986 0.073509 NA 0.058 NA 3.7192806 1280 5 68728544 68728544 G A intronic MARVELD2 NA NA NA intronic ENSG00000152939 NA NA NA NA NA 5q13.2 NA Name=SP1,IRF4_(M-17),BCL11A,NFKB,SRF NA NA rs299075 0.34 0.34 0.308 0.282149 0.4493 0.3909 0.2997 0.062 0.2832 0.46 0.39 0.37 0.06 0.3791 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429174 NA NA 0.452442 0.132093 NA 0.304 NA 3.719158 1280 11 55038375 55038375 T C UTR3 TRIM48 NM_024114:c.*464T>C NA NA UTR3 ENSG00000150244 ENST00000417545:c.*464T>C NA NA NA NA 11q11 NA NA NA NA rs3213870 0.57 0.57 0.543 0.581869 0.6143 0.7054 0.7104 0.3283 0.6728 0.61 0.71 0.69 0.25 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018253 NA 1 NA NA NA 0.471 NA 3.7190334 1280 5 145377423 145377423 T C intronic SH3RF2 NA NA NA ncRNA_exonic ENSG00000248493 NA NA NA NA NA 5q32 NA NA NA NA rs17426499 0.73 0.73 0.757 0.765974 0.6143 0.7212 0.6023 0.9902 0.7812 0.63 0.71 0.62 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.301513 NA NA NA NA NA 0.645 NA 3.7190333 1280 14 93398078 93398078 G A intronic CHGA NA NA NA intronic ENSG00000100604 NA NA NA NA NA 14q32.12 NA NA NA NA rs9658656 0.15 0.15 0.148 0.182308 0.0736 0.2391 0.1859 0.2156 0.1881 0.07 0.21 0.17 0.22 0.1243 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069753 NA NA 0.08314 0.178166 NA 0.174 NA 3.71896 1280 2 28854816 28854816 G A intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs2272388 0.24 0.24 0.224 0.23123 0.2813 0.3204 0.1758 0.1142 0.2853 0.29 0.29 0.18 0.14 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075654 NA NA NA NA NA 0.239 NA 3.7187 1280 3 87373695 87373695 C G intergenic POU1F1,HTR1F dist=47958;dist=658031 NA NA ncRNA_exonic ENSG00000239829 NA NA NA NA NA 3p11.2 NA NA NA NA rs78549143 0.25 0.25 0.18 0.252995 0.2813 0.3512 0.3184 0.0234 0.3865 0.3 0.34 0.33 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207617 NA NA NA NA NA 0.254 NA 3.7187 1280 3 125734272 125734272 G A intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs2279820 0.26 0.26 0.276 0.27516 0.2813 0.1825 0.2666 0.3563 0.2607 0.27 0.19 0.26 0.33 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.503444 2.503444 NA NA NA NA 0.261 NA 3.7187 1280 8 57390755 57390755 G A intergenic PENK,LOC100507632 dist=31473;dist=40123 NA NA ncRNA_intronic ENSG00000254254 NA NA NA NA NA 8q12.1 NA NA NA NA rs3824274 0.24 0.24 0.217 0.224241 0.2813 0.2321 0.353 0.1127 0.2168 0.28 0.23 0.31 0.13 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077258 NA NA NA NA NA 0.196 NA 3.7187 1280 12 103699685 103699685 C T intronic C12orf42 NA NA NA intronic ENSG00000179088 NA NA NA NA NA 12q23.2 NA NA NA NA rs7488867 0.37 0.37 0.351 0.388978 0.2813 0.2996 0.2752 0.5764 0.4192 0.28 0.32 0.29 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067844 NA NA NA NA NA 0.399 NA 3.7187 1280 12 133378610 133378610 G A intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs75002364 0.2 0.2 0.193 0.171925 0.2813 0.1716 0.1628 0.1225 0.1329 0.29 0.18 0.17 0.11 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327782 NA NA NA NA NA 0.217 NA 3.7187 1280 22 44564407 44564407 C T intronic PARVB NA NA NA intronic ENSG00000188677 NA NA NA NA NA 22q13.31 NA NA NA NA rs139096 0.21 0.21 0.194 0.22504 0.2813 0.1022 0.3213 0.1271 0.3579 0.28 0.11 0.33 0.15 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847747 NA NA NA NA NA 0.268 NA 3.7187 1280 7 150217248 150217248 A G exonic GIMAP7 NA synonymous SNV GIMAP7:NM_153236:exon2:c.A186G:p.V62V exonic ENSG00000179144 NA synonymous SNV ENSG00000179144:ENST00000313543:exon2:c.A186G:p.V62V NA NA 7q36.1 NA NA NA NA rs3735081 0.75 0.75 0.764 0.78155 0.6302 0.7421 0.7277 0.9713 0.7597 0.64 0.72 0.73 0.96 0.6926 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548755 NA NA 0.625233 0.914889 NA 0.833 NA 3.7186336 1280 12 50537060 50537060 C G intronic CERS5 NA NA NA ncRNA_intronic ENSG00000272368 NA NA NA NA NA 12q13.12 NA NA NA NA rs2277355 0.41 0.41 0.41 0.410743 0.2604 0.7232 0.4366 0.3056 0.3671 0.27 0.71 0.39 0.31 0.3544 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224119 NA NA NA NA NA 0.319 NA 3.7185333 1280 5 52368546 52368546 T C intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3212584 0.1 0.1 0.107 0.104233 0.0885 0.0317 0.0663 0.2035 0.0879 0.09 0.03 0.06 0.26 0.0971 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556791 NA NA 0.096301 0.181571 NA 0.101 NA 3.718099 1280 17 80574364 80574364 C A intronic WDR45B NA NA NA intronic ENSG00000141580 NA NA NA NA NA 17q25.3 NA NA NA NA rs2306757 0.16 0.16 0.177 0.182308 0.0855 0.2669 0.0533 0.2534 0.1902 0.09 0.25 0.06 0.26 0.1189 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646112 NA NA 0.077558 0.225374 NA 0.138 NA 3.718042 1280 2 113332421 113332421 T C intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA NA NA NA rs10169344 0.19 0.19 0.163 0.20627 0.0696 0.2927 0.2118 0.2769 0.1585 0.07 0.3 0.17 0.26 0.1348 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980546 NA NA 0.077674 0.245574 ID=COSM148929;OCCURENCE=1(stomach) 0.225 NA 3.717926 1280 12 31249708 31249708 C T intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs71455622 0.05 0.05 0.033 0.0397364 0.1014 0.002 0.0735 0.0098 0.0317 0.1 0.0017 0.07 0.02 0.0706 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350644 NA NA 0.110116 0.018384 NA 0.007 NA 3.717884 1280 3 170732599 170732599 G A intronic SLC2A2 NA NA NA intronic ENSG00000163581 NA NA NA NA NA 3q26.2 NA NA NA NA rs7356034 0.33 0.33 0.352 0.330871 0.2823 0.2093 0.3055 0.5234 0.2638 0.28 0.21 0.33 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284041 NA NA NA NA ID=COSN167072;OCCURENCE=1(large_intestine) 0.428 NA 3.7177 1280 6 112454185 112454185 A G intronic LAMA4 NA NA NA intronic ENSG00000112769 NA NA NA NA NA 6q21 NA NA NA NA rs764587 0.24 0.24 0.228 0.241014 0.2823 0.1131 0.2983 0.2436 0.2863 0.28 0.12 0.32 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032246 NA NA NA NA NA 0.312 NA 3.7177 1280 12 52712817 52712817 G A intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs3741717 0.37 0.37 0.355 0.359026 0.2823 0.506 0.3372 0.3525 0.3108 0.29 0.5 0.36 0.34 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365194 NA NA NA NA NA 0.203 NA 3.7177 1280 19 42261014 42261014 G A intronic CEACAM6 NA NA NA intronic ENSG00000086548,ENSG00000267881 NA NA NA NA NA 19q13.2 NA NA NA NA rs57827663 0.23 0.23 0.196 0.248403 0.2823 0.1062 0.2954 0.2421 0.3354 0.29 0.08 0.31 0.25 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386848 NA NA NA NA NA 0.413 NA 3.7177 1280 21 34985754 34985754 T C intronic CRYZL1 NA NA NA intronic ENSG00000205758,ENSG00000249209 NA NA NA NA NA 21q22.11 NA NA NA NA rs2276226 0.18 0.18 0.164 0.174321 0.2823 0.1637 0.2219 0.0461 0.2137 0.27 0.15 0.24 0.03 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509981 NA NA NA NA NA 0.072 NA 3.7177 1280 5 68720419 68720419 T G intronic MARVELD2 NA NA NA intronic ENSG00000152939 NA NA NA NA NA 5q13.2 NA NA NA NA rs299099 0.34 0.34 0.304 0.281749 0.4493 0.3909 0.2997 0.0598 0.2843 0.46 0.39 0.37 0.05 0.3807 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059201 NA NA 0.452326 0.127611 NA 0.297 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036810.1;CLNDSDB=.;CLNDSDBID=. 3.717674 1280 8 39463823 39463823 T C intronic ADAM18 NA NA NA intronic ENSG00000168619 NA NA NA Score=251;Name=lod=14 NA 8p11.22 NA NA NA NA rs13268577 0.28 0.28 0.246 0.272963 0.4384 0.1438 0.4121 0.1248 0.3374 0.44 0.15 0.4 0.11 0.3952 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601092 NA NA 0.448763 0.187869 NA 0.297 NA 3.717637 1280 6 39034095 39034095 C T intronic GLP1R NA NA NA intronic ENSG00000112164 NA NA NA NA NA 6p21.2 NA NA NA NA rs10305457 0.07 0.07 0.047 0.0688898 0.0815 0.006 0.1873 0.0386 0.0777 0.06 0.01 0.18 0.06 0.106 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974916 NA NA 0.094884 0.051521 NA 0.036 NA 3.717616 1280 2 61522123 61522123 T C exonic USP34 NA synonymous SNV USP34:NM_014709:exon32:c.A4422G:p.E1474E exonic ENSG00000115464 NA synonymous SNV ENSG00000115464:ENST00000398571:exon32:c.A4422G:p.E1474E Score=647;Name=lod=566 NA 2p15 NA NA NA NA rs13014347 0.99 0.99 0.988 0.994609 0.9791 1 0.9914 1 1 0.98 1 0.99 1 0.9879 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003372 NA NA 0.9822 0.996707 NA 0.993 NA 3.7174666 1280 19 9678748 9678748 T G intronic ZNF121 NA NA NA intronic ENSG00000197961 NA NA NA NA NA 19p13.2 NA NA NA NA rs12462832 0.12 0.12 0.111 0.156749 0.0815 0.0476 0.1455 0.264 0.2096 0.08 0.03 0.14 0.28 0.1173 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.532302 2.532302 NA 0.08376 0.212045 NA 0.087 NA 3.71744 1280 14 92136126 92136126 C G intronic CATSPERB NA NA NA intronic ENSG00000133962 NA NA NA NA NA 14q32.12 NA NA NA NA rs3742652 0.08 0.08 0.075 0.0690895 0.0974 0.0556 0.0778 0.0908 0.0184 0.09 0.05 0.09 0.1 0.0823 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589549 NA NA 0.103372 0.088743 NA 0.051 NA 3.716928 1280 17 67215712 67215712 C T exonic ABCA10 NA synonymous SNV ABCA10:NM_080282:exon7:c.G504A:p.V168V exonic ENSG00000154263 NA synonymous SNV ENSG00000154263:ENST00000518929:exon4:c.G504A:p.V168V,ENSG00000154263:ENST00000523419:exon4:c.G504A:p.V168V,ENSG00000154263:ENST00000522406:exon6:c.G504A:p.V168V,ENSG00000154263:ENST00000269081:exon7:c.G504A:p.V168V,ENSG00000154263:ENST00000416101:exon7:c.G504A:p.V168V,ENSG00000154263:ENST00000432313:exon7:c.G504A:p.V168V NA NA 17q24.3 NA NA NA NA rs12941264 0.55 0.55 0.54 0.598442 0.662 0.3462 0.6066 0.7133 0.6319 0.65 0.3 0.58 0.66 0.6294 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.213539 NA NA 0.65852 0.699501 NA 0.558 NA 3.7167466 1280 2 10566792 10566792 C G intronic HPCAL1 NA NA NA intronic ENSG00000115756 NA NA NA NA NA 2p25.1 NA NA NA NA rs2270306 0.17 0.17 0.172 0.173123 0.2833 0.0446 0.1599 0.1702 0.2055 0.26 0.03 0.17 0.19 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198999 NA NA NA NA NA 0.261 NA 3.7167 1280 4 74450830 74450830 G A intronic RASSF6 NA NA NA intronic ENSG00000169435 NA NA NA NA NA 4q13.3 NA NA NA NA rs7682201 0.25 0.25 0.235 0.263179 0.2833 0.1141 0.4712 0.2761 0.2311 0.28 0.11 0.41 0.25 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012502 NA NA NA NA NA 0.348 NA 3.7167 1280 7 129916325 129916325 C T intronic CPA2 NA NA NA intronic ENSG00000158516 NA NA NA NA NA 7q32.2 NA NA NA NA rs41274170 0.14 0.14 0.127 0.096246 0.2833 0.0079 0.1729 0.0098 0.0573 0.29 0.01 0.17 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603847 NA NA NA NA NA 0.167 NA 3.7167 1280 14 39855255 39855255 T C intergenic CTAGE5,FBXO33 dist=34858;dist=10322 NA NA ncRNA_exonic ENSG00000259100 NA NA NA NA NA 14q21.1 NA NA NA NA rs7145821 0.37 0.37 0.354 0.35024 0.2833 0.5258 0.2464 0.4175 0.2209 0.27 0.52 0.28 0.44 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652453 NA NA NA NA NA 0.333 NA 3.7167 1280 20 44673546 44673546 C G intronic SLC12A5 NA NA NA intronic ENSG00000124140 NA NA NA NA NA 20q13.12 NA NA NA NA rs2297197 0.24 0.24 0.191 0.23742 0.2833 0.2976 0.2262 0.1006 0.3211 0.28 0.27 0.27 0.11 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.799258 NA NA NA NA NA 0.21 NA 3.7167 1280 4 141549393 141549393 C A intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA NA NA 4q31.21 NA NA Name=6 NA rs2291711 0.69 0.69 0.668 0.699081 0.668 0.6319 0.7003 0.7648 0.7106 0.66 0.61 0.73 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288378 NA NA 0.615651 0.708092 NA 0.739 NA 3.716349 1280 6 109954252 109954252 C T exonic AK9 NA synonymous SNV AK9:NM_001145128:exon12:c.G1128A:p.L376L,AK9:NM_145025:exon12:c.G1128A:p.L376L exonic ENSG00000155085 NA synonymous SNV ENSG00000155085:ENST00000285397:exon12:c.G1128A:p.L376L,ENSG00000155085:ENST00000368948:exon12:c.G1128A:p.L376L,ENSG00000155085:ENST00000424296:exon12:c.G1128A:p.L376L NA NA 6q21 NA NA NA NA rs1406957 0.63 0.63 0.602 0.652157 0.6431 0.8472 0.7305 0.3238 0.8487 0.65 0.85 0.69 0.32 0.67 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91676 NA NA 0.637326 0.365865 ID=COSM450314,COSM450315;OCCURENCE=1(breast) 0.536 NA 3.7162406 1280 16 84900472 84900472 T C intronic CRISPLD2 NA NA NA intronic ENSG00000103196 NA NA NA NA NA 16q24.1 NA NA NA NA rs72799566 0.05 0.05 0.051 0.0477236 0.0954 0.002 0.0778 0.0159 0.0675 0.09 0.0017 0.09 0.02 0.0812 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805956 NA NA 0.107442 0.031378 NA 0.13 NA 3.715958 1280 9 33469406 33469406 C T intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA NA NA NA rs2777746 0.27 0.27 0.242 0.248802 0.2843 0.1796 0.3329 0.3154 0.1339 0.29 0.2 0.29 0.31 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.509097 NA NA NA NA ID=COSN168511;OCCURENCE=1(large_intestine) 0.304 NA 3.7157 1280 9 92020159 92020159 T C intronic SEMA4D NA NA NA intronic ENSG00000187764 NA NA NA NA NA 9q22.2 NA NA NA NA rs13287862 0.29 0.29 0.3 0.298123 0.2843 0.3095 0.2032 0.3631 0.2802 0.29 0.33 0.2 0.33 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092595 NA NA NA NA NA 0.319 NA 3.7157 1280 14 105686570 105686570 T C intronic BRF1 NA NA NA intronic ENSG00000185024 NA NA NA NA NA 14q32.33 NA NA NA NA rs8005486 0.33 0.33 0.335 0.338858 0.2843 0.0179 0.2997 0.8351 0.0828 0.28 0.02 0.29 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737232 NA NA NA NA NA 0.457 NA 3.7157 1280 16 3638809 3638809 G A intronic SLX4 NA NA NA intronic ENSG00000188827 NA NA NA NA NA 16p13.3 NA NA NA NA rs8058233 0.45 0.45 0.48 0.478634 0.2843 0.369 0.3386 0.8154 0.4356 0.29 0.39 0.36 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441532 NA NA NA NA NA 0.464 NA 3.7157 1280 9 35062972 35062972 C T intronic VCP NA NA NA intronic ENSG00000165280 NA NA NA Score=652;Name=lod=595 NA 9p13.3 Score=881;Name=V$SOX9_B1 NA NA NA rs514492 0.7 0.7 0.677 0.701078 0.7664 0.4534 0.8372 0.7383 0.7423 0.77 0.49 0.83 0.75 0.7442 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646731 NA NA 0.773837 0.731276 ID=COSM150600;OCCURENCE=1(stomach) 0.797 NA 3.715563 1280 17 73221439 73221439 C T exonic NUP85 NA synonymous SNV NUP85:NM_024844:exon9:c.C735T:p.P245P exonic ENSG00000125450 NA synonymous SNV ENSG00000125450:ENST00000579557:exon2:c.C138T:p.P46P,ENSG00000125450:ENST00000583877:exon3:c.C216T:p.P72P,ENSG00000125450:ENST00000447371:exon8:c.C231T:p.P77P,ENSG00000125450:ENST00000541827:exon8:c.C597T:p.P199P,ENSG00000125450:ENST00000579298:exon8:c.C600T:p.P200P,ENSG00000125450:ENST00000579324:exon8:c.C399T:p.P133P,ENSG00000125450:ENST00000245544:exon9:c.C735T:p.P245P Score=385;Name=lod=49 NA 17q25.1 NA NA NA NA rs2291029 0.9 0.9 0.884 0.86901 0.998 0.9018 0.9222 0.6868 0.911 1 0.95 0.93 0.66 0.9558 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.099438 2.099438 NA 0.997442 0.747844 NA 0.848 NA 3.7154246 1281 2 29344410 29344410 T A intronic CLIP4 NA NA NA intronic ENSG00000115295 NA NA NA NA NA 2p23.2 NA NA NA NA rs56075962 0.06 0.06 0.049 0.0429313 0.1103 NA 0.0504 0.0439 0.0112 0.11 NA 0.06 0.06 0.0768 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082468 NA NA 0.09814 0.060826 NA 0.043 NA 3.71476 1281 1 151679963 151679963 C T intronic CELF3 NA NA NA ncRNA_intronic ENSG00000227045 NA NA NA NA NA 1q21.3 NA NA NA NA rs2280473 0.2 0.2 0.175 0.178914 0.2058 0.2391 0.3098 0.0923 0.1135 0.2 0.23 0.3 0.11 0.2062 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496974 NA NA 0.206608 0.098093 ID=COSN163234;OCCURENCE=1(breast) 0.225 NA 3.7147253 1281 1 19200895 19200895 C T intronic ALDH4A1 NA NA NA intronic ENSG00000159423,ENSG00000255275 NA NA NA NA NA 1p36.13 NA NA NA NA rs35657817 0.24 0.24 0.248 0.22504 0.2853 0.003 0.2421 0.4244 0.1104 0.3 0.0017 0.28 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642072 NA NA NA NA NA 0.261 NA 3.7147 1281 3 31494993 31494993 C T intergenic GADL1,STT3B dist=558840;dist=79498 NA NA ncRNA_exonic ENSG00000227339 NA NA NA NA NA 3p23 NA NA NA NA rs9824199 0.46 0.46 0.444 0.460064 0.2853 0.6677 0.3602 0.5545 0.3691 0.27 0.68 0.38 0.55 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997923 NA NA NA NA NA 0.348 NA 3.7147 1281 10 126384610 126384610 G A intronic FAM53B NA NA NA intronic ENSG00000189319,ENSG00000258539 NA NA NA NA NA 10q26.13 NA NA NA NA rs10901807 0.21 0.21 0.226 0.173323 0.2853 0.2401 0.1455 0.0998 0.1084 0.29 0.23 0.17 0.11 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735711 NA NA NA NA NA 0.174 NA 3.7147 1281 18 22049016 22049016 G A intronic HRH4 NA NA NA intronic ENSG00000134489 NA NA NA NA NA 18q11.2 NA NA NA NA rs17797951 0.18 0.18 0.18 0.183906 0.2853 0.1597 0.1844 0.0234 0.3211 0.27 0.16 0.2 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108058 NA NA NA NA NA 0.152 NA 3.7147 1281 20 42157237 42157237 C T intronic L3MBTL1 NA NA NA intronic ENSG00000185513 NA NA NA NA NA 20q13.12 NA NA NA NA rs2071972 0.37 0.37 0.39 0.359625 0.2853 0.2688 0.3847 0.5166 0.2996 0.28 0.29 0.38 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182215 NA NA NA NA NA 0.326 NA 3.7147 1281 5 678062 678062 A G exonic TPPP NA synonymous SNV TPPP:NM_007030:exon2:c.T114C:p.A38A exonic ENSG00000171368 NA synonymous SNV ENSG00000171368:ENST00000360578:exon2:c.T114C:p.A38A NA NA 5p15.33 NA NA NA NA rs450628 0.71 0.71 0.669 0.754193 0.6451 0.6647 0.7003 0.9682 0.7076 0.64 0.61 0.7 0.96 0.6676 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564511 NA NA 0.639581 0.922131 NA 0.623 NA 3.7143856 1281 12 124102893 124102893 G A intronic DDX55 NA NA NA UTR5 ENSG00000111364 ENST00000421670:c.-338G>A NA NA NA NA 12q24.31 NA NA NA NA rs71458808 0.14 0.14 0.12 0.141773 0.2485 0.0119 0.1427 0.1059 0.2137 0.25 0.01 0.15 0.11 0.2039 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58805 NA NA NA NA NA 0.109 NA 3.7142667 1281 9 433978 433978 A G intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA Score=522;Name=lod=176 NA 9p24.3 Score=919;Name=V$AREB6_01 NA NA NA rs2360712 0.76 0.76 0.738 0.721046 0.7704 0.9772 0.8156 0.4766 0.6697 0.78 0.98 0.8 0.46 0.7588 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.004002 2.004002 NA 0.756628 0.515433 NA 0.667 NA 3.714172 1281 19 35978299 35978299 C T UTR3 KRTDAP NM_207392:c.*31G>A,NM_001244847:c.*31G>A NA NA UTR3 ENSG00000188508 ENST00000484218:c.*31G>A,ENST00000338897:c.*31G>A NA NA NA NA 19q13.12 NA NA NA NA rs7976 0.12 0.12 0.105 0.109225 0.2266 0.0109 0.1095 0.0961 0.1074 0.22 0.01 0.12 0.11 0.1704 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180115 NA NA 0.222209 0.113936 NA 0.123 NA 3.7141244 1281 19 10271034 10271034 C G intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs2241531 0.23 0.23 0.214 0.236022 0.0726 0.4018 0.1888 0.2511 0.2464 0.07 0.42 0.18 0.27 0.1474 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565034 NA NA 0.06593 0.192238 ID=COSN165718;OCCURENCE=1(breast) 0.246 NA 3.71407 1281 6 7601776 7601776 G A intronic SNRNP48 NA NA NA intronic ENSG00000168566 NA NA NA NA NA 6p24.3 NA NA NA NA rs7739209 0.12 0.12 0.128 0.1248 0.0964 NA 0.0706 0.3517 0.0143 0.09 NA 0.07 0.35 0.0965 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97491 NA NA 0.093161 0.30867 NA 0.21 NA 3.713939 1281 2 174227876 174227876 A G intronic CDCA7 NA NA NA intronic ENSG00000144354 NA NA NA NA NA 2q31.1 NA NA NA NA rs767074 0.35 0.35 0.358 0.377196 0.2863 0.3036 0.2709 0.5318 0.4131 0.29 0.31 0.3 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062136 NA NA NA NA NA 0.362 NA 3.7137 1281 17 6943266 6943266 G A exonic SLC16A13 NA synonymous SNV SLC16A13:NM_201566:exon4:c.G1266A:p.G422G exonic ENSG00000174327 NA synonymous SNV ENSG00000174327:ENST00000308027:exon4:c.G1266A:p.G422G NA NA 17p13.1 NA NA NA NA rs4796576 0.61 0.61 0.616 0.559704 0.667 0.7758 0.4784 0.4213 0.4714 0.67 0.76 0.5 0.44 0.616 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.361312 NA NA 0.670349 0.456423 NA 0.435 NA 3.7133176 1281 4 110454861 110454861 C G intronic SEC24B NA NA NA intronic ENSG00000138802 NA NA NA NA NA 4q25 NA NA NA NA rs34133579 0.04 0.04 0.055 0.0497204 0.0934 NA 0.0519 0.0287 0.0828 0.09 NA 0.06 0.02 0.086 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644245 NA NA 0.107327 0.039401 NA 0.08 NA 3.713273 1281 2 28827644 28827644 A G intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs36116681 0.06 0.06 0.049 0.038139 0.1054 NA 0.0634 0.0061 0.0337 0.11 NA 0.09 0.01 0.0739 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511413 NA NA 0.107442 0.020881 NA 0.007 NA 3.713258 1281 22 50901259 50901259 G C intronic SBF1 NA NA NA intronic ENSG00000100241 NA NA NA NA NA 22q13.33 NA NA NA NA rs9617014 0.21 0.21 NA 0.135982 0.1461 0.2758 0.1931 0.0613 0.0419 0.2 0.31 0.23 0.09 0.1407 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568401 NA NA NA NA NA 0.08 NA 3.7132 1281 16 69458779 69458779 G A intronic CYB5B NA NA NA intronic ENSG00000103018 NA NA NA NA NA 16q22.1 NA Name=ETS1,IRF4_(M-17),Pol2,ELK4 NA NA rs1619397 0.36 0.36 0.33 0.324281 0.4523 0.2569 0.4683 0.1891 0.3425 0.45 0.26 0.48 0.24 0.4048 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.86872 2.86872 NA 0.429734 0.210227 NA 0.326 NA 3.713166 1281 2 37255806 37255806 C T intronic HEATR5B NA NA NA intronic ENSG00000008869 NA NA NA NA NA 2p22.2 NA NA NA NA rs17020143 0.19 0.19 0.182 0.175519 0.0815 0.5188 0.1614 0.0068 0.1564 0.08 0.52 0.13 0.0041 0.1294 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544278 NA NA 0.076047 0.020436 ID=COSN166067;OCCURENCE=1(breast) 0.13 NA 3.713053 1281 14 95898487 95898487 G A intronic SYNE3 NA NA NA intronic ENSG00000176438 NA NA NA NA NA 14q32.13 NA NA Name=66 NA rs1187747 NA NA NA 0.428714 0.6342 0.2867 0.366 0.326 0.547 NA NA NA NA 0.6528 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807392 NA NA NA NA NA 0.5 NA 3.713 1281 3 30032530 30032530 A G intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs2197896 0.32 0.32 0.324 0.380192 0.0507 0.3423 0.268 0.8048 0.2638 0.05 0.33 0.25 0.79 0.1839 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721244 NA NA 0.052558 0.6936 ID=COSN166833;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.275 NA 3.712842 1281 1 31418119 31418119 C T intronic PUM1 NA NA NA intronic ENSG00000134644 NA NA NA NA NA 1p35.2 NA NA NA NA rs12142833 0.2 0.2 0.176 0.194089 0.2873 0.004 0.33 0.177 0.2209 0.29 0.0035 0.31 0.19 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139585 NA NA NA NA NA 0.261 NA 3.7127 1281 6 13794044 13794044 T C intronic MCUR1 NA NA NA intronic ENSG00000050393 NA NA NA NA NA 6p23 NA NA NA NA rs6922822 0.32 0.32 0.323 0.311901 0.2873 0.3849 0.2017 0.3759 0.2536 0.29 0.38 0.22 0.37 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337226 NA NA NA NA NA 0.319 NA 3.7127 1281 6 160663230 160663230 T C intronic SLC22A2 NA NA NA intronic ENSG00000112499 NA NA NA NA NA 6q25.3 NA NA NA NA rs17588242 0.14 0.14 0.123 0.107228 0.2873 0.001 0.1715 0.0189 0.1053 0.29 NA 0.2 0.03 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724345 NA NA NA NA NA 0.123 NA 3.7127 1281 7 35050227 35050227 C T intronic DPY19L1 NA NA NA intronic ENSG00000173852 NA NA NA NA NA 7p14.2 NA NA NA NA rs328939 0.22 0.22 0.185 0.217652 0.2873 0.1329 0.2536 0.2057 0.2239 0.27 0.13 0.26 0.22 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178949 NA NA NA NA NA 0.297 NA 3.7127 1281 7 50694429 50694429 G A intronic GRB10 NA NA NA intronic ENSG00000106070 NA NA NA NA NA 7p12.1 NA NA NA NA rs2074778 0.39 0.39 0.395 0.403954 0.2873 0.378 0.3602 0.6089 0.3047 0.28 0.36 0.36 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928336 NA NA NA NA NA 0.42 NA 3.7127 1281 7 134878237 134878237 G C intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA NA NA NA rs2278128 0.23 0.23 0.213 0.228235 0.2873 0.1776 0.1412 0.3041 0.1789 0.28 0.17 0.15 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435358 NA NA NA NA NA 0.203 NA 3.7127 1281 15 75692303 75692303 A C intronic SIN3A NA NA NA intronic ENSG00000169375 NA NA NA NA NA 15q24.2 NA NA NA NA rs4886699 0.41 0.41 0.433 0.416134 0.2873 0.4444 0.255 0.5915 0.3967 0.27 0.49 0.29 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119058 NA NA NA NA NA 0.319 NA 3.7127 1281 21 41143246 41143246 G C intronic IGSF5 NA NA NA intronic ENSG00000183067 NA NA NA NA NA 21q22.2 NA NA NA NA rs62237180 0.13 0.13 0.097 0.101637 0.2873 NA 0.1412 0.0121 0.1084 0.27 NA 0.16 0.02 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225268 NA NA NA NA NA 0.13 NA 3.7127 1281 22 24158899 24158899 C A intronic SMARCB1 NA NA NA intronic ENSG00000099956 NA NA NA NA NA 22q11.23 NA NA NA NA rs2070457 0.31 0.31 0.329 0.271366 0.2873 0.3185 0.2334 0.3306 0.1534 0.31 0.33 0.23 0.35 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275553 NA NA NA NA NA 0.355 NA 3.7127 1281 21 44515504 44515504 T C intronic U2AF1 NA NA NA intronic ENSG00000160201 NA NA NA NA NA 21q22.3 NA Name=Pol2,Pol2(b),Pol2-4H8 NA NA rs4920040 0.37 0.37 0.375 0.375799 0.4046 0.0873 0.536 0.5514 0.2924 0.39 0.1 0.51 0.55 0.4234 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782692 NA NA 0.459651 0.533591 NA 0.493 NA 3.712349 1281 7 20420270 20420270 T A intronic ITGB8 NA NA NA intronic ENSG00000105855 NA NA NA NA NA 7p21.1 NA NA NA NA rs17142761 0.18 0.18 0.176 0.154952 0.0845 0.4048 0.072 0.0991 0.1043 0.09 0.41 0.09 0.11 0.1161 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230285 NA NA 0.087209 0.118475 NA 0.123 NA 3.712191 1281 3 187440506 187440506 C A ncRNA_intronic LOC100131635 NA NA NA intronic ENSG00000113916,ENSG00000228804 NA NA NA NA NA 3q27.3 NA NA NA NA rs1005099 0.54 0.54 0.478 0.502796 0.6213 0.7411 0.5893 0.0666 0.6636 0.61 0.78 0.59 0.12 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1862 NA NA NA NA NA 0.551 NA 3.7120333 1281 5 172512686 172512686 C T intronic CREBRF NA NA NA ncRNA_intronic ENSG00000253439 NA NA NA NA NA 5q35.1 NA NA NA NA rs671387 0.42 0.42 0.344 0.361422 0.6213 0.1706 0.4193 0.3011 0.3313 0.63 0.16 0.47 0.35 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443296 NA NA NA NA NA 0.312 NA 3.7120333 1281 12 57493727 57493727 T G intronic STAT6 NA NA NA intronic ENSG00000166888 NA NA NA NA NA 12q13.3 NA NA NA NA rs3024971 0.08 0.08 0.078 0.0684904 0.1074 0.0873 0.0893 0.0348 0.0399 0.1 0.06 0.11 0.06 0.0773 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.000334 NA NA 0.103488 0.04562 NA 0.036 NA 3.711812 1281 1 26887150 26887150 A G intronic RPS6KA1 NA NA NA intronic ENSG00000117676 NA NA NA NA NA 1p36.11 NA NA NA NA rs34062688 0.47 0.47 0.465 0.511382 0.2883 0.7599 0.366 0.5083 0.592 0.29 0.74 0.35 0.5 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216004 NA NA NA NA NA 0.384 NA 3.7117 1281 2 27449293 27449293 C G intronic CAD NA NA NA intronic ENSG00000084774 NA NA NA NA NA 2p23.3 NA NA NA NA rs7593448 0.39 0.39 0.411 0.473243 0.2883 0.1498 0.4726 0.9047 0.4141 0.28 0.11 0.42 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010425 NA NA NA NA NA 0.551 NA 3.7117 1281 2 47612224 47612224 C T intronic EPCAM NA NA NA intronic ENSG00000119888 NA NA NA NA NA 2p21 NA NA NA NA rs7584256 0.37 0.37 0.376 0.360823 0.2883 0.5615 0.2666 0.3525 0.3067 0.29 0.54 0.25 0.37 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321912 NA NA NA NA NA 0.312 NA 3.7117 1281 2 118575468 118575468 C T intronic DDX18 NA NA NA intronic ENSG00000088205 NA NA NA NA NA 2q14.1 NA NA NA NA rs6737733 0.3 0.3 0.289 0.348642 0.2883 0.1726 0.2262 0.5378 0.4233 0.28 0.15 0.24 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.148042 NA NA NA NA NA 0.413 NA 3.7117 1281 4 186559109 186559109 T C intronic SORBS2 NA NA NA intronic ENSG00000154556 NA NA NA NA NA 4q35.1 NA NA NA NA rs2306707 0.21 0.21 0.193 0.188498 0.2883 0.123 0.2637 0.1838 0.1063 0.28 0.1 0.27 0.18 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280416 NA NA NA NA NA 0.181 NA 3.7117 1281 5 176895030 176895030 C T intronic DBN1 NA NA NA intronic ENSG00000113758 NA NA NA NA NA 5q35.3 NA NA NA NA rs28557366 0.19 0.19 0.139 0.156749 0.2883 0.0734 0.1715 0.1339 0.1278 0.29 0.06 0.2 0.17 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220609 NA NA NA NA NA NA NA 3.7117 1281 16 69356695 69356695 A G intronic VPS4A NA NA NA intronic ENSG00000132612 NA NA NA NA NA 16q22.1 NA NA NA NA rs11075714 0.24 0.24 0.227 0.283147 0.2883 0.0853 0.2767 0.3805 0.3548 0.27 0.1 0.26 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548771 NA NA NA NA NA 0.181 NA 3.7117 1281 19 1792190 1792190 A C intronic ATP8B3 NA NA NA intronic ENSG00000130270 NA NA NA NA NA 19p13.3 NA NA NA NA rs2286004 0.34 0.34 0.303 0.330072 0.2883 0.4534 0.3084 0.2776 0.3323 0.29 0.45 0.3 0.33 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438873 NA NA NA NA NA 0.254 NA 3.7117 1281 5 149914401 149914401 T C intronic NDST1 NA NA NA intronic ENSG00000070614 NA NA NA NA NA 5q33.1 NA NA Name=7 NA rs2545341 0.68 0.68 0.677 NA NA NA NA NA NA 0.65 0.65 0.68 0.77 0.658 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167356 NA NA 0.630581 0.750567 ID=COSN167614;OCCURENCE=1(large_intestine) 0.616 NA 3.711419 1281 1 205814695 205814695 A G intronic PM20D1 NA NA NA intronic ENSG00000162877 NA NA NA NA NA 1q32.1 NA NA NA NA rs71633564 0.16 0.16 0.157 0.160543 0.1004 0.4206 0.0634 0.0514 0.1708 0.1 0.42 0.06 0.04 0.11 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.647025 3.647025 NA 0.078372 0.061053 NA 0.087 NA 3.711228 1281 11 26692811 26692811 C G intronic SLC5A12 NA NA NA intronic ENSG00000148942 NA NA NA NA NA 11p14.2 NA NA NA NA rs7128731 0.12 0.12 0.119 0.146965 0.0954 0.1438 0.0937 0.2035 0.1646 0.1 0.1 0.09 0.21 0.1102 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.280983 1.280983 NA 0.083476 0.172144 NA 0.058 NA 3.710924 1281 5 127636485 127636485 C T intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA NA NA 5q23.3 NA NA NA NA rs28763934 0.08 0.08 0.081 0.0814696 0.0954 0.0655 0.0663 0.0613 0.1217 0.09 0.06 0.09 0.08 0.0906 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.840878 1.840878 NA 0.10314 0.064685 NA 0.065 NA 3.71086 1281 7 130144943 130144943 G C UTR3 MEST NM_177524:c.*46G>C,NM_001253901:c.*46G>C,NM_001253902:c.*46G>C,NM_177525:c.*46G>C,NM_002402:c.*46G>C,NM_001253900:c.*46G>C NA NA UTR3 ENSG00000106484 ENST00000341441:c.*46G>C,ENST00000378576:c.*46G>C,ENST00000416162:c.*46G>C,ENST00000393187:c.*46G>C,ENST00000223215:c.*46G>C,ENST00000437945:c.*99G>C,ENST00000463263:c.*46G>C NA NA Score=433;Name=lod=77 NA 7q32.2 NA NA NA NA rs1050582 0.48 0.48 0.43 0.466254 0.5547 0.6121 0.5519 0.2126 0.5072 0.52 0.62 0.51 0.21 0.5163 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.068098 2.068098 NA 0.551512 0.270767 NA 0.471 NA 3.7108214 1281 2 48685417 48685417 T C intronic PPP1R21 NA NA NA intronic ENSG00000162869 NA NA NA NA NA 2p16.3 NA NA NA NA rs75289760 0.05 0.05 0.048 0.0305511 0.1103 NA 0.0476 0.0023 0.0061 0.12 NA 0.07 0.002 0.0747 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316518 NA NA 0.104186 0.024739 NA 0.022 NA 3.710814 1281 1 210686614 210686614 A G intronic HHAT NA NA NA intronic ENSG00000054392 NA NA NA NA NA 1q32.2 NA NA NA NA rs12142231 0.08 0.08 0.084 0.104233 0.1392 0.0823 0.0764 0.0083 0.2403 0.14 0.08 0.08 0.01 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373376 NA NA 0.150095 0.026734 NA 0.145 NA 3.710705 1281 1 205768309 205768309 C T intronic SLC41A1 NA NA NA intronic ENSG00000133065 NA NA NA NA NA 1q32.1 NA NA NA NA rs4396169 0.28 0.28 0.271 0.28774 0.2893 0.499 0.1931 0.0711 0.4284 0.29 0.5 0.17 0.1 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.520159 3.520159 NA NA NA NA 0.203 NA 3.7107 1281 2 8910717 8910717 T C intronic KIDINS220 NA NA NA intronic ENSG00000134313 NA NA NA NA NA 2p25.1 NA NA NA NA rs10929557 0.26 0.26 0.273 0.267372 0.2893 0.1736 0.2579 0.329 0.2648 0.29 0.17 0.25 0.31 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.535862 2.535862 NA NA NA NA 0.399 NA 3.7107 1281 2 28821739 28821739 T G intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs7573845 0.3 0.3 0.272 0.275759 0.2893 0.4028 0.2305 0.1831 0.2883 0.3 0.39 0.22 0.23 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144989 NA NA NA NA NA 0.326 NA 3.7107 1281 3 170724883 170724883 T C intronic SLC2A2 NA NA NA intronic ENSG00000163581 NA NA NA NA NA 3q26.2 NA NA NA NA rs8192675 0.39 0.39 0.433 0.41234 0.2893 0.2361 0.3127 0.7867 0.2853 0.29 0.24 0.33 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929497 NA NA NA NA NA 0.507 NA 3.7107 1281 6 42890602 42890602 A G intronic PTCRA NA NA NA intronic ENSG00000171611 NA NA NA NA NA 6p21.1 NA NA NA NA rs9462851 0.23 0.23 0.25 0.240615 0.2893 0.0238 0.2133 0.4002 0.2178 0.28 0.03 0.23 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335158 1.335158 NA NA NA NA 0.254 NA 3.7107 1281 7 105122960 105122960 T C intronic PUS7 NA NA NA intronic ENSG00000091127 NA NA NA NA NA 7q22.3 NA NA NA NA rs818468 0.3 0.3 0.279 0.340056 0.2893 0.1329 0.281 0.5363 0.3824 0.31 0.11 0.28 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475052 NA NA NA NA NA 0.326 NA 3.7107 1281 7 157931263 157931263 G C intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs3752371 0.37 0.37 0.351 0.334265 0.2893 0.4663 0.428 0.3048 0.2178 0.29 0.53 0.36 0.32 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137649 NA NA NA NA NA 0.355 NA 3.7107 1281 9 140693181 140693181 G A intronic EHMT1 NA NA NA intronic ENSG00000181090 NA NA NA NA NA 9q34.3 NA NA NA NA rs4876947 0.25 0.25 0.228 0.258986 0.2893 0.126 0.4784 0.1573 0.3466 0.29 0.12 0.49 0.18 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489822 NA NA NA NA NA 0.355 NA 3.7107 1281 11 62098726 62098726 C T intergenic SCGB1D4,ASRGL1 dist=32190;dist=6048 NA NA ncRNA_exonic ENSG00000255213 NA NA NA NA NA 11q12.3 NA NA NA NA rs7130122 0.27 0.27 0.256 0.282348 0.2893 0.2331 0.2752 0.2526 0.3712 0.29 0.27 0.25 0.26 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907877 NA NA NA NA NA 0.268 NA 3.7107 1281 11 62099066 62099066 G A intergenic SCGB1D4,ASRGL1 dist=32530;dist=5708 NA NA ncRNA_exonic ENSG00000255213 NA NA NA NA NA 11q12.3 NA NA NA NA rs12283977 0.27 0.27 0.244 0.282348 0.2893 0.2331 0.2752 0.2526 0.3712 0.29 0.27 0.25 0.26 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419567 NA NA NA NA NA 0.268 NA 3.7107 1281 19 17317252 17317252 A G intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA NA NA NA rs2279002 0.5 0.5 0.424 0.503794 0.2893 0.745 0.611 0.4493 0.4734 0.3 0.78 0.58 0.43 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095881 NA NA NA NA NA 0.58 NA 3.7107 1281 21 47860217 47860217 C T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2073377 0.28 0.28 0.25 0.292133 0.2893 0.379 0.3458 0.1634 0.3415 0.28 0.34 0.33 0.18 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169561 NA NA NA NA NA 0.239 NA 3.7107 1281 12 124177289 124177289 T C intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA NA NA rs7137946 0.41 0.41 0.418 0.445487 0.4175 0.1498 0.3444 0.7481 0.4417 0.42 0.12 0.36 0.74 0.4281 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196997 NA NA 0.443721 0.716977 NA 0.37 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114224.2;CLNDSDB=.;CLNDSDBID=. 3.710679 1281 7 154587512 154587512 G A intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs66486366 NA NA 0.045 NA NA NA NA NA NA NA NA NA NA 0.2896 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.884489 NA NA NA NA NA 0.014 NA 3.7104 1281 11 120007889 120007889 G T intronic TRIM29 NA NA NA intronic ENSG00000137699 NA NA NA NA NA 11q23.3 NA NA Name=4 NA rs470645 0.4 0.4 0.374 0.402556 0.4274 0.244 0.4179 0.5091 0.3855 0.42 0.27 0.45 0.48 0.4376 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267604 NA NA 0.424662 0.495913 NA 0.522 NA 3.710338 1281 1 115112597 115112597 A T intronic BCAS2 NA NA NA intronic ENSG00000116752 NA NA NA NA NA 1p13.2 NA NA NA NA rs72698020 0.05 0.05 0.048 0.0519169 0.0944 0.0218 0.0605 0.0076 0.093 0.09 0.02 0.08 0.02 0.0933 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.056487 2.056487 NA 0.102024 0.024069 NA 0.036 NA 3.710276 1281 1 167887642 167887642 C T intronic MPC2 NA NA NA intronic ENSG00000143158 NA NA NA NA NA 1q24.2 NA NA NA NA rs10918798 0.1 0.1 0.093 0.115815 0.1093 0.001 0.0821 0.2738 0.0511 0.1 NA 0.09 0.23 0.091 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412553 NA NA 0.089756 0.227811 NA 0.101 NA 3.709944 1281 20 13847420 13847420 A G exonic SEL1L2 NA synonymous SNV SEL1L2:NM_001271539:exon15:c.T1332C:p.L444L exonic ENSG00000101251 NA synonymous SNV ENSG00000101251:ENST00000284951:exon15:c.T1332C:p.L444L,ENSG00000101251:ENST00000378072:exon15:c.T1332C:p.L444L NA NA 20p12.1 Score=861;Name=V$YY1_01 NA NA NA rs660710 1 1 0.996 0.993411 0.9831 1 0.9971 0.9932 0.9949 0.99 1 1 1 0.9892 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090657 NA NA 0.984619 0.992996 NA 0.978 NA 3.7097476 1281 2 113875753 113875753 C G intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs4251969 0.18 0.18 0.151 0.185903 0.2903 0.1101 0.3213 0.0174 0.2883 0.29 0.09 0.31 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435212 NA NA NA NA NA 0.232 NA 3.7097 1281 2 113875773 113875773 A G intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs4251970 0.18 0.18 0.152 0.186102 0.2903 0.1101 0.3228 0.0174 0.2883 0.29 0.09 0.31 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402532 NA NA NA NA NA 0.232 NA 3.7097 1281 5 98232809 98232809 T C intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q21.1 NA NA NA NA rs326468 0.3 0.3 0.329 0.303115 0.2903 0.0427 0.2392 0.6331 0.184 0.28 0.05 0.27 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793534 NA NA NA NA NA 0.37 NA 3.7097 1281 7 47920483 47920483 G T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs79012260 0.25 0.25 NA 0.335663 0.2903 0.0942 0.3473 0.5673 0.3098 0.23 0.07 0.31 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182793 NA NA NA NA NA NA NA 3.7097 1281 3 52847544 52847544 C A intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs17331178 0.07 0.07 0.055 0.0523163 0.1014 0.0437 0.1066 0.0106 0.0286 0.11 0.04 0.13 0.01 0.0812 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339484 NA NA 0.107791 0.021562 NA 0.138 NA 3.709609 1281 13 20025375 20025375 A G intronic TPTE2 NA NA NA intronic ENSG00000132958 NA NA NA NA NA 13q12.11 NA NA NA NA rs4554999 0.1 0.1 0.073 0.0960463 0.1123 0.0704 0.0648 0.1505 0.0542 0.11 0.05 0.07 0.15 0.0904 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540394 NA NA 0.087811 0.150477 NA 0.217 NA 3.709489 1281 7 16505341 16505341 T C UTR5 SOSTDC1 NM_015464:c.-48A>G NA NA UTR5 ENSG00000171243 ENST00000307068:c.-48A>G,ENST00000396652:c.-48A>G NA NA Score=696;Name=lod=896 NA 7p21.1 NA NA Name=58 NA rs6945425 0.9 0.9 0.891 0.88119 0.8807 0.9018 0.9236 0.8888 0.82 0.88 0.93 0.92 0.87 0.8788 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.098893 NA NA 0.864419 0.900136 NA 0.928 NA 3.7094144 1281 14 25101706 25101706 G T intronic GZMB NA NA NA ncRNA_intronic ENSG00000258657 NA NA NA NA NA 14q12 NA NA NA NA rs10873219 0.19 0.19 0.194 0.209665 0.2227 0.1925 0.1657 0.2027 0.2546 0.22 0.16 0.17 0.17 0.1991 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345804 NA NA 0.202326 0.200862 NA 0.203 NA 3.7092073 1281 21 19167479 19167479 T C intronic C21orf91 NA NA NA ncRNA_intronic ENSG00000244676 NA NA NA NA NA 21q21.1 NA NA NA NA rs2258119 0.28 0.28 0.297 0.282348 0.1948 0.3988 0.2594 0.3336 0.1994 0.2 0.38 0.24 0.33 0.2265 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074522 NA NA 0.202861 0.312704 NA 0.377 NA 3.7091723 1281 17 73279624 73279624 A G exonic SLC25A19 NA synonymous SNV SLC25A19:NM_001126122:exon4:c.T339C:p.Y113Y,SLC25A19:NM_001126121:exon5:c.T339C:p.Y113Y,SLC25A19:NM_021734:exon5:c.T339C:p.Y113Y exonic ENSG00000125454 NA synonymous SNV ENSG00000125454:ENST00000402418:exon3:c.T339C:p.Y113Y,ENSG00000125454:ENST00000580273:exon3:c.T36C:p.Y12Y,ENSG00000125454:ENST00000442286:exon4:c.T339C:p.Y113Y,ENSG00000125454:ENST00000416858:exon5:c.T339C:p.Y113Y,ENSG00000125454:ENST00000579207:exon5:c.T339C:p.Y113Y,ENSG00000125454:ENST00000580151:exon5:c.T339C:p.Y113Y,ENSG00000125454:ENST00000580994:exon5:c.T339C:p.Y113Y,ENSG00000125454:ENST00000583332:exon5:c.T339C:p.Y113Y,ENSG00000125454:ENST00000320362:exon6:c.T339C:p.Y113Y NA NA 17q25.1 NA NA NA NA rs7213318 0.91 0.91 0.908 0.889577 0.999 0.9008 0.9236 0.7579 0.9192 1 0.94 0.93 0.73 0.9617 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017272 NA NA 0.99686 0.817295 NA 0.877 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118368.2;CLNDSDB=.;CLNDSDBID=. 3.7091066 1281 17 41006760 41006760 G A intronic AOC3 NA NA NA intronic ENSG00000131471 NA NA NA NA NA 17q21.31 NA NA NA NA rs34908272 0.05 0.05 0.06 0.048722 0.1133 NA 0.0504 0.0091 0.0849 0.12 NA 0.06 0.02 0.0792 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017172 NA NA 0.09841 0.021223 NA 0.109 NA 3.70909 1281 3 183777210 183777210 C T intronic HTR3C NA NA NA intronic ENSG00000178084 NA NA NA NA NA 3q27.1 NA NA NA NA rs56244916 0.06 0.06 0.057 0.0593051 0.1093 0.0169 0.062 0.034 0.0838 0.11 0.02 0.06 0.02 0.0845 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783344 NA NA 0.097442 0.048343 NA 0.051 NA 3.708758 1281 6 29769280 29769280 C T intergenic LOC554223,HLA-G dist=3696;dist=25476 NA NA ncRNA_exonic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs1610653 0.31 0.31 0.346 0.341853 0.2913 0.1875 0.2983 0.5113 0.3548 0.28 0.22 0.28 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.438714 NA NA NA NA NA 0.362 NA 3.7087 1281 7 150444383 150444383 T G intergenic GIMAP1-GIMAP5,TMEM176B dist=3646;dist=43993 NA NA ncRNA_exonic ENSG00000177590 NA NA NA NA NA 7q36.1 NA NA NA NA rs6972456 0.27 0.27 0.249 0.302316 0.2913 0.0883 0.2579 0.4448 0.3732 0.28 0.1 0.28 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180414 NA NA NA NA NA 0.333 NA 3.7087 1281 9 107581749 107581749 A C intronic ABCA1 NA NA NA intronic ENSG00000165029 NA NA NA NA NA 9q31.1 NA NA NA NA rs2254884 0.3 0.3 0.291 0.283347 0.2913 0.5724 0.2507 0.0779 0.2781 0.26 0.53 0.27 0.09 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729458 NA NA NA NA NA 0.261 NA 3.7087 1281 11 76750406 76750406 A C intronic B3GNT6 NA NA NA intronic ENSG00000198488 NA NA NA NA NA 11q13.5 NA NA NA NA rs12422079 0.29 0.29 0.294 0.258586 0.2913 0.2212 0.2421 0.351 0.1503 0.27 0.24 0.28 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39208 NA NA NA NA NA 0.225 NA 3.7087 1281 12 111296320 111296320 A G intronic CCDC63 NA NA NA intronic ENSG00000173093 NA NA NA NA NA 12q24.11 NA NA NA NA rs11065734 0.29 0.29 0.257 0.28754 0.2913 0.496 0.232 0.0658 0.408 0.29 0.5 0.27 0.07 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396252 NA NA NA NA NA 0.239 NA 3.7087 1281 14 24772829 24772829 A T intronic NOP9 NA NA NA intronic ENSG00000196943 NA NA NA NA NA 14q12 NA NA NA NA rs4981501 0.4 0.4 0.38 0.439896 0.2913 0.7173 0.2695 0.3411 0.5613 0.28 0.69 0.3 0.31 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139487 NA NA NA NA NA 0.268 NA 3.7087 1281 21 42710175 42710175 T C intronic FAM3B NA NA NA intronic ENSG00000183844 NA NA NA NA NA 21q22.3 NA NA NA NA rs2158354 0.35 0.35 0.339 0.347444 0.2913 0.2044 0.3199 0.6097 0.2178 0.29 0.22 0.34 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510136 NA NA NA NA NA 0.442 NA 3.7087 1281 22 24982522 24982522 A T intronic FAM211B,GGT1 NA NA NA intronic ENSG00000100028,ENSG00000100031,ENSG00000178026 NA NA NA NA NA 22q11.23 NA NA NA NA rs9612662 0.28 0.28 0.254 0.265176 0.2913 0.5367 0.2536 0.0265 0.2894 0.3 0.49 0.25 0.03 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312487 NA NA NA NA NA 0.217 NA 3.7087 1281 4 154553833 154553833 A G intronic KIAA0922 NA NA NA intronic ENSG00000121210 NA NA NA NA NA 4q31.3 NA NA NA NA rs41280471 0.09 0.09 0.073 0.10643 0.0696 0.1508 0.1369 0.0174 0.1973 0.09 0.14 0.13 0.02 0.1122 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106858 NA NA 0.110116 0.028143 NA 0.043 NA 3.708084 1281 11 94113288 94113288 C G UTR3 GPR83 NM_016540:c.*27G>C NA NA UTR3 ENSG00000123901 ENST00000243673:c.*27G>C,ENST00000539203:c.*27G>C NA NA NA NA 11q21 NA NA NA NA rs3740867 0.14 0.14 0.117 0.119409 0.2078 0.1726 0.1441 0.0136 0.0992 0.21 0.15 0.16 0.01 0.1883 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568045 NA NA 0.229293 0.040663 NA 0.138 NA 3.7079404 1281 13 50098376 50098376 G T intronic PHF11 NA NA NA intronic ENSG00000136147 NA NA NA NA NA 13q14.2 NA NA NA NA rs7332573 0.2 0.2 0.207 0.240216 0.0805 0.2431 0.0836 0.4032 0.2924 0.08 0.23 0.12 0.4 0.1401 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213544 NA NA 0.071478 0.320618 NA 0.348 NA 3.707922 1281 2 70933636 70933636 T C intronic ADD2 NA NA NA intronic ENSG00000075340 NA NA NA NA NA 2p13.3 NA NA NA NA rs2287096 0.43 0.43 0.404 0.437899 0.2922 0.4375 0.3184 0.6936 0.3272 0.3 0.4 0.36 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760991 NA NA NA NA NA 0.449 NA 3.7078 1281 2 113887338 113887338 A C intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs495410 0.18 0.18 0.151 0.191693 0.2922 0.0942 0.3314 0.0333 0.3037 0.29 0.08 0.33 0.04 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571246 NA NA NA NA NA 0.246 NA 3.7078 1281 2 113888793 113888793 A T intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs454078 0.19 0.19 0.151 0.190895 0.2922 0.0942 0.3329 0.031 0.3016 0.29 0.08 0.34 0.04 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444217 NA NA NA NA NA 0.239 NA 3.7078 1281 2 234375944 234375944 C T intronic DGKD NA NA NA intronic ENSG00000077044 NA NA NA NA NA 2q37.1 NA NA NA NA rs2305540 0.3 0.3 0.271 0.310503 0.2922 0.4018 0.3818 0.1248 0.4356 0.29 0.43 0.37 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128701 NA NA NA NA NA 0.275 NA 3.7078 1281 4 123333671 123333671 A G intronic ADAD1 NA NA NA intronic ENSG00000164113 NA NA NA NA NA 4q27 NA NA NA NA rs2086346 0.24 0.24 0.217 0.269768 0.2922 0.3224 0.2997 0.0272 0.499 0.3 0.31 0.3 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265584 NA NA NA NA NA 0.188 NA 3.7078 1281 10 120354818 120354818 C T intronic PRLHR NA NA NA intronic ENSG00000119973 NA NA NA NA NA 10q26.11 NA NA NA NA rs3740551 0.3 0.3 0.295 0.333466 0.2922 0.38 0.2666 0.2595 0.4755 0.3 0.36 0.26 0.25 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551373 NA NA NA NA NA 0.283 NA 3.7078 1281 17 72843923 72843923 G A intronic GRIN2C NA NA NA intronic ENSG00000161509 NA NA NA NA NA 17q25.1 NA NA NA NA rs3744192 0.24 0.24 0.22 0.21266 0.2922 0.379 0.1628 0.0136 0.2638 0.3 0.4 0.17 0.01 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910898 NA NA NA NA NA 0.174 NA 3.7078 1281 19 8167873 8167873 A G intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs56921504 0.31 0.31 0.248 0.330272 0.2922 0.5179 0.2839 0.1089 0.5082 0.29 0.51 0.29 0.1 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930958 NA NA NA NA NA 0.333 NA 3.7078 1281 1 151143166 151143166 C T intronic TMOD4 NA NA NA intronic ENSG00000163157 NA NA NA NA NA 1q21.3 NA NA NA NA rs6689566 0.08 0.08 0.084 0.0652955 0.1093 0.001 0.0403 0.1324 0.0133 0.11 NA 0.04 0.14 0.0794 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.079244 NA NA 0.103605 0.147753 NA 0.116 NA 3.707695 1281 7 100552311 100552311 C T intergenic ACHE,MUC12 dist=58770;dist=60593 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C1062T:p.T354T NA NA 7q22.1 NA NA NA NA rs12535515 NA NA NA 0.155751 0.2674 0.1706 0.1628 0.0318 0.1881 NA NA NA NA 0.5257 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239544 NA NA NA NA NA 0.355 NA 3.7069 1281 1 109394125 109394125 G A intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs4970815 0.25 0.25 0.236 0.22524 0.2932 0.2173 0.2147 0.1679 0.2485 0.31 0.23 0.23 0.17 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019151 NA NA NA NA NA 0.225 NA 3.7068 1281 2 29244889 29244889 A C intronic FAM179A NA NA NA intronic ENSG00000189350 NA NA NA NA NA 2p23.2 NA NA NA NA rs62130298 0.27 0.27 0.256 0.312101 0.2932 0.1508 0.3055 0.4145 0.364 0.28 0.13 0.29 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276939 NA NA NA NA NA 0.333 NA 3.7068 1281 7 47915890 47915890 C T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs4724656 0.31 0.31 0.312 0.345447 0.2932 0.0962 0.3516 0.593 0.317 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523563 NA NA NA NA NA 0.304 NA 3.7068 1281 7 47915917 47915917 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs4724657 0.31 0.31 0.312 0.345447 0.2932 0.0962 0.3516 0.593 0.317 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322628 NA NA NA NA NA 0.312 NA 3.7068 1281 7 47916950 47916950 A T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs2348660 0.31 0.31 0.32 0.345048 0.2932 0.0962 0.3516 0.5915 0.317 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453751 NA NA NA NA NA 0.312 NA 3.7068 1281 7 47916960 47916960 G T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs2348661 0.31 0.31 0.332 0.345048 0.2932 0.0962 0.3516 0.5915 0.317 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174179 NA NA NA NA NA 0.312 NA 3.7068 1281 7 47916995 47916995 T C intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs2348662 0.31 0.31 0.332 0.345447 0.2932 0.0962 0.3516 0.593 0.317 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666435 NA NA NA NA NA 0.21 NA 3.7068 1281 7 47920225 47920225 G C intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs17131893 0.31 0.31 0.287 0.34365 0.2932 0.0952 0.3516 0.59 0.3129 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947655 NA NA NA NA NA 0.29 NA 3.7068 1281 7 47920482 47920482 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs78574665 0.25 0.25 NA 0.34345 0.2932 0.0952 0.3501 0.59 0.3129 0.23 0.07 0.31 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131602 NA NA NA NA NA NA NA 3.7068 1281 7 47920499 47920499 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs62447082 0.31 0.31 0.301 0.34385 0.2932 0.0952 0.3501 0.59 0.3149 0.29 0.08 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768974 NA NA NA NA NA 0.21 NA 3.7068 1281 7 57199906 57199906 A G intronic ZNF479 NA NA NA intronic ENSG00000185177 NA NA NA NA NA 7p11.2 NA NA NA NA rs3889851 0.36 0.36 0.293 0.346246 0.2932 0.5446 0.3847 0.1793 0.3947 0.3 0.59 0.33 0.2 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580028 NA NA NA NA NA 0.29 NA 3.7068 1281 9 6251012 6251012 C A intronic IL33 NA NA NA intronic ENSG00000137033 NA NA NA NA NA 9p24.1 NA NA NA NA rs1317230 0.33 0.33 0.302 0.320687 0.2932 0.4573 0.4236 0.1316 0.3906 0.3 0.48 0.4 0.15 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230867 NA NA NA NA NA 0.261 NA 3.7068 1281 9 135982391 135982391 T C intronic RALGDS NA NA NA intronic ENSG00000160271 NA NA NA NA NA 9q34.2 NA NA NA NA rs2301577 0.22 0.22 0.184 0.177316 0.2932 0.1577 0.3156 0.0802 0.1115 0.29 0.17 0.33 0.1 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140929 NA NA NA NA NA 0.174 NA 3.7068 1281 17 49060107 49060107 T G intronic SPAG9 NA NA NA intronic ENSG00000008294 NA NA NA NA NA 17q21.33 NA NA NA NA rs12453116 0.23 0.23 0.191 0.211062 0.2932 0.2302 0.3314 0.0552 0.2321 0.29 0.23 0.33 0.06 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.341968 1.341968 NA NA NA NA 0.21 NA 3.7068 1281 19 11409494 11409494 G A intronic TSPAN16 NA NA NA intronic ENSG00000130167 NA NA NA NA NA 19p13.2 NA NA NA NA rs423304 0.39 0.39 NA 0.415535 0.2932 0.2728 0.3444 0.7163 0.3323 0.29 0.26 0.36 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501318 NA NA NA NA ID=COSN165731;OCCURENCE=1(breast) 0.522 NA 3.7068 1281 12 101552075 101552075 G A exonic SLC5A8 NA synonymous SNV SLC5A8:NM_145913:exon14:c.C1662T:p.Y554Y exonic ENSG00000256870 NA synonymous SNV ENSG00000256870:ENST00000536262:exon14:c.C1662T:p.Y554Y NA NA 12q23.1 NA NA NA NA rs2671444 0.73 0.73 0.731 0.752995 0.6352 0.8115 0.6023 0.9032 0.7178 0.63 0.8 0.64 0.88 0.6817 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.235101 NA NA 0.643289 0.866939 NA 0.616 NA 3.7064776 1281 11 63884027 63884027 C T exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.C288T:p.A96A exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.C288T:p.A96A NA NA 11q13.1 NA NA NA NA rs614035 0.45 0.45 0.437 0.40615 0.6968 0.3254 0.5519 0.1475 0.4366 0.7 0.31 0.56 0.15 0.5801 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.058329 NA NA 0.683384 0.231259 NA 0.449 NA 3.7063826 1281 11 105732731 105732731 C T intronic GRIA4 NA NA NA intronic ENSG00000152578 NA NA NA NA NA 11q22.3 NA NA NA NA rs2277279 0.11 0.11 0.072 0.113618 0.1024 0.1409 0.2435 0.0696 0.0644 0.1 0.12 0.22 0.05 0.1074 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.13779 NA NA 0.083857 0.075613 NA 0.08 NA 3.706343 1281 1 207109167 207109167 G A intronic PIGR NA NA NA intronic ENSG00000162896 NA NA NA NA NA 1q32.1 NA Name=CTCF NA NA rs6695632 0.34 0.34 0.322 0.286741 0.4563 0.3284 0.3242 0.1596 0.2147 0.45 0.31 0.37 0.19 0.386 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346001 NA NA 0.45147 0.18457 NA 0.442 NA 3.70623 1281 7 76131695 76131695 A G exonic DTX2 NA synonymous SNV DTX2:NM_001102596:exon5:c.A1170G:p.L390L,DTX2:NM_001102595:exon7:c.A1311G:p.L437L,DTX2:NM_001102594:exon8:c.A1311G:p.L437L,DTX2:NM_020892:exon9:c.A1311G:p.L437L exonic ENSG00000091073 NA synonymous SNV ENSG00000091073:ENST00000446820:exon5:c.A1170G:p.L390L,ENSG00000091073:ENST00000413936:exon7:c.A1311G:p.L437L,ENSG00000091073:ENST00000446600:exon7:c.A1038G:p.L346L,ENSG00000091073:ENST00000307569:exon8:c.A1170G:p.L390L,ENSG00000091073:ENST00000430490:exon8:c.A1311G:p.L437L,ENSG00000091073:ENST00000324432:exon9:c.A1311G:p.L437L NA NA 7q11.23 NA NA NA NA rs4728775 0.69 0.69 0.631 0.686102 0.6581 0.8095 0.7219 0.5749 0.7127 0.66 0.79 0.72 0.61 0.6711 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.067714 NA NA 0.631371 0.574966 NA 0.464 NA 3.7060956 1281 19 33953831 33953831 T C intronic PEPD NA NA NA intronic ENSG00000124299 NA NA NA NA NA 19q13.11 NA NA NA NA rs75449530 0.15 0.15 0.15 0.118411 0.1431 0.2937 0.0648 0.0174 0.0869 0.15 0.31 0.07 0.03 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055747 NA NA 0.150849 0.033237 NA 0.08 NA 3.706051 1281 5 37325940 37325940 T C intronic NUP155 NA NA NA intronic ENSG00000113569 NA NA NA NA NA 5p13.2 NA NA NA NA rs79019688 0.13 0.13 0.122 0.147963 0.1461 0.123 0.1614 0.112 0.2147 0.15 0.08 0.18 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341834 NA NA 0.147892 0.114162 NA 0.08 NA 3.706008 1281 3 58494546 58494546 G C intronic ACOX2 NA NA NA intronic ENSG00000168306 NA NA NA NA NA 3p14.3 NA NA NA NA rs11716125 0.21 0.21 0.22 0.194289 0.2942 0.001 0.2291 0.2655 0.1697 0.3 NA 0.27 0.28 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592042 NA NA NA NA NA 0.341 NA 3.7058 1281 7 5398902 5398902 T C intronic TNRC18 NA NA NA intronic ENSG00000182095 NA NA NA NA NA 7p22.1 NA NA NA NA rs12534467 0.29 0.29 0.251 0.269768 0.2942 0.2857 0.2781 0.2526 0.2454 0.31 0.27 0.3 0.25 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380013 NA NA NA NA NA 0.232 NA 3.7058 1281 9 135985166 135985166 G A intronic RALGDS NA NA NA intronic ENSG00000160271 NA NA NA NA NA 9q34.2 NA NA NA NA rs3747817 0.22 0.22 0.176 0.177716 0.2942 0.1577 0.3184 0.0787 0.1125 0.29 0.17 0.33 0.1 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877518 NA NA NA NA NA 0.181 NA 3.7058 1281 10 294165 294165 T C intronic ZMYND11 NA NA NA intronic ENSG00000015171 NA NA NA NA NA 10p15.3 NA NA NA NA rs10903752 0.39 0.39 0.359 0.384984 0.2942 0.4722 0.3833 0.3601 0.4233 0.32 0.49 0.37 0.4 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934092 NA NA NA NA NA 0.406 NA 3.7058 1281 22 30399000 30399000 A G intronic MTMR3 NA NA NA intronic ENSG00000100330 NA NA NA NA NA 22q12.2 NA NA NA NA rs12165769 0.1 0.1 0.096 0.103634 0.0924 0.0784 0.1081 0.1067 0.1339 0.1 0.08 0.09 0.12 0.1084 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122754 NA NA 0.093605 0.101226 NA 0.08 NA 3.705595 1281 19 9408163 9408163 G A intronic ZNF699 NA NA NA intronic ENSG00000196110 NA NA NA NA NA 19p13.2 NA NA NA NA rs56161262 0.16 0.16 0.14 0.181709 0.0865 0.0486 0.1023 0.4425 0.1207 0.08 0.03 0.11 0.45 0.1208 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294752 NA NA 0.087128 0.425028 NA 0.261 NA 3.705572 1281 5 170145921 170145921 G C intronic KCNIP1 NA NA NA intronic ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs34377595 0.12 0.12 0.124 0.110823 0.1054 NA 0.0764 0.2859 0.0184 0.11 NA 0.07 0.31 0.0941 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411665 NA NA 0.095 0.257603 NA 0.159 NA 3.7055 1281 17 76456135 76456135 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs2289756 0.19 0.19 0.153 0.220048 0.1382 0.246 0.3458 0.1415 0.2945 0.13 0.23 0.3 0.13 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63543 NA NA 0.156345 0.141296 NA 0.13 NA 3.705455 1281 5 170145749 170145749 C T intronic KCNIP1 NA NA NA intronic ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs10039251 0.12 0.12 0.115 0.110823 0.1054 NA 0.0764 0.2859 0.0184 0.11 NA 0.07 0.31 0.0945 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.659119 2.659119 NA 0.094884 0.256695 NA 0.159 NA 3.705216 1281 12 52695630 52695630 C T upstream KRT86 NA NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA NA NA NA rs1894033 0.12 0.12 0.12 0.154353 0.1282 0.0883 0.1311 0.171 0.2434 0.11 0.08 0.13 0.17 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080187 NA NA NA NA NA 0.181 NA 3.7051333 1282 2 43054277 43054277 C T intergenic HAAO,ZFP36L2 dist=34526;dist=395264 NA NA ncRNA_intronic ENSG00000232202 NA NA NA NA NA 2p21 NA NA NA NA rs62143243 0.3 0.3 0.251 0.32508 0.2952 0.0327 0.5144 0.5061 0.2781 0.27 0.03 0.49 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.794107 NA NA NA NA NA 0.283 NA 3.7048 1282 5 112899250 112899250 G A intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA NA NA rs6886199 0.42 0.42 0.414 0.420128 0.2952 0.2302 0.4625 0.7791 0.229 0.3 0.25 0.4 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597855 NA NA NA NA NA 0.529 NA 3.7048 1282 5 118945923 118945923 A G intergenic HSD17B4,FAM170A dist=67893;dist=19331 NA NA ncRNA_exonic ENSG00000239067 NA NA NA NA NA 5q23.1 NA NA NA NA rs35579755 0.25 0.25 0.246 0.270168 0.2952 0.1042 0.281 0.3192 0.3415 0.28 0.11 0.29 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.314075 NA NA NA NA NA 0.203 NA 3.7048 1282 7 56082992 56082992 C G intronic PSPH NA NA NA intronic ENSG00000146733 NA NA NA NA NA 7p11.2 NA NA NA NA rs4255091 0.33 0.33 0.337 0.290535 0.2952 0.4276 0.2637 0.2534 0.2137 0.31 0.41 0.28 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199483 NA NA NA NA NA 0.391 NA 3.7048 1282 9 119204638 119204638 G A intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs2302827 0.38 0.38 0.35 0.378195 0.2952 0.505 0.4942 0.2625 0.407 0.29 0.5 0.49 0.28 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.209116 NA NA NA NA NA 0.275 NA 3.7048 1282 10 72509809 72509809 C T intronic ADAMTS14 NA NA NA intronic ENSG00000138316 NA NA NA NA NA 10q22.1 NA NA NA NA rs2541229 0.31 0.31 0.29 0.30631 0.2952 0.2857 0.415 0.2791 0.2986 0.3 0.31 0.4 0.25 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2991 NA NA NA NA NA 0.275 NA 3.7048 1282 22 22712742 22712742 A G intergenic LOC96610,ZNF280B dist=35418;dist=126030 NA NA downstream ENSG00000211648 NA NA NA NA NA 22q11.22 NA Name=GR NA NA rs3753078 0.73 0.73 0.677 0.70607 0.7952 0.7996 0.8199 0.444 0.7914 0.79 0.81 0.82 0.46 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555703 NA NA NA NA NA 0.587 NA 3.7048 1282 10 128810685 128810685 T C intronic DOCK1 NA NA NA ncRNA_intronic ENSG00000223528 NA NA NA NA NA 10q26.2 NA NA NA NA rs1890872 0.17 0.17 0.159 0.152756 0.2187 0.1875 0.1196 0.0938 0.1524 0.22 0.2 0.13 0.1 0.1912 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605813 NA NA 0.218779 0.100094 NA 0.072 NA 3.7046543 1282 20 46294725 46294725 C T intronic SULF2 NA NA NA intronic ENSG00000196562 NA NA NA NA NA 20q13.12 NA Name=Pol2-4H8 NA NA rs2076545 0.43 0.43 0.433 0.407348 0.4165 0.5546 0.4899 0.2496 0.4008 0.42 0.58 0.48 0.26 0.4354 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913156 NA NA 0.44407 0.28847 NA 0.442 NA 3.70403 1282 6 31116133 31116133 A C intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs17197031 0.09 0.09 0.069 0.077476 0.1123 0.0347 0.1369 0.0567 0.0716 0.12 0.04 0.15 0.05 0.0981 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.908645 NA NA 0.08564 0.05169 NA 0.051 NA 3.70396 1282 12 131490483 131490483 G A intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs35387826 0.07 0.07 0.052 0.0595048 0.1004 0.0536 0.1066 0.0045 0.0644 0.1 0.04 0.12 0.0041 0.0845 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673768 NA NA 0.111163 0.020209 NA 0.029 NA 3.703937 1282 14 51371130 51371130 C T UTR3 ABHD12B NM_181814:c.*46C>T,NM_001206673:c.*46C>T NA NA UTR3 ENSG00000131969 ENST00000395752:c.*46C>T,ENST00000557345:c.*648C>T,ENST00000337334:c.*46C>T,ENST00000382029:c.*824C>T,ENST00000353130:c.*46C>T NA NA NA NA 14q22.1 NA NA NA NA rs11157780 0.27 0.27 0.239 0.250799 0.2028 0.4573 0.3746 0.0469 0.2751 0.21 0.47 0.37 0.07 0.2358 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637993 1.637993 NA 0.19093 0.070586 NA 0.167 NA 3.7038034 1282 2 43054369 43054369 T C intergenic HAAO,ZFP36L2 dist=34618;dist=395172 NA NA ncRNA_exonic ENSG00000232202 NA NA NA NA NA 2p21 NA NA NA NA rs62143244 0.31 0.31 0.289 0.329073 0.2962 0.0327 0.5144 0.5204 0.2781 0.27 0.03 0.51 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197438 NA NA NA NA NA 0.283 NA 3.7038 1282 3 134880745 134880745 G T intronic EPHB1 NA NA NA intronic ENSG00000154928 NA NA NA NA NA 3q22.2 NA NA NA NA rs2270882 0.38 0.38 0.353 0.360024 0.2962 0.5714 0.4035 0.2526 0.3221 0.3 0.62 0.36 0.23 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879982 NA NA NA NA NA 0.333 NA 3.7038 1282 7 23810523 23810523 C G intronic STK31 NA NA NA intronic ENSG00000196335 NA NA NA NA NA 7p15.3 NA NA NA NA rs41273996 0.25 0.25 0.236 0.264177 0.2962 0.3948 0.1643 0.152 0.319 0.28 0.36 0.17 0.14 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160905 NA NA NA NA NA 0.159 NA 3.7038 1282 9 6990364 6990364 G T intronic KDM4C NA NA NA intronic ENSG00000107077 NA NA NA NA NA 9p24.1 NA NA NA NA rs2760657 0.24 0.24 0.182 0.198682 0.2962 0.1756 0.2752 0.146 0.1391 0.3 0.19 0.29 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.09758 NA NA NA NA NA 0.101 NA 3.7038 1282 9 91978539 91978539 A T intronic SEMA4D NA NA NA intronic ENSG00000187764 NA NA NA NA NA 9q22.2 NA NA NA NA rs13297725 0.35 0.35 0.317 0.383786 0.2962 0.4067 0.4712 0.3487 0.4356 0.32 0.37 0.43 0.31 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328403 NA NA NA NA NA 0.268 NA 3.7038 1282 12 7015915 7015915 A G intronic LRRC23 NA NA NA intronic ENSG00000010626 NA NA NA NA NA 12p13.31 NA NA NA NA rs1007924 0.37 0.37 0.389 0.389976 0.2962 0.256 0.2781 0.677 0.316 0.3 0.25 0.35 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050185 NA NA NA NA NA 0.413 NA 3.7038 1282 12 7894188 7894188 C G intronic CLEC4C NA NA NA intronic ENSG00000198178 NA NA NA NA NA 12p13.31 NA NA NA NA rs73056607 0.23 0.23 0.201 0.186901 0.2962 0.1994 0.3285 0.0446 0.1534 0.29 0.23 0.34 0.05 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.000738 NA NA NA NA ID=COSN164126;OCCURENCE=1(breast) 0.312 NA 3.7038 1282 12 125466987 125466987 C T intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs11057949 0.32 0.32 0.302 0.352436 0.2962 0.4335 0.4222 0.1899 0.4969 0.27 0.44 0.43 0.2 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023057 NA NA NA NA NA 0.384 NA 3.7038 1282 14 75359441 75359441 T C intronic DLST NA NA NA intronic ENSG00000119689 NA NA NA NA NA 14q24.3 NA NA NA NA rs2300599 0.29 0.29 0.288 0.284545 0.2962 0.2192 0.2349 0.3434 0.2955 0.3 0.25 0.27 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01665 NA NA NA NA NA 0.188 NA 3.7038 1282 15 90333616 90333616 T C intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs8192299 0.28 0.28 0.27 0.311701 0.2962 0.2341 0.245 0.3759 0.3681 0.29 0.25 0.24 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718333 NA NA NA NA NA 0.341 NA 3.7038 1282 16 30000901 30000901 G A intronic TAOK2 NA NA NA intronic ENSG00000149930 NA NA NA Score=737;Name=lod=1315 NA 16p11.2 NA NA NA NA rs3814881 0.34 0.34 0.32 0.350439 0.4423 0.376 0.3156 0.1611 0.5102 0.44 0.36 0.34 0.16 0.4089 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.838604 2.838604 NA 0.445 0.179335 NA 0.362 NA 3.7038 1282 19 10108929 10108929 C T intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745596 0.24 0.24 NA 0.202276 0.2962 0.1677 0.2176 0.1982 0.136 0.33 0.19 0.24 0.16 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044804 NA NA NA NA NA 0.123 NA 3.7038 1282 19 57835279 57835279 G A intronic ZNF543 NA NA NA intronic ENSG00000178229 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801467 0.34 0.34 0.299 0.319688 0.2962 0.4038 0.4366 0.2368 0.2863 0.3 0.44 0.41 0.22 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645163 NA NA NA NA NA 0.225 NA 3.7038 1282 21 46697820 46697820 G T intronic POFUT2 NA NA NA intronic ENSG00000186866 NA NA NA NA NA 21q22.3 NA NA NA NA rs914214 0.32 0.32 0.328 0.340056 0.2962 0.4444 0.2233 0.298 0.4172 0.3 0.44 0.25 0.26 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125265 NA NA NA NA NA 0.261 NA 3.7038 1282 14 51372103 51372103 C G UTR3 PYGL NM_002863:c.*7G>C,NM_001163940:c.*7G>C NA NA UTR3 ENSG00000100504 ENST00000544180:c.*7G>C,ENST00000216392:c.*7G>C NA NA NA NA 14q22.1 NA NA NA NA rs1042266 0.27 0.27 NA 0.250998 0.2028 0.4573 0.3761 0.0469 0.2751 0.21 0.47 0.37 0.07 0.2357 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46688 NA NA 0.191047 0.070132 NA 0.167 NA 3.7037864 1282 2 220156146 220156146 G A intronic PTPRN NA NA NA intronic ENSG00000054356 NA NA NA NA NA 2q35 NA NA NA NA rs1983297 0.07 0.07 0.058 0.0748802 0.1004 0.0437 0.0793 0.0431 0.1207 0.09 0.04 0.1 0.04 0.0893 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031932 NA NA 0.106744 0.044939 NA 0.138 NA 3.703556 1282 6 26093303 26093303 T C intronic HFE NA NA NA intronic ENSG00000010704 NA NA NA NA NA 6p22.2 NA NA NA NA rs1800708 0.24 0.24 0.203 0.21865 0.0865 0.5506 0.2133 0.0764 0.2086 0.1 0.62 0.15 0.09 0.1472 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338054 NA NA 0.062791 0.08965 NA 0.116 NA 3.703509 1282 9 36657220 36657220 C G intronic MELK NA NA NA intronic ENSG00000165304 NA NA NA NA NA 9p13.2 NA NA NA NA rs72733443 0.05 0.05 0.049 0.0433307 0.1034 0.0099 0.0533 0.003 0.0634 0.12 0.01 0.06 0.01 0.0843 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374709 NA NA 0.108953 0.024285 NA 0.058 NA 3.703347 1282 19 4947041 4947041 A G intronic UHRF1 NA NA NA ncRNA_intronic ENSG00000034063 NA NA NA NA NA 19p13.3 NA NA NA NA rs2602734 0.68 0.68 0.683 0.695288 0.6302 0.8036 0.6037 0.6952 0.7157 0.62 0.8 0.62 0.68 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274086 NA NA NA NA NA 0.63 NA 3.7031333 1282 20 3674064 3674064 G C intronic SIGLEC1 NA NA NA intronic ENSG00000088827 NA NA NA NA NA 20p13 NA NA NA NA rs3827110 0.13 0.13 0.154 0.125998 0.0915 0.0933 0.0461 0.2791 0.045 0.1 0.1 0.04 0.28 0.107 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360676 NA NA 0.09858 0.236029 NA 0.116 NA 3.70292 1282 4 10027744 10027744 G A intronic SLC2A9 NA NA NA intronic ENSG00000109667 NA NA NA NA NA 4p16.1 NA NA NA NA rs6449238 0.28 0.28 0.283 0.270567 0.2972 0.0972 0.2205 0.5582 0.0685 0.28 0.09 0.23 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331287 NA NA NA NA NA 0.319 NA 3.7028 1282 5 142311509 142311509 T C intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA NA NA 5q31.3 NA NA NA NA rs712177 0.6 0.6 0.609 0.659345 0.2972 0.8988 0.4496 0.8313 0.7014 0.31 0.9 0.4 0.83 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.482992 NA NA NA NA NA 0.529 NA 3.7028 1282 8 139153385 139153385 C A intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA NA NA NA rs7816196 0.26 0.26 0.261 0.267772 0.2972 0.2242 0.2695 0.2534 0.3006 0.28 0.23 0.3 0.26 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072301 NA NA NA NA NA 0.362 NA 3.7028 1282 9 139108359 139108359 G A intronic QSOX2 NA NA NA intronic ENSG00000165661 NA NA NA NA NA 9q34.3 NA NA NA NA rs55791344 0.18 0.18 0.152 0.162141 0.2972 0.1161 0.219 0.0318 0.2065 0.3 0.12 0.22 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724355 NA NA NA NA NA 0.138 NA 3.7028 1282 10 64426056 64426056 G T intronic ZNF365 NA NA NA intronic ENSG00000138311 NA NA NA NA NA 10q21.2 NA NA NA NA rs4746516 0.35 0.35 0.343 0.398962 0.2972 0.2421 0.4726 0.5098 0.4632 0.29 0.27 0.38 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372316 NA NA NA NA NA 0.239 NA 3.7028 1282 11 8246326 8246326 G A intronic LMO1 NA NA NA intronic ENSG00000166407 NA NA NA NA NA 11p15.4 NA NA NA NA rs34544683 0.17 0.17 0.157 0.159545 0.2972 0.0218 0.2205 0.0976 0.2004 0.29 0.01 0.26 0.1 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291673 NA NA NA NA NA 0.225 NA 3.7028 1282 11 113076982 113076982 G C intronic NCAM1 NA NA NA intronic ENSG00000149294 NA NA NA NA NA 11q23.2 NA NA NA NA rs1975259 0.39 0.39 0.373 0.404153 0.2972 0.4167 0.2839 0.5363 0.408 0.3 0.42 0.27 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307587 NA NA NA NA NA 0.42 NA 3.7028 1282 14 24647522 24647522 G T intronic REC8 NA NA NA intronic ENSG00000100918 NA NA NA NA NA 14q12 NA NA NA NA rs3736840 0.23 0.23 0.221 0.232628 0.2972 0.1667 0.1888 0.1914 0.3211 0.29 0.17 0.22 0.2 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.037206 NA NA NA NA NA 0.188 NA 3.7028 1282 16 71724369 71724369 T C intronic PHLPP2 NA NA NA intronic ENSG00000040199 NA NA NA NA NA 16q22.2 NA NA NA NA rs12448022 0.21 0.21 0.187 0.1873 0.2972 0.0417 0.1744 0.2345 0.1697 0.31 0.05 0.21 0.22 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.978377 3.978377 NA NA NA NA 0.232 NA 3.7028 1282 17 48541491 48541491 A G intronic ACSF2 NA NA NA intronic ENSG00000167107 NA NA NA NA NA 17q21.33 NA NA NA NA rs2277629 0.22 0.22 0.192 0.186701 0.2972 0.1379 0.245 0.0961 0.2045 0.28 0.14 0.3 0.15 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014734 NA NA NA NA NA 0.116 NA 3.7028 1282 19 43876931 43876931 G A intergenic CD177,TEX101 dist=9451;dist=15832 NA NA ncRNA_exonic ENSG00000204933 NA NA NA NA NA 19q13.31 NA NA NA NA rs66774479 0.32 0.32 0.301 0.3127 0.2972 0.5575 0.3646 0.0613 0.3793 0.31 0.54 0.32 0.08 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184409 NA 1 NA NA NA 0.348 NA 3.7028 1282 20 13845726 13845726 T C intronic SEL1L2 NA NA NA intronic ENSG00000101251 NA NA NA NA NA 20p12.1 NA NA NA NA rs2073292 0.25 0.25 0.222 0.265176 0.2972 0.2034 0.3213 0.1589 0.3998 0.3 0.2 0.32 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.312683 NA NA NA NA NA 0.283 NA 3.7028 1282 22 31819212 31819212 A G intronic DRG1 NA NA NA intronic ENSG00000185721 NA NA NA NA NA 22q12.2 NA NA NA NA rs5753609 0.35 0.35 0.326 0.307508 0.2972 0.5526 0.3905 0.149 0.2209 0.31 0.56 0.36 0.17 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383531 NA NA NA NA NA 0.326 NA 3.7028 1282 11 63283220 63283220 C G ncRNA_intronic MIR3680-1,MIR3680-2 NA NA NA intronic ENSG00000133317 NA NA NA NA NA 11q12.3 NA NA NA NA rs3740633 0.28 0.28 0.279 0.322684 0.2147 0.2748 0.1556 0.5348 0.3149 0.21 0.25 0.17 0.51 0.2275 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82829 NA NA 0.18846 0.473876 NA 0.319 NA 3.7026733 1282 5 33457535 33457535 T A intronic TARS NA NA NA intronic ENSG00000113407 NA NA NA NA NA 5p13.3 NA NA Name=37 NA rs2270903 0.56 0.56 0.574 0.606829 0.3986 0.7312 0.4914 0.702 0.6462 0.4 0.73 0.45 0.69 0.5052 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.626691 2.626691 NA 0.393721 0.669088 NA 0.645 NA 3.702479 1282 1 41541166 41541166 C T intronic SCMH1 NA NA NA intronic ENSG00000010803 NA NA NA NA NA 1p34.2 NA NA NA NA rs41269465 0.09 0.09 0.068 0.091254 0.1034 0.1181 0.1542 0.0038 0.1247 0.1 0.12 0.13 0.01 0.1032 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833856 NA NA 0.091047 0.021798 NA 0.043 NA 3.702353 1282 11 17448704 17448704 G A intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA Score=374;Name=lod=44 NA 11p15.1 NA NA NA NA rs1799854 0.42 0.42 0.354 0.368411 0.4205 0.5506 0.536 0.1384 0.319 0.42 0.57 0.51 0.16 0.4346 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.493998 2.493998 NA 0.44293 0.179318 NA 0.442 NA 3.70197 1282 3 52857778 52857778 T A intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs34860124 0.07 0.07 0.052 0.0555112 0.1004 0.0417 0.111 0.0076 0.0491 0.11 0.04 0.14 0.01 0.0854 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215239 NA NA 0.112326 0.022242 ID=COSN166897;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.13 NA 3.701874 1282 2 161169828 161169828 C G intronic RBMS1 NA NA NA intronic ENSG00000153250 NA NA NA NA NA 2q24.2 NA NA NA NA rs10929977 0.31 0.31 0.3 0.261781 0.2982 0.5317 0.2118 0.1241 0.1677 0.31 0.52 0.24 0.14 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781029 NA NA NA NA NA 0.196 NA 3.7018 1282 6 46988648 46988648 C T intronic GPR110 NA NA NA intronic ENSG00000153292 NA NA NA NA NA 6p12.3 NA NA NA NA rs1226493 0.44 0.44 0.473 0.492812 0.2982 0.4256 0.389 0.7716 0.4591 0.27 0.42 0.36 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.063802 NA NA NA NA NA 0.493 NA 3.7018 1282 6 89864679 89864679 A G intronic PM20D2 NA NA NA intronic ENSG00000146281 NA NA NA NA NA 6q15 NA NA NA NA rs4053639 0.36 0.36 0.354 0.368011 0.2982 0.256 0.3862 0.5688 0.271 0.29 0.29 0.38 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310926 NA NA NA NA NA 0.362 NA 3.7018 1282 10 100156990 100156990 T A intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs10883087 0.38 0.38 0.366 0.391973 0.2982 0.4415 0.3559 0.4017 0.4499 0.31 0.46 0.34 0.43 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389228 NA NA NA NA NA 0.275 NA 3.7018 1282 19 12014274 12014274 A G intronic ZNF69 NA NA NA intronic ENSG00000198429 NA NA NA NA NA 19p13.2 NA NA NA NA rs279205 0.31 0.31 0.338 0.305511 0.2982 0.0109 0.2695 0.6785 0.138 0.3 0.02 0.28 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779662 NA NA NA NA NA 0.341 NA 3.7018 1282 22 23631639 23631639 T C intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA NA NA rs11090228 0.31 0.31 0.31 0.322684 0.2982 0.0754 0.3242 0.5461 0.2996 0.3 0.08 0.31 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018709 NA NA NA NA NA 0.304 NA 3.7018 1282 22 37528606 37528606 G A intronic IL2RB NA NA NA intronic ENSG00000100385 NA NA NA NA NA 22q12.3 NA NA NA NA rs2072862 0.34 0.34 0.369 0.35623 0.2982 0.5565 0.2176 0.2549 0.4448 0.28 0.57 0.22 0.27 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169094 NA NA NA NA NA 0.406 NA 3.7018 1282 10 26310679 26310679 A C intronic MYO3A NA NA NA UTR3 ENSG00000095777 ENST00000376302:c.*89A>C NA NA NA NA 10p12.1 NA NA NA NA rs17666079 0.33 0.33 0.326 0.330072 0.4652 0.2917 0.2968 0.1785 0.4591 0.47 0.28 0.29 0.21 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998819 NA NA NA NA NA 0.283 NA 3.7014667 1282 2 15615910 15615910 A G exonic NBAS NA synonymous SNV NBAS:NM_015909:exon14:c.T1242C:p.S414S exonic ENSG00000151779 NA synonymous SNV ENSG00000151779:ENST00000281513:exon14:c.T1242C:p.S414S,ENSG00000151779:ENST00000441750:exon14:c.T1242C:p.S414S NA NA 2p24.3 NA NA NA NA rs1990754 0.49 0.49 0.505 0.492812 0.6909 0.1696 0.6009 0.5174 0.5123 0.67 0.19 0.59 0.47 0.5909 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.163807 NA NA 0.683605 0.544031 ID=COSM148803;OCCURENCE=1(breast),1(stomach) 0.645 NA 3.7012616 1282 3 10076975 10076975 A C intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA NA NA NA rs17032276 0.18 0.18 0.188 0.18111 0.1392 0.0476 0.1614 0.3616 0.1319 0.15 0.07 0.18 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984913 NA NA 0.159648 0.325145 NA 0.348 NA 3.701152 1282 12 11035368 11035368 T G ncRNA_intronic PRH1-PRR4 NA NA NA intronic ENSG00000231887 NA NA NA NA NA 12p13.2 NA NA NA NA rs11054060 0.55 0.55 0.516 0.534545 0.6322 0.7312 0.6138 0.1732 0.6636 0.62 0.72 0.61 0.19 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020127 NA NA NA NA NA 0.457 NA 3.7011333 1282 7 33014404 33014404 G A intronic FKBP9 NA NA NA intronic ENSG00000105778,ENSG00000122642 NA NA NA NA NA 7p14.3 NA NA NA NA rs2953557 0.11 0.11 0.029 0.0990415 0.163 0.0486 0.2709 0.0197 0.0706 0.17 0.05 0.22 0.03 0.1359 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33669 NA NA NA NA NA 0.188 NA 3.7011 1282 11 105768983 105768983 T C intronic GRIA4 NA NA NA intronic ENSG00000152578 NA NA NA NA NA 11q22.3 NA NA NA NA rs609239 0.11 0.11 0.087 0.111621 0.1074 0.1458 0.245 0.0567 0.0603 0.11 0.11 0.22 0.04 0.1053 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086828 NA NA 0.086287 0.077028 NA 0.101 NA 3.701013 1282 1 111778468 111778468 G A intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs961364 0.26 0.26 0.245 0.237021 0.2992 0.3204 0.2925 0.0825 0.2566 0.3 0.34 0.27 0.09 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272225 NA NA NA NA NA 0.254 NA 3.7008 1282 1 156247907 156247907 C T intronic SMG5 NA NA NA intronic ENSG00000198952 NA NA NA NA NA 1q22 NA NA NA NA rs2248273 0.25 0.25 0.231 0.234425 0.2992 0.2599 0.1758 0.1929 0.2393 0.3 0.28 0.2 0.18 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66678 NA NA NA NA ID=COSN163267;OCCURENCE=1(NS) 0.159 NA 3.7008 1282 2 241725637 241725637 G A intronic KIF1A NA NA NA intronic ENSG00000130294 NA NA NA NA NA 2q37.3 NA NA NA NA rs74002922 0.23 0.23 0.215 0.214257 0.2992 0.1458 0.1643 0.2405 0.1973 0.3 0.12 0.17 0.27 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637467 NA NA NA NA NA 0.225 NA 3.7008 1282 4 17511127 17511127 T C intronic QDPR NA NA NA intronic ENSG00000151552 NA NA NA NA NA 4p15.32 NA NA NA NA rs3733574 0.28 0.28 0.275 0.270168 0.2992 0.3353 0.196 0.2602 0.2393 0.31 0.35 0.2 0.23 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021762 NA NA NA NA NA 0.203 NA 3.7008 1282 7 6975973 6975973 T C intergenic CCZ1B,LOC100131257 dist=110047;dist=139428 NA NA ncRNA_exonic ENSG00000242731 NA NA NA NA NA 7p22.1 NA NA NA NA rs67112259 0.44 0.44 0.413 0.453075 0.2992 0.8641 0.3098 0.2867 0.5143 0.3 0.86 0.28 0.28 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121275 NA NA NA NA NA 0.348 NA 3.7008 1282 7 34989337 34989337 T G intronic DPY19L1 NA NA NA intronic ENSG00000173852 NA NA NA NA NA 7p14.3 NA NA NA NA rs2021390 0.23 0.23 0.232 0.21885 0.2992 0.129 0.2608 0.1974 0.228 0.3 0.13 0.26 0.23 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637928 NA NA NA NA NA 0.312 NA 3.7008 1282 10 96013824 96013824 C T intronic PLCE1 NA NA NA intronic ENSG00000138193 NA NA NA NA NA 10q23.33 NA NA NA NA rs1408820 0.27 0.27 0.267 0.276757 0.2992 0.2996 0.232 0.2322 0.3221 0.29 0.3 0.25 0.21 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384831 NA NA NA NA NA 0.217 NA 3.7008 1282 15 76077257 76077257 G A intergenic MIR4313,UBE2Q2 dist=22601;dist=58365 NA NA ncRNA_intronic ENSG00000187812 NA NA NA NA NA 15q24.2 NA NA NA NA rs3751536 0.25 0.25 0.202 0.24381 0.2992 0.2272 0.3602 0.1445 0.2556 0.31 0.2 0.33 0.14 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070963 NA NA NA NA NA 0.138 NA 3.7008 1282 19 53157096 53157096 C A intronic ZNF83 NA NA NA intronic ENSG00000167766 NA NA NA NA NA 19q13.41 NA NA NA NA rs4287691 0.23 0.23 0.234 0.205072 0.2992 0.0496 0.1945 0.2973 0.1513 0.29 0.06 0.25 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476733 NA NA NA NA NA 0.225 NA 3.7008 1282 19 58099706 58099706 C T intronic ZIK1 NA NA NA intronic ENSG00000171649 NA NA NA NA NA 19q13.43 NA NA NA NA rs73060458 0.3 0.3 0.304 0.324081 0.2992 0.3155 0.2478 0.4009 0.3088 0.3 0.25 0.27 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646248 NA NA NA NA NA 0.326 NA 3.7008 1282 20 40120211 40120211 C T intronic CHD6 NA NA NA intronic ENSG00000124177 NA NA NA NA NA 20q12 NA NA NA NA rs4810321 0.53 0.53 0.527 0.542732 0.2992 0.7063 0.4438 0.7927 0.3569 0.29 0.7 0.42 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472559 NA NA NA NA NA 0.536 NA 3.7008 1282 22 22434448 22434448 A G intergenic TOP3B,VPREB1 dist=97301;dist=164752 NA NA ncRNA_exonic ENSG00000253752 NA NA NA NA NA 22q11.22 NA NA NA NA rs5750483 0.5 0.5 0.483 0.552915 0.2992 0.7302 0.5389 0.5492 0.6462 0.29 0.73 0.48 0.57 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723848 NA NA NA NA NA 0.399 NA 3.7008 1282 2 233759650 233759650 T A intronic NGEF NA NA NA intronic ENSG00000066248 NA NA NA NA NA 2q37.1 NA NA NA NA rs75269119 0.08 0.08 0.052 0.117013 0.0785 0.119 0.1037 0.0439 0.2628 0.08 0.1 0.09 0.03 0.1181 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278435 NA NA 0.102606 0.055833 NA 0.101 NA 3.700794 1282 7 38256938 38256938 C T intronic STARD3NL NA NA NA intronic ENSG00000010270 NA NA NA NA NA 7p14.1 NA NA NA NA rs6959603 0.06 0.06 0.063 0.0479233 0.1163 0.0228 0.0504 0.0098 0.0532 0.12 0.03 0.05 0.01 0.0811 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166962 NA NA 0.102442 0.028824 NA 0.029 NA 3.700158 1282 2 219222733 219222733 G A intronic C2orf62 NA NA NA intronic ENSG00000158428 NA NA NA NA NA 2q35 NA NA NA NA rs62182089 0.07 0.07 0.075 0.076877 0.1024 0.0347 0.0591 0.1067 0.0665 0.09 0.03 0.06 0.09 0.0906 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804718 NA NA 0.106977 0.113936 NA 0.051 NA 3.700023 1282 1 149094851 149094851 T C intergenic LOC645166,LOC388692 dist=141797;dist=184625 NA NA ncRNA_intronic ENSG00000179571 NA NA NA NA NA 1q21.2 NA NA NA NA rs9438369 0.24 0.24 0.228 0.233427 0.3002 0.245 0.2464 0.1838 0.2106 0.29 0.24 0.23 0.19 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550743 NA NA NA NA NA 0.203 NA 3.6998 1282 22 22434566 22434566 C T intergenic TOP3B,VPREB1 dist=97419;dist=164634 NA NA ncRNA_exonic ENSG00000253752 NA NA NA NA NA 22q11.22 NA NA NA NA rs5750484 0.52 0.52 0.509 0.583067 0.3002 0.7302 0.5432 0.6611 0.6452 0.29 0.73 0.48 0.67 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.14588 NA NA NA NA NA 0.449 NA 3.6998 1282 9 14747133 14747133 T C intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA NA NA rs2270529 0.31 0.31 0.303 0.337859 0.3002 0.2768 0.3415 0.3638 0.4018 0.31 0.26 0.32 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.38063 1.38063 NA NA NA NA 0.348 NA 3.6998 1282 9 34224631 34224631 C T intronic UBAP1 NA NA NA intronic ENSG00000165006 NA NA NA NA NA 9p13.3 NA NA NA NA rs7856567 0.42 0.42 0.404 0.433706 0.3002 0.7411 0.3948 0.2481 0.5327 0.32 0.7 0.38 0.26 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35903 NA NA NA NA NA 0.283 NA 3.6998 1282 10 96030458 96030458 G T intronic PLCE1 NA NA NA intronic ENSG00000138193 NA NA NA NA NA 10q23.33 NA NA NA NA rs1969867 0.27 0.27 0.242 0.277955 0.3002 0.3006 0.2349 0.2315 0.3252 0.29 0.3 0.25 0.22 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.135413 NA NA NA NA NA 0.225 NA 3.6998 1282 16 28513129 28513129 T C intronic IL27 NA NA NA intronic ENSG00000197272 NA NA NA NA NA 16p11.2 NA NA NA NA rs181205 NA NA 0.23 0.229433 0.3002 0.0952 0.3934 0.233 0.1738 NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806361 NA NA NA NA NA 0.167 NA 3.6998 1282 19 36221051 36221051 G A intronic MLL4 NA NA NA ncRNA_intronic ENSG00000105663 NA NA NA NA NA 19q13.12 NA NA NA NA rs2242520 0.33 0.33 0.303 0.371406 0.2078 0.5476 0.2853 0.4024 0.3773 0.2 0.5 0.27 0.36 0.2623 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.265051 NA NA 0.163526 0.371015 NA 0.268 NA 3.6997073 1282 15 86253911 86253911 T G intronic AKAP13 NA NA NA intronic ENSG00000170776 NA NA NA NA NA 15q25.3 NA Name=Oct-2,p300,BATF,POU2F2,USF2,PU.1,SP1,MEF2C_(SC-13268),BCL11A,MEF2A,IRF4_(M-17),NFKB,PAX5-N19,SRF,USF-1,TBP,JunD,EBF Name=10 NA rs8038249 0.67 0.67 0.622 0.665735 0.7753 0.623 0.8141 0.5356 0.6677 0.79 0.57 0.78 0.51 0.7449 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.752425 1.752425 NA 0.78013 0.559491 NA 0.681 NA 3.69967 1282 6 29580436 29580436 A G intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29253 0.09 0.09 0.076 0.109026 0.0974 0.123 0.0807 0.0946 0.1462 0.08 0.12 0.08 0.09 0.1009 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.153954 2.153954 NA 0.102093 0.08965 NA 0.123 NA 3.699607 1282 1 6209265 6209265 G T intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs41279496 0.13 0.13 0.098 0.129992 0.0795 0.249 0.0692 0.0681 0.1861 0.08 0.26 0.09 0.07 0.1544 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68097 NA NA 0.066527 0.055581 NA 0.08 NA 3.699573 1282 12 59308003 59308003 C T intronic LRIG3 NA NA NA intronic ENSG00000139263 NA NA NA NA NA 12q14.1 NA NA NA NA rs11172820 0.14 0.14 0.108 0.171925 0.0785 0.2698 0.268 0.0953 0.2025 0.08 0.21 0.22 0.1 0.136 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731303 NA NA 0.08593 0.102814 NA 0.152 NA 3.69957 1282 18 61160385 61160385 T C intronic SERPINB5 NA NA NA exonic ENSG00000206075 NA synonymous SNV ENSG00000206075:ENST00000489441:exon5:c.T624C:p.D208D NA NA 18q21.33 NA NA NA NA rs2289521 0.44 0.44 0.412 0.383387 0.6123 0.3998 0.4611 0.1551 0.3845 0.62 0.38 0.52 0.14 0.5216 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253194 NA NA NA NA NA 0.384 NA 3.6994333 1282 4 110453908 110453908 C G intronic SEC24B NA NA NA intronic ENSG00000138802 NA NA NA NA NA 4q25 NA NA NA NA rs34727629 0.04 0.04 0.051 0.0497204 0.0934 NA 0.0519 0.0287 0.0828 0.09 NA 0.06 0.02 0.1 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847023 NA NA 0.107299 0.038684 NA 0.08 NA 3.699301 1282 11 67160933 67160933 G A UTR5 RAD9A NM_001243224:c.-28G>A NA NA intronic ENSG00000172613 NA NA NA NA NA 11q13.2 NA NA NA NA rs2066490 0.09 0.09 0.08 0.077476 0.163 0.0933 0.1095 0.0061 0.047 0.15 0.06 0.12 0.01 0.1358 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745609 NA NA 0.168685 0.038864 NA 0.022 NA 3.6991817 1282 4 96127869 96127869 T G exonic UNC5C NA synonymous SNV UNC5C:NM_003728:exon11:c.A1812C:p.P604P exonic ENSG00000182168 NA synonymous SNV ENSG00000182168:ENST00000453304:exon11:c.A1812C:p.P604P,ENSG00000182168:ENST00000513796:exon12:c.A1869C:p.P623P NA NA 4q22.3 NA NA NA NA rs2276322 0.56 0.56 0.533 0.528554 0.7068 0.3601 0.513 0.5514 0.499 0.7 0.34 0.56 0.59 0.5883 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897106 NA NA 0.672674 0.544031 NA 0.638 NA 3.6988926 1282 3 11925358 11925358 T C intergenic TAMM41,SYN2 dist=37006;dist=120504 NA NA ncRNA_intronic ENSG00000230342 NA NA NA NA NA 3p25.2 NA NA NA NA rs2470562 0.15 0.15 0.104 0.158946 0.3012 0.0089 0.2349 0.0756 0.226 0.28 0.01 0.2 0.07 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758113 NA NA NA NA NA 0.159 NA 3.6988 1282 3 131404641 131404641 C A intronic CPNE4 NA NA NA intronic ENSG00000196353 NA NA NA NA NA 3q22.1 NA NA NA NA rs6439315 0.25 0.25 0.26 0.252396 0.3012 0.1081 0.2493 0.32 0.2618 0.29 0.12 0.26 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912157 NA NA NA NA NA 0.304 NA 3.6988 1282 7 142157389 142157389 G A intergenic LOC730441,MTRNR2L6 dist=185321;dist=216742 NA NA ncRNA_exonic ENSG00000227550 NA NA NA NA NA 7q34 NA NA NA NA rs361397 0.29 0.29 0.25 0.298722 0.3012 0.2073 0.4222 0.264 0.3497 0.3 0.18 0.4 0.31 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445417 NA NA NA NA NA 0.341 NA 3.6988 1282 12 49424616 49424616 G A intronic MLL2 NA NA NA intronic ENSG00000167548 NA NA NA NA NA 12q13.12 NA NA NA NA rs11614738 0.26 0.26 0.22 0.274561 0.3012 0.4444 0.232 0.0234 0.4417 0.3 0.41 0.25 0.03 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.608087 1.608087 NA NA NA NA 0.21 NA 3.6988 1282 12 49436724 49436724 A G intronic MLL2 NA NA NA intronic ENSG00000167548 NA NA NA NA NA 12q13.12 NA NA NA NA rs12580349 0.28 0.28 0.271 0.302716 0.3012 0.4315 0.2478 0.1256 0.4499 0.3 0.39 0.27 0.12 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763895 NA NA NA NA NA 0.254 NA 3.6988 1282 13 113465109 113465109 G T intronic ATP11A NA NA NA intronic ENSG00000068650 NA NA NA NA NA 13q34 NA NA NA NA rs9577843 0.3 0.3 0.285 0.264177 0.3012 0.255 0.3069 0.2542 0.2188 0.31 0.28 0.34 0.26 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892218 NA NA NA NA NA 0.297 NA 3.6988 1282 22 45927112 45927112 A G intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs2239844 0.1 0.1 0.071 0.109026 0.0964 0.0972 0.1556 0.0514 0.1789 0.11 0.1 0.14 0.05 0.1053 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869271 NA NA 0.099767 0.056287 ID=COSN166783;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.196 NA 3.698533 1282 6 29581011 29581011 T G intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29226 0.09 0.09 0.073 0.108826 0.0974 0.122 0.0807 0.0946 0.1462 0.08 0.12 0.08 0.09 0.1008 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.503589 NA NA 0.103397 0.090338 NA 0.123 NA 3.698403 1282 8 74894748 74894748 A G UTR3 TMEM70 NM_017866:c.*892A>G,NM_001040613:c.*1365A>G NA NA UTR3 ENSG00000175606 ENST00000312184:c.*892A>G NA NA NA NA 8q21.11 NA NA NA NA rs2291217 0.21 0.21 0.195 0.216254 0.2863 0.1925 0.232 0.115 0.2945 0.29 0.19 0.21 0.11 0.3488 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60559 NA NA NA NA NA 0.268 NA 3.6982334 1282 2 160667004 160667004 G A intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs35590513 0.07 0.07 0.058 0.0754792 0.1004 0.0129 0.0865 0.0613 0.1258 0.09 0.01 0.11 0.06 0.0997 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.543999 3.543999 NA 0.101744 0.076714 NA 0.043 NA 3.698156 1282 3 107937360 107937360 C T intronic IFT57 NA NA NA intronic ENSG00000114446 NA NA NA NA NA 3q13.13 NA NA NA NA rs56273515 0.09 0.09 0.082 0.0902556 0.1064 0.1052 0.0836 0.0703 0.09 0.1 0.1 0.1 0.06 0.0906 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074244 NA NA 0.105 0.069678 ID=COSN166961;OCCURENCE=3(large_intestine) 0.08 NA 3.698 1282 16 706267 706267 G A intronic WDR90 NA NA NA intronic ENSG00000161996 NA NA NA NA NA 16p13.3 NA NA NA NA rs9933039 0.16 0.16 0.148 0.166733 0.0815 0.2956 0.1499 0.1846 0.1094 0.07 0.3 0.1 0.16 0.1365 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657939 NA NA 0.084022 0.134565 NA 0.087 NA 3.697978 1282 9 108612304 108612304 A G intergenic TMEM38B,ZNF462 dist=73412;dist=1013074 NA NA ncRNA_exonic ENSG00000228948 NA NA NA NA NA 9q31.2 NA NA NA NA rs9409069 0.48 0.48 0.285 0.482228 0.3022 0.623 0.4582 0.6188 0.3548 0.3 0.61 0.44 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824196 NA NA NA NA NA 0.203 NA 3.6978 1282 10 61612199 61612199 T C intronic CCDC6 NA NA NA intronic ENSG00000108091 NA NA NA NA NA 10q21.2 NA NA NA NA rs2271561 0.14 0.14 0.156 0.134385 0.3022 0.0258 0.1484 0.0166 0.2229 0.29 0.03 0.17 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.28684 3.28684 NA NA NA NA 0.065 NA 3.6978 1282 10 119036625 119036625 T C intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363279 0.16 0.16 0.149 0.172125 0.0865 0.3393 0.1816 0.084 0.2004 0.08 0.31 0.17 0.09 0.1268 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909526 NA NA 0.089016 0.080118 ID=COSN163775;OCCURENCE=1(breast) 0.109 NA 3.697684 1282 12 81112882 81112882 A C UTR3 MYF5 NM_005593:c.*52A>C NA NA UTR3 ENSG00000111049 ENST00000228644:c.*52A>C NA NA NA NA 12q21.31 NA NA NA NA rs11114581 0.11 0.11 0.094 0.10603 0.2237 0.0238 0.1196 0.0068 0.1943 0.23 0.03 0.14 0.01 0.1866 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422523 NA NA 0.22552 0.053504 NA 0.101 NA 3.6975134 1282 12 64383670 64383670 T C intronic SRGAP1 NA NA NA intronic ENSG00000196935 NA NA NA NA NA 12q14.2 NA NA Name=87 NA rs3741607 0.45 0.45 0.429 0.48722 0.4155 0.5397 0.5216 0.444 0.5409 0.42 0.52 0.48 0.39 0.4702 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.690131 1.690131 NA 0.416977 0.447571 NA 0.457 NA 3.697323 1282 2 103057892 103057892 A G intronic IL18RAP NA NA NA intronic ENSG00000115607 NA NA NA NA NA 2q12.1 NA NA NA NA rs11465702 0.09 0.09 0.083 0.0766773 0.1541 0.0129 0.0965 0.0598 0.0716 0.15 0.02 0.11 0.07 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089137 NA NA 0.148649 0.058526 NA 0.08 NA 3.697251 1282 2 30756196 30756196 A G intronic LCLAT1 NA NA NA intronic ENSG00000172954 NA NA NA NA NA 2p23.1 NA NA NA NA rs829624 0.11 0.11 0.113 0.0954473 0.1093 0.1369 0.0403 0.0968 0.0757 0.12 0.12 0.05 0.14 0.0928 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50783 NA NA 0.100698 0.101906 NA 0.181 NA 3.697202 1282 2 68402012 68402012 G T UTR3 PNO1 NM_020143:c.*78G>T NA NA UTR3 ENSG00000115946 ENST00000263657:c.*78G>T NA NA NA NA 2p14 NA NA NA NA rs1060842 0.73 0.73 0.717 0.771765 0.6362 0.6458 0.6873 0.9781 0.8221 0.65 0.65 0.68 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172909 NA NA NA NA NA 0.797 NA 3.6971334 1282 1 149100045 149100045 C T intergenic LOC645166,LOC388692 dist=146991;dist=179431 NA NA ncRNA_intronic ENSG00000179571 NA NA NA NA NA 1q21.2 NA NA NA NA rs9438388 0.26 0.26 0.236 0.235823 0.3032 0.249 0.245 0.1815 0.2198 0.3 0.24 0.25 0.2 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014784 NA NA NA NA NA 0.217 NA 3.6968 1282 10 88417724 88417724 C T intronic OPN4 NA NA NA intronic ENSG00000122375 NA NA NA NA NA 10q23.2 NA NA NA NA rs10788521 0.22 0.22 0.194 0.236422 0.3032 0.2778 0.1758 0.062 0.4039 0.3 0.27 0.17 0.08 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395166 NA NA NA NA NA 0.181 NA 3.6968 1282 15 85619248 85619248 C T intronic PDE8A NA NA NA intronic ENSG00000073417 NA NA NA NA NA 15q25.3 NA NA NA NA rs11631548 0.16 0.16 0.144 0.13119 0.3032 0.0466 0.1931 0.0166 0.1524 0.3 0.04 0.23 0.02 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190618 NA NA NA NA NA 0.094 NA 3.6968 1282 19 1080189 1080189 G C intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA NA NA NA rs2074453 0.42 0.42 0.399 0.438299 0.3032 0.5198 0.379 0.5363 0.4029 0.3 0.54 0.37 0.49 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992187 NA NA NA NA NA 0.297 NA 3.6968 1282 19 58115503 58115503 A G intronic ZNF530 NA NA NA intronic ENSG00000183647 NA NA NA NA NA 19q13.43 NA NA NA NA rs73062589 0.33 0.33 0.341 0.353035 0.3032 0.3155 0.2651 0.497 0.3108 0.3 0.25 0.27 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167461 NA NA NA NA NA 0.348 NA 3.6968 1282 1 151748425 151748425 C A intronic TDRKH NA NA NA intronic ENSG00000182134 NA NA NA NA NA 1q21.3 NA Name=MafK_(ab50322),MafF_(M8194) NA NA rs3923394 0.54 0.54 0.559 0.516973 0.6531 0.3194 0.4251 0.6074 0.5235 0.66 0.35 0.48 0.63 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.377831 NA NA 0.65022 0.640173 NA 0.464 NA 3.69668 1282 9 139912593 139912593 T C intronic ABCA2 NA NA NA intronic ENSG00000107331 NA NA NA NA NA 9q34.3 NA NA NA NA rs13283333 0.09 0.09 0.099 0.100639 0.1074 0.0327 0.098 0.1732 0.0675 0.09 0.04 0.09 0.16 0.0981 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.994227 NA NA 0.09785 0.189883 NA 0.188 NA 3.69665 1282 6 31107733 31107733 C T UTR3 PSORS1C1 NM_014068:c.*24C>T NA NA UTR3 ENSG00000204540 ENST00000259881:c.*24C>T,ENST00000547221:c.*24C>T,ENST00000481450:c.*24C>T NA NA NA NA 6p21.33 NA NA NA NA rs1966 0.24 0.24 0.214 0.252396 0.2097 0.3462 0.3329 0.1793 0.2413 0.21 0.29 0.31 0.18 0.2298 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191778 NA NA 0.197305 0.185308 NA 0.217 NA 3.6965284 1282 6 132168997 132168997 G T intronic ENPP1 NA NA NA intronic ENSG00000197594 NA NA NA NA NA 6q23.2 NA NA NA NA rs7773477 0.08 0.08 0.065 0.104034 0.0557 0.0069 0.0476 0.2534 0.092 0.05 0.01 0.05 0.24 0.2037 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678458 NA NA 0.044302 0.201997 NA 0.116 NA 3.696298 1282 1 19504300 19504300 G A intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs2066002 0.35 0.35 0.314 0.333067 0.3042 0.629 0.4078 0.0946 0.3272 0.29 0.65 0.37 0.09 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712278 NA NA NA NA NA 0.196 NA 3.6958 1282 3 62647904 62647904 T C intronic CADPS NA NA NA intronic ENSG00000163618 NA NA NA NA NA 3p14.2 NA NA NA NA rs11712073 0.21 0.21 0.202 0.21865 0.3042 0.003 0.2104 0.3487 0.183 0.29 0.01 0.2 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2629 NA NA NA NA NA 0.268 NA 3.6958 1282 4 113359883 113359883 A T intronic ALPK1 NA NA NA intronic ENSG00000073331 NA NA NA NA NA 4q25 NA NA NA NA rs231248 0.32 0.32 0.28 0.300519 0.3042 0.4286 0.2666 0.1891 0.3395 0.33 0.42 0.28 0.22 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.760639 1.760639 NA NA NA NA 0.283 NA 3.6958 1282 5 179291279 179291279 A G intronic TBC1D9B NA NA NA intronic ENSG00000197226 NA NA NA NA NA 5q35.3 NA NA NA NA rs172056 0.52 0.52 0.507 0.545327 0.3042 0.6716 0.5375 0.6929 0.4693 0.29 0.69 0.47 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873168 NA NA NA NA NA 0.428 NA 3.6958 1282 9 92017733 92017733 G A intronic SEMA4D NA NA NA intronic ENSG00000187764 NA NA NA NA NA 9q22.2 NA NA NA NA rs41287361 0.24 0.24 0.233 0.221246 0.3042 0.2331 0.2421 0.1089 0.2607 0.3 0.25 0.26 0.12 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477977 NA NA NA NA NA 0.232 NA 3.6958 1282 9 130931586 130931586 C A intronic CIZ1 NA NA NA intronic ENSG00000148337 NA NA NA NA NA 9q34.11 NA NA NA NA rs10987905 0.17 0.17 0.158 0.161941 0.3042 0.0377 0.1787 0.1263 0.18 0.29 0.03 0.18 0.14 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858023 NA NA NA NA NA 0.094 NA 3.6958 1282 10 97949572 97949572 A C intergenic ZNF518A,BLNK dist=26055;dist=1883 NA NA ncRNA_exonic ENSG00000229417 NA NA NA NA NA 10q24.1 NA NA NA NA rs11188656 0.18 0.18 0.151 0.158347 0.3042 0.0238 0.3329 0.0159 0.2157 0.31 0.03 0.35 0.03 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214882 NA NA NA NA NA 0.123 NA 3.6958 1282 11 3436211 3436211 G A intergenic LOC650368,TRPC2 dist=5833;dist=211479 NA NA ncRNA_exonic ENSG00000166492 NA NA NA NA NA 11p15.4 NA NA NA NA rs7118203 0.35 0.35 0.324 0.339856 0.3042 0.4692 0.3674 0.2277 0.3753 0.3 0.49 0.35 0.26 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.920631 NA NA NA NA NA 0.152 NA 3.6958 1282 11 3436392 3436392 G A intergenic LOC650368,TRPC2 dist=6014;dist=211298 NA NA ncRNA_intronic ENSG00000166492 NA NA NA NA NA 11p15.4 NA NA NA NA rs10833983 0.36 0.36 0.349 0.35603 0.3042 0.4683 0.3718 0.2874 0.3753 0.3 0.49 0.35 0.33 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.741367 NA NA NA NA NA 0.326 NA 3.6958 1282 18 34323855 34323855 T C intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs11878091 0.34 0.34 0.326 0.377995 0.3042 0.3244 0.389 0.4123 0.455 0.29 0.33 0.36 0.39 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352638 NA NA NA NA NA 0.391 NA 3.6958 1282 14 51371121 51371121 C T UTR3 ABHD12B NM_181814:c.*37C>T,NM_001206673:c.*37C>T NA NA UTR3 ENSG00000131969 ENST00000395752:c.*37C>T,ENST00000557345:c.*639C>T,ENST00000337334:c.*37C>T,ENST00000382029:c.*815C>T,ENST00000353130:c.*37C>T NA NA NA NA 14q22.1 NA NA NA NA rs4901065 0.3 0.3 0.279 0.283746 0.2028 0.4573 0.3876 0.1649 0.2751 0.21 0.47 0.38 0.18 0.2442 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483721 NA NA 0.191047 0.1532 NA 0.188 NA 3.6952864 1282 3 107884269 107884269 A G intronic IFT57 NA NA NA intronic ENSG00000114446 NA NA NA NA NA 3q13.12 NA NA NA NA rs62264150 0.09 0.09 0.083 0.0954473 0.1074 0.1052 0.085 0.0855 0.0941 0.1 0.1 0.1 0.07 0.0915 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42733 NA NA 0.10593 0.087154 NA 0.08 NA 3.69517 1283 1 32119431 32119431 T C intronic COL16A1 NA NA NA ncRNA_intronic ENSG00000235790 NA NA NA NA NA 1p35.2 NA Name=ZNF263 NA NA rs3817398 0.39 0.39 0.379 0.404952 0.5656 0.2173 0.4899 0.2837 0.5368 0.55 0.22 0.5 0.26 0.5107 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459767 NA NA 0.56208 0.308004 NA 0.493 NA 3.6949533 1283 1 7838113 7838113 A C intronic VAMP3 NA NA NA intronic ENSG00000049245 NA NA NA NA NA 1p36.23 NA NA NA NA rs697675 0.14 0.14 0.126 0.126198 0.1561 0.0556 0.098 0.2398 0.0348 0.16 0.04 0.12 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080648 NA NA 0.148963 0.227601 NA 0.109 NA 3.694937 1283 2 74604895 74604895 T C intronic DCTN1 NA NA NA intronic ENSG00000204843 NA NA NA NA NA 2p13.1 NA NA NA NA rs3815241 0.19 0.19 0.194 0.19369 0.0905 0.4276 0.1124 0.1172 0.2198 0.09 0.45 0.11 0.1 0.1285 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.680966 2.680966 NA 0.086087 0.114195 NA 0.123 NA 3.694913 1283 3 1444243 1444243 A G intronic CNTN6 NA NA NA intronic ENSG00000134115 NA NA NA NA NA 3p26.3 NA NA NA NA rs13326014 0.21 0.21 0.211 0.19389 0.3052 0.0089 0.2334 0.2405 0.1789 0.31 0.01 0.25 0.25 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72433 NA NA NA NA NA 0.174 NA 3.6948 1283 17 7990555 7990555 G C intronic ALOX12B NA NA NA intronic ENSG00000179477 NA NA NA NA NA 17p13.1 NA NA NA NA rs76102404 NA NA 0.013 0.282548 0.3052 0.2054 0.3184 0.3374 0.2393 NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817692 NA NA NA NA NA 0.174 NA 3.6948 1283 19 14772984 14772984 G T intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA NA NA 19p13.12 NA NA NA NA rs8111916 0.29 0.29 0.294 0.291733 0.3052 0.2649 0.2003 0.3419 0.3027 0.29 0.24 0.23 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483533 NA NA NA NA NA 0.312 NA 3.6948 1283 19 7976127 7976127 C G intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs56358830 0.11 0.11 0.102 0.103235 0.0895 0.1954 0.1239 0.0234 0.1155 0.11 0.18 0.12 0.02 0.1167 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896404 NA NA 0.099583 0.038085 NA 0.109 NA 3.694217 1283 3 183909163 183909163 C T intronic ABCF3 NA NA NA intronic ENSG00000145191,ENSG00000161204 NA NA NA NA NA 3q27.1 NA NA NA NA rs843339 0.34 0.34 0.32 0.337061 0.3062 0.5437 0.2983 0.1589 0.4243 0.3 0.56 0.3 0.16 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624508 NA NA NA NA NA 0.232 NA 3.6938 1283 3 195937977 195937977 A G intronic ZDHHC19 NA NA NA intronic ENSG00000163958 NA NA NA NA NA 3q29 NA NA NA NA rs13079891 0.27 0.27 0.247 0.288339 0.3062 0.4395 0.3228 0.0378 0.4284 0.31 0.4 0.31 0.05 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521147 NA NA NA NA NA 0.188 NA 3.6938 1283 7 77255941 77255941 T C intronic PTPN12 NA NA NA intronic ENSG00000127947 NA NA NA NA NA 7q11.23 NA NA NA NA rs17467232 0.22 0.22 0.213 0.228435 0.3062 0.1766 0.2291 0.1702 0.2802 0.3 0.19 0.19 0.16 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191488 NA NA NA NA NA 0.254 NA 3.6938 1283 7 134552634 134552634 G A intronic CALD1 NA NA NA intronic ENSG00000122786 NA NA NA NA NA 7q33 NA NA NA NA rs1452911 0.34 0.34 0.304 0.283147 0.3062 0.6587 0.3718 0.0121 0.1759 0.31 0.65 0.38 0.02 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253965 NA NA NA NA NA 0.196 NA 3.6938 1283 16 24567320 24567320 A G intronic RBBP6 NA NA NA intronic ENSG00000122257 NA NA NA NA NA 16p12.1 NA NA NA NA rs7202501 0.3 0.3 0.277 0.292732 0.3062 0.2649 0.379 0.2776 0.2669 0.31 0.28 0.33 0.31 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903368 NA NA NA NA NA 0.312 NA 3.6938 1283 16 24570757 24570757 T C intronic RBBP6 NA NA NA intronic ENSG00000122257 NA NA NA NA NA 16p12.1 NA NA NA NA rs3815906 0.26 0.26 0.22 0.242212 0.3062 0.2649 0.3631 0.0946 0.2669 0.31 0.28 0.32 0.12 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.449824 NA NA NA NA NA 0.232 NA 3.6938 1283 16 28618545 28618545 G T intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA NA NA 16p11.2 NA NA NA NA rs2925624 0.23 0.23 0.165 0.23123 0.3062 0.0843 0.3876 0.2284 0.1984 0.32 0.09 0.3 0.2 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553094 NA 0 NA NA NA 0.145 NA 3.6938 1283 22 41621714 41621714 G A intronic L3MBTL2 NA NA NA intronic ENSG00000100395 NA NA NA NA NA 22q13.2 NA NA NA NA rs2179744 0.35 0.35 0.3 0.371805 0.3062 0.4206 0.4769 0.3116 0.3957 0.31 0.35 0.48 0.34 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02469 NA NA NA NA NA 0.428 NA 3.6938 1283 20 62305274 62305274 G A ncRNA_intronic RTEL1-TNFRSF6B NA NA NA intronic ENSG00000026036,ENSG00000258366 NA NA NA NA NA 20q13.33 NA NA NA NA rs2297437 0.25 0.25 0.235 0.29373 0.1909 0.1667 0.3256 0.3759 0.3967 0.18 0.16 0.33 0.4 0.2491 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.019715 NA NA 0.199651 0.350204 NA 0.326 NA 3.6936823 1283 14 70712274 70712274 A G downstream ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs1812858 0.33 0.33 0.285 0.336661 0.4732 0.1677 0.4957 0.1785 0.4714 0.48 0.17 0.48 0.19 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281904 NA NA NA NA NA 0.283 NA 3.6934666 1283 4 27004011 27004011 G A exonic STIM2 NA synonymous SNV STIM2:NM_001169117:exon6:c.G798A:p.Q266Q,STIM2:NM_001169118:exon6:c.G798A:p.Q266Q,STIM2:NM_020860:exon6:c.G798A:p.Q266Q exonic ENSG00000109689 NA synonymous SNV ENSG00000109689:ENST00000237364:exon6:c.G1059A:p.Q353Q,ENSG00000109689:ENST00000382009:exon6:c.G1059A:p.Q353Q,ENSG00000109689:ENST00000412829:exon6:c.G1059A:p.Q353Q,ENSG00000109689:ENST00000463501:exon6:c.G639A:p.Q213Q,ENSG00000109689:ENST00000465503:exon6:c.G798A:p.Q266Q,ENSG00000109689:ENST00000467011:exon6:c.G798A:p.Q266Q,ENSG00000109689:ENST00000467087:exon6:c.G798A:p.Q266Q Score=532;Name=lod=194 NA 4p15.2 NA NA NA NA rs10028164 0.98 0.98 0.977 0.977636 0.993 1 0.9683 0.9387 0.998 0.99 1 0.96 0.94 0.9884 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691579 NA NA 0.99186 0.937585 NA 0.957 NA 3.6934066 1283 20 1638231 1638231 G A intronic SIRPG NA NA NA intronic ENSG00000089012 NA NA NA NA NA 20p13 NA NA NA NA rs66989667 0.11 0.11 0.114 0.0954473 0.1481 0.0437 0.0836 0.1422 0.0399 0.14 0.05 0.1 0.14 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781694 NA NA 0.158705 0.12789 NA 0.13 NA 3.693195 1283 20 29978212 29978212 G C intronic DEFB119 NA NA NA intronic ENSG00000180483 NA NA NA NA NA 20q11.21 NA NA NA NA rs73108009 0.05 0.05 0.051 0.043131 0.1113 0.001 0.0432 0.0227 0.044 0.1 NA 0.06 0.01 0.0837 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27546 NA NA 0.11186 0.049024 NA 0.029 NA 3.69314 1283 1 229750343 229750343 T G intronic TAF5L NA NA NA intronic ENSG00000135801 NA NA NA NA NA 1q42.13 NA NA NA NA rs2273574 0.26 0.26 0.242 0.26278 0.3072 0.3085 0.2248 0.0893 0.4315 0.31 0.31 0.28 0.09 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857221 NA NA NA NA NA 0.196 NA 3.6928 1283 4 56448110 56448110 G A intronic PDCL2 NA NA NA intronic ENSG00000163440 NA NA NA NA NA 4q12 NA NA NA NA rs62310866 0.2 0.2 0.154 0.207468 0.3072 0.1012 0.2248 0.0696 0.3885 0.31 0.1 0.26 0.08 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687082 NA NA NA NA NA 0.203 NA 3.6928 1283 4 146297328 146297328 G A intergenic OTUD4,SMAD1 dist=196496;dist=105623 NA NA ncRNA_exonic ENSG00000251333 NA NA NA NA NA 4q31.21 NA NA NA NA rs2044276 0.27 0.27 0.262 0.299121 0.3072 0.2986 0.2968 0.1997 0.4274 0.31 0.27 0.28 0.22 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345666 NA NA NA NA NA 0.341 NA 3.6928 1283 14 81470024 81470024 A G intronic TSHR NA NA NA intronic ENSG00000165409 NA NA NA NA NA 14q31.1 NA NA NA NA rs55960644 0.38 0.38 0.363 0.357628 0.3072 0.5496 0.4467 0.2443 0.3016 0.31 0.57 0.4 0.25 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21821 NA NA NA NA NA 0.478 NA 3.6928 1283 15 22789021 22789021 T C intergenic GOLGA6L1,TUBGCP5 dist=43019;dist=44374 NA NA ncRNA_intronic ENSG00000259400 NA NA NA NA NA 15q11.2 NA NA NA NA rs12102024 0.41 0.41 0.404 0.390775 0.3072 0.4048 0.2738 0.5794 0.2904 0.3 0.44 0.3 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033655 NA NA NA NA NA 0.348 NA 3.6928 1283 15 57896366 57896366 A T intronic GCOM1,MYZAP NA NA NA intronic ENSG00000137878,ENSG00000255529,ENSG00000263155 NA NA NA NA NA 15q21.3 NA NA NA NA rs2172611 0.42 0.42 0.416 0.452077 0.3072 0.5486 0.428 0.4977 0.4571 0.3 0.52 0.4 0.51 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018246 NA NA NA NA NA 0.486 NA 3.6928 1283 20 31876485 31876485 T C intronic BPIFB1 NA NA NA intronic ENSG00000125999 NA NA NA NA NA 20q11.21 NA NA NA NA rs2295576 0.43 0.43 0.469 0.433706 0.3072 0.244 0.4337 0.8654 0.1759 0.29 0.26 0.43 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121878 NA NA NA NA NA 0.449 NA 3.6928 1283 1 228431095 228431095 A G exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon10:c.A3141G:p.T1047T,ENSG00000154358:ENST00000422127:exon10:c.A3141G:p.T1047T,ENSG00000154358:ENST00000570156:exon11:c.A3417G:p.T1139T NA NA 1q42.13 NA NA NA NA rs1771455 0.63 0.63 0.603 0.616613 0.6412 0.5992 0.6542 0.7095 0.4571 0.63 0.59 0.64 0.65 0.6499 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.076205 NA NA 0.682791 0.735492 NA 0.601 NA 3.6927756 1283 14 20824859 20824859 T C intronic PARP2 NA NA NA intronic ENSG00000129484 NA NA NA NA NA 14q11.2 NA NA NA NA rs878156 0.2 0.2 0.198 0.228035 0.0915 0.1925 0.1744 0.4387 0.1585 0.09 0.17 0.16 0.42 0.1331 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.541644 1.541644 NA 0.08299 0.376324 NA 0.159 NA 3.69241 1283 1 228434395 228434395 T C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon13:c.T3924C:p.A1308A,ENSG00000154358:ENST00000422127:exon13:c.T3924C:p.A1308A,ENSG00000154358:ENST00000570156:exon14:c.T4200C:p.A1400A NA NA 1q42.13 NA NA NA NA rs7517088 0.63 0.63 0.581 0.617612 0.6412 0.5992 0.6542 0.7133 0.4571 0.63 0.59 0.64 0.65 0.6498 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138325 NA NA 0.683298 0.730937 ID=COSM146810;OCCURENCE=1(stomach) 0.616 NA 3.6923686 1283 19 58929200 58929200 A C UTR3 ZNF584 NM_173548:c.*49A>C NA NA UTR3 ENSG00000171574 ENST00000306910:c.*49A>C,ENST00000593920:c.*49A>C,ENST00000599238:c.*1046A>C NA NA NA NA 19q13.43 NA NA NA NA rs35652377 0.16 0.16 0.171 0.15016 0.2485 0.0546 0.1772 0.118 0.1718 0.23 0.06 0.19 0.15 0.1861 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887325 NA NA 0.206491 0.115751 NA 0.181 NA 3.6922424 1283 19 46733912 46733912 A G ncRNA_intronic RNU6-66P NA NA NA intronic ENSG00000188293 NA NA NA NA NA 19q13.32 NA NA NA NA rs2286802 0.55 0.55 0.569 0.53754 0.6412 0.5188 0.4135 0.5212 0.5603 0.63 0.51 0.48 0.54 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974668 NA NA NA NA NA 0.522 NA 3.6921333 1283 19 46733916 46733916 G A ncRNA_intronic RNU6-66P NA NA NA intronic ENSG00000188293 NA NA NA NA NA 19q13.32 NA NA NA NA rs2286803 0.55 0.55 0.562 0.536342 0.6412 0.5169 0.4135 0.5197 0.5583 0.63 0.51 0.48 0.53 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430776 NA NA NA NA NA 0.522 NA 3.6921333 1283 16 20634775 20634775 T C UTR3 ACSM1 NM_052956:c.*33A>G NA NA UTR3 ENSG00000166743 ENST00000219151:c.*33A>G,ENST00000307493:c.*33A>G,ENST00000519745:c.*820A>G,ENST00000524149:c.*33A>G NA NA NA NA 16p12.3 NA NA NA NA rs3087812 0.31 0.31 0.322 0.346645 0.1799 0.3492 0.1916 0.5424 0.3609 0.2 0.34 0.2 0.52 0.2603 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146767 NA NA 0.201047 0.497047 NA 0.355 NA 3.6920864 1283 12 123810873 123810873 G A exonic SBNO1 NA synonymous SNV SBNO1:NM_001167856:exon13:c.C1701T:p.I567I,SBNO1:NM_018183:exon13:c.C1698T:p.I566I exonic ENSG00000139697 NA synonymous SNV ENSG00000139697:ENST00000267176:exon13:c.C1698T:p.I566I,ENSG00000139697:ENST00000420886:exon13:c.C1701T:p.I567I,ENSG00000139697:ENST00000602398:exon14:c.C1701T:p.I567I,ENSG00000139697:ENST00000602750:exon14:c.C1698T:p.I566I NA NA 12q24.31 NA NA NA NA rs61388686 0.53 0.53 0.484 0.493411 0.664 0.7004 0.5836 0.0567 0.6309 0.67 0.7 0.59 0.08 0.6166 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951594 NA NA 0.694186 0.157286 NA 0.42 NA 3.6918806 1283 17 66147562 66147562 C G intergenic LINC00674,LOC440461 dist=15492;dist=47239 NA NA ncRNA_intronic ENSG00000267023 NA NA NA NA NA 17q24.2 NA NA NA NA rs6501520 0.45 0.45 0.44 0.48722 0.3082 0.4226 0.3876 0.73 0.4806 0.31 0.47 0.42 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017364 NA NA NA NA NA 0.536 NA 3.6918 1283 1 204945618 204945618 G A intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs12124296 0.22 0.22 0.211 0.213259 0.3082 0.2649 0.2219 0.0424 0.2873 0.31 0.22 0.27 0.05 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206355 NA 0.09 NA NA NA 0.246 NA 3.6918 1283 3 49765483 49765483 C G intronic IP6K1 NA NA NA intronic ENSG00000176095 NA NA NA NA NA 3p21.31 NA NA NA NA rs2307021 0.2 0.2 0.206 0.209465 0.3082 0.1538 0.1931 0.1044 0.319 0.3 0.17 0.19 0.09 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.015963 2.015963 NA NA NA NA 0.138 NA 3.6918 1283 6 123319382 123319382 C T intronic CLVS2 NA NA NA intronic ENSG00000146352 NA NA NA NA NA 6q22.31 NA NA NA NA rs11154131 0.21 0.21 0.208 0.168131 0.3082 0.0933 0.2349 0.1498 0.0787 0.3 0.11 0.27 0.16 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887018 NA NA NA NA NA 0.225 NA 3.6918 1283 19 35260281 35260281 G A intronic ZNF599 NA NA NA intronic ENSG00000153896 NA NA NA NA NA 19q13.11 NA NA NA NA rs2242129 0.29 0.29 0.29 0.309505 0.3082 0.1865 0.3285 0.4002 0.3016 0.31 0.16 0.31 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736605 NA NA NA NA NA 0.304 NA 3.6918 1283 19 53122472 53122472 T G intronic ZNF83 NA NA NA intronic ENSG00000167766 NA NA NA NA NA 19q13.41 NA NA NA NA rs35706759 0.4 0.4 0.327 0.363618 0.3082 0.5595 0.4957 0.3056 0.2035 0.31 0.58 0.42 0.3 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23413 NA NA NA NA NA 0.275 NA 3.6918 1283 4 138449812 138449812 C G intronic PCDH18 NA NA NA intronic ENSG00000189184 NA NA NA NA NA 4q28.3 NA Name=GATA-2 NA NA rs10006580 0.52 0.52 0.536 0.552516 0.4155 0.5079 0.4452 0.8336 0.4356 0.41 0.49 0.41 0.83 0.4714 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243634 NA NA 0.421395 0.756241 NA 0.667 NA 3.691705 1283 3 197597194 197597194 A G intronic LRCH3 NA NA NA intronic ENSG00000186001 NA NA NA NA NA 3q29 NA NA NA NA rs11185486 0.16 0.16 0.159 0.177316 0.0974 0.244 0.1282 0.2474 0.1309 0.1 0.22 0.11 0.22 0.1172 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814756 NA NA 0.093721 0.231956 NA 0.123 NA 3.691679 1283 16 4940809 4940809 A G exonic PPL NA synonymous SNV PPL:NM_002705:exon17:c.T2082C:p.C694C exonic ENSG00000118898 NA synonymous SNV ENSG00000118898:ENST00000592772:exon5:c.T345C:p.C115C,ENSG00000118898:ENST00000345988:exon17:c.T2082C:p.C694C,ENSG00000118898:ENST00000590782:exon17:c.T2076C:p.C692C Score=539;Name=lod=206 NA 16p13.3 NA NA NA NA rs2471844 0.93 0.93 0.926 0.928914 0.997 1 0.9769 0.7451 1 1 1 0.98 0.73 0.9793 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873951 NA NA 0.99872 0.779197 NA 0.942 NA 3.6916466 1283 X 1419571 1419571 C G intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA Name=USF-1,TBP,NANOG_(SC-33759) NA NA rs28484864 0.73 0.73 NA NA NA NA NA NA NA 0.65 0.79 0.8 0.72 0.6748 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975126 NA NA 0.634056 0.727958 NA 0.645 NA 3.691144 1283 6 24871032 24871032 G A intronic FAM65B NA NA NA intronic ENSG00000111913 NA NA NA NA NA 6p22.3 NA NA NA NA rs2817749 0.18 0.18 0.149 0.18111 0.1511 0.1597 0.1945 0.1936 0.2076 0.16 0.19 0.17 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325346 NA NA 0.157762 0.177023 NA 0.13 NA 3.691138 1283 15 45444518 45444518 A G exonic DUOX1 NA synonymous SNV DUOX1:NM_175940:exon25:c.A3228G:p.T1076T,DUOX1:NM_017434:exon26:c.A3228G:p.T1076T exonic ENSG00000137857 NA synonymous SNV ENSG00000137857:ENST00000561166:exon15:c.A2166G:p.T722T,ENSG00000137857:ENST00000389037:exon25:c.A3228G:p.T1076T,ENSG00000137857:ENST00000321429:exon26:c.A3228G:p.T1076T NA NA 15q21.1 NA NA NA NA rs1706804 0.56 0.56 0.558 0.576677 0.665 0.4921 0.513 0.466 0.7679 0.67 0.46 0.57 0.49 0.6327 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867161 NA NA 0.677873 0.481574 ID=COSM147897;OCCURENCE=1(stomach) 0.587 NA 3.6910936 1283 1 111892905 111892905 T C intronic PIFO NA NA NA intronic ENSG00000173947 NA NA NA NA NA 1p13.2 NA NA NA NA rs3820443 0.33 0.33 0.35 0.346246 0.3091 0.3661 0.1888 0.3949 0.41 0.32 0.35 0.24 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482558 NA NA NA NA ID=COSN163185;OCCURENCE=1(breast) 0.261 NA 3.6909 1283 2 242542298 242542298 T C intronic THAP4 NA NA NA intronic ENSG00000176946 NA NA NA NA NA 2q37.3 NA NA NA NA rs6437269 0.36 0.36 0.372 0.398163 0.3091 0.4306 0.3415 0.4054 0.4867 0.29 0.4 0.33 0.43 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731258 NA NA NA NA NA 0.464 NA 3.6909 1283 3 49735746 49735746 C G intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA rs11130214 0.23 0.23 0.239 0.2498 0.3091 0.1518 0.2061 0.2511 0.319 0.3 0.17 0.2 0.22 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303428 NA NA NA NA NA 0.181 NA 3.6909 1283 5 101816228 101816228 G A intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs10041652 0.18 0.18 0.142 0.154353 0.3091 0.1468 0.1671 0.0219 0.1728 0.3 0.14 0.2 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090514 NA NA NA NA NA 0.239 NA 3.6909 1283 5 136969637 136969637 A G intronic KLHL3 NA NA NA intronic ENSG00000146021 NA NA NA NA NA 5q31.2 NA NA NA NA rs7713180 0.4 0.4 0.39 0.395168 0.3091 0.4891 0.2896 0.5045 0.3139 0.31 0.51 0.3 0.47 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64321 NA NA NA NA NA 0.319 NA 3.6909 1283 8 23307580 23307580 G T intronic ENTPD4 NA NA NA intronic ENSG00000197217 NA NA NA NA NA 8p21.2 NA NA NA NA rs11777391 0.36 0.36 0.36 0.376997 0.3091 0.4355 0.2608 0.4221 0.408 0.31 0.44 0.28 0.42 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.909045 1.909045 NA NA NA NA 0.471 NA 3.6909 1283 8 110439150 110439150 A G intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs13264576 0.32 0.32 0.227 0.310903 0.3091 0.3929 0.4755 0.146 0.3344 0.3 0.41 0.42 0.16 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455755 NA NA NA NA NA 0.297 NA 3.6909 1283 8 110439166 110439166 A G intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs13264587 0.32 0.32 0.246 0.310903 0.3091 0.3929 0.4755 0.146 0.3344 0.31 0.41 0.42 0.16 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570188 NA NA NA NA NA 0.29 NA 3.6909 1283 10 81065201 81065201 G A intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1250558 0.28 0.28 0.247 0.260184 0.3091 0.4147 0.2536 0.0159 0.3855 0.31 0.48 0.26 0.02 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639356 NA NA NA NA NA 0.283 NA 3.6909 1283 12 6969731 6969731 A G intronic USP5 NA NA NA intronic ENSG00000111667 NA NA NA NA NA 12p13.31 NA NA NA NA rs2071059 0.3 0.3 0.29 0.310503 0.3091 0.1994 0.2666 0.4334 0.2914 0.31 0.17 0.32 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296885 NA NA NA NA NA 0.246 NA 3.6909 1283 13 32818070 32818070 A G intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs2806624 0.16 0.16 0.126 0.127796 0.3091 0.004 0.2176 0.0234 0.1462 0.32 0.01 0.23 0.02 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433559 NA NA NA NA NA 0.072 NA 3.6909 1283 19 15038355 15038355 G T intergenic OR7A17,OR7C2 dist=46188;dist=13946 NA NA ncRNA_exonic ENSG00000176923 NA NA NA NA NA 19p13.12 NA NA NA NA rs4808693 0.29 0.29 0.258 0.259185 0.3091 0.4435 0.255 0.0726 0.273 0.31 0.43 0.28 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358099 NA NA NA NA NA 0.239 NA 3.6909 1283 19 15038586 15038586 T C intergenic OR7A17,OR7C2 dist=46419;dist=13715 NA NA ncRNA_exonic ENSG00000176923 NA NA NA NA NA 19p13.12 NA NA NA NA rs4808694 0.28 0.28 0.252 0.258786 0.3091 0.4435 0.255 0.0711 0.273 0.31 0.43 0.28 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.787843 2.787843 NA NA NA NA 0.232 NA 3.6909 1283 19 49621423 49621423 C T intronic LIN7B NA NA NA intronic ENSG00000104863 NA NA NA NA NA 19q13.33 NA NA NA NA rs4801794 0.21 0.21 0.211 0.22504 0.3091 0.0575 0.1628 0.2496 0.3221 0.31 0.06 0.19 0.24 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130905 NA NA NA NA NA 0.167 NA 3.6909 1283 2 44172444 44172444 A C intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA Name=5 NA rs28394191 0.61 0.61 0.6 0.607628 0.4125 0.9633 0.585 0.5522 0.5327 0.4 0.96 0.52 0.59 0.4959 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.899405 2.899405 NA 0.400791 0.544258 NA 0.558 NA 3.690809 1283 5 132267859 132267859 A T intronic AFF4 NA NA NA intronic ENSG00000072364 NA NA NA NA NA 5q31.1 NA NA NA NA rs56157864 0.1 0.1 NA 0.105232 0.1451 0.1141 0.0937 0.0144 0.1861 0.14 0.12 0.11 0.02 0.1643 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42279 NA NA NA NA NA NA NA 3.6906 1283 10 50902469 50902469 T G intronic C10orf53 NA NA NA UTR3 ENSG00000178645 ENST00000374113:c.*465T>G NA NA NA NA 10q11.23 NA NA NA NA rs2278561 0.37 0.37 0.367 0.35603 0.4761 0.1409 0.3732 0.3707 0.4223 0.5 0.16 0.36 0.4 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37407 1.37407 NA NA NA NA 0.486 NA 3.6905667 1283 5 7757705 7757705 T C intronic ADCY2 NA NA NA intronic ENSG00000078295 NA NA NA NA NA 5p15.31 Score=841;Name=V$OCT1_05 NA NA NA rs4072341 0.47 0.47 0.445 0.488019 0.4324 0.3423 0.5922 0.7012 0.3333 0.41 0.32 0.53 0.7 0.4485 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678914 NA NA 0.428605 0.678847 NA 0.37 NA 3.690495 1283 20 20208850 20208850 C T intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs10485596 0.07 0.07 0.054 0.0814696 0.0964 0.0595 0.1167 0.0182 0.1493 0.1 0.05 0.11 0.01 0.1079 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313778 NA NA 0.105465 0.038357 NA 0.109 NA 3.690235 1283 20 25276343 25276343 G A intronic ABHD12,PYGB NA NA NA intronic ENSG00000100994,ENSG00000100997 NA NA NA NA NA 20p11.21 NA NA Name=7 NA rs2258728 0.55 0.55 0.527 0.533147 0.4284 0.9107 0.3372 0.4501 0.5031 0.43 0.93 0.35 0.44 0.4555 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559829 NA NA 0.426047 0.42828 NA 0.486 NA 3.690053 1283 3 172994628 172994628 T G intergenic SPATA16,NLGN1 dist=135570;dist=121616 NA NA ncRNA_intronic ENSG00000237473 NA NA NA NA NA 3q26.31 NA NA NA NA rs4894609 0.41 0.41 0.403 0.429513 0.3101 0.5685 0.4251 0.4327 0.408 0.3 0.55 0.37 0.46 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701551 NA NA NA NA NA 0.406 NA 3.6899 1283 15 98688071 98688071 T C intergenic ARRDC4,FAM169B dist=171003;dist=292320 NA NA ncRNA_intronic ENSG00000259199 NA NA NA NA NA 15q26.3 NA NA NA NA rs8025763 0.2 0.2 0.195 0.194489 0.3101 0.1865 0.2046 0.0439 0.2802 0.32 0.15 0.23 0.06 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116284 NA NA NA NA NA 0.29 NA 3.6899 1283 1 22329645 22329645 T C intronic CELA3A NA NA NA intronic ENSG00000142789 NA NA NA NA NA 1p36.12 NA NA NA NA rs4543768 0.46 0.46 0.379 0.526757 0.3101 0.6389 0.5605 0.7005 0.3753 0.26 0.58 0.49 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94208 NA NA NA NA NA 0.384 NA 3.6899 1283 3 49849723 49849723 G A intronic UBA7 NA NA NA intronic ENSG00000182179 NA NA NA NA NA 3p21.31 NA NA NA NA rs1799843 0.23 0.23 0.244 0.257987 0.3101 0.1498 0.2104 0.2632 0.3425 0.3 0.17 0.2 0.23 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.729985 3.729985 NA NA NA NA 0.196 NA 3.6899 1283 3 126219388 126219388 C T intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA NA NA NA rs62266268 0.2 0.2 0.213 0.216853 0.3101 0.005 0.2003 0.2602 0.2924 0.32 0.01 0.23 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374254 NA NA NA NA NA 0.304 NA 3.6899 1283 10 81067040 81067040 C T intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1250554 0.28 0.28 0.25 0.260583 0.3101 0.4147 0.2522 0.0159 0.3875 0.31 0.48 0.26 0.02 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265504 NA NA NA NA NA 0.29 NA 3.6899 1283 14 23312718 23312718 C T intronic MMP14 NA NA NA intronic ENSG00000157227 NA NA NA NA NA 14q11.2 NA NA NA NA rs2236303 0.32 0.32 0.268 0.282748 0.3101 0.499 0.389 0.0628 0.2536 0.31 0.5 0.36 0.08 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169336 NA NA NA NA NA 0.268 NA 3.6899 1283 22 18649922 18649922 A G intronic USP18 NA NA NA intronic ENSG00000184979 NA NA NA NA NA 22q11.21 NA NA NA NA rs9605536 0.35 0.35 0.331 0.361821 0.3101 0.1637 0.3184 0.6301 0.2873 0.33 0.16 0.31 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359379 NA NA NA NA NA 0.478 NA 3.6899 1283 18 28728411 28728411 C T intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs3213883 0.33 0.33 0.314 0.297125 0.2137 0.5675 0.3516 0.239 0.1442 0.2 0.58 0.32 0.25 0.2435 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815802 NA NA 0.186279 0.232864 ID=COSN165630;OCCURENCE=1(breast) 0.246 NA 3.6898543 1283 15 79217631 79217631 A G intronic CTSH NA NA NA intronic ENSG00000103811 NA NA NA NA NA 15q25.1 NA NA NA NA rs2289695 0.15 0.15 0.143 0.132188 0.1004 0.2817 0.1081 0.1036 0.0665 0.1 0.29 0.1 0.09 0.1132 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19041 NA NA 0.096553 0.097678 NA 0.145 NA 3.689847 1283 4 89018565 89018565 A G intronic ABCG2 NA NA NA intronic ENSG00000118777 NA NA NA NA NA 4q22.1 NA NA Name=40 NA rs2231157 0.32 0.32 0.306 0.309505 0.4394 0.3165 0.3501 0.0893 0.4376 0.44 0.35 0.36 0.1 0.4063 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168619 NA NA 0.464535 0.132093 NA 0.326 NA 3.689765 1283 2 140426628 140426628 A G intergenic YY1P2,LRP1B dist=769884;dist=562368 NA NA ncRNA_exonic ENSG00000235232 NA NA NA NA NA 2q22.1 NA NA NA NA rs1837162 0.4 0.4 0.384 0.435703 0.3111 0.6954 0.5245 0.1528 0.6155 0.29 0.72 0.47 0.15 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61587 NA NA NA NA NA 0.333 NA 3.6889 1283 3 159604214 159604214 T C intronic IQCJ-SCHIP1,SCHIP1 NA NA NA intronic ENSG00000151967,ENSG00000250588 NA NA NA NA NA 3q25.33 NA NA NA NA rs33055 0.42 0.42 0.378 0.42492 0.3111 0.7401 0.4524 0.1399 0.5828 0.31 0.76 0.42 0.18 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66732 NA NA NA NA NA 0.348 NA 3.6889 1283 5 101795556 101795556 G A intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs11749193 0.18 0.18 0.149 0.154553 0.3111 0.1478 0.1671 0.0204 0.1728 0.3 0.14 0.19 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.033966 NA NA NA NA NA 0.239 NA 3.6889 1283 5 138456994 138456994 G A intronic SIL1 NA NA NA intronic ENSG00000120725 NA NA NA NA NA 5q31.2 NA NA NA NA rs11750382 0.21 0.21 0.192 0.207268 0.3111 0.1478 0.3098 0.0325 0.3252 0.32 0.14 0.31 0.04 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480175 NA NA NA NA NA 0.181 NA 3.6889 1283 6 29769063 29769063 T A intergenic LOC554223,HLA-G dist=3479;dist=25693 NA NA ncRNA_exonic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs885937 0.36 0.36 0.365 0.384585 0.3111 0.1954 0.3703 0.5991 0.3753 0.31 0.24 0.36 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150972 NA NA NA NA NA 0.399 NA 3.6889 1283 6 29769507 29769507 A T intergenic LOC554223,HLA-G dist=3923;dist=25249 NA NA ncRNA_exonic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs1632996 0.36 0.36 0.368 0.384585 0.3111 0.1954 0.3703 0.5991 0.3753 0.31 0.24 0.36 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623817 NA NA NA NA NA 0.399 NA 3.6889 1283 7 5922056 5922056 T C intronic OCM NA NA NA intronic ENSG00000122543 NA NA NA NA NA 7p22.1 NA NA NA NA rs13236282 0.32 0.32 0.291 0.347244 0.3111 0.5317 0.2925 0.1891 0.4468 0.3 0.46 0.26 0.22 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426082 NA NA NA NA NA 0.319 NA 3.6889 1283 18 9886567 9886567 T G intronic TXNDC2 NA NA NA UTR3 ENSG00000168454 ENST00000426718:c.*124T>G NA NA NA NA 18p11.22 NA NA NA NA rs62078799 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5361 NA NA NA NA NA NA NA 3.6886667 1283 17 4937982 4937982 T C UTR5 SLC52A1 NM_001104577:c.-81A>G,NM_017986:c.-81A>G NA NA UTR5 ENSG00000132517 ENST00000254853:c.-81A>G,ENST00000512825:c.-81A>G,ENST00000424747:c.-81A>G NA NA NA NA 17p13.2 NA NA NA NA rs346824 0.58 0.58 0.573 0.560104 0.6451 0.2361 0.6455 0.8366 0.3722 0.64 0.23 0.66 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198117 NA NA NA NA NA 0.746 NA 3.6882334 1283 7 1197736 1197736 C T intronic ZFAND2A NA NA NA intronic ENSG00000178381 NA NA NA NA NA 7p22.3 NA NA NA NA rs28685743 0.12 0.12 0.124 0.108427 0.1412 0.0278 0.1772 0.0847 0.1411 0.15 0.03 0.15 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81977 NA NA 0.170647 0.089595 NA 0.123 NA 3.688153 1283 6 109763040 109763040 G C intronic SMPD2 NA NA NA intronic ENSG00000135587 NA NA NA NA NA 6q21 NA NA NA NA rs35969918 0.22 0.22 0.224 0.202676 0.3121 0.1617 0.196 0.1377 0.2249 0.3 0.2 0.22 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090085 NA NA NA NA NA 0.188 NA 3.6879 1283 9 135412913 135412913 G A intronic C9orf171 NA NA NA intronic ENSG00000188523 NA NA NA NA NA 9q34.13 NA NA NA NA rs13286286 0.29 0.29 0.262 0.262181 0.3121 0.2907 0.2622 0.2126 0.2485 0.32 0.31 0.3 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777026 NA NA NA NA NA 0.261 NA 3.6879 1283 10 71264325 71264325 G A intronic TSPAN15 NA NA NA intronic ENSG00000099282 NA NA NA NA NA 10q22.1 NA NA NA NA rs1652804 0.34 0.34 0.334 0.345447 0.3121 0.1567 0.3343 0.5477 0.3088 0.32 0.14 0.38 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575925 NA NA NA NA NA 0.37 NA 3.6879 1283 16 72048632 72048632 A G intronic DHODH NA NA NA intronic ENSG00000102967 NA NA NA NA NA 16q22.2 NA NA NA NA rs8062895 0.4 0.4 0.342 0.373203 0.3121 0.6726 0.5389 0.1868 0.2618 0.31 0.66 0.49 0.19 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673454 NA NA NA NA NA 0.254 NA 3.6879 1283 17 67513055 67513055 A G intronic MAP2K6 NA NA NA intronic ENSG00000108984 NA NA NA NA NA 17q24.3 NA Name=PU.1,BATF,YY1 NA NA rs2251855 0.43 0.43 0.416 0.428514 0.4374 0.4573 0.3703 0.4228 0.4387 0.44 0.44 0.37 0.44 0.4367 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928288 NA NA 0.438241 0.412165 NA 0.442 NA 3.687659 1283 8 27287997 27287997 T A intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs2241653 0.15 0.15 0.12 0.115815 0.171 0.1161 0.2118 0.0741 0.047 0.16 0.12 0.22 0.1 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042879 NA NA 0.14142 0.125 NA 0.138 NA 3.68758 1283 1 155838267 155838267 T C exonic SYT11 NA synonymous SNV SYT11:NM_152280:exon2:c.T546C:p.H182H exonic ENSG00000132718 NA synonymous SNV ENSG00000132718:ENST00000368324:exon2:c.T546C:p.H182H Score=533;Name=lod=196 NA 1q22 NA NA NA NA rs822521 0.94 0.94 0.941 0.93111 1 1 0.9856 0.7466 1 1 1 0.98 0.76 0.9799 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599482 NA NA 0.999302 0.78098 NA 0.971 NA 3.6874646 1283 2 17698678 17698678 A G exonic RAD51AP2 NA synonymous SNV RAD51AP2:NM_001099218:exon1:c.T1005C:p.S335S exonic ENSG00000214842 NA synonymous SNV ENSG00000214842:ENST00000399080:exon1:c.T1005C:p.S335S NA NA 2p24.2 NA NA NA NA rs665312 0.6 0.6 0.57 0.598842 0.6491 0.8839 0.6585 0.1611 0.8027 0.64 0.87 0.65 0.2 0.672 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062136 NA NA 0.658456 0.290243 NA 0.514 NA 3.6871106 1283 1 149037624 149037624 T C intergenic LOC645166,LOC388692 dist=84570;dist=241852 NA NA ncRNA_intronic ENSG00000203825 NA NA NA NA NA 1q21.2 NA NA NA NA rs7533720 0.5 0.5 0.463 0.53774 0.3131 0.6131 0.4986 0.6589 0.5552 0.33 0.62 0.46 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755029 NA NA NA NA NA 0.478 NA 3.6869 1283 2 220045035 220045035 G A intronic FAM134A NA NA NA intronic ENSG00000144567 NA NA NA NA NA 2q35 NA NA NA NA rs7577690 0.24 0.24 0.206 0.217851 0.3131 0.2252 0.3429 0.0537 0.2454 0.3 0.23 0.32 0.07 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635614 NA NA NA NA NA 0.181 NA 3.6869 1283 3 129695440 129695440 G T intronic TRH NA NA NA intronic ENSG00000170893 NA NA NA NA NA 3q22.1 NA NA NA NA rs13097335 0.24 0.24 0.241 0.248802 0.3131 0.247 0.1873 0.1415 0.3732 0.33 0.26 0.2 0.12 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188922 NA NA NA NA NA 0.254 NA 3.6869 1283 8 125933493 125933493 T A intergenic MTSS1,LOC157381 dist=192763;dist=20757 NA NA ncRNA_intronic ENSG00000249816,ENSG00000250428 NA NA NA NA NA 8q24.13 NA NA NA NA rs11778786 0.2 0.2 0.171 0.185703 0.3131 0.1151 0.1873 0.0628 0.2924 0.33 0.11 0.25 0.07 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40585 NA NA NA NA NA 0.13 NA 3.6869 1283 11 3943970 3943970 C T intronic STIM1 NA NA NA intronic ENSG00000167323 NA NA NA NA NA 11p15.4 NA NA NA NA rs7102215 0.23 0.23 0.195 0.254393 0.3131 0.3155 0.2723 0.0166 0.4397 0.32 0.29 0.24 0.02 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484603 NA NA NA NA NA 0.232 NA 3.6869 1283 11 118221474 118221474 G A intronic CD3G NA NA NA intronic ENSG00000160654 NA NA NA NA NA 11q23.3 NA NA NA NA rs1561966 0.38 0.38 0.353 0.404952 0.3131 0.5903 0.2248 0.3147 0.5583 0.32 0.6 0.29 0.27 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469861 NA NA NA NA NA 0.37 NA 3.6869 1283 19 20634105 20634105 A G intergenic ZNF826P,ZNF737 dist=26334;dist=86693 NA NA ncRNA_intronic ENSG00000269043 NA NA NA NA NA 19p12 NA NA NA NA rs12976072 0.16 0.16 0.135 0.120208 0.3131 0.001 0.1686 0.0129 0.1554 0.35 NA 0.18 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654643 NA NA NA NA NA 0.283 NA 3.6869 1283 21 44107960 44107960 T A intronic PDE9A NA NA NA intronic ENSG00000160191 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839573 0.35 0.35 0.335 0.372005 0.3131 0.5427 0.2464 0.2496 0.5112 0.31 0.54 0.27 0.25 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070895 NA NA NA NA NA 0.319 NA 3.6869 1283 15 79350840 79350840 A G intronic RASGRF1 NA NA NA intronic ENSG00000058335 NA NA NA NA NA 15q25.1 NA NA NA NA rs3816282 0.11 0.11 0.097 0.136781 0.0835 0.2321 0.0418 0.0628 0.2607 0.09 0.21 0.04 0.06 0.1236 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064369 NA NA 0.106336 0.056694 NA 0.08 NA 3.686564 1283 7 95024046 95024046 A G intronic PON3 NA NA NA exonic ENSG00000105852 NA nonsynonymous SNV ENSG00000105852:ENST00000418617:exon2:c.T77C:p.V26A,ENSG00000105852:ENST00000442770:exon2:c.T77C:p.V26A NA NA 7q21.3 NA NA NA NA rs11970910 0.6 0.6 0.588 0.620807 0.4901 0.7589 0.634 0.5756 0.6646 0.48 0.76 0.61 0.61 0.5439 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495151 NA NA 0.446395 0.514753 ID=COSN168149;OCCURENCE=1(large_intestine),2(endometrium) 0.565 NA 3.6862717 1283 4 17608620 17608620 A G intronic LAP3 NA NA NA ncRNA_intronic ENSG00000249502 NA NA NA NA NA 4p15.32 NA NA NA NA rs4698628 0.68 0.68 0.649 0.610224 0.6471 0.8552 0.6988 0.4039 0.5358 0.66 0.87 0.68 0.47 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515223 NA NA NA NA NA 0.688 NA 3.6862333 1283 11 33096982 33096982 C G upstream LINC00294 NA NA NA intronic ENSG00000176148 NA NA NA NA NA 11p13 NA NA NA NA rs11032143 0.17 0.17 0.159 0.196086 0.1471 0.3383 0.0908 0.1051 0.2975 0.16 0.3 0.1 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093694 NA NA NA NA NA 0.152 NA 3.6862333 1283 12 64749600 64749600 A G intronic C12orf56 NA NA NA ncRNA_exonic ENSG00000238440 NA NA NA NA NA 12q14.2 NA NA NA NA rs6581553 0.5 0.5 0.462 0.457867 0.6471 0.374 0.6542 0.233 0.5143 0.65 0.43 0.65 0.23 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803486 NA NA NA NA NA 0.558 NA 3.6862333 1283 3 62647942 62647942 T A intronic CADPS NA NA NA intronic ENSG00000163618 NA NA NA NA NA 3p14.2 NA NA NA NA rs13093807 0.07 0.07 0.082 0.0670927 0.1123 0.002 0.0504 0.0734 0.091 0.12 0.0035 0.06 0.08 0.092 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250655 NA NA 0.109535 0.078302 NA 0.029 NA 3.686165 1283 1 55197149 55197149 T C ncRNA_intronic HEATR8-TTC4 NA NA NA intronic ENSG00000243725,ENSG00000271723 NA NA NA NA NA 1p32.3 NA NA NA NA rs3815226 0.28 0.28 0.22 0.255192 0.2018 0.5347 0.3559 0.0333 0.2505 0.2 0.54 0.32 0.05 0.2449 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.710533 NA NA 0.200698 0.067635 NA 0.123 NA 3.6859353 1283 1 44594966 44594966 G A intronic KLF17 NA NA NA intronic ENSG00000171872 NA NA NA NA NA 1p34.1 NA NA NA NA rs2485653 0.15 0.15 0.135 0.121605 0.3141 0.0179 0.1931 0.0204 0.1166 0.31 0.02 0.22 0.02 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38933 NA NA NA NA NA 0.181 NA 3.6859 1283 1 47130873 47130873 A G intronic ATPAF1 NA NA NA intronic ENSG00000123472,ENSG00000159658 NA NA NA NA NA 1p33 NA NA NA NA rs594118 0.55 0.55 0.536 0.547125 0.3141 0.7659 0.428 0.7511 0.3701 0.3 0.75 0.45 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080499 NA NA NA NA NA 0.471 NA 3.6859 1283 6 31243615 31243615 G A intergenic HLA-C,HLA-B dist=3702;dist=78034 NA NA ncRNA_exonic ENSG00000214892 NA NA NA NA NA 6p21.33 NA NA NA NA rs13200569 0.33 0.33 0.331 0.326078 0.3141 0.3542 0.2666 0.3147 0.3671 0.33 0.35 0.23 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037803 NA NA NA NA NA 0.261 NA 3.6859 1283 6 107621477 107621477 C G intronic PDSS2 NA NA NA intronic ENSG00000164494 NA NA NA NA NA 6q21 NA NA NA NA rs2500595 0.19 0.19 0.174 0.148962 0.3141 0.0218 0.3026 0.0356 0.1544 0.31 0.03 0.35 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820011 NA NA NA NA NA 0.29 NA 3.6859 1283 10 81060829 81060829 G A intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1782648 0.36 0.36 0.348 0.360224 0.3141 0.4157 0.2925 0.3684 0.3875 0.31 0.48 0.29 0.34 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815474 NA NA NA NA NA 0.333 NA 3.6859 1283 11 5729580 5729580 T C intronic TRIM22 NA NA NA intronic ENSG00000132256,ENSG00000132274 NA NA NA NA NA 11p15.4 NA NA NA NA rs2291845 0.16 0.16 0.14 0.139776 0.3141 0.0655 0.147 0.0197 0.1943 0.32 0.06 0.16 0.03 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319852 NA NA NA NA NA 0.196 NA 3.6859 1283 11 27398845 27398845 G A intronic LGR4 NA NA NA intronic ENSG00000205213 NA NA NA NA NA 11p14.1 NA NA NA NA rs10835171 0.41 0.41 0.405 0.417732 0.3141 0.501 0.4885 0.3911 0.4243 0.32 0.53 0.48 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638099 NA NA NA NA NA 0.333 NA 3.6859 1283 16 84940062 84940062 A C intronic CRISPLD2 NA NA NA intronic ENSG00000103196 NA NA NA NA NA 16q24.1 NA NA NA NA rs1874621 0.29 0.29 0.276 0.272963 0.3141 0.1071 0.3602 0.3888 0.183 0.33 0.13 0.35 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002328 NA NA NA NA NA 0.203 NA 3.6859 1283 1 244747293 244747293 C T intronic C1orf101 NA NA NA intronic ENSG00000179397 NA NA NA NA NA 1q44 NA NA NA NA rs6429488 0.2 0.2 0.212 0.261781 0.0755 0.372 0.2378 0.3979 0.1728 0.06 0.31 0.19 0.31 0.1595 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281333 NA NA 0.079255 0.30746 NA NA NA 3.685745 1283 3 113679725 113679725 C T UTR3 ZDHHC23 NM_173570:c.*145C>T NA NA UTR3 ENSG00000184307 ENST00000330212:c.*145C>T,ENST00000498275:c.*145C>T NA NA NA NA 3q13.31 NA NA NA NA rs3732785 0.75 0.75 0.77 0.778155 0.6481 0.7569 0.7219 0.9266 0.773 0.66 0.74 0.72 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512852 NA NA NA NA NA 0.862 NA 3.6852334 1283 16 4796595 4796595 T C intronic C16orf71 NA NA NA ncRNA_intronic ENSG00000266994 NA NA NA NA NA 16p13.3 NA NA NA NA rs759988 0.63 0.63 0.618 0.573682 0.6481 0.6786 0.5735 0.497 0.4928 0.65 0.71 0.57 0.54 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921739 NA NA NA NA NA 0.594 NA 3.6852333 1284 1 15789446 15789446 C G intronic CELA2A NA NA NA intronic ENSG00000142615 NA NA NA NA NA 1p36.21 NA NA NA NA rs3815788 0.37 0.37 0.355 0.397364 0.3151 0.2321 0.3213 0.674 0.3323 0.3 0.23 0.35 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320345 NA NA NA NA NA 0.413 NA 3.6849 1284 1 15789450 15789450 T A intronic CELA2A NA NA NA intronic ENSG00000142615 NA NA NA NA NA 1p36.21 NA NA NA NA rs3815789 0.38 0.38 0.391 0.409744 0.3151 0.2321 0.3242 0.7194 0.3323 0.3 0.23 0.35 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143792 NA NA NA NA NA 0.435 NA 3.6849 1284 2 101675808 101675808 A G intronic TBC1D8 NA NA NA intronic ENSG00000204634 NA NA NA NA NA 2q11.2 NA NA NA NA rs7572457 0.27 0.27 0.254 0.271366 0.3151 0.1597 0.3256 0.239 0.3466 0.32 0.17 0.35 0.25 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493303 NA NA NA NA ID=COSN166226;OCCURENCE=1(NS) 0.261 NA 3.6849 1284 2 233281802 233281802 T C intergenic ALPPL2,ALPI dist=6378;dist=39031 NA NA ncRNA_intronic ENSG00000204121 NA NA NA NA NA 2q37.1 NA NA NA NA rs1878691 0.4 0.4 0.338 0.408946 0.3151 0.5903 0.4496 0.3056 0.4294 0.32 0.59 0.39 0.3 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313426 NA NA NA NA NA 0.304 NA 3.6849 1284 3 108129348 108129348 T C intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs1078455 0.19 0.19 0.186 0.18151 0.3151 0.0129 0.1974 0.1566 0.2403 0.33 NA 0.24 0.16 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468909 NA NA NA NA NA 0.188 NA 3.6849 1284 10 73103904 73103904 C G intronic SLC29A3 NA NA NA intronic ENSG00000198246 NA NA NA NA NA 10q22.1 NA NA NA NA rs41281300 0.2 0.2 0.173 0.1875 0.3151 0.0843 0.2161 0.1135 0.2423 0.3 0.08 0.27 0.15 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323898 NA NA NA NA NA 0.239 NA 3.6849 1284 10 135179363 135179363 G C intronic ECHS1 NA NA NA intronic ENSG00000127884 NA NA NA NA NA 10q26.3 NA NA NA NA rs56055735 0.32 0.32 0.302 0.316693 0.3151 0.3948 0.3718 0.2277 0.319 0.3 0.43 0.33 0.22 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734102 NA NA NA NA NA 0.254 NA 3.6849 1284 17 12898454 12898454 C A intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs73981604 0.19 0.19 0.175 0.192692 0.3151 0.0327 0.2392 0.1573 0.2464 0.33 0.02 0.23 0.15 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.100856 NA NA NA NA NA 0.145 NA 3.6849 1284 17 12908204 12908204 T C intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs4792309 0.2 0.2 0.204 0.206669 0.3151 0.0347 0.2421 0.205 0.2495 0.33 0.03 0.23 0.18 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32442 NA NA NA NA NA 0.196 NA 3.6849 1284 17 12914920 12914920 A G intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs41494747 0.21 0.21 0.199 0.214058 0.3151 0.0347 0.245 0.233 0.2474 0.33 0.03 0.23 0.21 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692835 NA NA NA NA NA 0.188 NA 3.6849 1284 19 49558509 49558509 G A intronic CGB7 NA NA NA intronic ENSG00000196337 NA NA NA NA NA 19q13.33 NA NA NA NA rs36059036 0.25 0.25 0.205 0.259984 0.3151 0.2292 0.1801 0.2118 0.3569 0.3 0.22 0.2 0.25 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751652 NA NA NA NA NA 0.13 NA 3.6849 1284 14 106135271 106135271 G A downstream ELK2AP NA NA NA ncRNA_exonic ENSG00000253755 NA NA NA NA NA 14q32.33 NA NA NA NA rs34678053 0.22 0.22 0.202 0.197484 0.4821 0.0129 0.2896 0.0174 0.273 0.46 0.01 0.29 0.02 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451215 NA NA NA NA NA 0.203 NA 3.6845666 1284 7 4213940 4213940 T C exonic SDK1 NA synonymous SNV SDK1:NM_001079653:exon7:c.T348C:p.T116T,SDK1:NM_152744:exon33:c.T4887C:p.T1629T exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon33:c.T4887C:p.T1629T,ENSG00000146555:ENST00000404826:exon33:c.T4887C:p.T1629T NA NA 7p22.2 NA NA NA NA rs671756 0.67 0.67 0.622 0.665735 0.6561 0.7659 0.6902 0.5764 0.6759 0.66 0.76 0.69 0.57 0.6817 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.989882 NA NA 0.644302 0.607808 NA 0.623 NA 3.6845646 1284 2 20130145 20130145 T G intronic WDR35 NA NA NA intronic ENSG00000118965 NA NA NA NA NA 2p24.1 NA NA NA NA rs28502265 0.13 0.13 0.117 0.142971 0.1123 0.1736 0.1239 0.093 0.2239 0.11 0.17 0.13 0.11 0.1148 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.540094 1.540094 NA 0.088372 0.104403 ID=COSN166030;OCCURENCE=1(breast) 0.109 NA 3.684528 1284 8 39777529 39777529 C T intronic IDO1 NA NA NA ncRNA_intronic ENSG00000253939,ENSG00000254287 NA NA NA NA NA 8p11.21 NA NA NA NA rs7820268 0.26 0.26 0.248 0.22484 0.3221 0.2202 0.2133 0.2027 0.1677 0.31 0.21 0.25 0.25 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333022 NA NA 0.326717 0.220376 ID=COSN168315;OCCURENCE=1(large_intestine) 0.254 NA 3.6845163 1284 4 17844029 17844029 G A intronic NCAPG NA NA NA intronic ENSG00000109805 NA NA NA NA NA 4p15.31 NA NA Name=2 NA rs17585261 0.62 0.62 0.609 0.6248 0.3996 0.7827 0.5418 0.7927 0.5256 0.41 0.79 0.53 0.82 0.4933 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365432 NA NA 0.422638 0.734453 NA 0.609 NA 3.684462 1284 2 98168055 98168055 T C intronic ANKRD36B NA NA NA ncRNA_intronic ENSG00000196912 NA NA NA NA NA 2q11.2 NA NA NA NA rs1972985 0.46 0.46 0.426 0.382788 0.6491 0.3036 0.438 0.3434 0.2045 0.63 0.34 0.48 0.34 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618098 NA NA NA NA NA 0.587 NA 3.6842333 1284 2 98171807 98171807 T C intronic ANKRD36B NA NA NA ncRNA_intronic ENSG00000196912 NA NA NA NA NA 2q11.2 NA NA NA NA rs12712057 0.48 0.48 0.432 0.38099 0.6491 0.2986 0.4366 0.3427 0.2025 0.64 0.35 0.48 0.35 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089958 NA NA NA NA NA 0.58 NA 3.6842333 1284 3 140122341 140122341 G A intronic CLSTN2 NA NA NA ncRNA_exonic ENSG00000263959 NA NA NA NA NA 3q23 NA NA NA NA rs4683494 0.57 0.57 0.571 0.602436 0.6491 0.3353 0.6801 0.6309 0.7362 0.64 0.32 0.69 0.67 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31642 NA NA NA NA NA 0.594 NA 3.6842333 1284 2 15614404 15614404 T C exonic NBAS NA synonymous SNV NBAS:NM_015909:exon15:c.A1386G:p.R462R exonic ENSG00000151779 NA synonymous SNV ENSG00000151779:ENST00000281513:exon15:c.A1386G:p.R462R,ENSG00000151779:ENST00000441750:exon15:c.A1386G:p.R462R NA NA 2p24.3 NA NA NA NA rs13014906 0.53 0.53 0.508 0.519369 0.6938 0.2232 0.6239 0.5492 0.5307 0.67 0.26 0.63 0.53 0.605 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310511 NA NA 0.683837 0.571039 NA 0.674 NA 3.6840296 1284 2 69300243 69300243 G A intronic ANTXR1 NA NA NA intronic ENSG00000169604 NA NA NA NA NA 2p13.3 NA NA NA NA rs10202939 0.13 0.13 0.139 0.153155 0.1034 0.2282 0.0821 0.1732 0.1503 0.1 0.17 0.08 0.16 0.1148 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.122117 NA NA 0.097791 0.154562 ID=COSM148874;OCCURENCE=1(stomach) 0.08 NA 3.684009 1284 2 135102742 135102742 A G intronic MGAT5 NA NA NA intronic ENSG00000152127 NA NA NA NA NA 2q21.3 NA NA NA NA rs2290048 0.28 0.28 0.306 0.292532 0.3161 0.3105 0.1801 0.2587 0.3753 0.3 0.31 0.21 0.27 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014561 NA NA NA NA NA 0.37 NA 3.6839 1284 3 46730749 46730749 A G intronic ALS2CL NA NA NA intronic ENSG00000178038 NA NA NA NA NA 3p21.31 NA NA NA NA rs4076927 0.42 0.42 0.413 0.458866 0.3161 0.3046 0.4006 0.7746 0.3793 0.31 0.28 0.41 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647616 NA NA NA NA NA 0.507 NA 3.6839 1284 7 55628707 55628707 C T intronic VOPP1 NA NA NA intronic ENSG00000154978 NA NA NA NA NA 7p11.2 NA NA NA NA rs7807352 0.34 0.34 0.305 0.339457 0.3161 0.5367 0.5418 0.0756 0.3732 0.34 0.52 0.47 0.06 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314713 NA NA NA NA NA 0.297 NA 3.6839 1284 7 126935809 126935809 C G intergenic GRM8,ZNF800 dist=43381;dist=74545 NA NA ncRNA_exonic ENSG00000236105 NA NA NA NA NA 7q31.33 NA NA NA NA rs885991 0.32 0.32 0.335 0.323682 0.3161 0.0893 0.2478 0.6051 0.2464 0.32 0.12 0.24 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826428 NA NA NA NA NA 0.297 NA 3.6839 1284 7 142836440 142836440 A G intronic PIP NA NA NA intronic ENSG00000159763 NA NA NA NA NA 7q34 NA NA NA NA rs6959713 0.32 0.32 0.334 0.346446 0.3161 0.0476 0.2637 0.6959 0.272 0.31 0.04 0.29 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871041 NA NA NA NA NA 0.312 NA 3.6839 1284 8 104709594 104709594 A G intronic RIMS2 NA NA NA intronic ENSG00000176406 NA NA NA NA NA 8q22.3 NA NA NA NA rs1176674 0.47 0.47 0.439 0.489018 0.3161 0.7589 0.5821 0.4433 0.3845 0.3 0.74 0.53 0.39 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248097 NA NA NA NA NA 0.5 NA 3.6839 1284 19 21143930 21143930 G A intergenic ZNF85,ZNF430 dist=10427;dist=59496 NA NA ncRNA_exonic ENSG00000269012 NA NA NA NA NA 19p12 NA NA NA NA rs12463337 0.28 0.28 0.236 0.234425 0.3161 0.4454 0.2205 0.0121 0.2434 0.33 0.45 0.25 0.02 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.17117 NA NA NA NA NA 0.188 NA 3.6839 1284 3 48463618 48463618 T A intronic PLXNB1 NA NA NA intronic ENSG00000164050 NA NA NA NA NA 3p21.31 NA NA Name=4 NA rs9883759 0.34 0.34 0.352 0.319688 0.4642 0.3135 0.2882 0.2398 0.3078 0.45 0.29 0.3 0.24 0.3825 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770076 NA NA 0.469419 0.279165 NA 0.435 NA 3.683881 1284 10 114171599 114171599 T C intronic ACSL5 NA NA NA intronic ENSG00000197142 NA NA NA NA NA 10q25.2 NA NA NA NA rs876873 0.12 0.12 0.122 0.140974 0.1481 0.0109 0.121 0.267 0.1115 0.13 0.01 0.12 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537393 NA NA 0.168133 0.234827 NA 0.101 NA 3.683767 1284 7 133868439 133868439 G A intronic LRGUK NA NA NA intronic ENSG00000155530 NA NA NA NA NA 7q33 NA NA NA NA rs55857809 0.17 0.17 0.139 0.16893 0.0736 0.3839 0.353 0.0068 0.1339 0.06 0.38 0.28 0.02 0.1455 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269739 NA NA 0.097209 0.026101 NA 0.094 NA 3.683691 1284 12 56495306 56495306 C T intronic ERBB3 NA NA NA intronic ENSG00000065361,ENSG00000257411 NA NA NA NA NA 12q13.2 NA NA NA NA rs812826 0.08 0.08 0.076 0.0888578 0.1123 0.002 0.0735 0.1596 0.0695 0.11 0.0017 0.08 0.14 0.0975 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00662 NA NA 0.106628 0.151611 NA 0.138 NA 3.683572 1284 6 24852751 24852751 C A intronic FAM65B NA NA NA intronic ENSG00000111913 NA NA NA NA NA 6p22.3 NA NA NA NA rs9467333 0.19 0.19 0.181 0.190495 0.1521 0.2331 0.1974 0.1551 0.229 0.16 0.25 0.17 0.17 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248111 NA NA 0.164362 0.151012 NA 0.123 NA 3.683538 1284 15 28478799 28478799 G A intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA NA NA NA rs72714147 0.16 0.16 0.143 0.159744 0.1083 0.2907 0.2334 0.0408 0.1861 0.1 0.31 0.23 0.03 0.1247 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.196153 NA NA 0.083721 0.058783 NA 0.116 NA 3.683279 1284 19 43422100 43422100 C G upstream PSG6 NA NA NA intronic ENSG00000170848 NA NA NA NA NA 19q13.31 NA NA NA NA rs58309502 0.12 0.12 0.08 0.110024 0.1501 0.003 0.2233 0.0893 0.1268 0.16 0.0017 0.22 0.12 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1727 NA NA NA NA NA 0.174 NA 3.6832333 1284 20 61441061 61441061 G A intronic OGFR NA NA NA intronic ENSG00000060491 NA NA NA NA NA 20q13.33 NA NA NA NA rs45585738 0.12 0.12 NA 0.125399 0.1799 0.005 0.098 0.1823 0.136 0.18 0.0017 0.1 0.17 0.137 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010386 NA NA NA NA NA 0.13 NA 3.6831 1284 1 79387242 79387242 C T intronic ELTD1 NA NA NA intronic ENSG00000162618 NA NA NA NA NA 1p31.1 NA NA NA NA rs3811440 0.22 0.22 0.245 0.194289 0.3171 0.2312 0.1945 0.0658 0.2035 0.32 0.21 0.22 0.07 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114978 NA NA NA NA NA 0.188 NA 3.6829 1284 2 233282847 233282847 C G intergenic ALPPL2,ALPI dist=7423;dist=37986 NA NA ncRNA_exonic ENSG00000204121 NA NA NA NA NA 2q37.1 NA NA NA NA rs13002718 0.43 0.43 0.393 0.452476 0.3171 0.5903 0.4582 0.4644 0.4294 0.32 0.59 0.41 0.43 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261214 NA NA NA NA NA 0.362 NA 3.6829 1284 7 103155944 103155944 C G intronic RELN NA NA NA intronic ENSG00000189056 NA NA NA NA NA 7q22.1 NA NA NA NA rs2528862 NA NA 0.53 0.582069 0.3171 0.5913 0.3602 0.8949 0.5798 NA NA NA NA NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041358 NA NA NA NA NA 0.543 NA 3.6829 1284 9 15055921 15055921 C G intergenic LOC389705,TTC39B dist=36199;dist=114921 NA NA ncRNA_exonic ENSG00000234297 NA NA NA NA NA 9p22.3 NA NA NA NA rs7022876 0.38 0.38 0.391 0.377596 0.3171 0.2173 0.3876 0.6286 0.2587 0.32 0.22 0.39 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752515 NA NA NA NA NA 0.464 NA 3.6829 1284 11 61548874 61548874 G A intronic MYRF NA NA NA intronic ENSG00000124920 NA NA NA NA NA 11q12.2 NA NA NA NA rs174532 0.14 0.14 0.128 0.10024 0.3171 0.001 0.1787 0.0166 0.0368 0.29 0.0017 0.19 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078266 NA NA NA NA NA 0.138 NA 3.6829 1284 12 14689449 14689449 T G intronic PLBD1 NA NA NA intronic ENSG00000121316 NA NA NA NA NA 12p13.1 NA NA NA NA rs35754761 0.24 0.24 0.24 0.189696 0.3171 0.2153 0.3429 0.0726 0.0818 0.31 0.24 0.32 0.08 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550317 NA NA NA NA NA 0.196 NA 3.6829 1284 12 51585601 51585601 C T intronic POU6F1 NA NA NA intronic ENSG00000184271 NA NA NA NA NA 12q13.13 NA NA NA NA rs10747606 0.35 0.35 0.329 0.347444 0.3171 0.2609 0.3559 0.4365 0.3415 0.32 0.28 0.39 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040548 NA NA NA NA NA NA NA 3.6829 1284 14 23312863 23312863 C G intronic MMP14 NA NA NA intronic ENSG00000157227 NA NA NA NA NA 14q11.2 NA NA NA NA rs2236304 0.32 0.32 0.282 0.288938 0.3171 0.4881 0.3977 0.0855 0.2526 0.32 0.48 0.37 0.1 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.56107 1.56107 NA NA NA NA 0.275 NA 3.6829 1284 19 45856144 45856144 G A intronic ERCC2 NA NA NA intronic ENSG00000104884 NA NA NA NA NA 19q13.32 NA NA NA NA rs1799787 0.18 0.18 0.186 0.18151 0.3171 0.0774 0.1729 0.0719 0.3037 0.33 0.09 0.17 0.08 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368674 NA NA NA NA NA 0.181 NA 3.6829 1284 10 12148259 12148259 A C exonic DHTKD1 NA synonymous SNV DHTKD1:NM_018706:exon11:c.A1911C:p.P637P exonic ENSG00000181192 NA synonymous SNV ENSG00000181192:ENST00000263035:exon11:c.A1911C:p.P637P NA NA 10p14 Score=915;Name=V$MEIS1_01 NA NA NA rs1701472 0.95 0.95 0.941 0.954073 0.999 1 0.9899 0.8321 1 1 1 0.99 0.8 0.9858 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026137 NA NA 0.99907 0.852701 NA 0.906 NA 3.6827966 1284 10 96826922 96826922 C G intronic CYP2C8 NA NA NA intronic ENSG00000138115 NA NA NA NA NA 10q23.33 NA NA NA NA rs11572082 0.06 0.06 0.048 0.0457268 0.1183 0.001 0.0994 0.0083 0.0297 0.11 0.0035 0.13 0.01 0.0826 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.000637 NA NA 0.116512 0.024512 NA 0.094 NA 3.682588 1284 6 90371202 90371202 G A exonic MDN1 NA synonymous SNV MDN1:NM_014611:exon88:c.C14661T:p.L4887L exonic ENSG00000112159 NA synonymous SNV ENSG00000112159:ENST00000369393:exon88:c.C14661T:p.L4887L,ENSG00000112159:ENST00000428876:exon88:c.C14661T:p.L4887L NA NA 6q15 NA NA NA NA rs9444701 0.76 0.76 0.743 0.725439 0.6501 0.9167 0.7824 0.7163 0.5777 0.66 0.93 0.77 0.71 0.6829 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684 NA NA 0.651279 0.712438 NA 0.681 NA 3.6823876 1284 2 68352515 68352515 A C intergenic C1D,WDR92 dist=62356;dist=4766 NA NA ncRNA_exonic ENSG00000236259 NA NA NA Score=621;Name=lod=444 NA 2p14 NA NA NA NA rs6742154 0.42 0.42 0.396 0.439696 0.4344 0.498 0.4352 0.2368 0.6626 0.45 0.49 0.48 0.26 0.4693 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841815 NA 0.02 0.414114 0.304795 NA 0.246 NA 3.682186 1284 3 113858350 113858350 C T exonic DRD3 NA synonymous SNV DRD3:NM_000796:exon5:c.G720A:p.Q240Q,DRD3:NM_033663:exon5:c.G720A:p.Q240Q exonic ENSG00000151577 NA synonymous SNV ENSG00000151577:ENST00000295881:exon5:c.G720A:p.Q240Q,ENSG00000151577:ENST00000383673:exon5:c.G720A:p.Q240Q,ENSG00000151577:ENST00000460779:exon6:c.G720A:p.Q240Q,ENSG00000151577:ENST00000467632:exon6:c.G720A:p.Q240Q Score=333;Name=lod=30 NA 3q13.31 NA NA NA NA rs2251177 0.96 0.96 0.959 0.957867 1 1 0.987 0.8707 0.9683 1 1 0.99 0.85 0.9848 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514585 NA NA 0.999767 0.874489 NA 0.935 NA 3.6820996 1284 19 32035891 32035891 C T intergenic TSHZ3,THEG5 dist=195701;dist=47296 NA NA ncRNA_intronic ENSG00000267407 NA NA NA NA NA 19q12 NA NA NA NA rs10164395 0.19 0.19 0.177 0.195487 0.3181 0.0982 0.2118 0.1248 0.2536 0.3 0.04 0.24 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880839 NA NA NA NA NA 0.283 NA 3.6819 1284 1 22303702 22303702 C A intronic CELA3B NA NA NA intronic ENSG00000219073 NA NA NA NA NA 1p36.12 NA NA NA NA rs4415533 0.43 0.43 0.377 0.438698 0.3181 0.6101 0.5288 0.4115 0.3589 0.34 0.56 0.5 0.39 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0729 NA NA NA NA NA 0.362 NA 3.6819 1284 1 22846452 22846452 C G intronic ZBTB40 NA NA NA intronic ENSG00000184677 NA NA NA NA NA 1p36.12 NA NA NA NA rs7551801 0.4 0.4 0.381 0.359225 0.3181 0.3562 0.5043 0.4039 0.2413 0.32 0.42 0.5 0.42 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11697 NA NA NA NA NA 0.333 NA 3.6819 1284 4 173269915 173269915 C T intronic GALNTL6 NA NA NA intronic ENSG00000174473 NA NA NA NA NA 4q34.1 NA NA NA NA rs333398 0.41 0.41 0.421 0.411741 0.3181 0.5387 0.3112 0.5439 0.2699 0.32 0.53 0.29 0.52 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142057 NA NA NA NA NA 0.304 NA 3.6819 1284 6 31107317 31107317 C T intronic PSORS1C1 NA NA NA intronic ENSG00000204540 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265092 0.26 0.26 0.24 0.249401 0.3181 0.1052 0.2867 0.2322 0.3241 0.33 0.13 0.3 0.25 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.479569 1.479569 NA NA NA NA 0.275 NA 3.6819 1284 12 6965740 6965740 C A intronic USP5 NA NA NA intronic ENSG00000111667 NA NA NA NA NA 12p13.31 NA NA NA NA rs2238114 0.5 0.5 0.502 0.502396 0.3181 0.505 0.3847 0.848 0.3057 0.32 0.47 0.43 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.517253 NA NA NA NA NA 0.471 NA 3.6819 1284 12 51585304 51585304 T C intronic POU6F1 NA NA NA intronic ENSG00000184271 NA NA NA NA NA 12q13.13 NA NA NA NA rs7487157 0.39 0.39 0.389 0.403754 0.3181 0.2569 0.3746 0.6407 0.3436 0.31 0.27 0.41 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633429 NA NA NA NA NA 0.37 NA 3.6819 1284 17 7701204 7701204 A G intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs8072174 0.2 0.2 0.179 0.163538 0.3181 0.001 0.2133 0.18 0.1145 0.32 0.0017 0.27 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132301 NA NA NA NA NA 0.203 NA 3.6819 1284 17 7701806 7701806 C T intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs2131810 0.19 0.19 0.172 0.161142 0.3181 0.001 0.2118 0.1717 0.1145 0.32 0.0017 0.26 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022251 NA NA NA NA NA 0.203 NA 3.6819 1284 17 12899726 12899726 A G intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs4792308 0.2 0.2 0.194 0.208866 0.3181 0.0357 0.2478 0.2042 0.2536 0.33 0.03 0.25 0.18 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337596 NA NA NA NA NA 0.188 NA 3.6819 1284 14 74991855 74991855 A G exonic LTBP2 NA synonymous SNV LTBP2:NM_000428:exon15:c.T2502C:p.T834T exonic ENSG00000119681 NA synonymous SNV ENSG00000119681:ENST00000261978:exon15:c.T2502C:p.T834T,ENSG00000119681:ENST00000553939:exon15:c.T2502C:p.T834T,ENSG00000119681:ENST00000556690:exon15:c.T2502C:p.T834T NA NA 14q24.3 NA NA NA NA rs862031 0.71 0.71 0.713 0.728235 0.6471 0.7361 0.6744 0.8298 0.7045 0.64 0.77 0.66 0.79 0.6737 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150434 NA NA 0.664186 0.810713 NA 0.732 NA 3.6816806 1284 6 32151222 32151222 G A intronic AGER NA NA NA UTR3 ENSG00000204308 ENST00000427134:c.*53G>A NA NA NA NA 6p21.32 NA NA NA NA rs1035798 0.18 0.18 0.152 0.14996 0.2485 0.1389 0.2839 0.0129 0.1503 0.23 0.17 0.29 0.02 0.237 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.754197 NA NA NA NA NA 0.239 NA 3.6811667 1284 4 70223738 70223738 A G intergenic UGT2B28,UGT2B4 dist=62970;dist=122145 NA NA ncRNA_exonic ENSG00000250612 NA NA NA NA NA 4q13.2 NA NA NA NA rs10018610 0.34 0.34 0.358 0.330471 0.3191 0.4494 0.3156 0.2927 0.2812 0.31 0.46 0.31 0.27 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.250604 NA NA NA NA NA 0.348 NA 3.6809 1284 6 152542234 152542234 G T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9397492 0.38 0.38 0.359 0.389377 0.3191 0.5486 0.4135 0.2231 0.5051 0.33 0.57 0.41 0.23 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049726 NA NA NA NA NA 0.326 NA 3.6809 1284 8 113267709 113267709 A G intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs7006723 0.41 0.41 0.444 0.423922 0.3191 0.4157 0.245 0.7216 0.2648 0.3 0.35 0.28 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443357 1.443357 NA NA NA NA 0.514 NA 3.6809 1284 10 21076307 21076307 C T intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 NA NA NA NA rs2296607 0.28 0.28 0.261 0.299521 0.3191 0.4544 0.2147 0.0862 0.4683 0.31 0.41 0.26 0.09 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638085 NA NA NA NA NA 0.268 NA 3.6809 1284 12 9229629 9229629 C T intronic A2M NA NA NA intronic ENSG00000175899 NA NA NA NA NA 12p13.31 NA NA NA NA rs1805654 0.31 0.31 0.307 0.305911 0.3191 0.0823 0.3991 0.5204 0.1667 0.33 0.07 0.4 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041664 NA NA NA NA NA 0.42 NA 3.6809 1284 12 114384952 114384952 C T intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs3782460 0.23 0.23 0.234 0.236422 0.3191 0.1657 0.2594 0.1392 0.3395 0.31 0.14 0.3 0.17 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210509 NA NA NA NA NA 0.188 NA 3.6809 1284 13 113783990 113783990 C T intronic F10 NA NA NA intronic ENSG00000126218 NA NA NA NA NA 13q34 NA NA NA NA rs3211736 0.27 0.27 0.246 0.273762 0.3191 0.3502 0.2262 0.1505 0.3487 0.31 0.33 0.26 0.13 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657362 NA NA NA NA NA 0.21 NA 3.6809 1284 1 179316687 179316687 A G intronic SOAT1 NA NA NA intronic ENSG00000057252 NA NA NA NA NA 1q25.2 NA NA NA NA rs13306729 0.11 0.11 0.113 0.096845 0.1103 0.1042 0.0634 0.152 0.0245 0.11 0.08 0.07 0.16 0.0948 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.234031 1.234031 NA 0.114096 0.145322 NA 0.152 NA 3.680804 1284 4 3184229 3184229 A G intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs363094 0.14 0.14 0.152 0.154752 0.1004 0.0089 0.1009 0.3737 0.1033 0.1 0.0017 0.1 0.37 0.1117 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283026 NA NA 0.107117 0.296668 NA 0.152 NA 3.680783 1284 1 111857120 111857120 C A intronic CHIA NA NA NA intronic ENSG00000134216 NA NA NA NA NA 1p13.2 NA NA NA NA rs3818820 0.11 0.11 0.105 0.129593 0.0984 0.0933 0.0807 0.1936 0.1472 0.08 0.09 0.09 0.17 0.1132 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.085931 NA NA 0.107738 0.162575 NA 0.167 NA 3.680662 1284 3 113955265 113955265 G A exonic ZNF80 NA synonymous SNV ZNF80:NM_007136:exon1:c.C657T:p.C219C exonic ENSG00000174255 NA synonymous SNV ENSG00000174255:ENST00000308095:exon1:c.C657T:p.C219C,ENSG00000174255:ENST00000482457:exon1:c.C657T:p.C219C NA NA 3q13.31 NA NA NA NA rs6438190 0.68 0.68 0.689 0.693091 0.6849 0.5427 0.6009 0.8502 0.7096 0.68 0.57 0.59 0.86 0.6566 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078346 NA NA 0.644535 0.798684 NA 0.768 NA 3.6806316 1284 14 24647902 24647902 C T intronic REC8 NA NA NA intronic ENSG00000100918 NA NA NA NA NA 14q12 NA NA NA NA rs34136797 0.15 0.15 0.117 0.163738 0.0895 0.1091 0.3112 0.2133 0.1247 0.09 0.14 0.25 0.18 0.1348 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439431 NA NA 0.095576 0.17823 ID=COSN164645;OCCURENCE=1(breast) 0.138 NA 3.680124 1284 5 128301824 128301824 T A UTR5 SLC27A6 NM_014031:c.-7T>A,NM_001017372:c.-7T>A NA NA UTR5 ENSG00000113396 ENST00000262462:c.-7T>A,ENST00000395266:c.-7T>A,ENST00000506176:c.-7T>A NA NA NA NA 5q23.3 NA NA NA NA rs2526246 0.23 0.23 NA 0.194888 0.3608 0.0565 0.2464 0.146 0.1963 0.36 0.06 0.31 0.17 0.2925 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653278 NA NA NA NA NA 0.138 NA 3.6800334 1284 17 43517054 43517054 G A intronic PLEKHM1 NA NA NA intronic ENSG00000225190 NA NA NA NA NA 17q21.31 NA NA NA NA rs62064657 0.1 0.1 0.085 0.072484 0.1938 0.001 0.1527 0.0098 0.0491 0.18 0.0017 0.19 0.01 0.1262 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831509 NA NA NA NA NA 0.094 NA 3.68 1284 9 139819984 139819984 C T intronic TRAF2 NA NA NA intronic ENSG00000127191 NA NA NA NA NA 9q34.3 NA NA NA NA rs12554888 0.32 0.32 0.317 0.292133 0.3201 0.4643 0.2622 0.208 0.2209 0.31 0.5 0.26 0.18 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27883 NA NA NA NA NA 0.246 NA 3.6799 1284 15 100871329 100871329 G A intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs11639041 0.19 0.19 0.166 0.230032 0.3201 0.121 0.2032 0.084 0.4663 0.3 0.11 0.22 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25571 NA NA NA NA NA 0.239 NA 3.6799 1284 18 34298732 34298732 G C intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs7240383 0.35 0.35 0.348 0.395367 0.3201 0.3254 0.4697 0.4115 0.4703 0.31 0.33 0.43 0.38 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432963 NA NA NA NA NA 0.399 NA 3.6799 1284 19 49558498 49558498 T C intronic CGB7 NA NA NA intronic ENSG00000196337 NA NA NA NA NA 19q13.33 NA NA NA NA rs34140832 0.24 0.24 0.195 0.266174 0.3201 0.2331 0.183 0.2163 0.3712 0.29 0.21 0.21 0.22 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358512 NA NA NA NA NA 0.138 NA 3.6799 1284 5 10282396 10282396 A G exonic CMBL NA synonymous SNV CMBL:NM_138809:exon5:c.T471C:p.I157I exonic ENSG00000164237 NA synonymous SNV ENSG00000164237:ENST00000296658:exon5:c.T471C:p.I157I NA NA 5p15.2 NA NA NA NA rs10067744 0.45 0.45 0.443 0.429912 0.7197 0.0754 0.4366 0.4811 0.4233 0.73 0.06 0.51 0.43 0.5655 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556746 NA NA 0.702209 0.497049 ID=COSM149793;OCCURENCE=1(stomach) 0.587 NA 3.6792576 1284 2 33525407 33525407 A G intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs2123769 0.21 0.21 0.2 0.176717 0.3211 0.2381 0.1945 0.0166 0.1687 0.33 0.21 0.19 0.03 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044052 NA NA NA NA NA 0.188 NA 3.6789 1284 3 38812650 38812650 G A intronic SCN10A NA NA NA intronic ENSG00000185313 NA NA NA NA NA 3p22.2 NA NA NA NA rs10212338 0.24 0.24 0.217 0.22484 0.3211 0.1607 0.3343 0.1165 0.2607 0.33 0.15 0.35 0.11 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446692 NA NA NA NA NA 0.239 NA 3.6789 1284 9 27610743 27610743 C T intergenic C9orf72,LINGO2 dist=36879;dist=337341 NA NA ncRNA_exonic ENSG00000215441 NA NA NA NA NA 9p21.2 NA NA NA NA rs1832055 0.25 0.25 0.232 0.249002 0.3211 0.1558 0.3718 0.1339 0.3395 0.33 0.15 0.35 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195021 NA NA NA NA NA 0.283 NA 3.6789 1284 19 7507038 7507038 T C intronic ARHGEF18 NA NA NA intronic ENSG00000104880,ENSG00000268861 NA NA NA NA NA 19p13.2 NA NA NA NA rs146992149 0.22 0.22 0.161 0.342252 0.3211 0.4097 0.4035 0.2118 0.4274 0.19 0.27 0.24 0.19 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172001 NA NA NA NA NA NA NA 3.6789 1284 2 17902381 17902381 C G intronic SMC6 NA NA NA intronic ENSG00000163029 NA NA NA NA NA 2p24.2 NA NA NA NA rs11897477 0.13 0.13 0.133 0.130192 0.1083 0.0337 0.1153 0.2496 0.1012 0.12 0.03 0.12 0.27 0.1081 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.614774 NA NA 0.104767 0.237965 NA 0.101 NA 3.678833 1284 1 167815514 167815514 G A intronic ADCY10 NA NA NA intronic ENSG00000143199 NA NA NA NA NA 1q24.2 NA NA NA NA rs35398078 0.06 0.06 0.055 0.0509185 0.1133 0.001 0.0937 0.0219 0.047 0.11 NA 0.1 0.04 0.0878 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.66466 1.66466 NA 0.120349 0.043577 NA 0.036 NA 3.678551 1284 2 202154397 202154397 C G intronic ALS2CR12 NA NA NA intronic ENSG00000155749 NA NA NA NA NA 2q33.1 NA NA NA NA rs6715284 0.13 0.13 0.133 0.193291 0.1024 0.0129 0.098 0.4304 0.2198 0.11 0.0035 0.09 0.34 0.1263 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20803 NA NA 0.092791 0.387653 NA 0.196 NA 3.678509 1284 11 67564197 67564197 T C ncRNA_exonic FAM86C2P NA NA NA ncRNA_exonic ENSG00000160172 NA NA NA NA NA 11q13.2 NA Name=ERalpha_a NA NA rs7129832 0.99 0.99 0.995 0.990615 0.997 1 0.9942 0.9841 0.9806 1 1 0.99 0.98 0.9913 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.510061 NA NA NA NA NA 0.21 NA 3.6783666 1284 5 180686958 180686958 C T intronic TRIM52 NA NA NA ncRNA_intronic ENSG00000233937 NA NA NA NA NA 5q35.3 NA NA NA NA rs943957 0.17 0.17 0.175 0.192292 0.2256 0.0665 0.1859 0.2814 0.1718 0.21 0.03 0.18 0.27 0.204 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425702 NA NA 0.225581 0.264185 NA 0.174 NA 3.6781523 1284 5 98115828 98115828 A G intronic RGMB NA NA NA intronic ENSG00000174136 NA NA NA NA NA 5q15 NA NA NA NA rs2302983 0.11 0.11 0.103 0.126198 0.0895 0.1647 0.1066 0.0613 0.226 0.08 0.18 0.14 0.05 0.1286 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754374 NA NA 0.103907 0.059354 NA 0.072 NA 3.677993 1284 2 97026576 97026576 C T intronic NCAPH NA NA NA intronic ENSG00000121152 NA NA NA NA NA 2q11.2 NA NA NA NA rs62153915 0.28 0.28 0.29 0.370807 0.3221 0.2331 0.317 0.2784 0.726 0.32 0.22 0.31 0.26 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888933 NA NA NA NA NA 0.232 NA 3.6779 1284 4 167020324 167020324 C T intronic TLL1 NA NA NA intronic ENSG00000038295 NA NA NA NA NA 4q32.3 NA NA NA NA rs10018177 0.25 0.25 0.254 0.271565 0.3221 0.0694 0.3876 0.2519 0.3722 0.32 0.07 0.4 0.24 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718124 NA NA NA NA NA 0.203 NA 3.6779 1284 19 20988637 20988637 G A intergenic ZNF626,ZNF85 dist=144235;dist=117422 NA NA exonic ENSG00000160229 NA synonymous SNV ENSG00000160229:ENST00000344519:exon4:c.G231A:p.L77L,ENSG00000160229:ENST00000425625:exon4:c.G369A:p.L123L NA NA 19p12 NA NA NA NA rs6511163 0.38 0.38 0.335 0.352835 0.4085 0.4345 0.3761 0.2126 0.3845 0.43 0.44 0.4 0.22 0.4136 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818166 NA NA NA NA NA 0.246 NA 3.6779 1284 20 30382108 30382108 T G intronic TPX2 NA NA NA intronic ENSG00000088325 NA NA NA NA NA 20q11.21 NA NA NA NA rs6060952 0.36 0.36 0.397 0.346645 0.3221 0.0139 0.2608 0.8548 0.089 0.33 0.01 0.3 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.978147 NA NA NA NA NA 0.399 NA 3.6779 1284 10 5139815 5139815 C A UTR3 AKR1C3 NM_001253909:c.*25C>A NA NA intronic ENSG00000196139 NA NA NA NA NA 10p15.1 NA NA NA NA rs2245191 0.25 0.25 0.223 0.232827 0.2594 0.1944 0.1873 0.289 0.2014 0.26 0.19 0.22 0.32 0.2294 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502849 NA NA NA NA NA 0.246 NA 3.6778667 1284 6 32548646 32548646 G T intronic HLA-DRB1 NA NA NA intronic ENSG00000196126 NA NA NA NA NA 6p21.32 NA NA NA NA rs3830123 0.08 0.08 0.052 0.0646965 0.1282 0.0208 0.1052 0.0575 0.0256 0.12 0.03 0.12 0.06 0.0862 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.858455 NA NA 0.107973 0.070814 NA 0.094 NA 3.677627 1284 1 55518316 55518316 C T intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs2483205 0.38 0.38 0.392 0.394169 0.4503 0.1964 0.3242 0.5053 0.4397 0.47 0.21 0.35 0.45 0.4276 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835086 NA NA 0.444651 0.484567 NA 0.536 CLINSIG=non-pathogenic;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=single;CLNACC=RCV000030351.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:398036000 3.677449 1284 13 39420663 39420663 T C intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs9548502 0.09 0.09 0.076 0.109625 0.0895 0.001 0.2522 0.1445 0.0941 0.07 0.0017 0.2 0.12 0.1245 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.128108 NA NA 0.108953 0.141625 NA 0.087 NA 3.677047 1284 16 56864618 56864618 C T intronic NUP93 NA NA NA intronic ENSG00000102900 NA NA NA NA NA 16q13 NA NA Name=31 NA rs4461062 0.52 0.52 0.53 0.547524 0.4046 0.6736 0.4942 0.5598 0.5859 0.39 0.7 0.5 0.56 0.4807 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36181 NA NA 0.437791 0.550273 NA 0.486 NA 3.676909 1284 1 228444297 228444297 T G intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs7532141 0.19 0.19 0.141 0.159744 0.3231 0.0575 0.2651 0.062 0.1544 0.33 0.06 0.29 0.05 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474885 NA NA NA NA NA 0.225 NA 3.6769 1284 2 101652732 101652732 C T intronic TBC1D8 NA NA NA intronic ENSG00000204634 NA NA NA NA NA 2q11.2 NA NA NA NA rs4850957 0.22 0.22 0.201 0.223243 0.3231 0.1488 0.3084 0.0522 0.3681 0.32 0.16 0.35 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795565 NA NA NA NA NA 0.174 NA 3.6769 1284 11 49860463 49860463 C T intergenic LOC440040,OR4C13 dist=28494;dist=113480 NA NA ncRNA_exonic ENSG00000219061 NA NA NA NA NA 11p11.12 NA NA NA NA rs10769621 0.33 0.33 0.355 0.314297 0.3231 0.2808 0.2176 0.4493 0.226 0.33 0.28 0.23 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881649 NA 0.03 NA NA NA 0.399 NA 3.6769 1284 12 15704425 15704425 G T intronic PTPRO NA NA NA intronic ENSG00000151490 NA NA NA NA NA 12p12.3 NA NA NA NA rs1012674 0.26 0.26 0.247 0.284744 0.3231 0.2272 0.2565 0.2708 0.3436 0.31 0.19 0.28 0.25 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637086 NA NA NA NA NA 0.261 NA 3.6769 1284 16 56771791 56771791 T C intronic NUP93 NA NA NA intronic ENSG00000102900 NA NA NA NA NA 16q13 NA NA NA NA rs62036970 0.23 0.23 0.225 0.221246 0.3231 0.1022 0.232 0.2322 0.2168 0.32 0.1 0.25 0.22 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516228 NA NA NA NA NA 0.275 NA 3.6769 1284 19 19616026 19616026 T C intronic GATAD2A NA NA NA intronic ENSG00000167491 NA NA NA NA NA 19p13.11 NA NA NA NA rs3752151 0.41 0.41 0.394 0.458067 0.3231 0.3006 0.4769 0.6437 0.4949 0.32 0.29 0.46 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856761 NA NA NA NA NA 0.478 NA 3.6769 1284 4 56830605 56830605 A G intronic CEP135 NA NA NA intronic ENSG00000174799 NA NA NA NA NA 4q12 NA NA NA NA rs62308567 0.06 0.06 0.054 0.0407348 0.1223 NA 0.0648 0.0076 0.0266 0.13 NA 0.06 0.01 0.0883 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470806 NA NA 0.113488 0.020436 NA 0.036 NA 3.675912 1284 4 20541008 20541008 C A intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA NA NA rs3842004 NA NA NA 0.249401 0.3241 0.2113 0.2161 0.236 0.2536 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.616036 3.616036 NA NA NA NA NA NA 3.6759 1284 7 111400501 111400501 T A intronic DOCK4 NA NA NA intronic ENSG00000128512 NA NA NA NA NA 7q31.1 NA NA NA NA rs17158794 0.28 0.28 0.277 0.281949 0.3241 0.0347 0.2478 0.4902 0.2362 0.33 0.04 0.3 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372499 NA NA NA NA NA 0.384 NA 3.6759 1284 19 55119365 55119365 A G intergenic LILRA1,LILRB1 dist=5678;dist=9264 NA NA ncRNA_exonic ENSG00000238094 NA NA NA NA NA 19q13.42 NA NA NA NA rs12979839 0.45 0.45 0.42 0.430711 0.3241 0.5952 0.5014 0.4531 0.2904 0.32 0.59 0.48 0.46 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094006 NA NA NA NA NA 0.529 NA 3.6759 1284 9 139312972 139312972 G T intronic PMPCA NA NA NA intronic ENSG00000165688 NA NA NA NA NA 9q34.3 NA NA NA NA rs11145967 0.07 0.07 0.059 0.0702875 0.1024 0.0179 0.183 0.0174 0.0828 0.1 0.02 0.14 0.02 0.1043 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666616 NA NA 0.117442 0.031548 NA 0.065 NA 3.675858 1284 2 211341156 211341156 C G intronic LANCL1 NA NA NA UTR5 ENSG00000115365 ENST00000443314:c.-36G>C NA NA NA NA 2q34 NA Name=Ini1,TCF4 NA NA rs2287418 0.46 0.46 0.426 0.48103 0.4871 0.629 0.5519 0.2103 0.638 0.48 0.6 0.55 0.2 0.5065 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.19611 3.19611 NA 0.497442 0.267363 NA 0.355 NA 3.6756247 1284 13 31036681 31036681 A G exonic HMGB1 NA synonymous SNV HMGB1:NM_002128:exon4:c.T465C:p.Y155Y exonic ENSG00000189403 NA synonymous SNV ENSG00000189403:ENST00000399489:exon3:c.T465C:p.Y155Y,ENSG00000189403:ENST00000326004:exon4:c.T465C:p.Y155Y,ENSG00000189403:ENST00000339872:exon4:c.T465C:p.Y155Y,ENSG00000189403:ENST00000341423:exon4:c.T465C:p.Y155Y,ENSG00000189403:ENST00000399494:exon4:c.T465C:p.Y155Y,ENSG00000189403:ENST00000405805:exon4:c.T465C:p.Y155Y Score=650;Name=lod=582 NA 13q12.3 NA NA NA NA rs1929606 0.97 0.97 0.968 0.972045 1 1 0.9942 0.8971 1 1 1 1 0.89 0.9913 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012884 NA NA 0.999767 0.911257 NA 0.971 NA 3.6755996 1284 1 244747150 244747150 G A intronic C1orf101 NA NA NA intronic ENSG00000179397 NA NA NA NA NA 1q44 NA NA NA NA rs6429487 0.24 0.24 0.213 0.25639 0.0755 0.372 0.2378 0.3797 0.1697 0.07 0.36 0.23 0.36 0.1608 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387323 NA NA 0.088256 0.327281 NA 0.232 NA 3.675444 1284 14 21837879 21837879 C G intronic SUPT16H NA NA NA intronic ENSG00000092201 NA NA NA NA NA 14q11.2 NA NA NA NA rs17197100 0.05 0.05 0.055 0.0463259 0.1203 NA 0.0389 0.0106 0.0716 0.12 NA 0.04 0.01 0.085 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019287 NA NA 0.119419 0.030186 NA 0.094 NA 3.675281 1284 11 7794650 7794650 G C intergenic OVCH2,OR5P2 dist=66709;dist=22871 NA NA ncRNA_exonic ENSG00000166408 NA NA NA Score=399;Name=lod=56 NA 11p15.4 NA NA NA NA rs371799 0.51 0.51 0.457 0.470447 0.6998 0.4821 0.6671 0.0635 0.6329 0.71 0.49 0.66 0.08 0.6251 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.341225 2.341225 NA NA NA NA 0.486 NA 3.6751 1285 1 36926445 36926445 C T intronic MRPS15 NA NA NA intronic ENSG00000116898 NA NA NA NA NA 1p34.3 NA NA NA NA rs3738839 0.31 0.31 0.302 0.278554 0.325 0.3155 0.4568 0.1619 0.2239 0.33 0.37 0.4 0.16 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555304 NA NA NA NA NA 0.21 NA 3.675 1285 1 97189288 97189288 T A intronic PTBP2 NA NA NA intronic ENSG00000117569 NA NA NA NA NA 1p21.3 NA NA NA NA rs3762410 0.32 0.32 0.276 0.334065 0.325 0.4266 0.3991 0.118 0.4939 0.31 0.44 0.41 0.12 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318368 1.318368 NA NA NA NA 0.188 NA 3.675 1285 1 160151421 160151421 G C intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs11265350 0.35 0.35 0.329 0.310304 0.325 0.6409 0.2723 0.0983 0.2679 0.33 0.62 0.3 0.1 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254257 NA NA NA NA NA 0.37 NA 3.675 1285 2 148674797 148674797 G C intronic ACVR2A NA NA NA intronic ENSG00000121989 NA NA NA NA NA 2q22.3 NA NA NA NA rs3764955 0.32 0.32 0.28 0.273762 0.325 0.4246 0.3674 0.0809 0.2597 0.34 0.43 0.38 0.1 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220824 NA NA NA NA NA 0.391 NA 3.675 1285 16 90094214 90094214 C T intronic GAS8 NA NA NA intronic ENSG00000141013 NA NA NA NA NA 16q24.3 NA NA NA NA rs3743826 0.23 0.23 0.194 0.243011 0.325 0.1677 0.2723 0.0651 0.456 0.32 0.18 0.28 0.09 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293116 NA NA NA NA NA 0.196 NA 3.675 1285 13 50495555 50495555 T C intronic SPRYD7 NA NA NA intronic ENSG00000123178 NA NA NA NA NA 13q14.2 NA NA NA NA rs9568357 0.27 0.27 0.232 0.327077 0.1074 0.6766 0.2435 0.2209 0.3957 0.11 0.6 0.2 0.2 0.2179 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023232 NA NA NA NA NA 0.203 NA 3.6747 1285 22 45927220 45927220 C G intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs6006768 0.16 0.16 0.145 0.178714 0.0984 0.0972 0.1787 0.3018 0.1789 0.11 0.1 0.16 0.3 0.1261 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79575 NA NA 0.10093 0.268498 ID=COSN166784;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.275 NA 3.67457 1285 19 3198755 3198755 C T intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs2304247 0.14 0.14 0.129 0.125399 0.163 0.1736 0.121 0.0227 0.1789 0.16 0.2 0.14 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305565 NA NA 0.162476 0.038295 NA 0.072 NA 3.674524 1285 20 20243558 20243558 A G intronic C20orf26 NA NA NA ncRNA_intronic ENSG00000243810 NA NA NA NA NA 20p11.23 NA NA NA NA rs34200155 0.17 0.17 0.165 0.189896 0.2087 0.0248 0.2334 0.264 0.2096 0.21 0.02 0.22 0.26 0.2136 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127859 NA NA 0.236744 0.251475 NA 0.261 NA 3.6742893 1285 2 187500682 187500682 A G intronic ITGAV NA NA NA intronic ENSG00000138448 NA NA NA NA NA 2q32.1 NA NA NA NA rs3795865 0.21 0.21 0.191 0.221246 0.326 0.0774 0.2378 0.1596 0.3333 0.32 0.08 0.28 0.16 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393552 NA NA NA NA NA 0.304 NA 3.674 1285 2 233759695 233759695 G C intronic NGEF NA NA NA intronic ENSG00000066248 NA NA NA NA NA 2q37.1 NA NA NA NA rs938569 0.33 0.33 0.322 0.28734 0.326 0.3462 0.3934 0.2337 0.184 0.33 0.38 0.37 0.24 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6442 NA NA NA NA NA 0.181 NA 3.674 1285 4 1165587 1165587 C G intronic SPON2 NA NA NA intronic ENSG00000159674 NA NA NA NA NA 4p16.3 NA NA NA NA rs2242279 0.22 0.22 0.225 0.199481 0.326 0.2659 0.1931 0.0113 0.2597 0.32 0.26 0.19 0.02 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27605 NA NA NA NA NA 0.065 NA 3.674 1285 4 155461687 155461687 A C intronic PLRG1 NA NA NA intronic ENSG00000171566 NA NA NA NA NA 4q31.3 NA NA NA NA rs62330410 0.23 0.23 0.246 0.26238 0.326 0.1438 0.1931 0.267 0.362 0.3 0.13 0.21 0.25 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530178 NA NA NA NA NA 0.239 NA 3.674 1285 4 155465535 155465535 A G intronic PLRG1 NA NA NA intronic ENSG00000171566 NA NA NA NA NA 4q31.3 NA NA NA NA rs62330413 0.23 0.23 0.222 0.255591 0.326 0.1438 0.1945 0.2436 0.3579 0.3 0.13 0.21 0.23 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722351 NA NA NA NA NA 0.239 NA 3.674 1285 12 6883700 6883700 C T intronic LAG3 NA NA NA intronic ENSG00000089692 NA NA NA NA NA 12p13.31 NA NA NA NA rs2365095 0.37 0.37 0.381 0.388778 0.326 0.38 0.3689 0.5204 0.2986 0.32 0.36 0.35 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077231 NA NA NA NA NA 0.246 NA 3.674 1285 17 69617574 69617574 A G intergenic KCNJ2,SOX9 dist=1441391;dist=499587 NA NA ncRNA_exonic ENSG00000228118 NA NA NA NA NA 17q24.3 NA NA NA NA rs7223081 0.45 0.45 0.436 0.46885 0.326 0.5139 0.4265 0.5734 0.4581 0.33 0.51 0.41 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308274 NA NA NA NA NA 0.399 NA 3.674 1285 19 40148102 40148102 G A intronic LGALS16 NA NA NA intronic ENSG00000249861 NA NA NA NA NA 19q13.2 NA NA NA NA rs7245574 0.32 0.32 0.281 0.309105 0.326 0.3562 0.5548 0.1089 0.3395 0.33 0.38 0.48 0.13 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239111 NA NA NA NA NA 0.261 NA 3.674 1285 19 50316083 50316083 C T intronic FUZ NA NA NA intronic ENSG00000010361 NA NA NA NA NA 19q13.33 NA NA NA NA rs35816883 0.2 0.2 0.163 0.217252 0.326 0.0972 0.2147 0.1074 0.3793 0.32 0.08 0.25 0.1 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058397 NA NA NA NA NA 0.145 NA 3.674 1285 1 244723920 244723920 C G intronic C1orf101 NA NA NA intronic ENSG00000179397 NA NA NA NA NA 1q44 NA NA NA NA rs7522899 0.25 0.25 0.243 0.273562 0.0775 0.376 0.2464 0.4334 0.1728 0.07 0.36 0.23 0.43 0.1658 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719407 NA NA 0.082791 0.363822 NA 0.239 NA 3.673909 1285 12 101723239 101723239 T C intronic UTP20 NA NA NA intronic ENSG00000120800 NA NA NA NA NA 12q23.2 NA NA NA NA rs35512001 0.05 0.05 0.05 0.0435304 0.1143 0.003 0.0504 0.0083 0.0552 0.11 0.0035 0.06 0.01 0.0888 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018903 NA NA 0.123488 0.028824 NA 0.036 NA 3.673412 1285 1 228434467 228434467 T C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon13:c.T3996C:p.A1332A,ENSG00000154358:ENST00000422127:exon13:c.T3996C:p.A1332A,ENSG00000154358:ENST00000570156:exon14:c.T4272C:p.A1424A NA NA 1q42.13 NA NA NA NA rs7517108 0.67 0.67 0.627 0.66254 0.6421 0.6151 0.6902 0.848 0.4622 0.63 0.6 0.69 0.81 0.6689 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571096 NA NA 0.682384 0.827595 NA 0.652 NA 3.6732826 1285 1 27720178 27720178 T C intronic GPR3 NA NA NA intronic ENSG00000181773 NA NA NA NA NA 1p36.11 NA NA NA NA rs2504786 0.46 0.46 0.497 0.498602 0.327 0.4603 0.2277 0.885 0.3845 0.33 0.42 0.22 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248041 NA NA NA NA NA 0.42 NA 3.673 1285 1 89798802 89798802 A G intergenic LOC729930,GBP6 dist=42757;dist=30634 NA NA ncRNA_intronic ENSG00000233235 NA NA NA NA NA 1p22.2 NA NA NA NA rs4658131 0.29 0.29 0.268 0.291334 0.327 0.1339 0.438 0.348 0.2362 0.3 0.15 0.39 0.37 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118429 NA NA NA NA NA 0.21 NA 3.673 1285 1 160147510 160147510 G A intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs731853 0.33 0.33 0.296 0.290535 0.327 0.62 0.2709 0.0371 0.2699 0.33 0.61 0.3 0.04 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27208 NA NA NA NA NA 0.348 NA 3.673 1285 2 160637267 160637267 C A intronic CD302,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000241399,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs2303552 0.27 0.27 0.246 0.21885 0.327 0.2698 0.487 0.0287 0.1217 0.33 0.29 0.44 0.03 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202578 NA NA NA NA NA 0.341 NA 3.673 1285 6 31609813 31609813 C T intronic BAG6 NA NA NA intronic ENSG00000204463 NA NA NA NA NA 6p21.33 NA NA NA NA rs755714 0.28 0.28 0.26 0.248802 0.327 0.3492 0.3401 0.0174 0.3129 0.31 0.39 0.37 0.02 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.223236 NA NA NA NA NA 0.341 NA 3.673 1285 8 20007100 20007100 C T intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA NA NA NA rs145489006 NA NA NA 0.360224 0.327 0.4077 0.3141 0.388 0.3405 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051328 NA NA NA NA NA 0.022 NA 3.673 1285 8 26868167 26868167 A G intergenic ADRA1A,STMN4 dist=145245;dist=225647 NA NA downstream ENSG00000215288 NA NA NA Score=610;Name=lod=401 NA 8p21.2 NA NA NA NA rs6557972 0.89 0.89 0.864 0.878195 0.827 0.9335 0.902 0.9463 0.7648 0.82 0.94 0.9 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107357 NA NA NA NA NA 0.891 NA 3.673 1285 16 90104019 90104019 G A intronic GAS8 NA NA NA intronic ENSG00000141013 NA NA NA NA NA 16q24.3 NA NA NA NA rs2241036 0.33 0.33 0.328 0.363618 0.327 0.1577 0.317 0.5136 0.4438 0.32 0.18 0.32 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.923671 NA NA NA NA NA 0.312 NA 3.673 1285 20 18724990 18724990 G A intronic DTD1 NA NA NA intronic ENSG00000125821 NA NA NA NA NA 20p11.23 NA NA NA NA rs3827973 0.28 0.28 0.255 0.293331 0.327 0.4097 0.2349 0.1127 0.4243 0.33 0.35 0.21 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743174 NA NA NA NA NA 0.188 NA 3.673 1285 2 238269871 238269871 C G intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA NA NA rs2645769 0.2 0.2 0.217 0.222045 0.174 0.1012 0.1542 0.4054 0.1963 0.16 0.08 0.19 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040737 NA NA 0.153363 0.374277 ID=COSN166440;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.239 NA 3.672637 1285 X 301454 301454 G A intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs73178007 0.28 0.28 NA NA NA NA NA NA NA 0.28 0.34 0.19 0.29 0.0586 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563652 NA NA 0.268862 0.290293 NA NA NA 3.672538 1285 16 72093134 72093134 C A intronic HP NA NA NA UTR3 ENSG00000257017 ENST00000569639:c.*36C>A,ENST00000576168:c.*36C>A NA NA NA NA 16q22.2 NA NA NA NA rs3852780 0.09 0.09 0.057 0.086262 0.173 0.0218 0.0663 0.0121 0.1779 0.18 0.02 0.08 0.02 0.1476 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175543 NA NA 0.17372 0.046202 NA NA NA 3.6723467 1285 2 170411693 170411693 T C exonic FASTKD1 NA synonymous SNV FASTKD1:NM_024622:exon7:c.A1155G:p.L385L exonic ENSG00000138399 NA synonymous SNV ENSG00000138399:ENST00000453153:exon7:c.A1155G:p.L385L,ENSG00000138399:ENST00000453929:exon7:c.A1155G:p.L385L NA NA 2q31.1 NA NA NA NA rs2683455 0.71 0.71 0.676 0.679513 0.6779 0.755 0.7522 0.6876 0.5409 0.68 0.74 0.73 0.69 0.6636 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160441 NA NA 0.653023 0.677647 NA 0.645 NA 3.6721436 1285 18 7043455 7043455 C A intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs11663956 0.06 0.06 0.04 0.0371406 0.1252 NA 0.0504 0.0038 0.0204 0.13 NA 0.06 0.0041 0.0852 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.231403 NA NA 0.117497 0.024285 NA 0.058 NA 3.672103 1285 1 160146173 160146173 T C intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs881291 0.34 0.34 0.302 0.296326 0.328 0.624 0.2723 0.0499 0.2761 0.33 0.62 0.3 0.05 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331475 NA NA NA NA ID=COSN163291;OCCURENCE=1(breast) 0.348 NA 3.672 1285 1 204210750 204210750 C A intronic PLEKHA6 NA NA NA intronic ENSG00000143850 NA NA NA NA NA 1q32.1 NA NA NA NA rs4412655 0.36 0.36 0.343 0.327676 0.328 0.4762 0.4467 0.1846 0.2832 0.33 0.48 0.44 0.2 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760048 NA NA NA NA NA 0.304 NA 3.672 1285 2 210874246 210874246 T C intronic RPE NA NA NA intronic ENSG00000197713 NA NA NA NA NA 2q34 NA NA NA NA rs3738934 0.24 0.24 0.238 0.222244 0.328 0.2113 0.2738 0.0772 0.2843 0.33 0.21 0.31 0.11 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.98745 3.98745 NA NA NA NA 0.239 NA 3.672 1285 3 101383321 101383321 T C intronic ZBTB11 NA NA NA intronic ENSG00000066422 NA NA NA NA NA 3q12.3 NA NA NA NA rs13081846 0.29 0.29 0.297 0.27516 0.328 0.2917 0.2925 0.2632 0.2076 0.32 0.31 0.26 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196353 NA NA NA NA NA 0.217 NA 3.672 1285 8 26441562 26441562 A G intronic DPYSL2 NA NA NA intronic ENSG00000092964 NA NA NA NA NA 8p21.2 NA NA NA NA rs408753 0.39 0.39 0.413 0.439297 0.328 0.251 0.3271 0.6475 0.546 0.33 0.27 0.33 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.913512 NA NA NA NA NA 0.493 NA 3.672 1285 11 15009233 15009233 A T intergenic CALCA,CALCB dist=15401;dist=85913 NA NA ncRNA_exonic ENSG00000250640 NA NA NA NA NA 11p15.2 NA NA NA NA rs7358380 0.28 0.28 0.252 0.266973 0.328 0.1379 0.4697 0.2118 0.2679 0.32 0.16 0.45 0.22 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29467 NA NA NA NA NA 0.326 NA 3.672 1285 11 111715570 111715570 G C intronic ALG9 NA NA NA intronic ENSG00000086848,ENSG00000258529 NA NA NA NA NA 11q23.1 NA NA NA NA rs1346180 0.27 0.27 0.259 0.243411 0.328 0.1915 0.3228 0.1952 0.2188 0.32 0.18 0.36 0.23 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.274774 NA NA NA NA NA 0.312 NA 3.672 1285 13 111134780 111134780 G A intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs3803229 0.29 0.29 0.262 0.28115 0.328 0.3552 0.4078 0.1067 0.3027 0.32 0.37 0.38 0.09 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.549189 NA NA NA NA NA 0.246 NA 3.672 1285 15 59497437 59497437 G C intronic MYO1E NA NA NA intronic ENSG00000157483 NA NA NA NA NA 15q22.2 NA NA NA NA rs2414623 0.45 0.45 0.427 0.496206 0.328 0.6101 0.4784 0.444 0.635 0.33 0.63 0.42 0.44 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537829 NA NA NA NA NA 0.341 NA 3.672 1285 17 56290334 56290334 T C intronic MKS1 NA NA NA intronic ENSG00000011143 NA NA NA NA NA 17q22 NA NA NA NA rs3826300 0.45 0.45 0.487 0.480831 0.4404 0.2212 0.3026 0.854 0.4121 0.44 0.19 0.32 0.85 0.4466 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768081 NA NA 0.441429 0.788657 NA 0.493 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114214.2;CLNDSDB=.;CLNDSDBID=. 3.671571 1285 13 52971893 52971893 G A exonic THSD1 NA synonymous SNV THSD1:NM_018676:exon3:c.C495T:p.I165I,THSD1:NM_199263:exon3:c.C495T:p.I165I exonic ENSG00000136114 NA synonymous SNV ENSG00000136114:ENST00000258613:exon3:c.C495T:p.I165I,ENSG00000136114:ENST00000349258:exon3:c.C495T:p.I165I NA NA 13q14.3 NA NA NA NA rs3803264 0.61 0.61 0.606 0.58766 0.6889 0.6458 0.6383 0.4758 0.5389 0.67 0.63 0.64 0.48 0.638 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.587535 NA NA 0.668372 0.47163 NA 0.645 NA 3.6713946 1285 3 2404329 2404329 C T intronic CNTN4 NA NA NA ncRNA_exonic ENSG00000230398 NA NA NA NA NA 3p26.3 NA NA NA NA rs1847169 0.75 0.75 0.787 0.746206 0.662 0.88 0.5865 0.8654 0.6472 0.66 0.89 0.6 0.84 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481994 NA NA NA NA NA 0.768 NA 3.6713333 1285 14 33015014 33015014 G A exonic AKAP6 NA synonymous SNV AKAP6:NM_004274:exon4:c.G1155A:p.T385T exonic ENSG00000151320 NA synonymous SNV ENSG00000151320:ENST00000553547:exon3:c.G429A:p.T143T,ENSG00000151320:ENST00000280979:exon4:c.G1155A:p.T385T,ENSG00000151320:ENST00000557272:exon4:c.G1155A:p.T385T,ENSG00000151320:ENST00000557354:exon4:c.G1155A:p.T385T NA NA 14q12 NA NA NA NA rs7150894 0.74 0.74 0.731 0.728634 0.6561 0.6171 0.781 0.9781 0.544 0.68 0.62 0.75 0.97 0.6819 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423655 NA NA 0.657558 0.924194 NA 0.754 NA 3.6711086 1285 2 148680427 148680427 G C intronic ACVR2A NA NA NA intronic ENSG00000121989 NA NA NA NA NA 2q22.3 NA NA NA NA rs2303392 0.39 0.39 0.379 0.360823 0.329 0.4831 0.464 0.295 0.2832 0.35 0.49 0.45 0.31 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557983 NA NA NA NA NA 0.486 NA 3.671 1285 5 150838284 150838284 C G intronic SLC36A1 NA NA NA intronic ENSG00000123643 NA NA NA NA NA 5q33.1 NA NA NA NA rs35256722 0.45 0.45 0.446 0.484625 0.329 0.6438 0.2882 0.4909 0.6115 0.32 0.63 0.34 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27403 NA NA NA NA NA 0.391 NA 3.671 1285 7 138597036 138597036 A G intronic KIAA1549 NA NA NA intronic ENSG00000122778 NA NA NA NA NA 7q34 NA NA NA NA rs3735013 0.31 0.31 0.327 0.320687 0.329 0.0625 0.2104 0.6165 0.2566 0.32 0.08 0.22 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864355 NA NA NA NA NA 0.333 NA 3.671 1285 7 35271254 35271254 T C intronic TBX20 NA NA NA intronic ENSG00000164532 NA NA NA NA NA 7p14.2 NA NA NA NA rs2075047 0.12 0.12 0.129 0.0888578 0.1511 0.0625 0.1282 0.0794 0.0368 0.16 0.08 0.16 0.09 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.355714 2.355714 NA 0.17819 0.092486 NA 0.087 NA 3.67071 1285 2 20939706 20939706 T C intronic C2orf43 NA NA NA intronic ENSG00000118961 NA NA NA NA NA 2p24.1 NA NA NA NA rs2046325 0.3 0.3 0.113 NA NA NA NA NA NA 0.32 0.5 0.3 0.03 0.325 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325875 NA NA 0.00442 0.000908 NA NA NA 3.67058 1285 2 220136155 220136155 T C ncRNA_exonic TUBA4B NA NA NA ncRNA_exonic ENSG00000243910 NA NA NA Score=712;Name=lod=1039 NA 2q35 NA NA NA NA rs7594971 0.99 0.99 0.983 0.987021 1 1 0.9971 0.9523 1 1 1 1 0.95 0.9962 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227647 NA 1 NA NA NA 0.993 NA 3.6704666 1285 14 106791200 106791200 G A intergenic LINC00226,LINC00221 dist=46234;dist=147255 NA NA exonic ENSG00000211953 NA synonymous SNV ENSG00000211953:ENST00000390613:exon2:c.C156T:p.G52G NA NA 14q32.33 NA NA NA NA rs8017285 NA NA NA 0.484625 0.3708 0.5486 0.3905 0.5681 0.4898 NA NA NA NA 0.4567 0.0057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.810083 NA NA 0.002045 0.005699 NA NA NA 3.670455 1285 5 94852180 94852180 G A intronic TTC37 NA NA NA intronic ENSG00000198677 NA NA NA NA NA 5q15 NA NA NA NA rs6861524 0.12 0.12 0.126 0.136182 0.1093 0.0109 0.1095 0.3101 0.0767 0.11 0.0035 0.14 0.28 0.1103 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.477215 NA NA 0.110049 0.270246 NA 0.217 NA 3.670351 1285 6 32362433 32362433 C A downstream BTNL2,HCG23 NA NA NA intronic ENSG00000204290 NA NA NA NA NA 6p21.32 NA NA NA NA rs41443753 0.16 0.16 0.147 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116071 NA NA NA NA NA 0.145 NA 3.6703333 1285 6 32362453 32362453 A G downstream BTNL2,HCG23 NA NA NA intronic ENSG00000204290 NA NA NA NA NA 6p21.32 NA NA NA NA rs41499544 0.16 0.16 0.158 0.169329 0.163 0.1587 0.1657 0.1596 0.2025 0.16 0.18 0.18 0.14 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154085 NA NA NA NA NA 0.036 NA 3.6703333 1285 17 17050573 17050573 G A intronic MPRIP NA NA NA intronic ENSG00000133030 NA NA NA NA NA 17p11.2 NA NA Name=40 NA rs3744134 0.54 0.54 0.484 0.497204 0.6789 0.7153 0.5937 0.0817 0.5787 0.68 0.7 0.6 0.1 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671276 NA NA 0.650849 0.15896 NA 0.362 NA 3.670251 1285 5 37176091 37176091 A G intronic C5orf42 NA NA NA intronic ENSG00000197603 NA NA NA NA NA 5p13.2 NA NA NA NA rs10805625 0.12 0.12 0.126 0.142372 0.0954 0.0675 0.1499 0.2549 0.1104 0.09 0.02 0.17 0.24 0.1239 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.603572 NA NA 0.110698 0.222878 NA 0.058 NA 3.670002 1285 2 219288899 219288899 C T intronic VIL1 NA NA NA intronic ENSG00000127831 NA NA NA NA NA 2q35 NA NA NA NA rs3731866 0.22 0.22 0.22 0.194289 0.33 0.1081 0.3055 0.0923 0.2025 0.32 0.11 0.29 0.13 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111691 NA NA NA NA NA 0.239 NA 3.67 1285 5 6617011 6617011 C A intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA Name=CEBPB NA NA rs6887702 0.68 0.68 NA 0.666534 0.67 0.6736 0.6124 0.7095 0.636 0.66 0.68 0.65 0.72 0.66 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898593 NA NA NA NA NA 0.435 NA 3.67 1285 6 76735065 76735065 A G intronic IMPG1 NA NA NA intronic ENSG00000112706 NA NA NA NA NA 6q14.1 NA NA NA NA rs1341568 0.39 0.39 0.361 0.36881 0.33 0.4792 0.402 0.3268 0.3282 0.35 0.49 0.4 0.35 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762535 NA NA NA NA NA 0.384 NA 3.67 1285 9 95645020 95645020 A C intergenic ZNF484,FGD3 dist=4700;dist=64581 NA NA ncRNA_exonic ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs2296060 0.32 0.32 0.274 0.317891 0.33 0.125 0.4697 0.4304 0.2444 0.31 0.12 0.49 0.45 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449429 NA NA NA NA NA 0.326 NA 3.67 1285 2 133014678 133014678 A G ncRNA_intronic ANKRD30BL NA NA NA upstream ENSG00000221288 NA NA NA NA NA 2q21.2 NA NA NA NA rs72869462 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4971 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134014 NA NA NA NA NA 0.043 NA 3.6695666 1285 21 47699856 47699856 G A intronic MCM3AP NA NA NA intronic ENSG00000160294 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839195 0.18 0.18 0.207 0.205471 0.1173 0.006 0.0965 0.5537 0.1084 0.11 0.01 0.11 0.52 0.1146 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051054 NA NA 0.098605 0.466863 NA 0.254 NA 3.669495 1285 21 47678774 47678774 A G intronic MCM3AP NA NA NA ncRNA_intronic ENSG00000215424 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839178 0.61 0.61 0.596 0.625599 0.664 0.3641 0.7061 0.7526 0.6268 0.66 0.32 0.73 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205317 NA NA NA NA NA 0.565 NA 3.6693333 1285 20 25264910 25264910 T C intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA Name=Pol2 NA NA rs2257712 0.55 0.55 0.539 0.536941 0.4334 0.9107 0.3473 0.4516 0.5082 0.44 0.93 0.35 0.44 0.461 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362568 NA NA 0.436395 0.431684 NA 0.486 NA 3.669205 1285 2 170050472 170050472 T C intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs2075248 0.52 0.52 0.557 0.523962 0.331 0.5417 0.3127 0.8918 0.3569 0.35 0.56 0.33 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593342 NA NA NA NA NA 0.428 NA 3.669 1285 10 129179426 129179426 T C intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs7099958 0.31 0.31 0.294 0.306709 0.331 0.2599 0.2233 0.3578 0.32 0.33 0.27 0.28 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4175 NA NA NA NA NA 0.312 NA 3.669 1285 12 6953257 6953257 A C intronic GNB3 NA NA NA intronic ENSG00000111664 NA NA NA NA NA 12p13.31 NA NA NA NA rs11064426 0.52 0.52 0.468 0.539537 0.331 0.5556 0.4078 0.9047 0.3374 0.33 0.51 0.45 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537734 NA NA NA NA NA 0.442 NA 3.669 1285 16 28825420 28825420 C T intergenic EIF3CL,ATXN2L dist=78367;dist=8949 NA NA ncRNA_exonic ENSG00000240634 NA NA NA NA NA 16p11.2 NA NA NA NA rs11860513 0.27 0.27 0.232 0.262979 0.331 0.125 0.4885 0.2322 0.2168 0.34 0.13 0.41 0.21 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81243 NA NA NA NA NA 0.159 NA 3.669 1285 17 5358671 5358671 C T intronic DHX33 NA NA NA intronic ENSG00000005100 NA NA NA NA NA 17p13.2 NA NA NA NA rs11867311 0.43 0.43 0.459 0.458466 0.331 0.3661 0.2363 0.7912 0.3926 0.33 0.37 0.26 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.424469 1.424469 NA NA NA NA 0.428 NA 3.669 1285 19 53005249 53005249 A G intronic ZNF578 NA NA NA intronic ENSG00000258405 NA NA NA NA NA 19q13.41 NA NA NA NA rs9304729 0.25 0.25 0.26 0.269369 0.331 0.0853 0.317 0.3222 0.2904 0.32 0.08 0.32 0.28 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694897 NA NA NA NA NA 0.355 NA 3.669 1285 2 133014510 133014510 T C ncRNA_intronic ANKRD30BL NA NA NA downstream ENSG00000221288 NA NA NA NA NA 2q21.2 NA NA NA NA rs9287404 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4977 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614356 NA NA NA NA NA 0.058 NA 3.6689666 1285 12 122212525 122212525 C G intronic TMEM120B NA NA NA intronic ENSG00000188735 NA NA NA NA NA 12q24.31 NA NA NA NA rs11043195 0.23 0.23 0.227 0.286542 0.0924 0.3403 0.1239 0.4554 0.318 0.08 0.31 0.13 0.43 0.1566 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14358 NA NA 0.082057 0.387088 NA 0.225 NA 3.668943 1285 11 71249386 71249386 T C exonic KRTAP5-8 NA synonymous SNV KRTAP5-8:NM_021046:exon1:c.T285C:p.C95C exonic ENSG00000241233 NA synonymous SNV ENSG00000241233:ENST00000398534:exon1:c.T285C:p.C95C NA NA 11q13.4 NA Name=TCF12 NA NA rs7101792 0.89 0.89 0.998 0.997204 1 1 0.9798 1 1 0.9 0.92 0.91 0.83 0.9979 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322448 NA NA 0.999883 0.999318 NA 0.413 NA 3.6688836 1285 17 35478362 35478362 T C exonic ACACA NA synonymous SNV ACACA:NM_198837:exon48:c.A5904G:p.T1968T,ACACA:NM_198838:exon49:c.A5844G:p.T1948T,ACACA:NM_198834:exon50:c.A6189G:p.T2063T,ACACA:NM_198836:exon50:c.A6078G:p.T2026T,ACACA:NM_198839:exon54:c.A6078G:p.T2026T exonic ENSG00000132142 NA synonymous SNV ENSG00000132142:ENST00000361253:exon8:c.A456G:p.T152T,ENSG00000132142:ENST00000591119:exon17:c.A2034G:p.T678T,ENSG00000132142:ENST00000360679:exon48:c.A5904G:p.T1968T,ENSG00000132142:ENST00000335166:exon49:c.A5844G:p.T1948T,ENSG00000132142:ENST00000353139:exon50:c.A6189G:p.T2063T,ENSG00000132142:ENST00000394406:exon50:c.A6078G:p.T2026T Score=412;Name=lod=63 NA 17q12 NA NA NA NA rs1470452 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564483 NA NA 0.998488 0.999773 NA 0.899 NA 3.6686786 1285 7 142478986 142478986 A G ncRNA_intronic PRSS3P2 NA NA NA ncRNA_intronic ENSG00000250606 NA NA NA NA NA 7q34 NA NA NA NA rs73742443 NA NA 0.675 0.940096 0.998 0.997 0.9798 0.789 0.998 NA NA NA NA NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553825 NA NA NA NA NA 0.594 NA 3.6686666 1285 7 48280454 48280454 G A intronic ABCA13 NA NA NA intronic ENSG00000179869 NA NA NA NA NA 7p12.3 NA NA NA NA rs62449168 0.12 0.12 0.1 0.117013 0.1004 0.1528 0.1671 0.0295 0.18 0.1 0.18 0.16 0.04 0.1261 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.56372 NA NA 0.105013 0.04543 NA 0.094 NA 3.668487 1285 11 100207731 100207731 A C intronic CNTN5 NA NA NA ncRNA_exonic ENSG00000255547 NA NA NA NA NA 11q22.1 NA NA NA NA rs1216191 0.81 0.81 0.83 0.799321 0.665 0.9692 0.7046 0.91 0.68 0.65 0.98 0.71 0.92 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921581 NA NA NA NA NA 0.768 NA 3.6683333 1285 4 114458402 114458402 G A intronic CAMK2D NA NA NA intronic ENSG00000145349 NA NA NA NA NA 4q26 NA NA NA NA rs734348 0.37 0.37 0.368 0.348842 0.332 0.2956 0.3573 0.5439 0.1513 0.33 0.28 0.36 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28511 NA NA NA NA NA 0.355 NA 3.668 1285 14 51226439 51226439 C G intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA NA NA NA rs12892462 0.36 0.36 0.301 0.34365 0.332 0.5228 0.4395 0.1566 0.3558 0.34 0.53 0.45 0.14 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320049 NA NA NA NA NA 0.355 NA 3.668 1285 19 3823192 3823192 T C intronic ZFR2 NA NA NA intronic ENSG00000105278 NA NA NA NA NA 19p13.3 NA NA NA NA rs34503630 0.24 0.24 0.186 0.189896 0.332 0.2679 0.3357 0.0121 0.1002 0.32 0.26 0.35 0.02 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533971 NA NA NA NA NA 0.138 NA 3.668 1285 1 168208308 168208308 T C intronic SFT2D2 NA NA NA intronic ENSG00000213064 NA NA NA NA NA 1q24.2 NA Name=Pol2-4H8 NA NA rs12142742 0.57 0.57 0.567 0.534145 0.669 0.4405 0.5533 0.5741 0.4243 0.67 0.45 0.58 0.55 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687741 NA NA 0.663105 0.53685 NA 0.601 NA 3.667895 1285 19 10169477 10169477 G A ncRNA_intronic C3P1 NA NA NA ncRNA_intronic ENSG00000167798 NA NA NA Score=243;Name=lod=13 NA 19p13.2 NA NA NA NA rs11667515 0.66 0.66 0.682 0.638179 0.6839 0.4216 0.7104 0.8313 0.502 0.7 0.45 0.67 0.83 0.6571 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.813909 1.813909 NA 0.657933 0.804859 NA 0.696 NA 3.6677336 1285 10 69299446 69299446 T A intronic CTNNA3 NA NA NA intronic ENSG00000183230 NA NA NA NA NA 10q21.3 NA NA NA NA rs1909654 0.16 0.16 0.167 0.195487 0.0974 0.006 0.0937 0.5015 0.1503 0.09 0.0017 0.11 0.52 0.133 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.388629 1.388629 NA 0.102442 0.448025 NA 0.188 NA 3.667158 1285 1 81968520 81968520 A G intergenic NONE,LPHN2 dist=NONE;dist=297562 NA NA ncRNA_exonic ENSG00000227288 NA NA NA NA NA 1p31.1 NA NA NA NA rs6666988 0.51 0.51 0.489 0.602236 0.333 0.6101 0.5 0.9017 0.5389 0.29 0.55 0.46 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350916 NA NA NA NA NA 0.551 NA 3.667 1285 6 151130691 151130691 G C intronic PLEKHG1 NA NA NA intronic ENSG00000120278 NA NA NA NA NA 6q25.1 NA NA NA NA rs712216 0.25 0.25 0.247 0.213259 0.333 0.1786 0.1974 0.2027 0.1513 0.33 0.21 0.22 0.22 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77347 NA NA NA NA NA 0.246 NA 3.667 1285 9 114348513 114348513 G A intronic PTGR1 NA NA NA intronic ENSG00000106853 NA NA NA NA NA 9q31.3 NA NA NA NA rs2273786 0.34 0.34 0.355 0.358626 0.333 0.1815 0.3429 0.5461 0.3252 0.34 0.14 0.33 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266586 NA NA NA NA NA 0.406 NA 3.667 1285 10 79589904 79589904 C T intronic DLG5 NA NA NA intronic ENSG00000151208 NA NA NA NA NA 10q22.3 NA NA NA NA rs55854323 0.22 0.22 0.212 0.209864 0.333 0.1736 0.2233 0.0635 0.3088 0.32 0.2 0.26 0.06 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750554 NA NA NA NA NA 0.21 NA 3.667 1285 11 68839334 68839334 G A intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs10896415 0.2 0.2 0.164 0.158347 0.333 0.1855 0.2017 0.0363 0.0849 0.31 0.17 0.25 0.04 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.733321 NA NA NA NA NA 0.13 NA 3.667 1285 12 123339358 123339358 C G intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA NA NA rs2292137 0.21 0.21 0.202 0.160942 0.333 0.2014 0.2147 0.031 0.0798 0.34 0.19 0.22 0.03 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645924 NA NA NA NA NA 0.232 NA 3.667 1285 19 5694630 5694630 C T intronic LONP1 NA NA NA intronic ENSG00000196365 NA NA NA NA NA 19p13.3 NA NA NA NA rs2436514 0.32 0.32 0.301 0.3127 0.333 0.1319 0.3458 0.447 0.273 0.32 0.15 0.36 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394664 NA NA NA NA NA 0.413 NA 3.667 1285 1 111783996 111783996 A G exonic CHI3L2 NA synonymous SNV CHI3L2:NM_001025197:exon8:c.A936G:p.Q312Q,CHI3L2:NM_001025199:exon8:c.A729G:p.Q243Q,CHI3L2:NM_004000:exon9:c.A966G:p.Q322Q exonic ENSG00000064886 NA synonymous SNV ENSG00000064886:ENST00000472825:exon2:c.A54G:p.Q18Q,ENSG00000064886:ENST00000497220:exon4:c.A345G:p.Q115Q,ENSG00000064886:ENST00000369744:exon8:c.A936G:p.Q312Q,ENSG00000064886:ENST00000466741:exon8:c.A729G:p.Q243Q,ENSG00000064886:ENST00000524472:exon8:c.A729G:p.Q243Q,ENSG00000064886:ENST00000369748:exon9:c.A966G:p.Q322Q,ENSG00000064886:ENST00000445067:exon11:c.A966G:p.Q322Q Score=410;Name=lod=62 NA 1p13.3 NA NA NA NA rs2494007 1 1 0.999 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301773 NA NA 1 0.998184 NA 1 NA 3.6668666 1285 17 44360632 44360632 A C intergenic KANSL1,LRRC37A dist=57892;dist=11865 NA NA intronic ENSG00000228696 NA NA NA NA NA 17q21.31 NA NA NA NA rs79559587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343259 NA NA NA NA NA NA NA 3.6666667 1285 22 29806131 29806131 T C intergenic AP1B1,RFPL1S dist=21559;dist=26873 NA NA intronic ENSG00000100280 NA NA NA NA NA 22q12.2 NA NA NA NA rs142073843 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355207 NA NA NA NA NA NA NA 3.6666667 1285 22 29806132 29806132 A G intergenic AP1B1,RFPL1S dist=21560;dist=26872 NA NA intronic ENSG00000100280 NA NA NA NA NA 22q12.2 NA NA NA NA rs141132381 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766062 NA NA NA NA NA NA NA 3.6666667 1285 11 48347539 48347539 G A downstream OR4C3 NA NA NA downstream ENSG00000176547 NA NA NA NA NA 11p11.2 NA NA NA NA rs79172951 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477929 NA NA NA NA NA 0.065 NA 3.6666666 1285 11 116694054 116694054 T G upstream APOA4 NA NA NA upstream ENSG00000110244 NA NA NA NA NA 11q23.3 NA NA NA NA rs185319115 0.0046 0.0046 NA 0.00259585 NA NA 0.0058 0.0068 NA NA NA 0.01 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050171 NA NA NA NA NA 0.007 NA 3.6666666 1285 17 21903195 21903195 G C upstream FLJ36000 NA NA NA downstream ENSG00000266172 NA NA NA NA NA 17p11.2 NA NA NA NA rs71208397 NA NA 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628236 NA NA NA NA NA NA NA 3.6666666 1285 6 154749225 154749225 A T intronic CNKSR3 NA NA NA intronic ENSG00000153721 NA NA NA NA NA 6q25.2 NA NA Name=10 NA rs9384217 0.38 0.38 0.369 0.358427 0.4235 0.3889 0.379 0.2753 0.3579 0.4 0.4 0.43 0.28 0.4299 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676389 NA NA 0.479991 0.311847 NA 0.326 NA 3.666609 1285 5 37187489 37187489 G A intronic C5orf42 NA NA NA intronic ENSG00000197603 NA NA NA NA NA 5p13.2 NA NA NA NA rs78164677 0.12 0.12 0.122 0.144968 0.0954 0.0655 0.1556 0.2625 0.1115 0.09 0.02 0.18 0.25 0.1277 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.438213 1.438213 NA 0.110335 0.228078 NA 0.065 NA 3.666565 1285 12 62273224 62273224 G C intronic FAM19A2 NA NA NA ncRNA_exonic ENSG00000257528 NA NA NA NA NA 12q14.1 NA NA NA NA rs7308172 0.75 0.75 0.727 0.783546 0.667 0.874 0.7536 0.789 0.8241 0.68 0.84 0.73 0.78 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6953 NA NA NA NA NA 0.623 NA 3.6663333 1285 1 10357406 10357406 A G intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs3748577 0.35 0.35 0.332 0.32508 0.334 0.3472 0.3732 0.3116 0.2771 0.34 0.37 0.4 0.32 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.863507 NA NA NA NA NA 0.312 NA 3.666 1285 2 27015903 27015903 T C intronic CENPA NA NA NA intronic ENSG00000115163 NA NA NA NA NA 2p23.3 NA NA NA NA rs2289017 0.26 0.26 0.258 0.240815 0.334 0.2937 0.2378 0.115 0.2628 0.33 0.28 0.28 0.12 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406772 NA NA NA NA NA 0.268 NA 3.666 1285 2 27016259 27016259 A G intronic CENPA NA NA NA intronic ENSG00000115163 NA NA NA NA NA 2p23.3 NA NA NA NA rs11687642 0.26 0.26 0.254 0.240615 0.334 0.2927 0.2378 0.115 0.2628 0.33 0.28 0.28 0.12 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523665 NA NA NA NA NA 0.268 NA 3.666 1285 2 69045256 69045256 C A intronic ARHGAP25 NA NA NA intronic ENSG00000163219 NA NA NA NA NA 2p13.3 NA NA NA NA rs13418133 0.33 0.33 0.337 0.286142 0.334 0.4097 0.3156 0.2277 0.1677 0.31 0.49 0.27 0.23 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660933 NA NA NA NA NA 0.268 NA 3.666 1285 2 113590467 113590467 C T intronic IL1B NA NA NA intronic ENSG00000125538 NA NA NA NA NA 2q13 NA NA NA NA rs1143633 0.35 0.35 0.365 0.310903 0.334 0.5387 0.2911 0.174 0.2515 0.32 0.57 0.32 0.17 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43715 NA NA NA NA NA 0.326 NA 3.666 1285 2 201485747 201485747 G T intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs6761252 0.29 0.29 0.29 0.327276 0.334 0.1677 0.3199 0.3517 0.4571 0.33 0.16 0.33 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117794 NA NA NA NA NA 0.21 NA 3.666 1285 9 71850853 71850853 G A intronic TJP2 NA NA NA intronic ENSG00000119139 NA NA NA NA NA 9q21.11 NA NA NA NA rs2275431 0.22 0.22 0.2 0.228435 0.334 0.1706 0.1988 0.0832 0.3967 0.33 0.18 0.2 0.11 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523862 NA NA NA NA NA 0.312 NA 3.666 1285 10 12595443 12595443 C T intronic CAMK1D NA NA NA intronic ENSG00000183049 NA NA NA NA NA 10p13 NA NA NA NA rs1077744 0.25 0.25 0.211 0.252796 0.334 0.1002 0.2781 0.2421 0.3231 0.34 0.12 0.3 0.22 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702809 NA NA NA NA NA 0.203 NA 3.666 1285 10 100146895 100146895 T C intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs2296438 0.48 0.48 0.466 0.521166 0.334 0.5655 0.4755 0.6399 0.5399 0.34 0.57 0.45 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05375 NA NA NA NA NA 0.391 NA 3.666 1285 11 67554662 67554662 T G intergenic ALDH3B2,FAM86C2P dist=105977;dist=4576 NA NA ncRNA_intronic ENSG00000227620 NA NA NA NA NA 11q13.2 NA NA NA NA rs11227952 0.4 0.4 0.385 0.411142 0.334 0.6825 0.2867 0.2315 0.5419 0.36 0.67 0.29 0.23 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022485 NA NA NA NA NA 0.051 NA 3.666 1285 16 70531366 70531366 C T intronic COG4 NA NA NA intronic ENSG00000103051 NA NA NA NA NA 16q22.1 NA NA NA NA rs2303792 0.41 0.41 0.4 0.440096 0.334 0.5823 0.3833 0.2784 0.6616 0.33 0.59 0.4 0.33 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154019 NA NA NA NA NA 0.464 NA 3.666 1285 22 23098193 23098193 C T intergenic GGTLC2,MIR650 dist=107825;dist=67077 NA NA ncRNA_exonic ENSG00000253786 NA NA NA NA NA 22q11.22 NA NA NA NA rs34051623 0.23 0.23 0.211 0.240415 0.334 0.121 0.2089 0.1891 0.3589 0.34 0.08 0.25 0.21 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237953 NA NA NA NA NA 0.174 NA 3.666 1285 17 58011498 58011498 G T intronic RPS6KB1 NA NA NA intronic ENSG00000108443 NA NA NA Score=265;Name=lod=16 NA 17q23.1 NA NA NA NA rs180524 0.58 0.58 0.601 0.583466 0.4195 0.5764 0.4986 0.8971 0.3957 0.42 0.6 0.47 0.89 0.4781 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.382831 1.382831 NA 0.436816 0.811847 ID=COSN165480;OCCURENCE=1(breast) 0.645 NA 3.665584 1285 3 48454468 48454468 C T intronic PLXNB1 NA NA NA intronic ENSG00000164050 NA NA NA NA NA 3p21.31 NA NA Name=8 NA rs3214041 0.37 0.37 0.357 0.354633 0.4632 0.3413 0.3746 0.3048 0.3098 0.45 0.33 0.37 0.27 0.4017 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606031 NA NA 0.469535 0.332955 NA 0.449 NA 3.665565 1285 6 24433693 24433693 C T intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs76071181 0.13 0.13 0.126 0.109625 0.1879 0.1448 0.0922 0.0144 0.1339 0.2 0.15 0.09 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710564 NA NA 0.146541 0.03685 NA 0.08 NA 3.665559 1285 22 19506476 19506476 C T intronic CDC45 NA NA NA intronic ENSG00000093009 NA NA NA NA NA 22q11.21 NA NA NA NA rs13447289 0.14 0.14 0.141 0.128994 0.0954 0.252 0.1239 0.0885 0.0951 0.1 0.26 0.11 0.09 0.1273 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012474 NA NA 0.111744 0.095552 NA 0.094 NA 3.665556 1285 3 197409526 197409526 T C intronic KIAA0226 NA NA NA intronic ENSG00000145016 NA NA NA NA NA 3q29 NA NA NA NA rs9817144 0.2 0.2 0.217 0.22524 0.1113 0.0327 0.0793 0.615 0.1176 0.11 0.04 0.08 0.6 0.1237 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607917 NA NA 0.099601 0.517463 NA 0.312 NA 3.665399 1285 11 12903565 12903565 G A intronic TEAD1 NA NA NA intronic ENSG00000187079 NA NA NA NA NA 11p15.2 NA NA NA NA rs2304734 0.23 0.23 0.196 0.16234 0.164 0.4732 0.1167 0.0068 0.0828 0.18 0.53 0.15 0.01 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712155 NA NA 0.170647 0.037572 NA 0.123 NA 3.665353 1285 22 38341134 38341134 T C exonic C22orf23 NA synonymous SNV C22orf23:NM_001207062:exon4:c.A333G:p.T111T,C22orf23:NM_032561:exon5:c.A396G:p.T132T exonic ENSG00000128346 NA synonymous SNV ENSG00000128346:ENST00000249079:exon5:c.A396G:p.T132T,ENSG00000128346:ENST00000403026:exon5:c.A396G:p.T132T,ENSG00000128346:ENST00000403305:exon5:c.A396G:p.T132T,ENSG00000128346:ENST00000418863:exon5:c.A396G:p.T132T NA NA 22q13.1 NA NA NA NA rs139859 0.77 0.77 0.777 0.78135 0.6531 0.8353 0.67 0.9667 0.6861 0.65 0.83 0.64 0.96 0.6933 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555301 NA NA 0.655 0.927826 NA 0.768 NA 3.6652666 1286 2 201488435 201488435 T C intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs3795968 0.29 0.29 0.282 0.328275 0.335 0.1677 0.3199 0.3555 0.456 0.33 0.16 0.33 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065136 NA NA NA NA NA 0.21 NA 3.665 1286 7 2290336 2290336 T A intronic NUDT1 NA NA NA intronic ENSG00000106268 NA NA NA NA NA 7p22.3 NA NA NA NA rs10249180 0.44 0.44 NA 0.301518 0.335 0.1964 0.2277 0.4153 0.274 0.54 0.38 0.39 0.37 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746989 NA NA NA NA NA 0.21 NA 3.665 1286 10 99125788 99125788 G C intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs10882907 0.38 0.38 0.391 0.415136 0.335 0.3105 0.3501 0.5946 0.409 0.33 0.28 0.34 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298253 NA NA NA NA NA 0.341 NA 3.665 1286 10 99130127 99130127 A G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs3737194 0.42 0.42 0.406 0.465455 0.335 0.3641 0.3559 0.7231 0.4335 0.33 0.33 0.34 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850608 NA NA NA NA NA 0.384 NA 3.665 1286 17 55674423 55674423 G A intronic MSI2 NA NA NA intronic ENSG00000153944 NA NA NA NA NA 17q22 NA NA NA NA rs6503820 0.34 0.34 0.311 0.336262 0.335 0.2877 0.4294 0.3147 0.3507 0.33 0.32 0.39 0.33 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068721 NA NA NA NA NA 0.391 NA 3.665 1286 20 8741188 8741188 A G intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs2294596 0.41 0.41 0.371 0.36242 0.335 0.5516 0.487 0.2753 0.2249 0.36 0.56 0.41 0.29 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558179 NA NA NA NA NA 0.333 NA 3.665 1286 4 17586703 17586703 T C exonic LAP3 NA synonymous SNV LAP3:NM_015907:exon6:c.T648C:p.A216A exonic ENSG00000002549 NA synonymous SNV ENSG00000002549:ENST00000513105:exon2:c.T150C:p.A50A,ENSG00000002549:ENST00000226299:exon6:c.T648C:p.A216A,ENSG00000002549:ENST00000606142:exon6:c.T555C:p.A185A NA NA 4p15.32 NA NA NA NA rs3733576 0.78 0.78 0.779 0.764377 0.659 0.9018 0.7637 0.8396 0.6299 0.66 0.94 0.73 0.82 0.7088 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82616 NA NA 0.633953 0.822061 NA 0.812 NA 3.6649136 1286 7 107834624 107834624 T C intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA Name=MafF_(M8194),MafK_(SC-477),GR,ERalpha_a,MafK_(ab50322) Name=8 NA rs6978315 0.73 0.73 0.702 0.698882 0.7992 0.8839 0.8012 0.441 0.681 0.8 0.89 0.8 0.4 0.7562 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.493919 1.493919 NA 0.779767 0.506582 NA 0.609 NA 3.664833 1286 8 121353651 121353651 A G intronic COL14A1 NA NA NA intronic ENSG00000187955 NA NA NA NA NA 8q24.12 Score=949;Name=V$CEBPB_01 NA NA NA rs1563391 0.51 0.51 0.537 0.516573 0.4334 0.4395 0.464 0.674 0.5061 0.43 0.47 0.46 0.73 0.465 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0599 NA NA 0.436769 0.647702 NA 0.529 NA 3.664831 1286 14 92102932 92102932 A G intronic CATSPERB NA NA NA intronic ENSG00000133962 NA NA NA NA NA 14q32.12 NA NA NA NA rs4900084 0.12 0.12 0.124 0.109824 0.1064 0.0526 0.0965 0.2284 0.0215 0.09 0.05 0.1 0.25 0.1125 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582576 NA NA 0.116279 0.209033 NA 0.152 NA 3.664821 1286 3 53259996 53259996 G A intronic TKT NA NA NA intronic ENSG00000163931 NA NA NA NA NA 3p21.1 NA NA Name=3 NA rs3816767 0.43 0.43 0.444 0.435304 0.4642 0.6032 0.4207 0.2088 0.5491 0.46 0.59 0.4 0.21 0.4416 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293935 NA NA 0.429419 0.242397 NA 0.457 NA 3.664781 1286 4 69342169 69342169 G C intronic TMPRSS11E NA NA NA intronic ENSG00000087128 NA NA NA NA NA 4q13.2 NA NA Name=37 NA rs983745 0.56 0.56 0.584 0.579273 0.4433 0.7688 0.451 0.5817 0.6115 0.44 0.76 0.47 0.57 0.4775 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160606 NA NA 0.414419 0.518611 NA 0.652 NA 3.664781 1286 18 28723596 28723596 G C intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs2577072 0.37 0.37 0.378 0.346645 0.2137 0.5685 0.3761 0.4123 0.1452 0.2 0.58 0.35 0.41 0.2664 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519277 NA NA 0.188532 0.403768 NA 0.261 NA 3.6647013 1286 5 147492384 147492384 T G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs72660259 0.19 0.19 0.202 0.22504 0.0885 0.3105 0.0778 0.292 0.2914 0.09 0.31 0.08 0.28 0.1515 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438149 NA NA 0.095517 0.258938 NA 0.174 NA 3.664483 1286 3 53267155 53267155 G A intronic TKT NA NA NA intronic ENSG00000163931 NA NA NA NA NA 3p21.1 NA Name=Pol2-4H8 NA NA rs2242301 0.43 0.43 0.443 0.434904 0.4652 0.5923 0.4193 0.2156 0.5491 0.46 0.58 0.4 0.22 0.4407 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194222 NA NA 0.429884 0.244893 NA 0.457 NA 3.664216 1286 6 155776854 155776854 T G intronic NOX3 NA NA NA intronic ENSG00000074771 NA NA NA NA NA 6q25.3 NA NA NA NA rs6906426 0.1 0.1 0.092 0.10643 0.0964 0.1181 0.2104 0.0439 0.1155 0.09 0.12 0.18 0.04 0.133 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774805 NA NA 0.106512 0.054925 NA 0.08 NA 3.664088 1286 19 55698859 55698859 G A intronic PTPRH NA NA NA intronic ENSG00000080031 NA NA NA NA NA 19q13.42 NA NA NA NA rs68070528 0.15 0.15 0.146 0.167332 0.1113 0.1696 0.0749 0.2292 0.2045 0.11 0.16 0.08 0.24 0.1277 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027937 NA NA 0.096977 0.206083 NA 0.167 NA 3.664023 1286 1 166545037 166545037 A G intergenic FAM78B,FMO9P dist=409079;dist=28116 NA NA ncRNA_intronic ENSG00000238087 NA NA NA NA NA 1q24.1 NA NA NA NA rs12142142 0.17 0.17 0.144 0.145966 0.336 0.002 0.196 0.0703 0.1656 0.33 NA 0.23 0.09 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635515 NA NA NA NA NA 0.152 NA 3.664 1286 1 212553111 212553111 G C intronic TMEM206 NA NA NA intronic ENSG00000065600 NA NA NA NA NA 1q32.3 NA NA NA NA rs701905 0.23 0.23 0.211 0.194688 0.336 0.1151 0.2608 0.1452 0.1513 0.33 0.11 0.3 0.15 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.373035 1.373035 NA NA NA NA 0.167 NA 3.664 1286 2 31590759 31590759 C T intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs2281550 0.29 0.29 0.272 0.253195 0.336 0.256 0.2637 0.2141 0.2106 0.35 0.27 0.3 0.21 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392133 NA NA NA NA NA 0.261 NA 3.664 1286 4 113748777 113748777 C T intronic ANK2 NA NA NA intronic ENSG00000145362 NA NA NA NA NA 4q25 NA NA NA NA rs13108692 0.31 0.31 0.306 0.31889 0.336 0.3581 0.3429 0.2504 0.3364 0.33 0.35 0.33 0.24 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635171 NA NA NA NA NA 0.29 NA 3.664 1286 5 178267999 178267999 G A intergenic AACSP1,ZNF354B dist=64722;dist=18955 NA NA ncRNA_exonic ENSG00000253725 NA NA NA NA NA 5q35.3 NA NA NA NA rs11743902 0.26 0.26 0.245 0.270767 0.336 0.2778 0.2161 0.1876 0.3476 0.33 0.24 0.28 0.19 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182264 NA NA NA NA NA 0.355 NA 3.664 1286 10 100155296 100155296 T G intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs11189591 0.46 0.46 0.44 0.488419 0.336 0.5645 0.4741 0.5151 0.5409 0.34 0.57 0.45 0.52 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50468 NA NA NA NA NA 0.348 NA 3.664 1286 12 104341015 104341015 T C intronic HSP90B1 NA NA NA intronic ENSG00000166598 NA NA NA NA NA 12q23.3 NA NA NA NA rs1165694 0.45 0.45 0.465 0.456869 0.336 0.4692 0.4625 0.6362 0.3221 0.33 0.47 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098935 NA NA NA NA NA 0.471 NA 3.664 1286 12 122468756 122468756 A G intronic BCL7A NA NA NA intronic ENSG00000110987 NA NA NA NA NA 12q24.31 NA NA NA NA rs59397548 0.35 0.35 0.33 0.333067 0.336 0.5446 0.3919 0.1135 0.3671 0.34 0.55 0.37 0.11 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398436 NA NA NA NA NA 0.239 NA 3.664 1286 15 79024355 79024355 A G intergenic CHRNB4,LOC646938 dist=90768;dist=20024 NA NA ncRNA_intronic ENSG00000261303 NA NA NA NA NA 15q25.1 NA NA NA NA rs34099810 0.19 0.19 0.178 0.184105 0.336 0.1002 0.1556 0.0605 0.3016 0.34 0.09 0.18 0.08 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.668536 1.668536 NA NA NA NA 0.181 NA 3.664 1286 11 13729639 13729639 G A intronic FAR1 NA NA NA intronic ENSG00000197601 NA NA NA NA NA 11p15.2 NA NA NA NA rs183124096 0.09 0.09 NA 0.146965 0.172 0.0397 0.134 0.1225 0.274 0.12 0.02 0.14 0.09 0.1643 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.477637 2.477637 NA NA NA NA NA NA 3.6637 1286 11 13729640 13729640 A T intronic FAR1 NA NA NA intronic ENSG00000197601 NA NA NA NA NA 11p15.2 NA NA NA NA rs187817189 0.09 0.09 NA 0.146965 0.172 0.0397 0.134 0.1225 0.274 0.12 0.02 0.14 0.09 0.1643 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.60266 3.60266 NA NA NA NA NA NA 3.6637 1286 3 124412691 124412691 G T intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs16835881 0.11 0.11 0.115 0.117412 0.1014 0.0694 0.1182 0.18 0.0982 0.09 0.06 0.13 0.19 0.114 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36959 NA NA 0.121075 0.184294 NA 0.181 NA 3.663525 1286 2 31589654 31589654 T C intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs13387204 0.32 0.32 0.312 0.285343 0.337 0.2579 0.2781 0.3253 0.2117 0.35 0.28 0.31 0.33 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762908 NA NA NA NA NA 0.29 NA 3.663 1286 3 170929190 170929190 T C intronic TNIK NA NA NA intronic ENSG00000154310 NA NA NA NA NA 3q26.31 NA NA NA NA rs2292004 0.38 0.38 0.357 0.378395 0.337 0.5764 0.3991 0.208 0.4325 0.33 0.6 0.35 0.21 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472797 NA NA NA NA NA 0.406 NA 3.663 1286 4 6580283 6580283 A G intronic MAN2B2 NA NA NA intronic ENSG00000013288 NA NA NA NA NA 4p16.1 NA NA NA NA rs3764809 0.35 0.35 0.316 0.332468 0.337 0.5317 0.3516 0.1558 0.3476 0.34 0.52 0.37 0.14 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089453 NA NA NA NA NA 0.348 NA 3.663 1286 5 32388485 32388485 G C intronic ZFR NA NA NA intronic ENSG00000056097 NA NA NA NA NA 5p13.3 NA NA NA NA rs3811972 0.28 0.28 0.284 0.251797 0.337 0.2698 0.2622 0.1452 0.2822 0.32 0.29 0.32 0.17 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.47672 2.47672 NA NA NA NA 0.174 NA 3.663 1286 6 42689411 42689411 G A intronic PRPH2 NA NA NA intronic ENSG00000112619 NA NA NA NA NA 6p21.1 NA NA NA NA rs6928781 0.34 0.34 0.322 0.33147 0.337 0.4732 0.379 0.2761 0.2209 0.32 0.44 0.4 0.23 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721116 NA NA NA NA NA 0.413 NA 3.663 1286 7 73108205 73108205 G A intronic WBSCR22 NA NA NA intronic ENSG00000071462 NA NA NA NA NA 7q11.23 NA NA NA NA rs2293488 0.23 0.23 0.196 0.232428 0.337 0.1756 0.3473 0.0325 0.3722 0.33 0.18 0.36 0.02 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177019 NA NA NA NA NA 0.196 NA 3.663 1286 10 99144867 99144867 C G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs61861865 0.24 0.24 0.148 0.404752 0.337 0.3125 0.3415 0.5552 0.411 0.21 0.2 0.24 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142882 NA NA NA NA NA NA NA 3.663 1286 11 18909134 18909134 C T intergenic PTPN5,MRGPRX1 dist=95745;dist=46226 NA NA ncRNA_exonic ENSG00000254541 NA NA NA NA NA 11p15.1 NA NA NA NA rs12363823 0.27 0.27 0.231 0.280751 0.337 0.3274 0.3127 0.0726 0.4335 0.35 0.33 0.3 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932067 NA NA NA NA NA 0.355 NA 3.663 1286 12 122212659 122212659 C T intronic TMEM120B NA NA NA intronic ENSG00000188735 NA NA NA NA NA 12q24.31 NA NA NA NA rs11043196 0.23 0.23 0.218 0.284545 0.0934 0.3304 0.1239 0.4554 0.317 0.08 0.31 0.14 0.43 0.1618 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949921 NA NA 0.081823 0.382247 NA 0.225 NA 3.662977 1286 9 90388539 90388539 T A ncRNA_exonic CTSL3P NA NA NA ncRNA_exonic ENSG00000188029 NA NA NA Score=458;Name=lod=97 NA 9q21.33 NA NA NA NA rs10735592 0.75 0.75 0.752 0.735024 0.6372 0.8304 0.768 0.7738 0.6616 0.66 0.82 0.76 0.81 0.7098 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196508 NA NA 0.656744 0.77054 NA 0.804 NA 3.6629226 1286 3 132198156 132198156 C T intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs62292951 0.1 0.1 0.082 0.0944489 0.1133 0.1181 0.1311 0.0053 0.1452 0.13 0.11 0.14 0.01 0.1143 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182143 NA NA 0.109495 0.025897 NA 0.065 NA 3.662905 1286 7 156468378 156468378 C A intronic RNF32 NA NA NA ncRNA_intronic ENSG00000225666 NA NA NA NA NA 7q36.3 NA NA NA NA rs2886381 0.33 0.33 0.047 0.376997 0.2903 0.4097 0.379 0.5227 0.2342 0.25 0.37 0.3 0.43 0.3302 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295501 NA NA 0.050116 0.171811 NA NA NA 3.6627173 1286 17 4701820 4701820 G T downstream PSMB6 NA NA NA downstream ENSG00000142507 NA NA NA NA NA 17p13.2 NA NA NA NA rs57101757 0.02 0.02 NA 0.0257588 0.004 NA 0.0043 0.0923 NA 0.0013 NA 0.0028 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338203 NA NA NA NA NA 0.014 NA 3.6626666 1286 17 49054439 49054439 T C intronic SPAG9 NA NA NA intronic ENSG00000008294 NA NA NA NA NA 17q21.33 NA NA Name=28 NA rs9332407 0.37 0.37 0.354 0.344848 0.4563 0.2312 0.4539 0.3268 0.2945 0.44 0.23 0.47 0.36 0.4246 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041978 NA NA 0.457093 0.366092 ID=COSN165463;OCCURENCE=1(breast) 0.355 NA 3.662007 1286 1 10428452 10428452 G A intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs12130563 0.36 0.36 0.339 0.334065 0.338 0.3462 0.3761 0.3351 0.2863 0.34 0.37 0.41 0.34 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372611 NA NA NA NA ID=COSN162930;OCCURENCE=1(breast) 0.312 NA 3.662 1286 2 79254101 79254101 T G intronic REG3G NA NA NA intronic ENSG00000143954 NA NA NA NA NA 2p12 NA NA NA NA rs396461 0.43 0.43 0.362 0.461262 0.338 0.4494 0.415 0.5159 0.5593 0.34 0.48 0.43 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338484 NA NA NA NA NA 0.42 NA 3.662 1286 2 113588302 113588302 C T intronic IL1B NA NA NA intronic ENSG00000125538 NA NA NA NA NA 2q13 NA NA NA NA rs1143643 0.33 0.33 0.312 0.28774 0.338 0.497 0.2853 0.1354 0.228 0.32 0.52 0.31 0.13 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308566 NA NA NA NA NA 0.275 NA 3.662 1286 3 147885110 147885110 T C intergenic ZIC1,AGTR1 dist=750604;dist=530548 NA NA ncRNA_intronic ENSG00000244650 NA NA NA NA NA 3q24 NA NA NA NA rs2045350 0.38 0.38 0.337 0.39377 0.338 0.375 0.438 0.4501 0.363 0.34 0.39 0.42 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70889 NA NA NA NA NA 0.275 NA 3.662 1286 9 98224360 98224360 C G intronic PTCH1 NA NA NA intronic ENSG00000185920 NA NA NA NA NA 9q22.32 NA NA NA NA rs2274692 0.41 0.41 0.432 0.401358 0.338 0.3433 0.2334 0.7224 0.2117 0.35 0.34 0.22 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124824 NA NA NA NA NA 0.362 NA 3.662 1286 17 48683200 48683200 G C intronic CACNA1G NA NA NA intronic ENSG00000006283 NA NA NA NA NA 17q21.33 NA NA NA NA rs3744521 0.43 0.43 0.38 0.413339 0.338 0.8849 0.4798 0.0446 0.456 0.34 0.88 0.4 0.07 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392606 1.392606 NA NA NA NA 0.312 NA 3.662 1286 19 44976058 44976058 C T intergenic ZNF229,ZNF180 dist=23393;dist=3801 NA NA ncRNA_exonic ENSG00000176761 NA NA NA NA NA 19q13.31 NA NA NA NA rs2571053 0.19 0.19 0.194 0.172125 0.338 0.002 0.1715 0.1974 0.1431 0.34 0.0017 0.18 0.2 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428273 NA NA NA NA NA 0.283 NA 3.662 1286 21 47692798 47692798 C T intronic MCM3AP NA NA NA intronic ENSG00000160294 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839188 0.29 0.29 0.248 0.278954 0.338 0.2599 0.4496 0.146 0.2965 0.34 0.26 0.46 0.13 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04151 NA NA NA NA NA 0.203 NA 3.662 1286 8 143959250 143959250 T C intronic CYP11B1 NA NA NA exonic ENSG00000160882 NA synonymous SNV ENSG00000160882:ENST00000377675:exon4:c.A531G:p.L177L NA NA 8q24.3 NA NA NA NA rs7818826 0.59 0.59 0.547 0.591054 0.5825 0.8065 0.6398 0.3729 0.638 0.57 0.8 0.62 0.36 0.5889 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.966768 NA NA NA NA NA 0.601 NA 3.6619333 1286 19 3738971 3738971 A G exonic TJP3 NA synonymous SNV TJP3:NM_001267560:exon13:c.A1470G:p.P490P,TJP3:NM_001267561:exon13:c.A1497G:p.P499P exonic ENSG00000105289 NA synonymous SNV ENSG00000105289:ENST00000262968:exon12:c.A1569G:p.P523P,ENSG00000105289:ENST00000539908:exon12:c.A1362G:p.P454P,ENSG00000105289:ENST00000587686:exon12:c.A1527G:p.P509P,ENSG00000105289:ENST00000382008:exon13:c.A1512G:p.P504P,ENSG00000105289:ENST00000541714:exon13:c.A1470G:p.P490P,ENSG00000105289:ENST00000589378:exon13:c.A1497G:p.P499P NA NA 19p13.3 NA NA NA NA rs600986 0.69 0.69 0.687 0.698482 0.667 0.6181 0.8112 0.7179 0.7076 0.65 0.66 0.78 0.7 0.677 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253467 NA NA 0.660814 0.720154 NA 0.725 NA 3.6618526 1286 22 36545016 36545016 C G intronic APOL3 NA NA NA intronic ENSG00000128284 NA NA NA NA NA 22q12.3 NA NA NA NA rs9610412 0.19 0.19 0.213 0.18151 0.1779 0.0337 0.1383 0.3873 0.09 0.18 0.04 0.16 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448381 NA NA 0.160277 0.37789 NA 0.312 NA 3.661823 1286 14 73138189 73138189 C A intronic DPF3 NA NA NA intronic ENSG00000205683 NA NA NA Score=295;Name=lod=21 NA 14q24.2 NA NA NA NA rs1060570 0.47 0.47 0.428 0.492212 0.4453 0.6875 0.4078 0.3593 0.5787 0.42 0.63 0.44 0.35 0.4562 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424266 NA NA 0.436715 0.361872 NA 0.37 NA 3.661785 1286 1 226550924 226550924 G C intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA Name=GATA-2 NA NA rs747657 0.46 0.46 0.458 0.486621 0.6759 0.2054 0.4971 0.4463 0.6288 0.65 0.2 0.52 0.43 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053207 NA NA 0.662476 0.467486 NA 0.435 NA 3.661624 1286 11 48186104 48186104 C A intronic PTPRJ NA NA NA intronic ENSG00000149177 NA NA NA NA NA 11p11.2 NA NA NA NA rs12225986 0.1 0.1 0.059 0.0844649 0.1054 0.1468 0.0893 0.0038 0.1043 0.11 0.16 0.09 0.002 0.1167 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287819 NA NA 0.11645 0.026806 ID=COSN163926;OCCURENCE=1(breast) 0.087 NA 3.66145 1286 15 34537617 34537617 G A intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs74010036 0.08 0.08 0.072 0.0898562 0.1083 0.0258 0.0821 0.0703 0.1687 0.11 0.02 0.11 0.08 0.1073 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095185 NA NA 0.122964 0.076783 NA 0.043 NA 3.661436 1286 14 45633522 45633522 A G intronic FANCM NA NA NA intronic ENSG00000187790 NA NA NA NA NA 14q21.2 NA NA NA NA rs78455731 0.09 0.09 0.083 0.10643 0.1153 0.119 0.1081 0.0068 0.2178 0.13 0.12 0.09 0.01 0.1183 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525866 NA NA 0.105233 0.022923 NA 0.109 NA 3.661167 1286 1 36935128 36935128 G A intronic CSF3R NA NA NA intronic ENSG00000119535 NA NA NA NA NA 1p34.3 NA NA NA NA rs3917989 0.22 0.22 0.195 0.253594 0.339 0.125 0.2017 0.2012 0.4059 0.34 0.1 0.24 0.17 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733833 NA NA NA NA NA 0.21 NA 3.661 1286 1 205033374 205033374 T C intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA NA NA NA rs2305277 0.49 0.49 0.461 0.557109 0.339 0.876 0.5591 0.3457 0.7372 0.33 0.86 0.49 0.32 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301646 NA NA NA NA NA 0.355 NA 3.661 1286 2 228996637 228996637 G A intronic SPHKAP NA NA NA intronic ENSG00000153820 NA NA NA NA NA 2q36.3 NA NA NA NA rs4479423 0.39 0.39 0.341 0.367212 0.339 0.4901 0.5187 0.2867 0.271 0.33 0.47 0.49 0.3 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009892 NA NA NA NA NA 0.362 NA 3.661 1286 5 94749969 94749969 C G intronic FAM81B NA NA NA intronic ENSG00000153347 NA NA NA NA NA 5q15 NA NA NA NA rs6556866 0.24 0.24 0.254 0.219848 0.339 0.1071 0.2478 0.2428 0.1626 0.33 0.11 0.26 0.24 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058903 NA NA NA NA NA 0.391 NA 3.661 1286 6 44107640 44107640 C T intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs10807295 0.26 0.26 0.249 0.251198 0.339 0.0437 0.3372 0.3185 0.2229 0.34 0.05 0.36 0.3 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639886 NA NA NA NA NA 0.377 NA 3.661 1286 8 59535861 59535861 T A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs116544617 NA NA NA 0.275958 0.339 0.2927 0.2032 0.261 0.2658 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621471 NA NA NA NA NA NA NA 3.661 1286 9 139929015 139929015 C G intronic C9orf139 NA NA NA intronic ENSG00000180539 NA NA NA NA NA 9q34.3 NA NA NA NA rs9411293 0.26 0.26 0.218 0.254193 0.339 0.2351 0.3818 0.1513 0.2352 0.32 0.24 0.35 0.15 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64233 NA NA NA NA NA 0.29 NA 3.661 1286 10 29801848 29801848 G A intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA NA NA 10p11.23 NA NA NA NA rs12775779 0.23 0.23 0.207 0.202676 0.339 0.0794 0.2911 0.1604 0.184 0.34 0.1 0.3 0.16 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00667 NA NA NA NA NA 0.29 NA 3.661 1286 12 78571186 78571186 T C intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs1020461 0.34 0.34 0.335 0.365615 0.339 0.3472 0.3055 0.3109 0.5286 0.34 0.35 0.36 0.3 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.464345 NA NA NA NA NA 0.283 NA 3.661 1286 12 106730034 106730034 C T intronic TCP11L2 NA NA NA intronic ENSG00000166046 NA NA NA NA NA 12q23.3 NA NA NA NA rs10717199 NA NA NA 0.0936502 0.1879 0.0317 0.1052 0.0764 0.0757 NA NA NA NA 0.1511 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.138491 2.138491 NA NA NA NA NA NA 3.661 1286 12 125467238 125467238 G C intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs12424339 0.39 0.39 0.394 0.397963 0.339 0.4206 0.2579 0.4947 0.4039 0.35 0.42 0.28 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001281 NA NA NA NA NA 0.406 NA 3.661 1286 16 31372290 31372290 T C intronic ITGAX NA NA NA intronic ENSG00000140678 NA NA NA NA NA 16p11.2 NA NA NA NA rs11150617 0.4 0.4 0.382 0.298323 0.339 0.6706 0.3228 0.1044 0.1176 0.35 0.73 0.36 0.13 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381414 NA NA NA NA NA 0.362 NA 3.661 1286 16 81740829 81740829 T C intronic CMIP NA NA NA intronic ENSG00000153815 NA NA NA NA NA 16q23.3 NA NA NA NA rs67721827 0.31 0.31 0.31 0.328075 0.339 0.1796 0.3141 0.4024 0.3793 0.33 0.2 0.32 0.41 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052278 NA NA NA NA NA 0.341 NA 3.661 1286 19 13006687 13006687 G A intronic GCDH NA NA NA intronic ENSG00000105607 NA NA NA NA NA 19p13.2 NA NA NA NA rs12151303 0.3 0.3 0.269 0.334665 0.339 0.1438 0.4553 0.4644 0.2658 0.31 0.13 0.43 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706428 NA NA NA NA NA 0.065 NA 3.661 1286 19 52148617 52148617 A G intronic SIGLEC14 NA NA NA intronic ENSG00000105501,ENSG00000254415,ENSG00000268500 NA NA NA NA NA 19q13.41 NA NA NA NA rs4544342 0.38 0.38 0.377 0.436701 0.339 0.4335 0.3948 0.4841 0.5061 0.34 0.33 0.37 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631006 NA NA NA NA NA 0.399 NA 3.661 1286 1 167487586 167487586 C G intronic CD247 NA NA NA intronic ENSG00000198821 NA NA NA NA NA 1q24.2 NA NA NA NA rs35864197 0.09 0.09 0.091 0.110823 0.1501 0.0298 0.1095 0.0424 0.2474 0.15 0.03 0.12 0.07 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176142 NA NA 0.189189 0.080202 NA 0.145 NA 3.660711 1286 2 100916306 100916306 A G exonic LONRF2 NA synonymous SNV LONRF2:NM_198461:exon5:c.T1140C:p.F380F exonic ENSG00000170500 NA synonymous SNV ENSG00000170500:ENST00000393437:exon5:c.T1140C:p.F380F,ENSG00000170500:ENST00000409647:exon5:c.T411C:p.F137F NA NA 2q11.2 NA NA NA NA rs2033748 0.78 0.78 0.777 0.771366 0.673 0.9405 0.7349 0.8911 0.5624 0.66 0.95 0.68 0.85 0.6885 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.563429 1.563429 NA 0.644535 0.832728 NA 0.688 NA 3.6606316 1286 1 168513109 168513109 A G intronic XCL2 NA NA NA intronic ENSG00000143185 NA NA NA NA NA 1q24.2 NA NA NA NA rs3820404 0.13 0.13 0.103 0.196885 0.2028 0.0327 0.1772 0.3442 0.1748 0.15 0.01 0.17 0.2 0.1368 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078484 NA NA NA NA NA NA NA 3.6604 1286 19 48250203 48250203 T A intronic GLTSCR2 NA NA NA intronic ENSG00000105373 NA NA NA NA NA 19q13.33 NA NA NA NA rs2334292 0.05 0.05 0.051 0.04373 0.1233 0.002 0.0591 0.0038 0.0481 0.12 0.0017 0.06 0.0041 0.0909 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39173 NA NA 0.125465 0.02837 NA 0.08 NA 3.660335 1286 14 92582472 92582472 G A UTR3 NDUFB1 NM_004545:c.*65C>T NA NA UTR3 ENSG00000183648 ENST00000553514:c.*65C>T,ENST00000329559:c.*65C>T,ENST00000605997:c.*65C>T,ENST00000555441:c.*65C>T NA NA NA NA 14q32.12 NA NA NA NA rs13350 0.54 0.54 0.568 0.539137 0.334 0.8552 0.379 0.5492 0.5245 0.34 0.87 0.35 0.6 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04852 NA NA 0.339095 0.50578 NA 0.486 NA 3.6602384 1286 1 200960915 200960915 T C intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs12142447 0.26 0.26 0.254 0.263778 0.1541 0.2976 0.2032 0.4531 0.1288 0.16 0.32 0.17 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772515 NA NA 0.185732 0.455202 NA 0.181 NA 3.660168 1286 15 88726586 88726586 G A intronic NTRK3 NA NA NA intronic ENSG00000140538 NA NA NA NA NA 15q25.3 NA NA NA NA rs55725904 0.19 0.19 0.178 0.217652 0.166 0.1498 0.2046 0.2519 0.3037 0.18 0.17 0.22 0.2 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918078 NA NA 0.173899 0.22971 NA 0.181 NA 3.660101 1286 4 82369494 82369494 G T intronic RASGEF1B NA NA NA intronic ENSG00000138670 NA NA NA NA NA 4q21.21 NA NA NA NA rs28409763 0.4 0.4 0.42 0.435104 0.34 0.2252 0.2349 0.8003 0.3978 0.35 0.2 0.25 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914309 NA NA NA NA NA 0.464 NA 3.66 1286 19 13006685 13006685 T C intronic GCDH NA NA NA intronic ENSG00000105607 NA NA NA NA NA 19p13.2 NA NA NA NA rs2238641 0.27 0.27 0.231 0.279752 0.34 0.1438 0.4481 0.2587 0.2669 0.31 0.13 0.41 0.24 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804566 NA NA NA NA NA NA NA 3.66 1286 20 3175742 3175742 A G intronic DDRGK1 NA NA NA intronic ENSG00000198171 NA NA NA NA NA 20p13 NA NA NA NA rs2295551 0.34 0.34 0.324 0.366014 0.34 0.4008 0.3069 0.3079 0.4775 0.35 0.37 0.33 0.29 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633687 NA NA NA NA NA 0.362 NA 3.66 1286 1 24784214 24784214 G A intronic NIPAL3 NA NA NA intronic ENSG00000001461 NA NA NA NA NA 1p36.11 NA NA NA NA rs41268761 0.08 0.08 0.063 0.0634984 0.1233 0.005 0.0821 0.0545 0.0613 0.14 0.0017 0.09 0.05 0.0956 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627798 NA NA 0.121296 0.058219 NA 0.022 NA 3.659804 1286 17 19835112 19835112 C T intronic AKAP10 NA NA NA intronic ENSG00000108599 NA NA NA NA NA 17p11.2 NA NA NA NA rs61749865 0.08 0.08 0.069 0.0802716 0.1123 0.0794 0.1239 0.0182 0.1012 0.11 0.07 0.1 0.02 0.1042 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473872 NA NA 0.123953 0.040853 NA 0.123 NA 3.659547 1286 1 151825991 151825991 G T exonic THEM5 NA synonymous SNV THEM5:NM_182578:exon1:c.C51A:p.G17G exonic ENSG00000196407 NA synonymous SNV ENSG00000196407:ENST00000368817:exon1:c.C51A:p.G17G NA NA 1q21.3 NA NA NA NA rs7556386 0.67 0.67 0.635 0.626597 0.6859 0.6567 0.562 0.7421 0.4243 0.71 0.64 0.6 0.7 0.6443 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036221 NA NA 0.676977 0.721289 NA 0.717 NA 3.6594896 1286 17 65191647 65191647 T G intronic HELZ NA NA NA intronic ENSG00000198265 NA NA NA NA NA 17q24.2 NA NA NA NA rs3213753 0.19 0.19 0.175 0.196086 0.1769 0.1984 0.1614 0.2511 0.1636 0.18 0.19 0.14 0.22 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772686 NA NA 0.163734 0.24422 NA 0.188 NA 3.659366 1286 19 312311 312311 G C intronic MIER2 NA NA NA intronic ENSG00000105556 NA NA NA NA NA 19p13.3 NA NA NA NA rs60199290 0.21 0.21 0.197 0.217452 0.1272 0.0278 0.232 0.5363 0.0644 0.13 0.04 0.22 0.52 0.1427 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045365 NA NA 0.070963 0.404448 NA 0.109 NA 3.659137 1286 2 96955480 96955480 T C intronic SNRNP200 NA NA NA intronic ENSG00000144028 NA NA NA NA NA 2q11.2 NA NA NA NA rs3214058 0.3 0.3 0.306 0.384984 0.341 0.2599 0.3271 0.2844 0.7362 0.34 0.24 0.32 0.27 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488103 NA NA NA NA NA 0.232 NA 3.659 1286 4 39271541 39271541 A G intronic WDR19 NA NA NA intronic ENSG00000157796 NA NA NA NA NA 4p14 NA NA NA NA rs3733280 0.27 0.27 0.268 0.278554 0.341 0.2629 0.2392 0.2678 0.273 0.33 0.22 0.23 0.28 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170568 NA NA NA NA NA 0.312 NA 3.659 1286 4 88957562 88957562 T C intronic PKD2 NA NA NA intronic ENSG00000118762 NA NA NA NA NA 4q22.1 NA NA NA NA rs17786456 0.17 0.17 0.161 0.143371 0.341 NA 0.1729 0.0961 0.1309 0.35 NA 0.21 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674606 NA NA NA NA NA 0.239 NA 3.659 1286 12 117662712 117662712 G A intronic NOS1 NA NA NA intronic ENSG00000089250 NA NA NA NA NA 12q24.22 NA NA NA NA rs2293046 0.51 0.51 0.55 0.540535 0.341 0.4792 0.5994 0.7791 0.4448 0.34 0.45 0.56 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303464 NA NA NA NA NA 0.601 NA 3.659 1286 16 31339625 31339625 G A intronic ITGAM NA NA NA intronic ENSG00000169896 NA NA NA NA NA 16p11.2 NA NA NA NA rs28372932 0.39 0.39 0.364 0.289936 0.341 0.6567 0.3199 0.0817 0.1196 0.34 0.72 0.36 0.08 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315108 NA NA NA NA NA 0.341 NA 3.659 1286 17 4722606 4722606 G A intronic PLD2 NA NA NA intronic ENSG00000129219 NA NA NA NA NA 17p13.2 NA NA NA NA rs3764899 0.43 0.43 0.411 0.442891 0.341 0.7133 0.4222 0.2716 0.5153 0.33 0.7 0.37 0.3 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309639 NA NA NA NA NA 0.304 NA 3.659 1286 17 74684124 74684124 T G intronic MXRA7 NA NA NA intronic ENSG00000182534 NA NA NA NA NA 17q25.1 NA NA NA NA rs2286588 0.28 0.28 0.216 0.26278 0.341 0.1498 0.3674 0.2118 0.2935 0.35 0.15 0.4 0.23 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588212 NA NA NA NA NA 0.239 NA 3.659 1286 22 20838436 20838436 T C intronic KLHL22 NA NA NA intronic ENSG00000099910 NA NA NA NA NA 22q11.21 NA NA NA NA rs5749808 0.36 0.36 0.339 0.3127 0.341 0.4613 0.2334 0.2632 0.2536 0.34 0.49 0.29 0.28 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588918 NA NA NA NA NA 0.203 NA 3.659 1286 6 167116160 167116160 C T intronic RPS6KA2 NA NA NA ncRNA_exonic ENSG00000235008 NA NA NA NA NA 6q27 NA NA NA NA rs3817828 0.61 0.61 0.599 0.607827 0.675 0.7946 0.6599 0.2247 0.8272 0.69 0.78 0.63 0.27 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.600654 NA NA NA NA NA 0.645 NA 3.6583333 1286 2 96966661 96966661 G C intronic SNRNP200 NA NA NA intronic ENSG00000144028 NA NA NA NA NA 2q11.2 NA NA NA NA rs3731930 0.29 0.29 0.293 0.381589 0.3419 0.2798 0.3242 0.2564 0.7372 0.34 0.26 0.32 0.23 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029275 NA NA NA NA ID=COSN166204;OCCURENCE=1(breast) 0.217 NA 3.6581 1286 8 17920567 17920567 C T intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs7387930 0.36 0.36 0.277 0.374201 0.3419 0.376 0.4914 0.2383 0.5061 0.33 0.36 0.52 0.27 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728721 NA NA NA NA NA 0.297 NA 3.6581 1286 10 29818827 29818827 C T intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA NA NA 10p11.23 NA NA NA NA rs3780843 0.27 0.27 0.262 0.261382 0.3419 0.0754 0.3127 0.32 0.2546 0.35 0.09 0.33 0.31 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409156 NA NA NA NA NA 0.312 NA 3.6581 1286 16 25264440 25264440 T C intronic ZKSCAN2 NA NA NA intronic ENSG00000155592 NA NA NA NA NA 16p12.1 NA NA NA NA rs11643089 0.42 0.42 0.426 0.446286 0.3419 0.4593 0.4308 0.5817 0.3681 0.34 0.44 0.4 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481552 NA NA NA NA NA 0.42 NA 3.6581 1286 19 17186136 17186136 C A intronic HAUS8 NA NA NA intronic ENSG00000131351 NA NA NA NA NA 19p13.11 NA Name=HA-E2F1,Pol2-4H8,KAP1,YY1,Pol2(b),TBP,Nrf1,ZBTB7A_(SC-34508),HEY1,NFKB,TAF7_(SQ-8),YY1_(C-20),E2F6,NRSF,Pol2,TCF4,POU2F2,E2F4,E2F6_(H-50),TAF1,Oct-2 NA NA rs2305751 0.67 0.67 0.611 0.715056 0.6491 0.5109 0.8084 0.8132 0.7945 0.66 0.51 0.77 0.8 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691001 NA NA 0.69296 0.815029 NA 0.71 NA 3.65794 1286 1 146397489 146397489 G T intronic NBPF10 NA NA NA intronic ENSG00000186275 NA NA NA NA NA 1q21.1 NA NA NA NA rs71271428 0.16 0.16 NA 0.162939 0.169 0.1865 0.3271 0.056 0.1605 0.15 0.17 0.28 0.06 0.1732 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795123 NA NA NA NA NA NA NA 3.6578 1286 19 50386340 50386340 T C intronic TBC1D17 NA NA NA intronic ENSG00000104946 NA NA NA NA NA 19q13.33 NA Name=KAP1 NA NA rs746738 0.48 0.48 0.458 0.54353 0.4245 0.4266 0.4899 0.6762 0.6452 0.42 0.41 0.49 0.63 0.4872 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947399 NA NA 0.430565 0.651976 NA 0.355 NA 3.657735 1286 6 117252672 117252672 C A UTR3 RFX6 NM_173560:c.*3C>A NA NA UTR3 ENSG00000185002 ENST00000332958:c.*3C>A NA NA NA NA 6q22.1 NA NA NA NA rs631089 0.3 0.3 0.293 0.339058 0.2286 0.4226 0.2896 0.2905 0.4673 0.23 0.41 0.27 0.29 0.2698 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252836 NA NA 0.177251 0.276441 NA 0.319 NA 3.6576824 1286 9 113445108 113445108 A T intronic MUSK NA NA NA intronic ENSG00000030304 NA NA NA NA NA 9q31.3 NA NA NA NA rs75001517 0.07 0.07 0.05 0.0551118 0.1322 0.0069 0.0692 0.0393 0.0368 0.14 0.01 0.08 0.03 0.1046 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821538 NA NA 0.105724 0.035815 NA 0.065 NA 3.657476 1286 17 12901688 12901688 G A intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs56405144 0.05 0.05 0.068 0.0495208 0.1203 0.001 0.0764 0.0053 0.0675 0.12 NA 0.07 0.01 0.0975 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.962789 NA NA 0.124884 0.022696 NA 0.058 NA 3.657316 1286 5 141049407 141049407 G A intronic ARAP3 NA NA NA intronic ENSG00000120318 NA NA NA NA NA 5q31.3 NA Name=ZNF263,CTCF NA NA rs3763120 0.43 0.43 0.386 0.421126 0.4463 0.4395 0.4957 0.3268 0.4509 0.45 0.45 0.52 0.33 0.452 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261906 NA NA 0.444419 0.345665 ID=COSN167573;OCCURENCE=1(large_intestine) 0.348 NA 3.657281 1286 6 7845244 7845244 C T intronic BMP6 NA NA NA intronic ENSG00000153162 NA NA NA NA NA 6p24.3 NA NA NA NA rs267192 0.46 0.46 0.437 0.459465 0.3429 0.7312 0.5331 0.3071 0.453 0.35 0.72 0.5 0.31 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734899 NA NA NA NA NA 0.558 NA 3.6571 1286 9 112225774 112225774 T C intronic PTPN3 NA NA NA intronic ENSG00000070159 NA NA NA NA NA 9q31.3 NA NA NA NA rs2274786 0.37 0.37 0.387 0.397564 0.3429 0.3462 0.2997 0.4887 0.453 0.35 0.35 0.33 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106367 NA NA NA NA NA 0.406 NA 3.6571 1286 9 112225832 112225832 C G intronic PTPN3 NA NA NA intronic ENSG00000070159 NA NA NA NA NA 9q31.3 NA NA NA NA rs3808877 0.38 0.38 0.398 0.407748 0.3429 0.3462 0.3084 0.5242 0.4509 0.35 0.35 0.34 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001925 NA NA NA NA NA 0.42 NA 3.6571 1286 14 23882186 23882186 T G intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs7149517 0.34 0.34 0.344 0.351038 0.3429 0.0843 0.245 0.7065 0.229 0.33 0.07 0.29 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426766 NA NA NA NA NA 0.464 NA 3.6571 1286 14 23885997 23885997 G A intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs3729828 0.34 0.34 0.348 0.349641 0.3429 0.0952 0.2392 0.7095 0.2106 0.32 0.08 0.28 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08051 NA NA NA NA NA 0.464 NA 3.6571 1286 3 154802920 154802920 T C intronic MME NA NA NA intronic ENSG00000196549 NA NA NA NA NA 3q25.2 NA NA NA NA rs4607069 0.08 0.08 0.067 0.109625 0.1153 0.0992 0.085 0.0696 0.1861 0.1 0.07 0.09 0.08 0.1199 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833876 NA NA 0.107723 0.075207 NA 0.058 NA 3.657077 1286 1 9009547 9009547 C A intronic CA6 NA NA NA intronic ENSG00000131686 NA NA NA NA NA 1p36.23 NA NA NA NA rs2274331 0.14 0.14 0.161 0.153554 0.1203 0.1637 0.0749 0.2005 0.1697 0.12 0.17 0.08 0.18 0.1155 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964274 NA NA 0.107492 0.184294 NA 0.123 NA 3.656708 1286 2 231065722 231065722 A T intronic SP110 NA NA NA intronic ENSG00000135899 NA NA NA NA NA 2q37.1 NA NA NA NA rs41309108 0.16 0.16 0.157 0.204872 0.1004 0.2093 0.0749 0.2746 0.3057 0.11 0.21 0.1 0.24 0.1407 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228413 NA NA 0.102209 0.251702 ID=COSN166426;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.152 NA 3.656691 1286 12 21665207 21665207 A G intronic GOLT1B NA NA NA intronic ENSG00000111711 NA NA NA NA NA 12p12.1 NA NA NA NA rs61926342 0.05 0.05 0.041 0.0511182 0.1173 0.0069 0.0836 0.0038 0.0695 0.1 0.0035 0.09 0.0041 0.0986 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727998 NA NA 0.127558 0.021562 NA 0.101 NA 3.656542 1286 10 113913222 113913222 T C UTR3 GPAM NM_020918:c.*86A>G,NM_001244949:c.*86A>G NA NA UTR3 ENSG00000119927 ENST00000348367:c.*86A>G,ENST00000423155:c.*86A>G NA NA NA NA 10q25.2 NA NA NA NA rs2297991 0.7 0.7 0.699 0.730631 0.6769 0.7579 0.647 0.6936 0.8671 0.67 0.73 0.66 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.440509 2.440509 NA NA NA NA 0.623 NA 3.6564334 1286 17 12917856 12917856 G A intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs56004910 0.05 0.05 0.068 0.0495208 0.1203 0.001 0.0764 0.0053 0.0675 0.11 NA 0.07 0.01 0.0978 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045228 NA NA 0.125581 0.022696 NA 0.058 NA 3.656319 1286 4 69181942 69181942 G A intronic YTHDC1 NA NA NA UTR3 ENSG00000083896 ENST00000507529:c.*39C>T NA NA NA NA 4q13.2 NA NA NA NA rs12649108 0.29 0.29 0.273 0.2498 0.2555 0.5407 0.1772 0.087 0.2157 0.28 0.54 0.19 0.09 0.2549 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562655 NA NA NA NA NA 0.232 NA 3.6562667 1286 1 149089962 149089962 A C intergenic LOC645166,LOC388692 dist=136908;dist=189514 NA NA ncRNA_exonic ENSG00000179571 NA NA NA NA NA 1q21.2 NA NA NA NA rs1849365 0.47 0.47 0.458 0.522165 0.3439 0.6429 0.5202 0.4569 0.6708 0.34 0.64 0.48 0.45 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372627 NA NA NA NA NA 0.435 NA 3.6561 1286 10 3147501 3147501 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs4881081 0.33 0.33 0.332 0.333267 0.3439 0.1637 0.4092 0.3911 0.365 0.34 0.17 0.46 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547754 NA NA NA NA NA 0.312 NA 3.6561 1286 15 34030887 34030887 A G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs12907197 0.41 0.41 0.419 0.427516 0.3439 0.4623 0.2911 0.466 0.5225 0.33 0.49 0.34 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119426 NA NA NA NA NA 0.362 NA 3.6561 1286 19 43860053 43860053 G A intronic CD177 NA NA NA intronic ENSG00000204936 NA NA NA NA NA 19q13.31 NA NA NA NA rs10408630 0.38 0.38 0.405 0.358027 0.3439 0.1984 0.3285 0.6634 0.1452 0.32 0.23 0.34 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185669 NA NA NA NA NA 0.261 NA 3.6561 1286 19 57678738 57678738 A G intronic DUXA NA NA NA intronic ENSG00000258873 NA NA NA NA NA 19q13.43 NA NA NA NA rs17273610 0.1 0.1 0.099 0.124601 0.1074 0.1597 0.1182 0.0923 0.1544 0.11 0.13 0.09 0.08 0.115 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354178 NA NA 0.121512 0.085338 NA 0.196 NA 3.656088 1286 5 33624496 33624496 G A intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs34333679 0.1 0.1 0.095 0.0858626 0.1352 0.002 0.0893 0.1475 0.0358 0.13 0.0017 0.12 0.16 0.0961 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590582 NA NA 0.113023 0.145937 NA 0.072 NA 3.655677 1286 19 54722594 54722594 T C intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs3852891 0.09 0.09 0.12 0.14397 0.1103 0.002 0.134 0.3389 0.0685 0.07 NA 0.1 0.24 0.1166 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757609 NA NA 0.117442 0.300045 NA NA NA 3.655658 1286 19 54722595 54722595 G A intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs3852892 0.1 0.1 0.109 0.14397 0.1103 0.002 0.134 0.3389 0.0685 0.07 NA 0.1 0.24 0.1165 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159496 NA NA 0.117791 0.300045 NA NA NA 3.655409 1286 15 73581444 73581444 A G intronic NEO1 NA NA NA intronic ENSG00000067141 NA NA NA NA NA 15q24.1 NA NA Name=4 NA rs489531 0.47 0.47 0.454 0.45627 0.4682 0.5863 0.3919 0.382 0.456 0.48 0.62 0.38 0.34 0.4448 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261823 NA NA 0.431697 0.387398 NA 0.333 NA 3.655303 1286 1 54370264 54370264 A T intronic DIO1 NA NA NA intronic ENSG00000211452 NA NA NA NA NA 1p32.3 NA NA NA NA rs2294511 0.37 0.37 0.341 0.374002 0.3449 0.245 0.5447 0.4266 0.3446 0.35 0.24 0.52 0.42 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21649 NA NA NA NA NA 0.42 NA 3.6551 1286 9 140002754 140002754 C T intronic MAN1B1 NA NA NA intronic ENSG00000177239 NA NA NA NA NA 9q34.3 NA NA NA NA rs4880090 0.17 0.17 0.173 0.169928 0.3449 0.006 0.219 0.0356 0.3057 0.35 0.0017 0.25 0.05 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348356 NA NA NA NA NA 0.283 NA 3.6551 1286 12 133768273 133768273 G C intronic ZNF268 NA NA NA intronic ENSG00000090612,ENSG00000256825 NA NA NA NA NA 12q24.33 NA NA NA NA rs10870589 0.29 0.29 0.298 0.296326 0.3449 0.1121 0.2565 0.447 0.2607 0.35 0.08 0.26 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950421 NA NA NA NA NA 0.304 NA 3.6551 1286 14 90756503 90756503 G A intronic NRDE2 NA NA NA intronic ENSG00000119720 NA NA NA NA NA 14q32.11 NA NA NA NA rs3742672 0.19 0.19 0.185 0.172324 0.3449 0.0675 0.2277 0.0287 0.2577 0.36 0.08 0.27 0.02 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597237 NA NA NA NA NA 0.217 NA 3.6551 1286 14 92268531 92268531 C T intronic TC2N NA NA NA intronic ENSG00000165929 NA NA NA NA NA 14q32.12 NA NA NA NA rs10498631 0.29 0.29 0.265 0.278155 0.3449 0.3373 0.2997 0.1679 0.2822 0.35 0.3 0.31 0.18 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526358 NA NA NA NA NA 0.232 NA 3.6551 1286 17 80443309 80443309 G A intronic NARF NA NA NA intronic ENSG00000141562 NA NA NA NA NA 17q25.3 NA NA NA NA rs9890316 0.55 0.55 NA 0.567093 0.3449 0.9048 0.5605 0.5734 0.4438 0.32 0.88 0.54 0.53 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009426 NA NA NA NA NA 0.051 NA 3.6551 1287 19 50375035 50375035 T C intronic AKT1S1 NA NA NA intronic ENSG00000204673 NA NA NA NA NA 19q13.33 NA NA Name=4 NA rs2290774 0.48 0.48 0.448 0.544329 0.4294 0.4246 0.4741 0.6967 0.6299 0.42 0.41 0.48 0.65 0.4846 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866896 NA NA 0.431047 0.663187 NA 0.362 NA 3.654953 1287 7 99972122 99972122 A G intronic PILRA NA NA NA intronic ENSG00000085514 NA NA NA NA NA 7q22.1 NA NA NA NA rs7792525 0.1 0.1 0.091 0.103834 0.1759 0.0278 0.1023 0.1036 0.1094 0.18 0.02 0.1 0.08 0.1693 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076518 NA NA NA NA NA 0.116 NA 3.6548 1287 22 51182485 51182485 A G intronic ACR NA NA NA intronic ENSG00000100312 NA NA NA Score=251;Name=lod=14 NA 22q13.33 NA NA NA NA rs6009961 0.58 0.58 0.541 0.638379 0.6839 0.4018 0.6484 0.8979 0.4775 0.61 0.32 0.59 0.81 0.6613 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.972316 1.972316 NA NA NA NA 0.703 NA 3.6548 1287 4 143158979 143158979 A C intronic INPP4B NA NA NA intronic ENSG00000109452 NA NA NA NA NA 4q31.21 NA NA NA NA rs28647625 0.08 0.08 0.076 0.0848642 0.1054 0.0188 0.085 0.1354 0.0634 0.09 0.02 0.1 0.1 0.132 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649891 NA NA 0.107985 0.107666 NA 0.072 NA 3.654615 1287 2 220353104 220353104 A G intronic SPEG NA NA NA ncRNA_intronic ENSG00000227432 NA NA NA NA NA 2q35 NA NA NA NA rs875097 0.56 0.56 0.514 0.497604 0.6789 0.7679 0.5648 0.1112 0.5072 0.68 0.75 0.55 0.15 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129941 NA NA NA NA NA 0.536 NA 3.6544333 1287 5 176765395 176765395 G A intronic LMAN2 NA NA NA intronic ENSG00000169223 NA NA NA NA NA 5q35.3 NA NA NA NA rs11748912 0.35 0.35 0.354 0.372804 0.3459 0.0764 0.3213 0.7231 0.2689 0.33 0.09 0.35 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136688 NA NA NA NA NA 0.457 NA 3.6541 1287 4 144801671 144801671 A C intronic GYPE NA NA NA intronic ENSG00000197465 NA NA NA NA NA 4q31.21 NA NA NA NA rs71612487 0.26 0.26 0.163 NA NA NA NA NA NA 0.32 0.3 0.35 0.07 0.346 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082999 NA NA NA NA NA 0.007 NA 3.654 1287 17 27944089 27944089 C T intronic CORO6 NA NA NA ncRNA_intronic ENSG00000264031 NA NA NA NA NA 17q11.2 NA NA NA NA rs11657079 0.15 0.15 0.148 0.127196 0.2406 0.0228 0.1556 0.1346 0.0879 0.24 0.02 0.17 0.13 0.1965 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088511 NA 0 0.242674 0.144803 NA 0.087 NA 3.6535593 1287 12 122839909 122839909 C T intronic CLIP1 NA NA NA intronic ENSG00000130779 NA NA NA NA NA 12q24.31 NA NA NA NA rs3817012 0.2 0.2 0.181 0.182308 0.1044 0.4494 0.1095 0.0272 0.2485 0.11 0.49 0.13 0.04 0.1392 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909003 NA NA 0.102907 0.037222 NA 0.094 NA 3.653493 1287 19 54756155 54756155 T C intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs45446093 0.12 0.12 0.117 0.104433 0.1759 0.0129 0.1729 0.084 0.1043 0.17 0.01 0.21 0.1 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756726 NA NA 0.170647 0.108382 NA 0.101 NA 3.653453 1287 11 116720089 116720089 T C intronic SIK3 NA NA NA ncRNA_intronic ENSG00000235910 NA NA NA NA NA 11q23.3 NA NA NA NA rs2289893 0.56 0.56 0.544 0.538139 0.6799 0.3542 0.536 0.6248 0.4663 0.69 0.34 0.59 0.61 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174641 NA NA NA NA NA 0.739 NA 3.6534333 1287 2 58392789 58392789 T C intronic FANCL NA NA NA intronic ENSG00000115392 NA NA NA NA NA 2p16.1 NA NA NA NA rs848288 0.26 0.26 0.216 0.276757 0.3469 0.2887 0.33 0.1104 0.3793 0.34 0.24 0.34 0.09 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021011 NA NA NA NA NA 0.181 NA 3.6531 1287 5 23304772 23304772 T C intergenic CDH12,PRDM9 dist=451041;dist=202952 NA NA ncRNA_exonic ENSG00000250332 NA NA NA NA NA 5p14.2 NA NA NA NA rs10067319 0.42 0.42 0.395 0.508187 0.3469 0.2857 0.3833 0.8313 0.5552 0.33 0.27 0.36 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.096331 NA NA NA NA NA 0.478 NA 3.6531 1287 7 5754906 5754906 C A intronic RNF216 NA NA NA intronic ENSG00000011275 NA NA NA NA NA 7p22.1 NA NA NA NA rs12539336 0.23 0.23 0.2 0.221845 0.3469 0.005 0.3847 0.1732 0.2669 0.35 0.0017 0.41 0.18 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.182584 NA NA NA NA NA 0.275 NA 3.6531 1287 9 77286876 77286876 A C intronic RORB NA NA NA intronic ENSG00000198963 NA NA NA NA NA 9q21.13 NA NA NA NA rs3818559 0.48 0.48 0.468 0.48722 0.3469 0.6696 0.3674 0.6483 0.3108 0.35 0.69 0.32 0.57 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138786 NA NA NA NA NA 0.486 NA 3.6531 1287 18 690436 690436 C T intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA NA NA rs2847614 0.26 0.26 0.253 0.250599 0.3469 0.0933 0.3487 0.2761 0.2096 0.34 0.08 0.33 0.29 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856838 NA NA NA NA NA 0.319 NA 3.6531 1287 19 44977071 44977071 C T intergenic ZNF229,ZNF180 dist=24406;dist=2788 NA NA ncRNA_exonic ENSG00000176761 NA NA NA NA NA 19q13.31 NA NA NA NA rs1897824 0.3 0.3 0.276 0.298323 0.3469 0.0724 0.2406 0.5666 0.1595 0.35 0.08 0.25 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934724 NA NA NA NA NA 0.391 NA 3.6531 1287 20 37620888 37620888 G C intronic DHX35 NA NA NA intronic ENSG00000101452 NA NA NA NA NA 20q12 NA NA NA NA rs4812348 0.35 0.35 0.362 0.354633 0.3469 0.4286 0.3674 0.3101 0.3374 0.36 0.36 0.35 0.35 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830768 NA NA NA NA NA 0.29 NA 3.6531 1287 20 37630606 37630606 A T intronic DHX35 NA NA NA intronic ENSG00000101452 NA NA NA NA NA 20q12 NA NA NA NA rs3764701 0.36 0.36 0.367 0.36262 0.3469 0.4276 0.3718 0.3389 0.3374 0.36 0.36 0.35 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124731 NA NA NA NA NA 0.29 NA 3.6531 1287 22 26173484 26173484 G A intronic MYO18B NA NA NA intronic ENSG00000133454 NA NA NA NA NA 22q12.1 NA NA NA NA rs12170856 0.19 0.19 0.175 0.164337 0.3469 0.0079 0.2709 0.0711 0.1881 0.36 0.01 0.27 0.09 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910057 NA NA NA NA NA 0.167 NA 3.6531 1287 7 38357075 38357075 T C intergenic TARP,LOC100506776 dist=43827;dist=24103 NA NA exonic ENSG00000211695 NA nonsynonymous SNV ENSG00000211695:ENST00000444775:exon1:c.A19G:p.T7A NA NA 7p14.1 NA NA NA NA rs11769443 0.42 0.42 0.419 0.418331 0.3718 0.3403 0.4438 0.5325 0.3742 0.39 0.34 0.4 0.57 0.446 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.93258 NA 0.88 0.362559 0.479187 NA 0.42 NA 3.6529744 1287 3 164724567 164724567 A G intronic SI NA NA NA intronic ENSG00000090402 NA NA NA NA NA 3q26.1 NA NA NA NA rs7618643 0.1 0.1 0.108 0.111621 0.1083 0.0645 0.072 0.1309 0.1656 0.09 0.07 0.09 0.15 0.1183 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331634 NA NA 0.120465 0.136178 NA 0.101 NA 3.652935 1287 3 164714296 164714296 C T intronic SI NA NA NA intronic ENSG00000090402 NA NA NA NA NA 3q26.1 NA NA NA NA rs78437999 0.1 0.1 0.112 0.113618 0.1083 0.0645 0.072 0.1369 0.1677 0.09 0.07 0.09 0.16 0.1183 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478594 NA NA 0.120489 0.149115 NA 0.101 NA 3.652911 1287 12 39705174 39705174 T A intronic KIF21A NA NA NA intronic ENSG00000139116 NA NA NA NA NA 12q12 NA NA NA NA rs952542 0.23 0.23 NA 0.303115 0.1451 0.3849 0.1614 0.3744 0.3855 0.14 0.33 0.16 0.3 0.202 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089 NA NA NA NA NA 0.036 NA 3.6529 1287 2 211473070 211473070 G T intronic CPS1 NA NA NA intronic ENSG00000021826 NA NA NA NA NA 2q34 NA NA NA NA rs2287600 0.14 0.14 0.124 0.136581 0.1133 0.2867 0.1427 0.0219 0.1564 0.11 0.29 0.13 0.02 0.1255 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968123 NA NA 0.108331 0.036087 NA 0.152 NA 3.652869 1287 12 118839867 118839867 G A intronic SUDS3 NA NA NA intronic ENSG00000111707 NA NA NA NA NA 12q24.23 NA NA NA NA rs61943404 0.08 0.08 0.072 0.0650958 0.1819 0.006 0.0793 0.0189 0.0583 0.18 0.01 0.07 0.02 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090803 NA NA 0.165305 0.034682 NA 0.13 NA 3.652795 1287 3 111602828 111602828 G A intronic PHLDB2 NA NA NA UTR5 ENSG00000144824 ENST00000481953:c.-97G>A NA NA NA NA 3q13.2 NA NA NA NA rs6805359 0.53 0.53 0.504 0.542133 0.5139 0.7996 0.5101 0.32 0.6288 0.52 0.79 0.49 0.28 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.107684 NA NA NA NA NA 0.5 NA 3.6527667 1287 2 95614051 95614051 C T upstream LOC442028 NA NA NA upstream ENSG00000259848 NA NA NA NA NA 2q11.1 NA NA NA NA rs148466674 0.01 0.01 0.003 0.00958466 0.0139 NA 0.0231 NA 0.0184 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362588 NA NA NA NA NA NA NA 3.6527666 1287 21 47418234 47418234 G C intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs11700844 0.1 0.1 0.076 0.0754792 0.161 0.0089 0.1527 0.0242 0.0706 0.16 0.01 0.18 0.03 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.225772 NA NA 0.186361 0.052746 NA 0.101 NA 3.652639 1287 19 54722209 54722209 T C intronic LILRB3 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs58414108 0.13 0.13 0.118 0.147764 0.1103 0.002 0.1354 0.3525 0.0685 0.09 0.0035 0.11 0.35 0.1175 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83265 NA NA 0.119651 0.310259 NA 0.051 NA 3.652549 1287 19 9204307 9204307 A G exonic OR1M1 NA synonymous SNV OR1M1:NM_001004456:exon1:c.A387G:p.P129P exonic ENSG00000170929 NA synonymous SNV ENSG00000170929:ENST00000429566:exon1:c.A387G:p.P129P NA NA 19p13.2 NA NA NA NA rs4804097 0.71 0.71 0.737 0.717452 0.6869 0.8899 0.5807 0.6694 0.7331 0.67 0.91 0.57 0.66 0.6769 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678485 NA NA 0.650465 0.650704 NA 0.688 NA 3.6524016 1287 12 111733274 111733274 C T intronic CUX2 NA NA NA intronic ENSG00000111249 NA NA NA NA NA 12q24.12 NA NA NA NA rs2301658 0.37 0.37 0.391 0.365815 0.1849 0.6746 0.1657 0.3828 0.3528 0.19 0.71 0.21 0.39 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716854 NA NA 0.162791 0.383671 NA 0.275 NA 3.652309 1287 17 12916606 12916606 A G intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs74556312 0.05 0.05 0.057 0.0495208 0.1203 0.001 0.0764 0.0053 0.0675 0.11 NA 0.07 0.01 0.1017 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653322 NA NA 0.125698 0.022696 NA 0.058 NA 3.652302 1287 3 133476852 133476852 C T intronic TF NA NA NA intronic ENSG00000091513 NA NA NA NA NA 3q22.1 NA NA NA NA rs3811658 0.33 0.33 0.305 0.321685 0.3479 0.4286 0.3905 0.118 0.411 0.35 0.45 0.35 0.13 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611582 NA NA NA NA NA 0.254 NA 3.6521 1287 6 7516833 7516833 G T intergenic RIOK1,DSP dist=98563;dist=25037 NA NA ncRNA_exonic ENSG00000234115 NA NA NA NA NA 6p24.3 NA NA NA NA rs2798161 0.28 0.28 0.246 0.273163 0.3479 0.1815 0.3588 0.1641 0.3773 0.36 0.21 0.37 0.16 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.200841 NA NA NA NA NA 0.188 NA 3.6521 1287 6 54013765 54013765 A G intronic MLIP NA NA NA intronic ENSG00000146147 NA NA NA NA NA 6p12.1 NA NA NA NA rs2145755 0.45 0.45 0.435 0.447085 0.3479 0.2976 0.4928 0.7352 0.2812 0.34 0.32 0.48 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197651 NA NA NA NA NA 0.413 NA 3.6521 1287 8 6372112 6372112 G A intronic ANGPT2,MCPH1 NA NA NA intronic ENSG00000091879,ENSG00000147316 NA NA NA NA NA 8p23.1 NA NA NA NA rs2916735 0.18 0.18 0.154 0.150958 0.3479 0.0496 0.2118 0.0129 0.1963 0.34 0.05 0.25 0.02 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075643 NA NA NA NA NA 0.159 NA 3.6521 1287 10 100152055 100152055 C G intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs6584191 0.56 0.56 0.541 0.599042 0.3479 0.5843 0.5418 0.8729 0.5429 0.35 0.59 0.51 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230255 NA NA NA NA NA 0.486 NA 3.6521 1287 11 4153407 4153407 C T intronic RRM1 NA NA NA intronic ENSG00000167325 NA NA NA NA NA 11p15.4 NA NA NA NA rs4910890 0.23 0.23 0.209 0.265176 0.3479 0.2946 0.3069 0.0318 0.4356 0.33 0.25 0.26 0.03 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470834 NA NA NA NA NA NA NA 3.6521 1287 11 124677969 124677969 G C intergenic MSANTD2,ROBO3 dist=7670;dist=57336 NA NA ncRNA_exonic ENSG00000254941 NA NA NA NA NA 11q24.2 NA NA NA NA rs580213 0.31 0.31 0.303 0.338059 0.3479 0.3065 0.2176 0.3548 0.4233 0.34 0.28 0.23 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.3519 1.3519 NA NA NA NA 0.225 NA 3.6521 1287 14 78199019 78199019 T A intronic SNW1 NA NA NA intronic ENSG00000100603,ENSG00000119705 NA NA NA NA NA 14q24.3 NA NA NA NA rs12587825 0.37 0.37 0.313 0.358027 0.3479 0.5089 0.5245 0.1097 0.4305 0.36 0.51 0.51 0.11 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181043 NA NA NA NA NA 0.203 NA 3.6521 1287 21 41142775 41142775 A G intronic IGSF5 NA NA NA intronic ENSG00000183067 NA NA NA NA NA 21q22.2 NA NA NA NA rs73217279 0.27 0.27 0.223 0.254593 0.3479 0.2609 0.2104 0.1891 0.272 0.33 0.28 0.24 0.17 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631969 NA NA NA NA ID=COSN166655;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.246 NA 3.6521 1287 2 234839404 234839404 C T intronic TRPM8 NA NA NA intronic ENSG00000144481 NA NA NA NA NA 2q37.1 NA NA NA NA rs4663987 0.2 0.2 0.181 0.233227 0.0895 0.0893 0.1888 0.4864 0.2188 0.09 0.09 0.17 0.49 0.1583 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931142 NA NA 0.100116 0.44916 NA 0.196 NA 3.652084 1287 2 234386018 234386018 A G UTR3 USP40 NM_018218:c.*20T>C NA NA UTR3 ENSG00000085982 ENST00000450966:c.*20T>C,ENST00000251722:c.*20T>C NA NA NA NA 2q37.1 NA NA NA NA rs2971862 0.24 0.24 0.241 0.25639 0.2465 0.1438 0.1542 0.5053 0.1186 0.23 0.12 0.15 0.47 0.2235 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190258 NA NA 0.211681 0.421914 NA 0.225 NA 3.6516524 1287 19 8402642 8402642 C T intronic KANK3 NA NA NA intronic ENSG00000186994 NA NA NA NA NA 19p13.2 NA NA NA NA rs737228 0.12 0.12 0.121 0.128994 0.1163 0.0327 0.1225 0.2383 0.0982 0.11 0.03 0.14 0.22 0.1194 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688707 NA NA 0.112791 0.208125 NA 0.13 NA 3.651509 1287 15 75114374 75114374 C G intronic LMAN1L NA NA NA ncRNA_intronic ENSG00000261606 NA NA NA NA NA 15q24.1 NA NA NA NA rs11072509 0.61 0.61 0.591 0.61262 0.6819 0.631 0.4928 0.5635 0.6738 0.69 0.57 0.56 0.57 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451871 NA NA NA NA NA 0.601 NA 3.6514333 1287 16 30393771 30393771 G A intronic SEPT1,ZNF48 NA NA NA intronic ENSG00000180035,ENSG00000180096,ENSG00000270466 NA NA NA NA NA 16p11.2 NA Name=NFKB,Pol2,YY1_(C-20) NA NA rs4788409 0.78 0.78 0.762 0.772963 0.673 0.9127 0.7767 0.7685 0.7352 0.69 0.91 0.78 0.75 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494852 NA NA 0.675676 0.741329 NA 0.703 NA 3.651324 1287 4 82092967 82092967 C T intronic PRKG2 NA NA NA ncRNA_intronic ENSG00000251059 NA NA NA NA NA 4q21.21 NA NA NA NA rs9992933 0.43 0.43 0.451 0.469848 0.1889 0.5556 0.304 0.7595 0.3967 0.18 0.53 0.33 0.77 0.2906 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887463 NA NA 0.202674 0.646845 NA 0.486 NA 3.6511593 1287 8 59498685 59498685 T G intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs12679938 0.21 0.21 0.192 0.221046 0.3489 0.256 0.1801 0.0514 0.3119 0.33 0.2 0.22 0.06 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567521 NA NA NA NA NA 0.159 NA 3.6511 1287 8 138710637 138710637 C A intergenic NONE,FAM135B dist=NONE;dist=431629 NA NA ncRNA_exonic ENSG00000254076 NA NA NA NA NA 8q24.23 NA NA NA NA rs10481397 0.3 0.3 0.262 0.305112 0.3489 0.3433 0.3516 0.0772 0.4959 0.36 0.36 0.34 0.11 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.755164 NA NA NA NA NA 0.341 NA 3.6511 1287 9 115946500 115946500 A G intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA NA NA rs10817454 0.3 0.3 0.303 0.29972 0.3489 0.1617 0.2997 0.3949 0.2628 0.35 0.18 0.3 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.219349 NA NA NA NA NA 0.297 NA 3.6511 1287 10 5960209 5960209 C T intronic FBXO18 NA NA NA intronic ENSG00000134452 NA NA NA NA NA 10p15.1 NA NA NA NA rs2387092 0.23 0.23 0.238 0.188299 0.3489 0.0317 0.2075 0.2254 0.1207 0.36 0.02 0.27 0.23 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244828 NA NA NA NA NA 0.268 NA 3.6511 1287 11 4153408 4153408 A G intronic RRM1 NA NA NA intronic ENSG00000167325 NA NA NA NA NA 11p15.4 NA NA NA NA rs4910891 0.22 0.22 0.209 0.265575 0.3489 0.2946 0.3069 0.0318 0.4366 0.31 0.24 0.25 0.03 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754828 NA NA NA NA NA NA NA 3.6511 1287 21 38517021 38517021 G A intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs1344047 0.35 0.35 0.349 0.373602 0.3489 0.5228 0.2637 0.202 0.5552 0.34 0.53 0.27 0.21 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570299 NA NA NA NA NA 0.355 NA 3.6511 1287 12 69153071 69153071 C G intronic SLC35E3 NA NA NA intronic ENSG00000175782 NA NA NA NA NA 12q15 NA NA NA NA rs12316701 0.13 0.13 0.114 0.120008 0.1233 0.2123 0.0994 0.0507 0.1299 0.13 0.23 0.1 0.05 0.117 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122045 NA NA 0.108852 0.060336 NA 0.138 NA 3.650848 1287 12 52658039 52658039 C G intergenic KRT7,KRT81 dist=15330;dist=21658 NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA NA NA NA rs150461771 0.01 0.01 0.007 0.00638978 0.0159 NA 0.0058 0.0015 0.0102 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192778 NA NA NA NA NA NA NA 3.6507667 1287 8 22385061 22385061 T C intronic PPP3CC NA NA NA intronic ENSG00000120910 NA NA NA NA NA 8p21.3 NA NA NA NA rs17733133 0.06 0.06 0.061 0.0682907 0.1213 0.003 0.0576 0.0091 0.1687 0.14 0.0017 0.06 0.01 0.1083 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734922 NA NA 0.119651 0.029732 NA 0.043 NA 3.650749 1287 3 124369637 124369637 G A intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs71323878 0.21 0.21 NA 0.190495 0.1272 0.3542 0.2406 0.1362 0.1247 0.13 0.36 0.2 0.15 0.2221 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076304 NA NA NA NA NA 0.246 NA 3.6507 1287 14 22392304 22392304 G A intergenic OR4E2,DAD1 dist=258066;dist=641503 NA NA UTR5 ENSG00000211792 ENST00000390440:c.-10G>A NA NA NA NA 14q11.2 NA Name=c-Fos NA NA rs34365759 0.48 0.48 0.488 0.465655 0.3956 0.504 0.513 0.5091 0.4059 0.41 0.55 0.46 0.51 0.4201 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661856 NA NA 0.367082 0.420207 NA 0.478 NA 3.6505514 1287 6 39046201 39046201 A G intronic GLP1R NA NA NA intronic ENSG00000112164 NA NA NA NA NA 6p21.2 NA NA NA NA rs761387 0.16 0.16 NA 0.153355 0.1193 0.2054 0.232 0.0915 0.1626 0.12 0.22 0.22 0.11 0.1374 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792825 NA NA 0.092791 0.098956 NA 0.145 NA 3.650509 1287 7 107262558 107262558 T A UTR3 BCAP29 NM_018844:c.*3750T>A,NM_001008405:c.*3508T>A NA NA UTR3 ENSG00000075790 ENST00000379119:c.*3508T>A NA NA NA NA 7q22.3 NA NA NA NA rs2894475 0.71 0.71 0.728 0.741414 0.6829 0.6776 0.7061 0.7738 0.8487 0.67 0.7 0.73 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338874 NA NA NA NA NA 0.717 NA 3.6504334 1287 1 149090872 149090872 T C intergenic LOC645166,LOC388692 dist=137818;dist=188604 NA NA ncRNA_intronic ENSG00000179571 NA NA NA NA NA 1q21.2 NA NA NA NA rs6593886 0.52 0.52 0.424 0.522564 0.3499 0.6399 0.5187 0.4569 0.6708 0.42 0.65 0.52 0.53 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713704 NA NA NA NA NA 0.406 NA 3.6501 1287 1 228466750 228466750 T C intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs3795782 0.27 0.27 0.221 0.240615 0.3499 0.1845 0.3573 0.1876 0.1748 0.35 0.17 0.39 0.16 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292989 NA NA NA NA NA 0.268 NA 3.6501 1287 2 171074008 171074008 G C intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA NA NA NA rs6713360 0.31 0.31 0.28 0.300719 0.3499 0.4236 0.5173 0.0295 0.3364 0.34 0.42 0.45 0.05 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225981 NA NA NA NA NA 0.391 NA 3.6501 1287 3 168810980 168810980 C T intronic MECOM NA NA NA intronic ENSG00000085276 NA NA NA NA NA 3q26.2 NA NA NA NA rs12634348 0.32 0.32 0.29 0.33726 0.3499 0.37 0.2421 0.2443 0.4836 0.36 0.35 0.26 0.26 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073257 NA NA NA NA NA 0.268 NA 3.6501 1287 7 2297212 2297212 C T intronic SNX8 NA NA NA intronic ENSG00000106266 NA NA NA NA NA 7p22.3 NA NA NA NA rs62442513 0.12 0.12 0.096 0.121406 0.1829 0.0585 0.1931 0.0212 0.2076 0.18 0.07 0.19 0.03 0.167 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547227 NA NA NA NA NA 0.072 NA 3.6501 1287 11 16872653 16872653 G A intronic PLEKHA7 NA NA NA intronic ENSG00000166689 NA NA NA NA NA 11p15.1 NA NA NA NA rs35098462 0.35 0.35 0.326 0.33127 0.3499 0.5526 0.3329 0.1755 0.2935 0.35 0.53 0.33 0.17 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235616 NA NA NA NA NA 0.268 NA 3.6501 1287 12 120959924 120959924 C T intronic COQ5 NA NA NA intronic ENSG00000110871 NA NA NA NA NA 12q24.31 NA NA NA NA rs1167696 0.28 0.28 0.265 0.258187 0.3499 0.2589 0.3934 0.0598 0.3354 0.36 0.28 0.38 0.07 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410503 NA NA NA NA NA 0.246 NA 3.6501 1287 19 46357313 46357313 T C intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs11670136 0.45 0.45 0.485 0.455072 0.3499 0.5188 0.3761 0.5779 0.3875 0.34 0.56 0.35 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887083 NA NA NA NA NA 0.413 NA 3.6501 1287 20 31016314 31016314 A G intronic ASXL1 NA NA NA intronic ENSG00000171456 NA NA NA NA NA 20q11.21 NA NA NA NA rs3818190 0.42 0.42 0.367 0.405751 0.3499 0.7431 0.4294 0.1649 0.4243 0.36 0.74 0.37 0.17 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.997476 NA NA NA NA NA 0.21 NA 3.6501 1287 6 28500235 28500235 T C intronic GPX5 NA NA NA intronic ENSG00000224586 NA NA NA NA NA 6p22.1 NA NA NA NA rs769189 0.2 0.2 0.185 0.204673 0.0905 0.4226 0.2061 0.0779 0.2679 0.09 0.43 0.21 0.09 0.1628 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141571 NA NA 0.09686 0.073536 ID=COSN167725;OCCURENCE=1(large_intestine) 0.152 NA 3.64984 1287 19 47773647 47773647 C T intronic CCDC9 NA NA NA intronic ENSG00000105321 NA NA NA NA NA 19q13.32 NA NA NA NA rs73061366 0.09 0.09 0.062 0.110623 0.0964 0.0903 0.1902 0.0265 0.2035 0.09 0.08 0.17 0.03 0.1349 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034242 NA NA 0.119302 0.04108 NA 0.174 NA 3.649398 1287 11 102576468 102576468 C A UTR5 MMP27 NM_022122:c.-23G>T NA NA UTR5 ENSG00000137675 ENST00000260229:c.-23G>T NA NA NA NA 11q22.2 NA NA NA NA rs11225389 0.14 0.14 0.131 0.127596 0.2286 0.1141 0.219 0.0076 0.135 0.24 0.1 0.18 0.01 0.2039 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722957 NA NA 0.25157 0.049705 NA 0.043 NA 3.6492634 1287 2 203747522 203747522 A G intronic WDR12 NA NA NA intronic ENSG00000138442 NA NA NA NA NA 2q33.2 NA NA NA NA rs72934751 0.07 0.07 0.066 0.0459265 0.1302 0.0159 0.0735 0.0136 0.0143 0.14 0.02 0.09 0.01 0.0906 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368429 NA NA 0.13006 0.033818 NA 0.036 NA 3.64914 1287 16 2367424 2367424 G A intronic ABCA3 NA NA NA intronic ENSG00000167972 NA NA NA NA NA 16p13.3 NA NA NA NA rs13332547 0.2 0.2 0.157 0.196885 0.0934 0.372 0.3271 0.09 0.1748 0.09 0.35 0.3 0.1 0.159 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605906 NA NA 0.098488 0.105096 NA 0.188 NA 3.649112 1287 2 118716166 118716166 C T intronic CCDC93 NA NA NA intronic ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs1991102 0.32 0.32 0.338 0.342452 0.3509 0.1399 0.2493 0.5643 0.3088 0.35 0.12 0.28 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096498 NA NA NA NA NA 0.42 NA 3.6491 1287 3 184293564 184293564 C T intronic EPHB3 NA NA NA intronic ENSG00000145191,ENSG00000182580 NA NA NA NA NA 3q27.1 NA NA NA NA rs7640497 0.32 0.32 0.321 0.31849 0.3509 0.1647 0.2363 0.5182 0.2321 0.33 0.16 0.27 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.503696 NA NA NA NA NA 0.362 NA 3.6491 1287 4 2982459 2982459 G T intronic GRK4 NA NA NA intronic ENSG00000125388 NA NA NA NA NA 4p16.3 NA NA NA NA rs3021136 0.28 0.28 0.272 0.257588 0.3509 0.0923 0.2968 0.3699 0.1524 0.35 0.1 0.31 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878746 NA NA NA NA NA 0.188 NA 3.6491 1287 4 5843266 5843266 T C intronic CRMP1 NA NA NA intronic ENSG00000072832 NA NA NA NA NA 4p16.2 NA NA NA NA rs2286282 0.37 0.37 0.373 0.352636 0.3509 0.3294 0.268 0.4758 0.272 0.36 0.37 0.28 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62139 NA NA NA NA NA 0.341 NA 3.6491 1287 5 33458833 33458833 T C intronic TARS NA NA NA intronic ENSG00000113407 NA NA NA NA NA 5p13.3 NA NA NA NA rs3765146 0.4 0.4 0.388 0.437101 0.3509 0.4911 0.3847 0.4334 0.5123 0.35 0.52 0.34 0.39 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778666 NA NA NA NA NA 0.478 NA 3.6491 1287 10 50376106 50376106 A C intronic C10orf128 NA NA NA intronic ENSG00000204161 NA NA NA NA NA 10q11.23 NA NA NA NA rs2466756 0.42 0.42 0.418 0.46246 0.3509 0.3919 0.3963 0.6331 0.4663 0.36 0.35 0.33 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670258 NA NA NA NA NA 0.399 NA 3.6491 1287 18 73139335 73139335 C G intronic SMIM21 NA NA NA intronic ENSG00000206026 NA NA NA NA NA 18q23 NA NA NA NA rs7235563 0.26 0.26 0.254 0.223842 0.3509 0.2103 0.2277 0.1097 0.2587 0.35 0.24 0.29 0.11 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655308 NA NA NA NA NA 0.29 NA 3.6491 1287 19 1062370 1062370 T C intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA NA NA NA rs34606911 0.26 0.26 0.237 0.233427 0.3509 0.1121 0.3876 0.1755 0.2065 0.35 0.13 0.36 0.21 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06754 NA NA NA NA NA 0.384 NA 3.6491 1287 19 10077158 10077158 C A intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745582 0.35 0.35 0.363 0.366813 0.3509 0.5347 0.3329 0.1399 0.5409 0.35 0.55 0.34 0.14 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651234 NA NA NA NA NA 0.239 NA 3.6491 1287 19 17088121 17088121 T C intronic CPAMD8 NA NA NA intronic ENSG00000160111 NA NA NA NA NA 19p13.11 NA NA NA NA rs3826728 0.49 0.49 0.515 0.511781 0.3509 0.5625 0.3617 0.7663 0.3875 0.36 0.56 0.38 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169827 NA NA NA NA NA 0.384 NA 3.6491 1287 5 96112284 96112284 A T intronic ERAP1 NA NA NA intronic ENSG00000153113,ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs56213813 0.07 0.07 0.032 0.0595048 0.1372 NA 0.1138 0.0053 0.0757 0.13 NA 0.12 0.01 0.1026 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.182219 NA NA 0.111447 0.017727 NA 0.145 NA 3.648753 1287 16 1259456 1259456 G C intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA NA NA NA rs2745166 0.06 0.06 0.048 0.0894569 0.1153 0.0308 0.062 0.0061 0.2556 0.12 0.01 0.08 0.0041 0.1209 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224049 NA NA 0.115215 0.018408 NA 0.051 NA 3.648585 1287 12 93015506 93015506 G A intergenic CLLU1,C12orf74 dist=190776;dist=81113 NA NA intergenic ENSG00000238865,ENSG00000214215 dist=76743;dist=81113 NA NA Score=289;Name=lod=20 NA 12q22 NA NA NA NA rs10777417 0.74 0.74 0.732 0.710264 0.6849 0.8413 0.7017 0.6188 0.7311 0.71 0.88 0.73 0.65 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184867 NA NA NA NA NA 0.659 NA 3.6484334 1287 3 190342418 190342418 A C intronic IL1RAP NA NA NA ncRNA_exonic ENSG00000231047 NA NA NA NA NA 3q28 NA NA NA NA rs5003916 NA NA 0.05 0.653355 0.6849 0.8115 0.6354 0.4917 0.6892 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339795 NA NA NA NA NA NA NA 3.6484333 1287 1 94568491 94568491 A G intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs4847278 0.34 0.34 0.331 0.340455 0.3519 0.2173 0.2882 0.4811 0.3027 0.36 0.23 0.31 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266875 NA NA NA NA NA 0.246 NA 3.6481 1287 1 200575794 200575794 A G intronic KIF14 NA NA NA intronic ENSG00000118193 NA NA NA NA NA 1q32.1 NA NA NA NA rs2794410 0.3 0.3 0.267 0.288339 0.3519 0.1825 0.3199 0.3442 0.2342 0.35 0.19 0.31 0.32 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148379 NA NA NA NA ID=COSN163385;OCCURENCE=1(breast) 0.391 NA 3.6481 1287 6 41562530 41562530 A G intronic FOXP4 NA NA NA intronic ENSG00000137166 NA NA NA NA NA 6p21.1 NA NA NA NA rs9367109 0.44 0.44 0.444 0.453075 0.3519 0.3125 0.4308 0.7209 0.3558 0.36 0.33 0.4 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819361 NA NA NA NA NA 0.529 NA 3.6481 1287 11 20649448 20649448 G A intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA NA NA 11p15.1 NA NA NA NA rs2276429 0.31 0.31 0.324 0.289537 0.3519 0.3165 0.3112 0.23 0.2628 0.34 0.29 0.32 0.28 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647008 NA NA NA NA NA 0.428 NA 3.6481 1287 12 121018862 121018862 C T intronic POP5 NA NA NA intronic ENSG00000167272 NA NA NA NA NA 12q24.31 NA NA NA NA rs10774559 0.28 0.28 0.259 0.258586 0.3519 0.2579 0.3934 0.0582 0.3384 0.36 0.28 0.38 0.07 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135728 NA NA NA NA NA 0.246 NA 3.6481 1287 14 77772829 77772829 A G intronic POMT2 NA NA NA intronic ENSG00000009830 NA NA NA NA NA 14q24.3 NA NA NA NA rs66502123 0.07 0.07 0.064 0.0794728 0.1282 0.0079 0.0533 0.0219 0.1994 0.14 0.01 0.07 0.03 0.1093 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.59137 2.59137 NA 0.114419 0.035179 NA 0.254 NA 3.648081 1287 8 131226752 131226752 A G intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA NA NA 8q24.21 NA NA NA NA rs2303444 0.11 0.11 0.118 0.13778 0.1233 0.1627 0.0476 0.0522 0.3067 0.12 0.18 0.06 0.04 0.1255 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020521 NA NA 0.10314 0.072207 NA 0.094 NA 3.64806 1287 2 203836507 203836507 G C intronic ALS2CR8 NA NA NA intronic ENSG00000138380 NA NA NA NA NA 2q33.2 NA NA NA NA rs72928608 0.07 0.07 0.062 0.0461262 0.1302 0.0159 0.0749 0.0136 0.0143 0.14 0.02 0.09 0.01 0.0949 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.214136 NA NA 0.126959 0.033279 NA 0.036 NA 3.647941 1287 16 57738740 57738740 A G intronic CCDC135 NA NA NA intronic ENSG00000159625 NA NA NA NA NA 16q21 NA NA NA NA rs7194271 0.23 0.23 NA 0.236222 0.1571 0.2817 0.2594 0.2995 0.1687 0.16 0.27 0.23 0.31 0.1952 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620029 NA NA NA NA NA 0.232 NA 3.6477 1287 13 76383353 76383353 C T intronic LMO7 NA NA NA intronic ENSG00000136153 NA NA NA NA NA 13q22.2 NA NA NA NA rs9530469 0.07 0.07 0.061 0.0720847 0.1372 0.001 0.0821 0.0272 0.1319 0.13 NA 0.1 0.03 0.0954 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.312398 NA NA 0.120144 0.038357 NA 0.094 NA 3.647256 1287 1 155723297 155723297 T C intronic GON4L NA NA NA intronic ENSG00000116580 NA NA NA NA NA 1q22 NA NA NA NA rs6427286 0.57 0.57 0.554 0.552316 0.3529 0.6855 0.3977 0.8116 0.3793 0.36 0.72 0.43 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045317 NA NA NA NA NA 0.587 NA 3.6471 1287 7 137082039 137082039 T C intronic DGKI NA NA NA intronic ENSG00000157680 NA NA NA NA NA 7q33 NA NA NA NA rs2241443 0.25 0.25 0.214 0.249201 0.3529 0.2907 0.3588 0.0477 0.2945 0.34 0.26 0.34 0.05 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087821 NA NA NA NA NA 0.261 NA 3.6471 1287 9 78938256 78938256 C G intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs2259775 0.31 0.31 0.309 0.321286 0.3529 0.1359 0.2378 0.4667 0.3425 0.36 0.13 0.27 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.016584 NA NA NA NA NA 0.283 NA 3.6471 1287 3 56026034 56026034 C T intronic ERC2 NA NA NA intronic ENSG00000187672 NA NA NA NA NA 3p14.3 NA NA NA NA rs4974160 0.27 0.27 0.273 0.213059 0.169 0.3413 0.1657 0.202 0.1748 0.18 0.38 0.21 0.31 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453929 NA NA 0.183905 0.239782 NA 0.232 NA 3.647095 1287 2 28634790 28634790 G A intronic FOSL2 NA NA NA exonic ENSG00000075426 NA synonymous SNV ENSG00000075426:ENST00000379619:exon4:c.G432A:p.P144P NA NA 2p23.2 NA NA NA NA rs12624279 0.28 0.28 0.287 0.294129 0.4056 0.1835 0.2248 0.2141 0.4509 0.41 0.18 0.27 0.19 0.3675 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070048 NA NA 0.413256 0.256695 NA 0.29 NA 3.6469773 1287 12 31555611 31555611 G A intronic DENND5B NA NA NA intronic ENSG00000170456 NA NA NA NA NA 12p11.21 NA NA NA NA rs16918614 0.13 0.13 0.11 0.124601 0.1233 0.248 0.0893 0.0363 0.1431 0.12 0.24 0.1 0.03 0.124 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740002 NA NA 0.105781 0.03874 NA 0.072 NA 3.646919 1287 19 51918901 51918901 G A intronic SIGLEC10 NA NA NA intronic ENSG00000142512 NA NA NA NA NA 19q13.41 NA NA NA NA rs112905231 0.1 0.1 0.087 0.138379 0.1193 0.1032 0.0937 0.2005 0.1421 0.1 0.09 0.1 0.13 0.1183 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745876 NA NA 0.115698 0.178393 NA 0.058 NA 3.646702 1287 9 137998709 137998709 T A intronic OLFM1 NA NA NA intronic ENSG00000130558 NA NA NA NA NA 9q34.3 NA NA NA NA rs35408956 0.08 0.08 0.047 0.0780751 0.1093 0.0367 0.1715 0.0038 0.1227 0.12 0.03 0.16 0.01 0.14 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.807941 1.807941 NA 0.10407 0.02089 NA 0.116 NA 3.64663 1287 17 63534478 63534478 G A intronic AXIN2 NA NA NA intronic ENSG00000168646,ENSG00000266076 NA NA NA NA NA 17q24.1 NA NA NA NA rs35399989 0.15 0.15 0.133 0.164137 0.1243 0.1062 0.0951 0.2617 0.182 0.11 0.1 0.12 0.27 0.1188 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913863 NA NA 0.110349 0.220381 NA 0.101 NA 3.646551 1287 19 51994851 51994851 C G UTR3 SIGLEC12 NM_033329:c.*44G>C,NM_053003:c.*44G>C NA NA UTR3 ENSG00000254521 ENST00000596742:c.*1047G>C,ENST00000291707:c.*44G>C NA NA NA NA 19q13.41 NA NA NA NA rs16982735 0.21 0.21 0.195 0.201478 0.2406 0.1002 0.1715 0.3245 0.1207 0.23 0.09 0.19 0.31 0.2134 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661918 NA NA 0.233023 0.310259 NA 0.268 NA 3.6463104 1287 9 19089375 19089375 A C intronic HAUS6 NA NA NA intronic ENSG00000147874 NA NA NA NA NA 9p22.1 NA NA NA NA rs41269007 0.1 0.1 0.087 0.0964457 0.1014 0.0317 0.1527 0.0983 0.1155 0.11 0.02 0.17 0.11 0.1229 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.227827 4.227827 NA 0.129419 0.107354 NA 0.174 NA 3.646281 1287 19 579699 579699 C T intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA NA NA rs12608994 0.15 0.15 0.151 0.191893 0.1103 0.2292 0.0908 0.2209 0.2699 0.11 0.2 0.11 0.2 0.1424 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643764 NA NA 0.101073 0.176846 NA 0.109 NA 3.646227 1287 11 133801262 133801262 G A intronic IGSF9B NA NA NA intronic ENSG00000080854 NA NA NA NA NA 11q25 NA NA NA NA rs329671 0.28 0.28 0.284 0.249002 0.3539 0.2718 0.2781 0.1036 0.2935 0.36 0.29 0.31 0.13 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208364 NA NA NA NA NA 0.174 NA 3.6461 1287 12 4446116 4446116 T C intronic C12orf5 NA NA NA intronic ENSG00000078237 NA NA NA NA NA 12p13.32 NA NA NA NA rs7296163 0.33 0.33 0.319 0.316494 0.3539 0.3581 0.3818 0.2723 0.2485 0.35 0.32 0.36 0.3 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377887 NA NA NA NA NA 0.29 NA 3.6461 1287 14 23874117 23874117 T C intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs440466 0.32 0.32 0.322 0.324681 0.3539 0.0853 0.2637 0.562 0.2638 0.34 0.07 0.32 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539927 NA NA NA NA NA 0.355 NA 3.6461 1287 15 78271253 78271253 C T intergenic LOC645752,LOC91450 dist=52065;dist=14322 NA NA ncRNA_exonic ENSG00000261143 NA NA NA NA NA 15q24.3 NA NA NA NA rs11632006 0.22 0.22 NA 0.248003 0.3539 0.1369 0.2478 0.2829 0.2065 0.27 0.15 0.24 0.19 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.343151 NA NA NA NA NA NA NA 3.6461 1287 18 6986050 6986050 C A intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs59480422 0.39 0.39 0.344 0.381789 0.3539 0.6677 0.4971 0.0189 0.5245 0.37 0.71 0.41 0.04 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876895 NA NA NA NA NA 0.232 NA 3.6461 1287 21 43325973 43325973 A G intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA NA NA NA rs384749 0.26 0.26 0.295 0.256989 0.1074 0.2728 0.1023 0.5484 0.1104 0.1 0.28 0.1 0.58 0.1461 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011618 NA NA 0.10093 0.48729 NA 0.254 NA 3.64557 1287 12 6859191 6859191 G A intronic MLF2 NA NA NA intronic ENSG00000089693 NA NA NA NA NA 12p13.31 NA NA NA NA rs7969956 0.14 0.14 0.151 0.136382 0.1034 0.121 0.1571 0.2224 0.0552 0.11 0.1 0.12 0.25 0.1191 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.32854 NA NA 0.131977 0.216977 NA 0.174 NA 3.645523 1287 3 44906746 44906746 A G UTR3 TMEM42 NM_144638:c.*74A>G NA NA UTR3 ENSG00000169964 ENST00000302392:c.*74A>G NA NA NA NA 3p21.31 NA NA NA NA rs10429 0.8 0.8 0.78 0.82528 0.6879 1 0.8487 0.711 0.9243 0.7 1 0.85 0.69 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189797 NA NA NA NA NA 0.797 NA 3.6454334 1287 19 19232666 19232666 C T intronic TMEM161A NA NA NA intronic ENSG00000064545 NA NA NA NA NA 19p13.11 NA NA NA NA rs72993474 0.13 0.13 0.139 0.138778 0.1123 0.0367 0.1095 0.2572 0.1319 0.12 0.04 0.12 0.25 0.1236 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281909 NA NA 0.118721 0.237631 NA 0.21 NA 3.645379 1287 17 76481693 76481693 C G exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon47:c.G7422C:p.T2474T exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon47:c.G7380C:p.T2460T,ENSG00000187775:ENST00000585328:exon47:c.G7407C:p.T2469T NA NA 17q25.3 NA NA NA NA rs11872051 0.62 0.62 0.584 0.642372 0.674 0.621 0.7305 0.5378 0.7106 0.66 0.6 0.74 0.5 0.6712 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692425 NA NA 0.676242 0.582791 ID=COSM437662;OCCURENCE=1(breast) 0.594 NA 3.6452246 1287 12 6858971 6858971 C T intronic MLF2 NA NA NA intronic ENSG00000089693 NA NA NA NA NA 12p13.31 NA NA NA NA rs7970575 0.14 0.14 0.167 0.135982 0.1034 0.121 0.1571 0.2224 0.0532 0.11 0.1 0.12 0.25 0.1194 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847765 NA NA 0.131977 0.21675 NA 0.174 NA 3.645223 1287 6 154743525 154743525 T C intronic CNKSR3 NA NA NA intronic ENSG00000153721 NA NA NA NA NA 6q25.2 NA NA NA NA rs7771159 0.27 0.27 0.263 0.261581 0.3549 0.2063 0.2305 0.2897 0.2065 0.33 0.19 0.27 0.28 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290916 NA NA NA NA NA 0.268 NA 3.6451 1287 7 20406542 20406542 A C intronic ITGB8 NA NA NA intronic ENSG00000105855 NA NA NA NA NA 7p21.1 NA NA NA NA rs34556056 0.19 0.19 0.167 0.163339 0.3549 0.001 0.1585 0.1959 0.093 0.35 0.0017 0.17 0.15 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.505033 3.505033 NA NA NA NA 0.094 NA 3.6451 1287 8 142186963 142186963 G A intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA NA 8q24.3 NA NA NA NA rs2241734 0.28 0.28 0.273 0.255192 0.3549 0.3254 0.2305 0.0885 0.3231 0.34 0.35 0.28 0.09 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087 NA NA NA NA NA 0.217 NA 3.6451 1287 11 118012164 118012164 G A intronic SCN4B NA NA NA intronic ENSG00000177098 NA NA NA NA NA 11q23.3 NA NA NA NA rs656445 0.33 0.33 0.306 0.316693 0.3549 0.2788 0.3458 0.3533 0.2464 0.36 0.26 0.4 0.31 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039236 NA NA NA NA NA 0.275 NA 3.6451 1287 12 9353828 9353828 A T intronic PZP NA NA NA intronic ENSG00000126838 NA NA NA NA NA 12p13.31 NA NA NA NA rs3759275 0.34 0.34 0.34 0.348243 0.3549 0.4405 0.2695 0.3026 0.364 0.34 0.43 0.26 0.3 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732715 NA NA NA NA NA 0.283 NA 3.6451 1287 13 25486287 25486287 C T intronic CENPJ NA NA NA intronic ENSG00000151849 NA NA NA NA NA 13q12.12 NA NA NA NA rs2290276 0.33 0.33 0.3 0.321286 0.3549 0.3571 0.4078 0.1626 0.4029 0.37 0.4 0.4 0.14 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309302 NA NA NA NA NA 0.254 NA 3.6451 1287 13 79216418 79216418 A G intronic RNF219 NA NA NA intronic ENSG00000152193 NA NA NA NA NA 13q31.1 NA NA NA NA rs7327732 0.37 0.37 0.367 0.359225 0.3549 0.3333 0.2752 0.4402 0.3405 0.38 0.33 0.28 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386124 NA NA NA NA NA 0.304 NA 3.6451 1287 10 96701601 96701601 G C intronic CYP2C9 NA NA NA intronic ENSG00000138109 NA NA NA NA NA 10q23.33 NA NA NA NA rs9332119 0.07 0.07 0.057 0.0491214 0.1272 0.001 0.1023 0.0091 0.0348 0.13 0.0035 0.13 0.02 0.0944 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455215 NA NA 0.133372 0.027236 NA 0.094 NA 3.645028 1287 19 23869823 23869823 T G intronic ZNF675 NA NA NA intronic ENSG00000197372 NA NA NA NA NA 19p12 NA Name=ELF1_(SC-631),TAF1,GATA-1,Pol2,TCF4,AP-2gamma,TBP,Pol2(b),AP-2alpha,HA-E2F1,Sin3Ak-20,KAP1,Pol2-4H8 Name=47 NA rs2364624 0.64 0.64 0.628 0.624201 0.8191 0.4504 0.5634 0.5991 0.68 0.82 0.47 0.62 0.58 0.7232 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269838 NA NA 0.812674 0.617794 NA 0.659 NA 3.645026 1288 7 150556152 150556152 G A intronic ABP1 NA NA NA intronic ENSG00000002726 NA NA NA NA NA 7q36.1 NA NA NA NA rs11981217 0.11 0.11 0.105 0.11901 0.1153 0.0218 0.085 0.1906 0.1503 0.12 0.01 0.1 0.2 0.1365 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183873 NA NA 0.103296 0.149792 NA 0.203 NA 3.644904 1288 15 42492185 42492185 C A intronic VPS39 NA NA NA intronic ENSG00000166887 NA NA NA NA NA 15q15.1 NA NA NA NA rs2928335 0.27 0.27 NA 0.386981 0.1342 0.1815 0.4914 0.6959 0.3671 0.1 0.15 0.41 0.57 0.2209 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.077989 NA NA NA NA NA 0.239 NA 3.6449 1288 9 5732483 5732483 T C intronic KIAA1432 NA NA NA intronic ENSG00000107036 NA NA NA Score=610;Name=lod=400 NA 9p24.1 NA NA NA NA rs7850299 0.49 0.49 0.464 0.482428 0.4304 0.8363 0.4769 0.1634 0.6063 0.45 0.84 0.49 0.15 0.4862 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.89905 1.89905 NA 0.438953 0.194507 NA 0.406 NA 3.644447 1288 15 42709998 42709998 T C intronic ZNF106 NA NA NA intronic ENSG00000103994 NA NA NA NA NA 15q15.1 NA NA NA NA rs62022300 0.07 0.07 0.064 0.0623003 0.1173 0.006 0.0778 0.0794 0.0297 0.11 NA 0.08 0.08 0.1005 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059258 NA NA 0.137939 0.089877 NA 0.087 NA 3.644261 1288 13 111340042 111340042 A C intronic CARS2 NA NA NA intronic ENSG00000134905 NA NA NA NA NA 13q34 NA NA NA NA rs78646508 0.08 0.08 0.062 0.0615016 0.1312 0.0774 0.0591 0.0136 0.0399 0.12 0.08 0.07 0.02 0.1087 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956414 NA NA 0.115868 0.030186 NA 0.051 NA 3.644232 1288 16 22926257 22926257 C T intronic HS3ST2 NA NA NA intronic ENSG00000122254 NA NA NA NA NA 16p12.2 NA NA NA NA rs62049086 0.07 0.07 0.063 0.0595048 0.1491 0.0198 0.0865 0.0076 0.0593 0.15 0.02 0.09 0.01 0.0882 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017408 NA NA 0.118488 0.025034 NA 0.109 NA 3.644212 1288 10 124325569 124325569 A G intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA Name=CTCF NA NA rs3019516 0.68 0.68 0.643 0.689297 0.6789 0.7758 0.7752 0.5582 0.727 0.69 0.77 0.76 0.52 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059981 NA NA 0.676933 0.57948 NA 0.688 NA 3.644167 1288 1 145533001 145533001 T C intronic ITGA10,NBPF10 NA NA NA intronic ENSG00000143127 NA NA NA NA NA 1q21.1 NA NA NA NA rs35103913 NA NA NA 0.198882 0.3559 0.1607 0.3429 0.0613 0.1605 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.752339 NA NA NA NA NA NA NA 3.6441 1288 1 222715247 222715247 A G intronic HHIPL2 NA NA NA intronic ENSG00000143512 NA NA NA NA NA 1q41 NA NA NA NA rs11487812 0.56 0.56 0.558 0.550519 0.3559 0.6558 0.5965 0.7451 0.3466 0.36 0.67 0.52 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521179 NA NA NA NA NA 0.536 NA 3.6441 1288 6 30864700 30864700 C T intronic DDR1 NA NA NA intronic ENSG00000204580 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264317 0.24 0.24 0.249 0.222843 0.3559 0.251 0.2075 0.0983 0.2362 0.35 0.29 0.2 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113946 NA NA NA NA NA 0.283 NA 3.6441 1288 6 30884806 30884806 A C intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264297 0.24 0.24 0.232 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029337 NA NA NA NA NA 0.283 NA 3.6441 1288 17 38192137 38192137 T G intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA NA NA rs11078935 0.31 0.31 0.293 0.315495 0.3559 0.4226 0.4107 0.0703 0.4274 0.35 0.41 0.41 0.08 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.032274 3.032274 NA NA NA NA 0.362 NA 3.6441 1288 22 32547626 32547626 T C intronic C22orf42 NA NA NA intronic ENSG00000205856 NA NA NA NA NA 22q12.3 NA NA NA NA rs5998254 0.39 0.39 0.397 0.440096 0.3559 0.1458 0.2536 0.8707 0.3804 0.35 0.13 0.28 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841311 NA NA NA NA NA 0.362 NA 3.6441 1288 9 137702059 137702059 G C intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs3811152 0.2 0.2 0.224 0.247204 0.1103 0.1022 0.1282 0.5893 0.1595 0.11 0.11 0.1 0.52 0.1438 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144956 NA NA 0.102209 0.504085 NA 0.275 NA 3.643691 1288 7 100486035 100486035 C A intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=Pol2,HEY1,Pol2-4H8 NA NA rs2720392 0.29 0.29 0.258 0.276558 0.4811 0.125 0.3012 0.1634 0.3579 0.48 0.11 0.35 0.16 0.3881 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.805485 NA NA 0.487326 0.208352 NA 0.246 NA 3.643474 1288 17 1410393 1410393 A C intronic INPP5K NA NA NA intronic ENSG00000132376 NA NA NA NA NA 17p13.3 NA NA NA NA rs34308535 0.12 0.12 0.118 0.103235 0.1163 0.128 0.0807 0.1415 0.0286 0.12 0.12 0.09 0.15 0.1115 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.501258 2.501258 NA 0.12907 0.137829 NA 0.138 NA 3.64313 1288 6 168280925 168280925 A G intronic MLLT4 NA NA NA intronic ENSG00000130396 NA NA NA NA NA 6q27 NA NA NA NA rs2301532 0.39 0.39 0.391 0.383187 0.3569 0.5992 0.3588 0.2042 0.4468 0.37 0.59 0.38 0.22 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249637 NA NA NA NA NA 0.304 NA 3.6431 1288 10 71016947 71016947 C G intronic HKDC1 NA NA NA intronic ENSG00000156510 NA NA NA NA NA 10q22.1 NA NA NA NA rs2279930 0.36 0.36 0.322 0.340655 0.3569 0.5575 0.4986 0.1619 0.2301 0.36 0.5 0.44 0.15 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.757592 1.757592 NA NA NA NA 0.261 NA 3.6431 1288 10 99426975 99426975 C T intronic PI4K2A NA NA NA intronic ENSG00000155252,ENSG00000249967 NA NA NA NA NA 10q24.2 NA NA NA NA rs4254004 0.37 0.37 NA 0.506589 0.3569 0.4712 0.4395 0.6974 0.4867 0.28 0.39 0.36 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017273 NA NA NA NA NA 0.442 NA 3.6431 1288 15 42137773 42137773 G A intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs4924580 0.24 0.24 0.195 0.236022 0.3569 0.1706 0.415 0.0401 0.317 0.37 0.15 0.38 0.05 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91966 NA NA NA NA NA 0.152 NA 3.6431 1288 16 55516767 55516767 G A intronic MMP2 NA NA NA intronic ENSG00000087245 NA NA NA NA NA 16q12.2 NA NA NA NA rs1030868 0.37 0.37 0.336 0.354832 0.3569 0.2391 0.487 0.4395 0.2638 0.39 0.27 0.43 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137208 NA NA NA NA NA 0.348 NA 3.6431 1288 18 21481340 21481340 A G intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs1154227 0.45 0.45 0.429 0.434904 0.3569 0.7619 0.3314 0.2874 0.4509 0.35 0.76 0.33 0.31 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179409 NA NA NA NA NA 0.399 NA 3.6431 1288 19 11106790 11106790 T C intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs11669202 0.32 0.32 0.324 0.332668 0.3569 0.2659 0.2147 0.326 0.4693 0.35 0.26 0.28 0.34 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475058 NA NA NA NA NA 0.254 NA 3.6431 1288 20 31606237 31606237 C T intronic BPIFB2 NA NA NA intronic ENSG00000078898 NA NA NA NA NA 20q11.21 NA NA NA NA rs3746388 0.23 0.23 0.24 0.232428 0.3569 0.1042 0.2089 0.1982 0.2996 0.36 0.09 0.21 0.21 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429455 NA NA NA NA NA 0.355 NA 3.6431 1288 20 31609433 31609433 T C intronic BPIFB2 NA NA NA intronic ENSG00000078898 NA NA NA NA NA 20q11.21 NA NA NA NA rs13043556 0.41 0.41 0.45 0.438498 0.3569 0.2361 0.3703 0.7451 0.365 0.35 0.25 0.37 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652113 NA NA NA NA NA 0.536 NA 3.6431 1288 11 193698 193698 C T intronic LOC653486,SCGB1C1 NA NA NA intronic ENSG00000177951,ENSG00000188076 NA NA NA NA NA 11p15.5 NA NA NA NA rs2294083 0.24 0.24 0.192 NA NA NA NA NA NA 0.16 0.39 0.23 0.19 0.2159 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916495 NA NA 0.141086 0.142389 NA 0.196 NA 3.643014 1288 3 370051 370051 C T intronic CHL1 NA NA NA intronic ENSG00000134121 NA NA NA NA NA 3p26.3 NA NA NA NA rs62227239 0.15 0.15 0.174 0.15615 0.1103 0.0079 0.0865 0.4251 0.0419 0.1 0.01 0.09 0.44 0.122 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291336 NA NA 0.124796 0.376476 NA 0.196 NA 3.642904 1288 15 42710177 42710177 G A intronic ZNF106 NA NA NA intronic ENSG00000103994 NA NA NA NA NA 15q15.1 NA NA NA NA rs17708630 0.06 0.06 0.057 0.0523163 0.1173 0.006 0.0735 0.0439 0.0297 0.11 NA 0.08 0.04 0.1021 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.262614 NA NA 0.137823 0.061507 NA 0.087 NA 3.642777 1288 6 13288578 13288578 G A intronic LOC100130357 NA NA NA ncRNA_intronic ENSG00000215022 NA NA NA NA NA 6p24.1 NA NA NA NA rs202039 0.69 0.69 0.706 0.678914 0.6909 0.4444 0.7522 0.9206 0.5297 0.68 0.46 0.76 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132314 NA NA NA NA NA 0.71 NA 3.6424333 1288 2 220336723 220336723 C T intronic SPEG NA NA NA intronic ENSG00000072195 NA NA NA NA NA 2q35 NA NA NA NA rs73087210 0.16 0.16 0.153 0.175319 0.1143 0.1071 0.1772 0.3056 0.1309 0.12 0.12 0.16 0.26 0.1307 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.890473 1.890473 NA 0.112577 0.25186 NA 0.159 NA 3.642423 1288 1 145597417 145597417 C A intronic NBPF10,POLR3C NA NA NA intronic ENSG00000186141 NA NA NA NA NA 1q21.1 NA NA NA NA rs9728345 0.23 0.23 0.194 0.201078 0.3579 0.1548 0.3343 0.0635 0.1789 0.36 0.13 0.35 0.07 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.665124 2.665124 NA NA NA NA 0.203 NA 3.6421 1288 3 125787126 125787126 C T intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs6438966 0.28 0.28 0.294 0.285144 0.3579 0.1528 0.245 0.3154 0.3344 0.35 0.14 0.28 0.33 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052272 NA NA NA NA NA 0.217 NA 3.6421 1288 4 48173547 48173547 A G intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA NA NA NA rs7669393 0.52 0.52 0.525 0.519369 0.3579 0.8929 0.4928 0.3336 0.5706 0.36 0.92 0.44 0.36 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090176 NA NA NA NA NA 0.449 NA 3.6421 1288 5 77523092 77523092 G A intronic AP3B1 NA NA NA intronic ENSG00000132842 NA NA NA NA NA 5q14.1 NA NA NA NA rs7714159 0.33 0.33 0.31 0.327676 0.3579 0.3244 0.3199 0.3525 0.272 0.34 0.31 0.32 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75017 NA NA NA NA NA 0.37 NA 3.6421 1288 9 95683228 95683228 C G intergenic ZNF484,FGD3 dist=42908;dist=26373 NA NA ncRNA_exonic ENSG00000188101 NA NA NA NA NA 9q22.31 NA NA NA NA rs7047181 0.36 0.36 0.341 0.366613 0.3579 0.122 0.4885 0.5983 0.228 0.34 0.12 0.5 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198604 NA NA NA NA NA 0.399 NA 3.6421 1288 16 29156139 29156139 C T intergenic RRN3P2,SNX29P2 dist=28101;dist=157469 NA NA ncRNA_intronic ENSG00000260517 NA NA NA NA NA 16p11.2 NA NA NA NA rs12924041 0.34 0.34 0.297 0.286342 0.3579 0.4296 0.3746 0.1293 0.2147 0.36 0.47 0.4 0.13 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709084 NA NA NA NA NA 0.355 NA 3.6421 1288 17 38153473 38153473 C T intronic PSMD3 NA NA NA intronic ENSG00000108344 NA NA NA NA NA 17q21.1 NA NA NA NA rs12453334 0.3 0.3 0.299 0.30651 0.3579 0.4256 0.3919 0.0393 0.4315 0.35 0.4 0.38 0.05 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237516 NA NA NA NA NA 0.341 NA 3.6421 1288 12 31242218 31242218 A G intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs4081648 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535418 NA NA NA NA NA NA NA 3.642 1288 19 4660799 4660799 C T intronic C19orf10 NA NA NA intronic ENSG00000074842 NA NA NA NA NA 19p13.3 NA NA NA NA rs2286366 0.25 0.25 0.284 0.272564 0.1083 0.1885 0.0994 0.6604 0.1268 0.11 0.19 0.09 0.64 0.1564 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281169 NA NA 0.093488 0.568089 NA 0.275 NA 3.641812 1288 7 143141475 143141475 T C exonic TAS2R60 NA synonymous SNV TAS2R60:NM_177437:exon1:c.T930C:p.R310R exonic ENSG00000185899 NA synonymous SNV ENSG00000185899:ENST00000332690:exon1:c.T930C:p.R310R NA NA 7q35 NA NA NA NA rs4595035 0.69 0.69 0.651 0.707268 0.66 0.8889 0.7853 0.5061 0.7853 0.65 0.88 0.74 0.51 0.6964 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129413 NA NA 0.668528 0.535422 NA 0.703 NA 3.6417386 1288 10 28345370 28345370 G A intronic MPP7 NA NA NA intronic ENSG00000150054 NA NA NA NA NA 10p12.1 NA NA NA NA rs118187581 0.08 0.08 0.083 0.0640974 0.1441 0.0079 0.0663 0.056 0.0491 0.14 0.01 0.08 0.05 0.0907 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045209 NA NA 0.123721 0.067181 NA 0.145 NA 3.641479 1288 2 237285889 237285889 G A intronic IQCA1 NA NA NA intronic ENSG00000132321 NA NA NA NA NA 2q37.2 NA NA NA NA rs6431458 0.12 0.12 0.095 0.115615 0.171 0.0575 0.2334 0.0628 0.1063 0.18 0.06 0.2 0.05 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576449 NA NA 0.187618 0.064306 NA 0.109 NA 3.641382 1288 1 79095339 79095339 A C intronic IFI44L NA NA NA intronic ENSG00000137959 NA NA NA NA NA 1p31.1 NA NA NA NA rs273256 0.47 0.47 0.488 0.472843 0.3588 0.751 0.3631 0.4516 0.41 0.36 0.77 0.32 0.41 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559024 NA NA NA NA NA 0.601 NA 3.6412 1288 1 145021034 145021034 C A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs674066 NA NA NA 0.269569 0.3588 0.125 0.33 0.2708 0.2822 NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308701 NA NA NA NA NA 0.167 NA 3.6412 1288 3 111962774 111962774 T C intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs13089316 0.33 0.33 0.334 0.313898 0.3588 0.4345 0.3084 0.1399 0.3824 0.36 0.47 0.29 0.15 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.034163 NA NA NA NA NA 0.319 NA 3.6412 1288 3 111988992 111988992 T G intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs13069541 0.33 0.33 0.327 0.313898 0.3588 0.4345 0.3084 0.1399 0.3824 0.36 0.47 0.29 0.15 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.191045 NA NA NA NA NA 0.319 NA 3.6412 1288 9 95683366 95683366 T G intergenic ZNF484,FGD3 dist=43046;dist=26235 NA NA ncRNA_intronic ENSG00000188101 NA NA NA NA NA 9q22.31 NA NA NA NA rs7035868 0.37 0.37 0.349 0.369409 0.3588 0.122 0.4885 0.6074 0.229 0.34 0.12 0.5 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322494 NA NA NA NA NA 0.399 NA 3.6412 1288 10 5165886 5165886 C T intergenic AKR1C3,AKR1CL1 dist=16008;dist=30769 NA NA ncRNA_intronic ENSG00000225418 NA NA NA NA NA 10p15.1 NA NA NA NA rs7069331 0.19 0.19 0.193 0.160144 0.3588 NA 0.1801 0.1278 0.1503 0.35 NA 0.22 0.17 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122016 NA NA NA NA NA 0.109 NA 3.6412 1288 12 124158080 124158080 A G intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA NA NA rs7978447 0.27 0.27 0.271 0.271565 0.3588 0.0565 0.2291 0.3949 0.2669 0.36 0.05 0.25 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228889 NA NA NA NA NA 0.217 NA 3.6412 1288 12 124171658 124171658 C T intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA NA NA rs7309528 0.27 0.27 0.262 0.272165 0.3588 0.0565 0.2291 0.3971 0.2669 0.36 0.05 0.25 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772237 NA NA NA NA NA 0.21 NA 3.6412 1288 12 124181820 124181820 A G intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA NA NA rs7979528 0.27 0.27 0.246 0.272165 0.3588 0.0565 0.2291 0.3971 0.2669 0.36 0.05 0.25 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342205 NA NA NA NA NA 0.217 NA 3.6412 1288 17 16833755 16833755 A G intergenic KRT16P2,TNFRSF13B dist=97608;dist=8643 NA NA ncRNA_intronic ENSG00000128438 NA NA NA NA NA 17p11.2 NA NA NA NA rs3829585 0.51 0.51 0.483 0.521765 0.3588 0.7282 0.5 0.5129 0.5041 0.35 0.71 0.47 0.53 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264424 NA NA NA NA NA 0.42 NA 3.6412 1288 4 27000995 27000995 A G intronic STIM2 NA NA NA intronic ENSG00000109689 NA NA NA NA Name=Obesity-related traits 4p15.2 NA NA NA NA rs6822297 0.31 0.31 0.286 0.299321 0.4732 0.1597 0.3948 0.146 0.4039 0.47 0.16 0.4 0.15 0.4147 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683865 NA NA 0.47093 0.192692 ID=COSN167181;OCCURENCE=1(large_intestine) 0.319 NA 3.64117 1288 1 47607762 47607762 T C intronic CYP4A22 NA NA NA ncRNA_intronic ENSG00000225506 NA NA NA NA NA 1p33 NA NA NA NA rs2056901 0.3 0.3 0.291 0.345048 0.2038 0.5546 0.2363 0.2133 0.5297 0.2 0.55 0.25 0.21 0.2802 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051992 NA NA 0.208488 0.239446 NA 0.217 NA 3.6408453 1288 17 53844847 53844847 C T intronic PCTP NA NA NA intronic ENSG00000141179 NA NA NA NA NA 17q22 NA Name=HNF4A_(H-171),HNF4G_(SC-6558) Name=2 NA rs35430620 0.66 0.66 0.622 0.619609 0.8022 0.8571 0.7017 0.121 0.8027 0.81 0.88 0.73 0.13 0.7549 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719801 NA NA 0.802093 0.251021 NA 0.558 NA 3.640807 1288 2 79255325 79255325 G C intronic REG3G NA NA NA intronic ENSG00000143954 NA NA NA Score=304;Name=lod=23 NA 2p12 NA NA NA NA rs2290079 0.42 0.42 0.387 0.391773 0.4672 0.4623 0.4856 0.2958 0.3047 0.47 0.41 0.45 0.33 0.4329 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910706 NA NA 0.459186 0.330232 NA 0.442 NA 3.640714 1288 1 183192496 183192496 A G intronic LAMC2 NA NA NA intronic ENSG00000058085 NA NA NA NA NA 1q25.3 NA NA NA NA rs3738824 0.13 0.13 0.117 0.113219 0.1034 0.1438 0.1427 0.1074 0.0787 0.11 0.16 0.14 0.12 0.128 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096617 NA NA 0.127907 0.111666 NA 0.094 NA 3.640693 1288 19 7808163 7808163 G C intronic CD209 NA NA NA intronic ENSG00000090659 NA NA NA NA NA 19p13.2 NA NA NA NA rs11465391 0.14 0.14 0.135 0.147165 0.1372 0.0556 0.0749 0.289 0.1115 0.14 0.06 0.08 0.26 0.1188 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949465 NA NA 0.103488 0.229006 NA 0.21 NA 3.640512 1288 3 9727002 9727002 G C intronic MTMR14 NA NA NA intronic ENSG00000163719 NA NA NA NA NA 3p25.3 NA NA NA NA rs787836 0.2 0.2 0.188 0.178115 0.1859 0.377 0.1066 0.059 0.1769 0.19 0.41 0.12 0.06 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787375 NA NA 0.17379 0.068642 NA 0.159 NA 3.64031 1288 13 103286474 103286474 C T intronic TPP2 NA NA NA intronic ENSG00000134900 NA NA NA NA NA 13q33.1 NA NA NA NA rs58545410 0.16 0.16 0.149 0.169529 0.1362 0.1349 0.1081 0.2761 0.1391 0.13 0.13 0.13 0.29 0.1208 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068184 NA NA 0.102791 0.249887 NA 0.159 NA 3.640209 1288 12 124158455 124158455 T C intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA NA NA NA rs7953599 0.27 0.27 0.243 0.271765 0.3598 0.0565 0.2291 0.3949 0.2669 0.36 0.05 0.25 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636405 NA NA NA NA NA 0.217 NA 3.6402 1288 17 41996733 41996733 G T intergenic FAM215A,PPY dist=1378;dist=21439 NA NA ncRNA_intronic ENSG00000267166 NA NA NA NA NA 17q21.31 NA NA NA NA rs231457 0.58 0.58 0.612 0.588259 0.3598 0.8244 0.5836 0.5356 0.6544 0.37 0.87 0.55 0.59 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.353631 NA NA NA NA NA 0.507 NA 3.6402 1288 17 72245629 72245629 A G intronic TTYH2 NA NA NA intronic ENSG00000141540 NA NA NA NA NA 17q25.1 NA NA NA NA rs1870993 0.38 0.38 0.378 0.409145 0.3598 0.1101 0.3156 0.7398 0.3875 0.37 0.12 0.31 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431028 NA NA NA NA NA 0.435 NA 3.6402 1288 22 30034994 30034994 G T intronic NF2 NA NA NA intronic ENSG00000186575 NA NA NA NA NA 22q12.2 NA NA NA NA rs5763378 0.29 0.29 0.276 0.334065 0.3598 0.2123 0.4597 0.2216 0.4959 0.36 0.21 0.39 0.22 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392945 NA NA NA NA NA 0.254 NA 3.6402 1288 13 20025406 20025406 C T intronic TPTE2 NA NA NA intronic ENSG00000132958 NA NA NA NA NA 13q12.11 NA NA NA NA rs2497236 0.13 0.13 0.121 0.120407 0.1272 0.0407 0.1455 0.1929 0.0798 0.11 0.02 0.19 0.23 0.1126 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455977 NA NA 0.120144 0.17567 NA 0.087 NA 3.640056 1288 13 103286280 103286280 T A intronic TPP2 NA NA NA intronic ENSG00000134900 NA NA NA NA NA 13q33.1 NA NA NA NA rs2274461 0.16 0.16 0.165 0.169529 0.1362 0.1349 0.1081 0.2761 0.1391 0.13 0.13 0.13 0.29 0.121 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360303 NA NA 0.102791 0.249887 NA 0.159 NA 3.640009 1288 1 95615888 95615888 T C intronic TMEM56,TMEM56-RWDD3 NA NA NA intronic ENSG00000152078,ENSG00000271092 NA NA NA NA NA 1p21.3 NA NA NA NA rs35206271 0.14 0.14 0.142 0.128594 0.1819 0.0694 0.1571 0.1142 0.1339 0.19 0.08 0.17 0.12 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.650142 NA NA 0.17819 0.117775 NA 0.116 NA 3.63991 1288 12 1038854 1038854 C T intronic RAD52 NA NA NA intronic ENSG00000002016 NA NA NA NA NA 12p13.33 NA NA NA NA rs11571424 0.09 0.09 0.098 0.0926518 0.1252 0.1012 0.0663 0.0333 0.1493 0.13 0.1 0.08 0.04 0.1091 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922599 NA NA 0.125816 0.045662 ID=COSN164108;OCCURENCE=1(NS) 0.174 NA 3.639884 1288 4 960331 960331 C G intronic DGKQ NA NA NA intronic ENSG00000145214 NA NA NA NA NA 4p16.3 NA NA NA NA rs11248059 0.09 0.09 0.084 0.105032 0.1193 0.1181 0.0605 0.0197 0.2239 0.13 0.11 0.05 0.02 0.1268 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060801 NA NA 0.114123 0.026818 NA 0.043 NA 3.639777 1288 17 63533423 63533423 C A intronic AXIN2 NA NA NA intronic ENSG00000168646 NA NA NA NA NA 17q24.1 NA NA NA NA rs7219582 0.15 0.15 0.158 0.174121 0.1252 0.1062 0.0965 0.2965 0.184 0.11 0.1 0.13 0.29 0.1219 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.954238 NA NA 0.113372 0.243759 NA 0.123 NA 3.639528 1288 11 59211265 59211265 T C exonic OR5A1 NA synonymous SNV OR5A1:NM_001004728:exon1:c.T624C:p.T208T exonic ENSG00000172320 NA synonymous SNV ENSG00000172320:ENST00000302030:exon1:c.T624C:p.T208T NA NA 11q12.1 NA NA NA NA rs7941591 0.62 0.62 0.624 0.635383 0.6938 0.7609 0.5836 0.4433 0.7423 0.68 0.73 0.57 0.46 0.66 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.536342 NA NA 0.673458 0.479328 NA 0.652 NA 3.6394086 1288 7 38860933 38860933 A G intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA NA NA 7p14.1 NA NA NA NA rs56002981 0.28 0.28 0.254 0.33726 0.1809 0.4385 0.2983 0.2927 0.4816 0.19 0.44 0.3 0.24 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373093 NA NA 0.179761 0.28685 NA 0.254 NA 3.639339 1288 19 43876994 43876994 T G intergenic CD177,TEX101 dist=9514;dist=15769 NA NA ncRNA_exonic ENSG00000204933 NA NA NA NA NA 19q13.31 NA NA NA NA rs10404822 0.4 0.4 0.318 0.414736 0.3608 0.5704 0.4121 0.2526 0.5307 0.37 0.55 0.38 0.28 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741753 NA 0.27 NA NA NA 0.449 NA 3.6392 1288 19 43877001 43877001 A G intergenic CD177,TEX101 dist=9521;dist=15762 NA NA ncRNA_exonic ENSG00000204933 NA NA NA NA NA 19q13.31 NA NA NA NA rs10403027 0.4 0.4 0.343 0.414736 0.3608 0.5704 0.4121 0.2526 0.5307 0.37 0.56 0.38 0.28 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.47544 NA 0.34 NA NA NA 0.449 NA 3.6392 1288 8 28876221 28876221 T C intronic HMBOX1 NA NA NA intronic ENSG00000147421 NA NA NA NA NA 8p12 NA NA NA NA rs7837237 0.39 0.39 0.423 0.448882 0.3608 0.3403 0.2954 0.6604 0.4744 0.37 0.31 0.31 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469809 NA NA NA NA NA 0.507 NA 3.6392 1288 10 81067480 81067480 C G intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1972346 0.3 0.3 0.291 0.283347 0.3608 0.4236 0.2795 0.0219 0.4151 0.35 0.49 0.3 0.03 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635674 NA NA NA NA NA 0.312 NA 3.6392 1288 11 62064841 62064841 T C intronic SCGB1D4 NA NA NA intronic ENSG00000197745 NA NA NA NA NA 11q12.3 NA NA NA NA rs4477443 0.28 0.28 0.25 0.281749 0.3608 0.3423 0.2853 0.0787 0.41 0.35 0.33 0.3 0.1 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338498 NA NA NA NA NA 0.319 NA 3.6392 1288 11 62064844 62064844 G C intronic SCGB1D4 NA NA NA intronic ENSG00000197745 NA NA NA NA NA 11q12.3 NA NA NA NA rs4280004 0.28 0.28 0.249 0.281749 0.3608 0.3423 0.2853 0.0787 0.41 0.35 0.33 0.3 0.1 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436416 NA NA NA NA NA 0.319 NA 3.6392 1288 12 1983744 1983744 T C intronic CACNA2D4 NA NA NA intronic ENSG00000151062 NA NA NA NA NA 12p13.33 NA NA NA NA rs737102 0.19 0.19 0.207 0.221446 0.1143 0.0456 0.0893 0.5348 0.183 0.11 0.06 0.11 0.52 0.1395 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374013 NA NA 0.107048 0.433217 NA 0.152 NA 3.639152 1288 2 43805608 43805608 C G intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA NA NA 2p21 NA NA NA NA rs6759861 0.1 0.1 0.105 0.1248 0.1064 0.0069 0.0764 0.2322 0.1544 0.11 0.01 0.09 0.22 0.1207 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613188 NA NA 0.134093 0.192245 NA 0.109 NA 3.638807 1288 13 23853468 23853468 A G intronic SGCG NA NA NA intronic ENSG00000102683 NA NA NA NA NA 13q12.12 NA NA NA NA rs66844808 0.07 0.07 0.069 0.0628994 0.1382 NA 0.1023 0.0552 0.0327 0.12 NA 0.09 0.07 0.0964 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365034 1.365034 NA 0.12686 0.088062 NA 0.181 NA 3.63854 1288 8 119945166 119945166 G A intronic TNFRSF11B NA NA NA intronic ENSG00000164761 NA NA NA NA NA 8q24.12 NA NA NA NA rs1564858 0.07 0.07 0.068 0.0788738 0.1213 0.0069 0.0663 0.0461 0.1626 0.13 0.0017 0.08 0.05 0.1096 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.856362 NA NA 0.130698 0.056514 NA 0.116 NA 3.638402 1288 3 184297129 184297129 T C intronic EPHB3 NA NA NA intronic ENSG00000145191,ENSG00000182580 NA NA NA NA NA 3q27.1 NA NA NA NA rs6771138 0.33 0.33 0.355 0.336262 0.3618 0.1687 0.2565 0.5484 0.2526 0.34 0.17 0.3 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282042 NA NA NA NA NA 0.37 NA 3.6382 1288 4 55971846 55971846 G T intronic KDR NA NA NA intronic ENSG00000128052 NA NA NA NA NA 4q12 NA NA NA NA rs2305945 0.37 0.37 0.312 0.343251 0.3618 0.3135 0.5159 0.2935 0.2996 0.38 0.34 0.54 0.29 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869621 NA NA NA NA NA 0.377 NA 3.6382 1288 7 138188932 138188932 A G intronic TRIM24 NA NA NA intronic ENSG00000122779 NA NA NA NA NA 7q33 NA NA NA NA rs10488642 0.28 0.28 0.275 0.248802 0.3618 0.001 0.2637 0.4304 0.1319 0.37 NA 0.31 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.528368 NA NA NA NA NA 0.283 NA 3.6382 1288 10 124389296 124389296 C G intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs3013177 0.57 0.57 0.588 0.61901 0.3618 0.6736 0.4669 0.8691 0.5971 0.35 0.66 0.47 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336792 NA NA NA NA NA 0.652 NA 3.6382 1288 16 19883082 19883082 A G intronic GPRC5B NA NA NA intronic ENSG00000167191 NA NA NA NA NA 16p12.3 NA NA NA NA rs172907 0.37 0.37 0.376 0.32488 0.3618 0.3323 0.2738 0.4561 0.138 0.36 0.34 0.28 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918239 NA NA NA NA NA 0.493 NA 3.6382 1288 16 32823536 32823536 A G intergenic TP53TG3,SLC6A10P dist=136088;dist=65261 NA NA ncRNA_intronic ENSG00000260158 NA NA NA NA NA 16p11.2 NA NA NA NA rs79574195 NA NA 0.285 0.405751 0.3618 0.3562 0.2608 0.5174 0.454 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056698 NA NA NA NA NA 0.029 NA 3.6382 1288 17 26096473 26096473 C A intronic NOS2 NA NA NA intronic ENSG00000007171 NA NA NA NA NA 17q11.2 NA NA NA NA rs9282801 0.29 0.29 0.273 0.291933 0.3618 0.1935 0.2723 0.2769 0.3558 0.36 0.17 0.32 0.3 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335652 NA NA NA NA NA 0.348 NA 3.6382 1288 22 42190309 42190309 A G intronic MEI1 NA NA NA intronic ENSG00000167077 NA NA NA NA NA 22q13.2 NA NA NA NA rs738247 0.29 0.29 0.29 0.280551 0.3618 0.2589 0.2205 0.2057 0.363 0.37 0.28 0.24 0.22 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459577 NA NA NA NA NA 0.239 NA 3.6382 1288 13 113839747 113839747 C T intronic PCID2 NA NA NA intronic ENSG00000126226 NA NA NA NA NA 13q34 NA NA NA NA rs515863 0.1 0.1 0.089 0.111422 0.1819 0.003 0.1167 0.0628 0.2127 0.17 0.0035 0.14 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42168 NA NA 0.179927 0.080995 NA 0.174 NA 3.638173 1288 21 10920041 10920041 C T intronic TPTE NA NA NA intronic ENSG00000166157 NA NA NA NA NA 21p11.1 NA NA NA NA rs4913553 0.35 0.35 0.278 NA NA NA NA NA NA 0.32 0.38 0.37 0.36 0.3619 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059857 NA NA NA NA NA 0.123 NA 3.6381 1288 3 53910118 53910118 A G intronic ACTR8 NA NA NA intronic ENSG00000113812 NA NA NA NA NA 3p21.1 NA NA NA NA rs744277 NA NA NA 0.00778754 0.001 NA 0.0058 0.0204 0.0072 NA NA NA NA 0.3615 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008264 NA NA NA NA NA 0.399 NA 3.6375 1288 2 136546110 136546110 A G exonic LCT NA synonymous SNV LCT:NM_002299:exon17:c.T5568C:p.A1856A exonic ENSG00000115850 NA synonymous SNV ENSG00000115850:ENST00000264162:exon17:c.T5568C:p.A1856A NA NA 2q21.3 NA NA NA NA rs2278544 0.49 0.49 0.465 0.441494 0.6561 0.4395 0.4784 0.2912 0.3998 0.67 0.45 0.51 0.25 0.6215 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321075 NA NA 0.75186 0.393554 NA 0.536 NA 3.6372066 1288 1 10435170 10435170 T C intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs11121551 0.36 0.36 0.343 0.341054 0.3628 0.3472 0.3833 0.3351 0.2904 0.36 0.37 0.4 0.34 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172617 NA NA NA NA ID=COSN162932;OCCURENCE=1(NS) 0.319 NA 3.6372 1288 2 98353847 98353847 C T intronic ZAP70 NA NA NA intronic ENSG00000115085 NA NA NA NA NA 2q11.2 NA NA NA NA rs11686881 0.23 0.23 0.158 0.182708 0.3628 0.0972 0.3285 0.0862 0.1125 0.38 0.1 0.34 0.08 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.045216 NA NA NA NA NA 0.188 NA 3.6372 1288 3 195953775 195953775 C T intronic SLC51A NA NA NA intronic ENSG00000161217,ENSG00000163959 NA NA NA NA NA 3q29 NA NA NA NA rs68119320 0.47 0.47 0.451 0.462859 0.3628 0.8552 0.428 0.1891 0.5562 0.36 0.86 0.44 0.19 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043881 NA NA NA NA NA 0.362 NA 3.6372 1288 8 121353692 121353692 A T intronic COL14A1 NA NA NA intronic ENSG00000187955 NA NA NA NA NA 8q24.12 NA NA NA NA rs1563392 0.48 0.48 0.491 0.483027 0.3628 0.4385 0.4337 0.6732 0.4305 0.35 0.47 0.42 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037837 NA NA NA NA NA 0.449 NA 3.6372 1288 12 52712813 52712813 A G intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs998821 0.33 0.33 0.342 0.349241 0.3628 0.1677 0.2493 0.5076 0.3793 0.36 0.16 0.29 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541911 NA NA NA NA NA 0.428 NA 3.6372 1288 12 52864756 52864756 C G intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA NA NA NA rs613760 0.35 0.35 0.316 0.286741 0.3628 0.4821 0.281 0.152 0.1933 0.36 0.56 0.33 0.1 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610023 NA NA NA NA NA 0.326 NA 3.6372 1288 12 52864843 52864843 G A intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA NA NA NA rs604303 0.33 0.33 0.273 0.249401 0.3628 0.4772 0.2651 0.0242 0.1912 0.36 0.56 0.32 0.04 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.041345 NA NA NA NA NA 0.065 NA 3.6372 1288 15 84958078 84958078 C T intergenic GOLGA6L4,DNM1P41 dist=43958;dist=87728 NA NA ncRNA_exonic ENSG00000235370 NA NA NA NA NA 15q25.2 NA NA NA NA rs8034390 0.56 0.56 0.551 0.586861 0.3628 0.6508 0.572 0.7844 0.4949 0.36 0.65 0.52 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679195 NA NA NA NA NA 0.493 NA 3.6372 1288 16 33413939 33413939 T G intergenic LOC390705,RNU6-76P dist=115237;dist=49568 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs7201913 NA NA 0.613 0.433706 0.3628 0.4018 0.3256 0.5484 0.4611 NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084748 NA NA NA NA NA 0.21 NA 3.6372 1288 19 18709768 18709768 G A intronic CRLF1 NA NA NA intronic ENSG00000006016 NA NA NA NA NA 19p13.11 NA NA NA NA rs8108207 0.36 0.36 0.38 0.36242 0.3628 0.0962 0.2118 0.7345 0.2403 0.36 0.08 0.25 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627916 NA NA NA NA NA 0.391 NA 3.6372 1288 19 38090759 38090759 C G intronic ZNF540 NA NA NA intronic ENSG00000171817 NA NA NA NA NA 19q13.12 NA NA NA NA rs17305228 0.2 0.2 0.196 0.185104 0.3628 0.0288 0.2651 0.1021 0.2188 0.37 0.04 0.26 0.09 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442848 NA NA NA NA NA 0.319 NA 3.6372 1288 8 119938725 119938725 T G intronic TNFRSF11B NA NA NA intronic ENSG00000164761 NA NA NA NA NA 8q24.12 NA NA NA NA rs7844539 0.07 0.07 0.067 0.0780751 0.1223 0.0069 0.0648 0.0446 0.1605 0.13 0.0017 0.07 0.04 0.1087 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148878 NA NA 0.132356 0.054925 NA 0.116 NA 3.636644 1288 11 102573451 102573451 T C intronic MMP27 NA NA NA intronic ENSG00000137675 NA NA NA NA NA 11q22.2 NA NA NA NA rs3809017 0.19 0.19 0.197 0.216454 0.1054 0.2252 0.1556 0.3449 0.1912 0.1 0.22 0.16 0.33 0.1519 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298145 NA NA 0.106071 0.300953 NA 0.196 NA 3.636629 1288 6 129937456 129937456 A G intronic ARHGAP18 NA NA NA intronic ENSG00000146376 NA NA NA NA NA 6q22.33 NA NA NA NA rs12524078 0.07 0.07 0.051 0.0521166 0.1481 NA 0.1052 0.0045 0.0337 0.14 NA 0.12 0.02 0.1101 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186535 NA NA 0.105465 0.020881 NA 0.072 NA 3.636335 1288 1 1647928 1647928 A G intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs1883424 0.27 0.27 0.272 0.347444 0.3986 0.5357 0.4366 0.0545 0.4335 0.31 0.38 0.33 0.05 0.2984 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499961 NA NA NA NA NA 0.254 NA 3.6363333 1288 1 201016646 201016646 C T intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs2297905 0.17 0.17 0.181 0.171925 0.1034 0.1141 0.0951 0.3971 0.0521 0.11 0.12 0.1 0.38 0.1345 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223362 NA NA 0.125814 0.360191 NA 0.196 NA 3.636286 1288 3 75419736 75419736 T G intergenic MIR4444-1,FAM86DP dist=156037;dist=50967 NA NA ncRNA_exonic ENSG00000230655 NA NA NA NA NA 3p12.3 NA NA NA NA rs2091866 0.25 0.25 0.235 0.251198 0.3638 0.0764 0.3631 0.239 0.2526 0.37 0.05 0.34 0.23 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149974 NA NA NA NA NA 0.254 NA 3.6362 1288 7 138200210 138200210 T C intronic TRIM24 NA NA NA intronic ENSG00000122779 NA NA NA NA NA 7q34 NA NA NA NA rs68115887 0.29 0.29 0.318 0.249601 0.3638 0.001 0.2608 0.4327 0.1329 0.37 NA 0.31 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102045 NA NA NA NA NA 0.297 NA 3.6362 1288 8 59499237 59499237 G A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs3816846 0.25 0.25 0.247 0.256989 0.3638 0.3204 0.1844 0.0885 0.3609 0.34 0.27 0.23 0.1 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3062 NA NA NA NA NA 0.174 NA 3.6362 1288 19 54849566 54849566 T C intronic LILRA4 NA NA NA intronic ENSG00000239961 NA NA NA NA NA 19q13.42 NA NA NA NA rs2241385 0.36 0.36 0.37 0.405152 0.3638 0.2639 0.4323 0.5045 0.4397 0.35 0.26 0.41 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14432 NA NA NA NA NA 0.399 NA 3.6362 1288 11 77583376 77583376 G A UTR3 AAMDC NM_024684:c.*15G>A NA NA UTR3 ENSG00000087884 ENST00000526415:c.*15G>A,ENST00000393427:c.*15G>A,ENST00000525409:c.*15G>A,ENST00000533193:c.*15G>A,ENST00000525034:c.*15G>A NA NA NA NA 11q14.1 NA NA NA NA rs588217 0.18 0.18 0.161 0.186701 0.2425 0.0913 0.17 0.2012 0.2198 0.23 0.1 0.2 0.17 0.2173 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707238 NA NA 0.237418 0.213864 NA 0.239 NA 3.6361154 1288 5 149459574 149459574 C T intronic CSF1R NA NA NA intronic ENSG00000182578 NA NA NA NA NA 5q32 NA NA NA NA rs13188584 0.12 0.12 0.126 0.122804 0.1233 0.1409 0.098 0.1089 0.1401 0.12 0.11 0.1 0.13 0.1204 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494715 NA NA 0.120349 0.118929 NA 0.174 NA 3.635951 1288 20 6093116 6093116 A G intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs41308641 0.07 0.07 0.062 0.0621006 0.1392 0.002 0.1268 0.0076 0.0726 0.14 NA 0.14 0.01 0.0956 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668941 NA NA 0.129302 0.030413 NA 0.072 NA 3.635898 1288 6 32798350 32798350 A C intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA NA NA NA rs9380327 0.1 0.1 0.072 0.0894569 0.1262 0.0962 0.1095 0.0567 0.0746 0.12 0.1 0.12 0.05 0.1127 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592806 NA NA 0.125416 0.077483 NA 0.065 NA 3.635684 1288 6 13288737 13288737 T A intronic LOC100130357 NA NA NA ncRNA_intronic ENSG00000215022 NA NA NA NA NA 6p24.1 NA NA NA NA rs202036 0.69 0.69 0.715 0.681909 0.6978 0.4444 0.7579 0.9213 0.5327 0.69 0.46 0.76 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472692 NA NA NA NA NA 0.71 NA 3.6355333 1288 9 117086271 117086271 T G intronic ORM1 NA NA NA intronic ENSG00000229314 NA NA NA NA NA 9q32 NA NA NA NA rs10982151 0.07 0.07 0.055 0.0559105 0.1282 0.002 0.1585 0.0045 0.0337 0.12 0.0017 0.15 0.01 0.1075 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085188 NA NA 0.128837 0.033137 NA 0.058 NA 3.635463 1288 3 100523771 100523771 A C intronic ABI3BP NA NA NA intronic ENSG00000154175 NA NA NA NA NA 3q12.2 NA NA NA NA rs10511184 0.1 0.1 0.077 0.114417 0.166 0.0506 0.098 0.0106 0.2791 0.17 0.05 0.11 0.02 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691746 NA NA 0.198742 0.03396 NA 0.109 NA 3.635258 1288 19 8167590 8167590 T C intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs62126077 0.15 0.15 0.11 0.130192 0.1044 0.248 0.2579 0.0136 0.1022 0.11 0.26 0.22 0.02 0.1341 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975948 NA NA 0.126279 0.03291 NA 0.058 NA 3.635221 1288 1 201824390 201824390 G A intronic IPO9 NA NA NA intronic ENSG00000198700 NA NA NA NA NA 1q32.1 NA NA NA NA rs11576508 0.32 0.32 0.293 0.297324 0.3648 0.4177 0.3919 0.1384 0.2515 0.37 0.38 0.38 0.13 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171685 NA NA NA NA NA 0.341 NA 3.6352 1288 2 3428508 3428508 T G intronic TRAPPC12 NA NA NA intronic ENSG00000171853 NA NA NA NA NA 2p25.3 NA NA NA NA rs10166880 0.25 0.25 0.241 0.228435 0.3648 0.0764 0.2867 0.2542 0.1687 0.35 0.07 0.34 0.24 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750288 NA NA NA NA NA 0.225 NA 3.6352 1288 2 171056569 171056569 T A intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA NA NA NA rs6756347 0.32 0.32 0.349 0.342652 0.3648 0.1498 0.2421 0.5234 0.3456 0.37 0.15 0.27 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.501738 1.501738 NA NA NA NA 0.312 NA 3.6352 1288 4 39318706 39318706 A G intronic RFC1 NA NA NA intronic ENSG00000035928 NA NA NA NA NA 4p14 NA NA NA NA rs2066790 0.28 0.28 0.273 0.28115 0.3648 0.1776 0.2565 0.3064 0.2853 0.35 0.18 0.24 0.31 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.226047 NA NA NA NA NA 0.261 NA 3.6352 1288 6 168947956 168947956 G C intronic SMOC2 NA NA NA intronic ENSG00000112562 NA NA NA NA NA 6q27 NA NA NA NA rs10806685 0.39 0.39 0.367 0.355032 0.3648 0.6944 0.4337 0.0817 0.3088 0.37 0.65 0.42 0.09 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468051 NA NA NA NA NA 0.413 NA 3.6352 1288 7 64291622 64291622 C T intronic ZNF138 NA NA NA intronic ENSG00000197008 NA NA NA NA NA 7q11.21 NA NA NA NA rs1880656 0.26 0.26 0.223 0.238818 0.3648 0.1617 0.3314 0.1165 0.2883 0.35 0.18 0.35 0.12 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643937 NA NA NA NA ID=COSN168096;OCCURENCE=1(large_intestine) 0.362 NA 3.6352 1288 8 95782864 95782864 A G intronic DPY19L4 NA NA NA intronic ENSG00000156162 NA NA NA NA NA 8q22.1 NA NA NA NA rs13250360 0.41 0.41 0.376 0.430911 0.3648 0.2183 0.3876 0.7882 0.2658 0.35 0.22 0.37 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713604 NA NA NA NA NA 0.355 NA 3.6352 1288 10 95346879 95346879 C G intronic FFAR4 NA NA NA intronic ENSG00000186188 NA NA NA NA NA 10q23.33 NA NA NA NA rs11187538 0.32 0.32 0.316 0.337859 0.3648 0.1052 0.255 0.4864 0.408 0.36 0.1 0.28 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457545 NA NA NA NA NA 0.522 NA 3.6352 1288 11 89372524 89372524 T C intergenic NOX4,FOLH1B dist=49745;dist=19941 NA NA ncRNA_intronic ENSG00000134612 NA NA NA NA NA 11q14.3 NA NA NA NA rs7945304 0.24 0.24 0.193 0.215056 0.3648 0.0873 0.2277 0.1513 0.2699 0.37 0.09 0.28 0.17 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787526 NA NA NA NA NA 0.239 NA 3.6352 1288 12 52865592 52865592 A T intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA NA NA NA rs644414 NA NA 0.174 0.250799 0.3648 0.4812 0.2651 0.025 0.1912 NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683865 NA NA NA NA NA 0.152 NA 3.6352 1288 13 28136989 28136989 A G intronic LNX2 NA NA NA intronic ENSG00000139517 NA NA NA NA NA 13q12.2 NA NA NA NA rs11838661 0.28 0.28 0.289 0.282149 0.3648 0.0813 0.2363 0.3896 0.2914 0.36 0.07 0.27 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.909471 NA NA NA NA NA 0.232 NA 3.6352 1288 11 118898319 118898319 G A intronic SLC37A4 NA NA NA intronic ENSG00000137700 NA NA NA NA NA 11q23.3 NA NA NA NA rs741811 0.09 0.09 0.071 0.077476 0.1282 0.0159 0.1297 0.059 0.0767 0.13 0.01 0.14 0.07 0.1057 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.528184 NA NA 0.130989 0.0848 NA 0.116 NA 3.635111 1289 3 185135448 185135448 G A intronic MAP3K13 NA NA NA ncRNA_exonic ENSG00000229638 NA NA NA NA NA 3q27.2 NA NA NA NA rs13099317 0.56 0.56 0.541 0.504393 0.6988 0.4593 0.5778 0.3714 0.4785 0.68 0.52 0.6 0.4 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687507 1.687507 NA NA NA NA 0.457 NA 3.6345333 1289 1 228412106 228412106 T C intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs1771482 0.42 0.42 0.395 0.412141 0.3658 0.3839 0.402 0.5885 0.2577 0.37 0.37 0.43 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148049 NA NA NA NA NA 0.464 NA 3.6342 1289 3 124165217 124165217 G A intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs624450 0.37 0.37 0.319 0.392173 0.3658 0.3125 0.3141 0.5 0.411 0.35 0.29 0.33 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196315 NA NA NA NA NA 0.413 NA 3.6342 1289 5 178989473 178989473 T G intronic RUFY1 NA NA NA intronic ENSG00000176783 NA NA NA NA NA 5q35.3 NA NA NA NA rs28510162 0.48 0.48 0.452 0.48143 0.3658 0.7312 0.5058 0.3722 0.4734 0.35 0.74 0.49 0.39 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.775404 NA NA NA NA NA 0.406 NA 3.6342 1289 7 64275851 64275851 C T intronic ZNF138 NA NA NA intronic ENSG00000197008 NA NA NA NA NA 7q11.21 NA NA NA NA rs55683815 0.24 0.24 0.203 0.21845 0.3658 0.1587 0.3213 0.0446 0.2904 0.35 0.18 0.34 0.04 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318195 NA NA NA NA ID=COSN168095;OCCURENCE=1(large_intestine) 0.304 NA 3.6342 1289 8 141310486 141310486 A G intronic TRAPPC9 NA NA NA intronic ENSG00000167632 NA NA NA NA NA 8q24.3 NA NA NA NA rs12156047 0.26 0.26 0.238 0.223442 0.3658 0.0109 0.2536 0.3011 0.1697 0.38 0.02 0.28 0.33 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014198 NA NA NA NA NA 0.261 NA 3.6342 1289 9 96425363 96425363 G A intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA NA NA 9q22.31 NA NA NA NA rs3750359 0.26 0.26 0.236 0.198283 0.3658 0.2917 0.268 0.0174 0.1247 0.37 0.3 0.28 0.03 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78984 NA NA NA NA NA 0.283 NA 3.6342 1289 11 118942638 118942638 A C intronic VPS11 NA NA NA intronic ENSG00000160695 NA NA NA NA NA 11q23.3 NA NA NA NA rs1614264 0.4 0.4 0.415 0.438898 0.3658 0.2262 0.3746 0.7057 0.4182 0.35 0.2 0.41 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.243117 1.243117 NA NA NA NA 0.493 NA 3.6342 1289 16 84485423 84485423 G A intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs247886 0.35 0.35 0.324 0.351837 0.3658 0.2778 0.2767 0.466 0.3129 0.38 0.26 0.31 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.246033 NA NA NA NA NA 0.326 NA 3.6342 1289 19 23413937 23413937 A G ncRNA_intronic ZNF724P NA NA NA UTR3 ENSG00000196081 ENST00000597037:c.*123T>C NA NA NA NA 19p12 NA NA NA NA rs7256859 0.86 0.86 0.833 0.872204 0.8658 0.876 0.8646 0.8207 0.9499 0.87 0.88 0.86 0.81 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484355 NA NA NA NA NA 0.841 NA 3.6342 1289 10 129681917 129681917 A C intronic CLRN3 NA NA NA intronic ENSG00000180745 NA NA NA NA NA 10q26.2 NA NA NA NA rs72845049 0.06 0.06 0.054 0.0435304 0.1252 NA 0.0735 0.0076 0.0317 0.11 NA 0.09 0.01 0.0992 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228595 NA NA 0.141512 0.022696 NA 0.072 NA 3.634088 1289 21 10920067 10920067 T C intronic TPTE NA NA NA intronic ENSG00000166157 NA NA NA NA NA 21p11.1 NA NA NA NA rs4913681 0.36 0.36 0.275 NA NA NA NA NA NA 0.32 0.38 0.38 0.38 0.366 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552569 NA NA NA NA NA 0.275 NA 3.634 1289 3 97851475 97851475 G C upstream OR5H1 NA NA NA ncRNA_intronic ENSG00000249225 NA NA NA NA NA 3q11.2 NA NA NA NA rs4857328 0.62 0.62 0.637 0.624201 0.5328 0.5228 0.585 0.8366 0.5634 0.54 0.58 0.54 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110508 NA NA NA NA NA 0.565 NA 3.6338666 1289 16 88779865 88779865 G A intronic CTU2 NA NA NA intronic ENSG00000174177 NA NA NA NA NA 16q24.3 NA NA NA NA rs4782320 0.07 0.07 0.076 0.0427316 0.1302 NA 0.0375 0.0348 0.0112 0.15 NA 0.04 0.05 0.0995 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750304 NA NA 0.136438 0.043607 NA 0.036 NA 3.633862 1289 1 200969766 200969766 G A intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs6692235 0.17 0.17 0.165 0.177316 0.1024 0.1022 0.0793 0.4327 0.0562 0.1 0.1 0.08 0.39 0.1367 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687958 NA NA 0.127093 0.393733 NA 0.174 NA 3.633807 1289 7 45223018 45223018 C G UTR3 RAMP3 NM_005856:c.*7C>G NA NA UTR3 ENSG00000122679 ENST00000242249:c.*7C>G,ENST00000481345:c.*7C>G NA NA NA NA 7p13 NA NA NA NA rs11982639 0.25 0.25 0.286 0.273363 0.2366 0.12 0.1888 0.4584 0.2791 0.22 0.11 0.19 0.48 0.2377 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982361 NA NA 0.225465 0.416024 NA 0.319 NA 3.6335684 1289 7 154645406 154645406 A G intronic DPP6 NA NA NA ncRNA_intronic ENSG00000236408 NA NA NA NA NA 7q36.2 NA NA NA NA rs6962284 0.73 0.73 0.697 0.69349 0.6998 0.9692 0.6225 0.556 0.6391 0.69 0.97 0.65 0.57 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866612 NA NA NA NA NA 0.594 NA 3.6335333 1289 10 106039303 106039303 A G intronic GSTO2 NA NA NA intronic ENSG00000065621 NA NA NA NA NA 10q25.1 NA NA NA NA rs276203 0.43 0.43 0.481 0.440495 0.3668 0.255 0.2752 0.8048 0.3323 0.36 0.27 0.31 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04999 NA NA NA NA NA 0.413 NA 3.6332 1289 11 124677941 124677941 C T intergenic MSANTD2,ROBO3 dist=7642;dist=57364 NA NA ncRNA_exonic ENSG00000254941 NA NA NA NA NA 11q24.2 NA NA NA NA rs646521 0.39 0.39 0.382 0.421326 0.3668 0.3452 0.2522 0.6067 0.4254 0.36 0.32 0.28 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152325 NA NA NA NA NA 0.355 NA 3.6332 1289 17 2908816 2908816 A G intronic RAP1GAP2 NA NA NA intronic ENSG00000132359 NA NA NA NA NA 17p13.3 NA NA NA NA rs2289648 0.33 0.33 0.317 0.30631 0.3668 0.3343 0.2983 0.3124 0.2127 0.34 0.33 0.3 0.33 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.87931 NA NA NA NA NA 0.254 NA 3.6332 1289 17 38179275 38179275 G T intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA NA NA rs12451897 0.32 0.32 0.313 0.314696 0.3668 0.4226 0.4135 0.0545 0.4315 0.36 0.41 0.41 0.07 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224823 NA NA NA NA NA 0.341 NA 3.6332 1289 17 66933003 66933003 C T intronic ABCA8 NA NA NA intronic ENSG00000141338 NA NA NA NA NA 17q24.2 NA NA NA NA rs4147967 0.32 0.32 0.312 0.268171 0.3668 0.5437 0.1801 0.0295 0.2679 0.4 0.56 0.17 0.03 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183275 NA NA NA NA NA 0.275 NA 3.6332 1289 16 56667242 56667242 T A intronic MT1M NA NA NA intronic ENSG00000205364 NA NA NA NA NA 16q12.2 NA NA NA NA rs55963173 0.07 0.07 0.061 0.0790735 0.1213 0.0139 0.098 0.062 0.1125 0.13 0.0035 0.09 0.06 0.1178 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44508 NA NA 0.128372 0.067395 NA 0.152 NA 3.632528 1289 13 34409242 34409242 T C intronic RFC3 NA NA NA intronic ENSG00000133119 NA NA NA NA NA 13q13.2 NA NA NA NA rs3135628 0.28 0.28 0.277 0.307308 0.0875 0.3373 0.3415 0.4735 0.2536 0.09 0.36 0.31 0.48 0.1905 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244111 NA NA 0.089597 0.434151 NA 0.196 NA 3.632403 1289 1 22912865 22912865 A G intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA NA NA NA rs537426 0.41 0.41 0.418 0.471645 0.3678 0.2708 0.379 0.6944 0.5501 0.36 0.27 0.4 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544504 NA NA NA NA NA 0.507 NA 3.6322 1289 1 31415040 31415040 A T intronic PUM1 NA NA NA intronic ENSG00000134644 NA NA NA NA NA 1p35.2 NA NA NA NA rs4949187 0.35 0.35 NA 0.345248 0.3678 0.3006 0.4697 0.2859 0.3599 0.37 0.31 0.44 0.3 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0162 NA NA NA NA NA 0.101 NA 3.6322 1289 2 44071833 44071833 A C intronic ABCG8 NA NA NA intronic ENSG00000143921 NA NA NA NA NA 2p21 NA NA NA NA rs4148212 0.47 0.47 0.482 0.514976 0.3678 0.8512 0.3847 0.4175 0.544 0.37 0.81 0.32 0.36 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3659 NA NA NA NA NA 0.362 NA 3.6322 1289 3 75420180 75420180 A G intergenic MIR4444-1,FAM86DP dist=156481;dist=50523 NA NA ncRNA_exonic ENSG00000230655 NA NA NA NA NA 3p12.3 NA NA NA NA rs62259093 0.26 0.26 0.231 0.259984 0.3678 0.0804 0.3674 0.264 0.2526 0.38 0.05 0.34 0.25 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3284 NA NA NA NA NA 0.304 NA 3.6322 1289 6 10876036 10876036 C T intronic GCM2 NA NA NA intronic ENSG00000124827,ENSG00000153157,ENSG00000272162 NA NA NA NA NA 6p24.2 NA NA NA NA rs2076258 0.44 0.44 0.458 0.413738 0.3678 0.6865 0.2478 0.3661 0.362 0.37 0.68 0.26 0.38 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266502 NA NA NA NA NA 0.616 NA 3.6322 1289 7 130023179 130023179 A G intronic CPA1 NA NA NA intronic ENSG00000091704 NA NA NA NA NA 7q32.2 NA NA NA NA rs6972781 0.4 0.4 0.373 0.404553 0.3678 0.4097 0.4496 0.4894 0.2904 0.36 0.39 0.44 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702364 NA NA NA NA NA 0.333 NA 3.6322 1289 8 64321723 64321723 C T intergenic YTHDF3,LOC286184 dist=196377;dist=360265 NA NA ncRNA_exonic ENSG00000215096 NA NA NA NA NA 8q12.3 NA NA NA NA rs11782289 0.37 0.37 0.401 0.330272 0.3678 0.3413 0.2795 0.357 0.2802 0.39 0.37 0.31 0.37 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.521817 NA 0.17 NA NA ID=COSM1180626;OCCURENCE=1(upper_aerodigestive_tract) 0.348 NA 3.6322 1289 10 55590850 55590850 G A intronic PCDH15 NA NA NA intronic ENSG00000150275 NA NA NA NA NA 10q21.1 NA NA NA NA rs10825117 0.46 0.46 0.458 0.440495 0.3678 0.7232 0.4251 0.2474 0.4959 0.36 0.77 0.38 0.3 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664884 NA NA NA NA NA 0.391 NA 3.6322 1289 10 90074145 90074145 A G intronic RNLS NA NA NA intronic ENSG00000184719 NA NA NA NA NA 10q23.31 NA NA NA NA rs11202711 0.25 0.25 0.228 0.256589 0.3678 0.1538 0.3285 0.1127 0.3916 0.38 0.18 0.29 0.12 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.474672 NA NA NA NA NA 0.333 NA 3.6322 1289 11 36669778 36669778 C T intronic C11orf74 NA NA NA intronic ENSG00000166352 NA NA NA NA NA 11p12 NA NA NA NA rs1566245 0.59 0.59 0.588 0.611022 0.3678 0.7579 0.6009 0.767 0.5061 0.37 0.79 0.55 0.74 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509656 NA NA NA NA NA 0.522 NA 3.6322 1289 12 117494543 117494543 A G intronic TESC NA NA NA intronic ENSG00000088992 NA NA NA NA NA 12q24.22 NA NA NA NA rs2173654 0.45 0.45 0.484 0.509784 0.3678 0.4365 0.2464 0.789 0.5409 0.37 0.38 0.26 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535332 NA NA NA NA NA 0.435 NA 3.6322 1289 17 49711042 49711042 A C intronic CA10 NA NA NA intronic ENSG00000154975 NA NA NA NA NA 17q21.33 NA NA NA NA rs60848939 NA NA NA 0.13778 0.1899 0.0347 0.1931 0.1006 0.2014 NA NA NA NA 0.178 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794425 NA NA NA NA NA NA NA 3.6321 1289 16 70516109 70516109 G A intronic COG4 NA NA NA intronic ENSG00000103051 NA NA NA NA NA 16q22.1 NA NA Name=64 NA rs12447090 0.34 0.34 0.315 0.285743 0.4841 0.4058 0.3674 0.0325 0.2423 0.49 0.38 0.4 0.03 0.4108 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63636 NA NA 0.473372 0.105551 NA 0.239 NA 3.631728 1289 1 200971521 200971521 G A intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs56770229 0.16 0.16 0.163 0.175919 0.1024 0.1022 0.085 0.4236 0.0573 0.1 0.1 0.09 0.38 0.1372 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816589 NA NA 0.12907 0.38039 NA 0.159 NA 3.63133 1289 1 200969921 200969921 G A intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs6692427 0.17 0.17 0.173 0.179712 0.1024 0.1022 0.085 0.4372 0.0583 0.1 0.1 0.09 0.39 0.1377 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127894 NA NA 0.128605 0.399001 NA 0.174 NA 3.631295 1289 12 662448 662448 T C exonic B4GALNT3 NA synonymous SNV B4GALNT3:NM_173593:exon14:c.T1359C:p.L453L exonic ENSG00000139044 NA synonymous SNV ENSG00000139044:ENST00000322843:exon12:c.T1068C:p.L356L,ENSG00000139044:ENST00000266383:exon14:c.T1359C:p.L453L NA NA 12p13.33 NA NA NA NA rs758790 0.8 0.8 0.796 0.847244 0.659 0.8958 0.7968 0.944 0.8957 0.65 0.9 0.81 0.9 0.7299 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160069 NA NA 0.646512 0.905583 NA 0.833 NA 3.6312546 1289 17 62048707 62048707 C T intronic SCN4A NA NA NA intronic ENSG00000007314 NA NA NA NA NA 17q23.3 NA NA NA NA rs2302237 0.29 0.29 0.284 0.252796 0.3688 0.3065 0.2752 0.1074 0.2587 0.38 0.32 0.27 0.11 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468761 NA NA NA NA NA 0.261 NA 3.6312 1289 19 36268923 36268923 C T intronic ARHGAP33 NA NA NA intronic ENSG00000004777 NA NA NA NA NA 19q13.12 NA NA NA NA rs807491 0.54 0.54 0.502 0.541733 0.3688 0.631 0.5893 0.6762 0.4121 0.37 0.63 0.56 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601369 NA NA NA NA NA 0.493 NA 3.6312 1289 7 21943722 21943722 T C intronic CDCA7L NA NA NA intronic ENSG00000164649 NA NA NA NA NA 7p15.3 NA NA NA NA rs35898649 0.09 0.09 0.085 0.0856629 0.1302 0.0496 0.0951 0.0499 0.1186 0.12 0.04 0.1 0.07 0.1123 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369238 NA NA 0.126512 0.058783 NA 0.051 NA 3.630988 1289 3 111719493 111719493 A G intronic TAGLN3 NA NA NA UTR5 ENSG00000144834 ENST00000486460:c.-198A>G NA NA NA NA 3q13.2 NA NA NA NA rs774764 0.56 0.56 0.522 0.55631 0.5358 0.5744 0.6772 0.5635 0.4632 0.53 0.55 0.64 0.56 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004226 NA NA NA NA NA 0.522 NA 3.6308667 1289 1 200969942 200969942 A G intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs6667956 0.17 0.17 0.168 0.180112 0.1024 0.1022 0.0865 0.438 0.0583 0.1 0.1 0.09 0.4 0.1379 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606326 NA NA 0.128837 0.398774 NA 0.174 NA 3.630863 1289 2 198359027 198359027 G C intronic HSPD1 NA NA NA intronic ENSG00000144381 NA NA NA NA NA 2q33.1 NA NA NA NA rs7585486 0.15 0.15 0.151 0.122804 0.1978 0.2183 0.1657 0.0083 0.0716 0.19 0.23 0.17 0.01 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484747 NA NA 0.171392 0.036232 NA 0.065 NA 3.630808 1289 8 145737040 145737040 C T intronic RECQL4 NA NA NA intronic ENSG00000160957 NA NA NA NA NA 8q24.3 NA Name=GABP NA NA rs2279243 0.38 0.38 0.316 0.393171 0.4543 0.5248 0.4957 0.0545 0.5798 0.46 0.47 0.52 0.06 0.464 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.767144 NA NA 0.450911 0.120094 NA 0.203 NA 3.630789 1289 6 160224346 160224346 T C intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA Score=336;Name=lod=31 NA 6q25.3 Score=894;Name=V$NKX3A_01 NA NA NA rs2146163 0.74 0.74 0.717 0.764577 0.7952 0.5893 0.8761 0.7519 0.8517 0.8 0.57 0.87 0.74 0.7923 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604626 NA NA 0.781744 0.731502 NA 0.652 NA 3.630756 1289 2 203682304 203682304 C G intronic ICA1L NA NA NA intronic ENSG00000163596 NA NA NA NA NA 2q33.2 NA NA NA NA rs72932772 0.08 0.08 0.08 0.0505192 0.1312 0.0159 0.0764 0.0295 0.0133 0.14 0.02 0.1 0.03 0.1129 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052047 NA NA 0.125146 0.039292 NA 0.022 NA 3.630754 1289 11 6415392 6415392 C T intronic SMPD1 NA NA NA intronic ENSG00000166311 NA NA NA NA NA 11p15.4 NA NA NA NA rs11601088 0.07 0.07 0.064 0.0838658 0.1203 0.004 0.085 0.0567 0.1646 0.11 0.0035 0.1 0.09 0.1165 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120922 NA NA 0.132449 0.058837 NA 0.087 NA 3.630751 1289 19 16232508 16232508 A G intronic RAB8A NA NA NA intronic ENSG00000167461 NA NA NA NA NA 19p13.12 NA NA NA NA rs55692650 0.14 0.14 0.142 0.141573 0.1819 0.0387 0.1153 0.1944 0.1534 0.18 0.03 0.13 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474207 1.474207 NA 0.187465 0.163903 NA 0.174 NA 3.630635 1289 7 76069937 76069937 C T intronic ZP3 NA NA NA intronic ENSG00000188372 NA NA NA NA NA 7q11.23 NA NA NA NA rs2906996 NA NA 0.227 NA NA NA NA NA NA NA NA NA NA 0.3694 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934694 NA NA NA NA NA NA NA 3.6306 1289 6 44144798 44144798 C T intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA NA NA rs6925778 0.5 0.5 0.523 0.51857 0.3698 0.6597 0.4135 0.5787 0.5194 0.35 0.66 0.42 0.63 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039643 NA NA NA NA NA 0.58 NA 3.6302 1289 7 64378806 64378806 C T intronic ZNF273 NA NA NA intronic ENSG00000198039 NA NA NA NA NA 7q11.21 NA NA NA NA rs7796966 0.28 0.28 0.209 0.267372 0.3698 0.2778 0.3818 0.0923 0.3067 0.35 0.27 0.38 0.1 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994485 NA NA NA NA NA 0.225 NA 3.6302 1289 15 62270765 62270765 G A intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs3784632 0.28 0.28 0.267 0.303714 0.3698 0.1687 0.2579 0.3086 0.4008 0.36 0.14 0.29 0.3 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370213 NA NA NA NA NA 0.391 NA 3.6302 1289 17 8390655 8390655 C T intronic MYH10 NA NA NA intronic ENSG00000133026,ENSG00000166579 NA NA NA NA NA 17p13.1 NA NA NA NA rs7219356 0.41 0.41 0.409 0.409145 0.3698 0.4315 0.428 0.3729 0.4622 0.38 0.42 0.37 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164533 NA NA NA NA NA 0.384 NA 3.6302 1289 5 96112295 96112295 C T intronic ERAP1 NA NA NA intronic ENSG00000153113,ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs56325109 0.08 0.08 0.046 0.0595048 0.1372 NA 0.1138 0.0053 0.0757 0.14 0.01 0.12 0.03 0.1012 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994829 NA NA 0.131432 0.020947 NA 0.159 NA 3.630168 1289 8 7218621 7218621 C G intronic ZNF705G NA NA NA intronic ENSG00000215372 NA NA NA NA NA 8p23.1 NA NA NA NA rs3989699 NA NA 0.342 NA NA NA NA NA NA NA NA NA NA 0.37 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375447 NA NA NA NA NA 0.043 NA 3.63 1289 14 22591583 22591583 G T intergenic OR4E2,DAD1 dist=457345;dist=442224 NA NA intronic ENSG00000211807 NA NA NA NA NA 14q11.2 NA NA NA NA rs145169458 0.01 0.01 0.007 0.00559105 0.0199 NA 0.0072 NA 0.0031 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430681 NA NA 0.017285 0.003613 NA NA NA 3.6294817 1289 2 26781247 26781247 G C intronic OTOF NA NA NA intronic ENSG00000115155 NA NA NA NA NA 2p23.3 NA NA NA NA rs4665880 0.31 0.31 0.301 0.297324 0.3708 0.1349 0.5159 0.2254 0.3313 0.36 0.16 0.51 0.27 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.314497 3.314497 NA NA NA NA 0.333 NA 3.6292 1289 2 130952498 130952498 G A intronic TUBA3E NA NA NA intronic ENSG00000152086 NA NA NA NA NA 2q21.1 NA NA NA NA rs1809107 0.42 0.42 0.374 0.415935 0.3708 0.4425 0.4856 0.3722 0.4448 0.36 0.47 0.47 0.4 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97574 NA NA NA NA NA 0.543 NA 3.6292 1289 2 130952540 130952540 C T intronic TUBA3E NA NA NA intronic ENSG00000152086 NA NA NA NA NA 2q21.1 NA NA NA NA rs56151061 0.41 0.41 0.362 0.415136 0.3708 0.4425 0.4856 0.3691 0.4448 0.36 0.47 0.46 0.4 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.11658 NA NA NA NA NA 0.529 NA 3.6292 1289 2 223511751 223511751 T C intronic FARSB NA NA NA intronic ENSG00000116120 NA NA NA NA NA 2q36.1 NA NA NA NA rs11695525 0.28 0.28 0.233 0.240815 0.3708 0.2927 0.2651 0.1014 0.2249 0.38 0.31 0.25 0.1 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029729 NA NA NA NA ID=COSN166418;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.268 NA 3.6292 1289 3 192590975 192590975 T A intronic MB21D2 NA NA NA intronic ENSG00000180611 NA NA NA NA NA 3q29 NA NA NA NA rs56001245 0.4 0.4 0.388 0.389577 0.3708 0.5615 0.2939 0.3033 0.4162 0.36 0.59 0.32 0.29 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62945 NA NA NA NA NA 0.399 NA 3.6292 1289 9 13987261 13987261 C G intergenic LINC00583,NFIB dist=41655;dist=94581 NA NA ncRNA_exonic ENSG00000229268 NA NA NA NA NA 9p23 NA NA NA NA rs870408 NA NA NA 0.176518 0.3708 0.0218 0.2421 0.1566 0.1166 NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113766 NA NA NA NA NA 0.326 NA 3.6292 1289 17 2222325 2222325 C T intronic SRR NA NA NA intronic ENSG00000167720 NA NA NA NA NA 17p13.3 NA NA NA NA rs8081273 0.52 0.52 0.502 0.496406 0.3708 0.6776 0.5461 0.587 0.2812 0.37 0.69 0.52 0.55 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068381 NA NA NA NA NA 0.471 NA 3.6292 1289 17 8397315 8397315 C T intronic MYH10 NA NA NA intronic ENSG00000133026 NA NA NA NA NA 17p13.1 NA NA NA NA rs2277670 0.41 0.41 0.406 0.415335 0.3708 0.4375 0.428 0.3933 0.4591 0.38 0.42 0.37 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112202 NA NA NA NA NA 0.384 NA 3.6292 1289 4 89668210 89668210 G T intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA rs2278877 0.21 0.21 0.211 0.249002 0.1024 0.2986 0.0562 0.323 0.3855 0.11 0.31 0.07 0.34 0.1618 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069508 NA NA 0.106628 0.273264 NA 0.239 NA 3.629172 1289 3 193036739 193036739 G C intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 NA NA NA NA rs73888251 0.2 0.2 0.198 0.218051 0.0994 0.2768 0.147 0.3101 0.2055 0.1 0.29 0.15 0.28 0.156 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213644 NA NA 0.115465 0.266909 NA 0.21 NA 3.629135 1289 11 129990587 129990587 A G intronic APLP2 NA NA NA intronic ENSG00000084234 NA NA NA NA NA 11q24.3 NA NA NA NA rs747180 0.28 0.28 0.295 0.305511 0.0964 0.3254 0.1455 0.7042 0.0746 0.1 0.3 0.14 0.63 0.1626 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494319 NA NA 0.111939 0.626306 ID=COSN164098;OCCURENCE=1(NS) 0.341 NA 3.629061 1289 19 6477256 6477256 G T exonic DENND1C NA synonymous SNV DENND1C:NM_024898:exon8:c.C486A:p.P162P exonic ENSG00000205744 NA synonymous SNV ENSG00000205744:ENST00000543576:exon6:c.C354A:p.P118P,ENSG00000205744:ENST00000590173:exon7:c.C354A:p.P118P,ENSG00000205744:ENST00000590867:exon7:c.C354A:p.P118P,ENSG00000205744:ENST00000381480:exon8:c.C486A:p.P162P,ENSG00000205744:ENST00000590473:exon8:c.C354A:p.P118P NA NA 19p13.3 NA NA NA NA rs348398 0.64 0.64 0.622 0.644569 0.6799 0.4722 0.6268 0.7912 0.6002 0.67 0.45 0.63 0.82 0.6459 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225139 NA NA 0.711869 0.774014 NA 0.558 NA 3.6289976 1289 22 30866471 30866471 A G intronic SEC14L3 NA NA NA intronic ENSG00000100012 NA NA NA NA NA 22q12.2 NA NA NA NA rs35074129 0.06 0.06 0.07 0.0449281 0.1461 0.001 0.0692 0.0038 0.0245 0.14 0.0017 0.06 0.0041 0.0897 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099595 NA NA 0.135233 0.024058 NA 0.159 NA 3.628967 1289 15 101887794 101887794 T C UTR3 PCSK6 NM_138324:c.*134A>G,NM_138323:c.*175A>G NA NA UTR3 ENSG00000140479 ENST00000398181:c.*175A>G,ENST00000344273:c.*134A>G NA NA NA NA 15q26.3 NA NA NA NA rs1030 0.76 0.76 0.778 0.737021 0.7048 0.7847 0.8084 0.8313 0.5429 0.7 0.8 0.78 0.79 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581065 NA NA NA NA NA 0.819 NA 3.6285334 1289 15 30020106 30020106 A G intronic TJP1 NA NA NA intronic ENSG00000104067 NA NA NA NA NA 15q13.1 NA NA NA NA rs11073221 0.11 0.11 0.085 0.141973 0.1262 0.125 0.2017 0.0605 0.2434 0.11 0.1 0.18 0.07 0.1363 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726149 NA NA 0.109299 0.071855 NA 0.094 NA 3.628201 1289 4 83626382 83626382 C A intronic SCD5 NA NA NA intronic ENSG00000145284 NA NA NA NA NA 4q21.22 NA NA NA NA rs1876218 0.35 0.35 0.295 0.316494 0.3718 0.4296 0.4841 0.0719 0.3548 0.39 0.42 0.47 0.1 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.68262 1.68262 NA NA NA NA 0.297 NA 3.6282 1289 6 3298568 3298568 C T intronic SLC22A23 NA NA NA intronic ENSG00000137266,ENSG00000180822 NA NA NA NA NA 6p25.2 NA NA NA NA rs72839355 0.23 0.23 0.204 0.220647 0.3718 0.1766 0.2118 0.0492 0.3487 0.38 0.18 0.23 0.06 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318281 NA NA NA NA NA 0.174 NA 3.6282 1289 6 160484321 160484321 A G intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs8191852 0.52 0.52 0.49 0.532149 0.3718 0.6925 0.4352 0.6256 0.4744 0.37 0.71 0.42 0.58 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782194 NA NA NA NA NA 0.529 NA 3.6282 1289 7 65983529 65983529 G A intergenic LINC00174,LOC493754 dist=118134;dist=35024 NA NA ncRNA_intronic ENSG00000234500 NA NA NA NA NA 7q11.21 NA NA NA NA rs11763189 0.38 0.38 0.319 0.407947 0.3718 0.5575 0.3977 0.2436 0.5204 0.37 0.55 0.38 0.21 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340661 NA NA NA NA NA 0.377 NA 3.6282 1289 7 150209733 150209733 G C intergenic GIMAP8,GIMAP7 dist=33250;dist=2212 NA NA ncRNA_exonic ENSG00000213205 NA NA NA NA NA 7q36.1 NA NA NA NA rs111350935 0.27 0.27 0.227 0.233826 0.3718 0.2411 0.2767 0.0961 0.2403 0.36 0.27 0.27 0.12 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360391 NA NA NA NA NA 0.181 NA 3.6282 1289 9 88943171 88943171 T C intronic ZCCHC6 NA NA NA intronic ENSG00000083223 NA NA NA NA NA 9q21.33 NA NA NA NA rs791314 0.17 0.17 0.163 0.136981 0.3718 0.006 0.1888 0.0204 0.1513 0.38 0.01 0.19 0.03 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449215 NA NA NA NA NA 0.225 NA 3.6282 1289 11 47447346 47447346 C T intronic PSMC3 NA NA NA intronic ENSG00000165916 NA NA NA NA NA 11p11.2 NA NA NA NA rs10838709 0.3 0.3 0.298 0.327276 0.3718 0.3988 0.2579 0.1422 0.5072 0.37 0.33 0.27 0.17 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.354065 2.354065 NA NA NA NA 0.275 NA 3.6282 1289 13 25399677 25399677 A G intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA NA NA 13q12.12 NA NA NA NA rs12429158 0.41 0.41 0.397 0.407348 0.3718 0.3562 0.4452 0.447 0.4162 0.38 0.39 0.44 0.44 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559429 NA NA NA NA NA 0.362 NA 3.6282 1289 20 31677474 31677474 A G intronic BPIFB4 NA NA NA intronic ENSG00000186191 NA NA NA NA NA 20q11.21 NA NA NA NA rs7271727 0.43 0.43 0.36 0.422923 0.3718 0.753 0.4496 0.1233 0.5215 0.38 0.76 0.42 0.13 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192621 NA NA NA NA NA NA NA 3.6282 1289 21 37420785 37420785 C T intronic SETD4 NA NA NA intronic ENSG00000185917 NA NA NA NA NA 21q22.12 NA NA NA NA rs880221 0.36 0.36 0.351 0.378594 0.3718 0.3403 0.4121 0.3623 0.4233 0.37 0.3 0.41 0.37 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135718 NA NA NA NA NA 0.362 NA 3.6282 1289 16 12662328 12662328 C G intronic SNX29 NA NA NA ncRNA_intronic ENSG00000259899 NA NA NA NA NA 16p13.12 NA NA NA NA rs2288422 0.31 0.31 0.304 0.307708 0.2306 0.4514 0.1974 0.3419 0.271 0.25 0.44 0.22 0.32 0.2521 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417771 NA NA 0.222485 0.292393 NA 0.29 NA 3.6281483 1289 20 52592026 52592026 T C intronic BCAS1 NA NA NA intronic ENSG00000064787 NA NA NA NA NA 20q13.2 NA NA NA NA rs2302039 0.13 0.13 0.119 0.127995 0.1948 0.1419 0.134 0.0098 0.2004 0.19 0.12 0.16 0.02 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.224517 3.224517 NA 0.177247 0.031069 NA 0.094 NA 3.627953 1289 22 22868211 22868211 G A UTR3 ZNF280A NM_080740:c.*115C>T NA NA UTR3 ENSG00000169548 ENST00000302097:c.*115C>T NA NA NA NA 22q11.22 NA NA NA NA rs361558 0.53 0.53 0.474 0.474241 0.7058 0.4127 0.732 0.2398 0.4335 0.7 0.42 0.7 0.26 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073864 NA NA NA NA NA 0.413 NA 3.6275334 1289 1 203819203 203819203 A G intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs11240605 0.09 0.09 0.077 0.0872604 0.1282 0.0357 0.0562 0.112 0.0869 0.13 0.04 0.08 0.08 0.1179 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926571 NA NA 0.126452 0.112373 NA 0.058 NA 3.627448 1289 11 48998688 48998688 A G intergenic OR4A47,TRIM49B dist=487414;dist=54464 NA NA ncRNA_exonic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs7113308 0.18 0.18 0.155 0.196286 0.1769 0.1667 0.1527 0.2995 0.138 0.17 0.16 0.14 0.26 0.1957 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94177 NA 1 NA NA NA 0.13 NA 3.6274 1289 9 134342939 134342939 A G intronic PRRC2B NA NA NA intronic ENSG00000130723 NA NA NA NA NA 9q34.13 NA NA NA NA rs17458249 0.06 0.06 0.04 0.043131 0.1402 0.001 0.0591 0.0061 0.0256 0.13 0.0017 0.06 0.0041 0.1175 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.44288 NA NA 0.115088 0.018974 NA 0.029 NA 3.627212 1289 1 75680433 75680433 G A intronic SLC44A5 NA NA NA intronic ENSG00000137968 NA NA NA NA NA 1p31.1 NA NA NA NA rs687715 0.34 0.34 0.342 0.357029 0.3728 0.1548 0.3012 0.5068 0.3865 0.39 0.14 0.32 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465285 NA NA NA NA NA 0.312 NA 3.6272 1289 6 29797782 29797782 T C intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs1611627 0.44 0.44 0.429 0.45647 0.3728 0.4067 0.428 0.5076 0.545 0.36 0.49 0.43 0.49 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096935 NA NA NA NA NA 0.478 NA 3.6272 1289 14 77639925 77639925 G A intergenic ZDHHC22,TMEM63C dist=31791;dist=8177 NA NA ncRNA_exonic ENSG00000258552 NA NA NA NA NA 14q24.3 NA NA NA NA rs8016243 0.4 0.4 0.375 0.400958 0.3728 0.6796 0.2911 0.1505 0.5593 0.38 0.67 0.28 0.18 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154477 NA NA NA NA NA 0.413 NA 3.6272 1289 14 104750871 104750871 G A intergenic KIF26A,C14orf180 dist=103636;dist=295185 NA NA ncRNA_intronic ENSG00000258913 NA NA NA NA NA 14q32.33 NA NA NA NA rs28652801 0.48 0.48 0.47 0.528355 0.3728 0.5387 0.3631 0.7776 0.4581 0.36 0.48 0.36 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441096 1.441096 NA NA NA NA 0.507 NA 3.6272 1289 10 102059329 102059329 G C intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA NA NA NA rs2242050 0.18 0.18 0.178 0.186901 0.1213 0.1171 0.183 0.323 0.1452 0.12 0.12 0.19 0.34 0.1383 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785976 NA NA 0.113372 0.278711 NA 0.167 NA 3.627028 1289 6 49816049 49816049 T A intronic CRISP1 NA NA NA intronic ENSG00000124812 NA NA NA NA NA 6p12.3 NA NA NA NA rs62404906 0.06 0.06 0.041 0.0439297 0.1272 NA 0.0504 0.0091 0.046 0.13 NA 0.06 0.01 0.0988 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34888 NA NA 0.14736 0.031321 NA 0.101 NA 3.62664 1289 13 45914957 45914957 T C intronic TPT1 NA NA NA splicing ENSG00000133112 NA NA NA NA NA 13q14.13 NA Name=CTCF,TAF1,E2F6_(H-50),ETS1,Pol2,YY1_(C-20),HEY1,ZBTB7A_(SC-34508),c-Myc,CCNT2,GATA2_(CG2-96),TBP,YY1,Ini1,CTCF_(SC-5916),Pol2-4H8,E2F1,HA-E2F1 NA NA rs2234216 0.6 0.6 0.604 0.602436 0.6223 0.3353 0.5749 0.9085 0.4632 0.62 0.34 0.59 0.91 0.6165 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151723 NA NA 0.634575 0.848409 NA 0.652 NA 3.626625 1289 11 16873799 16873799 C T intronic PLEKHA7 NA NA NA intronic ENSG00000166689 NA NA NA NA NA 11p15.1 NA NA NA NA rs417406 0.12 0.12 0.12 0.11262 0.1362 0.1577 0.183 0.0257 0.1094 0.12 0.17 0.18 0.03 0.12 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041617 NA NA 0.117257 0.038864 NA 0.101 NA 3.626543 1289 19 10096482 10096482 C T intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs11670705 0.18 0.18 0.169 0.197085 0.1233 0.0833 0.1326 0.4206 0.1339 0.12 0.08 0.14 0.4 0.137 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768018 NA NA 0.113256 0.374943 NA 0.196 NA 3.626444 1289 1 154420778 154420778 T C intronic IL6R NA NA NA intronic ENSG00000160712 NA NA NA NA NA 1q21.3 NA NA NA NA rs7529229 0.47 0.47 0.462 0.453874 0.3738 0.3204 0.585 0.6604 0.3016 0.37 0.36 0.53 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553615 NA NA NA NA NA 0.522 NA 3.6262 1289 6 165715875 165715875 A C intronic C6orf118 NA NA NA intronic ENSG00000112539 NA NA NA NA NA 6q27 NA NA NA NA rs561155 0.46 0.46 0.461 0.488618 0.3738 0.2073 0.4424 0.8389 0.456 0.39 0.24 0.43 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347067 NA NA NA NA NA 0.471 NA 3.6262 1289 6 165715891 165715891 T C intronic C6orf118 NA NA NA intronic ENSG00000112539 NA NA NA NA NA 6q27 NA NA NA NA rs561112 0.43 0.43 0.437 0.460863 0.3738 0.2113 0.4308 0.7368 0.456 0.38 0.24 0.42 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400108 NA NA NA NA NA 0.449 NA 3.6262 1289 19 8976504 8976504 G A intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs3764553 0.32 0.32 0.31 0.282149 0.3738 0.2569 0.3602 0.2292 0.2301 0.37 0.31 0.4 0.2 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108053 NA NA NA NA NA 0.275 NA 3.6262 1289 15 85411692 85411692 C T UTR3 ALPK3 NM_020778:c.*5C>T NA NA UTR3 ENSG00000136383 ENST00000258888:c.*5C>T NA NA NA NA 15q25.3 NA NA NA NA rs3748380 0.36 0.36 0.323 0.394968 0.2078 0.5823 0.2997 0.3896 0.4693 0.2 0.56 0.3 0.41 0.3075 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.202856 NA NA 0.192066 0.362335 NA 0.297 NA 3.6259674 1289 10 49446204 49446204 T C intronic FRMPD2 NA NA NA intronic ENSG00000170324 NA NA NA NA NA 10q11.22 NA NA NA NA rs905184 0.12 0.12 0.12 0.11881 0.1322 0.0754 0.0749 0.1687 0.1135 0.14 0.06 0.08 0.2 0.1187 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739969 NA NA 0.12314 0.168861 NA 0.174 NA 3.62596 1289 6 49815906 49815906 A G intronic CRISP1 NA NA NA intronic ENSG00000124812 NA NA NA NA NA 6p12.3 NA NA NA NA rs62404905 0.06 0.06 0.042 0.0439297 0.1272 NA 0.0504 0.0091 0.046 0.13 NA 0.06 0.01 0.0983 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304251 NA NA 0.148605 0.032456 NA 0.101 NA 3.625895 1289 14 106471547 106471547 A G intergenic ADAM6,LINC00226 dist=33189;dist=272722 NA NA exonic ENSG00000211935 NA nonsynonymous SNV ENSG00000211935:ENST00000390595:exon2:c.T50C:p.V17A NA NA 14q32.33 NA NA NA NA rs1143496 0.47 0.47 0.413 0.584465 0.5915 0.7351 0.5634 0.3654 0.7331 0.48 0.65 0.44 0.26 0.616 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250828 NA 1 NA NA NA 0.442 NA 3.6258334 1289 12 11421522 11421522 C T intronic PRB3 NA NA NA intronic ENSG00000197870 NA NA NA NA NA 12p13.2 NA NA NA NA rs59152757 0.09 0.09 0.094 0.102037 0.1113 0.0645 0.1023 0.0787 0.1626 0.11 0.07 0.11 0.08 0.1287 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613195 NA NA 0.134186 0.084884 NA 0.123 NA 3.625814 1289 17 39728050 39728050 G A exonic KRT9 NA synonymous SNV KRT9:NM_000226:exon1:c.C195T:p.G65G exonic ENSG00000171403 NA synonymous SNV ENSG00000171403:ENST00000246662:exon1:c.C195T:p.G65G NA NA 17q21.2 NA NA NA NA rs8070680 0.75 0.75 0.743 0.78095 0.667 1 0.7709 0.6377 0.8732 0.67 1 0.75 0.6 0.7292 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273738 NA NA 0.644767 0.631185 NA 0.754 NA 3.6256996 1289 2 127821452 127821452 C T intronic BIN1 NA NA NA intronic ENSG00000136717 NA NA NA NA NA 2q14.3 NA NA NA NA rs2071267 0.17 0.17 0.136 0.145567 0.1849 0.2202 0.1859 0.0499 0.1288 0.19 0.23 0.19 0.06 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729273 NA NA 0.189503 0.051301 NA 0.123 NA 3.625597 1289 19 53381429 53381429 G T UTR3 ZNF320 NM_207333:c.*2420C>A NA NA UTR3 ENSG00000182986 ENST00000391781:c.*2420C>A,ENST00000595635:c.*2420C>A NA NA NA NA 19q13.41 NA NA NA NA rs2162919 0.57 0.57 0.575 0.585264 0.7078 0.3631 0.4712 0.6914 0.6258 0.69 0.34 0.51 0.66 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197684 NA NA NA NA NA 0.696 NA 3.6255334 1289 6 49808716 49808716 G A intronic CRISP1 NA NA NA intronic ENSG00000124812 NA NA NA NA NA 6p12.3 NA NA NA NA rs1572882 0.06 0.06 0.042 0.0445288 0.1272 NA 0.0504 0.0106 0.047 0.13 NA 0.06 0.01 0.0988 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466909 NA NA 0.148488 0.032683 NA 0.101 NA 3.625512 1289 11 65320780 65320780 G A intronic LTBP3 NA NA NA intronic ENSG00000168056 NA NA NA NA NA 11q13.1 NA NA Name=26 NA rs4244811 0.58 0.58 0.543 0.547923 0.6948 0.6905 0.7233 0.2239 0.5634 0.7 0.66 0.69 0.24 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.144933 NA NA 0.679761 0.304191 NA 0.464 NA 3.625439 1289 6 96999643 96999643 A G intronic UFL1 NA NA NA intronic ENSG00000014123 NA NA NA NA NA 6q16.1 NA NA NA NA rs2255552 0.46 0.46 0.507 0.482628 0.3748 0.3532 0.3271 0.8222 0.3783 0.36 0.35 0.38 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419197 NA NA NA NA NA 0.522 NA 3.6252 1289 9 130117861 130117861 C A intronic GARNL3 NA NA NA intronic ENSG00000136895 NA NA NA NA NA 9q33.3 NA NA NA NA rs58473776 0.24 0.24 0.227 0.232628 0.3748 0.2173 0.2118 0.09 0.3098 0.37 0.19 0.23 0.11 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653222 NA NA NA NA NA 0.297 NA 3.6252 1289 10 90074140 90074140 G A intronic RNLS NA NA NA intronic ENSG00000184719 NA NA NA NA NA 10q23.31 NA NA NA NA rs11202710 0.27 0.27 0.259 0.279752 0.3748 0.1726 0.3343 0.1573 0.4192 0.38 0.2 0.3 0.17 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.326557 NA NA NA NA NA 0.384 NA 3.6252 1289 14 77809939 77809939 C T intronic TMED8 NA NA NA intronic ENSG00000100580 NA NA NA NA NA 14q24.3 NA NA NA NA rs3815628 0.35 0.35 0.303 0.33726 0.3748 0.5258 0.4539 0.0696 0.3834 0.37 0.52 0.42 0.09 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.066904 3.066904 NA NA NA NA 0.21 NA 3.6252 1289 19 8976921 8976921 C T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs11085755 0.32 0.32 0.295 0.285543 0.3748 0.2609 0.3573 0.23 0.2434 0.37 0.31 0.39 0.2 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584084 NA NA NA NA NA 0.275 NA 3.6252 1289 19 42313921 42313921 G T intronic CEACAM3 NA NA NA intronic ENSG00000170956 NA NA NA NA NA 19q13.2 NA NA NA NA rs734107 0.51 0.51 0.495 0.520767 0.3748 0.5367 0.4841 0.7534 0.3661 0.38 0.56 0.42 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118545 NA NA NA NA NA 0.536 NA 3.6252 1289 20 1896244 1896244 A G intronic SIRPA NA NA NA intronic ENSG00000198053 NA NA NA NA NA 20p13 NA NA NA NA rs6136376 0.44 0.44 0.423 0.446286 0.3748 0.6528 0.4582 0.3207 0.4683 0.37 0.66 0.42 0.33 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560798 NA NA NA NA NA 0.42 NA 3.6252 1289 22 32886998 32886998 T C intronic FBXO7 NA NA NA intronic ENSG00000100225 NA NA NA NA NA 22q12.3 NA NA NA NA rs738982 0.49 0.49 0.481 0.494209 0.3748 0.6925 0.5663 0.4289 0.4499 0.39 0.69 0.53 0.39 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406271 NA NA NA NA ID=COSN166740;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.442 NA 3.6252 1289 12 48179044 48179044 C G intronic HDAC7 NA NA NA exonic ENSG00000268069 NA nonsynonymous SNV ENSG00000268069:ENST00000599515:exon1:c.C128G:p.S43C NA NA 12q13.11 NA NA NA NA rs3815133 0.82 0.82 0.82 0.81869 0.7445 0.9137 0.7867 0.823 0.8139 0.75 0.92 0.78 0.83 0.7971 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.407969 3.407969 NA NA NA NA 0.841 NA 3.6250667 1290 9 35074917 35074917 T C intronic FANCG NA NA NA intronic ENSG00000221829 NA NA NA NA NA 9p13.3 Score=906;Name=V$AREB6_01 NA NA NA rs587118 0.25 0.25 0.22 0.220248 0.4801 0.004 0.5 0.0212 0.2464 0.48 0.0035 0.47 0.03 0.3957 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.468385 1.468385 NA 0.499302 0.094417 NA 0.355 NA 3.624898 1290 7 154143443 154143443 C T intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs2291538 0.22 0.22 0.244 0.211462 0.1193 0.2063 0.1268 0.4289 0.0777 0.12 0.23 0.12 0.42 0.1385 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125173 NA NA 0.117333 0.377299 NA 0.174 NA 3.624867 1290 1 19564650 19564650 C G intronic EMC1 NA NA NA ncRNA_intronic ENSG00000230424 NA NA NA NA NA 1p36.13 NA NA NA NA rs2073104 0.32 0.32 0.28 0.307308 0.2237 0.6141 0.3847 0.1029 0.2986 0.21 0.64 0.34 0.1 0.269 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126575 NA NA 0.216163 0.120064 NA 0.181 NA 3.6244703 1290 17 10418275 10418275 T G intronic MYH1 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs1017068 0.49 0.49 0.468 0.51238 0.335 0.8631 0.4841 0.3132 0.6227 0.34 0.87 0.48 0.31 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014107 NA NA 0.373899 0.34104 NA 0.529 NA 3.6244343 1290 4 76571732 76571732 C T intronic G3BP2 NA NA NA intronic ENSG00000138757 NA NA NA NA NA 4q21.1 NA NA NA NA rs884871 0.32 0.32 0.322 0.290935 0.3757 0.0685 0.2781 0.5265 0.1237 0.37 0.06 0.3 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258386 NA NA NA NA NA 0.406 NA 3.6243 1290 9 126129351 126129351 G A intronic CRB2 NA NA NA intronic ENSG00000148204 NA NA NA NA NA 9q33.3 NA NA NA NA rs10760281 0.31 0.31 0.289 0.291733 0.3757 0.3879 0.3271 0.1097 0.3272 0.39 0.34 0.36 0.11 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59823 NA NA NA NA NA 0.196 NA 3.6243 1290 14 95089867 95089867 A T intronic SERPINA3 NA NA NA intronic ENSG00000196136 NA NA NA NA NA 14q32.13 NA NA NA NA rs742897 0.45 0.45 0.496 0.48143 0.3757 0.3433 0.4006 0.7859 0.3783 0.37 0.3 0.4 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568912 NA NA NA NA NA 0.362 NA 3.6243 1290 17 31324657 31324657 T C intronic SPACA3 NA NA NA intronic ENSG00000141316 NA NA NA NA NA 17q11.2 NA NA NA NA rs28958 0.46 0.46 0.48 0.508387 0.3757 0.4226 0.2911 0.7413 0.5726 0.39 0.45 0.31 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798834 NA NA NA NA NA 0.471 NA 3.6243 1290 18 33726447 33726447 C G intronic ELP2 NA NA NA intronic ENSG00000134759 NA NA NA NA NA 18q12.2 NA NA NA NA rs1785927 0.29 0.29 0.27 0.245208 0.3757 0.1756 0.3674 0.1641 0.2055 0.39 0.18 0.41 0.17 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76776 NA NA NA NA NA 0.254 NA 3.6243 1290 12 62114671 62114671 T C intronic FAM19A2 NA NA NA UTR3 ENSG00000198673 ENST00000549379:c.*23A>G NA NA Score=623;Name=lod=455 NA 12q14.1 NA NA NA NA rs7485027 0.54 0.54 0.554 0.551917 0.5179 0.5992 0.5173 0.5923 0.5082 0.53 0.56 0.5 0.59 0.5271 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.957469 1.957469 NA 0.497489 0.568493 NA 0.551 NA 3.6241777 1290 18 6977719 6977719 A G intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs10164200 0.12 0.12 0.113 0.106629 0.1252 0.0883 0.1009 0.1051 0.1125 0.13 0.1 0.1 0.13 0.1179 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.904792 1.904792 NA 0.132791 0.108488 NA 0.138 NA 3.624109 1290 11 123754078 123754078 A G intronic TMEM225 NA NA NA intronic ENSG00000204300 NA NA NA NA NA 11q24.1 NA NA NA NA rs61908536 0.1 0.1 0.095 0.0882588 0.1372 0.0228 0.0821 0.1067 0.0849 0.14 0.02 0.07 0.14 0.1171 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895899 NA NA 0.121685 0.109219 NA 0.072 NA 3.624015 1290 22 30767729 30767729 A G ncRNA_exonic KIAA1656 NA NA NA intronic ENSG00000187860 NA NA NA NA NA 22q12.2 NA NA NA NA rs1076298 0.17 0.17 0.171 0.153554 0.2545 0.1458 0.1571 0.1331 0.0828 0.24 0.12 0.16 0.14 0.1976 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844159 NA NA 0.257326 0.151158 NA 0.275 NA 3.6239073 1290 22 37628993 37628993 T G intronic RAC2 NA NA NA intronic ENSG00000128340 NA NA NA NA NA 22q13.1 NA NA NA NA rs9610684 0.17 0.17 0.162 0.174521 0.1223 0.2718 0.0836 0.1989 0.1595 0.12 0.22 0.09 0.22 0.1352 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063516 NA NA 0.118605 0.17113 NA 0.217 NA 3.623895 1290 2 197645397 197645397 C T intronic GTF3C3 NA NA NA intronic ENSG00000119041 NA NA NA NA NA 2q33.1 NA NA NA NA rs76804254 0.08 0.08 0.076 0.0698882 0.1332 0.003 0.0836 0.09 0.0368 0.14 NA 0.09 0.08 0.11 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.725464 NA NA 0.13314 0.094417 NA 0.058 NA 3.62366 1290 5 94259621 94259621 C T intronic MCTP1 NA NA NA intronic ENSG00000175471 NA NA NA NA NA 5q15 NA NA NA NA rs34187028 0.11 0.11 0.098 0.10024 0.1183 0.0595 0.1499 0.0953 0.0951 0.13 0.05 0.16 0.1 0.1217 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420607 NA NA 0.136469 0.093282 NA 0.087 NA 3.623531 1290 2 220172576 220172576 A C intronic PTPRN NA NA NA intronic ENSG00000054356 NA NA NA NA NA 2q35 NA NA NA NA rs7591986 0.19 0.19 0.181 0.213658 0.1103 0.125 0.1182 0.4191 0.2014 0.11 0.14 0.14 0.42 0.146 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.796423 3.796423 NA 0.120233 0.380163 NA 0.275 NA 3.623467 1290 12 12247594 12247594 A G UTR3 BCL2L14 NM_030766:c.*69A>G NA NA UTR3 ENSG00000121380 ENST00000266434:c.*69A>G NA NA NA NA 12p13.2 NA NA NA NA rs11054682 0.19 0.19 0.184 0.166134 0.2535 0.0188 0.1686 0.2428 0.1227 0.26 0.01 0.2 0.26 0.2099 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010097 NA NA 0.246628 0.228325 NA 0.232 NA 3.6233054 1290 2 10927345 10927345 T C intronic PDIA6 NA NA NA intronic ENSG00000143870 NA NA NA NA NA 2p25.1 NA NA NA NA rs1686510 0.42 0.42 0.415 0.466653 0.3767 0.4117 0.4179 0.525 0.5716 0.37 0.36 0.43 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497363 NA NA NA NA NA 0.457 NA 3.6233 1290 4 48894981 48894981 G A intronic OCIAD2 NA NA NA intronic ENSG00000145247 NA NA NA NA NA 4p11 NA NA NA NA rs2289065 0.4 0.4 0.37 0.356629 0.3767 0.4653 0.5605 0.1558 0.3507 0.37 0.51 0.57 0.18 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21039 NA NA NA NA NA 0.283 NA 3.6233 1290 6 38782034 38782034 T C intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs1678691 0.51 0.51 0.473 0.512181 0.3767 0.7946 0.5937 0.3495 0.5225 0.38 0.78 0.55 0.35 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027047 NA NA NA NA NA 0.551 NA 3.6233 1290 9 96407848 96407848 A G intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA NA NA 9q22.31 NA NA NA NA rs7851271 0.36 0.36 0.329 0.302316 0.3767 0.374 0.3372 0.2943 0.138 0.38 0.39 0.36 0.29 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701485 NA NA NA NA NA 0.399 NA 3.6233 1290 10 124036190 124036190 T C intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA NA NA rs7086389 0.5 0.5 0.519 0.484026 0.3767 0.624 0.4798 0.5726 0.3333 0.38 0.64 0.47 0.53 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284695 NA NA NA NA NA 0.406 NA 3.6233 1290 10 125528297 125528297 T G intronic CPXM2 NA NA NA intronic ENSG00000121898 NA NA NA NA NA 10q26.13 NA NA NA NA rs1219724 0.4 0.4 0.373 0.382188 0.3767 0.6012 0.4827 0.1558 0.3967 0.38 0.61 0.45 0.16 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404371 NA NA NA NA NA 0.312 NA 3.6233 1290 15 41818917 41818917 G A intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs1473781 0.25 0.25 0.217 0.233626 0.3767 0.1756 0.4049 0.0144 0.3211 0.39 0.16 0.39 0.01 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749187 NA NA NA NA NA 0.217 NA 3.6233 1290 14 94956134 94956134 G A intronic SERPINA12 NA NA NA intronic ENSG00000165953 NA NA NA NA NA 14q32.13 NA NA NA NA rs3736803 0.13 0.13 0.136 0.100639 0.1451 0.1865 0.1138 0.0068 0.0838 0.14 0.22 0.1 0.01 0.1137 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352092 NA NA 0.117907 0.025874 NA 0.058 NA 3.623293 1290 8 42044897 42044897 C T intronic PLAT NA NA NA intronic ENSG00000104368 NA NA NA NA NA 8p11.21 NA NA NA NA rs8178749 0.12 0.12 0.106 0.116613 0.1153 0.1885 0.085 0.0613 0.1411 0.12 0.16 0.09 0.1 0.1338 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340535 NA NA 0.128023 0.074217 NA 0.065 NA 3.622877 1290 14 22090594 22090594 C G intergenic OR10G3,OR10G2 dist=51719;dist=11472 NA NA exonic ENSG00000255569 NA nonsynonymous SNV ENSG00000255569:ENST00000542354:exon2:c.C200G:p.A67G NA NA 14q11.2 NA NA NA NA rs1063365 0.29 0.29 0.291 0.290335 0.4394 0.0933 0.2637 0.3154 0.3252 0.43 0.09 0.29 0.32 0.3568 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698588 NA 0.33 0.414331 0.317662 NA 0.355 NA 3.6228024 1290 11 866499 866499 G A intronic TSPAN4 NA NA NA intronic ENSG00000214063 NA NA NA NA NA 11p15.5 NA NA NA NA rs34165342 0.16 0.16 0.147 0.182708 0.2346 0.1538 0.2277 0.0129 0.3569 0.23 0.17 0.2 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107102 NA NA 0.142678 0.013728 NA NA NA 3.622722 1290 21 46186603 46186603 A G intergenic TSPEAR,UBE2G2 dist=55108;dist=1892 NA NA intergenic ENSG00000175894,ENSG00000184787 dist=55108;dist=2352 NA NA NA NA 21q22.3 NA NA Name=5 NA rs3788134 0.79 0.79 0.782 0.781749 0.7107 0.7698 0.7233 0.9213 0.7198 0.72 0.8 0.72 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70752 NA NA NA NA NA 0.732 NA 3.6226334 1290 14 107114193 107114193 A G intergenic LINC00221,NONE dist=162664;dist=NONE NA NA exonic ENSG00000223648 NA nonsynonymous SNV ENSG00000223648:ENST00000454421:exon1:c.T5C:p.M2T NA NA 14q32.33 NA NA NA NA rs2073670 0.51 0.51 0.509 0.584265 0.3887 0.5337 0.4568 0.7564 0.6953 0.38 0.49 0.48 0.76 0.4402 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049334 NA 0 0.382009 0.675401 NA 0.464 NA 3.6224244 1290 6 168315744 168315744 G A intronic MLLT4 NA NA NA intronic ENSG00000130396 NA NA NA NA NA 6q27 NA NA NA NA rs3213589 0.51 0.51 0.481 0.541334 0.3777 0.7946 0.549 0.3911 0.6462 0.39 0.78 0.54 0.35 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603629 NA NA NA NA NA 0.377 NA 3.6223 1290 9 19062942 19062942 A G intronic HAUS6 NA NA NA intronic ENSG00000147874 NA NA NA NA NA 9p22.1 NA NA NA NA rs12343169 0.4 0.4 0.415 0.428514 0.3777 0.2381 0.3746 0.6921 0.3589 0.39 0.22 0.36 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555357 NA NA NA NA NA 0.457 NA 3.6223 1290 22 47071531 47071531 T C intronic GRAMD4 NA NA NA intronic ENSG00000075240 NA NA NA NA NA 22q13.31 NA NA NA NA rs2073276 0.37 0.37 0.32 0.344449 0.3777 0.3988 0.4006 0.3389 0.2219 0.36 0.4 0.44 0.32 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521265 NA NA NA NA NA 0.29 NA 3.6223 1290 9 95004421 95004421 G C intronic IARS NA NA NA intronic ENSG00000196305 NA NA NA NA NA 9q22.31 NA NA NA NA rs41280213 0.1 0.1 0.1 0.123003 0.1223 0.0764 0.1614 0.0522 0.2403 0.13 0.09 0.14 0.05 0.1356 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279875 NA NA 0.119884 0.067181 NA 0.101 NA 3.622216 1290 6 32303672 32303672 T A intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs6909607 0.13 0.13 0.109 0.133187 0.1163 0.2083 0.1801 0.0696 0.1258 0.11 0.2 0.17 0.05 0.1454 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098015 NA NA 0.116464 0.077763 NA 0.123 NA 3.621836 1290 15 79307632 79307632 A T intronic RASGRF1 NA NA NA intronic ENSG00000058335 NA NA NA NA NA 15q25.1 NA NA NA NA rs3816283 0.09 0.09 0.086 0.081869 0.1362 0.1012 0.0677 0.0386 0.0746 0.13 0.11 0.08 0.04 0.1084 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873111 NA NA 0.133706 0.049863 NA 0.043 NA 3.621694 1290 17 18584009 18584009 T G intronic ZNF286B NA NA NA intronic ENSG00000249459 NA NA NA NA NA 17p11.2 NA NA NA NA rs112134397 0.14 0.14 0.101 0.169329 0.1153 0.0129 0.1585 0.3169 0.1943 0.11 0.02 0.16 0.29 0.1433 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34909 NA NA 0.119736 0.296965 NA 0.022 NA 3.621664 1290 8 30854033 30854033 A G UTR3 PURG NM_001015508:c.*76T>C NA NA UTR3 ENSG00000172733 ENST00000339382:c.*76T>C NA NA NA NA 8p12 NA NA NA NA rs2725371 0.83 0.83 0.826 0.800919 0.7117 0.9514 0.7867 0.9032 0.6094 0.73 0.95 0.77 0.89 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.453551 NA NA NA NA NA 0.862 NA 3.6216334 1290 16 3634746 3634746 C A intronic SLX4 NA NA NA intronic ENSG00000188827 NA NA NA NA NA 16p13.3 NA NA NA NA rs12933120 0.07 0.07 0.066 0.0621006 0.1382 0.0099 0.0764 0.0045 0.1053 0.15 NA 0.09 0.0041 0.1015 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744012 NA NA 0.138721 0.021165 NA 0.058 NA 3.621579 1290 2 219609995 219609995 G C intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA Name=Max,c-Myc,Pol2,eGFP-JunD NA NA rs2272190 0.42 0.42 0.409 0.410743 0.4662 0.1409 0.4222 0.6286 0.3292 0.46 0.16 0.42 0.66 0.4412 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651147 NA NA 0.471279 0.607354 NA 0.536 NA 3.621321 1290 1 86954591 86954591 T C intronic CLCA1 NA NA NA intronic ENSG00000016490 NA NA NA NA NA 1p22.3 NA NA NA NA rs2075632 0.24 0.24 0.229 0.231829 0.3787 0.0942 0.353 0.1362 0.2658 0.38 0.09 0.34 0.14 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375038 NA NA NA NA NA 0.268 NA 3.6213 1290 1 89427252 89427252 G A intronic CCBL2 NA NA NA intronic ENSG00000137944 NA NA NA NA NA 1p22.2 NA NA NA NA rs10922530 0.32 0.32 0.303 0.275759 0.3787 0.3403 0.4337 0.1157 0.2076 0.35 0.37 0.38 0.15 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139447 NA NA NA NA NA 0.304 NA 3.6213 1290 1 207857158 207857158 T C intronic CR1L NA NA NA intronic ENSG00000197721 NA NA NA NA NA 1q32.2 NA NA NA NA rs12411037 0.32 0.32 0.283 0.297923 0.3787 0.3383 0.2925 0.1906 0.3221 0.38 0.3 0.33 0.22 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383123 NA NA NA NA NA 0.217 NA 3.6213 1290 5 170159997 170159997 C T intronic KCNIP1 NA NA NA intronic ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs17650650 0.21 0.21 0.181 0.173922 0.3787 0.0486 0.2882 0.0461 0.184 0.38 0.04 0.35 0.05 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129235 NA NA NA NA NA 0.225 NA 3.6213 1290 7 128414484 128414484 T C intronic OPN1SW NA NA NA intronic ENSG00000128617 NA NA NA NA NA 7q32.1 NA NA NA NA rs17397588 0.21 0.21 0.207 0.178914 0.3787 0.0575 0.2277 0.112 0.1544 0.37 0.05 0.27 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252008 NA NA NA NA NA 0.232 NA 3.6213 1290 9 139286844 139286844 G C intronic SNAPC4 NA NA NA intronic ENSG00000165684 NA NA NA NA NA 9q34.3 NA NA NA NA rs10747031 0.24 0.24 0.238 0.225639 0.3787 0.0476 0.3905 0.146 0.2423 0.37 0.07 0.35 0.15 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731617 NA NA NA NA NA 0.246 NA 3.6213 1290 17 38179290 38179290 G A intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA NA NA rs4794824 0.37 0.37 0.335 0.359824 0.3787 0.4325 0.3343 0.3661 0.2751 0.38 0.42 0.34 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969068 NA NA NA NA NA 0.297 NA 3.6213 1290 17 65026515 65026515 A G intronic CACNG4 NA NA NA intronic ENSG00000075461 NA NA NA NA NA 17q24.2 NA NA NA NA rs2240648 0.46 0.46 0.453 0.472644 0.3787 0.6835 0.4625 0.388 0.4734 0.37 0.71 0.43 0.33 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099934 NA NA NA NA NA 0.442 NA 3.6213 1290 19 9014456 9014456 G A intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs12460359 0.32 0.32 0.268 0.313299 0.3787 0.3075 0.3516 0.2126 0.3609 0.37 0.28 0.36 0.23 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508273 NA NA NA NA NA 0.268 NA 3.6213 1290 5 74134742 74134742 T C intronic FAM169A NA NA NA intronic ENSG00000198780 NA NA NA NA NA 5q13.3 NA NA NA NA rs16872323 0.13 0.13 0.131 0.131589 0.1352 0.0208 0.1124 0.261 0.0808 0.11 0.02 0.13 0.27 0.1201 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.00746 3.00746 NA 0.123655 0.241333 NA 0.174 NA 3.621045 1290 6 29575003 29575003 G A intronic GABBR1 NA NA NA intronic ENSG00000204681 NA NA NA NA NA 6p22.1 NA NA NA NA rs29267 0.14 0.14 0.107 0.183906 0.1054 0.25 0.1628 0.1051 0.318 0.11 0.23 0.11 0.11 0.1468 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563865 NA NA 0.127093 0.109169 NA 0.159 NA 3.620707 1290 17 31107845 31107845 A G intronic MYO1D NA NA NA intronic ENSG00000176658 NA NA NA NA NA 17q11.2 NA NA Name=8 NA rs10512439 0.5 0.5 0.51 0.491414 0.4503 0.7242 0.4467 0.3646 0.4969 0.46 0.72 0.42 0.38 0.4875 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757753 NA NA 0.441744 0.361717 NA 0.486 NA 3.620456 1290 8 38027483 38027483 G C intronic LSM1 NA NA NA intronic ENSG00000175324 NA NA NA NA NA 8p11.23 NA NA NA NA rs3015656 0.11 0.11 0.094 0.107228 0.1342 0.1448 0.1196 0.0083 0.1656 0.13 0.15 0.12 0.0041 0.1192 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188058 NA NA 0.126163 0.025647 NA 0.058 NA 3.620437 1290 2 207025444 207025444 T C intronic EEF1B2 NA NA NA intronic ENSG00000114942 NA NA NA NA NA 2q33.3 NA Name=Pol2 NA NA rs11689362 0.47 0.47 0.448 0.460264 0.4781 0.2569 0.5648 0.6483 0.3231 0.48 0.25 0.57 0.62 0.4556 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745209 NA NA 0.44593 0.638221 NA 0.464 NA 3.62037 1290 2 11742458 11742458 A G intronic GREB1 NA NA NA intronic ENSG00000196208 NA NA NA NA NA 2p25.1 NA NA NA NA rs72772088 0.33 0.33 0.29 0.3127 0.3797 0.4246 0.4395 0.0371 0.411 0.36 0.46 0.45 0.06 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031367 NA NA NA NA NA 0.377 NA 3.6203 1290 4 36122737 36122737 A T intronic ARAP2 NA NA NA intronic ENSG00000047365 NA NA NA NA NA 4p14 NA NA NA NA rs4832795 0.33 0.33 0.302 0.322883 0.3797 0.4534 0.3545 0.0832 0.4315 0.4 0.46 0.35 0.07 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062399 NA NA NA NA NA 0.283 NA 3.6203 1290 5 13776487 13776487 C T intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs34413787 0.31 0.31 0.303 0.279353 0.3797 0.3353 0.3314 0.1694 0.2301 0.38 0.33 0.3 0.2 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.010317 2.010317 NA NA NA NA 0.29 NA 3.6203 1290 14 20869819 20869819 A T intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs2297612 0.25 0.25 0.234 0.217252 0.3797 0.1349 0.304 0.0938 0.2403 0.38 0.14 0.33 0.11 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.040204 NA NA NA NA NA 0.333 NA 3.6203 1290 18 33722425 33722425 A G intronic ELP2 NA NA NA intronic ENSG00000134759 NA NA NA NA NA 18q12.2 NA NA NA NA rs1789549 0.35 0.35 0.329 0.320687 0.3797 0.2014 0.3847 0.382 0.2546 0.4 0.19 0.43 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054155 NA NA NA NA NA 0.326 NA 3.6203 1290 1 151801951 151801951 G A intronic RORC NA NA NA intronic ENSG00000143365 NA NA NA NA NA 1q21.3 NA NA NA NA rs4845606 0.15 0.15 0.118 0.147963 0.1183 0.1488 0.232 0.1354 0.135 0.13 0.15 0.22 0.14 0.1443 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.55373 1.55373 NA 0.117326 0.133 NA 0.225 NA 3.620074 1290 13 111176616 111176616 G T intronic RAB20 NA NA NA intronic ENSG00000139832 NA NA NA NA NA 13q34 NA NA NA NA rs1062004 0.35 0.35 0.313 0.33766 0.3807 0.2837 0.4265 0.3169 0.3139 0.37 0.29 0.42 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244514 NA NA NA NA NA 0.42 NA 3.6193 1290 14 92627668 92627668 T A intronic CPSF2 NA NA NA intronic ENSG00000165934 NA NA NA NA NA 14q32.12 NA NA NA NA rs2025071 0.64 0.64 0.651 0.656749 0.3807 0.9812 0.5144 0.7201 0.6217 0.38 0.98 0.49 0.76 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.286365 2.286365 NA NA NA NA 0.609 NA 3.6193 1290 20 57572614 57572614 T C intronic CTSZ NA NA NA intronic ENSG00000101160 NA NA NA NA NA 20q13.32 NA Name=Pol2 NA NA rs417847 0.46 0.46 0.425 0.447484 0.4642 0.623 0.438 0.2761 0.4877 0.46 0.62 0.45 0.27 0.4505 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534801 NA NA 0.466279 0.324784 NA 0.406 NA 3.619021 1290 12 52755341 52755341 T C intronic KRT85 NA NA NA intronic ENSG00000135443 NA NA NA NA NA 12q13.13 NA NA NA NA rs2298796 0.25 0.25 0.229 0.21266 0.1849 0.5198 0.2118 0.0272 0.1759 0.2 0.53 0.23 0.03 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978086 NA NA 0.196103 0.043353 NA 0.094 NA 3.618997 1290 1 160109788 160109788 C T intronic ATP1A2 NA NA NA intronic ENSG00000018625 NA NA NA NA NA 1q23.2 NA NA NA NA rs41288127 0.1 0.1 0.089 0.095647 0.1173 0.0645 0.1282 0.0991 0.0777 0.12 0.05 0.12 0.09 0.1295 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220679 NA NA 0.134302 0.111212 NA 0.181 NA 3.618898 1290 18 12329536 12329536 C G UTR3 AFG3L2 NM_006796:c.*28G>C NA NA UTR3 ENSG00000141385,ENSG00000176014 ENST00000269143:c.*28G>C;ENST00000591909:c.*354C>G NA NA NA NA 18p11.21 NA NA NA NA rs1129115 0.32 0.32 0.31 0.335863 0.2336 0.375 0.4092 0.4342 0.2157 0.23 0.35 0.38 0.39 0.2631 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093588 NA NA 0.218023 0.392646 NA 0.37 NA 3.6186104 1290 1 160109656 160109656 G C intronic ATP1A2 NA NA NA intronic ENSG00000018625 NA NA NA NA NA 1q23.2 NA NA NA NA rs17846718 0.1 0.1 0.095 0.0960463 0.1173 0.0655 0.1297 0.0991 0.0777 0.12 0.05 0.12 0.09 0.1296 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809041 NA NA 0.134535 0.111439 NA 0.181 NA 3.618565 1290 1 152538358 152538358 G C UTR3 LCE3E NM_178435:c.*48C>G NA NA UTR3 ENSG00000185966 ENST00000368789:c.*48C>G NA NA NA NA 1q21.3 NA NA NA NA rs17659359 0.25 0.25 0.217 0.258586 0.2187 0.244 0.3343 0.2141 0.3211 0.22 0.27 0.3 0.23 0.265 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359524 NA NA 0.231091 0.210036 NA 0.203 NA 3.6185424 1290 4 183950033 183950033 T C intergenic DCTD,FAM92A1P2 dist=111403;dist=8785 NA NA ncRNA_exonic ENSG00000250636 NA NA NA NA NA 4q35.1 NA NA NA NA rs2714534 0.37 0.37 0.336 0.365016 0.3817 0.3522 0.4193 0.2474 0.4816 0.41 0.39 0.36 0.27 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204213 NA NA NA NA NA 0.399 NA 3.6183 1290 8 142160829 142160829 T G intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA NA 8q24.3 NA NA NA NA rs35212078 0.29 0.29 0.277 0.26877 0.3817 0.1994 0.2378 0.2511 0.2699 0.39 0.21 0.26 0.26 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768643 NA NA NA NA NA 0.21 NA 3.6183 1290 12 8203273 8203273 T G intronic FOXJ2 NA NA NA intronic ENSG00000065970 NA NA NA NA NA 12p13.31 NA NA NA NA rs17801353 0.25 0.25 0.235 0.218251 0.3817 0.1389 0.2147 0.1104 0.2802 0.39 0.16 0.26 0.13 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060728 NA NA NA NA NA 0.312 NA 3.6183 1290 12 66933149 66933149 C T intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA NA NA NA rs10219689 0.46 0.46 0.47 0.473243 0.3817 0.502 0.4697 0.4924 0.5143 0.38 0.49 0.48 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496762 NA NA NA NA NA 0.442 NA 3.6183 1290 12 133352702 133352702 A C intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs72624270 0.27 0.27 0.229 0.235423 0.3817 0.3185 0.1888 0.0605 0.2689 0.39 0.31 0.2 0.08 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760869 NA NA NA NA NA 0.203 NA 3.6183 1290 1 160109636 160109636 C G intronic ATP1A2 NA NA NA intronic ENSG00000018625 NA NA NA NA NA 1q23.2 NA NA NA NA rs17846717 0.1 0.1 0.087 0.096246 0.1173 0.0665 0.1297 0.0991 0.0777 0.12 0.06 0.12 0.09 0.1297 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207668 NA NA 0.134767 0.111439 NA 0.188 NA 3.618233 1290 2 210882171 210882171 A T intronic RPE NA NA NA intronic ENSG00000197713 NA NA NA Score=243;Name=lod=13 NA 2q34 NA NA NA NA rs2075116 0.4 0.4 0.354 0.38139 0.4821 0.4752 0.5202 0.0711 0.502 0.49 0.49 0.47 0.1 0.4496 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.92122 2.92122 NA 0.450116 0.143214 NA 0.312 NA 3.618184 1290 13 34409603 34409603 T G intronic RFC3 NA NA NA intronic ENSG00000133119 NA NA NA NA NA 13q13.2 NA NA NA NA rs3135629 0.28 0.28 0.295 0.307109 0.0875 0.3363 0.3415 0.4735 0.2536 0.09 0.36 0.31 0.48 0.2085 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167771 NA NA 0.085886 0.437785 NA 0.203 NA 3.618114 1290 7 142168429 142168429 A G intergenic LOC730441,MTRNR2L6 dist=196361;dist=205702 NA NA exonic ENSG00000230099 NA synonymous SNV ENSG00000230099:ENST00000454561:exon2:c.T294C:p.N98N NA NA 7q34 NA NA Name=17 NA rs55634899 0.91 0.91 0.927 0.993011 1 1 0.9971 0.975 1 0.91 0.94 0.9 0.87 0.882 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131407 NA NA NA NA NA 0.899 NA 3.618 1290 21 22910116 22910116 C T intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA Name=Longevity 21q21.1 NA NA NA NA rs2826891 0.41 0.41 0.379 0.388778 0.4732 0.1736 0.4568 0.5287 0.2863 0.48 0.19 0.52 0.47 0.4345 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186633 NA NA 0.474372 0.492183 NA 0.319 NA 3.617928 1290 8 17199033 17199033 G A intronic MTMR7 NA NA NA intronic ENSG00000003987 NA NA NA NA NA 8p22 NA NA NA NA rs4921757 0.07 0.07 0.044 0.04373 0.1461 0.002 0.062 0.0076 0.0174 0.15 0.0035 0.07 0.01 0.0945 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753079 NA NA 0.141628 0.029732 NA 0.08 NA 3.617772 1290 2 74595014 74595014 G A intronic DCTN1 NA NA NA intronic ENSG00000204843 NA NA NA NA NA 2p13.1 NA NA NA NA rs909177 0.2 0.2 0.213 0.199681 0.1223 0.4256 0.1311 0.112 0.2137 0.12 0.45 0.14 0.09 0.1446 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621487 NA NA 0.115581 0.11507 NA 0.145 NA 3.617519 1290 3 54615971 54615971 A G intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA NA NA 3p14.3 NA NA NA NA rs6782115 0.36 0.36 0.366 0.352436 0.3827 0.2758 0.4654 0.4304 0.2147 0.39 0.27 0.45 0.37 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857677 NA NA NA NA NA 0.442 NA 3.6173 1290 8 99019930 99019930 G A intronic MATN2 NA NA NA intronic ENSG00000132561 NA NA NA NA NA 8q22.2 NA NA NA NA rs11775531 0.2 0.2 0.187 0.160343 0.3827 0.002 0.2176 0.1225 0.1053 0.39 0.0017 0.26 0.11 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856285 NA NA NA NA NA 0.181 NA 3.6173 1290 17 2883500 2883500 A G intronic RAP1GAP2 NA NA NA intronic ENSG00000132359 NA NA NA NA NA 17p13.3 NA NA NA NA rs4790400 0.45 0.45 0.444 0.440495 0.3827 0.4415 0.3963 0.6301 0.274 0.37 0.41 0.4 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511074 NA NA NA NA NA 0.442 NA 3.6173 1290 20 4843370 4843370 C T intronic SLC23A2 NA NA NA intronic ENSG00000089057 NA NA NA NA NA 20p13 NA NA NA NA rs3737321 0.46 0.46 0.495 0.496006 0.3827 0.244 0.3746 0.9228 0.3814 0.38 0.23 0.38 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094698 NA NA NA NA NA 0.529 NA 3.6173 1290 1 203817549 203817549 T C intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs12086293 0.09 0.09 0.083 0.0872604 0.1282 0.0357 0.0562 0.112 0.0869 0.13 0.04 0.08 0.08 0.1179 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249238 NA NA 0.137125 0.125057 ID=COSN163398;OCCURENCE=1(breast) 0.058 NA 3.616775 1290 8 136659195 136659195 C T intronic KHDRBS3 NA NA NA intronic ENSG00000131773 NA NA NA NA NA 8q24.23 NA NA Name=34 NA rs28621864 0.38 0.38 0.319 0.389776 0.4592 0.4524 0.4611 0.1377 0.544 0.46 0.43 0.48 0.13 0.4596 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.130181 NA NA 0.464535 0.201997 NA 0.239 NA 3.616665 1290 19 43375870 43375870 G T intronic PSG1 NA NA NA intronic ENSG00000231924 NA NA NA NA NA 19q13.2 NA NA NA NA rs28579274 0.2 0.2 0.144 0.252596 0.0994 0.4147 0.1816 0.1944 0.3722 0.1 0.4 0.12 0.17 0.1837 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240448 NA NA 0.100256 0.162881 NA 0.181 NA 3.616644 1290 2 44123759 44123759 G A intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs3795859 0.18 0.18 0.159 0.205072 0.1133 0.4573 0.1873 0.0061 0.3211 0.11 0.44 0.15 0.01 0.1599 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.85787 NA NA 0.110465 0.027236 NA 0.174 NA 3.616335 1290 3 38812708 38812708 C T intronic SCN10A NA NA NA intronic ENSG00000185313 NA NA NA NA NA 3p22.2 NA NA NA NA rs4420804 0.39 0.39 0.377 0.416334 0.3837 0.3085 0.5043 0.4629 0.4356 0.38 0.29 0.47 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54783 NA NA NA NA NA 0.435 NA 3.6163 1290 7 16890344 16890344 T A intergenic AGR2,AGR3 dist=45606;dist=8686 NA NA ncRNA_exonic ENSG00000270593 NA NA NA NA NA 7p21.1 NA NA NA NA rs11769432 0.44 0.44 0.44 0.482029 0.3837 0.4206 0.3501 0.6316 0.5378 0.37 0.44 0.35 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215698 NA NA NA NA NA 0.493 NA 3.6163 1290 8 20068619 20068619 A G intronic ATP6V1B2 NA NA NA intronic ENSG00000147416 NA NA NA NA NA 8p21.3 NA NA NA NA rs9325865 0.43 0.43 0.403 0.430511 0.3837 0.6538 0.4308 0.2814 0.4499 0.39 0.64 0.45 0.25 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390255 NA NA NA NA NA 0.493 NA 3.6163 1290 15 41828571 41828571 A T intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2297383 0.28 0.28 0.264 0.276158 0.3837 0.1746 0.4236 0.1604 0.3221 0.39 0.16 0.41 0.17 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143087 NA NA NA NA NA 0.246 NA 3.6163 1290 22 20127554 20127554 A G intronic ZDHHC8 NA NA NA intronic ENSG00000099904 NA NA NA NA NA 22q11.21 NA NA NA NA rs175174 0.49 0.49 0.464 0.520567 0.3837 0.6895 0.5403 0.4864 0.5194 0.38 0.66 0.49 0.48 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223903 NA NA NA NA NA 0.341 NA 3.6163 1290 14 22392626 22392626 A C intergenic OR4E2,DAD1 dist=258388;dist=641181 NA NA exonic ENSG00000211792 NA nonsynonymous SNV ENSG00000211792:ENST00000390440:exon2:c.A149C:p.Q50P NA NA 14q11.2 NA NA NA NA rs10140810 0.48 0.48 0.492 0.465455 0.3956 0.504 0.513 0.5083 0.4059 0.41 0.55 0.46 0.51 0.4268 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479243 NA 0.22 0.39514 0.467339 NA 0.529 NA 3.6157934 1290 4 172035317 172035317 A C intergenic LOC100506122,GALNTL6 dist=55006;dist=699258 NA NA ncRNA_exonic ENSG00000249525 NA NA NA NA NA 4q34.1 NA NA NA NA rs1396232 0.47 0.47 0.474 0.505591 0.3847 0.4216 0.5591 0.6657 0.4622 0.39 0.4 0.55 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176293 NA NA NA NA NA 0.623 NA 3.6153 1290 6 33232055 33232055 G A intronic VPS52 NA NA NA intronic ENSG00000223501 NA NA NA NA NA 6p21.32 NA NA NA NA rs213202 0.4 0.4 0.425 0.411741 0.3847 0.5794 0.379 0.3321 0.3978 0.37 0.61 0.32 0.26 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575625 NA NA NA NA NA 0.37 NA 3.6153 1290 10 21108247 21108247 C T intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 NA NA NA NA rs1006362 0.52 0.52 0.532 0.553115 0.3847 0.6369 0.3689 0.6884 0.5879 0.36 0.66 0.43 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500019 NA NA NA NA NA 0.522 NA 3.6153 1290 10 23393226 23393226 C G intronic MSRB2 NA NA NA intronic ENSG00000148450 NA NA NA NA NA 10p12.2 NA NA NA NA rs1555805 0.39 0.39 0.378 0.411142 0.3847 0.3502 0.3746 0.5061 0.3988 0.41 0.31 0.38 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820753 NA NA NA NA NA 0.406 NA 3.6153 1290 12 9095226 9095226 T C intronic M6PR NA NA NA intronic ENSG00000003056 NA NA NA NA NA 12p13.31 NA NA NA NA rs1805731 0.27 0.27 0.242 0.274561 0.3847 0.0397 0.4395 0.2776 0.2822 0.37 0.02 0.45 0.28 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.99731 NA NA NA NA NA 0.232 NA 3.6153 1290 16 74660174 74660174 G A intronic RFWD3 NA NA NA intronic ENSG00000168411 NA NA NA NA NA 16q23.1 NA NA NA NA rs12933037 0.41 0.41 0.419 0.382188 0.3847 0.4603 0.2651 0.5008 0.2219 0.38 0.43 0.3 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324156 NA NA NA NA NA 0.435 NA 3.6153 1290 16 84472972 84472972 G A intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs247905 0.34 0.34 0.309 0.303914 0.3847 0.3472 0.2983 0.2209 0.2924 0.39 0.35 0.33 0.27 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083957 NA NA NA NA ID=COSN165276;OCCURENCE=1(breast) 0.326 NA 3.6153 1290 19 50493120 50493120 T C intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs283517 0.62 0.62 0.646 0.652157 0.3847 0.8026 0.5504 0.8253 0.6104 0.37 0.8 0.57 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439573 NA NA NA NA NA 0.558 NA 3.6153 1290 16 1825774 1825774 T C intronic EME2 NA NA NA intronic ENSG00000197774 NA NA NA NA NA 16p13.3 NA NA NA NA rs13339350 0.16 0.16 0.134 0.155751 0.1272 0.252 0.0951 0.062 0.2556 0.13 0.28 0.13 0.07 0.1412 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344834 NA NA 0.116395 0.053433 NA 0.094 NA 3.615205 1290 5 5186416 5186416 T G intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs62339905 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949098 NA NA NA NA NA 0.746 NA 3.615 1291 4 37848530 37848530 T G intronic PGM2 NA NA NA intronic ENSG00000169299 NA NA NA NA NA 4p14 NA NA NA NA rs6814767 0.21 0.21 NA 0.217851 0.1948 0.1081 0.147 0.4448 0.0982 0.19 0.12 0.14 0.39 0.1904 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707794 NA NA NA NA NA 0.254 NA 3.6148 1291 11 6424856 6424856 C T intronic APBB1 NA NA NA intronic ENSG00000166313 NA NA NA NA NA 11p15.4 NA NA NA NA rs2682093 0.13 0.13 0.127 0.157748 0.1173 0.005 0.0994 0.329 0.1667 0.1 0.0035 0.11 0.34 0.1358 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04494 NA NA 0.132216 0.2801 NA 0.159 NA 3.614684 1291 2 197594203 197594203 G C intronic CCDC150 NA NA NA UTR3 ENSG00000144395 ENST00000424427:c.*734G>C,ENST00000448409:c.*50G>C NA NA NA NA 2q33.1 NA Name=p300,HDAC2_(SC-6296),SP1,HNF4A,FOSL2 NA NA rs2577580 0.84 0.84 0.82 0.828275 0.7584 0.9702 0.8487 0.7458 0.8507 0.77 0.98 0.83 0.78 0.7936 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803043 NA NA NA NA NA 0.79 NA 3.6146667 1291 11 6630410 6630410 T C intronic ILK NA NA NA ncRNA_intronic ENSG00000254641 NA NA NA NA NA 11p15.4 NA NA NA NA rs11826498 0.15 0.15 0.123 0.120807 0.2565 0.0804 0.183 0.0204 0.1145 0.26 0.09 0.19 0.03 0.2074 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.923786 1.923786 NA 0.254772 0.058383 NA 0.152 NA 3.6146613 1291 4 146048554 146048554 T C intronic ABCE1 NA NA NA intronic ENSG00000164163 NA NA NA NA NA 4q31.21 NA NA NA NA rs4148234 0.23 0.23 0.209 0.201677 0.3857 0.1349 0.3141 0.0159 0.2526 0.38 0.17 0.29 0.02 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807101 NA NA NA NA NA 0.246 NA 3.6143 1291 8 61300510 61300510 T C intergenic CA8,RAB2A dist=106556;dist=128959 NA NA ncRNA_exonic ENSG00000226301 NA NA NA NA NA 8q12.1 NA NA NA NA rs10957133 0.56 0.56 0.581 0.598043 0.3857 0.5694 0.4654 0.9266 0.4959 0.38 0.53 0.51 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176749 NA NA NA NA NA 0.594 NA 3.6143 1291 12 9085099 9085099 G A intronic PHC1 NA NA NA intronic ENSG00000111752 NA NA NA NA NA 12p13.31 NA NA NA NA rs887783 0.28 0.28 0.24 0.287141 0.3857 0.0407 0.4481 0.3207 0.2802 0.37 0.02 0.46 0.31 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207508 NA NA NA NA NA 0.217 NA 3.6143 1291 15 42364724 42364724 A G intronic PLA2G4D NA NA NA intronic ENSG00000159337 NA NA NA NA NA 15q15.1 NA NA NA NA rs1668585 0.38 0.38 0.391 0.385383 0.3857 0.3958 0.2839 0.4365 0.3773 0.37 0.39 0.29 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429954 NA NA NA NA NA 0.457 NA 3.6143 1291 22 18304695 18304695 A G intronic MICAL3 NA NA NA intronic ENSG00000243156 NA NA NA NA NA 22q11.21 NA NA NA NA rs5992112 0.39 0.39 0.382 0.386382 0.3857 0.1736 0.2695 0.6876 0.2822 0.38 0.18 0.3 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441831 NA NA NA NA NA 0.507 NA 3.6143 1291 22 37707962 37707962 C T intronic CYTH4 NA NA NA intronic ENSG00000100055 NA NA NA NA NA 22q13.1 NA NA NA NA rs2269591 0.39 0.39 0.364 0.437101 0.3857 0.5546 0.3458 0.2352 0.7065 0.39 0.55 0.35 0.24 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465568 NA NA NA NA NA 0.217 NA 3.6143 1291 22 38481516 38481516 G A intronic BAIAP2L2 NA NA NA intronic ENSG00000128298 NA NA NA NA NA 22q13.1 NA NA NA NA rs9610902 0.35 0.35 0.314 0.364018 0.3857 0.4256 0.4524 0.121 0.544 0.38 0.41 0.48 0.14 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508145 NA NA NA NA NA 0.457 NA 3.6143 1291 4 102992517 102992517 T C intronic BANK1 NA NA NA intronic ENSG00000153064 NA NA NA NA NA 4q24 NA NA NA NA rs34184671 0.25 0.25 0.208 0.247005 0.1918 0.2748 0.3314 0.2738 0.1789 0.18 0.28 0.3 0.27 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24111 NA NA 0.193955 0.263728 NA 0.326 NA 3.614245 1291 8 72938357 72938357 A C ncRNA_intronic LOC100132891 NA NA NA intronic ENSG00000104321,ENSG00000235531 NA NA NA NA NA 8q13.3 NA NA NA NA rs2305018 0.25 0.25 0.225 0.210064 0.2286 0.3413 0.2666 0.1256 0.1299 0.25 0.37 0.26 0.12 0.2463 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515157 NA NA 0.244359 0.159782 NA 0.232 NA 3.6140743 1291 21 46047925 46047925 G T exonic KRTAP10-9 NA synonymous SNV KRTAP10-9:NM_198690:exon1:c.G837T:p.P279P exonic ENSG00000221837 NA synonymous SNV ENSG00000221837:ENST00000397911:exon1:c.G837T:p.P279P NA NA 21q22.3 NA NA NA NA rs9979457 0.64 0.64 0.617 0.632788 0.7107 0.6627 0.6715 0.5212 0.6452 0.71 0.63 0.67 0.53 0.6658 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.770699 NA NA 0.676114 0.543269 NA 0.464 NA 3.6140526 1291 3 97983257 97983257 C G exonic OR5H6 NA synonymous SNV OR5H6:NM_001005479:exon1:c.C129G:p.L43L exonic ENSG00000230301 NA synonymous SNV ENSG00000230301:ENST00000383696:exon1:c.C129G:p.L43L NA NA 3q11.2 NA NA NA NA rs2132894 0.72 0.72 0.733 0.708866 0.6909 0.621 0.6268 0.885 0.638 0.69 0.68 0.59 0.89 0.681 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680448 NA NA 0.680856 0.858148 ID=COSM1179810;OCCURENCE=1(prostate) 0.696 NA 3.6139106 1291 18 56400826 56400826 T C intronic MALT1 NA NA NA ncRNA_intronic ENSG00000267476 NA NA NA NA NA 18q21.32 NA NA NA NA rs28740963 0.22 0.22 0.191 0.245008 0.2187 0.1796 0.3127 0.2413 0.2965 0.21 0.18 0.3 0.24 0.2604 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392394 1.392394 NA 0.240633 0.262835 ID=COSN165666;OCCURENCE=1(NS) 0.21 NA 3.6136003 1291 16 31283323 31283323 C G intronic ITGAM NA NA NA intronic ENSG00000169896 NA NA NA NA NA 16p11.2 NA NA NA NA rs35472514 0.08 0.08 0.079 0.121006 0.1392 0.0149 0.0951 0.1165 0.2362 0.14 0.0017 0.09 0.09 0.125 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496683 NA NA 0.122214 0.092583 NA 0.08 NA 3.613586 1291 1 203807233 203807233 T C intronic ZC3H11A NA NA NA intronic ENSG00000058673 NA NA NA NA NA 1q32.1 NA NA NA NA rs12078328 0.09 0.09 0.078 0.0870607 0.1282 0.0357 0.0562 0.1112 0.0869 0.13 0.04 0.08 0.08 0.1209 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125702 NA NA 0.137442 0.125057 ID=COSN163397;OCCURENCE=1(breast) 0.058 NA 3.613458 1291 9 137674488 137674488 G A intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs41310213 0.14 0.14 0.143 0.152955 0.1252 0.1329 0.0807 0.2806 0.0808 0.13 0.1 0.07 0.26 0.1349 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444779 NA NA 0.126512 0.256015 NA 0.232 NA 3.613388 1291 2 3502910 3502910 G T intronic ADI1 NA NA NA intronic ENSG00000182551 NA NA NA NA NA 2p25.3 NA NA NA NA rs58219575 NA NA NA 0.542732 0.3867 0.4871 0.4481 0.8525 0.409 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831337 NA NA NA NA NA NA NA 3.6133 1291 7 91659150 91659150 C G intronic AKAP9 NA NA NA intronic ENSG00000127914 NA NA NA NA NA 7q21.2 NA NA NA NA rs17164315 0.36 0.36 0.358 0.373802 0.3867 0.1617 0.3573 0.5076 0.41 0.39 0.17 0.38 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59345 NA NA NA NA NA 0.413 NA 3.6133 1291 7 91752690 91752690 C A intronic CYP51A1 NA NA NA intronic ENSG00000001630 NA NA NA NA NA 7q21.2 NA NA NA NA rs2269727 0.35 0.35 0.37 0.359824 0.3867 0.1617 0.3588 0.4539 0.41 0.39 0.17 0.38 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200204 NA NA NA NA NA 0.406 NA 3.6133 1291 8 59498614 59498614 A G intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs6995115 0.45 0.45 0.469 0.471446 0.3867 0.6022 0.2594 0.5794 0.4284 0.37 0.58 0.3 0.56 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426511 NA NA NA NA NA 0.406 NA 3.6133 1291 20 61527480 61527480 T C intronic DIDO1 NA NA NA intronic ENSG00000101191 NA NA NA NA NA 20q13.33 NA NA NA NA rs755740 0.48 0.48 0.469 0.495407 0.3867 0.627 0.5058 0.4675 0.502 0.36 0.61 0.52 0.46 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682 NA NA NA NA NA 0.391 NA 3.6133 1291 21 43710096 43710096 G T intronic ABCG1 NA NA NA intronic ENSG00000160179 NA NA NA NA NA 21q22.3 NA NA NA NA rs2234721 0.34 0.34 0.304 0.324681 0.3867 0.3353 0.3689 0.2292 0.3476 0.38 0.35 0.43 0.2 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359327 NA NA NA NA NA 0.384 NA 3.6133 1291 4 9998605 9998605 T C intronic SLC2A9 NA NA NA intronic ENSG00000109667 NA NA NA NA NA 4p16.1 NA Name=FOSL2,FOXA1_(C-20),FOXA1_(SC-101058),GR Name=43 NA rs28592748 0.84 0.84 0.845 0.820687 0.8002 0.9722 0.7219 0.7784 0.8129 0.82 0.99 0.73 0.78 0.8017 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679983 NA NA 0.785116 0.776441 NA 0.841 NA 3.612984 1291 17 39471960 39471960 G A upstream KRTAP17-1 NA NA NA upstream ENSG00000186860 NA NA NA NA NA 17q21.2 NA NA NA NA rs117338110 0.03 0.03 0.018 0.0173722 0.0537 NA 0.0418 0.0015 0.002 0.05 0.01 0.04 0.002 NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318435 NA NA NA NA NA 0.036 NA 3.6129666 1291 3 51978640 51978640 G A intronic PARP3 NA NA NA intronic ENSG00000041880 NA NA NA NA NA 3p21.2 NA NA NA NA rs4687792 0.2 0.2 0.187 0.167931 0.1123 0.4117 0.3069 0.0061 0.0941 0.12 0.43 0.28 0.01 0.1684 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067465 NA NA 0.106358 0.023843 NA 0.152 NA 3.612942 1291 5 141018454 141018454 C G intronic RELL2 NA NA NA intronic ENSG00000164620 NA NA NA NA NA 5q31.3 NA NA NA NA rs11741647 0.13 0.13 0.122 0.130391 0.1113 0.0982 0.1758 0.1172 0.1687 0.13 0.11 0.16 0.13 0.143 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.714518 NA NA 0.132791 0.120291 NA 0.101 NA 3.612909 1291 21 46047710 46047710 T C exonic KRTAP10-9 NA synonymous SNV KRTAP10-9:NM_198690:exon1:c.T622C:p.L208L exonic ENSG00000221837 NA synonymous SNV ENSG00000221837:ENST00000397911:exon1:c.T622C:p.L208L NA NA 21q22.3 NA NA NA NA rs8131142 0.65 0.65 0.588 0.648163 0.7107 0.6637 0.6787 0.5711 0.6503 0.71 0.63 0.68 0.58 0.67 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.554189 NA NA 0.67314 0.571266 NA 0.138 NA 3.6128266 1291 3 31837204 31837204 A T intronic OSBPL10 NA NA NA ncRNA_exonic ENSG00000223965 NA NA NA NA NA 3p23 NA NA NA NA rs2068100 0.78 0.78 0.773 0.788538 0.7207 0.8085 0.755 0.8729 0.7474 0.72 0.78 0.73 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630025 NA NA NA NA NA 0.862 NA 3.6126333 1291 12 992229 992229 C T intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA NA NA NA rs34032084 0.1 0.1 0.109 0.101038 0.1302 0.1091 0.0793 0.0356 0.1667 0.13 0.11 0.1 0.04 0.1183 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.353095 2.353095 NA 0.13907 0.046754 ID=COSM147389;OCCURENCE=1(stomach) 0.181 NA 3.61243 1291 3 164699998 164699998 C T intronic SI NA NA NA intronic ENSG00000090402 NA NA NA NA NA 3q26.1 NA NA NA NA rs41273561 0.18 0.18 0.2 0.192492 0.1113 0.0665 0.0908 0.4342 0.1513 0.1 0.07 0.1 0.48 0.1524 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156261 NA NA 0.123982 0.398409 NA 0.196 NA 3.612318 1291 2 113258671 113258671 G A intronic TTL NA NA NA intronic ENSG00000114999 NA NA NA NA NA 2q13 NA NA NA NA rs2438849 0.25 0.25 0.158 0.452276 0.3877 0.5476 0.3631 0.4637 0.4683 0.2 0.32 0.2 0.31 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572341 NA NA NA NA NA 0.145 NA 3.6123 1291 3 184580917 184580917 A G intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA NA NA NA rs3733165 0.56 0.56 0.556 0.588658 0.3877 0.6637 0.4726 0.7663 0.5603 0.4 0.63 0.5 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652675 NA NA NA NA NA 0.616 NA 3.6123 1291 9 130167338 130167338 C T intronic SLC2A8 NA NA NA intronic ENSG00000136856 NA NA NA NA NA 9q33.3 NA NA NA NA rs41302651 0.28 0.28 0.282 0.283347 0.3877 0.1567 0.2349 0.2632 0.3681 0.39 0.12 0.26 0.32 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077684 NA NA NA NA NA 0.21 NA 3.6123 1291 9 130167569 130167569 T C intronic SLC2A8 NA NA NA intronic ENSG00000136856 NA NA NA NA NA 9q33.3 NA NA NA NA rs3802363 0.28 0.28 0.28 0.283746 0.3877 0.1577 0.2349 0.2625 0.3701 0.39 0.12 0.26 0.32 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75775 NA NA NA NA NA 0.21 NA 3.6123 1291 10 102780265 102780265 G A intronic PDZD7 NA NA NA intronic ENSG00000186862 NA NA NA NA NA 10q24.31 NA NA NA NA rs7075659 0.22 0.22 0.169 0.205272 0.3877 0.0278 0.2983 0.1225 0.2464 0.37 0.04 0.35 0.12 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344059 NA NA NA NA NA 0.304 NA 3.6123 1291 14 107122173 107122173 G T intergenic LINC00221,NONE dist=170644;dist=NONE NA NA ncRNA_exonic ENSG00000253209 NA NA NA NA NA 14q32.33 NA NA NA NA rs4268661 0.48 0.48 0.478 0.583267 0.3877 0.5317 0.4553 0.7557 0.6953 0.34 0.46 0.46 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195619 NA NA NA NA NA 0.464 NA 3.6123 1291 14 107122186 107122186 A G intergenic LINC00221,NONE dist=170657;dist=NONE NA NA ncRNA_exonic ENSG00000253209 NA NA NA NA NA 14q32.33 NA NA NA NA rs4468504 0.51 0.51 0.468 0.583666 0.3877 0.5327 0.4553 0.7557 0.6963 0.38 0.49 0.49 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067207 NA NA NA NA NA 0.464 NA 3.6123 1291 18 75147568 75147568 A G intergenic GALR1,SALL3 dist=165472;dist=1592707 NA NA ncRNA_exonic ENSG00000264736 NA NA NA NA NA 18q23 NA NA NA NA rs8087079 0.49 0.49 0.48 0.508586 0.3877 0.4881 0.5202 0.6241 0.4898 0.39 0.53 0.5 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699074 NA NA NA NA NA 0.478 NA 3.6123 1291 18 75148016 75148016 G A intergenic GALR1,SALL3 dist=165920;dist=1592259 NA NA ncRNA_exonic ENSG00000264736 NA NA NA NA NA 18q23 NA NA NA NA rs1942596 0.5 0.5 0.482 0.519768 0.3877 0.4861 0.5288 0.6755 0.4734 0.39 0.52 0.5 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705079 NA NA NA NA NA 0.449 NA 3.6123 1291 19 39957030 39957030 C T intronic SUPT5H NA NA NA intronic ENSG00000196235 NA NA NA NA NA 19q13.2 NA NA NA NA rs4802030 0.46 0.46 0.46 0.493011 0.3877 0.4613 0.4006 0.621 0.5266 0.39 0.42 0.43 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073759 NA NA NA NA NA 0.42 NA 3.6123 1291 19 39972766 39972766 G A intronic TIMM50 NA NA NA intronic ENSG00000105197 NA NA NA NA NA 19q13.2 NA NA NA NA rs62120691 0.46 0.46 0.47 0.492812 0.3877 0.4613 0.4049 0.618 0.5266 0.39 0.42 0.44 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295987 1.295987 NA NA NA NA 0.391 NA 3.6123 1291 19 56373578 56373578 C G intronic NLRP4 NA NA NA intronic ENSG00000160505 NA NA NA NA NA 19q13.43 NA NA NA NA rs10853880 0.35 0.35 0.244 0.407748 0.3877 0.5 0.4207 0.3502 0.4018 0.3 0.5 0.33 0.25 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937645 NA NA NA NA NA NA NA 3.6123 1291 20 36989269 36989269 C T intronic LBP NA NA NA intronic ENSG00000129988 NA NA NA NA NA 20q11.23 NA NA NA NA rs1780623 0.43 0.43 0.407 0.397564 0.3877 0.6905 0.4035 0.1626 0.4192 0.38 0.73 0.42 0.17 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930339 NA NA NA NA NA 0.319 NA 3.6123 1291 7 87160561 87160561 A G intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs2032583 0.13 0.13 0.144 0.145367 0.1342 0.0694 0.1124 0.2035 0.18 0.13 0.06 0.13 0.22 0.1208 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42272 NA NA 0.132705 0.170377 NA 0.174 NA 3.612295 1291 17 30376461 30376461 G A intronic LRRC37B NA NA NA intronic ENSG00000185158 NA NA NA NA NA 17q11.2 NA NA NA NA rs2470260 NA NA 0.17 0.227636 0.1551 0.0407 0.1282 0.5257 0.1626 NA NA NA NA 0.1228 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458229 NA NA 0.109895 0.342707 NA 0.188 NA 3.612205 1291 8 139165272 139165272 T C exonic FAM135B NA synonymous SNV FAM135B:NM_015912:exon13:c.A1446G:p.P482P exonic ENSG00000147724 NA synonymous SNV ENSG00000147724:ENST00000276737:exon13:c.A1446G:p.P482P,ENSG00000147724:ENST00000395297:exon13:c.A1446G:p.P482P NA NA 8q24.23 NA NA NA NA rs7835712 0.67 0.67 0.717 0.720847 0.6869 0.7718 0.7464 0.6853 0.7331 0.62 0.72 0.67 0.7 0.7012 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114998 NA NA 0.666546 0.708897 NA 0.449 NA 3.6120206 1291 5 162910199 162910199 G C intronic HMMR NA NA NA ncRNA_exonic ENSG00000251018 NA NA NA NA NA 5q34 NA NA NA NA rs184181 0.19 0.19 0.193 0.208666 0.2535 0.0724 0.1772 0.2678 0.2454 0.25 0.05 0.2 0.24 0.2315 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.119732 NA NA 0.23656 0.268724 NA 0.225 NA 3.6117733 1291 2 207527608 207527608 T C intronic DYTN NA NA NA intronic ENSG00000232125 NA NA NA NA NA 2q33.3 NA NA NA NA rs2359680 0.1 0.1 0.092 0.0754792 0.1402 0.002 0.1066 0.1089 0.0174 0.14 0.0017 0.12 0.12 0.113 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111037 NA NA 0.135187 0.105318 NA 0.116 NA 3.611613 1291 5 96066576 96066576 C G intronic CAST NA NA NA intronic ENSG00000153113 NA NA NA NA NA 5q15 NA NA NA NA rs17400741 0.07 0.07 0.052 0.0585064 0.1451 NA 0.1066 0.0038 0.0695 0.14 NA 0.1 0.0041 0.1033 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.196293 NA NA 0.140116 0.024285 NA 0.159 NA 3.611484 1291 4 39116775 39116775 A T intronic KLHL5 NA NA NA ncRNA_intronic ENSG00000249207 NA NA NA Score=560;Name=lod=251 NA 4p14 NA NA NA NA rs10026775 0.54 0.54 0.528 0.492612 0.5765 0.495 0.5965 0.3411 0.5348 0.59 0.52 0.63 0.41 0.5596 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.981149 1.981149 NA 0.585814 0.391739 NA 0.529 NA 3.6114193 1291 2 32961691 32961691 C T intronic TTC27 NA NA NA intronic ENSG00000018699 NA NA NA NA NA 2p22.3 NA NA NA NA rs17497801 0.33 0.33 0.306 0.291134 0.3887 0.37 0.3617 0.171 0.2219 0.41 0.35 0.38 0.16 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120004 NA NA NA NA ID=COSN166059;OCCURENCE=4(breast) 0.268 NA 3.6113 1291 2 64794945 64794945 G A intronic AFTPH NA NA NA intronic ENSG00000119844 NA NA NA NA NA 2p14 NA NA NA NA rs7598893 0.3 0.3 0.299 0.323882 0.3887 0.2083 0.304 0.3185 0.3978 0.38 0.2 0.34 0.29 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.157671 NA NA NA NA NA 0.333 NA 3.6113 1291 9 71827618 71827618 T C intronic TJP2 NA NA NA intronic ENSG00000119139 NA NA NA NA NA 9q21.11 NA NA NA NA rs34883177 0.44 0.44 0.358 0.406949 0.3887 0.619 0.5821 0.1967 0.3671 0.38 0.66 0.56 0.21 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.106535 NA NA NA NA NA 0.319 NA 3.6113 1291 10 38537070 38537070 A G intergenic LOC100129055,HSD17B7P2 dist=33797;dist=108238 NA NA ncRNA_intronic ENSG00000226113 NA NA NA NA NA 10p11.1 NA NA NA NA rs1780145 0.42 0.42 0.419 0.399561 0.3887 0.5218 0.4467 0.4183 0.226 0.4 0.49 0.42 0.39 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504264 NA NA NA NA NA 0.464 NA 3.6113 1291 12 127349838 127349838 T C intergenic LOC387895,LOC440117 dist=93030;dist=4202 NA NA ncRNA_exonic ENSG00000255923 NA NA NA NA NA 12q24.32 NA NA NA NA rs11610354 0.18 0.18 0.156 0.1877 0.3887 0.001 0.232 0.0303 0.3548 0.37 NA 0.26 0.03 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.615311 NA NA NA NA NA 0.123 NA 3.6113 1291 14 93125415 93125415 G C intronic RIN3 NA NA NA intronic ENSG00000100599 NA NA NA NA NA 14q32.12 NA NA NA NA rs2295991 0.31 0.31 0.319 0.342053 0.3887 0.2073 0.2709 0.4463 0.3425 0.36 0.17 0.28 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107271 NA NA NA NA NA 0.261 NA 3.6113 1291 18 55431330 55431330 T C intronic ATP8B1 NA NA NA intronic ENSG00000081923 NA NA NA NA NA 18q21.31 NA NA NA NA rs11875119 0.36 0.36 0.316 0.361022 0.3887 0.2837 0.3847 0.3525 0.407 0.39 0.28 0.41 0.36 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024628 NA NA NA NA NA 0.29 NA 3.6113 1291 18 75148028 75148028 A C intergenic GALR1,SALL3 dist=165932;dist=1592247 NA NA ncRNA_exonic ENSG00000264736 NA NA NA NA NA 18q23 NA NA NA NA rs1942595 0.51 0.51 0.489 0.527556 0.3887 0.4881 0.5317 0.7012 0.4734 0.39 0.53 0.5 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.264202 NA NA NA NA NA 0.464 NA 3.6113 1291 6 117639419 117639419 T C intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs497186 0.1 0.1 0.093 0.0866613 0.1441 0.1032 0.098 0.0076 0.1094 0.15 0.11 0.09 0.01 0.1102 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792122 NA NA 0.134419 0.032002 NA 0.123 NA 3.611281 1291 19 43383651 43383651 C T intronic PSG1 NA NA NA intronic ENSG00000231924 NA NA NA NA NA 19q13.2 NA NA NA NA rs12463071 0.2 0.2 0.149 0.250998 0.1014 0.4187 0.1772 0.1899 0.3671 0.1 0.4 0.12 0.17 0.1831 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481608 NA NA 0.10429 0.164238 NA 0.196 NA 3.61121 1291 6 38746294 38746294 A G intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs1738259 0.32 0.32 0.305 0.328075 0.1988 0.4494 0.3991 0.3555 0.2485 0.21 0.46 0.35 0.32 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029762 NA NA 0.190101 0.312861 NA 0.406 NA 3.611099 1291 22 38075834 38075834 G A downstream LGALS1 NA NA NA downstream ENSG00000100097 NA NA NA NA NA 22q13.1 NA NA NA NA rs41283239 0.09 0.09 0.092 0.116414 0.0557 0.001 0.0677 0.2746 0.1186 0.05 NA 0.09 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.171248 NA NA NA NA NA 0.109 NA 3.6109666 1291 19 48202125 48202125 C G intronic GLTSCR1 NA NA NA ncRNA_intronic ENSG00000268746 NA NA NA NA NA 19q13.33 NA NA NA NA rs7248050 0.84 0.84 0.844 0.854633 0.7227 0.9593 0.8228 0.9312 0.8016 0.74 0.95 0.77 0.94 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656898 NA NA NA NA NA 0.899 NA 3.6106333 1291 17 33482522 33482522 G A intronic UNC45B NA NA NA intronic ENSG00000141161 NA NA NA NA NA 17q12 NA NA NA NA rs11869662 0.17 0.17 0.145 0.180711 0.1262 0.1895 0.1124 0.2753 0.1483 0.12 0.17 0.13 0.27 0.1433 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869897 NA NA 0.119884 0.21675 NA 0.196 NA 3.610616 1291 4 7668967 7668967 C T intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs13129869 0.09 0.09 0.098 0.071885 0.1402 NA 0.072 0.1051 0.0307 0.14 NA 0.08 0.12 0.1059 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292873 NA NA 0.1434 0.104556 NA 0.087 NA 3.6105 1291 2 113321900 113321900 T C intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA Name=GATA-2 NA NA rs41280572 0.33 0.33 0.308 0.328674 0.4722 0.4177 0.3761 0.0424 0.4427 0.46 0.37 0.39 0.05 0.426 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650996 NA NA 0.491395 0.118475 NA 0.399 NA 3.610405 1291 1 109714750 109714750 T C intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA NA NA rs2297758 0.48 0.48 0.491 0.522364 0.3897 0.4901 0.4438 0.6989 0.5092 0.36 0.5 0.43 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722407 NA NA NA NA NA 0.514 NA 3.6103 1291 4 184607970 184607970 T C intronic TRAPPC11 NA NA NA intronic ENSG00000168538 NA NA NA NA NA 4q35.1 NA NA NA NA rs9312316 0.49 0.49 0.482 0.488818 0.3897 0.5337 0.5187 0.6596 0.2924 0.4 0.51 0.45 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464587 NA NA NA NA NA 0.486 NA 3.6103 1291 5 6622017 6622017 T G intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs2303705 0.31 0.31 0.289 0.29373 0.3897 0.1607 0.3948 0.3434 0.1933 0.37 0.15 0.42 0.33 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546295 NA NA NA NA NA 0.449 NA 3.6103 1291 22 37708004 37708004 T C intronic CYTH4 NA NA NA intronic ENSG00000100055 NA NA NA NA NA 22q13.1 NA NA NA NA rs2269593 0.4 0.4 0.379 0.461861 0.3897 0.5952 0.3487 0.2905 0.7106 0.39 0.56 0.36 0.28 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891932 NA NA NA NA NA 0.239 NA 3.6103 1291 1 11735841 11735841 C A intronic MAD2L2 NA NA NA intronic ENSG00000116670 NA NA NA NA NA 1p36.22 NA NA NA NA rs2233024 0.14 0.14 0.107 0.151957 0.1899 0.1488 0.196 0.0537 0.2178 0.19 0.13 0.2 0.04 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.13331 3.13331 NA 0.2 0.083092 NA 0.167 NA 3.6101 1291 2 20192931 20192931 G A intronic MATN3 NA NA NA ncRNA_intronic ENSG00000227210 NA NA NA NA NA 2p24.1 NA NA NA NA rs35973216 0.25 0.25 0.266 0.227835 0.2237 0.2252 0.2262 0.261 0.1912 0.23 0.26 0.22 0.28 0.2489 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379921 NA NA 0.250673 0.238618 NA 0.152 NA 3.6100603 1291 11 18456511 18456511 G A intronic LDHC NA NA NA intronic ENSG00000166796 NA NA NA NA NA 11p15.1 NA NA NA NA rs73438666 0.14 0.14 0.147 0.140775 0.1252 0.0635 0.1556 0.2451 0.0849 0.11 0.05 0.15 0.28 0.1306 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351967 NA NA 0.134382 0.218693 NA 0.101 NA 3.609818 1291 5 52235854 52235854 T A intronic ITGA1 NA NA NA ncRNA_intronic ENSG00000249899 NA NA NA NA NA 5q11.2 NA NA NA NA rs2447874 0.7 0.7 0.714 0.686901 0.7237 0.7014 0.67 0.6649 0.6759 0.73 0.69 0.67 0.7 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005246 NA NA NA NA NA 0.645 NA 3.6096333 1291 12 133433300 133433300 C T intronic CHFR NA NA NA intronic ENSG00000072609 NA NA NA NA NA 12q24.33 NA NA NA NA rs11147111 0.14 0.14 0.116 0.143171 0.2008 0.1171 0.255 0.0091 0.2127 0.21 0.1 0.23 0.01 0.1896 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167967 NA NA NA NA NA 0.065 NA 3.6096 1291 12 56814563 56814563 G A intronic TIMELESS NA NA NA intronic ENSG00000111602 NA NA NA NA NA 12q13.3 NA NA NA NA rs66491720 0.07 0.07 0.054 0.0467252 0.1481 NA 0.0663 0.0045 0.0337 0.15 NA 0.08 0.01 0.1028 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132175 NA NA 0.139535 0.029278 NA 0.203 NA 3.609565 1291 3 64145493 64145493 G A intronic PRICKLE2 NA NA NA intronic ENSG00000163637 NA NA NA NA NA 3p14.1 NA NA NA NA rs11720610 0.31 0.31 0.29 0.300519 0.3907 0.2351 0.2104 0.3207 0.3119 0.39 0.2 0.25 0.35 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020811 NA NA NA NA NA 0.341 NA 3.6093 1291 5 76259350 76259350 T C intronic CRHBP NA NA NA intronic ENSG00000145708 NA NA NA NA NA 5q13.3 NA NA NA NA rs7728378 0.53 0.53 0.55 0.546326 0.3907 0.5347 0.3847 0.826 0.455 0.39 0.54 0.42 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868954 NA NA NA NA NA 0.565 NA 3.6093 1291 11 124386739 124386739 T C intergenic OR8B8,OR8B12 dist=75758;dist=25879 NA NA ncRNA_exonic ENSG00000254646 NA NA NA NA NA 11q24.2 NA NA NA NA rs10893236 0.54 0.54 0.455 0.502995 0.3907 0.6915 0.5821 0.5408 0.317 0.39 0.69 0.57 0.56 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850095 NA NA NA NA NA 0.37 NA 3.6093 1291 12 6619054 6619054 T C intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs7298053 0.32 0.32 0.273 0.30631 0.3907 0.3413 0.3401 0.1392 0.3855 0.39 0.34 0.39 0.14 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83254 NA NA NA NA NA 0.268 NA 3.6093 1291 14 21468955 21468955 T C intronic SLC39A2 NA NA NA intronic ENSG00000165794 NA NA NA NA NA 14q11.2 NA NA NA NA rs12886630 0.47 0.47 0.449 0.484824 0.3907 0.374 0.5663 0.6581 0.4039 0.38 0.38 0.53 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560454 NA NA NA NA NA 0.558 NA 3.6093 1291 14 55241941 55241941 G C intronic SAMD4A NA NA NA intronic ENSG00000020577 NA NA NA NA NA 14q22.2 NA NA NA NA rs2295824 0.34 0.34 0.324 0.363818 0.3907 0.3363 0.33 0.2595 0.5297 0.38 0.36 0.32 0.28 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644551 NA NA NA NA NA 0.217 NA 3.6093 1291 15 25414437 25414437 G A intergenic PAR1,SNORD115-1 dist=31237;dist=1433 NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs2714732 0.39 0.39 0.334 0.370008 0.3907 0.5089 0.4971 0.093 0.4898 0.39 0.53 0.51 0.12 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083432 NA NA NA NA NA 0.355 NA 3.6093 1291 15 25414653 25414653 C T intergenic PAR1,SNORD115-1 dist=31453;dist=1217 NA NA ncRNA_exonic ENSG00000270814 NA NA NA NA NA 15q11.2 NA NA NA NA rs2739833 0.44 0.44 0.4 0.41873 0.3907 0.6081 0.5086 0.1936 0.4928 0.39 0.64 0.52 0.21 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090331 NA NA NA NA NA 0.399 NA 3.6093 1291 16 55862901 55862901 T G intronic CES1 NA NA NA intronic ENSG00000198848 NA NA NA NA NA 16q12.2 NA NA NA NA rs3826189 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA 0.3908 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.789799 NA NA NA NA NA 0.007 NA 3.6092 1291 3 14768534 14768534 A G intronic C3orf20 NA NA NA intronic ENSG00000131379 NA NA NA Score=346;Name=lod=34 NA 3p25.1 NA NA NA NA rs7636830 0.42 0.42 0.402 0.411941 0.4702 0.4048 0.3905 0.3495 0.4591 0.47 0.41 0.43 0.37 0.4541 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012036 NA NA 0.467093 0.358829 NA 0.304 NA 3.608607 1291 13 114537517 114537517 C T ncRNA_intronic GAS6-AS1 NA NA NA ncRNA_intronic ENSG00000233695 NA NA NA NA NA 13q34 NA NA NA NA rs8191974 0.27 0.27 0.291 0.247804 0.3549 0.1796 0.3458 0.2088 0.1912 0.35 0.18 0.32 0.22 0.4005 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351008 NA NA 0.302693 0.216442 NA 0.283 NA 3.6085736 1291 22 50502650 50502650 G A intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs11568184 0.11 0.11 0.093 0.131789 0.1322 0.0923 0.1758 0.0598 0.2382 0.12 0.1 0.16 0.08 0.1292 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50106 NA NA 0.130044 0.069021 NA 0.065 NA 3.608556 1291 1 152710165 152710165 G T intergenic C1orf68,KPRP dist=17260;dist=20341 NA NA ncRNA_exonic ENSG00000229713 NA NA NA NA NA 1q21.3 NA NA NA NA rs11588950 0.28 0.28 0.289 0.26857 0.3917 0.1042 0.2565 0.3275 0.2403 0.38 0.1 0.3 0.32 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.427109 NA NA NA NA NA 0.319 NA 3.6083 1291 8 27291749 27291749 C T intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs12056620 0.31 0.31 0.285 0.336062 0.3917 0.1964 0.3862 0.3064 0.4274 0.41 0.16 0.36 0.29 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046466 NA NA NA NA NA 0.442 NA 3.6083 1291 8 27293989 27293989 G A intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs2241654 0.37 0.37 0.379 0.421126 0.3917 0.1964 0.4078 0.6157 0.4294 0.41 0.15 0.38 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141349 NA NA NA NA NA 0.507 NA 3.6083 1291 11 7670943 7670943 G A intronic PPFIBP2 NA NA NA intronic ENSG00000166387 NA NA NA NA NA 11p15.4 NA NA NA NA rs10839831 0.24 0.24 0.195 0.226637 0.3917 0.0873 0.3804 0.0166 0.3753 0.42 0.09 0.41 0.02 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959883 NA NA NA NA NA 0.21 NA 3.6083 1291 19 13002563 13002563 T G intronic GCDH NA NA NA intronic ENSG00000105607 NA NA NA NA NA 19p13.2 NA NA NA NA rs2242517 0.38 0.38 0.339 0.403954 0.3917 0.1508 0.4942 0.6377 0.2975 0.37 0.15 0.47 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483847 NA NA NA NA NA 0.384 NA 3.6083 1291 19 39306803 39306803 G C intronic ECH1 NA NA NA intronic ENSG00000104823 NA NA NA NA NA 19q13.2 NA NA NA NA rs2075587 0.5 0.5 0.514 0.577077 0.3917 0.375 0.5591 0.882 0.5767 0.37 0.32 0.56 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192197 NA NA NA NA NA 0.551 NA 3.6083 1291 20 3624704 3624704 G A intronic ATRN NA NA NA intronic ENSG00000088812 NA NA NA NA NA 20p13 NA NA NA NA rs2246799 0.39 0.39 0.383 0.417732 0.3917 0.1964 0.3818 0.7133 0.2986 0.38 0.16 0.38 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.053356 NA NA NA NA NA 0.362 NA 3.6083 1291 20 31626558 31626558 G C intronic BPIFB6 NA NA NA intronic ENSG00000167104 NA NA NA NA NA 20q11.21 NA NA NA NA rs6088078 0.54 0.54 0.538 0.565695 0.3917 0.7411 0.4798 0.6195 0.5521 0.39 0.72 0.46 0.61 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032282 NA NA NA NA NA 0.514 NA 3.6083 1291 20 31626621 31626621 C T intronic BPIFB6 NA NA NA intronic ENSG00000167104 NA NA NA NA NA 20q11.21 NA NA NA NA rs6057708 0.53 0.53 0.542 0.5627 0.3917 0.7252 0.4798 0.621 0.5511 0.39 0.71 0.45 0.61 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067577 NA NA NA NA NA 0.514 NA 3.6083 1291 21 40900779 40900779 C T intergenic SH3BGR,C21orf88 dist=13346;dist=68296 NA NA ncRNA_exonic ENSG00000235012 NA NA NA NA NA 21q22.2 NA NA NA NA rs1007351 0.42 0.42 0.382 0.393171 0.3917 0.7341 0.5086 0.0356 0.4448 0.4 0.72 0.48 0.05 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12569 NA NA NA NA NA 0.457 NA 3.6083 1291 12 996357 996357 C T intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA NA NA NA rs56375346 0.1 0.1 0.107 0.101238 0.1332 0.1091 0.0778 0.0348 0.1667 0.13 0.11 0.1 0.04 0.1192 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851524 NA NA 0.139302 0.045847 NA 0.181 NA 3.608298 1291 1 21900151 21900151 T C intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs74063111 0.27 0.27 0.215 0.257987 0.1203 0.4484 0.2666 0.236 0.227 0.13 0.49 0.26 0.23 0.1721 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.485493 1.485493 NA 0.099419 0.191103 NA 0.167 NA 3.608181 1291 6 29718955 29718955 G A upstream IFITM4P NA NA NA upstream;downstream ENSG00000235821;ENSG00000199290,ENSG00000272236 NA NA NA NA NA 6p22.1 NA NA NA NA rs55884048 0.06 0.06 0.039 0.076278 0.0586 0.1587 0.0375 0.0008 0.1391 0.06 0.14 0.03 0.002 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137561 NA NA NA NA NA 0.087 NA 3.6080666 1291 10 90767640 90767640 C T intronic FAS NA NA NA intronic ENSG00000026103 NA NA NA NA NA 10q23.31 NA NA NA NA rs2296601 0.23 0.23 0.221 0.242013 0.1233 0.4286 0.2118 0.2247 0.2168 0.12 0.42 0.17 0.22 0.1637 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685943 NA NA 0.105116 0.218793 NA 0.152 NA 3.607884 1291 3 8667896 8667896 T C intronic SSUH2 NA NA NA intronic ENSG00000125046 NA NA NA NA NA 3p26.1 NA Name=Egr-1 Name=56 NA rs355058 0.82 0.82 0.793 0.810903 0.8091 1 0.8228 0.6293 0.8548 0.81 1 0.8 0.64 0.8035 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084873 NA NA 0.779884 0.690195 NA 0.71 NA 3.607516 1291 4 5418539 5418539 C T intronic STK32B NA NA NA intronic ENSG00000152953 NA NA NA NA NA 4p16.2 NA Name=MEF2A Name=6 NA rs168985 0.83 0.83 0.873 0.833466 0.7982 0.8988 0.6556 0.8865 0.8569 0.8 0.9 0.67 0.92 0.8041 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090171 NA NA 0.790233 0.85724 NA 0.906 NA 3.607467 1291 5 49929486 49929486 A C intergenic EMB,PARP8 dist=192252;dist=32247 NA NA downstream ENSG00000213956 NA NA NA Score=488;Name=lod=128 NA 5q11.1 NA NA NA NA rs7710150 0.92 0.92 0.917 0.915335 0.8926 0.995 0.8761 0.9289 0.8661 0.89 0.99 0.89 0.91 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265775 NA NA NA NA NA 0.522 NA 3.6074 1291 10 101823543 101823543 T C intronic CPN1 NA NA NA intronic ENSG00000120054 NA NA NA NA NA 10q24.2 NA NA NA NA rs4462272 0.26 0.26 0.238 0.210663 0.3926 0.0823 0.3674 0.1558 0.1186 0.38 0.09 0.39 0.16 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392563 NA NA NA NA NA 0.362 NA 3.6074 1291 14 78353368 78353368 T C intronic ADCK1 NA NA NA intronic ENSG00000063761 NA NA NA NA NA 14q24.3 NA NA NA NA rs17826188 0.4 0.4 0.376 0.396166 0.3926 0.5099 0.5562 0.2057 0.4264 0.39 0.49 0.56 0.19 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198838 NA NA NA NA NA 0.37 NA 3.6074 1291 15 93543956 93543956 G A intronic CHD2 NA NA NA intronic ENSG00000173575 NA NA NA NA NA 15q26.1 NA NA NA NA rs12591124 0.48 0.48 0.434 0.460463 0.3926 0.8065 0.5014 0.1944 0.5041 0.4 0.79 0.5 0.21 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023278 NA NA NA NA NA 0.37 NA 3.6074 1291 16 18860472 18860472 T C intronic SMG1 NA NA NA intronic ENSG00000157106 NA NA NA NA NA 16p12.3 NA NA NA NA rs12931729 0.23 0.23 0.215 0.242212 0.3926 0.1091 0.2983 0.1346 0.3303 0.39 0.09 0.28 0.13 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899785 NA NA NA NA NA 0.348 NA 3.6074 1291 6 129932648 129932648 A C intronic ARHGAP18 NA NA NA intronic ENSG00000146376 NA NA NA NA NA 6q22.33 NA NA NA NA rs34046462 0.07 0.07 0.058 0.0507188 0.1441 NA 0.1037 0.003 0.0337 0.14 NA 0.12 0.01 0.1032 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110629 NA NA 0.145814 0.027009 NA 0.072 NA 3.606886 1291 14 105617467 105617467 G A intronic JAG2 NA NA NA intronic ENSG00000184916 NA NA NA NA NA 14q32.33 NA NA NA NA rs116916276 0.07 0.07 0.086 0.0517173 0.1402 NA 0.0922 0.0106 0.0409 0.14 NA 0.1 0.01 0.1244 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.556313 1.556313 NA 0.128581 0.032787 NA 0.022 NA 3.606819 1291 19 54206144 54206144 A G downstream MIR518B NA NA NA downstream ENSG00000207862 NA NA NA NA NA 19q13.42 NA NA NA NA rs115619728 0.03 0.03 0.026 0.0269569 0.0288 0.0506 0.0072 0.0151 0.0307 0.03 0.04 0.01 0.02 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538221 NA NA 0.031113 0.011561 NA 0.007 NA 3.6067536 1291 1 175096333 175096333 A G intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs2072040 0.5 0.5 0.484 0.490216 0.3936 0.6468 0.5576 0.3638 0.5511 0.4 0.67 0.55 0.41 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010832 NA NA NA NA NA 0.565 NA 3.6064 1291 5 5200490 5200490 T C intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs17762877 0.22 0.22 0.213 0.22524 0.3936 0.0694 0.2349 0.112 0.3589 0.37 0.08 0.25 0.14 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211553 NA NA NA NA NA 0.225 NA 3.6064 1291 9 38413159 38413159 T G intronic IGFBPL1 NA NA NA intronic ENSG00000137142 NA NA NA NA NA 9p13.1 NA NA NA NA rs7018644 0.3 0.3 0.282 0.307708 0.3936 0.1935 0.304 0.3041 0.3446 0.39 0.22 0.33 0.27 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692686 NA NA NA NA ID=COSN168544;OCCURENCE=1(large_intestine) 0.254 NA 3.6064 1291 11 118970878 118970878 A C intronic DPAGT1 NA NA NA intronic ENSG00000172269 NA NA NA NA NA 11q23.3 NA NA NA NA rs603826 0.34 0.34 0.337 0.282548 0.3936 0.4544 0.2378 0.174 0.1697 0.38 0.49 0.28 0.15 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025403 NA NA NA NA NA 0.406 NA 3.6064 1291 11 118985151 118985151 T C intronic C2CD2L NA NA NA intronic ENSG00000172375 NA NA NA NA NA 11q23.3 NA NA NA NA rs595782 0.35 0.35 0.36 0.295927 0.3936 0.4841 0.2478 0.1906 0.1779 0.38 0.5 0.28 0.16 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193813 NA NA NA NA NA 0.413 NA 3.6064 1291 15 91435422 91435422 G A intronic FES NA NA NA intronic ENSG00000182511 NA NA NA NA NA 15q26.1 NA NA NA NA rs12909124 0.46 0.46 0.423 0.457069 0.3936 0.7887 0.5893 0.1157 0.5481 0.37 0.81 0.54 0.12 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079411 NA NA NA NA NA 0.37 NA 3.6064 1291 19 2116760 2116760 A G intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs78648742 0.07 0.07 0.066 0.0800719 0.1153 NA 0.0677 0.0855 0.1278 0.11 NA 0.09 0.09 0.1322 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069218 NA NA 0.146203 0.08487 NA 0.065 NA 3.606297 1291 13 113459221 113459221 A G intronic ATP11A NA NA NA intronic ENSG00000068650 NA NA NA NA NA 13q34 NA NA NA NA rs3742228 0.22 0.22 0.243 0.23143 0.1451 0.2044 0.1282 0.4213 0.1646 0.14 0.19 0.14 0.43 0.141 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172752 NA NA 0.107734 0.359091 NA 0.217 NA 3.606166 1291 8 101117734 101117734 A G intronic RGS22 NA NA NA UTR5 ENSG00000132554 ENST00000523287:c.-25322T>C,ENST00000519092:c.-25322T>C NA NA NA NA 8q22.2 NA NA NA NA rs1471293 0.7 0.7 0.703 0.696286 0.5606 0.7044 0.7262 0.8759 0.5634 0.57 0.71 0.72 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.454732 NA NA NA NA NA 0.638 NA 3.6060667 1291 19 9489132 9489132 C T intronic ZNF177,ZNF559-ZNF177 NA NA NA UTR3 ENSG00000270011 ENST00000605775:c.*280C>T NA NA NA NA 19p13.2 NA NA NA NA rs2304110 0.53 0.53 0.544 0.54353 0.5606 0.4504 0.5375 0.5885 0.5654 0.55 0.42 0.57 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78729 NA NA NA NA NA 0.638 NA 3.6060667 1291 14 24522911 24522911 C G intronic LRRC16B NA NA NA intronic ENSG00000186648 NA NA NA NA NA 14q11.2 NA NA NA NA rs35809913 0.07 0.07 0.053 0.0734824 0.1322 0.0089 0.0937 0.0076 0.1544 0.14 0.01 0.1 0.01 0.1132 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.52932 NA NA 0.148721 0.026101 NA 0.08 NA 3.605879 1291 4 2935251 2935251 T A intronic MFSD10 NA NA NA intronic ENSG00000109736 NA NA NA NA NA 4p16.3 NA Name=EBF1_(C-8) Name=15 NA rs2301374 0.72 0.72 0.717 0.746605 0.7982 0.5675 0.8084 0.7738 0.7975 0.79 0.52 0.8 0.77 0.7868 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160892 NA NA 0.809186 0.771902 NA 0.63 NA 3.605814 1291 19 2121316 2121316 C T intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs11667435 0.05 0.05 0.04 0.0609026 0.1153 NA 0.062 0.0151 0.1288 0.11 NA 0.07 0.01 0.1227 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387393 NA NA 0.156294 0.036446 NA 0.058 NA 3.605706 1291 3 195959924 195959924 T C intronic SLC51A NA NA NA intronic ENSG00000161217,ENSG00000163959 NA NA NA NA NA 3q29 NA Name=BATF NA NA rs1476331 0.59 0.59 0.59 0.573882 0.4423 0.8681 0.5101 0.4909 0.5634 0.44 0.88 0.51 0.53 0.507 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112037 NA NA 0.445116 0.491602 NA 0.507 NA 3.605584 1291 1 161721351 161721351 A G intronic DUSP12 NA NA NA intronic ENSG00000081721 NA NA NA NA NA 1q23.3 NA NA NA NA rs7540096 0.57 0.57 0.587 0.58147 0.3946 0.7034 0.3429 0.9009 0.3855 0.39 0.67 0.4 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.158468 NA NA NA NA NA 0.536 NA 3.6054 1291 3 56052839 56052839 G T intronic ERC2 NA NA NA intronic ENSG00000187672 NA NA NA NA NA 3p14.3 NA NA NA NA rs3816575 0.37 0.37 0.341 0.33766 0.3946 0.5129 0.317 0.1346 0.3875 0.4 0.53 0.38 0.13 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.440751 1.440751 NA NA NA NA 0.174 NA 3.6054 1291 12 52946346 52946346 C G intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs681387 0.36 0.36 0.397 0.405751 0.3946 0.1865 0.2291 0.6392 0.453 0.4 0.19 0.25 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677234 NA NA NA NA ID=COSN164263;OCCURENCE=1(breast) 0.406 NA 3.6054 1291 14 107099480 107099480 C T intergenic LINC00221,NONE dist=147951;dist=NONE NA NA ncRNA_intronic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs113778466 NA NA 0.301 0.567692 0.3946 0.5298 0.4452 0.6974 0.6963 NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015463 NA NA NA NA NA 0.239 NA 3.6054 1291 15 59494673 59494673 C T intronic MYO1E NA NA NA intronic ENSG00000157483 NA NA NA NA NA 15q22.2 NA NA NA NA rs2306787 0.51 0.51 0.48 0.557708 0.3946 0.6825 0.5274 0.5356 0.6483 0.4 0.68 0.47 0.51 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196365 NA NA NA NA NA 0.428 NA 3.6054 1291 10 27404927 27404927 G T intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs2297151 0.34 0.34 0.336 0.347244 0.2247 0.5506 0.1873 0.3071 0.4315 0.23 0.6 0.19 0.3 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312645 NA NA 0.170246 0.313584 NA 0.275 NA 3.605054 1292 7 56126360 56126360 T C exonic CCT6A NA synonymous SNV CCT6A:NM_001009186:exon7:c.T798C:p.V266V,CCT6A:NM_001762:exon8:c.T933C:p.V311V exonic ENSG00000146731 NA synonymous SNV ENSG00000146731:ENST00000335503:exon7:c.T798C:p.V266V,ENSG00000146731:ENST00000275603:exon8:c.T933C:p.V311V,ENSG00000146731:ENST00000540286:exon9:c.T840C:p.V280V NA NA 7p11.2 NA NA NA NA rs2230197 0.67 0.67 0.672 0.642173 0.6789 0.7103 0.6614 0.5961 0.5828 0.69 0.71 0.65 0.62 0.6838 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.668484 NA NA 0.69907 0.603268 NA 0.681 NA 3.6048966 1292 7 101192542 101192542 G A intronic COL26A1 NA NA NA intronic ENSG00000160963 NA NA NA NA NA 7q22.1 NA NA NA NA rs57977430 0.11 0.11 0.125 0.121605 0.1402 0.0069 0.0879 0.174 0.1738 0.14 0.01 0.09 0.17 0.1252 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03761 NA NA 0.129828 0.170032 NA 0.225 NA 3.604772 1292 18 8796503 8796503 C T intronic SOGA2 NA NA NA intronic ENSG00000168502 NA NA NA NA NA 18p11.22 NA NA NA NA rs2287501 0.08 0.08 0.064 0.0720847 0.1402 0.0228 0.0893 0.0484 0.0726 0.14 0.02 0.09 0.04 0.1145 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.008208 3.008208 NA 0.140814 0.050386 NA 0.203 NA 3.604486 1292 12 133365914 133365914 C T intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs77794360 0.1 0.1 0.08 0.101438 0.1461 0.1151 0.1009 0.0083 0.1677 0.15 0.1 0.11 0.01 0.1344 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543701 NA NA 0.115093 0.026744 NA 0.043 NA 3.604407 1292 2 36805676 36805676 A G intronic FEZ2 NA NA NA intronic ENSG00000171055 NA NA NA NA NA 2p22.2 NA NA NA NA rs2075226 0.49 0.49 0.511 0.490016 0.3956 0.6468 0.3386 0.6437 0.3252 0.4 0.62 0.32 0.61 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397788 NA NA NA NA NA 0.565 NA 3.6044 1292 9 136232758 136232758 T C intronic SURF4 NA NA NA intronic ENSG00000148248 NA NA NA NA NA 9q34.2 NA NA NA NA rs2269894 0.28 0.28 0.245 0.291134 0.3956 0.2976 0.3573 0.0393 0.4703 0.41 0.27 0.35 0.07 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833141 NA NA NA NA NA 0.232 NA 3.6044 1292 11 101637206 101637206 T C intergenic TRPC6,ANGPTL5 dist=182547;dist=124199 NA NA ncRNA_exonic ENSG00000254534 NA NA NA NA NA 11q22.1 NA NA NA NA rs734953 0.38 0.38 0.35 0.388379 0.3956 0.3552 0.3256 0.4183 0.4192 0.4 0.34 0.33 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540172 NA NA NA NA NA 0.29 NA 3.6044 1292 11 110118364 110118364 A C intronic RDX NA NA NA intronic ENSG00000137710 NA NA NA NA NA 11q22.3 NA NA NA NA rs17110988 0.43 0.43 0.39 0.42512 0.3956 0.6419 0.4179 0.3026 0.4029 0.42 0.6 0.41 0.27 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568271 NA NA NA NA NA 0.348 NA 3.6044 1292 14 90734826 90734826 A G intronic PSMC1 NA NA NA intronic ENSG00000100764 NA NA NA NA NA 14q32.11 NA NA NA NA rs11624246 0.35 0.35 0.327 0.323482 0.3956 0.5099 0.3012 0.0825 0.3988 0.41 0.51 0.33 0.1 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459647 NA NA NA NA NA 0.312 NA 3.6044 1292 14 107099262 107099262 T C intergenic LINC00221,NONE dist=147733;dist=NONE NA NA ncRNA_exonic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs72483334 0.43 0.43 0.297 0.549521 0.3956 0.5119 0.4236 0.6732 0.6687 0.33 0.43 0.4 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386182 NA NA NA NA NA 0.036 NA 3.6044 1292 17 76502734 76502734 T C intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs11077378 0.32 0.32 0.367 0.357428 0.3956 0.1042 0.2853 0.4849 0.4581 0.4 0.1 0.31 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098756 NA NA NA NA NA 0.464 NA 3.6044 1292 22 50658570 50658570 A G intronic TUBGCP6 NA NA NA intronic ENSG00000128159 NA NA NA NA NA 22q13.33 NA NA NA NA rs17248273 0.4 0.4 0.377 0.408147 0.3956 0.3929 0.4121 0.4614 0.362 0.39 0.38 0.37 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108059 NA NA NA NA NA 0.37 NA 3.6044 1292 2 241812566 241812566 G A intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs12997245 0.31 0.31 0.322 0.304313 0.3966 0.2431 0.2464 0.3351 0.272 0.39 0.22 0.28 0.32 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112629 NA NA NA NA NA 0.486 NA 3.6034 1292 3 45715767 45715767 G A intronic LIMD1 NA NA NA intronic ENSG00000144791 NA NA NA NA NA 3p21.31 NA NA NA NA rs2742409 0.21 0.21 0.183 0.182109 0.3966 0.0298 0.3242 0.0484 0.1984 0.38 0.02 0.33 0.07 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318186 NA NA NA NA NA 0.116 NA 3.6034 1292 3 47361082 47361082 G T intronic KLHL18 NA NA NA intronic ENSG00000114648 NA NA NA NA NA 3p21.31 NA NA NA NA rs2302278 NA NA NA 0.461062 0.3966 0.4435 0.4553 0.5779 0.3916 NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662607 NA NA NA NA NA 0.362 NA 3.6034 1292 4 85165279 85165279 G C intergenic AGPAT9,NKX6-1 dist=638252;dist=249157 NA NA ncRNA_exonic ENSG00000214980 NA NA NA NA NA 4q21.23 NA NA NA NA rs348702 0.29 0.29 0.267 0.25619 0.3966 0.1577 0.2925 0.2814 0.1534 0.42 0.14 0.28 0.26 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179912 NA NA NA NA NA 0.384 NA 3.6034 1292 5 137728774 137728774 A G intronic KDM3B NA NA NA intronic ENSG00000120733 NA NA NA NA NA 5q31.2 NA NA NA NA rs2269951 0.44 0.44 0.444 0.457268 0.3966 0.5833 0.3415 0.4607 0.4673 0.4 0.56 0.31 0.45 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376518 1.376518 NA NA NA NA 0.5 NA 3.6034 1292 8 61496950 61496950 C T intronic RAB2A NA NA NA intronic ENSG00000104388 NA NA NA NA NA 8q12.1 NA NA NA NA rs3735826 0.56 0.56 0.594 0.616813 0.3966 0.5913 0.4251 0.8986 0.6247 0.38 0.56 0.47 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790758 NA NA NA NA NA 0.601 NA 3.6034 1292 10 44874253 44874253 C T intronic CXCL12 NA NA NA intronic ENSG00000107562,ENSG00000269515 NA NA NA NA NA 10q11.21 NA NA NA NA rs266085 0.4 0.4 0.373 0.373802 0.3966 0.5546 0.3242 0.202 0.4315 0.42 0.56 0.34 0.24 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330369 NA NA NA NA NA 0.362 NA 3.6034 1292 11 3048140 3048140 A G intronic CARS NA NA NA intronic ENSG00000110619 NA NA NA NA NA 11p15.4 NA NA NA NA rs494427 0.42 0.42 0.428 0.456869 0.3966 0.2024 0.3545 0.7791 0.4182 0.4 0.21 0.35 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262038 NA NA NA NA NA 0.449 NA 3.6034 1292 11 6636900 6636900 G C intronic TPP1 NA NA NA intronic ENSG00000166340 NA NA NA NA NA 11p15.4 NA NA NA NA rs1800745 0.14 0.14 0.131 0.113419 0.2117 0.0863 0.1801 0.0113 0.1309 0.22 0.1 0.19 0.02 0.1849 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812817 NA NA NA NA NA 0.152 NA 3.6034 1292 14 21215600 21215600 A G intronic EDDM3A NA NA NA intronic ENSG00000181562 NA NA NA NA NA 14q11.2 NA NA NA NA rs17211691 0.37 0.37 0.366 0.348842 0.3966 0.374 0.4179 0.289 0.3057 0.41 0.38 0.37 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025523 NA NA NA NA NA 0.355 NA 3.6034 1292 17 38877872 38877872 C A intergenic KRT24,KRT25 dist=17870;dist=26401 NA NA ncRNA_exonic ENSG00000229028 NA NA NA NA NA 17q21.2 NA NA NA NA rs1526602 0.38 0.38 0.362 0.363019 0.3966 0.2808 0.4135 0.3828 0.3507 0.39 0.3 0.44 0.4 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89465 NA NA NA NA NA 0.442 NA 3.6034 1292 7 27578068 27578068 T C intronic HIBADH NA NA NA intronic ENSG00000106049 NA NA NA NA NA 7p15.2 NA NA NA NA rs17607303 0.08 0.08 0.056 0.0585064 0.1481 0.001 0.0793 0.0499 0.0225 0.15 NA 0.1 0.05 0.1045 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.91468 2.91468 NA 0.144336 0.06653 NA 0.116 NA 3.603064 1292 10 98336341 98336341 C A intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs61858555 0.08 0.08 0.081 0.0786741 0.1342 0.0149 0.0749 0.059 0.1166 0.14 0.01 0.09 0.07 0.1124 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049703 NA NA 0.1505 0.065365 NA 0.043 NA 3.6029 1292 12 118639312 118639312 G A intronic TAOK3 NA NA NA intronic ENSG00000135090 NA NA NA NA NA 12q24.23 NA NA NA NA rs17440433 0.07 0.07 0.072 0.0559105 0.1511 0.0089 0.062 0.0204 0.0501 0.16 0.01 0.06 0.02 0.1061 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.960505 NA NA 0.14 0.036314 NA 0.058 NA 3.6028 1292 4 149073555 149073555 C T intronic NR3C2 NA NA NA ncRNA_intronic ENSG00000250354 NA NA NA NA NA 4q31.23 NA NA NA NA rs2272089 0.76 0.76 0.777 0.731629 0.7306 0.7649 0.6729 0.7852 0.6677 0.74 0.79 0.69 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.271378 NA NA NA NA NA 0.761 NA 3.6027333 1292 6 56371698 56371698 A G ncRNA_intronic RNU6-71P NA NA NA intronic ENSG00000151914 NA NA NA NA NA 6p12.1 NA NA NA NA rs9296848 0.78 0.78 0.768 0.763778 0.7306 0.7589 0.7392 0.879 0.6646 0.74 0.77 0.71 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606858 NA NA NA NA NA 0.768 NA 3.6027333 1292 18 31599259 31599259 T C intronic NOL4 NA NA NA intronic ENSG00000101746 NA NA NA NA NA 18q12.1 NA NA NA NA rs10502615 0.08 0.08 0.064 0.0597045 0.1421 0.001 0.0965 0.0272 0.0532 0.15 0.0017 0.13 0.03 0.1065 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.014277 2.014277 NA 0.148721 0.041761 NA 0.043 NA 3.602679 1292 10 100021983 100021983 G A intronic LOXL4 NA NA NA intronic ENSG00000138131 NA NA NA NA NA 10q24.2 NA NA NA NA rs746257 0.1 0.1 0.102 0.0994409 0.1322 0.1052 0.0879 0.0658 0.1135 0.13 0.1 0.1 0.05 0.1199 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432277 NA NA 0.145233 0.08443 NA 0.145 NA 3.602667 1292 17 57746107 57746107 A G intronic CLTC NA NA NA intronic ENSG00000141367 NA NA NA NA NA 17q23.1 NA NA NA NA rs2272411 0.28 0.28 0.306 0.30611 0.1004 0.4792 0.1585 0.3585 0.3732 0.1 0.49 0.17 0.37 0.2035 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157562 NA NA 0.093605 0.302135 NA 0.283 NA 3.602495 1292 1 94341137 94341137 C T intronic DNTTIP2 NA NA NA intronic ENSG00000067334 NA NA NA NA NA 1p22.1 NA NA NA NA rs2273166 0.42 0.42 0.416 0.446486 0.3976 0.619 0.3934 0.2579 0.6115 0.39 0.61 0.42 0.26 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380061 NA NA NA NA NA 0.486 NA 3.6024 1292 2 71376809 71376809 T C intronic MPHOSPH10 NA NA NA intronic ENSG00000124383 NA NA NA NA NA 2p13.3 NA NA NA NA rs4852763 0.21 0.21 0.175 0.182907 0.3976 0.0437 0.2723 0.0318 0.2464 0.4 0.04 0.3 0.03 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457794 NA NA NA NA NA 0.232 NA 3.6024 1292 6 549364 549364 G A intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs2473490 0.35 0.35 0.391 0.353634 0.3976 0.1627 0.268 0.6097 0.2198 0.42 0.16 0.28 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198398 NA NA NA NA NA 0.304 NA 3.6024 1292 19 58757870 58757870 G C intronic ZNF544 NA NA NA intronic ENSG00000198131,ENSG00000269545 NA NA NA NA NA 19q13.43 NA NA NA NA rs12972443 0.24 0.24 0.254 0.206669 0.3976 0.0129 0.2421 0.1853 0.2137 0.4 0.01 0.3 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979377 NA NA NA NA NA 0.254 NA 3.6024 1292 19 2109071 2109071 C T intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs56150334 0.07 0.07 0.055 0.0770767 0.1153 NA 0.0677 0.0749 0.1268 0.11 NA 0.09 0.08 0.1267 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063972 NA NA 0.155609 0.0837 NA 0.065 NA 3.602391 1292 3 194373833 194373833 G A exonic LSG1 NA synonymous SNV LSG1:NM_018385:exon8:c.C798T:p.T266T exonic ENSG00000041802 NA synonymous SNV ENSG00000041802:ENST00000265245:exon8:c.C798T:p.T266T NA NA 3q29 NA NA NA NA rs1705991 0.56 0.56 0.614 0.634185 0.7038 0.8651 0.6297 0.3253 0.7454 0.6 0.75 0.56 0.26 0.6765 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006305 NA NA 0.68407 0.400136 NA NA NA 3.6022966 1292 11 16863049 16863049 C T intronic PLEKHA7 NA NA NA intronic ENSG00000166689 NA NA NA NA NA 11p15.1 NA NA NA NA rs369457 0.18 0.18 0.188 0.194688 0.1352 0.1617 0.2032 0.3079 0.1309 0.12 0.17 0.19 0.26 0.143 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011669 NA NA 0.119585 0.265227 NA 0.232 NA 3.602215 1292 6 25798932 25798932 G A intronic SLC17A1 NA NA NA UTR3 ENSG00000124568 ENST00000476801:c.*81C>T NA NA NA NA 6p22.2 NA NA NA NA rs1165215 0.74 0.74 0.729 0.719848 0.5646 0.8175 0.7017 0.9228 0.5174 0.57 0.84 0.69 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179594 NA NA NA NA NA 0.623 NA 3.6020667 1292 6 160133633 160133633 G C intergenic SOD2,WTAP dist=19280;dist=14397 NA NA intronic ENSG00000112096 NA NA NA NA NA 6q25.3 NA NA NA NA rs76993980 0.08 0.08 0.054 0.057508 0.0646 0.0347 0.1643 0.0386 0.0235 0.07 0.04 0.14 0.07 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060896 NA NA NA NA NA 0.007 NA 3.6020667 1292 9 117027165 117027165 A G intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs41312228 0.08 0.08 0.055 0.0617013 0.1431 0.002 0.1441 0.0151 0.044 0.14 0.0035 0.15 0.01 0.1124 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.622598 1.622598 NA 0.142442 0.035876 NA 0.08 NA 3.602058 1292 1 227333141 227333141 T C intronic CDC42BPA NA NA NA intronic ENSG00000143776 NA NA NA NA NA 1q42.13 NA NA NA NA rs60079575 0.13 0.13 0.129 0.1248 0.1362 NA 0.0908 0.2905 0.0419 0.13 NA 0.1 0.28 0.1172 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596953 NA NA 0.144752 0.246591 NA 0.138 NA 3.601848 1292 19 18989859 18989859 G A intronic CERS1,GDF1 NA NA NA intronic ENSG00000130283,ENSG00000223802 NA NA NA NA NA 19p13.11 NA NA NA NA rs2075762 0.15 0.15 0.152 0.170327 0.1143 0.379 0.0951 0.0053 0.2894 0.12 0.37 0.08 0.0041 0.1568 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944596 NA NA 0.127061 0.024755 NA 0.196 NA 3.601839 1292 19 33663354 33663354 T C intronic WDR88 NA NA NA intronic ENSG00000166359 NA NA NA NA NA 19q13.11 NA NA NA NA rs62125333 0.15 0.15 0.153 0.186102 0.1292 0.1607 0.134 0.1467 0.3609 0.13 0.17 0.17 0.14 0.1529 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043201 NA NA 0.116163 0.141171 NA 0.203 NA 3.601737 1292 22 21330608 21330608 C T intronic AIFM3 NA NA NA intronic ENSG00000183773 NA NA NA NA NA 22q11.21 NA NA NA NA rs34766252 0.1 0.1 0.089 0.0840655 0.1461 NA 0.0648 0.146 0.0368 0.16 NA 0.07 0.16 0.1159 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.798513 NA NA 0.136279 0.151158 NA 0.087 NA 3.601721 1292 19 2123328 2123328 A G intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs76578931 0.07 0.07 0.061 0.076877 0.1143 NA 0.0648 0.0749 0.1288 0.11 NA 0.08 0.08 0.1271 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090136 NA NA 0.156912 0.084103 NA 0.065 NA 3.601688 1292 2 98382886 98382886 G A intronic TMEM131 NA NA NA intronic ENSG00000075568 NA NA NA NA NA 2q11.2 NA NA NA NA rs895438 0.19 0.19 0.147 0.140375 0.3986 0.0119 0.2017 0.0234 0.1217 0.42 0.01 0.21 0.02 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887162 NA NA NA NA NA 0.152 NA 3.6014 1292 4 5642141 5642141 C T intronic EVC2 NA NA NA intronic ENSG00000173040 NA NA NA NA NA 4p16.2 NA NA NA NA rs751842 0.4 0.4 0.4 0.400759 0.3986 0.3512 0.464 0.4531 0.3384 0.41 0.38 0.43 0.4 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369251 NA NA NA NA NA 0.435 NA 3.6014 1292 5 178268107 178268107 G C intergenic AACSP1,ZNF354B dist=64830;dist=18847 NA NA ncRNA_exonic ENSG00000253725 NA NA NA NA NA 5q35.3 NA NA NA NA rs7445060 0.35 0.35 0.334 0.34365 0.3986 0.4067 0.3141 0.2421 0.3804 0.38 0.38 0.36 0.24 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.008239 NA NA NA NA NA 0.203 NA 3.6014 1292 10 30974174 30974174 T C intergenic LYZL2,ZNF438 dist=55527;dist=159391 NA NA ncRNA_intronic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA NA NA rs4749580 0.32 0.32 0.274 0.347843 0.3986 0.2698 0.4135 0.2269 0.4928 0.4 0.25 0.4 0.25 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134361 NA NA NA NA NA 0.29 NA 3.6014 1292 10 97158713 97158713 G A intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA NA NA 10q24.1 NA NA NA NA rs2274489 0.25 0.25 0.251 0.256589 0.3986 0.0823 0.3386 0.1339 0.3978 0.39 0.1 0.35 0.14 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.000196 2.000196 NA NA NA ID=COSN163718;OCCURENCE=1(breast) 0.159 NA 3.6014 1292 17 60214389 60214389 G A intergenic MED13,TBC1D3P2 dist=71746;dist=127678 NA NA ncRNA_exonic ENSG00000266066 NA NA NA NA NA 17q23.2 NA NA NA NA rs72844475 0.32 0.32 0.278 0.305711 0.3986 0.1359 0.5144 0.289 0.2597 0.42 0.14 0.48 0.27 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606215 NA NA NA NA NA 0.333 NA 3.6014 1292 19 14743902 14743902 C T intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA NA NA 19p13.12 NA NA NA NA rs2045912 0.46 0.46 0.437 0.509784 0.3986 0.631 0.4769 0.4153 0.6503 0.38 0.63 0.44 0.39 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.424931 NA NA NA NA NA 0.449 NA 3.6014 1292 19 18956699 18956699 G A intronic UPF1 NA NA NA intronic ENSG00000005007 NA NA NA NA NA 19p13.11 NA NA NA NA rs59045002 0.28 0.28 0.246 0.241414 0.3986 0.1687 0.4971 0.0658 0.2106 0.38 0.18 0.5 0.09 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863159 NA NA NA NA NA 0.217 NA 3.6014 1292 12 133358870 133358870 G A intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs2306546 0.1 0.1 0.071 0.101238 0.1461 0.1131 0.1009 0.0098 0.1667 0.15 0.1 0.11 0.01 0.1284 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354632 NA NA 0.124302 0.028824 ID=COSN164419;OCCURENCE=1(NS) 0.043 NA 3.601198 1292 7 100002772 100002772 A G intronic ZCWPW1 NA NA NA intronic ENSG00000078487 NA NA NA NA NA 7q22.1 NA NA NA NA rs76913697 0.11 0.11 0.107 0.11242 0.1928 0.0278 0.1153 0.1157 0.1104 0.19 0.02 0.12 0.1 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786221 NA NA 0.20616 0.131503 NA 0.159 NA 3.60104 1292 19 2109988 2109988 A T intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs77265501 0.07 0.07 0.057 0.0770767 0.1153 NA 0.0677 0.0749 0.1268 0.11 NA 0.09 0.08 0.1273 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091888 NA NA 0.156867 0.086473 NA 0.065 NA 3.600533 1292 2 10059097 10059097 A C intronic TAF1B NA NA NA intronic ENSG00000115750 NA NA NA NA NA 2p25.1 NA NA NA NA rs2303921 0.49 0.49 0.494 0.502196 0.3996 0.5476 0.4813 0.5688 0.4857 0.42 0.52 0.44 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228397 NA NA NA NA NA 0.384 NA 3.6004 1292 17 3019790 3019790 A G intergenic OR1D2,OR1G1 dist=23500;dist=10114 NA NA ncRNA_exonic ENSG00000142163 NA NA NA NA NA 17p13.3 NA NA NA NA rs769433 0.24 0.24 0.224 0.232228 0.3996 0.1022 0.1902 0.2224 0.2372 0.39 0.1 0.22 0.18 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320917 NA NA NA NA NA 0.326 NA 3.6004 1292 6 151198895 151198895 T C intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA NA NA rs2073064 0.21 0.21 0.191 0.20627 0.1093 0.2113 0.2695 0.3434 0.0706 0.11 0.22 0.25 0.34 0.1652 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.968524 3.968524 NA 0.125349 0.309124 NA 0.203 NA 3.600151 1292 17 15930087 15930087 G A intronic TTC19 NA NA NA UTR3 ENSG00000011295 ENST00000578103:c.*63G>A NA NA NA NA 17p12 NA NA NA NA rs35168566 0.49 0.49 0.479 0.492412 0.5666 0.2242 0.5173 0.6853 0.4141 0.57 0.2 0.52 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527983 NA NA NA NA NA 0.522 NA 3.6000667 1292 19 55713411 55713411 G A intronic PTPRH NA NA NA intronic ENSG00000080031 NA NA NA NA NA 19q13.42 NA NA NA NA rs144253410 0.13 0.13 0.14 0.124401 0.1412 0.1667 0.0591 0.0885 0.1585 0.14 0.18 0.07 0.1 0.1315 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585533 NA NA 0.127326 0.094871 NA 0.152 NA 3.599974 1292 10 53893539 53893539 A T intronic PRKG1 NA NA NA intronic ENSG00000185532 NA NA NA NA NA 10q21.1 NA NA NA NA rs17642863 0.1 0.1 0.093 0.127995 0.1789 0.0129 0.1369 0.0613 0.2781 0.18 0.01 0.14 0.07 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.556174 2.556174 NA 0.221245 0.083092 NA 0.094 NA 3.599855 1292 5 179147641 179147641 C T intronic CANX NA NA NA intronic ENSG00000127022 NA NA NA NA NA 5q35.3 NA NA NA NA rs59666900 0.36 0.36 0.324 0.380391 0.4006 0.4524 0.4135 0.1377 0.59 0.42 0.43 0.41 0.16 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199297 NA NA NA NA NA 0.326 NA 3.5994 1292 8 42026393 42026393 T C intronic AP3M2 NA NA NA intronic ENSG00000070718 NA NA NA NA NA 8p11.21 NA NA NA NA rs7016041 0.47 0.47 0.463 0.465256 0.4006 0.4583 0.4236 0.6483 0.3211 0.39 0.44 0.45 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846573 NA NA NA NA NA 0.5 NA 3.5994 1292 10 98240045 98240045 C T intronic TLL2 NA NA NA intronic ENSG00000095587 NA NA NA NA NA 10q24.1 NA NA NA NA rs2281800 0.3 0.3 0.287 0.256589 0.4006 0.1071 0.3963 0.2587 0.1605 0.39 0.12 0.38 0.3 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008335 NA NA NA NA NA 0.297 NA 3.5994 1292 17 11543520 11543520 T C intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs11653848 0.32 0.32 0.303 0.32508 0.4006 0.244 0.2795 0.3585 0.318 0.38 0.2 0.32 0.37 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112346 NA NA NA NA NA 0.275 NA 3.5994 1292 22 50658274 50658274 C G intronic TUBGCP6 NA NA NA intronic ENSG00000128159 NA NA NA NA NA 22q13.33 NA NA NA NA rs2272854 0.39 0.39 0.365 0.393371 0.4006 0.3948 0.4006 0.4054 0.363 0.39 0.38 0.36 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300868 NA NA NA NA NA 0.37 NA 3.5994 1292 19 2110108 2110108 T C intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs113684349 0.07 0.07 0.072 0.0770767 0.1153 NA 0.0677 0.0749 0.1268 0.11 NA 0.09 0.08 0.1295 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03297 NA NA 0.15586 0.084275 NA 0.065 NA 3.59934 1292 19 43372857 43372857 G T intronic PSG1 NA NA NA intronic ENSG00000231924 NA NA NA NA NA 19q13.2 NA NA NA NA rs10413496 0.24 0.24 0.215 0.287141 0.0994 0.4167 0.1945 0.3124 0.3783 0.1 0.4 0.14 0.33 0.1957 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.205786 NA NA 0.105652 0.305169 NA 0.225 NA 3.599248 1292 17 39406567 39406567 C A UTR3 KRTAP9-4 NM_033191:c.*130C>A NA NA UTR3 ENSG00000241595 ENST00000334109:c.*130C>A NA NA NA NA 17q21.2 NA NA NA NA rs2270179 0.7 0.7 0.6 0.720048 0.7346 0.631 0.8199 0.6619 0.8047 0.72 0.64 0.8 0.66 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218927 NA NA NA NA NA 0.536 NA 3.5987334 1292 6 5609666 5609666 A T intronic FARS2 NA NA NA ncRNA_exonic ENSG00000218574 NA NA NA NA NA 6p25.1 NA NA NA NA rs7763749 0.74 0.74 0.669 0.760184 0.7346 0.8591 0.781 0.652 0.816 0.72 0.82 0.78 0.67 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296363 NA NA NA NA NA 0.696 NA 3.5987333 1292 6 130381246 130381246 T C exonic L3MBTL3 NA synonymous SNV L3MBTL3:NM_001007102:exon9:c.T750C:p.P250P,L3MBTL3:NM_032438:exon10:c.T825C:p.P275P exonic ENSG00000198945 NA synonymous SNV ENSG00000198945:ENST00000368139:exon8:c.T750C:p.P250P,ENSG00000198945:ENST00000526019:exon9:c.T750C:p.P250P,ENSG00000198945:ENST00000533560:exon9:c.T750C:p.P250P,ENSG00000198945:ENST00000361794:exon10:c.T825C:p.P275P,ENSG00000198945:ENST00000368136:exon10:c.T825C:p.P275P,ENSG00000198945:ENST00000529410:exon12:c.T825C:p.P275P NA NA 6q23.1 NA NA NA NA rs7451021 0.68 0.68 0.637 0.643171 0.6799 0.8522 0.6945 0.469 0.589 0.68 0.85 0.7 0.46 0.6849 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.862028 NA NA 0.703256 0.509986 NA 0.63 NA 3.5986106 1292 19 33140719 33140719 C G intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs7246047 0.35 0.35 0.392 0.386981 0.1064 0.4306 0.17 0.7821 0.2505 0.1 0.44 0.18 0.78 0.1963 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490427 NA NA 0.098721 0.66591 NA 0.413 NA 3.598579 1292 1 111866640 111866640 C A intergenic CHIA,PIFO dist=3452;dist=22555 NA NA ncRNA_exonic ENSG00000232240 NA NA NA NA NA 1p13.2 NA NA NA NA rs6690266 0.29 0.29 0.274 0.29353 0.4016 0.378 0.1902 0.0923 0.4407 0.4 0.35 0.24 0.08 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214352 NA NA NA NA NA 0.297 NA 3.5984 1292 14 89577413 89577413 G A intergenic TTC8,FOXN3 dist=233078;dist=45103 NA NA ncRNA_exonic ENSG00000258990 NA NA NA NA NA 14q31.3 NA NA NA NA rs1815281 0.45 0.45 0.463 0.392372 0.4016 0.3938 0.3919 0.5242 0.2035 0.4 0.41 0.4 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116812 NA NA NA NA NA 0.551 NA 3.5984 1292 19 39727480 39727480 G A intergenic SYCN,IFNL3 dist=32574;dist=6792 NA NA ncRNA_exonic ENSG00000268510 NA NA NA NA NA 19q13.2 NA NA NA NA rs11883239 0.35 0.35 0.307 0.307109 0.4016 0.4157 0.3458 0.0998 0.3507 0.39 0.47 0.41 0.1 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585609 NA NA NA NA NA 0.319 NA 3.5984 1292 1 156351792 156351792 G A intronic RHBG NA NA NA intronic ENSG00000132677 NA NA NA NA NA 1q22 NA NA NA NA rs3748568 0.55 0.55 0.544 0.536941 0.4016 0.748 0.549 0.5431 0.4417 0.4 0.77 0.55 0.54 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153956 NA NA NA NA NA 0.609 NA 3.5984 1292 5 148389763 148389763 G A intronic SH3TC2 NA NA NA intronic ENSG00000169247 NA NA NA NA NA 5q32 NA NA NA NA rs1025476 0.37 0.37 0.369 0.377596 0.4016 0.2212 0.304 0.472 0.4387 0.42 0.26 0.33 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903665 NA NA NA NA NA 0.435 NA 3.5984 1292 6 131186578 131186578 T G intronic EPB41L2 NA NA NA intronic ENSG00000079819 NA NA NA NA NA 6q23.1 NA NA NA NA rs7775013 0.36 0.36 0.338 0.328075 0.4016 0.4643 0.3429 0.1354 0.362 0.41 0.46 0.36 0.17 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038977 NA NA NA NA NA 0.348 NA 3.5984 1292 7 143043607 143043607 G C intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA NA NA NA rs2242492 0.41 0.41 0.408 0.414137 0.4016 0.2778 0.3098 0.5885 0.4059 0.39 0.26 0.36 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261029 NA NA NA NA NA 0.478 NA 3.5984 1292 13 111091995 111091995 T G intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs7991229 0.29 0.29 0.285 0.287141 0.4016 0.1419 0.2954 0.2262 0.3957 0.42 0.14 0.32 0.24 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088715 NA NA NA NA NA 0.333 NA 3.5984 1292 20 44180868 44180868 A G intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs17433181 0.29 0.29 0.274 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.850138 3.850138 NA NA NA NA 0.413 NA 3.5984 1292 20 44181669 44181669 A G intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs6032298 0.29 0.29 0.278 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551066 NA NA NA NA NA 0.413 NA 3.5984 1292 20 44181980 44181980 C A intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs3817886 0.29 0.29 0.288 0.283347 0.4016 0.0595 0.3444 0.3707 0.2311 0.4 0.05 0.36 0.35 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136958 NA NA NA NA NA 0.413 NA 3.5984 1292 20 44184285 44184285 G A intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs6032305 0.29 0.29 0.295 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.277054 4.277054 NA NA NA NA 0.413 NA 3.5984 1292 20 44187335 44187335 A G intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs9679769 0.29 0.29 0.295 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055157 NA NA NA NA NA 0.413 NA 3.5984 1292 22 20929286 20929286 C G intronic MED15 NA NA NA intronic ENSG00000099917 NA NA NA NA NA 22q11.21 NA NA NA NA rs165842 0.47 0.47 0.447 0.451278 0.4016 0.5387 0.2723 0.531 0.4315 0.42 0.56 0.31 0.54 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180653 NA NA NA NA NA 0.42 NA 3.5984 1292 3 121383297 121383297 G A UTR3 GOLGB1 NM_001256487:c.*30C>T,NM_004487:c.*30C>T,NM_001256488:c.*30C>T,NM_001256486:c.*30C>T NA NA UTR3 ENSG00000173230 ENST00000340645:c.*30C>T,ENST00000393667:c.*30C>T,ENST00000482512:c.*9733C>T NA NA NA NA 3q13.33 NA NA NA NA rs7153 0.28 0.28 0.258 0.2498 0.2505 0.4841 0.1614 0.1641 0.1861 0.25 0.47 0.2 0.16 0.2394 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.165637 NA NA 0.245233 0.160009 NA 0.188 NA 3.5982004 1292 7 101916798 101916798 C A intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs2974957 0.08 0.08 0.064 0.063099 0.1431 0.0228 0.0922 0.0083 0.0757 0.15 0.03 0.1 0.01 0.1123 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099964 NA NA 0.146512 0.026555 NA 0.087 NA 3.598088 1292 6 41217007 41217007 A C upstream TREML5P NA NA NA ncRNA_intronic ENSG00000225690 NA NA NA NA NA 6p21.1 NA NA NA NA rs2004197 0.41 0.41 0.379 0.361022 0.5686 0.2817 0.5173 0.1785 0.365 0.56 0.28 0.56 0.19 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276255 NA NA NA NA NA 0.507 NA 3.5980666 1292 1 21900112 21900112 G A intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs74063110 0.28 0.28 0.246 0.271765 0.1252 0.4484 0.2709 0.2821 0.227 0.13 0.49 0.26 0.29 0.1672 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997316 NA NA 0.109535 0.250113 NA 0.159 NA 3.598065 1292 1 228480282 228480282 A G exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000359599:exon29:c.A7203G:p.T2401T,ENSG00000154358:ENST00000284548:exon40:c.A10662G:p.T3554T,ENSG00000154358:ENST00000366707:exon40:c.A2019G:p.T673T,ENSG00000154358:ENST00000366709:exon40:c.A2019G:p.T673T,ENSG00000154358:ENST00000422127:exon40:c.A10662G:p.T3554T,ENSG00000154358:ENST00000570156:exon45:c.A11949G:p.T3983T NA NA 1q42.13 NA NA NA NA rs1150908 0.73 0.73 0.708 0.698882 0.672 0.749 0.7147 0.8669 0.4366 0.67 0.74 0.72 0.84 0.6946 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12311 NA NA 0.702156 0.831733 NA 0.717 NA 3.5979106 1292 19 2115439 2115439 C G intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs2066764 0.07 0.07 0.073 0.0800719 0.1153 NA 0.0677 0.0862 0.1268 0.11 NA 0.09 0.1 0.1289 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605198 NA NA 0.158373 0.09708 NA 0.072 NA 3.597427 1292 7 5760860 5760860 G A intronic RNF216 NA NA NA intronic ENSG00000011275 NA NA NA NA NA 7p22.1 NA NA NA NA rs2302907 0.37 0.37 0.345 0.335463 0.4026 0.13 0.4568 0.3359 0.3916 0.49 0.13 0.54 0.33 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.543205 1.543205 NA NA NA NA 0.449 NA 3.5974 1292 8 135685757 135685757 T G intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA NA NA rs1987027 0.33 0.33 0.317 0.338658 0.4026 0.2907 0.3386 0.2526 0.4387 0.39 0.29 0.34 0.26 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058721 NA NA NA NA NA 0.21 NA 3.5974 1292 11 33118274 33118274 A G intronic CSTF3 NA NA NA intronic ENSG00000176102,ENSG00000176148 NA NA NA NA NA 11p13 NA NA NA NA rs7103953 0.28 0.28 0.267 0.232827 0.4026 0.2153 0.2651 0.1014 0.2311 0.39 0.26 0.3 0.11 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.041422 2.041422 NA NA NA NA 0.304 NA 3.5974 1292 19 18971322 18971322 T C intronic UPF1 NA NA NA intronic ENSG00000005007 NA NA NA NA NA 19p13.11 NA NA NA NA rs757115 0.28 0.28 0.234 0.236821 0.4026 0.1696 0.5 0.0431 0.2106 0.39 0.19 0.5 0.06 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485398 NA NA NA NA NA 0.196 NA 3.5974 1292 1 186645927 186645927 C T intronic PTGS2 NA NA NA intronic ENSG00000073756 NA NA NA NA NA 1q31.1 NA NA NA NA rs2066826 0.16 0.16 0.155 0.186102 0.1203 0.0397 0.1945 0.3638 0.1585 0.12 0.05 0.22 0.3 0.1435 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.196657 NA NA 0.139218 0.314033 NA 0.246 NA 3.596982 1292 1 153277660 153277660 A T intronic PGLYRP3 NA NA NA intronic ENSG00000159527 NA NA NA NA NA 1q21.3 NA NA NA NA rs2771112 0.54 0.54 0.55 0.571885 0.4036 0.6895 0.5144 0.6475 0.5624 0.38 0.67 0.5 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358262 NA NA NA NA NA 0.558 NA 3.5964 1292 9 136083695 136083695 C T intronic OBP2B NA NA NA intronic ENSG00000171102 NA NA NA NA NA 9q34.2 NA NA NA NA rs3891088 0.41 0.41 0.4 0.379792 0.4036 0.5317 0.4207 0.2443 0.3528 0.42 0.54 0.42 0.23 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498418 NA NA NA NA NA 0.087 NA 3.5964 1292 10 38380828 38380828 A G intergenic ZNF33A,ZNF37A dist=31833;dist=2436 NA NA ncRNA_exonic ENSG00000235964 NA NA NA NA NA 10p11.1 NA NA NA NA rs2474565 0.43 0.43 0.425 0.40635 0.4036 0.5357 0.4481 0.4191 0.229 0.42 0.51 0.41 0.39 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.470043 NA NA NA NA NA 0.457 NA 3.5964 1292 12 106480450 106480450 A G intronic NUAK1 NA NA NA intronic ENSG00000074590 NA NA NA NA NA 12q23.3 NA NA NA NA rs2251027 0.39 0.39 0.357 0.409545 0.4036 0.4405 0.4741 0.3555 0.411 0.4 0.43 0.42 0.32 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.402345 NA NA NA NA NA 0.341 NA 3.5964 1292 14 58060586 58060586 C T intronic SLC35F4 NA NA NA intronic ENSG00000151812 NA NA NA NA NA 14q22.3 NA NA NA NA rs180872 0.29 0.29 0.291 0.279553 0.4036 0.1171 0.4813 0.1566 0.3425 0.41 0.12 0.48 0.18 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062252 NA NA NA NA NA 0.268 NA 3.5964 1292 19 9015438 9015438 A C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs34556045 0.33 0.33 NA 0.323882 0.4036 0.3234 0.3646 0.2035 0.3763 0.4 0.3 0.38 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245914 NA NA NA NA NA NA NA 3.5964 1292 19 19022007 19022007 C A intronic COPE NA NA NA intronic ENSG00000105669,ENSG00000268193 NA NA NA NA NA 19p13.11 NA NA NA NA rs1468462 0.27 0.27 0.25 0.23123 0.4036 0.1607 0.5058 0.034 0.1984 0.4 0.17 0.49 0.05 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429792 NA NA NA NA NA 0.181 NA 3.5964 1292 15 74177071 74177071 C A intronic TBC1D21 NA NA NA intronic ENSG00000167139 NA NA NA NA NA 15q24.1 NA NA NA NA rs72745335 0.09 0.09 0.069 0.106829 0.1441 0.0526 0.1268 0.0113 0.2393 0.14 0.06 0.14 0.02 0.1331 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374617 NA NA 0.126484 0.02525 NA 0.116 NA 3.596316 1292 9 134358719 134358719 G A intronic PRRC2B NA NA NA intronic ENSG00000130723 NA NA NA NA NA 9q34.13 NA NA NA NA rs41317004 0.07 0.07 0.053 0.0477236 0.16 0.001 0.0634 0.0061 0.0256 0.16 0.0017 0.07 0.0041 0.1092 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81685 NA NA 0.13456 0.020823 NA 0.029 NA 3.59624 1292 12 21713308 21713308 T A intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA Name=GR Name=66 NA rs4639981 0.77 0.77 0.768 0.754593 0.8072 0.7629 0.7896 0.643 0.818 0.82 0.77 0.78 0.68 0.7896 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690545 NA NA 0.807209 0.683159 NA 0.616 NA 3.595991 1292 1 32203163 32203163 C G intronic BAI2 NA NA NA intronic ENSG00000121753 NA NA NA NA NA 1p35.2 NA NA NA NA rs2271931 0.1 0.1 0.073 0.138379 0.1123 0.1141 0.17 0.0333 0.3098 0.12 0.1 0.17 0.03 0.162 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129412 NA NA 0.129767 0.046527 NA 0.116 NA 3.595933 1292 3 149087714 149087714 T C intronic TM4SF1 NA NA NA UTR3 ENSG00000169908 ENST00000472441:c.*1733A>G NA NA NA NA 3q25.1 NA Name=Pol2 Name=53 NA rs6776940 0.89 0.89 0.883 0.892372 0.837 0.8641 0.9222 0.9697 0.8528 0.84 0.88 0.92 0.96 0.8771 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392493 NA NA 0.856711 0.953224 NA 0.841 NA 3.5958557 1292 10 96044734 96044734 C A ncRNA_intronic PLCE1-AS1 NA NA NA ncRNA_intronic ENSG00000268894 NA NA NA NA NA 10q23.33 NA NA NA NA rs3736901 0.27 0.27 0.216 0.230232 0.3668 0.1617 0.5101 0.0212 0.2444 0.4 0.18 0.46 0.04 0.3431 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978893 NA NA 0.360982 0.069722 NA 0.246 NA 3.5957846 1292 8 26441275 26441275 A G intronic DPYSL2 NA NA NA intronic ENSG00000092964 NA NA NA NA NA 8p21.2 NA NA Name=10 NA rs415524 0.49 0.49 0.517 0.535743 0.4801 0.2946 0.4308 0.7504 0.6258 0.47 0.31 0.45 0.75 0.4669 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497745 NA NA 0.457326 0.685202 NA 0.616 NA 3.595674 1292 17 42155838 42155838 G A intronic HDAC5 NA NA NA intronic ENSG00000108840 NA NA NA NA NA 17q21.31 NA NA NA NA rs9913925 0.13 0.13 0.114 0.116613 0.1262 0.0069 0.0836 0.2685 0.0378 0.12 0.01 0.09 0.3 0.1342 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212143 NA NA 0.144103 0.226282 NA 0.123 NA 3.595497 1292 3 10452231 10452231 G A intronic ATP2B2 NA NA NA intronic ENSG00000157087 NA NA NA NA NA 3p25.3 NA NA NA NA rs34907 0.55 0.55 0.541 0.560903 0.4046 0.9643 0.4164 0.3714 0.6646 0.41 0.98 0.41 0.37 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435549 NA NA NA NA NA 0.471 NA 3.5954 1292 3 52851137 52851137 T C intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs2240917 0.5 0.5 0.518 0.507788 0.4046 0.37 0.5576 0.7042 0.455 0.41 0.43 0.57 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55663 NA NA NA NA NA 0.486 NA 3.5954 1292 3 52854186 52854186 A C intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs2239548 0.5 0.5 0.486 0.508187 0.4046 0.371 0.5576 0.705 0.455 0.41 0.43 0.57 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339988 NA NA NA NA NA 0.464 NA 3.5954 1292 4 2833966 2833966 G A intronic SH3BP2 NA NA NA intronic ENSG00000087266 NA NA NA NA NA 4p16.3 NA NA NA NA rs231396 0.34 0.34 0.304 0.34385 0.4046 0.4196 0.4035 0.1044 0.4847 0.42 0.4 0.42 0.12 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466574 NA NA NA NA NA 0.341 NA 3.5954 1292 4 100261952 100261952 G A intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs1693471 0.24 0.24 0.211 0.214257 0.4046 0.0764 0.2709 0.0991 0.2761 0.41 0.07 0.31 0.12 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243914 NA NA NA NA NA 0.232 NA 3.5954 1292 4 100263778 100263778 T C intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs1789911 0.24 0.24 0.198 0.214457 0.4046 0.0764 0.2709 0.0998 0.2761 0.42 0.07 0.31 0.12 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880183 NA NA NA NA NA 0.232 NA 3.5954 1292 4 100263834 100263834 C T intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs1693481 0.24 0.24 0.194 0.214657 0.4046 0.0764 0.2709 0.1006 0.2761 0.41 0.07 0.31 0.12 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118575 NA NA NA NA NA 0.232 NA 3.5954 1292 4 100268049 100268049 T G intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs1693431 0.24 0.24 0.199 0.214457 0.4046 0.0764 0.2709 0.0998 0.2761 0.42 0.07 0.31 0.12 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327106 NA NA NA NA NA 0.232 NA 3.5954 1292 6 168317994 168317994 C T intronic MLLT4 NA NA NA intronic ENSG00000130396 NA NA NA NA NA 6q27 NA NA NA NA rs9364207 0.52 0.52 0.513 0.547923 0.4046 0.7956 0.5533 0.3911 0.6483 0.42 0.78 0.55 0.36 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140987 NA NA NA NA NA 0.406 NA 3.5954 1292 14 58060598 58060598 C G intronic SLC35F4 NA NA NA intronic ENSG00000151812 NA NA NA NA NA 14q22.3 NA NA NA NA rs238377 0.35 0.35 0.364 0.342851 0.4046 0.1161 0.4957 0.3896 0.3415 0.41 0.12 0.49 0.42 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293901 NA NA NA NA NA 0.312 NA 3.5954 1292 16 29857316 29857316 G A intronic MVP NA NA NA intronic ENSG00000013364 NA NA NA NA NA 16p11.2 NA NA NA NA rs4787480 0.13 0.13 0.124 0.127995 0.1292 0.0357 0.085 0.2443 0.0951 0.13 0.04 0.1 0.26 0.1282 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588556 NA NA 0.147209 0.238724 NA 0.167 NA 3.595391 1292 14 100376715 100376715 G A intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA NA NA NA rs2145859 0.07 0.07 0.062 0.0455272 0.1441 NA 0.0807 0.0045 0.0215 0.14 NA 0.09 0.01 0.1081 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331251 NA NA 0.152558 0.031321 NA 0.101 NA 3.595242 1292 22 42139078 42139078 A G intronic MEI1 NA NA NA intronic ENSG00000167077 NA NA NA NA NA 22q13.2 NA Name=CTCF Name=5 NA rs5751148 0.84 0.84 0.87 0.840655 0.8022 0.9355 0.5879 0.9796 0.774 0.81 0.94 0.58 0.97 0.7905 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265147 NA NA 0.812157 0.951372 NA 0.862 NA 3.595143 1293 10 12140030 12140030 C G intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA Name=JunD Name=37 NA rs10906076 0.72 0.72 0.717 0.720847 0.8191 0.7044 0.6844 0.5446 0.9008 0.82 0.7 0.72 0.59 0.7737 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701828 NA NA 0.812209 0.592828 NA 0.703 NA 3.594991 1293 22 20731566 20731566 C G intergenic RIMBP3,ZNF74 dist=269780;dist=16839 NA NA intronic ENSG00000161133 NA NA NA NA NA 22q11.21 NA NA NA NA rs61752242 0.03 0.03 0.021 0.0225639 0.0408 NA 0.0533 0.0121 0.0194 0.04 NA 0.07 0.01 0.0309 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.539304 2.539304 NA NA NA NA 0.014 NA 3.5949667 1293 12 21621737 21621737 A G UTR3 PYROXD1 NM_024854:c.*49A>G NA NA UTR3 ENSG00000121350 ENST00000375266:c.*1478A>G,ENST00000240651:c.*49A>G,ENST00000538582:c.*49A>G NA NA NA NA 12p12.1 NA NA NA NA rs12422251 0.33 0.33 0.281 0.336462 0.3668 0.2619 0.3775 0.3381 0.3507 0.36 0.28 0.38 0.32 0.3716 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.0133 NA NA NA NA NA 0.319 NA 3.5949334 1293 1 228505699 228505699 T C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000284548:exon53:c.T13956C:p.G4652G,ENSG00000154358:ENST00000366709:exon53:c.T5313C:p.G1771G,ENSG00000154358:ENST00000422127:exon53:c.T13956C:p.G4652G,ENSG00000154358:ENST00000366707:exon59:c.T6858C:p.G2286G,ENSG00000154358:ENST00000570156:exon64:c.T16827C:p.G5609G NA NA 1q42.13 NA NA NA NA rs1188728 0.74 0.74 0.717 0.705871 0.674 0.748 0.719 0.8888 0.4387 0.67 0.74 0.72 0.86 0.6974 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364459 NA NA 0.700803 0.856674 NA 0.674 NA 3.5944636 1293 13 101757036 101757036 G T intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA NA NA rs41281138 0.09 0.09 0.084 0.10004 0.1362 0.0655 0.1167 0.087 0.1043 0.11 0.05 0.14 0.09 0.121 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.296064 NA NA 0.148372 0.092147 NA 0.058 NA 3.594428 1293 2 26997031 26997031 G A intronic SLC35F6 NA NA NA intronic ENSG00000213699 NA NA NA NA NA 2p23.3 NA NA NA NA rs13007156 0.29 0.29 0.25 0.268171 0.4056 0.1607 0.4712 0.1278 0.2832 0.4 0.16 0.46 0.14 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883566 NA NA NA NA NA 0.341 NA 3.5944 1293 4 877625 877625 G A intronic GAK NA NA NA intronic ENSG00000178950 NA NA NA NA NA 4p16.3 NA NA NA NA rs3736084 0.38 0.38 0.405 0.401558 0.4056 0.4187 0.4193 0.3631 0.4192 0.4 0.37 0.4 0.36 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678924 NA NA NA NA NA 0.42 NA 3.5944 1293 5 1324121 1324121 G A intronic CLPTM1L NA NA NA intronic ENSG00000049656 NA NA NA NA NA 5p15.33 NA NA NA NA rs414965 0.35 0.35 0.339 0.321086 0.4056 0.1905 0.281 0.4894 0.1697 0.43 0.16 0.31 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385866 NA NA NA NA NA 0.391 NA 3.5944 1293 7 12263799 12263799 T C intronic TMEM106B NA NA NA intronic ENSG00000106460 NA NA NA NA NA 7p21.3 NA NA NA NA rs11509137 0.44 0.44 0.519 0.595048 0.4056 0.6508 0.5692 0.6793 0.637 0.32 0.57 0.43 0.47 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322722 NA NA NA NA NA NA NA 3.5944 1293 7 99585150 99585150 G T intergenic AZGP1P1,ZKSCAN1 dist=3290;dist=28069 NA NA ncRNA_exonic ENSG00000214313 NA NA NA NA NA 7q22.1 NA NA NA NA rs7803714 0.41 0.41 0.358 0.381789 0.4056 0.6339 0.4914 0.1127 0.3834 0.41 0.65 0.43 0.12 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439697 NA 1 NA NA NA 0.333 NA 3.5944 1293 7 143036548 143036548 T A intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA NA NA NA rs6464542 0.41 0.41 0.419 0.414537 0.4056 0.2768 0.3098 0.5877 0.4059 0.4 0.26 0.36 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.081003 NA NA NA NA NA 0.5 NA 3.5944 1293 8 69016055 69016055 A G intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA rs13262734 0.45 0.45 0.516 0.503794 0.4056 0.4633 0.4669 0.6089 0.5307 0.37 0.44 0.43 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529161 NA NA NA NA NA 0.551 NA 3.5944 1293 14 107099502 107099502 T C intergenic LINC00221,NONE dist=147973;dist=NONE NA NA ncRNA_intronic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs112024498 0.49 0.49 0.391 0.571685 0.4056 0.5278 0.4467 0.6997 0.7035 0.38 0.46 0.47 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843459 NA NA NA NA NA 0.21 NA 3.5944 1293 14 107099511 107099511 C A intergenic LINC00221,NONE dist=147982;dist=NONE NA NA ncRNA_intronic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs72622061 0.51 0.51 0.427 0.572484 0.4056 0.5298 0.4467 0.7012 0.7035 0.4 0.5 0.5 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.248516 NA NA NA NA NA 0.333 NA 3.5944 1293 15 68695448 68695448 T C intronic ITGA11 NA NA NA intronic ENSG00000137809 NA NA NA NA NA 15q23 NA NA NA NA rs4777049 0.45 0.45 0.408 0.45607 0.4056 0.5536 0.5245 0.3298 0.5297 0.43 0.55 0.48 0.33 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380432 NA NA NA NA NA 0.428 NA 3.5944 1293 15 90252238 90252238 C T intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA NA NA rs2028298 0.35 0.35 0.359 0.382188 0.4056 0.2083 0.3573 0.4675 0.4397 0.41 0.22 0.38 0.4 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679451 NA NA NA NA NA 0.522 NA 3.5944 1293 19 12772263 12772263 T C intronic MAN2B1 NA NA NA intronic ENSG00000104774 NA NA NA NA NA 19p13.2 NA NA NA NA rs2303731 0.3 0.3 0.318 0.308906 0.4056 0.0615 0.2767 0.5113 0.2137 0.4 0.05 0.31 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29257 NA NA NA NA NA 0.362 NA 3.5944 1293 19 17056676 17056676 T C intronic CPAMD8 NA NA NA intronic ENSG00000160111 NA NA NA NA NA 19p13.11 NA NA NA NA rs8105356 0.46 0.46 0.449 0.419529 0.4056 0.374 0.389 0.6293 0.2188 0.42 0.38 0.4 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704043 NA NA NA NA NA 0.478 NA 3.5944 1293 19 41010045 41010045 G T intronic SPTBN4 NA NA NA intronic ENSG00000160460 NA NA NA NA NA 19q13.2 NA NA NA NA rs10420988 0.16 0.16 NA 0.125 0.2107 0.1042 0.1239 0.0711 0.1319 0.23 0.12 0.17 0.1 0.1913 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616133 NA NA 0.00366 0.001883 NA NA NA 3.59434 1293 17 5392161 5392161 C T UTR5 MIS12 NM_001258220:c.-22C>T,NM_001258219:c.-22C>T,NM_001258218:c.-22C>T,NM_001258217:c.-22C>T,NM_024039:c.-22C>T NA NA UTR5 ENSG00000167842 ENST00000576988:c.-22C>T,ENST00000576570:c.-22C>T,ENST00000573759:c.-22C>T,ENST00000381165:c.-22C>T NA NA NA NA 17p13.2 NA NA NA NA rs929261 0.33 0.33 0.356 0.352436 0.2376 0.3036 0.1527 0.6014 0.3262 0.24 0.31 0.17 0.6 0.2685 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36932 1.36932 NA 0.23314 0.530867 NA 0.333 NA 3.5940934 1293 2 166514165 166514165 C G intronic CSRNP3 NA NA NA intronic ENSG00000178662 NA NA NA NA NA 2q24.3 NA NA NA NA rs12620509 0.43 0.43 0.424 0.448682 0.4066 0.5645 0.4308 0.3563 0.5102 0.42 0.54 0.44 0.32 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326058 NA NA NA NA NA 0.428 NA 3.5934 1293 2 219529348 219529348 C T intronic RNF25 NA NA NA intronic ENSG00000163481 NA NA NA NA NA 2q35 NA NA NA NA rs2243911 0.47 0.47 0.516 0.482827 0.4066 0.1796 0.4107 0.9281 0.3231 0.4 0.21 0.4 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.57403 NA NA NA NA NA 0.63 NA 3.5934 1293 14 107099559 107099559 A G intergenic LINC00221,NONE dist=148030;dist=NONE NA NA ncRNA_exonic ENSG00000253132 NA NA NA NA NA 14q32.33 NA NA NA NA rs111398850 0.49 0.49 0.428 0.572883 0.4066 0.5317 0.4481 0.7005 0.7025 0.38 0.49 0.5 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.898509 1.898509 NA NA NA NA 0.29 NA 3.5934 1293 17 7801509 7801509 C A intronic CHD3 NA NA NA intronic ENSG00000170004 NA NA NA NA NA 17p13.1 NA NA NA NA rs9889962 0.6 0.6 0.588 0.638578 0.4066 0.9653 0.6427 0.5 0.7249 0.41 0.95 0.56 0.53 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.261816 1.261816 NA NA NA NA 0.572 NA 3.5934 1293 17 25887571 25887571 T C intronic KSR1 NA NA NA intronic ENSG00000141068 NA NA NA NA NA 17q11.2 NA NA NA NA rs61054489 0.33 0.33 0.278 0.264377 0.4066 0.4067 0.3732 0.059 0.1718 0.43 0.41 0.35 0.07 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648925 NA NA NA NA NA 0.13 NA 3.5934 1293 17 48148413 48148413 G A intronic ITGA3 NA NA NA intronic ENSG00000005884 NA NA NA NA NA 17q21.33 NA NA NA NA rs2301628 0.21 0.21 0.197 0.166534 0.4066 0.0873 0.2522 0.034 0.1196 0.42 0.07 0.25 0.04 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198861 NA NA NA NA NA 0.275 NA 3.5934 1293 1 21896918 21896918 G A intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs2275376 0.28 0.28 0.271 0.26857 0.1203 0.4544 0.268 0.27 0.228 0.13 0.49 0.26 0.28 0.1756 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.010811 NA NA 0.11093 0.255561 NA 0.188 NA 3.59317 1293 6 31382964 31382964 A G UTR3 MICA NM_001177519:c.*205A>G,NM_000247:c.*48A>G NA NA ncRNA_UTR3 ENSG00000204520 NA NA NA NA NA 6p21.33 NA NA NA NA rs9266829 0.36 0.36 0.277 0.358227 0.3141 0.3006 0.4049 0.4554 0.2986 0.32 0.28 0.46 0.46 0.3093 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313004 NA NA 0.284098 0.398844 NA 0.261 NA 3.592502 1293 4 40108750 40108750 C T intronic N4BP2 NA NA NA intronic ENSG00000078177 NA NA NA NA NA 4p14 NA NA NA NA rs1704154 0.42 0.42 0.378 0.467452 0.4076 0.496 0.513 0.3654 0.6053 0.41 0.45 0.49 0.36 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79757 NA NA NA NA NA 0.435 NA 3.5924 1293 10 134660951 134660951 A C intronic TTC40 NA NA NA intronic ENSG00000171811 NA NA NA NA NA 10q26.3 NA NA NA NA rs2892211 0.34 0.34 0.242 0.339257 0.4076 0.2679 0.5259 0.1914 0.41 0.4 0.27 0.5 0.2 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345859 NA NA NA NA NA 0.203 NA 3.5924 1293 20 47843146 47843146 A T intronic DDX27 NA NA NA intronic ENSG00000124228 NA NA NA NA NA 20q13.13 NA NA NA NA rs6067024 0.3 0.3 0.268 0.279153 0.4076 0.3204 0.3285 0.0832 0.3344 0.41 0.29 0.35 0.11 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264805 NA NA NA NA NA 0.232 NA 3.5924 1293 6 160969738 160969738 C G intronic LPA NA NA NA intronic ENSG00000198670 NA NA NA NA Name=Coronary heart disease 6q25.3 NA NA NA NA rs10755578 0.41 0.41 0.422 0.409545 0.492 0.4444 0.3069 0.3359 0.4611 0.48 0.44 0.32 0.34 0.4473 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485305 NA NA 0.468597 0.348774 NA 0.312 NA 3.592103 1293 1 21900146 21900146 C G intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs75829132 0.28 0.28 0.229 0.271765 0.1252 0.4484 0.2709 0.2821 0.227 0.13 0.49 0.26 0.29 0.1779 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.129067 NA NA 0.104884 0.233318 NA 0.181 NA 3.592016 1293 9 134015899 134015899 C G intronic NUP214 NA NA NA ncRNA_intronic ENSG00000236986 NA NA NA NA NA 9q34.13 NA NA NA NA rs2281902 0.3 0.3 0.308 0.311102 0.2356 0.4206 0.1758 0.3359 0.3384 0.23 0.42 0.18 0.35 0.2646 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10328 NA NA 0.241163 0.316818 ID=COSN168686;OCCURENCE=1(large_intestine) 0.406 NA 3.5919703 1293 6 32548662 32548662 T C intronic HLA-DRB1 NA NA NA intronic ENSG00000196126 NA NA NA NA NA 6p21.32 NA NA NA NA rs34368612 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4081 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276433 NA NA NA NA NA 0.297 NA 3.5919 1293 18 29040756 29040756 T A intronic DSG3 NA NA NA intronic ENSG00000134757 NA NA NA NA NA 18q12.1 NA NA NA NA rs3737364 0.14 0.14 0.128 0.13758 0.1421 0.0833 0.1095 0.2118 0.1084 0.13 0.09 0.12 0.21 0.1413 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160374 NA NA 0.124796 0.199678 NA 0.239 NA 3.591804 1293 10 24447600 24447600 A G intronic KIAA1217 NA NA NA ncRNA_exonic ENSG00000223928 NA NA NA NA NA 10p12.2 NA NA NA NA rs1529529 0.59 0.59 0.56 0.586262 0.7416 0.3998 0.6124 0.5197 0.6902 0.73 0.43 0.6 0.54 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665044 NA NA NA NA NA 0.529 NA 3.5917333 1293 15 25326425 25326425 A T upstream SNORD116-15 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs1972694 0.14 0.14 0.12 0.177716 0.1839 0.1369 0.2233 0.0507 0.3528 0.18 0.15 0.19 0.05 0.2028 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299428 NA NA 0.188348 0.074201 NA 0.109 NA 3.5916186 1293 7 44281475 44281475 T A intronic CAMK2B NA NA NA intronic ENSG00000058404 NA NA NA NA NA 7p13 NA NA NA NA rs2075073 0.3 0.3 0.254 0.291733 0.4085 0.2202 0.2925 0.1619 0.4202 0.39 0.24 0.33 0.2 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068563 NA NA NA NA NA 0.319 NA 3.5915 1293 11 5877909 5877909 C T downstream OR52E8 NA NA NA UTR3 ENSG00000183269 ENST00000537935:c.*70G>A NA NA NA NA 11p15.4 NA NA NA NA rs12417880 0.4 0.4 0.408 0.384784 0.4085 0.373 0.4164 0.41 0.316 0.42 0.37 0.43 0.38 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07599 NA NA NA NA NA 0.384 NA 3.5915 1293 19 8174724 8174724 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs11672038 0.39 0.39 0.363 0.426518 0.4085 0.5139 0.3602 0.2738 0.6084 0.41 0.5 0.37 0.24 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777288 NA NA NA NA NA 0.435 NA 3.5915 1293 19 58288169 58288169 C T intronic ZNF586 NA NA NA intronic ENSG00000083828 NA NA NA NA NA 19q13.43 NA NA NA NA rs2285615 0.53 0.53 0.547 0.485823 0.4085 0.4702 0.5029 0.7595 0.1994 0.41 0.51 0.51 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365926 NA NA NA NA NA 0.514 NA 3.5915 1293 22 30200893 30200893 G C intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs2074706 0.37 0.37 0.372 0.296526 0.4085 0.5675 0.2522 0.143 0.1411 0.42 0.57 0.29 0.13 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.874484 3.874484 NA NA NA NA 0.304 NA 3.5915 1293 7 540741 540741 G A intronic PDGFA NA NA NA intronic ENSG00000197461 NA NA NA NA NA 7p22.3 NA NA Name=2 NA rs1800814 0.51 0.51 0.504 0.48143 0.4553 0.495 0.5072 0.556 0.3753 0.47 0.5 0.54 0.55 0.4819 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535473 NA NA 0.471369 0.561734 NA 0.507 NA 3.591431 1293 20 13830102 13830102 C T UTR3 SEL1L2 NM_001271539:c.*29G>A NA NA UTR3 ENSG00000101251 ENST00000475649:c.*351G>A,ENST00000378072:c.*29G>A,ENST00000423870:c.*1680G>A,ENST00000284951:c.*29G>A NA NA NA NA 20p12.1 NA NA NA NA rs2073289 0.16 0.16 0.135 0.142572 0.2594 0.0913 0.2363 0.0121 0.1851 0.27 0.09 0.23 0.02 0.2266 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93265 NA NA 0.256089 0.048957 NA 0.196 NA 3.5912444 1293 4 55133936 55133936 C T intronic PDGFRA NA NA NA intronic ENSG00000134853,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs28489067 0.2 0.2 0.155 0.221845 0.1203 0.2004 0.317 0.2542 0.2372 0.13 0.21 0.27 0.23 0.1813 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.172293 3.172293 NA 0.107193 0.19655 NA 0.261 NA 3.591207 1293 17 48245269 48245269 C A intronic SGCA NA NA NA intronic ENSG00000108823 NA NA NA NA NA 17q21.33 NA NA NA NA rs59944537 0.11 0.11 0.101 0.122404 0.1292 0.0337 0.196 0.143 0.1268 0.13 0.04 0.17 0.14 0.1419 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538421 NA NA 0.137907 0.150704 NA 0.174 NA 3.590993 1293 3 182673196 182673196 C T intronic DCUN1D1 NA NA NA ncRNA_exonic ENSG00000244346 NA NA NA NA NA 3q26.33 NA NA NA NA rs7641401 0.59 0.59 0.569 0.610823 0.7425 0.2708 0.7017 0.7398 0.5869 0.72 0.25 0.65 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512039 NA NA NA NA NA 0.609 NA 3.5908333 1293 3 182673259 182673259 C T intronic DCUN1D1 NA NA NA ncRNA_exonic ENSG00000244346 NA NA NA NA NA 3q26.33 NA NA NA NA rs7641467 0.58 0.58 0.574 0.596046 0.7425 0.2708 0.7003 0.6853 0.5859 0.72 0.25 0.65 0.69 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42808 NA NA NA NA NA 0.572 NA 3.5908333 1293 1 1233941 1233941 T C intronic ACAP3 NA NA NA intronic ENSG00000131584 NA NA NA NA NA 1p36.33 NA NA NA NA rs1739855 0.46 0.46 0.385 0.496805 0.0825 0.7659 0.2608 0.8169 0.3804 0.09 0.73 0.27 0.84 0.2527 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725531 NA NA 0.07404 0.712369 NA 0.384 NA 3.59076 1293 1 3593006 3593006 G T intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA NA NA NA rs12028205 0.35 0.35 0.287 0.365415 0.4095 0.3056 0.5159 0.2345 0.4519 0.42 0.3 0.48 0.22 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610623 NA NA NA NA NA 0.261 NA 3.5905 1293 1 179503806 179503806 G A intronic AXDND1 NA NA NA intronic ENSG00000162779 NA NA NA NA NA 1q25.2 NA NA NA NA rs6425572 0.36 0.36 0.324 0.352636 0.4095 0.4256 0.3963 0.146 0.4673 0.4 0.46 0.43 0.13 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796873 NA NA NA NA NA 0.391 NA 3.5905 1293 1 233489499 233489499 A G intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA NA NA rs7539016 0.5 0.5 0.48 0.510383 0.4095 0.5595 0.6153 0.5159 0.4816 0.41 0.55 0.58 0.53 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55385 NA NA NA NA ID=COSN163476;OCCURENCE=1(breast) 0.529 NA 3.5905 1293 1 236275380 236275380 A G intergenic NID1,GPR137B dist=46899;dist=30452 NA NA ncRNA_exonic ENSG00000235371 NA NA NA NA NA 1q42.3 NA NA NA NA rs10924217 0.51 0.51 0.491 0.520367 0.4095 0.4683 0.5346 0.7534 0.363 0.41 0.46 0.49 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58504 NA NA NA NA NA 0.464 NA 3.5905 1293 2 38542573 38542573 T C intronic ATL2 NA NA NA intronic ENSG00000119787 NA NA NA NA NA 2p22.2 NA NA NA NA rs12712583 0.44 0.44 0.441 0.490016 0.4095 0.1944 0.389 0.8238 0.498 0.41 0.19 0.4 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297578 NA NA NA NA NA 0.478 NA 3.5905 1293 6 135511108 135511108 A T intronic MYB NA NA NA intronic ENSG00000118513 NA NA NA NA NA 6q23.3 NA NA NA NA rs210796 0.38 0.38 0.34 0.38738 0.4095 0.4375 0.428 0.3086 0.3906 0.41 0.41 0.41 0.27 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363336 NA NA NA NA NA 0.42 NA 3.5905 1293 12 52710198 52710198 C T intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs55722266 0.36 0.36 0.356 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749977 NA NA NA NA NA 0.406 NA 3.5905 1293 12 52710897 52710897 T C intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2852463 0.31 0.31 0.328 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.35 0.17 0.3 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064687 NA NA NA NA ID=COSN164256;OCCURENCE=1(breast) NA NA 3.5905 1293 12 52710898 52710898 G A intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2857668 0.31 0.31 0.324 0.375599 0.4095 0.1885 0.317 0.5008 0.4059 0.34 0.17 0.3 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683638 NA NA NA NA ID=COSN164257;OCCURENCE=1(breast) NA NA 3.5905 1293 12 52710913 52710913 A G intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2852462 0.36 0.36 0.349 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04735 NA NA NA NA ID=COSN164258;OCCURENCE=1(breast) 0.428 NA 3.5905 1293 14 94519199 94519199 C T intronic DDX24 NA NA NA intronic ENSG00000089737 NA NA NA NA NA 14q32.12 NA NA NA NA rs3790045 0.52 0.52 0.528 0.491813 0.4095 0.4315 0.5346 0.6853 0.3466 0.42 0.48 0.5 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459278 NA NA NA NA NA 0.565 NA 3.5905 1293 14 94527525 94527525 C T intronic DDX24 NA NA NA intronic ENSG00000089737 NA NA NA NA NA 14q32.12 NA NA NA NA rs11846519 0.55 0.55 0.56 0.535144 0.4095 0.4315 0.549 0.8411 0.3476 0.42 0.48 0.51 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907702 NA NA NA NA NA 0.587 NA 3.5905 1293 14 101011209 101011209 A G intronic BEGAIN NA NA NA intronic ENSG00000183092 NA NA NA NA NA 14q32.2 NA NA NA NA rs4074037 0.65 0.65 0.664 0.64377 0.4095 0.7034 0.6182 0.969 0.4018 0.42 0.73 0.62 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596172 NA NA NA NA NA 0.601 NA 3.5905 1293 16 5415915 5415915 A G intergenic FAM86A,RBFOX1 dist=268126;dist=653217 NA NA ncRNA_exonic ENSG00000261007 NA NA NA NA NA 16p13.3 NA NA NA NA rs490052 0.44 0.44 0.403 0.417931 0.4095 0.6865 0.4885 0.1634 0.4438 0.41 0.68 0.46 0.17 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282289 NA NA NA NA NA 0.355 NA 3.5905 1293 17 5415380 5415380 G A intronic NLRP1 NA NA NA intronic ENSG00000091592 NA NA NA NA NA 17p13.2 NA NA NA NA rs4790774 0.54 0.54 0.535 0.560903 0.4095 0.874 0.3674 0.4637 0.6626 0.42 0.86 0.37 0.46 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.169631 NA NA NA NA NA 0.471 NA 3.5905 1293 17 80763983 80763983 C T intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA NA NA NA rs582192 0.37 0.37 0.356 0.347843 0.4095 0.3661 0.3256 0.3245 0.3129 0.42 0.38 0.37 0.3 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702008 NA NA NA NA NA 0.377 NA 3.5905 1293 4 55133959 55133959 C T intronic PDGFRA NA NA NA intronic ENSG00000134853,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs28650939 0.2 0.2 0.18 0.232029 0.1213 0.1994 0.3473 0.2678 0.2495 0.13 0.2 0.27 0.24 0.1765 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285202 NA NA 0.111737 0.229224 NA 0.261 NA 3.590463 1293 1 21896887 21896887 G T intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs2275377 0.28 0.28 0.26 0.267572 0.1203 0.4544 0.268 0.2663 0.228 0.13 0.49 0.26 0.28 0.1781 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764851 NA NA 0.111163 0.251475 NA 0.174 NA 3.590437 1293 9 27218715 27218715 C A intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs10121367 0.24 0.24 0.242 0.269169 0.1829 0.1895 0.2089 0.4766 0.2025 0.2 0.18 0.18 0.4 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425308 NA NA 0.226901 0.461705 NA 0.275 NA 3.590199 1293 6 138971281 138971281 C G intergenic NHSL1,FLJ46906 dist=77613;dist=41524 NA NA intronic ENSG00000135540 NA NA NA NA NA 6q23.3 NA NA NA NA rs75413859 0.04 0.04 0.029 0.0245607 0.0765 NA 0.0461 0.0023 0.0112 0.09 NA 0.06 0.002 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003113 NA NA NA NA NA 0.022 NA 3.5901667 1293 12 10313358 10313358 C G intronic OLR1 NA NA NA intronic ENSG00000173391 NA NA NA NA NA 12p13.2 NA NA Name=19 NA rs3736232 0.35 0.35 0.303 0.31869 0.5109 0.2381 0.5403 0.1732 0.2434 0.5 0.23 0.48 0.15 0.4227 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082793 NA NA 0.476512 0.223105 NA 0.312 NA 3.589888 1293 22 42139054 42139054 G A intronic MEI1 NA NA NA intronic ENSG00000167077 NA NA NA NA NA 22q13.2 NA Name=CTCF Name=5 NA rs5751147 0.84 0.84 0.875 0.840256 0.8012 0.9355 0.5879 0.9788 0.774 0.81 0.94 0.58 0.97 0.7971 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474057 NA NA 0.811888 0.951141 NA 0.862 NA 3.589812 1293 5 132939361 132939361 A G intronic FSTL4 NA NA NA intronic ENSG00000053108 NA NA NA NA NA 5q31.1 NA NA NA NA rs409855 0.44 0.44 0.44 0.460663 0.4105 0.3423 0.3473 0.6127 0.5092 0.43 0.37 0.39 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023513 NA NA NA NA NA 0.341 NA 3.5895 1293 6 161319672 161319672 G A intergenic PLG,MAP3K4 dist=144587;dist=93150 NA NA ncRNA_intronic ENSG00000224371 NA NA NA NA NA 6q26 NA NA NA NA rs11970528 0.34 0.34 0.335 0.317891 0.4105 0.1696 0.3069 0.4054 0.2648 0.41 0.19 0.33 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015612 NA NA NA NA ID=COSN167928;OCCURENCE=1(large_intestine) 0.391 NA 3.5895 1293 7 64639926 64639926 C G intergenic CCT6P3,ZNF92 dist=104835;dist=198842 NA NA ncRNA_intronic ENSG00000164669 NA NA NA NA NA 7q11.21 NA NA NA NA rs80126668 NA NA NA 0.402556 0.4105 0.2748 0.4481 0.4743 0.3967 NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.298115 NA NA NA NA NA 0.007 NA 3.5895 1293 7 142469191 142469191 G A intergenic PRSS1,PRSS3P2 dist=8264;dist=9566 NA NA ncRNA_intronic ENSG00000250591 NA NA NA NA NA 7q34 NA NA NA NA rs13225332 0.56 0.56 0.574 0.610423 0.4105 0.7669 0.4697 0.6717 0.6718 0.41 0.75 0.46 0.66 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040734 NA NA NA NA NA 0.565 NA 3.5895 1293 8 145010305 145010305 A G intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs6988767 0.29 0.29 0.273 0.305312 0.4105 0.1458 0.3026 0.3215 0.3415 0.4 0.16 0.3 0.27 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.630266 1.630266 NA NA NA NA 0.312 NA 3.5895 1293 11 60706864 60706864 G A intronic SLC15A3 NA NA NA intronic ENSG00000110446 NA NA NA NA NA 11q12.2 NA NA NA NA rs554397 0.41 0.41 0.434 0.422524 0.4105 0.3165 0.4467 0.472 0.4601 0.41 0.32 0.45 0.47 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092193 NA NA NA NA NA 0.493 NA 3.5895 1293 11 92577031 92577031 C T intronic FAT3 NA NA NA intronic ENSG00000165323 NA NA NA NA NA 11q14.3 NA NA NA NA rs4753068 0.4 0.4 0.39 0.385982 0.4105 0.4464 0.4164 0.298 0.3957 0.4 0.47 0.41 0.31 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.910766 NA NA NA NA NA 0.406 NA 3.5895 1293 19 5219803 5219803 T C intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs12975955 0.38 0.38 0.346 0.376198 0.4105 0.5982 0.3127 0.1762 0.4274 0.39 0.61 0.28 0.17 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385139 NA NA NA NA NA 0.42 NA 3.5895 1293 20 60448675 60448675 C T intronic CDH4 NA NA NA intronic ENSG00000179242 NA NA NA NA NA 20q13.33 NA NA NA NA rs3829689 0.24 0.24 0.243 0.203474 0.4105 0.1181 0.2983 0.0401 0.2321 0.42 0.11 0.31 0.06 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074315 NA NA NA NA NA 0.29 NA 3.5895 1293 21 34708061 34708061 A G intronic IFNAR1 NA NA NA intronic ENSG00000142166 NA NA NA NA NA 21q22.11 NA NA NA NA rs2243594 0.37 0.37 0.363 0.362819 0.4105 0.3621 0.3674 0.3071 0.3865 0.41 0.36 0.36 0.31 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.555992 2.555992 NA NA NA NA 0.348 NA 3.5895 1293 4 104000973 104000973 G C intronic BDH2 NA NA NA intronic ENSG00000164038,ENSG00000164039 NA NA NA NA NA 4q24 NA NA NA NA rs12504262 0.22 0.22 0.216 0.266973 0.2078 0.1617 0.232 0.3654 0.3282 0.2 0.14 0.23 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844727 NA NA 0.202703 0.315751 NA 0.319 NA 3.589497 1293 19 5218836 5218836 G A intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs73543273 0.14 0.14 0.141 0.140974 0.1372 NA 0.1037 0.3124 0.0849 0.13 NA 0.09 0.34 0.1335 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542511 NA NA 0.139884 0.259419 NA 0.072 NA 3.589416 1293 19 41034912 41034912 G A intronic SPTBN4 NA NA NA intronic ENSG00000160460 NA NA NA NA NA 19q13.2 NA Name=GATA-1 NA NA rs1461008 0.35 0.35 0.381 0.323083 0.4732 0.0595 0.2867 0.441 0.3067 0.48 0.06 0.33 0.49 0.4179 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206008 NA NA 0.519651 0.439401 NA 0.319 NA 3.589249 1293 15 22929905 22929905 C G intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA Name=MafK_(ab50322) NA NA rs2305094 0.43 0.43 0.475 0.42512 0.4871 0.3155 0.5735 0.4818 0.2924 0.43 0.34 0.52 0.47 0.4652 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957481 NA NA 0.458488 0.475034 NA NA NA 3.589212 1293 21 44317003 44317003 T G intronic NDUFV3 NA NA NA intronic ENSG00000160194 NA NA NA NA NA 21q22.3 NA NA NA NA rs9974287 0.17 0.17 0.172 0.171326 0.1372 NA 0.098 0.4486 0.0603 0.13 NA 0.12 0.45 0.1299 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190692 NA NA 0.143837 0.391966 NA 0.217 NA 3.589063 1293 15 100692782 100692782 C G intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs7162227 0.11 0.11 0.082 0.0994409 0.1392 0.0804 0.1988 0.0212 0.1135 0.14 0.09 0.2 0.01 0.1347 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.454088 NA NA 0.137209 0.041307 NA 0.152 NA 3.588891 1293 12 40714009 40714009 A G intronic LRRK2 NA NA NA intronic ENSG00000188906 NA NA NA NA NA 12q12 NA NA NA NA rs11564205 0.11 0.11 0.118 0.123003 0.1412 0.001 0.0778 0.2118 0.1421 0.14 0.0017 0.09 0.21 0.1286 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145315 NA NA 0.14144 0.202208 NA 0.109 NA 3.58876 1293 19 49351149 49351149 C T intronic PLEKHA4 NA NA NA intronic ENSG00000105559 NA NA NA NA NA 19q13.33 NA NA NA NA rs28556985 0.07 0.07 0.067 0.0585064 0.1551 NA 0.072 0.0272 0.0521 0.15 NA 0.08 0.02 0.1054 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816575 NA NA 0.150814 0.051067 NA 0.116 NA 3.588686 1293 22 23077258 23077258 T C intergenic GGTLC2,MIR650 dist=86890;dist=88012 NA NA intronic ENSG00000211664 NA NA NA NA NA 22q11.22 NA NA NA NA rs451894 0.01 0.01 0.012 0.00958466 0.0298 0.002 0.013 NA 0.0072 0.03 0.0035 0.02 NA 0.0222 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574201 NA NA 0.026143 0.00579 NA 0.007 NA 3.5885237 1293 8 61851466 61851466 T C intergenic CHD7,LOC100130298 dist=70880;dist=27214 NA NA ncRNA_exonic ENSG00000255397 NA NA NA NA NA 8q12.2 NA NA NA NA rs3748648 0.32 0.32 0.267 0.258586 0.4115 0.2123 0.5317 0.1452 0.1084 0.41 0.23 0.51 0.14 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025538 NA NA NA NA NA 0.196 NA 3.5885 1293 4 36148837 36148837 T C intronic ARAP2 NA NA NA intronic ENSG00000047365 NA NA NA NA NA 4p14 NA NA NA NA rs73225587 0.35 0.35 0.293 0.32488 0.4115 0.4544 0.3559 0.0613 0.4366 0.43 0.47 0.36 0.07 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004663 NA NA NA NA NA 0.326 NA 3.5885 1293 6 128306769 128306769 C T intronic PTPRK NA NA NA intronic ENSG00000152894 NA NA NA NA NA 6q22.33 NA NA NA NA rs6919966 0.46 0.46 0.467 0.453874 0.4115 0.5139 0.4597 0.4735 0.4049 0.41 0.52 0.43 0.48 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807462 NA NA NA NA NA 0.399 NA 3.5885 1293 8 135613597 135613597 T C intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA NA NA rs894346 0.48 0.48 0.424 0.473243 0.4115 0.5476 0.6239 0.3661 0.498 0.41 0.55 0.6 0.4 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090652 NA NA NA NA NA 0.399 NA 3.5885 1293 8 135613624 135613624 A G intronic ZFAT NA NA NA intronic ENSG00000066827 NA NA NA NA NA 8q24.22 NA NA NA NA rs894347 0.48 0.48 0.43 0.473243 0.4115 0.5476 0.6239 0.3661 0.498 0.41 0.55 0.6 0.4 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822859 NA NA NA NA NA 0.326 NA 3.5885 1293 15 90252265 90252265 G T intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA NA NA rs4353458 0.35 0.35 0.378 0.384385 0.4115 0.2083 0.3573 0.4705 0.4407 0.41 0.22 0.38 0.4 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980112 NA NA NA NA NA 0.514 NA 3.5885 1293 22 38308291 38308291 C T intronic MICALL1 NA NA NA intronic ENSG00000100139 NA NA NA NA NA 22q13.1 NA NA NA NA rs1003689 0.36 0.36 0.372 0.357628 0.4115 0.1766 0.3761 0.4297 0.3783 0.42 0.18 0.41 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916373 NA NA NA NA NA 0.377 NA 3.5885 1293 15 49917341 49917341 G A UTR5 DTWD1 NM_001144955:c.-24G>A,NM_020234:c.-24G>A NA NA UTR5 ENSG00000104047 ENST00000403028:c.-24G>A,ENST00000329873:c.-24G>A,ENST00000557968:c.-24G>A,ENST00000558653:c.-24G>A,ENST00000557988:c.-24G>A,ENST00000559164:c.-24G>A,ENST00000560632:c.-24G>A,ENST00000559405:c.-24G>A,ENST00000251250:c.-24G>A NA NA NA NA 15q21.2 NA NA NA NA rs3210227 0.14 0.14 0.117 0.121006 0.2753 0.005 0.1571 0.0393 0.1667 0.27 0.01 0.17 0.04 0.2139 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431889 NA NA 0.255665 0.066055 NA 0.101 NA 3.5884684 1293 2 29416794 29416794 G A intronic ALK NA NA NA intronic ENSG00000171094 NA NA NA NA NA 2p23.2 NA NA NA NA rs17007646 0.16 0.16 0.163 0.160942 0.1531 0.001 0.121 0.407 0.0297 0.16 0.0017 0.11 0.39 0.1311 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629118 NA NA 0.127354 0.348923 NA 0.225 NA 3.588446 1293 6 35104018 35104018 C A intronic TCP11 NA NA NA intronic ENSG00000124678 NA NA NA NA NA 6p21.31 Score=797;Name=V$HNF1_C NA NA NA rs12661389 0.33 0.33 0.305 0.310903 0.4851 0.2599 0.4496 0.0234 0.4744 0.5 0.27 0.47 0.03 0.4605 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.695142 1.695142 NA 0.465992 0.096009 NA 0.246 NA 3.588408 1293 22 23077262 23077262 T C intergenic GGTLC2,MIR650 dist=86894;dist=88008 NA NA intronic ENSG00000211664 NA NA NA NA NA 22q11.22 NA NA NA NA rs451895 0.01 0.01 0.012 0.00958466 0.0298 0.002 0.013 NA 0.0072 0.03 0.0035 0.02 NA 0.0222 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465424 NA NA 0.026285 0.006041 NA 0.007 NA 3.5883817 1293 11 48997107 48997107 G A intergenic OR4A47,TRIM49B dist=485833;dist=56045 NA NA ncRNA_exonic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs2047941 0.22 0.22 0.19 0.272564 0.1799 0.4028 0.2363 0.1188 0.4673 0.18 0.36 0.2 0.13 0.2319 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041063 NA NA NA NA NA 0.21 NA 3.5882 1293 12 104489120 104489120 T C intronic HCFC2 NA NA NA intronic ENSG00000111727 NA NA NA NA NA 12q23.3 NA NA NA NA rs2272477 0.15 0.15 0.142 0.159744 0.1382 0.1756 0.1023 0.1725 0.1892 0.14 0.18 0.12 0.17 0.1485 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038317 NA NA 0.125262 0.167726 NA 0.145 NA 3.588038 1293 19 14975368 14975368 A G intergenic OR7A10,OR7A17 dist=22679;dist=15870 NA NA ncRNA_exonic ENSG00000172148 NA NA NA NA NA 19p13.12 NA NA NA NA rs10415965 0.76 0.76 0.76 0.765775 0.6869 0.9435 0.683 0.7375 0.7607 0.71 0.91 0.67 0.72 0.7253 0.91 0.06 T . . . . 0.467 N 1.000 P . . . . -1.048 T 0.000 T . -0.981 0.289 1.21 -0.043 -0.364 6.532 -0.98113 NA 0.1 NA NA NA 0.812 NA 3.5878 1293 11 61624414 61624414 T C intronic FADS2 NA NA NA intronic ENSG00000134824 NA NA NA NA NA 11q12.2 NA NA NA NA rs174602 0.39 0.39 0.349 0.422923 0.2127 0.3651 0.5245 0.7405 0.1973 0.21 0.27 0.51 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882621 NA NA 0.19956 0.656069 NA 0.471 NA 3.58774 1293 3 46982737 46982737 T C intronic CCDC12 NA NA NA intronic ENSG00000160799 NA NA NA NA NA 3p21.31 NA NA NA NA rs4682844 0.37 0.37 0.35 0.368011 0.4125 0.4841 0.3689 0.1974 0.4325 0.41 0.5 0.36 0.18 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085315 NA NA NA NA NA 0.297 NA 3.5875 1293 8 17945818 17945818 A G intergenic ASAH1,NAT1 dist=3311;dist=82153 NA NA ncRNA_intronic ENSG00000245281 NA NA NA NA NA 8p22 NA NA NA NA rs11203935 0.36 0.36 0.325 0.324681 0.4125 0.2748 0.389 0.2693 0.3149 0.42 0.3 0.43 0.27 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682965 NA NA NA NA NA 0.239 NA 3.5875 1293 11 48997334 48997334 T G intergenic OR4A47,TRIM49B dist=486060;dist=55818 NA NA ncRNA_exonic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs1987879 0.22 0.22 0.205 0.272564 0.1799 0.4028 0.2363 0.1188 0.4673 0.18 0.36 0.2 0.13 0.2327 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391617 NA 0.03 NA NA NA 0.203 NA 3.5874 1293 2 86683901 86683901 G C intronic KDM3A NA NA NA intronic ENSG00000115548 NA NA NA NA NA 2p11.2 NA NA NA NA rs56347930 0.09 0.09 0.089 0.0742812 0.1392 NA 0.0677 0.1233 0.0225 0.14 NA 0.07 0.14 0.1151 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092474 NA NA 0.158599 0.128415 NA 0.145 NA 3.587101 1293 11 63987339 63987339 C T intronic FERMT3 NA NA NA intronic ENSG00000149781 NA NA NA NA NA 11q13.1 NA NA NA NA rs11231726 0.1 0.1 0.092 0.0752796 0.1382 0.0764 0.0807 0.025 0.0736 0.15 0.09 0.09 0.03 0.1181 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.626704 NA NA 0.156737 0.049977 NA 0.138 NA 3.586963 1293 17 39883559 39883559 G A intronic HAP1 NA NA NA exonic ENSG00000173805 NA synonymous SNV ENSG00000173805:ENST00000310778:exon9:c.C1422T:p.S474S NA NA 17q21.2 NA NA NA NA rs33914436 0.44 0.44 0.384 0.461462 0.4115 0.6736 0.4856 0.1513 0.6963 0.42 0.7 0.45 0.15 0.4414 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.951271 NA NA 0.393837 0.190195 NA 0.428 NA 3.5865963 1293 12 12618427 12618427 C T intronic LOH12CR1 NA NA NA intronic ENSG00000165714 NA NA NA NA NA 12p13.2 NA NA NA NA rs3751261 0.43 0.43 0.383 0.452875 0.4135 0.7232 0.4395 0.0885 0.7168 0.41 0.72 0.45 0.1 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570682 NA NA NA NA NA 0.304 NA 3.5865 1293 16 70601254 70601254 G A intronic SF3B3 NA NA NA intronic ENSG00000189091 NA NA NA NA NA 16q22.1 NA NA NA NA rs7197262 0.44 0.44 0.427 0.471446 0.4135 0.5813 0.4135 0.2874 0.7076 0.41 0.59 0.43 0.34 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216719 NA NA NA NA NA 0.514 NA 3.5865 1293 22 44559645 44559645 C T intronic PARVB NA NA NA intronic ENSG00000188677 NA NA NA NA NA 22q13.31 NA NA NA NA rs139079 0.34 0.34 0.326 0.371805 0.4135 0.3234 0.4236 0.2254 0.5399 0.41 0.29 0.41 0.24 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185189 NA NA NA NA NA 0.196 NA 3.5865 1293 11 49000558 49000558 G A intergenic OR4A47,TRIM49B dist=489284;dist=52594 NA NA ncRNA_exonic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs11040198 0.22 0.22 0.172 0.272564 0.1799 0.4028 0.2363 0.1188 0.4673 0.18 0.35 0.2 0.13 0.2338 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728932 NA 1 NA NA NA 0.21 NA 3.5863 1293 12 104461937 104461937 C T intronic HCFC2 NA NA NA intronic ENSG00000111727 NA NA NA NA NA 12q23.3 NA NA NA NA rs6539123 0.15 0.15 0.153 0.166933 0.1372 0.1637 0.1023 0.1815 0.227 0.14 0.16 0.12 0.18 0.1465 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298636 NA NA 0.130143 0.183873 NA 0.159 NA 3.586157 1293 19 17664418 17664418 G A UTR3 FAM129C NM_173544:c.*46G>A NA NA UTR3 ENSG00000167483 ENST00000335393:c.*46G>A,ENST00000601861:c.*46G>A,ENST00000449408:c.*46G>A,ENST00000600519:c.*3337G>A NA NA NA NA 19p13.11 NA NA NA NA rs34631213 0.23 0.23 0.248 0.250998 0.2624 0.128 0.255 0.3729 0.1984 0.25 0.09 0.24 0.37 0.2334 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32424 NA NA 0.251628 0.349523 ID=COSN165756;OCCURENCE=1(NS) 0.254 NA 3.5859054 1293 16 74709206 74709206 G A intronic MLKL NA NA NA intronic ENSG00000168404 NA NA NA NA NA 16q23.1 NA NA NA NA rs11862413 0.1 0.1 0.071 0.108826 0.1441 0.005 0.2896 0.0613 0.1155 0.15 0.0017 0.25 0.04 0.1423 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570175 NA NA 0.127791 0.072338 NA 0.109 NA 3.585809 1293 10 106037894 106037894 T C intronic GSTO2 NA NA NA intronic ENSG00000065621 NA NA NA NA NA 10q25.1 NA Name=p300 NA NA rs157077 0.52 0.52 0.561 0.534145 0.4791 0.4087 0.3401 0.8101 0.4847 0.47 0.42 0.39 0.82 0.4863 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092137 NA NA 0.44907 0.765774 NA 0.471 NA 3.58553 1293 4 3234828 3234828 G T intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs2269478 0.4 0.4 0.334 0.390974 0.4145 0.3284 0.3991 0.4652 0.3252 0.43 0.31 0.42 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260045 NA NA NA NA NA 0.514 NA 3.5855 1293 6 32610281 32610281 C T intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA NA NA NA rs9272777 NA NA NA 0.430711 0.4145 0.5288 0.4769 0.3033 0.4857 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285487 NA NA NA NA NA NA NA 3.5855 1293 6 80775330 80775330 G A intergenic TTK,BCKDHB dist=23086;dist=41014 NA NA ncRNA_exonic ENSG00000218418 NA NA NA NA NA 6q14.1 NA NA NA NA rs3812152 0.33 0.33 0.323 0.310903 0.4145 0.2976 0.2104 0.2458 0.3773 0.42 0.32 0.26 0.24 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6687 NA NA NA NA NA 0.42 NA 3.5855 1293 9 77397519 77397519 T C intronic TRPM6 NA NA NA intronic ENSG00000119121 NA NA NA NA NA 9q21.13 NA NA NA NA rs12339024 0.36 0.36 0.361 0.368411 0.4145 0.2817 0.2882 0.4168 0.4018 0.43 0.29 0.29 0.39 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083949 NA NA NA NA NA 0.391 NA 3.5855 1293 12 3387521 3387521 C G intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA NA NA rs651196 0.35 0.35 0.358 0.337061 0.4145 0.1984 0.4121 0.3646 0.3098 0.4 0.21 0.46 0.37 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02206 NA NA NA NA NA 0.507 NA 3.5855 1293 19 5219829 5219829 T G intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs34082224 0.4 0.4 0.355 0.396166 0.4145 0.5972 0.3199 0.2474 0.4254 0.4 0.61 0.28 0.24 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422432 NA NA NA NA NA 0.457 NA 3.5855 1293 21 34648808 34648808 C T intronic IL10RB NA NA NA intronic ENSG00000243646,ENSG00000249624 NA NA NA NA NA 21q22.11 NA NA NA NA rs2849997 0.31 0.31 0.32 0.284145 0.4145 0.1815 0.245 0.2753 0.2955 0.41 0.22 0.26 0.29 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.805373 NA NA NA NA NA 0.558 NA 3.5855 1293 21 34649123 34649123 G A intronic IL10RB NA NA NA intronic ENSG00000243646,ENSG00000249624 NA NA NA NA NA 21q22.11 NA NA NA NA rs2285020 0.31 0.31 0.338 0.284545 0.4145 0.1815 0.245 0.2753 0.2975 0.41 0.22 0.26 0.29 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.218743 3.218743 NA NA NA NA 0.558 NA 3.5855 1293 5 153788991 153788991 G C ncRNA_intronic FLJ38109 NA NA NA ncRNA_intronic ENSG00000245275 NA NA NA NA NA 5q33.2 NA NA NA NA rs2112605 0.31 0.31 0.299 0.288538 0.3618 0.371 0.245 0.1596 0.3333 0.36 0.39 0.26 0.18 0.344 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219184 NA NA 0.375439 0.180365 NA 0.377 NA 3.5854276 1293 10 27382586 27382586 G C intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs2297150 0.17 0.17 0.158 0.169529 0.1521 0.2817 0.147 0.0862 0.2004 0.16 0.28 0.14 0.07 0.1436 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.715203 2.715203 NA 0.119197 0.102296 NA 0.167 NA 3.585103 1294 15 79031485 79031485 G A intergenic CHRNB4,LOC646938 dist=97898;dist=12894 NA NA intergenic ENSG00000261303,ENSG00000238166 dist=3648;dist=12964 NA NA Score=559;Name=lod=249 NA 15q25.1 NA NA NA NA rs12907536 0.4 0.4 0.377 0.364417 0.7485 0.1349 0.4035 0.1089 0.5235 0.74 0.12 0.47 0.14 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853761 NA NA NA NA NA 0.529 NA 3.5848334 1294 2 219618708 219618708 T C intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA NA NA NA rs55900247 0.23 0.23 0.208 0.199681 0.4155 0.0556 0.3386 0.0234 0.2658 0.42 0.06 0.33 0.05 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421529 NA NA NA NA NA 0.319 NA 3.5845 1294 12 3387449 3387449 A G intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA NA NA rs571206 0.35 0.35 0.357 0.33726 0.4155 0.1984 0.4121 0.3646 0.3098 0.4 0.21 0.46 0.37 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363843 NA NA NA NA NA 0.507 NA 3.5845 1294 16 1400693 1400693 C T intronic TSR3 NA NA NA intronic ENSG00000007520 NA NA NA NA NA 16p13.3 NA NA NA NA rs2294605 0.38 0.38 0.334 0.406749 0.4155 0.2252 0.5836 0.4334 0.4233 0.42 0.18 0.54 0.42 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263251 NA NA NA NA NA 0.355 NA 3.5845 1294 17 39620262 39620262 G A intronic KRT32 NA NA NA intronic ENSG00000108759 NA NA NA NA NA 17q21.2 NA NA NA NA rs11653427 0.33 0.33 0.325 0.290335 0.4155 0.3185 0.3746 0.1626 0.2454 0.42 0.36 0.31 0.17 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643115 NA NA NA NA NA 0.333 NA 3.5845 1294 19 33444479 33444479 C T intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs79480383 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4155 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.528506 NA NA NA NA NA NA NA 3.5845 1294 22 47564781 47564781 C G intronic TBC1D22A NA NA NA intronic ENSG00000054611 NA NA NA NA NA 22q13.31 NA NA NA NA rs5767559 0.46 0.46 0.396 0.40655 0.4155 0.7034 0.5303 0.1505 0.3497 0.42 0.72 0.51 0.16 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06965 NA NA NA NA NA 0.297 NA 3.5845 1294 15 50822178 50822178 T C intronic USP50 NA NA NA intronic ENSG00000170236 NA NA NA NA NA 15q21.2 NA NA NA NA rs62019151 0.15 0.15 0.135 0.165735 0.2177 0.002 0.2637 0.1717 0.2035 0.2 NA 0.26 0.15 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217825 NA NA 0.198095 0.17268 NA 0.181 NA 3.584205 1294 22 50507019 50507019 G A intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs11568179 0.11 0.11 0.089 0.132388 0.1332 0.0952 0.1758 0.0598 0.2372 0.13 0.1 0.16 0.08 0.1399 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949763 NA NA 0.142824 0.077394 NA 0.072 NA 3.584076 1294 8 36664834 36664834 G A intronic KCNU1 NA NA NA intronic ENSG00000215262 NA NA NA NA NA 8p11.23 NA NA NA NA rs1079678 0.09 0.09 0.087 0.061901 0.2117 NA 0.072 0.0159 0.0266 0.22 NA 0.07 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1909 NA NA 0.204274 0.041908 NA 0.072 NA 3.584026 1294 10 124917238 124917238 T C intronic BUB3 NA NA NA intronic ENSG00000154473 NA NA NA NA NA 10q26.13 NA NA NA NA rs2304550 0.23 0.23 0.227 0.240615 0.1183 0.374 0.1369 0.3328 0.1779 0.12 0.4 0.14 0.29 0.1667 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139534 NA NA 0.131047 0.284612 NA 0.188 NA 3.583953 1294 3 4403817 4403817 T A UTR3 SUMF1 NM_001164674:c.*11A>T,NM_001164675:c.*11A>T,NM_182760:c.*11A>T NA NA UTR3 ENSG00000144455 ENST00000272902:c.*11A>T,ENST00000383843:c.*11A>T,ENST00000458465:c.*11A>T,ENST00000405420:c.*11A>T NA NA NA NA 3p26.1 NA NA NA NA rs2633851 0.64 0.64 0.667 0.726837 0.5895 0.7609 0.6844 0.7995 0.7648 0.51 0.7 0.62 0.77 0.6334 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.339079 1.339079 NA 0.526512 0.751702 NA 0.21 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082713.1;CLNDSDB=.;CLNDSDBID=. 3.5839214 1294 12 104459905 104459905 T G intronic HCFC2 NA NA NA intronic ENSG00000111727 NA NA NA NA NA 12q23.3 NA NA NA NA rs35879815 0.15 0.15 0.154 0.157348 0.1382 0.1696 0.1023 0.1641 0.1943 0.14 0.17 0.12 0.16 0.146 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000922 NA NA 0.131977 0.171357 NA 0.138 NA 3.583823 1294 4 70599073 70599073 C T intronic SULT1B1 NA NA NA intronic ENSG00000173597 NA NA NA NA NA 4q13.3 NA NA NA NA rs1847366 0.45 0.45 0.415 0.44389 0.4165 0.5992 0.5159 0.2489 0.5245 0.41 0.63 0.5 0.27 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146291 NA NA NA NA NA 0.377 NA 3.5835 1294 7 133580545 133580545 A G intronic EXOC4 NA NA NA intronic ENSG00000131558 NA NA NA NA NA 7q33 NA NA NA NA rs2042455 0.49 0.49 0.518 0.538339 0.4165 0.4623 0.3184 0.7262 0.6442 0.42 0.5 0.37 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482126 NA NA NA NA NA 0.5 NA 3.5835 1294 9 21816637 21816637 T C intronic MTAP NA NA NA intronic ENSG00000099810,ENSG00000264545 NA NA NA NA NA 9p21.3 NA NA NA NA rs10114559 0.36 0.36 0.318 0.32508 0.4165 0.4395 0.4539 0.1694 0.2321 0.41 0.4 0.43 0.19 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171635 NA NA NA NA ID=COSN168491;OCCURENCE=1(large_intestine) 0.319 NA 3.5835 1294 9 37769811 37769811 T G intronic TRMT10B NA NA NA intronic ENSG00000107371,ENSG00000165275,ENSG00000255872 NA NA NA NA NA 9p13.2 NA NA NA NA rs10973531 0.33 0.33 0.301 0.330471 0.4165 0.1726 0.389 0.2973 0.408 0.43 0.17 0.42 0.3 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469195 NA NA NA NA NA 0.37 NA 3.5835 1294 9 112020668 112020668 T C intronic EPB41L4B NA NA NA intronic ENSG00000095203 NA NA NA NA NA 9q31.3 NA NA NA NA rs745388 0.38 0.38 0.338 0.341853 0.4165 0.2887 0.5058 0.2496 0.3282 0.42 0.31 0.5 0.29 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639314 NA NA NA NA NA 0.312 NA 3.5835 1294 17 6350727 6350727 C T intronic FAM64A NA NA NA intronic ENSG00000129195 NA NA NA NA NA 17p13.2 NA NA NA NA rs12947546 0.3 0.3 0.294 0.284345 0.4165 0.2321 0.3602 0.1611 0.3149 0.43 0.21 0.38 0.16 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892159 NA NA NA NA NA 0.275 NA 3.5835 1294 3 151545323 151545323 T G intronic AADAC NA NA NA ncRNA_intronic ENSG00000242908 NA NA NA NA NA 3q25.1 NA NA NA NA rs62272918 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7499 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803511 NA NA NA NA NA NA NA 3.5834333 1294 7 76255032 76255032 A G ncRNA_intronic LOC100133091 NA NA NA ncRNA_intronic ENSG00000205485 NA NA NA NA NA 7q11.23 NA NA NA NA rs2527936 0.4 0.4 0.423 0.403355 0.3489 0.1984 0.2954 0.7247 0.3129 0.36 0.23 0.31 0.74 0.3619 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430682 NA NA 0.37314 0.678393 NA 0.5 NA 3.5827266 1294 1 201042618 201042618 G A intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs9333652 0.54 0.54 0.517 0.591254 0.4175 0.9633 0.5216 0.3313 0.7873 0.42 0.95 0.46 0.33 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092765 NA NA NA NA NA 0.391 NA 3.5825 1294 3 1427204 1427204 T A intronic CNTN6 NA NA NA intronic ENSG00000134115 NA NA NA NA NA 3p26.3 NA NA NA NA rs3902441 0.5 0.5 0.477 0.500399 0.4175 0.6339 0.5447 0.41 0.5389 0.42 0.62 0.51 0.46 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111977 NA NA NA NA NA 0.5 NA 3.5825 1294 9 106860969 106860969 T C intronic SMC2 NA NA NA intronic ENSG00000136824 NA NA NA NA NA 9q31.1 NA NA NA NA rs10991107 0.31 0.31 0.295 0.325679 0.4175 0.1746 0.3141 0.3548 0.3558 0.4 0.14 0.34 0.36 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.345105 1.345105 NA NA NA NA 0.413 NA 3.5825 1294 13 99056297 99056297 A C intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs41279116 0.31 0.31 0.297 0.296326 0.4175 0.2083 0.2464 0.3283 0.2546 0.39 0.21 0.28 0.31 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150875 NA NA NA NA NA 0.297 NA 3.5825 1294 14 91681623 91681623 C T intronic C14orf159 NA NA NA intronic ENSG00000133943 NA NA NA NA NA 14q32.11 NA NA NA NA rs11622036 0.48 0.48 0.487 0.545327 0.4175 0.3333 0.3833 0.8601 0.5849 0.43 0.31 0.43 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155915 NA NA NA NA NA 0.58 NA 3.5825 1294 15 33990294 33990294 G A intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs1390161 0.36 0.36 0.346 0.36861 0.4175 0.629 0.245 0.0688 0.5429 0.42 0.6 0.26 0.06 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785053 NA NA NA NA NA 0.377 NA 3.5825 1294 19 55142861 55142861 C G intronic LILRB1 NA NA NA intronic ENSG00000104972 NA NA NA NA NA 19q13.42 NA NA NA NA rs1985500 0.54 0.54 0.512 0.535543 0.4175 0.6111 0.5447 0.6694 0.3916 0.42 0.61 0.51 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277357 NA NA NA NA NA 0.609 NA 3.5825 1294 19 56487430 56487430 G A intronic NLRP8 NA NA NA intronic ENSG00000179709 NA NA NA NA NA 19q13.43 NA NA NA NA rs306483 0.29 0.29 0.265 0.299321 0.4175 0.131 0.4135 0.1891 0.4192 0.43 0.14 0.39 0.2 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.245443 NA NA NA NA NA 0.181 NA 3.5825 1294 20 8639443 8639443 T C intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs2076640 0.39 0.39 0.366 0.375599 0.4175 0.3065 0.4625 0.4387 0.2566 0.43 0.26 0.45 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599777 NA NA NA NA NA 0.384 NA 3.5825 1294 17 30321762 30321762 G C intronic SUZ12 NA NA NA intronic ENSG00000178691 NA NA NA NA NA 17q11.2 NA NA NA NA rs473356 0.08 0.08 0.08 0.08127 0.1491 NA 0.0821 0.0356 0.1564 0.15 NA 0.08 0.04 0.1219 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201056 NA NA 0.146977 0.052202 NA 0.145 NA 3.582023 1294 10 124050575 124050575 G A intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA NA NA rs11592545 0.16 0.16 0.173 0.145767 0.1382 0.2629 0.1009 0.0688 0.1687 0.13 0.29 0.12 0.08 0.1405 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151566 NA NA 0.139535 0.073763 NA 0.174 NA 3.581765 1294 2 113308516 113308516 T A exonic POLR1B NA synonymous SNV POLR1B:NM_001137604:exon4:c.T531A:p.T177T,POLR1B:NM_019014:exon5:c.T699A:p.T233T exonic ENSG00000125630 NA synonymous SNV ENSG00000125630:ENST00000537335:exon2:c.T66A:p.T22T,ENSG00000125630:ENST00000417433:exon4:c.T531A:p.T177T,ENSG00000125630:ENST00000263331:exon5:c.T699A:p.T233T,ENSG00000125630:ENST00000409894:exon5:c.T699A:p.T233T,ENSG00000125630:ENST00000541869:exon6:c.T813A:p.T271T NA NA 2q13 NA NA NA NA rs2304555 0.54 0.54 0.541 0.554113 0.6938 0.4038 0.5562 0.5015 0.635 0.69 0.35 0.6 0.5 0.6505 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101831 NA NA 0.740698 0.556741 NA 0.638 NA 3.5816686 1294 18 47480898 47480898 T C intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs1557359 0.35 0.35 0.344 0.395367 0.4185 0.2788 0.4308 0.3162 0.5736 0.42 0.28 0.4 0.3 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239291 NA NA NA NA NA 0.471 NA 3.5815 1294 1 176934389 176934389 T A intronic ASTN1 NA NA NA intronic ENSG00000152092 NA NA NA NA NA 1q25.2 NA NA NA NA rs12565733 0.13 0.13 0.119 0.121605 0.1243 0.1984 0.2248 0.0182 0.1063 0.13 0.18 0.2 0.03 0.1464 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422033 NA NA 0.148372 0.037903 NA 0.087 NA 3.580928 1294 17 9760716 9760716 G T intronic GLP2R NA NA NA intronic ENSG00000065325 NA NA NA NA NA 17p13.1 NA NA NA NA rs2293100 0.25 0.25 0.233 0.277556 0.1252 0.2867 0.268 0.3797 0.2935 0.11 0.28 0.23 0.42 0.1891 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225107 NA NA 0.105 0.344984 NA 0.29 NA 3.5807 1294 12 48144243 48144243 A C intronic RAPGEF3 NA NA NA intronic ENSG00000079337 NA NA NA NA NA 12q13.11 NA Name=c-Myc Name=9 NA rs757279 0.83 0.83 0.803 0.809505 0.7942 0.9494 0.8703 0.7617 0.7025 0.78 0.93 0.9 0.74 0.81 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415565 NA NA 0.815147 0.777929 NA 0.797 NA 3.580653 1294 3 97941104 97941104 A G intergenic OR5H15,OR5H6 dist=52619;dist=42025 NA NA ncRNA_exonic ENSG00000248507 NA NA NA NA NA 3q11.2 NA NA NA NA rs13063850 0.26 0.26 0.256 0.257987 0.4195 0.0387 0.2392 0.2791 0.3027 0.41 0.03 0.28 0.28 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068535 NA NA NA NA NA 0.254 NA 3.5805 1294 20 1702792 1702792 G A intergenic SIRPG,LOC100289473 dist=64367;dist=51219 NA NA ncRNA_exonic ENSG00000234282 NA NA NA NA NA 20p13 NA NA NA NA rs202510 0.31 0.31 0.299 0.308906 0.4195 0.2619 0.4755 0.146 0.3456 0.41 0.27 0.4 0.14 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680486 NA NA NA NA NA 0.377 NA 3.5805 1294 1 163117351 163117351 G T intronic RGS5 NA NA NA intronic ENSG00000143248 NA NA NA NA NA 1q23.3 NA NA NA NA rs3768560 0.39 0.39 0.327 0.375799 0.4195 0.4563 0.5216 0.1664 0.4274 0.42 0.47 0.49 0.17 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520403 NA NA NA NA NA 0.428 NA 3.5805 1294 16 53321734 53321734 T C intronic CHD9 NA NA NA intronic ENSG00000177200 NA NA NA NA NA 16q12.2 NA NA NA NA rs3815548 0.41 0.41 0.419 0.407348 0.4195 0.4444 0.2262 0.3268 0.5941 0.43 0.49 0.28 0.39 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86878 NA NA NA NA NA 0.37 NA 3.5805 1294 20 31374520 31374520 A G intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs2424914 0.73 0.73 0.727 0.767173 0.4195 0.9931 0.6643 0.9539 0.7127 0.43 0.99 0.64 0.93 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790354 NA NA NA NA NA 0.623 NA 3.5805 1294 12 7014962 7014962 A G intronic LRRC23 NA NA NA intronic ENSG00000010626 NA NA NA NA NA 12p13.31 NA NA NA NA rs2071071 0.35 0.35 NA 0.28155 0.2048 0.2927 0.2133 0.4939 0.1104 0.22 0.33 0.27 0.63 0.2148 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819094 NA NA NA NA NA 0.304 NA 3.5804 1294 19 49409004 49409004 T C intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs73063524 0.07 0.07 0.05 0.0628994 0.1421 0.001 0.0663 0.0386 0.0757 0.14 0.0017 0.07 0.03 0.112 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491909 NA NA 0.165581 0.059691 NA 0.13 NA 3.580319 1294 1 32157009 32157009 G T intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297679 0.15 0.15 0.121 0.210663 0.1083 0.1528 0.3588 0.1097 0.407 0.11 0.17 0.27 0.09 0.1895 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.783303 1.783303 NA 0.12196 0.126053 NA 0.159 NA 3.58024 1294 6 70976538 70976538 A G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs883708 0.18 0.18 0.195 0.159345 0.2147 0.12 0.111 0.2201 0.0951 0.22 0.11 0.13 0.24 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153434 NA NA 0.205217 0.217486 NA 0.232 NA 3.580083 1294 9 4561421 4561421 T C intronic SLC1A1 NA NA NA intronic ENSG00000106686,ENSG00000106688 NA NA NA NA NA 9p24.2 NA NA NA NA rs72694015 0.21 0.21 0.17 0.173722 0.1461 0.4236 0.2176 0.0083 0.137 0.15 0.43 0.24 0.01 0.156 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570061 NA NA 0.117907 0.031321 NA 0.159 NA 3.579993 1294 14 20871846 20871846 A G intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs55790286 0.09 0.09 0.085 0.071885 0.1392 0.0655 0.0519 0.0522 0.0501 0.14 0.06 0.05 0.06 0.1223 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.373807 1.373807 NA 0.158642 0.065395 NA 0.109 NA 3.579858 1294 19 33490480 33490480 G A intronic RHPN2 NA NA NA intronic ENSG00000131941 NA NA NA NA NA 19q13.11 NA NA NA NA rs74603434 NA NA 0.14 NA NA NA NA NA NA NA NA NA NA 0.4204 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.308064 1.308064 NA NA NA NA 0.007 NA 3.5796 1294 5 151239290 151239290 G A intronic GLRA1 NA NA NA intronic ENSG00000145888 NA NA NA NA NA 5q33.1 NA NA NA NA rs7729026 0.36 0.36 0.328 0.390575 0.4205 0.3304 0.3718 0.3714 0.4611 0.43 0.3 0.33 0.33 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915544 NA NA NA NA NA 0.37 NA 3.5795 1294 6 49805985 49805985 T C intronic CRISP1 NA NA NA intronic ENSG00000124812 NA NA NA NA NA 6p12.3 NA NA NA NA rs12200099 0.25 0.25 0.236 0.215256 0.4205 0.0407 0.2435 0.211 0.1697 0.42 0.03 0.26 0.23 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373556 NA NA NA NA NA 0.29 NA 3.5795 1294 7 142216436 142216436 G T intergenic LOC730441,MTRNR2L6 dist=244368;dist=157695 NA NA ncRNA_exonic ENSG00000244661 NA NA NA NA NA 7q34 NA NA NA NA rs17231 0.27 0.27 0.25 0.221446 0.4205 0.1994 0.3213 0.0809 0.1585 0.43 0.15 0.35 0.1 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742559 NA NA NA NA NA 0.232 NA 3.5795 1294 9 93627484 93627484 C T intronic SYK NA NA NA intronic ENSG00000165025 NA NA NA NA NA 9q22.2 NA NA NA NA rs4744516 0.39 0.39 0.376 0.364417 0.4205 0.2143 0.5879 0.4539 0.182 0.4 0.21 0.55 0.47 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300987 NA NA NA NA NA 0.319 NA 3.5795 1294 17 706862 706862 G C intronic NXN NA NA NA intronic ENSG00000167693 NA NA NA NA NA 17p13.3 NA NA NA NA rs598974 0.46 0.46 0.426 0.473243 0.4205 0.3661 0.5274 0.6581 0.3497 0.41 0.33 0.51 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49178 NA NA NA NA NA 0.493 NA 3.5795 1294 17 61995030 61995030 A T intronic GH1 NA NA NA intronic ENSG00000204414,ENSG00000259384 NA NA NA NA NA 17q23.3 NA NA NA NA rs2665802 0.33 0.33 0.285 0.28135 0.4205 0.4296 0.3285 0.0598 0.2515 0.42 0.39 0.38 0.08 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.699323 2.699323 NA NA NA NA 0.362 NA 3.5795 1294 20 31389009 31389009 C T intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs2065576 0.71 0.71 0.702 0.742612 0.4205 0.9931 0.6542 0.8661 0.7117 0.43 0.99 0.63 0.85 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492331 NA NA NA NA NA 0.58 NA 3.5795 1294 5 153065746 153065746 A G intronic GRIA1 NA NA NA intronic ENSG00000155511 NA NA NA NA NA 5q33.2 NA NA NA NA rs10035262 0.13 0.13 0.121 0.150958 0.1312 0.005 0.1311 0.2579 0.1912 0.13 0.01 0.14 0.27 0.1475 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545512 NA NA 0.142209 0.243985 NA 0.152 NA 3.579091 1294 19 5215472 5215472 C T intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs10407635 0.15 0.15 0.174 0.167332 0.1382 NA 0.111 0.3949 0.1022 0.13 NA 0.1 0.41 0.1417 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.671168 1.671168 NA 0.141279 0.346346 NA 0.08 NA 3.578821 1294 2 103063520 103063520 G A intronic IL18RAP NA NA NA intronic ENSG00000115607 NA NA NA NA NA 2q12.1 NA NA NA NA rs11465723 0.09 0.09 0.074 0.0766773 0.1541 0.0129 0.0965 0.0598 0.0716 0.15 0.02 0.11 0.07 0.1123 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045511 NA NA 0.155 0.068316 NA 0.072 NA 3.5786 1294 9 327957 327957 T G intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA NA NA rs2296826 0.43 0.43 0.397 0.439896 0.4215 0.7004 0.3919 0.1914 0.5603 0.42 0.68 0.37 0.22 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042889 NA NA NA NA NA 0.283 NA 3.5785 1294 11 61671956 61671956 A G intronic RAB3IL1 NA NA NA intronic ENSG00000167994 NA NA NA NA NA 11q12.2 NA NA NA NA rs174472 0.55 0.55 0.472 0.537939 0.4215 0.8542 0.5922 0.2481 0.6851 0.44 0.92 0.57 0.26 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016288 NA NA NA NA NA 0.37 NA 3.5785 1294 12 125626535 125626535 A G intronic AACS NA NA NA intronic ENSG00000081760 NA NA NA NA NA 12q24.31 NA NA NA NA rs3751181 0.5 0.5 0.457 0.481829 0.4215 0.6696 0.3919 0.5272 0.3528 0.42 0.62 0.44 0.51 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494586 NA NA NA NA NA 0.449 NA 3.5785 1294 17 9830171 9830171 C T intronic GAS7 NA NA NA intronic ENSG00000007237 NA NA NA NA NA 17p13.1 NA NA NA NA rs56199323 0.31 0.31 0.312 0.297923 0.4215 0.1548 0.2781 0.3396 0.2761 0.43 0.13 0.33 0.35 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235401 NA NA NA NA NA 0.391 NA 3.5785 1294 4 84243549 84243549 A G intronic HPSE NA NA NA intronic ENSG00000173083 NA NA NA NA NA 4q21.23 NA NA NA NA rs4328905 0.25 0.25 0.25 0.267173 0.1153 0.4177 0.1873 0.295 0.2873 0.11 0.44 0.17 0.32 0.1931 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155071 NA NA 0.11314 0.278938 NA 0.196 NA 3.57846 1294 14 20813289 20813289 G A intronic PARP2 NA NA NA ncRNA_intronic ENSG00000254846 NA NA NA NA NA 14q11.2 NA NA NA NA rs2297616 0.18 0.18 0.148 0.205471 0.2565 0.1845 0.1988 0.0446 0.3967 0.25 0.18 0.2 0.06 0.2459 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455128 NA NA 0.252768 0.080466 NA 0.196 NA 3.5781653 1294 16 66613841 66613841 G C intronic CMTM2 NA NA NA intronic ENSG00000140932 NA NA NA NA NA 16q21 NA NA NA NA rs2290183 0.2 0.2 0.179 0.208267 0.1332 0.2937 0.2363 0.1664 0.2342 0.13 0.29 0.22 0.16 0.1745 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748337 NA NA 0.114186 0.180373 NA 0.167 NA 3.578114 1294 5 149221992 149221992 C T intronic PPARGC1B NA NA NA intronic ENSG00000155846 NA NA NA NA NA 5q32 NA NA NA NA rs26126 0.09 0.09 0.092 0.120807 0.1412 0.0129 0.0692 0.146 0.2137 0.14 0.02 0.07 0.12 0.1442 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160133 NA NA 0.136639 0.150716 ID=COSN167601;OCCURENCE=1(large_intestine) 0.109 NA 3.577961 1294 11 46393757 46393757 C T intronic DGKZ NA NA NA intronic ENSG00000149091 NA NA NA NA NA 11p11.2 NA NA NA NA rs3740976 0.1 0.1 0.092 0.103435 0.1352 0.0754 0.0879 0.0378 0.1994 0.14 0.09 0.08 0.05 0.1682 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692737 NA NA 0.119036 0.045704 NA 0.087 NA 3.577564 1294 4 168004426 168004426 C T intronic SPOCK3 NA NA NA intronic ENSG00000196104 NA NA NA NA NA 4q32.3 NA NA NA NA rs13117458 0.1 0.1 0.097 0.0966454 0.1441 0.13 0.1124 0.0023 0.1299 0.14 0.13 0.1 0.0041 0.1347 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429705 NA NA 0.143667 0.026042 ID=COSN167368;OCCURENCE=1(large_intestine) 0.058 NA 3.577533 1294 2 71191777 71191777 C T intronic ATP6V1B1 NA NA NA intronic ENSG00000116039,ENSG00000258881 NA NA NA NA NA 2p13.3 NA NA NA NA rs2270263 0.43 0.43 0.407 0.415136 0.4225 0.6548 0.4827 0.1437 0.4796 0.42 0.63 0.47 0.16 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127294 NA NA NA NA NA 0.449 NA 3.5775 1294 12 18237688 18237688 C A intronic RERGL NA NA NA intronic ENSG00000111404 NA NA NA NA NA 12p12.3 NA NA NA NA rs6486881 0.45 0.45 0.452 0.450679 0.4225 0.5734 0.3905 0.441 0.409 0.4 0.6 0.41 0.4 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401317 NA NA NA NA NA 0.478 NA 3.5775 1294 19 3198695 3198695 C G intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs311620 0.42 0.42 0.399 0.411342 0.4225 0.4891 0.4611 0.3018 0.4325 0.42 0.49 0.44 0.3 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.905377 NA NA NA NA NA 0.391 NA 3.5775 1294 13 39450139 39450139 A C intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs1945510 0.18 0.18 0.172 0.201078 0.1173 0.0972 0.3314 0.32 0.1411 0.1 0.11 0.28 0.32 0.1725 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453691 NA NA 0.132791 0.296868 NA 0.174 NA 3.577409 1294 12 105446552 105446552 T C intronic ALDH1L2 NA NA NA intronic ENSG00000136010 NA NA NA NA NA 12q23.3 NA NA Name=2 NA rs56188643 0.36 0.36 0.327 0.360623 0.501 0.3899 0.3559 0.1362 0.4928 0.5 0.37 0.4 0.13 0.4364 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.983845 NA NA 0.485233 0.192919 ID=COSN164358;OCCURENCE=1(breast) 0.435 NA 3.577367 1294 1 21896925 21896925 C T intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs2275375 0.34 0.34 0.34 0.323083 0.2167 0.4702 0.3285 0.3147 0.2883 0.22 0.52 0.31 0.35 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.016493 NA NA 0.206474 0.311416 NA 0.326 NA 3.576826 1294 1 59465642 59465642 G A intergenic LOC100131060,HSD52 dist=100258;dist=131966 NA NA ncRNA_exonic ENSG00000228121 NA NA NA NA NA 1p32.1 NA NA NA NA rs2716146 0.41 0.41 0.433 0.417732 0.4235 0.2133 0.3847 0.6884 0.2802 0.42 0.2 0.39 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.532459 NA NA NA NA NA 0.428 NA 3.5765 1294 5 32419849 32419849 T C intronic ZFR NA NA NA intronic ENSG00000056097 NA NA NA NA NA 5p13.3 NA NA NA NA rs324428 0.44 0.44 0.391 0.436302 0.4235 0.5565 0.4409 0.3411 0.4509 0.43 0.58 0.44 0.32 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808419 NA NA NA NA NA 0.391 NA 3.5765 1294 7 65976634 65976634 A G intergenic LINC00174,LOC493754 dist=111239;dist=41919 NA NA ncRNA_exonic ENSG00000234500 NA NA NA NA NA 7q11.21 NA NA NA NA rs6970860 0.44 0.44 0.351 0.46266 0.4235 0.623 0.4496 0.2995 0.5675 0.42 0.62 0.42 0.27 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268832 NA NA NA NA NA 0.42 NA 3.5765 1294 11 60697905 60697905 T C intronic TMEM132A NA NA NA intronic ENSG00000006118 NA NA NA NA NA 11q12.2 NA NA NA NA rs4939480 0.41 0.41 0.413 0.417732 0.4235 0.3274 0.4452 0.4493 0.4427 0.42 0.34 0.45 0.45 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568693 NA NA NA NA NA 0.486 NA 3.5765 1294 12 4870363 4870363 G A intronic GALNT8 NA NA NA intronic ENSG00000130035 NA NA NA NA NA 12p13.32 NA NA NA NA rs2191157 0.37 0.37 0.376 0.327077 0.4235 0.3611 0.4265 0.2352 0.2464 0.42 0.39 0.42 0.25 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023677 NA NA NA NA NA 0.37 NA 3.5765 1294 17 61564281 61564281 T C intronic ACE NA NA NA intronic ENSG00000159640,ENSG00000264813 NA NA NA NA NA 17q23.3 NA NA NA NA rs4332 0.52 0.52 0.474 0.529752 0.4235 0.6746 0.5692 0.413 0.6196 0.43 0.69 0.56 0.43 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526983 NA NA NA NA NA 0.522 NA 3.5765 1294 22 16953727 16953727 A G intergenic OR11H1,CCT8L2 dist=503923;dist=117921 NA NA ncRNA_intronic ENSG00000227367 NA NA NA NA NA 22q11.1 NA NA NA NA rs11089179 0.26 0.26 0.21 0.276158 0.4235 0.2619 0.3372 0.0991 0.3354 0.38 0.23 0.31 0.07 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.627975 NA NA NA NA NA 0.007 NA 3.5765 1294 22 20295420 20295420 G T intergenic RTN4R,DGCR6L dist=39604;dist=6341 NA NA ncRNA_exonic ENSG00000161132 NA NA NA NA NA 22q11.21 NA NA NA NA rs4425183 0.29 0.29 0.304 0.256789 0.4235 0.2282 0.2205 0.1558 0.2771 0.45 0.26 0.23 0.14 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895737 NA NA NA NA ID=COSN166701;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.217 NA 3.5765 1294 1 37282884 37282884 C T intronic GRIK3 NA NA NA intronic ENSG00000163873 NA NA NA NA NA 1p34.3 NA NA NA NA rs3012032 0.16 0.16 0.159 0.178115 0.1332 0.0635 0.1311 0.3707 0.1155 0.12 0.04 0.15 0.35 0.1459 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02853 NA NA 0.144535 0.308443 ID=COSM146469;OCCURENCE=1(stomach) 0.159 NA 3.576365 1294 15 85488298 85488298 G A intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA NA NA NA rs62021453 0.1 0.1 0.113 0.0876597 0.2227 0.001 0.1023 0.0121 0.1299 0.23 0.0017 0.1 0.02 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858076 NA NA 0.200943 0.041908 NA 0.058 NA 3.576357 1294 7 48285664 48285664 A C intronic ABCA13 NA NA NA intronic ENSG00000179869 NA NA NA NA NA 7p12.3 NA NA NA NA rs1405127 0.22 0.22 0.221 0.240016 0.1252 0.1508 0.2017 0.438 0.2096 0.12 0.18 0.19 0.44 0.18 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170486 NA NA 0.118482 0.40528 NA 0.232 NA 3.576318 1294 7 6204999 6204999 A C exonic CYTH3 NA synonymous SNV CYTH3:NM_004227:exon12:c.T1032G:p.T344T exonic ENSG00000008256 NA synonymous SNV ENSG00000008256:ENST00000396741:exon7:c.T777G:p.T259T,ENSG00000008256:ENST00000350796:exon12:c.T1032G:p.T344T NA NA 7p22.1 NA NA NA NA rs2301910 0.8 0.8 0.797 0.795128 0.7087 0.8502 0.6974 0.938 0.7035 0.7 0.88 0.69 0.92 0.7063 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.191244 NA NA 0.675349 0.886013 NA 0.667 NA 3.5763176 1294 19 10794793 10794793 C T intronic ILF3 NA NA NA UTR3 ENSG00000129351 ENST00000592763:c.*121C>T NA NA NA NA 19p13.2 NA NA NA NA rs892087 0.52 0.52 0.524 0.572484 0.5905 0.37 0.6614 0.6248 0.6288 0.59 0.28 0.64 0.62 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.858573 NA NA NA NA NA 0.5 NA 3.5761667 1294 6 348051 348051 A G intronic DUSP22 NA NA NA intronic ENSG00000112679 NA NA NA NA NA 6p25.3 NA NA NA NA rs1877172 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108448 NA NA 0.423908 0.461758 NA 0.486 NA 3.576092 1294 4 142640637 142640637 A G intronic IL15 NA NA NA intronic ENSG00000164136 NA NA NA Score=439;Name=lod=81 NA 4q31.21 NA NA NA NA rs2857261 0.46 0.46 0.423 0.504393 0.4602 0.5298 0.4092 0.4856 0.6166 0.46 0.49 0.45 0.46 0.492 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.660457 1.660457 NA 0.471738 0.484793 ID=COSM149742;OCCURENCE=1(stomach) 0.42 NA 3.576062 1294 12 43840370 43840370 G A intronic ADAMTS20 NA NA NA intronic ENSG00000173157 NA NA NA NA NA 12q12 NA NA NA NA rs61925148 0.14 0.14 0.116 0.129393 0.1382 0.1359 0.2666 0.0469 0.1278 0.14 0.12 0.24 0.08 0.1594 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884376 NA NA 0.126395 0.065365 ID=COSN164223;OCCURENCE=1(breast) 0.167 NA 3.576005 1294 9 136081598 136081598 C T intronic OBP2B NA NA NA intronic ENSG00000171102 NA NA NA NA NA 9q34.2 NA NA NA NA rs28507496 0.46 0.46 0.477 0.392173 0.4245 0.5744 0.4236 0.2322 0.365 0.47 0.6 0.44 0.29 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542312 NA NA NA NA NA 0.391 NA 3.5755 1294 10 87966028 87966028 T C intronic GRID1 NA NA NA intronic ENSG00000182771 NA NA NA NA NA 10q23.2 NA NA NA NA rs56757884 0.34 0.34 0.323 0.301717 0.4245 0.2728 0.3847 0.2345 0.2372 0.4 0.29 0.4 0.24 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574642 NA NA NA NA NA 0.333 NA 3.5755 1294 12 31254701 31254701 G T intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs7966366 0.54 0.54 0.56 0.616613 0.4245 0.7877 0.5908 0.6846 0.5644 0.39 0.67 0.52 0.64 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896436 NA NA NA NA NA NA NA 3.5755 1294 18 21894351 21894351 A G intronic OSBPL1A NA NA NA intronic ENSG00000141447 NA NA NA NA NA 18q11.2 NA NA NA NA rs12966893 0.09 0.09 0.094 0.0904553 0.1571 0.003 0.0865 0.0741 0.137 0.17 0.0017 0.12 0.07 0.1236 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.607283 1.607283 NA 0.14422 0.079437 NA 0.094 NA 3.57508 1295 6 90360406 90360406 C T intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs56396054 0.09 0.09 0.077 0.103634 0.1551 0.0476 0.085 0.0613 0.1789 0.14 0.04 0.07 0.06 0.1255 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403505 NA NA 0.144419 0.063323 NA 0.138 NA 3.574981 1295 14 23883184 23883184 C T intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs3729833 0.14 0.14 0.142 0.134984 0.1402 0.001 0.0937 0.3328 0.0297 0.13 0.0017 0.12 0.33 0.1324 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822768 NA NA 0.152442 0.312982 NA 0.261 NA 3.574958 1295 1 215368514 215368514 A G intronic KCNK2 NA NA NA intronic ENSG00000082482 NA NA NA NA NA 1q41 NA NA NA NA rs1556907 0.34 0.34 0.339 0.384784 0.4254 0.3452 0.33 0.2534 0.6002 0.4 0.29 0.35 0.29 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628666 NA NA NA NA NA 0.167 NA 3.5746 1295 2 219541056 219541056 T C intronic STK36 NA NA NA intronic ENSG00000163482 NA NA NA NA NA 2q35 NA NA NA NA rs2556388 0.46 0.46 0.494 0.481629 0.4254 0.1429 0.4265 0.9266 0.3262 0.42 0.16 0.41 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.700432 NA NA NA NA NA 0.63 NA 3.5746 1295 3 97957490 97957490 G A intergenic OR5H15,OR5H6 dist=69005;dist=25639 NA NA ncRNA_exonic ENSG00000187900 NA NA NA NA NA 3q11.2 NA NA NA NA rs6439724 0.33 0.33 0.329 0.33147 0.4254 0.0387 0.2666 0.5386 0.3027 0.42 0.03 0.3 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.527359 NA 0.45 NA NA NA 0.333 NA 3.5746 1295 4 3235241 3235241 A G intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs362314 0.43 0.43 0.391 0.416733 0.4254 0.3413 0.4107 0.5348 0.3303 0.44 0.33 0.43 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073036 NA NA NA NA NA 0.5 NA 3.5746 1295 11 95551136 95551136 C T intronic CEP57 NA NA NA intronic ENSG00000166037 NA NA NA NA NA 11q21 NA NA NA NA rs666398 0.34 0.34 0.34 0.271765 0.4254 0.2976 0.2752 0.2012 0.18 0.43 0.35 0.33 0.21 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283679 NA NA NA NA NA 0.275 NA 3.5746 1295 16 85699527 85699527 A G intronic GSE1 NA NA NA intronic ENSG00000131149 NA NA NA NA NA 16q24.1 NA NA NA NA rs7195186 0.5 0.5 0.468 0.507987 0.4254 0.6944 0.4121 0.3896 0.6288 0.44 0.69 0.43 0.41 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216874 NA NA NA NA NA 0.413 NA 3.5746 1295 18 50731802 50731802 G A intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs7227069 0.28 0.28 0.244 0.233227 0.4254 0.0228 0.2795 0.292 0.1401 0.43 0.03 0.33 0.28 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100858 NA NA NA NA NA 0.239 NA 3.5746 1295 20 47751001 47751001 C T intronic STAU1 NA NA NA intronic ENSG00000124214 NA NA NA NA NA 20q13.13 NA NA NA NA rs6066976 0.35 0.35 0.34 0.35024 0.4254 0.3284 0.3674 0.2882 0.3671 0.43 0.29 0.39 0.26 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692806 NA NA NA NA NA 0.312 NA 3.5746 1295 19 52381616 52381616 G A intronic ZNF577 NA NA NA intronic ENSG00000161551 NA NA NA NA NA 19q13.41 NA NA NA NA rs17778649 0.18 0.18 0.16 0.224641 0.1292 0.2976 0.1844 0.1142 0.4254 0.14 0.31 0.18 0.1 0.1828 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395716 NA NA 0.113488 0.11734 NA 0.101 NA 3.574512 1295 6 90482250 90482250 T A intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs11961825 0.08 0.08 0.062 0.090655 0.1581 0.0486 0.0922 0.0053 0.1789 0.15 0.04 0.09 0.01 0.1233 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506717 NA NA 0.144535 0.028824 NA 0.123 NA 3.574065 1295 6 117649988 117649988 T C intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs581235 0.15 0.15 0.138 0.149361 0.1471 0.1528 0.1571 0.1513 0.1401 0.15 0.16 0.14 0.17 0.1411 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423484 NA NA 0.138122 0.152397 NA 0.21 NA 3.573678 1295 1 235896726 235896726 C T intronic LYST NA NA NA intronic ENSG00000143669 NA NA NA NA NA 1q42.3 NA NA NA NA rs6429275 0.41 0.41 0.42 0.41254 0.4264 0.0655 0.3372 0.8812 0.1759 0.42 0.09 0.34 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.537261 1.537261 NA NA NA NA 0.478 NA 3.5736 1295 6 52697601 52697601 T G intronic GSTA5 NA NA NA intronic ENSG00000182793 NA NA NA NA NA 6p12.2 NA NA NA NA rs55815585 0.27 0.27 0.264 0.25599 0.4264 0.1369 0.2795 0.1399 0.3436 0.43 0.14 0.3 0.16 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682011 NA NA NA NA NA 0.29 NA 3.5736 1295 11 95519195 95519195 A T intronic FAM76B NA NA NA intronic ENSG00000077458 NA NA NA NA NA 11q21 NA NA NA NA rs3748252 0.34 0.34 0.363 0.271366 0.4264 0.2976 0.2752 0.1997 0.1789 0.43 0.35 0.33 0.21 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.978684 NA NA NA NA NA 0.319 NA 3.5736 1295 12 117660467 117660467 C G intronic NOS1 NA NA NA intronic ENSG00000089250 NA NA NA NA NA 12q24.22 NA NA NA NA rs816363 0.51 0.51 0.508 0.543331 0.4264 0.4752 0.634 0.6687 0.5 0.44 0.45 0.6 0.61 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.10557 NA NA NA NA NA 0.58 NA 3.5736 1295 21 41450511 41450511 T C intronic DSCAM NA NA NA intronic ENSG00000171587 NA NA NA NA NA 21q22.2 NA NA NA NA rs439535 0.27 0.27 0.258 0.330471 0.4264 0.2133 0.3256 0.0976 0.6708 0.39 0.22 0.31 0.12 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346566 NA NA NA NA NA NA NA 3.5736 1295 6 55113411 55113411 C A intronic HCRTR2 NA NA NA intronic ENSG00000137252 NA NA NA NA NA 6p12.1 Score=824;Name=V$FREAC3_01 Name=CTCF NA NA rs3122169 0.74 0.74 0.746 0.763778 0.831 0.5139 0.5692 0.9622 0.8221 0.82 0.51 0.63 0.95 0.783 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155055 NA NA 0.812442 0.938039 NA 0.826 NA 3.573558 1295 6 29693113 29693113 C T intronic HLA-F NA NA NA intronic ENSG00000204642 NA NA NA NA NA 6p22.1 NA NA NA NA rs2076177 0.19 0.19 0.187 0.230831 0.1183 0.2917 0.1628 0.2632 0.2883 0.12 0.27 0.15 0.24 0.1779 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291311 NA NA 0.130698 0.246936 NA 0.232 NA 3.573102 1295 12 27143579 27143579 C T intronic TM7SF3 NA NA NA intronic ENSG00000064115 NA NA NA NA NA 12p11.23 NA NA NA NA rs12299714 0.29 0.29 0.286 NA NA NA NA NA NA 0.18 0.4 0.21 0.38 0.2316 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530399 NA NA 0.195465 0.324784 NA 0.261 NA 3.572935 1295 9 100617375 100617375 T C UTR3 FOXE1 NM_004473:c.*57T>C NA NA UTR3 ENSG00000178919 ENST00000375123:c.*57T>C NA NA NA NA 9q22.33 NA NA NA NA rs7046645 0.88 0.88 0.886 0.882788 0.7604 0.9911 0.8271 0.969 0.82 0.76 0.99 0.81 0.97 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.25463 1.25463 NA NA NA NA 0.928 NA 3.5729334 1295 1 45880751 45880751 C T intronic TESK2 NA NA NA ncRNA_exonic ENSG00000236872 NA NA NA NA NA 1p34.1 NA NA NA NA rs781230 0.64 0.64 0.621 0.616014 0.7604 0.62 0.6412 0.41 0.7239 0.77 0.6 0.7 0.45 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694085 NA NA NA NA NA 0.594 NA 3.5729333 1295 10 49687850 49687850 G A intronic ARHGAP22 NA NA NA intronic ENSG00000128805 NA NA NA NA NA 10q11.22 NA NA NA NA rs3888298 0.3 0.3 0.294 0.328275 0.1004 0.6151 0.2161 0.348 0.32 0.09 0.6 0.18 0.34 0.2258 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.909866 NA NA 0.100886 0.289462 NA 0.261 NA 3.572914 1295 1 22328279 22328279 C T intronic CELA3A NA NA NA intronic ENSG00000142789 NA NA NA NA NA 1p36.12 NA NA NA NA rs12751986 0.25 0.25 0.184 0.229233 0.2107 0.3978 0.4107 0.0212 0.227 0.23 0.37 0.39 0.03 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450872 NA NA 0.21653 0.067391 NA 0.217 NA 3.57277 1295 17 7977105 7977105 A G intronic ALOX12B NA NA NA intronic ENSG00000179477 NA NA NA NA NA 17p13.1 NA Name=SMC3_(ab9263),Znf143_(16618-1-AP),CTCFL_(SC-98982),CTCF,Rad21,CTCF_(SC-5916),NFKB,CTCF_(C-20),PAX5-C20 Name=124 NA rs12937410 0.84 0.84 0.847 0.850839 0.7913 0.8135 0.7781 0.9788 0.8292 0.79 0.84 0.77 0.97 0.8265 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308618 NA NA 0.809535 0.948252 NA 0.877 NA 3.572665 1295 19 49407715 49407715 C T intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs73063515 0.06 0.06 0.05 0.0533147 0.1421 0.001 0.062 0.0045 0.0757 0.14 0.0017 0.07 0.01 0.1199 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773754 NA NA 0.165349 0.02837 NA 0.116 NA 3.572651 1295 3 67659817 67659817 G A intronic SUCLG2 NA NA NA intronic ENSG00000172340 NA NA NA NA NA 3p14.1 NA NA NA NA rs2290173 0.43 0.43 0.459 0.447684 0.4274 0.4385 0.2608 0.6793 0.2975 0.42 0.37 0.29 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599414 NA NA NA NA NA 0.522 NA 3.5726 1295 6 154567666 154567666 T G intronic IPCEF1,OPRM1 NA NA NA intronic ENSG00000074706,ENSG00000112038 NA NA NA NA NA 6q25.2 NA NA NA NA rs9479798 0.34 0.34 0.32 0.283946 0.4274 0.2698 0.2723 0.261 0.1902 0.45 0.27 0.32 0.28 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846002 NA NA NA NA ID=COSN167916;OCCURENCE=1(large_intestine) 0.319 NA 3.5726 1295 8 145000740 145000740 G A intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs7017644 0.25 0.25 0.207 0.230831 0.4274 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077463 NA NA NA NA NA 0.283 NA 3.5726 1295 8 145000809 145000809 G A intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs7017789 0.25 0.25 0.237 0.230831 0.4274 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.538291 1.538291 NA NA NA NA 0.275 NA 3.5726 1295 9 131761659 131761659 A G intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA NA NA NA rs2302813 0.28 0.28 0.237 0.261781 0.4274 0.1766 0.4035 0.0885 0.3129 0.43 0.16 0.39 0.11 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89012 NA NA NA NA NA 0.333 NA 3.5726 1295 15 85656568 85656568 A G intronic PDE8A NA NA NA intronic ENSG00000073417 NA NA NA NA NA 15q25.3 NA Name=CTCF NA NA rs2304422 0.54 0.54 0.536 0.544529 0.4652 0.4375 0.4885 0.7738 0.4663 0.46 0.46 0.54 0.74 0.4836 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156728 NA NA 0.4786 0.735361 NA 0.514 NA 3.5726 1295 19 2405641 2405641 C T intronic TMPRSS9 NA NA NA intronic ENSG00000178297 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807260 0.64 0.64 0.65 0.658946 0.4274 0.6409 0.7061 0.9183 0.5317 0.45 0.67 0.65 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385803 NA NA NA NA NA 0.659 NA 3.5726 1295 19 11763010 11763010 T C intergenic ZNF627,ZNF833P dist=33036;dist=21803 NA NA ncRNA_exonic ENSG00000267500 NA NA NA NA NA 19p13.2 NA NA NA NA rs10420734 0.42 0.42 0.411 0.455272 0.4274 0.2262 0.4597 0.6263 0.4857 0.43 0.21 0.45 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620739 NA NA NA NA NA 0.58 NA 3.5726 1295 21 41450509 41450509 A C intronic DSCAM NA NA NA intronic ENSG00000171587 NA NA NA NA NA 21q22.2 NA NA NA NA rs394753 0.27 0.27 0.253 0.330871 0.4274 0.2123 0.3256 0.0976 0.6728 0.39 0.22 0.31 0.12 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52709 NA NA NA NA NA NA NA 3.5726 1295 19 56755536 56755536 C T intergenic ZSCAN5A,ZNF542 dist=15877;dist=123932 NA NA intronic ENSG00000131848,ENSG00000267908 NA NA NA NA NA 19q13.43 NA NA NA NA rs116343887 0.03 0.03 0.034 0.0341454 0.0507 0.003 0.0303 0.0295 0.0583 0.05 0.0017 0.03 0.05 0.0435 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918102 NA NA NA NA NA 0.022 NA 3.5724667 1295 16 58528812 58528812 G A intronic NDRG4 NA NA NA intronic ENSG00000103034 NA NA NA NA NA 16q21 NA NA NA NA rs34720527 0.12 0.12 0.107 0.145767 0.2137 0.1071 0.0764 0.0098 0.3487 0.22 0.09 0.1 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344247 NA NA 0.214016 0.053468 NA 0.08 NA 3.572284 1295 8 145141143 145141143 G A downstream GPAA1 NA NA NA downstream ENSG00000197858 NA NA NA NA NA 8q24.3 NA NA NA NA rs55750616 0.12 0.12 0.14 0.135583 0.0944 0.001 0.0692 0.3593 0.0613 0.09 0.0017 0.08 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055907 NA NA NA NA NA 0.116 NA 3.5722666 1295 19 7621475 7621475 T G intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs45505598 0.12 0.12 0.127 0.125599 0.1481 NA 0.111 0.2474 0.0777 0.14 NA 0.1 0.23 0.1298 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.174851 NA NA 0.150233 0.232183 NA 0.261 NA 3.571867 1295 6 32411523 32411523 T C intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs2239804 0.51 0.51 0.51 0.538738 0.4553 0.6349 0.5764 0.5015 0.5491 0.44 0.63 0.54 0.48 0.5097 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.173815 NA NA 0.463257 0.491727 NA 0.543 NA 3.571743 1295 7 100550205 100550205 A C intergenic ACHE,MUC12 dist=56664;dist=62699 NA NA exonic ENSG00000228273 NA synonymous SNV ENSG00000228273:ENST00000379458:exon2:c.A786C:p.S262S NA NA 7q22.1 NA NA NA NA rs77471356 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4986 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148718 NA NA 0.429684 0.421804 NA NA NA 3.571716 1295 1 53237526 53237526 G A intronic ZYG11B NA NA NA intronic ENSG00000162378 NA NA NA NA NA 1p32.3 NA NA NA NA rs1571979 0.71 0.71 0.723 0.714856 0.4284 0.9792 0.6729 0.9077 0.5061 0.43 0.98 0.62 0.9 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.15621 NA NA NA NA NA 0.739 NA 3.5716 1295 3 193069125 193069125 G C intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 NA NA NA NA rs55658952 0.42 0.42 0.412 0.426717 0.4284 0.5675 0.4366 0.2398 0.5256 0.42 0.54 0.4 0.29 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804915 NA NA NA NA NA 0.341 NA 3.5716 1295 6 70963232 70963232 A G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs701689 0.38 0.38 0.388 0.369209 0.4284 0.2927 0.2752 0.5113 0.2618 0.42 0.27 0.32 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120057 NA NA NA NA NA 0.507 NA 3.5716 1295 20 25438952 25438952 G A intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs6138575 0.49 0.49 0.475 0.452077 0.4284 0.9067 0.3213 0.1793 0.4693 0.43 0.92 0.32 0.21 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361952 NA NA NA NA NA 0.413 NA 3.5716 1295 20 25442049 25442049 G A intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs6107046 0.51 0.51 0.505 0.478235 0.4284 0.9067 0.3357 0.2708 0.4693 0.43 0.92 0.34 0.27 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.078248 NA NA NA NA NA 0.42 NA 3.5716 1295 20 25442097 25442097 G A intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs6107047 0.51 0.51 0.5 0.478235 0.4284 0.9067 0.3357 0.2708 0.4693 0.43 0.92 0.34 0.27 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.985164 NA NA NA NA NA 0.428 NA 3.5716 1295 9 139841212 139841212 T C intronic C8G NA NA NA intronic ENSG00000176919 NA NA NA NA NA 9q34.3 NA NA NA NA rs41309980 0.11 0.11 0.107 0.108027 0.1312 0.0278 0.1081 0.1755 0.0757 0.14 0.03 0.12 0.16 0.1559 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.432155 1.432155 NA 0.141494 0.190455 NA 0.072 NA 3.571406 1295 2 97862396 97862396 G A intronic ANKRD36 NA NA NA intronic ENSG00000135976 NA NA NA NA NA 2q11.2 NA NA NA NA rs7573581 NA NA 0.29 NA NA NA NA NA NA NA NA NA NA 0.4287 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.211141 NA NA NA NA NA 0.275 NA 3.5713 1295 16 74425548 74425548 A G intergenic LOC283922,CLEC18B dist=23395;dist=16981 NA NA exonic ENSG00000196436 NA nonsynonymous SNV ENSG00000196436:ENST00000429990:exon7:c.A902G:p.Y301C NA NA 16q23.1 NA NA NA NA rs2868591 NA NA 0.679 NA NA NA NA NA NA NA NA NA NA 0.6317 0.65 1 T 0.0 B 0.0 B . . 1.000 P -1.245 N 1.02 T -0.920 T 0.000 T 0.333 -1.441 0.02 . . . . -1.441302 NA 0.36 0.630688 0.645317 NA 0.167 NA 3.5709454 1295 19 39914308 39914308 C T intronic PLEKHG2 NA NA NA intronic ENSG00000090924 NA NA NA NA NA 19q13.2 NA Name=Pol2 NA NA rs31725 0.53 0.53 0.515 0.579073 0.4841 0.5585 0.4957 0.6997 0.5941 0.47 0.5 0.51 0.65 0.5017 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.402577 NA NA 0.443372 0.669542 NA 0.449 NA 3.570828 1295 2 86275985 86275985 A G intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA NA NA 2p11.2 NA NA Name=33 NA rs2289239 0.27 0.27 0.245 0.246805 0.4881 0.1151 0.2968 0.056 0.3569 0.47 0.13 0.36 0.06 0.4168 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67663 NA NA 0.524284 0.116395 ID=COSN166159;OCCURENCE=1(NS) 0.333 NA 3.570816 1295 19 49407733 49407733 C T intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs116909499 0.07 0.07 0.05 0.0628994 0.1421 0.001 0.0663 0.0386 0.0757 0.14 0.0017 0.07 0.03 0.1227 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197232 NA NA 0.164419 0.059918 NA 0.13 NA 3.570781 1295 1 15809706 15809706 T C intronic CELA2B NA NA NA intronic ENSG00000215704 NA NA NA NA NA 1p36.21 NA NA NA NA rs12129367 0.57 0.57 0.576 0.566094 0.4294 0.6369 0.5259 0.7587 0.4018 0.45 0.62 0.53 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788902 NA NA NA NA NA 0.428 NA 3.5706 1295 1 179364391 179364391 A G intronic AXDND1 NA NA NA intronic ENSG00000162779 NA NA NA NA NA 1q25.2 NA NA NA NA rs61173288 0.38 0.38 0.347 0.363419 0.4294 0.4246 0.4135 0.1884 0.4335 0.41 0.46 0.44 0.19 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160576 NA NA NA NA NA 0.406 NA 3.5706 1295 1 205065733 205065733 G T intronic RBBP5 NA NA NA intronic ENSG00000117222 NA NA NA NA NA 1q32.1 NA NA NA NA rs11577406 0.24 0.24 0.218 0.182308 0.4294 0.0585 0.2594 0.1097 0.0992 0.42 0.06 0.31 0.1 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.421278 1.421278 NA NA NA NA 0.399 NA 3.5706 1295 8 87679098 87679098 G A intronic CNGB3 NA NA NA intronic ENSG00000170289 NA NA NA NA NA 8q21.3 NA NA NA NA rs3735967 0.38 0.38 0.377 0.360423 0.4294 0.373 0.317 0.3154 0.3681 0.41 0.39 0.38 0.32 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137654 NA NA NA NA NA 0.333 NA 3.5706 1295 12 133385188 133385188 A T intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs3741488 0.52 0.52 0.518 0.526158 0.4294 0.63 0.5533 0.553 0.4632 0.44 0.62 0.54 0.53 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676153 NA NA NA NA NA 0.391 NA 3.5706 1295 17 7840679 7840679 G A intronic CNTROB NA NA NA intronic ENSG00000170037 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791987 0.57 0.57 0.55 0.621605 0.4294 0.8016 0.6484 0.5386 0.727 0.44 0.74 0.58 0.56 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425398 NA NA NA NA NA 0.558 NA 3.5706 1295 17 80526139 80526139 A G intronic FOXK2 NA NA NA intronic ENSG00000141568 NA NA NA NA NA 17q25.3 NA NA NA NA rs2291395 0.44 0.44 0.43 0.464058 0.4294 0.4266 0.4582 0.4675 0.5378 0.43 0.41 0.43 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352115 NA NA NA NA NA 0.471 NA 3.5706 1295 19 14762169 14762169 C T intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA NA NA 19p13.12 NA NA NA NA rs11670964 0.47 0.47 0.461 0.489417 0.4294 0.6151 0.5317 0.3313 0.6053 0.46 0.6 0.45 0.36 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796809 NA NA NA NA NA 0.471 NA 3.5706 1295 20 25438928 25438928 G C intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs454723 0.55 0.55 0.538 0.53095 0.4294 0.9097 0.3516 0.4334 0.5041 0.43 0.93 0.35 0.42 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530674 NA NA NA NA NA 0.478 NA 3.5706 1295 6 27440004 27440004 A C intronic ZNF184 NA NA NA intronic ENSG00000096654 NA NA NA NA NA 6p22.1 NA Name=CTCF,Pol2,ZNF263 NA NA rs7750795 0.62 0.62 0.625 0.637181 0.7147 0.5774 0.7003 0.5348 0.7127 0.71 0.55 0.68 0.52 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.549143 2.549143 NA 0.714959 0.558526 NA 0.667 NA 3.570341 1295 3 197574936 197574936 G C intronic LRCH3 NA NA NA intronic ENSG00000186001 NA NA NA NA NA 3q29 NA NA Name=69 NA rs2306439 0.37 0.37 0.348 0.371006 0.5099 0.4554 0.3847 0.0688 0.5399 0.49 0.45 0.4 0.06 0.4436 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.005499 2.005499 NA 0.476163 0.150023 ID=COSN167130;OCCURENCE=1(large_intestine) 0.312 NA 3.570337 1295 8 91031074 91031074 G A intronic DECR1 NA NA NA UTR3 ENSG00000104325 ENST00000518725:c.*15G>A NA NA NA NA 8q21.3 NA NA NA NA rs1805867 0.17 0.17 0.128 0.189497 0.1958 0.2381 0.2709 0.0189 0.3057 0.2 0.23 0.22 0.02 0.2227 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32874 NA NA 0.177982 0.057803 NA 0.116 NA 3.5701847 1295 20 20021301 20021301 T C intronic CRNKL1 NA NA NA intronic ENSG00000101343 NA NA NA NA NA 20p11.23 NA NA NA NA rs3828003 0.4 0.4 0.4 0.397963 0.1024 0.7192 0.3487 0.5431 0.2096 0.1 0.72 0.33 0.52 0.2251 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021407 NA NA 0.102466 0.462551 NA 0.312 NA 3.570034 1295 2 101014363 101014363 C T intronic CHST10 NA NA NA intronic ENSG00000115526 NA NA NA NA NA 2q11.2 NA Name=ZNF263 NA NA rs2241809 0.43 0.43 0.377 0.367013 0.4871 0.7093 0.4496 0.031 0.2863 0.48 0.71 0.43 0.03 0.4613 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988569 NA NA 0.481744 0.111893 NA 0.341 NA 3.569856 1295 2 160729186 160729186 T C intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs10168271 0.47 0.47 0.433 0.503195 0.4304 0.7133 0.5548 0.1566 0.7935 0.43 0.73 0.54 0.17 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865183 NA NA NA NA NA 0.384 NA 3.5696 1295 4 166403574 166403574 A G intronic CPE NA NA NA intronic ENSG00000109472 NA NA NA NA NA 4q32.3 NA NA NA NA rs2289230 0.46 0.46 0.455 0.482029 0.4304 0.4266 0.3473 0.6316 0.4857 0.43 0.4 0.39 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77265 NA NA NA NA NA 0.5 NA 3.5696 1295 4 166929276 166929276 A G intronic TLL1 NA NA NA intronic ENSG00000038295 NA NA NA NA NA 4q32.3 NA NA NA NA rs3775321 0.53 0.53 0.525 0.542532 0.4304 0.5546 0.3977 0.7458 0.4734 0.43 0.56 0.4 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699855 NA NA NA NA NA 0.471 NA 3.5696 1295 11 47776283 47776283 C T intronic FNBP4 NA NA NA intronic ENSG00000109920 NA NA NA NA NA 11p11.2 NA NA NA NA rs7929014 0.32 0.32 0.307 0.344649 0.4304 0.4355 0.317 0.0847 0.5337 0.43 0.35 0.34 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927965 NA NA NA NA NA 0.297 NA 3.5696 1295 20 25438868 25438868 T C intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs416745 0.55 0.55 0.533 0.539337 0.4304 0.9097 0.353 0.4637 0.5041 0.43 0.93 0.35 0.45 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149364 NA NA NA NA NA 0.493 NA 3.5696 1295 20 45357878 45357878 A G intronic SLC2A10 NA NA NA intronic ENSG00000197496 NA NA NA NA NA 20q13.12 NA NA NA NA rs1122067 0.43 0.43 0.386 0.378794 0.4304 0.5952 0.4452 0.1823 0.3211 0.44 0.61 0.46 0.17 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502699 NA NA NA NA NA 0.355 NA 3.5696 1295 1 207758232 207758232 A G intronic CR1 NA NA NA ncRNA_intronic ENSG00000236911 NA NA NA NA NA 1q32.2 NA NA NA NA rs1752688 0.38 0.38 0.357 0.484824 0.2247 0.3294 0.3573 0.8608 0.4949 0.22 0.24 0.36 0.82 0.3256 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692389 NA NA 0.213494 0.740123 NA 0.413 NA 3.5695393 1295 7 97481812 97481812 C T intronic ASNS NA NA NA intronic ENSG00000070669 NA NA NA NA NA 7q21.3 NA NA NA NA rs10486011 0.16 0.16 0.145 0.172923 0.1392 0.1091 0.1369 0.2307 0.2209 0.14 0.11 0.15 0.23 0.1534 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216511 NA NA 0.137907 0.215388 NA 0.203 NA 3.569493 1295 4 189022420 189022420 A G intronic TRIML2 NA NA NA intronic ENSG00000179046 NA NA NA NA NA 4q35.2 NA NA NA NA rs4862860 0.17 0.17 0.153 0.163339 0.1382 0.1935 0.2277 0.1808 0.089 0.13 0.23 0.2 0.16 0.1579 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046154 NA NA 0.134535 0.193827 NA 0.145 NA 3.569365 1295 11 124135481 124135481 C T exonic OR8G5 NA synonymous SNV OR8G5:NM_001005198:exon1:c.C759T:p.Y253Y ncRNA_exonic ENSG00000255298 NA NA NA NA NA 11q24.2 NA NA NA NA rs2466701 0.5 0.5 0.463 0.438498 0.5527 0.5833 0.5591 0.292 0.2843 0.54 0.59 0.54 0.3 0.4975 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347662 NA NA 0.54728 0.335028 NA 0.304 NA 3.5691866 1295 20 61460338 61460338 C T intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 Score=784;Name=V$AHRARNT_02 NA NA NA rs6062700 0.61 0.61 0.6 0.629393 0.4115 0.744 0.5216 0.8215 0.5521 0.42 0.73 0.54 0.8 0.5762 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76337 NA NA 0.443396 0.774896 NA 0.29 NA 3.568904 1295 16 85112002 85112002 T G intronic KIAA0513 NA NA NA intronic ENSG00000135709 NA NA NA NA NA 16q24.1 NA NA Name=5 NA rs2291967 0.56 0.56 0.568 0.602436 0.4374 0.4633 0.6585 0.8797 0.501 0.43 0.44 0.59 0.86 0.5256 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014583 NA NA 0.46814 0.810965 NA 0.58 NA 3.56886 1295 2 28847806 28847806 C G intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs11127181 0.61 0.61 0.617 0.603435 0.4314 0.8978 0.4928 0.6626 0.4755 0.44 0.85 0.48 0.67 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.053303 NA NA NA NA NA 0.594 NA 3.5686 1295 3 49459376 49459376 T C intronic AMT NA NA NA intronic ENSG00000145020 NA NA NA NA NA 3p21.31 NA NA NA NA rs1464566 0.55 0.55 0.509 0.582668 0.4314 0.9117 0.6153 0.3124 0.7413 0.43 0.91 0.59 0.31 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466603 NA NA NA NA NA 0.493 NA 3.5686 1295 8 145058037 145058037 A G intronic PARP10 NA NA NA intronic ENSG00000178685 NA NA NA NA NA 8q24.3 NA NA NA NA rs11989052 0.38 0.38 0.398 0.391374 0.4314 0.1458 0.2795 0.6165 0.3783 0.42 0.15 0.32 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.176286 NA NA NA NA NA 0.449 NA 3.5686 1295 9 116794784 116794784 A G intronic ZNF618 NA NA NA intronic ENSG00000157657 NA NA NA NA NA 9q32 NA NA NA NA rs2116407 0.56 0.56 0.583 0.544129 0.4314 0.6379 0.3847 0.7716 0.3691 0.44 0.67 0.39 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375661 NA NA NA NA NA 0.609 NA 3.5686 1295 10 105956776 105956776 A G intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA NA NA NA rs584309 0.46 0.46 0.491 0.505192 0.4314 0.4038 0.3617 0.6974 0.5276 0.43 0.37 0.38 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000214 NA NA NA NA NA 0.391 NA 3.5686 1295 20 25271326 25271326 C T intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2258066 0.55 0.55 0.564 0.536342 0.4314 0.9107 0.3473 0.4508 0.5082 0.44 0.93 0.35 0.44 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677187 NA NA NA NA NA 0.486 NA 3.5686 1295 22 32804665 32804665 T C intronic C22orf28 NA NA NA intronic ENSG00000100220 NA NA NA NA NA 22q12.3 NA NA NA NA rs2076044 0.39 0.39 0.385 0.406749 0.4314 0.1835 0.3862 0.553 0.4284 0.44 0.19 0.39 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741791 NA NA NA NA NA 0.522 NA 3.5686 1295 8 69730432 69730432 G A intronic C8orf34 NA NA NA intronic ENSG00000165084 NA NA NA NA NA 8q13.2 NA NA NA NA rs16935106 0.19 0.19 0.202 0.21845 0.1282 0.4276 0.1311 0.1225 0.2873 0.12 0.41 0.11 0.11 0.1729 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329711 NA NA 0.13044 0.128974 NA 0.123 NA 3.56846 1295 19 43439970 43439970 T G intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs112579708 0.14 0.14 0.117 0.13758 0.1431 0.0109 0.2277 0.1914 0.1258 0.15 0.01 0.22 0.23 0.1439 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946419 NA NA 0.144951 0.177581 NA 0.196 NA 3.568049 1295 8 145639320 145639320 G C intronic SLC39A4 NA NA NA intronic ENSG00000147804 NA NA NA NA NA 8q24.3 NA NA Name=2 NA rs736676 0.4 0.4 0.361 0.36222 0.4771 0.2966 0.415 0.3336 0.3129 0.5 0.3 0.43 0.33 0.4658 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562595 NA NA 0.489282 0.366818 NA 0.268 NA 3.567818 1295 12 6708898 6708898 C T intronic CHD4 NA NA NA intronic ENSG00000111642 NA NA NA NA NA 12p13.31 NA NA NA NA rs7132970 0.09 0.09 0.086 0.10024 0.1362 0.004 0.072 0.1286 0.1442 0.13 0.0017 0.09 0.14 0.1313 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441878 1.441878 NA 0.164767 0.129823 NA 0.116 NA 3.567733 1295 3 49406080 49406080 T C intronic RHOA NA NA NA intronic ENSG00000067560 NA NA NA NA NA 3p21.31 NA NA NA NA rs2878298 0.55 0.55 0.532 0.583067 0.4324 0.9117 0.6167 0.3147 0.7382 0.43 0.91 0.59 0.31 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616095 NA NA NA NA NA 0.493 NA 3.5676 1295 4 54011424 54011424 C T intronic SCFD2 NA NA NA intronic ENSG00000184178 NA NA NA NA NA 4q12 NA NA NA NA rs4864727 0.41 0.41 0.405 0.435503 0.4324 0.4692 0.4496 0.3177 0.5532 0.43 0.48 0.42 0.27 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582897 NA NA NA NA NA 0.486 NA 3.5676 1295 4 133879820 133879820 T C intergenic NONE,PCDH10 dist=NONE;dist=190650 NA NA ncRNA_intronic ENSG00000251488 NA NA NA NA NA 4q28.3 NA NA NA NA rs1448011 0.55 0.55 0.521 0.535942 0.4324 0.7034 0.5937 0.4781 0.5072 0.44 0.71 0.56 0.53 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572612 NA NA NA NA NA 0.565 NA 3.5676 1295 5 7757812 7757812 A G intronic ADCY2 NA NA NA intronic ENSG00000078295 NA NA NA NA NA 5p15.31 NA NA NA NA rs3935156 0.47 0.47 0.458 0.487021 0.4324 0.3363 0.5922 0.7012 0.3344 0.42 0.31 0.53 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391385 NA NA NA NA NA 0.42 NA 3.5676 1295 6 24460707 24460707 A T intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs2744576 0.38 0.38 0.41 0.390176 0.4324 0.3661 0.3833 0.3502 0.4305 0.42 0.35 0.38 0.37 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830475 NA NA NA NA NA 0.333 NA 3.5676 1295 6 29796685 29796685 T C intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs1632941 0.5 0.5 0.444 0.544129 0.4324 0.6022 0.4654 0.5083 0.7035 0.42 0.63 0.46 0.49 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474589 NA NA NA NA NA 0.572 NA 3.5676 1295 6 29798039 29798039 G A intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs1632932 0.5 0.5 0.494 0.544129 0.4324 0.6022 0.4654 0.5083 0.7035 0.42 0.64 0.46 0.5 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.814927 NA NA NA NA NA 0.572 NA 3.5676 1295 10 105945985 105945985 A C intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA NA NA NA rs479879 0.46 0.46 0.484 0.504992 0.4324 0.4028 0.3602 0.6974 0.5276 0.43 0.37 0.38 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910152 NA NA NA NA NA 0.406 NA 3.5676 1295 12 71526414 71526414 T C intronic TSPAN8 NA NA NA intronic ENSG00000127324 NA NA NA NA NA 12q21.1 NA NA NA NA rs2270588 0.41 0.41 0.384 0.391973 0.4324 0.5724 0.5202 0.1498 0.4008 0.42 0.58 0.49 0.15 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487458 NA NA NA NA NA 0.319 NA 3.5676 1295 16 628302 628302 A G intronic PIGQ NA NA NA intronic ENSG00000007541 NA NA NA NA NA 16p13.3 NA NA NA NA rs3752568 0.52 0.52 0.473 0.532149 0.4324 0.6369 0.4914 0.4803 0.6258 0.46 0.63 0.5 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326772 NA NA NA NA NA 0.486 NA 3.5676 1295 16 630025 630025 C G intronic PIGQ NA NA NA intronic ENSG00000007541 NA NA NA NA NA 16p13.3 NA NA NA NA rs2071981 0.52 0.52 0.475 0.535343 0.4324 0.6359 0.4928 0.4917 0.6268 0.46 0.63 0.5 0.52 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075739 NA NA NA NA NA 0.297 NA 3.5676 1295 16 630089 630089 C T intronic PIGQ NA NA NA intronic ENSG00000007541 NA NA NA NA NA 16p13.3 NA NA NA NA rs7191939 0.52 0.52 0.501 0.524161 0.4324 0.6359 0.487 0.4523 0.6268 0.46 0.63 0.49 0.49 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842482 NA NA NA NA NA 0.246 NA 3.5676 1295 18 21897189 21897189 A G intronic OSBPL1A NA NA NA intronic ENSG00000141447 NA NA NA NA NA 18q11.2 NA NA NA NA rs34306542 0.12 0.12 0.125 0.118411 0.1571 0.0407 0.0908 0.149 0.137 0.17 0.04 0.12 0.15 0.1308 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.97533 NA NA 0.145 0.145483 NA 0.138 NA 3.5671 1295 7 142749417 142749417 C T upstream OR6V1 NA NA NA UTR5 ENSG00000225781 ENST00000418316:c.-21C>T NA NA NA NA 7q34 NA NA NA NA rs17164102 0.19 0.19 0.217 0.186302 0.1461 0.0347 0.1254 0.4312 0.0961 0.13 0.04 0.15 0.47 0.1445 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437829 NA NA 0.142666 0.362895 NA 0.21 NA 3.566734 1295 2 234078582 234078582 G A intronic INPP5D NA NA NA intronic ENSG00000168918 NA NA NA NA NA 2q37.1 NA NA NA NA rs10754947 0.22 0.22 0.197 0.191294 0.4334 0.0169 0.3084 0.0439 0.2382 0.45 0.01 0.32 0.05 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757636 NA NA NA NA NA 0.203 NA 3.5666 1295 4 120079387 120079387 G A intronic MYOZ2 NA NA NA intronic ENSG00000172399 NA NA NA NA NA 4q26 NA NA NA NA rs11729978 0.35 0.35 0.326 0.309105 0.4334 0.3998 0.3256 0.1876 0.2403 0.44 0.41 0.3 0.19 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270966 NA NA NA NA NA 0.348 NA 3.5666 1295 6 109797304 109797304 A G intronic ZBTB24 NA NA NA intronic ENSG00000112365 NA NA NA NA NA 6q21 NA NA NA NA rs2236084 0.55 0.55 0.558 0.562899 0.4334 0.498 0.4928 0.7542 0.5542 0.44 0.56 0.49 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768101 NA NA NA NA NA 0.507 NA 3.5666 1295 8 23106665 23106665 A G intronic CHMP7 NA NA NA intronic ENSG00000147457 NA NA NA NA NA 8p21.3 NA NA NA NA rs2280934 0.36 0.36 0.324 0.358626 0.4334 0.3631 0.4755 0.1195 0.5174 0.43 0.37 0.45 0.15 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367195 NA NA NA NA NA 0.435 NA 3.5666 1295 9 127616323 127616323 G C intronic WDR38 NA NA NA intronic ENSG00000136918 NA NA NA NA NA 9q33.3 NA NA NA NA rs10760380 0.5 0.5 0.497 0.493011 0.4334 0.626 0.4841 0.5257 0.3793 0.4 0.63 0.46 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144799 NA NA NA NA NA 0.42 NA 3.5666 1295 12 21628320 21628320 C T intronic RECQL NA NA NA intronic ENSG00000004700 NA NA NA NA NA 12p12.1 NA NA NA NA rs10841831 0.48 0.48 0.45 0.486821 0.4334 0.5417 0.4798 0.5076 0.4622 0.44 0.53 0.46 0.51 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612815 NA NA NA NA NA 0.58 NA 3.5666 1295 12 21628336 21628336 G A intronic RECQL NA NA NA intronic ENSG00000004700 NA NA NA NA NA 12p12.1 NA NA NA NA rs10841832 0.48 0.48 0.458 0.486821 0.4334 0.5417 0.4798 0.5076 0.4622 0.44 0.53 0.46 0.51 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343241 NA NA NA NA NA 0.587 NA 3.5666 1295 12 31242232 31242232 G T intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs4081649 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4334 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434757 NA NA NA NA NA NA NA 3.5666 1295 14 57092038 57092038 A G intronic TMEM260 NA NA NA intronic ENSG00000070269 NA NA NA NA NA 14q22.3 NA NA NA NA rs2274706 0.41 0.41 0.364 0.396765 0.4334 0.4643 0.5504 0.2307 0.4049 0.43 0.49 0.51 0.22 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.59856 NA NA NA NA NA 0.29 NA 3.5666 1295 15 78457242 78457242 A G intronic IDH3A NA NA NA intronic ENSG00000166411 NA NA NA NA NA 15q25.1 NA NA NA NA rs12904700 0.39 0.39 0.399 0.373602 0.4334 0.1865 0.3991 0.4849 0.3364 0.43 0.19 0.43 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29283 NA NA NA NA NA 0.399 NA 3.5666 1295 20 25264664 25264664 T C intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2257705 0.55 0.55 0.54 0.536941 0.4334 0.9107 0.3473 0.4516 0.5082 0.44 0.93 0.35 0.44 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824724 NA NA NA NA NA 0.486 NA 3.5666 1295 20 61303004 61303004 T C intronic SLCO4A1 NA NA NA intronic ENSG00000101187 NA NA NA NA NA 20q13.33 NA NA NA NA rs3787538 0.37 0.37 0.368 0.359425 0.4334 0.3889 0.3876 0.3185 0.2883 0.42 0.41 0.35 0.27 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508712 NA NA NA NA NA 0.384 NA 3.5666 1295 19 40360845 40360845 C T intronic FCGBP NA NA NA intronic ENSG00000090920 NA NA NA NA NA 19q13.2 NA NA NA NA rs3760929 0.09 0.09 0.077 0.0920527 0.1402 0.0387 0.1931 0.0348 0.1033 0.14 0.03 0.13 0.04 0.1359 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264128 NA NA 0.157326 0.077848 NA 0.188 NA 3.566574 1295 19 56297249 56297249 C G intronic NLRP11 NA NA NA intronic ENSG00000179873 NA NA NA NA NA 19q13.42 NA NA NA NA rs59238812 0.13 0.13 0.133 0.138578 0.1302 0.003 0.1095 0.3101 0.0757 0.11 NA 0.12 0.3 0.1382 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.532587 NA NA 0.165233 0.279846 NA 0.174 NA 3.566367 1295 6 28483590 28483590 A G upstream GPX6 NA NA NA upstream ENSG00000198704 NA NA NA NA NA 6p22.1 NA NA NA NA rs6921021 0.29 0.29 0.271 0.304712 0.1004 0.4821 0.245 0.351 0.3119 0.1 0.49 0.26 0.36 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879116 NA NA NA NA NA 0.268 NA 3.5662666 1295 3 196054488 196054488 A G ncRNA_intronic TM4SF19-TCTEX1D2 NA NA NA intronic ENSG00000145107 NA NA NA NA NA 3q29 NA NA Name=19 NA rs6782336 0.64 0.64 0.622 0.63119 0.5726 0.871 0.6023 0.441 0.7219 0.59 0.88 0.62 0.48 0.6205 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174579 NA NA 0.57457 0.476623 NA 0.543 NA 3.5656633 1295 5 137506434 137506434 G A intronic BRD8 NA NA NA intronic ENSG00000112983 NA NA NA NA NA 5q31.2 NA NA NA NA rs13155519 0.43 0.43 0.442 0.445288 0.4344 0.5923 0.3501 0.3759 0.4663 0.44 0.57 0.31 0.36 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570188 NA NA NA NA NA 0.457 NA 3.5656 1295 7 45142145 45142145 T C intronic TBRG4 NA NA NA intronic ENSG00000136270 NA NA NA NA NA 7p13 NA NA NA NA rs1992292 0.49 0.49 0.479 0.528954 0.4344 0.37 0.4914 0.7035 0.5808 0.44 0.35 0.5 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.09912 2.09912 NA NA NA NA 0.572 NA 3.5656 1295 7 45142834 45142834 G C intronic TBRG4 NA NA NA intronic ENSG00000136270 NA NA NA NA NA 7p13 NA NA NA NA rs2289374 0.49 0.49 0.486 0.53155 0.4344 0.369 0.4899 0.7148 0.5808 0.44 0.35 0.49 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.99629 NA NA NA NA NA 0.58 NA 3.5656 1295 15 20173178 20173178 A C intergenic NONE,CHEK2P2 dist=NONE;dist=314819 NA NA ncRNA_exonic ENSG00000258706 NA NA NA NA NA 15q11.1 NA NA NA NA rs74001139 NA NA 0.28 0.458466 0.4344 0.4653 0.4712 0.4455 0.4847 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245131 NA NA NA NA NA 0.058 NA 3.5656 1295 1 236399442 236399442 G T intronic ERO1LB NA NA NA UTR3 ENSG00000086619 ENST00000327333:c.*253C>A NA NA NA NA 1q42.3 NA NA NA NA rs1254194 0.34 0.34 0.286 0.328874 0.6014 0.1329 0.3631 0.112 0.5194 0.62 0.13 0.36 0.14 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307962 NA NA NA NA NA 0.333 NA 3.5652667 1295 6 41059458 41059458 T G intronic NFYA NA NA NA intronic ENSG00000001167,ENSG00000124596 NA NA NA NA NA 6p21.1 NA NA NA NA rs12189627 0.18 0.18 0.184 0.195088 0.1521 0.005 0.1268 0.5242 0.0389 0.14 0.0035 0.12 0.47 0.1418 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.959888 2.959888 NA 0.141047 0.44167 NA 0.275 NA 3.565053 1296 7 100484917 100484917 C T intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=Pol2 NA NA rs6954151 0.48 0.48 0.449 0.462859 0.4612 0.8056 0.5865 0.0983 0.5164 0.46 0.81 0.54 0.1 0.5007 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292763 NA NA 0.473488 0.181117 NA 0.362 NA 3.564612 1296 2 69009304 69009304 C T intronic ARHGAP25 NA NA NA intronic ENSG00000163219 NA NA NA NA NA 2p13.3 NA NA NA NA rs2271834 0.32 0.32 0.311 0.315695 0.4354 0.1141 0.3991 0.3336 0.317 0.42 0.13 0.38 0.35 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.875045 NA NA NA NA NA 0.384 NA 3.5646 1296 3 38738717 38738717 G A downstream SCN10A NA NA NA UTR3 ENSG00000185313 ENST00000449082:c.*123C>T NA NA NA NA 3p22.2 NA NA NA NA rs6599240 0.36 0.36 0.37 0.372804 0.4354 0.1597 0.4323 0.4418 0.3926 0.45 0.13 0.46 0.45 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126844 NA NA NA NA NA 0.529 NA 3.5646 1296 4 160260209 160260209 G T intronic RAPGEF2 NA NA NA intronic ENSG00000109756 NA NA NA NA NA 4q32.1 NA NA NA NA rs13127789 0.32 0.32 0.304 0.298722 0.4354 0.0694 0.3256 0.3132 0.3558 0.45 0.06 0.37 0.37 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372614 1.372614 NA NA NA NA 0.362 NA 3.5646 1296 5 137897589 137897589 A C intronic HSPA9 NA NA NA intronic ENSG00000113013 NA NA NA NA NA 5q31.2 NA NA NA NA rs256007 0.6 0.6 0.623 0.635583 0.4354 0.7917 0.3703 0.8124 0.6299 0.43 0.81 0.36 0.79 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333681 NA NA NA NA NA 0.609 NA 3.5646 1296 7 64151829 64151829 G C intronic ZNF107 NA NA NA intronic ENSG00000196247 NA NA NA NA NA 7q11.21 NA NA NA NA rs17779754 0.31 0.31 0.311 0.320687 0.4354 0.25 0.379 0.1195 0.5061 0.42 0.25 0.39 0.13 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010399 NA NA NA NA NA 0.232 NA 3.5646 1296 15 41819998 41819998 G A intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs11070334 0.3 0.3 0.283 0.285942 0.4354 0.2768 0.3329 0.0469 0.4315 0.43 0.32 0.33 0.04 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.517843 NA NA NA NA NA 0.297 NA 3.5646 1296 18 84200 84200 C A intergenic NONE,ROCK1P1 dist=NONE;dist=24865 NA NA ncRNA_intronic ENSG00000262081 NA NA NA NA NA 18p11.32 NA NA NA NA rs55853920 0.51 0.51 0.502 0.513978 0.4354 0.504 0.5058 0.5658 0.5409 0.45 0.53 0.51 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454379 NA NA NA NA NA 0.471 NA 3.5646 1296 19 39215333 39215333 C T intronic ACTN4 NA NA NA intronic ENSG00000130402 NA NA NA NA NA 19q13.2 NA NA NA NA rs3786851 0.37 0.37 0.36 0.328674 0.4354 0.4306 0.2824 0.1921 0.3313 0.44 0.47 0.31 0.19 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175575 NA NA NA NA NA 0.355 NA 3.5646 1296 19 55086106 55086106 C G intronic LILRA2 NA NA NA intronic ENSG00000104972,ENSG00000239998 NA NA NA NA NA 19q13.42 NA NA NA NA rs45497601 0.28 0.28 0.275 0.252396 0.4354 0.2024 0.2507 0.1286 0.2843 0.42 0.19 0.31 0.14 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712224 NA NA NA NA NA 0.167 NA 3.5646 1296 10 27436295 27436295 A C intronic YME1L1 NA NA NA UTR3 ENSG00000136758 ENST00000477432:c.*60T>G NA NA NA NA 10p12.1 NA NA NA NA rs3780926 0.43 0.43 0.4 0.397165 0.6024 0.4375 0.4957 0.1309 0.4346 0.59 0.38 0.52 0.15 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353458 NA NA NA NA NA 0.399 NA 3.5642667 1296 4 3225389 3225389 A G intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs82333 0.45 0.45 0.42 0.430911 0.4364 0.3839 0.4135 0.5545 0.319 0.44 0.39 0.43 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284685 NA NA NA NA NA 0.522 NA 3.5636 1296 4 40895132 40895132 T C intronic APBB2 NA NA NA intronic ENSG00000163697 NA NA NA NA NA 4p14 NA NA NA NA rs6849533 0.49 0.49 0.472 0.510184 0.4364 0.6002 0.4308 0.4433 0.6401 0.43 0.62 0.42 0.48 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123147 NA NA NA NA NA 0.522 NA 3.5636 1296 14 94776441 94776441 C A intronic SERPINA6 NA NA NA intronic ENSG00000170099 NA NA NA NA NA 14q32.13 NA NA NA NA rs11160169 0.58 0.58 0.558 0.591254 0.4364 0.9325 0.6772 0.3835 0.6186 0.42 0.91 0.65 0.37 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218758 NA NA NA NA NA 0.529 NA 3.5636 1296 19 2873439 2873439 C T intronic ZNF556 NA NA NA intronic ENSG00000172000 NA NA NA NA NA 19p13.3 NA NA NA NA rs9304900 0.4 0.4 0.423 0.441094 0.4364 0.121 0.33 0.7352 0.4571 0.44 0.1 0.33 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087322 NA NA NA NA NA 0.413 NA 3.5636 1296 1 228494382 228494382 T C intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs1150911 0.55 0.55 NA 0.321486 0.1869 0.497 0.2983 0.4175 0.1656 0.39 0.66 0.51 0.73 0.2496 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543058 NA NA NA NA NA 0.319 NA 3.5635 1296 3 9831680 9831680 G C intronic TADA3 NA NA NA intronic ENSG00000171148 NA NA NA NA NA 3p25.3 NA NA NA NA rs293791 0.14 0.14 0.125 0.141973 0.1183 0.0466 0.1254 0.2572 0.1207 0.13 0.06 0.13 0.28 0.1588 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493037 NA NA 0.159403 0.246588 NA 0.138 NA 3.563497 1296 3 171452645 171452645 A G intronic PLD1 NA NA NA intronic ENSG00000075651 NA NA NA NA NA 3q26.31 NA NA NA NA rs9869368 0.12 0.12 0.123 0.14976 0.1402 0.129 0.085 0.143 0.2362 0.13 0.12 0.1 0.13 0.145 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38308 NA NA 0.151395 0.120744 NA 0.167 NA 3.563405 1296 X 2638499 2638499 G A intronic CD99 NA NA NA intronic ENSG00000002586 NA NA NA NA NA Xp22.33 NA NA NA NA rs5939113 0.21 0.21 0.18919 NA NA NA NA NA NA 0.2 0.07 0.27 0.36 0.2344 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509288 NA NA 0.202281 0.396278 NA 0.217 NA 3.563319 1296 12 32134240 32134240 C T exonic KIAA1551 NA synonymous SNV KIAA1551:NM_018169:exon4:c.C351T:p.N117N exonic ENSG00000174718 NA synonymous SNV ENSG00000174718:ENST00000381054:exon3:c.C351T:p.N117N,ENSG00000174718:ENST00000312561:exon4:c.C351T:p.N117N NA NA 12p11.21 NA NA NA NA rs2388982 0.74 0.74 0.734 0.725839 0.6928 0.7827 0.7608 0.7118 0.6953 0.7 0.8 0.75 0.72 0.7174 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223232 NA NA 0.693488 0.705629 NA 0.667 NA 3.5629786 1296 2 70915134 70915134 C G intronic ADD2 NA NA NA ncRNA_intronic ENSG00000235035 NA NA NA NA NA 2p13.3 NA NA NA NA rs2074820 0.35 0.35 0.328 0.342652 0.2515 0.4345 0.2464 0.4274 0.2955 0.27 0.4 0.3 0.46 0.2755 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592374 NA NA 0.243488 0.388788 NA 0.377 NA 3.5628453 1296 3 37176116 37176116 A G intronic LRRFIP2 NA NA NA intronic ENSG00000093167 NA NA NA NA NA 3p22.2 NA NA NA NA rs9832423 0.3 0.3 0.286 0.24381 0.4374 0.0774 0.3559 0.1959 0.2014 0.45 0.09 0.41 0.23 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289258 NA NA NA NA NA 0.362 NA 3.5626 1296 3 108271012 108271012 T C intronic KIAA1524 NA NA NA intronic ENSG00000163507 NA NA NA NA NA 3q13.13 NA NA NA NA rs2305514 0.42 0.42 0.386 0.369609 0.4374 0.5268 0.3689 0.2292 0.3282 0.44 0.59 0.39 0.22 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497346 NA NA NA NA NA 0.341 NA 3.5626 1296 16 58614733 58614733 C T intronic CNOT1 NA NA NA intronic ENSG00000125107 NA NA NA NA NA 16q21 NA NA NA NA rs72790275 0.26 0.26 0.233 0.230831 0.4374 0.0456 0.2896 0.1974 0.2127 0.42 0.04 0.3 0.22 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675219 NA NA NA NA NA 0.261 NA 3.5626 1296 17 63996851 63996851 A G intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs11654306 0.54 0.54 0.497 0.536342 0.4374 0.875 0.6585 0.233 0.6125 0.44 0.87 0.63 0.24 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.589575 NA NA NA NA NA 0.478 NA 3.5626 1296 17 80622483 80622483 G T intronic RAB40B NA NA NA intronic ENSG00000141542 NA NA NA NA NA 17q25.3 NA NA NA NA rs74002927 0.18 0.18 0.145 0.186502 0.1402 0.2391 0.2118 0.1097 0.2658 0.14 0.24 0.23 0.14 0.1565 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979384 NA NA 0.140814 0.112574 NA 0.109 NA 3.562486 1296 15 74177250 74177250 C T intronic TBC1D21 NA NA NA intronic ENSG00000167139 NA NA NA NA NA 15q24.1 NA NA NA NA rs35697698 0.07 0.07 0.052 0.0591054 0.1581 0.0139 0.0548 0.0098 0.0736 0.16 0.02 0.06 0.01 0.1164 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146114 NA NA 0.163021 0.035259 NA 0.029 NA 3.562479 1296 3 149039324 149039324 G A intronic TM4SF18 NA NA NA ncRNA_intronic ENSG00000244468 NA NA NA NA NA 3q25.1 NA NA NA NA rs2015626 0.2 0.2 0.165 0.185503 0.2783 0.0238 0.3242 0.2065 0.1299 0.28 0.03 0.34 0.17 0.2358 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553479 NA NA 0.257273 0.206724 NA 0.246 NA 3.5619603 1296 19 42373298 42373298 G A intronic RPS19 NA NA NA intronic ENSG00000105372 NA NA NA NA NA 19q13.2 NA Name=Pol2-4H8 NA NA rs1366610 0.56 0.56 0.567 0.558706 0.4622 0.5079 0.5461 0.767 0.4376 0.48 0.55 0.49 0.74 0.4962 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100688 NA NA 0.479646 0.701089 NA 0.58 NA 3.561954 1296 9 21179174 21179174 A G intergenic IFNA21,IFNA4 dist=12515;dist=7444 NA NA ncRNA_exonic ENSG00000232281 NA NA NA NA NA 9p21.3 NA NA NA NA rs2019226 0.38 0.38 0.368 0.40655 0.4384 0.3641 0.3991 0.2791 0.5951 0.44 0.34 0.42 0.29 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117699 NA NA NA NA NA 0.37 NA 3.5616 1296 11 130773076 130773076 G A intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA NA NA NA rs3751039 0.47 0.47 0.457 0.531949 0.4384 0.4812 0.6009 0.4977 0.6779 0.44 0.44 0.56 0.49 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064793 NA NA NA NA NA 0.362 NA 3.5616 1296 12 21627672 21627672 C G intronic RECQL NA NA NA intronic ENSG00000004700 NA NA NA NA NA 12p12.1 NA NA NA NA rs35159698 0.45 0.45 0.417 0.445088 0.4384 0.5238 0.4726 0.3805 0.4387 0.44 0.52 0.46 0.38 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196603 NA NA NA NA NA 0.522 NA 3.5616 1296 16 8868640 8868640 C T intronic ABAT NA NA NA intronic ENSG00000183044 NA NA NA NA NA 16p13.2 NA NA NA NA rs1641021 0.34 0.34 0.306 0.31849 0.4384 0.4177 0.3429 0.0552 0.4315 0.42 0.43 0.36 0.08 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132845 NA NA NA NA NA 0.254 NA 3.5616 1296 9 95887154 95887154 G A intronic NINJ1 NA NA NA intronic ENSG00000131669 NA NA NA NA NA 9q22.31 NA NA NA NA rs13298119 0.12 0.12 0.126 0.102037 0.1551 0.005 0.0634 0.2042 0.0368 0.16 0.0017 0.08 0.23 0.1349 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259977 NA NA 0.148488 0.192692 NA 0.13 NA 3.561512 1296 1 151380727 151380727 A G intronic POGZ NA NA NA intronic ENSG00000143442 NA NA NA NA NA 1q21.3 NA NA NA NA rs2025899 0.07 0.07 0.047 0.0740815 0.1103 0.0387 0.0965 0.0325 0.1135 0.1 0.03 0.1 0.02 0.2057 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.420611 NA NA 0.122558 0.045847 NA 0.051 NA 3.561442 1296 1 236187365 236187365 T C intronic NID1 NA NA NA intronic ENSG00000116962 NA NA NA NA NA 1q42.3 NA NA NA NA rs3738533 0.2 0.2 0.154 0.234824 0.1193 0.2728 0.3343 0.2103 0.2771 0.1 0.28 0.27 0.21 0.1934 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003397 NA NA 0.126047 0.200409 NA 0.181 NA 3.561253 1296 9 135470176 135470176 C G UTR3 DDX31 NM_022779:c.*77G>C NA NA UTR3 ENSG00000125485 ENST00000372159:c.*77G>C,ENST00000372153:c.*77G>C,ENST00000438527:c.*77G>C NA NA NA NA 9q34.13 NA NA NA NA rs306549 0.79 0.79 0.79 0.822284 0.7724 0.7014 0.8401 0.9387 0.8282 0.78 0.68 0.82 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148216 NA NA NA NA NA 0.848 NA 3.5609334 1296 7 130150019 130150019 G A intronic COPG2 NA NA NA intergenic ENSG00000158623,ENSG00000239021 dist=1519;dist=137653 NA NA NA NA 7q32.2 NA NA NA NA rs17333054 0.02 0.02 0.014 0.0161741 0.0368 0.001 0.0187 0.0008 0.0297 0.04 NA 0.02 0.002 0.0305 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208846 NA NA 0.038526 0.00838 NA 0.007 NA 3.5608407 1296 6 11723538 11723538 A G intronic ADTRP NA NA NA intronic ENSG00000111863 NA NA NA NA NA 6p24.1 NA Name=Pol2-4H8,TAF1 Name=5 NA rs210905 0.87 0.87 0.873 0.889976 0.7942 1 0.8847 0.8828 0.8885 0.78 1 0.87 0.86 0.8431 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558814 NA NA 0.802093 0.878348 NA 0.725 NA 3.560607 1296 5 1232775 1232775 T A intronic SLC6A18 NA NA NA intronic ENSG00000164363 NA NA NA NA NA 5p15.33 NA NA NA NA rs6858999 0.38 0.38 0.37 0.362819 0.4394 0.2183 0.4539 0.3782 0.3476 0.42 0.24 0.44 0.43 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791446 NA NA NA NA NA 0.326 NA 3.5606 1296 10 26417531 26417531 T G intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs17739425 0.35 0.35 0.346 0.365415 0.4394 0.2937 0.2911 0.3404 0.4499 0.45 0.29 0.28 0.34 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906889 NA NA NA NA NA 0.42 NA 3.5606 1296 11 35456453 35456453 G C intronic PAMR1 NA NA NA intronic ENSG00000149090 NA NA NA NA NA 11p13 NA NA NA NA rs675227 0.43 0.43 0.457 0.433506 0.4394 0.25 0.487 0.649 0.2873 0.43 0.26 0.43 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317319 NA NA NA NA NA 0.529 NA 3.5606 1296 11 64977644 64977644 C T intronic CAPN1 NA NA NA intronic ENSG00000014216 NA NA NA NA NA 11q13.1 NA NA NA NA rs625750 0.35 0.35 0.367 0.311701 0.4394 0.4286 0.2824 0.1036 0.362 0.44 0.43 0.35 0.11 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295363 NA NA NA NA NA 0.283 NA 3.5606 1296 12 31254642 31254642 T A intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs7952861 0.63 0.63 0.544 0.633986 0.4394 0.8065 0.611 0.708 0.5726 0.43 0.81 0.59 0.74 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225871 NA NA NA NA NA 0.029 NA 3.5606 1296 15 65110391 65110391 C T intronic PIF1 NA NA NA intronic ENSG00000140451 NA NA NA NA NA 15q22.31 NA NA NA NA rs55945924 0.25 0.25 0.226 0.208866 0.4394 0.0565 0.2392 0.1596 0.1738 0.44 0.05 0.27 0.18 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346618 NA NA NA NA NA 0.312 NA 3.5606 1296 20 25459919 25459919 G A intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs84816 0.56 0.56 0.553 0.538738 0.4394 0.9067 0.3516 0.4584 0.5031 0.44 0.93 0.36 0.46 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937293 NA NA NA NA NA 0.471 NA 3.5606 1296 20 41076751 41076751 T A intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs2076082 0.49 0.49 0.509 0.519569 0.4394 0.4593 0.4092 0.6846 0.5194 0.44 0.48 0.45 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387513 NA NA NA NA NA 0.522 NA 3.5606 1296 12 6458274 6458274 G C intronic SCNN1A NA NA NA intronic ENSG00000111319 NA NA NA NA NA 12p13.31 NA NA NA NA rs3764874 0.17 0.17 0.169 0.186901 0.2127 0.122 0.1369 0.149 0.3139 0.22 0.12 0.18 0.15 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052515 NA NA 0.226901 0.135838 NA 0.167 NA 3.560399 1296 9 4576774 4576774 G A intronic SLC1A1 NA NA NA intronic ENSG00000106686,ENSG00000106688 NA NA NA NA NA 9p24.2 NA NA NA NA rs1471786 0.23 0.23 0.183 0.202077 0.1521 0.3988 0.2277 0.1165 0.1483 0.16 0.4 0.24 0.13 0.1674 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.552863 3.552863 NA 0.120233 0.124376 NA 0.181 NA 3.560267 1296 22 41903743 41903743 G T intronic ACO2 NA NA NA intronic ENSG00000100412 NA NA NA NA NA 22q13.2 NA NA NA NA rs2076199 0.46 0.46 0.41 0.50619 0.2326 0.5714 0.5749 0.6808 0.4356 0.22 0.52 0.55 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252964 NA NA 0.207433 0.581621 NA 0.514 NA 3.559967 1296 19 41386171 41386171 G C intronic CYP2A7 NA NA NA intronic ENSG00000198077,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs73032316 0.14 0.14 0.117 0.114417 0.1451 0.1806 0.0821 0.0802 0.0838 0.15 0.19 0.09 0.1 0.1361 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975425 NA NA 0.158837 0.092374 NA 0.109 NA 3.559963 1296 14 71064314 71064314 C T intronic MED6 NA NA NA ncRNA_intronic ENSG00000259115 NA NA NA NA NA 14q24.2 NA NA NA NA rs1007402 0.44 0.44 0.489 0.442891 0.2485 0.5635 0.2594 0.7095 0.2883 0.24 0.56 0.28 0.73 0.2982 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284303 1.284303 NA 0.226913 0.620744 NA 0.478 NA 3.5597203 1296 19 39760336 39760336 T G intronic IFNL2 NA NA NA intronic ENSG00000183709 NA NA NA NA NA 19q13.2 NA NA NA NA rs58736064 0.18 0.18 0.123 0.240415 0.2157 0.0853 0.2305 0.2905 0.365 0.19 0.07 0.24 0.24 0.2246 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855473 NA NA NA NA NA 0.21 NA 3.5597 1296 1 24413427 24413427 T G intronic MYOM3 NA NA NA intronic ENSG00000142661 NA NA NA NA NA 1p36.11 NA NA NA NA rs6686608 0.39 0.39 0.364 0.353834 0.4404 0.4782 0.3386 0.2799 0.2474 0.45 0.46 0.33 0.24 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441534 NA NA NA NA NA 0.275 NA 3.5596 1296 1 38166327 38166327 A T intronic CDCA8 NA NA NA intronic ENSG00000134690 NA NA NA NA NA 1p34.3 NA NA NA NA rs661460 0.54 0.54 0.529 0.538339 0.4404 0.7034 0.5058 0.5325 0.5 0.45 0.7 0.48 0.55 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100361 NA NA NA NA NA 0.572 NA 3.5596 1296 3 2967186 2967186 A G intronic CNTN4 NA NA NA intronic ENSG00000144619 NA NA NA NA NA 3p26.2 NA NA NA NA rs1967176 0.49 0.49 0.419 0.466454 0.4404 0.7143 0.5086 0.2595 0.4877 0.44 0.71 0.52 0.27 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.73653 NA NA NA NA NA 0.507 NA 3.5596 1296 3 46723663 46723663 C T intronic ALS2CL NA NA NA intronic ENSG00000178038 NA NA NA NA NA 3p21.31 NA NA NA NA rs4683311 0.34 0.34 0.284 0.321685 0.4404 0.3393 0.4236 0.0983 0.411 0.44 0.33 0.43 0.12 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152629 NA NA NA NA NA 0.261 NA 3.5596 1296 3 184766186 184766186 A C intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA NA NA NA rs3821749 0.53 0.53 0.512 0.551717 0.4404 0.6667 0.4914 0.5454 0.5992 0.46 0.64 0.52 0.52 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415618 NA NA NA NA NA 0.536 NA 3.5596 1296 7 29591612 29591612 T C intergenic CHN2,PRR15 dist=37668;dist=11815 NA NA ncRNA_exonic ENSG00000270196 NA NA NA NA NA 7p14.3 NA NA NA NA rs10499584 0.36 0.36 0.359 0.338259 0.4404 0.2867 0.2939 0.3722 0.272 0.42 0.3 0.35 0.35 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060637 NA NA NA NA NA 0.428 NA 3.5596 1296 8 97270991 97270991 G A intronic MTERFD1 NA NA NA intronic ENSG00000156469 NA NA NA NA NA 8q22.1 NA NA NA NA rs2319603 0.39 0.39 0.353 0.379393 0.4404 0.1825 0.3501 0.5371 0.3272 0.46 0.2 0.33 0.52 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438058 NA NA NA NA NA 0.457 NA 3.5596 1296 10 127524612 127524612 C T intronic BCCIP NA NA NA intronic ENSG00000107949 NA NA NA NA NA 10q26.2 NA NA NA NA rs4075326 0.42 0.42 0.426 0.44349 0.4404 0.3145 0.3473 0.5666 0.4816 0.44 0.32 0.37 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234469 NA NA NA NA ID=COSN163814;OCCURENCE=1(breast) 0.435 NA 3.5596 1296 19 1507483 1507483 T C intronic ADAMTSL5 NA NA NA intronic ENSG00000185761 NA NA NA NA NA 19p13.3 NA NA NA NA rs791460 0.39 0.39 0.399 0.372804 0.4404 0.3879 0.2983 0.3313 0.3967 0.44 0.41 0.31 0.35 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268966 1.268966 NA NA NA NA 0.42 NA 3.5596 1296 20 44663475 44663475 T C intronic SLC12A5 NA NA NA intronic ENSG00000124140 NA NA NA NA NA 20q13.12 NA NA NA NA rs11699481 0.21 0.21 0.179 0.179313 0.4404 NA 0.2882 0.0484 0.1953 0.42 NA 0.32 0.04 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549069 NA NA NA NA NA 0.261 NA 3.5596 1296 20 50225235 50225235 G A intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6021312 0.42 0.42 0.415 0.433506 0.4404 0.2212 0.5749 0.5953 0.3262 0.43 0.26 0.53 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072903 NA NA NA NA NA 0.341 NA 3.5596 1296 16 20627733 20627733 A G intergenic ACSM2B,ACSM1 dist=40038;dist=6826 NA NA intronic ENSG00000005187 NA NA NA NA NA 16p12.3 NA NA NA NA rs7191240 0.22 0.22 0.239 0.244808 0.1074 0.1389 0.1369 0.5106 0.2127 0.11 0.16 0.15 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304261 NA NA NA NA NA 0.304 NA 3.5592667 1296 19 56719708 56719708 G A intergenic ZSCAN5B,ZSCAN5A dist=15287;dist=12971 NA NA intronic ENSG00000204532 NA NA NA NA NA 19q13.43 NA NA NA NA rs62120859 0.05 0.05 0.032 0.0323482 0.1074 0.001 0.049 0.0053 0.0123 0.11 NA 0.05 0.002 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773267 NA NA NA NA NA 0.058 NA 3.5592667 1296 2 210889759 210889759 A G intronic KANSL1L NA NA NA intronic ENSG00000144445 NA NA NA NA NA 2q34 NA NA NA NA rs6435550 0.42 0.42 0.433 0.418331 0.4414 0.5357 0.3473 0.3638 0.3978 0.43 0.51 0.39 0.34 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289833 NA NA NA NA NA 0.42 NA 3.5586 1296 1 55266845 55266845 C T UTR5 TTC22 NM_001114108:c.-9G>A,NM_017904:c.-9G>A NA NA UTR5 ENSG00000006555 ENST00000371276:c.-9G>A,ENST00000371274:c.-9G>A NA NA NA NA 1p32.3 NA Name=YY1_(C-20),Pol2 NA NA rs1147984 0.48 0.48 0.491 0.4998 0.5964 0.2788 0.4611 0.4985 0.6575 0.6 0.29 0.49 0.52 0.5682 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.309613 1.309613 NA 0.610391 0.517377 NA 0.572 NA 3.5583424 1296 9 137020431 137020431 A G intronic WDR5 NA NA NA intronic ENSG00000196363 NA NA NA NA NA 9q34.2 NA NA NA NA rs28620999 0.16 0.16 0.143 0.152955 0.16 0.0149 0.1182 0.3419 0.0573 0.16 0.02 0.15 0.33 0.1371 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701882 NA NA 0.144651 0.320018 NA 0.21 NA 3.558249 1296 12 117494587 117494587 G C intronic TESC NA NA NA intronic ENSG00000088992 NA NA NA NA NA 12q24.22 NA NA NA NA rs2173653 0.18 0.18 0.186 0.195288 0.1571 0.0367 0.0994 0.4402 0.135 0.16 0.03 0.11 0.42 0.1493 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240818 NA NA 0.135698 0.394008 NA 0.167 NA 3.557902 1296 7 2962241 2962241 G A intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs3735130 0.22 0.22 0.235 0.244209 0.1382 0.4028 0.1052 0.2579 0.2699 0.13 0.38 0.1 0.25 0.1677 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13237 NA NA 0.136279 0.224467 NA 0.159 NA 3.557821 1296 3 16364846 16364846 C T intronic RFTN1 NA NA NA intronic ENSG00000131378,ENSG00000154814 NA NA NA NA NA 3p25.1 NA NA NA NA rs59223456 0.19 0.19 0.224 0.198283 0.1551 0.0258 0.1124 0.5212 0.045 0.15 0.02 0.12 0.5 0.1439 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.777394 NA NA 0.143256 0.446412 NA 0.268 NA 3.557744 1296 1 226050609 226050609 C A intronic TMEM63A NA NA NA intronic ENSG00000196187 NA NA NA NA NA 1q42.12 NA NA NA NA rs10158985 0.12 0.12 0.102 0.105032 0.2207 0.005 0.1297 0.0582 0.135 0.22 0.0017 0.15 0.06 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314945 NA NA 0.221559 0.078757 NA 0.138 NA 3.557741 1296 3 100270804 100270804 T C intronic TMEM45A NA NA NA intronic ENSG00000181458 NA NA NA NA NA 3q12.2 NA NA NA NA rs4928065 0.35 0.35 0.326 0.309704 0.4423 0.3185 0.379 0.2057 0.2556 0.45 0.33 0.41 0.18 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545005 NA NA NA NA NA 0.406 NA 3.5577 1296 4 166243082 166243082 A G intronic KLHL2 NA NA NA intronic ENSG00000109466 NA NA NA NA NA 4q32.3 NA NA NA NA rs60759634 0.37 0.37 0.377 0.341454 0.4423 0.2847 0.2709 0.4735 0.1677 0.43 0.26 0.32 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264537 NA NA NA NA NA 0.326 NA 3.5577 1296 5 1219859 1219859 C T intronic SLC6A19 NA NA NA intronic ENSG00000174358 NA NA NA NA NA 5p15.33 NA NA NA NA rs11746371 0.35 0.35 0.33 0.325879 0.4423 0.2173 0.4481 0.2466 0.3384 0.43 0.24 0.44 0.28 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007071 NA NA NA NA NA 0.319 NA 3.5577 1296 5 1330253 1330253 T C intronic CLPTM1L NA NA NA intronic ENSG00000049656 NA NA NA NA NA 5p15.33 NA NA NA NA rs452932 0.39 0.39 0.391 0.367013 0.4423 0.1905 0.3112 0.6036 0.1912 0.46 0.16 0.35 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142084 NA NA NA NA NA 0.413 NA 3.5577 1296 5 137903084 137903084 A G intronic HSPA9 NA NA NA intronic ENSG00000113013 NA NA NA NA NA 5q31.2 NA NA NA NA rs256014 0.61 0.61 0.641 0.648962 0.4423 0.7937 0.3761 0.826 0.6667 0.44 0.81 0.37 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098249 NA NA NA NA NA 0.63 NA 3.5577 1296 10 26436287 26436287 G T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs2368158 0.39 0.39 0.387 0.395168 0.4423 0.3512 0.3833 0.3533 0.4571 0.45 0.37 0.35 0.35 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032291 NA NA NA NA NA 0.435 NA 3.5577 1296 10 127484543 127484543 G C intronic UROS NA NA NA intronic ENSG00000188690 NA NA NA NA NA 10q26.13 NA NA NA NA rs2281956 0.38 0.38 0.394 0.396965 0.4423 0.3006 0.3372 0.438 0.4366 0.44 0.31 0.36 0.41 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486777 1.486777 NA NA NA NA 0.384 NA 3.5577 1296 17 74084737 74084737 T C intronic EXOC7 NA NA NA intronic ENSG00000182473 NA NA NA NA NA 17q25.1 NA NA NA NA rs2246632 0.47 0.47 0.478 0.533946 0.4423 0.5169 0.3703 0.5946 0.68 0.44 0.47 0.36 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898987 NA NA NA NA NA 0.413 NA 3.5577 1296 17 74090385 74090385 G A intronic EXOC7 NA NA NA intronic ENSG00000182473 NA NA NA NA NA 17q25.1 NA NA NA NA rs2243538 0.47 0.47 0.487 0.534145 0.4423 0.5169 0.3718 0.5946 0.68 0.44 0.47 0.36 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082158 NA NA NA NA NA 0.413 NA 3.5577 1296 20 33529766 33529766 T G intronic GSS NA NA NA intronic ENSG00000100983 NA NA NA NA NA 20q11.22 NA NA NA NA rs2273684 0.46 0.46 0.466 0.466853 0.4423 0.2252 0.3429 0.7814 0.4039 0.46 0.24 0.4 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048454 NA NA NA NA NA 0.616 NA 3.5577 1296 4 17841848 17841848 A C intronic NCAPG NA NA NA intronic ENSG00000109805 NA NA NA NA NA 4p15.31 NA NA NA NA rs2286535 0.18 0.18 0.171 0.225639 0.1133 0.1627 0.1484 0.3487 0.2945 0.12 0.12 0.15 0.37 0.1714 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504334 NA NA 0.157619 0.322177 NA 0.254 NA 3.557681 1296 7 2697881 2697881 G T intronic TTYH3 NA NA NA intronic ENSG00000136295 NA NA NA NA NA 7p22.3 NA NA NA NA rs2302342 0.14 0.14 0.126 0.123802 0.1272 0.0873 0.1571 0.1596 0.0859 0.12 0.1 0.19 0.17 0.1916 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051826 NA NA 0.123572 0.121511 NA 0.145 NA 3.557628 1296 19 7812181 7812181 G C intronic CD209 NA NA NA intronic ENSG00000090659 NA NA NA NA NA 19p13.2 NA NA NA NA rs7252229 0.18 0.18 0.202 0.198882 0.16 0.0655 0.098 0.4463 0.1135 0.16 0.05 0.1 0.41 0.1465 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691618 NA NA 0.136163 0.39537 NA 0.261 NA 3.557337 1296 11 118416253 118416253 C T intronic IFT46,TMEM25 NA NA NA intronic ENSG00000118096,ENSG00000149582 NA NA NA NA NA 11q23.3 NA NA NA NA rs2277295 0.23 0.23 0.206 0.257588 0.1322 0.5427 0.0778 0.1672 0.3425 0.13 0.51 0.09 0.15 0.1801 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437996 NA NA 0.130733 0.159318 NA 0.181 NA 3.556967 1296 3 41977464 41977464 A C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs73071203 0.09 0.09 0.084 0.0838658 0.169 0.002 0.0951 0.0613 0.1033 0.18 0.0035 0.1 0.06 0.1244 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827511 NA NA 0.149786 0.071886 NA 0.123 NA 3.556814 1296 3 100287901 100287901 T G intronic TMEM45A NA NA NA intronic ENSG00000181458 NA NA NA NA NA 3q12.2 NA NA NA NA rs6763638 0.5 0.5 0.518 0.476038 0.4433 0.3323 0.4251 0.8026 0.2526 0.46 0.34 0.44 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.7789 NA NA NA NA NA 0.652 NA 3.5567 1296 11 119004009 119004009 G T intronic HINFP NA NA NA intronic ENSG00000172273 NA NA NA NA NA 11q23.3 NA NA NA NA rs672189 0.44 0.44 0.408 0.401957 0.4433 0.7183 0.2824 0.1694 0.4325 0.44 0.74 0.33 0.18 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304294 NA NA NA NA NA 0.37 NA 3.5567 1296 11 119004026 119004026 C T intronic HINFP NA NA NA intronic ENSG00000172273 NA NA NA NA NA 11q23.3 NA NA NA NA rs537153 0.44 0.44 0.44 0.401757 0.4433 0.7183 0.2824 0.1687 0.4325 0.44 0.74 0.33 0.18 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704204 NA NA NA NA NA 0.37 NA 3.5567 1296 17 28505024 28505024 G A intronic NSRP1 NA NA NA intronic ENSG00000126653 NA NA NA NA NA 17q11.2 NA NA NA NA rs7221154 0.59 0.59 0.587 0.582268 0.4433 0.8224 0.5634 0.5371 0.5521 0.45 0.83 0.55 0.57 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005166 NA NA NA NA NA 0.725 NA 3.5567 1296 22 40816749 40816749 G A intronic MKL1 NA NA NA intronic ENSG00000196588 NA NA NA NA NA 22q13.1 NA NA NA NA rs2072856 0.35 0.35 0.382 0.407348 0.4433 0.1022 0.2853 0.562 0.5624 0.45 0.09 0.3 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313151 NA NA NA NA NA 0.486 NA 3.5567 1296 14 24646469 24646469 T C intronic REC8 NA NA NA intronic ENSG00000100918 NA NA NA NA NA 14q12 NA NA NA NA rs17199551 0.15 0.15 0.115 0.145966 0.1312 0.1032 0.3285 0.1021 0.135 0.14 0.14 0.27 0.1 0.1645 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9029 NA NA 0.147606 0.0966 ID=COSN164644;OCCURENCE=1(breast) 0.13 NA 3.556694 1296 19 10675564 10675564 C T intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745247 0.14 0.14 0.125 0.126597 0.166 0.1438 0.1066 0.0734 0.1544 0.16 0.15 0.14 0.09 0.1357 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650143 NA NA 0.141628 0.083069 NA 0.181 NA 3.556672 1296 1 241920562 241920562 C T intronic WDR64 NA NA NA intronic ENSG00000162843 NA NA NA NA NA 1q43 NA NA NA NA rs6663895 0.12 0.12 0.122 0.102436 0.1541 0.003 0.1196 0.1921 0.0184 0.14 0.0035 0.14 0.19 0.1259 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112323 NA NA 0.163605 0.187699 NA 0.21 NA 3.556395 1296 11 60285528 60285528 T G intronic MS4A13 NA NA NA intronic ENSG00000204979 NA NA NA NA NA 11q12.2 NA NA NA NA rs10897078 0.24 0.24 0.225 0.275559 0.1213 0.2798 0.3141 0.3404 0.3149 0.12 0.28 0.3 0.32 0.1904 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.461884 NA NA 0.132387 0.318202 ID=COSN163966;OCCURENCE=1(breast) 0.217 NA 3.555913 1296 6 152782628 152782628 C T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs506181 0.58 0.58 0.6 0.602436 0.4443 0.747 0.3775 0.7927 0.5184 0.43 0.74 0.4 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919009 NA NA NA NA NA 0.587 NA 3.5557 1296 7 150327024 150327024 C T intronic GIMAP6 NA NA NA intronic ENSG00000133561 NA NA NA NA NA 7q36.1 NA NA NA NA rs3735082 0.44 0.44 0.434 0.402756 0.4443 0.503 0.3732 0.323 0.3855 0.45 0.54 0.41 0.33 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336918 NA NA NA NA NA 0.435 NA 3.5557 1296 10 5174693 5174693 A G intergenic AKR1C3,AKR1CL1 dist=24815;dist=21962 NA NA ncRNA_intronic ENSG00000225418 NA NA NA NA NA 10p15.1 NA NA NA NA rs11252988 0.29 0.29 0.306 0.271565 0.4443 0.001 0.2622 0.4244 0.1728 0.43 0.0017 0.3 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274415 NA NA NA NA NA 0.341 NA 3.5557 1296 10 5174707 5174707 C T intergenic AKR1C3,AKR1CL1 dist=24829;dist=21948 NA NA ncRNA_intronic ENSG00000225418 NA NA NA NA NA 10p15.1 NA NA NA NA rs11252989 0.29 0.29 0.298 0.271565 0.4443 0.001 0.2622 0.4244 0.1728 0.43 0.0017 0.3 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.012061 NA NA NA NA NA 0.341 NA 3.5557 1296 10 5177308 5177308 C T intergenic AKR1C3,AKR1CL1 dist=27430;dist=19347 NA NA ncRNA_intronic ENSG00000225418 NA NA NA NA NA 10p15.1 NA NA NA NA rs7100514 0.3 0.3 0.307 0.271965 0.4443 0.001 0.2637 0.4251 0.1728 0.43 0.0017 0.3 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018138 NA NA NA NA NA 0.341 NA 3.5557 1296 11 102567626 102567626 C G intronic MMP27 NA NA NA intronic ENSG00000137675 NA NA NA NA NA 11q22.2 NA NA NA NA rs1940480 0.43 0.43 0.413 0.437899 0.4443 0.629 0.5043 0.174 0.544 0.45 0.59 0.47 0.17 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323768 NA NA NA NA NA 0.449 NA 3.5557 1296 3 108366978 108366978 A G intronic DZIP3 NA NA NA UTR3 ENSG00000198919 ENST00000495008:c.*1055A>G NA NA NA NA 3q13.13 NA NA NA NA rs2399235 0.22 0.22 0.226 0.245807 0.1879 0.4554 0.2637 0.0552 0.3344 0.2 0.39 0.24 0.04 0.235 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24023 1.24023 NA 0.188431 0.082726 ID=COSN166964;OCCURENCE=1(large_intestine) 0.138 NA 3.5553357 1297 19 8642160 8642160 T C intronic MYO1F NA NA NA intronic ENSG00000142347 NA NA NA NA NA 19p13.2 NA Name=Pol2 NA NA rs4542783 0.59 0.59 0.578 0.58766 0.4712 0.7401 0.5807 0.6104 0.5245 0.46 0.76 0.57 0.59 0.5272 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22612 NA NA 0.446654 0.562829 NA 0.572 NA 3.554946 1297 17 33463568 33463568 C T intronic NLE1 NA NA NA intronic ENSG00000073536 NA NA NA NA NA 17q12 NA NA Name=2 NA rs3736143 0.56 0.56 0.524 0.566693 0.4533 0.7857 0.598 0.4418 0.6043 0.47 0.79 0.58 0.42 0.5222 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39442 NA NA 0.469684 0.453278 NA 0.442 NA 3.554816 1297 1 150958977 150958977 T C intronic ANXA9 NA NA NA intronic ENSG00000143412 NA NA NA NA NA 1q21.3 NA NA NA NA rs2305814 0.52 0.52 0.534 0.550919 0.4453 0.5883 0.6095 0.5182 0.6237 0.44 0.61 0.57 0.51 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.165688 NA NA NA NA NA 0.413 NA 3.5547 1297 1 227170298 227170298 A G intronic ADCK3 NA NA NA intronic ENSG00000163050 NA NA NA NA NA 1q42.13 NA NA NA NA rs2297412 0.35 0.35 0.391 0.35603 0.4453 0.2073 0.353 0.4992 0.226 0.41 0.18 0.33 0.45 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615139 NA NA NA NA NA 0.5 NA 3.5547 1297 5 118965609 118965609 C A intronic FAM170A NA NA NA intronic ENSG00000164334 NA NA NA NA NA 5q23.1 NA NA NA NA rs2431372 0.43 0.43 0.386 0.4375 0.4453 0.497 0.3818 0.329 0.5542 0.42 0.53 0.4 0.33 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453704 NA NA NA NA NA 0.457 NA 3.5547 1297 10 5174913 5174913 C T intergenic AKR1C3,AKR1CL1 dist=25035;dist=21742 NA NA ncRNA_exonic ENSG00000225418 NA NA NA NA NA 10p15.1 NA NA NA NA rs11252991 0.29 0.29 0.282 0.271765 0.4453 0.001 0.2622 0.4244 0.1728 0.43 0.0017 0.3 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567299 NA NA NA NA NA 0.341 NA 3.5547 1297 10 50952851 50952851 C T intronic OGDHL NA NA NA intronic ENSG00000197444 NA NA NA NA NA 10q11.23 NA NA NA NA rs1268723 0.5 0.5 0.441 0.436701 0.4453 0.9107 0.4669 0.0666 0.4182 0.45 0.9 0.51 0.09 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23648 NA NA NA NA NA 0.297 NA 3.5547 1297 11 18017517 18017517 T C intronic SERGEF NA NA NA intronic ENSG00000129158 NA NA NA NA NA 11p15.1 NA NA NA NA rs211131 0.48 0.48 0.487 0.541134 0.4453 0.4048 0.4452 0.7458 0.5716 0.43 0.38 0.45 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.424211 1.424211 NA NA NA NA 0.514 NA 3.5547 1297 12 110002777 110002777 C T intronic MMAB NA NA NA intronic ENSG00000139428 NA NA NA NA NA 12q24.11 NA NA NA NA rs10850379 0.35 0.35 0.35 0.341054 0.4453 0.2004 0.3357 0.3858 0.3221 0.45 0.19 0.38 0.37 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076618 NA NA NA NA NA 0.413 NA 3.5547 1297 17 25601154 25601154 A G intergenic NONE,MIR4522 dist=NONE;dist=19782 NA NA ncRNA_exonic ENSG00000239223 NA NA NA NA NA 17q11.1 NA NA NA NA rs58571455 NA NA NA 0.484625 0.4453 0.2688 0.3991 0.6286 0.6135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988433 NA NA NA NA NA NA NA 3.5547 1297 18 57136902 57136902 C A intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs663452 0.39 0.39 0.41 0.413738 0.4453 0.4266 0.3213 0.3714 0.4908 0.44 0.42 0.32 0.35 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8525 NA NA NA NA NA 0.428 NA 3.5547 1297 18 57136995 57136995 G A intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs643602 0.39 0.39 0.39 0.413339 0.4453 0.4266 0.3213 0.3699 0.4908 0.44 0.42 0.32 0.35 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092841 NA NA NA NA NA 0.428 NA 3.5547 1297 20 3175694 3175694 G A intronic DDRGK1 NA NA NA intronic ENSG00000198171 NA NA NA NA NA 20p13 NA NA NA NA rs2295550 0.42 0.42 0.439 0.439097 0.4453 0.3998 0.3732 0.4644 0.4857 0.45 0.37 0.4 0.47 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910839 NA NA NA NA NA 0.507 NA 3.5547 1297 21 34823252 34823252 C T intronic TMEM50B NA NA NA intronic ENSG00000142188,ENSG00000159128 NA NA NA NA NA 21q22.11 NA NA NA NA rs2834220 0.66 0.66 0.661 0.68151 0.4453 0.8105 0.5937 0.848 0.6288 0.46 0.83 0.57 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.928204 2.928204 NA NA NA NA 0.696 NA 3.5547 1297 17 73125173 73125173 A G UTR3 ARMC7 NM_024585:c.*40A>G NA NA UTR3 ENSG00000125449 ENST00000581078:c.*261A>G,ENST00000245543:c.*40A>G NA NA NA NA 17q25.1 NA Name=Pol2,ZNF263 NA NA rs2291027 0.4 0.4 0.353 0.382588 0.6153 0.2817 0.4553 0.0696 0.6186 0.64 0.29 0.49 0.1 0.5461 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610889 NA NA 0.617598 0.156293 NA 0.507 NA 3.5543354 1297 7 66474559 66474559 G C intronic TYW1 NA NA NA intronic ENSG00000198874 NA NA NA NA NA 7q11.21 NA NA NA NA rs4717339 0.12 0.12 0.109 0.110823 0.166 0.0665 0.1787 0.0567 0.1247 0.16 0.08 0.21 0.05 0.1316 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.938476 NA NA 0.14814 0.074671 NA 0.109 NA 3.55426 1297 4 178262805 178262805 T C intronic NEIL3 NA NA NA intronic ENSG00000109674 NA NA NA NA NA 4q34.3 NA NA NA NA rs35686329 0.11 0.11 0.109 0.0966454 0.16 0.1012 0.0576 0.0242 0.1524 0.16 0.11 0.1 0.03 0.1323 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312055 NA NA 0.153488 0.046527 NA 0.123 NA 3.554212 1297 19 38848861 38848861 C G intronic CATSPERG NA NA NA intronic ENSG00000099338 NA NA NA NA NA 19q13.2 NA NA NA NA rs8106895 0.27 0.27 0.213 0.280551 0.2475 0.3998 0.3761 0.0847 0.3885 0.24 0.44 0.35 0.09 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765534 NA NA 0.198303 0.12211 NA 0.159 NA 3.554197 1297 3 183861750 183861750 A C intronic EIF2B5 NA NA NA intronic ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs843357 0.45 0.45 0.412 0.473842 0.4463 0.5357 0.4524 0.3585 0.6094 0.43 0.53 0.44 0.37 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158043 NA NA NA NA NA 0.377 NA 3.5537 1297 4 34967868 34967868 G T intergenic NONE,ARAP2 dist=NONE;dist=1099752 NA NA ncRNA_exonic ENSG00000238694 NA NA NA NA NA 4p15.1 NA NA NA NA rs6825756 0.48 0.48 0.457 0.485623 0.4463 0.6786 0.5331 0.2958 0.5501 0.45 0.68 0.46 0.3 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468692 NA NA NA NA NA 0.406 NA 3.5537 1297 9 117666678 117666678 G A intronic TNFSF8 NA NA NA intronic ENSG00000106952 NA NA NA NA NA 9q32 NA NA NA NA rs3181367 0.56 0.56 0.568 0.571486 0.4463 0.3859 0.7075 0.8238 0.454 0.44 0.44 0.67 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113527 NA NA NA NA NA 0.507 NA 3.5537 1297 9 128124798 128124798 A T intronic GAPVD1 NA NA NA intronic ENSG00000165219 NA NA NA NA NA 9q33.3 NA NA NA NA rs13291306 0.35 0.35 0.37 0.346446 0.4463 0.2192 0.3213 0.3691 0.362 0.46 0.19 0.32 0.4 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123107 NA NA NA NA NA 0.348 NA 3.5537 1297 13 28958955 28958955 C A intronic FLT1 NA NA NA intronic ENSG00000102755 NA NA NA NA NA 13q12.3 NA NA NA NA rs3751395 0.57 0.57 0.544 0.597644 0.4463 0.6081 0.6758 0.6551 0.6094 0.42 0.65 0.68 0.66 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604729 NA NA NA NA NA 0.717 NA 3.5537 1297 11 118416073 118416073 A C intronic IFT46,TMEM25 NA NA NA intronic ENSG00000118096,ENSG00000149582 NA NA NA NA NA 11q23.3 NA NA NA NA rs3825055 0.23 0.23 0.204 0.258387 0.1342 0.5556 0.0749 0.1611 0.3415 0.13 0.53 0.09 0.14 0.1805 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268178 NA NA 0.131665 0.1575 NA 0.188 NA 3.553635 1297 16 1306268 1306268 C T upstream TPSD1 NA NA NA UTR5 ENSG00000095917 ENST00000211076:c.-14C>T NA NA NA NA 16p13.3 NA NA NA NA rs1969652 0.26 0.26 0.19 0.258986 0.2207 0.1468 0.3386 0.3964 0.1718 0.2 0.15 0.32 0.41 0.2258 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336089 NA NA NA NA NA NA NA 3.5535 1297 19 38778617 38778617 A G intronic SPINT2 NA NA NA intronic ENSG00000167642 NA NA NA NA NA 19q13.2 NA NA NA NA rs8104823 0.13 0.13 0.101 0.145367 0.163 0.0546 0.2305 0.084 0.2434 0.16 0.08 0.24 0.09 0.1525 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054052 NA NA 0.131047 0.098956 NA 0.13 NA 3.553453 1297 12 96387829 96387829 A G intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs17677007 0.08 0.08 0.079 0.0726837 0.1461 0.0476 0.111 0.0091 0.0818 0.14 0.05 0.11 0.02 0.126 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042694 NA NA 0.175116 0.038357 NA 0.022 NA 3.552784 1297 2 114426115 114426115 T C intergenic RABL2A,SLC35F5 dist=25140;dist=45818 NA NA ncRNA_exonic ENSG00000175509 NA NA NA NA NA 2q14.1 NA NA NA NA rs2285396 NA NA 0.44 0.517173 0.4473 0.4147 0.4856 0.7254 0.4356 NA NA NA NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095691 NA NA NA NA NA 0.543 NA 3.5527 1297 2 228513217 228513217 C T intergenic C2orf83,SLC19A3 dist=15181;dist=36709 NA NA ncRNA_exonic ENSG00000250599 NA NA NA NA NA 2q36.3 NA NA NA NA rs6436722 0.55 0.55 0.525 0.588458 0.4473 0.628 0.5331 0.6793 0.6094 0.44 0.61 0.52 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5617 NA NA NA NA NA 0.529 NA 3.5527 1297 6 152774917 152774917 A G intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs214973 0.59 0.59 0.599 0.607428 0.4473 0.749 0.3732 0.8094 0.5194 0.44 0.74 0.4 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858726 NA NA NA NA NA 0.572 NA 3.5527 1297 10 134981942 134981942 C T intronic KNDC1 NA NA NA intronic ENSG00000171798 NA NA NA NA NA 10q26.3 NA NA NA NA rs3008303 0.52 0.52 0.53 0.520966 0.4473 0.5397 0.6513 0.5098 0.5 0.45 0.57 0.6 0.52 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330269 NA NA NA NA NA 0.623 NA 3.5527 1297 15 31244083 31244083 T G intronic MTMR10 NA NA NA intronic ENSG00000166912 NA NA NA NA NA 15q13.3 NA NA NA NA rs2955790 0.52 0.52 0.5 0.499002 0.4473 0.8333 0.4726 0.2602 0.5491 0.46 0.87 0.46 0.25 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032456 NA NA NA NA NA 0.594 NA 3.5527 1297 20 32354990 32354990 G A intronic ZNF341 NA NA NA intronic ENSG00000131061 NA NA NA NA NA 20q11.22 NA NA NA NA rs3813920 0.53 0.53 0.541 0.511382 0.4473 0.7421 0.4971 0.3835 0.5225 0.46 0.76 0.47 0.41 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494588 NA NA NA NA NA 0.536 NA 3.5527 1297 7 21640618 21640618 C G intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs17745898 0.09 0.09 0.075 0.0796725 0.17 0.0337 0.1023 0.0045 0.1196 0.16 0.05 0.12 0.002 0.1182 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.197888 NA NA 0.159413 0.026532 NA 0.203 NA 3.552387 1297 4 1742400 1742400 T C intronic TACC3 NA NA NA ncRNA_exonic ENSG00000218422 NA NA NA NA NA 4p16.3 NA NA NA NA rs4865463 0.72 0.72 0.722 0.698083 0.7813 0.8532 0.6945 0.4644 0.771 0.8 0.87 0.69 0.44 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293063 NA NA NA NA NA 0.754 NA 3.5520333 1297 4 6602255 6602255 A G intronic MAN2B2 NA NA NA intronic ENSG00000013288 NA NA NA NA NA 4p16.1 NA NA NA NA rs2301789 0.52 0.52 0.504 0.519369 0.4483 0.6161 0.4986 0.5386 0.4816 0.45 0.62 0.49 0.52 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252088 1.252088 NA NA NA NA 0.442 NA 3.5517 1297 5 137844274 137844274 A G intronic ETF1 NA NA NA intronic ENSG00000120705 NA NA NA NA NA 5q31.2 NA NA NA NA rs2242599 0.52 0.52 0.535 0.526957 0.4483 0.7788 0.3833 0.4334 0.5767 0.45 0.8 0.39 0.41 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370008 NA NA NA NA NA 0.507 NA 3.5517 1297 5 168244543 168244543 A G intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs905799 0.5 0.5 0.495 0.519169 0.4483 0.6111 0.4121 0.5318 0.5562 0.45 0.59 0.43 0.53 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523531 NA NA NA NA NA 0.457 NA 3.5517 1297 9 123857085 123857085 C T intronic CNTRL NA NA NA intronic ENSG00000119397 NA NA NA NA NA 9q33.2 NA NA NA NA rs10760146 0.42 0.42 0.384 0.430511 0.4483 0.5694 0.4957 0.1233 0.638 0.45 0.58 0.49 0.13 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218496 NA NA NA NA NA 0.384 NA 3.5517 1297 16 84797637 84797637 T A intronic USP10 NA NA NA intronic ENSG00000103194 NA NA NA NA NA 16q24.1 NA NA NA NA rs3213810 0.36 0.36 0.379 0.299521 0.4483 0.0675 0.2767 0.5197 0.1043 0.47 0.07 0.32 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492244 NA NA NA NA NA 0.551 NA 3.5517 1297 19 45004042 45004042 T C intronic ZNF180 NA NA NA intronic ENSG00000167384 NA NA NA NA NA 19q13.31 NA NA NA NA rs12459496 0.34 0.34 0.301 0.349042 0.4483 0.3929 0.3948 0.056 0.5654 0.44 0.37 0.45 0.07 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677691 NA NA NA NA NA 0.254 NA 3.5517 1297 12 52700100 52700100 C A intronic KRT86 NA NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA Name=Rad21,CTCF NA NA rs11612715 0.45 0.45 0.488 0.477835 0.496 0.2321 0.3689 0.6793 0.5174 0.48 0.23 0.38 0.71 0.4681 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.995951 NA NA 0.484419 0.66069 ID=COSN164255;OCCURENCE=1(breast) 0.536 NA 3.551481 1297 6 30574194 30574194 C T intronic PPP1R10 NA NA NA intronic ENSG00000204569 NA NA NA NA NA 6p21.33 NA NA NA NA rs12174151 0.16 0.16 0.123 0.134784 0.1471 0.2927 0.2118 0.0106 0.0726 0.15 0.25 0.21 0.02 0.1544 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.741558 2.741558 NA 0.147244 0.034952 NA 0.116 NA 3.551256 1297 6 24467366 24467366 C T intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs6928435 0.23 0.23 0.252 0.248203 0.164 0.1071 0.147 0.5151 0.1912 0.16 0.11 0.17 0.54 0.1679 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114071 NA NA 0.11686 0.448706 ID=COSN167706;OCCURENCE=1(large_intestine) 0.246 NA 3.55124 1297 2 225365056 225365056 A G intronic CUL3 NA NA NA intronic ENSG00000036257 NA NA NA NA NA 2q36.2 NA NA NA NA rs3768889 0.2 0.2 0.182 0.232827 0.1312 0.2401 0.2262 0.2542 0.3057 0.13 0.24 0.22 0.23 0.1841 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.606892 2.606892 NA 0.133488 0.255334 NA 0.188 NA 3.551212 1297 6 24475300 24475300 A T intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs6901703 0.23 0.23 0.241 0.248003 0.165 0.1062 0.147 0.5151 0.1902 0.16 0.1 0.17 0.54 0.1674 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463082 NA NA 0.11686 0.44916 NA 0.246 NA 3.55074 1297 3 64619048 64619048 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs11717158 0.54 0.54 0.545 0.58107 0.4493 0.5139 0.5346 0.7852 0.5429 0.44 0.49 0.53 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747357 NA NA NA NA NA 0.652 NA 3.5507 1297 10 21536993 21536993 A G intergenic NEBL-AS1,C10orf114 dist=73141;dist=246428 NA NA ncRNA_exonic ENSG00000232853 NA NA NA NA NA 10p12.31 NA NA NA NA rs7900467 0.49 0.49 0.497 0.53754 0.4493 0.1558 0.5144 0.8858 0.5675 0.46 0.17 0.54 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902578 NA NA NA NA NA 0.572 NA 3.5507 1297 12 118511412 118511412 T C intronic VSIG10 NA NA NA intronic ENSG00000176834 NA NA NA NA NA 12q24.23 NA NA NA NA rs55833872 0.53 0.53 0.522 0.52496 0.4493 0.7272 0.4914 0.444 0.5276 0.45 0.75 0.47 0.43 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262197 NA NA NA NA NA 0.362 NA 3.5507 1297 16 84459512 84459512 G C intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs1887 0.4 0.4 0.376 0.408546 0.4493 0.2956 0.4366 0.4539 0.4018 0.46 0.27 0.46 0.44 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215297 NA NA NA NA NA 0.435 NA 3.5507 1297 17 6553583 6553583 G A intronic MED31 NA NA NA intronic ENSG00000108590 NA NA NA NA NA 17p13.1 NA NA NA NA rs2301874 0.34 0.34 0.321 0.309505 0.4493 0.2897 0.3156 0.1747 0.364 0.47 0.32 0.32 0.18 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98793 NA NA NA NA NA 0.188 NA 3.5507 1297 19 36581263 36581263 G C intronic WDR62 NA NA NA intronic ENSG00000075702 NA NA NA NA NA 19q13.12 NA NA NA NA rs3746271 0.47 0.47 0.427 0.412939 0.4493 0.5774 0.5562 0.2731 0.2935 0.46 0.6 0.51 0.31 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321925 NA NA NA NA NA 0.254 NA 3.5507 1297 20 58587484 58587484 A G intronic CDH26 NA NA NA intronic ENSG00000124215 NA NA NA NA NA 20q13.33 NA NA NA NA rs35858953 0.27 0.27 0.227 0.259585 0.4493 0.2063 0.4049 0.0212 0.3384 0.44 0.17 0.4 0.03 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.567607 NA NA NA NA NA 0.239 NA 3.5507 1297 19 54802440 54802440 T G intronic LILRA3 NA NA NA intronic ENSG00000170866 NA NA NA NA NA 19q13.42 NA NA NA NA rs7508470 0.4 0.4 0.348 0.430511 0.1123 0.4256 0.4352 0.8033 0.2556 0.12 0.51 0.34 0.77 0.2346 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710671 NA NA 0.102554 0.609158 NA 0.341 NA 3.550546 1297 19 58797344 58797344 A C intronic ZNF8 NA NA NA UTR3 ENSG00000269545 ENST00000600029:c.*319A>C NA NA NA NA 19q13.43 NA NA NA NA rs400733 0.56 0.56 0.564 0.561102 0.6163 0.5188 0.5533 0.5439 0.5767 0.61 0.52 0.59 0.52 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669778 NA NA NA NA NA 0.63 NA 3.5503667 1297 15 89151262 89151262 T A upstream MIR1179 NA NA NA upstream ENSG00000221630 NA NA NA NA NA 15q26.1 NA NA NA NA rs2350271 0.17 0.17 0.11 0.160942 0.1163 0.4008 0.17 0.0053 0.1636 0.13 0.39 0.15 0.01 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.31117 NA NA NA NA ID=COSN165033;OCCURENCE=1(breast) 0.13 NA 3.5503666 1297 5 161309752 161309752 T G intronic GABRA1 NA NA NA intronic ENSG00000022355 NA NA NA NA NA 5q34 NA NA NA NA rs11135172 0.21 0.21 0.179 NA NA NA NA NA NA 0.27 0.26 0.24 0.03 0.2159 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108116 NA NA 0.233837 0.071072 NA 0.159 NA 3.550263 1297 2 31621598 31621598 T C intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs10175754 0.11 0.11 0.119 0.124002 0.17 0.002 0.1037 0.1793 0.1421 0.15 0.0035 0.12 0.18 0.133 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597072 NA NA 0.146744 0.179528 NA 0.145 NA 3.550256 1297 14 81558965 81558965 A G intronic TSHR NA NA NA intronic ENSG00000165409 NA NA NA NA NA 14q31.1 NA NA NA NA rs2241119 0.29 0.29 0.309 0.29972 0.1262 0.3046 0.1427 0.5953 0.1851 0.12 0.32 0.14 0.62 0.1887 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450351 NA NA 0.134884 0.530186 NA 0.268 NA 3.550216 1297 3 100277514 100277514 G A intronic TMEM45A NA NA NA intronic ENSG00000181458 NA NA NA NA NA 3q12.2 NA NA NA NA rs7645700 0.5 0.5 0.522 0.478235 0.4503 0.3175 0.4337 0.8094 0.2566 0.46 0.33 0.45 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613745 NA NA NA NA NA 0.645 NA 3.5497 1297 7 75442855 75442855 A G intronic CCL24 NA NA NA intronic ENSG00000106178 NA NA NA NA NA 7q11.23 NA NA NA NA rs2302004 0.52 0.52 0.501 0.49401 0.4503 0.6964 0.5447 0.3888 0.4366 0.47 0.69 0.53 0.41 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157274 NA NA NA NA NA 0.536 NA 3.5497 1297 12 57255195 57255195 T C intergenic HSD17B6,SDR9C7 dist=73621;dist=61743 NA NA ncRNA_exonic ENSG00000212383 NA NA NA NA NA 12q13.3 NA NA NA NA rs10783805 0.5 0.5 0.491 0.507588 0.4503 0.6746 0.4179 0.3457 0.6769 0.44 0.72 0.43 0.39 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.999253 NA NA NA NA NA 0.5 NA 3.5497 1297 12 120221636 120221636 C T intronic CIT NA NA NA intronic ENSG00000122966 NA NA NA NA NA 12q24.23 NA NA NA NA rs2240310 0.4 0.4 0.348 0.39357 0.4503 0.4276 0.5648 0.1989 0.4417 0.45 0.38 0.57 0.19 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.532898 2.532898 NA NA NA NA 0.348 NA 3.5497 1297 12 122492978 122492978 T C intronic BCL7A NA NA NA intronic ENSG00000110987 NA NA NA NA NA 12q24.31 NA NA NA NA rs2280574 0.4 0.4 0.392 0.402157 0.4503 0.4732 0.3458 0.3094 0.4448 0.45 0.44 0.38 0.29 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011926 NA NA NA NA NA 0.449 NA 3.5497 1297 13 28592546 28592546 T C intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs17086226 0.21 0.21 0.211 0.249002 0.2107 0.251 0.2176 0.1467 0.4468 0.2 0.29 0.22 0.13 0.2396 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.008251 2.008251 NA NA NA NA 0.268 NA 3.5497 1297 17 7848058 7848058 A C intronic CNTROB NA NA NA intronic ENSG00000170037 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791993 0.56 0.56 0.52 0.604832 0.4503 0.8016 0.6614 0.447 0.7342 0.46 0.74 0.61 0.48 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166033 NA NA NA NA NA 0.522 NA 3.5497 1297 19 44977240 44977240 A G intergenic ZNF229,ZNF180 dist=24575;dist=2619 NA NA ncRNA_exonic ENSG00000176761 NA NA NA NA NA 19q13.31 NA NA NA NA rs1897823 0.46 0.46 0.47 0.434505 0.4503 0.4335 0.2939 0.6225 0.2648 0.45 0.48 0.32 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.775476 NA NA NA NA NA 0.478 NA 3.5497 1297 22 38539041 38539041 T C intronic PLA2G6 NA NA NA intronic ENSG00000184381 NA NA NA NA NA 22q13.1 NA NA NA NA rs4375 0.44 0.44 0.44 0.497604 0.4503 0.2887 0.4712 0.6437 0.5828 0.41 0.28 0.5 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.176567 3.176567 NA NA NA NA 0.565 NA 3.5497 1297 2 225376034 225376034 G A intronic CUL3 NA NA NA intronic ENSG00000036257 NA NA NA NA NA 2q36.2 NA NA NA NA rs11686067 0.2 0.2 0.188 0.232827 0.1312 0.2401 0.2262 0.2542 0.3057 0.14 0.25 0.23 0.23 0.1855 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317291 NA NA 0.133752 0.253975 NA 0.188 NA 3.549548 1297 9 27229141 27229141 T C intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs2273715 0.19 0.19 0.199 0.223043 0.1282 0.1855 0.1614 0.3752 0.1973 0.14 0.17 0.14 0.32 0.1724 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039587 NA NA 0.150233 0.330005 NA 0.21 NA 3.549167 1297 14 106110137 106110137 C T intergenic TMEM121,ELK2AP dist=113598;dist=25777 NA NA exonic ENSG00000211893 NA nonsynonymous SNV ENSG00000211893:ENST00000390545:exon3:c.G481A:p.V161M NA NA 14q32.33 NA NA NA NA rs8009156 0.29 0.29 0.239 0.298123 0.4384 0.5337 0.2622 0.0174 0.316 0.42 0.35 0.28 0.01 0.3926 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812272 NA NA 0.453205 0.086927 NA 0.174 NA 3.5491284 1297 7 100552338 100552338 C T intergenic ACHE,MUC12 dist=58797;dist=60566 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C1089T:p.T363T NA NA 7q22.1 NA NA NA NA rs73398798 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.496 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927799 NA NA 0.455048 0.447489 NA 0.101 NA 3.548952 1297 22 45758758 45758758 T C intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 Score=900;Name=V$PAX4_02 NA NA NA rs719925 0.36 0.36 0.339 0.299521 0.495 0.2996 0.4697 0.0817 0.272 0.51 0.34 0.43 0.1 0.4349 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193058 NA NA 0.521368 0.15397 NA 0.203 NA 3.548732 1297 3 53890787 53890787 G A intronic IL17RB NA NA NA intronic ENSG00000056736 NA NA NA NA NA 3p21.1 NA NA NA NA rs3821867 0.64 0.64 0.652 0.66853 0.4513 0.9444 0.6095 0.6324 0.6984 0.43 0.95 0.6 0.65 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582341 NA NA NA NA NA 0.623 NA 3.5487 1297 3 64617042 64617042 G C intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs6768487 0.56 0.56 0.557 0.604233 0.4513 0.5556 0.5389 0.8011 0.592 0.44 0.54 0.54 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168294 NA NA NA NA NA 0.652 NA 3.5487 1297 5 175992519 175992519 T A intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs4523018 0.25 0.25 0.207 0.219649 0.4513 0.0248 0.4135 0.0976 0.2096 0.45 0.02 0.41 0.11 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356913 NA NA NA NA NA 0.268 NA 3.5487 1297 8 27288033 27288033 T C intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs7827965 0.4 0.4 0.407 0.444489 0.4513 0.2698 0.438 0.4985 0.5491 0.47 0.23 0.42 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120217 NA NA NA NA NA 0.529 NA 3.5487 1297 17 61564522 61564522 T C intronic ACE NA NA NA intronic ENSG00000159640,ENSG00000264813 NA NA NA NA NA 17q23.3 NA NA NA NA rs4333 0.53 0.53 0.473 0.542931 0.4513 0.6756 0.5951 0.4213 0.6278 0.46 0.69 0.59 0.44 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618251 NA NA NA NA NA 0.529 NA 3.5487 1297 19 10886206 10886206 G T intronic DNM2 NA NA NA intronic ENSG00000079805 NA NA NA NA NA 19p13.2 NA NA NA NA rs4804528 0.3 0.3 0.277 0.257788 0.4513 0.2073 0.2334 0.1225 0.3108 0.47 0.22 0.27 0.14 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184403 NA NA NA NA NA 0.246 NA 3.5487 1297 22 22758721 22758721 C T intergenic LOC96610,ZNF280B dist=81397;dist=80051 NA NA ncRNA_intronic ENSG00000253818 NA NA NA NA NA 22q11.22 NA NA NA NA rs426552 0.45 0.45 0.414 0.478035 0.4513 0.3145 0.5922 0.5477 0.499 0.45 0.31 0.54 0.53 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546802 NA NA NA NA NA 0.457 NA 3.5487 1297 19 7626071 7626071 T C intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs62111319 0.12 0.12 0.123 0.1248 0.1471 NA 0.1095 0.2466 0.0767 0.14 NA 0.1 0.24 0.1566 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474831 NA NA 0.147627 0.226715 NA 0.261 NA 3.548673 1297 16 72198642 72198642 G A intronic PMFBP1 NA NA NA intronic ENSG00000118557 NA NA NA NA NA 16q22.2 NA NA NA NA rs3852785 0.08 0.08 0.073 0.0856629 0.1531 0.0218 0.0648 0.0113 0.1973 0.16 0.02 0.08 0.02 0.1413 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290093 NA NA 0.157442 0.033894 NA 0.145 NA 3.548158 1297 14 104578817 104578817 G A intronic ASPG NA NA NA intronic ENSG00000166183 NA NA NA NA NA 14q32.33 NA NA NA NA rs11850264 0.08 0.08 0.07 0.067492 0.159 NA 0.0951 0.0272 0.0777 0.16 NA 0.1 0.03 0.129 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784128 NA NA 0.163975 0.050823 NA 0.072 NA 3.548025 1297 15 89401615 89401615 T G exonic ACAN NA synonymous SNV ACAN:NM_001135:exon12:c.T5799G:p.T1933T,ACAN:NM_013227:exon12:c.T5799G:p.T1933T exonic ENSG00000157766 NA synonymous SNV ENSG00000157766:ENST00000561243:exon11:c.T5799G:p.T1933T,ENSG00000157766:ENST00000352105:exon12:c.T5799G:p.T1933T,ENSG00000157766:ENST00000439576:exon12:c.T5799G:p.T1933T,ENSG00000157766:ENST00000559004:exon12:c.T5799G:p.T1933T NA NA 15q26.1 NA NA NA NA rs3825994 0.58 0.58 0.545 0.532548 0.7326 0.5427 0.5879 0.3593 0.5112 0.75 0.51 0.62 0.35 0.6399 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101855 NA NA 0.746184 0.437565 NA 0.572 NA 3.5479826 1297 7 142832255 142832255 C T intronic PIP NA NA NA intronic ENSG00000159763 NA NA NA NA NA 7q34 NA NA NA NA rs10234174 0.21 0.21 0.227 0.218251 0.1412 0.0357 0.1441 0.5499 0.09 0.13 0.04 0.16 0.55 0.1734 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025839 NA NA 0.137474 0.482524 NA 0.261 NA 3.547926 1297 2 225367669 225367669 C T intronic CUL3 NA NA NA intronic ENSG00000036257 NA NA NA NA NA 2q36.2 NA NA NA NA rs3754629 0.2 0.2 0.195 0.232628 0.1322 0.2401 0.2262 0.2526 0.3057 0.13 0.24 0.22 0.23 0.1857 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479744 NA NA 0.134302 0.255107 NA 0.188 NA 3.547798 1297 9 19326053 19326053 G T intronic DENND4C NA NA NA intronic ENSG00000137145 NA NA NA NA NA 9p22.1 NA NA NA NA rs2256093 0.18 0.18 0.199 0.233227 0.1471 0.0169 0.1671 0.5272 0.1943 0.11 0.02 0.15 0.51 0.1693 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53816 NA NA 0.135814 0.439174 NA 0.232 NA 3.547786 1297 16 4253117 4253117 C T intronic SRL NA NA NA intronic ENSG00000185739 NA NA NA NA NA 16p13.3 NA NA NA NA rs13339613 0.12 0.12 0.095 0.0986422 0.1491 0.0516 0.2378 0.034 0.0838 0.14 0.05 0.24 0.07 0.1438 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158473 NA NA 0.159356 0.060916 NA 0.159 NA 3.547744 1297 5 31407139 31407139 G C intronic DROSHA NA NA NA intronic ENSG00000113360 NA NA NA NA NA 5p13.3 NA NA NA NA rs507816 0.59 0.59 0.614 0.598642 0.4523 0.6776 0.5202 0.7292 0.547 0.45 0.72 0.52 0.7 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.238394 NA NA NA NA NA 0.5 NA 3.5477 1297 6 131490472 131490472 T C intronic AKAP7 NA NA NA intronic ENSG00000118507 NA NA NA NA NA 6q23.2 NA NA NA NA rs1408027 0.53 0.53 0.5 0.53754 0.4523 0.7609 0.4957 0.447 0.547 0.44 0.74 0.46 0.46 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565984 NA NA NA NA NA 0.514 NA 3.5477 1297 10 97987378 97987378 G A intronic BLNK NA NA NA intronic ENSG00000095585 NA NA NA NA NA 10q24.1 NA NA NA NA rs34233512 0.26 0.26 0.22 0.219249 0.4523 0.0377 0.415 0.0893 0.2035 0.44 0.05 0.44 0.1 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.965461 NA NA NA NA NA 0.188 NA 3.5477 1297 11 103780610 103780610 C T intronic PDGFD NA NA NA intronic ENSG00000170962 NA NA NA NA NA 11q22.3 NA NA NA NA rs4754997 0.47 0.47 0.471 0.461661 0.4523 0.4603 0.3487 0.5106 0.4867 0.44 0.5 0.39 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882637 NA NA NA NA NA 0.384 NA 3.5477 1297 17 31082747 31082747 T C intronic MYO1D NA NA NA intronic ENSG00000176658 NA NA NA NA NA 17q11.2 NA NA NA NA rs4548927 0.57 0.57 0.582 0.581669 0.4523 0.7242 0.4942 0.6808 0.4959 0.46 0.72 0.49 0.63 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406836 NA NA NA NA NA 0.572 NA 3.5477 1297 18 48328003 48328003 T C intronic MRO NA NA NA intronic ENSG00000134042 NA NA NA NA NA 18q21.2 NA NA NA NA rs2255059 0.42 0.42 0.426 0.417732 0.4523 0.4177 0.4135 0.4198 0.3824 0.45 0.42 0.41 0.41 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296011 NA NA NA NA NA 0.543 NA 3.5477 1297 1 161126975 161126975 C G intronic UFC1 NA NA NA ncRNA_intronic ENSG00000224985 NA NA NA NA NA 1q23.3 NA NA NA NA rs12031437 0.38 0.38 0.354 0.354633 0.3996 0.4494 0.3746 0.2322 0.362 0.4 0.47 0.36 0.24 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645462 NA NA 0.386864 0.261561 NA 0.362 NA 3.5468693 1297 1 7792411 7792411 C T intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs2301488 0.47 0.47 0.438 0.455471 0.4533 0.4365 0.4885 0.4334 0.4836 0.46 0.45 0.48 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106304 NA NA NA NA NA 0.42 NA 3.5467 1297 9 127970114 127970114 C A intronic RABEPK NA NA NA intronic ENSG00000136933 NA NA NA NA NA 9q33.3 NA NA NA NA rs472533 0.52 0.52 0.488 0.521366 0.4533 0.62 0.487 0.5696 0.4489 0.42 0.64 0.49 0.54 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077565 NA NA NA NA NA 0.536 NA 3.5467 1297 15 42115019 42115019 C T intronic MAPKBP1 NA NA NA intronic ENSG00000137802 NA NA NA NA NA 15q15.1 NA NA NA NA rs34055060 0.26 0.26 0.242 0.284345 0.4533 0.0357 0.3112 0.2148 0.4417 0.43 0.02 0.32 0.22 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44938 NA NA NA NA NA 0.283 NA 3.5467 1297 20 25846228 25846228 A C intergenic FAM182B,LOC100134868 dist=64301;dist=144207 NA NA intronic ENSG00000175170 NA NA NA NA NA 20p11.1 NA NA NA NA rs6115348 0.25 0.25 0.172 0.207867 0.1203 0.0129 0.2277 0.4183 0.2004 0.19 0.08 0.32 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40124 NA NA NA NA NA 0.159 NA 3.5463667 1297 6 41708374 41708374 G A intronic PGC NA NA NA intronic ENSG00000096088 NA NA NA NA NA 6p21.1 NA NA NA NA rs4714509 0.18 0.18 0.165 0.170727 0.1282 0.254 0.2651 0.1256 0.1227 0.13 0.26 0.22 0.13 0.1729 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37479 1.37479 NA 0.152558 0.140036 NA 0.109 NA 3.546342 1297 16 28845584 28845584 C T intronic ATXN2L NA NA NA ncRNA_intronic ENSG00000260570 NA NA NA NA NA 16p11.2 NA NA NA NA rs35725751 0.26 0.26 0.267 0.302716 0.2624 0.3075 0.1888 0.2277 0.5215 0.23 0.31 0.23 0.26 0.2672 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.273591 NA NA 0.257687 0.213853 NA 0.29 NA 3.5460463 1297 15 33895613 33895613 G T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2291729 0.15 0.15 0.138 0.135783 0.1541 0.123 0.1138 0.1407 0.1391 0.15 0.12 0.14 0.17 0.1451 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03502 NA NA 0.154799 0.117247 NA 0.138 NA 3.546001 1297 16 3434966 3434966 T C intronic ZSCAN32 NA NA NA ncRNA_intronic ENSG00000262621 NA NA NA NA NA 16p13.3 NA NA NA NA rs27231 0.24 0.24 0.214 0.233027 0.2565 0.1468 0.2161 0.2776 0.2495 0.27 0.14 0.22 0.3 0.2583 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795251 NA NA 0.272674 0.279144 NA 0.384 NA 3.5458593 1297 6 158359817 158359817 T G intronic SNX9 NA NA NA intronic ENSG00000130340 NA NA NA NA NA 6q25.3 NA NA NA NA rs113710023 NA NA NA 0.207268 0.2366 0.1349 0.1297 0.2625 0.2321 NA NA NA NA 0.2176 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.698999 NA NA NA NA NA NA NA 3.5458 1297 1 43357803 43357803 G T intergenic ZNF691,SLC2A1 dist=39657;dist=33243 NA NA ncRNA_exonic ENSG00000237090 NA NA NA NA NA 1p34.2 NA NA NA NA rs2792600 NA NA 0.295 0.322085 0.4543 0.1895 0.2795 0.3298 0.3425 NA NA NA NA NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69608 NA NA NA NA NA 0.514 NA 3.5457 1297 4 48565101 48565101 A T intronic FRYL NA NA NA intronic ENSG00000075539 NA NA NA NA NA 4p11 NA NA NA NA rs13138269 0.48 0.48 0.494 0.554712 0.4543 0.5288 0.3573 0.7027 0.6247 0.45 0.49 0.32 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105759 NA NA NA NA NA 0.558 NA 3.5457 1297 4 68956422 68956422 T A intronic TMPRSS11F NA NA NA intronic ENSG00000198092 NA NA NA NA NA 4q13.2 NA NA NA NA rs57121360 0.39 0.39 0.367 0.36901 0.4543 0.4067 0.3631 0.261 0.3926 0.45 0.39 0.41 0.27 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828744 NA NA NA NA NA 0.326 NA 3.5457 1297 5 70927856 70927856 G A intronic MCCC2 NA NA NA intronic ENSG00000131844 NA NA NA NA NA 5q13.2 NA NA NA NA rs277980 0.39 0.39 0.395 0.395966 0.4543 0.3244 0.3026 0.3835 0.4928 0.46 0.33 0.34 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605602 NA NA NA NA NA 0.399 NA 3.5457 1297 6 152534947 152534947 T A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs2763029 0.28 0.28 0.301 0.307508 0.4543 0.2351 0.3055 0.2814 0.2679 0.4 0.18 0.29 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066235 NA NA NA NA NA NA NA 3.5457 1297 10 97983526 97983526 C T intronic BLNK NA NA NA intronic ENSG00000095585 NA NA NA NA NA 10q24.1 NA NA NA NA rs10882746 0.42 0.42 0.43 0.439497 0.4543 0.3036 0.3876 0.4962 0.5245 0.45 0.34 0.41 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810195 NA NA NA NA NA 0.478 NA 3.5457 1297 16 20999464 20999464 C A intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs4783517 0.48 0.48 0.478 0.520767 0.4543 0.4851 0.5187 0.5333 0.6104 0.44 0.47 0.49 0.56 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156834 NA NA NA NA NA 0.507 NA 3.5457 1297 19 11446520 11446520 T G intronic RAB3D NA NA NA intronic ENSG00000105514 NA NA NA NA NA 19p13.2 NA NA NA NA rs3816864 0.29 0.29 0.309 0.289337 0.4543 0.1062 0.2478 0.32 0.2965 0.45 0.1 0.28 0.28 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467936 NA NA NA NA NA 0.304 NA 3.5457 1297 11 64024048 64024048 G C intronic PLCB3 NA NA NA intronic ENSG00000149782 NA NA NA NA NA 11q13.1 NA NA NA NA rs28395875 0.11 0.11 0.087 0.0902556 0.165 0.1081 0.1225 0.0242 0.0613 0.17 0.11 0.12 0.02 0.1291 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616398 NA NA 0.160461 0.050886 NA 0.051 NA 3.545439 1297 19 4310327 4310327 C T intronic FSD1 NA NA NA intronic ENSG00000105255 NA NA NA NA NA 19p13.3 NA NA NA NA rs11879976 0.1 0.1 0.084 0.11881 0.1541 0.0466 0.1484 0.0575 0.2188 0.14 0.07 0.16 0.04 0.1469 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127901 NA NA 0.153721 0.067862 NA 0.08 NA 3.545279 1297 11 62460066 62460066 T C ncRNA_intronic HNRNPUL2-BSCL2 NA NA NA intronic ENSG00000168000,ENSG00000234857 NA NA NA NA NA 11q12.3 NA NA NA NA rs2850596 0.74 0.74 0.709 0.747204 0.7883 0.7609 0.8141 0.649 0.7761 0.78 0.78 0.78 0.63 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620648 NA NA NA NA NA 0.674 NA 3.5450333 1298 3 129695373 129695373 T C intronic TRH NA NA NA intronic ENSG00000170893 NA NA NA NA NA 3q22.1 NA NA NA NA rs7645772 0.28 0.28 0.261 0.272165 0.4553 0.2024 0.353 0.0741 0.3661 0.44 0.22 0.33 0.08 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.808662 NA NA NA NA NA 0.304 NA 3.5447 1298 11 1462217 1462217 C T intronic BRSK2 NA NA NA intronic ENSG00000174672 NA NA NA NA NA 11p15.5 NA NA NA NA rs9651643 0.35 0.35 0.369 0.304712 0.4553 0.0615 0.2983 0.4244 0.2434 0.47 0.06 0.36 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210128 NA NA NA NA NA 0.065 NA 3.5447 1298 17 3638344 3638344 G A intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA NA NA NA rs9674606 0.35 0.35 0.34 0.336861 0.4553 0.3026 0.3386 0.2481 0.3691 0.46 0.31 0.33 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640168 NA NA NA NA NA 0.399 NA 3.5447 1298 17 3846899 3846899 C A intronic ATP2A3 NA NA NA intronic ENSG00000074370 NA NA NA NA NA 17p13.2 NA NA NA NA rs757611 0.35 0.35 0.31 0.338059 0.4553 0.0843 0.4582 0.4145 0.2904 0.47 0.08 0.49 0.38 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05826 NA NA NA NA NA 0.341 NA 3.5447 1298 18 46343818 46343818 T C intronic CTIF NA NA NA intronic ENSG00000134030 NA NA NA NA NA 18q21.1 NA NA NA NA rs9951895 0.61 0.61 0.569 0.60623 0.4553 0.6389 0.6254 0.7897 0.4663 0.44 0.66 0.63 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494775 NA NA NA NA NA 0.5 NA 3.5447 1298 22 19211665 19211665 C T intronic CLTCL1 NA NA NA intronic ENSG00000070371 NA NA NA NA NA 22q11.21 NA NA NA NA rs9604935 0.33 0.33 0.314 0.360823 0.4553 0.2748 0.3991 0.2005 0.5419 0.45 0.24 0.36 0.21 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106742 NA NA NA NA NA 0.246 NA 3.5447 1298 10 133976706 133976706 G T intronic JAKMIP3 NA NA NA intronic ENSG00000188385 NA NA NA NA NA 10q26.3 NA Name=HA-E2F1 NA NA rs12776458 0.36 0.36 0.325 0.330671 0.4851 0.3234 0.5317 0.1142 0.3292 0.48 0.31 0.48 0.13 0.4526 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269003 NA NA 0.517639 0.180222 NA 0.428 NA 3.544661 1298 12 118509138 118509138 A G intronic VSIG10 NA NA NA intronic ENSG00000176834 NA NA NA NA NA 12q24.23 NA NA NA NA rs9669300 0.2 0.2 0.194 0.202276 0.1461 0.253 0.1499 0.2156 0.227 0.16 0.26 0.15 0.23 0.1711 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069756 NA NA 0.13815 0.209781 NA 0.174 NA 3.54465 1298 12 7655137 7655137 A G exonic CD163 NA synonymous SNV CD163:NM_004244:exon2:c.T70C:p.L24L,CD163:NM_203416:exon2:c.T70C:p.L24L exonic ENSG00000177575 NA synonymous SNV ENSG00000177575:ENST00000359156:exon2:c.T70C:p.L24L,ENSG00000177575:ENST00000396620:exon2:c.T70C:p.L24L,ENSG00000177575:ENST00000432237:exon2:c.T70C:p.L24L,ENSG00000177575:ENST00000541972:exon2:c.T34C:p.L12L NA NA 12p13.31 NA NA NA NA rs3210140 0.5 0.5 0.455 0.462061 0.7346 0.3829 0.6931 0.1452 0.5276 0.72 0.39 0.67 0.16 0.6676 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.323335 NA NA 0.719935 0.226942 NA 0.486 NA 3.5445316 1298 18 3214918 3214918 G C intronic MYOM1 NA NA NA ncRNA_intronic ENSG00000265399 NA NA NA NA NA 18p11.31 NA NA NA NA rs7232679 0.27 0.27 0.242 0.286142 0.2416 0.2252 0.2478 0.388 0.2843 0.23 0.21 0.23 0.42 0.2857 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848929 NA NA 0.261505 0.350912 NA 0.203 NA 3.5445283 1298 2 228973660 228973660 A G intronic SPHKAP NA NA NA intronic ENSG00000153820 NA NA NA Score=385;Name=lod=49 NA 2q36.3 NA NA NA NA rs7561798 0.5 0.5 0.473 0.478634 0.4751 0.6756 0.6369 0.3064 0.3998 0.45 0.65 0.61 0.33 0.4953 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221825 NA NA 0.485116 0.331593 NA 0.543 NA 3.544484 1298 2 165579065 165579065 T G intronic COBLL1 NA NA NA intronic ENSG00000082438 NA NA NA NA NA 2q24.3 NA NA NA NA rs10167778 0.18 0.18 0.184 0.17492 0.1571 0.1052 0.1124 0.3374 0.09 0.16 0.12 0.11 0.34 0.1517 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516461 NA NA 0.146799 0.321347 NA 0.217 NA 3.544401 1298 14 106110914 106110914 G T intergenic TMEM121,ELK2AP dist=114375;dist=25000 NA NA exonic ENSG00000211893 NA nonsynonymous SNV ENSG00000211893:ENST00000390545:exon1:c.C214A:p.P72T NA NA 14q32.33 NA NA NA NA rs11627594 0.29 0.29 0.241 0.297324 0.4364 0.5308 0.2651 0.0174 0.3149 0.43 0.35 0.29 0.01 0.3944 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495244 NA NA 0.458314 0.092904 NA 0.109 NA 3.5442194 1298 15 48779402 48779402 C T intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA NA NA rs11853943 0.21 0.21 0.197 0.196486 0.1461 0.3512 0.1787 0.1604 0.1503 0.14 0.38 0.15 0.15 0.1709 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33311 NA NA 0.138966 0.167652 NA 0.13 NA 3.544034 1298 1 220205943 220205943 G A ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs2789816 0.83 0.83 0.83 0.828275 0.7893 0.9375 0.8444 0.7504 0.8497 0.79 0.94 0.83 0.77 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.194677 NA NA NA NA NA 0.826 NA 3.5440333 1298 11 65391317 65391317 G A intronic PCNXL3 NA NA NA intronic ENSG00000197136 NA NA NA NA NA 11q13.1 NA NA NA NA rs12801636 0.32 0.32 0.298 0.30611 0.2237 0.4266 0.4395 0.2655 0.227 0.22 0.44 0.4 0.26 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.527982 2.527982 NA 0.232558 0.231936 NA 0.268 NA 3.543742 1298 3 179593072 179593072 T A intronic PEX5L NA NA NA intronic ENSG00000114757 NA NA NA NA NA 3q26.33 NA NA NA NA rs55664665 0.53 0.53 0.485 0.548722 0.4563 0.7917 0.5389 0.3949 0.6084 0.43 0.81 0.49 0.37 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094725 NA NA NA NA NA 0.529 NA 3.5437 1298 6 69724069 69724069 G A intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA NA NA 6q12 NA NA NA NA rs1336655 0.31 0.31 0.317 0.31849 0.4563 0.0357 0.2594 0.4871 0.2822 0.46 0.04 0.3 0.41 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029855 NA NA NA NA NA 0.29 NA 3.5437 1298 7 6641635 6641635 C T intronic C7orf26 NA NA NA intronic ENSG00000146576 NA NA NA NA NA 7p22.1 NA NA NA NA rs13246348 0.29 0.29 0.273 0.225639 0.4563 0.2391 0.2968 0.0726 0.1309 0.44 0.26 0.32 0.08 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731725 NA NA NA NA NA 0.333 NA 3.5437 1298 9 127969785 127969785 G A intronic RABEPK NA NA NA intronic ENSG00000136933 NA NA NA NA NA 9q33.3 NA NA NA NA rs420423 0.53 0.53 0.529 0.537939 0.4563 0.6488 0.5086 0.5787 0.4734 0.42 0.67 0.49 0.55 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695966 NA NA NA NA NA 0.565 NA 3.5437 1298 16 90094195 90094195 A G intronic GAS8 NA NA NA intronic ENSG00000141013 NA NA NA NA NA 16q24.3 NA NA NA NA rs3743827 0.6 0.6 0.554 0.589257 0.4563 0.7927 0.6182 0.5197 0.59 0.46 0.85 0.57 0.53 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358201 NA NA NA NA NA 0.565 NA 3.5437 1298 X 1404832 1404832 T G intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA NA NA NA rs28716068 0.16 0.16 0.14229 NA NA NA NA NA NA 0.26 0.11 0.21 0.04 0.2092 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.05827 NA NA 0.247207 0.072628 NA 0.203 NA 3.543593 1298 5 159841493 159841493 A T intronic SLU7 NA NA NA intronic ENSG00000164609 NA NA NA NA NA 5q33.3 NA NA NA NA rs79791419 0.07 0.07 0.043 0.0656949 0.1103 0.001 0.072 0.0802 0.0624 0.11 0.0017 0.08 0.08 0.2767 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724915 NA NA 0.069467 0.054368 NA 0.029 NA 3.543533 1298 19 49520315 49520315 T C intronic LHB NA NA NA intronic ENSG00000104826 NA NA NA NA NA 19q13.33 NA Name=Egr-1 NA NA rs2387589 0.44 0.44 0.373 0.434505 0.4891 0.2758 0.5562 0.3994 0.5031 0.5 0.29 0.53 0.43 0.4829 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213516 NA NA 0.484531 0.406945 NA 0.413 NA 3.543469 1298 3 71247304 71247304 A G intronic FOXP1 NA NA NA intronic ENSG00000114861 NA NA NA NA NA 3p13 NA NA NA NA rs2037474 0.27 0.27 0.206 0.282348 0.1362 0.4355 0.3429 0.2723 0.2454 0.13 0.42 0.34 0.26 0.2009 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24286 NA NA 0.119651 0.255561 NA 0.123 NA 3.543249 1298 2 165586652 165586652 C T intronic COBLL1 NA NA NA intronic ENSG00000082438 NA NA NA NA NA 2q24.3 NA NA NA NA rs13432439 0.18 0.18 0.183 0.172125 0.1571 0.1052 0.111 0.3275 0.09 0.16 0.12 0.11 0.32 0.1522 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407106 NA NA 0.147558 0.309351 ID=COSN166317;OCCURENCE=1(NS) 0.21 NA 3.543142 1298 17 66425995 66425995 T G intronic WIPI1 NA NA NA ncRNA_intronic ENSG00000267009 NA NA NA NA NA 17q24.2 NA NA NA NA rs3785610 0.78 0.78 0.739 0.775559 0.7903 0.6865 0.8458 0.8238 0.7372 0.8 0.68 0.84 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79742 NA NA NA NA NA NA NA 3.5430333 1298 17 66425997 66425997 C T intronic WIPI1 NA NA NA ncRNA_intronic ENSG00000267009 NA NA NA NA NA 17q24.2 NA NA NA NA rs3785611 0.78 0.78 0.742 0.775559 0.7903 0.6865 0.8458 0.8238 0.7372 0.8 0.68 0.84 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789573 NA NA NA NA NA NA NA 3.5430333 1298 11 93754508 93754508 G A UTR5 HEPHL1 NM_001098672:c.-27G>A NA NA upstream ENSG00000181333 NA NA NA NA NA 11q21 NA Name=Pol2(b) Name=11 NA rs2511403 0.74 0.74 0.732 0.748403 0.8201 0.7738 0.8285 0.5522 0.8569 0.84 0.75 0.83 0.52 0.8135 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215218 NA NA 0.823458 0.601682 NA 0.703 NA 3.542942 1298 10 118363642 118363642 T C exonic PNLIPRP1 NA synonymous SNV PNLIPRP1:NM_006229:exon11:c.T1164C:p.S388S exonic ENSG00000187021 NA synonymous SNV ENSG00000187021:ENST00000534537:exon10:c.T1164C:p.S388S,ENSG00000187021:ENST00000358834:exon11:c.T1164C:p.S388S,ENSG00000187021:ENST00000528052:exon11:c.T1164C:p.S388S NA NA 10q25.3 NA NA NA NA rs3010501 0.72 0.72 0.706 0.70627 0.6918 0.8988 0.7637 0.5363 0.7117 0.68 0.89 0.73 0.55 0.7192 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.199587 NA NA 0.712791 0.566954 NA 0.739 NA 3.5428756 1298 19 55493095 55493095 C G intronic NLRP2 NA NA NA intronic ENSG00000022556 NA NA NA NA NA 19q13.42 NA NA NA NA rs17781858 0.21 0.21 0.209 0.173123 0.1521 0.3601 0.1585 0.1067 0.1022 0.15 0.41 0.14 0.12 0.1593 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506674 NA NA 0.145814 0.113482 NA 0.196 NA 3.542786 1298 3 41279440 41279440 A G intronic CTNNB1 NA NA NA intronic ENSG00000168036 NA NA NA NA NA 3p22.1 NA NA NA NA rs4135385 0.26 0.26 0.225 0.232827 0.2366 0.5308 0.2795 0.0113 0.1881 0.23 0.52 0.24 0.02 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850945 NA NA 0.220616 0.051301 NA 0.188 NA 3.542784 1298 17 45755810 45755810 G A intronic KPNB1 NA NA NA intronic ENSG00000108424 NA NA NA NA NA 17q21.32 NA NA Name=2 NA rs4239162 0.49 0.49 0.521 0.511581 0.4732 0.4435 0.4236 0.6634 0.4785 0.47 0.46 0.46 0.57 0.4906 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617395 NA NA 0.493488 0.600772 NA 0.486 NA 3.542712 1298 1 183104013 183104013 G A intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs2296299 NA NA NA 0.429912 0.4573 0.5188 0.4063 0.3729 0.4039 NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.007273 NA NA NA NA NA 0.442 NA 3.5427 1298 5 170162666 170162666 T C intronic KCNIP1 NA NA NA intronic ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs1363712 0.27 0.27 0.243 0.235224 0.4573 0.0486 0.3415 0.1581 0.228 0.46 0.04 0.41 0.13 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173817 NA NA NA NA NA 0.283 NA 3.5427 1298 6 148853867 148853867 T C intronic SASH1 NA NA NA intronic ENSG00000111961 NA NA NA NA NA 6q24.3 NA NA NA NA rs1465307 0.45 0.45 0.426 0.477636 0.4573 0.4544 0.5173 0.407 0.59 0.48 0.42 0.51 0.4 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204471 NA NA NA NA NA 0.457 NA 3.5427 1298 9 95648430 95648430 C T intergenic ZNF484,FGD3 dist=8110;dist=61171 NA NA ncRNA_exonic ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs2281716 0.53 0.53 0.485 0.52516 0.4573 0.6171 0.5447 0.5598 0.4397 0.42 0.62 0.57 0.58 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60368 NA NA NA NA NA 0.261 NA 3.5427 1298 16 68718367 68718367 T C intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs4783661 0.43 0.43 0.396 0.402356 0.4573 0.5546 0.4409 0.1687 0.4775 0.47 0.59 0.45 0.17 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368872 NA NA NA NA NA 0.486 NA 3.5427 1298 17 25601156 25601156 T C intergenic NONE,MIR4522 dist=NONE;dist=19780 NA NA ncRNA_exonic ENSG00000239223 NA NA NA NA NA 17q11.1 NA NA NA NA rs34645010 0.48 0.48 NA 0.549121 0.4573 0.2688 0.4222 0.8495 0.6166 0.44 0.26 0.43 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639222 NA NA NA NA NA 0.087 NA 3.5427 1298 6 6196142 6196142 G A intronic F13A1 NA NA NA intronic ENSG00000124491 NA NA NA NA NA 6p25.1 NA NA NA NA rs5977 0.11 0.11 0.133 0.160343 0.1342 0.2143 0.1268 0.0257 0.3374 0.12 0.2 0.09 0.03 0.1716 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083683 NA NA 0.151512 0.049251 NA NA NA 3.542688 1298 2 95952641 95952641 A G intronic PROM2 NA NA NA intronic ENSG00000155066 NA NA NA NA NA 2q11.1 NA NA NA NA rs1006021 0.23 0.23 0.182 0.234425 0.1372 0.1776 0.3804 0.3555 0.1258 0.14 0.18 0.35 0.36 0.1835 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.41022 1.41022 NA 0.137093 0.32433 NA 0.159 NA 3.542207 1298 16 27476548 27476548 G A intronic GTF3C1 NA NA NA intronic ENSG00000077235 NA NA NA NA NA 16p12.1 NA NA NA NA rs12925626 0.15 0.15 0.134 0.141973 0.162 0.001 0.2075 0.2746 0.0409 0.17 NA 0.19 0.26 0.1426 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789975 NA NA 0.153256 0.247155 NA 0.123 NA 3.542144 1298 1 17593144 17593144 C G intronic PADI3 NA NA NA intronic ENSG00000142619 NA NA NA NA NA 1p36.13 NA NA NA NA rs2272628 0.49 0.49 0.478 0.527756 0.4583 0.4405 0.4222 0.6339 0.6207 0.44 0.44 0.44 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023118 NA NA NA NA NA 0.514 NA 3.5417 1298 2 228758456 228758456 C A intronic DAW1 NA NA NA intronic ENSG00000123977 NA NA NA NA NA 2q36.3 NA NA NA NA rs35758334 0.4 0.4 0.37 0.405551 0.4583 0.4613 0.6009 0.1551 0.4939 0.45 0.44 0.56 0.16 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633845 NA NA NA NA NA 0.428 NA 3.5417 1298 3 42754912 42754912 A G intronic CCDC13 NA NA NA intronic ENSG00000244607 NA NA NA NA NA 3p22.1 NA NA NA NA rs3895740 0.5 0.5 0.489 0.525359 0.4583 0.4653 0.4092 0.6233 0.6063 0.46 0.49 0.47 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615298 NA NA NA NA NA 0.514 NA 3.5417 1298 4 187561080 187561080 A G intronic FAT1 NA NA NA intronic ENSG00000083857 NA NA NA NA NA 4q35.2 NA NA NA NA rs10001377 0.49 0.49 0.452 0.446885 0.4583 0.6042 0.5317 0.3585 0.3323 0.45 0.63 0.52 0.38 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48539 NA NA NA NA NA 0.399 NA 3.5417 1298 5 70807991 70807991 G A intronic BDP1 NA NA NA intronic ENSG00000145734 NA NA NA NA NA 5q13.2 NA NA NA NA rs418738 0.4 0.4 0.383 0.399561 0.4583 0.3621 0.3055 0.3797 0.4714 0.46 0.38 0.33 0.37 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297186 NA NA NA NA NA 0.377 NA 3.5417 1298 5 82499307 82499307 G A intronic XRCC4 NA NA NA intronic ENSG00000152422 NA NA NA NA NA 5q14.2 NA NA NA NA rs2662238 0.33 0.33 0.311 0.358427 0.4583 0.2183 0.2579 0.2905 0.5634 0.46 0.23 0.28 0.29 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346832 NA NA NA NA NA 0.348 NA 3.5417 1298 7 101977945 101977945 C T intergenic SH2B2,SPDYE6 dist=15767;dist=8247 NA NA ncRNA_intronic ENSG00000228546 NA NA NA NA NA 7q22.1 NA NA NA NA rs803118 0.53 0.53 0.49 0.541733 0.4583 0.5764 0.4986 0.6581 0.4652 0.45 0.56 0.49 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820004 NA NA NA NA NA 0.232 NA 3.5417 1298 7 150915533 150915533 C T intronic ABCF2 NA NA NA intronic ENSG00000033050 NA NA NA NA NA 7q36.1 NA NA NA NA rs3800793 0.46 0.46 0.411 0.420327 0.4583 0.7202 0.4107 0.211 0.362 0.45 0.68 0.43 0.23 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000894 NA NA NA NA NA 0.435 NA 3.5417 1298 10 95658258 95658258 C G intronic SLC35G1 NA NA NA intronic ENSG00000176273 NA NA NA NA NA 10q23.33 NA NA NA NA rs11187724 0.56 0.56 0.517 0.53115 0.4583 0.8611 0.5043 0.3033 0.593 0.49 0.87 0.52 0.33 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33889 NA NA NA NA NA 0.449 NA 3.5417 1298 12 120567406 120567406 C A intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs2240312 0.35 0.35 0.335 0.366414 0.4583 0.3998 0.4236 0.0794 0.5849 0.46 0.38 0.41 0.1 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765013 NA NA NA NA NA 0.268 NA 3.5417 1298 15 20467908 20467908 G A intergenic NONE,CHEK2P2 dist=NONE;dist=20089 NA NA ncRNA_intronic ENSG00000258628 NA NA NA NA NA 15q11.1 NA NA NA NA rs2722118 NA NA 0.309 0.445887 0.4583 0.4474 0.4438 0.4244 0.4622 NA NA NA NA NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854622 NA NA NA NA NA 0.37 NA 3.5417 1298 18 10485363 10485363 T C intronic APCDD1 NA NA NA intronic ENSG00000154856 NA NA NA NA NA 18p11.22 NA NA NA NA rs91958 0.57 0.57 0.551 0.5623 0.4583 0.6419 0.5476 0.6815 0.4366 0.47 0.66 0.54 0.65 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302185 NA NA NA NA NA 0.587 NA 3.5417 1298 18 10485369 10485369 G A intronic APCDD1 NA NA NA intronic ENSG00000154856 NA NA NA NA NA 18p11.22 NA NA NA NA rs91959 0.57 0.57 0.559 0.5625 0.4583 0.6419 0.549 0.6815 0.4366 0.47 0.66 0.54 0.65 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687513 NA NA NA NA NA 0.587 NA 3.5417 1298 21 37604976 37604976 G A intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA NA NA rs2239570 0.34 0.34 0.329 0.348043 0.4583 0.4306 0.3487 0.0681 0.5276 0.45 0.42 0.36 0.07 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786595 NA NA NA NA NA 0.413 NA 3.5417 1298 19 4684642 4684642 A G UTR3 LOC100131094 NM_001242901:c.*786A>G NA NA ncRNA_exonic ENSG00000205790 NA NA NA NA NA 19p13.3 NA NA NA NA rs8105807 0.39 0.39 0.413 0.442492 0.325 0.2321 0.3213 0.7821 0.407 0.32 0.24 0.29 0.74 0.3465 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687926 NA NA 0.287183 0.67407 NA 0.543 NA 3.541317 1298 6 160557569 160557569 C T intronic SLC22A1 NA NA NA intronic ENSG00000175003 NA NA NA NA NA 6q25.3 NA NA NA NA rs7762846 0.1 0.1 0.09 0.095647 0.1531 0.003 0.1081 0.1059 0.1094 0.15 0.0017 0.13 0.11 0.1356 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05122 NA NA 0.17 0.110985 NA 0.123 NA 3.5413 1298 12 96284650 96284650 A G exonic CCDC38 NA synonymous SNV CCDC38:NM_182496:exon9:c.T831C:p.A277A exonic ENSG00000165972 NA synonymous SNV ENSG00000165972:ENST00000344280:exon9:c.T831C:p.A277A NA NA 12q23.1 NA NA NA NA rs6538681 0.74 0.74 0.742 0.754393 0.7058 0.745 0.536 0.9145 0.7526 0.73 0.72 0.57 0.91 0.7179 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050229 NA NA 0.70186 0.879256 NA 0.703 NA 3.5411066 1298 6 30670292 30670292 C T intronic MDC1 NA NA NA intronic ENSG00000137337 NA NA NA NA NA 6p21.33 NA NA NA NA rs9405048 0.16 0.16 0.128 0.133786 0.1421 0.2996 0.2104 0.0106 0.0665 0.14 0.27 0.2 0.01 0.1709 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.002386 4.002386 NA 0.145995 0.031478 NA 0.116 NA 3.541005 1298 19 49148781 49148781 C T ncRNA_intronic SEC1P NA NA NA ncRNA_intronic ENSG00000232871 NA NA NA NA NA 19q13.33 NA NA Name=6 NA rs10426317 0.47 0.47 0.451 0.421526 0.7346 0.2569 0.4265 0.2103 0.5511 0.74 0.3 0.49 0.25 0.6471 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386258 NA NA 0.744067 0.285974 NA 0.449 NA 3.5408996 1298 3 42793337 42793337 T C intronic CCDC13 NA NA NA intronic ENSG00000244607 NA NA NA NA NA 3p22.1 NA NA NA NA rs11929390 0.48 0.48 0.481 0.500599 0.4592 0.4514 0.4006 0.5431 0.6074 0.46 0.47 0.46 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252105 NA NA NA NA NA 0.493 NA 3.5408 1298 5 1060379 1060379 G A intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs35661060 0.35 0.35 0.335 0.339058 0.4592 0.3512 0.402 0.1203 0.454 0.48 0.33 0.4 0.12 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830739 NA NA NA NA NA 0.275 NA 3.5408 1298 8 21835465 21835465 A G intronic XPO7 NA NA NA intronic ENSG00000130227 NA NA NA NA NA 8p21.3 NA NA NA NA rs733543 0.35 0.35 0.341 0.294928 0.4592 0.3998 0.2118 0.2201 0.1779 0.46 0.38 0.24 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.635844 NA NA NA NA NA 0.442 NA 3.5408 1298 17 18863105 18863105 C T intronic SLC5A10 NA NA NA intronic ENSG00000154025 NA NA NA NA NA 17p11.2 NA NA NA NA rs2074276 0.42 0.42 0.401 0.378594 0.4592 0.5218 0.4438 0.2519 0.273 0.43 0.48 0.49 0.28 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341596 NA NA NA NA NA 0.435 NA 3.5408 1298 18 10485357 10485357 T C intronic APCDD1 NA NA NA intronic ENSG00000154856 NA NA NA NA NA 18p11.22 NA NA NA NA rs489837 0.58 0.58 0.564 0.571685 0.4592 0.6419 0.5519 0.7141 0.4366 0.47 0.66 0.54 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374888 NA NA NA NA NA 0.587 NA 3.5408 1298 18 21120035 21120035 T C intronic NPC1 NA NA NA intronic ENSG00000141458 NA NA NA NA NA 18q11.2 NA NA NA NA rs7239575 0.59 0.59 0.557 0.586661 0.4592 0.6111 0.6297 0.73 0.4683 0.47 0.64 0.58 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285113 NA NA NA NA NA 0.638 NA 3.5408 1298 19 55346629 55346629 C T intronic KIR2DS4 NA NA NA intronic ENSG00000167633,ENSG00000221957 NA NA NA NA NA 19q13.42 NA NA NA NA rs139958085 0.1 0.1 0.099 0.106629 0.2455 0.0119 0.1441 0.0946 0.0511 0.21 0.01 0.12 0.05 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687703 NA NA 0.213731 0.127753 NA 0.094 NA 3.540769 1298 7 51094216 51094216 C T intronic COBL NA NA NA intronic ENSG00000106078 NA NA NA NA NA 7p12.1 NA NA NA NA rs2285841 0.22 0.22 0.22 0.249601 0.1481 0.1131 0.2536 0.4433 0.2301 0.14 0.1 0.23 0.48 0.1858 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49409 NA NA 0.125465 0.406037 ID=COSN168056;OCCURENCE=1(large_intestine) 0.319 NA 3.540635 1298 6 154567676 154567676 G A intronic IPCEF1,OPRM1 NA NA NA intronic ENSG00000074706,ENSG00000112038 NA NA NA NA NA 6q25.2 NA NA NA NA rs7759388 0.1 0.1 0.096 0.0842652 0.166 NA 0.1124 0.09 0.0593 0.16 NA 0.13 0.09 0.1332 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408029 NA NA 0.160698 0.1069 NA 0.101 NA 3.540102 1298 2 39944055 39944055 G A intronic TMEM178A NA NA NA intronic ENSG00000152154 NA NA NA NA NA 2p22.1 NA NA NA NA rs2540229 0.67 0.67 0.673 0.682708 0.4602 0.8115 0.6571 0.8185 0.6135 0.49 0.82 0.63 0.8 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352857 NA NA NA NA NA 0.565 NA 3.5398 1298 4 169392803 169392803 T C intronic DDX60L NA NA NA intronic ENSG00000181381 NA NA NA NA NA 4q32.3 NA NA NA NA rs7670367 0.39 0.39 0.382 0.408347 0.4602 0.2808 0.2709 0.444 0.5358 0.47 0.26 0.3 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039834 NA NA NA NA NA 0.442 NA 3.5398 1298 5 82407098 82407098 G A intronic XRCC4 NA NA NA intronic ENSG00000152422 NA NA NA NA NA 5q14.2 NA NA NA NA rs1478482 0.4 0.4 0.414 0.461062 0.4602 0.1974 0.2839 0.6876 0.5532 0.45 0.19 0.32 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702239 NA NA NA NA NA 0.442 NA 3.5398 1298 7 803342 803342 G A intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA NA NA NA rs4495324 0.42 0.42 0.396 0.396166 0.4602 0.3532 0.4424 0.3533 0.3998 0.44 0.36 0.44 0.43 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128415 NA NA NA NA NA 0.362 NA 3.5398 1298 12 48376503 48376503 C T intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs3829736 0.45 0.45 0.413 0.455671 0.4602 0.5536 0.3631 0.3941 0.499 0.46 0.57 0.37 0.36 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389267 NA NA NA NA NA 0.428 NA 3.5398 1298 12 48376530 48376530 C A intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs11168337 0.48 0.48 0.433 0.501597 0.4602 0.5694 0.3718 0.466 0.6145 0.46 0.59 0.38 0.45 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161052 NA NA NA NA NA 0.464 NA 3.5398 1298 14 81307218 81307218 T G intronic CEP128 NA NA NA intronic ENSG00000100629 NA NA NA NA NA 14q31.1 NA NA NA NA rs7142753 0.38 0.38 0.347 0.358427 0.4602 0.37 0.389 0.2655 0.3456 0.46 0.34 0.43 0.26 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009464 NA NA NA NA NA 0.312 NA 3.5398 1298 17 9821249 9821249 C T intronic GAS7 NA NA NA intronic ENSG00000007237 NA NA NA NA NA 17p13.1 NA NA NA NA rs11078822 0.37 0.37 0.33 0.33726 0.4602 0.4435 0.4467 0.0666 0.3896 0.47 0.45 0.44 0.07 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683564 NA NA NA NA NA 0.312 NA 3.5398 1298 17 78061979 78061979 A C intronic CCDC40 NA NA NA intronic ENSG00000141519 NA NA NA NA NA 17q25.3 NA NA NA NA rs12942049 0.3 0.3 0.286 0.309505 0.4602 0.2222 0.3761 0.1157 0.4591 0.47 0.19 0.37 0.14 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816161 NA NA NA NA NA 0.333 NA 3.5398 1298 18 34273440 34273440 C T intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs483351 0.51 0.51 0.514 0.476238 0.4602 0.6488 0.402 0.4206 0.4427 0.48 0.64 0.43 0.44 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762927 NA NA NA NA NA 0.348 NA 3.5398 1298 3 125650439 125650439 T C intronic ALG1L NA NA NA intronic ENSG00000189366 NA NA NA NA NA 3q21.2 NA NA NA NA rs35696724 0.14 0.14 0.104 0.144369 0.168 0.1379 0.1124 0.1505 0.1411 0.16 0.11 0.14 0.14 0.1374 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847033 NA NA 0.154844 0.123348 NA 0.065 NA 3.539756 1298 19 46350960 46350960 A G intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs3745928 0.14 0.14 0.132 0.144569 0.1571 0.0913 0.2349 0.1082 0.1718 0.16 0.08 0.21 0.12 0.1561 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652886 NA NA 0.147093 0.107581 NA 0.072 NA 3.539707 1298 11 2016659 2016659 T C ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA NA NA NA rs2839704 0.31 0.31 0.285 0.26877 0.3976 0.3343 0.3617 0.0794 0.2587 0.42 0.33 0.35 0.1 0.3381 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.452288 NA NA 0.391654 0.120571 NA 0.304 NA 3.5393126 1298 5 145483713 145483713 C T intronic PLAC8L1 NA NA NA ncRNA_intronic ENSG00000251556 NA NA NA NA NA 5q32 NA NA NA NA rs12187128 0.2 0.2 0.156 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2633 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.204366 NA NA 0.278256 0.059918 ID=COSN167581;OCCURENCE=1(large_intestine) 0.261 NA 3.5392773 1298 3 108324365 108324365 C T intronic DZIP3 NA NA NA intronic ENSG00000198919 NA NA NA NA NA 3q13.13 NA NA NA NA rs41267019 0.28 0.28 0.283 0.307907 0.2197 0.4554 0.3012 0.2413 0.3415 0.22 0.39 0.29 0.22 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239371 NA NA 0.241043 0.251445 NA 0.225 NA 3.539257 1298 1 1635619 1635619 T C intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA Name=ERalpha_a NA NA rs2076329 0.62 0.62 0.611 0.646965 0.5924 0.4673 0.5591 0.9395 0.5552 0.58 0.45 0.56 0.92 0.6106 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287422 NA NA 0.591152 0.89553 NA 0.457 NA 3.5391813 1298 1 118617274 118617274 C T intronic SPAG17 NA NA NA intronic ENSG00000155761 NA NA NA NA NA 1p12 NA NA Name=2 NA rs1935993 0.42 0.42 0.408 0.428315 0.4881 0.1696 0.4625 0.6006 0.3763 0.49 0.14 0.49 0.59 0.4667 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.647716 1.647716 NA 0.506164 0.595778 NA 0.623 NA 3.539036 1298 1 47767141 47767141 C A intronic STIL NA NA NA intronic ENSG00000123473 NA NA NA NA NA 1p33 NA NA NA NA rs6689687 0.61 0.61 0.617 0.613618 0.4612 0.5843 0.5965 0.8858 0.4448 0.47 0.6 0.57 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119643 NA NA NA NA NA 0.594 NA 3.5388 1298 7 101967698 101967698 C A intergenic SH2B2,SPDYE6 dist=5520;dist=18494 NA NA ncRNA_exonic ENSG00000170409 NA NA NA NA NA 7q22.1 NA NA NA NA rs803103 0.49 0.49 0.511 0.565895 0.4612 0.5794 0.5086 0.7375 0.4683 0.41 0.53 0.47 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351394 NA NA NA NA NA 0.536 NA 3.5388 1298 11 2016662 2016662 T C ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA NA NA NA rs2839703 0.31 0.31 0.274 0.26897 0.3986 0.3343 0.3617 0.0794 0.2587 0.42 0.32 0.35 0.1 0.3378 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090334 NA NA 0.391654 0.120571 NA 0.297 NA 3.5386126 1298 15 25324141 25324141 C T upstream SNORD116-13 NA NA NA ncRNA_exonic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs4344720 0.64 0.64 0.661 0.616014 0.6282 0.5536 0.6643 0.7859 0.4039 0.63 0.55 0.68 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489522 NA NA NA NA NA 0.659 NA 3.5384666 1298 15 45457106 45457106 G T UTR3 DUOX1 NM_017434:c.*7G>T,NM_175940:c.*7G>T NA NA ncRNA_UTR3 ENSG00000137857 NA NA NA NA NA 15q21.1 NA NA NA NA rs12438755 0.28 0.28 0.258 0.258786 0.333 0.3323 0.4135 0.0976 0.2147 0.33 0.3 0.35 0.11 0.3094 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.001702 5.001702 NA 0.319218 0.124204 NA 0.239 NA 3.538382 1298 6 32362832 32362832 G A intronic BTNL2 NA NA NA intronic ENSG00000204290 NA NA NA NA NA 6p21.32 NA NA NA NA rs17202435 0.16 0.16 0.146 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 0.1554 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439559 NA NA 0.143488 0.12483 NA 0.196 NA 3.538112 1298 1 57170229 57170229 T C intronic PRKAA2 NA NA NA intronic ENSG00000162409 NA NA NA NA NA 1p32.2 NA NA NA NA rs932447 0.33 0.33 0.338 0.291134 0.4622 0.1577 0.2839 0.329 0.2065 0.45 0.18 0.32 0.34 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207292 NA NA NA NA NA 0.37 NA 3.5378 1298 3 64617070 64617070 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs6445420 0.73 0.73 0.741 0.757588 0.4622 0.9325 0.7089 0.9675 0.6319 0.45 0.94 0.69 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.884307 NA NA NA NA NA 0.775 NA 3.5378 1298 6 32974843 32974843 C T intronic HLA-DOA NA NA NA intronic ENSG00000204252 NA NA NA NA NA 6p21.32 NA NA NA NA rs6913008 0.14 0.14 0.118 0.150559 0.16 0.1895 0.1844 0.0908 0.1575 0.16 0.16 0.15 0.08 0.1488 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135314 NA NA 0.153551 0.103456 NA 0.087 NA 3.537649 1298 7 98602990 98602990 G C intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs219838 0.33 0.33 0.345 0.326478 0.1421 0.2133 0.2363 0.7753 0.09 0.14 0.24 0.26 0.77 0.1913 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06322 NA NA 0.129186 0.665002 NA 0.333 NA 3.537414 1298 4 8229713 8229713 A G exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.A2292G:p.Q764Q exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.A2292G:p.Q764Q,ENSG00000125089:ENST00000539824:exon12:c.A2064G:p.Q688Q NA NA 4p16.1 NA NA NA NA rs1281148 0.53 0.53 0.518 0.516573 0.7177 0.5139 0.5202 0.2421 0.681 0.72 0.48 0.59 0.26 0.6508 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.395815 NA NA 0.76088 0.329927 NA 0.652 NA 3.5372866 1298 7 101917647 101917647 A G intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA Name=ZNF263 NA NA rs712839 0.73 0.73 0.769 0.734225 0.7227 0.5228 0.6599 0.9788 0.6861 0.75 0.52 0.72 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447281 NA NA 0.740101 0.937139 NA 0.761 NA 3.537199 1298 3 196455682 196455682 G A intronic PIGX NA NA NA intronic ENSG00000163964 NA NA NA NA NA 3q29 NA NA NA NA rs71323744 0.13 0.13 0.128 0.129992 0.2276 0.001 0.1585 0.1248 0.1493 0.21 NA 0.2 0.12 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581431 NA NA 0.235387 0.164017 NA 0.13 NA 3.537013 1298 2 10912153 10912153 T G intronic ATP6V1C2 NA NA NA intronic ENSG00000143882 NA NA NA NA NA 2p25.1 NA NA NA NA rs2171773 0.39 0.39 0.383 0.363219 0.4632 0.3304 0.4179 0.3253 0.3067 0.46 0.37 0.41 0.31 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086174 NA NA NA NA NA 0.442 NA 3.5368 1298 6 36290030 36290030 C G intronic C6orf222 NA NA NA intronic ENSG00000189325 NA NA NA NA NA 6p21.31 NA NA NA NA rs12190546 0.3 0.3 0.294 0.287939 0.4632 0.1508 0.2983 0.2458 0.2986 0.46 0.12 0.3 0.25 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32937 NA NA NA NA NA 0.391 NA 3.5368 1298 6 168688281 168688281 T G intergenic FRMD1,DACT2 dist=208442;dist=19303 NA NA ncRNA_exonic ENSG00000230711 NA NA NA NA NA 6q27 NA NA NA NA rs9456019 0.29 0.29 0.247 0.252995 0.4632 0.2083 0.3516 0.0272 0.318 0.46 0.22 0.35 0.04 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143059 NA NA NA NA NA 0.203 NA 3.5368 1298 9 141038018 141038018 G A intergenic CACNA1B,TUBBP5 dist=18942;dist=6547 NA NA ncRNA_exonic ENSG00000229926 NA NA NA NA NA 9q34.3 NA NA NA NA rs60011774 0.38 0.38 0.354 0.396565 0.4632 0.3224 0.5735 0.32 0.3824 0.45 0.27 0.5 0.32 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140123 NA NA NA NA NA 0.304 NA 3.5368 1298 15 31359457 31359457 T G intronic TRPM1 NA NA NA intronic ENSG00000134160 NA NA NA NA NA 15q13.3 NA NA NA NA rs3784599 0.54 0.54 0.503 0.504193 0.4632 0.8006 0.5274 0.3313 0.4581 0.46 0.84 0.52 0.32 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40087 NA NA NA NA NA 0.507 NA 3.5368 1298 15 62228696 62228696 G C intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs11071641 0.44 0.44 0.441 0.444888 0.4632 0.4653 0.3285 0.466 0.4591 0.46 0.45 0.35 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270372 NA NA NA NA NA 0.507 NA 3.5368 1298 1 76313874 76313874 C T intronic MSH4 NA NA NA intronic ENSG00000057468 NA NA NA NA NA 1p31.1 NA NA NA NA rs2047435 0.26 0.26 0.231 0.233027 0.1402 0.2698 0.3372 0.3207 0.0982 0.14 0.34 0.3 0.31 0.1866 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.177064 2.177064 NA 0.13648 0.282115 NA 0.116 NA 3.53672 1298 10 60273121 60273121 T C intronic BICC1 NA NA NA intronic ENSG00000122870 NA NA NA NA NA 10q21.1 NA NA Name=36 NA rs7100474 0.5 0.5 0.514 0.519169 0.497 0.4762 0.3285 0.6316 0.5695 0.49 0.48 0.36 0.65 0.492 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758215 NA NA 0.474302 0.593509 NA 0.435 NA 3.536698 1298 17 30321567 30321567 T G intronic SUZ12 NA NA NA intronic ENSG00000178691 NA NA NA NA NA 17q11.2 NA NA NA NA rs1557731 0.14 0.14 0.129 0.162141 0.1531 0.001 0.1081 0.3238 0.1575 0.15 NA 0.12 0.3 0.1643 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650795 NA NA 0.146047 0.274626 NA 0.217 NA 3.536553 1298 2 231115790 231115790 G A intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs9989746 0.1 0.1 0.085 0.086262 0.1521 0.001 0.1066 0.0514 0.1391 0.16 NA 0.13 0.08 0.1376 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121825 NA NA 0.174055 0.066278 NA 0.094 NA 3.536245 1298 6 160553238 160553238 C T intronic SLC22A1 NA NA NA intronic ENSG00000175003 NA NA NA NA NA 6q25.3 NA NA NA NA rs45584532 0.1 0.1 0.097 0.0982428 0.1531 0.003 0.1095 0.1127 0.1125 0.15 0.0017 0.14 0.11 0.1405 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159864 NA NA 0.170233 0.11734 NA 0.123 NA 3.536167 1298 17 18923818 18923818 G A UTR3 SLC5A10 NM_001042450:c.*74G>A,NM_152351:c.*74G>A,NM_001270648:c.*74G>A,NM_001270649:c.*74G>A NA NA UTR3 ENSG00000154025 ENST00000317977:c.*74G>A,ENST00000395642:c.*74G>A,ENST00000395647:c.*74G>A,ENST00000417251:c.*74G>A,ENST00000395645:c.*74G>A,ENST00000395643:c.*74G>A NA NA NA NA 17p11.2 NA NA NA NA rs1624825 0.38 0.38 0.326 0.285543 0.7972 0.003 0.4841 0.0333 0.2505 0.79 NA 0.57 0.04 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.402155 NA NA NA NA NA 0.348 NA 3.5361334 1298 7 5944687 5944687 C A intronic CCZ1 NA NA NA intronic ENSG00000122674 NA NA NA NA NA 7p22.1 NA NA NA NA rs62453583 0.1 0.1 0.069 0.0932508 0.1451 0.0317 0.1571 0.0371 0.1339 0.13 0.03 0.18 0.06 0.1476 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.594551 1.594551 NA 0.171169 0.059677 NA 0.007 NA 3.536131 1298 1 156287403 156287403 T C intronic CCT3 NA NA NA intronic ENSG00000163468 NA NA NA NA NA 1q22 NA NA NA NA rs2296374 0.44 0.44 0.386 0.455471 0.4642 0.4702 0.6427 0.2882 0.5245 0.46 0.46 0.6 0.28 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106166 NA NA NA NA NA 0.377 NA 3.5358 1298 3 48462461 48462461 A G intronic PLXNB1 NA NA NA intronic ENSG00000164050 NA NA NA NA NA 3p21.31 NA NA NA NA rs11130171 0.38 0.38 0.377 0.38119 0.4642 0.3135 0.3112 0.4599 0.3088 0.45 0.29 0.33 0.42 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112612 NA NA NA NA NA 0.464 NA 3.5358 1298 3 53260716 53260716 C T intronic TKT NA NA NA intronic ENSG00000163931 NA NA NA NA NA 3p21.1 NA NA NA NA rs2279322 0.43 0.43 0.419 0.436502 0.4642 0.6032 0.4207 0.2133 0.5491 0.46 0.59 0.4 0.22 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932574 NA NA NA NA NA 0.457 NA 3.5358 1298 19 16025312 16025312 T G intronic CYP4F11 NA NA NA intronic ENSG00000171903 NA NA NA NA NA 19p13.12 NA NA NA NA rs12985248 0.36 0.36 0.312 0.292732 0.4642 0.2232 0.3775 0.2126 0.2362 0.49 0.24 0.35 0.29 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.569863 NA NA NA NA NA 0.42 NA 3.5358 1298 21 38517058 38517058 C T intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs764175 0.57 0.57 0.547 0.593251 0.4642 0.6032 0.6282 0.6498 0.6145 0.46 0.62 0.6 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470217 NA NA NA NA NA 0.667 NA 3.5358 1298 21 38567902 38567902 C T intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835659 0.57 0.57 0.549 0.592053 0.4642 0.6032 0.6282 0.6445 0.6155 0.46 0.62 0.6 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282063 NA NA NA NA NA 0.659 NA 3.5358 1298 21 38567911 38567911 T C intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs7280251 0.57 0.57 0.545 0.59345 0.4642 0.6032 0.6282 0.6498 0.6155 0.46 0.62 0.6 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410927 NA NA NA NA NA 0.659 NA 3.5358 1298 19 41765407 41765407 A C intronic AXL NA NA NA intronic ENSG00000167601 NA NA NA NA NA 19q13.2 NA NA NA NA rs4591267 0.18 0.18 0.156 0.152157 0.174 0.2778 0.1326 0.1006 0.0838 0.16 0.27 0.16 0.1 0.1429 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207106 NA NA 0.147394 0.108765 NA 0.138 NA 3.535706 1298 1 112234084 112234084 G T intronic RAP1A NA NA NA intronic ENSG00000116473 NA NA NA NA NA 1p13.2 NA NA NA NA rs10489469 0.12 0.12 0.096 0.11861 0.1501 0.1825 0.1297 0.0053 0.1656 0.16 0.14 0.16 0.01 0.1541 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841774 NA NA 0.160465 0.033591 NA 0.08 NA 3.535335 1299 1 152944156 152944156 C T intronic SPRR4 NA NA NA intronic ENSG00000184148 NA NA NA NA NA 1q21.3 NA NA NA NA rs6671520 0.24 0.24 0.236 0.20028 0.4652 0.1161 0.2363 0.0159 0.2382 0.47 0.13 0.27 0.02 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170378 NA NA NA NA NA 0.181 NA 3.5348 1299 1 160165451 160165451 C T intronic CASQ1 NA NA NA intronic ENSG00000143318 NA NA NA NA NA 1q23.2 NA NA NA NA rs10908769 0.37 0.37 0.437 0.350639 0.4652 0.2927 0.4265 0.2383 0.3906 0.47 0.3 0.44 0.23 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853873 NA NA NA NA NA 0.377 NA 3.5348 1299 2 71185391 71185391 A C intronic ATP6V1B1 NA NA NA intronic ENSG00000116039,ENSG00000258881 NA NA NA NA NA 2p13.3 NA NA NA NA rs967063 0.45 0.45 0.43 0.465455 0.4652 0.6915 0.4971 0.205 0.5624 0.46 0.66 0.5 0.17 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301792 NA NA NA NA NA 0.486 NA 3.5348 1299 3 133475563 133475563 G T intronic TF NA NA NA intronic ENSG00000091513 NA NA NA NA NA 3q22.1 NA NA NA NA rs4241357 0.58 0.58 0.573 0.63119 0.4652 0.7212 0.5692 0.6543 0.7219 0.46 0.73 0.53 0.64 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534297 NA NA NA NA NA 0.471 NA 3.5348 1299 3 179439466 179439466 T C intronic USP13 NA NA NA intronic ENSG00000058056 NA NA NA NA NA 3q26.33 NA NA NA NA rs2119898 0.37 0.37 0.326 0.330671 0.4652 0.4474 0.3977 0.0408 0.4162 0.46 0.46 0.45 0.07 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300991 NA NA NA NA NA 0.304 NA 3.5348 1299 7 133984432 133984432 C T intronic SLC35B4 NA NA NA intronic ENSG00000205060 NA NA NA NA NA 7q33 NA NA NA NA rs2075372 0.47 0.47 0.453 0.495407 0.4652 0.2708 0.5821 0.6044 0.5491 0.48 0.27 0.55 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230288 NA NA NA NA NA 0.435 NA 3.5348 1299 9 123758425 123758425 T C intronic C5 NA NA NA intronic ENSG00000106804 NA NA NA NA NA 9q33.2 NA NA NA NA rs10760134 0.41 0.41 0.374 0.409944 0.4652 0.5694 0.5014 0.0416 0.6217 0.48 0.58 0.5 0.05 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.259841 1.259841 NA NA NA NA 0.312 NA 3.5348 1299 10 50870500 50870500 G A intronic CHAT NA NA NA intronic ENSG00000070748 NA NA NA NA NA 10q11.23 NA NA NA NA rs11101200 0.35 0.35 0.346 0.325679 0.4652 0.1012 0.3818 0.3941 0.2812 0.48 0.12 0.38 0.37 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.47054 NA NA NA NA NA 0.326 NA 3.5348 1299 12 52941894 52941894 C T intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs3803083 0.12 0.12 0.125 0.123403 0.161 0.1706 0.0562 0.0136 0.2321 0.17 0.18 0.06 0.01 0.1535 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730411 NA NA 0.15093 0.040626 NA 0.036 NA 3.53457 1299 3 20181676 20181676 T C intronic KAT2B NA NA NA intronic ENSG00000114166 NA NA NA NA NA 3p24.3 NA NA NA NA rs3762633 0.34 0.34 0.366 0.423522 0.1223 0.5784 0.1902 0.5961 0.5061 0.11 0.59 0.14 0.54 0.2404 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428207 NA NA 0.10328 0.515207 NA 0.297 NA 3.53402 1299 2 219609776 219609776 G A intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA NA NA NA rs2272191 0.42 0.42 0.44 0.405551 0.4662 0.1409 0.4222 0.6082 0.3303 0.46 0.16 0.42 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127902 NA NA NA NA NA 0.529 NA 3.5338 1299 10 128829 128829 A G intergenic TUBB8,ZMYND11 dist=33651;dist=51576 NA NA ncRNA_intronic ENSG00000232420 NA NA NA NA NA 10p15.3 NA NA NA NA rs2928100 0.44 0.44 0.413 0.434904 0.4662 0.2321 0.4841 0.6301 0.3129 0.45 0.21 0.48 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699224 NA NA NA NA NA 0.348 NA 3.5338 1299 14 81448282 81448282 C G intronic TSHR NA NA NA intronic ENSG00000165409 NA NA NA NA NA 14q31.1 NA NA NA NA rs3783950 0.53 0.53 0.521 0.515775 0.4662 0.5982 0.5562 0.4576 0.5317 0.46 0.62 0.54 0.52 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062487 NA NA NA NA NA 0.522 NA 3.5338 1299 16 30095236 30095236 C T intronic PPP4C NA NA NA intronic ENSG00000149923 NA NA NA NA NA 16p11.2 NA NA NA NA rs11644459 0.46 0.46 0.458 0.473842 0.4662 0.3661 0.3948 0.5968 0.4826 0.46 0.36 0.43 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.375524 1.375524 NA NA NA NA 0.457 NA 3.5338 1299 16 84473192 84473192 A G intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs931077 0.52 0.52 0.493 0.541534 0.4662 0.6141 0.5778 0.4955 0.5808 0.47 0.59 0.55 0.47 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022657 NA NA NA NA NA 0.522 NA 3.5338 1299 17 26075070 26075070 G A intergenic LGALS9,NOS2 dist=98484;dist=8722 NA NA ncRNA_intronic ENSG00000266786 NA NA NA NA NA 17q11.2 NA NA NA NA rs4796018 0.57 0.57 0.576 0.578674 0.4662 0.4673 0.5735 0.8079 0.5031 0.46 0.48 0.58 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657022 NA NA NA NA NA 0.71 NA 3.5338 1299 17 48652833 48652833 C T intronic CACNA1G NA NA NA intronic ENSG00000006283 NA NA NA NA NA 17q21.33 NA NA NA NA rs16949166 0.59 0.59 0.598 0.60603 0.4662 0.9167 0.585 0.438 0.6718 0.47 0.93 0.53 0.43 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56653 NA NA NA NA NA 0.449 NA 3.5338 1299 20 5282619 5282619 A T downstream PROKR2 NA NA NA UTR3 ENSG00000101292 ENST00000546004:c.*67T>A NA NA NA NA 20p12.3 NA NA NA NA rs3746681 0.41 0.41 0.399 0.423522 0.4662 0.4296 0.3602 0.3608 0.5031 0.47 0.38 0.4 0.37 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.850601 1.850601 NA NA NA ID=COSN166474;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.297 NA 3.5338 1299 4 8230070 8230070 T C exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.T2649C:p.A883A exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.T2649C:p.A883A,ENSG00000125089:ENST00000539824:exon12:c.T2421C:p.A807A NA NA 4p16.1 NA NA NA NA rs1281150 0.55 0.55 0.509 0.534145 0.7177 0.5159 0.5259 0.3033 0.682 0.72 0.49 0.59 0.34 0.6551 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.107355 NA NA 0.760126 0.373581 NA 0.696 NA 3.5337406 1299 15 91428636 91428636 G A intronic FES NA NA NA exonic ENSG00000182511 NA nonsynonymous SNV ENSG00000182511:ENST00000470152:exon2:c.G361A:p.V121I NA NA 15q26.1 NA NA NA NA rs7177338 0.59 0.59 0.57 0.587859 0.5239 0.8006 0.6369 0.4349 0.6063 0.51 0.82 0.64 0.41 0.5809 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837595 NA NA 0.528192 0.468352 NA 0.478 NA 3.5336747 1299 6 154542491 154542491 A G intronic IPCEF1,OPRM1 NA NA NA intronic ENSG00000074706,ENSG00000112038 NA NA NA NA NA 6q25.2 NA NA NA NA rs2272381 0.19 0.19 0.193 0.197484 0.165 0.2123 0.1182 0.2262 0.2331 0.16 0.23 0.14 0.22 0.1642 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.186954 2.186954 NA 0.137209 0.21448 NA 0.181 NA 3.533591 1299 22 30891859 30891859 A G intronic SEC14L4 NA NA NA intronic ENSG00000133488 NA NA NA NA NA 22q12.2 NA NA NA NA rs9608944 0.16 0.16 0.144 0.161142 0.2336 0.0407 0.2853 0.1513 0.136 0.23 0.04 0.23 0.16 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.013034 NA NA 0.232872 0.176301 NA 0.08 NA 3.533528 1299 11 117261488 117261488 C G intronic CEP164 NA NA NA intronic ENSG00000110274 NA NA NA NA NA 11q23.3 NA NA NA NA rs897837 0.1 0.1 0.082 0.11222 0.1392 0.0992 0.1988 0.0076 0.1779 0.13 0.1 0.18 0.01 0.163 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141628 NA NA 0.164688 0.038392 NA 0.065 NA 3.533112 1299 14 106235966 106235966 T C intergenic ELK2AP,KIAA0125 dist=96822;dist=147872 NA NA intronic ENSG00000211897 NA NA NA NA NA 14q32.33 NA NA NA NA rs145579382 0.02 0.02 0.016 0.0203674 0.0497 NA 0.0317 0.0015 0.0286 0.04 NA 0.02 0.002 0.0363 0.048 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709952 NA NA 0.047665 0.005932 NA 0.014 NA 3.5330017 1299 1 3422144 3422144 G C intronic MEGF6 NA NA NA intronic ENSG00000162591 NA NA NA NA NA 1p36.32 NA NA NA NA rs2105305 0.14 0.14 0.101 0.14976 0.1382 0.2321 0.1931 0.0651 0.1605 0.13 0.2 0.18 0.05 0.1977 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.955609 NA NA 0.131212 0.073227 NA 0.13 NA 3.532888 1299 2 219618237 219618237 A C intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA NA NA NA rs6436073 0.44 0.44 0.448 0.447684 0.4672 0.1409 0.428 0.7648 0.3292 0.47 0.16 0.42 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341261 NA NA NA NA NA 0.572 NA 3.5328 1299 2 219618497 219618497 T G intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA NA NA NA rs6757772 0.42 0.42 0.425 0.403554 0.4672 0.1409 0.4222 0.6006 0.3292 0.47 0.16 0.42 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292519 NA NA NA NA NA 0.522 NA 3.5328 1299 3 155027416 155027416 T C intergenic LOC100507537,PLCH1 dist=15927;dist=170255 NA NA ncRNA_exonic ENSG00000239443 NA NA NA NA NA 3q25.31 NA NA NA NA rs9854587 0.46 0.46 0.439 0.483027 0.4672 0.5883 0.4452 0.3306 0.6237 0.46 0.58 0.43 0.34 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.186465 NA NA NA NA NA 0.232 NA 3.5328 1299 15 41814172 41814172 G C intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2289740 0.49 0.49 0.495 0.496805 0.4672 0.3294 0.5101 0.6717 0.454 0.48 0.32 0.5 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140406 NA NA NA NA NA 0.543 NA 3.5328 1299 2 102785158 102785158 G T intronic IL1R1 NA NA NA intronic ENSG00000115594 NA NA NA NA NA 2q12.1 NA NA NA NA rs3213735 0.32 0.32 0.219 NA NA NA NA NA NA 0.27 0.44 0.37 0.22 0.3188 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.232271 NA NA 0.148488 0.100772 NA 0.13 NA 3.532712 1299 15 65681801 65681801 G A intronic IGDCC4 NA NA NA intronic ENSG00000103742 NA NA NA NA NA 15q22.31 NA NA NA NA rs11071841 0.23 0.23 0.209 0.192093 0.1551 0.4167 0.2176 0.1225 0.0746 0.16 0.44 0.17 0.14 0.1708 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.772423 2.772423 NA 0.141681 0.143019 NA 0.261 NA 3.532419 1299 10 99359412 99359412 C T intronic HOGA1 NA NA NA intronic ENSG00000155252,ENSG00000241935,ENSG00000249967 NA NA NA NA NA 10q24.2 NA NA NA NA rs7078003 0.09 0.09 0.068 0.0908546 0.1541 0.0327 0.0663 0.0961 0.0961 0.16 0.04 0.06 0.08 0.1393 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122336 NA NA 0.174419 0.107354 NA 0.043 NA 3.532181 1299 3 188584186 188584186 G A intronic LPP NA NA NA intronic ENSG00000145012 NA NA NA NA NA 3q28 NA NA NA NA rs1877547 0.07 0.07 0.08 0.0611022 0.162 0.002 0.0504 0.0053 0.1012 0.17 0.0035 0.06 0.01 0.137 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.353589 NA NA 0.168837 0.029732 NA 0.116 NA 3.532163 1299 7 149575884 149575884 T C intronic ATP6V0E2 NA NA NA ncRNA_UTR3 ENSG00000171130 NA NA NA NA NA 7q36.1 NA Name=Egr-1 NA NA rs10246226 0.59 0.59 0.556 0.575879 0.6004 0.377 0.5303 0.8495 0.4182 0.6 0.42 0.55 0.81 0.5735 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646676 NA NA 0.627297 0.810561 NA 0.63 NA 3.5321363 1299 5 119016190 119016190 A T intergenic FAM170A,PRR16 dist=44673;dist=783829 NA NA ncRNA_exonic ENSG00000234259 NA NA NA NA NA 5q23.1 NA NA NA NA rs1972629 0.38 0.38 0.397 0.390775 0.4682 0.3532 0.415 0.3517 0.3855 0.46 0.33 0.39 0.32 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691763 NA NA NA NA NA 0.464 NA 3.5318 1299 6 73919713 73919713 A G intergenic KCNQ5,KHDC1L dist=11140;dist=13555 NA NA ncRNA_exonic ENSG00000251360 NA NA NA NA NA 6q13 NA NA NA NA rs2882402 0.42 0.42 0.402 0.397764 0.4682 0.3621 0.3963 0.5045 0.2188 0.46 0.32 0.38 0.5 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187981 NA NA NA NA NA 0.543 NA 3.5318 1299 6 73919726 73919726 T G intergenic KCNQ5,KHDC1L dist=11153;dist=13542 NA NA ncRNA_exonic ENSG00000251360 NA NA NA NA NA 6q13 NA NA NA NA rs4301273 0.42 0.42 0.416 0.397764 0.4682 0.3621 0.3963 0.5045 0.2188 0.46 0.32 0.38 0.5 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46264 NA NA NA NA NA 0.543 NA 3.5318 1299 9 114467448 114467448 T C intronic C9orf84 NA NA NA intronic ENSG00000165181 NA NA NA NA NA 9q31.3 NA NA NA NA rs4993590 NA NA 0.102 0.43151 0.4682 0.7639 0.5836 0.1331 0.3466 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756657 NA NA NA NA NA NA NA 3.5318 1299 11 118986659 118986659 C T intronic C2CD2L NA NA NA intronic ENSG00000172375 NA NA NA NA NA 11q23.3 NA NA NA NA rs608793 0.44 0.44 0.43 0.412141 0.4682 0.1012 0.6297 0.6437 0.2076 0.48 0.12 0.58 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764451 NA NA NA NA NA 0.464 NA 3.5318 1299 16 57144920 57144920 T A intronic CPNE2 NA NA NA intronic ENSG00000140848 NA NA NA NA NA 16q13 NA NA NA NA rs8053682 0.51 0.51 0.564 0.614018 0.4682 0.6329 0.4078 0.8336 0.5941 0.41 0.56 0.42 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309718 NA NA NA NA NA NA NA 3.5318 1299 16 57144921 57144921 G C intronic CPNE2 NA NA NA intronic ENSG00000140848 NA NA NA NA NA 16q13 NA NA NA NA rs8047463 0.51 0.51 0.576 0.614018 0.4682 0.6329 0.4078 0.8336 0.5941 0.41 0.56 0.42 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980625 NA NA NA NA NA NA NA 3.5318 1299 17 55754573 55754573 G A intronic MSI2 NA NA NA intronic ENSG00000153944 NA NA NA NA NA 17q22 NA NA NA NA rs2286359 0.39 0.39 0.358 0.372404 0.4682 0.2917 0.4726 0.2784 0.4131 0.45 0.31 0.52 0.3 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.492433 2.492433 NA NA NA NA 0.464 NA 3.5318 1299 15 25958797 25958797 G A intronic ATP10A NA NA NA intronic ENSG00000206190 NA NA NA NA NA 15q12 NA NA NA NA rs2291351 0.16 0.16 0.13 0.145767 0.1322 0.2024 0.2392 0.0461 0.1697 0.13 0.24 0.23 0.06 0.189 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944683 NA NA 0.147127 0.071136 NA 0.123 NA 3.531673 1299 1 19549864 19549864 T C intronic EMC1 NA NA NA ncRNA_intronic ENSG00000230424 NA NA NA NA NA 1p36.13 NA NA NA NA rs2073105 0.35 0.35 0.312 0.332468 0.2614 0.6835 0.2911 0.1346 0.3405 0.25 0.71 0.25 0.14 0.296 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108514 NA NA 0.244302 0.150931 NA 0.21 NA 3.5316313 1299 11 47431961 47431961 G A intronic SLC39A13 NA NA NA intronic ENSG00000165915 NA NA NA NA NA 11p11.2 NA NA NA NA rs61000762 0.22 0.22 0.207 0.222444 0.1421 0.2956 0.1988 0.3071 0.1319 0.15 0.32 0.21 0.24 0.1889 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509003 NA NA 0.137506 0.263517 NA 0.167 NA 3.531494 1299 19 43439528 43439528 C A intronic PSG7 NA NA NA intronic ENSG00000221878 NA NA NA NA NA 19q13.31 NA NA NA NA rs10422023 0.22 0.22 0.196 0.277955 0.1272 0.4216 0.1859 0.2648 0.3681 0.13 0.37 0.13 0.23 0.2082 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1999 NA NA 0.133721 0.238074 NA 0.181 NA 3.530879 1299 12 96371670 96371670 G A intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs3764038 0.31 0.31 0.298 0.277556 0.2356 0.4554 0.4496 0.1452 0.1943 0.22 0.47 0.41 0.19 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885363 NA NA 0.233551 0.157534 NA 0.268 NA 3.530849 1299 19 41762525 41762525 A G intronic AXL NA NA NA intronic ENSG00000167601 NA NA NA NA NA 19q13.2 NA NA NA NA rs2304232 0.17 0.17 0.162 0.150958 0.174 0.2778 0.1311 0.0968 0.0838 0.16 0.27 0.16 0.1 0.1418 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795274 NA NA 0.153372 0.113936 NA 0.138 NA 3.530828 1299 7 44571657 44571657 G A intronic NPC1L1 NA NA NA intronic ENSG00000015520 NA NA NA NA NA 7p13 NA NA NA NA rs55837134 0.08 0.08 0.07 0.0660942 0.163 0.004 0.0821 0.0113 0.093 0.16 0.01 0.11 0.01 0.1349 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781613 NA NA 0.171279 0.049705 NA 0.043 NA 3.530821 1299 1 200965601 200965601 G A intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs10920088 0.6 0.6 0.635 0.589457 0.4692 0.627 0.4669 0.8646 0.3896 0.46 0.65 0.47 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591627 NA NA NA NA NA 0.594 NA 3.5308 1299 1 214478459 214478459 G A intronic SMYD2 NA NA NA intronic ENSG00000143499 NA NA NA NA NA 1q32.3 NA NA NA NA rs6540819 0.54 0.54 0.558 0.576078 0.4692 0.62 0.4236 0.711 0.5665 0.46 0.58 0.42 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061752 NA NA NA NA NA 0.572 NA 3.5308 1299 2 113953952 113953952 T C intronic PSD4 NA NA NA intronic ENSG00000125637 NA NA NA NA NA 2q13 NA NA NA NA rs4848318 0.46 0.46 0.403 0.441494 0.4692 0.6508 0.5288 0.1838 0.4836 0.47 0.63 0.49 0.2 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220932 NA NA NA NA NA 0.413 NA 3.5308 1299 4 47589299 47589299 C A intronic ATP10D NA NA NA intronic ENSG00000145246 NA NA NA NA NA 4p12 NA NA NA NA rs2351790 0.61 0.61 0.612 0.558307 0.4692 0.6151 0.5706 0.7587 0.3119 0.48 0.65 0.59 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220233 NA NA NA NA NA 0.63 NA 3.5308 1299 17 909998 909998 G A intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA NA NA NA rs2241930 0.35 0.35 0.242 0.33147 0.4692 0.1974 0.4539 0.2708 0.3231 0.44 0.2 0.46 0.29 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334795 NA NA NA NA NA NA NA 3.5308 1299 19 2194657 2194657 C T intronic DOT1L NA NA NA intronic ENSG00000104885 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807212 0.36 0.36 NA 0.326677 0.4692 0.3224 0.3674 0.1838 0.3487 0.46 0.37 0.4 0.17 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650548 NA NA NA NA NA 0.355 NA 3.5308 1299 19 3193180 3193180 C G intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs538197 0.46 0.46 0.402 0.489816 0.4692 0.6379 0.5245 0.3064 0.5818 0.44 0.59 0.5 0.3 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31966 NA NA NA NA NA 0.341 NA 3.5308 1299 16 28914026 28914026 G A intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA rs41292394 0.08 0.08 0.072 0.0640974 0.17 0.003 0.1153 0.0106 0.0542 0.15 0.0035 0.16 0.01 0.1211 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859373 NA NA 0.17814 0.033227 NA 0.116 NA 3.53076 1299 X 100265552 100265552 T A UTR3 TRMT2B NM_024917:c.*18A>T,NM_001167971:c.*18A>T,NM_001167970:c.*18A>T,NM_001167972:c.*18A>T NA NA UTR3 ENSG00000188917 ENST00000545398:c.*18A>T,ENST00000338687:c.*18A>T,ENST00000490509:c.*161A>T,ENST00000372939:c.*18A>T,ENST00000372936:c.*18A>T,ENST00000372935:c.*18A>T NA NA NA NA Xq22.1 NA NA NA NA rs5921705 0.37 0.37 0.39905 NA NA NA NA NA NA 0.4 0.05 0.27 0.76 0.3877 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.997858 2.997858 NA 0.414957 0.760104 NA 0.326 NA 3.5306764 1299 6 151152656 151152656 T C exonic PLEKHG1 NA synonymous SNV PLEKHG1:NM_001029884:exon16:c.T2409C:p.T803T exonic ENSG00000120278 NA synonymous SNV ENSG00000120278:ENST00000358517:exon15:c.T2409C:p.T803T,ENSG00000120278:ENST00000367328:exon16:c.T2409C:p.T803T NA NA 6q25.1 NA NA NA NA rs803411 0.67 0.67 0.632 0.63738 0.7107 0.5397 0.7205 0.6112 0.6391 0.72 0.58 0.75 0.65 0.7063 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.539312 NA NA 0.71907 0.647072 NA 0.667 NA 3.5305966 1299 15 100594299 100594299 G C intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs28587358 0.32 0.32 NA 0.307708 0.2018 0.4435 0.3112 0.3313 0.2423 0.2 0.47 0.31 0.36 0.2677 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916969 NA NA NA NA NA 0.268 NA 3.5305 1299 9 34107310 34107310 G A intronic DCAF12 NA NA NA intronic ENSG00000198876 NA NA NA NA NA 9p13.3 NA NA NA NA rs10511915 0.11 0.11 0.092 0.133187 0.1431 0.0675 0.1326 0.0469 0.3078 0.15 0.09 0.15 0.03 0.1585 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124022 NA NA 0.168256 0.068543 NA 0.116 NA 3.530144 1299 3 10077955 10077955 A G intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA NA NA NA rs17032278 0.18 0.18 0.191 0.182109 0.1392 0.0486 0.1614 0.3623 0.135 0.15 0.07 0.18 0.38 0.1662 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992148 NA NA 0.164457 0.323877 NA 0.348 NA 3.530143 1299 7 45743128 45743128 T G intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA Name=c-Myc NA NA rs2247685 0.43 0.43 0.41 0.45008 0.4891 0.4206 0.4856 0.2474 0.6892 0.5 0.42 0.49 0.29 0.4933 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.245427 NA NA 0.487558 0.270767 NA 0.428 NA 3.530042 1299 1 210857457 210857457 A G exonic KCNH1 NA synonymous SNV KCNH1:NM_002238:exon11:c.T2055C:p.D685D,KCNH1:NM_172362:exon11:c.T2136C:p.D712D exonic ENSG00000143473 NA synonymous SNV ENSG00000143473:ENST00000271751:exon11:c.T2136C:p.D712D,ENSG00000143473:ENST00000367007:exon11:c.T2055C:p.D685D NA NA 1q32.2 NA NA NA NA rs1135317 0.7 0.7 0.713 0.739417 0.7117 0.6528 0.6888 0.8071 0.8016 0.71 0.65 0.66 0.78 0.7114 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314242 NA NA 0.713654 0.795506 NA 0.601 NA 3.5299126 1299 3 111658514 111658514 A G intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA NA NA 3q13.2 NA NA NA NA rs2272289 0.1 0.1 0.088 0.0908546 0.1521 0.0069 0.0922 0.1195 0.0746 0.15 0.01 0.12 0.09 0.1423 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064829 NA NA 0.175698 0.140036 NA 0.174 NA 3.529902 1299 2 74482892 74482892 T C intronic SLC4A5 NA NA NA intronic ENSG00000188687,ENSG00000264324 NA NA NA NA NA 2p13.1 NA NA NA NA rs7602215 0.23 0.23 0.238 0.2502 0.1431 0.3393 0.1383 0.3366 0.2311 0.12 0.35 0.15 0.33 0.176 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100127 NA NA 0.151047 0.312528 NA 0.333 NA 3.529853 1299 1 145296268 145296268 C T intronic NBPF10,NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA NA NA rs4996271 NA NA NA 0.332867 0.4702 0.4107 0.4323 0.0673 0.3998 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765436 NA NA NA NA NA NA NA 3.5298 1299 2 133539460 133539460 A T intronic NCKAP5 NA NA NA intronic ENSG00000176771 NA NA NA NA NA 2q21.2 NA NA NA NA rs6717116 0.56 0.56 0.542 0.536741 0.4702 0.745 0.4813 0.4985 0.4816 0.47 0.78 0.48 0.49 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.561558 NA NA NA NA NA 0.638 NA 3.5298 1299 6 151199071 151199071 A G intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA NA NA rs2073063 0.5 0.5 0.464 0.498003 0.4702 0.4464 0.5259 0.5923 0.4325 0.46 0.45 0.53 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959976 NA NA NA NA NA 0.522 NA 3.5298 1299 19 50315698 50315698 A C intronic FUZ NA NA NA intronic ENSG00000010361 NA NA NA NA NA 19q13.33 NA NA NA NA rs2305919 0.45 0.45 0.44 0.494609 0.4702 0.4087 0.4049 0.5204 0.637 0.46 0.39 0.42 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234701 NA NA NA NA ID=COSN165876;OCCURENCE=1(breast),1(endometrium) 0.341 NA 3.5298 1299 20 45797954 45797954 T A intronic EYA2 NA NA NA intronic ENSG00000064655 NA NA NA NA NA 20q13.12 NA NA NA NA rs3091593 0.43 0.43 0.369 0.438698 0.4702 0.5109 0.5908 0.1982 0.5491 0.45 0.52 0.54 0.19 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009646 NA NA NA NA NA 0.341 NA 3.5298 1299 21 31914000 31914000 T A exonic KRTAP19-6 NA synonymous SNV KRTAP19-6:NM_181612:exon1:c.A153T:p.G51G exonic ENSG00000186925 NA synonymous SNV ENSG00000186925:ENST00000334046:exon1:c.A153T:p.G51G NA NA 21q22.11 NA NA NA NA rs1023364 0.73 0.73 0.73 0.747804 0.7117 0.7024 0.7277 0.8033 0.771 0.7 0.71 0.72 0.79 0.7156 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136985 NA NA 0.709651 0.782569 NA 0.79 NA 3.5297156 1299 14 106091555 106091555 C T intergenic TMEM121,ELK2AP dist=95016;dist=44359 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon3:c.G339A:p.E113E NA NA 14q32.33 NA NA NA NA rs35035896 0.34 0.34 0.312 0.360423 0.3151 0.5992 0.2421 0.3253 0.2924 0.31 0.46 0.28 0.28 0.3323 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.974181 NA NA 0.323024 0.26927 NA 0.261 NA 3.529576 1299 3 173322248 173322248 T C UTR5 NLGN1 NM_014932:c.-141T>C NA NA UTR5 ENSG00000169760 ENST00000423427:c.-141T>C,ENST00000413821:c.-141T>C,ENST00000457714:c.-141T>C,ENST00000361589:c.-141T>C,ENST00000415045:c.-141T>C NA NA NA NA 3q26.31 NA NA NA NA rs3844523 0.77 0.77 0.76 0.747005 0.8042 0.7887 0.7262 0.6861 0.7423 0.82 0.79 0.77 0.69 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.759271 NA NA NA NA NA 0.717 NA 3.5291334 1299 16 23221238 23221238 A G intronic SCNN1G NA NA NA ncRNA_intronic ENSG00000260741 NA NA NA NA NA 16p12.2 NA NA NA NA rs4281710 0.81 0.81 0.775 0.783946 0.8042 0.873 0.8732 0.6135 0.8384 0.8 0.91 0.87 0.67 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.50806 1.50806 NA NA NA NA 0.79 NA 3.5291333 1299 4 89649659 89649659 A G ncRNA_exonic FAM13A-AS1 NA NA NA ncRNA_exonic ENSG00000248019 NA NA NA NA NA 4q22.1 NA NA NA NA rs9224 0.6 0.6 0.58 0.634984 0.3439 0.8274 0.5072 0.7708 0.6431 0.35 0.86 0.44 0.78 0.4599 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390372 NA NA 0.333837 0.714026 NA 0.536 NA 3.5290296 1299 17 40836975 40836975 A G intronic CNTNAP1 NA NA NA ncRNA_intronic ENSG00000267765 NA NA NA NA NA 17q21.2 NA Name=Egr-1 NA NA rs9889373 0.61 0.61 0.612 0.670527 0.5785 0.4653 0.5591 0.9319 0.7025 0.58 0.46 0.53 0.9 0.6245 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515455 NA NA 0.601512 0.88039 NA 0.775 NA 3.5288213 1299 1 240492543 240492543 G A intronic FMN2 NA NA NA intronic ENSG00000155816 NA NA NA NA NA 1q43 NA NA NA NA rs6686353 0.61 0.61 0.625 0.623602 0.4712 0.5 0.6427 0.9206 0.4928 0.48 0.53 0.64 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699815 NA NA NA NA NA 0.594 NA 3.5288 1299 2 86360225 86360225 A G intronic PTCD3 NA NA NA intronic ENSG00000132300 NA NA NA NA NA 2p11.2 NA NA NA NA rs2241438 0.28 0.28 0.263 0.257788 0.4712 0.1478 0.3646 0.0575 0.3466 0.46 0.16 0.39 0.07 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280339 NA NA NA NA NA 0.333 NA 3.5288 1299 3 37058509 37058509 A G intronic MLH1 NA NA NA intronic ENSG00000076242 NA NA NA NA NA 3p22.2 NA NA NA NA rs4647277 0.37 0.37 0.356 0.341653 0.4712 0.0754 0.4078 0.5 0.2219 0.48 0.09 0.46 0.47 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602605 NA NA NA NA NA 0.493 NA 3.5288 1299 6 159197371 159197371 T C intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA NA NA NA rs9346767 0.33 0.33 0.317 0.33147 0.4712 0.1935 0.2608 0.2837 0.4448 0.48 0.16 0.32 0.29 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497853 NA NA NA NA NA 0.312 NA 3.5288 1299 18 8546782 8546782 A G intergenic PTPRM,RAB12 dist=139923;dist=62661 NA NA ncRNA_exonic ENSG00000225212 NA NA NA NA NA 18p11.22 NA NA NA NA rs16953712 0.52 0.52 0.536 0.564696 0.4712 0.4464 0.428 0.7897 0.5757 0.47 0.42 0.47 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272007 NA NA NA NA NA 0.507 NA 3.5288 1299 19 11224491 11224491 A G intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA NA NA NA rs1569372 0.35 0.35 0.299 0.355431 0.4712 0.2014 0.4986 0.2882 0.3845 0.47 0.18 0.47 0.29 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656548 NA NA NA NA NA 0.399 NA 3.5288 1299 3 73024350 73024350 C A UTR3 GXYLT2 NM_001080393:c.*40C>A NA NA UTR3 ENSG00000172986 ENST00000389617:c.*40C>A NA NA NA NA 3p13 NA NA Name=10 NA rs1052278 0.56 0.56 0.529 0.554712 0.5905 0.5268 0.67 0.5363 0.4898 0.58 0.52 0.64 0.51 0.5988 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.326334 2.326334 NA 0.615282 0.572225 NA 0.406 NA 3.5287514 1299 9 27217810 27217810 C T intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs2275083 0.28 0.28 0.288 0.315495 0.2117 0.1855 0.232 0.6188 0.2055 0.23 0.18 0.21 0.53 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541423 NA NA 0.259585 0.586705 NA 0.326 NA 3.528715 1299 12 6669257 6669257 T C intronic NOP2 NA NA NA intronic ENSG00000111641 NA NA NA NA NA 12p13.31 NA NA NA NA rs11064255 0.19 0.19 0.203 0.230232 0.1372 0.0188 0.1009 0.5635 0.1851 0.13 0.01 0.11 0.55 0.1693 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299457 NA NA 0.165052 0.470153 NA 0.196 NA 3.528448 1299 19 33444511 33444511 T C intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs80283382 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4717 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021734 NA NA NA NA NA NA NA 3.5283 1299 19 13418707 13418707 C T intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA NA NA NA rs16015 0.1 0.1 0.088 0.0994409 0.165 0.0625 0.098 0.0431 0.1472 0.16 0.05 0.1 0.05 0.1438 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223785 NA NA 0.162983 0.055091 NA 0.13 NA 3.528217 1299 11 47857168 47857168 A G intronic NUP160 NA NA NA intronic ENSG00000030066 NA NA NA NA NA 11p11.2 NA NA NA NA rs2305982 0.22 0.22 0.196 0.21246 0.1431 0.2976 0.1988 0.2678 0.1309 0.15 0.33 0.2 0.22 0.1918 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082274 NA NA 0.136924 0.251931 NA 0.159 NA 3.528176 1299 8 16935234 16935234 G C intronic MICU3 NA NA NA intronic ENSG00000155970 NA NA NA NA NA 8p22 NA NA NA NA rs10098337 0.39 0.39 0.377 0.363219 0.2406 0.4742 0.3617 0.4841 0.2127 0.24 0.49 0.35 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184137 NA NA 0.231278 0.403902 NA 0.261 NA 3.528122 1299 2 61009909 61009909 C T intronic PAPOLG NA NA NA intronic ENSG00000115421 NA NA NA Score=624;Name=lod=458 NA 2p16.1 NA NA NA NA rs10197672 0.46 0.46 0.464 0.435104 0.5368 0.1468 0.4164 0.68 0.3098 0.52 0.16 0.5 0.68 0.445 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.641646 1.641646 NA 0.490109 0.64941 NA 0.572 NA 3.528091 1299 2 10133284 10133284 C T intronic GRHL1 NA NA NA intronic ENSG00000134317 NA NA NA NA NA 2p25.1 NA NA NA NA rs12618788 0.22 0.22 0.186 0.202476 0.1501 0.2629 0.3487 0.2027 0.09 0.15 0.25 0.34 0.21 0.1886 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414086 NA NA 0.133488 0.196777 NA 0.181 NA 3.527812 1299 1 215260152 215260152 A T intronic KCNK2 NA NA NA intronic ENSG00000082482 NA NA NA NA NA 1q41 NA NA NA NA rs11586565 0.4 0.4 0.352 0.29972 0.4722 0.5079 0.4841 0.0227 0.1513 0.51 0.54 0.45 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350669 NA NA NA NA NA 0.254 NA 3.5278 1299 6 101037718 101037718 T A intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs1006398 0.45 0.45 0.422 0.394968 0.4722 0.5238 0.4957 0.2784 0.2689 0.49 0.58 0.46 0.24 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579558 NA NA NA NA NA 0.406 NA 3.5278 1299 9 27202727 27202727 T C intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs550721 0.4 0.4 0.016 0.409744 0.4722 0.3958 0.5086 0.3313 0.3957 0.46 0.38 0.47 0.27 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314854 NA NA NA NA NA NA NA 3.5278 1299 9 117168551 117168551 C A intronic DFNB31 NA NA NA intronic ENSG00000095397 NA NA NA NA NA 9q32 NA NA NA NA rs10982200 0.42 0.42 0.394 0.404752 0.4722 0.4722 0.4899 0.1899 0.4959 0.47 0.49 0.51 0.19 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601674 NA NA NA NA NA 0.435 NA 3.5278 1299 10 121196062 121196062 C T intronic GRK5 NA NA NA intronic ENSG00000198873 NA NA NA NA NA 10q26.11 NA NA NA NA rs2275040 0.3 0.3 0.253 0.295927 0.4722 0.1647 0.4078 0.1483 0.3701 0.47 0.16 0.41 0.14 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18332 NA NA NA NA NA 0.391 NA 3.5278 1299 10 121199365 121199365 T C intronic GRK5 NA NA NA intronic ENSG00000198873 NA NA NA NA NA 10q26.11 NA NA NA NA rs1109489 0.33 0.33 0.268 0.325679 0.4722 0.1657 0.4179 0.2549 0.3701 0.47 0.16 0.42 0.24 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707659 NA NA NA NA NA 0.428 NA 3.5278 1299 17 45095015 45095015 G T intergenic RPRML,CDC27 dist=38401;dist=100296 NA NA ncRNA_exonic ENSG00000263142 NA NA NA NA NA 17q21.32 NA NA NA NA rs3890957 NA NA 0.152 0.386981 0.4722 0.3026 0.4524 0.3011 0.456 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259336 NA NA NA NA NA NA NA 3.5278 1299 20 31828265 31828265 A G intronic BPIFA1 NA NA NA intronic ENSG00000198183 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059187 0.53 0.53 0.534 0.541134 0.4722 0.3909 0.5245 0.8548 0.3548 0.47 0.36 0.52 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151774 NA NA NA NA NA 0.514 NA 3.5278 1299 10 124159835 124159835 A G intronic PLEKHA1 NA NA NA intronic ENSG00000107679 NA NA NA NA NA 10q26.13 NA NA NA NA rs9988734 0.13 0.13 0.141 0.125399 0.1561 0.0565 0.1167 0.1498 0.138 0.17 0.07 0.13 0.17 0.1432 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069055 NA NA 0.172907 0.145483 NA 0.196 NA 3.527793 1299 14 23881920 23881920 G T downstream MYH7 NA NA NA downstream ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs12147570 0.08 0.08 0.08 0.0686901 0.1392 0.001 0.0706 0.0946 0.0297 0.13 0.0017 0.09 0.1 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.14219 3.14219 NA NA NA NA 0.167 NA 3.5274666 1299 3 53215799 53215799 G A intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA rs7630325 0.16 0.16 0.147 0.160743 0.161 0.2242 0.2176 0.1082 0.1258 0.17 0.19 0.21 0.08 0.1635 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363121 NA 0.04 0.148256 0.099864 NA 0.109 NA 3.527244 1299 6 41704772 41704772 C G intronic PGC NA NA NA intronic ENSG00000096088 NA NA NA NA NA 6p21.1 NA NA NA NA rs73733015 0.2 0.2 0.194 0.191494 0.1292 0.251 0.2738 0.1982 0.1268 0.13 0.25 0.23 0.23 0.1907 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.858023 4.858023 NA 0.152907 0.189287 NA 0.123 NA 3.527193 1299 5 160047265 160047265 C G intronic ATP10B NA NA NA ncRNA_intronic ENSG00000253687 NA NA NA NA NA 5q34 NA NA NA NA rs6862674 0.78 0.78 0.797 0.766773 0.8062 0.8234 0.696 0.7141 0.7894 0.81 0.81 0.74 0.72 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318904 NA NA NA NA NA 0.775 NA 3.5271333 1299 7 24746022 24746022 A G intronic DFNA5 NA NA NA intronic ENSG00000105928 NA NA NA NA NA 7p15.3 NA NA NA NA rs2269812 0.15 0.15 0.121 0.165335 0.1392 0.2004 0.2579 0.0809 0.2045 0.14 0.18 0.25 0.07 0.1945 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254 NA NA 0.139167 0.090227 NA 0.094 NA 3.527133 1299 11 124134743 124134743 G A exonic OR8G5 NA synonymous SNV OR8G5:NM_001005198:exon1:c.G21A:p.G7G ncRNA_intronic ENSG00000197849 NA NA NA NA NA 11q24.2 NA NA NA NA rs2466637 0.5 0.5 0.468 0.438299 0.5527 0.5823 0.5591 0.292 0.2843 0.54 0.59 0.54 0.3 0.5407 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.936424 NA NA 0.546224 0.338816 NA 0.304 NA 3.5270426 1299 7 111958382 111958382 G A intronic ZNF277 NA NA NA intronic ENSG00000198839 NA NA NA NA NA 7q31.1 NA NA NA NA rs4727766 0.4 0.4 0.414 0.439497 0.2286 0.2917 0.3876 0.8041 0.3528 0.24 0.26 0.41 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519159 NA NA 0.244493 0.723266 NA 0.478 NA 3.526907 1299 3 49813169 49813169 C A intronic IP6K1 NA NA NA intronic ENSG00000176095 NA NA NA NA NA 3p21.31 NA NA NA NA rs57648519 0.39 0.39 0.396 0.414537 0.4732 0.1696 0.3559 0.6271 0.3609 0.46 0.18 0.34 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336187 NA NA NA NA NA 0.362 NA 3.5268 1299 3 49881134 49881134 A T intronic TRAIP NA NA NA intronic ENSG00000183763 NA NA NA NA NA 3p21.31 NA NA NA NA rs2246832 0.41 0.41 0.434 0.413339 0.4732 0.1657 0.3588 0.6717 0.2965 0.46 0.17 0.34 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48997 NA NA NA NA NA 0.37 NA 3.5268 1299 4 79420787 79420787 C T intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs4975134 0.57 0.57 0.594 0.582069 0.4732 0.6806 0.4366 0.6218 0.6421 0.48 0.71 0.44 0.63 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046688 NA NA NA NA NA 0.572 NA 3.5268 1299 5 115358282 115358282 A G intronic AQPEP NA NA NA intronic ENSG00000172901,ENSG00000268714 NA NA NA NA NA 5q23.1 NA NA NA NA rs13182375 0.47 0.47 0.497 0.446486 0.4732 0.37 0.3329 0.5741 0.4059 0.49 0.41 0.37 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852437 NA NA NA NA NA 0.37 NA 3.5268 1299 7 97874143 97874143 C A intronic TECPR1 NA NA NA intronic ENSG00000205356 NA NA NA NA NA 7q21.3 NA NA NA NA rs3816944 0.32 0.32 0.331 0.252796 0.4732 0.2579 0.3458 0.1029 0.1575 0.47 0.23 0.37 0.14 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34072 NA NA NA NA NA 0.21 NA 3.5268 1299 7 157370645 157370645 G A intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs736940 0.31 0.31 0.323 0.289537 0.4732 0.0099 0.2867 0.3918 0.2526 0.46 0.01 0.32 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919877 NA NA NA NA NA 0.471 NA 3.5268 1299 10 116596071 116596071 A C intronic FAM160B1 NA NA NA intronic ENSG00000151553 NA NA NA NA NA 10q25.3 NA NA NA NA rs17095662 0.38 0.38 0.369 0.388778 0.4732 0.2351 0.3588 0.3911 0.4785 0.48 0.27 0.39 0.37 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.312648 1.312648 NA NA NA NA 0.522 NA 3.5268 1299 14 37153163 37153163 A G intronic SLC25A21 NA NA NA intronic ENSG00000183032 NA NA NA NA NA 14q13.3 NA NA NA NA rs1884217 0.6 0.6 0.557 0.628195 0.4732 0.7996 0.6643 0.5877 0.6401 0.46 0.83 0.65 0.53 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294299 NA NA NA NA NA 0.58 NA 3.5268 1299 19 53158992 53158992 C G intronic ZNF83 NA NA NA intronic ENSG00000167766 NA NA NA NA NA 19q13.41 NA NA NA NA rs3745106 0.59 0.59 0.575 0.582668 0.4732 0.7044 0.6441 0.6377 0.4519 0.48 0.72 0.57 0.63 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482373 NA NA NA NA NA 0.493 NA 3.5268 1299 19 55776823 55776823 G A intronic HSPBP1 NA NA NA intronic ENSG00000133265 NA NA NA NA NA 19q13.42 NA NA NA NA rs67351527 0.32 0.32 0.322 0.3123 0.4732 0.0923 0.3646 0.3011 0.3517 0.45 0.07 0.4 0.33 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6333 NA NA NA NA NA 0.37 NA 3.5268 1299 22 31844373 31844373 A C intronic EIF4ENIF1 NA NA NA intronic ENSG00000184708,ENSG00000185721 NA NA NA NA NA 22q12.2 NA NA NA NA rs2012451 0.33 0.33 0.326 0.341454 0.4732 0.0813 0.3184 0.41 0.3978 0.46 0.09 0.37 0.4 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.723364 NA NA NA NA NA 0.341 NA 3.5268 1299 17 42937749 42937749 C G intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 NA NA NA NA rs9903106 0.11 0.11 0.108 0.105431 0.167 0.005 0.1081 0.1021 0.1483 0.16 0.0035 0.14 0.11 0.1377 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584688 NA NA 0.168605 0.095552 NA 0.101 NA 3.526695 1299 1 10218377 10218377 A G intronic UBE4B NA NA NA intronic ENSG00000130939 NA NA NA NA NA 1p36.22 NA NA NA NA rs2273298 0.34 0.34 0.345 0.365016 0.1392 0.2956 0.1873 0.8003 0.2065 0.14 0.29 0.2 0.79 0.2033 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.869969 1.869969 NA 0.130814 0.663187 ID=COSN162924;OCCURENCE=1(breast) 0.355 NA 3.526686 1299 13 52345637 52345637 G C intronic DHRS12 NA NA NA intronic ENSG00000102796 NA NA NA NA NA 13q14.3 NA NA NA NA rs2296028 0.12 0.12 0.109 0.139776 0.16 0.2073 0.0965 0.0045 0.2628 0.17 0.17 0.1 0.01 0.1501 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.217736 NA NA 0.163256 0.033591 NA 0.08 NA 3.526644 1299 6 125598200 125598200 G A intronic HDDC2 NA NA NA intronic ENSG00000111906 NA NA NA NA NA 6q22.31 NA NA NA NA rs2243391 0.15 0.15 0.21 0.171526 0.161 0.1071 0.1758 0.2965 0.0767 0.12 0.09 0.17 0.27 0.1522 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223726 NA NA 0.16035 0.283697 ID=COSN167885;OCCURENCE=1(large_intestine) NA NA 3.52645 1299 14 100803655 100803655 C A intronic WARS NA NA NA ncRNA_intronic ENSG00000258666 NA NA NA NA NA 14q32.2 NA NA NA NA rs2234528 0.79 0.79 0.761 0.777756 0.8072 0.87 0.8631 0.6051 0.8252 0.81 0.87 0.86 0.61 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915365 NA NA NA NA NA 0.717 NA 3.5261333 1299 1 55517861 55517861 C G intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs613855 0.52 0.52 0.481 0.488818 0.4742 0.7956 0.6787 0.171 0.4826 0.46 0.79 0.63 0.19 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254342 NA NA NA NA NA 0.312 NA 3.5258 1299 5 36136675 36136675 C T intronic LMBRD2 NA NA NA intronic ENSG00000164187 NA NA NA NA NA 5p13.2 NA NA NA NA rs267758 0.46 0.46 0.474 0.454073 0.4742 0.3542 0.4006 0.6498 0.3098 0.47 0.32 0.39 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050177 NA NA NA NA NA 0.341 NA 3.5258 1299 6 27236048 27236048 T G intergenic PRSS16,POM121L2 dist=11649;dist=40794 NA NA ncRNA_exonic ENSG00000270935 NA NA NA NA NA 6p22.1 NA NA NA NA rs3800314 0.49 0.49 0.539 0.501597 0.4742 0.2649 0.4135 0.8464 0.3701 0.46 0.26 0.43 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837215 NA NA NA NA NA 0.565 NA 3.5258 1299 6 137477823 137477823 C T intronic IL22RA2 NA NA NA intronic ENSG00000164485 NA NA NA NA NA 6q23.3 NA NA NA NA rs2064501 0.63 0.63 0.65 0.675919 0.4742 0.7222 0.487 0.91 0.6534 0.47 0.7 0.48 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633371 NA NA NA NA NA 0.623 NA 3.5258 1299 7 100607903 100607903 G A intergenic ACHE,MUC12 dist=114362;dist=5001 NA NA ncRNA_exonic ENSG00000225946 NA NA NA NA NA 7q22.1 NA NA NA NA rs6961167 NA NA 0.394 NA NA NA NA NA NA NA NA NA NA 0.4742 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.520165 NA NA NA NA NA 0.232 NA 3.5258 1299 22 17586631 17586631 G A intronic IL17RA NA NA NA intronic ENSG00000177663 NA NA NA NA NA 22q11.1 NA NA NA NA rs4819959 0.56 0.56 0.55 0.55631 0.4742 0.7907 0.4942 0.4523 0.5838 0.48 0.8 0.46 0.49 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00776 NA NA NA NA NA 0.471 NA 3.5258 1299 22 42397042 42397042 G T intronic WBP2NL NA NA NA intronic ENSG00000183066 NA NA NA NA NA 22q13.2 NA NA NA NA rs5758537 0.51 0.51 0.5 0.485623 0.4742 0.8641 0.3473 0.2526 0.5204 0.48 0.85 0.34 0.28 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05647 NA NA NA NA NA 0.304 NA 3.5258 1299 3 129810234 129810234 C T intronic ALG1L2 NA NA NA ncRNA_intronic ENSG00000248243,ENSG00000251287 NA NA NA NA NA 3q22.1 NA NA NA NA rs12495049 0.3 0.3 0.228 0.297923 0.4145 0.256 0.3818 0.1611 0.3466 0.4 0.22 0.4 0.15 0.3933 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71145 NA NA NA NA NA 0.377 NA 3.5255333 1299 12 133304604 133304604 C T intronic ANKLE2 NA NA NA intronic ENSG00000176915 NA NA NA NA NA 12q24.33 NA NA NA NA rs11147024 0.31 0.31 0.306 0.294529 0.1382 0.494 0.3963 0.3086 0.1585 0.15 0.5 0.37 0.31 0.2218 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231447 NA NA 0.114616 0.290873 NA 0.275 NA 3.525384 1299 17 4926882 4926882 A G exonic KIF1C NA synonymous SNV KIF1C:NM_006612:exon23:c.A2748G:p.P916P exonic ENSG00000129250 NA synonymous SNV ENSG00000129250:ENST00000320785:exon23:c.A2748G:p.P916P NA NA 17p13.2 NA NA NA NA rs346828 0.67 0.67 0.642 0.67512 0.7107 0.6627 0.7392 0.5204 0.8149 0.71 0.66 0.76 0.56 0.7143 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211401 NA NA 0.716434 0.562756 ID=COSM1162595;OCCURENCE=1(pancreas) 0.638 NA 3.5252326 1299 1 1918535 1918535 A T intronic KIAA1751 NA NA NA downstream ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs4535948 0.3 0.3 0.294 0.273363 0.3082 0.3214 0.2421 0.2133 0.2914 0.31 0.37 0.27 0.25 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040168 NA NA NA NA NA 0.326 NA 3.5251333 1300 1 150249101 150249101 C A intronic C1orf54 NA NA NA intronic ENSG00000118292 NA NA NA NA NA 1q21.2 NA NA NA NA rs11205354 0.65 0.65 0.639 0.6877 0.4751 0.6915 0.6859 0.8994 0.6176 0.47 0.67 0.65 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702572 NA NA NA NA NA 0.659 NA 3.5249 1300 6 35965810 35965810 C T intronic SLC26A8 NA NA NA intronic ENSG00000112053 NA NA NA NA NA 6p21.31 NA NA NA NA rs3800369 0.38 0.38 0.379 0.413339 0.4751 0.3105 0.3646 0.3578 0.5654 0.46 0.31 0.38 0.36 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.69013 1.69013 NA NA NA NA 0.348 NA 3.5249 1300 7 101183108 101183108 T C intronic COL26A1 NA NA NA intronic ENSG00000160963 NA NA NA NA NA 7q22.1 NA NA NA NA rs6465817 0.42 0.42 0.439 0.429513 0.4751 0.0962 0.3501 0.7648 0.3292 0.49 0.09 0.36 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308653 NA NA NA NA NA 0.652 NA 3.5249 1300 14 22070944 22070944 A G intergenic OR10G3,OR10G2 dist=32069;dist=31122 NA NA ncRNA_exonic ENSG00000169202 NA NA NA NA NA 14q11.2 NA NA NA NA rs12893117 0.41 0.41 0.4 0.386382 0.4751 0.4167 0.5447 0.264 0.317 0.47 0.41 0.49 0.28 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.827433 NA NA NA NA NA 0.413 NA 3.5249 1300 17 80544930 80544930 T C intronic FOXK2 NA NA NA intronic ENSG00000141568 NA NA NA NA NA 17q25.3 NA NA NA NA rs9914529 0.23 0.23 0.218 0.261981 0.1431 0.2153 0.2651 0.407 0.2342 0.13 0.22 0.27 0.36 0.1875 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167529 NA NA 0.144902 0.370741 NA 0.203 NA 3.524498 1300 11 124190137 124190137 A G upstream OR8D2 NA NA NA UTR5 ENSG00000197263 ENST00000357438:c.-44T>C NA NA NA NA 11q24.2 NA NA NA NA rs2466621 0.24 0.24 0.249 0.278155 0.1292 0.1905 0.2017 0.4539 0.3384 0.13 0.22 0.2 0.46 0.2006 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009593 NA NA 0.145756 0.407685 NA 0.355 NA 3.524444 1300 12 9260280 9260280 T C intronic A2M NA NA NA intronic ENSG00000175899 NA NA NA NA NA 12p13.31 NA Name=Pol2 NA NA rs226388 0.46 0.46 0.481 0.471046 0.497 0.122 0.5115 0.7927 0.3405 0.5 0.12 0.52 0.76 0.4733 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420494 NA NA 0.505275 0.756966 NA 0.572 NA 3.524425 1300 7 129853251 129853251 T G intronic SSMEM1 NA NA NA intronic ENSG00000165120 NA NA NA NA NA 7q32.2 NA NA NA NA rs6969994 0.19 0.19 0.204 0.1875 0.2366 0.0069 0.1499 0.3593 0.1176 0.24 0.0017 0.17 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681302 NA NA 0.239158 0.337428 NA 0.246 NA 3.524242 1300 1 110458234 110458234 G A intronic CSF1 NA NA NA intronic ENSG00000184371 NA NA NA NA NA 1p13.3 NA NA NA NA rs2275123 0.21 0.21 0.187 0.191693 0.1292 0.376 0.1657 0.1694 0.1145 0.13 0.37 0.19 0.17 0.183 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154403 NA NA 0.163605 0.188153 NA 0.225 NA 3.524195 1300 20 23586547 23586547 C T UTR5 CST9 NM_001008693:c.-46G>A NA NA upstream ENSG00000173335 NA NA NA NA NA 20p11.21 NA NA NA NA rs62207039 0.14 0.14 0.132 0.149361 0.1332 0.2014 0.1801 0.0703 0.1973 0.12 0.21 0.16 0.1 0.1725 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784173 NA NA 0.170349 0.088062 NA 0.109 NA 3.523951 1300 4 76797950 76797950 G A intronic PPEF2 NA NA NA intronic ENSG00000156194 NA NA NA NA NA 4q21.1 NA NA NA NA rs13132709 0.27 0.27 0.264 0.247204 0.4761 0.0169 0.2522 0.2443 0.2495 0.47 0.02 0.28 0.23 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975106 NA NA NA NA NA 0.348 NA 3.5239 1300 8 141549291 141549291 A G intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs2977469 0.56 0.56 0.547 0.553315 0.4761 0.6389 0.5663 0.5401 0.5532 0.48 0.67 0.52 0.57 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58851 NA NA NA NA NA 0.587 NA 3.5239 1300 14 22070898 22070898 T G intergenic OR10G3,OR10G2 dist=32023;dist=31168 NA NA ncRNA_exonic ENSG00000169202 NA NA NA NA NA 14q11.2 NA NA NA NA rs12897308 0.42 0.42 0.4 0.392173 0.4761 0.4167 0.5461 0.2844 0.317 0.47 0.41 0.49 0.31 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578089 NA NA NA NA NA 0.442 NA 3.5239 1300 15 83543958 83543958 C T intronic HOMER2 NA NA NA intronic ENSG00000103942 NA NA NA NA NA 15q25.2 NA NA NA NA rs1256454 0.52 0.52 0.53 0.506989 0.4761 0.629 0.4121 0.497 0.4939 0.47 0.64 0.44 0.5 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.027446 NA NA NA NA NA 0.449 NA 3.5239 1300 19 53156944 53156944 A G intronic ZNF83 NA NA NA intronic ENSG00000167766 NA NA NA NA NA 19q13.41 NA NA NA NA rs329941 0.59 0.59 0.575 0.600439 0.4761 0.7063 0.67 0.6528 0.499 0.48 0.72 0.57 0.62 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578625 NA NA NA NA NA 0.493 NA 3.5239 1300 20 45809652 45809652 A G intronic EYA2 NA NA NA intronic ENSG00000064655 NA NA NA NA NA 20q13.12 NA NA NA NA rs2235907 0.56 0.56 0.612 0.569089 0.4761 0.5119 0.389 0.8835 0.4264 0.5 0.48 0.43 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485459 NA NA NA NA NA 0.674 NA 3.5239 1300 20 45811788 45811788 G T intronic EYA2 NA NA NA intronic ENSG00000064655 NA NA NA NA NA 20q13.12 NA NA NA NA rs8124995 0.56 0.56 0.608 0.565895 0.4761 0.5119 0.3876 0.8684 0.4315 0.5 0.48 0.43 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034083 NA NA NA NA NA 0.674 NA 3.5239 1300 20 45811860 45811860 A G intronic EYA2 NA NA NA intronic ENSG00000064655 NA NA NA NA NA 20q13.12 NA NA NA NA rs8124918 0.56 0.56 0.597 0.564097 0.4761 0.5119 0.3876 0.8654 0.4264 0.5 0.48 0.43 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891793 NA NA NA NA NA 0.674 NA 3.5239 1300 20 50238545 50238545 A G intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs2235862 0.46 0.46 0.434 0.47504 0.4761 0.2262 0.5994 0.6551 0.3988 0.47 0.27 0.56 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432972 NA NA NA NA NA 0.362 NA 3.5239 1300 3 10085130 10085130 C G intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA NA NA NA rs9809061 0.21 0.21 0.204 0.211661 0.1392 0.0486 0.1671 0.4713 0.135 0.14 0.07 0.18 0.48 0.1758 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178124 NA NA 0.161234 0.404031 NA 0.362 NA 3.523766 1300 1 145301697 145301697 C T intronic NBPF10,NBPF9 NA NA NA intronic ENSG00000163386,ENSG00000255168 NA NA NA NA NA 1q21.1 NA NA NA NA rs61814640 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158826 NA NA NA NA NA NA NA 3.523 1300 4 70152685 70152685 C G intronic UGT2B28 NA NA NA intronic ENSG00000135226 NA NA NA NA NA 4q13.2 NA NA NA NA rs4386668 0.4 0.4 0.399 0.385383 0.4771 0.381 0.4553 0.3003 0.3609 0.49 0.37 0.43 0.26 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439152 NA NA NA NA ID=COSN167235;OCCURENCE=1(large_intestine) 0.42 NA 3.5229 1300 6 155109309 155109309 G A intronic SCAF8 NA NA NA intronic ENSG00000213079 NA NA NA NA NA 6q25.2 NA NA NA NA rs9322479 0.69 0.69 0.718 0.746406 0.4771 0.9087 0.5922 0.941 0.7025 0.46 0.91 0.57 0.9 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77923 NA NA NA NA NA 0.601 NA 3.5229 1300 9 140392494 140392494 T C intronic PNPLA7 NA NA NA intronic ENSG00000130653 NA NA NA NA NA 9q34.3 NA NA NA NA rs4962232 0.54 0.54 0.535 0.503195 0.4771 0.6637 0.4654 0.4781 0.4254 0.49 0.68 0.47 0.5 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551475 NA NA NA NA NA 0.457 NA 3.5229 1300 14 23851874 23851874 A G intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs178636 0.47 0.47 0.474 0.448682 0.4771 0.2599 0.3501 0.6172 0.456 0.49 0.29 0.41 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177075 NA NA NA NA NA 0.399 NA 3.5229 1300 17 4720131 4720131 C G intronic PLD2 NA NA NA intronic ENSG00000129219 NA NA NA NA NA 17p13.2 NA NA NA NA rs2302325 0.51 0.51 0.523 0.517772 0.4771 0.4067 0.4683 0.7784 0.3569 0.44 0.41 0.46 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.985259 NA NA NA NA NA 0.522 NA 3.5229 1300 19 52383569 52383569 A C intronic ZNF577 NA NA NA intronic ENSG00000161551 NA NA NA NA NA 19q13.41 NA NA NA NA rs8110461 0.24 0.24 0.224 0.308706 0.1412 0.3046 0.2262 0.385 0.4407 0.13 0.3 0.25 0.33 0.2143 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.495543 NA NA 0.122093 0.352928 NA 0.203 NA 3.522407 1300 19 52383556 52383556 C A intronic ZNF577 NA NA NA intronic ENSG00000161551 NA NA NA NA NA 19q13.41 NA NA NA NA rs8110546 0.24 0.24 0.22 0.308706 0.1412 0.3046 0.2262 0.385 0.4407 0.13 0.3 0.25 0.33 0.2143 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.8049 NA NA 0.122209 0.353155 NA 0.203 NA 3.522291 1300 3 10084224 10084224 C T intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA NA NA NA rs9879080 0.21 0.21 0.216 0.210663 0.1392 0.0466 0.1671 0.4697 0.1339 0.15 0.07 0.19 0.47 0.1743 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619229 NA NA 0.164302 0.425102 NA 0.362 NA 3.522198 1300 11 43908104 43908104 T G intronic ALKBH3 NA NA NA intronic ENSG00000166199 NA NA NA NA NA 11p11.2 NA NA NA NA rs3740983 0.26 0.26 0.23 0.275559 0.2366 0.2391 0.4236 0.1377 0.4346 0.25 0.27 0.41 0.15 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251337 NA NA 0.241346 0.169643 NA 0.268 NA 3.522054 1300 5 132159520 132159520 T A intronic SHROOM1 NA NA NA intronic ENSG00000164403 NA NA NA NA NA 5q31.1 NA NA NA NA rs66542366 0.24 0.24 0.235 0.251997 0.1412 0.253 0.1239 0.4501 0.1881 0.14 0.25 0.14 0.45 0.1879 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346631 NA NA 0.148941 0.391512 NA 0.29 NA 3.521959 1300 4 26491156 26491156 G A intronic CCKAR NA NA NA intronic ENSG00000163394 NA NA NA NA NA 4p15.2 NA NA NA NA rs6850415 0.09 0.09 0.076 0.0832668 0.171 0.0099 0.1095 0.028 0.1247 0.17 0.01 0.13 0.02 0.1346 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715557 NA NA 0.172442 0.051067 NA 0.065 NA 3.521958 1300 3 125833260 125833260 C T intronic ALDH1L1 NA NA NA intronic ENSG00000144908 NA NA NA NA NA 3q21.3 NA NA NA NA rs2290053 0.43 0.43 0.437 0.430112 0.4781 0.3651 0.402 0.4917 0.3845 0.47 0.34 0.43 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443797 NA NA NA NA NA 0.406 NA 3.5219 1300 5 110491533 110491533 C T intergenic WDR36,CAMK4 dist=25333;dist=68414 NA NA ncRNA_exonic ENSG00000250728 NA NA NA NA NA 5q22.1 NA NA NA NA rs252873 0.38 0.38 0.338 0.384385 0.4781 0.2738 0.5029 0.295 0.4387 0.47 0.24 0.5 0.3 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.995747 NA NA NA NA NA 0.37 NA 3.5219 1300 11 72302191 72302191 C G intronic PDE2A NA NA NA intronic ENSG00000186642 NA NA NA NA NA 11q13.4 NA NA NA NA rs429075 0.66 0.66 0.654 0.674321 0.4781 0.755 0.6772 0.8011 0.6196 0.49 0.78 0.62 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.558819 2.558819 NA NA NA NA 0.616 NA 3.5219 1300 11 121414550 121414550 G A intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA NA NA rs682021 0.47 0.47 0.447 0.449081 0.4781 0.5536 0.4697 0.3359 0.4499 0.47 0.56 0.48 0.33 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55544 NA NA NA NA NA 0.507 NA 3.5219 1300 15 81180981 81180981 G A intronic KIAA1199 NA NA NA intronic ENSG00000103888 NA NA NA NA NA 15q25.1 NA NA NA NA rs8028511 0.36 0.36 0.366 0.35623 0.4781 0.2202 0.2421 0.4266 0.3569 0.49 0.2 0.25 0.44 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677475 NA NA NA NA NA 0.341 NA 3.5219 1300 22 29957321 29957321 G A intronic NIPSNAP1 NA NA NA intronic ENSG00000184117 NA NA NA NA NA 22q12.2 NA NA NA NA rs6361 0.47 0.47 0.467 0.546526 0.4781 0.2708 0.6095 0.6838 0.6708 0.48 0.26 0.58 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484169 NA NA NA NA NA 0.428 NA 3.5219 1300 4 42025284 42025284 A G intronic SLC30A9 NA NA NA intronic ENSG00000014824 NA NA NA NA NA 4p13 NA NA NA NA rs4861153 0.21 0.21 0.227 0.243011 0.1551 0.0387 0.147 0.587 0.1472 0.14 0.03 0.16 0.56 0.1718 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161668 NA NA 0.151279 0.534044 NA 0.254 NA 3.521821 1300 8 6478960 6478960 C G intronic MCPH1 NA NA NA ncRNA_exonic ENSG00000249898 NA NA NA NA NA 8p23.1 NA NA NA NA rs11137040 0.22 0.22 0.209 0.203075 0.2873 0.0714 0.1585 0.2375 0.2372 0.29 0.07 0.19 0.28 0.2482 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594753 NA NA 0.276515 0.234159 NA 0.384 NA 3.5213183 1300 2 220047393 220047393 C T UTR3 FAM134A NM_024293:c.*42C>T NA NA UTR3 ENSG00000144567 ENST00000430297:c.*42C>T,ENST00000273048:c.*1049C>T,ENST00000420189:c.*42C>T NA NA Score=329;Name=lod=29 NA 2q35 NA NA NA NA rs3731901 0.43 0.43 0.414 0.403155 0.6372 0.2331 0.3991 0.2315 0.5726 0.65 0.25 0.45 0.27 0.5504 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.710649 3.710649 NA 0.624651 0.285747 NA 0.478 NA 3.5210824 1300 9 79328461 79328461 G A intronic PRUNE2 NA NA NA intronic ENSG00000106772 NA NA NA NA NA 9q21.2 NA NA NA NA rs9785303 0.26 0.26 0.246 0.236621 0.1541 0.4643 0.1614 0.2073 0.18 0.15 0.5 0.14 0.22 0.2018 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771992 NA NA 0.123116 0.199298 NA 0.167 NA 3.520984 1300 1 16359827 16359827 A G intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs3738633 0.58 0.58 0.555 0.590455 0.4791 0.7569 0.402 0.6581 0.5757 0.47 0.74 0.43 0.66 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046007 NA NA NA NA NA 0.478 NA 3.5209 1300 2 160182074 160182074 T A intronic BAZ2B NA NA NA intronic ENSG00000123636 NA NA NA NA NA 2q24.2 NA NA NA NA rs440241 0.7 0.7 0.71 0.757188 0.4791 0.9494 0.7089 0.7693 0.863 0.49 0.95 0.66 0.78 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266486 NA NA NA NA NA 0.601 NA 3.5209 1300 3 12560763 12560763 A T intronic TSEN2 NA NA NA intronic ENSG00000154743 NA NA NA NA NA 3p25.2 NA NA NA NA rs1618545 0.42 0.42 0.453 0.370208 0.4791 0.1091 0.3703 0.6392 0.1636 0.49 0.11 0.43 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388396 NA NA NA NA NA 0.471 NA 3.5209 1300 6 155124583 155124583 T G intronic SCAF8 NA NA NA intronic ENSG00000213079 NA NA NA NA NA 6q25.2 NA NA NA NA rs3757291 0.68 0.68 0.715 0.729832 0.4791 0.9087 0.5908 0.8767 0.7035 0.46 0.91 0.56 0.84 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207384 NA NA NA NA NA 0.58 NA 3.5209 1300 8 113254073 113254073 G A intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs1007815 NA NA NA 0.561701 0.4791 0.5556 0.4654 0.7632 0.4489 NA NA NA NA NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.203199 NA NA NA NA NA 0.29 NA 3.5209 1300 9 95647120 95647120 T C intergenic ZNF484,FGD3 dist=6800;dist=62481 NA NA ncRNA_intronic ENSG00000187984,ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs12685086 0.59 0.59 0.578 0.586062 0.4791 0.6181 0.5663 0.7579 0.4448 0.46 0.62 0.6 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582173 NA NA NA NA NA 0.514 NA 3.5209 1300 9 95647527 95647527 C A intergenic ZNF484,FGD3 dist=7207;dist=62074 NA NA ncRNA_exonic ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs1966189 0.59 0.59 0.572 0.585863 0.4791 0.6181 0.5663 0.7572 0.4448 0.46 0.62 0.6 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.634397 NA NA NA NA NA 0.522 NA 3.5209 1300 9 95647974 95647974 G C intergenic ZNF484,FGD3 dist=7654;dist=61627 NA NA ncRNA_exonic ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs2281715 0.59 0.59 0.56 0.585863 0.4791 0.6181 0.5663 0.7572 0.4448 0.47 0.62 0.6 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939166 NA NA NA NA NA 0.507 NA 3.5209 1300 9 95648441 95648441 C T intergenic ZNF484,FGD3 dist=8121;dist=61160 NA NA ncRNA_exonic ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs2281717 0.57 0.57 0.53 0.557508 0.4791 0.6181 0.5576 0.6543 0.4448 0.46 0.62 0.59 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886794 NA NA NA NA NA 0.275 NA 3.5209 1300 15 31089526 31089526 A G intergenic LOC100288637,HERC2P10 dist=24317;dist=20713 NA NA ncRNA_exonic ENSG00000103832 NA NA NA NA NA 15q13.2 NA NA NA NA rs798088 0.45 0.45 0.421 0.47524 0.4791 0.1627 0.4539 0.792 0.3804 0.47 0.13 0.43 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360488 NA NA NA NA NA 0.362 NA 3.5209 1300 16 21728129 21728129 G T intronic OTOA NA NA NA intronic ENSG00000155719 NA NA NA NA NA 16p12.2 NA NA NA NA rs215904 0.35 0.35 NA 0.366014 0.4791 0.1786 0.3746 0.3631 0.4407 0.47 0.13 0.39 0.37 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504537 NA NA NA NA NA 0.42 NA 3.5209 1300 17 20884868 20884868 C T intergenic CCDC144NL,USP22 dist=85415;dist=18038 NA NA ncRNA_exonic ENSG00000233098,ENSG00000264660,ENSG00000266009 NA NA NA NA NA 17p11.2 NA NA NA NA rs11654680 0.43 0.43 0.419 0.429712 0.4791 0.4673 0.3646 0.2995 0.5624 0.48 0.51 0.35 0.33 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152028 NA NA NA NA NA 0.355 NA 3.5209 1300 X 77276413 77276413 C A intronic ATP7A NA NA NA intronic ENSG00000165240 NA NA NA NA NA Xq21.1 NA NA NA NA rs113968994 0.29 0.29 0.30763 NA NA NA NA NA NA 0.24 0.29 0.22 0.42 0.2542 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.252908 NA NA 0.2249 0.356975 NA 0.203 NA 3.5209 1300 3 124485235 124485235 A G intronic ITGB5 NA NA NA intronic ENSG00000082781 NA NA NA NA NA 3q21.2 NA NA NA NA rs2291081 0.16 0.16 0.122 0.16853 0.1431 0.1637 0.2594 0.1331 0.183 0.13 0.18 0.23 0.13 0.1751 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.144815 2.144815 NA 0.161047 0.135951 NA 0.174 NA 3.520753 1300 6 90453263 90453263 A G intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs2273246 0.11 0.11 NA 0.153754 0.1869 0.0813 0.1225 0.0779 0.319 0.17 0.07 0.11 0.08 0.1738 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664628 NA NA 0.118605 0.051975 NA NA NA 3.520695 1300 3 52815905 52815905 T C intronic ITIH1 NA NA NA intronic ENSG00000055957 NA NA NA NA NA 3p21.1 NA NA Name=6 NA rs2710323 0.56 0.56 0.577 0.521765 0.505 0.4147 0.6009 0.7216 0.3231 0.51 0.47 0.62 0.68 0.4884 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.854508 NA NA 0.486279 0.660009 NA 0.551 NA 3.520321 1300 19 10432334 10432334 T G intronic RAVER1 NA NA NA intronic ENSG00000161847 NA NA NA NA NA 19p13.2 NA NA NA NA rs12983649 0.16 0.16 0.132 0.171925 0.1571 0.1974 0.3156 0.0575 0.2137 0.16 0.22 0.25 0.03 0.1844 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718268 NA NA 0.138252 0.065764 NA 0.145 NA 3.520248 1300 7 140706157 140706157 G T UTR3 MRPS33 NM_053035:c.*73C>A,NM_016071:c.*73C>A NA NA UTR3 ENSG00000090263 ENST00000393008:c.*73C>A,ENST00000324787:c.*73C>A,ENST00000469351:c.*73C>A,ENST00000496958:c.*73C>A,ENST00000467334:c.*73C>A NA NA NA NA 7q34 NA NA NA NA rs6662 0.89 0.89 0.879 0.890375 0.8131 0.9038 0.9107 0.9584 0.8497 0.82 0.92 0.9 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593073 NA NA NA NA NA 0.913 NA 3.5202334 1300 2 20160250 20160250 G C intronic WDR35 NA NA NA intronic ENSG00000118965 NA NA NA NA NA 2p24.1 NA NA NA NA rs12996974 0.25 0.25 0.259 0.229034 0.2247 0.2292 0.2262 0.2617 0.1912 0.23 0.27 0.22 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.100646 2.100646 NA 0.255089 0.240955 NA 0.152 NA 3.520211 1300 13 59104084 59104084 G C intergenic PCDH17,DIAPH3 dist=801019;dist=1135637 NA NA ncRNA_exonic ENSG00000214335 NA NA NA NA NA 13q21.1 NA NA NA NA rs9538095 0.32 0.32 0.277 0.291933 0.4801 0.3294 0.3401 0.0514 0.3507 0.47 0.3 0.38 0.06 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837708 NA NA NA NA NA 0.225 NA 3.5199 1300 1 16359106 16359106 C T intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs10803408 0.58 0.58 0.602 0.591853 0.4801 0.7599 0.402 0.6581 0.5787 0.47 0.74 0.43 0.66 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12825 NA NA NA NA NA 0.543 NA 3.5199 1300 7 97920270 97920270 T C intronic BRI3 NA NA NA intronic ENSG00000164713 NA NA NA NA NA 7q21.3 NA NA NA NA rs7778015 NA NA NA 0.28734 0.4801 0.2688 0.3516 0.2163 0.1585 NA NA NA NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602168 NA NA NA NA NA 0.268 NA 3.5199 1300 8 132002576 132002576 G A intronic ADCY8 NA NA NA intronic ENSG00000155897 NA NA NA NA NA 8q24.22 NA NA NA NA rs1329803 0.68 0.68 0.666 0.697085 0.4801 0.8651 0.5403 0.8722 0.6217 0.49 0.87 0.55 0.85 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182022 NA NA NA NA NA 0.572 NA 3.5199 1300 9 4117713 4117713 C T intronic GLIS3 NA NA NA intronic ENSG00000107249 NA NA NA NA NA 9p24.2 NA NA NA NA rs927315 0.38 0.38 0.366 0.411941 0.4801 0.3333 0.3919 0.2799 0.6155 0.49 0.3 0.44 0.29 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41038 NA NA NA NA NA 0.362 NA 3.5199 1300 10 50863623 50863623 A G intronic CHAT NA NA NA intronic ENSG00000070748 NA NA NA NA NA 10q11.23 NA NA NA NA rs7094421 0.37 0.37 0.379 0.354034 0.4801 0.1042 0.3963 0.4788 0.2832 0.49 0.13 0.4 0.44 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725285 NA NA NA NA NA 0.37 NA 3.5199 1300 3 10119917 10119917 T C intronic FANCD2 NA NA NA intronic ENSG00000144554 NA NA NA NA NA 3p25.3 NA NA NA NA rs6805869 0.21 0.21 0.225 0.211462 0.1412 0.0486 0.1671 0.469 0.135 0.15 0.07 0.19 0.47 0.175 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078982 NA NA 0.163953 0.424875 NA 0.362 NA 3.519847 1300 2 187519338 187519338 G T intronic ITGAV NA NA NA ncRNA_intronic ENSG00000227227 NA NA NA NA NA 2q32.1 NA NA NA NA rs9333290 0.16 0.16 0.12 0.148363 0.2962 0.0427 0.2205 0.0083 0.2434 0.31 0.03 0.22 0.01 0.244 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437507 NA NA 0.273406 0.051434 NA 0.109 NA 3.5197273 1300 16 50348409 50348409 A T intronic ADCY7 NA NA NA UTR3 ENSG00000166164 ENST00000562383:c.*1470T>A NA NA NA NA 16q12.1 NA NA NA NA rs9926131 0.41 0.41 0.371 0.402157 0.6471 0.2044 0.4914 0.211 0.5491 0.64 0.21 0.51 0.21 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466188 NA NA NA NA NA 0.529 NA 3.5195667 1300 6 24418854 24418854 T C intronic MRS2 NA NA NA intronic ENSG00000124532 NA NA NA NA NA 6p22.3 NA NA NA NA rs45590133 0.13 0.13 0.115 0.113019 0.1938 0.1478 0.0965 0.0038 0.1534 0.2 0.16 0.09 0.01 0.1449 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62883 NA NA 0.142093 0.029091 NA 0.094 NA 3.519207 1300 19 18324329 18324329 C T intronic PDE4C NA NA NA ncRNA_intronic ENSG00000268650 NA NA NA NA NA 19p13.11 NA NA NA NA rs2302209 0.19 0.19 0.185 0.165735 0.2863 0.0605 0.2133 0.1619 0.1217 0.28 0.06 0.23 0.15 0.2492 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78662 NA NA 0.278721 0.172946 NA 0.217 NA 3.5191123 1300 1 1163804 1163804 C T intronic SDF4 NA NA NA intronic ENSG00000078808 NA NA NA NA NA 1p36.33 NA NA NA NA rs7515488 0.19 0.19 0.17 0.186901 0.1461 0.1835 0.1599 0.2368 0.184 0.16 0.21 0.14 0.25 0.191 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135693 NA NA 0.14389 0.207612 NA 0.225 NA 3.51901 1300 15 28517539 28517539 G A intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA NA NA NA rs80340439 NA NA 0.19 NA NA NA NA NA NA NA NA NA NA 0.481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16105 NA NA NA NA NA NA NA 3.519 1300 3 183801649 183801649 G C intergenic HTR3C,HTR3E dist=23188;dist=13203 NA NA ncRNA_exonic ENSG00000233576 NA NA NA NA NA 3q27.1 NA NA NA NA rs7610048 0.55 0.55 0.524 0.509185 0.4811 0.7282 0.5231 0.4644 0.363 0.48 0.74 0.54 0.44 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549041 NA NA NA NA ID=COSN167104;OCCURENCE=1(large_intestine) 0.5 NA 3.5189 1300 7 87138511 87138511 G A intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs2235048 0.6 0.6 0.622 0.602436 0.4811 0.6012 0.5634 0.8502 0.4213 0.47 0.6 0.53 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591686 NA NA NA NA NA 0.587 NA 3.5189 1300 15 31090601 31090601 T C intergenic LOC100288637,HERC2P10 dist=25392;dist=19638 NA NA ncRNA_exonic ENSG00000103832 NA NA NA NA NA 15q13.2 NA NA NA NA rs1852033 0.44 0.44 0.414 0.47524 0.4811 0.1607 0.4539 0.7927 0.3793 0.47 0.13 0.43 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357833 NA NA NA NA NA 0.326 NA 3.5189 1300 16 55539191 55539191 C G intronic MMP2 NA NA NA intronic ENSG00000087245 NA NA NA NA NA 16q12.2 NA NA NA NA rs243832 0.52 0.52 0.506 0.532149 0.4811 0.6409 0.4352 0.5015 0.5828 0.46 0.64 0.46 0.51 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848133 NA NA NA NA NA 0.58 NA 3.5189 1300 17 42005060 42005060 A C intergenic FAM215A,PPY dist=9705;dist=13112 NA NA ncRNA_exonic ENSG00000267420 NA NA NA NA NA 17q21.31 NA NA NA NA rs1642610 0.29 0.29 0.24 0.247204 0.4811 0.1716 0.3213 0.0953 0.2372 0.49 0.14 0.35 0.1 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426644 NA NA NA NA NA 0.217 NA 3.5189 1300 19 45571903 45571903 G C intronic CLASRP NA NA NA intronic ENSG00000104859 NA NA NA NA NA 19q13.32 NA NA NA NA rs36097205 0.38 0.38 NA 0.329073 0.4811 0.4028 0.3761 0.1823 0.2618 0.48 0.41 0.39 0.18 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826 NA NA NA NA NA NA NA 3.5189 1300 11 60776333 60776333 C T intronic CD6 NA NA NA intronic ENSG00000013725 NA NA NA NA NA 11q12.2 NA NA NA NA rs72926536 0.1 0.1 0.065 0.0686901 0.1948 0.001 0.121 0.0091 0.0521 0.2 0.0017 0.14 0.02 0.1399 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304839 NA NA 0.146455 0.026051 NA NA NA 3.518845 1300 6 154535444 154535444 A G intronic IPCEF1,OPRM1 NA NA NA intronic ENSG00000074706,ENSG00000112038 NA NA NA NA NA 6q25.2 NA NA NA NA rs2293537 0.19 0.19 0.193 0.192692 0.171 0.2113 0.121 0.1982 0.2393 0.16 0.22 0.15 0.22 0.1625 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11096 NA NA 0.147791 0.19133 NA 0.188 NA 3.518709 1300 19 54240015 54240015 C T upstream MIR516B1 NA NA NA upstream ENSG00000207946 NA NA NA NA NA 19q13.42 NA NA NA NA rs73053529 0.08 0.08 0.083 0.0814696 0.1481 0.0317 0.0576 0.0197 0.1646 0.15 0.02 0.07 0.04 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.984266 NA NA NA NA NA 0.196 NA 3.5185666 1300 3 109052934 109052934 G A intronic DPPA4 NA NA NA intronic ENSG00000121570 NA NA NA NA NA 3q13.13 NA NA NA NA rs7642495 0.49 0.49 0.466 0.483826 0.4821 0.751 0.4697 0.2231 0.5726 0.47 0.73 0.46 0.27 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689631 NA NA NA NA NA 0.304 NA 3.5179 1300 3 183801248 183801248 A G intergenic HTR3C,HTR3E dist=22787;dist=13604 NA NA ncRNA_exonic ENSG00000233576 NA NA NA NA NA 3q27.1 NA NA NA NA rs7429958 0.63 0.63 0.638 0.583866 0.4821 0.7421 0.572 0.711 0.362 0.48 0.76 0.58 0.73 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661373 NA NA NA NA NA 0.609 NA 3.5179 1300 3 183801541 183801541 G C intergenic HTR3C,HTR3E dist=23080;dist=13311 NA NA ncRNA_intronic ENSG00000233576 NA NA NA NA NA 3q27.1 NA NA NA NA rs9826114 0.57 0.57 0.541 0.544728 0.4821 0.7292 0.5303 0.6021 0.3517 0.48 0.74 0.55 0.54 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205947 NA NA NA NA NA 0.543 NA 3.5179 1300 9 27202726 27202726 A T intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs550722 0.4 0.4 0.016 0.414137 0.4821 0.3978 0.5086 0.3336 0.4029 0.46 0.39 0.48 0.27 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332592 NA NA NA NA NA NA NA 3.5179 1300 11 122489595 122489595 G A intergenic MIR100HG,UBASH3B dist=415825;dist=36803 NA NA ncRNA_exonic ENSG00000254935 NA NA NA NA NA 11q24.1 NA NA NA NA rs1308 0.52 0.52 0.504 0.517372 0.4821 0.624 0.4841 0.5182 0.4663 0.46 0.64 0.46 0.51 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402233 NA NA NA NA NA 0.442 NA 3.5179 1300 15 70344616 70344616 A G intronic TLE3 NA NA NA intronic ENSG00000140332 NA NA NA NA NA 15q23 NA NA NA NA rs3743310 0.35 0.35 0.34 0.366414 0.4821 0.256 0.4784 0.236 0.4581 0.47 0.25 0.46 0.22 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932581 NA NA NA NA NA 0.435 NA 3.5179 1300 20 31676622 31676622 G T intronic BPIFB4 NA NA NA intronic ENSG00000186191 NA NA NA NA NA 20q11.21 NA NA NA NA rs2424949 0.62 0.62 0.608 0.614617 0.4821 0.7996 0.5504 0.6324 0.5818 0.49 0.81 0.53 0.65 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952797 NA NA NA NA NA 0.601 NA 3.5179 1300 5 64447777 64447777 C T intronic ADAMTS6 NA NA NA intronic ENSG00000049192 NA NA NA NA NA 5q12.3 NA NA Name=40 NA rs17206779 0.4 0.4 0.355 0.377196 0.4911 0.3859 0.5231 0.1664 0.4325 0.48 0.4 0.53 0.17 0.4777 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.808054 NA NA 0.513837 0.229687 NA 0.42 NA 3.517363 1300 1 176999917 176999917 G A intronic ASTN1 NA NA NA intronic ENSG00000152092 NA NA NA NA NA 1q25.2 NA NA NA NA rs12568439 0.15 0.15 0.15 0.148962 0.1471 0.256 0.2104 0.0272 0.1616 0.15 0.23 0.2 0.03 0.169 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453697 NA NA 0.166628 0.051748 NA 0.109 NA 3.517272 1300 12 42749072 42749072 T C intronic PPHLN1 NA NA NA intronic ENSG00000134283 NA NA NA NA NA 12q12 NA NA NA NA rs17091102 0.18 0.18 0.173 0.18151 0.165 0.1498 0.219 0.1861 0.1984 0.16 0.17 0.23 0.18 0.1659 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38458 NA NA 0.151977 0.183386 NA 0.145 NA 3.517123 1300 7 944683 944683 C T intronic ADAP1 NA NA NA intronic ENSG00000105963,ENSG00000240230 NA NA NA NA NA 7p22.3 NA Name=FOSL1_(SC-183),CEBPB,eGFP-FOS Name=48 NA rs1881121 0.91 0.91 0.898 0.897364 0.8131 1 0.8775 0.9501 0.8211 0.81 1 0.87 0.97 0.8541 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054022 NA NA 0.815765 0.924027 NA 0.92 NA 3.517035 1300 13 61986918 61986918 C A exonic PCDH20 NA synonymous SNV PCDH20:NM_022843:exon2:c.G1314T:p.V438V exonic ENSG00000197991 NA synonymous SNV ENSG00000197991:ENST00000409204:exon2:c.G1314T:p.V438V,ENSG00000197991:ENST00000409186:exon5:c.G1314T:p.V438V NA NA 13q21.2 NA NA NA NA rs3812872 0.79 0.79 0.774 0.802316 0.6938 0.9226 0.8285 0.7352 0.862 0.7 0.92 0.81 0.76 0.749 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773857 NA NA 0.70686 0.739219 NA 0.761 NA 3.5170066 1300 6 335251 335251 T C intronic DUSP22 NA NA NA intronic ENSG00000112679 NA NA NA NA NA 6p25.3 NA NA NA NA rs3757305 NA NA 0.39 0.484225 0.4831 0.4663 0.4755 0.4977 0.4918 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039561 NA NA NA NA NA NA NA 3.5169 1300 6 335253 335253 T C intronic DUSP22 NA NA NA intronic ENSG00000112679 NA NA NA NA NA 6p25.3 NA NA NA NA rs3757306 NA NA 0.39 0.484225 0.4831 0.4663 0.4755 0.4977 0.4918 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035193 NA NA NA NA NA NA NA 3.5169 1300 6 27220890 27220890 A G intronic PRSS16 NA NA NA intronic ENSG00000112812 NA NA NA NA NA 6p22.1 NA NA NA NA rs2295603 0.51 0.51 0.523 0.528754 0.4831 0.2748 0.4438 0.9138 0.3773 0.47 0.26 0.46 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397937 NA NA NA NA NA 0.558 NA 3.5169 1300 6 33656654 33656654 C G intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs11759396 0.53 0.53 0.475 0.555511 0.4831 0.8998 0.598 0.1339 0.8149 0.49 0.88 0.6 0.14 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065017 NA NA NA NA NA 0.5 NA 3.5169 1300 7 899710 899710 A C intronic SUN1 NA NA NA intronic ENSG00000164828 NA NA NA NA NA 7p22.3 NA NA NA NA rs12700166 0.52 0.52 0.513 0.50639 0.4831 0.6468 0.4323 0.4667 0.4918 0.49 0.64 0.41 0.5 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.7875 NA NA NA NA NA 0.522 NA 3.5169 1300 9 35559905 35559905 T C intronic RUSC2 NA NA NA intronic ENSG00000198853 NA NA NA NA NA 9p13.3 NA NA NA NA rs12338773 0.39 0.39 0.362 0.35623 0.4831 0.2877 0.6037 0.2284 0.2935 0.47 0.29 0.61 0.23 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492056 NA NA NA NA NA 0.413 NA 3.5169 1300 9 138518114 138518114 G A intronic GLT6D1 NA NA NA intronic ENSG00000204007 NA NA NA NA NA 9q34.3 NA NA NA NA rs11103106 0.53 0.53 0.528 0.522564 0.4831 0.5982 0.5317 0.4289 0.6053 0.48 0.65 0.52 0.45 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330003 NA NA NA NA NA 0.551 NA 3.5169 1300 17 38068514 38068514 T C intronic GSDMB NA NA NA intronic ENSG00000073605 NA NA NA NA NA 17q12 NA NA NA NA rs1011082 0.6 0.6 0.591 0.637979 0.4831 0.7103 0.621 0.7156 0.6299 0.48 0.68 0.61 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80334 NA NA NA NA NA 0.616 NA 3.5169 1300 17 75485014 75485014 A C intronic SEPT9 NA NA NA intronic ENSG00000184640 NA NA NA NA NA 17q25.3 NA NA NA NA rs426885 0.55 0.55 0.592 0.548722 0.4831 0.4931 0.4078 0.8048 0.4274 0.48 0.49 0.44 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422155 NA NA NA NA NA 0.399 NA 3.5169 1300 20 54940356 54940356 T C intronic FAM210B NA NA NA intronic ENSG00000124098 NA NA NA NA NA 20q13.2 NA NA NA NA rs17362970 0.11 0.11 0.103 0.095647 0.1859 NA 0.1196 0.0749 0.1125 0.18 NA 0.14 0.1 0.1346 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260435 NA NA 0.162791 0.066954 NA 0.08 NA 3.516709 1300 8 22428751 22428751 C G intronic SORBS3 NA NA NA intronic ENSG00000120896 NA NA NA NA NA 8p21.3 NA NA NA NA rs55893847 0.11 0.11 0.095 0.120008 0.1809 0.0278 0.1268 0.0772 0.2055 0.19 0.03 0.12 0.07 0.1572 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032465 NA NA 0.145548 0.08293 NA 0.109 NA 3.516352 1300 14 95556747 95556747 A T UTR3 DICER1 NM_177438:c.*88T>A,NM_001195573:c.*204T>A,NM_030621:c.*88T>A,NM_001271282:c.*88T>A NA NA UTR3 ENSG00000100697 ENST00000526495:c.*88T>A,ENST00000343455:c.*88T>A,ENST00000393063:c.*88T>A,ENST00000527414:c.*88T>A NA NA NA NA 14q32.13 NA NA NA NA rs13078 0.89 0.89 0.897 0.908946 0.8171 0.9573 0.8847 0.9319 0.9397 0.81 0.96 0.87 0.94 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611848 NA NA NA NA NA 0.812 NA 3.5162334 1300 5 102886512 102886512 T C UTR3 NUDT12 NM_031438:c.*50A>G NA NA UTR3 ENSG00000112874 ENST00000230792:c.*50A>G,ENST00000507423:c.*50A>G NA NA NA NA 5q21.2 NA NA NA NA rs58006145 0.25 0.25 0.24 0.246406 0.2724 0.246 0.17 0.23 0.2965 0.28 0.22 0.21 0.25 0.2646 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5776 NA NA 0.280247 0.215615 NA 0.225 NA 3.5160864 1300 3 69053447 69053447 A T intronic EOGT NA NA NA intronic ENSG00000163378 NA NA NA NA NA 3p14.1 NA NA NA NA rs9860095 0.37 0.37 0.35 0.350839 0.4841 0.1062 0.4582 0.4092 0.3108 0.48 0.12 0.44 0.43 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.550508 2.550508 NA NA NA NA 0.413 NA 3.5159 1300 3 156175167 156175167 G A intronic KCNAB1 NA NA NA intronic ENSG00000169282 NA NA NA NA NA 3q25.31 NA NA NA NA rs2293194 0.39 0.39 0.486 0.507987 0.4841 0.5367 0.3559 0.5386 0.5695 0.38 0.45 0.32 0.39 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003307 NA NA NA NA NA NA NA 3.5159 1300 3 156175168 156175168 G A intronic KCNAB1 NA NA NA intronic ENSG00000169282 NA NA NA NA NA 3q25.31 NA NA NA NA rs2293195 0.4 0.4 0.486 0.507987 0.4841 0.5367 0.3559 0.5386 0.5695 0.38 0.46 0.32 0.4 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169406 NA NA NA NA NA NA NA 3.5159 1300 4 103651962 103651962 A C intronic MANBA NA NA NA intronic ENSG00000109323 NA NA NA NA NA 4q24 NA NA NA NA rs223498 0.59 0.59 0.582 0.609824 0.4841 0.503 0.6225 0.8865 0.4663 0.47 0.47 0.6 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435835 NA NA NA NA NA 0.725 NA 3.5159 1300 7 30660938 30660938 A C intronic GARS NA NA NA intronic ENSG00000106105 NA NA NA NA NA 7p14.3 NA NA NA NA rs10951271 0.36 0.36 0.327 0.319289 0.4841 0.4534 0.464 0.0484 0.2751 0.49 0.4 0.44 0.06 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244677 NA NA NA NA NA 0.246 NA 3.5159 1300 17 45131755 45131755 A G intergenic RPRML,CDC27 dist=75141;dist=63556 NA NA ncRNA_intronic ENSG00000262879,ENSG00000263142 NA NA NA NA NA 17q21.32 NA NA NA NA rs7220777 0.39 0.39 0.309 0.403155 0.4841 0.3036 0.4741 0.3086 0.5 0.5 0.26 0.47 0.32 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208979 NA NA NA NA NA 0.536 NA 3.5159 1300 19 2833576 2833576 G A intronic ZNF554 NA NA NA intronic ENSG00000172006 NA NA NA NA NA 19p13.3 NA NA NA NA rs8107668 0.48 0.48 0.462 0.516573 0.4841 0.5575 0.3948 0.4266 0.7157 0.47 0.56 0.4 0.45 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540998 NA NA NA NA NA 0.536 NA 3.5159 1300 19 2833617 2833617 G A intronic ZNF554 NA NA NA intronic ENSG00000172006 NA NA NA NA NA 19p13.3 NA NA NA NA rs8107771 0.48 0.48 0.47 0.516573 0.4841 0.5575 0.3948 0.4266 0.7157 0.47 0.56 0.4 0.45 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711322 NA NA NA NA NA 0.536 NA 3.5159 1300 3 125649354 125649354 G C intronic ALG1L NA NA NA intronic ENSG00000189366 NA NA NA NA NA 3q21.2 NA NA NA NA rs7616044 0.22 0.22 0.243 0.233826 0.172 0.1071 0.1527 0.4841 0.1472 0.17 0.1 0.17 0.49 0.158 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274377 NA NA 0.154219 0.395441 NA 0.152 NA 3.515781 1300 15 86199049 86199049 C G intronic AKAP13 NA NA NA ncRNA_intronic ENSG00000259367 NA NA NA NA NA 15q25.3 NA NA NA NA rs17635450 0.16 0.16 0.126 0.136182 0.3022 0.0159 0.2262 0.0113 0.1943 0.31 0.02 0.25 0.01 0.2312 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346362 NA NA 0.284202 0.049341 NA 0.225 NA 3.5157313 1300 4 141545397 141545397 A C intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA NA NA 4q31.21 NA NA NA NA rs2291713 0.22 0.22 0.249 0.252196 0.1521 0.1339 0.1556 0.5197 0.184 0.15 0.1 0.19 0.52 0.1923 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354425 NA NA 0.140171 0.448172 ID=COSN167338;OCCURENCE=1(large_intestine) 0.29 NA 3.515429 1300 19 829723 829723 A G intronic AZU1 NA NA NA intronic ENSG00000172232 NA NA NA Score=547;Name=lod=223 NA 19p13.3 NA NA NA NA rs678976 0.59 0.59 0.59 0.63139 0.497 0.4851 0.6052 0.8858 0.5951 0.5 0.45 0.57 0.89 0.529 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332913 NA NA 0.458721 0.810032 NA 0.667 NA 3.515279 1301 2 228734956 228734956 G A intergenic CCL20,DAW1 dist=52676;dist=1371 NA NA ncRNA_exonic ENSG00000183514 NA NA NA NA NA 2q36.3 NA NA NA NA rs12476836 0.48 0.48 0.471 0.5002 0.4851 0.4702 0.647 0.4576 0.5 0.47 0.44 0.62 0.45 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55241 NA NA NA NA NA 0.514 NA 3.5149 1301 2 228735140 228735140 T C intergenic CCL20,DAW1 dist=52860;dist=1187 NA NA ncRNA_exonic ENSG00000183514 NA NA NA NA NA 2q36.3 NA NA NA NA rs34862621 0.49 0.49 0.461 0.509185 0.4851 0.4702 0.647 0.4917 0.5 0.47 0.44 0.62 0.48 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261829 NA NA NA NA NA 0.457 NA 3.5149 1301 2 228735186 228735186 T C intergenic CCL20,DAW1 dist=52906;dist=1141 NA NA ncRNA_exonic ENSG00000183514 NA NA NA NA NA 2q36.3 NA NA NA NA rs61343551 0.49 0.49 0.465 0.509185 0.4851 0.4702 0.647 0.4917 0.5 0.47 0.44 0.62 0.48 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147074 NA NA NA NA NA 0.507 NA 3.5149 1301 6 33659793 33659793 G A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296742 0.56 0.56 0.516 0.579673 0.4851 0.8998 0.6138 0.2156 0.8149 0.49 0.88 0.62 0.24 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01617 NA NA NA NA NA 0.536 NA 3.5149 1301 8 143994944 143994944 T G intronic CYP11B2 NA NA NA intronic ENSG00000104499,ENSG00000179142 NA NA NA NA NA 8q24.3 NA NA NA NA rs13252628 0.35 0.35 0.315 0.328075 0.4851 0.1577 0.3718 0.2829 0.3722 0.5 0.15 0.43 0.31 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431345 NA NA NA NA NA 0.391 NA 3.5149 1301 10 72434194 72434194 G A intronic ADAMTS14 NA NA NA intronic ENSG00000138316 NA NA NA NA NA 10q22.1 NA NA NA NA rs614201 0.66 0.66 0.664 0.647764 0.4851 0.8403 0.6427 0.73 0.5092 0.5 0.84 0.64 0.74 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.346351 NA NA NA NA NA 0.616 NA 3.5149 1301 11 68840014 68840014 G A intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs3750963 0.35 0.35 0.346 0.298323 0.4851 0.2867 0.3141 0.23 0.1994 0.46 0.28 0.35 0.27 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379903 NA NA NA NA NA 0.268 NA 3.5149 1301 11 68845867 68845867 G A intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs7945151 0.32 0.32 0.284 0.262979 0.4851 0.2867 0.3069 0.0998 0.1994 0.46 0.28 0.35 0.13 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236628 NA NA NA NA NA 0.232 NA 3.5149 1301 20 25196520 25196520 T A intronic ENTPD6 NA NA NA intronic ENSG00000197586 NA NA NA NA NA 20p11.21 NA NA NA NA rs11087505 0.64 0.64 0.645 0.631589 0.4851 0.9117 0.3818 0.7345 0.5317 0.49 0.93 0.43 0.71 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586407 NA NA NA NA NA 0.558 NA 3.5149 1301 13 25373515 25373515 G C intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA NA NA 13q12.12 NA NA NA NA rs12865323 0.16 0.16 0.134 0.139177 0.1382 0.2173 0.2637 0.0061 0.1513 0.15 0.25 0.25 0.01 0.1779 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.038688 2.038688 NA 0.169148 0.032683 NA 0.145 NA 3.514752 1301 12 57926472 57926472 G A intronic DCTN2 NA NA NA intronic ENSG00000175203 NA NA NA NA NA 12q13.3 NA NA NA NA rs703837 0.22 0.22 0.225 0.210863 0.175 0.2768 0.1398 0.2526 0.1738 0.18 0.28 0.14 0.27 0.1694 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.797182 NA NA 0.140998 0.224527 ID=COSN164288;OCCURENCE=1(NS) 0.21 NA 3.514602 1301 1 70226125 70226125 T C intronic LRRC7 NA NA NA intronic ENSG00000033122 NA NA NA NA NA 1p31.1 NA NA NA NA rs12407496 0.16 0.16 0.151 0.173323 0.168 0.1419 0.1888 0.2141 0.1452 0.15 0.14 0.17 0.2 0.1705 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.784359 NA NA 0.146922 0.183204 NA 0.275 NA 3.514578 1301 7 141537968 141537968 A G intronic PRSS37 NA NA NA UTR3 ENSG00000165076 ENST00000419085:c.*806T>C NA NA NA NA 7q34 NA NA NA NA rs11765575 0.38 0.38 0.357 0.376797 0.3012 0.5327 0.4409 0.2648 0.3998 0.31 0.51 0.4 0.29 0.351 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950694 NA NA NA NA NA 0.341 NA 3.5144667 1301 6 24416593 24416593 A G intronic MRS2 NA NA NA intronic ENSG00000124532 NA NA NA NA NA 6p22.3 NA NA NA NA rs75878386 0.13 0.13 0.118 0.113219 0.1938 0.1488 0.0965 0.0038 0.1534 0.2 0.16 0.09 0.01 0.1501 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.808095 NA NA 0.141852 0.028231 NA 0.094 NA 3.514248 1301 19 10418838 10418838 G A intronic ZGLP1 NA NA NA intronic ENSG00000167807,ENSG00000220201,ENSG00000267673 NA NA NA NA NA 19p13.2 NA NA NA NA rs35063123 0.17 0.17 0.156 0.173123 0.1561 0.1964 0.3098 0.0703 0.2086 0.16 0.21 0.25 0.08 0.1831 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640119 NA NA 0.146556 0.079557 NA 0.167 NA 3.514244 1301 8 135612595 135612595 A G ncRNA_exonic ZFAT-AS1 NA NA NA ncRNA_exonic ENSG00000248492 NA NA NA NA NA 8q24.22 NA Name=NFKB,PAX5-C20,TCF12,EBF,Pol2-4H8,Oct-2,EBF1_(C-8),RXRA,TAF1,POU2F2,Pol2,IRF4_(M-17) NA NA rs894343 0.79 0.79 0.762 0.783347 0.6918 0.9067 0.8112 0.7632 0.7577 0.7 0.92 0.78 0.76 0.7532 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2457 NA NA 0.707703 0.780967 NA 0.819 NA 3.5139636 1301 16 2155819 2155819 A C intronic PKD1 NA NA NA intronic ENSG00000008710 NA NA NA NA NA 16p13.3 NA NA NA NA rs28610092 0.21 0.21 0.147 0.21905 0.167 NA 0.1787 0.5446 0.0869 0.17 0.01 0.21 0.51 0.1584 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116194 NA NA 0.160692 0.42598 NA 0.072 NA 3.513908 1301 1 204234225 204234225 G A intronic PLEKHA6 NA NA NA intronic ENSG00000143850 NA NA NA NA NA 1q32.1 NA NA NA NA rs4073136 0.5 0.5 0.444 0.464257 0.4861 0.4881 0.5288 0.4781 0.3528 0.49 0.5 0.52 0.49 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662885 NA NA NA NA NA 0.5 NA 3.5139 1301 2 242648545 242648545 C T intronic ING5 NA NA NA intronic ENSG00000168395 NA NA NA NA NA 2q37.3 NA NA NA NA rs7595652 0.34 0.34 0.316 0.279553 0.4861 0.1875 0.5086 0.1528 0.1708 0.49 0.18 0.48 0.17 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675064 NA NA NA NA NA 0.304 NA 3.5139 1301 2 242648549 242648549 G A intronic ING5 NA NA NA intronic ENSG00000168395 NA NA NA NA NA 2q37.3 NA NA NA NA rs7568408 0.34 0.34 0.314 0.279553 0.4861 0.1875 0.5086 0.1528 0.1708 0.49 0.18 0.48 0.17 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303953 NA NA NA NA NA 0.304 NA 3.5139 1301 3 12570572 12570572 C T intronic TSEN2 NA NA NA intronic ENSG00000154743 NA NA NA NA NA 3p25.2 NA NA NA NA rs299632 0.43 0.43 0.453 0.375 0.4861 0.1101 0.3746 0.6437 0.1708 0.5 0.11 0.44 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441224 NA NA NA NA NA 0.486 NA 3.5139 1301 7 56155219 56155219 C T intronic PHKG1 NA NA NA intronic ENSG00000164776 NA NA NA NA NA 7p11.2 NA NA NA NA rs6945795 0.5 0.5 0.493 0.475839 0.4861 0.6627 0.4524 0.3654 0.4387 0.48 0.65 0.48 0.38 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96317 NA NA NA NA NA 0.486 NA 3.5139 1301 9 100193113 100193113 T C intronic TDRD7 NA NA NA intronic ENSG00000196116 NA NA NA NA NA 9q22.33 NA NA NA NA rs7874295 0.49 0.49 0.485 0.450679 0.4861 0.4752 0.5677 0.4274 0.3374 0.49 0.5 0.57 0.45 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915496 NA NA NA NA ID=COSN168622;OCCURENCE=1(large_intestine) 0.478 NA 3.5139 1301 9 141035901 141035901 A G intergenic CACNA1B,TUBBP5 dist=16825;dist=8664 NA NA ncRNA_exonic ENSG00000229926 NA NA NA NA NA 9q34.3 NA NA NA NA rs2509413 0.48 0.48 0.407 0.500399 0.4861 0.3224 0.5965 0.6785 0.3896 0.51 0.26 0.57 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148511 NA NA NA NA NA 0.536 NA 3.5139 1301 16 33424691 33424691 T C intergenic LOC390705,RNU6-76P dist=125989;dist=38816 NA NA ncRNA_intronic ENSG00000259882 NA NA NA NA NA 16p11.2 NA NA NA NA rs2632824 NA NA NA 0.489417 0.4861 0.4752 0.4798 0.5045 0.4939 NA NA NA NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757382 NA NA NA NA NA 0.464 NA 3.5139 1301 18 14378621 14378621 C T intergenic CYP4F35P,CXADRP3 dist=36098;dist=99333 NA NA ncRNA_exonic ENSG00000187589 NA NA NA NA NA 18p11.21 NA NA NA NA rs55811695 0.29 0.29 0.248 0.285543 0.4861 0.1141 0.2954 0.1997 0.365 0.47 0.09 0.34 0.21 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163641 NA NA NA NA NA 0.232 NA 3.5139 1301 22 43830848 43830848 C T intronic MPPED1 NA NA NA intronic ENSG00000186732 NA NA NA NA NA 22q13.2 NA NA NA NA rs6519374 0.37 0.37 0.386 0.354233 0.4861 0.0823 0.3919 0.4221 0.3804 0.47 0.09 0.43 0.47 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896267 NA NA NA NA NA 0.428 NA 3.5139 1301 18 43405792 43405792 T C intronic SIGLEC15 NA NA NA intronic ENSG00000197046 NA NA NA NA NA 18q12.3 NA NA Name=3 NA rs1440822 0.53 0.53 0.53 0.488419 0.5 0.5248 0.3818 0.5877 0.3804 0.52 0.55 0.43 0.61 0.4781 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221823 NA NA 0.508372 0.57399 NA 0.58 NA 3.513528 1301 17 10231498 10231498 A C intronic MYH13 NA NA NA ncRNA_intronic ENSG00000264067 NA NA NA NA NA 17p13.1 NA NA NA NA rs2277645 0.78 0.78 0.764 0.727037 0.8201 0.9127 0.8256 0.4939 0.6851 0.82 0.9 0.82 0.55 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185608 NA NA NA NA NA 0.667 NA 3.5132333 1301 6 125614100 125614100 C A intronic HDDC2 NA NA NA intronic ENSG00000111906 NA NA NA NA NA 6q22.31 NA NA NA NA rs1417701 0.21 0.21 0.233 0.196885 0.161 0.1071 0.1873 0.3858 0.0777 0.15 0.09 0.21 0.45 0.1603 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045378 NA NA 0.165728 0.371429 NA 0.203 NA 3.512972 1301 6 162989383 162989383 T C intronic PARK2 NA NA NA intronic ENSG00000185345 NA NA NA NA NA 6q26 NA NA NA NA rs6914377 0.57 0.57 0.554 0.578474 0.4871 0.7143 0.5389 0.5454 0.6053 0.48 0.74 0.54 0.54 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903153 NA NA NA NA NA 0.616 NA 3.5129 1301 14 77932111 77932111 A G intronic AHSA1 NA NA NA intronic ENSG00000100591 NA NA NA NA NA 14q24.3 NA NA NA NA rs7146784 0.51 0.51 0.494 0.480831 0.4871 0.9187 0.513 0.0998 0.5153 0.49 0.92 0.45 0.11 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95319 NA NA NA NA NA 0.384 NA 3.5129 1301 16 2288224 2288224 G A intronic DNASE1L2 NA NA NA intronic ENSG00000167968 NA NA NA NA NA 16p13.3 NA NA NA NA rs27620 0.51 0.51 0.509 0.502995 0.4871 0.5218 0.3775 0.5166 0.5706 0.5 0.52 0.39 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674328 NA NA NA NA NA 0.442 NA 3.5129 1301 17 20768867 20768867 A C intronic CCDC144NL NA NA NA intronic ENSG00000205212 NA NA NA NA NA 17p11.2 NA NA NA NA rs9906896 NA NA 0.281 0.0461262 0.001 NA 0.0086 0.1664 0.0041 NA NA NA NA 0.4861 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358148 NA NA NA NA NA NA NA 3.5129 1301 22 35741863 35741863 A G intronic TOM1 NA NA NA intronic ENSG00000100284 NA NA NA NA NA 22q12.3 NA NA NA NA rs133399 0.7 0.7 0.707 0.688498 0.4871 0.745 0.696 0.972 0.4489 0.51 0.74 0.67 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381149 NA NA NA NA NA 0.826 NA 3.5129 1301 8 82727520 82727520 A T intronic SNX16 NA NA NA ncRNA_intronic ENSG00000253334 NA NA NA NA NA 8q21.13 NA NA NA NA rs2600606 0.27 0.27 0.257 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 0.2988 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.196415 3.196415 NA 0.255349 0.142987 NA 0.21 NA 3.5127843 1301 7 104742054 104742054 C T intronic MLL5 NA NA NA intronic ENSG00000005483 NA NA NA NA NA 7q22.3 NA NA NA NA rs11976329 0.38 0.38 0.441 0.367412 0.1322 0.5575 0.2435 0.5991 0.1881 0.12 0.63 0.25 0.6 0.2332 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.775755 3.775755 NA 0.122238 0.527475 NA 0.413 NA 3.512362 1301 21 28572980 28572980 C T intergenic ADAMTS5,MIR5009 dist=233541;dist=86842 NA NA intergenic ENSG00000215326,ENSG00000231236 dist=56712;dist=158224 NA NA Score=289;Name=lod=20 NA 21q21.3 NA NA NA NA rs2830768 0.84 0.84 0.848 0.834864 0.8211 0.7976 0.8588 0.882 0.8067 0.81 0.81 0.85 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234353 NA NA NA NA NA 0.862 NA 3.5122334 1301 2 97808495 97808495 C T intronic ANKRD36 NA NA NA intronic ENSG00000135976 NA NA NA NA NA 2q11.2 NA NA NA NA rs62153045 NA NA 0.17 NA NA NA NA NA NA NA NA NA NA 0.4878 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.175755 NA NA NA NA NA NA NA 3.5122 1301 9 139820421 139820421 G A UTR3 TRAF2 NM_021138:c.*68G>A NA NA UTR3 ENSG00000127191 ENST00000536468:c.*68G>A,ENST00000247668:c.*68G>A,ENST00000359662:c.*68G>A NA NA NA NA 9q34.3 NA Name=CTCF,CTCF_(SC-5916) NA NA rs7852970 0.59 0.59 0.616 0.59385 0.6213 0.7123 0.4251 0.531 0.6483 0.62 0.73 0.45 0.5 0.6199 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588956 NA NA 0.57994 0.511429 NA 0.638 NA 3.5121934 1301 1 8415235 8415235 C T intronic RERE NA NA NA intronic ENSG00000142599 NA NA NA NA NA 1p36.23 NA NA NA NA rs1889854 0.16 0.16 0.158 0.13738 0.2515 0.1141 0.1686 0.0265 0.1718 0.25 0.12 0.2 0.03 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.804027 NA NA 0.236329 0.067197 NA 0.145 NA 3.512171 1301 13 28270611 28270611 C T intergenic POLR1D,GSX1 dist=29052;dist=96169 NA NA ncRNA_exonic ENSG00000226703 NA NA NA NA NA 13q12.2 NA NA NA NA rs9319387 0.43 0.43 0.37 0.386382 0.4881 0.5119 0.6239 0.1104 0.3569 0.49 0.51 0.59 0.11 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724431 NA NA NA NA NA 0.449 NA 3.5119 1301 1 16352492 16352492 G A intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs11584665 0.57 0.57 0.534 0.598243 0.4881 0.7619 0.4035 0.6717 0.5818 0.47 0.73 0.41 0.67 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858173 NA NA NA NA NA 0.601 NA 3.5119 1301 9 136211248 136211248 A G intronic MED22 NA NA NA intronic ENSG00000148297 NA NA NA NA NA 9q34.2 NA NA NA NA rs9645009 0.39 0.39 0.372 0.405751 0.4881 0.3145 0.4251 0.3396 0.4908 0.5 0.29 0.41 0.34 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044832 NA NA NA NA NA 0.297 NA 3.5119 1301 14 88411837 88411837 G A intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA NA NA 14q31.3 NA NA NA NA rs366615 0.43 0.43 0.43 0.447684 0.4881 0.2312 0.379 0.646 0.41 0.47 0.22 0.4 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218133 NA NA NA NA NA 0.42 NA 3.5119 1301 9 131027982 131027982 G C intronic GOLGA2 NA NA NA intronic ENSG00000167110 NA NA NA NA NA 9q34.11 NA NA NA NA rs7871866 0.16 0.16 0.144 0.174521 0.163 0.1885 0.1268 0.1369 0.2566 0.16 0.21 0.14 0.12 0.1698 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029483 NA NA 0.155349 0.131698 NA 0.188 NA 3.511851 1301 3 158539486 158539486 A G intronic MFSD1 NA NA NA intronic ENSG00000118855 NA NA NA NA NA 3q25.32 NA NA NA NA rs1548093 0.16 0.16 0.171 0.182907 0.166 0.0337 0.1326 0.3018 0.229 0.16 0.03 0.17 0.3 0.1608 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199176 NA NA 0.161501 0.260302 NA 0.152 NA 3.511699 1301 7 142168819 142168819 G A intergenic LOC730441,MTRNR2L6 dist=196751;dist=205312 NA NA exonic ENSG00000230099 NA nonsynonymous SNV ENSG00000230099:ENST00000454561:exon1:c.C26T:p.A9V NA NA 7q34 NA NA NA NA rs361350 0.55 0.55 0.594 0.608027 0.6918 0.7282 0.5504 0.4728 0.6217 0.6 0.67 0.49 0.4 0.6299 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.321867 NA 1 NA NA NA 0.529 NA 3.5116334 1301 12 6060960 6060960 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs2270151 0.14 0.14 0.119 0.116813 0.1849 0.1815 0.1095 0.0401 0.089 0.19 0.17 0.13 0.05 0.1351 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139361 NA NA 0.168372 0.085111 NA 0.072 NA 3.511628 1301 15 81637284 81637284 G A exonic TMC3 NA synonymous SNV TMC3:NM_001080532:exon13:c.C1341T:p.A447A exonic ENSG00000188869 NA synonymous SNV ENSG00000188869:ENST00000359440:exon13:c.C1341T:p.A447A,ENSG00000188869:ENST00000558726:exon13:c.C1344T:p.A448A NA NA 15q25.1 NA NA NA NA rs4278705 0.54 0.54 0.527 0.464657 0.7396 0.4504 0.6023 0.2451 0.3957 0.74 0.44 0.67 0.26 0.6578 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.122446 NA NA 0.757682 0.333682 NA 0.406 NA 3.5115846 1301 8 82727515 82727515 C T intronic SNX16 NA NA NA ncRNA_intronic ENSG00000253334 NA NA NA NA NA 8q21.13 NA NA NA NA rs2635482 0.27 0.27 0.265 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 0.297 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260992 1.260992 NA 0.258372 0.144576 NA 0.21 NA 3.5115613 1301 16 85953682 85953682 G C intronic IRF8 NA NA NA intronic ENSG00000140968 NA NA NA NA NA 16q24.1 NA NA NA NA rs16940005 0.14 0.14 0.119 0.120407 0.17 0.2133 0.1081 0.0166 0.1227 0.16 0.2 0.15 0.01 0.1552 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022542 NA NA 0.163256 0.038444 NA 0.167 NA 3.511544 1301 19 33687750 33687750 C T intronic LRP3 NA NA NA intronic ENSG00000130881 NA NA NA NA NA 19q13.11 NA NA NA NA rs3760890 0.29 0.29 0.278 0.333067 0.2465 0.4623 0.2522 0.1997 0.5266 0.25 0.47 0.26 0.17 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.457161 1.457161 NA 0.241986 0.187139 NA 0.297 NA 3.511514 1301 14 101506555 101506555 A G upstream;downstream MIR376A1,MIR376B,MIR654;MIR376A2,MIR376C NA NA NA upstream;downstream ENSG00000207934,ENSG00000264882;ENSG00000265032,ENSG00000271946 NA NA NA NA NA 14q32.31 NA NA NA NA rs76847254 0.02 0.02 0.024 0.0139776 0.0497 NA 0.0072 0.0015 0.0133 0.05 NA 0.01 0.0041 0.049 0.057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494671 NA NA 0.056548 0.011494 NA 0.087 NA 3.5114186 1301 17 48263903 48263903 A G intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA NA NA NA rs2277632 0.23 0.23 0.227 0.248203 0.1581 0.378 0.0793 0.3033 0.2526 0.15 0.36 0.09 0.3 0.1874 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.798003 NA NA 0.143488 0.288697 NA 0.239 NA 3.511012 1301 1 192780498 192780498 A G intronic RGS2 NA NA NA intronic ENSG00000116741 NA NA NA NA NA 1q31.2 NA NA NA NA rs17647363 0.09 0.09 0.085 0.0800719 0.1809 0.0575 0.1196 0.0098 0.0665 0.16 0.05 0.14 NA 0.1246 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.033549 NA NA 0.183597 0.033135 NA 0.152 NA 3.510903 1301 4 103911159 103911159 A C intronic SLC9B1 NA NA NA intronic ENSG00000164037 NA NA NA NA NA 4q24 NA NA NA NA rs7672319 0.56 0.56 0.545 0.560903 0.4891 0.5129 0.5533 0.7163 0.4796 0.48 0.5 0.56 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19527 NA NA NA NA NA 0.63 NA 3.5109 1301 12 96354455 96354455 G C intronic AMDHD1 NA NA NA intronic ENSG00000139344 NA NA NA NA NA 12q23.1 NA NA NA NA rs2043608 0.56 0.56 0.574 0.56849 0.4891 0.5119 0.6297 0.6982 0.4898 0.48 0.55 0.59 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841834 NA NA NA NA NA 0.58 NA 3.5109 1301 12 96356060 96356060 G A intronic AMDHD1 NA NA NA intronic ENSG00000139344 NA NA NA NA NA 12q23.1 NA NA NA NA rs3751265 0.56 0.56 NA 0.568291 0.4891 0.5109 0.6297 0.6982 0.4898 0.48 0.55 0.59 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835708 NA NA NA NA NA 0.594 NA 3.5109 1301 14 89202569 89202569 C T intronic EML5 NA NA NA intronic ENSG00000165521 NA NA NA NA NA 14q31.3 NA NA NA NA rs8003018 0.73 0.73 0.698 0.758387 0.4891 0.9325 0.683 0.9123 0.7014 0.49 0.94 0.69 0.9 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561964 NA NA NA NA NA 0.696 NA 3.5109 1301 15 65108652 65108652 T C intronic PIF1 NA NA NA intronic ENSG00000140451 NA NA NA NA NA 15q22.31 NA NA NA NA rs6494498 0.3 0.3 0.301 0.277556 0.4891 0.1111 0.2608 0.2602 0.2669 0.49 0.08 0.3 0.29 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493893 NA NA NA NA NA 0.413 NA 3.5109 1301 17 20872949 20872949 T C intergenic CCDC144NL,USP22 dist=73496;dist=29957 NA NA ncRNA_intronic ENSG00000233098,ENSG00000264660 NA NA NA NA NA 17p11.2 NA NA NA NA rs11651632 0.51 0.51 0.479 0.539736 0.4891 0.4722 0.402 0.6339 0.6319 0.49 0.51 0.39 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24169 NA NA NA NA NA 0.304 NA 3.5109 1301 17 67109673 67109673 A G intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.3 NA NA NA NA rs7504026 0.35 0.35 0.302 0.371805 0.4891 0.3423 0.4683 0.1452 0.5194 0.49 0.29 0.44 0.14 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595042 NA NA NA NA NA 0.355 NA 3.5109 1301 19 46664168 46664168 G A intronic IGFL2 NA NA NA ncRNA_intronic ENSG00000267922 NA NA NA NA NA 19q13.32 NA NA NA NA rs2270403 0.23 0.23 0.198 0.228035 0.2813 0.1766 0.2579 0.152 0.3078 0.3 0.18 0.25 0.17 0.2651 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493736 NA NA 0.276495 0.183689 NA 0.312 NA 3.5104383 1301 6 125614121 125614121 C A intronic HDDC2 NA NA NA intronic ENSG00000111906 NA NA NA NA NA 6q22.31 NA NA NA NA rs1417700 0.21 0.21 0.221 0.196885 0.161 0.1071 0.1873 0.3858 0.0777 0.15 0.09 0.21 0.45 0.1655 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06678 NA NA 0.163105 0.37211 NA 0.203 NA 3.510395 1301 9 33395039 33395039 C T intronic AQP7 NA NA NA intronic ENSG00000165269 NA NA NA NA NA 9p13.3 NA NA NA NA rs72707431 NA NA 0.343 NA NA NA NA NA NA NA NA NA NA 0.49 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178162 NA NA NA NA NA 0.42 NA 3.51 1301 13 114542858 114542858 G A ncRNA_intronic GAS6-AS1 NA NA NA intronic ENSG00000183087 NA NA NA NA NA 13q34 NA NA NA NA rs9604573 0.26 0.26 0.235 0.291334 0.2853 0.244 0.2637 0.2564 0.4131 0.28 0.25 0.27 0.24 0.2733 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004969 NA NA 0.264767 0.242851 NA 0.275 NA 3.5099663 1301 2 101022886 101022886 C T intronic CHST10 NA NA NA intronic ENSG00000115526 NA NA NA NA NA 2q11.2 NA NA NA NA rs4149512 0.45 0.45 0.393 0.38778 0.4901 0.7183 0.4524 0.0991 0.2863 0.49 0.72 0.43 0.09 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794398 NA NA NA NA NA 0.355 NA 3.5099 1301 6 1742908 1742908 C G intronic GMDS NA NA NA intronic ENSG00000112699 NA NA NA NA NA 6p25.3 NA NA NA NA rs3734740 0.48 0.48 0.478 0.487021 0.4901 0.6617 0.4726 0.2867 0.5849 0.49 0.64 0.48 0.29 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.950128 NA NA NA NA NA 0.486 NA 3.5099 1301 6 41753380 41753380 G T intronic PRICKLE4 NA NA NA intronic ENSG00000124593,ENSG00000137218 NA NA NA NA NA 6p21.1 NA NA NA NA rs3747753 0.54 0.54 0.51 0.548922 0.4901 0.5387 0.6787 0.5166 0.5716 0.49 0.56 0.65 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111776 NA NA NA NA NA 0.5 NA 3.5099 1301 10 38385441 38385441 G A intronic ZNF37A NA NA NA intronic ENSG00000075407 NA NA NA NA NA 10p11.1 NA NA NA NA rs2474573 0.5 0.5 0.517 0.46865 0.4901 0.5585 0.513 0.4939 0.2883 0.5 0.53 0.5 0.47 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622268 NA NA NA NA NA 0.507 NA 3.5099 1301 14 77914752 77914752 A G intronic VIPAS39 NA NA NA intronic ENSG00000151445 NA NA NA NA NA 14q24.3 NA NA NA NA rs2091916 0.51 0.51 0.492 0.474441 0.4901 0.9216 0.5144 0.0688 0.5174 0.49 0.93 0.46 0.08 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140337 NA NA NA NA NA 0.377 NA 3.5099 1301 15 93482656 93482656 G A intronic CHD2 NA NA NA intronic ENSG00000173575 NA NA NA NA NA 15q26.1 NA NA NA NA rs3743469 0.54 0.54 0.504 0.545128 0.4901 0.8542 0.536 0.2814 0.6462 0.5 0.83 0.53 0.28 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069136 NA NA NA NA NA 0.428 NA 3.5099 1301 2 184024190 184024190 A G intronic NUP35 NA NA NA intronic ENSG00000163002 NA NA NA NA NA 2q32.1 NA NA NA NA rs3748884 0.21 0.21 0.209 0.194688 0.1481 0.1171 0.1268 0.3608 0.1462 0.16 0.13 0.16 0.4 0.1752 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.455632 1.455632 NA 0.167209 0.322434 NA 0.217 NA 3.509491 1301 7 1478644 1478644 G A intronic MICALL2 NA NA NA intronic ENSG00000164877 NA NA NA NA NA 7p22.3 NA NA NA NA rs4307249 0.17 0.17 0.141 0.16853 0.1362 0.0288 0.281 0.2723 0.1258 0.14 0.04 0.28 0.27 0.1937 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046569 NA NA 0.160735 0.252521 NA 0.21 NA 3.509365 1301 4 113278172 113278172 A C intronic ALPK1 NA NA NA ncRNA_exonic ENSG00000251441 NA NA NA NA NA 4q25 NA NA NA NA rs4834266 0.84 0.84 0.845 0.840256 0.8241 0.8849 0.8473 0.8328 0.816 0.83 0.88 0.87 0.81 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193671 NA NA NA NA NA 0.804 NA 3.5092333 1301 6 33651975 33651975 C G intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs35095444 0.09 0.09 0.087 0.0702875 0.1809 0.0159 0.1196 0.0129 0.0552 0.19 0.02 0.11 0.02 0.1322 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064062 NA NA 0.177674 0.034044 NA 0.08 NA 3.509226 1301 6 31322470 31322470 C G intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 Name=4 NA rs2442717 0.85 0.85 0.845 0.872204 0.831 0.8165 0.8862 0.9085 0.9131 0.82 0.81 0.9 0.89 0.8466 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.004118 NA NA 0.813256 0.878575 NA 0.862 NA 3.509144 1301 7 95019355 95019355 G A intronic PON3 NA NA NA intronic ENSG00000005421,ENSG00000105852 NA NA NA NA NA 7q21.3 NA NA NA NA rs6977389 0.59 0.59 0.577 0.622204 0.4911 0.7569 0.6643 0.5439 0.6943 0.47 0.76 0.63 0.56 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033334 NA NA NA NA NA 0.507 NA 3.5089 1301 12 9571599 9571599 C A ncRNA_intronic DDX12P NA NA NA ncRNA_intronic ENSG00000214826 NA NA NA NA NA 12p13.31 NA NA NA NA rs73242993 0.59 0.59 0.554 0.508387 0.5805 0.5744 0.6311 0.326 0.5256 0.63 0.58 0.63 0.49 0.5773 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501382 NA NA NA NA NA 0.428 NA 3.5088666 1301 11 134214380 134214380 C T intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs111433290 0.2 0.2 0.208 0.208267 0.1521 0.0813 0.1542 0.3699 0.2168 0.17 0.09 0.22 0.37 0.1898 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32699 NA NA 0.14929 0.325227 NA 0.181 NA 3.50881 1301 8 100999637 100999637 G A intronic RGS22 NA NA NA intronic ENSG00000132554 NA NA NA NA NA 8q22.2 NA NA NA NA rs28758904 0.15 0.15 0.134 0.170527 0.162 0.0694 0.1398 0.2133 0.2474 0.16 0.08 0.15 0.23 0.1689 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.975755 2.975755 NA 0.160407 0.200826 NA 0.123 NA 3.508693 1301 5 1321873 1321873 C T intronic CLPTM1L NA NA NA intronic ENSG00000049656 NA NA NA NA NA 5p15.33 NA NA NA NA rs10073340 0.13 0.13 0.128 0.117812 0.171 0.0536 0.134 0.149 0.0757 0.19 0.04 0.14 0.13 0.1468 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189196 NA NA 0.173605 0.151611 NA 0.087 NA 3.508595 1301 2 29202580 29202580 G A intergenic WDR43,FAM179A dist=31500;dist=1584 NA NA intronic ENSG00000189350 NA NA NA NA NA 2p23.2 NA NA NA NA rs72857416 0.2 0.2 0.188 0.208267 0.1581 0.1746 0.1801 0.2799 0.2178 0.17 0.17 0.19 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037427 NA NA NA NA NA 0.167 NA 3.5085667 1301 16 84449206 84449206 T C intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs3826145 0.14 0.14 0.122 0.155351 0.1759 0.0248 0.2075 0.1475 0.2423 0.17 0.03 0.22 0.17 0.1583 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211075 NA NA 0.157463 0.134469 NA 0.225 NA 3.508337 1301 16 84224805 84224805 G C UTR5 ADAD2 NM_001145400:c.-32G>C,NM_139174:c.-32G>C NA NA UTR5 ENSG00000140955 ENST00000268624:c.-32G>C,ENST00000315906:c.-32G>C NA NA NA NA 16q24.1 NA Name=IRF1,SP1,E2F6,E2F6_(H-50),NF-YA,ZBTB33,CHD2_(N-1250),NF-YB NA NA rs8044351 0.67 0.67 0.686 0.661941 0.6064 0.5744 0.6599 0.8805 0.5153 0.61 0.6 0.62 0.89 0.6051 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560237 NA NA 0.613582 0.829752 NA 0.652 NA 3.5082514 1301 5 225768 225768 G C intronic SDHA NA NA NA intronic ENSG00000073578 NA NA NA NA NA 5p15.33 NA NA NA NA rs12520059 0.33 0.33 0.323 0.329273 0.492 0.2768 0.3329 0.0885 0.5389 0.5 0.29 0.33 0.1 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388768 NA NA NA NA NA 0.333 NA 3.508 1301 5 70763088 70763088 A G intronic BDP1 NA NA NA intronic ENSG00000145734 NA NA NA NA NA 5q13.2 NA NA NA NA rs7442961 0.42 0.42 0.414 0.439097 0.492 0.378 0.3444 0.4092 0.5552 0.5 0.39 0.35 0.39 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263106 NA NA NA NA NA 0.377 NA 3.508 1301 5 70840433 70840433 A G intronic BDP1 NA NA NA intronic ENSG00000145734 NA NA NA NA NA 5q13.2 NA NA NA NA rs279290 0.44 0.44 0.385 0.45627 0.492 0.379 0.3487 0.4713 0.5552 0.5 0.39 0.35 0.46 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580601 NA NA NA NA NA 0.413 NA 3.508 1301 6 87439714 87439714 A C intergenic SNHG5,HTR1E dist=1051263;dist=207310 NA NA ncRNA_exonic ENSG00000218561 NA NA NA NA NA 6q14.3 NA NA NA NA rs1325181 0.44 0.44 0.388 0.403954 0.492 0.6448 0.5303 0.0499 0.454 0.49 0.67 0.5 0.06 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03985 NA NA NA NA NA 0.449 NA 3.508 1301 16 5128995 5128995 C T intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 NA NA NA NA rs1846689 0.5 0.5 0.476 0.542332 0.492 0.629 0.4193 0.475 0.683 0.48 0.61 0.41 0.46 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.38825 2.38825 NA NA NA NA 0.428 NA 3.508 1301 20 25479058 25479058 A G intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs400357 0.67 0.67 0.679 0.638578 0.492 0.9772 0.4063 0.7027 0.5184 0.49 0.98 0.42 0.74 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043251 NA NA NA NA NA 0.543 NA 3.508 1301 6 31323409 31323409 T C intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=USF-1,Pol2-4H8,Pol2 Name=3 NA rs2523605 0.85 0.85 0.856 0.872604 0.831 0.8185 0.8862 0.9085 0.9131 0.82 0.81 0.9 0.89 0.8467 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197789 NA NA 0.814419 0.878802 NA 0.884 NA 3.507881 1301 1 236180580 236180580 C G intronic NID1 NA NA NA intronic ENSG00000116962 NA NA NA NA NA 1q42.3 NA NA NA NA rs3768081 0.36 0.36 0.296 0.404353 0.1093 0.6706 0.4366 0.3585 0.4724 0.1 0.69 0.36 0.36 0.2681 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001054 NA NA 0.115349 0.331366 NA 0.297 NA 3.507251 1301 9 130287287 130287287 C A intronic FAM129B NA NA NA intronic ENSG00000136830 NA NA NA NA NA 9q33.3 NA NA NA NA rs3765602 0.13 0.13 0.118 0.117013 0.165 0.0536 0.1441 0.1157 0.1155 0.15 0.08 0.18 0.11 0.142 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760558 NA NA 0.185814 0.115297 NA 0.101 NA 3.507186 1301 5 176471591 176471591 C T intronic ZNF346 NA NA NA intronic ENSG00000113761 NA NA NA NA NA 5q35.2 NA NA NA NA rs149307 0.57 0.57 0.594 0.586462 0.493 0.4871 0.4424 0.8752 0.4969 0.5 0.48 0.42 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.821885 NA NA NA NA NA 0.572 NA 3.507 1301 17 42334950 42334950 T C intronic SLC4A1 NA NA NA intronic ENSG00000004939 NA NA NA NA NA 17q21.31 NA NA NA NA rs2252501 0.14 0.14 0.139 0.147165 0.173 0.001 0.1138 0.2927 0.0982 0.16 NA 0.13 0.29 0.154 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008234 NA NA 0.166163 0.278711 NA 0.123 NA 3.506837 1301 10 11978499 11978499 T G intronic UPF2 NA NA NA intronic ENSG00000151461 NA NA NA NA NA 10p14 NA Name=SP1 NA NA rs7921794 0.69 0.69 0.689 0.708267 0.4702 0.8442 0.6988 0.826 0.6605 0.47 0.85 0.68 0.83 0.563 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005402 NA NA 0.460233 0.784839 NA 0.514 NA 3.506567 1301 21 47769134 47769134 A T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs35210219 0.26 0.26 0.277 0.313099 0.1521 0.2063 0.2435 0.5575 0.3078 0.15 0.22 0.19 0.53 0.2034 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058238 NA NA 0.138023 0.481162 NA 0.304 NA 3.506477 1301 1 111857276 111857276 T C intronic CHIA NA NA NA intronic ENSG00000134216 NA NA NA NA NA 1p13.2 NA NA NA NA rs41391244 0.17 0.17 0.159 0.195887 0.2366 0.1161 0.1484 0.2201 0.2372 0.22 0.09 0.16 0.2 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174753 NA NA 0.257385 0.21604 NA 0.319 NA 3.506015 1301 2 55473371 55473371 A G intronic MTIF2 NA NA NA intronic ENSG00000085760 NA NA NA NA NA 2p16.1 NA NA NA NA rs2576724 0.4 0.4 0.353 0.334864 0.494 0.5228 0.4179 0.0189 0.3456 0.51 0.56 0.44 0.03 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.930626 NA NA NA NA NA 0.275 NA 3.506 1301 6 17825888 17825888 T C intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs7771879 0.43 0.43 0.401 0.448682 0.494 0.4097 0.5173 0.3366 0.545 0.49 0.4 0.48 0.34 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164528 NA NA NA NA NA 0.565 NA 3.506 1301 6 38084569 38084569 C A intronic ZFAND3 NA NA NA intronic ENSG00000156639 NA NA NA NA NA 6p21.2 NA NA NA NA rs2295791 0.38 0.38 0.355 0.352835 0.494 0.1687 0.3905 0.3979 0.3098 0.5 0.15 0.42 0.41 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161953 NA NA NA NA NA 0.362 NA 3.506 1301 17 75484700 75484700 A G intronic SEPT9 NA NA NA intronic ENSG00000184640 NA NA NA NA NA 17q25.3 NA NA NA NA rs378578 0.58 0.58 0.637 0.582268 0.494 0.5179 0.4222 0.8699 0.4642 0.48 0.53 0.46 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72392 NA NA NA NA NA 0.551 NA 3.506 1301 22 45754517 45754517 G T intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs5764701 0.35 0.35 0.324 0.289936 0.494 0.2986 0.4697 0.0477 0.271 0.51 0.34 0.43 0.07 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237735 NA NA NA NA NA 0.196 NA 3.506 1301 1 19549343 19549343 G C intronic EMC1 NA NA NA ncRNA_intronic ENSG00000230424 NA NA NA NA NA 1p36.13 NA NA NA NA rs2073106 0.35 0.35 0.327 0.333466 0.2664 0.6815 0.2939 0.1346 0.3405 0.25 0.71 0.26 0.14 0.3081 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.86117 3.86117 NA 0.253023 0.152746 NA 0.196 NA 3.5058103 1301 1 9642329 9642329 C T intronic SLC25A33 NA NA NA intronic ENSG00000171612 NA NA NA NA NA 1p36.22 NA NA NA NA rs56026893 0.18 0.18 0.179 0.172125 0.172 0.2867 0.0922 0.1301 0.1677 0.18 0.27 0.09 0.14 0.1612 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260011 NA NA 0.161047 0.114163 NA 0.348 NA 3.505753 1301 14 74972942 74972942 G A intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs2286411 0.15 0.15 0.139 0.169728 0.172 0.1528 0.2032 0.0749 0.2894 0.18 0.16 0.18 0.07 0.1673 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811272 NA NA 0.154956 0.097821 NA 0.145 NA 3.505744 1301 11 128634760 128634760 C T intronic FLI1 NA NA NA intronic ENSG00000151702 NA NA NA NA NA 11q24.3 NA NA NA NA rs74400777 0.11 0.11 0.101 0.0982428 0.174 0.0933 0.0965 0.0348 0.1125 0.16 0.09 0.12 0.04 0.1501 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05356 NA NA 0.170197 0.053837 NA 0.087 NA 3.505703 1301 10 68139142 68139142 G A intronic CTNNA3 NA NA NA intronic ENSG00000183230 NA NA NA NA NA 10q21.3 NA NA NA NA rs12761828 0.09 0.09 0.093 0.0940495 0.1511 0.0506 0.1023 0.0136 0.183 0.15 0.07 0.12 0.02 0.1588 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086558 NA NA 0.184535 0.034498 NA 0.167 NA 3.505565 1301 12 52681533 52681533 T C intronic KRT81 NA NA NA intronic ENSG00000170442,ENSG00000205426 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs7300941 0.41 0.41 0.414 0.420527 0.5169 0.1577 0.3761 0.5688 0.4233 0.51 0.16 0.38 0.59 0.4637 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841792 NA NA 0.513837 0.580345 ID=COSN164253;OCCURENCE=1(breast) 0.5 NA 3.505563 1301 17 79389411 79389411 C T intronic BAHCC1 NA NA NA intronic ENSG00000171282 NA NA NA NA NA 17q25.3 NA NA NA NA rs11655888 0.08 0.08 0.058 0.0613019 0.1849 0.001 0.0951 0.003 0.0511 0.18 NA 0.12 0.01 0.1384 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086905 NA NA 0.171373 0.034306 NA 0.051 NA 3.505327 1301 6 3015790 3015790 A G exonic NQO2 NA synonymous SNV NQO2:NM_000904:exon5:c.A330G:p.P110P exonic ENSG00000124588 NA synonymous SNV ENSG00000124588:ENST00000380430:exon5:c.A330G:p.P110P,ENSG00000124588:ENST00000380455:exon5:c.A330G:p.P110P,ENSG00000124588:ENST00000380472:exon6:c.A330G:p.P110P,ENSG00000124588:ENST00000397717:exon6:c.A330G:p.P110P,ENSG00000124588:ENST00000338130:exon8:c.A330G:p.P110P NA NA 6p25.2 NA NA NA NA rs1049115 0.76 0.76 0.775 0.757388 0.7147 0.6538 0.7334 0.9312 0.6902 0.73 0.67 0.73 0.94 0.7283 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120445 NA NA 0.718372 0.899001 NA 0.79 NA 3.5052946 1301 17 16068506 16068506 T C intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p11.2 NA NA NA NA rs201765279 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4948 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711594 NA NA NA NA NA NA NA 3.5052 1301 5 79375724 79375724 G C intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs2288395 0.36 0.36 0.329 0.391174 0.2783 0.4147 0.3948 0.4652 0.3804 0.27 0.4 0.36 0.47 0.3111 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427349 NA NA 0.238837 0.431457 NA 0.232 NA 3.5050963 1302 1 235715601 235715601 A G intronic GNG4 NA NA NA intronic ENSG00000168243 NA NA NA NA NA 1q42.3 NA NA NA NA rs400948 0.61 0.61 0.564 0.623802 0.495 0.8383 0.6556 0.5635 0.5941 0.51 0.81 0.59 0.55 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15132 NA NA NA NA NA 0.71 NA 3.505 1302 5 137342589 137342589 T C intronic FAM13B NA NA NA intronic ENSG00000031003 NA NA NA NA NA 5q31.2 NA NA NA NA rs3756686 0.45 0.45 0.444 0.449681 0.495 0.5873 0.4323 0.2405 0.5562 0.49 0.59 0.4 0.24 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.113181 NA NA NA NA NA 0.435 NA 3.505 1302 8 141557497 141557497 T C intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs2292782 0.63 0.63 0.613 0.669928 0.495 0.6042 0.6138 0.916 0.6247 0.5 0.61 0.59 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710777 NA NA NA NA NA 0.652 NA 3.505 1302 16 5129892 5129892 T C intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 NA NA NA NA rs1909748 0.42 0.42 0.364 0.402955 0.495 0.371 0.5648 0.3419 0.3088 0.46 0.37 0.56 0.3 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949387 NA NA NA NA NA 0.449 NA 3.505 1302 19 48522894 48522894 C G intronic ELSPBP1 NA NA NA intronic ENSG00000169393 NA NA NA NA NA 19q13.33 NA NA NA NA rs2115100 0.54 0.54 0.498 0.526757 0.495 0.7817 0.6297 0.2958 0.5358 0.52 0.8 0.57 0.25 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628401 NA NA NA NA NA 0.362 NA 3.505 1302 22 33960676 33960676 A G intronic LARGE NA NA NA intronic ENSG00000133424 NA NA NA NA NA 22q12.3 NA NA NA NA rs713795 0.36 0.36 0.322 0.327676 0.495 0.2738 0.4568 0.1392 0.3742 0.5 0.29 0.45 0.15 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621915 NA NA NA NA NA 0.377 NA 3.505 1302 5 178567082 178567082 C T intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs34369919 0.08 0.08 0.073 0.0706869 0.1789 0.001 0.0749 0.0068 0.1145 0.18 0.0017 0.09 0.01 0.138 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.865819 NA NA 0.178256 0.031548 NA 0.065 NA 3.504844 1302 15 45974628 45974628 G A intronic SQRDL NA NA NA intronic ENSG00000137767 NA NA NA NA NA 15q21.1 NA NA NA NA rs2289578 0.21 0.21 0.191 0.229233 0.161 0.3968 0.1614 0.087 0.3671 0.16 0.43 0.15 0.1 0.1946 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.220648 NA NA 0.140098 0.088717 NA 0.152 NA 3.504302 1302 7 138417718 138417718 A G exonic ATP6V0A4 NA synonymous SNV ATP6V0A4:NM_130840:exon16:c.T1812C:p.H604H,ATP6V0A4:NM_130841:exon16:c.T1812C:p.H604H,ATP6V0A4:NM_020632:exon17:c.T1812C:p.H604H exonic ENSG00000105929 NA synonymous SNV ENSG00000105929:ENST00000353492:exon16:c.T1812C:p.H604H,ENSG00000105929:ENST00000393054:exon16:c.T1812C:p.H604H,ENSG00000105929:ENST00000310018:exon17:c.T1812C:p.H604H NA NA 7q34 NA NA NA NA rs3807154 0.7 0.7 0.676 0.677516 0.7237 0.8472 0.7824 0.4236 0.7239 0.73 0.84 0.76 0.47 0.7197 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.55802 NA NA 0.719186 0.465048 NA 0.623 NA 3.5040806 1302 1 165636749 165636749 A G intronic ALDH9A1 NA NA NA intronic ENSG00000143149 NA NA NA NA NA 1q24.1 NA NA NA NA rs2176151 0.35 0.35 0.34 0.365016 0.496 0.1567 0.3386 0.3971 0.4202 0.48 0.13 0.33 0.39 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889367 NA NA NA NA NA 0.377 NA 3.504 1302 3 189692565 189692565 G A intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA NA NA NA rs1985690 0.57 0.57 0.562 0.561302 0.496 0.7976 0.6153 0.4123 0.5481 0.49 0.83 0.58 0.4 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416322 NA NA NA NA NA 0.399 NA 3.504 1302 15 31127554 31127554 C T intergenic HERC2P10,FAN1 dist=7568;dist=68501 NA NA ncRNA_intronic ENSG00000259845 NA NA NA NA NA 15q13.2 NA NA NA NA rs739831 0.54 0.54 0.521 0.528754 0.496 0.8264 0.5173 0.2118 0.6922 0.52 0.86 0.52 0.23 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19537 NA NA NA NA NA 0.616 NA 3.504 1302 12 57922363 57922363 A G intronic MBD6 NA NA NA intronic ENSG00000166987 NA NA NA NA NA 12q13.3 NA NA NA NA rs2620679 0.24 0.24 0.241 0.236222 0.1759 0.3522 0.1427 0.2859 0.1779 0.18 0.31 0.14 0.32 0.1774 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171503 NA NA 0.142791 0.259646 NA 0.232 NA 3.503909 1302 X 302743 302743 G A intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs2738361 0.39 0.39 0.34102 NA NA NA NA NA NA 0.45 0.44 0.42 0.2 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145423 NA NA 0.496229 0.224711 NA 0.232 NA 3.503771 1302 7 138418910 138418910 G A exonic ATP6V0A4 NA synonymous SNV ATP6V0A4:NM_130840:exon15:c.C1662T:p.F554F,ATP6V0A4:NM_130841:exon15:c.C1662T:p.F554F,ATP6V0A4:NM_020632:exon16:c.C1662T:p.F554F exonic ENSG00000105929 NA synonymous SNV ENSG00000105929:ENST00000353492:exon15:c.C1662T:p.F554F,ENSG00000105929:ENST00000393054:exon15:c.C1662T:p.F554F,ENSG00000105929:ENST00000310018:exon16:c.C1662T:p.F554F NA NA 7q34 NA NA NA NA rs1026435 0.73 0.73 0.71 0.716653 0.7147 0.8403 0.7709 0.6074 0.7004 0.72 0.84 0.73 0.62 0.7267 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814504 NA NA 0.721512 0.608488 NA 0.674 NA 3.5037546 1302 1 21934667 21934667 G A intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=YY1,Pol2-4H8,TAF1,HMGN3,TBP,GTF2F1_(RAP-74),HEY1 NA NA rs829371 0.46 0.46 0.491 0.448482 0.502 0.4355 0.3401 0.4675 0.4581 0.51 0.45 0.35 0.48 0.4749 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334459 NA NA 0.519419 0.45663 NA 0.413 NA 3.503681 1302 19 22156585 22156585 G T exonic ZNF208 NA synonymous SNV ZNF208:NM_007153:exon4:c.C1251A:p.V417V exonic ENSG00000160321 NA synonymous SNV ENSG00000160321:ENST00000397126:exon4:c.C1251A:p.V417V NA NA 19p12 NA NA NA NA rs1018912 0.69 0.69 0.751 0.77516 0.7376 0.8125 0.7594 0.9599 0.5368 0.64 0.72 0.62 0.8 0.724 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619056 NA NA 0.701432 0.9119 NA 0.667 NA 3.5036346 1302 7 7421310 7421310 A G intronic COL28A1 NA NA NA intronic ENSG00000215018 NA NA NA Score=259;Name=lod=15 NA 7p21.3 NA NA NA NA rs1294627 0.67 0.67 0.637 0.658546 0.7614 0.8869 0.7579 0.1868 0.8845 0.77 0.88 0.75 0.2 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.175585 NA NA 0.735387 0.281069 NA 0.674 NA 3.503213 1302 6 111665071 111665071 T C intronic REV3L NA NA NA intronic ENSG00000009413 NA NA NA NA NA 6q21 NA NA NA NA rs1623806 0.38 0.38 0.369 0.354233 0.497 0.4187 0.4337 0.0461 0.501 0.51 0.44 0.44 0.06 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532018 NA NA NA NA NA 0.471 NA 3.503 1302 6 131540726 131540726 A T intronic AKAP7 NA NA NA intronic ENSG00000118507 NA NA NA NA NA 6q23.2 NA NA NA NA rs3822866 0.47 0.47 0.449 0.463658 0.497 0.3046 0.5749 0.5749 0.364 0.48 0.3 0.58 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.35321 1.35321 NA NA NA NA 0.522 NA 3.503 1302 16 10788106 10788106 A G intronic TEKT5 NA NA NA intronic ENSG00000153060 NA NA NA NA NA 16p13.13 NA NA NA NA rs2251984 0.58 0.58 0.574 0.589856 0.497 0.6121 0.6268 0.6762 0.5194 0.52 0.62 0.57 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404037 NA NA NA NA NA 0.717 NA 3.503 1302 17 28120851 28120851 A C intronic SSH2 NA NA NA intronic ENSG00000141298 NA NA NA NA NA 17q11.2 NA NA NA NA rs2617882 0.39 0.39 0.367 0.392971 0.497 0.2808 0.4078 0.3759 0.4141 0.48 0.27 0.42 0.37 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.627403 2.627403 NA NA NA NA 0.283 NA 3.503 1302 18 6942295 6942295 T C intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs733918 0.37 0.37 0.339 0.314896 0.497 0.2054 0.3141 0.3064 0.2526 0.5 0.22 0.38 0.34 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878316 NA NA NA NA NA 0.406 NA 3.503 1302 19 829408 829408 A G intronic AZU1 NA NA NA intronic ENSG00000172232 NA NA NA NA NA 19p13.3 NA NA NA NA rs687077 0.59 0.59 0.614 0.641174 0.497 0.4891 0.6052 0.9206 0.5941 0.5 0.46 0.57 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405253 NA NA NA NA NA 0.645 NA 3.503 1302 17 71241279 71241279 C T intronic C17orf80 NA NA NA intronic ENSG00000141219 NA NA NA NA NA 17q25.1 NA NA NA NA rs74822881 0.1 0.1 0.087 0.109425 0.1869 0.0188 0.1369 0.0537 0.1789 0.18 0.02 0.15 0.04 0.1443 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218465 NA NA 0.166027 0.057625 NA 0.072 NA 3.502773 1302 1 92108899 92108899 C T intergenic CDC7,TGFBR3 dist=117578;dist=37001 NA NA ncRNA_exonic ENSG00000203914 NA NA NA Score=786;Name=lod=2089 NA 1p22.1 NA NA NA NA rs2493202 0.81 0.81 0.781 0.821086 0.7157 0.9643 0.866 0.6959 0.9192 0.71 0.97 0.85 0.73 0.7816 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182639 NA NA NA NA NA 0.783 NA 3.5027 1302 12 6639088 6639088 A G exonic NCAPD2 NA synonymous SNV NCAPD2:NM_014865:exon29:c.A3801G:p.V1267V exonic ENSG00000010292 NA synonymous SNV ENSG00000010292:ENST00000545962:exon28:c.A3666G:p.V1222V,ENSG00000010292:ENST00000315579:exon29:c.A3801G:p.V1267V NA NA 12p13.31 NA NA NA NA rs1043262 0.78 0.78 0.78 0.78155 0.7137 0.7063 0.8228 0.9115 0.7239 0.72 0.71 0.81 0.93 0.7433 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612271 NA NA 0.706977 0.893554 NA 0.812 NA 3.5026896 1302 17 4796656 4796656 T C intronic MINK1 NA NA NA intronic ENSG00000141503 NA NA NA NA NA 17p13.2 NA NA NA NA rs2302320 0.31 0.31 0.303 0.310703 0.2594 0.1855 0.3098 0.5333 0.1922 0.23 0.19 0.3 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262636 NA NA 0.238128 0.433243 NA 0.355 NA 3.502472 1302 13 99076965 99076965 A G intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs7984394 0.38 0.38 0.369 0.391573 0.2465 0.3492 0.4164 0.5393 0.3671 0.25 0.38 0.42 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870068 NA NA 0.2511 0.501445 NA 0.391 NA 3.5024 1302 12 122674758 122674758 G A exonic LRRC43 NA synonymous SNV LRRC43:NM_001098519:exon5:c.G744A:p.R248R,LRRC43:NM_152759:exon5:c.G189A:p.R63R exonic ENSG00000158113 NA synonymous SNV ENSG00000158113:ENST00000339777:exon5:c.G744A:p.R248R,ENSG00000158113:ENST00000425921:exon5:c.G189A:p.R63R,ENSG00000158113:ENST00000537729:exon5:c.G189A:p.R63R NA NA 12q24.31 NA NA NA NA rs4758651 0.68 0.68 0.666 0.649161 0.7326 0.9008 0.6383 0.3404 0.729 0.75 0.92 0.62 0.35 0.7073 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042255 NA NA 0.724571 0.412037 NA 0.609 NA 3.5021956 1302 5 178986978 178986978 C G UTR5 RUFY1 NM_001040451:c.-62C>G NA NA UTR5 ENSG00000176783 ENST00000437570:c.-62C>G NA NA NA NA 5q35.3 NA Name=TAF1,ZNF263,Pol2,c-Myc NA NA rs7704349 0.46 0.46 0.418 0.438099 0.6471 0.2579 0.5014 0.3502 0.4826 0.65 0.25 0.49 0.38 0.5463 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420807 NA NA 0.637791 0.40286 NA 0.507 NA 3.5021424 1302 1 210006603 210006603 C T exonic DIEXF NA synonymous SNV DIEXF:NM_014388:exon4:c.C462T:p.P154P exonic ENSG00000117597 NA synonymous SNV ENSG00000117597:ENST00000491415:exon4:c.C462T:p.P154P NA NA 1q32.2 NA NA NA NA rs656566 0.6 0.6 0.605 0.590256 0.7286 0.3859 0.5418 0.6082 0.6687 0.72 0.41 0.61 0.63 0.6741 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365895 NA NA 0.76186 0.598275 ID=COSM146755;OCCURENCE=1(stomach) 0.71 NA 3.5021066 1302 3 52847601 52847601 C T intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs2071044 0.57 0.57 0.588 0.552716 0.498 0.4256 0.6066 0.7799 0.3947 0.5 0.48 0.63 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247661 NA NA NA NA NA 0.529 NA 3.502 1302 11 101848990 101848990 A G intronic KIAA1377 NA NA NA intronic ENSG00000110318 NA NA NA NA NA 11q22.1 NA NA NA NA rs3740931 0.6 0.6 0.603 0.585264 0.498 0.7649 0.4409 0.6558 0.4969 0.48 0.79 0.47 0.69 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.231426 NA NA NA NA NA 0.572 NA 3.502 1302 12 124857274 124857274 G A intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs4765147 0.33 0.33 0.318 0.332268 0.498 0.1518 0.5519 0.1762 0.4029 0.49 0.13 0.56 0.17 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789461 NA NA NA NA NA 0.232 NA 3.502 1302 16 88675177 88675177 A G intronic ZC3H18 NA NA NA intronic ENSG00000158545 NA NA NA NA NA 16q24.2 NA NA NA NA rs9932685 0.56 0.56 0.575 0.537939 0.498 0.5813 0.5922 0.643 0.3538 0.51 0.6 0.53 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360334 NA NA NA NA NA 0.478 NA 3.502 1302 20 36995340 36995340 C T intronic LBP NA NA NA intronic ENSG00000129988 NA NA NA NA NA 20q11.23 NA NA NA NA rs1739639 0.65 0.65 0.629 0.666933 0.498 0.9335 0.5519 0.6369 0.6881 0.49 0.93 0.55 0.63 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257392 NA NA NA NA NA 0.609 NA 3.502 1302 21 47656712 47656712 T C ncRNA_intronic MCM3AP-AS1 NA NA NA ncRNA_intronic ENSG00000215424 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839166 0.27 0.27 0.257 0.264776 0.4215 0.1111 0.2363 0.202 0.3671 0.41 0.1 0.29 0.22 0.3433 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725504 NA NA 0.399884 0.218339 NA 0.304 NA 3.5019826 1302 11 47758152 47758152 T C intronic FNBP4 NA NA NA intronic ENSG00000109920 NA NA NA NA NA 11p11.2 NA NA NA NA rs59205786 0.22 0.22 0.199 0.21845 0.1421 0.2937 0.1988 0.298 0.1258 0.15 0.32 0.2 0.25 0.2199 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.032192 NA NA 0.136229 0.267767 NA 0.167 NA 3.501771 1302 1 210012102 210012102 A G intronic DIEXF NA NA NA intronic ENSG00000117597 NA NA NA NA NA 1q32.2 NA Name=HNF4A_(H-171),STAT3,CEBPB NA NA rs1962735 0.74 0.74 0.716 0.724641 0.7445 0.8026 0.7233 0.6225 0.7628 0.74 0.8 0.75 0.64 0.7538 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.184769 3.184769 NA NA NA NA 0.754 NA 3.5017 1302 8 23294412 23294412 A G intronic ENTPD4 NA NA NA intronic ENSG00000197217 NA NA NA NA NA 8p21.3 NA NA NA NA rs2272642 0.14 0.14 0.121 0.119609 0.1789 0.0565 0.2392 0.0915 0.0767 0.2 0.06 0.21 0.08 0.1493 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.071788 NA NA 0.170116 0.116659 NA 0.138 NA 3.501684 1302 3 10133949 10133949 A G intronic FANCD2,FANCD2OS NA NA NA intronic ENSG00000144554,ENSG00000163705 NA NA NA NA NA 3p25.3 NA NA NA NA rs9811771 0.23 0.23 0.242 0.254193 0.1412 0.0675 0.1974 0.5431 0.2127 0.15 0.1 0.21 0.55 0.1918 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.442413 3.442413 NA 0.165349 0.490241 NA 0.37 NA 3.501651 1302 7 45747933 45747933 A G intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs2280497 0.14 0.14 0.134 0.127995 0.1809 0.121 0.1052 0.1649 0.047 0.18 0.1 0.13 0.14 0.1442 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220247 NA NA 0.173256 0.170981 NA 0.246 NA 3.501644 1302 9 33386226 33386226 T C intronic AQP7 NA NA NA intronic ENSG00000165269 NA NA NA NA NA 9p13.3 NA NA NA NA rs78244036 NA NA 0.44 NA NA NA NA NA NA NA NA NA NA 0.4985 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531084 NA NA NA NA ID=COSN168507;OCCURENCE=1(large_intestine) NA NA 3.5015 1302 19 9002493 9002493 T C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs77972891 NA NA 0.35 NA NA NA NA NA NA NA NA NA NA 0.4986 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782003 NA NA NA NA NA NA NA 3.5014 1302 16 56667854 56667854 A G UTR3 MT1M NM_176870:c.*100A>G NA NA UTR3 ENSG00000205364 ENST00000379818:c.*100A>G NA NA NA NA 16q12.2 NA NA NA NA rs2270837 0.73 0.73 0.714 0.710064 0.832 0.6657 0.7867 0.5469 0.7965 0.83 0.7 0.8 0.54 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268492 NA NA NA NA NA 0.768 NA 3.5013334 1302 9 139746992 139746992 G A intronic MAMDC4 NA NA NA intronic ENSG00000177943 NA NA NA NA NA 9q34.3 NA Name=Pol2(phosphoS2) NA NA rs10123375 0.77 0.77 0.818 0.773762 0.7495 0.875 0.5533 0.8404 0.7607 0.76 0.88 0.59 0.82 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282891 NA NA 0.749214 0.822254 NA 0.862 NA 3.501286 1302 6 57246785 57246785 A C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs62415470 NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.4989 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.588245 2.588245 NA NA NA NA 0.493 NA 3.5011 1302 9 33386243 33386243 C T intronic AQP7 NA NA NA intronic ENSG00000165269 NA NA NA NA NA 9p13.3 NA NA NA NA rs76705820 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.4979 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930947 NA NA NA NA NA NA NA 3.5011 1302 1 144855935 144855935 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1698581 NA NA 0.451 NA NA NA NA NA NA NA NA NA NA 0.499 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598436 NA NA NA NA NA 0.094 NA 3.501 1302 2 100925439 100925439 G A intronic LONRF2 NA NA NA intronic ENSG00000170500 NA NA NA NA NA 2q11.2 NA NA NA NA rs11693424 0.5 0.5 0.485 0.451877 0.499 0.7232 0.4726 0.3162 0.2924 0.5 0.72 0.44 0.28 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370201 NA NA NA NA ID=COSN166222;OCCURENCE=1(breast) 0.442 NA 3.501 1302 2 105388252 105388252 C G intergenic LOC284998,LOC100506421 dist=14075;dist=33631 NA NA ncRNA_exonic ENSG00000213301 NA NA NA NA NA 2q12.1 NA NA NA NA rs13003463 0.44 0.44 0.417 0.452476 0.499 0.1736 0.536 0.6483 0.3681 0.47 0.18 0.53 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455696 NA NA NA NA NA 0.536 NA 3.501 1302 5 136193610 136193610 T C intergenic TRPC7,SPOCK1 dist=492446;dist=117377 NA NA ncRNA_exonic ENSG00000248616 NA NA NA NA NA 5q31.1 NA NA NA NA rs13186242 0.58 0.58 0.567 0.619609 0.499 0.6091 0.5245 0.7632 0.6278 0.51 0.56 0.49 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576341 NA NA NA NA NA 0.638 NA 3.501 1302 17 21318586 21318586 G C intronic KCNJ12,KCNJ18 NA NA NA intronic ENSG00000184185 NA NA NA NA NA 17p11.2 NA NA NA NA rs59891808 NA NA NA 0.501198 0.499 0.504 0.5014 0.5015 0.5 NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.035316 NA NA NA NA NA 0.341 NA 3.501 1302 20 43623658 43623658 C T intronic STK4 NA NA NA intronic ENSG00000101109 NA NA NA NA NA 20q13.12 NA NA NA NA rs6017460 0.36 0.36 0.316 0.360024 0.499 0.2639 0.2882 0.3631 0.363 0.49 0.21 0.3 0.39 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820593 NA NA NA NA NA 0.406 NA 3.501 1302 10 100242345 100242345 C G intronic HPSE2 NA NA NA intronic ENSG00000172987 NA NA NA NA NA 10q24.2 NA NA NA NA rs1932800 0.28 0.28 0.305 0.315096 0.1451 0.2222 0.2334 0.6528 0.1871 0.13 0.21 0.21 0.63 0.2074 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906924 NA NA 0.146744 0.570813 NA 0.268 NA 3.500756 1302 10 28408538 28408538 C T intronic MPP7 NA NA NA intronic ENSG00000150054 NA NA NA NA NA 10p12.1 NA NA NA NA rs10047289 0.33 0.33 0.306 0.376797 0.1243 0.7728 0.3818 0.2337 0.4182 0.12 0.75 0.32 0.19 0.2526 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763454 NA NA 0.122674 0.226282 NA 0.268 NA 3.500426 1302 17 21208449 21208449 G T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1657694 0.5 0.5 0.38 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4996 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514403 NA NA NA NA NA 0.486 NA 3.5004 1302 6 57247022 57247022 C T intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs4382263 NA NA 0.49 NA NA NA NA NA NA NA NA NA NA 0.4997 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837095 NA NA NA NA NA 0.5 NA 3.5003 1302 1 144854497 144854497 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs2653676 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4998 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418934 NA NA NA NA NA NA NA 3.5002 1302 6 57246815 57246815 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs6936571 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.4998 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513211 NA NA NA NA NA 0.486 NA 3.5002 1302 6 57246982 57246982 G T intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs4585567 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576696 NA NA NA NA NA 0.5 NA 3.5002 1302 17 21204153 21204153 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs66883103 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017594 NA NA NA NA NA 0.399 NA 3.5002 1302 17 21208456 21208456 A G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1657693 0.5 0.5 0.38 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115536 NA NA NA NA NA 0.478 NA 3.5002 1302 17 21216788 21216788 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1673840 0.5 0.5 0.45 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4998 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322802 NA NA NA NA NA 0.5 NA 3.5002 1302 14 58737766 58737766 A T ncRNA_intronic FLJ31306 NA NA NA ncRNA_intronic ENSG00000257621 NA NA NA NA NA 14q23.1 NA Name=Pol2 NA NA rs8005100 0.65 0.65 0.671 0.671925 0.7396 0.4137 0.6888 0.8056 0.6759 0.71 0.4 0.7 0.81 0.6926 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391078 NA NA 0.734302 0.778484 ID=COSN164688;OCCURENCE=1(breast) 0.688 NA 3.5001646 1302 7 21641269 21641269 A G intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs10499531 0.11 0.11 0.104 0.101238 0.173 0.0327 0.1066 0.0877 0.1125 0.16 0.05 0.13 0.08 0.1691 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145207 NA NA 0.157766 0.090085 NA 0.21 NA 3.500134 1302 17 21205604 21205604 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs62057722 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309056 NA NA NA NA NA 0.449 NA 3.5001 1302 1 12919422 12919422 T C intronic PRAMEF2 NA NA NA intronic ENSG00000120952 NA NA NA NA NA 1p36.21 NA NA NA NA rs74056157 NA NA NA 0.500399 0.5 0.4911 0.513 0.5015 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821538 NA NA NA NA NA NA NA 3.5 1302 1 12919423 12919423 G A intronic PRAMEF2 NA NA NA intronic ENSG00000120952 NA NA NA NA NA 1p36.21 NA NA NA NA rs74056158 NA NA NA 0.500399 0.5 0.4911 0.513 0.5015 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.109975 NA NA NA NA NA NA NA 3.5 1302 1 59096494 59096494 T C intergenic TACSTD2,MYSM1 dist=53328;dist=23917 NA NA downstream ENSG00000185839 NA NA NA NA NA 1p32.1 NA NA NA NA rs72676738 NA NA 0.375 NA NA NA NA NA NA NA NA NA NA NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354056 NA NA NA NA ID=COSN163103;OCCURENCE=1(breast),1(lung) 0.413 NA 3.5 1302 1 144852545 144852545 C T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1699760 NA NA 0.353 NA NA NA NA NA NA NA NA NA NA 0.5 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043551 NA NA NA NA NA 0.007 NA 3.5 1302 1 144854491 144854491 T G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs2798856 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506497 NA NA NA NA NA NA NA 3.5 1302 1 144873840 144873840 A G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1627335 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003532 NA NA NA NA NA 0.478 NA 3.5 1302 1 144874070 144874070 C T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1610565 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289055 NA NA NA NA NA 0.5 NA 3.5 1302 1 144874641 144874641 G C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1610771 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159713 NA NA NA NA NA 0.5 NA 3.5 1302 1 144922171 144922171 C T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1343470 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850762 NA NA NA NA NA 0.5 NA 3.5 1302 1 144946768 144946768 G A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs2762733 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169263 NA NA NA NA NA 0.5 NA 3.5 1302 2 91795325 91795325 A G intergenic NONE,LOC654342 dist=NONE;dist=29384 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA NA NA rs1640026 NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.931947 NA NA NA NA NA 0.5 NA 3.5 1302 3 196263661 196263661 C A intergenic C3orf43,WDR53 dist=21424;dist=17398 NA NA downstream ENSG00000225770 NA NA NA NA NA 3q29 NA NA NA NA rs7633310 NA NA 0.952 NA NA NA NA NA NA NA NA NA NA NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.363041 NA NA NA NA NA 0.659 NA 3.5 1302 5 110286503 110286503 T C intergenic SLC25A46,TSLP dist=188019;dist=120887 NA NA upstream ENSG00000248966 NA NA NA NA NA 5q22.1 NA NA NA NA rs62375538 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630796 NA NA NA NA NA 0.043 NA 3.5 1302 6 57372361 57372361 C A intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs9382770 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621012 NA NA NA NA NA 0.5 NA 3.5 1302 6 57512439 57512439 T C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs4294006 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20542 NA NA NA NA NA 0.196 NA 3.5 1302 7 57669857 57669857 T A intergenic ZNF716,NONE dist=136592;dist=NONE NA NA downstream ENSG00000233601 NA NA NA NA NA 7p11.2 NA NA NA NA rs77810058 NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745277 NA NA NA NA NA NA NA 3.5 1302 7 142498673 142498673 G A intergenic PRSS3P2,EPHB6 dist=16274;dist=54119 NA NA upstream ENSG00000211772 NA NA NA NA NA 7q34 NA NA NA NA rs376425724 NA NA 0.31 NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101982 NA NA NA NA NA 0.08 NA 3.5 1302 9 40292932 40292932 T C intergenic FAM74A1,SPATA31A3 dist=385692;dist=407359 NA NA upstream ENSG00000185020 NA NA NA NA NA 9p13.1 NA NA NA NA rs2935389 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523503 NA NA NA NA NA NA NA 3.5 1302 9 66836960 66836960 A C intergenic PTGER4P2-CDK2AP2P2,LOC286297 dist=333930;dist=180415 NA NA downstream ENSG00000270092 NA NA NA NA NA 9q13 NA NA NA NA rs3890047 NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113483 NA NA NA NA NA 0.529 NA 3.5 1302 9 68357234 68357234 T C intergenic ANKRD20A3,LOC642236 dist=386941;dist=70549 NA NA downstream ENSG00000228656 NA NA NA NA NA 9q13 NA NA NA NA rs3119158 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685972 NA NA NA NA NA NA NA 3.5 1302 9 68357263 68357263 G C intergenic ANKRD20A3,LOC642236 dist=386970;dist=70520 NA NA downstream ENSG00000228656 NA NA NA NA NA 9q13 NA NA NA NA rs3124521 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401196 NA NA NA NA NA NA NA 3.5 1302 9 68412779 68412779 A T intergenic ANKRD20A3,LOC642236 dist=442486;dist=15004 NA NA downstream ENSG00000232815 NA NA NA NA NA 9q13 NA NA NA NA rs62545682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246938 NA NA NA NA NA 0.348 NA 3.5 1302 9 68412792 68412792 T C intergenic ANKRD20A3,LOC642236 dist=442499;dist=14991 NA NA downstream ENSG00000232815 NA NA NA NA NA 9q13 NA NA NA NA rs150643179 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53432 NA NA NA NA NA 0.043 NA 3.5 1302 9 68412795 68412795 C T intergenic ANKRD20A3,LOC642236 dist=442502;dist=14988 NA NA downstream ENSG00000232815 NA NA NA NA NA 9q13 NA NA NA NA rs145483733 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679365 NA NA NA NA NA 0.043 NA 3.5 1302 10 119029515 119029515 C T intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363230 0.49 0.49 0.463 0.467652 0.5 0.5327 0.549 0.3502 0.4683 0.51 0.55 0.52 0.36 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440953 NA NA NA NA NA 0.493 NA 3.5 1302 10 135455222 135455222 A G intergenic FRG2B,DUX4L2 dist=14923;dist=25146 NA NA upstream ENSG00000233435 NA NA NA NA NA 10q26.3 NA NA NA NA rs78722606 NA NA 0.306 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338767 NA NA NA NA NA NA NA 3.5 1302 14 106721314 106721314 G A intergenic ADAM6,LINC00226 dist=282956;dist=22955 NA NA upstream ENSG00000254045 NA NA NA NA NA 14q32.33 NA NA NA NA rs60338422 0.5 0.5 0.548 NA NA NA NA NA NA 0.52 0.43 0.47 0.57 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784582 NA NA NA NA NA 0.536 NA 3.5 1302 14 106919159 106919159 C G intergenic LINC00226,LINC00221 dist=174193;dist=19296 NA NA downstream ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs76055263 0.24 0.24 0.199 NA NA NA NA NA NA 0.25 0.13 0.2 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601623 NA NA NA NA NA NA NA 3.5 1302 14 106919528 106919528 A G intergenic LINC00226,LINC00221 dist=174562;dist=18927 NA NA upstream ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs79553915 0.27 0.27 0.234 NA NA NA NA NA NA 0.27 0.16 0.2 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603138 NA NA NA NA NA 0.254 NA 3.5 1302 14 106919537 106919537 T C intergenic LINC00226,LINC00221 dist=174571;dist=18918 NA NA upstream ENSG00000254228 NA NA NA NA NA 14q32.33 NA NA NA NA rs78100248 0.27 0.27 0.239 NA NA NA NA NA NA 0.27 0.16 0.2 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217571 NA NA NA NA NA 0.254 NA 3.5 1302 14 106926107 106926107 T C intergenic LINC00226,LINC00221 dist=181141;dist=12348 NA NA downstream ENSG00000232216 NA NA NA NA NA 14q32.33 NA NA NA NA rs7401587 0.38 0.38 0.357 NA NA NA NA NA NA 0.32 0.42 0.31 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720189 NA NA NA NA NA 0.333 NA 3.5 1302 14 107275821 107275821 C A intergenic LINC00221,NONE dist=324292;dist=NONE NA NA downstream ENSG00000254284 NA NA NA NA NA 14q32.33 NA NA NA NA rs113098978 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873874 NA NA NA NA NA NA NA 3.5 1302 15 21903842 21903842 A G intergenic CT60,LOC646214 dist=705209;dist=28672 NA NA upstream ENSG00000258883 NA NA NA NA NA 15q11.2 NA NA NA NA rs8025343 NA NA 0.576 NA NA NA NA NA NA NA NA NA NA NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697728 NA NA NA NA NA 0.522 NA 3.5 1302 15 21904049 21904049 G A intergenic CT60,LOC646214 dist=705416;dist=28465 NA NA upstream ENSG00000258883 NA NA NA NA NA 15q11.2 NA NA NA NA rs28417205 NA NA 0.314 NA NA NA NA NA NA NA NA NA NA NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571524 NA NA NA NA NA 0.225 NA 3.5 1302 15 22482721 22482721 T C intergenic OR4N3P,REREP3 dist=68326;dist=63844 NA NA downstream ENSG00000270356 NA NA NA NA NA 15q11.2 NA NA NA NA rs1973424 NA NA 0.272 NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.131827 NA NA NA NA NA 0.362 NA 3.5 1302 17 21202272 21202272 C G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs34880480 0.5 0.5 0.42 0.00119808 NA 0.004 NA 0.0015 NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184198 NA NA NA NA NA 0.442 NA 3.5 1302 17 21215446 21215446 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs62055363 0.5 0.5 0.44 NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120312 NA NA NA NA NA 0.297 NA 3.5 1302 17 21544646 21544646 T C intergenic C17orf51,FAM27L dist=89705;dist=280724 NA NA downstream ENSG00000265019 NA NA NA NA NA 17p11.2 NA NA NA NA rs9285745 NA NA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610938 NA NA NA NA NA 0.435 NA 3.5 1302 19 9345802 9345802 A G intergenic OR7D4,OR7E24 dist=20255;dist=15918 NA NA upstream ENSG00000188314 NA NA NA NA NA 19p13.2 NA NA NA NA rs1968134 0.02 0.02 0.023 0.0279553 NA NA 0.0058 0.1029 NA NA NA 0.01 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.215457 NA NA NA NA NA 0.029 NA 3.5 1302 X 155215952 155215952 A C intergenic VAMP7,IL9R dist=42519;dist=11294 NA NA upstream ENSG00000223484 NA NA NA NA NA Xq28 NA NA NA NA rs4013614 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141964 NA NA NA NA NA 0.775 NA 3.5 1302 20 17474968 17474968 T C exonic BFSP1 NA synonymous SNV BFSP1:NM_001161705:exon8:c.A1374G:p.P458P,BFSP1:NM_001195:exon8:c.A1749G:p.P583P exonic ENSG00000125864 NA synonymous SNV ENSG00000125864:ENST00000377868:exon8:c.A1374G:p.P458P,ENSG00000125864:ENST00000377873:exon8:c.A1749G:p.P583P,ENSG00000125864:ENST00000544874:exon9:c.A1332G:p.P444P,ENSG00000125864:ENST00000536626:exon10:c.A1332G:p.P444P NA NA 20p12.1 NA NA NA NA rs6080718 0.73 0.73 0.728 0.750599 0.7286 0.6438 0.7608 0.7958 0.8149 0.71 0.63 0.81 0.82 0.7285 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259324 NA NA 0.709884 0.799138 NA 0.746 NA 3.4996826 1302 5 131321159 131321159 G C intronic ACSL6 NA NA NA intronic ENSG00000164398 NA NA NA NA NA 5q31.1 NA NA NA NA rs11740791 0.09 0.09 0.079 0.0609026 0.175 NA 0.1282 0.0076 0.0307 0.18 NA 0.16 0.01 0.1316 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879961 NA NA 0.194302 0.042442 NA 0.022 NA 3.499098 1302 6 10214626 10214626 C T intergenic LOC100506207,TFAP2A dist=1428948;dist=182290 NA NA upstream ENSG00000229765 NA NA NA NA NA 6p24.3 NA NA NA NA rs73411334 0.03 0.03 0.037 0.0401358 0.001 NA 0.0173 0.1422 NA NA NA 0.01 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.999329 NA NA NA NA NA 0.058 NA 3.499 1302 7 93073147 93073147 C G intronic CALCR NA NA NA intronic ENSG00000004948 NA NA NA NA NA 7q21.3 NA NA NA NA rs2074123 0.52 0.52 0.524 0.514377 0.501 0.4286 0.6326 0.5643 0.4652 0.49 0.45 0.58 0.59 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273085 NA NA NA NA NA 0.572 NA 3.499 1302 10 134650146 134650146 C G intronic TTC40 NA NA NA intronic ENSG00000171811 NA NA NA NA NA 10q26.3 NA NA NA NA rs3750581 NA NA NA 0.504992 0.501 0.4038 0.5937 0.4917 0.5685 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128765 NA NA NA NA NA NA NA 3.499 1302 17 21217411 21217411 T C intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1657684 0.5 0.5 0.43 0.00199681 0.001 NA NA NA 0.0092 0.5 0.5 0.5 0.5 0.5 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066565 NA NA NA NA NA 0.5 NA 3.499 1302 18 28913811 28913811 T C intronic DSG1 NA NA NA intronic ENSG00000134760 NA NA NA NA NA 18q12.1 NA NA NA NA rs2007149 0.32 0.32 0.292 0.327676 0.501 0.0665 0.2882 0.292 0.4949 0.51 0.06 0.34 0.29 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397676 NA NA NA NA NA 0.377 NA 3.499 1302 22 31501788 31501788 T C intronic SELM NA NA NA intronic ENSG00000198832 NA NA NA NA NA 22q12.2 NA NA NA NA rs11705137 0.31 0.31 0.299 0.328075 0.501 0.0308 0.4323 0.2602 0.4744 0.49 0.03 0.44 0.28 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.673481 1.673481 NA NA NA NA 0.377 NA 3.499 1302 10 133769482 133769482 G C UTR3 PPP2R2D NM_018461:c.*15G>C NA NA UTR3 ENSG00000175470 ENST00000455566:c.*15G>C,ENST00000482010:c.*1256G>C,ENST00000422256:c.*284G>C NA NA NA NA 10q26.3 NA NA NA NA rs7894 0.34 0.34 0.32 0.314696 0.2644 0.4524 0.2622 0.2874 0.2986 0.27 0.46 0.29 0.33 0.3079 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049762 NA NA 0.262055 0.273799 NA 0.239 NA 3.4989784 1302 11 6890901 6890901 A G upstream OR10A2 NA NA NA upstream ENSG00000170790 NA NA NA NA NA 11p15.4 NA NA NA NA rs4758140 0.14 0.14 0.144 0.150958 0.168 0.1736 0.098 0.0779 0.2464 0.17 0.17 0.11 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501741 NA NA NA NA NA 0.08 NA 3.4986666 1302 11 6891985 6891985 A G downstream OR10A2 NA NA NA downstream ENSG00000170790 NA NA NA NA NA 11p15.4 NA NA NA NA rs72923107 0.13 0.13 0.135 0.146366 0.168 0.1736 0.098 0.0598 0.2474 0.17 0.17 0.11 0.05 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850835 NA NA NA NA NA 0.08 NA 3.4986666 1302 16 89592690 89592690 G A intronic SPG7 NA NA NA intronic ENSG00000197912 NA NA NA NA NA 16q24.3 NA NA NA NA rs3935626 0.11 0.11 0.104 0.103435 0.1571 0.1121 0.1138 0.0098 0.1585 0.16 0.13 0.12 0.02 0.1487 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726317 NA NA 0.195581 0.037534 NA 0.094 NA 3.498619 1302 7 111958339 111958339 T A intronic ZNF277 NA NA NA intronic ENSG00000198839 NA NA NA NA NA 7q31.1 NA NA NA NA rs3823515 0.22 0.22 0.211 0.23143 0.1461 0.1399 0.1297 0.4644 0.1708 0.15 0.13 0.13 0.48 0.1855 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591011 NA NA 0.169884 0.438039 NA 0.21 NA 3.498516 1302 15 52702699 52702699 T C intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs72623980 0.16 0.16 0.14 0.140375 0.1779 0.1597 0.1542 0.0809 0.1524 0.18 0.17 0.19 0.09 0.1524 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.731666 1.731666 NA 0.17126 0.095909 NA 0.152 NA 3.49844 1302 3 10167264 10167264 G C intronic BRK1 NA NA NA intronic ENSG00000254999 NA NA NA NA NA 3p25.3 NA NA NA NA rs67667957 0.19 0.19 0.19 0.206669 0.1461 0.0685 0.1772 0.3707 0.2106 0.15 0.1 0.18 0.38 0.1907 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137928 NA NA 0.164773 0.307354 NA 0.348 NA 3.498427 1302 4 103866480 103866480 G A intronic SLC9B1 NA NA NA intronic ENSG00000164037 NA NA NA Score=352;Name=lod=36 NA 4q24 NA NA NA NA rs3974494 0.56 0.56 0.536 0.564896 0.4891 0.5129 0.5418 0.7231 0.499 0.48 0.5 0.55 0.75 0.52 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24905 NA NA 0.492558 0.659555 NA 0.065 NA 3.498342 1302 12 48110551 48110551 A C intronic ENDOU NA NA NA ncRNA_intronic ENSG00000257433 NA NA NA NA NA 12q13.11 NA NA NA NA rs1233062 0.89 0.89 0.868 0.908147 0.835 0.9752 0.9207 0.9039 0.911 0.83 0.97 0.9 0.9 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083798 NA NA NA NA NA 0.913 NA 3.4983333 1302 17 46456300 46456300 A G intronic SKAP1 NA NA NA ncRNA_intronic ENSG00000266222 NA NA NA NA NA 17q21.32 NA NA NA NA rs4542696 0.75 0.75 0.757 0.747005 0.835 0.5367 0.7579 0.8215 0.7648 0.85 0.53 0.77 0.83 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338332 NA NA NA NA NA 0.768 NA 3.4983333 1302 4 6062117 6062117 T A intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs6852114 0.22 0.22 0.242 0.276957 0.1461 0.001 0.147 0.7065 0.2076 0.15 NA 0.13 0.66 0.1914 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287615 NA NA 0.164186 0.616432 NA 0.275 NA 3.498314 1302 15 56032519 56032519 G A intronic PRTG NA NA NA intronic ENSG00000166450 NA NA NA NA NA 15q21.3 NA NA NA NA rs10152116 0.26 0.26 0.214 0.205871 0.502 0.0169 0.4669 0.0151 0.1687 0.51 0.02 0.46 0.02 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.042566 NA NA NA NA NA 0.326 NA 3.498 1302 20 2996589 2996589 G T intronic PTPRA NA NA NA intronic ENSG00000132670 NA NA NA NA NA 20p13 NA NA NA NA rs1178017 0.61 0.61 NA 0.657748 0.502 0.8244 0.5591 0.6899 0.6728 0.49 0.77 0.57 0.65 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495573 NA NA NA NA NA 0.609 NA 3.498 1302 21 45969971 45969971 A G intronic TSPEAR NA NA NA intronic ENSG00000175894 NA NA NA NA NA 21q22.3 NA NA NA NA rs8133293 0.41 0.41 0.357 0.452875 0.502 0.3254 0.4798 0.4236 0.5542 0.47 0.28 0.51 0.39 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748202 NA NA NA NA NA 0.362 NA 3.498 1302 1 242156428 242156428 C T intergenic EXO1,MAP1LC3C dist=103187;dist=2364 NA NA upstream ENSG00000213026 NA NA NA NA NA 1q43 NA NA NA NA rs142577030 0.03 0.03 0.028 0.053115 0.003 0.0575 0.0519 0.0726 0.0746 0.0026 0.05 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948014 NA NA NA NA NA 0.022 NA 3.497 1302 4 165578891 165578891 A C ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=36902;dist=67571 NA NA NA NA 4q32.3 NA NA NA NA rs1852765 0.54 0.54 0.532 0.497005 0.503 0.7411 0.4294 0.4856 0.3027 0.5 0.72 0.47 0.46 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643543 NA NA NA NA NA 0.623 NA 3.497 1302 8 134025781 134025781 A T intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs10105991 0.45 0.45 0.457 0.42512 0.503 0.1776 0.3775 0.7141 0.2434 0.51 0.17 0.43 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153499 NA NA NA NA NA NA NA 3.497 1302 8 134025783 134025783 A G intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs10105992 0.45 0.45 0.457 0.42512 0.503 0.1776 0.3775 0.7141 0.2434 0.51 0.17 0.43 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51513 NA NA NA NA NA NA NA 3.497 1302 17 61560763 61560763 T C intronic ACE NA NA NA intronic ENSG00000159640 NA NA NA NA NA 17q23.3 NA NA NA NA rs4311 0.65 0.65 0.621 0.665735 0.503 0.6736 0.6268 0.795 0.6779 0.51 0.69 0.62 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673036 NA NA NA NA NA 0.681 NA 3.497 1302 15 52725334 52725334 C T intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs11853875 0.16 0.16 0.138 0.141174 0.1789 0.1597 0.1585 0.0802 0.1534 0.18 0.17 0.2 0.08 0.1529 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.517867 2.517867 NA 0.171527 0.094992 NA 0.152 NA 3.496673 1302 1 43300921 43300921 C G intronic ERMAP NA NA NA ncRNA_intronic ENSG00000243153 NA NA NA NA NA 1p34.2 NA NA NA NA rs4660673 0.78 0.78 0.772 0.747604 0.837 0.5843 0.8573 0.7943 0.683 0.84 0.64 0.85 0.79 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367212 NA NA NA NA NA 0.775 NA 3.4963333 1302 17 21208331 21208331 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs1898407 0.34 0.34 0.259 NA NA NA NA NA NA 0.37 0.16 0.34 0.48 0.3242 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22888 NA NA 0.179535 0.346119 NA 0.159 NA 3.496265 1302 12 52681733 52681733 A C intronic KRT81 NA NA NA intronic ENSG00000170442,ENSG00000205426 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs7954186 0.43 0.43 0.423 0.45008 0.5169 0.1577 0.3833 0.677 0.4233 0.51 0.16 0.39 0.67 0.4723 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244344 NA NA 0.514651 0.658647 NA 0.543 NA 3.496149 1302 1 144854052 144854052 G A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1698584 NA NA NA 0.503195 0.504 0.501 0.5029 0.5038 0.5041 NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365354 NA NA NA NA NA 0.101 NA 3.496 1302 1 146527879 146527879 A G intergenic LOC728989,PRKAB2 dist=13280;dist=98806 NA NA ncRNA_intronic ENSG00000227242 NA NA NA NA NA 1q21.1 NA NA NA NA rs614763 0.4 0.4 0.402 0.378395 0.504 0.1657 0.353 0.5227 0.2914 0.51 0.16 0.39 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521292 NA NA NA NA NA 0.486 NA 3.496 1302 2 62788568 62788568 A C intergenic TMEM17,EHBP1 dist=54964;dist=112418 NA NA upstream ENSG00000230595 NA NA NA NA NA 2p15 NA NA NA NA rs139806429 0.0009 0.0009 0.001 0.00139776 0.004 NA NA NA 0.0031 0.0026 NA NA NA NA 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48946 NA NA NA NA NA NA NA 3.496 1302 2 131027329 131027329 C A intergenic TUBA3E,CCDC115 dist=71295;dist=68487 NA NA upstream ENSG00000237722 NA NA NA NA NA 2q21.1 NA NA NA NA rs146676770 0.05 0.05 0.018 0.0403355 0.004 NA 0.0245 0.1369 NA 0.03 0.02 0.05 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366919 NA NA NA NA NA 0.007 NA 3.496 1302 5 32775047 32775047 G T intronic NPR3 NA NA NA intronic ENSG00000113389 NA NA NA NA NA 5p13.3 NA NA NA NA rs1173743 0.61 0.61 0.616 0.623403 0.504 0.6349 0.536 0.7655 0.6043 0.51 0.63 0.53 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262135 NA NA NA NA NA 0.58 NA 3.496 1302 20 207889 207889 G A upstream DEFB129 NA NA NA upstream ENSG00000125903 NA NA NA NA NA 20p13 NA NA Name=2 NA rs2298149 0.28 0.28 0.239 0.26857 0.3867 0.2798 0.3746 0.0333 0.3783 0.39 0.26 0.39 0.04 0.3716 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.463712 NA NA 0.412442 0.090331 ID=COSN166454;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.167 NA 3.4959246 1302 14 22433866 22433866 C T intergenic OR4E2,DAD1 dist=299628;dist=599941 NA NA intronic ENSG00000211794 NA NA NA NA NA 14q11.2 NA NA NA NA rs17182972 0.21 0.21 0.221 0.202676 0.171 0.2391 0.183 0.2761 0.1125 0.17 0.27 0.19 0.23 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889551 NA NA NA NA ID=COSN164624;OCCURENCE=1(NS) 0.21 NA 3.4956667 1302 11 102822733 102822733 C T intronic MMP13 NA NA NA intronic ENSG00000137745 NA NA NA NA NA 11q22.2 NA NA NA NA rs3819089 0.18 0.18 0.189 0.212859 0.172 0.2232 0.1167 0.1868 0.3476 0.17 0.21 0.12 0.18 0.1687 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602237 NA NA 0.163759 0.173025 NA 0.217 NA 3.495541 1302 6 145079197 145079197 T C intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA NA NA NA rs9283116 0.61 0.61 0.617 0.645567 0.2505 0.8681 0.6225 0.9062 0.4867 0.26 0.86 0.57 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418489 NA NA 0.254088 0.773121 NA 0.449 NA 3.495412 1302 1 183711483 183711483 C T intronic RGL1 NA NA NA intronic ENSG00000143344 NA NA NA NA NA 1q25.3 NA NA NA NA rs3820689 0.53 0.53 0.51 0.485623 0.505 0.7827 0.4179 0.2413 0.5378 0.51 0.82 0.45 0.29 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451258 NA NA NA NA NA 0.435 NA 3.495 1302 1 205028915 205028915 C T intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA NA NA NA rs10793725 0.28 0.28 0.256 0.216653 0.505 0.0526 0.2954 0.1188 0.1656 0.51 0.05 0.34 0.12 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228774 NA NA NA NA NA 0.355 NA 3.495 1302 3 191107192 191107192 A G intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA NA NA NA rs436393 0.37 0.37 0.335 0.355232 0.505 0.3125 0.4236 0.146 0.4796 0.5 0.35 0.43 0.16 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110777 NA NA NA NA NA 0.478 NA 3.495 1302 4 38022087 38022087 A G intronic TBC1D1 NA NA NA intronic ENSG00000065882 NA NA NA NA NA 4p14 NA NA NA NA rs10015663 0.61 0.61 0.6 0.610623 0.505 0.63 0.4481 0.7837 0.5808 0.51 0.7 0.46 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.037982 NA NA NA NA NA 0.638 NA 3.495 1302 12 52941529 52941529 T C intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs4761929 0.24 0.24 0.206 0.199481 0.505 0.0169 0.2925 0.025 0.2434 0.5 0.01 0.34 0.04 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551871 NA NA NA NA NA 0.326 NA 3.495 1302 13 24234369 24234369 G T intronic TNFRSF19 NA NA NA intronic ENSG00000127863 NA NA NA NA NA 13q12.12 NA NA NA NA rs3751366 0.39 0.39 0.357 0.380391 0.505 0.2927 0.4481 0.239 0.4857 0.5 0.31 0.47 0.27 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.913777 NA NA NA NA NA 0.355 NA 3.495 1302 16 90093969 90093969 T C intronic GAS8 NA NA NA intronic ENSG00000141013 NA NA NA NA NA 16q24.3 NA NA NA NA rs3743829 0.67 0.67 0.626 0.643371 0.505 0.9444 0.683 0.5174 0.6176 0.52 0.97 0.64 0.57 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058428 NA NA NA NA NA 0.638 NA 3.495 1302 21 38528866 38528866 A G intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835635 NA NA 0.573 0.618211 0.505 0.62 0.6571 0.677 0.6258 NA NA NA NA NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193507 NA NA NA NA NA 0.688 NA 3.495 1303 10 115966147 115966147 C G intronic TDRD1 NA NA NA intronic ENSG00000095627 NA NA NA NA NA 10q25.3 NA NA NA NA rs17091424 0.19 0.19 0.191 0.174121 0.2545 0.0605 0.2233 0.2186 0.1135 0.25 0.06 0.24 0.23 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051223 NA NA 0.250786 0.211705 NA 0.13 NA 3.494714 1303 4 111474659 111474659 C A intronic ENPEP NA NA NA intronic ENSG00000138792 NA NA NA NA NA 4q25 NA NA NA NA rs12501626 0.18 0.18 0.153 0.182907 0.1581 0.255 0.1873 0.1195 0.2168 0.17 0.24 0.16 0.13 0.1813 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444133 NA NA 0.16593 0.132773 NA 0.123 NA 3.49467 1303 15 78764285 78764285 A G intronic IREB2 NA NA NA intronic ENSG00000136381 NA NA NA NA NA 15q25.1 NA NA NA NA rs3817092 0.16 0.16 0.161 0.148363 0.1809 0.1657 0.1052 0.1256 0.1585 0.18 0.15 0.12 0.17 0.1568 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.817863 NA NA 0.167637 0.147489 NA 0.123 NA 3.494663 1303 14 21967133 21967133 C A UTR3 TOX4 NM_014828:c.*2369C>A NA NA UTR3 ENSG00000092203 ENST00000405508:c.*2369C>A,ENST00000262709:c.*2369C>A NA NA NA NA 14q11.2 NA NA NA NA rs1061027 0.19 0.19 0.166 0.191893 0.2813 0.2113 0.1599 0.0416 0.3057 0.28 0.21 0.18 0.05 0.2612 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510852 NA NA 0.296279 0.084657 NA 0.152 NA 3.4945544 1303 10 105967624 105967624 C T intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA NA NA NA rs11191948 0.1 0.1 0.106 0.0872604 0.1978 0.003 0.0994 0.0431 0.1115 0.21 0.0017 0.12 0.04 0.1348 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106198 NA NA 0.172907 0.058783 NA 0.036 NA 3.494493 1303 17 16830287 16830287 T C intergenic KRT16P2,TNFRSF13B dist=94140;dist=12111 NA NA ncRNA_intronic ENSG00000128438 NA NA NA NA NA 17p11.2 NA NA NA NA rs3751996 0.65 0.65 0.622 0.680911 0.506 0.9405 0.6369 0.5545 0.7955 0.52 0.93 0.6 0.58 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791727 NA NA NA NA NA 0.558 NA 3.494 1303 5 78340062 78340062 T C intronic DMGDH NA NA NA intronic ENSG00000132837 NA NA NA NA NA 5q14.1 NA NA NA NA rs248384 0.61 0.61 0.6 0.614417 0.506 0.7798 0.5879 0.6241 0.5613 0.5 0.78 0.61 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547082 NA NA NA NA NA 0.551 NA 3.494 1303 8 67970243 67970243 A G intronic COPS5 NA NA NA intronic ENSG00000121022 NA NA NA NA NA 8q13.1 NA NA NA NA rs6997490 0.65 0.65 0.68 0.678514 0.506 0.6448 0.5447 0.9735 0.5869 0.51 0.64 0.56 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326141 NA NA NA NA NA 0.696 NA 3.494 1303 11 68831293 68831293 C G intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs11228472 0.35 0.35 0.323 0.292332 0.506 0.2877 0.3199 0.174 0.2178 0.49 0.29 0.35 0.21 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156751 NA NA NA NA NA 0.304 NA 3.494 1303 12 52939994 52939994 T C intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs11170171 0.39 0.39 0.34 0.326877 0.506 0.5 0.4712 0.0272 0.2669 0.5 0.47 0.49 0.05 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068857 NA NA NA NA NA 0.384 NA 3.494 1303 12 52942694 52942694 C T intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs3803085 0.39 0.39 0.344 0.326877 0.506 0.499 0.4726 0.0272 0.2669 0.5 0.47 0.49 0.05 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97547 NA NA NA NA NA 0.384 NA 3.494 1303 22 45782646 45782646 C T intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs136591 0.65 0.65 0.651 0.709665 0.506 0.7014 0.5346 0.9493 0.728 0.49 0.66 0.57 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318188 NA NA NA NA NA 0.797 NA 3.494 1303 2 113513504 113513504 A G intronic CKAP2L NA NA NA intronic ENSG00000169607 NA NA NA NA NA 2q13 NA NA Name=2 NA rs4848298 0.46 0.46 0.413 0.422324 0.507 0.6895 0.5519 0.056 0.4632 0.5 0.7 0.54 0.06 0.4954 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624283 NA NA 0.503953 0.125738 NA 0.435 NA 3.493647 1303 5 58476232 58476232 G A intronic PDE4D NA NA NA intronic ENSG00000113448 NA NA NA NA NA 5q11.2 NA NA NA NA rs11749543 0.17 0.17 0.178 0.159744 0.163 0.1101 0.0893 0.236 0.1544 0.17 0.14 0.11 0.26 0.1889 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885278 NA NA 0.154545 0.228881 NA 0.116 NA 3.493555 1303 19 19359500 19359500 C G intronic NCAN NA NA NA intronic ENSG00000130287 NA NA NA NA NA 19p13.11 NA NA NA NA rs10423874 0.23 0.23 0.244 0.244209 0.166 0.1081 0.147 0.4826 0.2117 0.15 0.12 0.17 0.5 0.1818 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.561612 1.561612 NA 0.158953 0.428734 NA 0.355 NA 3.493247 1303 1 53175099 53175099 A G intergenic SELRC1,ZYG11B dist=11061;dist=17032 NA NA ncRNA_exonic ENSG00000233664 NA NA NA NA NA 1p32.3 NA NA NA NA rs12726160 0.32 0.32 0.306 0.317492 0.507 0.0179 0.3213 0.3502 0.3845 0.49 0.02 0.37 0.35 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035304 NA NA NA NA NA 0.304 NA 3.493 1303 3 31725691 31725691 T C intronic OSBPL10 NA NA NA intronic ENSG00000144645 NA NA NA NA NA 3p23 NA NA NA NA rs2278960 0.65 0.65 0.677 0.655551 0.507 0.7004 0.4798 0.9418 0.5 0.52 0.69 0.48 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212638 NA NA NA NA NA 0.652 NA 3.493 1303 4 5863032 5863032 G A intronic CRMP1 NA NA NA intronic ENSG00000072832 NA NA NA NA NA 4p16.2 NA NA NA NA rs13130069 0.45 0.45 0.424 0.408147 0.507 0.7649 0.4135 0.0159 0.4652 0.51 0.75 0.43 0.03 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715117 NA NA NA NA NA 0.449 NA 3.493 1303 6 19613120 19613120 A G intergenic MIR548A1,ID4 dist=1041009;dist=224481 NA NA ncRNA_exonic ENSG00000214012 NA NA NA NA NA 6p22.3 NA NA NA NA rs1936907 0.45 0.45 0.404 0.472045 0.507 0.2857 0.4813 0.615 0.4284 0.5 0.25 0.5 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033446 NA NA NA NA NA 0.638 NA 3.493 1303 7 2405885 2405885 C A intronic EIF3B NA NA NA intronic ENSG00000106263 NA NA NA NA NA 7p22.3 NA NA NA NA rs2286204 0.48 0.48 0.44 0.410144 0.507 0.7232 0.5778 0.0431 0.365 0.53 0.74 0.57 0.05 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038502 NA NA NA NA NA 0.304 NA 3.493 1303 7 100607642 100607642 C T intergenic ACHE,MUC12 dist=114101;dist=5262 NA NA ncRNA_intronic ENSG00000225946 NA NA NA NA NA 7q22.1 NA NA NA NA rs4989164 NA NA NA 0.509185 0.507 0.499 0.5202 0.5008 0.5256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205423 NA NA NA NA NA NA NA 3.493 1303 7 100607646 100607646 T C intergenic ACHE,MUC12 dist=114105;dist=5258 NA NA ncRNA_intronic ENSG00000225946 NA NA NA NA NA 7q22.1 NA NA NA NA rs4989163 NA NA NA 0.509185 0.507 0.499 0.5202 0.5008 0.5256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595937 NA NA NA NA NA NA NA 3.493 1303 11 68830226 68830226 G A intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs10792015 0.4 0.4 0.425 0.357228 0.507 0.2877 0.3415 0.4077 0.2178 0.49 0.29 0.37 0.42 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833712 NA NA NA NA NA 0.406 NA 3.493 1303 16 2259766 2259766 A G intronic BRICD5 NA NA NA intronic ENSG00000182685 NA NA NA NA NA 16p13.3 NA NA NA NA rs26858 0.6 0.6 0.568 0.591454 0.507 0.621 0.5648 0.6702 0.5603 0.51 0.63 0.55 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484911 NA NA NA NA NA 0.536 NA 3.493 1303 19 54687334 54687334 C G intronic MBOAT7 NA NA NA intronic ENSG00000125505 NA NA NA NA NA 19q13.42 NA NA NA NA rs254283 0.42 0.42 0.418 0.430112 0.507 0.2817 0.3862 0.4024 0.5726 0.51 0.3 0.39 0.45 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1835 NA NA NA NA NA 0.543 NA 3.493 1303 4 170987636 170987636 A G intronic AADAT NA NA NA intronic ENSG00000109576 NA NA NA Score=343;Name=lod=33 NA 4q33 NA NA NA NA rs1480544 0.7 0.7 0.716 0.735423 0.4493 0.9911 0.5259 0.8941 0.7004 0.43 0.99 0.52 0.89 0.5744 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102478 NA NA 0.483488 0.838175 NA 0.71 NA 3.492812 1303 12 100717260 100717260 A T intronic SCYL2 NA NA NA intronic ENSG00000136021 NA NA NA NA NA 12q23.1 NA NA NA NA rs11110340 0.08 0.08 0.079 0.0754792 0.1998 0.003 0.0994 0.0068 0.0982 0.18 0.0035 0.09 0.01 0.1304 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602988 NA NA 0.177333 0.035893 NA 0.094 NA 3.492467 1303 14 101442793 101442793 T C upstream;downstream SNORD114-19;SNORD114-18 NA NA NA ncRNA_intronic ENSG00000271417 NA NA NA NA NA 14q32.31 NA NA NA NA rs12895798 0.13 0.13 0.119 0.105831 0.2445 0.0635 0.1383 0.0106 0.1125 0.24 0.07 0.17 0.01 0.1739 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897402 NA NA 0.255902 0.057078 NA 0.225 NA 3.4923646 1303 5 169702390 169702390 C A intronic LCP2 NA NA NA intronic ENSG00000043462 NA NA NA NA NA 5q35.1 Score=799;Name=V$SRF_01 NA NA NA rs2271146 0.33 0.33 0.311 0.3127 0.5408 0.0714 0.3991 0.2239 0.3855 0.53 0.08 0.44 0.23 0.4392 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918128 NA NA 0.527657 0.259761 NA 0.333 NA 3.492343 1303 1 144854412 144854412 A C intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs2258448 NA NA NA 0.506789 0.508 0.5188 0.5014 0.5008 0.5051 NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803268 NA NA NA NA NA 0.087 NA 3.492 1303 4 40350763 40350763 T C intronic CHRNA9 NA NA NA intronic ENSG00000174343 NA NA NA NA NA 4p14 NA NA NA NA rs10029872 0.52 0.52 0.499 0.509784 0.508 0.7946 0.4582 0.2542 0.6002 0.52 0.79 0.44 0.27 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597059 NA NA NA NA NA 0.377 NA 3.492 1303 11 60783108 60783108 C T intronic CD6 NA NA NA intronic ENSG00000013725 NA NA NA NA NA 11q12.2 NA NA NA NA rs2074229 0.6 0.6 0.557 0.594649 0.508 0.8264 0.6974 0.3442 0.7106 0.52 0.85 0.65 0.39 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596014 NA NA NA NA NA 0.638 NA 3.492 1303 20 3008239 3008239 C T intronic PTPRA NA NA NA intronic ENSG00000132670 NA NA NA NA NA 20p13 NA NA NA NA rs613309 0.7 0.7 0.694 0.708466 0.508 0.8978 0.7161 0.6959 0.7311 0.52 0.92 0.72 0.69 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993313 NA NA NA NA NA 0.638 NA 3.492 1303 18 59203707 59203707 G A intronic CDH20 NA NA NA intronic ENSG00000101542 NA NA NA NA NA 18q21.33 NA NA NA NA rs62097360 0.12 0.12 0.116 0.103634 0.1958 0.0665 0.1066 0.0265 0.1493 0.19 0.08 0.15 0.03 0.136 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.444789 NA NA 0.176628 0.045166 NA 0.065 NA 3.491572 1303 10 26781355 26781355 T C intronic APBB1IP NA NA NA intronic ENSG00000077420 NA NA NA NA NA 10p12.1 NA NA NA NA rs1775245 0.14 0.14 0.124 0.123203 0.1799 0.004 0.1571 0.1967 0.0644 0.18 0.01 0.16 0.2 0.1527 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.544615 1.544615 NA 0.176163 0.182932 NA 0.109 NA 3.491237 1303 2 231738318 231738318 T C intronic ITM2C NA NA NA intronic ENSG00000135916 NA NA NA NA NA 2q37.1 NA Name=ZEB1_(SC-25388) NA NA rs3816150 0.54 0.54 0.498 0.510383 0.505 0.8155 0.5331 0.2277 0.5675 0.51 0.82 0.49 0.28 0.5187 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26297 NA NA 0.485109 0.250568 NA 0.399 NA 3.491191 1303 5 127625559 127625559 T C intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA NA NA 5q23.3 NA NA NA NA rs56131649 0.14 0.14 0.118 0.144169 0.1511 0.1687 0.2695 0.0234 0.1861 0.15 0.17 0.21 0.03 0.1968 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241384 NA NA 0.160926 0.058783 NA 0.101 NA 3.491174 1303 1 12854713 12854713 G T intronic PRAMEF1 NA NA NA intronic ENSG00000116721 NA NA NA NA NA 1p36.21 NA NA NA NA rs11121979 0.46 0.46 0.459 0.429513 0.5089 0.2718 0.5605 0.4478 0.3926 0.53 0.3 0.56 0.46 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820714 NA NA NA NA NA 0.101 NA 3.4911 1303 1 18467153 18467153 C T intronic IGSF21 NA NA NA intronic ENSG00000117154 NA NA NA NA NA 1p36.13 NA NA NA NA rs2005010 0.46 0.46 0.437 0.46226 0.5089 0.5208 0.5216 0.2716 0.5695 0.5 0.55 0.52 0.25 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595545 NA NA NA NA NA 0.435 NA 3.4911 1303 2 62576375 62576375 G C intergenic B3GNT2,TMEM17 dist=124509;dist=150981 NA NA ncRNA_exonic ENSG00000270335 NA NA NA NA NA 2p15 NA NA NA NA rs3935828 0.4 0.4 0.418 0.392572 0.5089 0.3026 0.3444 0.3268 0.4888 0.52 0.36 0.35 0.31 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.039678 3.039678 NA NA NA NA 0.514 NA 3.4911 1303 2 136616754 136616754 C T intronic MCM6 NA NA NA intronic ENSG00000076003 NA NA NA NA NA 2q21.3 NA NA NA NA rs182549 0.23 0.23 0.195 0.163339 0.5089 NA 0.2205 0.0272 0.1196 0.52 NA 0.26 0.04 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938007 NA NA NA NA NA 0.304 NA 3.4911 1303 12 30814259 30814259 C T intronic IPO8 NA NA NA intronic ENSG00000133704 NA NA NA NA NA 12p11.21 NA NA NA NA rs10771753 0.49 0.49 0.512 0.49401 0.5089 0.4484 0.2925 0.7012 0.3885 0.52 0.45 0.29 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308442 NA NA NA NA NA 0.362 NA 3.4911 1303 11 13733401 13733401 C T intronic FAR1 NA NA NA intronic ENSG00000197601 NA NA NA NA NA 11p15.2 NA NA NA NA rs7934570 0.12 0.12 0.105 0.148562 0.171 0.0397 0.134 0.1301 0.273 0.16 0.03 0.15 0.15 0.1623 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580531 NA NA 0.175729 0.125399 NA 0.116 NA 3.490971 1303 17 1680002 1680002 T C exonic SERPINF1 NA synonymous SNV SERPINF1:NM_002615:exon7:c.T963C:p.Y321Y exonic ENSG00000132386 NA synonymous SNV ENSG00000132386:ENST00000573763:exon3:c.T357C:p.Y119Y,ENSG00000132386:ENST00000254722:exon7:c.T963C:p.Y321Y NA NA 17p13.3 NA NA NA NA rs6828 0.79 0.79 0.813 0.776757 0.7386 0.7758 0.7565 0.9198 0.638 0.76 0.78 0.71 0.92 0.7292 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771448 NA NA 0.707907 0.891512 NA 0.746 NA 3.4909596 1303 20 3778433 3778433 T C intronic CDC25B NA NA NA intronic ENSG00000101224 NA NA NA NA NA 20p13 NA Name=ZNF263 NA NA rs3746644 0.64 0.64 0.638 0.652556 0.4771 0.7044 0.6628 0.8434 0.5143 0.48 0.71 0.6 0.84 0.5487 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53652 NA NA 0.483252 0.780073 NA 0.638 NA 3.490948 1303 1 21896767 21896767 C T intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs1256328 0.15 0.15 0.157 0.155551 0.1809 0.1845 0.121 0.09 0.2127 0.17 0.18 0.14 0.09 0.1643 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796454 NA NA 0.16407 0.096232 NA 0.203 NA 3.49073 1303 6 26466225 26466225 A C intronic BTN2A1 NA NA NA intronic ENSG00000112763 NA NA NA NA NA 6p22.2 NA Name=CEBPB NA NA rs1977198 0.46 0.46 0.448 0.459065 0.4851 0.7044 0.5476 0.0961 0.6074 0.5 0.69 0.49 0.11 0.5091 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360633 NA NA 0.515233 0.163414 NA 0.297 NA 3.490567 1303 13 110866065 110866065 C T intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs3737328 0.25 0.25 0.258 0.226438 0.2684 0.2897 0.1888 0.202 0.1779 0.27 0.31 0.19 0.2 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280213 NA NA 0.241043 0.209538 NA 0.21 NA 3.490557 1303 5 1394815 1394815 A G UTR3 SLC6A3 NM_001044:c.*35T>C NA NA UTR3 ENSG00000142319 ENST00000270349:c.*35T>C,ENST00000453492:c.*35T>C,ENST00000512002:c.*35T>C NA NA NA NA 5p15.33 NA NA NA NA rs1042098 0.28 0.28 0.286 0.295128 0.3141 0.1081 0.2464 0.5 0.226 0.3 0.1 0.28 0.46 0.2545 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.953535 NA NA 0.274186 0.44099 NA 0.21 NA 3.4905474 1303 14 101431216 101431216 C G downstream SNORD114-8 NA NA NA ncRNA_intronic ENSG00000232018 NA NA NA NA NA 14q32.31 NA NA NA NA rs34144313 0.13 0.13 0.125 0.105831 0.2455 0.0625 0.1383 0.0106 0.1125 0.24 0.07 0.17 0.01 0.174 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975424 NA NA 0.256655 0.057078 NA 0.225 NA 3.4905116 1303 6 57398335 57398335 A T intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA NA NA NA rs4715745 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5095 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670583 NA NA NA NA NA 0.449 NA 3.4905 1303 7 1474799 1474799 A G intronic MICALL2 NA NA NA intronic ENSG00000164877 NA NA NA NA NA 7p22.3 NA NA NA NA rs67046940 0.24 0.24 0.208 0.251597 0.1441 0.0288 0.3084 0.5492 0.1493 0.14 0.04 0.31 0.58 0.1997 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130684 NA NA 0.165853 0.47592 NA 0.29 NA 3.490347 1303 19 37966923 37966923 C T intronic ZNF570 NA NA NA intronic ENSG00000171827 NA NA NA NA NA 19q13.12 NA NA NA NA rs4801803 0.24 0.24 0.224 0.256989 0.1511 0.248 0.1974 0.3018 0.3569 0.15 0.28 0.22 0.36 0.1971 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.81282 2.81282 NA 0.161512 0.266682 NA 0.232 NA 3.490288 1303 6 33648097 33648097 A G intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs9469554 0.12 0.12 0.1 0.100839 0.1789 0.0526 0.1686 0.0635 0.0726 0.18 0.06 0.15 0.05 0.1514 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0895 NA NA 0.179419 0.076033 NA 0.101 NA 3.490281 1303 2 33623306 33623306 C T intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs2034693 0.51 0.51 0.5 0.482228 0.5099 0.6181 0.4308 0.4319 0.4182 0.51 0.61 0.41 0.46 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245441 NA NA NA NA NA 0.478 NA 3.4901 1303 3 97605677 97605677 A G intronic CRYBG3 NA NA NA intronic ENSG00000080200 NA NA NA NA NA 3q11.2 NA NA NA NA rs831902 0.51 0.51 0.491 0.482628 0.5099 0.6925 0.5072 0.2625 0.5184 0.52 0.73 0.45 0.26 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244823 NA NA NA NA NA 0.464 NA 3.4901 1303 10 37283882 37283882 G A intergenic FZD8,ANKRD30A dist=1353520;dist=130903 NA NA upstream ENSG00000225355 NA NA NA NA NA 10p11.21 NA NA NA NA rs73238696 0.04 0.04 0.056 0.0515176 0.0099 NA 0.0159 0.1793 NA 0.01 NA 0.01 0.16 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511228 NA NA NA NA NA 0.043 NA 3.4901 1303 10 124338946 124338946 G T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs1969619 0.51 0.51 0.501 0.494209 0.5099 0.5218 0.5202 0.4841 0.4448 0.51 0.49 0.54 0.52 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555111 NA NA NA NA NA 0.565 NA 3.4901 1303 17 600502 600502 C T intronic VPS53 NA NA NA intronic ENSG00000141252 NA NA NA NA NA 17p13.3 NA NA NA NA rs2657633 0.31 0.31 0.283 0.311102 0.5099 0.119 0.4049 0.0832 0.546 0.51 0.13 0.42 0.12 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.322287 1.322287 NA NA NA NA 0.297 NA 3.4901 1303 17 6831407 6831407 T G intergenic ALOX12P2,LOC100506713 dist=27739;dist=57035 NA NA ncRNA_exonic ENSG00000262503 NA NA NA NA NA 17p13.1 NA NA NA NA rs311743 0.53 0.53 0.533 0.556709 0.5099 0.4851 0.389 0.6853 0.6237 0.51 0.46 0.46 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035643 NA NA NA NA NA 0.536 NA 3.4901 1303 4 88533445 88533445 T C intronic DSPP NA NA NA ncRNA_intronic ENSG00000249001 NA NA NA NA NA 4q22.1 NA NA NA NA rs13131936 0.21 0.21 0.208 0.21865 0.2962 0.2391 0.2061 0.0703 0.3272 0.3 0.21 0.2 0.07 0.2585 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484409 NA NA 0.288664 0.096713 NA 0.261 NA 3.4899693 1303 17 37453485 37453485 T C intronic FBXL20 NA NA NA intronic ENSG00000108306 NA NA NA NA NA 17q12 NA NA NA NA rs594794 0.23 0.23 0.208 0.229633 0.162 0.2431 0.2363 0.379 0.0787 0.16 0.23 0.22 0.35 0.1785 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167695 NA NA 0.16973 0.366031 NA 0.196 NA 3.48977 1303 6 170140184 170140184 T C downstream TCTE3 NA NA NA downstream ENSG00000184786 NA NA NA NA NA 6q27 NA NA NA NA rs9383520 0.3 0.3 0.279 0.292532 0.1769 0.6419 0.366 0.1437 0.2004 0.17 0.62 0.32 0.12 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05279 NA NA NA NA NA 0.188 NA 3.4897666 1303 12 130830906 130830906 C T intronic PIWIL1 NA NA NA intronic ENSG00000125207 NA NA NA NA NA 12q24.33 NA NA NA NA rs11060836 0.16 0.16 0.14 0.181909 0.1819 0.0833 0.0865 0.2602 0.2454 0.17 0.1 0.1 0.25 0.1647 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.234348 1.234348 NA 0.16407 0.213799 NA 0.196 NA 3.48933 1303 12 123799974 123799974 A G exonic SBNO1 NA synonymous SNV SBNO1:NM_001167856:exon22:c.T3066C:p.G1022G,SBNO1:NM_018183:exon22:c.T3063C:p.G1021G exonic ENSG00000139697 NA synonymous SNV ENSG00000139697:ENST00000267176:exon22:c.T3063C:p.G1021G,ENSG00000139697:ENST00000420886:exon22:c.T3066C:p.G1022G,ENSG00000139697:ENST00000602398:exon23:c.T3066C:p.G1022G,ENSG00000139697:ENST00000602750:exon23:c.T3063C:p.G1021G NA NA 12q24.31 NA NA NA NA rs6488868 0.73 0.73 0.705 0.685104 0.7217 0.9544 0.6916 0.4523 0.68 0.71 0.96 0.69 0.5 0.7088 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673555 NA NA 0.74686 0.485928 NA 0.536 NA 3.4893066 1303 11 72290199 72290199 G A intronic PDE2A NA NA NA intronic ENSG00000186642 NA NA NA NA NA 11q13.4 NA NA NA NA rs11605051 0.33 0.33 0.325 0.314497 0.5109 0.2431 0.3184 0.1672 0.3824 0.49 0.22 0.37 0.18 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304098 NA NA NA NA NA 0.355 NA 3.4891 1303 12 10313265 10313265 C T intronic OLR1 NA NA NA intronic ENSG00000173391 NA NA NA NA NA 12p13.2 NA NA NA NA rs3736233 0.35 0.35 0.31 0.31869 0.5109 0.2381 0.5403 0.1732 0.2434 0.5 0.23 0.48 0.15 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07136 NA NA NA NA NA 0.355 NA 3.4891 1303 16 55612918 55612918 T A intronic LPCAT2 NA NA NA intronic ENSG00000087253 NA NA NA NA NA 16q12.2 NA NA NA NA rs4784549 0.65 0.65 0.662 0.689696 0.5109 0.7421 0.5144 0.8313 0.7526 0.49 0.73 0.55 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001914 NA NA NA NA NA 0.717 NA 3.4891 1303 22 26891823 26891823 C G intronic TFIP11 NA NA NA intronic ENSG00000100109 NA NA NA NA NA 22q12.1 NA NA NA NA rs4822729 0.45 0.45 0.434 0.41873 0.5109 0.5069 0.4481 0.3222 0.3425 0.52 0.46 0.44 0.33 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.104965 NA NA NA NA NA 0.384 NA 3.4891 1303 19 47342717 47342717 C T intronic AP2S1 NA NA NA intronic ENSG00000042753 NA NA NA NA NA 19q13.32 NA NA NA NA rs312186 0.32 0.32 0.307 0.359225 0.1282 0.503 0.3963 0.413 0.3497 0.13 0.47 0.35 0.43 0.2412 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820883 NA NA 0.141512 0.359283 NA 0.283 NA 3.489088 1303 7 100731829 100731829 T C exonic TRIM56 NA synonymous SNV TRIM56:NM_030961:exon3:c.T1236C:p.A412A exonic ENSG00000169871 NA synonymous SNV ENSG00000169871:ENST00000306085:exon3:c.T1236C:p.A412A NA NA 7q22.1 NA NA NA NA rs6948536 0.72 0.72 0.77 0.708466 0.7455 0.5496 0.5418 0.9614 0.6104 0.75 0.57 0.61 0.95 0.6916 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.586019 NA NA 0.740657 0.927667 ID=COSM1568188,COSM1568189;OCCURENCE=1(large_intestine) 0.732 NA 3.4889096 1303 8 3565900 3565900 C T intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs12674750 0.18 0.18 0.182 0.20607 0.1541 0.2391 0.1585 0.2163 0.2454 0.14 0.23 0.16 0.21 0.1896 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4932 NA NA 0.167429 0.195696 NA 0.152 NA 3.488871 1303 4 66280171 66280171 C T intronic EPHA5 NA NA NA intronic ENSG00000145242 NA NA NA NA NA 4q13.1 NA NA NA NA rs2305351 0.18 0.18 0.129 0.180911 0.172 0.2857 0.2997 0.0159 0.2209 0.16 0.28 0.25 0.02 0.1895 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661689 NA NA 0.149884 0.041307 ID=COSM149681;OCCURENCE=1(stomach) 0.261 NA 3.488616 1303 1 16378649 16378649 C G intronic CLCNKB NA NA NA intronic ENSG00000184908 NA NA NA NA NA 1p36.13 NA NA NA NA rs2297726 0.16 0.16 0.141 0.16254 0.172 0.2877 0.147 0.0492 0.1881 0.17 0.25 0.12 0.07 0.1724 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066221 NA NA 0.167016 0.073082 NA 0.087 NA 3.488584 1303 14 24738379 24738379 T C intronic RABGGTA NA NA NA intronic ENSG00000100949 NA NA NA NA NA 14q12 NA NA NA NA rs59227799 0.14 0.14 0.097 0.140974 0.1531 0.003 0.3545 0.1475 0.1104 0.17 0.01 0.3 0.14 0.1979 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.230096 NA NA 0.160472 0.136809 NA 0.109 NA 3.488528 1303 1 209779652 209779652 T G intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs35498535 0.18 0.18 0.169 0.1873 0.1819 0.12 0.2032 0.3283 0.0603 0.17 0.12 0.14 0.31 0.161 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348334 NA NA 0.168953 0.295506 NA 0.109 NA 3.488147 1303 6 155561564 155561564 C T intronic TIAM2 NA NA NA intronic ENSG00000146426 NA NA NA NA NA 6q25.3 NA NA NA NA rs11751085 0.31 0.31 0.303 0.308706 0.5119 0.0099 0.33 0.3495 0.3374 0.5 0.01 0.36 0.35 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882946 NA NA NA NA NA 0.5 NA 3.4881 1303 10 129864515 129864515 C T intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA NA NA NA rs10764743 0.44 0.44 0.43 0.420128 0.5119 0.4127 0.5072 0.2708 0.4734 0.51 0.42 0.54 0.29 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091351 NA NA NA NA ID=COSN163827;OCCURENCE=1(breast) 0.435 NA 3.4881 1303 11 95520695 95520695 T C intronic FAM76B NA NA NA intronic ENSG00000077458 NA NA NA NA NA 11q21 NA NA NA NA rs1313288 0.57 0.57 0.56 0.575479 0.5119 0.3442 0.4942 0.9198 0.4714 0.51 0.39 0.54 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531556 NA NA NA NA NA 0.587 NA 3.4881 1303 12 10313134 10313134 G A intronic OLR1 NA NA NA intronic ENSG00000173391 NA NA NA NA NA 12p13.2 NA NA NA NA rs3736234 0.35 0.35 0.317 0.31889 0.5119 0.2381 0.5403 0.1732 0.2434 0.5 0.23 0.48 0.15 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.424236 1.424236 NA NA NA NA 0.355 NA 3.4881 1303 15 98514282 98514282 A G intronic ARRDC4 NA NA NA intronic ENSG00000140450 NA NA NA NA NA 15q26.3 NA NA NA NA rs62023730 0.49 0.49 0.483 0.495807 0.5119 0.5486 0.5303 0.3026 0.6616 0.52 0.56 0.51 0.34 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052918 NA NA NA NA NA 0.536 NA 3.4881 1303 16 8992828 8992828 G T intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA NA NA rs2289109 0.44 0.44 0.445 0.428914 0.5119 0.5823 0.4193 0.2383 0.4499 0.51 0.58 0.4 0.21 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22987 NA NA NA NA NA 0.377 NA 3.4881 1303 1 167817639 167817639 A G exonic ADCY10 NA synonymous SNV ADCY10:NM_001167749:exon16:c.T1938C:p.G646G,ADCY10:NM_018417:exon19:c.T2397C:p.G799G exonic ENSG00000143199 NA synonymous SNV ENSG00000143199:ENST00000545172:exon16:c.T1938C:p.G646G,ENSG00000143199:ENST00000367848:exon19:c.T2121C:p.G707G,ENSG00000143199:ENST00000367851:exon19:c.T2397C:p.G799G NA NA 1q24.2 NA NA NA NA rs203795 0.81 0.81 0.814 0.822085 0.7137 0.8571 0.8372 0.9297 0.7413 0.71 0.84 0.81 0.93 0.7555 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847489 NA NA 0.709651 0.897413 ID=COSM424500;OCCURENCE=1(breast) 0.855 NA 3.4878156 1303 10 28409614 28409614 C G intronic MPP7 NA NA NA intronic ENSG00000150054 NA NA NA NA NA 10p12.1 NA NA NA NA rs7903192 0.39 0.39 0.36 0.400759 0.1252 0.7728 0.3919 0.3185 0.4182 0.13 0.86 0.35 0.29 0.2627 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061178 NA NA 0.124302 0.335225 NA 0.319 NA 3.487798 1303 15 52667450 52667450 T C intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs3816449 0.17 0.17 0.156 0.14996 0.1859 0.1716 0.1527 0.0983 0.1585 0.18 0.19 0.19 0.1 0.1556 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247796 NA NA 0.170914 0.10805 NA 0.174 NA 3.487586 1303 7 1474342 1474342 A T intronic MICALL2 NA NA NA intronic ENSG00000164877 NA NA NA NA NA 7p22.3 NA NA NA NA rs9986863 0.24 0.24 0.207 0.251398 0.1441 0.0288 0.3069 0.5492 0.1493 0.14 0.04 0.31 0.58 0.2031 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162903 NA NA 0.165698 0.475034 NA 0.297 NA 3.487102 1303 2 160076026 160076026 C G intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA NA NA rs2303334 0.25 0.25 0.234 0.194888 0.5129 0.0476 0.2867 0.0234 0.1861 0.51 0.05 0.32 0.04 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538127 NA NA NA NA NA 0.29 NA 3.4871 1303 2 160076077 160076077 T A intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA NA NA rs2303335 0.25 0.25 0.234 0.194888 0.5129 0.0476 0.2867 0.0234 0.1861 0.51 0.05 0.32 0.04 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885807 NA NA NA NA NA 0.268 NA 3.4871 1303 6 52660867 52660867 C T intronic GSTA1 NA NA NA intronic ENSG00000243955 NA NA NA NA NA 6p12.2 NA NA NA NA rs2290757 0.48 0.48 0.409 0.465655 0.5129 0.6825 0.6239 0.1082 0.5644 0.51 0.69 0.6 0.12 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471392 NA NA NA NA NA 0.449 NA 3.4871 1303 8 6973602 6973602 T G intergenic DEFA5,LOC349196 dist=59343;dist=144539 NA NA upstream ENSG00000216206 NA NA NA NA NA 8p23.1 NA NA NA NA rs28670605 0.05 0.05 0.055 0.0611022 0.0129 0.0109 0.0144 0.1906 0.0204 0.01 0.02 0.01 0.19 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727924 NA NA NA NA NA 0.007 NA 3.4871 1303 8 120583148 120583148 G A intronic ENPP2 NA NA NA intronic ENSG00000136960 NA NA NA NA NA 8q24.12 NA NA NA NA rs2305125 0.6 0.6 0.596 0.646965 0.5129 0.6171 0.6787 0.6422 0.7996 0.52 0.62 0.59 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617443 NA NA NA NA NA 0.486 NA 3.4871 1303 11 1857930 1857930 G A intronic SYT8 NA NA NA intronic ENSG00000149043 NA NA NA NA NA 11p15.5 NA NA NA NA rs3741229 0.43 0.43 0.393 0.433307 0.5129 0.374 0.4424 0.3124 0.5695 0.52 0.4 0.47 0.31 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214982 NA NA NA NA NA 0.362 NA 3.4871 1303 22 31664032 31664032 C T intronic LIMK2 NA NA NA intronic ENSG00000182541 NA NA NA NA NA 22q12.2 NA NA NA NA rs5997929 0.29 0.29 0.268 0.280551 0.5129 0.0685 0.3256 0.1619 0.3885 0.5 0.07 0.37 0.18 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16535 NA NA NA NA NA 0.268 NA 3.4871 1303 16 20629514 20629514 C A intergenic ACSM2B,ACSM1 dist=41819;dist=5045 NA NA intronic ENSG00000005187 NA NA NA NA NA 16p12.3 NA NA NA NA rs3883991 0.31 0.31 0.327 0.346446 0.1799 0.3482 0.1916 0.5431 0.3599 0.2 0.34 0.2 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959594 NA NA NA NA NA 0.355 NA 3.4867667 1303 15 52708534 52708534 T G intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs11856752 0.16 0.16 0.153 0.146565 0.1779 0.1766 0.1542 0.0893 0.1554 0.18 0.19 0.19 0.09 0.1643 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803261 NA NA 0.171218 0.101381 NA 0.145 NA 3.486582 1303 1 34038006 34038006 T C intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA rs1493992 NA NA NA 0.521765 0.5139 0.4256 0.6643 0.5431 0.499 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793569 NA NA NA NA NA NA NA 3.4861 1303 6 10514880 10514880 G T intergenic MIR5689,GCNT2 dist=74853;dist=6688 NA NA ncRNA_exonic ENSG00000216359 NA NA NA NA NA 6p24.3 NA NA NA NA rs647447 0.64 0.64 0.64 0.653754 0.5139 0.6528 0.5706 0.767 0.7045 0.52 0.67 0.56 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376858 NA NA NA NA NA 0.63 NA 3.4861 1303 19 32899074 32899074 G A intronic DPY19L3 NA NA NA intronic ENSG00000178904 NA NA NA NA NA 19q13.11 NA NA NA NA rs741441 0.32 0.32 0.307 0.265974 0.5139 0.1746 0.3055 0.1097 0.2883 0.52 0.17 0.37 0.14 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512104 NA NA NA NA NA 0.399 NA 3.4861 1303 21 44195374 44195374 G A intronic PDE9A NA NA NA intronic ENSG00000160191 NA NA NA NA NA 21q22.3 NA NA NA NA rs9637296 0.16 0.16 0.149 0.180112 0.167 0.1002 0.1499 0.2012 0.2689 0.16 0.11 0.16 0.21 0.1772 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.251041 NA NA 0.169767 0.201997 NA 0.152 NA 3.486033 1303 1 157718645 157718645 T C intronic FCRL2 NA NA NA intronic ENSG00000132704 NA NA NA NA NA 1q23.1 NA NA NA NA rs2275233 0.21 0.21 0.197 0.197284 0.1968 0.25 0.1974 0.2496 0.0726 0.18 0.23 0.2 0.22 0.1595 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327474 NA NA 0.157674 0.22946 NA 0.232 NA 3.486026 1303 19 41798111 41798111 A G intronic HNRNPUL1 NA NA NA intronic ENSG00000105323 NA NA NA NA NA 19q13.2 NA NA NA NA rs3752705 0.24 0.24 0.246 0.240815 0.173 0.3482 0.1974 0.2905 0.1636 0.17 0.33 0.22 0.28 0.182 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389794 NA NA 0.159535 0.276668 NA 0.225 NA 3.485465 1303 13 39430443 39430443 G A intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs9548510 0.22 0.22 0.21 0.273163 0.1421 0.0952 0.3098 0.5129 0.2413 0.13 0.1 0.26 0.5 0.2126 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.336272 1.336272 NA 0.16 0.488425 NA 0.283 NA 3.4853 1303 22 18918760 18918760 T C intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA NA NA rs67625420 0.18 0.18 0.187 0.186701 0.1769 0.0188 0.1643 0.3638 0.1462 0.17 0.02 0.18 0.39 0.1659 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51435 NA NA 0.172068 0.327578 NA 0.333 NA 3.485132 1303 1 15832383 15832383 G T intronic CASP9 NA NA NA intronic ENSG00000132906 NA NA NA NA NA 1p36.21 NA NA NA NA rs1800614 0.6 0.6 0.612 0.584665 0.5149 0.6538 0.4986 0.739 0.4376 0.54 0.63 0.5 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.789596 1.789596 NA NA NA NA 0.442 NA 3.4851 1303 1 15834491 15834491 G A intronic CASP9 NA NA NA intronic ENSG00000132906 NA NA NA NA NA 1p36.21 NA NA NA NA rs4646032 0.6 0.6 0.608 0.584265 0.5149 0.6538 0.4986 0.739 0.4356 0.54 0.63 0.5 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256981 NA NA NA NA NA 0.435 NA 3.4851 1303 1 70996698 70996698 G A intergenic CTH,PTGER3 dist=91164;dist=321338 NA NA ncRNA_exonic ENSG00000233020 NA NA NA NA NA 1p31.1 NA NA NA NA rs2807905 0.34 0.34 0.332 0.326677 0.5149 0.1111 0.3213 0.3056 0.3875 0.53 0.09 0.37 0.33 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183103 NA NA NA NA NA 0.275 NA 3.4851 1303 6 29149605 29149605 G T intergenic OR2J2,OR14J1 dist=7254;dist=124862 NA NA ncRNA_exonic ENSG00000224233 NA NA NA NA NA 6p22.1 NA NA NA NA rs3116818 0.36 0.36 0.319 0.316693 0.5149 0.3512 0.4035 0.0408 0.3885 0.54 0.35 0.42 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240675 NA NA NA NA NA 0.239 NA 3.4851 1303 9 37708307 37708307 A C intronic FRMPD1 NA NA NA intronic ENSG00000070601,ENSG00000255872 NA NA NA NA NA 9p13.2 NA NA NA NA rs2296555 0.58 0.58 0.529 0.577276 0.5149 0.7778 0.6023 0.4985 0.5235 0.52 0.79 0.57 0.46 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202717 NA NA NA NA NA 0.464 NA 3.4851 1303 10 30978274 30978274 T C intergenic LYZL2,ZNF438 dist=59627;dist=155291 NA NA ncRNA_intronic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA NA NA rs4988769 NA NA 0.196 0.537141 0.5149 0.503 0.5303 0.5688 0.5573 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022115 NA NA NA NA NA 0.051 NA 3.4851 1303 20 2818801 2818801 T C intronic PCED1A NA NA NA intronic ENSG00000132635 NA NA NA NA NA 20p13 NA NA NA NA rs751899 0.73 0.73 0.722 0.771166 0.5149 0.87 0.732 0.882 0.8108 0.53 0.9 0.73 0.87 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275307 NA NA NA NA NA 0.717 NA 3.4851 1303 9 34618641 34618641 C T intronic DCTN3 NA NA NA intronic ENSG00000137100 NA NA NA NA NA 9p13.3 NA NA NA NA rs3802427 0.23 0.23 0.22 0.222045 0.1541 0.3115 0.2594 0.1952 0.2096 0.16 0.35 0.24 0.19 0.1929 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648379 NA NA 0.167907 0.195415 NA 0.152 NA 3.485093 1304 5 148618749 148618749 C T intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs59032271 0.41 0.41 0.392 0.41893 0.3877 0.5942 0.3746 0.3283 0.4243 0.38 0.55 0.35 0.35 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039522 NA NA 0.460717 0.330202 NA 0.428 NA 3.4849163 1304 5 148618752 148618752 G A intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs59757169 0.41 0.41 0.404 0.41893 0.3877 0.5942 0.3746 0.3283 0.4243 0.38 0.55 0.35 0.35 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943225 NA NA 0.460717 0.330925 NA 0.428 NA 3.4849163 1304 17 39471972 39471972 T G upstream KRTAP17-1 NA NA NA upstream ENSG00000186860 NA NA NA NA NA 17q21.2 NA NA NA NA rs12452669 0.2 0.2 0.188 0.188299 0.1819 0.3175 0.1354 0.1354 0.1708 0.18 0.31 0.14 0.14 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.101014 NA NA NA NA NA 0.152 NA 3.4847666 1304 1 157718325 157718325 T G intronic FCRL2 NA NA NA intronic ENSG00000132704 NA NA NA NA NA 1q23.1 NA NA NA NA rs3818813 0.21 0.21 0.201 0.197284 0.1968 0.25 0.1974 0.2496 0.0726 0.18 0.23 0.2 0.22 0.159 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695808 NA NA 0.159535 0.229914 NA 0.225 NA 3.484665 1304 3 49373045 49373045 A G intronic USP4 NA NA NA intronic ENSG00000114316 NA NA NA NA NA 3p21.31 NA NA NA NA rs34514189 0.13 0.13 0.115 0.0910543 0.1988 0.0496 0.098 0.0651 0.0532 0.2 0.07 0.14 0.08 0.1434 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.60411 2.60411 NA 0.17314 0.09714 NA 0.196 NA 3.48466 1304 1 157718430 157718430 T G intronic FCRL2 NA NA NA intronic ENSG00000132704 NA NA NA NA NA 1q23.1 NA NA NA NA rs2275232 0.21 0.21 0.2 0.197284 0.1968 0.25 0.1974 0.2496 0.0726 0.18 0.23 0.2 0.22 0.1591 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.247209 2.247209 NA 0.159535 0.230595 NA 0.232 NA 3.484565 1304 15 101888081 101888081 C T intronic PCSK6 NA NA NA intronic ENSG00000140479 NA NA NA NA NA 15q26.3 NA NA NA NA rs875293 0.51 0.51 0.488 0.481829 0.5159 0.629 0.6542 0.2776 0.4489 0.51 0.66 0.6 0.3 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87145 NA NA NA NA NA 0.457 NA 3.4841 1304 18 50731823 50731823 T C intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs2298606 0.39 0.39 0.355 0.340056 0.5159 0.1548 0.3703 0.3994 0.2485 0.53 0.13 0.41 0.44 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841704 NA NA NA NA NA 0.406 NA 3.4841 1304 22 45741543 45741543 G C intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs5765260 0.36 0.36 0.341 0.301118 0.5159 0.3165 0.4827 0.0454 0.2812 0.52 0.37 0.44 0.06 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819082 NA NA NA NA NA 0.203 NA 3.4841 1304 16 84497186 84497186 C T intronic ATP2C2 NA NA NA ncRNA_intronic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs2241634 0.23 0.23 0.215 0.215655 0.3211 0.1935 0.2089 0.2126 0.1391 0.31 0.15 0.24 0.2 0.2425 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774618 NA NA 0.286094 0.218572 ID=COSN165279;OCCURENCE=1(breast) 0.297 NA 3.4836393 1304 1 150974162 150974162 G A intronic FAM63A NA NA NA intronic ENSG00000143409 NA NA NA NA NA 1q21.3 NA Name=PU.1,c-Jun,USF2 Name=27 NA rs771204 0.82 0.82 0.811 0.822484 0.83 0.8413 0.8833 0.7254 0.8834 0.83 0.83 0.88 0.75 0.8361 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53719 NA NA 0.850349 0.755334 NA 0.848 NA 3.483551 1304 1 157718780 157718780 A G intronic FCRL2 NA NA NA intronic ENSG00000132704 NA NA NA NA NA 1q23.1 NA NA NA NA rs3818814 0.21 0.21 0.195 0.197284 0.1968 0.25 0.1974 0.2496 0.0726 0.18 0.23 0.2 0.22 0.1604 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.140774 2.140774 NA 0.159419 0.229687 NA 0.232 NA 3.483381 1304 8 62531670 62531670 T C intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs35550451 0.5 0.5 0.507 0.448083 0.5169 0.5149 0.4957 0.4168 0.317 0.53 0.51 0.51 0.43 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419249 NA NA NA NA ID=COSN168336;OCCURENCE=1(large_intestine) 0.457 NA 3.4831 1304 11 3799985 3799985 G A intronic NUP98 NA NA NA intronic ENSG00000110713 NA NA NA NA NA 11p15.4 NA NA NA NA rs188044 0.53 0.53 0.556 0.533746 0.5169 0.4187 0.3213 0.7723 0.498 0.51 0.4 0.4 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026745 NA NA NA NA NA 0.674 NA 3.4831 1304 16 57946973 57946973 A G intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs434961 0.63 0.63 0.656 0.644369 0.5169 0.6419 0.536 0.8578 0.5665 0.53 0.62 0.52 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68715 NA NA NA NA NA 0.514 NA 3.4831 1304 20 30452709 30452709 A G intronic DUSP15 NA NA NA intronic ENSG00000149599 NA NA NA NA NA 20q11.21 NA NA NA NA rs41310803 0.12 0.12 0.116 0.0938498 0.2097 NA 0.1095 0.1248 0.0184 0.2 NA 0.1 0.14 0.1349 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998418 NA NA 0.172442 0.138901 NA 0.116 NA 3.482958 1304 6 24433483 24433483 T C intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs9461006 0.19 0.19 0.178 0.166733 0.1968 0.1468 0.1124 0.208 0.1391 0.2 0.16 0.12 0.24 0.1644 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249397 NA NA 0.15593 0.201997 ID=COSN167705;OCCURENCE=1(urinary_tract),1(large_intestine) 0.145 NA 3.48287 1304 3 86010600 86010600 G A intronic CADM2 NA NA NA intronic ENSG00000175161 NA NA NA NA NA 3p12.1 NA NA NA NA rs9819556 0.14 0.14 0.134 0.170327 0.17 0.1399 0.1571 0.1399 0.2526 0.15 0.14 0.15 0.13 0.181 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084231 NA NA 0.166279 0.143441 NA 0.188 NA 3.482721 1304 9 18753529 18753529 A G intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA NA NA NA rs56778727 0.21 0.21 0.211 0.217452 0.1461 0.2827 0.2248 0.2231 0.2106 0.15 0.29 0.22 0.21 0.2207 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11331 NA NA 0.150868 0.206861 NA 0.275 NA 3.482332 1304 11 66052832 66052832 C G intronic YIF1A NA NA NA intronic ENSG00000174851 NA NA NA NA NA 11q13.2 NA NA NA NA rs2282568 0.2 0.2 0.165 0.196685 0.174 0.2907 0.134 0.1846 0.184 0.18 0.28 0.14 0.16 0.1778 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081273 NA NA 0.166007 0.160682 NA 0.217 NA 3.482193 1304 19 9009161 9009161 A T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs12976386 0.59 0.59 0.592 0.601637 0.5179 0.5575 0.634 0.6959 0.5828 0.53 0.54 0.6 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258998 NA NA NA NA NA 0.58 NA 3.4821 1304 20 31647935 31647935 G T intronic BPIFB3 NA NA NA intronic ENSG00000186190 NA NA NA NA NA 20q11.21 NA NA NA NA rs2424936 0.62 0.62 0.605 0.618211 0.5179 0.8036 0.5634 0.6127 0.5767 0.53 0.8 0.55 0.62 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837146 NA NA NA NA NA 0.601 NA 3.4821 1304 10 85971347 85971347 G A intronic CDHR1 NA NA NA intronic ENSG00000148600 NA NA NA NA NA 10q23.1 NA NA NA NA rs4933978 0.25 0.25 0.243 0.264577 0.2515 0.0655 0.2378 0.444 0.2597 0.27 0.07 0.23 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.495081 2.495081 NA 0.266499 0.403902 NA 0.29 NA 3.482001 1304 1 8404093 8404093 C T UTR3 SLC45A1 NM_001080397:c.*20C>T NA NA UTR3 ENSG00000162426 ENST00000471889:c.*20C>T,ENST00000377479:c.*20C>T,ENST00000289877:c.*20C>T NA NA NA NA 1p36.23 NA NA NA NA rs1055236 0.2 0.2 0.192 0.187101 0.3062 0.126 0.1902 0.1051 0.2362 0.32 0.11 0.19 0.13 0.2577 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923926 NA NA 0.287858 0.125511 NA 0.261 NA 3.4815754 1304 16 15843965 15843965 G A intronic MYH11 NA NA NA intronic ENSG00000133392 NA NA NA NA NA 16p13.11 NA NA NA NA rs79295535 0.09 0.09 0.086 0.0686901 0.1839 NA 0.1052 0.0098 0.0746 0.19 NA 0.13 0.02 0.1436 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658744 NA NA 0.191047 0.034593 NA 0.043 NA 3.481453 1304 1 21926187 21926187 C T intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA NA NA NA rs1767445 0.55 0.55 0.546 0.540735 0.5189 0.7044 0.5648 0.4062 0.5593 0.53 0.72 0.55 0.4 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912885 NA NA NA NA NA 0.42 NA 3.4811 1304 7 97361784 97361784 C T intronic TAC1 NA NA NA intronic ENSG00000006128 NA NA NA NA NA 7q21.3 NA NA NA NA rs2072100 0.5 0.5 0.5 0.509585 0.5189 0.3542 0.4179 0.6936 0.4765 0.53 0.36 0.4 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618427 NA NA NA NA NA 0.384 NA 3.4811 1304 8 123846553 123846553 G C intronic ZHX2 NA NA NA intronic ENSG00000178764 NA NA NA NA NA 8q24.13 NA NA NA NA rs4870818 0.47 0.47 0.415 0.434505 0.5189 0.5556 0.634 0.1293 0.4939 0.53 0.59 0.56 0.15 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563013 NA NA NA NA NA 0.435 NA 3.4811 1304 14 55907025 55907025 T A intronic TBPL2 NA NA NA intronic ENSG00000182521 NA NA NA NA NA 14q22.3 NA NA NA NA rs8020152 0.57 0.57 0.544 0.569688 0.5189 0.631 0.6398 0.528 0.5654 0.52 0.64 0.65 0.52 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114561 NA NA NA NA NA 0.536 NA 3.4811 1304 15 41827655 41827655 C T intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2297381 0.41 0.41 0.387 0.388379 0.5189 0.4444 0.3862 0.1445 0.5276 0.52 0.48 0.39 0.15 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425559 NA NA NA NA NA 0.464 NA 3.4811 1304 20 3017674 3017674 T G intronic PTPRA NA NA NA intronic ENSG00000132670 NA NA NA NA NA 20p13 NA NA NA NA rs561843 0.71 0.71 0.675 0.703674 0.5189 0.8958 0.7248 0.6929 0.6953 0.53 0.92 0.72 0.72 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601511 NA NA NA NA NA 0.652 NA 3.4811 1304 9 15199813 15199813 C T intronic TTC39B NA NA NA intronic ENSG00000155158 NA NA NA NA NA 9p22.3 NA NA NA NA rs41265314 0.13 0.13 0.129 0.135383 0.1759 0.0278 0.1239 0.2368 0.0757 0.17 0.02 0.11 0.22 0.154 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018413 NA NA 0.189306 0.207556 NA 0.174 NA 3.480794 1304 3 191098731 191098731 G A intronic CCDC50 NA NA NA intronic ENSG00000152492 NA NA NA NA NA 3q28 NA NA NA NA rs211043 0.63 0.63 0.644 0.644569 0.495 0.6865 0.5764 0.854 0.5204 0.5 0.65 0.57 0.84 0.5636 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371391 1.371391 NA 0.460796 0.789868 NA 0.522 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041440.1;CLNDSDB=.;CLNDSDBID=. 3.480604 1304 9 4561596 4561596 G A intronic SLC1A1 NA NA NA intronic ENSG00000106686,ENSG00000106688 NA NA NA NA NA 9p24.2 NA NA NA NA rs10974625 0.31 0.31 0.273 0.271166 0.2803 0.4663 0.2997 0.1604 0.1902 0.28 0.47 0.33 0.16 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.148588 2.148588 NA 0.239158 0.174133 NA 0.225 NA 3.480542 1304 19 7675877 7675877 T C intronic CAMSAP3 NA NA NA intronic ENSG00000076826 NA NA NA NA NA 19p13.2 NA NA NA NA rs1674034 0.23 0.23 0.176 0.209265 0.2753 0.122 0.3415 0.2027 0.1462 0.27 0.13 0.31 0.2 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628059 NA NA 0.244186 0.200145 NA 0.167 NA 3.480514 1304 17 6593922 6593922 T C intronic SLC13A5 NA NA NA intronic ENSG00000141485 NA NA NA NA NA 17p13.1 NA NA NA NA rs218696 0.7 0.7 0.705 0.710663 0.5199 0.8165 0.6729 0.9024 0.5654 0.51 0.83 0.66 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21858 NA NA NA NA NA 0.63 NA 3.4801 1304 19 57687355 57687355 G A intergenic DUXA,ZNF264 dist=8499;dist=15513 NA NA ncRNA_exonic ENSG00000268379 NA NA NA NA NA 19q13.43 NA NA NA NA rs736994 0.51 0.51 0.505 0.539137 0.5199 0.2788 0.5029 0.826 0.4652 0.51 0.26 0.5 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452046 NA NA NA NA NA 0.739 NA 3.4801 1304 1 27682126 27682126 T C intronic MAP3K6 NA NA NA intronic ENSG00000142733 NA NA NA NA NA 1p36.11 NA NA NA NA rs12742921 0.11 0.11 0.088 0.0864617 0.1918 0.0427 0.1167 0.0076 0.1084 0.2 0.05 0.13 0.01 0.1416 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08116 NA NA 0.186628 0.04335 ID=COSN163016;OCCURENCE=1(breast) 0.051 NA 3.479972 1304 22 23967147 23967147 C T intronic C22orf43 NA NA NA intronic ENSG00000189269 NA NA NA NA NA 22q11.23 NA NA NA NA rs2877164 0.34 0.34 0.353 0.361222 0.2555 0.3323 0.2651 0.6082 0.2342 0.25 0.32 0.25 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029976 NA NA 0.264613 0.568642 NA 0.464 NA 3.479887 1304 1 153004778 153004778 C T intronic SPRR1B NA NA NA intronic ENSG00000169469 NA NA NA NA NA 1q21.3 NA Name=PAX5-N19 NA NA rs3820141 0.52 0.52 0.477 0.49401 0.5099 0.5913 0.4251 0.4402 0.499 0.51 0.62 0.46 0.46 0.5045 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416454 NA NA 0.50593 0.462097 NA 0.457 NA 3.47967 1304 6 155635585 155635585 A C UTR5 TFB1M NM_016020:c.-23T>G NA NA UTR5 ENSG00000029639 ENST00000367166:c.-23T>G NA NA NA NA 6q25.3 NA Name=TBP,CHD2_(N-1250),c-Myc,HEY1,NFKB,PAX5-C20,Oct-2,Pol2,PU.1,RFX5_(N-494),SP1,YY1,YY1_(C-20),Sin3Ak-20,TAF7_(SQ-8),ZNF263,c-Fos,Pol2-4H8,TAF1,Pol2(b),NF-YA,POU2F2,GABP NA NA rs162981 0.71 0.71 0.675 0.731629 0.6044 0.8264 0.7493 0.7141 0.7761 0.6 0.84 0.71 0.71 0.6544 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203582 NA NA 0.595 0.689514 NA 0.681 NA 3.4795334 1304 6 29230577 29230577 C A intergenic OR2J2,OR14J1 dist=88226;dist=43890 NA NA ncRNA_exonic ENSG00000204697 NA NA NA NA NA 6p22.1 NA Name=CEBPB NA NA rs3117328 0.4 0.4 0.362 0.360623 0.5328 0.3452 0.438 0.1747 0.3957 0.56 0.33 0.46 0.17 0.4777 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.186435 NA NA 0.51011 0.255591 NA 0.29 NA 3.47939 1304 16 16232433 16232433 G A intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs212088 0.17 0.17 0.163 0.141773 0.164 0.2192 0.1441 0.1112 0.0787 0.16 0.23 0.16 0.11 0.1893 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370477 NA NA 0.167334 0.126081 NA 0.174 NA 3.479366 1304 16 8995927 8995927 G A intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 Score=783;Name=V$MYCMAX_03 NA NA NA rs2304466 0.45 0.45 0.422 0.423922 0.5099 0.6339 0.4942 0.1422 0.4499 0.51 0.64 0.43 0.13 0.5004 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.56891 3.56891 NA 0.510465 0.215749 NA 0.377 NA 3.479235 1304 2 101541798 101541798 C T intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 NA Name=Max,GATA-2,Pol2(b) Name=96 NA rs356651 0.9 0.9 0.911 0.912939 0.828 1 0.9121 0.916 0.907 0.83 1 0.9 0.91 0.8695 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.367183 1.367183 NA 0.823372 0.904448 NA 0.906 NA 3.479128 1304 1 144882912 144882912 G T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1698646 0.29 0.29 NA NA NA NA NA NA NA 0.35 0.07 0.28 0.45 0.3115 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217124 NA NA 0.209381 0.319337 NA 0.254 NA 3.479119 1304 3 78676405 78676405 T C intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs7625555 0.59 0.59 0.601 0.596246 0.5209 0.6984 0.5043 0.6641 0.5419 0.52 0.7 0.49 0.65 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125913 NA NA NA NA NA 0.594 NA 3.4791 1304 5 156957741 156957741 C T intronic ADAM19 NA NA NA intronic ENSG00000135074 NA NA NA NA NA 5q33.3 NA NA NA NA rs3822696 0.49 0.49 0.487 0.521166 0.5209 0.1964 0.5101 0.7322 0.5787 0.53 0.22 0.51 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373362 NA NA NA NA NA 0.507 NA 3.4791 1304 8 38826290 38826290 G A intronic PLEKHA2 NA NA NA intronic ENSG00000169499 NA NA NA NA NA 8p11.22 NA NA NA NA rs6996274 0.66 0.66 0.673 0.692692 0.5209 0.7907 0.6124 0.8003 0.68 0.52 0.77 0.57 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386142 NA NA NA NA NA 0.703 NA 3.4791 1304 11 5663575 5663575 T C intronic TRIM34,TRIM6-TRIM34 NA NA NA intronic ENSG00000196565,ENSG00000258588,ENSG00000258659 NA NA NA NA NA 11p15.4 NA NA NA NA rs12792498 0.36 0.36 0.355 0.333666 0.5209 0.1022 0.3732 0.3843 0.2832 0.52 0.12 0.42 0.35 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63096 NA NA NA NA NA 0.254 NA 3.4791 1304 11 72406297 72406297 C A intronic ARAP1 NA NA NA intronic ENSG00000186635 NA NA NA NA NA 11q13.4 NA NA NA NA rs35250343 0.47 0.47 0.456 0.463259 0.5209 0.376 0.4755 0.4584 0.4918 0.51 0.36 0.52 0.48 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.386091 NA NA NA NA NA 0.514 NA 3.4791 1304 22 16953560 16953560 T C intergenic OR11H1,CCT8L2 dist=503756;dist=118088 NA NA ncRNA_intronic ENSG00000227367 NA NA NA NA NA 22q11.1 NA NA NA NA rs3954571 0.5 0.5 0.458 0.545927 0.5209 0.4474 0.4798 0.6271 0.6104 0.52 0.41 0.48 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871583 NA NA NA NA NA 0.007 NA 3.4791 1304 12 115118997 115118997 G A intronic TBX3 NA NA NA intronic ENSG00000135111 NA NA NA NA NA 12q24.21 NA Name=TBP NA NA rs515746 0.47 0.47 0.488 0.444888 0.5189 0.371 0.4135 0.4342 0.4816 0.54 0.4 0.45 0.45 0.4908 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.708288 NA NA 0.511636 0.441781 ID=COSN164378;OCCURENCE=1(breast) 0.442 NA 3.478664 1304 2 201881677 201881677 A G intronic FAM126B NA NA NA intronic ENSG00000155744 NA NA NA NA NA 2q33.1 NA NA NA NA rs13405753 0.19 0.19 0.207 0.193091 0.1928 0.0139 0.1484 0.4516 0.0603 0.2 0.0035 0.15 0.41 0.1605 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017245 NA NA 0.168256 0.371935 NA 0.203 NA 3.478444 1304 10 105817891 105817891 G A intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA NA NA NA rs11191910 0.12 0.12 0.116 0.131789 0.1789 0.12 0.1427 0.0431 0.2076 0.19 0.1 0.13 0.05 0.1625 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073888 NA NA 0.180233 0.056287 NA 0.065 NA 3.478367 1304 19 10104272 10104272 G C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2277963 0.12 0.12 0.108 0.102037 0.17 0.123 0.1196 0.028 0.0982 0.17 0.15 0.13 0.03 0.1556 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.862562 NA NA 0.196163 0.052655 NA 0.08 NA 3.478237 1304 15 58932932 58932932 T C intronic ADAM10 NA NA NA intronic ENSG00000137845 NA NA NA NA NA 15q21.3 NA NA NA NA rs7165402 0.27 0.27 0.263 0.303714 0.16 0.3839 0.2133 0.3525 0.3671 0.17 0.41 0.17 0.34 0.2293 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.88939 1.88939 NA 0.132572 0.327783 ID=COSN164956;OCCURENCE=1(NS) 0.239 NA 3.478128 1304 16 11850003 11850003 A G intronic ZC3H7A NA NA NA intronic ENSG00000122299 NA NA NA NA NA 16p13.13 NA NA NA NA rs7198247 0.72 0.72 0.674 0.757588 0.5219 0.8591 0.6441 0.9191 0.7577 0.52 0.85 0.67 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686479 NA NA NA NA NA 0.717 NA 3.4781 1304 19 45997261 45997261 T A intronic RTN2 NA NA NA intronic ENSG00000125744,ENSG00000213889 NA NA NA NA NA 19q13.32 NA NA NA NA rs10421736 0.52 0.52 0.456 0.509784 0.5219 0.5635 0.4741 0.497 0.4847 0.53 0.52 0.49 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124842 NA NA NA NA NA 0.384 NA 3.4781 1304 1 948921 948921 T C UTR5 ISG15 NM_005101:c.-33T>C NA NA UTR5 ENSG00000187608 ENST00000379389:c.-33T>C NA NA NA NA 1p36.33 NA Name=Sin3Ak-20,TBP,IRF1,GTF2F1_(RAP-74),Pol2-4H8,Pol2,RFX5_(N-494),SP1,Pol2(phosphoS2),EBF1_(C-8),MEF2C_(SC-13268),POU2F2,HMGN3,Oct-2,Pol2(b),TAF1,STAT1,CCNT2,c-Myc,E2F6_(H-50),AP-2gamma,ELF1_(SC-631),STAT2,HEY1,AP-2alpha Name=142 NA rs15842 0.9 0.9 NA 0.903155 0.9573 0.999 0.9308 0.7201 0.9765 0.96 1 0.93 0.67 0.9416 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17582 NA NA 0.956385 0.747956 NA 0.862 NA 3.4780484 1304 2 74901602 74901602 C T intronic SEMA4F NA NA NA intronic ENSG00000135622 NA NA NA NA NA 2p13.1 NA NA NA NA rs363608 0.41 0.41 0.417 0.408347 0.1431 0.8115 0.2723 0.4266 0.3374 0.14 0.81 0.23 0.47 0.2449 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.006075 NA NA 0.134016 0.409669 NA 0.283 NA 3.477984 1304 5 78251347 78251347 A G intronic ARSB NA NA NA intronic ENSG00000113273 NA NA NA NA NA 5q14.1 NA NA NA NA rs6870443 0.1 0.1 0.106 0.11901 0.168 0.0823 0.1282 0.0454 0.1994 0.18 0.05 0.13 0.04 0.1683 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895807 NA NA 0.185814 0.076487 NA 0.087 NA 3.477886 1304 1 228494357 228494357 C T intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs3795795 0.17 0.17 0.14 0.166733 0.159 0.1518 0.2406 0.1974 0.0961 0.16 0.15 0.24 0.17 0.1916 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353871 NA NA 0.171574 0.214286 NA 0.167 NA 3.477826 1304 2 90249092 90249092 A T intergenic MIR4436A,LOC654342 dist=1137124;dist=1575617 NA NA intronic ENSG00000242580 NA NA NA NA NA 2p11.2 NA NA NA NA rs112898704 0.03 0.03 0.03 0.0363419 0.0686 0.0069 0.0476 0.0015 0.0726 0.08 0.01 0.02 0.002 0.0544 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491955 NA NA 0.065844 0.015081 NA 0.014 NA 3.4778227 1304 4 113554385 113554385 A T UTR5 C4orf21 NM_018392:c.-53T>A NA NA UTR5 ENSG00000138658 ENST00000505019:c.-53T>A,ENST00000473015:c.-53T>A,ENST00000309071:c.-53T>A,ENST00000445203:c.-4600T>A,ENST00000514770:c.-53T>A,ENST00000503172:c.-53T>A,ENST00000502805:c.-53T>A NA NA NA NA 4q25 NA NA NA NA rs13104310 0.41 0.41 0.4 0.416733 0.4284 0.4097 0.5086 0.298 0.5072 0.43 0.42 0.5 0.31 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.898795 1.898795 NA 0.427267 0.322254 ID=COSN167296;OCCURENCE=1(large_intestine) 0.522 NA 3.4776664 1304 11 60107290 60107290 A G intronic MS4A6E NA NA NA intronic ENSG00000166926 NA NA NA NA NA 11q12.2 NA NA NA NA rs17533331 0.11 0.11 0.095 0.0924521 0.1938 0.0129 0.121 0.0923 0.0501 0.18 0.01 0.13 0.08 0.1404 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845525 NA NA 0.18814 0.108942 NA 0.196 NA 3.47766 1304 7 100383605 100383605 T A intronic ZAN NA NA NA intronic ENSG00000146839 NA NA NA NA NA 7q22.1 NA NA Name=4 NA rs160602 0.27 0.27 0.265 0.236222 0.5388 0.0327 0.2752 0.1029 0.2873 0.54 0.03 0.3 0.12 0.4649 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193181 NA NA 0.518817 0.172432 NA 0.297 NA 3.477483 1304 19 15904853 15904853 G A upstream OR10H5 NA NA NA UTR5 ENSG00000172519 ENST00000308940:c.-6G>A NA NA NA NA 19p13.12 NA NA NA NA rs11085991 0.14 0.14 0.129 0.147165 0.161 0.122 0.111 0.1233 0.2168 0.17 0.14 0.1 0.13 0.1816 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435056 NA NA 0.180116 0.13005 NA 0.174 NA 3.477284 1304 17 7557834 7557834 C T intronic ATP1B2 NA NA NA intronic ENSG00000129244 NA NA NA NA NA 17p13.1 NA NA NA NA rs1642764 0.46 0.46 0.458 0.419129 0.5229 0.5853 0.4669 0.2352 0.3558 0.52 0.55 0.48 0.25 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875095 NA NA NA NA NA 0.435 NA 3.4771 1304 17 16248083 16248083 T A intronic CENPV NA NA NA intronic ENSG00000108474,ENSG00000166582 NA NA NA NA NA 17p11.2 NA NA NA NA rs9907546 0.37 0.37 0.301 0.327476 0.5229 0.1339 0.5159 0.2345 0.318 0.52 0.14 0.56 0.26 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024208 NA NA NA NA NA 0.167 NA 3.4771 1304 18 3112252 3112252 C A intronic MYOM1 NA NA NA intronic ENSG00000101605 NA NA NA NA NA 18p11.31 NA NA NA NA rs55779127 0.1 0.1 0.091 0.0810703 0.2018 NA 0.1052 0.0204 0.1053 0.21 NA 0.12 0.03 0.1406 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296335 NA NA 0.180525 0.042648 NA 0.065 NA 3.477075 1304 22 50499964 50499964 T C UTR3 MLC1 NM_139202:c.*48A>G,NM_015166:c.*48A>G NA NA UTR3 ENSG00000100427 ENST00000311597:c.*48A>G,ENST00000395876:c.*48A>G,ENST00000538737:c.*48A>G,ENST00000431262:c.*48A>G,ENST00000535444:c.*48A>G,ENST00000450140:c.*48A>G NA NA NA NA 22q13.33 NA NA NA NA rs137919 0.26 0.26 0.222 0.282947 0.2694 0.3373 0.3775 0.0719 0.4591 0.26 0.33 0.37 0.1 0.2974 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217281 NA NA 0.289486 0.111666 NA 0.217 NA 3.4770474 1304 1 145696694 145696694 G A intronic CD160,NBPF10 NA NA NA UTR3 ENSG00000117281 ENST00000369290:c.*2092C>T NA NA NA NA 1q21.1 NA NA NA NA rs2231375 0.23 0.23 0.197 0.205072 0.3489 0.1558 0.33 0.0635 0.2106 0.35 0.13 0.35 0.07 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293597 NA NA 0.340981 0.121387 NA 0.203 NA 3.4767857 1304 6 41217415 41217415 C T downstream TREML5P NA NA NA downstream ENSG00000225690 NA NA NA NA NA 6p21.1 NA NA NA NA rs28588452 0.21 0.21 0.187 0.205072 0.1899 0.4028 0.1902 0.0371 0.2546 0.2 0.42 0.15 0.04 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201985 NA NA NA NA NA 0.152 NA 3.4767666 1304 12 131603031 131603031 G A intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs7295131 0.14 0.14 0.138 0.102236 0.1928 0.006 0.1225 0.1415 0.0409 0.2 0.01 0.17 0.18 0.1413 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286913 NA NA 0.189302 0.159555 NA 0.13 NA 3.476598 1304 5 179554602 179554602 C T intronic RASGEF1C NA NA NA intronic ENSG00000146090 NA NA NA NA NA 5q35.3 NA NA NA NA rs57288534 0.11 0.11 0.097 0.120208 0.1819 0.0645 0.1153 0.0318 0.2372 0.18 0.06 0.13 0.04 0.1675 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893414 NA NA 0.17407 0.051067 NA 0.196 NA 3.47653 1304 2 33614187 33614187 C T intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs642472 0.5 0.5 0.493 0.502596 0.5239 0.6825 0.6686 0.2171 0.5634 0.52 0.64 0.63 0.22 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755229 NA NA NA NA NA 0.442 NA 3.4761 1304 3 49744392 49744392 A G intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA rs3749241 0.61 0.61 0.551 0.597244 0.5239 0.8333 0.6484 0.4138 0.6411 0.53 0.83 0.66 0.45 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468046 NA NA NA NA NA 0.638 NA 3.4761 1304 7 141762625 141762625 A G intronic MGAM NA NA NA intronic ENSG00000257335 NA NA NA NA NA 7q34 NA NA NA NA rs62477625 0.4 0.4 0.358 0.367412 0.5239 0.494 0.3545 0.0817 0.4714 0.52 0.48 0.44 0.09 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119745 NA NA NA NA NA 0.406 NA 3.4761 1304 10 106916819 106916819 G A intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs2297500 0.38 0.38 0.356 0.368211 0.5239 0.1796 0.5836 0.2526 0.4059 0.52 0.16 0.59 0.29 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471638 NA NA NA NA NA 0.29 NA 3.4761 1304 22 24179724 24179724 G C intronic DERL3 NA NA NA intronic ENSG00000099958 NA NA NA NA NA 22q11.23 NA NA NA NA rs2070462 0.37 0.37 0.299 0.32528 0.5239 0.3204 0.5461 0.031 0.3671 0.51 0.35 0.52 0.05 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308438 NA NA NA NA NA 0.29 NA 3.4761 1304 16 84476224 84476224 G T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs2288581 0.28 0.28 0.266 0.282748 0.166 0.5278 0.3487 0.1649 0.2628 0.16 0.53 0.29 0.15 0.2114 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131464 NA NA 0.146573 0.178685 NA 0.217 NA 3.476027 1304 20 16712280 16712280 C T intronic SNRPB2 NA NA NA intronic ENSG00000125870 NA NA NA NA NA 20p12.1 NA NA NA NA rs6111262 0.19 0.19 0.178 0.170128 0.2545 0.2123 0.2017 0.0318 0.2045 0.26 0.21 0.2 0.04 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353808 NA NA 0.269524 0.066474 NA 0.094 NA 3.475976 1304 1 145367863 145367863 A T intronic NBPF10,NBPF9 NA NA NA intronic ENSG00000163386 NA NA NA NA NA 1q21.1 NA NA NA NA rs78014802 NA NA 0.753 NA NA NA NA NA NA NA NA NA NA 0.5242 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43202 NA NA NA NA NA 0.246 NA 3.4758 1304 1 95614215 95614215 G A intronic TMEM56,TMEM56-RWDD3 NA NA NA intronic ENSG00000152078,ENSG00000271092 NA NA NA NA NA 1p21.3 NA NA NA NA rs76921353 0.14 0.14 0.137 0.128395 0.1819 0.0694 0.1556 0.1142 0.1339 0.19 0.08 0.17 0.12 0.1604 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.707069 1.707069 NA 0.181903 0.116485 NA 0.109 NA 3.475797 1304 7 128141083 128141083 A G intronic METTL2B NA NA NA intronic ENSG00000165055 NA NA NA NA NA 7q32.1 NA NA NA NA rs10271878 0.27 0.27 0.234 0.277955 0.2495 0.251 0.2493 0.3207 0.2975 0.24 0.24 0.28 0.33 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106088 NA NA 0.274843 0.315751 NA 0.261 NA 3.475657 1304 17 61996199 61996199 T A upstream GH1 NA NA NA upstream ENSG00000204414,ENSG00000259384 NA NA NA NA NA 17q23.3 NA NA NA NA rs695 0.07 0.07 0.039 0.0786741 0.0905 0.0347 0.0504 0.1528 0.0317 0.08 0.02 0.05 0.12 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487519 NA NA 0.100566 0.145954 NA 0.072 NA 3.4756006 1304 9 136213521 136213521 T C UTR5 MED22 NM_181491:c.-4A>G,NM_133640:c.-4A>G NA NA UTR5 ENSG00000148297 ENST00000491289:c.-4A>G,ENST00000344469:c.-4A>G,ENST00000343730:c.-4A>G,ENST00000486395:c.-4A>G,ENST00000476080:c.-4A>G,ENST00000371999:c.-4A>G,ENST00000446777:c.-4A>G,ENST00000494177:c.-4A>G,ENST00000457204:c.-4A>G NA NA NA NA 9q34.2 Score=755;Name=V$TCF11MAFG_01 NA NA NA rs616836 0.69 0.69 0.698 0.686502 0.6064 0.7024 0.6297 0.8767 0.5358 0.58 0.73 0.64 0.85 0.6295 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183264 NA NA 0.621977 0.83182 NA 0.674 NA 3.4754564 1304 1 205549122 205549122 T A intronic MFSD4 NA NA NA intronic ENSG00000174514 NA NA NA NA NA 1q32.1 NA NA NA NA rs77822322 0.14 0.14 0.121 0.156949 0.1551 0.0575 0.2363 0.1581 0.2035 0.16 0.05 0.22 0.15 0.1892 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68888 NA NA 0.180252 0.14925 NA 0.174 NA 3.475448 1304 1 205739396 205739396 T G UTR3 RAB7L1 NM_001135663:c.*74A>C,NM_001135662:c.*74A>C,NM_001135664:c.*74A>C,NM_003929:c.*74A>C NA NA UTR3 ENSG00000117280 ENST00000367139:c.*74A>C,ENST00000235932:c.*74A>C,ENST00000528078:c.*303A>C,ENST00000437324:c.*74A>C,ENST00000446390:c.*74A>C NA NA NA NA 1q32.1 NA NA NA NA rs823139 0.75 0.75 0.735 0.721046 0.8579 0.8462 0.7767 0.441 0.7904 0.87 0.85 0.81 0.42 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919306 NA NA NA NA NA 0.819 NA 3.4754334 1304 17 80617552 80617552 G A intronic RAB40B NA NA NA intronic ENSG00000141542 NA NA NA NA NA 17q25.3 NA NA NA NA rs2279395 0.15 0.15 0.134 0.122204 0.171 0.1796 0.0807 0.0946 0.0798 0.18 0.2 0.09 0.08 0.1679 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010704 NA NA 0.185698 0.107127 ID=COSN165553;OCCURENCE=1(breast) 0.196 NA 3.475402 1304 20 46313135 46313135 C T intronic SULF2 NA NA NA ncRNA_exonic ENSG00000255438 NA NA NA NA NA 20q13.12 NA NA NA NA rs2297586 0.26 0.26 0.254 0.249201 0.2813 0.2232 0.3285 0.211 0.2382 0.27 0.24 0.33 0.21 0.2792 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180202 NA NA 0.297442 0.22911 NA 0.333 NA 3.4753913 1304 9 90432159 90432159 G A intergenic CTSL3P,CTSL1P8 dist=30360;dist=27501 NA NA ncRNA_exonic ENSG00000232743 NA NA NA NA NA 9q22.1 NA NA NA NA rs11141977 0.39 0.39 0.378 0.355032 0.5249 0.2609 0.3977 0.3343 0.2751 0.51 0.24 0.43 0.34 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910012 NA NA NA NA NA 0.261 NA 3.4751 1304 8 23069574 23069574 T C intronic TNFRSF10A NA NA NA intronic ENSG00000104689 NA NA NA NA NA 8p21.3 NA NA NA NA rs13274366 0.28 0.28 0.25 0.245607 0.5249 0.0208 0.3458 0.1112 0.3006 0.52 0.02 0.4 0.13 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62564 NA NA NA NA NA 0.348 NA 3.4751 1304 15 62210274 62210274 G T intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs11071639 0.52 0.52 0.483 0.506589 0.5249 0.4722 0.6556 0.4758 0.4591 0.52 0.49 0.63 0.46 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662439 NA NA NA NA NA 0.413 NA 3.4751 1305 21 38467616 38467616 C A intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA Score=259;Name=lod=15 NA 21q22.13 NA NA NA NA rs2006941 0.42 0.42 0.421 0.40595 0.5258 0.379 0.3818 0.3608 0.3885 0.53 0.36 0.4 0.36 0.4695 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.010508 3.010508 NA 0.529774 0.372785 NA 0.333 NA 3.474926 1305 6 44269193 44269193 C T exonic AARS2 NA synonymous SNV AARS2:NM_020745:exon20:c.G2607A:p.K869K exonic ENSG00000124608 NA synonymous SNV ENSG00000124608:ENST00000244571:exon20:c.G2607A:p.K869K NA NA 6p21.1 NA NA NA NA rs498512 0.61 0.61 0.564 0.582668 0.7266 0.4256 0.7666 0.4622 0.6288 0.73 0.44 0.79 0.48 0.7015 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725163 NA NA 0.76407 0.512937 NA 0.616 NA 3.4744966 1305 12 4716572 4716572 C A intronic DYRK4 NA NA NA intronic ENSG00000010219,ENSG00000139180 NA NA NA NA NA 12p13.32 NA NA NA NA rs997373 0.29 0.29 0.294 0.32528 0.1362 0.4286 0.1787 0.3956 0.4223 0.13 0.46 0.19 0.39 0.2288 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203475 NA NA 0.160581 0.389242 NA 0.232 NA 3.474419 1305 1 201197331 201197331 G A intronic IGFN1 NA NA NA intronic ENSG00000163395 NA NA NA NA NA 1q32.1 NA NA NA NA rs3753971 0.67 0.67 0.691 0.709265 0.5258 0.6657 0.598 0.9274 0.727 0.52 0.71 0.56 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696971 NA NA NA NA NA 0.739 NA 3.4742 1305 3 9948241 9948241 G A intronic IL17RE NA NA NA intronic ENSG00000163701 NA NA NA NA NA 3p25.3 NA NA NA NA rs279580 0.38 0.38 0.397 0.380791 0.5258 0.0873 0.4611 0.4818 0.3405 0.52 0.06 0.46 0.48 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09824 NA NA NA NA NA 0.297 NA 3.4742 1305 4 38990334 38990334 C T intronic TMEM156 NA NA NA intronic ENSG00000121895 NA NA NA NA NA 4p14 NA NA NA NA rs3821986 0.48 0.48 0.476 0.458267 0.5258 0.626 0.4971 0.2057 0.5297 0.52 0.65 0.47 0.22 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.029398 NA NA NA NA NA 0.507 NA 3.4742 1305 9 90432078 90432078 G A intergenic CTSL3P,CTSL1P8 dist=30279;dist=27582 NA NA ncRNA_exonic ENSG00000232743 NA NA NA NA NA 9q22.1 NA NA NA NA rs10868655 0.35 0.35 0.345 0.30651 0.5258 0.2599 0.379 0.1604 0.2751 0.52 0.24 0.41 0.17 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.435579 NA NA NA NA NA 0.203 NA 3.4742 1305 9 90432515 90432515 A G intergenic CTSL3P,CTSL1P8 dist=30716;dist=27145 NA NA ncRNA_exonic ENSG00000232743 NA NA NA NA NA 9q22.1 NA NA NA NA rs7867409 0.4 0.4 0.392 0.355831 0.5258 0.2619 0.3977 0.3359 0.2751 0.52 0.24 0.43 0.36 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373439 NA NA NA NA NA 0.254 NA 3.4742 1305 16 12437556 12437556 G C intronic SNX29 NA NA NA intronic ENSG00000048471 NA NA NA NA NA 16p13.13 NA NA NA NA rs8051010 0.34 0.34 0.308 0.284944 0.5258 0.2768 0.2939 0.1422 0.2321 0.51 0.29 0.31 0.16 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029297 NA NA NA NA NA 0.37 NA 3.4742 1305 21 38469069 38469069 G C intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835602 0.42 0.42 0.443 0.40595 0.5258 0.379 0.3818 0.3608 0.3885 0.53 0.36 0.4 0.36 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712782 NA NA NA NA NA 0.333 NA 3.4742 1305 3 53758049 53758049 G A intronic CACNA1D NA NA NA intronic ENSG00000157388 NA NA NA NA NA 3p21.1 NA NA NA NA rs2070617 0.26 0.26 0.252 0.282548 0.17 0.4782 0.2435 0.1271 0.4346 0.16 0.51 0.22 0.13 0.2125 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.220709 NA NA 0.143372 0.119383 NA 0.225 NA 3.474128 1305 11 6530106 6530106 A G intronic DNHD1 NA NA NA intronic ENSG00000179532,ENSG00000265264 NA NA NA NA NA 11p15.4 NA NA NA NA rs11605607 0.11 0.11 0.108 0.110623 0.1799 0.0169 0.1556 0.0764 0.1503 0.19 0.02 0.14 0.08 0.1543 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.76347 1.76347 NA 0.192039 0.09632 NA 0.217 NA 3.473761 1305 2 79878664 79878664 A G intronic CTNNA2 NA NA NA intronic ENSG00000066032 NA NA NA NA NA 2p12 NA NA NA NA rs3739139 0.28 0.28 0.3 0.309704 0.1352 0.2976 0.2378 0.4773 0.3262 0.14 0.29 0.23 0.52 0.226 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236394 NA NA 0.165449 0.457886 NA 0.268 NA 3.473351 1305 9 90432732 90432732 A G intergenic CTSL3P,CTSL1P8 dist=30933;dist=26928 NA NA ncRNA_exonic ENSG00000232743 NA NA NA NA NA 9q22.1 NA NA NA NA rs7870635 0.42 0.42 0.41 0.38119 0.5268 0.2639 0.4092 0.407 0.2975 0.52 0.24 0.45 0.45 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426844 NA NA NA NA NA 0.319 NA 3.4732 1305 8 126445505 126445505 G C intronic TRIB1 NA NA NA intronic ENSG00000173334 NA NA NA NA NA 8q24.13 NA NA NA NA rs13277396 0.38 0.38 0.34 0.333466 0.5268 0.1657 0.4409 0.3306 0.2352 0.53 0.18 0.43 0.35 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.270871 3.270871 NA NA NA NA 0.471 NA 3.4732 1305 9 37305481 37305481 C G intronic ZCCHC7 NA NA NA intronic ENSG00000147905 NA NA NA NA NA 9p13.2 NA NA NA NA rs3780334 0.49 0.49 0.482 0.499601 0.5268 0.3274 0.4611 0.6513 0.4714 0.55 0.32 0.49 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152752 NA NA NA NA NA 0.514 NA 3.4732 1305 16 56436824 56436824 A G intronic AMFR NA NA NA intronic ENSG00000159461 NA NA NA NA NA 16q12.2 NA NA NA NA rs2440472 0.58 0.58 0.621 0.615615 0.5268 0.4454 0.5216 0.8525 0.6288 0.53 0.47 0.52 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222422 NA NA NA NA NA 0.71 NA 3.4732 1305 17 16049626 16049626 A T intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p11.2 NA NA NA NA rs11078333 0.3 0.3 0.243 0.324281 0.5268 0.129 0.4438 0.2579 0.3221 0.46 0.1 0.4 0.23 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41991 NA NA NA NA NA 0.094 NA 3.4732 1305 18 50912352 50912352 T C intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs3764496 0.34 0.34 0.308 0.303115 0.5268 0.2212 0.2925 0.1755 0.3374 0.52 0.22 0.35 0.19 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356929 NA NA NA NA NA 0.391 NA 3.4732 1305 8 142437934 142437934 C T intronic PTP4A3 NA NA NA intronic ENSG00000184489 NA NA NA NA NA 8q24.3 NA NA NA NA rs7465654 0.18 0.18 0.188 0.165735 0.1879 0.1508 0.1081 0.1959 0.1585 0.2 0.17 0.11 0.22 0.1808 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125679 NA NA 0.15856 0.1642 NA 0.232 NA 3.47274 1305 19 3910933 3910933 G A intronic ATCAY NA NA NA intronic ENSG00000167654 NA NA NA NA NA 19p13.3 NA Name=SUZ12 NA NA rs4807527 0.65 0.65 0.609 0.698882 0.4523 0.9415 0.6744 0.6505 0.7853 0.44 0.94 0.65 0.64 0.5912 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734623 NA NA 0.483856 0.606636 NA 0.725 NA 3.472644 1305 14 100592959 100592959 G A intronic EVL NA NA NA intronic ENSG00000196405 NA NA NA NA NA 14q32.2 NA NA NA NA rs726514 0.38 0.38 0.375 0.377396 0.5278 0.2222 0.5086 0.2186 0.5041 0.54 0.24 0.52 0.21 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243022 NA NA NA NA NA 0.362 NA 3.4722 1305 17 16221319 16221319 T C intronic PIGL NA NA NA intronic ENSG00000108474 NA NA NA NA NA 17p11.2 NA NA NA NA rs9890539 0.46 0.46 0.447 0.448882 0.5278 0.1994 0.5274 0.6301 0.3241 0.53 0.19 0.57 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82297 NA NA NA NA NA 0.449 NA 3.4722 1305 3 49322027 49322027 T A intronic USP4 NA NA NA intronic ENSG00000114316 NA NA NA NA NA 3p21.31 NA NA NA NA rs2304442 0.16 0.16 0.178 0.142971 0.1978 0.0476 0.111 0.2564 0.0542 0.2 0.06 0.15 0.24 0.1563 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.937283 1.937283 NA 0.173837 0.240127 ID=COSM149388;OCCURENCE=1(stomach) 0.232 NA 3.472063 1305 3 182681740 182681740 C T exonic DCUN1D1 NA synonymous SNV DCUN1D1:NM_020640:exon3:c.G318A:p.A106A exonic ENSG00000043093 NA synonymous SNV ENSG00000043093:ENST00000292782:exon3:c.G318A:p.A106A,ENSG00000043093:ENST00000469954:exon3:c.G273A:p.A91A,ENSG00000043093:ENST00000497606:exon3:c.G273A:p.A91A,ENSG00000043093:ENST00000460412:exon4:c.G273A:p.A91A,ENSG00000043093:ENST00000487822:exon4:c.G273A:p.A91A NA NA 3q26.33 NA NA NA NA rs4859146 0.59 0.59 0.589 0.613019 0.7425 0.2738 0.7017 0.7322 0.6053 0.72 0.25 0.65 0.74 0.6885 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47355 1.47355 NA 0.763605 0.743305 NA 0.601 NA 3.4720616 1305 14 92609334 92609334 T C intronic CPSF2 NA NA NA intronic ENSG00000165934 NA NA NA NA NA 14q32.12 NA NA NA NA rs35609412 0.23 0.23 0.227 0.24381 0.164 0.3194 0.1052 0.2973 0.274 0.17 0.31 0.1 0.32 0.1998 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369693 1.369693 NA 0.164186 0.249433 NA 0.246 NA 3.472014 1305 6 158502137 158502137 G T intronic SYNJ2 NA NA NA intronic ENSG00000078269 NA NA NA Score=529;Name=lod=188 NA 6q25.3 NA NA NA NA rs2256014 0.55 0.55 0.576 0.548922 0.5089 0.5784 0.3516 0.6634 0.545 0.53 0.54 0.39 0.7 0.5097 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33348 NA NA 0.509419 0.635497 NA 0.572 NA 3.471981 1305 8 29005143 29005143 A G intronic KIF13B NA NA NA intronic ENSG00000197892 NA NA NA NA NA 8p12 NA NA NA NA rs6986829 0.22 0.22 0.203 0.236022 0.1491 0.2341 0.3718 0.2678 0.1881 0.15 0.24 0.33 0.24 0.2201 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667799 NA NA 0.159185 0.230442 ID=COSN168299;OCCURENCE=2(large_intestine),1(endometrium) 0.297 NA 3.471615 1305 16 460504 460504 C T intronic DECR2 NA NA NA intronic ENSG00000242612 NA NA NA NA NA 16p13.3 NA NA NA NA rs3743893 0.41 0.41 0.385 0.396166 0.5288 0.5337 0.3674 0.1415 0.4826 0.53 0.5 0.39 0.13 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333116 NA NA NA NA NA 0.174 NA 3.4712 1305 6 2838102 2838102 G A intronic SERPINB1 NA NA NA intronic ENSG00000021355 NA NA NA NA NA 6p25.2 NA Name=Pol2 NA NA rs316340 0.45 0.45 0.414 0.41853 0.5209 0.5228 0.5778 0.0915 0.5348 0.53 0.57 0.56 0.12 0.4949 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501874 NA NA 0.513256 0.17113 NA 0.275 NA 3.470944 1305 5 108713970 108713970 C T exonic PJA2 NA synonymous SNV PJA2:NM_014819:exon4:c.G1218A:p.E406E exonic ENSG00000198961 NA synonymous SNV ENSG00000198961:ENST00000361557:exon3:c.G1218A:p.E406E,ENSG00000198961:ENST00000361189:exon4:c.G1218A:p.E406E NA NA 5q21.3 NA NA NA NA rs10042721 0.66 0.66 0.684 0.680112 0.7416 0.4355 0.6398 0.8654 0.6472 0.74 0.4 0.67 0.85 0.6984 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.371004 NA NA 0.756047 0.811535 NA 0.754 NA 3.4706196 1305 2 33413640 33413640 G T intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA Score=579;Name=lod=301 NA 2p22.3 NA NA NA NA rs6712473 0.49 0.49 0.463 0.446685 0.503 0.3909 0.4899 0.5159 0.3221 0.5 0.43 0.5 0.55 0.4994 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562509 NA NA 0.527093 0.539492 NA 0.428 NA 3.470507 1305 16 1657284 1657284 C G UTR5 IFT140 NM_014714:c.-17G>C NA NA ncRNA_UTR5 ENSG00000187535 NA NA NA NA NA 16p13.3 NA NA NA NA rs1894649 0.48 0.48 0.491 0.514976 0.3062 0.5942 0.4006 0.7239 0.4468 0.3 0.58 0.39 0.73 0.4004 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195356 NA NA 0.323023 0.664166 NA 0.435 NA 3.470377 1305 9 88618462 88618462 C G intronic NAA35 NA NA NA intronic ENSG00000135040 NA NA NA NA NA 9q21.33 Score=841;Name=V$CDC5_01 NA NA NA rs1328923 0.27 0.27 0.278 0.219649 0.5557 0.0228 0.2824 0.0772 0.2249 0.56 0.02 0.33 0.08 0.4319 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942286 NA NA 0.542056 0.150569 NA 0.246 NA 3.470344 1305 1 110456866 110456866 C A intronic CSF1 NA NA NA intronic ENSG00000184371 NA NA NA NA NA 1p13.3 NA NA NA NA rs2297706 0.31 0.31 0.291 0.324281 0.1382 0.5337 0.2262 0.4463 0.2045 0.14 0.53 0.22 0.39 0.2289 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.711948 3.711948 NA 0.162558 0.397413 NA 0.326 NA 3.470342 1305 1 220641247 220641247 G A intergenic RAB3GAP2,MARK1 dist=195404;dist=60321 NA NA upstream ENSG00000226226 NA NA NA NA NA 1q41 NA NA NA NA rs78202658 0.02 0.02 0.019 0.0271565 0.0298 0.0169 0.0288 NA 0.0706 0.03 0.01 0.03 NA NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968316 NA NA NA NA NA 0.014 NA 3.4702 1305 2 46583235 46583235 C A intronic EPAS1 NA NA NA intronic ENSG00000116016 NA NA NA NA NA 2p21 NA NA NA NA rs6743991 0.72 0.72 0.726 0.737021 0.5298 0.8671 0.7666 0.8381 0.6585 0.53 0.87 0.74 0.84 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467409 NA NA NA NA NA 0.659 NA 3.4702 1305 3 97868174 97868174 T G upstream OR5H14 NA NA NA UTR5 ENSG00000236032 ENST00000437310:c.-56T>G NA NA NA NA 3q11.2 NA NA NA NA rs4857075 0.58 0.58 0.586 0.587859 0.5298 0.5228 0.5648 0.7118 0.5634 0.54 0.58 0.52 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207398 NA NA NA NA NA 0.507 NA 3.4702 1305 8 17920820 17920820 A T intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs7824650 0.31 0.31 NA 0.273962 0.5298 0.2044 0.2853 0.1293 0.2699 0.53 0.2 0.28 0.12 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748931 NA NA NA NA NA 0.341 NA 3.4702 1305 12 124350444 124350444 C T intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs7314963 0.39 0.39 0.378 0.374601 0.5298 0.2312 0.4784 0.2791 0.4182 0.53 0.23 0.5 0.26 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216489 NA NA NA NA NA 0.348 NA 3.4702 1305 15 58904237 58904237 C T intronic ADAM10 NA NA NA intronic ENSG00000137845 NA NA NA NA NA 15q21.3 NA NA NA NA rs8039791 0.32 0.32 0.325 0.355831 0.161 0.38 0.2219 0.553 0.3599 0.17 0.41 0.19 0.55 0.238 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239464 NA NA 0.130825 0.503422 NA 0.29 NA 3.470175 1305 17 4608052 4608052 A G upstream PELP1 NA NA NA ncRNA_intronic ENSG00000244184 NA NA NA NA NA 17p13.2 NA NA NA NA rs7225717 0.69 0.69 0.666 0.695088 0.6968 0.8284 0.7219 0.4841 0.8221 0.72 0.85 0.72 0.45 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494539 NA NA NA NA NA 0.572 NA 3.4698666 1305 17 36499795 36499795 G C upstream GPR179 NA NA NA upstream ENSG00000188888 NA NA NA NA NA 17q12 NA NA NA NA rs61706454 0.23 0.23 0.23 0.233626 0.1968 0.0754 0.1772 0.4667 0.1595 0.18 0.08 0.21 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.250018 NA NA NA NA NA 0.304 NA 3.4698666 1305 21 47536546 47536546 C T intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs762438 0.44 0.44 0.427 0.397564 0.5209 0.4117 0.6398 0.2088 0.3395 0.54 0.4 0.62 0.22 0.4922 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724669 NA NA 0.517209 0.243869 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079902.1;CLNDSDB=.;CLNDSDBID=. 3.469691 1305 4 141548569 141548569 T C intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA NA NA 4q31.21 NA NA NA NA rs3816933 0.23 0.23 0.25 0.255391 0.1511 0.1419 0.1542 0.5272 0.184 0.15 0.11 0.19 0.53 0.2388 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034405 NA NA 0.140476 0.455483 NA 0.297 NA 3.469624 1305 16 15116625 15116625 G T intronic PDXDC1 NA NA NA intronic ENSG00000179889 NA NA NA NA NA 16p13.11 NA NA NA NA rs1058637 0.51 0.51 0.501 NA NA NA NA NA NA 0.53 0.52 0.61 0.39 0.5305 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707791 NA NA NA NA NA 0.471 NA 3.4695 1305 22 20100409 20100409 C T intronic TRMT2A NA NA NA intronic ENSG00000099899 NA NA NA NA NA 22q11.21 NA NA NA NA rs9606254 0.08 0.08 0.072 0.0898562 0.1819 0.004 0.1182 0.0045 0.1789 0.17 0.0035 0.13 0.0041 0.1539 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136406 NA NA 0.194767 0.03291 NA 0.036 NA 3.469433 1305 14 102507065 102507065 G C intronic DYNC1H1 NA NA NA ncRNA_intronic ENSG00000258959 NA NA NA NA NA 14q32.31 NA NA NA NA rs17541540 0.28 0.28 0.255 0.258387 0.4404 0.2619 0.2896 0.0204 0.3671 0.46 0.25 0.27 0.04 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925607 NA NA 0.423633 0.081647 NA 0.312 NA 3.4693003 1305 20 55982579 55982579 T C ncRNA_intronic MIR5095 NA NA NA intronic ENSG00000132819 NA NA NA NA NA 20q13.31 NA NA NA NA rs3764719 0.34 0.34 0.356 0.367412 0.2962 0.0159 0.2176 0.9455 0.1278 0.27 0.02 0.23 0.9 0.2846 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.084167 NA NA 0.283286 0.806519 NA 0.457 NA 3.4692473 1305 19 41712424 41712424 A G UTR3 CYP2S1 NM_030622:c.*31A>G NA NA UTR3 ENSG00000167600 ENST00000310054:c.*31A>G,ENST00000542619:c.*31A>G,ENST00000593545:c.*557A>G,ENST00000593890:c.*240A>G NA NA NA NA 19q13.2 NA NA NA NA rs338583 0.32 0.32 0.317 0.321486 0.3002 0.1964 0.2262 0.5825 0.1871 0.29 0.18 0.31 0.54 0.2839 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105918 NA NA 0.28 0.54108 NA 0.377 NA 3.4692334 1305 1 172717660 172717660 C T intergenic FASLG,TNFSF18 dist=81648;dist=292700 NA NA upstream ENSG00000229785 NA NA NA NA NA 1q24.3 NA NA NA NA rs148702373 0.01 0.01 0.011 0.0091853 0.0308 NA 0.0115 0.003 0.0031 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337809 NA NA NA NA NA 0.029 NA 3.4692 1305 11 49893590 49893590 G A intergenic LOC440040,OR4C13 dist=61621;dist=80353 NA NA ncRNA_exonic ENSG00000255214 NA NA NA NA NA 11p11.12 NA NA NA NA rs11040609 0.46 0.46 0.386 0.433506 0.5308 0.5556 0.5965 0.1596 0.4622 0.54 0.55 0.62 0.13 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.346415 NA NA NA NA NA 0.304 NA 3.4692 1305 5 141387336 141387336 G C intronic GNPDA1 NA NA NA intronic ENSG00000113552 NA NA NA NA NA 5q31.3 NA NA NA NA rs2232196 0.14 0.14 0.145 0.148363 0.1938 0.004 0.1124 0.2458 0.1442 0.17 0.0017 0.12 0.26 0.1545 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054753 NA NA 0.182674 0.238084 NA 0.239 NA 3.469026 1305 9 99797760 99797760 A G intronic CTSL2 NA NA NA intronic ENSG00000136943 NA NA NA NA NA 9q22.33 NA NA NA NA rs7875800 0.35 0.35 0.35 0.370807 0.1561 0.5387 0.1888 0.5371 0.3231 0.17 0.56 0.19 0.49 0.23 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147244 NA NA 0.144884 0.515887 NA 0.268 NA 3.469016 1305 19 54761007 54761007 C G intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs3848615 0.13 0.13 0.098 0.109824 0.1859 0.0258 0.2075 0.0635 0.1115 0.18 0.03 0.22 0.09 0.1525 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13577 NA NA 0.192674 0.093736 NA 0.138 NA 3.468926 1305 6 29911356 29911356 G A intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA NA NA NA rs3132687 0.16 0.16 0.093 0.180112 0.168 0.2798 0.085 0.0825 0.2894 0.18 0.23 0.09 0.08 0.1756 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152054 NA NA 0.1875 0.087434 NA 0.239 NA 3.4689 1305 11 6292837 6292837 C G UTR3 CCKBR NM_176875:c.*64C>G NA NA UTR3 ENSG00000110148 ENST00000334619:c.*64C>G,ENST00000532715:c.*64C>G,ENST00000525462:c.*64C>G NA NA NA NA 11p15.4 NA NA NA NA rs10839535 0.81 0.81 0.093 0.819688 0.8648 0.9504 0.8617 0.6346 0.8589 0.83 0.93 0.86 0.61 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404366 NA NA NA NA NA NA NA 3.4685334 1305 10 121201626 121201626 T C intronic GRK5 NA NA NA intronic ENSG00000198873 NA NA NA NA NA 10q26.11 NA Name=PAX5-N19,PAX5-C20 Name=3 NA rs2275044 0.75 0.75 0.721 0.746206 0.841 0.8462 0.7003 0.5401 0.8569 0.85 0.84 0.72 0.52 0.8264 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265962 NA NA 0.86407 0.611439 NA 0.775 NA 3.46853 1305 1 160137300 160137300 A C intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs4656889 0.58 0.58 0.569 0.577476 0.5318 0.5268 0.6081 0.7042 0.4836 0.54 0.54 0.59 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847549 NA NA NA NA NA 0.601 NA 3.4682 1305 3 183180884 183180884 C G intergenic LOC100505687,KLHL6 dist=7084;dist=24435 NA NA ncRNA_exonic ENSG00000271682 NA NA NA NA NA 3q27.1 NA NA NA NA rs6775445 0.54 0.54 0.496 0.528155 0.5318 0.5863 0.4971 0.5393 0.4714 0.53 0.58 0.55 0.51 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888571 NA NA NA NA NA 0.486 NA 3.4682 1305 3 192590923 192590923 A G intronic MB21D2 NA NA NA intronic ENSG00000180611 NA NA NA NA NA 3q29 NA NA NA NA rs13078909 0.67 0.67 0.682 0.708466 0.5318 0.7708 0.5101 0.8986 0.7096 0.51 0.75 0.56 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.896688 1.896688 NA NA NA NA 0.63 NA 3.4682 1305 5 76703374 76703374 A G intronic PDE8B NA NA NA intronic ENSG00000113231 NA NA NA NA NA 5q13.3 NA NA NA NA rs3101866 0.48 0.48 0.481 0.430911 0.5318 0.4683 0.4164 0.4206 0.3129 0.55 0.45 0.44 0.44 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757266 NA NA NA NA NA 0.449 NA 3.4682 1305 9 130216951 130216951 G T intronic LRSAM1 NA NA NA intronic ENSG00000148356 NA NA NA NA NA 9q33.3 NA NA NA NA rs2244218 0.36 0.36 0.35 0.340855 0.5318 0.1647 0.281 0.3578 0.3456 0.54 0.13 0.32 0.37 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882128 NA NA NA NA NA 0.261 NA 3.4682 1305 12 53294821 53294821 T G intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA NA NA NA rs4351899 0.54 0.54 0.548 0.567692 0.5318 0.6042 0.6167 0.4002 0.7587 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085434 NA NA NA NA NA 0.399 NA 3.4682 1305 17 3638037 3638037 C T intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA NA NA NA rs184335 0.66 0.66 0.651 0.663938 0.5318 0.5694 0.6873 0.9713 0.4652 0.54 0.59 0.62 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079365 NA NA NA NA NA 0.645 NA 3.4682 1305 19 11915185 11915185 G A intronic ZNF491 NA NA NA intronic ENSG00000177599 NA NA NA NA NA 19p13.2 NA NA NA NA rs7254316 0.61 0.61 0.63 0.611821 0.5318 0.4583 0.5576 0.9221 0.4714 0.54 0.48 0.52 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471474 NA NA NA NA NA 0.572 NA 3.4682 1305 20 25469844 25469844 A G intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs2072977 0.2 0.2 0.181 0.167133 0.1789 0.3562 0.1326 0.0575 0.1329 0.18 0.35 0.16 0.07 0.1684 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206525 NA NA 0.184535 0.088062 ID=COSN166505;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.109 NA 3.468165 1305 11 6976988 6976988 A T exonic ZNF215 NA synonymous SNV ZNF215:NM_013250:exon7:c.A780T:p.G260G exonic ENSG00000149054 NA synonymous SNV ENSG00000149054:ENST00000529903:exon5:c.A780T:p.G260G,ENSG00000149054:ENST00000414517:exon6:c.A780T:p.G260G,ENSG00000149054:ENST00000278319:exon7:c.A780T:p.G260G NA NA 11p15.4 NA NA NA NA rs2239731 0.66 0.66 0.637 0.676118 0.7227 0.7133 0.7911 0.4418 0.8252 0.71 0.72 0.79 0.43 0.7343 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020637 NA NA 0.741504 0.494548 NA 0.594 NA 3.4681626 1305 17 42979670 42979670 C A intronic CCDC103 NA NA NA intronic ENSG00000167131,ENSG00000214447 NA NA NA NA NA 17q21.31 NA NA NA NA rs8079610 0.26 0.26 0.253 0.24381 0.2624 0.251 0.2291 0.2307 0.2454 0.27 0.28 0.26 0.21 0.2695 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373678 NA NA NA NA NA 0.167 NA 3.4681 1305 17 79803433 79803433 G A intronic P4HB NA NA NA intronic ENSG00000185624 NA NA NA NA NA 17q25.3 NA NA NA NA rs35649520 0.13 0.13 0.115 0.0978435 0.168 0.0903 0.2277 0.0083 0.0624 0.18 0.1 0.21 0.01 0.1725 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337609 NA NA 0.19144 0.035406 NA 0.13 NA 3.46806 1305 6 29638434 29638434 A G intronic MOG NA NA NA intronic ENSG00000204655 NA NA NA NA NA 6p22.1 NA NA NA NA rs1122947 0.15 0.15 0.137 0.138778 0.1839 0.0456 0.1945 0.1641 0.1145 0.16 0.06 0.21 0.19 0.1682 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520932 NA NA 0.179956 0.159828 NA 0.116 NA 3.467944 1305 21 48078611 48078611 G A intronic PRMT2 NA NA NA intronic ENSG00000160310 NA NA NA NA NA 21q22.3 NA NA NA NA rs2070436 0.18 0.18 0.162 0.178315 0.172 0.3194 0.2435 0.0106 0.2198 0.17 0.31 0.22 0.01 0.1864 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.986742 NA NA 0.173837 0.042215 NA 0.188 NA 3.467763 1305 2 170911950 170911950 T C intronic UBR3 NA NA NA intronic ENSG00000144357 NA NA NA NA NA 2q31.1 NA NA NA NA rs6741614 0.21 0.21 0.196 0.240815 0.164 0.3621 0.1412 0.1604 0.3742 0.16 0.34 0.17 0.15 0.2005 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.205257 2.205257 NA 0.167791 0.163867 NA 0.13 NA 3.467709 1305 6 33561164 33561164 C T upstream LINC00336 NA NA NA upstream ENSG00000197251 NA NA NA NA NA 6p21.31 NA Name=Pol2-4H8,ERalpha_a,Pol2,Nrf1,PAX5-C20 Name=25 NA rs210163 0.81 0.81 0.792 0.842652 0.6809 0.9692 0.8069 0.8321 0.9182 0.68 0.96 0.81 0.82 0.7861 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165932 NA NA 0.732406 0.82575 NA 0.812 NA 3.4672606 1305 1 201356428 201356428 C A intronic LAD1 NA NA NA intronic ENSG00000159166 NA NA NA NA NA 1q32.1 NA NA NA NA rs4915230 0.44 0.44 0.384 0.430312 0.5328 0.4802 0.6095 0.0703 0.6329 0.54 0.51 0.57 0.1 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610999 NA NA NA NA NA 0.362 NA 3.4672 1305 10 135013208 135013208 C G intronic KNDC1 NA NA NA intronic ENSG00000171798 NA NA NA NA NA 10q26.3 NA NA NA NA rs2998138 0.55 0.55 0.532 0.562899 0.5328 0.6161 0.4957 0.5287 0.6329 0.55 0.64 0.51 0.47 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065909 NA NA NA NA NA 0.58 NA 3.4672 1305 12 120586193 120586193 A C intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs2240317 0.35 0.35 0.348 0.344249 0.1551 0.5565 0.1484 0.5159 0.227 0.16 0.57 0.17 0.54 0.2279 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3131 NA NA 0.149822 0.43267 NA 0.225 NA 3.467178 1305 17 39506659 39506659 G A intronic KRT33A NA NA NA intronic ENSG00000006059 NA NA NA NA NA 17q21.2 NA NA NA NA rs16966713 0.17 0.17 0.162 0.159744 0.1849 0.3204 0.1282 0.0257 0.1718 0.18 0.31 0.14 0.03 0.1629 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080832 NA NA 0.185116 0.052202 NA 0.109 NA 3.467084 1305 7 131155588 131155588 G T intronic MKLN1 NA NA NA intronic ENSG00000128585 NA NA NA Score=278;Name=lod=18 NA 7q32.3 NA NA NA NA rs1733861 0.56 0.56 0.564 0.554313 0.4851 0.6776 0.4597 0.6543 0.4305 0.49 0.68 0.4 0.63 0.5236 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.067 2.067 NA 0.524319 0.63779 NA 0.507 NA 3.466981 1305 3 10015437 10015437 T C intronic EMC3 NA NA NA intronic ENSG00000125037 NA NA NA NA NA 3p25.3 NA NA NA NA rs3732967 0.24 0.24 0.235 0.241813 0.1481 0.1319 0.2478 0.3986 0.2352 0.16 0.18 0.26 0.43 0.204 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291482 NA NA 0.18093 0.352928 ID=COSN166810;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.391 NA 3.46697 1305 19 971933 971933 A G exonic ARID3A NA synonymous SNV ARID3A:NM_005224:exon9:c.A1650G:p.G550G exonic ENSG00000116017 NA synonymous SNV ENSG00000116017:ENST00000263620:exon9:c.A1650G:p.G550G NA NA 19p13.3 NA NA NA NA rs1051504 0.63 0.63 0.577 0.594848 0.7674 0.4871 0.549 0.6248 0.5204 0.75 0.48 0.62 0.61 0.659 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841944 NA NA 0.77349 0.642012 NA 0.435 NA 3.4667766 1305 11 18487404 18487404 A G intronic LDHAL6A NA NA NA intronic ENSG00000166800 NA NA NA NA NA 11p15.1 NA NA NA NA rs72870279 0.11 0.11 0.102 0.103834 0.1889 0.0645 0.1729 0.0083 0.137 0.18 0.06 0.18 0.03 0.1563 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.086806 NA NA 0.188213 0.040946 NA 0.087 NA 3.466587 1305 20 25436283 25436283 C G intronic NINL NA NA NA intronic ENSG00000101004 NA NA NA NA NA 20p11.21 NA NA NA NA rs2235607 0.2 0.2 0.189 0.163339 0.1799 0.3522 0.1326 0.0575 0.1166 0.18 0.35 0.16 0.07 0.1682 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123232 NA NA 0.185349 0.088062 ID=COSN166503;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.109 NA 3.466551 1305 6 30229306 30229306 A G ncRNA_intronic HCG17,HLA-L NA NA NA ncRNA_intronic ENSG00000243753,ENSG00000270604 NA NA NA NA NA 6p22.1 NA NA NA NA rs2428507 0.44 0.44 0.385 0.488419 0.3757 0.5794 0.5173 0.4251 0.5757 0.35 0.54 0.5 0.41 0.4336 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.456603 1.456603 NA 0.390919 0.395433 NA 0.529 NA 3.4664476 1305 15 34032225 34032225 G C intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs61219904 0.21 0.21 0.209 0.234026 0.1839 0.1647 0.1787 0.2988 0.3088 0.16 0.18 0.19 0.34 0.1883 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425861 NA NA 0.161357 0.25142 NA 0.29 NA 3.466443 1305 7 888290 888290 A T intronic SUN1 NA NA NA intronic ENSG00000164828 NA NA NA NA NA 7p22.3 NA NA NA NA rs75133066 0.16 0.16 0.137 0.172724 0.1859 0.1369 0.2378 0.0923 0.2587 0.18 0.16 0.24 0.09 0.1863 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.518418 NA NA 0.161477 0.102169 NA 0.13 NA 3.466323 1305 1 1848109 1848109 G C intronic CALML6 NA NA NA intronic ENSG00000169885 NA NA NA NA NA 1p36.33 NA NA NA NA rs2803296 0.55 0.55 0.509 0.585463 0.5338 0.6359 0.6167 0.5159 0.6585 0.54 0.6 0.61 0.48 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353945 NA NA NA NA NA 0.442 NA 3.4662 1305 5 180056192 180056192 T C intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs399108 0.47 0.47 0.455 0.466853 0.5338 0.3155 0.598 0.441 0.4959 0.53 0.31 0.57 0.49 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.290367 NA NA NA NA NA 0.384 NA 3.4662 1305 7 99501313 99501313 A T intronic TRIM4 NA NA NA intronic ENSG00000146833 NA NA NA NA NA 7q22.1 NA NA NA NA rs2572003 0.55 0.55 0.564 0.578674 0.5338 0.2976 0.4597 0.9039 0.5593 0.55 0.28 0.5 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517207 NA NA NA NA NA 0.609 NA 3.4662 1305 9 139405361 139405361 A G intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs3125002 0.72 0.72 0.724 0.721246 0.5338 0.8849 0.5951 0.9395 0.5399 0.53 0.86 0.6 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303655 NA NA NA NA NA 0.63 NA 3.4662 1305 12 108600237 108600237 A G intronic WSCD2 NA NA NA intronic ENSG00000075035 NA NA NA NA NA 12q23.3 NA NA NA NA rs1106752 0.56 0.56 0.55 0.580871 0.5338 0.6042 0.5821 0.6241 0.546 0.55 0.56 0.52 0.58 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069055 NA NA NA NA NA 0.616 NA 3.4662 1305 16 58538662 58538662 C T intronic NDRG4 NA NA NA intronic ENSG00000103034 NA NA NA NA NA 16q21 NA NA NA NA rs9928398 0.75 0.75 0.757 0.76877 0.5338 0.9067 0.7176 0.9032 0.7229 0.55 0.9 0.69 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232507 NA NA NA NA NA 0.623 NA 3.4662 1305 19 7976112 7976112 G A intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs7260355 0.1 0.1 0.081 0.0854633 0.1869 0.001 0.1657 0.0174 0.1033 0.19 0.01 0.18 0.02 0.1627 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.3903 1.3903 NA 0.184398 0.040666 NA 0.116 NA 3.466002 1305 7 101916647 101916647 A G exonic CUX1 NA synonymous SNV CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_181500:exon15:c.A1260G:p.A420A exonic ENSG00000257923 NA synonymous SNV ENSG00000257923:ENST00000393824:exon14:c.A1149G:p.A383A,ENSG00000257923:ENST00000425244:exon14:c.A1128G:p.A376A,ENSG00000257923:ENST00000547394:exon14:c.A1218G:p.A406A,ENSG00000257923:ENST00000292538:exon15:c.A1266G:p.A422A,ENSG00000257923:ENST00000437600:exon15:c.A1260G:p.A420A NA NA 7q22.1 NA NA NA NA rs813000 0.73 0.73 0.75 0.733626 0.7227 0.5188 0.6599 0.9796 0.6861 0.75 0.51 0.72 0.98 0.7296 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962345 NA NA 0.748488 0.928734 NA 0.754 NA 3.4658786 1305 11 1156750 1156750 C A intergenic MUC2,MUC5B dist=52333;dist=87545 NA NA intronic ENSG00000215182 NA NA NA NA NA 11p15.5 NA NA NA NA rs36021067 0.12 0.12 0.116 0.10643 0.2008 0.003 0.0965 0.1543 0.0583 0.2 0.0035 0.12 0.15 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791552 NA NA NA NA NA 0.123 NA 3.4658667 1305 14 20825965 20825965 A C UTR3 PARP2 NM_001042618:c.*9A>C,NM_005484:c.*9A>C NA NA UTR3 ENSG00000129484 ENST00000429687:c.*9A>C,ENST00000250416:c.*9A>C,ENST00000527915:c.*282A>C NA NA NA NA 14q11.2 NA NA NA NA rs2700 0.22 0.22 0.199 0.23722 0.2952 0.2708 0.2291 0.0492 0.4029 0.29 0.25 0.24 0.07 0.2799 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760696 NA NA 0.292584 0.098028 NA 0.196 NA 3.4656494 1305 2 198953816 198953816 G A intronic PLCL1 NA NA NA intronic ENSG00000115896 NA NA NA NA NA 2q33.1 NA NA NA NA rs3213867 0.17 0.17 0.161 0.139377 0.1899 0.2431 0.1628 0.0484 0.0869 0.18 0.24 0.18 0.05 0.1701 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118685 NA NA 0.174535 0.06355 NA 0.058 NA 3.465465 1305 6 80036302 80036302 A C intergenic LOC100288198,LCA5 dist=89785;dist=158406 NA NA ncRNA_exonic ENSG00000217786 NA NA NA NA NA 6q14.1 NA NA NA NA rs4706773 0.69 0.69 0.708 0.731629 0.5348 0.8075 0.5764 0.9531 0.6667 0.52 0.78 0.57 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636998 NA NA NA NA NA 0.601 NA 3.4652 1305 1 32157531 32157531 T C intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297676 0.33 0.33 0.323 0.303914 0.5348 0.124 0.2896 0.3003 0.2669 0.53 0.09 0.36 0.3 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268627 NA NA NA NA NA 0.341 NA 3.4652 1305 8 131812899 131812899 G T intronic ADCY8 NA NA NA intronic ENSG00000155897 NA NA NA NA NA 8q24.22 NA NA NA NA rs263237 0.59 0.59 NA 0.614417 0.5348 0.6022 0.5216 0.733 0.6145 0.55 0.6 0.48 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703295 NA NA NA NA NA 0.601 NA 3.4652 1305 21 42824874 42824874 C T intronic MX1 NA NA NA intronic ENSG00000157601 NA NA NA NA NA 21q22.3 NA NA NA NA rs467798 0.28 0.28 0.256 0.275359 0.5348 0.006 0.3141 0.1967 0.365 0.51 0.0017 0.34 0.19 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667222 NA NA NA NA NA 0.355 NA 3.4652 1306 2 69330118 69330118 A G intronic ANTXR1 NA NA NA intronic ENSG00000169604 NA NA NA NA NA 2p13.3 NA NA NA NA rs6710260 0.35 0.35 0.377 0.361422 0.165 0.2222 0.2637 0.8306 0.1421 0.15 0.27 0.27 0.82 0.2169 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67098 NA NA 0.153256 0.699728 NA 0.326 NA 3.464844 1306 7 100456595 100456595 G A intronic SLC12A9 NA NA NA intronic ENSG00000146828 NA NA NA NA NA 7q22.1 NA NA NA NA rs314373 0.11 0.11 0.093 0.091254 0.1899 0.0327 0.1052 0.0416 0.1074 0.2 0.03 0.12 0.04 0.1584 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51635 NA NA 0.187209 0.056968 NA 0.116 NA 3.464491 1306 1 232538234 232538234 T G intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA NA NA NA rs17177525 0.1 0.1 0.086 0.0984425 0.1889 0.001 0.1311 0.0696 0.1217 0.18 NA 0.14 0.07 0.1538 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.428437 NA NA 0.193068 0.084013 NA 0.116 NA 3.464232 1306 7 44189321 44189321 A G intronic GCK NA NA NA intronic ENSG00000106633 NA NA NA NA NA 7p13 NA Name=RFX5_(N-494) NA NA rs2268574 0.62 0.62 0.607 0.605032 0.5149 0.623 0.6167 0.7799 0.4346 0.5 0.63 0.58 0.79 0.5295 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064033 NA NA 0.491395 0.717885 NA 0.63 NA 3.464205 1306 6 34158331 34158331 T G intergenic GRM4,HMGA1 dist=34932;dist=46246 NA NA ncRNA_exonic ENSG00000271231 NA NA NA NA NA 6p21.31 NA NA NA NA rs1776888 0.66 0.66 0.647 0.657348 0.5358 0.7321 0.683 0.736 0.5808 0.54 0.74 0.68 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257228 NA NA NA NA NA 0.761 NA 3.4642 1306 9 90038463 90038463 C G intergenic C9orf170,DAPK1 dist=263822;dist=74293 NA NA upstream ENSG00000228373 NA NA NA NA NA 9q21.33 NA NA NA NA rs34845209 0.04 0.04 0.039 0.0479233 0.0358 0.0129 0.0317 0.1112 0.0225 0.02 0.02 0.04 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746404 NA NA NA NA NA 0.072 NA 3.4642 1306 12 51864979 51864979 T C intronic SLC4A8 NA NA NA intronic ENSG00000050438 NA NA NA NA NA 12q13.13 NA NA NA NA rs2292217 0.5 0.5 0.502 0.520367 0.5358 0.4643 0.4308 0.5605 0.5716 0.53 0.47 0.49 0.5 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234987 NA NA NA NA NA 0.594 NA 3.4642 1306 12 51869098 51869098 G A intronic SLC4A8 NA NA NA intronic ENSG00000050438 NA NA NA NA NA 12q13.13 NA NA NA NA rs868884 0.5 0.5 0.513 0.517971 0.5358 0.4534 0.4308 0.5598 0.5716 0.53 0.46 0.49 0.5 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581188 NA NA NA NA NA 0.594 NA 3.4642 1306 17 28410124 28410124 T C intronic EFCAB5 NA NA NA intronic ENSG00000176927 NA NA NA NA NA 17q11.2 NA NA NA NA rs12941382 0.44 0.44 0.435 0.448882 0.5358 0.2867 0.4294 0.5325 0.4274 0.53 0.29 0.44 0.5 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.930058 2.930058 NA NA NA NA 0.341 NA 3.4642 1306 11 63176367 63176367 G A ncRNA_intronic MIR3680-1,MIR3680-2 NA NA NA intronic ENSG00000149742 NA NA NA NA NA 11q12.3 NA NA NA NA rs4088469 0.51 0.51 0.496 0.534944 0.2614 0.8413 0.5101 0.5303 0.5245 0.27 0.84 0.45 0.54 0.3717 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.117187 NA NA 0.23604 0.509995 NA 0.391 NA 3.4641933 1306 5 149221788 149221788 G C intronic PPARGC1B NA NA NA intronic ENSG00000155846 NA NA NA NA NA 5q32 NA NA NA NA rs26127 0.3 0.3 0.267 NA NA NA NA NA NA 0.22 0.27 0.32 0.42 0.2984 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.860694 NA NA 0.237558 0.430776 NA 0.29 NA 3.464042 1306 1 111893958 111893958 A G UTR3 PIFO NM_181643:c.*9A>G NA NA UTR3 ENSG00000173947 ENST00000369738:c.*9A>G,ENST00000369737:c.*9A>G NA NA NA NA 1p13.2 NA NA NA NA rs1668 0.26 0.26 0.271 0.294928 0.2863 0.3224 0.17 0.2708 0.3967 0.29 0.29 0.22 0.23 0.2876 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.104924 NA NA 0.295465 0.270994 NA 0.217 NA 3.4639684 1306 3 129044006 129044006 T C downstream H1FX-AS1 NA NA NA ncRNA_exonic ENSG00000206417 NA NA NA NA NA 3q21.3 NA NA NA NA rs10934882 0.54 0.54 0.476 0.489816 0.7028 0.5823 0.5965 0.1172 0.6033 0.71 0.62 0.62 0.13 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457391 NA NA NA NA NA 0.594 NA 3.4638666 1306 20 25252161 25252161 C T intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2281559 0.2 0.2 0.185 0.16274 0.1849 0.3532 0.1326 0.0567 0.1084 0.19 0.35 0.16 0.06 0.1662 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676404 NA NA 0.185116 0.08148 ID=COSN166502;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.094 NA 3.463784 1306 1 173552783 173552783 G A intronic SLC9C2 NA NA NA ncRNA_intronic ENSG00000238272 NA NA NA NA NA 1q25.1 NA NA NA NA rs12032386 0.5 0.5 0.491 0.525958 0.2614 0.6895 0.415 0.7398 0.4192 0.27 0.66 0.39 0.76 0.3569 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559775 NA NA 0.251283 0.649909 NA 0.471 NA 3.4637503 1306 4 8304137 8304137 G A intronic HTRA3 NA NA NA intronic ENSG00000170801 NA NA NA NA NA 4p16.1 NA NA NA NA rs13144236 0.24 0.24 0.252 0.270168 0.2575 0.1687 0.245 0.27 0.4059 0.25 0.18 0.26 0.27 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380488 NA NA 0.278755 0.293353 NA 0.225 NA 3.463745 1306 5 16684109 16684109 T C intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs2303703 0.24 0.24 0.239 0.261781 0.2525 0.2083 0.245 0.2549 0.3476 0.25 0.23 0.28 0.24 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714423 NA NA 0.283784 0.261561 NA 0.29 NA 3.463716 1306 8 125082585 125082585 G A intronic FER1L6 NA NA NA ncRNA_intronic ENSG00000253868 NA NA NA NA NA 8q24.13 NA NA NA NA rs7836974 0.8 0.8 0.815 0.796526 0.8698 0.6627 0.7205 0.8646 0.8211 0.86 0.7 0.75 0.88 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183609 NA NA NA NA NA 0.906 NA 3.4635333 1306 3 10420875 10420875 G A intronic ATP2B2 NA NA NA intronic ENSG00000157087 NA NA NA NA NA 3p25.3 NA NA NA NA rs4684686 0.41 0.41 0.442 0.410343 0.2714 0.6538 0.3329 0.3381 0.455 0.27 0.7 0.31 0.37 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625089 NA NA 0.265075 0.367666 NA 0.348 NA 3.463525 1306 13 31728703 31728703 T C intronic HSPH1 NA NA NA intronic ENSG00000120694 NA NA NA NA NA 13q12.3 NA NA NA NA rs2274019 0.34 0.34 0.319 0.347244 0.2406 0.4752 0.3818 0.27 0.4049 0.24 0.53 0.36 0.25 0.2961 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51075 NA NA NA NA NA 0.261 NA 3.4633 1306 5 37350390 37350390 C A intronic NUP155 NA NA NA intronic ENSG00000113569 NA NA NA NA NA 5p13.2 NA NA NA NA rs217776 0.28 0.28 0.301 0.33766 0.1511 0.123 0.219 0.7912 0.2219 0.15 0.08 0.23 0.74 0.226 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253595 NA NA 0.159651 0.690195 NA 0.312 NA 3.463249 1306 1 200959052 200959052 T G intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs57758014 0.26 0.26 0.262 0.263778 0.1541 0.2976 0.2032 0.4531 0.1288 0.16 0.32 0.17 0.41 0.2043 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.795739 NA NA 0.178372 0.423706 NA 0.232 NA 3.463228 1306 5 167653364 167653364 T C intronic TENM2 NA NA NA intronic ENSG00000145934 NA NA NA NA NA 5q34 NA NA NA NA rs3733985 0.64 0.64 0.649 0.665335 0.5368 0.6438 0.585 0.9206 0.5317 0.51 0.63 0.57 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080645 NA NA NA NA NA 0.703 NA 3.4632 1306 8 1857366 1857366 G A intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA NA NA rs2294036 0.47 0.47 0.509 0.560104 0.5368 0.5288 0.4942 0.6543 0.5358 0.46 0.45 0.46 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232572 NA NA NA NA NA NA NA 3.4632 1306 8 1857367 1857367 T C intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA NA NA rs2294037 0.47 0.47 0.51 0.560104 0.5368 0.5288 0.4942 0.6543 0.5358 0.47 0.46 0.46 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508279 NA NA NA NA NA NA NA 3.4632 1306 11 118983681 118983681 C T intronic C2CD2L NA NA NA intronic ENSG00000172375 NA NA NA NA NA 11q23.3 NA NA NA NA rs682795 0.54 0.54 0.547 0.579473 0.5368 0.2788 0.7061 0.7784 0.5746 0.54 0.25 0.67 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663933 NA NA NA NA NA 0.543 NA 3.4632 1306 11 130332338 130332338 A G intronic ADAMTS15 NA NA NA intronic ENSG00000166106 NA NA NA NA NA 11q24.3 NA NA NA NA rs11604959 0.49 0.49 0.503 0.470447 0.5368 0.37 0.3761 0.559 0.453 0.54 0.39 0.41 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900591 NA NA NA NA NA 0.572 NA 3.4632 1306 12 124360117 124360117 G T intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs10846567 0.47 0.47 0.469 0.479034 0.5368 0.2847 0.5245 0.5719 0.4622 0.54 0.29 0.54 0.53 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.267427 NA NA NA NA NA 0.442 NA 3.4632 1306 12 124364441 124364441 T A intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs1882489 0.47 0.47 0.472 0.472644 0.5368 0.2877 0.5216 0.5477 0.4611 0.54 0.29 0.54 0.53 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.100098 NA NA NA NA NA 0.413 NA 3.4632 1306 7 20691013 20691013 C T intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA NA NA NA rs3213623 0.25 0.25 0.248 0.289337 0.1551 0.2034 0.2406 0.4985 0.2679 0.16 0.2 0.23 0.45 0.2182 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.26249 2.26249 NA 0.163605 0.465275 NA 0.283 NA 3.463095 1306 7 47872845 47872845 A G exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon41:c.T6180C:p.P2060P exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon41:c.T6180C:p.P2060P NA NA 7p12.3 NA NA NA NA rs921634 0.76 0.76 0.755 0.730631 0.7346 0.9028 0.7305 0.6505 0.6575 0.73 0.89 0.75 0.67 0.7333 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006259 NA NA 0.735814 0.670222 ID=COSM1162465;OCCURENCE=1(pancreas) 0.761 NA 3.4629526 1306 11 72288664 72288664 C T intronic PDE2A NA NA NA intronic ENSG00000186642 NA NA NA NA NA 11q13.4 Score=876;Name=V$COUP_01 NA NA NA rs1980090 0.67 0.67 0.672 0.682508 0.4871 0.752 0.6787 0.8283 0.6176 0.51 0.78 0.63 0.83 0.5742 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441834 NA NA 0.475775 0.757045 NA 0.638 NA 3.462925 1306 9 99799056 99799056 A C intronic CTSL2 NA NA NA intronic ENSG00000136943 NA NA NA NA NA 9q22.33 NA NA NA NA rs10980241 0.35 0.35 0.372 0.370607 0.159 0.5387 0.1888 0.5348 0.3221 0.17 0.56 0.19 0.49 0.2335 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812385 NA NA 0.144767 0.514299 NA 0.268 NA 3.462733 1306 1 243471192 243471192 A G intronic SDCCAG8 NA NA NA intronic ENSG00000054282 NA NA NA NA NA 1q43 NA NA NA NA rs953492 0.57 0.57 0.582 0.513978 0.5378 0.7391 0.6081 0.3434 0.4213 0.54 0.74 0.6 0.39 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614235 NA NA NA NA NA 0.478 NA 3.4622 1306 3 73004157 73004157 T G intronic GXYLT2 NA NA NA intronic ENSG00000172986 NA NA NA NA NA 3p13 NA NA NA NA rs1532190 0.29 0.29 0.254 0.275759 0.5378 0.1409 0.366 0.0416 0.3978 0.53 0.13 0.38 0.04 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568411 NA NA NA NA NA 0.181 NA 3.4622 1306 15 33757840 33757840 G A intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2596163 0.59 0.59 0.607 0.591653 0.5378 0.5119 0.5778 0.7519 0.5225 0.54 0.53 0.58 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587704 NA NA NA NA NA 0.652 NA 3.4622 1306 17 45750596 45750596 G A intronic KPNB1 NA NA NA intronic ENSG00000108424 NA NA NA NA NA 17q21.32 NA NA NA NA rs3809868 0.56 0.56 0.549 0.544529 0.5378 0.6657 0.6556 0.3767 0.5746 0.53 0.65 0.6 0.46 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.016159 NA NA NA NA NA 0.58 NA 3.4622 1306 19 11129429 11129429 C G intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs10417443 0.71 0.71 0.758 0.716054 0.5378 0.8065 0.4625 0.9743 0.637 0.53 0.86 0.51 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.077659 NA NA NA NA NA 0.667 NA 3.4622 1306 19 35294385 35294385 A G intergenic ZNF599,LOC400685 dist=30251;dist=12673 NA NA ncRNA_intronic ENSG00000267767 NA NA NA NA NA 19q13.11 NA NA NA NA rs11670866 0.55 0.55 0.544 0.537939 0.5378 0.5575 0.3746 0.6127 0.5327 0.55 0.56 0.46 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23543 NA NA NA NA NA 0.638 NA 3.4622 1306 20 23064810 23064810 C T intronic CD93 NA NA NA intronic ENSG00000125810 NA NA NA NA NA 20p11.21 NA NA NA NA rs11087413 0.56 0.56 0.534 0.567492 0.5378 0.7808 0.621 0.326 0.6667 0.52 0.79 0.58 0.33 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70371 NA NA NA NA NA 0.58 NA 3.4622 1306 1 204242731 204242731 C A intronic PLEKHA6 NA NA NA intronic ENSG00000143850 NA NA NA NA NA 1q32.1 NA NA NA NA rs35803438 0.2 0.2 0.189 0.20028 0.1769 0.2946 0.2406 0.1278 0.1963 0.17 0.26 0.23 0.14 0.1893 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062752 NA NA 0.17186 0.143214 ID=COSN163407;OCCURENCE=1(breast),1(endometrium) 0.196 NA 3.46194 1306 6 125621645 125621645 C T intronic HDDC2 NA NA NA intronic ENSG00000111906 NA NA NA NA NA 6q22.31 NA NA NA NA rs2243389 0.26 0.26 0.281 0.258586 0.174 0.1429 0.2219 0.562 0.0808 0.16 0.13 0.24 0.59 0.1846 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352283 NA NA 0.179571 0.497932 ID=COSN167886;OCCURENCE=1(large_intestine) 0.261 NA 3.461829 1306 7 42977243 42977243 T C UTR3 MRPL32 NM_031903:c.*68T>C NA NA UTR3 ENSG00000106591 ENST00000223324:c.*68T>C,ENST00000413995:c.*389T>C NA NA NA NA 7p14.1 NA NA NA NA rs631928 0.86 0.86 0.848 0.85004 0.8718 0.9107 0.7637 0.7806 0.9202 0.88 0.91 0.82 0.79 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.156669 NA NA NA NA NA 0.891 NA 3.4615334 1306 8 125088636 125088636 A G intronic FER1L6 NA NA NA ncRNA_intronic ENSG00000253868 NA NA NA NA NA 8q24.13 NA NA NA NA rs9643188 0.82 0.82 0.822 0.809704 0.8718 0.6944 0.7219 0.8858 0.8241 0.86 0.73 0.75 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2378 NA NA NA NA NA 0.906 NA 3.4615333 1306 8 91963472 91963472 T G intronic NECAB1 NA NA NA intronic ENSG00000123119 NA NA NA NA NA 8q21.3 NA NA NA NA rs71528761 0.28 0.28 NA 0.255391 0.2654 0.3482 0.3963 0.1157 0.2382 0.26 0.36 0.37 0.16 0.2734 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448437 NA NA NA NA NA NA NA 3.4612 1306 17 38142677 38142677 A C intronic PSMD3 NA NA NA intronic ENSG00000108344 NA NA NA NA NA 17q21.1 NA NA NA NA rs3816472 0.55 0.55 0.569 0.551917 0.5388 0.4325 0.5807 0.6747 0.502 0.54 0.41 0.6 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097203 NA NA NA NA NA 0.645 NA 3.4612 1306 17 48655493 48655493 A G intronic CACNA1G NA NA NA intronic ENSG00000006283 NA NA NA NA NA 17q21.33 NA NA NA NA rs198551 0.68 0.68 0.68 0.69369 0.5388 0.9355 0.6282 0.6513 0.7076 0.54 0.94 0.59 0.66 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568957 NA NA NA NA NA 0.587 NA 3.4612 1306 6 152522926 152522926 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs2253512 0.14 0.14 0.132 0.134585 0.2127 0.1419 0.147 0.0605 0.138 0.2 0.13 0.17 0.05 0.1496 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727226 NA NA 0.176744 0.067181 NA 0.123 NA 3.460956 1306 19 45690460 45690460 A G intergenic BLOC1S3,EXOC3L2 dist=5402;dist=25419 NA NA intronic ENSG00000007047,ENSG00000267545 NA NA NA NA NA 19q13.32 NA NA NA NA rs12974200 0.12 0.12 0.105 0.125399 0.2058 0.0258 0.2305 0.0461 0.1779 0.21 0.02 0.19 0.04 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5685 NA NA NA NA NA 0.109 NA 3.4608667 1306 20 47691445 47691445 C T intronic CSE1L NA NA NA intronic ENSG00000124207 NA NA NA NA NA 20q13.13 NA NA NA NA rs3092153 0.31 0.31 0.273 0.290935 0.2753 0.4802 0.3573 0.0764 0.3548 0.27 0.51 0.32 0.12 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.927124 1.927124 NA 0.263836 0.125 ID=COSN166565;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.37 NA 3.460864 1306 17 48269302 48269302 G A intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA Name=Pol2 Name=13 NA rs2857396 0.9 0.9 0.888 0.908347 0.832 0.9851 0.9207 0.9009 0.909 0.83 0.98 0.91 0.89 0.8735 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123216 NA NA 0.833953 0.884476 NA 0.87 NA 3.460547 1306 7 42959199 42959199 G C intronic PSMA2 NA NA NA ncRNA_exonic ENSG00000234983 NA NA NA NA NA 7p14.1 NA NA NA NA rs653853 0.86 0.86 0.861 0.850639 0.8728 0.9097 0.7666 0.7814 0.9202 0.88 0.91 0.82 0.79 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.082964 NA NA NA NA NA 0.891 NA 3.4605333 1306 3 10264299 10264299 C T intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs813591 0.33 0.33 0.323 0.373203 0.1491 0.6399 0.2738 0.3306 0.4571 0.14 0.63 0.25 0.36 0.2553 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543951 NA NA 0.135116 0.310486 NA 0.246 NA 3.460484 1306 17 10267610 10267610 C T intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791981 0.14 0.14 0.141 0.177716 0.1759 0.0595 0.1398 0.1921 0.3088 0.17 0.06 0.14 0.2 0.1912 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870437 NA NA 0.172544 0.170673 NA 0.181 NA 3.460356 1306 2 160073895 160073895 G C intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA NA NA rs4665042 0.26 0.26 0.243 0.202077 0.5398 0.0476 0.2939 0.025 0.1881 0.53 0.05 0.33 0.04 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582289 NA NA NA NA NA 0.29 NA 3.4602 1306 11 105844923 105844923 C A intronic GRIA4 NA NA NA intronic ENSG00000152578 NA NA NA NA NA 11q22.3 NA NA NA NA rs509512 0.6 0.6 0.572 0.593251 0.5398 0.6141 0.6542 0.5953 0.5808 0.55 0.62 0.65 0.62 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.941587 1.941587 NA NA NA NA 0.529 NA 3.4602 1306 16 70400857 70400857 A G intronic DDX19A NA NA NA intronic ENSG00000168872 NA NA NA NA NA 16q22.1 NA NA NA NA rs8058224 0.55 0.55 0.547 0.535743 0.5398 0.4345 0.4409 0.826 0.3108 0.53 0.41 0.46 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872321 NA NA NA NA NA 0.5 NA 3.4602 1306 4 1732695 1732695 G C intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA NA NA NA rs4577642 0.13 0.13 0.119 0.139377 0.1759 0.0119 0.1239 0.202 0.1595 0.17 0.01 0.13 0.2 0.1619 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294445 NA NA 0.20214 0.205402 NA 0.051 NA 3.46006 1306 1 200960898 200960898 A T intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs12145860 0.25 0.25 0.241 0.257788 0.1541 0.2976 0.196 0.4342 0.1288 0.16 0.32 0.16 0.39 0.2078 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422658 NA NA 0.17814 0.403995 NA 0.217 NA 3.45996 1306 4 1737071 1737071 C A intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA NA NA NA rs17681032 0.13 0.13 0.129 0.140575 0.1759 0.0119 0.1254 0.2057 0.1595 0.17 0.01 0.14 0.2 0.1621 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858774 NA NA 0.202093 0.207898 NA 0.058 NA 3.459907 1306 1 207139046 207139046 A G intronic FCAMR NA NA NA intronic ENSG00000162897 NA NA NA NA NA 1q32.1 NA NA NA NA rs11576146 0.21 0.21 0.186 0.189497 0.162 0.3165 0.1513 0.2141 0.0808 0.17 0.29 0.16 0.24 0.1904 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854523 NA NA 0.187744 0.182717 NA 0.268 NA 3.459856 1306 3 41795841 41795841 A C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs9867627 0.21 0.21 0.21 0.216653 0.1839 0.1458 0.1484 0.3585 0.18 0.19 0.15 0.15 0.36 0.1864 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.867603 1.867603 NA 0.16988 0.359459 NA 0.246 NA 3.45982 1306 2 167085124 167085124 T G intronic SCN9A NA NA NA ncRNA_intronic ENSG00000236107 NA NA NA NA NA 2q24.3 NA NA NA NA rs10199799 0.89 0.89 0.9 0.890575 0.8738 0.9563 0.879 0.9175 0.8119 0.86 0.94 0.88 0.89 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230982 NA NA NA NA NA 0.833 NA 3.4595333 1306 6 13288535 13288535 C T intronic LOC100130357 NA NA NA ncRNA_intronic ENSG00000215022 NA NA NA NA NA 6p24.1 NA NA NA NA rs202040 0.83 0.83 0.852 0.842652 0.8738 0.6518 0.8833 0.9539 0.8282 0.86 0.64 0.88 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622599 NA NA NA NA NA 0.877 NA 3.4595333 1306 12 125438616 125438616 A C intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs11831506 0.26 0.26 0.301 0.261382 0.172 0.1498 0.2046 0.5454 0.1247 0.17 0.15 0.2 0.56 0.1979 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102889 NA NA 0.170814 0.506355 NA 0.399 NA 3.459286 1306 17 79817005 79817005 G A intronic P4HB NA NA NA intronic ENSG00000185624 NA NA NA NA NA 17q25.3 NA NA NA NA rs1010954 0.16 0.16 0.156 0.138978 0.174 0.0883 0.232 0.1528 0.0706 0.18 0.1 0.21 0.15 0.1689 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37063 NA NA 0.197891 0.170091 NA 0.174 NA 3.459209 1306 3 126218788 126218788 T C intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA NA NA NA rs6774768 0.53 0.53 0.506 0.53115 0.5408 0.5228 0.4986 0.4743 0.6299 0.55 0.56 0.5 0.47 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042604 NA NA NA NA NA 0.565 NA 3.4592 1306 6 31106643 31106643 G A intronic PSORS1C1,PSORS1C2 NA NA NA intronic ENSG00000204538,ENSG00000204540 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265095 0.56 0.56 0.563 0.605032 0.5408 0.4494 0.5663 0.7103 0.7168 0.55 0.47 0.54 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080526 NA NA NA NA NA 0.551 NA 3.4592 1306 6 119522353 119522353 T C intronic MAN1A1 NA NA NA intronic ENSG00000111885 NA NA NA NA NA 6q22.31 NA NA NA NA rs9481890 0.39 0.39 0.358 0.360423 0.5408 0.2034 0.3271 0.3623 0.3579 0.54 0.17 0.39 0.4 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382918 NA NA NA NA NA 0.377 NA 3.4592 1306 9 137592961 137592961 T C intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs4341231 0.59 0.59 0.613 0.623802 0.5408 0.7341 0.3862 0.702 0.6585 0.54 0.67 0.41 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311851 NA NA NA NA NA 0.638 NA 3.4592 1306 20 3355567 3355567 T C intronic C20orf194 NA NA NA intronic ENSG00000088854 NA NA NA NA NA 20p13 NA NA NA NA rs2208030 0.49 0.49 0.478 0.511981 0.5408 0.4861 0.4957 0.444 0.6125 0.54 0.46 0.49 0.46 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.866192 1.866192 NA NA NA ID=COSN166465;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.514 NA 3.4592 1306 21 15884949 15884949 A T intronic SAMSN1 NA NA NA intronic ENSG00000155307 NA NA NA NA NA 21q11.2 NA NA NA NA rs3761320 0.56 0.56 0.567 0.558906 0.5408 0.6071 0.3847 0.6528 0.5245 0.55 0.61 0.4 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479603 NA NA NA NA NA 0.507 NA 3.4592 1306 18 77132755 77132755 T G intronic ATP9B NA NA NA intronic ENSG00000166377 NA NA NA NA NA 18q23 NA NA NA NA rs2271392 0.29 0.29 0.279 0.28095 0.2634 0.4911 0.2032 0.0681 0.4254 0.27 0.53 0.23 0.08 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512448 NA NA 0.277498 0.101879 NA 0.225 NA 3.459102 1306 4 20709411 20709411 C T intronic PACRGL NA NA NA intronic ENSG00000163138 NA NA NA NA NA 4p15.31 NA NA NA NA rs57364495 0.15 0.15 0.144 0.13758 0.1819 0.0784 0.196 0.1445 0.1022 0.18 0.09 0.18 0.16 0.1733 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47528 1.47528 NA 0.1859 0.133227 NA 0.138 NA 3.4589 1306 10 134916366 134916366 G A intronic GPR123 NA NA NA intronic ENSG00000197177 NA NA NA NA NA 10q26.3 NA NA NA NA rs12219529 0.3 0.3 0.264 0.300319 0.163 0.4911 0.3127 0.2496 0.3047 0.17 0.51 0.27 0.26 0.2325 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.954937 NA NA 0.145698 0.250567 NA 0.094 NA 3.458802 1306 13 99127052 99127052 C T intronic STK24 NA NA NA intronic ENSG00000102572 NA NA NA NA NA 13q32.2 NA NA NA NA rs9582232 0.14 0.14 0.157 0.136581 0.1839 0.126 0.1427 0.0961 0.1493 0.19 0.11 0.14 0.1 0.1687 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39796 NA NA 0.188721 0.099864 NA 0.08 NA 3.458679 1306 17 78292945 78292945 G A intronic RNF213 NA NA NA intronic ENSG00000173821 NA NA NA NA NA 17q25.3 NA NA NA NA rs6565666 0.2 0.2 0.23 0.211062 0.1879 0.1468 0.1311 0.3419 0.181 0.2 0.13 0.14 0.34 0.1769 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952796 NA NA 0.176628 0.333182 NA 0.268 NA 3.458572 1306 6 33656416 33656416 G A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296737 0.12 0.12 0.133 0.10623 0.1909 0.0506 0.1787 0.0628 0.0838 0.19 0.06 0.16 0.06 0.1587 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339076 NA NA 0.192093 0.092601 NA 0.123 NA 3.458307 1306 2 83446208 83446208 T C intergenic LOC1720,FUNDC2P2 dist=361315;dist=1071598 NA NA ncRNA_exonic ENSG00000223977 NA NA NA NA NA 2p11.2 NA NA NA NA rs7591274 0.56 0.56 0.518 0.523962 0.5417 0.8948 0.5245 0.2352 0.5133 0.54 0.92 0.5 0.23 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458097 NA NA NA NA NA 0.594 NA 3.4583 1306 4 9711634 9711634 C G intergenic MIR548I2,DRD5 dist=153697;dist=71624 NA NA ncRNA_intronic ENSG00000251087 NA NA NA NA NA 4p16.1 NA NA NA NA rs66534644 0.42 0.42 0.412 0.381589 0.5417 0.373 0.438 0.2345 0.3845 0.56 0.38 0.49 0.2 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438606 NA NA NA NA NA 0.304 NA 3.4583 1306 17 39723451 39723451 A G intronic KRT9 NA NA NA intronic ENSG00000171403 NA NA NA NA NA 17q21.2 NA NA NA NA rs6503636 0.65 0.65 0.625 0.665735 0.5417 0.9444 0.7133 0.4728 0.7331 0.54 0.95 0.66 0.48 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008316 NA NA NA NA NA 0.638 NA 3.4583 1306 21 10910291 10910291 C T intronic TPTE NA NA NA intronic ENSG00000166157 NA NA NA NA NA 21p11.1 NA NA NA NA rs150480 0.58 0.58 0.557 NA NA NA NA NA NA 0.47 0.54 0.52 0.82 0.5417 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298663 NA NA NA NA NA 0.507 NA 3.4583 1306 21 22840930 22840930 A C intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA NA NA NA rs2250501 0.41 0.41 0.41 0.413339 0.5417 0.0565 0.415 0.6142 0.3763 0.55 0.05 0.44 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.356483 2.356483 NA NA NA NA 0.507 NA 3.4583 1306 2 3627648 3627648 G C intronic RPS7 NA NA NA intronic ENSG00000171863 NA NA NA NA NA 2p25.3 NA NA Name=4 NA rs7576238 0.87 0.87 0.878 0.902556 0.7674 0.997 0.8602 0.9289 0.9387 0.77 1 0.84 0.91 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684766 NA NA 0.774736 0.917808 NA 0.819 NA 3.457864 1306 1 94473896 94473896 G T intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs2275031 0.19 0.19 0.174 0.178115 0.1839 0.121 0.1758 0.2655 0.1145 0.17 0.16 0.19 0.25 0.1735 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057289 NA NA 0.184884 0.232864 ID=COSN163161;OCCURENCE=1(breast) 0.174 NA 3.457716 1306 16 84495770 84495770 G A intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs2241639 0.27 0.27 0.253 0.247404 0.3241 0.2609 0.2421 0.2632 0.137 0.32 0.22 0.27 0.24 0.2657 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375624 NA NA 0.285887 0.263496 NA 0.319 NA 3.4576463 1306 1 168511155 168511155 T C intronic XCL2 NA NA NA intronic ENSG00000143185 NA NA NA NA NA 1q24.2 NA NA NA NA rs76400946 0.61 0.61 0.599 0.661741 0.5427 0.8661 0.6527 0.6059 0.6554 0.5 0.84 0.58 0.53 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302481 NA NA NA NA NA 0.594 NA 3.4573 1306 3 37575039 37575039 G A intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA NA NA 3p22.2 NA NA NA NA rs267560 0.61 0.61 0.587 0.559105 0.5427 0.8046 0.6844 0.4486 0.3834 0.54 0.82 0.7 0.42 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230757 NA NA NA NA NA 0.63 NA 3.4573 1306 7 99473624 99473624 T G downstream OR2AE1 NA NA NA UTR3 ENSG00000244623 ENST00000316368:c.*61A>C NA NA NA NA 7q22.1 NA NA NA NA rs1025576 0.56 0.56 0.583 0.589657 0.5427 0.2927 0.4625 0.9342 0.5685 0.56 0.26 0.51 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71693 NA NA NA NA NA 0.623 NA 3.4573 1306 9 119903506 119903506 C T intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs10817999 0.54 0.54 0.523 0.53135 0.5427 0.6657 0.6499 0.3056 0.6022 0.56 0.65 0.6 0.34 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172128 NA NA NA NA NA 0.609 NA 3.4573 1306 14 23816998 23816998 T C intronic SLC22A17 NA NA NA intronic ENSG00000092096 NA NA NA NA NA 14q11.2 NA NA NA NA rs12896494 0.65 0.65 0.654 0.653754 0.5427 0.6667 0.696 0.77 0.5675 0.54 0.71 0.66 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.300825 NA NA NA NA NA 0.645 NA 3.4573 1306 14 107057474 107057474 G T intergenic LINC00221,NONE dist=105945;dist=NONE NA NA ncRNA_exonic ENSG00000253689 NA NA NA NA NA 14q32.33 NA NA NA NA rs6576196 0.57 0.57 0.571 0.614018 0.5427 0.506 0.5317 0.7141 0.7219 0.54 0.49 0.52 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059684 NA NA NA NA NA 0.514 NA 3.4573 1306 16 72122765 72122765 G A intronic TXNL4B NA NA NA intronic ENSG00000140830 NA NA NA NA NA 16q22.2 NA NA NA NA rs12932845 0.55 0.55 0.585 0.590455 0.5427 0.377 0.4164 0.8222 0.6697 0.54 0.39 0.45 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172377 NA NA NA NA NA 0.638 NA 3.4573 1306 19 3749971 3749971 A G intronic TJP3 NA NA NA intronic ENSG00000105289 NA NA NA NA NA 19p13.3 NA NA NA NA rs7257905 0.53 0.53 0.478 0.516773 0.5427 0.6399 0.6556 0.2731 0.5941 0.53 0.68 0.65 0.26 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872641 NA NA NA NA NA 0.536 NA 3.4573 1306 22 40800518 40800518 G A intronic SGSM3 NA NA NA intronic ENSG00000100359 NA NA NA NA NA 22q13.1 NA NA NA NA rs760701 0.21 0.21 0.18 0.184105 0.1571 0.2143 0.438 0.1006 0.1135 0.16 0.24 0.38 0.13 0.2162 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011946 NA NA 0.169651 0.126872 NA 0.246 NA 3.457049 1306 6 41217395 41217395 G A downstream TREML5P NA NA NA downstream ENSG00000225690 NA NA NA NA NA 6p21.1 NA NA NA NA rs6917028 0.28 0.28 0.241 0.262181 0.2097 0.4018 0.2262 0.2171 0.2587 0.23 0.42 0.2 0.24 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3978 NA NA NA NA NA 0.196 NA 3.4569666 1306 15 84611630 84611630 G A intronic ADAMTSL3 NA NA NA intronic ENSG00000156218 NA NA NA NA NA 15q25.2 NA NA NA NA rs12901723 0.11 0.11 0.098 0.0952476 0.1869 0.0337 0.1527 0.0129 0.135 0.19 0.04 0.16 0.02 0.1622 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017034 NA NA 0.193953 0.037676 NA 0.065 NA 3.456947 1306 20 47614665 47614665 G A intronic ARFGEF2 NA NA NA intronic ENSG00000124198 NA NA NA NA NA 20q13.13 NA NA NA NA rs3764681 0.3 0.3 0.261 0.289337 0.2753 0.4812 0.3545 0.0711 0.3548 0.27 0.51 0.32 0.11 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708198 NA NA 0.267756 0.124277 ID=COSN166561;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.377 NA 3.456944 1306 7 75630183 75630183 C T intronic STYXL1 NA NA NA intronic ENSG00000127952 NA NA NA NA NA 7q11.23 NA NA NA NA rs2302434 0.21 0.21 0.17 0.197484 0.1759 0.2579 0.2248 0.1793 0.1626 0.18 0.28 0.23 0.15 0.1991 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719793 NA NA 0.16814 0.172038 NA 0.094 NA 3.45686 1306 16 28615708 28615708 G A intergenic SULT1A2,SULT1A1 dist=7317;dist=1200 NA NA intergenic ENSG00000197165,ENSG00000196502 dist=7278;dist=1195 NA NA Score=604;Name=lod=380 NA 16p11.2 NA NA NA NA rs11074904 0.85 0.85 0.846 0.839257 0.8767 0.996 0.8689 0.6241 0.909 0.89 0.99 0.85 0.63 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031207 NA NA NA NA NA 0.819 NA 3.4566334 1306 6 32546866 32546866 T C UTR3 HLA-DRB1 NM_002124:c.*2A>G,NM_001243965:c.*2A>G NA NA UTR3 ENSG00000196126 ENST00000360004:c.*2A>G NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9269693 0.74 0.74 0.688 0.695088 0.6571 0.6944 0.719 0.7693 0.6176 0.71 0.76 0.74 0.76 0.6108 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266581 NA NA 0.608934 0.685491 NA 0.478 NA 3.4564994 1306 7 35673799 35673799 T C intronic HERPUD2 NA NA NA intronic ENSG00000122557 NA NA NA NA NA 7p14.2 NA NA NA NA rs2305333 0.64 0.64 0.627 0.652157 0.5437 0.7321 0.598 0.7012 0.6534 0.54 0.74 0.6 0.71 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.528106 NA NA NA NA NA 0.674 NA 3.4563 1306 9 130149403 130149403 G A intronic GARNL3 NA NA NA intronic ENSG00000136895 NA NA NA NA NA 9q33.3 NA NA NA NA rs4837149 0.45 0.45 0.431 0.477236 0.5437 0.5585 0.3804 0.2716 0.6718 0.55 0.53 0.4 0.26 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.572258 3.572258 NA NA NA NA 0.551 NA 3.4563 1306 12 122999535 122999535 C T intronic RSRC2 NA NA NA intronic ENSG00000111011 NA NA NA NA NA 12q24.31 NA NA NA NA rs6489056 0.45 0.45 0.437 0.444888 0.5437 0.4345 0.4597 0.3048 0.5327 0.56 0.4 0.42 0.34 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618106 NA NA NA NA NA 0.449 NA 3.4563 1306 14 50736725 50736725 C T intronic L2HGDH NA NA NA intronic ENSG00000087299 NA NA NA NA NA 14q21.3 NA NA NA NA rs2153553 0.49 0.49 0.487 0.48722 0.5437 0.6369 0.4697 0.3033 0.5358 0.54 0.63 0.46 0.29 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.209576 NA NA NA NA NA 0.333 NA 3.4563 1306 17 31351121 31351121 A G intronic ASIC2 NA NA NA intronic ENSG00000108684 NA NA NA NA NA 17q11.2 NA NA NA NA rs16569 0.6 0.6 0.555 0.616414 0.5437 0.5655 0.7334 0.6641 0.5961 0.55 0.55 0.72 0.65 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689541 NA NA NA NA NA 0.616 NA 3.4563 1306 19 47037297 47037297 C T intronic PPP5D1 NA NA NA intronic ENSG00000230510 NA NA NA NA NA 19q13.32 NA NA NA NA rs10419176 0.49 0.49 0.479 0.48742 0.5437 0.3006 0.5793 0.528 0.502 0.55 0.36 0.56 0.49 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305846 NA NA NA NA NA 0.471 NA 3.4563 1306 19 47037305 47037305 G A intronic PPP5D1 NA NA NA intronic ENSG00000230510 NA NA NA NA NA 19q13.32 NA NA NA NA rs10419555 0.49 0.49 0.478 0.48742 0.5437 0.3006 0.5793 0.528 0.502 0.55 0.36 0.56 0.49 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02961 NA NA NA NA NA 0.478 NA 3.4563 1306 19 55019607 55019607 T C intronic LAIR2 NA NA NA intronic ENSG00000167618 NA NA NA NA NA 19q13.42 NA NA NA NA rs2277972 0.63 0.63 0.586 0.629393 0.5437 0.7401 0.5821 0.6831 0.5644 0.52 0.75 0.62 0.65 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.47968 NA NA NA NA NA 0.58 NA 3.4563 1306 4 77039352 77039352 A G intronic NUP54 NA NA NA intronic ENSG00000138750 NA NA NA NA NA 4q21.1 NA NA NA NA rs13115827 0.22 0.22 0.188 0.191893 0.1779 0.3532 0.1715 0.1218 0.1493 0.18 0.37 0.19 0.12 0.1879 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.297442 1.297442 NA 0.178023 0.140554 NA 0.109 NA 3.456177 1306 1 200960886 200960886 C T intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs12123633 0.26 0.26 0.251 0.264177 0.1541 0.2976 0.2032 0.4531 0.1309 0.16 0.32 0.17 0.41 0.2117 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861629 NA NA 0.178256 0.422152 NA 0.217 NA 3.455944 1306 16 89964952 89964952 A G intronic TCF25 NA NA NA intronic ENSG00000141002 NA NA NA NA NA 16q24.3 NA NA NA NA rs72813432 0.13 0.13 0.133 0.132188 0.1859 0.0079 0.1585 0.1324 0.1861 0.19 0.01 0.19 0.14 0.1725 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.297255 NA NA 0.185814 0.144677 NA 0.145 NA 3.455786 1306 11 51451441 51451441 A G intergenic OR4A5,OR4C46 dist=38993;dist=63841 NA NA ncRNA_exonic ENSG00000227547 NA NA NA NA NA 11p11.12 NA NA NA NA rs561951 0.46 0.46 0.423 0.428115 0.5447 0.5387 0.585 0.1899 0.4049 0.54 0.53 0.59 0.15 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.288884 NA NA NA NA NA 0.333 NA 3.4553 1306 5 1442974 1442974 C A intronic SLC6A3 NA NA NA intronic ENSG00000142319 NA NA NA NA NA 5p15.33 NA NA NA NA rs2254408 0.42 0.42 0.413 0.438898 0.5447 0.1905 0.3689 0.5514 0.4836 0.53 0.16 0.46 0.51 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261953 NA NA NA NA NA 0.457 NA 3.4553 1306 7 48273869 48273869 T C intronic ABCA13 NA NA NA intronic ENSG00000179869 NA NA NA NA NA 7p12.3 NA NA NA NA rs7357106 0.45 0.45 0.472 0.426518 0.5447 0.1746 0.4121 0.5666 0.3855 0.54 0.19 0.42 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408673 NA NA NA NA NA 0.42 NA 3.4553 1306 7 130007598 130007598 A G intronic CPA5 NA NA NA intronic ENSG00000158525 NA NA NA NA NA 7q32.2 NA NA NA NA rs748812 0.56 0.56 0.553 0.571885 0.5447 0.4444 0.6239 0.767 0.4305 0.55 0.44 0.59 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834705 NA NA NA NA NA 0.529 NA 3.4553 1306 7 130007913 130007913 T G intronic CPA5 NA NA NA intronic ENSG00000158525 NA NA NA NA NA 7q32.2 NA NA NA NA rs2241273 0.56 0.56 0.533 0.569089 0.5447 0.4435 0.6196 0.761 0.4284 0.55 0.44 0.58 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928557 NA NA NA NA NA 0.529 NA 3.4553 1306 12 110002819 110002819 A G intronic MMAB NA NA NA intronic ENSG00000139428 NA NA NA NA NA 12q24.11 NA NA NA NA rs10850380 0.52 0.52 0.537 0.518371 0.5447 0.3125 0.4928 0.7723 0.3783 0.56 0.29 0.51 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431241 NA NA NA NA NA 0.565 NA 3.4553 1306 14 31922408 31922408 G A intronic DTD2 NA NA NA intronic ENSG00000129480,ENSG00000203546 NA NA NA NA NA 14q12 NA NA NA NA rs34278949 0.46 0.46 0.425 0.475839 0.5447 0.4107 0.5331 0.4213 0.5051 0.52 0.38 0.47 0.44 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685106 NA NA NA NA NA 0.507 NA 3.4553 1307 22 40800544 40800544 C T intronic SGSM3 NA NA NA intronic ENSG00000100359 NA NA NA NA NA 22q13.1 NA NA NA NA rs2235318 0.21 0.21 0.176 0.183706 0.1581 0.2143 0.438 0.0976 0.1145 0.16 0.24 0.38 0.13 0.2174 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.315395 NA NA 0.169535 0.126872 NA 0.246 NA 3.454965 1307 1 226026241 226026241 C G intronic EPHX1 NA NA NA intronic ENSG00000143819 NA NA NA NA NA 1q42.12 NA NA NA NA rs4149223 0.53 0.53 0.454 0.497204 0.5457 0.5685 0.6254 0.3472 0.4857 0.56 0.57 0.62 0.36 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134597 NA NA NA NA NA 0.58 NA 3.4543 1307 3 97957349 97957349 G A intergenic OR5H15,OR5H6 dist=68864;dist=25780 NA NA ncRNA_exonic ENSG00000187900 NA NA NA NA NA 3q11.2 NA NA NA NA rs6439722 0.58 0.58 0.577 0.573482 0.5457 0.4931 0.5 0.705 0.5593 0.54 0.56 0.48 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339169 NA 0.01 NA NA NA 0.522 NA 3.4543 1307 10 99778226 99778226 A G intronic CRTAC1 NA NA NA intronic ENSG00000095713 NA NA NA NA NA 10q24.2 NA NA NA NA rs2439823 0.47 0.47 0.503 0.470048 0.5457 0.2292 0.3617 0.7057 0.3988 0.54 0.24 0.42 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438684 NA NA NA NA NA 0.529 NA 3.4543 1307 10 117849106 117849106 G A intronic GFRA1 NA NA NA intronic ENSG00000151892 NA NA NA NA NA 10q25.3 NA NA NA NA rs56346845 0.27 0.27 0.259 0.260383 0.5457 0.1111 0.2925 0.0303 0.409 0.54 0.09 0.31 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949778 NA NA NA NA NA 0.203 NA 3.4543 1307 10 117849113 117849113 T C intronic GFRA1 NA NA NA intronic ENSG00000151892 NA NA NA NA NA 10q25.3 NA NA NA NA rs56384669 0.27 0.27 0.263 0.26278 0.5457 0.1141 0.2954 0.0348 0.41 0.54 0.1 0.31 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798947 NA NA NA NA NA 0.203 NA 3.4543 1307 10 124036226 124036226 T C intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA NA NA rs7086403 0.73 0.73 0.752 0.735024 0.5457 0.8869 0.7075 0.8691 0.6115 0.56 0.9 0.67 0.86 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691201 NA NA NA NA NA 0.674 NA 3.4543 1307 11 51426513 51426513 C T intergenic OR4A5,OR4C46 dist=14065;dist=88769 NA NA ncRNA_exonic ENSG00000255349 NA NA NA NA NA 11p11.12 NA NA NA NA rs510697 0.47 0.47 0.453 0.431709 0.5457 0.5407 0.5821 0.2027 0.4049 0.56 0.53 0.59 0.16 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.53402 NA NA NA NA NA 0.355 NA 3.4543 1307 11 51451575 51451575 G A intergenic OR4A5,OR4C46 dist=39127;dist=63707 NA NA ncRNA_exonic ENSG00000227547 NA NA NA NA NA 11p11.12 NA NA NA NA rs542985 0.44 0.44 0.401 0.43151 0.5457 0.5357 0.5807 0.2065 0.4049 0.53 0.5 0.54 0.16 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.172715 NA NA NA NA NA 0.304 NA 3.4543 1307 16 72157000 72157000 C G intronic PMFBP1 NA NA NA intronic ENSG00000118557 NA NA NA NA NA 16q22.2 NA NA NA NA rs12935266 0.64 0.64 0.646 0.66853 0.5457 0.63 0.6268 0.8064 0.6779 0.54 0.66 0.6 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159672 NA NA NA NA NA 0.681 NA 3.4543 1307 17 29849479 29849479 C T intronic RAB11FIP4 NA NA NA intronic ENSG00000131242 NA NA NA NA NA 17q11.2 NA NA NA NA rs60594701 0.23 0.23 0.199 0.202676 0.2734 0.12 0.2622 0.236 0.1278 0.27 0.13 0.32 0.23 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200213 NA NA 0.27247 0.222543 NA 0.167 NA 3.45413 1307 6 74135016 74135016 C T exonic MB21D1 NA synonymous SNV MB21D1:NM_138441:exon5:c.G1503A:p.K501K exonic ENSG00000164430 NA synonymous SNV ENSG00000164430:ENST00000370315:exon5:c.G1503A:p.K501K NA NA 6q13 NA NA NA NA rs311678 0.71 0.71 0.709 0.718051 0.7475 0.7262 0.6138 0.6679 0.8211 0.75 0.72 0.64 0.68 0.7216 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253866 NA NA 0.743605 0.672946 NA 0.819 NA 3.4539616 1307 17 40720632 40720632 G A intronic MLX NA NA NA intronic ENSG00000108788 NA NA NA NA NA 17q21.2 NA NA NA NA rs646123 0.29 0.29 0.291 0.319289 0.2654 0.4355 0.196 0.1929 0.5133 0.28 0.42 0.19 0.22 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.235052 2.235052 NA 0.280955 0.206647 NA 0.399 NA 3.453645 1307 1 179304892 179304892 T C intronic SOAT1 NA NA NA intronic ENSG00000057252 NA NA NA NA NA 1q25.2 NA NA NA NA rs1034269 0.6 0.6 0.579 0.586661 0.5467 0.8423 0.7017 0.3502 0.6022 0.53 0.85 0.65 0.39 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094275 NA NA NA NA NA 0.536 NA 3.4533 1307 1 205312280 205312280 C G intronic KLHDC8A NA NA NA intronic ENSG00000162873 NA NA NA NA NA 1q32.1 NA NA NA NA rs7549293 0.6 0.6 0.609 0.624002 0.5467 0.6448 0.562 0.6369 0.7086 0.56 0.67 0.54 0.61 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061873 NA NA NA NA NA 0.638 NA 3.4533 1307 2 60962303 60962303 T C intergenic BCL11A,PAPOLG dist=181670;dist=21062 NA NA ncRNA_exonic ENSG00000271707 NA NA NA NA NA 2p16.1 NA NA NA NA rs3796067 0.39 0.39 0.385 0.354034 0.5467 0.1448 0.3977 0.3835 0.3006 0.53 0.15 0.47 0.39 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.366741 2.366741 NA NA NA NA 0.471 NA 3.4533 1307 2 60962589 60962589 T C intergenic BCL11A,PAPOLG dist=181956;dist=20776 NA NA ncRNA_exonic ENSG00000271707 NA NA NA NA NA 2p16.1 NA NA NA NA rs11692811 0.39 0.39 0.382 0.350639 0.5467 0.1448 0.3977 0.3707 0.3006 0.53 0.15 0.47 0.37 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145883 NA NA NA NA NA 0.449 NA 3.4533 1307 2 230231889 230231889 A T intronic DNER NA NA NA intronic ENSG00000187957 NA NA NA NA NA 2q36.3 NA NA NA NA rs2302769 0.54 0.54 0.549 0.546126 0.5467 0.4008 0.5245 0.7746 0.4018 0.53 0.39 0.53 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048032 NA NA NA NA NA 0.58 NA 3.4533 1307 3 97916064 97916064 A G intergenic OR5H15,OR5H6 dist=27579;dist=67065 NA NA ncRNA_exonic ENSG00000249321 NA NA NA NA NA 3q11.2 NA NA NA NA rs11706390 0.59 0.59 0.591 0.601837 0.5467 0.494 0.5072 0.8086 0.5573 0.54 0.55 0.46 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311351 NA NA NA NA NA 0.536 NA 3.4533 1307 3 97916375 97916375 A G intergenic OR5H15,OR5H6 dist=27890;dist=66754 NA NA ncRNA_exonic ENSG00000249321 NA NA NA NA NA 3q11.2 NA NA NA NA rs6765598 0.58 0.58 0.595 0.591054 0.5467 0.494 0.5029 0.77 0.5573 0.55 0.56 0.48 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874761 NA NA NA NA NA 0.486 NA 3.4533 1307 3 97926354 97926354 A G intergenic OR5H15,OR5H6 dist=37869;dist=56775 NA NA ncRNA_exonic ENSG00000249975 NA NA NA NA NA 3q11.2 NA NA NA NA rs9837299 NA NA 0.564 0.618011 0.5467 0.495 0.5173 0.8623 0.5593 NA NA NA NA NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.407206 NA NA NA NA NA 0.543 NA 3.4533 1307 3 156249407 156249407 G C intronic KCNAB1 NA NA NA intronic ENSG00000169282 NA NA NA NA NA 3q25.31 NA NA NA NA rs2280030 0.57 0.57 0.54 0.539137 0.5467 0.5982 0.6023 0.503 0.4744 0.55 0.64 0.6 0.48 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415597 NA NA NA NA NA 0.543 NA 3.4533 1307 9 90320954 90320954 G A intronic DAPK1 NA NA NA intronic ENSG00000196730 NA NA NA NA NA 9q21.33 NA NA NA NA rs1927973 0.61 0.61 0.608 0.617612 0.5467 0.5446 0.6254 0.7504 0.5808 0.55 0.54 0.64 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850284 NA NA NA NA NA 0.652 NA 3.4533 1307 10 106907320 106907320 A G intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs791124 0.49 0.49 0.476 0.489018 0.5467 0.3492 0.6268 0.4803 0.4877 0.54 0.32 0.64 0.52 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705977 NA NA NA NA NA 0.355 NA 3.4533 1307 16 2110571 2110571 C G intronic TSC2 NA NA NA intronic ENSG00000103197 NA NA NA NA NA 16p13.3 NA NA NA NA rs2074968 0.54 0.54 0.533 0.557508 0.5467 0.7143 0.4986 0.3979 0.6646 0.55 0.72 0.47 0.36 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67981 NA NA NA NA NA 0.514 NA 3.4533 1307 17 80352138 80352138 T C intronic OGFOD3 NA NA NA intronic ENSG00000181396 NA NA NA NA NA 17q25.3 NA NA NA NA rs6502106 0.5 0.5 0.415 0.555711 0.5467 0.3631 0.6585 0.5272 0.729 0.55 0.35 0.62 0.53 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760778 NA NA NA NA NA 0.507 NA 3.4533 1307 21 42813011 42813011 G A intronic MX1 NA NA NA intronic ENSG00000157601 NA NA NA NA NA 21q22.3 NA NA NA NA rs1788352 0.35 0.35 0.165 0.341254 0.5467 0.1052 0.4236 0.3094 0.3579 0.54 0.08 0.44 0.3 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410993 NA NA NA NA NA 0.094 NA 3.4533 1307 19 37726433 37726433 G A intronic ZNF383 NA NA NA intronic ENSG00000188283 NA NA NA NA NA 19q13.12 NA NA NA NA rs320880 0.21 0.21 0.195 0.235024 0.1839 0.2321 0.1484 0.2648 0.3119 0.18 0.26 0.16 0.23 0.1935 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826379 NA NA 0.169302 0.241035 NA 0.304 NA 3.453298 1307 11 102565856 102565856 A T intronic MMP27 NA NA NA intronic ENSG00000137675 NA NA NA NA NA 11q22.2 NA NA NA NA rs10895351 0.12 0.12 0.12 0.109425 0.1819 0.1071 0.1873 0.0083 0.1186 0.2 0.11 0.15 0.01 0.1693 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504967 NA NA 0.195511 0.038357 NA 0.029 NA 3.453289 1307 19 58989424 58989424 C T intronic ZNF446 NA NA NA intronic ENSG00000083838 NA NA NA NA NA 19q13.43 NA NA NA NA rs731259 0.13 0.13 0.141 0.131789 0.2117 0.0556 0.1614 0.087 0.1677 0.2 0.06 0.17 0.1 0.1621 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064199 NA NA 0.173023 0.097367 NA 0.145 NA 3.453177 1307 1 248084222 248084222 T C upstream OR2T8 NA NA NA upstream ENSG00000177462 NA NA NA NA NA 1q44 NA NA NA NA rs12048237 0.4 0.4 0.422 0.439696 0.2137 0.5526 0.2925 0.559 0.499 0.22 0.57 0.29 0.54 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317604 1.317604 NA NA NA NA 0.377 NA 3.4529666 1307 7 44113656 44113656 T C intronic POLM NA NA NA UTR3 ENSG00000122678 ENST00000458246:c.*799A>G NA NA NA NA 7p13 NA NA NA NA rs3218661 0.25 0.25 0.211 0.262181 0.2336 0.1141 0.2767 0.4327 0.2035 0.24 0.12 0.29 0.4 0.254 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25012 NA NA 0.226163 0.408761 NA 0.21 NA 3.4529037 1307 20 25257260 25257260 G C intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2257370 0.2 0.2 0.184 0.17492 0.1879 0.3552 0.1398 0.0658 0.1483 0.19 0.35 0.17 0.08 0.1738 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25841 NA NA 0.185741 0.086246 NA 0.094 NA 3.452559 1307 2 60962423 60962423 T C intergenic BCL11A,PAPOLG dist=181790;dist=20942 NA NA ncRNA_exonic ENSG00000271707 NA NA NA NA NA 2p16.1 NA NA NA NA rs12713426 0.39 0.39 0.385 0.354233 0.5477 0.1448 0.3977 0.3835 0.3006 0.53 0.15 0.47 0.39 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.061414 NA NA NA NA NA 0.464 NA 3.4523 1307 3 97916391 97916391 A C intergenic OR5H15,OR5H6 dist=27906;dist=66738 NA NA ncRNA_exonic ENSG00000249321 NA NA NA NA NA 3q11.2 NA NA NA NA rs6765605 0.59 0.59 0.581 0.592652 0.5477 0.494 0.5058 0.7738 0.5573 0.55 0.56 0.48 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91605 NA NA NA NA NA 0.486 NA 3.4523 1307 6 29149561 29149561 G A intergenic OR2J2,OR14J1 dist=7210;dist=124906 NA NA ncRNA_exonic ENSG00000224233 NA NA NA NA NA 6p22.1 NA NA NA NA rs3116817 0.4 0.4 0.366 0.378195 0.5477 0.378 0.451 0.112 0.5123 0.58 0.37 0.46 0.12 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.277551 NA NA NA NA NA 0.341 NA 3.4523 1307 6 29149632 29149632 T G intergenic OR2J2,OR14J1 dist=7281;dist=124835 NA NA ncRNA_exonic ENSG00000224233 NA NA NA NA NA 6p22.1 NA NA NA NA rs3129168 NA NA 0.321 0.378195 0.5477 0.378 0.451 0.112 0.5123 NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408479 NA NA NA NA NA 0.333 NA 3.4523 1307 6 29149645 29149645 C T intergenic OR2J2,OR14J1 dist=7294;dist=124822 NA NA ncRNA_exonic ENSG00000224233 NA NA NA NA NA 6p22.1 NA NA NA NA rs3116819 0.37 0.37 0.283 0.378195 0.5477 0.378 0.451 0.112 0.5123 0.54 0.33 0.44 0.09 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815806 NA NA NA NA NA 0.341 NA 3.4523 1307 9 33649383 33649383 C A intergenic ANXA2P2,PTENP1 dist=23851;dist=24119 NA NA ncRNA_exonic ENSG00000215206 NA NA NA NA NA 9p13.3 NA NA NA NA rs855547 0.43 0.43 0.46 0.488019 0.5477 0.3433 0.4236 0.5961 0.4755 0.48 0.27 0.4 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123623 NA 1 NA NA ID=COSN168514;OCCURENCE=1(large_intestine) 0.594 NA 3.4523 1307 9 139092679 139092679 T C intronic LHX3 NA NA NA intronic ENSG00000107187 NA NA NA NA NA 9q34.3 NA NA NA NA rs4842131 0.5 0.5 0.505 0.512181 0.5477 0.3938 0.4294 0.6036 0.5327 0.54 0.42 0.45 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575697 NA NA NA NA NA 0.42 NA 3.4523 1307 11 5573160 5573160 G C intergenic OR52H1,OR52B6 dist=6407;dist=28947 NA NA ncRNA_exonic ENSG00000248553 NA NA NA NA NA 11p15.4 NA NA NA NA rs401835 0.7 0.7 0.697 0.726837 0.5477 0.9147 0.6988 0.6944 0.7812 0.55 0.91 0.66 0.72 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.115072 NA NA NA NA NA 0.667 NA 3.4523 1307 15 99492045 99492045 G A intronic IGF1R NA NA NA intronic ENSG00000140443 NA NA NA NA NA 15q26.3 NA NA NA NA rs2684789 0.59 0.59 0.584 0.604433 0.5477 0.6627 0.5692 0.5212 0.7403 0.56 0.68 0.59 0.55 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048805 NA NA NA NA NA 0.645 NA 3.4523 1307 5 98236831 98236831 T C intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q21.1 NA NA NA NA rs7702352 0.18 0.18 0.166 0.179912 0.1789 0.1954 0.1772 0.1339 0.229 0.18 0.2 0.22 0.14 0.1864 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.344533 NA NA 0.182442 0.144349 NA 0.188 NA 3.452258 1307 5 132228133 132228133 A G intronic AFF4 NA NA NA intronic ENSG00000072364 NA NA NA NA NA 5q31.1 NA NA NA NA rs11739417 0.19 0.19 0.185 0.171925 0.1759 0.1429 0.1398 0.2882 0.0634 0.17 0.14 0.17 0.29 0.1684 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790414 NA NA 0.203536 0.283833 NA 0.217 NA 3.452164 1307 15 28356859 28356859 C T UTR3 HERC2 NM_004667:c.*50G>A NA NA UTR3 ENSG00000128731 ENST00000261609:c.*50G>A NA NA NA Name=Vitiligo 15q13.1 NA NA NA NA rs1129038 0.29 0.29 0.277 0.176917 0.6352 0.001 0.2032 0.028 0.0695 0.71 0.0017 0.22 0.04 0.5073 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657638 NA NA 0.738837 0.141625 NA 0.312 NA 3.4519964 1307 1 200958111 200958111 A C intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs12143520 0.26 0.26 0.257 0.263978 0.1541 0.2986 0.2032 0.4531 0.1288 0.16 0.32 0.17 0.41 0.2139 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008773 NA NA 0.180165 0.422381 NA 0.232 NA 3.451835 1307 17 8064779 8064779 C G intronic VAMP2 NA NA NA UTR3 ENSG00000220205 ENST00000404970:c.*4G>C,ENST00000481878:c.*4G>C NA NA NA NA 17p13.1 NA NA NA NA rs75664430 0.15 0.15 0.152 0.140974 0.2475 0.0317 0.1499 0.1415 0.137 0.25 0.03 0.18 0.12 0.201 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.542091 NA NA 0.266512 0.162733 NA 0.123 NA 3.4516547 1307 2 202571562 202571562 C T intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA NA NA 2q33.1 NA NA NA NA rs3219169 0.24 0.24 0.236 0.265375 0.1879 0.3869 0.1153 0.2035 0.41 0.21 0.38 0.09 0.22 0.2091 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48943 NA NA 0.151356 0.187974 NA 0.21 NA 3.451644 1307 12 116420448 116420448 T C intronic MED13L NA NA NA intronic ENSG00000123066 NA NA NA NA NA 12q24.21 NA NA NA NA rs56159580 0.14 0.14 0.133 0.148962 0.1879 0.1746 0.1268 0.0522 0.229 0.17 0.17 0.14 0.09 0.1831 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88698 NA NA 0.177674 0.074671 NA 0.145 NA 3.451326 1307 2 60962118 60962118 T C intergenic BCL11A,PAPOLG dist=181485;dist=21247 NA NA ncRNA_exonic ENSG00000271707 NA NA NA NA NA 2p16.1 NA NA NA NA rs3796068 0.39 0.39 0.379 0.355032 0.5487 0.1448 0.3977 0.3858 0.3006 0.53 0.15 0.47 0.39 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489448 NA NA NA NA NA 0.471 NA 3.4513 1307 5 169361 169361 C T intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA NA NA NA rs13159868 0.38 0.38 0.374 0.398962 0.5487 0.2798 0.4265 0.233 0.5726 0.54 0.28 0.44 0.22 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935803 NA NA NA NA NA 0.471 NA 3.4513 1307 5 179991841 179991841 A G intronic CNOT6 NA NA NA intronic ENSG00000113300 NA NA NA NA NA 5q35.3 NA NA NA NA rs6874985 0.39 0.39 0.388 0.367412 0.5487 0.2163 0.3963 0.2912 0.4192 0.54 0.21 0.44 0.33 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196777 NA NA NA NA NA 0.428 NA 3.4513 1307 7 78256342 78256342 C T intronic MAGI2 NA NA NA intronic ENSG00000187391 NA NA NA NA NA 7q21.11 NA NA NA NA rs38116 0.42 0.42 0.419 0.439097 0.5487 0.2331 0.5144 0.3336 0.6278 0.55 0.23 0.53 0.34 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825033 NA NA NA NA NA 0.457 NA 3.4513 1307 19 55207769 55207769 T C intergenic LILRB4,LILRP2 dist=27923;dist=11832 NA NA upstream ENSG00000186152 NA NA NA NA NA 19q13.42 NA NA NA NA rs114126601 0.03 0.03 0.022 0.0279553 0.0487 0.001 0.0533 0.0363 0.0051 0.05 NA 0.06 0.04 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084211 NA NA NA NA NA 0.022 NA 3.4513 1307 1 54375570 54375570 C A intronic DIO1 NA NA NA intronic ENSG00000211452 NA NA NA NA Name=Thyroid hormone levels,Multiple myeloma (hyperdiploidy) 1p32.3 NA NA NA NA rs2235544 0.45 0.45 0.39 0.460264 0.5249 0.4613 0.6412 0.1626 0.6667 0.53 0.45 0.62 0.18 0.5206 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67419 NA NA 0.503372 0.263277 NA 0.464 NA 3.451128 1307 12 113724945 113724945 A G intronic TPCN1 NA NA NA intronic ENSG00000186815 NA NA NA NA NA 12q24.13 NA NA NA NA rs2241544 0.22 0.22 0.208 0.214058 0.1899 0.2282 0.134 0.2958 0.1708 0.19 0.26 0.15 0.26 0.1864 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357301 NA NA 0.172791 0.264412 NA 0.319 NA 3.450909 1307 20 36624756 36624756 C A intronic TTI1 NA NA NA intronic ENSG00000101407 NA NA NA NA NA 20q11.23 NA NA NA NA rs2273349 0.15 0.15 0.133 0.17492 0.1938 0.2163 0.1009 0.0764 0.2986 0.2 0.17 0.11 0.09 0.1736 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.737659 NA NA 0.181744 0.093055 NA 0.065 NA 3.450856 1307 19 15791132 15791132 T A intronic CYP4F12 NA NA NA intronic ENSG00000186204 NA NA NA NA NA 19p13.12 NA NA NA NA rs2074568 0.18 0.18 0.167 0.192093 0.165 0.1329 0.1729 0.2292 0.2444 0.17 0.15 0.15 0.23 0.2003 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355591 NA 0 0.184039 0.22 NA 0.196 NA 3.450661 1307 2 217123958 217123958 T C UTR3 MARCH4 NM_020814:c.*77A>G NA NA UTR3 ENSG00000144583 ENST00000273067:c.*77A>G NA NA NA NA 2q35 NA NA NA NA rs169616 0.75 0.75 0.759 0.775958 0.8827 0.5159 0.7089 0.8691 0.8558 0.89 0.51 0.72 0.86 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356059 NA NA NA NA NA 0.826 NA 3.4506334 1307 15 50731390 50731390 C T intronic USP8 NA NA NA intronic ENSG00000138592 NA NA NA NA NA 15q21.2 NA NA NA NA rs11632708 0.12 0.12 0.104 0.133586 0.1839 0.002 0.2507 0.0847 0.2004 0.17 NA 0.25 0.09 0.1839 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.178971 3.178971 NA 0.181882 0.098588 NA 0.145 NA 3.450318 1307 2 141571440 141571440 C G intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs17575847 0.47 0.47 0.466 0.431709 0.5497 0.6577 0.4092 0.1589 0.4622 0.55 0.66 0.43 0.17 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.380887 NA NA NA NA NA 0.42 NA 3.4503 1307 7 130147307 130147307 T G intronic COPG2 NA NA NA intronic ENSG00000158623 NA NA NA NA NA 7q32.2 NA NA NA NA rs2302826 0.49 0.49 0.437 0.448682 0.5497 0.6121 0.536 0.1573 0.5082 0.54 0.63 0.53 0.21 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753122 NA NA NA NA NA 0.449 NA 3.4503 1307 8 73993200 73993200 T G intronic SBSPON NA NA NA intronic ENSG00000164764 NA NA NA NA NA 8q21.11 NA NA NA NA rs10087744 0.46 0.46 0.462 0.446086 0.5497 0.2034 0.585 0.5605 0.3364 0.53 0.21 0.56 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207859 NA NA NA NA NA 0.457 NA 3.4503 1307 9 139089717 139089717 T G intronic LHX3 NA NA NA intronic ENSG00000107187 NA NA NA NA NA 9q34.3 NA NA NA NA rs7850466 0.45 0.45 0.465 0.48123 0.5497 0.3333 0.4092 0.5976 0.4571 0.51 0.33 0.41 0.5 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522932 NA NA NA NA NA NA NA 3.4503 1307 9 139089718 139089718 A C intronic LHX3 NA NA NA intronic ENSG00000107187 NA NA NA NA NA 9q34.3 NA NA NA NA rs7847312 0.44 0.44 0.45 0.48143 0.5497 0.3333 0.4107 0.5976 0.4571 0.51 0.33 0.4 0.5 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498429 NA NA NA NA NA NA NA 3.4503 1307 14 93303854 93303854 T C intronic GOLGA5 NA NA NA intronic ENSG00000066455 NA NA NA NA NA 14q32.12 NA NA NA NA rs74598769 NA NA NA 0.655551 0.5497 0.6706 0.634 0.68 0.7311 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488364 NA NA NA NA NA NA NA 3.4503 1307 17 18541868 18541868 A G intronic TBC1D28 NA NA NA intronic ENSG00000189375 NA NA NA NA NA 17p11.2 NA NA NA NA rs55807264 0.71 0.71 0.574 0.709864 0.5497 0.9583 0.6455 0.7103 0.6636 0.54 0.96 0.65 0.7 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647854 NA NA NA NA NA 0.529 NA 3.4503 1307 18 28908090 28908090 G A intronic DSG1 NA NA NA intronic ENSG00000134760 NA NA NA NA NA 18q12.1 NA NA NA NA rs2303465 0.38 0.38 0.37 0.410743 0.5497 0.1012 0.3516 0.4062 0.635 0.55 0.1 0.41 0.4 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950857 NA NA NA NA NA 0.464 NA 3.4503 1307 19 2138507 2138507 A G intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs12460763 0.53 0.53 0.536 0.473642 0.5497 0.4722 0.4452 0.4985 0.3834 0.55 0.53 0.46 0.53 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227443 NA NA NA NA NA 0.464 NA 3.4503 1307 20 47839653 47839653 C T intronic DDX27 NA NA NA intronic ENSG00000124228 NA NA NA NA NA 20q13.13 NA NA NA NA rs2273146 0.42 0.42 0.377 0.385982 0.5497 0.4127 0.428 0.1815 0.4366 0.54 0.39 0.46 0.25 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891405 NA NA NA NA NA 0.384 NA 3.4503 1307 6 70979324 70979324 A G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs6935778 0.12 0.12 0.11 0.0898562 0.1978 0.002 0.1066 0.0938 0.0521 0.21 0.0017 0.12 0.11 0.1524 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.728011 3.728011 NA 0.199581 0.098774 NA 0.203 NA 3.450219 1307 11 132177563 132177563 C T intronic NTM NA NA NA intronic ENSG00000182667 NA NA NA NA NA 11q25 NA NA NA NA rs2305272 0.2 0.2 0.184 0.192093 0.1839 0.37 0.2651 0.034 0.1789 0.19 0.31 0.24 0.04 0.1831 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084473 NA NA 0.182802 0.064289 NA 0.196 NA 3.450198 1307 1 1900332 1900332 A G intronic KIAA1751 NA NA NA intergenic ENSG00000142609,ENSG00000142609 dist=2367;dist=19069 NA NA NA NA 1p36.33 NA NA NA NA rs55709963 0.21 0.21 0.166 0.174521 0.2167 0.2728 0.1744 0.1293 0.091 0.21 0.3 0.19 0.12 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000339 NA NA NA NA NA 0.203 NA 3.4499667 1307 10 13782605 13782605 G A intronic FRMD4A NA NA NA ncRNA_intronic ENSG00000234091 NA NA NA NA NA 10p13 NA NA Name=11 NA rs6602679 0.75 0.75 0.753 0.771965 0.6133 0.9573 0.7118 0.7852 0.7689 0.61 0.96 0.68 0.77 0.6745 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.017333 NA NA 0.595698 0.757149 NA 0.616 NA 3.4498353 1307 3 42788914 42788914 G C intronic CCDC13 NA NA NA intronic ENSG00000244607 NA NA NA NA NA 3p22.1 NA NA NA NA rs12490743 0.17 0.17 0.179 0.170128 0.1859 0.1081 0.1729 0.1422 0.2536 0.19 0.12 0.19 0.17 0.1831 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290938 NA NA 0.181279 0.149342 NA 0.167 NA 3.449721 1307 5 42800808 42800808 C T UTR3 CCDC152,SEPP1 NM_001134848:c.*925C>T;NM_001085486:c.*14G>A,NM_001093726:c.*14G>A,NM_005410:c.*14G>A NA NA UTR3 ENSG00000198865,ENSG00000250722 ENST00000361970:c.*925C>T;ENST00000514985:c.*14G>A,ENST00000511224:c.*14G>A,ENST00000506577:c.*14G>A NA NA NA NA 5p12 NA NA NA NA rs7579 0.27 0.27 0.255 0.243011 0.2903 0.2728 0.3862 0.1248 0.2219 0.3 0.28 0.36 0.14 0.3061 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.970753 NA NA 0.28739 0.144651 NA 0.225 NA 3.4495434 1307 3 184020905 184020905 A G intronic PSMD2 NA NA NA intronic ENSG00000145191,ENSG00000175166 NA NA NA NA NA 3q27.1 NA NA NA NA rs2272473 0.42 0.42 0.425 0.416933 0.2724 0.376 0.5101 0.6407 0.2393 0.27 0.43 0.45 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179006 NA NA 0.278127 0.581647 NA 0.471 NA 3.449473 1307 8 129021262 129021262 C T ncRNA_intronic PVT1 NA NA NA ncRNA_intronic ENSG00000249859 NA NA NA NA NA 8q24.21 NA NA NA NA rs2392823 0.72 0.72 0.725 0.688299 0.6233 0.6944 0.7248 0.8238 0.5399 0.63 0.73 0.71 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.02814 NA NA 0.593966 0.771676 NA 0.623 NA 3.4494006 1307 3 97957115 97957115 T C intergenic OR5H15,OR5H6 dist=68630;dist=26014 NA NA ncRNA_intronic ENSG00000251088 NA NA NA NA NA 3q11.2 NA NA NA NA rs13100993 0.62 0.62 0.669 0.624601 0.5507 0.4931 0.5159 0.8865 0.5593 0.55 0.56 0.49 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911541 NA NA NA NA NA 0.565 NA 3.4493 1307 3 97957539 97957539 C T intergenic OR5H15,OR5H6 dist=69054;dist=25590 NA NA ncRNA_exonic ENSG00000187900 NA NA NA NA NA 3q11.2 NA NA NA NA rs6439725 0.62 0.62 0.638 0.627995 0.5507 0.4931 0.5173 0.8986 0.5593 0.55 0.56 0.49 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911477 NA 1 NA NA NA 0.565 NA 3.4493 1307 15 72896802 72896802 C T intergenic MIR630,GOLGA6B dist=17148;dist=50236 NA NA upstream ENSG00000260144 NA NA NA NA NA 15q24.1 NA NA NA NA rs16957189 0.12 0.12 0.103 0.13139 0.0507 0.002 0.147 0.3646 0.0215 0.03 0.0035 0.13 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467225 NA NA NA NA NA 0.13 NA 3.4493 1307 16 52502318 52502318 A G intronic TOX3 NA NA NA intronic ENSG00000103460 NA NA NA NA NA 16q12.1 NA NA NA NA rs2287144 0.59 0.59 0.581 0.615016 0.5507 0.7907 0.5634 0.4985 0.6943 0.55 0.77 0.58 0.46 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166239 NA NA NA NA NA 0.478 NA 3.4493 1307 16 52502571 52502571 A C intronic TOX3 NA NA NA intronic ENSG00000103460 NA NA NA NA NA 16q12.1 NA NA NA NA rs9928698 0.59 0.59 0.577 0.616014 0.5507 0.7907 0.5648 0.4985 0.6984 0.55 0.77 0.58 0.46 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900729 NA NA NA NA NA 0.507 NA 3.4493 1307 21 42749189 42749189 A G intronic MX2 NA NA NA intronic ENSG00000183486 NA NA NA NA NA 21q22.3 NA NA NA NA rs379839 0.57 0.57 0.585 0.59405 0.5507 0.4187 0.3948 0.9357 0.499 0.54 0.39 0.44 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023482 NA NA NA NA NA 0.703 NA 3.4493 1307 2 29240005 29240005 T C intronic FAM179A NA NA NA intronic ENSG00000189350 NA NA NA Score=549;Name=lod=227 NA 2p23.2 NA NA NA NA rs13409097 0.41 0.41 0.379 0.38738 0.5109 0.5139 0.5245 0.0628 0.4714 0.49 0.52 0.54 0.08 0.4953 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.505836 3.505836 NA 0.544823 0.145719 NA 0.384 NA 3.448977 1307 19 985815 985815 T G intronic WDR18 NA NA NA intronic ENSG00000065268 NA NA NA NA NA 19p13.3 NA Name=USF-1 NA NA rs2074573 0.42 0.42 0.39 0.399561 0.5577 0.2788 0.4207 0.4418 0.2894 0.55 0.24 0.41 0.42 0.4634 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105455 NA NA 0.53 0.439174 NA 0.355 NA 3.4489 1307 20 30451844 30451844 C T intronic DUSP15 NA NA NA intronic ENSG00000149599 NA NA NA NA NA 20q11.21 NA NA NA NA rs6087786 0.2 0.2 0.201 0.176917 0.2982 0.002 0.196 0.298 0.0552 0.3 0.0035 0.23 0.28 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922467 NA NA 0.252986 0.271676 NA 0.203 NA 3.448814 1307 11 74880856 74880856 C A intronic SLCO2B1 NA NA NA UTR3 ENSG00000137491 ENST00000526839:c.*12C>A NA NA NA NA 11q13.4 NA NA NA NA rs7125268 0.32 0.32 0.322 0.357428 0.2117 0.3105 0.4611 0.4516 0.3548 0.19 0.34 0.4 0.43 0.2901 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674711 NA NA 0.216166 0.401591 NA 0.297 NA 3.4487007 1307 6 168458074 168458074 G A intronic FRMD1 NA NA NA intronic ENSG00000153303 NA NA NA NA NA 6q27 NA NA NA NA rs3734900 0.45 0.45 0.437 0.45627 0.5517 0.5337 0.4308 0.1513 0.7086 0.57 0.52 0.46 0.19 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838755 NA NA NA NA NA 0.449 NA 3.4483 1307 7 6754356 6754356 A G intergenic ZNF12,PMS2CL dist=7790;dist=20580 NA NA ncRNA_intronic ENSG00000187953 NA NA NA NA NA 7p22.1 NA NA NA NA rs6947883 0.73 0.73 0.765 0.814896 0.5517 0.876 0.683 0.9811 0.8916 0.55 0.84 0.63 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669876 NA NA NA NA NA 0.659 NA 3.4483 1307 8 28707570 28707570 C T intronic INTS9 NA NA NA intronic ENSG00000104299 NA NA NA NA NA 8p21.1 NA NA NA NA rs4732887 0.42 0.42 0.375 0.374002 0.5517 0.2589 0.5692 0.1952 0.4131 0.55 0.28 0.58 0.27 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279455 NA NA NA NA NA 0.348 NA 3.4483 1307 12 12790737 12790737 G A intronic CREBL2 NA NA NA intronic ENSG00000111269 NA NA NA NA NA 12p13.2 NA NA NA NA rs10845599 0.41 0.41 0.374 0.359625 0.5517 0.4216 0.3184 0.1505 0.41 0.57 0.42 0.36 0.18 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324329 NA NA NA NA NA 0.442 NA 3.4483 1307 16 1817431 1817431 C T intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2575369 0.38 0.38 0.329 0.317292 0.5517 0.2629 0.4712 0.1233 0.2853 0.56 0.24 0.51 0.16 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372542 NA NA NA NA NA 0.348 NA 3.4483 1307 16 56401294 56401294 T C intronic AMFR NA NA NA intronic ENSG00000159461 NA NA NA NA NA 16q12.2 NA NA NA NA rs2241957 0.65 0.65 0.69 0.712061 0.5517 0.6091 0.5692 0.9455 0.7689 0.56 0.6 0.56 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267068 NA NA NA NA NA 0.754 NA 3.4483 1307 19 51518297 51518297 A G intronic KLK10 NA NA NA intronic ENSG00000129451 NA NA NA NA NA 19q13.41 NA NA NA NA rs2075695 0.63 0.63 0.613 0.620807 0.5517 0.5397 0.6254 0.9289 0.3558 0.56 0.51 0.62 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713645 NA NA NA NA NA 0.725 NA 3.4483 1307 7 105146359 105146359 C G intronic PUS7 NA NA NA intronic ENSG00000091127 NA NA NA NA NA 7q22.3 NA NA NA NA rs818471 0.25 0.25 0.254 0.259984 0.1819 0.1716 0.2233 0.4425 0.2106 0.19 0.16 0.22 0.44 0.2053 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486344 NA NA 0.164844 0.398274 NA 0.246 NA 3.447956 1307 21 46074202 46074202 A G exonic KRTAP12-4 NA synonymous SNV KRTAP12-4:NM_198698:exon1:c.T330C:p.T110T exonic ENSG00000212933 NA synonymous SNV ENSG00000212933:ENST00000391618:exon1:c.T330C:p.T110T NA NA 21q22.3 NA NA NA NA rs9984726 0.76 0.76 0.737 0.785144 0.7624 0.6458 0.7493 0.9191 0.7965 0.76 0.62 0.77 0.92 0.7453 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.375121 NA NA 0.711446 0.895025 NA 0.616 NA 3.4475206 1307 1 20991273 20991273 G A intronic KIF17 NA NA NA intronic ENSG00000117245 NA NA NA NA NA 1p36.12 NA NA NA NA rs56070322 0.13 0.13 0.111 0.126198 0.1879 0.127 0.1556 0.0522 0.1411 0.17 0.12 0.18 0.05 0.1712 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357101 NA NA 0.193488 0.064004 NA 0.203 NA 3.447412 1307 4 2176506 2176506 C T intronic POLN NA NA NA intronic ENSG00000130997 NA NA NA NA NA 4p16.3 NA NA NA NA rs6822665 0.39 0.39 0.414 0.409944 0.159 0.373 0.2709 0.8487 0.2117 0.16 0.37 0.27 0.85 0.2419 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674544 NA NA 0.151744 0.745347 NA 0.449 NA 3.447356 1307 11 124109169 124109169 C G intergenic OR8G2,OR8G1 dist=12857;dist=11254 NA NA ncRNA_exonic ENSG00000254845 NA NA NA NA NA 11q24.2 NA NA NA NA rs2466657 0.5 0.5 0.453 0.444688 0.5527 0.5833 0.5591 0.3154 0.2843 0.54 0.59 0.54 0.31 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0334 NA NA NA NA NA 0.297 NA 3.4473 1307 15 50087964 50087964 C A intergenic DTWD1,ATP8B4 dist=150631;dist=62471 NA NA ncRNA_exonic ENSG00000259388 NA NA NA NA NA 15q21.2 NA NA NA NA rs521695 0.53 0.53 0.539 0.503594 0.5527 0.4643 0.4841 0.5825 0.4008 0.55 0.46 0.48 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.053917 NA NA NA NA NA 0.42 NA 3.4473 1307 19 51430868 51430868 G A intergenic KLK4,KLK5 dist=16874;dist=15691 NA NA upstream ENSG00000228674 NA NA NA NA NA 19q13.41 NA NA NA NA rs59881416 0.05 0.05 0.033 0.0409345 0.0527 NA 0.0447 0.0787 0.0174 0.06 NA 0.06 0.08 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16655 NA NA NA NA NA 0.022 NA 3.4473 1307 1 54706733 54706733 A G intronic SSBP3 NA NA NA intronic ENSG00000157216 NA NA NA NA NA 1p32.3 NA NA NA NA rs2297027 0.59 0.59 0.555 0.659545 0.5527 0.4355 0.6643 0.8139 0.7883 0.56 0.44 0.61 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305073 NA NA NA NA NA 0.464 NA 3.4473 1307 6 44270365 44270365 C G intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA NA NA NA rs325004 0.45 0.45 0.409 0.426717 0.5527 0.4157 0.6066 0.2088 0.4755 0.55 0.44 0.62 0.19 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050253 NA NA NA NA NA 0.442 NA 3.4473 1307 7 27566053 27566053 G C intronic HIBADH NA NA NA intronic ENSG00000106049 NA NA NA NA NA 7p15.2 NA NA NA NA rs12700813 0.75 0.75 0.777 0.766573 0.5527 0.9583 0.6412 0.9062 0.6892 0.56 0.95 0.61 0.91 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.561236 1.561236 NA NA NA NA 0.688 NA 3.4473 1307 8 10692359 10692359 C T intronic PINX1 NA NA NA intronic ENSG00000171056,ENSG00000254093,ENSG00000258724 NA NA NA NA NA 8p23.1 NA NA NA NA rs1549796 0.5 0.5 NA 0.512181 0.5527 0.2212 0.4107 0.7806 0.4796 0.55 0.2 0.48 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168141 NA NA NA NA NA 0.594 NA 3.4473 1307 9 137688427 137688427 T G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs3811162 0.69 0.69 0.727 0.702875 0.5527 0.8274 0.5562 0.8707 0.6063 0.56 0.82 0.57 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169062 NA NA NA NA NA 0.732 NA 3.4473 1307 13 26436641 26436641 C T intronic ATP8A2 NA NA NA intronic ENSG00000132932 NA NA NA NA NA 13q12.13 NA NA NA NA rs2249800 0.5 0.5 0.502 0.503195 0.5527 0.5546 0.3963 0.4213 0.5859 0.56 0.53 0.42 0.44 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464019 NA NA NA NA NA 0.464 NA 3.4473 1307 17 4535413 4535413 T C intronic ALOX15 NA NA NA intronic ENSG00000161905 NA NA NA NA NA 17p13.2 NA NA NA NA rs6502804 0.53 0.53 0.52 0.532348 0.5527 0.5129 0.4697 0.5643 0.5327 0.55 0.51 0.48 0.54 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422259 NA NA NA NA NA 0.594 NA 3.4473 1307 1 205031744 205031744 G A intronic CNTN2 NA NA NA intronic ENSG00000184144 NA NA NA NA NA 1q32.1 NA NA NA NA rs2242001 0.23 0.23 0.207 0.232029 0.1759 0.3958 0.2651 0.0946 0.2832 0.18 0.41 0.27 0.09 0.2071 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602972 NA NA 0.169884 0.118929 NA 0.145 NA 3.447116 1307 3 197249693 197249693 C T intronic BDH1 NA NA NA intronic ENSG00000161267 NA NA NA NA NA 3q29 NA NA NA NA rs3828369 0.18 0.18 0.18 0.179712 0.1849 0.1012 0.2161 0.264 0.1155 0.17 0.1 0.21 0.27 0.1806 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539066 NA NA 0.187442 0.235588 NA 0.138 NA 3.447058 1307 8 99057526 99057526 G A intronic RPL30 NA NA NA intronic ENSG00000156482 NA NA NA NA NA 8q22.2 NA Name=Sin3Ak-20,Pol2(b),c-Myc,BCLAF1_(M33-P5B11),Pol2,Max NA NA rs812 0.3 0.3 0.284 0.250599 0.5577 0.0794 0.3242 0.1278 0.2249 0.56 0.06 0.38 0.12 0.4163 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.297383 1.297383 NA 0.578953 0.206083 NA 0.297 NA 3.447047 1307 1 167032796 167032796 C T intronic GPA33 NA NA NA intronic ENSG00000143167 NA NA NA NA NA 1q24.1 NA NA NA NA rs12742013 0.11 0.11 0.115 0.0934505 0.2107 NA 0.1081 0.0764 0.0818 0.21 NA 0.12 0.09 0.1556 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530721 NA NA 0.18686 0.089424 NA 0.094 NA 3.44684 1307 5 132036252 132036252 T C intronic KIF3A NA NA NA ncRNA_intronic ENSG00000230612 NA NA NA NA NA 5q31.1 NA NA NA NA rs1468216 0.87 0.87 0.858 0.845048 0.8867 0.9196 0.8473 0.7595 0.8395 0.89 0.92 0.9 0.75 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.267202 1.267202 NA NA NA NA 0.87 NA 3.4466333 1307 16 56686002 56686002 G C intronic MT1B NA NA NA ncRNA_intronic ENSG00000259923 NA NA NA NA NA 16q12.2 NA NA NA NA rs2070838 0.76 0.76 0.729 0.735423 0.8867 0.7004 0.8775 0.5303 0.7924 0.89 0.71 0.87 0.52 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333521 NA NA NA NA NA 0.746 NA 3.4466333 1307 16 56686005 56686005 T A intronic MT1B NA NA NA ncRNA_intronic ENSG00000259923 NA NA NA NA NA 16q12.2 NA NA NA NA rs4619400 0.76 0.76 0.724 0.735423 0.8867 0.7004 0.8775 0.5303 0.7924 0.89 0.71 0.87 0.52 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129947 NA NA NA NA NA 0.746 NA 3.4466333 1307 16 56686030 56686030 C G intronic MT1B NA NA NA ncRNA_intronic ENSG00000259923 NA NA NA NA NA 16q12.2 NA NA NA NA rs964372 0.76 0.76 0.733 0.735423 0.8867 0.7004 0.8775 0.5303 0.7924 0.89 0.71 0.87 0.52 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543863 NA NA NA NA NA 0.746 NA 3.4466333 1307 17 72769694 72769694 A G intronic NAT9 NA NA NA intronic ENSG00000109065 NA NA NA NA NA 17q25.1 NA Name=Pol2 NA NA rs878907 0.46 0.46 0.419 0.460064 0.5417 0.2897 0.549 0.4796 0.4622 0.54 0.29 0.53 0.49 0.5028 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72216 NA NA 0.508953 0.470268 NA 0.5 NA 3.446547 1307 13 32335840 32335840 A T intronic RXFP2 NA NA NA intronic ENSG00000133105 NA NA NA NA NA 13q13.1 NA NA NA NA rs9532478 0.18 0.18 0.153 0.186302 0.1839 0.2292 0.1744 0.1157 0.2485 0.19 0.24 0.16 0.11 0.1914 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.495371 1.495371 NA 0.178256 0.15547 NA 0.217 NA 3.446444 1307 18 2738580 2738580 C T intronic SMCHD1 NA NA NA ncRNA_intronic ENSG00000266049 NA NA NA NA NA 18p11.32 NA NA NA NA rs8094260 0.35 0.35 0.316 0.387181 0.2634 0.5228 0.4481 0.2716 0.4877 0.27 0.46 0.39 0.3 0.3429 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169278 NA NA 0.280708 0.260518 NA 0.355 NA 3.4463253 1307 4 165850688 165850688 G C intergenic LOC100506013,TRIM61 dist=32012;dist=24910 NA NA ncRNA_exonic ENSG00000221891 NA NA NA NA NA 4q32.3 NA NA NA NA rs5027302 0.58 0.58 0.552 0.607428 0.5537 0.7401 0.6398 0.4826 0.6718 0.54 0.69 0.62 0.46 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139341 NA NA NA NA NA 0.638 NA 3.4463 1307 5 148989312 148989312 A G intronic ARHGEF37 NA NA NA intronic ENSG00000183111 NA NA NA NA NA 5q32 NA NA NA NA rs7443869 0.42 0.42 0.402 0.382388 0.5537 0.3651 0.3343 0.2943 0.3773 0.56 0.38 0.36 0.33 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085598 NA NA NA NA NA 0.5 NA 3.4463 1307 5 148989320 148989320 T C intronic ARHGEF37 NA NA NA intronic ENSG00000183111 NA NA NA NA NA 5q32 NA NA NA NA rs7447560 0.42 0.42 0.39 0.382388 0.5537 0.3651 0.3343 0.2943 0.3773 0.56 0.38 0.36 0.33 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576779 NA NA NA NA NA 0.5 NA 3.4463 1307 9 79259592 79259592 C T intronic PRUNE2 NA NA NA intronic ENSG00000106772 NA NA NA NA NA 9q21.2 NA NA NA NA rs511040 0.59 0.59 0.599 0.620807 0.5537 0.622 0.536 0.6762 0.6738 0.54 0.62 0.54 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633194 NA NA NA NA NA 0.681 NA 3.4463 1307 14 107160069 107160069 A G intergenic LINC00221,NONE dist=208540;dist=NONE NA NA ncRNA_exonic ENSG00000253703 NA NA NA NA NA 14q32.33 NA NA NA NA rs6576212 0.62 0.62 0.63 0.665535 0.5537 0.5119 0.5375 0.907 0.7035 0.55 0.48 0.57 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203838 NA NA NA NA NA NA NA 3.4463 1307 2 10135956 10135956 G A intronic GRHL1 NA NA NA intronic ENSG00000134317 NA NA NA NA NA 2p25.1 NA NA NA NA rs41264205 0.17 0.17 0.165 0.190096 0.1799 0.1409 0.2017 0.2292 0.1902 0.17 0.12 0.2 0.23 0.1862 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491709 NA NA 0.187907 0.246709 ID=COSN166012;OCCURENCE=1(NS) 0.13 NA 3.445993 1307 10 43696086 43696086 C T intronic RASGEF1A NA NA NA intronic ENSG00000198915 NA NA NA NA NA 10q11.21 NA NA NA NA rs1254963 0.23 0.23 0.208 0.233826 0.171 0.5159 0.2118 0.0219 0.3098 0.18 0.5 0.17 0.02 0.2099 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173312 NA NA 0.173301 0.057727 NA 0.138 NA 3.445799 1307 5 43297032 43297032 C T intronic HMGCS1 NA NA NA intronic ENSG00000112972 NA NA NA NA NA 5p12 NA NA NA NA rs3733768 0.47 0.47 0.471 0.478235 0.5547 0.1974 0.5072 0.6377 0.453 0.53 0.22 0.53 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897237 NA NA NA NA ID=COSN167458;OCCURENCE=1(large_intestine),1(endometrium) 0.558 NA 3.4453 1307 10 8019124 8019124 A G intronic TAF3 NA NA NA intronic ENSG00000165632 NA NA NA NA NA 10p14 NA NA NA NA rs10795584 0.48 0.48 0.447 0.478235 0.5547 0.4157 0.621 0.3865 0.4867 0.55 0.42 0.65 0.34 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608811 NA NA NA NA NA 0.558 NA 3.4453 1307 14 107160067 107160067 C T intergenic LINC00221,NONE dist=208538;dist=NONE NA NA ncRNA_exonic ENSG00000253703 NA NA NA NA NA 14q32.33 NA NA NA NA rs6576211 0.62 0.62 0.632 0.665735 0.5547 0.5119 0.5375 0.907 0.7035 0.55 0.48 0.57 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.055329 NA NA NA NA NA NA NA 3.4453 1307 14 107160126 107160126 T C intergenic LINC00221,NONE dist=208597;dist=NONE NA NA ncRNA_exonic ENSG00000253703 NA NA NA NA NA 14q32.33 NA NA NA NA rs8003761 0.62 0.62 0.645 0.665935 0.5547 0.5119 0.5375 0.9077 0.7035 0.55 0.48 0.57 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100008 NA NA NA NA NA 0.732 NA 3.4453 1307 17 79255912 79255912 C T intronic SLC38A10 NA NA NA intronic ENSG00000157637 NA NA NA NA NA 17q25.3 NA NA NA NA rs7213540 0.52 0.52 0.577 0.52476 0.5547 0.3065 0.5014 0.8185 0.3384 0.54 0.28 0.49 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755861 NA NA NA NA NA 0.428 NA 3.4453 1307 21 47417303 47417303 T C intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839077 0.53 0.53 0.464 0.511581 0.5 0.7083 0.6715 0.3321 0.4499 0.48 0.69 0.64 0.32 0.5375 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689541 NA NA 0.517326 0.385837 NA 0.478 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079750.1;CLNDSDB=.;CLNDSDBID=. 3.445174 1308 13 32332556 32332556 C T intronic RXFP2 NA NA NA intronic ENSG00000133105 NA NA NA NA NA 13q13.1 NA NA NA NA rs61946567 0.19 0.19 0.158 0.192292 0.1839 0.2302 0.1758 0.1369 0.2485 0.19 0.24 0.16 0.14 0.193 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070933 NA NA 0.17814 0.171584 NA 0.217 NA 3.44496 1308 2 118753097 118753097 C T intronic CCDC93 NA NA NA intronic ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs17584619 0.09 0.09 0.076 0.0710863 0.1978 0.003 0.1254 0.0053 0.0613 0.19 0.0017 0.14 0.01 0.1551 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757102 NA NA 0.202442 0.035406 NA 0.051 NA 3.444658 1308 19 5786718 5786718 A G intronic DUS3L NA NA NA intronic ENSG00000141994 NA NA NA NA NA 19p13.3 NA NA NA NA rs2305927 0.3 0.3 0.269 0.311701 0.165 0.5437 0.1873 0.3298 0.2873 0.17 0.49 0.21 0.33 0.2397 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70257 NA NA 0.150687 0.295123 NA 0.268 NA 3.444613 1308 10 73579217 73579217 C T intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs11000016 0.17 0.17 0.168 0.163339 0.1968 0.2431 0.1484 0.1089 0.1309 0.19 0.22 0.13 0.12 0.1744 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311347 NA NA 0.184302 0.129823 NA 0.167 NA 3.444498 1308 1 55518166 55518166 G A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs625619 0.58 0.58 0.541 0.549321 0.5557 0.8046 0.7147 0.2738 0.5348 0.54 0.8 0.7 0.29 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754239 NA NA NA NA NA 0.333 NA 3.4443 1308 3 46016599 46016599 T G intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA NA NA NA rs3821884 0.59 0.59 0.569 0.627196 0.5557 0.6647 0.6729 0.5522 0.7311 0.58 0.63 0.65 0.52 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438919 NA NA NA NA NA 0.558 NA 3.4443 1308 14 107160160 107160160 G A intergenic LINC00221,NONE dist=208631;dist=NONE NA NA ncRNA_exonic ENSG00000253703 NA NA NA NA NA 14q32.33 NA NA NA NA rs8023121 0.62 0.62 0.64 0.666134 0.5557 0.5119 0.5375 0.9077 0.7035 0.55 0.48 0.57 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216731 NA NA NA NA NA 0.725 NA 3.4443 1308 15 23021113 23021113 G A intronic NIPA2 NA NA NA intronic ENSG00000140157 NA NA NA NA NA 15q11.2 NA NA NA NA rs7170784 0.39 0.39 0.352 0.379593 0.5557 0.2817 0.4697 0.1528 0.5419 0.57 0.27 0.48 0.16 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735978 NA NA NA NA NA 0.268 NA 3.4443 1308 10 73579405 73579405 C T intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs3747860 0.17 0.17 0.159 0.163339 0.1968 0.2431 0.1484 0.1089 0.1309 0.19 0.22 0.13 0.12 0.1746 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379982 NA NA 0.184302 0.13005 NA 0.167 NA 3.444298 1308 12 52843688 52843688 T C intronic KRT6B NA NA NA intronic ENSG00000185479 NA NA NA NA NA 12q13.13 NA NA NA NA rs639374 0.26 0.26 0.2 NA NA NA NA NA NA 0.3 0.4 0.25 0.04 0.2603 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454484 NA NA 0.29593 0.067862 NA 0.159 NA 3.44377 1308 14 93198972 93198972 A T intronic LGMN NA NA NA intronic ENSG00000100600 NA NA NA NA NA 14q32.12 NA NA NA NA rs12885208 0.13 0.13 0.108 0.108427 0.2028 0.0377 0.1657 0.0507 0.1217 0.2 0.05 0.17 0.07 0.1613 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.250357 NA NA 0.192209 0.072628 NA 0.174 NA 3.443691 1308 1 109813510 109813510 A T intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA NA NA NA rs41279716 0.12 0.12 0.131 0.119409 0.1849 0.0546 0.0793 0.0734 0.2096 0.19 0.07 0.09 0.11 0.17 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.137042 2.137042 NA 0.201628 0.099637 NA 0.181 NA 3.443472 1308 15 34529776 34529776 A G intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs17817806 0.2 0.2 0.185 0.207069 0.2058 0.2837 0.2017 0.1256 0.2434 0.22 0.27 0.2 0.11 0.189 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486808 1.486808 NA 0.161819 0.119264 NA 0.094 NA 3.443381 1308 1 36921371 36921371 G T UTR3 MRPS15 NM_031280:c.*18C>A NA NA UTR3 ENSG00000116898 ENST00000373116:c.*18C>A NA NA NA NA 1p34.3 NA NA NA NA rs1538634 0.27 0.27 0.256 0.235224 0.3032 0.246 0.4481 0.0726 0.2229 0.3 0.31 0.38 0.09 0.2876 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681278 NA NA 0.299186 0.1069 NA 0.188 NA 3.4433474 1308 1 36641729 36641729 C T intronic MAP7D1 NA NA NA intronic ENSG00000116871 NA NA NA NA NA 1p34.3 NA NA NA NA rs2296263 0.48 0.48 0.451 0.446885 0.5567 0.502 0.4467 0.3238 0.4438 0.56 0.47 0.47 0.37 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511298 1.511298 NA NA NA NA 0.58 NA 3.4433 1308 1 227935280 227935280 C T intronic SNAP47 NA NA NA intronic ENSG00000143740 NA NA NA NA NA 1q42.13 NA NA NA NA rs2236361 0.73 0.73 0.732 0.748003 0.5567 0.7887 0.7104 0.9531 0.6524 0.56 0.79 0.7 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777087 NA NA NA NA NA 0.659 NA 3.4433 1308 12 124332702 124332702 A G intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs10846561 0.39 0.39 0.367 0.366014 0.5567 0.2639 0.4236 0.2315 0.4162 0.56 0.26 0.43 0.23 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453727 1.453727 NA NA NA NA 0.377 NA 3.4433 1308 22 20096314 20096314 G A intronic DGCR8 NA NA NA intronic ENSG00000128191 NA NA NA NA NA 22q11.21 NA NA NA NA rs1633442 NA NA NA 0.560903 0.5567 0.6825 0.7248 0.3979 0.544 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270876 NA NA NA NA NA NA NA 3.4433 1308 1 158058109 158058109 C A intronic KIRREL NA NA NA intronic ENSG00000183853 NA NA NA NA Name=Obesity-related traits 1q23.1 NA NA NA NA rs6427419 0.46 0.46 0.365 0.452476 0.5149 0.6974 0.5836 0.0257 0.6196 0.51 0.69 0.55 0.02 0.5241 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657643 NA NA 0.517907 0.122333 NA 0.536 NA 3.443093 1308 11 113618936 113618936 A T intronic ZW10 NA NA NA intronic ENSG00000086827 NA NA NA NA NA 11q23.2 NA NA NA NA rs2271261 0.13 0.13 0.136 0.121006 0.1789 0.1359 0.1239 0.0552 0.1329 0.18 0.15 0.13 0.05 0.1694 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192907 NA NA 0.209032 0.08587 NA 0.217 NA 3.442668 1308 8 124659329 124659329 C A intronic KLHL38 NA NA NA ncRNA_intronic ENSG00000253286 NA NA NA NA NA 8q24.13 NA NA NA NA rs11991744 0.8 0.8 0.831 0.78754 0.8907 0.7212 0.7666 0.8162 0.726 0.89 0.71 0.78 0.79 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609426 NA NA NA NA NA 0.848 NA 3.4426333 1308 5 156644939 156644939 G A intronic ITK NA NA NA ncRNA_intronic ENSG00000253980 NA NA NA NA NA 5q33.3 NA NA NA NA rs246747 0.21 0.21 0.201 0.200879 0.3111 0.1984 0.3285 0.056 0.1953 0.29 0.17 0.33 0.05 0.2663 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374109 NA NA 0.313488 0.108715 NA 0.254 NA 3.4424453 1308 1 13173016 13173016 A G intergenic PRAMEF5,LOC440563 dist=55265;dist=9944 NA NA ncRNA_exonic ENSG00000236179 NA NA NA NA NA 1p36.21 NA NA NA NA rs1852947 0.48 0.48 0.442 0.444089 0.5577 0.4246 0.5317 0.3177 0.456 0.56 0.46 0.54 0.34 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153165 NA NA NA NA NA 0.42 NA 3.4423 1308 9 32491240 32491240 C T intronic DDX58 NA NA NA intronic ENSG00000107201 NA NA NA NA NA 9p21.1 NA NA NA NA rs6476363 0.39 0.39 0.355 0.407748 0.5577 0.2212 0.4755 0.3169 0.5204 0.54 0.18 0.49 0.3 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406962 NA NA NA NA ID=COSN168501;OCCURENCE=1(large_intestine) 0.493 NA 3.4423 1308 9 127245412 127245412 C T intronic NR5A1 NA NA NA intronic ENSG00000136931 NA NA NA NA NA 9q33.3 NA NA NA NA rs7037254 0.37 0.37 0.368 0.335264 0.5577 0.247 0.3285 0.2231 0.3538 0.54 0.22 0.36 0.29 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.573326 2.573326 NA NA NA NA 0.37 NA 3.4423 1308 19 50882169 50882169 A G intronic NR1H2 NA NA NA intronic ENSG00000131408 NA NA NA NA NA 19q13.33 NA NA NA NA rs2248949 0.7 0.7 0.686 0.722843 0.5577 0.8661 0.6455 0.792 0.7065 0.54 0.88 0.63 0.78 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.130598 NA NA NA NA NA 0.645 NA 3.4423 1308 22 17395070 17395070 C G intergenic HSFY1P1,GAB4 dist=84845;dist=47757 NA NA downstream ENSG00000253691 NA NA NA NA NA 22q11.1 NA NA NA NA rs9618932 0.05 0.05 0.045 0.0463259 0.0577 NA 0.0461 0.0998 0.0102 0.06 NA 0.04 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963121 NA NA NA NA NA 0.065 NA 3.4423 1308 12 99119340 99119340 G A intronic APAF1 NA NA NA intronic ENSG00000120868 NA NA NA NA NA 12q23.1 NA NA NA NA rs2304006 0.09 0.09 0.089 0.0884585 0.1759 0.0248 0.121 0.0068 0.1513 0.18 0.03 0.12 0.01 0.1649 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009274 NA NA 0.217326 0.042896 NA 0.036 NA 3.441874 1308 14 105692697 105692697 G C intronic BRF1 NA NA NA intronic ENSG00000185024 NA NA NA NA NA 14q32.33 NA NA NA NA rs12883636 0.34 0.34 0.333 0.344649 0.2843 0.0179 0.304 0.8533 0.0849 0.27 0.02 0.3 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753686 NA NA 0.274041 0.772399 NA 0.435 NA 3.441659 1308 8 67364085 67364085 T C intronic ADHFE1 NA NA NA intronic ENSG00000147576 NA NA NA NA NA 8q13.1 NA NA NA NA rs2465982 0.66 0.66 0.659 0.686701 0.5586 0.5923 0.7608 0.8676 0.6186 0.54 0.63 0.71 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120532 NA NA NA NA NA 0.623 NA 3.4414 1308 17 47021418 47021418 A C intronic SNF8 NA NA NA intronic ENSG00000159210 NA NA NA NA NA 17q21.32 NA NA NA NA rs12603612 0.44 0.44 0.43 0.424121 0.5586 0.6825 0.4524 0.0658 0.4836 0.52 0.66 0.41 0.07 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51457 NA NA NA NA NA 0.362 NA 3.4414 1308 17 47021428 47021428 C G intronic SNF8 NA NA NA intronic ENSG00000159210 NA NA NA NA NA 17q21.32 NA NA NA NA rs2411375 0.43 0.43 0.131 0.424121 0.5586 0.6825 0.4524 0.0658 0.4836 0.52 0.65 0.41 0.07 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791388 NA NA NA NA NA 0.159 NA 3.4414 1308 19 41704304 41704304 T C intronic CYP2S1 NA NA NA intronic ENSG00000167600 NA NA NA NA NA 19q13.2 NA NA NA NA rs338593 0.58 0.58 0.584 0.586062 0.5586 0.5744 0.3948 0.7526 0.5368 0.55 0.54 0.47 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434581 NA NA NA NA NA 0.609 NA 3.4414 1308 11 33780163 33780163 A T intronic FBXO3 NA NA NA intronic ENSG00000110429 NA NA NA NA NA 11p13 NA NA NA NA rs1522086 0.13 0.13 0.128 0.122804 0.1948 0.0248 0.0893 0.1384 0.1524 0.2 0.02 0.12 0.15 0.1654 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767744 NA NA 0.198464 0.154178 NA 0.072 NA 3.441336 1308 2 74087290 74087290 T C intronic STAMBP NA NA NA intronic ENSG00000124356 NA NA NA NA NA 2p13.1 NA NA NA NA rs1025424 0.16 0.16 0.156 0.158546 0.1779 0.005 0.2219 0.2708 0.1002 0.19 0.01 0.2 0.27 0.1776 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024055 NA NA 0.203256 0.279619 NA 0.254 NA 3.441244 1308 11 20660149 20660149 C T intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA NA NA 11p15.1 NA NA NA NA rs72932948 0.1 0.1 0.082 0.0722843 0.1879 0.002 0.1398 0.0144 0.0562 0.2 0.0017 0.16 0.02 0.1609 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944323 NA NA 0.210233 0.041307 NA 0.051 NA 3.440967 1308 22 50943423 50943423 G A intronic LMF2 NA NA NA intronic ENSG00000100258 NA NA NA NA NA 22q13.33 NA NA NA NA rs762669 0.13 0.13 0.127 0.107029 0.2008 0.0288 0.1153 0.0998 0.0951 0.2 0.02 0.14 0.11 0.1552 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443642 1.443642 NA 0.20307 0.099091 NA 0.072 NA 3.44093 1308 1 176915022 176915022 A G intronic ASTN1 NA NA NA intronic ENSG00000152092 NA NA NA NA NA 1q25.2 NA NA NA NA rs2076070 0.23 0.23 0.226 0.240016 0.163 0.1488 0.3026 0.4259 0.1176 0.16 0.15 0.28 0.4 0.2095 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066473 NA NA 0.186744 0.382433 NA 0.167 NA 3.440756 1308 3 136573289 136573289 G A UTR5 SLC35G2 NM_001097599:c.-14G>A,NM_001097600:c.-14G>A,NM_025246:c.-14G>A NA NA ncRNA_UTR5 ENSG00000168917 NA NA NA NA NA 3q22.3 Score=881;Name=V$GATA1_04 NA NA NA rs9865545 0.71 0.71 0.678 0.702077 0.6551 0.8492 0.7651 0.5613 0.7444 0.65 0.86 0.75 0.59 0.7133 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071013 NA NA 0.690889 0.599609 NA 0.536 NA 3.440711 1308 14 88936254 88936254 A G intronic PTPN21 NA NA NA UTR3 ENSG00000042317 ENST00000556406:c.*43A>G NA NA NA NA 14q31.3 NA NA NA NA rs2297128 0.26 0.26 0.256 0.24401 0.2286 0.3522 0.2104 0.1967 0.2362 0.24 0.34 0.22 0.22 0.2384 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011461 NA NA 0.259186 0.206764 NA 0.283 NA 3.4404807 1308 1 167082869 167082869 G A intronic DUSP27 NA NA NA intronic ENSG00000198842 NA NA NA NA NA 1q24.1 NA NA NA NA rs12122365 0.7 0.7 0.716 0.666334 0.5596 0.8929 0.4986 0.7958 0.4867 0.56 0.92 0.55 0.78 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878741 NA NA NA NA NA 0.674 NA 3.4404 1308 9 138480486 138480486 C T intergenic LOC100130954,GLT6D1 dist=1528;dist=35016 NA NA ncRNA_exonic ENSG00000224045 NA NA NA NA NA 9q34.3 NA NA NA NA rs3849218 0.44 0.44 0.44 0.418331 0.5596 0.2798 0.4597 0.3593 0.4663 0.56 0.29 0.45 0.42 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294528 NA NA NA NA NA 0.138 NA 3.4404 1308 15 40494498 40494498 G A intronic BUB1B NA NA NA intronic ENSG00000156970 NA NA NA NA NA 15q15.1 NA NA NA NA rs2305653 0.49 0.49 0.52 0.492013 0.5596 0.2817 0.4928 0.5968 0.4969 0.55 0.29 0.49 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562579 NA NA NA NA NA 0.58 NA 3.4404 1308 15 43453056 43453056 C G intronic TMEM62 NA NA NA intronic ENSG00000137842 NA NA NA NA NA 15q15.2 NA NA NA NA rs11070392 0.34 0.34 0.321 0.299521 0.5596 0.2669 0.3991 0.025 0.3661 0.56 0.27 0.43 0.03 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526484 NA NA NA NA NA 0.304 NA 3.4404 1308 16 5415971 5415971 A G intergenic FAM86A,RBFOX1 dist=268182;dist=653161 NA NA ncRNA_exonic ENSG00000261007 NA NA NA NA NA 16p13.3 NA NA NA NA rs4786026 0.51 0.51 0.51 0.501398 0.5596 0.3859 0.5288 0.5393 0.4898 0.56 0.41 0.54 0.53 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92508 NA NA NA NA NA 0.551 NA 3.4404 1308 18 60110469 60110469 T G intergenic TNFRSF11A,ZCCHC2 dist=55526;dist=80189 NA NA downstream ENSG00000266920 NA NA NA NA NA 18q21.33 NA NA NA NA rs74413211 0.07 0.07 0.05 0.067492 0.0596 0.0248 0.0749 0.1437 0.0112 0.05 0.03 0.08 0.12 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615472 NA NA NA NA NA 0.058 NA 3.4404 1308 19 18679155 18679155 C T intronic KXD1 NA NA NA intronic ENSG00000105700 NA NA NA NA NA 19p13.11 NA NA NA NA rs1468475 0.52 0.52 0.5 0.481629 0.5596 0.6905 0.5648 0.2126 0.4908 0.58 0.69 0.54 0.24 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10851 NA NA NA NA NA 0.428 NA 3.4404 1308 19 49638956 49638956 C G intronic PPFIA3 NA NA NA intronic ENSG00000177380 NA NA NA NA NA 19q13.33 NA NA NA NA rs745124 0.53 0.53 0.522 0.555711 0.5596 0.256 0.5548 0.7905 0.544 0.57 0.25 0.6 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507633 NA NA NA NA NA 0.522 NA 3.4404 1308 19 37967214 37967214 C T intronic ZNF570 NA NA NA intronic ENSG00000171827 NA NA NA NA NA 19q13.12 NA NA NA NA rs7253091 0.3 0.3 0.283 0.33766 0.1541 0.2986 0.2594 0.4992 0.4039 0.15 0.33 0.28 0.5 0.2366 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332913 NA NA 0.169186 0.451884 NA 0.29 NA 3.440114 1308 7 25264847 25264847 T A intronic NPVF NA NA NA intronic ENSG00000105954 NA NA NA NA NA 7p15.3 NA NA NA NA rs2717854 0.28 0.28 0.288 0.283946 0.2793 0.1458 0.3199 0.3911 0.2607 0.27 0.14 0.33 0.43 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485878 NA NA 0.280641 0.374277 NA 0.304 NA 3.440059 1308 19 20808515 20808515 T A intronic ZNF626 NA NA NA ncRNA_intronic ENSG00000269110 NA NA NA NA NA 19p12 NA NA NA NA rs1968385 0.8 0.8 0.787 0.779153 0.8936 0.8343 0.8804 0.5802 0.8016 0.88 0.83 0.9 0.58 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310571 NA NA NA NA NA 0.703 NA 3.4397333 1308 1 203036757 203036757 T C intronic PPFIA4 NA NA NA intronic ENSG00000143847 NA NA NA NA NA 1q32.1 NA NA NA NA rs2275354 0.48 0.48 0.465 0.485623 0.5606 0.4107 0.4856 0.4183 0.5767 0.58 0.36 0.5 0.45 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044346 NA NA NA NA NA 0.609 NA 3.4394 1308 4 58969387 58969387 G C intergenic LOC255130,NONE dist=897922;dist=NONE NA NA ncRNA_exonic ENSG00000248660 NA NA NA NA NA 4q12 NA NA NA NA rs2660945 0.52 0.52 0.491 0.511781 0.5606 0.4891 0.6239 0.4697 0.4622 0.55 0.5 0.58 0.45 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052448 NA NA NA NA NA 0.486 NA 3.4394 1308 4 58969479 58969479 A G intergenic LOC255130,NONE dist=898014;dist=NONE NA NA ncRNA_exonic ENSG00000248660 NA NA NA NA NA 4q12 NA NA NA NA rs7693197 0.52 0.52 0.482 0.511581 0.5606 0.4891 0.6239 0.469 0.4622 0.55 0.5 0.58 0.44 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118786 NA NA NA NA NA 0.478 NA 3.4394 1308 5 137780368 137780368 C A intronic REEP2 NA NA NA intronic ENSG00000132563 NA NA NA NA NA 5q31.2 NA NA NA NA rs2240331 0.58 0.58 0.59 0.57528 0.5606 0.7817 0.464 0.475 0.592 0.56 0.8 0.47 0.46 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488825 1.488825 NA NA NA NA 0.471 NA 3.4394 1308 2 241813496 241813496 C T intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs11693280 0.11 0.11 0.091 0.0820687 0.2058 NA 0.1383 0.0363 0.0613 0.21 NA 0.15 0.05 0.15 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108695 NA NA 0.204884 0.061734 NA 0.109 NA 3.439316 1308 7 45139892 45139892 G A UTR3 TBRG4 NM_199122:c.*32C>T,NM_004749:c.*32C>T,NM_030900:c.*32C>T,NM_001261834:c.*32C>T NA NA UTR3 ENSG00000136270 ENST00000395655:c.*32C>T,ENST00000361278:c.*32C>T,ENST00000258770:c.*32C>T,ENST00000494076:c.*32C>T NA NA NA NA 7p13 NA NA NA NA rs4553 0.35 0.35 0.375 0.401957 0.2734 0.1905 0.2709 0.6989 0.4438 0.27 0.17 0.31 0.72 0.3305 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366603 NA NA 0.290233 0.652065 NA 0.406 NA 3.4392004 1308 2 241808792 241808792 C T intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs34995778 0.11 0.11 0.1 0.0816693 0.2038 NA 0.134 0.0386 0.0613 0.21 NA 0.14 0.06 0.1531 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046054 NA NA 0.20407 0.06355 NA 0.109 NA 3.43903 1308 11 56380008 56380008 C T intronic OR8U8 NA NA NA downstream ENSG00000255012 NA NA NA NA NA 11q12.1 NA NA NA NA rs12292069 0.11 0.11 0.11 0.104433 0.1372 NA 0.0965 0.2133 0.0368 0.14 NA 0.08 0.22 0.1178 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56502 NA NA 0.13933 0.21444 NA 0.109 NA 3.4390033 1308 2 71747899 71747899 G A intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs12713756 0.38 0.38 0.35 0.367812 0.5537 0.122 0.5086 0.3737 0.3221 0.55 0.09 0.51 0.35 0.4755 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.276452 NA NA 0.531977 0.42601 NA 0.399 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080336.1;CLNDSDB=.;CLNDSDBID=. 3.438823 1308 16 20492307 20492307 G A intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs1700810 0.49 0.49 0.49 0.508986 0.2614 0.7917 0.2781 0.6392 0.4601 0.28 0.8 0.29 0.62 0.2999 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87409 NA NA NA NA NA 0.449 NA 3.4387 1308 2 33622448 33622448 T C intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs2367734 0.67 0.67 0.651 0.626797 0.5616 0.8601 0.6124 0.5877 0.5164 0.57 0.89 0.59 0.66 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333199 1.333199 NA NA NA NA 0.638 NA 3.4384 1308 3 9859198 9859198 G A intronic ARPC4-TTLL3,TTLL3 NA NA NA intronic ENSG00000214021,ENSG00000250151 NA NA NA NA NA 3p25.3 NA NA NA NA rs11131190 0.32 0.32 0.313 0.265575 0.5616 0.1498 0.3012 0.1278 0.2413 0.57 0.15 0.34 0.13 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07739 NA NA NA NA NA 0.413 NA 3.4384 1308 3 45784963 45784963 T C intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs9821974 0.37 0.37 0.325 0.316693 0.5616 0.2242 0.428 0.1702 0.2791 0.58 0.2 0.46 0.18 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.566493 1.566493 NA NA NA NA 0.362 NA 3.4384 1308 4 58969418 58969418 A G intergenic LOC255130,NONE dist=897953;dist=NONE NA NA ncRNA_exonic ENSG00000248660 NA NA NA NA NA 4q12 NA NA NA NA rs2611174 0.52 0.52 0.473 0.514577 0.5616 0.4891 0.6239 0.4796 0.4622 0.55 0.5 0.58 0.45 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.31057 NA NA NA NA NA 0.486 NA 3.4384 1308 10 26356066 26356066 C T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3824695 0.4 0.4 0.386 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.57 0.29 0.34 0.3 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34864 NA NA NA NA NA 0.435 NA 3.4384 1308 10 26357625 26357625 T C intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3817421 0.4 0.4 0.406 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.57 0.29 0.34 0.3 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.517901 1.517901 NA NA NA NA 0.457 NA 3.4384 1308 14 106376385 106376385 G A intergenic ELK2AP,KIAA0125 dist=237241;dist=7453 NA NA upstream ENSG00000228131,ENSG00000237197 NA NA NA NA NA 14q32.33 NA NA NA NA rs3794477 0.2 0.2 0.198 0.229433 0.0616 0.3095 0.1513 0.4259 0.1094 0.06 0.27 0.18 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257459 NA NA NA NA NA 0.058 NA 3.4384 1308 17 64049733 64049733 A G intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs1401049 0.44 0.44 0.463 0.439497 0.5616 0.125 0.3314 0.6868 0.3804 0.56 0.13 0.36 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.241635 3.241635 NA NA NA NA 0.507 NA 3.4384 1308 17 64050062 64050062 G A intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs1401048 0.44 0.44 0.463 0.439097 0.5616 0.125 0.3314 0.6853 0.3804 0.56 0.13 0.36 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488041 NA NA NA NA NA 0.486 NA 3.4384 1308 19 39976734 39976734 G A intronic TIMM50 NA NA NA intronic ENSG00000105197 NA NA NA NA NA 19q13.2 NA NA NA NA rs4803247 0.6 0.6 0.611 0.639377 0.5616 0.5734 0.5331 0.7995 0.6462 0.56 0.51 0.55 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791698 NA NA NA NA NA 0.536 NA 3.4384 1308 10 99655606 99655606 G C intronic CRTAC1 NA NA NA intronic ENSG00000095713 NA NA NA NA NA 10q24.2 NA NA NA NA rs2297938 0.16 0.16 0.147 0.166933 0.1928 0.12 0.1311 0.1808 0.1953 0.19 0.1 0.15 0.19 0.1732 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393146 NA NA 0.195698 0.170222 NA 0.159 NA 3.438302 1308 19 53995004 53995004 G A exonic ZNF813 NA synonymous SNV ZNF813:NM_001004301:exon4:c.G1518A:p.R506R exonic ENSG00000198346 NA synonymous SNV ENSG00000198346:ENST00000396403:exon4:c.G1518A:p.R506R NA NA 19q13.42 NA NA NA NA rs2708845 0.76 0.76 0.769 0.782947 0.7485 0.6498 0.8084 0.9304 0.7382 0.73 0.64 0.8 0.91 0.7483 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469203 NA NA 0.731565 0.897908 NA 0.819 NA 3.4383016 1308 6 43646401 43646401 A G intronic MRPS18A NA NA NA intronic ENSG00000096080 NA NA NA NA NA 6p21.1 NA NA NA NA rs2295948 0.32 0.32 0.329 0.355431 0.16 0.3988 0.1686 0.5378 0.3978 0.16 0.41 0.17 0.57 0.2442 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724031 NA NA 0.157558 0.460735 ID=COSN167775;OCCURENCE=1(large_intestine) 0.29 NA 3.438242 1308 5 169812303 169812303 G A intronic KCNIP1,KCNMB1 NA NA NA intronic ENSG00000145936,ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs2071156 0.21 0.21 0.204 0.240615 0.17 0.2192 0.2061 0.2753 0.3129 0.17 0.25 0.19 0.22 0.2043 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68817 NA NA 0.188023 0.259419 NA 0.116 NA 3.437677 1308 6 153315617 153315617 G A intronic MTRF1L NA NA NA intronic ENSG00000112031 NA NA NA NA NA 6q25.2 NA NA NA NA rs3799135 0.2 0.2 0.17 0.236821 0.162 0.1498 0.3026 0.2663 0.317 0.16 0.13 0.3 0.28 0.2213 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143548 NA NA 0.179186 0.247844 ID=COSN167914;OCCURENCE=1(large_intestine) 0.225 NA 3.437514 1308 1 183072908 183072908 T C intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs10797835 0.53 0.53 0.496 0.53135 0.5626 0.628 0.6254 0.3321 0.6022 0.57 0.58 0.58 0.38 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204253 NA NA NA NA NA 0.464 NA 3.4374 1308 3 42218095 42218095 G C intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA NA NA NA rs1010987 0.7 0.7 0.69 0.658347 0.5626 0.9454 0.7378 0.5613 0.5358 0.55 0.97 0.7 0.62 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822803 NA NA NA NA NA 0.623 NA 3.4374 1308 4 8608934 8608934 C T intronic CPZ NA NA NA intronic ENSG00000109625,ENSG00000155269 NA NA NA NA NA 4p16.1 NA NA NA NA rs2302579 0.59 0.59 0.594 0.596246 0.5626 0.62 0.6744 0.5038 0.6759 0.56 0.63 0.65 0.53 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150299 NA NA NA NA NA 0.529 NA 3.4374 1308 4 165850806 165850806 A G intergenic LOC100506013,TRIM61 dist=32130;dist=24792 NA NA ncRNA_exonic ENSG00000221891 NA NA NA NA NA 4q32.3 NA NA NA NA rs5027301 0.63 0.63 0.6 0.659345 0.5626 0.755 0.647 0.6445 0.6892 0.56 0.71 0.64 0.63 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590747 NA NA NA NA NA 0.667 NA 3.4374 1308 10 94967076 94967076 A G intergenic CYP26A1,MYOF dist=129435;dist=99110 NA NA ncRNA_exonic ENSG00000237417 NA NA NA NA NA 10q23.33 NA NA NA NA rs7070947 0.38 0.38 0.398 0.388578 0.5626 0.0526 0.4107 0.5159 0.3681 0.55 0.06 0.44 0.46 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507966 NA NA NA NA NA 0.355 NA 3.4374 1308 11 403484 403484 G C intronic PKP3 NA NA NA intronic ENSG00000184363 NA NA NA NA NA 11p15.5 NA NA NA NA rs74045276 0.44 0.44 0.355 0.449081 0.5626 0.3571 0.5965 0.298 0.5266 0.55 0.35 0.56 0.28 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18222 NA NA NA NA NA 0.319 NA 3.4374 1308 11 64326795 64326795 A G intronic SLC22A11 NA NA NA intronic ENSG00000168065 NA NA NA NA NA 11q13.1 NA NA NA NA rs2277312 0.44 0.44 0.437 0.453075 0.5626 0.0655 0.3501 0.7905 0.3569 0.55 0.07 0.38 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563716 NA NA NA NA NA 0.645 NA 3.4374 1308 14 34396100 34396100 C T intronic EGLN3 NA NA NA intronic ENSG00000129521 NA NA NA NA NA 14q13.1 NA NA NA NA rs10137361 0.59 0.59 0.539 0.617612 0.5626 0.6696 0.7118 0.4728 0.7495 0.55 0.67 0.67 0.48 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014766 NA NA NA NA NA 0.442 NA 3.4374 1308 16 5143647 5143647 A G intronic FAM86A NA NA NA intronic ENSG00000118894 NA NA NA NA NA 16p13.3 NA NA NA NA rs35736978 0.47 0.47 0.324 0.504992 0.5626 0.4554 0.5288 0.3449 0.6963 0.57 0.45 0.52 0.32 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391961 NA NA NA NA NA 0.138 NA 3.4374 1308 17 2604375 2604375 C T intronic CLUH NA NA NA intronic ENSG00000132361 NA NA NA NA NA 17p13.3 NA NA NA NA rs758417 0.48 0.48 0.465 0.446685 0.5626 0.5228 0.6182 0.1452 0.5348 0.57 0.54 0.61 0.15 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393073 NA NA NA NA NA 0.42 NA 3.4374 1308 19 33110047 33110047 T C intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs28505804 0.46 0.46 0.457 0.459465 0.5626 0.2877 0.3775 0.5144 0.5143 0.58 0.28 0.43 0.51 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065996 NA NA NA NA NA 0.478 NA 3.4374 1308 19 33110058 33110058 A C intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs34727912 0.46 0.46 0.456 0.459265 0.5626 0.2877 0.3775 0.5136 0.5143 0.57 0.28 0.43 0.51 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848813 NA NA NA NA NA 0.522 NA 3.4374 1308 19 33131112 33131112 G A intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs3760943 0.35 0.35 0.099 0.305911 0.5626 0.2331 0.3934 0.0477 0.4039 0.57 0.26 0.42 0.05 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72751 NA NA NA NA NA 0.348 NA 3.4374 1308 12 64838922 64838922 G T intronic XPOT NA NA NA intronic ENSG00000184575 NA NA NA Score=582;Name=lod=310 NA 12q14.2 NA NA NA NA rs6581565 0.4 0.4 0.331 0.34984 0.5408 0.3046 0.4769 0.1528 0.3763 0.54 0.34 0.51 0.2 0.4646 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.519303 3.519303 NA 0.557442 0.19882 NA 0.493 NA 3.437158 1308 X 299635 299635 C T intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs6655399 0.24 0.24 0.24483 NA NA NA NA NA NA 0.31 0.23 0.24 0.15 0.2631 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320029 NA NA 0.299767 0.197225 NA 0.181 NA 3.437133 1308 19 40407901 40407901 G A intronic FCGBP NA NA NA intronic ENSG00000090920 NA NA NA NA NA 19q13.2 NA NA NA NA rs3901397 0.1 0.1 0.087 0.114217 0.1849 0.0387 0.2017 0.0439 0.1524 0.17 0.03 0.12 0.04 0.177 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665809 NA NA 0.200977 0.085111 ID=COSN165814;OCCURENCE=1(NS) 0.109 NA 3.437123 1308 1 183095477 183095477 G A intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs2296293 0.53 0.53 0.514 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017703 NA NA NA NA NA 0.464 NA 3.4364 1308 1 183101471 183101471 G A intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs12061219 0.53 0.53 0.509 0.53155 0.5636 0.628 0.6254 0.3321 0.6022 0.57 0.58 0.58 0.38 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922551 NA NA NA NA NA 0.435 NA 3.4364 1308 3 52555316 52555316 G A intronic STAB1 NA NA NA intronic ENSG00000010327 NA NA NA NA NA 3p21.1 NA NA NA NA rs13081028 0.59 0.59 0.612 0.545527 0.5636 0.4633 0.6455 0.7005 0.3313 0.57 0.52 0.66 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304351 NA NA NA NA NA 0.565 NA 3.4364 1308 8 2024446 2024446 C T intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs3817700 0.63 0.63 0.611 0.640176 0.5636 0.5813 0.598 0.8865 0.4765 0.54 0.6 0.55 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295331 NA NA NA NA NA 0.13 NA 3.4364 1308 12 29485449 29485449 G A intronic FAR2 NA NA NA intronic ENSG00000064763 NA NA NA NA NA 12p11.22 NA NA NA NA rs10743656 0.64 0.64 0.678 0.666534 0.5636 0.6964 0.4712 0.8616 0.6166 0.57 0.67 0.45 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277539 NA NA NA NA NA 0.623 NA 3.4364 1308 15 90172133 90172133 C G intronic KIF7 NA NA NA intronic ENSG00000140534,ENSG00000166813 NA NA NA NA NA 15q26.1 NA NA NA NA rs12914042 0.45 0.45 0.477 0.423323 0.5636 0.3333 0.4438 0.3404 0.4693 0.57 0.37 0.49 0.35 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52054 NA NA NA NA ID=COSN165043;OCCURENCE=1(breast) 0.471 NA 3.4364 1308 15 94368497 94368497 G C intergenic RGMA,MCTP2 dist=736054;dist=472933 NA NA ncRNA_intronic ENSG00000258754 NA NA NA NA NA 15q26.2 NA NA NA NA rs6416595 0.58 0.58 0.581 0.582468 0.5636 0.4375 0.5216 0.8011 0.499 0.56 0.46 0.52 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49623 NA NA NA NA NA 0.725 NA 3.4364 1308 16 58296172 58296172 C T intronic CCDC113 NA NA NA intronic ENSG00000103021 NA NA NA NA NA 16q21 NA NA NA NA rs11076237 0.51 0.51 0.51 0.508187 0.5636 0.3948 0.3761 0.6415 0.4816 0.57 0.38 0.44 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073138 NA NA NA NA NA 0.529 NA 3.4364 1308 19 54872349 54872349 G A intronic LAIR1 NA NA NA intronic ENSG00000167613 NA NA NA NA NA 19q13.42 NA NA NA NA rs3745444 0.41 0.41 0.376 0.382788 0.5636 0.3819 0.3746 0.1967 0.455 0.55 0.4 0.39 0.22 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157356 NA NA NA NA NA NA NA 3.4364 1308 15 84488529 84488529 T C intronic ADAMTSL3 NA NA NA intronic ENSG00000156218 NA NA NA NA NA 15q25.2 NA NA NA NA rs4583200 0.11 0.11 0.094 0.0954473 0.1968 0.0308 0.1513 0.0129 0.1299 0.2 0.03 0.17 0.02 0.163 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567454 NA NA 0.203837 0.038811 NA 0.072 NA 3.436363 1308 16 84495761 84495761 G C intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs34205686 0.18 0.18 0.174 0.151558 0.3072 0.1042 0.2349 0.0348 0.1391 0.3 0.11 0.23 0.04 0.2616 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020333 NA NA 0.328475 0.063646 NA 0.167 NA 3.4360583 1308 2 74902872 74902872 A G intronic SEMA4F NA NA NA intronic ENSG00000135622 NA NA NA NA NA 2p13.1 NA NA NA NA rs363609 0.5 0.5 0.529 0.530751 0.1471 0.8204 0.3127 0.8517 0.3476 0.14 0.82 0.27 0.84 0.2763 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.664004 NA NA 0.140698 0.751475 NA 0.42 NA 3.435902 1308 17 49156907 49156907 A G intronic SPAG9 NA NA NA ncRNA_intronic ENSG00000249870 NA NA NA NA NA 17q21.33 NA NA NA NA rs8081821 0.29 0.29 0.278 0.279353 0.2922 0.2341 0.3573 0.2965 0.2342 0.28 0.23 0.36 0.32 0.3075 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044856 NA NA 0.297791 0.32433 ID=COSN165465;OCCURENCE=1(breast) 0.304 NA 3.4358423 1308 1 248402758 248402758 C T exonic OR2M4 NA synonymous SNV OR2M4:NM_017504:exon1:c.C528T:p.H176H exonic ENSG00000171180 NA synonymous SNV ENSG00000171180:ENST00000306687:exon1:c.C528T:p.H176H NA NA 1q44 NA NA NA NA rs6666148 0.68 0.68 0.639 0.702875 0.7346 0.7966 0.7522 0.4266 0.9121 0.75 0.79 0.7 0.43 0.7488 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145927 NA NA 0.747442 0.500908 NA 0.63 NA 3.4358246 1308 19 59058693 59058693 G A intronic TRIM28 NA NA NA intronic ENSG00000130726 NA NA NA NA NA 19q13.43 NA NA NA NA rs3816329 0.17 0.17 0.205 0.18131 0.2167 0.0546 0.1801 0.2443 0.1912 0.2 0.06 0.17 0.24 0.1758 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.685437 1.685437 NA 0.17186 0.239219 NA 0.268 NA 3.43564 1308 7 88847453 88847453 G T intronic ZNF804B NA NA NA intronic ENSG00000182348 NA NA NA NA NA 7q21.13 NA NA NA NA rs4140974 NA NA NA 0.273562 0.2952 0.122 0.2147 0.3487 0.3476 NA NA NA NA 0.2694 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.365526 NA NA NA NA NA NA NA 3.4354 1308 10 3154534 3154534 A G intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs2306304 0.49 0.49 0.474 0.446685 0.5646 0.4018 0.4597 0.438 0.3742 0.59 0.38 0.5 0.46 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332114 NA NA NA NA NA 0.551 NA 3.4354 1308 11 130416832 130416832 T G intergenic ADAMTS15,C11orf44 dist=70293;dist=126019 NA NA ncRNA_exonic ENSG00000236616 NA NA NA NA NA 11q24.3 NA NA NA NA rs2703752 0.61 0.61 0.62 0.605631 0.5646 0.506 0.5331 0.8283 0.501 0.56 0.53 0.54 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220953 NA NA NA NA NA 0.551 NA 3.4354 1308 12 53040411 53040411 T C intronic KRT2 NA NA NA intronic ENSG00000172867 NA NA NA NA NA 12q13.13 NA NA NA NA rs2232559 0.64 0.64 0.622 0.632388 0.5646 0.8829 0.5548 0.559 0.5982 0.56 0.89 0.57 0.53 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225019 NA NA NA NA NA 0.493 NA 3.4354 1308 16 58296542 58296542 T C intronic CCDC113 NA NA NA intronic ENSG00000103021 NA NA NA NA NA 16q21 NA NA NA NA rs9923694 0.51 0.51 0.483 0.508387 0.5646 0.3948 0.3761 0.6415 0.4816 0.57 0.38 0.44 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143031 NA NA NA NA NA 0.529 NA 3.4354 1308 17 28417376 28417376 T C intronic EFCAB5 NA NA NA intronic ENSG00000176927 NA NA NA NA NA 17q11.2 NA NA NA NA rs8065059 0.52 0.52 0.537 0.544728 0.5646 0.1806 0.4741 0.916 0.4479 0.55 0.18 0.48 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420993 NA NA NA NA NA 0.449 NA 3.4354 1308 18 47317767 47317767 C T intronic ACAA2 NA NA NA intronic ENSG00000167315 NA NA NA NA NA 18q21.1 NA NA NA NA rs529556 0.46 0.46 0.463 0.438498 0.5646 0.2698 0.3732 0.5673 0.3548 0.55 0.27 0.43 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.393186 3.393186 NA NA NA NA 0.457 NA 3.4354 1308 7 29944062 29944062 A T intronic WIPF3 NA NA NA UTR3 ENSG00000122574 ENST00000409123:c.*60A>T,ENST00000242140:c.*60A>T NA NA NA NA 7p14.3 NA NA NA NA rs4722959 0.69 0.69 0.687 0.707468 0.7316 0.8899 0.732 0.4327 0.8487 0.73 0.85 0.72 0.42 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742977 NA NA NA NA NA 0.652 NA 3.4350667 1309 6 42934500 42934500 C T intronic PEX6 NA NA NA intronic ENSG00000124587 NA NA NA NA NA 6p21.1 NA NA NA NA rs2274514 0.48 0.48 0.513 0.49381 0.5447 0.1696 0.428 0.7617 0.4601 0.55 0.19 0.43 0.76 0.491 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952503 NA NA 0.529302 0.731502 NA 0.58 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078568.1;CLNDSDB=.;CLNDSDBID=. 3.434998 1309 9 110249505 110249505 C T intronic KLF4 NA NA NA intronic ENSG00000136826 NA NA NA NA NA 9q31.2 NA NA NA NA rs2236599 0.18 0.18 0.159 0.140176 0.1948 0.2927 0.1758 0.0091 0.0787 0.2 0.27 0.21 0.01 0.1825 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.953835 NA NA 0.187907 0.036087 NA 0.13 NA 3.434793 1309 3 124462710 124462710 G C intronic UMPS NA NA NA intronic ENSG00000114491 NA NA NA NA NA 3q21.2 NA NA NA NA rs3772807 0.27 0.27 0.247 0.242812 0.2873 0.3671 0.2781 0.1271 0.2004 0.29 0.33 0.3 0.15 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137868 NA NA 0.278001 0.183219 NA 0.167 NA 3.434699 1309 1 116260604 116260604 G A intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA NA NA NA rs2997742 0.63 0.63 0.625 0.630591 0.5656 0.6706 0.6326 0.6626 0.6115 0.58 0.68 0.64 0.65 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.866262 NA NA NA NA NA 0.732 NA 3.4344 1309 15 57896311 57896311 T G intronic GCOM1,MYZAP NA NA NA intronic ENSG00000137878,ENSG00000255529,ENSG00000263155 NA NA NA NA NA 15q21.3 NA NA NA NA rs7163748 0.48 0.48 0.487 0.445088 0.5656 0.4464 0.3977 0.3805 0.4407 0.56 0.47 0.41 0.4 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177609 NA NA NA NA NA 0.478 NA 3.4344 1309 15 62239304 62239304 A T intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs7166891 0.64 0.64 0.642 0.674121 0.5656 0.7619 0.585 0.7042 0.7178 0.56 0.75 0.54 0.7 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41506 NA NA NA NA NA 0.674 NA 3.4344 1309 18 31312106 31312106 T C intronic ASXL3 NA NA NA intronic ENSG00000141431 NA NA NA NA NA 18q12.1 NA NA NA NA rs10432168 0.78 0.78 0.802 0.798323 0.5656 0.9772 0.7565 0.9818 0.635 0.56 0.98 0.7 0.96 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553215 NA NA NA NA NA 0.819 NA 3.4344 1309 19 33695830 33695830 G A intronic LRP3 NA NA NA intronic ENSG00000130881 NA NA NA NA NA 19q13.11 NA NA NA NA rs11666900 0.27 0.27 0.227 0.218051 0.5656 0.0347 0.2853 0.0227 0.2658 0.57 0.03 0.34 0.03 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172081 NA NA NA NA NA 0.304 NA 3.4344 1309 19 39976684 39976684 T C intronic TIMM50 NA NA NA intronic ENSG00000105197 NA NA NA NA NA 19q13.2 NA NA NA NA rs4803246 0.6 0.6 0.611 0.640575 0.5656 0.5754 0.5331 0.7995 0.6462 0.57 0.51 0.55 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479328 NA NA NA NA NA 0.536 NA 3.4344 1309 2 86107987 86107987 T C intronic ST3GAL5 NA NA NA intronic ENSG00000115525 NA NA NA NA NA 2p11.2 NA Name=TAL1_(SC-12984) NA NA rs11127009 0.6 0.6 0.604 0.580871 0.505 0.6885 0.6398 0.6324 0.4366 0.52 0.69 0.57 0.62 0.5391 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347779 NA NA 0.521597 0.628995 NA 0.449 NA 3.434303 1309 4 160251451 160251451 A G intronic RAPGEF2 NA NA NA intronic ENSG00000109756 NA NA NA NA NA 4q32.1 NA NA NA NA rs56024370 0.19 0.19 0.021 0.230831 0.3757 0.0159 0.2853 0.2065 0.2975 0.34 0.01 0.31 0.09 0.0977 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831941 NA NA 0.09233 0.0312 NA NA NA 3.43427 1309 12 121603118 121603118 T C intronic P2RX7 NA NA NA intronic ENSG00000089041 NA NA NA NA NA 12q24.31 NA NA NA NA rs507085 0.22 0.22 NA 0.253395 0.2863 0.13 0.1671 0.3389 0.2924 0.27 0.12 0.16 0.31 0.2795 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696012 NA NA NA NA NA 0.232 NA 3.4342 1309 12 121603122 121603122 C A intronic P2RX7 NA NA NA intronic ENSG00000089041 NA NA NA NA NA 12q24.31 NA NA NA NA rs654856 0.22 0.22 NA 0.253395 0.2863 0.13 0.1671 0.3389 0.2924 0.27 0.12 0.16 0.32 0.2795 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211699 NA NA NA NA NA 0.232 NA 3.4342 1309 2 232389744 232389744 A G UTR3 NMUR1 NM_006056:c.*10T>C NA NA UTR3 ENSG00000171596 ENST00000305141:c.*10T>C NA NA NA NA 2q37.1 NA NA NA NA rs3752762 0.33 0.33 0.299 0.35004 0.2763 0.5099 0.4207 0.152 0.4785 0.28 0.49 0.41 0.18 0.3418 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.492641 1.492641 NA 0.281163 0.159555 NA 0.319 NA 3.4340704 1309 12 26580814 26580814 T C intronic ITPR2 NA NA NA intronic ENSG00000123104 NA NA NA NA NA 12p11.23 NA NA NA NA rs1818135 0.3 0.3 0.281 0.288938 0.161 0.4117 0.3948 0.2405 0.2843 0.16 0.44 0.39 0.28 0.2511 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873429 NA NA 0.154234 0.209167 NA 0.246 NA 3.433666 1309 8 63508416 63508416 G A intronic NKAIN3 NA NA NA intronic ENSG00000185942 NA NA NA NA NA 8q12.3 NA NA NA NA rs10957228 0.44 0.44 0.423 0.415935 0.5666 0.4355 0.5245 0.146 0.5286 0.57 0.43 0.51 0.19 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66934 NA NA NA NA NA 0.428 NA 3.4334 1309 12 131498995 131498995 G A intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs1195923 0.52 0.52 0.52 0.496206 0.5666 0.7788 0.3674 0.2352 0.5767 0.56 0.82 0.37 0.24 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368898 NA NA NA NA NA 0.478 NA 3.4334 1309 15 85438118 85438118 T G intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA NA NA NA rs7166433 0.44 0.44 0.334 0.396166 0.5666 0.2192 0.4942 0.4357 0.2802 0.54 0.23 0.5 0.48 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202527 NA NA NA NA NA 0.326 NA 3.4334 1309 17 16046845 16046845 A T intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p11.2 NA NA NA NA rs2285579 0.51 0.51 0.498 0.509984 0.5666 0.2262 0.5245 0.7557 0.4018 0.57 0.21 0.53 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314835 NA NA NA NA NA 0.529 NA 3.4334 1309 17 53007655 53007655 T G intronic TOM1L1 NA NA NA intronic ENSG00000141198 NA NA NA NA NA 17q22 NA NA NA NA rs12939352 0.48 0.48 0.464 0.506789 0.5666 0.3601 0.4063 0.5825 0.5654 0.57 0.32 0.45 0.54 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180455 NA NA NA NA NA 0.551 NA 3.4334 1309 15 42129168 42129168 A T intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA NA NA rs7165230 0.21 0.21 0.23 0.223043 0.1829 0.122 0.1744 0.3593 0.2188 0.18 0.13 0.19 0.39 0.1949 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585337 NA NA 0.189001 0.324936 NA 0.29 NA 3.433199 1309 19 52002493 52002493 T A intronic SIGLEC12 NA NA NA intronic ENSG00000254521 NA NA NA NA NA 19q13.41 NA NA NA NA rs59372820 0.17 0.17 0.168 0.16234 0.2028 0.0437 0.1254 0.2799 0.1104 0.19 0.05 0.14 0.29 0.1738 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792497 NA NA 0.190465 0.252837 ID=COSN165895;OCCURENCE=1(breast) 0.283 NA 3.432935 1309 1 58946861 58946861 T G intronic OMA1 NA NA NA intronic ENSG00000162600 NA NA NA NA NA 1p32.2 NA NA NA NA rs12144759 0.16 0.16 0.179 0.151358 0.1819 0.0486 0.111 0.2307 0.1472 0.19 0.06 0.11 0.25 0.2064 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77106 NA NA 0.178831 0.231098 NA 0.203 NA 3.432869 1309 1 111661528 111661528 T C intronic DRAM2 NA NA NA intronic ENSG00000156171 NA NA NA NA NA 1p13.3 NA NA NA NA rs325917 0.28 0.28 0.274 0.328474 0.1521 0.2808 0.2536 0.4682 0.4233 0.14 0.3 0.25 0.47 0.2599 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.970879 NA NA 0.155465 0.412767 NA 0.355 NA 3.432535 1309 4 108935770 108935770 T C intronic HADH NA NA NA intronic ENSG00000138796 NA NA NA NA NA 4q25 NA NA NA NA rs7677408 0.73 0.73 0.74 NA NA NA NA NA NA 0.76 0.71 0.83 0.64 0.5675 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314854 NA NA NA NA NA 0.812 NA 3.4325 1309 16 1691106 1691106 T C intronic CRAMP1L NA NA NA intronic ENSG00000007545,ENSG00000261732 NA NA NA NA NA 16p13.3 NA NA NA NA rs2072986 0.41 0.41 0.424 0.447484 0.1471 0.5903 0.3242 0.6997 0.3558 0.14 0.59 0.3 0.69 0.2742 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199619 NA NA 0.146229 0.611111 NA 0.355 NA 3.432471 1309 4 10027643 10027643 A G intronic SLC2A9 NA NA NA intronic ENSG00000109667 NA NA NA NA NA 4p16.1 NA NA NA NA rs6449237 0.27 0.27 0.271 0.266973 0.2932 0.0952 0.2161 0.5514 0.0685 0.27 0.09 0.22 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040156 NA NA 0.274356 0.494942 NA 0.326 NA 3.432444 1309 14 106363748 106363748 C T intergenic ELK2AP,KIAA0125 dist=224604;dist=20090 NA NA downstream ENSG00000211918 NA NA NA NA NA 14q32.33 NA NA NA NA rs9671626 0.15 0.15 0.03 0.174521 0.0676 0.2044 0.1354 0.2995 0.1125 0.06 0.16 0.14 0.27 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161721 NA NA NA NA NA 0.058 NA 3.4324 1309 19 9020211 9020211 C T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs11882373 0.69 0.69 0.689 0.690096 0.5676 0.7242 0.7003 0.8381 0.5736 0.57 0.71 0.66 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.424518 NA NA NA NA NA 0.703 NA 3.4324 1309 16 31335906 31335906 T C intronic ITGAM NA NA NA intronic ENSG00000169896 NA NA NA NA NA 16p11.2 NA NA NA NA rs41476751 0.23 0.23 0.241 0.290535 0.1819 0.0278 0.1643 0.6558 0.2689 0.18 0.0017 0.16 0.64 0.2253 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110534 NA NA 0.160416 0.537325 NA 0.261 NA 3.432384 1309 15 63908587 63908587 G T intronic HERC1 NA NA NA intronic ENSG00000103657 NA NA NA NA NA 15q22.31 NA NA NA NA rs62012820 0.1 0.1 0.103 0.0970447 0.2127 0.001 0.1037 0.0053 0.1963 0.23 0.0017 0.13 0.01 0.1611 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102252 NA NA 0.194041 0.035208 NA 0.058 NA 3.432159 1309 19 2098015 2098015 T C intronic IZUMO4 NA NA NA intronic ENSG00000099840 NA NA NA NA NA 19p13.3 NA NA NA NA rs7253456 0.22 0.22 0.201 0.254593 0.1889 0.2054 0.2017 0.3003 0.3487 0.17 0.2 0.22 0.3 0.2085 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064408 NA NA 0.171086 0.29369 NA 0.167 NA 3.431514 1309 11 65302893 65302893 G A intronic SCYL1 NA NA NA intronic ENSG00000142186 NA NA NA NA NA 11q13.1 NA NA NA NA rs947791 0.18 0.18 0.197 0.146965 0.1948 0.1746 0.1326 0.1354 0.0951 0.19 0.19 0.17 0.15 0.1644 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463794 NA NA 0.209374 0.144959 NA 0.145 NA 3.431426 1309 1 32155284 32155284 T C intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297682 0.49 0.49 0.492 0.478435 0.5686 0.2302 0.3473 0.7761 0.3323 0.56 0.18 0.4 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.468238 1.468238 NA NA NA NA 0.536 NA 3.4314 1309 1 150999863 150999863 A G intronic PRUNE NA NA NA intronic ENSG00000143363 NA NA NA NA NA 1q21.3 NA NA NA NA rs55717234 0.42 0.42 0.429 0.48103 0.5686 0.2629 0.3963 0.4592 0.7055 0.58 0.21 0.38 0.45 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439181 NA NA NA NA NA 0.609 NA 3.4314 1309 2 70481171 70481171 G A intergenic TIA1,PCYOX1 dist=5392;dist=4060 NA NA upstream ENSG00000231414 NA NA NA NA NA 2p13.3 NA NA NA NA rs75670342 0.08 0.08 0.067 0.0734824 0.0686 0.1637 0.0778 0.0303 0.0409 0.07 0.16 0.05 0.03 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864167 NA NA NA NA NA 0.072 NA 3.4314 1309 2 71816602 71816602 G C intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs3811611 0.64 0.64 0.633 0.604633 0.5686 0.7192 0.598 0.6407 0.4796 0.56 0.75 0.62 0.63 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824267 NA NA NA NA NA 0.674 NA 3.4314 1309 4 70284911 70284911 T A intergenic UGT2B28,UGT2B4 dist=124143;dist=60972 NA NA ncRNA_intronic ENSG00000249956 NA NA NA NA NA 4q13.2 NA NA NA NA rs2642838 0.49 0.49 0.439 0.478435 0.5686 0.4921 0.5086 0.3548 0.5174 0.57 0.48 0.49 0.36 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695139 NA NA NA NA NA 0.196 NA 3.4314 1309 6 168272817 168272817 T C intronic MLLT4 NA NA NA intronic ENSG00000130396 NA NA NA NA NA 6q27 NA NA NA NA rs2073651 0.46 0.46 0.476 0.432308 0.5686 0.2063 0.4308 0.5832 0.3221 0.55 0.22 0.43 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282862 NA NA NA NA NA 0.558 NA 3.4314 1309 7 87174066 87174066 T C intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs2235046 0.56 0.56 0.573 0.557508 0.5686 0.37 0.5879 0.7973 0.3937 0.56 0.35 0.56 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596885 NA NA NA NA ID=COSN168135;OCCURENCE=1(large_intestine) 0.587 NA 3.4314 1309 8 2024437 2024437 C T intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs3817699 0.64 0.64 0.634 0.641573 0.5686 0.5813 0.5994 0.8873 0.4765 0.56 0.61 0.56 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437175 NA NA NA NA NA 0.594 NA 3.4314 1309 10 96967298 96967298 T G intronic C10orf129 NA NA NA intronic ENSG00000173124 NA NA NA NA NA 10q23.33 NA NA NA NA rs815250 0.39 0.39 0.414 0.395966 0.5686 0.0466 0.3862 0.497 0.4489 0.56 0.05 0.45 0.5 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328967 NA NA NA NA NA 0.362 NA 3.4314 1309 17 20678899 20678899 G A intergenic LOC100287072,CCDC144NL dist=37721;dist=87809 NA NA upstream ENSG00000213671 NA NA NA NA NA 17p11.2 NA NA NA NA rs111627402 0.03 0.03 0.019 0.0247604 0.0686 NA 0.049 0.0015 0.0194 0.07 NA 0.06 0.0041 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639598 NA NA NA NA NA 0.072 NA 3.4314 1309 1 168545949 168545949 G A intronic XCL1 NA NA NA intronic ENSG00000143184 NA NA NA NA NA 1q24.2 NA NA NA NA rs34933908 0.56 0.56 0.57 NA NA NA NA NA NA 0.66 0.35 0.54 0.65 0.5688 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26076 NA NA NA NA NA 0.304 NA 3.4312 1309 13 48671081 48671081 A G intergenic MED4,ITM2B dist=1804;dist=136193 NA NA intergenic ENSG00000136146,ENSG00000224510 dist=1814;dist=37413 NA NA NA NA 13q14.2 NA Name=NANOG_(SC-33759) Name=15 NA rs1571256 0.49 0.49 0.479 0.451677 0.662 0.5754 0.5346 0.112 0.5082 0.66 0.54 0.57 0.14 0.5917 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474144 NA NA 0.64892 0.21347 NA 0.435 NA 3.4307134 1309 2 90218693 90218693 C G intergenic MIR4436A,LOC654342 dist=1106725;dist=1606016 NA NA upstream ENSG00000253906 NA NA NA NA NA 2p11.2 NA NA NA NA rs113047934 0.04 0.04 0.023 0.0375399 0.0696 0.0069 0.0476 0.0053 0.0726 0.08 0.01 0.02 0.01 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903541 NA NA NA NA NA 0.014 NA 3.4304 1309 4 70288522 70288522 A G intergenic UGT2B28,UGT2B4 dist=127754;dist=57361 NA NA ncRNA_intronic ENSG00000249956 NA NA NA NA NA 4q13.2 NA NA NA NA rs2254718 0.51 0.51 0.473 0.50619 0.5696 0.4861 0.513 0.4599 0.5194 0.57 0.48 0.5 0.45 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03507 NA NA NA NA NA 0.449 NA 3.4304 1309 4 85555196 85555196 G A intronic CDS1 NA NA NA intronic ENSG00000163624 NA NA NA NA NA 4q21.23 NA NA NA NA rs13102661 0.51 0.51 0.507 0.533546 0.5696 0.627 0.5576 0.2731 0.7352 0.56 0.62 0.52 0.3 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01413 NA NA NA NA NA 0.457 NA 3.4304 1309 16 58571185 58571185 C T intronic CNOT1 NA NA NA intronic ENSG00000125107 NA NA NA NA NA 16q21 NA NA NA NA rs2244453 0.79 0.79 0.814 0.819289 0.5696 0.9712 0.7435 0.9546 0.7904 0.59 0.98 0.71 0.95 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826983 NA NA NA NA NA 0.768 NA 3.4304 1309 21 45076373 45076373 A G intronic HSF2BP NA NA NA intronic ENSG00000160207 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838340 0.53 0.53 0.5 0.516773 0.5696 0.7123 0.5591 0.2489 0.593 0.56 0.69 0.59 0.27 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662474 NA NA NA NA NA 0.493 NA 3.4304 1309 8 2050596 2050596 A G intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs2294072 0.28 0.28 0.263 0.25599 0.1859 0.2847 0.232 0.3918 0.1319 0.19 0.3 0.27 0.39 0.2159 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531618 NA NA 0.16814 0.360418 NA 0.232 NA 3.43006 1309 10 27065976 27065976 G A intronic ABI1 NA NA NA intronic ENSG00000136754 NA NA NA NA NA 10p12.1 NA NA NA NA rs7096584 0.22 0.22 0.204 0.211462 0.1819 0.1151 0.281 0.3616 0.089 0.18 0.09 0.23 0.4 0.2013 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894124 NA NA 0.186744 0.350658 NA 0.275 NA 3.430056 1309 12 71029431 71029431 C T intronic PTPRB NA NA NA intronic ENSG00000127329 NA NA NA NA NA 12q15 NA NA NA NA rs2717417 0.39 0.39 0.406 0.467652 0.1223 0.5218 0.3977 0.7156 0.4816 0.12 0.52 0.34 0.71 0.2885 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564015 NA NA 0.159429 0.605962 NA 0.362 NA 3.429771 1309 9 14770825 14770825 T C intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA NA NA rs7860370 0.14 0.14 0.125 0.150958 0.171 0.2212 0.1542 0.0061 0.2515 0.18 0.22 0.13 0.01 0.2159 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529629 NA NA 0.183426 0.035751 NA 0.116 NA 3.429674 1309 2 29356728 29356728 T C intronic CLIP4 NA NA NA intronic ENSG00000115295 NA NA NA NA NA 2p23.2 NA NA NA NA rs3768674 0.24 0.24 0.253 0.236022 0.1928 0.249 0.134 0.3737 0.1534 0.2 0.27 0.15 0.33 0.1958 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.347373 3.347373 NA 0.181744 0.317439 NA 0.304 NA 3.429656 1309 1 196967458 196967458 G T intronic CFHR5 NA NA NA intronic ENSG00000134389 NA NA NA NA NA 1q31.3 NA NA NA NA rs1332664 0.3 0.3 0.226 0.30611 0.175 0.6667 0.4265 0.0507 0.3292 0.17 0.65 0.34 0.07 0.2483 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684486 NA NA 0.147045 0.055606 NA 0.225 NA 3.429655 1309 7 926077 926077 G A intronic GET4 NA NA NA intronic ENSG00000164828,ENSG00000239857 NA NA NA NA NA 7p22.3 NA NA NA NA rs10267796 0.56 0.56 0.562 0.529952 0.5706 0.5546 0.5937 0.466 0.5041 0.58 0.53 0.58 0.52 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474744 NA NA NA NA NA 0.681 NA 3.4294 1309 8 133995475 133995475 A G intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs10105779 0.5 0.5 0.514 0.485224 0.5706 0.1984 0.3991 0.7693 0.3701 0.57 0.22 0.45 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321768 NA NA NA NA NA 0.572 NA 3.4294 1309 9 73250037 73250037 C T intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs4322073 0.41 0.41 0.391 0.392772 0.5706 0.3036 0.4337 0.2126 0.5164 0.56 0.34 0.5 0.21 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.802476 2.802476 NA NA NA NA 0.413 NA 3.4294 1309 19 54783077 54783077 C G intronic LILRB2 NA NA NA intronic ENSG00000131042 NA NA NA NA NA 19q13.42 NA NA NA NA rs7250635 0.31 0.31 0.26 0.340056 0.5706 0.1161 0.379 0.2632 0.41 0.53 0.05 0.38 0.23 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716091 NA NA NA NA NA 0.348 NA 3.4294 1309 20 33508588 33508588 G T intronic ACSS2 NA NA NA intronic ENSG00000131069 NA NA NA NA NA 20q11.22 NA NA NA NA rs3746450 0.48 0.48 0.479 0.515176 0.5706 0.4345 0.353 0.4387 0.7597 0.59 0.42 0.41 0.41 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015412 NA NA NA NA NA 0.594 NA 3.4294 1309 10 26356014 26356014 C T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3824698 0.37 0.37 0.342 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.5 0.28 0.33 0.28 0.4816 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991185 NA NA 0.527442 0.34158 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039020.1;CLNDSDB=.;CLNDSDBID=. 3.429358 1309 1 16388737 16388737 G A intronic FAM131C NA NA NA intronic ENSG00000185519 NA NA NA NA NA 1p36.13 NA NA NA NA rs3978468 0.25 0.25 0.21 NA NA NA NA NA NA 0.3 0.01 0.39 0.35 0.2895 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319253 NA NA 0.281295 0.307953 NA 0.022 NA 3.429205 1309 14 88407917 88407917 G A intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA NA NA 14q31.3 NA NA NA NA rs12432149 0.51 0.51 0.46 0.488818 0.5119 0.6994 0.6052 0.1808 0.5818 0.53 0.72 0.59 0.18 0.5413 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.500104 NA NA 0.517831 0.239024 NA 0.507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078193.1;CLNDSDB=.;CLNDSDBID=. 3.428969 1309 4 15717321 15717321 G A intronic BST1 NA NA NA intronic ENSG00000109743 NA NA NA Score=451;Name=lod=91 NA 4p15.32 NA NA NA NA rs3213710 0.44 0.44 0.423 0.44349 0.5308 0.4266 0.5749 0.2315 0.5644 0.54 0.43 0.53 0.25 0.5174 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.23843 2.23843 NA 0.523029 0.27054 NA 0.413 NA 3.428771 1309 17 78938011 78938011 C A intronic RPTOR NA NA NA intronic ENSG00000141564 NA NA NA NA NA 17q25.3 NA NA NA NA rs3751937 0.18 0.18 0.154 0.18131 0.2078 0.1766 0.1931 0.1354 0.2127 0.2 0.16 0.2 0.15 0.18 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173252 NA NA 0.183605 0.167652 NA 0.174 NA 3.428595 1309 12 133433240 133433240 C T intronic CHFR NA NA NA intronic ENSG00000072609 NA NA NA NA NA 12q24.33 NA NA NA NA rs11147110 0.14 0.14 0.114 0.143371 0.2008 0.1171 0.255 0.0098 0.2127 0.21 0.1 0.24 0.01 0.1892 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591479 NA NA 0.181512 0.043804 ID=COSN164420;OCCURENCE=1(breast) 0.072 NA 3.428488 1309 4 99966568 99966568 G C intronic METAP1 NA NA NA intronic ENSG00000164024 NA NA NA NA NA 4q23 NA NA NA NA rs11721765 0.37 0.37 0.361 0.411542 0.5716 0.1815 0.4107 0.2784 0.6646 0.57 0.16 0.45 0.27 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878467 NA NA NA NA NA 0.348 NA 3.4284 1309 16 70732483 70732483 G A intronic VAC14 NA NA NA intronic ENSG00000103043 NA NA NA NA NA 16q22.1 NA NA NA NA rs7201952 0.33 0.33 0.301 0.273762 0.5716 0.1379 0.4654 0.0333 0.2965 0.6 0.13 0.46 0.04 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793881 NA NA NA NA ID=COSN165248;OCCURENCE=1(breast) 0.275 NA 3.4284 1309 17 15909728 15909728 A G intronic TTC19 NA NA NA intronic ENSG00000011295 NA NA NA NA NA 17p12 NA NA NA NA rs3760297 0.51 0.51 0.505 0.534545 0.5716 0.2748 0.5216 0.7005 0.5491 0.57 0.25 0.52 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790109 NA NA NA NA ID=COSN165344;OCCURENCE=1(breast) 0.486 NA 3.4284 1309 20 5283256 5283256 C G exonic PROKR2 NA synonymous SNV PROKR2:NM_144773:exon2:c.G585C:p.T195T exonic ENSG00000101292 NA synonymous SNV ENSG00000101292:ENST00000217270:exon2:c.G585C:p.T195T,ENSG00000101292:ENST00000546004:exon3:c.G585C:p.T195T NA NA 20p12.3 NA NA NA NA rs3746682 0.73 0.73 0.724 0.723243 0.7505 0.6627 0.745 0.705 0.7669 0.76 0.64 0.77 0.74 0.7435 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021193 NA NA 0.744302 0.716977 NA 0.652 NA 3.4283646 1309 19 376008 376008 C T UTR5 THEG NM_199202:c.-38G>A,NM_016585:c.-38G>A NA NA UTR5 ENSG00000105549 ENST00000342640:c.-38G>A NA NA NA NA 19p13.3 NA NA NA NA rs1549697 0.32 0.32 0.334 0.370807 0.3062 0.1399 0.2608 0.621 0.4151 0.29 0.16 0.3 0.58 0.3137 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370687 NA NA 0.285265 0.559159 NA 0.457 NA 3.4281684 1309 1 1900339 1900339 A G intronic KIAA1751 NA NA NA intergenic ENSG00000142609,ENSG00000142609 dist=2374;dist=19062 NA NA NA NA 1p36.33 NA NA NA NA rs56126097 0.22 0.22 0.155 0.180511 0.2386 0.2718 0.1974 0.0991 0.1247 0.24 0.3 0.21 0.1 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022238 NA NA NA NA NA 0.217 NA 3.4280667 1309 19 52471813 52471813 T C intronic ZNF350 NA NA NA ncRNA_intronic ENSG00000269235 NA NA NA NA NA 19q13.41 NA NA NA NA rs2278419 0.38 0.38 0.395 0.458067 0.2962 0.2966 0.3012 0.677 0.6063 0.31 0.27 0.33 0.67 0.3441 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154127 NA NA 0.265 0.624376 NA 0.384 NA 3.4280333 1309 12 10599270 10599270 G A intronic KLRC1 NA NA NA intronic ENSG00000134545 NA NA NA NA NA 12p13.2 NA NA NA NA rs7314384 0.25 0.25 0.252 0.263578 0.1779 0.2212 0.1599 0.5257 0.1145 0.18 0.19 0.19 0.48 0.2008 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778999 NA NA 0.193417 0.480027 NA 0.203 NA 3.427883 1309 17 3424220 3424220 A G intronic TRPV3 NA NA NA intronic ENSG00000167723 NA NA NA NA NA 17p13.2 NA NA NA NA rs72634011 0.28 0.28 0.248 0.265775 0.1839 0.5823 0.2867 0.0386 0.316 0.2 0.61 0.25 0.04 0.2217 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.015159 3.015159 NA 0.16655 0.065742 NA 0.036 NA 3.42785 1309 6 31106177 31106177 T C intronic PSORS1C1,PSORS1C2 NA NA NA UTR5 ENSG00000204540 ENST00000547221:c.-357T>C,ENST00000481450:c.-1263T>C NA NA NA NA 6p21.33 NA NA NA NA rs1265098 0.21 0.21 0.161 0.187899 0.2694 0.1399 0.2176 0.1725 0.1534 0.27 0.13 0.25 0.16 0.2258 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002532 NA NA 0.243817 0.174172 NA 0.217 NA 3.4276497 1309 3 155829377 155829377 T C intergenic GMPS,KCNAB1 dist=173857;dist=8960 NA NA ncRNA_exonic ENSG00000242537 NA NA NA NA NA 3q25.31 NA NA NA NA rs1488426 0.53 0.53 0.468 0.474441 0.5726 0.7113 0.7061 0.112 0.455 0.57 0.73 0.67 0.14 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086359 NA NA NA NA NA 0.507 NA 3.4274 1309 5 42893019 42893019 T C intergenic SEPP1,LOC648987 dist=80995;dist=121812 NA NA upstream ENSG00000249092 NA NA NA NA NA 5p12 NA NA NA NA rs72759059 0.06 0.06 0.053 0.057508 0.0726 0.006 0.072 0.093 0.0368 0.07 0.0035 0.09 0.08 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103134 NA NA NA NA NA 0.08 NA 3.4274 1309 15 31357138 31357138 A G intronic TRPM1 NA NA NA intronic ENSG00000134160 NA NA NA NA NA 15q13.3 NA NA NA NA rs919001 0.63 0.63 0.605 0.578275 0.5726 0.7956 0.5159 0.531 0.4683 0.58 0.84 0.51 0.53 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434359 NA NA NA NA NA 0.543 NA 3.4274 1309 16 75448659 75448659 A G intronic CFDP1 NA NA NA intronic ENSG00000153774,ENSG00000261717 NA NA NA NA NA 16q23.1 NA NA NA NA rs8051407 0.52 0.52 0.487 0.497604 0.5726 0.5456 0.6729 0.3147 0.4939 0.57 0.53 0.62 0.37 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.783016 1.783016 NA NA NA NA 0.449 NA 3.4274 1309 18 43329590 43329590 T G intronic SLC14A1 NA NA NA intronic ENSG00000141469 NA NA NA NA NA 18q12.3 NA NA NA NA rs3745006 0.46 0.46 0.431 0.423722 0.5726 0.5069 0.4813 0.2322 0.4029 0.57 0.5 0.48 0.25 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52377 NA NA NA NA NA 0.428 NA 3.4274 1309 2 113887294 113887294 G C intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs495282 0.18 0.18 0.148 0.191693 0.2922 0.0942 0.3314 0.0333 0.3037 0.29 0.08 0.33 0.04 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042017 NA NA 0.280641 0.060694 NA 0.246 NA 3.427159 1309 14 20764031 20764031 C T intronic TTC5 NA NA NA intronic ENSG00000136319 NA NA NA NA NA 14q11.2 NA NA NA NA rs4981148 0.12 0.12 0.098 0.121006 0.1899 0.1091 0.0879 0.031 0.2076 0.19 0.1 0.11 0.03 0.1753 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17016 NA NA 0.207791 0.055833 NA 0.116 NA 3.427009 1309 19 10080410 10080410 C G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2277965 0.16 0.16 0.134 0.136581 0.1809 0.2252 0.1196 0.0393 0.1431 0.18 0.26 0.13 0.03 0.1864 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.885925 1.885925 NA 0.206023 0.07046 NA 0.138 NA 3.426677 1309 10 15263100 15263100 C T intronic FAM171A1 NA NA NA intronic ENSG00000148468 NA NA NA NA NA 10p13 NA NA NA NA rs6602828 0.22 0.22 0.225 0.221645 0.2008 0.37 0.1499 0.174 0.2055 0.2 0.36 0.14 0.15 0.1876 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.130808 2.130808 NA 0.185 0.172719 NA 0.167 NA 3.4266 1309 1 111854223 111854223 C T intronic CHIA NA NA NA intronic ENSG00000134216 NA NA NA NA NA 1p13.2 NA NA NA NA rs6537695 0.62 0.62 0.576 0.577875 0.5736 0.8442 0.7262 0.3381 0.5266 0.57 0.85 0.68 0.39 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644617 NA NA NA NA NA 0.486 NA 3.4264 1309 9 100965472 100965472 C T intronic TBC1D2 NA NA NA intronic ENSG00000095383 NA NA NA NA NA 9q22.33 NA NA NA NA rs3739667 0.64 0.64 0.658 0.633786 0.5736 0.4931 0.5821 0.9062 0.5092 0.57 0.53 0.6 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26782 NA NA NA NA NA 0.565 NA 3.4264 1309 9 132980035 132980035 G A intronic NCS1 NA NA NA intronic ENSG00000107130 NA NA NA NA NA 9q34.11 NA NA NA NA rs2277198 0.57 0.57 0.552 0.594249 0.5736 0.873 0.4164 0.3918 0.728 0.59 0.85 0.4 0.34 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445919 NA NA NA NA NA 0.493 NA 3.4264 1309 16 58573946 58573946 C T intronic CNOT1 NA NA NA intronic ENSG00000125107 NA NA NA NA NA 16q21 NA NA NA NA rs246195 0.78 0.78 0.793 0.798522 0.5736 0.9712 0.732 0.879 0.7904 0.59 0.98 0.7 0.87 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473199 NA NA NA NA NA 0.768 NA 3.4264 1309 17 26081964 26081964 A G intergenic LGALS9,NOS2 dist=105378;dist=1828 NA NA ncRNA_exonic ENSG00000266786 NA NA NA NA NA 17q11.2 NA NA NA NA rs8081248 0.68 0.68 0.692 0.722045 0.5736 0.6687 0.634 0.8374 0.8364 0.57 0.69 0.66 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567621 NA NA NA NA NA 0.855 NA 3.4264 1309 19 14878003 14878003 C T intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs7256892 0.6 0.6 0.591 0.580671 0.5736 0.4653 0.6398 0.789 0.3834 0.56 0.48 0.64 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926152 NA NA NA NA NA 0.659 NA 3.4264 1309 20 33604042 33604042 T C intronic TRPC4AP NA NA NA intronic ENSG00000100991 NA NA NA NA NA 20q11.22 NA NA NA NA rs3736802 0.59 0.59 0.566 0.554313 0.5736 0.6786 0.7133 0.472 0.4049 0.57 0.68 0.65 0.46 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277685 NA NA NA NA NA 0.399 NA 3.4264 1309 21 31803210 31803210 C T downstream KRTAP13-4 NA NA NA UTR3 ENSG00000186971 ENST00000334068:c.*134C>T NA NA NA NA 21q22.11 NA NA NA NA rs1539784 0.52 0.52 0.526 0.550919 0.5736 0.2748 0.6427 0.6452 0.6196 0.55 0.29 0.65 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41826 NA NA NA NA NA 0.638 NA 3.4264 1309 7 1476520 1476520 C A intronic MICALL2 NA NA NA intronic ENSG00000164877 NA NA NA NA NA 7p22.3 NA NA NA NA rs60306276 0.24 0.24 0.234 0.254792 0.1421 0.0288 0.3084 0.562 0.1503 0.14 0.04 0.3 0.57 0.2771 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049847 NA NA 0.154601 0.447993 NA 0.21 NA 3.426199 1309 19 47658482 47658482 G A intronic SAE1 NA NA NA intronic ENSG00000142230 NA NA NA NA NA 19q13.32 NA NA NA NA rs11670191 0.22 0.22 0.213 0.210463 0.1938 0.3681 0.2061 0.0968 0.2219 0.19 0.4 0.17 0.09 0.1923 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276413 NA NA 0.187791 0.092147 ID=COSN165857;OCCURENCE=1(breast) 0.145 NA 3.426109 1309 11 56510243 56510243 A G downstream OR9G4 NA NA NA downstream ENSG00000172457 NA NA NA NA NA 11q12.1 NA NA NA NA rs11228762 0.41 0.41 0.388 0.438299 0.2406 0.62 0.5086 0.3654 0.5031 0.23 0.61 0.48 0.41 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88767 NA NA NA NA NA 0.406 NA 3.4260666 1309 20 6093090 6093090 G A intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs2326719 0.24 0.24 0.225 0.228634 0.1899 0.4692 0.3112 0.0408 0.2157 0.18 0.49 0.28 0.03 0.1984 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095557 NA NA 0.185857 0.064458 NA 0.246 NA 3.425843 1309 12 57323388 57323388 C G intronic SDR9C7 NA NA NA intronic ENSG00000170426 NA NA NA NA NA 12q13.3 NA NA NA NA rs7970701 0.29 0.29 0.292 0.293331 0.1889 0.2808 0.2205 0.5227 0.1554 0.2 0.27 0.23 0.48 0.2078 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026599 NA NA 0.177558 0.454607 NA 0.254 NA 3.425742 1309 11 5905412 5905412 C T upstream OR52E4 NA NA NA intronic ENSG00000132256 NA NA NA NA NA 11p15.4 NA NA NA NA rs17233457 0.37 0.37 0.348 0.348842 0.4076 0.3631 0.4006 0.2905 0.316 0.42 0.35 0.42 0.26 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344322 NA NA NA NA NA 0.355 NA 3.4257333 1309 14 22968797 22968797 G A intergenic OR4E2,DAD1 dist=834559;dist=65010 NA NA downstream ENSG00000211849 NA NA NA NA NA 14q11.2 NA NA NA NA rs61272337 0.04 0.04 0.033 0.0453275 0.0348 0.002 0.0461 0.0946 0.0337 0.04 NA 0.05 0.09 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260567 1.260567 NA 0.039598 0.058526 NA 0.043 NA 3.425602 1309 6 41655814 41655814 G A intronic TFEB NA NA NA intronic ENSG00000112561 NA NA NA NA NA 6p21.1 NA NA NA NA rs9471626 0.14 0.14 0.129 0.133387 0.1998 0.1835 0.1398 0.0514 0.1196 0.2 0.14 0.15 0.06 0.1698 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742167 NA NA 0.204931 0.085565 NA 0.101 NA 3.425469 1309 11 61645967 61645967 C G intronic FADS3 NA NA NA intronic ENSG00000221968 NA NA NA NA NA 11q12.2 NA NA NA NA rs174453 0.22 0.22 0.166 0.232029 0.1829 0.3046 0.4597 0.0582 0.2812 0.18 0.29 0.43 0.07 0.2222 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563878 NA NA 0.169458 0.087875 NA 0.181 NA 3.425442 1309 11 3436045 3436045 C T intergenic LOC650368,TRPC2 dist=5667;dist=211645 NA NA ncRNA_intronic ENSG00000166492 NA NA NA NA NA 11p15.4 NA NA NA NA rs7118884 0.71 0.71 0.688 0.733027 0.5746 0.9663 0.7147 0.6679 0.7566 0.58 0.97 0.65 0.65 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898631 NA NA NA NA NA 0.225 NA 3.4254 1309 2 65559027 65559027 A G intronic SPRED2 NA NA NA intronic ENSG00000198369 NA NA NA NA NA 2p14 NA NA NA NA rs2271198 0.69 0.69 0.703 0.712859 0.5746 0.7817 0.6542 0.8366 0.6585 0.56 0.8 0.61 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996413 NA NA NA NA NA 0.768 NA 3.4254 1309 3 183663833 183663833 T C intronic ABCC5 NA NA NA intronic ENSG00000114770 NA NA NA NA NA 3q27.1 NA NA NA NA rs2292998 0.69 0.69 0.709 0.696486 0.5746 0.8532 0.5951 0.8147 0.5726 0.56 0.86 0.57 0.77 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98502 NA NA NA NA NA 0.71 NA 3.4254 1309 3 183679532 183679532 A G intronic ABCC5 NA NA NA intronic ENSG00000114770 NA NA NA NA NA 3q27.1 NA NA NA NA rs6443924 0.69 0.69 0.701 0.691494 0.5746 0.8611 0.5951 0.7897 0.5726 0.56 0.86 0.57 0.75 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151991 NA NA NA NA NA 0.717 NA 3.4254 1309 11 123599044 123599044 T C intronic ZNF202 NA NA NA intronic ENSG00000166261 NA NA NA NA NA 11q24.1 NA NA NA NA rs675172 0.43 0.43 0.455 0.406749 0.5746 0.2163 0.4265 0.4289 0.3865 0.57 0.26 0.46 0.4 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889113 NA NA NA NA NA 0.362 NA 3.4254 1309 20 18608945 18608945 G C intronic DTD1 NA NA NA intronic ENSG00000125821 NA NA NA NA NA 20p11.23 NA NA NA NA rs3818220 0.47 0.47 0.451 0.44389 0.5746 0.3145 0.5014 0.4493 0.3947 0.58 0.32 0.55 0.43 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276121 NA NA NA NA NA 0.594 NA 3.4254 1309 21 31803159 31803159 T C downstream KRTAP13-4 NA NA NA UTR3 ENSG00000186971 ENST00000334068:c.*83T>C NA NA NA NA 21q22.11 NA NA NA NA rs1539783 0.56 0.56 0.568 0.60024 0.5746 0.2798 0.6571 0.8064 0.638 0.55 0.29 0.66 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521837 NA NA NA NA NA 0.725 NA 3.4254 1309 2 163030336 163030336 T C intronic FAP NA NA NA intronic ENSG00000078098 NA NA NA NA NA 2q24.2 NA NA NA NA rs3764917 0.17 0.17 0.157 0.211462 0.1928 0.3462 0.1037 0.0083 0.4427 0.18 0.32 0.12 0.01 0.195 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604793 NA NA 0.187064 0.037676 ID=COSN166314;OCCURENCE=1(breast),1(lung) 0.217 NA 3.425136 1310 4 68934306 68934306 G A ncRNA_intronic LOC550113 NA NA NA ncRNA_intronic ENSG00000248049 NA NA NA NA NA 4q13.2 NA NA Name=5 NA rs10004522 0.64 0.64 0.63 0.634984 0.7296 0.8641 0.5461 0.3638 0.7311 0.72 0.86 0.6 0.31 0.7209 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389663 NA NA 0.791279 0.477077 NA 0.514 NA 3.4248876 1310 6 160465753 160465753 T G intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs609207 0.59 0.59 0.567 0.615216 0.5755 0.6865 0.7421 0.4531 0.7117 0.57 0.65 0.71 0.45 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804903 NA NA NA NA NA 0.587 NA 3.4245 1310 9 127650321 127650321 G C intronic GOLGA1 NA NA NA intronic ENSG00000136935 NA NA NA NA NA 9q33.3 NA NA NA NA rs754508 0.49 0.49 0.468 0.493011 0.5755 0.381 0.4755 0.4327 0.6176 0.6 0.37 0.51 0.45 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090568 NA NA NA NA NA 0.536 NA 3.4245 1310 16 3118849 3118849 C T intronic IL32 NA NA NA intronic ENSG00000008517 NA NA NA NA NA 16p13.3 NA NA NA NA rs12922880 0.46 0.46 0.436 0.458267 0.5755 0.4375 0.4899 0.264 0.5992 0.57 0.46 0.52 0.28 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488527 NA NA NA NA NA 0.449 NA 3.4245 1310 10 21157492 21157492 T C intronic NEBL NA NA NA UTR3 ENSG00000078114 ENST00000377119:c.*89A>G NA NA NA NA 10p12.31 NA NA NA NA rs2296609 0.7 0.7 0.722 0.678914 0.7425 0.5169 0.6844 0.792 0.6237 0.75 0.52 0.72 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101879 NA NA NA NA NA 0.703 NA 3.4241667 1310 12 125834395 125834395 T C exonic TMEM132B NA synonymous SNV TMEM132B:NM_052907:exon2:c.T450C:p.S150S exonic ENSG00000139364 NA synonymous SNV ENSG00000139364:ENST00000299308:exon2:c.T450C:p.S150S NA NA 12q24.31 NA NA NA NA rs3803155 0.67 0.67 0.634 0.661142 0.7435 0.8105 0.8055 0.3154 0.7873 0.73 0.83 0.78 0.32 0.7481 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340884 NA NA 0.751193 0.435171 NA 0.659 NA 3.4238736 1310 10 26356015 26356015 A G intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3824697 0.32 0.32 0.338 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.45 0.26 0.3 0.23 0.4819 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111978 NA NA 0.532674 0.347481 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039021.1;CLNDSDB=.;CLNDSDBID=. 3.423826 1310 4 68928740 68928740 G A ncRNA_exonic LOC550113,SYT14L NA NA NA ncRNA_exonic ENSG00000215127,ENSG00000248049 NA NA NA Score=526;Name=lod=183 NA 4q13.2 NA NA NA NA rs1837215 0.65 0.65 0.641 0.635383 0.7296 0.8651 0.5461 0.3646 0.7311 0.74 0.87 0.6 0.31 0.7214 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025999 NA NA 0.791977 0.475715 NA 0.681 NA 3.4236896 1310 3 41759191 41759191 T C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs17060938 0.3 0.3 0.308 0.31849 0.1879 0.1478 0.1758 0.7254 0.18 0.19 0.15 0.17 0.72 0.2143 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626434 NA NA 0.174186 0.630624 NA 0.355 NA 3.423614 1310 1 119981612 119981612 C T intergenic HSD3B2,HSD3B1 dist=15950;dist=68214 NA NA upstream ENSG00000203858 NA NA NA NA NA 1p12 NA NA NA NA rs10489812 0.14 0.14 0.135 0.160144 0.0765 0.0635 0.1513 0.3162 0.1411 0.07 0.05 0.16 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844616 NA NA NA NA NA 0.196 NA 3.4235 1310 1 119988784 119988784 T C intergenic HSD3B2,HSD3B1 dist=23122;dist=61042 NA NA downstream ENSG00000203858 NA NA NA NA NA 1p12 NA NA NA NA rs11801567 0.14 0.14 0.133 0.160144 0.0765 0.0635 0.1513 0.3162 0.1411 0.07 0.05 0.16 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440804 NA NA NA NA NA 0.203 NA 3.4235 1310 1 119988799 119988799 G C intergenic HSD3B2,HSD3B1 dist=23137;dist=61027 NA NA downstream ENSG00000203858 NA NA NA NA NA 1p12 NA NA NA NA rs11802702 0.14 0.14 0.136 0.160343 0.0765 0.0635 0.1513 0.3169 0.1411 0.07 0.05 0.16 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351776 NA NA NA NA NA 0.203 NA 3.4235 1310 15 76085413 76085413 A G intergenic MIR4313,UBE2Q2 dist=30757;dist=50209 NA NA upstream ENSG00000261820 NA NA NA NA NA 15q24.2 NA NA NA NA rs2089094 0.05 0.05 0.035 0.0421326 0.0765 0.003 0.0461 0.0537 0.0286 0.07 0.0035 0.04 0.05 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267031 NA NA NA NA NA 0.08 NA 3.4235 1310 17 7705089 7705089 C G intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791834 0.47 0.47 0.419 0.464657 0.5765 0.5744 0.6052 0.1346 0.5828 0.57 0.57 0.55 0.16 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02234 NA NA NA NA NA 0.449 NA 3.4235 1310 21 47537882 47537882 G A intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs7279347 0.47 0.47 0.424 0.451478 0.5258 0.4008 0.6499 0.3328 0.4468 0.54 0.38 0.62 0.35 0.5309 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765426 NA NA 0.520135 0.352325 NA 0.413 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079839.1;CLNDSDB=.;CLNDSDBID=. 3.423165 1310 10 13838604 13838604 A G intronic FRMD4A NA NA NA intronic ENSG00000151474 NA NA NA Score=251;Name=lod=14 NA 10p13 NA NA NA NA rs3740121 0.42 0.42 0.401 0.395767 0.5258 0.4653 0.4409 0.115 0.5378 0.53 0.5 0.44 0.16 0.5034 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.761979 1.761979 NA 0.547907 0.167272 NA 0.355 NA 3.422893 1310 19 10475760 10475760 G A intronic TYK2 NA NA NA intronic ENSG00000105397 NA NA NA NA NA 19p13.2 NA NA NA NA rs12720270 0.22 0.22 0.193 0.207668 0.168 0.5 0.1441 0.031 0.2311 0.17 0.46 0.18 0.04 0.226 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279538 NA NA 0.183488 0.067408 NA 0.087 NA 3.422512 1310 1 33234153 33234153 G A intronic KIAA1522 NA NA NA intronic ENSG00000162522 NA NA NA NA NA 1p35.1 NA NA NA NA rs3737993 0.58 0.58 0.582 0.569888 0.5775 0.7341 0.5937 0.4221 0.5757 0.57 0.73 0.6 0.41 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717801 NA NA NA NA NA 0.551 NA 3.4225 1310 2 216861273 216861273 T C intronic MREG NA NA NA intronic ENSG00000115425,ENSG00000118242 NA NA NA NA NA 2q35 NA NA NA NA rs2303845 0.5 0.5 0.488 0.500799 0.5775 0.3442 0.5259 0.5741 0.4663 0.57 0.33 0.52 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.221933 NA NA NA NA NA 0.471 NA 3.4225 1310 6 572714 572714 C T intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs12154040 0.46 0.46 0.435 0.467652 0.5775 0.3502 0.6643 0.2458 0.636 0.57 0.38 0.62 0.28 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237477 NA NA NA NA NA 0.529 NA 3.4225 1310 10 17061681 17061681 A G intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA NA NA 10p13 NA NA NA NA rs3740164 0.68 0.68 0.677 0.676118 0.5775 0.6647 0.6888 0.8079 0.6022 0.6 0.67 0.67 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217238 NA NA NA NA NA 0.703 NA 3.4225 1310 16 72057282 72057282 A G intronic DHODH NA NA NA intronic ENSG00000102967 NA NA NA NA NA 16q22.2 NA NA NA NA rs2288002 0.51 0.51 0.533 0.544928 0.5775 0.37 0.402 0.6112 0.7035 0.58 0.38 0.43 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025702 NA NA NA NA NA 0.601 NA 3.4225 1310 2 218679599 218679599 T C intronic TNS1 NA NA NA intronic ENSG00000079308 NA NA NA NA NA 2q35 NA NA NA NA rs2059408 0.21 0.21 0.178 0.179912 0.1889 0.4315 0.147 0.0348 0.1309 0.19 0.4 0.16 0.03 0.204 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343209 NA NA 0.184884 0.069678 NA 0.109 NA 3.422216 1310 13 102366742 102366742 C T intronic ITGBL1 NA NA NA intronic ENSG00000198542 NA NA NA NA NA 13q33.1 NA NA NA NA rs2281990 0.13 0.13 0.133 0.127596 0.1988 0.1319 0.1412 0.0363 0.1636 0.19 0.12 0.15 0.04 0.1702 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122584 NA NA 0.208953 0.064911 NA 0.188 NA 3.422047 1310 19 4294551 4294551 T C intronic TMIGD2 NA NA NA intronic ENSG00000167664 NA NA NA NA NA 19p13.3 NA NA NA NA rs62129297 0.12 0.12 0.111 0.135783 0.1859 0.0704 0.1354 0.0635 0.2495 0.21 0.06 0.14 0.06 0.1902 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362564 NA NA 0.202093 0.083749 NA 0.094 NA 3.421807 1310 9 90498210 90498210 T C intronic SPATA31E1 NA NA NA intronic ENSG00000177992 NA NA NA NA NA 9q22.1 NA NA NA NA rs4072357 0.76 0.76 0.771 0.761781 0.5785 0.873 0.7233 0.9402 0.6217 0.58 0.87 0.71 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933194 NA NA NA NA NA 0.725 NA 3.4215 1310 14 107275814 107275814 A G intergenic LINC00221,NONE dist=324285;dist=NONE NA NA downstream ENSG00000254284 NA NA NA NA NA 14q32.33 NA NA NA NA rs73396201 NA NA 0.252 0.163538 0.0785 0.0456 0.134 0.3321 0.1656 NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551623 NA NA NA NA NA 0.065 NA 3.4215 1310 12 108042960 108042960 C G intronic BTBD11 NA NA NA intronic ENSG00000151136 NA NA NA NA NA 12q23.3 NA NA NA NA rs17039588 0.24 0.24 0.217 0.193091 0.1829 0.4613 0.245 0.0136 0.1329 0.19 0.52 0.2 0.03 0.2055 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765613 NA NA 0.190233 0.039265 NA 0.174 NA 3.421367 1310 19 54613420 54613420 G A intronic TFPT NA NA NA intronic ENSG00000105619 NA NA NA NA NA 19q13.42 NA NA NA NA rs12609379 0.2 0.2 0.174 0.180711 0.2008 0.1944 0.1988 0.1014 0.2403 0.22 0.25 0.22 0.13 0.1909 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489541 NA NA 0.186977 0.119383 NA 0.123 NA 3.421323 1310 14 25288227 25288227 T C intronic STXBP6 NA NA NA intronic ENSG00000168952 NA NA NA NA NA 14q12 NA NA NA NA rs749594 0.32 0.32 0.314 0.334665 0.1918 0.3819 0.1556 0.6135 0.183 0.19 0.36 0.15 0.61 0.2237 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924063 NA NA 0.163605 0.533818 NA 0.217 NA 3.420895 1310 3 53529140 53529140 T C UTR5 CACNA1D NM_001128840:c.-54T>C,NM_001128839:c.-54T>C,NM_000720:c.-54T>C NA NA UTR5 ENSG00000157388 ENST00000350061:c.-54T>C,ENST00000288139:c.-54T>C NA NA NA NA 3p21.1 NA NA NA NA rs312480 0.87 0.87 0.789 0.859425 0.9125 0.9633 0.9121 0.6377 0.9601 0.93 0.96 0.91 0.64 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.523163 1.523163 NA NA NA NA 0.37 NA 3.4208334 1310 11 6292838 6292838 G A UTR3 CCKBR NM_176875:c.*65G>A NA NA UTR3 ENSG00000110148 ENST00000334619:c.*65G>A,ENST00000532715:c.*65G>A,ENST00000525462:c.*65G>A NA NA NA NA 11p15.4 NA NA NA NA rs10839536 0.7 0.7 0.2 0.833866 0.9125 0.9504 0.8804 0.6362 0.8671 0.75 0.73 0.72 0.55 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544308 NA NA NA NA NA 0.007 NA 3.4208334 1310 9 95888667 95888667 T C intronic NINJ1 NA NA NA intronic ENSG00000131669 NA NA NA NA NA 9q22.31 NA NA NA NA rs12235416 0.23 0.23 0.202 0.220048 0.1879 0.247 0.0965 0.3517 0.135 0.19 0.23 0.11 0.38 0.2036 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528984 NA NA 0.187878 0.334545 ID=COSN168605;OCCURENCE=2(large_intestine) 0.174 NA 3.420622 1310 9 139402908 139402908 T C intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs3812603 0.75 0.75 0.736 0.761382 0.5795 0.9147 0.6398 0.9365 0.6401 0.57 0.88 0.67 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581487 NA NA NA NA NA 0.739 NA 3.4205 1310 12 23757245 23757245 C T intronic SOX5 NA NA NA intronic ENSG00000134532 NA NA NA NA NA 12p12.1 NA NA NA NA rs1479452 0.63 0.63 0.635 0.625799 0.5795 0.6974 0.5216 0.6967 0.5777 0.58 0.66 0.56 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573933 NA NA NA NA NA 0.674 NA 3.4205 1310 15 87217721 87217721 C G intronic AGBL1 NA NA NA intronic ENSG00000166748 NA NA NA NA NA 15q25.3 NA NA NA NA rs11856329 0.42 0.42 0.432 0.437101 0.5795 0.3403 0.4438 0.3691 0.4775 0.58 0.3 0.42 0.31 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435382 NA NA NA NA NA 0.5 NA 3.4205 1310 19 52012269 52012269 G A intergenic SIGLEC12,SIGLEC6 dist=7226;dist=10515 NA NA ncRNA_intronic ENSG00000269580 NA NA NA NA NA 19q13.41 NA NA NA NA rs11668941 0.4 0.4 0.38 0.402356 0.5795 0.2758 0.5677 0.1278 0.6043 0.59 0.26 0.56 0.16 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719777 NA NA NA NA NA 0.362 NA 3.4205 1310 22 47568971 47568971 C T intronic TBC1D22A NA NA NA intronic ENSG00000054611 NA NA NA NA NA 22q13.31 NA NA NA NA rs5767564 0.49 0.49 0.468 0.483626 0.5795 0.5526 0.4899 0.3064 0.5491 0.57 0.55 0.5 0.31 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.127544 NA NA NA NA NA 0.42 NA 3.4205 1310 3 143567207 143567207 A G UTR5 SLC9A9 NM_173653:c.-43T>C NA NA UTR5 ENSG00000181804 ENST00000316549:c.-43T>C,ENST00000474727:c.-43T>C,ENST00000474151:c.-43T>C NA NA NA NA 3q24 NA Name=Pol2,Pol2-4H8 Name=122 NA rs11714060 0.95 0.95 0.945 0.95008 0.9732 1 0.9625 0.8517 0.999 0.98 1 0.95 0.86 0.9714 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027554 NA NA 0.968953 0.888334 NA 0.942 NA 3.4197804 1310 11 6477455 6477455 C T intronic TRIM3 NA NA NA intronic ENSG00000110171 NA NA NA NA NA 11p15.4 NA NA NA NA rs13343175 0.17 0.17 0.194 0.196885 0.1849 0.0188 0.1787 0.3321 0.2229 0.19 0.03 0.15 0.34 0.1891 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.360863 1.360863 NA 0.206238 0.324171 NA 0.326 NA 3.419762 1310 1 70225832 70225832 G A upstream LRRC7 NA NA NA intronic ENSG00000033122 NA NA NA NA NA 1p31.1 NA NA NA NA rs17397812 0.14 0.14 0.121 0.113419 0.2376 0.0714 0.1297 0.0477 0.1063 0.23 0.1 0.16 0.04 0.176 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060735 NA NA NA NA NA 0.138 NA 3.4197333 1310 8 62465580 62465580 T C intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs4289805 0.34 0.34 0.357 0.342452 0.175 0.3571 0.2205 0.6687 0.1452 0.16 0.38 0.2 0.65 0.2272 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.908101 NA NA 0.17814 0.554017 NA 0.29 NA 3.41966 1310 1 175086461 175086461 A G intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs6690229 0.62 0.62 0.657 0.647963 0.5805 0.4167 0.5533 0.9576 0.6043 0.59 0.43 0.55 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339219 NA NA NA NA NA 0.783 NA 3.4195 1310 7 148903984 148903984 G A intronic ZNF282 NA NA NA intronic ENSG00000170265 NA NA NA NA NA 7q36.1 NA NA NA NA rs12537763 0.59 0.59 0.561 0.582069 0.5805 0.9246 0.6571 0.1142 0.8098 0.6 0.94 0.64 0.14 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207802 NA NA NA NA NA 0.601 NA 3.4195 1310 9 117086226 117086226 A G intronic ORM1 NA NA NA intronic ENSG00000229314 NA NA NA NA NA 9q32 NA NA NA NA rs1111796 0.72 0.72 0.702 0.73143 0.5805 0.8482 0.5836 0.8654 0.6902 0.59 0.84 0.59 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.30497 1.30497 NA NA NA NA 0.746 NA 3.4195 1310 16 70502610 70502610 C G intronic FUK NA NA NA intronic ENSG00000157353 NA NA NA NA NA 16q22.1 NA NA NA NA rs12446395 0.63 0.63 0.631 0.600439 0.5805 0.63 0.6167 0.7844 0.3303 0.57 0.64 0.63 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963693 NA NA NA NA NA 0.536 NA 3.4195 1310 18 72186404 72186404 G A intronic CNDP2 NA NA NA intronic ENSG00000133313 NA NA NA NA NA 18q22.3 NA NA NA NA rs2241508 0.6 0.6 0.576 0.596446 0.5805 0.876 0.7248 0.2307 0.728 0.59 0.89 0.68 0.24 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836899 NA NA NA NA NA 0.5 NA 3.4195 1310 19 57835252 57835252 C T intronic ZNF543 NA NA NA intronic ENSG00000178229 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801216 0.55 0.55 0.516 0.526757 0.5805 0.4325 0.621 0.5885 0.4182 0.59 0.47 0.63 0.54 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508922 NA NA NA NA NA 0.406 NA 3.4195 1310 22 31329056 31329056 G C intronic MORC2 NA NA NA intronic ENSG00000133422 NA NA NA NA NA 22q12.2 NA Name=Pol2-4H8 NA NA rs2074578 0.59 0.59 0.576 0.604633 0.5169 0.7659 0.4971 0.6339 0.5654 0.5 0.7 0.56 0.63 0.5402 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902326 NA NA 0.523488 0.609396 NA 0.572 NA 3.419412 1310 17 48472270 48472270 C T intronic LRRC59 NA NA NA intronic ENSG00000108829 NA NA NA NA NA 17q21.33 NA Name=ELF1_(SC-631) Name=22 NA rs3760407 0.72 0.72 0.739 0.725839 0.8757 0.244 0.879 0.9266 0.6881 0.87 0.24 0.91 0.93 0.8124 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.351596 2.351596 NA 0.892907 0.924421 NA 0.841 NA 3.418993 1310 6 8026577 8026577 T C ncRNA_intronic BLOC1S5-TXNDC5,EEF1E1-MUTED NA NA NA intronic ENSG00000188428,ENSG00000259040,ENSG00000265818 NA NA NA NA NA 6p24.3 NA NA Name=3 NA rs9328452 0.69 0.69 0.686 0.69389 0.6183 0.9395 0.6729 0.5265 0.7597 0.63 0.94 0.65 0.52 0.6691 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187035 NA NA 0.626977 0.537449 NA 0.616 NA 3.4189563 1310 11 130781685 130781685 G C intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA NA NA NA rs12420847 0.14 0.14 0.143 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 0.1746 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203706 NA NA 0.207936 0.071558 NA 0.217 NA 3.418664 1310 19 844077 844077 A C intronic PRTN3 NA NA NA intronic ENSG00000196415 NA NA NA NA NA 19p13.3 NA NA Name=4 NA rs351112 0.59 0.59 0.57 0.627596 0.4692 0.5635 0.6744 0.7451 0.6646 0.49 0.57 0.64 0.71 0.6477 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383924 NA NA 0.464436 0.698355 NA 0.116 NA 3.418664 1310 21 46047418 46047418 C T exonic KRTAP10-9 NA synonymous SNV KRTAP10-9:NM_198690:exon1:c.C330T:p.C110C exonic ENSG00000221837 NA synonymous SNV ENSG00000221837:ENST00000397911:exon1:c.C330T:p.C110C NA NA 21q22.3 NA NA NA NA rs8126553 0.77 0.77 0.737 0.787141 0.7714 0.6746 0.745 0.9123 0.7802 0.77 0.64 0.77 0.91 0.7533 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.346523 NA NA 0.723308 0.888914 NA 0.507 NA 3.4186586 1310 1 25254317 25254317 C T intronic RUNX3 NA NA NA intronic ENSG00000020633 NA NA NA NA NA 1p36.11 NA NA NA NA rs7517302 0.53 0.53 0.537 0.545128 0.5815 0.5575 0.5778 0.444 0.6084 0.58 0.49 0.57 0.47 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067095 NA NA NA NA NA 0.565 NA 3.4185 1310 3 38764782 38764782 G T intronic SCN10A NA NA NA intronic ENSG00000185313 NA NA NA NA NA 3p22.2 NA NA NA NA rs4076737 0.71 0.71 0.724 0.729034 0.5815 0.7232 0.5965 0.9478 0.6851 0.57 0.78 0.6 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122547 NA NA NA NA NA 0.667 NA 3.4185 1310 4 44700453 44700453 G C intronic GUF1 NA NA NA intronic ENSG00000151806 NA NA NA NA NA 4p12 NA NA NA NA rs1547526 0.46 0.46 0.4 0.423522 0.5815 0.4008 0.5101 0.2731 0.4264 0.6 0.4 0.52 0.27 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430756 NA NA NA NA NA 0.609 NA 3.4185 1310 15 50601811 50601811 T C intronic GABPB1 NA NA NA intronic ENSG00000104064 NA NA NA NA NA 15q21.2 NA NA NA NA rs11636564 0.37 0.37 0.377 0.360423 0.5815 0.0407 0.5533 0.2958 0.4131 0.57 0.04 0.57 0.29 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071245 NA NA NA NA NA 0.493 NA 3.4185 1310 12 123907563 123907563 G A intronic RILPL2 NA NA NA intronic ENSG00000150977 NA NA NA NA NA 12q24.31 NA NA NA NA rs28625019 0.14 0.14 0.127 0.145168 0.2058 0.002 0.1916 0.143 0.2004 0.22 NA 0.19 0.15 0.1888 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.884013 NA NA 0.187093 0.154562 NA 0.167 NA 3.418307 1310 11 130781675 130781675 C T intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA NA NA NA rs12420822 0.14 0.14 0.133 0.127596 0.1988 0.1538 0.0893 0.0492 0.1605 0.2 0.17 0.1 0.05 0.1746 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114786 NA NA 0.208401 0.071558 NA 0.217 NA 3.418199 1310 10 95353817 95353817 C G intronic RBP4 NA NA NA intronic ENSG00000138207,ENSG00000186188 NA NA NA NA NA 10q23.33 NA NA NA NA rs12265684 0.2 0.2 0.206 0.241214 0.1988 0.0913 0.1614 0.348 0.3517 0.19 0.1 0.18 0.36 0.2044 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235475 NA NA 0.178837 0.332728 NA 0.283 NA 3.417963 1310 6 38702212 38702212 G A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs1698996 0.17 0.17 0.164 0.167332 0.3161 0.0089 0.2104 0.1014 0.2362 0.32 0.01 0.23 0.1 0.266 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136653 NA NA NA NA NA 0.174 NA 3.4179 1310 7 47979922 47979922 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA Name=STAT3 NA NA rs2708913 0.51 0.51 NA 0.496406 0.5239 0.5119 0.5259 0.5242 0.3937 0.53 0.49 0.5 0.49 0.5529 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950811 NA NA 0.505349 0.517022 NA 0.601 NA 3.417851 1310 17 69368 69368 G C intronic RPH3AL NA NA NA intronic ENSG00000181031 NA NA NA NA NA 17p13.3 NA NA NA NA rs62059560 0.24 0.24 0.238 0.00778754 0.0219 0.0069 0.0086 NA 0.0041 0.33 0.26 0.21 0.08 0.2714 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.076726 NA NA 0.288904 0.077848 NA 0.362 NA 3.417796 1310 6 36041431 36041431 A G intronic MAPK14 NA NA NA intronic ENSG00000112062 NA NA NA NA NA 6p21.31 NA Name=PU.1 NA NA rs851010 0.36 0.36 0.373 0.384784 0.5666 0.253 0.4121 0.1596 0.6186 0.55 0.25 0.43 0.16 0.4788 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992789 NA NA 0.537093 0.222197 ID=COSN167753;OCCURENCE=1(large_intestine) 0.326 NA 3.417507 1310 1 161176137 161176137 A G intronic NDUFS2 NA NA NA intronic ENSG00000158864 NA NA NA NA NA 1q23.3 NA NA NA NA rs4656993 0.69 0.69 0.717 0.704473 0.5825 0.8909 0.6902 0.6097 0.7761 0.58 0.92 0.64 0.65 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306399 NA NA NA NA NA 0.601 NA 3.4175 1310 2 89416689 89416689 C T intergenic MIR4436A,NONE dist=304721;dist=NONE NA NA downstream ENSG00000240382 NA NA NA NA NA 2p11.2 NA NA NA NA rs112656330 0.05 0.05 NA 0.0704872 0.0825 0.0069 0.0576 0.0885 0.1084 0.07 0.01 0.03 0.07 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510402 NA NA NA NA NA NA NA 3.4175 1310 12 94984559 94984559 T C intronic TMCC3 NA NA NA intronic ENSG00000057704 NA NA NA NA NA 12q22 NA NA NA NA rs4761637 0.56 0.56 0.55 0.54972 0.5825 0.4544 0.5865 0.6074 0.5102 0.58 0.47 0.6 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235715 NA NA NA NA NA 0.507 NA 3.4175 1310 16 31427678 31427678 C T intronic ITGAD NA NA NA intronic ENSG00000156886 NA NA NA NA NA 16p11.2 NA NA NA NA rs8056122 0.56 0.56 0.526 0.521366 0.5825 0.6488 0.6124 0.2973 0.5654 0.59 0.7 0.61 0.3 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047542 NA NA NA NA NA 0.565 NA 3.4175 1310 18 9679457 9679457 G A intergenic PPP4R1,RAB31 dist=64852;dist=28771 NA NA ncRNA_exonic ENSG00000264644 NA NA NA NA NA 18p11.22 NA NA NA NA rs2124300 0.47 0.47 0.487 0.449481 0.5825 0.3542 0.3948 0.5242 0.3487 0.58 0.34 0.42 0.5 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099089 NA NA NA NA NA 0.58 NA 3.4175 1310 12 123352179 123352179 C T intronic VPS37B NA NA NA intronic ENSG00000139722 NA NA NA NA NA 12q24.31 NA Name=Pol2-4H8,CTCF Name=40 NA rs3825143 0.77 0.77 0.75 0.735823 0.8648 0.7649 0.9121 0.5598 0.6861 0.87 0.75 0.89 0.54 0.827 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259096 NA NA 0.890814 0.625057 NA 0.768 NA 3.417386 1310 1 240497265 240497265 A C intronic FMN2 NA NA NA intronic ENSG00000155816 NA NA NA NA NA 1q43 NA Name=MafK_(ab50322) NA NA rs10157874 0.64 0.64 0.662 0.65016 0.5119 0.5278 0.7046 0.9244 0.5092 0.52 0.56 0.7 0.88 0.5717 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072328 NA NA 0.499186 0.860064 NA 0.623 NA 3.417214 1310 6 29069016 29069016 G A intergenic OR2B3,OR2J3 dist=13926;dist=10652 NA NA exonic ENSG00000204702 NA synonymous SNV ENSG00000204702:ENST00000377171:exon1:c.G297A:p.T99T NA NA 6p22.1 NA NA NA NA rs3131088 0.39 0.39 0.373 0.336861 0.5815 0.3512 0.4323 0.0454 0.3967 0.61 0.35 0.44 0.05 0.5013 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.133526 NA NA NA NA NA 0.312 NA 3.4172 1310 16 20492304 20492304 A T intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs1700809 0.49 0.49 0.49 0.508986 0.2614 0.7917 0.2781 0.6392 0.4601 0.28 0.8 0.29 0.62 0.3215 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506262 NA NA NA NA NA 0.449 NA 3.4171 1310 12 56565392 56565392 T G intronic SMARCC2 NA NA NA ncRNA_intronic ENSG00000258199 NA NA NA NA NA 12q13.2 NA NA NA NA rs7311008 0.79 0.79 0.764 0.757987 0.9165 0.9732 0.8775 0.2753 0.9407 0.92 0.97 0.88 0.33 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399476 NA NA NA NA NA 0.739 NA 3.4168333 1310 15 91795758 91795758 A C intronic SV2B NA NA NA intronic ENSG00000185518 NA NA NA NA NA 15q26.1 NA NA NA NA rs16945457 0.19 0.19 0.222 0.204273 0.2048 0.001 0.1556 0.4697 0.089 0.2 NA 0.17 0.42 0.1874 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.297247 NA NA 0.191019 0.436306 NA 0.174 NA 3.416781 1310 2 231740276 231740276 A G intronic ITM2C NA NA NA intronic ENSG00000135916 NA NA NA NA NA 2q37.1 NA NA NA NA rs2289231 0.64 0.64 0.64 0.608826 0.5835 0.8571 0.6758 0.4357 0.5654 0.6 0.86 0.64 0.46 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299197 NA NA NA NA NA 0.5 NA 3.4165 1310 9 73457832 73457832 G A intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs1337031 0.51 0.51 0.457 0.520567 0.5835 0.2728 0.5591 0.5885 0.592 0.59 0.26 0.61 0.58 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203934 NA NA NA NA NA 0.565 NA 3.4165 1310 21 43714517 43714517 A C intronic ABCG1 NA NA NA intronic ENSG00000160179 NA NA NA NA NA 21q22.3 NA NA NA NA rs9975333 0.61 0.61 0.591 0.594848 0.5835 0.5933 0.6052 0.6649 0.5061 0.58 0.63 0.64 0.63 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082371 NA NA NA NA NA 0.717 NA 3.4165 1310 9 32986040 32986040 A C intronic APTX NA NA NA intronic ENSG00000137074 NA NA NA NA NA 9p21.1 NA NA NA NA rs1981011 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5836 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002327 NA NA NA NA NA NA NA 3.4164 1310 11 130777813 130777813 G A intronic SNX19 NA NA NA intronic ENSG00000120451 NA NA NA NA NA 11q24.3 NA NA NA NA rs2276097 0.15 0.15 0.142 0.129593 0.1988 0.1637 0.0893 0.0492 0.1605 0.2 0.19 0.1 0.05 0.1768 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394762 NA NA 0.208168 0.071558 NA 0.217 NA 3.416232 1310 19 49543115 49543115 C T intergenic SNAR-G1,CGB5 dist=2711;dist=3987 NA NA intronic ENSG00000267631 NA NA NA NA NA 19q13.33 NA NA NA NA rs62126043 0.2 0.2 0.183 0.199481 0.2505 0.128 0.304 0.121 0.2526 0.24 0.14 0.28 0.15 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933829 NA NA NA NA NA 0.232 NA 3.4161667 1310 7 90003694 90003694 A C intronic GTPBP10 NA NA NA intronic ENSG00000105793 NA NA NA NA NA 7q21.13 NA NA NA NA rs11563547 0.14 0.14 0.12 0.115815 0.2028 0.1131 0.2089 0.0431 0.0613 0.21 0.11 0.19 0.04 0.1815 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404266 NA NA 0.199673 0.080872 NA 0.145 NA 3.416027 1310 5 98194781 98194781 C G intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q15 NA NA NA NA rs330421 0.3 0.3 0.326 0.302316 0.2903 0.0427 0.2392 0.6301 0.184 0.28 0.05 0.27 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837422 NA NA 0.294025 0.567197 NA 0.37 NA 3.415675 1310 3 29129983 29129983 G A intergenic LINC00693,RBMS3 dist=330155;dist=192820 NA NA ncRNA_exonic ENSG00000215004 NA NA NA NA NA 3p24.1 NA NA NA NA rs609465 0.62 0.62 0.605 0.655152 0.5845 0.5615 0.7392 0.7269 0.6677 0.58 0.58 0.69 0.67 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418056 NA NA NA NA NA 0.572 NA 3.4155 1310 11 7794976 7794976 T A intergenic OVCH2,OR5P2 dist=67035;dist=22545 NA NA ncRNA_exonic ENSG00000166408 NA NA NA Score=251;Name=lod=14 NA 11p15.4 NA NA NA NA rs980145 0.7 0.7 0.692 0.719848 0.7793 0.6042 0.7723 0.68 0.7945 0.78 0.61 0.78 0.63 0.8052 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.750613 1.750613 NA NA NA NA 0.725 NA 3.4155 1310 14 69791308 69791308 T A intronic GALNT16 NA NA NA intronic ENSG00000100626 NA NA NA NA NA 14q24.1 NA NA NA NA rs2045194 0.54 0.54 0.483 0.552316 0.5845 0.5903 0.7089 0.2678 0.7536 0.58 0.62 0.67 0.27 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05439 NA NA NA NA NA 0.406 NA 3.4155 1310 19 41897674 41897674 G A intronic EXOSC5 NA NA NA intronic ENSG00000077348,ENSG00000248098,ENSG00000255730 NA NA NA NA NA 19q13.2 NA NA NA NA rs878082 0.51 0.51 0.501 0.506989 0.5845 0.4246 0.4467 0.4758 0.5971 0.58 0.45 0.51 0.49 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436102 NA NA NA NA NA 0.572 NA 3.4155 1311 9 86278773 86278773 T C intronic UBQLN1 NA NA NA intronic ENSG00000135018 NA NA NA NA NA 9q21.32 NA NA NA NA rs9314722 0.16 0.16 0.144 0.177915 0.1988 0.002 0.1369 0.2927 0.2117 0.19 0.0017 0.14 0.29 0.1875 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13215 NA NA 0.198721 0.277349 NA 0.188 NA 3.414979 1311 8 62563718 62563718 G T intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs7016408 0.18 0.18 0.175 0.221845 0.1899 0.2063 0.1758 0.1649 0.3804 0.18 0.23 0.18 0.15 0.2099 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573411 NA NA 0.185276 0.156676 NA 0.268 NA 3.414924 1311 7 87199564 87199564 C A intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs2235015 0.2 0.2 0.229 0.215655 0.2068 0.0714 0.1513 0.3918 0.181 0.2 0.06 0.17 0.39 0.1813 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372305 NA NA 0.197023 0.343395 NA 0.283 NA 3.414877 1311 8 144400065 144400065 C T intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs2272635 0.27 0.27 0.302 0.277756 0.3101 0.0774 0.1873 0.5083 0.2035 0.3 0.07 0.2 0.53 0.2753 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952475 NA NA NA NA NA 0.297 NA 3.4146 1311 2 160862094 160862094 G A intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs2667004 0.52 0.52 0.505 0.457867 0.5855 0.5833 0.353 0.3941 0.3579 0.59 0.63 0.37 0.4 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434522 NA NA NA NA NA 0.478 NA 3.4145 1311 4 4275986 4275986 A C intronic LYAR NA NA NA intronic ENSG00000145220 NA NA NA NA NA 4p16.3 NA NA NA NA rs11723471 NA NA NA 0.397764 0.5855 0.3452 0.5403 0.1536 0.4877 NA NA NA NA NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336959 NA NA NA NA NA 0.493 NA 3.4145 1311 15 86029097 86029097 C G intronic AKAP13 NA NA NA intronic ENSG00000170776 NA NA NA NA NA 15q25.3 NA NA NA NA rs11856869 0.4 0.4 0.371 0.388578 0.5855 0.2113 0.4755 0.4009 0.2904 0.53 0.22 0.49 0.34 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742552 NA NA NA NA NA 0.435 NA 3.4145 1311 17 16722984 16722984 G A intergenic USP32P1,KRT16P2 dist=15165;dist=10813 NA NA ncRNA_intronic ENSG00000226145 NA NA NA NA NA 17p11.2 NA NA NA NA rs3852824 0.7 0.7 0.724 0.734824 0.5855 0.9534 0.6758 0.7451 0.6912 0.58 0.95 0.66 0.63 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507673 NA NA NA NA NA 0.58 NA 3.4145 1311 19 41897688 41897688 G A intronic EXOSC5 NA NA NA intronic ENSG00000077348,ENSG00000248098,ENSG00000255730 NA NA NA NA NA 19q13.2 NA NA NA NA rs878083 0.55 0.55 0.556 0.54393 0.5855 0.4246 0.4654 0.6044 0.5982 0.58 0.45 0.54 0.62 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592253 NA NA NA NA NA 0.63 NA 3.4145 1311 19 54782589 54782589 T C intronic LILRB2 NA NA NA intronic ENSG00000131042 NA NA NA NA NA 19q13.42 NA NA NA NA rs586206 0.42 0.42 0.339 0.44369 0.5855 0.2688 0.5778 0.4191 0.4162 0.57 0.16 0.52 0.41 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77244 NA NA NA NA NA 0.507 NA 3.4145 1311 21 38092039 38092039 A C intronic SIM2 NA NA NA intronic ENSG00000159263 NA NA NA NA NA 21q22.13 NA NA NA NA rs2070650 0.52 0.52 0.534 0.547324 0.5855 0.502 0.6037 0.4909 0.591 0.56 0.46 0.58 0.49 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280243 NA NA NA NA NA 0.623 NA 3.4145 1311 7 154672717 154672717 G A intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs3817519 0.41 0.41 0.366 0.420727 0.2893 0.5476 0.4856 0.5 0.272 0.28 0.53 0.44 0.46 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595369 NA NA 0.296354 0.464595 NA 0.355 NA 3.414346 1311 12 32459070 32459070 T G intronic BICD1 NA NA NA intronic ENSG00000151746 NA NA NA NA NA 12p11.21 NA NA NA NA rs41521147 0.15 0.15 0.142 0.1252 0.2117 0.2083 0.1427 0.0113 0.092 0.21 0.2 0.14 0.02 0.1762 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473461 NA NA 0.197883 0.036558 NA 0.145 NA 3.414217 1311 6 157405761 157405761 G A intronic ARID1B NA NA NA intronic ENSG00000049618 NA NA NA NA NA 6q25.3 NA NA NA NA rs3734440 0.5 0.5 0.488 0.502396 0.5239 0.5903 0.6254 0.2731 0.6125 0.52 0.59 0.59 0.32 0.5227 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604053 NA NA 0.539302 0.336813 NA 0.464 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114262.2;CLNDSDB=.;CLNDSDBID=. 3.414098 1311 10 71849772 71849772 A G intronic H2AFY2 NA NA NA intronic ENSG00000099284 NA NA NA NA NA 10q22.1 NA NA NA NA rs16927265 0.18 0.18 0.176 0.188498 0.2048 0.0556 0.1499 0.3071 0.1759 0.19 0.06 0.18 0.3 0.1744 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395305 NA NA 0.207209 0.279392 NA 0.261 NA 3.413591 1311 4 40021852 40021852 C T intergenic PDS5A,LOC344967 dist=42276;dist=22685 NA NA upstream ENSG00000249064 NA NA NA NA NA 4p14 NA NA NA NA rs62310211 0.07 0.07 0.067 0.0852636 0.0865 0.0833 0.0548 0.0356 0.1748 0.1 0.07 0.06 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.200689 NA NA NA NA NA 0.072 NA 3.4135 1311 4 40023186 40023186 A T intergenic PDS5A,LOC344967 dist=43610;dist=21351 NA NA downstream ENSG00000249064 NA NA NA NA NA 4p14 NA NA NA NA rs62310212 0.07 0.07 0.062 0.0852636 0.0865 0.0833 0.0548 0.0356 0.1748 0.1 0.07 0.06 0.03 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529491 NA NA NA NA NA 0.072 NA 3.4135 1311 6 139186074 139186074 T C intronic ECT2L NA NA NA intronic ENSG00000203734 NA NA NA NA NA 6q24.1 NA NA NA NA rs1730387 0.52 0.52 0.514 0.494209 0.5865 0.2173 0.7017 0.6286 0.3558 0.59 0.23 0.69 0.62 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227136 NA NA NA NA NA 0.457 NA 3.4135 1311 22 42463366 42463366 C T intronic NAGA NA NA NA intronic ENSG00000198951 NA NA NA NA NA 22q13.2 NA NA NA NA rs133367 0.48 0.48 0.458 0.471446 0.5865 0.2966 0.6167 0.3699 0.5675 0.59 0.33 0.64 0.36 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.894518 NA NA NA NA NA 0.406 NA 3.4135 1311 12 56079084 56079084 C G intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs3852533 0.58 0.58 0.539 0.594649 0.495 0.9306 0.6254 0.2761 0.7597 0.51 0.92 0.58 0.31 0.5841 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498069 NA NA 0.507442 0.306627 NA 0.529 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079987.1;CLNDSDB=.;CLNDSDBID=. 3.413458 1311 14 22580762 22580762 G A intergenic OR4E2,DAD1 dist=446524;dist=453045 NA NA exonic ENSG00000211806 NA synonymous SNV ENSG00000211806:ENST00000390454:exon2:c.G105A:p.E35E NA NA 14q11.2 NA NA NA NA rs11628824 0.21 0.21 0.184 0.199081 0.3827 0.0744 0.2911 0.0189 0.317 0.37 0.08 0.33 0.03 0.324 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082112 NA NA 0.379903 0.076983 NA 0.268 NA 3.413397 1311 15 52503895 52503895 T C intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA NA NA rs34276836 0.18 0.18 0.167 0.184904 0.1909 0.0913 0.2968 0.1899 0.1892 0.18 0.08 0.28 0.2 0.2072 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712366 NA NA 0.188519 0.18768 NA 0.21 NA 3.413381 1311 9 14662171 14662171 T C intronic ZDHHC21 NA NA NA intronic ENSG00000175893 NA NA NA NA NA 9p22.3 NA NA NA NA rs10961640 0.2 0.2 0.158 0.223043 0.171 0.37 0.2248 0.0061 0.4172 0.19 0.37 0.23 0.01 0.2349 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178776 NA NA 0.180824 0.036104 NA 0.08 NA 3.413276 1311 6 158489778 158489778 C T intronic SYNJ2 NA NA NA intronic ENSG00000078269 NA NA NA NA NA 6q25.3 NA NA NA NA rs2296509 0.15 0.15 0.161 0.152955 0.2087 0.0665 0.0965 0.1861 0.18 0.21 0.07 0.11 0.18 0.1787 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53184 NA NA 0.199419 0.194961 NA 0.138 NA 3.413181 1311 1 47124479 47124479 A G intronic ATPAF1 NA NA NA intronic ENSG00000123472,ENSG00000159658 NA NA NA NA NA 1p33 NA NA NA NA rs611468 0.54 0.54 0.529 0.538738 0.3131 0.7996 0.4654 0.6467 0.408 0.3 0.78 0.47 0.68 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149099 NA NA 0.273727 0.583092 NA 0.442 NA 3.413173 1311 15 25415759 25415759 G A upstream SNORD115-1 NA NA NA ncRNA_exonic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs2714734 0.73 0.73 0.707 0.715855 0.7535 0.998 0.804 0.2761 0.9182 0.75 1 0.79 0.32 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317044 NA NA NA NA NA 0.688 NA 3.4131666 1311 13 103420680 103420680 C A intronic TEX30 NA NA NA intronic ENSG00000151287 NA NA NA NA NA 13q33.1 NA NA NA NA rs1470654 0.27 0.27 0.27 0.267173 0.164 0.3968 0.2363 0.3472 0.1534 0.16 0.41 0.24 0.3 0.2259 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.615518 NA NA 0.196991 0.315168 NA 0.014 NA 3.413109 1311 19 33702245 33702245 A G intronic SLC7A10 NA NA NA intronic ENSG00000130876 NA NA NA Score=243;Name=lod=13 NA 19q13.11 NA NA NA NA rs2241378 0.4 0.4 0.367 0.426118 0.5348 0.2817 0.549 0.2231 0.6503 0.55 0.29 0.54 0.21 0.5171 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.06114 2.06114 NA 0.535233 0.260327 NA 0.399 NA 3.412867 1311 10 71152091 71152091 T C intronic HK1 NA NA NA intronic ENSG00000156515 NA NA NA NA NA 10q22.1 NA Name=Pol2 NA NA rs2278745 0.6 0.6 0.582 0.602436 0.5189 0.6101 0.6859 0.6422 0.5675 0.51 0.65 0.64 0.65 0.5534 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593556 NA NA 0.514884 0.628461 NA 0.594 NA 3.412816 1311 5 167946076 167946076 A G intronic RARS NA NA NA intronic ENSG00000113643 NA NA NA NA NA 5q34 NA NA NA NA rs2305736 0.19 0.19 0.155 0.147364 0.1899 0.1726 0.3329 0.0477 0.0808 0.19 0.22 0.31 0.08 0.198 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.300692 NA NA 0.199419 0.07626 NA 0.109 NA 3.412681 1311 5 168250429 168250429 C T intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs1875977 0.64 0.64 0.678 0.654952 0.5875 0.6687 0.5144 0.7443 0.6892 0.59 0.63 0.57 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05805 NA NA NA NA NA 0.587 NA 3.4125 1311 8 105355840 105355840 A G intronic DCSTAMP NA NA NA intronic ENSG00000164935 NA NA NA NA NA 8q22.3 NA NA NA NA rs2458414 0.36 0.36 0.359 0.346845 0.5875 0.2252 0.3256 0.1778 0.4683 0.57 0.26 0.33 0.18 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615149 NA NA NA NA NA 0.319 NA 3.4125 1311 14 77750057 77750057 T G intronic POMT2 NA NA NA intronic ENSG00000009830 NA NA NA NA NA 14q24.3 NA NA NA NA rs2216089 0.5 0.5 0.507 0.492013 0.5875 0.495 0.4049 0.4682 0.4847 0.6 0.49 0.41 0.44 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340777 NA NA NA NA NA 0.594 NA 3.4125 1311 16 3118865 3118865 T C intronic IL32 NA NA NA intronic ENSG00000008517 NA NA NA NA NA 16p13.3 NA NA NA NA rs12934561 0.52 0.52 0.501 0.540535 0.5875 0.4474 0.5245 0.5189 0.6288 0.57 0.47 0.55 0.49 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572798 NA NA NA NA NA 0.522 NA 3.4125 1311 5 128441119 128441119 T C intronic ISOC1 NA NA NA intronic ENSG00000066583 NA NA NA NA NA 5q23.3 NA NA NA NA rs2287751 0.18 0.18 0.188 0.202276 0.1789 0.1825 0.2262 0.2201 0.2055 0.18 0.14 0.19 0.23 0.2098 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444422 NA NA 0.198967 0.21144 NA 0.268 NA 3.412333 1311 14 20403703 20403703 T C upstream OR4K1 NA NA NA upstream ENSG00000155249 NA NA NA NA NA 14q11.2 NA NA NA NA rs8015196 0.26 0.26 0.246 0.270767 0.2545 0.1786 0.2651 0.3457 0.2853 0.25 0.18 0.28 0.34 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073019 NA NA NA NA NA 0.275 NA 3.4121666 1311 14 92347680 92347680 A G exonic FBLN5 NA synonymous SNV FBLN5:NM_006329:exon9:c.T945C:p.I315I exonic ENSG00000140092 NA synonymous SNV ENSG00000140092:ENST00000342058:exon9:c.T945C:p.I315I,ENSG00000140092:ENST00000556154:exon9:c.T960C:p.I320I,ENSG00000140092:ENST00000267620:exon10:c.T1068C:p.I356I NA NA 14q32.12 NA NA NA NA rs2430347 0.8 0.8 0.786 0.784944 0.7525 0.8323 0.8415 0.7708 0.7485 0.75 0.85 0.85 0.77 0.7609 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71629 NA NA 0.741163 0.787335 NA 0.761 NA 3.4121036 1311 1 11735262 11735262 C T intronic MAD2L2 NA NA NA intronic ENSG00000116670 NA NA NA NA NA 1p36.22 NA NA NA NA rs2233027 0.14 0.14 0.109 0.151957 0.1899 0.1488 0.196 0.0537 0.2178 0.19 0.13 0.2 0.04 0.2027 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233161 NA NA 0.195581 0.077465 NA 0.167 NA 3.411819 1311 2 201460104 201460104 A G intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs7597590 0.3 0.3 0.296 0.277157 0.1759 0.4405 0.2709 0.2587 0.2423 0.18 0.45 0.25 0.33 0.233 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.208212 NA NA 0.179302 0.258057 NA 0.362 NA 3.411798 1311 6 18148019 18148019 G A intronic TPMT NA NA NA intronic ENSG00000137364 NA NA NA NA NA 6p22.3 NA NA Name=4 NA rs4449636 0.54 0.54 0.557 0.534145 0.5368 0.377 0.5591 0.7224 0.4213 0.54 0.38 0.53 0.75 0.5203 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714262 NA NA 0.53117 0.679982 NA 0.558 NA 3.41173 1311 7 138739816 138739816 C G intronic ZC3HAV1 NA NA NA intronic ENSG00000105939 NA NA NA NA NA 7q34 NA NA NA NA rs10261597 0.66 0.66 0.647 0.653155 0.5885 0.6925 0.6369 0.7057 0.6196 0.59 0.72 0.61 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559189 NA NA NA NA NA 0.572 NA 3.4115 1311 15 59464039 59464039 G A intronic MYO1E NA NA NA intronic ENSG00000157483 NA NA NA NA NA 15q22.2 NA NA NA NA rs2306788 0.38 0.38 0.358 0.317093 0.5885 0.3304 0.4323 0.0265 0.3354 0.58 0.31 0.51 0.04 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92344 NA NA NA NA NA 0.333 NA 3.4115 1311 19 4365397 4365397 T C intronic SH3GL1 NA NA NA intronic ENSG00000141985 NA NA NA NA NA 19p13.3 NA NA NA NA rs107288 0.71 0.71 0.715 0.738818 0.5885 0.7411 0.7709 0.9297 0.6104 0.57 0.72 0.74 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648654 NA NA NA NA NA 0.732 NA 3.4115 1311 17 4880320 4880320 T C intronic CAMTA2 NA NA NA intronic ENSG00000108509 NA NA NA NA NA 17p13.2 NA NA NA NA rs16954309 0.18 0.18 0.16 0.178914 0.2078 0.0972 0.1988 0.2791 0.0838 0.21 0.1 0.17 0.23 0.1877 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352107 NA NA 0.193023 0.259646 NA 0.225 NA 3.411477 1311 4 57272620 57272620 T C intronic PPAT NA NA NA intronic ENSG00000128059 NA NA NA NA NA 4q12 NA NA NA NA rs2271923 0.29 0.29 0.263 0.300919 0.173 0.4097 0.4179 0.2398 0.32 0.18 0.42 0.38 0.23 0.2402 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407101 NA NA 0.175349 0.233999 NA 0.246 NA 3.411451 1311 17 74647749 74647749 G C intergenic ST6GALNAC1,MXRA7 dist=7855;dist=24060 NA NA intergenic ENSG00000070526,ENSG00000199735 dist=7829;dist=4653 NA NA Score=397;Name=lod=55 NA 17q25.1 NA NA NA NA rs7223597 0.92 0.92 0.905 0.926917 0.9225 1 0.9366 0.8366 0.9714 0.92 1 0.92 0.83 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.013823 NA NA NA NA NA 0.877 NA 3.4108334 1311 2 98254344 98254344 A G intergenic ANKRD36B,COX5B dist=47916;dist=8177 NA NA upstream ENSG00000228970 NA NA NA NA NA 2q11.2 NA NA NA NA rs113911618 0.05 0.05 0.049 0.0427316 0.0895 NA 0.072 0.034 0.0297 0.09 NA 0.09 0.02 NA 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780767 NA NA NA NA NA 0.043 NA 3.4105 1311 7 148907849 148907849 G A intronic ZNF282 NA NA NA intronic ENSG00000170265 NA NA NA NA NA 7q36.1 NA NA NA NA rs10952805 0.59 0.59 0.542 0.572284 0.5895 0.8681 0.6585 0.112 0.8108 0.61 0.9 0.64 0.14 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855753 NA NA NA NA NA 0.609 NA 3.4105 1311 14 91759751 91759751 C T intronic CCDC88C NA NA NA intronic ENSG00000015133 NA NA NA NA NA 14q32.11 NA NA NA NA rs74209170 NA NA NA 0.59385 0.5895 0.5982 0.6138 0.5961 0.5767 NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320359 NA NA NA NA NA 0.014 NA 3.4105 1311 3 54962013 54962013 A C UTR5 LRTM1 NM_020678:c.-75T>G NA NA UTR5 ENSG00000144771 ENST00000273286:c.-75T>G NA NA NA NA 3p14.3 NA NA NA NA rs56327704 0.52 0.52 0.47 0.49381 0.494 0.75 0.6499 0.1838 0.5378 0.49 0.76 0.63 0.18 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374734 NA NA 0.428975 0.234104 NA 0.486 NA 3.4103584 1311 13 114507840 114507840 G A intronic TMEM255B NA NA NA intronic ENSG00000184497 NA NA NA NA NA 13q34 NA Name=CTCF NA NA rs7332019 0.56 0.56 0.494 0.572883 0.5278 0.8591 0.5706 0.2451 0.7689 0.53 0.85 0.55 0.26 0.5583 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201274 NA NA 0.503837 0.290645 NA 0.37 NA 3.410063 1311 5 1409985 1409985 C T intronic SLC6A3 NA NA NA intronic ENSG00000142319 NA NA NA NA NA 5p15.33 NA NA NA NA rs8179029 0.14 0.14 0.13 0.123802 0.2276 0.0893 0.1527 0.0575 0.1217 0.22 0.08 0.19 0.06 0.157 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458244 NA NA 0.205513 0.07172 NA 0.051 NA 3.409887 1311 15 63958105 63958105 A G intronic HERC1 NA NA NA intronic ENSG00000103657 NA NA NA NA NA 15q22.31 NA NA NA NA rs10152174 0.13 0.13 0.142 0.126797 0.2177 0.001 0.111 0.1082 0.1994 0.23 0.0017 0.14 0.11 0.1738 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774783 NA NA 0.198835 0.11061 NA 0.058 NA 3.409665 1311 2 224863090 224863090 C T intronic SERPINE2 NA NA NA intronic ENSG00000135919 NA NA NA NA NA 2q36.1 NA NA NA NA rs10170379 0.25 0.25 0.259 0.253994 0.1909 0.129 0.2161 0.4826 0.1656 0.18 0.13 0.24 0.48 0.2047 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648465 NA NA 0.194884 0.438238 NA 0.239 NA 3.409516 1311 3 196751474 196751474 C T intronic MFI2 NA NA NA intronic ENSG00000163975 NA NA NA NA NA 3q29 NA NA NA NA rs2280296 0.61 0.61 0.643 0.671126 0.5905 0.6319 0.4942 0.8116 0.7301 0.59 0.6 0.5 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399132 NA NA NA NA NA 0.696 NA 3.4095 1311 4 4275976 4275976 A C intronic LYAR NA NA NA intronic ENSG00000145220 NA NA NA NA NA 4p16.3 NA NA NA NA rs11723469 NA NA NA 0.534944 0.5905 0.5942 0.5634 0.3275 0.6769 NA NA NA NA NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684217 NA NA NA NA NA 0.594 NA 3.4095 1311 7 101196488 101196488 T C intronic COL26A1 NA NA NA intronic ENSG00000160963 NA NA NA NA NA 7q22.1 NA NA NA NA rs12674244 0.47 0.47 0.472 0.492412 0.5905 0.1806 0.4438 0.6573 0.5245 0.59 0.17 0.47 0.63 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605381 NA NA NA NA NA 0.623 NA 3.4095 1311 7 142471344 142471344 G A intergenic PRSS1,PRSS3P2 dist=10417;dist=7413 NA NA ncRNA_intronic ENSG00000250591 NA NA NA NA NA 7q34 NA NA NA NA rs56225909 0.48 0.48 0.44 0.324081 0.5905 0.2321 0.5101 0.0908 0.3282 0.61 0.3 0.55 0.45 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877336 NA NA NA NA NA 0.486 NA 3.4095 1311 17 78969386 78969386 G C intronic CHMP6 NA NA NA intronic ENSG00000176108 NA NA NA NA NA 17q25.3 NA NA NA NA rs4969333 0.61 0.61 0.614 0.604034 0.5905 0.5079 0.6628 0.7231 0.5143 0.59 0.52 0.63 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872201 NA NA NA NA NA 0.659 NA 3.4095 1311 11 62933774 62933774 C G intronic SLC22A25 NA NA NA UTR3 ENSG00000196600 ENST00000528239:c.*2478G>C NA NA NA NA 11q12.3 NA NA NA NA rs2226866 0.27 0.27 0.24 0.243211 0.2644 0.4435 0.2896 0.0477 0.2464 0.28 0.39 0.31 0.07 0.2619 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626678 NA NA 0.230921 0.073376 NA 0.268 NA 3.4094457 1311 16 1272865 1272865 G A exonic TPSG1 NA synonymous SNV TPSG1:NM_012467:exon4:c.C298T:p.L100L exonic ENSG00000116176 NA synonymous SNV ENSG00000116176:ENST00000234798:exon4:c.C298T:p.L100L NA NA 16p13.3 NA NA NA NA rs4984639 0.79 0.79 0.774 0.797923 0.7565 0.8988 0.768 0.7345 0.8436 0.75 0.93 0.76 0.7 0.7682 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149907 NA NA 0.732604 0.727666 NA 0.826 NA 3.4093626 1311 19 50519249 50519249 C T intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs1469693 0.27 0.27 0.282 0.255791 0.1809 0.3403 0.1744 0.3843 0.1299 0.19 0.33 0.2 0.4 0.2113 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13996 NA NA 0.199186 0.333182 NA 0.232 NA 3.408614 1311 12 47173830 47173830 G A intronic SLC38A4 NA NA NA intronic ENSG00000139209 NA NA NA NA NA 12q13.11 NA NA NA NA rs2287471 0.17 0.17 0.171 0.176318 0.1899 0.1438 0.1138 0.1846 0.229 0.2 0.12 0.14 0.21 0.1897 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.870087 3.870087 NA 0.211793 0.177258 ID=COSN164228;OCCURENCE=1(NS) 0.21 NA 3.408607 1311 12 6030165 6030165 G A intronic ANO2 NA NA NA intronic ENSG00000047617 NA NA NA NA NA 12p13.31 NA NA NA NA rs3825332 0.16 0.16 0.129 0.145367 0.2147 0.1855 0.1427 0.0348 0.184 0.21 0.18 0.17 0.03 0.1732 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251707 NA NA 0.203584 0.076076 NA 0.08 NA 3.408516 1311 1 13171847 13171847 A G intergenic PRAMEF5,LOC440563 dist=54096;dist=11113 NA NA downstream ENSG00000236179 NA NA NA NA NA 1p36.21 NA NA NA NA rs57674869 0.11 0.11 0.114 0.167532 0.0915 0.0546 0.0735 0.2663 0.2955 0.09 0.04 0.07 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386826 NA NA NA NA NA 0.145 NA 3.4085 1311 1 64680682 64680682 C G intronic UBE2U NA NA NA intronic ENSG00000177414 NA NA NA NA NA 1p31.3 NA NA NA NA rs825174 0.71 0.71 0.69 0.746805 0.5915 0.7034 0.6571 0.9781 0.7025 0.59 0.68 0.64 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.995655 NA NA NA NA NA 0.601 NA 3.4085 1311 5 149513072 149513072 A G intronic PDGFRB NA NA NA intronic ENSG00000113721 NA NA NA NA NA 5q32 NA NA NA NA rs2240780 0.56 0.56 0.534 0.560503 0.5915 0.5913 0.6023 0.4705 0.589 0.59 0.56 0.58 0.5 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757325 NA NA NA NA NA 0.457 NA 3.4085 1311 19 50519231 50519231 T C intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs1469694 0.27 0.27 0.277 0.255791 0.1809 0.3403 0.1744 0.3843 0.1299 0.19 0.33 0.2 0.4 0.2113 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263445 NA NA 0.199302 0.332955 NA 0.232 NA 3.408498 1311 15 25415809 25415809 C T upstream SNORD115-1 NA NA NA ncRNA_exonic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs2739838 0.73 0.73 0.687 0.712061 0.7584 0.998 0.8127 0.2458 0.9284 0.76 1 0.8 0.3 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385505 NA NA NA NA NA 0.659 NA 3.4082666 1311 1 157668427 157668427 G A intronic FCRL3 NA NA NA intronic ENSG00000160856 NA NA NA NA NA 1q23.1 NA NA NA NA rs12140725 0.17 0.17 0.159 0.141374 0.2058 0.1954 0.1729 0.0567 0.1115 0.21 0.2 0.19 0.08 0.1841 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462213 NA NA 0.20186 0.087154 NA 0.116 NA 3.40824 1311 1 6194347 6194347 T G intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs3765452 0.33 0.33 0.307 0.33726 0.17 0.6438 0.1599 0.3449 0.3088 0.17 0.66 0.19 0.31 0.2461 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062697 NA NA 0.175814 0.318883 NA 0.167 NA 3.408086 1311 4 66960186 66960186 T C intergenic LOC100144602,CENPC1 dist=401082;dist=1377803 NA NA ncRNA_exonic ENSG00000236562 NA NA NA NA NA 4q13.2 NA NA NA NA rs2726292 0.64 0.64 0.539 0.636182 0.5924 0.7837 0.6657 0.5166 0.6697 0.59 0.77 0.67 0.54 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180805 NA 1 NA NA NA 0.594 NA 3.4076 1311 5 147497932 147497932 T C intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs3777135 0.49 0.49 0.48 0.489816 0.5924 0.4841 0.6369 0.3162 0.5204 0.56 0.46 0.59 0.36 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632353 NA NA NA NA NA 0.471 NA 3.4076 1311 9 139405501 139405501 A G intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs9411206 0.75 0.75 0.735 0.750399 0.5924 0.8978 0.634 0.9448 0.5808 0.58 0.87 0.66 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384407 NA NA NA NA NA 0.717 NA 3.4076 1311 11 49854707 49854707 A C intergenic LOC440040,OR4C13 dist=22738;dist=119236 NA NA ncRNA_exonic ENSG00000219061 NA NA NA NA NA 11p11.12 NA NA NA NA rs1829951 0.5 0.5 0.455 0.492212 0.5924 0.5575 0.6326 0.2912 0.4939 0.59 0.53 0.63 0.21 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586467 NA 0.31 NA NA NA 0.058 NA 3.4076 1311 11 49920594 49920594 C T intergenic LOC440040,OR4C13 dist=88625;dist=53349 NA NA ncRNA_exonic ENSG00000254408 NA NA NA NA NA 11p11.12 NA NA NA NA rs847637 0.5 0.5 0.481 0.492212 0.5924 0.5565 0.634 0.2912 0.4939 0.59 0.55 0.64 0.21 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.595501 NA NA NA NA ID=COSN163934;OCCURENCE=1(breast) 0.5 NA 3.4076 1311 11 119185133 119185133 C T intronic MCAM NA NA NA intronic ENSG00000076706 NA NA NA NA NA 11q23.3 NA NA NA NA rs6589731 0.49 0.49 0.442 0.483626 0.5924 0.4028 0.6427 0.4039 0.4499 0.58 0.39 0.61 0.39 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816896 NA NA NA NA NA 0.377 NA 3.4076 1311 16 8851767 8851767 C T intronic ABAT NA NA NA intronic ENSG00000183044 NA NA NA NA NA 16p13.2 NA NA NA NA rs12930438 0.53 0.53 0.5 0.492812 0.5924 0.5813 0.621 0.264 0.5174 0.61 0.59 0.61 0.26 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253389 1.253389 NA NA NA NA 0.514 NA 3.4076 1311 16 77395948 77395948 C G intronic ADAMTS18 NA NA NA intronic ENSG00000140873 NA NA NA NA NA 16q23.1 NA NA NA NA rs1909802 0.48 0.48 0.511 0.46885 0.5924 0.3294 0.3271 0.497 0.5481 0.61 0.31 0.39 0.53 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435001 NA NA NA NA NA 0.565 NA 3.4076 1311 19 41928765 41928765 C T intronic BCKDHA NA NA NA intronic ENSG00000248098,ENSG00000255730 NA NA NA NA NA 19q13.2 NA NA NA NA rs284655 0.61 0.61 0.633 0.614018 0.5924 0.4325 0.4885 0.8457 0.5992 0.58 0.46 0.57 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031062 NA NA NA NA NA 0.688 NA 3.4076 1311 12 56088773 56088773 C T intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs2293410 0.58 0.58 0.525 0.589257 0.495 0.9296 0.6196 0.2716 0.7434 0.51 0.92 0.57 0.3 0.59 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540674 NA NA 0.507674 0.301861 NA 0.522 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079981.1;CLNDSDB=.;CLNDSDBID=. 3.407326 1311 14 23312869 23312869 G T intronic MMP14 NA NA NA intronic ENSG00000157227 NA NA NA NA NA 14q11.2 NA NA NA NA rs2236305 0.25 0.25 0.254 0.250399 0.1879 0.3552 0.1571 0.2685 0.2485 0.17 0.37 0.17 0.29 0.2083 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667242 NA NA 0.196744 0.253972 NA 0.239 NA 3.407056 1311 1 150483840 150483840 C T intronic ECM1 NA NA NA intronic ENSG00000143369 NA NA NA NA NA 1q21.3 NA NA NA NA rs4970979 0.52 0.52 0.53 0.466254 0.5934 0.2976 0.4856 0.5741 0.3497 0.61 0.33 0.54 0.58 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.358262 NA NA NA NA NA 0.594 NA 3.4066 1311 2 219510768 219510768 A G intronic ZNF142 NA NA NA intronic ENSG00000115568 NA NA NA NA NA 2q35 NA NA NA NA rs4674320 0.53 0.53 0.468 0.516973 0.5934 0.8214 0.5879 0.0711 0.6769 0.6 0.79 0.6 0.07 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776831 NA NA NA NA NA 0.37 NA 3.4066 1311 6 152523143 152523143 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs2635441 0.64 0.64 0.31 0.645567 0.5934 0.626 0.7176 0.6793 0.6227 0.57 0.64 0.67 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.156406 NA NA NA NA NA 0.58 NA 3.4066 1311 7 152549107 152549107 C T intronic ACTR3B NA NA NA intronic ENSG00000133627 NA NA NA NA NA 7q36.1 NA NA NA NA rs6944646 0.55 0.55 0.513 0.520567 0.5934 0.6637 0.7003 0.2481 0.5389 0.59 0.66 0.69 0.27 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114763 NA NA NA NA NA 0.442 NA 3.4066 1311 8 143957886 143957886 A C intronic CYP11B1 NA NA NA intronic ENSG00000104499,ENSG00000160882 NA NA NA NA NA 8q24.3 NA NA NA NA rs10105643 0.72 0.72 0.721 0.759385 0.5934 0.8472 0.6787 0.8941 0.7147 0.58 0.84 0.64 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05958 NA NA NA NA NA 0.739 NA 3.4066 1311 22 37494420 37494420 T C intronic TMPRSS6 NA NA NA intronic ENSG00000187045 NA NA NA NA NA 22q12.3 NA NA NA NA rs732756 0.16 0.16 0.156 0.13758 0.1899 0.1796 0.1182 0.0756 0.138 0.2 0.2 0.14 0.08 0.1839 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168766 NA NA 0.219651 0.089877 NA 0.159 NA 3.406549 1311 20 37654024 37654024 T G intronic DHX35 NA NA NA intronic ENSG00000101452 NA NA NA NA NA 20q12 NA NA NA NA rs3752301 0.17 0.17 0.167 0.163738 0.2177 0.1468 0.1513 0.09 0.2342 0.22 0.14 0.16 0.12 0.179 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108752 NA NA 0.197093 0.115978 NA 0.145 NA 3.406207 1311 3 197432063 197432063 T C intronic KIAA0226 NA NA NA intronic ENSG00000145016 NA NA NA NA NA 3q29 NA NA NA NA rs58507505 0.21 0.21 0.235 0.211062 0.2197 0.1052 0.1182 0.3873 0.1391 0.21 0.12 0.13 0.38 0.1832 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968727 NA NA 0.191303 0.339418 NA 0.283 NA 3.405797 1311 19 7624079 7624079 G A intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs538852 0.25 0.25 0.248 0.264976 0.1928 0.2242 0.2478 0.3979 0.2137 0.19 0.24 0.23 0.37 0.2106 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524516 NA NA 0.190814 0.369042 NA 0.268 NA 3.405786 1311 1 150483236 150483236 A C intronic ECM1 NA NA NA intronic ENSG00000143369 NA NA NA NA NA 1q21.3 NA NA NA NA rs9661040 0.55 0.55 0.564 0.505791 0.5944 0.2966 0.5014 0.7126 0.3538 0.61 0.33 0.56 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051738 NA NA NA NA NA 0.63 NA 3.4056 1311 7 50694457 50694457 A G intronic GRB10 NA NA NA intronic ENSG00000106070 NA NA NA NA NA 7p12.1 NA NA NA NA rs1468450 0.64 0.64 0.647 0.65615 0.5944 0.4444 0.5764 0.9652 0.5767 0.59 0.45 0.58 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654242 NA NA NA NA ID=COSN168055;OCCURENCE=1(large_intestine),1(endometrium) 0.645 NA 3.4056 1311 12 42305334 42305334 C G intergenic PDZRN4,GXYLT1 dist=336942;dist=170314 NA NA ncRNA_intronic ENSG00000257128,ENSG00000257239 NA NA NA NA NA 12q12 NA NA NA NA rs722217 0.36 0.36 0.3 0.346046 0.5944 0.1776 0.4914 0.0832 0.5164 0.61 0.17 0.52 0.08 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783897 NA NA NA NA NA 0.362 NA 3.4056 1311 16 5127721 5127721 G T intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 NA NA NA NA rs2302552 0.61 0.61 0.59 0.660942 0.5944 0.7133 0.5922 0.5953 0.8129 0.59 0.71 0.56 0.57 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555695 NA NA NA NA NA 0.543 NA 3.4056 1311 16 5416051 5416051 T C intergenic FAM86A,RBFOX1 dist=268262;dist=653081 NA NA ncRNA_exonic ENSG00000261007 NA NA NA NA NA 16p13.3 NA NA NA NA rs11865528 0.54 0.54 0.525 0.551318 0.5944 0.375 0.5533 0.6445 0.5613 0.59 0.4 0.58 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462413 NA NA NA NA NA 0.58 NA 3.4056 1311 18 74971219 74971219 G A intronic GALR1 NA NA NA intronic ENSG00000166573 NA NA NA NA NA 18q23 NA NA NA NA rs189710445 NA NA 0.504 0.509585 0.5944 0.4643 0.5893 0.3729 0.5971 NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91494 NA NA NA NA NA 0.145 NA 3.4056 1311 22 42390225 42390225 C G intronic SEPT3 NA NA NA intronic ENSG00000100167 NA NA NA NA NA 22q13.2 NA NA NA NA rs7290655 0.25 0.25 0.23 0.260982 0.2793 0.0585 0.3876 0.3472 0.2444 0.28 0.05 0.42 0.32 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20096 NA NA 0.315211 0.325867 NA 0.457 NA 3.405489 1311 7 149507964 149507964 C T intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs55776327 0.39 0.39 0.358 0.389577 0.2932 0.4097 0.3703 0.525 0.2986 0.28 0.41 0.39 0.53 0.334 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565213 NA NA 0.301008 0.488161 NA 0.348 NA 3.4051253 1311 12 56096816 56096816 T C intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs2293413 0.6 0.6 0.539 0.612021 0.494 0.9296 0.6282 0.351 0.7474 0.51 0.92 0.59 0.38 0.5902 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.335326 NA NA 0.510698 0.371993 NA 0.543 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079988.1;CLNDSDB=.;CLNDSDBID=. 3.405102 1312 12 7069425 7069425 G C intronic PTPN6 NA NA NA intronic ENSG00000111679 NA NA NA NA NA 12p13.31 NA NA NA NA rs28579154 0.57 0.57 NA NA NA NA NA NA NA 0.61 0.65 0.55 0.43 0.5952 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716066 NA NA NA NA NA 0.428 NA 3.4048 1312 3 119534153 119534153 C T intronic NR1I2 NA NA NA intronic ENSG00000144852 NA NA NA NA NA 3q13.33 NA NA NA NA rs2276707 0.3 0.3 0.275 0.319688 0.167 0.4663 0.1859 0.4175 0.2883 0.17 0.47 0.2 0.38 0.2442 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92141 NA NA 0.18407 0.356332 NA 0.254 NA 3.40473 1312 11 71527895 71527895 C T intergenic ALG1L9P,DEFB108B dist=2990;dist=16351 NA NA ncRNA_exonic ENSG00000214534 NA NA NA NA NA 11q13.4 NA NA NA NA rs10898678 0.35 0.35 0.391 0.425319 0.5954 0.3651 0.3674 0.2526 0.5869 0.47 0.31 0.35 0.22 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.457581 NA 0.24 NA NA NA NA NA 3.4046 1312 1 168262299 168262299 C T intronic TBX19 NA NA NA intronic ENSG00000143178 NA NA NA NA NA 1q24.2 NA NA NA NA rs7520743 0.42 0.42 0.431 0.369808 0.5954 0.4058 0.3501 0.202 0.3415 0.6 0.41 0.39 0.2 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489103 NA NA NA NA NA 0.413 NA 3.4046 1312 2 141816731 141816731 C T intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs1525580 0.43 0.43 0.408 0.413139 0.5954 0.255 0.4625 0.3495 0.4397 0.58 0.26 0.47 0.37 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44338 NA NA NA NA NA 0.399 NA 3.4046 1312 6 29961618 29961618 A G intergenic HCG9,ZNRD1-AS1 dist=15441;dist=7170 NA NA downstream ENSG00000224312,ENSG00000238024 NA NA NA NA NA 6p22.1 NA NA NA NA rs9260974 0.19 0.19 0.2 0.191294 0.0954 0.1885 0.1744 0.2995 0.1585 0.09 0.2 0.2 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.940477 NA NA NA NA NA 0.167 NA 3.4046 1312 12 7942472 7942472 A G intronic NANOG NA NA NA intronic ENSG00000111704 NA NA NA NA NA 12p13.31 NA NA NA NA rs12826131 0.38 0.38 NA 0.443091 0.5954 0.1438 0.5548 0.4168 0.5511 0.54 0.11 0.49 0.38 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323884 NA NA NA NA NA NA NA 3.4046 1312 12 7942473 7942473 G A intronic NANOG NA NA NA intronic ENSG00000111704 NA NA NA NA NA 12p13.31 NA NA NA NA rs12821706 NA NA NA 0.443091 0.5954 0.1438 0.5548 0.4168 0.5511 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.472836 1.472836 NA NA NA NA NA NA 3.4046 1312 17 20015123 20015123 G T intronic SPECC1 NA NA NA intronic ENSG00000128487 NA NA NA NA NA 17p11.2 NA NA NA NA rs35602968 NA NA NA 0.465056 0.5954 0.2014 0.5231 0.6256 0.3446 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95463 NA NA NA NA NA NA NA 3.4046 1312 4 7820795 7820795 G A intronic AFAP1 NA NA NA intronic ENSG00000196526 NA NA NA NA NA 4p16.1 NA NA NA NA rs35726835 0.12 0.12 0.106 0.0932508 0.2157 0.0536 0.1153 0.034 0.0726 0.21 0.05 0.15 0.04 0.1669 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391982 NA NA 0.212907 0.059918 NA 0.123 NA 3.404493 1312 4 183674597 183674597 A C intronic TENM3 NA NA NA intronic ENSG00000218336 NA NA NA NA NA 4q35.1 NA NA NA NA rs71620945 0.12 0.12 0.106 0.101038 0.2048 0.0357 0.1686 0.0295 0.1104 0.21 0.04 0.14 0.04 0.1725 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.276491 NA NA 0.218453 0.067334 NA 0.072 NA 3.404247 1312 3 100567592 100567592 T C intronic ABI3BP NA NA NA intronic ENSG00000154175 NA NA NA NA NA 3q12.2 NA NA NA NA rs6773877 0.29 0.29 0.258 0.317692 0.3022 0.0784 0.3573 0.4788 0.3344 0.32 0.09 0.31 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285439 NA NA 0.294155 0.437139 NA 0.29 NA 3.403645 1312 2 240085674 240085674 C T intronic HDAC4 NA NA NA intronic ENSG00000068024 NA NA NA NA NA 2q37.3 NA NA NA NA rs13010577 0.42 0.42 0.411 0.469249 0.5964 0.2808 0.3314 0.4213 0.6953 0.59 0.27 0.37 0.4 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147397 NA NA NA NA NA 0.391 NA 3.4036 1312 11 7439093 7439093 G T intronic SYT9 NA NA NA intronic ENSG00000170743 NA NA NA NA NA 11p15.4 NA NA NA NA rs4757993 0.4 0.4 0.39 0.36861 0.5964 0.1905 0.4294 0.2579 0.4243 0.58 0.21 0.48 0.29 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034174 NA NA NA NA NA 0.29 NA 3.4036 1312 16 24881192 24881192 C A intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs2667751 0.13 0.13 0.115 0.120807 0.2207 0.0169 0.1441 0.1089 0.1247 0.21 0.02 0.17 0.11 0.1698 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512177 NA NA 0.20593 0.130405 NA 0.196 NA 3.40357 1312 2 152409809 152409809 C A intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs4575719 0.56 0.56 0.525 0.494609 0.5974 0.5496 0.647 0.4009 0.3507 0.58 0.6 0.64 0.43 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821887 NA NA NA NA NA 0.551 NA 3.4026 1312 17 61829989 61829989 C T intronic CCDC47 NA NA NA intronic ENSG00000108588 NA NA NA NA NA 17q23.3 NA NA NA NA rs3785572 0.68 0.68 0.692 0.726238 0.5974 0.5565 0.6772 0.9569 0.7566 0.6 0.59 0.63 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511489 NA NA NA NA NA 0.681 NA 3.4026 1312 19 7970635 7970635 A G intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs4804833 0.56 0.56 0.522 0.541933 0.5974 0.5704 0.647 0.4319 0.5297 0.59 0.58 0.61 0.46 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259687 NA NA NA NA NA 0.5 NA 3.4026 1312 20 40979160 40979160 T C intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs2071854 0.71 0.71 0.712 0.728235 0.5974 0.9067 0.7248 0.7042 0.7137 0.6 0.9 0.67 0.71 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546819 NA NA NA NA NA 0.746 NA 3.4026 1312 4 83411197 83411197 T C intronic TMEM150C NA NA NA intronic ENSG00000249242 NA NA NA NA NA 4q21.22 NA NA NA NA rs2276884 0.19 0.19 0.194 0.168331 0.2028 0.1389 0.2046 0.2005 0.0941 0.2 0.15 0.22 0.22 0.1963 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511632 1.511632 NA 0.198588 0.174548 NA 0.13 NA 3.402312 1312 19 58956888 58956888 A G intergenic ZNF132,ZNF324B dist=5299;dist=6083 NA NA ncRNA_exonic ENSG00000269473 NA NA NA NA NA 19q13.43 NA NA NA NA rs12972898 0.14 0.14 0.149 0.136581 0.2306 0.0546 0.17 0.0908 0.1626 0.22 0.06 0.18 0.1 0.1746 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090535 NA NA 0.192617 0.10274 NA 0.159 NA 3.402183 1312 16 1720844 1720844 A G intronic CRAMP1L NA NA NA intronic ENSG00000007545,ENSG00000261732 NA NA NA NA NA 16p13.3 NA NA NA NA rs2272893 0.37 0.37 0.358 0.415535 0.161 0.5298 0.3213 0.5991 0.3783 0.15 0.52 0.3 0.61 0.2735 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803952 NA NA 0.163471 0.508797 NA 0.304 NA 3.402029 1312 1 111922854 111922854 G A intergenic PIFO,PGCP1 dist=27215;dist=4287 NA NA upstream ENSG00000236012 NA NA NA NA NA 1p13.2 NA NA NA NA rs12035026 0.13 0.13 0.126 0.145168 0.0984 0.3343 0.0706 0.0182 0.2229 0.1 0.32 0.07 0.01 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56939 NA NA NA NA NA 0.08 NA 3.4016 1312 4 9707740 9707740 G A intergenic MIR548I2,DRD5 dist=149803;dist=75518 NA NA ncRNA_intronic ENSG00000251087 NA NA NA NA NA 4p16.1 NA NA NA NA rs13122952 0.49 0.49 0.421 0.417332 0.5984 0.372 0.4813 0.3056 0.3834 0.63 0.45 0.58 0.25 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694171 NA NA NA NA NA 0.312 NA 3.4016 1312 6 76029760 76029760 G A intronic FILIP1 NA NA NA intronic ENSG00000118407 NA NA NA NA NA 6q14.1 NA NA NA NA rs4275021 0.57 0.57 0.565 0.604832 0.5984 0.4712 0.5706 0.6762 0.6769 0.6 0.44 0.59 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687692 NA NA NA NA NA 0.674 NA 3.4016 1312 9 95650107 95650107 A G intergenic ZNF484,FGD3 dist=9787;dist=59494 NA NA ncRNA_exonic ENSG00000226668 NA NA NA NA NA 9q22.31 NA NA NA NA rs7868874 0.71 0.71 0.713 0.718251 0.5984 0.748 0.6225 0.8638 0.682 0.59 0.77 0.67 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727535 NA NA NA NA NA 0.696 NA 3.4016 1312 10 13231194 13231194 A G intronic MCM10 NA NA NA intronic ENSG00000065328 NA NA NA NA NA 10p13 NA NA NA NA rs2296221 0.49 0.49 0.474 0.500599 0.5984 0.3611 0.5389 0.4448 0.592 0.6 0.33 0.56 0.46 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742847 NA NA NA NA NA 0.464 NA 3.4016 1312 10 103588734 103588734 A G intronic KCNIP2 NA NA NA intronic ENSG00000120049 NA NA NA NA NA 10q24.32 NA NA NA NA rs1562364 0.62 0.62 0.569 0.541933 0.5984 0.75 0.5317 0.441 0.4131 0.61 0.77 0.57 0.49 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262879 NA NA NA NA NA 0.609 NA 3.4016 1312 17 61898135 61898135 C A intronic FTSJ3 NA NA NA intronic ENSG00000108592 NA NA NA NA NA 17q23.3 NA NA NA NA rs2665836 0.66 0.66 0.59 0.732428 0.5984 0.5556 0.6801 0.9781 0.7577 0.58 0.55 0.61 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708503 NA NA NA NA NA 0.659 NA 3.4016 1312 11 400109 400109 A G exonic PKP3 NA synonymous SNV PKP3:NM_007183:exon6:c.A1416G:p.A472A exonic ENSG00000184363 NA synonymous SNV ENSG00000184363:ENST00000331563:exon6:c.A1416G:p.A472A NA NA 11p15.5 NA NA NA NA rs8858 0.86 0.86 0.858 0.897364 0.7475 0.998 0.7421 0.9811 0.9448 0.75 1 0.75 0.97 0.7928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.90631 NA NA 0.724836 0.93588 NA 0.768 NA 3.4015306 1312 1 1225959 1225959 C G intronic SCNN1D NA NA NA intronic ENSG00000162572 NA NA NA NA NA 1p36.33 NA NA NA NA rs1570867 0.52 0.52 0.455 0.56869 0.1243 0.877 0.4841 0.7148 0.5706 0.13 0.89 0.45 0.73 0.3432 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212905 NA NA 0.130997 0.62963 NA 0.435 NA 3.401503 1312 12 18747387 18747387 A G intronic PIK3C2G NA NA NA intronic ENSG00000139144 NA NA NA NA NA 12p12.3 NA NA NA NA rs12827507 0.16 0.16 0.161 0.160543 0.1829 0.1925 0.1945 0.0522 0.227 0.18 0.22 0.19 0.04 0.2211 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68971 NA NA 0.194568 0.073198 NA 0.196 NA 3.401432 1312 1 32207581 32207581 T G intronic BAI2 NA NA NA intronic ENSG00000121753 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297600 0.34 0.34 0.308 0.383187 0.163 0.2341 0.2651 0.7542 0.3456 0.18 0.21 0.28 0.76 0.2608 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944984 NA NA 0.174884 0.649569 NA 0.377 NA 3.401316 1312 19 45024875 45024875 T C intronic CEACAM20 NA NA NA ncRNA_intronic ENSG00000176395 NA NA NA NA NA 19q13.31 NA NA NA NA rs12975863 NA NA NA 0.898962 0.9324 0.6746 0.9798 0.9955 0.908 NA NA NA NA NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281136 NA NA NA NA NA 0.877 NA 3.4009333 1312 6 31382770 31382770 A G intronic MICA NA NA NA ncRNA_intronic ENSG00000206337 NA NA NA NA NA 6p21.33 NA NA NA NA rs9266824 0.36 0.36 0.324 0.358227 0.3141 0.3006 0.4049 0.4554 0.2986 0.32 0.28 0.46 0.46 0.3293 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512898 NA NA 0.289126 0.398844 NA 0.312 NA 3.4008073 1312 14 75276079 75276079 C G intronic YLPM1 NA NA NA intronic ENSG00000119596 NA NA NA Score=523;Name=lod=178 NA 14q24.3 NA NA NA NA rs957345 0.47 0.47 0.456 0.439696 0.5378 0.5744 0.4885 0.3109 0.3395 0.53 0.53 0.49 0.3 0.5205 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471078 NA NA 0.540938 0.358968 NA 0.558 NA 3.400762 1312 16 23848762 23848762 G A intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 NA Name=Pol2 NA NA rs3729883 0.47 0.47 0.444 0.439896 0.5567 0.6567 0.4135 0.1377 0.5235 0.57 0.62 0.47 0.15 0.5145 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.753956 1.753956 NA 0.52814 0.215976 NA 0.457 NA 3.40066 1312 5 32789852 32789852 T C UTR3 NPR3 NM_001204376:c.*3401T>C,NM_001204375:c.*3401T>C,NM_000908:c.*3401T>C NA NA exonic ENSG00000181495 NA synonymous SNV ENSG00000181495:ENST00000326958:exon1:c.T345C:p.N115N NA NA 5p13.3 NA NA NA NA rs1173756 0.61 0.61 0.616 0.625998 0.508 0.6637 0.5418 0.7526 0.5971 0.52 0.64 0.53 0.76 0.566 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161074 NA NA 0.525349 0.726736 NA 0.572 NA 3.400651 1312 1 211452728 211452728 G A intronic RCOR3 NA NA NA intronic ENSG00000117625 NA NA NA NA NA 1q32.2 NA NA NA NA rs3767378 0.51 0.51 0.477 0.456669 0.5994 0.62 0.5764 0.1475 0.4744 0.6 0.63 0.6 0.16 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097897 NA NA NA NA NA 0.435 NA 3.4006 1312 2 74143990 74143990 T A intronic ACTG2 NA NA NA intronic ENSG00000163017 NA NA NA NA NA 2p13.1 NA NA NA NA rs1622752 0.48 0.48 0.439 0.470248 0.5994 0.5139 0.5461 0.2307 0.5624 0.61 0.53 0.52 0.2 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772894 NA NA NA NA NA 0.457 NA 3.4006 1312 4 76721705 76721705 C G intronic USO1 NA NA NA intronic ENSG00000138768 NA NA NA NA NA 4q21.1 NA NA NA NA rs2271472 0.61 0.61 0.556 0.561701 0.5994 0.7966 0.6513 0.3245 0.5378 0.61 0.83 0.68 0.32 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.510342 NA NA NA NA NA 0.543 NA 3.4006 1312 9 14740300 14740300 A G intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA NA NA rs2270528 0.63 0.63 0.613 0.599241 0.5994 0.7817 0.6311 0.4879 0.5389 0.59 0.79 0.62 0.49 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695246 NA NA NA NA NA 0.565 NA 3.4006 1312 12 125437236 125437236 A G intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs6488960 0.63 0.63 0.574 0.65615 0.5994 0.8462 0.6571 0.4448 0.8037 0.59 0.84 0.64 0.42 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424889 NA NA NA NA NA 0.5 NA 3.4006 1312 17 61878144 61878144 G A intronic DDX42 NA NA NA intronic ENSG00000198231 NA NA NA NA NA 17q23.3 NA NA NA NA rs2597634 0.68 0.68 0.692 0.732428 0.5994 0.5546 0.6816 0.9781 0.7566 0.6 0.58 0.64 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897238 NA NA NA NA NA 0.681 NA 3.4006 1312 11 85718641 85718641 T C intronic PICALM NA NA NA intronic ENSG00000073921 NA NA NA NA NA 11q14.2 NA NA NA NA rs10792821 0.25 0.25 0.251 0.232029 0.1948 0.4643 0.2118 0.0961 0.229 0.21 0.45 0.19 0.12 0.2125 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302845 NA NA 0.192415 0.123695 NA 0.174 NA 3.400285 1312 2 209030578 209030578 A G intronic C2orf80 NA NA NA intronic ENSG00000188674 NA NA NA NA NA 2q34 NA NA NA NA rs796281 0.32 0.32 0.289 0.305312 0.1819 0.5169 0.3948 0.2428 0.2352 0.19 0.54 0.35 0.24 0.2499 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.445075 2.445075 NA 0.167931 0.232017 NA 0.239 NA 3.400269 1312 11 59190499 59190499 T C upstream OR5A2 NA NA NA upstream ENSG00000172324 NA NA NA NA NA 11q12.1 NA NA NA NA rs11602535 0.22 0.22 0.211 0.1877 0.2664 0.121 0.1585 0.2103 0.1656 0.28 0.13 0.19 0.25 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10138 NA NA NA NA NA 0.159 NA 3.4002666 1312 19 34985466 34985466 C T intronic WTIP NA NA NA intronic ENSG00000142279 NA NA NA Score=300;Name=lod=22 NA 19q13.11 NA NA NA NA rs11671685 0.31 0.31 0.285 0.302117 0.5666 0.1498 0.3775 0.056 0.4663 0.55 0.13 0.41 0.07 0.4681 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.657491 3.657491 NA 0.565186 0.133467 NA 0.428 NA 3.400114 1312 12 109723079 109723079 T C intronic FOXN4 NA NA NA intronic ENSG00000139445 NA NA NA NA NA 12q24.11 NA NA NA NA rs10774644 NA NA NA 0.420727 0.4493 0.5655 0.3646 0.2655 0.4918 NA NA NA NA 0.1507 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623425 NA NA NA NA NA 0.007 NA 3.4 1312 5 52223516 52223516 C A intronic ITGA1 NA NA NA intronic ENSG00000213949 NA NA NA NA NA 5q11.2 NA NA NA NA rs10038773 0.23 0.23 0.235 0.28135 0.1839 0.2252 0.1398 0.3926 0.3896 0.19 0.17 0.17 0.39 0.2226 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157611 NA NA 0.193605 0.354063 NA 0.326 NA 3.399895 1312 22 26157144 26157144 A G intronic MYO18B NA NA NA intronic ENSG00000133454 NA NA NA NA NA 22q12.1 NA NA NA NA rs17623980 0.19 0.19 0.181 0.180312 0.2018 0.13 0.2118 0.2231 0.1299 0.21 0.12 0.2 0.25 0.1919 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676386 NA NA 0.206483 0.209797 NA 0.152 NA 3.399817 1312 9 85913590 85913590 A G intronic FRMD3 NA NA NA intronic ENSG00000172159 NA NA NA NA NA 9q21.32 NA NA NA NA rs11140011 0.52 0.52 0.485 0.482628 0.6004 0.6488 0.5447 0.1392 0.6104 0.61 0.62 0.56 0.21 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355871 NA NA NA NA NA 0.333 NA 3.3996 1312 10 81318820 81318820 G A intronic SFTPA2 NA NA NA intronic ENSG00000185303 NA NA NA NA NA 10q22.3 NA NA NA NA rs17880349 0.54 0.54 0.511 0.517971 0.6004 0.5327 0.5706 0.4516 0.4703 0.6 0.54 0.53 0.45 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726852 NA NA NA NA NA 0.5 NA 3.3996 1312 22 32463875 32463875 G A intronic SLC5A1 NA NA NA intronic ENSG00000100170 NA NA NA NA NA 22q12.3 NA NA NA NA rs135110 0.58 0.58 0.538 0.532548 0.6004 0.8452 0.6859 0.1112 0.6012 0.61 0.86 0.67 0.13 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443096 1.443096 NA NA NA NA 0.5 NA 3.3996 1312 12 23737566 23737566 G A intronic SOX5 NA NA NA intronic ENSG00000134532 NA NA NA NA NA 12p12.1 NA NA NA NA rs11046992 0.24 0.24 0.21 0.230431 0.3161 0.3204 0.1671 0.0726 0.3078 0.31 0.3 0.2 0.09 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596552 NA NA 0.284727 0.109104 NA 0.174 NA 3.399173 1312 17 5042346 5042346 C A intronic USP6 NA NA NA UTR5;UTR3 ENSG00000129204;ENSG00000129204 ENST00000304328:c.-4C>A;ENST00000575709:c.*28C>A NA NA NA NA 17p13.2 NA NA NA NA rs11870506 0.31 0.31 0.268 0.350439 0.2187 0.6032 0.2738 0.0711 0.6575 0.23 0.62 0.27 0.09 0.367 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151187 NA NA 0.182161 0.083716 NA 0.225 NA 3.3988057 1312 4 44712908 44712908 T C intronic GNPDA2 NA NA NA intronic ENSG00000163281 NA NA NA NA NA 4p12 NA NA NA NA rs3749582 0.47 0.47 0.447 0.440096 0.6014 0.4018 0.5202 0.289 0.4611 0.62 0.4 0.53 0.29 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026005 NA NA NA NA ID=COSN167191;OCCURENCE=1(large_intestine) 0.616 NA 3.3986 1312 4 44720248 44720248 T A intronic GNPDA2 NA NA NA intronic ENSG00000163281 NA NA NA NA NA 4p12 NA NA NA NA rs3792705 0.47 0.47 0.417 0.440096 0.6014 0.4018 0.5202 0.289 0.4611 0.62 0.4 0.53 0.29 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524516 NA NA NA NA NA 0.587 NA 3.3986 1312 5 33643308 33643308 A T intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs10065974 0.58 0.58 0.556 0.540335 0.6014 0.7153 0.6052 0.3585 0.4969 0.59 0.71 0.62 0.37 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657096 NA NA NA NA NA 0.478 NA 3.3986 1312 5 33643395 33643395 A T intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs10066043 0.58 0.58 0.562 0.540335 0.6014 0.7153 0.6052 0.3585 0.4969 0.59 0.71 0.62 0.37 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950563 NA NA NA NA NA 0.478 NA 3.3986 1312 8 56316340 56316340 C T intronic XKR4 NA NA NA intronic ENSG00000206579 NA NA NA NA NA 8q12.1 NA NA NA NA rs2658918 0.45 0.45 0.42 0.408347 0.6014 0.4643 0.428 0.143 0.4969 0.61 0.47 0.49 0.16 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768574 NA NA NA NA NA 0.29 NA 3.3986 1312 8 142231944 142231944 G A intronic SLC45A4 NA NA NA intronic ENSG00000022567 NA NA NA NA NA 8q24.3 NA NA NA NA rs6983780 0.69 0.69 0.17 0.691094 0.6014 0.8175 0.5793 0.7595 0.6401 0.57 0.81 0.64 0.76 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42095 NA NA NA NA NA NA NA 3.3986 1312 8 142231945 142231945 C G intronic SLC45A4 NA NA NA intronic ENSG00000022567 NA NA NA NA NA 8q24.3 NA NA NA NA rs59172574 0.69 0.69 0.19 0.691094 0.6014 0.8175 0.5793 0.7595 0.6401 0.57 0.81 0.65 0.76 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021187 NA NA NA NA NA NA NA 3.3986 1312 11 64707978 64707978 A G intronic C11orf85 NA NA NA intronic ENSG00000168070 NA NA NA NA NA 11q13.1 NA NA NA NA rs586616 0.35 0.35 0.322 0.302716 0.6014 0.1815 0.3012 0.1891 0.2751 0.6 0.16 0.36 0.16 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084749 NA NA NA NA NA 0.326 NA 3.3986 1312 14 90729565 90729565 G T intronic PSMC1 NA NA NA intronic ENSG00000100764 NA NA NA NA NA 14q32.11 NA NA NA NA rs4904663 0.53 0.53 0.51 0.52516 0.6014 0.4812 0.6398 0.3918 0.591 0.59 0.48 0.61 0.42 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880628 NA NA NA NA NA 0.522 NA 3.3986 1312 14 90729931 90729931 T C intronic PSMC1 NA NA NA intronic ENSG00000100764 NA NA NA NA NA 14q32.11 NA NA NA NA rs8022531 0.53 0.53 0.496 0.52516 0.6014 0.4812 0.6398 0.3918 0.591 0.59 0.48 0.61 0.42 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23201 NA NA NA NA NA 0.514 NA 3.3986 1312 14 90730265 90730265 G A intronic PSMC1 NA NA NA intronic ENSG00000100764 NA NA NA NA NA 14q32.11 NA NA NA NA rs2282030 0.53 0.53 0.513 0.52476 0.6014 0.4812 0.6383 0.3911 0.591 0.59 0.48 0.61 0.42 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132814 NA NA NA NA NA 0.522 NA 3.3986 1312 1 39766041 39766041 A G intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs41270803 0.15 0.15 0.137 0.121605 0.1938 0.1706 0.2061 0.0144 0.0818 0.19 0.17 0.21 0.02 0.1869 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712846 NA NA 0.220814 0.044031 NA 0.109 NA 3.398486 1312 12 110874504 110874504 T A intronic ARPC3 NA NA NA ncRNA_intronic ENSG00000258210 NA NA NA NA NA 12q24.11 NA NA NA NA rs201277439 0.41 0.41 0.068 0.440495 0.4503 0.4365 0.3746 0.5189 0.3753 0.42 0.44 0.34 0.42 0.3722 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032594 NA NA 0.112835 0.152164 NA NA NA 3.3979983 1312 1 39815344 39815344 G A intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs41270811 0.15 0.15 0.131 0.117812 0.1948 0.1577 0.2046 0.0121 0.0787 0.19 0.16 0.21 0.02 0.1851 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554626 NA NA 0.222209 0.044031 NA 0.109 NA 3.397891 1312 3 46482861 46482861 G A intronic LTF NA NA NA intronic ENSG00000012223 NA NA NA NA NA 3p21.31 NA NA NA NA rs34000233 0.19 0.19 0.184 0.196086 0.2137 0.2639 0.1729 0.0764 0.2863 0.22 0.26 0.16 0.09 0.2019 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624243 NA NA 0.186569 0.096913 NA 0.159 NA 3.397831 1312 6 159204786 159204786 C T intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA NA NA NA rs3123111 0.42 0.42 0.413 0.415136 0.6024 0.2063 0.3545 0.3918 0.5123 0.61 0.17 0.42 0.39 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412263 NA NA NA NA NA 0.449 NA 3.3976 1312 10 27461953 27461953 T A intronic MASTL NA NA NA intronic ENSG00000120539 NA NA NA NA NA 10p12.1 NA NA NA NA rs6482600 0.42 0.42 0.402 0.396765 0.6024 0.4375 0.4942 0.1293 0.4356 0.59 0.38 0.52 0.15 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695966 NA NA NA NA NA 0.399 NA 3.3976 1312 18 50994208 50994208 G T intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs1502229 0.49 0.49 0.499 0.48742 0.6024 0.2609 0.3934 0.6989 0.3834 0.59 0.25 0.46 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083817 NA NA NA NA NA 0.601 NA 3.3976 1312 9 22451031 22451031 G A intronic DMRTA1 NA NA NA intronic ENSG00000176399 NA NA NA NA NA 9p21.3 NA NA NA NA rs563802 0.31 0.31 0.279 0.318091 0.1799 0.2282 0.3602 0.5227 0.2464 0.18 0.24 0.36 0.53 0.2358 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15132 NA NA 0.186744 0.500454 ID=COSN168492;OCCURENCE=1(large_intestine) 0.268 NA 3.397556 1312 2 209028191 209028191 C T intronic CRYGA NA NA NA intronic ENSG00000168582 NA NA NA NA NA 2q34 NA NA NA NA rs796280 0.32 0.32 0.281 0.294129 0.1849 0.5258 0.4078 0.1846 0.2352 0.2 0.56 0.36 0.2 0.2499 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058028 NA NA 0.167674 0.183613 NA 0.225 NA 3.397526 1312 11 94908658 94908658 G T intronic SESN3 NA NA NA ncRNA_intronic ENSG00000245552 NA NA NA NA NA 11q21 NA NA NA NA rs11021065 0.26 0.26 0.222 0.257188 0.3201 0.2877 0.3199 0.146 0.2669 0.32 0.24 0.34 0.13 0.3035 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355443 NA NA 0.312471 0.186506 NA 0.37 NA 3.3972623 1312 10 103560186 103560186 A C intronic MGEA5 NA NA NA intronic ENSG00000198408 NA NA NA NA NA 10q24.32 NA NA NA NA rs2305194 0.29 0.29 0.29 0.275559 0.1899 0.5089 0.1974 0.208 0.2699 0.18 0.54 0.24 0.22 0.2335 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583833 NA NA 0.179419 0.207217 NA 0.312 NA 3.397181 1312 1 39913351 39913351 A G intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs2296173 0.15 0.15 0.129 0.11901 0.1958 0.1597 0.2061 0.0136 0.0787 0.2 0.16 0.21 0.02 0.1841 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.323095 NA NA 0.222959 0.045847 NA 0.109 NA 3.397141 1312 19 39977173 39977173 G A intronic TIMM50 NA NA NA intronic ENSG00000105197 NA NA NA NA NA 19q13.2 NA NA NA NA rs8112528 0.17 0.17 0.165 0.186102 0.2018 0.0714 0.1744 0.211 0.2628 0.21 0.07 0.22 0.21 0.2049 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623732 NA NA 0.196279 0.200635 NA 0.13 NA 3.397021 1312 20 24959386 24959386 C A intronic APMAP NA NA NA intronic ENSG00000101474 NA NA NA NA NA 20p11.21 NA NA NA NA rs56312312 0.14 0.14 0.12 0.133387 0.2038 0.0635 0.1715 0.093 0.1605 0.2 0.08 0.2 0.11 0.2241 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.995642 NA NA 0.175349 0.08965 NA 0.058 NA 3.396751 1312 10 61062538 61062538 T C intronic FAM13C NA NA NA intronic ENSG00000148541 NA NA NA NA NA 10q21.1 NA NA NA NA rs72808548 0.18 0.18 0.153 0.165535 0.2197 0.2619 0.1801 0.0227 0.1933 0.21 0.25 0.2 0.03 0.1896 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108342 NA NA 0.193953 0.052655 NA 0.13 NA 3.396747 1312 1 47689842 47689842 C G intronic TAL1 NA NA NA intronic ENSG00000162367 NA NA NA NA NA 1p33 NA NA NA NA rs34087210 0.34 0.34 0.317 0.326078 0.6034 0.0139 0.4164 0.23 0.4284 0.61 0.0035 0.49 0.23 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420386 NA NA NA NA NA 0.413 NA 3.3966 1312 7 4215298 4215298 T C intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs4720185 0.59 0.59 0.539 0.549321 0.6034 0.6895 0.6715 0.32 0.5726 0.62 0.72 0.67 0.33 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289461 NA NA NA NA NA 0.601 NA 3.3966 1312 14 90752908 90752908 G T intronic NRDE2 NA NA NA intronic ENSG00000119720 NA NA NA NA NA 14q32.11 NA NA NA NA rs7160304 0.55 0.55 0.536 0.558307 0.6034 0.4891 0.6556 0.4992 0.5941 0.59 0.49 0.62 0.5 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285894 NA NA NA NA NA 0.522 NA 3.3966 1312 14 24529820 24529820 C G intronic LRRC16B NA NA NA intronic ENSG00000186648 NA NA NA NA NA 14q11.2 NA NA NA NA rs1951636 0.21 0.21 0.204 0.209465 0.1948 0.3562 0.1268 0.0915 0.2914 0.19 0.38 0.13 0.1 0.2011 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.587725 3.587725 NA 0.207674 0.091693 NA 0.29 NA 3.396426 1312 1 33960062 33960062 A G exonic ZSCAN20 NA synonymous SNV ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A exonic ENSG00000121903 NA synonymous SNV ENSG00000121903:ENST00000361328:exon8:c.A2118G:p.A706A NA NA 1p35.1 NA NA NA NA rs9943259 0.75 0.75 0.775 0.752596 0.7376 0.7381 0.6239 0.8495 0.7434 0.74 0.75 0.65 0.83 0.7443 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.773345 NA NA 0.788353 0.840241 NA 0.855 NA 3.3964136 1312 19 35761519 35761519 A G intronic USF2 NA NA NA intronic ENSG00000105698 NA NA NA NA NA 19q13.12 NA NA NA NA rs28365133 0.12 0.12 0.109 0.118011 0.2187 0.0258 0.1167 0.0605 0.1881 0.21 0.01 0.15 0.07 0.1774 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.277258 NA NA 0.207558 0.093282 NA 0.072 NA 3.396342 1312 16 15872609 15872609 A G intronic MYH11 NA NA NA intronic ENSG00000133392 NA NA NA NA NA 16p13.11 NA NA NA NA rs2075514 0.22 0.22 0.201 0.197883 0.2008 0.3234 0.1369 0.1657 0.1524 0.21 0.32 0.15 0.17 0.196 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535284 NA NA 0.207093 0.174784 NA 0.13 NA 3.396107 1312 1 181754803 181754803 C T intronic CACNA1E NA NA NA intronic ENSG00000198216 NA NA NA NA NA 1q25.3 NA NA NA NA rs473200 0.22 0.22 0.209 0.247005 0.2058 0.2748 0.1873 0.2534 0.2945 0.22 0.23 0.2 0.22 0.2117 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944302 NA NA 0.186449 0.222341 NA 0.188 NA 3.396051 1312 3 10219508 10219508 T C intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs2306696 0.17 0.17 0.133 0.177117 0.2117 0.1022 0.3501 0.0832 0.2229 0.21 0.1 0.32 0.1 0.1972 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053922 NA NA 0.195116 0.09192 NA 0.167 NA 3.395984 1312 2 88289368 88289368 G A intergenic RGPD1,KRCC1 dist=4059;dist=37356 NA NA intergenic ENSG00000185304,ENSG00000238979 dist=4059;dist=21253 NA NA Score=537;Name=lod=203 NA 2p11.2 NA NA NA NA rs10209326 0.92 0.92 0.901 0.915136 0.9374 0.994 0.938 0.7844 0.9714 0.95 1 0.95 0.77 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145658 NA NA NA NA NA 0.746 NA 3.3959334 1312 2 175622907 175622907 T C intronic CHRNA1 NA NA NA ncRNA_intronic ENSG00000236449 NA NA NA NA NA 2q31.1 NA NA NA NA rs2600687 0.91 0.91 0.9 0.902157 0.9374 1 0.9539 0.7247 0.9683 0.93 1 0.95 0.73 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531269 NA NA NA NA NA 0.884 NA 3.3959333 1312 1 19464773 19464773 C T intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs2274001 0.71 0.71 0.688 0.694888 0.6044 0.8105 0.7248 0.7587 0.5613 0.6 0.82 0.7 0.76 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393962 NA NA NA NA NA 0.681 NA 3.3956 1312 1 19488839 19488839 C A intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs1999967 0.72 0.72 0.693 0.71226 0.6044 0.8115 0.7305 0.8207 0.5613 0.6 0.82 0.71 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270976 NA NA NA NA NA 0.71 NA 3.3956 1312 1 225611845 225611845 C T intronic LBR NA NA NA intronic ENSG00000143815 NA NA NA NA NA 1q42.12 NA NA NA NA rs1340867 0.67 0.67 0.642 0.601837 0.6044 0.751 0.7205 0.5991 0.365 0.59 0.81 0.69 0.62 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123202 NA NA NA NA NA 0.601 NA 3.3956 1312 3 190028947 190028947 T C intronic CLDN1 NA NA NA intronic ENSG00000163347 NA NA NA NA NA 3q28 NA NA NA NA rs3774025 0.71 0.71 0.741 0.697484 0.6044 0.8036 0.6066 0.848 0.545 0.6 0.81 0.6 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514072 NA NA NA NA NA 0.688 NA 3.3956 1312 4 5747131 5747131 C A intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs13145958 0.49 0.49 0.458 0.491613 0.6044 0.3502 0.4769 0.4728 0.5573 0.61 0.3 0.49 0.51 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34158 NA NA NA NA NA 0.507 NA 3.3956 1312 4 9706478 9706478 C A intergenic MIR548I2,DRD5 dist=148541;dist=76780 NA NA ncRNA_intronic ENSG00000251087 NA NA NA NA NA 4p16.1 NA NA NA NA rs11943931 0.46 0.46 0.427 0.421925 0.6044 0.377 0.4885 0.3109 0.3834 0.6 0.39 0.55 0.25 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612366 NA NA NA NA NA 0.326 NA 3.3956 1312 19 281360 281360 C T UTR3 PPAP2C NM_003712:c.*28G>A,NM_177526:c.*28G>A,NM_177543:c.*28G>A NA NA UTR3 ENSG00000141934 ENST00000269812:c.*28G>A,ENST00000434325:c.*28G>A NA NA NA NA 19p13.3 NA NA NA NA rs7815 0.18 0.18 0.167 0.185903 0.3111 0.0923 0.1859 0.0658 0.316 0.29 0.09 0.23 0.1 0.2882 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071325 NA NA 0.338488 0.106446 NA 0.152 NA 3.3955454 1312 5 121187497 121187497 A G upstream FTMT NA NA NA upstream ENSG00000181867 NA NA NA NA NA 5q23.1 NA NA NA NA rs7720502 0.39 0.39 0.398 0.4377 0.2714 0.1825 0.2839 0.9175 0.3323 0.27 0.21 0.28 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140708 NA NA NA NA NA 0.391 NA 3.3952666 1312 10 27423744 27423744 T C intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs2275752 0.28 0.28 0.276 0.280351 0.2127 0.4018 0.1758 0.3048 0.2658 0.22 0.4 0.18 0.29 0.2162 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002343 NA NA 0.176047 0.303134 NA 0.246 NA 3.395053 1313 1 150437215 150437215 A G intronic RPRD2 NA NA NA intronic ENSG00000163125 NA NA NA NA NA 1q21.3 NA NA NA NA rs66513313 0.18 0.18 0.205 0.163538 0.2068 0.002 0.1182 0.3623 0.0491 0.23 0.0035 0.12 0.36 0.1916 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.149004 2.149004 NA 0.206609 0.311227 NA 0.232 NA 3.394991 1313 9 134518575 134518575 T C intronic RAPGEF1 NA NA NA intronic ENSG00000107263 NA NA NA NA NA 9q34.13 NA NA NA NA rs7854489 0.25 0.25 0.225 0.252796 0.3231 0.2569 0.2262 0.143 0.3436 0.32 0.26 0.24 0.14 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553992 NA NA 0.281917 0.125756 NA 0.275 NA 3.394983 1313 1 19441212 19441212 A G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs2274003 0.68 0.68 0.658 0.664137 0.6054 0.8006 0.7133 0.6611 0.5532 0.6 0.81 0.69 0.66 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736396 NA NA NA NA NA 0.696 NA 3.3946 1313 1 155981489 155981489 C G intronic SSR2 NA NA NA intronic ENSG00000163479 NA NA NA NA NA 1q22 NA NA NA NA rs1475766 0.4 0.4 0.39 0.416933 0.6054 0.1498 0.5375 0.3094 0.5583 0.6 0.13 0.51 0.33 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.819921 1.819921 NA NA NA NA 0.478 NA 3.3946 1313 1 158425115 158425115 C T intergenic OR10K2,OR10K1 dist=34459;dist=10237 NA NA downstream ENSG00000236257 NA NA NA NA NA 1q23.1 NA NA NA NA rs112207689 0.05 0.05 0.053 0.0385383 0.1054 NA 0.062 0.0045 0.0389 0.11 NA 0.07 0.01 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.561219 NA NA NA NA NA 0.022 NA 3.3946 1313 9 27608667 27608667 T C intergenic C9orf72,LINGO2 dist=34803;dist=339417 NA NA ncRNA_exonic ENSG00000215441 NA NA NA NA NA 9p21.2 NA NA NA NA rs4119808 0.48 0.48 0.438 0.470847 0.6054 0.3353 0.5807 0.3623 0.5409 0.59 0.33 0.55 0.41 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402298 NA NA NA NA NA 0.435 NA 3.3946 1313 9 101258881 101258881 T C intronic GABBR2 NA NA NA intronic ENSG00000136928 NA NA NA NA NA 9q22.33 NA NA NA NA rs1000440 0.49 0.49 0.509 0.491014 0.6054 0.1954 0.4553 0.7005 0.4202 0.61 0.18 0.48 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766395 NA NA NA NA NA 0.717 NA 3.3946 1313 11 69070800 69070800 C T intergenic MYEOV,CCND1 dist=6046;dist=385073 NA NA downstream ENSG00000213275 NA NA NA NA NA 11q13.3 NA NA NA NA rs4930676 0.14 0.14 0.128 0.171326 0.1054 0.245 0.0821 0.1324 0.2791 0.1 0.21 0.09 0.14 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622035 NA NA NA NA NA 0.152 NA 3.3946 1313 19 10071634 10071634 T C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs918542 0.67 0.67 0.681 0.678315 0.6054 0.5387 0.6225 0.9607 0.5552 0.62 0.53 0.62 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390399 NA NA NA NA NA 0.717 NA 3.3946 1313 20 10438780 10438780 A G intronic SLX4IP NA NA NA intronic ENSG00000149346 NA NA NA NA NA 20p12.2 NA NA NA NA rs6104617 0.39 0.39 0.339 0.352037 0.6054 0.1518 0.464 0.2519 0.3538 0.6 0.16 0.48 0.26 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849828 NA NA NA NA NA 0.29 NA 3.3946 1313 11 74877004 74877004 G A intronic SLCO2B1 NA NA NA intronic ENSG00000137491 NA NA NA NA NA 11q13.4 NA NA NA NA rs3740839 0.27 0.27 0.239 0.299521 0.175 0.3304 0.4467 0.2769 0.3221 0.16 0.35 0.4 0.26 0.2511 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742778 NA NA 0.179944 0.253864 NA 0.203 NA 3.393956 1313 1 19413420 19413420 T G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs2274008 0.72 0.72 0.705 0.718251 0.6064 0.8105 0.7334 0.8366 0.5675 0.6 0.82 0.7 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053761 NA NA NA NA NA 0.732 NA 3.3936 1313 1 19448608 19448608 C G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs7535738 0.68 0.68 0.658 0.664337 0.6064 0.8006 0.7133 0.6611 0.5532 0.6 0.81 0.69 0.66 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233529 NA NA NA NA NA 0.696 NA 3.3936 1313 8 27467821 27467821 C G intronic CLU NA NA NA intronic ENSG00000120885 NA NA NA NA NA 8p21.1 NA NA NA NA rs2070926 0.74 0.74 0.751 0.764776 0.6064 0.7907 0.6801 0.944 0.7188 0.6 0.81 0.67 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094607 NA NA NA NA NA 0.688 NA 3.3936 1313 9 98175763 98175763 G A intergenic FANCC,PTCH1 dist=95772;dist=29501 NA NA upstream ENSG00000213761 NA NA NA NA NA 9q22.32 NA NA NA NA rs357562 0.09 0.09 0.09 0.0652955 0.1064 0.119 0.0735 0.0091 0.0378 0.12 0.13 0.07 0.0041 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234404 NA NA NA NA NA 0.036 NA 3.3936 1313 9 135601367 135601367 G C intronic AK8 NA NA NA intronic ENSG00000165695 NA NA NA NA NA 9q34.13 NA NA NA NA rs396801 0.63 0.63 0.604 0.61262 0.6064 0.504 0.7378 0.6732 0.5603 0.61 0.55 0.7 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.715985 NA NA NA NA NA 0.594 NA 3.3936 1313 5 44305309 44305309 C G intronic FGF10 NA NA NA intronic ENSG00000070193 NA NA NA NA NA 5p12 NA NA NA NA rs2290070 0.19 0.19 0.153 0.183906 0.1938 0.1796 0.366 0.0651 0.2096 0.2 0.18 0.33 0.08 0.2161 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416793 NA NA 0.196744 0.095325 NA 0.174 NA 3.393356 1313 11 78277277 78277277 A G exonic NARS2 NA synonymous SNV NARS2:NM_024678:exon4:c.T414C:p.Y138Y exonic ENSG00000137513 NA synonymous SNV ENSG00000137513:ENST00000281038:exon4:c.T414C:p.Y138Y,ENSG00000137513:ENST00000529880:exon4:c.T414C:p.Y138Y NA NA 11q14.1 NA NA NA NA rs10751296 0.65 0.65 0.647 0.650559 0.7664 0.5794 0.6023 0.5991 0.7086 0.77 0.54 0.66 0.59 0.7162 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795957 NA NA 0.790725 0.623864 NA 0.732 NA 3.3933416 1313 14 106877947 106877947 A G intergenic LINC00226,LINC00221 dist=132981;dist=60508 NA NA intronic ENSG00000211959 NA NA NA NA NA 14q32.33 NA NA NA NA rs73367262 NA NA 0.181 NA NA NA NA NA NA NA NA NA NA 0.2734 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090931 NA NA NA NA NA 0.007 NA 3.3932667 1313 20 3726687 3726687 G A intronic HSPA12B NA NA NA intronic ENSG00000132622 NA NA NA NA NA 20p13 NA NA NA NA rs41279388 0.15 0.15 0.139 0.148762 0.2137 0.2391 0.085 0.0061 0.227 0.21 0.23 0.08 0.01 0.1892 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463614 NA NA 0.20407 0.039719 NA 0.101 NA 3.39303 1313 12 100676960 100676960 C A intronic SCYL2 NA NA NA intronic ENSG00000136021 NA NA NA NA NA 12q23.1 NA NA NA NA rs7965910 0.19 0.19 0.207 0.185104 0.2227 0.0407 0.1527 0.3427 0.1053 0.21 0.05 0.15 0.35 0.1784 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346506 NA NA 0.206163 0.31094 NA 0.21 NA 3.392737 1313 1 12067044 12067044 T G intronic MFN2 NA NA NA intronic ENSG00000116688 NA NA NA NA NA 1p36.22 NA NA NA NA rs7550536 0.53 0.53 0.501 0.526757 0.6074 0.5456 0.4986 0.41 0.6022 0.62 0.51 0.51 0.44 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534753 NA NA NA NA NA 0.457 NA 3.3926 1313 7 4259989 4259989 G C intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs13224208 0.58 0.58 0.621 0.604233 0.6074 0.369 0.4006 0.8729 0.6247 0.61 0.37 0.42 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048779 NA NA NA NA NA 0.594 NA 3.3926 1313 12 8914709 8914709 A G intronic RIMKLB NA NA NA intronic ENSG00000166532 NA NA NA NA NA 12p13.31 NA NA NA NA rs2969090 0.48 0.48 0.436 0.490415 0.6074 0.4663 0.4986 0.3101 0.6329 0.59 0.45 0.53 0.31 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34 NA NA NA NA NA 0.493 NA 3.3926 1313 19 47549791 47549791 A G intronic TMEM160 NA NA NA intronic ENSG00000130748 NA NA NA NA NA 19q13.32 NA NA NA NA rs1862499 0.53 0.53 0.492 0.470847 0.6074 0.6974 0.5375 0.2224 0.3855 0.61 0.68 0.51 0.24 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699177 NA NA NA NA NA 0.543 NA 3.3926 1313 5 54423075 54423075 C T intronic CDC20B NA NA NA intronic ENSG00000164287 NA NA NA NA NA 5q11.2 NA NA NA NA rs72766134 0.16 0.16 0.118 0.169728 0.2147 0.1865 0.147 0.0401 0.2975 0.22 0.16 0.16 0.05 0.2022 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.127204 NA NA 0.190814 0.061507 ID=COSM149838;OCCURENCE=1(stomach) 0.087 NA 3.392286 1313 12 39756878 39756878 G A intronic KIF21A NA NA NA intronic ENSG00000139116 NA NA NA NA NA 12q12 NA NA NA NA rs3736466 0.25 0.25 0.256 0.302316 0.1958 0.379 0.1888 0.2859 0.4356 0.18 0.35 0.2 0.27 0.2337 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014805 NA NA 0.178256 0.258738 NA 0.188 NA 3.392244 1313 15 74032234 74032234 C T UTR3 C15orf59 NM_001039614:c.*24G>A NA NA UTR3 ENSG00000205363 ENST00000569673:c.*24G>A,ENST00000379822:c.*24G>A NA NA NA NA 15q24.1 NA NA NA NA rs11857595 0.21 0.21 0.19 0.188898 0.3191 0.0675 0.2767 0.1657 0.1493 0.33 0.06 0.3 0.15 0.29 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601707 NA NA 0.332149 0.175097 NA 0.109 NA 3.3920844 1313 5 7859523 7859523 A G UTR3 FASTKD3 NM_024091:c.*25T>C NA NA UTR3 ENSG00000124279 ENST00000264669:c.*25T>C,ENST00000511261:c.*1277T>C,ENST00000507036:c.*308T>C NA NA NA NA 5p15.31 NA NA NA NA rs1046012 0.21 0.21 0.197 0.189696 0.3181 0.0506 0.1888 0.2345 0.1411 0.33 0.03 0.2 0.24 0.2886 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712019 NA NA 0.334729 0.236483 NA 0.174 NA 3.3919044 1313 16 78142308 78142308 G T intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs67493355 NA NA NA 0.292532 0.3221 0.2063 0.2565 0.3941 0.2393 NA NA NA NA 0.286 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574667 NA NA NA NA NA 0.087 NA 3.3919 1313 19 40224894 40224894 C T intronic CLC NA NA NA intronic ENSG00000105205 NA NA NA NA NA 19q13.2 NA NA NA NA rs2074927 0.16 0.16 0.134 0.185304 0.2097 0.1667 0.2262 0.056 0.3252 0.21 0.17 0.17 0.07 0.2079 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868596 NA NA 0.190581 0.074671 NA 0.116 NA 3.391819 1313 X 301992 301992 G A intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs6645142 0.33 0.33 0.34817 NA NA NA NA NA NA 0.32 0.39 0.27 0.35 0.3028 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011554 NA NA 0.305387 0.334193 NA 0.022 NA 3.391813 1313 21 18933828 18933828 A G intronic CXADR NA NA NA intronic ENSG00000154639 NA NA NA NA NA 21q21.1 NA NA NA NA rs2824359 0.18 0.18 0.167 0.175519 0.2068 0.2183 0.196 0.0749 0.2209 0.21 0.22 0.2 0.06 0.1995 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501693 NA NA 0.201907 0.101726 ID=COSN166621;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.138 NA 3.391793 1313 9 35679061 35679061 C T intronic CA9 NA NA NA intronic ENSG00000107159 NA NA NA NA NA 9p13.3 NA NA NA NA rs2857802 0.56 0.56 0.585 0.547125 0.6083 0.3909 0.5605 0.6407 0.5092 0.63 0.4 0.6 0.62 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764553 NA NA NA NA NA 0.638 NA 3.3917 1313 10 30978164 30978164 A G intergenic LYZL2,ZNF438 dist=59517;dist=155401 NA NA ncRNA_intronic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA NA NA rs28363791 0.55 0.55 0.501 0.555312 0.6083 0.4325 0.5908 0.5703 0.5818 0.62 0.42 0.61 0.54 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020002 NA NA NA NA NA 0.37 NA 3.3917 1313 15 34544351 34544351 C A intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs2290941 0.2 0.2 0.18 0.206869 0.2068 0.2817 0.2017 0.1256 0.2434 0.22 0.27 0.2 0.11 0.2313 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011218 NA NA 0.170391 0.124943 NA 0.094 NA 3.391509 1313 16 89613037 89613037 G A intronic SPG7 NA NA NA intronic ENSG00000197912 NA NA NA NA NA 16q24.3 NA NA NA NA rs462464 0.19 0.19 0.179 0.19389 0.1958 0.1508 0.1499 0.2171 0.2362 0.2 0.16 0.16 0.22 0.198 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.849605 NA NA 0.214767 0.208144 NA 0.123 NA 3.391433 1313 7 142162278 142162278 C T intergenic LOC730441,MTRNR2L6 dist=190210;dist=211853 NA NA intronic ENSG00000211724 NA NA NA NA NA 7q34 NA Name=GATA-1 NA NA rs361443 0.71 0.71 0.657 0.683506 0.6968 0.7837 0.5692 0.7231 0.5941 0.7 0.81 0.59 0.69 0.5788 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382532 NA NA NA NA NA 0.63 NA 3.3910667 1313 12 45173571 45173571 C A intronic NELL2 NA NA NA intronic ENSG00000184613 NA NA NA NA NA 12q12 NA NA NA NA rs1123078 0.24 0.24 0.231 0.251797 0.171 0.2599 0.2709 0.2693 0.2894 0.18 0.25 0.27 0.3 0.2431 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.65934 NA NA 0.195 0.268724 NA 0.333 NA 3.3909 1313 19 57752326 57752326 C G intronic ZNF805 NA NA NA intronic ENSG00000204524 NA NA NA NA NA 19q13.43 NA Name=CHD2_(N-1250) NA NA rs8111661 0.41 0.41 0.381 0.40595 0.5795 0.1677 0.4568 0.3812 0.4703 0.57 0.19 0.49 0.36 0.5077 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761153 NA NA 0.521999 0.361272 NA 0.341 NA 3.390801 1313 1 166958937 166958937 G T intronic MAEL NA NA NA intronic ENSG00000143194 NA NA NA NA NA 1q24.1 NA NA NA NA rs41269702 0.23 0.23 0.262 0.233626 0.1889 0.247 0.1268 0.3548 0.1779 0.18 0.27 0.12 0.35 0.2215 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.710483 NA NA 0.198837 0.34348 NA 0.29 NA 3.390763 1313 4 9735217 9735217 C T intergenic MIR548I2,DRD5 dist=177280;dist=48041 NA NA ncRNA_intronic ENSG00000249563 NA NA NA NA NA 4p16.1 NA NA NA NA rs10939482 0.46 0.46 0.448 0.433906 0.6093 0.3224 0.5375 0.3449 0.4151 0.6 0.34 0.56 0.3 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.28953 NA NA NA NA NA 0.275 NA 3.3907 1313 6 158504365 158504365 G A intronic SYNJ2 NA NA NA intronic ENSG00000078269 NA NA NA NA NA 6q25.3 NA NA NA NA rs1744175 0.63 0.63 0.674 0.648163 0.6093 0.5794 0.4164 0.8699 0.6237 0.63 0.55 0.47 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225062 NA NA NA NA NA 0.696 NA 3.3907 1313 10 98379928 98379928 T C intronic PIK3AP1 NA NA NA intronic ENSG00000155629 NA NA NA NA NA 10q24.1 NA NA NA NA rs3748235 0.62 0.62 0.609 0.605032 0.6093 0.8294 0.5216 0.4039 0.7004 0.62 0.86 0.56 0.4 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298472 NA NA NA NA NA 0.601 NA 3.3907 1313 11 74842530 74842530 T C intergenic OR2AT4,SLCO2B1 dist=41772;dist=19502 NA NA ncRNA_exonic ENSG00000254475 NA NA NA NA NA 11q13.4 NA NA NA NA rs2712793 0.37 0.37 0.343 0.357827 0.6093 0.2669 0.4424 0.0696 0.5225 0.61 0.22 0.45 0.09 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94353 NA NA NA NA NA 0.42 NA 3.3907 1313 21 47546244 47546244 T C intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs13050660 0.57 0.57 0.547 0.551917 0.6093 0.4613 0.7017 0.5537 0.4775 0.62 0.44 0.67 0.58 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090459 NA NA NA NA NA 0.355 NA 3.3907 1313 1 43907092 43907092 G A intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA NA NA rs12407785 0.2 0.2 0.168 0.209665 0.1889 0.3859 0.2118 0.0166 0.3088 0.19 0.36 0.24 0.02 0.2204 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434785 NA NA 0.200233 0.045393 NA 0.087 NA 3.390467 1313 7 142162306 142162306 A G intergenic LOC730441,MTRNR2L6 dist=190238;dist=211825 NA NA intronic ENSG00000211724 NA NA NA NA NA 7q34 NA Name=GATA-1 NA NA rs361442 0.7 0.7 0.629 0.672125 0.6978 0.7728 0.572 0.711 0.5603 0.7 0.78 0.59 0.69 0.5785 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214773 NA NA NA NA NA 0.63 NA 3.3903667 1313 8 101203737 101203737 T C intronic SPAG1 NA NA NA intronic ENSG00000104450 NA NA NA NA NA 8q22.2 NA NA NA NA rs3802149 0.15 0.15 0.12 0.150559 0.2117 0.0734 0.2392 0.0537 0.2352 0.21 0.07 0.25 0.07 0.1979 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247762 NA NA 0.200116 0.075806 NA 0.13 NA 3.390284 1313 2 29226498 29226498 G A exonic FAM179A NA synonymous SNV FAM179A:NM_199280:exon6:c.G780A:p.P260P exonic ENSG00000189350 NA synonymous SNV ENSG00000189350:ENST00000379558:exon6:c.G780A:p.P260P,ENSG00000189350:ENST00000403861:exon6:c.G780A:p.P260P NA NA 2p23.2 NA NA NA NA rs12613325 0.62 0.62 0.597 0.593251 0.7584 0.6677 0.7089 0.3056 0.6534 0.74 0.65 0.71 0.32 0.7232 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.128505 NA NA 0.795098 0.382844 NA 0.594 NA 3.3899686 1313 12 53004654 53004654 C G intronic KRT73 NA NA NA ncRNA_exonic ENSG00000257495 NA NA NA NA NA 12q13.13 NA NA NA NA rs595624 0.24 0.24 0.201 0.257788 0.3181 0.1954 0.1902 0.2005 0.3855 0.34 0.2 0.2 0.18 0.3076 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.837333 1.837333 NA 0.317907 0.220154 NA 0.217 NA 3.3897263 1313 2 50280338 50280338 G A intronic NRXN1 NA NA NA intronic ENSG00000179915 NA NA NA NA NA 2p16.3 NA NA NA NA rs1363049 0.6 0.6 0.584 0.58726 0.6103 0.6419 0.6427 0.5189 0.5603 0.61 0.64 0.65 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292624 NA NA NA NA NA 0.616 NA 3.3897 1313 4 3443931 3443931 A G intronic HGFAC NA NA NA intronic ENSG00000109758 NA NA NA NA NA 4p16.3 NA NA NA NA rs13108218 0.55 0.55 0.515 0.551518 0.6103 0.4881 0.5749 0.4962 0.6145 0.61 0.53 0.57 0.45 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229707 NA NA NA NA NA 0.486 NA 3.3897 1313 5 145377578 145377578 C T intronic SH3RF2 NA NA NA intronic ENSG00000156463 NA NA NA NA NA 5q32 NA NA NA NA rs17426578 0.61 0.61 0.589 0.613219 0.6103 0.7212 0.5591 0.4372 0.7812 0.63 0.71 0.59 0.48 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160838 NA NA NA NA NA 0.493 NA 3.3897 1313 6 32610282 32610282 T G intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA NA NA NA rs9272778 NA NA NA 0.631989 0.6103 0.7212 0.7205 0.5272 0.6411 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.907742 NA NA NA NA NA NA NA 3.3897 1313 9 93505417 93505417 T C intergenic DIRAS2,SYK dist=100309;dist=58595 NA NA ncRNA_exonic ENSG00000236316 NA NA NA NA NA 9q22.2 NA NA NA NA rs1148850 0.61 0.61 0.558 0.647364 0.6103 0.5794 0.5173 0.8245 0.6084 0.59 0.54 0.53 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017959 NA NA NA NA NA 0.246 NA 3.3897 1313 9 132845986 132845986 T C intronic GPR107 NA NA NA intronic ENSG00000148358 NA NA NA NA NA 9q34.11 NA NA NA NA rs10819597 0.63 0.63 0.595 0.639976 0.6103 0.8006 0.6196 0.5295 0.6687 0.62 0.78 0.65 0.48 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512513 NA NA NA NA NA 0.609 NA 3.3897 1313 10 134664875 134664875 A G intronic TTC40 NA NA NA intronic ENSG00000171811 NA NA NA NA NA 10q26.3 NA NA NA NA rs7913626 0.62 0.62 0.622 0.667732 0.6103 0.4157 0.7262 0.8737 0.6667 0.59 0.43 0.71 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285793 NA NA NA NA NA 0.725 NA 3.3897 1313 20 258191 258191 C G intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA NA NA rs6132242 0.69 0.69 0.72 0.675319 0.6103 0.6974 0.4986 0.8979 0.544 0.63 0.7 0.5 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057799 NA NA NA NA NA 0.652 NA 3.3897 1313 17 42337976 42337976 G A intronic SLC4A1 NA NA NA intronic ENSG00000004939,ENSG00000268413 NA NA NA NA NA 17q21.31 NA NA NA NA rs2074107 0.19 0.19 0.185 0.192692 0.2147 0.0833 0.1398 0.3313 0.1329 0.21 0.08 0.15 0.32 0.1928 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308534 NA NA 0.203488 0.316387 NA 0.21 NA 3.389012 1313 6 19613088 19613088 A G intergenic MIR548A1,ID4 dist=1040977;dist=224513 NA NA ncRNA_exonic ENSG00000214012 NA NA NA NA NA 6p22.3 NA NA NA NA rs1936906 0.54 0.54 0.468 0.548323 0.6113 0.3571 0.5375 0.7156 0.4622 0.59 0.32 0.56 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025858 NA NA NA NA NA 0.71 NA 3.3887 1313 19 7622226 7622226 G A intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs1645800 0.52 0.52 0.483 0.533347 0.6113 0.3482 0.6354 0.5113 0.6012 0.6 0.34 0.65 0.52 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10764 NA NA NA NA NA 0.536 NA 3.3887 1313 11 78440736 78440736 G C intronic TENM4 NA NA NA intronic ENSG00000149256 NA NA NA NA NA 11q14.1 NA NA NA NA rs512004 0.25 0.25 0.249 0.244409 0.1968 0.1538 0.2637 0.4206 0.135 0.18 0.14 0.28 0.47 0.2175 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.829001 NA NA 0.197305 0.357679 NA 0.304 NA 3.388395 1313 3 13860957 13860957 A G intronic WNT7A NA NA NA intronic ENSG00000154764 NA NA NA NA NA 3p25.1 NA NA NA NA rs79020924 0.15 0.15 0.136 0.126597 0.2207 0.0754 0.2205 0.0378 0.136 0.23 0.09 0.23 0.03 0.1829 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.708342 NA NA 0.208023 0.061734 NA 0.094 NA 3.388377 1313 10 3160917 3160917 T C intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA Name=Pol2 NA NA rs3829913 0.8 0.8 0.809 0.802316 0.8072 0.874 0.7997 0.7027 0.8599 0.81 0.88 0.79 0.71 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150209 NA NA 0.804525 0.748555 NA 0.638 NA 3.388275 1313 14 106866748 106866748 A T intergenic LINC00226,LINC00221 dist=121782;dist=71707 NA NA intronic ENSG00000211958 NA NA NA NA NA 14q32.33 NA NA NA NA rs73379084 NA NA 0.218 0.0351438 0.002 0.001 0.013 0.1233 0.001 NA NA NA NA 0.1758 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996239 NA NA 0.10067 0.353594 NA 0.051 NA 3.3881967 1313 6 28474218 28474218 C G intronic GPX6 NA NA NA intronic ENSG00000198704 NA NA NA NA NA 6p22.1 NA NA NA NA rs974334 0.35 0.35 0.361 0.36881 0.174 0.4931 0.2911 0.4871 0.3364 0.17 0.5 0.29 0.51 0.266 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18886 NA NA 0.172276 0.440949 ID=COSN167724;OCCURENCE=1(large_intestine) 0.37 NA 3.387724 1313 10 134647453 134647453 C T intronic TTC40 NA NA NA intronic ENSG00000171811 NA NA NA NA NA 10q26.3 NA NA NA NA rs3750583 0.62 0.62 0.599 0.657348 0.6123 0.4018 0.7219 0.8585 0.6493 0.59 0.41 0.71 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580652 NA NA NA NA NA 0.681 NA 3.3877 1313 14 21202897 21202897 C T intergenic RNASE4,EDDM3A dist=34139;dist=11202 NA NA ncRNA_exonic ENSG00000258963 NA NA NA NA NA 14q11.2 NA NA NA NA rs4394987 0.66 0.66 0.67 0.661941 0.6123 0.8512 0.4769 0.6415 0.6769 0.61 0.85 0.48 0.65 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781145 NA NA NA NA NA 0.659 NA 3.3877 1313 19 21205531 21205531 C T intronic ZNF430 NA NA NA intronic ENSG00000118620 NA NA NA NA NA 19p12 NA NA NA NA rs7252588 0.53 0.53 0.482 0.498602 0.6123 0.7202 0.7032 0.1036 0.5419 0.58 0.75 0.68 0.11 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877841 NA NA NA NA NA 0.406 NA 3.3877 1313 19 43688854 43688854 G C intronic PSG5 NA NA NA intronic ENSG00000204941 NA NA NA NA NA 19q13.31 NA NA NA NA rs7248859 0.71 0.71 0.731 0.766773 0.6123 0.9851 0.5807 0.8396 0.7342 0.57 0.95 0.52 0.77 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605896 NA NA NA NA NA 0.703 NA 3.3877 1313 11 123988331 123988331 G A intronic VWA5A NA NA NA intronic ENSG00000110002 NA NA NA NA NA 11q24.2 NA NA NA NA rs2276049 0.13 0.13 0.13 0.107029 0.2386 0.0933 0.1153 0.031 0.0828 0.23 0.1 0.12 0.03 0.1678 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279317 NA NA 0.205978 0.054748 NA 0.065 NA 3.387622 1313 1 97278804 97278804 G A intronic PTBP2 NA NA NA intronic ENSG00000117569 NA NA NA Score=701;Name=lod=939 NA 1p21.3 NA NA NA NA rs273886 0.61 0.61 0.582 0.63099 0.5358 0.6339 0.549 0.7345 0.6442 0.53 0.64 0.56 0.72 0.5499 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473695 NA NA 0.526885 0.715455 NA 0.493 NA 3.387415 1313 5 38352476 38352476 C T intronic EGFLAM NA NA NA intronic ENSG00000164318 NA NA NA NA NA 5p13.2 NA NA NA NA rs2589812 0.24 0.24 0.212 0.235823 0.2237 0.2292 0.1455 0.3177 0.2086 0.22 0.22 0.19 0.31 0.194 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53767 NA NA 0.195349 0.28847 NA 0.21 NA 3.386951 1313 22 30405151 30405151 T C intronic MTMR3 NA NA NA ncRNA_exonic ENSG00000227117 NA NA NA NA NA 22q12.2 NA NA Name=9 NA rs41157 0.67 0.67 0.645 0.753794 0.6143 0.5437 0.7853 0.9017 0.8916 0.61 0.52 0.76 0.87 0.7041 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36038 NA NA 0.62814 0.862914 NA 0.717 NA 3.3867933 1313 20 19560664 19560664 G A exonic SLC24A3 NA synonymous SNV SLC24A3:NM_020689:exon4:c.G369A:p.A123A exonic ENSG00000185052 NA synonymous SNV ENSG00000185052:ENST00000328041:exon4:c.G369A:p.A123A NA NA 20p11.23 NA NA NA NA rs3790261 0.67 0.67 0.639 0.652756 0.7922 0.6567 0.7118 0.4508 0.7362 0.79 0.64 0.7 0.49 0.7292 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218882 NA NA 0.758488 0.522696 NA 0.725 NA 3.3867786 1313 12 52632573 52632573 A G intronic KRT7 NA NA NA intronic ENSG00000135480 NA NA NA NA NA 12q13.13 NA Name=Pol2 NA NA rs7300317 0.46 0.46 0.47 0.480831 0.5427 0.3145 0.4582 0.5734 0.4796 0.54 0.29 0.45 0.55 0.5136 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312067 NA NA 0.556977 0.581707 ID=COSN164252;OCCURENCE=1(breast) 0.507 NA 3.386723 1313 5 29882044 29882044 G A intergenic LSP1P3,CDH6 dist=954624;dist=1311718 NA NA ncRNA_exonic ENSG00000233787 NA NA NA NA NA 5p13.3 NA NA NA NA rs2115185 0.37 0.37 0.346 0.34385 0.6133 0.2302 0.3285 0.1974 0.3926 0.62 0.18 0.38 0.17 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760975 NA NA NA NA NA 0.283 NA 3.3867 1313 10 49873845 49873845 C T intergenic ARHGAP22,WDFY4 dist=13284;dist=19673 NA NA ncRNA_intronic ENSG00000236800 NA NA NA NA NA 10q11.22 NA NA NA NA rs2377618 0.56 0.56 0.522 0.555911 0.6133 0.5933 0.634 0.4289 0.5746 0.61 0.57 0.62 0.43 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780685 NA NA NA NA NA 0.543 NA 3.3867 1313 12 3321109 3321109 A G intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA NA NA rs17779041 0.51 0.51 0.444 0.5002 0.6133 0.4524 0.6585 0.3472 0.5276 0.61 0.45 0.67 0.32 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287325 NA NA NA NA NA 0.565 NA 3.3867 1313 9 2101545 2101545 T A intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA NA NA rs10738570 0.31 0.31 0.321 0.31869 0.1769 0.3849 0.2248 0.531 0.1759 0.18 0.38 0.21 0.51 0.2461 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363162 NA NA 0.190432 0.446217 ID=COSN168459;OCCURENCE=1(oesophagus),1(large_intestine) 0.312 NA 3.386568 1313 13 42144853 42144853 A G intronic VWA8 NA NA NA intronic ENSG00000102763 NA NA NA NA NA 13q14.11 NA NA NA NA rs9562321 0.34 0.34 0.347 0.375799 0.1799 0.379 0.3458 0.5787 0.3211 0.19 0.35 0.29 0.59 0.2574 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.436695 2.436695 NA 0.176256 0.499215 NA 0.362 NA 3.386444 1313 22 44112845 44112845 C T exonic EFCAB6 NA synonymous SNV EFCAB6:NM_198856:exon7:c.G309A:p.S103S,EFCAB6:NM_022785:exon9:c.G765A:p.S255S exonic ENSG00000186976 NA synonymous SNV ENSG00000186976:ENST00000358439:exon7:c.G447A:p.S149S,ENSG00000186976:ENST00000396231:exon7:c.G309A:p.S103S,ENSG00000186976:ENST00000356087:exon8:c.G447A:p.S149S,ENSG00000186976:ENST00000262726:exon9:c.G765A:p.S255S NA NA 22q13.2 NA NA NA NA rs5764234 0.79 0.79 0.802 0.798522 0.7366 0.8581 0.7853 0.823 0.7771 0.74 0.86 0.77 0.81 0.7804 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183389 NA NA 0.763488 0.80881 NA 0.696 NA 3.3861786 1313 19 11409684 11409684 A G intronic TSPAN16 NA NA NA intronic ENSG00000130167 NA NA NA NA NA 19p13.2 NA NA NA NA rs422496 0.44 0.44 0.452 0.466054 0.3012 0.2877 0.3847 0.8654 0.3374 0.3 0.27 0.4 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845386 NA NA 0.312696 0.807803 NA 0.58 NA 3.386104 1313 3 367757 367757 G C intronic CHL1 NA NA NA intronic ENSG00000134121 NA NA NA NA NA 3p26.3 NA NA NA NA rs162734 0.29 0.29 0.332 0.331669 0.1869 0.0179 0.1974 0.8449 0.2055 0.18 0.02 0.21 0.82 0.2267 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.524885 NA NA 0.200349 0.75386 NA 0.326 NA 3.386051 1313 19 39338125 39338125 G A intronic HNRNPL NA NA NA intronic ENSG00000104824 NA NA NA NA NA 19q13.2 NA Name=Pol2 NA NA rs862454 0.39 0.39 0.37 0.354233 0.5924 0.2421 0.4193 0.1604 0.4407 0.6 0.29 0.43 0.15 0.4696 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215655 NA NA 0.551977 0.210849 NA 0.42 NA 3.386023 1313 6 90323624 90323624 T C intronic ANKRD6 NA NA NA intronic ENSG00000083099,ENSG00000135299 NA NA NA NA NA 6q15 NA NA NA NA rs1179906 0.18 0.18 0.173 0.234425 0.2058 0.0923 0.1499 0.3154 0.3609 0.19 0.07 0.14 0.31 0.2128 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.534212 1.534212 NA 0.195449 0.297364 NA 0.254 NA 3.385951 1313 5 145376757 145376757 C T intronic SH3RF2 NA NA NA intronic ENSG00000156463 NA NA NA NA NA 5q32 NA NA NA NA rs12652801 0.73 0.73 0.756 0.765974 0.6143 0.7212 0.6023 0.9902 0.7812 0.62 0.71 0.62 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541301 NA NA NA NA NA 0.645 NA 3.3857 1313 7 6088339 6088339 T C intronic EIF2AK1 NA NA NA intronic ENSG00000086232 NA NA NA NA NA 7p22.1 NA NA NA NA rs523254 0.61 0.61 0.637 0.588658 0.6143 0.4712 0.5908 0.7315 0.4888 0.61 0.5 0.6 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018364 NA NA NA NA NA 0.594 NA 3.3857 1313 9 107531361 107531361 T C intronic NIPSNAP3B NA NA NA intronic ENSG00000165028 NA NA NA NA NA 9q31.1 NA NA NA NA rs2472478 0.65 0.65 0.658 0.633187 0.6143 0.5238 0.7435 0.7398 0.5429 0.61 0.56 0.72 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682137 NA NA NA NA NA 0.63 NA 3.3857 1313 9 137808427 137808427 T A intronic FCN1 NA NA NA intronic ENSG00000085265 NA NA NA NA NA 9q34.3 NA NA NA NA rs2382714 0.48 0.48 0.49 0.463259 0.6143 0.4256 0.4107 0.3275 0.5675 0.63 0.45 0.39 0.35 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108618 NA NA NA NA NA 0.493 NA 3.3857 1313 1 97189091 97189091 G A intronic PTBP2 NA NA NA intronic ENSG00000117569 NA NA NA NA NA 1p21.3 NA NA Name=13 NA rs3762411 0.61 0.61 0.579 0.631789 0.5368 0.6339 0.549 0.7352 0.6462 0.53 0.64 0.56 0.72 0.5503 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117241 NA NA 0.527326 0.719473 NA 0.493 NA 3.385574 1313 9 139407452 139407452 C T intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA Name=31 NA rs3812608 0.7 0.7 0.679 0.697284 0.5089 0.8671 0.6066 0.8744 0.5409 0.51 0.84 0.63 0.88 0.6279 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614069 NA NA 0.477652 0.809037 NA 0.261 NA 3.385548 1313 7 129929673 129929673 C T downstream CPA2 NA NA NA downstream ENSG00000158516 NA NA NA NA NA 7q32.2 NA NA NA NA rs73146781 0.14 0.14 0.125 0.095647 0.2813 0.0079 0.1758 0.0098 0.0542 0.29 0.01 0.18 0.02 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201696 NA NA NA NA NA 0.167 NA 3.3853666 1313 19 1986455 1986455 A G UTR3 BTBD2 NM_017797:c.*32T>C NA NA UTR3 ENSG00000133243 ENST00000255608:c.*32T>C NA NA NA NA 19p13.3 NA NA NA NA rs7254820 0.4 0.4 0.396 0.424321 0.2982 0.5933 0.353 0.4516 0.3937 0.29 0.55 0.34 0.44 0.3513 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377246 NA NA 0.298488 0.412392 NA 0.464 NA 3.3853454 1313 4 39474868 39474868 G A intronic LIAS NA NA NA intronic ENSG00000121897 NA NA NA NA NA 4p14 NA NA NA NA rs749915 0.21 0.21 0.243 0.210264 0.2038 0.0724 0.183 0.416 0.1002 0.2 0.07 0.16 0.43 0.1983 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357041 NA NA 0.212558 0.381071 NA 0.283 NA 3.385342 1313 22 23101301 23101301 A G intergenic GGTLC2,MIR650 dist=110933;dist=63969 NA NA intronic ENSG00000211666 NA NA NA NA NA 22q11.22 NA Name=Pol2 NA NA rs4822305 0.71 0.71 0.669 0.711462 0.6302 0.8621 0.7478 0.6619 0.681 0.62 0.87 0.71 0.65 0.6513 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154998 NA NA NA NA NA 0.5 NA 3.3851667 1313 19 10104154 10104154 G T intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2277964 0.14 0.14 0.117 0.124002 0.2068 0.124 0.1499 0.0204 0.1605 0.21 0.15 0.17 0.03 0.1848 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963259 NA NA 0.223372 0.046754 NA 0.109 NA 3.385028 1314 12 103988311 103988311 T C intronic STAB2 NA NA NA intronic ENSG00000136011 NA NA NA NA NA 12q23.3 NA NA NA NA rs703597 0.12 0.12 0.102 0.0978435 0.2266 0.005 0.1888 0.0136 0.1104 0.25 0.0035 0.2 0.02 0.1787 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826188 NA NA 0.21 0.041761 NA 0.08 NA 3.3847 1314 17 73124692 73124692 C T intronic ARMC7 NA NA NA intronic ENSG00000125449 NA NA NA NA NA 17q25.1 NA NA NA NA rs2291028 0.4 0.4 0.356 0.381789 0.6153 0.2798 0.4539 0.0696 0.6176 0.64 0.29 0.49 0.1 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190135 NA NA NA NA NA 0.507 NA 3.3847 1314 18 21437721 21437721 A G intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs867448 0.39 0.39 0.371 0.344449 0.6153 0.1736 0.4135 0.202 0.3855 0.62 0.17 0.47 0.22 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44572 NA NA NA NA NA 0.413 NA 3.3847 1314 19 50358183 50358183 C A intronic PTOV1 NA NA NA ncRNA_intronic ENSG00000268047 NA NA NA NA NA 19q13.33 NA NA NA NA rs2278836 0.25 0.25 0.274 0.263379 0.2942 0.2163 0.2133 0.2436 0.3425 0.3 0.2 0.24 0.23 0.3414 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170191 NA NA 0.313141 0.246466 NA 0.203 NA 3.3845923 1314 8 105263248 105263248 C T intronic RIMS2 NA NA NA intronic ENSG00000176406 NA NA NA NA NA 8q22.3 NA NA NA NA rs1374519 0.11 0.11 0.087 0.0864617 0.2227 0.002 0.1254 0.0182 0.0982 0.22 NA 0.16 0.02 0.1657 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.179554 2.179554 NA 0.227052 0.052492 NA 0.072 NA 3.384548 1314 18 33828980 33828980 C G intronic MOCOS NA NA NA intronic ENSG00000075643 NA NA NA NA NA 18q12.2 NA Name=SETDB1 NA NA rs567458 0.54 0.54 0.537 0.522165 0.5477 0.3125 0.5807 0.7557 0.3548 0.55 0.33 0.63 0.71 0.5272 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19258 NA NA 0.540814 0.715388 NA 0.536 NA 3.384286 1314 12 25343516 25343516 C T intronic CASC1 NA NA NA intronic ENSG00000118307 NA NA NA NA NA 12p12.1 Score=894;Name=V$FOXJ2_01 NA NA NA rs10842501 0.55 0.55 0.528 0.552316 0.5229 0.8135 0.5115 0.2958 0.6892 0.54 0.77 0.54 0.33 0.5611 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062413 NA NA 0.531867 0.340678 NA 0.514 NA 3.384133 1314 9 101908915 101908915 G A intronic TGFBR1 NA NA NA intronic ENSG00000106799 NA NA NA NA NA 9q22.33 NA NA NA NA rs334354 0.29 0.29 0.288 0.269968 0.1938 0.4296 0.245 0.2436 0.2372 0.21 0.41 0.27 0.28 0.2194 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178589 NA NA 0.202791 0.246936 NA 0.261 NA 3.384009 1314 2 48166824 48166824 C A intergenic FBXO11,FOXN2 dist=33892;dist=374971 NA NA downstream ENSG00000226473 NA NA NA NA NA 2p16.3 NA NA NA NA rs76063782 0.05 0.05 0.044 0.0313498 0.1163 NA 0.0432 0.0038 0.0051 0.12 NA 0.06 0.0041 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660847 NA NA NA NA NA 0.029 NA 3.3837 1314 2 98018281 98018281 G A intergenic LOC100506123,LOC100506123 dist=60649;dist=63395 NA NA downstream ENSG00000271569 NA NA NA NA NA 2q11.2 NA NA NA NA rs10207116 0.18 0.18 0.203 0.173522 0.1163 0.0734 0.1095 0.4206 0.047 0.11 0.08 0.12 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879487 NA NA NA NA NA 0.188 NA 3.3837 1314 5 108925342 108925342 A G intergenic PJA2,MAN2A1 dist=179667;dist=99814 NA NA downstream ENSG00000214794 NA NA NA NA NA 5q21.3 NA NA NA NA rs10057191 0.09 0.09 0.082 0.0736821 0.1163 0.1042 0.1254 0.0136 0.0429 0.11 0.11 0.13 0.02 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390118 NA NA NA NA NA 0.065 NA 3.3837 1314 15 25925195 25925195 T C intronic ATP10A NA NA NA intronic ENSG00000206190 NA NA NA NA NA 15q12 NA NA NA NA rs3736186 0.68 0.68 0.669 0.679712 0.6163 0.6349 0.7118 0.7867 0.6237 0.62 0.65 0.71 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377497 NA NA NA NA NA 0.696 NA 3.3837 1314 7 107824889 107824889 C G exonic NRCAM NA synonymous SNV NRCAM:NM_001037132:exon18:c.G2205C:p.A735A,NRCAM:NM_005010:exon19:c.G2157C:p.A719A,NRCAM:NM_001193583:exon20:c.G2148C:p.A716A,NRCAM:NM_001193584:exon20:c.G2148C:p.A716A,NRCAM:NM_001193582:exon21:c.G2205C:p.A735A exonic ENSG00000091129 NA synonymous SNV ENSG00000091129:ENST00000425651:exon18:c.G2205C:p.A735A,ENSG00000091129:ENST00000351718:exon19:c.G2157C:p.A719A,ENSG00000091129:ENST00000379024:exon20:c.G2148C:p.A716A,ENSG00000091129:ENST00000379028:exon21:c.G2205C:p.A735A,ENSG00000091129:ENST00000413765:exon21:c.G2148C:p.A716A,ENSG00000091129:ENST00000379022:exon22:c.G2205C:p.A735A NA NA 7q31.1 NA NA NA NA rs401433 0.72 0.72 0.692 0.689097 0.7644 0.9554 0.7983 0.348 0.7209 0.77 0.94 0.77 0.35 0.7488 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12484 NA NA 0.769767 0.441443 NA 0.667 NA 3.3836996 1314 7 66660360 66660360 C T intronic TYW1 NA NA NA intronic ENSG00000198874 NA NA NA NA NA 7q11.21 NA NA NA NA rs34574768 0.23 0.23 0.2 0.276957 0.2366 0.0744 0.232 0.4622 0.3088 0.21 0.09 0.24 0.45 0.2281 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887508 NA NA 0.151628 0.279619 NA 0.145 NA 3.383672 1314 5 843702 843702 G A intronic ZDHHC11 NA NA NA intronic ENSG00000188818 NA NA NA NA NA 5p15.33 NA NA NA NA rs3863147 0.27 0.27 0.196 0.319888 0.3121 0.3075 0.2651 0.4682 0.1789 0.23 0.21 0.21 0.45 0.3043 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082089 NA NA NA NA NA NA NA 3.3836 1314 9 119094789 119094789 A C intronic PAPPA NA NA NA intronic ENSG00000182752 NA NA NA NA NA 9q33.1 NA NA NA NA rs56276527 0.12 0.12 0.119 0.0880591 0.2336 NA 0.0893 0.0877 0.0286 0.23 NA 0.11 0.09 0.1573 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303376 NA NA 0.225581 0.091466 NA 0.145 NA 3.383519 1314 1 43011030 43011030 A G intronic CCDC30 NA NA NA intronic ENSG00000186409 NA NA NA NA NA 1p34.2 NA NA NA NA rs11210668 0.25 0.25 0.238 0.300919 0.1869 0.4554 0.1628 0.2337 0.4479 0.19 0.4 0.17 0.23 0.2325 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.086426 NA NA 0.197375 0.219693 NA 0.225 NA 3.383225 1314 3 125734308 125734308 G A intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs2279821 0.16 0.16 0.15 0.172125 0.2207 0.1458 0.1326 0.1233 0.2434 0.22 0.12 0.16 0.12 0.1816 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255895 NA NA 0.214535 0.123241 NA 0.152 NA 3.383165 1314 22 24583879 24583879 T C intronic SUSD2 NA NA NA intronic ENSG00000099994 NA NA NA NA NA 22q11.23 NA NA NA NA rs2070470 0.32 0.32 0.33 0.312101 0.2167 0.3988 0.2003 0.4123 0.2648 0.2 0.45 0.17 0.45 0.222 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025003 NA NA 0.178256 0.402816 NA 0.442 NA 3.383044 1314 4 5642161 5642161 A G intronic EVC2 NA NA NA intronic ENSG00000173040 NA NA NA NA NA 4p16.2 NA NA NA NA rs751841 0.58 0.58 0.597 0.577676 0.6173 0.4782 0.5605 0.6316 0.5787 0.63 0.54 0.54 0.58 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186347 NA NA NA NA NA 0.645 NA 3.3827 1314 12 52884283 52884283 A G intronic KRT6A NA NA NA intronic ENSG00000205420 NA NA NA NA NA 12q13.13 NA NA NA NA rs298119 0.64 0.64 0.604 0.599241 0.6173 0.6875 0.6873 0.5772 0.4571 0.58 0.75 0.67 0.57 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980479 NA NA NA NA NA 0.413 NA 3.3827 1314 16 68721340 68721340 G A intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs2296406 0.62 0.62 0.617 0.597244 0.6173 0.5536 0.5476 0.6657 0.5644 0.62 0.58 0.57 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.393795 NA NA NA NA NA 0.703 NA 3.3827 1314 18 47406913 47406913 A G intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs1217632 0.6 0.6 0.596 0.593251 0.6173 0.5308 0.6686 0.5915 0.5818 0.61 0.56 0.66 0.58 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484327 NA NA NA NA NA 0.601 NA 3.3827 1314 19 13356150 13356150 T G intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA NA NA NA rs16035 0.66 0.66 0.618 0.643171 0.6173 0.8373 0.6888 0.5038 0.6258 0.61 0.82 0.68 0.52 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637228 NA NA NA NA NA 0.667 NA 3.3827 1314 15 52534344 52534344 G A exonic MYO5C NA synonymous SNV MYO5C:NM_018728:exon20:c.C2457T:p.R819R exonic ENSG00000128833 NA synonymous SNV ENSG00000128833:ENST00000261839:exon20:c.C2457T:p.R819R NA NA 15q21.2 NA NA NA NA rs3751631 0.44 0.44 0.394 0.382987 0.8171 0.0417 0.6167 0.1415 0.4489 0.81 0.03 0.68 0.15 0.6533 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.291535 NA NA 0.813578 0.281891 ID=COSM1373488;OCCURENCE=1(large_intestine) 0.486 NA 3.3826886 1314 19 17760232 17760232 C T intronic UNC13A NA NA NA intronic ENSG00000130477 NA NA NA NA NA 19p13.11 NA NA NA NA rs11665838 0.21 0.21 0.188 0.212061 0.3141 0.1587 0.1988 0.0817 0.3476 0.31 0.15 0.25 0.11 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83901 NA NA 0.303268 0.120665 NA 0.188 NA 3.382632 1314 3 125701099 125701099 T C intronic ROPN1B NA NA NA intronic ENSG00000114547 NA NA NA NA NA 3q21.2 NA NA NA NA rs2270986 0.16 0.16 0.153 0.173123 0.2197 0.1458 0.1326 0.1286 0.2423 0.22 0.13 0.16 0.12 0.182 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789276 NA NA 0.215698 0.126872 NA 0.152 NA 3.382602 1314 12 111894072 111894072 C T intronic ATXN2 NA NA NA intronic ENSG00000204842 NA NA NA NA NA 12q24.12 NA NA NA NA rs2073950 0.23 0.23 0.221 0.23143 0.1998 0.3661 0.1513 0.1861 0.2434 0.2 0.38 0.16 0.17 0.2157 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841313 NA NA 0.202093 0.195869 NA 0.254 NA 3.382407 1314 6 150210994 150210994 T C ncRNA_intronic LOC100652739 NA NA NA ncRNA_intronic ENSG00000223701,ENSG00000268592 NA NA NA NA NA 6q25.1 NA NA NA NA rs6939761 0.55 0.55 0.516 0.546326 0.4195 0.8859 0.5058 0.4554 0.4785 0.41 0.87 0.51 0.43 0.463 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272399 NA NA 0.40186 0.457331 NA 0.587 NA 3.3823066 1314 6 150210999 150210999 G C ncRNA_intronic LOC100652739 NA NA NA ncRNA_intronic ENSG00000223701,ENSG00000268592 NA NA NA NA NA 6q25.1 NA NA NA NA rs3823021 0.55 0.55 0.527 0.546326 0.4195 0.8859 0.5058 0.4554 0.4785 0.41 0.87 0.51 0.43 0.4636 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058604 NA NA 0.401512 0.456877 NA 0.587 NA 3.3820546 1314 1 207679229 207679229 T G intronic CR1 NA NA NA intronic ENSG00000203710 NA NA NA NA NA 1q32.2 NA NA NA NA rs4844599 0.2 0.2 0.185 0.271565 0.1839 0.3036 0.2709 0.1467 0.498 0.18 0.22 0.29 0.16 0.2469 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.647832 NA NA 0.187286 0.158275 NA 0.21 NA 3.381914 1314 20 48301146 48301146 G A intronic B4GALT5 NA NA NA intronic ENSG00000158470 NA NA NA NA NA 20q13.13 NA NA Name=19 NA rs6512586 0.43 0.43 0.434 0.468051 0.5527 0.3938 0.4481 0.3457 0.637 0.54 0.36 0.49 0.3 0.5201 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729729 NA NA 0.545455 0.39726 NA 0.609 NA 3.381745 1314 14 23312875 23312875 G C intronic MMP14 NA NA NA intronic ENSG00000157227 NA NA NA NA NA 14q11.2 NA NA NA NA rs2236306 0.27 0.27 0.271 0.272764 0.2028 0.3552 0.1671 0.3321 0.2546 0.19 0.37 0.18 0.37 0.2235 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.897773 NA NA 0.191977 0.295733 NA 0.254 NA 3.381723 1314 3 126227185 126227185 G A intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA NA NA NA rs16837531 0.54 0.54 0.518 0.558307 0.6183 0.6845 0.5937 0.2186 0.8006 0.62 0.69 0.57 0.23 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064776 NA NA NA NA NA 0.449 NA 3.3817 1314 9 137806344 137806344 C T intronic FCN1 NA NA NA intronic ENSG00000085265 NA NA NA NA NA 9q34.3 NA NA NA NA rs3012788 0.58 0.58 0.572 0.607228 0.6183 0.4653 0.4467 0.7005 0.7301 0.63 0.48 0.44 0.7 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190237 NA NA NA NA NA 0.645 NA 3.3817 1314 19 10084422 10084422 C T intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2287812 0.17 0.17 0.174 0.134385 0.2068 0.2202 0.1225 0.0287 0.1227 0.21 0.25 0.14 0.05 0.1867 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149115 NA NA 0.225233 0.055631 NA 0.138 NA 3.381267 1314 12 56213297 56213297 G T intronic ORMDL2 NA NA NA intronic ENSG00000123353,ENSG00000257390 NA NA NA NA NA 12q13.2 NA NA NA NA rs56108400 0.16 0.16 0.164 0.180312 0.1938 0.2738 0.1182 0.0113 0.3425 0.2 0.27 0.12 0.02 0.2095 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.688052 3.688052 NA 0.215465 0.048343 NA 0.159 NA 3.381235 1314 8 141568699 141568699 A G intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA Name=12 NA rs2292777 0.62 0.62 0.633 0.657748 0.5 0.6022 0.6124 0.8707 0.6217 0.51 0.6 0.59 0.85 0.5824 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596161 NA NA 0.536744 0.816614 NA 0.659 NA 3.380856 1314 5 70308251 70308251 C T exonic NAIP NA synonymous SNV NAIP:NM_004536:exon4:c.G492A:p.A164A exonic ENSG00000249437 NA synonymous SNV ENSG00000249437:ENST00000194097:exon2:c.G492A:p.A164A,ENSG00000249437:ENST00000508426:exon2:c.G492A:p.A164A,ENSG00000249437:ENST00000519014:exon2:c.G492A:p.A164A,ENSG00000249437:ENST00000517649:exon4:c.G492A:p.A164A NA NA 5q13.2 NA NA NA NA rs28409706 0.86 0.86 0.843 0.872404 0.7326 0.8958 0.8674 0.9818 0.8476 0.75 0.89 0.87 0.99 0.8021 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91945 NA NA 0.751164 0.946412 NA 0.899 NA 3.3808026 1314 1 79401927 79401927 A G intronic ELTD1 NA NA NA intronic ENSG00000162618 NA NA NA NA NA 1p31.1 NA NA NA NA rs61770681 0.63 0.63 0.62 0.620807 0.6193 0.7044 0.6844 0.4939 0.6626 0.62 0.73 0.67 0.49 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161631 NA NA NA NA NA 0.558 NA 3.3807 1314 3 53139506 53139506 C T intronic RFT1 NA NA NA intronic ENSG00000163933 NA NA NA NA NA 3p21.1 NA NA NA NA rs2564942 0.53 0.53 0.548 0.519569 0.6193 0.7411 0.5994 0.2179 0.5399 0.58 0.68 0.56 0.24 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713563 1.713563 NA NA NA NA NA NA 3.3807 1314 3 53139507 53139507 A G intronic RFT1 NA NA NA intronic ENSG00000163933 NA NA NA NA NA 3p21.1 NA NA NA NA rs2581774 0.53 0.53 0.549 0.520168 0.6193 0.7421 0.5994 0.2194 0.5399 0.58 0.68 0.56 0.24 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047945 NA NA NA NA NA NA NA 3.3807 1314 9 137806334 137806334 A G intronic FCN1 NA NA NA intronic ENSG00000085265 NA NA NA NA NA 9q34.3 NA NA NA NA rs2989721 NA NA 0.556 0.607628 0.6193 0.4653 0.4467 0.7005 0.7311 NA NA NA NA NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603212 NA NA NA NA NA 0.645 NA 3.3807 1314 19 57648433 57648433 T C intronic ZIM3 NA NA NA intronic ENSG00000141946 NA NA NA NA NA 19q13.43 NA NA NA NA rs2370135 0.74 0.74 0.715 0.746006 0.6193 0.9276 0.7061 0.7579 0.7014 0.61 0.94 0.72 0.72 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915093 NA NA NA NA NA 0.594 NA 3.3807 1314 1 169528580 169528580 C T intronic F5 NA NA NA intronic ENSG00000198734 NA NA NA NA NA 1q24.2 NA NA NA NA rs6012 0.41 0.41 0.424 0.417931 0.1819 0.6647 0.2911 0.6551 0.1759 0.17 0.64 0.29 0.62 0.2613 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150728 NA NA 0.176279 0.574444 NA 0.399 NA 3.380521 1314 10 129859992 129859992 T C intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA NA Name=5 NA rs4462251 0.53 0.53 0.491 0.535343 0.5258 0.5704 0.696 0.4206 0.5501 0.53 0.57 0.67 0.39 0.5688 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350013 NA NA 0.524884 0.437528 ID=COSN163826;OCCURENCE=1(NS) 0.543 NA 3.380516 1314 6 165715006 165715006 G A intronic C6orf118 NA NA NA intronic ENSG00000112539 NA NA NA NA NA 6q27 NA NA NA NA rs479273 0.34 0.34 0.351 0.356629 0.328 0.2024 0.3775 0.4228 0.4407 0.34 0.23 0.36 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047833 NA NA 0.291813 0.377854 NA 0.333 NA 3.380187 1314 7 12263800 12263800 G A intronic TMEM106B NA NA NA intronic ENSG00000106460 NA NA NA NA NA 7p21.3 NA NA NA NA rs11509153 0.45 0.45 0.521 0.594848 0.4056 0.6508 0.5692 0.6793 0.636 0.33 0.59 0.45 0.49 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375077 NA NA 0.214214 0.476598 NA NA NA 3.380186 1314 4 70146230 70146230 G A exonic UGT2B28 NA synonymous SNV UGT2B28:NM_001207004:exon1:c.G12A:p.K4K,UGT2B28:NM_053039:exon1:c.G12A:p.K4K exonic ENSG00000135226 NA synonymous SNV ENSG00000135226:ENST00000335568:exon1:c.G12A:p.K4K,ENSG00000135226:ENST00000511240:exon1:c.G12A:p.K4K NA NA 4q13.2 NA NA NA NA rs13139691 0.66 0.66 0.654 0.640176 0.7654 0.5952 0.67 0.5877 0.6074 0.78 0.58 0.69 0.55 0.7421 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617566 NA NA 0.779193 0.655914 ID=COSM1430686;OCCURENCE=1(large_intestine) 0.594 NA 3.3799736 1314 2 219339283 219339283 T C intronic USP37 NA NA NA intronic ENSG00000135913 NA NA NA NA NA 2q35 NA NA NA NA rs549026 0.72 0.72 0.686 0.736821 0.6203 0.9048 0.6527 0.7436 0.7342 0.63 0.9 0.67 0.69 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365734 NA NA NA NA NA 0.63 NA 3.3797 1314 11 124792173 124792173 C G intronic HEPACAM NA NA NA intronic ENSG00000165478 NA NA NA NA NA 11q24.2 NA NA NA NA rs10893304 0.74 0.74 0.762 0.744808 0.6203 0.8919 0.5994 0.8676 0.6585 0.61 0.89 0.6 0.87 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.105294 NA NA NA NA NA 0.725 NA 3.3797 1314 17 80544855 80544855 T C intronic FOXK2 NA NA NA intronic ENSG00000141568 NA NA NA NA NA 17q25.3 NA NA NA NA rs1387545 0.59 0.59 0.576 0.619609 0.6203 0.4931 0.6744 0.6687 0.6442 0.58 0.49 0.69 0.62 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049694 NA NA NA NA NA 0.623 NA 3.3797 1314 16 20448330 20448330 A G intronic ACSM5 NA NA NA intronic ENSG00000183549 NA NA NA NA NA 16p12.3 NA NA NA NA rs11646020 0.43 0.43 0.312 0.46865 0.2714 0.7569 0.2709 0.5356 0.4243 0.25 0.74 0.28 0.45 0.3498 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079982 NA NA NA NA NA 0.399 NA 3.3788 1314 5 64906617 64906617 T A intronic TRIM23 NA NA NA intronic ENSG00000113595 NA NA NA NA NA 5q12.3 NA NA NA NA rs37330 0.62 0.62 0.651 0.658746 0.6213 0.4137 0.5346 0.9221 0.682 0.64 0.41 0.56 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533434 NA NA NA NA NA 0.819 NA 3.3787 1314 14 105063253 105063253 C T intronic TMEM179 NA NA NA intronic ENSG00000258986 NA NA NA NA NA 14q32.33 NA NA NA NA rs11629201 0.41 0.41 0.378 0.394569 0.6213 0.372 0.402 0.0946 0.5849 0.61 0.39 0.45 0.07 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551427 NA NA NA NA NA 0.413 NA 3.3787 1314 16 70515600 70515600 T G intronic COG4 NA NA NA intronic ENSG00000103051 NA NA NA NA NA 16q22.1 NA NA NA NA rs6416698 0.62 0.62 0.579 0.620208 0.6213 0.5129 0.6124 0.7716 0.5307 0.62 0.5 0.65 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039548 NA NA NA NA NA 0.514 NA 3.3787 1314 18 12984340 12984340 A C intronic SEH1L NA NA NA intronic ENSG00000085415 NA NA NA NA NA 18p11.21 NA NA NA NA rs2902856 0.75 0.75 0.776 0.77476 0.6213 0.8105 0.6455 0.9493 0.7515 0.62 0.81 0.65 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368908 NA NA NA NA NA 0.703 NA 3.3787 1314 19 55142623 55142623 G T intronic LILRB1 NA NA NA intronic ENSG00000104972 NA NA NA NA NA 19q13.42 NA NA NA NA rs2296368 0.46 0.46 0.396 0.458666 0.3032 0.5982 0.4856 0.5832 0.2873 0.29 0.58 0.45 0.57 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023099 NA NA 0.318353 0.557803 NA 0.514 NA 3.378447 1314 11 129321026 129321026 C T intronic BARX2 NA NA NA intronic ENSG00000043039 NA NA NA NA NA 11q24.3 NA NA NA NA rs10791010 0.24 0.24 0.255 0.295327 0.1909 0.4008 0.1873 0.2194 0.4734 0.19 0.4 0.19 0.19 0.2395 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350082 NA NA 0.19118 0.220127 NA 0.159 NA 3.37842 1314 14 70478176 70478176 C T intronic SMOC1 NA NA NA intronic ENSG00000198732 NA NA NA NA NA 14q24.2 NA NA NA NA rs116375526 NA NA NA 0.269768 0.3141 0.4187 0.3977 0.053 0.273 NA NA NA NA 0.3076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701486 NA NA NA NA NA NA NA 3.3783 1314 11 9749554 9749554 T G intronic SWAP70 NA NA NA intronic ENSG00000133789 NA NA NA NA NA 11p15.4 NA NA NA NA rs56116109 NA NA NA 0.247604 0.3111 0.1696 0.1686 0.3124 0.2311 NA NA NA NA 0.3108 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977525 NA NA NA NA NA NA NA 3.3781 1314 12 117193323 117193323 C G intronic RNFT2 NA NA NA ncRNA_exonic ENSG00000239374 NA NA NA NA NA 12q24.22 NA NA NA NA rs3926590 0.9 0.9 0.877 0.88139 0.9553 0.9236 0.951 0.7496 0.8906 0.95 0.94 0.95 0.75 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685223 NA NA NA NA NA 0.884 NA 3.3780333 1314 19 35978567 35978567 T C intronic KRTDAP NA NA NA intronic ENSG00000188508 NA NA NA NA NA 19q13.12 NA NA NA NA rs62111717 0.13 0.13 0.096 0.125799 0.2237 0.0109 0.1124 0.1399 0.1339 0.21 0.01 0.12 0.16 0.1766 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037706 NA NA 0.221744 0.153881 NA 0.13 NA 3.377956 1314 6 41011266 41011266 C T intronic TSPO2 NA NA NA intronic ENSG00000112212,ENSG00000124596 NA NA NA NA NA 6p21.1 NA NA NA NA rs932399 0.22 0.22 0.217 0.256589 0.167 0.2688 0.2522 0.2655 0.3272 0.17 0.26 0.24 0.22 0.2423 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168773 NA NA 0.212791 0.251021 NA 0.188 NA 3.377909 1314 2 128281469 128281469 C T intronic IWS1 NA NA NA intronic ENSG00000163166 NA NA NA NA NA 2q14.3 NA NA NA NA rs2303947 0.54 0.54 0.511 0.477236 0.6223 0.5794 0.67 0.2247 0.4274 0.63 0.57 0.69 0.25 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033528 NA NA NA NA NA 0.391 NA 3.3777 1314 4 70620708 70620708 G A intronic SULT1B1 NA NA NA intronic ENSG00000173597 NA NA NA NA NA 4q13.3 NA NA NA NA rs2134668 0.63 0.63 0.622 0.63139 0.6223 0.7212 0.6527 0.5552 0.636 0.61 0.73 0.61 0.57 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.195286 NA NA NA NA NA 0.623 NA 3.3777 1314 8 130486452 130486452 T C intergenic LOC728724,GSDMC dist=232966;dist=273990 NA NA ncRNA_intronic ENSG00000229140 NA NA NA NA NA 8q24.21 NA NA NA NA rs2395901 0.61 0.61 0.604 0.655351 0.6223 0.4901 0.5403 0.7935 0.7546 0.65 0.46 0.57 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891963 NA NA NA NA NA 0.587 NA 3.3777 1314 19 367313 367313 G A intronic THEG NA NA NA intronic ENSG00000105549 NA NA NA NA NA 19p13.3 NA NA NA NA rs585487 0.55 0.55 0.57 0.519968 0.6223 0.4683 0.3588 0.6074 0.4642 0.62 0.47 0.41 0.63 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399138 NA NA NA NA NA 0.616 NA 3.3777 1314 19 49527128 49527128 C A intronic CGB NA NA NA intronic ENSG00000104827,ENSG00000267335 NA NA NA NA NA 19q13.33 NA NA NA NA rs35311610 0.53 0.53 0.428 0.523163 0.6223 0.377 0.6254 0.4962 0.5358 0.61 0.37 0.59 0.53 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011104 NA NA NA NA ID=COSN165869;OCCURENCE=1(breast) 0.022 NA 3.3777 1314 19 49527141 49527141 T G intronic CGB NA NA NA intronic ENSG00000104827,ENSG00000267335 NA NA NA NA NA 19q13.33 NA NA NA NA rs34534856 0.53 0.53 0.49 0.531749 0.6223 0.377 0.6254 0.5272 0.5378 0.6 0.37 0.58 0.54 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823047 NA NA NA NA ID=COSN165870;OCCURENCE=1(NS) 0.014 NA 3.3777 1314 3 119533733 119533733 G A intronic NR1I2 NA NA NA intronic ENSG00000144852 NA NA NA NA NA 3q13.33 NA NA NA NA rs6785049 0.44 0.44 0.394 0.401358 0.6233 0.4038 0.6182 0.0356 0.5112 0.62 0.45 0.6 0.05 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928182 NA NA NA NA NA 0.478 NA 3.3767 1314 5 78573970 78573970 T C intronic JMY NA NA NA intronic ENSG00000152409 NA NA NA NA NA 5q14.1 NA NA NA NA rs16876598 0.52 0.52 0.507 0.480631 0.6233 0.4851 0.5562 0.3654 0.4315 0.63 0.46 0.53 0.42 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23407 NA NA NA NA NA 0.543 NA 3.3767 1314 7 142161792 142161792 G A intergenic LOC730441,MTRNR2L6 dist=189724;dist=212339 NA NA downstream ENSG00000211724 NA NA NA NA NA 7q34 NA NA NA NA rs361445 0.11 0.11 0.08 0.103634 0.1233 0.1052 0.2709 0.025 0.0695 0.13 0.08 0.24 0.01 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410733 NA NA NA NA NA 0.138 NA 3.3767 1314 10 61926728 61926728 A G intronic ANK3 NA NA NA intronic ENSG00000151150 NA NA NA NA NA 10q21.2 NA NA NA NA rs11814723 0.59 0.59 0.596 0.596446 0.6233 0.5724 0.5778 0.5749 0.636 0.61 0.59 0.58 0.57 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367012 NA NA NA NA NA 0.616 NA 3.3767 1314 11 3434986 3434986 A T intergenic LOC650368,TRPC2 dist=4608;dist=212704 NA NA ncRNA_intronic ENSG00000166492 NA NA NA NA NA 11p15.4 NA NA NA NA rs11027054 0.51 0.51 0.409 0.502596 0.6233 0.7262 0.5403 0.0908 0.6779 0.62 0.65 0.53 0.15 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093833 NA NA NA NA NA 0.058 NA 3.3767 1314 11 124954282 124954282 A G intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs948270 0.64 0.64 0.662 0.666134 0.6233 0.4643 0.5173 0.9486 0.6421 0.62 0.47 0.54 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094175 NA NA NA NA NA 0.696 NA 3.3767 1314 12 124206196 124206196 T C intronic ATP6V0A2 NA NA NA intronic ENSG00000185344 NA NA NA NA NA 12q24.31 NA NA NA NA rs1878077 0.74 0.74 0.738 0.749401 0.6233 0.9474 0.7695 0.702 0.7249 0.62 0.95 0.74 0.67 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727267 NA NA NA NA NA 0.761 NA 3.3767 1314 17 25887541 25887541 C T intronic KSR1 NA NA NA intronic ENSG00000141068 NA NA NA NA NA 17q11.2 NA NA NA NA rs2948526 0.59 0.59 0.552 0.561302 0.6233 0.5982 0.696 0.4236 0.5501 0.62 0.62 0.66 0.44 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922741 NA NA NA NA NA 0.478 NA 3.3767 1314 2 89196757 89196757 G A intergenic MIR4436A,NONE dist=84789;dist=NONE NA NA UTR5 ENSG00000211599 ENST00000390244:c.-54G>A NA NA NA NA 2p11.2 NA NA NA NA rs3843805 0.33 0.33 0.305 0.332668 0.2217 0.502 0.3285 0.23 0.4141 0.22 0.58 0.3 0.21 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390642 NA NA 0.235164 0.232946 NA 0.188 NA 3.3764694 1314 1 21786251 21786251 T C intronic NBPF3 NA NA NA ncRNA_exonic ENSG00000176378 NA NA NA NA NA 1p36.12 NA NA NA NA rs4654750 0.8 0.8 0.776 0.785343 0.9573 0.8244 0.8588 0.4523 0.9663 0.95 0.8 0.89 0.49 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918294 NA NA NA NA NA 0.239 NA 3.3760333 1314 9 8319806 8319806 C T intronic PTPRD NA NA NA intronic ENSG00000153707 NA NA NA NA NA 9p24.1 NA NA NA NA rs7873084 0.39 0.39 0.391 0.442093 0.1789 0.3869 0.379 0.733 0.4213 0.17 0.39 0.38 0.72 0.2851 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489907 NA NA 0.160037 0.646164 ID=COSN168469;OCCURENCE=2(large_intestine) 0.377 NA 3.375963 1314 2 71871236 71871236 A G intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA Name=FOXA1_(C-20),GATA3_(SC-268),p300 Name=6 NA rs84182 0.85 0.85 0.853 0.838259 0.8827 0.8085 0.7104 0.9002 0.8303 0.88 0.8 0.75 0.93 0.8594 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56047 NA NA 0.882093 0.904448 NA 0.833 NA 3.375807 1314 7 50672907 50672907 T C intronic GRB10 NA NA NA intronic ENSG00000106070 NA NA NA NA NA 7p12.1 NA NA NA NA rs4947709 0.58 0.58 NA 0.595048 0.6243 0.4931 0.6254 0.7035 0.502 0.61 0.44 0.64 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303756 NA NA NA NA NA 0.486 NA 3.3757 1314 8 139189502 139189502 T A intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA NA NA NA rs6985633 0.8 0.8 0.804 0.811502 0.6243 0.9812 0.7305 0.9115 0.7515 0.63 0.98 0.72 0.91 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478406 NA NA NA NA NA 0.739 NA 3.3757 1314 9 136184598 136184598 C T intergenic ABO,SURF6 dist=33968;dist=12954 NA NA upstream ENSG00000204031 NA NA NA NA NA 9q34.2 NA NA NA NA rs17150319 0.11 0.11 0.084 0.096845 0.1243 0.1617 0.0908 0.0174 0.1135 0.12 0.16 0.12 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489218 NA NA NA NA NA 0.145 NA 3.3757 1314 10 95987313 95987313 C T intronic PLCE1 NA NA NA intronic ENSG00000138193 NA NA NA NA NA 10q23.33 NA NA NA NA rs11187825 0.7 0.7 0.704 0.722644 0.6243 0.9276 0.5764 0.6891 0.7618 0.6 0.92 0.6 0.68 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16519 NA NA NA NA NA 0.703 NA 3.3757 1314 10 115405466 115405466 G A intronic NRAP NA NA NA intronic ENSG00000197893 NA NA NA NA NA 10q25.3 NA NA NA NA rs3121477 0.59 0.59 0.595 0.564297 0.6243 0.7103 0.6715 0.2965 0.638 0.61 0.71 0.68 0.33 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719125 NA NA NA NA NA 0.594 NA 3.3757 1314 11 49007280 49007280 C A intergenic OR4A47,TRIM49B dist=496006;dist=45872 NA NA downstream ENSG00000254764 NA NA NA NA NA 11p11.12 NA NA NA NA rs11040204 0.16 0.16 0.109 0.173123 0.1243 0.1657 0.1254 0.289 0.1084 0.12 0.16 0.12 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.226269 NA NA NA NA NA 0.065 NA 3.3757 1314 16 9012686 9012686 G A intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA NA NA rs12708738 0.56 0.56 0.6 0.568291 0.6243 0.6329 0.4942 0.5061 0.5808 0.62 0.61 0.48 0.46 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323773 NA NA NA NA NA 0.522 NA 3.3757 1314 19 14826849 14826849 T C intronic ZNF333 NA NA NA intronic ENSG00000160961 NA NA NA NA NA 19p13.12 NA NA NA NA rs4078586 0.75 0.75 0.736 0.812899 0.6243 0.8899 0.6988 0.9054 0.8834 0.64 0.85 0.65 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493113 NA NA NA NA NA 0.725 NA 3.3757 1314 12 50824232 50824232 A G intronic LARP4 NA NA NA intronic ENSG00000161813 NA NA NA NA NA 12q13.12 NA NA NA NA rs11612002 0.18 0.18 0.153 0.166933 0.1978 0.3165 0.2291 0.0166 0.1401 0.2 0.28 0.18 0.01 0.2177 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26698 NA NA 0.208862 0.052235 ID=COSN164243;OCCURENCE=1(breast) 0.145 NA 3.375638 1315 1 43279094 43279094 T C intronic CCDC23 NA NA NA intronic ENSG00000177868 NA NA NA NA NA 1p34.2 NA NA NA NA rs323714 0.65 0.65 0.639 0.710463 0.6252 0.7073 0.6484 0.7148 0.8395 0.62 0.66 0.66 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46642 NA NA NA NA NA 0.645 NA 3.3748 1315 2 206614646 206614646 T G intronic NRP2 NA NA NA intronic ENSG00000118257 NA NA NA NA NA 2q33.3 NA NA NA NA rs10932123 0.59 0.59 0.557 0.548722 0.6252 0.504 0.6124 0.6316 0.3589 0.62 0.47 0.63 0.66 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680137 NA NA NA NA NA 0.493 NA 3.3748 1315 3 12829315 12829315 G A intergenic TMEM40,CAND2 dist=28507;dist=8856 NA NA ncRNA_exonic ENSG00000213943 NA NA NA NA NA 3p25.2 NA NA NA NA rs1985428 0.5 0.5 0.492 0.491813 0.6252 0.4335 0.4438 0.5681 0.3456 0.61 0.39 0.43 0.5 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.380304 NA NA NA NA NA 0.442 NA 3.3748 1315 8 99016092 99016092 A G intronic MATN2 NA NA NA intronic ENSG00000132561 NA NA NA NA NA 8q22.2 NA NA NA NA rs10955143 0.53 0.53 0.533 0.52496 0.6252 0.2103 0.6182 0.7148 0.4233 0.64 0.2 0.59 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291486 NA NA NA NA NA 0.63 NA 3.3748 1315 19 14805719 14805719 T C intronic ZNF333 NA NA NA intronic ENSG00000160961 NA NA NA NA NA 19p13.12 NA NA NA NA rs3850141 0.75 0.75 0.754 0.811701 0.6252 0.8869 0.6916 0.9054 0.8845 0.64 0.85 0.65 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784996 NA NA NA NA NA 0.725 NA 3.3748 1315 19 52008530 52008530 G A intergenic SIGLEC12,SIGLEC6 dist=3487;dist=14254 NA NA ncRNA_exonic ENSG00000268839 NA NA NA NA NA 19q13.41 NA NA NA NA rs2864101 0.55 0.55 0.515 0.566893 0.6252 0.372 0.719 0.5469 0.6268 0.63 0.37 0.69 0.54 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.211215 NA NA NA NA NA 0.522 NA 3.3748 1315 17 45897531 45897531 C A intronic OSBPL7 NA NA NA intronic ENSG00000006025 NA NA NA NA NA 17q21.32 NA Name=ZBTB7A_(SC-34508),NRSF Name=15 NA rs1985407 0.75 0.75 0.718 0.733826 0.8907 0.7282 0.7464 0.587 0.7679 0.91 0.68 0.76 0.58 0.8344 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934099 NA NA 0.900233 0.651611 ID=COSN165453;OCCURENCE=1(breast) 0.674 NA 3.374667 1315 14 24838621 24838621 C T intronic NFATC4 NA NA NA UTR5 ENSG00000100968 ENST00000557451:c.-194C>T,ENST00000554661:c.-194C>T,ENST00000554344:c.-194C>T NA NA NA NA 14q12 NA NA NA NA rs1955915 0.52 0.52 0.482 0.5627 0.3469 0.7163 0.5418 0.5915 0.6022 0.35 0.71 0.49 0.58 0.4458 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542386 NA NA NA NA NA 0.384 NA 3.3739667 1315 2 152382329 152382329 G A intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs7597735 0.65 0.65 0.628 0.594649 0.6262 0.7123 0.6715 0.528 0.4765 0.61 0.74 0.68 0.57 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077409 NA NA NA NA NA 0.587 NA 3.3738 1315 13 111319884 111319884 G A intronic CARS2 NA NA NA intronic ENSG00000134905 NA NA NA NA NA 13q34 NA NA NA NA rs9521884 0.54 0.54 0.53 0.513778 0.6262 0.5585 0.464 0.3903 0.5542 0.63 0.58 0.48 0.39 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611802 NA NA NA NA NA 0.543 NA 3.3738 1315 14 91666018 91666018 G A intronic C14orf159 NA NA NA intronic ENSG00000133943 NA NA NA NA NA 14q32.11 NA NA NA NA rs12886645 0.53 0.53 0.499 0.464058 0.6262 0.6637 0.6066 0.1293 0.4427 0.63 0.7 0.57 0.16 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177236 NA NA NA NA NA 0.486 NA 3.3738 1315 20 1277157 1277157 G C intronic SNPH NA NA NA intronic ENSG00000101298 NA NA NA NA NA 20p13 NA NA NA NA rs6109320 0.65 0.65 0.659 0.630391 0.6262 0.5764 0.6484 0.7375 0.5327 0.62 0.57 0.65 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.836251 3.836251 NA NA NA NA 0.594 NA 3.3738 1315 17 40725656 40725656 G C intronic PSMC3IP NA NA NA intronic ENSG00000131470 NA NA NA NA NA 17q21.2 NA Name=ZNF263 NA NA rs2292752 0.54 0.54 0.543 0.585264 0.5229 0.4534 0.5159 0.708 0.6687 0.53 0.45 0.47 0.7 0.5617 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.865545 1.865545 NA 0.541744 0.684067 NA 0.667 NA 3.373656 1315 6 31113214 31113214 C A intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265074 0.24 0.24 0.214 0.254792 0.2097 0.3452 0.3329 0.1891 0.2413 0.21 0.29 0.31 0.19 0.2276 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.821126 2.821126 NA 0.189186 0.19133 NA 0.21 NA 3.373514 1315 16 56864398 56864398 C T intronic NUP93 NA NA NA intronic ENSG00000102900 NA NA NA NA NA 16q13 NA NA Name=2 NA rs1561140 0.65 0.65 0.653 0.684105 0.508 0.8304 0.6239 0.7481 0.6708 0.49 0.83 0.6 0.75 0.5826 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598627 NA NA 0.53593 0.696315 NA 0.587 NA 3.37347 1315 11 61508074 61508074 C T intronic DAGLA NA NA NA intronic ENSG00000134780 NA NA NA NA NA 11q12.2 NA NA NA NA rs11828739 0.19 0.19 0.155 0.232628 0.2087 0.1508 0.2478 0.2141 0.3558 0.22 0.13 0.27 0.17 0.2256 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173931 NA NA 0.192487 0.195277 NA 0.254 NA 3.373213 1315 9 2073514 2073514 A T intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA NA NA rs7864080 0.43 0.43 0.436 0.454273 0.2982 0.3234 0.4582 0.7897 0.2935 0.31 0.32 0.42 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615006 NA NA 0.328727 0.734056 NA 0.486 NA 3.373073 1315 6 38746263 38746263 A T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs1738260 0.3 0.3 0.273 0.291933 0.1948 0.4494 0.3905 0.2262 0.2485 0.21 0.46 0.34 0.21 0.2383 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661139 NA NA 0.194063 0.212211 NA 0.348 NA 3.372837 1315 1 165175374 165175374 G A intronic LMX1A NA NA NA intronic ENSG00000162761 NA NA NA NA NA 1q23.3 NA NA NA NA rs4656435 0.47 0.47 0.46 0.451478 0.6272 0.2778 0.4553 0.4614 0.4335 0.63 0.28 0.48 0.42 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.936405 NA NA NA NA NA 0.478 NA 3.3728 1315 6 47641307 47641307 G C intronic GPR111 NA NA NA intronic ENSG00000164393 NA NA NA NA NA 6p12.3 NA NA NA NA rs1411049 0.48 0.48 0.495 0.516374 0.6272 0.3085 0.4352 0.4697 0.7372 0.62 0.3 0.49 0.48 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411628 NA NA NA NA NA 0.428 NA 3.3728 1315 7 2269552 2269552 G T intronic MAD1L1 NA NA NA intronic ENSG00000002822 NA NA NA NA NA 7p22.3 NA NA NA NA rs1637728 0.69 0.69 0.68 0.693091 0.6272 0.62 0.7032 0.8449 0.6237 0.61 0.63 0.71 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293368 NA NA NA NA NA 0.775 NA 3.3728 1315 17 7246940 7246940 T G intronic ACAP1 NA NA NA intronic ENSG00000072818 NA NA NA NA NA 17p13.1 NA NA NA NA rs3809829 0.6 0.6 0.585 0.597644 0.6272 0.4415 0.5908 0.7784 0.4888 0.61 0.46 0.58 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.084703 NA NA NA NA NA 0.674 NA 3.3728 1315 19 10752968 10752968 A G intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA NA NA NA rs10405617 0.72 0.72 0.717 0.774361 0.6272 0.7113 0.7925 0.9493 0.7413 0.63 0.65 0.75 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645967 NA NA NA NA NA 0.681 NA 3.3728 1315 19 52003058 52003058 C T intronic SIGLEC12 NA NA NA intronic ENSG00000254521 NA NA NA NA NA 19q13.41 NA NA NA NA rs10420446 0.55 0.55 0.542 0.565895 0.6272 0.37 0.7219 0.5522 0.6125 0.63 0.37 0.7 0.54 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400274 NA NA NA NA NA 0.522 NA 3.3728 1315 19 52003089 52003089 C T intronic SIGLEC12 NA NA NA intronic ENSG00000254521 NA NA NA NA NA 19q13.41 NA NA NA NA rs10420457 0.55 0.55 0.541 0.565695 0.6272 0.37 0.7219 0.5514 0.6125 0.63 0.37 0.7 0.54 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26509 NA NA NA NA NA 0.522 NA 3.3728 1315 19 52008293 52008293 T A intergenic SIGLEC12,SIGLEC6 dist=3250;dist=14491 NA NA downstream ENSG00000268839 NA NA NA NA NA 19q13.41 NA NA NA NA rs75199020 0.11 0.11 0.114 0.091853 0.1272 0.001 0.0735 0.1899 0.0297 0.13 NA 0.09 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270967 NA NA NA NA NA 0.152 NA 3.3728 1315 20 62599141 62599141 C T intronic ZNF512B NA NA NA intronic ENSG00000196700 NA NA NA NA NA 20q13.33 NA NA NA NA rs817331 0.13 0.13 0.125 0.134385 0.2197 0.0149 0.1239 0.1505 0.1554 0.22 0.02 0.14 0.13 0.1954 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167183 NA NA 0.212209 0.183386 NA 0.188 NA 3.372691 1315 19 7734369 7734369 C T intronic RETN NA NA NA intronic ENSG00000104918 NA NA NA NA NA 19p13.2 NA NA NA NA rs3219177 0.14 0.14 0.131 0.165735 0.1988 0.0208 0.1268 0.1536 0.3252 0.2 0.03 0.15 0.16 0.2032 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.53087 1.53087 NA 0.225465 0.160009 NA 0.188 NA 3.372535 1315 5 13820656 13820656 G A intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs6554817 0.28 0.28 0.263 0.260583 0.2127 0.5476 0.1787 0.1884 0.1697 0.22 0.5 0.17 0.21 0.2133 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928834 NA NA 0.20186 0.187472 NA 0.232 NA 3.37214 1315 6 44268135 44268135 C T UTR3 AARS2 NM_020745:c.*149G>A NA NA UTR3 ENSG00000124608 ENST00000244571:c.*149G>A NA NA NA NA 6p21.1 NA NA NA NA rs325009 0.9 0.9 0.895 0.879593 0.9612 0.998 0.951 0.6354 0.953 0.96 1 0.95 0.66 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91259 NA NA NA NA NA 0.87 NA 3.3721334 1315 2 182430120 182430120 C A intronic CERKL NA NA NA intronic ENSG00000188452 NA NA NA NA NA 2q31.3 NA NA NA NA rs7604902 0.24 0.24 0.247 0.248403 0.2157 0.1389 0.304 0.3865 0.1687 0.21 0.16 0.27 0.36 0.2114 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275573 NA NA 0.200784 0.335071 NA 0.174 NA 3.372116 1315 4 104003993 104003993 A C intronic BDH2 NA NA NA intronic ENSG00000164038,ENSG00000164039 NA NA NA NA NA 4q24 NA NA NA NA rs56412006 0.23 0.23 0.22 0.272564 0.2087 0.1597 0.2334 0.3873 0.3272 0.2 0.14 0.23 0.37 0.2213 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008013 NA NA 0.198023 0.33409 NA 0.333 NA 3.371977 1315 1 120015567 120015567 C G intergenic HSD3B2,HSD3B1 dist=49905;dist=34259 NA NA ncRNA_intronic ENSG00000187481 NA NA NA NA NA 1p12 NA NA NA NA rs4659181 0.64 0.64 0.638 0.644569 0.6282 0.6359 0.7507 0.5749 0.6892 0.63 0.66 0.71 0.6 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783932 NA NA NA NA NA 0.652 NA 3.3718 1315 2 24432620 24432620 A G intronic ITSN2 NA NA NA intronic ENSG00000198399 NA NA NA NA NA 2p23.3 NA NA NA NA rs2303294 0.67 0.67 0.628 0.676917 0.6282 0.7877 0.7608 0.5779 0.6871 0.63 0.78 0.73 0.56 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17188 NA NA NA NA NA 0.58 NA 3.3718 1315 2 233752639 233752639 A T intronic NGEF NA NA NA intronic ENSG00000066248 NA NA NA NA NA 2q37.1 NA NA NA NA rs2250665 0.66 0.66 0.658 0.594649 0.6282 0.6319 0.6441 0.6921 0.3548 0.63 0.67 0.66 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674058 NA NA NA NA NA 0.681 NA 3.3718 1315 5 153406644 153406644 C T intronic FAM114A2 NA NA NA intronic ENSG00000055147 NA NA NA NA NA 5q33.2 NA NA NA NA rs9324765 0.71 0.71 0.702 0.715855 0.6282 0.8581 0.7161 0.6256 0.7812 0.64 0.87 0.67 0.64 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622551 NA NA NA NA NA 0.674 NA 3.3718 1315 9 36013160 36013160 A G intergenic OR2S2,RECK dist=55009;dist=23750 NA NA upstream ENSG00000228307 NA NA NA NA NA 9p13.3 NA NA NA NA rs6476504 0.23 0.23 0.233 0.246406 0.1282 0.2748 0.1239 0.4153 0.1973 0.12 0.27 0.13 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.855309 3.855309 NA NA NA NA 0.312 NA 3.3718 1315 9 139815053 139815053 G A intronic TRAF2 NA NA NA intronic ENSG00000127191 NA NA NA NA NA 9q34.3 NA NA NA NA rs10781522 0.6 0.6 0.625 0.625799 0.6282 0.7173 0.4366 0.5658 0.7444 0.62 0.75 0.46 0.52 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526017 NA NA NA NA NA 0.659 NA 3.3718 1315 12 124207098 124207098 T C intronic ATP6V0A2 NA NA NA intronic ENSG00000185344 NA NA NA NA NA 12q24.31 NA NA NA NA rs7301641 0.74 0.74 0.73 0.750998 0.6282 0.9474 0.7723 0.7027 0.7249 0.63 0.95 0.74 0.67 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385727 NA NA NA NA NA 0.761 NA 3.3718 1315 7 142198067 142198067 A G intergenic LOC730441,MTRNR2L6 dist=225999;dist=176064 NA NA ncRNA_exonic ENSG00000241657 NA NA NA NA NA 7q34 NA NA NA NA rs17277 0.42 0.42 0.397 0.427117 0.3151 0.5347 0.3631 0.4788 0.407 0.31 0.57 0.35 0.47 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01326 NA NA 0.313325 0.442919 NA 0.312 NA 3.371575 1315 5 148627252 148627252 G A intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs9325136 0.5 0.5 0.495 0.527756 0.4205 0.6171 0.415 0.6407 0.4734 0.41 0.57 0.4 0.65 0.5413 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957236 NA NA NA NA NA 0.551 NA 3.3715333 1315 14 93693422 93693422 C T UTR3 UBR7 NM_175748:c.*41C>T NA NA UTR3 ENSG00000012963 ENST00000416753:c.*41C>T,ENST00000013070:c.*41C>T,ENST00000553674:c.*1020C>T,ENST00000555329:c.*41C>T NA NA NA NA 14q32.12 NA NA NA NA rs2905 0.23 0.23 0.202 0.194489 0.329 0.2669 0.281 0.0204 0.1554 0.33 0.26 0.28 0.02 0.2996 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7741 NA NA 0.333256 0.067862 NA 0.188 NA 3.3714774 1315 10 92645687 92645687 A G intronic RPP30 NA NA NA intronic ENSG00000148688 NA NA NA NA NA 10q23.31 NA NA NA NA rs4144422 0.25 0.25 0.251 0.267173 0.2058 0.1667 0.1902 0.4644 0.2219 0.2 0.18 0.19 0.43 0.2192 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03437 NA NA 0.203583 0.422379 NA 0.268 NA 3.371417 1315 7 50544314 50544314 C T intronic DDC NA NA NA intronic ENSG00000132437 NA NA NA NA NA 7p12.1 NA NA NA NA rs4490786 0.2 0.2 0.209 0.198283 0.2197 0.1349 0.2378 0.2201 0.184 0.21 0.17 0.17 0.25 0.2089 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614688 NA NA 0.2 0.228098 ID=COSM150294;OCCURENCE=1(stomach) 0.312 NA 3.3714 1315 22 50316835 50316835 T C intronic CRELD2 NA NA NA intronic ENSG00000184164 NA NA NA NA NA 22q13.33 NA NA NA NA rs7410304 0.27 0.27 0.276 0.317292 0.2058 0.1796 0.1657 0.5613 0.3517 0.22 0.18 0.17 0.54 0.2312 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054412 NA NA 0.191639 0.455051 NA 0.312 NA 3.371361 1315 7 142198062 142198062 C A intergenic LOC730441,MTRNR2L6 dist=225994;dist=176069 NA NA ncRNA_exonic ENSG00000241657 NA NA NA NA NA 7q34 NA NA NA NA rs17278 0.42 0.42 0.392 0.427117 0.3151 0.5347 0.3631 0.4788 0.407 0.31 0.58 0.35 0.47 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.501412 NA NA 0.313639 0.442919 NA 0.312 NA 3.371261 1315 4 113377127 113377127 G T intergenic ALPK1,NEUROG2 dist=13363;dist=57545 NA NA ncRNA_exonic ENSG00000248697 NA NA NA NA NA 4q25 NA NA NA NA rs231266 0.63 0.63 0.647 0.628195 0.6292 0.6508 0.4957 0.7126 0.5838 0.62 0.66 0.52 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.703245 NA NA NA NA NA 0.594 NA 3.3708 1315 10 33232956 33232956 G C intronic ITGB1 NA NA NA intronic ENSG00000150093 NA NA NA NA NA 10p11.22 NA NA NA NA rs2488335 0.4 0.4 0.364 0.3752 0.6292 0.3313 0.4928 0.0877 0.4642 0.63 0.31 0.51 0.09 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091632 NA NA NA NA NA 0.413 NA 3.3708 1315 19 10787744 10787744 C G intronic ILF3 NA NA NA intronic ENSG00000129351 NA NA NA NA NA 19p13.2 NA NA NA NA rs1982075 0.72 0.72 0.726 0.775759 0.6292 0.7063 0.7939 0.9508 0.7485 0.62 0.65 0.75 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236561 NA NA NA NA NA 0.674 NA 3.3708 1315 3 122004098 122004098 A T UTR3 CASR NM_000388:c.*60A>T,NM_001178065:c.*60A>T NA NA UTR3 ENSG00000036828 ENST00000490131:c.*60A>T,ENST00000498619:c.*60A>T,ENST00000296154:c.*60A>T NA NA NA NA 3q21.1 NA NA NA NA rs4677948 0.92 0.92 0.911 0.920128 0.9632 0.9802 0.9798 0.7844 0.955 0.96 0.99 0.98 0.75 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.19076 NA NA NA NA NA 0.92 NA 3.3701334 1315 11 82561339 82561339 G A intronic PRCP NA NA NA intronic ENSG00000137509 NA NA NA NA NA 11q14.1 NA NA NA NA rs13306597 0.24 0.24 0.229 0.26258 0.1988 0.1796 0.2651 0.3616 0.2781 0.2 0.18 0.29 0.35 0.228 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.978522 NA NA 0.20314 0.343849 NA 0.159 NA 3.37006 1315 22 41833116 41833116 C T exonic TOB2 NA synonymous SNV TOB2:NM_016272:exon2:c.G234A:p.A78A exonic ENSG00000183864 NA synonymous SNV ENSG00000183864:ENST00000327492:exon2:c.G234A:p.A78A,ENSG00000183864:ENST00000434408:exon2:c.G234A:p.A78A NA NA 22q13.2 NA NA NA NA rs202641 0.74 0.74 0.768 0.71266 0.7773 0.9435 0.5202 0.6619 0.6135 0.78 0.94 0.51 0.63 0.7318 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29085 NA NA 0.787558 0.672492 NA 0.645 NA 3.3700086 1315 16 90109711 90109711 A G exonic GAS8 NA synonymous SNV GAS8:NM_001481:exon11:c.A1395G:p.T465T exonic ENSG00000141013 NA synonymous SNV ENSG00000141013:ENST00000268699:exon11:c.A1395G:p.T465T,ENSG00000141013:ENST00000536122:exon11:c.A1320G:p.T440T NA NA 16q24.3 NA NA NA NA rs3743825 0.83 0.83 0.811 0.844249 0.7386 0.8472 0.8112 0.9834 0.7853 0.74 0.83 0.8 0.98 0.7945 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.058256 NA NA 0.763721 0.957234 NA 0.87 NA 3.3698456 1315 2 152403014 152403014 C T intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs4664486 0.59 0.59 0.567 0.524361 0.6302 0.5536 0.6599 0.444 0.3978 0.62 0.6 0.65 0.49 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.990388 NA NA NA NA NA 0.587 NA 3.3698 1315 8 19680736 19680736 T C intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs12547934 0.64 0.64 0.627 0.643371 0.6302 0.6429 0.549 0.7126 0.6309 0.63 0.62 0.57 0.7 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032427 NA NA NA NA NA 0.703 NA 3.3698 1315 11 11292859 11292859 G T intronic GALNT18 NA NA NA intronic ENSG00000110328 NA NA NA NA NA 11p15.3 NA NA NA NA rs12282460 0.2 0.2 0.161 0.174321 0.2187 0.2381 0.2291 0.0719 0.1626 0.22 0.23 0.22 0.1 0.2015 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669201 NA NA 0.210293 0.104725 NA 0.181 NA 3.369507 1315 17 41170898 41170898 T C intronic VAT1 NA NA NA UTR5 ENSG00000108828 ENST00000589828:c.-97A>G NA NA NA NA 17q21.31 NA NA NA NA rs429464 0.84 0.84 0.847 0.800319 0.7972 0.9187 0.8184 0.7511 0.7352 0.8 0.94 0.79 0.82 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065895 NA NA NA NA NA 0.833 NA 3.3694667 1315 16 58327646 58327646 A G exonic PRSS54 NA synonymous SNV PRSS54:NM_001080492:exon3:c.T75C:p.Y25Y exonic ENSG00000103023 NA synonymous SNV ENSG00000103023:ENST00000219301:exon3:c.T75C:p.Y25Y,ENSG00000103023:ENST00000567164:exon3:c.T75C:p.Y25Y,ENSG00000103023:ENST00000569727:exon3:c.T75C:p.Y25Y NA NA 16q21 NA NA NA NA rs2288012 0.74 0.74 0.745 0.733427 0.7773 0.631 0.6167 0.9115 0.636 0.79 0.59 0.65 0.91 0.7445 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.478936 NA NA 0.775465 0.886943 ID=COSM148089;OCCURENCE=1(stomach) 0.804 NA 3.3694016 1315 12 56091617 56091617 A G intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs2293412 0.68 0.68 0.605 0.702676 0.497 0.9355 0.6715 0.6679 0.7434 0.51 0.93 0.64 0.67 0.6206 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165095 NA NA 0.513023 0.66591 NA 0.609 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079975.1;CLNDSDB=.;CLNDSDBID=. 3.369377 1315 19 54544189 54544189 C T UTR3 VSTM1 NM_198481:c.*26G>A NA NA UTR3 ENSG00000189068 ENST00000338372:c.*26G>A,ENST00000419106:c.*26G>A,ENST00000447872:c.*234G>A,ENST00000376626:c.*26G>A NA NA NA NA 19q13.42 NA NA NA NA rs2303558 0.23 0.23 0.207 0.200879 0.3569 0.0665 0.33 0.1505 0.1554 0.35 0.08 0.31 0.16 0.2767 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543295 NA NA 0.330814 0.174989 NA 0.225 NA 3.3689194 1315 1 11807426 11807426 C T intronic AGTRAP NA NA NA intronic ENSG00000177674 NA NA NA NA NA 1p36.22 NA NA NA NA rs12752700 0.61 0.61 0.569 0.555911 0.6312 0.8839 0.6758 0.177 0.5675 0.63 0.89 0.65 0.2 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061924 NA NA NA NA NA 0.428 NA 3.3688 1315 7 2257467 2257467 A G intronic MAD1L1 NA NA NA intronic ENSG00000002822 NA NA NA NA NA 7p22.3 NA NA NA NA rs1639914 0.69 0.69 0.69 0.701278 0.6312 0.6141 0.7046 0.8525 0.6564 0.61 0.62 0.71 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155006 NA NA NA NA NA 0.775 NA 3.3688 1315 7 2260715 2260715 G T intronic MAD1L1 NA NA NA intronic ENSG00000002822 NA NA NA NA NA 7p22.3 NA NA NA NA rs1639917 0.65 0.65 0.665 0.670927 0.6312 0.5069 0.6441 0.8517 0.6554 0.61 0.52 0.65 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766091 NA NA NA NA NA 0.768 NA 3.3688 1315 14 44589970 44589970 T C intergenic NONE,FSCB dist=NONE;dist=383384 NA NA ncRNA_intronic ENSG00000258969 NA NA NA NA NA 14q21.2 NA NA NA NA rs3809431 0.64 0.64 0.618 0.626597 0.6312 0.6647 0.611 0.593 0.6391 0.62 0.68 0.65 0.6 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650079 NA NA NA NA NA 0.616 NA 3.3688 1315 19 14862517 14862517 A G intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs3752189 0.44 0.44 NA 0.494209 0.2664 0.5169 0.3833 0.6536 0.5685 0.29 0.51 0.35 0.64 0.3649 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891212 NA NA NA NA NA 0.377 NA 3.3687 1315 1 63920515 63920515 C G intronic ITGB3BP NA NA NA intronic ENSG00000142856 NA NA NA NA NA 1p31.3 NA NA NA NA rs17319708 0.12 0.12 0.092 0.0872604 0.2266 0.0268 0.1859 0.0061 0.046 0.22 0.03 0.21 0.0041 0.1766 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068691 NA NA 0.228451 0.04319 NA 0.123 NA 3.368349 1315 16 84441989 84441989 C T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs9935544 0.27 0.27 0.306 0.272564 0.2197 0.2331 0.1556 0.5204 0.1155 0.21 0.2 0.17 0.52 0.2127 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89835 NA NA 0.199449 0.469552 NA 0.355 NA 3.368151 1315 1 53364976 53364976 A G intronic ECHDC2 NA NA NA intronic ENSG00000121310 NA NA NA NA NA 1p32.3 NA NA NA NA rs576891 0.58 0.58 0.633 0.588059 0.6322 0.256 0.4294 0.8911 0.5879 0.63 0.3 0.49 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.771785 1.771785 NA NA NA NA 0.609 NA 3.3678 1315 11 18931819 18931819 C T intergenic PTPN5,MRGPRX1 dist=118430;dist=23541 NA NA downstream ENSG00000255536 NA NA NA NA NA 11p15.1 NA NA NA NA rs11024877 0.08 0.08 0.084 0.0678914 0.1322 NA 0.0692 0.1074 0.0174 0.12 NA 0.08 0.13 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.053845 NA NA NA NA NA 0.051 NA 3.3678 1315 12 130839645 130839645 A C intronic PIWIL1 NA NA NA intronic ENSG00000125207 NA NA NA NA NA 12q24.33 NA NA NA NA rs1874521 0.45 0.45 0.452 0.489816 0.6322 0.377 0.3718 0.3487 0.7342 0.61 0.4 0.41 0.32 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517612 NA NA NA NA NA 0.543 NA 3.3678 1315 19 8137908 8137908 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA Name=Max NA NA rs28657412 0.6 0.6 0.585 0.575479 0.5586 0.3333 0.6455 0.8964 0.3589 0.57 0.37 0.64 0.87 0.5534 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481189 NA NA 0.520465 0.842941 NA 0.601 NA 3.367535 1315 7 156754981 156754981 T C intronic NOM1 NA NA NA intronic ENSG00000146909 NA NA NA NA NA 7q36.3 NA NA NA NA rs3750131 0.25 0.25 0.26 0.264776 0.2038 0.2877 0.2795 0.2738 0.2812 0.22 0.29 0.25 0.25 0.231 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065086 NA NA 0.197791 0.266682 NA 0.167 NA 3.367409 1315 3 42362817 42362817 T C intergenic CCK,LYZL4 dist=55155;dist=75758 NA NA ncRNA_exonic ENSG00000231280 NA NA NA NA NA 3p22.1 NA NA NA NA rs678574 0.51 0.51 0.455 0.464058 0.6332 0.501 0.5965 0.2428 0.4571 0.62 0.47 0.62 0.29 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725885 NA NA NA NA NA 0.558 NA 3.3668 1315 4 143324036 143324036 T C intronic INPP4B NA NA NA intronic ENSG00000109452 NA NA NA NA NA 4q31.21 NA NA NA NA rs1982965 0.56 0.56 0.524 0.546126 0.6332 0.7034 0.5346 0.1619 0.8221 0.67 0.73 0.54 0.18 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548573 NA NA NA NA NA 0.522 NA 3.3668 1315 9 130198342 130198342 G A intronic ZNF79 NA NA NA intronic ENSG00000196152 NA NA NA NA NA 9q33.3 NA NA NA NA rs4500179 0.57 0.57 0.565 0.557708 0.6332 0.4127 0.6499 0.6074 0.4969 0.64 0.41 0.61 0.61 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098327 NA NA NA NA NA 0.471 NA 3.3668 1315 21 45053011 45053011 A G intronic HSF2BP NA NA NA intronic ENSG00000160207 NA NA NA NA NA 21q22.3 NA NA NA NA rs7277539 0.71 0.71 0.719 0.72504 0.6332 0.8056 0.7349 0.7496 0.6963 0.63 0.79 0.71 0.76 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240262 NA NA NA NA NA 0.681 NA 3.3668 1315 17 6704273 6704273 G A intronic TEKT1 NA NA NA intronic ENSG00000167858 NA NA NA NA NA 17p13.1 NA NA NA NA rs2136282 0.24 0.24 0.203 0.236821 0.2068 0.4157 0.281 0.0847 0.2577 0.2 0.44 0.23 0.07 0.2299 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.602132 3.602132 NA 0.196744 0.10168 NA 0.232 NA 3.366556 1315 1 1636274 1636274 C T intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs2179381 0.33 0.33 0.248 0.296725 0.5209 0.249 0.4251 0.0688 0.3323 0.51 0.25 0.41 0.07 0.446 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386443 NA NA NA NA NA 0.145 NA 3.3664333 1315 22 50303515 50303515 A C intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs9616367 0.22 0.22 0.234 0.265375 0.2038 0.1081 0.1369 0.4054 0.3926 0.21 0.12 0.15 0.42 0.2246 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385661 NA NA 0.205349 0.350885 ID=COSN166789;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.341 NA 3.366251 1315 9 130198100 130198100 A G intronic ZNF79 NA NA NA intronic ENSG00000196152 NA NA NA NA NA 9q33.3 NA NA NA NA rs7853047 0.57 0.57 0.567 0.557508 0.6342 0.4107 0.6499 0.6074 0.4969 0.64 0.41 0.61 0.61 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870005 NA NA NA NA NA 0.471 NA 3.3658 1315 12 10602077 10602077 C T intronic KLRC1 NA NA NA intronic ENSG00000134545 NA NA NA NA NA 12p13.2 NA NA NA NA rs2734440 0.53 0.53 0.504 0.49401 0.6342 0.5942 0.5908 0.205 0.5685 0.63 0.64 0.57 0.23 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897 NA NA NA NA NA 0.478 NA 3.3658 1315 17 61783908 61783908 A G intronic STRADA NA NA NA intronic ENSG00000125695,ENSG00000266173 NA NA NA NA NA 17q23.3 NA NA NA NA rs3817182 0.68 0.68 NA 0.716853 0.6342 0.5665 0.7003 0.8669 0.7658 0.63 0.59 0.65 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371498 NA NA NA NA NA 0.739 NA 3.3658 1315 19 43454562 43454562 G T intergenic PSG7,PSG11 dist=13232;dist=57247 NA NA upstream ENSG00000227349 NA NA NA NA NA 19q13.31 NA NA NA NA rs115587530 0.1 0.1 0.076 0.0914537 0.1342 0.003 0.2089 0.0484 0.1135 0.14 0.0017 0.2 0.07 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609381 NA NA NA NA NA 0.159 NA 3.3658 1315 4 86643155 86643155 A C intronic ARHGAP24 NA NA NA intronic ENSG00000138639 NA NA NA NA NA 4q21.23 NA NA NA NA rs17010697 0.29 0.29 0.28 0.286741 0.2167 0.3323 0.3069 0.298 0.2822 0.22 0.37 0.28 0.3 0.2478 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802654 NA NA 0.169767 0.270086 NA 0.283 NA 3.365733 1315 13 25052420 25052420 T A intronic PARP4 NA NA NA ncRNA_intronic ENSG00000243008 NA NA NA NA NA 13q12.12 NA NA NA NA rs17080653 0.29 0.29 0.237 0.302316 0.3181 0.2698 0.4107 0.1301 0.4755 0.31 0.31 0.41 0.15 0.327 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518163 NA NA 0.322907 0.142306 NA 0.246 NA 3.3653263 1315 20 3731622 3731622 C T intronic HSPA12B NA NA NA intronic ENSG00000132622 NA NA NA NA NA 20p13 NA NA NA NA rs2474437 0.38 0.38 0.353 0.403155 0.3201 0.4554 0.389 0.4425 0.3916 0.32 0.42 0.36 0.44 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480403 NA NA 0.314896 0.431358 NA 0.413 NA 3.365004 1316 8 80965739 80965739 C T intronic TPD52 NA NA NA intronic ENSG00000076554 NA NA NA NA NA 8q21.13 NA NA NA NA rs2303446 0.56 0.56 0.548 0.554513 0.6352 0.6865 0.4986 0.3782 0.6135 0.63 0.66 0.52 0.38 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.416267 NA NA NA NA NA 0.529 NA 3.3648 1316 10 118364842 118364842 A G intronic PNLIPRP1 NA NA NA intronic ENSG00000187021 NA NA NA NA NA 10q25.3 NA NA NA NA rs2915753 0.58 0.58 0.563 0.580871 0.6352 0.4881 0.7061 0.5272 0.6043 0.63 0.47 0.69 0.53 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286784 NA NA NA NA NA 0.659 NA 3.3648 1316 12 94984896 94984896 C T intronic TMCC3 NA NA NA intronic ENSG00000057704 NA NA NA NA NA 12q22 NA NA NA NA rs7975236 0.62 0.62 0.612 0.611422 0.6352 0.5466 0.67 0.6278 0.59 0.64 0.56 0.68 0.63 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.894195 NA NA NA NA NA 0.572 NA 3.3648 1316 12 94984900 94984900 A C intronic TMCC3 NA NA NA intronic ENSG00000057704 NA NA NA NA NA 12q22 NA NA NA NA rs7975133 0.62 0.62 0.609 0.611422 0.6352 0.5466 0.67 0.6278 0.59 0.64 0.56 0.68 0.63 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81133 NA NA NA NA NA 0.572 NA 3.3648 1316 12 94984929 94984929 C G intronic TMCC3 NA NA NA intronic ENSG00000057704 NA NA NA NA NA 12q22 NA NA NA NA rs11107615 0.62 0.62 0.619 0.611022 0.6352 0.5466 0.67 0.6256 0.591 0.64 0.56 0.68 0.63 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54251 NA NA NA NA NA 0.572 NA 3.3648 1316 13 101890040 101890040 A G intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA NA NA rs9518352 0.73 0.73 0.689 0.692093 0.6352 0.9355 0.7637 0.5673 0.6176 0.66 0.96 0.74 0.56 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357793 NA NA NA NA NA 0.493 NA 3.3648 1316 11 6816778 6816778 A G exonic OR6A2 NA synonymous SNV OR6A2:NM_003696:exon1:c.T162C:p.S54S exonic ENSG00000184933 NA synonymous SNV ENSG00000184933:ENST00000332601:exon1:c.T162C:p.S54S NA NA 11p15.4 NA NA NA NA rs866347 0.7 0.7 0.704 0.694289 0.8032 0.8224 0.5922 0.4781 0.8149 0.81 0.82 0.63 0.47 0.7306 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004951 NA NA 0.768622 0.521808 ID=COSM1179746;OCCURENCE=1(prostate) 0.645 NA 3.3642446 1316 15 34133130 34133130 A G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA Name=MafK_(ab50322),MafF_(M8194) NA NA rs3764232 0.54 0.54 0.546 0.607228 0.5219 0.369 0.6153 0.7935 0.683 0.5 0.36 0.58 0.77 0.5707 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926068 NA NA 0.54342 0.743174 NA 0.616 NA 3.36398 1316 3 111793316 111793316 G T intronic TMPRSS7 NA NA NA intronic ENSG00000176040 NA NA NA NA NA 3q13.2 NA NA NA NA rs191454 0.62 0.62 0.598 0.601438 0.6362 0.6022 0.6268 0.5923 0.5593 0.64 0.65 0.59 0.57 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.930893 NA NA NA NA NA 0.645 NA 3.3638 1316 4 99877402 99877402 T G intergenic EIF4E,METAP1 dist=25616;dist=39386 NA NA ncRNA_exonic ENSG00000214886 NA NA NA NA NA 4q23 NA NA NA NA rs1230148 0.79 0.79 0.81 0.810903 0.6362 0.875 0.7248 0.9811 0.7556 0.63 0.9 0.7 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509311 NA 1 NA NA NA 0.862 NA 3.3638 1316 14 25736453 25736453 G A intergenic STXBP6,NOVA1 dist=217358;dist=1178636 NA NA ncRNA_exonic ENSG00000257179 NA NA NA NA NA 14q12 NA NA NA NA rs1888368 0.73 0.73 0.697 0.735623 0.6362 0.7887 0.5692 0.8646 0.727 0.63 0.81 0.6 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046747 NA NA NA NA NA 0.783 NA 3.3638 1316 15 42437711 42437711 T C intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs621560 0.47 0.47 0.461 0.414137 0.6362 0.2103 0.4164 0.4796 0.3057 0.64 0.23 0.46 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313944 NA NA NA NA NA 0.543 NA 3.3638 1316 17 11827353 11827353 T C intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs2286300 0.63 0.63 0.605 0.643371 0.6362 0.6825 0.7219 0.5575 0.6708 0.64 0.67 0.73 0.52 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404068 NA NA NA NA NA 0.623 NA 3.3638 1316 19 7692058 7692058 G A intronic XAB2 NA NA NA intronic ENSG00000076924 NA NA NA NA NA 19p13.2 NA NA NA NA rs794084 0.53 0.53 0.507 0.515176 0.6362 0.3472 0.5793 0.5673 0.4479 0.63 0.34 0.55 0.56 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022141 NA NA NA NA NA 0.63 NA 3.3638 1316 19 8994285 8994285 T A intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs752410 0.52 0.52 0.503 0.464257 0.6362 0.4593 0.5533 0.3177 0.4274 0.62 0.53 0.59 0.32 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371753 NA NA NA NA NA 0.493 NA 3.3638 1316 19 44055898 44055898 C T intronic XRCC1 NA NA NA intronic ENSG00000073050 NA NA NA NA NA 19q13.31 NA NA NA NA rs25486 0.72 0.72 0.723 0.717053 0.6362 0.7569 0.6772 0.8147 0.6554 0.65 0.74 0.68 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335573 NA NA NA NA NA 0.732 NA 3.3638 1316 12 9020912 9020912 A G exonic A2ML1 NA synonymous SNV A2ML1:NM_144670:exon31:c.A4020G:p.Q1340Q exonic ENSG00000166535 NA synonymous SNV ENSG00000166535:ENST00000539547:exon20:c.A2547G:p.Q849Q,ENSG00000166535:ENST00000541459:exon20:c.A2670G:p.Q890Q,ENSG00000166535:ENST00000299698:exon31:c.A4020G:p.Q1340Q NA NA 12p13.31 NA NA NA NA rs1476910 0.67 0.67 0.711 0.677716 0.7734 0.5427 0.6758 0.6301 0.7843 0.78 0.54 0.71 0.63 0.7352 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.465231 NA NA 0.794366 0.644972 ID=COSM1364799;OCCURENCE=1(large_intestine) 0.812 NA 3.3637006 1316 7 5334582 5334582 C T intronic SLC29A4 NA NA NA intronic ENSG00000164638 NA NA NA NA NA 7p22.1 NA NA NA NA rs59119551 0.25 0.25 0.213 0.302117 0.2008 0.5109 0.2305 0.0908 0.5276 0.2 0.5 0.2 0.08 0.2654 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.770983 1.770983 NA 0.170893 0.097866 NA 0.21 NA 3.362907 1316 22 17385626 17385626 C G intergenic HSFY1P1,GAB4 dist=75401;dist=57201 NA NA upstream ENSG00000230481 NA NA NA NA NA 22q11.1 NA NA NA NA rs71326282 0.06 0.06 NA NA NA NA NA NA NA 0.06 0.05 0.11 0.02 0.1371 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654433 NA NA NA NA NA NA NA 3.3629 1316 3 53883910 53883910 C T intronic IL17RB NA NA NA intronic ENSG00000056736 NA NA NA NA NA 3p21.1 NA NA NA NA rs4687751 0.53 0.53 0.548 0.51238 0.6372 0.4712 0.4928 0.3722 0.6299 0.63 0.51 0.53 0.41 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203131 NA NA NA NA NA 0.5 NA 3.3628 1316 4 1089740 1089740 C T intronic RNF212 NA NA NA intronic ENSG00000178222 NA NA NA NA NA 4p16.3 NA NA NA NA rs57096673 NA NA NA 0.677117 0.6372 0.6121 0.5648 0.8487 0.6329 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737455 NA NA NA NA NA NA NA 3.3628 1316 7 158512836 158512836 T C intergenic NCAPG2,ESYT2 dist=15316;dist=10853 NA NA ncRNA_exonic ENSG00000228030 NA NA NA NA NA 7q36.3 NA NA NA NA rs35478545 0.51 0.51 0.486 0.477037 0.6372 0.3661 0.6167 0.3245 0.5337 0.65 0.41 0.6 0.33 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171204 NA NA NA NA NA 0.594 NA 3.3628 1316 14 36334030 36334030 G C intronic BRMS1L NA NA NA intronic ENSG00000100916 NA NA NA NA NA 14q13.2 NA NA NA NA rs12890607 0.33 0.33 0.272 0.28115 0.6372 0.1637 0.3991 0.0272 0.2955 0.64 0.14 0.42 0.04 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064829 NA NA NA NA NA 0.391 NA 3.3628 1316 17 2196088 2196088 C T intronic SMG6 NA NA NA intronic ENSG00000070366 NA NA NA NA NA 17p13.3 NA NA NA NA rs216206 0.6 0.6 0.577 0.574481 0.6372 0.7629 0.6412 0.3139 0.6207 0.63 0.78 0.64 0.33 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.703518 NA NA NA NA NA 0.543 NA 3.3628 1316 20 49196167 49196167 T C intronic PTPN1 NA NA NA intronic ENSG00000196396 NA NA NA NA NA 20q13.13 NA NA NA NA rs2282147 0.64 0.64 0.631 0.625599 0.6372 0.6855 0.6138 0.559 0.6503 0.64 0.71 0.62 0.59 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600048 NA NA NA NA NA 0.703 NA 3.3628 1316 18 214959 214959 A G intronic THOC1 NA NA NA intronic ENSG00000079134 NA NA NA NA NA 18p11.32 NA NA NA NA rs489947 0.15 0.15 0.156 0.172324 0.2147 0.006 0.1455 0.2262 0.2464 0.21 0.0017 0.16 0.22 0.1924 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.985669 NA NA 0.230211 0.220653 NA 0.08 NA 3.362689 1316 19 11411868 11411868 C A intronic TSPAN16 NA NA NA ncRNA_exonic ENSG00000267174 NA NA NA NA NA 19p13.2 NA NA NA NA rs420703 0.43 0.43 0.445 0.456869 0.2962 0.2788 0.3818 0.8449 0.3344 0.3 0.26 0.4 0.83 0.3637 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.298155 NA NA 0.310814 0.766909 NA 0.565 NA 3.3626193 1316 1 43773033 43773033 A G intronic TIE1 NA NA NA intronic ENSG00000066056 NA NA NA NA NA 1p34.2 NA NA NA NA rs2275180 0.75 0.75 0.749 0.80651 0.6382 0.87 0.6542 0.8986 0.8978 0.63 0.87 0.64 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.100038 NA NA NA NA NA 0.674 NA 3.3618 1316 9 140289696 140289696 A C intronic EXD3 NA NA NA intronic ENSG00000187609 NA NA NA NA NA 9q34.3 NA NA NA NA rs9695232 0.6 0.6 0.581 0.604433 0.6382 0.3621 0.4957 0.9644 0.41 0.61 0.35 0.52 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591632 NA NA NA NA NA 0.558 NA 3.3618 1316 22 39551989 39551989 G A intergenic CBX7,PDGFB dist=3451;dist=67696 NA NA downstream ENSG00000227009 NA NA NA NA NA 22q13.1 NA NA NA NA rs12169390 0.3 0.3 0.273 0.292133 0.1382 0.4395 0.4049 0.357 0.1309 0.14 0.42 0.36 0.36 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.862979 1.862979 NA NA NA NA 0.261 NA 3.3618 1316 1 240975213 240975213 T C intronic RGS7 NA NA NA intronic ENSG00000182901 NA NA NA Score=676;Name=lod=745 NA 1q43 NA NA NA NA rs2275742 0.43 0.43 0.428 0.404553 0.5557 0.4683 0.428 0.2148 0.4233 0.57 0.44 0.45 0.22 0.506 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809015 NA NA 0.576646 0.272356 ID=COSM146839;OCCURENCE=1(stomach) 0.471 NA 3.361654 1316 12 83525962 83525962 T C intronic TMTC2 NA NA NA intronic ENSG00000179104 NA NA NA NA NA 12q21.31 NA NA NA NA rs7970515 0.27 0.27 0.257 0.266573 0.2137 0.3284 0.3213 0.3139 0.1544 0.21 0.32 0.3 0.3 0.2261 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543876 NA NA 0.198605 0.29369 NA 0.239 NA 3.361595 1316 2 231328728 231328728 C T intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs2306276 0.19 0.19 0.19 0.194289 0.3221 0.0635 0.1772 0.1203 0.3098 0.31 0.06 0.2 0.15 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.405399 2.405399 NA 0.316782 0.148844 NA 0.138 NA 3.361118 1316 13 103289409 103289409 A G intronic TPP2 NA NA NA intronic ENSG00000134900 NA NA NA NA NA 13q33.1 NA NA NA NA rs9518799 0.14 0.14 0.121 0.139776 0.2058 0.1032 0.183 0.0182 0.2434 0.22 0.11 0.19 0.02 0.2118 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1348 NA NA 0.221395 0.049251 ID=COSN164545;OCCURENCE=1(NS) 0.101 NA 3.361005 1316 10 27412669 27412669 A T intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs2274743 0.34 0.34 0.269 0.340056 0.2247 0.5308 0.1844 0.3011 0.4254 0.23 0.6 0.19 0.3 0.2527 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.84362 NA NA 0.161614 0.268736 NA 0.239 NA 3.360986 1316 1 1562437 1562437 C G intronic MIB2 NA NA NA UTR3 ENSG00000197530 ENST00000506488:c.*2C>G NA NA NA NA 1p36.33 NA NA NA NA rs28510084 0.37 0.37 0.352 0.440495 0.2336 0.3145 0.4193 0.6838 0.4693 0.23 0.32 0.33 0.7 0.3586 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697949 NA NA 0.213494 0.594258 NA 0.123 NA 3.3609727 1316 15 97094597 97094597 C T intergenic NR2F2,SPATA8 dist=211105;dist=232082 NA NA upstream ENSG00000259340 NA NA NA NA NA 15q26.2 NA NA NA NA rs28736481 0.14 0.14 0.134 0.145567 0.1392 0.0853 0.098 0.2436 0.1155 0.13 0.09 0.12 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577393 NA NA NA NA NA 0.152 NA 3.3608 1316 16 4787987 4787987 G A intronic C16orf71 NA NA NA exonic ENSG00000166246 NA nonsynonymous SNV ENSG00000166246:ENST00000590191:exon3:c.G316A:p.D106N NA NA 16p13.3 NA NA NA NA rs859310 0.58 0.58 0.581 0.528155 0.6034 0.6806 0.5447 0.3775 0.4857 0.6 0.71 0.54 0.41 0.5884 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980675 NA NA 0.61407 0.444015 NA 0.514 NA 3.3607967 1316 1 34008297 34008297 A G intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA rs1000418 0.23 0.23 0.219 0.238618 0.1958 0.3423 0.245 0.1354 0.3108 0.2 0.32 0.2 0.18 0.2343 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812312 NA NA 0.209186 0.164775 NA 0.116 NA 3.360714 1316 5 41842746 41842746 T C intronic OXCT1 NA NA NA intronic ENSG00000083720 NA NA NA NA NA 5p13.1 NA NA NA NA rs13164201 0.14 0.14 0.109 0.133387 0.2505 NA 0.1643 0.1188 0.1483 0.24 NA 0.18 0.11 0.1823 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506922 NA NA 0.206744 0.141625 NA 0.188 NA 3.360456 1316 18 33048554 33048554 C T UTR3 INO80C NM_001098817:c.*21G>A,NM_194281:c.*21G>A NA NA UTR3 ENSG00000153391 ENST00000334598:c.*21G>A,ENST00000590757:c.*21G>A,ENST00000441607:c.*21G>A,ENST00000586489:c.*21G>A NA NA NA NA 18q12.2 NA NA NA NA rs3088182 0.25 0.25 0.223 0.23742 0.332 0.1369 0.3761 0.2171 0.1728 0.33 0.13 0.35 0.21 0.3062 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.226595 NA NA 0.335 0.218793 NA 0.261 NA 3.3601334 1316 1 227192579 227192579 A C intronic CDC42BPA NA NA NA UTR3 ENSG00000143776 ENST00000429440:c.*39T>G NA NA NA NA 1q42.13 NA NA NA NA rs2297418 0.3 0.3 0.303 0.267572 0.4433 0.1567 0.2824 0.267 0.1912 0.44 0.15 0.3 0.25 0.3633 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417491 NA NA NA NA NA 0.377 NA 3.3600667 1316 5 35955682 35955682 C G intronic UGT3A1 NA NA NA UTR3 ENSG00000145626 ENST00000515801:c.*2331G>C,ENST00000503189:c.*49G>C,ENST00000507113:c.*49G>C NA NA NA NA 5p13.2 NA NA NA NA rs768622 0.35 0.35 0.329 0.344249 0.4175 0.1181 0.3343 0.4803 0.3252 0.42 0.12 0.37 0.47 0.3891 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584822 NA NA NA NA NA 0.486 NA 3.3600667 1316 12 6635374 6635374 G A intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs10849483 0.11 0.11 0.09 0.107827 0.2107 0.0089 0.1354 0.0242 0.1973 0.21 0.01 0.18 0.04 0.1932 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136154 NA NA 0.236047 0.056514 NA 0.087 NA 3.360053 1316 7 142099968 142099968 C T intergenic LOC730441,MTRNR2L6 dist=127900;dist=274163 NA NA UTR5 ENSG00000229200 ENST00000390359:c.-30G>A NA NA NA NA 7q34 NA NA NA NA rs361367 0.2 0.2 0.168 0.238419 0.1461 0.0407 0.1873 0.4652 0.2669 0.13 0.06 0.21 0.46 0.1764 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713307 NA NA 0.151005 0.393805 NA 0.319 NA 3.3598284 1316 14 74989433 74989433 T C intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs699371 0.72 0.72 0.726 0.736422 0.6402 0.7827 0.6715 0.8306 0.7065 0.63 0.82 0.65 0.8 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610337 NA NA NA NA NA 0.754 NA 3.3598 1316 6 33650430 33650430 G C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296331 0.2 0.2 0.225 0.195487 0.2237 0.0685 0.2061 0.3154 0.1278 0.22 0.08 0.19 0.32 0.1981 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.153601 3.153601 NA 0.218459 0.264652 NA 0.167 NA 3.359741 1316 5 172324128 172324128 A T intronic ERGIC1 NA NA NA intronic ENSG00000113719 NA NA NA NA NA 5q35.1 NA NA NA NA rs13154777 0.26 0.26 0.262 0.257987 0.2167 0.2649 0.2017 0.3495 0.2096 0.23 0.25 0.21 0.34 0.2242 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277236 NA NA 0.199535 0.326827 NA 0.283 NA 3.359565 1316 8 133150103 133150103 C T intronic KCNQ3 NA NA NA intronic ENSG00000184156 NA NA NA NA NA 8q24.22 NA NA NA NA rs2469515 0.12 0.12 0.122 0.110423 0.2396 0.0119 0.1527 0.0567 0.1217 0.23 0.01 0.17 0.05 0.1698 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717822 NA NA 0.231163 0.080345 NA 0.196 NA 3.359437 1316 9 136205775 136205775 T C intergenic SURF6,MED22 dist=2728;dist=1980 NA NA UTR3 ENSG00000148297 ENST00000491289:c.*2580A>G NA NA NA NA 9q34.2 NA NA NA NA rs590858 0.53 0.53 0.54 0.513379 0.4742 0.6845 0.5288 0.4115 0.5041 0.47 0.71 0.54 0.42 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.075521 NA NA NA NA NA 0.58 NA 3.3591334 1316 20 33592248 33592248 C T intronic TRPC4AP NA NA NA intronic ENSG00000100991 NA NA NA NA NA 20q11.22 NA NA NA NA rs752448 0.17 0.17 0.185 0.174321 0.1938 0.1071 0.134 0.1657 0.2638 0.2 0.12 0.16 0.17 0.2488 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697029 NA NA 0.198372 0.181117 NA 0.275 NA 3.359028 1316 1 228437603 228437603 T C intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs6426494 0.67 0.67 0.638 0.663738 0.6412 0.6151 0.6873 0.854 0.4632 0.63 0.6 0.68 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736248 NA NA NA NA NA 0.674 NA 3.3588 1316 7 4214046 4214046 T C intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs600537 0.66 0.66 0.617 0.648962 0.6412 0.7649 0.6902 0.5257 0.6748 0.65 0.76 0.69 0.53 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003397 NA NA NA NA NA 0.623 NA 3.3588 1316 12 108086896 108086896 A C intronic PWP1 NA NA NA intronic ENSG00000136045 NA NA NA NA NA 12q23.3 NA NA NA NA rs2287215 0.27 0.27 0.234 0.230831 0.1928 0.498 0.2911 0.0159 0.2423 0.2 0.56 0.25 0.03 0.2464 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335486 NA NA 0.202093 0.044258 NA 0.181 NA 3.358707 1316 22 19486600 19486600 C T intronic CDC45 NA NA NA intronic ENSG00000093009 NA NA NA NA NA 22q11.21 NA NA NA NA rs9618586 0.39 0.39 0.399 0.402356 0.171 0.4365 0.3069 0.6936 0.2791 0.18 0.46 0.28 0.71 0.2723 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883767 NA NA 0.198023 0.625284 NA 0.348 NA 3.358677 1316 12 109671738 109671738 C A intronic ACACB NA NA NA intronic ENSG00000076555 NA NA NA NA NA 12q24.11 NA NA NA NA rs34708647 0.17 0.17 0.173 0.145168 0.2366 0.0109 0.147 0.2179 0.09 0.25 0.01 0.16 0.24 0.1844 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.586008 1.586008 NA 0.221047 0.194961 NA 0.203 NA 3.357953 1316 1 228434602 228434602 A T intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs1411915 0.67 0.67 0.656 0.664137 0.6421 0.6151 0.6888 0.854 0.4632 0.63 0.6 0.69 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817022 NA NA NA NA NA 0.674 NA 3.3579 1316 5 101811346 101811346 T C intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs4703232 0.59 0.59 0.573 0.579872 0.6421 0.4613 0.5317 0.6566 0.5685 0.64 0.5 0.57 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200352 NA NA NA NA NA 0.558 NA 3.3579 1316 6 31246542 31246542 G T intergenic HLA-C,HLA-B dist=6629;dist=75107 NA NA downstream ENSG00000214892 NA NA NA NA NA 6p21.33 NA NA NA NA rs113475966 0.15 0.15 0.12 0.168331 0.1421 0.0694 0.1974 0.2428 0.1759 0.13 0.1 0.2 0.21 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.756921 NA NA NA NA NA 0.08 NA 3.3579 1316 8 25287556 25287556 A G intronic KCTD9 NA NA NA intronic ENSG00000104756 NA NA NA NA NA 8p21.2 NA NA NA NA rs965130 0.55 0.55 0.508 0.525359 0.6421 0.6409 0.634 0.2625 0.5644 0.65 0.63 0.61 0.25 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724613 NA NA NA NA NA 0.63 NA 3.3579 1316 10 70945840 70945840 C T intronic SUPV3L1 NA NA NA intronic ENSG00000156502 NA NA NA NA NA 10q22.1 NA NA NA NA rs5030910 0.13 0.13 0.11 0.117412 0.2525 0.0367 0.1095 0.0946 0.0982 0.25 0.02 0.13 0.07 0.1776 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616494 NA NA 0.212209 0.105311 NA 0.196 NA 3.357691 1316 1 16096893 16096893 C T intronic FBLIM1 NA NA NA intronic ENSG00000162458 NA NA NA NA NA 1p36.21 NA NA NA NA rs12146078 0.14 0.14 0.123 0.193291 0.1968 0.0784 0.2161 0.0976 0.4213 0.19 0.09 0.17 0.1 0.2234 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389409 NA NA 0.222791 0.102587 NA 0.261 NA 3.357009 1316 8 28645271 28645271 C T intronic INTS9 NA NA NA intronic ENSG00000104299 NA NA NA NA NA 8p21.1 NA NA NA NA rs241187 0.44 0.44 0.404 0.383786 0.6431 0.1756 0.5548 0.2564 0.3824 0.64 0.19 0.6 0.32 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025773 NA NA NA NA NA 0.341 NA 3.3569 1316 22 44514809 44514809 C T intronic PARVB NA NA NA intronic ENSG00000188677 NA NA NA NA NA 22q13.31 NA NA NA NA rs5764541 0.74 0.74 0.759 0.750998 0.6431 0.7768 0.634 0.9539 0.6442 0.64 0.75 0.64 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357933 NA NA NA NA NA 0.797 NA 3.3569 1316 1 11141187 11141187 C G exonic EXOSC10 NA synonymous SNV EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P exonic ENSG00000171824 NA synonymous SNV ENSG00000171824:ENST00000304457:exon11:c.G1389C:p.P463P,ENSG00000171824:ENST00000376936:exon11:c.G1389C:p.P463P,ENSG00000171824:ENST00000544779:exon11:c.G1389C:p.P463P NA NA 1p36.22 NA NA NA NA rs2258621 0.71 0.71 0.754 0.772364 0.7694 0.9405 0.8415 0.5378 0.8701 0.71 0.87 0.79 0.48 0.779 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.321892 NA NA 0.761395 0.55833 NA 0.783 NA 3.3568716 1316 5 96112083 96112083 T G UTR3 ERAP1 NM_001198541:c.*17A>C,NM_001040458:c.*17A>C NA NA UTR3 ENSG00000164307 ENST00000443439:c.*17A>C NA NA NA NA 5q15 NA NA NA NA rs1065407 0.21 0.21 0.189 0.174121 0.3708 0.0694 0.2205 0.0787 0.1759 0.37 0.09 0.25 0.08 0.2631 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.706189 NA NA 0.342674 0.137767 NA 0.174 NA 3.3567594 1316 3 130881409 130881409 T C intronic NEK11 NA NA NA intronic ENSG00000114670 NA NA NA NA NA 3q22.1 NA NA Name=11 NA rs1913898 0.37 0.37 0.35 0.358626 0.5696 0.2917 0.438 0.0825 0.5276 0.56 0.3 0.46 0.11 0.4988 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238856 NA NA 0.575 0.165229 NA 0.428 NA 3.3566 1316 2 230841074 230841074 C T intronic FBXO36 NA NA NA intronic ENSG00000153832 NA NA NA NA NA 2q36.3 NA NA NA NA rs499449 0.26 0.26 0.269 0.283946 0.1809 0.4256 0.2046 0.2519 0.3436 0.18 0.42 0.19 0.23 0.2469 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.168183 2.168183 NA 0.215864 0.244893 NA 0.246 NA 3.356336 1316 6 24871021 24871021 C A intronic FAM65B NA NA NA intronic ENSG00000111913 NA NA NA NA NA 6p22.3 NA NA NA NA rs2817748 0.31 0.31 0.264 0.329473 0.328 0.256 0.3098 0.3487 0.3947 0.34 0.27 0.3 0.33 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.041933 NA NA 0.315839 0.343208 NA 0.275 NA 3.356161 1316 14 92084004 92084004 C G exonic CATSPERB NA synonymous SNV CATSPERB:NM_024764:exon20:c.G2337C:p.V779V exonic ENSG00000133962 NA synonymous SNV ENSG00000133962:ENST00000256343:exon20:c.G2337C:p.V779V NA NA 14q32.12 NA NA NA NA rs1620238 0.8 0.8 0.771 0.801118 0.7714 0.9752 0.8184 0.6309 0.8701 0.77 0.97 0.81 0.65 0.7916 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353233 NA NA 0.747558 0.645937 NA 0.732 NA 3.3561086 1316 1 169564130 169564130 T G intronic SELP NA NA NA intronic ENSG00000174175 NA NA NA NA NA 1q24.2 NA NA NA NA rs1569471 0.25 0.25 0.279 0.258187 0.2207 0.0129 0.1643 0.6679 0.0624 0.2 0.01 0.21 0.63 0.2014 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.270551 1.270551 NA 0.22186 0.57172 NA 0.333 NA 3.35604 1316 22 50278642 50278642 C T exonic ZBED4 NA synonymous SNV ZBED4:NM_014838:exon2:c.C1332T:p.G444G exonic ENSG00000100426 NA synonymous SNV ENSG00000100426:ENST00000216268:exon2:c.C1332T:p.G444G NA NA 22q13.33 NA NA NA NA rs910800 0.66 0.66 0.605 0.60024 0.7922 0.8244 0.8213 0.174 0.591 0.79 0.81 0.8 0.17 0.7318 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.40594 NA NA 0.786744 0.287789 NA 0.522 NA 3.3559226 1316 4 110786517 110786517 A G intronic LRIT3 NA NA NA intronic ENSG00000183423 NA NA NA NA NA 4q25 NA NA NA NA rs7679303 0.58 0.58 0.605 0.559904 0.6441 0.6329 0.4135 0.5257 0.5481 0.64 0.63 0.47 0.52 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458975 NA NA NA NA NA 0.5 NA 3.3559 1316 11 117375596 117375596 G A intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs2276343 0.2 0.2 0.172 0.209864 0.2127 0.2331 0.2089 0.1188 0.3067 0.2 0.26 0.19 0.12 0.2247 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95704 NA NA 0.206704 0.133576 NA 0.145 NA 3.355896 1316 19 58921296 58921296 A G intronic ZNF584 NA NA NA intronic ENSG00000171574 NA NA NA NA NA 19q13.43 NA NA NA NA rs34511020 0.16 0.16 0.161 0.151757 0.2485 0.0546 0.1772 0.1225 0.1738 0.23 0.06 0.19 0.15 0.1872 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.191366 3.191366 NA 0.208488 0.117567 NA 0.181 NA 3.355812 1316 19 42603776 42603776 A G intronic POU2F2 NA NA NA intronic ENSG00000028277 NA NA NA NA NA 19q13.2 NA NA NA NA rs1205817 0.34 0.34 0.362 0.415335 0.172 0.1865 0.2536 0.8548 0.4223 0.17 0.17 0.28 0.82 0.2747 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056826 NA NA 0.197558 0.744666 NA 0.377 NA 3.355742 1316 8 27668726 27668726 C T intronic PBK NA NA NA intronic ENSG00000168078,ENSG00000171320 NA NA NA NA NA 8p21.1 NA NA NA NA rs17479454 0.21 0.21 0.213 0.186102 0.3529 0.0228 0.3055 0.1082 0.2035 0.35 0.03 0.31 0.13 0.2916 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714796 NA NA NA NA NA 0.304 NA 3.3555 1316 10 70955056 70955056 A G intronic SUPV3L1 NA NA NA intronic ENSG00000156502 NA NA NA NA NA 10q22.1 NA NA NA NA rs5018859 0.13 0.13 0.117 0.117412 0.2525 0.0367 0.1095 0.0946 0.0982 0.25 0.02 0.13 0.07 0.1798 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418251 NA NA 0.212259 0.105765 NA 0.196 NA 3.355441 1316 11 107925557 107925557 T C intronic CUL5 NA NA NA intronic ENSG00000166266 NA NA NA NA NA 11q22.3 NA NA NA NA rs2271853 0.15 0.15 0.138 0.149561 0.2346 0.0565 0.1715 0.1589 0.1299 0.23 0.05 0.2 0.11 0.191 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.377017 2.377017 NA 0.218976 0.168333 NA 0.109 NA 3.355424 1316 10 70958327 70958327 C T intronic SUPV3L1 NA NA NA intronic ENSG00000156502 NA NA NA NA NA 10q22.1 NA NA NA NA rs5030911 0.14 0.14 0.14 0.124201 0.2525 0.0367 0.1124 0.1188 0.0982 0.25 0.02 0.14 0.11 0.1799 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129994 NA NA 0.212326 0.127099 NA 0.225 NA 3.355274 1316 12 132262911 132262911 A T intronic SFSWAP NA NA NA intronic ENSG00000061936 NA NA NA NA NA 12q24.33 NA NA NA NA rs75324057 0.12 0.12 0.099 0.0974441 0.2247 NA 0.2233 0.0061 0.1012 0.22 NA 0.26 0.01 0.1812 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680104 NA NA 0.238837 0.04335 NA 0.065 NA 3.355263 1316 1 203025209 203025209 G C intronic PPFIA4 NA NA NA intronic ENSG00000143847 NA NA NA NA NA 1q32.1 NA NA NA NA rs11590950 0.19 0.19 0.186 0.18151 0.2247 0.1052 0.1643 0.174 0.2382 0.23 0.11 0.18 0.22 0.2098 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576715 NA NA 0.210389 0.150363 NA 0.232 NA 3.355111 1317 1 55518528 55518528 C A intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs494198 0.66 0.66 0.645 0.629193 0.6451 0.8026 0.7695 0.4766 0.5409 0.63 0.79 0.73 0.51 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072094 NA NA NA NA NA 0.572 NA 3.3549 1317 1 193205272 193205272 T A intronic CDC73 NA NA NA intronic ENSG00000134371 NA NA NA NA NA 1q31.2 NA NA NA NA rs3738244 0.6 0.6 0.616 0.648363 0.6451 0.4484 0.647 0.6861 0.8078 0.64 0.44 0.66 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826986 NA NA NA NA NA 0.572 NA 3.3549 1317 6 27424960 27424960 G C intronic ZNF184 NA NA NA intronic ENSG00000096654 NA NA NA NA NA 6p22.1 NA NA NA NA rs10484398 0.59 0.59 0.591 0.618211 0.6451 0.5774 0.6715 0.531 0.7127 0.64 0.55 0.65 0.51 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371637 NA NA NA NA NA 0.58 NA 3.3549 1317 7 75613998 75613998 C T intronic POR NA NA NA intronic ENSG00000127948 NA NA NA NA NA 7q11.23 NA NA NA NA rs4732514 0.51 0.51 0.514 0.504792 0.6451 0.4583 0.6124 0.3654 0.5204 0.64 0.44 0.59 0.34 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508019 NA NA NA NA NA 0.413 NA 3.3549 1317 17 67080770 67080770 A G intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.2 NA NA NA NA rs11657954 0.56 0.56 0.559 0.606629 0.6451 0.3194 0.6095 0.8003 0.5992 0.64 0.26 0.58 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251639 NA NA NA NA NA 0.536 NA 3.3549 1317 20 20007325 20007325 T G intronic NAA20 NA NA NA intronic ENSG00000173418 NA NA NA NA NA 20p11.23 NA NA NA NA rs200177 0.77 0.77 0.773 0.759185 0.6451 0.872 0.7824 0.8351 0.6411 0.66 0.86 0.77 0.82 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436397 NA NA NA NA NA 0.732 NA 3.3549 1317 7 97922773 97922773 T C UTR3 BAIAP2L1 NM_018842:c.*60A>G NA NA UTR3 ENSG00000006453 ENST00000005260:c.*60A>G NA NA NA NA 7q21.3 NA NA NA NA rs12873 0.35 0.35 0.329 0.28734 0.4801 0.2688 0.3516 0.2163 0.1585 0.48 0.24 0.38 0.24 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587206 NA NA 0.498429 0.261561 NA 0.261 NA 3.3548044 1317 19 51499116 51499116 A G downstream KLK8 NA NA NA ncRNA_intronic ENSG00000267879 NA NA NA NA NA 19q13.41 NA NA NA NA rs1654542 0.4 0.4 0.369 0.386382 0.4066 0.2391 0.4424 0.534 0.2781 0.41 0.26 0.45 0.49 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112157 NA NA 0.405405 0.544075 NA 0.493 NA 3.3546616 1317 7 101713567 101713567 T C intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA Name=CTCF NA NA rs377587 0.87 0.87 0.873 0.879393 0.8241 0.9911 0.8559 0.8411 0.8896 0.82 0.99 0.83 0.82 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017603 NA NA 0.821329 0.83514 NA 0.899 NA 3.354571 1317 20 30385192 30385192 C T intronic TPX2 NA NA NA intronic ENSG00000088325 NA NA NA NA NA 20q11.21 NA NA NA NA rs6058463 0.23 0.23 0.228 0.223442 0.2326 NA 0.1599 0.5446 0.0552 0.24 NA 0.17 0.52 0.2025 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.106322 3.106322 NA 0.210698 0.463232 NA 0.217 NA 3.354202 1317 19 51499195 51499195 T C downstream KLK8 NA NA NA ncRNA_intronic ENSG00000267879 NA NA NA NA NA 19q13.41 NA NA NA NA rs1612902 0.4 0.4 0.374 0.386781 0.4066 0.2391 0.4438 0.5348 0.2781 0.41 0.26 0.45 0.49 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274749 NA NA 0.406034 0.544075 NA 0.493 NA 3.3540326 1317 9 35943177 35943177 G A intergenic LOC158376,OR2S2 dist=31560;dist=13928 NA NA downstream ENSG00000225639 NA NA NA NA NA 9p13.3 NA NA NA NA rs72729427 0.07 0.07 0.058 0.0509185 0.1461 0.002 0.0749 0.0083 0.044 0.16 NA 0.09 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.078146 NA NA NA NA NA 0.036 NA 3.3539 1317 11 553866 553866 G A intronic LRRC56 NA NA NA intronic ENSG00000161328 NA NA NA NA NA 11p15.5 NA NA NA NA rs12792519 0.64 0.64 0.624 0.631789 0.6461 0.8264 0.621 0.4599 0.6564 0.66 0.81 0.57 0.45 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017158 NA NA NA NA NA 0.58 NA 3.3539 1317 11 86736891 86736891 T G intergenic LOC100506368,TMEM135 dist=24902;dist=11995 NA NA downstream ENSG00000254748 NA NA NA NA NA 11q14.2 NA NA NA NA rs41376049 0.16 0.16 0.155 0.157348 0.1461 0.1468 0.1182 0.1921 0.1605 0.15 0.15 0.13 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.549733 1.549733 NA NA NA NA 0.109 NA 3.3539 1317 17 8411812 8411812 C T intronic MYH10 NA NA NA intronic ENSG00000133026 NA NA NA NA NA 17p13.1 NA NA NA NA rs11658073 0.52 0.52 0.482 0.480631 0.6461 0.496 0.5389 0.2716 0.5358 0.64 0.51 0.6 0.27 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539104 NA NA NA NA NA 0.486 NA 3.3539 1317 16 88766168 88766168 C T intronic RNF166 NA NA NA UTR5 ENSG00000158717 ENST00000568683:c.-43G>A NA NA NA NA 16q24.3 NA NA NA NA rs55780854 0.26 0.26 0.251 0.229633 0.2505 0.3611 0.2781 0.1876 0.0951 0.25 0.37 0.29 0.14 0.2787 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24882 NA NA 0.283985 0.182648 NA 0.159 NA 3.3534817 1317 11 7818518 7818518 C T upstream OR5P2 NA NA NA ncRNA_UTR5 ENSG00000183303 NA NA NA NA NA 11p15.4 NA NA NA NA rs73406611 0.27 0.27 0.266 0.236621 0.2763 0.128 0.2911 0.348 0.1186 0.29 0.15 0.28 0.37 0.2605 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223716 NA NA 0.276598 0.31705 NA 0.254 NA 3.3532686 1317 22 23090438 23090438 A G intergenic GGTLC2,MIR650 dist=100070;dist=74832 NA NA downstream ENSG00000211665 NA NA NA Score=393;Name=lod=53 NA 22q11.22 NA NA NA NA rs56223989 0.43 0.43 0.255 0.595647 0.6173 0.6399 0.6484 0.4758 0.6524 0.47 0.48 0.42 0.3 0.5297 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493457 NA NA NA NA NA 0.449 NA 3.353 1317 12 9222286 9222286 C T intronic A2M NA NA NA intronic ENSG00000175899 NA NA NA NA NA 12p13.31 NA NA NA NA rs1805664 0.24 0.24 0.215 0.213658 0.3161 0.0804 0.3804 0.1861 0.1646 0.33 0.07 0.38 0.19 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878813 NA NA 0.330924 0.189306 ID=COSN164144;OCCURENCE=1(breast) 0.268 NA 3.352976 1317 4 73316592 73316592 C T intronic ADAMTS3 NA NA NA intronic ENSG00000156140 NA NA NA NA NA 4q13.3 NA NA NA NA rs3907271 0.62 0.62 0.573 0.67512 0.6471 0.5694 0.7983 0.6127 0.8098 0.63 0.54 0.76 0.59 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.063062 NA NA NA NA NA 0.674 NA 3.3529 1317 5 6611757 6611757 A T intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs10454287 0.58 0.58 0.533 0.540735 0.6471 0.6667 0.5778 0.3457 0.5389 0.64 0.67 0.62 0.36 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182417 NA NA NA NA NA 0.572 NA 3.3529 1317 9 82972980 82972980 A G intergenic TLE4,TLE1 dist=631324;dist=1225618 NA NA ncRNA_exonic ENSG00000236521 NA NA NA NA NA 9q21.31 NA NA NA NA rs1857470 0.78 0.78 0.768 0.765176 0.6471 0.9653 0.7709 0.7269 0.728 0.66 0.98 0.75 0.74 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037782 NA NA NA NA NA 0.688 NA 3.3529 1317 10 412449 412449 A G intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs1133113 0.42 0.42 0.404 0.371805 0.6471 0.3234 0.4553 0.1717 0.3497 0.64 0.32 0.47 0.18 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923209 NA NA NA NA NA 0.529 NA 3.3529 1317 12 132326051 132326051 C T intronic MMP17 NA NA NA intronic ENSG00000198598 NA NA NA NA NA 12q24.33 NA NA NA NA rs4964929 0.66 0.66 0.668 0.709465 0.6471 0.6885 0.6066 0.7731 0.7822 0.65 0.65 0.57 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.0848 NA NA NA NA NA 0.754 NA 3.3529 1317 13 41807950 41807950 T C intronic MTRF1 NA NA NA intronic ENSG00000120662 NA NA NA NA NA 13q14.11 NA NA NA NA rs3751344 0.62 0.62 0.587 0.617412 0.6471 0.5526 0.6931 0.5847 0.6442 0.65 0.55 0.71 0.59 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368454 NA NA NA NA NA 0.703 NA 3.3529 1317 13 41814277 41814277 C T intronic MTRF1 NA NA NA intronic ENSG00000120662 NA NA NA NA NA 13q14.11 NA NA NA NA rs9566727 0.59 0.59 0.519 0.581669 0.6471 0.5526 0.6859 0.4531 0.6442 0.65 0.55 0.7 0.47 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029014 NA NA NA NA NA 0.58 NA 3.3529 1317 13 53036398 53036398 A G intronic CKAP2 NA NA NA intronic ENSG00000136108 NA NA NA NA NA 13q14.3 NA NA NA NA rs3803262 0.57 0.57 0.543 0.537939 0.6471 0.6389 0.611 0.3381 0.5399 0.63 0.63 0.6 0.38 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.119599 NA NA NA NA NA 0.536 NA 3.3529 1317 17 39680935 39680935 A G intronic KRT19 NA NA NA intronic ENSG00000171345 NA NA NA NA NA 17q21.2 NA NA NA NA rs4796780 0.72 0.72 0.685 0.732029 0.6471 0.9137 0.7853 0.5915 0.7843 0.63 0.93 0.74 0.59 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139174 NA NA NA NA NA 0.754 NA 3.3529 1317 6 32818678 32818678 G A intronic TAP1 NA NA NA intronic ENSG00000168394,ENSG00000240065 NA NA NA NA NA 6p21.32 NA NA NA NA rs2071538 0.13 0.13 0.113 0.101837 0.2326 0.0546 0.1383 0.0061 0.1196 0.24 0.09 0.13 0.02 0.1806 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653644 NA NA 0.234306 0.050993 NA 0.072 NA 3.352494 1317 17 4455166 4455166 A G intronic MYBBP1A NA NA NA intronic ENSG00000132382 NA NA NA NA NA 17p13.2 NA NA NA NA rs3816686 0.29 0.29 0.266 0.291933 0.1998 0.5605 0.3314 0.1021 0.3384 0.2 0.56 0.28 0.12 0.2465 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29112 NA NA 0.201512 0.13238 NA 0.167 NA 3.352188 1317 17 76129636 76129636 T C intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA NA NA NA rs417780 0.28 0.28 0.247 0.30012 0.2167 0.252 0.2219 0.4561 0.2802 0.2 0.22 0.23 0.48 0.2316 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.986442 NA NA 0.199767 0.404675 NA 0.283 NA 3.351933 1317 9 130940822 130940822 C T intronic CIZ1 NA NA NA intronic ENSG00000148337 NA NA NA NA NA 9q34.11 NA NA NA NA rs3892074 0.71 0.71 0.661 0.6873 0.6481 0.9435 0.7579 0.4228 0.771 0.67 0.96 0.75 0.43 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470142 NA NA NA NA NA 0.739 NA 3.3519 1317 14 106188045 106188045 C T intergenic ELK2AP,KIAA0125 dist=48901;dist=195793 NA NA ncRNA_intronic ENSG00000253692 NA NA NA NA NA 14q32.33 NA NA NA NA rs11624491 0.47 0.47 0.477 0.487021 0.6481 0.5635 0.4135 0.3691 0.454 0.61 0.38 0.43 0.41 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716848 NA NA NA NA NA 0.522 NA 3.3519 1317 1 212526288 212526288 C T ncRNA_exonic SNORA16B NA NA NA ncRNA_exonic ENSG00000201544 NA NA NA NA NA 1q32.3 NA NA Name=3 NA rs792442 0.81 0.81 0.802 0.802915 0.7535 0.7768 0.7997 0.9508 0.683 0.75 0.78 0.8 0.93 0.779 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764217 NA NA 0.78227 0.928082 NA 0.804 NA 3.3518966 1317 16 3097568 3097568 C A intronic MMP25 NA NA NA intronic ENSG00000008516 NA NA NA NA NA 16p13.3 NA NA NA NA rs3743937 0.14 0.14 0.099 0.151358 0.2227 0.1329 0.1628 0.0424 0.2362 0.21 0.11 0.17 0.04 0.2147 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143418 NA NA 0.210777 0.065544 NA 0.181 NA 3.351823 1317 19 8148301 8148301 G A intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs17202517 0.15 0.15 0.148 0.114816 0.2276 0.1111 0.121 0.0166 0.1309 0.24 0.13 0.14 0.02 0.1923 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651446 NA NA 0.228372 0.047435 NA 0.188 NA 3.351728 1317 2 131116404 131116404 T C intronic PTPN18 NA NA NA intronic ENSG00000072135 NA NA NA NA NA 2q21.1 NA NA NA NA rs7568956 0.33 0.33 0.324 0.349441 0.2048 0.3185 0.2421 0.6536 0.1953 0.2 0.31 0.25 0.6 0.2361 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555588 NA NA 0.207442 0.58148 NA 0.297 NA 3.351658 1317 11 118959331 118959331 G A intronic HMBS NA NA NA intronic ENSG00000256269 NA NA NA NA NA 11q23.3 NA NA Name=2 NA rs17075 0.54 0.54 0.574 0.572883 0.5268 0.3185 0.7017 0.7912 0.4959 0.53 0.29 0.67 0.77 0.5581 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5087 1.5087 NA 0.563446 0.745682 NA 0.609 NA 3.351654 1317 19 56511217 56511217 G A intronic NLRP5 NA NA NA intronic ENSG00000171487 NA NA NA NA NA 19q13.43 NA NA NA NA rs12462690 0.25 0.25 0.212 0.257987 0.326 0.1022 0.3876 0.1921 0.3456 0.33 0.1 0.4 0.21 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5114 NA NA 0.322439 0.229769 NA 0.225 NA 3.351561 1317 5 43161317 43161317 T C intronic ZNF131 NA NA NA intronic ENSG00000172262 NA NA NA NA NA 5p12 NA NA NA NA rs55714804 0.14 0.14 0.105 0.125399 0.2187 0.005 0.2824 0.0688 0.1186 0.22 0.0035 0.28 0.07 0.1987 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.888787 NA NA 0.231245 0.079921 NA 0.152 NA 3.351355 1317 6 66803535 66803535 C A intergenic SLC25A51P1,NONE dist=304159;dist=NONE NA NA ncRNA_exonic ENSG00000218890 NA NA NA NA NA 6q12 NA NA NA NA rs2881644 0.68 0.68 0.674 0.673522 0.6491 0.6458 0.6499 0.7753 0.6063 0.64 0.64 0.68 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551473 NA NA NA NA NA 0.739 NA 3.3509 1317 19 55447572 55447572 A G intronic NLRP7 NA NA NA intronic ENSG00000167634 NA NA NA NA NA 19q13.42 NA NA NA NA rs775876 0.68 0.68 0.695 0.671326 0.6491 0.5446 0.5793 0.9448 0.5204 0.65 0.58 0.6 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688688 NA NA NA NA NA 0.717 NA 3.3509 1317 8 100994389 100994389 C T intronic RGS22 NA NA NA intronic ENSG00000132554 NA NA NA NA NA 8q22.2 NA NA NA NA rs6468704 0.35 0.35 0.375 0.372604 0.2087 0.1726 0.2075 0.8548 0.2127 0.21 0.21 0.2 0.83 0.2474 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286835 NA NA 0.19384 0.728291 NA 0.428 NA 3.35006 1317 6 111695073 111695073 C T exonic REV3L NA synonymous SNV REV3L:NM_002912:exon13:c.G4485A:p.S1495S exonic ENSG00000009413 NA synonymous SNV ENSG00000009413:ENST00000368802:exon13:c.G4485A:p.S1495S,ENSG00000009413:ENST00000358835:exon14:c.G4485A:p.S1495S,ENSG00000009413:ENST00000368805:exon14:c.G4485A:p.S1495S,ENSG00000009413:ENST00000435970:exon15:c.G4251A:p.S1417S NA NA 6q21 NA NA NA NA rs455645 0.59 0.59 0.569 0.586462 0.7883 0.4534 0.7435 0.3654 0.7035 0.78 0.47 0.72 0.35 0.7159 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784571 NA NA 0.812442 0.439855 NA 0.572 NA 3.3500246 1317 3 75397679 75397679 G A intergenic MIR4444-1,FAM86DP dist=133980;dist=73024 NA NA ncRNA_exonic ENSG00000243674 NA NA NA NA NA 3p12.3 NA NA NA NA rs3860597 0.58 0.58 0.57 0.534145 0.6501 0.7232 0.7147 0.171 0.5828 0.65 0.75 0.69 0.2 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817364 NA NA NA NA NA 0.514 NA 3.3499 1317 4 9698240 9698240 G A intergenic MIR548I2,DRD5 dist=140303;dist=85018 NA NA ncRNA_intronic ENSG00000186234 NA NA NA NA NA 4p16.1 NA NA NA NA rs13141264 0.47 0.47 0.408 0.452875 0.6501 0.4554 0.4942 0.2723 0.4622 0.63 0.42 0.54 0.22 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661303 NA NA NA NA NA 0.181 NA 3.3499 1317 19 55209313 55209313 G C intergenic LILRB4,LILRP2 dist=29467;dist=10288 NA NA ncRNA_intronic ENSG00000186152 NA NA NA NA NA 19q13.42 NA NA NA NA rs4806810 0.81 0.81 0.8 0.688099 0.6501 0.8522 0.6844 0.615 0.6595 0.72 0.98 0.77 0.77 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.077952 NA NA NA NA NA 0.79 NA 3.3499 1317 22 36708338 36708338 A G intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA NA NA rs2157257 0.44 0.44 0.366 0.38119 0.6501 0.2073 0.6599 0.1725 0.3681 0.65 0.23 0.65 0.23 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946977 NA NA NA NA NA 0.442 NA 3.3499 1317 1 75609049 75609049 A C intronic LHX8 NA NA NA intronic ENSG00000162624 NA NA NA NA NA 1p31.1 NA NA NA NA rs12041465 0.35 0.35 0.327 0.322484 0.171 0.7956 0.3343 0.0968 0.2873 0.17 0.83 0.31 0.1 0.2856 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136582 NA NA 0.193623 0.112324 NA 0.384 NA 3.349777 1317 20 44259673 44259673 G T UTR3 WFDC10A NM_080753:c.*16G>T NA NA UTR3 ENSG00000180305 ENST00000372643:c.*16G>T NA NA NA NA 20q13.12 NA NA NA NA rs1487322 0.37 0.37 0.377 0.372604 0.3231 0.4266 0.2565 0.3903 0.4264 0.31 0.43 0.29 0.45 0.3389 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355759 NA NA 0.321744 0.376305 ID=COSN166538;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.283 NA 3.3495894 1317 22 41919330 41919330 A G intronic ACO2 NA NA NA intronic ENSG00000100412 NA NA NA NA NA 22q13.2 NA NA NA NA rs12484694 0.18 0.18 0.137 0.204273 0.2147 0.0556 0.4366 0.0862 0.3415 0.21 0.06 0.45 0.09 0.2363 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644491 NA NA 0.199419 0.092828 NA 0.239 NA 3.349581 1317 1 157517127 157517127 C T intronic FCRL5 NA NA NA intronic ENSG00000143297 NA NA NA NA NA 1q23.1 NA NA NA NA rs7531685 0.2 0.2 0.184 0.182308 0.2386 0.0794 0.1671 0.2345 0.1708 0.25 0.08 0.19 0.25 0.2033 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147092 NA NA 0.208689 0.228881 NA 0.203 NA 3.349411 1317 19 8137902 8137902 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA Name=Max NA NA rs7254691 0.6 0.6 0.599 0.575479 0.5586 0.3333 0.6455 0.8964 0.3589 0.57 0.37 0.64 0.87 0.5526 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028537 NA NA 0.539651 0.844984 NA 0.616 NA 3.349149 1317 6 89650922 89650922 C A intronic RNGTT NA NA NA intronic ENSG00000111880 NA NA NA NA NA 6q15 NA NA NA NA rs9451108 0.29 0.29 0.312 0.328474 0.2097 0.1647 0.1585 0.671 0.2771 0.21 0.17 0.2 0.64 0.2354 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42903 NA NA 0.20593 0.57172 ID=COSN167850;OCCURENCE=1(large_intestine) 0.457 NA 3.34897 1317 11 71527896 71527896 G A intergenic ALG1L9P,DEFB108B dist=2991;dist=16350 NA NA ncRNA_exonic ENSG00000214534 NA NA NA NA NA 11q13.4 NA NA NA NA rs56524498 0.41 0.41 0.448 0.484225 0.6511 0.4534 0.4308 0.2844 0.6524 0.52 0.4 0.41 0.24 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.049687 NA 0 NA NA NA 0.014 NA 3.3489 1317 11 71529119 71529119 A G intergenic ALG1L9P,DEFB108B dist=4214;dist=15127 NA NA ncRNA_intronic ENSG00000214534 NA NA NA NA NA 11q13.4 NA NA NA NA rs3819230 NA NA 0.43 0.485423 0.6511 0.4444 0.4308 0.295 0.6534 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.977669 NA NA NA NA NA 0.007 NA 3.3489 1317 11 71529252 71529252 T A intergenic ALG1L9P,DEFB108B dist=4347;dist=14994 NA NA ncRNA_exonic ENSG00000214534 NA NA NA NA NA 11q13.4 NA NA NA NA rs3819237 0.48 0.48 0.451 0.481629 0.6511 0.4415 0.4308 0.2837 0.6524 0.64 0.43 0.47 0.31 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193392 NA 0.55 NA NA NA 0.109 NA 3.3489 1317 12 62892905 62892905 C G intronic MON2 NA NA NA intronic ENSG00000061987 NA NA NA NA NA 12q14.1 NA NA NA NA rs4025987 0.68 0.68 0.675 0.684704 0.6511 0.623 0.6671 0.7874 0.6564 0.65 0.65 0.7 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.144578 NA NA NA NA NA 0.652 NA 3.3489 1317 15 85721912 85721912 A G intergenic PDE8A,LOC642423 dist=39536;dist=25995 NA NA ncRNA_exonic ENSG00000259270 NA NA NA NA NA 15q25.3 NA NA NA NA rs3964197 0.77 0.77 0.755 0.786741 0.6511 0.9623 0.7781 0.73 0.8282 0.66 0.97 0.73 0.74 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437673 NA NA NA NA NA 0.761 NA 3.3489 1317 19 34687746 34687746 C A intronic LSM14A NA NA NA intronic ENSG00000257103 NA NA NA NA NA 19q13.11 NA NA NA NA rs3119815 0.53 0.53 0.539 0.52516 0.6511 0.1597 0.5504 0.7844 0.4039 0.65 0.16 0.56 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094384 NA NA NA NA NA 0.514 NA 3.3489 1317 17 38955274 38955274 A C intronic KRT28 NA NA NA intronic ENSG00000173908 NA NA NA NA NA 17q21.2 NA NA NA NA rs7224150 0.14 0.14 0.119 0.131989 0.2306 0.0377 0.1801 0.0711 0.1759 0.24 0.03 0.19 0.07 0.1936 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065341 NA NA 0.226913 0.10168 NA 0.101 NA 3.348887 1317 6 153296772 153296772 A G intronic FBXO5 NA NA NA intronic ENSG00000112029 NA NA NA NA NA 6q25.2 NA NA NA NA rs9479472 0.14 0.14 0.159 0.113618 0.2425 0.0724 0.1138 0.0598 0.0961 0.24 0.08 0.15 0.06 0.189 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.591647 NA NA 0.220103 0.089893 NA 0.109 NA 3.348397 1317 22 50942761 50942761 A G intronic LMF2 NA NA NA intronic ENSG00000100258 NA NA NA NA NA 22q13.33 NA NA NA NA rs60021445 0.16 0.16 0.126 0.142173 0.2316 0.0397 0.1412 0.1626 0.1288 0.23 0.03 0.17 0.18 0.1896 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.87412 NA NA 0.230465 0.16121 NA NA NA 3.348335 1317 1 2420913 2420913 A G intronic PLCH2 NA NA NA intronic ENSG00000149527 NA NA NA NA NA 1p36.32 NA NA NA NA rs6668720 0.67 0.67 0.654 0.673922 0.6521 0.7907 0.6729 0.5983 0.6789 0.64 0.78 0.67 0.6 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13023 NA NA NA NA NA 0.507 NA 3.3479 1317 1 32160918 32160918 A G intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs6656079 0.59 0.59 0.586 0.58746 0.6521 0.3611 0.6686 0.8139 0.3906 0.64 0.32 0.63 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120526 NA NA NA NA NA 0.616 NA 3.3479 1317 1 155931368 155931368 G A intronic ARHGEF2 NA NA NA intronic ENSG00000116584 NA NA NA NA NA 1q22 NA NA NA NA rs4661175 0.39 0.39 0.39 0.398562 0.6521 0.1577 0.6009 0.1551 0.5716 0.65 0.14 0.57 0.15 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51467 NA NA NA NA NA 0.348 NA 3.3479 1317 4 17581617 17581617 T A intronic LAP3 NA NA NA intronic ENSG00000002549 NA NA NA NA NA 4p15.32 NA NA NA NA rs10939736 0.67 0.67 0.614 0.634385 0.6521 0.8542 0.719 0.4735 0.547 0.66 0.86 0.69 0.46 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341779 NA NA NA NA NA 0.696 NA 3.3479 1317 4 17585014 17585014 G C intronic LAP3 NA NA NA intronic ENSG00000002549 NA NA NA NA NA 4p15.32 NA NA NA NA rs1476836 0.67 0.67 0.657 0.634585 0.6521 0.8542 0.719 0.4743 0.547 0.65 0.86 0.69 0.46 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.447903 1.447903 NA NA NA NA 0.696 NA 3.3479 1317 5 101755430 101755430 T C intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs1542296 0.6 0.6 0.574 0.582468 0.6521 0.4593 0.5331 0.6589 0.5695 0.65 0.5 0.57 0.64 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365625 NA NA NA NA NA 0.551 NA 3.3479 1317 6 35424188 35424188 A G intronic FANCE NA NA NA intronic ENSG00000112039 NA NA NA NA NA 6p21.31 NA NA NA NA rs3800377 0.7 0.7 0.687 0.71905 0.6521 0.5446 0.7839 0.8843 0.6984 0.65 0.56 0.79 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971819 NA NA NA NA NA 0.674 NA 3.3479 1317 14 39764007 39764007 C G intronic CTAGE5 NA NA NA intronic ENSG00000150527,ENSG00000258941 NA NA NA NA NA 14q21.1 NA NA NA NA rs12432397 0.51 0.51 0.525 0.491214 0.6521 0.4246 0.5548 0.2655 0.6544 0.66 0.45 0.59 0.31 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111877 NA NA NA NA NA 0.572 NA 3.3479 1317 16 50759547 50759547 A T intronic NOD2 NA NA NA intronic ENSG00000167207 NA NA NA NA NA 16q12.1 NA NA NA NA rs1077861 0.39 0.39 0.388 0.334864 0.6521 0.1498 0.4323 0.2141 0.2935 0.66 0.17 0.4 0.22 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758806 NA NA NA NA NA 0.471 NA 3.3479 1317 1 151039609 151039609 A G intronic MLLT11 NA NA NA UTR5 ENSG00000197622 ENST00000439374:c.-11403T>C NA NA NA NA 1q21.3 NA NA NA NA rs3738481 0.85 0.85 0.848 0.846845 0.8191 0.9048 0.8242 0.8411 0.8395 0.82 0.91 0.83 0.85 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.194932 NA NA NA NA NA 0.841 NA 3.3475667 1317 12 21661508 21661508 A G intronic GOLT1B NA NA NA intronic ENSG00000111711 NA NA NA NA NA 12p12.1 NA NA NA NA rs11046091 0.22 0.22 0.237 0.229233 0.2167 0.0079 0.196 0.5393 0.0746 0.2 0.0035 0.2 0.51 0.2063 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48677 NA NA 0.229569 0.463686 NA 0.399 NA 3.347431 1317 11 71529136 71529136 T C intergenic ALG1L9P,DEFB108B dist=4231;dist=15110 NA NA ncRNA_intronic ENSG00000214534 NA NA NA NA NA 11q13.4 NA NA NA NA rs3819231 0.5 0.5 0.38 0.497204 0.6531 0.4563 0.4366 0.3253 0.6544 0.65 0.45 0.47 0.36 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.794717 NA NA NA NA NA 0.014 NA 3.3469 1317 3 45813025 45813025 A G intronic SLC6A20 NA NA NA intronic ENSG00000163817 NA NA NA NA NA 3p21.31 NA NA NA NA rs758387 0.45 0.45 0.428 0.428514 0.6531 0.3929 0.5014 0.1747 0.5256 0.67 0.34 0.52 0.19 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011208 NA NA NA NA NA 0.399 NA 3.3469 1317 5 101726851 101726851 A G intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs1452065 0.6 0.6 0.577 0.585463 0.6531 0.4613 0.5331 0.6672 0.5706 0.65 0.5 0.57 0.65 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190742 NA NA NA NA NA 0.565 NA 3.3469 1317 10 5936425 5936425 C G UTR5 FBXO18 NM_032807:c.-28C>G NA NA UTR5 ENSG00000134452 ENST00000379999:c.-28C>G NA NA NA NA 10p15.1 NA NA NA NA rs12781700 0.26 0.26 0.27 0.216054 0.3559 0.0317 0.2205 0.3162 0.1237 0.37 0.02 0.29 0.33 0.2786 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636128 NA NA 0.352209 0.300045 NA 0.283 NA 3.3466244 1317 22 23089996 23089996 T C intergenic GGTLC2,MIR650 dist=99628;dist=75274 NA NA intronic ENSG00000211665 NA NA NA NA NA 22q11.22 NA Name=Pol2 NA NA rs2040566 0.72 0.72 0.699 0.713259 0.6292 0.8641 0.7464 0.6687 0.681 0.63 0.88 0.72 0.67 0.6911 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155773 NA NA NA NA NA 0.565 NA 3.3463667 1317 14 75002607 75002607 G T intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs3742794 0.26 0.26 0.282 0.238618 0.2157 0.1944 0.3098 0.3457 0.1125 0.24 0.23 0.25 0.33 0.22 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201691 NA NA 0.218372 0.335225 NA 0.254 NA 3.345928 1317 1 32163950 32163950 G C intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297674 0.53 0.53 0.512 0.559105 0.6541 0.3056 0.6383 0.6097 0.5982 0.65 0.27 0.59 0.61 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.834166 1.834166 NA NA NA NA 0.58 NA 3.3459 1317 5 150072693 150072693 A G intronic RBM22 NA NA NA intronic ENSG00000086589 NA NA NA NA NA 5q33.1 NA NA NA NA rs33410 0.84 0.84 0.853 0.860623 0.6541 0.998 0.745 0.9909 0.8374 0.66 1 0.75 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505167 NA NA NA NA NA 0.739 NA 3.3459 1317 7 142104667 142104667 C G intergenic LOC730441,MTRNR2L6 dist=132599;dist=269464 NA NA upstream ENSG00000211732 NA NA NA NA NA 7q34 NA NA NA NA rs361430 0.25 0.25 NA 0.309305 0.1541 0.1121 0.2277 0.6437 0.2781 0.13 0.11 0.27 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.16953 NA NA NA NA NA 0.377 NA 3.3459 1317 11 7091772 7091772 C A intronic NLRP14 NA NA NA intronic ENSG00000158077 NA NA NA NA NA 11p15.4 NA NA NA NA rs10769763 0.69 0.69 0.691 0.714257 0.6541 0.9157 0.67 0.5151 0.8691 0.66 0.91 0.66 0.52 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169384 NA NA NA NA NA 0.551 NA 3.3459 1317 12 111296332 111296332 T C intronic CCDC63 NA NA NA intronic ENSG00000173093 NA NA NA NA NA 12q24.11 NA NA NA NA rs4766432 0.6 0.6 0.545 0.58726 0.6541 0.6468 0.7032 0.3933 0.637 0.65 0.66 0.65 0.4 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596719 NA NA NA NA NA 0.616 NA 3.3459 1317 16 19051520 19051520 A G intronic TMC7 NA NA NA intronic ENSG00000170537 NA NA NA NA NA 16p12.3 NA NA NA NA rs11074355 0.61 0.61 0.575 0.601837 0.6541 0.7798 0.6369 0.3623 0.6636 0.64 0.78 0.65 0.33 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108595 NA NA NA NA NA 0.638 NA 3.3459 1317 22 26899474 26899474 T C intronic TFIP11 NA NA NA intronic ENSG00000100109 NA NA NA NA NA 22q12.1 NA NA NA NA rs134136 0.66 0.66 0.664 0.653954 0.6541 0.6746 0.6484 0.7489 0.5082 0.64 0.65 0.65 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734153 NA NA NA NA NA 0.717 NA 3.3459 1317 19 7529415 7529415 C T intronic ARHGEF18 NA NA NA intronic ENSG00000104880,ENSG00000268861 NA NA NA NA NA 19p13.2 NA NA NA NA rs2287919 0.17 0.17 0.17 0.155152 0.2396 0.119 0.2061 0.0832 0.1667 0.25 0.14 0.18 0.08 0.1985 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325549 NA NA 0.216047 0.098956 NA 0.167 NA 3.345853 1317 12 30787228 30787228 C T intronic IPO8 NA NA NA intronic ENSG00000133704 NA NA NA NA NA 12p11.21 NA NA NA NA rs10843797 0.18 0.18 0.188 0.188099 0.2256 0.0734 0.1282 0.292 0.1697 0.23 0.06 0.11 0.27 0.2077 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197957 NA NA 0.221047 0.265093 NA 0.181 NA 3.345653 1317 1 40229319 40229319 G A intronic BMP8B,PPIE NA NA NA UTR3 ENSG00000116985 ENST00000397360:c.*38C>T NA NA NA NA 1p34.2 NA NA NA NA rs493473 0.35 0.35 0.279 NA NA NA NA NA NA 0.4 0.22 0.37 0.42 0.3685 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093983 NA NA 0.452561 0.342798 NA 0.246 NA 3.3456057 1317 20 37580130 37580130 A C intronic FAM83D NA NA NA intronic ENSG00000101447 NA NA NA NA NA 20q11.23 NA NA NA NA rs4300896 0.4 0.4 0.4 0.385184 0.34 0.4226 0.3818 0.4728 0.2771 0.35 0.36 0.37 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.084634 NA NA 0.314917 0.469178 NA 0.341 NA 3.345083 1317 2 201466954 201466954 C G intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs2248130 0.4 0.4 0.401 0.377196 0.3231 0.4395 0.3458 0.4236 0.3282 0.33 0.45 0.33 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218017 NA NA 0.331867 0.421243 NA 0.5 NA 3.345033 1318 1 237620049 237620049 T C intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs2045955 0.54 0.54 0.521 0.53115 0.5596 0.7788 0.5245 0.2716 0.6022 0.57 0.77 0.52 0.25 0.5514 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376286 NA NA 0.544064 0.288644 NA 0.551 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036708.1;CLNDSDB=.;CLNDSDBID=. 3.344936 1318 1 155822971 155822971 C T intronic GON4L NA NA NA intronic ENSG00000116580 NA NA NA NA NA 1q22 NA NA NA NA rs822490 0.43 0.43 0.407 0.447883 0.6551 0.3056 0.6037 0.1891 0.6207 0.65 0.27 0.57 0.18 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164718 NA NA NA NA NA 0.413 NA 3.3449 1318 5 169568872 169568872 A G intergenic FOXI1,C5orf58 dist=32143;dist=91078 NA NA ncRNA_exonic ENSG00000253219 NA NA NA NA NA 5q35.1 NA NA NA NA rs7729440 0.54 0.54 0.528 0.521765 0.6551 0.4464 0.7118 0.2935 0.636 0.64 0.47 0.71 0.34 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022395 NA NA NA NA NA 0.478 NA 3.3449 1318 5 179731635 179731635 C G intronic GFPT2 NA NA NA intronic ENSG00000131459 NA NA NA NA NA 5q35.3 NA NA NA NA rs888922 0.62 0.62 0.601 0.592452 0.6551 0.8274 0.6081 0.3661 0.5808 0.66 0.84 0.6 0.34 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590467 NA NA NA NA NA 0.565 NA 3.3449 1318 17 81051887 81051887 T G intronic METRNL NA NA NA intronic ENSG00000176845 NA NA NA NA NA 17q25.3 NA NA NA NA rs7223467 0.55 0.55 0.548 0.572484 0.6551 0.4216 0.513 0.6067 0.6391 0.64 0.36 0.55 0.62 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509334 NA NA NA NA NA 0.558 NA 3.3449 1318 12 117672339 117672339 T C intronic NOS1 NA NA NA intronic ENSG00000089250 NA NA NA NA NA 12q24.22 NA NA NA NA rs1875140 0.3 0.3 0.32 0.312101 0.2137 0.3938 0.2118 0.4213 0.2526 0.21 0.37 0.2 0.42 0.2403 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463741 NA NA 0.201297 0.332148 NA 0.29 NA 3.344703 1318 1 28220484 28220484 C A intronic RPA2 NA NA NA intronic ENSG00000117748 NA NA NA NA NA 1p35.3 NA NA NA NA rs17257252 0.13 0.13 0.124 0.105831 0.2296 0.0823 0.1167 0.0091 0.1258 0.24 0.08 0.15 0.01 0.1862 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568702 NA NA 0.239535 0.043123 NA 0.08 NA 3.344665 1318 19 6475613 6475613 T C intronic DENND1C NA NA NA UTR3 ENSG00000205744 ENST00000590867:c.*41A>G NA NA NA NA 19p13.3 NA NA Name=2 NA rs3745571 0.49 0.49 0.47 0.469848 0.6014 0.3383 0.5663 0.3865 0.5143 0.61 0.34 0.56 0.43 0.5633 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811435 NA NA 0.657392 0.458293 NA 0.377 NA 3.3445747 1318 19 2097986 2097986 T C intronic IZUMO4 NA NA NA intronic ENSG00000099840 NA NA NA NA NA 19p13.3 NA NA NA NA rs7250336 0.21 0.21 0.208 0.243011 0.2237 0.122 0.1398 0.3442 0.3241 0.2 0.13 0.16 0.34 0.2208 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251515 NA NA 0.211047 0.332501 NA 0.123 NA 3.344453 1318 11 193096 193096 T C UTR5 LOC653486,SCGB1C1 NM_001097610:c.-4T>C;NM_145651:c.-4T>C NA NA UTR5 ENSG00000188076 ENST00000342878:c.-4T>C NA NA NA NA 11p15.5 NA NA NA NA rs2280539 0.47 0.47 0.444 NA NA NA NA NA NA 0.52 0.41 0.44 0.48 0.4964 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586047 NA NA 0.492609 0.442937 NA 0.507 NA 3.3443244 1318 19 580811 580811 G A intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA NA NA rs11879178 0.25 0.25 0.211 0.326677 0.1899 0.4563 0.2867 0.3275 0.3609 0.14 0.41 0.22 0.28 0.2765 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734425 NA NA 0.189595 0.279954 NA NA NA 3.344005 1318 6 30552937 30552937 A C intronic ABCF1 NA NA NA intronic ENSG00000204574 NA NA NA NA NA 6p21.33 NA NA NA NA rs3130244 0.6 0.6 0.601 0.628794 0.6561 0.5982 0.5375 0.5605 0.7894 0.67 0.62 0.52 0.53 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.708474 NA NA NA NA NA 0.674 NA 3.3439 1318 15 97094594 97094594 T C intergenic NR2F2,SPATA8 dist=211102;dist=232085 NA NA upstream ENSG00000259340 NA NA NA NA NA 15q26.2 NA NA NA NA rs28734871 0.18 0.18 0.181 0.188498 0.1561 0.0843 0.1167 0.3797 0.1217 0.15 0.09 0.13 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877441 NA NA NA NA NA 0.21 NA 3.3439 1318 20 29557682 29557682 G A intergenic NONE,FRG1B dist=NONE;dist=54197 NA NA downstream ENSG00000231934 NA NA NA NA NA 20q11.21 NA NA NA NA rs6118886 0.18 0.18 0.132 0.199281 0.1561 0.2093 0.1599 0.2133 0.2423 0.15 0.21 0.16 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.575784 1.575784 NA NA NA NA NA NA 3.3439 1318 10 27405096 27405096 A G intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs2297152 0.34 0.34 0.332 0.347045 0.2247 0.5496 0.1873 0.3071 0.4315 0.23 0.6 0.19 0.3 0.2532 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554536 NA NA 0.178256 0.303904 NA 0.275 NA 3.343844 1318 1 186270894 186270894 A G ncRNA_intronic MIR548F1,RNU6-72P NA NA NA intronic ENSG00000116690 NA NA NA NA NA 1q31.1 NA NA NA NA rs1547084 0.25 0.25 0.231 0.232029 0.33 0.128 0.4063 0.1505 0.2249 0.35 0.13 0.4 0.13 0.3051 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191483 NA NA 0.354419 0.189968 NA 0.217 NA 3.3438143 1318 10 27437994 27437994 C T intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs10764675 0.34 0.34 0.339 0.347244 0.2247 0.5506 0.1873 0.3071 0.4315 0.23 0.6 0.19 0.3 0.2537 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822655 NA NA 0.177791 0.301407 NA 0.217 NA 3.343809 1318 2 89161322 89161322 C G intergenic MIR4436A,NONE dist=49354;dist=NONE NA NA ncRNA_intronic ENSG00000231486 NA NA NA NA NA 2p11.2 NA NA NA NA rs232223 0.39 0.39 0.39 0.352436 0.3151 0.3353 0.3703 0.4607 0.2495 0.32 0.42 0.41 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488759 NA NA 0.34111 0.470333 ID=COSN395702;OCCURENCE=1(lung) 0.21 NA 3.34379 1318 4 144920638 144920638 A T intronic GYPB NA NA NA ncRNA_intronic ENSG00000248828 NA NA NA NA NA 4q31.21 NA NA NA NA rs7662277 0.21 0.21 0.171 0.235024 0.339 0.0347 0.3429 0.1846 0.3262 0.29 0.04 0.33 0.19 0.3394 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271569 NA NA 0.311217 0.186798 NA 0.312 NA 3.3437163 1318 3 183905103 183905103 G C intronic ABCF3 NA NA NA intronic ENSG00000145191,ENSG00000161204 NA NA NA NA NA 3q27.1 NA NA NA NA rs2942056 0.37 0.37 0.352 0.375599 0.3131 0.5972 0.3386 0.2375 0.4243 0.3 0.62 0.33 0.24 0.3432 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178205 NA NA NA NA NA 0.261 NA 3.3437 1318 20 8770282 8770282 G A intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs6039269 0.3 0.3 0.295 0.323682 0.327 0.3204 0.2363 0.3238 0.3855 0.3 0.31 0.29 0.29 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87511 NA NA 0.329353 0.325867 NA 0.348 NA 3.343647 1318 4 123113352 123113352 A G intronic KIAA1109 NA NA NA intronic ENSG00000138688 NA NA NA NA NA 4q27 NA NA NA NA rs72687029 0.14 0.14 0.117 0.123802 0.2406 0.125 0.1297 0.0068 0.1564 0.24 0.13 0.14 0.01 0.2016 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.985839 1.985839 NA 0.214198 0.037181 NA 0.08 NA 3.343602 1318 10 27401056 27401056 C T intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs11015538 0.34 0.34 0.333 0.347244 0.2247 0.5506 0.1873 0.3071 0.4315 0.23 0.6 0.19 0.3 0.2536 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.594473 NA NA 0.178256 0.303904 NA 0.275 NA 3.343444 1318 17 72346855 72346855 T C exonic KIF19 NA synonymous SNV KIF19:NM_153209:exon12:c.T1398C:p.H466H exonic ENSG00000196169 NA synonymous SNV ENSG00000196169:ENST00000551294:exon11:c.T1272C:p.H424H,ENSG00000196169:ENST00000389916:exon12:c.T1398C:p.H466H NA NA 17q25.1 NA NA NA NA rs11077744 0.62 0.62 0.598 0.602436 0.7843 0.7421 0.7493 0.1566 0.7699 0.77 0.72 0.73 0.18 0.743 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.371001 NA NA 0.796279 0.250113 NA 0.587 NA 3.3430876 1318 12 43819298 43819298 G A intronic ADAMTS20 NA NA NA intronic ENSG00000173157 NA NA NA NA NA 12q12 NA Name=CTCF NA NA rs10785430 0.63 0.63 0.629 0.661741 0.5298 0.8611 0.4553 0.6838 0.7086 0.52 0.87 0.45 0.63 0.5941 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032687 NA NA 0.533023 0.640263 NA 0.645 NA 3.343077 1318 12 109671701 109671701 C T intronic ACACB NA NA NA intronic ENSG00000076555 NA NA NA NA NA 12q24.11 NA NA NA NA rs7974040 0.17 0.17 0.184 0.145168 0.2445 0.0119 0.147 0.2118 0.089 0.25 0.01 0.16 0.24 0.1864 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217978 NA NA 0.226163 0.193827 NA 0.203 NA 3.342937 1318 19 10671664 10671664 T C intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA NA NA NA rs7259124 0.38 0.38 0.331 0.365216 0.17 0.7153 0.4841 0.2262 0.3088 0.17 0.74 0.43 0.24 0.2851 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755093 NA NA 0.201977 0.217204 NA 0.268 NA 3.342923 1318 3 54604188 54604188 T C intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA NA NA 3p14.3 NA NA NA NA rs2251788 0.53 0.53 0.536 0.520567 0.6571 0.4534 0.5331 0.3986 0.6053 0.66 0.45 0.54 0.41 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210962 NA NA NA NA ID=COSN166905;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.609 NA 3.3429 1318 3 125786695 125786695 G A intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs4308225 0.65 0.65 0.636 0.647764 0.6571 0.6627 0.6816 0.5719 0.7014 0.66 0.65 0.68 0.59 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.990687 NA NA NA NA NA 0.681 NA 3.3429 1318 3 190341292 190341292 C T intronic IL1RAP NA NA NA intronic ENSG00000196083 NA NA NA NA NA 3q28 NA NA NA NA rs4687161 0.61 0.61 0.602 0.59345 0.6571 0.8125 0.5951 0.3086 0.6861 0.66 0.78 0.63 0.34 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129751 NA NA NA NA NA 0.601 NA 3.3429 1318 3 197581147 197581147 A G intronic LRCH3 NA NA NA intronic ENSG00000186001 NA NA NA NA NA 3q29 NA NA NA NA rs9863587 0.59 0.59 0.579 0.619609 0.6571 0.496 0.5274 0.6747 0.6994 0.64 0.52 0.54 0.63 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.214848 NA NA NA NA ID=COSN167131;OCCURENCE=1(large_intestine) 0.551 NA 3.3429 1318 4 55599436 55599436 T C intronic KIT NA NA NA intronic ENSG00000157404 NA NA NA NA NA 4q12 NA NA NA NA rs1008658 0.55 0.55 0.527 0.504792 0.6571 0.6875 0.5692 0.2035 0.5215 0.65 0.68 0.57 0.21 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725238 NA NA NA NA NA 0.478 NA 3.3429 1318 9 78819998 78819998 T C intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs10869732 0.69 0.69 0.658 0.672524 0.6571 0.756 0.7781 0.5461 0.6984 0.67 0.79 0.76 0.54 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241698 1.241698 NA NA NA NA 0.725 NA 3.3429 1318 10 15713507 15713507 A G intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs7100228 0.48 0.48 0.473 0.514976 0.6571 0.4196 0.4481 0.3192 0.7791 0.66 0.36 0.47 0.35 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798597 NA NA NA NA NA 0.5 NA 3.3429 1318 10 48386110 48386110 T C intronic RBP3 NA NA NA intronic ENSG00000107618 NA NA NA NA NA 10q11.22 NA NA NA NA rs2070706 0.62 0.62 0.59 0.597244 0.6571 0.6171 0.7248 0.4871 0.5736 0.65 0.62 0.69 0.52 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.90496 NA NA NA NA NA 0.659 NA 3.3429 1318 14 21955930 21955930 G A intronic TOX4 NA NA NA intronic ENSG00000092203 NA NA NA NA NA 14q11.2 NA NA NA NA rs1061031 0.65 0.65 0.656 0.65595 0.6571 0.7014 0.621 0.6604 0.6268 0.65 0.7 0.64 0.61 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438952 NA NA NA NA NA 0.725 NA 3.3429 1318 16 66434571 66434571 G C intronic CDH5 NA NA NA intronic ENSG00000179776 NA NA NA NA NA 16q21 NA NA NA NA rs6499082 0.71 0.71 0.698 0.693291 0.6571 0.8224 0.8069 0.6082 0.6319 0.66 0.84 0.76 0.61 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585946 NA NA NA NA NA 0.594 NA 3.3429 1318 17 3631620 3631620 G C intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA NA NA NA rs12943844 0.57 0.57 0.59 0.608626 0.6571 0.3442 0.4366 0.7617 0.7464 0.65 0.35 0.47 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.003871 NA NA NA NA NA 0.594 NA 3.3429 1318 9 78938236 78938236 G A intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs55762660 0.18 0.18 0.178 0.196486 0.2266 0.1022 0.1628 0.233 0.2372 0.23 0.08 0.17 0.23 0.2137 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806915 NA NA 0.216976 0.222032 NA 0.138 NA 3.342724 1318 3 111730591 111730591 G T intronic TAGLN3 NA NA NA intronic ENSG00000144834 NA NA NA NA NA 3q13.2 NA NA Name=8 NA rs3749311 0.43 0.43 0.426 0.399561 0.5746 0.3938 0.5317 0.1664 0.4468 0.57 0.42 0.53 0.16 0.5204 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081255 NA NA 0.562326 0.235815 NA 0.5 NA 3.342674 1318 1 150258838 150258838 C G intronic C1orf51 NA NA NA intronic ENSG00000159208 NA NA NA NA NA 1q21.2 NA Name=GATA3_(SC-268),FOXA1_(C-20) NA NA rs1122967 0.72 0.72 0.724 0.747804 0.5497 0.7738 0.719 0.9667 0.6493 0.55 0.77 0.67 0.97 0.5977 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173486 NA NA 0.510116 0.883568 NA 0.703 NA 3.342484 1318 17 57886125 57886125 T G intronic VMP1 NA NA NA intronic ENSG00000062716 NA NA NA NA NA 17q23.1 NA NA NA NA rs2645487 0.3 0.3 0.318 0.32528 0.1839 0.4563 0.1787 0.357 0.3967 0.19 0.47 0.2 0.36 0.2659 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.027175 NA NA 0.207791 0.324251 ID=COSN165479;OCCURENCE=1(breast) 0.275 NA 3.342409 1318 11 7817512 7817512 G T downstream OR5P2 NA NA NA ncRNA_UTR3 ENSG00000183303 NA NA NA NA NA 11p15.4 NA NA NA NA rs7931212 0.27 0.27 0.261 0.236621 0.2763 0.128 0.2911 0.3472 0.1196 0.29 0.15 0.28 0.37 0.2671 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79955 NA NA 0.281337 0.321785 NA 0.246 NA 3.3419296 1318 3 66293766 66293766 T C intronic SLC25A26 NA NA NA intronic ENSG00000144741 NA NA NA NA NA 3p14.1 NA NA NA NA rs66918103 0.15 0.15 0.122 0.114816 0.2475 0.1052 0.1427 0.034 0.0777 0.25 0.1 0.15 0.05 0.1807 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426526 NA NA 0.229884 0.059918 NA 0.196 NA 3.341916 1318 1 145538664 145538664 A G intronic ITGA10,NBPF10 NA NA NA intronic ENSG00000143127 NA NA NA NA NA 1q21.1 NA NA NA NA rs1109216 0.6 0.6 0.6 0.585663 0.6581 0.4415 0.5922 0.7141 0.4816 0.64 0.44 0.62 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.152598 2.152598 NA NA NA NA 0.565 NA 3.3419 1318 1 151747799 151747799 G A intronic TDRKH NA NA NA intronic ENSG00000182134 NA NA NA NA NA 1q21.3 NA NA NA NA rs1781419 0.69 0.69 0.678 0.707268 0.6581 0.6954 0.6513 0.7284 0.7812 0.66 0.71 0.64 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547686 NA NA NA NA NA 0.63 NA 3.3419 1318 1 155850558 155850558 T C intronic SYT11 NA NA NA intronic ENSG00000132718 NA NA NA NA NA 1q22 NA NA NA NA rs822508 0.42 0.42 0.395 0.433906 0.6581 0.1845 0.6167 0.2209 0.6186 0.65 0.18 0.58 0.21 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120637 NA NA NA NA NA 0.42 NA 3.3419 1318 1 155891045 155891045 A C intronic KIAA0907 NA NA NA intronic ENSG00000132680 NA NA NA NA NA 1q22 NA NA NA NA rs625658 0.39 0.39 0.377 0.399561 0.6581 0.1786 0.5994 0.1369 0.5746 0.65 0.17 0.56 0.12 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222496 NA NA NA NA NA 0.355 NA 3.3419 1318 4 79440425 79440425 T C intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs2903471 0.7 0.7 0.741 0.699681 0.6581 0.6815 0.5504 0.8283 0.6933 0.66 0.71 0.56 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657355 NA NA NA NA NA 0.71 NA 3.3419 1318 19 7682112 7682112 A C intronic CAMSAP3 NA NA NA intronic ENSG00000076826 NA NA NA NA NA 19p13.2 NA NA NA NA rs794077 0.75 0.75 0.75 0.738419 0.6581 0.8095 0.6888 0.9017 0.5624 0.66 0.82 0.64 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578396 NA NA NA NA NA 0.841 NA 3.3419 1318 19 19021970 19021970 T C intronic COPE NA NA NA intronic ENSG00000105669,ENSG00000268193 NA NA NA NA NA 19p13.11 NA NA NA NA rs1468461 0.62 0.62 0.634 0.613219 0.6581 0.2679 0.7435 0.8964 0.4479 0.65 0.29 0.77 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16667 NA NA NA NA NA 0.623 NA 3.3419 1318 2 202245953 202245953 A G intronic TRAK2 NA NA NA intronic ENSG00000115993 NA NA NA NA NA 2q33.1 NA NA NA NA rs3731710 NA NA NA 0.458067 0.6581 0.4871 0.5072 0.2738 0.4366 NA NA NA NA 0.0000178 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171859 NA NA NA NA NA NA NA 3.3418822 1318 12 48380682 48380682 G A intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs10875714 0.21 0.21 0.198 0.203674 0.2366 0.2629 0.1902 0.1611 0.1759 0.22 0.25 0.22 0.14 0.196 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535241 NA NA 0.226047 0.171811 NA 0.188 NA 3.341353 1318 5 148562981 148562981 C A intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647 NA NA NA NA NA 5q32 NA NA NA NA rs6887628 0.33 0.33 0.32 0.342452 0.3171 0.5208 0.281 0.2368 0.3712 0.3 0.49 0.29 0.22 0.3407 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176276 NA NA 0.334302 0.252383 NA 0.341 NA 3.3412313 1318 17 73723239 73723239 G A intronic ITGB4 NA NA NA intronic ENSG00000132470 NA NA NA NA NA 17q25.1 NA NA Name=2 NA rs2584100 0.41 0.41 0.403 0.399361 0.5706 0.494 0.464 0.0809 0.5102 0.56 0.44 0.48 0.1 0.5185 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3732 NA NA 0.569884 0.15842 NA 0.5 NA 3.341016 1318 1 109366370 109366370 C T intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs7522260 0.49 0.49 0.486 0.472045 0.659 0.3562 0.513 0.3192 0.5767 0.66 0.38 0.53 0.34 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405539 NA NA NA NA NA 0.558 NA 3.341 1318 1 145535611 145535611 T G intronic ITGA10,NBPF10 NA NA NA intronic ENSG00000143127 NA NA NA NA NA 1q21.1 NA NA NA NA rs4970851 0.6 0.6 0.589 0.586462 0.659 0.4454 0.5922 0.7141 0.4806 0.64 0.45 0.62 0.72 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046973 NA NA NA NA NA 0.565 NA 3.341 1318 3 53003021 53003021 G C intronic SFMBT1 NA NA NA intronic ENSG00000163935 NA NA NA NA NA 3p21.1 NA NA NA NA rs2245424 0.54 0.54 0.529 0.51877 0.659 0.6002 0.4914 0.3275 0.5685 0.65 0.56 0.49 0.38 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115975 NA NA NA NA NA 0.543 NA 3.341 1318 7 137732209 137732209 A C intergenic CREB3L2,AKR1D1 dist=45362;dist=28969 NA NA ncRNA_exonic ENSG00000231923 NA NA NA NA NA 7q33 NA NA NA NA rs998767 0.62 0.62 0.642 0.650759 0.659 0.4802 0.5432 0.7973 0.6963 0.67 0.44 0.55 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43154 NA NA NA NA NA 0.551 NA 3.341 1318 11 94704037 94704037 C G intronic CWC15 NA NA NA intronic ENSG00000150316 NA NA NA NA NA 11q21 NA NA NA NA rs3737505 0.51 0.51 0.523 0.511182 0.659 0.2688 0.5144 0.5862 0.5051 0.65 0.29 0.54 0.53 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174641 NA NA NA NA NA 0.674 NA 3.341 1318 15 84858253 84858253 A G intergenic LOC100505679,LOC440300 dist=7268;dist=2347 NA NA ncRNA_exonic ENSG00000259726 NA NA NA NA NA 15q25.2 NA NA NA NA rs435029 0.74 0.74 0.721 0.769768 0.659 0.6667 0.7709 0.9372 0.7628 0.65 0.67 0.75 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335909 NA NA NA NA NA NA NA 3.341 1318 19 10106671 10106671 C G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745592 0.39 0.39 0.386 0.389776 0.3231 0.3978 0.3617 0.5023 0.318 0.31 0.41 0.38 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153729 NA NA 0.335952 0.503613 NA 0.355 NA 3.340948 1318 3 54419977 54419977 C T intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA NA NA 3p14.3 NA NA NA NA rs9836159 0.22 0.22 0.209 0.21905 0.2177 0.1835 0.3069 0.2247 0.1871 0.22 0.17 0.29 0.21 0.2387 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298744 NA NA 0.202764 0.22394 NA 0.232 NA 3.340836 1318 18 61620766 61620766 G A intronic HMSD NA NA NA intronic ENSG00000221887 NA NA NA NA NA 18q22.1 NA NA NA NA rs9945924 0.27 0.27 0.286 0.281949 0.2177 0.2589 0.2896 0.41 0.1933 0.2 0.21 0.28 0.42 0.2367 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.119929 NA NA 0.204774 0.389668 ID=COSM148439;OCCURENCE=1(stomach) 0.304 NA 3.340826 1318 16 20627876 20627876 A G intergenic ACSM2B,ACSM1 dist=40181;dist=6683 NA NA intronic ENSG00000005187 NA NA NA NA NA 16p12.3 NA NA NA NA rs7195927 0.58 0.58 0.608 0.605631 0.326 0.8532 0.3372 0.7821 0.59 0.34 0.88 0.36 0.75 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949558 NA NA NA NA NA 0.565 NA 3.3406667 1318 8 142176280 142176280 G A intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA NA 8q24.3 NA NA NA NA rs2241735 0.21 0.21 0.205 0.205471 0.2485 0.1954 0.1686 0.1876 0.2219 0.25 0.2 0.17 0.19 0.2048 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.993432 NA NA 0.206047 0.199274 ID=COSM150555;OCCURENCE=1(stomach) 0.116 NA 3.340653 1318 1 15770101 15770101 C A intronic CTRC NA NA NA intronic ENSG00000162438 NA NA NA NA NA 1p36.21 NA NA NA NA rs10803384 0.19 0.19 0.173 0.171326 0.2276 0.0605 0.2161 0.2292 0.1176 0.23 0.08 0.22 0.23 0.1992 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707091 NA NA 0.232558 0.221516 NA 0.138 NA 3.340642 1318 1 33741787 33741787 G A intronic ZNF362 NA NA NA intronic ENSG00000160094 NA NA NA NA NA 1p35.1 NA NA NA NA rs12743549 0.17 0.17 0.152 0.166733 0.2247 0.2143 0.17 0.0113 0.2658 0.22 0.22 0.16 0.02 0.2034 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231949 NA NA 0.231279 0.046754 NA 0.13 NA 3.340621 1318 1 38272660 38272660 G A intronic YRDC NA NA NA UTR5 ENSG00000197982 ENST00000373043:c.-1697G>A NA NA NA NA 1p34.3 NA NA NA NA rs2291297 0.23 0.23 0.216 0.204673 0.2783 0.2639 0.2089 0.0416 0.2853 0.3 0.29 0.21 0.07 0.2609 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447021 NA NA 0.287093 0.083522 NA 0.138 NA 3.3403737 1318 15 82444437 82444437 A G exonic EFTUD1 NA synonymous SNV EFTUD1:NM_001040610:exon16:c.T2205C:p.G735G,EFTUD1:NM_024580:exon18:c.T2358C:p.G786G exonic ENSG00000140598 NA synonymous SNV ENSG00000140598:ENST00000359445:exon16:c.T2205C:p.G735G,ENSG00000140598:ENST00000268206:exon18:c.T2358C:p.G786G NA NA 15q25.2 NA NA NA NA rs905450 0.82 0.82 0.815 0.785543 0.7624 0.8353 0.853 0.8714 0.5941 0.75 0.83 0.83 0.9 0.7775 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.531709 NA NA 0.786602 0.8531 NA 0.812 NA 3.3401646 1318 19 580333 580333 G A intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA NA NA NA rs11879069 0.3 0.3 0.283 0.326478 0.1889 0.4563 0.2867 0.3275 0.3609 0.18 0.46 0.26 0.31 0.2568 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085124 NA NA 0.214286 0.293182 NA 0.297 NA 3.340014 1318 1 67487119 67487119 C A intronic SLC35D1 NA NA NA intronic ENSG00000116704 NA NA NA NA NA 1p31.3 NA NA NA NA rs2065002 0.65 0.65 0.591 0.632188 0.66 0.8413 0.732 0.2776 0.7965 0.65 0.85 0.75 0.33 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148869 NA NA NA NA NA 0.572 NA 3.34 1318 2 160993800 160993800 A T intronic ITGB6 NA NA NA intronic ENSG00000115221 NA NA NA NA NA 2q24.2 NA NA NA NA rs35720878 0.62 0.62 0.583 0.59365 0.66 0.498 0.755 0.6248 0.4673 0.66 0.49 0.73 0.61 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359156 NA NA NA NA NA 0.601 NA 3.34 1318 8 39525829 39525829 A C intronic ADAM18 NA NA NA intronic ENSG00000168619 NA NA NA NA NA 8p11.22 NA NA NA NA rs2305393 0.4 0.4 0.369 0.361422 0.66 0.1438 0.5634 0.1589 0.409 0.67 0.14 0.57 0.17 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104954 NA NA NA NA NA 0.413 NA 3.34 1318 18 196829 196829 G A intronic USP14 NA NA NA intronic ENSG00000101557 NA NA NA NA NA 18p11.32 NA NA NA NA rs655781 0.65 0.65 0.653 0.686901 0.66 0.5268 0.7723 0.6823 0.8252 0.66 0.56 0.75 0.68 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14447 NA NA NA NA NA 0.725 NA 3.34 1318 10 103281634 103281634 C G intronic BTRC NA NA NA intronic ENSG00000166167 NA NA NA NA NA 10q24.32 NA NA NA NA rs6584429 0.4 0.4 0.414 0.415535 0.2097 0.6171 0.2421 0.6172 0.2699 0.21 0.62 0.23 0.57 0.2639 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942919 NA NA 0.18686 0.537449 NA 0.391 NA 3.33954 1318 19 49950413 49950413 C G intronic PIH1D1 NA NA NA intronic ENSG00000104872 NA NA NA NA NA 19q13.33 NA NA NA NA rs2335090 0.28 0.28 0.288 0.255791 0.3221 0.005 0.232 0.5257 0.0982 0.32 0.01 0.25 0.55 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294919 NA NA 0.338781 0.499277 NA 0.355 NA 3.339119 1318 19 41628677 41628677 T G intronic CYP2F1 NA NA NA intronic ENSG00000197446 NA NA NA NA NA 19q13.2 NA NA NA NA rs305975 0.23 0.23 0.212 0.245208 0.2107 0.2272 0.2291 0.2708 0.2761 0.22 0.21 0.23 0.27 0.2359 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434685 NA NA 0.214302 0.260327 NA 0.261 NA 3.339098 1318 4 110800372 110800372 G A intergenic LRIT3,EGF dist=6901;dist=33668 NA NA ncRNA_exonic ENSG00000249681 NA NA NA NA NA 4q25 NA NA NA NA rs6533471 0.56 0.56 0.577 0.525958 0.661 0.4504 0.4323 0.5794 0.4591 0.66 0.47 0.5 0.55 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496976 NA NA NA NA NA 0.464 NA 3.339 1318 4 110800432 110800432 G C intergenic LRIT3,EGF dist=6961;dist=33608 NA NA ncRNA_exonic ENSG00000249681 NA NA NA NA NA 4q25 NA NA NA NA rs6533472 0.56 0.56 0.572 0.525958 0.661 0.4504 0.4323 0.5794 0.4591 0.66 0.47 0.5 0.55 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311643 NA NA NA NA NA 0.464 NA 3.339 1318 5 95278679 95278679 G A intronic ELL2 NA NA NA intronic ENSG00000118985 NA NA NA NA NA 5q15 NA NA NA NA rs3734131 0.31 0.31 0.331 0.313698 0.2217 0.3919 0.2147 0.4365 0.2321 0.23 0.39 0.19 0.43 0.2389 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111842 NA NA 0.200465 0.399228 NA 0.399 NA 3.338935 1318 9 137660194 137660194 G T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs4842162 0.45 0.45 0.455 0.455671 0.3151 0.7083 0.3862 0.4266 0.4284 0.31 0.7 0.38 0.43 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991527 NA NA 0.346009 0.45448 NA 0.42 NA 3.338891 1318 15 38631930 38631930 C A intronic SPRED1 NA NA NA intronic ENSG00000166068 NA NA NA NA NA 15q14 Score=817;Name=V$FOXO4_02 NA NA NA rs7180446 0.82 0.82 0.832 0.799321 0.9006 0.8026 0.8401 0.649 0.8661 0.92 0.8 0.82 0.71 0.8637 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.401433 1.401433 NA 0.896905 0.685909 NA 0.848 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000041243.2;CLNDSDB=.;CLNDSDBID=. 3.338795 1318 15 21938182 21938182 A G ncRNA_exonic LOC646214 NA NA NA upstream ENSG00000237161 NA NA NA NA NA 15q11.2 NA NA NA NA rs2343904 0.84 0.84 0.863 0.855232 0.828 0.8065 0.8963 0.9342 0.7975 0.79 0.79 0.88 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364446 NA NA NA NA NA 0.942 NA 3.3386666 1318 2 98355990 98355990 G A UTR3 ZAP70 NM_001079:c.*29G>A,NM_207519:c.*29G>A NA NA UTR3 ENSG00000115085 ENST00000264972:c.*29G>A,ENST00000442208:c.*29G>A NA NA NA NA 2q11.2 NA NA NA NA rs11678558 0.19 0.19 0.136 0.148562 0.3628 0.0099 0.2075 0.087 0.1125 0.38 0.01 0.22 0.08 0.2916 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531465 NA NA 0.340284 0.126136 NA 0.167 NA 3.3386494 1318 2 234372767 234372767 T C intronic DGKD NA NA NA intronic ENSG00000077044 NA NA NA NA NA 2q37.1 NA NA NA NA rs2924811 0.25 0.25 0.244 0.262979 0.2435 0.1419 0.1585 0.5333 0.1166 0.23 0.12 0.16 0.51 0.2105 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691406 NA NA 0.207606 0.455227 NA 0.203 NA 3.338394 1318 1 30699340 30699340 T G intergenic PTPRU,MATN1 dist=1046015;dist=484784 NA NA upstream ENSG00000231251 NA NA NA NA NA 1p35.2 NA NA NA NA rs6684063 0.5 0.5 0.502 0.497204 0.162 0.7312 0.5072 0.7035 0.3149 0.18 0.75 0.44 0.73 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344957 NA NA NA NA NA 0.384 NA 3.338 1318 9 112918531 112918531 A G intronic AKAP2,PALM2-AKAP2 NA NA NA intronic ENSG00000157654,ENSG00000241978 NA NA NA NA NA 9q31.3 NA NA NA NA rs10759392 0.75 0.75 0.75 0.735024 0.662 0.9643 0.7147 0.6271 0.7342 0.68 0.96 0.67 0.68 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450389 NA NA NA NA NA 0.826 NA 3.338 1318 16 8558053 8558053 G A intergenic RBFOX1,TMEM114 dist=794713;dist=61449 NA NA upstream ENSG00000260379 NA NA NA NA NA 16p13.2 NA NA NA NA rs77048110 0.09 0.09 0.078 0.0662939 0.162 0.002 0.1225 0.0325 0.0399 0.16 NA 0.13 0.04 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908753 NA NA NA NA NA 0.058 NA 3.338 1318 16 81146190 81146190 G A intronic PKD1L2 NA NA NA intronic ENSG00000166473 NA NA NA NA NA 16q23.2 NA NA NA NA rs11642587 NA NA NA 0.631589 0.662 0.6915 0.7118 0.5628 0.5746 NA NA NA NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419548 NA NA NA NA NA 0.159 NA 3.338 1318 19 3448869 3448869 A G intronic NFIC NA NA NA intronic ENSG00000141905 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807473 0.39 0.39 0.383 0.343051 0.662 0.2202 0.4813 0.0855 0.3916 0.64 0.21 0.52 0.11 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591835 NA NA NA NA NA 0.464 NA 3.338 1318 21 40900795 40900795 T C intergenic SH3BGR,C21orf88 dist=13362;dist=68280 NA NA ncRNA_exonic ENSG00000235012 NA NA NA NA NA 21q22.2 NA NA NA NA rs645495 0.6 0.6 0.563 0.590256 0.662 0.7649 0.6744 0.3124 0.6524 0.66 0.74 0.68 0.29 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.208927 2.208927 NA NA NA NA 0.616 NA 3.338 1318 19 23405580 23405580 T C intergenic ZNF730,ZNF724P dist=75566;dist=1027 NA NA exonic ENSG00000196081 NA synonymous SNV ENSG00000196081:ENST00000418100:exon4:c.A1467G:p.L489L NA NA 19p12 NA NA NA NA rs10412126 0.53 0.53 0.492 0.50639 0.6014 0.6627 0.6398 0.1982 0.5695 0.62 0.66 0.59 0.21 0.5607 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.224753 NA NA NA NA ID=COSM1524979,COSM1524980;OCCURENCE=1(lung) 0.391 NA 3.3379 1318 10 37505099 37505099 C A intronic ANKRD30A NA NA NA intronic ENSG00000148513 NA NA NA NA NA 10p11.21 NA NA NA NA rs34285151 0.24 0.24 0.248 0.230431 0.2227 0.1558 0.1571 0.4244 0.1053 0.22 0.14 0.2 0.4 0.2099 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703117 NA NA 0.22952 0.393177 NA 0.268 NA 3.33788 1318 6 18463633 18463633 C T intronic RNF144B NA NA NA intronic ENSG00000137393 NA NA NA NA NA 6p22.3 NA NA NA NA rs9371061 0.24 0.24 0.239 0.229233 0.2177 0.1677 0.2046 0.354 0.1534 0.22 0.18 0.2 0.38 0.2268 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631693 NA NA 0.218023 0.329551 NA 0.297 NA 3.337477 1318 2 175629021 175629021 C A intronic CHRNA1 NA NA NA ncRNA_intronic ENSG00000236449 NA NA NA NA NA 2q31.1 NA NA NA NA rs7560774 0.34 0.34 0.303 0.280751 0.5239 0.2163 0.4856 0.0635 0.2454 0.52 0.23 0.49 0.07 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569252 NA NA 0.47203 0.117052 NA 0.333 NA 3.3374033 1318 9 137660375 137660375 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs10776900 0.45 0.45 0.424 0.453874 0.3161 0.7083 0.3876 0.4183 0.4284 0.31 0.7 0.38 0.43 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30111 NA NA 0.346637 0.446532 NA 0.413 NA 3.337263 1318 18 11609903 11609903 C G intergenic PIEZO2,GNAL dist=461142;dist=79111 NA NA ncRNA_exonic ENSG00000236396 NA NA NA Score=536;Name=lod=202 NA 18p11.21 NA NA NA NA rs8087561 0.73 0.73 0.776 0.853834 0.8221 0.879 0.8703 0.8283 0.8834 0.68 0.79 0.78 0.7 0.8407 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356011 NA NA NA NA NA NA NA 3.3372 1318 1 15860803 15860803 C T intronic DNAJC16 NA NA NA intronic ENSG00000116138 NA NA NA NA NA 1p36.21 NA NA NA NA rs11583306 0.23 0.23 0.24 0.229832 0.2167 0.0466 0.1873 0.4289 0.1933 0.22 0.05 0.24 0.44 0.2224 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174937 NA NA 0.223721 0.415797 NA 0.21 NA 3.337179 1318 1 167042590 167042590 C T intronic GPA33 NA NA NA intronic ENSG00000143167 NA NA NA NA NA 1q24.1 NA NA NA NA rs12139875 0.15 0.15 0.151 0.139577 0.2435 NA 0.1398 0.1974 0.0982 0.23 NA 0.15 0.2 0.1919 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584346 NA NA 0.227558 0.185883 NA 0.145 NA 3.337042 1318 2 27505782 27505782 C T intronic TRIM54 NA NA NA intronic ENSG00000138100 NA NA NA NA NA 2p23.3 NA NA NA NA rs62130709 0.23 0.23 0.215 0.260184 0.2028 0.1577 0.3602 0.2648 0.3476 0.22 0.13 0.31 0.3 0.2531 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113329 NA NA 0.207093 0.237177 NA 0.261 NA 3.337007 1318 1 231486989 231486989 A C intronic SPRTN NA NA NA intronic ENSG00000010072 NA NA NA NA NA 1q42.2 NA NA NA NA rs2474633 0.59 0.59 0.544 0.562101 0.663 0.5308 0.5259 0.5212 0.5716 0.68 0.55 0.57 0.49 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369226 NA NA NA NA NA 0.275 NA 3.337 1318 2 202575907 202575907 A G intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA NA NA 2q33.1 NA NA NA NA rs2882231 0.55 0.55 0.537 0.50619 0.663 0.3492 0.7291 0.4448 0.4315 0.65 0.38 0.73 0.46 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.500349 1.500349 NA NA NA NA 0.601 NA 3.337 1318 10 1126293 1126293 T C intronic WDR37 NA NA NA intronic ENSG00000047056 NA NA NA NA NA 10p15.3 NA NA NA NA rs7087381 0.39 0.39 0.39 0.422324 0.3181 0.4444 0.4265 0.4932 0.408 0.33 0.39 0.39 0.48 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820545 NA NA 0.345066 0.489884 NA 0.391 NA 3.336834 1318 16 88958282 88958282 C G intronic CBFA2T3 NA NA NA intronic ENSG00000129993 NA NA NA NA NA 16q24.3 NA NA NA NA rs3743541 0.36 0.36 0.351 0.38119 0.2177 0.4891 0.304 0.6256 0.1626 0.2 0.47 0.24 0.55 0.2566 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240868 NA NA 0.188997 0.574066 NA 0.29 NA 3.336703 1318 6 11306153 11306153 C T intronic NEDD9 NA NA NA intronic ENSG00000111859 NA NA NA NA NA 6p24.2 NA NA NA NA rs16871236 0.41 0.41 0.409 0.426518 0.341 0.6746 0.3948 0.3011 0.4509 0.33 0.66 0.36 0.29 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019702 NA NA 0.322753 0.289017 NA 0.319 NA 3.336247 1318 19 17835831 17835831 T G intronic MAP1S NA NA NA intronic ENSG00000130479 NA NA NA NA NA 19p13.11 NA NA NA NA rs3761055 0.24 0.24 0.245 0.253195 0.2386 0.0169 0.232 0.5318 0.1503 0.23 0.01 0.24 0.53 0.2159 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670863 NA NA 0.209419 0.476396 NA 0.304 NA 3.336081 1318 12 129500352 129500352 G A intergenic GLT1D1,TMEM132D dist=30843;dist=55919 NA NA ncRNA_exonic ENSG00000256581 NA NA NA NA NA 12q24.33 NA NA NA NA rs540912 0.75 0.75 0.736 0.767173 0.664 0.8899 0.7695 0.7504 0.7679 0.67 0.9 0.74 0.73 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414952 NA NA NA NA NA 0.63 NA 3.336 1318 12 129501057 129501057 G T intergenic GLT1D1,TMEM132D dist=31548;dist=55214 NA NA ncRNA_exonic ENSG00000256581 NA NA NA NA NA 12q24.33 NA NA NA NA rs491872 0.75 0.75 0.742 0.767173 0.664 0.8899 0.7695 0.7504 0.7679 0.67 0.9 0.74 0.73 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.689108 NA NA NA NA NA 0.63 NA 3.336 1318 2 44570776 44570776 C T intronic PREPL NA NA NA intronic ENSG00000138078 NA NA NA NA NA 2p21 NA NA NA NA rs17580226 0.59 0.59 0.622 0.615016 0.664 0.3115 0.6196 0.7632 0.6738 0.65 0.34 0.65 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252453 NA NA NA NA NA 0.659 NA 3.336 1318 2 44570804 44570804 C A intronic PREPL NA NA NA intronic ENSG00000138078 NA NA NA NA NA 2p21 NA NA NA NA rs12053381 0.57 0.57 0.59 0.588059 0.664 0.3125 0.6095 0.6657 0.6738 0.65 0.34 0.64 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344674 NA NA NA NA NA 0.63 NA 3.336 1318 12 123812629 123812629 G C intronic SBNO1 NA NA NA intronic ENSG00000139697 NA NA NA NA NA 12q24.31 NA NA NA NA rs28419092 0.53 0.53 0.488 0.493411 0.664 0.7004 0.5836 0.0567 0.6309 0.67 0.7 0.59 0.08 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076658 NA NA NA NA NA 0.42 NA 3.336 1318 15 76085273 76085273 G T intergenic MIR4313,UBE2Q2 dist=30617;dist=50349 NA NA upstream ENSG00000261820 NA NA NA NA NA 15q24.2 NA NA NA NA rs34821913 0.24 0.24 0.232 0.265375 0.164 0.4544 0.1542 0.1339 0.4315 0.16 0.46 0.18 0.14 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969695 NA NA NA NA NA 0.254 NA 3.336 1318 5 179729625 179729625 A G intronic GFPT2 NA NA NA intronic ENSG00000131459 NA NA NA NA NA 5q35.3 NA NA NA NA rs2303005 0.29 0.29 0.254 0.286142 0.2256 0.4653 0.2925 0.1921 0.2863 0.24 0.44 0.29 0.18 0.2409 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464196 NA NA 0.19768 0.20357 NA 0.225 NA 3.33582 1318 7 21920556 21920556 G A intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs62445884 0.13 0.13 0.11 0.131989 0.2416 0.0903 0.1671 0.0477 0.1513 0.23 0.05 0.17 0.05 0.1944 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.321216 NA NA 0.228186 0.073304 NA 0.094 NA 3.335814 1318 1 109482220 109482220 C T intronic CLCC1 NA NA NA intronic ENSG00000121940,ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs338480 0.2 0.2 0.19 0.191893 0.2157 0.0337 0.1585 0.3101 0.1943 0.23 0.03 0.19 0.34 0.233 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776101 NA NA 0.215515 0.274172 NA 0.138 NA 3.335785 1318 10 104184213 104184213 G A intronic CUEDC2 NA NA NA intronic ENSG00000107874 NA NA NA NA NA 10q24.32 NA NA NA NA rs41287462 0.16 0.16 0.139 0.197284 0.2097 0.0923 0.2695 0.1097 0.3599 0.2 0.09 0.26 0.11 0.2361 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.324538 NA NA 0.218465 0.113614 NA 0.203 NA 3.335735 1318 14 92102759 92102759 A G intronic CATSPERB NA NA NA intronic ENSG00000133962 NA NA NA NA NA 14q32.12 NA NA NA NA rs17127484 0.23 0.23 0.252 0.228035 0.2386 0.244 0.1657 0.3132 0.1299 0.24 0.25 0.18 0.25 0.2087 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376692 NA NA 0.216977 0.278257 NA 0.312 NA 3.335723 1318 5 76878139 76878139 T C intergenic WDR41,OTP dist=89807;dist=46398 NA NA intronic ENSG00000164253 NA NA NA NA NA 5q13.3 NA NA NA NA rs13176191 0.29 0.29 0.295 0.277756 0.331 0.2093 0.3213 0.27 0.273 0.33 0.24 0.35 0.26 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562126 NA NA NA NA NA 0.261 NA 3.3356667 1318 6 135524516 135524516 A G intronic MYB NA NA NA UTR3 ENSG00000118513 ENST00000527615:c.*24A>G NA NA NA NA 6q23.3 NA NA NA NA rs9385719 0.45 0.45 NA 0.474441 0.4115 0.4325 0.4539 0.6044 0.4213 0.41 0.41 0.44 0.57 0.4197 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.382224 1.382224 NA NA NA NA 0.471 NA 3.3354667 1318 12 52981676 52981676 A C intronic KRT72 NA NA NA intronic ENSG00000170486 NA NA NA NA NA 12q13.13 NA NA NA NA rs7310156 0.17 0.17 0.145 0.142372 0.2465 0.1349 0.1455 0.1127 0.0808 0.24 0.12 0.16 0.11 0.1926 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.306279 2.306279 NA 0.225465 0.13562 NA 0.225 NA 3.335435 1318 11 56507812 56507812 A G intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000181325 NA NA NA NA NA 11q12.1 NA NA NA NA rs473032 NA NA 0.914 0.987021 0.998 1 1 0.9539 0.998 NA NA NA NA NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.340699 NA NA NA NA NA 0.986 NA 3.3353333 1318 16 84255809 84255809 T C UTR3 KCNG4 NM_172347:c.*14A>G NA NA downstream ENSG00000168418 NA NA NA NA NA 16q24.1 NA NA NA NA rs56796255 0.16 0.16 0.142 0.162141 0.2276 0.0446 0.1671 0.1762 0.1933 0.24 0.04 0.17 0.17 0.2098 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32282 NA NA 0.227558 0.182273 NA 0.312 NA 3.335042 1318 1 22333595 22333595 G A intronic CELA3A NA NA NA intronic ENSG00000142789 NA NA NA NA NA 1p36.12 NA NA NA NA rs3820290 0.24 0.24 0.183 0.405751 0.665 0.2907 0.3545 0.2239 0.5399 0.43 0.07 0.28 0.12 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783058 NA NA NA NA NA 0.21 NA 3.335 1318 5 59940502 59940502 A T intronic DEPDC1B NA NA NA intronic ENSG00000035499 NA NA NA NA NA 5q12.1 NA NA NA NA rs6877561 0.73 0.73 0.746 0.69369 0.665 0.5913 0.6772 0.9614 0.4785 0.68 0.63 0.67 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288876 NA NA NA NA NA 0.775 NA 3.335 1318 7 44550545 44550545 C G intergenic NUDCD3,NPC1L1 dist=20160;dist=1590 NA NA downstream ENSG00000225443 NA NA NA NA NA 7p13 NA NA NA NA rs56314549 0.08 0.08 0.058 0.071885 0.165 0.005 0.0821 0.0174 0.1115 0.16 0.01 0.1 0.01 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.092835 NA NA NA NA NA 0.051 NA 3.335 1319 2 141473505 141473505 A T intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA Name=MafK_(ab50322) NA NA rs4954852 0.45 0.45 0.419 0.419728 0.5805 0.377 0.428 0.348 0.3896 0.57 0.4 0.46 0.32 0.5058 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492947 NA NA 0.579223 0.392192 NA 0.406 NA 3.334477 1319 15 93555717 93555717 A G intronic CHD2 NA NA NA intronic ENSG00000173575 NA NA NA NA NA 15q26.1 NA NA NA NA rs2119010 0.15 0.15 0.149 0.116813 0.2366 0.0962 0.1859 0.0454 0.0624 0.22 0.11 0.19 0.06 0.1812 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.033186 NA NA 0.247844 0.079199 NA 0.232 NA 3.334356 1319 6 69772817 69772817 C G intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA Score=579;Name=lod=300 NA 6q12 NA NA NA NA rs2793459 0.6 0.6 0.547 0.595447 0.5388 0.9653 0.7061 0.2209 0.7004 0.54 0.97 0.66 0.24 0.5895 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.011758 3.011758 NA 0.537674 0.263958 NA 0.551 NA 3.334026 1319 1 31440921 31440921 G A intronic PUM1 NA NA NA intronic ENSG00000134644 NA NA NA NA NA 1p35.2 NA NA NA NA rs4317854 0.79 0.79 0.806 0.83127 0.666 0.869 0.6715 0.9523 0.9121 0.68 0.87 0.68 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313662 NA NA NA NA NA 0.877 NA 3.334 1319 1 55336950 55336950 C G intronic DHCR24 NA NA NA intronic ENSG00000116133 NA NA NA NA NA 1p32.3 NA NA NA NA rs608458 0.55 0.55 0.531 0.578674 0.666 0.373 0.5144 0.5204 0.8252 0.69 0.39 0.56 0.53 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053879 NA NA NA NA NA 0.703 NA 3.334 1319 5 23305275 23305275 T C intergenic CDH12,PRDM9 dist=451544;dist=202449 NA NA upstream ENSG00000250332 NA NA NA NA NA 5p14.2 NA NA NA NA rs6879795 0.15 0.15 0.144 0.222045 0.166 0.125 0.2205 0.1967 0.4151 0.14 0.11 0.2 0.18 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552204 NA NA NA NA NA 0.145 NA 3.334 1319 5 23305303 23305303 A G intergenic CDH12,PRDM9 dist=451572;dist=202421 NA NA upstream ENSG00000250332 NA NA NA NA NA 5p14.2 NA NA NA NA rs6875447 0.14 0.14 0.131 0.210663 0.166 0.125 0.2161 0.1558 0.4151 0.14 0.11 0.19 0.14 NA 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588648 NA NA NA NA NA 0.13 NA 3.334 1319 5 23305356 23305356 G A intergenic CDH12,PRDM9 dist=451625;dist=202368 NA NA upstream ENSG00000250332 NA NA NA NA NA 5p14.2 NA NA NA NA rs6894054 0.14 0.14 0.116 0.210264 0.166 0.125 0.2147 0.1558 0.4141 0.14 0.11 0.19 0.14 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035839 NA NA NA NA NA 0.138 NA 3.334 1319 10 73827292 73827292 A G intronic SPOCK2 NA NA NA intronic ENSG00000107742 NA NA NA NA NA 10q22.1 NA NA NA NA rs1530804 0.68 0.68 0.69 0.65595 0.666 0.4286 0.6758 0.9644 0.4489 0.66 0.46 0.68 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533874 NA NA NA NA NA 0.754 NA 3.334 1319 11 26677867 26677867 T C intronic ANO3 NA NA NA intronic ENSG00000134343 NA NA NA NA NA 11p14.2 NA NA NA NA rs10835050 0.54 0.54 0.499 0.558906 0.666 0.5675 0.5519 0.3268 0.7587 0.68 0.53 0.54 0.32 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765826 NA NA NA NA NA 0.493 NA 3.334 1319 11 119028813 119028813 C G intronic ABCG4 NA NA NA intronic ENSG00000172350 NA NA NA NA NA 11q23.3 NA NA NA NA rs626776 0.76 0.76 0.795 0.786741 0.666 0.8978 0.4971 0.9244 0.816 0.65 0.88 0.55 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177481 NA NA NA NA NA 0.826 NA 3.334 1319 12 129500031 129500031 C A intergenic GLT1D1,TMEM132D dist=30522;dist=56240 NA NA ncRNA_exonic ENSG00000256581 NA NA NA NA NA 12q24.33 NA NA NA NA rs493149 0.76 0.76 0.757 0.764377 0.666 0.8889 0.7695 0.739 0.7679 0.67 0.9 0.74 0.75 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391153 NA NA NA NA NA 0.652 NA 3.334 1319 19 7976529 7976529 T C intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs2303700 0.63 0.63 0.603 0.602436 0.666 0.5883 0.7291 0.5303 0.5593 0.65 0.6 0.72 0.58 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090263 NA NA NA NA NA 0.572 NA 3.334 1319 7 43591955 43591955 A G intronic HECW1 NA NA NA intronic ENSG00000002746 NA NA NA NA NA 7p13 NA Name=CEBPB NA NA rs4724220 0.49 0.49 0.47 0.45028 0.5964 0.4514 0.5245 0.3064 0.4407 0.6 0.47 0.5 0.31 0.5079 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044513 NA NA 0.561946 0.342878 NA 0.493 NA 3.333754 1319 7 66582460 66582460 T A intronic TYW1 NA NA NA intronic ENSG00000198874 NA NA NA NA NA 7q11.21 NA NA NA NA rs35171532 0.23 0.23 0.223 0.270966 0.2177 0.0724 0.1974 0.475 0.3067 0.19 0.08 0.21 0.49 0.2258 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513475 NA NA 0.222843 0.404589 ID=COSM328626;OCCURENCE=4(kidney) 0.145 NA 3.333657 1319 1 121484779 121484779 G A intergenic EMBP1,NONE dist=171093;dist=NONE NA NA intergenic ENSG00000224857,NONE dist=162457;dist=NONE NA NA NA NA 1p11.2 NA NA NA NA rs4788235 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128592 NA NA NA NA NA NA NA 3.3333334 1319 1 149029149 149029149 A G intergenic LOC645166,LOC388692 dist=76095;dist=250327 NA NA intergenic ENSG00000232527,ENSG00000264022 dist=77554;dist=7163 NA NA NA NA 1q21.2 NA NA NA NA rs57759852 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895963 NA NA NA NA NA 0.225 NA 3.3333334 1319 3 141538822 141538822 C T intergenic GRK7,ATP1B3 dist=2930;dist=56648 NA NA intergenic ENSG00000114124,ENSG00000228398 dist=1490;dist=45027 NA NA NA NA 3q23 NA NA NA NA rs78193590 NA NA 0.203 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747593 NA NA NA NA NA NA NA 3.3333334 1319 4 3626290 3626290 G C intergenic FLJ35424,LOC100133461 dist=33578;dist=49030 NA NA intergenic ENSG00000216560,ENSG00000250681 dist=34559;dist=8466 NA NA NA NA 4p16.3 NA NA NA NA rs76033358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.99343 NA NA NA NA NA NA NA 3.3333334 1319 4 3626365 3626365 A G intergenic FLJ35424,LOC100133461 dist=33653;dist=48955 NA NA intergenic ENSG00000216560,ENSG00000250681 dist=34634;dist=8391 NA NA NA NA 4p16.3 NA NA NA NA rs68162223 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768935 NA NA NA NA NA 0.478 NA 3.3333334 1319 4 3626377 3626377 G T intergenic FLJ35424,LOC100133461 dist=33665;dist=48943 NA NA intergenic ENSG00000216560,ENSG00000250681 dist=34646;dist=8379 NA NA NA NA 4p16.3 NA NA NA NA rs67018563 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.120687 NA NA NA NA NA 0.486 NA 3.3333334 1319 4 3627371 3627371 G C intergenic FLJ35424,LOC100133461 dist=34659;dist=47949 NA NA intergenic ENSG00000216560,ENSG00000250681 dist=35640;dist=7385 NA NA NA NA 4p16.3 NA NA NA NA rs73205002 NA NA 0.4 NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672043 NA NA NA NA NA 0.486 NA 3.3333334 1319 4 139544632 139544632 G T intergenic LINC00499,CCRN4L dist=199134;dist=392311 NA NA intergenic ENSG00000248795,ENSG00000250977 dist=61537;dist=41247 NA NA NA NA 4q31.1 NA NA NA NA rs139550054 0.01 0.01 0.008 0.0113818 NA NA 0.0058 0.0401 NA NA NA 0.01 0.03 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.070613 NA NA NA NA NA NA NA 3.3333334 1319 4 139544796 139544796 G C intergenic LINC00499,CCRN4L dist=199298;dist=392147 NA NA intergenic ENSG00000248795,ENSG00000250977 dist=61701;dist=41083 NA NA NA NA 4q31.1 NA NA NA NA rs113605037 0.02 0.02 0.024 0.0279553 NA NA 0.0101 0.1006 NA NA NA 0.01 0.1 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.080777 NA NA NA NA NA 0.051 NA 3.3333334 1319 4 190597710 190597710 G A intergenic LOC401164,FRG1 dist=1074648;dist=264264 NA NA intergenic ENSG00000250739,ENSG00000202215 dist=15070;dist=32983 NA NA NA NA 4q35.2 NA NA NA NA rs62331390 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341057 NA NA NA NA NA 0.486 NA 3.3333334 1319 4 190597739 190597739 C G intergenic LOC401164,FRG1 dist=1074677;dist=264235 NA NA intergenic ENSG00000250739,ENSG00000202215 dist=15099;dist=32954 NA NA NA NA 4q35.2 NA NA NA NA rs5023411 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015206 NA NA NA NA NA 0.493 NA 3.3333334 1319 6 58776517 58776517 G C intergenic GUSBP4,NONE dist=488793;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=262657;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9500442 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299822 NA NA NA NA NA 0.022 NA 3.3333334 1319 6 58776821 58776821 C G intergenic GUSBP4,NONE dist=489097;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=262961;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9638020 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304275 NA NA NA NA NA 0.08 NA 3.3333334 1319 6 58776965 58776965 C T intergenic GUSBP4,NONE dist=489241;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263105;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9632509 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122493 NA NA NA NA NA 0.268 NA 3.3333334 1319 6 58777098 58777098 A T intergenic GUSBP4,NONE dist=489374;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263238;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs4330557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00042 NA NA NA NA NA 0.181 NA 3.3333334 1319 6 58777178 58777178 G T intergenic GUSBP4,NONE dist=489454;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263318;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9638022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270728 NA NA NA NA NA 0.348 NA 3.3333334 1319 6 58777295 58777295 T C intergenic GUSBP4,NONE dist=489571;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263435;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9638023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086451 NA NA NA NA NA 0.246 NA 3.3333334 1319 6 58777312 58777312 T C intergenic GUSBP4,NONE dist=489588;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263452;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9632511 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168388 NA NA NA NA NA 0.13 NA 3.3333334 1319 6 58777500 58777500 C T intergenic GUSBP4,NONE dist=489776;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263640;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs4314523 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253142 NA NA NA NA NA 0.007 NA 3.3333334 1319 6 58777573 58777573 C T intergenic GUSBP4,NONE dist=489849;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263713;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9632516 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16926 NA NA NA NA NA 0.174 NA 3.3333334 1319 6 58777666 58777666 C G intergenic GUSBP4,NONE dist=489942;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263806;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs4374848 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323714 NA NA NA NA NA 0.014 NA 3.3333334 1319 6 58777785 58777785 T C intergenic GUSBP4,NONE dist=490061;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263925;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9689742 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10007 NA NA NA NA NA 0.043 NA 3.3333334 1319 6 58777836 58777836 A C intergenic GUSBP4,NONE dist=490112;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=263976;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9632517 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086864 NA NA NA NA NA 0.565 NA 3.3333334 1319 6 58778019 58778019 T G intergenic GUSBP4,NONE dist=490295;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=264159;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9638027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11553 NA NA NA NA NA 0.225 NA 3.3333334 1319 6 58778025 58778025 A G intergenic GUSBP4,NONE dist=490301;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=264165;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9638028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137766 NA NA NA NA NA 0.268 NA 3.3333334 1319 6 58778207 58778207 G A intergenic GUSBP4,NONE dist=490483;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=264347;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs6588729 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147908 NA NA NA NA NA 0.101 NA 3.3333334 1319 6 58778649 58778649 C T intergenic GUSBP4,NONE dist=490925;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=264789;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs6421500 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390063 NA NA NA NA NA 0.036 NA 3.3333334 1319 6 58778809 58778809 A C intergenic GUSBP4,NONE dist=491085;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=264949;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs6651014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036082 NA NA NA NA NA 0.297 NA 3.3333334 1319 6 58778967 58778967 T C intergenic GUSBP4,NONE dist=491243;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=265107;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs6651012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019996 NA NA NA NA NA 0.181 NA 3.3333334 1319 6 58779097 58779097 A G intergenic GUSBP4,NONE dist=491373;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=265237;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs9500231 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018669 NA NA NA NA NA 0.123 NA 3.3333334 1319 6 58779308 58779308 T C intergenic GUSBP4,NONE dist=491584;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=265448;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs6651018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03944 NA NA NA NA NA 0.051 NA 3.3333334 1319 6 58779328 58779328 A G intergenic GUSBP4,NONE dist=491604;dist=NONE NA NA intergenic ENSG00000223633,NONE dist=265468;dist=NONE NA NA NA NA 6p11.1 NA NA NA NA rs6651019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044036 NA NA NA NA NA 0.058 NA 3.3333334 1319 7 61969087 61969087 A G intergenic NONE,ZNF733P dist=NONE;dist=782583 NA NA intergenic ENSG00000233918,ENSG00000207443 dist=146901;dist=502754 NA NA NA NA 7q11.21 NA NA NA NA rs2167859 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201835 NA NA NA NA NA NA NA 3.3333334 1319 7 142110027 142110027 T C intergenic LOC730441,MTRNR2L6 dist=137959;dist=264104 NA NA intergenic ENSG00000211732,ENSG00000211731 dist=5474;dist=1366 NA NA NA NA 7q34 NA NA NA NA rs370441521 NA NA NA 0.00519169 NA NA 0.0014 0.003 0.0215 NA NA NA NA NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826771 NA NA NA NA NA 0.174 NA 3.3333334 1319 8 144249792 144249792 G A intergenic LY6H,GPIHBP1 dist=7739;dist=45276 NA NA intergenic ENSG00000176956,ENSG00000182851 dist=7664;dist=45276 NA NA NA NA 8q24.3 NA NA NA NA rs180845927 0.38 0.38 NA NA NA NA NA NA NA 0.32 0.48 0.45 0.28 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290716 NA NA NA NA NA 0.014 NA 3.3333334 1319 10 42529432 42529432 T A intergenic NONE,LOC441666 dist=NONE;dist=297882 NA NA intergenic NONE,ENSG00000229485 dist=NONE;dist=115326 NA NA NA NA 10q11.21 NA NA NA NA rs28853943 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146128 NA NA NA NA NA NA NA 3.3333334 1319 10 42529437 42529437 T C intergenic NONE,LOC441666 dist=NONE;dist=297877 NA NA intergenic NONE,ENSG00000229485 dist=NONE;dist=115321 NA NA NA NA 10q11.21 NA NA NA NA rs201677947 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255584 NA NA NA NA NA NA NA 3.3333334 1319 10 42767319 42767319 T A intergenic NONE,LOC441666 dist=NONE;dist=59995 NA NA intergenic ENSG00000264398,ENSG00000228755 dist=36896;dist=7863 NA NA NA NA 10q11.21 NA NA NA NA rs77679807 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518267 NA NA NA NA NA NA NA 3.3333334 1319 10 42767329 42767329 G A intergenic NONE,LOC441666 dist=NONE;dist=59985 NA NA intergenic ENSG00000264398,ENSG00000228755 dist=36906;dist=7853 NA NA NA NA 10q11.21 NA NA NA NA rs61853463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071359 NA NA NA NA NA NA NA 3.3333334 1319 10 42767352 42767352 T G intergenic NONE,LOC441666 dist=NONE;dist=59962 NA NA intergenic ENSG00000264398,ENSG00000228755 dist=36929;dist=7830 NA NA NA NA 10q11.21 NA NA NA NA rs61853464 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283691 NA NA NA NA NA NA NA 3.3333334 1319 14 19123663 19123663 A G intergenic NONE,OR11H12 dist=NONE;dist=253931 NA NA intergenic ENSG00000206906,ENSG00000257171 dist=4042;dist=48440 NA NA NA NA 14q11.2 NA NA NA NA rs28587166 NA NA 0.43 NA NA NA NA NA NA NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678374 NA NA NA NA NA 0.203 NA 3.3333334 1319 14 106094493 106094493 C T intergenic TMEM121,ELK2AP dist=97954;dist=41421 NA NA intergenic ENSG00000211892,ENSG00000211893 dist=2090;dist=14896 NA NA NA NA 14q32.33 NA NA NA NA rs148961702 0.32 0.32 0.277 NA NA NA NA NA NA 0.36 0.32 0.36 0.22 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137172 NA NA NA NA NA NA NA 3.3333334 1319 14 106094521 106094521 C G intergenic TMEM121,ELK2AP dist=97982;dist=41393 NA NA intergenic ENSG00000211892,ENSG00000211893 dist=2118;dist=14868 NA NA NA NA 14q32.33 NA NA NA NA rs199718273 NA NA 0.391 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134893 NA NA NA NA NA 0.007 NA 3.3333334 1319 14 106094533 106094533 C G intergenic TMEM121,ELK2AP dist=97994;dist=41381 NA NA intergenic ENSG00000211892,ENSG00000211893 dist=2130;dist=14856 NA NA NA NA 14q32.33 NA NA NA NA rs60962705 0.48 0.48 0.47 NA NA NA NA NA NA 0.49 0.57 0.48 0.36 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097395 NA NA NA NA NA 0.022 NA 3.3333334 1319 15 20507130 20507130 T C intergenic CHEK2P2,HERC2P3 dist=10319;dist=106520 NA NA intergenic ENSG00000259156,ENSG00000258654 dist=10291;dist=42859 NA NA NA NA 15q11.1 NA NA NA NA rs28588346 NA NA 0.269 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039373 NA NA NA NA NA NA NA 3.3333334 1319 16 25303231 25303231 C T intergenic ZKSCAN2,HS3ST4 dist=34376;dist=400116 NA NA intergenic ENSG00000155592,ENSG00000261636 dist=33979;dist=127904 NA NA NA NA 16p12.1 NA NA NA NA rs8060034 0.58 0.58 0.66 NA NA NA NA NA NA 0.67 0.55 0.59 0.44 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017585 NA NA NA NA NA 0.406 NA 3.3333334 1319 16 46388407 46388407 C T intergenic NONE,ANKRD26P1 dist=NONE;dist=114842 NA NA intergenic NONE,ENSG00000261239 dist=NONE;dist=114846 NA NA NA NA 16q11.2 NA NA NA NA rs4126771 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474139 NA NA NA NA NA NA NA 3.3333334 1319 16 46400108 46400108 C G intergenic NONE,ANKRD26P1 dist=NONE;dist=103141 NA NA intergenic NONE,ENSG00000261239 dist=NONE;dist=103145 NA NA NA NA 16q11.2 NA NA NA NA rs8061098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430234 NA NA NA NA NA 0.072 NA 3.3333334 1319 16 46403723 46403723 C T intergenic NONE,ANKRD26P1 dist=NONE;dist=99526 NA NA intergenic NONE,ENSG00000261239 dist=NONE;dist=99530 NA NA NA NA 16q11.2 NA NA NA NA rs4009110 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413351 NA NA NA NA NA NA NA 3.3333334 1319 16 46404938 46404938 A G intergenic NONE,ANKRD26P1 dist=NONE;dist=98311 NA NA intergenic NONE,ENSG00000261239 dist=NONE;dist=98315 NA NA NA NA 16q11.2 NA NA NA NA rs4290498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155336 NA NA NA NA NA 0.13 NA 3.3333334 1319 16 46417296 46417296 G T intergenic NONE,ANKRD26P1 dist=NONE;dist=85953 NA NA intergenic NONE,ENSG00000261239 dist=NONE;dist=85957 NA NA NA NA 16q11.2 NA NA NA NA rs112770556 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410362 NA NA NA NA NA 0.232 NA 3.3333334 1319 17 21247540 21247540 C T intergenic MAP2K3,KCNJ12 dist=28989;dist=32159 NA NA intergenic ENSG00000034152,ENSG00000184185 dist=28988;dist=31969 NA NA NA NA 17p11.2 NA NA NA NA rs79496925 NA NA 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229179 NA NA NA NA NA NA NA 3.3333334 1319 17 21326277 21326277 C G intergenic KCNJ12,C17orf51 dist=3098;dist=105294 NA NA intergenic ENSG00000184185,ENSG00000265881 dist=3098;dist=21868 NA NA NA NA 17p11.2 NA NA NA NA rs73314001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718373 NA NA NA NA NA 0.283 NA 3.3333334 1319 17 21328210 21328210 A G intergenic KCNJ12,C17orf51 dist=5031;dist=103361 NA NA intergenic ENSG00000184185,ENSG00000265881 dist=5031;dist=19935 NA NA NA NA 17p11.2 NA NA NA NA rs1714846 NA NA 0.195 NA NA NA NA NA NA NA NA NA NA NA 0.076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612785 NA NA NA NA NA 0.058 NA 3.3333334 1319 17 21517802 21517802 G A intergenic C17orf51,FAM27L dist=62861;dist=307568 NA NA intergenic ENSG00000263375,ENSG00000265019 dist=20356;dist=18212 NA NA NA NA 17p11.2 NA NA NA NA rs35259287 NA NA 0.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158063 NA NA NA NA NA NA NA 3.3333334 1319 17 21517885 21517885 G A intergenic C17orf51,FAM27L dist=62944;dist=307485 NA NA intergenic ENSG00000263375,ENSG00000265019 dist=20439;dist=18129 NA NA NA NA 17p11.2 NA NA NA NA rs73980741 NA NA NA 0.000399361 NA 0.001 NA NA 0.001 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279753 NA NA NA NA NA 0.109 NA 3.3333334 1319 17 21518782 21518782 C G intergenic C17orf51,FAM27L dist=63841;dist=306588 NA NA intergenic ENSG00000263375,ENSG00000265019 dist=21336;dist=17232 NA NA NA NA 17p11.2 NA NA NA NA rs77153579 NA NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.292177 NA NA NA NA NA NA NA 3.3333334 1319 17 21518906 21518906 C A intergenic C17orf51,FAM27L dist=63965;dist=306464 NA NA intergenic ENSG00000263375,ENSG00000265019 dist=21460;dist=17108 NA NA NA NA 17p11.2 NA NA NA NA rs73313260 NA NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637834 NA NA NA NA NA NA NA 3.3333334 1319 20 26078778 26078778 A G intergenic FAM182A,NCOR1P1 dist=11225;dist=5274 NA NA intergenic ENSG00000125804,ENSG00000240108 dist=5095;dist=5274 NA NA NA NA 20p11.1 NA NA NA NA rs78847942 NA NA 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830057 NA NA NA NA NA NA NA 3.3333334 1319 20 26078794 26078794 G A intergenic FAM182A,NCOR1P1 dist=11241;dist=5258 NA NA intergenic ENSG00000125804,ENSG00000240108 dist=5111;dist=5258 NA NA NA NA 20p11.1 NA NA NA NA rs200528674 NA NA 0.478 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610979 NA NA NA NA NA NA NA 3.3333334 1319 21 9866106 9866106 T A intergenic MIR3687,TEKT4P2 dist=39843;dist=41083 NA NA intergenic ENSG00000264063,ENSG00000188681 dist=39843;dist=41084 NA NA NA NA 21p11.2 NA NA NA NA rs6824302 NA NA 0.501 NA NA NA NA NA NA NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.003267 NA NA NA NA NA 0.058 NA 3.3333334 1319 21 10614048 10614048 G T intergenic TEKT4P2,TPTE dist=645455;dist=292695 NA NA intergenic ENSG00000270533,ENSG00000169861 dist=137987;dist=248574 NA NA NA NA 21p11.2 NA NA NA NA rs4072083 NA NA 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803132 NA NA NA NA NA NA NA 3.3333334 1319 21 10624119 10624119 G A intergenic TEKT4P2,TPTE dist=655526;dist=282624 NA NA intergenic ENSG00000270533,ENSG00000169861 dist=148058;dist=238503 NA NA NA NA 21p11.2 NA NA NA NA rs71215809 NA NA 0.552 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.012912 NA NA NA NA NA 0.029 NA 3.3333334 1319 21 10624139 10624139 C T intergenic TEKT4P2,TPTE dist=655546;dist=282604 NA NA intergenic ENSG00000270533,ENSG00000169861 dist=148078;dist=238483 NA NA NA NA 21p11.2 NA NA NA NA rs71215808 NA NA 0.223 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831082 NA NA NA NA NA 0.036 NA 3.3333334 1319 21 10624154 10624154 G A intergenic TEKT4P2,TPTE dist=655561;dist=282589 NA NA intergenic ENSG00000270533,ENSG00000169861 dist=148093;dist=238468 NA NA NA NA 21p11.2 NA NA NA NA rs1928601 NA NA 0.256 NA NA NA NA NA NA NA NA NA NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743812 NA NA NA NA NA 0.036 NA 3.3333334 1319 21 10885303 10885303 G A intergenic TEKT4P2,TPTE dist=916710;dist=21440 NA NA intergenic ENSG00000235476,ENSG00000223925 dist=12874;dist=13779 NA NA NA NA 21p11.2 NA NA NA NA rs59109662 NA NA 0.199 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563773 NA NA NA NA NA NA NA 3.3333334 1319 X 106296438 106296438 G A intergenic MORC4,RBM41 dist=52964;dist=8680 NA NA intergenic ENSG00000231144,ENSG00000089682 dist=20388;dist=11212 NA NA NA NA Xq22.3 NA NA NA NA rs201227745 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050966 NA NA NA NA NA NA NA 3.3333334 1319 X 106296453 106296453 A T intergenic MORC4,RBM41 dist=52979;dist=8665 NA NA intergenic ENSG00000231144,ENSG00000089682 dist=20403;dist=11197 NA NA NA NA Xq22.3 NA NA NA NA rs199511300 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881699 NA NA NA NA NA NA NA 3.3333334 1319 Y 13266499 13266499 A G intergenic NONE,GYG2P1 dist=NONE;dist=1251416 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=2936;dist=73860 NA NA NA NA Yq11.1 NA NA NA NA rs4242830 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.045702 NA NA NA NA NA NA NA 3.3333334 1319 Y 13310740 13310740 G A intergenic NONE,GYG2P1 dist=NONE;dist=1207175 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=47177;dist=29619 NA NA NA NA Yq11.1 NA NA NA NA rs75526384 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762956 NA NA NA NA NA NA NA 3.3333334 1319 Y 13310768 13310768 G C intergenic NONE,GYG2P1 dist=NONE;dist=1207147 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=47205;dist=29591 NA NA NA NA Yq11.1 NA NA NA NA rs79431658 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054238 NA NA NA NA NA NA NA 3.3333334 1319 Y 13310775 13310775 A G intergenic NONE,GYG2P1 dist=NONE;dist=1207140 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=47212;dist=29584 NA NA NA NA Yq11.1 NA NA NA NA rs79927335 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.003926 NA NA NA NA NA NA NA 3.3333334 1319 Y 13310784 13310784 T G intergenic NONE,GYG2P1 dist=NONE;dist=1207131 NA NA intergenic ENSG00000270570,ENSG00000263502 dist=47221;dist=29575 NA NA NA NA Yq11.1 NA NA NA NA rs75891039 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083873 NA NA NA NA NA NA NA 3.3333334 1319 Y 13537392 13537392 A T intergenic NONE,GYG2P1 dist=NONE;dist=980523 NA NA intergenic ENSG00000183704,ENSG00000270242 dist=12675;dist=13983 NA NA NA NA Yq11.21 NA NA NA NA rs62604956 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.940018 NA NA NA NA NA NA NA 3.3333334 1319 Y 13541454 13541454 T C intergenic NONE,GYG2P1 dist=NONE;dist=976461 NA NA intergenic ENSG00000183704,ENSG00000270242 dist=16737;dist=9921 NA NA NA NA Yq11.21 NA NA NA NA rs75007464 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.176034 NA NA NA NA NA NA NA 3.3333334 1319 3 174974177 174974177 C G intronic NAALADL2 NA NA NA ncRNA_intronic ENSG00000226779 NA NA NA NA NA 3q26.31 NA NA NA NA rs13072102 0.26 0.26 0.246 0.247404 0.3419 0.3343 0.1844 0.031 0.3978 0.35 0.36 0.22 0.03 0.3233 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.418901 3.418901 NA 0.335011 0.089532 NA 0.145 NA 3.3331223 1319 1 145355624 145355624 C T intronic NBPF10,NBPF9 NA NA NA intronic ENSG00000163386 NA NA NA NA NA 1q21.1 NA NA NA NA rs142055197 NA NA 0.326 0.695687 0.667 0.6091 0.7089 0.8336 0.6186 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.865308 NA NA NA NA NA NA NA 3.333 1319 2 242617792 242617792 A G intronic DTYMK NA NA NA intronic ENSG00000168393 NA NA NA NA NA 2q37.3 NA NA NA NA rs4076640 0.58 0.58 0.544 0.544529 0.667 0.4921 0.7104 0.4357 0.502 0.67 0.5 0.69 0.46 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750964 NA NA NA NA NA 0.536 NA 3.333 1319 5 176005175 176005175 A C intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs1565150 0.53 0.53 0.51 0.498802 0.667 0.37 0.6614 0.4032 0.4724 0.68 0.35 0.71 0.38 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049672 NA NA NA NA NA 0.42 NA 3.333 1319 7 4217969 4217969 T A intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs649494 0.63 0.63 0.603 0.593051 0.667 0.7083 0.7089 0.3737 0.6125 0.68 0.74 0.71 0.36 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501023 NA NA NA NA NA 0.638 NA 3.333 1319 17 17719503 17719503 G T intronic SREBF1 NA NA NA intronic ENSG00000072310 NA NA NA NA NA 17p11.2 NA NA NA NA rs7501788 NA NA NA 0.573882 0.5875 0.5933 0.5879 0.559 0.5501 NA NA NA NA 0.0795 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.491617 NA NA NA NA NA 0.022 NA 3.333 1319 20 29873114 29873114 G T intergenic DEFB115,DEFB116 dist=25679;dist=17901 NA NA downstream ENSG00000224628 NA NA NA NA NA 20q11.21 NA NA NA NA rs41293110 0.09 0.09 0.074 0.0692891 0.167 NA 0.1052 0.0461 0.046 0.18 NA 0.11 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315226 NA NA NA NA NA 0.123 NA 3.333 1319 6 76744298 76744298 C T intronic IMPG1 NA NA NA intronic ENSG00000112706 NA NA NA NA NA 6q14.1 NA NA NA NA rs2274348 0.22 0.22 0.17 0.177516 0.2256 0.3125 0.2277 0.0439 0.1339 0.23 0.31 0.25 0.05 0.2126 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054624 NA NA 0.228837 0.075125 NA 0.174 NA 3.332963 1319 17 48273439 48273439 T C intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA Name=Pol2 NA NA rs2734281 0.79 0.79 0.822 0.792532 0.836 0.5635 0.7939 0.9463 0.7751 0.84 0.57 0.8 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208552 NA NA 0.831238 0.932803 NA 0.833 NA 3.332762 1319 1 211276828 211276828 C T intronic KCNH1 NA NA NA intronic ENSG00000143473 NA NA NA NA NA 1q32.2 NA NA NA NA rs3762452 0.17 0.17 0.159 0.145168 0.2416 0.0942 0.1167 0.1293 0.1401 0.24 0.09 0.14 0.16 0.1931 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.50618 2.50618 NA 0.232666 0.140781 NA 0.13 NA 3.332634 1319 19 43243248 43243248 G A intronic PSG3 NA NA NA intronic ENSG00000221826 NA NA NA Score=304;Name=lod=23 NA 19q13.2 NA NA NA NA rs12185500 0.59 0.59 0.5 0.656749 0.5507 0.4772 0.6571 0.8911 0.6339 0.55 0.42 0.62 0.85 0.5903 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000386 NA NA 0.526395 0.816076 NA 0.442 NA 3.332605 1319 17 1783812 1783812 T C intronic RPA1 NA NA NA intronic ENSG00000132383 NA NA NA NA NA 17p13.3 NA NA NA NA rs2277694 0.19 0.19 0.169 0.171925 0.2237 0.1567 0.2651 0.1377 0.1145 0.21 0.18 0.27 0.13 0.2118 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196186 NA NA 0.231977 0.170222 NA 0.283 NA 3.332523 1319 10 43349261 43349261 G C intergenic BMS1,MIR5100 dist=18876;dist=143750 NA NA intergenic ENSG00000252416,ENSG00000234944 dist=21263;dist=17708 NA NA NA NA 10q11.21 NA NA NA NA rs148402205 0.0027 0.0027 0.002 0.0061901 0.001 NA 0.0058 0.0197 NA NA NA 0.01 0.01 NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908782 NA NA NA NA NA 0.007 NA 3.3323334 1319 18 49224921 49224921 G A intergenic LOC100287225,DCC dist=136082;dist=641621 NA NA intergenic ENSG00000265712,ENSG00000215457 dist=10342;dist=146456 NA NA NA NA 18q21.2 NA NA NA NA rs190062327 0.01 0.01 NA 0.0061901 0.001 NA 0.0058 0.0197 NA 0.0013 0.01 0.0028 0.02 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788398 NA NA NA NA NA NA NA 3.3323334 1319 2 89309424 89309424 G A intergenic MIR4436A,NONE dist=197456;dist=NONE NA NA downstream ENSG00000241755 NA NA NA NA NA 2p11.2 NA NA NA NA rs10205742 0.34 0.34 0.369 0.361022 0.168 0.4097 0.317 0.5159 0.3313 0.16 0.45 0.28 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007598 NA NA NA NA ID=COSN166174;OCCURENCE=1(breast) 0.239 NA 3.332 1319 6 16290862 16290862 T C intronic GMPR NA NA NA intronic ENSG00000137198 NA NA NA NA NA 6p22.3 NA NA NA NA rs6926552 0.21 0.21 0.183 0.257188 0.2107 0.0298 0.2392 0.4561 0.2832 0.2 0.03 0.21 0.42 0.2461 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87564 NA NA 0.211744 0.424648 NA 0.167 NA 3.331456 1319 14 88971758 88971758 T G intronic PTPN21 NA NA NA ncRNA_intronic ENSG00000258983 NA NA NA NA NA 14q31.3 NA NA NA NA rs2274735 0.4 0.4 0.436 0.43111 0.3022 0.3889 0.2911 0.6157 0.4571 0.31 0.36 0.3 0.65 0.3556 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056717 NA NA 0.344346 0.57584 NA 0.514 NA 3.3311873 1319 1 16358148 16358148 T C intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs2015509 0.76 0.76 0.749 0.749201 0.669 0.9742 0.5951 0.7693 0.682 0.67 0.98 0.61 0.77 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743145 NA NA NA NA NA 0.732 NA 3.331 1319 11 58604712 58604712 T C intronic GLYATL2 NA NA NA intronic ENSG00000156689 NA NA NA NA NA 11q12.1 NA NA NA NA rs11229653 0.31 0.31 0.271 0.336262 0.2018 0.4841 0.3242 0.2958 0.3855 0.23 0.46 0.27 0.28 0.2761 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686429 NA NA 0.191819 0.280574 NA 0.261 NA 3.330281 1319 19 19824850 19824850 T G intronic ZNF14 NA NA NA intronic ENSG00000105708 NA NA NA NA NA 19p13.11 NA NA NA NA rs11085270 0.21 0.21 0.209 0.188099 0.2465 0.2331 0.1628 0.1528 0.1472 0.25 0.2 0.18 0.19 0.2021 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556188 NA NA 0.221163 0.149796 NA 0.145 NA 3.330237 1319 7 149981830 149981830 T G intronic ACTR3C NA NA NA intronic ENSG00000106526 NA NA NA Score=547;Name=lod=222 NA 7q36.1 NA NA NA NA rs4725334 NA NA 0.901 0.926717 0.8022 0.9841 0.8818 0.9887 0.9438 NA NA NA NA 0.8676 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577525 NA NA NA NA NA 0.942 NA 3.3302 1319 2 1667310 1667310 G A intronic PXDN NA NA NA intronic ENSG00000130508 NA NA NA NA NA 2p25.3 NA NA NA NA rs12475392 0.83 0.83 0.825 0.852835 0.67 0.9782 0.7954 0.9244 0.8558 0.68 0.98 0.78 0.91 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213596 NA NA NA NA NA 0.812 NA 3.33 1319 5 173258 173258 A G intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA NA NA NA rs6893369 0.52 0.52 0.532 0.539537 0.67 0.2698 0.5389 0.5825 0.6258 0.67 0.27 0.57 0.56 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018597 NA NA NA NA NA 0.674 NA 3.33 1319 19 15075020 15075020 A G intronic SLC1A6 NA NA NA intronic ENSG00000105143 NA NA NA NA NA 19p13.12 NA NA NA NA rs10407669 0.73 0.73 0.726 0.755591 0.67 0.7222 0.7262 0.8684 0.7464 0.66 0.71 0.72 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.851336 1.851336 NA NA NA NA 0.775 NA 3.33 1319 9 33036550 33036550 A G intronic DNAJA1 NA NA NA intronic ENSG00000086061 NA NA NA NA NA 9p21.1 NA NA NA NA rs2297215 0.16 0.16 0.141 0.137181 0.2475 0.0317 0.196 0.1422 0.0838 0.24 0.05 0.22 0.11 0.1908 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747757 NA NA 0.231744 0.1532 NA 0.283 NA 3.329956 1319 19 54940471 54940471 C T intronic TTYH1 NA NA NA intronic ENSG00000167614 NA NA NA NA NA 19q13.42 NA NA NA NA rs889149 0.17 0.17 0.179 0.155152 0.2276 0.1052 0.1945 0.0885 0.1943 0.22 0.1 0.23 0.11 0.2032 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394462 NA NA 0.239651 0.100999 NA 0.13 NA 3.329549 1319 15 82523358 82523358 G A intronic EFTUD1 NA NA NA intronic ENSG00000140598 NA NA NA NA NA 15q25.2 NA NA NA NA rs11073036 0.24 0.24 0.227 0.267173 0.2187 0.1696 0.2176 0.292 0.4192 0.23 0.18 0.23 0.31 0.2464 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569493 NA NA 0.205449 0.287309 NA 0.304 NA 3.329451 1319 2 131024421 131024421 C T intergenic TUBA3E,CCDC115 dist=68387;dist=71395 NA NA intergenic ENSG00000236595,ENSG00000237722 dist=14289;dist=3748 NA NA NA NA 2q21.1 NA NA NA NA rs6712541 0.03 0.03 0.03 0.0405351 0.004 NA 0.0245 0.1377 NA 0.004 NA 0.02 0.11 NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759806 NA NA NA NA NA 0.043 NA 3.3293334 1319 1 13937089 13937089 G T intronic PDPN NA NA NA intronic ENSG00000162493 NA NA NA NA NA 1p36.21 NA NA NA NA rs2487643 0.65 0.65 0.632 0.661741 0.671 0.5526 0.8026 0.6301 0.7076 0.68 0.55 0.78 0.63 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365162 NA NA NA NA NA 0.652 NA 3.329 1319 1 120293367 120293367 T C intronic HMGCS2 NA NA NA intronic ENSG00000134240 NA NA NA NA NA 1p12 NA NA NA NA rs667246 0.68 0.68 0.667 0.688698 0.671 0.6429 0.7378 0.6369 0.7894 0.64 0.66 0.76 0.71 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55098 NA NA NA NA NA 0.79 NA 3.329 1319 1 229438828 229438828 G A intronic RAB4A NA NA NA intronic ENSG00000168118 NA NA NA NA NA 1q42.13 NA NA NA NA rs237787 0.64 0.64 0.616 0.605032 0.671 0.4921 0.6455 0.7171 0.4734 0.66 0.53 0.65 0.7 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227709 NA NA NA NA NA 0.746 NA 3.329 1319 6 158068481 158068481 T C intronic ZDHHC14 NA NA NA intronic ENSG00000175048 NA NA NA NA NA 6q25.3 NA NA NA NA rs616538 0.75 0.75 0.748 0.765775 0.671 0.7123 0.7839 0.8903 0.7372 0.68 0.72 0.76 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324318 NA NA NA NA NA 0.717 NA 3.329 1319 16 16108282 16108282 T C intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs4148337 0.53 0.53 0.54 0.536542 0.671 0.376 0.6398 0.5855 0.4243 0.64 0.33 0.62 0.54 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48688 NA NA NA NA ID=COSN165125;OCCURENCE=1(breast) 0.514 NA 3.329 1319 18 72234337 72234337 A C intronic CNDP1 NA NA NA intronic ENSG00000150656 NA NA NA NA NA 18q22.3 NA NA NA NA rs4891562 0.48 0.48 0.465 0.465655 0.671 0.4038 0.5202 0.298 0.5061 0.67 0.34 0.49 0.32 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.013265 NA NA NA NA NA 0.543 NA 3.329 1319 19 15064858 15064858 A C intronic SLC1A6 NA NA NA intronic ENSG00000105143 NA NA NA NA NA 19p13.12 NA NA NA NA rs2269913 0.73 0.73 0.723 0.757188 0.671 0.7222 0.732 0.8707 0.7464 0.66 0.71 0.72 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362601 NA NA NA NA NA 0.761 NA 3.329 1319 11 89402687 89402687 T C intronic FOLH1B NA NA NA ncRNA_intronic ENSG00000134612 NA NA NA NA NA 11q14.3 NA NA NA NA rs11018718 0.23 0.23 0.164 0.216454 0.3718 0.1319 0.2435 0.1293 0.2423 0.35 0.13 0.27 0.14 0.3135 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.716907 2.716907 NA 0.319134 0.143798 NA 0.065 NA 3.3288993 1319 9 117108122 117108122 C T intronic AKNA NA NA NA intronic ENSG00000106948 NA NA NA NA NA 9q32 NA NA NA NA rs3762054 0.18 0.18 0.16 0.184704 0.2247 0.2292 0.2061 0.0537 0.2597 0.22 0.21 0.2 0.06 0.2134 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220385 NA NA 0.233372 0.0867 NA 0.174 NA 3.328528 1319 3 108117359 108117359 C T intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs71633456 NA NA NA 0.572085 0.672 0.4563 0.5807 0.534 0.6339 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334789 NA NA NA NA NA NA NA 3.328 1319 17 38253228 38253228 T C intronic NR1D1 NA NA NA intronic ENSG00000126368 NA NA NA NA NA 17q21.1 NA NA NA NA rs2102928 0.81 0.81 0.816 0.8127 0.672 0.8284 0.83 0.9826 0.6994 0.68 0.86 0.79 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325534 NA NA NA NA NA 0.746 NA 3.328 1319 19 19454828 19454828 G A intronic MAU2 NA NA NA intronic ENSG00000129933 NA NA NA NA NA 19p13.11 NA NA NA NA rs2965193 0.57 0.57 0.574 0.523762 0.672 0.6677 0.5389 0.3464 0.4519 0.68 0.66 0.55 0.33 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283383 NA NA NA NA NA 0.5 NA 3.328 1319 2 27532870 27532870 A G intronic MPV17 NA NA NA intronic ENSG00000115204 NA NA NA NA NA 2p23.3 NA NA NA NA rs62130714 0.23 0.23 0.219 0.270767 0.2068 0.1607 0.3573 0.298 0.3517 0.22 0.13 0.31 0.32 0.2574 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327067 NA NA 0.208023 0.262143 NA 0.268 NA 3.327777 1319 12 117595930 117595930 G A intronic FBXO21 NA NA NA intronic ENSG00000135108 NA NA NA NA NA 12q24.22 NA NA NA NA rs2279765 0.21 0.21 0.205 0.222244 0.2177 0.4226 0.1715 0.0272 0.32 0.21 0.38 0.19 0.04 0.2377 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00221 NA NA 0.217346 0.056111 NA 0.188 NA 3.327254 1319 3 182858461 182858461 A G intronic LAMP3 NA NA NA intronic ENSG00000078081 NA NA NA NA NA 3q27.1 NA NA NA NA rs831256 0.53 0.53 0.51 0.516973 0.673 0.4722 0.4841 0.3563 0.6431 0.66 0.5 0.5 0.38 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313151 NA NA NA NA ID=COSN167097;OCCURENCE=1(large_intestine) 0.478 NA 3.327 1319 5 6605271 6605271 G A intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs506416 0.72 0.72 0.746 0.716853 0.673 0.6736 0.6297 0.8896 0.635 0.66 0.68 0.67 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018666 NA NA NA NA NA 0.746 NA 3.327 1319 11 94203868 94203868 A T intronic MRE11A NA NA NA intronic ENSG00000020922 NA NA NA NA NA 11q21 NA NA NA NA rs610611 0.71 0.71 0.695 0.724441 0.673 0.7173 0.67 0.7602 0.7751 0.65 0.74 0.7 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014346 NA NA NA NA NA 0.638 NA 3.327 1319 12 8376470 8376470 A G intronic FAM90A1 NA NA NA intronic ENSG00000171847 NA NA NA NA NA 12p13.31 NA NA NA NA rs7310126 0.52 0.52 0.523 0.458866 0.673 0.5665 0.5115 0.2103 0.4264 0.68 0.56 0.54 0.23 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378816 NA NA NA NA NA 0.442 NA 3.327 1319 16 24883306 24883306 A C intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs2547037 0.71 0.71 0.678 0.723243 0.673 0.7054 0.8098 0.6838 0.7853 0.65 0.74 0.81 0.71 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405525 NA NA NA NA NA 0.732 NA 3.327 1319 17 55962465 55962465 T C intronic CUEDC1 NA NA NA intronic ENSG00000180891 NA NA NA NA NA 17q22 NA NA NA NA rs2586051 0.74 0.74 0.717 0.732628 0.673 0.9931 0.6772 0.5756 0.7771 0.68 1 0.7 0.58 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079423 NA NA NA NA NA 0.696 NA 3.327 1319 3 50255663 50255663 C T intronic SLC38A3 NA NA NA ncRNA_intronic ENSG00000188338 NA NA NA NA NA 3p21.31 NA NA NA NA rs35926495 0.18 0.18 0.165 0.159345 0.3519 0.0496 0.2176 0.0182 0.2239 0.35 0.03 0.25 0.03 0.2788 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234738 NA NA 0.375665 0.064344 NA 0.138 NA 3.3269683 1319 9 114467478 114467478 T C intronic C9orf84 NA NA NA intronic ENSG00000165181 NA NA NA NA NA 9q31.3 NA NA NA NA rs28545063 0.48 0.48 NA 0.411741 0.4294 0.7113 0.549 0.1467 0.3456 0.44 0.74 0.56 0.18 0.2438 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285523 NA NA NA NA NA 0.007 NA 3.3268 1319 7 44561600 44561600 A G intronic NPC1L1 NA NA NA intronic ENSG00000015520 NA NA NA NA NA 7p13 NA NA NA NA rs217421 0.16 0.16 0.149 0.154553 0.2266 0.005 0.1383 0.2489 0.1186 0.21 0.01 0.18 0.25 0.2065 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26957 NA NA 0.240233 0.253064 NA 0.167 NA 3.326667 1319 8 124664792 124664792 C T exonic KLHL38 NA synonymous SNV KLHL38:NM_001081675:exon1:c.G375A:p.S125S exonic ENSG00000175946 NA synonymous SNV ENSG00000175946:ENST00000325995:exon1:c.G375A:p.S125S NA NA 8q24.13 NA NA NA NA rs7387544 0.72 0.72 0.742 0.708466 0.8022 0.7113 0.6902 0.6657 0.68 0.8 0.7 0.69 0.64 0.7494 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561979 NA NA 0.788499 0.708187 NA 0.797 NA 3.3265676 1319 10 3146155 3146155 C G intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs2306293 0.21 0.21 0.188 0.205871 0.2435 0.1478 0.1297 0.2995 0.1544 0.24 0.15 0.15 0.27 0.213 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75048 NA NA 0.217093 0.259873 NA 0.239 NA 3.326407 1319 1 116226459 116226459 C T intronic VANGL1 NA NA NA intronic ENSG00000173218 NA NA NA NA NA 1p13.1 NA NA NA NA rs12144356 0.7 0.7 0.702 0.696286 0.674 0.7202 0.7594 0.5976 0.7832 0.68 0.74 0.77 0.62 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395057 NA NA NA NA NA 0.71 NA 3.326 1319 5 119016908 119016908 T C intergenic FAM170A,PRR16 dist=45391;dist=783111 NA NA downstream ENSG00000234259 NA NA NA NA NA 5q23.1 NA NA NA NA rs874886 0.13 0.13 0.129 0.138778 0.174 0.0804 0.1138 0.1104 0.2188 0.18 0.07 0.13 0.12 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558773 NA NA NA NA NA 0.101 NA 3.326 1319 8 2040415 2040415 G A intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs893877 0.57 0.57 0.528 0.574681 0.674 0.6488 0.7493 0.2171 0.7556 0.66 0.63 0.76 0.22 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257942 NA NA NA NA NA 0.63 NA 3.326 1319 9 84674796 84674796 A G intergenic SPATA31D1,RASEF dist=64625;dist=919704 NA NA ncRNA_exonic ENSG00000231649 NA NA NA NA NA 9q21.32 NA NA NA NA rs10867829 0.84 0.84 0.82 0.857827 0.674 0.999 0.8184 0.9841 0.7587 0.67 1 0.79 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159486 NA NA NA NA NA 0.71 NA 3.326 1319 16 105325 105325 G A intronic SNRNP25 NA NA NA intronic ENSG00000161981 NA NA NA NA NA 16p13.3 NA NA NA NA rs2858042 0.57 0.57 0.514 0.547125 0.674 0.6002 0.5821 0.3585 0.592 0.68 0.56 0.62 0.36 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487724 NA NA NA NA NA 0.565 NA 3.326 1319 3 148562425 148562425 C G intronic CPB1 NA NA NA intronic ENSG00000153002 NA NA NA NA NA 3q24 NA NA NA NA rs9835098 0.21 0.21 0.202 0.199281 0.2306 0.249 0.2118 0.1679 0.1493 0.22 0.25 0.2 0.17 0.2135 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483887 NA NA 0.230286 0.169542 NA 0.196 NA 3.325614 1319 8 1817314 1817314 G C intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA NA NA rs7003839 0.24 0.24 0.231 0.198482 0.2157 0.3681 0.2003 0.0794 0.1656 0.23 0.41 0.19 0.09 0.223 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.344018 NA NA 0.235698 0.098729 NA 0.167 NA 3.325602 1319 16 74921661 74921661 A T intronic WDR59 NA NA NA intronic ENSG00000103091 NA NA NA NA NA 16q23.1 NA NA NA NA rs9940014 0.17 0.17 0.175 0.161142 0.2366 0.0198 0.1398 0.233 0.1472 0.23 0.01 0.16 0.26 0.2049 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554794 NA NA 0.233023 0.227025 NA 0.174 NA 3.325477 1319 11 104846195 104846195 C T intergenic CASP4,CASP5 dist=6870;dist=18772 NA NA intergenic ENSG00000196954,ENSG00000137757 dist=6032;dist=18767 NA NA NA NA 11q22.3 NA NA NA NA rs151335900 0.01 0.01 0.004 0.00539137 0.008 0.001 0.0144 0.0008 0.0072 0.01 0.0017 0.01 NA NA 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014214 NA NA NA NA NA 0.007 NA 3.3253334 1319 1 116225180 116225180 A C intronic VANGL1 NA NA NA intronic ENSG00000173218 NA NA NA NA NA 1p13.1 NA NA NA NA rs10923177 0.68 0.68 0.648 0.680511 0.675 0.7202 0.7522 0.5393 0.7853 0.68 0.74 0.76 0.54 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696889 NA NA NA NA NA 0.71 NA 3.325 1319 11 133994276 133994276 G A intronic JAM3 NA NA NA intronic ENSG00000166086 NA NA NA NA NA 11q25 NA NA NA NA rs470952 0.84 0.84 0.845 0.854233 0.675 0.9544 0.8646 0.9629 0.7812 0.68 0.96 0.87 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328849 NA NA NA NA NA 0.87 NA 3.325 1319 13 103339194 103339194 G A intronic METTL21C NA NA NA intronic ENSG00000139780 NA NA NA NA NA 13q33.1 NA NA NA NA rs641652 0.62 0.62 0.654 0.590855 0.675 0.5605 0.5403 0.5696 0.6002 0.7 0.6 0.57 0.56 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320382 NA NA NA NA NA 0.616 NA 3.325 1319 14 94109829 94109829 G A intronic UNC79 NA NA NA intronic ENSG00000133958 NA NA NA NA NA 14q32.12 NA NA NA NA rs943318 0.56 0.56 0.551 0.538139 0.675 0.3938 0.6801 0.4478 0.5675 0.68 0.4 0.72 0.46 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222878 NA NA NA NA NA 0.638 NA 3.325 1319 18 8798374 8798374 G A intronic SOGA2 NA NA NA intronic ENSG00000168502 NA NA NA NA NA 18p11.22 NA NA NA NA rs606431 0.68 0.68 0.67 0.662141 0.675 0.5913 0.8141 0.7103 0.5491 0.66 0.6 0.8 0.72 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324546 NA NA NA NA NA 0.551 NA 3.325 1320 12 132962932 132962932 G C intergenic GALNT9,FBRSL1 dist=57027;dist=104225 NA NA intergenic ENSG00000255916,ENSG00000256783 dist=54771;dist=70814 NA NA NA NA 12q24.33 NA NA NA NA rs77940778 0.05 0.05 0.025 0.0601038 0.0089 0.1409 0.0893 0.0008 0.089 0.01 0.13 0.1 0.002 NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892268 NA NA NA NA NA NA NA 3.3244334 1320 1 16959101 16959101 C T intergenic CROCCP2,MST1P2 dist=1700;dist=12968 NA NA ncRNA_intronic ENSG00000215908 NA NA NA NA NA 1p36.13 NA NA NA NA rs698884 NA NA 0.754 0.755791 0.6759 0.8661 0.7061 0.8374 0.6493 NA NA NA NA NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776058 NA NA NA NA NA 0.659 NA 3.3241 1320 14 106926060 106926060 C A intergenic LINC00226,LINC00221 dist=181094;dist=12395 NA NA downstream ENSG00000232216 NA NA NA NA NA 14q32.33 NA NA NA NA rs4977151 0.1 0.1 0.08 0.0870607 0.1759 NA 0.0893 0.1112 0.0511 0.18 0.0017 0.09 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907171 NA NA NA NA NA 0.094 NA 3.3241 1320 17 37829570 37829570 C G intronic PGAP3 NA NA NA intronic ENSG00000161395 NA NA NA NA NA 17q12 NA NA NA NA rs903504 0.48 0.48 0.455 0.475639 0.6759 0.4018 0.5086 0.2337 0.6493 0.65 0.45 0.51 0.21 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681685 NA NA NA NA NA NA NA 3.3241 1320 17 37829571 37829571 C A intronic PGAP3 NA NA NA intronic ENSG00000161395 NA NA NA NA NA 17q12 NA NA NA NA rs903503 0.48 0.48 0.449 0.475639 0.6759 0.4018 0.5086 0.2337 0.6493 0.65 0.45 0.51 0.21 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344367 NA NA NA NA NA NA NA 3.3241 1320 17 37829604 37829604 C T intronic PGAP3 NA NA NA intronic ENSG00000161395 NA NA NA NA NA 17q12 NA NA NA NA rs903502 0.5 0.5 0.495 0.474641 0.6759 0.4018 0.5072 0.23 0.6503 0.68 0.48 0.52 0.23 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.239822 3.239822 NA NA NA NA 0.493 NA 3.3241 1320 2 198263146 198263146 T C intronic SF3B1 NA NA NA intronic ENSG00000115524 NA NA NA NA NA 2q33.1 NA NA NA NA rs16865262 0.2 0.2 0.212 0.157348 0.2505 0.25 0.1916 0.0507 0.0859 0.24 0.27 0.2 0.05 0.1988 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918496 NA NA 0.227209 0.089424 NA 0.123 NA 3.323491 1320 3 190106242 190106242 T C intronic CLDN16 NA NA NA intronic ENSG00000113946 NA NA NA NA NA 3q28 NA NA NA NA rs1491994 0.14 0.14 0.134 0.117212 0.2336 0.0208 0.1455 0.0681 0.1431 0.23 0.03 0.19 0.09 0.1949 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807171 NA NA 0.248023 0.087608 NA 0.203 NA 3.323477 1320 14 89307320 89307320 T C intronic TTC8 NA NA NA intronic ENSG00000165533 NA NA NA NA NA 14q31.3 NA NA NA NA rs17700296 0.21 0.21 0.194 0.188698 0.2207 0.3304 0.2061 0.0779 0.1472 0.23 0.32 0.22 0.07 0.2115 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477911 NA NA 0.244419 0.108261 NA 0.225 NA 3.323381 1320 6 152555112 152555112 C T intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs2296254 0.22 0.22 0.173 0.208866 0.2227 0.2401 0.4049 0.0514 0.2362 0.21 0.24 0.38 0.08 0.2374 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890225 NA NA 0.216744 0.075125 ID=COSN167908;OCCURENCE=2(large_intestine),1(endometrium) 0.225 NA 3.323156 1320 3 53806803 53806803 G C intronic CACNA1D NA NA NA intronic ENSG00000157388 NA NA NA NA NA 3p21.1 NA NA NA NA rs2278517 0.59 0.59 0.589 0.545927 0.6769 0.3323 0.6153 0.7269 0.3374 0.69 0.31 0.62 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289272 NA NA NA NA NA 0.63 NA 3.3231 1320 6 76063133 76063133 A G intronic FILIP1 NA NA NA intronic ENSG00000118407 NA NA NA NA NA 6q14.1 NA NA NA NA rs6913979 0.61 0.61 0.625 0.635982 0.6769 0.4821 0.6095 0.6997 0.6851 0.68 0.45 0.63 0.67 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487484 NA NA NA NA NA 0.674 NA 3.3231 1320 11 49401125 49401125 T G intergenic FOLH1,LOC440040 dist=170903;dist=178955 NA NA ncRNA_exonic ENSG00000255532 NA NA NA NA NA 11p11.12 NA NA NA NA rs7102702 0.7 0.7 0.659 0.696885 0.6769 0.7212 0.7882 0.5877 0.7751 0.68 0.73 0.79 0.61 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39235 NA NA NA NA NA 0.565 NA 3.3231 1320 16 28631585 28631585 T G intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA NA NA 16p11.2 NA NA NA NA rs1968752 0.69 0.69 0.666 0.675719 0.6769 0.9256 0.5634 0.4592 0.7894 0.66 0.91 0.65 0.49 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.408005 NA NA NA NA NA 0.754 NA 3.3231 1320 10 90497588 90497588 A G intronic LIPK NA NA NA intronic ENSG00000204021 NA NA NA NA NA 10q23.31 NA NA NA NA rs444764 0.24 0.24 0.238 0.25619 0.2137 0.3502 0.2896 0.1959 0.2607 0.21 0.35 0.23 0.17 0.2386 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485055 NA NA 0.224669 0.195281 NA 0.152 NA 3.323031 1320 19 43883124 43883124 C T intergenic CD177,TEX101 dist=15644;dist=9639 NA NA ncRNA_intronic ENSG00000204933 NA NA NA NA NA 19q13.31 NA NA NA NA rs4803622 0.23 0.23 0.234 0.223442 0.3698 0.0784 0.3847 0.1392 0.2219 0.36 0.08 0.36 0.14 0.3073 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667796 NA NA NA NA NA 0.261 NA 3.3229 1320 14 36244815 36244815 C A intronic RALGAPA1 NA NA NA intronic ENSG00000174373 NA NA NA NA NA 14q13.2 NA NA NA NA rs7142261 0.44 0.44 0.447 0.473043 0.1899 0.5784 0.2277 0.7557 0.4479 0.19 0.61 0.29 0.72 0.3116 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321438 1.321438 NA 0.175638 0.658459 NA 0.399 NA 3.322862 1320 5 145532859 145532859 T C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs17500483 0.26 0.26 0.242 0.253594 0.328 0.1984 0.4236 0.1672 0.2301 0.33 0.2 0.35 0.16 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574834 NA NA 0.349466 0.209538 ID=COSN167584;OCCURENCE=1(large_intestine) 0.348 NA 3.322534 1320 7 142028118 142028118 C A intergenic LOC730441,MTRNR2L6 dist=56050;dist=346013 NA NA upstream ENSG00000211706 NA NA NA NA NA 7q34 NA NA Name=12 NA rs361429 0.4 0.4 0.353 0.344449 0.5815 0.371 0.3689 0.1498 0.319 0.6 0.35 0.37 0.17 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25259 NA NA 0.596166 0.223988 NA 0.275 NA 3.322334 1320 3 11276399 11276399 T C intronic HRH1 NA NA NA intronic ENSG00000196639 NA NA NA NA NA 3p25.3 NA NA NA NA rs347614 0.67 0.67 0.675 0.641174 0.6779 0.6865 0.5259 0.6732 0.5951 0.69 0.69 0.59 0.68 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585324 NA NA NA NA NA 0.659 NA 3.3221 1320 6 4979405 4979405 T C intergenic CDYL,RPP40 dist=23627;dist=15875 NA NA ncRNA_exonic ENSG00000217030 NA NA NA NA NA 6p25.1 NA NA NA NA rs2764180 0.76 0.76 0.758 0.757788 0.6779 0.9802 0.7104 0.6808 0.7485 0.68 0.99 0.71 0.67 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.32768 NA NA NA NA NA 0.783 NA 3.3221 1320 6 32427512 32427512 C T intergenic HLA-DRA,HLA-DRB5 dist=14686;dist=57642 NA NA downstream ENSG00000196301 NA NA NA NA NA 6p21.32 NA NA NA NA rs28732232 0.12 0.12 0.098 0.121006 0.1779 0.0516 0.1138 0.0991 0.1687 0.18 0.05 0.12 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697286 NA NA NA NA NA 0.116 NA 3.3221 1320 10 124329580 124329580 C A intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs11524819 0.71 0.71 0.686 0.704273 0.6779 0.7748 0.7867 0.6097 0.728 0.7 0.77 0.78 0.59 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149013 NA NA NA NA NA 0.739 NA 3.3221 1320 11 49007360 49007360 G C intergenic OR4A47,TRIM49B dist=496086;dist=45792 NA NA downstream ENSG00000254764 NA NA NA NA NA 11p11.12 NA NA NA NA rs11040205 0.19 0.19 0.17 0.196286 0.1779 0.1667 0.1527 0.2988 0.138 0.17 0.16 0.15 0.28 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728856 NA NA NA NA NA 0.246 NA 3.3221 1320 5 75997069 75997069 C T intronic IQGAP2 NA NA NA ncRNA_intronic ENSG00000225407 NA NA NA NA NA 5q13.3 NA NA NA NA rs2307123 0.29 0.29 0.272 0.275759 0.3618 0.2837 0.2637 0.2776 0.1851 0.35 0.27 0.27 0.25 0.3059 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540957 NA NA 0.343605 0.277803 NA 0.152 NA 3.3220283 1320 16 15221957 15221957 T C intergenic RRN3,MIR3180-4 dist=33799;dist=26750 NA NA ncRNA_exonic ENSG00000188599,ENSG00000250251,ENSG00000270580 NA NA NA Score=572;Name=lod=282 NA 16p13.11 NA NA NA NA rs9923527 0.74 0.74 0.62 0.74381 0.8489 0.7312 0.8991 0.5499 0.8006 0.83 0.7 0.88 0.55 0.8293 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114759 NA 1 NA NA NA 0.029 NA 3.3218 1320 2 37415496 37415496 G C intronic SULT6B1 NA NA NA intronic ENSG00000138068 NA NA NA NA NA 2p22.2 NA NA NA NA rs11124566 0.7 0.7 0.66 0.671126 0.6789 0.9087 0.7637 0.4213 0.6902 0.68 0.92 0.79 0.41 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482021 NA NA NA NA NA 0.667 NA 3.3211 1320 7 56122898 56122898 T C intronic CCT6A NA NA NA intronic ENSG00000146731 NA NA NA NA NA 7p11.2 NA NA NA NA rs6958480 0.67 0.67 0.638 0.642772 0.6789 0.7103 0.6614 0.5983 0.5828 0.69 0.71 0.65 0.61 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910216 NA NA NA NA NA 0.688 NA 3.3211 1320 10 124328010 124328010 A G intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2981779 0.68 0.68 0.663 0.688898 0.6789 0.7728 0.7767 0.5582 0.727 0.69 0.77 0.76 0.52 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026194 NA NA NA NA NA 0.732 NA 3.3211 1320 10 124328080 124328080 A T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2981780 0.68 0.68 0.661 0.688898 0.6789 0.7728 0.7767 0.5582 0.727 0.69 0.77 0.76 0.52 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440023 NA NA NA NA NA 0.732 NA 3.3211 1320 10 124329583 124329583 G A intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs11524820 0.71 0.71 0.691 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.7 0.77 0.78 0.59 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627642 NA NA NA NA NA 0.739 NA 3.3211 1320 10 124329801 124329801 G A intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740223 0.7 0.7 0.668 0.705072 0.6789 0.7728 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309933 NA NA NA NA NA 0.739 NA 3.3211 1320 10 124329866 124329866 A C intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740224 0.7 0.7 0.667 0.70607 0.6789 0.7768 0.7882 0.6127 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459916 NA NA NA NA NA 0.739 NA 3.3211 1320 10 124331722 124331722 T C intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2981801 0.7 0.7 0.656 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327835 NA NA NA NA NA 0.739 NA 3.3211 1320 10 124331957 124331957 T C intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2277230 0.7 0.7 0.68 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199275 NA NA NA NA NA 0.732 NA 3.3211 1320 10 124331963 124331963 A G intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2277231 0.7 0.7 0.69 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.105561 NA NA NA NA NA 0.739 NA 3.3211 1320 10 124332035 124332035 T C intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2277232 0.7 0.7 0.68 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146479 NA NA NA NA NA 0.739 NA 3.3211 1320 19 12766370 12766370 G A intronic MAN2B1 NA NA NA intronic ENSG00000104774 NA NA NA NA NA 19p13.2 NA NA NA NA rs8107642 0.41 0.41 0.392 0.365815 0.6789 0.1558 0.5029 0.1989 0.3885 0.67 0.15 0.54 0.21 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540994 NA NA NA NA NA 0.536 NA 3.3211 1320 19 48260079 48260079 T C intronic GLTSCR2 NA NA NA intronic ENSG00000105373 NA NA NA NA NA 19q13.33 NA NA NA NA rs889142 0.69 0.69 0.688 0.711661 0.6789 0.5556 0.6888 0.8517 0.7331 0.68 0.55 0.69 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520168 NA NA NA NA NA 0.848 NA 3.3211 1320 17 3649214 3649214 G A exonic ITGAE NA synonymous SNV ITGAE:NM_002208:exon18:c.C2163T:p.R721R exonic ENSG00000083457 NA synonymous SNV ENSG00000083457:ENST00000263087:exon18:c.C2163T:p.R721R NA NA 17p13.2 NA NA NA NA rs1183610 0.75 0.75 0.763 0.715056 0.831 0.4524 0.8271 0.9244 0.5041 0.83 0.48 0.81 0.92 0.7253 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04025 NA NA 0.789302 0.909669 NA 0.768 NA 3.3210646 1320 2 127453479 127453479 G A intronic GYPC NA NA NA intronic ENSG00000136732 NA NA NA NA NA 2q14.3 NA NA NA NA rs4538146 0.36 0.36 0.367 0.321885 0.2167 0.4276 0.3732 0.4387 0.1268 0.22 0.46 0.34 0.48 0.2481 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802879 NA NA 0.214651 0.389469 NA 0.326 NA 3.320549 1320 1 12628471 12628471 A C intronic DHRS3 NA NA NA intronic ENSG00000162496 NA NA NA NA NA 1p36.22 NA NA NA NA rs4072868 0.12 0.12 0.101 0.110224 0.2465 0.0159 0.098 0.0295 0.1851 0.26 0.02 0.11 0.03 0.1892 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640474 NA NA 0.243953 0.063096 NA 0.181 NA 3.320347 1320 2 158067082 158067082 G A intergenic GPD2,GALNT5 dist=624167;dist=47258 NA NA downstream ENSG00000213194 NA NA NA NA NA 2q24.1 NA NA NA NA rs196394 0.28 0.28 0.302 0.300519 0.1799 0.0942 0.1758 0.7073 0.1759 0.17 0.08 0.18 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285741 NA NA NA NA NA 0.254 NA 3.3201 1320 6 30551286 30551286 A G intronic ABCF1 NA NA NA intronic ENSG00000204574 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264440 0.68 0.68 0.677 0.714058 0.6799 0.6746 0.5937 0.7292 0.8548 0.69 0.69 0.59 0.71 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.469001 2.469001 NA NA NA NA 0.775 NA 3.3201 1320 11 49003362 49003362 G A intergenic OR4A47,TRIM49B dist=492088;dist=49790 NA NA upstream ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs11608048 0.25 0.25 0.168 0.273363 0.1799 0.4028 0.2378 0.1195 0.4693 0.21 0.37 0.24 0.17 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.279857 NA NA NA NA NA 0.167 NA 3.3201 1320 13 25183166 25183166 C T intergenic TPTE2P6,ATP12A dist=11354;dist=71383 NA NA upstream ENSG00000211508 NA NA NA NA NA 13q12.12 NA NA NA NA rs117034113 0.09 0.09 0.064 0.0605032 0.1799 NA 0.1282 0.0091 0.0215 0.17 NA 0.14 0.01 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746274 NA NA NA NA NA 0.043 NA 3.3201 1320 15 74560566 74560566 C T intronic CCDC33 NA NA NA intronic ENSG00000140481 NA NA NA NA NA 15q24.1 NA NA NA NA rs1038436 0.47 0.47 0.472 0.407947 0.6799 0.5595 0.4193 0.0545 0.4417 0.67 0.55 0.46 0.06 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780714 NA NA NA NA NA 0.457 NA 3.3201 1320 19 6820951 6820951 C T intronic VAV1 NA NA NA intronic ENSG00000141968 NA NA NA NA NA 19p13.3 NA NA NA NA rs164016 0.66 0.66 0.687 0.651158 0.6799 0.5278 0.6153 0.7791 0.6012 0.67 0.57 0.62 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334645 NA NA NA NA NA 0.783 NA 3.3201 1320 10 13099843 13099843 G T intergenic CCDC3,OPTN dist=56139;dist=42239 NA NA intronic ENSG00000151468 NA NA NA NA NA 10p13 NA NA NA NA rs519279 0.33 0.33 0.32 0.284345 0.3469 0.126 0.3487 0.4092 0.1687 0.36 0.14 0.41 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882546 NA NA NA NA NA 0.333 NA 3.3197667 1320 9 129595895 129595895 T C exonic ZBTB43 NA synonymous SNV ZBTB43:NM_001135776:exon2:c.T1107C:p.T369T,ZBTB43:NM_014007:exon3:c.T1107C:p.T369T exonic ENSG00000169155 NA synonymous SNV ENSG00000169155:ENST00000373457:exon1:c.T1107C:p.T369T,ENSG00000169155:ENST00000449886:exon2:c.T1107C:p.T369T,ENSG00000169155:ENST00000373464:exon3:c.T1107C:p.T369T NA NA 9q33.3 NA NA NA NA rs3118994 0.83 0.83 0.85 0.842452 0.7753 0.9732 0.6614 0.8525 0.8916 0.76 0.97 0.73 0.85 0.7949 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420804 NA NA 0.77686 0.84453 NA 0.797 NA 3.3196066 1320 12 48880550 48880550 T C intronic C12orf54 NA NA NA ncRNA_intronic ENSG00000258121 NA NA NA NA NA 12q13.11 NA NA NA NA rs2731092 0.29 0.29 0.294 0.305112 0.3449 0.1647 0.2853 0.3759 0.3272 0.33 0.17 0.28 0.38 0.3127 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131418 NA NA 0.356395 0.345211 NA 0.319 NA 3.3193383 1320 1 40207169 40207169 T G intronic PPIE NA NA NA intronic ENSG00000084072 NA NA NA NA NA 1p34.2 NA NA NA NA rs497333 0.6 0.6 0.58 0.573283 0.6809 0.4633 0.5375 0.5446 0.6401 0.7 0.49 0.59 0.6 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823184 NA NA NA NA NA 0.696 NA 3.3191 1320 8 47505224 47505224 C T intergenic NONE,LINC00293 dist=NONE;dist=247284 NA NA ncRNA_intronic ENSG00000248498 NA NA NA NA NA 8q11.1 NA NA NA NA rs4872670 0.52 0.52 0.461 0.418331 0.6809 0.6121 0.5259 0.0651 0.3497 0.69 0.64 0.58 0.07 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668182 NA NA NA NA NA 0.522 NA 3.3191 1320 8 47507683 47507683 A G intergenic NONE,LINC00293 dist=NONE;dist=244825 NA NA ncRNA_exonic ENSG00000248498 NA NA NA NA NA 8q11.1 NA NA NA NA rs13276733 0.52 0.52 0.465 0.418331 0.6809 0.6121 0.5259 0.0651 0.3497 0.69 0.64 0.58 0.07 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68476 NA NA NA NA NA 0.522 NA 3.3191 1320 14 51172219 51172219 C A intergenic SAV1,NIN dist=37148;dist=14262 NA NA ncRNA_exonic ENSG00000258491 NA NA NA NA NA 14q22.1 NA NA NA NA rs10144234 0.82 0.82 0.804 0.823283 0.6809 0.87 0.7968 0.9652 0.7485 0.7 0.87 0.81 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210589 NA NA NA NA NA 0.913 NA 3.3191 1320 16 58320211 58320211 T C intronic PRSS54 NA NA NA intronic ENSG00000103023 NA NA NA NA NA 16q21 NA NA NA NA rs4784916 0.69 0.69 0.699 0.692292 0.6809 0.5853 0.5605 0.9244 0.5941 0.69 0.55 0.59 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045834 NA NA NA NA NA 0.783 NA 3.3191 1320 5 75997063 75997063 A G intronic IQGAP2 NA NA NA ncRNA_intronic ENSG00000225407 NA NA NA NA NA 5q13.3 NA NA NA NA rs2307124 0.3 0.3 0.282 0.284345 0.3618 0.2837 0.268 0.3079 0.1851 0.35 0.27 0.27 0.27 0.3092 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546041 NA NA 0.343256 0.311167 NA 0.159 NA 3.3190773 1320 1 177906657 177906657 G A intronic SEC16B NA NA NA intronic ENSG00000120341,ENSG00000254154 NA NA NA NA NA 1q25.2 NA NA NA NA rs6676302 0.21 0.21 0.186 0.241813 0.1879 0.25 0.2003 0.27 0.2802 0.18 0.2 0.22 0.25 0.2956 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582547 NA NA 0.19797 0.242518 NA 0.21 NA 3.31853 1320 2 132290399 132290399 G A ncRNA_intronic RNU6-81P NA NA NA intronic ENSG00000163040 NA NA NA NA NA 2q21.1 NA NA NA NA rs34096718 0.51 0.51 0.525 0.539537 0.3211 0.6815 0.5418 0.7057 0.3916 0.29 0.66 0.48 0.71 0.3964 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238373 NA NA 0.297627 0.630336 NA 0.246 NA 3.3182063 1320 6 109980317 109980317 G A intronic AK9 NA NA NA intronic ENSG00000155085 NA NA NA NA NA 6q21 NA NA NA NA rs4947004 0.78 0.78 0.758 0.806709 0.6819 0.9901 0.8112 0.7118 0.8712 0.68 0.99 0.76 0.72 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127951 NA NA NA NA NA 0.717 NA 3.3181 1320 8 139153374 139153374 G C intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA NA NA NA rs4909738 0.72 0.72 0.703 0.714058 0.6819 0.751 0.745 0.6793 0.7342 0.68 0.77 0.71 0.72 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522997 NA NA NA NA NA 0.79 NA 3.3181 1320 14 78023519 78023519 C G intronic SPTLC2 NA NA NA intronic ENSG00000100596 NA NA NA NA NA 14q24.3 NA NA Name=5 NA rs2272587 0.53 0.53 0.504 0.480032 0.5726 0.8839 0.4496 0.0961 0.5092 0.56 0.9 0.46 0.08 0.5355 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506661 NA NA 0.574535 0.182705 NA 0.457 NA 3.317365 1320 18 21883552 21883552 G A intronic OSBPL1A NA NA NA intronic ENSG00000141447 NA NA NA NA NA 18q11.2 NA NA NA NA rs1487377 0.25 0.25 0.255 0.255791 0.2346 0.0625 0.1585 0.5189 0.1902 0.25 0.06 0.2 0.5 0.2226 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103075 NA NA 0.225581 0.469587 NA 0.297 NA 3.317219 1320 1 111854207 111854207 T C intronic CHIA NA NA NA intronic ENSG00000134216 NA NA NA NA NA 1p13.2 NA NA NA NA rs4839122 0.72 0.72 0.698 0.686701 0.6829 0.8442 0.8084 0.5522 0.6237 0.68 0.85 0.78 0.6 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080478 NA NA NA NA NA 0.58 NA 3.3171 1320 18 57115133 57115133 T C intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs3809990 0.66 0.66 0.664 0.694289 0.6829 0.7341 0.6095 0.6263 0.817 0.68 0.71 0.6 0.62 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576741 NA NA NA NA NA 0.732 NA 3.3171 1320 7 77755197 77755197 A G intronic MAGI2 NA NA NA intronic ENSG00000187391 NA NA NA NA NA 7q21.11 NA NA NA NA rs2023946 0.23 0.23 0.206 0.222843 0.2286 0.2262 0.2983 0.1921 0.2014 0.22 0.24 0.28 0.18 0.2308 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.985965 NA NA 0.223825 0.203132 NA 0.225 NA 3.316775 1320 4 68812283 68812283 C T exonic TMPRSS11A NA synonymous SNV TMPRSS11A:NM_001114387:exon2:c.G18A:p.V6V,TMPRSS11A:NM_182606:exon2:c.G18A:p.V6V exonic ENSG00000187054 NA synonymous SNV ENSG00000187054:ENST00000334830:exon2:c.G18A:p.V6V,ENSG00000187054:ENST00000396188:exon2:c.G18A:p.V6V,ENSG00000187054:ENST00000508048:exon2:c.G15A:p.V5V NA NA 4q13.2 NA NA NA NA rs11930532 0.65 0.65 0.634 0.620807 0.7843 0.8105 0.6037 0.2458 0.7761 0.79 0.81 0.66 0.26 0.7371 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10194 NA NA 0.828605 0.33636 NA 0.623 NA 3.3166616 1320 8 10583203 10583203 A G UTR3 SOX7 NM_031439:c.*45T>C NA NA UTR3 ENSG00000171056,ENSG00000258724 ENST00000304501:c.*45T>C,ENST00000553390:c.*45T>C;ENST00000554914:c.*45T>C NA NA NA NA 8p23.1 NA NA Name=3 NA rs10110624 0.63 0.63 0.664 0.64996 0.6879 0.3423 0.5893 0.8585 0.6892 0.69 0.36 0.62 0.87 0.6501 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948076 NA NA 0.678879 0.822434 NA 0.696 NA 3.3164544 1320 12 59246581 59246581 T G intergenic XRCC6BP1,LRIG3 dist=895529;dist=19356 NA NA intergenic ENSG00000258231,ENSG00000139263 dist=39739;dist=19350 NA NA NA NA 12q14.1 NA NA NA NA rs114750263 0.02 0.02 0.018 0.0345447 0.0169 NA 0.0173 0.0507 0.0787 0.01 NA 0.02 0.05 NA 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660801 NA NA NA NA NA 0.014 NA 3.3164334 1320 1 41454425 41454425 G A intronic CTPS1 NA NA NA intronic ENSG00000171793 NA NA NA NA NA 1p34.2 NA NA NA NA rs6675122 0.17 0.17 0.156 0.151158 0.2336 0.0476 0.1599 0.205 0.0941 0.23 0.05 0.19 0.21 0.2052 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523685 NA NA 0.244767 0.200182 NA 0.268 NA 3.316433 1320 4 37841430 37841430 C T intronic PGM2 NA NA NA intronic ENSG00000169299 NA NA NA NA NA 4p14 NA NA NA NA rs2261414 0.33 0.33 0.344 0.350839 0.2167 0.3046 0.281 0.6755 0.1472 0.21 0.26 0.27 0.64 0.2546 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.25903 1.25903 NA 0.212326 0.608942 NA 0.413 NA 3.316374 1320 3 121366123 121366123 C T intronic HCLS1 NA NA NA intronic ENSG00000180353 NA NA NA NA NA 3q13.33 NA NA NA NA rs9818402 0.22 0.22 0.204 0.23123 0.2187 0.2778 0.1744 0.1838 0.3006 0.22 0.3 0.18 0.16 0.2374 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587248 NA NA 0.227674 0.209714 NA 0.203 NA 3.316226 1320 1 75108863 75108863 A C intronic C1orf173 NA NA NA intronic ENSG00000178965 NA NA NA NA NA 1p31.1 NA NA NA NA rs623171 0.65 0.65 0.672 0.674521 0.6839 0.3919 0.7061 0.8843 0.6503 0.68 0.37 0.74 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107949 NA NA NA NA NA 0.71 NA 3.3161 1320 3 45764544 45764544 T C intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2742449 0.57 0.57 0.568 0.545527 0.6839 0.3839 0.5706 0.6498 0.411 0.7 0.34 0.58 0.62 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096937 NA NA NA NA NA 0.507 NA 3.3161 1320 3 45773732 45773732 G A intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs11709306 0.57 0.57 0.558 0.545527 0.6839 0.3839 0.5706 0.6498 0.411 0.7 0.34 0.58 0.62 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078654 NA NA NA NA NA 0.471 NA 3.3161 1320 8 62479934 62479934 C T intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs10090754 0.54 0.54 0.52 0.527356 0.6839 0.506 0.6239 0.2489 0.6963 0.7 0.5 0.67 0.26 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201821 NA NA NA NA NA 0.543 NA 3.3161 1320 11 69071377 69071377 T C intergenic MYEOV,CCND1 dist=6623;dist=384496 NA NA upstream ENSG00000213275 NA NA NA NA NA 11q13.3 NA NA NA NA rs11605044 0.51 0.51 0.538 0.567891 0.1839 0.7262 0.4438 0.9085 0.4274 0.18 0.74 0.38 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820068 NA NA NA NA NA 0.609 NA 3.3161 1320 1 26527310 26527310 C G intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA NA NA NA rs12118976 0.19 0.19 0.183 0.194489 0.2455 0.0218 0.1513 0.3434 0.1493 0.26 0.02 0.17 0.32 0.2035 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665517 NA NA 0.235116 0.310486 NA 0.196 NA 3.315884 1320 10 105973981 105973981 C G intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA NA NA NA rs584082 0.19 0.19 0.205 0.203075 0.2475 0.123 0.1412 0.2247 0.2546 0.26 0.11 0.17 0.21 0.2092 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101216 NA NA 0.227442 0.220154 NA 0.123 NA 3.315858 1320 14 101200445 101200445 T C intronic DLK1 NA NA NA intronic ENSG00000185559 NA NA NA Score=272;Name=lod=17 NA 14q32.2 NA NA NA NA rs17577779 0.75 0.75 0.703 0.746006 0.5437 0.994 0.683 0.7852 0.6902 0.56 1 0.65 0.83 0.6323 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109764 NA NA 0.508208 0.759503 NA 0.609 NA 3.315792 1320 15 100594271 100594271 G A intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs28529328 0.32 0.32 0.315 0.307308 0.2018 0.4435 0.3112 0.3298 0.2423 0.21 0.47 0.31 0.36 0.2676 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.257522 1.257522 NA 0.214884 0.30118 NA 0.268 NA 3.315716 1320 3 53265581 53265581 C T intronic TKT NA NA NA intronic ENSG00000163931 NA NA NA NA NA 3p21.1 NA NA NA NA rs17234092 0.14 0.14 0.134 0.126198 0.2515 0.0476 0.2176 0.0484 0.1186 0.26 0.04 0.2 0.05 0.1962 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.186898 NA NA 0.23686 0.076033 NA 0.109 NA 3.31544 1320 12 117465981 117465981 T C UTR3 FBXW8 NM_012174:c.*4T>C,NM_153348:c.*4T>C NA NA UTR3 ENSG00000174989 ENST00000309909:c.*4T>C,ENST00000455858:c.*4T>C NA NA NA NA 12q24.22 NA NA NA NA rs2291916 0.46 0.46 0.494 0.524161 0.325 0.4573 0.2478 0.8797 0.5133 0.31 0.43 0.27 0.86 0.3753 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148086 NA NA 0.317791 0.810713 NA 0.428 NA 3.3152424 1320 1 47110712 47110712 C T intronic ATPAF1 NA NA NA intronic ENSG00000123472 NA NA NA NA NA 1p33 NA NA NA NA rs1258053 0.46 0.46 0.459 0.460863 0.6849 0.2004 0.5346 0.3533 0.592 0.7 0.22 0.53 0.32 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280572 NA NA NA NA NA 0.558 NA 3.3151 1320 5 10489229 10489229 T C intergenic ROPN1L,ANKRD33B dist=24091;dist=75206 NA NA ncRNA_exonic ENSG00000244361 NA NA NA NA NA 5p15.2 NA NA NA NA rs2399907 0.66 0.66 0.629 0.678914 0.6849 0.8651 0.7579 0.3797 0.8292 0.65 0.85 0.75 0.4 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.241966 NA NA NA NA NA 0.638 NA 3.3151 1320 14 75200697 75200697 G A intronic FCF1 NA NA NA intronic ENSG00000119616 NA NA NA NA NA 14q24.3 NA NA NA NA rs3825708 0.7 0.7 0.716 0.710264 0.6849 0.751 0.7349 0.6861 0.7096 0.68 0.74 0.69 0.68 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224941 NA NA NA NA NA 0.819 NA 3.3151 1320 17 67133352 67133352 T G intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.3 NA NA NA NA rs2041171 0.66 0.66 0.637 0.699081 0.6849 0.4692 0.7637 0.8737 0.6687 0.68 0.42 0.72 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378556 NA NA NA NA NA 0.674 NA 3.3151 1320 17 72929380 72929380 G C intronic OTOP2 NA NA NA intronic ENSG00000183034 NA NA NA NA NA 17q25.1 NA NA NA NA rs2035835 0.73 0.73 0.731 0.769768 0.6849 0.6329 0.7536 0.9387 0.7812 0.71 0.6 0.72 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794422 NA NA NA NA NA 0.696 NA 3.3151 1321 19 44426265 44426265 A G intronic ZNF45 NA NA NA ncRNA_intronic ENSG00000267191 NA NA NA NA NA 19q13.31 NA NA NA NA rs413093 0.57 0.57 0.541 0.528155 0.5169 0.7996 0.6499 0.3336 0.4366 0.51 0.82 0.58 0.38 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091499 NA NA 0.501886 0.353324 NA 0.5 NA 3.3145473 1321 2 33623288 33623288 T C intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs626121 0.61 0.61 0.594 0.569888 0.6859 0.6438 0.5706 0.4932 0.4775 0.68 0.63 0.56 0.51 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225397 NA NA NA NA NA 0.601 NA 3.3141 1321 3 129152144 129152144 T C intronic MBD4 NA NA NA intronic ENSG00000129071 NA NA NA NA NA 3q21.3 NA NA NA NA rs140695 0.84 0.84 0.855 0.851238 0.6859 0.9752 0.8055 0.9773 0.7556 0.68 0.98 0.77 0.97 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824077 NA NA NA NA NA 0.891 NA 3.3141 1321 14 88983673 88983673 C A intronic PTPN21 NA NA NA intronic ENSG00000070778 NA NA NA NA NA 14q31.3 NA NA NA NA rs4904452 0.54 0.54 0.491 0.455272 0.6859 0.5298 0.683 0.1452 0.3988 0.68 0.58 0.68 0.17 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286322 NA NA NA NA NA 0.399 NA 3.3141 1321 22 18843741 18843741 T A intergenic GGT3P,DGCR6 dist=64267;dist=49995 NA NA ncRNA_intronic ENSG00000161103,ENSG00000215544 NA NA NA NA NA 22q11.21 NA NA NA NA rs3983990 0.36 0.36 0.421 0.730431 0.6859 0.7321 0.6254 0.7837 0.7771 0.37 0.28 0.39 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329208 NA NA NA NA NA NA NA 3.3141 1321 16 1652614 1652614 T A intronic IFT140 NA NA NA ncRNA_intronic ENSG00000260989 NA NA NA NA NA 16p13.3 NA NA NA NA rs2236269 0.47 0.47 0.456 0.503994 0.3032 0.5635 0.4006 0.7126 0.4407 0.3 0.54 0.39 0.72 0.3981 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086556 NA NA 0.318023 0.654616 NA 0.428 NA 3.3140103 1321 11 114569054 114569054 A G exonic NXPE2 NA synonymous SNV NXPE2:NM_182495:exon3:c.A420G:p.G140G exonic ENSG00000204361 NA synonymous SNV ENSG00000204361:ENST00000375475:exon3:c.A420G:p.G140G,ENSG00000204361:ENST00000389586:exon3:c.A420G:p.G140G NA NA 11q23.3 NA NA NA NA rs1712838 0.78 0.78 0.74 0.76258 0.7773 0.8224 0.8329 0.674 0.7556 0.78 0.82 0.82 0.7 0.7932 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718204 NA NA 0.782527 0.715318 NA 0.804 NA 3.3136396 1321 13 52701637 52701637 T G UTR5 NEK5 NM_199289:c.-19A>C NA NA UTR5 ENSG00000197168 ENST00000355568:c.-19A>C NA NA NA NA 13q14.3 NA Name=MafK_(ab50322),GATA-1 NA NA rs1886544 0.57 0.57 0.509 0.523163 0.7107 0.5982 0.6398 0.267 0.5164 0.69 0.58 0.65 0.29 0.6217 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540299 NA NA 0.687442 0.32365 NA 0.58 NA 3.3134914 1321 5 137527917 137527917 C G intronic CDC23 NA NA NA intronic ENSG00000094880 NA NA NA NA NA 5q31.2 NA NA NA NA rs2231478 0.21 0.21 0.196 0.20028 0.2515 0.0238 0.2291 0.3343 0.1278 0.24 0.03 0.29 0.33 0.2018 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241908 NA NA 0.233372 0.302542 NA 0.268 NA 3.313328 1321 1 17431277 17431277 G T intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA NA NA NA rs6701159 0.71 0.71 0.686 0.711462 0.6869 0.8284 0.7032 0.5983 0.7751 0.69 0.86 0.7 0.58 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183706 NA NA NA NA NA 0.768 NA 3.3131 1321 8 26868333 26868333 C A intergenic ADRA1A,STMN4 dist=145411;dist=225481 NA NA downstream ENSG00000215288 NA NA NA NA NA 8p21.2 NA NA NA NA rs28441062 0.14 0.14 NA 0.121605 0.1869 0.0675 0.1585 0.0575 0.1708 0.21 0.05 0.19 0.13 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743281 NA NA NA NA NA 0.203 NA 3.3131 1321 19 47588202 47588202 G T intronic ZC3H4 NA NA NA intronic ENSG00000130749 NA NA NA NA NA 19q13.32 NA NA NA NA rs7248181 0.42 0.42 0.4 0.375399 0.6869 0.2758 0.5403 0.1006 0.4121 0.69 0.26 0.53 0.1 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062427 NA NA NA NA NA 0.37 NA 3.3131 1321 6 42613379 42613379 A G intronic UBR2 NA NA NA intronic ENSG00000024048 NA NA NA NA NA 6p21.1 NA NA NA NA rs3749900 0.19 0.19 0.2 0.209065 0.2465 0.0913 0.1931 0.2352 0.2679 0.24 0.09 0.15 0.26 0.2155 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050076 NA NA 0.225116 0.234226 NA 0.217 NA 3.312884 1321 6 152539350 152539350 C G intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9371243 0.28 0.28 0.246 0.279153 0.2058 0.5347 0.2233 0.0938 0.3814 0.22 0.55 0.23 0.1 0.2599 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397232 NA NA 0.22186 0.118021 NA 0.275 NA 3.31244 1321 10 100003785 100003785 T C intronic R3HCC1L NA NA NA intronic ENSG00000166024 NA NA NA NA NA 10q24.2 NA NA NA NA rs1359508 0.33 0.33 0.332 0.322684 0.3231 0.4722 0.33 0.2088 0.317 0.32 0.48 0.33 0.17 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938833 NA NA 0.364551 0.253613 NA 0.326 NA 3.312349 1321 6 32975381 32975381 A G intronic HLA-DOA NA NA NA intronic ENSG00000204252 NA NA NA NA NA 6p21.32 NA Name=ZNF263 NA NA rs453779 0.59 0.59 0.548 0.590455 0.5765 0.7044 0.4654 0.6135 0.545 0.57 0.67 0.46 0.63 0.5551 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918363 NA NA 0.556151 0.607616 NA 0.471 NA 3.312249 1321 6 18406500 18406500 A G intronic RNF144B NA NA NA intronic ENSG00000137393 NA NA NA NA NA 6p22.3 NA NA NA NA rs6906391 0.63 0.63 0.631 0.604034 0.6879 0.6726 0.5504 0.5371 0.5757 0.69 0.66 0.57 0.54 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265572 NA NA NA NA NA 0.652 NA 3.3121 1321 6 20042648 20042648 C G intergenic ID4,MBOAT1 dist=200217;dist=57268 NA NA downstream ENSG00000229700 NA NA NA NA NA 6p22.3 NA NA NA NA rs2294182 0.18 0.18 0.162 0.170927 0.1879 0.1101 0.196 0.1846 0.18 0.19 0.12 0.2 0.22 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072501 NA NA NA NA NA 0.217 NA 3.3121 1321 1 22204630 22204630 G A intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs7513608 0.33 0.33 0.28 0.309704 0.2107 0.6052 0.4135 0.1664 0.227 0.22 0.6 0.38 0.15 0.2667 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527619 NA NA 0.21063 0.15713 NA 0.319 NA 3.31197 1321 12 68646521 68646521 T C intronic IL22 NA NA NA intronic ENSG00000127318 NA NA NA NA NA 12q15 NA Name=NRSF NA NA rs2227491 0.54 0.54 0.497 0.549321 0.5596 0.5308 0.5072 0.6354 0.4714 0.56 0.48 0.52 0.6 0.5502 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073282 NA NA 0.578256 0.618475 NA 0.659 NA 3.311944 1321 1 26527304 26527304 T C intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA NA NA NA rs12121284 0.21 0.21 0.215 0.205671 0.2455 0.0218 0.1527 0.385 0.1493 0.26 0.02 0.18 0.36 0.2066 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818181 NA NA 0.236047 0.344303 NA 0.21 NA 3.311853 1321 8 140690265 140690265 C T intronic KCNK9 NA NA NA intronic ENSG00000169427 NA NA NA NA NA 8q24.3 NA NA NA NA rs984793 0.57 0.57 0.553 0.595048 0.6889 0.375 0.6542 0.6074 0.6667 0.68 0.38 0.66 0.54 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854793 NA NA NA NA NA 0.572 NA 3.3111 1321 19 6147743 6147743 G C intronic ACSBG2 NA NA NA intronic ENSG00000087903,ENSG00000130377 NA NA NA NA NA 19p13.3 NA NA NA NA rs9304929 0.76 0.76 0.747 0.732228 0.6889 0.7163 0.7435 0.8442 0.6339 0.7 0.74 0.75 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.196683 NA NA NA NA NA 0.761 NA 3.3111 1321 19 51132979 51132979 G A intronic SYT3 NA NA NA intronic ENSG00000213023 NA NA NA NA NA 19q13.33 NA NA NA NA rs10406994 0.58 0.58 0.582 0.596446 0.6889 0.1687 0.7176 0.8646 0.4939 0.67 0.17 0.7 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630221 NA NA NA NA NA 0.174 NA 3.3111 1321 9 116060487 116060487 T C UTR5 RNF183 NM_145051:c.-23A>G NA NA UTR5 ENSG00000165188 ENST00000441031:c.-23A>G,ENST00000416588:c.-23A>G,ENST00000297894:c.-23A>G,ENST00000478815:c.-23A>G NA NA NA NA 9q32 NA NA NA NA rs3750532 0.38 0.38 0.386 0.409545 0.3191 0.4246 0.2075 0.4493 0.5767 0.33 0.44 0.23 0.48 0.3646 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125473 NA NA 0.33879 0.434625 NA 0.413 NA 3.3108434 1321 5 40979790 40979790 A T intronic C7 NA NA NA intronic ENSG00000112936 NA NA NA NA NA 5p13.1 NA NA NA NA rs2876849 0.2 0.2 0.204 0.211462 0.2406 0.3006 0.1268 0.059 0.3558 0.23 0.31 0.14 0.08 0.2297 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.027057 NA NA 0.219094 0.067921 NA 0.159 NA 3.310606 1321 19 3660944 3660944 G A intronic PIP5K1C NA NA NA intronic ENSG00000186111 NA NA NA NA NA 19p13.3 NA NA Name=12 NA rs3826944 0.6 0.6 0.602 0.558506 0.5606 0.6974 0.6542 0.5 0.4243 0.55 0.71 0.64 0.5 0.5644 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874676 NA NA 0.564651 0.49251 NA 0.565 NA 3.310349 1321 12 42305357 42305357 A G intergenic PDZRN4,GXYLT1 dist=336965;dist=170291 NA NA ncRNA_intronic ENSG00000257128,ENSG00000257239 NA NA NA NA NA 12q12 NA NA NA NA rs722216 0.56 0.56 0.519 0.547324 0.6899 0.4206 0.6931 0.323 0.7311 0.7 0.47 0.74 0.33 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911779 NA NA NA NA NA 0.551 NA 3.3101 1321 10 126185707 126185707 C T intronic LHPP NA NA NA intronic ENSG00000107902 NA NA NA NA NA 10q26.13 NA NA NA NA rs3824809 0.7 0.7 0.704 0.727436 0.6899 0.5883 0.6816 0.8185 0.819 0.7 0.61 0.69 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.770985 NA NA NA NA NA 0.659 NA 3.3101 1321 16 57155457 57155457 T C intronic CPNE2 NA NA NA intronic ENSG00000140848 NA NA NA NA NA 16q13 NA NA NA NA rs4783976 0.63 0.63 0.612 0.619808 0.6899 0.504 0.7522 0.6203 0.5726 0.68 0.54 0.73 0.59 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457131 NA NA NA NA NA 0.623 NA 3.3101 1321 17 7350544 7350544 G A intronic CHRNB1 NA NA NA intronic ENSG00000170175 NA NA NA NA NA 17p13.1 NA NA NA NA rs2302767 0.55 0.55 0.558 0.557708 0.6899 0.2113 0.5663 0.6611 0.6329 0.69 0.22 0.62 0.67 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192247 NA NA NA NA ID=COSN165319;OCCURENCE=1(breast) 0.558 NA 3.3101 1321 2 242617851 242617851 A G intronic DTYMK NA NA NA intronic ENSG00000168393 NA NA NA NA NA 2q37.3 NA NA NA NA rs4076639 0.22 0.22 0.204 0.205671 0.2336 0.2946 0.2089 0.0817 0.2505 0.24 0.3 0.21 0.1 0.2317 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783276 NA NA 0.224977 0.10168 NA 0.217 NA 3.309723 1321 6 24554762 24554762 T C intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA NA NA NA rs2243831 0.26 0.26 0.264 0.279153 0.2416 0.1131 0.1686 0.5318 0.226 0.24 0.11 0.19 0.52 0.2302 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81699 NA NA 0.218605 0.479573 NA 0.304 NA 3.309595 1321 19 2115493 2115493 A G intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs2066775 0.32 0.32 0.275 0.328874 0.1978 0.3373 0.2075 0.4909 0.3221 0.19 0.38 0.22 0.52 0.2711 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524088 NA NA 0.221573 0.439672 NA 0.29 NA 3.309527 1321 7 105171156 105171156 C T intergenic PUS7,RINT1 dist=8471;dist=1376 NA NA downstream ENSG00000223886 NA NA NA NA NA 7q22.3 NA NA NA NA rs73192120 0.11 0.11 0.087 0.121206 0.1909 0.0228 0.1513 0.0189 0.2679 0.21 0.01 0.15 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927312 NA NA NA NA NA 0.094 NA 3.3091 1321 10 126185451 126185451 T C intronic LHPP NA NA NA intronic ENSG00000107902 NA NA NA NA NA 10q26.13 NA NA NA NA rs10794134 0.7 0.7 0.698 0.731829 0.6909 0.5923 0.6859 0.8336 0.8129 0.7 0.61 0.7 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089073 NA NA NA NA NA 0.652 NA 3.3091 1321 16 83251210 83251210 G A intronic CDH13 NA NA NA intronic ENSG00000140945 NA NA NA NA NA 16q23.3 NA NA NA NA rs4572385 0.73 0.73 0.721 0.714257 0.6909 0.9563 0.7248 0.5204 0.7434 0.68 0.96 0.7 0.54 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.802189 1.802189 NA NA NA NA 0.601 NA 3.3091 1321 17 27667411 27667411 G T intergenic NUFIP2,MIR4523 dist=46245;dist=50269 NA NA downstream ENSG00000239256 NA NA NA NA NA 17q11.2 NA NA NA NA rs8078951 0.1 0.1 0.071 0.113019 0.1909 0.0089 0.1354 0.0522 0.2065 0.17 0.01 0.13 0.07 NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633964 NA NA NA NA NA 0.152 NA 3.3091 1321 11 132177740 132177740 G T intronic NTM NA NA NA intronic ENSG00000182667 NA NA NA NA NA 11q25 NA NA NA NA rs2305270 0.14 0.14 0.121 0.119609 0.2594 0.0486 0.1441 0.0227 0.1626 0.25 0.05 0.2 0.03 0.1979 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499368 NA NA 0.233768 0.055429 NA 0.145 NA 3.308932 1321 10 115963813 115963813 C T intronic TDRD1 NA NA NA intronic ENSG00000095627 NA NA NA NA NA 10q25.3 NA NA NA NA rs10885537 0.19 0.19 0.179 0.173922 0.2545 0.0605 0.2233 0.2186 0.1125 0.24 0.06 0.24 0.21 0.1989 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372348 NA NA 0.237846 0.211757 NA 0.13 NA 3.308754 1321 19 2939268 2939268 A G intronic ZNF77 NA NA NA intronic ENSG00000175691 NA NA NA NA NA 19p13.3 NA NA NA NA rs10410034 0.41 0.41 0.314 0.426118 0.3499 0.4355 0.5 0.4637 0.3916 0.35 0.46 0.47 0.42 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016243 NA NA 0.341395 0.457558 NA 0.043 NA 3.308705 1321 6 32782387 32782387 G A intronic HLA-DOB NA NA NA intronic ENSG00000241106,ENSG00000250264 NA NA NA NA NA 6p21.32 NA NA NA NA rs2071475 0.23 0.23 0.211 0.228435 0.2237 0.2421 0.3012 0.1346 0.2945 0.22 0.26 0.29 0.16 0.2458 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.749339 1.749339 NA 0.221853 0.141153 NA 0.21 NA 3.308647 1321 20 61460053 61460053 A G intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA NA NA NA rs2249897 0.34 0.34 0.327 0.33746 0.331 0.1171 0.2939 0.587 0.2648 0.34 0.14 0.33 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56122 NA NA 0.360377 0.526734 NA 0.377 NA 3.308623 1321 8 2054195 2054195 C G intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA Name=2 NA rs3817706 0.5 0.5 0.48 0.457069 0.6024 0.5129 0.5245 0.2844 0.4356 0.6 0.51 0.57 0.29 0.5187 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603945 NA NA 0.570349 0.325919 NA 0.486 NA 3.308551 1321 10 118364818 118364818 G T intronic PNLIPRP1 NA NA NA intronic ENSG00000187021 NA NA NA NA NA 10q25.3 NA NA NA NA rs2915754 0.72 0.72 0.686 0.70607 0.6918 0.8988 0.7637 0.5356 0.7117 0.68 0.89 0.73 0.55 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.933617 NA NA NA NA NA 0.739 NA 3.3082 1321 15 25937004 25937004 C T intronic ATP10A NA NA NA intronic ENSG00000206190 NA NA NA NA NA 15q12 NA NA NA NA rs2066705 0.49 0.49 0.461 0.446885 0.6918 0.495 0.5014 0.1679 0.4836 0.7 0.47 0.52 0.17 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036783 NA NA NA NA NA 0.428 NA 3.3082 1321 12 62965149 62965149 T C intronic MON2 NA NA NA intronic ENSG00000061987 NA NA NA NA NA 12q14.1 NA NA NA NA rs2270732 0.15 0.15 0.154 0.129193 0.2485 0.0278 0.1499 0.0976 0.1391 0.25 0.02 0.17 0.12 0.1948 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141861 NA NA 0.248605 0.101906 NA 0.174 NA 3.308095 1321 14 24587545 24587545 A G intronic DCAF11 NA NA NA intronic ENSG00000100897 NA NA NA NA NA 14q11.2 NA NA NA NA rs2277481 0.54 0.54 0.529 0.585264 0.3658 0.6369 0.6009 0.736 0.5429 0.36 0.61 0.57 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.189225 NA NA 0.326218 0.668379 NA 0.42 NA 3.307982 1321 7 38253923 38253923 C A intronic STARD3NL NA NA NA intronic ENSG00000010270 NA NA NA NA NA 7p14.1 NA NA NA NA rs3778894 0.22 0.22 0.194 0.211462 0.2227 0.2202 0.2478 0.2126 0.1636 0.22 0.2 0.24 0.21 0.2226 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134235 NA NA 0.24686 0.21902 NA 0.232 NA 3.30784 1321 8 17920623 17920623 C T intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs6586683 0.37 0.37 0.327 0.383387 0.3419 0.375 0.4942 0.2723 0.5061 0.33 0.36 0.52 0.32 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911155 NA NA 0.350409 0.270231 NA 0.333 NA 3.307691 1321 1 19199487 19199487 A G intronic ALDH4A1 NA NA NA intronic ENSG00000159423,ENSG00000255275 NA NA NA NA NA 1p36.13 NA NA NA NA rs35255325 0.14 0.14 0.128 0.114816 0.2475 0.003 0.1859 0.0787 0.092 0.25 0.0017 0.21 0.09 0.1977 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499021 NA NA 0.247326 0.103041 NA 0.159 NA 3.307474 1321 7 83631376 83631376 T C intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA NA NA rs3735513 0.21 0.21 0.216 0.22504 0.2247 0.1548 0.1844 0.2474 0.2965 0.23 0.15 0.21 0.24 0.2455 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523589 NA NA 0.222442 0.242624 NA 0.239 NA 3.307358 1321 4 9585639 9585639 C A intergenic MIR548I2,DRD5 dist=27702;dist=197619 NA NA ncRNA_exonic ENSG00000249799 NA NA NA NA NA 4p16.1 NA NA NA NA rs11722510 0.48 0.48 0.415 0.419529 0.6928 0.4435 0.5086 0.0915 0.4939 0.68 0.44 0.59 0.13 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958637 NA NA NA NA NA 0.21 NA 3.3072 1321 6 118320108 118320108 A G intronic SLC35F1 NA NA NA intronic ENSG00000196376 NA NA NA NA NA 6q22.2 NA NA NA NA rs9387532 0.71 0.71 0.696 0.684505 0.6928 0.8155 0.6225 0.6445 0.6391 0.7 0.84 0.62 0.64 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871928 NA NA NA NA NA 0.681 NA 3.3072 1321 14 94063949 94063949 C T intronic UNC79 NA NA NA intronic ENSG00000133958 NA NA NA NA NA 14q32.12 NA NA NA NA rs11160132 0.56 0.56 0.525 0.533546 0.6928 0.3452 0.7205 0.4304 0.5706 0.7 0.35 0.73 0.43 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431199 NA NA NA NA NA 0.594 NA 3.3072 1321 15 40505429 40505429 T C intronic BUB1B NA NA NA intronic ENSG00000156970 NA NA NA NA NA 15q15.1 NA NA NA NA rs34358001 0.48 0.48 0.494 0.458466 0.6928 0.2847 0.549 0.298 0.5491 0.7 0.29 0.56 0.31 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932775 NA NA NA NA NA 0.536 NA 3.3072 1321 1 22211217 22211217 G A intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs2290493 0.33 0.33 0.236 0.310703 0.2097 0.6062 0.4135 0.1672 0.2311 0.22 0.6 0.38 0.15 0.2763 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.453551 NA NA 0.207081 0.153549 NA 0.319 NA 3.306919 1321 12 122689244 122689244 C T intronic B3GNT4 NA NA NA UTR5 ENSG00000176383 ENST00000535274:c.-1630C>T NA NA NA NA 12q24.31 NA NA NA NA rs12828049 0.3 0.3 0.219 0.260383 0.2734 0.5585 0.1715 0.034 0.3088 0.31 0.59 0.19 0.04 0.2925 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232223 NA NA 0.294371 0.075682 NA 0.217 NA 3.3063957 1321 2 218694512 218694512 T G intronic TNS1 NA NA NA intronic ENSG00000079308 NA NA NA NA NA 2q35 NA NA NA NA rs55694913 NA NA NA 0.759385 0.6938 0.7083 0.7795 0.823 0.7791 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31822 NA NA NA NA NA NA NA 3.3062 1321 3 119526349 119526349 G A intronic NR1I2 NA NA NA intronic ENSG00000144852 NA NA NA NA NA 3q13.33 NA NA NA NA rs1464603 0.53 0.53 0.504 0.480032 0.6938 0.6052 0.6801 0.056 0.5624 0.69 0.62 0.67 0.08 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148423 NA NA NA NA NA 0.5 NA 3.3062 1321 9 123927477 123927477 T A intronic CNTRL NA NA NA intronic ENSG00000119397 NA NA NA NA NA 9q33.2 NA NA NA NA rs4836841 0.64 0.64 0.589 0.64397 0.6938 0.7778 0.7406 0.2564 0.91 0.69 0.8 0.75 0.26 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832342 NA NA NA NA NA 0.551 NA 3.3062 1321 12 8382209 8382209 C T intergenic FAM90A1,FAM86FP dist=1995;dist=1436 NA NA ncRNA_intronic ENSG00000254016 NA NA NA NA NA 12p13.31 NA NA NA NA rs9669714 0.55 0.55 0.558 0.515375 0.6938 0.4901 0.5288 0.3737 0.5399 0.67 0.5 0.56 0.39 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38512 NA NA NA NA ID=COSN164132;OCCURENCE=1(breast) NA NA 3.3062 1321 12 50290728 50290728 A G intronic FAIM2 NA NA NA intronic ENSG00000135472 NA NA NA NA NA 12q13.12 NA NA NA NA rs297935 0.73 0.73 0.686 0.715855 0.6938 0.8611 0.7824 0.5348 0.7863 0.69 0.89 0.79 0.54 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488783 NA NA NA NA NA 0.659 NA 3.3062 1321 17 73282299 73282299 C T intronic SLC25A19 NA NA NA intronic ENSG00000125454 NA NA NA NA NA 17q25.1 NA NA NA NA rs2306218 0.61 0.61 0.571 0.546725 0.6938 0.8393 0.6657 0.0832 0.636 0.71 0.91 0.63 0.1 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12875 NA NA NA NA NA 0.5 NA 3.3062 1321 1 19184176 19184176 G A intronic TAS1R2 NA NA NA intronic ENSG00000179002,ENSG00000255275 NA NA NA NA NA 1p36.13 NA NA NA NA rs72953138 0.2 0.2 0.213 0.188698 0.2455 0.0694 0.1873 0.3041 0.0982 0.25 0.06 0.22 0.29 0.2086 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372561 NA NA 0.239884 0.277576 NA 0.304 NA 3.306016 1321 19 56510965 56510965 C T upstream NLRP5 NA NA NA upstream ENSG00000171487 NA NA NA NA NA 19q13.43 NA NA NA NA rs62123572 0.32 0.32 0.297 0.289936 0.3608 0.4544 0.2781 0.0666 0.3579 0.37 0.48 0.31 0.07 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980771 NA NA NA NA NA 0.29 NA 3.3058666 1321 19 39416966 39416966 G T intronic SARS2 NA NA NA intronic ENSG00000104835,ENSG00000269547 NA NA NA NA NA 19q13.2 NA NA NA NA rs4803045 0.18 0.18 0.139 0.217452 0.2684 0.2192 0.2406 0.056 0.365 0.22 0.23 0.21 0.03 0.2569 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928427 NA NA 0.168953 0.047889 ID=COSN165811;OCCURENCE=1(breast) NA NA 3.305747 1321 6 161178421 161178421 T C intergenic PLG,MAP3K4 dist=3336;dist=234401 NA NA intergenic ENSG00000122194,ENSG00000223627 dist=4083;dist=58161 NA NA NA NA 6q26 NA NA NA NA rs139422027 0.01 0.01 0.009 0.0109824 0.0278 NA 0.0101 0.0008 0.0194 0.02 NA 0.01 NA NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333421 NA NA NA NA NA 0.007 NA 3.3055334 1321 10 97440394 97440394 T C intronic TCTN3 NA NA NA intronic ENSG00000119977 NA NA NA NA NA 10q24.1 NA NA NA NA rs12784530 0.18 0.18 0.15 0.16274 0.2525 0.0774 0.1873 0.1551 0.1513 0.25 0.09 0.23 0.16 0.2057 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.777914 NA NA 0.236279 0.169315 NA 0.203 NA 3.305521 1321 22 50302850 50302850 A G intronic ALG12 NA NA NA intronic ENSG00000182858 NA NA NA NA NA 22q13.33 NA NA NA NA rs4075331 0.34 0.34 0.374 0.401957 0.2097 0.1776 0.1888 0.8253 0.41 0.22 0.18 0.2 0.83 0.2704 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.808444 NA NA 0.214419 0.71153 ID=COSN166788;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.471 NA 3.305481 1321 7 149522366 149522366 T G intronic SSPO NA NA NA ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs2074697 0.47 0.47 0.462 0.494609 0.3101 0.4296 0.3919 0.851 0.3425 0.3 0.43 0.4 0.83 0.3827 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403961 NA NA 0.335065 0.746818 NA 0.514 NA 3.3054683 1321 7 26778406 26778406 A G intronic SKAP2 NA NA NA intronic ENSG00000005020 NA NA NA NA NA 7p15.2 Score=870;Name=V$HNF3B_01 NA NA NA rs10951145 0.63 0.63 0.593 0.627796 0.5537 0.8542 0.6196 0.4962 0.6544 0.57 0.86 0.62 0.47 0.5984 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.639407 2.639407 NA 0.542558 0.496142 NA 0.5 NA 3.305342 1321 14 106494503 106494503 G A intergenic ADAM6,LINC00226 dist=56145;dist=249766 NA NA intronic ENSG00000211937 NA NA NA NA NA 14q32.33 NA NA NA NA rs17705658 0.08 0.08 0.051 0.072484 0.1332 0.002 0.1326 0.034 0.092 0.13 NA 0.16 0.03 0.1059 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374446 NA NA 0.122283 0.055854 NA 0.094 NA 3.3052837 1321 1 63113511 63113511 C A intronic DOCK7 NA NA NA intronic ENSG00000116641 NA NA NA NA NA 1p31.3 NA NA NA NA rs746735 0.63 0.63 0.595 0.574681 0.6948 0.7669 0.6124 0.3472 0.5337 0.69 0.78 0.66 0.33 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121124 NA NA NA NA NA 0.609 NA 3.3052 1321 1 63113719 63113719 T C intronic DOCK7 NA NA NA intronic ENSG00000116641 NA NA NA NA NA 1p31.3 NA NA NA NA rs1168089 0.63 0.63 0.612 0.571885 0.6948 0.7679 0.6124 0.3359 0.5337 0.69 0.78 0.66 0.33 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590865 NA NA NA NA NA 0.58 NA 3.3052 1321 9 123370345 123370345 C G intronic MEGF9 NA NA NA intronic ENSG00000106780 NA NA NA NA NA 9q33.2 NA NA NA NA rs991121 0.55 0.55 0.508 0.566494 0.6948 0.5843 0.7334 0.2421 0.7362 0.69 0.56 0.71 0.22 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.289308 1.289308 NA NA NA NA 0.565 NA 3.3052 1321 19 39416967 39416967 A T intronic SARS2 NA NA NA intronic ENSG00000104835,ENSG00000269547 NA NA NA NA NA 19q13.2 NA NA NA NA rs4803046 0.18 0.18 0.146 0.217452 0.2684 0.2192 0.2406 0.056 0.365 0.22 0.23 0.21 0.03 0.257 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230795 NA NA 0.169535 0.051067 ID=COSN165812;OCCURENCE=1(breast) NA NA 3.305065 1322 19 371369 371369 G T intronic THEG NA NA NA intronic ENSG00000105549 NA NA NA NA NA 19p13.3 NA NA NA NA rs644609 0.26 0.26 0.063 0.244808 0.3777 0.2381 0.2061 0.1596 0.2577 0.36 0.23 0.24 0.15 0.2456 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.131181 NA NA 0.07186 0.029746 NA 0.13 NA 3.30484 1322 15 42127734 42127734 A G intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA NA NA rs2241522 0.26 0.26 0.236 0.261581 0.3559 0.1806 0.4164 0.1014 0.3548 0.37 0.17 0.4 0.11 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372672 NA NA 0.339475 0.151786 ID=COSN164918;OCCURENCE=1(breast) 0.188 NA 3.304625 1322 22 20128651 20128651 T G intronic ZDHHC8 NA NA NA intronic ENSG00000099904 NA NA NA NA NA 22q11.21 NA NA NA NA rs175175 0.78 0.78 0.763 0.782548 0.6958 0.8075 0.817 0.8752 0.6963 0.7 0.8 0.78 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.084379 NA NA NA NA NA 0.696 NA 3.3042 1322 3 108295067 108295067 G A intronic KIAA1524 NA NA NA intronic ENSG00000163507 NA NA NA NA NA 3q13.13 NA NA NA NA rs16854713 0.23 0.23 0.217 0.254193 0.2157 0.4554 0.2695 0.0567 0.3425 0.22 0.39 0.25 0.04 0.2569 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190874 NA NA 0.223506 0.086199 ID=COSN166962;OCCURENCE=1(large_intestine) 0.152 NA 3.303894 1322 1 116260532 116260532 A T intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA Name=CTCF NA NA rs2997741 0.65 0.65 0.661 0.642772 0.5656 0.6706 0.6383 0.7057 0.6115 0.58 0.68 0.64 0.73 0.5802 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503796 NA NA 0.550465 0.694507 NA 0.732 NA 3.303735 1322 20 57867301 57867301 G A intergenic ZNF831,EDN3 dist=33134;dist=8198 NA NA intergenic ENSG00000124203,ENSG00000124205 dist=33133;dist=8181 NA NA NA NA 20q13.32 NA NA NA NA rs142835180 0.02 0.02 0.015 0.0191693 0.0298 NA 0.013 0.0015 0.0562 0.03 NA 0.02 0.002 NA 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611871 NA NA NA NA NA NA NA 3.3035334 1322 18 693828 693828 A C intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA NA NA rs2305996 0.26 0.26 0.25 0.250599 0.3469 0.0923 0.3487 0.2769 0.2096 0.34 0.08 0.33 0.29 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705412 NA NA 0.34978 0.24711 NA 0.268 NA 3.30332 1322 12 99116919 99116919 A G intronic APAF1 NA NA NA intronic ENSG00000120868 NA NA NA NA NA 12q23.1 NA NA NA NA rs11109582 0.36 0.36 0.323 0.347843 0.3678 0.4871 0.4409 0.1785 0.3466 0.36 0.49 0.42 0.16 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736642 NA NA 0.32898 0.204909 NA 0.341 NA 3.30322 1322 2 202608877 202608877 C A intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA NA NA 2q33.1 NA NA NA NA rs4673207 0.51 0.51 0.468 0.459864 0.6968 0.373 0.7464 0.2436 0.3947 0.68 0.39 0.73 0.25 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175297 NA NA NA NA NA 0.522 NA 3.3032 1322 3 58270963 58270963 T C intronic ABHD6 NA NA NA intronic ENSG00000163686 NA NA NA NA NA 3p14.3 NA NA NA NA rs6774235 0.84 0.84 0.841 0.859425 0.6968 1 0.8098 0.9153 0.8415 0.72 1 0.81 0.89 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166406 NA NA NA NA NA 0.855 NA 3.3032 1322 6 29769521 29769521 A G intergenic LOC554223,HLA-G dist=3937;dist=25235 NA NA ncRNA_exonic ENSG00000261548 NA NA NA NA NA 6p22.1 NA NA NA NA rs1736982 0.69 0.69 0.699 0.688299 0.6968 0.5595 0.7176 0.8714 0.544 0.68 0.56 0.69 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141047 NA NA NA NA NA 0.659 NA 3.3032 1322 8 6390079 6390079 G A intronic ANGPT2,MCPH1 NA NA NA intronic ENSG00000091879,ENSG00000147316 NA NA NA NA NA 8p23.1 NA NA NA NA rs2515482 0.65 0.65 0.649 0.619209 0.6968 0.5526 0.7104 0.6596 0.4888 0.7 0.54 0.7 0.66 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34856 NA NA NA NA NA 0.703 NA 3.3032 1322 4 167675635 167675635 G A UTR3 SPOCK3 NM_001204358:c.*13C>T NA NA UTR3 ENSG00000196104 ENST00000512648:c.*13C>T NA NA NA NA 4q32.3 NA NA NA NA rs2305593 0.35 0.35 0.326 0.358427 0.3489 0.3492 0.5159 0.295 0.3517 0.34 0.35 0.45 0.3 0.3649 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.154599 NA NA 0.31686 0.301407 NA 0.268 NA 3.3026734 1322 7 140069361 140069361 G C intronic SLC37A3 NA NA NA intronic ENSG00000157800 NA NA NA NA NA 7q34 NA Name=MafK_(ab50322) NA NA rs4448174 0.54 0.54 0.533 0.54992 0.5676 0.5417 0.451 0.5174 0.6544 0.57 0.55 0.49 0.52 0.5668 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525794 NA NA 0.56314 0.54562 NA 0.659 NA 3.30246 1322 3 13669537 13669537 T G intronic FBLN2 NA NA NA intronic ENSG00000163520 NA NA NA NA NA 3p25.1 NA NA NA NA rs1966825 0.82 0.82 0.789 0.826078 0.6978 0.9931 0.8487 0.8238 0.773 0.69 0.99 0.84 0.82 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372957 NA NA NA NA NA 0.848 NA 3.3022 1322 12 6620495 6620495 G T intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs7358768 0.65 0.65 0.639 0.654752 0.6978 0.5456 0.7651 0.6528 0.6472 0.68 0.53 0.75 0.65 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896095 NA NA NA NA NA 0.688 NA 3.3022 1322 16 28913787 28913787 T C intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA rs7189927 0.75 0.75 0.781 0.752596 0.6978 0.873 0.5245 0.7837 0.8047 0.69 0.87 0.62 0.81 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716448 NA NA NA NA NA 0.833 NA 3.3022 1322 16 58296545 58296545 G A intronic CCDC113 NA NA NA intronic ENSG00000103021 NA NA NA NA NA 16q21 NA NA NA NA rs3815802 0.73 0.73 0.723 0.729233 0.6978 0.6577 0.5965 0.9599 0.6176 0.7 0.63 0.63 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336136 NA NA NA NA NA 0.783 NA 3.3022 1322 17 78061353 78061353 G A intronic CCDC40 NA NA NA intronic ENSG00000141519 NA NA NA NA NA 17q25.3 NA NA NA NA rs11150840 0.64 0.64 0.633 0.651158 0.6978 0.6111 0.5346 0.6248 0.7628 0.71 0.63 0.54 0.61 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788597 NA NA NA NA NA 0.616 NA 3.3022 1322 22 26193824 26193824 C T intronic MYO18B NA NA NA intronic ENSG00000133454 NA NA NA NA NA 22q12.1 NA NA NA NA rs2877299 0.58 0.58 0.533 0.554113 0.6978 0.6617 0.6268 0.261 0.6401 0.69 0.66 0.61 0.27 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021256 NA NA NA NA NA 0.529 NA 3.3022 1322 11 89413850 89413850 C T intronic FOLH1B NA NA NA ncRNA_intronic ENSG00000134612 NA NA NA NA NA 11q14.3 NA NA NA NA rs10830340 0.22 0.22 0.16 0.226038 0.3708 0.131 0.2493 0.1626 0.2444 0.3 0.13 0.27 0.16 0.295 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365562 NA NA 0.365546 0.205227 NA 0.254 NA 3.3019873 1322 1 19581226 19581226 G A intronic MRTO4 NA NA NA intronic ENSG00000053372 NA NA NA NA NA 1p36.13 NA NA NA NA rs735026 0.25 0.25 0.268 0.251797 0.2266 0.1032 0.183 0.4932 0.1534 0.24 0.1 0.2 0.47 0.2268 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335187 NA NA 0.244767 0.474353 ID=COSN162986;OCCURENCE=1(breast) 0.442 NA 3.301833 1322 8 13072177 13072177 C T intronic DLC1 NA NA NA exonic ENSG00000164741 NA synonymous SNV ENSG00000164741:ENST00000316609:exon6:c.G1455A:p.Q485Q NA NA 8p22 NA NA NA NA rs3739300 0.64 0.64 0.67 0.659944 0.4732 0.8542 0.5504 0.7852 0.5603 0.47 0.87 0.49 0.74 0.5495 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.685413 NA NA 0.508953 0.730595 NA 0.681 NA 3.3016803 1322 19 1796943 1796943 C T intronic ATP8B3 NA NA NA intronic ENSG00000130270 NA NA NA NA NA 19p13.3 NA NA NA NA rs62127692 0.18 0.18 0.2 0.193091 0.2535 0.1042 0.1153 0.1884 0.2843 0.25 0.1 0.14 0.21 0.2186 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.476522 NA NA 0.226438 0.184749 NA 0.13 NA 3.301462 1322 11 2683357 2683357 A G ncRNA_exonic KCNQ1OT1 NA NA NA ncRNA_exonic ENSG00000269821 NA NA NA NA NA 11p15.5 NA NA NA NA rs760419 0.5 0.5 0.527 0.519768 0.4523 0.3313 0.366 0.8578 0.4356 0.46 0.36 0.4 0.82 0.4492 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007249 NA NA 0.463712 0.796094 NA 0.435 NA 3.3014546 1322 20 50287790 50287790 A G exonic ATP9A NA synonymous SNV ATP9A:NM_006045:exon12:c.T1044C:p.R348R exonic ENSG00000054793 NA synonymous SNV ENSG00000054793:ENST00000311637:exon7:c.T636C:p.R212R,ENSG00000054793:ENST00000402822:exon7:c.T681C:p.R227R,ENSG00000054793:ENST00000338821:exon12:c.T1044C:p.R348R NA NA 20q13.2 NA NA NA NA rs2255342 0.72 0.72 0.69 0.704073 0.7942 0.7976 0.7046 0.5091 0.7781 0.78 0.81 0.73 0.5 0.7666 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303567 NA NA 0.804419 0.592147 NA 0.746 NA 3.3014476 1322 8 72965973 72965973 G A ncRNA_exonic LOC100132891 NA NA NA intronic ENSG00000104321,ENSG00000235531 NA NA NA NA NA 8q13.3 NA NA NA NA rs3735942 0.43 0.43 0.383 0.424121 0.3062 0.5585 0.572 0.3601 0.3885 0.32 0.57 0.52 0.36 0.4013 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440809 NA NA 0.324535 0.381979 NA 0.384 NA 3.3012983 1322 3 29977739 29977739 T C intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA Name=JunD,IRF4_(M-17) Name=13 NA rs1449287 0.86 0.86 0.843 0.838858 0.9046 0.9544 0.8545 0.6672 0.8732 0.92 0.95 0.83 0.67 0.8864 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585086 NA NA 0.907752 0.712509 NA 0.848 NA 3.301248 1322 1 152193544 152193544 A G exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.T561C:p.H187H exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.T561C:p.H187H NA NA 1q21.3 NA NA NA NA rs7535536 0.59 0.59 0.584 0.531949 0.829 0.3274 0.5519 0.469 0.5082 0.82 0.36 0.63 0.47 0.7062 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059929 NA NA 0.830233 0.524058 ID=COSM146615;OCCURENCE=1(stomach) 0.688 NA 3.3012336 1322 1 11292666 11292666 T A intronic MTOR NA NA NA intronic ENSG00000198793 NA NA NA NA NA 1p36.22 NA NA NA NA rs10864495 0.59 0.59 0.528 0.542332 0.6988 0.7917 0.6902 0.0923 0.6278 0.71 0.8 0.69 0.1 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370113 NA NA NA NA NA 0.558 NA 3.3012 1322 1 11319587 11319587 A G intronic MTOR NA NA NA intronic ENSG00000198793 NA NA NA NA NA 1p36.22 NA NA NA NA rs4845988 0.59 0.59 0.543 0.538339 0.6988 0.7718 0.6902 0.0923 0.6278 0.71 0.79 0.69 0.1 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066206 NA NA NA NA NA 0.558 NA 3.3012 1322 1 45453893 45453893 A C intergenic EIF2B3,HECTD3 dist=1499;dist=14327 NA NA downstream ENSG00000232369,ENSG00000268949 NA NA NA NA NA 1p34.1 NA NA NA NA rs7553658 0.31 0.31 0.285 0.323283 0.1988 0.2758 0.4337 0.5015 0.181 0.2 0.25 0.36 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346308 NA NA NA NA NA 0.355 NA 3.3012 1322 1 45457681 45457681 G A intergenic EIF2B3,HECTD3 dist=5287;dist=10539 NA NA upstream ENSG00000268949 NA NA NA NA NA 1p34.1 NA NA NA NA rs12126314 0.31 0.31 0.309 0.322883 0.1988 0.2748 0.4323 0.5015 0.181 0.2 0.25 0.36 0.48 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557429 NA NA NA NA ID=COSN163069;OCCURENCE=1(breast) 0.341 NA 3.3012 1322 16 28906084 28906084 G C intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA rs9931989 0.75 0.75 0.771 0.750799 0.6988 0.874 0.5245 0.7738 0.8067 0.69 0.87 0.62 0.8 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200541 NA NA NA NA NA 0.855 NA 3.3012 1322 21 35228953 35228953 A G intronic ITSN1 NA NA NA intronic ENSG00000205726,ENSG00000249209 NA NA NA NA NA 21q22.11 NA NA NA NA rs9305535 0.67 0.67 0.659 0.671326 0.6988 0.9048 0.5821 0.4024 0.8292 0.7 0.92 0.61 0.4 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65303 NA NA NA NA NA 0.616 NA 3.3012 1322 16 56504724 56504724 G C intronic OGFOD1 NA NA NA intronic ENSG00000087263,ENSG00000125124 NA NA NA NA NA 16q12.2 NA NA NA NA rs13337155 0.13 0.13 0.133 0.145367 0.2137 0.0615 0.1369 0.0893 0.2434 0.22 0.05 0.15 0.08 0.2478 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086491 NA NA 0.237558 0.120109 NA 0.159 NA 3.300942 1322 2 118694393 118694393 C G intronic CCDC93 NA NA NA intronic ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs2303333 0.33 0.33 0.328 0.343051 0.3509 0.1399 0.2507 0.5658 0.3088 0.36 0.12 0.29 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194885 NA NA 0.348523 0.493497 NA 0.42 NA 3.300577 1322 3 108394771 108394771 G A intronic DZIP3 NA NA NA intronic ENSG00000198919 NA NA NA NA NA 3q13.13 NA NA NA NA rs12486790 0.23 0.23 0.223 0.253794 0.2157 0.4554 0.268 0.0567 0.3415 0.22 0.39 0.25 0.04 0.2575 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307488 NA NA 0.226384 0.089237 ID=COSN166965;OCCURENCE=1(large_intestine) 0.217 NA 3.300416 1322 5 70834926 70834926 T C intronic BDP1 NA NA NA intronic ENSG00000145734 NA NA NA NA NA 5q13.2 NA NA NA NA rs276589 0.35 0.35 0.315 NA NA NA NA NA NA 0.33 0.52 0.44 0.1 0.3551 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.704202 3.704202 NA 0.344591 0.150353 NA 0.29 NA 3.300309 1322 1 6314479 6314479 C T intronic GPR153 NA NA NA intronic ENSG00000158292 NA NA NA NA NA 1p36.31 NA NA NA NA rs12740426 0.58 0.58 0.544 0.565296 0.6998 0.5853 0.745 0.2731 0.6738 0.71 0.57 0.72 0.3 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.659602 NA NA NA NA NA 0.478 NA 3.3002 1322 4 159390809 159390809 T A intergenic TMEM144,RXFP1 dist=214370;dist=52057 NA NA ncRNA_exonic ENSG00000248387 NA NA NA NA NA 4q32.1 NA NA NA NA rs12648694 0.66 0.66 0.62 0.59385 0.6998 0.9454 0.6744 0.2042 0.592 0.71 0.96 0.68 0.23 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699206 NA NA NA NA NA 0.493 NA 3.3002 1322 4 159391086 159391086 C T intergenic TMEM144,RXFP1 dist=214647;dist=51780 NA NA ncRNA_intronic ENSG00000248387 NA NA NA NA NA 4q32.1 NA NA NA NA rs12646075 0.66 0.66 0.621 0.59385 0.6998 0.9454 0.6744 0.2042 0.592 0.71 0.96 0.68 0.23 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.041821 NA NA NA NA NA 0.493 NA 3.3002 1322 16 28915217 28915217 G A intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA rs8046545 0.79 0.79 0.822 0.816693 0.6998 0.8839 0.5403 0.9849 0.8364 0.69 0.87 0.63 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542817 NA NA NA NA NA 0.181 NA 3.3002 1322 20 9543681 9543681 C T intronic PAK7 NA NA NA intronic ENSG00000101349 NA NA NA NA NA 20p12.2 NA NA NA NA rs2297346 0.33 0.33 0.363 0.34984 0.2266 0.2143 0.2089 0.7073 0.2331 0.23 0.22 0.23 0.71 0.2496 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279971 NA NA 0.223605 0.639809 NA 0.377 NA 3.300195 1322 1 19583684 19583684 C T intronic MRTO4 NA NA NA intronic ENSG00000053372 NA NA NA NA NA 1p36.13 NA NA NA NA rs1774074 0.25 0.25 0.252 0.251398 0.2266 0.1012 0.183 0.4932 0.1534 0.24 0.1 0.2 0.47 0.2287 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098167 NA NA 0.244535 0.47458 ID=COSN162987;OCCURENCE=1(breast) 0.442 NA 3.300165 1322 7 2260499 2260499 C T intronic MAD1L1 NA NA NA intronic ENSG00000002822 NA NA NA NA NA 7p22.3 NA NA NA NA rs1637731 0.27 0.27 0.28 0.263778 0.2376 0.0962 0.2608 0.4539 0.2086 0.23 0.13 0.26 0.5 0.2402 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238372 NA NA 0.22225 0.384132 NA 0.283 NA 3.29995 1322 8 59739333 59739333 C T intronic TOX NA NA NA intronic ENSG00000198846 NA NA NA NA NA 8q12.1 NA NA NA NA rs4737522 0.15 0.15 0.141 0.154553 0.2525 0.0595 0.1556 0.0794 0.2526 0.26 0.06 0.18 0.08 0.2111 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911827 NA NA 0.236977 0.095325 NA 0.123 NA 3.299423 1322 17 21215424 21215424 G A intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs35026048 0.35 0.35 0.29 0.000199681 NA 0.001 NA NA NA 0.39 0.17 0.35 0.49 0.3606 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858141 NA NA 0.340116 0.453473 NA 0.196 NA 3.299284 1322 9 124282740 124282740 A G intergenic GGTA1P,DAB2IP dist=20434;dist=46659 NA NA upstream ENSG00000213467 NA NA NA NA NA 9q33.2 NA NA NA NA rs3962628 0.27 0.27 0.223 0.259784 0.2008 0.3323 0.1585 0.3949 0.135 0.19 0.33 0.2 0.37 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896341 NA NA NA NA NA 0.29 NA 3.2992 1322 14 34955132 34955132 A C intergenic SPTSSA,EAPP dist=23664;dist=30003 NA NA upstream ENSG00000237450 NA NA NA NA NA 14q13.1 NA NA NA NA rs17523454 0.2 0.2 0.211 0.210863 0.2008 0.1637 0.2522 0.1808 0.2812 0.19 0.21 0.23 0.19 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485348 NA NA NA NA NA 0.123 NA 3.2992 1322 17 3419689 3419689 C T intronic TRPV3 NA NA NA intronic ENSG00000167723 NA NA NA NA NA 17p13.2 NA NA NA NA rs8081785 0.54 0.54 0.577 0.588259 0.7008 0.6349 0.7161 0.3933 0.5971 0.62 0.59 0.62 0.3 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.865927 NA NA NA NA NA NA NA 3.2992 1322 2 127821085 127821085 C T intronic BIN1 NA NA NA intronic ENSG00000136717 NA NA NA NA NA 2q14.3 NA NA NA NA rs2071268 0.33 0.33 0.284 0.345248 0.3658 0.3879 0.3991 0.1543 0.5 0.36 0.38 0.44 0.15 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562517 NA NA 0.335009 0.16474 NA 0.232 NA 3.299191 1322 3 150845574 150845574 C T intronic MED12L NA NA NA intronic ENSG00000144893 NA NA NA NA NA 3q25.1 NA NA NA NA rs1897296 0.38 0.38 0.4 0.389377 0.2296 0.4603 0.2752 0.612 0.2607 0.22 0.46 0.28 0.59 0.2695 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907844 NA NA 0.201722 0.543389 NA 0.37 NA 3.299178 1322 5 149602363 149602363 T A intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA NA NA NA rs17712679 0.31 0.31 0.291 0.309904 0.3419 0.1558 0.3862 0.3759 0.2924 0.35 0.16 0.39 0.38 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510963 NA NA 0.359208 0.356936 NA 0.384 NA 3.298892 1322 12 100709313 100709313 T A intronic SCYL2 NA NA NA intronic ENSG00000136021 NA NA NA NA NA 12q23.1 NA NA NA NA rs7968030 0.18 0.18 0.066 0.176518 0.2833 0.0823 0.2594 0.1014 0.2065 0.27 0.1 0.26 0.09 0.2448 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187564 NA NA 0.173584 0.077362 NA 0.051 NA 3.298316 1322 10 90767395 90767395 G C intronic FAS NA NA NA intronic ENSG00000026103 NA NA NA NA NA 10q23.31 NA NA NA NA rs2031611 0.79 0.79 0.786 0.808706 0.7018 0.9573 0.8026 0.7693 0.8231 0.7 0.96 0.77 0.75 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531746 NA NA NA NA NA 0.754 NA 3.2982 1322 12 76509532 76509532 T G intergenic NAP1L1,BBS10 dist=30794;dist=228734 NA NA ncRNA_exonic ENSG00000258304 NA NA NA NA NA 12q21.2 NA NA NA NA rs4077263 0.7 0.7 0.685 0.703874 0.7018 0.8909 0.7291 0.4478 0.8415 0.7 0.9 0.69 0.48 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.558172 NA NA NA NA NA 0.609 NA 3.2982 1322 14 103918182 103918182 G C intronic MARK3 NA NA NA intronic ENSG00000075413 NA NA NA NA NA 14q32.32 NA NA NA NA rs2273702 0.59 0.59 0.568 0.535942 0.7018 0.501 0.6225 0.4319 0.4806 0.71 0.5 0.67 0.44 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.389581 NA NA NA NA NA 0.543 NA 3.2982 1322 16 9010213 9010213 T G intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA NA NA rs7195624 0.62 0.62 0.632 0.628395 0.7018 0.6458 0.5692 0.587 0.6329 0.69 0.63 0.56 0.57 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038906 NA NA NA NA NA 0.601 NA 3.2982 1322 19 8156290 8156290 A G intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs8104453 0.69 0.69 0.716 0.671126 0.7018 0.4623 0.7089 0.9395 0.4652 0.7 0.47 0.7 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103998 NA NA NA NA NA 0.667 NA 3.2982 1322 10 129202729 129202729 G T intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs2296630 0.23 0.23 0.211 0.227636 0.2366 0.2827 0.2176 0.1604 0.2597 0.25 0.25 0.25 0.16 0.2369 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34177 NA NA 0.228859 0.167194 NA 0.239 NA 3.297641 1322 5 635709 635709 C T intronic CEP72 NA NA NA intronic ENSG00000112877 NA NA NA NA NA 5p15.33 NA NA NA NA rs1697985 0.3 0.3 0.278 0.282947 0.2286 0.4683 0.2522 0.3086 0.135 0.23 0.43 0.25 0.32 0.246 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327296 NA NA 0.227791 0.283477 NA 0.29 NA 3.297609 1322 1 103483514 103483514 C T intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs945748 0.65 0.65 0.632 0.638978 0.7028 0.9117 0.6902 0.2012 0.8476 0.71 0.91 0.72 0.22 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184604 NA NA NA NA NA 0.674 NA 3.2972 1322 2 63605430 63605430 A G intronic WDPCP NA NA NA intronic ENSG00000143951 NA NA NA NA NA 2p15 NA NA NA NA rs2292795 0.85 0.85 0.861 0.873802 0.7028 0.9524 0.8386 0.9788 0.8517 0.72 0.96 0.8 0.95 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346031 NA NA NA NA NA 0.877 NA 3.2972 1322 2 197066175 197066175 T G intronic HECW2 NA NA NA intronic ENSG00000138411 NA NA NA NA NA 2q32.3 NA NA NA NA rs4566380 0.72 0.72 0.646 0.724641 0.7028 0.8343 0.768 0.6014 0.7699 0.7 0.85 0.73 0.61 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848046 NA NA NA NA NA 0.514 NA 3.2972 1322 5 5232398 5232398 G A intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs2913624 0.77 0.77 0.776 0.765575 0.7028 0.7937 0.7349 0.882 0.6656 0.71 0.76 0.75 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784441 NA NA NA NA NA 0.717 NA 3.2972 1322 6 56468537 56468537 T C ncRNA_intronic RNU6-71P NA NA NA intronic ENSG00000151914 NA NA NA NA NA 6p12.1 NA NA NA NA rs9382656 0.27 0.27 0.266 0.245008 0.3529 0.2292 0.3444 0.1422 0.2188 0.34 0.23 0.35 0.15 0.3169 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.736143 NA NA 0.366399 0.190639 NA 0.304 NA 3.2971343 1322 19 39406442 39406442 G A intronic SARS2 NA NA NA intronic ENSG00000104835,ENSG00000269547 NA NA NA NA NA 19q13.2 NA NA NA NA rs11670675 0.18 0.18 0.148 0.178315 0.2416 0.2054 0.1513 0.0189 0.32 0.23 0.22 0.17 0.03 0.2203 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935698 NA NA 0.241103 0.054748 NA 0.196 NA 3.296997 1322 1 201861016 201861016 C G UTR3 SHISA4 NM_198149:c.*42C>G NA NA UTR3 ENSG00000198892 ENST00000362011:c.*42C>G NA NA NA NA 1q32.1 NA NA NA NA rs2279681 0.33 0.33 0.327 0.298522 0.3618 0.3552 0.2262 0.2806 0.2505 0.36 0.4 0.27 0.24 0.3225 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.979257 2.979257 NA 0.352209 0.286201 NA 0.406 NA 3.2968244 1322 16 313406 313406 A G intronic ITFG3 NA NA NA intronic ENSG00000167930,ENSG00000269881 NA NA NA NA NA 16p13.3 NA NA NA NA rs7189326 0.38 0.38 0.375 0.400958 0.1998 0.4732 0.3285 0.6346 0.2689 0.19 0.46 0.3 0.63 0.2863 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301995 NA NA 0.217253 0.514326 NA 0.377 NA 3.296647 1322 4 189745585 189745585 T A intergenic LOC401164,FRG1 dist=222523;dist=1116389 NA NA intergenic ENSG00000250626,ENSG00000250024 dist=27798;dist=166284 NA NA NA NA 4q35.2 NA NA NA NA rs141225288 0.02 0.02 0.016 0.0251597 0.0368 0.001 0.0259 0.0295 0.0317 0.03 NA 0.01 0.04 NA 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627759 NA NA NA NA NA 0.022 NA 3.2965334 1322 3 194379596 194379596 C A intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs1705971 0.66 0.66 0.632 0.63738 0.7038 0.8651 0.6282 0.3366 0.7474 0.72 0.86 0.63 0.35 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725209 NA NA NA NA NA 0.543 NA 3.2962 1322 3 194390617 194390617 G C intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs1773230 0.67 0.67 0.651 0.667332 0.7038 0.8651 0.6412 0.4433 0.7474 0.7 0.85 0.63 0.45 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062578 NA NA NA NA NA 0.609 NA 3.2962 1322 7 107303628 107303628 C T intronic SLC26A4 NA NA NA intronic ENSG00000091137 NA NA NA NA NA 7q22.3 NA NA NA NA rs2248465 0.62 0.62 0.619 0.658546 0.7038 0.4782 0.7046 0.6505 0.7761 0.7 0.44 0.68 0.67 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.493637 NA NA NA NA NA 0.652 NA 3.2962 1322 8 70856897 70856897 A G intergenic SLCO5A1,PRDM14 dist=109598;dist=106989 NA NA downstream ENSG00000247570 NA NA NA NA NA 8q13.3 NA NA NA NA rs17671808 0.16 0.16 0.156 0.173522 0.2038 0.0972 0.2205 0.1112 0.272 0.18 0.13 0.22 0.13 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472202 NA NA NA NA NA 0.181 NA 3.2962 1322 10 81318545 81318545 A T intronic SFTPA2 NA NA NA intronic ENSG00000185303 NA NA NA NA NA 10q22.3 NA NA NA NA rs2217231 0.68 0.68 0.712 0.685104 0.7038 0.4554 0.7493 0.8676 0.6104 0.72 0.42 0.74 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008722 NA NA NA NA NA 0.804 NA 3.2962 1322 11 123597804 123597804 A G intronic ZNF202 NA NA NA intronic ENSG00000166261 NA NA NA NA NA 11q24.1 NA NA NA NA rs679597 0.66 0.66 0.665 0.661542 0.7038 0.4812 0.6715 0.7542 0.6718 0.69 0.51 0.72 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568037 NA NA NA NA NA 0.558 NA 3.2962 1322 17 59372034 59372034 T G intronic BCAS3 NA NA NA intronic ENSG00000141376 NA NA NA NA NA 17q23.2 NA NA NA NA rs12948356 0.62 0.62 0.571 0.618411 0.7038 0.7698 0.7781 0.2943 0.6994 0.69 0.75 0.76 0.28 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.545697 1.545697 NA NA NA NA 0.384 NA 3.2962 1322 19 49424354 49424354 C T intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs12979307 0.45 0.45 0.425 0.449281 0.7038 0.3859 0.5749 0.0386 0.7188 0.72 0.37 0.57 0.07 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056605 NA NA NA NA NA 0.391 NA 3.2962 1322 19 7712193 7712193 G A intronic STXBP2 NA NA NA intronic ENSG00000076944 NA NA NA NA NA 19p13.2 NA NA NA NA rs809916 0.2 0.2 0.175 0.171925 0.2614 0.1032 0.2147 0.1672 0.1268 0.26 0.11 0.24 0.19 0.2103 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.21104 NA NA 0.232287 0.186335 NA 0.188 NA 3.296013 1322 2 43799070 43799070 C T intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA NA NA 2p21 NA NA NA NA rs3752355 0.63 0.63 0.664 0.64357 0.7048 0.2897 0.4582 0.9213 0.7014 0.7 0.32 0.51 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080959 NA NA NA NA NA 0.688 NA 3.2952 1322 5 127613791 127613791 C G intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA NA NA 5q23.3 NA NA NA NA rs426987 0.73 0.73 0.734 0.725839 0.7048 0.8532 0.7133 0.6059 0.7873 0.72 0.86 0.69 0.62 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173807 NA NA NA NA NA 0.572 NA 3.2952 1322 7 50799889 50799889 C T intronic GRB10 NA NA NA intronic ENSG00000106070 NA NA NA NA NA 7p12.1 NA NA NA NA rs2074777 0.57 0.57 0.538 0.560304 0.7048 0.756 0.5591 0.2231 0.6667 0.69 0.72 0.59 0.21 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024495 NA NA NA NA NA 0.565 NA 3.2952 1322 19 49424925 49424925 C T intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs11671777 0.46 0.46 0.419 0.448482 0.7048 0.3859 0.5749 0.0386 0.7137 0.72 0.37 0.57 0.07 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302886 NA NA NA NA NA 0.406 NA 3.2952 1323 9 116810890 116810890 A G intronic ZNF618 NA NA NA intronic ENSG00000157657 NA NA NA NA NA 9q32 NA NA NA NA rs3827675 0.17 0.17 0.135 0.172125 0.2654 0.0476 0.2594 0.0703 0.2802 0.27 0.05 0.26 0.08 0.2086 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318427 NA NA 0.231297 0.086763 NA 0.167 NA 3.294703 1323 14 96135857 96135857 C T ncRNA_intronic TCL6 NA NA NA ncRNA_exonic ENSG00000187621 NA NA NA NA NA 14q32.13 NA NA NA NA rs1748965 0.4 0.4 0.361 0.41254 0.4493 0.5556 0.4712 0.0847 0.6288 0.47 0.54 0.48 0.08 0.4577 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745702 NA NA 0.465 0.159101 NA 0.428 NA 3.2946666 1323 2 234104029 234104029 G A intronic INPP5D NA NA NA intronic ENSG00000168918 NA NA NA NA NA 2q37.1 NA NA NA NA rs6706611 0.27 0.27 0.25 0.276558 0.2346 0.3522 0.3631 0.1906 0.2965 0.23 0.33 0.33 0.22 0.2482 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136761 NA NA 0.222877 0.196684 NA 0.21 NA 3.294323 1323 1 183085696 183085696 A G intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA Name=15 NA rs6424888 0.53 0.53 0.502 0.530152 0.5636 0.628 0.6254 0.3268 0.6022 0.57 0.58 0.58 0.38 0.5727 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556688 NA NA 0.569419 0.373808 NA 0.442 NA 3.294281 1323 3 109050980 109050980 T C intronic DPPA4 NA NA NA intronic ENSG00000121570 NA NA NA NA NA 3q13.13 NA NA NA NA rs1163438 0.85 0.85 0.84 0.886182 0.7058 0.999 0.8156 0.9546 0.9131 0.71 1 0.79 0.94 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005518 NA NA NA NA NA 0.775 NA 3.2942 1323 20 44418471 44418471 G C intronic WFDC3 NA NA NA intronic ENSG00000124116 NA NA NA NA NA 20q13.12 NA NA NA NA rs411945 0.69 0.69 0.69 0.670327 0.7058 0.6458 0.7968 0.6944 0.5368 0.73 0.62 0.77 0.65 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187788 NA NA NA NA NA 0.79 NA 3.2942 1323 22 30730711 30730711 A G intronic SF3A1 NA NA NA intronic ENSG00000099995 NA NA NA NA NA 22q12.2 NA NA NA NA rs5749063 0.18 0.18 0.165 0.153754 0.2535 0.1448 0.1571 0.1324 0.0869 0.24 0.12 0.17 0.14 0.1961 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.070827 NA NA 0.256279 0.151384 NA 0.275 NA 3.294121 1323 1 45479772 45479772 G T intronic UROD NA NA NA intronic ENSG00000126088 NA NA NA NA NA 1p34.1 NA NA NA NA rs11211066 0.24 0.24 0.21 0.245607 0.2087 0.2887 0.4107 0.1551 0.2444 0.21 0.27 0.34 0.16 0.2563 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564237 NA NA 0.24093 0.164094 NA 0.341 NA 3.29407 1323 17 74396421 74396421 G C intronic UBE2O NA NA NA intronic ENSG00000175931 NA NA NA NA NA 17q25.1 NA NA NA NA rs3809691 0.36 0.36 0.379 0.348442 0.2068 0.4891 0.2911 0.4433 0.2618 0.2 0.53 0.3 0.46 0.2704 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123974 NA NA 0.228953 0.4133 NA 0.442 NA 3.293847 1323 16 1551826 1551826 C G intronic TELO2 NA NA NA intronic ENSG00000100726 NA NA NA NA NA 16p13.3 NA NA NA NA rs72779276 0.13 0.13 0.138 0.0880591 0.2634 NA 0.1657 0.0204 0.0348 0.28 NA 0.19 0.02 0.1801 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39879 NA NA 0.262701 0.053747 NA 0.145 NA 3.293799 1323 1 156708244 156708244 C T intronic MRPL24 NA NA NA intronic ENSG00000143314 NA NA NA NA NA 1q23.1 NA NA NA NA rs28697076 0.19 0.19 0.177 0.218251 0.2336 0.0833 0.2695 0.1838 0.3517 0.24 0.09 0.24 0.19 0.2318 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13338 NA NA 0.241395 0.222878 NA 0.246 NA 3.293205 1323 1 248138013 248138013 C T intronic OR2L13 NA NA NA intronic ENSG00000196071 NA NA NA NA NA 1q44 NA NA NA NA rs12736548 0.45 0.45 0.404 0.448083 0.7068 0.3353 0.6542 0.0477 0.6933 0.7 0.35 0.62 0.06 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447884 NA NA NA NA NA 0.442 NA 3.2932 1323 3 14939364 14939364 G A intronic FGD5 NA NA NA intronic ENSG00000154783 NA NA NA NA NA 3p25.1 NA NA NA NA rs2117774 0.69 0.69 0.69 0.703874 0.7068 0.5942 0.696 0.8419 0.6329 0.7 0.56 0.7 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464049 NA NA NA NA NA 0.696 NA 3.2932 1323 3 14939679 14939679 G A intronic FGD5 NA NA NA intronic ENSG00000154783 NA NA NA NA NA 3p25.1 NA NA NA NA rs2307090 0.67 0.67 0.68 0.680312 0.7068 0.5942 0.6859 0.7579 0.6329 0.7 0.56 0.69 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778488 NA NA NA NA NA 0.667 NA 3.2932 1323 5 118965623 118965623 A G intronic FAM170A NA NA NA intronic ENSG00000164334 NA NA NA NA NA 5q23.1 NA NA NA NA rs2434599 0.66 0.66 0.519 0.662939 0.7068 0.6171 0.6023 0.6135 0.7751 0.7 0.64 0.64 0.63 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319705 NA NA NA NA NA 0.594 NA 3.2932 1323 16 113493 113493 G C intronic RHBDF1 NA NA NA intronic ENSG00000007384 NA NA NA NA NA 16p13.3 NA NA NA NA rs743724 0.67 0.67 0.628 0.672524 0.7068 0.748 0.7435 0.4569 0.8006 0.72 0.72 0.77 0.46 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030215 NA NA NA NA NA 0.674 NA 3.2932 1323 17 7193448 7193448 A G intronic YBX2 NA NA NA intronic ENSG00000006047 NA NA NA NA NA 17p13.1 NA NA NA NA rs222838 0.5 0.5 0.47 0.472843 0.7068 0.3562 0.5331 0.3026 0.5399 0.7 0.36 0.59 0.28 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444315 NA NA NA NA NA 0.478 NA 3.2932 1323 22 18843686 18843686 G T intergenic GGT3P,DGCR6 dist=64212;dist=50050 NA NA ncRNA_intronic ENSG00000161103,ENSG00000215544 NA NA NA NA NA 22q11.21 NA NA NA NA rs2083330 0.74 0.74 0.746 0.746805 0.7068 0.7421 0.6513 0.8048 0.7822 0.76 0.69 0.68 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029708 NA NA NA NA NA NA NA 3.2932 1323 1 152193121 152193121 G T exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.C984A:p.G328G exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C984A:p.G328G NA NA 1q21.3 NA NA NA NA rs6587651 0.61 0.61 0.613 0.549321 0.83 0.3304 0.5576 0.5287 0.5082 0.82 0.36 0.63 0.53 0.7125 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07596 NA NA 0.831047 0.587608 ID=COSM146611;OCCURENCE=1(stomach) 0.725 NA 3.2931196 1323 19 7997676 7997676 G A intronic TIMM44 NA NA NA intronic ENSG00000104980 NA NA NA NA NA 19p13.2 NA NA NA NA rs2279528 0.24 0.24 0.188 0.223642 0.2217 0.4484 0.2493 0.0393 0.2249 0.23 0.42 0.25 0.03 0.2442 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.572368 1.572368 NA 0.241047 0.07626 NA 0.21 NA 3.293053 1323 2 175326258 175326258 G T intronic GPR155 NA NA NA intronic ENSG00000163328 NA NA NA NA NA 2q31.1 NA NA NA NA rs72910819 0.23 0.23 0.222 0.228035 0.2445 0.0149 0.2277 0.4554 0.1237 0.24 0.02 0.24 0.45 0.209 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137757 NA NA 0.253721 0.383114 ID=COSN166339;OCCURENCE=1(endometrium) 0.312 NA 3.292779 1323 6 36943513 36943513 G C intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs2293385 0.21 0.21 0.159 0.236422 0.2217 0.1062 0.2968 0.2231 0.3609 0.23 0.1 0.32 0.25 0.2405 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459151 NA NA 0.245116 0.221289 NA 0.203 NA 3.292684 1323 6 36711406 36711406 G A intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs3213534 0.27 0.27 0.281 0.242212 0.3499 0.1806 0.1844 0.267 0.2025 0.35 0.22 0.22 0.25 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09476 NA NA 0.357637 0.278902 NA 0.239 NA 3.292463 1323 2 71747432 71747432 G T intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs11687223 0.56 0.56 0.55 0.563698 0.7078 0.2073 0.6326 0.7648 0.4622 0.69 0.17 0.63 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538949 NA NA NA NA NA 0.638 NA 3.2922 1323 6 122743502 122743502 T C intronic HSF2 NA NA NA intronic ENSG00000025156 NA NA NA NA NA 6q22.31 NA NA NA NA rs487487 0.71 0.71 0.686 0.713259 0.7078 0.6994 0.7378 0.6536 0.7965 0.72 0.72 0.74 0.65 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105721 NA NA NA NA NA 0.739 NA 3.2922 1323 9 123929710 123929710 A G intronic CNTRL NA NA NA intronic ENSG00000119397 NA NA NA NA NA 9q33.2 NA NA NA NA rs10818513 0.75 0.75 0.723 0.767173 0.7078 0.9643 0.7767 0.5356 0.9315 0.71 0.98 0.79 0.54 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.690959 1.690959 NA NA NA NA 0.688 NA 3.2922 1323 22 50688235 50688235 T C intronic HDAC10 NA NA NA intronic ENSG00000100429 NA NA NA NA NA 22q13.33 NA NA NA NA rs738334 0.82 0.82 0.813 0.871006 0.7078 0.8681 0.83 0.9849 0.9172 0.71 0.86 0.8 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24215 NA NA NA NA NA 0.855 NA 3.2922 1323 6 42851396 42851396 G A intronic RPL7L1 NA NA NA intronic ENSG00000146223 NA NA NA NA NA 6p21.1 NA NA NA NA rs2395939 0.16 0.16 0.16 0.163139 0.2684 0.0228 0.183 0.1369 0.2209 0.26 0.02 0.2 0.14 0.1982 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236005 NA NA 0.241279 0.148661 NA 0.152 NA 3.292121 1323 8 7154917 7154917 A C intergenic LOC349196,FAM66B dist=11037;dist=4216 NA NA ncRNA_exonic ENSG00000233295 NA NA NA NA NA 8p23.1 NA NA NA NA rs62488791 0.28 0.28 0.178 0.242612 0.3857 0.3254 0.2046 0.0703 0.2699 0.37 0.3 0.22 0.16 0.3226 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248905 NA 1 NA NA NA NA NA 3.2917 1323 7 99474729 99474729 T C upstream OR2AE1 NA NA NA intronic ENSG00000146833 NA NA NA NA NA 7q22.1 NA NA NA NA rs2572022 0.56 0.56 0.583 0.589657 0.5417 0.2927 0.4625 0.9349 0.5685 0.56 0.26 0.51 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690459 NA NA NA NA NA 0.623 NA 3.2916333 1323 1 152193291 152193291 G T exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.C814A:p.R272R exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C814A:p.R272R NA NA 1q21.3 NA NA NA NA rs6587652 0.61 0.61 0.586 0.560104 0.83 0.38 0.5576 0.5295 0.5112 0.82 0.37 0.63 0.53 0.7141 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047383 NA NA 0.831047 0.588289 ID=COSM146614;OCCURENCE=1(stomach) 0.725 NA 3.2915196 1323 6 40998344 40998344 G C intronic UNC5CL NA NA NA intronic ENSG00000124602 NA NA NA NA NA 6p21.1 NA NA NA NA rs9369256 0.22 0.22 0.216 0.261781 0.1998 0.2738 0.2594 0.2194 0.3722 0.2 0.26 0.25 0.18 0.2681 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351765 NA NA 0.240581 0.216069 NA 0.174 NA 3.291519 1323 1 152191879 152191879 G A exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.C2226T:p.H742H exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C2226T:p.H742H NA NA 1q21.3 NA NA NA NA rs10788828 0.61 0.61 0.607 0.560104 0.83 0.38 0.5576 0.528 0.5133 0.82 0.37 0.63 0.53 0.7143 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513146 NA NA 0.83093 0.588743 NA 0.71 NA 3.2914366 1323 2 170668106 170668106 G A intronic SSB NA NA NA intronic ENSG00000138382,ENSG00000138385 NA NA NA NA NA 2q31.1 NA NA NA NA rs2246149 0.59 0.59 0.557 0.563498 0.7087 0.4653 0.7248 0.4781 0.5164 0.7 0.48 0.71 0.46 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687535 NA NA NA NA NA 0.63 NA 3.2913 1323 6 160481537 160481537 T C intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs7746102 0.29 0.29 0.275 0.286542 0.2068 0.3383 0.2925 0.3601 0.2117 0.2 0.36 0.29 0.33 0.2695 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335362 NA NA 0.232442 0.342488 NA 0.348 NA 3.291258 1323 1 183099701 183099701 G A intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA Name=17 NA rs2296300 0.53 0.53 0.495 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.576 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076511 NA NA 0.569419 0.374716 NA 0.464 NA 3.290981 1323 2 1426787 1426787 G A intronic TPO NA NA NA intronic ENSG00000115705 NA NA NA NA NA 2p25.3 NA NA NA NA rs2276701 0.22 0.22 0.198 0.230631 0.2435 0.1915 0.3156 0.1762 0.271 0.23 0.16 0.32 0.18 0.2369 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143228 NA NA 0.228953 0.184067 NA 0.283 NA 3.290647 1323 16 57741346 57741346 C T intronic CCDC135 NA NA NA intronic ENSG00000159625 NA NA NA NA NA 16q21 NA NA NA NA rs12933056 0.18 0.18 0.176 0.184305 0.2386 0.1558 0.1297 0.1483 0.2454 0.24 0.15 0.13 0.14 0.2416 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776033 NA NA 0.22923 0.154529 NA 0.116 NA 3.29057 1323 12 121431272 121431272 T A intronic HNF1A NA NA NA intronic ENSG00000135100 NA NA NA NA NA 12q24.31 NA NA NA NA rs2071190 0.26 0.26 0.222 0.252396 0.2356 0.2728 0.3775 0.236 0.182 0.24 0.24 0.33 0.27 0.2354 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16982 NA NA 0.238605 0.249887 NA 0.239 NA 3.290395 1323 2 26110057 26110057 G A intergenic ASXL2,KIF3C dist=8745;dist=39398 NA NA ncRNA_exonic ENSG00000217718 NA NA NA NA NA 2p23.3 NA NA NA NA rs3845681 0.45 0.45 0.428 0.476438 0.7097 0.1389 0.4841 0.3828 0.7055 0.71 0.12 0.5 0.38 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75905 NA NA NA NA NA 0.551 NA 3.2903 1323 2 26110064 26110064 A T intergenic ASXL2,KIF3C dist=8752;dist=39391 NA NA ncRNA_exonic ENSG00000217718 NA NA NA NA NA 2p23.3 NA NA NA NA rs3845682 0.47 0.47 0.456 0.502396 0.7097 0.1389 0.4899 0.4781 0.7055 0.71 0.12 0.51 0.46 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.600858 NA NA NA NA NA 0.565 NA 3.2903 1323 7 107303622 107303622 A T intronic SLC26A4 NA NA NA intronic ENSG00000091137 NA NA NA NA NA 7q22.3 NA NA NA NA rs2248464 0.73 0.73 0.745 0.764577 0.7097 0.7133 0.7349 0.8003 0.8466 0.7 0.7 0.72 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.010768 NA NA NA NA NA 0.754 NA 3.2903 1323 16 78389752 78389752 C T intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs7200865 0.57 0.57 0.578 0.568091 0.7097 0.1815 0.5101 0.8472 0.4847 0.71 0.19 0.54 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45975 NA NA NA NA NA 0.543 NA 3.2903 1323 16 78389789 78389789 T G intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs7206533 0.57 0.57 0.587 0.56869 0.7097 0.1815 0.5115 0.8472 0.4867 0.71 0.19 0.55 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248109 NA NA NA NA NA 0.565 NA 3.2903 1323 1 12837634 12837634 T A exonic PRAMEF12 NA synonymous SNV PRAMEF12:NM_001080830:exon3:c.T1344A:p.I448I exonic ENSG00000116726 NA synonymous SNV ENSG00000116726:ENST00000357726:exon3:c.T1344A:p.I448I NA NA 1p36.21 NA NA NA NA rs848578 0.7 0.7 0.668 0.663339 0.8012 0.7192 0.8055 0.3729 0.7556 0.82 0.73 0.8 0.4 0.7635 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363483 NA NA 0.811744 0.429414 NA 0.601 NA 3.2902226 1323 2 30682630 30682630 T A intronic LCLAT1 NA NA NA intronic ENSG00000172954 NA NA NA NA NA 2p23.1 NA NA NA NA rs829573 0.27 0.27 0.233 0.264377 0.2256 0.3651 0.2608 0.1861 0.3088 0.25 0.34 0.25 0.22 0.2509 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.359583 NA NA 0.233372 0.187472 NA 0.29 NA 3.290128 1323 14 20841313 20841313 G A intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs1713448 0.36 0.36 0.383 0.379393 0.2247 0.3056 0.3804 0.6596 0.2352 0.23 0.3 0.33 0.66 0.2758 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00495 NA NA 0.209419 0.559237 NA 0.355 NA 3.290081 1323 10 100167322 100167322 C T intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs11189595 0.24 0.24 0.222 0.252396 0.2018 0.3353 0.2752 0.1082 0.3978 0.2 0.37 0.26 0.12 0.2711 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192982 NA NA 0.237674 0.139355 NA 0.145 NA 3.289426 1323 12 21807687 21807687 C G intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA NA NA NA rs7953579 0.75 0.75 0.742 0.716653 0.7107 0.876 0.7983 0.6097 0.6452 0.7 0.87 0.78 0.64 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704333 NA NA NA NA NA 0.681 NA 3.2893 1323 5 180048056 180048056 C T intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs2242214 0.23 0.23 0.23 0.243211 0.2217 0.255 0.1585 0.2648 0.2843 0.21 0.27 0.2 0.23 0.2422 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.382802 NA NA 0.247031 0.251475 NA 0.355 NA 3.289069 1323 21 10862599 10862599 C T intergenic TEKT4P2,TPTE dist=894006;dist=44144 NA NA upstream ENSG00000169861 NA NA NA Score=278;Name=lod=18 NA 21p11.2 NA NA NA NA rs3883945 NA NA 0.523 0.549521 0.6252 0.5546 0.5461 0.4818 0.5603 NA NA NA NA 0.5859 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687115 NA NA NA NA NA 0.558 NA 3.2889 1323 17 38130492 38130492 T C intronic GSDMA NA NA NA intronic ENSG00000167914 NA NA NA NA NA 17q21.1 NA NA NA NA rs62066853 0.24 0.24 0.178 0.202276 0.2256 0.4276 0.2565 0.025 0.1472 0.23 0.41 0.25 0.03 0.2531 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170126 NA NA 0.232872 0.063774 NA 0.21 NA 3.288428 1323 6 32441100 32441100 A C intergenic HLA-DRA,HLA-DRB5 dist=28274;dist=44054 NA NA ncRNA_intronic ENSG00000196301 NA NA NA NA NA 6p21.32 NA NA NA NA rs9269081 0.68 0.68 0.663 0.676518 0.7117 0.631 0.8026 0.646 0.6391 0.72 0.62 0.79 0.62 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662057 NA NA NA NA NA 0.696 NA 3.2883 1323 13 47466781 47466781 T G intronic HTR2A NA NA NA intronic ENSG00000102468 NA NA NA NA NA 13q14.2 NA NA NA NA rs2296973 0.71 0.71 0.698 0.715655 0.7117 0.6726 0.6744 0.8154 0.6585 0.72 0.59 0.71 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802908 NA NA NA NA NA 0.761 NA 3.2883 1323 14 101409763 101409763 A G intergenic SNORD113-7,SNORD113-9 dist=2225;dist=2223 NA NA ncRNA_intronic ENSG00000225746 NA NA NA NA NA 14q32.31 NA NA NA NA rs35829821 0.14 0.14 0.128 0.110823 0.2594 0.0645 0.1412 0.0121 0.1176 0.25 0.07 0.17 0.01 0.1836 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.999131 NA NA 0.26896 0.060502 NA 0.232 NA 3.28804 1323 7 138601473 138601473 C T intronic KIAA1549 NA NA NA intronic ENSG00000122778 NA NA NA NA NA 7q34 NA NA NA NA rs1958658 0.21 0.21 0.211 0.201278 0.2545 0.0665 0.1542 0.348 0.1207 0.25 0.08 0.15 0.36 0.2281 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823542 NA NA 0.229436 0.322084 NA 0.239 NA 3.287964 1323 11 280817 280817 T C exonic NLRP6 NA synonymous SNV NLRP6:NM_001276700:exon4:c.T1083C:p.Y361Y,NLRP6:NM_138329:exon4:c.T1083C:p.Y361Y exonic ENSG00000174885 NA synonymous SNV ENSG00000174885:ENST00000312165:exon4:c.T1083C:p.Y361Y,ENSG00000174885:ENST00000534750:exon4:c.T1083C:p.Y361Y NA NA 11p15.5 NA NA NA NA rs7482279 0.65 0.65 0.258 0.700879 0.8807 0.2877 0.8228 0.8169 0.6984 0.81 0.25 0.81 0.76 0.7934 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836182 NA NA 0.704651 0.617567 NA NA NA 3.2879156 1323 1 112020224 112020224 C A intronic C1orf162 NA NA NA intronic ENSG00000143110 NA NA NA NA NA 1p13.2 NA NA NA NA rs115634476 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7121 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568726 NA NA NA NA NA NA NA 3.2879 1323 6 38718402 38718402 G A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs56148146 0.12 0.12 0.112 0.104034 0.2435 0.004 0.1599 0.0212 0.136 0.25 0.0035 0.17 0.02 0.1974 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590257 NA NA 0.271279 0.064231 NA 0.13 NA 3.287821 1323 5 161292685 161292685 C T intronic GABRA1 NA NA NA intronic ENSG00000022355 NA NA NA NA NA 5q34 NA NA NA NA rs41304896 0.2 0.2 0.188 0.173722 0.2575 0.2371 0.1888 0.0272 0.2096 0.27 0.26 0.23 0.02 0.2212 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539396 NA NA 0.233837 0.054471 NA 0.152 NA 3.287463 1323 19 50941000 50941000 A G intronic MYBPC2 NA NA NA intronic ENSG00000086967 NA NA NA NA NA 19q13.33 NA NA NA NA rs73054411 0.19 0.19 0.175 0.195887 0.2356 0.1012 0.2161 0.1717 0.271 0.25 0.09 0.19 0.2 0.2443 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306649 NA NA 0.232674 0.160886 NA 0.181 NA 3.287426 1323 14 73961841 73961841 T C intronic HEATR4 NA NA NA intronic ENSG00000187105 NA NA NA NA NA 14q24.3 NA NA NA NA rs1019056 0.81 0.81 0.804 0.816094 0.7127 0.8353 0.8112 0.9455 0.7311 0.71 0.84 0.79 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264856 NA NA NA NA NA 0.775 NA 3.2873 1323 14 107057859 107057859 G A intergenic LINC00221,NONE dist=106330;dist=NONE NA NA upstream ENSG00000253689 NA NA NA NA NA 14q32.33 NA NA NA NA rs2009697 0.3 0.3 0.282 0.366414 0.2127 0.503 0.3401 0.236 0.5787 0.21 0.49 0.29 0.24 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.718502 NA NA NA NA NA 0.232 NA 3.2873 1323 18 11644325 11644325 G A intergenic PIEZO2,GNAL dist=495564;dist=44689 NA NA upstream ENSG00000267773 NA NA NA NA NA 18p11.21 NA NA NA NA rs111598097 0.1 0.1 0.089 0.0846645 0.2127 0.005 0.1124 0.0129 0.1125 0.21 NA 0.12 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531802 NA NA NA NA NA 0.159 NA 3.2873 1323 19 36558113 36558113 T C intronic WDR62 NA NA NA intronic ENSG00000075702 NA NA NA NA NA 19q13.12 NA NA NA NA rs12608517 0.78 0.78 0.78 0.782149 0.7127 0.8274 0.7925 0.829 0.7362 0.72 0.82 0.76 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570897 NA NA NA NA NA 0.681 NA 3.2873 1323 15 75044238 75044238 G A intronic CYP1A2 NA NA NA intronic ENSG00000140505 NA NA NA NA Name=Caffeine consumption 15q24.1 NA NA NA NA rs2472304 0.32 0.32 0.285 0.238019 0.5994 0.1637 0.3271 0.0333 0.1564 0.59 0.16 0.38 0.04 0.4586 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150686 NA NA 0.654795 0.133591 NA 0.399 NA 3.287205 1323 6 152542548 152542548 A G intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9383976 0.33 0.33 0.311 0.337859 0.2078 0.5367 0.2493 0.2995 0.3814 0.23 0.55 0.25 0.28 0.2805 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336821 NA NA 0.224767 0.320472 NA 0.333 NA 3.286933 1323 13 53009048 53009048 C T intronic VPS36 NA NA NA intronic ENSG00000136100 NA NA NA NA NA 13q14.3 NA NA Name=17 NA rs11148252 0.51 0.51 0.485 0.458267 0.6044 0.629 0.572 0.1604 0.454 0.59 0.62 0.57 0.19 0.5388 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085755 NA NA 0.569884 0.219927 NA 0.413 NA 3.286916 1323 4 177082032 177082032 A G intronic WDR17 NA NA NA intronic ENSG00000150627 NA NA NA NA NA 4q34.2 NA NA NA NA rs10520338 0.16 0.16 0.152 0.16234 0.2545 0.1677 0.1268 0.0333 0.2618 0.25 0.15 0.16 0.04 0.214 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152738 NA NA 0.244884 0.0665 NA 0.109 NA 3.286616 1323 20 2542669 2542669 C T intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs7270277 0.34 0.34 0.318 NA NA NA NA NA NA 0.32 0.51 0.33 0.18 0.3499 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182183 NA NA 0.363488 0.200182 NA 0.246 NA 3.286612 1323 16 23563501 23563501 C T exonic EARS2 NA synonymous SNV EARS2:NM_001083614:exon2:c.G264A:p.A88A exonic ENSG00000103356 NA synonymous SNV ENSG00000103356:ENST00000449606:exon2:c.G264A:p.A88A,ENSG00000103356:ENST00000563232:exon2:c.G264A:p.A88A,ENSG00000103356:ENST00000563459:exon2:c.G264A:p.A88A,ENSG00000103356:ENST00000564501:exon2:c.G264A:p.A88A NA NA 16p12.2 NA NA NA NA rs7187920 0.7 0.7 0.7 0.67472 0.8131 0.6974 0.7233 0.5136 0.6922 0.81 0.67 0.75 0.53 0.7561 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284951 1.284951 NA 0.811127 0.578582 NA 0.739 NA 3.2863396 1323 16 1272472 1272472 C T intronic TPSG1 NA NA NA intronic ENSG00000116176 NA NA NA NA NA 16p13.3 NA NA NA NA rs7198064 0.83 0.83 0.831 0.807308 0.7137 0.9673 0.7795 0.8767 0.6646 0.7 0.98 0.75 0.9 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545333 NA NA NA NA NA 0.884 NA 3.2863 1323 19 18306751 18306751 G A intronic MPV17L2 NA NA NA intronic ENSG00000254858 NA NA NA NA NA 19p13.11 NA NA NA NA rs62120383 0.26 0.26 0.239 0.226238 0.3738 0.0893 0.2579 0.2685 0.136 0.39 0.09 0.28 0.27 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233331 NA NA 0.340352 0.274566 ID=COSN165762;OCCURENCE=1(NS) 0.217 NA 3.285848 1323 3 9798140 9798140 C G intronic OGG1 NA NA NA intronic ENSG00000114026 NA NA NA NA NA 3p25.3 NA NA NA NA rs2072668 0.33 0.33 0.315 0.335463 0.2028 0.5486 0.3026 0.2761 0.3558 0.2 0.54 0.31 0.28 0.281 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509691 NA NA 0.230698 0.269178 NA 0.283 NA 3.285502 1323 6 44108150 44108150 T C intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs7738970 0.26 0.26 0.227 0.251398 0.339 0.0437 0.3372 0.3192 0.2229 0.34 0.05 0.36 0.3 0.3755 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102741 NA NA NA NA NA 0.377 NA 3.2855 1323 13 39542531 39542531 A C intronic STOML3 NA NA NA intronic ENSG00000133115 NA NA NA NA NA 13q13.3 NA NA NA NA rs7323023 0.19 0.19 0.158 0.21226 0.2515 0.0794 0.232 0.23 0.271 0.23 0.07 0.25 0.21 0.2197 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447696 NA NA 0.243372 0.222878 NA 0.217 NA 3.285428 1323 2 231157512 231157512 A G intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs6710297 0.14 0.14 0.129 0.121805 0.2485 0.003 0.1196 0.0749 0.1789 0.26 0.0017 0.14 0.1 0.2025 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1026 NA NA 0.263654 0.10005 NA 0.109 NA 3.285346 1323 2 71891236 71891236 C T intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs2303598 0.62 0.62 0.588 0.609824 0.7147 0.6587 0.6225 0.4788 0.6196 0.71 0.64 0.67 0.46 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516912 NA NA NA NA NA 0.565 NA 3.2853 1323 7 53255471 53255471 A G intergenic POM121L12,FLJ45974 dist=150853;dist=467731 NA NA ncRNA_exonic ENSG00000227344 NA NA NA NA NA 7p12.1 NA NA NA NA rs6943510 0.85 0.85 0.846 0.868211 0.7147 0.9415 0.8228 0.9773 0.8354 0.71 0.95 0.83 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64198 NA NA NA NA NA 0.906 NA 3.2853 1323 14 102897958 102897958 C T intronic TECPR2 NA NA NA intronic ENSG00000196663 NA NA NA NA NA 14q32.31 NA NA NA NA rs1190542 0.6 0.6 0.63 0.576478 0.7147 0.5099 0.4755 0.5719 0.5808 0.73 0.49 0.5 0.58 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61188 NA NA NA NA NA 0.703 NA 3.2853 1323 19 57835297 57835297 G T intronic ZNF543 NA NA NA intronic ENSG00000178229 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801217 0.68 0.68 0.665 0.664537 0.7147 0.5149 0.7061 0.7837 0.5767 0.73 0.55 0.71 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77532 NA NA NA NA NA 0.638 NA 3.2853 1324 6 32191620 32191620 C T intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA NA 6p21.32 NA NA NA NA rs3134930 0.25 0.25 0.237 0.258187 0.2167 0.2748 0.2291 0.2829 0.271 0.22 0.3 0.19 0.27 0.2534 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163028 NA NA 0.245109 0.243878 NA 0.29 NA 3.284791 1324 10 15658596 15658596 G A intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs7099530 0.23 0.23 0.186 0.197085 0.2545 0.1806 0.3646 0.1445 0.1074 0.26 0.2 0.34 0.13 0.236 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036744 NA NA 0.224767 0.166591 NA 0.174 NA 3.284733 1324 8 2056569 2056569 C T intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs1978898 0.16 0.16 0.141 0.145367 0.2396 0.1587 0.1614 0.0166 0.1973 0.25 0.17 0.16 0.02 0.2236 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482331 NA NA 0.252442 0.047889 NA 0.072 NA 3.284358 1324 20 9543688 9543688 T G intronic PAK7 NA NA NA intronic ENSG00000101349 NA NA NA NA NA 20p12.2 NA NA NA NA rs2297347 0.37 0.37 0.401 0.39357 0.2286 0.245 0.2219 0.8389 0.2362 0.23 0.23 0.24 0.83 0.2623 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681033 NA NA 0.224767 0.739219 NA 0.435 NA 3.284333 1324 11 18487425 18487425 A G intronic LDHAL6A NA NA NA intronic ENSG00000166800 NA NA NA NA NA 11p15.1 NA NA NA NA rs2658563 0.74 0.74 0.743 0.756589 0.7157 0.8681 0.745 0.6513 0.8344 0.72 0.88 0.72 0.65 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473477 NA NA NA NA NA 0.812 NA 3.2843 1324 14 73732302 73732302 C G intronic PAPLN NA NA NA intronic ENSG00000100767 NA NA NA NA NA 14q24.2 NA NA NA NA rs177383 0.83 0.83 0.848 0.841853 0.7157 0.8452 0.8689 0.9871 0.7526 0.72 0.84 0.86 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925783 NA NA NA NA NA 0.775 NA 3.2843 1324 15 90634941 90634941 A G intronic IDH2 NA NA NA intronic ENSG00000182054 NA NA NA NA NA 15q26.1 NA NA NA NA rs10852126 0.66 0.66 0.68 0.650759 0.7157 0.3879 0.5634 0.8828 0.6033 0.74 0.39 0.6 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662019 NA NA NA NA NA 0.761 NA 3.2843 1324 17 79077980 79077980 A C intronic BAIAP2 NA NA NA intronic ENSG00000175866 NA NA NA NA NA 17q25.3 NA NA NA NA rs57792378 0.79 0.79 0.781 0.806709 0.7157 0.8651 0.8458 0.7958 0.8272 0.71 0.85 0.83 0.8 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065607 NA NA NA NA NA 0.783 NA 3.2843 1324 5 179016664 179016664 A T intronic RUFY1 NA NA NA intronic ENSG00000176783 NA NA NA NA NA 5q35.3 NA NA NA NA rs6895677 0.32 0.32 0.296 0.329473 0.1998 0.6448 0.3732 0.1172 0.3937 0.19 0.66 0.36 0.09 0.2947 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251441 NA NA 0.221395 0.138675 NA 0.239 NA 3.284105 1324 15 98514489 98514489 A G UTR3 ARRDC4 NM_183376:c.*72A>G NA NA UTR3 ENSG00000140450 ENST00000538249:c.*72A>G,ENST00000268042:c.*72A>G NA NA NA NA 15q26.3 NA NA NA NA rs3803385 0.49 0.49 0.484 0.495807 0.5119 0.5486 0.5303 0.3026 0.6616 0.52 0.56 0.51 0.34 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.095625 2.095625 NA 0.537445 0.341837 NA 0.529 NA 3.2839884 1324 10 13099840 13099840 C T intergenic CCDC3,OPTN dist=56136;dist=42242 NA NA intronic ENSG00000151468 NA NA NA NA NA 10p13 NA NA NA NA rs55749905 0.4 0.4 0.41 0.434505 0.3827 0.5238 0.4308 0.3986 0.4468 0.37 0.49 0.37 0.38 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636525 NA NA NA NA NA 0.348 NA 3.2839667 1324 7 44555573 44555573 T G intronic NPC1L1 NA NA NA intronic ENSG00000015520 NA NA NA NA NA 7p13 NA NA NA NA rs217428 0.18 0.18 0.163 0.170527 0.2376 0.005 0.1643 0.2837 0.1237 0.22 0.01 0.19 0.3 0.2227 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43815 NA NA 0.255814 0.288924 NA 0.174 NA 3.283886 1324 8 15095085 15095085 C G intronic SGCZ NA NA NA intronic ENSG00000185053 NA NA NA NA NA 8p22 NA Name=ZNF263 NA NA rs4831331 0.49 0.49 0.462 0.483626 0.6093 0.2907 0.4366 0.6452 0.3681 0.6 0.27 0.44 0.59 0.5153 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.538928 NA NA 0.591758 0.616682 NA 0.464 NA 3.283642 1324 14 74999108 74999108 C T intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs862025 0.35 0.35 0.337 0.360024 0.2217 0.3542 0.3646 0.5371 0.2658 0.25 0.4 0.29 0.5 0.2717 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733525 NA NA 0.223256 0.475942 NA 0.333 NA 3.283344 1324 8 48033959 48033959 A C intergenic LINC00293,LOC100287846 dist=266552;dist=66971 NA NA ncRNA_exonic ENSG00000248347 NA NA NA NA NA 8q11.1 NA NA NA NA rs11136110 0.69 0.69 0.649 0.649361 0.7167 0.8194 0.8372 0.4531 0.5368 0.71 0.8 0.83 0.45 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150852 NA NA NA NA NA 0.638 NA 3.2833 1324 13 19700753 19700753 A G intergenic LINC00442,RNU6-52P dist=113979;dist=16369 NA NA ncRNA_exonic ENSG00000224778 NA NA NA NA NA 13q12.11 NA NA NA NA rs7337122 0.62 0.62 0.588 0.602037 0.7167 0.4573 0.6729 0.5825 0.6094 0.72 0.47 0.69 0.61 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946306 NA NA NA NA NA 0.616 NA 3.2833 1324 13 19700783 19700783 A G intergenic LINC00442,RNU6-52P dist=114009;dist=16339 NA NA ncRNA_intronic ENSG00000224778 NA NA NA NA NA 13q12.11 NA NA NA NA rs7337141 0.62 0.62 0.603 0.603035 0.7167 0.4573 0.6729 0.5825 0.6145 0.72 0.47 0.69 0.61 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.984188 NA NA NA NA NA 0.609 NA 3.2833 1324 13 19700978 19700978 A G intergenic LINC00442,RNU6-52P dist=114204;dist=16144 NA NA ncRNA_intronic ENSG00000224778 NA NA NA NA NA 13q12.11 NA NA NA NA rs9511728 0.62 0.62 0.598 0.601438 0.7167 0.4573 0.6729 0.5802 0.6094 0.72 0.47 0.69 0.6 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167584 NA NA NA NA NA 0.601 NA 3.2833 1324 13 19701297 19701297 T G intergenic LINC00442,RNU6-52P dist=114523;dist=15825 NA NA ncRNA_intronic ENSG00000224778 NA NA NA NA NA 13q12.11 NA NA NA NA rs9507489 0.62 0.62 0.603 0.602037 0.7167 0.4573 0.6729 0.5825 0.6094 0.72 0.47 0.69 0.61 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776614 NA NA NA NA NA 0.616 NA 3.2833 1324 15 34060740 34060740 C T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2278317 0.72 0.72 0.69 0.684105 0.7167 0.7758 0.804 0.5234 0.6881 0.73 0.8 0.8 0.55 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.304782 1.304782 NA NA NA NA 0.616 NA 3.2833 1324 19 21588165 21588165 G A intronic ZNF493 NA NA NA intronic ENSG00000196268,ENSG00000269237 NA NA NA NA NA 19p12 NA NA NA NA rs2650847 0.72 0.72 0.725 0.709465 0.7167 0.6577 0.6585 0.7579 0.726 0.7 0.7 0.7 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702371 NA NA NA NA NA 0.63 NA 3.2833 1324 19 47137972 47137972 G A upstream GNG8 NA NA NA upstream ENSG00000167414 NA NA NA NA NA 19q13.32 NA NA NA NA rs12460911 0.09 0.09 0.084 0.101637 0.1352 NA 0.0764 0.1218 0.1626 0.13 NA 0.09 0.15 0.129 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840493 NA NA 0.119879 0.117393 NA 0.087 NA 3.2825876 1324 1 76333163 76333163 T G intronic MSH4 NA NA NA intronic ENSG00000057468 NA NA NA NA NA 1p31.1 NA NA NA NA rs5745433 0.17 0.17 0.16 0.165535 0.2604 0.0169 0.2161 0.1536 0.2014 0.24 0.01 0.25 0.18 0.2031 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332312 NA NA 0.254133 0.172876 NA 0.232 NA 3.282367 1324 19 43922300 43922300 G A intronic TEX101 NA NA NA intronic ENSG00000131126 NA NA NA NA NA 19q13.31 NA NA NA NA rs2278834 0.28 0.28 0.258 0.288139 0.2346 0.6091 0.2824 0.034 0.3599 0.23 0.56 0.25 0.03 0.2567 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895988 NA NA 0.226395 0.061734 NA 0.196 NA 3.282305 1324 2 44569474 44569474 G A intronic PREPL NA NA NA intronic ENSG00000138078 NA NA NA NA NA 2p21 NA NA NA NA rs2304769 0.64 0.64 0.662 0.664337 0.7177 0.3353 0.647 0.7814 0.8027 0.71 0.36 0.67 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475632 NA NA NA NA NA 0.725 NA 3.2823 1324 3 23996371 23996371 T G intronic NR1D2 NA NA NA intronic ENSG00000174738 NA NA NA NA NA 3p24.2 NA NA NA NA rs4858095 0.69 0.69 0.659 0.720248 0.7177 0.5298 0.8242 0.7277 0.8354 0.71 0.55 0.8 0.75 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498842 NA NA NA NA NA 0.681 NA 3.2823 1324 3 172321159 172321159 C T intergenic TNFSF10,NCEH1 dist=79862;dist=27276 NA NA downstream ENSG00000224426 NA NA NA NA NA 3q26.31 NA NA NA NA rs6779133 0.16 0.16 0.143 0.140176 0.2177 0.1528 0.1888 0.0325 0.1585 0.21 0.16 0.23 0.03 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.965851 NA NA NA NA NA 0.21 NA 3.2823 1324 9 13987876 13987876 C G intergenic LINC00583,NFIB dist=42270;dist=93966 NA NA ncRNA_exonic ENSG00000229268 NA NA NA NA NA 9p23 NA NA NA NA rs7875700 0.59 0.59 0.589 0.605232 0.7177 0.2976 0.6427 0.6884 0.6677 0.71 0.3 0.67 0.7 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404273 NA NA NA NA NA 0.616 NA 3.2823 1324 11 397732 397732 T G intronic PKP3 NA NA NA intronic ENSG00000184363 NA NA NA NA NA 11p15.5 NA NA NA NA rs9795299 0.85 0.85 0.84 0.896965 0.7177 0.998 0.7579 0.9803 0.9632 0.71 1 0.74 0.97 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045913 NA NA NA NA NA 0.761 NA 3.2823 1324 19 8999675 8999675 A C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs11085766 0.63 0.63 0.565 0.598442 0.7177 0.6062 0.7219 0.3812 0.6738 0.68 0.67 0.71 0.42 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215011 NA NA NA NA NA 0.551 NA 3.2823 1324 19 9000326 9000326 G C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs35743385 0.63 0.63 0.586 0.598642 0.7177 0.6062 0.7219 0.3812 0.6748 0.7 0.67 0.71 0.43 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378907 NA NA NA NA NA 0.551 NA 3.2823 1324 19 9003749 9003749 G T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs11085779 0.63 0.63 0.607 0.602236 0.7177 0.6071 0.7248 0.3941 0.6728 0.7 0.67 0.72 0.44 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848856 NA NA NA NA NA 0.551 NA 3.2823 1324 19 327998 327998 G T intronic MIER2 NA NA NA intronic ENSG00000105556 NA NA NA NA NA 19p13.3 NA NA NA NA rs2305113 0.34 0.34 0.319 0.400759 0.2008 0.6558 0.2839 0.3351 0.5153 0.19 0.6 0.26 0.3 0.2946 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214309 NA NA 0.222442 0.334317 NA 0.304 NA 3.282158 1324 5 168179922 168179922 T C intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs10039601 0.28 0.28 0.275 0.294329 0.2435 0.2302 0.1931 0.4644 0.2546 0.24 0.27 0.2 0.43 0.2523 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00729 NA NA 0.222093 0.427145 NA 0.29 NA 3.282107 1324 17 76187160 76187160 C T intronic AFMID NA NA NA intronic ENSG00000183077 NA NA NA NA NA 17q25.3 NA NA NA NA rs17640750 0.16 0.16 0.149 0.145966 0.2455 0.0446 0.2205 0.0703 0.1973 0.26 0.04 0.25 0.08 0.2262 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213037 NA NA 0.246512 0.101226 NA 0.152 NA 3.281788 1324 4 189064952 189064952 C G intronic TRIML1 NA NA NA intronic ENSG00000184108 NA NA NA NA NA 4q35.2 NA Name=NRSF NA NA rs28463290 0.44 0.44 0.403 0.453874 0.5616 0.3591 0.5461 0.27 0.6237 0.55 0.37 0.55 0.27 0.5622 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643711 NA NA 0.594651 0.312755 ID=COSN167391;OCCURENCE=1(large_intestine) 0.486 NA 3.281549 1324 12 96106943 96106943 T C intronic NTN4 NA NA NA intronic ENSG00000074527 NA NA NA NA NA 12q22 NA NA NA NA rs4129599 0.4 0.4 0.407 0.384984 0.2425 0.5367 0.2017 0.618 0.1902 0.24 0.55 0.23 0.58 0.2569 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.335342 NA NA 0.21907 0.537449 NA 0.399 NA 3.28153 1324 7 98645517 98645517 G A intronic SMURF1 NA NA NA ncRNA_exonic ENSG00000242687 NA NA NA NA NA 7q22.1 NA NA NA NA rs219824 0.46 0.46 0.486 0.498203 0.335 0.4157 0.304 0.7814 0.5061 0.35 0.39 0.34 0.78 0.3842 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.563944 1.563944 NA 0.332791 0.725828 ID=COSN168153;OCCURENCE=1(large_intestine) 0.529 NA 3.2813423 1324 7 37933983 37933983 C G intronic NME8 NA NA NA intronic ENSG00000086288,ENSG00000086289 NA NA NA NA NA 7p14.1 NA NA NA NA rs10260487 0.65 0.65 0.64 0.616414 0.7187 0.6776 0.5432 0.5219 0.6278 0.71 0.71 0.6 0.53 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308616 NA NA NA NA NA 0.739 NA 3.2813 1324 16 19505751 19505751 G A intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA NA NA rs2856608 0.55 0.55 0.514 0.567891 0.7187 0.4623 0.5288 0.407 0.7669 0.74 0.43 0.55 0.39 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493308 NA NA NA NA NA 0.377 NA 3.2813 1324 19 14865704 14865704 C T intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs2058107 0.75 0.75 0.756 0.784744 0.7187 0.8214 0.6455 0.8253 0.8589 0.73 0.78 0.64 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879398 NA NA NA NA NA 0.703 NA 3.2813 1324 19 14866974 14866974 T C intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs2253472 0.76 0.76 0.77 0.807508 0.7187 0.8333 0.6571 0.8926 0.864 0.73 0.78 0.65 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293064 NA NA NA NA NA 0.739 NA 3.2813 1324 19 57953121 57953121 C T intronic ZNF749 NA NA NA intronic ENSG00000186230,ENSG00000268163 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801483 0.76 0.76 0.795 0.758786 0.7187 0.7242 0.745 0.8775 0.6851 0.74 0.74 0.72 0.85 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536861 NA NA NA NA NA 0.775 NA 3.2813 1324 13 52511606 52511606 G A intronic ATP7B NA NA NA intronic ENSG00000123191 NA NA NA NA NA 13q14.3 NA NA NA NA rs2282057 0.49 0.49 0.498 0.501797 0.5954 0.4018 0.4755 0.4955 0.5358 0.58 0.39 0.51 0.45 0.5374 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05811 NA NA 0.586337 0.475604 NA 0.442 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029376.1|RCV000078054.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 3.280863 1324 13 113819009 113819009 T A intronic PROZ NA NA NA intronic ENSG00000126231 NA NA NA NA NA 13q34 NA NA NA NA rs494860 0.22 0.22 0.193 0.263179 0.2256 0.3313 0.2507 0.0605 0.5143 0.23 0.32 0.23 0.05 0.2653 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038637 NA NA 0.228299 0.080118 NA 0.196 NA 3.280801 1324 8 113301548 113301548 A G intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs1861755 0.25 0.25 0.215 0.237819 0.2455 0.3462 0.3127 0.0537 0.3139 0.24 0.38 0.32 0.06 0.2483 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08586 NA NA 0.225401 0.077167 NA 0.268 NA 3.280799 1324 19 2041032 2041032 T C intronic MKNK2 NA NA NA intronic ENSG00000099875 NA NA NA Score=559;Name=lod=250 NA 19p13.3 NA NA NA NA rs2287003 0.68 0.68 0.698 0.717652 0.5577 0.6806 0.6657 0.9342 0.6646 0.53 0.69 0.69 0.92 0.6062 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.528944 NA NA 0.555349 0.861099 NA 0.63 NA 3.280751 1324 17 30791503 30791503 C T intronic PSMD11 NA NA NA intronic ENSG00000108671 NA NA NA NA NA 17q11.2 NA NA Name=6 NA rs2302276 0.54 0.54 0.475 0.554113 0.6322 0.1062 0.5562 0.8797 0.4939 0.65 0.09 0.57 0.86 0.558 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638303 NA NA 0.52907 0.797322 ID=COSN165387;OCCURENCE=1(NS) 0.63 NA 3.28073 1324 18 61558878 61558878 C T intronic SERPINB2 NA NA NA intronic ENSG00000197632 NA NA NA NA NA 18q21.33 NA NA NA NA rs6093 0.31 0.31 0.307 0.327077 0.2296 0.499 0.3516 0.2859 0.2883 0.22 0.46 0.32 0.28 0.2725 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015381 NA NA 0.217326 0.275306 NA 0.232 NA 3.280574 1324 19 53619465 53619465 C T intronic ZNF415 NA NA NA UTR3 ENSG00000170954 ENST00000600574:c.*9G>A NA NA NA NA 19q13.42 NA NA NA NA rs3745181 0.45 0.45 0.393 0.442492 0.4254 0.626 0.5937 0.2057 0.4836 0.44 0.62 0.57 0.2 0.4607 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833781 NA NA NA NA NA 0.406 NA 3.2805667 1324 2 37297329 37297329 C G intronic HEATR5B NA NA NA intronic ENSG00000008869 NA NA NA NA NA 2p22.2 NA NA NA NA rs4327218 0.22 0.22 0.178 0.239217 0.2306 0.245 0.3631 0.0915 0.3538 0.24 0.23 0.35 0.08 0.2599 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127127 NA NA 0.228953 0.111666 NA 0.326 NA 3.280547 1324 16 19508573 19508573 A G intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA NA NA rs2187659 0.55 0.55 0.52 0.565495 0.7197 0.4613 0.5288 0.3979 0.7669 0.74 0.43 0.55 0.38 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422572 NA NA NA NA NA 0.37 NA 3.2803 1324 16 19508583 19508583 C G intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA NA NA rs2187660 0.55 0.55 0.508 0.565695 0.7197 0.4623 0.5288 0.3979 0.7669 0.74 0.43 0.55 0.38 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284172 NA NA NA NA NA 0.37 NA 3.2803 1324 12 69141678 69141678 T A intronic SLC35E3 NA NA NA intronic ENSG00000175782 NA NA NA NA NA 12q15 NA NA NA NA rs57821268 0.19 0.19 0.2 0.231629 0.2247 0.2867 0.1383 0.0522 0.4908 0.22 0.31 0.14 0.07 0.2588 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.580232 4.580232 NA 0.236616 0.075055 NA 0.232 NA 3.279884 1324 3 125466801 125466801 T C intergenic OSBPL11,MIR548I1 dist=152420;dist=42446 NA NA ncRNA_exonic ENSG00000179170 NA NA NA NA NA 3q21.2 NA NA NA NA rs9833444 0.7 0.7 0.658 0.720248 0.7207 0.8304 0.6772 0.6014 0.7975 0.73 0.84 0.65 0.55 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41824 NA NA NA NA NA 0.051 NA 3.2793 1324 7 138419085 138419085 A G intronic ATP6V0A4 NA NA NA intronic ENSG00000105929 NA NA NA NA NA 7q34 NA NA NA NA rs1037692 0.8 0.8 0.799 0.790335 0.7207 0.9454 0.8055 0.7784 0.7076 0.73 0.95 0.76 0.77 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161652 NA NA NA NA NA 0.783 NA 3.2793 1324 9 19619509 19619509 C T intronic SLC24A2 NA NA NA intronic ENSG00000155886 NA NA NA NA NA 9p22.1 NA NA NA NA rs1885220 0.77 0.77 0.766 0.761182 0.7207 0.8562 0.8055 0.6967 0.7607 0.73 0.88 0.78 0.7 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333194 NA NA NA NA NA 0.717 NA 3.2793 1324 10 3147508 3147508 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs4881082 NA NA 0.6 0.584864 0.7207 0.4722 0.6383 0.5053 0.6309 NA NA NA NA NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43904 NA NA NA NA NA 0.71 NA 3.2793 1324 19 39334811 39334811 T A intronic HNRNPL NA NA NA intronic ENSG00000104824 NA NA NA NA NA 19q13.2 NA NA NA NA rs2278011 0.55 0.55 0.547 0.573882 0.7207 0.377 0.549 0.4826 0.7669 0.72 0.41 0.55 0.43 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223319 NA NA NA NA NA 0.71 NA 3.2793 1324 14 21387994 21387994 A G ncRNA_exonic ECRP NA NA NA ncRNA_exonic ENSG00000136315 NA NA NA NA NA 14q11.2 NA NA NA NA rs10459477 0.58 0.58 0.529 0.556909 0.7058 0.5099 0.7882 0.2602 0.6892 0.7 0.56 0.76 0.28 0.6816 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6012 NA 0.87 NA NA NA 0.58 NA 3.2792666 1324 22 50719976 50719976 C T intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs111925803 0.14 0.14 0.126 0.107029 0.2614 0.0595 0.1527 0.0121 0.093 0.26 0.07 0.17 0.02 0.2022 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.993785 NA NA 0.257239 0.053202 NA 0.109 NA 3.279161 1324 16 24902434 24902434 T C intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs274082 0.22 0.22 0.204 0.240615 0.2247 0.3383 0.2507 0.0628 0.3896 0.23 0.32 0.24 0.07 0.2551 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379586 NA NA 0.241163 0.081475 NA 0.203 NA 3.279037 1324 14 21388302 21388302 G A ncRNA_exonic ECRP NA NA NA ncRNA_exonic ENSG00000136315 NA NA NA NA NA 14q11.2 NA NA NA NA rs3748341 0.58 0.58 0.518 0.564097 0.7058 0.5119 0.7839 0.2897 0.6871 0.7 0.56 0.76 0.28 0.682 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9225 NA NA NA NA NA 0.58 NA 3.2788666 1324 12 42717811 42717811 A T intronic ZCRB1 NA NA NA intronic ENSG00000134283,ENSG00000139168 NA NA NA NA NA 12q12 NA NA NA NA rs17091074 0.34 0.34 0.349 0.353435 0.2316 0.3065 0.3271 0.5492 0.2812 0.21 0.32 0.31 0.56 0.2646 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815716 NA NA 0.225465 0.49773 NA 0.399 NA 3.278335 1324 11 78381678 78381678 C T intronic TENM4 NA NA NA intronic ENSG00000149256 NA NA NA NA NA 11q14.1 NA NA NA NA rs7938204 0.55 0.55 0.568 0.53155 0.7217 0.1954 0.5461 0.7156 0.4233 0.73 0.19 0.58 0.7 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284951 NA NA NA NA NA 0.58 NA 3.2783 1324 14 23868285 23868285 G A intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs439735 0.17 0.17 0.167 0.16873 0.2485 0.0734 0.1614 0.1778 0.1779 0.24 0.06 0.2 0.19 0.2136 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141034 NA NA 0.259651 0.188606 NA 0.196 NA 3.278249 1324 7 36492045 36492045 G A intronic ANLN NA NA NA intronic ENSG00000011426 NA NA NA NA NA 7p14.2 NA NA NA NA rs3801302 0.28 0.28 0.251 0.272364 0.2256 0.4077 0.2493 0.1868 0.3129 0.25 0.43 0.23 0.18 0.2569 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378527 NA NA 0.239302 0.201997 NA 0.254 NA 3.278198 1324 7 1482134 1482134 C G intronic MICALL2 NA NA NA intronic ENSG00000164877 NA NA NA NA NA 7p22.3 NA NA NA NA rs4457225 0.26 0.26 0.247 0.250599 0.2416 0.0446 0.3703 0.4448 0.1247 0.23 0.07 0.36 0.43 0.2509 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.102521 NA NA 0.229419 0.422152 NA 0.413 NA 3.278081 1324 5 79355192 79355192 T A intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs2434302 0.55 0.55 0.541 0.570288 0.5457 0.5198 0.5447 0.6551 0.5511 0.53 0.51 0.56 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863318 NA NA 0.509742 0.628613 ID=COSN167508;OCCURENCE=1(large_intestine) 0.507 NA 3.2778913 1324 7 37890081 37890081 G A intronic NME8 NA NA NA intronic ENSG00000086288,ENSG00000086289 NA NA NA NA NA 7p14.1 NA NA NA NA rs2722371 0.27 0.27 0.27 0.245407 0.2485 0.1815 0.2161 0.4092 0.1074 0.24 0.21 0.22 0.45 0.2306 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94272 NA NA 0.243256 0.368815 NA 0.297 NA 3.277644 1324 19 45797593 45797593 T C intronic MARK4 NA NA NA intronic ENSG00000007047 NA NA NA NA NA 19q13.32 NA NA NA NA rs34313092 0.16 0.16 0.143 0.130391 0.2535 0.0903 0.1326 0.0598 0.1391 0.27 0.09 0.18 0.05 0.2004 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536651 NA NA 0.268488 0.097367 NA 0.094 NA 3.277612 1324 1 95333068 95333068 G T intronic SLC44A3 NA NA NA intronic ENSG00000143036 NA NA NA NA NA 1p21.3 NA NA NA NA rs859096 0.65 0.65 0.616 0.613019 0.7227 0.75 0.6441 0.3396 0.7065 0.71 0.78 0.69 0.36 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208105 NA NA NA NA NA 0.681 NA 3.2773 1324 7 137773291 137773291 T G intronic AKR1D1 NA NA NA intronic ENSG00000122787 NA NA NA NA NA 7q33 NA NA NA NA rs2120846 0.72 0.72 0.717 0.755791 0.7227 0.6548 0.6484 0.9077 0.7648 0.72 0.59 0.66 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.773138 2.773138 NA NA NA NA 0.841 NA 3.2773 1324 15 43244699 43244699 A G intronic UBR1 NA NA NA intronic ENSG00000159459 NA NA NA NA NA 15q15.2 NA NA NA NA rs2277532 0.55 0.55 0.493 0.510383 0.7227 0.6161 0.7176 0.1044 0.5849 0.71 0.6 0.68 0.14 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03833 NA NA NA NA NA 0.428 NA 3.2773 1324 16 28844365 28844365 G A intronic ATXN2L NA NA NA ncRNA_intronic ENSG00000260570 NA NA NA NA NA 16p11.2 NA NA NA NA rs62036657 0.27 0.27 0.249 0.261382 0.329 0.126 0.487 0.2277 0.2168 0.34 0.13 0.41 0.21 0.3462 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869659 NA NA 0.381047 0.269458 ID=COSN165167;OCCURENCE=1(ovary),1(breast),1(lung) 0.159 NA 3.2770863 1324 6 117718303 117718303 A G intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs9401003 0.33 0.33 0.323 0.351238 0.2465 0.2708 0.2954 0.5794 0.273 0.25 0.23 0.32 0.58 0.2532 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272828 NA NA 0.223256 0.482751 NA 0.457 NA 3.277044 1324 13 32832149 32832149 T C intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA Score=329;Name=lod=29 NA 13q13.1 NA NA NA NA rs2520686 0.48 0.48 0.46 0.458666 0.5944 0.4792 0.549 0.2073 0.5736 0.59 0.49 0.57 0.23 0.5343 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.438874 2.438874 NA 0.594472 0.290525 NA 0.435 NA 3.276828 1324 7 44089904 44089904 A G intronic DBNL NA NA NA intronic ENSG00000136279 NA NA NA NA NA 7p13 NA NA NA NA rs3812251 0.25 0.25 0.228 0.255192 0.2406 0.1141 0.2839 0.4017 0.1973 0.25 0.12 0.29 0.37 0.2544 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622016 NA 0 0.228256 0.389015 NA 0.225 NA 3.276744 1324 1 11288618 11288618 G A intronic MTOR NA NA NA intronic ENSG00000198793 NA NA NA NA NA 1p36.22 NA NA NA NA rs4845985 0.66 0.66 0.62 0.638179 0.7237 0.877 0.7622 0.2239 0.7761 0.73 0.88 0.75 0.23 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601418 NA NA NA NA NA 0.652 NA 3.2763 1324 1 11288633 11288633 G C intronic MTOR NA NA NA intronic ENSG00000198793 NA NA NA NA NA 1p36.22 NA NA NA NA rs4845986 0.66 0.66 0.614 0.638179 0.7237 0.877 0.7622 0.2239 0.7761 0.73 0.88 0.75 0.23 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046552 NA NA NA NA NA 0.652 NA 3.2763 1324 1 11293200 11293200 C T intronic MTOR NA NA NA intronic ENSG00000198793 NA NA NA NA NA 1p36.22 NA NA NA NA rs7541998 0.7 0.7 0.641 0.694688 0.7237 0.9187 0.8112 0.3124 0.8681 0.73 0.91 0.8 0.32 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51561 NA NA NA NA NA 0.688 NA 3.2763 1324 2 170129636 170129636 A G intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs830995 0.73 0.73 0.741 0.674321 0.7237 0.8919 0.5461 0.6422 0.5337 0.72 0.88 0.6 0.64 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346376 NA NA NA NA NA 0.681 NA 3.2763 1324 5 172573767 172573767 T C intronic BNIP1 NA NA NA intronic ENSG00000113734 NA NA NA NA NA 5q35.1 NA NA NA NA rs29798 0.58 0.58 0.604 0.583067 0.7237 0.2897 0.5159 0.7269 0.5941 0.73 0.26 0.59 0.72 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224128 NA NA NA NA NA 0.587 NA 3.2763 1324 16 78083742 78083742 C T intergenic CLEC3A,WWOX dist=17741;dist=49585 NA NA ncRNA_exonic ENSG00000260731 NA NA NA NA NA 16q23.1 NA NA NA NA rs4888735 0.59 0.59 0.554 0.57488 0.7237 0.631 0.6398 0.2549 0.7505 0.74 0.62 0.66 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173701 NA NA NA NA NA 0.529 NA 3.2763 1324 16 78083784 78083784 T C intergenic CLEC3A,WWOX dist=17783;dist=49543 NA NA ncRNA_exonic ENSG00000260731 NA NA NA NA NA 16q23.1 NA NA NA NA rs4888736 0.59 0.59 0.533 0.57488 0.7237 0.631 0.6398 0.2549 0.7505 0.74 0.62 0.66 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50891 NA NA NA NA NA 0.529 NA 3.2763 1324 3 190362220 190362220 A T intronic IL1RAP NA NA NA intronic ENSG00000196083 NA NA NA NA NA 3q28 NA NA NA NA rs34590034 0.28 0.28 0.309 0.289936 0.2495 0.0804 0.1599 0.5764 0.2526 0.26 0.09 0.18 0.62 0.242 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.485184 1.485184 NA 0.232558 0.490014 NA 0.333 NA 3.275942 1324 12 11174753 11174753 G A exonic TAS2R19 NA synonymous SNV TAS2R19:NM_176888:exon1:c.C418T:p.L140L exonic ENSG00000212124 NA synonymous SNV ENSG00000212124:ENST00000390673:exon1:c.C418T:p.L140L NA NA 12p13.2 NA NA NA NA rs1868769 0.75 0.75 0.717 0.700879 0.8141 0.8611 0.8026 0.4062 0.7454 0.84 0.9 0.79 0.42 0.7805 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474022 NA NA 0.796163 0.45892 NA 0.71 NA 3.2759036 1324 12 10600282 10600282 C T intronic KLRC1 NA NA NA intronic ENSG00000134545 NA NA NA NA NA 12p13.2 NA NA NA NA rs11053804 0.36 0.36 0.365 0.421126 0.2177 0.3353 0.3199 0.7012 0.4121 0.22 0.3 0.34 0.68 0.3015 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.161814 NA NA 0.205321 0.539289 NA 0.333 NA 3.275479 1324 1 165376229 165376229 C G intronic RXRG NA NA NA intronic ENSG00000143171 NA NA NA NA NA 1q23.3 NA NA NA NA rs10800095 NA NA NA 0.779353 0.7247 0.8423 0.7666 0.7466 0.8241 NA NA NA NA NA 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.066125 NA NA NA NA NA 0.087 NA 3.2753 1324 2 79313815 79313815 G T intronic REG1B NA NA NA intronic ENSG00000172023 NA NA NA NA NA 2p12 NA NA NA NA rs2073445 0.67 0.67 0.654 0.666534 0.7247 0.6974 0.781 0.6067 0.5746 0.72 0.66 0.73 0.57 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916857 NA NA NA NA NA 0.696 NA 3.2753 1324 2 198281743 198281743 T C intronic SF3B1 NA NA NA intronic ENSG00000115524 NA NA NA NA NA 2q33.1 NA NA NA NA rs699318 0.71 0.71 0.754 0.715056 0.7247 0.5179 0.6297 0.8729 0.7556 0.73 0.59 0.64 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161267 NA NA NA NA NA 0.725 NA 3.2753 1324 19 1073073 1073073 A G intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA NA NA NA rs2072102 0.75 0.75 0.734 0.741214 0.7247 0.6409 0.8343 0.8275 0.6789 0.73 0.69 0.8 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39059 NA NA NA NA NA 0.746 NA 3.2753 1324 12 101584210 101584210 T C intronic SLC5A8 NA NA NA intronic ENSG00000256870 NA NA NA NA NA 12q23.1 NA NA NA NA rs1069475 0.33 0.33 0.342 0.321286 0.2485 0.5427 0.1412 0.3729 0.226 0.23 0.52 0.16 0.37 0.2517 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.741498 1.741498 NA 0.224651 0.320699 NA 0.283 NA 3.275149 1325 17 72945334 72945334 T C intronic OTOP3 NA NA NA intronic ENSG00000182938 NA NA NA NA NA 17q25.1 NA NA NA NA rs8068514 0.25 0.25 0.235 0.240016 0.2445 0.2599 0.1916 0.2398 0.2495 0.24 0.25 0.21 0.3 0.2369 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678041 NA NA 0.243721 0.238992 NA 0.159 NA 3.274879 1325 10 32806972 32806972 C T intronic CCDC7 NA NA NA intronic ENSG00000216937 NA NA NA NA NA 10p11.22 NA NA NA NA rs2990984 0.43 0.43 0.391 0.487819 0.3718 0.5863 0.5461 0.4062 0.5746 0.35 0.54 0.49 0.36 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172587 NA NA 0.353443 0.360549 NA 0.464 NA 3.274757 1325 6 29682059 29682059 G A intergenic ZFP57,HLA-F dist=37128;dist=9058 NA NA intergenic ENSG00000233916,ENSG00000204642 dist=5735;dist=8493 NA NA NA NA 6p22.1 NA NA NA NA rs17184695 0.06 0.06 0.044 0.0756789 0.0586 0.1577 0.0375 0.0008 0.137 0.06 0.14 0.03 0.002 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725427 NA NA NA NA NA 0.087 NA 3.2747334 1325 6 29682103 29682103 A G intergenic ZFP57,HLA-F dist=37172;dist=9014 NA NA intergenic ENSG00000233916,ENSG00000204642 dist=5779;dist=8449 NA NA NA NA 6p22.1 NA NA NA NA rs17184702 0.06 0.06 0.043 0.0756789 0.0586 0.1577 0.0375 0.0008 0.137 0.06 0.14 0.03 0.002 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871334 NA NA NA NA NA 0.087 NA 3.2747334 1325 2 171319997 171319997 A C intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA Name=ELF1_(SC-631) NA NA rs12477518 0.38 0.38 0.354 0.355032 0.6143 0.1567 0.4308 0.2103 0.4346 0.61 0.18 0.47 0.19 0.5162 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808463 NA NA 0.594935 0.270188 NA 0.413 NA 3.274565 1325 7 155094172 155094172 C T intronic INSIG1 NA NA NA intronic ENSG00000186480 NA NA NA NA NA 7q36.2 NA NA NA NA rs9718441 0.17 0.17 0.134 0.162141 0.2316 0.002 0.3761 0.1377 0.137 0.24 0.0017 0.35 0.15 0.2301 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133464 NA NA 0.263837 0.174308 NA 0.362 NA 3.274463 1325 2 152303171 152303171 G A intronic RIF1 NA NA NA intronic ENSG00000080345 NA NA NA NA NA 2q23.3 NA NA NA NA rs2432941 0.72 0.72 0.72 0.657348 0.7256 0.756 0.7363 0.5802 0.5337 0.71 0.79 0.75 0.63 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574065 NA NA NA NA NA 0.775 NA 3.2744 1325 4 70288596 70288596 G A intergenic UGT2B28,UGT2B4 dist=127828;dist=57287 NA NA ncRNA_intronic ENSG00000249956 NA NA NA NA NA 4q13.2 NA NA NA NA rs2736508 0.69 0.69 0.621 0.715655 0.7256 0.6032 0.7205 0.7436 0.7802 0.72 0.59 0.7 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96536 NA NA NA NA NA 0.58 NA 3.2744 1325 6 29864871 29864871 T C intergenic HLA-H,HCG4B dist=6015;dist=27498 NA NA ncRNA_exonic ENSG00000231130 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259455 0.63 0.63 0.622 0.677716 0.7256 0.5754 0.7464 0.7027 0.6513 0.69 0.51 0.64 0.67 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019909 NA NA NA NA NA 0.58 NA 3.2744 1325 11 89405190 89405190 A G intronic FOLH1B NA NA NA ncRNA_intronic ENSG00000134612 NA NA NA NA NA 11q14.3 NA NA NA NA rs10047486 0.24 0.24 0.216 0.216454 0.3718 0.1319 0.2435 0.1293 0.2423 0.36 0.13 0.27 0.15 0.3074 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304063 NA NA 0.379739 0.190822 NA 0.319 NA 3.2743943 1325 6 2836266 2836266 T A intronic SERPINB1 NA NA NA intronic ENSG00000021355 NA NA NA NA NA 6p25.2 NA Name=Pol2 NA NA rs385955 0.57 0.57 0.523 0.54992 0.5825 0.5685 0.6614 0.4501 0.5532 0.59 0.61 0.66 0.45 0.5685 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88105 NA NA 0.575233 0.429868 NA 0.457 NA 3.273767 1325 6 29785827 29785827 A C intergenic LOC554223,HLA-G dist=20243;dist=8929 NA NA intergenic ENSG00000237042,ENSG00000204632 dist=5354;dist=8917 NA NA NA NA 6p22.1 NA NA NA NA rs17185419 0.06 0.06 NA 0.0890575 0.0596 0.1964 0.0375 0.0053 0.1585 0.06 0.14 0.03 0.0041 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525097 NA NA NA NA NA NA NA 3.2737334 1325 6 29785828 29785828 G A intergenic LOC554223,HLA-G dist=20244;dist=8928 NA NA intergenic ENSG00000237042,ENSG00000204632 dist=5355;dist=8916 NA NA NA NA 6p22.1 NA NA NA NA rs17185426 0.06 0.06 NA 0.0878594 0.0596 0.1964 0.0375 0.0008 0.1585 0.06 0.14 0.03 0.002 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786346 NA NA NA NA NA NA NA 3.2737334 1325 12 38423378 38423378 G A intergenic NONE,ALG10B dist=NONE;dist=287179 NA NA intergenic ENSG00000258368,ENSG00000257173 dist=453192;dist=48953 NA NA NA NA 12q12 NA NA NA NA rs118177186 0.03 0.03 0.027 0.024361 0.0596 0.0208 0.0317 0.0038 0.0143 0.06 0.01 0.02 0.01 NA 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43568 NA NA NA NA NA 0.029 NA 3.2737334 1325 1 38301250 38301250 A G intronic MTF1 NA NA NA intronic ENSG00000188786 NA NA NA NA NA 1p34.3 NA NA NA NA rs3912368 0.57 0.57 0.541 0.523962 0.7266 0.4792 0.6023 0.295 0.6155 0.74 0.52 0.6 0.33 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.995167 NA NA NA NA NA 0.543 NA 3.2734 1325 1 81892826 81892826 C T intergenic NONE,LPHN2 dist=NONE;dist=373256 NA NA ncRNA_exonic ENSG00000224494 NA NA NA NA NA 1p31.1 NA NA NA NA rs12121921 0.54 0.54 0.524 0.543331 0.7266 0.3502 0.6254 0.4622 0.6053 0.73 0.3 0.61 0.49 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307494 NA NA NA NA NA 0.399 NA 3.2734 1325 5 155771773 155771773 A G intronic SGCD NA NA NA intronic ENSG00000170624 NA NA NA NA NA 5q33.3 NA NA NA NA rs4434364 0.83 0.83 0.844 0.845248 0.7266 0.9067 0.7349 0.9539 0.8354 0.72 0.92 0.74 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.989977 NA NA NA NA NA 0.891 NA 3.2734 1325 10 124747108 124747108 T C intronic PSTK NA NA NA intronic ENSG00000179988 NA NA NA NA NA 10q26.13 NA NA NA NA rs2421154 0.59 0.59 0.612 0.581669 0.7266 0.3929 0.5591 0.6596 0.5378 0.73 0.38 0.59 0.64 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486068 NA NA NA NA NA 0.601 NA 3.2734 1325 22 31658281 31658281 A G intronic LIMK2 NA NA NA intronic ENSG00000182541 NA NA NA NA NA 22q12.2 NA NA NA NA rs2073857 0.82 0.82 0.851 0.845048 0.7266 0.876 0.7478 0.9856 0.8139 0.71 0.87 0.76 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691985 NA NA NA NA NA 0.833 NA 3.2734 1325 2 70015181 70015181 C T intronic ANXA4 NA NA NA intronic ENSG00000196975 NA NA NA NA NA 2p13.3 NA NA NA NA rs10496171 0.25 0.25 0.244 0.28135 0.2435 0.3333 0.2378 0.2663 0.318 0.23 0.28 0.2 0.25 0.2556 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342335 NA NA 0.227674 0.246028 NA 0.268 NA 3.273226 1325 14 23882144 23882144 T C intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs2284651 0.37 0.37 0.393 0.384385 0.3569 0.1577 0.2723 0.7141 0.2802 0.34 0.15 0.32 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124632 NA NA 0.370522 0.681358 NA 0.493 NA 3.272578 1325 3 11831953 11831953 C T UTR3 TAMM41 NM_138807:c.*26G>A NA NA UTR3 ENSG00000144559 ENST00000273037:c.*26G>A,ENST00000455809:c.*26G>A,ENST00000457498:c.*1824G>A NA NA NA NA 3p25.2 NA NA NA NA rs9267 0.27 0.27 0.21 0.236022 0.3668 0.1716 0.4741 0.0749 0.2168 0.37 0.19 0.47 0.09 0.3281 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606629 NA NA 0.36593 0.121425 NA 0.254 NA 3.2725034 1325 2 132182489 132182489 T G intergenic LOC389043,LOC401010 dist=16688;dist=17245 NA NA upstream ENSG00000214077 NA NA NA NA NA 2q21.1 NA NA NA NA rs1880995 0.35 0.35 0.268 0.365216 0.2276 0.754 0.5101 0.1346 0.3149 0.21 0.7 0.4 0.1 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636223 NA NA NA NA NA 0.254 NA 3.2724 1325 17 67212574 67212574 A C intronic ABCA10 NA NA NA intronic ENSG00000154263 NA NA NA NA NA 17q24.3 NA NA NA NA rs9912127 0.64 0.64 0.621 0.667332 0.7276 0.4583 0.7709 0.7126 0.6861 0.72 0.42 0.73 0.69 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39646 NA NA NA NA NA 0.63 NA 3.2724 1325 6 26031868 26031868 G A UTR3 HIST1H3B NM_003537:c.*10C>T NA NA UTR3 ENSG00000124693 ENST00000244661:c.*10C>T NA NA NA NA 6p22.2 NA Name=Pol2,NRSF,Pol2(phosphoS2),Sin3Ak-20,TAF7_(SQ-8),BCLAF1_(M33-P5B11),KAP1,Pol2-4H8,Pol2(b),USF2,ZBTB33,CEBPB,HEY1,NFKB NA NA rs2213284 0.79 0.79 0.778 0.78115 0.67 0.8581 0.7219 0.9448 0.637 0.66 0.89 0.72 0.93 0.7036 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1459 NA NA 0.687442 0.903314 NA 0.732 NA 3.2722914 1325 19 38189616 38189616 T C exonic ZNF607 NA synonymous SNV ZNF607:NM_001172677:exon5:c.A1413G:p.T471T,ZNF607:NM_032689:exon5:c.A1416G:p.T472T exonic ENSG00000198182 NA synonymous SNV ENSG00000198182:ENST00000355202:exon5:c.A1416G:p.T472T,ENSG00000198182:ENST00000395835:exon5:c.A1413G:p.T471T NA NA 19q13.12 NA NA NA NA rs2075284 0.64 0.64 0.63 0.634984 0.834 0.3482 0.7378 0.6498 0.6329 0.84 0.35 0.75 0.6 0.7423 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.751737 NA NA 0.81814 0.692692 NA 0.732 NA 3.2722266 1325 17 38188419 38188419 C T intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA NA NA rs3935281 0.32 0.32 0.296 0.318291 0.3648 0.4246 0.4193 0.0673 0.4284 0.36 0.41 0.42 0.08 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211267 NA NA 0.362979 0.117052 NA 0.362 NA 3.272221 1325 4 154542814 154542814 G T intronic KIAA0922 NA NA NA intronic ENSG00000121210 NA NA NA NA NA 4q31.3 NA NA Name=3 NA rs7663417 0.53 0.53 NA 0.532548 0.5845 0.376 0.5865 0.5575 0.5685 0.6 0.42 0.56 0.53 0.5822 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991455 NA NA 0.561395 0.539946 NA 0.551 NA 3.271905 1325 7 134133291 134133291 G A intronic AKR1B1 NA NA NA intronic ENSG00000085662 NA NA NA NA NA 7q33 NA NA NA NA rs2734653 0.3 0.3 0.241 0.267572 0.2406 0.6131 0.402 0.0113 0.1902 0.24 0.59 0.36 0.02 0.2586 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494079 NA NA 0.228953 0.052655 NA 0.109 NA 3.271847 1325 6 56462840 56462840 G A ncRNA_intronic RNU6-71P NA NA NA intronic ENSG00000151914 NA NA NA NA NA 6p12.1 NA NA NA NA rs9370541 0.32 0.32 0.314 0.310503 0.3569 0.246 0.3545 0.3253 0.2781 0.34 0.24 0.36 0.35 0.3358 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24557 NA NA 0.368891 0.322956 NA 0.37 NA 3.2717423 1325 18 21395358 21395358 G C intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs2155841 0.79 0.79 0.815 0.824481 0.7286 0.8065 0.8098 0.9849 0.7352 0.7 0.8 0.77 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136867 NA NA NA NA NA 0.826 NA 3.2714 1325 9 134003900 134003900 A G intronic NUP214 NA NA NA intronic ENSG00000126883 NA NA NA NA NA 9q34.13 NA NA NA NA rs967174 0.27 0.27 0.255 0.282548 0.2356 0.3889 0.1744 0.2511 0.3405 0.23 0.38 0.17 0.26 0.2519 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608709 NA NA 0.241279 0.241489 ID=COSN168685;OCCURENCE=1(large_intestine) 0.391 NA 3.271221 1325 7 36462205 36462205 G A intronic ANLN NA NA NA intronic ENSG00000011426 NA NA NA NA NA 7p14.2 NA NA NA NA rs2302526 0.28 0.28 0.27 0.272165 0.2256 0.4038 0.2507 0.1884 0.3129 0.25 0.43 0.23 0.18 0.263 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.293273 2.293273 NA 0.240461 0.203813 NA 0.261 NA 3.270939 1325 5 40964816 40964816 C A intronic C7 NA NA NA intronic ENSG00000112936 NA NA NA NA NA 5p13.1 NA NA NA NA rs7713884 0.28 0.28 0.277 0.309505 0.2445 0.3661 0.1571 0.3449 0.3783 0.23 0.34 0.19 0.35 0.2552 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563214 NA NA 0.229508 0.330967 NA 0.254 NA 3.270792 1325 11 119146659 119146659 G C intronic CBL NA NA NA intronic ENSG00000110395 NA NA NA NA NA 11q23.3 NA NA Name=4 NA rs2511854 0.7 0.7 0.723 0.731829 0.5795 0.8829 0.4452 0.8343 0.7975 0.57 0.87 0.49 0.85 0.6033 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943653 NA NA 0.546449 0.782628 NA 0.797 NA 3.270751 1325 4 3180021 3180021 T C intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA Score=704;Name=lod=970 NA 4p16.3 NA NA NA NA rs363096 0.54 0.54 0.522 0.533946 0.5915 0.375 0.5375 0.6831 0.4346 0.58 0.37 0.57 0.67 0.5563 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078884 NA NA 0.581503 0.683449 NA 0.645 NA 3.270697 1325 9 77745424 77745424 T C intronic OSTF1 NA NA NA intronic ENSG00000134996 NA NA NA NA NA 9q21.13 NA NA NA NA rs2295861 0.73 0.73 0.73 0.730431 0.7296 0.6825 0.683 0.8638 0.6339 0.72 0.64 0.71 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074031 NA NA NA NA NA 0.804 NA 3.2704 1325 10 129907741 129907741 G A intronic MKI67 NA NA NA intronic ENSG00000148773 NA NA NA NA NA 10q26.2 NA NA NA NA rs2065718 0.72 0.72 0.725 0.722644 0.7296 0.7391 0.7003 0.6566 0.8037 0.72 0.74 0.75 0.7 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518832 NA NA NA NA NA 0.717 NA 3.2704 1325 11 119497488 119497488 C T intergenic LOC100499227,PVRL1 dist=127544;dist=11320 NA NA ncRNA_intronic ENSG00000254561 NA NA NA NA NA 11q23.3 NA NA NA NA rs7116091 0.73 0.73 0.728 0.741613 0.7296 0.8224 0.7305 0.6672 0.7791 0.72 0.84 0.73 0.63 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883112 NA NA NA NA NA 0.652 NA 3.2704 1325 1 233362930 233362930 G A intronic PCNXL2 NA NA NA intronic ENSG00000135749 NA NA NA NA NA 1q42.2 NA NA NA NA rs701176 0.35 0.35 0.32 0.339657 0.2336 0.5298 0.4769 0.27 0.2495 0.24 0.52 0.43 0.25 0.2863 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188375 NA NA 0.209803 0.235831 ID=COSN163475;OCCURENCE=1(breast) 0.29 NA 3.270297 1325 13 113893729 113893729 G A intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs3794422 0.22 0.22 0.194 0.252396 0.2326 0.3383 0.3242 0.0136 0.456 0.24 0.32 0.3 0.02 0.2665 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.257581 NA NA 0.230698 0.049478 NA 0.188 NA 3.270202 1325 8 39128387 39128387 C T intronic ADAM32 NA NA NA intronic ENSG00000197140 NA NA NA NA NA 8p11.22 NA NA NA NA rs4733994 0.23 0.23 0.195 0.215056 0.2416 0.2917 0.2147 0.1278 0.227 0.25 0.27 0.23 0.14 0.2508 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512533 NA NA 0.237423 0.149147 NA 0.145 NA 3.270177 1325 13 46930536 46930536 C A intronic KIAA0226L NA NA NA ncRNA_intronic ENSG00000241353 NA NA NA NA NA 13q14.13 NA NA NA NA rs181977 0.48 0.48 0.457 0.461661 0.3479 0.5923 0.415 0.5658 0.3364 0.34 0.6 0.42 0.6 0.3864 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484665 NA NA 0.32907 0.516568 NA 0.457 NA 3.2699633 1325 17 11536049 11536049 G A intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs11655911 0.13 0.13 0.123 0.0894569 0.2803 0.002 0.1441 0.0151 0.045 0.27 0.0017 0.18 0.02 0.1877 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155239 NA NA 0.262209 0.053109 NA 0.043 NA 3.269791 1325 2 208811284 208811284 C T intronic PLEKHM3 NA NA NA intronic ENSG00000178385 NA NA NA NA NA 2q33.3 NA NA NA NA rs10932216 0.19 0.19 0.178 0.15615 0.2485 0.2381 0.1729 0.0318 0.1329 0.25 0.24 0.17 0.04 0.2221 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06625 NA NA 0.25962 0.063163 NA 0.138 NA 3.26978 1325 6 29785958 29785958 C G intergenic LOC554223,HLA-G dist=20374;dist=8798 NA NA intergenic ENSG00000237042,ENSG00000204632 dist=5485;dist=8786 NA NA NA NA 6p22.1 NA NA NA NA rs17179038 0.07 0.07 0.044 0.0894569 0.0636 0.1974 0.0389 0.0015 0.1595 0.06 0.15 0.04 0.002 NA 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.094636 NA NA NA NA NA 0.094 NA 3.2697334 1325 6 29864852 29864852 C T intergenic HLA-H,HCG4B dist=5996;dist=27517 NA NA ncRNA_exonic ENSG00000231130 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259452 0.63 0.63 0.611 0.679313 0.7306 0.5764 0.7478 0.7035 0.6513 0.7 0.51 0.64 0.67 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077172 NA NA NA NA NA 0.601 NA 3.2694 1325 6 29864865 29864865 T C intergenic HLA-H,HCG4B dist=6009;dist=27504 NA NA ncRNA_exonic ENSG00000231130 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259454 0.63 0.63 0.601 0.679313 0.7306 0.5764 0.7478 0.7035 0.6513 0.7 0.51 0.64 0.67 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184322 NA NA NA NA NA 0.565 NA 3.2694 1325 13 19701025 19701025 G C intergenic LINC00442,RNU6-52P dist=114251;dist=16097 NA NA ncRNA_intronic ENSG00000224778 NA NA NA NA NA 13q12.11 NA NA NA NA rs4531588 0.68 0.68 0.684 0.66254 0.7306 0.5546 0.6888 0.6959 0.6401 0.73 0.56 0.71 0.71 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.108751 NA NA NA NA NA 0.71 NA 3.2694 1325 13 52542796 52542796 T G intronic ATP7B NA NA NA intronic ENSG00000123191 NA NA NA NA NA 13q14.3 NA NA NA NA rs2147363 0.64 0.64 0.641 0.611821 0.7306 0.4841 0.6499 0.7035 0.4703 0.72 0.47 0.69 0.7 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574556 NA NA NA NA NA 0.667 NA 3.2694 1325 16 114535 114535 A G intronic RHBDF1 NA NA NA intronic ENSG00000007384 NA NA NA NA NA 16p13.3 NA NA NA NA rs2562147 0.71 0.71 0.658 0.734225 0.7306 0.75 0.7738 0.6309 0.8333 0.73 0.72 0.81 0.59 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234088 NA NA NA NA NA 0.783 NA 3.2694 1325 9 134004912 134004912 A C intronic NUP214 NA NA NA intronic ENSG00000126883 NA NA NA NA NA 9q34.13 NA NA NA NA rs3736957 0.28 0.28 0.289 0.295128 0.2346 0.4206 0.1787 0.2723 0.3415 0.23 0.42 0.18 0.27 0.2544 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228887 NA NA 0.241744 0.254653 NA 0.391 NA 3.269256 1325 12 125457151 125457151 T C intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs12320413 0.18 0.18 0.172 0.189097 0.2604 0.0496 0.1412 0.2186 0.2536 0.26 0.05 0.15 0.23 0.2275 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214116 NA NA 0.242907 0.237177 NA 0.196 NA 3.269193 1325 21 44837551 44837551 G A exonic SIK1 NA synonymous SNV SIK1:NM_173354:exon13:c.C1848T:p.P616P exonic ENSG00000142178 NA synonymous SNV ENSG00000142178:ENST00000270162:exon13:c.C1848T:p.P616P NA NA 21q22.3 NA NA NA NA rs430552 0.75 0.75 0.743 0.725439 0.7922 0.8849 0.8617 0.4803 0.727 0.78 0.88 0.85 0.48 0.8 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.086693 NA NA 0.805393 0.564002 NA 0.609 NA 3.2690736 1325 2 170623622 170623622 G C intergenic PHOSPHO2-KLHL23,SSB dist=15226;dist=31700 NA NA intronic ENSG00000213160 NA NA NA NA NA 2q31.1 NA NA NA NA rs10803841 0.43 0.43 0.401 0.416334 0.3976 0.5268 0.4712 0.3275 0.4029 0.38 0.55 0.48 0.32 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943455 NA NA NA NA NA 0.37 NA 3.2690667 1325 10 115327193 115327193 A G intronic HABP2 NA NA NA intronic ENSG00000148702 NA NA NA NA NA 10q25.3 NA NA NA NA rs2286745 0.22 0.22 0.196 0.218051 0.337 0.0933 0.2046 0.2216 0.229 0.34 0.09 0.22 0.2 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215726 NA NA 0.394092 0.248555 NA 0.261 NA 3.268908 1325 4 37590570 37590570 G A intronic C4orf19 NA NA NA intronic ENSG00000154274 NA NA NA NA NA 4p14 NA NA NA NA rs2279994 0.18 0.18 0.176 0.151358 0.2624 0.0754 0.1729 0.118 0.1452 0.26 0.1 0.18 0.14 0.2097 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.007639 NA NA 0.25907 0.151158 NA 0.21 NA 3.26883 1325 1 16319862 16319862 G C intergenic ZBTB17,C1orf64 dist=17235;dist=10869 NA NA ncRNA_exonic ENSG00000224966 NA NA NA NA NA 1p36.13 NA NA NA NA rs1999736 0.73 0.73 0.735 0.728435 0.7316 0.6855 0.7349 0.7935 0.6769 0.72 0.7 0.75 0.78 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548902 NA NA NA NA NA 0.797 NA 3.2684 1325 1 42506381 42506381 T C intergenic NONE,GUCA2B dist=NONE;dist=112711 NA NA ncRNA_exonic ENSG00000227538 NA NA NA NA NA 1p34.2 NA NA NA NA rs10890177 0.77 0.77 0.778 0.772963 0.7316 0.9702 0.6513 0.6558 0.8569 0.74 0.97 0.67 0.68 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181315 NA NA NA NA NA 0.71 NA 3.2684 1325 4 68904834 68904834 T G intergenic TMPRSS11GP,TMPRSS11F dist=41677;dist=14082 NA NA ncRNA_exonic ENSG00000227725 NA NA NA NA NA 4q13.2 NA NA NA NA rs9999589 0.67 0.67 0.609 0.64996 0.7316 0.8651 0.5648 0.4024 0.7393 0.74 0.87 0.62 0.36 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103154 NA NA NA NA NA 0.659 NA 3.2684 1325 6 29864754 29864754 T C intergenic HLA-H,HCG4B dist=5898;dist=27615 NA NA ncRNA_intronic ENSG00000231130 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259451 0.71 0.71 0.722 0.694688 0.7316 0.5903 0.7723 0.7292 0.6626 0.72 0.6 0.72 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279409 NA NA NA NA NA 0.594 NA 3.2684 1325 8 125207690 125207690 T C intergenic FER1L6,TMEM65 dist=75388;dist=115469 NA NA ncRNA_intronic ENSG00000214803 NA NA NA NA NA 8q24.13 NA NA NA NA rs5027167 0.76 0.76 0.756 0.77476 0.7316 0.9484 0.7824 0.6067 0.862 0.72 0.95 0.73 0.63 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06081 NA NA NA NA NA 0.688 NA 3.2684 1325 16 81962071 81962071 A C intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs4366702 0.73 0.73 0.708 0.688898 0.7316 0.8145 0.817 0.4932 0.6892 0.73 0.82 0.81 0.56 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.930886 2.930886 NA NA NA NA 0.746 NA 3.2684 1325 22 31493460 31493460 T C intronic SMTN NA NA NA intronic ENSG00000183963 NA NA NA NA NA 22q12.2 NA NA NA NA rs5753458 0.73 0.73 0.73 0.740216 0.7316 0.5813 0.6412 0.9607 0.6851 0.73 0.55 0.69 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74726 NA NA NA NA NA 0.688 NA 3.2684 1325 1 6154417 6154417 C T intronic KCNAB2 NA NA NA intronic ENSG00000069424 NA NA NA NA NA 1p36.31 NA NA NA NA rs2294932 0.25 0.25 0.219 0.23103 0.2515 0.3899 0.2233 0.1331 0.184 0.24 0.36 0.25 0.12 0.2509 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.650793 1.650793 NA 0.229201 0.147675 NA 0.297 NA 3.268399 1325 9 112199146 112199146 A G intronic PTPN3 NA NA NA intronic ENSG00000070159 NA NA NA NA NA 9q31.3 NA NA NA NA rs4978809 0.2 0.2 0.186 0.186901 0.2425 0.0665 0.3501 0.1604 0.1738 0.24 0.06 0.33 0.19 0.2399 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367004 NA NA 0.249302 0.184975 NA 0.297 NA 3.268298 1325 18 51904498 51904498 G A intronic C18orf54 NA NA NA intronic ENSG00000166845 NA NA NA NA NA 18q21.2 NA NA NA NA rs3753057 0.2 0.2 0.195 0.178115 0.2535 0.2877 0.219 0.0076 0.1892 0.24 0.27 0.23 0.01 0.2254 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081883 NA NA 0.252966 0.060173 NA 0.152 NA 3.268134 1325 13 113513682 113513682 C G intronic ATP11A NA NA NA intronic ENSG00000068650 NA NA NA NA NA 13q34 NA NA NA NA rs10492684 0.16 0.16 0.113 0.154153 0.2744 0.0823 0.2954 0.0219 0.183 0.25 0.07 0.28 0.04 0.2126 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595782 NA NA 0.245581 0.048116 NA 0.123 NA 3.267419 1325 18 67365585 67365585 A G intronic DOK6 NA NA NA intronic ENSG00000206052 NA NA NA NA NA 18q22.2 NA NA NA NA rs4581806 0.71 0.71 0.665 0.698283 0.7326 0.9464 0.7752 0.3911 0.7679 0.73 0.94 0.78 0.37 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638079 NA NA NA NA NA 0.717 NA 3.2674 1325 20 44208011 44208011 C T upstream WFDC8 NA NA NA upstream ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs7273669 0.22 0.22 0.219 0.220847 0.3996 0.003 0.2363 0.2345 0.2321 0.4 NA 0.25 0.2 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369412 NA NA NA NA NA 0.348 NA 3.2670666 1325 12 27468313 27468313 A G intronic STK38L NA NA NA intronic ENSG00000211455 NA NA NA NA NA 12p11.23 NA NA NA NA rs2346053 0.33 0.33 0.355 0.357628 0.2237 0.2956 0.3098 0.5688 0.3078 0.23 0.31 0.27 0.56 0.2788 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887726 NA NA 0.230456 0.522923 NA 0.333 NA 3.267044 1325 19 50315773 50315773 T A intronic FUZ NA NA NA UTR3 ENSG00000010361 ENST00000525800:c.*44A>T,ENST00000527111:c.*44A>T,ENST00000526435:c.*44A>T NA NA NA NA 19q13.33 NA NA NA NA rs2305918 0.34 0.34 0.325 0.366414 0.4592 0.2361 0.3098 0.3404 0.4806 0.45 0.22 0.35 0.31 0.4406 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701799 NA NA NA NA NA 0.283 NA 3.2668667 1325 14 100166300 100166300 T C intronic CYP46A1 NA NA NA intronic ENSG00000036530 NA NA NA NA NA 14q32.2 NA NA NA NA rs943881 0.26 0.26 0.253 0.274361 0.3748 0.2212 0.255 0.1619 0.3916 0.38 0.2 0.25 0.16 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253898 NA NA 0.358459 0.155931 NA 0.275 NA 3.266741 1325 7 152951256 152951256 T C intergenic ACTR3B,DPP6 dist=398792;dist=633163 NA NA intergenic ENSG00000224104,ENSG00000234722 dist=109583;dist=145749 NA NA NA NA 7q36.2 NA NA NA NA rs36052781 0.1 0.1 0.089 0.103834 0.0666 0.0317 0.072 0.2519 0.0389 0.06 0.03 0.07 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61505 NA NA NA NA NA 0.109 NA 3.2667334 1325 18 47017820 47017820 A G intronic RPL17,RPL17-C18orf32 NA NA NA ncRNA_intronic ENSG00000265496 NA NA NA NA NA 18q21.1 NA NA NA NA rs1943676 0.38 0.38 0.32 0.366214 0.3628 0.4147 0.4539 0.2882 0.363 0.36 0.42 0.42 0.34 0.3663 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041166 NA NA 0.337719 0.285947 NA 0.37 NA 3.2665143 1325 5 137735754 137735754 A T intronic KDM3B NA NA NA intronic ENSG00000120733 NA NA NA NA NA 5q31.2 NA NA NA NA rs4835680 0.73 0.73 0.728 0.749201 0.7336 0.8502 0.7579 0.5756 0.8896 0.74 0.87 0.71 0.57 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124569 NA NA NA NA NA 0.717 NA 3.2664 1325 7 2290372 2290372 C T intronic NUDT1 NA NA NA intronic ENSG00000106268 NA NA NA NA NA 7p22.3 NA NA NA NA rs10230822 0.68 0.68 0.69 0.676917 0.7336 0.6726 0.6628 0.671 0.6411 0.74 0.65 0.65 0.64 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888291 NA NA NA NA NA 0.652 NA 3.2664 1325 17 39436909 39436909 C T intergenic KRTAP9-7,KRTAP29-1 dist=4450;dist=21169 NA NA ncRNA_exonic ENSG00000237183 NA NA NA NA NA 17q21.2 NA NA NA NA rs2320374 NA NA 0.631 0.681709 0.7336 0.6319 0.8012 0.5265 0.8047 NA NA NA NA NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684832 NA NA NA NA NA 0.558 NA 3.2664 1325 18 21400028 21400028 G T intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs6507956 0.82 0.82 0.838 0.825679 0.7336 0.8065 0.8098 0.9864 0.7342 0.72 0.82 0.8 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231803 NA NA NA NA NA 0.826 NA 3.2664 1325 4 76956179 76956179 G A intronic ART3,CXCL11 NA NA NA intronic ENSG00000156219,ENSG00000169248 NA NA NA NA NA 4q21.1 NA NA NA NA rs12649185 0.25 0.25 0.226 0.214457 0.2435 0.3909 0.2954 0.0356 0.1871 0.23 0.42 0.31 0.04 0.2437 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273308 NA NA 0.246453 0.073082 NA 0.101 NA 3.266347 1325 22 23247025 23247025 G A intergenic IGLL5,RTDR1 dist=9012;dist=154568 NA NA upstream ENSG00000211678 NA NA NA NA NA 22q11.22 NA NA NA NA rs2009423 NA NA 0.149 NA NA NA NA NA NA NA NA NA NA 0.2337 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462737 NA NA NA NA NA 0.022 NA 3.2663 1325 7 142206473 142206473 G A intergenic LOC730441,MTRNR2L6 dist=234405;dist=167658 NA NA downstream ENSG00000229769 NA NA NA NA NA 7q34 NA NA Name=4 NA rs11764626 0.26 0.26 0.239 0.219449 0.4165 0.1994 0.3184 0.0802 0.1554 0.43 0.14 0.33 0.1 0.3671 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711812 NA NA 0.450522 0.13439 NA 0.225 NA 3.265878 1325 15 76114358 76114358 A C intergenic MIR4313,UBE2Q2 dist=59702;dist=21264 NA NA intergenic ENSG00000252372,ENSG00000140367 dist=4854;dist=21264 NA NA NA NA 15q24.2 NA NA NA NA rs17341589 0.05 0.05 0.038 0.0371406 0.0676 NA 0.0432 0.0499 0.0225 0.07 NA 0.04 0.06 NA 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250169 1.250169 NA NA NA NA 0.065 NA 3.2657334 1325 17 56621359 56621359 T C exonic C17orf47 NA synonymous SNV C17orf47:NM_001038704:exon1:c.A189G:p.S63S exonic ENSG00000181013 NA synonymous SNV ENSG00000181013:ENST00000321691:exon1:c.A189G:p.S63S NA NA 17q22 NA NA NA NA rs6503867 0.89 0.89 0.899 0.910343 0.7714 0.999 0.8718 0.9652 0.9151 0.79 1 0.84 0.96 0.845 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049848 NA NA 0.784651 0.943259 NA 0.775 NA 3.2656156 1325 11 49194894 49194894 G A intronic FOLH1 NA NA NA intronic ENSG00000086205 NA NA NA NA NA 11p11.12 NA NA NA NA rs175849 0.35 0.35 0.325 0.396965 0.2256 0.3165 0.2911 0.6452 0.3957 0.23 0.34 0.27 0.61 0.2845 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382472 NA NA 0.224343 0.553158 NA 0.312 NA 3.265557 1325 3 8988809 8988809 C T intronic RAD18 NA NA NA intronic ENSG00000070950 NA NA NA NA NA 3p25.3 NA NA NA NA rs689296 0.5 0.5 0.481 0.493011 0.7346 0.3581 0.6455 0.1452 0.7454 0.73 0.4 0.61 0.16 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.247004 1.247004 NA NA NA NA 0.551 NA 3.2654 1325 7 142157895 142157895 G C intergenic LOC730441,MTRNR2L6 dist=185827;dist=216236 NA NA upstream ENSG00000227550 NA NA NA NA NA 7q34 NA NA NA NA rs2734204 0.24 0.24 0.2 0.223243 0.2346 0.1567 0.3775 0.2095 0.1892 0.23 0.15 0.35 0.25 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.123287 3.123287 NA NA NA NA 0.239 NA 3.2654 1325 9 117390300 117390300 C A intronic C9orf91 NA NA NA intronic ENSG00000157693 NA NA NA NA NA 9q32 NA NA NA NA rs7031094 0.66 0.66 0.66 0.614018 0.7346 0.6706 0.6499 0.5386 0.5082 0.73 0.66 0.65 0.58 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17109 NA NA NA NA NA 0.746 NA 3.2654 1325 20 24950373 24950373 A C intronic APMAP NA NA NA intronic ENSG00000101474 NA NA NA NA NA 20p11.21 NA NA NA NA rs2064404 0.82 0.82 0.789 0.801717 0.7346 0.996 0.8285 0.6959 0.7945 0.73 0.99 0.83 0.74 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169177 NA NA NA NA NA 0.833 NA 3.2654 1325 1 110171705 110171705 A C intronic AMPD2 NA NA NA ncRNA_intronic ENSG00000228703 NA NA NA NA NA 1p13.3 NA NA Name=7 NA rs523786 0.8 0.8 0.804 0.830272 0.6779 0.9802 0.7795 0.8132 0.8916 0.67 0.99 0.76 0.83 0.7428 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010955 NA NA 0.647558 0.813436 NA 0.804 NA 3.2650753 1325 3 121400725 121400725 G A intronic GOLGB1 NA NA NA intronic ENSG00000173230 NA NA NA NA NA 3q13.33 NA NA NA NA rs1463736 0.28 0.28 0.258 0.25 0.2505 0.4841 0.1614 0.1649 0.1861 0.25 0.47 0.2 0.16 0.239 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.240835 2.240835 NA 0.245465 0.159782 NA 0.188 NA 3.265035 1326 4 858866 858866 G A intronic GAK NA NA NA intronic ENSG00000178950 NA NA NA NA NA 4p16.3 NA NA NA NA rs1026739 0.24 0.24 0.245 0.270966 0.2157 0.3671 0.2752 0.2126 0.3047 0.2 0.33 0.25 0.21 0.3016 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070771 NA NA 0.218023 0.226509 NA 0.232 NA 3.264677 1326 9 98229389 98229389 C G ncRNA_exonic LOC100507346 NA NA NA intronic ENSG00000185920 NA NA NA NA NA 9q22.32 NA NA NA NA rs2066829 0.4 0.4 0.412 0.390575 0.3459 0.3383 0.2305 0.6793 0.2137 0.36 0.34 0.22 0.66 0.3583 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076656 NA NA 0.364535 0.628461 NA 0.348 NA 3.2645983 1326 17 7852528 7852528 C T intronic CNTROB NA NA NA UTR3 ENSG00000170037 ENST00000571632:c.*2513C>T NA NA NA NA 17p13.1 NA NA NA NA rs7211792 0.58 0.58 0.553 0.630391 0.4493 0.8016 0.67 0.5408 0.7331 0.46 0.74 0.61 0.56 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.690108 1.690108 NA 0.45286 0.557081 NA 0.558 NA 3.2645067 1326 2 89472419 89472419 T C intergenic MIR4436A,NONE dist=360451;dist=NONE NA NA upstream ENSG00000253625 NA NA NA NA NA 2p11.2 NA NA NA NA rs7424726 0.38 0.38 0.377 0.450479 0.2356 0.5 0.4986 0.6467 0.3211 0.19 0.5 0.4 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631409 NA NA NA NA NA 0.138 NA 3.2644 1326 16 28915527 28915527 G A UTR3 ATP2A1 NM_004320:c.*64G>A,NM_173201:c.*1G>A NA NA UTR3 ENSG00000196296 ENST00000357084:c.*1G>A,ENST00000395503:c.*64G>A,ENST00000536376:c.*64G>A NA NA NA NA 16p11.2 NA NA NA NA rs10499 0.8 0.8 0.84 0.81869 0.6998 0.8839 0.5432 0.9909 0.8364 0.69 0.87 0.64 0.99 0.706 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469351 NA NA 0.66314 0.924215 NA 0.891 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082694.1;CLNDSDB=.;CLNDSDBID=. 3.2643934 1326 2 242607924 242607924 A G intronic ATG4B NA NA NA intronic ENSG00000168397 NA NA NA NA NA 2q37.3 NA NA NA NA rs62190301 0.22 0.22 0.169 0.205072 0.2336 0.2937 0.2089 0.0809 0.2495 0.25 0.3 0.21 0.1 0.2947 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813302 NA NA 0.207373 0.097 NA 0.232 NA 3.264327 1326 11 124179656 124179656 G T downstream OR8D1 NA NA NA downstream ENSG00000196341 NA NA NA NA NA 11q24.2 NA NA NA NA rs4936917 0.32 0.32 0.287 0.266174 0.4026 0.4187 0.3357 0.0877 0.1605 0.39 0.42 0.36 0.07 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.507327 NA NA NA NA NA 0.181 NA 3.2640666 1326 4 114421712 114421712 C T intronic CAMK2D NA NA NA intronic ENSG00000145349 NA NA NA NA NA 4q26 NA NA NA NA rs17446453 0.15 0.15 0.15 0.128594 0.2783 0.0883 0.1585 0.0234 0.137 0.28 0.08 0.19 0.02 0.2047 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565704 NA NA 0.253023 0.0604 NA 0.13 NA 3.263977 1326 6 33625696 33625696 T C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2274200 0.22 0.22 0.18 0.203674 0.2435 0.2599 0.2882 0.0295 0.2802 0.25 0.29 0.31 0.03 0.2627 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.2158 2.2158 NA 0.229884 0.064231 NA 0.239 NA 3.263916 1326 2 89472415 89472415 A G intergenic MIR4436A,NONE dist=360447;dist=NONE NA NA upstream ENSG00000253625 NA NA NA NA NA 2p11.2 NA NA NA NA rs7426367 0.37 0.37 0.403 0.427117 0.2366 0.4692 0.3602 0.6505 0.3252 0.19 0.47 0.3 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680853 NA NA NA NA NA 0.246 NA 3.2634 1326 3 194313832 194313832 T C intronic TMEM44 NA NA NA intronic ENSG00000145014 NA NA NA NA NA 3q29 NA Name=PU.1 Name=20 NA rs1773184 0.95 0.95 0.954 0.949081 0.9105 0.9702 0.951 0.9554 0.9571 0.91 0.97 0.96 0.97 0.9235 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.259097 NA NA 0.903023 0.949387 NA 0.942 NA 3.262977 1326 4 90168882 90168882 G A UTR3 GPRIN3 NM_198281:c.*49C>T NA NA UTR3 ENSG00000185477 ENST00000333209:c.*49C>T NA NA NA NA 4q22.1 NA NA NA NA rs13115988 0.45 0.45 0.435 0.501198 0.338 0.6081 0.5288 0.4342 0.6299 0.33 0.6 0.49 0.42 0.4074 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.87663 NA NA 0.325349 0.406037 NA 0.449 NA 3.2625844 1326 1 43357600 43357600 T C intergenic ZNF691,SLC2A1 dist=39454;dist=33446 NA NA ncRNA_exonic ENSG00000237090 NA NA NA NA NA 1p34.2 NA NA NA NA rs1681855 0.72 0.72 0.695 0.688299 0.7376 0.6448 0.7867 0.6846 0.6176 0.75 0.69 0.76 0.68 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511098 NA NA NA NA NA 0.746 NA 3.2624 1326 6 29895816 29895816 A T intergenic HCG4B,HLA-A dist=2388;dist=14431 NA NA ncRNA_intronic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs2517760 0.74 0.74 0.656 0.795927 0.7376 0.9028 0.804 0.7095 0.8569 0.72 0.85 0.71 0.68 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020352 NA NA NA NA NA 0.71 NA 3.2624 1326 7 33059407 33059407 A G intronic NT5C3A NA NA NA intronic ENSG00000105778,ENSG00000122643 NA NA NA NA NA 7p14.3 NA NA NA NA rs2392209 0.76 0.76 0.765 0.76897 0.7376 0.6121 0.7651 0.9357 0.7403 0.74 0.64 0.75 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779653 NA NA NA NA NA 0.833 NA 3.2624 1326 11 26702482 26702482 T A intronic SLC5A12 NA NA NA intronic ENSG00000148942 NA NA NA NA NA 11p14.2 NA NA NA NA rs10767569 0.56 0.56 0.565 0.52496 0.7376 0.5913 0.513 0.2201 0.6585 0.74 0.6 0.54 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266502 NA NA NA NA NA 0.5 NA 3.2624 1326 11 117034729 117034729 T C intronic PAFAH1B2 NA NA NA intronic ENSG00000168092 NA NA NA NA NA 11q23.3 NA NA NA NA rs10790175 0.53 0.53 0.5 0.470447 0.7376 0.373 0.621 0.3071 0.41 0.74 0.37 0.66 0.31 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.195546 NA NA NA NA NA 0.558 NA 3.2624 1326 14 94776401 94776401 T C intronic SERPINA6 NA NA NA intronic ENSG00000170099 NA NA NA NA NA 14q32.13 NA NA NA NA rs11160168 0.79 0.79 0.794 0.782548 0.7376 0.9921 0.8329 0.652 0.7536 0.73 0.99 0.82 0.65 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336792 NA NA NA NA NA 0.768 NA 3.2624 1326 19 9301955 9301955 G C intergenic OR7D2,OR7D4 dist=2462;dist=22571 NA NA upstream ENSG00000267775 NA NA NA NA NA 19p13.2 NA NA NA NA rs68119574 0.2 0.2 0.19 0.198482 0.2376 0.2391 0.1527 0.0953 0.2883 0.23 0.26 0.17 0.09 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.202269 NA NA NA NA NA 0.181 NA 3.2624 1326 13 26436425 26436425 A G intronic ATP8A2 NA NA NA intronic ENSG00000132932 NA NA NA NA NA 13q12.13 NA NA NA NA rs34674796 0.2 0.2 0.18 0.194089 0.2565 0.2014 0.2378 0.09 0.2321 0.25 0.21 0.23 0.07 0.2283 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616412 NA NA 0.25282 0.104534 NA 0.152 NA 3.26238 1326 5 78587135 78587135 A T intronic JMY NA NA NA intronic ENSG00000152409 NA NA NA NA NA 5q14.1 NA NA NA NA rs17234734 0.13 0.13 0.116 0.115815 0.2744 0.002 0.1527 0.0151 0.18 0.27 0.0017 0.16 0.03 0.2022 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.53503 1.53503 NA 0.26123 0.04951 NA 0.109 NA 3.26217 1326 10 124034528 124034528 G T intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA NA NA rs7096744 0.49 0.49 0.507 0.479233 0.3748 0.622 0.4712 0.5439 0.3579 0.38 0.64 0.47 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795486 NA NA 0.363294 0.551301 NA 0.391 NA 3.261906 1326 13 113889499 113889499 A G intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs2287251 0.24 0.24 0.215 0.272165 0.2336 0.3393 0.3285 0.0832 0.4581 0.24 0.32 0.31 0.09 0.2734 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915116 NA NA 0.231163 0.111893 NA 0.217 NA 3.261837 1326 11 45891418 45891418 G A intronic CRY2 NA NA NA intronic ENSG00000121671 NA NA NA NA NA 11p11.2 NA NA NA NA rs7123390 0.17 0.17 0.159 0.164936 0.2545 0.125 0.1412 0.1263 0.183 0.24 0.12 0.15 0.13 0.2252 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.309788 NA NA 0.258539 0.136469 NA 0.217 NA 3.261761 1326 9 130634944 130634944 T C intronic AK1 NA NA NA ncRNA_intronic ENSG00000257524 NA NA NA NA NA 9q34.11 NA NA NA NA rs743537 0.32 0.32 0.333 0.364417 0.3539 0.1399 0.2565 0.5106 0.4857 0.34 0.16 0.3 0.51 0.3559 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449402 NA NA 0.362209 0.503631 NA 0.384 NA 3.2613243 1326 7 39243978 39243978 A G intronic POU6F2 NA NA NA intronic ENSG00000106536 NA NA NA NA NA 7p14.1 NA NA NA NA rs35489214 0.35 0.35 0.303 0.36262 0.3648 0.1468 0.4539 0.3933 0.4765 0.36 0.19 0.41 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.630381 1.630381 NA 0.374293 0.377168 NA 0.312 NA 3.260907 1326 16 21147885 21147885 T C intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs3743698 0.27 0.27 0.25 0.2498 0.2336 0.2946 0.3646 0.1853 0.226 0.26 0.31 0.31 0.2 0.2617 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174326 NA NA 0.24407 0.20786 ID=COSN165132;OCCURENCE=1(breast) 0.326 NA 3.26063 1326 2 239235857 239235857 A G intronic TRAF3IP1 NA NA NA intronic ENSG00000204104 NA NA NA NA NA 2q37.3 NA NA NA NA rs6728430 0.68 0.68 0.659 0.659145 0.7396 0.4851 0.7277 0.7065 0.6431 0.75 0.5 0.76 0.73 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035889 NA NA NA NA NA 0.638 NA 3.2604 1326 7 76990126 76990126 C T intronic GSAP NA NA NA intronic ENSG00000186088 NA NA NA NA NA 7q11.23 NA NA NA NA rs4727365 0.28 0.28 0.285 0.300519 0.2316 0.0873 0.2147 0.5439 0.3231 0.24 0.09 0.25 0.58 0.2595 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491934 NA NA 0.248721 0.492737 NA 0.275 NA 3.260179 1326 19 15763798 15763798 G C intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs2683039 0.2 0.2 0.188 0.195887 0.2694 0.1558 0.1671 0.1067 0.3027 0.27 0.18 0.2 0.12 0.223 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008476 NA NA 0.247558 0.152519 NA 0.203 NA 3.260042 1326 8 87544832 87544832 A G intronic CPNE3 NA NA NA intronic ENSG00000085719 NA NA NA NA NA 8q21.3 NA NA NA NA rs72690457 0.17 0.17 0.159 0.149361 0.2535 0.0496 0.1268 0.1596 0.1472 0.27 0.06 0.16 0.17 0.2166 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705927 NA NA 0.270081 0.205402 NA 0.145 NA 3.259819 1326 16 53396356 53396356 T C intergenic CHD9,LOC643802 dist=34942;dist=6918 NA NA ncRNA_exonic ENSG00000259962 NA NA NA NA NA 16q12.2 NA NA NA NA rs2908778 0.74 0.74 0.709 0.738818 0.7406 0.9196 0.7118 0.5953 0.7638 0.74 0.91 0.7 0.57 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044474 NA NA NA NA NA 0.688 NA 3.2594 1326 13 19725673 19725673 C G intergenic RNU6-52P,TUBA3C dist=8456;dist=22237 NA NA downstream ENSG00000234894 NA NA NA NA NA 13q12.11 NA NA NA NA rs7984192 0.24 0.24 0.195 0.248602 0.2406 0.3839 0.2651 0.087 0.3241 0.24 0.38 0.24 0.08 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750023 NA NA NA NA NA 0.196 NA 3.2594 1326 16 15156971 15156971 A G intronic RRN3 NA NA NA intronic ENSG00000085721,ENSG00000179889 NA NA NA NA NA 16p13.11 NA NA NA NA rs2941259 0.61 0.61 0.572 0.591853 0.7406 0.498 0.7882 0.3744 0.6902 0.74 0.54 0.8 0.37 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46285 NA NA NA NA NA 0.667 NA 3.2594 1326 9 105763912 105763912 T C intronic CYLC2 NA NA NA intronic ENSG00000155833 NA NA NA NA NA 9q31.1 NA NA NA NA rs10820335 0.17 0.17 0.16 0.15595 0.2435 0.1032 0.2478 0.0809 0.1564 0.24 0.13 0.23 0.09 0.2395 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241935 1.241935 NA 0.257993 0.097267 NA 0.246 NA 3.259007 1326 1 169580717 169580717 T C intronic SELP NA NA NA intronic ENSG00000174175 NA NA NA NA NA 1q24.2 NA NA NA NA rs3917731 0.13 0.13 0.125 0.107827 0.2565 0.001 0.1427 0.0492 0.1196 0.26 0.0017 0.15 0.06 0.2028 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.849129 NA NA 0.28186 0.0867 NA 0.123 NA 3.25884 1326 21 40191431 40191431 T G exonic ETS2 NA synonymous SNV ETS2:NM_005239:exon8:c.T816G:p.T272T,ETS2:NM_001256295:exon9:c.T1236G:p.T412T exonic ENSG00000157557 NA synonymous SNV ENSG00000157557:ENST00000360938:exon8:c.T816G:p.T272T,ENSG00000157557:ENST00000360214:exon9:c.T816G:p.T272T NA NA 21q22.2 NA NA NA NA rs457705 0.64 0.64 0.628 0.58107 0.838 0.4563 0.5778 0.5628 0.4724 0.84 0.43 0.63 0.57 0.722 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123797 NA NA 0.847907 0.621652 ID=COSM1483938,COSM444459;OCCURENCE=1(breast) 0.638 NA 3.2587596 1326 11 43905484 43905484 T G intronic ALKBH3 NA NA NA intronic ENSG00000166199 NA NA NA NA NA 11p11.2 NA NA NA NA rs2271817 0.24 0.24 0.208 0.261382 0.2266 0.2381 0.415 0.0998 0.4305 0.24 0.27 0.4 0.1 0.2822 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043048 NA NA 0.232442 0.13754 NA 0.261 NA 3.258758 1326 6 144806691 144806691 C T intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA NA NA NA rs9496982 0.32 0.32 0.364 0.362819 0.2316 0.1429 0.219 0.7254 0.3364 0.22 0.15 0.24 0.73 0.2753 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466711 NA NA 0.234419 0.657286 NA 0.37 NA 3.258681 1326 12 104373600 104373600 G A intronic TDG NA NA NA intronic ENSG00000139372 NA NA NA NA NA 12q23.3 NA NA NA NA rs3751209 0.32 0.32 0.292 0.337061 0.2207 0.5159 0.1931 0.3132 0.407 0.22 0.51 0.21 0.34 0.2883 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.171363 2.171363 NA 0.232417 0.289234 ID=COSM147594;OCCURENCE=1(stomach) 0.29 NA 3.258583 1326 15 42850380 42850380 A G intronic HAUS2 NA NA NA intronic ENSG00000137814 NA NA NA NA NA 15q15.2 NA NA NA NA rs3986280 0.24 0.24 0.275 0.263578 0.2276 0.0079 0.2075 0.5817 0.1738 0.22 0.0035 0.22 0.55 0.2634 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520222 1.520222 NA 0.250523 0.503404 NA 0.275 NA 3.258477 1326 17 79227092 79227092 G A intronic SLC38A10 NA NA NA intronic ENSG00000157637 NA NA NA NA NA 17q25.3 NA NA NA NA rs9910167 0.23 0.23 0.214 0.217053 0.2734 0.004 0.245 0.4327 0.0675 0.27 0.0035 0.25 0.42 0.2267 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562591 NA NA 0.241439 0.426471 NA 0.225 NA 3.258461 1326 1 11128001 11128001 A G intronic EXOSC10 NA NA NA intronic ENSG00000171824 NA NA NA NA NA 1p36.22 NA NA NA NA rs2791657 0.65 0.65 0.62 0.607228 0.7416 0.7897 0.755 0.2035 0.7219 0.75 0.81 0.75 0.23 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696988 NA NA NA NA NA 0.609 NA 3.2584 1326 1 26879792 26879792 T C intronic RPS6KA1 NA NA NA intronic ENSG00000117676 NA NA NA NA NA 1p36.11 NA NA NA NA rs4970489 0.72 0.72 0.729 0.722843 0.7416 0.7847 0.6326 0.7269 0.6984 0.74 0.77 0.64 0.69 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0777 NA NA NA NA NA 0.659 NA 3.2584 1326 1 159163119 159163119 C T intronic CADM3 NA NA NA intronic ENSG00000162706 NA NA NA NA NA 1q23.2 NA NA NA NA rs862990 0.84 0.84 0.866 0.835463 0.7416 0.9286 0.7233 0.9259 0.7935 0.75 0.94 0.7 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055638 NA NA NA NA NA 0.775 NA 3.2584 1326 4 74447452 74447452 C T intronic RASSF6 NA NA NA intronic ENSG00000169435 NA NA NA NA NA 4q13.3 NA NA NA NA rs1247670 0.75 0.75 0.752 0.758586 0.7416 0.8968 0.5533 0.7194 0.8323 0.74 0.89 0.62 0.7 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021185 NA NA NA NA NA 0.696 NA 3.2584 1326 6 47749728 47749728 T G upstream OPN5 NA NA NA UTR5 ENSG00000124818 ENST00000489301:c.-75T>G NA NA NA NA 6p12.3 NA NA NA NA rs7741473 0.81 0.81 0.799 0.799521 0.7416 0.9286 0.8314 0.7549 0.7638 0.76 0.94 0.82 0.74 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924289 NA NA NA NA NA 0.79 NA 3.2584 1326 8 134107223 134107223 A G intronic SLA,TG NA NA NA intronic ENSG00000042832,ENSG00000155926 NA NA NA NA NA 8q24.22 NA NA NA NA rs2272706 0.67 0.67 0.675 0.644369 0.7416 0.4206 0.6527 0.8101 0.545 0.75 0.41 0.69 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174761 NA NA NA NA NA 0.688 NA 3.2584 1326 9 101539601 101539601 G A intronic ANKS6 NA NA NA intronic ENSG00000165138 NA NA NA NA NA 9q22.33 NA NA NA NA rs4742741 0.62 0.62 0.617 0.622804 0.7416 0.3849 0.6023 0.7579 0.5777 0.72 0.35 0.61 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.242961 2.242961 NA NA NA NA 0.688 NA 3.2584 1326 10 49440346 49440346 C T intronic FRMPD2 NA NA NA intronic ENSG00000170324 NA NA NA NA NA 10q11.22 NA NA NA NA rs6537556 0.28 0.28 0.285 0.282947 0.2505 0.0764 0.183 0.6059 0.1636 0.25 0.06 0.2 0.62 0.2765 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229431 NA NA 0.215233 0.548138 NA 0.319 NA 3.257767 1326 1 233490764 233490764 G T intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA NA NA rs4649219 0.31 0.31 0.291 0.332069 0.2396 0.3373 0.3963 0.3752 0.318 0.23 0.32 0.35 0.39 0.275 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417803 NA NA 0.227791 0.341807 ID=COSM146825;OCCURENCE=1(stomach) 0.319 NA 3.257609 1326 10 124034703 124034703 T C intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA NA NA rs7080859 0.49 0.49 0.493 0.483027 0.3748 0.624 0.4726 0.556 0.3579 0.38 0.64 0.47 0.51 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604167 NA NA 0.367693 0.559971 NA 0.399 NA 3.257507 1326 8 125155303 125155303 G A intergenic FER1L6,TMEM65 dist=23001;dist=167856 NA NA ncRNA_exonic ENSG00000250727 NA NA NA NA NA 8q24.13 NA NA NA NA rs7010103 0.58 0.58 0.556 0.550319 0.7425 0.3839 0.5101 0.5189 0.5951 0.74 0.42 0.57 0.51 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.330586 NA NA NA NA NA 0.652 NA 3.2575 1326 7 56569906 56569906 C T intergenic DKFZp434L192,LOC100130849 dist=4929;dist=373172 NA NA downstream ENSG00000231504 NA NA NA NA NA 7p11.2 NA NA NA NA rs62461260 0.13 0.13 0.12 0.11861 0.2425 0.0367 0.1715 0.0129 0.181 0.22 0.04 0.2 0.02 NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157968 NA NA NA NA NA 0.188 NA 3.2575 1326 8 91094086 91094086 A C intronic CALB1 NA NA NA intronic ENSG00000104327 NA NA NA NA NA 8q21.3 NA NA NA NA rs7815279 0.71 0.71 0.74 0.709864 0.7425 0.5933 0.6787 0.7988 0.6984 0.74 0.61 0.72 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372875 NA NA NA NA NA 0.696 NA 3.2575 1326 13 30071310 30071310 G T intronic MTUS2 NA NA NA intronic ENSG00000132938 NA NA NA NA NA 13q12.3 NA NA NA NA rs2258198 0.53 0.53 0.51 0.496206 0.7425 0.1865 0.5677 0.4992 0.5072 0.73 0.2 0.63 0.53 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277474 NA NA NA NA NA 0.543 NA 3.2575 1326 15 52553453 52553453 C G intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA NA NA rs12903919 NA NA 0.36 0.338658 0.7425 0.0258 0.5533 0.1006 0.4151 NA NA NA NA NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.150209 NA NA NA NA NA 0.442 NA 3.2575 1326 13 113889355 113889355 A G intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs2287249 0.24 0.24 0.221 0.271765 0.2346 0.3393 0.3285 0.0809 0.4581 0.25 0.32 0.31 0.09 0.2766 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072376 NA NA 0.231395 0.107127 NA 0.217 NA 3.257405 1326 12 42707437 42707437 C G intronic ZCRB1 NA NA NA intronic ENSG00000134283,ENSG00000139168 NA NA NA NA NA 12q12 NA NA NA NA rs3761677 0.28 0.28 0.24 0.234824 0.3648 0.1776 0.3588 0.121 0.226 0.37 0.19 0.41 0.13 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111738 NA NA 0.378064 0.145954 ID=COSN164218;OCCURENCE=1(NS) 0.225 NA 3.257136 1326 8 125155649 125155649 C G intergenic FER1L6,TMEM65 dist=23347;dist=167510 NA NA ncRNA_exonic ENSG00000250727 NA NA NA NA NA 8q24.13 NA NA NA NA rs4380915 0.6 0.6 0.596 0.577276 0.7435 0.3839 0.5216 0.6142 0.5951 0.74 0.42 0.58 0.59 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457076 NA NA NA NA NA 0.688 NA 3.2565 1326 9 137019511 137019511 T C intronic WDR5 NA NA NA intronic ENSG00000196363 NA NA NA NA NA 9q34.2 NA NA NA NA rs28703244 0.64 0.64 0.64 0.611022 0.7435 0.5625 0.7017 0.5446 0.5501 0.74 0.59 0.69 0.52 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231942 NA NA NA NA NA 0.652 NA 3.2565 1326 11 20959533 20959533 G A intronic NELL1 NA NA NA intronic ENSG00000165973 NA NA NA NA NA 11p15.1 NA NA NA NA rs1880085 0.58 0.58 0.53 0.563698 0.7435 0.5595 0.6974 0.2511 0.7106 0.74 0.58 0.68 0.26 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378176 NA NA NA NA NA 0.616 NA 3.2565 1326 15 40557268 40557268 C A intronic PAK6 NA NA NA intronic ENSG00000137843,ENSG00000259288 NA NA NA NA NA 15q15.1 NA NA NA NA rs936216 0.71 0.71 0.701 0.660942 0.7435 0.8075 0.6095 0.5386 0.6268 0.75 0.81 0.63 0.57 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.816702 2.816702 NA NA NA NA 0.58 NA 3.2565 1326 3 64589851 64589851 A G intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs9985304 0.46 0.46 0.463 0.494609 0.3857 0.5685 0.3689 0.5333 0.5675 0.38 0.55 0.38 0.52 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678569 NA NA 0.358112 0.523402 NA 0.486 NA 3.256188 1326 5 176813404 176813404 C T intronic SLC34A1 NA NA NA intronic ENSG00000131183 NA NA NA NA NA 5q35.3 NA NA NA NA rs3812036 0.19 0.19 0.174 0.174321 0.2644 0.1488 0.2392 0.0514 0.228 0.26 0.17 0.26 0.05 0.2274 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941561 NA NA 0.252209 0.074217 NA 0.217 NA 3.255991 1326 7 150645682 150645682 G A intronic KCNH2 NA NA NA intronic ENSG00000055118 NA NA NA NA NA 7q36.1 NA NA Name=3 NA rs2968860 0.7 0.7 0.722 0.709465 0.5606 0.878 0.611 0.7625 0.6871 0.55 0.87 0.65 0.77 0.6225 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162943 NA NA 0.561047 0.725601 NA 0.616 NA 3.255853 1326 12 18747528 18747528 C T intronic PIK3C2G NA NA NA intronic ENSG00000139144 NA NA NA NA NA 12p12.3 NA NA NA NA rs11044211 0.31 0.31 0.331 0.328075 0.2425 0.1925 0.2738 0.5908 0.2393 0.23 0.22 0.27 0.57 0.264 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561172 NA NA 0.237651 0.532906 NA 0.493 NA 3.255849 1326 10 106675585 106675585 C T intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs6584635 0.3 0.3 0.31 0.310304 0.2445 0.1538 0.2421 0.618 0.1718 0.24 0.13 0.26 0.62 0.2514 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506656 NA NA 0.248372 0.535179 ID=COSM147039;OCCURENCE=1(stomach) 0.246 NA 3.255728 1326 1 207500293 207500293 C T intronic CD55 NA NA NA intronic ENSG00000196352 NA NA NA NA NA 1q32.2 NA NA NA NA rs4844591 0.65 0.65 0.64 0.621406 0.7445 0.4107 0.7032 0.6959 0.5532 0.74 0.47 0.69 0.67 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153777 NA NA NA NA NA 0.761 NA 3.2555 1326 4 99408106 99408106 T C intronic TSPAN5 NA NA NA intronic ENSG00000168785 NA NA NA NA NA 4q23 NA NA NA NA rs6838913 0.74 0.74 0.73 0.771765 0.7445 0.5982 0.8444 0.8222 0.8589 0.74 0.62 0.81 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086758 NA NA NA NA NA 0.775 NA 3.2555 1326 4 165577453 165577453 G A ncRNA_intronic MIR5684 NA NA NA intergenic ENSG00000223037,ENSG00000248162 dist=35464;dist=69009 NA NA NA NA 4q32.3 NA NA NA NA rs6536833 0.66 0.66 0.663 0.653954 0.7445 0.4117 0.7622 0.6831 0.6943 0.74 0.41 0.75 0.74 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916909 NA NA NA NA NA 0.761 NA 3.2555 1326 6 27368031 27368031 T C intronic ZNF391 NA NA NA intronic ENSG00000124613 NA NA NA NA NA 6p22.1 NA NA NA NA rs766092 0.68 0.68 0.693 0.685903 0.7445 0.5813 0.7277 0.6679 0.728 0.74 0.56 0.7 0.7 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129676 NA NA NA NA NA 0.71 NA 3.2555 1326 10 43601749 43601749 T C intronic RET NA NA NA intronic ENSG00000165731 NA NA NA NA NA 10q11.21 NA NA NA NA rs2742243 0.72 0.72 0.73 0.728435 0.7445 0.5198 0.7435 0.8949 0.6912 0.73 0.54 0.79 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083491 NA NA NA NA NA 0.797 NA 3.2555 1326 10 43604390 43604390 A T intronic RET NA NA NA intronic ENSG00000165731 NA NA NA NA NA 10q11.21 NA NA NA NA rs1864404 0.74 0.74 0.741 0.751997 0.7445 0.5198 0.7536 0.9788 0.6912 0.73 0.54 0.8 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254161 NA NA NA NA NA 0.804 NA 3.2555 1326 17 3660864 3660864 G A intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA NA NA NA rs170213 0.58 0.58 0.592 0.555911 0.7445 0.2411 0.5173 0.7685 0.4264 0.74 0.22 0.57 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279201 NA NA NA NA NA 0.558 NA 3.2555 1327 11 9370624 9370624 G A intergenic TMEM41B,IPO7 dist=34309;dist=35545 NA NA intergenic ENSG00000166471,ENSG00000205339 dist=34297;dist=35545 NA NA NA NA 11p15.4 NA NA NA NA rs7950295 0.11 0.11 0.107 0.109225 0.0785 0.1498 0.1455 0.1203 0.0583 0.08 0.16 0.13 0.09 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019224 NA NA NA NA NA 0.087 NA 3.2548334 1327 2 231739564 231739564 A G intronic ITM2C NA NA NA intronic ENSG00000135916 NA NA NA NA NA 2q37.1 NA NA NA NA rs1561324 0.85 0.85 0.86 0.872604 0.7455 0.9435 0.8588 0.9228 0.8722 0.75 0.94 0.85 0.91 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648805 NA NA NA NA NA 0.819 NA 3.2545 1327 14 107108221 107108221 G A intergenic LINC00221,NONE dist=156692;dist=NONE NA NA downstream ENSG00000253936 NA NA NA NA NA 14q32.33 NA NA NA NA rs8008646 0.33 0.33 0.296 0.389776 0.2455 0.3393 0.2997 0.4425 0.5828 0.24 0.35 0.31 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587515 NA NA NA NA NA 0.319 NA 3.2545 1327 15 48736684 48736684 A T intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA NA NA rs2303502 0.63 0.63 0.59 0.620807 0.7455 0.5982 0.7233 0.4002 0.7413 0.75 0.58 0.77 0.41 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502183 NA NA NA NA NA 0.667 NA 3.2545 1327 15 64418221 64418221 C G intronic SNX1 NA NA NA intronic ENSG00000028528 NA NA NA NA NA 15q22.31 NA NA NA NA rs2290119 0.6 0.6 0.55 0.477037 0.7455 0.8155 0.5965 0.0666 0.3221 0.76 0.81 0.62 0.09 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482154 NA NA NA NA NA 0.486 NA 3.2545 1327 21 19190427 19190427 C T intronic C21orf91 NA NA NA intronic ENSG00000154642 NA NA NA NA NA 21q21.1 NA NA NA NA rs243556 0.87 0.87 0.875 0.876797 0.7455 0.9395 0.8473 0.9887 0.817 0.75 0.95 0.83 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077669 NA NA NA NA NA 0.935 NA 3.2545 1327 6 29857504 29857504 G A ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs28628412 0.67 0.67 0.608 0.672923 0.7217 0.5486 0.7464 0.7156 0.6411 0.69 0.52 0.69 0.78 0.6909 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917648 NA NA NA NA NA NA NA 3.2540666 1327 11 119043745 119043745 C T intronic NLRX1 NA NA NA intronic ENSG00000160703 NA NA NA NA NA 11q23.3 NA NA NA NA rs561830 0.3 0.3 0.322 0.263978 0.2505 0.3889 0.2118 0.3033 0.1329 0.25 0.43 0.23 0.28 0.2425 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77348 NA NA 0.253144 0.285227 NA 0.377 NA 3.253856 1327 2 160873021 160873021 G A intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs2715939 0.72 0.72 0.695 0.702476 0.7465 0.8552 0.7594 0.5983 0.6002 0.69 0.83 0.73 0.61 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.106418 NA NA NA NA NA 0.688 NA 3.2535 1327 2 160876827 160876827 A G intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs1511213 0.75 0.75 0.727 0.702476 0.7465 0.8552 0.7594 0.5991 0.5992 0.74 0.86 0.73 0.63 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.752526 1.752526 NA NA NA NA 0.717 NA 3.2535 1327 19 21838146 21838146 C T intergenic ZNF429,ZNF100 dist=117067;dist=68697 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA NA NA NA rs7351088 0.57 0.57 0.58 0.623802 0.7465 0.7202 0.7233 0.3601 0.684 0.65 0.63 0.67 0.31 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697665 NA NA NA NA NA NA NA 3.2535 1327 19 21838147 21838147 A G intergenic ZNF429,ZNF100 dist=117068;dist=68696 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA NA NA NA rs7351087 0.57 0.57 0.576 0.623802 0.7465 0.7202 0.7233 0.3601 0.684 0.65 0.63 0.67 0.31 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934295 NA NA NA NA NA NA NA 3.2535 1327 22 22922640 22922640 C G intergenic LOC648691,POM121L1P dist=13633;dist=51388 NA NA ncRNA_exonic ENSG00000253120 NA NA NA NA NA 22q11.22 NA NA NA NA rs464317 0.79 0.79 0.792 0.78095 0.7465 0.7907 0.8415 0.7753 0.771 0.75 0.8 0.81 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229253 NA NA NA NA NA 0.732 NA 3.2535 1327 8 87552426 87552426 T C intronic CPNE3 NA NA NA intronic ENSG00000085719 NA NA NA NA NA 8q21.3 NA NA NA NA rs16915389 0.18 0.18 0.16 0.164936 0.2555 0.0496 0.1383 0.211 0.1472 0.27 0.06 0.18 0.2 0.2204 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.636804 1.636804 NA 0.270761 0.243078 NA 0.159 NA 3.253339 1327 8 39694610 39694610 C T intronic ADAM2 NA NA NA intronic ENSG00000104755 NA NA NA NA NA 8p11.22 NA NA NA NA rs13255763 0.25 0.25 0.219 0.215256 0.2644 0.2391 0.1844 0.2829 0.0706 0.26 0.26 0.2 0.27 0.225 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.274786 2.274786 NA 0.257279 0.265348 NA 0.145 NA 3.253321 1327 10 132915202 132915202 A G intronic TCERG1L NA NA NA intronic ENSG00000176769 NA NA NA NA NA 10q26.3 NA NA NA NA rs2298193 0.3 0.3 0.28 0.269169 0.2416 0.4157 0.2622 0.1989 0.2464 0.23 0.48 0.28 0.19 0.2848 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653016 NA NA 0.220284 0.212892 NA 0.312 NA 3.253316 1327 6 169635010 169635010 G A intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs9406328 0.35 0.35 0.307 0.355631 0.3539 0.4772 0.3761 0.1717 0.4663 0.35 0.51 0.37 0.15 0.3684 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339145 NA NA 0.357791 0.190054 NA 0.348 NA 3.2532423 1327 7 142334648 142334648 A T intergenic LOC730441,MTRNR2L6 dist=362580;dist=39483 NA NA exonic ENSG00000211747 NA nonsynonymous SNV ENSG00000211747:ENST00000390394:exon2:c.A70T:p.R24W NA NA 7q34 NA NA NA NA rs17210 0.48 0.48 0.433 0.427117 0.5497 0.6825 0.3156 0.1596 0.4785 0.56 0.67 0.38 0.2 0.4972 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.636977 1.636977 NA 0.533245 0.1926 NA 0.399 NA 3.2531884 1327 3 158372477 158372477 C T intronic GFM1 NA NA NA intronic ENSG00000079257,ENSG00000168827 NA NA NA NA NA 3q25.32 NA NA NA NA rs62286656 0.32 0.32 0.341 0.343251 0.3847 0.1815 0.3285 0.4092 0.3885 0.39 0.16 0.31 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91174 NA NA 0.362492 0.399566 NA 0.377 NA 3.252808 1327 1 200080463 200080463 C T intronic NR5A2 NA NA NA intronic ENSG00000116833 NA NA NA NA NA 1q32.1 NA NA NA NA rs3828110 0.36 0.36 NA 0.450679 0.4324 0.2937 0.5216 0.6467 0.316 0.35 0.24 0.37 0.49 0.315 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.180082 NA NA NA NA NA 0.391 NA 3.2526 1327 2 44187829 44187829 A C intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs10190161 0.55 0.55 0.552 0.530551 0.7475 0.0446 0.5692 0.7481 0.4867 0.75 0.05 0.64 0.73 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140554 NA NA NA NA NA 0.652 NA 3.2525 1327 5 9066464 9066464 A G intronic SEMA5A NA NA NA intronic ENSG00000112902 NA NA NA NA NA 5p15.31 NA NA NA NA rs786847 0.73 0.73 0.683 0.705072 0.7475 0.9315 0.7911 0.4092 0.7669 0.75 0.93 0.79 0.43 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048074 NA NA NA NA NA 0.667 NA 3.2525 1327 6 41504126 41504126 C T intergenic NCR2,FOXP4 dist=185501;dist=10038 NA NA ncRNA_intronic ENSG00000234753 NA NA NA NA NA 6p21.1 NA NA NA NA rs2496652 0.51 0.51 0.469 0.456669 0.7475 0.3839 0.5735 0.1884 0.5123 0.76 0.41 0.59 0.18 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.224198 2.224198 NA NA NA NA 0.406 NA 3.2525 1327 14 20824415 20824415 G T intronic PARP2 NA NA NA intronic ENSG00000129484 NA NA NA NA NA 14q11.2 NA NA NA NA rs3093933 0.2 0.2 0.165 0.222244 0.2525 0.2579 0.2017 0.0545 0.3957 0.25 0.24 0.2 0.07 0.2488 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.465385 NA NA 0.246338 0.0939 NA 0.196 NA 3.252362 1327 11 28045260 28045260 A G intronic KIF18A NA NA NA intronic ENSG00000121621 NA NA NA NA NA 11p14.1 NA NA NA NA rs33937991 0.24 0.24 0.247 0.232628 0.2475 0.0774 0.1686 0.469 0.1033 0.24 0.09 0.21 0.43 0.2506 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705565 NA NA 0.249709 0.442955 NA 0.29 NA 3.252191 1327 1 228601638 228601638 T C intronic TRIM17 NA NA NA intronic ENSG00000162931 NA NA NA NA NA 1q42.13 NA NA NA NA rs472594 0.43 0.43 0.446 0.444688 0.2078 0.4365 0.3285 0.8495 0.2321 0.21 0.46 0.35 0.81 0.3184 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419844 NA NA 0.221744 0.738084 NA 0.406 NA 3.252056 1327 18 51904641 51904641 A G UTR3 C18orf54 NM_173529:c.*25A>G NA NA UTR3 ENSG00000166845 ENST00000578138:c.*25A>G,ENST00000300091:c.*25A>G,ENST00000382911:c.*25A>G,ENST00000579594:c.*25A>G NA NA Score=333;Name=lod=30 NA 18q21.2 NA NA NA NA rs3753056 0.75 0.75 0.729 0.760583 0.6809 0.7054 0.7378 0.8971 0.7311 0.7 0.72 0.72 0.89 0.7152 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317611 NA NA 0.685698 0.851339 NA 0.783 NA 3.2515354 1327 6 30154351 30154351 A G intronic TRIM26 NA NA NA intronic ENSG00000234127 NA NA NA NA NA 6p22.1 NA NA NA NA rs61285697 0.17 0.17 0.123 0.176518 0.1789 0.376 0.1037 0.0113 0.2434 0.17 0.32 0.12 0.02 0.4776 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873555 NA NA 0.092052 0.022636 NA 0.174 NA 3.251448 1327 18 51904644 51904644 G A UTR3 C18orf54 NM_173529:c.*28G>A NA NA UTR3 ENSG00000166845 ENST00000578138:c.*28G>A,ENST00000300091:c.*28G>A,ENST00000382911:c.*28G>A,ENST00000579594:c.*28G>A NA NA Score=333;Name=lod=30 NA 18q21.2 NA NA NA NA rs3753055 0.75 0.75 0.735 0.761781 0.6809 0.7054 0.7406 0.8994 0.7321 0.7 0.72 0.72 0.89 0.7153 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310544 NA NA 0.685698 0.854517 NA 0.783 NA 3.2514354 1327 1 16377108 16377108 G C intronic CLCNKB NA NA NA intronic ENSG00000184908 NA NA NA NA NA 1p36.13 NA NA NA NA rs35480349 0.16 0.16 0.122 0.16254 0.2684 0.0109 0.3314 0.0159 0.2883 0.28 0.01 0.32 0.02 0.2314 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041787 NA NA 0.248837 0.048343 NA 0.123 NA 3.251363 1327 2 219250003 219250003 G C intronic SLC11A1 NA NA NA intronic ENSG00000018280 NA NA NA NA NA 2q35 NA NA NA NA rs3731865 0.17 0.17 0.133 0.144169 0.2525 0.0972 0.2637 0.0582 0.1125 0.23 0.11 0.25 0.07 0.2283 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345926 NA NA 0.268256 0.094644 NA 0.145 NA 3.250944 1327 11 9370702 9370702 C T intergenic TMEM41B,IPO7 dist=34387;dist=35467 NA NA intergenic ENSG00000166471,ENSG00000205339 dist=34375;dist=35467 NA NA NA NA 11p15.4 NA NA NA NA rs11042304 0.14 0.14 0.131 0.153954 0.0825 0.1458 0.1614 0.2731 0.0695 0.08 0.15 0.14 0.23 NA 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.999379 1.999379 NA NA NA NA 0.145 NA 3.2508334 1327 20 18474566 18474566 C G intronic RBBP9 NA NA NA intronic ENSG00000089050 NA NA NA NA NA 20p11.23 NA NA NA NA rs17734238 0.16 0.16 0.145 0.173922 0.2555 0.0615 0.2046 0.1664 0.1943 0.25 0.05 0.21 0.14 0.2256 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065639 NA NA 0.26814 0.17113 NA 0.109 NA 3.25076 1327 14 74083846 74083846 C T UTR5 ACOT6 NM_001037162:c.-33C>T NA NA ncRNA_exonic ENSG00000258603 NA NA NA NA NA 14q24.3 NA NA NA NA rs12891009 0.46 0.46 0.441 0.458466 0.4165 0.6468 0.5447 0.2731 0.4969 0.39 0.67 0.53 0.26 0.4366 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428038 NA NA 0.396395 0.294825 NA 0.319 NA 3.250505 1327 5 149932602 149932602 C T intronic NDST1 NA NA NA intronic ENSG00000070614 NA NA NA NA NA 5q33.1 NA NA NA NA rs6893285 0.63 0.63 0.546 0.635783 0.7495 0.5188 0.7349 0.5787 0.6462 0.75 0.48 0.74 0.52 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099259 NA NA NA NA NA 0.681 NA 3.2505 1327 6 36715833 36715833 A T intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs1010790 0.73 0.73 0.786 0.702276 0.7495 0.6875 0.5735 0.7791 0.6564 0.76 0.73 0.62 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386719 NA NA NA NA NA 0.746 NA 3.2505 1327 10 18836957 18836957 C T intronic NSUN6 NA NA NA intronic ENSG00000241058 NA NA NA NA NA 10p12.31 NA NA NA NA rs4747353 0.8 0.8 0.808 0.802915 0.7495 0.9613 0.7608 0.77 0.7689 0.76 0.97 0.73 0.73 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330808 NA NA NA NA NA 0.638 NA 3.2505 1327 15 79027814 79027814 G T intergenic CHRNB4,LOC646938 dist=94227;dist=16565 NA NA ncRNA_exonic ENSG00000261303 NA NA NA NA NA 15q25.1 NA NA NA NA rs11072799 0.55 0.55 0.517 0.489617 0.7495 0.4881 0.6311 0.1891 0.5297 0.74 0.52 0.62 0.24 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.892074 NA 0.04 NA NA NA 0.63 NA 3.2505 1327 4 67142335 67142335 A G intergenic LOC100144602,CENPC1 dist=583231;dist=1195654 NA NA upstream ENSG00000221563 NA NA NA NA NA 4q13.2 NA NA NA NA rs35732546 0.37 0.37 0.379 0.384185 0.2495 0.3651 0.2032 0.6899 0.2577 0.25 0.35 0.21 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648666 NA NA NA NA NA 0.413 NA 3.2505 1327 7 36466669 36466669 T G intronic ANLN NA NA NA intronic ENSG00000011426 NA NA NA NA NA 7p14.2 NA NA NA NA rs3815485 0.28 0.28 0.196 0.274161 0.2266 0.4087 0.2522 0.1884 0.316 0.25 0.43 0.23 0.18 0.317 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758205 NA NA 0.20593 0.176577 NA 0.21 NA 3.25047 1327 14 51228655 51228655 C G intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA NA NA NA rs12883882 0.18 0.18 0.172 0.172324 0.2753 0.1567 0.2507 0.0386 0.2076 0.25 0.15 0.22 0.06 0.2226 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306671 NA NA 0.25186 0.078075 NA 0.109 NA 3.25024 1327 12 4737459 4737459 C T exonic AKAP3 NA synonymous SNV AKAP3:NM_006422:exon4:c.G609A:p.S203S exonic ENSG00000111254 NA synonymous SNV ENSG00000111254:ENST00000228850:exon4:c.G609A:p.S203S,ENSG00000111254:ENST00000545990:exon5:c.G609A:p.S203S NA NA 12p13.32 NA NA NA NA rs2072356 0.73 0.73 0.722 0.707268 0.832 0.6637 0.8256 0.587 0.7025 0.84 0.64 0.81 0.61 0.7756 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.670418 NA NA 0.808953 0.599637 NA 0.783 NA 3.2501136 1327 19 51015574 51015574 G C intronic ASPDH NA NA NA intronic ENSG00000204653 NA NA NA NA NA 19q13.33 NA NA NA NA rs12976250 0.19 0.19 0.2 0.198283 0.2366 0.126 0.2291 0.171 0.2485 0.25 0.13 0.2 0.18 0.2434 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91729 NA NA 0.270295 0.188238 NA 0.203 NA 3.249705 1327 1 26899687 26899687 C A intronic RPS6KA1 NA NA NA intronic ENSG00000117676 NA NA NA NA NA 1p36.11 NA NA NA NA rs282178 0.34 0.34 0.317 0.329073 0.2286 0.4623 0.4294 0.2965 0.2679 0.24 0.47 0.41 0.28 0.2927 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027878 NA NA 0.22907 0.289378 NA 0.275 NA 3.24963 1327 12 111895203 111895203 C G intronic ATXN2 NA NA NA intronic ENSG00000204842 NA NA NA NA NA 12q24.12 NA NA NA NA rs2301622 0.54 0.54 0.541 0.535343 0.2028 0.8919 0.3184 0.7753 0.3395 0.2 0.89 0.36 0.77 0.3395 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495413 NA NA 0.20814 0.667045 NA 0.5 NA 3.24956 1327 2 128015367 128015367 C T intronic ERCC3 NA NA NA intronic ENSG00000163161 NA NA NA NA NA 2q14.3 NA NA NA NA rs4662718 0.83 0.83 0.796 0.813698 0.7505 0.999 0.8573 0.733 0.7658 0.76 1 0.86 0.72 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047598 NA NA NA NA NA 0.638 NA 3.2495 1327 2 128028792 128028792 T C intronic ERCC3 NA NA NA intronic ENSG00000163161 NA NA NA NA NA 2q14.3 NA NA NA NA rs4150499 0.84 0.84 0.807 0.819489 0.7505 0.999 0.8559 0.7557 0.7658 0.76 1 0.86 0.76 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241233 NA NA NA NA NA 0.659 NA 3.2495 1327 14 24735624 24735624 A G intronic RABGGTA NA NA NA intronic ENSG00000100949 NA NA NA NA NA 14q12 NA NA NA NA rs2877612 0.34 0.34 0.335 0.363818 0.2197 0.4435 0.4366 0.3533 0.3926 0.23 0.48 0.38 0.33 0.3003 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.048976 5.048976 NA 0.230806 0.320309 NA 0.196 NA 3.249194 1327 16 15128416 15128416 A G intronic PDXDC1 NA NA NA intronic ENSG00000179889 NA NA NA NA NA 16p13.11 NA NA NA NA rs35811052 0.22 0.22 0.195 0.196086 0.2525 0.1111 0.3862 0.143 0.1626 0.27 0.11 0.37 0.14 0.2388 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178695 NA NA 0.259767 0.173873 NA 0.254 NA 3.248933 1327 11 83691458 83691458 G C intronic DLG2 NA NA NA intronic ENSG00000150672 NA NA NA NA NA 11q14.1 NA NA NA NA rs10792700 0.64 0.64 0.611 0.622804 0.7515 0.6875 0.6772 0.3699 0.727 0.73 0.68 0.68 0.4 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680018 NA NA NA NA NA 0.623 NA 3.2485 1327 7 538277 538277 G C intronic PDGFA NA NA NA intronic ENSG00000197461 NA NA NA NA NA 7p22.3 NA NA NA NA rs34223855 0.29 0.29 0.253 0.307308 0.3827 0.3036 0.255 0.1694 0.4571 0.35 0.3 0.3 0.19 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996949 NA NA 0.36895 0.205925 NA 0.341 NA 3.24835 1327 10 100401745 100401745 T C intronic HPSE2 NA NA NA intronic ENSG00000172987 NA NA NA NA NA 10q24.2 NA NA NA NA rs693656 0.38 0.38 0.355 0.376997 0.2435 0.5456 0.4395 0.4259 0.2301 0.25 0.5 0.4 0.42 0.2922 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310382 NA NA 0.216163 0.406945 NA 0.268 NA 3.248137 1327 19 8032432 8032432 G A intronic ELAVL1 NA NA NA intronic ENSG00000066044 NA NA NA NA NA 19p13.2 NA NA NA NA rs3826740 0.25 0.25 0.215 0.22504 0.2286 0.4782 0.2565 0.0151 0.2219 0.24 0.46 0.27 0.02 0.2711 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060471 NA NA 0.252209 0.056968 NA 0.21 NA 3.248091 1327 5 169472765 169472765 C G intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA NA NA rs6884561 0.5 0.5 0.507 0.482827 0.3897 0.5863 0.4683 0.5537 0.3865 0.4 0.6 0.47 0.56 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694185 NA NA 0.362351 0.507948 NA 0.428 NA 3.247949 1327 6 29858256 29858256 T G ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs3128874 0.69 0.69 0.663 0.654553 0.7217 0.5308 0.7349 0.6747 0.6288 0.71 0.55 0.71 0.79 0.6974 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041676 NA NA NA NA NA 0.572 NA 3.2475666 1327 16 50733374 50733374 G T intronic NOD2 NA NA NA intronic ENSG00000167207 NA NA NA NA NA 16q12.1 NA NA NA NA rs2076753 0.14 0.14 0.132 0.115615 0.2734 0.0089 0.1671 0.0514 0.1135 0.27 0.0017 0.2 0.06 0.1982 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371538 1.371538 NA 0.280879 0.077151 NA 0.21 NA 3.247521 1327 2 98797744 98797744 C T intronic VWA3B NA NA NA intronic ENSG00000168658 NA NA NA NA NA 2q11.2 NA NA NA NA rs4851890 0.69 0.69 0.698 0.727636 0.7525 0.7262 0.6081 0.6263 0.9254 0.74 0.71 0.64 0.64 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143296 NA NA NA NA NA 0.732 NA 3.2475 1327 10 63977069 63977069 A T intronic RTKN2 NA NA NA intronic ENSG00000182010 NA NA NA NA NA 10q21.2 NA NA NA NA rs1432414 0.8 0.8 0.787 0.754193 0.7525 0.8988 0.8098 0.7557 0.5654 0.76 0.91 0.8 0.73 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229229 NA NA NA NA NA 0.667 NA 3.2475 1327 12 96263439 96263439 C A intronic CCDC38 NA NA NA intronic ENSG00000139343,ENSG00000165972 NA NA NA NA NA 12q23.1 NA NA NA NA rs10735336 0.64 0.64 0.633 0.653355 0.7525 0.3829 0.5504 0.8041 0.6994 0.77 0.34 0.61 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890728 NA NA NA NA NA 0.13 NA 3.2475 1327 19 4117705 4117705 T C intronic MAP2K2 NA NA NA intronic ENSG00000126934 NA NA NA NA NA 19p13.3 NA NA NA NA rs350890 0.81 0.81 0.793 0.795727 0.7525 0.9107 0.8098 0.7746 0.7403 0.77 0.92 0.81 0.75 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437191 NA NA NA NA ID=COSN165690;OCCURENCE=1(breast) 0.681 NA 3.2475 1327 8 82629447 82629447 G A intronic ZFAND1 NA NA NA intronic ENSG00000104231 NA NA NA NA NA 8q21.13 NA NA NA NA rs62512330 0.37 0.37 0.355 0.329473 0.2416 0.7222 0.2478 0.2239 0.2157 0.24 0.72 0.25 0.26 0.2805 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922679 NA NA 0.230473 0.243305 NA 0.254 NA 3.247427 1327 13 110862303 110862303 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs9521649 0.19 0.19 0.173 0.185104 0.2495 0.0546 0.3559 0.1505 0.1789 0.26 0.05 0.3 0.17 0.2429 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979342 NA NA 0.260233 0.167726 ID=COSM147716;OCCURENCE=1(stomach) 0.21 NA 3.247367 1327 6 169634809 169634809 C T intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs9393156 0.35 0.35 0.342 0.355032 0.3549 0.4772 0.3761 0.1687 0.4663 0.35 0.51 0.37 0.15 0.3674 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395695 NA NA 0.363837 0.193827 NA 0.355 NA 3.2471963 1327 19 2042886 2042886 A G intronic MKNK2 NA NA NA intronic ENSG00000099875 NA NA NA NA NA 19p13.3 NA NA Name=3 NA rs7253052 0.67 0.67 0.685 0.714856 0.5547 0.6806 0.6599 0.9319 0.6605 0.52 0.67 0.68 0.9 0.6456 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083814 NA NA 0.552521 0.856133 NA 0.739 NA 3.247179 1327 5 35875593 35875593 A T intronic IL7R NA NA NA exonic ENSG00000168685 NA synonymous SNV ENSG00000168685:ENST00000505875:exon1:c.A78T:p.L26L NA NA 5p13.2 NA NA NA NA rs987106 0.46 0.46 0.445 0.44988 0.5547 0.2728 0.3732 0.553 0.4397 0.57 0.26 0.43 0.54 0.5001 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442126 NA NA 0.531977 0.570813 ID=COSN167436;OCCURENCE=1(large_intestine) 0.529 NA 3.2465563 1327 3 184046355 184046355 C T intronic EIF4G1 NA NA NA intronic ENSG00000114867,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs1879244 0.78 0.78 0.814 0.778554 0.7535 0.6429 0.7968 0.9826 0.6554 0.76 0.63 0.78 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368931 NA NA NA NA NA 0.841 NA 3.2465 1327 4 143226768 143226768 G T intronic INPP4B NA NA NA intronic ENSG00000109452 NA NA NA NA NA 4q31.21 NA NA NA NA rs2627808 0.68 0.68 0.65 0.647764 0.7535 0.7113 0.7378 0.497 0.6135 0.76 0.71 0.72 0.5 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189771 NA NA NA NA NA 0.652 NA 3.2465 1327 17 78079481 78079481 C G intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs8069491 0.61 0.61 0.605 0.602436 0.7535 0.5437 0.5418 0.5212 0.6605 0.75 0.57 0.55 0.5 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645024 NA NA NA NA NA 0.645 NA 3.2465 1327 15 86227952 86227952 A G intronic AKAP13 NA NA NA intronic ENSG00000170776 NA NA NA NA NA 15q25.3 NA NA NA NA rs2306225 0.15 0.15 0.124 0.129792 0.2793 0.0188 0.2262 0.0098 0.184 0.28 0.03 0.24 0.01 0.2173 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.728016 NA NA 0.257734 0.043201 NA 0.217 NA 3.245666 1327 14 106235611 106235611 A T intergenic ELK2AP,KIAA0125 dist=96467;dist=148227 NA NA exonic ENSG00000211897 NA unknown UNKNOWN NA NA 14q32.33 NA NA NA NA rs1051112 0.46 0.46 0.368 0.493211 0.4881 0.5327 0.6124 0.2897 0.6483 0.45 0.61 0.57 0.22 0.433 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.771996 NA 1 NA NA NA NA NA 3.2455667 1327 4 69383431 69383431 C G intergenic TMPRSS11E,UGT2B17 dist=20109;dist=19472 NA NA upstream ENSG00000250566 NA NA NA NA NA 4q13.2 NA NA NA NA rs12503212 0.31 0.31 0.332 0.291933 0.2545 0.2192 0.4452 0.2526 0.3497 0.27 0.35 0.42 0.26 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952486 NA NA NA NA NA 0.145 NA 3.2455 1327 4 143226784 143226784 G A intronic INPP4B NA NA NA intronic ENSG00000109452 NA NA NA NA NA 4q31.21 NA NA NA NA rs2636640 0.68 0.68 0.642 0.65016 0.7545 0.7123 0.7378 0.4992 0.6207 0.76 0.72 0.72 0.5 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.105097 NA NA NA NA NA 0.645 NA 3.2455 1327 19 54211903 54211903 T G upstream MIR518C NA NA NA upstream ENSG00000207553 NA NA NA NA NA 19q13.42 NA NA NA NA rs7256241 0.47 0.47 0.472 0.492412 0.4215 0.4762 0.5014 0.5219 0.5358 0.42 0.44 0.5 0.57 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831751 NA NA NA NA NA 0.435 NA 3.2451666 1328 6 70878156 70878156 A G intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs62421668 0.2 0.2 0.193 0.189297 0.2684 0.1875 0.1326 0.1127 0.2536 0.27 0.21 0.15 0.13 0.2315 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425166 NA NA 0.255116 0.14049 NA 0.094 NA 3.244984 1328 8 139668032 139668032 T C intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs11166832 0.56 0.56 0.519 0.504792 0.7555 0.7302 0.5504 0.0522 0.5941 0.75 0.69 0.58 0.08 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202212 NA NA NA NA NA 0.399 NA 3.2445 1328 9 136081391 136081391 G A intronic OBP2B NA NA NA intronic ENSG00000171102 NA NA NA NA NA 9q34.2 NA NA NA NA rs6597608 0.66 0.66 0.64 0.610823 0.7555 0.5645 0.7262 0.5219 0.5481 0.75 0.55 0.75 0.55 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222632 NA NA NA NA NA 0.232 NA 3.2445 1328 22 43625225 43625225 G T intronic SCUBE1 NA NA NA intronic ENSG00000159307 NA NA NA NA NA 22q13.2 NA NA NA NA rs34045808 0.15 0.15 0.129 0.132388 0.2575 0.003 0.2709 0.0454 0.1564 0.25 0.0035 0.28 0.07 0.2253 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.661014 1.661014 NA 0.273023 0.077167 NA 0.254 NA 3.244177 1328 7 30544360 30544360 G A UTR5 GGCT NM_024051:c.-35C>T,NM_001199815:c.-35C>T,NM_001199817:c.-35C>T,NM_001199816:c.-35C>T NA NA UTR5 ENSG00000006625 ENST00000275428:c.-35C>T,ENST00000440082:c.-35C>T,ENST00000005374:c.-35C>T,ENST00000409144:c.-35C>T,ENST00000447901:c.-35C>T,ENST00000409390:c.-35C>T,ENST00000409436:c.-35C>T NA NA NA NA 7p14.3 NA Name=YY1,STAT3,E2F1,Pol2-4H8,HA-E2F1,Sin3Ak-20,AP-2alpha,TBP,AP-2gamma,HEY1,ZBTB7A_(SC-34508),c-Myc,SETDB1,Pol2(phosphoS2),Pol2,Mxi1_(bHLH),NRSF,E2F6,TAF1,E2F6_(H-50),HMGN3,E2F4,Max,NF-YB NA NA rs38414 0.62 0.62 0.622 0.61262 0.7028 0.6875 0.6239 0.4758 0.6196 0.7 0.61 0.65 0.48 0.6659 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725593 NA NA 0.720465 0.522242 NA 0.514 NA 3.2441684 1328 12 52369300 52369300 C T intronic ACVR1B NA NA NA intronic ENSG00000135503 NA NA NA NA NA 12q13.13 NA NA NA NA rs2242106 0.3 0.3 0.261 0.29353 0.2316 0.3056 0.5461 0.2254 0.2577 0.22 0.34 0.52 0.2 0.2887 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.904261 2.904261 NA 0.23593 0.222424 NA 0.254 NA 3.24377 1328 4 4896934 4896934 A G intergenic MSX1,CYTL1 dist=31274;dist=119380 NA NA upstream ENSG00000251587 NA NA NA NA NA 4p16.2 NA NA NA NA rs16836365 0.33 0.33 0.287 0.282149 0.2565 0.5298 0.3386 0.1316 0.2168 0.27 0.56 0.34 0.14 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494377 NA NA NA NA NA 0.232 NA 3.2435 1328 17 46055347 46055347 A G intronic CDK5RAP3 NA NA NA intronic ENSG00000108465 NA NA NA NA NA 17q21.32 NA NA NA NA rs2875746 0.7 0.7 0.679 0.663139 0.7565 0.7847 0.6585 0.4818 0.6902 0.77 0.78 0.72 0.47 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750399 NA NA NA NA NA 0.681 NA 3.2435 1328 1 150686633 150686633 A T intronic HORMAD1 NA NA NA intronic ENSG00000143452 NA NA NA NA NA 1q21.3 NA NA NA NA rs34593358 0.21 0.21 0.199 0.161941 0.2416 0.1885 0.2003 0.0809 0.135 0.26 0.24 0.21 0.09 0.2431 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.936972 2.936972 NA 0.272214 0.117417 ID=COSN163229;OCCURENCE=1(breast) 0.217 NA 3.243086 1328 15 45669055 45669055 C A intronic GATM NA NA NA UTR5 ENSG00000171766 ENST00000559885:c.-7435G>T NA NA NA NA 15q21.1 NA NA NA NA rs12437840 0.46 0.46 0.435 0.443091 0.2753 0.8065 0.5202 0.3154 0.3589 0.27 0.85 0.46 0.28 0.3827 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622544 NA NA 0.265589 0.27889 NA 0.304 NA 3.2430777 1328 10 106124660 106124660 G T intronic CCDC147 NA NA NA intronic ENSG00000120051 NA NA NA NA NA 10q25.1 NA NA NA NA rs12769756 0.16 0.16 0.156 0.142572 0.2674 0.0704 0.1715 0.059 0.181 0.25 0.08 0.2 0.06 0.2167 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419209 NA NA 0.273023 0.089197 NA 0.109 NA 3.242877 1328 2 91795675 91795675 A G intergenic NONE,LOC654342 dist=NONE;dist=29034 NA NA ncRNA_intronic ENSG00000233991 NA NA NA NA NA 2p11.1 NA NA NA NA rs4337515 NA NA 0.79 0.790935 0.7575 0.6786 0.7104 0.9599 0.7699 NA NA NA NA NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780546 NA NA NA NA NA 0.783 NA 3.2425 1328 13 24334215 24334215 T G intronic MIPEP NA NA NA intronic ENSG00000027001 NA NA NA NA NA 13q12.12 NA NA NA NA rs11620036 0.14 0.14 0.127 0.125399 0.2734 0.001 0.1671 0.0734 0.1421 0.26 0.0017 0.18 0.06 0.2036 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222991 NA NA 0.280581 0.106219 NA 0.087 NA 3.242419 1328 12 101491375 101491375 G A intronic ANO4 NA NA NA intronic ENSG00000151572 NA NA NA NA NA 12q23.1 NA NA NA NA rs1842888 0.46 0.46 0.466 0.497204 0.3668 0.3224 0.4813 0.7708 0.453 0.36 0.33 0.48 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.402279 1.402279 NA 0.390949 0.729769 NA 0.507 NA 3.242251 1328 6 29858218 29858218 A G ncRNA_exonic HLA-H NA NA NA ncRNA_exonic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs3115602 0.69 0.69 0.676 0.674521 0.7247 0.5476 0.7522 0.7141 0.6452 0.71 0.55 0.71 0.79 0.6999 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669691 NA NA NA NA NA 0.623 NA 3.2420666 1328 14 95110017 95110017 G T ncRNA_exonic SERPINA13P NA NA NA ncRNA_exonic ENSG00000187483 NA NA NA NA NA 14q32.13 NA NA NA NA rs1884084 0.32 0.32 0.273 0.272165 0.5119 0.2083 0.3501 0.1172 0.2454 0.51 0.21 0.35 0.11 0.4062 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065839 NA 0.2 0.506512 0.177939 ID=COSN164780;OCCURENCE=1(breast) 0.261 NA 3.2420546 1328 12 49398862 49398862 G A intronic PRKAG1 NA NA NA ncRNA_intronic ENSG00000257913 NA NA NA NA NA 12q13.12 NA NA NA NA rs2293445 0.35 0.35 0.352 0.372604 0.3489 0.4444 0.2767 0.3154 0.4683 0.35 0.41 0.28 0.31 0.3679 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.639148 NA NA 0.374884 0.32887 NA 0.326 NA 3.2416493 1328 11 6243963 6243963 G A intronic FAM160A2 NA NA NA intronic ENSG00000051009 NA NA NA NA NA 11p15.4 NA NA NA NA rs3750947 0.71 0.71 0.695 0.694888 0.7584 0.9454 0.7695 0.3147 0.8323 0.76 0.95 0.79 0.32 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.369372 NA NA NA NA NA 0.717 NA 3.2416 1328 14 107183934 107183934 T A intergenic LINC00221,NONE dist=232405;dist=NONE NA NA upstream ENSG00000254056 NA NA NA NA NA 14q32.33 NA NA NA NA rs10150044 0.32 0.32 0.288 0.373802 0.2584 0.2937 0.2767 0.4418 0.5521 0.26 0.31 0.31 0.42 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234474 NA NA NA NA NA 0.464 NA 3.2416 1328 14 107183974 107183974 G C intergenic LINC00221,NONE dist=232445;dist=NONE NA NA upstream ENSG00000254056 NA NA NA NA NA 14q32.33 NA NA NA NA rs10137980 0.32 0.32 0.298 0.374201 0.2584 0.2937 0.281 0.441 0.5521 0.26 0.31 0.31 0.42 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813673 NA NA NA NA NA 0.428 NA 3.2416 1328 17 10543183 10543183 A G intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2285471 0.5 0.5 0.485 0.466454 0.7584 0.3839 0.5346 0.2398 0.5092 0.74 0.37 0.52 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.547083 NA NA NA NA NA 0.616 NA 3.2416 1328 17 10555602 10555602 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2285463 0.5 0.5 0.496 0.46266 0.7584 0.369 0.5331 0.2375 0.5092 0.74 0.35 0.52 0.27 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243662 NA NA NA NA NA 0.609 NA 3.2416 1328 19 41383344 41383344 T C intronic CYP2A7 NA NA NA intronic ENSG00000198077,ENSG00000268797 NA NA NA NA NA 19q13.2 NA NA NA NA rs2302988 0.77 0.77 0.749 0.761382 0.7584 0.6518 0.8026 0.8313 0.7536 0.76 0.67 0.83 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801054 NA NA NA NA NA 0.804 NA 3.2416 1328 16 74662597 74662597 C T intronic RFWD3 NA NA NA intronic ENSG00000168411 NA NA NA NA NA 16q23.1 NA NA NA NA rs11149759 0.32 0.32 0.3 0.376597 0.2326 0.372 0.428 0.3396 0.5429 0.23 0.4 0.38 0.32 0.3115 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.283554 2.283554 NA 0.214884 0.313694 NA 0.319 NA 3.241016 1328 17 80402296 80402296 G A intronic C17orf62 NA NA NA UTR3 ENSG00000178927 ENST00000578913:c.*23C>T NA NA NA NA 17q25.3 NA NA NA NA rs7221125 0.48 0.48 0.44 0.45627 0.2783 0.8522 0.536 0.3548 0.3119 0.26 0.87 0.51 0.33 0.3654 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663476 NA NA 0.281977 0.344303 NA 0.348 NA 3.2409897 1328 9 35641213 35641213 G A intergenic CD72,SIT1 dist=22789;dist=8084 NA NA intergenic ENSG00000137101,ENSG00000231393 dist=21674;dist=1298 NA NA NA NA 9p13.3 NA NA NA NA rs55667103 0.04 0.04 0.034 0.0393371 0.0924 0.001 0.0476 0.0386 0.0194 0.08 NA 0.06 0.02 NA 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.818204 NA NA NA NA NA 0.072 NA 3.2409334 1328 6 29857410 29857410 T C ncRNA_intronic HLA-H NA NA NA ncRNA_intronic ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs3115606 0.68 0.68 0.671 0.674121 0.7237 0.5486 0.7493 0.7163 0.6421 0.71 0.54 0.7 0.78 0.7021 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449924 NA NA NA NA NA 0.435 NA 3.2408666 1328 15 42135988 42135988 C T exonic JMJD7-PLA2G4B,PLA2G4B NA synonymous SNV PLA2G4B:NM_001114633:exon11:c.C858T:p.D286D,JMJD7-PLA2G4B:NM_001198588:exon16:c.C1551T:p.D517D,JMJD7-PLA2G4B:NM_005090:exon16:c.C1551T:p.D517D exonic ENSG00000168970,ENSG00000243708 NA synonymous SNV ENSG00000168970:ENST00000458483:exon11:c.C858T:p.D286D,ENSG00000243708:ENST00000452633:exon12:c.C858T:p.D286D,ENSG00000168970:ENST00000342159:exon16:c.C1551T:p.D517D,ENSG00000168970:ENST00000382448:exon16:c.C1551T:p.D517D NA NA 15q15.1 NA NA NA NA rs1672466 0.77 0.77 0.737 0.755391 0.8171 0.879 0.8228 0.5756 0.7597 0.82 0.87 0.81 0.53 0.7971 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.3235 NA NA 0.81186 0.624376 NA 0.667 NA 3.2406066 1328 1 2420590 2420590 T C intronic PLCH2 NA NA NA intronic ENSG00000149527 NA NA NA NA NA 1p36.32 NA NA NA NA rs10752744 0.85 0.85 0.857 0.86881 0.7594 0.9871 0.8343 0.916 0.82 0.74 0.99 0.81 0.88 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183877 NA NA NA NA NA 0.63 NA 3.2406 1328 15 42851464 42851464 C T intronic HAUS2 NA NA NA intronic ENSG00000137814 NA NA NA NA NA 15q15.2 NA NA NA NA rs11070374 0.58 0.58 0.478 0.514776 0.7594 0.7817 0.5115 0.0401 0.6319 0.77 0.79 0.57 0.06 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353465 NA NA NA NA NA 0.507 NA 3.2406 1328 20 31294655 31294655 A G intronic COMMD7 NA NA NA intronic ENSG00000149600 NA NA NA NA NA 20q11.21 NA NA NA NA rs28548540 0.6 0.6 0.587 0.58766 0.7594 0.4841 0.4741 0.5113 0.7014 0.76 0.45 0.54 0.56 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238961 NA NA NA NA NA 0.638 NA 3.2406 1328 1 231401204 231401204 T C intronic GNPAT NA NA NA intronic ENSG00000116906 NA NA NA NA NA 1q42.2 NA NA NA NA rs6702011 0.25 0.25 0.249 0.267772 0.2306 0.2411 0.3718 0.2738 0.2515 0.24 0.21 0.31 0.25 0.2712 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23294 NA NA 0.257791 0.294371 NA 0.268 NA 3.240409 1328 2 89417346 89417346 T C intergenic MIR4436A,NONE dist=305378;dist=NONE NA NA upstream ENSG00000240382 NA NA NA NA NA 2p11.2 NA NA NA NA rs111610161 0.12 0.12 0.129 0.154752 0.0855 0.0079 0.085 0.3903 0.1084 0.08 0.01 0.06 0.38 0.093 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709161 NA NA 0.081179 0.321503 NA 0.043 NA 3.240321 1328 22 20718692 20718692 G A intergenic RIMBP3,ZNF74 dist=256906;dist=29713 NA NA intronic ENSG00000161133 NA NA NA NA NA 22q11.21 NA NA NA NA rs1807536 0.26 0.26 0.226 0.207468 0.4264 0.1587 0.2003 0.0439 0.2587 0.46 0.18 0.23 0.06 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420222 NA NA NA NA NA 0.116 NA 3.2402667 1328 1 233490776 233490776 C T intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA NA NA rs4649220 0.33 0.33 0.315 0.356829 0.2425 0.4018 0.4164 0.3752 0.3609 0.24 0.38 0.36 0.39 0.2895 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522187 NA NA 0.227791 0.341126 NA 0.333 NA 3.240209 1328 1 23419855 23419855 T C exonic LUZP1 NA synonymous SNV LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T exonic ENSG00000169641 NA synonymous SNV ENSG00000169641:ENST00000314174:exon2:c.A900G:p.T300T,ENSG00000169641:ENST00000374623:exon2:c.A900G:p.T300T,ENSG00000169641:ENST00000418342:exon3:c.A900G:p.T300T,ENSG00000169641:ENST00000302291:exon4:c.A900G:p.T300T NA NA 1p36.12 NA NA NA NA rs1983965 0.79 0.79 0.796 0.747404 0.828 0.8065 0.6225 0.8434 0.5624 0.83 0.79 0.64 0.83 0.7691 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.055617 NA NA 0.829535 0.821834 NA 0.862 NA 3.2400316 1328 8 21900757 21900757 A G intronic FGF17 NA NA NA intronic ENSG00000158815 NA NA NA NA NA 8p21.3 NA NA NA NA rs900779 0.49 0.49 0.444 0.508187 0.3996 0.6349 0.3458 0.6074 0.4703 0.41 0.62 0.35 0.58 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669737 NA NA 0.360465 0.54841 NA 0.5 NA 3.239935 1328 11 113285299 113285299 G A intronic DRD2 NA NA NA intronic ENSG00000149295 NA NA NA NA NA 11q23.2 NA NA NA NA rs2511521 0.53 0.53 0.514 0.503195 0.7604 0.4792 0.6369 0.1755 0.6115 0.74 0.46 0.66 0.2 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207314 NA NA NA NA NA 0.428 NA 3.2396 1328 17 10536184 10536184 A G intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2285478 0.51 0.51 0.492 0.469449 0.7604 0.3849 0.536 0.2466 0.5112 0.75 0.37 0.52 0.27 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994519 NA NA NA NA NA 0.616 NA 3.2396 1328 13 113907391 113907391 A G intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs9549365 0.3 0.3 0.267 0.3125 0.2346 0.5456 0.3862 0.0461 0.4601 0.24 0.53 0.36 0.08 0.2943 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371461 NA NA 0.231512 0.080118 NA 0.239 NA 3.239588 1328 15 43024063 43024063 C T intronic CDAN1 NA NA NA intronic ENSG00000140326 NA NA NA NA NA 15q15.2 NA NA NA NA rs12917018 0.4 0.4 0.45 0.461262 0.2346 0.256 0.1888 0.9554 0.4315 0.24 0.25 0.2 0.95 0.3014 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.407762 1.407762 NA 0.224552 0.819444 NA 0.435 NA 3.239448 1328 15 27890359 27890359 T C intergenic GABRG3,OCA2 dist=111986;dist=109664 NA NA intergenic ENSG00000258594,ENSG00000258853 dist=15924;dist=39285 NA NA NA NA 15q12 NA NA NA NA rs1841875 0.11 0.11 0.097 0.107428 0.0944 0.0536 0.1153 0.1974 0.0491 0.09 0.04 0.14 0.18 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190689 NA NA NA NA NA 0.167 NA 3.2389334 1328 3 156876803 156876803 T G intronic CCNL1 NA NA NA intronic ENSG00000163660 NA NA NA NA NA 3q25.31 NA NA NA NA rs6441116 0.27 0.27 0.228 0.241813 0.2584 0.3333 0.4784 0.0787 0.183 0.25 0.36 0.43 0.08 0.2586 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.889825 NA NA 0.24407 0.116205 ID=COSN167056;OCCURENCE=1(large_intestine) 0.174 NA 3.23893 1328 7 2632477 2632477 A G intronic IQCE NA NA NA intronic ENSG00000106012 NA NA NA NA NA 7p22.3 NA NA NA NA rs2917730 0.71 0.71 0.695 0.727436 0.7614 0.4643 0.7176 0.9062 0.729 0.77 0.47 0.71 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622089 NA NA NA NA NA 0.71 NA 3.2386 1328 17 78081982 78081982 G A intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs2241888 0.69 0.69 0.712 0.71246 0.7614 0.6498 0.5634 0.7126 0.8323 0.76 0.67 0.57 0.7 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495922 NA NA NA NA NA 0.725 NA 3.2386 1328 14 20846521 20846521 A T intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs2297615 0.25 0.25 0.252 0.261581 0.2475 0.1905 0.2118 0.3336 0.2873 0.25 0.2 0.2 0.32 0.2552 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.644774 NA NA 0.25907 0.329097 NA 0.261 NA 3.23823 1328 5 178567054 178567054 A G intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs2303638 0.22 0.22 0.194 0.237021 0.2505 0.3294 0.2968 0.0461 0.3436 0.25 0.33 0.26 0.04 0.2617 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.108515 NA NA 0.249884 0.079891 ID=COSN167667;OCCURENCE=1(large_intestine) 0.152 NA 3.237916 1328 9 132854482 132854482 T C intronic GPR107 NA NA NA intronic ENSG00000148358 NA NA NA NA NA 9q34.11 NA NA NA NA rs10988589 0.18 0.18 0.202 0.174321 0.2624 0.0367 0.1772 0.1989 0.1902 0.27 0.05 0.16 0.23 0.2308 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330468 NA NA 0.26907 0.201316 NA 0.232 NA 3.23773 1328 9 35100468 35100468 T C intronic STOML2 NA NA NA intronic ENSG00000165283 NA NA NA NA NA 9p13.3 NA NA NA NA rs666549 0.68 0.68 0.651 0.670527 0.7624 0.4603 0.8228 0.6286 0.7413 0.78 0.5 0.81 0.64 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154916 NA NA NA NA NA 0.768 NA 3.2376 1328 8 23160778 23160778 C G intronic LOXL2 NA NA NA intronic ENSG00000134013 NA NA NA NA NA 8p21.3 NA NA NA NA rs3765215 0.22 0.22 0.208 0.178115 0.2575 0.256 0.2305 0.0885 0.1002 0.26 0.26 0.23 0.09 0.2309 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404544 NA NA 0.274186 0.125511 NA 0.239 NA 3.237414 1328 11 2016924 2016924 A G ncRNA_exonic H19 NA NA NA ncRNA_exonic ENSG00000130600 NA NA NA NA NA 11p15.5 NA NA NA NA rs10840159 0.35 0.35 0.318 0.291334 0.5 0.3323 0.4135 0.0552 0.2669 0.52 0.33 0.41 0.07 0.4183 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914035 NA NA 0.511307 0.121143 NA 0.312 NA 3.2370596 1328 1 109737314 109737314 T C intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA NA NA rs2359242 0.74 0.74 0.7 0.715855 0.7634 0.998 0.7939 0.2912 0.8947 0.78 1 0.79 0.32 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000284 NA NA NA NA NA 0.754 NA 3.2366 1328 1 109737320 109737320 G A intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA NA NA rs2359241 0.73 0.73 0.693 0.715655 0.7634 0.998 0.7939 0.2905 0.8947 0.78 1 0.79 0.31 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399545 NA NA NA NA NA 0.754 NA 3.2366 1328 3 88368227 88368227 C A intergenic C3orf38,EPHA3 dist=161112;dist=788447 NA NA downstream ENSG00000242159 NA NA NA NA NA 3p11.1 NA NA NA NA rs57261905 0.29 0.29 0.297 0.285144 0.2634 0.3998 0.1974 0.2723 0.2689 0.26 0.39 0.23 0.26 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097982 NA NA NA NA NA 0.275 NA 3.2366 1328 20 47859015 47859015 A G intronic DDX27 NA NA NA intronic ENSG00000124201,ENSG00000124228 NA NA NA NA NA 20q13.13 NA NA NA NA rs238204 0.64 0.64 0.618 0.60004 0.7634 0.5288 0.6412 0.5053 0.6043 0.75 0.52 0.67 0.59 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240638 NA NA NA NA NA 0.616 NA 3.2366 1328 19 7166138 7166138 G A intronic INSR NA NA NA intronic ENSG00000171105 NA NA NA NA NA 19p13.2 NA NA NA NA rs3815902 0.21 0.21 0.209 0.204273 0.2843 0.2312 0.2334 0.1059 0.2065 0.29 0.18 0.23 0.09 0.2392 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165705 NA NA 0.240814 0.126419 ID=COSN165703;OCCURENCE=1(breast) 0.145 NA 3.235686 1328 20 31656837 31656837 G A intronic BPIFB3 NA NA NA intronic ENSG00000186190 NA NA NA NA NA 20q11.21 NA NA NA NA rs2424938 0.84 0.84 0.837 0.842851 0.7644 0.9742 0.8761 0.7905 0.8354 0.77 0.99 0.86 0.75 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88815 NA NA NA NA NA 0.732 NA 3.2356 1328 14 107211211 107211211 G A intergenic LINC00221,NONE dist=259682;dist=NONE NA NA exonic ENSG00000211976 NA synonymous SNV ENSG00000211976:ENST00000390636:exon2:c.C78T:p.S26S NA NA 14q32.33 NA NA NA NA rs2073668 0.45 0.45 0.456 0.506989 0.4076 0.5079 0.415 0.4902 0.6963 0.4 0.47 0.43 0.52 0.4593 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.26744 NA NA 0.397595 0.450738 NA 0.536 NA 3.235505 1328 19 19756662 19756662 T C intronic ATP13A1 NA NA NA intronic ENSG00000105726 NA NA NA NA NA 19p13.11 NA NA NA NA rs10405234 0.26 0.26 0.274 0.293331 0.2386 0.1776 0.2464 0.4561 0.2822 0.23 0.17 0.26 0.42 0.2658 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845194 NA NA 0.260233 0.44621 NA 0.29 NA 3.235367 1328 19 19431963 19431963 G T intronic MAU2 NA NA NA UTR5 ENSG00000105705 ENST00000586132:c.-4608C>A NA NA NA NA 19p13.11 NA NA Name=6 NA rs12460764 0.58 0.58 0.583 0.53135 0.673 0.6756 0.5432 0.3495 0.4744 0.68 0.67 0.56 0.33 0.6068 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.02473 4.02473 NA 0.651511 0.386846 NA 0.478 NA 3.2353557 1329 19 20166615 20166615 A C intergenic ZNF682,ZNF90 dist=16338;dist=22188 NA NA intergenic ENSG00000197124,ENSG00000269154 dist=16300;dist=6949 NA NA NA NA 19p12 NA NA NA NA rs117287817 0.04 0.04 0.04 0.0383387 0.0984 NA 0.0432 0.003 0.0603 0.1 NA 0.05 NA NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690666 NA NA NA NA NA 0.007 NA 3.2349334 1329 2 214174767 214174767 C T intronic SPAG16 NA NA NA intronic ENSG00000144451 NA NA NA NA NA 2q34 NA NA NA NA rs10498003 0.14 0.14 0.132 0.108227 0.2575 0.002 0.183 0.0582 0.0787 0.25 0.0035 0.21 0.08 0.2091 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016892 NA NA 0.298511 0.078529 NA 0.261 NA 3.234889 1329 1 24083649 24083649 T C intronic TCEB3 NA NA NA intronic ENSG00000011007 NA NA NA NA NA 1p36.11 NA NA NA NA rs2076346 0.28 0.28 0.284 0.292931 0.2575 0.5169 0.2133 0.0885 0.4315 0.25 0.55 0.19 0.09 0.2709 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088922 NA NA 0.236744 0.129596 NA 0.37 NA 3.234856 1329 17 10432638 10432638 T C intronic MYH2 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs2277651 0.45 0.45 0.437 0.449081 0.333 0.8016 0.4755 0.2262 0.4877 0.32 0.82 0.47 0.22 0.4196 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.005235 NA NA 0.346512 0.252156 NA 0.457 NA 3.2342213 1329 7 150647969 150647969 C T intronic KCNH2 NA NA NA intronic ENSG00000055118 NA NA NA NA NA 7q36.1 NA NA NA NA rs2072413 0.22 0.22 0.213 0.273762 0.2942 0.1379 0.2089 0.3828 0.2914 0.25 0.08 0.23 0.31 0.2438 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997187 NA NA 0.22814 0.314798 NA NA NA 3.23386 1329 6 7571874 7571874 G A intronic DSP NA NA NA intronic ENSG00000096696 NA NA NA NA NA 6p24.3 NA NA NA NA rs926411 0.83 0.83 0.856 0.819688 0.7664 0.8036 0.7983 0.9902 0.6759 0.75 0.84 0.78 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265769 NA NA NA NA NA 0.841 NA 3.2336 1329 8 10470915 10470915 A G intronic RP1L1 NA NA NA intronic ENSG00000183638 NA NA NA NA NA 8p23.1 NA NA NA NA rs11773913 0.58 0.58 0.552 0.525359 0.7664 0.4345 0.683 0.3797 0.456 0.77 0.45 0.66 0.38 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32261 NA NA NA NA NA 0.594 NA 3.2336 1329 14 22279576 22279576 C T intergenic OR4E2,DAD1 dist=145338;dist=754231 NA NA upstream ENSG00000211783 NA NA NA NA NA 14q11.2 NA NA NA NA rs10138170 0.17 0.17 0.15 0.136581 0.2664 0.0675 0.1441 0.0893 0.1329 0.26 0.08 0.19 0.1 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725101 NA NA NA NA NA 0.13 NA 3.2336 1329 1 57258485 57258485 A G intronic C1orf168 NA NA NA intronic ENSG00000187889 NA NA NA NA NA 1p32.2 NA NA NA NA rs1935553 0.29 0.29 0.296 0.274361 0.2525 0.3095 0.2839 0.3018 0.2168 0.25 0.33 0.28 0.31 0.2725 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189753 NA NA 0.241822 0.291515 NA 0.355 NA 3.233178 1329 19 54245706 54245706 G C upstream MIR520H NA NA NA upstream ENSG00000207861 NA NA NA NA NA 19q13.42 NA NA NA NA rs61217982 0.26 0.26 0.266 0.264177 0.2396 0.1548 0.1499 0.4516 0.2301 0.25 0.15 0.16 0.49 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.363356 NA NA 0.193903 0.413295 ID=COSN165942;OCCURENCE=1(breast) 0.37 NA 3.2331636 1329 4 76817412 76817412 G A intronic PPEF2 NA NA NA intronic ENSG00000156194 NA NA NA NA NA 4q21.1 NA NA NA NA rs11731367 0.16 0.16 0.163 0.144569 0.2823 0.0139 0.1455 0.1467 0.1339 0.28 0.02 0.17 0.14 0.2146 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176085 NA NA 0.270349 0.153427 NA 0.174 NA 3.232751 1329 6 114265587 114265587 T C intronic HDAC2 NA NA NA intronic ENSG00000196591 NA NA NA NA NA 6q21 NA NA NA NA rs13204445 0.22 0.22 0.211 0.217652 0.2614 0.2927 0.1686 0.1051 0.2822 0.25 0.31 0.19 0.1 0.2389 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697304 NA NA 0.267001 0.143675 NA 0.283 NA 3.232699 1329 2 216295312 216295312 T A intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA NA NA rs1250241 0.85 0.85 0.849 0.794928 0.7674 0.9256 0.7954 0.9017 0.544 0.78 0.95 0.81 0.88 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749645 NA NA NA NA NA 0.819 NA 3.2326 1329 12 464254 464254 T C intronic KDM5A NA NA NA intronic ENSG00000073614 NA NA NA NA NA 12p13.33 NA NA NA NA rs3759371 0.65 0.65 0.656 0.647963 0.7674 0.4931 0.6801 0.6687 0.6339 0.76 0.5 0.68 0.64 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.467156 1.467156 NA NA NA NA 0.717 NA 3.2326 1329 11 118852137 118852137 C T downstream FOXR1 NA NA NA downstream ENSG00000176302 NA NA NA NA NA 11q23.3 NA NA NA NA rs4936451 0.35 0.35 0.336 0.367412 0.4344 0.1171 0.5908 0.3533 0.4172 0.42 0.11 0.56 0.39 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202903 NA NA NA NA NA 0.42 NA 3.2322666 1329 17 33687416 33687416 C T intronic SLFN11 NA NA NA intronic ENSG00000172716 NA NA NA NA NA 17q12 NA NA NA NA rs938298 0.42 0.42 0.423 0.455671 0.2256 0.4812 0.4179 0.6846 0.3834 0.23 0.47 0.38 0.68 0.3218 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601021 NA NA 0.220465 0.593055 NA 0.399 NA 3.232135 1329 21 47417415 47417415 C A intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs2276254 0.63 0.63 0.671 0.610024 0.6044 0.7639 0.6686 0.4955 0.5706 0.6 0.77 0.66 0.5 0.5994 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25547 NA NA 0.564201 0.499773 NA 0.551 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079752.1;CLNDSDB=.;CLNDSDBID=. 3.231999 1329 18 4691592 4691592 C T intergenic DLGAP1,C18orf42 dist=236326;dist=452080 NA NA intergenic ENSG00000265545,ENSG00000266268 dist=232134;dist=83461 NA NA NA NA 18p11.31 NA NA NA NA rs4433903 0.09 0.09 0.072 0.0840655 0.1014 0.1062 0.0476 0.0779 0.0777 0.1 0.1 0.05 0.07 NA 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292889 NA NA NA NA NA 0.058 NA 3.2319334 1329 1 115161140 115161140 C T intronic DENND2C NA NA NA intronic ENSG00000175984 NA NA NA NA NA 1p13.2 NA NA NA NA rs12145066 0.13 0.13 0.125 0.114816 0.2883 0.002 0.1455 0.0182 0.1616 0.29 NA 0.18 0.02 0.2033 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414623 NA NA 0.276497 0.062216 NA 0.167 NA 3.231903 1329 1 228407010 228407010 C T intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs1757158 0.3 0.3 0.281 0.285343 0.3579 0.1756 0.3545 0.3427 0.1973 0.36 0.17 0.38 0.3 0.4103 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12418 NA NA NA NA NA 0.348 NA 3.2318 1329 2 24276736 24276736 T C intronic FKBP1B NA NA NA intronic ENSG00000119782,ENSG00000205639 NA NA NA NA NA 2p23.3 NA NA NA NA rs11125393 0.23 0.23 0.228 0.252396 0.2475 0.0456 0.1744 0.4455 0.2648 0.25 0.04 0.21 0.44 0.2482 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369967 NA NA 0.272674 0.438039 NA 0.261 NA 3.231626 1329 2 128757804 128757804 C T intronic SAP130 NA NA NA intronic ENSG00000136715 NA NA NA NA NA 2q14.3 NA NA NA NA rs10928793 0.8 0.8 0.795 0.776158 0.7684 0.8532 0.7997 0.7587 0.7117 0.78 0.85 0.8 0.76 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032188 NA NA NA NA NA 0.645 NA 3.2316 1329 10 135352168 135352168 T C intronic CYP2E1 NA NA NA intronic ENSG00000130649,ENSG00000203772 NA NA NA NA NA 10q26.3 NA NA NA NA rs2249695 0.6 0.6 0.538 0.554513 0.7684 0.5575 0.745 0.2398 0.6217 0.77 0.57 0.73 0.27 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334975 NA NA NA NA NA 0.543 NA 3.2316 1329 21 45825975 45825975 G A intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs1614122 0.71 0.71 0.688 0.679712 0.7684 0.7649 0.7392 0.5461 0.6391 0.76 0.76 0.75 0.55 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597171 NA NA NA NA NA 0.551 NA 3.2316 1329 7 131815220 131815220 G A UTR3 PLXNA4 NM_020911:c.*18C>T NA NA UTR3 ENSG00000221866 ENST00000321063:c.*18C>T,ENST00000359827:c.*18C>T NA NA NA NA 7q32.3 Score=788;Name=V$SRF_C NA NA NA rs10954360 0.6 0.6 0.546 0.534944 0.7177 0.8323 0.5548 0.0832 0.637 0.73 0.83 0.62 0.1 0.6649 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456513 NA NA 0.719524 0.207182 NA 0.543 NA 3.2312094 1329 11 280673 280673 C T exonic NLRP6 NA synonymous SNV NLRP6:NM_001276700:exon4:c.C939T:p.S313S,NLRP6:NM_138329:exon4:c.C939T:p.S313S exonic ENSG00000174885 NA synonymous SNV ENSG00000174885:ENST00000312165:exon4:c.C939T:p.S313S,ENSG00000174885:ENST00000534750:exon4:c.C939T:p.S313S NA NA 11p15.5 NA NA NA NA rs12807092 0.52 0.52 0.521 0.48742 0.8032 0.2579 0.7363 0.2209 0.5828 0.81 0.24 0.73 0.25 0.7741 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384213 NA NA 0.858228 0.527817 NA 0.043 NA 3.2311386 1329 1 11134157 11134157 T G intronic EXOSC10 NA NA NA intronic ENSG00000171824 NA NA NA NA NA 1p36.22 NA NA NA NA rs2748876 0.76 0.76 0.724 0.761981 0.7694 0.9415 0.8415 0.4977 0.8701 0.77 0.93 0.84 0.5 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659905 NA NA NA NA NA 0.768 NA 3.2306 1329 1 89520636 89520636 G A intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs10922555 0.7 0.7 0.655 0.717053 0.7694 0.5585 0.6153 0.789 0.8016 0.77 0.54 0.68 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317889 NA NA NA NA NA 0.717 NA 3.2306 1329 1 89520643 89520643 C T intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs10922556 0.69 0.69 0.69 0.717053 0.7694 0.5585 0.6153 0.789 0.8016 0.76 0.54 0.68 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691993 NA NA NA NA NA 0.717 NA 3.2306 1329 1 247597258 247597258 G C intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA NA NA NA rs10802498 0.63 0.63 0.694 0.735423 0.7694 0.9881 0.7233 0.5 0.7669 0.64 0.71 0.64 0.52 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179765 NA NA NA NA NA 0.029 NA 3.2306 1329 3 194349027 194349027 A G intronic TMEM44 NA NA NA intronic ENSG00000145014 NA NA NA NA NA 3q29 NA NA NA NA rs1318216 0.65 0.65 0.636 0.626997 0.7694 0.5685 0.5807 0.5779 0.6401 0.77 0.56 0.63 0.59 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088671 NA NA NA NA NA 0.667 NA 3.2306 1329 11 6016310 6016310 C T intergenic OR52L1,OR56A4 dist=8095;dist=6971 NA NA upstream ENSG00000254831 NA NA NA NA NA 11p15.4 NA NA NA NA rs11603617 0.16 0.16 0.172 0.161941 0.2694 0.0794 0.1931 0.0598 0.2526 0.27 0.08 0.19 0.07 NA 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792541 NA NA NA NA NA 0.101 NA 3.2306 1329 17 25969440 25969440 A G intronic LGALS9 NA NA NA intronic ENSG00000168961 NA NA NA NA NA 17q11.2 NA NA NA NA rs3094268 0.86 0.86 0.848 0.917532 0.7694 0.9732 0.8703 0.9879 0.9509 0.74 0.94 0.85 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245054 NA NA NA NA NA 0.899 NA 3.2306 1329 21 45834025 45834025 T C intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs915779 0.72 0.72 0.7 0.689896 0.7694 0.7629 0.7435 0.5825 0.6401 0.77 0.76 0.76 0.59 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649468 NA NA NA NA NA 0.355 NA 3.2306 1329 14 71050892 71050892 A G downstream MED6 NA NA NA UTR3 ENSG00000133997 ENST00000256379:c.*638T>C,ENST00000430055:c.*638T>C NA NA NA NA 14q24.2 NA NA NA NA rs11158867 0.44 0.44 0.498 0.44389 0.2485 0.5645 0.2594 0.7126 0.2883 0.24 0.56 0.28 0.73 0.293 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01798 NA NA 0.228255 0.631157 NA 0.478 NA 3.230245 1329 19 45774680 45774680 A G intronic MARK4 NA NA NA intronic ENSG00000007047 NA NA NA NA NA 19q13.32 NA NA NA NA rs12984234 0.18 0.18 0.146 0.145966 0.2674 0.1012 0.1484 0.087 0.1452 0.28 0.1 0.2 0.08 0.2171 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613331 NA NA 0.285349 0.125511 NA 0.094 NA 3.230151 1329 3 156983273 156983273 A G intronic VEPH1 NA NA NA ncRNA_intronic ENSG00000243176 NA NA NA NA NA 3q25.31 NA NA NA NA rs3749214 0.48 0.48 0.453 0.463658 0.3549 0.5476 0.6196 0.4554 0.3896 0.34 0.59 0.57 0.49 0.4141 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474272 1.474272 NA 0.334186 0.431911 NA 0.37 NA 3.2301473 1329 1 94549083 94549083 T C intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs574741 0.78 0.78 0.776 0.745407 0.7704 0.8651 0.7939 0.6422 0.7014 0.76 0.86 0.79 0.69 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.580195 3.580195 NA NA NA NA 0.732 NA 3.2296 1329 15 63351687 63351687 A G intronic TPM1 NA NA NA intronic ENSG00000140416 NA NA NA NA NA 15q22.2 NA NA NA NA rs4775614 0.83 0.83 0.823 0.861422 0.7704 0.996 0.8646 0.8124 0.8804 0.77 1 0.84 0.75 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486025 NA NA NA NA NA 0.768 NA 3.2296 1329 16 10631985 10631985 T C intronic EMP2 NA NA NA intronic ENSG00000213853 NA NA NA NA NA 16p13.13 NA NA NA NA rs1504884 0.81 0.81 0.793 0.823482 0.7704 0.8313 0.7882 0.8555 0.8517 0.78 0.82 0.75 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508371 NA NA NA NA NA 0.768 NA 3.2296 1329 21 46066319 46066319 A T intronic TSPEAR NA NA NA intronic ENSG00000175894 NA NA NA NA NA 21q22.3 NA NA NA NA rs2329837 0.77 0.77 0.761 0.783946 0.7704 0.6558 0.7507 0.9213 0.7679 0.77 0.63 0.78 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4267 NA NA NA NA NA 0.536 NA 3.2296 1329 9 133510021 133510021 T C intronic FUBP3 NA NA NA intronic ENSG00000107164 NA NA NA NA NA 9q34.12 NA NA NA NA rs2304808 0.38 0.38 0.364 0.418331 0.2197 0.3363 0.3314 0.7095 0.3753 0.21 0.4 0.3 0.67 0.3207 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067601 NA NA 0.23013 0.61999 NA 0.384 NA 3.22947 1329 8 120940867 120940867 G A intronic DEPTOR NA NA NA intronic ENSG00000155792 NA NA NA NA NA 8q24.12 NA NA NA NA rs28461628 0.21 0.21 0.206 0.249002 0.2416 0.0367 0.1873 0.3797 0.3425 0.24 0.02 0.22 0.38 0.2653 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748207 NA NA 0.263837 0.359737 NA 0.399 NA 3.229263 1329 7 150647970 150647970 C G intronic KCNH2 NA NA NA intronic ENSG00000055118 NA NA NA NA NA 7q36.1 NA NA NA NA rs2072412 0.22 0.22 0.213 0.273762 0.2942 0.1379 0.2089 0.3828 0.2914 0.25 0.08 0.23 0.31 0.2443 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996544 NA NA 0.232442 0.31616 NA NA NA 3.229058 1329 5 44164087 44164087 G A intergenic NNT,FGF10 dist=458419;dist=141010 NA NA intergenic ENSG00000212561,ENSG00000070193 dist=97254;dist=139559 NA NA NA NA 5p12 NA NA NA NA rs4866874 0.12 0.12 0.093 0.0884585 0.1044 0.1915 0.1787 0.0068 0.0123 0.11 0.2 0.17 0.01 NA 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.139767 NA NA NA NA NA 0.196 NA 3.2289334 1329 2 37292890 37292890 T G intronic HEATR5B NA NA NA intronic ENSG00000008869 NA NA NA NA NA 2p22.2 NA NA NA NA rs11903252 0.26 0.26 0.214 0.281949 0.2435 0.3313 0.4049 0.1256 0.3947 0.25 0.31 0.4 0.11 0.2848 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863879 NA NA 0.242791 0.139582 NA 0.333 NA 3.228909 1329 2 29136653 29136653 T C intronic WDR43 NA NA NA intronic ENSG00000163811 NA NA NA NA NA 2p23.2 NA NA NA NA rs4666134 0.39 0.39 0.349 0.370208 0.2237 0.7907 0.4524 0.171 0.2986 0.23 0.78 0.41 0.19 0.3193 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097615 NA NA 0.228277 0.197489 NA 0.355 NA 3.228723 1329 1 21805978 21805978 G A intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs4654948 0.74 0.74 0.724 0.749201 0.7714 0.8125 0.7925 0.5363 0.9182 0.77 0.78 0.82 0.57 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33668 NA NA NA NA NA 0.703 NA 3.2286 1329 1 55546895 55546895 T C intronic USP24 NA NA NA intronic ENSG00000162402 NA NA NA NA NA 1p32.3 NA NA NA NA rs683880 0.7 0.7 0.668 0.691494 0.7714 0.9196 0.8473 0.2625 0.8436 0.76 0.9 0.82 0.3 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355553 NA NA NA NA NA 0.667 NA 3.2286 1329 13 28607916 28607916 T A intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs2491222 0.63 0.63 0.587 0.570687 0.7714 0.7302 0.719 0.23 0.5552 0.78 0.7 0.7 0.24 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522264 NA NA NA NA NA 0.522 NA 3.2286 1329 13 28609991 28609991 T C intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs2491229 0.62 0.62 0.566 0.563099 0.7714 0.7351 0.7161 0.1944 0.5613 0.78 0.7 0.7 0.21 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93191 NA NA NA NA NA 0.507 NA 3.2286 1329 13 28609997 28609997 T C intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs2491230 0.62 0.62 0.571 0.563099 0.7714 0.7351 0.7161 0.1944 0.5613 0.78 0.7 0.7 0.21 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572397 NA NA NA NA NA 0.507 NA 3.2286 1329 1 202887295 202887295 G A intronic KLHL12 NA NA NA intronic ENSG00000117153 NA NA NA NA NA 1q32.1 Score=921;Name=V$AREB6_01 NA NA NA rs2275734 0.47 0.47 0.444 0.438299 0.6153 0.3085 0.5058 0.3949 0.4008 0.63 0.31 0.5 0.37 0.5435 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179263 NA NA 0.612907 0.412846 ID=COSM146736;OCCURENCE=1(stomach) 0.42 NA 3.228293 1329 10 72468584 72468584 C G intronic ADAMTS14 NA NA NA intronic ENSG00000138316 NA NA NA NA NA 10q22.1 NA NA NA NA rs117280157 0.13 0.13 0.101 0.135982 0.2664 0.004 0.1326 0.0416 0.2679 0.26 0.01 0.16 0.05 0.229 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506031 NA NA 0.27642 0.072207 NA 0.043 NA 3.22818 1329 14 106366544 106366544 G A intergenic ELK2AP,KIAA0125 dist=227400;dist=17294 NA NA upstream;downstream ENSG00000227108;ENSG00000211920 NA NA NA NA NA 14q32.33 NA NA NA NA rs112989444 0.15 0.15 0.03 0.173922 0.0706 0.2044 0.134 0.2958 0.1125 0.06 0.16 0.14 0.27 0.1212 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825031 NA NA 0.080455 0.25176 NA 0.022 NA 3.227745 1329 1 21800185 21800185 T G intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs7520015 0.74 0.74 0.716 0.749601 0.7724 0.8125 0.7925 0.5371 0.9182 0.77 0.78 0.82 0.57 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947568 NA NA NA NA NA 0.717 NA 3.2276 1329 1 21805730 21805730 A G intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs2316504 0.74 0.74 0.724 0.7498 0.7724 0.8135 0.7925 0.5371 0.9182 0.77 0.79 0.82 0.57 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340775 NA NA NA NA NA 0.725 NA 3.2276 1329 17 61729882 61729882 A G intronic MAP3K3 NA NA NA intronic ENSG00000198909 NA NA NA NA NA 17q23.3 NA NA NA NA rs8080211 0.17 0.17 0.163 0.15595 0.2624 0.0496 0.1902 0.143 0.1493 0.26 0.05 0.18 0.16 0.234 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206338 NA NA 0.276163 0.152065 ID=COSN165495;OCCURENCE=1(breast) 0.123 NA 3.227437 1329 17 3786802 3786802 T C intronic CAMKK1 NA NA NA intronic ENSG00000004660 NA NA NA NA NA 17p13.2 NA NA NA NA rs737360 0.15 0.15 0.102 0.13119 0.2724 0.002 0.2522 0.0091 0.1984 0.28 NA 0.27 0.01 0.2237 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590639 NA NA 0.276512 0.056287 NA 0.275 NA 3.227388 1329 5 167798585 167798585 C T intronic WWC1 NA NA NA intronic ENSG00000113645 NA NA NA NA NA 5q34 NA Name=ZNF263 NA NA rs2287703 0.67 0.67 0.65 0.684704 0.5805 0.7272 0.7046 0.736 0.6646 0.57 0.74 0.71 0.74 0.62 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338069 NA NA 0.572791 0.731276 NA 0.558 NA 3.226709 1329 16 84485749 84485749 C T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs12149888 0.19 0.19 0.189 0.161542 0.2684 0.0962 0.2248 0.1377 0.1063 0.26 0.11 0.21 0.16 0.2235 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285076 NA NA 0.281468 0.12212 NA 0.188 NA 3.226632 1329 20 31025163 31025163 A G UTR3 ASXL1 NM_015338:c.*22A>G NA NA UTR3 ENSG00000171456 ENST00000375687:c.*22A>G,ENST00000306058:c.*22A>G NA NA NA NA 20q11.21 NA NA NA NA rs2295764 0.41 0.41 0.369 0.39996 0.335 0.7431 0.4078 0.1649 0.4254 0.35 0.74 0.35 0.17 0.4065 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.053313 NA NA 0.365233 0.187926 NA 0.203 NA 3.2266004 1329 14 106926808 106926808 A G intergenic LINC00226,LINC00221 dist=181842;dist=11647 NA NA upstream ENSG00000232216 NA NA NA NA NA 14q32.33 NA NA NA NA rs2467908 0.27 0.27 0.261 0.301917 0.2734 0.1667 0.2291 0.4304 0.3487 0.27 0.17 0.22 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945595 NA NA NA NA NA 0.261 NA 3.2266 1329 16 74938083 74938083 A G intronic WDR59 NA NA NA intronic ENSG00000103091 NA NA NA NA NA 16q23.1 NA NA NA NA rs9930498 0.4 0.4 0.409 0.411542 0.3678 0.3413 0.2997 0.6445 0.2935 0.36 0.32 0.32 0.6 0.4057 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.332032 1.332032 NA NA NA NA 0.522 NA 3.2265 1329 5 96136525 96136525 T C intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs27528 0.25 0.25 0.249 0.270966 0.2525 0.1984 0.3833 0.2761 0.2781 0.25 0.2 0.35 0.25 0.2684 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934003 NA NA 0.253023 0.239219 NA 0.268 NA 3.226077 1329 16 70422231 70422231 C T intronic ST3GAL2 NA NA NA ncRNA_intronic ENSG00000260111 NA NA NA NA NA 16q22.1 NA NA NA NA rs4985526 0.27 0.27 0.255 0.226238 0.3976 0.3006 0.3199 0.0242 0.18 0.4 0.28 0.33 0.02 0.3286 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.775642 1.775642 NA 0.381395 0.083712 NA 0.196 NA 3.2257383 1329 16 18823192 18823192 A G intronic SMG1 NA NA NA ncRNA_intronic ENSG00000260017 NA NA NA NA NA 16p12.3 NA NA NA NA rs2291662 0.24 0.24 0.22 0.242412 0.3917 0.1091 0.2997 0.1346 0.3313 0.39 0.09 0.29 0.13 0.3254 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3618 NA NA 0.390522 0.175293 NA 0.348 NA 3.2257113 1329 3 189705542 189705542 A G intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA NA NA NA rs3114672 0.81 0.81 0.786 0.776158 0.7744 0.9306 0.7824 0.6619 0.7689 0.8 0.94 0.79 0.69 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956226 NA NA NA NA NA 0.761 NA 3.2256 1329 5 1240848 1240848 A C intronic SLC6A18 NA NA NA intronic ENSG00000164363 NA NA NA NA NA 5p15.33 NA NA NA NA rs6554684 0.68 0.68 0.715 0.696086 0.7744 0.2748 0.7017 0.9697 0.6759 0.77 0.28 0.73 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636969 NA NA NA NA NA 0.797 NA 3.2256 1329 8 57389331 57389331 G T intergenic PENK,LOC100507632 dist=30049;dist=41547 NA NA ncRNA_intronic ENSG00000254254 NA NA NA NA NA 8q12.1 NA NA NA NA rs10958482 NA NA 0.644 0.820088 0.7744 0.8909 0.7954 0.7874 0.8558 NA NA NA NA NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.164205 NA NA NA NA NA 0.319 NA 3.2256 1329 16 55847045 55847045 A G intronic CES1 NA NA NA intronic ENSG00000198848 NA NA NA NA NA 16q12.2 NA NA NA NA rs3859092 0.6 0.6 0.572 0.555711 0.7744 0.381 0.6902 0.4766 0.5225 0.79 0.38 0.72 0.49 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734169 NA NA NA NA NA 0.536 NA 3.2256 1329 1 206769047 206769047 T C intronic EIF2D NA NA NA intronic ENSG00000143486 NA NA NA NA NA 1q32.1 NA NA NA NA rs11584983 0.26 0.26 0.273 0.258586 0.2584 0.1835 0.2176 0.3396 0.2556 0.26 0.19 0.22 0.35 0.2588 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511465 NA NA 0.257209 0.306854 NA 0.29 NA 3.225591 1329 14 106091982 106091982 G A intergenic TMEM121,ELK2AP dist=95443;dist=43932 NA NA intronic ENSG00000211892 NA NA NA NA NA 14q32.33 NA NA NA NA rs10136838 0.29 0.29 0.277 0.298522 0.4414 0.5198 0.2637 0.0257 0.317 0.43 0.34 0.28 0.03 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12613 NA NA NA NA NA 0.196 NA 3.2252667 1329 1 184764067 184764067 C G UTR3 FAM129A NM_052966:c.*44G>C NA NA UTR3 ENSG00000135842 ENST00000367511:c.*44G>C NA NA NA NA 1q25.3 NA NA NA NA rs581100 0.36 0.36 0.339 0.371006 0.3459 0.5635 0.366 0.1868 0.4509 0.34 0.53 0.38 0.18 0.3847 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.566926 1.566926 NA 0.377558 0.217204 NA 0.464 NA 3.2251754 1330 1 76276353 76276353 T C intronic MSH4 NA NA NA intronic ENSG00000057468 NA NA NA NA NA 1p31.1 NA NA NA NA rs12122939 0.18 0.18 0.164 0.170527 0.2783 0.0169 0.2248 0.1543 0.2014 0.26 0.01 0.26 0.18 0.2352 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.433812 2.433812 NA 0.261772 0.172752 NA 0.225 NA 3.224728 1330 6 29524168 29524168 G T intronic UBD NA NA NA intronic ENSG00000204681,ENSG00000213886 NA NA NA NA NA 6p22.1 NA NA NA NA rs2534790 0.17 0.17 0.145 0.18111 0.2495 0.1756 0.2089 0.0287 0.3027 0.26 0.17 0.19 0.03 0.2635 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.449205 1.449205 NA 0.262274 0.066269 NA 0.123 NA 3.224726 1330 6 31350303 31350303 T G intergenic HLA-B,MICA dist=25314;dist=21068 NA NA upstream ENSG00000225851 NA NA NA NA NA 6p21.33 NA NA NA NA rs2844535 0.28 0.28 0.262 0.285543 0.2753 0.1766 0.2781 0.3661 0.3047 0.29 0.19 0.29 0.35 NA 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10697 NA NA NA NA NA 0.326 NA 3.2247 1330 17 29221227 29221227 A T intronic ATAD5 NA NA NA intronic ENSG00000176208 NA NA NA NA NA 17q11.2 NA NA NA NA rs9898911 0.88 0.88 0.908 0.889976 0.7753 0.999 0.7925 0.9425 0.8937 0.78 1 0.8 0.95 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574085 NA NA NA NA NA 0.891 NA 3.2247 1330 17 41165734 41165734 C T intronic IFI35 NA NA NA intronic ENSG00000068079 NA NA NA NA NA 17q21.31 NA NA NA NA rs443759 0.79 0.79 0.816 0.749601 0.7753 0.9177 0.7997 0.5885 0.7321 0.78 0.94 0.78 0.65 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223747 NA NA NA NA NA 0.761 NA 3.2247 1330 17 56580997 56580997 T C intronic MTMR4 NA NA NA intronic ENSG00000108389 NA NA NA NA NA 17q22 NA NA NA NA rs1860262 0.89 0.89 0.889 0.91274 0.7753 1 0.8833 0.9652 0.9141 0.79 1 0.85 0.96 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581574 NA NA NA NA NA 0.775 NA 3.2247 1330 4 47679928 47679928 T C intronic CORIN NA NA NA intronic ENSG00000145244 NA NA NA NA NA 4p12 NA NA NA NA rs2271036 0.4 0.4 0.39 0.379792 0.2525 0.6071 0.2781 0.503 0.182 0.26 0.6 0.27 0.48 0.2931 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787923 NA NA 0.229767 0.455969 NA 0.355 NA 3.224633 1330 4 38879655 38879655 C T intronic FAM114A1 NA NA NA intronic ENSG00000197712 NA NA NA NA NA 4p14 NA NA NA NA rs73236661 0.23 0.23 0.222 0.203275 0.2475 0.0863 0.2061 0.3192 0.1196 0.27 0.08 0.22 0.35 0.2553 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518696 NA NA 0.272674 0.307045 NA 0.181 NA 3.224526 1330 2 33174072 33174072 A C intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs150654 0.24 0.24 0.216 0.253594 0.3877 0.0248 0.2911 0.1823 0.4213 0.4 0.02 0.29 0.22 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111293 NA NA 0.387806 0.212428 NA 0.29 NA 3.224494 1330 4 67142620 67142620 G A intergenic LOC100144602,CENPC1 dist=583516;dist=1195369 NA NA ncRNA_exonic ENSG00000221563 NA NA NA NA NA 4q13.2 NA NA NA NA rs73239138 0.38 0.38 0.392 0.394169 0.2495 0.3651 0.2032 0.7277 0.2577 0.25 0.35 0.21 0.76 0.2869 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706932 NA NA 0.23981 0.644452 NA 0.449 NA 3.22379 1330 11 2357128 2357128 T G intergenic TSPAN32,CD81 dist=17698;dist=41419 NA NA ncRNA_intronic ENSG00000238184 NA NA NA NA NA 11p15.5 NA NA NA NA rs2173887 0.62 0.62 0.61 0.617612 0.7763 0.4544 0.7147 0.4894 0.727 0.79 0.43 0.73 0.52 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678037 NA NA NA NA NA 0.739 NA 3.2237 1330 12 101510371 101510371 T G intronic ANO4 NA NA NA intronic ENSG00000151572 NA NA NA NA NA 12q23.1 NA NA NA NA rs349661 0.74 0.74 0.766 0.734824 0.7763 0.4504 0.7781 0.9667 0.6411 0.78 0.46 0.77 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280123 NA NA NA NA NA 0.891 NA 3.2237 1330 12 123801672 123801672 T G intronic SBNO1 NA NA NA intronic ENSG00000139697 NA NA NA NA NA 12q24.31 NA NA NA NA rs10846515 0.78 0.78 0.745 0.755391 0.7763 0.998 0.7781 0.5136 0.7945 0.77 1 0.77 0.57 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843277 NA NA NA NA NA 0.674 NA 3.2237 1330 6 102134022 102134022 C G intronic GRIK2 NA NA NA intronic ENSG00000164418 NA NA NA NA NA 6q16.3 NA NA NA NA rs2786251 0.41 0.41 0.41 0.459065 0.2097 0.498 0.3934 0.7126 0.3793 0.2 0.48 0.37 0.69 0.3327 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162843 NA NA 0.233953 0.642987 NA 0.406 NA 3.223647 1330 11 1093710 1093710 C G exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon31:c.C5517G:p.P1839P exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000333592:exon1:c.C393G:p.P131P,ENSG00000198788:ENST00000441003:exon30:c.C5529G:p.P1843P NA NA 11p15.5 NA NA NA NA rs7944723 0.9 0.9 0.9 0.895767 0.8091 0.9931 0.853 0.9826 0.7975 0.82 1 0.82 0.98 0.826 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577202 NA NA 0.808112 0.957447 NA 0.457 NA 3.2234546 1330 16 8988777 8988777 C G intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA NA NA rs2304467 0.35 0.35 0.335 0.32488 0.3917 0.5655 0.3588 0.0242 0.3906 0.41 0.54 0.34 0.04 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324785 NA NA 0.385292 0.088873 NA 0.283 NA 3.223008 1330 1 168278264 168278264 G A intronic TBX19 NA NA NA intronic ENSG00000143178 NA NA NA NA NA 1q24.2 NA NA NA NA rs1883148 0.74 0.74 0.758 0.725439 0.7773 0.7183 0.6441 0.7685 0.6789 0.77 0.71 0.67 0.76 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233524 NA NA NA NA NA 0.783 NA 3.2227 1330 12 8196445 8196445 T G intronic FOXJ2 NA NA NA intronic ENSG00000065970 NA NA NA NA NA 12p13.31 NA NA NA NA rs2277414 0.58 0.58 0.555 0.566693 0.7773 0.2639 0.5965 0.5877 0.6125 0.77 0.27 0.64 0.62 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.967435 NA NA NA NA NA 0.681 NA 3.2227 1330 16 1547220 1547220 C T intronic TELO2 NA NA NA intronic ENSG00000100726 NA NA NA NA NA 16p13.3 NA NA NA NA rs2235630 0.56 0.56 0.52 0.519369 0.7773 0.4345 0.6398 0.2436 0.6288 0.78 0.47 0.65 0.24 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652888 NA NA NA NA NA 0.529 NA 3.2227 1330 10 103799758 103799758 C T intronic C10orf76 NA NA NA intronic ENSG00000120029 NA NA NA NA NA 10q24.32 NA NA NA NA rs11191190 0.35 0.35 0.345 0.322684 0.2535 0.5129 0.2507 0.295 0.2863 0.25 0.55 0.31 0.31 0.2804 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038531 NA NA 0.243555 0.282735 ID=COSN163750;OCCURENCE=1(NS) 0.37 NA 3.222545 1330 3 111794365 111794365 A G intronic TMPRSS7 NA NA NA intronic ENSG00000176040 NA NA NA NA NA 3q13.2 NA Name=Pol2 NA NA rs1907639 0.54 0.54 0.514 0.516374 0.6123 0.5278 0.5908 0.4145 0.4908 0.62 0.57 0.55 0.37 0.5697 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543317 NA NA 0.596635 0.420194 ID=COSN166969;OCCURENCE=1(large_intestine) 0.514 NA 3.221365 1330 17 29679246 29679246 G A intronic NF1 NA NA NA intronic ENSG00000196712 NA NA NA NA NA 17q11.2 Score=963;Name=V$LHX3_01 NA NA NA rs964288 0.44 0.44 0.405 0.430911 0.6203 0.369 0.415 0.2345 0.5767 0.63 0.38 0.45 0.22 0.5334 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062244 NA NA 0.625 0.295506 NA 0.348 NA 3.2213 1330 3 9979660 9979660 A G intronic CRELD1 NA NA NA intronic ENSG00000163703 NA NA NA NA NA 3p25.3 NA NA NA NA rs2302786 0.39 0.39 0.416 0.404752 0.2157 0.1567 0.3401 0.8911 0.2434 0.22 0.21 0.35 0.88 0.3077 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047527 NA NA 0.255349 0.774296 NA 0.609 NA 3.221251 1330 10 116060387 116060387 T C exonic AFAP1L2 NA synonymous SNV AFAP1L2:NM_001001936:exon14:c.A1605G:p.R535R,AFAP1L2:NM_032550:exon14:c.A1605G:p.R535R exonic ENSG00000169129 NA synonymous SNV ENSG00000169129:ENST00000304129:exon14:c.A1605G:p.R535R,ENSG00000169129:ENST00000369271:exon14:c.A1605G:p.R535R,ENSG00000169129:ENST00000545353:exon15:c.A1764G:p.R588R NA NA 10q25.3 NA NA NA NA rs2286396 0.66 0.66 0.617 0.641573 0.831 0.7054 0.8372 0.3003 0.7035 0.83 0.68 0.81 0.29 0.7791 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.449594 2.449594 NA 0.835349 0.381071 NA 0.674 NA 3.2212176 1330 8 27308961 27308961 C T intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs2278319 0.21 0.21 0.206 0.199081 0.2694 0.244 0.2752 0.0454 0.2342 0.26 0.22 0.28 0.08 0.2504 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.007494 NA NA 0.25907 0.078983 ID=COSN168294;OCCURENCE=1(large_intestine) 0.181 NA 3.22113 1330 19 18652844 18652844 A G intronic FKBP8 NA NA NA UTR5 ENSG00000105701 ENST00000599540:c.-64T>C NA NA NA NA 19p13.11 NA NA NA NA rs10854166 0.37 0.37 0.331 0.341054 0.4871 0.4107 0.5274 0.0295 0.408 0.5 0.4 0.5 0.04 0.4585 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346958 NA NA NA NA NA 0.442 NA 3.2210667 1330 4 1698183 1698183 C T intronic SLBP NA NA NA intronic ENSG00000163950 NA NA NA NA NA 4p16.3 NA NA NA NA rs798719 0.75 0.75 0.758 0.738219 0.7793 0.8522 0.6988 0.5991 0.7945 0.79 0.87 0.7 0.59 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957159 NA NA NA NA NA 0.703 NA 3.2207 1330 7 116903076 116903076 T C intergenic ST7,WNT2 dist=33001;dist=13610 NA NA ncRNA_exonic ENSG00000230785 NA NA NA NA NA 7q31.2 NA NA NA NA rs4730772 0.84 0.84 0.837 0.870208 0.7793 0.9901 0.8646 0.854 0.8661 0.77 0.99 0.82 0.8 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282211 NA NA NA NA NA 0.768 NA 3.2207 1330 8 19682545 19682545 A G intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs3816246 0.7 0.7 0.697 0.697085 0.7793 0.6567 0.6686 0.6596 0.7249 0.77 0.64 0.7 0.63 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529345 NA NA NA NA NA 0.768 NA 3.2207 1330 8 19682592 19682592 A G intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs7018076 0.7 0.7 0.7 0.697284 0.7793 0.6567 0.6686 0.6596 0.726 0.77 0.64 0.7 0.63 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163388 NA NA NA NA NA 0.768 NA 3.2207 1330 2 29136489 29136489 G T intronic WDR43 NA NA NA intronic ENSG00000163811 NA NA NA NA NA 2p23.2 NA NA NA NA rs4666132 0.4 0.4 0.355 0.377596 0.2266 0.7907 0.4524 0.1967 0.2986 0.24 0.78 0.41 0.2 0.3227 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976251 NA NA 0.230035 0.215183 NA 0.348 NA 3.220665 1330 1 181732695 181732695 A G intronic CACNA1E NA NA NA intronic ENSG00000198216 NA NA NA NA NA 1q25.3 NA NA NA NA rs72735265 0.21 0.21 0.204 0.26238 0.2634 0.0744 0.2983 0.3215 0.3497 0.26 0.06 0.25 0.29 0.2629 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824933 NA NA 0.253097 0.28765 NA 0.232 NA 3.220603 1330 6 15487782 15487782 C G intronic JARID2 NA NA NA intronic ENSG00000008083 NA NA NA NA NA 6p22.3 NA NA NA NA rs2076056 0.22 0.22 0.206 0.201877 0.2555 0.3075 0.2205 0.1006 0.1616 0.26 0.28 0.21 0.1 0.2643 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646962 NA NA 0.259651 0.13005 NA 0.304 NA 3.220549 1330 2 170622991 170622991 C T intergenic PHOSPHO2-KLHL23,SSB dist=14595;dist=32331 NA NA intronic ENSG00000213160 NA NA NA NA NA 2q31.1 NA NA NA NA rs28462195 0.35 0.35 0.357 0.347045 0.4463 0.3393 0.2925 0.295 0.362 0.46 0.31 0.27 0.28 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.790516 1.790516 NA NA NA NA 0.362 NA 3.2203667 1330 11 118852081 118852081 A G downstream FOXR1 NA NA NA downstream ENSG00000176302 NA NA NA NA NA 11q23.3 NA NA NA NA rs4938606 0.4 0.4 0.377 0.426318 0.4463 0.1825 0.6066 0.4766 0.4611 0.43 0.17 0.58 0.49 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111645 NA NA NA NA NA 0.486 NA 3.2203666 1330 9 136133531 136133531 A G intronic ABO NA NA NA ncRNA_intronic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs4962040 0.32 0.32 0.286 0.3123 0.3807 0.3224 0.3213 0.202 0.3742 0.38 0.3 0.37 0.23 0.3424 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868957 NA NA 0.390258 0.23226 NA 0.406 NA 3.2199753 1330 4 100258007 100258007 T C intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs1612735 0.24 0.24 0.219 0.214457 0.4056 0.0764 0.2709 0.0991 0.2761 0.42 0.07 0.31 0.12 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080002 NA NA 0.374607 0.151012 NA 0.232 NA 3.219793 1330 2 29136623 29136623 T C intronic WDR43 NA NA NA intronic ENSG00000163811 NA NA NA NA NA 2p23.2 NA NA NA NA rs4666133 0.4 0.4 0.352 0.377995 0.2276 0.7907 0.4524 0.1974 0.2986 0.23 0.78 0.41 0.2 0.3226 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712633 NA NA 0.230035 0.215753 NA 0.355 NA 3.219765 1330 4 75248685 75248685 G A intronic EREG NA NA NA intronic ENSG00000124882 NA NA NA NA NA 4q13.3 NA NA NA NA rs2367709 0.66 0.66 0.672 0.638179 0.7803 0.5972 0.7608 0.5166 0.6115 0.78 0.59 0.75 0.48 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.00626 NA NA NA NA NA 0.58 NA 3.2197 1330 20 42265966 42265966 G A intronic IFT52 NA NA NA intronic ENSG00000101052 NA NA NA NA NA 20q13.12 NA NA NA NA rs6031008 0.73 0.73 0.72 0.733427 0.7803 0.7927 0.7767 0.5961 0.7791 0.77 0.76 0.78 0.59 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556554 NA NA NA NA NA 0.754 NA 3.2197 1330 1 1330726 1330726 A G intronic CCNL2 NA NA NA intronic ENSG00000221978 NA NA NA NA NA 1p36.33 NA NA NA NA rs1240746 0.6 0.6 0.591 0.68111 0.1809 0.9792 0.5447 0.9228 0.6585 0.18 0.98 0.47 0.92 0.426 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327966 NA NA 0.173453 0.80895 NA 0.514 NA 3.219647 1330 1 46818508 46818508 T C intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs7529674 0.16 0.16 0.134 0.131789 0.2724 0.0179 0.147 0.1331 0.092 0.27 0.02 0.17 0.13 0.2185 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609636 NA NA 0.289884 0.152519 NA 0.174 NA 3.219216 1330 21 43826344 43826344 C T intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA NA NA NA rs3746923 0.42 0.42 0.43 0.429313 0.3688 0.4603 0.3545 0.5272 0.3804 0.38 0.45 0.38 0.5 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882126 NA NA 0.412005 0.495665 NA 0.457 NA 3.219195 1330 3 108112760 108112760 C T intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs2290601 0.63 0.63 0.653 0.659145 0.7813 0.496 0.6614 0.6112 0.7648 0.76 0.45 0.69 0.6 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893354 NA NA NA NA NA 0.717 NA 3.2187 1330 7 137798593 137798593 A T intronic AKR1D1 NA NA NA intronic ENSG00000122787 NA NA NA NA NA 7q33 NA NA NA NA rs2306847 0.77 0.77 0.782 0.778954 0.7813 0.7381 0.6614 0.8752 0.772 0.78 0.71 0.68 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211192 NA NA NA NA NA 0.855 NA 3.2187 1330 8 4930433 4930433 G A intergenic CSMD1,LOC100287015 dist=78105;dist=1330644 NA NA upstream ENSG00000253262 NA NA NA NA NA 8p23.2 NA NA NA NA rs4875138 0.17 0.17 0.166 0.16234 0.2813 0.0734 0.1354 0.1097 0.2219 0.28 0.09 0.16 0.12 NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365944 NA NA NA NA NA 0.21 NA 3.2187 1330 9 27609514 27609514 G A intergenic C9orf72,LINGO2 dist=35650;dist=338570 NA NA ncRNA_exonic ENSG00000215441 NA NA NA NA NA 9p21.2 NA NA NA NA rs810174 0.74 0.74 0.727 0.732029 0.7813 0.7599 0.7709 0.5998 0.8037 0.78 0.76 0.77 0.63 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034065 NA NA NA NA NA 0.645 NA 3.2187 1330 15 25414445 25414445 A G intergenic PAR1,SNORD115-1 dist=31245;dist=1425 NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs2739832 0.76 0.76 0.714 0.743211 0.7813 0.998 0.83 0.3381 0.9274 0.78 1 0.83 0.38 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687577 NA NA NA NA NA 0.667 NA 3.2187 1330 17 4621773 4621773 T G intronic ARRB2 NA NA NA intronic ENSG00000141480 NA NA NA NA NA 17p13.2 NA NA NA NA rs4522461 0.89 0.89 0.879 0.90016 0.7813 0.997 0.866 0.916 0.9254 0.79 1 0.86 0.91 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.46736 1.46736 NA NA NA NA 0.797 NA 3.2187 1330 22 41914593 41914593 C T intronic ACO2 NA NA NA intronic ENSG00000100412 NA NA NA NA NA 22q13.2 NA NA NA NA rs203319 0.45 0.45 0.432 0.484425 0.2306 0.5724 0.5591 0.6082 0.4346 0.22 0.52 0.54 0.64 0.3371 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197352 NA NA 0.213605 0.539265 NA 0.493 NA 3.218695 1330 11 116631391 116631391 T C intronic BUD13 NA NA NA intronic ENSG00000137656 NA NA NA NA NA 11q23.3 NA NA NA NA rs3741301 0.31 0.31 0.311 0.257987 0.4235 0.3304 0.2363 0.1029 0.2382 0.46 0.3 0.27 0.12 0.3579 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534929 NA NA NA NA NA 0.391 NA 3.2186 1330 2 219142594 219142594 C T intronic PNKD,TMBIM1 NA NA NA intronic ENSG00000127838,ENSG00000135926 NA NA NA NA NA 2q35 NA NA NA NA rs3817266 0.33 0.33 0.287 0.327676 0.3698 0.378 0.402 0.1952 0.3589 0.36 0.36 0.38 0.21 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.778696 1.778696 NA 0.411691 0.234827 NA 0.312 NA 3.218509 1330 19 53792794 53792794 G C downstream BIRC8 NA NA NA downstream ENSG00000163098 NA NA NA NA NA 19q13.42 NA NA NA NA rs8106055 0.4 0.4 0.373 0.404353 0.4483 0.3601 0.5173 0.3737 0.3661 0.46 0.33 0.48 0.35 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976755 NA NA NA NA NA 0.348 NA 3.2183666 1330 8 27293335 27293335 G T intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs11774417 0.21 0.21 0.192 0.20008 0.2714 0.245 0.2767 0.0461 0.2342 0.26 0.22 0.28 0.08 0.2513 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805611 NA NA 0.258953 0.078756 NA 0.181 NA 3.218347 1330 7 43540264 43540264 A G intronic HECW1 NA NA NA intronic ENSG00000002746 NA NA NA NA NA 7p13 NA NA NA NA rs2304325 0.25 0.25 0.265 0.265974 0.2515 0.2183 0.2233 0.2731 0.3507 0.26 0.22 0.26 0.27 0.2777 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559456 NA NA 0.252611 0.244397 NA 0.29 NA 3.218189 1330 15 86087212 86087212 C T intronic AKAP13 NA NA NA intronic ENSG00000170776 NA NA NA NA NA 15q25.3 NA Name=CTCF Name=34 NA rs7162720 0.9 0.9 0.92 0.902955 0.9354 0.7708 0.7853 0.9939 0.9663 0.94 0.81 0.84 0.99 0.9176 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684941 NA NA 0.929518 0.982516 NA 0.92 NA 3.217482 1330 13 25591655 25591655 A G intergenic TPTE2P1,PABPC3 dist=49048;dist=78621 NA NA exonic ENSG00000269099 NA nonsynonymous SNV ENSG00000269099:ENST00000599825:exon1:c.A115G:p.T39A NA NA 13q12.13 NA NA NA NA rs4238180 0.79 0.79 0.77 0.777756 0.8062 0.6905 0.8156 0.8752 0.68 0.82 0.68 0.83 0.86 0.8097 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685418 NA 1 NA NA ID=COSN164447;OCCURENCE=1(breast) 0.819 NA 3.2174334 1330 8 141549383 141549383 A G intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs13252337 0.24 0.24 0.204 0.222244 0.2664 0.3304 0.2839 0.0439 0.2628 0.27 0.34 0.26 0.06 0.2557 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234528 NA NA 0.261047 0.074671 NA 0.159 NA 3.216853 1330 5 147498672 147498672 G A intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA Name=5 NA rs12518996 0.49 0.49 0.461 0.488419 0.5924 0.4821 0.634 0.3139 0.5204 0.56 0.46 0.59 0.36 0.5817 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.989673 NA NA 0.609071 0.36627 NA 0.471 NA 3.216829 1330 6 139229695 139229695 A G intronic REPS1 NA NA NA intronic ENSG00000135597 NA NA NA NA NA 6q24.1 NA NA NA NA rs1188867 0.76 0.76 0.73 0.777556 0.7833 0.6389 0.8386 0.8729 0.7423 0.77 0.64 0.81 0.85 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04872 NA NA NA NA NA 0.87 NA 3.2167 1330 8 23179514 23179514 G A intronic LOXL2 NA NA NA intronic ENSG00000134013 NA NA NA NA NA 8p21.3 NA NA NA NA rs13272093 0.68 0.68 0.677 0.654553 0.7833 0.6538 0.5548 0.6127 0.6503 0.78 0.64 0.62 0.61 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648995 NA NA NA NA NA 0.71 NA 3.2167 1330 12 27081566 27081566 C G intronic ASUN NA NA NA intronic ENSG00000064102 NA NA NA NA NA 12p11.23 NA NA NA NA rs2029309 0.89 0.89 0.894 0.897165 0.7833 1 0.8804 0.9349 0.8691 0.8 1 0.86 0.93 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926782 NA NA NA NA NA 0.848 NA 3.2167 1330 18 57147392 57147392 G T intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs1663549 0.28 0.28 0.245 0.259585 0.2972 0.2024 0.2824 0.3041 0.2035 0.3 0.21 0.31 0.3 0.2661 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238367 NA NA 0.220664 0.237045 NA NA NA 3.216036 1330 2 239469431 239469431 C T intergenic LOC151171,TWIST2 dist=5291;dist=287242 NA NA intergenic ENSG00000225493,ENSG00000234279 dist=5736;dist=159534 NA NA NA NA 2q37.3 NA NA NA NA rs72984530 0.07 0.07 0.065 0.0527157 0.1173 0.0655 0.0476 0.0038 0.0429 0.12 0.07 0.04 0.01 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35741 NA NA NA NA NA 0.065 NA 3.2160334 1330 2 114501242 114501242 T C intronic SLC35F5 NA NA NA intronic ENSG00000115084 NA NA NA NA NA 2q14.1 NA NA NA NA rs3748907 0.17 0.17 0.179 0.178115 0.2873 0.126 0.1945 0.0915 0.2249 0.26 0.12 0.2 0.08 0.224 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82338 NA NA 0.272674 0.11762 NA 0.203 NA 3.216026 1330 2 90007670 90007670 G A intergenic MIR4436A,LOC654342 dist=895702;dist=1817039 NA NA upstream ENSG00000224607 NA NA NA NA NA 2p11.2 NA Name=Pol2 NA NA rs2847917 0.48 0.48 0.438 0.484824 0.6809 0.3909 0.5778 0.2504 0.6309 0.67 0.38 0.59 0.2 0.6034 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0248 NA NA NA NA NA 0.384 NA 3.2157 1330 13 25780123 25780123 T C intergenic AMER2,MTMR6 dist=34266;dist=40218 NA NA ncRNA_intronic ENSG00000225105 NA NA NA NA NA 13q12.13 NA NA NA NA rs4372559 0.63 0.63 0.627 0.610423 0.7843 0.4306 0.683 0.5514 0.6452 0.8 0.42 0.67 0.57 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750167 NA NA NA NA NA 0.717 NA 3.2157 1330 17 73282636 73282636 C T intronic SLC25A19 NA NA NA intronic ENSG00000125454 NA NA NA NA NA 17q25.1 NA NA NA NA rs2306219 0.74 0.74 0.721 0.692292 0.7843 0.8403 0.7723 0.4743 0.683 0.8 0.91 0.75 0.46 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684873 NA NA NA NA NA 0.623 NA 3.2157 1330 18 22010421 22010421 C T intronic IMPACT NA NA NA intronic ENSG00000154059 NA NA NA NA NA 18q11.2 NA NA NA NA rs9783924 0.67 0.67 0.634 0.639177 0.7843 0.6111 0.7752 0.4236 0.7137 0.78 0.64 0.75 0.47 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906277 NA NA NA NA NA 0.551 NA 3.2157 1330 22 24452885 24452885 A G intronic CABIN1 NA NA NA intronic ENSG00000099991 NA NA NA NA NA 22q11.23 NA NA NA NA rs2070467 0.69 0.69 0.666 0.699681 0.7843 0.6042 0.8069 0.621 0.7413 0.8 0.56 0.83 0.58 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77046 NA NA NA NA NA 0.572 NA 3.2157 1330 1 227299978 227299978 C T intronic CDC42BPA NA NA NA intronic ENSG00000143776 NA NA NA NA NA 1q42.13 NA NA NA NA rs2458521 0.29 0.29 0.285 0.257987 0.2624 0.247 0.2695 0.3714 0.1033 0.27 0.27 0.28 0.38 0.2624 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429149 NA NA 0.259767 0.350363 NA 0.254 NA 3.215433 1330 2 203152355 203152355 G A intronic NOP58 NA NA NA intronic ENSG00000055044 NA NA NA NA NA 2q33.1 NA NA NA NA rs7572505 0.31 0.31 0.306 0.358826 0.2535 0.126 0.3573 0.6256 0.3476 0.26 0.1 0.3 0.64 0.2852 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.307894 1.307894 NA 0.24593 0.533137 NA 0.232 NA 3.21537 1330 19 5210622 5210622 G A intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs2302224 0.26 0.26 0.228 0.282348 0.2624 0.0764 0.379 0.3911 0.2996 0.26 0.07 0.37 0.41 0.265 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.048708 NA NA 0.257326 0.331593 NA 0.167 NA 3.215274 1330 9 99006578 99006578 T C intronic HSD17B3 NA NA NA intronic ENSG00000130948 NA NA NA NA NA 9q22.32 NA NA NA NA rs2066486 0.21 0.21 0.21 0.188698 0.2714 0.0337 0.1571 0.3094 0.1227 0.28 0.04 0.16 0.35 0.2266 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49593 NA NA 0.28686 0.314798 NA 0.174 NA 3.21514 1330 15 80845136 80845136 C T intronic ARNT2 NA NA NA intronic ENSG00000172379 NA NA NA NA NA 15q25.1 NA NA NA NA rs3924894 0.34 0.34 NA 0.398163 0.3996 0.248 0.3847 0.6725 0.1902 0.32 0.2 0.38 0.48 0.3667 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527761 NA NA 0.018605 0.062188 NA NA NA 3.215095 1330 14 23855849 23855849 C T intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs2071634 0.23 0.23 0.219 0.235224 0.2684 0.1756 0.2334 0.1679 0.3548 0.27 0.19 0.26 0.18 0.2532 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09556 NA NA 0.263378 0.193688 NA 0.181 NA 3.215022 1331 19 48533856 48533856 A G intronic CABP5 NA NA NA intronic ENSG00000105507 NA NA NA NA NA 19q13.33 NA NA NA NA rs35063174 0.15 0.15 0.146 0.127995 0.2704 0.0347 0.219 0.0159 0.1646 0.26 0.04 0.26 0.04 0.2308 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146136 NA NA 0.283837 0.056514 NA 0.181 NA 3.214963 1331 12 7967135 7967135 T A intronic SLC2A14 NA NA NA intronic ENSG00000173262 NA NA NA NA NA 12p13.31 NA NA NA NA rs11055945 0.26 0.26 0.217 0.288538 0.2555 0.4831 0.2421 0.1551 0.3354 0.24 0.47 0.2 0.12 0.2846 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610832 NA NA 0.245173 0.177808 ID=COSM147411;OCCURENCE=1(stomach) 0.261 NA 3.214727 1331 10 100167436 100167436 T C intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs45523432 0.37 0.37 0.304 0.418131 0.2356 0.4395 0.379 0.5076 0.4908 0.22 0.46 0.36 0.51 0.284 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9639 NA NA 0.265698 0.47685 ID=COSN163733;OCCURENCE=1(breast) 0.138 NA 3.214702 1331 5 179763398 179763398 T G intronic GFPT2 NA NA NA intronic ENSG00000131459 NA NA NA NA NA 5q35.3 NA NA NA NA rs6891083 0.79 0.79 0.811 0.780351 0.7853 0.6776 0.7161 0.9054 0.7577 0.79 0.72 0.75 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725846 NA NA NA NA NA 0.804 NA 3.2147 1331 15 91483531 91483531 C T intronic UNC45A NA NA NA intronic ENSG00000140553 NA NA NA NA NA 15q26.1 NA NA NA NA rs17593423 0.14 0.14 0.128 0.110423 0.3002 NA 0.1556 0.0204 0.1186 0.3 NA 0.19 0.03 0.208 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.880712 NA NA 0.277455 0.063012 NA 0.196 NA 3.214345 1331 10 100167451 100167451 C G intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs12763044 0.37 0.37 0.306 0.417332 0.2356 0.4395 0.3775 0.5053 0.4908 0.22 0.46 0.36 0.51 0.2848 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565812 NA NA 0.265698 0.47231 NA 0.109 NA 3.213902 1331 15 80845137 80845137 T C intronic ARNT2 NA NA NA intronic ENSG00000172379 NA NA NA NA NA 15q25.1 NA NA NA NA rs3924893 0.34 0.34 0.014 0.398163 0.3996 0.248 0.3847 0.6725 0.1902 0.32 0.2 0.38 0.48 0.3668 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259703 NA NA 0.019884 0.070586 NA NA NA 3.213716 1331 11 134234406 134234406 A T intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs4262740 0.89 0.89 0.894 0.922524 0.7863 0.994 0.9063 0.9879 0.9121 0.76 1 0.88 0.98 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149439 NA NA NA NA NA 0.536 NA 3.2137 1331 13 32852585 32852585 C T intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs11617081 0.15 0.15 0.135 0.139976 0.2753 0.003 0.1873 0.1142 0.1431 0.28 0.01 0.17 0.11 0.2263 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.67137 NA NA 0.284946 0.121703 NA 0.138 NA 3.213454 1331 7 6854512 6854512 G A intronic CCZ1B NA NA NA intronic ENSG00000146574 NA NA NA NA NA 7p22.1 NA NA NA NA rs58851147 0.3 0.3 0.302 0.328474 0.2445 0.4196 0.2464 0.3268 0.3814 0.24 0.39 0.29 0.28 0.2842 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3576 NA NA 0.258034 0.298424 NA 0.101 NA 3.213266 1331 10 55590950 55590950 C T intronic PCDH15 NA NA NA intronic ENSG00000150275 NA NA NA NA NA 10q21.1 NA NA NA NA rs77597438 NA NA NA 0.440895 0.3678 0.7232 0.4251 0.2474 0.498 NA NA NA NA 0.4193 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.044996 NA NA NA NA NA NA NA 3.2129 1331 8 2027434 2027434 G C intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs2235120 0.77 0.77 0.759 0.784545 0.7873 0.8244 0.853 0.6475 0.8773 0.78 0.85 0.8 0.62 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436328 NA NA NA NA NA 0.681 NA 3.2127 1331 17 73732522 73732522 T G intronic ITGB4 NA NA NA intronic ENSG00000132470 NA NA NA NA NA 17q25.1 NA NA NA NA rs820176 0.7 0.7 0.713 0.689896 0.7873 0.5952 0.7061 0.7269 0.6258 0.77 0.55 0.77 0.69 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387198 NA NA NA NA NA 0.696 NA 3.2127 1331 14 23853629 23853629 T C intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs8006357 0.22 0.22 0.198 0.229633 0.2704 0.1835 0.2305 0.1452 0.3487 0.27 0.2 0.26 0.16 0.2528 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196393 NA NA 0.264419 0.171584 NA 0.174 NA 3.212381 1331 6 30076755 30076755 G A intronic TRIM31 NA NA NA ncRNA_intronic ENSG00000231226 NA NA NA NA NA 6p22.1 NA NA NA NA rs2074483 0.28 0.28 0.266 0.279153 0.3718 0.2242 0.2637 0.1641 0.407 0.37 0.23 0.3 0.18 0.3529 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375751 NA NA 0.396456 0.199206 NA 0.232 NA 3.2121773 1331 6 170592293 170592293 C G intronic DLL1 NA NA NA intronic ENSG00000198719 NA NA NA NA NA 6q27 NA NA NA NA rs2295205 0.18 0.18 0.162 0.179113 0.2763 0.1349 0.2378 0.1036 0.1851 0.27 0.11 0.23 0.09 0.2424 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193593 NA NA 0.269231 0.133547 ID=COSN167944;OCCURENCE=1(large_intestine) 0.203 NA 3.212069 1331 15 82302537 82302537 A G intergenic TMC3,MEX3B dist=636119;dist=31582 NA NA downstream ENSG00000259622 NA NA NA NA NA 15q25.2 NA NA NA NA rs34593711 0.17 0.17 0.168 0.34385 0.2883 0.2897 0.2046 0.559 0.2648 0.12 0.15 0.07 0.32 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.667901 1.667901 NA NA NA NA 0.007 NA 3.2117 1331 5 147516470 147516470 C T intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs4334874 0.49 0.49 0.505 0.491014 0.4076 0.5188 0.3602 0.6097 0.4806 0.44 0.54 0.41 0.57 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80254 NA NA 0.381207 0.578757 NA 0.522 NA 3.211193 1331 19 7167951 7167951 T G intronic INSR NA NA NA intronic ENSG00000171105 NA NA NA NA NA 19p13.2 NA NA NA NA rs2860177 0.24 0.24 0.238 0.247804 0.2883 0.2589 0.2435 0.2057 0.2546 0.29 0.21 0.25 0.19 0.257 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675808 NA NA 0.243605 0.207671 ID=COSN165704;OCCURENCE=1(NS) 0.174 NA 3.211095 1331 19 41928724 41928724 G A intronic BCKDHA NA NA NA intronic ENSG00000248098,ENSG00000255730 NA NA NA NA NA 19q13.2 NA NA NA NA rs284654 0.58 0.58 0.61 0.585663 0.5924 0.4325 0.4726 0.7466 0.5992 0.58 0.46 0.55 0.76 0.5896 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384566 NA NA 0.607093 0.71448 NA 0.652 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079271.1;CLNDSDB=.;CLNDSDBID=. 3.210907 1331 7 55411534 55411534 T C intergenic EGFR,LANCL2 dist=136503;dist=21607 NA NA ncRNA_exonic ENSG00000230936 NA NA NA NA NA 7p11.2 NA NA NA NA rs6973337 0.84 0.84 0.832 0.830272 0.7893 0.8016 0.8357 0.9713 0.7076 0.8 0.8 0.81 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252103 NA NA NA NA NA 0.913 NA 3.2107 1331 1 111784816 111784816 G A intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs11102221 0.25 0.25 0.257 0.279553 0.2425 0.1171 0.3429 0.3699 0.318 0.23 0.12 0.31 0.39 0.2821 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077104 NA NA 0.264767 0.342488 NA 0.268 NA 3.210633 1331 12 29462224 29462224 C G intronic FAR2 NA NA NA ncRNA_intronic ENSG00000257176 NA NA NA NA NA 12p11.22 NA NA NA NA rs6487807 0.64 0.64 0.667 0.666933 0.5636 0.6964 0.4712 0.8623 0.6176 0.57 0.67 0.45 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725756 NA NA 0.559215 0.833092 NA 0.63 NA 3.2105183 1331 4 88005203 88005203 G A intronic AFF1 NA NA NA intronic ENSG00000172493 NA NA NA NA NA 4q22.1 NA NA NA NA rs236996 0.44 0.44 0.463 0.451877 0.3986 0.4097 0.3343 0.5106 0.5542 0.42 0.42 0.33 0.54 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002403 NA NA 0.390949 0.505058 NA 0.355 NA 3.210451 1331 17 39620733 39620733 G C intronic KRT32 NA NA NA intronic ENSG00000108759 NA NA NA NA NA 17q21.2 NA NA NA NA rs2604958 0.31 0.31 0.333 0.308307 0.2515 0.4157 0.1816 0.3729 0.2587 0.26 0.42 0.2 0.35 0.2691 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168573 NA NA 0.269186 0.350885 NA 0.275 NA 3.210214 1331 1 46810842 46810842 C T intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs6684274 0.16 0.16 0.154 0.131989 0.2724 0.0179 0.147 0.1339 0.092 0.27 0.02 0.17 0.14 0.2278 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137037 NA NA 0.289651 0.152973 NA 0.203 NA 3.210149 1331 2 220421479 220421479 A G intronic OBSL1 NA NA NA intronic ENSG00000124006 NA NA NA NA NA 2q35 NA NA NA NA rs13010015 0.27 0.27 0.229 0.233427 0.2555 0.2827 0.2968 0.2519 0.09 0.26 0.3 0.29 0.22 0.2801 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232498 NA NA 0.254686 0.246802 NA 0.159 NA 3.209714 1331 14 94833033 94833033 T C intergenic SERPINA6,SERPINA1 dist=43345;dist=10051 NA NA ncRNA_exonic ENSG00000258597 NA NA NA NA NA 14q32.13 NA NA NA NA rs1956172 0.78 0.78 0.791 0.775359 0.7903 0.9851 0.8804 0.5015 0.8395 0.77 0.98 0.87 0.51 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526574 NA 1 NA NA NA 0.804 NA 3.2097 1331 11 62098407 62098407 G A intergenic SCGB1D4,ASRGL1 dist=31871;dist=6367 NA NA upstream ENSG00000255213 NA NA NA NA NA 11q12.3 NA NA NA NA rs7128883 0.27 0.27 0.253 0.282947 0.2903 0.2331 0.2781 0.2526 0.3712 0.29 0.27 0.25 0.26 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.024588 NA NA NA NA NA 0.268 NA 3.2097 1331 22 42031953 42031953 C G intronic XRCC6 NA NA NA intronic ENSG00000196419 NA NA NA NA NA 22q13.2 NA NA NA NA rs132774 0.71 0.71 0.711 0.660343 0.7903 0.9097 0.4841 0.4894 0.6258 0.8 0.91 0.51 0.5 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.409787 NA NA NA NA NA 0.645 NA 3.2097 1331 10 96665664 96665664 G T intergenic CYP2C19,CYP2C9 dist=52993;dist=32751 NA NA intergenic ENSG00000225354,ENSG00000138109 dist=22564;dist=32764 NA NA NA NA 10q23.33 NA NA NA NA rs61888410 0.07 0.07 0.049 0.048123 0.1243 0.002 0.0994 0.0083 0.0348 0.12 0.0035 0.12 0.02 NA 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.100757 2.100757 NA NA NA NA 0.094 NA 3.2090334 1331 4 169812313 169812313 T C intronic PALLD NA NA NA intronic ENSG00000129116,ENSG00000145439 NA NA NA NA NA 4q32.3 NA NA NA NA rs6827082 0.75 0.75 0.739 0.726837 0.7913 0.9702 0.7032 0.4448 0.8078 0.81 0.96 0.69 0.45 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.082282 NA NA NA NA NA 0.638 NA 3.2087 1331 9 124073176 124073176 T C intronic GSN NA NA NA intronic ENSG00000148180 NA NA NA NA NA 9q33.2 NA NA NA NA rs306785 0.88 0.88 0.871 0.888978 0.7913 0.994 0.8588 0.8971 0.8916 0.78 1 0.86 0.9 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062105 NA NA NA NA NA 0.848 NA 3.2087 1331 6 160131920 160131920 C T intergenic SOD2,WTAP dist=17567;dist=16110 NA NA intronic ENSG00000112096 NA NA NA NA NA 6q25.3 NA NA NA NA rs62437319 0.3 0.3 0.284 0.302516 0.4583 0.1349 0.4337 0.1551 0.4213 0.46 0.12 0.45 0.15 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009755 NA NA NA NA NA 0.203 NA 3.2083667 1331 12 66911771 66911771 G T intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA NA NA NA rs11838180 0.24 0.24 0.225 0.247604 0.2734 0.1478 0.1902 0.3351 0.2464 0.26 0.16 0.2 0.33 0.2451 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545188 NA NA 0.273271 0.315518 NA 0.312 NA 3.208229 1331 3 158409262 158409262 C T UTR3 GFM1 NM_024996:c.*6C>T NA NA UTR3 ENSG00000168827 ENST00000486715:c.*6C>T,ENST00000478254:c.*902C>T,ENST00000264263:c.*6C>T,ENST00000472383:c.*178C>T NA NA NA NA 3q25.32 NA NA NA NA rs1047355 0.37 0.37 0.392 0.409145 0.3847 0.1855 0.3386 0.6392 0.4039 0.39 0.16 0.32 0.62 0.3657 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.085386 NA NA 0.374738 0.59419 NA 0.464 NA 3.2081954 1331 4 46967279 46967279 C A intronic GABRA4 NA NA NA intronic ENSG00000109158 NA NA NA NA NA 4p12 NA NA NA NA rs2055943 0.26 0.26 0.255 0.229832 0.2793 0.3403 0.1441 0.1982 0.1687 0.28 0.33 0.16 0.22 0.2372 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205539 NA NA 0.275698 0.199501 NA 0.181 NA 3.207802 1331 4 104493370 104493370 G A intergenic CENPE,TACR3 dist=373804;dist=17255 NA NA ncRNA_exonic ENSG00000251571 NA NA NA NA NA 4q24 NA NA NA NA rs2588907 0.59 0.59 0.562 0.531949 0.7922 0.5149 0.6945 0.2572 0.5378 0.8 0.52 0.74 0.25 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864066 NA NA NA NA NA 0.558 NA 3.2078 1331 15 100246834 100246834 T G intronic MEF2A NA NA NA intronic ENSG00000068305 NA NA NA NA NA 15q26.3 NA NA NA NA rs325409 0.63 0.63 0.608 0.61242 0.7922 0.7103 0.6369 0.2057 0.8589 0.79 0.73 0.68 0.22 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472206 NA NA NA NA NA 0.652 NA 3.2078 1331 19 6262355 6262355 C T intronic MLLT1 NA NA NA intronic ENSG00000130382 NA NA NA NA NA 19p13.3 NA NA NA NA rs2227261 0.27 0.27 0.269 0.294329 0.2604 0.0278 0.3501 0.497 0.2904 0.26 0.03 0.34 0.5 0.2664 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127085 NA NA 0.265698 0.447118 NA 0.319 NA 3.207502 1331 1 158389659 158389659 T C downstream OR10K2 NA NA NA downstream ENSG00000180708 NA NA NA NA NA 1q23.1 NA NA NA NA rs58605957 0.3 0.3 0.263 0.280551 0.4592 0.1687 0.2695 0.2186 0.3037 0.48 0.19 0.29 0.18 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721168 NA NA NA NA NA 0.29 NA 3.2074666 1331 2 173861340 173861340 G A intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA NA NA 2q31.1 NA NA NA NA rs2290374 0.46 0.46 0.441 0.420527 0.4036 0.7877 0.3487 0.2428 0.3507 0.37 0.79 0.38 0.26 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290216 NA NA 0.389063 0.254335 NA 0.268 NA 3.207337 1331 6 109190267 109190267 A T intronic ARMC2 NA NA NA intronic ENSG00000118690 NA NA NA NA NA 6q21 NA NA NA NA rs2806362 0.77 0.77 0.763 0.775759 0.7932 0.7927 0.8559 0.6657 0.8323 0.79 0.79 0.82 0.69 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.72804 3.72804 NA NA NA NA 0.688 NA 3.2068 1331 12 48142418 48142418 C G intronic RAPGEF3 NA NA NA intronic ENSG00000079337 NA NA NA NA NA 12q13.11 NA NA NA NA rs757281 0.83 0.83 0.813 0.807308 0.7932 0.9494 0.8573 0.7648 0.6973 0.78 0.93 0.9 0.74 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381356 NA NA NA NA NA 0.826 NA 3.2068 1331 12 442620 442620 C T intronic KDM5A NA NA NA intronic ENSG00000073614 NA NA NA NA NA 12p13.33 NA NA NA NA rs4980885 0.35 0.35 0.322 0.351637 0.2316 0.506 0.3199 0.3306 0.3671 0.24 0.5 0.32 0.36 0.3098 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741736 NA NA 0.251938 0.308939 NA 0.283 NA 3.206662 1331 11 64883864 64883864 A G downstream TM7SF2,ZNHIT2 NA NA NA upstream;downstream ENSG00000255173;ENSG00000149809,ENSG00000174276 NA NA NA NA NA 11q13.1 NA Name=USF2 NA NA rs1706937 0.48 0.48 0.486 0.448283 0.4901 0.6597 0.317 0.3094 0.4683 0.51 0.67 0.35 0.32 0.4757 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80512 NA NA 0.494298 0.341364 NA 0.529 NA 3.2065686 1331 14 106926176 106926176 C T intergenic LINC00226,LINC00221 dist=181210;dist=12279 NA NA downstream ENSG00000232216 NA NA NA NA NA 14q32.33 NA NA NA NA rs7401517 0.27 0.27 0.238 NA NA NA NA NA NA 0.27 0.16 0.21 0.43 0.2935 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184391 NA NA NA NA NA 0.275 NA 3.2065 1331 10 81318621 81318621 C T intronic SFTPA2 NA NA NA intronic ENSG00000185303 NA NA NA NA NA 10q22.3 NA NA NA NA rs17884396 0.3 0.3 0.314 0.346246 0.2505 0.1657 0.2911 0.5635 0.3763 0.25 0.17 0.3 0.53 0.296 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327392 NA NA 0.247439 0.50227 NA 0.217 NA 3.206061 1331 14 106926167 106926167 G A intergenic LINC00226,LINC00221 dist=181201;dist=12288 NA NA downstream ENSG00000232216 NA NA NA NA NA 14q32.33 NA NA NA NA rs7401540 0.27 0.27 0.251 NA NA NA NA NA NA 0.27 0.16 0.21 0.42 0.294 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.3092 NA NA NA NA NA 0.275 NA 3.206 1331 2 97693966 97693966 A G intergenic FAM178B,FAHD2B dist=41665;dist=55357 NA NA ncRNA_intronic ENSG00000144188 NA NA NA NA NA 2q11.2 NA NA NA NA rs1669771 0.51 0.51 NA 0.438698 0.7942 0.3591 0.4813 0.3079 0.3016 0.77 0.34 0.52 0.31 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864026 NA NA NA NA ID=COSN166206;OCCURENCE=1(breast) 0.246 NA 3.2058 1331 22 31532568 31532568 G C intronic PLA2G3 NA NA NA intronic ENSG00000100078 NA NA NA NA NA 22q12.2 NA NA NA NA rs757872 0.73 0.73 0.719 0.737819 0.7942 0.7153 0.804 0.5431 0.9192 0.8 0.72 0.78 0.59 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961378 NA NA NA NA NA 0.725 NA 3.2058 1331 5 178581797 178581797 C T intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs2278222 0.22 0.22 0.19 0.23123 0.2485 0.3244 0.2925 0.0446 0.3262 0.24 0.32 0.26 0.04 0.3113 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108396 NA NA 0.23476 0.075125 NA 0.152 NA 3.20544 1331 1 235922228 235922228 T C intronic LYST NA NA NA intronic ENSG00000143669 NA NA NA NA NA 1q42.3 NA NA NA NA rs3738519 0.24 0.24 0.234 0.230032 0.2813 0.0248 0.2003 0.4198 0.1534 0.28 0.03 0.22 0.42 0.2489 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274954 NA NA 0.264419 0.425329 NA 0.304 NA 3.205381 1331 14 106926145 106926145 C G intergenic LINC00226,LINC00221 dist=181179;dist=12310 NA NA downstream ENSG00000232216 NA NA NA NA NA 14q32.33 NA NA NA NA rs7401516 0.27 0.27 0.258 NA NA NA NA NA NA 0.27 0.15 0.22 0.44 0.2947 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.583894 NA NA NA NA NA 0.261 NA 3.2053 1332 20 13029790 13029790 C T intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA NA NA NA rs6078899 0.27 0.27 0.256 0.298323 0.2346 0.3889 0.33 0.1241 0.4836 0.24 0.45 0.27 0.11 0.2998 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505321 NA NA 0.260698 0.142306 NA 0.181 NA 3.204902 1332 6 160201677 160201677 G A intronic TCP1 NA NA NA intronic ENSG00000120438 NA NA NA NA NA 6q25.3 NA NA NA NA rs3818300 0.74 0.74 0.725 0.761981 0.7952 0.5903 0.8746 0.7443 0.8487 0.8 0.57 0.87 0.73 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671157 NA NA NA NA NA 0.638 NA 3.2048 1332 17 21828293 21828293 T A intergenic FAM27L,FLJ36000 dist=1794;dist=75769 NA NA upstream ENSG00000265567 NA NA NA NA NA 17p11.2 NA NA NA NA rs34862186 0.32 0.32 0.293 0.30631 0.2952 0.5873 0.3775 0.0711 0.2955 0.3 0.56 0.33 0.09 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112461 NA NA NA NA NA 0.283 NA 3.2048 1332 21 43248418 43248418 A G intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs28655031 0.71 0.71 0.691 0.702676 0.7952 0.6766 0.7723 0.6309 0.682 0.81 0.65 0.78 0.6 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096251 NA NA NA NA NA 0.514 NA 3.2048 1332 5 145509573 145509573 G A intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs11953517 0.2 0.2 0.166 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2639 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.893591 NA NA 0.278837 0.060145 ID=COSM149965;OCCURENCE=1(stomach) 0.268 NA 3.204763 1332 8 10584212 10584212 C T intronic SOX7 NA NA NA intronic ENSG00000171056,ENSG00000258724 NA NA NA NA NA 8p23.1 NA NA Name=6 NA rs10100209 0.64 0.64 0.657 0.635982 0.6093 0.4256 0.6268 0.8585 0.5859 0.62 0.47 0.65 0.86 0.5955 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762375 NA NA 0.590486 0.811308 NA 0.601 NA 3.204714 1332 19 56719822 56719822 G T intergenic ZSCAN5B,ZSCAN5A dist=15401;dist=12857 NA NA exonic ENSG00000204532 NA synonymous SNV ENSG00000204532:ENST00000376267:exon4:c.G744T:p.G248G,ENSG00000204532:ENST00000534327:exon5:c.G744T:p.G248G NA NA 19q13.43 NA NA NA NA rs1865101 0.67 0.67 0.609 0.666134 0.6541 0.6954 0.719 0.652 0.6299 0.66 0.7 0.68 0.63 0.6413 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817595 NA NA NA NA ID=COSM148771;OCCURENCE=1(stomach) 0.601 NA 3.2046 1332 19 15881751 15881751 A C ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs8112713 0.65 0.65 0.642 0.657149 0.7614 0.3313 0.5965 0.8132 0.7178 0.76 0.35 0.65 0.83 0.7007 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952287 NA NA NA NA NA 0.696 NA 3.2045666 1332 17 30696292 30696292 C T intronic ZNF207 NA NA NA intronic ENSG00000010244 NA NA NA NA NA 17q11.2 NA NA Name=2 NA rs2286645 0.51 0.51 0.515 0.516773 0.6372 0.1071 0.549 0.7421 0.4877 0.65 0.09 0.56 0.75 0.5513 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.183684 NA NA 0.606977 0.719473 ID=COSN165386;OCCURENCE=1(NS) 0.565 NA 3.204523 1332 10 123719835 123719835 T A intronic NSMCE4A NA NA NA UTR3 ENSG00000107672 ENST00000538652:c.*30A>T NA NA NA NA 10q26.13 NA NA NA NA rs10887033 0.31 0.31 0.309 0.325879 0.2833 0.2897 0.3559 0.2829 0.4438 0.29 0.31 0.38 0.3 0.3744 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.167447 2.167447 NA 0.304474 0.267045 NA 0.471 NA 3.2044927 1332 17 72859078 72859078 A G intronic FDXR NA NA NA intronic ENSG00000161513 NA NA NA NA NA 17q25.1 NA NA NA NA rs690371 0.32 0.32 0.285 0.297724 0.2664 0.4732 0.1844 0.2806 0.2526 0.28 0.49 0.19 0.29 0.2694 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.497178 1.497178 NA 0.259884 0.270767 NA 0.283 NA 3.204316 1332 7 83592491 83592491 T C intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA NA NA rs7809708 0.22 0.22 0.235 0.215455 0.2913 0.0427 0.2017 0.3374 0.1605 0.28 0.04 0.25 0.33 0.2309 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.506693 1.506693 NA 0.273488 0.307989 NA 0.341 NA 3.204312 1332 9 137982232 137982232 T G intronic OLFM1 NA NA NA intronic ENSG00000130558 NA NA NA NA NA 9q34.3 NA NA NA NA rs56337838 NA NA NA 0.434904 0.3698 0.5288 0.2867 0.4728 0.4591 NA NA NA NA 0.426 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254829 NA NA NA NA NA 0.435 NA 3.2042 1332 6 32188099 32188099 C T intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA NA 6p21.32 NA NA NA NA rs430916 0.2 0.2 0.186 0.182708 0.2823 0.1339 0.2104 0.115 0.2025 0.27 0.13 0.24 0.12 0.2511 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.047339 NA NA 0.262442 0.130504 NA 0.268 NA 3.204158 1332 18 23901198 23901198 G A intronic TAF4B NA NA NA intronic ENSG00000141384 NA NA NA NA NA 18q11.2 NA NA NA NA rs2276407 0.15 0.15 0.143 0.128395 0.2883 0.0565 0.1369 0.0779 0.1002 0.29 0.05 0.13 0.08 0.2221 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399775 NA NA 0.285767 0.109273 NA 0.188 NA 3.203833 1332 18 43248504 43248504 T C intronic SLC14A2 NA NA NA intronic ENSG00000132874 NA NA NA NA NA 18q12.3 NA NA NA NA rs6507631 0.7 0.7 0.688 0.703474 0.7962 0.4226 0.755 0.8245 0.6973 0.8 0.41 0.77 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076529 NA NA NA NA NA 0.594 NA 3.2038 1332 18 43248509 43248509 T C intronic SLC14A2 NA NA NA intronic ENSG00000132874 NA NA NA NA NA 18q12.3 NA NA NA NA rs10451385 0.64 0.64 0.61 0.634585 0.7962 0.4226 0.7435 0.5696 0.6973 0.8 0.41 0.76 0.57 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082442 NA NA NA NA NA 0.529 NA 3.2038 1332 18 54363747 54363747 A G intronic WDR7 NA NA NA intronic ENSG00000091157 NA NA NA NA NA 18q21.31 NA NA NA NA rs1468742 0.58 0.58 0.513 0.556909 0.7962 0.5923 0.6009 0.1626 0.7761 0.81 0.57 0.67 0.16 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225538 NA NA NA NA NA 0.551 NA 3.2038 1332 5 145533418 145533418 T A intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs34342344 0.2 0.2 0.172 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.2651 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114788 NA NA 0.278605 0.059918 ID=COSN167587;OCCURENCE=1(large_intestine) 0.268 NA 3.203795 1332 6 70916998 70916998 G A UTR3 COL19A1 NM_001858:c.*20G>A NA NA UTR3 ENSG00000082293 ENST00000322773:c.*20G>A,ENST00000393344:c.*20G>A NA NA NA NA 6q13 NA NA NA NA rs1736 0.31 0.31 0.31 0.321885 0.3936 0.131 0.33 0.3449 0.408 0.39 0.15 0.33 0.34 0.3521 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103148 NA NA 0.384159 0.34975 NA 0.355 NA 3.2034744 1332 5 145538924 145538924 T A intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs13178516 0.2 0.2 0.163 0.181709 0.2525 0.1984 0.3775 0.0076 0.1881 0.25 0.2 0.3 0.02 0.265 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859332 NA NA 0.279045 0.0604 ID=COSN167588;OCCURENCE=2(large_intestine) 0.254 NA 3.203455 1332 3 124374405 124374405 A C intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs4677939 0.28 0.28 0.246 0.266573 0.2763 0.4048 0.255 0.2118 0.1963 0.27 0.39 0.26 0.16 0.261 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618641 NA NA 0.259419 0.178847 NA 0.21 NA 3.203281 1332 5 149827098 149827098 G A intronic RPS14 NA NA NA intronic ENSG00000164587 NA NA NA NA NA 5q33.1 NA NA NA NA rs3797622 0.24 0.24 0.226 0.268371 0.2575 0.2669 0.2161 0.2027 0.407 0.26 0.28 0.23 0.2 0.2723 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284508 NA NA 0.266977 0.215161 NA 0.341 NA 3.203223 1332 9 23681867 23681867 G A intergenic FLJ35282,ELAVL2 dist=857655;dist=8236 NA NA upstream ENSG00000226626 NA NA NA NA NA 9p21.3 NA NA NA NA rs10966017 0.19 0.19 0.148 0.147165 0.2972 0.1161 0.2723 0.0204 0.1074 0.3 0.11 0.3 0.03 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.080721 NA NA NA NA NA 0.145 NA 3.2028 1332 11 122489782 122489782 A G intergenic MIR100HG,UBASH3B dist=416012;dist=36616 NA NA ncRNA_exonic ENSG00000254935 NA NA NA NA NA 11q24.1 NA NA NA NA rs10750214 0.79 0.79 0.76 0.78754 0.7972 0.7411 0.8271 0.7943 0.7883 0.8 0.75 0.81 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887696 NA NA NA NA NA 0.833 NA 3.2028 1332 12 47163306 47163306 C T intronic SLC38A4 NA NA NA intronic ENSG00000139209 NA NA NA NA NA 12q13.11 NA NA NA NA rs180403 0.6 0.6 0.575 0.596446 0.7972 0.4891 0.6455 0.4062 0.7229 0.77 0.49 0.63 0.43 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102611 NA NA NA NA NA 0.616 NA 3.2028 1332 13 102344867 102344867 A G intronic ITGBL1 NA NA NA intronic ENSG00000198542 NA NA NA NA NA 13q33.1 NA NA NA NA rs981073 0.82 0.82 0.806 0.839058 0.7972 0.9732 0.8703 0.6944 0.9172 0.79 0.97 0.85 0.68 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449854 NA NA NA NA NA 0.862 NA 3.2028 1332 21 43246223 43246223 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs28559700 0.74 0.74 0.729 0.741014 0.7972 0.6766 0.7925 0.761 0.6861 0.81 0.65 0.8 0.72 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414216 NA NA NA NA NA 0.667 NA 3.2028 1332 18 28923983 28923983 A C intronic DSG1 NA NA NA ncRNA_intronic ENSG00000266729 NA NA NA NA NA 18q12.1 NA NA NA NA rs11660224 NA NA 0.008 0.461262 0.5537 0.251 0.366 0.5151 0.5777 NA NA NA NA 0.5039 0.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224148 NA NA 0.073091 0.069451 NA NA NA 3.2026423 1332 3 108174537 108174537 T C intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs3957557 0.15 0.15 0.121 0.105631 0.2992 NA 0.1888 0.0212 0.0706 0.31 NA 0.22 0.04 0.2102 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603355 NA NA 0.288086 0.064935 NA 0.188 NA 3.202514 1332 11 3436356 3436356 A G intergenic LOC650368,TRPC2 dist=5978;dist=211334 NA NA ncRNA_intronic ENSG00000166492 NA NA NA NA NA 11p15.4 NA NA NA NA rs6578350 0.88 0.88 0.88 0.88119 0.7982 0.9722 0.8689 0.8888 0.8712 0.81 0.98 0.83 0.9 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.84289 NA NA NA NA NA 0.754 NA 3.2018 1332 11 20959482 20959482 G C intronic NELL1 NA NA NA intronic ENSG00000165973 NA NA NA NA NA 11p15.1 NA NA NA NA rs1880086 0.68 0.68 0.642 0.66254 0.7982 0.755 0.7392 0.351 0.7945 0.8 0.77 0.73 0.35 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132733 NA NA NA NA NA 0.688 NA 3.2018 1332 11 117030581 117030581 T A intronic PAFAH1B2 NA NA NA intronic ENSG00000168092 NA NA NA NA NA 11q23.3 NA NA NA NA rs1871757 0.65 0.65 0.654 0.613818 0.7982 0.4554 0.696 0.6195 0.5215 0.8 0.47 0.72 0.59 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505897 NA NA NA NA NA 0.688 NA 3.2018 1332 5 147498523 147498523 T C intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 Score=903;Name=V$EVI1_06 NA NA NA rs3764926 0.51 0.51 0.491 0.508786 0.5924 0.4792 0.6398 0.3903 0.5204 0.56 0.46 0.59 0.43 0.5892 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116672 NA NA 0.616723 0.437097 NA 0.478 NA 3.201677 1332 8 28600572 28600572 G C intronic EXTL3 NA NA NA intronic ENSG00000012232 NA NA NA NA NA 8p21.1 NA NA NA NA rs2048369 0.24 0.24 0.225 0.224441 0.2783 0.3472 0.1974 0.087 0.2474 0.28 0.33 0.23 0.08 0.2542 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686629 NA NA 0.26593 0.108034 NA 0.312 NA 3.20157 1332 22 23540414 23540414 T G intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA NA NA rs2071431 0.32 0.32 0.276 0.302716 0.2406 0.3581 0.3674 0.3533 0.1953 0.26 0.38 0.3 0.36 0.2934 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279461 NA NA 0.26444 0.335616 NA 0.275 NA 3.20156 1332 11 78189558 78189558 T C intronic NARS2 NA NA NA intronic ENSG00000137513 NA NA NA NA NA 11q14.1 NA NA NA NA rs4944202 0.3 0.3 0.323 0.298123 0.1938 0.4196 0.3458 0.2867 0.2618 0.2 0.43 0.29 0.32 0.4206 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.296533 NA NA 0.184059 0.275238 NA 0.181 NA 3.201541 1332 4 47680085 47680085 T G intronic CORIN NA NA NA intronic ENSG00000145244 NA NA NA NA NA 4p12 NA NA NA NA rs2271037 0.45 0.45 0.446 0.443091 0.2545 0.6091 0.3069 0.7247 0.182 0.26 0.6 0.29 0.67 0.3118 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581149 NA NA 0.232209 0.646618 NA 0.391 NA 3.201491 1332 19 41919944 41919944 A C intronic BCKDHA NA NA NA intronic ENSG00000248098,ENSG00000255730 NA NA NA NA NA 19q13.2 NA NA NA NA rs3213861 0.61 0.61 0.618 0.616014 0.5924 0.4306 0.4885 0.8548 0.5992 0.58 0.45 0.57 0.86 0.5989 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.529162 2.529162 NA 0.607583 0.809805 NA 0.688 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079239.1;CLNDSDB=.;CLNDSDBID=. 3.201117 1332 19 21022198 21022198 G A intergenic ZNF626,ZNF85 dist=177796;dist=83861 NA NA ncRNA_intronic ENSG00000269373 NA NA NA NA NA 19p12 NA NA NA NA rs2547180 0.71 0.71 0.691 0.678315 0.7992 0.5952 0.6081 0.6649 0.7076 0.83 0.62 0.64 0.68 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619123 NA NA NA NA NA 0.725 NA 3.2008 1332 7 1590443 1590443 T C intronic TMEM184A NA NA NA intronic ENSG00000164855 NA NA NA NA NA 7p22.3 NA Name=Pol2 NA NA rs2304361 0.64 0.64 0.622 0.609225 0.6252 0.6915 0.6542 0.5613 0.5409 0.63 0.71 0.65 0.57 0.602 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156035 NA NA 0.572096 0.571823 NA 0.746 NA 3.200704 1332 9 35707338 35707338 G A intronic TLN1 NA NA NA intronic ENSG00000137076 NA NA NA NA NA 9p13.3 NA NA NA NA rs55810625 0.24 0.24 0.215 0.201677 0.2694 0.3383 0.2695 0.0204 0.1881 0.26 0.37 0.28 0.02 0.2497 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.153925 NA NA 0.280233 0.070132 NA 0.188 NA 3.200667 1332 3 184071017 184071017 G A intronic CLCN2 NA NA NA intronic ENSG00000114859,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs41266265 0.15 0.15 0.12 0.148962 0.2853 0.0516 0.1859 0.0227 0.2536 0.26 0.02 0.25 0.03 0.224 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792811 NA NA 0.290233 0.060599 NA NA NA 3.200467 1332 19 54742999 54742999 C A intronic LILRA6 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs8100079 0.3 0.3 0.289 0.336462 0.2763 0.0556 0.268 0.7269 0.2086 0.25 0.05 0.26 0.7 0.2658 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178776 NA NA 0.257502 0.640661 NA 0.29 NA 3.200398 1332 1 152552461 152552461 C A intronic LCE3D NA NA NA intronic ENSG00000163202 NA NA NA NA NA 1q21.3 NA NA NA NA rs4845313 0.23 0.23 0.183 0.232228 0.2535 0.2956 0.3012 0.0666 0.32 0.26 0.3 0.28 0.07 0.2798 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057723 NA NA 0.26686 0.113028 ID=COSN163242;OCCURENCE=1(breast) 0.116 NA 3.19984 1332 3 194346544 194346544 T A intronic TMEM44 NA NA NA intronic ENSG00000145014 NA NA NA NA NA 3q29 NA NA NA NA rs1773191 0.83 0.83 0.809 0.832668 0.8002 0.9633 0.7925 0.7186 0.9141 0.8 0.95 0.8 0.75 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510219 NA NA NA NA NA 0.768 NA 3.1998 1332 3 194346553 194346553 T C intronic TMEM44 NA NA NA intronic ENSG00000145014 NA NA NA NA NA 3q29 NA NA NA NA rs1773190 0.83 0.83 0.821 0.832668 0.8002 0.9633 0.7925 0.7186 0.9141 0.81 0.96 0.8 0.75 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346048 NA NA NA NA NA 0.768 NA 3.1998 1332 17 76867185 76867185 G T intronic TIMP2 NA NA NA intronic ENSG00000035862,ENSG00000178404 NA NA NA NA NA 17q25.3 NA NA NA NA rs55743137 0.69 0.69 0.672 0.646166 0.8002 0.5308 0.7939 0.6528 0.4928 0.8 0.55 0.78 0.62 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072565 NA NA NA NA NA 0.659 NA 3.1998 1332 17 25887530 25887530 G C intronic KSR1 NA NA NA intronic ENSG00000141068 NA NA NA NA NA 17q11.2 Score=791;Name=V$ISRE_01 NA NA NA rs2945397 0.6 0.6 0.573 0.582268 0.6233 0.5982 0.696 0.503 0.5501 0.62 0.62 0.66 0.5 0.6026 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.731812 NA NA 0.574335 0.505137 NA 0.493 NA 3.199765 1332 17 73571030 73571030 A G UTR3 LLGL2 NM_004524:c.*43A>G,NM_001031803:c.*71A>G NA NA UTR3 ENSG00000073350 ENST00000167462:c.*43A>G,ENST00000392550:c.*71A>G,ENST00000578638:c.*1863A>G NA NA NA NA 17q25.1 NA NA NA NA rs1042861 0.45 0.45 0.479 0.464657 0.3738 0.2639 0.3386 0.9039 0.2607 0.38 0.22 0.36 0.89 0.3733 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727135 NA NA 0.386512 0.815933 NA 0.478 NA 3.1997214 1332 17 61908316 61908316 G A intronic PSMC5 NA NA NA intronic ENSG00000087191 NA NA NA NA NA 17q23.3 NA NA NA NA rs7220892 0.25 0.25 0.261 0.239816 0.2694 0.0506 0.2032 0.4463 0.1513 0.27 0.05 0.2 0.48 0.2481 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465567 NA NA 0.282907 0.370404 ID=COSN165499;OCCURENCE=1(breast) 0.239 NA 3.199593 1332 4 154191710 154191710 G A intronic TRIM2 NA NA NA intronic ENSG00000109654 NA NA NA NA NA 4q31.3 NA NA NA NA rs1470104 0.18 0.18 0.157 0.183307 0.2714 0.1329 0.1513 0.0295 0.3753 0.29 0.15 0.17 0.04 0.251 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904797 NA NA 0.278023 0.067862 NA 0.232 NA 3.199577 1332 12 124101041 124101041 T G intronic DDX55 NA NA NA intronic ENSG00000111364 NA NA NA NA NA 12q24.31 NA NA NA NA rs56675602 0.23 0.23 0.24 0.251597 0.2664 0.0159 0.2205 0.4425 0.2434 0.27 0.02 0.21 0.46 0.2579 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.577176 1.577176 NA 0.276395 0.41035 NA 0.246 NA 3.199305 1332 15 90172834 90172834 T G intronic KIF7 NA NA NA UTR3 ENSG00000140534 ENST00000561095:c.*270T>G NA NA NA NA 15q26.1 NA NA NA NA rs72750748 0.26 0.26 0.248 0.267173 0.331 0.3958 0.2839 0.0499 0.3507 0.34 0.35 0.25 0.05 0.3031 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721884 NA NA 0.333566 0.086364 NA 0.254 NA 3.1990007 1332 1 76771475 76771475 G T intronic ST6GALNAC3 NA NA NA intronic ENSG00000184005 NA NA NA NA NA 1p31.1 NA NA NA NA rs10782610 0.7 0.7 0.674 0.697484 0.8012 0.7103 0.7781 0.4841 0.8088 0.81 0.69 0.79 0.49 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562934 NA NA NA NA NA 0.717 NA 3.1988 1332 10 81053475 81053475 G A intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1250560 0.47 0.47 0.46 0.474641 0.3668 0.6538 0.4063 0.4342 0.5041 0.37 0.7 0.41 0.4 0.4346 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114961 NA 0.14 NA NA NA 0.362 NA 3.1986 1332 14 77705726 77705726 C T intronic TMEM63C NA NA NA intronic ENSG00000165548 NA NA NA NA NA 14q24.3 NA NA NA NA rs4899646 0.22 0.22 0.199 0.201677 0.2813 0.1597 0.3156 0.1551 0.1452 0.28 0.17 0.3 0.14 0.2465 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5546 NA NA 0.273872 0.163226 NA 0.159 NA 3.198328 1332 17 80828303 80828303 G A intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA NA NA NA rs3744160 0.29 0.29 0.282 0.283347 0.2823 0.4782 0.255 0.1172 0.3282 0.27 0.46 0.28 0.12 0.2673 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245919 NA NA 0.252136 0.129665 NA 0.304 NA 3.198264 1332 12 10147850 10147850 T C intronic CLEC1B NA NA NA intronic ENSG00000165682 NA NA NA NA NA 12p13.2 NA NA NA NA rs521040 0.28 0.28 0.29 0.319688 0.2594 0.2411 0.1888 0.4085 0.4356 0.26 0.22 0.23 0.42 0.2859 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316361 1.316361 NA 0.256548 0.390296 NA 0.362 NA 3.198152 1332 1 17597721 17597721 A G intronic PADI3 NA NA NA intronic ENSG00000142619 NA NA NA NA NA 1p36.13 NA NA NA NA rs4595409 0.28 0.28 0.268 0.295128 0.2684 0.1498 0.2651 0.4259 0.317 0.27 0.15 0.28 0.45 0.2788 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299421 NA NA 0.254829 0.369031 NA 0.29 NA 3.197971 1332 5 33637596 33637596 G A intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs4076945 0.67 0.67 0.662 0.595048 0.8022 0.6587 0.7003 0.3744 0.5399 0.81 0.66 0.73 0.41 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873537 NA NA NA NA NA 0.58 NA 3.1978 1332 6 54095423 54095423 T C intronic MLIP NA NA NA intronic ENSG00000146147 NA NA NA NA NA 6p12.1 NA NA NA NA rs816384 0.69 0.69 0.648 0.660144 0.8022 0.7986 0.7435 0.3056 0.7914 0.81 0.8 0.74 0.33 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.637294 1.637294 NA NA NA NA 0.63 NA 3.1978 1332 22 42073134 42073134 C T intronic NHP2L1 NA NA NA intronic ENSG00000100138 NA NA NA NA NA 22q13.2 NA NA NA NA rs1811113 0.84 0.84 0.876 0.823882 0.8022 0.9365 0.5893 0.9788 0.6871 0.81 0.94 0.58 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622552 NA NA NA NA NA 0.862 NA 3.1978 1332 16 55890398 55890398 G C intronic CES5A NA NA NA intronic ENSG00000159398 NA NA NA NA NA 16q12.2 NA NA NA NA rs9937572 0.36 0.36 0.385 0.414137 0.2634 0.3958 0.2219 0.5832 0.4959 0.27 0.38 0.25 0.57 0.3047 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371233 NA NA 0.234186 0.517061 NA 0.435 NA 3.197714 1332 2 905967 905967 A G intergenic LOC339822,SNTG2 dist=41855;dist=40587 NA NA downstream ENSG00000234796 NA NA NA NA NA 2p25.3 NA Name=PU.1,GABP NA NA rs6711173 0.76 0.76 0.787 0.773363 0.6203 0.9385 0.6931 0.7693 0.8231 0.64 0.95 0.68 0.78 0.6825 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661763 NA NA NA NA NA 0.014 NA 3.1972 1332 16 20168833 20168833 T C intergenic GPR139,GP2 dist=83733;dist=152978 NA NA intergenic ENSG00000180269,ENSG00000263253 dist=83594;dist=51414 NA NA NA NA 16p12.3 NA NA NA NA rs12447858 0.09 0.09 0.076 0.0822684 0.1362 0.001 0.1931 0.0552 0.0685 0.13 NA 0.18 0.06 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009363 NA NA NA NA NA 0.13 NA 3.1971334 1332 19 39299362 39299362 A G intronic LGALS4 NA NA NA intronic ENSG00000171747 NA NA NA NA NA 19q13.2 NA NA NA NA rs1035525 0.34 0.34 0.343 0.384385 0.2376 0.3671 0.3674 0.559 0.3292 0.22 0.3 0.37 0.56 0.3017 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305181 NA NA 0.263837 0.524512 NA 0.384 NA 3.196863 1332 22 50724733 50724733 G T intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs55709850 0.28 0.28 0.27 0.243211 0.2853 0.2887 0.1614 0.3101 0.1207 0.28 0.33 0.17 0.29 0.2515 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071806 NA NA 0.266393 0.292244 NA 0.225 NA 3.196807 1332 8 125155706 125155706 G A intergenic FER1L6,TMEM65 dist=23404;dist=167453 NA NA ncRNA_exonic ENSG00000250727 NA NA NA NA NA 8q24.13 NA NA NA NA rs4316135 0.74 0.74 0.739 0.743411 0.8032 0.6538 0.6599 0.7769 0.7883 0.78 0.69 0.69 0.77 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.955709 NA NA NA NA NA 0.848 NA 3.1968 1332 19 21838351 21838351 A G intergenic ZNF429,ZNF100 dist=117272;dist=68492 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA NA NA NA rs7508059 0.79 0.79 0.76 0.774161 0.8032 0.8958 0.7839 0.584 0.8691 0.81 0.88 0.81 0.63 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.199464 NA 1 NA NA NA 0.848 NA 3.1968 1332 20 60712347 60712347 G A intronic PSMA7 NA NA NA intronic ENSG00000101182 NA NA NA NA NA 20q13.33 NA NA NA NA rs2057168 0.65 0.65 0.625 0.598043 0.8032 0.7728 0.7392 0.143 0.7219 0.81 0.79 0.76 0.16 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534497 NA NA NA NA NA 0.58 NA 3.1968 1332 8 94794620 94794620 C T intronic TMEM67 NA NA NA intronic ENSG00000164953 NA NA NA NA NA 8q22.1 NA NA NA NA rs3097427 0.72 0.72 0.729 0.715056 0.5944 0.8224 0.647 0.8109 0.6472 0.59 0.82 0.65 0.83 0.6341 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064486 NA NA 0.574901 0.76305 NA 0.732 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082681.3;CLNDSDB=.;CLNDSDBID=. 3.196599 1332 19 54743004 54743004 A T intronic LILRA6 NA NA NA intronic ENSG00000170889,ENSG00000204577,ENSG00000244482 NA NA NA NA NA 19q13.42 NA NA NA NA rs8099961 0.3 0.3 0.291 0.334665 0.2763 0.0546 0.2666 0.7209 0.2096 0.25 0.05 0.25 0.7 0.2656 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165226 NA NA 0.262038 0.640661 NA 0.304 NA 3.196062 1332 12 129497958 129497958 T C intergenic GLT1D1,TMEM132D dist=28449;dist=58313 NA NA ncRNA_exonic ENSG00000256581 NA NA NA NA NA 12q24.33 NA NA NA NA rs544209 0.83 0.83 0.832 0.82528 0.8042 0.9127 0.8689 0.7489 0.8292 0.81 0.92 0.85 0.76 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253986 NA NA NA NA NA 0.725 NA 3.1958 1332 12 129498317 129498317 A G intergenic GLT1D1,TMEM132D dist=28808;dist=57954 NA NA ncRNA_intronic ENSG00000256581 NA NA NA NA NA 12q24.33 NA NA NA NA rs519579 0.83 0.83 0.823 0.824681 0.8042 0.9127 0.8689 0.7466 0.8292 0.81 0.92 0.85 0.76 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309971 NA NA NA NA NA 0.732 NA 3.1958 1332 15 42364652 42364652 G A intronic PLA2G4D NA NA NA intronic ENSG00000159337 NA NA NA NA NA 15q15.1 NA NA NA NA rs1668587 0.82 0.82 0.8 0.8123 0.8042 0.8899 0.8646 0.7791 0.7485 0.8 0.88 0.85 0.74 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030628 NA NA NA NA NA 0.754 NA 3.1958 1332 12 85439774 85439774 A G intronic LRRIQ1 NA NA NA intronic ENSG00000133640 NA NA NA NA NA 12q21.31 NA NA NA NA rs2305102 0.21 0.21 0.176 0.206869 0.2604 0.2222 0.3127 0.0446 0.2802 0.26 0.22 0.3 0.05 0.2694 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126964 NA NA 0.275128 0.078338 NA 0.275 NA 3.195072 1333 18 15198343 15198343 G T intergenic ANKRD30B,LOC644669 dist=345606;dist=115212 NA NA upstream ENSG00000265015 NA NA NA NA NA 18p11.21 NA NA NA NA rs35269568 0.19 0.19 0.11 0.244409 0.3052 0.2252 0.1931 0.1006 0.4325 0.26 0.16 0.19 0.11 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122485 NA NA NA NA NA NA NA 3.1948 1333 18 77170006 77170006 C T intronic NFATC1 NA NA NA intronic ENSG00000131196 NA NA NA NA NA 18q23 NA NA NA NA rs182507 0.74 0.74 0.733 0.73103 0.8052 0.9355 0.7536 0.3714 0.9141 0.81 0.95 0.76 0.37 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486469 NA NA NA NA NA 0.703 NA 3.1948 1333 7 35058177 35058177 A G intronic DPY19L1 NA NA NA intronic ENSG00000173852 NA NA NA NA NA 7p14.2 NA NA NA NA rs10282006 0.18 0.18 0.143 0.164337 0.2644 0.1319 0.2248 0.0446 0.2137 0.27 0.14 0.23 0.05 0.2445 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278168 NA NA 0.296483 0.074917 NA 0.21 NA 3.194617 1333 9 139312996 139312996 C T intronic PMPCA NA NA NA intronic ENSG00000165688 NA NA NA NA NA 9q34.3 NA NA NA NA rs10870160 0.2 0.2 0.185 0.197085 0.2734 0.1667 0.3069 0.0613 0.2556 0.27 0.16 0.26 0.07 0.2501 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001053 NA NA 0.281977 0.096232 NA 0.203 NA 3.194523 1333 19 54200922 54200922 T C upstream;downstream MIR523;MIR525 NA NA NA upstream;downstream ENSG00000208016;ENSG00000207711 NA NA NA NA NA 19q13.42 NA NA NA NA rs57056811 0.19 0.19 0.169 0.184904 0.2316 0.0704 0.1686 0.261 0.1636 0.23 0.05 0.19 0.29 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267872 NA NA 0.240729 0.276012 NA 0.232 NA 3.1943376 1333 6 131276473 131276473 A G intronic EPB41L2 NA NA NA intronic ENSG00000079819 NA NA NA NA NA 6q23.2 NA NA NA NA rs45550834 0.59 0.59 NA 0.614217 0.3519 0.9335 0.5058 0.6785 0.545 0.36 0.92 0.44 0.65 0.4541 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709248 NA NA NA NA NA NA NA 3.194 1333 6 168323664 168323664 A G intronic MLLT4 NA NA NA UTR3 ENSG00000130396 ENST00000497596:c.*1A>G NA NA NA NA 6q27 NA NA NA NA rs2301533 0.35 0.35 0.351 0.340256 0.3042 0.6002 0.3329 0.1286 0.4008 0.32 0.59 0.34 0.15 0.3525 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720361 NA NA 0.316163 0.15842 NA 0.232 NA 3.1938037 1333 1 165992288 165992288 T A intergenic UCK2,FAM78B dist=111433;dist=46968 NA NA downstream ENSG00000226292 NA NA NA NA NA 1q24.1 NA NA NA NA rs7512427 0.18 0.18 0.175 0.19988 0.3062 0.0962 0.1859 0.1014 0.3405 0.3 0.09 0.19 0.11 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44452 NA NA NA NA NA 0.181 NA 3.1938 1333 7 144707007 144707007 G C intergenic TPK1,CNTNAP2 dist=173861;dist=1106446 NA NA upstream ENSG00000214035 NA NA NA NA NA 7q35 NA NA NA NA rs10216247 0.24 0.24 0.238 0.232228 0.3062 0.2371 0.1787 0.2186 0.2076 0.31 0.23 0.2 0.19 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98765 NA NA NA NA NA 0.159 NA 3.1938 1333 21 47328990 47328990 T G intronic PCBP3 NA NA NA intronic ENSG00000183570 NA NA NA NA NA 21q22.3 NA NA NA NA rs9976042 0.9 0.9 0.909 0.913938 0.8062 0.997 0.8617 0.966 0.9059 0.8 0.99 0.87 0.95 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011807 NA NA NA NA NA 0.884 NA 3.1938 1333 9 75782510 75782510 G A intronic ANXA1 NA NA NA intronic ENSG00000135046 NA NA NA NA NA 9q21.13 NA NA Name=8 NA rs1342017 0.48 0.48 0.457 0.457069 0.6312 0.1716 0.5288 0.5726 0.365 0.63 0.19 0.55 0.55 0.548 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.381904 1.381904 NA 0.627006 0.568089 NA 0.486 NA 3.193794 1333 10 21112111 21112111 A T intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 NA NA NA NA rs11012353 0.28 0.28 0.198 0.302117 0.2644 0.4613 0.2219 0.18 0.3988 0.25 0.46 0.26 0.14 0.3235 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099186 NA NA 0.218692 0.147112 NA 0.188 NA 3.193408 1333 1 246490452 246490452 G A intronic SMYD3 NA NA NA intronic ENSG00000185420 NA NA NA NA NA 1q44 NA NA Name=9 NA rs3737247 0.47 0.47 0.449 0.432109 0.662 0.1716 0.5144 0.4478 0.3845 0.66 0.18 0.56 0.45 0.5208 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023488 NA NA 0.623837 0.47163 ID=COSN163502;OCCURENCE=1(breast) 0.377 NA 3.193363 1333 11 118952371 118952371 A G UTR3 VPS11 NM_021729:c.*38A>G NA NA UTR3 ENSG00000160695 ENST00000300793:c.*38A>G NA NA NA NA 11q23.3 NA NA NA NA rs4614 0.34 0.34 0.349 0.356829 0.3608 0.2044 0.3343 0.4939 0.3405 0.35 0.17 0.35 0.52 0.3721 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47714 NA NA 0.407314 0.470416 NA 0.428 NA 3.1931194 1333 13 101721029 101721029 T C intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA NA NA rs11616341 0.22 0.22 0.226 0.221246 0.2843 0.0069 0.2032 0.3722 0.1861 0.28 0.01 0.23 0.36 0.2425 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956086 NA NA 0.280116 0.362233 NA 0.29 NA 3.193084 1333 20 47256479 47256479 T C intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA NA NA NA rs4611698 0.28 0.28 0.269 0.296925 0.2614 0.2927 0.3473 0.2073 0.4233 0.26 0.3 0.36 0.22 0.2855 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.375595 1.375595 NA 0.260116 0.215388 NA 0.283 NA 3.192984 1333 13 50299677 50299677 T C intronic KPNA3 NA NA NA intronic ENSG00000102753 NA NA NA NA NA 13q14.2 NA NA NA NA rs2273817 0.17 0.17 0.164 0.173722 0.2763 0.0804 0.2824 0.0862 0.2055 0.27 0.06 0.25 0.09 0.2508 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.722366 3.722366 NA 0.28 0.117794 NA 0.188 NA 3.1929 1333 20 44181723 44181723 A G intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs2294559 0.29 0.29 0.275 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037742 NA NA 0.405575 0.369292 NA 0.413 NA 3.192825 1333 9 21929590 21929590 G T intergenic MTAP,C9orf53 dist=63621;dist=37548 NA NA ncRNA_exonic ENSG00000264801 NA NA NA NA NA 9p21.3 NA NA NA NA rs2188125 0.56 0.56 0.519 0.525759 0.8072 0.4782 0.5159 0.2663 0.6431 0.81 0.46 0.59 0.25 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166369 NA NA NA NA NA 0.551 NA 3.1928 1333 17 48155275 48155275 A T intronic ITGA3 NA NA NA intronic ENSG00000005884 NA NA NA NA NA 17q21.33 NA NA NA NA rs11868159 0.55 0.55 0.554 0.478235 0.8072 0.2232 0.5346 0.4569 0.3916 0.82 0.26 0.6 0.46 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011326 NA NA NA NA NA 0.551 NA 3.1928 1333 2 113877713 113877713 A C intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs878972 0.18 0.18 0.16 0.189696 0.2893 0.1181 0.3199 0.0182 0.3006 0.29 0.11 0.31 0.03 0.2457 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080456 NA NA 0.272442 0.055606 NA 0.239 NA 3.192558 1333 17 51902252 51902252 C T exonic KIF2B NA synonymous SNV KIF2B:NM_032559:exon1:c.C1858T:p.L620L exonic ENSG00000141200 NA synonymous SNV ENSG00000141200:ENST00000268919:exon1:c.C1858T:p.L620L NA NA 17q22 NA NA NA NA rs3826355 0.81 0.81 0.817 0.760184 0.834 0.8145 0.7608 0.789 0.589 0.84 0.8 0.77 0.8 0.7991 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.469903 NA NA 0.841279 0.799818 NA 0.797 NA 3.1922876 1333 6 90468465 90468465 C A intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs6937244 0.87 0.87 0.866 0.828275 0.8082 0.9127 0.8429 0.8812 0.68 0.82 0.92 0.85 0.89 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052473 NA NA NA NA NA 0.804 NA 3.1918 1333 14 90744672 90744672 G A UTR3 NRDE2 NM_017970:c.*8C>T NA NA UTR3 ENSG00000119720 ENST00000354366:c.*8C>T,ENST00000357904:c.*8C>T,ENST00000556189:c.*1981C>T,ENST00000553409:c.*3028C>T NA NA NA NA 14q32.11 NA NA NA NA rs10184 0.34 0.34 0.326 0.319888 0.3887 0.504 0.2954 0.0809 0.3998 0.4 0.51 0.31 0.09 0.3645 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150966 NA NA 0.388721 0.139582 NA 0.304 NA 3.1914124 1333 13 39622075 39622075 T C UTR3 NHLRC3 NM_001017370:c.*12T>C,NM_001012754:c.*12T>C NA NA UTR3 ENSG00000188811 ENST00000470258:c.*12T>C,ENST00000379600:c.*12T>C,ENST00000379599:c.*12T>C NA NA NA NA 13q13.3 NA Name=CTCF NA NA rs9532318 0.83 0.83 0.851 0.836462 0.7058 0.9365 0.67 0.9493 0.8333 0.72 0.95 0.69 0.95 0.7515 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550584 NA NA 0.684646 0.912807 NA 0.739 NA 3.1913874 1333 12 85492094 85492094 C T intronic LRRIQ1 NA NA NA intronic ENSG00000133640 NA NA NA NA NA 12q21.31 NA NA NA NA rs34798402 0.21 0.21 0.175 0.206869 0.2604 0.2222 0.3127 0.0446 0.2802 0.26 0.22 0.31 0.05 0.2778 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266421 NA NA 0.270697 0.076325 NA 0.275 NA 3.191103 1333 3 9972493 9972493 G A intronic IL17RC NA NA NA intronic ENSG00000163702 NA NA NA NA NA 3p25.3 NA NA NA NA rs279545 0.64 0.64 0.607 0.622204 0.8091 0.8462 0.6859 0.1823 0.7485 0.8 0.8 0.68 0.19 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112094 NA NA NA NA NA 0.522 NA 3.1909 1333 12 31242314 31242314 T C intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs2005897 0.48 0.48 0.413 NA NA NA NA NA NA 0.41 0.58 0.46 0.5 0.3881 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317286 NA NA 0.421047 0.498638 NA 0.283 NA 3.190853 1333 9 21929666 21929666 G A intergenic MTAP,C9orf53 dist=63697;dist=37472 NA NA ncRNA_exonic ENSG00000264801 NA NA NA NA NA 9p21.3 NA NA NA NA rs2518713 0.74 0.74 0.776 0.760184 0.8101 0.5357 0.5764 0.9803 0.773 0.82 0.52 0.63 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157344 NA NA NA NA NA 0.775 NA 3.1899 1333 22 45210666 45210666 G A intronic ARHGAP8,PRR5-ARHGAP8 NA NA NA intronic ENSG00000241484,ENSG00000248405 NA NA NA NA NA 22q13.31 NA NA NA NA rs2071758 0.26 0.26 0.246 0.270168 0.2833 0.3234 0.304 0.0991 0.409 0.27 0.37 0.27 0.12 0.2769 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193601 NA NA 0.250116 0.107808 NA 0.232 NA 3.189684 1333 7 142499190 142499190 G A intergenic PRSS3P2,EPHB6 dist=16791;dist=53602 NA NA intronic ENSG00000211772 NA NA NA NA NA 7q34 NA NA NA NA rs374762833 NA NA NA 0.489617 0.4771 0.4851 0.4942 0.4924 0.5 NA NA NA NA NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478169 NA NA NA NA NA 0.152 NA 3.1895667 1333 11 6655332 6655332 T A intronic DCHS1 NA NA NA ncRNA_intronic ENSG00000255410 NA NA NA NA NA 11p15.4 NA NA NA NA rs2659869 0.4 0.4 0.383 0.38738 0.3777 0.4355 0.3718 0.4032 0.3374 0.39 0.46 0.38 0.38 0.3888 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.135171 NA NA 0.377328 0.404589 NA 0.493 NA 3.1895053 1333 19 11031464 11031464 C G intronic CARM1 NA NA NA intronic ENSG00000142453 NA NA NA NA NA 19p13.2 NA NA NA NA rs2288842 0.31 0.31 0.288 0.265176 0.2744 0.5089 0.2565 0.1293 0.1943 0.27 0.57 0.27 0.11 0.272 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.97942 NA NA 0.264302 0.143668 NA 0.261 NA 3.189298 1333 19 54203199 54203199 G A upstream MIR518F NA NA NA upstream ENSG00000207706 NA NA NA NA NA 19q13.42 NA NA NA NA rs2116850 0.26 0.26 0.254 0.265974 0.2356 0.0704 0.1859 0.556 0.1636 0.23 0.05 0.2 0.59 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959488 NA NA 0.241986 0.536127 NA 0.319 NA 3.1890806 1333 19 54733038 54733038 C G intergenic LILRB3,LILRA6 dist=6079;dist=7431 NA NA ncRNA_exonic ENSG00000235081 NA NA NA NA NA 19q13.42 NA NA NA NA rs11084324 0.71 0.71 0.675 0.677915 0.8111 0.7341 0.719 0.4077 0.819 0.84 0.72 0.77 0.45 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378631 NA NA NA NA NA 0.652 NA 3.1889 1333 6 139229743 139229743 C T intronic REPS1 NA NA NA intronic ENSG00000135597 NA NA NA NA NA 6q24.1 NA NA NA NA rs1188868 0.8 0.8 0.798 0.811302 0.8111 0.6389 0.866 0.947 0.7669 0.81 0.64 0.85 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550263 NA NA NA NA NA 0.906 NA 3.1889 1333 6 139265279 139265279 C T intronic REPS1 NA NA NA intronic ENSG00000135597 NA NA NA NA NA 6q24.1 NA NA NA NA rs1188898 0.8 0.8 0.789 0.807907 0.8111 0.628 0.866 0.944 0.7648 0.81 0.63 0.85 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150204 NA NA NA NA NA 0.906 NA 3.1889 1333 14 24791136 24791136 A G intronic ADCY4 NA NA NA intronic ENSG00000129467 NA NA NA NA NA 14q12 NA NA NA NA rs4981504 0.84 0.84 0.867 0.852636 0.8111 0.996 0.6455 0.8578 0.8875 0.8 0.99 0.69 0.86 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05297 NA NA NA NA NA 0.862 NA 3.1889 1333 4 79305177 79305177 T G intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs7677133 0.23 0.23 0.199 0.212859 0.2714 0.2173 0.3458 0.118 0.182 0.27 0.22 0.32 0.13 0.2659 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.601373 4.601373 NA 0.274107 0.150517 NA 0.268 NA 3.188593 1333 19 11348098 11348098 G A intronic DOCK6 NA NA NA intronic ENSG00000130158 NA NA NA NA NA 19p13.2 NA NA NA NA rs34301174 0.2 0.2 0.194 0.222843 0.2853 0.2272 0.2363 0.0234 0.4141 0.28 0.21 0.21 0.04 0.2584 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504396 NA NA 0.26784 0.058432 NA 0.13 NA 3.18846 1333 22 44324676 44324676 A G intronic PNPLA3 NA NA NA intronic ENSG00000100344 NA NA NA NA NA 22q13.31 NA NA Name=7 NA rs139051 0.52 0.52 0.531 0.516374 0.6113 0.374 0.4049 0.615 0.5112 0.6 0.37 0.45 0.63 0.5668 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40799 NA NA 0.633488 0.58965 NA 0.609 NA 3.188412 1333 14 106791119 106791119 A G intergenic LINC00226,LINC00221 dist=46153;dist=147336 NA NA exonic ENSG00000211953 NA synonymous SNV ENSG00000211953:ENST00000390613:exon2:c.T237C:p.Y79Y NA NA 14q32.33 NA NA NA NA rs3181492 NA NA 0.408 0.51238 0.4095 0.5764 0.4236 0.5968 0.501 NA NA NA NA 0.4685 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.053391 NA NA 0.433595 0.605558 NA 0.065 NA 3.188405 1333 5 142393562 142393562 G A intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA NA NA 5q31.3 NA NA NA NA rs3822397 0.64 0.64 0.644 0.611022 0.8121 0.2778 0.6758 0.73 0.5409 0.8 0.27 0.73 0.78 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338526 NA NA NA NA NA 0.746 NA 3.1879 1333 21 47544454 47544454 C T intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs369935000 NA NA NA 0.743011 0.8121 0.8621 0.8919 0.6551 0.5624 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002614 NA NA NA NA NA NA NA 3.1879 1333 19 35835940 35835940 C T intronic CD22 NA NA NA intronic ENSG00000012124 NA NA NA NA NA 19q13.12 NA NA NA NA rs45453699 0.32 0.32 0.295 0.332668 0.2644 0.2698 0.4193 0.4297 0.2751 0.26 0.27 0.38 0.41 0.2795 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959593 NA NA 0.268256 0.418974 NA 0.362 NA 3.187844 1333 11 5593467 5593467 A G intergenic OR52H1,OR52B6 dist=26714;dist=8640 NA NA intronic ENSG00000196565 NA NA NA NA NA 11p15.4 NA NA NA NA rs3910245 0.71 0.71 0.742 0.740216 0.4791 0.9802 0.6715 0.8268 0.6933 0.48 0.97 0.63 0.82 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947814 NA NA NA NA NA 0.659 NA 3.1875667 1333 4 160251449 160251449 A G intronic RAPGEF2 NA NA NA intronic ENSG00000109756 NA NA NA NA NA 4q32.1 NA NA NA NA rs55734414 0.33 0.33 0.052 0.484625 0.5378 0.371 0.4986 0.5356 0.4683 0.43 0.06 0.42 0.42 0.1401 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891179 NA NA 0.135132 0.160714 NA 0.036 NA 3.186968 1333 3 184071019 184071019 T C intronic CLCN2 NA NA NA intronic ENSG00000114859,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs11920716 0.17 0.17 0.157 0.188898 0.2873 0.0516 0.2003 0.1649 0.2536 0.26 0.02 0.27 0.14 0.2352 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.711653 2.711653 NA 0.290581 0.172719 NA 0.036 NA 3.186919 1333 2 175318396 175318396 G A intronic GPR155 NA NA NA intronic ENSG00000163328 NA NA NA NA NA 2q31.1 NA NA NA NA rs12614979 NA NA NA 0.649561 0.8131 0.4673 0.598 0.6611 0.6902 NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863887 NA NA NA NA NA 0.167 NA 3.1869 1333 10 7769604 7769604 A G intronic ITIH2 NA NA NA intronic ENSG00000151655 NA NA NA NA NA 10p14 NA NA NA NA rs2277226 0.78 0.78 0.748 0.731629 0.8131 0.6984 0.8718 0.7337 0.5798 0.81 0.72 0.86 0.72 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468876 NA NA NA NA NA 0.775 NA 3.1869 1333 11 3436492 3436492 A G intergenic LOC650368,TRPC2 dist=6114;dist=211198 NA NA ncRNA_exonic ENSG00000166492 NA NA NA NA NA 11p15.4 NA NA NA NA rs6578351 0.87 0.87 0.883 0.904553 0.8131 0.9831 0.8804 0.9372 0.8906 0.79 0.97 0.83 0.91 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.447117 NA NA NA NA NA 0.29 NA 3.1869 1333 13 46104663 46104663 C T intronic COG3 NA NA NA intronic ENSG00000136152 NA NA NA NA NA 13q14.13 NA NA NA NA rs2404217 0.85 0.85 0.837 0.846645 0.8131 0.881 0.8818 0.82 0.8569 0.82 0.9 0.87 0.81 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147876 NA NA NA NA NA 0.819 NA 3.1869 1333 13 95714858 95714858 A C intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA NA NA NA rs1751033 0.79 0.79 0.736 0.813498 0.8131 0.7847 0.7622 0.7995 0.8988 0.81 0.75 0.79 0.8 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530503 NA NA NA NA NA 0.833 NA 3.1869 1333 20 31622839 31622839 T C intronic BPIFB6 NA NA NA intronic ENSG00000167104 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059033 0.53 0.53 0.526 NA NA NA NA NA NA 0.39 0.71 0.45 0.6 0.437 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.354155 1.354155 NA 0.376395 0.559918 NA 0.522 NA 3.186605 1333 20 18506617 18506617 G A intronic SEC23B NA NA NA intronic ENSG00000101310 NA NA NA NA NA 20p11.23 NA NA NA NA rs1555353 0.2 0.2 0.192 0.253195 0.3907 0.1409 0.2968 0.1891 0.2832 0.28 0.12 0.28 0.12 0.3071 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354079 NA NA 0.115698 0.069451 NA NA NA 3.186502 1333 19 55605694 55605694 A G intronic PPP1R12C NA NA NA intronic ENSG00000125503 NA NA NA NA NA 19q13.42 NA NA NA NA rs3803898 0.46 0.46 0.356 0.444688 0.4026 0.5546 0.4827 0.4395 0.3548 0.4 0.56 0.46 0.44 0.0003 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365458 NA NA 0.410698 0.433727 NA 0.094 NA 3.186402 1333 2 10566804 10566804 A G intronic HPCAL1 NA NA NA intronic ENSG00000115756 NA NA NA NA NA 2p25.1 NA NA NA NA rs2270307 0.17 0.17 0.176 0.173123 0.2833 0.0446 0.1599 0.1702 0.2055 0.26 0.03 0.17 0.19 0.2365 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.727586 NA NA 0.293837 0.186564 NA 0.261 NA 3.186363 1333 10 71703995 71703995 A G intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA NA NA 10q22.1 NA NA NA NA rs3750780 0.38 0.38 0.373 0.397963 0.3897 0.3552 0.4049 0.3828 0.4663 0.39 0.36 0.4 0.37 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442258 NA NA 0.424261 0.381503 NA 0.507 NA 3.186039 1333 1 16528233 16528233 G A intronic ARHGEF19 NA NA NA intronic ENSG00000142632 NA NA NA NA NA 1p36.13 NA NA NA NA rs221037 0.26 0.26 0.236 0.302117 0.2634 0.1508 0.4207 0.2943 0.4243 0.27 0.13 0.37 0.29 0.2948 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697398 NA NA 0.255814 0.277576 NA 0.29 NA 3.185986 1333 2 159731466 159731466 A G intergenic DAPL1,TANC1 dist=58970;dist=93680 NA NA ncRNA_exonic ENSG00000188668 NA NA NA NA NA 2q24.1 NA NA NA NA rs10186922 0.49 0.49 0.467 0.453075 0.8141 0.1181 0.5101 0.2837 0.6155 0.81 0.12 0.61 0.32 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316409 NA NA NA NA NA 0.514 NA 3.1859 1333 12 96104138 96104138 T C intronic NTN4 NA NA NA intronic ENSG00000074527 NA NA NA NA NA 12q22 NA NA NA NA rs2254316 0.8 0.8 0.813 0.817692 0.8141 0.8423 0.6974 0.8298 0.865 0.81 0.82 0.71 0.81 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546698 NA NA NA NA NA 0.812 NA 3.1859 1333 3 97783546 97783546 A G intergenic GABRR3,OR5AC2 dist=29398;dist=22471 NA NA exonic ENSG00000213439 NA unknown UNKNOWN NA NA 3q11.2 NA NA NA NA rs1873627 0.51 0.51 0.522 0.502596 0.4493 0.4931 0.5346 0.5598 0.4673 0.46 0.5 0.51 0.59 0.5317 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.023589 2.023589 NA NA NA NA 0.536 NA 3.1856667 1333 4 88052219 88052219 T C intronic AFF1 NA NA NA intronic ENSG00000172493 NA NA NA NA NA 4q22.1 NA Name=ERalpha_a,GR NA NA rs342467 0.59 0.59 0.552 0.567292 0.6083 0.6002 0.6715 0.5378 0.4571 0.58 0.59 0.68 0.52 0.5937 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477604 NA NA 0.612558 0.554017 NA 0.71 NA 3.185442 1333 14 24526478 24526478 A G intronic LRRC16B NA NA NA intronic ENSG00000186648 NA NA NA NA NA 14q11.2 NA NA NA NA rs12879859 0.28 0.28 0.27 0.282548 0.2525 0.4196 0.2017 0.2073 0.3313 0.26 0.44 0.2 0.19 0.2836 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48785 NA NA 0.278488 0.214934 ID=COSN164643;OCCURENCE=1(NS) 0.341 NA 3.185412 1333 19 49632309 49632309 T C intronic PPFIA3 NA NA NA intronic ENSG00000177380 NA NA NA NA NA 19q13.33 NA NA Name=3 NA rs4802566 0.6 0.6 0.61 0.61861 0.5994 0.253 0.5893 0.9682 0.5634 0.6 0.25 0.66 0.96 0.6016 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024094 NA NA 0.613721 0.903541 NA 0.659 NA 3.185279 1333 5 6602668 6602668 G C intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs2303710 0.38 0.38 0.384 0.380391 0.4185 0.2083 0.4078 0.5371 0.2873 0.4 0.2 0.42 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773645 NA NA 0.396292 0.531069 NA 0.486 NA 3.185208 1333 11 117332343 117332343 C T intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs2298766 0.24 0.24 0.222 0.224441 0.2684 0.2679 0.2262 0.1104 0.2873 0.27 0.29 0.24 0.15 0.259 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.639385 2.639385 NA 0.287477 0.146524 NA 0.181 NA 3.185123 1333 3 182947413 182947413 C G intronic MCF2L2 NA NA NA intronic ENSG00000053524 NA NA NA NA NA 3q27.1 NA NA NA NA rs1122143 0.23 0.23 0.228 0.240815 0.2724 0.244 0.2219 0.1256 0.3742 0.28 0.26 0.22 0.14 0.2657 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424188 NA NA 0.27686 0.140554 NA 0.196 NA 3.18504 1334 1 206626779 206626779 A G intronic SRGAP2 NA NA NA intronic ENSG00000163486 NA NA NA NA NA 1q32.1 NA NA NA NA rs2483059 0.66 0.66 0.687 0.672324 0.8151 0.3552 0.6297 0.7859 0.729 0.81 0.34 0.69 0.79 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897721 NA NA NA NA NA 0.754 NA 3.1849 1334 7 103162370 103162370 C T intronic RELN NA NA NA intronic ENSG00000189056 NA NA NA NA NA 7q22.1 NA NA NA NA rs10282605 0.76 0.76 0.745 0.747604 0.8151 0.751 0.8256 0.5809 0.8446 0.8 0.73 0.81 0.66 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095138 NA NA NA NA NA 0.812 NA 3.1849 1334 7 128409225 128409225 A G UTR3 CALU NM_001199671:c.*4A>G,NM_001219:c.*4A>G,NM_001199673:c.*77A>G,NM_001199672:c.*4A>G,NM_001130674:c.*4A>G NA NA UTR3 ENSG00000128595 ENST00000538546:c.*4A>G,ENST00000535623:c.*726A>G,ENST00000542996:c.*4A>G,ENST00000535011:c.*77A>G,ENST00000249364:c.*4A>G,ENST00000449187:c.*4A>G,ENST00000479257:c.*4A>G,ENST00000493278:c.*4A>G NA NA NA NA 7q32.1 NA NA NA NA rs1043550 0.23 0.23 0.212 0.190895 0.4175 0.0675 0.2378 0.1135 0.1564 0.41 0.06 0.27 0.13 0.3214 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751833 NA NA 0.409651 0.149115 ID=COSN168196;OCCURENCE=1(large_intestine) 0.246 NA 3.1847824 1334 11 1213004 1213004 T C intergenic MUC2,MUC5B dist=108587;dist=31291 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=50643;dist=31292 NA NA NA NA 11p15.5 NA NA NA NA rs112704799 NA NA 0.329 NA NA NA NA NA NA NA NA NA NA 0.1488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533854 NA NA NA NA NA NA NA 3.1845334 1334 2 86315741 86315741 C T exonic POLR1A NA synonymous SNV POLR1A:NM_015425:exon6:c.G678A:p.T226T exonic ENSG00000068654 NA synonymous SNV ENSG00000068654:ENST00000263857:exon6:c.G678A:p.T226T,ENSG00000068654:ENST00000409681:exon6:c.G678A:p.T226T NA NA 2p11.2 NA NA NA NA rs2288120 0.67 0.67 0.643 0.657947 0.84 0.6567 0.8228 0.3139 0.82 0.84 0.67 0.84 0.28 0.7948 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255894 1.255894 NA 0.847561 0.421415 NA 0.674 NA 3.1843056 1334 18 14475682 14475682 C T intergenic CYP4F35P,CXADRP3 dist=133159;dist=2272 NA NA intergenic ENSG00000266605,ENSG00000265766 dist=24800;dist=2272 NA NA NA NA 18p11.21 NA NA NA NA rs62080658 0.22 0.22 0.195 0.223642 0.1491 0.4742 0.2464 0.0734 0.229 0.13 0.46 0.24 0.07 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933307 NA NA NA NA NA 0.217 NA 3.1842334 1334 2 25610287 25610287 G T intronic DTNB NA NA NA intronic ENSG00000138101 NA NA NA NA NA 2p23.3 NA NA NA NA rs66917623 0.16 0.16 0.137 0.160942 0.2922 0.0327 0.1945 0.0598 0.271 0.27 0.04 0.22 0.08 0.2428 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560896 NA NA 0.280841 0.099816 NA 0.246 NA 3.184159 1334 3 141923506 141923506 C T intronic GK5 NA NA NA exonic ENSG00000175066 NA nonsynonymous SNV ENSG00000175066:ENST00000487672:exon4:c.G442A:p.V148I NA NA 3q23 NA NA NA NA rs9830411 0.64 0.64 0.649 0.592452 0.659 0.5308 0.6499 0.6641 0.4499 0.67 0.55 0.68 0.69 0.6362 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643407 NA NA 0.687704 0.670981 NA 0.594 NA 3.1837627 1334 3 46717065 46717065 C G intronic ALS2CL NA NA NA UTR3 ENSG00000178038 ENST00000450172:c.*3262G>C,ENST00000431015:c.*3105G>C,ENST00000423707:c.*1736G>C NA NA NA NA 3p21.31 NA NA NA NA rs7635360 0.3 0.3 0.264 0.308307 0.332 0.3671 0.3228 0.1415 0.4387 0.34 0.36 0.31 0.16 0.3327 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238209 NA NA 0.318256 0.188833 NA 0.261 NA 3.1837107 1334 5 98192465 98192465 T C intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q15 NA NA NA NA rs692832 0.29 0.29 0.3 0.283147 0.2773 0.0427 0.2334 0.6029 0.1401 0.27 0.05 0.27 0.61 0.266 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.315827 NA NA 0.273248 0.525712 NA 0.341 NA 3.183452 1334 18 77135472 77135472 A G intronic ATP9B NA NA NA intronic ENSG00000166377 NA NA NA NA NA 18q23 NA NA NA NA rs2280058 0.29 0.29 0.291 0.28115 0.2634 0.4921 0.2032 0.0681 0.4254 0.27 0.53 0.23 0.08 0.2842 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77943 NA NA 0.269132 0.09941 NA 0.232 NA 3.183268 1334 17 8051639 8051639 A G intronic PER1 NA NA NA intronic ENSG00000179094 NA NA NA NA NA 17p13.1 NA NA NA NA rs10462024 0.28 0.28 0.255 0.29992 0.4036 0.1677 0.2406 0.1762 0.5389 0.41 0.19 0.27 0.2 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.531056 2.531056 NA 0.413262 0.229769 NA 0.159 NA 3.183138 1334 3 53205494 53205494 G A intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA rs3773727 0.79 0.79 0.792 0.769569 0.8171 0.752 0.7666 0.7943 0.7076 0.81 0.8 0.77 0.77 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035897 NA NA NA NA NA 0.848 NA 3.1829 1334 7 813618 813618 T C intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA NA NA NA rs4719279 0.74 0.74 0.721 0.746605 0.8171 0.62 0.7767 0.6936 0.8548 0.8 0.63 0.74 0.75 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820249 NA NA NA NA NA 0.667 NA 3.1829 1334 10 105799599 105799599 C A intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q24.33 NA NA NA NA rs11191905 0.72 0.72 0.689 0.685903 0.8171 0.8234 0.7695 0.4183 0.7117 0.81 0.85 0.78 0.4 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511245 NA NA NA NA NA 0.732 NA 3.1829 1334 15 42134301 42134301 A C intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1648835 0.77 0.77 0.746 0.755591 0.8171 0.881 0.8228 0.5749 0.7597 0.82 0.87 0.81 0.53 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182284 NA NA NA NA NA 0.659 NA 3.1829 1334 15 42137576 42137576 C T intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1648828 0.76 0.76 0.724 0.752796 0.8171 0.877 0.8228 0.5673 0.7597 0.82 0.87 0.81 0.52 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290196 NA NA NA NA NA 0.659 NA 3.1829 1334 15 42137581 42137581 A C intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1648827 0.76 0.76 0.718 0.753395 0.8171 0.88 0.8228 0.5673 0.7597 0.82 0.87 0.81 0.52 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373445 NA NA NA NA NA 0.667 NA 3.1829 1334 10 97816420 97816420 G A ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_intronic ENSG00000226688 NA NA NA NA NA 10q24.1 NA NA NA NA rs7099399 0.57 0.57 0.58 0.585663 0.4602 0.8016 0.5663 0.5 0.6217 0.45 0.79 0.51 0.56 0.532 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.421756 1.421756 NA 0.492202 0.509132 NA 0.42 NA 3.1822646 1334 1 11740358 11740358 A G intronic MAD2L2 NA NA NA intronic ENSG00000116670 NA NA NA NA NA 1p36.22 NA NA NA NA rs7417320 0.43 0.43 0.43 0.436502 0.4026 0.4256 0.513 0.4039 0.4724 0.42 0.39 0.47 0.46 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292173 NA NA 0.415369 0.420091 NA 0.471 NA 3.182031 1334 5 1214264 1214264 A G intronic SLC6A19 NA NA NA intronic ENSG00000174358 NA NA NA NA NA 5p15.33 NA NA NA NA rs6554663 0.74 0.74 0.742 0.74381 0.8181 0.5595 0.7507 0.8109 0.7618 0.81 0.55 0.8 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426158 NA NA NA NA NA 0.696 NA 3.1819 1334 12 52711624 52711624 C T intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2857666 0.36 0.36 0.357 0.376597 0.4105 0.1885 0.3213 0.5008 0.407 0.4 0.19 0.34 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229207 NA NA 0.40792 0.497832 NA 0.428 NA 3.18158 1334 4 37592674 37592674 T C UTR3 C4orf19,RELL1 NM_001104629:c.*52T>C,NM_018302:c.*52T>C;NM_001085399:c.*169A>G NA NA UTR3 ENSG00000154274,ENSG00000181826 ENST00000381980:c.*52T>C,ENST00000284437:c.*52T>C;ENST00000314117:c.*169A>G NA NA NA NA 4p14 NA NA Name=3 NA rs937941 0.54 0.54 0.547 0.494808 0.7584 0.4315 0.4755 0.3457 0.5041 0.75 0.45 0.5 0.34 0.6485 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.73369 NA NA 0.744911 0.433685 NA 0.587 NA 3.1815224 1334 4 6374468 6374468 T C intronic PPP2R2C NA NA NA intronic ENSG00000074211 NA NA NA NA NA 4p16.1 NA NA NA NA rs12511721 0.32 0.32 0.269 0.347444 0.2296 0.3611 0.389 0.3918 0.365 0.22 0.4 0.37 0.35 0.321 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668649 NA NA 0.268023 0.375624 NA 0.377 NA 3.181377 1334 11 49007698 49007698 A T intergenic OR4A47,TRIM49B dist=496424;dist=45454 NA NA ncRNA_exonic ENSG00000254764 NA NA NA NA NA 11p11.12 NA NA NA NA rs1910835 0.75 0.75 0.753 0.708267 0.8191 0.5972 0.7622 0.8101 0.5327 0.79 0.63 0.78 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606412 NA NA NA NA NA 0.761 NA 3.1809 1334 8 2053942 2053942 T C intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs12680413 0.77 0.77 0.767 0.781949 0.8191 0.7212 0.7911 0.7595 0.8303 0.82 0.72 0.75 0.77 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659687 NA NA NA NA NA 0.79 NA 3.1809 1334 11 6243982 6243982 T G intronic FAM160A2 NA NA NA intronic ENSG00000051009 NA NA NA NA NA 11p15.4 NA NA NA NA rs325606 0.8 0.8 0.779 0.781749 0.8191 0.9593 0.8343 0.5401 0.8497 0.81 0.96 0.86 0.58 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738024 NA NA NA NA NA 0.833 NA 3.1809 1334 15 42528676 42528676 C T intronic TMEM87A NA NA NA intronic ENSG00000103978 NA NA NA NA NA 15q15.1 NA NA NA NA rs1679012 0.61 0.61 0.594 0.530751 0.8191 0.8185 0.4726 0.0416 0.6401 0.84 0.84 0.53 0.06 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400436 NA NA NA NA NA 0.58 NA 3.1809 1334 6 119611989 119611989 A T intronic MAN1A1 NA NA NA intronic ENSG00000111885 NA NA NA NA NA 6q22.31 NA NA NA NA rs9489671 0.32 0.32 0.318 0.292532 0.4225 0.123 0.2795 0.3986 0.1994 0.43 0.12 0.32 0.41 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.254277 1.254277 NA 0.396901 0.393786 NA 0.348 NA 3.180599 1334 12 11461470 11461470 A G exonic PRB4 NA synonymous SNV PRB4:NM_002723:exon3:c.T447C:p.G149G exonic ENSG00000230657 NA synonymous SNV ENSG00000230657:ENST00000279575:exon3:c.T447C:p.G149G,ENSG00000230657:ENST00000535904:exon3:c.T447C:p.G149G NA NA 12p13.2 NA NA NA NA rs1052807 0.74 0.74 0.737 0.755391 0.8499 0.8095 0.8429 0.6218 0.7209 0.82 0.77 0.81 0.55 0.8079 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616436 NA NA 0.828289 0.684294 NA 0.674 NA 3.1805776 1334 2 113887273 113887273 G A intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs446433 0.18 0.18 0.151 0.191693 0.2922 0.0942 0.3314 0.0333 0.3037 0.29 0.08 0.33 0.04 0.2492 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656589 NA NA 0.278372 0.064231 NA 0.246 NA 3.180228 1334 8 124664873 124664873 A G exonic KLHL38 NA synonymous SNV KLHL38:NM_001081675:exon1:c.T294C:p.H98H exonic ENSG00000175946 NA synonymous SNV ENSG00000175946:ENST00000325995:exon1:c.T294C:p.H98H NA NA 8q24.13 NA NA NA NA rs7387792 0.63 0.63 0.742 0.727636 0.8579 0.7113 0.7118 0.6694 0.7004 0.72 0.61 0.67 0.5 0.7903 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.870856 NA NA 0.83846 0.713972 NA NA NA 3.1800066 1334 3 186015743 186015743 C T intronic DGKG NA NA NA intronic ENSG00000058866 NA NA NA NA NA 3q27.3 NA NA NA NA rs888385 0.66 0.66 0.105 0.695088 0.8201 0.5327 0.7507 0.7027 0.684 0.76 0.49 0.75 0.66 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179532 NA NA NA NA NA NA NA 3.1799 1334 3 186015744 186015744 G C intronic DGKG NA NA NA intronic ENSG00000058866 NA NA NA NA NA 3q27.3 NA NA NA NA rs66460112 0.66 0.66 0.123 0.704473 0.8201 0.5327 0.7507 0.7073 0.726 0.76 0.49 0.75 0.66 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652041 NA NA NA NA NA NA NA 3.1799 1334 9 137321156 137321156 A G intronic RXRA NA NA NA intronic ENSG00000186350 NA NA NA NA NA 9q34.2 NA NA NA NA rs1536475 0.82 0.82 0.844 0.816693 0.8201 0.7589 0.7911 0.9803 0.6697 0.82 0.75 0.76 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590379 NA NA NA NA NA 0.877 NA 3.1799 1334 15 43075531 43075531 C T intronic TTBK2 NA NA NA intronic ENSG00000128881 NA NA NA NA NA 15q15.2 NA NA NA NA rs9920092 0.77 0.77 0.782 0.801318 0.8201 0.8353 0.6715 0.7663 0.8865 0.82 0.8 0.7 0.72 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636383 NA NA NA NA NA 0.688 NA 3.1799 1334 2 113887262 113887262 C T intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs423904 0.18 0.18 0.155 0.191693 0.2922 0.0942 0.3314 0.0333 0.3037 0.29 0.08 0.33 0.04 0.2492 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058759 NA NA 0.278721 0.064231 NA 0.246 NA 3.179879 1334 4 74453691 74453691 T C intronic RASSF6 NA NA NA intronic ENSG00000169435 NA NA NA NA NA 4q13.3 NA NA NA NA rs10011419 0.25 0.25 0.214 0.262181 0.2833 0.1141 0.4712 0.2716 0.2321 0.28 0.11 0.41 0.25 0.2622 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104137 NA NA 0.274843 0.291326 NA 0.275 NA 3.179657 1334 17 76495050 76495050 C T ncRNA_exonic LOC100996295 NA NA NA ncRNA_exonic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA Name=10 NA rs691291 0.9 0.9 0.895 0.915535 0.8131 0.9702 0.8934 0.9395 0.9479 0.83 0.97 0.86 0.93 0.863 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187988 NA NA 0.810993 0.924533 NA 0.935 NA 3.1795736 1334 11 44401323 44401323 G T intergenic ALX4,CD82 dist=69607;dist=185818 NA NA intergenic ENSG00000052850,ENSG00000255451 dist=69607;dist=88691 NA NA NA NA 11p11.2 NA NA NA NA rs55635812 0.07 0.07 0.042 0.0601038 0.1541 0.004 0.1081 0.0121 0.0521 0.14 0.0017 0.11 0.01 NA 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919901 NA NA NA NA NA NA NA 3.1792334 1334 6 129796620 129796620 C T intronic LAMA2 NA NA NA intronic ENSG00000196569 NA NA NA NA NA 6q22.33 NA NA NA NA rs7741996 0.4 0.4 0.4 0.408347 0.4105 0.2956 0.3804 0.4887 0.4335 0.42 0.28 0.37 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635596 NA NA 0.410434 0.453035 NA 0.391 NA 3.179066 1334 19 48525379 48525379 T C intronic ELSPBP1 NA NA NA intronic ENSG00000169393 NA NA NA NA NA 19q13.33 NA NA NA NA rs11671666 0.18 0.18 0.184 0.173323 0.2913 0.0278 0.1599 0.1853 0.1953 0.28 0.03 0.17 0.2 0.2383 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060667 NA NA 0.291395 0.223105 NA 0.362 NA 3.179005 1334 1 55524116 55524116 C T intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs585131 0.86 0.86 0.852 0.869209 0.8211 0.9881 0.8948 0.7746 0.9059 0.82 0.98 0.88 0.79 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055501 NA NA NA NA NA 0.884 NA 3.1789 1334 11 48534327 48534327 T C intergenic OR4A47,TRIM49B dist=23053;dist=518825 NA NA ncRNA_exonic ENSG00000254832 NA NA NA NA NA 11p11.2 NA NA NA NA rs10732504 0.74 0.74 0.698 0.695088 0.8211 0.6062 0.7594 0.7421 0.5481 0.82 0.65 0.79 0.71 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253111 NA NA NA NA NA 0.754 NA 3.1789 1334 1 156287360 156287360 C T intronic CCT3 NA NA NA intronic ENSG00000163468 NA NA NA NA NA 1q22 NA NA NA NA rs2249790 0.25 0.25 0.25 0.235224 0.2992 0.2619 0.1758 0.1936 0.2403 0.3 0.28 0.2 0.18 0.2557 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085923 NA NA 0.266744 0.224694 NA 0.167 NA 3.178356 1334 17 61958669 61958669 G T intronic GH2 NA NA NA intronic ENSG00000136487 NA NA NA NA NA 17q23.3 NA NA NA NA rs2006123 0.32 0.32 0.361 0.337061 0.2674 0.0486 0.2291 0.8033 0.1524 0.26 0.05 0.23 0.79 0.2764 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054465 NA NA 0.278204 0.699318 ID=COSN165501;OCCURENCE=1(NS) 0.319 NA 3.177996 1334 20 42264726 42264726 T C intronic IFT52 NA NA NA intronic ENSG00000101052 NA NA NA NA NA 20q13.12 NA NA NA NA rs2273523 0.77 0.77 0.749 0.763778 0.8221 0.7937 0.8012 0.6641 0.7812 0.82 0.77 0.81 0.66 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854204 NA NA NA NA NA 0.761 NA 3.1779 1334 9 35707054 35707054 C T intronic TLN1 NA NA NA intronic ENSG00000137076 NA NA NA NA NA 9p13.3 NA NA NA NA rs741917 0.2 0.2 0.18 0.221645 0.2744 0.0496 0.3458 0.2012 0.2843 0.27 0.05 0.33 0.16 0.2637 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.837323 NA NA 0.284302 0.198593 NA 0.261 NA 3.177598 1334 6 29786028 29786028 A G intergenic LOC554223,HLA-G dist=20444;dist=8728 NA NA intergenic ENSG00000237042,ENSG00000204632 dist=5555;dist=8716 NA NA NA NA 6p22.1 NA NA NA NA rs7742733 0.26 0.26 0.25 0.292931 0.1561 0.4891 0.2089 0.2413 0.3609 0.15 0.49 0.23 0.19 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.010225 NA NA NA NA NA 0.312 NA 3.1772334 1334 8 82751822 82751822 T G intronic SNX16 NA NA NA intronic ENSG00000104497 NA NA NA NA NA 8q21.13 NA NA NA NA rs1814534 0.27 0.27 0.259 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 0.2994 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.080347 NA NA 0.257093 0.142533 NA 0.217 NA 3.177107 1334 1 22172458 22172458 T C intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs7355045 0.76 0.76 0.78 0.758586 0.8231 0.8085 0.6758 0.6528 0.8425 0.81 0.81 0.68 0.68 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129036 NA NA NA NA NA 0.681 NA 3.1769 1334 2 29226872 29226872 A G intronic FAM179A NA NA NA intronic ENSG00000189350 NA NA NA NA NA 2p23.2 NA NA NA NA rs13028837 0.68 0.68 0.669 0.652356 0.8231 0.6687 0.7709 0.4319 0.6738 0.8 0.65 0.79 0.46 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714103 NA NA NA NA NA 0.732 NA 3.1769 1334 11 2357108 2357108 C G intergenic TSPAN32,CD81 dist=17678;dist=41439 NA NA ncRNA_intronic ENSG00000238184 NA NA NA NA NA 11p15.5 NA NA NA NA rs2173888 0.69 0.69 0.683 0.697684 0.8231 0.4554 0.7695 0.6641 0.8129 0.83 0.44 0.79 0.68 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973587 NA NA NA NA NA 0.783 NA 3.1769 1334 14 51712092 51712092 T C intronic TMX1 NA NA NA UTR3 ENSG00000139921 ENST00000556683:c.*12T>C NA NA NA NA 14q22.1 NA NA NA NA rs4606635 0.26 0.26 0.243 0.244209 0.3211 0.0437 0.3963 0.2905 0.2014 0.35 0.03 0.35 0.31 0.3302 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.021912 4.021912 NA 0.338796 0.257872 NA 0.232 NA 3.1765707 1334 17 61766880 61766880 C A intronic MAP3K3 NA NA NA intronic ENSG00000198909 NA NA NA NA NA 17q23.3 NA NA NA NA rs1877316 0.24 0.24 0.25 0.230631 0.2654 0.0496 0.2003 0.4198 0.1472 0.26 0.05 0.2 0.44 0.2807 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.76886 1.76886 NA 0.277442 0.350885 NA 0.232 NA 3.176458 1334 2 201505953 201505953 C T intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs11887334 0.33 0.33 0.348 0.334665 0.2753 0.503 0.2695 0.3064 0.3067 0.27 0.49 0.23 0.31 0.2915 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929998 NA NA 0.256744 0.305631 NA 0.384 NA 3.176456 1334 15 22928537 22928537 G C intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA NA NA NA rs79791617 0.24 0.24 0.208 0.199481 0.2783 0.2153 0.3501 0.0885 0.1452 0.29 0.24 0.34 0.11 0.2724 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651574 NA NA 0.272918 0.103949 NA 0.109 NA 3.176382 1334 2 154428 154428 C T intergenic FAM110C,SH3YL1 dist=107840;dist=63708 NA NA intergenic ENSG00000184731,ENSG00000227061 dist=108043;dist=43141 NA NA NA NA 2p25.3 NA NA NA NA rs450255 0.17 0.17 0.163 0.165935 0.1571 0.1359 0.1585 0.2542 0.092 0.15 0.14 0.15 0.25 NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30439 NA NA NA NA NA 0.268 NA 3.1762334 1334 1 200090120 200090120 G A intronic NR5A2 NA NA NA intronic ENSG00000116833 NA NA NA NA NA 1q32.1 NA NA NA NA rs3762398 0.24 0.24 0.217 0.257788 0.2664 0.2321 0.3919 0.1899 0.272 0.25 0.2 0.36 0.18 0.2763 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205444 NA NA 0.281163 0.192465 NA 0.319 NA 3.176137 1334 11 118134785 118134785 T G intronic MPZL2 NA NA NA intronic ENSG00000149573 NA NA NA NA NA 11q23.3 NA Name=Ini1 NA NA rs1624780 0.59 0.59 0.597 0.619209 0.6113 0.496 0.5648 0.6891 0.6984 0.61 0.53 0.56 0.66 0.6016 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862336 NA NA 0.61115 0.653182 ID=COSN164062;OCCURENCE=1(breast) 0.688 NA 3.17595 1334 9 137320855 137320855 G T intronic RXRA NA NA NA intronic ENSG00000186350 NA NA NA NA NA 9q34.2 NA NA NA NA rs3118570 0.84 0.84 0.849 0.830072 0.8241 0.8036 0.8012 0.9826 0.6779 0.83 0.79 0.78 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428022 NA NA NA NA NA 0.884 NA 3.1759 1334 12 9086683 9086683 A T intronic PHC1 NA NA NA intronic ENSG00000111752 NA NA NA NA NA 12p13.31 NA NA NA NA rs1805735 0.72 0.72 0.705 0.720248 0.8241 0.4563 0.8573 0.7398 0.7618 0.83 0.5 0.86 0.69 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.602179 NA NA NA NA NA 0.826 NA 3.1759 1334 12 9097933 9097933 C A intronic M6PR NA NA NA intronic ENSG00000003056 NA NA NA NA NA 12p13.31 NA NA NA NA rs1805725 0.73 0.73 0.721 0.739816 0.8241 0.4464 0.8602 0.8192 0.7628 0.83 0.48 0.86 0.77 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328149 NA NA NA NA NA 0.848 NA 3.1759 1334 1 167088473 167088473 C A intronic DUSP27 NA NA NA intronic ENSG00000198842 NA NA NA NA NA 1q24.1 NA NA NA NA rs1410244 0.42 0.42 0.393 0.404952 0.2445 0.7351 0.2536 0.3903 0.3569 0.25 0.75 0.27 0.41 0.3257 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301132 NA NA 0.254186 0.358829 NA 0.355 NA 3.175614 1334 3 53882661 53882661 A G intronic IL17RB NA NA NA intronic ENSG00000056736 NA NA NA NA NA 3p21.1 NA NA NA NA rs2232333 0.15 0.15 0.133 0.115615 0.2942 0.001 0.1974 0.034 0.1022 0.31 0.0017 0.23 0.04 0.2245 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333623 NA NA 0.30593 0.085111 NA 0.232 NA 3.17537 1334 19 10477067 10477067 A G intronic TYK2 NA NA NA intronic ENSG00000105397 NA NA NA NA NA 19p13.2 NA NA NA NA rs34725611 0.29 0.29 0.254 0.269369 0.2634 0.5288 0.1945 0.0893 0.3047 0.28 0.48 0.23 0.12 0.2804 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143827 NA NA 0.281163 0.116659 ID=COSN165721;OCCURENCE=1(breast) 0.123 NA 3.175037 1335 11 21592228 21592228 C A intronic NELL1 NA NA NA intronic ENSG00000165973 NA NA NA NA NA 11p15.1 NA NA NA NA rs4922847 0.65 0.65 0.622 0.576078 0.825 0.6538 0.6744 0.2829 0.5665 0.82 0.69 0.68 0.3 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251929 NA NA NA NA NA 0.645 NA 3.175 1335 15 28211758 28211758 A G intronic OCA2 NA NA NA intronic ENSG00000104044 NA NA NA NA NA 15q13.1 NA NA NA NA rs4778218 0.9 0.9 0.924 0.864617 0.825 0.998 0.7738 0.9909 0.6616 0.82 1 0.77 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046838 NA NA NA NA NA 0.942 NA 3.175 1335 16 75276295 75276295 A G intronic BCAR1 NA NA NA intronic ENSG00000050820 NA NA NA NA NA 16q23.1 NA NA NA NA rs7195938 0.91 0.91 0.904 0.933706 0.825 0.9802 0.9121 0.9909 0.9356 0.82 0.98 0.91 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424704 NA NA NA NA NA 0.87 NA 3.175 1335 22 17394989 17394989 T C intergenic HSFY1P1,GAB4 dist=84764;dist=47838 NA NA downstream ENSG00000253691 NA NA NA NA NA 22q11.1 NA NA NA NA rs1860945 0.26 0.26 0.232 0.256789 0.325 0.0466 0.2925 0.354 0.2464 0.34 0.04 0.3 0.36 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876224 NA NA NA NA NA 0.268 NA 3.175 1335 6 36936771 36936771 A G intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA NA NA NA rs7772210 0.23 0.23 0.193 0.234425 0.2753 0.0933 0.3156 0.2474 0.2628 0.28 0.09 0.32 0.26 0.2622 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173469 NA NA 0.287674 0.236269 NA 0.246 NA 3.174826 1335 6 70490511 70490511 A G intronic LMBRD1 NA NA NA intronic ENSG00000168216 NA NA NA NA NA 6q13 NA NA NA NA rs9346353 0.39 0.39 0.356 0.386981 0.4314 0.5655 0.438 0.1271 0.4724 0.43 0.56 0.4 0.14 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.091413 NA NA 0.394092 0.169798 NA 0.304 NA 3.174508 1335 3 45804391 45804391 C T intronic SLC6A20 NA NA NA intronic ENSG00000163817 NA NA NA NA NA 3p21.31 NA NA NA NA rs2191027 0.15 0.15 0.139 0.1248 0.2992 0.0169 0.1931 0.0204 0.1493 0.29 0.02 0.2 0.04 0.2334 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164313 NA NA 0.292907 0.060145 NA 0.109 NA 3.174493 1335 11 20639457 20639457 A G intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA NA NA 11p15.1 NA NA NA NA rs11025653 0.15 0.15 0.123 0.126597 0.2694 0.0179 0.1729 0.0227 0.1994 0.29 0.01 0.22 0.04 0.2527 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226264 NA NA 0.303605 0.068151 NA 0.087 NA 3.174295 1335 18 77132793 77132793 G A intronic ATP9B NA NA NA intronic ENSG00000166377 NA NA NA NA NA 18q23 NA NA NA NA rs3817178 0.29 0.29 0.27 0.283746 0.2664 0.4911 0.2032 0.0673 0.4376 0.28 0.53 0.23 0.08 0.2873 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28606 NA NA 0.272093 0.100318 NA 0.232 NA 3.174207 1335 17 61710010 61710010 G A intronic MAP3K3 NA NA NA intronic ENSG00000198909 NA NA NA NA NA 17q23.3 NA NA NA NA rs6504171 0.32 0.32 0.361 0.337859 0.2704 0.0496 0.2378 0.8003 0.1503 0.27 0.05 0.24 0.79 0.2769 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030737 NA NA 0.278605 0.704494 ID=COSN165494;OCCURENCE=1(breast) 0.319 NA 3.174095 1335 22 31843567 31843567 G C intronic EIF4ENIF1 NA NA NA intronic ENSG00000184708,ENSG00000185721 NA NA NA NA NA 22q12.2 NA NA NA NA rs2273251 0.29 0.29 0.25 0.238019 0.2773 0.499 0.2954 0.0151 0.1892 0.29 0.51 0.29 0.02 0.2723 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.507821 1.507821 NA 0.276395 0.057422 NA 0.232 NA 3.174005 1335 7 75761541 75761541 T C intergenic MDH2,SRRM3 dist=65611;dist=69675 NA NA upstream ENSG00000224273 NA NA NA NA NA 7q11.23 NA NA NA NA rs11763339 0.52 0.52 0.513 0.542732 0.326 0.6071 0.4121 0.789 0.4591 0.33 0.62 0.4 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200633 NA NA NA NA NA 0.63 NA 3.174 1335 5 98210868 98210868 T A intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q21.1 NA NA NA NA rs162140 0.3 0.3 0.318 0.296326 0.2903 0.0427 0.2363 0.6089 0.184 0.28 0.05 0.27 0.62 0.2519 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136202 NA NA 0.283926 0.534215 NA 0.348 NA 3.173874 1335 14 22337181 22337181 C T intergenic OR4E2,DAD1 dist=202943;dist=696626 NA NA intronic ENSG00000211788 NA NA NA NA NA 14q11.2 NA NA NA NA rs909076 0.37 0.37 0.371 0.336661 0.493 0.1994 0.3012 0.3646 0.3047 0.49 0.23 0.35 0.35 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444406 NA NA NA NA NA 0.529 NA 3.1736667 1335 15 22933691 22933691 G A intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA NA NA NA rs1109036 0.25 0.25 0.224 0.212061 0.2783 0.2748 0.3473 0.0893 0.1493 0.29 0.26 0.33 0.11 0.2679 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876313 NA NA 0.280349 0.110304 NA 0.109 NA 3.173451 1335 18 43262501 43262501 C T UTR3 SLC14A2 NM_001242692:c.*17C>T,NM_007163:c.*17C>T NA NA ncRNA_UTR3 ENSG00000132874 NA NA NA NA NA 18q12.3 NA NA NA NA rs3745008 0.4 0.4 0.398 0.427716 0.4404 0.3869 0.3761 0.4024 0.5276 0.44 0.39 0.35 0.4 0.4361 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865787 NA NA 0.450116 0.390377 NA 0.29 NA 3.173384 1335 11 1213804 1213804 T C intergenic MUC2,MUC5B dist=109387;dist=30491 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=51443;dist=30492 NA NA NA NA 11p15.5 NA NA NA NA rs77998608 0.08 0.08 0.065 0.0523163 0.16 0.003 0.0663 0.0076 0.0429 0.16 0.0035 0.09 0.02 NA 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699572 NA NA NA NA NA NA NA 3.1733334 1335 19 23414167 23414167 T G ncRNA_intronic ZNF724P NA NA NA intronic ENSG00000196081 NA NA NA NA NA 19p12 NA NA NA NA rs4932841 0.53 0.53 0.476 0.50639 0.6014 0.6627 0.6398 0.1982 0.5695 0.62 0.67 0.59 0.21 0.5588 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014502 NA NA NA NA NA 0.377 NA 3.1731333 1335 19 4180690 4180690 T G intronic SIRT6 NA NA NA intronic ENSG00000077463 NA NA NA NA NA 19p13.3 NA NA NA NA rs7260071 0.75 0.75 0.762 0.73103 0.827 0.7014 0.6816 0.6793 0.7679 0.83 0.72 0.72 0.69 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214538 NA NA NA NA NA 0.768 NA 3.173 1335 14 106236143 106236143 G A intergenic ELK2AP,KIAA0125 dist=96999;dist=147695 NA NA exonic ENSG00000211897 NA unknown UNKNOWN NA NA 14q32.33 NA NA NA NA rs74093865 0.36 0.36 0.305 0.316494 0.3439 0.3591 0.5216 0.0257 0.4918 0.39 0.51 0.51 0.04 0.3393 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627637 NA 0.04 0.311185 0.074409 NA 0.13 NA 3.1722817 1335 6 29895973 29895973 C G intergenic HCG4B,HLA-A dist=2545;dist=14274 NA NA ncRNA_exonic ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259842 0.88 0.88 0.896 0.911142 0.828 0.9722 0.8934 0.9236 0.9294 0.81 0.96 0.86 0.92 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.668538 NA NA NA NA NA 0.63 NA 3.172 1335 10 43657811 43657811 T G intronic CSGALNACT2 NA NA NA intronic ENSG00000169826 NA NA NA NA NA 10q11.21 NA NA NA NA rs2257767 0.77 0.77 0.776 0.769569 0.828 0.4821 0.7911 0.9894 0.6933 0.82 0.5 0.83 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.072255 3.072255 NA NA NA NA 0.862 NA 3.172 1335 2 187498107 187498107 T C intronic ITGAV NA NA NA intronic ENSG00000138448 NA NA NA NA NA 2q32.1 NA NA NA NA rs9333289 0.18 0.18 0.156 0.179513 0.2972 0.1478 0.2233 0.0098 0.2894 0.31 0.13 0.23 0.01 0.2493 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.990363 2.990363 NA 0.281744 0.055379 NA 0.08 NA 3.171756 1335 21 43338948 43338948 A C intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA NA NA NA rs2245127 0.2 0.2 0.168 0.180312 0.2873 0.1558 0.2176 0.0575 0.2352 0.28 0.16 0.24 0.08 0.2558 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547726 NA NA 0.285581 0.093509 NA 0.246 NA 3.171319 1335 14 101433469 101433469 A T upstream;downstream SNORD114-11;SNORD114-10 NA NA NA upstream;downstream ENSG00000200608,ENSG00000271417;ENSG00000200279,ENSG00000232018 NA NA NA NA NA 14q32.31 NA NA NA NA rs67466596 0.16 0.16 0.125 0.195288 0.163 0.0516 0.3012 0.1551 0.3558 0.16 0.06 0.27 0.2 0.1891 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601219 NA NA 0.143395 0.127854 NA 0.174 NA 3.1711716 1335 9 136083801 136083801 A G intronic OBP2B NA NA NA intronic ENSG00000171102 NA NA NA NA NA 9q34.2 NA NA NA NA rs4310274 0.79 0.79 0.804 0.764776 0.829 0.6369 0.8559 0.8979 0.5859 0.82 0.64 0.85 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004281 NA NA NA NA NA 0.674 NA 3.171 1335 11 123470174 123470174 C T intronic GRAMD1B NA NA NA intronic ENSG00000023171 NA NA NA NA NA 11q24.1 NA NA NA NA rs1275082 0.87 0.87 0.862 0.871805 0.829 0.997 0.8646 0.767 0.9335 0.83 1 0.84 0.79 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.569836 NA NA NA NA NA 0.92 NA 3.171 1335 8 23301340 23301340 A C intronic ENTPD4 NA NA NA intronic ENSG00000197217 NA NA NA NA NA 8p21.2 NA NA NA NA rs11787224 0.31 0.31 0.319 0.325679 0.2634 0.4355 0.2277 0.2867 0.3988 0.27 0.44 0.24 0.28 0.2952 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.128222 2.128222 NA 0.270698 0.297549 NA 0.406 NA 3.170702 1335 2 170463551 170463551 T G intronic PPIG NA NA NA intronic ENSG00000138398 NA NA NA NA NA 2q31.1 NA NA NA NA rs2592813 0.36 0.36 0.314 0.347045 0.4294 0.3958 0.4827 0.1831 0.3374 0.43 0.37 0.42 0.21 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075756 NA NA 0.4 0.20737 NA 0.326 NA 3.1706 1335 5 14610184 14610184 C G intronic FAM105A NA NA NA intronic ENSG00000145569 NA NA NA NA NA 5p15.2 NA NA NA NA rs25960 0.71 0.71 0.678 0.683706 0.83 0.8026 0.8329 0.2557 0.8834 0.84 0.83 0.83 0.29 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105162 NA NA NA NA NA 0.623 NA 3.17 1335 7 6088349 6088349 A G intronic EIF2AK1 NA NA NA intronic ENSG00000086232 NA NA NA NA NA 7p22.1 NA NA NA NA rs523276 0.86 0.86 0.883 0.84984 0.83 0.875 0.7637 0.9138 0.819 0.83 0.92 0.76 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062048 NA NA NA NA NA 0.899 NA 3.17 1335 9 33344252 33344252 T A intronic NFX1 NA NA NA intronic ENSG00000086102 NA NA NA NA NA 9p13.3 NA NA NA NA rs642157 0.82 0.82 0.813 0.819688 0.83 0.8373 0.8285 0.8116 0.7955 0.84 0.83 0.79 0.79 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844892 NA NA NA NA NA 0.826 NA 3.17 1335 21 32524852 32524852 A G intronic TIAM1 NA NA NA intronic ENSG00000156299 NA NA NA NA NA 21q22.11 NA NA NA NA rs9305453 0.86 0.86 0.869 0.878195 0.83 0.7768 0.9193 0.9682 0.8814 0.82 0.78 0.91 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804156 NA NA NA NA NA 0.935 NA 3.17 1335 19 901955 901955 C T intronic R3HDM4 NA NA NA intronic ENSG00000198858 NA NA NA NA NA 19p13.3 NA NA NA NA rs4343405 0.18 0.18 0.175 0.171526 0.2863 NA 0.2061 0.1846 0.1881 0.28 NA 0.24 0.18 0.2376 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133658 NA NA 0.306163 0.19655 NA 0.174 NA 3.169937 1335 5 138221989 138221989 G C intronic CTNNA1 NA NA NA intronic ENSG00000044115 NA NA NA NA NA 5q31.2 NA NA NA NA rs288028 0.18 0.18 0.16 0.185703 0.2664 0.0079 0.2464 0.1936 0.2321 0.27 0.01 0.26 0.19 0.2654 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780146 NA NA 0.298372 0.210849 NA 0.196 NA 3.169828 1335 2 113888579 113888579 T C intronic IL1RN NA NA NA intronic ENSG00000136689 NA NA NA NA NA 2q13 NA NA NA NA rs432014 0.21 0.21 0.177 0.221046 0.2922 0.0942 0.3415 0.1354 0.3088 0.29 0.08 0.35 0.15 0.2597 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.478862 1.478862 NA 0.278488 0.154789 NA 0.275 NA 3.169612 1335 1 156256000 156256000 T C intronic TMEM79 NA NA NA intronic ENSG00000163472 NA NA NA NA NA 1q22 NA NA NA NA rs6679145 0.21 0.21 0.192 0.20647 0.2694 0.2272 0.2795 0.0923 0.2229 0.27 0.24 0.23 0.09 0.2677 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203225 NA NA 0.293372 0.123014 NA 0.217 NA 3.169528 1335 16 28132951 28132951 T C intronic XPO6 NA NA NA intronic ENSG00000169180 NA NA NA NA NA 16p11.2 NA NA NA NA rs33048 0.23 0.23 0.219 0.220447 0.2793 0.1032 0.2579 0.326 0.1115 0.29 0.06 0.26 0.31 0.2554 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076616 NA NA 0.295881 0.318012 NA 0.232 NA 3.169419 1335 10 49450443 49450443 A G intronic FRMPD2 NA NA NA intronic ENSG00000170324 NA NA NA NA NA 10q11.22 NA Name=CTCF_(SC-5916),CTCF Name=2 NA rs280612 0.89 0.89 0.882 0.882388 0.9453 0.999 0.938 0.6536 0.9673 0.94 1 0.92 0.67 0.9331 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099817 NA NA 0.952381 0.725265 NA 0.739 NA 3.169219 1335 17 40735641 40735641 C T intronic FAM134C NA NA NA intronic ENSG00000141699 NA NA NA NA NA 17q21.2 NA NA NA NA rs10454087 0.29 0.29 0.301 0.324481 0.2654 0.4514 0.2061 0.1944 0.5143 0.28 0.44 0.19 0.22 0.2924 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081246 NA NA 0.273023 0.198593 NA 0.391 NA 3.169177 1335 2 128342547 128342547 G A intronic MYO7B NA NA NA intronic ENSG00000169994 NA NA NA NA NA 2q14.3 NA NA NA NA rs4662741 0.92 0.92 0.924 0.91873 0.831 0.9861 0.9207 0.9879 0.8446 0.85 0.99 0.91 0.98 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458038 NA NA NA NA NA 0.848 NA 3.169 1335 16 142825 142825 T C intronic NPRL3 NA NA NA intronic ENSG00000103148 NA NA NA NA NA 16p13.3 NA NA NA NA rs2541618 0.79 0.79 0.776 0.805312 0.831 0.7113 0.8631 0.8056 0.8344 0.84 0.69 0.87 0.78 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547127 NA NA NA NA NA 0.833 NA 3.169 1335 1 156263097 156263097 A G intronic C1orf85 NA NA NA intronic ENSG00000198715 NA NA NA NA NA 1q22 NA NA NA NA rs10908494 0.21 0.21 0.181 0.20647 0.2694 0.2272 0.2795 0.0923 0.2229 0.27 0.24 0.23 0.09 0.2688 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.913828 2.913828 NA 0.292907 0.123241 NA 0.217 NA 3.168893 1335 5 135391326 135391326 A G intronic TGFBI NA NA NA intronic ENSG00000120708 NA NA NA NA NA 5q31.1 NA NA NA NA rs6860369 0.37 0.37 0.417 0.404153 0.2594 0.3433 0.2478 0.6702 0.3671 0.27 0.34 0.25 0.67 0.3082 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.341597 1.341597 NA 0.263804 0.604078 NA 0.377 NA 3.168596 1335 2 189855674 189855674 T A intronic COL3A1 NA NA NA intronic ENSG00000168542 NA NA NA NA NA 2q32.2 NA NA NA NA rs2203601 0.38 0.38 0.34 0.370208 0.4215 0.6091 0.4539 0.0431 0.454 0.42 0.59 0.41 0.06 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135883 NA NA 0.410063 0.112717 NA 0.326 NA 3.168437 1335 7 100552788 100552788 C T intergenic ACHE,MUC12 dist=59247;dist=60116 NA NA intronic ENSG00000169894 NA NA NA NA NA 7q22.1 NA NA NA NA rs73398800 NA NA NA 0.0113818 NA NA 0.0058 0.0401 NA NA NA NA NA 0.4984 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117707 NA NA NA NA NA 0.5 NA 3.1682667 1335 18 5956425 5956425 C T intronic L3MBTL4 NA NA NA ncRNA_intronic ENSG00000265487 NA NA NA NA NA 18p11.31 NA NA NA NA rs3737354 0.38 0.38 0.362 0.386581 0.3976 0.4742 0.2723 0.2995 0.4836 0.41 0.47 0.28 0.32 0.3835 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055139 NA NA 0.384076 0.293793 NA 0.37 NA 3.1681573 1335 8 37693302 37693302 T C intronic GPR124 NA NA NA intronic ENSG00000020181 NA NA NA NA NA 8p11.23 NA Name=Egr-1,YY1,TBP,E2F6,PU.1,Pol2,HMGN3,E2F6_(H-50),TAF1 Name=10 NA rs10101560 0.98 0.98 0.97 0.978834 0.9423 0.999 0.9813 0.9992 0.9663 0.94 1 0.98 1 0.9539 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229598 NA NA 0.935769 0.984091 NA 0.964 NA 3.168031 1335 11 62123989 62123989 T A intronic ASRGL1 NA NA NA intronic ENSG00000162174 NA NA NA NA NA 11q12.3 NA NA NA NA rs67821209 0.23 0.23 0.212 0.232029 0.2893 0.2431 0.2882 0.0492 0.3691 0.29 0.28 0.27 0.06 0.2818 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39956 NA NA 0.260875 0.084015 NA 0.246 NA 3.168025 1335 1 151395782 151395782 T C intronic POGZ NA NA NA intronic ENSG00000143442 NA NA NA NA NA 1q21.3 NA NA NA NA rs2274533 0.54 0.54 0.557 0.552516 0.832 0.2113 0.4769 0.556 0.6656 0.84 0.18 0.54 0.5 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017123 NA NA NA NA NA 0.696 NA 3.168 1335 1 244601152 244601152 C T intronic ADSS NA NA NA intronic ENSG00000035687 NA NA NA NA NA 1q44 NA NA NA NA rs3127465 0.83 0.83 0.832 0.821685 0.832 0.7718 0.8545 0.9455 0.6718 0.82 0.75 0.86 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348731 NA NA NA NA NA 0.819 NA 3.168 1335 6 29149442 29149442 A G intergenic OR2J2,OR14J1 dist=7091;dist=125025 NA NA ncRNA_exonic ENSG00000224233 NA NA NA NA NA 6p22.1 NA NA NA NA rs3116816 0.75 0.75 0.748 0.749201 0.832 0.5942 0.7493 0.7685 0.7975 0.85 0.57 0.74 0.8 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.510151 NA NA NA NA NA 0.79 NA 3.168 1335 11 10518289 10518289 T C intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs1466426 0.75 0.75 0.74 0.726438 0.832 0.9385 0.6066 0.438 0.8742 0.84 0.94 0.63 0.47 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466337 NA NA NA NA NA 0.746 NA 3.168 1335 17 74208424 74208424 G A intronic RNF157 NA NA NA UTR3 ENSG00000141576 ENST00000592271:c.*9C>T NA NA NA NA 17q25.1 NA NA NA NA rs9911122 0.31 0.31 0.294 0.271765 0.337 0.4603 0.2666 0.1029 0.2423 0.33 0.48 0.31 0.11 0.3149 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123105 NA NA 0.347093 0.144349 NA 0.312 NA 3.1676737 1335 4 39122577 39122577 A G intronic KLHL5 NA NA NA ncRNA_intronic ENSG00000249207 NA NA NA NA NA 4p14 NA NA NA NA rs3733274 0.53 0.53 0.519 0.490016 0.5765 0.495 0.5951 0.3321 0.5348 0.59 0.52 0.62 0.39 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527786 NA NA 0.589566 0.382225 NA 0.514 NA 3.1672673 1335 5 33649807 33649807 C A intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA Score=529;Name=lod=188 NA 5p13.3 NA NA NA NA rs4504387 0.58 0.58 0.562 0.540335 0.6014 0.7143 0.6066 0.3585 0.4969 0.59 0.71 0.62 0.37 0.5892 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041337 NA NA 0.642326 0.437131 NA 0.478 NA 3.167074 1335 7 100552837 100552837 G A intergenic ACHE,MUC12 dist=59296;dist=60067 NA NA intronic ENSG00000169894 NA NA NA NA NA 7q22.1 NA NA NA NA rs73714264 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4996 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746781 NA NA NA NA NA 0.493 NA 3.1670667 1335 1 206772753 206772753 A G intronic EIF2D NA NA NA intronic ENSG00000143486 NA NA NA NA NA 1q32.1 NA NA NA NA rs4845116 0.8 0.8 0.814 0.763179 0.833 0.6577 0.7795 0.8215 0.7096 0.84 0.74 0.8 0.83 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.354701 4.354701 NA NA NA NA 0.71 NA 3.167 1335 3 64526717 64526717 G C intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs3796384 0.55 0.55 0.515 0.532348 0.833 0.4137 0.4726 0.2481 0.772 0.83 0.4 0.57 0.25 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364097 NA NA NA NA NA 0.543 NA 3.167 1335 16 75263974 75263974 T C intronic BCAR1 NA NA NA intronic ENSG00000050820 NA NA NA NA NA 16q23.1 NA NA NA NA rs6564241 0.92 0.92 0.922 0.939297 0.833 0.996 0.9164 0.9924 0.9346 0.83 0.99 0.91 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062588 NA NA NA NA NA 0.891 NA 3.167 1335 15 41149161 41149161 G C exonic SPINT1 NA synonymous SNV SPINT1:NM_001032367:exon10:c.G1530C:p.T510T,SPINT1:NM_003710:exon11:c.G1530C:p.T510T,SPINT1:NM_181642:exon11:c.G1578C:p.T526T exonic ENSG00000166145 NA synonymous SNV ENSG00000166145:ENST00000564375:exon7:c.G879C:p.T293T,ENSG00000166145:ENST00000431806:exon10:c.G1530C:p.T510T,ENSG00000166145:ENST00000344051:exon11:c.G1578C:p.T526T,ENSG00000166145:ENST00000562057:exon11:c.G1530C:p.T510T NA NA 15q15.1 NA NA NA NA rs690458 0.86 0.86 0.853 0.850839 0.83 0.9901 0.889 0.7368 0.8558 0.82 0.99 0.89 0.75 0.8513 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.226229 NA NA 0.818372 0.753972 NA 0.87 NA 3.1669946 1335 7 100552854 100552854 G A intergenic ACHE,MUC12 dist=59313;dist=60050 NA NA intronic ENSG00000169894 NA NA NA NA NA 7q22.1 NA NA NA NA rs73714265 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4998 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.104598 NA NA NA NA NA 0.493 NA 3.1668667 1335 22 31508966 31508966 A G intergenic SELM,INPP5J dist=5415;dist=9995 NA NA intronic ENSG00000198832 NA NA NA NA NA 22q12.2 NA NA NA NA rs4820940 0.31 0.31 0.302 0.328075 0.5 0.0327 0.4308 0.2602 0.4744 0.49 0.03 0.44 0.28 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.985708 NA NA NA NA NA 0.377 NA 3.1666667 1335 19 15838746 15838746 A G upstream OR10H2 NA NA NA upstream ENSG00000171942 NA NA NA NA NA 19p13.12 NA NA NA NA rs11672695 NA NA 0.548 0.557708 0.5 0.9296 0.5764 0.2746 0.6033 NA NA NA NA NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487221 NA NA NA NA NA 0.486 NA 3.1666666 1335 19 46974307 46974307 C T UTR5 PNMAL1 NM_018215:c.-15G>A,NM_001103149:c.-15G>A NA NA UTR5 ENSG00000182013 ENST00000438932:c.-15G>A,ENST00000313683:c.-15G>A,ENST00000602246:c.-15G>A NA NA NA NA 19q13.32 NA Name=CTCF,ZNF263 NA NA rs3826852 0.74 0.74 0.741 0.752596 0.7048 0.8204 0.7867 0.6687 0.8211 0.7 0.85 0.74 0.67 0.7396 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.668329 NA NA 0.722442 0.642987 NA 0.674 NA 3.1664914 1335 19 53345447 53345447 C T intronic ZNF468 NA NA NA intronic ENSG00000198538,ENSG00000204604 NA NA NA NA NA 19q13.41 NA NA NA NA rs60596790 0.25 0.25 0.262 0.317891 0.2654 0.1101 0.245 0.4198 0.5 0.26 0.1 0.25 0.4 0.2882 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.410658 NA NA 0.280066 0.376286 NA 0.333 NA 3.166334 1335 3 169621973 169621973 G A intergenic LRRC31,SAMD7 dist=34250;dist=7509 NA NA ncRNA_exonic ENSG00000240128 NA NA NA NA NA 3q26.2 NA NA NA NA rs4955689 0.86 0.86 0.861 0.852037 0.834 0.872 0.9092 0.8578 0.8016 0.82 0.89 0.9 0.86 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570208 NA NA NA NA NA 0.877 NA 3.166 1335 18 14613815 14613815 A G intergenic POTEC,ANKRD30B dist=70216;dist=134424 NA NA ncRNA_exonic ENSG00000266693 NA NA NA NA NA 18p11.21 NA NA NA NA rs12960773 0.59 0.59 0.59 0.584665 0.834 0.4831 0.6902 0.3525 0.6718 0.78 0.45 0.67 0.38 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069832 NA NA NA NA NA NA NA 3.166 1335 4 2717690 2717690 C T intronic FAM193A NA NA NA intronic ENSG00000125386 NA NA NA NA NA 4p16.3 NA NA NA NA rs2295499 0.45 0.45 0.432 0.454673 0.4066 0.4018 0.5994 0.444 0.4703 0.43 0.43 0.54 0.43 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133258 NA NA 0.427404 0.450867 ID=COSN167142;OCCURENCE=1(large_intestine) 0.5 NA 3.165996 1335 21 43338175 43338175 C T intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA NA NA NA rs3827223 0.22 0.22 0.193 0.199481 0.2883 0.1548 0.2205 0.1241 0.2413 0.28 0.16 0.24 0.16 0.2601 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.11857 NA NA 0.285698 0.144349 NA 0.275 NA 3.165902 1335 18 43262532 43262532 C A UTR3 SLC14A2 NM_001242692:c.*48C>A,NM_007163:c.*48C>A NA NA ncRNA_UTR3 ENSG00000132874 NA NA NA NA NA 18q12.3 NA NA NA NA rs3745007 0.42 0.42 0.414 0.450679 0.4404 0.3879 0.389 0.4811 0.5286 0.44 0.39 0.37 0.46 0.4426 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20054 NA NA 0.451279 0.455288 NA 0.326 NA 3.165721 1336 6 32011714 32011714 A G intronic TNXB NA NA NA intronic ENSG00000168477 NA NA NA NA NA 6p21.33 NA NA NA NA rs397948 NA NA 0.2 0.551717 0.4155 0.5179 0.4092 0.7383 0.5757 NA NA NA NA 0.4203 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45683 NA NA NA NA NA 0.254 NA 3.1642 1336 16 30505512 30505512 C T intronic ITGAL NA NA NA intronic ENSG00000005844 NA NA NA NA NA 16p11.2 NA NA NA NA rs1978079 0.23 0.23 0.265 0.383187 0.2913 0.1161 0.2118 0.5318 0.6738 0.25 0.06 0.21 0.42 0.3144 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915454 NA NA 0.230116 0.425125 NA NA NA 3.164184 1336 3 75986794 75986794 G A intergenic ZNF717,ROBO2 dist=152539;dist=1102500 NA NA intronic ENSG00000185008 NA NA NA NA NA 3p12.3 NA NA NA NA rs80235520 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535883 NA NA NA NA NA NA NA 3.1637667 1336 17 53042017 53042017 C G intronic COX11 NA NA NA intronic ENSG00000166260 NA NA NA NA NA 17q22 NA NA NA NA rs55801837 0.24 0.24 0.241 0.26238 0.2704 0.1052 0.2262 0.3555 0.316 0.27 0.09 0.26 0.37 0.2731 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108185 NA NA 0.292831 0.352701 NA 0.312 NA 3.163669 1336 7 21945086 21945086 C A intronic CDCA7L NA NA NA intronic ENSG00000164649 NA NA NA NA NA 7p15.3 NA NA NA NA rs6953368 0.19 0.19 0.186 0.192093 0.2972 0.123 0.1844 0.1445 0.2249 0.29 0.1 0.18 0.13 0.2477 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167964 NA NA 0.291696 0.170903 NA 0.188 NA 3.163404 1336 16 55847051 55847051 C T intronic CES1 NA NA NA intronic ENSG00000198848 NA NA NA NA NA 16q12.2 NA NA NA NA rs3859093 0.65 0.65 0.622 0.609225 0.837 0.3948 0.7075 0.5779 0.5685 0.85 0.39 0.74 0.58 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604321 NA NA NA NA NA 0.609 NA 3.163 1336 16 89212200 89212200 A G intronic ACSF3 NA NA NA intronic ENSG00000176715 NA NA NA NA NA 16q24.3 NA NA NA NA rs4302032 0.69 0.69 0.672 0.656949 0.837 0.6716 0.5735 0.5068 0.7188 0.84 0.67 0.63 0.52 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744253 NA NA NA NA NA 0.558 NA 3.163 1336 20 56078690 56078690 G A intronic CTCFL NA NA NA intronic ENSG00000124092 NA NA NA NA NA 20q13.31 NA NA NA NA rs6128059 0.2 0.2 0.2 0.213858 0.2793 0.2083 0.1671 0.0998 0.3395 0.28 0.18 0.17 0.11 0.2591 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570807 NA NA 0.298837 0.114389 NA 0.217 NA 3.162763 1336 18 29419462 29419462 C A intronic TRAPPC8 NA NA NA intronic ENSG00000153339 NA NA NA NA NA 18q12.1 NA NA NA NA rs7226615 0.3 0.3 0.284 0.332668 0.2565 0.5069 0.2003 0.1717 0.5429 0.28 0.49 0.21 0.18 0.3158 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071731 NA NA 0.265097 0.164676 NA 0.246 NA 3.162603 1336 5 101726770 101726770 T C intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs10073892 0.18 0.18 0.153 0.154752 0.3111 0.1478 0.1671 0.0204 0.1738 0.3 0.14 0.19 0.03 0.2426 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.117522 NA NA 0.283721 0.05606 NA 0.239 NA 3.162579 1336 2 71747851 71747851 T C intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs12713755 0.67 0.67 0.69 0.65615 0.838 0.2361 0.7161 0.8986 0.5317 0.83 0.2 0.73 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.480329 1.480329 NA NA NA NA 0.783 NA 3.162 1336 2 241533845 241533845 T C intronic CAPN10 NA NA NA intronic ENSG00000142330 NA NA NA NA NA 2q37.3 NA NA NA NA rs2975763 0.92 0.92 0.9 0.899161 0.838 0.9841 0.9078 0.9433 0.8088 0.84 0.99 0.91 0.94 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544171 NA NA NA NA NA 0.935 NA 3.162 1336 2 241534381 241534381 A G intronic CAPN10 NA NA NA intronic ENSG00000142330 NA NA NA NA NA 2q37.3 NA NA NA NA rs2975764 0.86 0.86 0.819 0.838858 0.838 0.9851 0.8847 0.73 0.8037 0.84 0.99 0.89 0.72 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511851 NA NA NA NA NA 0.877 NA 3.162 1336 2 90259848 90259848 T G intergenic MIR4436A,LOC654342 dist=1147880;dist=1564861 NA NA intronic ENSG00000239819 NA NA NA NA NA 2p11.2 NA NA NA NA rs842155 0.21 0.21 0.236 0.240815 0.169 0.0853 0.147 0.5461 0.1288 0.17 0.08 0.12 0.5 0.1713 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74529 NA NA 0.164424 0.504595 NA 0.203 NA 3.1619427 1336 1 202121643 202121643 G A intronic PTPN7 NA NA NA intronic ENSG00000143851 NA NA NA NA NA 1q32.1 NA NA NA NA rs10920337 0.4 0.4 0.418 0.438698 0.2565 0.37 0.3602 0.7247 0.3661 0.26 0.37 0.34 0.71 0.3336 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424766 NA NA 0.247965 0.61961 NA 0.413 NA 3.161935 1336 3 125734465 125734465 G A intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs9862310 0.31 0.31 0.325 0.328874 0.2843 0.1825 0.2925 0.5439 0.2607 0.27 0.19 0.28 0.51 0.2875 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679346 NA NA 0.266395 0.498865 NA 0.341 NA 3.161805 1336 21 45089877 45089877 G A intronic RRP1B NA NA NA intronic ENSG00000160208 NA NA NA NA NA 21q22.3 NA Name=BCL3,NANOG_(SC-33759) NA NA rs2838344 0.64 0.64 0.603 0.640775 0.6074 0.8353 0.7219 0.4244 0.7096 0.6 0.83 0.67 0.47 0.6444 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064446 NA NA 0.586512 0.465956 ID=COSN166669;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.572 NA 3.161688 1336 16 78148830 78148830 C T intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs12934051 0.2 0.2 0.173 0.173722 0.2763 0.2083 0.1974 0.0144 0.2311 0.3 0.22 0.24 0.01 0.2574 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.875112 NA NA 0.304896 0.065493 ID=COSN165264;OCCURENCE=1(breast) 0.123 NA 3.161404 1336 6 89862725 89862725 T C intronic PM20D2 NA NA NA intronic ENSG00000146281 NA NA NA NA NA 6q15 NA NA NA NA rs6937095 0.18 0.18 0.162 0.204473 0.2893 0.125 0.1643 0.1452 0.3078 0.27 0.11 0.18 0.13 0.2564 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82385 NA NA 0.292907 0.167878 ID=COSN167853;OCCURENCE=1(large_intestine) 0.203 NA 3.161393 1336 8 131414083 131414083 A G intronic ASAP1 NA NA NA intronic ENSG00000153317 NA NA NA NA NA 8q24.21 NA NA NA NA rs10090231 0.29 0.29 0.286 0.285144 0.2783 0.0764 0.2954 0.5113 0.1943 0.28 0.09 0.3 0.51 0.2647 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002025 NA NA 0.295698 0.448025 ID=COSN168431;OCCURENCE=1(large_intestine) 0.377 NA 3.161302 1336 22 50678571 50678571 T C intronic TUBGCP6 NA NA NA intronic ENSG00000128159 NA NA NA NA NA 22q13.33 NA NA NA NA rs5771109 0.38 0.38 0.384 0.384185 0.4056 0.3601 0.2839 0.444 0.3773 0.4 0.34 0.26 0.49 0.4332 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815062 NA NA NA NA NA 0.362 NA 3.1612 1336 19 6230771 6230771 T G intronic MLLT1 NA NA NA intronic ENSG00000130382 NA NA NA NA NA 19p13.3 NA NA NA NA rs2233185 0.37 0.37 0.389 0.401158 0.2664 0.1567 0.366 0.7549 0.3384 0.26 0.16 0.36 0.76 0.302 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672954 NA NA 0.270698 0.661598 NA 0.42 NA 3.160902 1336 12 11338614 11338614 A G exonic TAS2R42 NA synonymous SNV TAS2R42:NM_181429:exon1:c.T930C:p.N310N exonic ENSG00000186136 NA synonymous SNV ENSG00000186136:ENST00000334266:exon1:c.T930C:p.N310N NA NA 12p13.2 NA NA NA NA rs1669411 0.67 0.67 0.759 0.760783 0.8688 0.9514 0.8473 0.407 0.8701 0.73 0.86 0.74 0.31 0.8371 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691319 NA NA 0.799884 0.393781 NA NA NA 3.1608826 1336 19 47912323 47912323 T G intronic MEIS3 NA NA NA intronic ENSG00000105419 NA NA NA NA NA 19q13.32 NA NA NA NA rs2272294 0.25 0.25 0.24 0.268371 0.2813 0.1528 0.3141 0.2693 0.3405 0.29 0.12 0.31 0.3 0.2795 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337389 NA NA 0.278372 0.257376 NA 0.203 NA 3.160828 1336 14 100317376 100317376 G A intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA NA NA NA rs72708401 0.18 0.18 0.168 0.14976 0.2992 0.1359 0.1671 0.0552 0.1258 0.3 0.12 0.19 0.04 0.2493 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075302 NA NA 0.290698 0.09941 NA 0.297 NA 3.160802 1336 20 62576991 62576991 G A intronic UCKL1 NA NA NA intronic ENSG00000198276 NA NA NA NA NA 20q13.33 NA NA NA NA rs2252258 0.32 0.32 0.347 0.341254 0.2813 0.3234 0.196 0.5151 0.2894 0.27 0.3 0.23 0.5 0.2901 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282222 NA NA 0.268273 0.476169 NA 0.406 NA 3.160327 1336 2 29519622 29519622 C T intronic ALK NA NA NA intronic ENSG00000171094 NA NA NA NA NA 2p23.2 NA NA NA NA rs2272409 0.73 0.73 0.686 0.704673 0.84 0.8244 0.8473 0.379 0.7812 0.83 0.82 0.83 0.39 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256233 NA NA NA NA NA 0.645 NA 3.16 1336 3 10251196 10251196 A G intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs459864 0.65 0.65 0.64 0.608626 0.84 0.4494 0.7277 0.5121 0.5808 0.84 0.48 0.72 0.52 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261957 NA NA NA NA NA 0.754 NA 3.16 1336 16 78149067 78149067 A C intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs12934985 0.2 0.2 0.174 0.175919 0.2763 0.2163 0.1974 0.0144 0.2342 0.3 0.23 0.24 0.01 0.2582 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119868 NA NA 0.305542 0.063755 ID=COSN165265;OCCURENCE=1(breast) 0.123 NA 3.159958 1336 2 44548613 44548613 T C intronic PREPL NA NA NA UTR3 ENSG00000138078,ENSG00000138079 ENST00000420756:c.*230A>G;ENST00000260649:c.*835T>C NA NA NA NA 2p21 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs2241871 0.6 0.6 0.632 0.624601 0.666 0.3284 0.6138 0.7859 0.6769 0.66 0.35 0.64 0.77 0.6587 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267159 NA NA 0.682135 0.759991 NA 0.667 NA 3.1598317 1336 13 111109859 111109859 A G intronic COL4A2 NA NA NA ncRNA_intronic ENSG00000224821 NA NA NA NA NA 13q34 NA NA NA NA rs9515218 0.5 0.5 0.506 0.489617 0.5974 0.2232 0.4942 0.6437 0.4417 0.6 0.2 0.56 0.66 0.5764 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572237 NA NA NA NA NA 0.5 NA 3.1595333 1336 16 28847246 28847246 T C intronic ATXN2L NA NA NA ncRNA_intronic ENSG00000260570 NA NA NA NA NA 16p11.2 NA NA NA NA rs12928404 0.44 0.44 0.398 0.45607 0.3459 0.4712 0.5692 0.5378 0.363 0.36 0.46 0.51 0.49 0.4404 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.505938 NA NA 0.387555 0.521858 NA 0.341 NA 3.1594783 1336 20 13071871 13071871 C A intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA NA NA NA rs243874 0.26 0.26 0.256 0.246206 0.2913 0.0774 0.2594 0.3964 0.1616 0.29 0.06 0.29 0.4 0.2552 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.040416 3.040416 NA 0.294025 0.376243 NA 0.333 NA 3.159475 1336 11 107852281 107852281 C T intergenic RAB39A,CUL5 dist=18073;dist=27127 NA NA intergenic ENSG00000179331,ENSG00000166266 dist=18073;dist=27178 NA NA NA NA 11q22.3 NA NA NA NA rs11603234 0.14 0.14 0.154 0.160343 0.174 0.0317 0.098 0.2549 0.1953 0.18 0.03 0.09 0.26 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519579 NA NA NA NA NA 0.174 NA 3.1593334 1336 16 16110244 16110244 C G intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs185005 0.76 0.76 0.732 0.730431 0.841 0.744 0.8718 0.6974 0.547 0.83 0.71 0.84 0.67 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760001 NA NA NA NA NA 0.79 NA 3.159 1336 16 16110253 16110253 T C intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs246215 0.76 0.76 0.726 0.730631 0.841 0.744 0.8718 0.6974 0.5481 0.83 0.71 0.84 0.67 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86972 NA NA NA NA NA 0.797 NA 3.159 1336 19 46331302 46331302 C G intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs4239535 0.86 0.86 0.852 0.852236 0.841 0.9048 0.7622 0.8858 0.8282 0.84 0.91 0.79 0.88 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771511 NA NA NA NA NA 0.913 NA 3.159 1336 19 48382157 48382157 T C intronic SULT2A1 NA NA NA intronic ENSG00000105398 NA NA NA NA NA 19q13.33 NA NA NA NA rs2547239 0.93 0.93 0.93 0.9375 0.841 0.996 0.938 0.997 0.8957 0.84 1 0.93 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303352 NA NA NA NA NA 0.841 NA 3.159 1336 12 124139597 124139597 A G intronic GTF2H3 NA NA NA intronic ENSG00000111358 NA NA NA NA NA 12q24.31 NA NA NA NA rs4930737 0.17 0.17 0.17 0.171925 0.2813 0.0278 0.1628 0.1573 0.2342 0.29 0.03 0.17 0.14 0.2545 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009295 NA NA 0.305544 0.188772 NA 0.152 NA 3.158656 1336 17 48735774 48735774 G A intronic ABCC3 NA NA NA intronic ENSG00000108846 NA NA NA NA NA 17q21.33 NA NA NA NA rs739923 0.26 0.26 0.244 0.314896 0.2803 0.2431 0.2911 0.2632 0.5112 0.28 0.25 0.28 0.23 0.2906 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228661 NA NA 0.270698 0.252837 NA 0.304 NA 3.158402 1336 3 125741592 125741592 C T intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs3817079 0.31 0.31 0.314 0.330471 0.2853 0.1825 0.2896 0.5499 0.2618 0.27 0.19 0.28 0.51 0.2896 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469758 NA NA 0.26686 0.509079 NA 0.333 NA 3.15824 1336 2 98811075 98811075 A G intronic VWA3B NA NA NA intronic ENSG00000168658 NA NA NA NA NA 2q11.2 NA NA NA NA rs7579916 0.92 0.92 0.919 0.925919 0.8419 0.9841 0.8905 0.9455 0.9509 0.85 0.99 0.9 0.95 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.893467 NA NA NA NA NA 0.906 NA 3.1581 1336 5 14366840 14366840 T C intronic TRIO NA NA NA intronic ENSG00000038382 NA NA NA NA NA 5p15.2 NA NA NA NA rs30784 0.83 0.83 0.828 0.817891 0.8419 0.7282 0.817 0.9539 0.7025 0.85 0.73 0.8 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473332 NA NA NA NA NA 0.841 NA 3.1581 1336 9 136561567 136561567 G T intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs2427998 0.85 0.85 0.825 0.775759 0.8419 0.9325 0.8501 0.7587 0.5164 0.84 0.94 0.84 0.76 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660156 NA NA NA NA NA 0.761 NA 3.1581 1336 19 19751456 19751456 C A intronic GMIP NA NA NA intronic ENSG00000089639 NA NA NA NA NA 19p13.11 NA NA NA NA rs2043293 0.82 0.82 0.827 0.814097 0.8419 0.7629 0.7867 0.8638 0.7904 0.84 0.77 0.8 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914245 NA NA NA NA NA 0.848 NA 3.1581 1336 1 154524973 154524973 A G intronic UBE2Q1 NA NA NA intronic ENSG00000160714 NA NA NA NA NA 1q21.3 NA NA NA NA rs12144146 0.16 0.16 0.142 0.129193 0.3052 0.0169 0.2522 0.0144 0.1319 0.31 0.02 0.23 0.02 0.2316 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904239 NA NA 0.305465 0.061734 NA 0.232 NA 3.157735 1336 10 99229394 99229394 G A intronic MMS19 NA NA NA intronic ENSG00000155229 NA NA NA NA NA 10q24.1 NA NA NA NA rs2275583 0.32 0.32 0.308 0.324081 0.2694 0.4861 0.3184 0.1974 0.3885 0.27 0.49 0.31 0.2 0.2975 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544165 NA NA 0.275814 0.186791 NA 0.21 NA 3.157286 1336 6 152489038 152489038 T C intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.1 NA NA Name=9 NA rs997769 0.66 0.66 0.687 0.717851 0.5785 0.876 0.7176 0.6407 0.8027 0.51 0.88 0.66 0.65 0.6711 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.057394 NA NA 0.593277 0.63409 NA 0.572 NA 3.157123 1336 12 55771062 55771062 A G intergenic OR6C75,OR6C65 dist=11229;dist=23251 NA NA ncRNA_exonic ENSG00000203408 NA NA NA NA NA 12q13.2 NA NA NA NA rs7488143 0.87 0.87 0.836 0.878395 0.8429 0.996 0.902 0.7519 0.9479 0.84 0.99 0.9 0.74 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.687412 2.687412 NA NA NA NA 0.797 NA 3.1571 1336 12 55771125 55771125 A G intergenic OR6C75,OR6C65 dist=11292;dist=23188 NA NA ncRNA_exonic ENSG00000203408 NA NA NA NA NA 12q13.2 NA NA NA NA rs7488163 0.83 0.83 0.834 0.879193 0.8429 1 0.902 0.7519 0.9479 0.82 0.97 0.86 0.68 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121763 NA NA NA NA NA NA NA 3.1571 1336 12 55771126 55771126 A T intergenic OR6C75,OR6C65 dist=11293;dist=23187 NA NA ncRNA_exonic ENSG00000203408 NA NA NA NA NA 12q13.2 NA NA NA NA rs7488164 0.84 0.84 0.834 0.879193 0.8429 1 0.902 0.7519 0.9479 0.82 0.97 0.86 0.69 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.283041 1.283041 NA NA NA NA NA NA 3.1571 1336 5 1416142 1416142 C A intronic SLC6A3 NA NA NA intronic ENSG00000142319 NA NA NA NA NA 5p15.33 NA NA NA NA rs40358 0.75 0.75 0.742 0.748203 0.8429 0.6091 0.7853 0.6838 0.8548 0.84 0.63 0.78 0.72 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.026145 NA NA NA NA NA 0.804 NA 3.1571 1336 11 117059347 117059347 C T intronic SIDT2 NA NA NA intronic ENSG00000149577 NA NA NA NA NA 11q23.3 NA NA NA NA rs90192 0.7 0.7 0.697 0.664537 0.8429 0.4583 0.7579 0.7383 0.5276 0.84 0.47 0.78 0.72 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772262 NA NA NA NA NA 0.725 NA 3.1571 1336 16 27666204 27666204 A G intronic KIAA0556 NA NA NA intronic ENSG00000047578 NA NA NA NA NA 16p12.1 NA NA NA NA rs233470 0.79 0.79 0.79 0.795727 0.8429 0.9117 0.7925 0.5779 0.9243 0.84 0.91 0.8 0.59 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171803 NA NA NA NA NA 0.804 NA 3.1571 1336 7 73469169 73469169 C T intronic ELN NA NA NA intronic ENSG00000049540 NA NA NA NA NA 7q11.23 NA NA NA NA rs2239691 0.25 0.25 0.25 0.216254 0.4235 0.1181 0.2421 0.1036 0.2382 0.4 0.15 0.29 0.11 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790465 NA NA 0.419862 0.139451 NA 0.225 NA 3.156638 1336 3 108195406 108195406 C T intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs3996003 0.18 0.18 0.171 0.168131 0.3191 0.0109 0.1974 0.1225 0.2157 0.33 NA 0.24 0.13 0.2381 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718937 NA NA 0.28627 0.141161 NA 0.159 NA 3.15653 1336 11 1213000 1213000 T A intergenic MUC2,MUC5B dist=108583;dist=31295 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=50639;dist=31296 NA NA NA NA 11p15.5 NA NA NA NA rs75897537 NA NA 0.33 NA NA NA NA NA NA NA NA NA NA 0.1772 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186901 NA NA NA NA NA NA NA 3.1561334 1336 16 27629661 27629661 G C intronic KIAA0556 NA NA NA intronic ENSG00000047578 NA NA NA NA NA 16p12.1 NA NA NA NA rs4787980 0.88 0.88 0.88 0.885982 0.8439 0.999 0.7997 0.8222 0.9601 0.84 1 0.82 0.84 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287093 NA NA NA NA NA 0.92 NA 3.1561 1336 8 38959498 38959498 G A intronic ADAM9 NA NA NA intronic ENSG00000168615 NA NA NA NA NA 8p11.22 NA NA NA NA rs4733905 0.23 0.23 0.22 0.226438 0.2883 0.2024 0.2608 0.1067 0.3252 0.3 0.23 0.27 0.1 0.2678 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311115 NA NA 0.288023 0.136178 ID=COSN168313;OCCURENCE=1(lung),1(large_intestine) 0.261 NA 3.155877 1336 13 99127496 99127496 C T intronic STK24 NA NA NA intronic ENSG00000102572 NA NA NA NA NA 13q32.2 NA NA NA NA rs2274055 0.25 0.25 0.263 0.250998 0.2952 0.1389 0.2161 0.3525 0.2086 0.3 0.12 0.22 0.34 0.2619 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662393 NA NA 0.287093 0.337721 NA 0.188 NA 3.155807 1336 17 7705344 7705344 G C intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs8073196 0.16 0.16 0.134 0.122604 0.3131 0.001 0.2003 0.0348 0.1155 0.32 0.0017 0.26 0.04 0.2235 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976675 NA NA 0.307674 0.081253 NA 0.174 NA 3.155726 1336 15 101589765 101589765 T G intronic LRRK1 NA NA NA intronic ENSG00000154237 NA NA NA NA NA 15q26.3 NA NA NA NA rs897484 0.83 0.83 0.79 0.828474 0.8449 0.9623 0.902 0.6263 0.8947 0.85 0.96 0.89 0.59 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37734 NA NA NA NA NA 0.812 NA 3.1551 1337 19 49340858 49340858 C T intronic PLEKHA4 NA NA NA intronic ENSG00000105559 NA NA NA NA NA 19q13.33 NA NA NA NA rs10407029 0.36 0.36 0.351 0.405152 0.2783 0.1131 0.3112 0.7912 0.3814 0.27 0.14 0.35 0.75 0.3087 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406704 NA NA 0.258504 0.702321 NA 0.457 NA 3.154496 1337 19 13220703 13220703 C G intronic TRMT1 NA NA NA intronic ENSG00000104907 NA NA NA NA NA 19p13.2 NA NA NA NA rs35601737 0.16 0.16 0.132 0.117812 0.3121 0.002 0.183 0.059 0.0706 0.3 0.0017 0.23 0.07 0.2251 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206546 NA NA 0.308605 0.105992 NA 0.297 NA 3.154195 1337 22 40415140 40415140 C T intronic FAM83F NA NA NA intronic ENSG00000133477 NA NA NA NA NA 22q13.1 NA NA NA NA rs2071771 0.23 0.23 0.235 0.272165 0.2863 0.0853 0.1556 0.3464 0.4325 0.3 0.08 0.16 0.35 0.2694 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537249 NA NA 0.290116 0.293917 NA 0.261 NA 3.154184 1337 1 226551529 226551529 C G intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA NA NA NA rs752307 0.74 0.74 0.772 0.782348 0.8459 0.5645 0.6441 0.8858 0.8998 0.83 0.55 0.67 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070929 NA NA NA NA NA 0.783 NA 3.1541 1337 1 226566726 226566726 A C intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA NA NA NA rs907190 0.71 0.71 0.725 0.741214 0.8459 0.5179 0.6427 0.8328 0.8098 0.83 0.48 0.67 0.81 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24066 NA NA NA NA NA 0.775 NA 3.1541 1337 2 168572098 168572098 A G intergenic XIRP2,B3GALT1 dist=455837;dist=103084 NA NA ncRNA_exonic ENSG00000214211 NA NA NA NA NA 2q24.3 NA NA NA NA rs10192010 0.77 0.77 0.732 0.770966 0.8459 0.8294 0.9092 0.5023 0.8988 0.86 0.8 0.89 0.53 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189575 NA NA NA NA NA 0.551 NA 3.1541 1337 17 16745114 16745114 T A intergenic KRT16P2,TNFRSF13B dist=8967;dist=97284 NA NA ncRNA_exonic ENSG00000131885 NA NA NA NA NA 17p11.2 NA NA NA NA rs2656382 0.91 0.91 0.893 0.923323 0.8459 1 0.9078 0.8994 0.9673 0.85 0.99 0.91 0.92 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220332 NA NA NA NA NA NA NA 3.1541 1337 18 53252388 53252388 G A intronic TCF4 NA NA NA intronic ENSG00000196628 NA NA NA NA NA 18q21.2 NA NA NA NA rs599550 0.93 0.93 0.931 0.93151 0.8459 0.996 0.9452 0.9939 0.8589 0.84 1 0.93 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.900047 NA NA NA NA NA 0.841 NA 3.1541 1337 3 184075958 184075958 C T intronic CLCN2 NA NA NA intronic ENSG00000114859,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs41266271 0.15 0.15 0.131 0.152955 0.3052 0.0476 0.1916 0.0227 0.2536 0.29 0.02 0.24 0.03 0.2329 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211544 NA NA 0.307907 0.063777 NA 0.297 NA 3.153993 1337 11 118919206 118919206 T C exonic HYOU1 NA synonymous SNV HYOU1:NM_001130991:exon19:c.A2235G:p.A745A,HYOU1:NM_006389:exon19:c.A2235G:p.A745A exonic ENSG00000149428 NA synonymous SNV ENSG00000149428:ENST00000529972:exon18:c.A2049G:p.A683A,ENSG00000149428:ENST00000404233:exon19:c.A2235G:p.A745A,ENSG00000149428:ENST00000525859:exon19:c.A2049G:p.A683A NA NA 11q23.3 NA NA NA NA rs568922 0.79 0.79 0.784 0.803914 0.841 0.9454 0.6196 0.6694 0.9325 0.82 0.95 0.68 0.62 0.8172 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906485 NA NA 0.854598 0.6775 NA 0.812 NA 3.1538686 1337 21 43338933 43338933 A T intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA NA NA NA rs12483229 0.24 0.24 0.217 0.227636 0.2883 0.1558 0.2248 0.2284 0.2403 0.28 0.16 0.25 0.26 0.2717 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517839 NA NA 0.286163 0.253972 NA 0.319 NA 3.153837 1337 20 47682893 47682893 C T intronic CSE1L NA NA NA intronic ENSG00000124207 NA NA NA NA NA 20q13.13 NA NA NA NA rs2246266 0.31 0.31 0.274 0.290935 0.2753 0.4802 0.3573 0.0764 0.3548 0.27 0.51 0.32 0.12 0.3017 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113402 NA NA 0.269186 0.12256 NA 0.37 NA 3.153814 1337 12 71519096 71519096 G C UTR3 TSPAN8 NM_004616:c.*18C>G NA NA UTR3 ENSG00000127324 ENST00000393330:c.*18C>G,ENST00000247829:c.*18C>G,ENST00000546561:c.*18C>G,ENST00000552128:c.*18C>G NA NA NA NA 12q21.1 NA NA NA NA rs1051344 0.29 0.29 0.29 0.258786 0.4145 0.2887 0.2421 0.121 0.2658 0.41 0.31 0.28 0.11 0.3491 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109351 NA NA 0.416628 0.190422 NA 0.268 NA 3.1531054 1337 2 74900495 74900495 G A intronic SEMA4F NA NA NA intronic ENSG00000135622 NA NA NA NA NA 2p13.1 NA NA NA NA rs205648 0.53 0.53 0.5 0.510783 0.8469 0.1736 0.6844 0.2965 0.6789 0.85 0.17 0.73 0.31 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.960974 1.960974 NA NA NA NA 0.63 NA 3.1531 1337 2 168572093 168572093 G T intergenic XIRP2,B3GALT1 dist=455832;dist=103089 NA NA ncRNA_exonic ENSG00000214211 NA NA NA NA NA 2q24.3 NA NA NA NA rs10168562 0.78 0.78 0.745 0.783746 0.8469 0.8135 0.9121 0.5613 0.8978 0.86 0.78 0.89 0.59 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512726 NA NA NA NA NA 0.587 NA 3.1531 1337 3 53220569 53220569 G A intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA rs45596236 0.29 0.29 0.279 0.282348 0.2873 0.2202 0.2925 0.3411 0.2546 0.3 0.22 0.3 0.35 0.2759 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552605 NA NA 0.283837 0.32138 NA 0.232 NA 3.152963 1337 6 5000779 5000779 G A intronic RPP40 NA NA NA intronic ENSG00000124787 NA NA NA NA NA 6p25.1 NA NA NA NA rs7744457 0.32 0.32 0.305 0.353235 0.2823 0.1687 0.3242 0.556 0.363 0.27 0.16 0.34 0.57 0.3007 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586505 NA NA 0.264131 0.495007 NA 0.399 NA 3.152869 1337 17 80367206 80367206 G A intronic OGFOD3 NA NA NA intronic ENSG00000181396 NA NA NA NA NA 17q25.3 NA NA NA NA rs62080965 0.14 0.14 0.129 0.134984 0.2972 0.005 0.1499 0.031 0.2321 0.3 0.0035 0.17 0.04 0.2368 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079709 NA NA 0.313372 0.073536 NA 0.094 NA 3.152628 1337 1 53558270 53558270 A G exonic SLC1A7 NA synonymous SNV SLC1A7:NM_006671:exon7:c.T987C:p.R329R exonic ENSG00000162383 NA synonymous SNV ENSG00000162383:ENST00000371494:exon7:c.T987C:p.R329R NA NA 1p32.3 NA NA NA NA rs1288406 0.86 0.86 0.841 0.846046 0.835 0.9544 0.9207 0.7383 0.8384 0.84 0.95 0.91 0.76 0.8389 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.979878 NA NA 0.840233 0.761462 NA 0.804 NA 3.1525336 1337 19 53302899 53302899 G C UTR3 ZNF28 NM_006969:c.*42C>G NA NA UTR3 ENSG00000198538 ENST00000457749:c.*42C>G,ENST00000438150:c.*42C>G,ENST00000360272:c.*42C>G,ENST00000414252:c.*42C>G NA NA NA NA 19q13.41 NA NA NA NA rs9917046 0.69 0.69 0.757 0.682109 0.7107 0.6558 0.6182 0.7156 0.68 0.7 0.73 0.65 0.67 0.4701 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494116 NA NA NA NA NA 0.116 NA 3.1525334 1337 2 70906115 70906115 C A intronic ADD2 NA NA NA intronic ENSG00000075340 NA NA NA NA NA 2p13.3 NA NA NA NA rs2074815 0.36 0.36 0.343 0.352436 0.2724 0.379 0.268 0.4652 0.3149 0.28 0.35 0.32 0.52 0.2987 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018538 NA NA 0.276395 0.444394 NA 0.37 NA 3.152505 1337 3 108117694 108117694 G A intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs13087507 0.2 0.2 0.196 0.200679 0.3111 0.0119 0.1931 0.2292 0.2485 0.32 0.0035 0.23 0.22 0.2482 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157544 NA NA 0.288462 0.225485 NA 0.203 NA 3.152238 1337 12 51737520 51737520 G T intronic CELA1 NA NA NA intronic ENSG00000139610 NA NA NA NA NA 12q13.13 NA NA NA NA rs17860301 0.15 0.15 0.131 0.14377 0.2873 0.0417 0.1772 0.0809 0.1626 0.26 0.03 0.19 0.09 0.2524 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111746 NA NA 0.30814 0.116659 NA 0.254 NA 3.15216 1337 2 109292280 109292280 T C intronic LIMS1 NA NA NA intronic ENSG00000169756 NA NA NA NA NA 2q12.3 NA NA NA NA rs7584953 0.86 0.86 0.828 0.866014 0.8479 0.9871 0.9236 0.7012 0.9417 0.85 0.98 0.91 0.68 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566382 NA NA NA NA NA 0.616 NA 3.1521 1337 16 148352 148352 G A intronic NPRL3 NA NA NA intronic ENSG00000103148 NA NA NA NA NA 16p13.3 NA NA NA NA rs2541616 0.8 0.8 0.786 0.81849 0.8479 0.6746 0.8559 0.8502 0.8671 0.85 0.65 0.85 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788807 NA NA NA NA NA 0.797 NA 3.1521 1337 21 34929422 34929422 T C intronic SON NA NA NA intronic ENSG00000159140 NA NA NA NA NA 21q22.11 NA NA NA NA rs2070389 0.21 0.21 0.187 0.192292 0.3091 0.1657 0.2507 0.0741 0.2178 0.3 0.15 0.28 0.08 0.2576 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.875244 NA NA 0.281228 0.105084 NA 0.094 NA 3.152072 1337 14 68046602 68046602 C T intronic PLEKHH1 NA NA NA intronic ENSG00000054690 NA NA NA NA NA 14q24.1 NA NA NA NA rs6573782 0.22 0.22 0.191 0.211062 0.2813 0.246 0.1974 0.093 0.272 0.29 0.25 0.19 0.09 0.2907 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.952959 4.952959 NA 0.276003 0.118 NA 0.181 NA 3.151997 1337 6 110106234 110106234 A G intronic FIG4 NA NA NA intronic ENSG00000112367 NA NA NA Score=553;Name=lod=235 NA 6q21 NA NA NA NA rs10499054 0.43 0.43 0.4 0.358826 0.6531 0.3214 0.4928 0.1195 0.3231 0.65 0.33 0.55 0.11 0.5265 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719599 1.719599 NA 0.668916 0.212438 NA 0.42 NA 3.151484 1337 13 23701560 23701560 T C intergenic BASP1P1,SGCG dist=229240;dist=53500 NA NA intergenic ENSG00000223116,ENSG00000233440 dist=149424;dist=6753 NA NA NA NA 13q12.12 NA NA NA NA rs113190865 0.12 0.12 0.09 0.107029 0.1819 0.0536 0.1124 0.0998 0.091 0.18 0.05 0.15 0.11 NA 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440452 NA NA NA NA NA 0.196 NA 3.1514334 1337 1 67648460 67648460 T C intronic IL23R NA NA NA intronic ENSG00000162594,ENSG00000203963 NA NA NA NA NA 1p31.3 NA NA NA NA rs6687620 0.93 0.93 0.927 0.952077 0.8489 0.996 0.928 0.9955 0.9714 0.84 0.99 0.92 0.99 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67383 NA NA NA NA NA 0.935 NA 3.1511 1337 2 98846405 98846405 A T intronic VWA3B NA NA NA intronic ENSG00000168658 NA NA NA NA NA 2q11.2 NA NA NA NA rs12712252 0.91 0.91 0.912 0.928115 0.8489 0.9782 0.8934 0.9508 0.9519 0.85 0.97 0.9 0.94 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.574402 2.574402 NA NA NA NA 0.913 NA 3.1511 1337 15 99500256 99500256 G A intronic IGF1R NA NA NA ncRNA_intronic ENSG00000259475 NA NA NA NA NA 15q26.3 NA NA NA NA rs2593053 0.29 0.29 0.293 0.287939 0.4185 0.2609 0.2752 0.1248 0.411 0.4 0.26 0.31 0.15 0.3552 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12584 NA NA 0.409123 0.160674 NA 0.246 NA 3.1505103 1337 2 74344119 74344119 C G intergenic TET3,BOLA3 dist=8817;dist=18409 NA NA intergenic ENSG00000187605,ENSG00000257800 dist=8816;dist=3688 NA NA NA NA 2p13.1 NA NA NA NA rs72911122 0.3 0.3 0.299 0.307508 0.1829 0.3671 0.3934 0.3306 0.2822 0.18 0.4 0.36 0.33 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.457676 1.457676 NA NA NA NA 0.319 NA 3.1504334 1337 17 21207916 21207916 A G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA Name=ZNF274 NA NA rs7209761 NA NA 0.776 0.64976 0.5318 0.5754 0.487 0.8298 0.7198 NA NA NA NA 0.6664 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179406 NA NA 0.651395 0.823423 NA 0.783 NA 3.150405 1337 12 131569234 131569234 G A intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs2293656 0.26 0.26 0.258 0.232628 0.2922 0.1002 0.232 0.3767 0.1135 0.27 0.12 0.26 0.4 0.2616 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220565 NA NA 0.296163 0.343395 NA 0.435 NA 3.150037 1337 20 55025762 55025762 G A intronic CASS4 NA NA NA intronic ENSG00000087589 NA NA NA NA NA 20q13.31 NA NA NA NA rs6069753 0.46 0.46 0.484 0.464457 0.2555 0.5069 0.4121 0.8056 0.2117 0.24 0.54 0.36 0.78 0.3331 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498957 NA NA 0.261395 0.727417 NA 0.406 NA 3.150005 1337 9 82267732 82267732 C G intronic TLE4 NA NA NA intronic ENSG00000106829 NA NA NA NA NA 9q21.31 NA NA Name=33 NA rs2297499 0.55 0.55 0.51 0.549521 0.6083 0.7401 0.6585 0.1679 0.7311 0.62 0.72 0.62 0.21 0.6198 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.64977 1.64977 NA 0.62211 0.289188 NA 0.507 NA 3.14979 1337 17 72844165 72844165 C T intronic GRIN2C NA NA NA intronic ENSG00000161509 NA NA NA NA NA 17q25.1 NA NA NA NA rs3744193 0.29 0.29 0.289 0.273363 0.2932 0.379 0.1787 0.2345 0.2638 0.3 0.4 0.19 0.24 0.2759 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363208 NA NA 0.281628 0.264866 NA 0.246 NA 3.149272 1337 2 20440860 20440860 C T intergenic SDC1,PUM2 dist=15666;dist=7593 NA NA upstream ENSG00000235411 NA NA NA NA NA 2p24.1 NA NA NA NA rs7595266 0.28 0.28 0.287 0.267772 0.3509 0.2004 0.2925 0.2073 0.316 0.36 0.22 0.32 0.2 NA 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282398 NA NA NA NA NA 0.239 NA 3.1491 1337 12 48386577 48386577 G T intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs1793915 0.68 0.68 0.655 0.674521 0.8509 0.5575 0.6354 0.5968 0.7464 0.85 0.57 0.65 0.57 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278794 NA NA NA NA NA 0.746 NA 3.1491 1337 15 90293701 90293701 G A intronic MESP1 NA NA NA intronic ENSG00000166823 NA NA NA NA NA 15q26.1 NA NA NA NA rs2305442 0.19 0.19 0.203 0.194289 0.2644 0.12 0.183 0.1241 0.3016 0.27 0.13 0.19 0.11 0.3319 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.37995 NA NA 0.254683 0.123626 NA 0.043 NA 3.149017 1337 10 121564859 121564859 A G intronic INPP5F NA NA NA intronic ENSG00000198825 NA NA NA NA NA 10q26.11 NA NA NA NA rs2273748 0.32 0.32 0.316 0.273363 0.2555 0.5466 0.3314 0.1142 0.184 0.26 0.56 0.31 0.13 0.3119 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105428 NA NA 0.284035 0.138448 ID=COSN163777;OCCURENCE=1(breast) 0.21 NA 3.148565 1337 3 20219885 20219885 C T ncRNA_intronic SGOL1-AS1 NA NA NA ncRNA_intronic ENSG00000237485 NA NA NA NA NA 3p24.3 NA NA NA NA rs6550402 0.7 0.7 0.688 0.70008 0.4861 0.9444 0.7046 0.6785 0.6943 0.48 0.97 0.67 0.72 0.5733 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.977325 NA NA 0.459003 0.641398 NA 0.616 NA 3.1482636 1337 2 97020170 97020170 A C intronic NCAPH NA NA NA intronic ENSG00000121152 NA NA NA NA NA 2q11.2 NA NA NA NA rs3731936 0.2 0.2 0.199 0.278954 0.2763 0.2232 0.2334 0.0408 0.6933 0.27 0.2 0.24 0.05 0.2917 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815558 NA NA 0.283768 0.077848 NA 0.152 NA 3.148232 1337 3 10241987 10241987 A C intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs263410 0.68 0.68 0.647 0.650958 0.8519 0.3542 0.7781 0.6747 0.6278 0.85 0.4 0.79 0.66 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3308 NA NA NA NA NA 0.739 NA 3.1481 1337 7 20430960 20430960 T C intronic ITGB8 NA NA NA intronic ENSG00000105855 NA NA NA NA NA 7p21.1 NA NA NA NA rs3779506 0.78 0.78 0.776 0.794728 0.8519 0.6032 0.8444 0.8192 0.865 0.84 0.61 0.85 0.83 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188003 NA NA NA NA NA 0.87 NA 3.1481 1337 16 75269267 75269267 A G exonic BCAR1 NA synonymous SNV BCAR1:NM_001170721:exon4:c.T900C:p.A300A,BCAR1:NM_001170715:exon5:c.T1584C:p.A528A,BCAR1:NM_001170716:exon5:c.T1584C:p.A528A,BCAR1:NM_001170717:exon5:c.T1584C:p.A528A,BCAR1:NM_001170718:exon5:c.T1530C:p.A510A,BCAR1:NM_001170719:exon5:c.T1524C:p.A508A,BCAR1:NM_014567:exon5:c.T1530C:p.A510A,BCAR1:NM_001170714:exon6:c.T1668C:p.A556A,BCAR1:NM_001170720:exon6:c.T1086C:p.A362A exonic ENSG00000050820 NA synonymous SNV ENSG00000050820:ENST00000162330:exon5:c.T1530C:p.A510A,ENSG00000050820:ENST00000393420:exon5:c.T1584C:p.A528A,ENSG00000050820:ENST00000393422:exon5:c.T1584C:p.A528A,ENSG00000050820:ENST00000420641:exon5:c.T1584C:p.A528A,ENSG00000050820:ENST00000538440:exon5:c.T1530C:p.A510A,ENSG00000050820:ENST00000542031:exon5:c.T1524C:p.A508A,ENSG00000050820:ENST00000546196:exon5:c.T1443C:p.A481A,ENSG00000050820:ENST00000418647:exon6:c.T1668C:p.A556A,ENSG00000050820:ENST00000535626:exon6:c.T1086C:p.A362A NA NA 16q23.1 NA NA NA NA rs3169330 0.91 0.91 0.897 0.926318 0.83 0.996 0.915 0.9455 0.9356 0.82 0.99 0.91 0.96 0.8735 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.330494 NA NA 0.815192 0.904664 NA 0.79 NA 3.1479746 1337 17 48539763 48539763 C A intronic ACSF2 NA NA NA intronic ENSG00000167107 NA NA NA NA NA 17q21.33 NA NA NA NA rs2277631 0.22 0.22 0.18 0.183307 0.2952 0.1369 0.245 0.0862 0.2035 0.28 0.14 0.3 0.13 0.2547 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.618659 1.618659 NA 0.302558 0.128007 NA 0.116 NA 3.147542 1337 16 10775822 10775822 G T intronic TEKT5 NA NA NA intronic ENSG00000153060 NA NA NA NA NA 16p13.13 NA NA NA NA rs10221070 0.3 0.3 0.309 0.323482 0.2614 0.251 0.2205 0.475 0.3303 0.27 0.28 0.2 0.43 0.297 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126394 NA NA 0.29407 0.443787 NA 0.377 NA 3.14753 1337 14 77889040 77889040 T C intronic NOXRED1 NA NA NA intronic ENSG00000165555 NA NA NA NA NA 14q24.3 NA NA NA NA rs8017215 0.25 0.25 0.252 0.25 0.3042 0.0506 0.1873 0.4191 0.2157 0.32 0.04 0.22 0.4 0.263 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.760075 1.760075 NA 0.285349 0.402633 NA 0.319 NA 3.147451 1337 2 107446396 107446396 T C intronic ST6GAL2 NA NA NA intronic ENSG00000144057 NA NA NA NA NA 2q12.2 NA NA NA NA rs877693 0.86 0.86 0.869 0.846645 0.8529 0.9196 0.9035 0.7564 0.8466 0.86 0.93 0.89 0.74 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640038 NA NA NA NA NA 0.884 NA 3.1471 1337 15 33925364 33925364 G A intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2291732 0.77 0.77 0.764 0.747005 0.8529 0.6647 0.8329 0.7428 0.6677 0.86 0.67 0.82 0.72 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745822 NA NA NA NA NA 0.703 NA 3.1471 1337 19 53754736 53754736 T C intronic ZNF677 NA NA NA intronic ENSG00000197928 NA NA NA NA NA 19q13.42 NA NA NA NA rs2965240 0.5 0.5 0.492 0.513978 0.4334 0.752 0.4438 0.3926 0.5654 0.43 0.75 0.46 0.35 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374645 NA NA 0.419862 0.41474 NA 0.406 NA 3.146738 1337 7 4839163 4839163 A C intronic RADIL NA NA NA intronic ENSG00000157927 NA NA NA NA NA 7p22.1 NA NA NA NA rs3736241 0.35 0.35 0.392 0.422923 0.2793 0.1736 0.3314 0.7799 0.41 0.27 0.16 0.31 0.74 0.3214 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091694 NA NA 0.253085 0.646923 NA 0.413 NA 3.146215 1337 10 98311190 98311190 G T intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs10882816 0.27 0.27 0.215 0.24381 0.2803 0.3294 0.245 0.1346 0.2648 0.29 0.35 0.27 0.15 0.2714 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.527747 NA NA 0.302117 0.150318 NA 0.181 NA 3.146183 1337 4 169183789 169183789 A G intronic DDX60 NA NA NA intronic ENSG00000137628 NA NA NA NA NA 4q32.3 NA NA Name=3 NA rs6552581 0.62 0.62 0.659 0.644169 0.6322 0.379 0.5548 0.9743 0.547 0.61 0.37 0.57 0.98 0.6062 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152464 NA NA 0.615465 0.914169 ID=COSN167369;OCCURENCE=1(large_intestine) 0.616 NA 3.146135 1337 9 132963115 132963115 T G intronic NCS1 NA NA NA intronic ENSG00000107130 NA NA NA NA NA 9q34.11 NA NA NA NA rs887534 0.88 0.88 0.86 0.872804 0.8539 0.9573 0.817 0.8661 0.8538 0.88 0.94 0.82 0.84 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670137 NA NA NA NA NA 0.877 NA 3.1461 1337 17 72832032 72832032 C G intronic TMEM104 NA NA NA intronic ENSG00000109066 NA NA NA NA NA 17q25.1 NA NA NA NA rs72851753 0.29 0.29 0.281 0.263978 0.2952 0.379 0.1772 0.1891 0.2761 0.3 0.4 0.18 0.22 0.2765 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.427649 NA NA 0.282442 0.213345 NA 0.232 NA 3.145858 1337 17 10250972 10250972 G T intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs12602139 0.92 0.92 0.911 0.91234 0.8549 0.9673 0.8876 0.9728 0.8507 0.86 0.97 0.89 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.261715 NA NA NA NA NA 0.848 NA 3.1451 1338 10 101474499 101474499 T C intronic COX15 NA NA NA intronic ENSG00000014919 NA NA NA NA NA 10q24.2 NA NA NA NA rs11190255 0.26 0.26 0.246 0.233427 0.3022 0.2956 0.2147 0.1853 0.1769 0.31 0.28 0.22 0.2 0.2572 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.048324 3.048324 NA 0.295698 0.1936 NA 0.21 NA 3.144902 1338 3 135768232 135768232 T A intronic PPP2R3A NA NA NA intronic ENSG00000073711 NA NA NA NA NA 3q22.3 NA NA NA NA rs67039922 0.15 0.15 0.137 0.160543 0.2783 0.0278 0.1412 0.1051 0.2648 0.27 0.02 0.16 0.1 0.2628 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.859963 1.859963 NA 0.314186 0.142987 NA 0.181 NA 3.144714 1338 1 109428249 109428249 G A intronic GPSM2 NA NA NA intronic ENSG00000121957,ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs10857987 0.28 0.28 0.294 0.298323 0.2942 0.0546 0.2118 0.5635 0.2566 0.3 0.05 0.25 0.55 0.2828 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811359 NA NA 0.278347 0.51793 NA 0.268 NA 3.144653 1338 19 55623806 55623806 C T intronic PPP1R12C NA NA NA intronic ENSG00000125503 NA NA NA NA NA 19q13.42 NA NA NA NA rs604216 0.23 0.23 0.188 0.188299 0.2962 0.2748 0.3084 0.0356 0.1094 0.29 0.26 0.28 0.04 0.268 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037775 NA NA 0.291531 0.06267 NA 0.203 NA 3.144269 1338 17 16722068 16722068 A C intergenic USP32P1,KRT16P2 dist=14249;dist=11729 NA NA ncRNA_intronic ENSG00000226145 NA NA NA NA NA 17p11.2 NA NA NA NA rs2688023 0.91 0.91 0.926 0.9377 0.8559 1 0.9207 0.9455 0.9591 0.86 0.99 0.92 0.89 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133809 NA NA NA NA NA 0.833 NA 3.1441 1338 17 16723212 16723212 C T intergenic USP32P1,KRT16P2 dist=15393;dist=10585 NA NA ncRNA_intronic ENSG00000226145 NA NA NA NA NA 17p11.2 NA NA NA NA rs2688022 0.91 0.91 0.947 0.941294 0.8559 1 0.9179 0.9599 0.9601 0.86 0.99 0.92 0.9 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397422 NA NA NA NA NA 0.87 NA 3.1441 1338 22 19870831 19870831 C T intronic TXNRD2 NA NA NA intronic ENSG00000184470 NA NA NA NA NA 22q11.21 NA NA NA NA rs2239893 0.25 0.25 0.226 0.221645 0.2903 0.2758 0.2435 0.1233 0.2127 0.29 0.31 0.25 0.11 0.2694 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508203 NA NA 0.296209 0.158158 NA 0.21 NA 3.144091 1338 2 241708675 241708675 C T intronic KIF1A NA NA NA intronic ENSG00000130294 NA NA NA NA NA 2q37.3 NA NA NA NA rs2288753 0.34 0.34 0.359 0.335264 0.2833 0.5714 0.268 0.2648 0.2883 0.28 0.56 0.22 0.24 0.309 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699655 NA NA 0.263616 0.233478 NA 0.391 NA 3.144084 1338 22 32266546 32266546 A T intronic DEPDC5 NA NA NA intronic ENSG00000100150 NA NA NA NA NA 22q12.3 NA NA NA NA rs5994441 0.32 0.32 0.318 0.35024 0.2873 0.1627 0.317 0.5598 0.3487 0.28 0.15 0.31 0.58 0.305 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220368 NA NA 0.263838 0.495182 NA 0.377 NA 3.143862 1338 11 61179285 61179285 G A exonic CPSF7 NA synonymous SNV CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I exonic ENSG00000149532 NA synonymous SNV ENSG00000149532:ENST00000448745:exon7:c.C1182T:p.I394I,ENSG00000149532:ENST00000340437:exon8:c.C1338T:p.I446I,ENSG00000149532:ENST00000394888:exon8:c.C1209T:p.I403I,ENSG00000149532:ENST00000439958:exon8:c.C1182T:p.I394I,ENSG00000149532:ENST00000477890:exon9:c.C981T:p.I327I NA NA 11q12.2 NA NA NA NA rs3019198 0.76 0.76 0.723 0.719649 0.8549 0.9712 0.8386 0.295 0.8108 0.86 0.97 0.84 0.29 0.8189 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333822 1.333822 NA 0.849384 0.373751 NA 0.659 NA 3.1434826 1338 20 47585642 47585642 T C intronic ARFGEF2 NA NA NA intronic ENSG00000124198 NA NA NA NA NA 20q13.13 NA NA NA NA rs3764683 0.37 0.37 0.315 0.371406 0.2753 0.4812 0.3948 0.357 0.3599 0.27 0.52 0.37 0.36 0.322 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632945 NA NA 0.259302 0.369042 NA 0.493 NA 3.143398 1338 2 79314081 79314081 T C intronic REG1B NA NA NA intronic ENSG00000172023 NA NA NA NA NA 2p12 NA NA NA NA rs6738657 0.22 0.22 0.221 0.203275 0.3072 0.0962 0.1599 0.2405 0.1871 0.31 0.11 0.2 0.22 0.2485 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137678 NA NA 0.30093 0.244439 NA 0.261 NA 3.14337 1338 21 15554030 15554030 T C intronic LIPI NA NA NA intronic ENSG00000188992 NA NA NA NA NA 21q11.2 NA NA NA NA rs2822438 0.26 0.26 0.251 0.241414 0.2942 0.1012 0.3401 0.3169 0.1595 0.3 0.11 0.35 0.31 0.2693 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186771 NA NA 0.293256 0.297911 NA 0.333 NA 3.143244 1338 4 55156400 55156400 A G intronic PDGFRA NA NA NA intronic ENSG00000134853,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs2276948 0.74 0.74 0.728 0.70028 0.8569 0.8274 0.7133 0.4372 0.7546 0.85 0.83 0.75 0.46 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850923 NA NA NA NA NA 0.659 NA 3.1431 1338 22 27004089 27004089 A C intronic CRYBB1 NA NA NA intronic ENSG00000100122 NA NA NA NA NA 22q12.1 NA NA NA NA rs5761626 0.92 0.92 0.911 0.921326 0.8569 0.994 0.8905 0.9259 0.9284 0.85 1 0.9 0.94 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319852 NA NA NA NA NA 0.833 NA 3.1431 1338 15 34113592 34113592 T G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2288615 0.23 0.23 0.2 0.200879 0.3032 0.2619 0.2291 0.0567 0.2076 0.32 0.25 0.24 0.06 0.2912 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230801 NA NA 0.262629 0.079465 NA 0.225 NA 3.142971 1338 1 54370306 54370306 G A intronic DIO1 NA NA NA intronic ENSG00000211452 NA NA NA NA NA 1p32.3 NA NA NA NA rs2294512 0.4 0.4 0.385 0.416534 0.2545 0.627 0.2651 0.5038 0.3558 0.25 0.62 0.29 0.46 0.3378 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619013 NA NA 0.264841 0.471517 NA 0.348 NA 3.142859 1338 9 74845989 74845989 C A intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA NA NA NA rs10869150 0.31 0.31 0.289 0.308906 0.2773 0.5397 0.2781 0.1074 0.3978 0.28 0.56 0.24 0.11 0.3013 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546174 NA NA 0.278837 0.152973 NA 0.203 NA 3.142563 1338 4 100268131 100268131 C T intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs3762896 0.43 0.43 0.475 0.477436 0.2594 0.7639 0.1844 0.4818 0.6084 0.26 0.77 0.18 0.49 0.3325 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120307 NA NA 0.265581 0.440309 NA 0.435 NA 3.142519 1338 11 60201232 60201232 T C intronic MS4A5 NA NA NA intronic ENSG00000166930 NA NA NA NA NA 11q12.2 NA NA NA NA rs3763845 0.2 0.2 0.172 0.18111 0.2903 0.1448 0.3285 0.0393 0.1933 0.29 0.15 0.27 0.06 0.2751 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636144 NA NA 0.292442 0.075806 NA 0.159 NA 3.142158 1338 3 49884913 49884913 C T intronic TRAIP NA NA NA intronic ENSG00000183763 NA NA NA NA NA 3p21.31 NA NA NA NA rs13316065 0.21 0.21 0.204 0.204473 0.3042 0.1498 0.2003 0.1362 0.2536 0.3 0.17 0.19 0.13 0.2546 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332492 NA NA 0.29907 0.163414 NA 0.159 NA 3.14213 1338 5 5189950 5189950 G A intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs6859975 0.88 0.88 0.883 0.894369 0.8579 0.8026 0.9236 0.975 0.8967 0.85 0.83 0.89 0.98 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56041 NA NA NA NA NA 0.978 NA 3.1421 1338 7 6875278 6875278 C G intergenic CCZ1B,LOC100131257 dist=9352;dist=240123 NA NA intergenic ENSG00000146574,ENSG00000155070 dist=8877;dist=19838 NA NA NA NA 7p22.1 NA NA NA NA rs13234838 0.15 0.15 0.117 0.15595 0.1918 0.247 0.1455 0.025 0.2096 0.17 0.21 0.16 0.02 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416286 NA NA NA NA NA 0.043 NA 3.1415334 1338 8 82627395 82627395 A C intronic ZFAND1 NA NA NA intronic ENSG00000104231 NA NA NA NA NA 8q21.13 NA NA NA NA rs58900840 0.45 0.45 0.454 0.415935 0.2734 0.8065 0.3026 0.3616 0.3139 0.27 0.82 0.32 0.39 0.3299 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081327 NA NA 0.255408 0.347254 NA 0.326 NA 3.141292 1338 9 74846104 74846104 A G intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA NA NA NA rs17057536 0.31 0.31 0.284 0.309105 0.2783 0.5397 0.2781 0.1074 0.3978 0.28 0.56 0.24 0.11 0.3016 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230278 NA NA 0.278837 0.153427 NA 0.203 NA 3.141263 1338 11 6220376 6220376 G C upstream OR52W1 NA NA NA UTR5 ENSG00000175485 ENST00000311352:c.-78G>C NA NA NA NA 11p15.4 NA NA NA NA rs325610 0.81 0.81 0.795 0.765176 0.8588 0.9692 0.8012 0.4909 0.8037 0.85 0.98 0.83 0.52 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.345791 1.345791 NA NA NA NA 0.797 NA 3.1412 1338 15 48539026 48539026 A T intronic SLC12A1 NA NA NA intronic ENSG00000074803 NA NA NA NA NA 15q21.1 NA NA NA NA rs11636073 0.55 0.55 0.5 0.530351 0.8588 0.2242 0.7378 0.2769 0.7035 0.87 0.2 0.75 0.3 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451876 NA NA NA NA NA 0.536 NA 3.1412 1338 2 136873549 136873549 A T UTR5 CXCR4 NM_001008540:c.-40T>A NA NA UTR5 ENSG00000121966 ENST00000409817:c.-40T>A NA NA NA NA 2q22.1 NA NA NA NA rs2680880 0.19 0.19 0.103 0.169728 0.4175 0.002 0.245 0.0257 0.229 0.42 NA 0.25 0.03 0.3616 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.963051 NA NA 0.413136 0.086225 NA 0.246 NA 3.1410974 1338 10 53814383 53814383 C T intronic PRKG1 NA NA NA intronic ENSG00000185532 NA NA NA NA NA 10q21.1 NA NA NA NA rs12778630 0.35 0.35 0.351 0.333866 0.4155 0.2579 0.3271 0.2973 0.3824 0.41 0.27 0.38 0.32 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277308 NA NA 0.443432 0.330202 NA 0.312 NA 3.141068 1338 11 31327766 31327766 G A intronic DCDC1 NA NA NA ncRNA_intronic ENSG00000255525 NA NA NA NA NA 11p13 NA NA NA NA rs2761592 0.35 0.35 0.334 0.347244 0.4225 0.0714 0.4395 0.4834 0.3047 0.43 0.08 0.45 0.47 0.3836 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.891398 3.891398 NA 0.386226 0.46594 ID=COSN163908;OCCURENCE=1(breast) 0.442 NA 3.1410073 1338 6 29274348 29274348 G A upstream OR14J1 NA NA NA upstream ENSG00000204695 NA NA NA NA NA 6p22.1 NA NA NA NA rs9257693 0.38 0.38 0.346 0.346246 0.5258 0.3323 0.4092 0.1702 0.3691 0.55 0.31 0.42 0.17 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106247 NA NA NA NA NA 0.297 NA 3.1408666 1338 9 133355902 133355902 C A intronic ASS1 NA NA NA intronic ENSG00000130707 NA NA NA NA NA 9q34.11 NA NA NA NA rs2043189 0.32 0.32 0.307 0.277556 0.4155 0.3889 0.3069 0.0749 0.274 0.42 0.38 0.34 0.08 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.153299 NA NA 0.443746 0.116329 NA 0.254 NA 3.140754 1338 17 80053166 80053166 C T intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA NA NA NA rs45555535 0.17 0.17 0.15 0.172923 0.2903 0.0744 0.1859 0.1324 0.1994 0.29 0.07 0.2 0.11 0.2503 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561086 NA NA 0.31906 0.159246 NA 0.145 NA 3.14034 1338 22 43619062 43619062 C G intronic SCUBE1 NA NA NA intronic ENSG00000159307 NA NA NA NA NA 22q13.2 NA NA NA NA rs2071726 0.31 0.31 0.31 0.310903 0.3072 0.4177 0.17 0.2874 0.3364 0.33 0.38 0.19 0.27 0.2794 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24648 NA NA 0.27315 0.294278 NA 0.304 NA 3.14025 1338 2 107446430 107446430 T C intronic ST6GAL2 NA NA NA intronic ENSG00000144057 NA NA NA NA NA 2q12.2 NA NA NA NA rs935565 0.91 0.91 0.919 0.907947 0.8598 0.9196 0.9222 0.972 0.8487 0.86 0.93 0.9 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672472 NA NA NA NA NA 0.928 NA 3.1402 1338 17 48245180 48245180 C T intronic SGCA NA NA NA intronic ENSG00000108823 NA NA NA NA NA 17q21.33 NA NA NA NA rs2696297 0.87 0.87 0.873 0.867013 0.8598 0.9653 0.7911 0.8374 0.8671 0.86 0.96 0.81 0.83 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274285 NA NA NA NA NA 0.819 NA 3.1402 1338 2 37406761 37406761 T C intronic SULT6B1 NA NA NA intronic ENSG00000138068 NA NA NA NA NA 2p22.2 NA NA NA NA rs4459710 0.42 0.42 0.403 0.426118 0.2624 0.8006 0.4207 0.2322 0.4744 0.28 0.79 0.38 0.21 0.3474 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225686 NA NA 0.250581 0.248979 NA 0.442 NA 3.139619 1338 1 6188546 6188546 G A intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs2273034 0.22 0.22 0.191 0.2502 0.2773 0.1875 0.3444 0.0817 0.4479 0.28 0.18 0.31 0.1 0.3017 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787495 NA NA 0.281395 0.111212 NA 0.29 NA 3.139605 1338 8 125107201 125107201 G A exonic FER1L6 NA synonymous SNV FER1L6:NM_001039112:exon35:c.G4617A:p.P1539P exonic ENSG00000214814 NA synonymous SNV ENSG00000214814:ENST00000399018:exon34:c.G4617A:p.P1539P,ENSG00000214814:ENST00000522917:exon35:c.G4617A:p.P1539P NA NA 8q24.13 NA NA NA NA rs6470219 0.73 0.73 0.731 0.718051 0.8678 0.6419 0.683 0.6059 0.819 0.86 0.67 0.71 0.62 0.7988 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188947 NA NA 0.860499 0.646303 NA 0.797 NA 3.1395676 1338 12 3310439 3310439 C T intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA Name=12 NA rs740776 0.54 0.54 0.493 0.538938 0.6412 0.6786 0.5159 0.2678 0.6728 0.65 0.66 0.53 0.24 0.5847 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.54035 2.54035 NA 0.634651 0.312528 NA 0.391 NA 3.139449 1338 3 186938956 186938956 C T intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA NA NA 3q27.3 NA NA NA NA rs3733001 0.45 0.45 0.427 0.469848 0.2406 0.6895 0.4092 0.559 0.4018 0.23 0.71 0.37 0.54 0.3745 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.744881 NA NA 0.245581 0.501135 NA 0.471 NA 3.139319 1338 11 9199650 9199650 C T intronic DENND5A NA NA NA intronic ENSG00000184014 NA NA NA NA NA 11p15.4 NA NA NA NA rs60693427 0.24 0.24 0.276 0.252196 0.3002 0.0109 0.2075 0.4818 0.1728 0.3 0.01 0.23 0.44 0.2675 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.117241 2.117241 NA 0.293063 0.446388 NA 0.261 NA 3.139237 1338 15 62990916 62990916 G A intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs12906130 0.37 0.37 0.345 0.340655 0.2565 0.6835 0.3516 0.1899 0.2699 0.27 0.65 0.34 0.22 0.3159 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719517 NA NA 0.288372 0.204721 NA 0.312 NA 3.139228 1338 17 7830610 7830610 G A intronic KCNAB3 NA NA NA intronic ENSG00000170049,ENSG00000262730 NA NA NA NA NA 17p13.1 NA NA NA NA rs9908139 0.53 0.53 0.5 0.547923 0.4254 0.8036 0.6225 0.3933 0.5665 0.44 0.75 0.56 0.4 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.100143 NA NA 0.435511 0.411352 NA 0.457 NA 3.139089 1338 19 51455814 51455814 A C intronic KLK5 NA NA NA ncRNA_intronic ENSG00000269495 NA NA NA NA NA 19q13.41 NA NA NA NA rs2739412 0.51 0.51 0.472 0.514776 0.3539 0.7163 0.5 0.5242 0.4703 0.36 0.74 0.47 0.51 0.4574 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572827 NA NA 0.38314 0.498411 NA 0.514 NA 3.1388933 1338 15 66816183 66816183 C G intronic ZWILCH NA NA NA intronic ENSG00000174442,ENSG00000174444 NA NA NA NA NA 15q22.31 NA NA NA NA rs6494579 0.89 0.89 0.891 0.913339 0.8618 0.9335 0.8718 0.9478 0.9284 0.85 0.92 0.86 0.94 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001175 NA NA NA NA NA 0.841 NA 3.1382 1338 1 59127193 59127193 C T intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA NA NA 1p32.1 NA NA NA NA rs7525365 0.25 0.25 0.23 0.240016 0.2843 0.3095 0.2392 0.1059 0.3047 0.28 0.32 0.24 0.11 0.2828 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.91888 1.91888 NA 0.29517 0.146162 NA 0.225 NA 3.13773 1338 14 107078567 107078567 T C intergenic LINC00221,NONE dist=127038;dist=NONE NA NA exonic ENSG00000211968 NA nonsynonymous SNV ENSG00000211968:ENST00000390628:exon2:c.A157G:p.M53V NA NA 14q32.33 NA NA NA NA rs2516904 0.46 0.46 0.432 0.386981 0.5974 0.4673 0.5548 0.1445 0.2965 0.6 0.5 0.52 0.15 0.5112 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094358 NA 0.19 0.5873 0.215637 NA 0.471 NA 3.1374334 1338 7 121943642 121943642 A G intronic FEZF1 NA NA NA intronic ENSG00000128610 NA NA NA NA NA 7q31.32 NA NA NA NA rs111662975 0.22 0.22 0.162 0.192891 0.4125 0.001 0.1974 0.1664 0.1973 0.42 NA 0.22 0.18 0.0788 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30871 NA NA 0.371464 0.185694 NA 0.036 NA 3.137236 1338 8 74189562 74189562 T C intergenic LOC100130301,RPL7 dist=17825;dist=13312 NA NA downstream ENSG00000254213 NA NA NA NA NA 8q21.11 NA NA NA NA rs6983289 0.44 0.44 0.387 0.498403 0.3628 0.5258 0.4957 0.4841 0.6309 0.35 0.51 0.48 0.48 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823914 NA NA NA NA NA 0.638 NA 3.1372 1338 19 51856619 51856619 T C intronic ETFB NA NA NA intronic ENSG00000105379,ENSG00000269403 NA NA NA NA NA 19q13.41 NA NA NA NA rs2004309 0.75 0.75 0.745 0.776358 0.8628 0.5218 0.6398 0.9652 0.7914 0.84 0.51 0.68 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.748103 1.748103 NA NA NA NA 0.42 NA 3.1372 1338 19 51856631 51856631 G A intronic ETFB NA NA NA intronic ENSG00000105379,ENSG00000269403 NA NA NA NA NA 19q13.41 NA NA NA NA rs3889312 0.75 0.75 0.689 0.775359 0.8628 0.5188 0.6398 0.9652 0.7894 0.84 0.51 0.68 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761475 NA NA NA NA NA 0.333 NA 3.1372 1338 17 61901641 61901641 T C intronic FTSJ3 NA NA NA intronic ENSG00000108592 NA NA NA NA NA 17q23.3 NA Name=ZNF263 NA NA rs894407 0.68 0.68 0.675 0.726438 0.5984 0.5556 0.6787 0.9569 0.7566 0.6 0.58 0.63 0.96 0.6581 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.217713 NA NA 0.606512 0.894235 NA 0.674 NA 3.136988 1338 17 61901657 61901657 A G intronic FTSJ3 NA NA NA intronic ENSG00000108592 NA NA NA NA NA 17q23.3 NA Name=ZNF263 NA NA rs894406 0.68 0.68 0.672 0.726438 0.5984 0.5556 0.6787 0.9569 0.7566 0.6 0.58 0.63 0.96 0.6581 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.461649 NA NA 0.606512 0.894235 NA 0.674 NA 3.136988 1338 9 32450187 32450187 T C UTR3 ACO1 NM_002197:c.*78T>C NA NA UTR3 ENSG00000122729 ENST00000541043:c.*78T>C,ENST00000379923:c.*78T>C,ENST00000309951:c.*78T>C NA NA NA NA 9p21.1 NA NA NA NA rs12985 0.42 0.42 0.429 0.397963 0.3728 0.5188 0.3948 0.4297 0.2587 0.37 0.48 0.44 0.43 0.4238 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060049 NA NA 0.40005 0.417237 NA 0.399 NA 3.1366834 1338 15 99901749 99901749 C G intronic LRRC28 NA NA NA intronic ENSG00000168904 NA NA NA NA NA 15q26.3 NA NA NA NA rs3817147 0.38 0.38 0.405 0.394569 0.2654 0.378 0.3228 0.5915 0.3292 0.26 0.4 0.33 0.58 0.3224 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.127982 NA NA 0.275541 0.539144 NA 0.348 NA 3.136659 1338 17 7721231 7721231 T C intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs9916791 0.34 0.34 0.315 0.355831 0.2724 0.5843 0.268 0.23 0.4387 0.26 0.56 0.27 0.24 0.3174 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769077 NA NA 0.273605 0.238084 NA 0.275 NA 3.136595 1338 4 69362527 69362527 G C UTR3 TMPRSS11E NM_014058:c.*5G>C NA NA UTR3 ENSG00000087128 ENST00000305363:c.*5G>C NA NA NA NA 4q13.2 NA NA NA NA rs2278920 0.27 0.27 0.25 0.226438 0.4394 0.119 0.3141 0.1256 0.1922 0.44 0.13 0.35 0.13 0.3344 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.476182 NA NA 0.422952 0.174762 NA 0.232 NA 3.1365814 1338 12 132962982 132962982 C T intergenic GALNT9,FBRSL1 dist=57077;dist=104175 NA NA intergenic ENSG00000255916,ENSG00000256783 dist=54821;dist=70764 NA NA NA NA 12q24.33 NA NA NA NA rs59141399 0.17 0.17 0.144 0.146565 0.1968 0.1518 0.2622 0.0348 0.1585 0.21 0.17 0.24 0.05 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.081774 NA NA NA NA NA 0.268 NA 3.1365334 1338 10 5919859 5919859 C T intronic ANKRD16 NA NA NA intronic ENSG00000134461 NA NA NA NA NA 10p15.1 NA NA NA NA rs2985042 0.84 0.84 0.816 0.804113 0.8638 0.8482 0.9135 0.6853 0.7802 0.87 0.84 0.92 0.71 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400867 NA NA NA NA NA 0.812 NA 3.1362 1338 10 5919947 5919947 C T intronic ANKRD16 NA NA NA intronic ENSG00000134461 NA NA NA NA NA 10p15.1 NA NA NA NA rs2985043 0.84 0.84 0.812 0.803914 0.8638 0.8472 0.9135 0.6853 0.7802 0.87 0.84 0.92 0.71 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51799 NA NA NA NA NA 0.79 NA 3.1362 1338 13 23898454 23898454 C T intronic SGCG NA NA NA intronic ENSG00000102683 NA NA NA NA NA 13q12.12 NA NA NA NA rs9510700 0.81 0.81 0.808 0.799121 0.8638 0.881 0.8775 0.5893 0.8763 0.86 0.87 0.89 0.61 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561533 NA NA NA NA NA 0.819 NA 3.1362 1338 7 77227241 77227241 C T intronic PTPN12 NA NA NA intronic ENSG00000127947 NA NA NA NA NA 7q11.23 NA NA NA NA rs6955503 0.24 0.24 0.232 0.250998 0.3072 0.1766 0.2406 0.2504 0.2781 0.3 0.19 0.2 0.24 0.2674 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210661 NA NA 0.289419 0.253064 NA 0.268 NA 3.135981 1338 17 31319033 31319033 G C intronic SPACA3 NA NA NA intronic ENSG00000141316 NA NA NA Score=243;Name=lod=13 NA 17q11.2 NA NA NA NA rs3922357 0.6 0.6 0.56 0.628794 0.5954 0.5179 0.6354 0.7118 0.6605 0.57 0.5 0.65 0.72 0.6343 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472833 NA NA 0.634651 0.703813 NA 0.754 NA 3.135649 1338 12 123339344 123339344 A G intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA NA NA rs2292136 0.83 0.83 0.815 0.780551 0.8648 0.7639 0.9265 0.7118 0.7004 0.9 0.75 0.92 0.75 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557838 NA NA NA NA NA 0.833 NA 3.1352 1339 11 34527152 34527152 A G intronic ELF5 NA NA NA intronic ENSG00000135374 NA NA NA NA NA 11p13 NA NA NA NA rs2231821 0.16 0.16 0.143 0.154353 0.3091 0.0288 0.183 0.0287 0.274 0.32 0.03 0.2 0.03 0.2551 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259322 NA NA 0.300838 0.06426 NA 0.196 NA 3.134962 1339 6 29274356 29274356 T A upstream OR14J1 NA NA NA upstream ENSG00000204695 NA NA NA NA NA 6p22.1 NA NA NA NA rs7774255 0.39 0.39 0.362 0.361222 0.5318 0.3323 0.4135 0.208 0.3855 0.55 0.31 0.43 0.2 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2383 NA NA NA NA NA 0.355 NA 3.1348666 1339 10 61111975 61111975 G C intronic FAM13C NA NA NA intronic ENSG00000148541 NA NA NA NA NA 10q21.1 NA NA NA NA rs284606 0.79 0.79 0.779 0.763179 0.8658 0.6508 0.8127 0.8101 0.6748 0.86 0.66 0.82 0.8 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412381 NA NA NA NA NA 0.812 NA 3.1342 1339 15 22933528 22933528 G A intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA NA NA NA rs2084063 0.25 0.25 0.221 0.21226 0.2783 0.2748 0.3473 0.09 0.1493 0.29 0.26 0.33 0.11 0.3071 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605317 NA NA 0.280581 0.110077 NA 0.087 NA 3.134019 1339 1 177930096 177930096 T C intronic SEC16B NA NA NA intronic ENSG00000120341,ENSG00000254154 NA NA NA NA NA 1q25.2 NA NA NA NA rs867275 0.26 0.26 0.244 0.266174 0.2744 0.3105 0.3444 0.1082 0.3701 0.27 0.31 0.34 0.13 0.3066 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.281954 1.281954 NA 0.285256 0.118932 NA 0.384 NA 3.133744 1339 7 100552867 100552867 T C intergenic ACHE,MUC12 dist=59326;dist=60037 NA NA intronic ENSG00000169894 NA NA NA NA NA 7q22.1 NA NA NA NA rs73714266 NA NA NA 0.153554 0.0258 0.0149 0.0677 0.3699 0.1963 NA NA NA NA 0.5075 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255159 NA NA NA NA NA 0.522 NA 3.1333667 1339 15 42580106 42580106 A C intronic GANC NA NA NA intronic ENSG00000214013 NA NA NA NA NA 15q15.1 NA NA NA NA rs8036596 0.73 0.73 0.721 0.645367 0.8668 0.8423 0.6282 0.3411 0.638 0.88 0.87 0.68 0.39 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907676 NA NA NA NA NA 0.696 NA 3.1332 1339 20 23586184 23586184 T C intronic CST9 NA NA NA intronic ENSG00000173335 NA NA NA NA NA 20p11.21 NA NA NA NA rs2983639 0.74 0.74 0.692 0.715256 0.8668 0.7986 0.7767 0.4395 0.8027 0.88 0.79 0.79 0.41 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291051 NA NA NA NA NA 0.688 NA 3.1332 1339 19 53905469 53905469 A G intronic ZNF765 NA NA NA intronic ENSG00000196417 NA NA NA NA NA 19q13.42 NA NA NA NA rs3975046 0.21 0.21 0.21 0.175919 0.3161 0.0407 0.2075 0.2141 0.0971 0.31 0.06 0.25 0.22 0.2426 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332054 NA NA 0.308346 0.244209 NA 0.283 NA 3.132954 1339 12 9344878 9344878 A G intronic PZP NA NA NA intronic ENSG00000126838 NA NA NA NA NA 12p13.31 NA NA NA NA rs2075394 0.33 0.33 0.341 0.309305 0.3082 0.3819 0.2363 0.3041 0.2945 0.29 0.38 0.28 0.35 0.2788 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8861 NA NA 0.280349 0.302542 NA 0.384 NA 3.132651 1339 19 15132545 15132545 T C intronic CCDC105 NA NA NA intronic ENSG00000105143,ENSG00000160994 NA NA NA NA NA 19p13.12 NA NA NA NA rs736737 0.2 0.2 0.185 0.176518 0.3121 0.0794 0.2118 0.1846 0.1012 0.3 0.08 0.22 0.17 0.2421 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223021 NA NA 0.313372 0.211076 NA 0.246 NA 3.132428 1339 4 54967709 54967709 C A intronic GSX2 NA NA NA intronic ENSG00000145216,ENSG00000180613 NA NA NA NA NA 4q12 NA Name=SUZ12,Max NA NA rs2278142 0.62 0.62 0.575 0.599641 0.6113 0.8423 0.7219 0.2859 0.6748 0.61 0.83 0.69 0.33 0.6389 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053533 NA NA 0.617469 0.339237 NA 0.565 NA 3.132331 1339 19 18895218 18895218 G A intronic COMP NA NA NA intronic ENSG00000105664 NA NA NA NA NA 19p13.11 NA NA NA NA rs12327738 0.22 0.22 0.23 0.198682 0.2813 0.1032 0.2435 0.2224 0.1483 0.29 0.1 0.24 0.24 0.272 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156577 NA NA 0.314492 0.249205 NA 0.145 NA 3.132208 1339 15 87099537 87099537 T C intronic AGBL1 NA NA NA intronic ENSG00000166748 NA NA NA NA NA 15q25.3 NA Name=FOXA1_(SC-101058),JunD,FOSL2,FOXA1_(C-20),KAP1 NA NA rs752270 0.76 0.76 0.786 0.753195 0.6054 0.8948 0.5591 0.9486 0.6329 0.63 0.88 0.59 0.93 0.6587 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793234 NA NA 0.603872 0.899678 NA 0.725 NA 3.132028 1339 1 152079823 152079823 C G UTR3 TCHH NM_007113:c.*38G>C NA NA UTR3 ENSG00000159450 ENST00000368804:c.*38G>C NA NA NA NA 1q21.3 NA NA NA NA rs1131473 0.42 0.42 0.413 0.470248 0.3688 0.496 0.585 0.2806 0.7229 0.38 0.53 0.51 0.28 0.4365 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142852 NA NA 0.396706 0.274728 NA 0.464 NA 3.1313274 1339 20 47739555 47739555 A G intronic STAU1 NA NA NA intronic ENSG00000124214 NA NA NA NA NA 20q13.13 NA NA NA NA rs348260 0.79 0.79 0.82 0.796725 0.8688 0.6071 0.7248 0.9599 0.7485 0.86 0.59 0.77 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231932 NA NA NA NA NA 0.79 NA 3.1312 1339 6 69666520 69666520 T C intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA NA NA 6q12 NA NA NA NA rs7757138 0.23 0.23 0.239 0.222045 0.3052 0.0496 0.1873 0.3283 0.1953 0.31 0.06 0.19 0.35 0.2561 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101706 NA NA 0.307558 0.312074 NA 0.297 NA 3.131142 1339 5 1325803 1325803 A G intronic CLPTM1L NA NA NA intronic ENSG00000049656 NA NA NA NA NA 5p15.33 NA NA NA NA rs465498 0.39 0.39 0.382 0.363019 0.4414 0.1944 0.3055 0.5877 0.1933 0.46 0.16 0.35 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559999 NA NA 0.427718 0.57659 NA 0.391 NA 3.130882 1339 1 35152490 35152490 C T intergenic C1orf94,GJB5 dist=467759;dist=68158 NA NA intergenic ENSG00000207941,ENSG00000163866 dist=17195;dist=25848 NA NA NA NA 1p34.3 NA NA NA NA rs1177663 0.24 0.24 0.241 0.247404 0.2028 0.121 0.3761 0.3502 0.1933 0.19 0.14 0.37 0.36 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110206 NA NA NA NA NA 0.268 NA 3.1305334 1339 14 74040341 74040341 T C intronic ACOT2 NA NA NA intronic ENSG00000119673 NA NA NA NA NA 14q24.3 NA NA NA NA rs34585397 0.34 0.34 0.262 0.288139 0.2883 0.369 0.3256 0.2685 0.2045 0.32 0.41 0.35 0.29 0.2976 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254104 NA NA 0.283837 0.245801 NA 0.217 NA 3.130263 1339 3 72933319 72933319 A G intergenic SHQ1,GXYLT2 dist=35721;dist=4066 NA NA upstream ENSG00000271266 NA NA NA NA NA 3p13 NA NA NA NA rs6768747 0.35 0.35 0.352 0.355631 0.3698 0.0565 0.3084 0.6989 0.2188 0.37 0.04 0.33 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844513 NA NA NA NA NA 0.341 NA 3.1302 1339 4 154556798 154556798 C G intronic KIAA0922 NA NA NA intronic ENSG00000121210 NA NA NA NA NA 4q31.3 NA NA NA NA rs2278576 0.78 0.78 0.783 0.748602 0.8698 0.7738 0.7853 0.5961 0.7781 0.86 0.8 0.78 0.62 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636393 NA NA NA NA NA 0.862 NA 3.1302 1339 5 147516598 147516598 T C UTR3 SPINK5 NM_006846:c.*44T>C,NM_001127698:c.*44T>C NA NA UTR3 ENSG00000133710 ENST00000359874:c.*44T>C,ENST00000256084:c.*44T>C NA NA NA NA 5q32 NA NA NA NA rs4349706 0.49 0.49 0.499 0.491014 0.4076 0.5188 0.3602 0.6097 0.4806 0.44 0.54 0.41 0.57 0.4117 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.176354 NA NA 0.384125 0.570016 NA 0.522 NA 3.1299084 1339 10 27444329 27444329 T C UTR5 MASTL NM_032844:c.-27T>C,NM_001172303:c.-27T>C,NM_001172304:c.-27T>C NA NA UTR5 ENSG00000120539 ENST00000375946:c.-27T>C,ENST00000342386:c.-27T>C,ENST00000375940:c.-27T>C NA NA NA NA 10p12.1 NA Name=JunD,Pol2-4H8,c-Jun,Sin3Ak-20,HA-E2F1,YY1,RFX5_(N-494),NFKB,HEY1,c-Myc,CCNT2,IRF1,TBP,Nrf1,HMGN3,GABP,E2F4,E2F6_(H-50),TAF1,TAF7_(SQ-8),BRCA1_(C-1863),YY1_(C-20),MEF2C_(SC-13268),TCF4,SP1,NRSF,Pol2 NA NA rs7907981 0.8 0.8 0.627 0.815495 0.7744 0.9841 0.6873 0.7746 0.8303 0.75 0.97 0.67 0.76 0.8129 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197613 NA NA 0.616274 0.664193 NA 0.246 NA 3.1297594 1339 18 334758 334758 T C exonic COLEC12 NA synonymous SNV COLEC12:NM_130386:exon6:c.A1800G:p.P600P exonic ENSG00000158270 NA synonymous SNV ENSG00000158270:ENST00000400256:exon6:c.A1800G:p.P600P NA NA 18p11.32 NA NA NA NA rs2305026 0.9 0.9 0.888 0.884984 0.8469 0.9861 0.8746 0.9334 0.7618 0.84 0.99 0.84 0.94 0.8588 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.167655 NA NA 0.831395 0.905129 NA 0.928 NA 3.1295716 1339 11 1213806 1213806 T C intergenic MUC2,MUC5B dist=109389;dist=30489 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=51445;dist=30490 NA NA NA NA 11p15.5 NA NA NA NA rs28653192 0.13 0.13 0.119 0.105631 0.2038 0.003 0.0965 0.1528 0.0532 0.21 0.0035 0.12 0.15 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563441 NA NA NA NA NA 0.072 NA 3.1295334 1339 10 71697516 71697516 G C intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA NA NA 10q22.1 NA NA NA NA rs3750781 0.33 0.33 0.301 0.340655 0.2555 0.4157 0.353 0.3419 0.3405 0.26 0.42 0.31 0.32 0.3196 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053137 NA NA 0.295371 0.30747 NA 0.406 NA 3.129529 1339 20 50225206 50225206 G A intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs3827032 0.21 0.21 0.18 0.213458 0.3022 0.0972 0.3026 0.177 0.228 0.29 0.1 0.29 0.17 0.2684 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929826 NA NA 0.3 0.204721 NA 0.152 NA 3.1294 1339 6 56476262 56476262 T C ncRNA_intronic RNU6-71P NA NA NA intronic ENSG00000151914 NA NA NA NA NA 6p12.1 NA NA NA NA rs7747060 0.38 0.38 0.377 0.378594 0.3976 0.2728 0.3833 0.5008 0.2996 0.38 0.26 0.4 0.52 0.3859 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153161 NA NA 0.420613 0.485042 NA 0.435 NA 3.1292203 1339 14 20916249 20916249 T C intronic OSGEP NA NA NA intronic ENSG00000092094 NA NA NA NA NA 14q11.2 NA NA NA NA rs2275008 0.27 0.27 0.269 0.244808 0.3191 0.0972 0.2291 0.3752 0.1554 0.32 0.1 0.27 0.4 0.2581 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883365 NA NA 0.293953 0.333863 NA 0.304 NA 3.128847 1339 11 26732923 26732923 A G intronic SLC5A12 NA NA NA intronic ENSG00000148942 NA NA NA NA NA 11p14.2 NA NA NA NA rs4322349 0.31 0.31 0.262 0.296326 0.2704 0.4127 0.4553 0.146 0.2935 0.27 0.42 0.41 0.14 0.3153 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876602 NA NA 0.285764 0.177939 ID=COSN163902;OCCURENCE=1(breast) 0.319 NA 3.128536 1339 11 1221985 1221985 C T intergenic MUC2,MUC5B dist=117568;dist=22310 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=59624;dist=22311 NA NA NA NA 11p15.5 NA NA NA NA rs3087562 0.14 0.14 0.139 0.118211 0.2048 0.003 0.098 0.1982 0.0542 0.21 0.0035 0.12 0.19 NA 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480955 NA NA NA NA NA 0.138 NA 3.1285334 1339 14 24656251 24656251 C T intronic IPO4 NA NA NA intronic ENSG00000196497,ENSG00000259522 NA NA NA NA NA 14q12 NA NA NA NA rs2295978 0.32 0.32 0.333 0.341054 0.2694 0.4216 0.2421 0.3124 0.4407 0.26 0.44 0.26 0.31 0.3122 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.060106 NA NA 0.290108 0.302801 NA 0.29 NA 3.128292 1339 20 40049099 40049099 G A intronic CHD6 NA NA NA intronic ENSG00000124177 NA NA NA NA NA 20q12 NA NA NA NA rs6029672 0.34 0.34 0.346 0.328674 0.2565 0.3631 0.2363 0.475 0.2352 0.25 0.37 0.26 0.49 0.3068 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.138133 NA NA 0.308488 0.443259 NA 0.399 NA 3.128212 1339 3 190030680 190030680 A G exonic CLDN1 NA synonymous SNV CLDN1:NM_021101:exon2:c.T369C:p.G123G exonic ENSG00000163347 NA synonymous SNV ENSG00000163347:ENST00000295522:exon2:c.T369C:p.G123G NA NA 3q28 NA NA NA NA rs9869263 0.82 0.82 0.83 0.811102 0.8579 0.8224 0.8026 0.7489 0.8415 0.85 0.83 0.81 0.76 0.8334 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.61062 NA NA 0.847791 0.769632 NA 0.833 NA 3.1275756 1339 19 12491779 12491779 T C intergenic ZNF442,ZNF799 dist=15304;dist=9049 NA NA ncRNA_exonic ENSG00000248406 NA NA NA NA NA 19p13.2 NA NA NA NA rs17706075 0.4 0.4 0.408 0.404752 0.4374 0.0774 0.3674 0.7156 0.3149 0.45 0.07 0.42 0.68 0.4354 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557902 NA NA NA NA NA 0.464 NA 3.1272 1339 17 1707893 1707893 T A intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA NA NA rs8072508 0.32 0.32 0.336 0.332668 0.2783 0.1905 0.2464 0.5862 0.2536 0.25 0.21 0.3 0.56 0.2938 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434769 NA NA 0.300814 0.561734 NA 0.471 NA 3.127086 1339 17 49097501 49097501 C A intronic SPAG9 NA NA NA intronic ENSG00000008294 NA NA NA NA NA 17q21.33 NA NA NA NA rs2286649 0.23 0.23 0.193 0.209864 0.2932 0.2302 0.3314 0.0507 0.2321 0.29 0.23 0.33 0.06 0.286 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221344 NA NA 0.293789 0.086927 ID=COSN165464;OCCURENCE=1(breast),1(urinary_tract) 0.203 NA 3.127011 1339 1 116292448 116292448 A G intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA NA NA NA rs10754355 0.66 0.66 0.617 0.64397 0.8738 0.7421 0.7608 0.2829 0.7117 0.86 0.68 0.78 0.25 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506629 NA NA NA NA NA 0.688 NA 3.1262 1339 15 72901349 72901349 C T intergenic MIR630,GOLGA6B dist=21695;dist=45689 NA NA ncRNA_intronic ENSG00000259783,ENSG00000260144 NA NA NA NA NA 15q24.1 NA NA NA NA rs7495835 0.63 0.63 0.519 0.638379 0.8738 0.7649 0.768 0.1036 0.8967 0.83 0.72 0.76 0.12 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.849951 NA NA NA NA NA 0.486 NA 3.1262 1339 3 49847623 49847623 A G intronic UBA7 NA NA NA intronic ENSG00000182179 NA NA NA NA NA 3p21.31 NA NA NA NA rs1799845 0.21 0.21 0.209 0.223442 0.3101 0.1498 0.2017 0.1369 0.3425 0.3 0.17 0.19 0.13 0.2667 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337302 NA NA 0.29786 0.161217 NA 0.159 NA 3.12534 1339 5 481610 481610 T C intronic SLC9A3 NA NA NA intronic ENSG00000066230 NA NA NA NA NA 5p15.33 NA NA NA NA rs6872510 0.8 0.8 0.779 0.801717 0.8748 0.5694 0.8127 0.9584 0.7464 0.87 0.54 0.83 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708148 NA NA NA NA NA 0.862 NA 3.1252 1339 15 72901353 72901353 A G intergenic MIR630,GOLGA6B dist=21699;dist=45685 NA NA ncRNA_intronic ENSG00000259783,ENSG00000260144 NA NA NA NA NA 15q24.1 NA NA NA NA rs7495802 0.61 0.61 0.529 0.638379 0.8748 0.7639 0.768 0.1036 0.8967 0.8 0.7 0.73 0.11 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743104 NA NA NA NA NA 0.478 NA 3.1252 1340 9 93650015 93650015 T A intronic SYK NA NA NA intronic ENSG00000165025 NA NA NA NA NA 9q22.2 NA NA NA NA rs2126053 0.19 0.19 0.175 0.171126 0.3091 NA 0.219 0.2216 0.1033 0.28 NA 0.25 0.22 0.246 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.485774 1.485774 NA 0.320116 0.226282 NA 0.196 NA 3.124784 1340 10 126100523 126100523 G A intronic OAT NA NA NA intronic ENSG00000065154 NA NA NA NA NA 10q26.13 NA NA NA NA rs10794058 0.24 0.24 0.268 0.254593 0.2922 0.2222 0.196 0.2504 0.2965 0.29 0.22 0.18 0.24 0.2792 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169755 NA NA 0.304186 0.261689 NA 0.457 NA 3.124414 1340 10 98240035 98240035 A T intronic TLL2 NA NA NA intronic ENSG00000095587 NA NA NA NA NA 10q24.1 NA NA NA NA rs2281801 0.89 0.89 0.89 0.846645 0.8757 0.8353 0.8804 0.8714 0.771 0.88 0.88 0.9 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049749 NA NA NA NA NA 0.906 NA 3.1243 1340 15 34546451 34546451 G C intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs2615358 0.81 0.81 0.819 0.777955 0.8757 0.995 0.7536 0.5303 0.8057 0.87 1 0.75 0.55 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018535 NA NA NA NA NA 0.812 NA 3.1243 1340 14 24534781 24534781 G A intronic LRRC16B NA NA NA intronic ENSG00000186648 NA NA NA NA NA 14q11.2 NA NA NA NA rs12590548 0.33 0.33 0.312 0.332268 0.2763 0.4732 0.2637 0.2224 0.4417 0.28 0.51 0.27 0.23 0.3109 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.23355 1.23355 NA 0.288542 0.224467 NA 0.261 NA 3.124258 1340 22 22843118 22843118 C T exonic ZNF280B NA synonymous SNV ZNF280B:NM_080764:exon4:c.G606A:p.S202S exonic ENSG00000198477 NA synonymous SNV ENSG00000198477:ENST00000360412:exon4:c.G606A:p.S202S,ENSG00000198477:ENST00000406426:exon4:c.G606A:p.S202S NA NA 22q11.22 NA NA NA NA rs2236730 0.79 0.79 0.778 0.746605 0.8738 0.7421 0.8516 0.6611 0.6616 0.87 0.74 0.83 0.68 0.8054 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.628125 NA NA 0.86407 0.678393 NA 0.746 NA 3.1233966 1340 2 208546877 208546877 T G intergenic METTL21A,CCNYL1 dist=56904;dist=29387 NA NA downstream ENSG00000213082 NA NA NA NA NA 2q33.3 NA NA NA NA rs2551916 0.44 0.44 0.304 0.455671 0.3767 0.6696 0.428 0.323 0.5153 0.37 0.65 0.43 0.32 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202606 NA NA NA NA NA 0.333 NA 3.1233 1340 2 208546880 208546880 C T intergenic METTL21A,CCNYL1 dist=56907;dist=29384 NA NA downstream ENSG00000213082 NA NA NA NA NA 2q33.3 NA NA NA NA rs2663863 0.42 0.42 0.305 0.438498 0.3767 0.6696 0.4179 0.2632 0.5153 0.37 0.65 0.42 0.26 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342576 NA NA NA NA NA 0.326 NA 3.1233 1340 12 121603856 121603856 C G intronic P2RX7 NA NA NA intronic ENSG00000089041 NA NA NA NA NA 12q24.31 NA NA NA NA rs208307 0.24 0.24 0.243 0.253195 0.2853 0.13 0.1671 0.3389 0.2924 0.29 0.12 0.17 0.36 0.281 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.757388 1.757388 NA 0.310465 0.324557 NA 0.225 NA 3.123235 1340 9 117064306 117064306 T C intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs1546049 0.51 0.51 0.502 0.558906 0.4274 0.6935 0.4755 0.5272 0.6575 0.44 0.63 0.48 0.51 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78182 NA NA 0.449403 0.526734 NA 0.536 NA 3.123197 1340 19 45769575 45769575 G A intronic MARK4 NA NA NA intronic ENSG00000007047 NA NA NA NA NA 19q13.32 NA NA NA NA rs2240672 0.24 0.24 0.219 0.216054 0.2952 0.1012 0.1816 0.295 0.1708 0.31 0.1 0.24 0.28 0.2609 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752221 NA NA 0.320814 0.317522 NA 0.188 NA 3.123086 1340 19 52133060 52133060 G T intronic SIGLEC5 NA NA NA intronic ENSG00000105501,ENSG00000268500 NA NA NA NA NA 19q13.41 NA NA NA NA rs2278833 0.42 0.42 0.35 0.420128 0.2724 0.8452 0.33 0.2912 0.3722 0.22 0.85 0.26 0.33 0.3682 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.089214 NA NA 0.236405 0.31274 NA 0.123 NA 3.122995 1340 1 117715026 117715026 C T intronic VTCN1 NA NA NA intronic ENSG00000134258 NA NA NA NA NA 1p13.1 NA NA Name=2 NA rs6657810 0.67 0.67 0.677 0.653954 0.6203 0.9157 0.6556 0.4932 0.635 0.63 0.9 0.6 0.52 0.6476 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326362 NA NA 0.609493 0.523402 NA 0.58 NA 3.122607 1340 6 35205881 35205881 G A intronic SCUBE3 NA NA NA intronic ENSG00000146197 NA NA NA NA NA 6p21.31 NA NA NA NA rs734538 0.92 0.92 0.915 0.922125 0.8777 0.9891 0.9092 0.8865 0.956 0.88 0.99 0.9 0.9 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402086 NA NA NA NA NA 0.833 NA 3.1223 1340 19 7076255 7076255 T C intronic ZNF557 NA NA NA intronic ENSG00000130544 NA NA NA NA NA 19p13.2 NA NA NA NA rs1808555 0.83 0.83 0.837 0.830471 0.8777 0.7192 0.8573 0.8638 0.8323 0.86 0.73 0.86 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416375 NA NA NA NA NA 0.87 NA 3.1223 1340 7 130292531 130292531 T C intronic COPG2 NA NA NA intergenic ENSG00000239021,ENSG00000158623 dist=4741;dist=3289 NA NA NA NA 7q32.2 NA NA NA NA rs12706946 0.46 0.46 0.397 0.414537 0.5447 0.6052 0.5216 0.0514 0.499 0.54 0.63 0.51 0.08 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33094 NA NA NA NA NA 0.399 NA 3.1219667 1340 22 47064837 47064837 A C intronic GRAMD4 NA NA NA intronic ENSG00000075240 NA NA NA NA NA 22q13.31 NA NA NA NA rs2076711 0.28 0.28 0.254 0.231829 0.3082 0.3988 0.3329 0.0227 0.1922 0.3 0.4 0.36 0.03 0.2736 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183499 NA NA 0.296395 0.06179 NA 0.239 NA 3.121805 1340 12 67696052 67696052 A T intronic CAND1 NA NA NA intronic ENSG00000111530 NA NA NA NA NA 12q14.3 NA NA Name=6 NA rs1143954 0.49 0.49 0.465 0.463858 0.6491 0.3194 0.562 0.3442 0.5143 0.65 0.29 0.59 0.39 0.5754 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039821 NA NA 0.653828 0.399091 NA 0.471 NA 3.121672 1340 10 96018510 96018510 A T intronic PLCE1 NA NA NA intronic ENSG00000138193 NA NA NA NA NA 10q23.33 NA NA NA NA rs4918182 0.27 0.27 0.264 0.277556 0.3002 0.2996 0.2334 0.233 0.3231 0.29 0.3 0.25 0.22 0.2895 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843129 NA NA 0.28866 0.227661 NA 0.225 NA 3.12164 1340 9 85905666 85905666 A G intronic FRMD3 NA NA NA intronic ENSG00000172159 NA NA NA NA NA 9q21.32 NA NA Name=2 NA rs942283 0.57 0.57 0.528 0.574681 0.6233 0.6944 0.5836 0.2806 0.7924 0.64 0.67 0.6 0.32 0.6339 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744052 NA NA 0.62126 0.367915 ID=COSN168580;OCCURENCE=2(large_intestine) 0.384 NA 3.12154 1340 16 20448520 20448520 T C intronic ACSM5 NA NA NA intronic ENSG00000183549 NA NA NA NA NA 16p12.3 NA NA NA NA rs7499667 0.4 0.4 0.411 0.455871 0.2584 0.756 0.2651 0.5068 0.4162 0.24 0.69 0.25 0.41 0.3462 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343223 NA NA 0.273953 0.445302 NA 0.377 NA 3.121447 1340 17 39406447 39406447 A G UTR3 KRTAP9-4 NM_033191:c.*10A>G NA NA UTR3 ENSG00000241595 ENST00000334109:c.*10A>G NA NA NA NA 17q21.2 NA NA NA NA rs3967754 0.64 0.64 0.51 0.623403 0.6799 0.5516 0.7089 0.4977 0.7485 0.7 0.63 0.74 0.51 0.5323 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23395 NA NA NA NA NA 0.268 NA 3.1211334 1340 12 11091432 11091432 C T exonic TAS2R14 NA synonymous SNV TAS2R14:NM_023922:exon1:c.G375A:p.R125R exonic ENSG00000212127 NA synonymous SNV ENSG00000212127:ENST00000537503:exon1:c.G375A:p.R125R NA NA 12p13.2 NA NA NA NA rs3741843 0.81 0.81 0.785 0.775759 0.8638 0.9226 0.8444 0.5015 0.8558 0.88 0.94 0.85 0.52 0.843 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327071 NA NA 0.838995 0.55379 NA 0.797 NA 3.1208716 1340 3 49736172 49736172 C A intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA rs11130216 0.22 0.22 0.237 0.238219 0.3091 0.1518 0.2017 0.2095 0.319 0.3 0.17 0.19 0.17 0.2694 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10926 NA NA 0.300698 0.207217 NA 0.174 NA 3.120802 1340 21 47858272 47858272 T C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2051190 0.28 0.28 0.251 0.292732 0.2913 0.379 0.3458 0.1634 0.3425 0.28 0.34 0.33 0.18 0.2988 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241986 NA NA 0.289186 0.193373 NA 0.239 NA 3.120714 1340 1 3548136 3548136 T C exonic WRAP73 NA synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A exonic ENSG00000116213 NA synonymous SNV ENSG00000116213:ENST00000270708:exon11:c.A1134G:p.A378A,ENSG00000116213:ENST00000378322:exon11:c.A1134G:p.A378A NA NA 1p36.32 NA NA NA NA rs2760321 0.89 0.89 0.875 0.90615 0.836 0.995 0.8458 0.8926 0.9479 0.83 0.99 0.84 0.88 0.8727 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404851 NA NA 0.837326 0.876193 NA 0.826 NA 3.1206406 1340 6 144178419 144178419 T C intronic LTV1 NA NA NA intronic ENSG00000135521 NA NA NA NA NA 6q24.2 NA NA NA NA rs3818089 0.41 0.41 0.424 0.461062 0.2614 0.506 0.3401 0.6672 0.4274 0.27 0.53 0.31 0.58 0.3543 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.214479 NA NA 0.263721 0.583749 NA 0.413 NA 3.120579 1340 5 178268179 178268179 A G intergenic AACSP1,ZNF354B dist=64902;dist=18775 NA NA downstream ENSG00000253725 NA NA NA NA NA 5q35.3 NA NA NA NA rs7448857 0.34 0.34 0.286 0.336462 0.3797 0.4097 0.3026 0.2443 0.365 0.37 0.38 0.35 0.24 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856627 NA NA NA NA NA 0.442 NA 3.1203 1340 6 38994568 38994568 A G intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs2273093 0.81 0.81 0.794 0.793131 0.8797 0.8581 0.8314 0.6331 0.8262 0.89 0.86 0.81 0.62 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692369 NA NA NA NA NA 0.804 NA 3.1203 1340 16 88780023 88780023 G A intronic CTU2 NA NA NA intronic ENSG00000174177 NA NA NA NA NA 16q24.3 NA NA NA NA rs1317756 0.18 0.18 0.188 0.196286 0.3111 0.0883 0.1801 0.0998 0.3313 0.29 0.08 0.21 0.11 0.2617 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35834 NA NA 0.306993 0.130892 NA 0.196 NA 3.120207 1340 6 145148690 145148690 A C intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA NA NA NA rs2066054 0.74 0.74 0.754 0.766573 0.4304 0.9563 0.7118 0.9826 0.6636 0.44 0.97 0.68 0.97 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.163543 NA NA 0.449403 0.902457 NA 0.63 NA 3.120197 1340 4 17625209 17625209 G C intronic MED28 NA NA NA intronic ENSG00000118579 NA NA NA NA NA 4p15.32 NA NA Name=43 NA rs11733730 0.67 0.67 0.672 0.637181 0.6262 0.8552 0.6945 0.4977 0.5716 0.63 0.87 0.67 0.48 0.6493 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182293 NA NA 0.605 0.54562 NA 0.703 NA 3.1195 1340 12 131620578 131620578 C T intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs884522 0.21 0.21 0.205 0.20647 0.3032 0.2083 0.1916 0.0129 0.3773 0.32 0.22 0.2 0.02 0.2751 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.134546 NA NA 0.302209 0.067635 NA 0.138 NA 3.119491 1340 22 32626908 32626908 G A intronic SLC5A4 NA NA NA ncRNA_intronic ENSG00000242082 NA NA NA NA NA 22q12.3 NA NA NA NA rs2068209 0.34 0.34 0.393 0.348043 0.4175 0.0665 0.2968 0.5726 0.2996 0.41 0.05 0.3 0.59 0.3809 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137785 NA NA 0.415465 0.539719 NA 0.406 NA 3.1194683 1340 15 34546434 34546434 T C intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs2705344 0.83 0.83 0.838 0.799121 0.8807 0.994 0.7594 0.5877 0.8282 0.87 1 0.75 0.63 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224667 NA NA NA NA NA 0.855 NA 3.1193 1340 12 11338983 11338983 T C exonic TAS2R42 NA synonymous SNV TAS2R42:NM_181429:exon1:c.A561G:p.L187L exonic ENSG00000186136 NA synonymous SNV ENSG00000186136:ENST00000334266:exon1:c.A561G:p.L187L NA NA 12p13.2 NA NA NA NA rs1650019 0.79 0.79 0.765 0.760783 0.8688 0.9514 0.8473 0.407 0.8701 0.88 0.97 0.85 0.42 0.8395 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448456 NA NA 0.839119 0.469891 NA 0.754 NA 3.1192476 1340 1 10355834 10355834 C T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs3753037 0.29 0.29 0.265 0.263978 0.3052 0.2887 0.3256 0.1823 0.2628 0.31 0.31 0.36 0.18 0.2787 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733644 NA NA 0.296977 0.18611 ID=COSM146391,COSM146392;OCCURENCE=1(stomach) 0.239 NA 3.119123 1340 19 33586739 33586739 G C intronic GPATCH1 NA NA NA intronic ENSG00000076650 NA NA NA NA NA 19q13.11 NA NA NA NA rs13345542 0.44 0.44 0.444 0.533347 0.2416 0.5089 0.2867 0.8003 0.6728 0.25 0.5 0.3 0.78 0.3707 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925354 NA NA 0.268953 0.727644 NA 0.449 NA 3.118747 1340 10 124183732 124183732 T C exonic PLEKHA1 NA synonymous SNV PLEKHA1:NM_001001974:exon9:c.T699C:p.R233R,PLEKHA1:NM_021622:exon9:c.T699C:p.R233R,PLEKHA1:NM_001195608:exon10:c.T699C:p.R233R exonic ENSG00000107679 NA synonymous SNV ENSG00000107679:ENST00000433307:exon8:c.T699C:p.R233R,ENSG00000107679:ENST00000368988:exon9:c.T699C:p.R233R,ENSG00000107679:ENST00000368989:exon9:c.T699C:p.R233R,ENSG00000107679:ENST00000368990:exon9:c.T699C:p.R233R,ENSG00000107679:ENST00000392799:exon10:c.T699C:p.R233R,ENSG00000107679:ENST00000538022:exon10:c.T699C:p.R233R NA NA 10q26.13 NA NA NA NA rs4405249 0.92 0.92 0.937 0.940296 0.8181 1 0.9179 0.9834 0.9622 0.84 1 0.92 0.97 0.8884 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603788 NA NA 0.841512 0.960281 NA 0.942 NA 3.1186546 1340 16 84351828 84351828 G A intronic WFDC1 NA NA NA intronic ENSG00000103175 NA NA NA NA NA 16q24.1 NA NA NA NA rs187372 0.3 0.3 0.266 0.303514 0.3032 0.5863 0.2406 0.0514 0.3978 0.29 0.54 0.27 0.05 0.2942 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838266 NA NA 0.283953 0.100682 NA 0.362 NA 3.118647 1340 8 124089526 124089526 C A intronic WDR67 NA NA NA intronic ENSG00000156787 NA NA NA NA NA 8q24.13 NA NA NA NA rs13254600 0.24 0.24 0.218 0.239018 0.2982 0.1071 0.3069 0.2753 0.2168 0.3 0.11 0.33 0.26 0.2778 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179859 NA NA 0.305581 0.258057 NA 0.203 NA 3.118419 1340 17 18916893 18916893 T C intronic SLC5A10 NA NA NA intronic ENSG00000154025 NA NA NA NA NA 17p11.2 NA NA NA NA rs11652575 NA NA 0.528 0.510184 0.8817 0.3006 0.562 0.4592 0.3763 NA NA NA NA NA 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755473 NA NA NA NA NA 0.312 NA 3.1183 1340 19 8167830 8167830 A G intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs12986396 0.68 0.68 0.662 0.660144 0.8817 0.7272 0.683 0.295 0.8405 0.88 0.72 0.72 0.29 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773837 NA NA NA NA NA 0.71 NA 3.1183 1340 2 171257945 171257945 A T intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA NA NA NA rs7568041 0.24 0.24 0.241 0.22484 0.3062 0.2927 0.1758 0.1225 0.2444 0.3 0.27 0.2 0.14 0.2733 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.578534 NA NA 0.302401 0.141299 NA 0.225 NA 3.118099 1340 10 127484617 127484617 C G intronic UROS NA NA NA intronic ENSG00000188690 NA NA NA NA NA 10q26.13 NA NA NA NA rs2281955 0.39 0.39 0.395 0.400559 0.4433 0.3065 0.3372 0.4387 0.4468 0.44 0.31 0.36 0.41 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58281 NA NA 0.438718 0.424133 NA 0.384 NA 3.117982 1340 19 8996019 8996019 A T intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs73493652 0.36 0.36 0.367 0.432508 0.2714 0.4137 0.2839 0.5915 0.5082 0.27 0.36 0.27 0.59 0.3386 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643356 NA NA 0.272542 0.521163 NA 0.442 NA 3.117458 1340 14 94914455 94914455 A T intronic SERPINA11 NA NA NA ncRNA_intronic ENSG00000256357 NA NA NA NA NA 14q32.13 NA NA Name=9 NA rs10129672 0.74 0.74 0.716 0.741414 0.7694 0.63 0.7032 0.8003 0.7751 0.79 0.64 0.7 0.8 0.7264 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145643 NA NA 0.720465 0.76532 NA 0.703 NA 3.1170683 1340 13 33635463 33635463 T C exonic KL NA synonymous SNV KL:NM_004795:exon4:c.T2247C:p.A749A exonic ENSG00000133116 NA synonymous SNV ENSG00000133116:ENST00000380099:exon4:c.T2247C:p.A749A NA NA 13q13.1 NA NA NA NA rs648202 0.73 0.73 0.679 0.710863 0.8787 0.6071 0.8285 0.5386 0.7945 0.89 0.61 0.82 0.56 0.8036 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812176 NA NA 0.867442 0.576714 NA 0.754 NA 3.1169246 1340 21 47685787 47685787 T C intronic MCM3AP NA NA NA intronic ENSG00000160294 NA NA NA NA NA 21q22.3 NA NA NA NA rs9637172 0.37 0.37 0.339 0.366813 0.4324 0.2798 0.5086 0.2905 0.3916 0.43 0.26 0.5 0.31 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493123 NA NA 0.450779 0.332192 NA 0.275 NA 3.116821 1340 20 30363645 30363645 T C intronic TPX2 NA NA NA intronic ENSG00000088325 NA NA NA NA NA 20q11.21 NA NA NA NA rs6060938 0.32 0.32 0.327 0.298722 0.3161 0.001 0.2435 0.7042 0.0787 0.33 0.0017 0.29 0.72 0.277 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825606 NA NA 0.290465 0.607354 NA 0.312 NA 3.116435 1340 11 23426632 23426632 T C intergenic CCDC179,LUZP2 dist=544660;dist=1091884 NA NA ncRNA_exonic ENSG00000255293 NA NA NA NA NA 11p14.3 NA NA NA NA rs7129100 0.9 0.9 0.893 0.892372 0.8837 0.998 0.7954 0.8495 0.9192 0.89 1 0.82 0.86 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463763 NA NA NA NA NA 0.928 NA 3.1163 1340 15 42159623 42159623 T C intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA NA NA NA rs8032462 0.8 0.8 0.779 0.770767 0.8837 0.9653 0.8674 0.4463 0.8241 0.89 0.96 0.87 0.43 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45969 NA NA NA NA NA 0.732 NA 3.1163 1340 11 1156709 1156709 G A intergenic MUC2,MUC5B dist=52292;dist=87586 NA NA intronic ENSG00000215182 NA NA NA NA NA 11p15.5 NA NA NA NA rs34664315 0.12 0.12 0.116 0.103634 0.2008 0.003 0.0965 0.1437 0.0583 0.2 0.0035 0.12 0.14 0.1438 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852459 NA NA 0.206281 0.153714 NA 0.109 NA 3.1157857 1340 10 73578503 73578503 G A intronic PSAP NA NA NA intronic ENSG00000197746 NA NA NA NA NA 10q22.1 NA NA NA NA rs885828 0.42 0.42 0.399 0.40615 0.2793 0.5982 0.3689 0.4592 0.2935 0.28 0.61 0.33 0.48 0.3338 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124166 NA NA 0.271395 0.439174 NA 0.435 NA 3.115505 1340 2 86292656 86292656 C T intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA NA NA 2p11.2 NA NA NA NA rs311563 0.78 0.78 0.784 0.78734 0.8847 0.6567 0.8674 0.7148 0.863 0.88 0.67 0.88 0.7 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284051 1.284051 NA NA NA NA 0.804 NA 3.1153 1340 10 125780958 125780958 C T intronic CHST15 NA NA NA intronic ENSG00000182022 NA NA NA NA NA 10q26.13 NA NA NA NA rs9422312 0.28 0.28 0.257 0.280751 0.2823 0.4127 0.353 0.1218 0.3067 0.28 0.4 0.36 0.1 0.3022 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.44819 2.44819 NA 0.300233 0.147072 ID=COSN163803;OCCURENCE=1(breast) 0.246 NA 3.115267 1341 10 11330548 11330548 G A intronic CELF2 NA NA NA intronic ENSG00000048740 NA NA NA NA NA 10p14 NA NA NA NA rs2277215 0.41 0.41 0.365 0.416334 0.2773 0.623 0.4452 0.3782 0.3773 0.27 0.62 0.44 0.36 0.3519 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091053 NA NA 0.256141 0.354878 NA 0.239 NA 3.114659 1341 19 33597816 33597816 T C intronic GPATCH1 NA NA NA intronic ENSG00000076650 NA NA NA NA NA 19q13.11 NA NA NA NA rs10408093 0.44 0.44 0.465 0.533546 0.2416 0.5079 0.2867 0.8018 0.6728 0.25 0.5 0.3 0.78 0.3751 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409552 NA NA 0.268953 0.727417 NA 0.449 NA 3.114347 1341 7 55540791 55540791 G C intronic VOPP1 NA NA NA intronic ENSG00000154978 NA NA NA NA NA 7p11.2 NA NA NA NA rs712819 0.86 0.86 0.874 0.84984 0.8857 0.7292 0.9035 0.9281 0.7935 0.89 0.74 0.9 0.92 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201345 NA NA NA NA NA 0.891 NA 3.1143 1341 6 125598199 125598199 T C intronic HDDC2 NA NA NA intronic ENSG00000111906 NA NA NA NA NA 6q22.31 NA NA NA NA rs2243392 0.48 0.48 0.526 0.503395 0.2853 0.4018 0.5173 0.9327 0.2423 0.25 0.44 0.47 0.89 0.3395 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077914 NA NA 0.260933 0.798881 NA 0.261 NA 3.114267 1341 16 74999617 74999617 A C intronic WDR59 NA NA NA intronic ENSG00000103091 NA NA NA NA NA 16q23.1 NA NA NA NA rs4888324 0.64 0.64 0.628 0.644569 0.4414 0.756 0.5591 0.7716 0.6278 0.47 0.79 0.55 0.8 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215439 NA NA 0.444375 0.705202 NA 0.623 NA 3.114225 1341 16 31392189 31392189 G C intronic ITGAX NA NA NA intronic ENSG00000140678 NA NA NA NA NA 16p11.2 NA NA NA NA rs11150620 0.33 0.33 0.291 0.316094 0.2913 0.5784 0.3487 0.0507 0.407 0.28 0.6 0.33 0.07 0.3104 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419618 NA NA 0.284302 0.089213 NA 0.304 NA 3.113998 1341 22 36710183 36710183 T C intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA NA NA rs3752462 0.45 0.45 0.401 0.39357 0.6541 0.2073 0.6643 0.2141 0.3681 0.65 0.23 0.65 0.26 0.5614 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.814061 NA NA 0.670581 0.269405 NA 0.464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037547.1;CLNDSDB=.;CLNDSDBID=. 3.113919 1341 7 47915651 47915651 G C intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs4724654 0.31 0.31 0.327 0.345447 0.2932 0.0962 0.3516 0.593 0.317 0.29 0.08 0.35 0.58 0.3073 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889879 NA NA 0.285698 0.55084 NA 0.312 NA 3.113802 1341 16 20448527 20448527 T C intronic ACSM5 NA NA NA intronic ENSG00000183549 NA NA NA NA NA 16p12.3 NA NA NA NA rs7499668 0.41 0.41 0.447 0.459665 0.2604 0.756 0.2622 0.5212 0.4162 0.24 0.71 0.24 0.45 0.3484 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826626 NA NA 0.277442 0.452792 NA 0.435 NA 3.113758 1341 7 47920450 47920450 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs17131899 0.31 0.31 0.3 0.34385 0.2932 0.0952 0.3501 0.59 0.3149 0.29 0.08 0.35 0.58 0.3095 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385382 NA NA 0.283837 0.543123 NA 0.188 NA 3.113463 1341 17 40818584 40818584 C T intronic TUBG2 NA NA NA intronic ENSG00000037042 NA NA NA NA NA 17q21.2 NA NA NA NA rs2292749 0.3 0.3 0.296 0.330471 0.2913 0.4474 0.2017 0.2035 0.5133 0.31 0.43 0.19 0.23 0.3034 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340105 NA NA 0.29186 0.207671 NA 0.391 NA 3.11344 1341 16 58537897 58537897 G A intronic NDRG4 NA NA NA intronic ENSG00000103034 NA NA NA NA NA 16q21 NA NA NA NA rs2427787 0.3 0.3 0.289 0.285942 0.492 0.2411 0.2349 0.112 0.3916 0.49 0.23 0.24 0.12 0.3946 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587739 NA NA NA NA NA 0.464 NA 3.1134 1341 8 144378868 144378868 A G exonic ZNF696 NA synonymous SNV ZNF696:NM_030895:exon3:c.A1023G:p.R341R exonic ENSG00000185730 NA synonymous SNV ENSG00000185730:ENST00000330143:exon3:c.A1023G:p.R341R NA NA 8q24.3 NA NA NA NA rs7386259 0.89 0.89 0.898 0.899561 0.8608 0.8403 0.9179 0.9425 0.9294 0.85 0.87 0.91 0.95 0.8502 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46254 NA NA 0.842296 0.932065 NA 0.754 NA 3.1133706 1341 1 10431158 10431158 T C intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs17411502 0.28 0.28 0.247 0.249002 0.3091 0.2817 0.3213 0.1233 0.272 0.32 0.3 0.35 0.14 0.2772 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.881645 2.881645 NA 0.300349 0.154789 ID=COSN162931;OCCURENCE=1(breast) 0.203 NA 3.113351 1341 17 12920260 12920260 A G intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs58809197 0.2 0.2 0.19 0.208466 0.3161 0.0347 0.2464 0.2073 0.2515 0.33 0.03 0.24 0.19 0.2716 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.930528 2.930528 NA 0.298953 0.220381 NA 0.203 NA 3.113347 1341 5 154311576 154311576 T C intronic GEMIN5 NA NA NA intronic ENSG00000082516 NA NA NA NA NA 5q33.2 NA NA NA NA rs2544866 0.83 0.83 0.824 0.814696 0.8867 0.8919 0.7752 0.6641 0.8926 0.89 0.9 0.82 0.66 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.054266 NA NA NA NA NA 0.841 NA 3.1133 1341 8 124693641 124693641 G A intronic ANXA13 NA NA NA intronic ENSG00000104537 NA NA NA NA NA 8q24.13 NA NA NA NA rs4314634 0.24 0.24 0.212 0.246006 0.2773 0.0833 0.3444 0.2806 0.2648 0.28 0.1 0.36 0.28 0.297 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514434 NA NA 0.312442 0.28552 NA 0.355 NA 3.113258 1341 19 12491949 12491949 T C intergenic ZNF442,ZNF799 dist=15474;dist=8879 NA NA ncRNA_exonic ENSG00000248406 NA NA NA NA NA 19p13.2 NA NA NA NA rs11668955 0.31 0.31 0.298 0.309305 0.4364 0.0734 0.3429 0.3729 0.3119 0.45 0.07 0.39 0.34 0.451 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053311 NA NA NA NA NA 0.326 NA 3.1126 1341 17 6545702 6545702 C T intronic TXNDC17 NA NA NA intronic ENSG00000129235 NA NA NA NA NA 17p13.1 NA NA NA NA rs9909640 0.36 0.36 0.336 0.334665 0.4553 0.2897 0.3285 0.2579 0.365 0.47 0.32 0.34 0.24 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427263 NA NA 0.432118 0.281792 NA 0.203 NA 3.112582 1341 4 89575324 89575324 T A intronic HERC3 NA NA NA intronic ENSG00000138641 NA NA NA NA NA 4q22.1 NA NA NA NA rs2860427 0.49 0.49 0.524 0.547125 0.2575 0.5218 0.2853 0.8903 0.593 0.28 0.55 0.28 0.89 0.3702 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133804 NA NA 0.259767 0.778484 NA 0.406 NA 3.112533 1341 X 16876980 16876980 G A intronic RBBP7 NA NA NA intronic ENSG00000102054 NA NA NA NA NA Xp22.2 NA NA NA NA rs4828536 0.6 0.6 0.56916 NA NA NA NA NA NA 0.41 0.89 0.63 0.51 0.4783 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.396837 1.396837 NA 0.409185 0.494133 NA 0.304 NA 3.112515 1341 6 47678678 47678678 C G intronic GPR115 NA NA NA intronic ENSG00000153294 NA NA NA NA NA 6p12.3 NA NA NA NA rs944056 0.83 0.83 0.82 0.827676 0.8877 0.8671 0.9006 0.6868 0.864 0.87 0.87 0.9 0.69 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245211 NA NA NA NA NA 0.797 NA 3.1123 1341 6 168475822 168475822 A G intronic FRMD1 NA NA NA intronic ENSG00000153303 NA NA NA NA NA 6q27 NA NA NA NA rs3816859 0.86 0.86 0.861 0.861222 0.8877 0.8383 0.8127 0.8396 0.9213 0.89 0.87 0.79 0.87 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709307 NA NA NA NA NA 0.906 NA 3.1123 1341 19 45506772 45506772 T A intronic RELB NA NA NA intronic ENSG00000104856 NA NA NA NA NA 19q13.32 NA NA NA NA rs7251460 0.91 0.91 0.925 0.882388 0.8877 0.9435 0.8271 0.966 0.7403 0.88 0.93 0.85 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641047 NA NA NA NA NA 0.928 NA 3.1123 1341 12 6091164 6091164 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs216868 0.31 0.31 0.3 0.303315 0.2535 0.4831 0.3559 0.1029 0.4029 0.26 0.51 0.35 0.12 0.3354 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.444885 1.444885 NA 0.299767 0.152065 NA 0.196 NA 3.111333 1341 7 142143562 142143562 C A intergenic LOC730441,MTRNR2L6 dist=171494;dist=230569 NA NA downstream ENSG00000253188 NA NA NA NA NA 7q34 NA NA NA NA rs361457 0.26 0.26 0.217 0.242013 0.3887 0.1548 0.3718 0.1392 0.228 0.37 0.15 0.36 0.14 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799392 NA NA NA NA NA 0.239 NA 3.1113 1341 12 124838591 124838591 C G intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs4765555 0.35 0.35 0.315 0.356629 0.2624 0.4494 0.4582 0.3548 0.2883 0.28 0.44 0.41 0.34 0.3516 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131479 NA NA 0.274887 0.341917 NA 0.275 NA 3.111113 1341 20 45923539 45923539 C T intronic ZMYND8 NA NA NA intronic ENSG00000101040 NA NA NA NA NA 20q13.12 NA NA NA NA rs6066270 0.24 0.24 0.217 0.191094 0.3091 0.2312 0.2233 0.1188 0.1033 0.32 0.23 0.26 0.12 0.2661 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.204223 NA NA 0.313837 0.148207 NA 0.319 NA 3.110963 1341 7 47915677 47915677 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs4724655 0.31 0.31 0.317 0.345447 0.2932 0.0962 0.3516 0.593 0.317 0.29 0.08 0.35 0.58 0.31 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8539 NA NA 0.28593 0.550386 NA 0.297 NA 3.11087 1341 22 17662917 17662917 G C intronic CECR1 NA NA NA intronic ENSG00000093072 NA NA NA NA NA 22q11.1 NA NA NA NA rs3764846 0.22 0.22 0.225 0.186302 0.3151 0.0456 0.1902 0.233 0.1329 0.32 0.04 0.24 0.24 0.251 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031633 NA NA 0.32314 0.231956 NA 0.167 NA 3.11076 1341 13 27256728 27256728 C G intronic WASF3 NA NA NA intronic ENSG00000132970 NA NA NA NA NA 13q12.13 NA NA NA NA rs9507763 0.24 0.24 0.231 0.273363 0.3032 0.1071 0.2478 0.2874 0.4131 0.31 0.1 0.25 0.3 0.2856 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124196 NA NA 0.300465 0.301861 NA 0.268 NA 3.110735 1341 19 36605647 36605647 T C intronic POLR2I NA NA NA intronic ENSG00000105258 NA NA NA NA NA 19q13.12 NA Name=HEY1,HA-E2F1,Pol2-4H8,Pol2,Pol2(phosphoS2),YY1_(C-20),TAF1 NA NA rs2227260 0.73 0.73 0.716 0.721246 0.6272 0.7907 0.7363 0.7912 0.6411 0.63 0.8 0.69 0.8 0.654 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.516262 1.516262 NA 0.608372 0.764185 NA 0.58 NA 3.110428 1341 4 36130127 36130127 T C intronic ARAP2 NA NA NA intronic ENSG00000047365 NA NA NA NA NA 4p14 NA NA NA NA rs5009416 0.34 0.34 0.059 0.368411 0.4254 0.4841 0.3919 0.1513 0.4673 0.4 0.47 0.36 0.07 0.2439 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002722 NA NA 0.220349 0.054244 NA 0.13 NA 3.110351 1341 16 33605195 33605195 T C intergenic RNU6-76P,LINC00273 dist=41952;dist=355857 NA NA upstream ENSG00000270467 NA NA NA NA NA 16p11.2 NA NA NA NA rs1985776 NA NA 0.421 NA NA NA NA NA NA NA NA NA NA 0.3902 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200672 NA NA NA NA NA 0.442 NA 3.1098 1341 2 191364708 191364708 G A intronic MFSD6 NA NA NA intronic ENSG00000151690 NA NA NA NA NA 2q32.2 NA NA NA NA rs72907168 0.17 0.17 0.156 0.193291 0.3111 0.0942 0.1643 0.0461 0.3937 0.31 0.07 0.22 0.04 0.2611 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533617 NA NA 0.318372 0.087608 NA 0.109 NA 3.109428 1341 11 5603136 5603136 C A downstream OR52B6 NA NA NA ncRNA_intronic ENSG00000239920 NA NA NA NA NA 11p15.4 NA NA NA NA rs10838376 0.53 0.53 0.508 0.555112 0.33 0.753 0.5605 0.587 0.5358 0.34 0.75 0.52 0.57 0.4207 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961266 NA NA 0.306546 0.508588 NA 0.377 NA 3.1094206 1341 9 27609207 27609207 G A intergenic C9orf72,LINGO2 dist=35343;dist=338877 NA NA ncRNA_exonic ENSG00000215441 NA NA NA NA NA 9p21.2 NA NA NA NA rs813504 0.9 0.9 0.894 0.898163 0.8907 0.9276 0.8314 0.9153 0.8998 0.89 0.92 0.84 0.91 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292854 NA NA NA NA NA 0.819 NA 3.1093 1341 16 33572148 33572148 G A intergenic RNU6-76P,LINC00273 dist=8905;dist=388904 NA NA downstream ENSG00000261580 NA NA NA NA NA 16p11.2 NA NA NA NA rs28712624 NA NA 0.377 0.422923 0.3907 0.3909 0.3112 0.4955 0.4703 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.920304 NA NA NA NA NA NA NA 3.1093 1341 16 33572149 33572149 C A intergenic RNU6-76P,LINC00273 dist=8906;dist=388903 NA NA downstream ENSG00000261580 NA NA NA NA NA 16p11.2 NA NA NA NA rs28421760 NA NA 0.363 0.422923 0.3907 0.3909 0.3112 0.4955 0.4703 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771601 NA NA NA NA NA NA NA 3.1093 1341 19 8168326 8168326 G A intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs3865463 0.68 0.68 0.665 0.666933 0.8907 0.7272 0.6888 0.3056 0.8476 0.89 0.72 0.73 0.3 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202696 NA NA NA NA NA 0.717 NA 3.1093 1341 7 47920298 47920298 G C intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs17131896 0.31 0.31 0.319 0.34345 0.2932 0.0952 0.3501 0.59 0.3129 0.29 0.08 0.35 0.58 0.3113 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054219 NA NA 0.286395 0.548343 NA 0.304 NA 3.109105 1341 1 76205643 76205643 C A intronic ACADM NA NA NA intronic ENSG00000117054 NA NA NA NA NA 1p31.1 NA NA NA NA rs12127402 0.2 0.2 0.176 0.190096 0.3052 0.0228 0.3026 0.1619 0.2025 0.28 0.02 0.32 0.2 0.2861 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254365 NA NA 0.299721 0.179125 NA 0.217 NA 3.108979 1341 1 22310139 22310139 T G intronic CELA3B NA NA NA intronic ENSG00000219073 NA NA NA NA NA 1p36.12 NA NA NA NA rs10733031 0.84 0.84 0.767 NA NA NA NA NA NA 0.97 0.71 0.94 0.72 0.8912 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287951 NA NA NA NA NA 0.804 NA 3.1088 1341 17 39766504 39766504 A G intronic KRT16 NA NA NA intronic ENSG00000186832 NA NA NA NA NA 17q21.2 NA Name=CTCF Name=10 NA rs7406899 0.98 0.98 0.985 0.98742 0.9692 1 0.9769 0.9977 0.9867 0.96 1 0.98 1 0.9679 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88741 NA NA 0.954175 0.990921 NA 0.935 NA 3.108725 1341 14 105057469 105057469 G A intergenic C14orf180,TMEM179 dist=1286;dist=2951 NA NA UTR3 ENSG00000258986 ENST00000556320:c.*312C>T NA NA NA NA 14q32.33 NA NA NA NA rs12101279 0.6 0.6 0.604 0.59984 0.7247 0.4018 0.4885 0.6604 0.6728 0.72 0.42 0.56 0.64 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463169 NA NA NA NA NA 0.674 NA 3.1086334 1341 3 184010048 184010048 G C UTR3 ECE2 NM_014693:c.*22G>C,NM_001100121:c.*22G>C,NM_001037324:c.*22G>C,NM_001100120:c.*22G>C NA NA UTR3 ENSG00000145194 ENST00000402825:c.*22G>C,ENST00000359140:c.*22G>C,ENST00000404464:c.*22G>C,ENST00000357474:c.*22G>C NA NA NA Name=Menarche (age at onset) 3q27.1 NA NA NA NA rs3914188 0.7 0.7 0.716 0.702875 0.7465 0.6349 0.7666 0.7141 0.6677 0.74 0.62 0.75 0.69 0.7302 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696885 NA NA 0.748023 0.73695 NA 0.768 NA 3.1086104 1341 20 59829847 59829847 C T intronic CDH4 NA NA NA intronic ENSG00000179242 NA NA NA NA NA 20q13.33 NA NA Name=41 NA rs3752252 0.56 0.56 0.524 0.544129 0.6431 0.5437 0.6686 0.354 0.6115 0.64 0.52 0.67 0.38 0.6062 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123226 NA NA 0.642326 0.401725 NA 0.543 NA 3.108374 1341 7 2623801 2623801 G T intronic IQCE NA NA NA intronic ENSG00000106012 NA NA NA NA NA 7p22.3 NA NA NA NA rs73033665 0.31 0.31 0.29 0.287141 0.4404 0.1597 0.3112 0.2284 0.3231 0.46 0.15 0.31 0.25 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022334 NA NA 0.451288 0.253613 NA 0.355 NA 3.108312 1341 3 179533496 179533496 T C intronic PEX5L NA NA NA intronic ENSG00000114757 NA NA NA NA NA 3q26.33 NA NA NA NA rs2111397 0.93 0.93 0.928 0.94389 0.8917 0.9603 0.8862 0.9879 0.9622 0.89 0.95 0.9 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244934 NA NA NA NA NA 0.949 NA 3.1083 1341 11 113200709 113200709 G A intronic TTC12 NA NA NA intronic ENSG00000149292 NA NA NA NA NA 11q23.2 NA NA Name=5 NA rs2303380 0.62 0.62 0.622 0.608826 0.6441 0.5347 0.5749 0.6815 0.5746 0.64 0.56 0.59 0.7 0.6131 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663017 NA NA 0.63466 0.68219 NA 0.551 NA 3.10814 1341 19 12491955 12491955 A C intergenic ZNF442,ZNF799 dist=15480;dist=8873 NA NA ncRNA_exonic ENSG00000248406 NA NA NA NA NA 19p13.2 NA NA NA NA rs11668074 0.32 0.32 0.296 0.309305 0.4354 0.0734 0.3444 0.3729 0.3119 0.45 0.07 0.4 0.34 0.4565 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053727 NA NA NA NA NA 0.326 NA 3.1081 1341 11 1161935 1161935 C A intergenic MUC2,MUC5B dist=57518;dist=82360 NA NA intronic ENSG00000215182 NA NA NA NA NA 11p15.5 NA NA NA NA rs34974357 0.13 0.13 0.113 0.107029 0.2048 0.003 0.0965 0.1543 0.0573 0.2 0.0035 0.12 0.15 0.1468 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606296 NA NA 0.207035 0.16476 NA 0.123 NA 3.1080317 1341 1 230883466 230883466 C T intronic CAPN9 NA NA NA ncRNA_intronic ENSG00000244137 NA NA NA NA NA 1q42.2 NA NA NA NA rs12143120 0.4 0.4 0.385 0.363219 0.4314 0.3313 0.4294 0.3646 0.2771 0.45 0.33 0.45 0.38 0.3876 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475323 NA NA 0.406395 0.366773 NA 0.348 NA 3.1079383 1341 11 6867894 6867894 T C downstream OR10A5 NA NA NA UTR3 ENSG00000166363 ENST00000379831:c.*27T>C,ENST00000299454:c.*27T>C NA NA NA NA 11p15.4 NA NA NA NA rs7105094 0.32 0.32 0.311 0.336062 0.3052 0.4593 0.2867 0.2602 0.3783 0.31 0.41 0.27 0.27 0.31 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736654 NA NA 0.277052 0.27864 NA 0.326 NA 3.107748 1341 17 12905743 12905743 G A intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs55825263 0.2 0.2 0.203 0.20627 0.3151 0.0347 0.2406 0.2042 0.2495 0.33 0.03 0.23 0.18 0.2808 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637552 NA NA 0.296977 0.216523 NA 0.188 NA 3.107123 1341 1 150259400 150259400 A C UTR3 C1orf51 NM_144697:c.*34A>C NA NA UTR3 ENSG00000159208 ENST00000369094:c.*34A>C,ENST00000369095:c.*34A>C,ENST00000290363:c.*34A>C NA NA NA NA 1q21.2 NA NA NA NA rs9126 0.48 0.48 0.447 0.513978 0.4056 0.7163 0.513 0.3601 0.6258 0.39 0.69 0.46 0.38 0.44 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493091 NA NA 0.380698 0.399001 NA 0.399 NA 3.1070354 1341 2 170558231 170558231 T C intronic PHOSPHO2-KLHL23 NA NA NA intronic ENSG00000213160 NA NA NA NA NA 2q31.1 NA NA NA NA rs11685651 0.22 0.22 0.238 0.233227 0.2883 0.1577 0.1585 0.2693 0.2587 0.28 0.15 0.17 0.27 0.3036 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551571 NA NA 0.30152 0.262091 NA 0.341 NA 3.10658 1341 17 2203348 2203348 T C exonic SMG6 NA synonymous SNV SMG6:NM_017575:exon2:c.A699G:p.P233P exonic ENSG00000070366 NA synonymous SNV ENSG00000070366:ENST00000263073:exon2:c.A699G:p.P233P,ENSG00000070366:ENST00000544865:exon2:c.A606G:p.P202P NA NA 17p13.3 NA NA NA NA rs216194 0.92 0.92 0.903 0.94369 0.825 1 0.8963 0.9962 0.9703 0.83 1 0.89 1 0.8904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.711792 NA NA 0.844767 0.967998 NA 0.884 NA 3.1064996 1341 22 17662679 17662679 C T intronic CECR1 NA NA NA intronic ENSG00000093072 NA NA NA NA NA 22q11.1 NA NA NA NA rs41282461 0.22 0.22 0.231 0.1873 0.3191 0.0466 0.1902 0.233 0.1329 0.32 0.05 0.24 0.24 0.2499 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617534 NA NA 0.324535 0.232864 NA 0.167 NA 3.106465 1341 3 169486144 169486144 A G intronic ACTRT3 NA NA NA intronic ENSG00000184378 NA NA NA NA NA 3q26.2 NA NA NA NA rs9822885 0.42 0.42 0.402 0.428714 0.2644 0.6815 0.4294 0.3888 0.3906 0.27 0.69 0.36 0.39 0.3607 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.297653 NA NA 0.268488 0.386972 NA 0.319 NA 3.106412 1341 17 40689613 40689613 G C intronic NAGLU NA NA NA ncRNA_intronic ENSG00000266929 NA NA NA NA NA 17q21.2 NA Name=Pol2 NA NA rs2071046 0.75 0.75 0.776 0.720048 0.7555 0.7212 0.8199 0.7436 0.5798 0.74 0.74 0.83 0.72 0.7325 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11012 NA NA 0.73906 0.75783 NA 0.601 NA 3.1062733 1341 1 78578177 78578177 T C intronic GIPC2 NA NA NA intronic ENSG00000137960 NA NA NA NA NA 1p31.1 NA NA NA NA rs6666954 0.45 0.45 0.475 0.448882 0.2932 0.629 0.2896 0.6536 0.2597 0.29 0.62 0.31 0.62 0.3224 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283741 NA NA 0.278503 0.587329 NA 0.406 NA 3.105897 1341 12 105568122 105568122 G A exonic APPL2 NA synonymous SNV APPL2:NM_001251904:exon21:c.C1983T:p.N661N,APPL2:NM_001251905:exon21:c.C1836T:p.N612N,APPL2:NM_018171:exon21:c.C1965T:p.N655N exonic ENSG00000136044 NA synonymous SNV ENSG00000136044:ENST00000546731:exon2:c.C294T:p.N98N,ENSG00000136044:ENST00000553109:exon7:c.C558T:p.N186N,ENSG00000136044:ENST00000258530:exon21:c.C1965T:p.N655N,ENSG00000136044:ENST00000539978:exon21:c.C1836T:p.N612N,ENSG00000136044:ENST00000551662:exon21:c.C1983T:p.N661N NA NA 12q23.3 NA NA NA NA rs935241 0.91 0.91 0.915 0.934105 0.8499 1 0.9179 0.9327 0.9663 0.85 1 0.91 0.92 0.8815 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526352 NA NA 0.829419 0.926237 NA 0.964 NA 3.1058476 1341 8 139190957 139190957 T G intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA Name=GATA-2 NA NA rs4909747 0.8 0.8 0.792 0.804513 0.6272 0.9812 0.732 0.882 0.7515 0.63 0.98 0.72 0.9 0.6782 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717717 NA NA 0.588784 0.843137 NA 0.732 NA 3.105816 1341 16 20487125 20487125 T G intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs1629314 0.46 0.46 0.449 0.48143 0.2614 0.7758 0.268 0.5545 0.4571 0.27 0.76 0.27 0.54 0.3573 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21383 NA NA 0.275698 0.499092 NA 0.188 NA 3.105602 1341 10 135024388 135024388 A G intronic KNDC1 NA NA NA intronic ENSG00000171798 NA NA NA NA NA 10q26.3 NA NA NA NA rs2998127 0.86 0.86 0.875 0.850639 0.8946 0.7292 0.8588 0.9909 0.7352 0.88 0.74 0.85 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420876 NA NA NA NA NA 0.906 NA 3.1054 1341 5 115426746 115426746 T C intronic COMMD10 NA NA NA intronic ENSG00000145781 NA NA NA Score=259;Name=lod=15 NA 5q23.1 NA NA NA NA rs10065554 0.48 0.48 0.459 0.44389 0.663 0.3859 0.5346 0.1732 0.5798 0.67 0.39 0.62 0.2 0.5842 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403361 NA NA 0.647484 0.255455 ID=COSN167532;OCCURENCE=1(large_intestine) 0.428 NA 3.105316 1341 12 124838774 124838774 T A intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs3817108 0.36 0.36 0.323 0.357827 0.2624 0.4494 0.4582 0.3593 0.2883 0.28 0.44 0.41 0.34 0.3596 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194291 NA NA 0.272771 0.332528 NA NA NA 3.105229 1341 12 125833964 125833964 C T intronic TMEM132B NA NA NA intronic ENSG00000139364 NA NA NA NA NA 12q24.31 NA NA NA NA rs7971264 0.26 0.26 0.243 0.271765 0.3022 0.2728 0.3458 0.1717 0.3221 0.28 0.24 0.34 0.2 0.2988 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921501 NA NA 0.293926 0.194373 NA 0.239 NA 3.105074 1342 3 170857240 170857240 T C intronic TNIK NA NA NA intronic ENSG00000154310 NA NA NA NA NA 3q26.2 NA NA NA NA rs6444965 0.23 0.23 0.227 0.222644 0.3002 0.0883 0.2637 0.261 0.2004 0.29 0.1 0.27 0.27 0.2761 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.017643 NA NA 0.319113 0.269698 ID=COSN167073;OCCURENCE=1(large_intestine) 0.254 NA 3.104587 1342 4 2065373 2065373 T G intronic NAT8L NA NA NA intronic ENSG00000185818 NA NA NA NA NA 4p16.3 NA NA NA NA rs454226 0.75 0.75 0.727 0.716054 0.8956 0.7044 0.8141 0.4879 0.7822 0.9 0.73 0.8 0.51 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639339 NA NA NA NA NA 0.732 NA 3.1044 1342 11 26612870 26612870 A G intronic ANO3 NA NA NA intronic ENSG00000134343 NA NA NA NA NA 11p14.2 NA NA NA NA rs294000 0.84 0.84 0.88 0.83726 0.8956 0.9554 0.8127 0.7148 0.8384 0.87 0.93 0.8 0.74 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566275 NA NA NA NA NA 0.819 NA 3.1044 1342 21 45942111 45942111 A G intronic TSPEAR NA NA NA intronic ENSG00000175894 NA NA NA NA NA 21q22.3 NA NA NA NA rs233230 0.89 0.89 0.913 0.884185 0.8956 0.9355 0.8602 0.8676 0.8589 0.89 0.94 0.85 0.89 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074753 NA NA NA NA NA 0.906 NA 3.1044 1342 2 47277207 47277207 C A intronic TTC7A NA NA NA intronic ENSG00000068724 NA NA NA NA NA 2p21 NA NA NA NA rs3816066 0.5 0.5 0.053 0.611022 0.3936 0.748 0.5519 0.8041 0.4744 0.33 0.65 0.46 0.62 0.4654 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129613 NA NA 0.037209 0.166591 NA NA NA 3.103791 1342 2 17527078 17527078 G A intergenic FAM49A,RAD51AP2 dist=679944;dist=164908 NA NA intergenic ENSG00000214843,ENSG00000236348 dist=60916;dist=39280 NA NA NA NA 2p24.2 NA NA NA NA rs56077500 0.12 0.12 0.117 0.148562 0.2296 0.0198 0.1009 0.0439 0.3732 0.24 0.02 0.12 0.07 NA 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.600536 NA NA NA NA NA 0.167 NA 3.1037334 1342 5 131534499 131534499 C T intronic P4HA2 NA NA NA intronic ENSG00000072682 NA NA NA NA NA 5q31.1 NA NA NA NA rs3749756 0.29 0.29 0.279 0.226038 0.4493 0.1925 0.2767 0.1286 0.1268 0.44 0.22 0.33 0.12 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733351 NA NA 0.447203 0.192919 NA 0.268 NA 3.103497 1342 8 125072426 125072426 T C exonic FER1L6 NA synonymous SNV FER1L6:NM_001039112:exon23:c.T2880C:p.P960P exonic ENSG00000214814 NA synonymous SNV ENSG00000214814:ENST00000399018:exon22:c.T2880C:p.P960P,ENSG00000214814:ENST00000522917:exon23:c.T2880C:p.P960P NA NA 8q24.13 NA NA NA NA rs4483140 0.81 0.81 0.819 0.807907 0.8718 0.6915 0.7435 0.8691 0.8252 0.86 0.72 0.76 0.87 0.8301 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769066 NA NA 0.86128 0.871965 NA 0.913 NA 3.1034866 1342 10 61815335 61815335 C A intronic ANK3 NA NA NA intronic ENSG00000151150 NA NA NA NA NA 10q21.2 NA NA NA NA rs2393609 0.92 0.92 0.915 0.918331 0.8966 0.9107 0.9553 0.9539 0.8742 0.89 0.91 0.96 0.95 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228955 NA NA NA NA NA 0.783 NA 3.1034 1342 17 1679793 1679793 A G intronic SERPINF1 NA NA NA intronic ENSG00000132386 NA NA NA NA NA 17p13.3 NA NA NA NA rs2071021 0.29 0.29 0.252 0.295327 0.3022 0.4028 0.3516 0.1127 0.3845 0.32 0.38 0.3 0.13 0.3111 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145975 NA NA 0.283488 0.148661 NA 0.225 NA 3.103212 1342 22 38463652 38463652 T G intronic PICK1 NA NA NA ncRNA_intronic ENSG00000233739 NA NA NA NA NA 22q13.1 NA NA NA NA rs2076369 0.71 0.71 0.701 0.72524 0.6133 0.7113 0.6326 0.9584 0.6053 0.62 0.69 0.6 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447054 NA NA 0.617222 0.925578 NA 0.587 NA 3.1028113 1342 22 23631823 23631823 T C intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA NA NA rs62219796 0.31 0.31 0.302 0.322684 0.2982 0.0754 0.3242 0.5461 0.2996 0.3 0.09 0.31 0.57 0.3055 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590687 NA NA 0.293605 0.507717 NA 0.297 NA 3.102695 1342 6 29230683 29230683 T C intergenic OR2J2,OR14J1 dist=88332;dist=43784 NA NA ncRNA_exonic ENSG00000204697 NA NA NA NA NA 6p22.1 NA Name=CEBPB NA NA rs3130827 0.51 0.51 0.472 0.514377 0.6402 0.4921 0.549 0.3071 0.6636 0.66 0.46 0.56 0.29 0.618 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162648 NA NA 0.639162 0.398288 NA 0.478 NA 3.102638 1342 6 167453245 167453245 T C intronic FGFR1OP NA NA NA intronic ENSG00000213066 NA NA NA NA NA 6q27 NA NA NA NA rs151604 0.92 0.92 0.914 0.940895 0.8976 0.999 0.9236 0.9198 0.9663 0.88 1 0.9 0.91 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.834327 NA NA NA NA NA 0.942 NA 3.1024 1342 11 121437571 121437571 A G intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA NA NA rs1784920 0.79 0.79 0.755 0.767173 0.8976 0.7222 0.8703 0.6044 0.8262 0.89 0.72 0.89 0.63 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027355 NA NA NA NA NA 0.804 NA 3.1024 1342 21 35276209 35276209 A G intronic ATP5O NA NA NA intronic ENSG00000241837,ENSG00000249209 NA NA NA NA NA 21q22.11 NA NA NA NA rs2834293 0.33 0.33 0.341 0.340455 0.2982 0.3601 0.2161 0.4425 0.3139 0.28 0.36 0.23 0.44 0.3034 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623094 NA NA 0.296395 0.387653 NA 0.341 NA 3.102005 1342 2 47277208 47277208 A G intronic TTC7A NA NA NA intronic ENSG00000068724 NA NA NA NA NA 2p21 NA NA NA NA rs3816065 0.5 0.5 0.088 0.613019 0.3936 0.75 0.5519 0.8094 0.4755 0.33 0.66 0.46 0.63 0.4677 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063148 NA NA 0.03686 0.187245 NA NA NA 3.10184 1342 22 39148483 39148483 G A intronic SUN2 NA NA NA intronic ENSG00000100242 NA NA NA NA NA 22q13.1 NA NA NA NA rs2072798 0.34 0.34 0.338 0.304513 0.2962 0.4544 0.196 0.267 0.2863 0.31 0.49 0.22 0.3 0.3042 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336112 NA NA 0.297791 0.267136 NA 0.297 NA 3.101809 1342 1 156304782 156304782 A G intronic CCT3 NA NA NA intronic ENSG00000163468 NA NA NA NA NA 1q22 NA NA NA NA rs3762281 0.44 0.44 0.374 0.457069 0.4642 0.4742 0.6427 0.2897 0.5266 0.46 0.46 0.6 0.28 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060609 NA NA 0.434004 0.230491 NA 0.384 NA 3.101796 1342 19 53409113 53409113 T C intergenic ZNF320,ZNF816-ZNF321P dist=14514;dist=21275 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=8167;dist=9336 NA NA NA NA 19q13.41 NA NA NA NA rs28382387 0.37 0.37 0.367 0.409145 0.2316 0.2778 0.4986 0.7322 0.227 0.22 0.28 0.41 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040136 NA NA NA NA NA 0.471 NA 3.1017334 1342 19 53409135 53409135 C T intergenic ZNF320,ZNF816-ZNF321P dist=14536;dist=21253 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=8189;dist=9314 NA NA NA NA 19q13.41 NA NA NA NA rs28644464 0.38 0.38 0.399 0.409145 0.2316 0.2778 0.4986 0.7322 0.227 0.22 0.29 0.41 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826334 NA NA NA NA NA 0.464 NA 3.1017334 1342 19 53410373 53410373 A G intergenic ZNF320,ZNF816-ZNF321P dist=15774;dist=20015 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=9427;dist=8076 NA NA NA NA 19q13.41 NA NA NA NA rs2870128 0.39 0.39 0.396 0.409345 0.2316 0.2778 0.4986 0.733 0.227 0.24 0.29 0.43 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70562 NA NA NA NA NA 0.471 NA 3.1017334 1342 19 53410828 53410828 T C intergenic ZNF320,ZNF816-ZNF321P dist=16229;dist=19560 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=9882;dist=7621 NA NA NA NA 19q13.41 NA NA NA NA rs6509702 0.39 0.39 0.395 0.406949 0.2316 0.2778 0.4971 0.7247 0.227 0.24 0.29 0.43 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598887 NA NA NA NA NA 0.471 NA 3.1017334 1342 19 53411166 53411166 A C intergenic ZNF320,ZNF816-ZNF321P dist=16567;dist=19222 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=10220;dist=7283 NA NA NA NA 19q13.41 NA NA NA NA rs7255668 0.38 0.38 0.388 0.425319 0.2316 0.2778 0.5 0.792 0.228 0.22 0.28 0.4 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328961 NA NA NA NA NA 0.486 NA 3.1017334 1342 19 53411347 53411347 C A intergenic ZNF320,ZNF816-ZNF321P dist=16748;dist=19041 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=10401;dist=7102 NA NA NA NA 19q13.41 NA NA NA NA rs7256037 0.39 0.39 0.408 0.403954 0.2316 0.2778 0.4769 0.7239 0.227 0.24 0.29 0.42 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736597 NA NA NA NA NA 0.471 NA 3.1017334 1342 4 78873629 78873629 G A intronic MRPL1 NA NA NA intronic ENSG00000169288 NA NA NA NA NA 4q21.1 NA NA NA NA rs17002849 0.31 0.31 0.286 0.29353 0.2952 0.4702 0.2853 0.1664 0.2873 0.32 0.44 0.28 0.16 0.3072 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283822 NA NA 0.296047 0.200862 NA 0.275 NA 3.101553 1342 6 53160383 53160383 G T intronic ELOVL5 NA NA NA intronic ENSG00000012660 NA NA NA NA NA 6p12.1 NA NA NA NA rs3736732 0.56 0.56 0.559 0.590855 0.4523 0.4296 0.5591 0.9418 0.4479 0.45 0.4 0.56 0.92 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374568 NA NA 0.44626 0.854769 NA 0.543 NA 3.10144 1342 19 14857179 14857179 T C intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs1029476 0.44 0.44 0.412 0.495008 0.2654 0.5228 0.3833 0.6528 0.5685 0.29 0.52 0.35 0.64 0.3573 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138591 NA NA 0.275878 0.601226 NA 0.377 NA 3.101422 1342 6 29976838 29976838 A G ncRNA_exonic HLA-J NA NA NA ncRNA_exonic ENSG00000204622,ENSG00000204623 NA NA NA NA NA 6p22.1 NA NA NA NA rs2275854 0.77 0.77 0.748 0.757388 0.7843 0.7917 0.7896 0.6755 0.7822 0.79 0.82 0.78 0.69 0.781 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764029 NA 0 NA NA NA 0.71 NA 3.1013666 1342 1 226016381 226016381 G A intronic EPHX1 NA NA NA intronic ENSG00000143819 NA NA NA NA NA 1q42.12 NA NA NA NA rs41266229 0.26 0.26 0.255 0.228634 0.325 0.1617 0.2651 0.2133 0.1933 0.34 0.2 0.25 0.21 0.2727 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842062 NA NA 0.301025 0.232727 NA 0.188 NA 3.101275 1342 12 29496224 29496224 G A intronic ERGIC2 NA NA NA intronic ENSG00000087502 NA NA NA NA NA 12p11.22 NA NA NA NA rs3782511 0.28 0.28 0.267 0.289936 0.2962 0.3839 0.2248 0.2247 0.3211 0.3 0.33 0.22 0.22 0.2898 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.274879 NA NA 0.313155 0.22614 NA 0.312 NA 3.100845 1342 7 23808604 23808604 C A intronic STK31 NA NA NA intronic ENSG00000196335 NA NA NA NA NA 7p15.3 NA NA NA NA rs61564984 0.27 0.27 0.237 0.279752 0.3161 0.3998 0.1816 0.1589 0.3517 0.3 0.36 0.19 0.14 0.2973 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721795 NA NA 0.286878 0.180436 ID=COSM150251;OCCURENCE=1(stomach) 0.181 NA 3.099722 1342 3 126218167 126218167 G A intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA NA NA NA rs1168595 0.27 0.27 0.273 0.233227 0.3042 0.2738 0.3228 0.1498 0.1677 0.3 0.27 0.34 0.17 0.298 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295827 NA NA 0.298278 0.172265 NA 0.261 NA 3.099522 1342 1 26524706 26524706 A G intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA NA NA NA rs9970046 0.71 0.71 0.733 0.672524 0.9006 0.4216 0.6628 0.8154 0.5102 0.91 0.41 0.7 0.78 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948088 NA NA NA NA NA 0.739 NA 3.0994 1342 15 38631840 38631840 T C intronic SPRED1 NA NA NA intronic ENSG00000166068 NA NA NA NA NA 15q14 NA NA NA NA rs7163339 0.82 0.82 0.818 0.799321 0.9006 0.8026 0.8401 0.649 0.8661 0.92 0.8 0.82 0.71 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246622 NA NA NA NA NA 0.848 NA 3.0994 1342 8 26265907 26265907 A G intronic BNIP3L NA NA NA intronic ENSG00000104765 NA NA NA NA NA 8p21.2 NA NA NA NA rs9644114 0.2 0.2 0.176 0.197085 0.3191 0.1746 0.1931 0.0514 0.2945 0.33 0.16 0.18 0.06 0.2671 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814619 NA NA 0.314651 0.090785 ID=COSN168293;OCCURENCE=1(large_intestine) 0.08 NA 3.099149 1342 7 100865847 100865847 T C intronic ZNHIT1 NA NA NA intronic ENSG00000106400 NA NA NA NA NA 7q22.1 NA NA NA NA rs10953329 0.35 0.35 0.353 0.386581 0.3052 0.2639 0.268 0.5825 0.4162 0.29 0.26 0.3 0.58 0.3091 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124297 NA NA 0.287311 0.508652 NA 0.464 NA 3.098389 1342 18 9775372 9775372 A G intronic RAB31 NA NA NA intronic ENSG00000168461 NA NA NA NA NA 18p11.22 NA NA Name=32 NA rs6506697 0.68 0.68 0.683 0.696885 0.6173 0.6647 0.7118 0.8487 0.5961 0.62 0.65 0.7 0.81 0.6628 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25666 NA NA 0.621596 0.8125 NA 0.652 NA 3.098304 1342 10 135105983 135105983 C T intronic TUBGCP2 NA NA NA intronic ENSG00000130640 NA NA NA NA NA 10q26.3 NA NA NA NA rs2864768 0.4 0.4 NA 0.365216 0.4523 0.5238 0.4712 0.0688 0.4376 0.46 0.58 0.45 0.07 0.4496 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140465 NA NA NA NA NA NA NA 3.0981 1342 19 46191828 46191828 C T intronic SNRPD2 NA NA NA intronic ENSG00000125743 NA NA NA NA NA 19q13.32 NA NA NA NA rs10403723 0.27 0.27 0.23 0.269968 0.3052 0.2341 0.428 0.1339 0.3425 0.3 0.22 0.42 0.16 0.2981 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411573 1.411573 NA 0.298721 0.156605 NA 0.196 NA 3.097979 1342 20 44523782 44523782 C T intronic CTSA NA NA NA intronic ENSG00000064601 NA NA NA NA NA 20q13.12 NA Name=Pol2-4H8 NA NA rs4608591 0.66 0.66 0.664 0.679912 0.6233 0.7073 0.7478 0.6596 0.6892 0.65 0.69 0.7 0.62 0.6608 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383099 NA NA 0.618023 0.672946 NA 0.667 NA 3.097877 1342 11 125479496 125479496 C T intronic STT3A NA NA NA intronic ENSG00000134910 NA NA NA NA NA 11q24.2 NA NA NA NA rs2241501 0.3 0.3 0.3 0.308307 0.3062 0.4028 0.2133 0.2526 0.3558 0.3 0.36 0.25 0.28 0.2963 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.38901 2.38901 NA 0.299837 0.270332 NA 0.297 NA 3.097663 1342 19 960187 960187 G C intronic ARID3A NA NA NA intronic ENSG00000116017 NA NA NA NA NA 19p13.3 NA Name=CTCF,Rad21,CTCF_(SC-5916) Name=11 NA rs1637993 0.94 0.94 0.934 0.932508 0.9742 0.9891 0.9092 0.8623 0.9427 0.97 1 0.91 0.85 0.9529 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277129 NA NA 0.975349 0.888788 NA 0.949 NA 3.097551 1342 1 119927680 119927680 A G intronic HAO2 NA NA NA intronic ENSG00000116882 NA NA NA Score=304;Name=lod=23 NA 1p12 NA NA NA NA rs6667679 0.67 0.67 0.662 0.667532 0.6203 0.6726 0.7291 0.7042 0.6176 0.61 0.71 0.7 0.68 0.6586 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782274 NA NA 0.623721 0.68906 NA 0.71 NA 3.097379 1342 19 9007748 9007748 A G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs11673136 0.42 0.42 0.392 0.440895 0.4344 0.4613 0.5187 0.2874 0.5787 0.42 0.48 0.54 0.26 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227136 NA NA 0.468259 0.315029 NA 0.377 NA 3.097341 1342 20 44522594 44522594 A G intronic CTSA NA NA NA intronic ENSG00000064601 NA NA NA NA NA 20q13.12 NA NA Name=10 NA rs4810476 0.66 0.66 0.633 0.680112 0.6233 0.7063 0.7478 0.6611 0.6892 0.65 0.69 0.7 0.62 0.661 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194974 NA NA 0.618372 0.674081 NA 0.667 NA 3.097328 1342 14 96852071 96852071 T C UTR3 GSKIP NM_016472:c.*50T>C,NM_001271906:c.*50T>C,NM_001271905:c.*50T>C,NM_001271904:c.*50T>C NA NA UTR3 ENSG00000100744 ENST00000555181:c.*50T>C,ENST00000554182:c.*50T>C,ENST00000556095:c.*50T>C,ENST00000438650:c.*50T>C NA NA NA NA 14q32.2 NA NA NA NA rs1545280 0.3 0.3 0.262 0.258586 0.4274 0.1766 0.4625 0.1157 0.2178 0.44 0.2 0.45 0.1 0.3714 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024063 NA NA 0.437311 0.179382 NA 0.312 NA 3.0972224 1342 19 51919507 51919507 T C intronic LOC100129083,SIGLEC10 NA NA NA ncRNA_intronic ENSG00000255441 NA NA NA NA NA 19q13.41 NA NA NA NA rs62114257 0.24 0.24 0.209 0.266773 0.4433 0.0883 0.3689 0.0499 0.4898 0.41 0.08 0.38 0.05 0.3689 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.527945 2.527945 NA 0.423947 0.104769 NA 0.297 NA 3.0971863 1342 19 58001512 58001512 T A intronic ZNF419 NA NA NA UTR5 ENSG00000105136 ENST00000519310:c.-1420T>A NA NA NA NA 19q13.43 NA NA NA NA rs11672136 0.42 0.42 0.388 0.437101 0.3201 0.5784 0.4669 0.3154 0.5552 0.34 0.63 0.39 0.32 0.4092 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290487 NA NA 0.340225 0.303082 NA 0.348 NA 3.0971417 1342 14 23866713 23866713 A G intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs412768 0.3 0.3 0.309 0.30651 0.2883 0.1607 0.2493 0.4743 0.2894 0.3 0.16 0.3 0.49 0.2965 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885079 NA NA 0.318721 0.472991 ID=COSN164637;OCCURENCE=1(NS) 0.377 NA 3.096479 1342 16 69395434 69395434 A G intronic TERF2 NA NA NA intronic ENSG00000132604 NA NA NA NA NA 16q22.1 NA NA NA NA rs251796 0.26 0.26 0.227 0.241613 0.3022 0.3313 0.3343 0.0295 0.3078 0.31 0.34 0.32 0.04 0.3039 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911927 NA NA 0.297558 0.073703 NA 0.138 NA 3.096342 1342 17 8784361 8784361 A G intronic PIK3R5 NA NA NA intronic ENSG00000141506 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791765 0.24 0.24 0.232 0.222244 0.3052 0.002 0.2997 0.3472 0.1401 0.3 0.0017 0.27 0.39 0.2684 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316502 NA NA 0.330233 0.338856 NA 0.203 NA 3.096167 1342 2 24398446 24398446 A T intronic FAM228A NA NA NA intronic ENSG00000186453,ENSG00000266118 NA NA NA NA NA 2p23.3 Score=811;Name=V$EVI1_03 NA NA NA rs2042468 0.63 0.63 0.602 0.622005 0.6173 0.7768 0.7752 0.4425 0.6012 0.61 0.78 0.75 0.42 0.6432 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.90523 1.90523 NA 0.64357 0.448969 ID=COSM148810;OCCURENCE=1(stomach) 0.645 NA 3.09593 1342 1 226016397 226016397 G A intronic EPHX1 NA NA NA intronic ENSG00000143819 NA NA NA NA NA 1q42.12 NA NA NA NA rs41266231 0.27 0.27 0.273 0.246206 0.325 0.1627 0.2709 0.2769 0.1922 0.34 0.2 0.25 0.26 0.2775 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051924 NA NA 0.301702 0.273761 NA 0.21 NA 3.095798 1342 20 257803 257803 G C intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA NA NA rs6075583 0.25 0.25 0.226 0.195487 0.3012 0.3452 0.2089 0.0136 0.1687 0.32 0.37 0.2 0.02 0.2773 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499144 NA NA 0.325814 0.064231 NA 0.152 NA 3.095686 1342 8 61818964 61818964 T C intergenic CHD7,LOC100130298 dist=38378;dist=59716 NA NA ncRNA_exonic ENSG00000271377 NA NA NA NA NA 8q12.2 NA NA NA NA rs4738844 0.88 0.88 0.853 0.88778 0.9046 0.9246 0.9366 0.7466 0.9888 0.9 0.94 0.94 0.74 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830161 NA NA NA NA NA 0.783 NA 3.0954 1342 10 115373851 115373851 T C intronic NRAP NA NA NA intronic ENSG00000197893 NA NA NA NA NA 10q25.3 NA NA NA NA rs2419850 0.89 0.89 0.88 0.880391 0.9046 0.8958 0.9236 0.8041 0.9121 0.9 0.91 0.91 0.83 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675597 NA NA NA NA NA 0.92 NA 3.0954 1342 2 232390151 232390151 A G intronic NMUR1 NA NA NA intronic ENSG00000171596 NA NA NA NA NA 2q37.1 NA NA NA NA rs3752763 0.33 0.33 0.305 0.34984 0.2763 0.5099 0.4207 0.1513 0.4785 0.28 0.49 0.41 0.18 0.3488 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344031 NA NA 0.279665 0.153794 NA 0.319 NA 3.095235 1342 8 59547804 59547804 C A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs10113830 0.25 0.25 0.229 0.242212 0.33 0.3423 0.1744 0.093 0.2986 0.32 0.29 0.22 0.11 0.2752 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858898 NA NA 0.299651 0.118702 NA 0.203 NA 3.095149 1343 3 149093238 149093238 A G exonic TM4SF1 NA synonymous SNV TM4SF1:NM_014220:exon3:c.T405C:p.T135T exonic ENSG00000169908 NA synonymous SNV ENSG00000169908:ENST00000472441:exon1:c.T138C:p.T46T,ENSG00000169908:ENST00000305366:exon3:c.T405C:p.T135T NA NA 3q25.1 NA NA NA NA rs4771 0.89 0.89 0.883 0.89357 0.837 0.8641 0.9193 0.9629 0.8701 0.84 0.88 0.91 0.95 0.8778 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.534798 2.534798 NA 0.857209 0.950295 NA 0.855 NA 3.0946576 1343 3 124732842 124732842 C A intronic HEG1 NA NA NA intronic ENSG00000173706 NA NA NA NA NA 3q21.2 Score=747;Name=V$MEF2_04 NA NA NA rs6438871 0.72 0.72 0.703 0.73742 0.6223 0.9286 0.7262 0.6339 0.8067 0.65 0.92 0.67 0.63 0.6869 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853243 NA NA 0.596187 0.633952 NA 0.58 NA 3.094613 1343 22 37611951 37611951 C G intergenic SSTR3,RAC2 dist=3598;dist=9359 NA NA upstream ENSG00000226233 NA NA NA NA NA 22q13.1 NA NA NA NA rs5756563 0.25 0.25 0.235 0.214257 0.4056 0.0923 0.2349 0.1581 0.2045 0.39 0.1 0.28 0.17 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.7246 NA NA NA NA NA 0.268 NA 3.0944 1343 2 231333852 231333852 A C intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs1649874 0.18 0.18 0.188 0.182508 0.3221 0.0635 0.1729 0.0794 0.3078 0.31 0.06 0.19 0.11 0.2627 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289049 NA NA 0.321271 0.110304 NA 0.138 NA 3.093929 1343 2 231333834 231333834 G A intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs1649873 0.18 0.18 0.187 0.182508 0.3221 0.0635 0.1729 0.0794 0.3078 0.31 0.06 0.19 0.11 0.2631 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.42462 1.42462 NA 0.321503 0.110531 NA 0.13 NA 3.093297 1343 15 99670989 99670989 T C exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA synonymous SNV ENSG00000182253:ENST00000560674:exon4:c.T1566C:p.P522P,ENSG00000182253:ENST00000328642:exon5:c.T2421C:p.P807P,ENSG00000182253:ENST00000336292:exon5:c.T2421C:p.P807P NA NA 15q26.3 NA NA NA NA rs3743248 0.78 0.78 0.797 0.792732 0.7525 0.7103 0.7493 0.9554 0.7301 0.74 0.73 0.75 0.93 0.7512 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825433 NA NA 0.736469 0.928199 NA 0.645 NA 3.0931643 1343 16 85106500 85106500 C G intronic KIAA0513 NA NA NA intronic ENSG00000135709 NA NA NA NA NA 16q24.1 NA NA NA NA rs7184546 0.2 0.2 0.192 0.218251 0.2922 0.0804 0.2767 0.202 0.2648 0.29 0.07 0.28 0.16 0.2859 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366989 NA NA 0.328837 0.244202 NA 0.188 NA 3.093063 1343 4 2955192 2955192 C G intronic NOP14 NA NA NA ncRNA_intronic ENSG00000249673 NA NA NA NA NA 4p16.3 NA NA NA NA rs1475976 0.42 0.42 0.411 0.401957 0.4304 0.1875 0.4107 0.6815 0.2096 0.44 0.18 0.42 0.67 0.3965 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586105 NA NA 0.413488 0.623695 NA 0.341 NA 3.0929453 1343 6 151130920 151130920 A G intronic PLEKHG1 NA NA NA intronic ENSG00000120278 NA NA NA NA NA 6q25.1 NA NA NA NA rs712215 0.26 0.26 0.232 0.211262 0.33 0.1806 0.1974 0.2035 0.1411 0.33 0.21 0.22 0.22 0.2629 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795158 NA NA 0.314302 0.211076 NA 0.246 NA 3.092798 1343 13 107209378 107209378 T C intronic ARGLU1 NA NA NA intronic ENSG00000134884 NA NA NA NA NA 13q33.3 NA NA NA NA rs9587157 0.31 0.31 0.301 0.347244 0.3062 0.1746 0.3372 0.5061 0.3599 0.31 0.14 0.37 0.47 0.3209 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.148286 NA NA 0.280249 0.467385 ID=COSN164548;OCCURENCE=1(breast) 0.319 NA 3.092651 1343 2 128610719 128610719 T C intronic POLR2D NA NA NA intronic ENSG00000144231 NA NA NA NA NA 2q14.3 NA NA NA NA rs35614229 0.23 0.23 0.201 0.272364 0.3082 0.1776 0.2695 0.1104 0.5542 0.31 0.2 0.26 0.11 0.3016 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.818785 1.818785 NA 0.297558 0.144576 NA 0.246 NA 3.092642 1343 3 131415340 131415340 C T intronic CPNE4 NA NA NA intronic ENSG00000196353 NA NA NA NA NA 3q22.1 NA NA NA NA rs2369134 0.25 0.25 0.258 0.242812 0.3052 0.1181 0.2464 0.2746 0.2618 0.3 0.12 0.25 0.31 0.2834 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826139 NA NA 0.318837 0.282342 NA 0.341 NA 3.092563 1343 4 36179343 36179343 T C intronic ARAP2 NA NA NA intronic ENSG00000047365 NA NA NA NA NA 4p14 NA NA NA NA rs4832797 0.93 0.93 0.924 0.928714 0.9076 1 0.9496 0.8517 0.9663 0.91 1 0.94 0.86 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00108 NA NA NA NA NA 0.87 NA 3.0924 1343 10 71655443 71655443 G A intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA NA NA 10q22.1 NA NA NA NA rs1227744 0.93 0.93 0.94 0.927316 0.9076 0.9891 0.8919 0.9175 0.9223 0.9 1 0.91 0.92 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740603 NA NA NA NA NA 0.891 NA 3.0924 1343 6 31113083 31113083 G A intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265076 0.24 0.24 0.223 0.220248 0.3141 0.0724 0.2752 0.2216 0.2352 0.33 0.09 0.29 0.24 0.2759 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275255 NA NA 0.317645 0.245202 NA 0.225 NA 3.092355 1343 10 5998285 5998285 G A intronic IL15RA NA NA NA intronic ENSG00000134470 NA NA NA NA NA 10p15.1 NA NA NA NA rs3136627 0.44 0.44 0.445 0.446486 0.4304 0.3115 0.4107 0.5711 0.4591 0.42 0.3 0.47 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461432 NA NA 0.477373 0.565751 NA 0.362 NA 3.092227 1343 6 31118942 31118942 T C intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs2517985 0.24 0.24 0.231 0.220248 0.3141 0.0724 0.2752 0.2216 0.2352 0.33 0.09 0.29 0.24 0.2771 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.649966 1.649966 NA 0.316839 0.244371 NA 0.239 NA 3.091961 1343 19 3434413 3434413 C G intronic NFIC NA NA NA intronic ENSG00000141905 NA NA NA NA NA 19p13.3 NA NA NA NA rs2302220 0.4 0.4 0.331 0.386981 0.2744 0.7242 0.5187 0.1346 0.4029 0.28 0.71 0.48 0.14 0.3517 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794079 NA NA 0.282093 0.170903 NA 0.203 NA 3.091807 1343 17 8138643 8138643 A C intronic CTC1 NA NA NA intronic ENSG00000178971 NA NA NA NA NA 17p13.1 NA NA NA NA rs12603646 0.32 0.32 0.282 0.285743 0.2992 0.3313 0.4798 0.1815 0.228 0.3 0.4 0.43 0.17 0.3117 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367431 NA NA 0.297339 0.181206 NA 0.232 NA 3.091761 1343 6 31116142 31116142 G A intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265067 0.24 0.24 0.237 0.220048 0.3141 0.0724 0.2752 0.2224 0.2331 0.33 0.09 0.29 0.24 0.2765 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25858 NA NA 0.317829 0.245364 NA 0.254 NA 3.091571 1343 2 208546867 208546867 C A intergenic METTL21A,CCNYL1 dist=56894;dist=29397 NA NA downstream ENSG00000213082 NA NA NA NA NA 2q33.3 NA NA NA NA rs2010240 0.54 0.54 0.478 0.576278 0.4085 0.6696 0.4712 0.7231 0.5286 0.4 0.65 0.48 0.7 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576658 NA NA NA NA NA 0.457 NA 3.0915 1343 14 90754538 90754538 C T intronic NRDE2 NA NA NA intronic ENSG00000119720 NA NA NA NA NA 14q32.11 NA NA NA NA rs17799226 0.24 0.24 0.215 0.228035 0.328 0.1994 0.3098 0.1021 0.2669 0.32 0.2 0.3 0.1 0.2811 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604592 NA NA 0.300116 0.134589 NA 0.21 NA 3.090784 1343 10 96068480 96068480 A G intronic PLCE1 NA NA NA intronic ENSG00000138193 NA NA NA NA NA 10q23.33 NA NA NA NA rs11187850 0.23 0.23 0.239 0.236422 0.335 0.2292 0.196 0.1831 0.2434 0.32 0.18 0.21 0.16 0.2656 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.813505 1.813505 NA 0.308827 0.199139 NA 0.174 NA 3.090573 1343 7 131195535 131195535 G T intronic PODXL NA NA NA intronic ENSG00000128567 NA NA NA NA NA 7q32.3 NA NA NA NA rs3847113 0.46 0.46 NA 0.452875 0.4364 0.6538 0.4265 0.3533 0.4162 0.46 0.62 0.39 0.35 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.931593 NA NA 0.473129 0.36758 NA 0.493 NA 3.090471 1343 5 169806001 169806001 T C intronic KCNIP1,KCNMB1 NA NA NA intronic ENSG00000145936,ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs314157 0.37 0.37 0.343 0.408546 0.2843 0.373 0.3372 0.5212 0.4714 0.27 0.39 0.34 0.53 0.3349 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44915 NA NA 0.290581 0.481843 NA 0.261 NA 3.090219 1343 21 46932328 46932328 G A UTR3 COL18A1 NM_130445:c.*16G>A,NM_030582:c.*16G>A NA NA UTR3 ENSG00000182871 ENST00000400337:c.*16G>A,ENST00000355480:c.*16G>A,ENST00000359759:c.*16G>A,ENST00000342220:c.*16G>A NA NA NA NA 21q22.3 NA NA NA NA rs7499 0.47 0.47 0.478 0.467252 0.3996 0.5863 0.4107 0.4766 0.4417 0.4 0.59 0.41 0.48 0.4461 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373146 NA NA 0.397439 0.414399 NA 0.406 NA 3.0901944 1343 15 90334345 90334345 C G intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs7168329 0.28 0.28 0.28 0.309105 0.2952 0.2341 0.245 0.3669 0.3681 0.29 0.25 0.24 0.33 0.2971 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377694 NA NA 0.317865 0.345909 NA 0.413 NA 3.089835 1343 17 15811808 15811808 T C intergenic MEIS3P1,ADORA2B dist=118789;dist=36423 NA NA intergenic ENSG00000227790,ENSG00000170425 dist=44341;dist=36423 NA NA NA NA 17p12 NA NA NA NA rs859247 0.26 0.26 0.248 0.253395 0.2435 0.1657 0.2478 0.3737 0.1953 0.24 0.17 0.25 0.41 NA 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263409 NA NA NA NA NA 0.254 NA 3.0898334 1343 15 90333654 90333654 A T intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs8192298 0.28 0.28 0.281 0.309105 0.2962 0.2341 0.245 0.3661 0.3681 0.29 0.25 0.24 0.33 0.2965 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213994 NA NA 0.317748 0.345909 NA 0.348 NA 3.089552 1343 7 142468189 142468189 C G intergenic PRSS1,PRSS3P2 dist=7262;dist=10568 NA NA upstream ENSG00000250591 NA NA NA NA NA 7q34 NA NA NA NA rs1969595 0.54 0.54 0.5 0.609425 0.4105 0.7669 0.4697 0.6679 0.6718 0.4 0.74 0.46 0.58 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304736 NA NA NA NA NA 0.522 NA 3.0895 1343 12 351711 351711 T G intronic SLC6A13 NA NA NA intronic ENSG00000010379 NA NA NA NA NA 12p13.33 NA NA NA NA rs525797 0.79 0.79 0.801 0.75 0.9105 0.6548 0.7032 0.7806 0.6748 0.91 0.66 0.75 0.8 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000895 NA NA NA NA NA 0.841 NA 3.0895 1343 18 30672631 30672631 G A intronic CCDC178 NA NA NA intronic ENSG00000166960 NA NA NA NA NA 18q12.1 NA NA NA NA rs1995096 0.78 0.78 0.751 0.761781 0.9105 0.9048 0.8804 0.3351 0.954 0.92 0.9 0.88 0.33 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.112327 NA NA NA NA NA 0.797 NA 3.0895 1343 10 49790972 49790972 C T intronic ARHGAP22 NA NA NA intronic ENSG00000128805 NA NA NA NA NA 10q11.22 NA NA NA NA rs2289808 0.4 0.4 0.378 0.421526 0.2773 0.7272 0.451 0.2216 0.5041 0.27 0.77 0.4 0.18 0.3661 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517774 NA NA 0.267442 0.24739 NA 0.312 NA 3.089158 1343 1 159684186 159684186 T A intronic CRP NA NA NA intronic ENSG00000132693 NA NA NA NA NA 1q23.2 NA NA NA NA rs1417938 0.2 0.2 0.182 0.192093 0.326 0.0556 0.3228 0.0847 0.2474 0.32 0.06 0.35 0.08 0.2781 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33198 NA NA 0.30686 0.127099 NA 0.181 NA 3.08904 1343 1 196920178 196920178 C T intronic CFHR2 NA NA NA intronic ENSG00000080910 NA NA NA NA NA 1q31.3 NA NA NA NA rs3828032 0.3 0.3 0.306 0.320887 0.3111 0.1706 0.2392 0.4675 0.3456 0.31 0.17 0.28 0.45 0.2912 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703015 NA NA 0.308721 0.416704 NA 0.319 NA 3.088979 1343 8 69002965 69002965 A G intronic PREX2 NA NA NA ncRNA_intronic ENSG00000255206 NA NA NA NA NA 8q13.2 NA NA NA NA rs12544121 0.5 0.5 0.494 0.496805 0.4026 0.4722 0.5072 0.5915 0.4836 0.42 0.51 0.49 0.62 0.4503 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031281 NA NA 0.391512 0.563323 NA 0.449 NA 3.0889213 1343 6 25770707 25770707 G A intronic SLC17A4 NA NA NA intronic ENSG00000146039 NA NA NA NA NA 6p22.2 NA NA NA NA rs4712970 0.42 0.42 0.376 0.384784 0.2922 0.7411 0.4366 0.1936 0.3344 0.3 0.77 0.4 0.21 0.344 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157503 NA NA 0.275116 0.215615 NA 0.239 NA 3.088684 1343 14 71208996 71208996 A G intronic MAP3K9 NA NA NA intronic ENSG00000006432 NA NA NA NA NA 14q24.2 NA NA NA NA rs4899368 0.87 0.87 0.882 0.872404 0.9115 0.7867 0.8689 0.913 0.8681 0.91 0.79 0.87 0.89 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400636 NA NA NA NA NA 0.862 NA 3.0885 1343 18 5407839 5407839 C T intronic EPB41L3 NA NA NA intronic ENSG00000082397 NA NA NA NA NA 18p11.31 NA NA NA NA rs2874686 0.72 0.72 0.684 0.671126 0.9115 0.9177 0.7983 0.1392 0.7986 0.92 0.91 0.81 0.13 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332012 NA NA NA NA NA 0.638 NA 3.0885 1343 2 46739157 46739157 A G UTR3 ATP6V1E2 NM_080653:c.*13T>C NA NA UTR3 ENSG00000250565 ENST00000306448:c.*13T>C,ENST00000522587:c.*13T>C NA NA NA NA 2p21 NA NA NA NA rs3814045 0.45 0.45 0.443 0.447484 0.4056 0.6171 0.5231 0.3676 0.3701 0.4 0.6 0.48 0.35 0.437 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.106882 NA NA 0.402326 0.371312 NA 0.449 NA 3.0884074 1343 6 29942983 29942983 G A ncRNA_exonic HCG9 NA NA NA ncRNA_exonic ENSG00000204625 NA NA NA NA NA 6p22.1 NA NA NA NA rs378971 0.55 0.55 0.555 0.541534 0.5388 0.495 0.6254 0.6044 0.4479 0.52 0.49 0.58 0.64 0.5382 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082653 NA NA 0.501661 0.581511 NA 0.435 NA 3.0880056 1343 5 68609885 68609885 G T intronic CCDC125 NA NA NA intronic ENSG00000183323 NA NA NA NA NA 5q13.2 NA NA NA NA rs11749723 0.42 0.42 0.398 NA NA NA NA NA NA 0.44 0.43 0.43 0.36 0.4573 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621073 NA NA 0.454767 0.39396 NA 0.493 NA 3.087933 1343 17 20209474 20209474 C T intronic SPECC1 NA NA NA ncRNA_UTR3 ENSG00000128487 NA NA NA NA NA 17p11.2 NA NA NA NA rs2120282 0.79 0.79 0.823 0.81889 0.5696 0.9861 0.6686 0.9713 0.8037 0.59 0.99 0.64 0.97 0.6761 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.628754 NA NA NA NA NA 0.732 NA 3.0876333 1343 6 31112602 31112602 G C intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs1265078 0.24 0.24 0.246 0.220248 0.3141 0.0724 0.2752 0.2216 0.2352 0.33 0.09 0.29 0.24 0.2754 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197283 NA NA 0.322907 0.242624 NA 0.232 NA 3.087593 1343 16 20482368 20482368 A G intronic ACSM2A NA NA NA intronic ENSG00000183747 NA NA NA NA NA 16p12.3 NA NA NA NA rs1827711 0.5 0.5 0.521 0.515176 0.2644 0.7758 0.2709 0.6626 0.4785 0.29 0.79 0.28 0.66 0.371 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14232 NA NA 0.277093 0.592601 NA 0.601 NA 3.087507 1343 4 39064126 39064126 G C UTR5 KLHL5 NM_015990:c.-9G>C,NM_199039:c.-9G>C NA NA UTR5 ENSG00000109790 ENST00000359687:c.-9G>C,ENST00000504108:c.-9G>C,ENST00000261426:c.-9G>C,ENST00000381930:c.-9G>C NA NA Score=325;Name=lod=28 NA 4p14 NA NA NA NA rs2711942 0.76 0.76 0.735 0.736222 0.7465 0.8274 0.7882 0.6097 0.7658 0.75 0.84 0.82 0.63 0.752 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.369145 NA NA 0.747497 0.65166 NA 0.601 NA 3.0873364 1343 4 68447200 68447200 A G intronic STAP1 NA NA NA intronic ENSG00000035720 NA NA NA NA NA 4q13.2 NA NA NA NA rs2242331 0.27 0.27 0.265 0.247804 0.3022 0.1657 0.2147 0.3283 0.1912 0.32 0.17 0.24 0.33 0.2842 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.185612 2.185612 NA 0.326512 0.318202 NA 0.181 NA 3.087088 1343 7 66774157 66774157 T C ncRNA_intronic STAG3L4 NA NA NA ncRNA_intronic ENSG00000106610 NA NA NA NA NA 7q11.21 NA NA NA NA rs2041575 0.6 0.6 0.606 0.608027 0.5249 0.6875 0.572 0.6581 0.5695 0.53 0.69 0.55 0.65 0.5564 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811012 NA NA 0.498372 0.654773 NA 0.565 NA 3.0869946 1343 16 57921752 57921752 A G intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs11076207 0.37 0.37 0.375 0.370208 0.3052 0.3333 0.3429 0.59 0.1973 0.31 0.28 0.34 0.6 0.3106 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870206 NA NA 0.297324 0.520789 NA 0.449 NA 3.086876 1343 8 17421279 17421279 T C intronic SLC7A2 NA NA NA intronic ENSG00000003989 NA NA NA NA NA 8p22 NA NA NA NA rs2588173 0.88 0.88 0.869 0.866014 0.9135 0.9494 0.9078 0.7186 0.9008 0.92 0.95 0.93 0.71 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078872 NA NA NA NA NA 0.819 NA 3.0865 1343 20 2474081 2474081 T C intronic ZNF343 NA NA NA intronic ENSG00000088876,ENSG00000256566 NA NA NA NA NA 20p13 NA NA NA NA rs4815270 0.83 0.83 0.779 0.807508 0.9135 0.8571 0.9179 0.5961 0.8548 0.92 0.87 0.92 0.59 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084326 NA NA NA NA NA 0.761 NA 3.0865 1343 15 90335379 90335379 G C intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs8179197 0.28 0.28 0.267 0.310503 0.2952 0.2341 0.2464 0.3707 0.3691 0.29 0.25 0.24 0.33 0.3004 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046644 NA NA 0.317981 0.351364 NA 0.413 NA 3.086419 1343 14 106478513 106478513 C G intergenic ADAM6,LINC00226 dist=40155;dist=265756 NA NA exonic ENSG00000211936 NA synonymous SNV ENSG00000211936:ENST00000390596:exon1:c.G27C:p.L9L NA NA 14q32.33 NA NA NA NA rs1141386 NA NA 0.75 0.817093 0.6819 0.9663 0.8069 0.7731 0.8691 NA NA NA NA 0.7324 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974753 NA NA NA NA NA 0.167 NA 3.0857 1343 15 92663630 92663630 A G intronic SLCO3A1 NA NA NA intronic ENSG00000176463 NA NA NA NA NA 15q26.1 NA NA NA NA rs6496893 0.71 0.71 0.72 0.68151 0.9145 0.3492 0.7695 0.7421 0.6401 0.92 0.36 0.76 0.73 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699413 NA NA NA NA NA 0.659 NA 3.0855 1343 17 7828558 7828558 G T intronic KCNAB3 NA NA NA intronic ENSG00000170049 NA NA NA NA NA 17p13.1 NA NA NA NA rs10852894 0.65 0.65 0.613 0.682708 0.4563 0.9931 0.696 0.5492 0.7669 0.46 0.99 0.64 0.54 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436377 NA NA 0.458202 0.565029 NA 0.616 NA 3.085498 1343 17 76120065 76120065 A G intronic TMC6 NA NA NA intronic ENSG00000141524 NA NA NA NA NA 17q25.3 NA NA NA NA rs2613522 0.42 0.42 0.399 0.473642 0.2823 0.506 0.3631 0.652 0.4744 0.26 0.46 0.37 0.64 0.3484 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753393 NA NA 0.283837 0.600091 NA 0.442 NA 3.085463 1343 10 134999602 134999602 G C exonic KNDC1 NA synonymous SNV KNDC1:NM_152643:exon6:c.G750C:p.T250T exonic ENSG00000171798 NA synonymous SNV ENSG00000171798:ENST00000368571:exon5:c.G555C:p.T185T,ENSG00000171798:ENST00000304613:exon6:c.G750C:p.T250T,ENSG00000171798:ENST00000368572:exon6:c.G750C:p.T250T NA NA 10q26.3 NA NA NA NA rs3008393 0.77 0.77 0.802 0.782149 0.8618 0.6885 0.7939 0.7549 0.8252 0.85 0.7 0.78 0.72 0.8327 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00419 NA NA 0.887074 0.80482 NA 0.174 NA 3.0850926 1344 4 119161619 119161619 A G intronic NDST3 NA NA NA intronic ENSG00000164100 NA NA NA NA NA 4q26 NA NA NA NA rs641962 0.79 0.79 0.76 0.802316 0.9155 0.7937 0.9222 0.5431 0.9601 0.92 0.77 0.92 0.51 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691736 NA NA NA NA ID=COSN167302;OCCURENCE=1(large_intestine) 0.717 NA 3.0845 1344 7 34989364 34989364 T C intronic DPY19L1 NA NA NA intronic ENSG00000173852 NA NA NA NA NA 7p14.3 NA NA NA NA rs2021391 0.23 0.23 0.227 0.21885 0.2992 0.129 0.2594 0.1982 0.228 0.3 0.13 0.26 0.23 0.2835 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998058 NA NA 0.333088 0.215072 NA 0.304 NA 3.084212 1344 7 157930974 157930974 C T intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs3752366 0.38 0.38 0.369 0.34365 0.2893 0.4663 0.4294 0.3396 0.2178 0.29 0.53 0.36 0.37 0.3334 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193946 NA NA 0.293673 0.348616 NA 0.384 NA 3.083627 1344 22 38074434 38074434 G A intronic LGALS1 NA NA NA intronic ENSG00000100097 NA NA NA NA NA 22q13.1 NA NA NA NA rs9622682 0.48 0.48 0.482 0.488219 0.4056 0.4762 0.4438 0.6324 0.4223 0.4 0.5 0.45 0.6 0.5108 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533159 NA NA NA NA NA 0.601 NA 3.0836 1344 5 488298 488298 A G intronic SLC9A3 NA NA NA intronic ENSG00000066230 NA NA NA NA NA 5p15.33 NA NA NA NA rs2303736 0.8 0.8 0.769 0.796925 0.9165 0.5744 0.8098 0.9168 0.7321 0.9 0.55 0.81 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243232 NA NA NA NA NA 0.42 NA 3.0835 1344 2 1168756 1168756 G A intronic SNTG2 NA NA NA intronic ENSG00000172554 NA NA NA NA NA 2p25.3 NA NA NA NA rs4597564 0.38 0.38 0.347 0.372404 0.2853 0.631 0.4452 0.2315 0.3344 0.29 0.62 0.4 0.24 0.3497 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133777 NA NA 0.281794 0.247283 NA 0.37 NA 3.083206 1344 4 8062690 8062690 G A intronic ABLIM2 NA NA NA intronic ENSG00000163995 NA NA NA Score=568;Name=lod=271 NA 4p16.1 NA NA NA NA rs10938683 0.6 0.6 0.69 0.704673 0.6252 0.9206 0.7032 0.5083 0.8303 0.53 0.84 0.59 0.43 0.6953 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172656 NA NA 0.597384 0.539549 NA NA NA 3.082116 1344 10 3149402 3149402 A G intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA Name=60 NA rs10903967 0.61 0.61 0.601 0.595447 0.661 0.8145 0.5317 0.385 0.6319 0.66 0.82 0.47 0.41 0.6174 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.362566 NA NA 0.639651 0.4075 NA 0.522 NA 3.081949 1344 1 201970748 201970748 G A intronic RNPEP NA NA NA ncRNA_intronic ENSG00000234678 NA NA NA NA NA 1q32.1 NA NA NA NA rs4131469 0.37 0.37 0.343 0.310304 0.4294 0.3978 0.438 0.1619 0.2076 0.42 0.45 0.44 0.15 0.3884 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564658 NA NA 0.433837 0.184067 ID=COSN163391;OCCURENCE=1(breast) 0.493 NA 3.0816963 1344 1 207009910 207009910 T C intronic IL19 NA NA NA intronic ENSG00000142224 NA NA NA NA NA 1q32.1 NA NA NA NA rs2243170 0.83 0.83 0.813 0.823882 0.9185 0.7976 0.8617 0.6762 0.9264 0.92 0.78 0.86 0.72 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25512 NA NA NA NA NA 0.812 NA 3.0815 1344 8 61851558 61851558 A C intergenic CHD7,LOC100130298 dist=70972;dist=27122 NA NA ncRNA_exonic ENSG00000255397 NA NA NA NA NA 8q12.2 NA NA NA NA rs4738847 0.72 0.72 0.114 0.865815 0.9185 0.9196 0.9107 0.6717 0.9867 0.73 0.81 0.81 0.53 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473889 NA NA NA NA NA NA NA 3.0815 1344 22 17662699 17662699 A G intronic CECR1 NA NA NA intronic ENSG00000093072 NA NA NA NA NA 22q11.1 NA NA NA NA rs58754958 0.21 0.21 0.224 0.1873 0.327 0.0456 0.1974 0.2186 0.1401 0.33 0.04 0.24 0.21 0.2568 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110102 NA NA 0.334884 0.228552 NA 0.174 NA 3.081316 1344 21 43766560 43766560 G A UTR3 TFF2 NM_005423:c.*82C>T NA NA UTR3 ENSG00000160181 ENST00000291526:c.*82C>T NA NA NA NA 21q22.3 NA NA NA NA rs225334 0.55 0.55 0.558 0.588458 0.6233 0.2708 0.6153 0.8116 0.5593 0.6 0.24 0.62 0.77 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05752 NA NA 0.62885 0.781792 ID=COSN166662;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.623 NA 3.0811834 1344 19 49520502 49520502 C T upstream LHB NA NA NA upstream ENSG00000104826 NA NA NA NA NA 19q13.33 NA NA NA NA rs1960072 0.51 0.51 0.466 0.496006 0.5855 0.3343 0.6081 0.4675 0.5297 0.6 0.34 0.59 0.49 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462998 NA NA NA NA NA 0.304 NA 3.0811666 1344 2 232196472 232196472 T A intronic ARMC9 NA NA NA intronic ENSG00000135931 NA NA NA NA NA 2q37.1 NA NA NA NA rs1729082 0.25 0.25 0.249 0.242612 0.3171 0.2212 0.3012 0.146 0.2771 0.33 0.21 0.26 0.16 0.2985 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.247155 1.247155 NA 0.303372 0.170449 NA 0.326 NA 3.081028 1344 6 158074504 158074504 A G intronic ZDHHC14 NA NA NA intronic ENSG00000175048 NA NA NA NA NA 6q25.3 NA NA NA NA rs636169 0.97 0.97 0.962 0.969649 0.9195 0.999 0.9712 0.9947 0.956 0.92 1 0.96 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204001 NA NA NA NA NA 0.957 NA 3.0805 1344 12 124209352 124209352 C T intronic ATP6V0A2 NA NA NA intronic ENSG00000185344 NA NA NA NA NA 12q24.31 NA NA NA NA rs11837144 0.74 0.74 0.731 0.7498 0.6233 0.9474 0.7709 0.7027 0.7249 0.62 0.95 0.74 0.67 0.6756 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022994 NA NA 0.620814 0.677031 NA 0.739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081552.1;CLNDSDB=.;CLNDSDBID=. 3.080286 1344 12 111758620 111758620 A G intronic CUX2 NA NA NA intronic ENSG00000111249 NA NA NA NA NA 12q24.12 NA NA NA NA rs4766505 0.58 0.58 0.581 0.615415 0.2634 0.8681 0.3343 0.8707 0.5716 0.25 0.89 0.4 0.84 0.4237 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.57212 NA NA 0.232734 0.738016 NA 0.478 NA 3.080166 1344 17 12903599 12903599 A G intronic ELAC2 NA NA NA intronic ENSG00000006744 NA NA NA NA NA 17p12 NA NA NA NA rs3760316 0.26 0.26 0.245 0.286342 0.3151 0.0516 0.2579 0.4002 0.365 0.33 0.1 0.25 0.36 0.3035 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982413 NA NA 0.301395 0.380617 NA 0.254 NA 3.080005 1344 20 61453549 61453549 G A intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA NA NA NA rs2294988 0.27 0.27 0.258 0.234026 0.3042 0.2163 0.2767 0.1679 0.2393 0.32 0.24 0.32 0.19 0.2959 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369797 NA NA 0.320149 0.182334 NA 0.326 NA 3.079751 1344 16 64982033 64982033 C T intronic CDH11 NA NA NA intronic ENSG00000140937 NA NA NA NA NA 16q21 NA NA NA NA rs2280394 0.25 0.25 0.237 0.239816 0.3161 0.3204 0.2349 0.0613 0.3231 0.32 0.32 0.23 0.06 0.2945 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811137 NA NA 0.309723 0.102634 NA 0.246 NA 3.079677 1344 6 70897967 70897967 G A intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs3828775 0.25 0.25 0.24 0.24381 0.3131 0.1944 0.1614 0.2247 0.3078 0.32 0.21 0.19 0.23 0.2908 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419222 NA NA 0.316512 0.239673 NA 0.174 NA 3.079588 1344 7 126079144 126079144 A G UTR3 GRM8 NM_000845:c.*29T>C,NM_001127323:c.*84T>C NA NA UTR3 ENSG00000179603 ENST00000444921:c.*29T>C,ENST00000339582:c.*29T>C,ENST00000358373:c.*84T>C,ENST00000341617:c.*1321T>C,ENST00000472701:c.*302T>C NA NA NA NA 7q31.33 NA NA NA NA rs712723 0.41 0.41 0.393 0.404752 0.4235 0.38 0.4568 0.3646 0.4284 0.43 0.39 0.45 0.36 0.4109 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.293828 NA NA 0.419419 0.386064 NA 0.319 NA 3.0795144 1344 8 61851559 61851559 G A intergenic CHD7,LOC100130298 dist=70973;dist=27121 NA NA ncRNA_exonic ENSG00000255397 NA NA NA NA NA 8q12.2 NA NA NA NA rs9987236 0.7 0.7 0.104 0.868211 0.9205 0.9206 0.9179 0.674 0.9877 0.72 0.8 0.79 0.51 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014999 NA NA NA NA NA NA NA 3.0795 1344 19 371396 371396 G C intronic THEG NA NA NA intronic ENSG00000105549 NA NA NA NA NA 19p13.3 NA NA NA NA rs644644 0.74 0.74 NA 0.830072 0.9205 0.7817 0.8473 0.7882 0.8313 0.82 0.69 0.72 0.7 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668229 NA NA NA NA NA 0.754 NA 3.0795 1344 1 19519887 19519887 G C intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs72651403 0.36 0.36 0.321 0.339457 0.3062 0.629 0.4092 0.1172 0.3262 0.29 0.65 0.37 0.12 0.3248 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.75673 1.75673 NA 0.289535 0.150704 NA 0.203 NA 3.079465 1344 21 31973685 31973685 C T downstream KRTAP22-1 NA NA NA downstream ENSG00000186924 NA NA NA NA NA 21q22.11 NA NA NA NA rs1961491 0.49 0.49 0.47 0.522364 0.5875 0.3026 0.6398 0.4523 0.6933 0.56 0.31 0.64 0.48 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902679 NA NA NA NA NA 0.543 NA 3.0791666 1344 19 43773599 43773599 T C UTR5 PSG9 NM_002784:c.-16A>G NA NA UTR5 ENSG00000183668 ENST00000418820:c.-16A>G,ENST00000593948:c.-16A>G,ENST00000270077:c.-16A>G,ENST00000443718:c.-16A>G,ENST00000244293:c.-16A>G,ENST00000596730:c.-16A>G NA NA NA NA 19q13.31 NA NA NA NA rs1058071 0.62 0.62 0.584 0.667532 0.3787 0.9425 0.5014 0.7254 0.7209 0.37 0.96 0.48 0.73 0.5074 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405131 NA NA 0.368256 0.682705 NA 0.543 NA 3.0789774 1344 22 22724341 22724341 A C intergenic LOC96610,ZNF280B dist=47017;dist=114431 NA NA exonic ENSG00000211649 NA synonymous SNV ENSG00000211649:ENST00000390295:exon2:c.A237C:p.T79T NA NA 22q11.22 NA NA NA NA rs9607803 0.42 0.42 0.373 0.426318 0.4851 0.377 0.4957 0.3056 0.5307 0.49 0.41 0.46 0.29 0.4684 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22624 NA NA 0.467608 0.291447 NA 0.377 NA 3.078892 1344 18 357570 357570 T C intronic COLEC12 NA NA NA intronic ENSG00000158270 NA NA NA NA NA 18p11.32 NA NA NA NA rs685658 0.27 0.27 0.248 0.257788 0.3101 0.0734 0.3343 0.3321 0.2393 0.31 0.1 0.37 0.34 0.2938 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.564251 2.564251 NA 0.317261 0.327735 NA 0.355 NA 3.078839 1344 10 18789724 18789724 T G intronic CACNB2 NA NA NA intronic ENSG00000165995 NA NA NA NA NA 10p12.31 NA NA NA NA rs4485000 0.26 0.26 0.259 0.229832 0.329 0.0377 0.2464 0.3699 0.1247 0.34 0.05 0.27 0.39 0.2769 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.559402 3.559402 NA 0.315698 0.344984 ID=COSN163576;OCCURENCE=1(breast),1(endometrium) 0.225 NA 3.078402 1344 15 51502844 51502844 A C UTR3 CYP19A1 NM_000103:c.*161T>G,NM_031226:c.*161T>G NA NA ncRNA_UTR3 ENSG00000137869 NA NA NA NA NA 15q21.2 NA NA NA NA rs4646 0.68 0.68 0.689 0.664337 0.7097 0.7034 0.5274 0.7156 0.6053 0.71 0.72 0.57 0.67 0.7122 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43212 NA NA NA NA NA 0.63 NA 3.0781 1344 11 77884782 77884782 C T ncRNA_exonic LOC100289388 NA NA NA ncRNA_exonic ENSG00000246174 NA NA NA NA NA 11q14.1 NA NA NA NA rs230661 0.62 0.62 0.615 0.589457 0.5249 0.5 0.6499 0.8601 0.3395 0.53 0.5 0.68 0.85 0.5438 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.306187 2.306187 NA 0.520154 0.803409 NA 0.652 NA 3.0778126 1344 2 43903066 43903066 A G exonic LOC728819 NA synonymous SNV LOC728819:NM_001101330:exon1:c.T396C:p.G132G ncRNA_exonic ENSG00000223658 NA NA NA NA NA 2p21 NA NA NA NA rs3828297 0.54 0.54 0.546 0.542532 0.7217 0.1905 0.5432 0.6082 0.6319 0.73 0.19 0.62 0.62 0.6447 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.832566 NA NA 0.722741 0.652938 ID=COSN166080;OCCURENCE=1(NS) 0.522 NA 3.0775256 1344 2 27528692 27528692 T C intronic TRIM54 NA NA NA intronic ENSG00000138100 NA NA NA NA NA 2p23.3 NA NA NA NA rs4665963 0.38 0.38 0.373 0.46246 0.2485 0.1617 0.4597 0.8926 0.4131 0.24 0.13 0.41 0.87 0.4124 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113356 NA NA 0.261689 0.776113 NA 0.543 NA 3.077411 1344 12 46758494 46758494 A G intronic SLC38A2 NA NA NA intronic ENSG00000134294 NA NA NA NA NA 12q13.11 NA Name=Pol2 NA NA rs2307061 0.76 0.76 0.774 0.759385 0.6451 0.8006 0.6657 0.9569 0.6339 0.67 0.79 0.66 0.93 0.6641 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303267 NA NA 0.613541 0.908988 NA 0.681 NA 3.077259 1344 19 53989843 53989843 A T intronic ZNF813 NA NA NA intronic ENSG00000198346 NA NA NA NA NA 19q13.42 NA NA NA NA rs17173219 0.27 0.27 0.283 0.28774 0.3141 0.1825 0.2709 0.2958 0.3701 0.32 0.17 0.28 0.32 0.302 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368883 NA NA 0.306696 0.29385 NA 0.283 NA 3.077204 1344 1 95332864 95332864 C T intronic SLC44A3 NA NA NA intronic ENSG00000143036 NA NA NA NA NA 1p21.3 NA NA NA NA rs12137650 0.25 0.25 0.227 0.227436 0.3151 0.1508 0.3357 0.2231 0.1452 0.29 0.14 0.35 0.22 0.2828 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.332731 1.332731 NA 0.325116 0.232183 NA 0.435 NA 3.076984 1344 11 3225964 3225964 C A intergenic OSBPL5,MRGPRG dist=39382;dist=13210 NA NA intergenic ENSG00000234791,ENSG00000182170 dist=14805;dist=13210 NA NA NA NA 11p15.4 NA NA NA NA rs10833460 0.26 0.26 0.248 0.26897 0.2565 0.1111 0.3732 0.3631 0.2434 0.25 0.13 0.32 0.39 NA 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207611 NA NA NA NA NA 0.283 NA 3.0768334 1344 8 23004629 23004629 T C intronic TNFRSF10D NA NA NA intronic ENSG00000173530 NA NA NA NA NA 8p21.3 NA NA NA NA rs3924519 0.5 0.5 0.461 0.489816 0.2744 0.8343 0.5086 0.4281 0.4264 0.28 0.88 0.48 0.41 0.3731 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62742 NA NA 0.275814 0.419655 NA 0.391 NA 3.076686 1344 6 36714139 36714139 A G intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs3213535 0.27 0.27 0.315 0.249002 0.3191 0.1806 0.1772 0.3283 0.1912 0.33 0.21 0.19 0.32 0.2834 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047148 NA NA 0.32093 0.300499 NA 0.225 NA 3.07657 1344 7 157930979 157930979 C G intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs3752367 0.41 0.41 0.407 0.3748 0.2893 0.4663 0.4395 0.438 0.2372 0.29 0.53 0.37 0.48 0.3402 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150694 NA NA 0.294022 0.43872 NA 0.42 NA 3.076478 1344 3 12616533 12616533 G A intronic MKRN2 NA NA NA intronic ENSG00000075975 NA NA NA NA NA 3p25.2 NA NA NA NA rs3773341 0.43 0.43 0.46 0.497204 0.2704 0.5605 0.304 0.6369 0.6135 0.27 0.57 0.28 0.65 0.3722 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836541 NA NA 0.281047 0.543577 NA 0.384 NA 3.076353 1344 17 6364753 6364753 A G exonic PITPNM3 NA synonymous SNV PITPNM3:NM_001165966:exon17:c.T2322C:p.D774D,PITPNM3:NM_031220:exon18:c.T2430C:p.D810D exonic ENSG00000091622 NA synonymous SNV ENSG00000091622:ENST00000421306:exon17:c.T2322C:p.D774D,ENSG00000091622:ENST00000262483:exon18:c.T2430C:p.D810D NA NA 17p13.2 NA NA NA NA rs11654099 0.91 0.91 0.914 0.913938 0.8728 0.9058 0.8573 0.9939 0.8967 0.86 0.92 0.86 0.99 0.8687 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63959 NA NA 0.848953 0.967317 NA 0.964 NA 3.0762136 1344 4 54793643 54793643 T C intergenic LNX1-AS2,RPL21P44 dist=322095;dist=58023 NA NA intronic ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs13108674 0.6 0.6 0.635 0.652756 0.5905 0.6667 0.5173 0.6415 0.8139 0.58 0.67 0.53 0.63 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.549349 NA NA NA NA NA 0.63 NA 3.0761667 1344 17 74007846 74007846 A G intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2290251 0.27 0.27 0.282 0.278355 0.3151 0.2183 0.2507 0.3132 0.2751 0.3 0.24 0.25 0.29 0.2926 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045124 NA NA 0.316163 0.306627 NA 0.391 NA 3.076137 1344 12 15702007 15702007 C T intronic PTPRO NA NA NA intronic ENSG00000151490 NA NA NA NA NA 12p12.3 NA NA NA NA rs7132826 0.28 0.28 0.261 0.30611 0.325 0.2698 0.2594 0.3162 0.3436 0.32 0.23 0.29 0.28 0.306 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125187 NA NA 0.29314 0.324557 NA 0.297 NA 3.07586 1344 12 41303825 41303825 A C intronic CNTN1 NA NA NA intronic ENSG00000018236 NA NA NA NA NA 12q12 NA NA NA NA rs2304819 0.23 0.23 0.213 0.221046 0.338 0.2014 0.1859 0.0817 0.3344 0.33 0.2 0.19 0.13 0.275 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500482 NA NA 0.311264 0.099183 NA 0.246 NA 3.075736 1344 15 90336373 90336373 T C intronic ANPEP NA NA NA intronic ENSG00000166825 NA NA NA NA NA 15q26.1 NA NA NA NA rs16943605 0.31 0.31 0.314 0.346246 0.2972 0.2351 0.2594 0.497 0.3691 0.29 0.25 0.26 0.46 0.3082 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.90573 1.90573 NA 0.319028 0.458409 NA 0.449 NA 3.075572 1344 17 8139339 8139339 T C intronic CTC1 NA NA NA intronic ENSG00000178971 NA NA NA NA NA 17p13.1 NA NA NA NA rs66582670 0.33 0.33 0.315 0.307907 0.3002 0.3343 0.4798 0.2602 0.2311 0.3 0.4 0.43 0.23 0.3128 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254035 NA NA 0.311456 0.254455 NA 0.268 NA 3.075544 1344 14 24882440 24882440 G C intronic NYNRIN NA NA NA intronic ENSG00000205978 NA NA NA NA NA 14q12 NA NA NA NA rs4982909 0.89 0.89 0.896 0.896366 0.9245 0.749 0.9611 0.9244 0.9356 0.92 0.76 0.96 0.94 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369793 NA NA NA NA NA 0.913 NA 3.0755 1344 11 1159133 1159133 G A intergenic MUC2,MUC5B dist=54716;dist=85162 NA NA intronic ENSG00000215182 NA NA NA NA NA 11p15.5 NA NA NA NA rs35917282 0.55 0.55 0.544 0.497005 0.5915 0.6825 0.5447 0.2269 0.5399 0.59 0.73 0.58 0.23 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394797 NA NA NA NA NA 0.507 NA 3.0751667 1345 12 123103016 123103016 G T intronic KNTC1 NA NA NA intronic ENSG00000184445 NA NA NA NA NA 12q24.31 NA NA NA NA rs7301589 0.44 0.44 0.284 0.492812 0.3429 0.4484 0.2738 0.8109 0.4182 0.32 0.45 0.3 0.72 0.3504 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.163517 NA NA 0.232004 0.636683 NA 0.123 NA 3.074696 1345 2 15493881 15493881 A G intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA Name=GATA-2 NA NA rs2277915 0.42 0.42 0.38 0.374601 0.6869 0.1825 0.5735 0.1452 0.4202 0.67 0.2 0.57 0.16 0.5555 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472501 NA NA 0.683256 0.255788 NA 0.5 NA 3.074344 1345 9 140055703 140055703 G A intronic GRIN1 NA NA NA intronic ENSG00000176884 NA NA NA NA NA 9q34.3 NA NA NA NA rs41290007 0.16 0.16 0.217 0.143371 0.333 0.002 0.196 0.0461 0.1881 0.34 0.0017 0.2 0.04 0.2731 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055317 NA NA 0.319609 0.086709 NA 0.022 NA 3.074291 1345 16 30376959 30376959 T C intronic TBC1D10B NA NA NA intronic ENSG00000169221 NA NA NA NA NA 16p11.2 NA NA NA NA rs11646130 0.17 0.17 0.164 0.172324 0.327 0.0794 0.2032 0.0356 0.272 0.31 0.08 0.2 0.05 0.2735 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151228 NA NA 0.325349 0.088985 NA 0.261 NA 3.074151 1345 1 19834213 19834213 C T intergenic CAPZB,MINOS1 dist=22147;dist=89258 NA NA intergenic ENSG00000077549,ENSG00000201609 dist=22147;dist=2874 NA NA NA NA 1p36.13 NA NA NA NA rs12041788 0.23 0.23 0.217 0.205072 0.2594 0.4018 0.1484 0.0174 0.2403 0.25 0.4 0.17 0.03 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326189 NA NA NA NA NA 0.138 NA 3.0739334 1345 14 105644151 105644151 T C intronic NUDT14 NA NA NA ncRNA_intronic ENSG00000257622 NA NA NA NA NA 14q32.33 NA NA NA NA rs1882848 0.64 0.64 0.653 0.641573 0.6223 0.5327 0.6297 0.7943 0.5757 0.63 0.58 0.62 0.74 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319728 NA NA 0.63728 0.774566 NA 0.746 NA 3.0737533 1345 3 189689904 189689904 A G intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA NA NA NA rs710543 0.92 0.92 0.918 0.903554 0.9264 0.9375 0.8991 0.9054 0.8456 0.94 0.94 0.91 0.9 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116668 NA NA NA NA NA 0.899 NA 3.0736 1345 20 60990606 60990606 A C intronic RBBP8NL NA NA NA intronic ENSG00000130701 NA NA NA NA NA 20q13.33 NA NA NA NA rs3810554 0.33 0.33 0.303 0.289137 0.3231 0.4395 0.3501 0.1218 0.2822 0.34 0.47 0.31 0.16 0.3177 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54523 NA NA 0.285964 0.146231 NA 0.232 NA 3.073236 1345 14 107095326 107095326 C T intergenic LINC00221,NONE dist=143797;dist=NONE NA NA exonic ENSG00000211970 NA nonsynonymous SNV ENSG00000211970:ENST00000390630:exon2:c.G154A:p.G52S NA NA 14q32.33 NA NA NA NA rs1064309 0.77 0.77 0.92 0.94988 0.9851 1 0.9942 0.9402 0.8436 0.8 0.84 0.77 0.64 0.7751 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470011 NA 0.71 NA NA NA 0.435 NA 3.0731334 1345 11 64024056 64024056 C A intronic PLCB3 NA NA NA intronic ENSG00000149782 NA NA NA NA NA 11q13.1 Score=979;Name=V$AP4_Q5 NA NA NA rs588177 0.43 0.43 0.417 0.406949 0.667 0.2639 0.5202 0.1611 0.5389 0.68 0.26 0.53 0.17 0.5796 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.990879 NA NA 0.680591 0.2408 ID=COSN163976;OCCURENCE=1(breast) 0.5 NA 3.072809 1345 8 22277040 22277040 G A intronic SLC39A14 NA NA NA intronic ENSG00000104635 NA NA NA NA NA 8p21.3 NA NA NA NA rs10101909 0.36 0.36 0.339 0.353834 0.3022 0.5833 0.2983 0.1498 0.4857 0.31 0.63 0.36 0.15 0.3318 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133721 NA NA 0.293256 0.194734 NA 0.304 NA 3.072744 1345 5 176001975 176001975 T C intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs1078450 0.86 0.86 0.846 0.837859 0.9274 0.8403 0.9049 0.733 0.8374 0.93 0.84 0.93 0.74 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043779 NA NA NA NA NA 0.775 NA 3.0726 1345 8 126445537 126445537 C T intronic TRIB1 NA NA NA intronic ENSG00000173334 NA NA NA NA NA 8q24.13 NA NA NA NA rs2235110 0.46 0.46 0.477 0.493411 0.2803 0.6478 0.2983 0.6165 0.5256 0.28 0.64 0.3 0.62 0.3785 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722817 NA NA 0.269365 0.56877 NA 0.457 NA 3.071835 1345 2 224744701 224744701 A G intronic WDFY1 NA NA NA intronic ENSG00000085449 NA NA NA NA NA 2q36.1 NA NA NA NA rs516849 0.71 0.71 0.683 0.715455 0.9284 0.5853 0.8141 0.4614 0.9039 0.93 0.53 0.84 0.49 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564042 NA NA NA NA NA 0.797 NA 3.0716 1345 8 144239660 144239660 G A UTR3 LY6H NM_002347:c.*7C>T,NM_001130478:c.*7C>T,NM_001135655:c.*7C>T NA NA UTR3 ENSG00000176956 ENST00000414417:c.*7C>T,ENST00000342752:c.*7C>T,ENST00000430474:c.*7C>T NA NA NA NA 8q24.3 NA NA NA NA rs7007949 0.43 0.43 0.465 0.428115 0.3996 0.2837 0.3314 0.6846 0.3282 0.4 0.3 0.37 0.7 0.433 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560938 NA NA 0.429737 0.615472 NA 0.565 NA 3.0709964 1345 15 101523661 101523661 G C intronic LRRK1 NA NA NA intronic ENSG00000154237 NA NA NA NA NA 15q26.3 NA NA NA NA rs11632621 0.96 0.96 0.958 0.953275 0.9294 0.999 0.9553 0.9546 0.9274 0.93 1 0.94 0.96 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2084 NA NA NA NA NA 0.928 NA 3.0706 1345 10 97602091 97602091 T C ncRNA_intronic ENTPD1-AS1 NA NA NA ncRNA_intronic ENSG00000226688,ENSG00000240527 NA NA NA NA NA 10q24.1 NA NA NA NA rs3181131 0.48 0.48 0.454 0.498403 0.5119 0.251 0.6513 0.5219 0.5992 0.52 0.26 0.64 0.56 0.5361 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.361857 2.361857 NA 0.548267 0.516122 NA 0.536 NA 3.0703996 1345 19 35451742 35451742 G A intronic ZNF792 NA NA NA intronic ENSG00000180884 NA NA NA NA NA 19q13.11 NA NA NA NA rs2651078 0.31 0.31 0.324 0.325879 0.329 0.1954 0.1859 0.4849 0.3415 0.34 0.2 0.22 0.46 0.3047 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247385 NA NA 0.29593 0.443032 NA 0.254 NA 3.07037 1345 2 68358341 68358341 T C UTR3 WDR92 NM_138458:c.*29A>G NA NA UTR3 ENSG00000243667 ENST00000295121:c.*29A>G NA NA NA NA 2p14 NA NA NA NA rs62145930 0.48 0.48 0.447 0.513578 0.4046 0.496 0.4597 0.5303 0.6595 0.41 0.5 0.49 0.54 0.4693 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211498 NA NA 0.38907 0.493191 NA 0.384 NA 3.0703634 1345 3 39435865 39435865 G C intronic SLC25A38 NA NA NA intronic ENSG00000144659 NA NA NA NA NA 3p22.1 NA NA NA NA rs870843 0.27 0.27 0.256 0.261781 0.3082 0.2778 0.3127 0.1914 0.2566 0.3 0.28 0.3 0.18 0.2966 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575246 NA NA 0.324884 0.214026 NA 0.232 NA 3.070316 1345 17 80887206 80887206 A G intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA NA NA NA rs729124 0.32 0.32 0.285 0.317093 0.3201 0.4712 0.2896 0.211 0.318 0.3 0.45 0.31 0.2 0.3012 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852435 NA NA 0.308559 0.212701 NA 0.37 NA 3.070141 1345 19 36558712 36558712 C T intronic WDR62 NA NA NA intronic ENSG00000075702 NA NA NA NA NA 19q13.12 NA NA NA NA rs10423651 0.29 0.29 0.293 0.2498 0.33 0.2857 0.2219 0.2239 0.1851 0.34 0.29 0.25 0.25 0.2809 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152134 NA NA 0.31907 0.226509 NA 0.159 NA 3.07003 1345 12 46761127 46761127 G A intronic SLC38A2 NA NA NA intronic ENSG00000134294 NA NA NA NA NA 12q13.11 NA NA Name=59 NA rs10880959 0.75 0.75 0.781 0.757188 0.6461 0.8006 0.6643 0.9486 0.6339 0.67 0.79 0.66 0.91 0.6638 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550341 NA NA 0.620493 0.899001 NA 0.681 NA 3.069607 1345 17 7401572 7401572 A T intronic POLR2A NA NA NA intronic ENSG00000181222 NA NA NA NA NA 17p13.1 NA NA NA NA rs41554719 0.16 0.16 0.149 0.117212 0.3429 0.001 0.2089 0.0129 0.0808 0.33 0.0017 0.25 0.02 0.2407 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164303 NA NA 0.346977 0.060826 NA 0.101 NA 3.069423 1345 19 12492036 12492036 A T intergenic ZNF442,ZNF799 dist=15561;dist=8792 NA NA ncRNA_exonic ENSG00000248406 NA NA NA NA NA 19p13.2 NA NA NA NA rs10417283 0.3 0.3 0.264 0.300519 0.4334 0.0665 0.3401 0.3472 0.3139 0.45 0.06 0.39 0.3 0.4973 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052722 NA NA NA NA NA 0.312 NA 3.0693 1345 1 43782846 43782846 G A intronic TIE1 NA NA NA intronic ENSG00000066056 NA NA NA NA NA 1p34.2 NA Name=CTCF NA NA rs1198982 0.74 0.74 0.741 0.80012 0.6233 0.872 0.6412 0.8933 0.8947 0.61 0.87 0.64 0.88 0.6981 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326057 NA NA 0.609302 0.850658 NA 0.659 NA 3.069298 1345 19 4250991 4250991 A G intronic CCDC94 NA NA NA intronic ENSG00000105248 NA NA NA NA NA 19p13.3 NA NA NA NA rs3803908 0.38 0.38 0.384 0.422524 0.3022 0.4464 0.2695 0.528 0.4877 0.31 0.45 0.27 0.51 0.346 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065587 NA NA 0.282674 0.499092 ID=COSN165692;OCCURENCE=1(NS) 0.406 NA 3.069126 1345 6 90450135 90450135 A G intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs2180140 0.47 0.47 0.452 0.440695 0.2813 0.6875 0.5605 0.4198 0.2935 0.29 0.69 0.54 0.43 0.3622 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792268 NA NA 0.287558 0.409215 NA 0.37 NA 3.068942 1345 2 37543371 37543371 A G intronic PRKD3 NA NA NA intronic ENSG00000115825 NA NA NA NA NA 2p22.2 NA NA NA NA rs6544066 0.41 0.41 0.393 0.441494 0.3022 0.5585 0.5072 0.3835 0.4959 0.31 0.53 0.48 0.36 0.3598 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.979092 NA NA 0.26907 0.367453 NA 0.558 NA 3.06893 1345 7 13911420 13911420 G A intergenic ARL4A,ETV1 dist=1180862;dist=19436 NA NA upstream ENSG00000213875 NA NA NA NA NA 7p21.2 NA NA NA NA rs10225805 0.42 0.42 0.384 0.451877 0.4314 0.3681 0.4467 0.4516 0.5634 0.44 0.35 0.44 0.46 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.594946 NA NA NA NA NA 0.362 NA 3.0686 1345 9 136030458 136030458 C T intronic GBGT1 NA NA NA intronic ENSG00000148288,ENSG00000160271 NA NA NA NA NA 9q34.2 NA NA NA NA rs651453 0.9 0.9 0.894 0.885982 0.9314 0.997 0.9251 0.7163 0.9264 0.94 1 0.92 0.72 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460153 NA NA NA NA NA 0.913 NA 3.0686 1345 15 40703609 40703609 A G intronic IVD NA NA NA intronic ENSG00000128928 NA NA NA NA NA 15q15.1 NA NA NA NA rs4924466 0.97 0.97 0.965 0.978435 0.9314 1 0.9712 0.9962 0.9857 0.94 1 0.97 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74369 NA NA NA NA NA 0.971 NA 3.0686 1345 21 43519032 43519032 G A intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs220312 0.3 0.3 0.278 0.282149 0.3151 0.37 0.3761 0.1415 0.2812 0.33 0.36 0.34 0.16 0.307 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725476 NA NA 0.309552 0.174011 NA 0.312 NA 3.068348 1345 11 43515304 43515304 C G intronic TTC17 NA NA NA intronic ENSG00000052841 NA NA NA NA NA 11p11.2 NA NA NA NA rs12276980 0.35 0.35 0.329 0.371605 0.3062 0.0704 0.438 0.6936 0.2669 0.3 0.07 0.42 0.69 0.3229 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283417 NA NA 0.302674 0.626419 NA 0.399 NA 3.068226 1345 4 1741740 1741740 G A intronic TACC3 NA NA NA ncRNA_exonic ENSG00000218422 NA NA NA NA NA 4p16.3 NA NA NA NA rs2249143 0.32 0.32 0.358 0.309305 0.4394 0.1607 0.3199 0.3351 0.2863 0.44 0.18 0.32 0.31 0.3756 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.310979 NA NA 0.450116 0.363595 NA 0.391 NA 3.0682173 1345 2 44531484 44531484 C T intronic SLC3A1 NA NA NA intronic ENSG00000138079 NA NA NA NA NA 2p21 NA Name=GR NA NA rs3738984 0.54 0.54 0.549 0.541933 0.6541 0.3204 0.5807 0.5272 0.6472 0.65 0.35 0.6 0.55 0.61 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920402 NA NA 0.667907 0.55833 NA 0.601 NA 3.067993 1345 19 53832879 53832879 C T intergenic BIRC8,ZNF845 dist=38004;dist=4123 NA NA intergenic ENSG00000174677,ENSG00000213799 dist=13583;dist=4123 NA NA NA NA 19q13.42 NA NA NA NA rs34135479 0.29 0.29 0.264 0.297923 0.2654 0.2837 0.2421 0.3896 0.2618 0.26 0.28 0.24 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267771 NA NA NA NA NA 0.283 NA 3.0679334 1345 19 53832915 53832915 T C intergenic BIRC8,ZNF845 dist=38040;dist=4087 NA NA intergenic ENSG00000174677,ENSG00000213799 dist=13619;dist=4087 NA NA NA NA 19q13.42 NA NA NA NA rs34839043 0.29 0.29 0.263 0.297923 0.2654 0.2837 0.2421 0.3896 0.2618 0.26 0.28 0.24 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.985076 NA NA NA NA NA 0.283 NA 3.0679334 1345 19 53833924 53833924 T C intergenic BIRC8,ZNF845 dist=39049;dist=3078 NA NA intergenic ENSG00000174677,ENSG00000213799 dist=14628;dist=3078 NA NA NA NA 19q13.42 NA NA NA NA rs34697778 0.29 0.29 0.277 0.298123 0.2654 0.2837 0.2421 0.3903 0.2618 0.26 0.28 0.24 0.38 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.400376 NA NA NA NA NA 0.275 NA 3.0679334 1345 16 21222941 21222941 C A upstream ZP2 NA NA NA UTR5 ENSG00000103310 ENST00000574002:c.-73G>T NA NA NA NA 16p12.2 NA NA NA NA rs2075521 0.45 0.45 0.446 0.442891 0.4801 0.5427 0.4006 0.2837 0.547 0.46 0.54 0.46 0.31 0.4524 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.100384 NA NA NA NA NA 0.362 NA 3.0675 1345 21 47766139 47766139 T C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs9982233 0.68 0.68 0.686 0.67512 0.6501 0.6409 0.5447 0.8222 0.6299 0.66 0.69 0.56 0.8 0.6408 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.893748 NA NA 0.641744 0.781434 NA 0.696 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081358.1;CLNDSDB=.;CLNDSDBID=. 3.067356 1345 1 158224825 158224825 C T intronic CD1A NA NA NA intronic ENSG00000158477 NA NA NA NA NA 1q23.1 NA NA NA NA rs411089 0.48 0.48 0.489 0.542732 0.2614 0.6607 0.3934 0.7156 0.5828 0.27 0.64 0.37 0.72 0.3938 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636621 NA NA 0.277791 0.667045 NA 0.486 NA 3.067009 1345 1 111998679 111998679 C A intronic ATP5F1 NA NA NA intronic ENSG00000116459 NA NA NA NA NA 1p13.2 NA NA NA NA rs12047479 0.3 0.3 0.34 0.330871 0.2893 0.3036 0.1859 0.4281 0.3732 0.28 0.3 0.2 0.41 0.3234 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710969 NA NA 0.320349 0.411711 NA 0.348 NA 3.066951 1345 8 82761251 82761251 T G intergenic SNX16,NONE dist=6730;dist=NONE NA NA intergenic ENSG00000104497,ENSG00000254689 dist=6150;dist=36361 NA NA NA NA 8q21.13 NA NA NA NA rs57750343 0.27 0.27 0.269 0.28155 0.2664 0.377 0.3184 0.1029 0.4141 0.28 0.37 0.31 0.13 NA 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5065 NA NA NA NA NA 0.217 NA 3.0669334 1345 19 12492039 12492039 G T intergenic ZNF442,ZNF799 dist=15564;dist=8789 NA NA ncRNA_exonic ENSG00000248406 NA NA NA NA NA 19p13.2 NA NA NA NA rs10414984 0.3 0.3 0.266 0.300519 0.4334 0.0665 0.3401 0.3472 0.3139 0.45 0.06 0.39 0.3 0.4998 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769792 NA NA NA NA NA 0.312 NA 3.0668 1345 2 39233500 39233500 G A intronic SOS1 NA NA NA intronic ENSG00000115904 NA NA NA NA NA 2p22.1 NA NA NA NA rs7577088 0.91 0.91 0.917 0.905152 0.9334 0.8403 0.9452 0.9766 0.818 0.94 0.82 0.92 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154565 NA NA NA NA NA 0.964 NA 3.0666 1345 2 71762232 71762232 C T intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs4852801 0.48 0.48 0.497 0.457668 0.67 0.1865 0.572 0.4856 0.3998 0.67 0.15 0.59 0.47 0.5846 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698465 NA NA 0.678837 0.531548 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080231.1;CLNDSDB=.;CLNDSDBID=. 3.066563 1345 1 93163385 93163385 A G intronic EVI5 NA NA NA intronic ENSG00000067208 NA NA NA NA NA 1p22.1 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs7418336 0.68 0.68 0.7 0.709065 0.6203 0.9296 0.7075 0.5537 0.7843 0.62 0.88 0.65 0.55 0.6838 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17026 NA NA 0.629595 0.545186 NA 0.601 NA 3.066305 1345 12 114395571 114395571 C T intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs2290786 0.24 0.24 0.245 0.240415 0.3181 0.1677 0.2594 0.1505 0.3436 0.31 0.14 0.3 0.19 0.2889 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040536 NA NA 0.327093 0.189741 NA 0.203 NA 3.065907 1345 2 100288931 100288931 G A intronic AFF3 NA NA NA intronic ENSG00000144218 NA NA NA NA NA 2q11.2 NA NA NA NA rs4851222 0.59 0.59 0.604 0.599241 0.4642 0.6538 0.5346 0.7375 0.5409 0.46 0.62 0.52 0.78 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.012556 NA NA 0.470145 0.723266 NA 0.58 NA 3.065655 1345 17 61781984 61781984 G T intronic STRADA NA NA NA UTR3 ENSG00000266173 ENST00000245865:c.*255C>A,ENST00000578008:c.*255C>A NA NA NA NA 17q23.3 NA NA NA NA rs372457035 NA NA NA 0.807109 0.833 0.6319 0.8026 0.9032 0.8344 NA NA NA NA 0.2682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.985136 NA NA NA NA NA NA NA 3.0654667 1345 22 36690113 36690113 G A intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA Name=5 NA rs4821478 0.53 0.53 0.532 0.485623 0.662 0.2113 0.6988 0.5363 0.3671 0.66 0.24 0.68 0.58 0.5917 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.503547 NA NA 0.681089 0.540399 NA 0.601 NA 3.065211 1345 1 248113121 248113121 C A intronic OR2L13 NA NA NA intronic ENSG00000196071 NA NA NA NA NA 1q44 NA NA NA NA rs12030937 0.31 0.31 0.286 0.32508 0.2942 0.4216 0.353 0.1906 0.4192 0.3 0.39 0.38 0.16 0.3369 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581334 NA NA 0.303792 0.188465 NA 0.167 NA 3.065108 1346 18 12678486 12678486 A G intronic CEP76,PSMG2 NA NA NA ncRNA_intronic ENSG00000267411 NA NA NA NA NA 18p11.21 NA NA NA NA rs12966424 0.34 0.34 0.324 0.30631 0.4334 0.3026 0.2882 0.2927 0.2106 0.46 0.27 0.3 0.28 0.4005 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117097 NA NA 0.434798 0.320848 NA 0.435 NA 3.0646353 1346 19 44128437 44128437 A G intronic CADM4 NA NA NA intronic ENSG00000105767 NA NA NA NA NA 19q13.31 NA NA NA NA rs2240633 0.3 0.3 0.279 0.323682 0.3131 0.2679 0.232 0.3699 0.3947 0.32 0.27 0.23 0.36 0.3171 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.155944 NA NA 0.305581 0.353088 NA 0.312 NA 3.064219 1346 6 43538208 43538208 T C intronic XPO5 NA NA NA intronic ENSG00000124571 NA NA NA NA NA 6p21.1 NA NA NA NA rs35642078 0.34 0.34 0.329 0.308706 0.3221 0.62 0.3084 0.062 0.3078 0.33 0.62 0.29 0.07 0.3174 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835705 NA NA 0.296492 0.1038 NA 0.319 NA 3.064008 1346 1 22408106 22408106 G A intronic CDC42 NA NA NA intronic ENSG00000070831 NA NA NA NA NA 1p36.12 NA NA NA NA rs2501282 0.97 0.97 0.972 0.971645 0.9364 0.999 0.9741 0.9992 0.9407 0.93 1 0.97 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407422 NA NA NA NA NA 0.986 NA 3.0636 1346 15 34140735 34140735 A G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2278314 0.85 0.85 0.835 0.864816 0.9364 0.7073 0.9236 0.857 0.9223 0.94 0.69 0.91 0.85 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.733602 2.733602 NA NA NA NA 0.906 NA 3.0636 1346 14 74991959 74991959 T C intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs862030 0.4 0.4 0.398 0.43151 0.2952 0.3373 0.4236 0.6475 0.3824 0.31 0.38 0.37 0.59 0.3433 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183937 NA NA 0.297907 0.595778 NA 0.399 NA 3.063593 1346 1 22832743 22832743 A T intronic ZBTB40 NA NA NA intronic ENSG00000184677 NA NA NA Score=378;Name=lod=46 NA 1p36.12 NA NA NA NA rs209732 0.8 0.8 0.805 0.799121 0.6272 0.8929 0.7997 0.9357 0.6943 0.64 0.91 0.77 0.93 0.6929 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.126342 2.126342 NA 0.616395 0.885837 NA 0.732 NA 3.063505 1346 6 117737390 117737390 G A intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs2243 0.39 0.39 0.39 0.457069 0.3062 0.4395 0.2867 0.6021 0.5552 0.3 0.43 0.3 0.57 0.3555 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.044846 NA NA 0.275064 0.546776 NA 0.442 NA 3.063236 1346 3 136035737 136035737 A G intronic PCCB NA NA NA intronic ENSG00000114054 NA NA NA NA NA 3q22.3 NA NA NA NA rs9833162 0.26 0.26 0.273 0.286342 0.3032 0.0089 0.2017 0.5287 0.2873 0.3 0.01 0.23 0.52 0.3045 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467022 NA NA 0.329419 0.504993 NA 0.333 NA 3.062881 1346 2 20025978 20025978 T C intergenic OSR1,FLJ12334 dist=467606;dist=42637 NA NA upstream ENSG00000213403 NA NA NA NA NA 2p24.1 NA NA NA NA rs6727158 0.69 0.69 0.692 0.730631 0.4374 0.9276 0.6254 0.8812 0.7004 0.45 0.93 0.58 0.85 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187281 NA NA NA NA NA 0.659 NA 3.0626 1346 12 31267744 31267744 A C intergenic DDX11,FAM60A dist=10019;dist=165776 NA NA ncRNA_intronic ENSG00000177359 NA NA NA NA NA 12p11.21 NA NA NA NA rs7968684 0.5 0.5 0.516 0.637181 0.4284 0.8294 0.6095 0.7133 0.5706 0.3 0.74 0.51 0.53 0.5091 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242634 NA NA NA NA NA 0.21 NA 3.0625 1346 17 45479446 45479446 A C intronic EFCAB13 NA NA NA intronic ENSG00000178852 NA NA NA NA NA 17q21.32 NA NA NA NA rs12452315 0.4 0.4 0.392 0.400958 0.4632 0.2609 0.3429 0.4939 0.3967 0.47 0.27 0.4 0.43 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190483 NA NA 0.474595 0.473852 NA 0.37 NA 3.062205 1346 6 168479604 168479604 G A exonic FRMD1 NA synonymous SNV FRMD1:NM_024919:exon1:c.C171T:p.L57L exonic ENSG00000153303 NA synonymous SNV ENSG00000153303:ENST00000283309:exon1:c.C171T:p.L57L,ENSG00000153303:ENST00000468647:exon2:c.C288T:p.L96L,ENSG00000153303:ENST00000509157:exon2:c.C288T:p.L96L,ENSG00000153303:ENST00000511714:exon2:c.C297T:p.L99L NA NA 6q27 NA NA NA NA rs34054991 0.84 0.84 0.861 0.843251 0.8678 0.8234 0.7666 0.8321 0.908 0.87 0.85 0.75 0.86 0.8533 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.569938 NA NA 0.883605 0.841353 NA 0.674 NA 3.0619616 1346 18 57000303 57000303 G A intronic LMAN1 NA NA NA intronic ENSG00000074695 NA NA NA NA NA 18q21.32 NA NA NA NA rs2298712 0.31 0.31 0.317 0.35603 0.3121 0.2778 0.1844 0.4879 0.4254 0.31 0.27 0.21 0.46 0.3163 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106731 NA NA 0.309651 0.427372 NA 0.413 NA 3.061949 1346 7 154172154 154172154 G A intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs3750042 0.26 0.26 0.259 0.273562 0.33 0.0923 0.245 0.3502 0.319 0.33 0.1 0.26 0.34 0.2923 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708218 NA NA 0.315758 0.328806 NA 0.246 NA 3.061942 1346 7 35930260 35930260 G T intronic SEPT7 NA NA NA intronic ENSG00000122545 NA NA NA NA NA 7p14.2 NA NA NA NA rs28522781 0.35 0.35 0.327 0.302316 0.3131 0.3849 0.232 0.3661 0.1697 0.29 0.44 0.28 0.37 0.303 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.705682 1.705682 NA 0.32226 0.37583 NA 0.225 NA 3.06164 1346 7 42977091 42977091 G A exonic MRPL32 NA synonymous SNV MRPL32:NM_031903:exon3:c.G483A:p.T161T exonic ENSG00000106591 NA synonymous SNV ENSG00000106591:ENST00000223324:exon3:c.G483A:p.T161T NA NA 7p14.1 NA NA NA NA rs631132 0.86 0.86 0.84 0.850839 0.8718 0.9107 0.7637 0.7837 0.9202 0.88 0.91 0.82 0.79 0.8686 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88983 NA NA 0.864651 0.790513 NA 0.891 NA 3.0616156 1346 2 24398281 24398281 T G intronic FAM228A NA NA NA intronic ENSG00000186453,ENSG00000266118 NA NA NA NA NA 2p23.3 NA NA NA NA rs2042467 0.86 0.86 0.823 0.854633 0.9384 0.9286 0.9366 0.6165 0.956 0.94 0.93 0.93 0.61 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608778 NA NA NA NA NA 0.819 NA 3.0616 1346 20 8741027 8741027 C T intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs2064286 0.29 0.29 0.305 0.313498 0.3201 0.3175 0.2363 0.2958 0.3814 0.3 0.3 0.3 0.27 0.3055 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.449885 1.449885 NA 0.313315 0.28422 NA 0.326 NA 3.061085 1346 16 21730449 21730449 C T intronic OTOA NA NA NA intronic ENSG00000155719 NA NA NA NA NA 16p12.2 NA NA NA NA rs215901 0.57 0.57 0.579 0.576677 0.6382 0.5069 0.5346 0.5598 0.638 0.63 0.52 0.55 0.56 0.632 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39295 NA NA 0.668721 0.587085 ID=COSM148048;OCCURENCE=1(stomach) 0.674 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041224.1;CLNDSDB=.;CLNDSDBID=. 3.061079 1346 5 44113480 44113480 G C intergenic NNT,FGF10 dist=407812;dist=191617 NA NA intergenic ENSG00000212561,ENSG00000070193 dist=46647;dist=190166 NA NA NA NA 5p12 NA NA NA NA rs10039542 0.37 0.37 0.318 0.391174 0.2724 0.4643 0.5058 0.3578 0.4018 0.27 0.42 0.49 0.37 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.268342 NA NA NA NA NA 0.5 NA 3.0609334 1346 17 10434925 10434925 T C intronic MYH2 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs3744565 0.5 0.5 0.485 0.510184 0.3847 0.8333 0.513 0.2784 0.6176 0.38 0.86 0.51 0.27 0.4794 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657133 NA NA 0.408605 0.31094 NA 0.522 NA 3.0606283 1346 11 64913165 64913165 G A intergenic SYVN1,SPDYC dist=11162;dist=24542 NA NA ncRNA_exonic ENSG00000254455 NA NA NA NA NA 11q13.1 NA NA NA NA rs1149569 0.88 0.88 0.871 0.838658 0.9394 0.9335 0.9078 0.7262 0.7403 0.94 0.91 0.9 0.73 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06837 NA NA NA NA NA 0.884 NA 3.0606 1346 14 20404767 20404767 A G UTR3 OR4K1 NM_001004063:c.*6A>G NA NA UTR3 ENSG00000155249 ENST00000285600:c.*6A>G NA NA NA NA 14q11.2 NA NA NA NA rs2792145 0.41 0.41 0.376 0.393171 0.4284 0.6121 0.4597 0.1286 0.4417 0.41 0.61 0.46 0.16 0.4372 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661254 NA NA 0.407674 0.183613 NA 0.297 NA 3.0600594 1346 5 16681966 16681966 G A intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs399833 0.34 0.34 0.362 0.386382 0.2753 0.2073 0.2882 0.6558 0.3906 0.26 0.23 0.31 0.62 0.3528 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078463 NA NA 0.311905 0.595585 NA 0.478 NA 3.059995 1346 20 6069562 6069562 C T intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs6117076 0.31 0.31 0.289 0.309904 0.3191 0.2927 0.2925 0.2194 0.453 0.32 0.3 0.36 0.25 0.3157 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01823 NA NA 0.305233 0.233772 NA 0.196 NA 3.059967 1346 7 150557748 150557748 G A intronic ABP1 NA NA NA intronic ENSG00000002726 NA NA NA NA NA 7q36.1 NA NA NA NA rs3735076 0.42 0.42 0.443 0.454073 0.2724 0.4802 0.3991 0.5446 0.5307 0.29 0.51 0.41 0.54 0.3691 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801302 NA NA 0.298746 0.455603 ID=COSN168224;OCCURENCE=1(large_intestine) 0.486 NA 3.059754 1346 3 122821478 122821478 T A intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA NA NA 3q21.1 NA NA NA NA rs2241962 0.69 0.69 0.769 0.777157 0.9404 0.7738 0.8012 0.6536 0.7628 0.8 0.67 0.68 0.56 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.530954 NA NA NA NA NA 0.623 NA 3.0596 1346 4 6374189 6374189 A G intronic PPP2R2C NA NA NA intronic ENSG00000074211 NA NA NA NA NA 4p16.1 NA NA NA NA rs6837903 0.93 0.93 0.922 0.936302 0.9404 1 0.9452 0.8396 0.9908 0.94 1 0.94 0.84 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36981 NA NA NA NA NA 0.935 NA 3.0596 1346 16 69377553 69377553 A G intronic TMED6 NA NA NA intronic ENSG00000157315,ENSG00000259900,ENSG00000260371 NA NA NA NA NA 16q22.1 NA NA NA NA rs153060 0.3 0.3 0.261 0.282548 0.331 0.4187 0.353 0.0605 0.3425 0.34 0.41 0.35 0.07 0.3161 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129757 NA NA 0.293488 0.101683 ID=COSM148096;OCCURENCE=1(stomach) 0.181 NA 3.059412 1346 18 46384073 46384073 A G intronic CTIF NA NA NA intronic ENSG00000134030 NA NA NA NA NA 18q21.1 NA NA NA NA rs937021 0.42 0.42 0.444 0.385583 0.4573 0.2292 0.4683 0.5545 0.1861 0.46 0.21 0.47 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66299 NA NA 0.483344 0.544798 ID=COSN165655;OCCURENCE=1(breast) 0.428 NA 3.059356 1346 7 154672679 154672679 A T intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs3817520 0.42 0.42 0.37 0.423522 0.2883 0.5625 0.4856 0.5 0.272 0.28 0.54 0.44 0.46 0.3623 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951775 NA NA 0.290176 0.451754 NA 0.37 NA 3.059224 1346 2 231327291 231327291 A G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs1649863 0.22 0.22 0.209 0.262181 0.3171 0.1766 0.17 0.118 0.5542 0.31 0.17 0.19 0.15 0.3194 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229219 NA NA 0.304525 0.140896 NA 0.174 NA 3.058975 1346 1 91683648 91683648 G A intergenic ZNF644,HFM1 dist=195836;dist=42675 NA NA intergenic ENSG00000232393,ENSG00000162669 dist=193287;dist=42675 NA NA NA NA 1p22.2 NA NA NA NA rs12563349 0.21 0.21 0.183 0.210863 0.2744 0.2778 0.1758 0.0303 0.3456 0.27 0.29 0.17 0.04 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294868 NA NA NA NA NA 0.225 NA 3.0589334 1346 8 41553835 41553835 G A intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs2304883 0.31 0.31 0.317 0.307708 0.3042 0.2966 0.2911 0.3472 0.2812 0.3 0.3 0.27 0.36 0.3072 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300014 NA NA 0.329787 0.352941 NA 0.42 NA 3.058813 1346 17 10411632 10411632 A G intronic MYH1 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs35152572 0.51 0.51 0.478 0.523163 0.3708 0.8631 0.5173 0.2995 0.636 0.38 0.87 0.51 0.28 0.4885 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070736 NA NA 0.415755 0.323944 NA 0.587 NA 3.0582783 1346 6 44147337 44147337 C T intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA NA NA rs56277421 0.23 0.23 0.206 0.179513 0.3708 0.1637 0.2104 0.025 0.1861 0.37 0.2 0.24 0.04 0.2607 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.791498 1.791498 NA 0.310278 0.077582 NA 0.232 NA 3.058222 1346 2 1499728 1499728 C T intronic TPO NA NA NA intronic ENSG00000115705 NA NA NA NA NA 2p25.3 NA NA NA NA rs2276704 0.28 0.28 0.262 0.272764 0.3052 0.2718 0.2925 0.2065 0.316 0.3 0.29 0.3 0.22 0.3248 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72833 NA NA 0.312282 0.224467 NA 0.283 NA 3.057718 1346 19 12014355 12014355 C G intronic ZNF69 NA NA NA intronic ENSG00000198429 NA NA NA NA NA 19p13.2 NA NA NA NA rs11671654 0.37 0.37 0.3 0.357628 0.492 0.5238 0.4092 0.025 0.4611 0.48 0.48 0.41 0.03 0.4505 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917605 NA NA NA NA NA 0.428 NA 3.0575 1346 5 136975687 136975687 G A intronic KLHL3 NA NA NA intronic ENSG00000146021 NA NA NA NA NA 5q31.2 NA NA NA NA rs2074348 0.4 0.4 0.407 0.396166 0.3091 0.4891 0.2896 0.5083 0.3139 0.31 0.51 0.3 0.47 0.3341 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265808 NA NA 0.299419 0.48434 NA 0.319 NA 3.057381 1346 6 29786005 29786005 C T intergenic LOC554223,HLA-G dist=20421;dist=8751 NA NA intergenic ENSG00000237042,ENSG00000204632 dist=5532;dist=8739 NA NA NA NA 6p22.1 NA NA NA NA rs1736950 0.24 0.24 0.246 0.249002 0.2763 0.1121 0.2565 0.2625 0.3384 0.28 0.15 0.23 0.3 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598919 NA NA NA NA NA 0.261 NA 3.0570334 1346 22 23145702 23145702 G A intergenic GGTLC2,MIR650 dist=155334;dist=19568 NA NA intergenic ENSG00000211668,ENSG00000211669 dist=10206;dist=8542 NA NA NA NA 22q11.22 NA NA NA NA rs62220432 0.18 0.18 0.151 0.186102 0.2763 0.0903 0.1686 0.1112 0.3057 0.26 0.1 0.21 0.1 NA 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776478 NA NA NA NA NA 0.101 NA 3.0570334 1346 19 6897392 6897392 G A intronic EMR1 NA NA NA intronic ENSG00000174837 NA NA NA NA NA 19p13.3 NA NA NA NA rs330879 0.46 0.46 0.457 0.478435 0.2724 0.4821 0.4438 0.7579 0.3333 0.26 0.51 0.4 0.74 0.3672 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119016 NA NA 0.303953 0.671357 NA 0.391 NA 3.056447 1346 22 23637200 23637200 T C intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA NA NA rs2239666 0.31 0.31 0.307 0.341454 0.3151 0.1984 0.3804 0.4342 0.363 0.32 0.18 0.36 0.42 0.321 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.868016 NA NA 0.307558 0.44099 NA 0.319 NA 3.056342 1346 17 37879762 37879762 G A intronic ERBB2 NA NA NA intronic ENSG00000141736 NA NA NA NA NA 17q12 NA Name=Pol2-4H8,ZBTB7A_(SC-34508),TAF1,GABP,ELF1_(SC-631) NA NA rs903506 0.49 0.49 0.51 0.451278 0.672 0.4018 0.4784 0.1914 0.6074 0.68 0.48 0.5 0.2 0.6155 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693082 NA NA 0.656235 0.235361 NA 0.457 NA 3.056265 1346 11 80744231 80744231 G A intergenic TENM4,MIR4300 dist=1592536;dist=857552 NA NA intergenic ENSG00000254437,ENSG00000254747 dist=75554;dist=519037 NA NA NA NA 11q14.1 NA NA NA NA rs10897744 0.48 0.48 0.474 0.48103 0.2773 0.8046 0.3718 0.4546 0.4703 0.28 0.82 0.4 0.47 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869823 NA NA NA NA NA 0.399 NA 3.0560334 1346 1 155753676 155753676 A G intronic GON4L NA NA NA intronic ENSG00000116580 NA NA NA NA NA 1q22 NA NA NA NA rs822019 0.84 0.84 0.83 0.819888 0.9443 0.997 0.9337 0.438 0.9448 0.95 1 0.94 0.43 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269219 NA NA NA NA NA 0.819 NA 3.0557 1346 2 84806553 84806553 G A intronic DNAH6 NA NA NA intronic ENSG00000115423 NA NA NA NA NA 2p11.2 NA NA NA NA rs6547569 0.98 0.98 0.981 0.97484 0.9443 0.997 0.9755 0.9962 0.954 0.96 1 0.97 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203285 NA NA NA NA NA 0.978 NA 3.0557 1346 22 49609689 49609689 C A intergenic LOC100128946,C22orf34 dist=315491;dist=403601 NA NA downstream ENSG00000226142 NA NA NA NA NA 22q13.33 NA NA NA NA rs916249 0.37 0.37 0.384 0.334465 0.4443 0.1042 0.3141 0.5696 0.1554 0.42 0.1 0.37 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140893 NA NA NA NA NA 0.514 NA 3.0557 1346 5 39134295 39134295 C T intronic FYB NA NA NA intronic ENSG00000082074 NA NA NA NA NA 5p13.1 NA NA NA NA rs4957318 0.48 0.48 0.473 0.484425 0.3062 0.5913 0.3112 0.7708 0.2935 0.32 0.54 0.3 0.78 0.3485 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110924 NA NA 0.289952 0.691821 NA 0.42 NA 3.055348 1346 2 223499077 223499077 C T intronic FARSB NA NA NA intronic ENSG00000116120 NA NA NA NA NA 2q36.1 NA NA NA NA rs13410038 0.25 0.25 0.244 0.273363 0.333 0.0982 0.2522 0.2511 0.4376 0.32 0.09 0.29 0.28 0.2971 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300747 NA NA 0.314651 0.260554 NA 0.341 NA 3.055249 1347 8 27255080 27255080 A G UTR5 PTK2B NM_173174:c.-22A>G,NM_004103:c.-22A>G,NM_173176:c.-22A>G,NM_173175:c.-22A>G NA NA UTR5 ENSG00000120899 ENST00000544172:c.-22A>G,ENST00000338238:c.-22A>G,ENST00000397501:c.-22A>G,ENST00000522338:c.-22A>G,ENST00000521164:c.-22A>G,ENST00000346049:c.-22A>G,ENST00000420218:c.-22A>G,ENST00000522517:c.-22A>G,ENST00000412793:c.-22A>G,ENST00000517339:c.-22A>G NA NA NA NA 8p21.2 NA NA NA NA rs1128433 0.34 0.34 0.345 0.323482 0.4304 0.2748 0.3833 0.2269 0.3517 0.44 0.27 0.38 0.26 0.4014 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.102129 2.102129 NA 0.446628 0.252156 NA 0.275 NA 3.0549054 1347 16 80654633 80654633 G A intronic CDYL2 NA NA NA intronic ENSG00000166446 NA NA NA NA NA 16q23.2 NA NA NA NA rs4889169 0.47 0.47 0.509 0.477636 0.3042 0.3393 0.513 0.8495 0.271 0.3 0.37 0.51 0.83 0.3621 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450454 NA NA 0.278837 0.741035 NA 0.529 NA 3.054863 1347 16 15132108 15132108 A G intronic NTAN1 NA NA NA intronic ENSG00000157045,ENSG00000179889 NA NA NA NA NA 16p13.11 NA NA NA NA rs2740 0.33 0.33 0.277 0.339856 0.3062 0.37 0.5331 0.1687 0.4376 0.32 0.38 0.48 0.18 0.3383 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189937 NA NA 0.300698 0.206873 NA 0.406 NA 3.054802 1347 17 10399897 10399897 A G intronic MYH1 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs3744563 0.51 0.51 0.472 0.523163 0.3708 0.8641 0.5173 0.2988 0.636 0.37 0.87 0.51 0.28 0.492 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669335 NA NA 0.416376 0.325238 NA 0.587 NA 3.0541573 1347 11 107675566 107675566 C T intronic SLC35F2 NA NA NA intronic ENSG00000110660 NA NA NA NA NA 11q22.3 NA NA NA NA rs495836 0.34 0.34 0.321 0.326478 0.4761 0.1458 0.3617 0.2769 0.4008 0.48 0.15 0.41 0.3 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139055 NA NA 0.469745 0.318116 NA 0.362 NA 3.054155 1347 17 48692881 48692881 C T intronic CACNA1G NA NA NA intronic ENSG00000006283 NA NA NA NA NA 17q21.33 NA NA NA NA rs8066527 0.22 0.22 0.215 0.20008 0.3201 0.0615 0.1859 0.2194 0.2035 0.33 0.04 0.24 0.24 0.2842 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.765618 1.765618 NA 0.341657 0.240786 NA 0.319 NA 3.054043 1347 15 40254155 40254155 A G intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA NA 15q15.1 NA NA NA NA rs510949 0.86 0.86 0.88 0.844249 0.9463 0.7788 0.7003 0.8964 0.8384 0.95 0.77 0.77 0.9 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591676 NA NA NA NA NA 0.877 NA 3.0537 1347 2 171239560 171239560 A G intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA NA NA NA rs12471568 0.23 0.23 0.21 0.214657 0.325 0.2927 0.2493 0.0204 0.2587 0.32 0.27 0.27 0.02 0.2936 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672584 NA NA 0.327819 0.076294 NA 0.181 NA 3.053581 1347 8 142445055 142445055 G C intronic MROH5 NA NA NA ncRNA_exonic ENSG00000271959 NA NA NA NA NA 8q24.3 NA NA NA NA rs13250250 0.34 0.34 0.319 0.34984 0.4314 0.2907 0.2911 0.2958 0.4417 0.42 0.28 0.32 0.29 0.409 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812125 NA NA 0.439354 0.271894 NA 0.312 NA 3.0535793 1347 12 9099034 9099034 G A intronic M6PR NA NA NA UTR5 ENSG00000003056 ENST00000543159:c.-34C>T NA NA NA NA 12p13.31 NA NA NA NA rs4140911 0.27 0.27 0.252 0.277157 0.3857 0.0397 0.4395 0.2867 0.2822 0.37 0.02 0.45 0.29 0.3428 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.072109 5.072109 NA 0.384651 0.31094 NA 0.239 NA 3.0535157 1347 13 101294428 101294428 C G intronic TMTC4 NA NA NA intronic ENSG00000125247 NA NA NA NA NA 13q32.3 NA NA NA NA rs9585476 0.38 0.38 0.348 0.391973 0.3042 0.6091 0.2435 0.3684 0.3957 0.3 0.58 0.23 0.4 0.3503 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.039688 NA NA 0.292115 0.330875 NA 0.384 NA 3.053385 1347 8 17927248 17927248 A C intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs4921567 0.43 0.43 0.388 0.421725 0.4781 0.372 0.5735 0.2526 0.5358 0.47 0.36 0.6 0.3 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167418 NA NA 0.468573 0.257948 NA 0.283 NA 3.053327 1347 20 20168497 20168497 A G intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs2179825 0.79 0.79 0.804 0.805911 0.9473 0.4573 0.8055 0.916 0.8712 0.95 0.42 0.83 0.93 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736227 NA NA NA NA NA 0.877 NA 3.0527 1347 17 42000838 42000838 T G intergenic FAM215A,PPY dist=5483;dist=17334 NA NA upstream ENSG00000267166 NA NA NA NA NA 17q21.31 NA NA NA NA rs2700829 0.24 0.24 0.208 0.204073 0.4473 0.0962 0.2738 0.0635 0.2055 0.45 0.07 0.29 0.07 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107555 NA NA NA NA NA 0.181 NA 3.0527 1347 10 5948638 5948638 C T intronic FBXO18 NA NA NA intronic ENSG00000134452 NA NA NA NA NA 10p15.1 NA NA NA NA rs7082434 0.23 0.23 0.236 0.19349 0.3489 0.0317 0.2089 0.2428 0.1227 0.36 0.02 0.27 0.24 0.2727 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255825 NA NA 0.325777 0.234439 NA 0.268 NA 3.052623 1347 4 185701620 185701620 T C intronic ACSL1 NA NA NA intronic ENSG00000151726 NA NA NA NA NA 4q35.1 NA NA NA NA rs7680850 0.19 0.19 0.171 0.164337 0.3499 0.0645 0.1758 0.0363 0.2413 0.36 0.07 0.22 0.04 0.261 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771709 NA NA 0.336628 0.078302 NA 0.174 NA 3.052472 1347 17 27904617 27904617 C A intronic GIT1 NA NA NA ncRNA_intronic ENSG00000264031 NA NA NA NA NA 17q11.2 NA NA NA NA rs2278217 0.41 0.41 0.405 0.386581 0.4294 0.6855 0.3876 0.0673 0.4652 0.44 0.7 0.36 0.07 0.4206 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15518 NA NA 0.43093 0.129369 NA 0.413 NA 3.0524033 1347 18 34324190 34324190 C T intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs2303509 0.27 0.27 0.245 0.302117 0.3032 0.3214 0.3646 0.1407 0.455 0.29 0.33 0.34 0.12 0.3193 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648451 NA NA 0.325116 0.17862 NA 0.283 NA 3.052384 1347 3 54596815 54596815 T C intronic CACNA2D3 NA NA NA intronic ENSG00000157445 NA NA NA NA NA 3p14.3 NA NA NA NA rs9814659 0.28 0.28 0.273 0.246805 0.3449 0.1825 0.2882 0.2852 0.1309 0.35 0.17 0.3 0.3 0.2731 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125771 NA NA 0.329881 0.238134 ID=COSN166904;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.203 NA 3.052119 1347 3 65350694 65350694 A G intronic MAGI1 NA NA NA intronic ENSG00000151276 NA NA NA NA NA 3p14.1 NA NA NA NA rs55638583 0.21 0.21 0.195 0.164137 0.4692 0.002 0.2334 0.0265 0.1544 0.46 0.0035 0.26 0.04 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.169787 NA NA 0.478905 0.098174 NA 0.239 NA 3.051895 1347 10 18840919 18840919 T A intronic NSUN6 NA NA NA intronic ENSG00000241058 NA NA NA NA NA 10p12.31 NA NA NA NA rs12767546 0.32 0.32 0.32 0.335463 0.3201 0.2381 0.428 0.3328 0.3896 0.34 0.26 0.41 0.3 0.3343 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505131 NA NA 0.293837 0.36246 NA 0.225 NA 3.051763 1347 10 24564831 24564831 C T intronic KIAA1217 NA NA NA intronic ENSG00000120549 NA NA NA NA NA 10p12.2 NA NA NA NA rs10764458 0.91 0.91 0.902 0.86222 0.9483 0.7847 0.9236 0.9766 0.6554 0.96 0.77 0.93 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06262 NA NA NA NA NA 0.891 NA 3.0517 1347 20 20140196 20140196 T C intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs2179823 0.79 0.79 0.814 0.808906 0.9483 0.4573 0.804 0.916 0.8865 0.95 0.42 0.83 0.94 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423131 NA NA NA NA NA 0.891 NA 3.0517 1347 7 150437927 150437927 C T intronic GIMAP1-GIMAP5,GIMAP5 NA NA NA intronic ENSG00000196329 NA NA NA NA NA 7q36.1 NA NA NA NA rs9657894 0.36 0.36 0.371 0.389976 0.3082 0.3016 0.2651 0.5688 0.4121 0.31 0.3 0.3 0.56 0.3336 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044456 NA NA 0.306977 0.54562 NA 0.464 NA 3.051223 1347 17 10362746 10362746 A G intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs2058099 0.52 0.52 0.505 0.532947 0.3708 0.8631 0.5245 0.3321 0.637 0.38 0.87 0.51 0.32 0.4939 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247766 NA NA 0.417442 0.350431 NA 0.601 NA 3.0511913 1347 9 33442986 33442986 A C intronic AQP3 NA NA NA intronic ENSG00000165272 NA NA NA NA NA 9p13.3 NA Name=TBP NA NA rs2231231 0.7 0.7 0.683 0.680711 0.6451 0.7034 0.7161 0.7685 0.5501 0.66 0.71 0.65 0.76 0.6629 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462875 NA NA 0.641163 0.777349 NA 0.703 NA 3.050837 1347 6 158475941 158475941 T C intronic SYNJ2 NA NA NA intronic ENSG00000078269 NA NA NA NA NA 6q25.3 NA NA NA NA rs2296510 0.49 0.49 0.49 0.523562 0.498 0.4871 0.3818 0.5688 0.6268 0.51 0.45 0.42 0.54 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432518 NA NA 0.451288 0.541908 NA 0.565 NA 3.050712 1347 15 52515678 52515678 G T intronic MYO5C NA NA NA intronic ENSG00000128833 NA NA NA NA NA 15q21.2 NA NA NA NA rs4405492 0.68 0.68 0.664 0.650359 0.9493 0.3343 0.8314 0.5083 0.7321 0.95 0.35 0.86 0.51 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.277864 1.277864 NA NA NA ID=COSN164941;OCCURENCE=1(breast) 0.717 NA 3.0507 1347 20 20150182 20150182 A T intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs6112802 0.78 0.78 0.786 0.805112 0.9493 0.4554 0.8012 0.9077 0.8814 0.95 0.42 0.82 0.92 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.700592 NA NA NA NA NA 0.833 NA 3.0507 1347 20 20163425 20163425 A G intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs6046709 0.79 0.79 0.804 0.810503 0.9493 0.4573 0.8012 0.9266 0.8814 0.95 0.42 0.82 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.046418 NA NA NA NA NA 0.891 NA 3.0507 1347 20 20163639 20163639 T C intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs6046710 0.79 0.79 0.813 0.810503 0.9493 0.4573 0.8012 0.9266 0.8814 0.95 0.42 0.82 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050551 NA NA NA NA NA 0.891 NA 3.0507 1347 9 113100012 113100012 T G intronic TXNDC8 NA NA NA intronic ENSG00000204193 NA NA NA NA NA 9q31.3 NA NA NA NA rs7026528 0.33 0.33 0.333 0.355431 0.3231 0.0853 0.3329 0.6778 0.2474 0.3 0.09 0.31 0.68 0.3172 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055221 NA NA 0.309302 0.622333 NA 0.536 NA 3.050398 1347 17 39240426 39240426 G A upstream KRTAP4-7 NA NA NA upstream ENSG00000240871 NA NA NA NA NA 17q21.2 NA NA NA NA rs11658607 0.55 0.55 0.583 NA NA NA NA NA NA 0.63 0.38 0.59 0.58 0.6164 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457394 NA NA NA NA NA 0.08 NA 3.0502666 1347 17 10364191 10364191 T C intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs1029665 0.52 0.52 0.498 0.536342 0.3708 0.8631 0.5231 0.3449 0.638 0.38 0.87 0.51 0.33 0.495 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046014 NA NA 0.417442 0.359737 NA 0.609 NA 3.0500913 1347 3 49750188 49750188 T A intronic RNF123 NA NA NA UTR3 ENSG00000164068 ENST00000432042:c.*46T>A,ENST00000457726:c.*611T>A NA NA NA NA 3p21.31 NA NA NA NA rs3749240 0.61 0.61 0.579 0.597045 0.5249 0.8333 0.6484 0.4138 0.6391 0.54 0.83 0.66 0.45 0.5919 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367628 NA NA NA NA NA 0.638 NA 3.0498667 1347 7 158591851 158591851 C T intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA NA NA NA rs2709855 0.93 0.93 0.938 0.927716 0.9503 0.9524 0.9294 0.8896 0.9294 0.96 0.96 0.94 0.87 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142747 NA NA NA NA NA 0.92 NA 3.0497 1347 8 142185580 142185580 G A intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA NA 8q24.3 NA NA NA NA rs12675070 0.3 0.3 0.311 0.28135 0.3439 0.3274 0.2176 0.1959 0.3303 0.34 0.35 0.25 0.2 0.2933 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574208 NA NA 0.313372 0.23468 NA 0.239 NA 3.049428 1347 7 36661423 36661423 T C intronic AOAH NA NA NA intronic ENSG00000136250 NA NA NA NA NA 7p14.2 NA Name=GATA-2 NA NA rs2727822 0.64 0.64 0.626 0.639776 0.6431 0.5665 0.7089 0.6528 0.6452 0.63 0.6 0.69 0.66 0.6547 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654931 NA NA 0.653488 0.649342 NA 0.754 NA 3.048712 1347 14 71215729 71215729 G A intronic MAP3K9 NA NA NA intronic ENSG00000006432 NA NA NA NA NA 14q24.2 NA NA NA NA rs10129495 0.32 0.32 0.312 0.297324 0.329 0.3254 0.3401 0.3101 0.1881 0.34 0.34 0.35 0.27 0.3152 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.650451 NA NA 0.307093 0.298684 NA 0.326 NA 3.048707 1347 15 69676904 69676904 C T intronic PAQR5 NA NA NA intronic ENSG00000137819 NA NA NA NA NA 15q23 NA NA NA NA rs59560663 0.82 0.82 0.744 0.852436 0.9513 0.7937 0.8689 0.73 0.9652 0.93 0.76 0.85 0.71 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703641 NA NA NA NA NA NA NA 3.0487 1347 10 63995983 63995983 C T exonic RTKN2 NA synonymous SNV RTKN2:NM_145307:exon6:c.G528A:p.V176V exonic ENSG00000182010 NA synonymous SNV ENSG00000182010:ENST00000373789:exon6:c.G528A:p.V176V,ENSG00000182010:ENST00000395265:exon6:c.G528A:p.V176V NA NA 10q21.2 NA NA NA NA rs3852448 0.92 0.92 0.917 0.906949 0.8579 0.9881 0.8991 0.9342 0.8425 0.86 0.99 0.89 0.93 0.8879 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860198 NA NA 0.872558 0.91644 NA 0.848 NA 3.0483086 1347 12 56294428 56294428 C T downstream WIBG NA NA NA downstream ENSG00000170473,ENSG00000257569 NA NA NA NA NA 12q13.2 NA Name=Pol2 NA NA rs9739192 0.79 0.79 0.832 0.794928 0.7962 0.7758 0.7767 0.7814 0.8446 0.8 0.8 0.73 0.79 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050333 NA NA 0.822439 0.777457 NA 0.855 NA 3.0480276 1347 17 38251657 38251657 C A intronic NR1D1 NA NA NA intronic ENSG00000126368 NA NA NA NA NA 17q21.1 NA NA NA NA rs72836608 0.2 0.2 0.188 0.197684 0.341 0.1716 0.183 0.0386 0.3027 0.32 0.14 0.22 0.04 0.2813 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388837 NA NA 0.329765 0.080572 NA 0.261 NA 3.047935 1347 11 64559898 64559898 T C intronic MAP4K2 NA NA NA intronic ENSG00000168067 NA NA NA NA NA 11q13.1 NA NA NA NA rs10897526 0.41 0.41 0.373 0.423323 0.2475 0.7351 0.4798 0.2474 0.4806 0.24 0.74 0.42 0.26 0.4414 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270025 NA NA 0.263268 0.240682 NA 0.261 NA 3.047832 1347 9 107457759 107457759 C T downstream OR13D1 NA NA NA UTR3 ENSG00000179055 ENST00000318763:c.*16C>T NA NA NA NA 9q31.1 NA NA NA NA rs1364946 0.36 0.36 0.34 0.346046 0.3121 0.4504 0.4265 0.2897 0.2924 0.33 0.46 0.4 0.28 0.3413 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138193 NA NA 0.299209 0.31267 NA 0.261 NA 3.047391 1347 19 4332105 4332105 A T intronic STAP2 NA NA NA intronic ENSG00000178078 NA NA NA NA NA 19p13.3 NA NA NA NA rs7258060 0.4 0.4 0.392 0.369409 0.3002 0.5982 0.3242 0.407 0.1861 0.29 0.59 0.31 0.4 0.3267 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316919 NA NA 0.326163 0.374489 NA 0.319 NA 3.046937 1347 12 30877391 30877391 G T intronic CAPRIN2 NA NA NA intronic ENSG00000110888 NA NA NA NA NA 12p11.21 NA NA NA NA rs7299800 0.27 0.27 0.238 0.256989 0.3161 0.2937 0.2075 0.1831 0.2935 0.31 0.3 0.23 0.19 0.299 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407927 NA NA 0.338023 0.219473 NA 0.203 NA 3.046877 1347 10 56287689 56287689 A C intronic PCDH15 NA NA NA ncRNA_intronic ENSG00000234173 NA NA NA NA NA 10q21.1 NA NA NA NA rs10825347 0.57 0.57 0.563 0.606629 0.4006 0.756 0.4222 0.7247 0.636 0.41 0.74 0.41 0.74 0.4936 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.953588 NA NA 0.392284 0.676848 NA 0.601 NA 3.0468493 1347 19 11409061 11409061 C T intronic TSPAN16 NA NA NA intronic ENSG00000130167 NA NA NA NA NA 19p13.2 NA NA NA NA rs377665 0.39 0.39 0.407 0.416334 0.2932 0.2728 0.3444 0.7194 0.3323 0.29 0.26 0.36 0.73 0.3539 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558779 NA NA 0.306512 0.657584 NA 0.522 NA 3.046388 1347 12 31245741 31245741 A G intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs2075321 0.53 0.53 0.46 0.632788 0.4304 0.8095 0.6066 0.7088 0.5746 0.35 0.73 0.51 0.59 0.5236 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685364 NA NA NA NA NA 0.138 NA 3.046 1347 11 5566789 5566789 A G upstream OR52H1 NA NA NA intronic ENSG00000196565 NA NA NA NA NA 11p15.4 NA NA NA NA rs12798586 0.2 0.2 0.184 0.177915 0.2783 0.0804 0.3386 0.1467 0.1033 0.27 0.1 0.31 0.13 0.2376 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466447 NA NA 0.271532 0.173557 NA 0.123 NA 3.0459013 1347 6 167622105 167622105 A G intergenic TCP10L2,UNC93A dist=25709;dist=82698 NA NA downstream ENSG00000216966 NA NA NA NA NA 6q27 NA NA NA NA rs28661326 0.41 0.41 0.258 0.447883 0.4543 0.4871 0.3285 0.4274 0.5133 0.4 0.47 0.33 0.39 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234249 NA NA NA NA NA 0.406 NA 3.0457 1347 19 19945780 19945780 T C intergenic ZNF506,ZNF253 dist=13220;dist=30934 NA NA downstream ENSG00000267419 NA NA NA NA NA 19p13.11 NA NA NA NA rs11085278 0.6 0.6 0.608 0.595847 0.4543 0.8075 0.5764 0.6566 0.455 0.49 0.79 0.51 0.64 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.983373 NA NA NA NA NA 0.514 NA 3.0457 1347 9 137710961 137710961 G A intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs10745388 0.45 0.45 0.447 0.455471 0.4543 0.4038 0.3905 0.5477 0.4315 0.46 0.38 0.4 0.52 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206162 NA NA 0.500629 0.537572 NA 0.572 NA 3.045071 1348 19 49967808 49967808 C T intronic ALDH16A1 NA NA NA intronic ENSG00000161618,ENSG00000269469 NA NA NA NA NA 19q13.33 NA NA NA NA rs34601909 0.25 0.25 0.271 0.210064 0.335 0.006 0.2277 0.3389 0.1053 0.33 0.01 0.25 0.38 0.2702 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438507 NA NA 0.35 0.311394 NA 0.261 NA 3.0448 1348 9 132963129 132963129 G A intronic NCS1 NA NA NA intronic ENSG00000107130 NA NA NA NA NA 9q34.11 NA NA NA NA rs887535 0.95 0.95 0.945 0.939896 0.9553 1 0.9524 0.879 0.9356 0.96 1 0.95 0.86 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820177 NA NA NA NA NA 0.884 NA 3.0447 1348 14 71209025 71209025 C A intronic MAP3K9 NA NA NA intronic ENSG00000006432 NA NA NA NA NA 14q24.2 NA NA NA NA rs4902843 0.32 0.32 0.299 0.297125 0.33 0.3244 0.3401 0.3101 0.1871 0.34 0.33 0.35 0.27 0.3183 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293547 NA NA 0.307093 0.299138 NA 0.326 NA 3.044607 1348 2 206995010 206995010 A G intronic NDUFS1 NA NA NA intronic ENSG00000023228 NA NA NA NA NA 2q33.3 NA NA NA NA rs4147725 0.33 0.33 0.325 0.307907 0.335 0.2133 0.2882 0.4501 0.1994 0.34 0.21 0.34 0.44 0.3086 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062907 NA NA 0.31186 0.43872 NA 0.261 NA 3.04454 1348 2 69045158 69045158 C A intronic ARHGAP25 NA NA NA intronic ENSG00000163219 NA NA NA NA NA 2p13.3 NA NA NA NA rs10197806 0.33 0.33 0.355 0.286142 0.334 0.4097 0.3156 0.2277 0.1677 0.31 0.49 0.27 0.23 0.3024 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0779 NA NA 0.31907 0.256695 NA 0.268 NA 3.04453 1348 4 70592790 70592790 G T UTR3 SULT1B1 NM_014465:c.*16C>A NA NA UTR3 ENSG00000173597 ENST00000310613:c.*16C>A NA NA NA NA 4q13.3 NA NA NA NA rs2292092 0.44 0.44 0.383 0.429712 0.4165 0.6002 0.5101 0.1982 0.5235 0.41 0.63 0.49 0.22 0.4536 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246587 NA NA 0.418818 0.250113 NA 0.362 NA 3.0444154 1348 11 123847392 123847392 G C downstream OR10S1 NA NA NA UTR3 ENSG00000196248 ENST00000531945:c.*11C>G NA NA NA NA 11q24.1 NA NA NA NA rs10893117 0.25 0.25 0.225 0.246605 0.3121 0.3552 0.317 0.0356 0.3027 0.32 0.33 0.27 0.05 0.3121 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092407 NA NA 0.331472 0.090145 NA 0.29 NA 3.044328 1348 19 53263540 53263540 T A intergenic ZNF611,ZNF600 dist=25233;dist=5208 NA NA intergenic ENSG00000213020,ENSG00000189190 dist=25233;dist=3908 NA NA NA NA 19q13.41 NA NA NA NA rs11666783 0.19 0.19 0.196 0.187101 0.2893 0.0962 0.2205 0.1634 0.184 0.29 0.08 0.22 0.15 NA 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659253 NA NA NA NA ID=COSN165913;OCCURENCE=1(breast) 0.152 NA 3.0440334 1348 11 67353844 67353844 C T intronic GSTP1 NA NA NA intronic ENSG00000084207 NA NA NA NA NA 11q13.2 NA NA NA NA rs1871042 0.25 0.25 0.258 0.248203 0.333 0.1468 0.2133 0.2784 0.2495 0.32 0.14 0.22 0.29 0.2879 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.482373 NA NA 0.335464 0.271868 NA 0.29 NA 3.043636 1348 4 89588689 89588689 C T intronic HERC3 NA NA NA intronic ENSG00000138641 NA NA NA NA NA 4q22.1 NA NA NA NA rs3017921 0.48 0.48 0.495 0.534145 0.2793 0.5248 0.2882 0.8207 0.593 0.3 0.56 0.29 0.81 0.3938 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676802 NA NA 0.283419 0.735588 NA 0.522 NA 3.043481 1348 17 38609187 38609187 G A intronic IGFBP4 NA NA NA intronic ENSG00000141753 NA NA NA NA NA 17q21.2 NA NA NA NA rs1009727 0.34 0.34 0.31 0.336062 0.3211 0.5298 0.3055 0.1589 0.4131 0.31 0.51 0.33 0.2 0.3227 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116238 NA NA 0.313023 0.210395 NA 0.232 NA 3.043177 1348 12 9242924 9242924 G C intronic A2M NA NA NA intronic ENSG00000175899 NA NA NA NA NA 12p13.31 NA NA NA NA rs2193005 0.25 0.25 0.222 0.243411 0.3191 0.0764 0.3948 0.2867 0.1718 0.33 0.07 0.39 0.24 0.3062 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737995 NA NA 0.331553 0.270058 ID=COSN164148;OCCURENCE=1(breast) 0.341 NA 3.043147 1348 12 133778684 133778684 G A intronic ZNF268 NA NA NA intronic ENSG00000090612,ENSG00000256825 NA NA NA NA NA 12q24.33 NA NA NA NA rs7963812 0.29 0.29 0.294 0.296126 0.3449 0.1111 0.2565 0.447 0.2607 0.35 0.08 0.26 0.45 0.2812 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420648 NA NA 0.330962 0.405609 NA 0.297 NA 3.042938 1348 14 70496867 70496867 C T intronic SMOC1 NA NA NA intronic ENSG00000198732 NA NA NA NA NA 14q24.2 NA NA NA NA rs227402 0.57 0.57 0.599 0.552117 0.498 0.499 0.598 0.77 0.3354 0.51 0.51 0.57 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629415 NA NA 0.459068 0.728986 NA 0.551 NA 3.042932 1348 8 75924820 75924820 A C intronic CRISPLD1 NA NA NA intronic ENSG00000121005 NA NA NA NA NA 8q21.11 NA NA NA NA rs12115090 0.4 0.4 0.419 0.421126 0.3002 0.2946 0.2493 0.8215 0.2566 0.31 0.26 0.27 0.8 0.3465 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285949 NA NA 0.310842 0.726055 ID=COSN168354;OCCURENCE=1(large_intestine) 0.464 NA 3.042458 1348 4 173269638 173269638 T C intronic GALNTL6 NA NA NA intronic ENSG00000174473 NA NA NA NA NA 4q34.1 NA NA NA NA rs333399 0.44 0.44 0.48 0.444888 0.3201 0.5387 0.3271 0.6596 0.2699 0.32 0.53 0.3 0.64 0.3506 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624582 NA NA 0.286977 0.606219 NA 0.384 NA 3.042323 1348 17 10446182 10446182 C T intronic MYH2 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs719277 0.51 0.51 0.476 0.510783 0.3847 0.8333 0.5144 0.2799 0.6176 0.38 0.86 0.52 0.28 0.4994 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41009 NA NA 0.406942 0.30895 NA 0.5 NA 3.0422913 1348 19 4254308 4254308 T C intronic CCDC94 NA NA NA intronic ENSG00000105248 NA NA NA NA NA 19p13.3 NA NA NA NA rs11085067 0.43 0.43 0.43 0.466653 0.3082 0.4444 0.2781 0.6876 0.4877 0.32 0.45 0.27 0.68 0.3603 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104073 NA NA 0.289419 0.638448 NA 0.399 NA 3.042081 1348 4 113356259 113356259 C T intronic ALPK1 NA NA NA intronic ENSG00000073331 NA NA NA NA NA 4q25 NA NA NA NA rs3815071 0.34 0.34 0.299 0.313299 0.3111 0.494 0.268 0.174 0.3497 0.34 0.49 0.28 0.19 0.3297 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872755 NA NA 0.317353 0.182119 NA 0.283 NA 3.041847 1348 5 162896856 162896856 T C intronic HMMR NA NA NA intronic ENSG00000072571 NA NA NA NA NA 5q34 NA NA NA NA rs299283 0.43 0.43 0.434 0.422524 0.3002 0.5288 0.33 0.5968 0.2689 0.32 0.53 0.35 0.54 0.361 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.930088 NA NA 0.296977 0.56355 ID=COSN167631;OCCURENCE=1(large_intestine) 0.435 NA 3.041823 1348 7 156469096 156469096 C T intronic RNF32 NA NA NA ncRNA_exonic ENSG00000225666 NA NA NA NA NA 7q36.3 NA NA NA NA rs2302149 0.44 0.44 0.461 0.434904 0.4205 0.4087 0.4496 0.531 0.3364 0.43 0.41 0.41 0.54 0.4364 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576621 NA NA 0.434737 0.506134 NA 0.065 NA 3.0416963 1348 1 1581713 1581713 A C intronic CDK11B NA NA NA intronic ENSG00000248333 NA NA NA NA NA 1p36.33 NA NA NA NA rs76922129 0.3 0.3 NA 0.249201 0.4821 0.2282 0.3256 0.0287 0.2751 0.48 0.23 0.37 0.04 NA 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866701 NA NA 0.47643 0.09104 NA 0.087 NA 3.04147 1348 17 21901945 21901945 G C intergenic FAM27L,FLJ36000 dist=75446;dist=2117 NA NA intergenic ENSG00000266806,ENSG00000266172 dist=42929;dist=2179 NA NA NA NA 17p11.2 NA NA NA NA rs8072844 0.38 0.38 0.338 0.38738 0.2922 0.5873 0.3991 0.3707 0.2935 0.29 0.55 0.36 0.35 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660452 NA NA NA NA NA 0.29 NA 3.0411334 1348 1 110200360 110200360 T C intronic GSTM4 NA NA NA intronic ENSG00000168765 NA NA NA NA NA 1p13.3 NA NA NA NA rs560018 0.19 0.19 0.159 0.154952 0.328 0.0466 0.2262 0.0938 0.1207 0.33 0.04 0.24 0.1 0.265 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.460179 NA NA 0.366047 0.129369 NA 0.188 NA 3.040953 1348 19 10079013 10079013 G C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs3815747 0.29 0.29 0.284 0.307508 0.3082 0.3482 0.2248 0.2398 0.4151 0.3 0.37 0.23 0.22 0.3197 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630103 NA NA 0.331395 0.258965 NA 0.232 NA 3.040705 1348 3 120428621 120428621 T C intronic RABL3 NA NA NA intronic ENSG00000144840 NA NA NA NA NA 3q13.33 NA NA NA NA rs11720353 0.23 0.23 0.221 0.201677 0.3419 0.127 0.2233 0.18 0.1483 0.35 0.15 0.23 0.16 0.2806 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.658089 1.658089 NA 0.337326 0.205402 NA 0.326 NA 3.040174 1348 17 21901936 21901936 C T intergenic FAM27L,FLJ36000 dist=75437;dist=2126 NA NA intergenic ENSG00000266806,ENSG00000266172 dist=42920;dist=2188 NA NA NA NA 17p11.2 NA NA NA NA rs8068925 0.38 0.38 0.301 0.387181 0.2932 0.5883 0.4006 0.3691 0.2914 0.29 0.55 0.36 0.35 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601091 NA NA NA NA NA NA NA 3.0401334 1348 11 1078393 1078393 T C intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs7104590 0.43 0.43 0.45 0.436102 0.3131 0.4435 0.1974 0.8026 0.229 0.33 0.41 0.2 0.8 0.3334 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61221 NA NA 0.313442 0.711943 NA 0.341 NA 3.040058 1348 7 121059871 121059871 G A intergenic FAM3C,PTPRZ1 dist=23449;dist=453288 NA NA ncRNA_exonic ENSG00000227371 NA NA NA NA NA 7q31.31 NA NA NA NA rs2707500 0.73 0.73 0.698 0.678115 0.9602 0.7341 0.7738 0.2474 0.8446 0.97 0.76 0.79 0.27 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.482131 NA NA NA NA NA 0.667 NA 3.0398 1348 15 62374593 62374593 C T intergenic C2CD4A,C2CD4B dist=11477;dist=81144 NA NA downstream ENSG00000259466 NA NA NA NA NA 15q22.2 NA NA NA NA rs1436963 0.43 0.43 0.375 0.408347 0.4602 0.3671 0.6037 0.3215 0.3763 0.47 0.37 0.56 0.33 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681306 NA NA NA NA NA 0.312 NA 3.0398 1348 16 78143607 78143607 C T intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA NA NA rs2287972 0.46 0.46 0.443 0.466254 0.493 0.6667 0.5403 0.1513 0.6053 0.49 0.65 0.49 0.15 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133651 NA NA 0.467316 0.210983 NA 0.413 NA 3.039684 1348 6 142724918 142724918 C T intronic GPR126 NA NA NA intronic ENSG00000112414 NA NA NA NA NA 6q24.1 NA NA NA NA rs9496369 0.43 0.43 0.464 0.456869 0.3181 0.4058 0.3703 0.7557 0.3098 0.29 0.38 0.36 0.76 0.353 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887797 NA NA 0.289777 0.668778 NA 0.326 NA 3.039123 1348 17 79411662 79411662 G A intronic BAHCC1 NA NA NA intronic ENSG00000171282 NA NA NA NA NA 17q25.3 NA NA NA NA rs11655860 0.22 0.22 0.194 0.188898 0.3539 0.004 0.2133 0.2239 0.1452 0.37 0.0017 0.28 0.19 0.2746 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.514883 NA NA 0.332409 0.239723 NA 0.13 NA 3.039091 1348 15 51502986 51502986 G A UTR3 CYP19A1 NM_000103:c.*19C>T,NM_031226:c.*19C>T NA NA ncRNA_UTR3 ENSG00000137869 NA NA NA NA NA 15q21.2 NA NA NA NA rs10046 0.41 0.41 0.41 0.362819 0.4881 0.5218 0.3444 0.2118 0.2873 0.5 0.53 0.35 0.19 0.4492 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390565 NA NA 0.52376 0.255237 NA 0.341 NA 3.03894 1348 10 104242886 104242886 G A intronic ACTR1A NA NA NA intronic ENSG00000138107 NA NA NA NA NA 10q24.32 NA NA NA NA rs2296581 0.28 0.28 0.27 0.271366 0.3002 0.256 0.3573 0.1982 0.2955 0.31 0.28 0.33 0.21 0.3282 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.983423 NA NA 0.332791 0.243985 ID=COSN163751;OCCURENCE=1(NS) 0.312 NA 3.038809 1348 3 64527378 64527378 G A intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs1036918 0.8 0.8 0.785 0.803914 0.9612 0.7788 0.6643 0.6437 0.9836 0.96 0.79 0.71 0.62 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207002 NA NA NA NA NA 0.797 NA 3.0388 1348 6 73821239 73821239 T C intronic KCNQ5 NA NA NA intronic ENSG00000185760 NA NA NA NA NA 6q13 NA NA NA NA rs2000205 0.95 0.95 0.95 0.944888 0.9612 0.9534 0.9683 0.888 0.9796 0.96 0.95 0.97 0.91 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94425 NA NA NA NA NA 0.957 NA 3.0388 1348 17 6560977 6560977 C A upstream ALOX15P1 NA NA NA intergenic ENSG00000264468,ENSG00000141485 dist=2149;dist=27055 NA NA NA NA 17p13.1 NA NA NA NA rs1808213 0.57 0.57 0.59 0.602436 0.4612 0.7073 0.5634 0.6626 0.5859 0.45 0.68 0.54 0.66 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.516974 NA NA NA NA NA 0.725 NA 3.0388 1348 7 142197897 142197897 C T intergenic LOC730441,MTRNR2L6 dist=225829;dist=176234 NA NA ncRNA_intronic ENSG00000241657 NA NA NA NA NA 7q34 NA NA NA NA rs17279 0.42 0.42 0.438 0.427117 0.3151 0.5347 0.3631 0.4788 0.407 0.31 0.58 0.35 0.47 0.3401 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630401 NA NA 0.306369 0.433029 NA 0.312 NA 3.038431 1348 19 12385749 12385749 C T intronic ZNF44 NA NA NA intronic ENSG00000197857 NA NA NA NA NA 19p13.2 NA NA NA NA rs2459040 0.39 0.39 0.406 0.390575 0.2942 0.2946 0.2594 0.6899 0.2771 0.3 0.34 0.29 0.68 0.3499 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35151 NA NA 0.317715 0.602186 NA 0.435 NA 3.038185 1348 17 29226630 29226630 T A intronic TEFM NA NA NA UTR3 ENSG00000172171 ENST00000580840:c.*765A>T NA NA NA NA 17q11.2 NA NA NA NA rs28539246 0.42 0.42 0.421 0.479433 0.4026 0.2331 0.4121 0.8101 0.4131 0.37 0.23 0.43 0.72 0.4035 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.772404 NA NA 0.322782 0.664568 NA 0.522 NA 3.0377847 1348 3 37627149 37627149 G A intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA NA NA 3p22.2 NA NA NA NA rs1155742 0.32 0.32 0.308 0.259984 0.3221 0.4891 0.1988 0.1399 0.1656 0.32 0.51 0.23 0.16 0.2865 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600922 NA NA 0.354596 0.171804 NA 0.268 NA 3.036804 1348 9 78820011 78820011 G A intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs7851394 0.98 0.98 0.979 0.965455 0.9632 0.999 0.9769 0.9811 0.9039 0.97 1 0.98 0.97 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590089 NA NA NA NA NA 0.978 NA 3.0368 1348 16 81062171 81062171 C T intronic CENPN NA NA NA ncRNA_intronic ENSG00000260213 NA NA NA Score=489;Name=lod=129 NA 16q23.2 NA NA NA NA rs2602428 0.66 0.66 0.66 0.664936 0.7734 0.5605 0.6542 0.5545 0.818 0.77 0.56 0.65 0.59 0.7301 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.754881 1.754881 NA 0.793036 0.590833 NA 0.717 NA 3.0367973 1348 1 110279821 110279821 C A intronic GSTM3 NA NA NA ncRNA_intronic ENSG00000241720 NA NA NA NA NA 1p13.3 NA NA NA NA rs1537234 0.49 0.49 0.458 0.486821 0.4135 0.8611 0.5216 0.1589 0.5951 0.43 0.85 0.48 0.16 0.4648 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.987876 NA NA 0.418256 0.223786 NA 0.471 NA 3.0367773 1348 15 90169331 90169331 A G intronic TICRR NA NA NA intronic ENSG00000140534 NA NA NA NA NA 15q26.1 NA NA NA NA rs55653159 0.26 0.26 0.248 0.269169 0.331 0.3919 0.2839 0.059 0.3528 0.34 0.34 0.25 0.06 0.3015 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748895 NA NA 0.330891 0.095 NA 0.261 NA 3.036609 1348 4 89711849 89711849 T C intronic FAM13A NA NA NA intronic ENSG00000138640 NA NA NA NA NA 4q22.1 NA NA NA NA rs2290782 0.6 0.6 0.583 0.614417 0.4851 0.7004 0.5519 0.6558 0.6472 0.49 0.71 0.53 0.67 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632975 NA NA 0.478316 0.610549 NA 0.674 NA 3.036584 1348 6 42883911 42883911 G C intronic PTCRA NA NA NA intronic ENSG00000171611 NA NA NA NA NA 6p21.1 NA NA NA NA rs2235831 0.36 0.36 0.398 0.398562 0.3231 0.1379 0.3055 0.7027 0.3998 0.32 0.14 0.31 0.7 0.3302 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421526 NA NA 0.310233 0.631185 NA 0.464 NA 3.036467 1348 1 151341703 151341703 G A intronic SELENBP1 NA NA NA intronic ENSG00000143416 NA NA NA NA NA 1q21.3 NA NA NA NA rs55906289 0.18 0.18 0.189 0.147764 0.3598 NA 0.196 0.0915 0.1237 0.35 NA 0.23 0.1 0.2566 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277549 NA NA 0.347523 0.1401 NA 0.225 NA 3.036077 1348 6 6196141 6196141 G A intronic F13A1 NA NA NA intronic ENSG00000124491 NA NA NA NA NA 6p25.1 NA NA NA NA rs5978 0.22 0.22 0.236 0.263978 0.3111 0.2361 0.2363 0.1029 0.4816 0.31 0.22 0.19 0.09 0.3207 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037607 NA NA 0.332326 0.140717 NA 0.174 NA 3.035874 1348 10 38894500 38894500 T C intergenic LOC399744,ACTR3BP5 dist=153419;dist=95227 NA NA upstream ENSG00000215151 NA NA NA NA NA 10p11.1 NA NA NA NA rs3970150 0.41 0.41 0.335 0.457069 0.4642 0.5258 0.5043 0.5015 0.2853 0.4 0.44 0.42 0.41 NA 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025358 NA NA NA NA NA NA NA 3.0358 1348 16 28896015 28896015 C T intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA rs11642449 0.25 0.25 0.215 0.247404 0.3002 0.126 0.4726 0.2224 0.1922 0.31 0.13 0.37 0.2 0.3258 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913138 NA NA 0.338256 0.25888 NA 0.145 NA 3.035744 1348 1 197008597 197008597 A C intronic F13B NA NA NA intronic ENSG00000143278 NA NA NA NA NA 1q31.3 NA NA NA NA rs5990 0.54 0.54 0.504 0.52496 0.501 0.8194 0.6455 0.1921 0.6104 0.5 0.81 0.61 0.22 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010601 NA NA 0.463476 0.226156 NA 0.486 NA 3.035524 1349 1 224482216 224482216 T C intronic NVL NA NA NA intronic ENSG00000143748 NA NA NA NA NA 1q42.11 NA NA NA NA rs2404783 0.85 0.85 0.831 0.821286 0.9652 0.8899 0.9323 0.531 0.9162 0.97 0.9 0.93 0.56 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.136916 3.136916 NA NA NA NA 0.826 NA 3.0348 1349 7 64437406 64437406 A G UTR3 ZNF117 NM_015852:c.*1091T>C NA NA downstream ENSG00000152926 NA NA NA NA NA 7q11.21 NA NA NA NA rs4607487 0.88 0.88 0.875 0.881789 0.9652 0.873 0.9395 0.7284 0.9714 0.96 0.88 0.94 0.72 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.936708 1.936708 0.43 NA NA NA 0.891 NA 3.0348 1349 8 90970935 90970935 G A intronic NBN NA NA NA intronic ENSG00000104320 NA NA NA NA NA 8q21.3 NA NA NA NA rs2234744 0.33 0.33 0.292 0.353035 0.3072 0.4663 0.3761 0.2156 0.453 0.31 0.46 0.34 0.2 0.3446 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02164 NA NA 0.313488 0.227871 NA 0.333 NA 3.034712 1349 12 117685138 117685138 T C intronic NOS1 NA NA NA intronic ENSG00000089250 NA NA NA NA NA 12q24.22 NA NA NA NA rs2291908 0.37 0.37 0.327 0.353035 0.3161 0.5109 0.5259 0.1982 0.3149 0.33 0.48 0.5 0.19 0.3465 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362978 NA NA 0.302895 0.174807 NA 0.37 NA 3.034505 1349 3 58194051 58194051 C A intronic DNASE1L3 NA NA NA intronic ENSG00000163687 NA NA NA NA NA 3p14.3 NA NA NA NA rs3732631 0.3 0.3 0.301 0.270767 0.3161 0.3542 0.3501 0.146 0.2505 0.33 0.36 0.33 0.16 0.3148 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652115 NA NA 0.334651 0.176804 ID=COSN166909;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.399 NA 3.034449 1349 1 157740189 157740189 A G intronic FCRL2 NA NA NA intronic ENSG00000132704 NA NA NA NA NA 1q23.1 NA NA NA NA rs57139984 NA NA NA 0.558906 0.4821 0.4772 0.4524 0.7905 0.4847 NA NA NA NA 0.4838 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603275 NA NA NA NA NA NA NA 3.0341 1349 16 65015908 65015908 C G intronic CDH11 NA NA NA intronic ENSG00000140937 NA NA NA NA NA 16q21 NA NA NA NA rs35214 0.23 0.23 0.199 0.19389 0.33 0.2044 0.2061 0.0719 0.1994 0.32 0.23 0.25 0.07 0.28 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288231 NA NA 0.356163 0.110531 NA 0.174 NA 3.033837 1349 1 200569392 200569392 C A intronic KIF14 NA NA NA intronic ENSG00000118193 NA NA NA NA NA 1q32.1 NA NA NA NA rs2809357 0.92 0.92 0.909 0.91234 0.9662 0.871 0.8963 0.913 0.91 0.97 0.85 0.9 0.91 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509587 NA NA NA NA NA 0.928 NA 3.0338 1349 12 121431300 121431300 C T intronic HNF1A NA NA NA intronic ENSG00000135100 NA NA NA NA NA 12q24.31 NA NA NA NA rs1169301 0.33 0.33 0.304 0.31869 0.3161 0.4732 0.3501 0.118 0.411 0.31 0.52 0.36 0.13 0.3384 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193041 NA NA 0.311744 0.127326 NA 0.246 NA 3.033756 1349 20 3846843 3846843 C T UTR3 MAVS NM_001206491:c.*49C>T,NM_020746:c.*49C>T NA NA UTR3 ENSG00000088888 ENST00000416600:c.*49C>T,ENST00000428216:c.*49C>T NA NA NA NA 20p13 NA NA NA NA rs3746660 0.32 0.32 0.278 0.298323 0.4433 0.2321 0.415 0.1248 0.3691 0.46 0.23 0.4 0.15 0.4249 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01632 NA NA 0.43189 0.178076 NA 0.254 NA 3.0332434 1349 18 14475665 14475665 A C intergenic CYP4F35P,CXADRP3 dist=133142;dist=2289 NA NA intergenic ENSG00000266605,ENSG00000265766 dist=24783;dist=2289 NA NA NA NA 18p11.21 NA NA NA NA rs9957619 0.4 0.4 0.401 0.445687 0.3002 0.5417 0.3746 0.5492 0.407 0.27 0.51 0.36 0.51 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512258 NA NA NA NA NA 0.442 NA 3.0331334 1349 8 120818483 120818483 G A intronic TAF2 NA NA NA intronic ENSG00000064313 NA NA NA NA NA 8q24.12 NA NA NA NA rs4871634 0.32 0.32 0.271 0.25 0.3459 0.3889 0.4813 0.0484 0.1166 0.35 0.4 0.46 0.07 0.3013 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066353 NA NA 0.320116 0.097594 ID=COSN168407;OCCURENCE=1(large_intestine) 0.261 NA 3.032684 1349 7 98647139 98647139 C T intronic SMURF1 NA NA NA intronic ENSG00000198742 NA NA NA NA NA 7q22.1 NA NA NA NA rs219826 0.31 0.31 0.313 0.34405 0.3131 0.4405 0.232 0.2428 0.4928 0.32 0.4 0.26 0.24 0.3313 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656409 NA NA 0.323023 0.255107 ID=COSN168155;OCCURENCE=2(large_intestine) 0.355 NA 3.032577 1349 1 201115822 201115822 A G intronic TMEM9 NA NA NA intronic ENSG00000116857 NA NA NA NA NA 1q32.1 NA NA NA NA rs3752978 0.37 0.37 0.369 0.357228 0.3201 0.3948 0.2853 0.4244 0.317 0.31 0.4 0.32 0.44 0.3247 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067538 NA NA 0.323256 0.413073 NA 0.362 NA 3.031944 1349 5 148627503 148627503 C T intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs2304609 0.36 0.36 0.336 0.352436 0.4036 0.5734 0.3516 0.1067 0.4049 0.4 0.53 0.33 0.14 0.4279 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100932 NA NA 0.470116 0.170903 NA 0.341 NA 3.0317173 1349 19 6732615 6732615 T C intronic GPR108 NA NA NA intronic ENSG00000125734 NA NA NA NA NA 19p13.3 NA NA NA NA rs2047139 0.51 0.51 0.477 0.483826 0.4682 0.7639 0.5346 0.2678 0.4673 0.45 0.75 0.53 0.29 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.648843 NA NA 0.500314 0.308526 NA 0.42 NA 3.031486 1349 19 49692373 49692373 C G intronic TRPM4 NA NA NA intronic ENSG00000130529 NA NA NA NA NA 19q13.33 NA NA NA NA rs1175791 0.32 0.32 0.295 0.34365 0.325 0.247 0.2507 0.4539 0.3793 0.31 0.22 0.31 0.44 0.3222 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392966 NA NA 0.321977 0.433954 NA 0.333 NA 3.030823 1349 5 68417755 68417755 A G intronic SLC30A5 NA NA NA ncRNA_intronic ENSG00000248664 NA NA NA NA NA 5q13.2 NA NA NA NA rs164577 0.43 0.43 0.404 0.42472 0.4254 0.5397 0.4236 0.3268 0.4387 0.42 0.56 0.42 0.33 0.4452 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661419 NA NA 0.432209 0.334544 NA 0.478 NA 3.0305243 1349 6 29785996 29785996 C A intergenic LOC554223,HLA-G dist=20412;dist=8760 NA NA intergenic ENSG00000237042,ENSG00000204632 dist=5523;dist=8748 NA NA NA NA 6p22.1 NA NA NA NA rs1633067 0.29 0.29 0.289 0.302915 0.3032 0.12 0.3458 0.3752 0.363 0.3 0.16 0.32 0.4 NA 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.258062 NA NA NA NA NA 0.312 NA 3.0301334 1349 2 152289767 152289767 G A intronic RIF1 NA NA NA intronic ENSG00000080345 NA NA NA NA NA 2q23.3 NA NA NA NA rs72860233 0.24 0.24 0.209 0.197284 0.3231 0.25 0.2752 0.0318 0.182 0.32 0.28 0.25 0.04 0.296 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456576 NA NA 0.35093 0.079891 NA 0.188 NA 3.02997 1349 22 17586583 17586583 C G intronic IL17RA NA NA NA intronic ENSG00000177663 NA NA NA NA NA 22q11.1 NA NA NA NA rs2241047 0.56 0.56 0.547 0.55611 0.4732 0.7837 0.4942 0.4584 0.5828 0.48 0.79 0.46 0.49 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047147 NA NA 0.496857 0.476879 NA 0.355 NA 3.029943 1349 19 51359453 51359453 T C intronic KLK3 NA NA NA intronic ENSG00000142515 NA NA NA NA NA 19q13.33 NA NA NA NA rs2271095 0.32 0.32 0.281 0.283746 0.326 0.4196 0.4078 0.1626 0.1759 0.34 0.41 0.4 0.14 0.3275 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244599 NA NA 0.316628 0.192238 NA 0.297 NA 3.029872 1349 15 45400164 45400164 T C intronic DUOX2 NA NA NA intronic ENSG00000140279 NA NA NA NA NA 15q21.1 NA NA NA NA rs269861 0.84 0.84 0.807 0.802516 0.9702 0.9931 0.9409 0.3177 0.9908 0.98 1 0.94 0.36 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378894 NA NA NA NA NA 0.804 NA 3.0298 1349 9 90387296 90387296 T G upstream CTSL3P NA NA NA upstream ENSG00000188029 NA NA NA NA NA 9q21.33 NA NA NA NA rs7037401 0.76 0.76 0.762 0.741613 0.6372 0.8313 0.7738 0.795 0.6616 0.66 0.83 0.76 0.83 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207568 NA NA NA NA NA 0.812 NA 3.0294666 1349 17 38122708 38122708 T C intronic GSDMA NA NA NA intronic ENSG00000167914 NA NA NA NA NA 17q21.1 NA NA NA NA rs9914973 0.32 0.32 0.337 0.289537 0.3241 0.3829 0.2594 0.2421 0.2434 0.33 0.4 0.27 0.26 0.3197 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676 NA NA 0.327029 0.239293 NA 0.362 NA 3.029171 1349 2 152348842 152348842 T A intronic NEB NA NA NA intronic ENSG00000080345,ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs2288193 0.24 0.24 0.201 0.201677 0.3231 0.252 0.2752 0.0461 0.183 0.32 0.28 0.25 0.04 0.2993 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354974 NA NA 0.348533 0.08543 NA 0.196 NA 3.029067 1349 9 134342938 134342938 T C intronic PRRC2B NA NA NA intronic ENSG00000130723 NA NA NA NA NA 9q34.13 NA NA NA NA rs10793870 0.17 0.17 0.166 0.14397 0.2863 0.1101 0.1484 0.0356 0.1759 0.29 0.1 0.19 0.05 0.3571 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186189 NA NA 0.327752 0.079177 NA 0.181 NA 3.028848 1349 19 54962467 54962467 G A UTR5 LENG8 NM_052925:c.-55G>A NA NA UTR5 ENSG00000167615 ENST00000326764:c.-55G>A,ENST00000439657:c.-55G>A,ENST00000376514:c.-55G>A,ENST00000376526:c.-55G>A,ENST00000443957:c.-55G>A,ENST00000431846:c.-55G>A NA NA NA NA 19q13.42 NA NA NA NA rs1035451 0.62 0.62 0.644 0.651358 0.662 0.3512 0.5403 0.8926 0.7025 0.64 0.34 0.62 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.650022 2.650022 NA 0.642678 0.860549 NA 0.522 NA 3.0286554 1349 2 27015969 27015969 G A intronic CENPA NA NA NA intronic ENSG00000115163 NA NA NA NA NA 2p23.3 NA NA NA NA rs2289018 0.26 0.26 0.257 0.240815 0.334 0.2937 0.2378 0.115 0.2628 0.33 0.28 0.28 0.12 0.2936 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545505 NA NA 0.344186 0.157739 NA 0.268 NA 3.028214 1349 19 603513 603513 C T intronic HCN2 NA NA NA intronic ENSG00000099822 NA NA NA NA NA 19p13.3 NA NA NA NA rs4919815 0.33 0.33 0.328 0.29353 0.338 0.3661 0.2723 0.295 0.1861 0.32 0.38 0.26 0.32 0.3105 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345695 NA NA 0.323584 0.281279 NA 0.225 NA 3.027916 1349 19 50492860 50492860 C G intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs10424282 0.49 0.49 0.512 0.509385 0.2773 0.746 0.4452 0.5696 0.4683 0.26 0.76 0.43 0.59 0.3907 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015245 NA NA 0.304302 0.519065 NA 0.435 NA 3.027698 1349 9 14775853 14775853 A G exonic FREM1 NA synonymous SNV FREM1:NM_001177704:exon2:c.T399C:p.D133D,FREM1:NM_144966:exon26:c.T4791C:p.D1597D exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380894:exon2:c.T399C:p.D133D,ENSG00000164946:ENST00000380880:exon25:c.T4791C:p.D1597D,ENSG00000164946:ENST00000380881:exon26:c.T4794C:p.D1598D,ENSG00000164946:ENST00000422223:exon26:c.T4791C:p.D1597D NA NA 9p22.3 NA NA NA NA rs1032474 0.86 0.86 0.838 0.847244 0.8847 0.8502 0.8732 0.7897 0.865 0.89 0.84 0.86 0.83 0.8678 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943155 NA NA 0.886627 0.818863 NA 0.877 NA 3.0275396 1349 2 74448655 74448655 T C intronic SLC4A5 NA NA NA intronic ENSG00000188687,ENSG00000264324 NA NA NA NA NA 2p13.1 NA NA NA NA rs7587117 0.23 0.23 0.202 0.186502 0.3698 0.131 0.1844 0.1135 0.1554 0.37 0.15 0.21 0.13 0.2741 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087343 NA NA 0.328721 0.151838 NA 0.312 NA 3.027379 1349 1 228444318 228444318 T G intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 Score=903;Name=V$RORA1_01 NA NA NA rs7532144 0.63 0.63 0.586 0.617013 0.6402 0.5992 0.6513 0.7133 0.4571 0.63 0.59 0.64 0.65 0.6507 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026675 NA NA 0.682109 0.733412 ID=COSN163463;OCCURENCE=1(breast) 0.616 NA 3.026991 1349 15 45457127 45457127 C T UTR3 DUOX1 NM_017434:c.*28C>T,NM_175940:c.*28C>T NA NA ncRNA_UTR3 ENSG00000137857 NA NA NA NA NA 15q21.1 NA NA NA NA rs7169193 0.69 0.69 0.693 0.712859 0.4662 0.9246 0.6758 0.8147 0.637 0.45 0.97 0.63 0.77 0.5684 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002582 NA NA 0.43846 0.74454 NA 0.63 NA 3.02694 1349 14 24520218 24520218 T C UTR3 DHRS4L1 NM_001277864:c.*41T>C NA NA ncRNA_exonic ENSG00000225766 NA NA NA NA NA 14q11.2 NA NA NA NA rs7152726 0.31 0.31 0.24 0.279752 0.5318 0.0397 0.5519 0.0847 0.3384 0.52 0.05 0.55 0.11 0.4403 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.968862 NA NA 0.501163 0.157811 NA 0.275 NA 3.026737 1349 17 910401 910401 G A intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA NA NA NA rs2586305 0.37 0.37 0.257 0.337859 0.4742 0.2192 0.4625 0.2716 0.3211 0.46 0.24 0.5 0.29 0.0014 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.042475 2.042475 NA 0.49779 0.307989 NA NA NA 3.02661 1349 8 90958530 90958530 T C intronic NBN NA NA NA intronic ENSG00000104320 NA NA NA NA NA 8q21.3 NA NA NA NA rs2308962 0.35 0.35 0.321 0.378994 0.3062 0.4673 0.3804 0.3124 0.4519 0.31 0.46 0.34 0.29 0.3529 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.194511 NA NA 0.314375 0.310713 NA 0.37 NA 3.026525 1349 1 205239031 205239031 C G intronic TMCC2 NA NA NA intronic ENSG00000133069 NA NA NA NA NA 1q32.1 NA NA NA NA rs1668870 0.18 0.18 0.147 0.126398 0.3539 0.0377 0.183 0.031 0.0726 0.36 0.03 0.23 0.03 0.2712 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028916 NA NA 0.34852 0.074932 NA 0.326 NA 3.02638 1349 9 73457861 73457861 A G intronic TRPM3 NA NA NA UTR3 ENSG00000083067 ENST00000377097:c.*28T>C NA NA NA NA 9q21.12 NA NA NA NA rs1337030 0.49 0.49 0.456 0.520567 0.5835 0.2728 0.5591 0.5885 0.592 0.58 0.24 0.59 0.57 0.5568 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234591 NA NA NA NA NA 0.565 NA 3.0263667 1349 11 107904646 107904646 C T intronic CUL5 NA NA NA intronic ENSG00000166266 NA NA NA NA NA 11q22.3 Score=726;Name=V$PAX4_04 NA NA NA rs10890800 0.67 0.67 0.644 0.658746 0.6511 0.9018 0.7378 0.3691 0.7515 0.65 0.91 0.7 0.4 0.667 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855432 NA NA 0.65569 0.396136 NA 0.601 NA 3.02621 1349 19 15882796 15882796 T A ncRNA_intronic CYP4F24P NA NA NA ncRNA_intronic ENSG00000267594 NA NA NA NA NA 19p13.12 NA NA NA NA rs2285889 0.86 0.86 0.83 0.859425 0.8141 0.9425 0.8573 0.8434 0.8436 0.82 0.94 0.86 0.85 0.8264 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31359 NA NA NA NA NA 0.783 NA 3.0261666 1349 12 41330531 41330531 T C intronic CNTN1 NA NA NA intronic ENSG00000018236 NA NA NA NA NA 12q12 NA NA NA NA rs2289522 0.49 0.49 0.489 0.491813 0.508 0.3383 0.5403 0.6203 0.4254 0.5 0.35 0.54 0.61 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242716 NA NA 0.465846 0.611301 NA 0.58 NA 3.026154 1349 20 31814348 31814348 G A intronic BPIFA3 NA NA NA intronic ENSG00000131059 NA NA NA NA NA 20q11.21 NA NA NA NA rs1570033 0.56 0.56 NA 0.567492 0.4831 0.4246 0.5403 0.9115 0.3558 0.47 0.41 0.53 0.89 0.4913 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386227 NA NA NA NA NA 0.536 NA 3.0256 1349 5 180056044 180056044 G A intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs13359473 0.21 0.21 0.206 0.21246 0.341 0.0536 0.2291 0.1384 0.3323 0.34 0.07 0.29 0.12 0.2996 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.381801 NA NA 0.334071 0.16099 NA 0.268 NA 3.025329 1349 8 90955624 90955624 T A intronic NBN NA NA NA intronic ENSG00000104320 NA NA NA NA NA 8q21.3 NA NA NA NA rs3736639 0.35 0.35 0.313 0.379193 0.3062 0.4663 0.3804 0.3132 0.453 0.31 0.45 0.34 0.29 0.3535 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736074 NA NA 0.315116 0.311621 NA 0.362 NA 3.025184 1350 20 61524133 61524133 C T intronic DIDO1 NA NA NA intronic ENSG00000101191 NA NA NA NA NA 20q13.33 NA NA NA NA rs2294998 0.36 0.36 0.37 0.369609 0.2982 0.3115 0.2723 0.5772 0.2914 0.3 0.33 0.3 0.55 0.3387 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655706 NA NA 0.33814 0.575352 NA 0.42 NA 3.02496 1350 15 90177157 90177157 C T intronic KIF7 NA NA NA intronic ENSG00000166813 NA NA NA NA NA 15q26.1 NA NA NA NA rs894156 0.27 0.27 0.262 0.275359 0.331 0.3948 0.2867 0.084 0.3456 0.34 0.35 0.25 0.08 0.3109 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061835 NA NA 0.333217 0.109773 NA 0.261 NA 3.024883 1350 7 2290433 2290433 C T intronic NUDT1 NA NA NA intronic ENSG00000106268 NA NA NA NA NA 7p22.3 NA NA NA NA rs10230928 0.29 0.29 0.305 0.301518 0.329 0.2044 0.2248 0.4191 0.2689 0.35 0.2 0.22 0.35 0.3146 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937892 NA NA 0.331628 0.38493 NA 0.217 NA 3.024772 1350 1 233398670 233398670 C A intronic PCNXL2 NA NA NA intronic ENSG00000135749 NA NA NA NA NA 1q42.2 NA NA NA NA rs12132556 0.25 0.25 0.234 0.277157 0.3429 0.1647 0.2291 0.2057 0.456 0.34 0.16 0.23 0.21 0.3203 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314369 NA NA 0.312377 0.2148 NA 0.188 NA 3.024423 1350 1 20944909 20944909 G A intronic CDA NA NA NA intronic ENSG00000158825 NA NA NA NA NA 1p36.12 NA NA NA NA rs61781969 0.32 0.32 0.308 0.311502 0.3231 0.244 0.317 0.3805 0.272 0.33 0.25 0.31 0.37 0.3378 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847893 NA NA 0.31503 0.396732 ID=COSN162993;OCCURENCE=1(NS) 0.319 NA 3.02407 1350 12 4708150 4708150 T A intronic DYRK4 NA NA NA intronic ENSG00000010219 NA NA NA NA NA 12p13.32 NA NA NA NA rs3741926 0.32 0.32 0.293 0.305312 0.337 0.3155 0.3184 0.3139 0.2413 0.35 0.31 0.31 0.32 0.32 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050382 NA NA 0.31907 0.315933 NA 0.413 NA 3.02393 1350 16 56667165 56667165 A G intronic MT1M NA NA NA intronic ENSG00000205364 NA NA NA NA NA 16q12.2 NA NA NA NA rs1827209 0.87 0.87 0.843 0.871406 0.9761 0.8948 0.9452 0.6543 0.9806 0.97 0.9 0.94 0.64 NA 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521733 NA NA NA NA NA 0.87 NA 3.0239 1350 12 51319346 51319346 A G intronic METTL7A NA NA NA intronic ENSG00000185432 NA NA NA NA NA 12q13.12 NA NA Name=10 NA rs2359005 0.66 0.66 0.642 0.677915 0.6481 0.6696 0.5879 0.7368 0.7014 0.62 0.66 0.61 0.74 0.6653 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623003 NA NA 0.663253 0.726818 NA 0.58 NA 3.023347 1350 9 127495508 127495508 C T intronic NR6A1 NA NA NA intronic ENSG00000148200 NA NA NA NA NA 9q33.3 NA NA NA NA rs10760374 0.49 0.49 0.474 0.495407 0.4682 0.3899 0.6614 0.4818 0.5327 0.48 0.42 0.62 0.5 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.374593 2.374593 NA 0.508491 0.46604 NA 0.486 NA 3.023309 1350 1 155294772 155294772 A G intronic RUSC1 NA NA NA intronic ENSG00000160753 NA NA NA NA NA 1q22 NA Name=ZBTB7A_(SC-34508),GATA-1,ETS1 Name=84 NA rs4971075 0.93 0.93 0.915 0.915335 1 0.999 0.9784 0.7057 0.9806 1 1 0.97 0.73 0.9774 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928893 NA NA 0.999302 0.797776 NA 0.942 NA 3.023298 1350 5 148610276 148610276 C A intronic ABLIM3 NA NA NA ncRNA_intronic ENSG00000248647,ENSG00000253406 NA NA NA NA NA 5q32 NA NA NA NA rs2918265 0.44 0.44 0.418 0.442891 0.4046 0.5942 0.3977 0.385 0.4366 0.39 0.55 0.38 0.41 0.4387 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699775 NA NA 0.46686 0.40286 NA 0.457 NA 3.0231733 1350 6 44107200 44107200 G A intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs11967633 0.24 0.24 0.209 0.219848 0.327 0.0437 0.3112 0.2625 0.1687 0.33 0.05 0.33 0.27 0.2945 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091066 NA NA 0.355349 0.270767 NA 0.355 NA 3.023151 1350 17 10317831 10317831 A G intronic MYH8 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791406 0.5 0.5 0.464 0.525759 0.3698 0.876 0.5159 0.2761 0.6697 0.37 0.88 0.51 0.26 0.5289 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.224441 NA NA 0.411765 0.298073 NA 0.558 NA 3.0228683 1350 1 193094375 193094375 T C intronic CDC73 NA NA NA intronic ENSG00000134371 NA NA NA NA NA 1q31.2 NA NA NA NA rs4466634 0.56 0.56 NA 0.590256 0.6332 0.4494 0.6268 0.5106 0.773 0.63 0.45 0.63 0.53 0.6567 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006973 NA NA 0.687326 0.529505 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=Parathyroid_carcinoma;CLNREVSTAT=single;CLNACC=RCV000020881.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK3789:C0687150:608266:ORPHA143:255037004 3.022774 1350 16 2903845 2903845 G T intronic PRSS22 NA NA NA intronic ENSG00000005001 NA NA NA NA NA 16p13.3 NA NA NA NA rs2074294 0.39 0.39 0.377 0.411941 0.2972 0.503 0.2738 0.4614 0.4673 0.32 0.49 0.27 0.48 0.3504 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082759 NA NA 0.329728 0.418562 NA 0.319 NA 3.022672 1350 11 113209428 113209428 C G intronic TTC12 NA NA NA intronic ENSG00000149292 NA NA NA NA NA 11q23.2 NA NA NA NA rs10891536 0.26 0.26 0.236 0.225639 0.4831 0.0536 0.2954 0.0734 0.2945 0.48 0.05 0.36 0.08 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0219 NA NA 0.494657 0.158237 NA 0.174 NA 3.022243 1350 7 73107003 73107003 C A intronic WBSCR22 NA NA NA intronic ENSG00000071462 NA NA NA NA NA 7q11.23 NA NA NA NA rs2293490 0.23 0.23 0.211 0.232228 0.336 0.1756 0.3473 0.0325 0.3722 0.33 0.18 0.36 0.02 0.3022 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236387 NA NA 0.339651 0.081934 NA 0.196 NA 3.022149 1350 19 46204938 46204938 C T intronic QPCTL NA NA NA intronic ENSG00000011478 NA NA NA NA NA 19q13.32 NA NA NA NA rs4803847 0.99 0.99 0.991 0.993011 0.9781 1 0.987 0.9992 0.9969 0.98 1 0.98 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254944 NA NA NA NA NA 0.986 NA 3.0219 1350 10 29818604 29818604 A C intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA NA NA 10p11.23 NA NA NA NA rs913035 0.27 0.27 0.277 0.272165 0.3419 0.0823 0.3184 0.3502 0.2577 0.34 0.1 0.33 0.33 0.3037 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.211849 NA NA 0.332907 0.363595 NA 0.355 NA 3.021493 1350 9 139642961 139642961 G A ncRNA_exonic LOC100128593 NA NA NA UTR5 ENSG00000267206 ENST00000341206:c.-26C>T NA NA NA NA 9q34.3 NA NA NA NA rs2811728 0.48 0.48 0.473 0.445487 0.495 0.7103 0.4135 0.2201 0.4489 0.48 0.73 0.44 0.24 0.5133 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326335 NA NA 0.470547 0.271546 NA 0.341 NA 3.021153 1350 9 422157 422157 T C intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA Name=13 NA rs10217719 0.67 0.67 0.647 0.624401 0.661 0.9504 0.647 0.3207 0.6452 0.67 0.96 0.67 0.33 0.6562 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.248431 2.248431 NA 0.661744 0.37744 NA 0.565 NA 3.021056 1350 4 151161490 151161490 T C intronic DCLK2 NA NA NA intronic ENSG00000170390 NA NA NA NA NA 4q31.3 NA NA Name=27 NA rs6838238 0.95 0.95 0.95 0.945088 0.9891 0.9613 0.9841 0.8593 0.9714 0.99 0.95 0.99 0.88 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166588 NA NA 0.989943 0.863439 NA 0.949 NA 3.020957 1350 7 73108310 73108310 T C intronic WBSCR22 NA NA NA intronic ENSG00000071462 NA NA NA NA NA 7q11.23 NA NA NA NA rs2293487 0.23 0.23 0.193 0.232428 0.337 0.1756 0.3473 0.0325 0.3722 0.33 0.18 0.36 0.02 0.3024 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.595487 2.595487 NA 0.339651 0.081934 NA 0.196 NA 3.020949 1350 14 88729931 88729931 G T intronic KCNK10 NA NA NA intronic ENSG00000100433 NA NA NA Score=284;Name=lod=19 NA 14q31.3 NA NA NA NA rs761971 0.67 0.67 0.655 0.659744 0.6571 0.6855 0.7853 0.6165 0.6053 0.65 0.71 0.75 0.6 0.6745 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374054 1.374054 NA 0.647494 0.622624 NA 0.58 NA 3.020906 1350 15 31192606 31192606 C G intergenic HERC2P10,FAN1 dist=72620;dist=3449 NA NA downstream ENSG00000261628 NA NA NA NA NA 15q13.2 NA NA NA NA rs28721380 0.54 0.54 0.515 0.501398 0.4791 0.8264 0.5072 0.2315 0.5501 0.5 0.86 0.5 0.24 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2161 NA NA NA NA NA 0.587 NA 3.0209 1350 3 46713102 46713102 C T intronic ALS2CL NA NA NA intronic ENSG00000178038 NA NA NA NA NA 3p21.31 NA NA NA NA rs6776565 0.3 0.3 0.27 0.308107 0.327 0.3571 0.3314 0.1566 0.4264 0.33 0.35 0.31 0.18 0.3333 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123676 NA NA 0.319186 0.205629 NA 0.268 NA 3.020514 1350 1 230386341 230386341 T A intronic GALNT2 NA NA NA intronic ENSG00000143641 NA NA NA NA NA 1q42.13 NA NA NA NA rs2273966 0.31 0.31 0.303 0.283347 0.327 0.129 0.2651 0.382 0.2771 0.33 0.17 0.34 0.42 0.3119 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264459 NA NA 0.340698 0.354063 NA 0.341 NA 3.020402 1350 8 23302164 23302164 A G intronic ENTPD4 NA NA NA intronic ENSG00000197217 NA NA NA NA NA 8p21.2 NA NA NA NA rs2272640 0.42 0.42 0.433 0.448682 0.3141 0.4365 0.2896 0.674 0.408 0.32 0.44 0.3 0.65 0.3523 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.322309 NA NA 0.313256 0.616205 NA 0.529 NA 3.020344 1350 2 49510173 49510173 A C intergenic FSHR,NRXN1 dist=128507;dist=635470 NA NA intergenic ENSG00000206915,ENSG00000234253 dist=49135;dist=595588 NA NA Score=395;Name=lod=54 NA 2p16.3 NA NA NA NA rs7578654 0.45 0.45 0.467 0.451078 0.4543 0.4107 0.4251 0.5098 0.4284 0.46 0.42 0.41 0.52 0.4275 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688838 NA NA 0.43119 0.474886 NA 0.522 NA 3.0203434 1350 12 51585599 51585599 T G intronic POU6F1 NA NA NA intronic ENSG00000184271 NA NA NA NA NA 12q13.13 NA NA NA NA rs10735831 0.39 0.39 0.38 0.398163 0.3181 0.2609 0.3732 0.6188 0.3415 0.32 0.28 0.41 0.63 0.3441 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435709 NA NA 0.31767 0.573097 NA 0.072 NA 3.02013 1350 1 171548617 171548617 G A intronic PRRC2C NA NA NA intronic ENSG00000117523 NA NA NA NA NA 1q24.3 NA NA NA NA rs3817772 0.37 0.37 0.362 0.291134 0.3131 0.5933 0.3228 0.1422 0.136 0.31 0.61 0.35 0.19 0.319 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.553683 2.553683 NA 0.348256 0.186337 NA 0.326 NA 3.019644 1350 19 39991237 39991237 C G intronic DLL3 NA NA NA intronic ENSG00000090932 NA NA NA NA NA 19q13.2 NA NA NA NA rs2304223 0.23 0.23 0.197 0.24381 0.3429 0.1468 0.2608 0.1399 0.3701 0.34 0.11 0.28 0.15 0.3045 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.815038 2.815038 NA 0.333023 0.184748 NA 0.188 NA 3.019577 1350 19 18311111 18311111 A G intronic RAB3A NA NA NA intronic ENSG00000105649 NA NA NA NA NA 19p13.11 NA NA NA NA rs3803919 0.25 0.25 NA 0.215056 0.3668 0.0913 0.3213 0.1876 0.1483 0.39 0.1 0.31 0.15 0.2951 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452778 NA NA 0.31907 0.160836 NA 0.145 NA 3.01903 1350 3 184766249 184766249 T C intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA NA NA NA rs6779564 0.41 0.41 NA 0.551318 0.4404 0.6657 0.4914 0.5454 0.5982 0.34 0.54 0.43 0.35 0.4757 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184641 NA NA 0.064922 0.090437 NA NA NA 3.018978 1350 2 152043161 152043161 C T intergenic RND3,RBM43 dist=698952;dist=61567 NA NA upstream;downstream ENSG00000236885;ENSG00000213201 NA NA NA NA NA 2q23.3 NA NA NA NA rs34276187 0.37 0.37 0.33 0.330871 0.4811 0.4067 0.5144 0.0726 0.317 0.49 0.39 0.52 0.07 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823596 NA NA NA NA NA 0.362 NA 3.0189 1350 7 152446055 152446055 C T intergenic XRCC2,ACTR3B dist=72805;dist=10779 NA NA upstream ENSG00000214003 NA NA NA NA NA 7q36.1 NA NA NA NA rs7793141 0.34 0.34 0.341 0.319888 0.4811 0.1022 0.255 0.4266 0.2802 0.46 0.12 0.29 0.42 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890795 NA NA NA NA NA 0.326 NA 3.0189 1350 12 51585335 51585335 G A intronic POU6F1 NA NA NA intronic ENSG00000184271 NA NA NA NA NA 12q13.13 NA NA NA NA rs10783419 0.35 0.35 0.337 0.350439 0.3181 0.2569 0.3602 0.4478 0.3415 0.32 0.27 0.39 0.47 0.3313 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057859 NA NA 0.331744 0.423513 NA 0.304 NA 3.018856 1350 11 9746201 9746201 G A intronic SWAP70 NA NA NA intronic ENSG00000133789 NA NA NA NA NA 11p15.4 NA NA NA NA rs1695613 0.27 0.27 0.268 0.258986 0.3221 0.1726 0.183 0.3313 0.2393 0.33 0.19 0.22 0.31 0.3116 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.346446 1.346446 NA 0.347543 0.332803 NA 0.377 NA 3.018757 1350 17 10317842 10317842 A G intronic MYH8 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791407 0.5 0.5 0.479 0.525759 0.3698 0.876 0.5159 0.2761 0.6697 0.37 0.88 0.51 0.26 0.5307 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.710542 NA NA 0.414232 0.300322 NA 0.558 NA 3.0186013 1350 17 75800690 75800690 G A intergenic LOC100507351,FLJ45079 dist=239587;dist=74393 NA NA intergenic ENSG00000267790,ENSG00000204283 dist=76049;dist=74419 NA NA NA NA 17q25.3 NA NA NA NA rs72900461 0.22 0.22 0.203 0.207867 0.3151 0.1647 0.2925 0.1422 0.1708 0.3 0.15 0.28 0.14 NA 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127657 NA NA NA NA NA 0.326 NA 3.0182334 1350 19 9060605 9060605 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C26841T:p.S8947S exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C26841T:p.S8947S NA NA 19p13.2 NA NA NA NA rs2194168 0.86 0.86 0.861 0.856829 0.8767 0.8522 0.9006 0.8253 0.8528 0.88 0.88 0.89 0.79 0.8725 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422128 NA NA 0.899284 0.849704 NA 0.899 NA 3.0181826 1350 12 125437142 125437142 C T intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs6488959 0.23 0.23 0.191 0.271366 0.3499 0.2262 0.3357 0.0567 0.4816 0.33 0.21 0.3 0.04 0.3162 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98111 NA NA 0.315814 0.097367 NA 0.181 NA 3.018086 1350 8 59511756 59511756 C T intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs10111180 0.34 0.34 0.334 0.334065 0.3559 0.5476 0.2248 0.1755 0.3834 0.33 0.51 0.27 0.21 0.3147 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622733 NA NA 0.311395 0.194507 NA 0.275 NA 3.018005 1350 7 27064596 27064596 T C intergenic SKAP2,HOXA1 dist=160255;dist=68018 NA NA downstream ENSG00000214869 NA NA NA NA NA 7p15.2 NA NA NA NA rs2428430 0.53 0.53 0.527 0.550519 0.4821 0.4444 0.4251 0.857 0.4049 0.47 0.42 0.41 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945308 NA NA NA NA NA 0.616 NA 3.0179 1350 11 122490000 122490000 T C intergenic MIR100HG,UBASH3B dist=416230;dist=36398 NA NA downstream ENSG00000254935 NA NA NA NA NA 11q24.1 NA NA NA NA rs4489754 0.51 0.51 0.486 0.509984 0.4821 0.629 0.4856 0.4818 0.4714 0.46 0.64 0.46 0.49 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210286 NA NA NA NA NA 0.449 NA 3.0179 1350 22 22842206 22842206 T C exonic ZNF280B NA synonymous SNV ZNF280B:NM_080764:exon4:c.A1518G:p.S506S exonic ENSG00000198477 NA synonymous SNV ENSG00000198477:ENST00000360412:exon4:c.A1518G:p.S506S,ENSG00000198477:ENST00000406426:exon4:c.A1518G:p.S506S NA NA 22q11.22 NA NA NA NA rs11109 0.85 0.85 0.843 0.79972 0.9076 0.7698 0.8991 0.7708 0.6881 0.91 0.78 0.89 0.81 0.8443 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.708128 NA NA 0.896977 0.781434 NA 0.79 NA 3.0177896 1350 16 58589112 58589112 G A intronic CNOT1 NA NA NA intronic ENSG00000125107 NA NA NA NA NA 16q21 NA NA NA NA rs1568399 0.46 0.46 0.464 0.485224 0.3211 0.5704 0.2983 0.6687 0.4509 0.32 0.59 0.3 0.66 0.3705 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035764 NA NA 0.290698 0.602366 NA 0.399 NA 3.017702 1350 19 9060812 9060812 T C exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.A26634G:p.S8878S exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A26634G:p.S8878S NA NA 19p13.2 NA NA NA NA rs1820099 0.86 0.86 0.86 0.857428 0.8767 0.8522 0.9006 0.8253 0.8558 0.88 0.88 0.89 0.79 0.8728 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140284 NA NA 0.899543 0.845651 NA 0.899 NA 3.0176236 1350 9 139973629 139973629 A C intronic UAP1L1 NA NA NA intronic ENSG00000197355 NA NA NA NA NA 9q34.3 NA NA Name=4 NA rs7390710 0.5 0.5 0.43 0.501398 0.671 0.4742 0.5879 0.2088 0.6892 0.67 0.44 0.58 0.25 0.6242 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.084675 NA NA 0.687719 0.292332 NA 0.406 NA 3.017081 1350 18 61326505 61326505 T A intronic SERPINB3 NA NA NA intronic ENSG00000057149 NA NA NA NA NA 18q21.33 NA NA Name=31 NA rs8089032 0.97 0.97 0.966 0.966054 0.995 0.9861 0.9928 0.9123 0.9693 1 0.98 0.99 0.92 0.9882 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143326 NA NA NA NA NA 0.949 NA 3.0168 1350 3 113522544 113522544 T C intronic ATP6V1A NA NA NA intronic ENSG00000114573 NA NA NA NA NA 3q13.31 NA NA NA NA rs13321446 0.37 0.37 0.339 0.302915 0.3787 0.3472 0.2046 0.3752 0.1513 0.41 0.36 0.25 0.41 0.3357 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886552 NA NA 0.269276 0.304131 NA 0.261 NA 3.016324 1350 16 81241249 81241249 T A intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA NA NA NA rs72831349 0.19 0.19 0.169 0.157348 0.3787 0.003 0.232 0.0855 0.1329 0.36 0.0017 0.29 0.08 0.2642 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534592 NA NA 0.340777 0.129156 NA 0.181 NA 3.016323 1350 16 58580213 58580213 T C intronic CNOT1 NA NA NA intronic ENSG00000125107 NA NA NA NA NA 16q21 NA NA NA NA rs2241570 0.46 0.46 0.485 0.485423 0.3211 0.5694 0.2983 0.6694 0.4519 0.32 0.59 0.3 0.66 0.3696 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173457 NA NA 0.293023 0.604641 NA 0.399 NA 3.016277 1350 1 26900735 26900735 C G UTR3 RPS6KA1 NM_002953:c.*43C>G,NM_001006665:c.*43C>G NA NA UTR3 ENSG00000117676 ENST00000374168:c.*43C>G,ENST00000374166:c.*43C>G,ENST00000526792:c.*43C>G,ENST00000374162:c.*43C>G,ENST00000530003:c.*43C>G,ENST00000374163:c.*1742C>G,ENST00000531382:c.*43C>G NA NA NA NA 1p36.11 NA Name=CTCF NA NA rs282179 0.77 0.77 0.792 0.785942 0.7783 0.8492 0.6974 0.7557 0.8323 0.79 0.83 0.71 0.74 0.779 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252531 NA NA 0.760116 0.751475 NA 0.717 NA 3.0159174 1350 11 67554693 67554693 G A intergenic ALDH3B2,FAM86C2P dist=106008;dist=4545 NA NA ncRNA_intronic ENSG00000227620 NA NA NA NA NA 11q13.2 NA NA NA NA rs10791940 0.98 0.98 0.98 0.982029 0.9841 0.998 0.987 0.972 0.9734 0.99 1 0.98 0.96 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512613 NA NA NA NA NA 0.087 NA 3.0159 1350 12 55250549 55250549 T G intronic MUCL1 NA NA NA intronic ENSG00000172551 NA NA NA NA NA 12q13.2 NA NA NA NA rs10783685 0.46 0.46 0.411 NA NA NA NA NA NA 0.44 0.71 0.54 0.16 0.5404 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080871 NA NA 0.443721 0.157966 NA 0.391 NA 3.015879 1350 3 27047502 27047502 T C intergenic LRRC3B,NEK10 dist=295237;dist=209595 NA NA intergenic ENSG00000221438,ENSG00000163491 dist=251935;dist=104074 NA NA NA NA 3p24.1 NA NA NA NA rs1839022 0.2 0.2 0.178 0.207668 0.3181 0.0516 0.2133 0.1392 0.3436 0.32 0.05 0.24 0.15 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935049 NA NA NA NA NA 0.196 NA 3.0152334 1351 19 39691216 39691216 A T intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA NA NA NA rs11672475 0.35 0.35 0.301 0.320288 0.3201 0.4236 0.3285 0.2239 0.3384 0.31 0.48 0.39 0.25 0.3413 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69393 NA NA 0.323837 0.289605 NA 0.355 NA 3.014763 1351 16 1570857 1570857 T C intronic IFT140 NA NA NA intronic ENSG00000187535 NA NA NA NA NA 16p13.3 NA NA NA NA rs932391 0.52 0.52 0.533 0.553514 0.2833 0.6389 0.4885 0.829 0.4172 0.28 0.59 0.46 0.83 0.4141 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336675 NA NA 0.287907 0.728585 NA 0.543 NA 3.014693 1351 7 47319852 47319852 C T intronic TNS3 NA NA NA intronic ENSG00000136205 NA NA NA NA NA 7p12.3 NA NA NA NA rs6971754 0.21 0.21 0.204 0.203874 0.3529 0.0506 0.3271 0.1377 0.2106 0.35 0.05 0.29 0.14 0.2828 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79911 NA NA 0.350221 0.185014 NA 0.254 NA 3.014079 1351 7 142099988 142099988 A G intergenic LOC730441,MTRNR2L6 dist=127920;dist=274143 NA NA upstream ENSG00000229200 NA NA NA NA NA 7q34 NA NA NA NA rs361366 0.25 0.25 0.236 0.305312 0.1471 0.1131 0.2205 0.643 0.2699 0.13 0.11 0.25 0.6 0.1947 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099243 NA NA 0.144284 0.501394 NA 0.37 NA 3.013916 1351 1 153283179 153283179 A G UTR5 PGLYRP3 NM_052891:c.-38T>C NA NA UTR5 ENSG00000159527 ENST00000290722:c.-38T>C NA NA NA NA 1q21.3 NA NA NA NA rs3006473 0.35 0.35 0.321 0.325479 0.4672 0.1885 0.3689 0.3389 0.272 0.49 0.19 0.38 0.29 0.3956 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.908236 NA NA 0.456744 0.362233 NA 0.232 NA 3.0137894 1351 1 233397752 233397752 T C intronic PCNXL2 NA NA NA intronic ENSG00000135749 NA NA NA NA NA 1q42.2 NA NA NA NA rs6701073 0.25 0.25 0.236 0.277356 0.3429 0.1657 0.2291 0.2057 0.456 0.34 0.16 0.23 0.21 0.3208 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498199 NA NA 0.322782 0.224311 NA 0.196 NA 3.013518 1351 6 169982927 169982927 T A intronic WDR27 NA NA NA intronic ENSG00000184465 NA NA NA NA NA 6q27 NA NA NA NA rs6941625 0.53 0.53 0.523 0.572484 0.2734 0.8393 0.5965 0.6051 0.544 0.27 0.81 0.54 0.59 0.4361 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484819 NA NA 0.27699 0.525355 NA 0.391 NA 3.01351 1351 1 10420937 10420937 C T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs3748579 0.36 0.36 0.352 0.334065 0.338 0.3462 0.3761 0.3351 0.2863 0.34 0.37 0.41 0.34 0.3218 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034439 NA NA 0.326744 0.325011 NA 0.312 NA 3.013456 1351 1 161823011 161823011 T A intronic ATF6 NA NA NA intronic ENSG00000118217 NA NA NA Score=462;Name=lod=101 NA 1q23.3 NA NA NA NA rs2257107 0.44 0.44 0.412 0.400958 0.7038 0.3056 0.4395 0.0696 0.6084 0.72 0.34 0.49 0.08 0.6184 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.958098 1.958098 NA 0.664379 0.161144 ID=COSM146670;OCCURENCE=1(stomach) 0.522 NA 3.013421 1351 1 157557957 157557957 T C intronic FCRL4 NA NA NA intronic ENSG00000163518 NA NA NA NA NA 1q23.1 NA NA NA NA rs11799853 0.3 0.3 0.283 0.297324 0.3539 0.2202 0.3127 0.3071 0.2945 0.34 0.2 0.35 0.32 0.3025 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295141 NA NA 0.330233 0.315706 NA 0.326 NA 3.013367 1351 7 23823144 23823144 A G intronic STK31 NA NA NA intronic ENSG00000196335 NA NA NA NA NA 7p15.3 NA NA NA NA rs10950961 0.45 0.45 0.44 0.474641 0.507 0.5129 0.366 0.4455 0.5184 0.5 0.47 0.36 0.43 NA 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331924 NA NA 0.479887 0.458815 NA 0.312 NA 3.013113 1351 1 10394536 10394536 C G intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs2276100 0.36 0.36 0.338 0.333866 0.338 0.3462 0.3732 0.3351 0.2873 0.34 0.37 0.4 0.34 0.322 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.45947 1.45947 NA 0.327093 0.324784 NA 0.312 NA 3.012907 1351 4 178272748 178272748 G A intronic NEIL3 NA NA NA ncRNA_intronic ENSG00000249084 NA NA NA NA NA 4q34.3 NA NA NA NA rs1054753 0.27 0.27 0.236 0.225639 0.4682 0.0536 0.3141 0.1203 0.2331 0.47 0.06 0.37 0.13 0.374 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704962 NA NA 0.478256 0.186564 NA 0.232 NA 3.0128773 1351 3 108639270 108639270 C T intronic GUCA1C NA NA NA intronic ENSG00000138472 NA NA NA NA NA 3q13.13 NA NA NA NA rs6791441 0.32 0.32 0.322 0.319688 0.3439 0.25 0.2435 0.4357 0.2638 0.36 0.25 0.25 0.41 0.3137 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.169046 NA NA 0.329728 0.407811 NA 0.304 NA 3.012672 1351 13 42335222 42335222 T C intronic VWA8 NA NA NA intronic ENSG00000102763 NA NA NA NA NA 13q14.11 NA NA NA NA rs9566844 0.28 0.28 0.267 0.261382 0.335 0.2113 0.3329 0.1611 0.3221 0.34 0.23 0.35 0.19 0.3127 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.476047 1.476047 NA 0.339651 0.164548 NA 0.246 NA 3.012649 1351 14 106471353 106471353 C T intergenic ADAM6,LINC00226 dist=32995;dist=272916 NA NA exonic ENSG00000211935 NA nonsynonymous SNV ENSG00000211935:ENST00000390595:exon2:c.G244A:p.E82K NA NA 14q32.33 NA NA NA NA rs34069216 0.54 0.54 0.495 0.592252 0.6004 0.7361 0.5735 0.379 0.7372 0.55 0.72 0.53 0.32 0.6166 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.17024 NA 1 0.603785 0.438867 NA 0.514 NA 3.0125484 1351 3 192053274 192053274 G A intronic FGF12 NA NA NA intronic ENSG00000114279 NA NA NA NA NA 3q28 NA NA NA NA rs4571187 0.46 0.46 0.463 0.500799 0.2763 0.622 0.3357 0.6097 0.5767 0.28 0.65 0.35 0.58 0.3979 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740417 NA NA 0.313256 0.547889 NA 0.478 NA 3.012544 1351 9 123676482 123676482 T C intronic TRAF1 NA NA NA intronic ENSG00000056558 NA NA NA NA NA 9q33.2 NA Name=Pol2 NA NA rs2416805 0.7 0.7 0.706 0.731629 0.6402 0.7242 0.6888 0.7776 0.8016 0.64 0.72 0.69 0.75 0.6846 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.238332 1.238332 NA 0.662791 0.754426 NA 0.645 NA 3.012409 1351 17 4416638 4416638 G A intronic SPNS2 NA NA NA intronic ENSG00000183018 NA NA NA NA NA 17p13.2 NA NA NA NA rs9894697 0.31 0.31 0.315 0.336462 0.325 0.2173 0.3199 0.4266 0.3609 0.33 0.18 0.35 0.41 0.3348 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557785 NA NA 0.328029 0.442283 NA 0.377 NA 3.012171 1351 5 7717396 7717396 T C intronic ADCY2 NA NA NA ncRNA_intronic ENSG00000250761 NA NA NA NA NA 5p15.31 NA NA NA NA rs6878196 0.59 0.59 0.569 0.57508 0.4125 0.9494 0.6455 0.3669 0.5879 0.44 0.96 0.59 0.39 0.5013 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.880701 1.880701 NA 0.407438 0.40327 NA 0.471 NA 3.0120953 1351 14 92185731 92185731 G A intronic CATSPERB NA NA NA intronic ENSG00000133962 NA NA NA NA NA 14q32.12 NA NA NA NA rs17783516 0.34 0.34 0.342 0.377995 0.3181 0.4643 0.317 0.2965 0.5041 0.32 0.45 0.27 0.29 0.3493 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203195 NA NA 0.321005 0.322207 ID=COSN164767;OCCURENCE=1(breast) 0.377 NA 3.011595 1351 20 37534582 37534582 A G intronic PPP1R16B NA NA NA intronic ENSG00000101445 NA NA NA NA NA 20q11.23 NA NA NA NA rs12626105 0.36 0.36 0.351 0.35603 0.338 0.4167 0.3761 0.3381 0.3221 0.34 0.37 0.37 0.38 0.3264 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498466 NA NA 0.324535 0.345892 NA 0.261 NA 3.011065 1351 16 71212979 71212979 T C intronic HYDIN NA NA NA intronic ENSG00000157423 NA NA NA NA NA 16q22.2 NA NA NA NA rs2158102 0.42 0.42 0.4 0.403754 0.2843 0.5804 0.4697 0.3359 0.3896 0.29 0.58 0.43 0.41 0.378 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.08996 NA NA 0.326977 0.320746 NA 0.355 NA 3.010723 1351 19 14736288 14736288 C G intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA NA NA 19p13.12 NA NA NA NA rs34381727 0.24 0.24 NA 0.202476 0.3559 0.0575 0.2939 0.1573 0.1902 0.36 0.08 0.34 0.19 0.2865 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327975 NA NA 0.346977 0.178847 NA 0.254 NA 3.010623 1351 19 14741065 14741065 G A intronic EMR3 NA NA NA intronic ENSG00000131355 NA NA NA NA NA 19p13.12 NA NA NA NA rs62124014 0.24 0.24 0.218 0.198083 0.3559 0.0595 0.2939 0.1399 0.1892 0.36 0.08 0.34 0.17 0.2877 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239061 NA NA 0.346163 0.166591 NA 0.246 NA 3.010237 1351 2 44292977 44292977 C T intergenic LRPPRC,PPM1B dist=69833;dist=103023 NA NA downstream ENSG00000219391 NA NA NA NA NA 2p21 NA NA NA NA rs7565605 0.4 0.4 0.394 0.414936 0.4901 0.0982 0.451 0.5295 0.4836 0.48 0.11 0.46 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912688 NA NA NA NA NA 0.355 NA 3.0099 1351 17 39680580 39680580 A C intronic KRT19 NA NA NA intronic ENSG00000171345 NA NA NA NA NA 17q21.2 NA Name=Pol2 Name=6 NA rs1869719 0.97 0.97 0.967 0.967053 1 1 0.9942 0.8782 1 1 1 0.99 0.89 0.9908 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104021 NA NA 1 0.908534 NA 0.957 NA 3.0092 1351 3 183802097 183802097 T C intergenic HTR3C,HTR3E dist=23636;dist=12755 NA NA downstream ENSG00000233576 NA NA NA NA NA 3q27.1 NA NA NA NA rs6443941 0.61 0.61 0.64 0.586661 0.4911 0.7381 0.5476 0.7292 0.364 0.49 0.74 0.57 0.69 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038392 NA NA NA NA NA 0.478 NA 3.0089 1351 7 29111620 29111620 A C intronic CPVL NA NA NA intronic ENSG00000106066 NA NA NA NA NA 7p14.3 NA NA NA NA rs317719 0.96 0.96 0.969 0.969848 0.9911 0.874 0.9899 1 0.9918 0.99 0.88 0.98 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681593 NA NA NA NA NA 0.986 NA 3.0089 1351 2 234762480 234762480 A T intronic HJURP NA NA NA intronic ENSG00000123485 NA NA NA NA NA 2q37.1 NA Name=Pol2 NA NA rs626110 0.58 0.58 0.564 0.522963 0.6859 0.5446 0.6427 0.3684 0.4571 0.71 0.55 0.65 0.37 0.6234 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181015 NA NA 0.682093 0.415797 NA 0.667 NA 3.008607 1351 10 99147975 99147975 T C intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs869967 0.37 0.37 0.377 0.405152 0.337 0.3125 0.3415 0.5552 0.4131 0.33 0.28 0.33 0.58 0.3397 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187869 NA NA 0.315116 0.493872 NA 0.304 NA 3.008184 1351 2 96553772 96553772 G C intergenic TRIM43,FAHD2CP dist=288303;dist=122527 NA NA intronic ENSG00000174501 NA NA NA NA NA 2q11.1 NA NA NA NA rs4907218 0.35 0.35 0.293 0.402356 0.3439 0.6607 0.5288 0.2965 0.2495 0.27 0.58 0.39 0.17 0.3147 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.249794 NA NA NA NA NA 0.348 NA 3.0080667 1351 4 47886319 47886319 A C intronic NFXL1 NA NA NA intronic ENSG00000170448 NA NA NA NA NA 4p12 NA NA NA NA rs12510002 0.42 0.42 0.438 0.389177 0.327 0.6002 0.3415 0.3298 0.3497 0.35 0.63 0.35 0.33 0.3564 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734331 NA NA 0.308837 0.331284 NA 0.471 NA 3.007763 1351 19 49671151 49671151 G A intronic TRPM4 NA NA NA intronic ENSG00000130529 NA NA NA NA NA 19q13.33 NA NA NA NA rs68004247 0.31 0.31 0.297 0.338858 0.33 0.2212 0.2334 0.416 0.4397 0.32 0.19 0.28 0.43 0.3323 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.172108 2.172108 NA 0.330116 0.406718 NA 0.239 NA 3.007584 1351 11 62401716 62401716 A G intronic GANAB NA NA NA intronic ENSG00000089597 NA NA NA Score=278;Name=lod=18 NA 11q12.3 NA NA NA NA rs2957121 0.94 0.94 0.933 0.944089 0.995 1 0.9813 0.8026 0.999 0.99 1 0.98 0.75 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388035 NA NA 0.997486 0.849711 NA 0.884 NA 3.007514 1351 4 47880494 47880494 G A intronic NFXL1 NA NA NA intronic ENSG00000170448 NA NA NA NA NA 4p12 NA NA NA NA rs2289435 0.43 0.43 0.43 0.398163 0.328 0.5933 0.3415 0.3691 0.3487 0.35 0.62 0.35 0.38 0.3545 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359102 NA NA 0.31 0.347254 NA 0.471 NA 3.0075 1351 2 209030572 209030572 A G intronic C2orf80 NA NA NA intronic ENSG00000188674 NA NA NA Score=251;Name=lod=14 NA 2q34 NA NA NA NA rs6721025 0.55 0.55 0.566 0.546925 0.6918 0.3591 0.5274 0.5976 0.5368 0.68 0.33 0.58 0.59 0.6051 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.843172 2.843172 NA 0.695695 0.617631 NA 0.616 NA 3.007405 1351 15 62994928 62994928 G A intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs12908653 0.39 0.39 0.363 0.366613 0.3032 0.6875 0.3862 0.2118 0.2965 0.32 0.65 0.37 0.23 0.3521 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260649 1.260649 NA 0.337442 0.232183 NA 0.319 NA 3.007258 1351 19 51503524 51503524 T C intronic KLK8 NA NA NA ncRNA_intronic ENSG00000267879 NA NA NA NA NA 19q13.41 NA NA NA NA rs1701946 0.53 0.53 0.501 0.535144 0.4254 0.3909 0.5519 0.888 0.3078 0.43 0.39 0.53 0.85 0.4744 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325063 NA NA 0.426279 0.817295 NA 0.58 NA 3.0072543 1351 1 20944922 20944922 C T intronic CDA NA NA NA intronic ENSG00000158825 NA NA NA NA NA 1p36.12 NA NA NA NA rs61781970 0.32 0.32 0.312 0.311502 0.3231 0.244 0.317 0.3805 0.272 0.33 0.25 0.31 0.37 0.3556 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139858 NA NA 0.314375 0.396231 ID=COSN162994;OCCURENCE=1(NS) 0.312 NA 3.006925 1351 14 58060862 58060862 G A intronic SLC35F4 NA NA NA intronic ENSG00000151812 NA NA NA NA NA 14q22.3 NA NA NA NA rs17724076 0.26 0.26 0.232 0.257588 0.3608 0.2222 0.2464 0.2073 0.2638 0.34 0.21 0.27 0.21 0.2987 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25461 NA NA 0.333577 0.22234 NA 0.319 NA 3.006923 1351 19 36105917 36105917 A G intronic HAUS5 NA NA NA intronic ENSG00000249115 NA NA NA NA NA 19q13.12 NA NA NA NA rs34572637 0.23 0.23 0.218 0.265775 0.3101 0.2808 0.2622 0.0741 0.4663 0.3 0.27 0.27 0.06 0.3811 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246375 NA NA 0.301944 0.112819 NA 0.399 NA 3.006856 1351 21 40190620 40190620 C G intronic ETS2 NA NA NA intronic ENSG00000157557 NA NA NA NA NA 21q22.2 NA NA NA NA rs10854389 0.25 0.25 0.239 0.252995 0.331 0.2887 0.255 0.0923 0.3517 0.33 0.26 0.27 0.12 0.3219 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547291 NA NA 0.340349 0.150023 NA 0.159 NA 3.006751 1351 7 111629025 111629025 T A intronic DOCK4 NA NA NA intronic ENSG00000128512 NA NA NA NA NA 7q31.1 NA NA NA NA rs17401943 0.19 0.19 0.187 0.167532 0.3459 0.0099 0.1844 0.121 0.1973 0.35 0.01 0.23 0.11 0.2969 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188915 NA NA 0.350753 0.153541 NA 0.348 NA 3.006447 1351 17 19231898 19231898 T C intronic EPN2 NA NA NA intronic ENSG00000072134 NA NA NA NA NA 17p11.2 NA NA NA NA rs7206963 0.95 0.95 0.957 0.903554 0.994 0.8542 0.8746 0.9992 0.7526 0.99 0.87 0.89 1 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440673 NA NA NA NA NA 0.978 NA 3.006 1351 17 1675127 1675127 C T intronic SERPINF1 NA NA NA UTR5 ENSG00000132386 ENST00000573763:c.-201C>T,ENST00000572048:c.-161C>T NA NA NA NA 17p13.3 NA NA Name=16 NA rs4274474 0.79 0.79 0.802 0.757987 0.7346 0.7758 0.7507 0.8601 0.6309 0.76 0.79 0.7 0.89 0.7208 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079083 NA NA 0.705698 0.845665 NA 0.725 NA 3.0055687 1351 10 99118382 99118382 T C intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs2297988 0.39 0.39 0.412 0.425519 0.335 0.3115 0.353 0.6316 0.409 0.33 0.28 0.34 0.64 0.3439 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802544 NA NA 0.315698 0.556741 NA 0.355 NA 3.005402 1351 3 123049707 123049707 G T intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs9829332 0.27 0.27 0.268 0.234824 0.3449 0.2421 0.1873 0.2337 0.1493 0.36 0.22 0.2 0.26 0.2982 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30129 NA NA 0.351512 0.253518 NA 0.29 NA 3.005388 1351 12 108919390 108919390 T C intronic SART3 NA NA NA UTR3 ENSG00000198855 ENST00000549641:c.*8T>C NA NA NA NA 12q23.3 NA NA NA NA rs7963063 0.24 0.24 0.244 0.197684 0.4254 0.0883 0.2161 0.0998 0.1953 0.42 0.11 0.25 0.13 0.3231 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943746 NA NA 0.41314 0.139128 NA 0.181 NA 3.0050267 1352 13 97535933 97535933 C T intergenic HS6ST3,LINC00359 dist=44117;dist=57602 NA NA downstream ENSG00000235137 NA NA NA NA NA 13q32.1 NA NA NA NA rs869284 0.46 0.46 0.435 0.431709 0.495 0.6399 0.415 0.1346 0.5654 0.51 0.68 0.42 0.15 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734996 NA NA NA NA NA 0.326 NA 3.005 1352 5 118837833 118837833 C T intronic HSD17B4 NA NA NA intronic ENSG00000133835 NA NA NA NA NA 5q23.1 NA NA NA NA rs460945 0.25 0.25 0.273 0.274361 0.3529 0.4097 0.3818 0.093 0.2229 0.3 0.31 0.32 0.07 0.3226 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375505 NA NA 0.319726 0.132834 NA NA NA 3.004774 1352 10 99148151 99148151 A G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs2275090 0.37 0.37 0.387 0.404153 0.337 0.3125 0.3415 0.5514 0.4131 0.33 0.28 0.33 0.58 0.3398 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551233 NA NA 0.318605 0.493872 NA 0.304 NA 3.004595 1352 3 170912469 170912469 T A intronic TNIK NA NA NA intronic ENSG00000154310 NA NA NA NA NA 3q26.31 NA NA NA NA rs6773641 0.42 0.42 0.42 0.430711 0.34 0.5446 0.4164 0.3918 0.4693 0.34 0.57 0.36 0.42 0.3635 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909397 NA NA 0.291919 0.374344 NA 0.442 NA 3.004581 1352 5 149509270 149509270 A G intronic PDGFRB NA NA NA intronic ENSG00000113721 NA NA NA NA NA 5q32 NA Name=CTCF,FOXA1_(C-20) NA NA rs1864972 0.78 0.78 0.765 0.805312 0.659 0.8492 0.7522 0.9145 0.8006 0.65 0.85 0.74 0.92 0.7136 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279514 NA NA 0.623168 0.871708 NA 0.746 NA 3.004232 1352 11 2187071 2187071 T C intronic TH NA NA NA intronic ENSG00000180176 NA NA NA NA NA 11p15.5 NA NA NA NA rs6578990 0.92 0.92 0.914 0.911741 0.996 1 0.9712 0.6838 1 1 1 0.98 0.68 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876134 NA NA NA NA NA 0.884 NA 3.004 1352 14 104167075 104167075 C T intronic KLC1,XRCC3 NA NA NA intronic ENSG00000126214,ENSG00000126215 NA NA NA NA NA 14q32.33 NA Name=Pol2 NA NA rs861537 0.55 0.55 0.529 0.495008 0.6889 0.4375 0.5793 0.4206 0.3957 0.7 0.43 0.6 0.4 0.6089 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499279 NA NA 0.698282 0.499022 NA 0.551 NA 3.003918 1352 21 44152149 44152149 G A intronic PDE9A NA NA NA intronic ENSG00000160191 NA NA NA NA NA 21q22.3 NA NA NA NA rs2269153 0.37 0.37 0.365 0.397963 0.327 0.5506 0.2709 0.3139 0.5174 0.32 0.54 0.3 0.29 0.3558 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302727 NA NA 0.313605 0.307308 NA 0.341 NA 3.003595 1352 2 201474179 201474179 C T intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs17593811 0.4 0.4 0.422 0.378994 0.3231 0.4415 0.3458 0.4304 0.3262 0.33 0.45 0.33 0.5 0.3385 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003529 NA NA 0.335349 0.42374 NA 0.5 NA 3.003051 1352 7 134882680 134882680 A G intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA NA NA NA rs292582 0.95 0.95 0.944 0.948482 0.997 1 0.9798 0.8177 1 0.99 1 0.98 0.83 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261524 NA NA NA NA NA 0.942 NA 3.003 1352 13 49865748 49865748 A G intronic CDADC1 NA NA NA intronic ENSG00000102543 NA NA NA NA NA 13q14.2 NA NA NA NA rs6561514 0.96 0.96 0.946 0.954872 0.997 1 0.9726 0.8464 0.999 1 1 0.96 0.84 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282204 NA NA NA NA NA 0.928 NA 3.003 1352 18 43328295 43328295 G A intronic SLC14A1 NA NA NA intronic ENSG00000141469 NA NA NA NA NA 18q12.3 NA NA NA NA rs474270 0.17 0.17 0.161 0.176717 0.3439 0.0675 0.2017 0.0242 0.3057 0.33 0.07 0.22 0.03 0.289 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.497264 1.497264 NA 0.364186 0.081026 NA 0.196 NA 3.002914 1352 2 231106244 231106244 G C intronic SP140 NA NA NA intronic ENSG00000079263 NA NA NA NA NA 2q37.1 NA NA NA NA rs2288328 0.33 0.33 0.336 0.34385 0.338 0.3095 0.2939 0.3638 0.3937 0.35 0.35 0.27 0.34 0.3384 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059942 NA NA 0.320885 0.342631 NA 0.428 NA 3.002715 1352 11 68838028 68838028 C T intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs3829236 0.38 0.38 0.375 0.41893 0.503 0.2173 0.2839 0.3593 0.7168 0.53 0.24 0.34 0.35 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58696 NA NA 0.494343 0.361994 NA 0.435 NA 3.002657 1352 12 21654831 21654831 G T UTR5 GOLT1B NM_016072:c.-27G>T NA NA UTR5 ENSG00000111711 ENST00000542038:c.-6561G>T,ENST00000229314:c.-27G>T,ENST00000540141:c.-27G>T,ENST00000539663:c.-27G>T,ENST00000539025:c.-27G>T,ENST00000542194:c.-27G>T NA NA NA NA 12p12.1 NA Name=c-Myc,HEY1,TBP,ELK4,Pol2(b),HA-E2F1,Sin3Ak-20,Pol2-4H8,YY1,Max,ELF1_(SC-631),TAF1,TAF7_(SQ-8),YY1_(C-20),Pol2 NA NA rs1060126 0.73 0.73 0.69 0.705671 0.7714 0.9732 0.7723 0.2753 0.8967 0.78 0.98 0.77 0.32 0.7817 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610077 NA NA 0.777674 0.376078 NA 0.565 NA 3.0025594 1352 2 27015118 27015118 G A intronic CENPA NA NA NA intronic ENSG00000115163 NA NA NA NA NA 2p23.3 NA NA NA NA rs13014800 0.26 0.26 0.249 0.240815 0.334 0.2937 0.2378 0.115 0.2628 0.33 0.28 0.28 0.12 0.3199 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.709173 1.709173 NA 0.343837 0.157966 NA 0.268 NA 3.002263 1352 4 138346451 138346451 T C intergenic NONE,PCDH18 dist=NONE;dist=93623 NA NA downstream ENSG00000251440 NA NA NA NA NA 4q28.3 NA NA NA NA rs7677973 0.53 0.53 0.522 0.517971 0.498 0.5446 0.5202 0.5756 0.4315 0.51 0.52 0.52 0.58 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.356383 NA NA NA NA NA 0.565 NA 3.002 1352 12 56629276 56629276 A C intronic SLC39A5 NA NA NA intronic ENSG00000139540 NA NA NA NA NA 12q13.3 NA NA NA NA rs901073 0.87 0.87 0.84 0.841853 0.998 1 0.9409 0.4334 1 1 1 0.95 0.46 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136834 NA NA NA NA NA 0.826 NA 3.002 1352 17 62025238 62025238 G T intronic SCN4A NA NA NA intronic ENSG00000007314 NA NA NA NA NA 17q23.3 NA NA NA NA rs13341114 0.29 0.29 0.248 0.254393 0.34 0.4127 0.2839 0.056 0.2505 0.34 0.39 0.31 0.08 0.3155 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219772 NA NA 0.342577 0.107735 NA 0.312 NA 3.001923 1352 10 99140511 99140511 A G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs7078004 0.37 0.37 0.376 0.405551 0.337 0.3125 0.3415 0.556 0.4141 0.33 0.28 0.33 0.58 0.3426 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876379 NA NA 0.318488 0.497276 NA 0.304 NA 3.001912 1352 13 61301565 61301565 C T intergenic TDRD3,MIR3169 dist=153552;dist=472367 NA NA intergenic ENSG00000225249,ENSG00000206854 dist=32903;dist=62129 NA NA NA NA 13q21.2 NA NA NA NA rs9317133 0.3 0.3 0.284 0.264776 0.332 0.4276 0.366 0.1188 0.1534 0.32 0.42 0.33 0.11 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634739 NA NA NA NA NA 0.304 NA 3.0013334 1352 3 184766250 184766250 C T intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA NA NA NA rs6766721 0.42 0.42 0.043 0.551717 0.4404 0.6667 0.4914 0.5454 0.5992 0.35 0.55 0.45 0.36 0.4757 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603596 NA NA 0.082707 0.12526 NA NA NA 3.001193 1352 1 201293970 201293970 C T intronic PKP1 NA NA NA intronic ENSG00000081277 NA NA NA NA NA 1q32.1 NA NA NA NA rs1620046 0.96 0.96 0.96 0.944489 0.999 1 0.987 0.7988 0.998 1 1 0.99 0.83 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303322 1.303322 NA NA NA NA 0.935 NA 3.001 1352 11 55245643 55245643 T C intergenic OR4A15,OR4C15 dist=109249;dist=76140 NA NA ncRNA_exonic ENSG00000254962 NA NA NA NA NA 11q11 NA NA NA NA rs2553191 0.99 0.99 0.982 0.984425 0.999 0.999 0.9914 0.9478 0.999 1 1 0.99 0.95 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.528821 NA NA NA NA NA 0.971 NA 3.001 1352 4 68829207 68829207 G A UTR5 TMPRSS11A NM_182606:c.-96C>T,NM_001114387:c.-96C>T NA NA ncRNA_UTR5 ENSG00000187054 NA NA NA NA NA 4q13.2 NA NA NA NA rs6552134 0.61 0.61 0.607 0.578674 0.7197 0.8165 0.5375 0.2141 0.7106 0.73 0.81 0.59 0.22 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.62709 NA NA 0.779384 0.297688 NA 0.638 NA 3.000916 1352 1 155313047 155313047 T C intronic ASH1L NA NA NA intronic ENSG00000116539 NA NA NA NA NA 1q22 NA NA NA NA rs4971051 0.93 0.93 0.909 0.915735 1 0.999 0.9784 0.7073 0.9806 1 1 0.97 0.73 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703591 NA NA NA NA NA 0.942 NA 3 1352 11 10795803 10795803 G T intronic CTR9 NA NA NA intronic ENSG00000198730 NA NA NA NA NA 11p15.3 NA NA NA NA rs7103774 0.95 0.95 0.94 0.938099 1 1 0.9798 0.7761 1 1 1 0.98 0.8 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02472 NA NA NA NA NA 0.993 NA 3 1352 12 45170006 45170006 T C intronic NELL2 NA NA NA intronic ENSG00000184613 NA NA NA NA NA 12q12 NA NA NA NA rs4768572 0.98 0.98 0.963 0.973243 1 1 0.9957 0.9009 1 1 1 1 0.89 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857866 NA NA NA NA NA 0.986 NA 3 1352 18 14156241 14156241 A T intergenic ZNF519,ANKRD20A5P dist=23752;dist=22855 NA NA ncRNA_intronic ENSG00000175319 NA NA NA NA NA 18p11.21 NA NA NA NA rs4528647 0.88 0.88 0.924 0.953474 1 0.999 0.9856 0.8321 1 0.93 0.94 0.91 0.74 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30991 NA NA NA NA NA 0.645 NA 3 1352 21 32114822 32114822 T G intergenic KRTAP21-3,KRTAP21-2 dist=23727;dist=4447 NA NA ncRNA_exonic ENSG00000236400 NA NA NA NA NA 21q22.11 NA NA NA NA rs62220612 NA NA 0.98 1 1 1 1 1 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205411 NA NA NA NA NA NA NA 3 1352 12 52631242 52631242 C T intronic KRT7 NA NA NA intronic ENSG00000135480 NA NA NA NA NA 12q13.13 NA NA NA NA rs12313552 0.27 0.27 0.241 0.258986 0.341 0.2827 0.3285 0.1248 0.2822 0.34 0.26 0.31 0.13 0.3112 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015143 NA NA 0.347907 0.164094 NA 0.174 NA 2.999893 1352 13 96270202 96270202 A T intronic DZIP1 NA NA NA intronic ENSG00000134874 NA NA NA NA NA 13q32.1 NA NA NA NA rs17268561 0.29 0.29 0.274 0.270767 0.3559 0.1548 0.219 0.3336 0.2546 0.36 0.14 0.28 0.34 0.2985 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001853 NA NA 0.34656 0.325913 NA 0.297 NA 2.99904 1352 10 38982218 38982218 A T intergenic LOC399744,ACTR3BP5 dist=241137;dist=7509 NA NA upstream ENSG00000233867 NA NA NA NA NA 10p11.1 NA NA NA NA rs4070216 0.49 0.49 0.462 0.470248 0.501 0.5258 0.5288 0.5045 0.2935 0.49 0.49 0.52 0.46 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791951 NA NA NA NA NA 0.101 NA 2.999 1352 16 81241269 81241269 G A intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA NA NA NA rs4077826 0.2 0.2 0.182 0.159944 0.3847 0.003 0.2334 0.0855 0.1391 0.37 0.0017 0.3 0.08 0.2692 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558426 NA NA 0.347279 0.132817 NA 0.181 NA 2.998821 1352 2 98354139 98354139 G T intronic ZAP70 NA NA NA intronic ENSG00000115085 NA NA NA NA NA 2q11.2 NA NA NA NA rs17488834 0.22 0.22 0.142 0.16234 0.3618 0.0982 0.3228 0.0121 0.1125 0.38 0.1 0.34 0.01 0.2964 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.372127 NA NA 0.343023 0.070359 NA 0.174 NA 2.998777 1352 9 119977051 119977051 G T intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs7856971 0.33 0.33 0.307 0.321486 0.332 0.4177 0.3646 0.2534 0.273 0.33 0.37 0.36 0.26 0.334 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407605 NA NA 0.336058 0.282401 NA 0.297 NA 2.997942 1352 2 135160755 135160755 G A intronic MGAT5 NA NA NA intronic ENSG00000152127 NA NA NA NA NA 2q21.3 NA NA NA NA rs3748900 0.35 0.35 0.362 0.353834 0.339 0.4296 0.3573 0.2201 0.4693 0.33 0.46 0.33 0.24 0.3473 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099384 NA NA 0.31612 0.248865 NA 0.435 NA 2.99758 1352 3 101383562 101383562 G A intronic ZBTB11 NA NA NA intronic ENSG00000066422 NA NA NA NA NA 3q12.3 NA NA NA NA rs11712748 0.34 0.34 0.355 0.330671 0.33 0.2917 0.304 0.4637 0.2106 0.32 0.31 0.28 0.43 0.3273 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92483 NA NA 0.345349 0.429382 NA 0.275 NA 2.997351 1352 11 67223921 67223921 A C intronic CABP4 NA NA NA intronic ENSG00000175544 NA NA NA NA NA 11q13.2 NA NA NA NA rs1638565 0.5 0.5 0.235 0.506589 0.4235 0.3234 0.5692 0.8752 0.2382 0.42 0.3 0.52 0.86 0.4285 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731297 NA NA 0.151106 0.497271 NA NA NA 2.996894 1352 3 184295828 184295828 C A intronic EPHB3 NA NA NA intronic ENSG00000145191,ENSG00000182580 NA NA NA NA NA 3q27.1 NA NA NA NA rs4072650 0.33 0.33 0.34 0.330871 0.3608 0.1647 0.2478 0.5378 0.2505 0.34 0.17 0.29 0.52 0.3118 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159454 NA NA 0.330581 0.50522 NA 0.37 NA 2.996819 1352 2 27014980 27014980 T C intronic CENPA NA NA NA intronic ENSG00000115163 NA NA NA NA NA 2p23.3 NA NA NA NA rs12992046 0.26 0.26 0.261 0.242412 0.334 0.2937 0.2378 0.115 0.271 0.33 0.28 0.28 0.12 0.326 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702119 NA NA 0.343605 0.157739 NA 0.268 NA 2.996395 1352 6 51935747 51935747 C T intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.2 NA NA NA NA rs17576809 0.41 0.41 0.364 0.35623 0.504 0.3998 0.6023 0.1127 0.3139 0.51 0.41 0.59 0.13 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267112 NA NA 0.5 0.165462 NA 0.464 NA 2.996 1352 19 48250320 48250320 G C intronic GLTSCR2 NA NA NA intronic ENSG00000105373 NA NA NA NA NA 19q13.33 NA NA Name=24 NA rs2334293 0.53 0.53 0.524 0.51897 0.672 0.5546 0.5519 0.2186 0.7076 0.68 0.56 0.57 0.25 0.634 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396044 NA NA 0.69814 0.300045 NA 0.623 NA 2.99586 1352 12 31310983 31310983 G A intergenic DDX11,FAM60A dist=53258;dist=122537 NA NA ncRNA_exonic ENSG00000177359 NA NA NA NA NA 12p11.21 NA NA NA NA rs7971718 0.22 0.22 0.201 0.219649 0.3738 0.119 0.2017 0.1899 0.2178 0.36 0.12 0.2 0.14 0.2892 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785333 NA 0.02 0.341419 0.190302 NA 0.13 NA 2.995581 1352 6 168457801 168457801 A G exonic FRMD1 NA synonymous SNV FRMD1:NM_001122841:exon11:c.T1422C:p.A474A,FRMD1:NM_024919:exon11:c.T1626C:p.A542A exonic ENSG00000153303 NA synonymous SNV ENSG00000153303:ENST00000537786:exon10:c.T939C:p.A313A,ENSG00000153303:ENST00000283309:exon11:c.T1626C:p.A542A,ENSG00000153303:ENST00000440994:exon11:c.T1422C:p.A474A NA NA 6q27 NA NA NA NA rs3734898 0.86 0.86 0.861 0.860423 0.8926 0.8482 0.8156 0.8185 0.9284 0.9 0.87 0.79 0.86 0.881 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121664 NA NA 0.897573 0.835998 NA 0.891 NA 2.9954936 1352 2 234405374 234405374 A C intronic USP40 NA NA NA intronic ENSG00000085982 NA NA NA NA NA 2q37.1 NA NA NA NA rs2602386 0.38 0.38 0.404 0.408746 0.3608 0.1974 0.2752 0.7761 0.274 0.34 0.17 0.27 0.75 0.3277 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678631 NA NA 0.316352 0.679396 NA 0.493 NA 2.995148 1352 5 126479170 126479170 G A intergenic C5orf63,MEGF10 dist=69986;dist=147286 NA NA upstream ENSG00000214743 NA NA NA NA NA 5q23.2 NA NA NA NA rs248040 0.39 0.39 0.387 0.357029 0.505 0.3542 0.3703 0.2027 0.407 0.49 0.38 0.42 0.23 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018183 NA 0.51 NA NA NA 0.312 NA 2.995 1353 11 15198772 15198772 G T intronic INSC NA NA NA intronic ENSG00000188487 NA NA NA NA NA 11p15.2 NA NA NA NA rs1624731 0.65 0.65 0.614 0.645168 0.5219 0.9266 0.7118 0.4486 0.7004 0.53 0.94 0.7 0.44 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.980054 NA NA 0.483344 0.491329 NA 0.449 NA 2.994756 1353 14 100792093 100792093 C G intronic SLC25A47 NA NA NA intronic ENSG00000140107 NA NA NA NA NA 14q32.2 NA NA NA NA rs9324019 0.44 0.44 0.409 0.377995 0.34 0.5268 0.5591 0.3578 0.1626 0.35 0.57 0.53 0.36 0.359 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453742 NA NA 0.306279 0.354063 NA 0.319 NA 2.994721 1353 3 184295008 184295008 C A intronic EPHB3 NA NA NA intronic ENSG00000145191,ENSG00000182580 NA NA NA NA NA 3q27.1 NA NA NA NA rs7644069 0.32 0.32 0.348 0.32488 0.3598 0.1647 0.245 0.5197 0.2474 0.34 0.17 0.29 0.51 0.3172 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292429 NA NA 0.328332 0.488198 NA 0.362 NA 2.994668 1353 14 106471388 106471388 C A intergenic ADAM6,LINC00226 dist=33030;dist=272881 NA NA exonic ENSG00000211935 NA nonsynonymous SNV ENSG00000211935:ENST00000390595:exon2:c.G209T:p.S70I NA NA 14q32.33 NA NA NA NA rs34874585 0.51 0.51 0.482 0.612021 0.6004 0.7381 0.5764 0.4508 0.7372 0.49 0.67 0.52 0.34 0.628 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.059268 NA 1 0.610412 0.489308 NA 0.551 NA 2.9945214 1353 2 152349026 152349026 G A intronic NEB NA NA NA intronic ENSG00000080345,ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs2288195 0.7 0.7 0.675 0.638379 0.6769 0.7569 0.7003 0.5749 0.5184 0.66 0.79 0.71 0.63 0.6624 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81149 NA NA 0.666425 0.588819 NA 0.696 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081128.1;CLNDSDB=.;CLNDSDBID=. 2.994275 1353 5 98199077 98199077 T C intronic CHD1 NA NA NA intronic ENSG00000153922 NA NA NA NA NA 5q15 NA NA NA NA rs10069735 0.3 0.3 0.289 0.341254 0.2664 0.3264 0.2738 0.3487 0.4714 0.28 0.29 0.31 0.32 0.4484 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034806 NA NA 0.291022 0.367277 NA 0.319 NA 2.994178 1353 1 37796436 37796436 A G intergenic MIR4255,LOC728431 dist=169201;dist=124044 NA NA upstream ENSG00000230451 NA NA NA NA NA 1p34.3 NA NA NA NA rs4653277 0.52 0.52 0.496 0.498403 0.506 0.4573 0.6196 0.497 0.4489 0.51 0.45 0.62 0.53 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74424 NA NA NA NA NA 0.551 NA 2.994 1353 12 125465023 125465023 C T intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs4072887 0.4 0.4 0.41 0.407348 0.3241 0.4256 0.2421 0.562 0.3824 0.34 0.43 0.27 0.56 0.3589 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882055 NA NA 0.323098 0.5225 NA 0.377 NA 2.993902 1353 17 11737941 11737941 C T intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs3744586 0.36 0.36 0.319 0.353435 0.3231 0.4137 0.4236 0.2648 0.3926 0.32 0.41 0.41 0.31 0.3469 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113726 NA NA 0.336163 0.256468 NA 0.333 NA 2.993837 1353 12 32778039 32778039 A G intronic FGD4 NA NA NA intronic ENSG00000139132 NA NA NA NA NA 12p11.21 NA NA NA NA rs7970584 0.3 0.3 0.318 0.329872 0.341 0.1657 0.2911 0.4175 0.3967 0.33 0.18 0.27 0.4 0.3296 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228011 NA NA 0.335698 0.422379 NA 0.225 NA 2.993702 1353 6 99353272 99353272 A G intronic FBXL4 NA NA NA intronic ENSG00000112234 NA NA NA NA NA 6q16.1 NA NA NA NA rs6935315 0.28 0.28 0.202 0.264776 0.3897 0.0308 0.2651 0.382 0.2188 0.41 0.03 0.29 0.36 0.3255 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913617 NA NA 0.291279 0.277576 NA 0.362 NA 2.993521 1353 17 56798207 56798207 T C intronic RAD51C NA NA NA intronic ENSG00000108384 NA NA NA NA NA 17q22 NA NA NA NA rs28363318 0.23 0.23 0.23 0.205272 0.3748 0.001 0.2104 0.261 0.1626 0.35 0.0017 0.25 0.27 0.28 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203853 NA NA 0.35186 0.282342 NA 0.326 NA 2.99334 1353 11 67223920 67223920 C G intronic CABP4 NA NA NA intronic ENSG00000175544 NA NA NA NA NA 11q13.2 NA NA NA NA rs1638564 0.5 0.5 0.198 0.506589 0.4235 0.3234 0.5692 0.8752 0.2382 0.42 0.3 0.52 0.85 0.4291 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992293 NA NA 0.154715 0.506139 NA NA NA 2.992685 1353 15 21904078 21904078 C G intergenic CT60,LOC646214 dist=705445;dist=28436 NA NA intergenic ENSG00000258883,ENSG00000237161 dist=1021;dist=32482 NA NA NA NA 15q11.2 NA NA NA NA rs56038907 NA NA 0.29 0.353634 0.341 0.3601 0.3429 0.388 0.3211 NA NA NA NA NA 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680281 NA NA NA NA NA 0.188 NA 2.9923334 1353 9 78938246 78938246 T C intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs2803430 0.31 0.31 0.324 0.321486 0.3529 0.1369 0.2378 0.4667 0.3425 0.36 0.13 0.27 0.49 0.3206 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480884 NA NA 0.334254 0.44863 NA 0.283 NA 2.992246 1353 19 54198461 54198461 A G upstream;downstream MIR519B;MIR526B NA NA NA upstream;downstream ENSG00000207825;ENSG00000207580 NA NA NA NA NA 19q13.42 NA NA NA NA rs11672638 0.19 0.19 0.182 0.186502 0.2316 0.0704 0.17 0.2663 0.1636 0.23 0.05 0.19 0.29 0.2046 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625498 NA NA 0.238554 0.279018 NA 0.21 NA 2.9919126 1353 7 121942847 121942847 G C intronic FEZF1 NA NA NA intronic ENSG00000128610 NA NA NA NA NA 7q31.32 NA NA Name=14 NA rs6968786 0.62 0.62 0.581 0.616014 0.6869 0.5913 0.6052 0.5779 0.6278 0.69 0.57 0.59 0.56 0.6508 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298897 NA NA 0.670698 0.628915 NA 0.609 NA 2.991602 1353 9 77442616 77442616 C T intronic TRPM6 NA NA NA UTR3 ENSG00000119121 ENST00000359047:c.*7G>A NA NA NA NA 9q21.13 NA NA NA NA rs7045949 0.65 0.65 0.64 0.675919 0.5537 0.8085 0.6254 0.674 0.7035 0.53 0.79 0.67 0.66 0.6215 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938491 NA NA NA NA NA 0.609 NA 2.9914667 1353 1 158057691 158057691 A C intronic KIRREL NA NA NA intronic ENSG00000183853 NA NA NA NA NA 1q23.1 NA NA NA NA rs3820676 0.39 0.39 0.403 0.395168 0.3231 0.2649 0.3314 0.6793 0.2648 0.32 0.26 0.36 0.66 0.3479 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584087 NA NA 0.338023 0.605765 NA 0.333 NA 2.990977 1353 4 9558041 9558041 T C upstream MIR548I2 NA NA NA upstream ENSG00000221275 NA NA NA NA NA 4p16.1 NA NA NA NA rs11728441 0.52 0.52 0.504 0.466853 0.6759 0.495 0.5447 0.2035 0.5235 0.67 0.5 0.61 0.25 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387892 NA NA NA NA NA 0.42 NA 2.9907666 1353 2 29446202 29446202 G A intronic ALK NA NA NA intronic ENSG00000171094 NA NA NA NA NA 2p23.2 NA NA NA NA rs4622670 0.17 0.17 0.165 0.176518 0.3519 0.0536 0.2219 0.0098 0.316 0.35 0.04 0.23 0.01 0.2896 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.348384 1.348384 NA 0.367791 0.068316 NA 0.196 NA 2.990709 1353 20 37635027 37635027 T C intronic DHX35 NA NA NA intronic ENSG00000101452 NA NA NA NA NA 20q12 NA NA NA NA rs3752298 0.39 0.39 0.387 0.40016 0.3489 0.4286 0.3804 0.4743 0.3374 0.35 0.36 0.36 0.51 0.345 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601357 NA NA 0.315581 0.464367 NA 0.341 NA 2.990519 1353 1 200574959 200574959 T C intronic KIF14 NA NA NA intronic ENSG00000118193 NA NA NA NA NA 1q32.1 NA NA NA NA rs2808238 0.3 0.3 0.265 0.288938 0.3519 0.1825 0.3199 0.3464 0.2342 0.35 0.19 0.31 0.33 0.3209 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868301 NA NA 0.336737 0.342237 ID=COSN163384;OCCURENCE=1(breast) 0.391 NA 2.990463 1353 9 133554065 133554065 A G intronic PRDM12 NA NA NA intronic ENSG00000130711 NA NA NA NA NA 9q34.12 NA NA NA NA rs7030674 0.41 0.41 0.428 0.427915 0.328 0.4782 0.4611 0.5023 0.3548 0.33 0.48 0.42 0.47 0.3598 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.085309 NA NA 0.321977 0.449387 NA 0.399 NA 2.990223 1353 19 35875036 35875036 T C intergenic FFAR3,LOC100128682 dist=23647;dist=21473 NA NA downstream ENSG00000268222 NA NA NA NA NA 19q13.12 NA NA NA NA rs2188617 0.54 0.54 0.503 0.564896 0.5099 0.4901 0.6196 0.5983 0.6145 0.51 0.48 0.62 0.59 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11846 NA NA NA NA NA 0.514 NA 2.9901 1353 2 201488758 201488758 A G intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA Name=10 NA rs2348021 0.6 0.6 0.554 0.615415 0.6769 0.5645 0.6974 0.5204 0.6748 0.67 0.56 0.69 0.48 0.6658 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051362 NA NA 0.667605 0.536925 NA 0.486 NA 2.989695 1353 12 121426594 121426594 G A intronic HNF1A NA NA NA intronic ENSG00000135100 NA NA NA NA NA 12q24.31 NA NA NA NA rs1169294 0.32 0.32 0.318 0.315296 0.336 0.4008 0.3473 0.1498 0.407 0.32 0.43 0.38 0.16 0.3464 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301544 NA NA 0.32814 0.164094 NA 0.261 NA 2.98946 1353 17 11737938 11737938 G A intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs3744585 0.36 0.36 0.318 0.353435 0.3231 0.4137 0.4236 0.2648 0.3926 0.32 0.41 0.41 0.31 0.3471 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86879 NA NA 0.340465 0.258057 NA 0.333 NA 2.989335 1353 16 28618446 28618446 T C intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA NA NA 16p11.2 NA NA NA NA rs2925623 0.27 0.27 0.186 0.291134 0.335 0.2639 0.4784 0.23 0.2239 0.32 0.21 0.36 0.21 0.3499 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.646462 NA 0.28 0.325814 0.200273 ID=COSN165161;OCCURENCE=1(NS) 0.159 NA 2.989286 1353 19 2851678 2851678 A T intronic ZNF555 NA NA NA ncRNA_intronic ENSG00000267063 NA NA NA NA NA 19p13.3 NA NA NA NA rs11880407 0.38 0.38 0.36 0.405751 0.4374 0.3353 0.3285 0.3661 0.5542 0.42 0.33 0.36 0.39 0.4385 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550739 NA NA 0.468953 0.356786 ID=COSN165685;OCCURENCE=1(breast) 0.362 NA 2.9884803 1353 4 110865271 110865271 T G intronic EGF NA NA NA intronic ENSG00000138798 NA NA NA NA NA 4q25 NA NA NA NA rs10470911 0.33 0.33 0.292 0.321885 0.333 0.2738 0.4611 0.3185 0.2658 0.33 0.28 0.45 0.28 0.3398 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831033 NA NA 0.339186 0.313351 NA 0.413 NA 2.988014 1353 20 44259490 44259490 G A intronic WFDC10A,WFDC9 NA NA NA intronic ENSG00000180205,ENSG00000180305 NA NA NA NA NA 20q13.12 NA NA NA NA rs1487323 0.39 0.39 0.402 0.38758 0.325 0.4276 0.3516 0.3949 0.4264 0.31 0.43 0.39 0.46 0.3593 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988874 NA NA 0.327907 0.381752 ID=COSN166537;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.297 NA 2.987793 1353 16 84444113 84444113 C T intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs2291006 0.6 0.6 0.578 0.577077 0.5219 0.8175 0.5937 0.5234 0.4468 0.53 0.82 0.58 0.47 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958058 NA NA 0.490572 0.536127 NA 0.543 NA 2.987528 1353 1 169599254 169599254 T C intronic SELP NA NA NA intronic ENSG00000174175 NA NA NA NA NA 1q24.2 NA NA NA NA rs732314 0.48 0.48 0.495 0.46865 0.5109 0.3343 0.3934 0.6611 0.3569 0.51 0.3 0.43 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49684 NA NA 0.501886 0.622832 NA 0.514 NA 2.987214 1353 19 55142930 55142930 C T intronic LILRB1 NA NA NA intronic ENSG00000104972 NA NA NA NA NA 19q13.42 NA NA NA NA rs3843752 0.47 0.47 0.48 0.45627 0.3022 0.5982 0.4856 0.5734 0.2894 0.3 0.59 0.45 0.6 0.3915 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399198 NA NA 0.319419 0.542669 NA 0.507 NA 2.986881 1353 22 32621619 32621619 C T intronic SLC5A4 NA NA NA ncRNA_intronic ENSG00000242082 NA NA NA NA NA 22q12.3 NA NA NA NA rs2294208 0.42 0.42 0.421 0.45028 0.4632 0.1518 0.3329 0.7557 0.4151 0.45 0.13 0.34 0.75 0.4357 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565764 NA NA 0.447907 0.70404 NA 0.478 NA 2.9865263 1353 14 22337393 22337393 G A intergenic OR4E2,DAD1 dist=203155;dist=696414 NA NA exonic ENSG00000211788 NA nonsynonymous SNV ENSG00000211788:ENST00000390436:exon2:c.G184A:p.G62R NA NA 14q11.2 NA NA NA NA rs876093 0.68 0.68 0.679 0.680511 0.6014 0.7619 0.6282 0.702 0.6861 0.61 0.76 0.62 0.72 0.6382 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.34897 1.34897 0.15 0.607497 0.676501 NA 0.746 NA 2.9862364 1353 15 89449137 89449137 C G intronic MFGE8 NA NA NA intronic ENSG00000140545 NA NA NA NA NA 15q26.1 NA NA NA NA rs3743388 0.42 0.42 0.414 0.442692 0.3201 0.3938 0.4424 0.6422 0.3497 0.32 0.38 0.39 0.63 0.3615 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581553 NA NA 0.332635 0.595909 NA 0.514 NA 2.985765 1353 17 33331575 33331575 C T UTR3 LIG3 NM_013975:c.*50C>T NA NA UTR3 ENSG00000005156 ENST00000378526:c.*50C>T NA NA NA NA 17q12 NA NA NA NA rs1052536 0.32 0.32 0.291 0.304113 0.4742 0.3095 0.3473 0.1104 0.3548 0.48 0.27 0.35 0.12 0.4156 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087946 NA NA 0.458256 0.159173 NA 0.304 NA 2.9852774 1353 19 18308508 18308508 C T intronic RAB3A NA NA NA intronic ENSG00000105649 NA NA NA NA NA 19p13.11 NA NA NA NA rs8109807 0.25 0.25 0.229 0.216054 0.3708 0.0893 0.2536 0.2262 0.1472 0.39 0.08 0.27 0.23 0.3023 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347343 NA NA 0.34186 0.251702 ID=COSN165763;OCCURENCE=1(NS) 0.188 NA 2.98504 1354 19 22398525 22398525 A G intergenic ZNF676,ZNF729 dist=18772;dist=70727 NA NA intergenic ENSG00000268079,ENSG00000267872 dist=11720;dist=27531 NA NA NA NA 19p12 NA NA NA NA rs281185 0.44 0.44 0.433 0.46885 0.3489 0.3423 0.3761 0.73 0.4356 0.35 0.32 0.36 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597737 NA NA NA NA NA 0.442 NA 2.9844334 1354 5 176314434 176314434 C T intronic HK3 NA NA NA intronic ENSG00000160883 NA NA NA NA NA 5q35.2 NA NA NA NA rs2278493 0.31 0.31 0.26 0.304113 0.326 0.3958 0.4323 0.0749 0.4059 0.33 0.38 0.45 0.07 0.3487 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407267 NA NA 0.34101 0.127326 NA 0.297 NA 2.98429 1354 15 42129158 42129158 G A intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA NA NA rs890505 0.25 0.25 0.206 0.248403 0.3559 0.1806 0.4135 0.053 0.3548 0.37 0.17 0.39 0.06 0.3205 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292125 NA NA 0.339615 0.107462 NA 0.152 NA 2.983985 1354 17 2929286 2929286 A C intronic RAP1GAP2 NA NA NA intronic ENSG00000132359 NA NA NA NA NA 17p13.3 NA Name=CTCF NA NA rs4072679 0.69 0.69 0.655 0.691294 0.6441 0.6438 0.7205 0.711 0.7413 0.68 0.66 0.73 0.7 0.6937 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441015 NA NA 0.678367 0.738141 NA 0.703 NA 2.983833 1354 21 33949059 33949059 G A UTR3 TCP10L NM_144659:c.*25C>T NA NA UTR3 ENSG00000242220 ENST00000300258:c.*25C>T NA NA NA NA 21q22.11 NA NA NA NA rs7520 0.47 0.47 0.492 0.50639 0.4553 0.3512 0.4207 0.6944 0.5256 0.44 0.38 0.43 0.65 0.4584 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918405 NA NA 0.43593 0.648661 NA 0.5 NA 2.9837034 1354 16 80666886 80666886 T C intronic CDYL2 NA NA NA intronic ENSG00000166446 NA NA NA NA NA 16q23.2 NA NA NA NA rs59675671 0.44 0.44 0.439 0.452077 0.337 0.254 0.5043 0.7852 0.2873 0.33 0.26 0.51 0.75 0.3667 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241109 NA NA 0.312674 0.708806 NA 0.486 NA 2.983626 1354 19 49519230 49519230 T G downstream LHB,RUVBL2 NA NA NA UTR3 ENSG00000183207 ENST00000595090:c.*131T>G NA NA NA NA 19q13.33 NA NA NA NA rs2013039 0.48 0.48 0.444 0.512181 0.503 0.2798 0.5735 0.6551 0.5245 0.49 0.28 0.52 0.64 0.5136 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.702597 1.702597 NA NA NA ID=COSN165865;OCCURENCE=1(breast) 0.63 NA 2.9834 1354 16 29872361 29872361 G A intronic CDIPT NA NA NA intronic ENSG00000103502 NA NA NA NA NA 16p11.2 NA NA NA NA rs3815822 0.39 0.39 0.403 0.361222 0.5487 0.13 0.3314 0.497 0.2444 0.56 0.1 0.36 0.49 0.4681 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20359 NA NA NA NA NA 0.362 NA 2.9832 1354 15 42133502 42133502 T C intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs11635415 0.25 0.25 0.18 0.2498 0.3569 0.1865 0.415 0.053 0.3538 0.37 0.17 0.39 0.06 0.3197 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14691 NA NA 0.340349 0.110758 NA 0.159 NA 2.983051 1354 17 39280487 39280487 A C upstream KRTAP4-12 NA NA NA upstream ENSG00000213416 NA NA NA NA NA 17q21.2 NA NA NA NA rs6503601 0.67 0.67 0.703 0.663738 0.6839 0.4058 0.6412 0.9554 0.5307 0.69 0.42 0.66 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807872 NA NA NA NA NA 0.797 NA 2.9827666 1354 9 134465410 134465410 G C intronic RAPGEF1 NA NA NA intronic ENSG00000107263 NA NA NA NA NA 9q34.13 NA NA NA NA rs3818580 0.22 0.22 0.198 0.203075 0.3598 0.1548 0.2089 0.059 0.2822 0.35 0.16 0.23 0.08 0.307 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109376 NA NA 0.350662 0.089387 ID=COSN168688;OCCURENCE=1(large_intestine) 0.239 NA 2.982538 1354 1 209784927 209784927 G T intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs2076230 0.32 0.32 0.315 0.319489 0.3429 0.1071 0.2867 0.4735 0.3292 0.35 0.14 0.31 0.47 0.3392 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.888403 NA NA 0.335465 0.429641 NA 0.384 NA 2.982435 1354 17 8393900 8393900 G C intronic MYH10 NA NA NA intronic ENSG00000133026 NA NA NA NA NA 17p13.1 NA NA NA NA rs2270744 0.36 0.36 0.355 0.379393 0.3181 0.4177 0.3977 0.3419 0.4407 0.32 0.4 0.34 0.39 0.361 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422002 1.422002 NA 0.338721 0.330458 NA 0.275 NA 2.982179 1354 10 95216623 95216623 A G intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA Name=46 NA rs701882 0.59 0.59 0.548 0.566693 0.6968 0.5198 0.6268 0.4539 0.591 0.72 0.49 0.66 0.44 0.6422 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409762 NA NA 0.678851 0.512446 NA 0.529 NA 2.982149 1354 2 207101611 207101611 C T intergenic GPR1,ZDBF2 dist=18840;dist=37912 NA NA upstream ENSG00000159186 NA NA NA NA NA 2q33.3 NA NA NA NA rs9989831 0.59 0.59 0.593 0.627396 0.5179 0.5109 0.6225 0.8593 0.5501 0.5 0.49 0.59 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.901665 NA NA NA NA NA 0.565 NA 2.9821 1354 7 2552986 2552986 A C intronic LFNG NA NA NA intronic ENSG00000106003 NA NA NA NA NA 7p22.3 NA NA NA NA rs286560 0.22 0.22 0.193 0.258786 0.3439 0.1419 0.2651 0.1278 0.4642 0.36 0.12 0.25 0.11 0.3296 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363918 NA NA 0.345059 0.16773 NA 0.188 NA 2.981441 1354 1 200567596 200567596 T G intronic KIF14 NA NA NA intronic ENSG00000118193 NA NA NA NA NA 1q32.1 NA NA NA NA rs2809358 0.3 0.3 0.268 0.288538 0.3519 0.1825 0.3213 0.3442 0.2342 0.35 0.19 0.31 0.32 0.3294 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.559722 2.559722 NA 0.337677 0.34189 ID=COSN163383;OCCURENCE=2(breast) 0.391 NA 2.981023 1354 7 38908876 38908876 T C intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA NA NA 7p14.1 NA NA NA NA rs3735346 0.21 0.21 0.19 0.152157 0.3777 0.119 0.2161 0.0234 0.0828 0.4 0.09 0.24 0.02 0.2697 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532406 NA NA 0.37186 0.086927 NA 0.087 NA 2.98074 1354 2 170099895 170099895 A C intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs2075255 0.56 0.56 0.505 0.0211661 0.007 0.0149 0.0115 0.0575 NA 0.47 0.47 0.64 0.75 0.5498 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098102 NA NA 0.46314 0.726963 NA 0.652 NA 2.98006 1354 16 20855309 20855309 A G exonic LOC81691 NA synonymous SNV LOC81691:NM_001199053:exon16:c.A1680G:p.E560E,LOC81691:NM_030941:exon16:c.A1680G:p.E560E exonic ENSG00000005189 NA synonymous SNV ENSG00000005189:ENST00000261377:exon16:c.A1680G:p.E560E,ENSG00000005189:ENST00000564274:exon16:c.A1680G:p.E560E NA NA 16p12.3 NA NA NA NA rs9929443 0.83 0.83 0.813 0.824281 0.9085 0.8671 0.8876 0.6604 0.8701 0.91 0.85 0.86 0.66 0.8795 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422844 NA NA 0.898721 0.70309 NA 0.775 NA 2.9799456 1354 7 142881540 142881540 G A downstream TAS2R39 NA NA NA downstream ENSG00000236398 NA NA NA NA NA 7q34 NA NA NA NA rs4726600 0.12 0.12 0.116 0.0922524 0.2535 0.0119 0.1153 0.025 0.0838 0.26 0.02 0.11 0.03 0.2101 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243776 NA NA 0.223283 0.049589 NA 0.196 NA 2.9797836 1354 6 161204311 161204311 T A intergenic PLG,MAP3K4 dist=29226;dist=208511 NA NA intergenic ENSG00000122194,ENSG00000223627 dist=29973;dist=32271 NA NA NA NA 6q26 NA NA NA NA rs12526591 0.48 0.48 0.454 0.474641 0.3539 0.5843 0.5706 0.4766 0.4151 0.36 0.61 0.52 0.49 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365174 NA NA NA NA NA 0.399 NA 2.9794334 1354 10 97446206 97446206 G A intronic TCTN3 NA NA NA intronic ENSG00000119977 NA NA NA NA NA 10q24.1 NA NA NA NA rs2297788 0.43 0.43 0.44 0.42512 0.3469 0.7133 0.255 0.4251 0.3292 0.35 0.7 0.26 0.38 0.3546 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751828 NA NA 0.319302 0.417385 NA 0.326 NA 2.979198 1354 3 111993915 111993915 A G intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs4682100 0.33 0.33 0.316 0.309305 0.3519 0.4345 0.304 0.1399 0.3691 0.36 0.48 0.28 0.15 0.3301 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.954072 2.954072 NA 0.338812 0.156497 NA 0.319 NA 2.979188 1354 1 38030696 38030696 T C UTR3 DNALI1 NM_003462:c.*34T>C NA NA UTR3 ENSG00000163879 ENST00000296218:c.*34T>C,ENST00000541606:c.*34T>C NA NA NA NA 1p34.3 NA NA NA NA rs6619 0.45 0.45 0.414 0.410942 0.4692 0.5694 0.562 0.2247 0.3323 0.48 0.53 0.52 0.23 0.4452 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666793 NA NA 0.439767 0.250113 ID=COSN163046;OCCURENCE=1(breast) 0.42 NA 2.9791664 1354 6 161204262 161204262 T C intergenic PLG,MAP3K4 dist=29177;dist=208560 NA NA intergenic ENSG00000122194,ENSG00000223627 dist=29924;dist=32320 NA NA NA NA 6q26 NA NA NA NA rs13216458 0.48 0.48 0.447 0.47484 0.3549 0.5843 0.5706 0.4766 0.4151 0.36 0.61 0.52 0.49 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690621 NA NA NA NA NA 0.399 NA 2.9784334 1354 19 39691239 39691239 A G intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA NA NA NA rs11672479 0.4 0.4 0.363 0.388778 0.326 0.4236 0.3458 0.4569 0.3558 0.31 0.48 0.41 0.42 0.3632 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232473 NA NA 0.332907 0.444394 NA 0.399 NA 2.977893 1354 2 113955074 113955074 G A intronic PSD4 NA NA NA intronic ENSG00000125637 NA NA NA NA NA 2q13 NA NA NA NA rs902695 0.46 0.46 0.442 0.440895 0.4672 0.6498 0.5288 0.1838 0.4836 0.47 0.63 0.49 0.2 0.555 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.459397 2.459397 NA NA NA NA 0.428 NA 2.9778 1354 14 23888665 23888665 A T intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs2277475 0.32 0.32 0.336 0.336661 0.3429 0.0952 0.2363 0.6626 0.2096 0.32 0.08 0.27 0.64 0.3167 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372256 NA NA 0.362791 0.623922 NA 0.449 NA 2.977609 1354 5 16676103 16676103 T C intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs28057 0.29 0.29 0.285 0.308307 0.3111 0.2073 0.3156 0.3185 0.3906 0.29 0.23 0.36 0.3 0.354 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617584 NA NA 0.357691 0.314446 NA 0.442 NA 2.977209 1354 4 39864448 39864448 G A intronic PDS5A NA NA NA intronic ENSG00000121892 NA NA NA NA NA 4p14 NA NA NA NA rs4547806 0.23 0.23 0.221 0.239816 0.3618 0.2361 0.2435 0.0522 0.3691 0.36 0.19 0.25 0.06 0.3158 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166248 NA NA 0.345285 0.100055 NA 0.159 NA 2.977115 1354 19 39691136 39691136 C A intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA NA NA NA rs11672471 0.39 0.39 0.415 0.381589 0.327 0.4236 0.3473 0.4289 0.3548 0.32 0.48 0.41 0.4 0.3625 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142479 NA NA 0.333488 0.414889 NA 0.384 NA 2.977012 1354 5 180055864 180055864 G A intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs438464 0.4 0.4 0.045 0.458466 0.5179 0.3115 0.5922 0.4387 0.4806 0.44 0.27 0.48 0.41 0.4711 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410309 NA NA 0.034274 0.01938 NA NA NA 2.976726 1354 11 46392825 46392825 C G intronic DGKZ NA NA NA intronic ENSG00000149091 NA NA NA NA NA 11p11.2 NA NA NA NA rs10838601 0.41 0.41 0.463 0.467252 0.337 0.2569 0.2522 0.8041 0.5153 0.34 0.29 0.26 0.79 0.3585 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781682 NA NA 0.327867 0.736376 NA 0.442 NA 2.976633 1354 1 24779873 24779873 C T intronic NIPAL3 NA NA NA intronic ENSG00000001461 NA NA NA NA NA 1p36.11 NA NA NA NA rs1883462 0.31 0.31 0.291 0.292532 0.3539 0.3115 0.2695 0.2859 0.2352 0.36 0.28 0.28 0.3 0.3252 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563547 NA NA 0.345116 0.317068 NA 0.246 NA 2.975784 1354 12 96384345 96384345 T C intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs17676826 0.34 0.34 0.327 0.365815 0.336 0.4167 0.2579 0.2905 0.5225 0.33 0.41 0.29 0.29 0.3575 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515875 NA NA 0.331047 0.281888 NA 0.275 NA 2.975453 1354 5 179260009 179260009 G A intronic SQSTM1 NA NA NA intronic ENSG00000161011 NA NA NA NA NA 5q35.3 NA NA NA NA rs2241349 0.4 0.4 0.375 0.401358 0.3022 0.6062 0.4582 0.2095 0.5112 0.32 0.65 0.44 0.22 0.3957 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332688 NA NA 0.327093 0.249887 NA 0.225 NA 2.975007 1355 16 76389441 76389441 G A intronic CNTNAP4 NA NA NA intronic ENSG00000152910 NA NA NA NA NA 16q23.1 NA NA NA NA rs2866712 0.21 0.21 0.197 0.189297 0.3857 0.0169 0.2507 0.1142 0.2229 0.38 0.02 0.27 0.12 0.2929 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.380778 1.380778 NA 0.346512 0.156051 NA 0.254 NA 2.974888 1355 20 36989302 36989302 C G intronic LBP NA NA NA intronic ENSG00000129988 NA NA NA NA NA 20q11.23 NA NA NA NA rs1780624 0.64 0.64 0.631 0.649161 0.5 0.88 0.536 0.6566 0.635 0.49 0.88 0.55 0.65 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.172109 NA NA 0.525141 0.623555 NA 0.587 NA 2.974859 1355 19 38229378 38229378 G A UTR3 ZNF573 NM_152360:c.*15C>T,NM_001172690:c.*15C>T,NM_001172692:c.*15C>T,NM_001172691:c.*15C>T,NM_001172689:c.*15C>T NA NA UTR3 ENSG00000189144 ENST00000589632:c.*1894C>T,ENST00000590414:c.*15C>T,ENST00000339503:c.*15C>T,ENST00000357309:c.*15C>T,ENST00000536220:c.*15C>T,ENST00000392138:c.*15C>T,ENST00000586155:c.*1889C>T NA NA NA NA 19q13.12 NA Name=SETDB1,ZNF274 NA NA rs1291 0.59 0.59 0.577 0.550919 0.83 0.3472 0.696 0.3638 0.6237 0.83 0.35 0.72 0.39 0.7153 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345212 NA NA 0.813372 0.449387 NA 0.652 NA 2.9746614 1355 19 15065169 15065169 T C intronic SLC1A6 NA NA NA intronic ENSG00000105143 NA NA NA NA NA 19p13.12 NA NA Name=9 NA rs757465 0.73 0.73 0.725 0.75639 0.671 0.7222 0.7305 0.8684 0.7464 0.66 0.71 0.72 0.85 0.6973 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403287 NA NA 0.657159 0.835682 NA 0.609 NA 2.974541 1355 3 75571173 75571173 G A intergenic FAM86DP,MIR1324 dist=86907;dist=108741 NA NA downstream ENSG00000243794 NA NA NA NA NA 3p12.3 NA NA NA NA rs1703191 0.43 0.43 0.5 0.408347 0.5268 0.4772 0.5447 0.2776 0.2955 0.51 0.43 0.5 0.25 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.091242 NA NA NA NA NA NA NA 2.9732 1355 16 15116521 15116521 C T intronic PDXDC1 NA NA NA intronic ENSG00000179889 NA NA NA NA NA 16p13.11 NA NA NA NA rs4985160 0.5 0.5 0.494 NA NA NA NA NA NA 0.53 0.52 0.61 0.37 0.5236 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615716 NA NA 0.503605 0.381148 NA 0.551 NA 2.972795 1355 22 50277835 50277835 T C exonic ZBED4 NA synonymous SNV ZBED4:NM_014838:exon2:c.T525C:p.S175S exonic ENSG00000100426 NA synonymous SNV ENSG00000100426:ENST00000216268:exon2:c.T525C:p.S175S NA NA 22q13.33 NA NA NA NA rs910796 0.93 0.93 0.929 0.935304 0.8877 0.9464 0.9352 0.9955 0.8916 0.87 0.94 0.92 0.99 0.9088 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941981 NA NA 0.897558 0.977985 NA 0.826 NA 2.9726086 1355 17 15604444 15604444 A G intronic ZNF286A NA NA NA intronic ENSG00000187607,ENSG00000255104 NA NA NA NA NA 17p12 NA NA NA NA rs4792655 0.53 0.53 0.503 NA NA NA NA NA NA 0.55 0.61 0.51 0.45 0.5122 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719035 NA NA 0.515465 0.454607 NA 0.341 NA 2.972335 1355 19 48551546 48551546 A T UTR3 PLA2G4C NM_001159322:c.*54T>A,NM_003706:c.*54T>A,NM_001159323:c.*139T>A NA NA UTR3 ENSG00000105499 ENST00000599111:c.*54T>A,ENST00000354276:c.*139T>A NA NA NA NA 19q13.33 NA NA NA NA rs9226 0.69 0.69 0.687 0.69369 0.6909 0.8978 0.6931 0.5061 0.7403 0.69 0.89 0.64 0.5 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578442 1.578442 NA 0.670647 0.564306 NA 0.696 NA 2.9717864 1355 12 132399065 132399065 T G intronic ULK1 NA NA NA intronic ENSG00000177169 NA NA NA NA NA 12q24.33 NA NA NA NA rs12303764 0.24 0.24 0.2 0.201677 0.3598 0.2103 0.2464 0.0159 0.2495 0.36 0.21 0.28 0.04 0.3078 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293122 NA NA 0.361137 0.077151 NA 0.239 NA 2.971263 1355 6 81265495 81265495 C A intergenic BCKDHB,FAM46A dist=209508;dist=1189952 NA NA downstream ENSG00000216352 NA NA NA NA NA 6q14.1 NA NA NA NA rs9449067 0.65 0.65 0.635 0.705072 0.5288 0.6746 0.6744 0.8744 0.7106 0.52 0.66 0.64 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.019592 NA NA NA NA NA 0.674 NA 2.9712 1355 2 113532885 113532885 G T intronic IL1A NA NA NA intronic ENSG00000115008 NA NA NA NA NA 2q13 NA NA Name=4 NA rs3783550 0.58 0.58 0.612 0.620407 0.6779 0.2946 0.5245 0.8048 0.7157 0.68 0.3 0.55 0.77 0.6512 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221175 NA NA 0.699884 0.776668 NA 0.623 NA 2.971016 1355 6 24353742 24353742 A G intronic DCDC2 NA NA NA intronic ENSG00000146038 NA NA NA NA NA 6p22.3 NA NA NA NA rs813227 0.4 0.4 0.389 0.395168 0.508 0.4127 0.4654 0.2231 0.4438 0.49 0.42 0.47 0.2 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75457 NA NA 0.521082 0.278902 NA 0.507 NA 2.970918 1355 14 100384232 100384232 A C intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA NA NA NA rs2273704 0.43 0.43 0.437 0.430511 0.3151 0.4702 0.4654 0.5469 0.3262 0.31 0.44 0.44 0.59 0.3672 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399942 NA NA 0.34686 0.493418 NA 0.478 NA 2.97084 1355 22 50696662 50696662 C T intronic MAPK12 NA NA NA intronic ENSG00000188130 NA NA NA NA NA 22q13.33 NA NA NA NA rs73187284 0.29 0.29 0.273 0.279752 0.3579 0.4058 0.219 0.0817 0.3804 0.36 0.39 0.2 0.14 0.3248 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768213 NA NA 0.346512 0.136921 NA 0.196 NA 2.970788 1355 22 50278438 50278438 A G exonic ZBED4 NA synonymous SNV ZBED4:NM_014838:exon2:c.A1128G:p.P376P exonic ENSG00000100426 NA synonymous SNV ENSG00000100426:ENST00000216268:exon2:c.A1128G:p.P376P NA NA 22q13.33 NA NA NA NA rs910798 0.92 0.92 0.923 0.934305 0.8877 0.9464 0.9323 0.9924 0.8926 0.87 0.94 0.91 0.99 0.9092 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.337382 NA NA 0.89907 0.975261 NA 0.826 NA 2.9706966 1355 1 32133737 32133737 C T intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2292988 0.37 0.37 0.331 0.317093 0.337 0.5883 0.4251 0.0862 0.2526 0.35 0.59 0.42 0.11 0.3432 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950185 NA NA 0.349661 0.125198 NA 0.254 NA 2.970139 1355 16 55909163 55909163 T C UTR5 CES5A NM_001143685:c.-30A>G,NM_145024:c.-30A>G NA NA UTR5 ENSG00000159398 ENST00000319165:c.-30A>G,ENST00000290567:c.-30A>G,ENST00000520435:c.-30A>G NA NA NA NA 16q12.2 NA NA NA NA rs7194945 0.6 0.6 0.596 0.629193 0.4334 0.7847 0.5893 0.7095 0.59 0.44 0.81 0.59 0.63 0.5108 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599922 NA NA 0.419302 0.675387 NA 0.63 NA 2.9698314 1355 12 104341398 104341398 T A intronic HSP90B1 NA NA NA intronic ENSG00000166598 NA NA NA NA NA 12q23.3 NA NA NA NA rs1165695 0.45 0.45 0.43 0.457268 0.337 0.4692 0.4611 0.6369 0.3231 0.33 0.47 0.43 0.63 0.3711 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.075194 NA NA 0.322209 0.584657 NA 0.399 NA 2.969691 1355 9 73296400 73296400 C T intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs10123161 0.33 0.33 0.302 0.339457 0.3469 0.4504 0.3746 0.2103 0.3671 0.35 0.41 0.35 0.22 0.3447 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.786692 2.786692 NA 0.338837 0.232183 NA 0.304 NA 2.969563 1355 9 97380043 97380043 G A intronic FBP1 NA NA NA intronic ENSG00000165140 NA NA NA NA NA 9q22.32 NA NA NA NA rs8192689 0.36 0.36 0.364 0.360024 0.3519 0.5615 0.2118 0.2776 0.3773 0.35 0.55 0.23 0.26 0.3446 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649968 NA NA 0.33407 0.287789 NA 0.384 NA 2.96943 1355 12 49497643 49497643 T A intronic LMBR1L NA NA NA intronic ENSG00000139636 NA NA NA NA NA 12q13.12 NA NA NA NA rs2047101 0.43 0.43 0.399 0.421526 0.333 0.6756 0.3458 0.233 0.5593 0.34 0.72 0.39 0.26 0.3764 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44483 NA NA 0.321279 0.236269 NA 0.377 NA 2.969321 1355 16 81743328 81743328 A G intronic CMIP NA NA NA intronic ENSG00000153815 NA NA NA NA NA 16q23.3 NA NA NA NA rs68116357 0.34 0.34 0.363 0.361222 0.341 0.256 0.3184 0.4576 0.3906 0.33 0.27 0.33 0.45 0.3422 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135265 NA NA 0.347548 0.415653 NA 0.377 NA 2.969252 1355 14 106369335 106369335 G A intergenic ELK2AP,KIAA0125 dist=230191;dist=14503 NA NA upstream;downstream ENSG00000211921;ENSG00000232543 NA NA NA NA NA 14q32.33 NA NA NA NA rs2857353 0.27 0.27 0.296 0.275559 0.5308 0.0714 0.3069 0.2216 0.274 0.46 0.07 0.32 0.17 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.955123 NA NA NA NA NA 0.094 NA 2.9692 1355 17 64737717 64737717 T A intronic PRKCA NA NA NA intronic ENSG00000154229 NA NA NA NA NA 17q24.2 NA NA NA NA rs3803821 0.56 0.56 0.53 0.546725 0.508 0.5337 0.5476 0.7012 0.3906 0.51 0.5 0.56 0.69 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26609 NA NA 0.523256 0.71604 NA 0.529 NA 2.968744 1355 14 104470686 104470686 G A intronic TDRD9 NA NA NA intronic ENSG00000156414 NA NA NA NA NA 14q32.33 NA NA NA NA rs28391043 0.32 0.32 0.33 0.319089 0.3469 0.3393 0.3444 0.2731 0.3139 0.35 0.33 0.31 0.27 0.3488 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587234 NA NA 0.335814 0.299365 NA 0.297 NA 2.968486 1355 3 58417416 58417416 C T intronic PDHB NA NA NA intronic ENSG00000168291 NA NA NA NA NA 3p14.3 NA NA NA NA rs62259772 0.23 0.23 0.245 0.204673 0.3757 0.001 0.2839 0.2133 0.1708 0.36 NA 0.3 0.25 0.2832 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915633 NA NA 0.372674 0.21448 NA 0.319 NA 2.968426 1355 11 125617317 125617317 A G intronic PATE1 NA NA NA intronic ENSG00000171053 NA NA NA NA NA 11q24.2 NA NA NA NA rs496459 0.3 0.3 0.298 0.303315 0.336 0.256 0.3055 0.2874 0.3384 0.34 0.26 0.3 0.28 0.3415 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862761 NA NA 0.354268 0.298046 NA 0.406 NA 2.968232 1355 4 39259190 39259190 A G intronic WDR19 NA NA NA intronic ENSG00000157796 NA NA NA NA NA 4p14 NA NA NA NA rs11096987 0.28 0.28 0.278 0.28115 0.341 0.1617 0.2478 0.3533 0.2689 0.33 0.16 0.23 0.36 0.3711 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275566 NA NA 0.31997 0.336848 NA 0.326 NA 2.96793 1355 6 44107365 44107365 G A intronic TMEM63B NA NA NA intronic ENSG00000137216 NA NA NA NA NA 6p21.1 NA NA NA NA rs41282654 0.26 0.26 0.254 0.250998 0.34 0.0427 0.3372 0.3177 0.2229 0.34 0.05 0.36 0.3 0.3182 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.21126 2.21126 NA 0.374535 0.319564 NA 0.377 NA 2.967265 1355 2 173344474 173344474 A G intronic ITGA6 NA NA NA intronic ENSG00000091409 NA NA NA NA NA 2q31.1 NA NA NA NA rs1920979 0.37 0.37 0.366 0.407149 0.3111 0.3512 0.317 0.5287 0.4632 0.31 0.34 0.36 0.5 0.371 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26392 NA NA 0.351279 0.519065 NA 0.493 NA 2.966621 1355 17 41352643 41352643 C T intronic NBR1 NA NA NA intronic ENSG00000188554 NA NA NA NA NA 17q21.31 NA NA NA NA rs35995789 0.3 0.3 0.257 0.336262 0.3588 0.371 0.3631 0.1566 0.501 0.36 0.33 0.38 0.13 0.3453 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.657037 1.657037 NA 0.329564 0.185587 NA 0.254 NA 2.966336 1355 19 54197761 54197761 T C upstream;downstream MIR519B;MIR526B NA NA NA upstream;downstream ENSG00000207825;ENSG00000207580 NA NA NA NA NA 19q13.42 NA NA NA NA rs10415265 0.25 0.25 0.256 0.254792 0.2356 0.0704 0.1844 0.5144 0.1636 0.23 0.05 0.2 0.53 0.2251 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.085003 NA NA 0.239671 0.475128 NA 0.319 NA 2.9662956 1355 19 54198559 54198559 A G downstream MIR519B,MIR526B NA NA NA downstream ENSG00000207580,ENSG00000207825 NA NA NA NA NA 19q13.42 NA NA NA NA rs10420348 0.25 0.25 0.25 0.254792 0.2356 0.0704 0.1844 0.5144 0.1636 0.23 0.05 0.2 0.53 0.225 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781385 NA NA 0.23995 0.481505 NA 0.319 NA 2.9661166 1355 12 58018979 58018979 C T intronic SLC26A10 NA NA NA intronic ENSG00000135502 NA NA NA NA NA 12q13.3 NA NA NA NA rs1871417 0.44 0.44 0.439 0.463259 0.3181 0.5804 0.366 0.4334 0.6012 0.34 0.64 0.34 0.44 0.4035 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878751 NA NA 0.312326 0.427826 NA 0.428 NA 2.966074 1355 12 666943 666943 A G intronic B4GALNT3 NA NA NA intronic ENSG00000139044 NA NA NA NA NA 12p13.33 NA NA NA NA rs7300933 0.34 0.34 0.329 0.326677 0.338 0.3264 0.2334 0.3608 0.3354 0.35 0.35 0.23 0.4 0.3447 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01824 NA NA 0.351512 0.324784 NA 0.355 NA 2.965788 1355 10 104184981 104184981 A G intronic CUEDC2 NA NA NA intronic ENSG00000107874 NA NA NA NA NA 10q24.32 NA NA NA NA rs11593146 0.26 0.26 0.232 0.284545 0.3569 0.1845 0.353 0.1362 0.4652 0.34 0.19 0.37 0.14 0.3419 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.174989 5.174989 NA 0.335436 0.14713 NA 0.312 NA 2.965764 1355 3 58368449 58368449 T C intronic PXK NA NA NA intronic ENSG00000168297 NA NA NA NA NA 3p14.3 NA NA NA NA rs11917591 0.23 0.23 0.23 0.200479 0.3767 0.001 0.2839 0.1959 0.1718 0.36 NA 0.3 0.22 0.2854 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009616 NA NA 0.372558 0.205629 NA 0.319 NA 2.965342 1355 19 40408146 40408146 G A intronic FCGBP NA NA NA intronic ENSG00000090920 NA NA NA NA NA 19q13.2 NA NA NA NA rs56186636 0.28 0.28 0.208 0.244409 0.3598 0.2163 0.4049 0.0741 0.271 0.37 0.22 0.41 0.12 0.3243 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260281 NA NA 0.350896 0.110304 NA 0.246 NA 2.965004 1356 2 37586681 37586681 A G intronic QPCT NA NA NA intronic ENSG00000115828 NA NA NA NA NA 2p22.2 NA NA NA NA rs2302651 0.45 0.45 0.479 0.5002 0.3101 0.4137 0.4539 0.7784 0.4417 0.3 0.38 0.49 0.74 0.3998 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590971 NA NA 0.325814 0.696185 NA 0.341 NA 2.964286 1356 15 40330629 40330629 C T intronic SRP14 NA NA NA intronic ENSG00000140319 NA NA NA NA NA 15q15.1 NA NA Name=52 NA rs8041057 0.48 0.48 0.467 0.454673 0.7028 0.2738 0.4755 0.2882 0.5961 0.71 0.3 0.58 0.28 0.6116 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.43264 2.43264 NA 0.72153 0.394359 NA 0.464 NA 2.96407 1356 14 72944943 72944943 T G intronic RGS6 NA NA NA intronic ENSG00000182732 NA NA NA NA NA 14q24.2 NA NA NA NA rs2239277 0.43 0.43 0.399 0.384585 0.339 0.6359 0.3501 0.326 0.2761 0.34 0.69 0.34 0.31 0.3684 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848852 NA NA 0.328797 0.332274 NA 0.442 NA 2.963803 1356 10 50902684 50902684 C T UTR3 C10orf53 NM_001042427:c.*36C>T NA NA UTR3 ENSG00000178645 ENST00000374113:c.*680C>T,ENST00000374111:c.*36C>T NA NA NA NA 10q11.23 NA NA NA NA rs1055421 0.37 0.37 0.365 0.355431 0.4751 0.1409 0.3732 0.3691 0.4223 0.5 0.16 0.36 0.4 0.4296 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148422 NA NA 0.465299 0.361262 NA 0.486 NA 2.9633344 1356 14 100363671 100363671 G C intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA NA NA NA rs2273707 0.48 0.48 0.036 0.555511 0.4702 0.5903 0.5548 0.6876 0.4294 0.4 0.49 0.49 0.59 0.5266 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921302 NA NA 0.039884 0.08443 NA NA NA 2.963316 1356 14 107057350 107057350 A C intergenic LINC00221,NONE dist=105821;dist=NONE NA NA downstream ENSG00000253689 NA NA NA NA NA 14q32.33 NA NA NA NA rs6576194 0.51 0.51 0.471 0.581869 0.5368 0.505 0.5187 0.6044 0.7219 0.5 0.49 0.47 0.56 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077893 NA NA NA NA NA 0.457 NA 2.9632 1356 12 53295058 53295058 G C intronic KRT8 NA NA NA intronic ENSG00000170421 NA NA NA NA NA 12q13.13 NA NA NA NA rs5019800 0.54 0.54 0.54 0.567292 0.5318 0.6042 0.6167 0.3986 0.7587 0.51 0.64 0.57 0.46 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100804 NA NA 0.505028 0.415462 NA 0.391 NA 2.963172 1356 2 48956431 48956431 T A intronic LHCGR,STON1-GTF2A1L NA NA NA intronic ENSG00000068781,ENSG00000138039,ENSG00000242441 NA NA NA NA NA 2p16.3 NA NA NA NA rs11892719 0.62 0.62 0.625 0.605232 0.5378 0.63 0.6513 0.8147 0.3333 0.53 0.62 0.64 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088517 NA NA 0.499057 0.768786 NA 0.667 NA 2.963143 1356 10 116044587 116044587 C T intronic VWA2 NA NA NA intronic ENSG00000165816 NA NA NA NA NA 10q25.3 NA NA NA NA rs10787521 0.38 0.38 0.388 0.416534 0.2942 0.4454 0.33 0.503 0.4571 0.3 0.46 0.29 0.46 0.4599 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774228 NA NA 0.28314 0.461591 NA 0.319 NA 2.96276 1356 3 123047478 123047478 A G intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs9855635 0.25 0.25 0.244 0.215256 0.3628 0.244 0.1931 0.0953 0.2117 0.38 0.22 0.21 0.11 0.3044 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070468 NA NA 0.370581 0.130504 NA 0.275 NA 2.962219 1356 6 31351887 31351887 C A intergenic HLA-B,MICA dist=26898;dist=19484 NA NA intergenic ENSG00000225851,ENSG00000272221 dist=1822;dist=10179 NA NA NA NA 6p21.33 NA NA NA NA rs2507976 0.4 0.4 0.411 0.416534 0.3718 0.2024 0.4366 0.6717 0.3241 0.34 0.23 0.43 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456041 NA NA NA NA NA 0.435 NA 2.9615334 1356 16 28883841 28883841 C T intronic SH2B1 NA NA NA intronic ENSG00000178188 NA NA NA NA NA 16p11.2 NA NA NA NA rs62037369 0.22 0.22 0.178 0.19369 0.328 0.1161 0.4654 0.0136 0.1861 0.34 0.13 0.38 0.01 0.3313 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.09288 NA NA 0.379419 0.085116 NA 0.123 NA 2.961281 1356 1 237957309 237957309 A C intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs790900 0.74 0.74 0.717 0.750799 0.6431 0.9494 0.7925 0.5772 0.862 0.65 0.96 0.76 0.62 0.7273 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.684462 1.684462 NA 0.668426 0.601385 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036685.1;CLNDSDB=.;CLNDSDBID=. 2.961174 1356 3 111985048 111985048 G A intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs4682099 0.33 0.33 0.336 0.313898 0.3588 0.4345 0.3084 0.1399 0.3824 0.36 0.47 0.29 0.15 0.3332 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287155 NA NA 0.347112 0.165229 NA 0.304 NA 2.960888 1356 17 41331460 41331460 G A intronic NBR1 NA NA NA intronic ENSG00000188554 NA NA NA NA NA 17q21.31 NA NA NA NA rs11653231 0.32 0.32 0.291 0.352835 0.3598 0.371 0.3732 0.2133 0.501 0.36 0.33 0.39 0.21 0.354 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466599 NA NA 0.325965 0.229258 ID=COSN165433;OCCURENCE=1(breast) 0.275 NA 2.960235 1356 3 111958862 111958862 C A intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs13089635 0.33 0.33 0.335 0.313898 0.3588 0.4345 0.3084 0.1399 0.3824 0.36 0.47 0.29 0.15 0.3345 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.870299 1.870299 NA 0.346628 0.164548 NA 0.319 NA 2.960072 1356 7 142481376 142481376 T A exonic PRSS2 NA unknown UNKNOWN ncRNA_exonic ENSG00000250606 NA NA NA NA NA 7q34 NA NA NA NA rs73740310 0.59 0.59 0.882 0.938898 0.996 0.996 0.9798 0.7882 0.9959 0.69 0.37 0.71 0.6 0.8774 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49024 NA NA NA NA NA 0.804 NA 2.9599333 1356 19 17091533 17091533 C T intronic CPAMD8 NA NA NA intronic ENSG00000160111 NA NA NA NA NA 19p13.11 NA NA NA NA rs8100517 0.48 0.48 0.529 0.485024 0.3509 0.5506 0.3602 0.6876 0.3701 0.36 0.55 0.37 0.69 0.3738 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4079 NA NA 0.315904 0.597611 NA 0.406 NA 2.959396 1356 9 91661746 91661746 C G intronic SHC3 NA NA NA intronic ENSG00000148082 NA NA NA NA NA 9q22.1 NA NA NA NA rs7022911 0.35 0.35 0.352 0.340256 0.3419 0.0109 0.4006 0.6936 0.1575 0.36 0.01 0.4 0.67 0.3416 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82409 NA NA 0.357442 0.62778 NA 0.326 NA 2.959058 1356 19 15789257 15789257 T C intronic CYP4F12 NA NA NA intronic ENSG00000186204 NA NA NA NA NA 19p13.12 NA NA NA NA rs34521056 0.61 0.61 0.569 NA NA NA NA NA NA 0.49 0.74 0.59 0.66 0.5596 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531136 NA NA 0.481736 0.650935 NA 0.522 NA 2.958664 1356 1 112237915 112237915 A T intronic RAP1A NA NA NA intronic ENSG00000116473 NA NA NA NA NA 1p13.2 NA NA NA NA rs7525307 0.33 0.33 0.301 0.322684 0.337 0.4375 0.3285 0.1641 0.3998 0.32 0.44 0.37 0.16 0.3599 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09865 NA NA 0.344502 0.19078 NA 0.297 NA 2.958598 1356 5 5303614 5303614 C T intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs11134110 0.33 0.33 0.33 0.311102 0.3638 0.5218 0.2565 0.0825 0.3875 0.38 0.5 0.29 0.08 0.3466 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04266 NA NA 0.331009 0.113409 NA 0.326 NA 2.958591 1356 1 170511604 170511604 T C intronic GORAB NA NA NA intronic ENSG00000120370 NA NA NA NA NA 1q24.2 NA NA NA NA rs7538037 0.36 0.36 0.348 0.369808 0.3211 0.6776 0.3761 0.0454 0.5368 0.32 0.66 0.36 0.06 0.3837 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.61519 2.61519 NA 0.336668 0.091054 NA 0.283 NA 2.958532 1356 7 50571779 50571779 G A intronic DDC NA NA NA intronic ENSG00000132437 NA NA NA NA NA 7p12.1 NA NA NA NA rs11575375 0.32 0.32 0.338 0.324481 0.3797 0.1062 0.3444 0.4228 0.3456 0.37 0.14 0.31 0.46 0.3334 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466346 NA NA 0.328372 0.433727 ID=COSN168054;OCCURENCE=1(large_intestine) 0.413 NA 2.958528 1356 3 53779825 53779825 A G intronic CACNA1D NA NA NA intronic ENSG00000157388 NA NA NA NA NA 3p21.1 NA NA NA NA rs3821860 0.22 0.22 0.222 0.232228 0.3459 0.1528 0.2493 0.146 0.3016 0.35 0.12 0.25 0.13 0.3194 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741934 NA NA 0.376395 0.191784 NA 0.21 NA 2.958305 1356 19 985997 985997 C G intronic WDR18 NA NA NA intronic ENSG00000065268 NA NA NA NA NA 19p13.3 NA Name=USF-1 NA NA rs2074574 0.55 0.55 0.538 0.557708 0.7247 0.4028 0.5317 0.5703 0.547 0.73 0.35 0.52 0.55 0.6307 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926746 NA NA 0.686395 0.564685 NA 0.558 NA 2.958205 1356 9 139649580 139649580 G A intronic LCN8 NA NA NA intronic ENSG00000204001 NA NA NA NA NA 9q34.3 NA NA Name=6 NA rs879467 0.59 0.59 0.588 0.540136 0.6909 0.7133 0.549 0.2867 0.5429 0.67 0.73 0.58 0.3 0.6704 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.593542 NA NA 0.6805 0.368687 NA 0.609 NA 2.9582 1356 2 15768981 15768981 C G intronic DDX1 NA NA NA intronic ENSG00000079785 NA NA NA NA NA 2p24.3 NA NA NA NA rs62122280 0.2 0.2 0.154 0.158347 0.3887 0.0149 0.2939 0.0144 0.1677 0.4 0.01 0.33 0.03 0.2895 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728108 NA NA 0.363689 0.073536 NA 0.196 NA 2.958111 1356 14 23887645 23887645 T C intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs7159367 0.34 0.34 0.36 0.351238 0.3429 0.0952 0.2378 0.7171 0.2096 0.32 0.08 0.28 0.71 0.336 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456791 NA NA 0.363425 0.671435 NA 0.464 NA 2.957675 1356 8 81905314 81905314 A C intronic PAG1 NA NA NA intronic ENSG00000076641 NA NA NA NA NA 8q21.13 NA NA NA NA rs2016459 0.49 0.49 0.499 0.521565 0.329 0.499 0.3141 0.8608 0.4315 0.33 0.52 0.35 0.84 0.3905 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099906 NA NA 0.322907 0.742397 NA 0.449 NA 2.957593 1356 19 11168896 11168896 A G intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs8104480 0.33 0.33 0.261 0.387181 0.3638 0.1607 0.2305 0.5915 0.4796 0.36 0.13 0.28 0.56 0.3461 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627109 NA NA 0.332984 0.526328 NA 0.428 NA 2.957116 1356 21 43281651 43281651 C G intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs7280316 0.36 0.36 0.397 0.372404 0.3459 0.3036 0.3372 0.4599 0.3773 0.35 0.32 0.33 0.47 0.3604 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256362 NA NA 0.336744 0.428507 NA 0.377 NA 2.956956 1356 8 52028849 52028849 G T intergenic SNTG1,PXDNL dist=323422;dist=203288 NA NA intergenic ENSG00000201316,ENSG00000253664 dist=101124;dist=141399 NA NA NA NA 8q11.21 NA NA NA NA rs4873179 0.45 0.45 0.461 0.502596 0.3767 0.3681 0.4366 0.6778 0.5808 0.36 0.39 0.43 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308668 NA NA NA NA NA 0.558 NA 2.9566334 1356 20 3759528 3759528 C T intronic SPEF1 NA NA NA intronic ENSG00000101222 NA NA NA NA NA 20p13 NA NA NA NA rs2281478 0.53 0.53 0.513 0.509984 0.498 0.623 0.5576 0.4592 0.4407 0.5 0.62 0.53 0.49 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.441831 NA NA 0.545569 0.464595 NA 0.551 NA 2.956431 1356 10 123681962 123681962 T C intronic ATE1 NA NA NA intronic ENSG00000107669 NA NA NA NA NA 10q26.13 NA NA NA NA rs10887023 0.28 0.28 0.256 0.286342 0.3221 0.2996 0.3617 0.0893 0.4489 0.33 0.32 0.39 0.09 0.3825 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105055 NA NA 0.339055 0.124018 NA 0.341 NA 2.956345 1356 9 102713591 102713591 T C intronic STX17 NA NA NA intronic ENSG00000136874 NA NA NA NA NA 9q31.1 NA NA NA NA rs3739794 0.47 0.47 0.451 0.453275 0.3221 0.7202 0.415 0.447 0.3487 0.34 0.72 0.41 0.42 0.3936 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6676 NA NA 0.328797 0.416704 NA 0.333 NA 2.955503 1356 22 40708679 40708679 T C intronic TNRC6B NA NA NA intronic ENSG00000100354 NA NA NA NA NA 22q13.1 NA NA NA NA rs2072858 0.35 0.35 0.304 0.347444 0.33 0.4375 0.5086 0.121 0.4642 0.34 0.45 0.48 0.13 0.3807 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274608 NA NA 0.333975 0.165986 NA 0.384 NA 2.955325 1356 6 42924041 42924041 C T intergenic CNPY3,GNMT dist=17033;dist=4459 NA NA downstream ENSG00000181524 NA NA NA NA NA 6p21.1 NA NA NA NA rs112122607 0.48 0.48 0.429 0.494609 0.5447 0.1716 0.428 0.7632 0.4601 0.55 0.19 0.43 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083353 NA NA NA NA NA 0.587 NA 2.9553 1356 22 23101559 23101559 G T intergenic GGTLC2,MIR650 dist=111191;dist=63711 NA NA exonic ENSG00000211666 NA nonsynonymous SNV ENSG00000211666:ENST00000390312:exon2:c.G213T:p.E71D NA NA 22q11.22 NA NA NA NA rs4134484 0.7 0.7 0.652 0.710863 0.6342 0.8621 0.7435 0.6619 0.6769 0.63 0.85 0.71 0.63 0.6478 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.354458 NA 0.83 0.596144 0.607009 ID=COSN229356;OCCURENCE=1(skin) 0.514 NA 2.9551894 1356 20 33894463 33894463 A G intronic UQCC NA NA NA UTR3 ENSG00000101019 ENST00000542501:c.*193T>C NA NA NA NA 20q11.22 NA NA NA NA rs878639 0.43 0.43 0.446 0.496206 0.3847 0.2808 0.2954 0.7859 0.5838 0.4 0.25 0.33 0.76 0.4325 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.641813 NA NA 0.394302 0.697912 NA 0.493 NA 2.9551647 1356 4 153881835 153881835 C T intronic FHDC1 NA NA NA intronic ENSG00000137460 NA NA NA NA NA 4q31.3 NA NA NA NA rs3811834 0.35 0.35 0.303 0.339058 0.3449 0.495 0.4107 0.0946 0.4519 0.35 0.51 0.43 0.09 0.3538 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934789 NA NA 0.346163 0.145256 NA 0.188 NA 2.955137 1357 5 145252574 145252574 C T upstream GRXCR2 NA NA NA upstream ENSG00000204928 NA NA NA Score=304;Name=lod=23 NA 5q32 NA NA NA NA rs10037373 0.62 0.62 0.613 0.649161 0.5467 0.7212 0.6902 0.6112 0.7025 0.54 0.7 0.64 0.63 0.6178 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124801 NA NA 0.547209 0.596913 NA 0.674 NA 2.9549576 1357 1 15834297 15834297 G A intronic CASP9 NA NA NA intronic ENSG00000132906 NA NA NA NA NA 1p36.21 NA NA NA NA rs2020903 0.6 0.6 0.595 0.584265 0.5149 0.6538 0.4986 0.739 0.4356 0.54 0.63 0.5 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133497 NA NA 0.53017 0.703757 ID=COSN162962;OCCURENCE=1(breast) 0.449 NA 2.95493 1357 14 100363672 100363672 A G intronic EML1 NA NA NA intronic ENSG00000066629 NA NA NA NA NA 14q32.2 NA NA NA NA rs2273706 0.48 0.48 0.088 0.557508 0.4702 0.5913 0.5576 0.6921 0.4305 0.39 0.49 0.49 0.6 0.527 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527979 NA NA 0.048256 0.103495 NA NA NA 2.954544 1357 16 28837203 28837203 T G intronic ATXN2L NA NA NA intronic ENSG00000168488 NA NA NA NA NA 16p11.2 NA NA NA NA rs62036622 0.22 0.22 0.186 0.197684 0.33 0.1161 0.4669 0.0265 0.1861 0.34 0.13 0.39 0.02 0.3315 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43719 NA NA 0.38407 0.095585 ID=COSN165164;OCCURENCE=1(breast) 0.123 NA 2.95443 1357 12 52864240 52864240 G T intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA NA NA NA rs415580 0.33 0.33 0.323 0.2502 0.3628 0.4812 0.2651 0.0242 0.1912 0.36 0.56 0.32 0.04 0.3153 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096432 NA NA 0.367558 0.07172 NA 0.362 NA 2.954342 1357 2 228996672 228996672 G A intronic SPHKAP NA NA NA intronic ENSG00000153820 NA NA NA NA NA 2q36.3 NA NA NA NA rs4585022 0.37 0.37 0.324 0.347045 0.339 0.4901 0.5173 0.2254 0.2515 0.33 0.47 0.49 0.22 0.3523 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689755 NA NA 0.354535 0.239446 NA 0.312 NA 2.954165 1357 12 52865548 52865548 G C intronic KRT6C NA NA NA intronic ENSG00000170465 NA NA NA NA NA 12q13.13 NA NA NA NA rs28759265 0.33 0.33 0.3 0.2498 0.3628 0.4812 0.2651 0.0242 0.1892 0.36 0.56 0.32 0.04 0.3153 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638547 NA NA 0.367791 0.07172 NA 0.355 NA 2.954109 1357 6 70944465 70944465 A G intronic COL9A1 NA NA NA ncRNA_intronic ENSG00000253809 NA NA NA NA NA 6q13 NA NA NA NA rs12191701 0.25 0.25 0.253 0.21865 0.497 0.0427 0.2334 0.0961 0.2689 0.49 0.04 0.26 0.13 0.3813 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.274537 NA NA 0.501512 0.157059 NA 0.333 NA 2.9535213 1357 3 97916050 97916050 A C intergenic OR5H15,OR5H6 dist=27565;dist=67079 NA NA upstream ENSG00000249321 NA NA NA NA NA 3q11.2 NA NA NA NA rs11706357 0.58 0.58 0.574 0.591853 0.5467 0.494 0.5029 0.7731 0.5573 0.54 0.55 0.46 0.75 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361712 NA NA NA NA NA 0.449 NA 2.9533 1357 9 112918581 112918581 T C intronic AKAP2,PALM2-AKAP2 NA NA NA intronic ENSG00000157654,ENSG00000241978 NA NA NA Score=463;Name=lod=102 NA 9q31.3 NA NA NA NA rs7862044 0.81 0.81 0.815 0.794129 0.668 0.9702 0.7406 0.829 0.7331 0.69 0.97 0.7 0.87 0.7236 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.504229 3.504229 NA 0.655581 0.815025 NA 0.877 NA 2.952819 1357 6 30883920 30883920 C T intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264299 0.24 0.24 0.23 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3203 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.256089 2.256089 NA 0.371512 0.139809 NA 0.275 NA 2.952288 1357 19 7506668 7506668 T G intronic ARHGEF18 NA NA NA intronic ENSG00000104880,ENSG00000268861 NA NA NA NA NA 19p13.2 NA NA NA NA rs2287909 0.36 0.36 0.33 0.371206 0.332 0.4216 0.4107 0.289 0.4427 0.32 0.4 0.4 0.35 0.362 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412385 NA NA 0.353837 0.311394 ID=COSN165705;OCCURENCE=1(breast) 0.413 NA 2.952163 1357 21 37583804 37583804 C T intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA NA NA rs2239568 0.32 0.32 0.31 0.328275 0.337 0.4851 0.3098 0.1135 0.4611 0.34 0.47 0.33 0.11 0.3535 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670997 NA NA 0.357442 0.169768 NA 0.239 NA 2.952058 1357 9 96392371 96392371 G A intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA NA NA 9q22.31 NA NA NA NA rs10992813 0.26 0.26 0.23 0.196685 0.3668 0.2877 0.2651 0.0151 0.1247 0.38 0.29 0.28 0.02 0.3011 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916853 NA NA 0.380233 0.075579 NA 0.283 NA 2.951867 1357 6 30889120 30889120 A G intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs2532943 0.24 0.24 0.246 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3223 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056342 NA NA 0.369995 0.139419 NA 0.283 NA 2.951805 1357 4 942006 942006 G A intronic TMEM175 NA NA NA intronic ENSG00000127419 NA NA NA NA NA 4p16.3 NA NA NA NA rs2290403 0.3 0.3 0.301 0.291933 0.3509 0.1984 0.2824 0.3434 0.2648 0.34 0.21 0.31 0.33 0.3306 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00049 NA NA 0.367065 0.352601 NA 0.326 NA 2.951435 1357 7 142045449 142045449 A G intergenic LOC730441,MTRNR2L6 dist=73381;dist=328682 NA NA intronic ENSG00000211745 NA NA NA NA NA 7q34 NA NA NA NA rs371824542 NA NA 0.252 NA NA NA NA NA NA NA NA NA NA 0.3318 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364226 NA NA 0.383568 0.267911 NA 0.232 NA 2.9512987 1357 3 108682218 108682218 A G intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 NA NA NA NA rs2715755 0.3 0.3 0.311 0.313099 0.3678 0.1071 0.245 0.4206 0.3722 0.37 0.08 0.3 0.43 0.3276 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244548 NA NA 0.353304 0.437557 NA 0.384 NA 2.951296 1357 12 29486745 29486745 T C UTR3 FAR2 NM_001271783:c.*18T>C,NM_018099:c.*18T>C,NM_001271784:c.*18T>C NA NA UTR3 ENSG00000064763 ENST00000536681:c.*18T>C,ENST00000182377:c.*18T>C,ENST00000547116:c.*18T>C,ENST00000547759:c.*217T>C NA NA NA NA 12p11.22 NA NA NA NA rs1052583 0.45 0.45 0.445 0.44349 0.4742 0.5754 0.3545 0.3601 0.4519 0.47 0.54 0.35 0.39 0.441 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994865 NA NA 0.467442 0.369496 NA 0.435 NA 2.9506914 1357 3 97926221 97926221 T C intergenic OR5H15,OR5H6 dist=37736;dist=56908 NA NA upstream ENSG00000249975 NA NA NA NA NA 3q11.2 NA NA NA NA rs7430016 0.61 0.61 0.618 0.627995 0.5497 0.494 0.5187 0.8979 0.5593 0.54 0.56 0.49 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535118 NA NA NA NA NA 0.565 NA 2.9503 1357 3 97940801 97940801 C T intergenic OR5H15,OR5H6 dist=52316;dist=42328 NA NA upstream ENSG00000248507 NA NA NA NA NA 3q11.2 NA NA NA NA rs4857350 0.62 0.62 0.652 0.621206 0.5497 0.494 0.5144 0.8744 0.5593 0.55 0.56 0.49 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846148 NA NA NA NA NA 0.536 NA 2.9503 1357 3 97940846 97940846 C T intergenic OR5H15,OR5H6 dist=52361;dist=42283 NA NA upstream ENSG00000248507 NA NA NA NA NA 3q11.2 NA NA NA NA rs4857351 0.62 0.62 0.652 0.620807 0.5497 0.494 0.5144 0.8737 0.5583 0.55 0.56 0.49 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95063 NA NA NA NA NA 0.565 NA 2.9503 1357 14 107160325 107160325 G A intergenic LINC00221,NONE dist=208796;dist=NONE NA NA upstream ENSG00000253703 NA NA NA NA NA 14q32.33 NA NA NA NA rs4387508 0.63 0.63 0.655 0.674521 0.5497 0.5109 0.5231 0.9516 0.7045 0.55 0.48 0.57 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630395 NA NA NA NA NA 0.703 NA 2.9503 1357 15 42170499 42170499 T G intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA Name=GATA3_(SC-268),ERalpha_a NA NA rs1201690 0.81 0.81 0.799 0.808307 0.659 0.9712 0.7738 0.857 0.7526 0.67 0.98 0.78 0.84 0.7286 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703454 NA NA 0.662191 0.826913 NA 0.768 NA 2.950209 1357 2 239184581 239184581 G A intronic PER2 NA NA NA intronic ENSG00000132326 NA NA NA NA NA 2q37.3 NA NA NA NA rs10462023 0.22 0.22 0.205 0.225639 0.3628 0.2292 0.2522 0.0393 0.3139 0.34 0.21 0.23 0.06 0.3142 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379559 NA NA 0.372907 0.092828 NA 0.304 NA 2.950093 1357 3 111870228 111870228 C T intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs6781137 0.33 0.33 0.333 0.313099 0.3579 0.4335 0.3098 0.1392 0.3804 0.36 0.47 0.29 0.15 0.3349 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266706 NA NA 0.357107 0.162671 NA 0.319 NA 2.950093 1357 2 29543663 29543663 T C exonic ALK NA synonymous SNV ALK:NM_004304:exon7:c.A1500G:p.Q500Q exonic ENSG00000171094 NA synonymous SNV ENSG00000171094:ENST00000389048:exon7:c.A1500G:p.Q500Q NA NA 2p23.2 NA NA NA NA rs2293564 0.8 0.8 0.778 0.776558 0.9235 0.9206 0.8847 0.4334 0.864 0.92 0.92 0.88 0.43 0.8716 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.61167 NA NA 0.922209 0.534725 NA 0.761 NA 2.9493576 1357 1 10322054 10322054 G A intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs4846209 0.37 0.37 0.342 0.339856 0.3579 0.3472 0.3833 0.3411 0.2812 0.35 0.37 0.4 0.35 0.3446 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192362 NA NA 0.348837 0.332274 NA 0.326 NA 2.948663 1357 19 11107133 11107133 T C intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs2304087 0.3 0.3 0.316 0.332268 0.3569 0.2659 0.2118 0.326 0.4693 0.34 0.26 0.27 0.32 0.3465 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189709 NA NA 0.34814 0.315025 NA 0.246 NA 2.94846 1357 14 100803364 100803364 A G intronic WARS NA NA NA ncRNA_intronic ENSG00000258666 NA NA NA NA NA 14q32.2 NA NA Name=7 NA rs2234530 0.76 0.76 0.752 0.777756 0.8072 0.87 0.8631 0.6051 0.8252 0.78 0.85 0.82 0.59 0.7943 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349621 NA NA 0.783488 0.628007 NA 0.717 NA 2.9483453 1357 12 70949620 70949620 G A intronic PTPRB NA NA NA intronic ENSG00000127329 NA NA NA NA NA 12q15 NA NA NA NA rs2278341 0.31 0.31 0.326 0.309704 0.3449 0.1905 0.2176 0.4017 0.3374 0.35 0.21 0.23 0.41 0.3476 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.180778 NA NA 0.359559 0.387519 NA 0.275 NA 2.947941 1357 8 144894496 144894496 G A exonic SCRIB NA synonymous SNV SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T exonic ENSG00000180900 NA synonymous SNV ENSG00000180900:ENST00000320476:exon9:c.C846T:p.T282T,ENSG00000180900:ENST00000356994:exon9:c.C846T:p.T282T,ENSG00000180900:ENST00000377533:exon9:c.C603T:p.T201T NA NA 8q24.3 NA NA NA NA rs4875060 0.9 0.9 0.886 0.904553 0.8976 0.9752 0.9251 0.7988 0.9673 0.9 0.98 0.89 0.82 0.9135 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.277521 NA NA 0.907791 0.815025 NA 0.906 NA 2.9477756 1357 14 100158241 100158241 C T intronic CYP46A1 NA NA NA ncRNA_intronic ENSG00000258672 NA NA NA NA NA 14q32.2 NA NA NA NA rs4900442 0.44 0.44 0.427 0.440296 0.4622 0.4911 0.5072 0.2995 0.5082 0.46 0.51 0.49 0.31 0.4713 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.226976 NA NA 0.452791 0.329551 NA 0.435 NA 2.9470423 1357 1 186022032 186022032 T G intronic HMCN1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs10911808 0.67 0.67 0.672 0.67472 0.5249 0.5933 0.6657 0.9546 0.5409 0.54 0.62 0.66 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504404 NA NA 0.528629 0.884132 NA 0.674 NA 2.946471 1357 11 95562327 95562327 G A intronic CEP57 NA NA NA intronic ENSG00000166037 NA NA NA NA NA 11q21 NA NA NA NA rs534488 0.27 0.27 0.268 0.204872 0.3738 0.253 0.2363 0.0734 0.137 0.37 0.28 0.28 0.09 0.297 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751596 NA NA 0.382736 0.120627 NA 0.246 NA 2.946464 1357 17 9764531 9764531 A G intronic GLP2R NA NA NA intronic ENSG00000065325 NA NA NA NA NA 17p13.1 NA NA NA NA rs2001486 0.43 0.43 0.432 0.455671 0.3429 0.2897 0.4294 0.7466 0.3681 0.34 0.28 0.42 0.76 0.372 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107292 NA NA 0.338721 0.669542 NA 0.507 NA 2.946379 1357 5 78265041 78265041 A G intronic ARSB NA NA NA intronic ENSG00000113273 NA NA NA NA NA 5q14.1 NA NA NA NA rs3733895 0.27 0.27 0.245 0.243011 0.3658 0.2232 0.3012 0.1293 0.2495 0.36 0.22 0.31 0.15 0.3203 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.234302 2.234302 NA 0.367907 0.164471 NA 0.304 NA 2.945993 1357 6 30893831 30893831 G A intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs2532938 0.24 0.24 0.224 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3214 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225382 NA NA 0.376707 0.146026 NA 0.283 NA 2.945993 1357 7 142045446 142045446 G C intergenic LOC730441,MTRNR2L6 dist=73378;dist=328685 NA NA intronic ENSG00000211745 NA NA NA NA NA 7q34 NA NA NA NA rs56060483 NA NA 0.255 NA NA NA NA NA NA NA NA NA NA 0.3315 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126324 NA NA 0.389472 0.269386 NA 0.232 NA 2.9456947 1357 2 228996650 228996650 A G intronic SPHKAP NA NA NA intronic ENSG00000153820 NA NA NA NA NA 2q36.3 NA NA NA NA rs4353646 0.39 0.39 0.345 0.367212 0.339 0.4901 0.5187 0.2867 0.271 0.33 0.47 0.49 0.3 0.36 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376287 NA NA 0.355465 0.297322 NA 0.362 NA 2.945535 1357 15 31745368 31745368 A G intergenic KLF13,OTUD7A dist=75266;dist=29961 NA NA downstream ENSG00000259696 NA NA NA NA NA 15q13.3 NA NA NA NA rs6493668 0.73 0.73 0.719 0.730232 0.5547 0.8829 0.6974 0.8381 0.6309 0.56 0.88 0.71 0.82 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352653 NA NA NA NA NA 0.775 NA 2.9453 1358 11 119004686 119004686 T A intronic HINFP NA NA NA intronic ENSG00000172273 NA NA NA NA NA 11q23.3 NA NA NA NA rs658922 0.55 0.55 0.533 0.579872 0.5288 0.8998 0.3559 0.3472 0.7761 0.52 0.88 0.4 0.32 0.5262 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094888 NA NA NA NA NA 0.536 NA 2.945 1358 8 145724275 145724275 T C intronic PPP1R16A NA NA NA ncRNA_exonic ENSG00000255182,ENSG00000261139 NA NA NA NA NA 8q24.3 NA NA NA NA rs3816732 0.39 0.39 0.335 0.405551 0.4592 0.5387 0.5 0.09 0.5726 0.46 0.48 0.52 0.09 0.466 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594427 NA NA 0.463372 0.146004 NA 0.268 NA 2.9447613 1358 7 133979545 133979545 A T UTR3 SLC35B4 NM_032826:c.*40T>A NA NA UTR3 ENSG00000205060 ENST00000378509:c.*40T>A,ENST00000416907:c.*587T>A NA NA NA NA 7q33 NA NA NA NA rs2504 0.44 0.44 0.425 0.472444 0.4642 0.2708 0.5749 0.5219 0.5491 0.48 0.27 0.55 0.52 0.4644 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.289313 1.289313 NA 0.460116 0.523377 NA 0.406 NA 2.9446174 1358 7 133979552 133979552 C T UTR3 SLC35B4 NM_032826:c.*33G>A NA NA UTR3 ENSG00000205060 ENST00000378509:c.*33G>A,ENST00000416907:c.*580G>A NA NA NA NA 7q33 NA NA NA NA rs2505 0.44 0.44 0.418 0.472444 0.4642 0.2708 0.5749 0.5219 0.5491 0.48 0.27 0.55 0.52 0.4644 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502908 NA NA 0.460116 0.523604 NA 0.406 NA 2.9446174 1358 6 30890055 30890055 T C intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs2517466 0.24 0.24 0.23 0.222045 0.3559 0.247 0.2075 0.0983 0.2362 0.35 0.28 0.2 0.06 0.3225 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.33249 1.33249 NA 0.377031 0.146026 NA 0.283 NA 2.944569 1358 9 127089775 127089775 A G intronic NEK6 NA NA NA intronic ENSG00000119408 NA NA NA NA NA 9q33.3 NA NA NA NA rs748741 0.3 0.3 0.27 0.305711 0.3419 0.1925 0.3127 0.3313 0.3456 0.34 0.19 0.34 0.33 0.3408 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596103 NA NA 0.372761 0.337494 NA 0.188 NA 2.944539 1358 5 171569 171569 T C intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA NA Name=6 NA rs4956981 0.53 0.53 0.542 0.551717 0.675 0.2827 0.5447 0.6104 0.6278 0.67 0.28 0.58 0.58 0.6665 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361238 NA NA 0.714019 0.648199 NA 0.623 NA 2.944481 1358 16 28855522 28855522 G C intronic TUFM NA NA NA intronic ENSG00000178952 NA NA NA NA NA 16p11.2 NA NA NA NA rs61737565 0.27 0.27 0.236 0.261581 0.329 0.126 0.487 0.2277 0.2178 0.34 0.13 0.41 0.21 0.3453 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.137777 NA NA 0.381512 0.271279 NA 0.159 NA 2.944188 1358 4 55968053 55968053 A C intronic KDR NA NA NA intronic ENSG00000128052 NA NA NA NA NA 4q12 NA NA NA NA rs7655964 0.33 0.33 0.264 0.292931 0.3628 0.3135 0.4957 0.1082 0.3057 0.37 0.34 0.52 0.13 0.3475 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390578 NA NA 0.345581 0.159555 NA 0.319 NA 2.944119 1358 20 44645010 44645010 C T UTR3 MMP9 NM_004994:c.*3C>T NA NA ncRNA_UTR3 ENSG00000100985 NA NA NA NA NA 20q13.12 NA NA NA NA rs20544 0.28 0.28 0.277 0.259385 0.5417 0.001 0.3372 0.1929 0.2699 0.53 0.0017 0.36 0.16 0.4329 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938714 NA NA 0.581395 0.261689 NA 0.442 NA 2.944005 1358 3 111958679 111958679 T C intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs13065023 0.33 0.33 0.328 0.313898 0.3588 0.4345 0.3084 0.1399 0.3824 0.36 0.47 0.29 0.15 0.3499 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064247 NA NA 0.347442 0.164623 NA 0.319 NA 2.943858 1358 16 28855727 28855727 A G intronic TUFM NA NA NA intronic ENSG00000178952 NA NA NA NA NA 16p11.2 NA NA NA NA rs4788099 0.27 0.27 0.241 0.261581 0.329 0.126 0.487 0.2277 0.2178 0.34 0.13 0.41 0.21 0.3454 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446782 NA NA 0.381744 0.271962 ID=COSN165169;OCCURENCE=1(breast) 0.159 NA 2.943856 1358 16 28890131 28890131 C A intronic ATP2A1 NA NA NA intronic ENSG00000196296 NA NA NA NA NA 16p11.2 NA NA NA NA rs62037371 0.27 0.27 0.244 0.261382 0.329 0.126 0.4856 0.2277 0.2178 0.34 0.13 0.4 0.21 0.3454 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058996 NA NA 0.381744 0.270369 NA 0.159 NA 2.943856 1358 17 80884247 80884247 T C intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA NA NA NA rs1078334 0.42 0.42 0.408 0.424521 0.3519 0.5268 0.3357 0.525 0.3211 0.34 0.47 0.37 0.53 0.363 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758953 NA NA 0.34151 0.474082 NA 0.471 NA 2.94359 1358 7 142045518 142045518 G A intergenic LOC730441,MTRNR2L6 dist=73450;dist=328613 NA NA intronic ENSG00000211745 NA NA NA NA NA 7q34 NA NA NA NA rs1960210 NA NA 0.26 NA NA NA NA NA NA NA NA NA NA 0.3318 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044711 NA NA 0.391639 0.270305 NA 0.239 NA 2.9432277 1358 5 32248077 32248077 C T intronic MTMR12 NA NA NA intronic ENSG00000150712 NA NA NA NA NA 5p13.3 NA NA NA NA rs11960898 0.36 0.36 0.366 0.351438 0.3549 0.4871 0.3357 0.239 0.3712 0.35 0.52 0.32 0.24 0.3645 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392253 1.392253 NA 0.337791 0.268165 NA 0.362 NA 2.942809 1358 16 28617595 28617595 A G intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA NA NA 16p11.2 NA NA NA NA rs4149393 0.27 0.27 0.21 0.290935 0.335 0.2649 0.4755 0.2284 0.226 0.33 0.2 0.36 0.2 0.3463 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334539 NA NA 0.37686 0.243286 NA 0.138 NA 2.94184 1358 16 57071232 57071232 C G intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA Name=9 NA rs1684580 0.53 0.53 NA 0.489417 0.6978 0.3929 0.5735 0.3298 0.5307 0.7 0.42 0.61 0.36 0.6139 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444501 NA NA 0.746512 0.429936 NA 0.464 NA 2.941788 1358 11 4562831 4562831 A G intergenic OR52K1,OR52M1 dist=51693;dist=3590 NA NA intergenic ENSG00000226616,ENSG00000197790 dist=25677;dist=3590 NA NA NA NA 11p15.4 NA NA NA NA rs2657172 0.35 0.35 0.36 0.346845 0.3917 0.2302 0.268 0.3858 0.4243 0.38 0.26 0.35 0.42 NA 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092468 NA NA NA NA NA 0.297 NA 2.9416334 1358 3 172347134 172347134 G A intergenic TNFSF10,NCEH1 dist=105837;dist=1301 NA NA downstream ENSG00000144959 NA NA NA NA NA 3q26.31 NA NA NA NA rs234016 0.52 0.52 0.543 0.489617 0.5586 0.3998 0.4841 0.6233 0.3344 0.54 0.39 0.52 0.64 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976944 NA NA NA NA NA 0.551 NA 2.9414 1358 4 109769844 109769844 C T intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs13130308 0.5 0.5 0.468 0.493011 0.5408 0.62 0.5793 0.1687 0.6902 0.54 0.66 0.59 0.18 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7154 NA NA 0.517913 0.236272 NA 0.464 NA 2.941287 1358 8 144654582 144654582 C A intronic MROH6 NA NA NA intronic ENSG00000204839 NA NA NA NA NA 8q24.3 NA NA Name=5 NA rs4874154 0.75 0.75 0.312 0.753195 0.7853 0.8661 0.7075 0.6399 0.7894 0.78 0.85 0.69 0.64 0.8226 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520531 1.520531 NA 0.451187 0.316149 NA 0.754 NA 2.940913 1358 13 114751040 114751040 G A intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA NA NA NA rs71449038 0.29 0.29 0.27 0.273363 0.3529 0.3413 0.3415 0.0817 0.3323 0.36 0.33 0.34 0.1 0.3398 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640677 NA NA 0.366628 0.141171 NA 0.319 NA 2.940672 1358 16 28618237 28618237 T C intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA NA NA 16p11.2 NA NA NA NA rs9282862 0.23 0.23 0.211 0.292532 0.335 0.2659 0.4769 0.2284 0.2321 0.26 0.2 0.32 0.15 0.3591 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052478 NA NA 0.365349 0.228493 NA NA NA 2.940551 1358 15 50254280 50254280 T C intronic ATP8B4 NA NA NA intronic ENSG00000104043 NA NA NA NA NA 15q21.2 NA NA NA NA rs12442430 0.4 0.4 0.388 0.336861 0.5288 0.3413 0.4049 0.1445 0.3466 0.57 0.35 0.44 0.16 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300809 1.300809 NA 0.531131 0.211679 NA 0.478 NA 2.940069 1358 7 133979578 133979578 A G UTR3 SLC35B4 NM_032826:c.*7T>C NA NA UTR3 ENSG00000205060 ENST00000378509:c.*7T>C,ENST00000416907:c.*554T>C NA NA NA NA 7q33 NA NA NA NA rs2241336 0.44 0.44 0.425 0.472045 0.4642 0.2708 0.5749 0.5219 0.547 0.48 0.27 0.55 0.52 0.4688 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491736 1.491736 NA 0.460349 0.523604 NA 0.406 NA 2.9399844 1358 18 33725874 33725874 T G intronic ELP2 NA NA NA intronic ENSG00000134759 NA NA NA NA NA 18q12.2 NA NA NA NA rs1789546 0.29 0.29 0.254 0.245208 0.3757 0.1756 0.3674 0.1641 0.2055 0.39 0.18 0.41 0.17 0.3184 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.758688 1.758688 NA 0.366047 0.204721 NA 0.254 NA 2.939853 1358 4 58969622 58969622 A C intergenic LOC255130,NONE dist=898157;dist=NONE NA NA downstream ENSG00000248660 NA NA NA NA NA 4q12 NA NA NA NA rs2610175 0.52 0.52 0.49 0.511581 0.5606 0.4891 0.6239 0.469 0.4622 0.55 0.5 0.58 0.45 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723207 NA NA NA NA NA 0.486 NA 2.9394 1358 8 59484899 59484899 T A intronic SDCBP NA NA NA intronic ENSG00000137575 NA NA NA NA NA 8q12.1 NA NA NA NA rs7827910 0.43 0.43 0.424 0.452676 0.3728 0.6022 0.2392 0.5287 0.4294 0.35 0.57 0.28 0.5 0.3607 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069417 NA NA 0.327209 0.495461 NA 0.37 NA 2.939291 1358 1 10327407 10327407 A T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs12141246 0.4 0.4 0.372 0.380591 0.3608 0.3919 0.4006 0.4486 0.2832 0.36 0.38 0.42 0.45 0.3501 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273433 NA NA 0.349884 0.409442 NA 0.355 NA 2.939216 1358 2 136960483 136960483 C T intergenic CXCR4,THSD7B dist=84758;dist=787979 NA NA intergenic ENSG00000227347,ENSG00000230037 dist=2410;dist=126528 NA NA NA NA 2q22.1 NA NA NA NA rs11688302 0.48 0.48 0.484 0.464856 0.3956 0.6577 0.4308 0.354 0.5112 0.37 0.72 0.46 0.39 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95099 NA NA NA NA NA 0.449 NA 2.9377334 1358 12 9353875 9353875 T C intronic PZP NA NA NA intronic ENSG00000126838 NA NA NA NA NA 12p13.31 NA NA NA NA rs3759274 0.34 0.34 0.358 0.348243 0.3549 0.4405 0.2695 0.3026 0.364 0.34 0.43 0.26 0.3 0.3525 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166612 NA NA 0.355563 0.30867 NA 0.283 NA 2.937037 1358 21 37623447 37623447 C T intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA NA NA rs2298450 0.38 0.38 0.332 0.389577 0.3469 0.3472 0.3746 0.5681 0.2464 0.34 0.3 0.37 0.53 0.366 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.693803 NA NA 0.350116 0.502953 NA 0.283 NA 2.936984 1358 12 52712898 52712898 A G intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2187512 0.33 0.33 0.343 0.349241 0.3628 0.1677 0.2493 0.5076 0.3793 0.36 0.16 0.29 0.52 0.3407 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520257 NA NA 0.360698 0.483886 ID=COSN164260;OCCURENCE=1(breast) 0.428 NA 2.935802 1358 19 50140068 50140068 C T intronic RRAS NA NA NA intronic ENSG00000126458 NA NA NA NA NA 19q13.33 NA NA Name=3 NA rs1368464 0.77 0.77 0.744 0.738219 0.6978 0.8343 0.7954 0.7799 0.5838 0.7 0.86 0.75 0.78 0.7034 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495649 NA NA 0.663372 0.762143 NA 0.783 NA 2.935428 1358 5 141975067 141975067 A C intronic FGF1 NA NA NA ncRNA_intronic ENSG00000231185 NA NA NA NA NA 5q31.3 NA NA NA NA rs34003 0.57 0.57 0.561 0.56889 0.4563 0.6121 0.3818 0.77 0.501 0.47 0.63 0.42 0.77 0.4951 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.891641 1.891641 NA 0.446744 0.711303 NA 0.645 NA 2.9351893 1358 8 92021036 92021036 C T intronic TMEM55A NA NA NA intronic ENSG00000155099 NA NA NA NA NA 8q21.3 NA NA Name=48 NA rs2054805 0.51 0.51 0.501 0.526558 0.7087 0.2708 0.4798 0.4864 0.6902 0.71 0.27 0.51 0.49 0.6279 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.680684 1.680684 NA 0.728372 0.508171 NA 0.551 NA 2.935028 1359 14 35576458 35576458 A C intronic PPP2R3C NA NA NA intronic ENSG00000092020,ENSG00000151327 NA NA NA NA NA 14q13.2 NA NA NA NA rs10132769 0.45 0.45 0.454 0.416733 0.5487 0.4117 0.3775 0.3525 0.4008 0.54 0.42 0.46 0.34 NA 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525464 NA NA 0.516336 0.396684 NA 0.391 NA 2.934964 1359 19 899567 899567 C G intronic R3HDM4 NA NA NA intronic ENSG00000198858 NA NA NA NA NA 19p13.3 NA NA NA NA rs2930885 0.33 0.33 0.334 0.35004 0.3519 0.2887 0.4251 0.2761 0.4581 0.35 0.29 0.4 0.28 0.3638 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031427 NA NA 0.350012 0.298636 NA 0.312 NA 2.934288 1359 8 81892766 81892766 G A intronic PAG1 NA NA NA intronic ENSG00000076641 NA NA NA NA NA 8q21.13 NA NA NA NA rs2241972 0.47 0.47 0.478 0.501797 0.3419 0.5317 0.3184 0.7337 0.4519 0.35 0.52 0.36 0.7 0.3915 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612922 NA NA 0.332674 0.64503 NA 0.355 NA 2.933926 1359 14 106110966 106110966 C T intergenic TMEM121,ELK2AP dist=114427;dist=24948 NA NA exonic ENSG00000211893 NA synonymous SNV ENSG00000211893:ENST00000390545:exon1:c.G162A:p.P54P NA NA 14q32.33 NA NA NA NA rs11557955 0.46 0.46 0.48 0.436701 0.5358 0.3899 0.647 0.1362 0.6401 0.55 0.52 0.59 0.15 0.5166 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398451 NA NA 0.514168 0.2394 NA 0.014 NA 2.933432 1359 19 13868669 13868669 G A intronic CCDC130 NA NA NA intronic ENSG00000104957 NA NA NA NA NA 19p13.2 NA NA NA NA rs6511886 0.38 0.38 0.357 0.419529 0.328 0.6101 0.3401 0.3124 0.5184 0.32 0.55 0.34 0.31 0.3905 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335583 NA NA 0.348372 0.317295 NA 0.42 NA 2.933128 1359 2 96962859 96962859 A G intronic SNRNP200 NA NA NA intronic ENSG00000144028 NA NA NA NA NA 2q11.2 NA NA NA NA rs17479466 0.3 0.3 0.312 0.389976 0.34 0.2817 0.3285 0.2859 0.7372 0.34 0.26 0.32 0.27 0.3724 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454782 NA NA 0.354535 0.296868 ID=COSN166203;OCCURENCE=1(NS) 0.232 NA 2.933065 1359 11 118959732 118959732 C T intronic HMBS NA NA NA intronic ENSG00000256269 NA NA NA NA NA 11q23.3 NA NA NA NA rs549893 0.52 0.52 0.531 0.534944 0.5109 0.2837 0.6916 0.7375 0.4335 0.51 0.25 0.65 0.74 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811918 NA NA 0.556254 0.721821 NA 0.58 NA 2.932846 1359 7 148543525 148543525 A G intronic EZH2 NA NA NA intronic ENSG00000106462 NA NA NA NA NA 7q36.1 NA NA Name=4 NA rs10274535 0.76 0.76 0.775 0.770367 0.673 0.7014 0.7882 0.9796 0.6462 0.68 0.68 0.77 0.97 0.704 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.566237 1.566237 NA 0.690233 0.929414 NA 0.739 NA 2.932767 1359 14 106110057 106110057 G A intergenic TMEM121,ELK2AP dist=113518;dist=25857 NA NA exonic ENSG00000211893 NA synonymous SNV ENSG00000211893:ENST00000390545:exon3:c.C561T:p.V187V NA NA 14q32.33 NA NA NA NA rs11160859 0.46 0.46 0.418 0.435104 0.5368 0.3869 0.6484 0.1316 0.6391 0.55 0.52 0.6 0.14 0.5138 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.318795 NA NA 0.516737 0.233012 NA 0.348 NA 2.932663 1359 19 19613381 19613381 G A intronic GATAD2A NA NA NA intronic ENSG00000167491 NA NA NA NA NA 19p13.11 NA NA NA NA rs892022 0.41 0.41 0.394 0.458466 0.3231 0.3006 0.4769 0.6437 0.4969 0.32 0.29 0.46 0.64 0.3967 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015755 NA NA 0.347582 0.612962 NA 0.478 NA 2.932618 1359 21 41142803 41142803 T C intronic IGSF5 NA NA NA intronic ENSG00000183067 NA NA NA NA NA 21q22.2 NA NA NA NA rs2837199 0.27 0.27 0.243 0.254593 0.3479 0.2609 0.2104 0.1891 0.272 0.33 0.28 0.24 0.17 0.3256 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.725153 NA NA 0.393953 0.205402 NA 0.217 NA 2.932547 1359 1 38345896 38345896 A C intronic INPP5B NA NA NA intronic ENSG00000204084 NA NA NA NA NA 1p34.3 NA NA Name=2 NA rs2306427 0.57 0.57 0.538 0.522963 0.7247 0.4752 0.5951 0.2995 0.6155 0.74 0.51 0.59 0.34 0.641 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367139 NA NA 0.702135 0.373404 NA 0.471 NA 2.932165 1359 8 74893880 74893880 C T UTR3 TMEM70 NM_017866:c.*24C>T,NM_001040613:c.*497C>T NA NA UTR3 ENSG00000175606 ENST00000312184:c.*24C>T NA NA NA NA 8q21.11 NA NA NA NA rs7108 0.46 0.46 0.443 0.47504 0.4553 0.3403 0.5951 0.5121 0.499 0.44 0.34 0.58 0.56 0.4946 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321895 NA NA 0.451288 0.492918 NA 0.449 NA 2.9321454 1359 12 75692607 75692607 G A intronic CAPS2 NA NA NA intronic ENSG00000180881 NA NA NA NA NA 12q21.1 NA NA NA NA rs7485576 0.29 0.29 0.277 0.252196 0.3579 0.3859 0.2594 0.0272 0.3047 0.36 0.4 0.31 0.04 0.3295 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409527 NA NA 0.380465 0.093963 NA 0.181 NA 2.932135 1359 13 79209382 79209382 A C intronic RNF219 NA NA NA intronic ENSG00000152193 NA NA NA NA NA 13q31.1 NA NA NA NA rs9805409 0.36 0.36 0.34 0.348243 0.3529 0.3333 0.268 0.4039 0.3405 0.38 0.33 0.28 0.41 0.3598 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.167756 NA NA 0.355398 0.39941 NA 0.283 NA 2.931902 1359 9 88989830 88989830 T C intergenic ZCCHC6,GAS1 dist=20428;dist=569447 NA NA downstream ENSG00000214908 NA NA NA NA NA 9q21.33 NA NA NA NA rs10868419 0.46 0.46 0.471 0.433506 0.5686 0.4067 0.4697 0.2958 0.4826 0.59 0.46 0.42 0.29 NA 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370927 NA NA NA NA NA 0.522 NA 2.9314 1359 14 65031572 65031572 A G intronic PPP1R36 NA NA NA ncRNA_intronic ENSG00000259076 NA NA NA NA NA 14q23.3 NA NA NA NA rs4902293 0.49 0.49 0.458 0.46865 0.4463 0.6548 0.5476 0.261 0.5245 0.46 0.66 0.54 0.31 0.4915 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912456 NA NA 0.464884 0.281434 NA 0.464 NA 2.9306493 1359 9 33026638 33026638 G A intronic DNAJA1 NA NA NA intronic ENSG00000086061 NA NA NA NA NA 9p21.1 NA NA NA NA rs2274769 0.32 0.32 0.305 0.267372 0.3787 0.1647 0.2997 0.3381 0.1401 0.38 0.2 0.33 0.35 0.3139 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711868 NA NA 0.37686 0.326373 NA 0.391 NA 2.93054 1359 X 1713168 1713168 C T intronic AKAP17A NA NA NA intronic ENSG00000197976 NA NA NA NA NA Xp22.33 NA NA NA NA rs5989832 0.56 0.56 NA NA NA NA NA NA NA 0.58 0.54 0.51 0.58 0.5387 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396958 NA NA 0.531206 0.551998 NA 0.645 NA 2.930094 1359 22 32579550 32579550 T C intergenic C22orf42,RFPL2 dist=24307;dist=6872 NA NA intergenic ENSG00000230120,ENSG00000128253 dist=23171;dist=6872 NA NA Score=397;Name=lod=55 NA 22q12.3 NA NA NA NA rs136428 0.44 0.44 0.441 0.45607 0.493 0.1369 0.3775 0.7995 0.3384 0.49 0.13 0.38 0.77 0.4352 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067954 NA NA 0.475389 0.750571 NA 0.529 NA 2.9297444 1359 19 57654065 57654065 T C intronic ZIM3 NA NA NA intronic ENSG00000141946 NA NA NA NA NA 19q13.43 NA NA NA NA rs58537382 0.39 0.39 0.352 0.384585 0.5239 0.376 0.451 0.1248 0.5542 0.52 0.38 0.48 0.14 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.512634 NA NA 0.546826 0.179913 NA 0.239 NA 2.929274 1359 3 193081866 193081866 T A intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 Score=824;Name=V$BRN2_01 NA NA NA rs4386441 0.71 0.71 0.719 0.663738 0.7087 0.7401 0.6859 0.6036 0.6043 0.71 0.76 0.7 0.64 0.6777 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459292 NA NA 0.684419 0.593509 NA 0.71 NA 2.929181 1359 22 32579559 32579559 A G intergenic C22orf42,RFPL2 dist=24316;dist=6863 NA NA intergenic ENSG00000230120,ENSG00000128253 dist=23180;dist=6863 NA NA Score=397;Name=lod=55 NA 22q12.3 NA NA NA NA rs136429 0.44 0.44 0.438 0.45627 0.494 0.1369 0.3775 0.7995 0.3384 0.49 0.13 0.38 0.77 0.4352 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27463 NA NA 0.475389 0.750571 NA 0.529 NA 2.9287444 1359 11 71260243 71260243 T C UTR3 KRTAP5-9 NM_005553:c.*30T>C NA NA UTR3 ENSG00000254997 ENST00000528743:c.*30T>C NA NA NA NA 11q13.4 NA NA NA NA rs2664 0.58 0.58 0.546 0.526158 0.4692 0.623 0.5908 0.6301 0.2986 0.49 0.68 0.6 0.59 0.4885 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07487 NA NA 0.44724 0.601683 NA 0.493 NA 2.9283934 1359 3 47277885 47277885 G A ncRNA_intronic KIF9-AS1 NA NA NA ncRNA_intronic ENSG00000227398 NA NA NA NA NA 3p21.31 NA NA NA NA rs13094438 0.5 0.5 0.477 0.479433 0.5994 0.5357 0.5245 0.2368 0.5941 0.6 0.53 0.54 0.29 0.5538 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.449814 NA NA 0.58593 0.289832 NA 0.529 NA 2.9275366 1359 11 134240142 134240142 T C intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs10791358 0.31 0.31 0.268 0.308307 0.3549 0.4206 0.4856 0.0507 0.3671 0.32 0.42 0.46 0.06 0.3571 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431968 NA NA 0.361648 0.10995 NA 0.217 NA 2.926352 1359 9 130168326 130168326 C T intronic SLC2A8 NA NA NA intronic ENSG00000136856 NA NA NA NA NA 9q33.3 NA NA NA NA rs10987637 0.28 0.28 0.272 0.277756 0.3867 0.1567 0.2334 0.2625 0.3425 0.38 0.12 0.26 0.32 0.3208 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429127 NA NA 0.366399 0.285959 NA 0.21 NA 2.926101 1359 18 55364830 55364830 G A intronic ATP8B1 NA NA NA ncRNA_intronic ENSG00000267040,ENSG00000267787 NA NA NA NA NA 18q21.31 NA NA NA NA rs319439 0.49 0.49 0.452 0.442093 0.4493 0.6706 0.572 0.2481 0.3691 0.44 0.68 0.59 0.3 0.4763 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546657 NA NA 0.481977 0.274852 NA 0.449 NA 2.9257563 1359 19 19646272 19646272 T C intronic YJEFN3 NA NA NA intronic ENSG00000250067,ENSG00000258674 NA NA NA NA NA 19p13.11 NA NA NA NA rs2304098 0.42 0.42 0.415 0.473642 0.3221 0.3214 0.4784 0.6551 0.5378 0.31 0.31 0.46 0.66 0.4053 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784984 NA NA 0.347307 0.622426 NA 0.464 NA 2.925293 1359 2 96943473 96943473 T C intronic SNRNP200 NA NA NA intronic ENSG00000144028 NA NA NA NA NA 2q11.2 NA NA NA NA rs3214063 0.3 0.3 0.319 0.389377 0.341 0.2798 0.3271 0.2852 0.7372 0.34 0.26 0.32 0.27 0.3739 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.403627 NA NA 0.36 0.296187 ID=COSN166202;OCCURENCE=1(NS) 0.232 NA 2.9251 1359 9 27284708 27284708 T A UTR3 EQTN NM_020641:c.*13A>T,NM_001161585:c.*13A>T NA NA UTR3 ENSG00000120160 ENST00000537675:c.*13A>T,ENST00000380032:c.*13A>T NA NA NA NA 9p21.2 NA NA NA NA rs1057524 0.37 0.37 0.352 0.347045 0.501 0.4732 0.2767 0.0915 0.454 0.5 0.46 0.32 0.12 0.434 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258091 NA NA 0.473256 0.139128 ID=COSN168495;OCCURENCE=1(large_intestine) 0.29 NA 2.9250774 1359 2 9554280 9554280 A T intronic ITGB1BP1 NA NA NA intronic ENSG00000119185 NA NA NA NA NA 2p25.1 NA NA NA NA rs12474647 0.19 0.19 0.179 0.196286 0.3797 0.0367 0.2104 0.0764 0.3241 0.37 0.02 0.22 0.07 0.3049 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356729 NA NA 0.390349 0.131412 NA 0.159 NA 2.925051 1360 4 146086269 146086269 C T intronic OTUD4 NA NA NA intronic ENSG00000164164 NA NA NA NA NA 4q31.21 NA NA NA NA rs17726651 0.23 0.23 0.202 0.204073 0.3867 0.1429 0.3112 0.0182 0.2546 0.39 0.18 0.29 0.02 0.3203 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276391 NA NA 0.368041 0.07224 NA 0.225 NA 2.924959 1360 7 40959287 40959287 T G intergenic C7orf10,INHBA dist=58921;dist=769314 NA NA intergenic ENSG00000175600,ENSG00000232458 dist=58925;dist=44979 NA NA NA NA 7p14.1 NA NA NA NA rs13233232 0.27 0.27 0.212 0.220248 0.4085 0.1815 0.4683 0.0182 0.1636 0.39 0.19 0.45 0.03 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.676312 1.676312 NA NA NA NA 0.254 NA 2.9248334 1360 9 137708803 137708803 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs3811149 0.58 0.58 0.592 0.592252 0.5109 0.4921 0.5086 0.8676 0.4663 0.52 0.48 0.5 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421849 NA NA 0.564425 0.828757 ID=COSN168703;OCCURENCE=2(large_intestine) 0.688 NA 2.924675 1360 7 47943953 47943953 C T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs11766212 0.31 0.31 0.269 0.274161 0.3728 0.4425 0.4063 0.0393 0.2229 0.38 0.41 0.38 0.05 0.3431 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679311 NA NA 0.359535 0.108715 NA 0.406 NA 2.924565 1360 11 9652916 9652916 A T intergenic WEE1,SWAP70 dist=41603;dist=32712 NA NA upstream ENSG00000255463 NA NA NA NA NA 11p15.4 NA NA NA NA rs6483579 0.41 0.41 0.028 0.367612 0.5755 0.3611 0.3948 0.1097 0.4898 0.65 0.36 0.44 0.1 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476033 NA NA NA NA NA NA NA 2.9245 1360 11 9652917 9652917 T C intergenic WEE1,SWAP70 dist=41604;dist=32711 NA NA upstream ENSG00000255463 NA NA NA NA NA 11p15.4 NA NA NA NA rs6483580 0.41 0.41 NA 0.367612 0.5755 0.3611 0.3948 0.1097 0.4898 0.65 0.36 0.43 0.1 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564066 NA NA NA NA NA NA NA 2.9245 1360 4 120079159 120079159 A G intronic MYOZ2 NA NA NA intronic ENSG00000172399 NA NA NA NA NA 4q26 NA NA NA NA rs11721566 0.57 0.57 0.54 0.546326 0.7008 0.628 0.6657 0.2458 0.6247 0.72 0.61 0.64 0.26 0.6494 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.50259 NA NA 0.725698 0.323196 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024480.2;CLNDSDB=.;CLNDSDBID=. 2.924102 1360 9 96425777 96425777 C T intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA NA NA 9q22.31 NA NA NA NA rs7036592 0.33 0.33 0.335 0.269768 0.3678 0.2917 0.2867 0.2769 0.1247 0.37 0.3 0.29 0.3 0.3272 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271373 NA NA 0.381628 0.282115 NA 0.37 NA 2.923372 1360 17 7011129 7011129 C T intronic ASGR2 NA NA NA intronic ENSG00000161944 NA NA NA NA NA 17p13.1 NA NA NA NA rs530779 0.34 0.34 0.3 0.352236 0.3489 0.4405 0.4841 0.1596 0.4315 0.34 0.44 0.44 0.13 0.3744 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388829 NA NA 0.353372 0.18089 NA 0.29 NA 2.923328 1360 1 204210791 204210791 G A intronic PLEKHA6 NA NA NA intronic ENSG00000143850 NA NA NA NA NA 1q32.1 NA NA NA NA rs4951325 0.36 0.36 0.331 0.327875 0.328 0.4762 0.4467 0.1853 0.2832 0.33 0.48 0.44 0.2 0.3831 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.35832 2.35832 NA 0.366047 0.240581 NA 0.304 NA 2.922853 1360 3 145820684 145820684 G A intronic PLOD2 NA NA NA ncRNA_intronic ENSG00000243415 NA NA NA NA NA 3q24 NA NA NA NA rs3762691 0.49 0.49 0.498 0.480431 0.4652 0.5734 0.4597 0.4879 0.4049 0.46 0.56 0.46 0.48 0.4881 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675086 NA NA 0.457199 0.504548 NA 0.428 NA 2.9228343 1360 12 108203446 108203446 G A intergenic ASCL4,LOC728739 dist=33025;dist=93481 NA NA intergenic ENSG00000263632,ENSG00000257141 dist=9949;dist=23189 NA NA NA NA 12q23.3 NA NA NA NA rs2374723 0.33 0.33 0.304 0.300919 0.4105 0.4425 0.4121 0.0197 0.3436 0.42 0.43 0.38 0.04 NA 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799558 NA NA NA NA NA 0.384 NA 2.9228334 1360 7 813867 813867 C G intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA Name=GABP NA NA rs6973746 0.65 0.65 0.666 0.651757 0.6938 0.5198 0.5879 0.7617 0.6411 0.68 0.52 0.57 0.78 0.668 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748461 NA NA 0.715419 0.718278 NA 0.333 NA 2.922781 1360 3 137958438 137958438 C T intronic ARMC8 NA NA NA intronic ENSG00000114098 NA NA NA NA NA 3q22.3 NA NA NA NA rs6778511 0.66 0.66 0.64 0.658147 0.5308 0.7837 0.7046 0.7065 0.5613 0.52 0.8 0.64 0.72 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890647 NA NA 0.546935 0.676301 NA 0.558 NA 2.922265 1360 19 52148804 52148804 A C intronic SIGLEC14 NA NA NA intronic ENSG00000105501,ENSG00000254415,ENSG00000268500 NA NA NA NA NA 19q13.41 NA NA NA NA rs885266 0.39 0.39 0.399 0.440495 0.341 0.4335 0.3963 0.4962 0.5061 0.34 0.34 0.37 0.53 0.3752 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223625 NA NA 0.361946 0.414745 NA 0.391 NA 2.921854 1360 9 21816646 21816646 A G intronic MTAP NA NA NA intronic ENSG00000099810,ENSG00000264545 NA NA NA NA NA 9p21.3 NA NA NA NA rs7023474 0.66 0.66 0.642 0.641374 0.5298 0.6994 0.67 0.8442 0.4018 0.53 0.67 0.62 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399861 NA NA 0.548712 0.815029 NA 0.725 NA 2.921488 1360 1 176734756 176734756 C T intronic PAPPA2 NA NA NA intronic ENSG00000116183 NA NA NA NA NA 1q25.2 NA NA NA NA rs3737759 0.31 0.31 0.339 0.33746 0.3907 0.0556 0.2406 0.525 0.3885 0.38 0.06 0.3 0.51 0.3351 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561085 NA NA 0.352899 0.493285 NA 0.449 NA 2.921301 1360 2 89196906 89196906 A C intergenic MIR4436A,NONE dist=84938;dist=NONE NA NA intronic ENSG00000211599 NA NA NA NA NA 2p11.2 NA NA NA NA rs4588191 0.33 0.33 0.302 0.332268 0.2207 0.502 0.3285 0.23 0.4131 0.22 0.59 0.3 0.22 0.2854 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17833 NA NA 0.239839 0.223214 NA 0.159 NA 2.9207277 1360 11 48238302 48238302 G T upstream OR4B1 NA NA NA upstream ENSG00000175619 NA NA NA NA NA 11p11.2 NA NA NA NA rs1566737 0.67 0.67 0.633 0.607228 0.7475 0.5526 0.7421 0.553 0.4969 0.75 0.61 0.74 0.54 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694329 NA NA NA NA NA 0.623 NA 2.9191666 1360 6 165713998 165713998 C T intronic C6orf118 NA NA NA intronic ENSG00000112539 NA NA NA NA NA 6q27 NA NA NA NA rs573814 0.38 0.38 0.399 0.383387 0.3738 0.2024 0.3963 0.4705 0.453 0.39 0.24 0.4 0.51 0.3636 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512556 NA NA 0.343488 0.417839 NA 0.384 NA 2.919112 1360 11 6890939 6890939 C T upstream OR10A2 NA NA NA UTR5 ENSG00000170790 ENST00000307322:c.-47C>T NA NA NA NA 11p15.4 NA NA NA NA rs4758141 0.31 0.31 0.305 0.324281 0.3569 0.3135 0.3732 0.2073 0.4254 0.36 0.31 0.35 0.2 0.3516 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158012 NA NA 0.372439 0.2 NA 0.268 NA 2.919061 1360 11 64137875 64137875 T C intronic RPS6KA4 NA NA NA intronic ENSG00000162302 NA NA NA NA NA 11q13.1 NA NA NA NA rs11606081 0.27 0.27 0.249 0.252796 0.3708 0.2123 0.3818 0.0514 0.3538 0.39 0.22 0.35 0.06 0.3447 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.57644 NA NA 0.365573 0.108814 NA 0.239 NA 2.918927 1360 4 88356111 88356111 T C intronic NUDT9 NA NA NA intronic ENSG00000170502 NA NA NA NA NA 4q22.1 NA NA NA NA rs28736552 0.26 0.26 0.238 0.247204 0.3638 0.1052 0.3732 0.1906 0.2607 0.39 0.11 0.34 0.17 0.3372 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.463147 1.463147 NA 0.380265 0.195593 NA 0.188 NA 2.918735 1360 9 79164197 79164197 G A intergenic GCNT1,PRUNE2 dist=41865;dist=62095 NA NA downstream ENSG00000219149 NA NA NA NA NA 9q21.13 NA NA NA NA rs509308 0.62 0.62 0.578 0.609026 0.5815 0.6181 0.7133 0.5983 0.5685 0.6 0.65 0.71 0.54 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.030441 NA NA NA NA NA 0.58 NA 2.9185 1360 11 62799940 62799940 G A intergenic SLC22A8,SLC22A24 dist=16623;dist=47472 NA NA downstream ENSG00000256041 NA NA NA NA NA 11q12.3 NA NA NA NA rs7935838 0.51 0.51 0.532 0.505591 0.5815 0.4137 0.562 0.4834 0.5123 0.57 0.46 0.52 0.47 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816986 NA NA NA NA NA 0.558 NA 2.9185 1360 7 73101137 73101137 A G intronic WBSCR22 NA NA NA intronic ENSG00000071462 NA NA NA NA NA 7q11.23 NA NA NA NA rs11769825 0.26 0.26 0.219 0.257388 0.3698 0.1756 0.3674 0.0764 0.3926 0.37 0.18 0.39 0.09 0.3342 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709311 NA NA 0.377558 0.121425 NA 0.239 NA 2.918442 1360 15 34634324 34634324 C G intronic NOP10 NA NA NA intronic ENSG00000182117 NA NA NA NA NA 15q14 NA NA NA NA rs422388 0.44 0.44 0.448 0.452875 0.3509 0.3512 0.3343 0.7148 0.3926 0.36 0.36 0.36 0.7 0.3681 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425538 NA NA 0.362611 0.649932 ID=COSN164890;OCCURENCE=1(breast) 0.326 NA 2.918389 1360 8 10689142 10689142 G T intronic PINX1 NA NA NA intronic ENSG00000171056,ENSG00000254093,ENSG00000258724 NA NA NA NA NA 8p23.1 NA NA NA NA rs7004998 0.39 0.39 0.404 0.405551 0.3459 0.2202 0.2767 0.7254 0.317 0.35 0.2 0.31 0.71 0.4154 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605561 NA NA 0.320422 0.631435 NA 0.457 NA 2.918278 1360 9 137775139 137775139 A G intronic FCN2 NA NA NA intronic ENSG00000160339 NA NA NA NA NA 9q34.3 NA NA NA NA rs3128624 0.36 0.36 0.339 0.376997 0.3718 0.4177 0.2997 0.3222 0.4693 0.37 0.42 0.29 0.33 0.3638 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474917 NA NA 0.346512 0.341807 NA 0.261 NA 2.917888 1360 7 138305782 138305782 T C intronic SVOPL NA NA NA intronic ENSG00000157703 NA NA NA NA NA 7q34 NA NA NA NA rs3734945 0.35 0.35 0.305 0.332268 0.3479 0.3948 0.4179 0.2458 0.3078 0.36 0.4 0.39 0.26 0.3622 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590568 NA NA 0.372093 0.269859 NA 0.246 NA 2.917807 1360 18 10540432 10540432 A C intronic NAPG NA NA NA intronic ENSG00000134265 NA NA NA NA NA 18p11.22 NA NA NA NA rs510110 0.39 0.39 0.409 0.363019 0.3936 0.4315 0.3343 0.3495 0.2996 0.39 0.46 0.35 0.35 0.3434 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.501379 1.501379 NA 0.34653 0.333423 NA 0.355 NA 2.91647 1360 19 57654104 57654104 T C intronic ZIM3 NA NA NA intronic ENSG00000141946 NA NA NA NA NA 19q13.43 NA NA NA NA rs59976893 0.39 0.39 0.359 0.386382 0.5298 0.376 0.4553 0.1248 0.5542 0.52 0.38 0.49 0.14 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244389 NA NA 0.554054 0.179913 NA 0.239 NA 2.916146 1360 17 16229232 16229232 A G UTR3 PIGL NM_004278:c.*20A>G NA NA UTR3 ENSG00000108474 ENST00000225609:c.*20A>G,ENST00000395844:c.*12A>G,ENST00000596678:c.*12A>G NA NA NA NA 17p11.2 NA NA NA NA rs15739 0.31 0.31 0.26 0.267372 0.496 0.12 0.4294 0.112 0.2791 0.49 0.12 0.47 0.12 0.414 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.610398 4.610398 NA 0.507674 0.172946 ID=COSN165346;OCCURENCE=1(breast) 0.283 NA 2.9156594 1360 15 100695347 100695347 T C intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs8024690 0.36 0.36 0.351 0.38139 0.3628 0.246 0.3444 0.4849 0.4264 0.35 0.23 0.38 0.49 0.3632 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115109 NA NA 0.358488 0.467544 NA 0.333 NA 2.915512 1360 12 42859961 42859961 A G intronic PRICKLE1 NA NA NA intronic ENSG00000139174 NA NA NA NA NA 12q12 NA NA NA NA rs12230583 0.3 0.3 0.265 0.269768 0.3638 0.2004 0.3588 0.2269 0.2393 0.37 0.23 0.41 0.22 0.3447 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079965 NA NA 0.376163 0.243532 ID=COSN164222;OCCURENCE=1(breast) 0.283 NA 2.915337 1361 19 55699575 55699575 T C intronic PTPRH NA NA NA intronic ENSG00000080031 NA NA NA NA NA 19q13.42 NA NA NA NA rs3803905 0.43 0.43 0.453 0.485024 0.331 0.4048 0.5216 0.618 0.5204 0.32 0.42 0.46 0.61 0.4175 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263782 NA NA 0.336512 0.592828 NA 0.413 NA 2.914988 1361 8 38851204 38851204 A C intronic TM2D2 NA NA NA intronic ENSG00000169490 NA NA NA NA NA 8p11.22 NA NA NA NA rs28626007 0.28 0.28 0.267 0.278554 0.3688 0.1984 0.3256 0.1989 0.3425 0.36 0.21 0.34 0.19 0.3475 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.023233 5.023233 NA 0.368953 0.222651 NA 0.268 NA 2.914747 1361 2 127821499 127821499 T C intronic BIN1 NA NA NA intronic ENSG00000136717 NA NA NA NA NA 2q14.3 NA NA NA NA rs72481904 0.33 0.33 0.252 0.345248 0.3658 0.3879 0.3991 0.1543 0.5 0.36 0.38 0.44 0.15 0.3704 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28047 NA NA 0.34907 0.166364 NA 0.232 NA 2.91473 1361 1 22837849 22837849 C T intronic ZBTB40 NA NA NA intronic ENSG00000184677 NA NA NA NA NA 1p36.12 NA NA NA NA rs209727 0.5 0.5 0.5 0.483626 0.3231 0.3978 0.6153 0.7632 0.2658 0.32 0.45 0.6 0.76 0.4146 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124632 NA NA 0.347907 0.698366 NA 0.457 NA 2.914393 1361 17 45904163 45904163 A G intronic MRPL10 NA NA NA intronic ENSG00000159111 NA NA NA NA NA 17q21.32 NA NA NA NA rs3809869 0.36 0.36 0.307 0.334665 0.3797 0.6419 0.3357 0.0333 0.3783 0.39 0.63 0.3 0.04 0.3593 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189614 NA NA 0.347209 0.093963 NA 0.217 NA 2.913791 1361 19 35660450 35660450 T C intronic FXYD5 NA NA NA intronic ENSG00000089327 NA NA NA NA NA 19q13.12 NA NA NA NA rs2285515 0.3 0.3 0.271 0.303514 0.3708 0.1399 0.3127 0.3691 0.3078 0.37 0.12 0.31 0.39 0.3369 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409036 NA NA 0.381163 0.330685 NA 0.42 NA 2.911137 1361 7 129037029 129037029 G C intronic AHCYL2 NA NA NA intronic ENSG00000158467 NA NA NA NA NA 7q32.1 NA NA NA NA rs17168750 0.36 0.36 0.321 0.325479 0.3897 0.5933 0.3775 0.0287 0.3476 0.4 0.62 0.33 0.04 0.3494 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.408453 2.408453 NA 0.349884 0.087381 NA 0.275 NA 2.911016 1361 11 134241094 134241094 A G intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs4937880 0.32 0.32 0.282 0.315895 0.3618 0.4206 0.4885 0.0635 0.3793 0.33 0.42 0.46 0.09 0.3596 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562559 NA NA 0.367692 0.12321 NA 0.225 NA 2.910908 1361 9 136648746 136648746 G C intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA NA NA NA rs13283160 0.3 0.3 0.264 0.289137 0.3559 0.4087 0.3401 0.0681 0.3599 0.34 0.39 0.34 0.09 0.3537 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497533 NA NA 0.379651 0.107175 NA 0.297 NA 2.910749 1361 7 36465570 36465570 T C intronic ANLN NA NA NA intronic ENSG00000011426 NA NA NA NA NA 7p14.2 NA NA NA NA rs6957214 0.54 0.54 0.527 0.535144 0.5338 0.6567 0.549 0.3873 0.6012 0.55 0.68 0.52 0.39 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13807 NA NA 0.555485 0.438584 NA 0.529 NA 2.910715 1361 2 183935709 183935709 C G intergenic NCKAP1,DUSP19 dist=32480;dist=7578 NA NA downstream ENSG00000231203 NA NA NA NA NA 2q32.1 NA NA NA NA rs867340 0.6 0.6 0.529 0.582867 0.5895 0.8899 0.6556 0.1831 0.7485 0.6 0.9 0.63 0.21 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637855 NA NA NA NA NA 0.5 NA 2.9105 1361 21 38539844 38539844 G A intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2000415 0.39 0.39 0.371 0.409944 0.3757 0.5228 0.2853 0.3041 0.5603 0.37 0.53 0.28 0.32 0.3727 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236784 NA NA 0.34156 0.32584 NA 0.355 NA 2.91004 1361 19 3613422 3613422 G A ncRNA_exonic CACTIN-AS1 NA NA NA ncRNA_exonic ENSG00000226800 NA NA NA NA NA 19p13.3 NA NA NA NA rs2074790 0.46 0.46 0.463 0.430511 0.5795 0.3294 0.6037 0.3018 0.4325 0.58 0.33 0.6 0.33 0.5865 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266564 NA NA 0.590966 0.410142 NA 0.399 NA 2.9097006 1361 3 55733390 55733390 C T intronic ERC2 NA NA NA intronic ENSG00000187672 NA NA NA NA NA 3p14.3 NA NA NA NA rs4955865 0.35 0.35 0.311 0.344449 0.3658 0.369 0.438 0.2579 0.3476 0.36 0.36 0.45 0.23 0.3715 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765991 NA NA 0.353659 0.248853 NA 0.297 NA 2.909041 1361 19 8976713 8976713 A G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs3764552 0.32 0.32 0.293 0.291134 0.3748 0.2589 0.3631 0.2496 0.2434 0.37 0.31 0.4 0.22 0.3468 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518367 NA NA 0.369512 0.238393 NA 0.283 NA 2.908888 1361 11 5141876 5141876 G A intergenic OR52E2,OR52A5 dist=61019;dist=11046 NA NA ncRNA_exonic ENSG00000205494 NA NA NA NA NA 11p15.4 NA NA NA NA rs10837373 0.42 0.42 0.407 0.38778 0.3618 0.4792 0.353 0.4576 0.2505 0.37 0.49 0.36 0.45 0.3722 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608883 NA NA 0.357143 0.439573 NA 0.406 NA 2.908857 1361 7 142251190 142251190 G C intergenic LOC730441,MTRNR2L6 dist=279122;dist=122941 NA NA upstream ENSG00000211713 NA NA NA NA NA 7q34 NA NA NA NA rs361435 0.45 0.45 0.449 0.487021 0.3002 0.6865 0.4841 0.3654 0.6401 0.29 0.7 0.46 0.39 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265142 NA NA 0.291012 0.348266 NA 0.399 NA 2.908788 1361 8 89081730 89081730 T C intronic MMP16 NA NA NA intronic ENSG00000156103 NA NA NA NA NA 8q21.3 NA NA NA NA rs2616490 0.56 0.56 NA 0.5625 0.5169 0.6905 0.6441 0.466 0.5501 0.51 0.66 0.64 0.46 0.5745 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650321 NA 1 NA NA NA 0.355 NA 2.9086 1361 19 50962062 50962062 G A intronic MYBPC2 NA NA NA intronic ENSG00000086967 NA NA NA NA NA 19q13.33 NA NA NA NA rs3745518 0.53 0.53 0.489 0.535942 0.5596 0.5506 0.6297 0.3601 0.6677 0.57 0.55 0.6 0.38 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255699 NA NA 0.531958 0.36703 NA 0.493 NA 2.908442 1361 5 170149674 170149674 A T intronic KCNIP1 NA NA NA intronic ENSG00000182132 NA NA NA NA NA 5q35.1 NA NA NA NA rs12514966 0.22 0.22 0.19 0.172524 0.3867 0.0506 0.2954 0.0507 0.1554 0.39 0.04 0.36 0.05 0.298 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134288 NA NA 0.40686 0.123695 NA 0.225 NA 2.90844 1361 17 7721030 7721030 G A intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs872346 0.23 0.23 0.209 0.171326 0.4225 0.0595 0.2118 0.0688 0.138 0.41 0.07 0.28 0.07 0.2805 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.315519 NA NA 0.388953 0.133908 NA 0.188 NA 2.908047 1361 19 57820717 57820717 C T intergenic ZNF460,ZNF543 dist=15281;dist=11148 NA NA downstream ENSG00000268205 NA NA NA NA NA 19q13.43 NA NA NA NA rs4289092 0.57 0.57 0.543 0.591054 0.5924 0.3125 0.6643 0.7496 0.6104 0.59 0.31 0.67 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03245 NA NA NA NA NA 0.536 NA 2.9076 1361 9 117064345 117064345 G A intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs1546048 0.43 0.43 0.442 0.48103 0.331 0.6796 0.4265 0.4024 0.5757 0.33 0.6 0.41 0.38 0.4068 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.143565 NA NA 0.355 0.405583 NA 0.449 NA 2.9072 1361 11 94197260 94197260 A G intronic MRE11A NA NA NA intronic ENSG00000020922 NA NA NA NA NA 11q21 NA NA NA NA rs641936 0.39 0.39 0.399 0.388778 0.3748 0.4028 0.4107 0.3601 0.4121 0.36 0.44 0.41 0.38 0.3783 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725321 NA NA 0.339926 0.375965 NA 0.377 NA 2.906974 1361 11 112584001 112584001 C G intergenic C11orf34,NCAM1 dist=452418;dist=247968 NA NA intergenic ENSG00000254968,ENSG00000254626 dist=91549;dist=74026 NA NA NA NA 11q23.2 NA NA NA NA rs11214321 0.38 0.38 0.34 0.378395 0.4264 0.5159 0.4496 0.1142 0.4939 0.42 0.51 0.42 0.14 NA 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364124 NA NA NA NA NA 0.254 NA 2.9069334 1361 14 35488309 35488309 A G intronic SRP54 NA NA NA intronic ENSG00000100883 NA NA NA NA NA 14q13.2 NA NA NA NA rs17102982 0.44 0.44 0.417 0.409944 0.3579 0.6786 0.3372 0.2746 0.4213 0.37 0.71 0.33 0.32 0.3984 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877692 NA NA 0.336823 0.261916 NA 0.348 NA 2.906877 1361 11 5142134 5142134 C T intergenic OR52E2,OR52A5 dist=61277;dist=10788 NA NA ncRNA_exonic ENSG00000205494 NA NA NA NA NA 11p15.4 NA NA NA NA rs11035760 0.42 0.42 0.413 0.38778 0.3618 0.4792 0.353 0.4576 0.2505 0.37 0.49 0.36 0.45 0.3746 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.431625 NA NA 0.356877 0.438608 NA 0.42 NA 2.906723 1361 2 127447763 127447763 G A intronic GYPC NA NA NA intronic ENSG00000136732 NA NA NA NA NA 2q14.3 NA NA NA NA rs6709803 0.64 0.64 0.641 0.614417 0.5497 0.6746 0.572 0.7466 0.4703 0.56 0.7 0.57 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.207915 NA NA 0.543997 0.690751 NA 0.688 NA 2.906303 1361 10 62794328 62794328 G A intergenic RHOBTB1,TMEM26 dist=90295;dist=372073 NA NA intergenic ENSG00000227244,ENSG00000196932 dist=8150;dist=372073 NA NA NA NA 10q21.2 NA NA NA NA rs2082306 0.59 0.59 0.563 0.621206 0.4274 0.5913 0.6354 0.8578 0.5215 0.42 0.61 0.62 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814047 NA NA NA NA NA 0.572 NA 2.9059334 1361 1 187684306 187684306 C T intergenic PLA2G4A,NONE dist=726193;dist=NONE NA NA upstream ENSG00000223847 NA NA NA NA NA 1q31.1 NA NA NA NA rs4381145 0.4 0.4 NA 0.404752 0.5944 0.0437 0.5346 0.4781 0.3906 0.57 0.03 0.54 0.47 NA 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53149 NA NA NA NA NA 0.493 NA 2.9056 1361 17 10548992 10548992 C T intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA Name=2 NA rs2239934 0.5 0.5 0.496 0.466054 0.7584 0.373 0.5346 0.2383 0.5204 0.74 0.36 0.52 0.27 0.6075 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431784 NA NA 0.728605 0.294598 NA 0.601 NA 2.905495 1361 1 248367415 248367415 C T downstream OR2M3 NA NA NA downstream ENSG00000228198 NA NA NA NA NA 1q44 NA NA NA NA rs4916082 0.77 0.77 0.765 0.798323 0.7614 0.7897 0.7781 0.7466 0.9294 0.77 0.78 0.73 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.115375 NA NA NA NA NA 0.761 NA 2.9052666 1361 1 207300259 207300259 A G intronic C4BPA NA NA NA intronic ENSG00000123838 NA NA NA NA NA 1q32.2 NA NA NA NA rs2491393 0.41 0.41 0.413 0.422125 0.3728 0.2679 0.4308 0.6006 0.3845 0.36 0.33 0.4 0.58 0.3773 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238 NA NA 0.344651 0.55606 NA 0.464 NA 2.905249 1361 4 8293974 8293974 C T intronic HTRA3 NA NA NA intronic ENSG00000170801 NA NA NA NA NA 4p16.1 NA NA NA NA rs4235258 0.71 0.71 0.721 0.746006 0.5348 0.8254 0.6441 0.9145 0.726 0.53 0.82 0.67 0.91 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68738 NA NA 0.560025 0.858382 NA 0.616 NA 2.905175 1362 19 8976471 8976471 G A intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs3764554 0.32 0.32 0.308 0.284944 0.3748 0.255 0.3631 0.23 0.2423 0.37 0.31 0.4 0.2 0.3529 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273806 NA NA 0.368205 0.225065 NA 0.268 NA 2.904095 1362 17 10542803 10542803 T C intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA Score=304;Name=lod=23 NA 17p13.1 NA NA NA NA rs2285473 0.5 0.5 0.497 0.466454 0.7584 0.3839 0.5346 0.2398 0.5092 0.74 0.37 0.52 0.27 0.6088 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049939 NA NA 0.728837 0.295279 NA 0.601 NA 2.903963 1362 12 6640267 6640267 G A intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs10849485 0.32 0.32 0.288 0.295927 0.3588 0.376 0.33 0.1369 0.3395 0.36 0.38 0.38 0.17 0.3546 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143442 NA NA 0.382736 0.176804 NA 0.203 NA 2.903864 1362 3 46479668 46479668 A G intronic LTF NA NA NA intronic ENSG00000012223 NA NA NA NA NA 3p21.31 NA NA NA NA rs3213479 0.44 0.44 0.417 0.439896 0.339 0.621 0.5245 0.3275 0.4489 0.33 0.63 0.51 0.32 0.399 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640504 NA NA 0.358372 0.349296 NA 0.406 NA 2.903628 1362 5 149006837 149006837 A G intronic ARHGEF37 NA NA NA intronic ENSG00000183111 NA NA NA Score=387;Name=lod=50 NA 5q32 NA NA NA NA rs7732873 0.64 0.64 0.611 0.615216 0.7187 0.5893 0.549 0.5953 0.6094 0.73 0.58 0.61 0.61 0.6616 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.169176 NA NA 0.716578 0.614343 NA 0.703 NA 2.903122 1362 1 65684425 65684425 C T intronic AK4 NA NA NA intronic ENSG00000162433 NA NA NA NA NA 1p31.3 NA NA NA NA rs11208611 0.57 0.57 0.564 0.603435 0.3022 0.7163 0.5375 0.8623 0.4939 0.3 0.72 0.52 0.84 0.4504 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348939 NA NA 0.344419 0.782796 NA 0.522 NA 2.902981 1362 2 130910847 130910847 G A intronic SMPD4 NA NA NA intronic ENSG00000136699 NA NA NA NA NA 2q21.1 NA NA NA NA rs4511676 0.39 0.39 0.328 0.389377 0.3469 0.4405 0.4539 0.3109 0.4407 0.35 0.47 0.42 0.34 0.3889 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244853 NA NA 0.362093 0.352474 NA 0.522 NA 2.902107 1362 17 79173398 79173398 A G intronic AZI1 NA NA NA ncRNA_exonic ENSG00000262115 NA NA NA NA NA 17q25.3 NA NA NA NA rs906176 0.46 0.46 0.385 0.461262 0.4493 0.6319 0.6268 0.1641 0.5818 0.45 0.63 0.6 0.15 0.5208 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568686 NA NA 0.461413 0.208447 NA 0.435 NA 2.9018203 1362 5 13769257 13769257 T A intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs12655133 0.35 0.35 0.323 0.324681 0.3817 0.3442 0.3429 0.3283 0.228 0.38 0.34 0.31 0.33 0.3389 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.437366 NA NA 0.377674 0.32887 NA 0.341 NA 2.901726 1362 2 98413781 98413781 C T intronic TMEM131 NA NA NA intronic ENSG00000075568 NA NA NA NA NA 2q11.2 NA NA NA NA rs2305143 0.29 0.29 0.263 0.238618 0.3926 0.1845 0.2176 0.2428 0.1452 0.41 0.22 0.21 0.25 0.3345 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543255 NA NA 0.371338 0.252711 ID=COSN166220;OCCURENCE=1(breast) 0.217 NA 2.901562 1362 6 32427572 32427572 C G intergenic HLA-DRA,HLA-DRB5 dist=14746;dist=57582 NA NA downstream ENSG00000196301 NA NA NA NA NA 6p21.32 NA NA NA NA rs9268830 0.24 0.24 0.243 0.253794 0.1809 0.3829 0.2464 0.2368 0.2239 0.16 0.39 0.23 0.21 0.2389 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4816 NA NA 0.179558 0.223744 NA 0.239 NA 2.900642 1362 18 33744677 33744677 T C intronic ELP2 NA NA NA intronic ENSG00000134759 NA NA NA NA NA 18q12.2 NA NA NA NA rs684890 0.35 0.35 0.334 0.320288 0.3817 0.2014 0.3847 0.3805 0.2526 0.4 0.19 0.43 0.39 0.3479 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219861 NA NA 0.369884 0.364957 NA 0.319 NA 2.900516 1362 11 7614492 7614492 A G intronic PPFIBP2 NA NA NA intronic ENSG00000166387 NA NA NA NA NA 11p15.4 NA NA NA NA rs7115173 0.34 0.34 0.342 0.333466 0.3827 0.4563 0.3055 0.1982 0.3589 0.36 0.47 0.31 0.2 0.3615 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.338513 2.338513 NA 0.356145 0.224898 NA 0.319 NA 2.899655 1362 3 41961168 41961168 T C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs1716979 0.34 0.34 0.309 0.308706 0.3708 0.5992 0.2565 0.0303 0.3589 0.38 0.59 0.26 0.04 0.3532 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741336 NA NA 0.376378 0.083836 NA 0.275 NA 2.899622 1362 22 32435409 32435409 G C intergenic YWHAH,SLC5A1 dist=81819;dist=3610 NA NA upstream ENSG00000232346 NA NA NA NA NA 22q12.3 NA NA NA NA rs130262 0.58 0.58 0.535 0.532947 0.6004 0.8472 0.6859 0.1112 0.6012 0.61 0.87 0.67 0.13 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860031 NA NA NA NA NA 0.514 NA 2.8996 1362 1 43021810 43021810 C T intronic CCDC30 NA NA NA intronic ENSG00000186409 NA NA NA NA NA 1p34.2 NA NA NA NA rs12038786 0.42 0.42 0.383 0.459864 0.3489 0.5992 0.2983 0.4448 0.5654 0.34 0.56 0.3 0.46 0.3952 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971053 NA NA 0.356478 0.413676 NA 0.355 NA 2.899422 1362 3 42226151 42226151 T C intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA Name=GATA-2 NA NA rs4234445 0.78 0.78 0.762 0.742812 0.6958 0.9792 0.8199 0.646 0.6237 0.68 0.99 0.8 0.69 0.7204 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38174 NA NA 0.684767 0.653427 NA 0.775 NA 2.899033 1362 17 10544018 10544018 T C intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA Name=15 NA rs876660 0.5 0.5 0.499 0.466653 0.7584 0.3839 0.5346 0.2398 0.5102 0.74 0.37 0.52 0.27 0.614 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.730725 NA NA 0.728837 0.29596 NA 0.616 NA 2.898763 1362 22 50635627 50635627 C T intronic TRABD NA NA NA intronic ENSG00000170638 NA NA NA NA NA 22q13.33 NA NA NA NA rs5771095 0.37 0.37 0.395 0.382188 0.3579 0.3869 0.3775 0.4115 0.3661 0.36 0.36 0.34 0.43 0.3798 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577973 NA NA 0.3637 0.503651 NA 0.399 NA 2.8986 1362 21 32526525 32526525 C T intronic TIAM1 NA NA NA intronic ENSG00000156299 NA NA NA NA NA 21q22.11 NA NA NA NA rs12482307 0.25 0.25 0.243 0.270367 0.3638 0.2401 0.2839 0.0741 0.4611 0.37 0.23 0.27 0.08 0.3523 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452487 NA NA 0.385322 0.130504 NA 0.196 NA 2.898578 1362 6 119653186 119653186 G A intronic MAN1A1 NA NA NA intronic ENSG00000111885 NA NA NA NA NA 6q22.31 NA NA NA NA rs7754482 0.24 0.24 0.224 0.238219 0.3837 0.0427 0.245 0.2958 0.2076 0.38 0.02 0.28 0.26 0.3558 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269555 NA NA 0.362242 0.301714 NA 0.254 NA 2.898258 1362 2 96798510 96798510 G A intronic ASTL NA NA NA intronic ENSG00000188886 NA NA NA NA NA 2q11.1 NA NA NA NA rs1168966 0.41 0.41 0.345 0.358427 0.3579 0.6081 0.4625 0.202 0.2393 0.38 0.61 0.41 0.21 0.3822 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415121 NA NA 0.361744 0.221516 NA 0.449 NA 2.898156 1362 2 219294258 219294258 A C intronic VIL1 NA NA NA intronic ENSG00000127831 NA NA NA NA NA 2q35 NA NA NA NA rs6720403 0.28 0.28 0.289 0.269569 0.3767 0.0962 0.3501 0.2829 0.2628 0.37 0.1 0.33 0.3 0.3424 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049355 NA NA 0.382791 0.300045 NA 0.399 NA 2.898109 1362 1 237923053 237923053 C T intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA Name=c-Jun NA NA rs2253831 0.77 0.77 0.786 0.761581 0.6988 0.8204 0.7464 0.8275 0.6871 0.71 0.81 0.73 0.84 0.7109 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.703688 1.703688 NA 0.692336 0.800707 NA 0.79 NA 2.897964 1362 1 153215661 153215661 G T intergenic PRR9,LOR dist=23868;dist=16518 NA NA intergenic ENSG00000230779,ENSG00000203782 dist=17179;dist=16515 NA NA NA NA 1q21.3 NA NA NA NA rs6695899 0.4 0.4 0.349 0.420128 0.4354 0.4177 0.5749 0.2262 0.5593 0.42 0.45 0.52 0.19 NA 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003775 NA NA NA NA NA 0.399 NA 2.8979334 1362 17 26022936 26022936 G C intergenic LGALS9,NOS2 dist=46350;dist=60856 NA NA intergenic ENSG00000263604,ENSG00000263472 dist=11766;dist=7002 NA NA NA NA 17q11.2 NA NA NA NA rs4239248 0.51 0.51 0.496 0.513179 0.4354 0.4692 0.4971 0.6513 0.4632 0.43 0.49 0.49 0.68 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140643 NA NA NA NA NA 0.638 NA 2.8979334 1362 8 59498190 59498190 G A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs12677290 0.46 0.46 0.461 0.476238 0.3867 0.6012 0.2608 0.5976 0.4284 0.37 0.57 0.3 0.58 0.3761 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256881 NA NA 0.339302 0.561507 NA 0.413 NA 2.897898 1362 1 228447513 228447513 T G intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs7525075 0.31 0.31 0.266 0.296925 0.3569 0.1915 0.3761 0.3601 0.2025 0.36 0.18 0.41 0.32 0.3568 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732224 NA NA 0.389001 0.38242 NA 0.341 NA 2.897299 1362 1 228447519 228447519 T A intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs7525078 0.31 0.31 0.255 0.296925 0.3569 0.1915 0.3761 0.3601 0.2025 0.36 0.18 0.41 0.32 0.3568 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15455 NA NA 0.389001 0.38242 NA 0.341 NA 2.897299 1362 8 21550768 21550768 A C UTR3 GFRA2 NM_001165038:c.*22T>G,NM_001495:c.*22T>G,NM_001165039:c.*22T>G NA NA UTR3 ENSG00000168546 ENST00000524240:c.*22T>G,ENST00000306793:c.*1471T>G,ENST00000400782:c.*22T>G,ENST00000517328:c.*22T>G,ENST00000518077:c.*22T>G NA NA NA NA 8p21.3 NA NA NA NA rs15881 0.51 0.51 0.535 0.539936 0.4672 0.4782 0.4121 0.6876 0.5695 0.47 0.49 0.38 0.68 0.4951 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037821 NA NA 0.473842 0.666497 NA 0.558 NA 2.8971914 1362 7 16815786 16815786 C G intronic TSPAN13 NA NA NA intronic ENSG00000106537 NA NA NA NA NA 7p21.1 NA NA NA NA rs2290836 0.36 0.36 0.37 0.333466 0.3837 0.2024 0.3415 0.469 0.228 0.39 0.21 0.36 0.49 0.3424 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037955 NA NA 0.376744 0.442805 NA 0.413 NA 2.897156 1362 13 110859069 110859069 G C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs9588116 0.39 0.39 0.387 0.370008 0.3767 0.2292 0.4712 0.4924 0.271 0.38 0.24 0.43 0.53 0.3672 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579139 NA NA 0.360116 0.474807 NA 0.442 NA 2.895984 1362 3 165826426 165826426 A G intergenic BCHE,ZBBX dist=271173;dist=1131651 NA NA intergenic ENSG00000114200,ENSG00000242178 dist=271166;dist=51383 NA NA NA NA 3q26.1 NA NA NA NA rs4312620 0.42 0.42 0.408 0.423522 0.4374 0.3006 0.3905 0.6067 0.3119 0.43 0.33 0.39 0.53 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183895 NA NA NA NA NA 0.435 NA 2.8959334 1362 3 194783823 194783823 A G intergenic LOC100507391,XXYLT1 dist=280926;dist=5190 NA NA intergenic ENSG00000238031,ENSG00000173950 dist=230502;dist=5185 NA NA NA NA 3q29 NA NA NA NA rs11923729 0.63 0.63 0.621 0.63778 0.4374 0.9792 0.4323 0.6899 0.5675 0.44 0.98 0.4 0.7 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01186 NA NA NA NA NA 0.572 NA 2.8959334 1362 11 125478209 125478209 C T intronic STT3A NA NA NA intronic ENSG00000134910 NA NA NA NA NA 11q24.2 NA NA NA NA rs6590153 0.41 0.41 0.392 0.419329 0.3787 0.4335 0.2752 0.5227 0.409 0.37 0.38 0.31 0.57 0.3705 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692846 NA NA 0.355199 0.484325 NA 0.391 NA 2.895601 1362 19 33635877 33635877 T C intronic WDR88 NA NA NA intronic ENSG00000166359 NA NA NA NA NA 19q13.11 NA NA NA NA rs3848598 0.45 0.45 0.431 0.512181 0.3241 0.5248 0.5692 0.4977 0.6718 0.32 0.53 0.51 0.5 0.4434 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135301 NA NA 0.337093 0.481162 NA 0.42 NA 2.895407 1363 19 19545990 19545990 T C intronic GATAD2A NA NA NA intronic ENSG00000167491 NA NA NA NA NA 19p13.11 NA NA NA NA rs2916076 0.42 0.42 0.43 0.477636 0.337 0.3204 0.4813 0.6611 0.5337 0.33 0.31 0.46 0.67 0.4088 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334198 NA NA 0.359576 0.63074 NA 0.5 NA 2.894624 1363 11 117252489 117252489 T C exonic CEP164 NA synonymous SNV CEP164:NM_001271933:exon12:c.T1491C:p.P497P,CEP164:NM_014956:exon13:c.T1482C:p.P494P exonic ENSG00000110274 NA synonymous SNV ENSG00000110274:ENST00000278935:exon13:c.T1482C:p.P494P NA NA 11q23.3 NA NA NA NA rs897836 0.91 0.91 0.905 0.901358 0.9314 0.8452 0.9092 0.9599 0.8436 0.93 0.87 0.9 0.95 0.9124 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155452 NA NA 0.928455 0.950524 NA 0.819 NA 2.8944116 1363 7 131060277 131060277 G A intronic MKLN1 NA NA NA intronic ENSG00000128585 NA NA NA NA NA 7q32.3 NA NA NA NA rs3823557 0.37 0.37 0.37 0.364617 0.3419 0.5129 0.3631 0.3222 0.2935 0.36 0.5 0.3 0.31 0.3738 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546769 NA NA 0.390014 0.338175 NA 0.442 NA 2.894286 1363 12 6623389 6623389 T C intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 Score=911;Name=V$TGIF_01 NA NA NA rs4764605 0.7 0.7 0.687 0.694089 0.6978 0.5456 0.7767 0.7958 0.6472 0.7 0.54 0.78 0.83 0.7059 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758954 NA NA 0.702326 0.796868 NA 0.717 NA 2.893974 1363 7 130459242 130459242 C T intergenic KLF14,MIR29A dist=40354;dist=102264 NA NA intergenic ENSG00000174595,ENSG00000271522 dist=40354;dist=15725 NA NA NA NA 7q32.3 NA NA NA NA rs34748838 0.32 0.32 0.3 0.292732 0.4394 0.3254 0.3602 0.0552 0.3814 0.46 0.32 0.38 0.08 NA 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331287 NA NA NA NA NA 0.312 NA 2.8939334 1363 8 91940446 91940446 C T intronic NECAB1 NA NA NA intronic ENSG00000123119 NA NA NA NA NA 8q21.3 NA NA NA NA rs1002583 0.47 0.47 0.446 0.4375 0.3519 0.6062 0.5245 0.3835 0.363 0.35 0.64 0.49 0.43 0.4059 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064108 NA NA 0.348485 0.381615 NA 0.355 NA 2.893715 1363 11 6647978 6647978 C T intronic DCHS1 NA NA NA intronic ENSG00000166341 NA NA NA NA NA 11p15.4 NA NA NA NA rs4442534 0.36 0.36 0.364 0.320887 0.3748 0.4246 0.3401 0.2042 0.3027 0.38 0.45 0.34 0.24 0.363 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.697377 NA NA 0.368948 0.231486 NA 0.457 NA 2.893252 1363 19 33635853 33635853 G A intronic WDR88 NA NA NA intronic ENSG00000166359 NA NA NA NA NA 19q13.11 NA NA NA NA rs3848597 0.45 0.45 0.441 0.511581 0.3241 0.5258 0.5692 0.4947 0.6718 0.32 0.54 0.51 0.5 0.4463 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952856 NA NA 0.33686 0.477758 NA 0.391 NA 2.89274 1363 10 72614421 72614421 T C intronic SGPL1 NA NA NA intronic ENSG00000166224 NA NA NA NA NA 10q22.1 NA NA NA NA rs2171157 0.36 0.36 0.314 0.380791 0.337 0.4841 0.4092 0.2254 0.5092 0.35 0.46 0.39 0.23 0.3913 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846639 NA NA 0.379419 0.254426 ID=COSN163661;OCCURENCE=1(breast) 0.362 NA 2.892281 1363 1 203032922 203032922 C T intronic PPFIA4 NA NA NA intronic ENSG00000143847 NA NA NA NA NA 1q32.1 NA NA NA NA rs1416262 0.29 0.29 0.272 0.289736 0.3807 0.2054 0.2752 0.2451 0.3538 0.39 0.21 0.31 0.22 0.3503 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754601 NA NA 0.376746 0.274415 NA 0.319 NA 2.892254 1363 2 100081323 100081323 C T intronic REV1 NA NA NA intronic ENSG00000135945 NA NA NA NA NA 2q11.2 NA NA NA NA rs28369943 0.58 0.58 0.536 0.586661 0.5666 0.3621 0.7003 0.7549 0.5307 0.58 0.36 0.7 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.348807 NA NA 0.541169 0.729769 NA 0.558 NA 2.892231 1363 1 227696033 227696033 T C intergenic CDC42BPA,ZNF678 dist=190207;dist=55187 NA NA downstream ENSG00000235827 NA NA NA NA NA 1q42.13 NA NA NA NA rs2018654 0.49 0.49 0.462 0.464058 0.6083 0.4167 0.5749 0.3275 0.4703 0.61 0.45 0.55 0.32 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807948 NA NA NA NA NA 0.493 NA 2.8917 1363 1 227696110 227696110 G A intergenic CDC42BPA,ZNF678 dist=190284;dist=55110 NA NA downstream ENSG00000235827 NA NA NA NA NA 1q42.13 NA NA NA NA rs2018651 0.5 0.5 0.47 0.468051 0.6083 0.4127 0.5764 0.3495 0.4642 0.61 0.45 0.55 0.34 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617523 NA NA NA NA NA 0.543 NA 2.8917 1363 12 46759017 46759017 T A intronic SLC38A2 NA NA NA exonic ENSG00000134294 NA synonymous SNV ENSG00000134294:ENST00000551374:exon1:c.A33T:p.S11S NA NA 12q13.11 NA NA NA NA rs7968173 0.75 0.75 0.788 0.757588 0.6461 0.8016 0.6657 0.9486 0.6339 0.67 0.79 0.66 0.91 0.6749 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120658 NA NA 0.620698 0.898547 NA 0.681 NA 2.8916353 1363 10 114192285 114192285 G A intronic ZDHHC6 NA NA NA intronic ENSG00000023041 NA NA NA NA NA 10q25.2 NA NA NA NA rs2306158 0.35 0.35 0.321 0.352835 0.3827 0.5466 0.4481 0.0393 0.4785 0.39 0.52 0.43 0.04 0.3788 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693923 NA NA 0.346977 0.094644 NA 0.362 NA 2.891523 1363 16 18849858 18849858 C T intronic SMG1 NA NA NA intronic ENSG00000157106 NA NA NA NA NA 16p12.3 NA NA NA NA rs35168818 0.24 0.24 0.211 0.242212 0.3926 0.1091 0.2983 0.1346 0.3303 0.39 0.1 0.28 0.13 0.3245 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415207 NA NA 0.39155 0.178611 NA 0.341 NA 2.89135 1363 22 32482321 32482321 T G intronic SLC5A1 NA NA NA intronic ENSG00000100170 NA NA NA NA NA 22q12.3 NA NA NA NA rs5998233 0.41 0.41 0.432 0.454073 0.3588 0.1478 0.2997 0.885 0.3947 0.36 0.13 0.32 0.87 0.3742 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659996 NA NA 0.375698 0.805946 NA 0.471 NA 2.891302 1363 1 22913153 22913153 T C intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA NA NA NA rs638058 0.43 0.43 0.433 0.485224 0.3658 0.2937 0.3818 0.7284 0.5501 0.36 0.29 0.4 0.72 0.3955 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500701 NA NA 0.347558 0.666137 NA 0.406 NA 2.891142 1363 19 7506755 7506755 A G intronic ARHGEF18 NA NA NA intronic ENSG00000104880,ENSG00000268861 NA NA NA NA NA 19p13.2 NA NA NA NA rs2287910 0.46 0.46 0.431 0.48742 0.339 0.6012 0.4481 0.5303 0.4928 0.33 0.57 0.43 0.56 0.4057 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470828 NA NA 0.364884 0.51498 ID=COSN165706;OCCURENCE=1(breast) 0.514 NA 2.890416 1363 19 7506982 7506982 C G intronic ARHGEF18 NA NA NA intronic ENSG00000104880,ENSG00000268861 NA NA NA NA NA 19p13.2 NA NA NA NA rs10424311 0.46 0.46 0.44 0.484625 0.339 0.6012 0.4481 0.5189 0.4939 0.33 0.57 0.43 0.54 0.4053 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118074 NA NA 0.365349 0.50522 NA 0.493 NA 2.890351 1363 16 18839496 18839496 G C intronic SMG1 NA NA NA intronic ENSG00000157106 NA NA NA NA NA 16p12.3 NA NA NA NA rs12448649 0.23 0.23 0.205 0.242612 0.3917 0.1091 0.2983 0.1346 0.3333 0.39 0.09 0.28 0.13 0.3299 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621131 NA NA 0.388255 0.173351 NA 0.341 NA 2.890145 1363 1 32155911 32155911 G T intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs6425780 0.44 0.44 0.462 0.436502 0.5646 0.1508 0.3357 0.6929 0.3241 0.55 0.12 0.39 0.69 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232413 NA NA 0.545883 0.658237 ID=COSN163031;OCCURENCE=1(breast) 0.5 NA 2.889517 1363 11 125326026 125326026 C T intronic FEZ1 NA NA NA intronic ENSG00000149557 NA NA NA NA NA 11q24.2 NA NA NA NA rs2241514 0.32 0.32 0.317 0.338658 0.3678 0.3512 0.2579 0.2458 0.4785 0.36 0.35 0.28 0.23 0.3576 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258658 NA NA 0.38509 0.288505 NA 0.413 NA 2.88951 1363 8 22172702 22172702 C T intronic PIWIL2 NA NA NA intronic ENSG00000197181 NA NA NA NA NA 8p21.3 NA NA NA NA rs4397403 0.33 0.33 0.277 0.322883 0.3787 0.5317 0.379 0.0303 0.4059 0.38 0.47 0.4 0.05 0.3757 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360211 NA NA 0.356163 0.083069 NA 0.159 NA 2.889437 1363 11 124967487 124967487 T A UTR3 TMEM218 NM_001258247:c.*15A>T,NM_001080546:c.*15A>T,NM_001258246:c.*15A>T,NM_001258245:c.*15A>T,NM_001258239:c.*15A>T,NM_001258240:c.*15A>T,NM_001258241:c.*15A>T,NM_001258242:c.*15A>T,NM_001258243:c.*15A>T,NM_001258238:c.*15A>T,NM_001258244:c.*15A>T NA NA UTR3 ENSG00000150433 ENST00000455225:c.*15A>T,ENST00000531909:c.*15A>T,ENST00000528724:c.*15A>T,ENST00000532156:c.*178A>T,ENST00000279968:c.*15A>T,ENST00000532407:c.*15A>T,ENST00000526175:c.*15A>T,ENST00000527766:c.*15A>T,ENST00000529609:c.*178A>T,ENST00000529583:c.*15A>T,ENST00000527271:c.*15A>T NA NA NA NA 11q24.2 NA NA NA NA rs1043821 0.57 0.57 0.589 0.558506 0.4652 0.6687 0.3804 0.6929 0.4857 0.48 0.69 0.39 0.72 0.5039 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101964 NA NA 0.475343 0.660154 NA 0.543 NA 2.8888904 1363 19 14866698 14866698 C T intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs28420691 0.49 0.49 0.478 0.542532 0.338 0.5833 0.4323 0.6604 0.6299 0.36 0.55 0.41 0.66 0.4348 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682971 NA NA 0.338721 0.618702 NA 0.391 NA 2.888479 1363 8 6372172 6372172 T C intronic ANGPT2,MCPH1 NA NA NA intronic ENSG00000091879,ENSG00000147316 NA NA NA NA NA 8p23.1 NA NA NA NA rs2979671 0.31 0.31 0.32 0.325679 0.3897 0.2123 0.2925 0.3661 0.3456 0.39 0.19 0.32 0.34 0.3528 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606223 NA NA 0.36907 0.369042 NA 0.326 NA 2.88843 1363 1 42915753 42915753 T C intronic ZMYND12 NA NA NA intronic ENSG00000066185 NA NA NA NA NA 1p34.2 NA NA NA NA rs11210647 0.42 0.42 0.402 0.46246 0.3529 0.5992 0.3012 0.4501 0.5654 0.34 0.56 0.31 0.46 0.3961 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.064353 2.064353 NA 0.362791 0.427826 NA 0.355 NA 2.888209 1363 14 70712880 70712880 A C ncRNA_exonic ADAM21P1 NA NA NA ncRNA_exonic ENSG00000235812 NA NA NA NA NA 14q24.2 NA NA NA NA rs2296918 0.87 0.87 0.802 0.882588 0.8887 0.9048 0.9323 0.7935 0.9387 0.89 0.89 0.93 0.77 0.8898 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111732 NA 1 NA NA NA 0.812 NA 2.8881666 1363 3 45754749 45754749 G A intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2248991 0.43 0.43 0.402 0.404952 0.5636 0.2639 0.4539 0.4297 0.319 0.58 0.22 0.48 0.4 NA 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621386 NA NA 0.548712 0.438584 NA 0.42 NA 2.887688 1363 22 32590522 32590522 T C intronic RFPL2 NA NA NA intronic ENSG00000128253 NA NA NA NA NA 22q12.3 NA NA NA NA rs136484 0.32 0.32 0.317 0.340455 0.3877 0.1419 0.2349 0.5371 0.3057 0.37 0.13 0.25 0.5 0.3569 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305318 NA NA 0.368017 0.487548 NA 0.326 NA 2.887383 1363 15 62199342 62199342 T A intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs28413840 0.53 0.53 0.496 0.513578 0.5547 0.4712 0.6628 0.4773 0.4581 0.56 0.49 0.63 0.46 0.5583 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440392 NA NA NA NA NA 0.435 NA 2.887 1363 3 30885806 30885806 T C intronic GADL1 NA NA NA intronic ENSG00000144644 NA NA NA NA NA 3p24.1 NA NA NA NA rs1494738 0.47 0.47 0.461 0.520567 0.333 0.624 0.5173 0.5545 0.5634 0.34 0.6 0.49 0.51 0.4383 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006368 NA NA 0.342093 0.564458 NA 0.283 NA 2.886607 1363 18 10468453 10468453 C T intronic APCDD1 NA NA NA intronic ENSG00000154856 NA NA NA NA NA 18p11.22 NA NA NA NA rs539412 0.46 0.46 0.454 0.424121 0.3847 0.6389 0.4452 0.3048 0.3896 0.39 0.67 0.44 0.35 0.3789 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637553 NA NA 0.35 0.29823 NA 0.37 NA 2.8864 1363 17 42002446 42002446 T G intergenic FAM215A,PPY dist=7091;dist=15726 NA NA intergenic ENSG00000267166,ENSG00000267420 dist=2077;dist=2485 NA NA NA NA 17q21.31 NA NA NA NA rs1731900 0.24 0.24 0.21 0.204273 0.4473 0.0972 0.2738 0.0628 0.2065 0.45 0.07 0.29 0.07 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528577 NA NA NA NA NA 0.181 NA 2.8860334 1363 9 137687038 137687038 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs4072882 0.68 0.68 0.713 0.69389 0.5378 0.8284 0.5476 0.8661 0.5869 0.55 0.82 0.56 0.83 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406945 NA NA 0.576367 0.839595 NA 0.717 NA 2.885833 1363 6 33232521 33232521 C T intronic VPS52 NA NA NA intronic ENSG00000223501 NA NA NA NA NA 6p21.32 NA NA NA NA rs213201 0.39 0.39 0.418 0.38778 0.3847 0.5794 0.3703 0.2458 0.3978 0.37 0.61 0.32 0.22 0.3715 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436121 NA NA 0.35825 0.256122 NA 0.362 NA 2.88555 1363 22 22707443 22707443 T A intergenic LOC96610,ZNF280B dist=30119;dist=131329 NA NA intronic ENSG00000211647 NA NA NA NA NA 22q11.22 NA NA NA NA rs75417423 NA NA 0.199 0.195887 0.2217 0.2024 0.1585 0.1785 0.2127 NA NA NA NA 0.3419 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.401041 NA NA 0.217755 0.188788 NA 0.116 NA 2.8853117 1363 2 99998561 99998561 C T intronic EIF5B NA NA NA intronic ENSG00000158417 NA NA NA NA NA 2q11.2 NA NA NA NA rs2290256 0.59 0.59 0.559 0.589856 0.5696 0.3671 0.7032 0.7595 0.5307 0.58 0.37 0.7 0.76 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846069 NA NA 0.545255 0.737717 NA 0.572 NA 2.885145 1364 11 107852217 107852217 A G intergenic RAB39A,CUL5 dist=18009;dist=27191 NA NA intergenic ENSG00000179331,ENSG00000166266 dist=18009;dist=27242 NA NA NA NA 11q22.3 NA NA NA NA rs6588994 0.38 0.38 0.365 0.380791 0.4493 0.3224 0.2767 0.4145 0.3988 0.47 0.31 0.26 0.42 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670878 NA NA NA NA NA 0.333 NA 2.8840334 1364 8 72211834 72211834 A C intronic EYA1 NA NA NA intronic ENSG00000104313 NA NA NA NA NA 8q13.3 NA NA NA NA rs3779747 0.5 0.5 0.466 0.472045 0.3489 0.6954 0.5548 0.3941 0.4151 0.35 0.74 0.56 0.42 0.4091 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976552 NA NA 0.358655 0.380282 NA 0.58 NA 2.883345 1364 4 93511481 93511481 G A intronic GRID2 NA NA NA intronic ENSG00000152208 NA NA NA NA NA 4q22.1 NA NA NA NA rs2870639 0.38 0.38 0.353 0.407548 0.3618 0.4296 0.4078 0.3994 0.4427 0.35 0.38 0.42 0.4 0.3814 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496856 NA NA 0.373605 0.402633 NA 0.275 NA 2.883195 1364 15 101910511 101910511 A C intronic PCSK6 NA NA NA intronic ENSG00000140479 NA NA NA NA NA 15q26.3 NA NA NA NA rs2073591 0.49 0.49 0.46 0.452875 0.3579 0.6736 0.6268 0.3896 0.2853 0.36 0.69 0.57 0.38 0.4113 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382782 NA NA 0.347633 0.351053 NA 0.594 NA 2.883167 1364 17 10243589 10243589 C A intronic MYH13 NA NA NA ncRNA_intronic ENSG00000264067 NA NA NA NA NA 17p13.1 NA NA Name=6 NA rs4445936 0.79 0.79 0.761 0.754792 0.8141 0.8909 0.8444 0.6225 0.6687 0.81 0.87 0.85 0.61 0.8072 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298211 NA NA 0.828912 0.698396 NA 0.703 NA 2.8831213 1364 17 8739821 8739821 G C intronic PIK3R6 NA NA NA intronic ENSG00000174083 NA NA NA NA NA 17p13.1 NA NA NA NA rs12948724 0.45 0.45 0.441 0.475839 0.3429 0.5367 0.4308 0.5703 0.454 0.35 0.53 0.38 0.55 0.4113 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416497 NA NA 0.362802 0.541945 NA 0.478 NA 2.882998 1364 2 241815307 241815307 C T intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs12478859 0.22 0.22 0.242 0.239816 0.4085 0.2054 0.2709 0.1339 0.2229 0.32 0.15 0.25 0.12 0.3268 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589764 NA NA 0.38186 0.16364 NA NA NA 2.88284 1364 19 7879326 7879326 G A intergenic CLEC4GP1,EVI5L dist=23428;dist=15835 NA NA upstream ENSG00000269763 NA NA NA NA NA 19p13.2 NA NA NA NA rs12984528 0.56 0.56 0.527 0.569888 0.6173 0.6101 0.6499 0.2837 0.8098 0.62 0.64 0.64 0.31 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674246 NA NA NA NA NA 0.514 NA 2.8827 1364 3 179448383 179448383 C T intronic USP13 NA NA NA intronic ENSG00000058056 NA NA NA Score=265;Name=lod=16 NA 3q26.33 NA NA NA NA rs3213761 0.71 0.71 0.67 0.689696 0.6809 0.7629 0.7968 0.6369 0.6186 0.69 0.75 0.78 0.64 0.7133 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.849947 2.849947 NA 0.723256 0.648434 NA 0.725 NA 2.882544 1364 17 7245674 7245674 G A intronic ACAP1 NA NA NA intronic ENSG00000072818 NA NA NA NA NA 17p13.1 NA NA NA NA rs8069505 0.24 0.24 0.226 0.233227 0.3877 0.0258 0.2983 0.2322 0.2434 0.38 0.03 0.32 0.21 0.3154 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.756825 NA NA 0.414535 0.260781 NA 0.261 NA 2.882365 1364 1 181719679 181719679 C T intronic CACNA1E NA NA NA intronic ENSG00000198216 NA NA NA NA NA 1q25.3 NA NA NA NA rs704332 0.57 0.57 0.578 0.548522 0.5467 0.7192 0.513 0.4554 0.5256 0.55 0.75 0.53 0.42 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44974 NA NA 0.571025 0.479769 NA 0.623 NA 2.882275 1364 1 247322298 247322298 G T intronic ZNF124 NA NA NA intronic ENSG00000196418 NA NA NA NA NA 1q44 NA NA NA NA rs6675536 0.4 0.4 0.396 0.475639 0.3559 0.1329 0.3804 0.8351 0.5337 0.35 0.13 0.41 0.78 0.4006 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769789 NA NA 0.361447 0.747048 NA 0.406 NA 2.882053 1364 11 6647622 6647622 T C intronic DCHS1 NA NA NA intronic ENSG00000166341 NA NA NA NA NA 11p15.4 NA NA NA NA rs11827437 0.37 0.37 0.375 0.336661 0.3748 0.4246 0.3429 0.2625 0.3027 0.38 0.45 0.35 0.3 0.3742 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.48333 NA NA 0.368948 0.275329 NA 0.478 NA 2.882052 1364 17 38189049 38189049 G A intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA NA NA rs4072639 0.32 0.32 0.289 0.318291 0.3648 0.4246 0.4193 0.0673 0.4284 0.36 0.41 0.42 0.08 0.381 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392141 NA NA 0.372907 0.112801 NA 0.362 NA 2.881293 1364 1 186141301 186141301 G A ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs4651302 0.64 0.64 0.639 0.655551 0.4662 0.5863 0.6196 0.9539 0.544 0.48 0.6 0.62 0.94 0.5409 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012407 NA NA 0.445 0.872674 NA 0.551 NA 2.8812333 1364 1 204085609 204085609 A G intronic SOX13 NA NA NA intronic ENSG00000143842 NA NA NA NA NA 1q32.1 NA NA NA NA rs7551756 0.43 0.43 0.412 0.395567 0.3887 0.7292 0.3184 0.2489 0.3119 0.39 0.69 0.3 0.29 0.3782 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811973 NA NA 0.352138 0.267013 NA 0.493 NA 2.880962 1364 7 132709293 132709293 C T intronic CHCHD3 NA NA NA intronic ENSG00000106554 NA NA NA NA NA 7q33 NA NA NA NA rs13235276 0.4 0.4 0.354 0.35643 0.3777 0.3909 0.4856 0.3502 0.2157 0.39 0.41 0.44 0.36 0.3657 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638675 NA NA 0.375698 0.353155 NA 0.391 NA 2.880902 1364 2 64796847 64796847 A G intronic AFTPH NA NA NA intronic ENSG00000119844 NA NA NA NA NA 2p14 NA NA NA NA rs2287532 0.3 0.3 0.298 0.31849 0.3897 0.2044 0.3012 0.3003 0.3998 0.38 0.2 0.34 0.26 0.3517 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636242 NA NA 0.37814 0.322515 ID=COSN166118;OCCURENCE=1(breast) 0.319 NA 2.88046 1364 2 43514036 43514036 G A intronic THADA NA NA NA intronic ENSG00000115970 NA NA NA NA NA 2p21 NA NA NA NA rs11900952 0.44 0.44 0.48 0.485823 0.3608 0.2292 0.3919 0.8071 0.5112 0.36 0.26 0.41 0.82 0.3825 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.109642 2.109642 NA 0.376395 0.697999 NA 0.58 NA 2.880305 1364 16 5128902 5128902 T C intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 NA NA NA NA rs2110338 0.34 0.34 0.305 0.272963 0.4016 0.2937 0.3876 0.1725 0.1738 0.41 0.3 0.41 0.21 0.3399 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181929 NA NA 0.378543 0.212093 NA 0.196 NA 2.879957 1364 11 74407676 74407676 C T intronic CHRDL2 NA NA NA intronic ENSG00000054938 NA NA NA NA NA 11q13.4 NA Name=USF-1,AP-2gamma,BAF155 NA NA rs3819242 0.55 0.55 0.568 0.478834 0.7316 0.4573 0.5548 0.2708 0.4683 0.72 0.51 0.6 0.32 0.6404 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069727 NA NA 0.748311 0.3475 NA 0.514 NA 2.879689 1364 4 5843196 5843196 T G intronic CRMP1 NA NA NA intronic ENSG00000072832 NA NA NA NA NA 4p16.2 NA NA NA NA rs2286283 0.4 0.4 0.421 0.388179 0.3628 0.3304 0.2896 0.5885 0.273 0.38 0.37 0.3 0.57 0.3712 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009807 NA NA 0.387209 0.569224 NA 0.384 NA 2.878791 1364 4 88577573 88577573 A G intronic DMP1 NA NA NA ncRNA_intronic ENSG00000249001 NA NA NA NA NA 4q22.1 NA NA NA NA rs2615480 0.84 0.84 0.832 0.828874 0.7217 0.9028 0.8329 0.9281 0.726 0.74 0.9 0.84 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247313 NA NA 0.732872 0.881503 NA 0.855 NA 2.8787613 1364 20 62294015 62294015 C T ncRNA_intronic RTEL1-TNFRSF6B NA NA NA intronic ENSG00000026036,ENSG00000258366 NA NA NA NA NA 20q13.33 NA NA NA NA rs2297434 0.37 0.37 0.38 0.341653 0.5179 0.1171 0.4323 0.3759 0.2812 0.51 0.12 0.46 0.38 0.4425 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008647 NA NA 0.494417 0.388283 NA 0.37 NA 2.8785163 1364 1 248085341 248085341 T A downstream OR2T8 NA NA NA downstream ENSG00000177462 NA NA NA NA NA 1q44 NA NA NA NA rs4925773 0.65 0.65 0.622 0.625998 0.7883 0.4474 0.7248 0.6747 0.5072 0.78 0.43 0.73 0.65 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.625863 NA NA NA NA NA 0.703 NA 2.8783666 1364 2 130948303 130948303 T C downstream MZT2B NA NA NA downstream ENSG00000152082 NA NA NA NA NA 2q21.1 NA NA NA NA rs12612244 0.42 0.42 0.337 0.417332 0.3718 0.4425 0.4856 0.3782 0.4427 0.37 0.47 0.47 0.4 0.4166 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.088985 NA NA NA NA NA 0.536 NA 2.8782666 1364 9 138662309 138662309 A G intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA Name=c-Myc NA NA rs10776844 0.71 0.71 0.699 0.744209 0.7058 0.7113 0.6542 0.7799 0.8333 0.7 0.7 0.68 0.76 0.7126 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997473 NA NA 0.703372 0.77634 NA 0.717 NA 2.878228 1364 19 53263676 53263676 T C intergenic ZNF611,ZNF600 dist=25369;dist=5072 NA NA intergenic ENSG00000213020,ENSG00000189190 dist=25369;dist=3772 NA NA NA NA 19q13.41 NA NA NA NA rs8103837 0.48 0.48 0.422 0.483626 0.4553 0.4921 0.6023 0.5204 0.3701 0.45 0.5 0.55 0.47 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.801065 NA NA NA NA ID=COSN165914;OCCURENCE=1(breast) 0.464 NA 2.8780334 1364 3 166960278 166960278 G T intronic ZBBX NA NA NA intronic ENSG00000169064 NA NA NA NA NA 3q26.1 NA NA NA NA rs11923256 0.22 0.22 0.199 0.216254 0.3867 0.1111 0.2983 0.0295 0.3436 0.37 0.12 0.31 0.04 0.342 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274674 NA NA 0.393614 0.087924 NA 0.225 NA 2.877686 1364 4 48172218 48172218 C T intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA NA NA NA rs2271174 0.52 0.52 0.525 0.520767 0.3579 0.8929 0.4942 0.3381 0.5706 0.36 0.92 0.45 0.36 0.4222 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105305 NA NA 0.342577 0.332122 NA 0.449 NA 2.877323 1364 6 29069337 29069337 A T intergenic OR2B3,OR2J3 dist=14247;dist=10331 NA NA exonic ENSG00000204702 NA synonymous SNV ENSG00000204702:ENST00000377171:exon1:c.A618T:p.I206I NA NA 6p22.1 NA NA NA NA rs2394518 0.72 0.72 0.71 0.71246 0.8191 0.6071 0.7161 0.6475 0.7965 0.85 0.59 0.71 0.67 0.8038 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34742 NA NA NA NA NA 0.754 NA 2.8771 1364 1 207504669 207504669 G A intronic CD55 NA NA NA intronic ENSG00000196352 NA NA NA NA NA 1q32.2 NA Name=Pol2 NA NA rs2184476 0.66 0.66 0.665 0.621406 0.7435 0.4107 0.7032 0.6967 0.5532 0.74 0.47 0.7 0.71 0.6672 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.110825 2.110825 NA 0.712326 0.686337 NA 0.754 NA 2.876974 1364 X 1464184 1464184 G T intronic IL3RA NA NA NA intronic ENSG00000185291 NA NA NA NA NA Xp22.33 NA NA NA NA rs17884006 0.59 0.59 0.63672 NA NA NA NA NA NA 0.55 0.48 0.57 0.79 0.5715 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871478 NA NA 0.551676 0.740227 NA 0.551 NA 2.876824 1364 19 4355054 4355054 A G intronic MPND NA NA NA intronic ENSG00000008382 NA NA NA NA NA 19p13.3 NA NA NA NA rs2041773 0.62 0.62 0.58 0.652157 0.5437 0.7718 0.7233 0.6475 0.5961 0.52 0.74 0.67 0.6 0.5797 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.35818 1.35818 NA NA NA NA 0.572 NA 2.8766 1364 6 2838248 2838248 G A intronic SERPINB1 NA NA NA intronic ENSG00000021355 NA NA NA NA NA 6p25.2 NA Name=Pol2 NA NA rs316341 0.7 0.7 0.664 0.723043 0.7117 0.7431 0.7968 0.6611 0.7454 0.7 0.73 0.77 0.61 0.7072 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026845 NA NA 0.704884 0.673706 NA 0.696 NA 2.876216 1364 11 107431637 107431637 C A intronic ALKBH8 NA NA NA intronic ENSG00000137760 NA NA NA NA NA 11q22.3 NA NA NA NA rs662349 0.43 0.43 0.386 0.440296 0.3757 0.4097 0.3703 0.5688 0.4141 0.38 0.4 0.36 0.57 0.3889 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.354115 NA NA 0.35947 0.510227 NA 0.464 NA 2.87593 1364 8 87060672 87060672 A G downstream PSKH2 NA NA NA UTR3 ENSG00000147613 ENST00000276616:c.*19T>C NA NA NA NA 8q21.3 NA NA NA NA rs3802225 0.42 0.42 0.418 0.401158 0.3767 0.4583 0.3329 0.4402 0.363 0.37 0.49 0.35 0.46 0.3845 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903451 NA NA 0.362907 0.416478 NA 0.449 NA 2.875893 1364 17 6330153 6330153 C T intronic AIPL1 NA NA NA intronic ENSG00000129221 NA NA NA NA NA 17p13.2 NA NA NA NA rs925616 0.39 0.39 0.413 0.356629 0.3936 0.4812 0.2954 0.3109 0.2955 0.39 0.5 0.29 0.34 0.3615 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163545 NA NA 0.369186 0.35202 NA 0.326 NA 2.875714 1364 17 52555614 52555614 A G intergenic KIF2B,TOM1L1 dist=653041;dist=422438 NA NA downstream ENSG00000261965 NA NA NA NA NA 17q22 NA NA NA NA rs8076696 0.67 0.67 0.644 0.70607 0.6243 0.7688 0.6182 0.6861 0.8149 0.62 0.75 0.64 0.66 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876983 NA NA NA NA NA 0.558 NA 2.8757 1364 3 14949268 14949268 C T intronic FGD5 NA NA NA intronic ENSG00000154783 NA NA NA NA NA 3p25.1 Score=925;Name=V$LMO2COM_02 NA NA NA rs9818644 0.67 0.67 0.672 0.680312 0.7068 0.5923 0.683 0.7708 0.6196 0.7 0.55 0.69 0.74 0.6921 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495225 NA NA 0.725635 0.774783 NA 0.674 NA 2.875465 1364 14 81259078 81259078 G A intronic CEP128 NA NA NA intronic ENSG00000100629 NA NA NA NA NA 14q31.1 NA NA NA NA rs4523859 0.3 0.3 0.261 0.283946 0.3777 0.3333 0.3429 0.1188 0.318 0.38 0.32 0.36 0.1 0.3544 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792674 NA NA 0.392791 0.15025 NA 0.196 NA 2.875109 1364 18 6896450 6896450 C T intronic ARHGAP28 NA NA NA intronic ENSG00000088756 NA NA NA NA NA 18p11.31 NA NA NA NA rs11081282 0.59 0.59 0.596 NA NA NA NA NA NA 0.55 0.68 0.56 0.57 0.5629 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148211 NA NA 0.562093 0.58443 NA 0.572 NA 2.875007 1365 10 100152373 100152373 T G intronic PYROXD2 NA NA NA intronic ENSG00000119943 NA NA NA NA NA 10q24.2 NA NA NA NA rs6584192 0.47 0.47 0.46 0.510383 0.334 0.5615 0.4741 0.6021 0.5409 0.34 0.57 0.45 0.58 0.4376 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334707 NA NA 0.354302 0.552202 NA 0.384 NA 2.874098 1365 11 117059552 117059552 G A intronic SIDT2 NA NA NA intronic ENSG00000149577 NA NA NA NA NA 11q23.3 Score=756;Name=V$BRACH_01 NA NA NA rs474339 0.54 0.54 0.51 0.478235 0.7306 0.373 0.6311 0.3396 0.4059 0.73 0.37 0.67 0.35 0.6377 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239807 NA NA 0.757914 0.421854 NA 0.565 NA 2.873786 1365 19 49621592 49621592 G C intronic LIN7B NA NA NA intronic ENSG00000104863 NA NA NA NA NA 19q13.33 NA NA NA NA rs1060967 0.35 0.35 0.324 0.366414 0.3638 0.2054 0.3818 0.4501 0.411 0.36 0.21 0.42 0.43 0.3796 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.905189 NA NA 0.383605 0.437131 NA 0.326 NA 2.872995 1365 10 101655982 101655982 G A intronic DNMBP NA NA NA intronic ENSG00000107554 NA NA NA NA NA 10q24.2 NA NA NA NA rs3740058 0.28 0.28 0.251 0.274561 0.3946 0.2183 0.3256 0.1589 0.3292 0.38 0.22 0.36 0.13 0.3493 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.951804 2.951804 NA 0.383488 0.200409 NA 0.312 NA 2.872612 1365 16 8996377 8996377 C T intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA NA NA rs2447918 0.35 0.35 0.305 0.341653 0.3728 0.2569 0.4049 0.3162 0.3865 0.38 0.26 0.46 0.34 0.379 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434556 NA NA 0.375814 0.292255 NA 0.37 NA 2.872386 1365 12 120791042 120791042 G A intronic MSI1 NA NA NA intronic ENSG00000135097 NA NA NA NA NA 12q24.31 NA NA NA NA rs1007469 0.46 0.46 0.454 0.467252 0.5746 0.4722 0.6441 0.1551 0.6483 0.57 0.47 0.62 0.18 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.481041 1.481041 NA 0.553111 0.20737 NA 0.399 NA 2.872289 1365 11 72296039 72296039 G T intronic PDE2A NA NA NA ncRNA_exonic ENSG00000256633 NA NA NA NA NA 11q13.4 NA NA NA NA rs907850 0.33 0.33 0.309 0.313898 0.5099 0.245 0.3184 0.1664 0.3793 0.49 0.22 0.37 0.18 0.4287 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222972 NA NA 0.522595 0.245 NA 0.348 NA 2.8721383 1365 12 57627717 57627717 G A intronic SHMT2 NA NA NA intronic ENSG00000182199 NA NA NA NA NA 12q13.3 NA NA NA NA rs34095989 0.32 0.32 0.334 0.278155 0.4016 0.256 0.281 0.1498 0.3456 0.41 0.34 0.33 0.16 0.3314 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.532301 NA NA 0.395 0.193827 NA 0.348 NA 2.872 1365 11 1159150 1159150 A T intergenic MUC2,MUC5B dist=54733;dist=85145 NA NA intronic ENSG00000215182 NA NA NA NA NA 11p15.5 NA NA NA NA rs28542750 0.87 0.87 0.877 0.891174 0.7952 0.997 0.9035 0.8389 0.9427 0.8 0.99 0.88 0.84 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326197 NA NA NA NA NA 0.855 NA 2.8714667 1365 14 22580570 22580570 C G intergenic OR4E2,DAD1 dist=446332;dist=453237 NA NA intronic ENSG00000211806 NA NA NA NA NA 14q11.2 NA NA NA NA rs1040301 0.76 0.76 0.734 0.748602 0.7952 0.7252 0.8458 0.708 0.7106 0.79 0.75 0.84 0.68 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042213 NA NA NA NA NA 0.754 NA 2.8714667 1365 3 119912297 119912297 C A intronic GPR156 NA NA NA intronic ENSG00000175697 NA NA NA NA NA 3q13.33 NA NA NA NA rs902793 0.38 0.38 0.381 0.383387 0.3867 0.3204 0.2637 0.4947 0.3793 0.38 0.33 0.28 0.49 0.3608 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079255 NA NA 0.381395 0.462551 NA 0.428 NA 2.871105 1365 20 31608250 31608250 C A intronic BPIFB2 NA NA NA intronic ENSG00000078898 NA NA NA NA NA 20q11.21 NA NA NA NA rs6057703 0.42 0.42 0.445 0.452276 0.3917 0.1756 0.3948 0.8064 0.362 0.39 0.17 0.39 0.77 0.3874 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522606 NA NA 0.35 0.725601 ID=COSN166518;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.572 NA 2.8709 1365 7 100373271 100373271 G T intronic ZAN NA NA NA intronic ENSG00000146839 NA NA NA NA NA 7q22.1 NA NA NA NA rs540330 0.47 0.47 0.435 0.445088 0.3419 0.7867 0.5418 0.2126 0.4448 0.35 0.82 0.52 0.21 0.4247 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.524614 NA NA 0.36275 0.225335 NA 0.297 NA 2.87065 1365 18 10539739 10539739 A G intronic NAPG NA NA NA intronic ENSG00000134265 NA NA NA NA NA 18p11.22 NA NA NA NA rs640832 0.5 0.5 0.548 0.502995 0.3956 0.4663 0.3991 0.8033 0.319 0.39 0.49 0.42 0.75 0.3842 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199616 NA NA 0.349562 0.716941 NA 0.464 NA 2.870638 1365 8 85441856 85441856 T A intronic RALYL NA NA NA intronic ENSG00000184672 NA NA NA NA NA 8q21.2 NA NA NA NA rs13248532 0.35 0.35 0.352 0.370807 0.3588 0.3175 0.379 0.3064 0.5194 0.36 0.33 0.34 0.36 0.3882 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155781 NA NA 0.382531 0.305103 NA 0.355 NA 2.870469 1365 16 84493032 84493032 C T intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs3743654 0.56 0.56 0.529 0.558506 0.4632 0.6984 0.5591 0.4584 0.6472 0.46 0.73 0.53 0.52 0.5167 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413582 NA NA 0.483104 0.437725 NA 0.5 NA 2.8703293 1365 13 110862268 110862268 A C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs2166207 0.39 0.39 0.403 0.379992 0.3787 0.2302 0.4784 0.5227 0.273 0.39 0.24 0.43 0.56 0.3761 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030127 NA NA 0.37555 0.485549 NA 0.471 NA 2.86965 1365 7 130027633 130027633 A G intronic CPA1 NA NA NA intronic ENSG00000091704 NA NA NA NA NA 7q32.2 NA NA NA NA rs10263705 0.42 0.42 0.409 0.416334 0.3907 0.4107 0.4597 0.5076 0.2945 0.38 0.4 0.46 0.47 0.3868 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.000757 2.000757 NA 0.353023 0.496823 NA 0.341 NA 2.869477 1365 19 5047691 5047691 G A intronic KDM4B NA NA NA intronic ENSG00000127663 NA NA NA NA NA 19p13.3 NA NA NA NA rs2620818 0.26 0.26 0.249 0.271765 0.4056 0.0565 0.3386 0.2723 0.3078 0.38 0.05 0.3 0.29 0.3298 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547541 NA NA 0.395581 0.255561 NA 0.341 NA 2.869019 1365 12 48375965 48375965 C T intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs2276457 0.43 0.43 0.412 0.446286 0.3757 0.5556 0.3473 0.4395 0.4857 0.37 0.57 0.35 0.4 0.377 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552722 NA NA 0.378605 0.412165 NA 0.428 NA 2.868695 1365 10 99422648 99422648 A G intronic PI4K2A NA NA NA intronic ENSG00000155252,ENSG00000249967 NA NA NA NA NA 10q24.2 NA NA NA NA rs7905087 0.37 0.37 0.385 0.406949 0.3539 0.3343 0.304 0.4985 0.4857 0.35 0.31 0.29 0.52 0.3864 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676037 NA NA 0.391047 0.478665 ID=COSN163728;OCCURENCE=1(breast) 0.457 NA 2.868653 1365 19 4355035 4355035 A G intronic MPND NA NA NA intronic ENSG00000008382 NA NA NA NA NA 19p13.3 NA NA NA NA rs2041772 0.66 0.66 0.464 0.688099 0.5437 0.7708 0.7363 0.7693 0.6074 0.53 0.74 0.68 0.75 0.5879 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856125 NA NA NA NA NA 0.63 NA 2.8684 1365 3 52551284 52551284 G T intronic STAB1 NA NA NA intronic ENSG00000010327 NA NA NA NA NA 3p21.1 NA NA NA NA rs67409736 0.61 0.61 0.611 0.58127 0.5656 0.621 0.6556 0.6997 0.3436 0.56 0.62 0.65 0.63 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512631 NA NA 0.567477 0.649201 NA 0.543 NA 2.866923 1365 18 23866482 23866482 C T intronic TAF4B NA NA NA intronic ENSG00000141384 NA NA NA NA NA 18q11.2 NA NA NA NA rs8089000 0.35 0.35 0.371 0.333666 0.4066 0.1895 0.2867 0.5106 0.2014 0.42 0.17 0.28 0.51 0.3481 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.138651 2.138651 NA 0.378436 0.474581 NA 0.406 NA 2.866864 1365 4 122257950 122257950 A G intronic QRFPR NA NA NA intronic ENSG00000186867 NA NA NA NA NA 4q27 NA NA NA NA rs2302309 0.33 0.33 0.314 0.276358 0.4016 0.2688 0.3213 0.1899 0.2403 0.41 0.29 0.35 0.23 0.3521 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243024 NA NA 0.379651 0.215161 ID=COSN167322;OCCURENCE=1(large_intestine) 0.304 NA 2.866649 1365 3 122843212 122843212 C T intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA NA NA 3q21.1 NA NA NA NA rs2305051 0.47 0.47 0.456 NA NA NA NA NA NA 0.57 0.41 0.6 0.3 0.5506 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563451 NA NA 0.583256 0.364503 NA 0.558 NA 2.866144 1365 7 121960438 121960438 C T intronic CADPS2 NA NA NA intronic ENSG00000081803 NA NA NA NA NA 7q31.32 NA NA NA NA rs1443749 0.37 0.37 0.352 0.374002 0.3648 0.4623 0.4294 0.2617 0.4049 0.37 0.45 0.38 0.25 0.3885 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299443 NA NA 0.381005 0.276994 NA 0.348 NA 2.865695 1365 9 37302155 37302155 C T intronic ZCCHC7 NA NA NA intronic ENSG00000147905 NA NA NA NA NA 9p13.2 NA NA NA NA rs10814518 0.28 0.28 0.258 0.26278 0.3718 0.2183 0.3112 0.1263 0.3466 0.38 0.2 0.35 0.19 0.3509 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329348 NA NA 0.411874 0.160763 ID=COSN168542;OCCURENCE=1(large_intestine) 0.29 NA 2.865426 1366 7 134880884 134880884 G C intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA NA Name=3 NA rs292578 0.65 0.65 0.635 0.654553 0.7028 0.6131 0.8026 0.497 0.7556 0.71 0.59 0.8 0.53 0.7096 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.472072 3.472072 NA 0.722674 0.55084 NA 0.703 NA 2.864926 1366 18 12246495 12246495 C G intergenic C18orf61,CIDEA dist=21786;dist=7823 NA NA upstream ENSG00000267663 NA NA NA NA NA 18p11.21 NA NA NA NA rs4796954 0.57 0.57 0.575 0.544129 0.6352 0.7411 0.4697 0.2927 0.6401 0.64 0.77 0.48 0.28 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850596 NA NA NA NA NA 0.522 NA 2.8648 1366 11 12315407 12315407 G C exonic MICALCL NA synonymous SNV MICALCL:NM_032867:exon3:c.G429C:p.G143G exonic ENSG00000133808 NA synonymous SNV ENSG00000133808:ENST00000256186:exon3:c.G429C:p.G143G NA NA 11p15.3 NA NA NA NA rs10741579 0.94 0.94 0.939 0.921725 0.9463 0.9415 0.951 0.9191 0.8589 0.95 0.95 0.94 0.92 0.9265 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016838 NA NA 0.929282 0.926251 NA 0.964 NA 2.8645846 1366 3 8669361 8669361 C A intronic SSUH2 NA NA NA UTR3 ENSG00000125046 ENST00000455157:c.*1131G>T NA NA NA NA 3p26.1 NA NA NA NA rs1533001 0.48 0.48 0.504 0.460064 0.4145 0.6458 0.3588 0.413 0.4509 0.42 0.68 0.33 0.43 0.4895 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296182 NA NA 0.398372 0.406037 NA 0.413 NA 2.8642947 1366 7 142139259 142139259 G A intergenic LOC730441,MTRNR2L6 dist=167191;dist=234872 NA NA downstream ENSG00000211727 NA NA NA NA NA 7q34 Score=699;Name=V$PPARG_02 NA NA NA rs361374 0.53 0.53 0.486 0.534744 0.5527 0.7659 0.5101 0.3359 0.5644 0.53 0.74 0.46 0.34 0.5369 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565463 NA NA 0.546172 0.354608 NA 0.464 NA 2.864228 1366 22 50724190 50724190 G T intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs28604596 0.63 0.63 0.6 0.616813 0.6491 0.4841 0.5648 0.6815 0.6697 0.68 0.52 0.59 0.73 0.487 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12536 NA NA NA NA NA 0.007 NA 2.8639 1366 9 5805001 5805001 A G intronic ERMP1 NA NA NA intronic ENSG00000099219 NA NA NA NA NA 9p24.1 NA NA NA NA rs10975289 0.42 0.42 0.383 0.408347 0.341 0.7282 0.4323 0.1286 0.5092 0.36 0.76 0.44 0.12 0.4439 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952982 NA NA 0.351361 0.14276 NA 0.37 NA 2.863739 1366 1 28206588 28206588 T C intronic THEMIS2 NA NA NA intronic ENSG00000130775 NA NA NA NA NA 1p35.3 NA NA NA NA rs12568383 0.3 0.3 0.263 0.273962 0.3797 0.3919 0.2608 0.0658 0.3344 0.39 0.38 0.3 0.09 0.3673 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350835 NA NA 0.389651 0.11212 NA 0.21 NA 2.863349 1366 17 19643810 19643810 G A intronic ALDH3A1 NA NA NA intronic ENSG00000108602 NA NA NA NA NA 17p11.2 NA NA NA NA rs3826507 0.32 0.32 0.3 0.294129 0.3917 0.3274 0.3919 0.0802 0.3793 0.4 0.35 0.38 0.1 0.3562 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050151 NA NA 0.388953 0.118021 NA 0.29 NA 2.863147 1366 16 31384554 31384554 T C intronic ITGAX NA NA NA intronic ENSG00000140678 NA NA NA NA NA 16p11.2 NA NA NA NA rs2070896 0.45 0.45 0.435 0.432508 0.3807 0.6458 0.4207 0.3132 0.4356 0.37 0.67 0.41 0.33 0.4015 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055466 NA NA 0.355581 0.325899 NA 0.377 NA 2.862219 1366 7 121960407 121960407 T G intronic CADPS2 NA NA NA intronic ENSG00000081803 NA NA NA NA NA 7q31.32 NA NA NA NA rs1348442 0.37 0.37 0.349 0.375399 0.3658 0.4643 0.4294 0.2632 0.407 0.37 0.45 0.38 0.26 0.3906 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.099346 NA NA 0.381499 0.277027 NA 0.384 NA 2.862101 1366 12 125509502 125509502 C T intronic BRI3BP NA NA NA intronic ENSG00000184992 NA NA NA NA NA 12q24.31 NA NA NA NA rs7303493 0.43 0.43 0.45 0.466054 0.326 0.4048 0.4769 0.6339 0.4387 0.32 0.38 0.49 0.62 0.4167 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479122 NA NA 0.395441 0.606849 NA 0.572 NA 2.861859 1366 10 95346938 95346938 G A intronic FFAR4 NA NA NA intronic ENSG00000186188 NA NA NA NA NA 10q23.33 NA NA NA NA rs11187539 0.37 0.37 0.366 0.384385 0.3807 0.1042 0.2839 0.6286 0.4182 0.38 0.11 0.33 0.68 0.3694 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736862 NA NA 0.388256 0.591322 NA 0.551 NA 2.861644 1366 2 36806021 36806021 G A intronic FEZ2 NA NA NA intronic ENSG00000171055 NA NA NA NA NA 2p22.2 NA NA NA NA rs2072534 0.48 0.48 0.508 0.472045 0.3956 0.6468 0.3357 0.5741 0.3292 0.4 0.62 0.32 0.58 0.3881 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689097 NA NA 0.354721 0.522336 ID=COSN166062;OCCURENCE=1(breast) 0.551 NA 2.861579 1366 16 4254523 4254523 C T intronic SRL NA NA NA intronic ENSG00000185739 NA NA NA NA NA 16p13.3 NA NA NA NA rs60137128 0.29 0.29 0.261 0.27496 0.4006 0.2411 0.2997 0.1846 0.2853 0.4 0.19 0.3 0.23 0.3462 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869639 NA NA 0.391813 0.214739 NA 0.319 NA 2.861387 1366 4 122261785 122261785 C T intronic QRFPR NA NA NA intronic ENSG00000186867 NA NA NA NA NA 4q27 NA NA NA NA rs2276955 0.33 0.33 0.302 0.276757 0.4026 0.2688 0.3213 0.1906 0.2403 0.41 0.29 0.35 0.23 0.3572 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688073 NA NA 0.37907 0.214934 NA 0.304 NA 2.86113 1366 19 49519793 49519793 A G intronic LHB NA NA NA intronic ENSG00000104826 NA NA NA NA NA 19q13.33 NA NA NA NA rs2387588 0.48 0.48 0.143 0.571086 0.5825 0.3313 0.621 0.7345 0.5501 0.51 0.3 0.54 0.62 0.5573 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736774 NA NA NA NA NA 0.471 NA 2.8602 1366 2 170668813 170668813 C T intronic METTL5 NA NA NA UTR3 ENSG00000138382 ENST00000410097:c.*10G>A NA NA NA NA 2q31.1 NA NA NA NA rs3731674 0.51 0.51 0.473 0.50599 0.6769 0.4474 0.6916 0.3374 0.4867 0.64 0.46 0.64 0.28 0.6298 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71257 NA NA NA NA NA 0.551 NA 2.8599667 1366 12 121615283 121615283 T C intronic P2RX7 NA NA NA intronic ENSG00000089041 NA NA NA NA NA 12q24.31 NA NA NA NA rs1653598 0.31 0.31 0.329 0.322684 0.3837 0.1419 0.2003 0.4592 0.3487 0.39 0.13 0.21 0.47 0.3586 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544863 NA NA 0.397791 0.455969 NA 0.413 NA 2.859909 1366 16 81062157 81062157 T C intronic CENPN NA NA NA ncRNA_intronic ENSG00000260213 NA NA NA NA NA 16q23.2 NA NA NA NA rs114305409 NA NA NA 0.607428 0.7594 0.5397 0.6369 0.3775 0.8108 NA NA NA NA 0.7141 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162798 NA NA NA NA NA NA NA 2.8598333 1366 6 29874719 29874719 G T intergenic HLA-H,HCG4B dist=15863;dist=17650 NA NA downstream ENSG00000233677,ENSG00000235963 NA NA NA NA NA 6p22.1 NA NA NA NA rs9259609 0.62 0.62 0.639 0.631589 0.6402 0.5556 0.6801 0.6793 0.6022 0.63 0.53 0.61 0.73 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710106 NA NA NA NA NA 0.623 NA 2.8598 1366 18 34297753 34297753 C T intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs3809994 0.38 0.38 0.378 0.419329 0.3479 0.4355 0.4813 0.3495 0.5266 0.34 0.45 0.44 0.34 0.3991 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265764 NA NA 0.393256 0.35951 NA 0.37 NA 2.859744 1366 15 57138501 57138501 G A intergenic ZNF280D,LOC145783 dist=112714;dist=39867 NA NA intronic ENSG00000137871 NA NA NA NA NA 15q21.3 NA NA NA NA rs1647385 0.56 0.56 0.532 0.51258 0.8072 0.5139 0.5461 0.1649 0.6544 0.83 0.49 0.58 0.19 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49638 NA NA NA NA NA 0.471 NA 2.8594667 1366 10 42644664 42644664 A C intergenic NONE,LOC441666 dist=NONE;dist=182650 NA NA downstream ENSG00000229485 NA NA NA NA NA 10q11.21 NA NA NA NA rs10793629 NA NA 0.788 0.65595 0.6421 0.6052 0.5994 0.7277 0.6656 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579205 NA NA NA NA NA NA NA 2.8579 1366 13 37014366 37014366 G A intronic CCNA1 NA NA NA intronic ENSG00000133101 NA NA NA NA NA 13q13.3 NA NA NA NA rs2282411 0.35 0.35 0.306 0.339058 0.3738 0.4782 0.4856 0.1286 0.3405 0.38 0.45 0.47 0.12 0.3805 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043528 NA NA 0.387997 0.165002 NA 0.283 NA 2.857703 1366 14 106307418 106307418 G A intergenic ELK2AP,KIAA0125 dist=168274;dist=76420 NA NA exonic ENSG00000211898 NA unknown UNKNOWN NA NA 14q32.33 NA Name=Pol2,ERalpha_a NA NA rs2753492 0.67 0.67 0.67 0.650759 0.8062 0.502 0.804 0.6377 0.5532 0.79 0.46 0.79 0.67 0.7304 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334866 NA NA 0.772716 0.64743 NA 0.558 NA 2.8573507 1366 9 141030078 141030078 G A intergenic CACNA1B,TUBBP5 dist=11002;dist=14487 NA NA intergenic ENSG00000148408,ENSG00000229926 dist=11002;dist=1469 NA NA NA NA 9q34.3 NA NA NA NA rs11137380 0.33 0.33 0.272 0.319289 0.4761 0.2996 0.5447 0.0446 0.3896 0.48 0.26 0.49 0.07 NA 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572122 NA NA NA NA NA 0.246 NA 2.8572334 1366 14 102891646 102891646 A G intronic TECPR2 NA NA NA intronic ENSG00000196663 NA NA NA NA NA 14q32.31 NA NA NA NA rs4906197 0.29 0.29 0.302 0.305511 0.3787 0.2044 0.2478 0.3169 0.3599 0.37 0.2 0.27 0.29 0.3627 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.257406 NA NA 0.401395 0.307762 NA 0.348 NA 2.857205 1366 16 30093779 30093779 C G intronic PPP4C NA NA NA intronic ENSG00000149923 NA NA NA NA NA 16p11.2 NA NA NA NA rs2278557 0.32 0.32 0.315 0.32528 0.3827 0.3641 0.2983 0.1641 0.4632 0.38 0.36 0.32 0.16 0.3663 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2617 NA NA 0.393837 0.171598 NA 0.312 NA 2.857163 1366 8 74204653 74204653 A T intronic RPL7 NA NA NA intronic ENSG00000147604 NA NA NA NA NA 8q21.11 NA NA NA NA rs2070764 0.44 0.44 0.397 0.486621 0.3618 0.5288 0.4957 0.447 0.6186 0.35 0.51 0.48 0.46 0.4316 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266599 NA NA 0.3496 0.403918 NA 0.609 NA 2.857 1366 14 50619927 50619927 A G intronic SOS2 NA NA NA intronic ENSG00000100485 NA NA NA NA NA 14q21.3 NA NA NA NA rs11628935 0.27 0.27 0.279 0.247204 0.4076 0.2192 0.2478 0.0915 0.3211 0.41 0.2 0.28 0.13 0.3359 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774116 NA NA 0.399534 0.145388 NA 0.239 NA 2.856966 1366 19 17892591 17892591 A G exonic FCHO1 NA synonymous SNV FCHO1:NM_001161359:exon21:c.A1749G:p.T583T,FCHO1:NM_001161358:exon22:c.A1899G:p.T633T,FCHO1:NM_001161357:exon23:c.A1899G:p.T633T,FCHO1:NM_015122:exon23:c.A1899G:p.T633T exonic ENSG00000130475 NA synonymous SNV ENSG00000130475:ENST00000597512:exon19:c.A1920G:p.T640T,ENSG00000130475:ENST00000252771:exon21:c.A1899G:p.T633T,ENSG00000130475:ENST00000389133:exon21:c.A1899G:p.T633T,ENSG00000130475:ENST00000595033:exon21:c.A1749G:p.T583T,ENSG00000130475:ENST00000596951:exon21:c.A1899G:p.T633T,ENSG00000130475:ENST00000539407:exon22:c.A1899G:p.T633T,ENSG00000130475:ENST00000600676:exon22:c.A1899G:p.T633T,ENSG00000130475:ENST00000594202:exon23:c.A1899G:p.T633T,ENSG00000130475:ENST00000596536:exon23:c.A1899G:p.T633T NA NA 19p13.11 NA NA NA NA rs2042298 0.87 0.87 0.855 0.85643 0.9543 0.8264 0.8934 0.7489 0.9059 0.96 0.83 0.9 0.77 0.911 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097046 NA NA 0.944535 0.789605 NA 0.884 NA 2.8568316 1366 15 41865488 41865488 C T intronic TYRO3 NA NA NA intronic ENSG00000092445 NA NA NA NA NA 15q15.1 NA NA NA NA rs2246444 0.47 0.47 0.457 0.446685 0.3499 0.7837 0.3689 0.4024 0.3139 0.34 0.8 0.38 0.37 0.4163 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927484 NA NA 0.376977 0.414662 NA 0.5 NA 2.856823 1366 20 4162411 4162411 T C intronic SMOX NA NA NA intronic ENSG00000088826 NA NA NA NA NA 20p13 NA NA NA NA rs1124983 0.34 0.34 0.323 0.293131 0.3688 0.1905 0.3703 0.4017 0.1196 0.39 0.15 0.38 0.44 0.3685 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.259378 3.259378 NA 0.40593 0.415343 NA 0.312 NA 2.85677 1366 3 101404813 101404813 A G intronic RPL24 NA NA NA intronic ENSG00000114391 NA NA NA NA NA 3q12.3 NA NA NA NA rs2303473 0.34 0.34 0.307 0.338259 0.4016 0.3651 0.3948 0.1808 0.4182 0.42 0.35 0.38 0.18 0.3669 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767181 NA NA 0.375116 0.208447 NA 0.312 NA 2.856384 1366 1 177199323 177199323 C T intronic FAM5B NA NA NA intronic ENSG00000198797 NA NA NA NA NA 1q25.2 NA NA NA NA rs3176442 0.4 0.4 0.37 0.397564 0.3757 0.5298 0.4135 0.2133 0.5215 0.38 0.56 0.39 0.24 0.4027 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653168 NA NA 0.365237 0.237671 NA 0.348 NA 2.856363 1366 16 78198192 78198192 T C intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.1 NA NA Name=20 NA rs2303191 0.79 0.79 0.796 0.789137 0.6809 0.9087 0.8127 0.8003 0.7454 0.69 0.91 0.8 0.78 0.7482 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.049121 NA NA 0.715165 0.804145 NA 0.79 NA 2.855735 1366 3 11300707 11300707 T C UTR5 HRH1 NM_001098213:c.-17T>C,NM_001098212:c.-17T>C,NM_001098211:c.-17T>C,NM_000861:c.-17T>C NA NA UTR5 ENSG00000196639 ENST00000438284:c.-17T>C,ENST00000431010:c.-17T>C,ENST00000413416:c.-17T>C,ENST00000397056:c.-17T>C NA NA NA NA 3p25.3 NA Name=CTCF NA NA rs901865 0.82 0.82 0.795 0.823083 0.8091 0.9117 0.8674 0.6664 0.9264 0.83 0.92 0.85 0.68 0.8426 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.505345 NA NA 0.82593 0.685429 NA 0.87 NA 2.8557034 1366 18 50832102 50832102 A G intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs1431196 0.2 0.2 0.181 0.161741 0.3996 0.0337 0.2277 0.0431 0.1626 0.41 0.03 0.27 0.04 0.3183 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.206744 NA NA 0.426512 0.112347 NA 0.188 NA 2.855588 1367 7 94146975 94146975 T G intronic CASD1 NA NA NA intronic ENSG00000127995 NA NA NA NA NA 7q21.3 NA NA NA NA rs2301646 0.3 0.3 0.278 0.30651 0.3897 0.3353 0.3386 0.0666 0.4928 0.39 0.31 0.35 0.11 0.3709 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.123124 2.123124 NA 0.384767 0.120517 ID=COSM150328;OCCURENCE=1(stomach) 0.435 NA 2.854633 1367 1 43901011 43901011 A C intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA NA NA rs2039531 0.26 0.26 0.242 0.198882 0.4225 0.0823 0.379 0.1006 0.0941 0.42 0.08 0.41 0.13 0.32 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.216287 2.216287 NA 0.403372 0.139809 NA 0.333 NA 2.854128 1367 19 35420841 35420841 A G UTR5 ZNF30 NM_001099438:c.-11A>G,NM_001099437:c.-11A>G,NM_194325:c.-11A>G NA NA UTR5 ENSG00000168661 ENST00000439785:c.-11A>G,ENST00000303586:c.-11A>G,ENST00000601957:c.-11A>G,ENST00000601142:c.-11A>G,ENST00000426813:c.-12724A>G NA NA NA NA 19q13.11 NA NA NA NA rs2546001 0.57 0.57 0.599 0.615815 0.4871 0.3919 0.4222 0.9705 0.637 0.49 0.4 0.47 0.96 0.536 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29216 NA NA 0.456285 0.879906 NA 0.601 NA 2.8539484 1367 2 29366830 29366830 A G intronic CLIP4 NA NA NA intronic ENSG00000115295 NA NA NA NA NA 2p23.2 NA NA NA NA rs3213947 0.44 0.44 0.394 0.445088 0.3708 0.6865 0.5389 0.1929 0.547 0.37 0.67 0.5 0.22 0.4246 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041577 NA NA 0.352326 0.240808 NA 0.493 NA 2.852274 1367 1 246903654 246903654 G C intronic SCCPDH NA NA NA intronic ENSG00000143653 NA NA NA NA NA 1q44 NA NA NA NA rs3007322 0.27 0.27 0.237 0.261581 0.4016 0.2312 0.3314 0.0227 0.4223 0.4 0.25 0.36 0.04 0.35 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143904 NA NA 0.397674 0.075 ID=COSN163504;OCCURENCE=1(breast) 0.391 NA 2.850726 1367 2 20939708 20939708 C T intronic C2orf43 NA NA NA intronic ENSG00000118961 NA NA NA NA NA 2p24.1 NA NA NA NA rs653347 0.42 0.42 0.272 0.4375 0.4573 0.501 0.4496 0.2254 0.6299 0.44 0.55 0.44 0.22 0.4504 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824433 NA NA 0.241628 0.236496 NA 0.109 NA 2.850672 1367 9 92003749 92003749 A G intronic SEMA4D NA NA NA intronic ENSG00000187764 NA NA NA NA NA 9q22.2 NA NA NA NA rs7465881 0.38 0.38 0.384 0.419529 0.3628 0.2004 0.4899 0.5719 0.4479 0.37 0.19 0.43 0.58 0.4026 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.913598 NA NA 0.38407 0.532456 NA 0.457 NA 2.85053 1367 11 101868415 101868415 C T UTR3 KIAA1377 NM_020802:c.*41C>T NA NA UTR3 ENSG00000110318 ENST00000263468:c.*41C>T,ENST00000532529:c.*2891C>T,ENST00000537689:c.*41C>T,ENST00000532077:c.*41C>T NA NA NA NA 11q22.1 NA NA NA NA rs1783742 0.6 0.6 0.6 0.577676 0.498 0.7639 0.4366 0.6377 0.4867 0.48 0.79 0.47 0.67 0.5031 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340302 NA NA 0.482554 0.639582 NA 0.565 NA 2.8496794 1367 5 168250350 168250350 C G intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs924875 0.49 0.49 0.529 0.515775 0.3728 0.4891 0.3775 0.8169 0.3814 0.38 0.46 0.4 0.79 0.4105 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415009 NA NA 0.367674 0.770313 ID=COSN167638;OCCURENCE=1(large_intestine) 0.536 NA 2.849026 1367 2 32481795 32481795 T A intronic NLRC4 NA NA NA intronic ENSG00000091106 NA NA NA NA NA 2p22.3 NA NA NA NA rs59966205 0.54 0.54 NA 0.511981 0.6044 0.3552 0.5879 0.6021 0.4029 0.6 0.38 0.59 0.6 0.5466 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401772 NA NA NA NA NA NA NA 2.849 1367 3 196443826 196443826 A G intronic PIGX NA NA NA intronic ENSG00000163964 NA NA NA NA NA 3q29 NA NA NA NA rs1906045 0.46 0.46 0.424 0.45647 0.3549 0.5317 0.4236 0.4887 0.4632 0.37 0.58 0.41 0.49 0.4286 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043163 NA NA 0.367527 0.44119 NA 0.522 NA 2.848973 1367 12 2851603 2851603 G A intergenic CACNA1C,LOC283440 dist=44488;dist=18763 NA NA downstream ENSG00000256150 NA NA NA NA NA 12p13.33 NA NA NA NA rs4635140 0.61 0.61 0.558 0.612021 0.6511 0.755 0.7118 0.2322 0.8671 0.65 0.81 0.71 0.25 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15765 NA NA NA NA NA 0.384 NA 2.8489 1367 19 6731304 6731304 G A intronic GPR108 NA NA NA intronic ENSG00000125734 NA NA NA NA NA 19p13.3 NA NA NA NA rs2279626 0.37 0.37 0.345 0.35004 0.3728 0.4534 0.3905 0.2746 0.2935 0.35 0.44 0.39 0.31 0.386 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048969 NA NA 0.392454 0.280584 NA 0.014 NA 2.848746 1367 19 17308734 17308734 T G intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA NA NA NA rs3745160 0.75 0.75 0.721 0.759585 0.5666 0.749 0.804 0.969 0.6544 0.57 0.78 0.78 0.96 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748388 NA NA 0.584852 0.91474 NA 0.761 NA 2.848548 1367 12 112610714 112610714 G A intronic HECTD4 NA NA NA intronic ENSG00000173064 NA NA NA NA NA 12q24.13 NA NA NA NA rs11066188 0.19 0.19 0.19 0.129593 0.4135 0.003 0.2147 0.0174 0.0593 0.42 0.01 0.25 0.02 0.2985 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76921 NA NA 0.440245 0.076505 NA 0.123 NA 2.847755 1367 21 43732425 43732425 C T intronic TFF3 NA NA NA intronic ENSG00000160180 NA NA NA NA NA 21q22.3 NA NA NA NA rs533093 0.23 0.23 0.2 0.220248 0.4215 0.0377 0.3559 0.0552 0.3282 0.39 0.05 0.36 0.08 0.3278 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614465 NA NA 0.403023 0.108488 NA 0.261 NA 2.847677 1367 1 182571277 182571277 C T intronic RGS16 NA NA NA intronic ENSG00000143333 NA NA NA NA NA 1q25.3 NA NA NA NA rs569790 0.3 0.3 0.276 0.3127 0.3817 0.2381 0.4683 0.1278 0.4581 0.37 0.23 0.43 0.17 0.3728 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.698779 NA NA 0.398256 0.172492 NA 0.268 NA 2.847244 1367 6 160575985 160575985 C T intronic SLC22A1 NA NA NA intronic ENSG00000175003 NA NA NA NA NA 6q25.3 NA NA NA NA rs2297374 0.39 0.39 0.401 0.391174 0.3767 0.3363 0.2723 0.5325 0.3558 0.39 0.31 0.3 0.53 0.3862 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947313 NA NA 0.389884 0.517476 ID=COSN167926;OCCURENCE=1(large_intestine) 0.326 NA 2.847216 1367 18 6950999 6950999 A G intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs62081480 0.26 0.26 0.219 0.225839 0.3897 0.2143 0.2248 0.0915 0.2515 0.4 0.23 0.27 0.09 0.3711 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09456 NA NA 0.393023 0.152973 NA 0.232 NA 2.846177 1367 12 31297871 31297871 G C intergenic DDX11,FAM60A dist=40146;dist=135649 NA NA ncRNA_exonic ENSG00000177359 NA NA NA Score=336;Name=lod=31 NA 12p11.21 NA NA NA NA rs12309295 0.65 0.65 0.61 0.625399 0.7266 0.6647 0.6614 0.5083 0.6135 0.74 0.66 0.67 0.48 0.6931 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607354 NA 0.01 0.734451 0.513456 NA 0.442 NA 2.845849 1367 20 30914706 30914706 C T intronic KIF3B NA NA NA intronic ENSG00000101350 NA NA NA NA NA 20q11.21 NA NA NA NA rs3746606 0.41 0.41 0.375 0.396765 0.3499 0.7431 0.4308 0.1241 0.4325 0.36 0.74 0.37 0.12 0.4208 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.464226 1.464226 NA 0.383605 0.164321 NA 0.196 NA 2.845695 1367 16 84494450 84494450 G A intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs381467 0.4 0.4 0.378 0.390176 0.5308 0.2986 0.428 0.3722 0.3374 0.53 0.27 0.46 0.33 0.4658 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.366663 NA NA 0.491105 0.373511 NA 0.457 NA 2.8456283 1367 11 92570813 92570813 C A intronic FAT3 NA NA NA intronic ENSG00000165323 NA NA NA NA NA 11q14.3 NA NA NA NA rs11020076 0.34 0.34 0.353 0.385383 0.4085 0.4435 0.4179 0.298 0.3967 0.33 0.41 0.36 0.24 0.4041 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86082 NA NA 0.341883 0.257637 NA NA NA 2.845517 1367 22 47064665 47064665 C T intronic GRAMD4 NA NA NA intronic ENSG00000075240 NA NA NA NA NA 22q13.31 NA NA NA NA rs9616088 0.31 0.31 0.278 0.285743 0.3956 0.3869 0.3818 0.0393 0.3333 0.38 0.38 0.42 0.04 0.3618 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82937 NA NA 0.397209 0.095098 NA 0.283 NA 2.845391 1367 20 13074243 13074243 T A intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA NA NA NA rs1011290 0.35 0.35 0.339 0.333466 0.3956 0.2966 0.3919 0.3676 0.2198 0.39 0.31 0.34 0.36 0.3576 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929264 NA NA 0.401483 0.37074 NA 0.275 NA 2.845317 1368 12 126003934 126003934 T C intronic TMEM132B NA NA NA intronic ENSG00000139364 NA NA NA NA NA 12q24.32 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs964998 0.81 0.81 0.811 0.83107 0.6789 0.9444 0.7925 0.8759 0.8374 0.69 0.93 0.76 0.88 0.7681 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168944 NA NA 0.708091 0.866632 NA 0.754 NA 2.844909 1368 12 48375975 48375975 A G intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs2276456 0.45 0.45 0.434 0.473243 0.3807 0.5575 0.3573 0.531 0.4857 0.38 0.58 0.36 0.47 0.39 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014869 NA NA 0.384884 0.492737 NA 0.457 NA 2.844416 1368 1 149029121 149029121 T C intergenic LOC645166,LOC388692 dist=76067;dist=250355 NA NA intergenic ENSG00000232527,ENSG00000264022 dist=77526;dist=7191 NA NA NA NA 1q21.2 NA NA NA NA rs12082723 NA NA 0.596 0.48103 0.4891 0.494 0.4726 0.4576 0.4969 NA NA NA NA NA 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687128 NA NA NA NA NA 0.232 NA 2.8442334 1368 11 18054777 18054777 A G intronic TPH1 NA NA NA intronic ENSG00000129167 NA NA NA NA NA 11p15.1 NA NA NA NA rs10832874 0.33 0.33 0.283 0.290735 0.3926 0.4802 0.3689 0.0416 0.272 0.39 0.45 0.37 0.06 0.3785 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675446 NA NA 0.384696 0.100682 NA 0.203 NA 2.844204 1368 7 23293098 23293098 C A intronic GPNMB NA NA NA intronic ENSG00000136235 NA NA NA NA NA 7p15.3 NA NA NA NA rs199348 0.35 0.35 0.341 0.365016 0.3757 0.13 0.3602 0.5333 0.3722 0.36 0.14 0.38 0.58 0.3726 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607342 NA NA 0.407558 0.480254 NA 0.319 NA 2.844142 1368 7 129736880 129736880 G A intronic KLHDC10 NA NA NA intronic ENSG00000128607 NA NA NA NA NA 7q32.2 NA NA NA NA rs12531444 0.35 0.35 0.334 0.299121 0.4036 0.4276 0.3343 0.1377 0.2526 0.41 0.45 0.32 0.15 0.3519 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.962712 NA NA 0.400465 0.171584 NA 0.181 NA 2.844035 1368 3 157004323 157004323 A C intronic VEPH1 NA NA NA ncRNA_intronic ENSG00000243176 NA NA NA NA NA 3q25.32 NA NA NA NA rs4680353 0.44 0.44 0.395 0.39377 0.505 0.4097 0.6225 0.2262 0.3272 0.5 0.43 0.59 0.23 0.4701 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136834 NA NA 0.514651 0.288243 ID=COSN167057;OCCURENCE=1(large_intestine) 0.522 NA 2.8435823 1368 11 92570812 92570812 T A intronic FAT3 NA NA NA intronic ENSG00000165323 NA NA NA NA NA 11q14.3 NA NA NA NA rs11020075 0.34 0.34 0.356 0.385383 0.4085 0.4435 0.4179 0.298 0.3967 0.33 0.41 0.36 0.25 0.4042 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22149 NA NA 0.34381 0.259165 NA NA NA 2.84349 1368 8 91064036 91064036 G C intronic DECR1 NA NA NA intronic ENSG00000104325 NA NA NA NA NA 8q21.3 NA NA NA NA rs1476590 0.58 0.58 0.565 0.613219 0.339 0.6677 0.5562 0.854 0.5542 0.35 0.68 0.54 0.84 0.4665 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275582 NA NA 0.351047 0.752837 NA 0.572 NA 2.843453 1368 7 142162001 142162001 A C intergenic LOC730441,MTRNR2L6 dist=189933;dist=212130 NA NA exonic ENSG00000211724 NA nonsynonymous SNV ENSG00000211724:ENST00000390371:exon2:c.T274G:p.Y92D NA NA 7q34 NA Name=GATA-1 NA NA rs73742263 0.99 0.99 0.988 0.98123 0.999 1 0.9942 0.9478 0.9796 1 1 0.99 0.95 0.9925 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.112476 NA 1 0.998426 0.955403 NA 0.986 NA 2.8434074 1368 4 109735146 109735146 T G intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs2305435 0.52 0.52 0.469 0.484824 0.5805 0.5258 0.5259 0.2912 0.5767 0.62 0.49 0.55 0.37 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377713 NA NA 0.576972 0.322977 NA 0.399 NA 2.842528 1368 12 108918330 108918330 G T intronic SART3 NA NA NA intronic ENSG00000075856,ENSG00000198855 NA NA NA NA NA 12q23.3 NA NA NA NA rs2303632 0.24 0.24 0.243 0.196885 0.4225 0.0883 0.2161 0.0998 0.1943 0.42 0.11 0.25 0.13 0.3228 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577461 NA NA 0.412442 0.138901 NA 0.181 NA 2.842258 1368 8 146068594 146068594 T C UTR3 ZNF7 NM_003416:c.*41T>C NA NA UTR3 ENSG00000147789 ENST00000325241:c.*41T>C,ENST00000544249:c.*41T>C,ENST00000446747:c.*41T>C,ENST00000528372:c.*41T>C NA NA NA NA 8q24.3 NA Name=SETDB1 NA NA rs1735408 0.91 0.91 0.915 0.928315 0.8181 1 0.8934 0.9554 0.956 0.82 1 0.87 0.96 0.8626 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.133962 NA NA 0.810842 0.929968 NA 0.819 NA 2.8417914 1368 1 43903589 43903589 G T intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA NA NA rs2782648 0.28 0.28 0.242 0.211861 0.4215 0.0823 0.3862 0.146 0.0951 0.42 0.08 0.42 0.17 0.3228 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460183 NA NA 0.413953 0.183159 NA 0.362 NA 2.841747 1368 1 21887290 21887290 C A intronic ALPL NA NA NA intronic ENSG00000162551 NA NA NA NA NA 1p36.12 NA NA NA NA rs1767430 0.29 0.29 0.306 0.261981 0.4235 0.1359 0.2666 0.2428 0.2485 0.41 0.13 0.3 0.27 0.34 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017903 NA NA 0.39476 0.264506 NA 0.312 NA 2.84174 1368 1 202197161 202197161 C T intronic LGR6 NA NA NA intronic ENSG00000133067 NA NA NA NA NA 1q32.1 NA NA NA NA rs3795598 0.27 0.27 0.235 0.249002 0.4235 0.251 0.2666 0.1006 0.2556 0.41 0.2 0.32 0.11 0.3294 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754673 NA NA 0.405581 0.141171 NA 0.268 NA 2.841519 1368 11 18047255 18047255 G T intronic TPH1 NA NA NA intronic ENSG00000129167 NA NA NA NA NA 11p15.1 NA NA NA NA rs1799913 0.36 0.36 0.331 0.321086 0.3907 0.4752 0.3718 0.1626 0.2689 0.4 0.47 0.39 0.15 0.3836 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223999 NA NA 0.38423 0.182273 ID=COSM147151;OCCURENCE=1(stomach) 0.246 NA 2.84147 1368 8 66517486 66517486 C T intronic ARMC1 NA NA NA intronic ENSG00000104442 NA NA NA NA NA 8q13.1 NA NA NA NA rs3765205 0.4 0.4 0.388 0.363419 0.3867 0.4355 0.4236 0.289 0.3231 0.37 0.51 0.43 0.3 0.3768 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952469 NA NA 0.395349 0.303361 NA 0.464 NA 2.841151 1368 9 131761437 131761437 A G intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA NA NA NA rs2004632 0.28 0.28 0.225 0.261781 0.4274 0.1776 0.4035 0.0877 0.3129 0.43 0.16 0.39 0.11 0.3494 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34274 NA NA 0.382326 0.124603 NA 0.341 NA 2.840874 1368 14 35468893 35468893 T A intronic SRP54 NA NA NA intronic ENSG00000100883 NA NA NA NA NA 14q13.2 NA NA NA NA rs12433712 0.45 0.45 0.436 0.422724 0.3857 0.6786 0.3458 0.2761 0.4499 0.4 0.71 0.35 0.32 0.4002 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714507 NA NA 0.373256 0.269755 NA 0.355 NA 2.840844 1368 12 8808006 8808006 T C intronic MFAP5 NA NA NA intronic ENSG00000197614 NA NA NA NA NA 12p13.31 NA NA NA NA rs11046589 0.42 0.42 0.399 0.429313 0.3807 0.4554 0.3285 0.4773 0.4591 0.37 0.46 0.34 0.5 0.4165 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903284 NA NA 0.362442 0.48729 NA 0.297 NA 2.840358 1368 10 6498799 6498799 C G intronic PRKCQ NA NA NA intronic ENSG00000065675 NA NA NA NA NA 10p15.1 NA NA NA NA rs2296123 0.43 0.43 0.397 0.463458 0.3608 0.4643 0.5072 0.475 0.5215 0.36 0.47 0.53 0.43 0.4227 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882428 NA NA 0.376512 0.475034 NA 0.384 NA 2.839988 1368 1 43912590 43912590 A G intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA NA NA rs2782650 0.28 0.28 0.244 0.211861 0.4215 0.0813 0.3847 0.146 0.0971 0.42 0.08 0.42 0.17 0.3248 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686898 NA NA 0.413721 0.183159 NA 0.355 NA 2.839979 1368 12 123983941 123983941 G A intronic RILPL1 NA NA NA intronic ENSG00000188026 NA NA NA NA NA 12q24.31 NA NA NA NA rs9697264 0.36 0.36 0.369 0.376398 0.3777 0.0139 0.4323 0.6959 0.2771 0.39 0.01 0.41 0.68 0.3864 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779594 NA NA 0.396724 0.634094 NA 0.326 NA 2.839176 1368 12 31300891 31300891 C A intergenic DDX11,FAM60A dist=43166;dist=132629 NA NA ncRNA_exonic ENSG00000177359 NA NA NA Score=289;Name=lod=20 NA 12p11.21 NA NA NA NA rs4082530 0.64 0.64 0.609 0.629792 0.7266 0.6647 0.6614 0.5151 0.6268 0.73 0.65 0.67 0.49 0.6997 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133615 NA 0.02 0.734625 0.523545 NA 0.493 NA 2.839075 1368 11 96106661 96106661 C G intronic CCDC82 NA NA NA intronic ENSG00000149231 NA NA NA NA NA 11q21 NA NA NA NA rs11021560 0.33 0.33 0.302 0.308906 0.4016 0.254 0.3012 0.2746 0.3221 0.41 0.24 0.32 0.31 0.3661 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088135 NA NA 0.393268 0.282429 NA 0.391 NA 2.839032 1368 1 145558824 145558824 A C intronic ANKRD35,NBPF10 NA NA NA intronic ENSG00000198483 NA NA NA NA NA 1q21.1 NA NA NA NA rs17352281 0.3 0.3 0.265 0.277356 0.4056 0.1587 0.3732 0.289 0.184 0.39 0.13 0.39 0.29 0.3529 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.729403 2.729403 NA 0.402674 0.328643 NA 0.246 NA 2.838826 1368 8 145624640 145624640 C T intronic CPSF1 NA NA NA intronic ENSG00000071894 NA NA NA NA NA 8q24.3 NA NA NA NA rs2293963 0.43 0.43 0.397 0.459065 0.3668 0.6597 0.4986 0.2398 0.6155 0.35 0.65 0.49 0.24 0.4393 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.003136 NA NA 0.355263 0.274443 NA 0.116 NA 2.838637 1368 11 129752991 129752991 G C intronic NFRKB NA NA NA intronic ENSG00000170322 NA NA NA NA NA 11q24.3 NA NA NA NA rs2293664 0.36 0.36 0.355 0.311102 0.3926 0.4921 0.3746 0.1195 0.2546 0.4 0.48 0.37 0.14 0.3704 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285496 NA NA 0.39865 0.151522 NA 0.319 NA 2.83835 1368 11 60666116 60666116 G T intronic PRPF19 NA NA NA intronic ENSG00000110107 NA NA NA NA NA 11q12.2 NA NA NA NA rs3763841 0.32 0.32 0.307 0.309904 0.3887 0.3194 0.3905 0.1475 0.3814 0.39 0.33 0.4 0.16 0.3711 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072285 NA NA 0.402303 0.188379 NA 0.355 NA 2.837897 1368 19 39963828 39963828 T A intronic SUPT5H NA NA NA intronic ENSG00000196235 NA NA NA NA NA 19q13.2 NA NA NA NA rs45568533 0.46 0.46 0.456 0.493011 0.3887 0.4613 0.4006 0.621 0.5256 0.39 0.42 0.43 0.63 0.4245 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924379 NA NA 0.349616 0.579437 NA 0.42 NA 2.837184 1368 12 2851563 2851563 T C intergenic CACNA1C,LOC283440 dist=44448;dist=18803 NA NA downstream ENSG00000256150 NA NA NA NA NA 12p13.33 NA NA NA NA rs10774060 0.69 0.69 0.591 0.722444 0.663 0.7897 0.7565 0.5794 0.8834 0.65 0.82 0.73 0.57 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821289 NA NA NA NA NA 0.507 NA 2.837 1368 12 2851583 2851583 G C intergenic CACNA1C,LOC283440 dist=44468;dist=18783 NA NA downstream ENSG00000256150 NA NA NA NA NA 12p13.33 NA NA NA NA rs10848697 0.67 0.67 0.596 0.675319 0.663 0.7887 0.7406 0.41 0.8834 0.66 0.83 0.73 0.43 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249234 NA NA NA NA NA 0.471 NA 2.837 1368 11 3026712 3026712 C T intronic CARS NA NA NA intronic ENSG00000110619 NA NA NA NA NA 11p15.4 NA NA NA NA rs7931504 0.32 0.32 0.3 0.334465 0.3926 0.1984 0.3213 0.3389 0.4182 0.4 0.2 0.31 0.34 0.3792 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578958 NA NA 0.391228 0.358311 NA 0.29 NA 2.836972 1368 10 429932 429932 C T intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs7092412 0.43 0.43 0.41 0.447085 0.3588 0.4841 0.4568 0.4448 0.4959 0.37 0.49 0.46 0.43 0.4359 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454866 NA NA 0.368341 0.440536 NA 0.457 NA 2.836959 1368 4 15568992 15568992 T C intronic CC2D2A NA NA NA intronic ENSG00000048342 NA NA NA NA NA 4p15.32 NA NA NA NA rs13121363 0.66 0.66 0.656 0.66254 0.7286 0.5288 0.7709 0.6104 0.726 0.73 0.54 0.75 0.62 0.7122 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043122 NA NA 0.722976 0.655648 NA 0.667 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114172.2;CLNDSDB=.;CLNDSDBID=. 2.836224 1368 20 29873081 29873081 T A intergenic DEFB115,DEFB116 dist=25646;dist=17934 NA NA downstream ENSG00000224628 NA NA NA NA NA 20q11.21 NA NA NA NA rs6061026 0.71 0.71 0.717 0.752995 0.664 0.7609 0.7147 0.8457 0.7382 0.65 0.72 0.7 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350988 NA NA NA NA NA 0.739 NA 2.836 1368 12 31242440 31242440 A G intronic DDX11 NA NA NA UTR3 ENSG00000013573 ENST00000542244:c.*453A>G NA NA NA NA 12p11.21 NA NA NA NA rs2075318 0.62 0.62 0.551 0.60643 0.4125 0.7629 0.585 0.6831 0.5562 0.43 0.78 0.57 0.75 0.479 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305942 NA NA 0.439288 0.66485 NA 0.152 NA 2.8358787 1368 1 241951106 241951106 A G intronic WDR64 NA NA NA intronic ENSG00000162843 NA NA NA NA NA 1q43 NA NA NA NA rs6429313 0.42 0.42 0.389 0.419329 0.4095 0.4325 0.4092 0.4599 0.3681 0.4 0.41 0.45 0.46 0.3887 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606949 NA NA 0.366047 0.459601 NA 0.493 NA 2.835753 1368 4 15569146 15569146 A C intronic CC2D2A NA NA NA intronic ENSG00000048342 NA NA NA NA NA 4p15.32 NA NA NA NA rs13116304 0.66 0.66 0.663 0.66234 0.7286 0.5278 0.7709 0.6104 0.726 0.73 0.54 0.75 0.62 0.7113 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800077 NA NA 0.724367 0.657609 NA 0.667 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114175.2;CLNDSDB=.;CLNDSDBID=. 2.835733 1368 17 78084688 78084688 C A intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 Score=831;Name=V$OLF1_01 NA NA NA rs2304843 0.61 0.61 0.605 0.599241 0.7515 0.5427 0.5432 0.5113 0.6595 0.75 0.57 0.55 0.49 0.6748 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.176912 NA NA 0.738023 0.536768 NA 0.645 NA 2.835677 1368 1 210003402 210003402 T C intronic DIEXF NA NA NA intronic ENSG00000117597 NA NA NA NA NA 1q32.2 NA NA Name=2 NA rs599649 0.6 0.6 0.61 0.590455 0.7286 0.3859 0.5403 0.6097 0.6687 0.72 0.41 0.61 0.63 0.6745 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303603 1.303603 NA 0.761628 0.599183 ID=COSN163426;OCCURENCE=1(NS) 0.71 NA 2.835272 1368 8 144996635 144996635 G A intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs11786934 0.24 0.24 0.2 0.230631 0.4274 0.1419 0.2954 0.0287 0.3466 0.42 0.16 0.3 0.03 0.3432 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598783 NA NA 0.394289 0.085656 NA 0.275 NA 2.835111 1369 17 39767836 39767836 G A intronic KRT16 NA NA NA intronic ENSG00000186832 NA NA NA NA NA 17q21.2 NA NA NA NA rs2100509 0.71 0.71 0.689 0.718051 0.6044 0.9296 0.7507 0.59 0.7669 0.6 0.94 0.72 0.59 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359761 NA NA 0.560968 0.578757 NA 0.609 NA 2.834632 1369 17 78084507 78084507 G C intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs2304844 0.61 0.61 0.637 0.603035 0.7515 0.5417 0.5432 0.5182 0.6708 0.75 0.56 0.55 0.49 0.676 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242437 NA NA 0.737907 0.538357 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078158.1;CLNDSDB=.;CLNDSDBID=. 2.834593 1369 9 131761899 131761899 A G intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA NA NA NA rs2302811 0.29 0.29 0.266 0.279153 0.4264 0.2212 0.4035 0.0885 0.3569 0.43 0.21 0.39 0.11 0.3567 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811546 NA NA 0.382442 0.126419 NA 0.348 NA 2.834458 1369 8 145622923 145622923 T C intronic CPSF1 NA NA NA intronic ENSG00000071894 NA NA NA NA NA 8q24.3 NA NA NA NA rs2977835 0.46 0.46 0.418 0.500599 0.3678 0.6597 0.5086 0.3873 0.6207 0.35 0.65 0.49 0.38 0.4454 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497963 NA NA 0.352548 0.377177 NA 0.312 NA 2.834252 1369 20 44180813 44180813 G A intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs17348421 0.29 0.29 0.276 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 0.3502 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.223517 2.223517 NA 0.414302 0.374035 NA 0.413 NA 2.833898 1369 1 161722272 161722272 C A intronic DUSP12 NA NA NA intronic ENSG00000081721 NA NA NA NA NA 1q23.3 NA NA NA NA rs10917852 0.24 0.24 0.207 0.214457 0.4553 0.0486 0.2637 0.0514 0.3231 0.46 0.06 0.3 0.05 0.3222 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721543 NA NA 0.389109 0.098956 NA 0.312 NA 2.833391 1369 14 90767759 90767759 G A intronic NRDE2 NA NA NA intronic ENSG00000119720 NA NA NA NA NA 14q32.11 NA NA NA NA rs3742668 0.37 0.37 0.353 0.345248 0.3966 0.5069 0.3084 0.1634 0.3978 0.41 0.5 0.33 0.19 0.3745 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842759 NA NA 0.395557 0.220254 NA 0.348 NA 2.833343 1369 1 23836364 23836364 A G UTR3 E2F2 NM_004091:c.*8T>C NA NA UTR3 ENSG00000007968 ENST00000361729:c.*8T>C NA NA NA NA 1p36.12 NA NA NA NA rs2075993 0.42 0.42 0.372 0.348842 0.5219 0.5605 0.4193 0.0499 0.3067 0.53 0.6 0.39 0.05 0.4727 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022203 NA NA 0.505583 0.13527 NA 0.348 NA 2.8331504 1369 17 33502937 33502937 G A intronic UNC45B NA NA NA intronic ENSG00000141161 NA NA NA NA NA 17q12 NA NA NA NA rs11657816 0.34 0.34 0.359 0.335863 0.4056 0.2629 0.2608 0.3616 0.3579 0.42 0.29 0.27 0.35 0.3568 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041114 NA NA 0.404651 0.336133 NA 0.399 NA 2.832949 1369 4 70465153 70465153 A T intronic UGT2A1,UGT2A2 NA NA NA intronic ENSG00000173610,ENSG00000270386,ENSG00000271271 NA NA NA NA NA 4q13.2 NA NA NA NA rs3775782 0.42 0.42 0.394 0.421326 0.3598 0.5694 0.4712 0.3041 0.455 0.35 0.6 0.44 0.3 0.4169 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123279 NA NA 0.39044 0.347639 NA 0.428 NA 2.83286 1369 17 78079544 78079544 C G intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs3816256 0.61 0.61 0.604 0.602835 0.7535 0.5437 0.5418 0.5212 0.6626 0.75 0.57 0.55 0.5 0.6759 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.304028 NA NA 0.738372 0.544485 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078182.2;CLNDSDB=.;CLNDSDBID=. 2.832228 1369 6 5431960 5431960 A G intronic FARS2 NA NA NA UTR3 ENSG00000145982 ENST00000445533:c.*45A>G NA NA NA NA 6p25.1 NA NA NA NA rs10900967 0.4 0.4 0.358 0.360823 0.4771 0.379 0.4424 0.2534 0.3098 0.5 0.41 0.42 0.24 0.417 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24737 NA NA 0.440984 0.283105 NA 0.312 NA 2.8315827 1369 20 31647864 31647864 C A intronic BPIFB3 NA NA NA intronic ENSG00000186190 NA NA NA NA NA 20q11.21 NA NA NA NA rs6088084 0.48 0.48 0.443 0.48123 0.3867 0.7579 0.4712 0.3177 0.5215 0.39 0.75 0.44 0.33 0.4198 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290306 NA NA 0.362209 0.308897 NA 0.442 NA 2.831291 1369 17 61996204 61996204 T C upstream GH1 NA NA NA upstream ENSG00000204414,ENSG00000259384 NA NA NA NA NA 17q23.3 NA NA NA NA rs6171 0.37 0.37 0.317 0.363419 0.4085 0.3234 0.2997 0.4569 0.2771 0.39 0.28 0.34 0.45 NA 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194378 NA NA 0.42709 0.439306 NA 0.5 NA 2.8310766 1369 19 39949764 39949764 C T intronic SUPT5H NA NA NA intronic ENSG00000196235 NA NA NA NA NA 19q13.2 NA NA NA NA rs1529733 0.46 0.46 0.456 0.495407 0.3887 0.4613 0.4006 0.6218 0.5368 0.39 0.42 0.43 0.63 0.4289 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835726 NA NA 0.351744 0.580799 NA 0.42 NA 2.830656 1369 19 54756024 54756024 A C intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs405443 0.61 0.61 0.58 0.573482 0.5885 0.7679 0.5476 0.4062 0.6022 0.59 0.83 0.55 0.44 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002222 NA NA 0.581081 0.401012 NA 0.319 NA 2.830419 1369 17 36909061 36909061 A G UTR5 PSMB3 NM_002795:c.-19A>G NA NA UTR5 ENSG00000108294 ENST00000225426:c.-19A>G,ENST00000579088:c.-348A>G,ENST00000584662:c.-19A>G,ENST00000579729:c.-19A>G NA NA NA NA 17q12 NA Name=KAP1,c-Fos,Pol2-4H8,RFX5_(N-494),STAT3,YY1,TBP,Nrf1,SIX5,IRF3,NFKB,HEY1,YY1_(C-20),Pol2,SP1,Pol2(phosphoS2),TAF1,SREBP1,NF-YA,SP2_(SC-643),GTF2F1_(RAP-74),CHD2_(N-1250),NF-YB,STAT1,ELF1_(SC-631) NA NA rs228274 0.81 0.81 0.806 0.784944 0.8459 0.9008 0.8429 0.6611 0.729 0.85 0.89 0.82 0.66 0.8172 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364663 1.364663 NA 0.840233 0.703132 NA 0.833 NA 2.8300004 1369 1 157606064 157606064 C T intergenic FCRL4,FCRL3 dist=38194;dist=41914 NA NA downstream ENSG00000233712 NA NA NA NA NA 1q23.1 NA NA NA NA rs2758695 0.76 0.76 0.767 0.774161 0.67 0.8165 0.7378 0.8767 0.7249 0.68 0.83 0.71 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748087 NA NA NA NA NA 0.703 NA 2.83 1369 16 11017058 11017058 G A intronic CIITA NA NA NA intronic ENSG00000179583 NA NA NA NA NA 16p13.13 NA NA NA NA rs4781024 0.32 0.32 0.326 0.304113 0.4076 0.3304 0.2839 0.1649 0.3732 0.4 0.33 0.33 0.18 0.3672 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7357 NA NA 0.395233 0.212335 NA 0.348 NA 2.829967 1369 1 214571251 214571251 A C intronic PTPN14 NA NA NA intronic ENSG00000152104 NA NA NA NA NA 1q41 NA NA NA NA rs11580603 0.41 0.41 0.385 0.350439 0.4046 0.4365 0.3977 0.3389 0.1881 0.42 0.42 0.42 0.37 0.3734 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805401 NA NA 0.392093 0.330005 NA 0.239 NA 2.829907 1369 20 18142924 18142924 G A intronic CSRP2BP NA NA NA intronic ENSG00000149474 NA NA NA NA NA 20p11.23 NA NA NA NA rs3748511 0.26 0.26 0.243 0.233626 0.4205 0.0575 0.268 0.1838 0.2658 0.42 0.05 0.3 0.23 0.3329 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607632 NA NA 0.417442 0.189968 NA 0.246 NA 2.829158 1369 8 144996598 144996598 G A intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs11786903 0.25 0.25 0.184 0.230631 0.4274 0.1419 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 0.3448 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727159 NA NA 0.398871 0.090573 NA 0.275 NA 2.828929 1369 6 161139502 161139502 G A intronic PLG NA NA NA intronic ENSG00000122194 NA NA NA NA NA 6q26 NA NA NA NA rs2295368 0.37 0.37 0.361 0.34984 0.3897 0.4554 0.2824 0.2368 0.4008 0.4 0.49 0.3 0.24 0.3784 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.698349 1.698349 NA 0.40314 0.266682 NA 0.254 NA 2.82876 1369 11 102668702 102668702 T C ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA NA NA rs470358 0.65 0.65 0.674 0.672324 0.6213 0.5764 0.572 0.8601 0.6411 0.61 0.58 0.57 0.85 0.6153 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93637 NA NA 0.601535 0.80118 NA 0.652 NA 2.8285316 1369 1 11594400 11594400 T C intronic PTCHD2 NA NA NA intronic ENSG00000204624 NA NA NA NA NA 1p36.22 NA NA NA NA rs2235663 0.58 0.58 0.622 0.638179 0.3469 0.749 0.3127 0.944 0.6411 0.35 0.74 0.32 0.95 0.4529 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278704 NA NA 0.372725 0.84832 NA 0.522 NA 2.827475 1369 16 19663269 19663269 T C intronic C16orf62 NA NA NA intronic ENSG00000103544 NA NA NA NA NA 16p12.3 NA NA NA NA rs875648 0.48 0.48 0.519 0.501797 0.3648 0.3502 0.3516 0.8828 0.3906 0.34 0.4 0.37 0.87 0.4505 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484608 NA NA 0.357326 0.771507 NA 0.601 NA 2.827374 1369 11 94225920 94225920 C T intronic MRE11A NA NA NA UTR5 ENSG00000020922 ENST00000407439:c.-84G>A NA NA NA NA 11q21 NA NA NA NA rs497763 0.46 0.46 0.427 0.457268 0.4483 0.5 0.4798 0.3396 0.5654 0.43 0.55 0.48 0.38 0.4621 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.700423 NA NA 0.429037 0.373239 NA 0.37 NA 2.8272297 1369 2 119732042 119732042 T C intronic MARCO NA NA NA intronic ENSG00000019169 NA NA NA NA NA 2q14.2 NA NA NA NA rs11693199 0.24 0.24 0.219 0.168331 0.4433 0.0665 0.2752 0.0446 0.0818 0.44 0.07 0.32 0.06 0.3176 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027956 NA NA 0.412791 0.097367 NA 0.246 NA 2.826309 1369 3 145788803 145788803 T C intronic PLOD2 NA NA NA ncRNA_intronic ENSG00000243415 NA NA NA NA NA 3q24 NA NA NA NA rs2305274 0.51 0.51 0.519 0.5 0.503 0.5744 0.4755 0.4955 0.4438 0.5 0.56 0.48 0.5 0.5065 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.266567 NA NA 0.497556 0.522707 NA 0.449 NA 2.8262773 1369 16 71406024 71406024 C T intronic CALB2 NA NA NA intronic ENSG00000172137 NA NA NA NA NA 16q22.2 NA NA NA NA rs7203012 0.4 0.4 0.348 0.362819 0.4016 0.2907 0.5562 0.388 0.226 0.42 0.29 0.53 0.39 0.3902 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18606 NA NA 0.381949 0.37796 NA 0.486 NA 2.826251 1369 16 56686471 56686471 G T intronic MT1B NA NA NA ncRNA_intronic ENSG00000259923 NA NA NA NA NA 16q12.2 NA NA NA NA rs964374 0.39 0.39 0.387 0.395168 0.503 0.3185 0.402 0.2859 0.5061 0.51 0.3 0.44 0.27 0.4814 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337805 NA NA 0.522907 0.356005 NA 0.413 NA 2.8260263 1369 8 48114035 48114035 G C intergenic LOC100287846,KIAA0146 dist=9596;dist=59454 NA NA downstream ENSG00000215177 NA NA NA NA NA 8q11.21 NA NA NA NA rs4379458 0.15 0.15 0.135 0.17472 0.2366 0.122 0.1182 0.0189 0.4162 0.24 0.14 0.13 0.03 0.2141 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371344 NA NA 0.223872 0.053245 NA 0.094 NA 2.825428 1370 9 33290532 33290532 A G UTR5 NFX1 NM_002504:c.-39A>G,NM_147133:c.-39A>G,NM_147134:c.-39A>G NA NA UTR5 ENSG00000086102 ENST00000379540:c.-39A>G,ENST00000379521:c.-39A>G NA NA NA NA 9p13.3 NA Name=Oct-2,ELF1_(SC-631),Max,CHD2_(N-1250),CEBPB,BHLHE40,p300,USF2,GABP,POU2F2,E2F4,E2F6_(H-50),ETS1,SREBP1,TAF1,GATA-1,USF1_(SC-8983),E2F6,YY1_(C-20),TCF4,Pol2(phosphoS2),SP1,NRSF,ATF3,Mxi1_(bHLH),Pol2,SIX5,GRp20,PAX5-N19,PAX5-C20,NFKB,HEY1,c-Myc,CCNT2,IRF1,TBP,USF-1,TCF12,Nrf1,ELK4,FOSL2,E2F1,GATA-2,Pol2-4H8,ZNF263,KAP1,Sin3Ak-20,HA-E2F1,YY1,Ini1,RFX5_(N-494) NA NA rs830576 0.82 0.82 0.828 0.820088 0.827 0.8383 0.8314 0.8147 0.7935 0.84 0.83 0.8 0.79 0.8376 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34538 NA NA 0.843837 0.814344 NA 0.841 NA 2.8248964 1370 7 91711791 91711791 A G intronic AKAP9 NA NA NA intronic ENSG00000127914 NA NA NA NA NA 7q21.2 NA NA NA NA rs2079082 0.35 0.35 0.369 0.360623 0.3877 0.1617 0.3559 0.4561 0.4121 0.39 0.17 0.38 0.49 0.3834 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164477 NA NA 0.40424 0.481793 NA 0.384 NA 2.82466 1370 1 183084607 183084607 A G intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs3736888 0.45 0.45 0.024 0.530351 0.5636 0.628 0.6254 0.3268 0.6033 0.48 0.52 0.52 0.27 0.5695 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.016372 NA NA 0.042326 0.021108 NA NA NA 2.824574 1370 3 121448675 121448675 T A intronic GOLGB1 NA NA NA intronic ENSG00000173230 NA NA NA NA NA 3q13.33 NA NA NA NA rs28497949 0.32 0.32 0.318 0.278554 0.4095 0.3016 0.2579 0.2035 0.2362 0.4 0.34 0.25 0.2 0.3519 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049965 NA NA 0.414186 0.239101 NA 0.406 NA 2.824414 1370 1 201353827 201353827 G C intronic LAD1 NA NA NA intronic ENSG00000159166 NA NA NA NA NA 1q32.1 NA NA NA NA rs10920189 0.51 0.51 0.479 0.502796 0.6034 0.4802 0.6599 0.2526 0.6493 0.61 0.51 0.62 0.3 0.5724 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.079351 NA NA NA NA NA 0.478 NA 2.8242 1370 8 27294606 27294606 G C intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs7005954 0.34 0.34 0.342 0.378794 0.3926 0.1954 0.3934 0.4629 0.4294 0.41 0.15 0.36 0.42 0.3837 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.60679 NA NA 0.399535 0.447118 NA 0.471 NA 2.824165 1370 22 23247028 23247028 A G intergenic IGLL5,RTDR1 dist=9015;dist=154565 NA NA upstream ENSG00000211678 NA NA NA NA NA 22q11.22 NA NA NA NA rs464478 NA NA 0.632 NA NA NA NA NA NA NA NA NA NA 0.676 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124921 NA NA NA NA NA 0.565 NA 2.824 1370 5 167891668 167891668 G A intronic WWC1 NA NA NA intronic ENSG00000113645 NA NA NA NA NA 5q34 NA NA NA NA rs62384143 0.25 0.25 0.255 0.259385 0.4334 0.0407 0.304 0.1362 0.4407 0.45 0.03 0.33 0.14 0.3432 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.417662 NA NA 0.399874 0.134253 NA 0.283 NA 2.823526 1370 10 129209084 129209084 A G intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs2296628 0.42 0.42 0.385 0.401957 0.3748 0.5665 0.5648 0.1611 0.4703 0.38 0.6 0.52 0.19 0.437 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116476 NA NA 0.365286 0.184673 NA 0.312 NA 2.822914 1370 8 27308538 27308538 G A intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs751018 0.34 0.34 0.34 0.384784 0.3926 0.1964 0.3934 0.4841 0.4305 0.41 0.16 0.36 0.45 0.3847 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045383 NA NA 0.399884 0.458693 NA 0.493 NA 2.822816 1370 5 158697481 158697481 C G intronic UBLCP1 NA NA NA intronic ENSG00000164332 NA NA NA NA NA 5q33.3 NA NA NA NA rs3734104 0.51 0.51 0.486 NA NA NA NA NA NA 0.61 0.51 0.55 0.32 0.5642 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.088233 NA NA 0.61314 0.365184 NA 0.638 NA 2.82266 1370 8 144801681 144801681 G A intronic MAPK15 NA NA NA intronic ENSG00000181085 NA NA NA NA NA 8q24.3 NA NA Name=2 NA rs11778657 0.52 0.52 0.49 0.481829 0.7763 0.4435 0.6167 0.0908 0.6513 0.78 0.45 0.65 0.11 0.6483 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097744 NA NA 0.753259 0.212403 NA 0.362 NA 2.822141 1370 8 129021179 129021179 G A ncRNA_exonic MIR1206 NA NA NA ncRNA_intronic ENSG00000249859 NA NA NA NA NA 8q24.21 NA NA NA NA rs2114358 0.7 0.7 0.692 0.671526 0.6233 0.6944 0.7147 0.7655 0.5399 0.63 0.73 0.7 0.77 0.6254 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022231 NA NA 0.596315 0.723852 NA 0.616 NA 2.8216516 1370 14 50671133 50671133 A G intronic SOS2 NA NA NA intronic ENSG00000100485 NA NA NA NA NA 14q21.3 NA NA NA NA rs12888783 0.28 0.28 0.254 0.242013 0.4235 0.2232 0.2464 0.0908 0.2761 0.42 0.21 0.28 0.12 0.3437 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486259 1.486259 NA 0.411367 0.138119 NA 0.217 NA 2.821433 1370 11 94354019 94354019 T C intronic PIWIL4 NA NA NA ncRNA_intronic ENSG00000255929 NA NA NA NA NA 11q21 NA NA NA NA rs504010 0.5 0.5 0.52 0.501198 0.503 0.4901 0.5058 0.5454 0.4479 0.5 0.47 0.46 0.56 0.5014 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109369 NA NA 0.508027 0.542935 NA 0.543 NA 2.8209063 1370 2 27663416 27663416 G T intronic NRBP1 NA NA NA intronic ENSG00000115216 NA NA NA NA NA 2p23.3 NA NA NA NA rs1260342 0.4 0.4 0.42 0.453874 0.3757 0.1667 0.4827 0.7315 0.4346 0.39 0.14 0.42 0.71 0.4194 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.789423 NA NA 0.384302 0.664094 NA 0.609 NA 2.820598 1370 13 96505952 96505952 T C intronic UGGT2 NA NA NA intronic ENSG00000102595 NA NA NA NA NA 13q32.1 NA NA NA NA rs3099360 0.36 0.36 0.324 0.351238 0.3738 0.4643 0.4496 0.171 0.3855 0.38 0.47 0.41 0.16 0.3998 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457702 NA NA 0.405908 0.210849 NA 0.362 NA 2.820492 1370 11 50129261 50129261 T G intergenic OR4C12,LOC441601 dist=125190;dist=109738 NA NA upstream ENSG00000255442 NA NA NA NA NA 11p11.12 NA NA NA NA rs1995041 0.68 0.68 0.653 0.698482 0.6799 0.7837 0.7824 0.5439 0.7791 0.67 0.8 0.77 0.5 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.567647 NA NA NA NA NA 0.623 NA 2.8201 1370 10 135105991 135105991 G A intronic TUBGCP2 NA NA NA intronic ENSG00000130640 NA NA NA NA NA 10q26.3 NA NA NA NA rs72864793 0.44 0.44 0.414 0.446685 0.4384 0.4524 0.4597 0.4062 0.4949 0.45 0.42 0.49 0.4 0.3143 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749135 NA NA 0.427209 0.39537 NA 0.101 NA 2.820091 1370 7 134877935 134877935 A G intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA NA Name=8 NA rs292573 0.72 0.72 0.711 0.712859 0.7097 0.8224 0.8372 0.497 0.8067 0.72 0.83 0.82 0.53 0.7437 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196382 NA NA 0.726977 0.554471 NA 0.725 NA 2.819623 1370 12 56493822 56493822 A C intronic ERBB3 NA NA NA intronic ENSG00000065361 NA NA NA NA NA 12q13.2 NA NA NA NA rs2292238 0.35 0.35 0.327 0.295128 0.4135 0.3214 0.4207 0.1536 0.2485 0.42 0.37 0.4 0.2 0.3612 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.855877 1.855877 NA 0.406279 0.197912 NA 0.341 NA 2.819021 1370 7 138429823 138429823 C T intronic ATP6V0A4 NA NA NA intronic ENSG00000105929 NA NA NA NA NA 7q34 NA NA NA NA rs55843107 0.41 0.41 0.373 0.387181 0.3767 0.5942 0.5735 0.1006 0.4397 0.38 0.64 0.5 0.1 0.4219 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4968 NA NA 0.382558 0.168861 NA 0.297 NA 2.818842 1370 8 145001300 145001300 T A intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs55984967 0.25 0.25 0.208 0.230831 0.4274 0.1429 0.2954 0.028 0.3476 0.42 0.16 0.3 0.03 0.3437 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391417 NA NA 0.410106 0.089763 NA 0.283 NA 2.818794 1370 8 145001372 145001372 T C intronic PLEC NA NA NA intronic ENSG00000178209 NA NA NA NA NA 8q24.3 NA NA NA NA rs11782890 0.24 0.24 0.195 0.23103 0.4274 0.1429 0.2968 0.028 0.3476 0.42 0.16 0.3 0.03 0.3438 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650684 NA NA 0.410697 0.092518 NA 0.283 NA 2.818103 1370 18 51933199 51933199 G T intergenic C18orf54,DYNAP dist=24795;dist=325191 NA NA downstream ENSG00000264350 NA NA NA NA NA 18q21.2 NA NA NA NA rs3826581 0.74 0.74 0.739 0.750599 0.6819 0.7004 0.7363 0.8623 0.7321 0.7 0.72 0.71 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.393868 3.393868 NA NA NA NA 0.746 NA 2.8181 1370 18 51933507 51933507 G A intergenic C18orf54,DYNAP dist=25103;dist=324883 NA NA upstream ENSG00000264350 NA NA NA NA NA 18q21.2 NA NA NA NA rs3744854 0.75 0.75 0.746 0.761382 0.6819 0.7024 0.7406 0.8994 0.7321 0.7 0.72 0.72 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816726 NA NA NA NA NA 0.768 NA 2.8181 1370 18 51933540 51933540 A C intergenic C18orf54,DYNAP dist=25136;dist=324850 NA NA upstream ENSG00000264350 NA NA NA NA NA 18q21.2 NA NA NA NA rs3744853 0.75 0.75 0.739 0.755192 0.6819 0.7024 0.7363 0.8782 0.7321 0.7 0.72 0.71 0.88 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075366 NA NA NA NA NA 0.761 NA 2.8181 1370 4 871624 871624 C T intronic GAK NA NA NA intronic ENSG00000178950 NA NA NA NA NA 4p16.3 NA NA NA NA rs1564281 0.34 0.34 0.361 0.352236 0.3887 0.2817 0.3084 0.3434 0.4305 0.4 0.29 0.32 0.32 0.3843 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570788 NA NA 0.409186 0.359964 NA 0.326 NA 2.817814 1370 20 44190705 44190705 T G intronic WFDC8 NA NA NA intronic ENSG00000158901 NA NA NA NA NA 20q13.12 NA NA NA NA rs3817887 0.29 0.29 0.284 0.283347 0.4016 0.0585 0.3444 0.3707 0.2321 0.4 0.05 0.36 0.35 0.3661 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382419 NA NA 0.414535 0.374262 NA 0.413 NA 2.817765 1370 20 44333052 44333052 A G intronic WFDC10B,WFDC13 NA NA NA intronic ENSG00000168634,ENSG00000182931 NA NA NA NA NA 20q13.12 NA NA NA NA rs980984 0.49 0.49 0.459 0.524361 0.3837 0.7798 0.3127 0.4523 0.6534 0.36 0.76 0.34 0.48 0.4325 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.144863 3.144863 NA 0.366512 0.400363 NA 0.326 NA 2.817288 1370 7 91727385 91727385 G A intronic AKAP9 NA NA NA intronic ENSG00000127914 NA NA NA NA NA 7q21.2 NA NA NA NA rs6946356 0.36 0.36 0.338 0.362021 0.3857 0.1607 0.3559 0.4652 0.41 0.39 0.17 0.38 0.5 0.3947 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.311926 1.311926 NA 0.402652 0.481835 NA 0.391 NA 2.816948 1370 20 4705756 4705756 T C UTR3 PRND NM_012409:c.*28T>C NA NA UTR3 ENSG00000171864 ENST00000305817:c.*28T>C NA NA NA NA 20p13 NA NA NA NA rs2756263 0.51 0.51 0.551 0.552716 0.4891 0.3998 0.3862 0.7103 0.681 0.5 0.4 0.39 0.73 0.5194 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652414 NA NA 0.508145 0.673479 NA 0.514 NA 2.8166884 1370 2 44071625 44071625 C A intronic ABCG8 NA NA NA intronic ENSG00000143921 NA NA NA NA NA 2p21 NA NA NA NA rs4148209 0.44 0.44 0.397 0.434505 0.3708 0.8512 0.3501 0.1293 0.5429 0.39 0.86 0.32 0.12 0.4295 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.970874 NA NA 0.383721 0.194961 NA 0.304 NA 2.815979 1370 19 3823237 3823237 G A intronic ZFR2 NA NA NA intronic ENSG00000105278 NA NA NA NA NA 19p13.3 NA NA NA NA rs2240231 0.41 0.41 0.406 0.370407 0.4175 0.4117 0.415 0.4032 0.2035 0.41 0.41 0.43 0.41 0.3751 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947776 NA NA 0.391478 0.404532 NA 0.384 NA 2.815922 1370 8 16942849 16942849 C T intronic MICU3 NA NA NA intronic ENSG00000155970 NA NA NA NA NA 8p22 NA NA NA NA rs2285265 0.47 0.47 0.468 0.485423 0.3917 0.4355 0.4352 0.5953 0.5204 0.39 0.45 0.45 0.63 0.4229 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467056 NA NA 0.369884 0.536768 NA 0.428 NA 2.815516 1370 15 27890589 27890589 A G intergenic GABRG3,OCA2 dist=112216;dist=109434 NA NA intergenic ENSG00000258594,ENSG00000258853 dist=16154;dist=39055 NA NA NA NA 15q12 NA NA NA NA rs1871018 0.56 0.56 0.554 0.58726 0.5179 0.7768 0.5259 0.4811 0.6503 0.52 0.76 0.46 0.47 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561366 NA NA NA NA NA 0.565 NA 2.8154334 1370 13 111154159 111154159 C T intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs388222 0.47 0.47 0.451 0.428714 0.3936 0.6151 0.4914 0.348 0.3374 0.41 0.65 0.49 0.33 0.4095 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368645 NA NA 0.381504 0.325111 NA 0.355 NA 2.815396 1370 4 7726847 7726847 A G intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs2285777 0.38 0.38 0.364 0.393171 0.4225 0.4425 0.2752 0.3601 0.4407 0.41 0.41 0.32 0.35 0.3776 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15412 NA NA 0.384661 0.351897 NA 0.312 NA 2.815239 1371 9 35650458 35650458 G A intronic SIT1 NA NA NA intronic ENSG00000137078 NA NA NA NA NA 9p13.3 NA NA Name=32 NA rs2297880 0.62 0.62 0.581 0.608027 0.7366 0.5605 0.6398 0.5507 0.5798 0.72 0.54 0.62 0.54 0.6978 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.591039 NA NA 0.75093 0.560826 NA 0.58 NA 2.81467 1371 8 138296103 138296103 G C intergenic KHDRBS3,FAM135B dist=1636255;dist=846163 NA NA intergenic ENSG00000206678,ENSG00000254076 dist=178402;dist=412864 NA NA NA NA 8q24.23 NA NA NA NA rs12334717 0.58 0.58 0.554 0.625 0.5189 0.6815 0.6614 0.5537 0.7464 0.51 0.72 0.62 0.5 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265062 NA NA NA NA NA 0.739 NA 2.8144334 1371 9 33060416 33060416 C T intronic SMU1 NA NA NA intronic ENSG00000122692 NA NA NA NA NA 9p21.1 NA NA NA NA rs1537041 0.37 0.37 0.354 0.329073 0.4125 0.2857 0.3948 0.3215 0.2515 0.42 0.31 0.41 0.34 0.3618 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270156 NA NA 0.411607 0.312528 NA 0.442 NA 2.814093 1371 1 43869235 43869235 G C intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA NA NA rs710249 0.3 0.3 0.269 0.242212 0.4215 0.1062 0.3934 0.2345 0.1012 0.43 0.11 0.42 0.25 0.3425 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816901 NA NA 0.422209 0.284839 NA 0.384 NA 2.813791 1371 5 169138909 169138909 G A intronic DOCK2 NA NA NA intronic ENSG00000134516 NA NA NA NA NA 5q35.1 NA NA NA NA rs2306558 0.37 0.37 0.351 0.329273 0.4125 0.5913 0.2752 0.0877 0.3384 0.38 0.59 0.31 0.12 0.3679 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458771 NA NA 0.406163 0.145256 NA 0.37 NA 2.813437 1371 18 28923984 28923984 T A intronic DSG1 NA NA NA ncRNA_intronic ENSG00000266729 NA NA NA NA NA 18q12.1 NA NA NA NA rs6506918 0.53 0.53 0.342 0.648962 0.6163 0.3095 0.4395 0.9743 0.7413 0.51 0.31 0.46 0.89 0.6086 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252036 NA NA 0.295275 0.760554 NA 0.225 NA 2.8131583 1371 6 132644035 132644035 G A intronic MOXD1 NA NA NA intronic ENSG00000079931 NA NA NA NA NA 6q23.2 NA NA NA NA rs604196 0.56 0.56 0.588 0.609425 0.3499 0.6637 0.4539 0.854 0.6002 0.35 0.67 0.44 0.85 0.4745 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.274646 1.274646 NA 0.363224 0.783704 NA 0.659 NA 2.812376 1371 20 31624368 31624368 C T intronic BPIFB6 NA NA NA intronic ENSG00000167104 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059035 0.49 0.49 0.459 0.508986 0.3907 0.7232 0.4669 0.4251 0.5532 0.39 0.71 0.44 0.41 0.4222 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497055 NA NA 0.374767 0.409442 NA 0.449 NA 2.812333 1371 4 169931268 169931268 G A UTR5 CBR4 NM_032783:c.-28C>T NA NA UTR5 ENSG00000145439 ENST00000510042:c.-28C>T,ENST00000306193:c.-28C>T,ENST00000504480:c.-28C>T,ENST00000506808:c.-28C>T,ENST00000507752:c.-28C>T NA NA NA NA 4q32.3 NA Name=Pol2-4H8,TAF7_(SQ-8),Pol2(phosphoS2),Pol2,TAF1,CTCF,HEY1 NA NA rs28371817 0.84 0.84 0.849 0.809904 0.8588 0.998 0.7839 0.6203 0.8405 0.87 1 0.77 0.68 0.8307 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536573 NA NA 0.831512 0.662506 NA 0.746 NA 2.8123214 1371 1 120378678 120378678 C T exonic NBPF7 NA synonymous SNV NBPF7:NM_001047980:exon7:c.G1068A:p.Q356Q ncRNA_exonic ENSG00000215864 NA NA NA NA NA 1p12 NA NA NA NA rs3009182 0.63 0.63 0.607 0.628395 0.8121 0.4673 0.7118 0.4107 0.8405 0.82 0.51 0.75 0.4 0.7508 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205345 NA NA 0.791546 0.477319 NA 0.717 NA 2.8122206 1371 20 31622768 31622768 C A intronic BPIFB6 NA NA NA intronic ENSG00000167104 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059032 0.49 0.49 0.456 0.507987 0.3907 0.7222 0.4654 0.4244 0.5511 0.39 0.71 0.44 0.42 0.4225 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563589 NA NA 0.374651 0.407399 NA 0.449 NA 2.812149 1371 10 118404620 118404620 A G UTR3 PNLIPRP2 NM_005396:c.*12A>G NA NA UTR3 ENSG00000165862 ENST00000537242:c.*12A>G NA NA NA NA 10q25.3 NA NA NA NA rs2301179 0.48 0.48 0.462 0.470847 0.5229 0.2688 0.4496 0.6203 0.4387 0.53 0.27 0.48 0.64 0.4954 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278714 NA NA 0.503277 0.62361 NA 0.377 NA 2.8117564 1371 3 130748733 130748733 A G intronic NEK11 NA NA NA intronic ENSG00000114670 NA NA NA NA NA 3q22.1 NA NA NA NA rs9864242 0.27 0.27 0.256 0.244209 0.4215 0.2599 0.3732 0.0212 0.2556 0.4 0.26 0.38 0.03 0.3512 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.078556 NA NA 0.41593 0.078302 NA 0.268 NA 2.81137 1371 1 183084608 183084608 C A intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs2027082 0.45 0.45 0.029 0.530351 0.5636 0.628 0.6254 0.3268 0.6033 0.48 0.52 0.52 0.27 0.5695 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442149 NA NA 0.055581 0.034271 NA NA NA 2.811319 1371 1 245245378 245245378 T C intronic EFCAB2 NA NA NA intronic ENSG00000203666 NA NA NA NA NA 1q44 NA NA NA NA rs10927386 0.32 0.32 0.329 0.301717 0.4463 0.1935 0.2853 0.2943 0.2863 0.43 0.22 0.31 0.3 0.3477 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243563 NA NA 0.395116 0.287335 ID=COSM146845;OCCURENCE=1(stomach) 0.362 NA 2.810884 1371 20 4155948 4155948 G A intronic SMOX NA NA NA intronic ENSG00000088826 NA NA NA NA NA 20p13 NA NA NA NA rs1741315 0.34 0.34 0.299 0.282748 0.3867 0.4355 0.389 0.1074 0.18 0.42 0.4 0.37 0.12 0.3783 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.354618 3.354618 NA 0.424302 0.169315 ID=COSN166472;OCCURENCE=1(NS),1(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.232 NA 2.810698 1371 5 149497177 149497177 T C intronic PDGFRB NA NA NA intronic ENSG00000113721 NA NA NA NA NA 5q32 NA NA NA NA rs246391 0.3 0.3 0.291 0.298922 0.3966 0.1071 0.3228 0.3525 0.3067 0.4 0.1 0.34 0.34 0.3564 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256692 NA NA 0.436744 0.359737 ID=COSM149994;OCCURENCE=1(stomach) 0.304 NA 2.810256 1371 1 68943665 68943665 T G intronic DEPDC1 NA NA NA intronic ENSG00000024526 NA NA NA NA NA 1p31.2 NA NA NA NA rs12119046 0.27 0.27 0.285 0.26877 0.4264 0.0317 0.3098 0.323 0.2485 0.39 0.03 0.35 0.29 0.3361 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647274 NA NA 0.427607 0.33636 NA 0.254 NA 2.809893 1371 7 91674302 91674302 G A intronic AKAP9 NA NA NA intronic ENSG00000127914 NA NA NA NA NA 7q21.2 NA NA NA NA rs9785013 0.41 0.41 0.43 0.428514 0.3877 0.1825 0.3689 0.6793 0.4274 0.39 0.19 0.39 0.7 0.3993 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352875 NA NA 0.40314 0.639355 NA 0.493 NA 2.80986 1371 14 93182466 93182466 G A intronic LGMN NA NA NA intronic ENSG00000100600 NA NA NA NA NA 14q32.12 NA NA NA NA rs1242119 0.25 0.25 0.206 0.228634 0.4225 0.0923 0.5317 0.053 0.1922 0.41 0.08 0.46 0.05 0.3575 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164077 NA NA 0.411395 0.104176 NA 0.225 NA 2.808605 1371 3 75388243 75388243 T C intergenic MIR4444-1,FAM86DP dist=124544;dist=82460 NA NA upstream ENSG00000228868 NA NA NA NA NA 3p12.3 NA NA NA NA rs6798065 0.68 0.68 0.651 0.63738 0.6918 0.8294 0.7594 0.3744 0.6524 0.69 0.85 0.73 0.41 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017371 NA NA NA NA NA 0.681 NA 2.8082 1371 19 36276403 36276403 T G intronic ARHGAP33 NA NA NA intronic ENSG00000004777 NA NA NA NA NA 19q13.12 NA NA NA NA rs120959 0.57 0.57 0.55 0.563698 0.3688 0.7272 0.5922 0.6846 0.4121 0.37 0.74 0.57 0.7 0.4605 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419041 NA NA 0.362558 0.627157 NA 0.551 NA 2.808142 1371 21 31973405 31973405 C T upstream KRTAP22-1 NA NA NA upstream ENSG00000186924 NA NA NA NA NA 21q22.11 NA NA NA NA rs198914 0.25 0.25 0.234 0.21226 0.2913 0.2986 0.2767 0.0582 0.2045 0.3 0.3 0.28 0.08 0.2742 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72004 NA NA 0.293256 0.109169 ID=COSN166631;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.159 NA 2.8079106 1371 10 99153540 99153540 T G intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA NA NA NA rs7898743 0.47 0.47 0.51 0.502596 0.3857 0.4623 0.4121 0.6725 0.499 0.39 0.44 0.39 0.71 0.4215 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318763 1.318763 NA 0.385465 0.603722 NA 0.428 NA 2.807335 1371 15 91430617 91430617 G A intronic FES NA NA NA intronic ENSG00000182511 NA NA NA NA NA 15q26.1 NA NA NA NA rs2071384 0.45 0.45 0.413 0.453674 0.3748 0.7817 0.5764 0.1278 0.5501 0.36 0.81 0.54 0.12 0.4634 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590786 NA NA 0.35488 0.165516 NA 0.348 NA 2.80692 1371 8 143998662 143998662 G A intronic CYP11B2 NA NA NA intronic ENSG00000179142 NA NA NA NA NA 8q24.3 NA NA NA NA rs13276226 0.26 0.26 0.238 0.223642 0.4095 0.1577 0.3098 0.0295 0.3016 0.42 0.15 0.36 0.05 0.3488 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517308 NA NA 0.435116 0.09192 NA 0.225 NA 2.806584 1371 12 108203513 108203513 C T intergenic ASCL4,LOC728739 dist=33092;dist=93414 NA NA intergenic ENSG00000263632,ENSG00000257141 dist=10016;dist=23122 NA NA NA NA 12q23.3 NA NA NA NA rs10861793 0.42 0.42 0.427 0.414137 0.5268 0.1508 0.4179 0.6067 0.3067 0.52 0.12 0.46 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036531 NA NA NA NA NA 0.399 NA 2.8065334 1371 12 108203599 108203599 T A intergenic ASCL4,LOC728739 dist=33178;dist=93328 NA NA intergenic ENSG00000263632,ENSG00000257141 dist=10102;dist=23036 NA NA NA NA 12q23.3 NA NA NA NA rs10861794 0.42 0.42 0.43 0.414137 0.5268 0.1508 0.4179 0.6067 0.3067 0.52 0.12 0.46 0.6 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643556 NA NA NA NA NA 0.406 NA 2.8065334 1371 4 44626846 44626846 G A intronic YIPF7 NA NA NA intronic ENSG00000177752 NA NA NA NA NA 4p12 NA NA NA NA rs6838327 0.52 0.52 0.544 0.552117 0.4095 0.5595 0.4625 0.6884 0.5706 0.4 0.56 0.46 0.7 0.4198 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479391 NA NA 0.364172 0.611196 NA 0.377 NA 2.806528 1371 11 67264679 67264679 C T intronic PITPNM1 NA NA NA intronic ENSG00000110697 NA NA NA NA NA 11q13.2 NA NA NA NA rs2276120 0.31 0.31 0.265 0.291933 0.3986 0.1925 0.4885 0.2095 0.2566 0.4 0.17 0.48 0.21 0.3862 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303043 NA NA 0.408677 0.227418 NA 0.333 NA 2.806523 1371 22 43442599 43442599 T C intronic TTLL1 NA NA NA ncRNA_intronic ENSG00000230319 NA NA NA NA NA 22q13.2 NA NA NA NA rs5759111 0.67 0.67 0.671 0.686901 0.4612 0.8343 0.7133 0.829 0.5562 0.46 0.81 0.69 0.84 0.5713 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434059 NA NA 0.494535 0.783931 NA 0.58 NA 2.8062983 1371 7 91707197 91707197 C T intronic AKAP9 NA NA NA intronic ENSG00000127914 NA NA NA NA NA 7q21.2 NA NA NA NA rs733957 0.36 0.36 0.35 0.36242 0.3857 0.1617 0.3559 0.466 0.41 0.39 0.17 0.38 0.5 0.4076 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145749 NA NA 0.400442 0.478844 NA 0.297 NA 2.806258 1371 13 53287023 53287023 G C intronic LECT1 NA NA NA intronic ENSG00000136110 NA NA NA NA NA 13q14.3 NA NA NA NA rs2147692 0.3 0.3 0.252 0.262979 0.4364 0.2073 0.366 0.1445 0.229 0.42 0.2 0.36 0.17 0.3606 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033728 NA NA 0.396977 0.179982 NA 0.196 NA 2.806023 1371 7 100695058 100695058 T C intronic MUC17 NA NA NA intronic ENSG00000169876 NA NA NA NA NA 7q22.1 NA Name=ZNF263 NA NA rs6966570 0.79 0.79 0.832 0.79972 0.7346 0.8413 0.5548 0.9539 0.7894 0.74 0.82 0.61 0.95 0.7344 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.452847 NA NA 0.725698 0.913527 NA 0.754 NA 2.805302 1371 18 43666952 43666952 C A intronic ATP5A1 NA NA NA intronic ENSG00000152234 NA NA NA NA NA 18q21.1 NA NA NA NA rs8097521 0.26 0.26 0.272 0.316294 0.3917 0.0635 0.317 0.3684 0.4284 0.36 0.05 0.28 0.33 0.3858 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311677 NA NA 0.417249 0.360455 NA 0.478 NA 2.805251 1371 7 142161763 142161763 T C intergenic LOC730441,MTRNR2L6 dist=189695;dist=212368 NA NA downstream ENSG00000211724 NA NA NA NA NA 7q34 NA NA NA NA rs361446 0.66 0.66 0.646 0.622404 0.6948 0.7927 0.5403 0.4758 0.6288 0.7 0.82 0.56 0.47 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153186 NA NA NA NA NA 0.587 NA 2.8052 1371 17 40639422 40639422 G A intronic ATP6V0A1 NA NA NA intronic ENSG00000033627 NA NA NA NA NA 17q21.2 NA NA NA NA rs8069972 0.39 0.39 0.371 0.337061 0.4195 0.5516 0.4352 0.0726 0.319 0.41 0.56 0.47 0.1 0.378 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271848 NA NA 0.397326 0.129823 NA 0.232 NA 2.805174 1371 6 70873331 70873331 G A intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs2296010 0.34 0.34 0.352 0.354832 0.4115 0.252 0.33 0.3381 0.4427 0.41 0.26 0.33 0.35 0.3896 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.346192 1.346192 NA 0.393837 0.353609 NA 0.37 NA 2.805063 1372 10 99437822 99437822 A G intronic AVPI1 NA NA NA intronic ENSG00000119986 NA NA NA NA NA 10q24.2 NA NA NA NA rs3750564 0.47 0.47 0.47 0.508586 0.3579 0.4772 0.4395 0.6967 0.4908 0.36 0.46 0.41 0.69 0.4393 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341929 NA NA 0.398256 0.646845 ID=COSN163730;OCCURENCE=1(breast) 0.543 NA 2.804544 1372 1 42414686 42414686 A G intergenic HIVEP3,NONE dist=30308;dist=NONE NA NA intergenic ENSG00000127124,ENSG00000227538 dist=30308;dist=91582 NA NA NA NA 1p34.2 NA NA NA NA rs10789411 0.47 0.47 0.49 0.455671 0.5288 0.6895 0.304 0.2352 0.545 0.51 0.69 0.33 0.26 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638221 NA NA NA NA NA 0.391 NA 2.8045334 1372 3 153994502 153994502 T C intronic DHX36 NA NA NA intronic ENSG00000174953 NA NA NA NA NA 3q25.2 NA NA Name=2 NA rs355787 0.63 0.63 0.612 0.674321 0.7684 0.631 0.634 0.5749 0.7853 0.73 0.57 0.62 0.55 0.7216 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299131 NA NA 0.706047 0.542215 NA 0.413 NA 2.803953 1372 19 36273230 36273230 C G intronic ARHGAP33 NA NA NA intronic ENSG00000004777 NA NA NA NA NA 19q13.12 NA NA NA NA rs231223 0.54 0.54 0.51 0.543331 0.3698 0.627 0.5922 0.6846 0.41 0.37 0.62 0.57 0.69 0.4602 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271919 NA NA 0.366047 0.633908 NA 0.551 NA 2.803953 1372 14 106471534 106471534 A G intergenic ADAM6,LINC00226 dist=33176;dist=272735 NA NA exonic ENSG00000211935 NA synonymous SNV ENSG00000211935:ENST00000390595:exon2:c.T63C:p.V21V NA NA 14q32.33 NA NA NA NA rs36065697 0.49 0.49 0.463 0.605631 0.5944 0.7361 0.5706 0.438 0.7342 0.48 0.66 0.46 0.31 0.515 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264782 NA NA 0.587325 0.463382 NA 0.413 NA 2.803275 1372 10 120692835 120692835 C T intergenic CACUL1,NANOS1 dist=178077;dist=96393 NA NA upstream ENSG00000213574 NA NA NA NA NA 10q26.11 NA NA NA NA rs10787881 0.61 0.61 0.563 0.557907 0.6968 0.7688 0.6729 0.1823 0.6237 0.71 0.78 0.66 0.21 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969986 NA NA NA NA NA 0.616 NA 2.8032 1372 1 201331554 201331554 T G intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA Score=476;Name=lod=115 NA 1q32.1 NA NA NA NA rs1104859 0.72 0.72 0.713 0.742212 0.7445 0.5268 0.7983 0.7995 0.8446 0.74 0.56 0.81 0.8 0.7335 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.43694 2.43694 NA 0.719186 0.763277 NA 0.819 NA 2.802814 1372 2 69586370 69586370 A G intronic GFPT1 NA NA NA intronic ENSG00000198380 NA NA NA NA NA 2p13.3 NA NA NA NA rs67760762 0.26 0.26 0.23 0.24401 0.4095 0.2103 0.3559 0.0272 0.3221 0.41 0.19 0.36 0.03 0.3655 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79905 NA NA 0.422791 0.089424 NA 0.312 NA 2.802209 1372 7 142157358 142157358 A G intergenic LOC730441,MTRNR2L6 dist=185290;dist=216773 NA NA downstream ENSG00000227550 NA NA NA NA NA 7q34 NA NA NA NA rs361399 0.7 0.7 0.679 0.690296 0.6978 0.7927 0.5749 0.7118 0.6299 0.7 0.81 0.6 0.66 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069149 NA NA NA NA NA 0.645 NA 2.8022 1372 6 109993291 109993291 G A intronic AK9 NA NA NA intronic ENSG00000155085 NA NA NA NA NA 6q21 NA NA NA NA rs12197838 0.37 0.37 0.337 0.349441 0.4095 0.377 0.4063 0.1694 0.4622 0.41 0.45 0.4 0.17 0.3931 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301537 NA NA 0.395858 0.201997 NA 0.29 NA 2.801542 1372 4 190076486 190076486 C T intergenic LOC401164,FRG1 dist=553424;dist=785488 NA NA intergenic ENSG00000250024,ENSG00000251310 dist=153257;dist=37768 NA NA NA NA 4q35.2 NA NA NA NA rs6818132 NA NA 0.354 0.517173 0.5318 0.5377 0.5389 0.475 0.5225 NA NA NA NA NA 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440217 NA NA NA NA NA 0.058 NA 2.8015334 1372 5 178996435 178996435 A G intronic RUFY1 NA NA NA intronic ENSG00000176783 NA NA NA NA NA 5q35.3 NA NA NA NA rs11743261 0.49 0.49 0.486 0.488618 0.3658 0.7312 0.513 0.3956 0.4734 0.35 0.74 0.51 0.4 0.4461 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.08464 4.08464 NA 0.38686 0.395597 NA 0.406 NA 2.80124 1372 6 31113275 31113275 A G intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs886401 0.42 0.42 0.035 0.516973 0.5636 0.3512 0.5 0.6248 0.5061 0.45 0.31 0.46 0.49 0.6048 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.810664 NA NA 0.030465 0.040853 NA NA NA 2.801135 1372 5 7927668 7927668 C G intergenic MTRR,LOC729506 dist=26433;dist=405928 NA NA intergenic ENSG00000251168,ENSG00000199773 dist=2157;dist=52591 NA NA NA NA 5p15.31 NA NA NA NA rs60293486 0.46 0.46 0.417 0.476837 0.5328 0.503 0.4539 0.2761 0.68 0.53 0.48 0.49 0.29 NA 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560021 NA NA NA NA NA 0.42 NA 2.8005334 1372 10 134884546 134884546 A G intergenic LOC399829,GPR123 dist=94545;dist=16863 NA NA exonic ENSG00000197177 NA synonymous SNV ENSG00000197177:ENST00000607359:exon1:c.A114G:p.T38T NA NA 10q26.3 NA NA NA NA rs4576736 0.61 0.61 0.61 0.623802 0.5716 0.6558 0.536 0.6657 0.6503 0.58 0.68 0.56 0.62 0.5824 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527997 NA NA 0.545531 0.653329 NA 0.645 NA 2.800469 1372 7 618869 618869 G A intronic PRKAR1B NA NA NA intronic ENSG00000188191 NA NA NA NA NA 7p22.3 NA NA NA NA rs62431412 0.39 0.39 0.374 0.353634 0.4414 0.2688 0.33 0.5083 0.1585 0.44 0.25 0.35 0.5 0.3643 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015854 NA NA 0.393971 0.479573 NA 0.442 NA 2.800329 1372 10 37447358 37447358 T G intronic ANKRD30A NA NA NA intronic ENSG00000148513 NA NA NA NA NA 10p11.21 NA NA NA NA rs1200881 0.42 0.42 0.348 0.322085 0.4344 0.2004 0.3847 0.4266 0.1462 0.48 0.22 0.49 0.48 0.3571 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373263 NA NA 0.408198 0.429402 NA 0.333 NA 2.800302 1372 7 618855 618855 T C intronic PRKAR1B NA NA NA intronic ENSG00000188191 NA NA NA NA NA 7p22.3 NA NA NA NA rs62431411 0.39 0.39 0.368 0.353634 0.4414 0.2698 0.33 0.5076 0.1585 0.44 0.25 0.35 0.5 0.3644 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2514 NA NA 0.394088 0.479573 NA 0.457 NA 2.800112 1372 8 145692762 145692762 G T intronic KIFC2 NA NA NA intronic ENSG00000167702 NA NA NA NA NA 8q24.3 NA NA NA NA rs2291133 0.31 0.31 0.295 0.302117 0.4165 0.254 0.3156 0.1619 0.4141 0.42 0.29 0.29 0.17 0.3741 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.517966 1.517966 NA 0.409408 0.209186 NA 0.348 NA 2.799992 1372 4 38995310 38995310 A G intronic TMEM156 NA NA NA intronic ENSG00000121895 NA NA NA NA NA 4p14 NA NA NA NA rs11721954 0.42 0.42 0.4 0.408946 0.4006 0.623 0.3876 0.2095 0.4816 0.4 0.63 0.35 0.24 0.4036 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631172 NA NA 0.396022 0.231153 NA 0.464 NA 2.799778 1372 22 45937061 45937061 G A intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs136756 0.29 0.29 0.302 0.260383 0.4274 0.1825 0.2579 0.2156 0.2311 0.43 0.17 0.29 0.21 0.3572 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558572 NA NA 0.415814 0.245574 NA 0.355 NA 2.799586 1372 10 134884516 134884516 G A intergenic LOC399829,GPR123 dist=94515;dist=16893 NA NA exonic ENSG00000197177 NA synonymous SNV ENSG00000197177:ENST00000607359:exon1:c.G84A:p.A28A NA NA 10q26.3 NA NA NA NA rs4271312 0.61 0.61 0.613 0.623203 0.5716 0.6567 0.536 0.6619 0.6513 0.58 0.68 0.56 0.62 0.5834 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066508 NA NA 0.545429 0.650799 NA 0.652 NA 2.799571 1372 20 44174423 44174423 G A intronic EPPIN,EPPIN-WFDC6 NA NA NA exonic ENSG00000101448 NA synonymous SNV ENSG00000101448:ENST00000336443:exon1:c.C30T:p.T10T NA NA 20q13.12 NA NA NA NA rs765156 0.67 0.67 0.667 0.670927 0.6819 0.6329 0.7493 0.7216 0.5746 0.69 0.62 0.72 0.67 0.6759 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190447 NA NA 0.676047 0.720835 NA 0.754 NA 2.7994863 1372 18 7034464 7034464 T A intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs674733 0.4 0.4 0.389 0.405751 0.4046 0.131 0.3905 0.7065 0.2945 0.41 0.16 0.36 0.71 0.3966 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824562 NA NA 0.399419 0.636859 NA 0.42 NA 2.799381 1372 11 43772549 43772549 A G intronic HSD17B12 NA NA NA intronic ENSG00000149084 NA NA NA NA NA 11p11.2 NA NA NA NA rs12801203 0.41 0.41 0.392 0.36222 0.3917 0.6736 0.3429 0.0991 0.3804 0.4 0.73 0.33 0.1 0.4141 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107263 NA NA 0.394964 0.158893 NA 0.225 NA 2.799236 1372 6 152461061 152461061 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.1 NA NA NA NA rs3818110 0.41 0.41 0.351 0.444489 0.4046 0.2966 0.5389 0.5492 0.4294 0.38 0.27 0.54 0.54 0.4023 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497153 NA NA 0.39407 0.527463 NA 0.246 NA 2.79903 1372 19 57665750 57665750 T C UTR3 DUXA NM_001012729:c.*30A>G NA NA UTR3 ENSG00000258873 ENST00000554048:c.*30A>G NA NA NA NA 19q13.43 NA NA NA NA rs8108591 0.42 0.42 0.402 0.422923 0.5109 0.3085 0.4625 0.3548 0.5143 0.5 0.3 0.51 0.35 0.4909 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225273 NA NA 0.532558 0.397186 NA 0.341 NA 2.7989754 1372 19 39976969 39976969 T C intronic TIMM50 NA NA NA intronic ENSG00000105197 NA NA NA NA NA 19q13.2 NA NA NA NA rs1865094 0.38 0.38 0.36 0.40615 0.4046 0.3988 0.3833 0.3215 0.546 0.41 0.37 0.41 0.31 0.4155 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.237971 NA NA 0.38093 0.351793 NA 0.297 NA 2.79897 1372 1 203465396 203465396 T C intronic OPTC NA NA NA intronic ENSG00000188770 NA NA NA NA NA 1q32.1 NA NA NA NA rs2242199 0.39 0.39 0.35 0.385184 0.4125 0.4692 0.3487 0.2912 0.4233 0.41 0.46 0.34 0.3 0.4039 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.227653 NA NA 0.384651 0.317522 NA 0.486 NA 2.798949 1372 8 143921804 143921804 C T intronic GML NA NA NA intronic ENSG00000104499 NA NA NA NA NA 8q24.3 NA NA NA NA rs3750246 0.29 0.29 0.265 0.286142 0.4314 0.2887 0.4395 0.0325 0.3681 0.42 0.28 0.39 0.03 0.3653 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910183 NA NA 0.405 0.105538 NA 0.297 NA 2.7983 1372 10 37441072 37441072 T G intronic ANKRD30A NA NA NA intronic ENSG00000148513 NA NA NA NA NA 10p11.21 NA NA NA NA rs1148257 0.37 0.37 0.322 0.32528 0.4344 0.2004 0.3847 0.4372 0.1483 0.44 0.2 0.42 0.41 0.3601 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066312 NA NA 0.407366 0.4399 NA 0.341 NA 2.798134 1372 12 52711416 52711416 A G intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2852460 0.36 0.36 0.352 0.375799 0.4095 0.1885 0.317 0.5008 0.407 0.4 0.19 0.33 0.51 0.3827 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98256 NA NA 0.41 0.489106 NA 0.406 NA 2.7978 1372 14 23282699 23282699 A T intronic SLC7A7 NA NA NA intronic ENSG00000155465 NA NA NA NA NA 14q11.2 NA NA NA NA rs3829407 0.64 0.64 0.624 0.60603 0.5964 0.7857 0.7104 0.4947 0.5072 0.6 0.8 0.7 0.48 0.6062 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47718 NA NA NA NA NA 0.493 NA 2.7974 1372 12 52710246 52710246 T C intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2270267 0.36 0.36 0.358 0.375599 0.4095 0.1885 0.317 0.5008 0.4059 0.4 0.19 0.33 0.51 0.3826 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6554 NA NA 0.410581 0.489333 ID=COSM147522;OCCURENCE=1(stomach) 0.428 NA 2.797319 1372 6 44253749 44253749 A G exonic TCTE1 NA synonymous SNV TCTE1:NM_182539:exon3:c.T798C:p.R266R exonic ENSG00000146221 NA synonymous SNV ENSG00000146221:ENST00000371504:exon1:c.T339C:p.R113R,ENSG00000146221:ENST00000371503:exon3:c.T339C:p.R113R,ENSG00000146221:ENST00000371505:exon3:c.T798C:p.R266R NA NA 6p21.1 NA NA NA NA rs324143 0.9 0.9 0.883 0.879792 0.9612 0.9851 0.9424 0.6498 0.954 0.96 0.98 0.94 0.67 0.9435 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.148411 NA NA 0.964884 0.712892 NA 0.855 NA 2.7970826 1372 6 44268371 44268371 T C exonic AARS2 NA synonymous SNV AARS2:NM_020745:exon22:c.A2871G:p.S957S exonic ENSG00000124608 NA synonymous SNV ENSG00000124608:ENST00000244571:exon22:c.A2871G:p.S957S NA NA 6p21.1 NA NA NA NA rs325008 0.89 0.89 0.874 0.869409 0.9612 0.998 0.9496 0.5976 0.953 0.96 1 0.95 0.6 0.9426 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65973 NA NA 0.966047 0.685883 NA 0.855 NA 2.7968196 1372 9 4850436 4850436 G T intronic RCL1 NA NA NA intronic ENSG00000120158 NA NA NA NA NA 9p24.1 NA NA NA NA rs462480 0.6 0.6 0.598 0.554912 0.6014 0.745 0.5216 0.5023 0.4059 0.59 0.72 0.56 0.5 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477156 NA NA 0.601823 0.529624 NA 0.536 NA 2.796777 1372 6 25924158 25924158 T C intronic SLC17A2 NA NA NA intronic ENSG00000112337 NA NA NA NA NA 6p22.2 NA NA NA NA rs1540273 0.43 0.43 0.376 0.39976 0.4026 0.6954 0.4568 0.143 0.3988 0.39 0.71 0.41 0.16 0.4113 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628789 NA NA 0.389884 0.18611 NA 0.246 NA 2.796216 1372 12 52711776 52711776 G A intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2852459 0.36 0.36 0.367 0.376198 0.4105 0.1885 0.3213 0.4992 0.407 0.4 0.19 0.34 0.51 0.3831 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480519 NA NA 0.410233 0.488652 ID=COSN164259;OCCURENCE=1(breast) 0.42 NA 2.796167 1372 9 740972 740972 G C intronic KANK1 NA NA NA intronic ENSG00000107104 NA NA NA NA NA 9p24.3 NA NA NA NA rs7032867 0.35 0.35 0.373 0.375799 0.4195 0.1815 0.2723 0.4864 0.455 0.41 0.16 0.29 0.52 0.3869 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.900579 NA NA 0.397674 0.475942 NA 0.384 NA 2.795926 1372 2 169763148 169763148 T C intronic G6PC2 NA NA NA intronic ENSG00000152253,ENSG00000152254 NA NA NA NA Name=Metabolite levels,Fasting glucose-related traits (interaction with BMI),Metabolic syndrome,Fasting plasma glucose,Metabolic traits,Fasting glucose-related traits 2q31.1 NA NA NA NA rs560887 0.85 0.85 0.859 0.886981 0.7008 0.9782 0.8127 0.9894 0.8988 0.69 0.97 0.79 0.99 0.7894 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.447869 2.447869 NA 0.71407 0.944621 NA 0.783 NA 2.79573 1373 8 72966124 72966124 A G ncRNA_exonic LOC100132891 NA NA NA intronic ENSG00000104321,ENSG00000235531 NA NA NA NA NA 8q13.3 NA NA NA NA rs3735944 0.56 0.56 0.501 0.580671 0.4791 0.6905 0.6686 0.5091 0.6063 0.49 0.7 0.62 0.47 0.5672 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156658 NA NA 0.492326 0.509305 NA 0.558 NA 2.7947073 1373 6 44247951 44247951 T G exonic TCTE1 NA synonymous SNV TCTE1:NM_182539:exon5:c.A1473C:p.I491I exonic ENSG00000146221 NA synonymous SNV ENSG00000146221:ENST00000371504:exon2:c.A564C:p.I188I,ENSG00000146221:ENST00000371503:exon4:c.A564C:p.I188I,ENSG00000146221:ENST00000371505:exon5:c.A1473C:p.I491I NA NA 6p21.1 NA NA NA NA rs484757 0.9 0.9 0.893 0.883586 0.9612 1 0.9496 0.6505 0.9519 0.96 1 0.95 0.67 0.9454 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124307 NA NA 0.965465 0.713572 NA 0.87 NA 2.7946016 1373 8 27312040 27312040 C T intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs10093964 0.38 0.38 0.372 0.428115 0.3956 0.1964 0.4107 0.6384 0.4284 0.41 0.16 0.38 0.6 0.4022 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527229 1.527229 NA 0.407791 0.589877 NA 0.551 NA 2.794409 1373 7 142157371 142157371 A G intergenic LOC730441,MTRNR2L6 dist=185303;dist=216760 NA NA downstream ENSG00000227550 NA NA NA NA NA 7q34 NA NA NA NA rs361398 0.7 0.7 0.685 0.693091 0.7058 0.7966 0.5807 0.7095 0.6309 0.69 0.79 0.59 0.66 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338652 NA NA NA NA NA 0.645 NA 2.7942 1373 2 44071639 44071639 C T intronic ABCG8 NA NA NA intronic ENSG00000143921 NA NA NA NA NA 2p21 NA NA NA NA rs4148210 0.51 0.51 0.489 0.515974 0.3718 0.8512 0.3862 0.4175 0.544 0.39 0.86 0.35 0.39 0.4491 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.16532 NA NA 0.385 0.411257 NA 0.377 NA 2.7941 1373 12 3387555 3387555 C T intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA NA NA rs651243 0.35 0.35 0.36 0.337061 0.4145 0.1984 0.4121 0.3646 0.3098 0.4 0.21 0.46 0.37 0.3797 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806265 NA NA 0.412442 0.396051 NA 0.507 NA 2.793358 1373 15 101569467 101569467 T C intronic LRRK1 NA NA NA intronic ENSG00000154237 NA NA NA NA NA 15q26.3 NA Name=CTCF NA NA rs11639307 0.6 0.6 0.572 0.577077 0.7555 0.5317 0.6499 0.2761 0.7955 0.76 0.57 0.65 0.35 0.7007 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198198 NA NA 0.750475 0.344952 NA 0.609 NA 2.793325 1373 22 30384572 30384572 G A intronic MTMR3 NA NA NA intronic ENSG00000100330 NA NA NA NA NA 22q12.2 NA NA NA NA rs5763671 0.44 0.44 0.433 0.404353 0.4175 0.7054 0.3847 0.1838 0.3926 0.42 0.7 0.4 0.21 0.3955 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.824257 1.824257 NA 0.393721 0.212438 NA 0.355 NA 2.793279 1373 4 104063071 104063071 C T intronic CENPE NA NA NA intronic ENSG00000138778 NA NA NA NA NA 4q24 NA NA NA NA rs2711898 0.43 0.43 0.443 0.449681 0.4076 0.3006 0.353 0.6725 0.4141 0.42 0.27 0.37 0.68 0.4066 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.173753 NA NA 0.392524 0.581781 ID=COSM149720;OCCURENCE=1(stomach) 0.5 NA 2.793276 1373 1 212615875 212615875 T C intronic NENF NA NA NA intronic ENSG00000117691 NA NA NA NA NA 1q32.3 NA NA NA NA rs521469 0.49 0.49 0.438 0.473043 0.3807 0.6746 0.562 0.4939 0.2689 0.38 0.66 0.51 0.46 0.427 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29084 NA NA 0.399186 0.480027 NA 0.442 NA 2.793114 1373 17 28268800 28268800 A C UTR5 EFCAB5 NM_198529:c.-15A>C NA NA UTR5 ENSG00000176927 ENST00000378738:c.-15A>C,ENST00000394832:c.-15A>C,ENST00000320856:c.-15A>C,ENST00000394835:c.-15A>C,ENST00000440741:c.-15A>C NA NA NA NA 17q11.2 NA NA NA NA rs4567782 0.55 0.55 0.544 0.546326 0.4712 0.7143 0.572 0.4463 0.5675 0.49 0.72 0.56 0.46 0.5739 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38663 NA NA 0.495121 0.427327 NA 0.659 NA 2.7931124 1373 2 160663435 160663435 T C intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs12463589 0.32 0.32 0.291 0.265375 0.4254 0.2937 0.5447 0.0318 0.1892 0.43 0.31 0.51 0.04 0.3717 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.669653 1.669653 NA 0.409884 0.086927 ID=COSN166307;OCCURENCE=1(breast),1(lung) 0.355 NA 2.793016 1373 12 57486647 57486647 A G intronic NAB2 NA NA NA intronic ENSG00000166886 NA NA NA NA NA 12q13.3 NA NA NA NA rs324019 0.58 0.58 0.591 0.567492 0.5964 0.374 0.6167 0.7337 0.4775 0.59 0.38 0.62 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716879 NA NA 0.610937 0.708815 NA 0.507 NA 2.792663 1373 5 156679576 156679576 T C intronic ITK NA NA NA intronic ENSG00000113263 NA NA NA NA NA 5q33.3 NA NA NA NA rs27341 0.42 0.42 0.413 0.442093 0.3976 0.3085 0.4092 0.6755 0.3333 0.42 0.27 0.39 0.64 0.4149 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033017 NA NA 0.395233 0.62778 NA 0.399 NA 2.792267 1373 22 39448750 39448750 T C UTR3 APOBEC3F NM_145298:c.*50T>C NA NA UTR3 ENSG00000128394 ENST00000308521:c.*50T>C NA NA NA NA 22q13.1 NA NA NA NA rs5757451 0.52 0.52 0.497 0.514976 0.4901 0.7123 0.6239 0.2572 0.6084 0.47 0.71 0.65 0.27 0.5211 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292709 NA NA 0.53 0.300045 NA 0.464 NA 2.7921334 1373 2 170394487 170394487 T A intronic FASTKD1 NA NA NA intronic ENSG00000138399 NA NA NA NA NA 2q31.1 NA NA NA NA rs2290005 0.34 0.34 0.296 0.326478 0.4274 0.4593 0.4697 0.0552 0.3507 0.42 0.44 0.4 0.06 0.3802 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.990679 1.990679 NA 0.400349 0.114441 NA 0.268 NA 2.792051 1373 1 1669748 1669748 A G intronic SLC35E2 NA NA NA intronic ENSG00000215790 NA NA NA NA NA 1p36.33 NA NA NA NA rs4648615 0.32 0.32 0.246 0.304712 0.4245 0.3403 0.5159 0.0605 0.3252 0.43 0.31 0.46 0.06 0.3838 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.673805 NA NA 0.40028 0.099773 NA 0.109 NA 2.79142 1373 22 21340088 21340088 T C intronic LZTR1 NA NA NA intronic ENSG00000099949 NA NA NA NA NA 22q11.21 NA NA NA NA rs178287 0.43 0.43 0.431 0.480032 0.3847 0.4167 0.4769 0.5325 0.5746 0.39 0.37 0.45 0.56 0.4424 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695197 NA NA 0.382209 0.508852 NA 0.623 NA 2.790691 1373 1 36565617 36565617 G A intronic COL8A2 NA NA NA intronic ENSG00000171812 NA NA NA NA NA 1p34.3 NA Name=CTCF,ZNF263 NA NA rs274754 0.5 0.5 0.471 0.482628 0.7753 0.2609 0.5202 0.3268 0.5941 0.76 0.24 0.56 0.37 0.6492 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098461 NA NA 0.785 0.395143 NA 0.616 NA 2.7905 1373 11 117282800 117282800 G T exonic CEP164 NA synonymous SNV CEP164:NM_001271933:exon32:c.G4284T:p.S1428S,CEP164:NM_014956:exon33:c.G4299T:p.S1433S exonic ENSG00000110274 NA synonymous SNV ENSG00000110274:ENST00000278935:exon33:c.G4299T:p.S1433S NA NA 11q23.3 NA NA NA NA rs522885 0.93 0.93 0.942 0.908347 0.9702 0.8284 0.9251 0.9599 0.8456 0.97 0.86 0.93 0.96 0.9383 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108981 NA NA 0.967761 0.958428 NA 0.899 NA 2.7904056 1373 10 21104694 21104694 A T intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 NA NA NA NA rs4748727 0.53 0.53 0.536 0.558906 0.3827 0.6369 0.3602 0.7194 0.5838 0.36 0.66 0.41 0.72 0.4478 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218846 NA NA 0.379362 0.661972 NA 0.536 NA 2.790138 1373 22 39448711 39448711 C A UTR3 APOBEC3F NM_145298:c.*11C>A NA NA UTR3 ENSG00000128394 ENST00000308521:c.*11C>A NA NA NA NA 22q13.1 NA NA NA NA rs6001402 0.52 0.52 0.487 0.514377 0.4901 0.7103 0.6225 0.2572 0.6084 0.47 0.71 0.64 0.27 0.5236 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362194 NA NA 0.529651 0.300045 NA 0.449 NA 2.7899824 1373 2 224743373 224743373 C T UTR3 WDFY1 NM_020830:c.*15G>A NA NA UTR3 ENSG00000085449 ENST00000233055:c.*15G>A NA NA NA NA 2q36.1 NA NA NA NA rs571111 0.39 0.39 0.389 0.396166 0.5298 0.1915 0.4337 0.3722 0.4755 0.52 0.18 0.47 0.38 0.4772 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.036523 NA NA 0.53686 0.396732 NA 0.514 NA 2.7894734 1373 17 61562553 61562553 G A intronic ACE NA NA NA UTR3 ENSG00000159640 ENST00000579726:c.*68G>A NA NA NA NA 17q23.3 NA NA NA NA rs4320 0.51 0.51 0.47 0.52516 0.4245 0.6746 0.5634 0.3971 0.6207 0.43 0.68 0.54 0.41 0.4986 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486398 1.486398 NA 0.454186 0.405129 NA 0.522 NA 2.7893807 1373 5 147505227 147505227 G A intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2112767 0.51 0.51 0.48 0.509585 0.5924 0.4831 0.6398 0.3903 0.5204 0.56 0.46 0.59 0.43 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.305791 1.305791 NA 0.618479 0.421243 NA 0.478 NA 2.789121 1373 10 37451644 37451644 T A intronic ANKRD30A NA NA NA intronic ENSG00000148513 NA NA NA NA NA 10p11.21 NA NA NA NA rs1200878 0.28 0.28 0.294 0.338858 0.4384 0.2222 0.3948 0.4629 0.1493 0.34 0.16 0.35 0.28 0.3635 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125761 NA NA 0.409091 0.464147 NA 0.145 NA 2.789009 1373 9 38615779 38615779 T C intronic ANKRD18A NA NA NA intronic ENSG00000180071 NA NA NA NA NA 9p13.1 NA NA NA NA rs1765381 0.38 0.38 0.317 0.360423 0.3996 0.502 0.4568 0.2012 0.3211 0.38 0.49 0.44 0.21 0.4295 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15101 NA NA 0.38215 0.223988 NA 0.21 NA 2.78875 1373 17 8473182 8473182 G A intronic MYH10 NA NA NA intronic ENSG00000133026 NA NA NA NA NA 17p13.1 NA NA NA NA rs422173 0.44 0.44 0.423 0.442891 0.3718 0.502 0.4366 0.4327 0.4734 0.39 0.49 0.38 0.5 0.4218 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688137 NA NA 0.417713 0.436323 NA 0.42 NA 2.788687 1373 6 10729020 10729020 C T intronic TMEM14C NA NA NA intronic ENSG00000111843 NA NA NA NA NA 6p24.2 NA NA NA NA rs2153073 0.48 0.48 0.426 0.484625 0.6113 0.5278 0.5274 0.2088 0.6524 0.59 0.51 0.57 0.22 0.6002 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085338 NA NA NA NA NA 0.507 NA 2.7885 1373 2 73447775 73447775 A G intronic SMYD5 NA NA NA intronic ENSG00000135632 NA NA NA NA NA 2p13.2 NA NA NA NA rs2303904 0.44 0.44 0.456 0.42492 0.4175 0.3919 0.3761 0.5507 0.3313 0.39 0.42 0.42 0.55 0.3914 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.163955 NA NA 0.402907 0.515887 ID=COSN166138;OCCURENCE=1(breast) 0.543 NA 2.788193 1373 16 28251007 28251007 G A intergenic XPO6,SBK1 dist=27768;dist=52833 NA NA downstream ENSG00000250982 NA NA NA NA NA 16p11.2 NA NA NA NA rs8056552 0.59 0.59 0.536 0.564497 0.7127 0.7133 0.5432 0.239 0.7137 0.71 0.74 0.57 0.25 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784549 NA NA NA NA NA 0.601 NA 2.7873 1373 8 133634814 133634814 C T intronic LRRC6 NA NA NA intronic ENSG00000129295 NA NA NA NA NA 8q24.22 NA NA NA NA rs2272681 0.45 0.45 0.496 0.48143 0.3767 0.2827 0.317 0.8828 0.3681 0.39 0.25 0.36 0.85 0.4153 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.037467 NA NA 0.42093 0.808216 NA 0.587 NA 2.78707 1373 9 132863035 132863035 G C intronic GPR107 NA NA NA intronic ENSG00000148358 NA NA NA NA NA 9q34.11 NA NA NA NA rs2277196 0.63 0.63 0.579 0.640176 0.6103 0.8006 0.6196 0.5295 0.6697 0.62 0.78 0.65 0.48 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238312 NA NA 0.602766 0.549133 NA 0.645 NA 2.786934 1373 9 33047398 33047398 T C intronic SMU1 NA NA NA intronic ENSG00000122692 NA NA NA NA NA 9p21.1 NA NA NA NA rs2274767 0.42 0.42 0.419 0.387979 0.4145 0.2867 0.4107 0.5272 0.2607 0.42 0.31 0.42 0.54 0.3848 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635561 NA NA 0.413837 0.483659 NA 0.507 NA 2.786863 1373 11 119185347 119185347 G A intronic MCAM NA NA NA intronic ENSG00000076706 NA NA NA NA NA 11q23.3 NA NA NA NA rs6589732 0.32 0.32 0.298 0.283347 0.4125 0.127 0.4323 0.298 0.1861 0.41 0.16 0.44 0.29 0.372 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759223 NA NA 0.428987 0.307412 NA 0.261 NA 2.786513 1373 10 116593175 116593175 C T intronic FAM160B1 NA NA NA UTR3 ENSG00000151553 ENST00000369246:c.*2C>T NA NA NA NA 10q25.3 NA NA NA NA rs11196939 0.35 0.35 0.356 0.349441 0.4662 0.2331 0.3487 0.2549 0.4775 0.48 0.26 0.37 0.25 0.4282 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.863872 1.863872 NA 0.48593 0.303223 ID=COSN163769;OCCURENCE=1(NS) 0.471 NA 2.7863367 1373 9 137708960 137708960 A C intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs10776910 0.46 0.46 0.454 0.461661 0.3718 0.4534 0.4265 0.6573 0.3231 0.39 0.42 0.41 0.65 0.4211 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712153 NA NA 0.421512 0.623695 NA 0.601 NA 2.785588 1373 2 69201894 69201894 C T intronic GKN1 NA NA NA intronic ENSG00000169605 NA NA NA NA NA 2p13.3 NA NA NA NA rs4417751 0.69 0.69 0.685 0.660543 0.6113 0.7212 0.6441 0.6989 0.6084 0.61 0.8 0.68 0.68 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873971 NA NA 0.603394 0.690029 NA 0.58 NA 2.785306 1374 1 111661413 111661413 T C intronic DRAM2 NA NA NA intronic ENSG00000156171 NA NA NA NA NA 1p13.3 NA NA NA NA rs325916 0.43 0.43 0.456 0.476438 0.3827 0.2827 0.4193 0.6407 0.591 0.37 0.3 0.43 0.66 0.4532 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368104 NA NA 0.379651 0.596093 NA 0.558 NA 2.784449 1374 6 52657552 52657552 C T intronic GSTA1 NA NA NA intronic ENSG00000243955 NA NA NA NA NA 6p12.2 NA NA NA NA rs4715326 0.7 0.7 0.689 0.704872 0.5755 0.8631 0.7089 0.7156 0.6575 0.57 0.86 0.69 0.71 0.6405 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057421 NA NA NA NA NA 0.681 NA 2.784 1374 11 4185463 4185463 T C intergenic RRM1,LOC100506082 dist=25357;dist=22919 NA NA intergenic ENSG00000231548,ENSG00000254480 dist=16938;dist=22907 NA NA NA NA 11p15.4 NA NA NA NA rs979941 0.43 0.43 0.436 0.454273 0.5497 0.3075 0.3804 0.4266 0.5971 0.56 0.3 0.38 0.45 NA 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656052 NA NA NA NA NA 0.312 NA 2.7836334 1374 9 137708973 137708973 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs10858283 0.46 0.46 0.444 0.461062 0.3718 0.4534 0.4251 0.6573 0.3211 0.39 0.42 0.41 0.65 0.4247 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277684 NA NA 0.42 0.624659 ID=COSN168704;OCCURENCE=1(large_intestine) 0.601 NA 2.7835 1374 1 32134491 32134491 C G intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2271929 0.5 0.5 0.526 NA NA NA NA NA NA 0.62 0.29 0.54 0.53 0.6013 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169023 NA NA 0.615309 0.574741 NA 0.587 NA 2.783391 1374 5 476530 476530 C G intronic SLC9A3 NA NA NA ncRNA_exonic ENSG00000225138 NA NA NA NA NA 5p15.33 NA NA Name=8 NA rs2244240 0.7 0.7 0.748 0.751198 0.8579 0.5387 0.732 0.8669 0.7178 0.8 0.48 0.73 0.79 0.8226 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639847 NA NA 0.870349 0.871539 NA 0.783 NA 2.7824843 1374 14 78365612 78365612 C T intronic ADCK1 NA NA NA intronic ENSG00000063761 NA NA NA NA NA 14q24.3 NA NA NA NA rs2287650 0.37 0.37 0.354 0.372204 0.3777 0.4544 0.5504 0.1785 0.4172 0.38 0.45 0.55 0.15 0.4097 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280703 NA NA 0.430233 0.215615 NA 0.348 NA 2.782367 1374 10 21115332 21115332 T C intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 NA NA NA NA rs1409348 0.53 0.53 0.527 0.558307 0.3867 0.6438 0.366 0.6936 0.6002 0.36 0.66 0.43 0.7 0.4495 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584347 NA NA 0.381512 0.62778 ID=COSN163583;OCCURENCE=1(breast) 0.522 NA 2.782288 1374 19 44422982 44422982 G A intronic ZNF45 NA NA NA ncRNA_intronic ENSG00000267191 NA NA NA NA NA 19q13.31 NA NA NA NA rs423320 0.57 0.57 0.552 0.525359 0.5169 0.7996 0.6499 0.3336 0.4223 0.51 0.82 0.58 0.38 0.5283 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211594 NA NA 0.50593 0.357921 NA 0.5 NA 2.7822033 1374 2 15644401 15644401 C T intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs2287265 0.51 0.51 0.504 0.515974 0.6352 0.2192 0.5663 0.618 0.5256 0.61 0.25 0.59 0.59 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.438557 NA NA 0.582967 0.570809 NA 0.688 NA 2.781833 1374 4 15937731 15937731 T C exonic FGFBP1 NA synonymous SNV FGFBP1:NM_005130:exon3:c.A525G:p.K175K exonic ENSG00000137440 NA synonymous SNV ENSG00000137440:ENST00000259988:exon2:c.A525G:p.K175K,ENSG00000137440:ENST00000382333:exon3:c.A525G:p.K175K NA NA 4p15.32 NA NA NA NA rs2072313 0.91 0.91 0.913 0.914936 0.9672 0.8204 0.9611 0.8812 0.9714 0.97 0.83 0.96 0.89 0.954 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142943 NA NA 0.964186 0.902406 NA 0.949 NA 2.7812806 1374 3 78676422 78676422 G A intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs7614084 0.35 0.35 0.31 0.33726 0.4165 0.2629 0.4496 0.2436 0.3793 0.41 0.26 0.46 0.27 0.3869 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287004 NA NA 0.415337 0.25999 NA 0.326 NA 2.781263 1374 7 142149160 142149160 T G intergenic LOC730441,MTRNR2L6 dist=177092;dist=224971 NA NA exonic ENSG00000211725 NA nonsynonymous SNV ENSG00000211725:ENST00000390372:exon2:c.A111C:p.Q37H NA NA 7q34 NA NA NA NA rs17217 0.57 0.57 0.538 0.669329 0.7028 0.7986 0.5634 0.6286 0.6319 0.59 0.7 0.45 0.48 0.6419 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.101931 2.101931 0.04 0.708323 0.647528 NA 0.609 NA 2.7803104 1374 19 40046086 40046086 T C intergenic EID2,LGALS13 dist=15248;dist=47083 NA NA downstream ENSG00000269588 NA NA NA NA NA 19q13.2 NA NA NA NA rs8108097 0.77 0.77 0.788 0.772764 0.7197 0.8373 0.6354 0.885 0.7065 0.73 0.81 0.69 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561313 NA NA NA NA NA 0.696 NA 2.7803 1374 19 17311442 17311442 C G intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA NA NA NA rs2305766 0.56 0.56 0.501 0.576078 0.3509 0.746 0.6614 0.584 0.5613 0.36 0.78 0.62 0.57 0.5106 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117976 NA NA 0.358993 0.523936 NA 0.63 NA 2.779507 1374 17 61562774 61562774 T C intronic ACE NA NA NA UTR3 ENSG00000159640 ENST00000582678:c.*1498T>C NA NA NA NA 17q23.3 NA NA NA NA rs4321 0.52 0.52 0.456 0.529752 0.4235 0.6756 0.5692 0.4107 0.6217 0.43 0.69 0.56 0.43 0.5098 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263426 NA NA 0.453953 0.424648 NA 0.529 NA 2.7794137 1374 20 31383353 31383353 T G intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs910085 0.56 0.56 0.512 0.584864 0.3529 0.9177 0.598 0.4713 0.6247 0.37 0.91 0.56 0.43 0.4836 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836588 NA NA 0.384186 0.439401 NA 0.406 NA 2.779314 1374 19 10568519 10568519 T G intronic PDE4A NA NA NA intronic ENSG00000065989 NA NA NA NA NA 19p13.2 NA NA NA NA rs4804134 0.49 0.49 0.497 0.523562 0.3837 0.5575 0.317 0.7239 0.5082 0.38 0.54 0.37 0.71 0.4407 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911139 NA NA 0.396395 0.682478 NA 0.37 NA 2.779205 1374 11 110103924 110103924 A C intronic RDX NA NA NA intronic ENSG00000137710 NA NA NA NA NA 11q22.3 NA NA NA NA rs10450619 0.44 0.44 0.406 0.43111 0.3946 0.6389 0.4207 0.3268 0.4029 0.42 0.6 0.41 0.3 0.4177 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45238 NA NA 0.408562 0.348478 ID=COSN164048;OCCURENCE=1(breast) 0.348 NA 2.779138 1374 11 92577070 92577070 T C intronic FAT3 NA NA NA intronic ENSG00000165323 NA NA NA NA NA 11q14.3 NA NA NA NA rs4753419 0.4 0.4 0.386 0.386182 0.4105 0.4474 0.4164 0.298 0.3957 0.4 0.47 0.41 0.31 0.4126 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.149895 NA NA 0.39778 0.31126 NA 0.406 NA 2.77912 1374 8 97321898 97321898 T A intronic PTDSS1 NA NA NA intronic ENSG00000156471 NA NA NA NA NA 8q22.1 NA NA NA NA rs961075 0.4 0.4 0.388 0.410942 0.3956 0.3085 0.3386 0.5726 0.365 0.41 0.31 0.33 0.54 0.4141 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039082 NA NA 0.411279 0.558103 NA 0.413 NA 2.779021 1374 9 139982868 139982868 C T intronic MAN1B1 NA NA NA intronic ENSG00000177239 NA NA NA NA NA 9q34.3 NA NA NA NA rs3750518 0.48 0.48 0.456 0.487021 0.3986 0.6538 0.4424 0.4758 0.453 0.4 0.66 0.45 0.42 0.432 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429274 NA NA 0.390507 0.453767 NA 0.435 NA 2.778893 1374 1 233490543 233490543 G A intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA NA NA rs2049182 0.5 0.5 0.343 0.510982 0.4095 0.5595 0.6153 0.5182 0.4816 0.41 0.55 0.58 0.53 0.4392 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501891 NA NA 0.372412 0.484793 NA 0.522 NA 2.778888 1374 18 7034448 7034448 G A intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs566825 0.4 0.4 0.41 0.402356 0.4036 0.131 0.3905 0.6944 0.2945 0.41 0.16 0.36 0.7 0.4126 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66219 NA NA 0.405 0.635951 NA 0.413 NA 2.7788 1374 8 41519248 41519248 T C intronic ANK1 NA NA NA ncRNA_intronic ENSG00000253389 NA NA NA NA NA 8p11.21 NA NA NA NA rs516946 0.8 0.8 0.792 0.804313 0.7694 0.8552 0.7939 0.7935 0.8098 0.79 0.85 0.75 0.81 0.7853 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824394 NA 0 NA NA NA 0.732 NA 2.7786333 1374 19 15770020 15770020 C T intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs2460819 0.38 0.38 0.114 0.405152 0.4304 0.3274 0.3444 0.3389 0.592 0.43 0.33 0.36 0.36 0.6523 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54795 NA NA 0.138782 0.105765 NA NA NA 2.778518 1374 4 39122697 39122697 C T UTR3 KLHL5 NM_001007075:c.*11C>T,NM_001171654:c.*11C>T,NM_015990:c.*11C>T,NM_199039:c.*11C>T NA NA ncRNA_UTR3 ENSG00000109790 NA NA NA NA NA 4p14 NA NA NA NA rs3733275 0.54 0.54 0.527 0.492612 0.5775 0.495 0.5951 0.3411 0.5348 0.59 0.52 0.62 0.41 0.5587 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.33516 NA NA 0.585698 0.390831 NA 0.529 NA 2.778102 1374 14 23020638 23020638 T C intergenic OR4E2,DAD1 dist=886400;dist=13169 NA NA UTR3 ENSG00000229164 ENST00000478163:c.*90T>C NA NA NA NA 14q11.2 NA NA NA NA rs15795 0.29 0.29 0.284 0.298922 0.3688 0.2113 0.2248 0.3548 0.2945 0.36 0.18 0.22 0.39 0.3228 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383679 NA NA 0.363823 0.357579 NA 0.29 NA 2.7779104 1374 5 7927649 7927649 C T intergenic MTRR,LOC729506 dist=26414;dist=405947 NA NA intergenic ENSG00000251168,ENSG00000199773 dist=2138;dist=52610 NA NA NA NA 5p15.31 NA NA NA NA rs2199339 0.49 0.49 0.454 0.507987 0.5557 0.503 0.4755 0.3638 0.682 0.55 0.48 0.52 0.38 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680277 NA NA NA NA NA 0.471 NA 2.7776334 1374 5 7927764 7927764 G A intergenic MTRR,LOC729506 dist=26529;dist=405832 NA NA intergenic ENSG00000251168,ENSG00000199773 dist=2253;dist=52495 NA NA NA NA 5p15.31 NA NA NA NA rs2199338 0.49 0.49 0.474 0.507788 0.5557 0.503 0.4741 0.3638 0.682 0.55 0.48 0.52 0.38 NA 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879591 NA NA NA NA NA 0.471 NA 2.7776334 1374 13 111077197 111077197 G A exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon5:c.G297A:p.T99T exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon5:c.G297A:p.T99T,ENSG00000134871:ENST00000400163:exon5:c.G297A:p.T99T NA NA 13q34 NA NA NA NA rs4238272 0.95 0.95 0.95 0.942692 0.9632 1 0.9683 0.8427 0.9796 0.97 1 0.96 0.84 0.9614 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.045767 NA NA 0.964561 0.865531 NA 0.906 NA 2.7775056 1374 3 75571172 75571172 T C intergenic FAM86DP,MIR1324 dist=86906;dist=108742 NA NA downstream ENSG00000243794 NA NA NA NA NA 3p12.3 NA NA NA NA rs1703190 0.54 0.54 0.543 0.601038 0.7227 0.7034 0.6787 0.4372 0.5368 0.6 0.59 0.6 0.35 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.3773 NA NA NA NA NA 0.036 NA 2.7773 1374 6 74432923 74432923 C T intronic CD109 NA NA NA intronic ENSG00000156535 NA NA NA NA NA 6q13 NA NA NA NA rs56093139 0.25 0.25 0.201 0.254393 0.4245 0.0992 0.2911 0.121 0.3937 0.43 0.1 0.33 0.1 0.3688 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53623 NA NA 0.430051 0.176284 NA 0.217 NA 2.776649 1374 21 22696837 22696837 C G intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA Name=CTCF_(SC-5916),Rad21,CTCF NA NA rs232467 0.63 0.63 0.612 0.621006 0.7406 0.631 0.6095 0.5023 0.6564 0.74 0.59 0.63 0.52 0.7073 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796145 NA NA 0.775624 0.565183 NA 0.688 NA 2.776476 1374 16 8992342 8992342 G A intronic USP7 NA NA NA intronic ENSG00000187555 NA NA NA NA NA 16p13.2 NA NA NA NA rs2304465 0.39 0.39 0.353 0.390176 0.4135 0.2956 0.4193 0.3396 0.5112 0.42 0.3 0.47 0.37 0.3976 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400586 NA NA 0.412442 0.314806 NA 0.391 NA 2.776458 1374 17 39261608 39261608 G A upstream KRTAP4-9 NA NA NA UTR5 ENSG00000212722 ENST00000391415:c.-33G>A NA NA NA NA 17q21.2 NA NA NA NA rs349791 0.49 0.49 0.34 0.491214 0.669 0.2619 0.5043 0.5015 0.5215 0.64 0.25 0.52 0.52 0.5547 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157315 NA NA NA NA NA 0.196 NA 2.7763 1374 20 47739814 47739814 C T intronic STAU1 NA NA NA intronic ENSG00000124214 NA NA NA NA NA 20q13.13 NA NA NA NA rs2295714 0.37 0.37 0.354 0.370407 0.4274 0.3294 0.3761 0.354 0.3722 0.43 0.29 0.4 0.33 0.3948 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134186 NA NA 0.401628 0.389469 NA 0.333 NA 2.776172 1374 10 124399985 124399985 G T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2261660 0.56 0.56 0.573 0.586062 0.3698 0.6657 0.4582 0.829 0.4888 0.36 0.66 0.46 0.82 0.4735 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657938 NA NA 0.380534 0.783393 NA 0.703 NA 2.776166 1374 3 14768554 14768554 G A intronic C3orf20 NA NA NA intronic ENSG00000131379 NA NA NA NA NA 3p25.1 NA NA NA NA rs17255247 0.37 0.37 0.367 0.338059 0.4165 0.3175 0.4424 0.2821 0.2802 0.42 0.31 0.42 0.3 0.3827 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204578 NA NA 0.425465 0.33409 NA 0.406 NA 2.775335 1375 1 41466803 41466803 G A intronic CTPS1 NA NA NA intronic ENSG00000171793 NA NA NA NA NA 1p34.2 NA NA NA NA rs12718433 0.36 0.36 0.292 0.333067 0.4066 0.4405 0.5389 0.1014 0.3139 0.4 0.43 0.54 0.1 0.4048 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925081 NA NA 0.413837 0.175897 NA 0.312 NA 2.774763 1375 4 109969337 109969337 G T intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs3108954 0.59 0.59 0.553 0.583466 0.3976 0.6587 0.5821 0.7595 0.4601 0.41 0.69 0.54 0.77 0.4537 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.545395 NA NA 0.374421 0.674814 NA 0.529 NA 2.774279 1375 5 79024734 79024734 A G intronic CMYA5 NA NA NA intronic ENSG00000164309 NA NA NA NA NA 5q14.1 NA NA NA NA rs1541813 0.55 0.55 0.587 0.549521 0.3817 0.6012 0.3876 0.8139 0.4264 0.38 0.62 0.39 0.83 0.4637 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.777666 NA NA 0.381029 0.749447 NA 0.594 NA 2.773571 1375 19 15770018 15770018 T C intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs2460818 0.39 0.39 0.247 0.40615 0.4314 0.3274 0.3444 0.3411 0.593 0.45 0.34 0.37 0.39 0.654 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337778 NA NA 0.141094 0.107545 NA NA NA 2.773506 1375 19 41748753 41748753 T C intronic AXL NA NA NA intronic ENSG00000167601 NA NA NA NA NA 19q13.2 NA NA NA NA rs2304234 0.42 0.42 0.422 0.463259 0.4066 0.3591 0.3746 0.674 0.407 0.41 0.33 0.39 0.59 0.4109 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727507 NA NA 0.409651 0.602814 NA 0.522 NA 2.772849 1375 6 29897061 29897061 C T intergenic HCG4B,HLA-A dist=3633;dist=13186 NA NA downstream ENSG00000230795 NA NA NA NA NA 6p22.1 NA NA NA NA rs2517751 0.69 0.69 0.727 0.727636 0.7276 0.6319 0.7911 0.7632 0.7331 0.71 0.62 0.72 0.73 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012146 NA NA NA NA NA 0.667 NA 2.7724 1375 19 8551094 8551094 T C exonic HNRNPM NA synonymous SNV HNRNPM:NM_005968:exon14:c.T1782C:p.P594P,HNRNPM:NM_031203:exon15:c.T1665C:p.P555P exonic ENSG00000099783 NA synonymous SNV ENSG00000099783:ENST00000325495:exon14:c.T1782C:p.P594P,ENSG00000099783:ENST00000348943:exon15:c.T1665C:p.P555P NA NA 19p13.2 NA NA NA NA rs2230647 0.89 0.89 0.852 0.867612 0.9761 0.9812 0.9424 0.5756 0.9806 0.98 0.99 0.96 0.57 0.945 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.632793 NA NA 0.973641 0.623066 NA 0.754 NA 2.7719256 1375 17 1756351 1756351 A G intronic RPA1 NA NA NA intronic ENSG00000132383 NA NA NA NA NA 17p13.3 NA NA NA NA rs2287321 0.45 0.45 0.415 0.45028 0.4056 0.5278 0.513 0.3903 0.453 0.4 0.55 0.49 0.39 0.4367 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.069736 NA NA 0.387209 0.393327 NA 0.486 NA 2.770491 1375 22 51117137 51117137 G A intronic SHANK3 NA NA NA intronic ENSG00000251322 NA NA NA NA NA 22q13.33 NA NA NA NA rs9616914 0.27 0.27 0.282 0.250998 0.4314 0.0595 0.2507 0.2262 0.2965 0.44 0.08 0.3 0.2 0.3574 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.905687 NA NA 0.441094 0.235145 NA 0.217 NA 2.770106 1375 22 50487567 50487567 T C intergenic IL17REL,MLC1 dist=36512;dist=10253 NA NA intronic ENSG00000138892 NA NA NA NA NA 22q13.33 NA NA NA NA rs137911 0.86 0.86 0.857 0.860423 0.8966 0.9187 0.7565 0.7723 0.956 0.9 0.92 0.78 0.78 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133126 NA NA NA NA NA 0.79 NA 2.7700667 1375 2 128396807 128396807 A G UTR3 LIMS2 NM_017980:c.*49T>C,NM_001136037:c.*49T>C,NM_001256542:c.*49T>C,NM_001161404:c.*49T>C,NM_001161403:c.*49T>C NA NA UTR3 ENSG00000072163 ENST00000426981:c.*49T>C,ENST00000324938:c.*49T>C,ENST00000409754:c.*49T>C,ENST00000409286:c.*49T>C,ENST00000410011:c.*49T>C,ENST00000409808:c.*49T>C,ENST00000355119:c.*49T>C,ENST00000409455:c.*49T>C,ENST00000410038:c.*49T>C,ENST00000545738:c.*49T>C,ENST00000413578:c.*285T>C,ENST00000409254:c.*49T>C NA NA NA NA 2q14.3 NA NA NA NA rs891515 0.52 0.52 0.549 0.584665 0.5268 0.254 0.4438 0.8563 0.7178 0.53 0.29 0.43 0.84 0.5354 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577367 NA NA 0.501163 0.793236 NA 0.674 NA 2.7699704 1375 20 47892270 47892270 T C intronic ZNFX1 NA NA NA intronic ENSG00000124201 NA NA NA NA NA 20q13.13 NA NA Name=30 NA rs238191 0.64 0.64 0.644 0.601238 0.7634 0.5278 0.6412 0.5106 0.6043 0.75 0.52 0.67 0.6 0.6969 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618052 NA NA 0.769767 0.537676 NA 0.616 NA 2.769933 1375 19 36045772 36045772 A G intronic ATP4A NA NA NA intronic ENSG00000105675 NA NA NA NA NA 19q13.12 NA NA NA NA rs2733739 0.61 0.61 0.563 0.591254 0.6153 0.6855 0.6729 0.4024 0.6667 0.62 0.72 0.67 0.44 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012465 NA NA 0.615018 0.467466 NA 0.507 NA 2.769682 1375 1 36602943 36602943 C T intronic TRAPPC3 NA NA NA intronic ENSG00000054116 NA NA NA NA NA 1p34.3 NA NA Name=3 NA rs2231318 0.77 0.77 0.783 0.750399 0.7406 0.7063 0.8098 0.8533 0.6247 0.73 0.73 0.83 0.86 0.7423 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.439126 NA NA 0.747558 0.818656 NA 0.841 NA 2.769542 1375 5 150917545 150917545 G A intronic FAT2 NA NA NA intronic ENSG00000086570 NA NA NA NA NA 5q33.1 NA NA NA NA rs3816007 0.39 0.39 0.382 0.386581 0.4344 0.2817 0.3357 0.4939 0.3364 0.43 0.27 0.38 0.5 0.3907 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.703772 NA NA 0.405465 0.470949 NA 0.435 NA 2.769435 1375 1 19858807 19858807 T C intergenic CAPZB,MINOS1 dist=46741;dist=64664 NA NA upstream ENSG00000239027 NA NA NA NA NA 1p36.13 NA NA NA NA rs4350219 0.68 0.68 0.669 0.702276 0.7306 0.4563 0.745 0.8253 0.7301 0.74 0.44 0.73 0.84 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02723 NA NA NA NA NA 0.746 NA 2.7694 1375 19 1043864 1043864 G C intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA NA NA NA rs4622634 0.38 0.38 0.307 0.358626 0.3797 0.4246 0.6081 0.1573 0.364 0.37 0.46 0.57 0.14 0.4302 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836468 NA NA 0.420814 0.211076 NA 0.413 NA 2.769286 1375 3 169550759 169550759 G A intronic LRRIQ4 NA NA NA intronic ENSG00000188306 NA NA NA NA NA 3q26.2 NA NA NA NA rs12486767 0.54 0.54 0.514 0.557508 0.3897 0.752 0.6037 0.5492 0.5082 0.39 0.76 0.54 0.51 0.4734 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.631164 NA NA 0.368183 0.49782 NA 0.442 NA 2.768717 1375 22 44559842 44559842 A G intronic PARVB NA NA NA intronic ENSG00000188677 NA NA NA NA NA 22q13.31 NA NA NA NA rs139081 0.41 0.41 0.405 0.461062 0.4135 0.3264 0.4424 0.5424 0.5521 0.41 0.29 0.42 0.55 0.4194 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149059 NA NA 0.398488 0.512256 NA 0.312 NA 2.768612 1375 6 70963156 70963156 T G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs701690 0.38 0.38 0.406 0.369209 0.4284 0.2927 0.2752 0.5113 0.2618 0.42 0.27 0.32 0.52 0.3882 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684389 NA NA 0.415116 0.479346 NA 0.507 NA 2.768284 1375 22 50485793 50485793 T C intergenic IL17REL,MLC1 dist=34738;dist=12027 NA NA intronic ENSG00000138892 NA NA NA NA NA 22q13.33 NA NA NA NA rs137906 0.85 0.85 0.852 0.86242 0.8986 0.9187 0.7594 0.7769 0.956 0.9 0.92 0.78 0.76 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352883 NA NA NA NA NA 0.841 NA 2.7680667 1375 15 25330550 25330550 T A ncRNA_exonic SNORD116-18 NA NA NA ncRNA_exonic ENSG00000206688 NA NA NA NA NA 15q11.2 NA NA NA NA rs3803328 0.66 0.66 0.667 0.637979 0.6312 0.5536 0.6657 0.8359 0.4448 0.63 0.55 0.69 0.8 0.6257 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077884 NA NA 0.641888 0.812785 NA 0.674 NA 2.7678786 1375 18 7024345 7024345 C T intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs548577 0.44 0.44 0.445 0.44988 0.4076 0.1448 0.4035 0.8646 0.2802 0.42 0.18 0.37 0.85 0.4222 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93339 NA NA 0.402326 0.765093 NA 0.428 NA 2.767874 1375 5 177669413 177669413 T G intronic COL23A1 NA NA NA intronic ENSG00000050767 NA NA NA NA NA 5q35.3 NA NA NA NA rs2241579 0.49 0.49 0.51 0.489816 0.4066 0.621 0.3588 0.5703 0.4243 0.4 0.62 0.33 0.6 0.4283 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044303 NA NA 0.397847 0.52248 NA 0.428 NA 2.767253 1375 3 169566090 169566090 A G intronic LRRC31 NA NA NA intronic ENSG00000114248 NA NA NA NA NA 3q26.2 NA NA NA NA rs9290375 0.54 0.54 0.516 0.558906 0.3897 0.754 0.6037 0.5514 0.5102 0.39 0.76 0.54 0.52 0.4734 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888228 NA NA 0.369823 0.504455 NA 0.449 NA 2.767077 1375 22 44323074 44323074 G A intronic PNPLA3 NA NA NA intronic ENSG00000100344 NA NA NA NA NA 22q13.31 NA NA NA NA rs139047 0.34 0.34 0.347 0.317292 0.4245 0.4147 0.2507 0.1778 0.3425 0.43 0.39 0.25 0.21 0.3862 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502608 NA NA 0.422326 0.228325 NA 0.254 NA 2.766974 1375 22 23010943 23010943 G A intergenic GGTLC2,MIR650 dist=20575;dist=154327 NA NA intronic ENSG00000211658 NA NA NA NA NA 22q11.22 NA NA NA NA rs406876 0.43 0.43 0.363 0.394569 0.4513 0.496 0.6441 0.174 0.3528 0.44 0.52 0.6 0.2 0.4484 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108986 NA NA NA NA NA 0.348 NA 2.7669667 1375 18 5960165 5960165 G A intronic L3MBTL4 NA NA NA ncRNA_intronic ENSG00000265487 NA NA NA NA NA 18p11.31 NA NA NA NA rs505559 0.73 0.73 0.755 0.76278 0.5 0.9266 0.5778 0.9629 0.7249 0.51 0.95 0.56 0.94 0.5825 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229765 NA NA 0.483895 0.893716 NA 0.529 NA 2.7669383 1375 20 47845220 47845220 T A intronic DDX27 NA NA NA intronic ENSG00000124228 NA NA NA NA NA 20q13.13 NA NA Name=7 NA rs238165 0.65 0.65 0.642 0.605032 0.7644 0.5268 0.6441 0.5234 0.6043 0.75 0.52 0.67 0.6 0.6995 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159126 NA NA 0.769767 0.55084 NA 0.623 NA 2.766333 1376 20 49191228 49191228 A C intronic PTPN1 NA NA NA ncRNA_exonic ENSG00000232043 NA NA NA NA NA 20q13.13 NA NA NA NA rs1885177 0.5 0.5 0.488 0.511781 0.5149 0.6438 0.5173 0.326 0.6196 0.51 0.67 0.48 0.31 0.528 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097133 NA NA 0.525581 0.33704 NA 0.558 NA 2.7648523 1376 12 124104460 124104460 C G intronic DDX55 NA NA NA intronic ENSG00000111364 NA NA NA NA NA 12q24.31 NA NA NA NA rs7302183 0.38 0.38 0.38 0.426118 0.4026 0.1339 0.3314 0.7148 0.4284 0.4 0.11 0.35 0.68 0.4037 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315035 NA NA 0.428937 0.666213 NA 0.384 NA 2.764763 1376 12 131876810 131876810 A G intergenic LOC116437,SFSWAP dist=179334;dist=318822 NA NA intergenic ENSG00000256484,ENSG00000256209 dist=21206;dist=77046 NA NA NA NA 12q24.33 NA NA NA NA rs61935878 0.54 0.54 0.515 0.522764 0.5686 0.3294 0.5576 0.7133 0.3926 0.57 0.35 0.58 0.67 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.772239 NA NA NA NA NA 0.174 NA 2.7647334 1376 20 2845130 2845130 G A intronic PTPRA,VPS16 NA NA NA intronic ENSG00000132670,ENSG00000215305 NA NA NA NA NA 20p13 NA NA NA NA rs730819 0.44 0.44 0.403 0.438698 0.4175 0.6627 0.3501 0.2239 0.5828 0.43 0.65 0.41 0.24 0.4271 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.197589 NA NA 0.39093 0.248071 NA 0.486 NA 2.76447 1376 11 800486 800486 C T intronic PIDD NA NA NA intronic ENSG00000177595 NA NA NA NA NA 11p15.5 NA NA NA NA rs7117921 0.37 0.37 0.075 0.369209 0.5388 0.2887 0.647 0.2564 0.2331 0.45 0.3 0.56 0.19 0.4849 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.946549 NA NA 0.212707 0.056617 NA NA NA 2.763593 1376 11 116631690 116631690 G A intronic BUD13 NA NA NA intronic ENSG00000137656 NA NA NA NA NA 11q23.3 NA NA NA NA rs3741300 0.33 0.33 0.321 0.277955 0.4254 0.379 0.2435 0.1248 0.2536 0.45 0.34 0.28 0.14 0.3626 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.336612 1.336612 NA 0.448557 0.19264 ID=COSN164054;OCCURENCE=1(breast) 0.399 NA 2.763443 1376 19 10108714 10108714 G A intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs7254800 0.38 0.38 0.365 0.355831 0.4215 0.3185 0.4049 0.4002 0.2321 0.41 0.32 0.4 0.37 0.3895 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.731017 NA NA 0.425814 0.412619 NA 0.37 NA 2.763186 1376 2 38537626 38537626 A C intronic ATL2 NA NA NA intronic ENSG00000119787 NA NA NA NA NA 2p22.2 NA NA NA NA rs2305245 0.44 0.44 0.451 0.490615 0.4076 0.1925 0.3919 0.8238 0.5031 0.41 0.19 0.4 0.82 0.4329 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917493 NA NA 0.396395 0.735361 ID=COSN166071;OCCURENCE=1(breast) 0.442 NA 2.763105 1376 17 40849842 40849842 A G intronic CNTNAP1 NA NA NA ncRNA_intronic ENSG00000267765 NA NA NA NA NA 17q21.2 NA NA NA NA rs1553468 0.56 0.56 0.571 0.614417 0.506 0.503 0.4438 0.8737 0.6115 0.5 0.48 0.44 0.85 0.5459 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.913781 NA NA 0.518372 0.823877 NA 0.63 NA 2.7630613 1376 4 77065518 77065518 T C intronic NUP54 NA NA NA intronic ENSG00000138750 NA NA NA NA NA 4q21.1 NA NA NA NA rs11946345 0.58 0.58 0.568 0.575479 0.3658 0.8958 0.5072 0.5764 0.5082 0.37 0.89 0.49 0.59 0.4812 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.733097 1.733097 NA 0.390233 0.539038 NA 0.428 NA 2.762767 1376 1 16359051 16359051 C A intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs10927892 0.57 0.57 0.104 0.648163 0.5577 0.7659 0.4467 0.7489 0.6268 0.49 0.69 0.44 0.68 0.561 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333482 NA NA 0.118605 0.193827 NA NA NA 2.762695 1376 12 78570914 78570914 G C intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs1020462 0.47 0.47 0.466 0.496406 0.3857 0.5526 0.5749 0.4274 0.59 0.37 0.55 0.57 0.43 0.4618 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319017 NA NA 0.389888 0.391595 NA 0.486 NA 2.762612 1376 3 98491619 98491619 G T intronic ST3GAL6 NA NA NA intronic ENSG00000064225 NA NA NA NA NA 3q12.1 NA NA NA NA rs2334230 0.32 0.32 0.311 0.332468 0.4046 0.1974 0.3415 0.3812 0.3252 0.42 0.15 0.33 0.34 0.3983 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902261 NA NA 0.434767 0.40286 NA 0.355 NA 2.762333 1376 11 72412675 72412675 A G intronic ARAP1 NA NA NA ncRNA_intronic ENSG00000245148 NA NA NA NA NA 11q13.4 NA NA NA NA rs11235574 0.47 0.47 0.442 0.461661 0.5169 0.376 0.4726 0.4584 0.4898 0.51 0.36 0.52 0.48 0.5098 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62209 NA NA 0.545539 0.471591 NA 0.514 NA 2.7610943 1376 22 23029374 23029374 G A intergenic GGTLC2,MIR650 dist=39006;dist=135896 NA NA intronic ENSG00000211659 NA NA NA NA NA 22q11.22 NA NA NA NA rs451369 0.91 0.91 0.9 0.926917 0.9056 0.9276 0.9481 0.9002 0.9693 0.9 0.92 0.93 0.89 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27664 NA NA NA NA NA 0.783 NA 2.7610667 1376 20 2621998 2621998 T C UTR3 TMC2 NM_080751:c.*1T>C NA NA UTR3 ENSG00000149488 ENST00000358864:c.*1T>C NA NA NA NA 20p13 NA NA NA NA rs6050798 0.52 0.52 0.493 0.531949 0.5109 0.5585 0.5346 0.5318 0.5245 0.49 0.56 0.53 0.51 0.5474 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513032 NA NA 0.514186 0.52542 NA 0.428 NA 2.7608474 1376 1 246929483 246929483 A G intronic SCCPDH NA NA NA intronic ENSG00000143653 NA NA NA NA NA 1q44 NA NA NA NA rs12144408 0.3 0.3 0.291 0.297724 0.4225 0.2302 0.3401 0.1067 0.4673 0.42 0.25 0.36 0.15 0.3845 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94362 NA NA 0.432326 0.155924 ID=COSN163505;OCCURENCE=1(NS) 0.42 NA 2.760674 1376 20 13464030 13464030 C A intronic TASP1 NA NA NA intronic ENSG00000089123 NA NA NA NA NA 20p12.1 NA NA NA NA rs2273480 0.34 0.34 0.328 0.309105 0.4215 0.37 0.3631 0.1657 0.2863 0.43 0.37 0.31 0.18 0.3901 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129675 NA NA 0.427907 0.211984 NA 0.268 NA 2.760493 1376 21 43255509 43255509 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839392 0.46 0.46 0.455 0.443291 0.3976 0.5585 0.3228 0.5363 0.3313 0.4 0.56 0.33 0.55 0.4201 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595724 NA NA 0.42186 0.520427 ID=COSN166660;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.486 NA 2.76044 1376 20 238540 238540 C T intronic DEFB132 NA NA NA intronic ENSG00000186458 NA NA NA NA NA 20p13 NA NA NA NA rs416360 0.63 0.63 0.617 0.628594 0.6431 0.6687 0.5533 0.6157 0.6431 0.64 0.65 0.57 0.62 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228031 NA NA 0.59648 0.660405 NA 0.696 NA 2.76042 1376 7 137801413 137801413 A C UTR3 AKR1D1 NM_001190907:c.*30A>C,NM_001190906:c.*5A>C,NM_005989:c.*5A>C NA NA UTR3 ENSG00000122787 ENST00000432161:c.*30A>C,ENST00000411726:c.*5A>C,ENST00000242375:c.*5A>C NA NA NA NA 7q33 NA NA NA NA rs1872929 0.77 0.77 0.767 NA NA NA NA NA NA 0.78 0.71 0.68 0.9 0.781 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344279 NA NA 0.793605 0.878575 NA 0.862 NA 2.7587284 1376 1 233489529 233489529 G A intronic KIAA1804 NA NA NA intronic ENSG00000143674 NA NA NA NA NA 1q42.2 NA NA NA NA rs7549137 0.5 0.5 0.499 0.510383 0.4095 0.5595 0.6153 0.5159 0.4816 0.41 0.55 0.58 0.53 0.4496 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004673 NA NA 0.382442 0.491829 ID=COSN163477;OCCURENCE=1(NS) 0.529 NA 2.758458 1376 8 143957405 143957405 A C intronic CYP11B1 NA NA NA intronic ENSG00000104499,ENSG00000160882 NA NA NA NA NA 8q24.3 NA NA NA NA rs6471570 0.66 0.66 0.655 0.684704 0.5934 0.8512 0.6556 0.6203 0.7147 0.58 0.84 0.6 0.62 0.6483 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097509 NA NA NA NA NA 0.725 NA 2.7583 1376 4 77065264 77065264 C T intronic NUP54 NA NA NA intronic ENSG00000138750 NA NA NA NA NA 4q21.1 NA NA NA NA rs11736522 0.59 0.59 0.585 0.58726 0.3658 0.8958 0.5115 0.6188 0.5082 0.37 0.89 0.5 0.62 0.4856 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212014 NA NA 0.390349 0.578529 NA 0.457 NA 2.758251 1376 5 79354647 79354647 C G intronic THBS4 NA NA NA ncRNA_intronic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs432267 0.56 0.56 0.543 0.571685 0.5527 0.5198 0.5476 0.6536 0.5511 0.54 0.51 0.56 0.64 0.5251 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.061761 NA NA 0.497674 0.631639 NA 0.522 NA 2.7578593 1376 12 4853915 4853915 T G intronic GALNT8 NA NA NA intronic ENSG00000130035 NA NA NA NA NA 12p13.32 NA NA NA NA rs12312983 0.41 0.41 0.381 0.325879 0.4235 0.3621 0.4222 0.233 0.2454 0.43 0.49 0.44 0.24 0.3862 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51703 NA NA 0.432558 0.288697 NA 0.362 NA 2.757742 1376 7 143036318 143036318 G A intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA NA NA NA rs2272253 0.41 0.41 0.439 0.414537 0.4056 0.2768 0.3112 0.5877 0.4049 0.4 0.26 0.36 0.64 0.4108 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179477 NA NA 0.426047 0.562642 NA 0.5 NA 2.757553 1376 7 143036337 143036337 C T intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA NA NA NA rs2272252 0.41 0.41 0.424 0.414337 0.4056 0.2768 0.3098 0.5877 0.4049 0.4 0.26 0.36 0.64 0.4108 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421097 NA NA 0.426163 0.562642 NA 0.5 NA 2.757437 1376 6 70386320 70386320 C T intronic LMBRD1 NA NA NA intronic ENSG00000168216 NA NA NA NA NA 6q13 NA NA NA NA rs3214021 0.41 0.41 0.403 0.409145 0.4354 0.5645 0.4424 0.2042 0.4755 0.43 0.56 0.41 0.2 0.4049 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686033 NA NA 0.402558 0.23695 NA 0.297 NA 2.757142 1376 19 21045864 21045864 C A intergenic ZNF626,ZNF85 dist=201462;dist=60195 NA NA intergenic ENSG00000269373,ENSG00000105750 dist=15641;dist=60164 NA NA NA NA 19p12 NA NA NA NA rs7254763 0.53 0.53 0.49 0.507188 0.5765 0.5437 0.5346 0.3517 0.589 0.61 0.56 0.54 0.38 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520619 NA NA NA NA NA 0.435 NA 2.7568334 1376 9 37020622 37020622 A C intronic PAX5 NA NA NA intronic ENSG00000196092 NA NA NA NA NA 9p13.2 NA NA NA NA rs2297105 0.49 0.49 0.478 0.551717 0.3787 0.5337 0.5173 0.6407 0.6524 0.41 0.51 0.51 0.58 0.4708 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.874228 2.874228 NA 0.393953 0.616659 NA 0.42 NA 2.756547 1376 14 51491956 51491956 T C intronic TRIM9 NA NA NA intronic ENSG00000100505 NA NA NA NA NA 14q22.1 NA NA NA NA rs11848681 0.43 0.43 0.397 0.453275 0.3926 0.5962 0.3631 0.2708 0.6789 0.41 0.6 0.36 0.32 0.4302 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167567 NA NA 0.420814 0.287562 NA 0.406 NA 2.756386 1376 15 41819283 41819283 G A intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2297379 0.33 0.33 0.306 0.324681 0.4344 0.2004 0.4986 0.2042 0.3793 0.44 0.19 0.48 0.22 0.3932 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.66037 NA NA 0.416163 0.225828 NA 0.29 NA 2.756237 1376 6 38820451 38820451 G A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs9369085 0.46 0.46 0.423 0.451677 0.3757 0.6954 0.5865 0.2398 0.4693 0.37 0.67 0.55 0.26 0.4428 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.754969 2.754969 NA 0.425814 0.261462 NA 0.543 NA 2.755686 1377 21 37650235 37650235 T C intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA NA NA rs2070517 0.39 0.39 0.354 0.390176 0.4095 0.3919 0.3761 0.4213 0.3364 0.41 0.36 0.36 0.39 0.4058 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723054 NA NA 0.429767 0.40581 NA 0.268 NA 2.754933 1377 6 129927014 129927014 A G intronic ARHGAP18 NA NA NA intronic ENSG00000146376 NA NA NA NA NA 6q22.33 NA NA NA NA rs3813366 0.5 0.5 0.492 0.503994 0.4115 0.4514 0.5014 0.7118 0.3742 0.41 0.46 0.48 0.72 0.4315 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.299512 NA NA 0.402209 0.682025 NA 0.543 NA 2.754791 1377 14 21821821 21821821 A C intronic SUPT16H NA NA NA intronic ENSG00000092201 NA NA NA NA NA 14q11.2 NA NA NA NA rs3736824 0.34 0.34 0.311 0.351637 0.4115 0.4871 0.2925 0.0741 0.5675 0.4 0.48 0.33 0.09 0.4038 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597895 NA NA 0.430116 0.128461 NA 0.29 NA 2.754584 1377 1 89479758 89479758 T C intronic GBP3 NA NA NA intronic ENSG00000117226 NA NA NA NA NA 1p22.2 NA NA NA NA rs3795543 0.63 0.63 0.614 0.643371 0.7614 0.5188 0.5692 0.6165 0.7393 0.76 0.49 0.65 0.55 0.7133 0.77 . . . . . . . . 1.000 P . . . . . . . . . 0.045 4.25 -1.33 -0.713 -0.319 8.814 0.045365 NA NA 0.771744 0.667726 NA 0.645 NA 2.753556 1377 22 22922878 22922878 T C intergenic LOC648691,POM121L1P dist=13871;dist=51150 NA NA downstream ENSG00000253120 NA NA NA NA NA 22q11.22 NA NA NA NA rs459939 0.78 0.78 0.769 0.777356 0.7465 0.7907 0.8415 0.7587 0.7751 0.75 0.8 0.81 0.8 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316773 NA NA NA NA NA 0.725 NA 2.7535 1377 19 7712585 7712585 T G intronic STXBP2 NA NA NA intronic ENSG00000076944 NA NA NA NA NA 19p13.2 NA NA NA NA rs794073 0.74 0.74 0.724 NA NA NA NA NA NA 0.67 0.84 0.65 0.78 0.6343 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312001 NA NA 0.612558 0.771448 NA 0.783 NA 2.753142 1377 3 41291081 41291081 G A intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs2293304 0.29 0.29 0.282 0.277356 0.4085 0.2569 0.3055 0.0908 0.3957 0.43 0.24 0.33 0.11 0.398 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.634557 NA NA 0.440897 0.142411 NA 0.362 NA 2.752603 1377 14 107083633 107083633 T C intergenic LINC00221,NONE dist=132104;dist=NONE NA NA intronic ENSG00000224373 NA NA NA NA NA 14q32.33 NA NA NA NA rs2516932 NA NA 0.372 0.460863 0.3111 0.3879 0.3545 0.5681 0.6207 NA NA NA NA 0.3399 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.138845 NA NA 0.263464 0.40021 NA 0.014 NA 2.7522027 1377 8 30469805 30469805 A C intronic GTF2E2 NA NA NA intronic ENSG00000197265 NA NA NA NA NA 8p12 NA NA NA NA rs7815625 0.3 0.3 0.299 0.333666 0.4165 0.2788 0.2781 0.1528 0.589 0.44 0.25 0.25 0.17 0.4031 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595071 NA NA 0.428721 0.197231 NA 0.275 NA 2.751679 1377 7 2613042 2613042 G C intronic IQCE NA NA NA intronic ENSG00000106012 NA NA NA NA NA 7p22.3 NA NA Name=4 NA rs2304540 0.68 0.68 0.66 0.693291 0.7575 0.4891 0.7003 0.7753 0.7219 0.77 0.51 0.69 0.76 0.7379 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17014 NA NA 0.753186 0.778478 NA 0.688 NA 2.751414 1377 11 800485 800485 T A intronic PIDD NA NA NA intronic ENSG00000177595 NA NA NA NA NA 11p15.5 NA NA NA NA rs7121646 0.37 0.37 0.08 0.369209 0.5388 0.2887 0.647 0.2564 0.2331 0.45 0.31 0.56 0.19 0.4875 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.455961 NA NA 0.222364 0.061619 NA NA NA 2.751336 1377 4 187129995 187129995 A G intronic CYP4V2 NA NA NA intronic ENSG00000145476 NA NA NA NA NA 4q35.2 NA NA NA NA rs2276917 0.35 0.35 0.324 0.369409 0.4404 0.253 0.3732 0.2564 0.5665 0.44 0.27 0.43 0.24 0.4008 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218316 NA NA 0.407907 0.284158 NA 0.341 NA 2.750893 1377 20 17474690 17474690 T G UTR3 BFSP1 NM_001195:c.*29A>C,NM_001161705:c.*29A>C NA NA UTR3 ENSG00000125864 ENST00000377868:c.*29A>C,ENST00000377873:c.*29A>C,ENST00000544874:c.*29A>C,ENST00000536626:c.*29A>C NA NA NA NA 20p12.1 NA NA NA NA rs6105762 0.49 0.49 0.503 0.506989 0.5358 0.4732 0.5231 0.4297 0.6053 0.52 0.47 0.54 0.44 0.5257 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.517356 NA NA 0.521056 0.44505 NA 0.572 NA 2.7507774 1377 1 19518659 19518659 G A intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs11588032 0.51 0.51 0.469 0.487819 0.4105 0.6885 0.4942 0.447 0.411 0.4 0.72 0.45 0.48 0.4434 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188112 NA NA 0.395392 0.437301 NA 0.5 NA 2.750708 1377 2 119739269 119739269 C T intronic MARCO NA NA NA intronic ENSG00000019169 NA NA NA NA NA 2q14.2 NA NA NA NA rs56216274 0.28 0.28 0.285 0.239816 0.4612 0.1677 0.2939 0.1029 0.2331 0.45 0.16 0.34 0.13 0.3514 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335555 1.335555 NA 0.436729 0.162875 NA 0.326 NA 2.750671 1377 5 151239306 151239306 T C intronic GLRA1 NA NA NA intronic ENSG00000145888 NA NA NA NA NA 5q33.1 NA NA NA NA rs6870491 0.4 0.4 0.394 0.450679 0.4205 0.3304 0.4035 0.5703 0.4775 0.42 0.3 0.37 0.51 0.4137 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562422 NA NA 0.415349 0.535179 NA 0.428 NA 2.750451 1377 17 8050737 8050737 G C intronic PER1 NA NA NA intronic ENSG00000179094 NA NA NA NA NA 17p13.1 NA NA NA NA rs885747 0.35 0.35 0.349 0.345847 0.4414 0.1171 0.2911 0.5552 0.2393 0.45 0.11 0.34 0.5 0.3799 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.112683 NA NA 0.42907 0.550182 NA 0.464 NA 2.74963 1377 19 33635887 33635887 T G intronic WDR88 NA NA NA intronic ENSG00000166359 NA NA NA NA NA 19q13.11 NA NA NA NA rs3848599 0.6 0.6 0.614 0.686302 0.3688 0.5933 0.683 0.975 0.7209 0.37 0.59 0.61 0.97 0.5076 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287259 NA NA 0.374186 0.874716 NA 0.616 NA 2.749414 1377 2 25463483 25463483 G A intronic DNMT3A NA NA NA intronic ENSG00000119772 NA NA NA NA NA 2p23.3 NA NA NA NA rs2289195 0.38 0.38 0.328 0.359026 0.4324 0.246 0.5058 0.3616 0.2924 0.44 0.24 0.5 0.38 0.4061 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.635388 1.635388 NA 0.412442 0.379256 NA 0.457 NA 2.749058 1377 3 58516383 58516383 G A intronic ACOX2 NA NA NA intronic ENSG00000168306 NA NA NA NA NA 3p14.3 NA NA NA NA rs4387990 0.24 0.24 0.228 0.222843 0.4304 0.1032 0.3401 0.0242 0.318 0.43 0.09 0.37 0.04 0.3681 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293172 NA NA 0.45314 0.091693 NA 0.283 NA 2.74836 1377 17 36047417 36047417 A G intronic HNF1B NA NA NA intronic ENSG00000108753 NA NA NA NA NA 17q12 NA NA NA NA rs3110641 0.67 0.67 0.647 0.654952 0.7445 0.7659 0.7795 0.4145 0.6851 0.76 0.76 0.73 0.4 0.7331 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20231 NA NA 0.774186 0.469814 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=Familial_hypoplastic\x2c_glomerulocystic_kidney;CLNREVSTAT=single;CLNACC=RCV000030524.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0431693:137920:253864004 2.748214 1377 20 44526783 44526783 G A intronic CTSA NA NA NA intronic ENSG00000064601 NA NA NA NA NA 20q13.12 NA NA NA NA rs7270170 0.24 0.24 0.212 0.223642 0.4404 0.0327 0.3256 0.0628 0.3425 0.45 0.03 0.34 0.08 0.3709 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677926 NA NA 0.440698 0.136632 NA 0.261 NA 2.748002 1377 8 38840591 38840591 C T intronic HTRA4 NA NA NA intronic ENSG00000169495 NA NA NA NA NA 8p11.22 NA NA NA NA rs7814264 0.5 0.5 0.474 0.453874 0.4314 0.749 0.513 0.3109 0.3241 0.44 0.72 0.49 0.33 0.4327 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382792 NA NA 0.388372 0.317749 NA 0.486 NA 2.747528 1377 17 28029938 28029938 T C intronic SSH2 NA NA NA ncRNA_intronic ENSG00000264031 NA NA NA NA NA 17q11.2 NA NA NA NA rs3102560 0.61 0.61 0.617 0.615815 0.502 0.7222 0.5922 0.6505 0.593 0.52 0.73 0.58 0.65 0.5632 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623297 NA NA 0.52093 0.620291 NA 0.725 NA 2.7472033 1377 7 47869751 47869751 C T intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs6463451 0.42 0.42 0.406 0.39996 0.4085 0.626 0.3963 0.2239 0.3988 0.41 0.64 0.37 0.23 0.4106 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258903 NA NA 0.433837 0.258965 NA 0.471 NA 2.747063 1377 12 47761212 47761212 G A intergenic PCED1B,RPAP3 dist=130769;dist=294503 NA NA ncRNA_intronic ENSG00000257924 NA NA NA NA NA 12q13.11 NA NA NA NA rs58616 0.38 0.38 0.363 0.358427 0.4423 0.4911 0.2666 0.1884 0.4305 0.44 0.5 0.27 0.22 0.4041 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656604 NA NA 0.40658 0.219749 NA 0.435 NA 2.74702 1377 19 15648148 15648148 C T intronic CYP4F22 NA NA NA intronic ENSG00000171954 NA NA NA NA NA 19p13.12 NA NA NA NA rs4310987 0.38 0.38 0.369 0.357827 0.4254 0.5685 0.3516 0.1044 0.4182 0.44 0.55 0.35 0.13 0.4072 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034201 NA NA 0.421047 0.150704 NA 0.304 NA 2.746353 1377 8 145066004 145066004 C G intronic GRINA NA NA NA intronic ENSG00000178685,ENSG00000178719 NA NA NA NA NA 8q24.3 NA NA NA NA rs67714660 0.38 0.38 0.415 0.392173 0.4304 0.1409 0.2781 0.6112 0.3967 0.42 0.15 0.32 0.62 0.399 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.175478 NA NA 0.424302 0.598048 ID=COSN168455;OCCURENCE=1(large_intestine),1(endometrium) 0.428 NA 2.746298 1377 13 28610183 28610183 A G intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA Score=395;Name=lod=54 NA 13q12.2 NA NA NA NA rs2491231 0.62 0.62 0.565 0.563299 0.7724 0.7351 0.7161 0.1944 0.5613 0.78 0.7 0.7 0.21 0.6993 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06664 NA NA 0.782093 0.29301 NA 0.507 NA 2.746207 1377 6 38828453 38828453 A T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs6458073 0.49 0.49 0.447 0.485623 0.3767 0.6944 0.6037 0.3608 0.4673 0.38 0.67 0.56 0.39 0.4535 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256518 NA NA 0.424144 0.354157 NA 0.565 NA 2.745656 1377 20 31383530 31383530 C T intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs875041 0.63 0.63 0.594 0.658546 0.3598 0.9177 0.6167 0.733 0.6278 0.38 0.91 0.58 0.72 0.5069 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172397 NA NA 0.387674 0.662052 NA 0.493 NA 2.745626 1378 12 25242776 25242776 C T intronic LRMP NA NA NA intronic ENSG00000118308 NA NA NA NA NA 12p12.1 NA NA Name=24 NA rs10743538 0.74 0.74 0.748 0.734026 0.7416 0.9008 0.7608 0.5756 0.7495 0.73 0.87 0.76 0.6 0.7454 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.318265 NA NA 0.768081 0.608548 NA 0.609 NA 2.744919 1378 19 35500919 35500919 T C intronic GRAMD1A NA NA NA intronic ENSG00000089351 NA NA NA NA NA 19q13.12 NA NA NA NA rs11084797 0.45 0.45 0.443 0.463259 0.4254 0.3978 0.4207 0.6203 0.3875 0.42 0.36 0.44 0.62 0.4194 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046384 NA NA 0.410806 0.57918 NA 0.471 NA 2.744394 1378 16 21152073 21152073 C T intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs7202719 0.45 0.45 0.507 0.540335 0.4036 0.7024 0.3948 0.5817 0.5613 0.35 0.62 0.38 0.48 0.4564 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034478 NA NA 0.39593 0.549523 NA NA NA 2.74407 1378 18 12359920 12359920 G A intronic AFG3L2 NA NA NA intronic ENSG00000141385 NA NA NA NA NA 18p11.21 NA Name=c-Jun,TAL1_(SC-12984),Pol2,eGFP-JunD,GATA-1 NA NA rs8097342 0.63 0.63 0.634 0.619609 0.7594 0.6062 0.5706 0.4357 0.773 0.76 0.62 0.6 0.48 0.7177 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325 NA NA 0.778953 0.501135 ID=COSM148400;OCCURENCE=1(stomach) 0.558 NA 2.743947 1378 20 45358145 45358145 T G intronic SLC2A10 NA NA NA intronic ENSG00000197496 NA NA NA NA NA 20q13.12 NA NA NA NA rs2425906 0.43 0.43 0.42 0.378794 0.4304 0.5952 0.4452 0.1823 0.3211 0.44 0.61 0.46 0.17 0.4097 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095957 NA NA 0.416027 0.214934 NA 0.348 NA 2.743873 1378 2 219527005 219527005 C T intronic BCS1L NA NA NA intronic ENSG00000074582 NA NA NA NA NA 2q35 NA NA NA NA rs2303561 0.47 0.47 0.525 0.482827 0.4066 0.1796 0.4107 0.9281 0.3231 0.4 0.21 0.4 0.92 0.428 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43512 NA NA 0.421628 0.836813 NA 0.63 NA 2.743772 1378 8 21827833 21827833 A G intronic XPO7 NA NA NA intronic ENSG00000130227 NA NA NA NA NA 8p21.3 NA NA NA NA rs4871903 0.38 0.38 0.377 0.314696 0.4592 0.4405 0.2723 0.2307 0.18 0.46 0.42 0.29 0.25 0.3726 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971392 NA NA 0.424581 0.279906 NA 0.457 NA 2.743619 1378 2 219532905 219532905 G A intronic RNF25 NA NA NA intronic ENSG00000163481 NA NA NA NA NA 2q35 NA NA NA NA rs2556385 0.47 0.47 0.525 0.482827 0.4066 0.1796 0.4107 0.9281 0.3231 0.4 0.21 0.4 0.92 0.428 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933483 NA NA 0.42186 0.836813 NA NA NA 2.74354 1378 22 31672752 31672752 A C intronic LIMK2 NA NA NA intronic ENSG00000182541 NA NA NA Score=606;Name=lod=386 NA 22q12.2 NA NA NA NA rs5997933 0.81 0.81 0.84 0.840855 0.7266 0.876 0.7435 0.972 0.8139 0.71 0.85 0.76 0.95 0.7771 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018374 NA NA 0.752761 0.937788 NA 0.572 NA 2.743539 1378 2 219532903 219532903 C T intronic RNF25 NA NA NA intronic ENSG00000163481 NA NA NA NA NA 2q35 NA NA NA NA rs2556384 0.47 0.47 0.524 0.482827 0.4066 0.1796 0.4107 0.9281 0.3231 0.4 0.21 0.4 0.92 0.4281 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.787251 NA NA 0.42186 0.836813 NA NA NA 2.74344 1378 19 17691751 17691751 C T intronic COLGALT1 NA NA NA intronic ENSG00000130309 NA NA NA NA NA 19p13.11 NA NA NA NA rs891184 0.33 0.33 0.307 0.323682 0.4284 0.3651 0.3069 0.1793 0.3804 0.43 0.31 0.32 0.19 0.396 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755028 NA NA 0.432326 0.210395 NA 0.341 NA 2.743274 1378 16 21152074 21152074 A G intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs7202568 0.44 0.44 0.503 0.540335 0.4036 0.7024 0.3948 0.5817 0.5613 0.34 0.6 0.38 0.46 0.4562 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447723 NA NA 0.397093 0.548841 NA NA NA 2.743107 1378 3 9768336 9768336 C G intronic CPNE9 NA NA NA intronic ENSG00000144550 NA NA NA NA NA 3p25.3 NA NA NA NA rs3868893 0.48 0.48 0.46 0.507987 0.3976 0.502 0.5115 0.5802 0.5276 0.41 0.5 0.49 0.56 0.4548 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.319664 1.319664 NA 0.404509 0.553617 NA 0.413 NA 2.743091 1378 2 207006825 207006825 C A intronic NDUFS1 NA NA NA intronic ENSG00000023228 NA NA NA NA NA 2q33.3 NA NA NA NA rs4147718 0.41 0.41 0.379 0.380591 0.4423 0.2133 0.5432 0.4834 0.2352 0.45 0.21 0.54 0.48 0.403 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.641598 1.641598 NA 0.411683 0.474727 NA 0.275 NA 2.743017 1378 8 17920807 17920807 A G intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs7824644 0.37 0.37 0.364 0.317891 0.6272 0.2044 0.3573 0.1702 0.2883 0.64 0.2 0.36 0.16 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205817 NA NA 0.629793 0.226879 NA 0.391 NA 2.743007 1378 1 32127911 32127911 C T intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2271927 0.51 0.51 0.549 0.472444 0.4016 0.6389 0.4741 0.5182 0.3108 0.42 0.63 0.46 0.52 0.4579 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366808 NA NA 0.398175 0.480155 NA 0.42 NA 2.742325 1378 10 43316170 43316170 A G intronic BMS1 NA NA NA intronic ENSG00000165733 NA NA NA NA NA 10q11.21 NA NA NA NA rs3982211 0.52 0.52 0.466 0.558307 0.4185 0.626 0.4885 0.6271 0.589 0.39 0.62 0.5 0.61 0.461 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412346 NA NA 0.378763 0.561753 NA 0.181 NA 2.741737 1378 2 241726646 241726646 A G intronic KIF1A NA NA NA intronic ENSG00000130294 NA NA NA NA NA 2q37.3 NA NA NA NA rs2288746 0.49 0.49 0.517 0.483227 0.4046 0.4365 0.4107 0.7678 0.2791 0.4 0.44 0.4 0.77 0.423 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3598 NA NA 0.430952 0.708907 NA 0.659 NA 2.741448 1378 11 124955977 124955977 C T intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs3808995 0.62 0.62 0.661 0.646965 0.6332 0.3502 0.536 0.9523 0.6329 0.63 0.37 0.56 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374999 NA NA 0.625393 0.895954 ID=COSN164084;OCCURENCE=1(NS) 0.623 NA 2.741407 1378 21 11124187 11124187 C T intergenic BAGE,NONE dist=25250;dist=NONE NA NA intergenic ENSG00000187172,ENSG00000231962 dist=25207;dist=29650 NA NA NA NA 21p11.1 NA NA NA NA rs12626566 NA NA 0.274 0.593051 0.5924 0.5833 0.585 0.6074 0.59 NA NA NA NA NA 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82701 NA NA NA NA NA 0.094 NA 2.7409334 1378 1 235628908 235628908 G A UTR3 B3GALNT2 NM_001277155:c.*28C>T NA NA UTR3 ENSG00000162885 ENST00000313984:c.*28C>T NA NA NA NA 1q42.3 NA NA NA NA rs1305556 0.65 0.65 0.64 0.673522 0.5129 0.8413 0.7061 0.5726 0.7791 0.52 0.85 0.7 0.59 0.5818 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352528 NA NA 0.498023 0.545847 NA 0.645 NA 2.7406104 1378 12 52404618 52404618 T G intronic GRASP NA NA NA intronic ENSG00000161835 NA NA NA NA NA 12q13.13 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs1298913 0.7 0.7 0.739 0.74361 0.7664 0.6329 0.4467 0.9039 0.8282 0.77 0.6 0.48 0.88 0.7301 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453804 NA NA 0.763953 0.884249 NA 0.848 NA 2.739547 1378 7 87840263 87840263 T C intronic SRI NA NA NA intronic ENSG00000075142 NA NA NA NA NA 7q21.12 NA NA NA NA rs6964163 0.37 0.37 0.36 0.340455 0.4463 0.1756 0.3818 0.4017 0.2894 0.46 0.19 0.4 0.42 0.3863 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398516 NA NA 0.428022 0.405356 NA 0.268 NA 2.739378 1378 2 96012907 96012907 C G intronic KCNIP3 NA NA NA intronic ENSG00000115041 NA NA NA NA NA 2q11.1 NA NA Name=30 NA rs7602807 0.73 0.73 0.749 0.740216 0.7584 0.5933 0.6311 0.9115 0.7188 0.75 0.59 0.68 0.9 0.7529 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142036 NA NA 0.749535 0.877672 NA 0.703 NA 2.739165 1378 5 135015769 135015769 G A intergenic LOC340074,SLC25A48 dist=26145;dist=154596 NA NA intergenic ENSG00000251045,ENSG00000238393 dist=26145;dist=33039 NA NA NA NA 5q31.1 NA NA NA NA rs10077295 0.51 0.51 0.489 0.495208 0.5944 0.5962 0.5231 0.2398 0.6145 0.61 0.59 0.52 0.25 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430367 NA NA NA NA NA 0.486 NA 2.7389334 1378 15 41819322 41819322 C T intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2297380 0.32 0.32 0.316 0.311901 0.4384 0.2798 0.3357 0.121 0.456 0.43 0.32 0.34 0.13 0.39 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118426 NA NA 0.432907 0.177939 NA 0.37 NA 2.738693 1378 20 47361519 47361519 T C intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA NA NA NA rs3746816 0.38 0.38 0.339 0.373802 0.3966 0.3234 0.4726 0.3026 0.4284 0.4 0.34 0.48 0.31 0.4204 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268505 NA NA 0.444419 0.352247 NA 0.5 NA 2.738581 1378 8 28651300 28651300 A C intronic INTS9 NA NA NA intronic ENSG00000104299 NA NA NA NA NA 8p21.1 NA NA NA NA rs2665912 0.3 0.3 NA 0.274161 0.4314 0.1647 0.4236 0.1362 0.3057 0.4 0.18 0.43 0.17 0.3683 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.884256 2.884256 NA 0.461852 0.193233 NA NA NA 2.738448 1378 2 88999476 88999476 G A intronic RPIA NA NA NA intronic ENSG00000153574 NA NA NA NA NA 2p11.2 NA NA NA NA rs1158603 0.49 0.49 0.507 0.46885 0.4155 0.3581 0.4784 0.7474 0.2546 0.43 0.38 0.44 0.74 0.4237 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11861 NA NA 0.423124 0.704655 NA 0.601 NA 2.737676 1378 2 240111477 240111477 A T intronic HDAC4 NA NA NA intronic ENSG00000068024 NA NA NA NA NA 2q37.3 NA NA NA NA rs531993 0.52 0.52 0.509 0.561502 0.6421 0.4216 0.4597 0.5363 0.729 0.64 0.42 0.47 0.48 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010371 NA NA 0.620282 0.534522 NA 0.471 NA 2.737618 1378 2 202352649 202352649 A G intronic ALS2CR11 NA NA NA intronic ENSG00000155754 NA NA NA NA NA 2q33.1 NA NA NA NA rs2714481 0.53 0.53 0.545 0.516174 0.4145 0.5159 0.5014 0.7254 0.3487 0.41 0.52 0.52 0.72 0.4491 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295124 NA NA 0.399068 0.680227 NA 0.551 NA 2.737332 1378 18 47373466 47373466 G A intronic MYO5B NA NA NA ncRNA_intronic ENSG00000267322 NA NA NA NA NA 18q21.1 NA NA NA NA rs3017176 0.5 0.5 0.483 0.476238 0.5388 0.3958 0.621 0.4357 0.4468 0.53 0.45 0.62 0.42 0.5133 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527395 NA NA 0.543908 0.453028 NA 0.478 NA 2.7373253 1378 6 31113276 31113276 G A intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs886400 NA NA NA 0.575879 0.6461 0.3968 0.5706 0.6861 0.5429 NA NA NA NA 0.6048 0.014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14956 NA NA 0.011977 0.014299 NA NA NA 2.737123 1378 1 223951841 223951841 T C intronic CAPN2 NA NA NA intronic ENSG00000162909 NA NA NA NA NA 1q41 NA NA NA NA rs751128 0.43 0.43 0.398 0.429513 0.4284 0.3879 0.4207 0.5197 0.3579 0.43 0.38 0.42 0.51 0.414 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12061 NA NA 0.420581 0.484567 NA 0.413 NA 2.737019 1378 6 148761456 148761456 G C intronic SASH1 NA NA NA intronic ENSG00000111961 NA NA NA NA NA 6q24.3 NA NA NA NA rs2272998 0.41 0.41 0.396 0.46845 0.4076 0.3978 0.4294 0.4107 0.7096 0.41 0.39 0.41 0.41 0.4488 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102837 NA NA 0.406628 0.413073 NA 0.399 NA 2.736972 1378 2 122004596 122004596 C G intronic TFCP2L1 NA NA NA intronic ENSG00000115112 NA NA NA NA NA 2q14.2 NA NA NA NA rs2252862 0.59 0.59 0.603 0.629193 0.4066 0.6478 0.4568 0.8971 0.5992 0.42 0.65 0.43 0.88 0.489 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814776 NA NA 0.367558 0.813663 NA 0.703 NA 2.736842 1378 1 227920061 227920061 T G ncRNA_UTR3 JMJD4 NA NA NA UTR3 ENSG00000081692 ENST00000366758:c.*32A>C,ENST00000438896:c.*32A>C NA NA NA NA 1q42.13 NA NA NA NA rs1060295 0.74 0.74 0.724 0.748802 0.5557 0.7907 0.7104 0.9531 0.6554 0.56 0.79 0.7 0.96 0.6346 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760094 NA NA 0.572992 0.895587 NA 0.659 NA 2.736708 1378 20 10366398 10366398 G A intergenic SNAP25,MKKS dist=78332;dist=19030 NA NA upstream ENSG00000230750 NA NA NA NA NA 20p12.2 NA NA NA NA rs2327293 0.69 0.69 0.678 0.692093 0.7634 0.5248 0.8401 0.6982 0.6779 0.75 0.52 0.81 0.72 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.747876 NA NA NA NA NA 0.449 NA 2.7366 1378 7 2623351 2623351 G A intronic IQCE NA NA NA intronic ENSG00000106012 NA NA NA NA NA 7p22.3 NA NA NA NA rs13242369 0.33 0.33 0.306 0.319289 0.4423 0.1597 0.3213 0.3427 0.3241 0.46 0.15 0.32 0.37 0.3808 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435945 NA NA 0.440453 0.3345 NA 0.333 NA 2.736447 1378 6 94120192 94120192 G A intronic EPHA7 NA NA NA UTR3 ENSG00000135333 ENST00000369297:c.*19C>T NA NA NA NA 6q16.1 NA NA NA NA rs474809 0.64 0.64 0.615 0.632987 0.4553 0.6905 0.5908 0.8366 0.5112 0.48 0.72 0.57 0.83 0.5384 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.055548 NA NA 0.436846 0.785293 NA 0.58 NA 2.7361207 1378 4 3240159 3240159 C T intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs2071704 0.42 0.42 0.391 0.409545 0.4245 0.3234 0.4092 0.5325 0.317 0.44 0.31 0.43 0.51 0.4207 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406147 NA NA 0.41878 0.522569 NA 0.471 NA 2.73602 1378 4 8415982 8415982 C T intronic ACOX3 NA NA NA intronic ENSG00000087008 NA NA NA NA NA 4p16.1 NA NA NA NA rs2245515 0.4 0.4 0.391 0.399561 0.4225 0.4266 0.3631 0.3306 0.4673 0.43 0.41 0.37 0.36 0.4108 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057456 NA NA 0.43093 0.343849 NA 0.486 NA 2.73577 1379 12 26752897 26752897 C T intronic ITPR2 NA NA NA intronic ENSG00000123104 NA NA NA NA NA 12p11.23 NA NA NA NA rs12832680 0.3 0.3 0.298 0.299521 0.4453 0.0486 0.2421 0.3631 0.363 0.44 0.04 0.27 0.4 0.3806 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328896 NA NA 0.441126 0.382678 NA 0.297 NA 2.732974 1379 17 25630388 25630388 T C intronic WSB1 NA NA NA intronic ENSG00000109046 NA NA NA NA NA 17q11.1 NA NA NA NA rs2270761 0.45 0.45 0.458 0.511981 0.3887 0.2609 0.3833 0.8548 0.5256 0.38 0.25 0.39 0.84 0.4537 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54473 NA NA 0.424651 0.791875 NA 0.536 NA 2.732949 1379 20 23753425 23753425 A C intergenic CST1,CST2 dist=21851;dist=50979 NA NA intergenic ENSG00000170373,ENSG00000230908 dist=21520;dist=25353 NA NA NA NA 20p11.21 NA NA NA NA rs6049095 0.55 0.55 0.562 0.553514 0.6004 0.5308 0.3905 0.5946 0.589 0.61 0.51 0.44 0.58 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474348 NA NA NA NA NA NA NA 2.7329334 1379 15 90245298 90245298 G C intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA NA NA rs4306477 0.36 0.36 0.366 0.392971 0.4085 0.2063 0.3617 0.5053 0.4397 0.41 0.22 0.39 0.44 0.4091 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574833 NA NA 0.449639 0.486591 NA 0.522 NA 2.732761 1379 17 21206556 21206556 C T intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs736103 0.52 0.52 0.58 0.210663 0.2197 0.2163 0.2507 0.1271 0.2802 0.52 0.52 0.54 0.5 0.5249 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939031 NA NA 0.523605 0.511802 NA 0.507 NA 2.731795 1379 11 101818728 101818728 A G intronic KIAA1377 NA NA NA intronic ENSG00000110318 NA NA NA NA NA 11q22.1 NA NA NA NA rs11225080 0.42 0.42 0.423 0.376797 0.4354 0.4911 0.3112 0.3351 0.3016 0.42 0.52 0.33 0.36 0.3997 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.547002 1.547002 NA 0.433108 0.359283 NA 0.37 NA 2.731792 1379 16 70818759 70818759 A G intronic VAC14 NA NA NA intronic ENSG00000103043 NA NA NA NA NA 16q22.2 NA NA NA NA rs2271047 0.32 0.32 0.27 0.3127 0.4433 0.3294 0.3401 0.062 0.4806 0.45 0.34 0.36 0.08 0.401 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29373 NA NA 0.42407 0.124886 NA 0.297 NA 2.73163 1379 19 3198777 3198777 A G intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs311621 0.45 0.45 0.416 0.452276 0.4254 0.4891 0.4784 0.4455 0.4325 0.42 0.49 0.46 0.44 0.433 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639658 NA NA 0.41 0.45892 NA 0.413 NA 2.7316 1379 6 29858294 29858294 A G ncRNA_exonic HLA-H NA NA NA downstream ENSG00000206341 NA NA NA NA NA 6p22.1 NA NA NA NA rs3115601 0.69 0.69 0.702 0.721246 0.7416 0.6458 0.7896 0.7489 0.6922 0.71 0.56 0.71 0.79 0.6935 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888022 NA NA NA NA NA 0.616 NA 2.7315666 1379 14 24793647 24793647 T C intronic ADCY4 NA NA NA intronic ENSG00000129467 NA NA NA NA NA 14q12 NA NA NA NA rs6573722 0.51 0.51 0.485 0.538938 0.4076 0.6468 0.5389 0.5287 0.5767 0.42 0.63 0.54 0.51 0.4668 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.837811 1.837811 NA 0.394651 0.492283 NA 0.362 NA 2.730949 1379 3 98540931 98540931 T C intronic DCBLD2 NA NA NA intronic ENSG00000057019 NA NA NA NA NA 3q12.1 NA NA NA NA rs9843214 0.35 0.35 0.35 0.359625 0.4076 0.2262 0.3559 0.4501 0.3282 0.42 0.19 0.34 0.41 0.4194 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956475 NA NA 0.442742 0.4629 NA 0.37 NA 2.730258 1379 19 18218444 18218444 A G intronic MAST3 NA NA NA intronic ENSG00000099308 NA NA NA NA NA 19p13.11 NA NA NA NA rs62123561 0.36 0.36 0.356 0.320687 0.4453 0.3264 0.4121 0.2648 0.1973 0.47 0.31 0.4 0.24 0.3957 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076118 NA NA 0.4289 0.262308 ID=COSN165761;OCCURENCE=1(NS) 0.377 NA 2.7301 1379 5 114728073 114728073 C T intergenic CCDC112,FEM1C dist=95615;dist=128535 NA NA upstream ENSG00000249026 NA NA NA NA NA 5q22.3 NA NA NA NA rs269537 0.78 0.78 0.783 0.794728 0.7704 0.8234 0.7565 0.7602 0.864 0.77 0.82 0.79 0.74 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688427 NA NA NA NA NA 0.696 NA 2.7296 1379 4 149116035 149116035 A G intronic NR3C2 NA NA NA ncRNA_intronic ENSG00000250354 NA NA NA NA NA 4q31.23 NA NA NA NA rs4835500 0.59 0.59 0.584 0.611222 0.5089 0.7698 0.5793 0.5393 0.6728 0.5 0.75 0.57 0.56 0.5758 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026784 NA NA 0.519079 0.552727 NA 0.543 NA 2.7295543 1379 6 24559433 24559433 A G intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA NA NA NA rs3903801 0.26 0.26 0.254 0.246605 0.4344 0.2202 0.3112 0.0378 0.317 0.43 0.2 0.32 0.02 0.3742 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788692 NA NA 0.462209 0.108942 NA 0.203 NA 2.729191 1379 10 103908080 103908080 G A intronic PPRC1 NA NA NA intronic ENSG00000148840 NA NA NA NA NA 10q24.32 NA NA NA NA rs3740405 0.26 0.26 0.227 0.269968 0.4155 0.1409 0.4236 0.0424 0.4519 0.42 0.14 0.4 0.07 0.4045 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01863 NA NA 0.45093 0.107808 NA 0.275 NA 2.72907 1379 X 205373 205373 A G intronic PLCXD1 NA NA NA intronic ENSG00000182378 NA NA NA NA NA Xp22.33 NA NA NA NA rs6644980 0.56 0.56 NA NA NA NA NA NA NA 0.67 0.67 0.58 0.25 0.5996 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.57863 NA NA 0.67237 0.274626 NA 0.406 NA 2.72803 1379 5 1225801 1225801 G A intronic SLC6A18 NA NA NA intronic ENSG00000164363 NA NA NA NA NA 5p15.33 NA NA NA NA rs7704363 0.4 0.4 0.416 0.378195 0.4443 0.2222 0.4669 0.4274 0.3415 0.43 0.25 0.46 0.49 0.4045 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.867957 NA NA 0.423256 0.399455 NA 0.37 NA 2.727944 1379 11 5701409 5701409 G C UTR5 TRIM5 NM_033034:c.-2C>G,NM_033093:c.-2C>G,NM_033092:c.-2C>G NA NA UTR5 ENSG00000132256 ENST00000305836:c.-2C>G,ENST00000396855:c.-2C>G,ENST00000380034:c.-2C>G,ENST00000380027:c.-2C>G,ENST00000433961:c.-2C>G,ENST00000396847:c.-2C>G,ENST00000396853:c.-2C>G,ENST00000412903:c.-2C>G,ENST00000419850:c.-2C>G NA NA NA NA 11p15.4 NA NA NA NA rs3824949 0.41 0.41 0.39 0.39976 0.5348 0.4355 0.4741 0.1051 0.5695 0.54 0.45 0.49 0.12 0.51 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470357 NA NA 0.560666 0.186221 NA 0.42 NA 2.7278674 1379 3 37107470 37107470 G A intronic LRRFIP2 NA NA NA intronic ENSG00000093167 NA NA NA NA NA 3p22.2 NA NA NA NA rs2302503 0.34 0.34 0.334 0.301518 0.4394 0.0774 0.3775 0.3911 0.2157 0.45 0.09 0.43 0.39 0.373 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.57722 NA NA 0.459767 0.364049 NA 0.449 NA 2.727833 1379 18 51880841 51880841 C T intronic STARD6 NA NA NA intronic ENSG00000174448 NA NA NA NA NA 18q21.2 NA NA NA NA rs7242085 0.43 0.43 0.371 0.393371 0.4294 0.6736 0.4006 0.1029 0.455 0.44 0.69 0.39 0.12 0.4263 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.841871 NA NA 0.416667 0.136405 NA 0.384 NA 2.727633 1379 1 2338126 2338126 C A intronic PEX10 NA NA NA intronic ENSG00000157911 NA NA NA NA NA 1p36.32 NA NA NA NA rs3795269 0.35 0.35 0.336 0.339058 0.4274 0.253 0.4539 0.2859 0.3272 0.44 0.21 0.45 0.29 0.4176 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755011 NA NA 0.427791 0.294184 NA 0.384 NA 2.727209 1379 1 186055371 186055371 A G ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs6425017 0.65 0.65 0.658 0.661342 0.5169 0.5794 0.6599 0.9213 0.544 0.53 0.61 0.66 0.9 0.5783 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538587 NA NA 0.511047 0.856721 NA 0.703 NA 2.7270863 1379 6 47654831 47654831 A G intronic GPR111 NA NA NA intronic ENSG00000153294,ENSG00000164393 NA NA NA NA NA 6p12.3 NA NA NA NA rs1556132 0.47 0.47 0.486 0.51897 0.6262 0.3085 0.4352 0.469 0.7526 0.62 0.29 0.47 0.47 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245715 NA NA 0.646763 0.443642 NA 0.428 NA 2.727037 1379 1 186081918 186081918 C T ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000143341 NA NA NA NA NA 1q31.1 NA NA NA NA rs7555520 0.67 0.67 0.672 0.686102 0.5129 0.5913 0.6715 0.969 0.59 0.53 0.62 0.68 0.96 0.5854 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812598 NA NA 0.508023 0.893327 NA 0.703 NA 2.7270103 1379 8 95182801 95182801 G T intronic CDH17 NA NA NA intronic ENSG00000079112 NA NA NA NA NA 8q22.1 NA NA NA NA rs72670354 0.33 0.33 0.317 0.335064 0.4294 0.3185 0.2608 0.2057 0.4826 0.42 0.33 0.28 0.21 0.3923 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071703 2.071703 NA 0.451395 0.221062 ID=COSN168372;OCCURENCE=1(large_intestine) 0.333 NA 2.726905 1379 3 14174146 14174146 T C intronic TMEM43 NA NA NA intronic ENSG00000170876 NA NA NA NA NA 3p25.1 NA NA NA NA rs4685075 0.55 0.55 0.499 0.557308 0.3956 0.6786 0.5893 0.6248 0.4847 0.4 0.66 0.59 0.64 0.4707 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066112 NA NA 0.40686 0.568316 NA 0.435 NA 2.72684 1379 6 47654662 47654662 A G intronic GPR111 NA NA NA intronic ENSG00000153294,ENSG00000164393 NA NA NA NA NA 6p12.3 NA NA NA NA rs10485315 0.48 0.48 0.486 0.51897 0.6262 0.3085 0.4352 0.469 0.7526 0.62 0.3 0.49 0.48 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218688 NA NA 0.647077 0.442197 NA 0.428 NA 2.726723 1379 4 3216815 3216815 C G intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs916171 0.45 0.45 0.416 0.430711 0.4165 0.377 0.4179 0.5787 0.3098 0.43 0.39 0.42 0.56 0.439 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980815 NA NA 0.417925 0.567582 NA 0.536 NA 2.726575 1379 20 31374991 31374991 G A intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs4911107 0.58 0.58 0.556 0.617612 0.3628 0.9216 0.611 0.534 0.684 0.38 0.91 0.58 0.5 0.5075 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707474 NA NA 0.403605 0.495461 NA 0.428 NA 2.726095 1379 8 134464676 134464676 A G intergenic NDRG1,ST3GAL1 dist=155129;dist=2415 NA NA intergenic ENSG00000225259,ENSG00000008513 dist=43205;dist=2415 NA NA NA NA 8q24.22 NA NA NA NA rs741901 0.71 0.71 0.673 0.736621 0.6074 0.9851 0.7363 0.5772 0.8292 0.61 0.98 0.69 0.56 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363246 NA NA NA NA NA 0.732 NA 2.7259334 1379 7 150939193 150939193 A G intronic SMARCD3 NA NA NA intronic ENSG00000082014 NA NA NA NA NA 7q36.1 NA NA NA NA rs4725398 0.47 0.47 0.441 0.435304 0.4483 0.7222 0.4164 0.2716 0.3609 0.44 0.69 0.43 0.28 0.4168 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.713732 NA NA 0.409651 0.300045 NA 0.413 NA 2.725249 1380 14 23872666 23872666 T C intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs434273 0.79 0.79 0.795 0.784944 0.7505 0.6617 0.7853 0.9841 0.6779 0.75 0.68 0.82 0.98 0.7565 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277367 NA NA 0.768023 0.945302 NA 0.717 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037540.1;CLNDSDB=.;CLNDSDBID=. 2.724977 1380 10 105942304 105942304 T C intronic WDR96 NA NA NA intronic ENSG00000197748 NA NA NA NA NA 10q25.1 NA NA NA NA rs569856 0.46 0.46 0.475 0.506589 0.4304 0.3958 0.3631 0.7118 0.5235 0.42 0.36 0.38 0.7 0.4399 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214594 NA NA 0.404862 0.663187 NA 0.406 NA 2.724838 1380 17 78090928 78090928 G A intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs2304832 0.76 0.76 0.775 0.789337 0.7654 0.6498 0.5965 0.9834 0.8323 0.76 0.66 0.61 0.98 0.757 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392117 NA NA 0.753023 0.948252 NA 0.833 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078169.1;CLNDSDB=.;CLNDSDBID=. 2.724577 1380 20 18167977 18167977 T C exonic CSRP2BP NA synonymous SNV CSRP2BP:NM_020536:exon10:c.T2223C:p.P741P exonic ENSG00000149474 NA synonymous SNV ENSG00000149474:ENST00000489634:exon9:c.T1839C:p.P613P,ENSG00000149474:ENST00000435364:exon10:c.T2223C:p.P741P,ENSG00000149474:ENST00000278816:exon11:c.T2223C:p.P741P,ENSG00000149474:ENST00000377681:exon11:c.T2220C:p.P740P NA NA 20p11.23 NA NA NA NA rs2747404 0.99 0.99 0.992 0.991014 0.9781 1 0.9769 0.9977 0.9959 0.99 1 0.99 0.99 0.9859 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580522 NA NA 0.978488 0.995461 NA 0.971 NA 2.7241786 1380 9 139405261 139405261 C T intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs3125001 0.61 0.61 0.609 0.585463 0.4284 0.872 0.513 0.6952 0.3548 0.42 0.85 0.51 0.71 0.4725 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.528985 NA NA 0.375 0.621711 NA 0.565 NA 2.7241 1380 2 55200800 55200800 T G intronic RTN4 NA NA NA intronic ENSG00000115310 NA NA NA NA NA 2p16.1 NA NA NA NA rs2255112 0.42 0.42 0.398 0.345248 0.4414 0.6607 0.3991 0.0832 0.2372 0.43 0.68 0.42 0.11 0.4026 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509721 NA NA 0.432093 0.140717 NA 0.391 NA 2.723907 1380 7 131815343 131815343 G A intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA Name=30 NA rs10954361 0.72 0.72 0.695 0.66853 0.7714 0.8333 0.6037 0.4826 0.6902 0.78 0.83 0.65 0.53 0.7378 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.838754 1.838754 NA 0.766938 0.554899 NA 0.703 NA 2.723862 1380 3 193080344 193080344 C T intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 NA NA NA NA rs12636830 0.42 0.42 0.385 0.423722 0.4125 0.5764 0.4337 0.2428 0.5153 0.41 0.56 0.4 0.28 0.4372 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052646 NA NA 0.426512 0.28325 NA 0.297 NA 2.723788 1380 9 135073309 135073309 G A intronic NTNG2 NA NA NA intronic ENSG00000196358 NA NA NA NA NA 9q34.13 NA NA NA NA rs11243663 0.39 0.39 0.399 0.386182 0.4414 0.502 0.3314 0.2405 0.4458 0.44 0.48 0.32 0.27 0.4039 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09787 NA NA 0.430933 0.232339 NA 0.29 NA 2.723767 1380 19 33149768 33149768 G A intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs259251 0.41 0.41 0.388 0.373602 0.6252 0.252 0.4712 0.1573 0.4632 0.63 0.28 0.5 0.15 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055787 NA NA 0.65118 0.242009 NA 0.399 NA 2.72362 1380 10 13275691 13275691 G T intronic UCMA NA NA NA intronic ENSG00000165623 NA NA NA NA NA 10p13 NA NA NA NA rs10796042 0.33 0.33 0.296 0.28734 0.4284 0.245 0.2867 0.2284 0.2658 0.42 0.27 0.36 0.21 0.3826 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197313 NA NA 0.465465 0.282342 NA 0.326 NA 2.723535 1380 6 38781931 38781931 A T intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs1738221 0.5 0.5 0.46 0.504593 0.3748 0.7946 0.5908 0.3238 0.5225 0.38 0.78 0.55 0.33 0.47 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.294892 1.294892 NA 0.431728 0.340754 NA 0.543 NA 2.723472 1380 7 133981227 133981227 G A intronic SLC35B4 NA NA NA intronic ENSG00000205060 NA NA NA NA NA 7q33 NA NA NA NA rs1862052 0.27 0.27 0.241 0.29373 0.4374 0.122 0.4942 0.0477 0.5133 0.45 0.12 0.46 0.04 0.3993 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552416 NA NA 0.440116 0.117113 ID=COSM150393;OCCURENCE=1(stomach) 0.246 NA 2.723184 1380 8 27255325 27255325 C T intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs2241650 0.34 0.34 0.323 0.317692 0.4304 0.2748 0.3818 0.2057 0.3517 0.44 0.27 0.38 0.22 0.4 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864134 NA NA 0.446512 0.23241 NA 0.304 NA 2.723088 1380 12 3047466 3047466 G A intronic TULP3 NA NA NA intronic ENSG00000078246 NA NA NA NA NA 12p13.33 NA NA NA NA rs2074987 0.51 0.51 0.492 0.515775 0.4215 0.5615 0.4553 0.6354 0.4468 0.42 0.55 0.44 0.65 0.4484 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316326 NA NA 0.407326 0.59714 NA 0.464 NA 2.722774 1380 17 9783855 9783855 A G intronic GLP2R NA NA NA intronic ENSG00000065325 NA NA NA NA NA 17p13.1 NA NA NA NA rs2277690 0.45 0.45 0.443 0.46226 0.4085 0.2917 0.4597 0.6732 0.41 0.41 0.27 0.46 0.7 0.437 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.630671 NA NA 0.431744 0.609623 ID=COSN165328;OCCURENCE=1(breast) 0.572 NA 2.722756 1380 11 119003322 119003322 C A intronic HINFP NA NA NA intronic ENSG00000172273 NA NA NA NA NA 11q23.3 NA NA NA NA rs662069 0.44 0.44 0.409 0.400958 0.4433 0.7183 0.2824 0.1664 0.4315 0.44 0.74 0.33 0.18 0.4146 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.33937 NA NA 0.419907 0.191591 NA 0.37 NA 2.722193 1380 14 58600107 58600107 T A intronic C14orf37 NA NA NA intronic ENSG00000139971 NA NA NA NA NA 14q23.1 NA NA NA NA rs2180520 0.33 0.33 0.139 0.348842 0.5109 0.3095 0.3256 0.2526 0.3691 0.41 0.29 0.32 0.23 0.3901 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174774 NA NA 0.377491 0.17712 NA 0.159 NA 2.721509 1380 16 88664758 88664758 T C intronic ZC3H18 NA NA NA intronic ENSG00000158545 NA NA NA NA NA 16q24.2 NA NA NA NA rs3887592 0.43 0.43 0.411 0.407149 0.4095 0.5784 0.4928 0.2874 0.3292 0.43 0.59 0.43 0.24 0.45 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829725 NA NA 0.419535 0.322111 NA 0.333 NA 2.720965 1380 10 102689217 102689217 T C intronic FAM178A NA NA NA intronic ENSG00000119906 NA NA NA NA NA 10q24.31 NA NA NA NA rs2273654 0.26 0.26 0.251 0.261382 0.4493 0.0685 0.4049 0.1309 0.3415 0.45 0.08 0.37 0.1 0.3904 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675315 NA NA 0.439419 0.170449 NA 0.341 NA 2.720881 1380 14 47314938 47314938 C T intronic MDGA2 NA NA NA intronic ENSG00000139915 NA NA NA NA NA 14q21.3 NA NA NA NA rs1388568 0.44 0.44 0.41 0.420727 0.3976 0.627 0.6383 0.1793 0.4039 0.41 0.63 0.59 0.18 0.4531 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168474 NA NA 0.428484 0.237861 NA 0.312 NA 2.720816 1380 10 127843740 127843740 G T intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs1466359 0.53 0.53 0.517 0.538738 0.4294 0.7202 0.4568 0.466 0.6207 0.43 0.74 0.48 0.48 0.4703 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374886 NA NA 0.38 0.433954 NA 0.543 NA 2.7203 1380 9 12704725 12704725 C T intronic TYRP1 NA NA NA ncRNA_intronic ENSG00000235448 NA NA NA NA NA 9p23 NA NA NA NA rs2733832 0.28 0.28 0.246 0.220847 0.5716 0.0179 0.353 0.0545 0.2004 0.58 0.01 0.38 0.05 0.4469 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.490343 NA NA 0.594535 0.141852 NA 0.384 NA 2.7202983 1380 12 4771682 4771682 G A intronic NDUFA9 NA NA NA intronic ENSG00000139180 NA NA NA NA NA 12p13.32 NA NA NA NA rs2267549 0.37 0.37 0.341 0.346845 0.4185 0.3204 0.5202 0.1815 0.4008 0.44 0.33 0.49 0.21 0.4251 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.95279 NA NA 0.436163 0.237857 NA 0.377 NA 2.720237 1380 17 39596538 39596538 C T intronic KRT38 NA NA NA intronic ENSG00000171360 NA NA NA NA NA 17q21.2 NA NA NA NA rs2071609 0.45 0.45 0.44 0.423522 0.4394 0.5238 0.5663 0.3253 0.3354 0.44 0.53 0.49 0.34 0.4393 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714129 NA NA 0.401512 0.349977 NA 0.442 NA 2.719788 1380 15 78458485 78458485 T C intronic IDH3A NA NA NA intronic ENSG00000166411 NA NA NA NA NA 15q25.1 NA NA NA NA rs3816253 0.39 0.39 0.401 0.375 0.4344 0.1885 0.3991 0.4879 0.3364 0.43 0.19 0.43 0.53 0.4068 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556107 NA NA 0.439087 0.490209 NA 0.399 NA 2.719713 1380 12 3310482 3310482 C G intronic TSPAN9 NA NA NA intronic ENSG00000011105 NA NA NA NA NA 12p13.32 NA NA NA NA rs740775 0.59 0.59 0.544 0.596845 0.6412 0.6776 0.5375 0.4773 0.6718 0.65 0.66 0.56 0.45 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501886 NA NA 0.639221 0.475434 NA 0.435 NA 2.719579 1380 17 5048207 5048207 A G intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 Score=1000;Name=V$AML1_01 NA NA NA rs2304447 0.62 0.62 0.594 0.591054 0.7753 0.3958 0.7032 0.7247 0.3425 0.75 0.35 0.71 0.68 0.7044 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157196 NA NA 0.801512 0.734907 NA 0.029 NA 2.718788 1380 20 3176009 3176009 T C intronic DDRGK1 NA NA NA intronic ENSG00000198171 NA NA NA NA NA 20p13 NA NA NA NA rs2295552 0.41 0.41 0.351 0.433107 0.4414 0.4028 0.3761 0.4259 0.5061 0.43 0.37 0.39 0.43 0.4148 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579188 NA NA 0.425116 0.397867 NA 0.522 NA 2.718684 1380 7 30536874 30536874 G A intronic GGCT NA NA NA intronic ENSG00000006625 NA NA NA NA NA 7p14.3 NA NA NA NA rs38405 0.56 0.56 0.578 0.583666 0.3897 0.4266 0.5533 0.9493 0.4724 0.38 0.47 0.56 0.93 0.4825 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015751 NA NA 0.409123 0.855682 NA 0.551 NA 2.718677 1380 14 106382687 106382687 C T intergenic ELK2AP,KIAA0125 dist=243543;dist=1151 NA NA exonic ENSG00000211931 NA unknown UNKNOWN NA NA 14q32.33 NA NA NA NA rs2857339 0.39 0.39 0.364 0.350639 0.505 0.1984 0.402 0.3669 0.2904 0.51 0.22 0.45 0.36 0.4446 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.475093 NA NA 0.498414 0.372617 NA 0.203 NA 2.7186527 1380 10 127843921 127843921 T C intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs1466361 0.53 0.53 0.526 0.538738 0.4294 0.7202 0.4568 0.466 0.6207 0.43 0.74 0.48 0.48 0.4714 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755793 NA NA 0.380581 0.434408 NA 0.529 NA 2.718619 1380 16 10770075 10770075 A G intronic TEKT5 NA NA NA intronic ENSG00000153060 NA NA NA NA NA 16p13.13 NA NA NA NA rs2719711 0.61 0.61 0.596 0.66853 0.3618 0.8135 0.6124 0.8139 0.6779 0.38 0.82 0.54 0.79 0.52 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399991 NA NA 0.399651 0.758762 NA 0.725 NA 2.718549 1380 4 74014809 74014809 A C intronic ANKRD17 NA NA NA intronic ENSG00000132466 NA NA NA NA NA 4q13.3 NA NA NA NA rs1534450 0.41 0.41 0.36 0.375399 0.4195 0.4792 0.5259 0.2065 0.3446 0.43 0.51 0.52 0.19 0.4327 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408985 NA NA 0.429338 0.232712 NA 0.399 NA 2.718462 1380 12 55250714 55250714 G A intronic MUCL1 NA NA NA intronic ENSG00000172551 NA NA NA NA NA 12q13.2 NA NA NA NA rs10876639 0.45 0.45 0.401 0.459465 0.4056 0.7262 0.5562 0.1142 0.638 0.41 0.71 0.52 0.15 0.4652 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81324 NA NA 0.411628 0.142079 NA 0.384 NA 2.717572 1380 17 11583089 11583089 T C exonic DNAH9 NA synonymous SNV DNAH9:NM_001372:exon18:c.T3369C:p.D1123D exonic ENSG00000007174 NA synonymous SNV ENSG00000007174:ENST00000262442:exon18:c.T3369C:p.D1123D,ENSG00000007174:ENST00000454412:exon18:c.T3369C:p.D1123D NA NA 17p12 NA NA NA NA rs8071438 0.96 0.96 0.946 0.947883 0.9891 0.9147 0.9654 0.9221 0.9622 0.99 0.92 0.96 0.93 0.9722 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295226 NA NA 0.988023 0.929868 NA 0.971 NA 2.7173436 1380 10 127843756 127843756 G A intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs1466360 0.53 0.53 0.523 0.544529 0.4304 0.7202 0.4568 0.4871 0.6207 0.43 0.74 0.48 0.5 0.4724 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084373 NA NA 0.380581 0.461416 NA 0.543 NA 2.716619 1380 14 21971729 21971729 C G intronic METTL3 NA NA NA intronic ENSG00000165819 NA NA NA NA NA 14q11.2 NA NA NA NA rs2242526 0.43 0.43 0.428 0.424521 0.4274 0.3214 0.4236 0.4932 0.4356 0.44 0.33 0.43 0.52 0.4231 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.126225 NA NA 0.433372 0.452792 NA 0.471 NA 2.716128 1380 2 220033956 220033956 T C intronic SLC23A3 NA NA NA intronic ENSG00000213901 NA NA NA NA NA 2q35 NA NA NA NA rs6436121 0.44 0.44 0.415 0.413538 0.6541 0.2302 0.4179 0.2436 0.5818 0.67 0.26 0.47 0.27 NA 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.304157 NA NA 0.630107 0.309971 NA 0.5 NA 2.715793 1380 6 101100783 101100783 T C intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs9399641 0.31 0.31 0.28 0.248602 0.4642 0.2153 0.4092 0.0635 0.1973 0.48 0.24 0.38 0.07 0.3685 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.544138 NA NA 0.451512 0.147593 NA 0.312 NA 2.715788 1380 12 126994913 126994913 G A intergenic LOC100128554,LOC387895 dist=37582;dist=220334 NA NA downstream ENSG00000255853 NA NA NA NA NA 12q24.32 NA NA NA NA rs10847172 0.72 0.72 0.678 0.679113 0.7843 0.9573 0.8256 0.236 0.7791 0.79 0.96 0.82 0.25 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991909 NA NA NA NA NA 0.478 NA 2.7157 1380 21 43829758 43829758 G A intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA NA NA NA rs11702374 0.42 0.42 0.383 0.403754 0.4165 0.2907 0.3991 0.5348 0.3333 0.43 0.31 0.42 0.52 0.4135 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656039 NA NA 0.454651 0.506582 NA 0.464 NA 2.715349 1380 2 197172816 197172816 G A intronic HECW2 NA NA NA intronic ENSG00000138411 NA NA NA NA NA 2q32.3 NA NA Name=6 NA rs2305567 0.77 0.77 0.748 0.749601 0.7634 0.9603 0.8012 0.5287 0.7802 0.76 0.95 0.76 0.57 0.767 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180486 NA NA 0.754302 0.540172 NA 0.667 NA 2.715298 1380 17 39596393 39596393 C A intronic KRT38 NA NA NA intronic ENSG00000171360 NA NA NA NA NA 17q21.2 NA NA NA NA rs12601328 0.45 0.45 0.443 0.423522 0.4394 0.5238 0.5663 0.3253 0.3354 0.44 0.53 0.49 0.34 0.4439 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.419372 NA NA 0.401512 0.350204 NA 0.442 NA 2.715188 1380 10 5066566 5066566 A G intergenic AKR1C2,AKR1C3 dist=6341;dist=24392 NA NA intergenic ENSG00000151632,ENSG00000251740 dist=6359;dist=23489 NA NA NA NA 10p15.1 NA NA NA NA rs1937880 0.53 0.53 0.5 0.508786 0.6183 0.4206 0.6787 0.4312 0.4714 0.61 0.44 0.66 0.45 NA 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649894 NA NA NA NA NA 0.5 NA 2.7150334 1381 17 5036849 5036849 T C intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA Score=497;Name=lod=140 NA 17p13.2 NA NA NA NA rs3867174 0.57 0.57 0.621 0.590855 0.7753 0.3948 0.6974 0.73 0.3395 0.69 0.36 0.67 0.57 0.7033 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120218 NA NA 0.806467 0.744439 NA 0.5 NA 2.714933 1381 11 44959213 44959213 C T intronic TP53I11 NA NA NA intronic ENSG00000175274 NA NA NA NA NA 11p11.2 NA NA NA NA rs2279363 0.46 0.46 0.427 0.488019 0.4026 0.6607 0.4712 0.2943 0.6718 0.41 0.67 0.5 0.27 0.4725 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234669 NA NA 0.410328 0.315479 NA 0.457 NA 2.714572 1381 18 14475655 14475655 C T intergenic CYP4F35P,CXADRP3 dist=133132;dist=2299 NA NA intergenic ENSG00000266605,ENSG00000265766 dist=24773;dist=2299 NA NA NA NA 18p11.21 NA NA NA NA rs34786265 0.33 0.33 0.305 0.275958 0.6193 0.128 0.389 0.0552 0.2935 0.64 0.11 0.39 0.06 NA 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440259 NA NA NA NA NA 0.145 NA 2.7140334 1381 9 135073315 135073315 C G intronic NTNG2 NA NA NA intronic ENSG00000196358 NA NA NA NA NA 9q34.13 NA NA NA NA rs11243664 0.4 0.4 0.406 0.398562 0.4414 0.502 0.3386 0.2806 0.4499 0.44 0.48 0.32 0.3 0.4099 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.640749 2.640749 NA 0.43493 0.27412 NA 0.297 NA 2.71377 1381 7 144706951 144706951 A G intergenic TPK1,CNTNAP2 dist=173805;dist=1106502 NA NA upstream ENSG00000214035 NA NA NA NA NA 7q35 NA NA NA NA rs7778641 0.72 0.72 0.721 0.689696 0.7863 0.8393 0.7003 0.5038 0.68 0.79 0.83 0.7 0.5 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924744 NA NA NA NA NA 0.667 NA 2.7137 1381 19 17885325 17885325 A C intronic FCHO1 NA NA NA intronic ENSG00000130475 NA NA NA NA NA 19p13.11 NA NA NA NA rs2287857 0.58 0.58 0.558 0.576278 0.4026 0.7778 0.536 0.5772 0.5746 0.41 0.81 0.52 0.61 0.4766 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699812 NA NA 0.407188 0.553563 NA 0.565 NA 2.713612 1381 12 97147503 97147503 G C intergenic CDK17,NEDD1 dist=353137;dist=153498 NA NA intronic ENSG00000270032 NA NA NA NA NA 12q23.1 NA NA NA NA rs1420649 0.47 0.47 0.48 0.459665 0.3012 0.6736 0.3818 0.534 0.3569 0.31 0.69 0.39 0.54 0.3652 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284305 NA NA 0.286744 0.512937 ID=COSN164336;OCCURENCE=1(breast) 0.312 NA 2.7135227 1381 19 44501227 44501227 A G exonic ZNF155 NA synonymous SNV ZNF155:NM_001260486:exon5:c.A1218G:p.G406G,ZNF155:NM_001260487:exon5:c.A1218G:p.G406G,ZNF155:NM_003445:exon5:c.A1218G:p.G406G,ZNF155:NM_198089:exon5:c.A1218G:p.G406G,ZNF155:NM_001260488:exon6:c.A1251G:p.G417G exonic ENSG00000204920 NA synonymous SNV ENSG00000204920:ENST00000270014:exon5:c.A1218G:p.G406G,ENSG00000204920:ENST00000590615:exon5:c.A1218G:p.G406G,ENSG00000204920:ENST00000407951:exon6:c.A1251G:p.G417G NA NA 19q13.31 NA NA NA NA rs388471 0.92 0.92 0.905 0.903554 0.992 1 0.9654 0.6619 0.9959 0.99 1 0.96 0.67 0.9681 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98424 NA NA 0.993256 0.707671 NA 0.906 NA 2.7133106 1381 21 44515685 44515685 T C intronic U2AF1 NA NA NA intronic ENSG00000160201 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839634 0.37 0.37 0.383 0.375799 0.4046 0.0873 0.536 0.5522 0.2914 0.39 0.1 0.51 0.55 0.4218 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141164 NA NA 0.460698 0.533818 NA 0.493 NA 2.712902 1381 3 100277476 100277476 G C intronic TMEM45A NA NA NA intronic ENSG00000181458 NA NA NA NA NA 3q12.2 NA NA NA NA rs7645690 0.4 0.4 0.407 0.367212 0.4453 0.3175 0.3934 0.4145 0.2556 0.46 0.33 0.43 0.38 0.4108 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622854 NA NA 0.431047 0.415116 NA 0.507 NA 2.712853 1381 2 71163225 71163225 C T intronic ATP6V1B1 NA NA NA intronic ENSG00000116039 NA NA NA NA NA 2p13.3 NA NA NA NA rs759219 0.4 0.4 0.408 0.377796 0.4453 0.3581 0.2954 0.4085 0.3456 0.46 0.36 0.31 0.43 0.4069 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048099 NA NA 0.435698 0.395597 NA 0.232 NA 2.712102 1381 17 39261611 39261611 G A upstream KRTAP4-9 NA NA NA UTR5 ENSG00000212722 ENST00000391415:c.-30G>A NA NA NA NA 17q21.2 NA NA NA NA rs11654665 NA NA 0.468 0.658546 0.6849 0.3909 0.6427 0.9372 0.5419 NA NA NA NA 0.6032 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458636 NA NA NA NA NA 0.239 NA 2.7119 1381 19 17881552 17881552 C T intronic FCHO1 NA NA NA intronic ENSG00000130475 NA NA NA NA NA 19p13.11 NA NA NA NA rs3746197 0.57 0.57 0.557 0.566693 0.4016 0.7758 0.5303 0.5484 0.5716 0.41 0.8 0.52 0.59 0.4766 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008796 NA NA 0.41 0.539492 NA 0.558 NA 2.7118 1381 2 17898326 17898326 C T intronic SMC6 NA NA NA intronic ENSG00000163029 NA NA NA NA NA 2p24.2 NA NA NA NA rs12469221 0.43 0.43 0.437 0.420327 0.4384 0.0794 0.3573 0.8691 0.1912 0.44 0.09 0.4 0.83 0.4052 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.350807 NA NA 0.444716 0.761353 NA 0.486 NA 2.711684 1381 1 19557713 19557713 G C intronic EMC1 NA NA NA ncRNA_intronic ENSG00000230424 NA NA NA NA NA 1p36.13 NA NA NA NA rs2275403 0.67 0.67 0.685 0.667931 0.5159 0.7401 0.6571 0.8699 0.4847 0.51 0.76 0.63 0.86 0.5809 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489494 NA NA 0.525814 0.820926 NA 0.739 NA 2.7107193 1381 1 27660568 27660568 G A intronic TMEM222 NA NA NA intronic ENSG00000186501 NA NA NA NA NA 1p36.11 NA NA NA NA rs35771571 0.35 0.35 0.354 0.359625 0.4592 0.2133 0.2795 0.4198 0.3834 0.46 0.21 0.29 0.4 0.3862 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273642 NA NA 0.444186 0.394916 NA 0.333 NA 2.710414 1381 9 35060955 35060955 T C intronic VCP NA NA NA intronic ENSG00000165280 NA NA NA NA NA 9p13.3 NA NA Name=7 NA rs2258240 0.7 0.7 0.69 0.701877 0.7684 0.4563 0.8372 0.7368 0.7434 0.77 0.5 0.83 0.75 0.7461 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.387688 NA NA 0.776047 0.733772 ID=COSN168535;OCCURENCE=1(large_intestine) 0.804 NA 2.709453 1381 11 107948858 107948858 T A intronic CUL5 NA NA NA intronic ENSG00000166266 NA NA NA NA NA 11q22.3 NA NA NA NA rs10890807 0.35 0.35 0.298 0.369409 0.4334 0.4206 0.5461 0.0582 0.546 0.41 0.42 0.51 0.07 0.4522 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117761 NA NA 0.405132 0.105481 NA 0.167 NA 2.709268 1381 13 31725732 31725732 A C intronic HSPH1 NA NA NA intronic ENSG00000120694 NA NA NA NA NA 13q12.3 NA NA NA NA rs4941772 0.27 0.27 0.27 0.223442 0.4642 0.0109 0.2723 0.236 0.1431 0.47 0.0017 0.3 0.25 0.3546 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451824 NA NA 0.472093 0.282115 NA 0.319 NA 2.709107 1381 19 17173487 17173487 A G intronic HAUS8 NA NA NA intronic ENSG00000131351 NA NA NA NA NA 19p13.11 NA NA NA NA rs3816550 0.43 0.43 0.385 0.471246 0.3996 0.4058 0.5187 0.4539 0.6022 0.39 0.42 0.48 0.47 0.466 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170613 NA NA 0.425349 0.444621 NA 0.486 NA 2.709051 1381 19 17885308 17885308 G A intronic FCHO1 NA NA NA intronic ENSG00000130475 NA NA NA NA NA 19p13.11 NA NA NA NA rs2287858 0.58 0.58 0.557 0.576278 0.4026 0.7778 0.536 0.5772 0.5746 0.41 0.81 0.52 0.61 0.4797 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717521 NA NA 0.408837 0.557195 NA 0.565 NA 2.708863 1381 19 54327440 54327440 G A UTR5 NLRP12 NM_144687:c.-12C>T,NM_001277129:c.-12C>T,NM_001277126:c.-12C>T NA NA UTR5 ENSG00000142405 ENST00000354278:c.-12C>T,ENST00000351894:c.-12C>T,ENST00000535162:c.-12C>T,ENST00000324134:c.-12C>T,ENST00000391775:c.-12C>T,ENST00000391772:c.-12C>T,ENST00000345770:c.-12C>T,ENST00000391773:c.-12C>T NA NA NA NA 19q13.42 NA NA NA NA rs4539722 0.48 0.48 0.452 0.421126 0.5686 0.5456 0.5029 0.177 0.4131 0.57 0.59 0.51 0.18 0.5035 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.6872 NA NA 0.552442 0.245347 NA 0.464 NA 2.7087914 1381 17 40705100 40705100 C T intronic HSD17B1 NA NA NA ncRNA_exonic ENSG00000266962 NA NA NA NA NA 17q21.2 NA NA NA NA rs597255 0.52 0.52 0.521 0.573482 0.5239 0.4534 0.5144 0.6664 0.6646 0.53 0.45 0.47 0.64 0.5577 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.226705 NA NA 0.543256 0.650704 NA 0.645 NA 2.7084773 1381 8 109462791 109462791 A G intronic EMC2 NA NA NA intronic ENSG00000104412 NA NA NA NA NA 8q23.1 NA NA NA NA rs4540386 0.66 0.66 0.682 0.696286 0.6581 0.5526 0.5432 0.8457 0.7904 0.66 0.55 0.55 0.85 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075932 NA NA 0.633648 0.791185 NA 0.725 NA 2.708252 1381 11 4572042 4572042 G C intergenic OR52M1,C11orf40 dist=4668;dist=20611 NA NA intergenic ENSG00000197790,ENSG00000171987 dist=4668;dist=20611 NA NA NA NA 11p15.4 NA NA NA NA rs7113602 0.66 0.66 0.624 0.623802 0.6252 0.7341 0.7406 0.5507 0.5245 0.65 0.71 0.71 0.56 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97121 NA NA NA NA NA 0.761 NA 2.7081334 1381 19 17382505 17382505 A T intronic BABAM1 NA NA NA intronic ENSG00000105393,ENSG00000130307,ENSG00000269307 NA NA NA NA NA 19p13.11 NA NA NA NA rs10420922 0.45 0.45 0.465 0.463059 0.4215 0.3155 0.4222 0.7095 0.3538 0.41 0.3 0.38 0.73 0.4367 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115404 NA NA 0.433671 0.671429 NA 0.449 NA 2.708129 1381 8 27593650 27593650 T C UTR3 CCDC25 NM_018246:c.*83A>G NA NA ncRNA_UTR3 ENSG00000147419 NA NA NA NA NA 8p21.1 NA NA NA NA rs10081527 0.8 0.8 0.846 0.84345 0.8907 0.7718 0.9092 0.8298 0.8405 0.85 0.73 0.87 0.73 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.698745 NA NA 0.901258 0.825867 NA 0.797 NA 2.708042 1381 1 229795070 229795070 T G UTR3 URB2 NM_014777:c.*26T>G NA NA UTR3 ENSG00000135763 ENST00000258243:c.*26T>G NA NA NA NA 1q42.13 NA NA NA NA rs1048306 0.63 0.63 0.629 0.602037 0.5457 0.8343 0.5778 0.5083 0.5644 0.53 0.87 0.6 0.53 0.5637 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408413 NA NA 0.51593 0.53586 NA 0.5 NA 2.7080034 1381 15 42377744 42377744 C G intronic PLA2G4D NA NA NA intronic ENSG00000159337 NA NA NA NA NA 15q15.1 NA NA Name=10 NA rs605253 0.69 0.69 0.668 0.664337 0.7684 0.6062 0.7925 0.5703 0.6534 0.77 0.61 0.81 0.59 0.7437 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328956 NA NA 0.78053 0.618475 NA 0.667 NA 2.70737 1381 11 57156438 57156438 A G intronic PRG2 NA NA NA intronic ENSG00000186652 NA NA NA NA NA 11q12.1 NA NA NA NA rs3741089 0.32 0.32 0.334 0.289936 0.4573 0.2341 0.2565 0.2481 0.2556 0.45 0.26 0.29 0.23 0.3774 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807646 NA NA 0.458217 0.287824 NA 0.312 NA 2.707083 1381 3 46016851 46016851 A T intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA NA NA NA rs751552 0.43 0.43 0.359 0.386981 0.4314 0.6607 0.5648 0.0628 0.3712 0.43 0.63 0.55 0.08 0.4305 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.446544 1.446544 NA 0.431047 0.123468 ID=COSN166861;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.355 NA 2.707053 1381 6 38820599 38820599 T G intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs9380787 0.51 0.51 0.464 0.50599 0.3757 0.8343 0.5994 0.2632 0.5634 0.39 0.83 0.56 0.29 0.4905 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.651565 NA NA 0.426977 0.283023 NA 0.572 NA 2.706823 1381 12 9021256 9021256 C T intronic A2ML1 NA NA NA intronic ENSG00000166535 NA NA NA NA NA 12p13.31 NA NA NA NA rs12816475 0.37 0.37 0.374 0.404553 0.4344 0.2153 0.3761 0.4879 0.4765 0.44 0.19 0.38 0.47 0.4127 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393291 NA NA 0.446894 0.439788 ID=COSN164141;OCCURENCE=1(breast) 0.507 NA 2.706006 1381 2 44145374 44145374 G T intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs7568481 0.65 0.65 0.67 0.654553 0.4046 0.9603 0.5922 0.7572 0.502 0.39 0.95 0.53 0.8 0.4992 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.018973 2.018973 NA 0.390581 0.674308 NA 0.58 NA 2.705619 1381 6 31106409 31106409 A G intronic PSORS1C1,PSORS1C2 NA NA NA intronic ENSG00000204538,ENSG00000204540 NA NA NA NA NA 6p21.33 NA NA NA NA rs3132557 0.43 0.43 0.399 0.406949 0.4384 0.496 0.4971 0.2867 0.3814 0.45 0.49 0.49 0.3 0.4202 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535825 NA NA 0.436139 0.30894 NA 0.399 NA 2.705261 1381 17 4638010 4638010 T G intronic CXCL16 NA NA NA intronic ENSG00000161921 NA NA NA NA NA 17p13.2 NA NA NA NA rs3744700 0.72 0.72 0.713 0.746406 0.6392 0.8849 0.7695 0.5915 0.907 0.65 0.89 0.75 0.59 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.09574 NA NA 0.655563 0.580925 NA 0.674 NA 2.705237 1382 2 17888457 17888457 G A intronic SMC6 NA NA NA intronic ENSG00000163029 NA NA NA NA NA 2p24.2 NA NA NA NA rs6734462 0.43 0.43 0.442 0.420527 0.4384 0.0804 0.3573 0.8691 0.1912 0.44 0.09 0.4 0.83 0.413 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726613 NA NA 0.443953 0.760445 NA 0.486 NA 2.704647 1382 14 50732042 50732042 G A intronic L2HGDH NA NA NA intronic ENSG00000087299 NA NA NA NA NA 14q21.3 NA NA NA NA rs12432673 0.41 0.41 0.398 0.417133 0.4314 0.6359 0.3833 0.1891 0.5092 0.42 0.62 0.36 0.17 0.4377 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716691 NA NA 0.426628 0.227871 NA 0.246 NA 2.704272 1382 22 50720181 50720181 C G intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs28442189 0.36 0.36 0.381 0.372404 0.4423 0.2738 0.2911 0.32 0.5307 0.44 0.31 0.3 0.35 0.4246 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.103675 NA NA 0.428959 0.332864 NA 0.297 NA 2.704141 1382 2 170428127 170428127 T G intronic FASTKD1 NA NA NA intronic ENSG00000138399 NA NA NA NA NA 2q31.1 NA NA NA NA rs4668146 0.37 0.37 0.335 0.34405 0.4294 0.4643 0.4755 0.118 0.3446 0.42 0.44 0.41 0.17 0.4798 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032265 NA NA 0.386683 0.160319 NA 0.297 NA 2.704117 1382 11 60700991 60700991 A G intronic TMEM132A NA NA NA intronic ENSG00000006118 NA NA NA NA NA 11q12.2 NA NA NA NA rs512233 0.41 0.41 0.42 0.41873 0.4225 0.3165 0.4452 0.4614 0.4438 0.42 0.32 0.45 0.46 0.4495 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151505 NA NA 0.424065 0.448952 NA 0.493 NA 2.703935 1382 11 47826090 47826090 A C intronic NUP160 NA NA NA intronic ENSG00000030066 NA NA NA NA NA 11p11.2 NA NA NA NA rs11039402 0.32 0.32 0.313 0.344848 0.4304 0.4355 0.3213 0.084 0.5327 0.43 0.35 0.34 0.12 0.4102 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.502683 4.502683 NA 0.455561 0.15652 NA 0.297 NA 2.703839 1382 1 236381917 236381917 T A intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs1614938 0.57 0.57 0.544 0.569289 0.4006 0.8839 0.5821 0.4803 0.5297 0.38 0.89 0.58 0.47 0.4953 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002121 NA NA 0.400304 0.482916 NA 0.536 NA 2.703796 1382 8 17927280 17927280 G T intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs2106037 0.34 0.34 0.295 0.339058 0.4463 0.3016 0.4337 0.1324 0.4796 0.44 0.29 0.46 0.16 0.4131 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18655 NA NA 0.436816 0.176431 NA 0.159 NA 2.703784 1382 1 55572867 55572867 G A intronic USP24 NA NA NA intronic ENSG00000162402 NA NA NA NA NA 1p32.3 NA NA Name=14 NA rs594226 0.7 0.7 0.666 0.691893 0.7704 0.9196 0.8473 0.2632 0.8456 0.76 0.9 0.82 0.3 0.758 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334577 NA NA 0.767922 0.367066 NA 0.667 NA 2.703678 1382 16 57713250 57713250 C T intronic GPR97 NA NA NA intronic ENSG00000182885 NA NA NA NA NA 16q21 NA NA NA NA rs4238795 0.57 0.57 0.577 0.591254 0.4076 0.5437 0.5793 0.857 0.4785 0.39 0.57 0.6 0.84 0.4931 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.030375 NA NA 0.39593 0.78162 NA 0.543 NA 2.70337 1382 7 82455895 82455895 A G intronic PCLO NA NA NA intronic ENSG00000186472 NA NA NA NA NA 7q21.11 NA NA NA NA rs2715150 0.42 0.42 0.4 0.402556 0.4324 0.6865 0.4164 0.0424 0.5562 0.45 0.7 0.41 0.07 0.4432 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.793535 3.793535 NA 0.421143 0.103942 NA 0.225 NA 2.703257 1382 5 170221185 170221185 A G intronic GABRP NA NA NA intronic ENSG00000094755 NA NA NA NA NA 5q35.1 NA NA NA NA rs6884917 0.51 0.51 0.549 0.554513 0.4235 0.4167 0.3963 0.8691 0.5184 0.43 0.43 0.4 0.83 0.4595 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032178 NA NA 0.413837 0.805719 NA 0.58 NA 2.703163 1382 4 184922669 184922669 G A intronic STOX2 NA NA NA intronic ENSG00000173320 NA NA NA NA NA 4q35.1 NA NA NA NA rs3749534 0.36 0.36 0.332 0.350839 0.4374 0.4593 0.4049 0.0643 0.499 0.45 0.48 0.37 0.08 0.4155 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050184 NA NA 0.444814 0.122439 NA 0.275 NA 2.702286 1382 16 30017895 30017895 T C intronic DOC2A NA NA NA intronic ENSG00000149927 NA NA NA NA NA 16p11.2 NA NA NA NA rs3814880 0.35 0.35 0.312 0.357827 0.4423 0.378 0.3213 0.1846 0.5102 0.44 0.36 0.35 0.18 0.4095 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.112864 NA NA 0.446047 0.200956 NA 0.355 NA 2.702153 1382 3 42264393 42264393 A G intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA NA NA NA rs3733053 0.47 0.47 0.474 0.475439 0.4513 0.4534 0.3285 0.7118 0.3078 0.45 0.42 0.32 0.65 0.4369 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263003 NA NA 0.409736 0.611614 NA 0.486 NA 2.702064 1382 6 46856263 46856263 G A intronic GPR116 NA NA NA intronic ENSG00000069122 NA NA NA NA NA 6p12.3 NA NA NA NA rs677439 0.36 0.36 0.32 0.302915 0.4612 0.5159 0.3112 0.059 0.2444 0.44 0.53 0.33 0.05 0.3937 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041113 NA NA 0.44314 0.110758 NA 0.377 NA 2.70196 1382 5 33458636 33458636 G A intronic TARS NA NA NA intronic ENSG00000113407 NA NA NA NA NA 5p13.3 NA NA NA NA rs3765145 0.56 0.56 0.576 0.606829 0.3986 0.7312 0.4914 0.702 0.6462 0.4 0.73 0.45 0.69 0.506 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031012 NA NA 0.393605 0.669088 NA 0.645 NA 2.701795 1382 1 203055101 203055101 A G UTR5 MYOG NM_002479:c.-12T>C NA NA UTR5 ENSG00000122180 ENST00000241651:c.-12T>C NA NA NA NA 1q32.1 NA NA NA NA rs4950877 0.53 0.53 0.503 0.520367 0.5427 0.5308 0.6196 0.5219 0.4141 0.53 0.53 0.57 0.52 0.5534 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.615453 1.615453 NA 0.535465 0.5463 NA 0.609 NA 2.7017684 1382 19 46627592 46627592 G A intronic IGFL3 NA NA NA ncRNA_intronic ENSG00000267922 NA NA NA NA NA 19q13.32 NA NA NA NA rs2287307 0.4 0.4 0.403 0.383387 0.5736 0.3145 0.3501 0.2829 0.4182 0.54 0.29 0.4 0.28 0.485 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.683073 NA NA 0.573837 0.333943 NA 0.304 NA 2.7008963 1382 7 624221 624221 T G intronic PRKAR1B NA NA NA intronic ENSG00000188191 NA NA NA NA NA 7p22.3 NA NA NA NA rs9330368 0.72 0.72 0.729 NA NA NA NA NA NA 0.57 0.83 0.71 0.83 0.6857 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189341 NA NA 0.613594 0.794598 NA 0.703 NA 2.700706 1382 15 101110356 101110356 T C intronic LINS NA NA NA intronic ENSG00000140471 NA NA NA NA NA 15q26.3 NA NA NA NA rs2411838 0.33 0.33 0.329 0.311502 0.4513 0.246 0.2493 0.2375 0.3793 0.46 0.25 0.29 0.25 0.3846 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229039 NA NA 0.463403 0.273394 NA 0.377 NA 2.700697 1382 16 17221755 17221755 T G intronic XYLT1 NA NA NA intronic ENSG00000103489 NA NA NA NA NA 16p12.3 NA NA NA NA rs3812961 0.26 0.26 0.228 0.211462 0.4612 0.1052 0.2522 0.0749 0.2198 0.47 0.11 0.31 0.07 0.3641 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387247 NA NA 0.47407 0.150432 ID=COSN165126;OCCURENCE=1(breast) 0.297 NA 2.70063 1382 5 73091126 73091126 T A intronic ARHGEF28 NA NA NA intronic ENSG00000214944 NA NA NA NA NA 5q13.2 NA NA NA NA rs2973549 0.36 0.36 0.292 0.35024 0.4622 0.2798 0.3631 0.2912 0.3783 0.47 0.27 0.36 0.32 0.4308 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34973 NA NA 0.406703 0.255402 ID=COSN167489;OCCURENCE=1(large_intestine) 0.254 NA 2.700297 1382 1 236381897 236381897 T A intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs1615601 0.57 0.57 0.533 0.569289 0.4006 0.8839 0.5821 0.4803 0.5297 0.38 0.89 0.58 0.47 0.4983 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788764 NA NA 0.40154 0.482727 NA 0.536 NA 2.69956 1382 11 47801101 47801101 A G intronic NUP160 NA NA NA intronic ENSG00000030066 NA NA NA NA NA 11p11.2 NA NA NA NA rs7114813 0.32 0.32 0.299 0.344449 0.4304 0.4355 0.317 0.0847 0.5327 0.43 0.35 0.34 0.12 0.4129 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.021848 NA NA 0.457516 0.158467 NA 0.297 NA 2.699184 1382 2 160304741 160304741 A T intronic BAZ2B NA NA NA intronic ENSG00000123636 NA NA NA NA NA 2q24.2 NA NA NA NA rs12470533 0.38 0.38 0.391 0.343051 0.4652 0.3938 0.2997 0.3215 0.2249 0.44 0.39 0.34 0.32 0.3811 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.286071 1.286071 NA 0.455002 0.33763 NA 0.413 NA 2.698698 1382 3 42264422 42264422 T C intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA NA NA NA rs3733054 0.48 0.48 0.48 0.475839 0.4523 0.4544 0.3285 0.7118 0.3078 0.46 0.44 0.33 0.66 0.438 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436106 NA NA 0.411236 0.625867 NA 0.507 NA 2.698464 1382 6 42931224 42931224 G A intronic GNMT NA NA NA intronic ENSG00000124713 NA NA NA NA NA 6p21.1 NA NA NA NA rs4987173 0.34 0.34 0.346 0.341454 0.4622 0.1012 0.353 0.407 0.3681 0.46 0.12 0.36 0.39 0.3929 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022501 NA NA 0.447093 0.408761 NA 0.355 NA 2.697807 1382 1 204978643 204978643 C A intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs1530744 0.27 0.27 0.246 0.228435 0.4682 0.1984 0.2666 0.0174 0.271 0.47 0.18 0.35 0.03 0.3582 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387517 NA NA 0.476163 0.094417 NA 0.246 NA 2.697437 1382 2 202245955 202245955 A G intronic TRAK2 NA NA NA intronic ENSG00000115993 NA NA NA NA NA 2q33.1 NA NA NA NA rs72937131 NA NA NA 0.520567 0.661 0.4921 0.5461 0.3381 0.6339 NA NA NA NA 0.6426 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.055064 NA NA NA NA NA NA NA 2.6964 1382 1 236385360 236385360 C T intronic ERO1LB NA NA NA intronic ENSG00000086619 NA NA NA NA NA 1q42.3 NA NA NA NA rs2477587 0.57 0.57 0.551 0.569489 0.4006 0.8849 0.5821 0.4803 0.5297 0.38 0.89 0.58 0.47 0.5003 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.015143 2.015143 NA 0.403094 0.488409 NA 0.536 NA 2.696006 1382 10 99225738 99225738 T A intronic MMS19 NA NA NA intronic ENSG00000155229 NA NA NA NA NA 10q24.1 NA NA NA NA rs2236575 0.42 0.42 0.424 0.384185 0.4543 0.375 0.415 0.3631 0.3282 0.46 0.38 0.45 0.37 0.4184 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538776 NA NA 0.43186 0.368588 ID=COSN163725;OCCURENCE=1(breast) 0.507 NA 2.69544 1383 3 67660049 67660049 A G intronic SUCLG2 NA NA NA intronic ENSG00000172340 NA NA NA NA NA 3p14.1 NA NA NA NA rs2290175 0.43 0.43 0.448 0.447684 0.4274 0.4385 0.2608 0.6793 0.2975 0.42 0.37 0.29 0.63 0.4234 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.664775 1.664775 NA 0.454757 0.640984 NA 0.522 NA 2.694443 1383 3 67660040 67660040 G A intronic SUCLG2 NA NA NA intronic ENSG00000172340 NA NA NA NA NA 3p14.1 NA NA NA NA rs2290174 0.43 0.43 0.451 0.447684 0.4274 0.4385 0.2608 0.6793 0.2975 0.42 0.37 0.29 0.63 0.423 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281724 NA NA 0.455257 0.64173 NA 0.522 NA 2.694343 1383 10 127483573 127483573 G A intronic UROS NA NA NA intronic ENSG00000188690 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740179 0.39 0.39 0.396 0.401158 0.4423 0.3115 0.3372 0.438 0.4468 0.44 0.32 0.36 0.41 0.411 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084119 NA NA 0.452674 0.427372 ID=COSN163808;OCCURENCE=1(NS) 0.384 NA 2.694026 1383 10 12288302 12288302 A G intronic CDC123 NA NA NA ncRNA_exonic ENSG00000228302 NA NA NA NA NA 10p13 NA NA NA NA rs36042706 0.45 0.45 0.432 0.429313 0.5517 0.3264 0.5245 0.3086 0.5051 0.55 0.37 0.57 0.32 0.5201 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28918 NA NA 0.567791 0.342261 NA 0.486 NA 2.6937423 1383 12 81647065 81647065 G A intronic ACSS3 NA NA NA intronic ENSG00000111058 NA NA NA NA NA 12q21.31 NA NA NA NA rs2895868 0.24 0.24 0.211 0.221645 0.4523 0.0298 0.3256 0.093 0.2822 0.43 0.03 0.34 0.11 0.3749 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.302881 2.302881 NA 0.47907 0.174989 NA 0.312 NA 2.69373 1383 12 117696164 117696164 G A intronic NOS1 NA NA NA intronic ENSG00000089250 NA NA NA NA NA 12q24.22 NA NA NA NA rs1093329 0.56 0.56 0.558 0.560903 0.4304 0.6409 0.6196 0.6452 0.4571 0.44 0.61 0.59 0.66 0.4718 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693008 NA NA 0.404335 0.584974 NA 0.572 NA 2.693465 1383 10 127484653 127484653 G A intronic UROS NA NA NA intronic ENSG00000188690 NA NA NA NA NA 10q26.13 NA NA NA NA rs2281954 0.38 0.38 0.417 0.395966 0.4443 0.2857 0.3415 0.4387 0.4407 0.44 0.29 0.36 0.41 0.4095 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042336 NA NA 0.453256 0.42601 ID=COSN163809;OCCURENCE=1(NS) 0.377 NA 2.692944 1383 6 119509785 119509785 C G intronic MAN1A1 NA NA NA intronic ENSG00000111885 NA NA NA NA NA 6q22.31 NA NA NA NA rs2142887 0.28 0.28 0.233 0.241613 0.4771 0.2034 0.2579 0.0393 0.3006 0.48 0.17 0.31 0.05 0.3741 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574559 NA NA 0.45593 0.111439 NA 0.275 NA 2.69287 1383 6 25689487 25689487 G C intronic SCGN NA NA NA intronic ENSG00000079689 NA NA NA NA NA 6p22.2 NA NA NA NA rs2294346 0.48 0.48 0.454 0.470248 0.4433 0.7024 0.5173 0.2799 0.4826 0.44 0.72 0.49 0.26 0.453 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170828 NA NA 0.41093 0.313436 NA 0.377 NA 2.69277 1383 6 70778379 70778379 C T intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs2224514 0.41 0.41 0.035 0.521366 0.6044 0.2708 0.3775 0.7882 0.4356 0.49 0.2 0.33 0.57 0.5437 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119732 NA NA 0.159651 0.32433 NA NA NA 2.692249 1383 19 11224181 11224181 C T intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA NA NA NA rs1003723 0.28 0.28 0.219 0.276757 0.4583 0.1825 0.4697 0.0318 0.3814 0.46 0.15 0.45 0.04 0.3858 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521706 NA NA 0.463837 0.096005 NA 0.304 NA 2.692063 1383 1 68905358 68905358 G C intronic RPE65 NA NA NA intronic ENSG00000116745 NA NA NA NA NA 1p31.2 NA NA NA NA rs1925955 0.66 0.66 0.651 0.69349 0.3917 0.8641 0.6715 0.857 0.6227 0.4 0.88 0.64 0.8 0.5272 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144461 NA NA 0.389535 0.771448 NA 0.681 NA 2.691565 1383 10 1779349 1779349 G A UTR5 ADARB2 NM_018702:c.-5C>T NA NA UTR5 ENSG00000185736 ENST00000381312:c.-5C>T NA NA NA NA 10p15.3 NA NA NA NA rs3750684 0.42 0.42 0.406 0.445887 0.5765 0.1647 0.464 0.4811 0.5409 0.55 0.17 0.47 0.46 0.5033 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.83435 1.83435 NA 0.562442 0.510667 NA 0.413 NA 2.6910914 1383 1 38444749 38444749 T C intronic SF3A3 NA NA NA intronic ENSG00000183431 NA NA NA NA NA 1p34.3 NA NA NA NA rs7555461 0.49 0.49 0.465 0.499401 0.4215 0.6825 0.5072 0.3964 0.5245 0.41 0.65 0.5 0.41 0.462 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.735433 1.735433 NA 0.42593 0.399591 NA 0.355 NA 2.69057 1383 3 100295733 100295733 A G intronic TMEM45A NA NA NA intronic ENSG00000181458 NA NA NA NA NA 3q12.2 NA NA NA NA rs7427360 0.5 0.5 0.53 0.475839 0.4423 0.3323 0.4251 0.8026 0.2526 0.46 0.34 0.44 0.81 0.4355 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.41527 2.41527 NA 0.431744 0.747617 NA 0.659 NA 2.690456 1383 6 70778378 70778378 G C intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs2224513 0.41 0.41 0.038 0.52516 0.6064 0.2708 0.3775 0.7988 0.4387 0.5 0.2 0.33 0.57 0.5437 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047161 NA NA 0.159535 0.301407 NA NA NA 2.690365 1383 6 160868701 160868701 G A intronic SLC22A3 NA NA NA intronic ENSG00000146477 NA NA NA NA NA 6q25.3 NA NA NA NA rs2457574 0.45 0.45 0.462 0.469848 0.4354 0.5367 0.3112 0.4138 0.6247 0.43 0.53 0.36 0.43 0.4503 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298524 NA NA 0.424186 0.385837 NA 0.399 NA 2.690114 1383 19 41077891 41077891 C T intronic SPTBN4 NA NA NA intronic ENSG00000160460 NA NA NA NA NA 19q13.2 NA NA NA NA rs8101070 0.33 0.33 0.352 0.30651 0.4324 0.0615 0.2666 0.4244 0.2986 0.45 0.06 0.31 0.48 0.399 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644645 NA NA 0.478721 0.440536 NA 0.275 NA 2.689879 1383 20 56886062 56886062 A G intronic RAB22A NA NA NA intronic ENSG00000124209 NA NA NA NA NA 20q13.32 NA NA NA NA rs542165 0.48 0.48 0.489 0.55651 0.4095 0.4583 0.4769 0.7027 0.6677 0.41 0.4 0.49 0.68 0.4866 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.600709 1.600709 NA 0.41407 0.677031 NA 0.543 NA 2.68983 1383 17 28386526 28386526 A G intronic EFCAB5 NA NA NA ncRNA_exonic ENSG00000265289 NA NA NA NA NA 17q11.2 NA NA NA NA rs4075623 0.55 0.55 0.575 0.572085 0.5656 0.2897 0.4669 0.9387 0.4489 0.55 0.29 0.48 0.92 0.5331 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144835 NA NA 0.544823 0.87152 NA 0.471 NA 2.6898103 1383 2 212543924 212543924 A G intronic ERBB4 NA NA NA intronic ENSG00000178568 NA NA NA NA NA 2q34 NA NA NA NA rs4673628 0.34 0.34 0.349 0.344249 0.4553 0.0089 0.3703 0.5166 0.3241 0.44 0.01 0.38 0.56 0.397 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88517 NA NA 0.457907 0.503858 NA 0.435 NA 2.689793 1383 12 99166805 99166805 G T intronic ANKS1B NA NA NA intronic ENSG00000185046 NA NA NA NA NA 12q23.1 NA NA NA NA rs2287574 0.38 0.38 0.389 0.359824 0.4602 0.3333 0.3473 0.3351 0.3262 0.46 0.32 0.37 0.34 0.4012 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092433 NA NA 0.449103 0.342021 NA 0.413 NA 2.689497 1383 1 2332391 2332391 C T intronic RER1 NA NA NA intronic ENSG00000157916 NA NA NA NA NA 1p36.32 NA NA NA NA rs12037485 0.35 0.35 0.325 0.340256 0.4483 0.255 0.4539 0.2678 0.3344 0.46 0.21 0.45 0.26 0.4124 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.945625 NA NA 0.449866 0.273645 NA 0.391 NA 2.689434 1383 5 24509947 24509947 C A intronic CDH10 NA NA NA intronic ENSG00000040731 NA NA NA NA NA 5p14.2 NA NA NA NA rs3797171 0.36 0.36 0.324 0.351837 0.4165 0.2956 0.5346 0.2141 0.3998 0.42 0.29 0.5 0.24 0.4403 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178741 NA NA 0.453826 0.253633 NA 0.377 NA 2.689374 1383 5 7757715 7757715 C T intronic ADCY2 NA NA NA intronic ENSG00000078295 NA NA NA NA NA 5p15.31 NA NA NA NA rs4479814 0.47 0.47 0.445 0.486621 0.4324 0.3363 0.5922 0.7012 0.3323 0.42 0.31 0.53 0.7 0.4486 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961483 NA NA 0.429651 0.679528 NA 0.37 NA 2.689349 1383 17 64173170 64173170 A G intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs2159557 0.31 0.31 0.312 0.247804 0.4781 0.0704 0.255 0.2844 0.1391 0.49 0.07 0.29 0.33 0.3762 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873294 NA NA 0.45675 0.322161 NA 0.283 NA 2.68895 1383 7 142198080 142198080 A G intergenic LOC730441,MTRNR2L6 dist=226012;dist=176051 NA NA upstream ENSG00000241657 NA NA NA NA NA 7q34 NA NA NA NA rs17276 0.5 0.5 0.487 0.529952 0.4195 0.6369 0.4092 0.5537 0.5869 0.41 0.65 0.39 0.54 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871485 NA NA 0.392206 0.528902 NA 0.355 NA 2.688294 1383 12 77424135 77424135 C T intronic E2F7 NA NA NA intronic ENSG00000165891 NA NA NA NA NA 12q21.2 NA NA NA NA rs10862960 0.34 0.34 0.294 0.313898 0.4453 0.2897 0.4222 0.1218 0.3865 0.44 0.32 0.42 0.13 0.421 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568821 NA NA 0.44544 0.180119 NA 0.304 NA 2.68826 1383 15 25299309 25299309 C T upstream SNORD116-2 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs2554432 0.46 0.46 0.403 0.449681 0.4901 0.5784 0.4971 0.1808 0.6053 0.5 0.59 0.49 0.22 0.5031 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255214 NA NA 0.485434 0.214612 NA 0.406 NA 2.6880326 1383 3 10387059 10387059 C A intronic ATP2B2 NA NA NA intronic ENSG00000157087 NA NA NA NA NA 3p25.3 NA NA NA NA rs241509 0.41 0.41 0.36 0.406749 0.4404 0.497 0.5519 0.1104 0.5767 0.43 0.55 0.52 0.12 0.4444 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313645 NA NA 0.427209 0.143441 NA 0.457 NA 2.687991 1383 15 41509288 41509288 T A intronic EXD1 NA NA NA intronic ENSG00000178997 NA NA NA NA NA 15q15.1 NA NA NA NA rs7173086 0.48 0.48 0.503 0.52516 0.4394 0.2877 0.3804 0.823 0.5583 0.41 0.29 0.41 0.86 0.4443 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726159 NA NA 0.428372 0.761916 NA 0.551 NA 2.687928 1383 6 129622055 129622055 A G intronic LAMA2 NA NA NA intronic ENSG00000196569 NA NA NA NA NA 6q22.33 NA NA NA NA rs902373 0.32 0.32 0.295 0.303714 0.4602 0.2976 0.3386 0.0953 0.4059 0.44 0.28 0.38 0.13 0.3995 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094272 NA NA 0.452442 0.161371 NA 0.406 NA 2.687858 1383 1 32155929 32155929 G A intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs2297681 0.34 0.34 0.341 0.304313 0.4791 0.1984 0.268 0.3313 0.2229 0.48 0.15 0.33 0.33 0.3775 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389934 NA NA 0.455708 0.3289 ID=COSN163032;OCCURENCE=1(NS) 0.348 NA 2.687692 1383 19 14065488 14065488 A G intronic DCAF15 NA NA NA intronic ENSG00000132017 NA NA NA NA NA 19p13.12 NA NA NA NA rs1056143 0.39 0.39 0.383 0.408147 0.4423 0.3591 0.317 0.4652 0.411 0.44 0.34 0.36 0.41 0.4192 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383845 NA NA 0.450814 0.444621 NA 0.449 NA 2.687686 1383 12 62104219 62104219 A C intronic FAM19A2 NA NA NA intronic ENSG00000198673 NA NA NA NA NA 12q14.1 NA NA NA NA rs7399207 0.41 0.41 0.398 0.41254 0.4503 0.4087 0.4308 0.413 0.364 0.46 0.36 0.42 0.39 0.4237 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998053 NA NA 0.438372 0.394235 NA 0.435 NA 2.687628 1383 1 175087677 175087677 G A intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs6656284 0.44 0.44 0.477 0.475839 0.4513 0.0833 0.3818 0.9092 0.3865 0.44 0.09 0.38 0.88 0.4225 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578098 1.578098 NA 0.438837 0.824171 NA 0.652 NA 2.687363 1383 6 54159866 54159866 C T intergenic MLIP,TINAG dist=28788;dist=13337 NA NA intergenic ENSG00000146147,ENSG00000137251 dist=28788;dist=12898 NA NA NA NA 6p12.1 NA NA NA NA rs7775058 0.43 0.43 0.399 0.408347 0.6461 0.2937 0.4409 0.2057 0.5327 0.65 0.31 0.46 0.21 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652761 NA NA NA NA NA 0.384 NA 2.6872334 1383 20 24645939 24645939 G A intronic SYNDIG1 NA NA NA intronic ENSG00000101463 NA NA NA NA NA 20p11.21 NA NA NA NA rs2892217 0.65 0.65 0.69 0.665935 0.4085 0.8671 0.3919 0.9758 0.499 0.41 0.85 0.38 0.98 0.4889 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.987017 NA NA 0.416047 0.871312 NA 0.768 NA 2.686553 1383 14 74193427 74193427 A G intronic ELMSAN1 NA NA NA intronic ENSG00000156030 NA NA NA NA NA 14q24.3 NA NA Name=23 NA rs887508 0.86 0.86 0.873 0.860024 0.7575 0.9187 0.8242 0.972 0.7791 0.74 0.95 0.83 0.97 0.7915 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.141441 NA NA 0.764884 0.938947 NA 0.768 NA 2.686116 1383 2 44173422 44173422 T G intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs7594526 0.62 0.62 0.615 0.635583 0.4135 0.9573 0.5893 0.6543 0.5399 0.4 0.95 0.52 0.65 0.5014 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.796184 1.796184 NA 0.399069 0.620291 NA 0.551 NA 2.686031 1383 3 195347127 195347127 G A intergenic APOD,SDHAP2 dist=36051;dist=37783 NA NA downstream ENSG00000224769 NA NA NA NA NA 3q29 NA NA NA NA rs3988246 0.84 0.84 0.866 0.827077 0.8141 0.9544 0.7046 0.9168 0.6748 0.78 0.96 0.71 0.88 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8428 NA NA NA NA NA 0.246 NA 2.6859 1383 15 82530630 82530630 A G intronic EFTUD1 NA NA NA intronic ENSG00000140598 NA NA NA NA NA 15q25.2 NA NA NA NA rs1972460 0.35 0.35 0.36 0.353035 0.4573 0.1706 0.3343 0.3306 0.4775 0.46 0.18 0.36 0.35 0.4146 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907739 NA NA 0.442406 0.358465 NA 0.464 NA 2.685694 1383 17 48477257 48477257 G A intergenic LRRC59,ACSF2 dist=2343;dist=26262 NA NA intergenic ENSG00000253102,ENSG00000167107 dist=2008;dist=26262 NA NA NA NA 17q21.33 NA NA NA NA rs12450906 0.49 0.49 0.469 0.483227 0.6481 0.2113 0.5908 0.4917 0.5061 0.65 0.21 0.59 0.5 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619462 NA NA NA NA NA 0.5 NA 2.6852334 1384 12 46601056 46601056 C T intronic SLC38A1 NA NA NA intronic ENSG00000111371 NA NA NA NA NA 12q13.11 NA NA NA NA rs2289768 0.5 0.5 0.513 0.49401 0.4334 0.3929 0.5231 0.677 0.3926 0.43 0.43 0.52 0.68 0.4535 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431046 NA NA 0.428694 0.632918 NA 0.623 NA 2.684406 1384 17 80706928 80706928 G A intronic FN3K NA NA NA intronic ENSG00000167363 NA NA NA NA NA 17q25.3 NA NA NA NA rs2243416 0.66 0.66 0.648 0.687899 0.6342 0.6865 0.696 0.6846 0.7434 0.63 0.67 0.67 0.68 0.6819 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039671 NA NA NA NA NA 0.623 NA 2.6839 1384 11 19970579 19970579 C T exonic NAV2 NA synonymous SNV NAV2:NM_001111018:exon10:c.C2406T:p.D802D,NAV2:NM_145117:exon10:c.C2598T:p.D866D,NAV2:NM_182964:exon10:c.C2598T:p.D866D,NAV2:NM_001244963:exon11:c.C2667T:p.D889D exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000349880:exon10:c.C2598T:p.D866D,ENSG00000166833:ENST00000360655:exon10:c.C2406T:p.D802D,ENSG00000166833:ENST00000396085:exon10:c.C2598T:p.D866D,ENSG00000166833:ENST00000396087:exon11:c.C2667T:p.D889D,ENSG00000166833:ENST00000527559:exon12:c.C2454T:p.D818D,ENSG00000166833:ENST00000540292:exon12:c.C2460T:p.D820D NA NA 11p15.1 NA NA NA NA rs2707084 0.95 0.95 0.943 0.943091 0.999 1 0.9813 0.7958 0.999 1 1 0.99 0.8 0.9846 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.209044 NA NA 0.999185 0.843793 NA 0.935 NA 2.6838816 1384 22 30124614 30124614 A T intronic CABP7 NA NA NA intronic ENSG00000100314 NA NA NA NA NA 22q12.2 NA NA NA NA rs140096 0.48 0.48 0.499 0.405751 0.4652 0.5823 0.3112 0.4561 0.1616 0.47 0.59 0.35 0.47 0.3991 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153984 NA NA 0.451977 0.44099 NA 0.428 NA 2.683723 1384 4 73793490 73793490 T C intergenic ADAMTS3,COX18 dist=358974;dist=126926 NA NA intergenic ENSG00000270665,ENSG00000252955 dist=119581;dist=37405 NA NA NA NA 4q13.3 NA NA NA NA rs4566626 0.66 0.66 0.656 0.668331 0.6501 0.756 0.4395 0.6884 0.7321 0.67 0.74 0.51 0.69 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430588 NA NA NA NA NA 0.572 NA 2.6832334 1384 9 316998 316998 C T intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA NA NA rs2296824 0.44 0.44 0.444 0.433307 0.4274 0.1369 0.4899 0.7231 0.3129 0.45 0.14 0.51 0.71 0.427 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717592 NA NA 0.462442 0.678393 NA 0.587 NA 2.683158 1384 14 63269317 63269317 T C intronic KCNH5 NA NA NA intronic ENSG00000140015 NA NA NA NA NA 14q23.2 NA NA NA NA rs12588427 0.47 0.47 0.441 0.486621 0.4374 0.6875 0.5303 0.2557 0.6115 0.45 0.68 0.46 0.27 0.4656 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.502915 3.502915 NA 0.41407 0.29301 NA 0.29 NA 2.68293 1384 9 97873957 97873957 A G intronic FANCC NA NA NA intronic ENSG00000158169 NA NA NA NA NA 9q22.32 NA NA NA NA rs4647534 0.54 0.54 0.527 0.541334 0.4473 0.6339 0.5086 0.6044 0.4806 0.45 0.63 0.48 0.61 0.4738 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375894 NA NA 0.396279 0.595552 NA 0.507 NA 2.682621 1384 9 132377728 132377728 C T intronic C9orf50 NA NA NA intronic ENSG00000148335,ENSG00000179058 NA NA NA NA NA 9q34.11 NA NA NA NA rs918166 0.51 0.51 0.55 0.55651 0.4503 0.498 0.5202 0.7118 0.5419 0.43 0.5 0.51 0.67 0.4771 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416114 NA NA 0.39 0.667953 NA 0.638 NA 2.6826 1384 16 29993108 29993108 C G intronic TAOK2 NA NA NA intronic ENSG00000149930 NA NA NA NA NA 16p11.2 NA NA NA NA rs11642046 0.4 0.4 0.385 0.41893 0.4423 0.374 0.3429 0.407 0.5112 0.44 0.36 0.36 0.39 0.4291 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76205 NA NA 0.446047 0.415339 NA 0.406 NA 2.682553 1384 11 71551364 71551364 G A intergenic DEFB108B,LOC100133315 dist=2756;dist=25191 NA NA intergenic ENSG00000184276,ENSG00000252902 dist=2756;dist=4878 NA NA NA NA 11q13.4 NA NA NA NA rs12420318 0.51 0.51 0.463 0.501198 0.6511 0.4504 0.4337 0.348 0.6544 0.65 0.45 0.48 0.39 NA 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491172 NA NA NA NA NA 0.5 NA 2.6822334 1384 1 6145365 6145365 A G intronic KCNAB2 NA NA NA intronic ENSG00000069424 NA NA NA NA NA 1p36.31 NA NA NA NA rs2294936 0.72 0.72 0.681 0.686502 0.6551 0.7798 0.6571 0.7716 0.5286 0.65 0.77 0.7 0.76 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642501 NA NA 0.662791 0.767341 NA 0.688 NA 2.682109 1384 7 94038934 94038934 C T intronic COL1A2 NA NA NA intronic ENSG00000164692 NA NA NA NA NA 7q21.3 NA Name=Pol2 NA NA rs42518 0.86 0.86 0.867 0.828075 0.7724 0.9038 0.8401 0.9221 0.6718 0.78 0.94 0.82 0.91 0.7815 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.258363 NA NA 0.764651 0.89832 NA 0.833 NA 2.681449 1384 14 106232168 106232168 T G intergenic ELK2AP,KIAA0125 dist=93024;dist=151670 NA NA intergenic ENSG00000211896,ENSG00000211897 dist=22760;dist=3271 NA NA NA NA 14q32.33 NA NA NA NA rs7150765 0.38 0.38 0.35 0.384385 0.6521 0.0863 0.4366 0.3457 0.4315 0.6 0.11 0.44 0.29 NA 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561634 NA NA NA NA NA 0.413 NA 2.6812334 1384 19 54205961 54205961 T A upstream MIR518B NA NA NA upstream ENSG00000207862 NA NA NA NA NA 19q13.42 NA NA NA NA rs10414727 0.39 0.39 0.405 0.42512 0.3181 0.3601 0.3199 0.5915 0.4519 0.32 0.34 0.29 0.63 0.3477 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577823 NA NA 0.320491 0.567602 ID=COSN165941;OCCURENCE=1(breast) 0.413 NA 2.6803756 1384 21 47705237 47705237 T C upstream MCM3AP NA NA NA UTR5 ENSG00000160294 ENST00000397708:c.-37A>G,ENST00000426537:c.-37A>G NA NA NA NA 21q22.3 NA NA NA NA rs17176131 0.37 0.37 0.349 0.358427 0.4284 0.2837 0.5058 0.2852 0.3579 0.43 0.26 0.5 0.31 0.4326 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633545 NA NA 0.458808 0.325919 NA 0.254 NA 2.680192 1384 16 56868700 56868700 A G intronic NUP93 NA NA NA intronic ENSG00000102900 NA NA NA NA NA 16q13 NA NA NA NA rs1347591 0.52 0.52 0.515 0.541733 0.4046 0.6706 0.4899 0.5424 0.5859 0.39 0.69 0.49 0.53 0.4775 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.741671 3.741671 NA 0.438125 0.538899 NA 0.486 NA 2.679775 1384 1 86590915 86590915 G A exonic COL24A1 NA synonymous SNV COL24A1:NM_152890:exon3:c.C1104T:p.S368S exonic ENSG00000171502 NA synonymous SNV ENSG00000171502:ENST00000370571:exon3:c.C1104T:p.S368S,ENSG00000171502:ENST00000426639:exon3:c.C1104T:p.S368S,ENSG00000171502:ENST00000436319:exon3:c.C1104T:p.S368S NA NA 1p22.3 NA NA NA NA rs2174767 0.96 0.96 0.957 0.964457 0.999 0.9722 0.987 0.8941 1 1 0.97 0.99 0.89 0.9892 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.800185 NA NA 0.999272 0.92001 NA 0.957 NA 2.6791946 1384 12 64011062 64011062 A G intronic DPY19L2 NA NA NA intronic ENSG00000177990 NA NA NA NA NA 12q14.2 NA NA NA NA rs4105524 0.41 0.41 0.408 0.407348 0.3966 0.4067 0.3905 0.3691 0.4826 0.41 0.45 0.41 0.37 0.4837 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639081 NA NA 0.440696 0.386964 NA 0.333 NA 2.679004 1384 6 29523646 29523646 G C UTR3 UBD NM_006398:c.*11C>G NA NA UTR3 ENSG00000204681,ENSG00000213886 ENST00000355973:c.*484C>G;ENST00000377050:c.*11C>G NA NA NA NA 6p22.1 NA NA NA NA rs444013 0.65 0.65 0.619 0.709065 0.5129 0.7669 0.647 0.764 0.8211 0.52 0.71 0.61 0.79 0.6197 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436801 NA NA 0.522518 0.725678 NA 0.609 NA 2.6782154 1384 20 25261784 25261784 G A intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2261747 0.53 0.53 0.516 0.514976 0.4314 0.9107 0.3415 0.3729 0.5082 0.43 0.92 0.34 0.36 0.4552 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048638 NA NA 0.435349 0.366319 NA 0.449 NA 2.678051 1384 5 150565724 150565724 C T intronic CCDC69 NA NA NA intronic ENSG00000198624 NA NA NA NA NA 5q33.1 NA NA NA NA rs248426 0.43 0.43 0.42 0.408546 0.4423 0.3482 0.3991 0.4516 0.3845 0.45 0.36 0.42 0.49 0.428 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558615 NA NA 0.452209 0.462324 NA 0.413 NA 2.677491 1384 15 49083577 49083577 C T intronic CEP152 NA NA NA intronic ENSG00000103995 NA NA NA NA NA 15q21.1 NA NA NA NA rs58156069 0.38 0.38 0.386 0.344649 0.4652 0.3185 0.3804 0.2723 0.32 0.45 0.32 0.42 0.29 0.3975 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205458 NA NA 0.460074 0.306264 NA 0.391 NA 2.677226 1384 2 190617643 190617643 A G exonic OSGEPL1 NA synonymous SNV OSGEPL1:NM_022353:exon6:c.T1026C:p.N342N exonic ENSG00000128694 NA synonymous SNV ENSG00000128694:ENST00000264151:exon6:c.T1026C:p.N342N,ENSG00000128694:ENST00000522700:exon6:c.T1026C:p.N342N,ENSG00000128694:ENST00000519810:exon7:c.T1026C:p.N342N NA NA 2q32.2 NA NA NA NA rs2243876 0.97 0.97 0.973 0.970248 1 1 0.9942 0.8903 1 1 0.98 0.99 0.91 0.9908 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24269 NA NA 0.999515 0.900107 NA 0.978 NA 2.6763516 1384 9 119382768 119382768 A G intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs2295741 0.43 0.43 0.365 0.397564 0.4274 0.4633 0.5576 0.2821 0.3415 0.44 0.45 0.53 0.29 0.4471 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059749 NA NA 0.449186 0.298911 NA 0.304 NA 2.676314 1384 3 42019565 42019565 C T intergenic ULK4,TRAK1 dist=15905;dist=113181 NA NA downstream ENSG00000235339 NA NA NA NA NA 3p22.1 NA NA NA NA rs7634985 0.73 0.73 0.709 0.713858 0.8241 0.8522 0.8256 0.3782 0.8323 0.82 0.84 0.83 0.39 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.940432 NA NA NA NA NA 0.674 NA 2.6759 1384 14 22204568 22204568 G A intergenic OR4E2,DAD1 dist=70330;dist=829239 NA NA intronic ENSG00000211778 NA NA NA NA NA 14q11.2 NA NA NA NA rs2049788 0.27 0.27 0.258 0.275359 0.3439 0.1508 0.2767 0.2519 0.364 0.35 0.16 0.29 0.25 0.3235 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.380743 1.380743 NA 0.3236 0.280414 NA 0.283 NA 2.6756667 1384 20 25271086 25271086 T C intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2257432 0.55 0.55 0.543 0.536342 0.4314 0.9107 0.3473 0.4508 0.5082 0.44 0.93 0.35 0.44 0.4598 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554891 NA NA 0.433372 0.431003 NA 0.486 NA 2.675428 1385 7 132855307 132855307 A G intergenic CHCHD3,EXOC4 dist=88479;dist=82516 NA NA upstream ENSG00000237821 NA NA NA NA NA 7q33 NA NA NA NA rs11972453 0.86 0.86 0.814 0.88119 0.825 0.9365 0.8919 0.8411 0.9284 0.81 0.94 0.88 0.81 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565939 NA NA NA NA NA 0.841 NA 2.675 1385 15 41165739 41165739 A C intronic RHOV NA NA NA intronic ENSG00000104140 NA NA NA NA NA 15q15.1 NA Name=BAF155 NA NA rs1814692 0.8 0.8 0.775 0.807708 0.7614 0.8581 0.8199 0.8018 0.8027 0.76 0.87 0.8 0.78 0.8017 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802672 NA NA 0.761955 0.790618 NA 0.826 NA 2.674945 1385 10 129846010 129846010 G A intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA Name=Pol2,Pol2(b),ZNF263,Pol2-4H8 NA NA rs7911904 0.8 0.8 0.802 0.786941 0.7565 0.8264 0.8415 0.7481 0.7914 0.76 0.84 0.8 0.81 0.7855 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591203 NA NA 0.783488 0.762823 NA 0.688 NA 2.674512 1385 20 50224161 50224161 C T intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs2273089 0.43 0.43 0.417 0.442492 0.4374 0.2202 0.5778 0.6309 0.3262 0.43 0.26 0.53 0.57 0.4487 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501324 NA NA 0.439535 0.60236 NA 0.362 NA 2.674365 1385 4 39301605 39301605 G C intronic RFC1 NA NA NA intronic ENSG00000035928 NA NA NA NA NA 4p14 NA NA NA NA rs2066788 0.48 0.48 0.468 0.49401 0.4533 0.3819 0.3732 0.7874 0.3405 0.44 0.36 0.36 0.76 0.4398 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002738 NA NA 0.432907 0.71448 NA 0.514 NA 2.673993 1385 2 98887116 98887116 G C intronic VWA3B NA NA NA intronic ENSG00000168658 NA NA NA NA NA 2q11.2 NA NA NA NA rs4851955 0.39 0.39 0.341 0.330471 0.4563 0.2024 0.5043 0.3654 0.1626 0.48 0.23 0.49 0.37 0.4194 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.511456 NA NA 0.450689 0.37852 NA 0.442 NA 2.673611 1385 17 79249997 79249997 C T intronic SLC38A10 NA NA NA intronic ENSG00000157637 NA NA NA NA NA 17q25.3 NA NA NA NA rs9898133 0.43 0.43 0.419 0.427915 0.4374 0.1825 0.4092 0.7837 0.2035 0.43 0.19 0.38 0.75 0.465 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.809027 NA NA 0.424744 0.744986 NA 0.565 NA 2.672856 1385 11 22364758 22364758 C T intronic SLC17A6 NA NA NA intronic ENSG00000091664 NA NA NA NA NA 11p14.3 NA NA NA NA rs2278751 0.27 0.27 0.246 0.2502 0.4851 0.0516 0.2896 0.1513 0.319 0.48 0.05 0.36 0.14 0.3724 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.57414 1.57414 NA 0.469651 0.200862 NA 0.333 NA 2.672849 1385 15 60678328 60678328 C T intronic ANXA2 NA NA NA UTR5 ENSG00000182718 ENST00000560014:c.-54G>A NA NA NA NA 15q22.2 NA NA Name=7 NA rs11858864 0.83 0.83 0.805 0.838458 0.829 0.999 0.8689 0.6188 0.9581 0.83 1 0.86 0.61 0.8428 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822956 NA NA 0.822442 0.637767 NA 0.754 NA 2.6724247 1385 8 141774282 141774282 A C intronic PTK2 NA NA NA intronic ENSG00000169398 NA NA NA NA NA 8q24.3 NA NA NA NA rs7840381 0.46 0.46 0.418 0.458067 0.4284 0.5794 0.5994 0.2625 0.5276 0.42 0.65 0.53 0.27 0.4754 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701414 NA NA 0.423837 0.273264 NA 0.341 NA 2.672363 1385 4 57194525 57194525 C G UTR3 KIAA1211 NM_020722:c.*555C>G NA NA UTR3 ENSG00000109265 ENST00000504228:c.*555C>G NA NA NA NA 4q12 NA NA NA NA rs6834736 0.51 0.51 0.498 0.538538 0.5467 0.2867 0.6816 0.6225 0.5746 0.55 0.27 0.65 0.62 0.5503 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199789 NA NA 0.564289 0.583904 NA 0.514 NA 2.6720444 1385 7 134928033 134928033 G T intronic STRA8 NA NA NA intronic ENSG00000146857 NA NA NA NA NA 7q33 NA NA NA NA rs62481958 0.33 0.33 0.314 0.35603 0.4573 0.124 0.3963 0.2905 0.5511 0.46 0.12 0.39 0.32 0.42 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285122 NA NA 0.451047 0.316841 NA 0.42 NA 2.671653 1385 20 25262789 25262789 T C intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2261790 0.55 0.55 0.512 0.536741 0.4334 0.9107 0.3473 0.4508 0.5082 0.44 0.93 0.35 0.44 0.463 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303046 NA NA 0.431961 0.424648 NA 0.457 NA 2.671639 1385 9 127083725 127083725 C T intronic NEK6 NA NA NA intronic ENSG00000119408 NA NA NA NA NA 9q33.3 NA NA NA NA rs10760352 0.53 0.53 0.515 0.551518 0.4115 0.6756 0.4568 0.5787 0.5982 0.41 0.68 0.48 0.57 0.4851 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624739 NA NA 0.43186 0.562188 NA 0.493 NA 2.67154 1385 4 156283302 156283302 G A intronic MAP9 NA NA NA ncRNA_intronic ENSG00000250910 NA NA NA NA NA 4q32.1 NA NA NA NA rs6829123 0.67 0.67 0.678 0.653954 0.5557 0.7946 0.5346 0.7844 0.5184 0.57 0.8 0.53 0.78 0.5786 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.95455 NA NA 0.527681 0.72424 NA 0.572 NA 2.6713523 1385 4 6698706 6698706 A C exonic S100P NA synonymous SNV S100P:NM_005980:exon2:c.A225C:p.I75I exonic ENSG00000163993 NA synonymous SNV ENSG00000163993:ENST00000296370:exon2:c.A225C:p.I75I NA NA 4p16.1 NA NA NA NA rs11733989 0.99 0.99 0.99 0.984026 1 1 0.9885 0.9455 1 1 1 1 0.97 0.9957 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979522 NA NA 0.999767 0.952792 NA 0.986 NA 2.6711996 1385 9 130259618 130259618 A C intronic LRSAM1 NA NA NA intronic ENSG00000148356 NA NA NA NA NA 9q33.3 NA Name=Pol2(phosphoS2),E2F6 NA NA rs2248822 0.73 0.73 0.694 0.728834 0.7903 0.6935 0.8084 0.6324 0.7761 0.8 0.7 0.76 0.64 0.7744 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153273 NA NA 0.764767 0.687472 NA 0.79 NA 2.670533 1385 1 151396037 151396037 A C intronic POGZ NA NA NA intronic ENSG00000143442 NA NA NA Score=336;Name=lod=31 NA 1q21.3 NA NA NA NA rs2274534 0.49 0.49 0.489 0.490815 0.835 0.2113 0.464 0.3268 0.6656 0.84 0.18 0.52 0.29 0.6746 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364459 NA NA 0.82093 0.384703 NA 0.601 NA 2.66947 1385 10 72532238 72532238 T C intronic TBATA NA NA NA intronic ENSG00000166220 NA NA NA NA NA 10q22.1 NA NA NA NA rs2253801 0.44 0.44 0.417 0.448083 0.4473 0.3889 0.5548 0.4592 0.4192 0.43 0.4 0.54 0.44 0.4415 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879844 NA NA 0.441744 0.444167 NA 0.391 NA 2.669456 1385 17 74557681 74557681 A C ncRNA_intronic SNHG16 NA NA NA ncRNA_exonic ENSG00000163597 NA NA NA NA NA 17q25.1 NA NA Name=37 NA rs4510053 0.99 0.99 0.988 0.991613 1 1 1 0.9682 1 1 1 1 0.98 0.9979 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.858598 1.858598 NA 1 0.977169 NA 0.986 NA 2.6687666 1385 1 201336984 201336984 C T intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA NA NA 1q32.1 NA NA NA NA rs3729843 0.3 0.3 0.235 0.285543 0.4722 0.1815 0.4755 0.0212 0.4233 0.47 0.18 0.49 0.04 0.4128 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527389 NA NA 0.446628 0.093055 NA 0.239 NA 2.668372 1385 3 119533910 119533910 T C exonic NR1I2 NA synonymous SNV NR1I2:NM_003889:exon6:c.T879C:p.N293N,NR1I2:NM_022002:exon6:c.T996C:p.N332N,NR1I2:NM_033013:exon6:c.T768C:p.N256N exonic ENSG00000144852 NA synonymous SNV ENSG00000144852:ENST00000337940:exon6:c.T996C:p.N332N,ENSG00000144852:ENST00000393716:exon6:c.T879C:p.N293N,ENSG00000144852:ENST00000466380:exon6:c.T768C:p.N256N NA NA 3q13.33 NA NA NA NA rs4058490 1 1 1 0.999401 1 1 0.9971 1 0.999 1 1 1 1 0.9999 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354261 NA NA 0.999884 0.999092 NA 1 NA 2.6668826 1385 4 6698667 6698667 T C exonic S100P NA synonymous SNV S100P:NM_005980:exon2:c.T186C:p.D62D exonic ENSG00000163993 NA synonymous SNV ENSG00000163993:ENST00000296370:exon2:c.T186C:p.D62D NA NA 4p16.1 NA NA NA NA rs11734898 1 1 1 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.024025 NA NA 1 0.998638 NA 1 NA 2.6668666 1385 6 24460679 24460679 T C intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs2793434 0.38 0.38 0.402 0.39397 0.4324 0.3661 0.3862 0.3631 0.4305 0.42 0.35 0.38 0.37 0.4328 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642004 NA NA 0.468168 0.357197 NA 0.312 NA 2.666632 1385 22 51063987 51063987 G C intronic ARSA NA NA NA intronic ENSG00000100299 NA NA NA NA NA 22q13.33 NA NA NA NA rs762674 0.82 0.82 0.828 0.819089 0.7704 0.9752 0.8487 0.7118 0.8323 0.76 0.97 0.81 0.75 0.7977 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.506849 NA NA 0.765643 0.719246 NA 0.862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078938.1;CLNDSDB=.;CLNDSDBID=. 2.666257 1385 5 6605532 6605532 C A intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs2303707 0.68 0.68 NA 0.675319 0.673 0.6726 0.6182 0.739 0.635 0.66 0.67 0.65 0.76 0.6609 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361741 NA NA NA NA NA 0.674 NA 2.6661 1385 3 46753976 46753976 T C intronic PRSS50 NA NA NA intronic ENSG00000206549 NA NA NA NA NA 3p21.31 NA NA NA NA rs9815362 0.52 0.52 0.523 0.555711 0.4195 0.494 0.536 0.7738 0.4785 0.41 0.48 0.53 0.74 0.4806 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445386 NA NA 0.433837 0.701316 NA 0.5 NA 2.666063 1385 2 149853960 149853960 A G intronic KIF5C NA NA NA intronic ENSG00000168280 NA NA NA NA NA 2q23.1 NA NA NA NA rs6738277 0.59 0.59 0.606 0.631589 0.661 0.3056 0.6499 0.8238 0.6646 0.64 0.32 0.67 0.79 0.6731 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704672 NA NA NA NA NA 0.717 NA 2.6659 1385 5 150564975 150564975 T C intronic CCDC69 NA NA NA intronic ENSG00000198624 NA NA NA NA NA 5q33.1 NA NA NA NA rs248428 0.42 0.42 0.44 0.414736 0.4473 0.3502 0.3991 0.4516 0.409 0.45 0.35 0.42 0.47 0.4331 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019126 NA NA 0.453721 0.462551 NA 0.413 NA 2.665879 1385 3 48505964 48505964 C A intronic ATRIP NA NA NA intronic ENSG00000164053 NA NA NA NA NA 3p21.31 NA NA NA NA rs2242150 0.38 0.38 0.392 0.383586 0.4632 0.3135 0.3112 0.4697 0.3088 0.45 0.29 0.33 0.42 0.3998 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486613 NA NA 0.471163 0.465502 NA 0.471 NA 2.665837 1385 12 52660904 52660904 C T intergenic KRT7,KRT81 dist=18195;dist=18793 NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA NA NA NA rs2857686 0.48 0.48 0.508 0.498403 0.5139 0.2798 0.3732 0.7277 0.4867 0.51 0.28 0.37 0.73 0.4872 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451422 NA NA NA NA NA 0.536 NA 2.6655667 1385 1 230371883 230371883 G A intronic GALNT2 NA NA NA intronic ENSG00000143641 NA NA NA NA NA 1q42.13 NA NA NA NA rs3811488 0.67 0.67 0.681 0.68151 0.3986 0.8978 0.6758 0.8699 0.499 0.4 0.91 0.64 0.84 0.5219 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275047 NA NA 0.414186 0.787108 NA 0.71 NA 2.665314 1385 17 64050007 64050007 G A intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs11079637 0.53 0.53 0.489 0.536342 0.4374 0.875 0.6585 0.2315 0.6145 0.44 0.87 0.63 0.23 0.4924 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753519 NA NA 0.405116 0.258511 NA 0.478 NA 2.665084 1386 X 320580 320580 T C intronic PPP2R3B NA NA NA intronic ENSG00000167393 NA NA NA NA NA Xp22.33 NA NA NA NA rs6603251 0.7 0.7 0.67886 NA NA NA NA NA NA 0.67 0.62 0.69 0.84 0.6611 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.049575 NA NA 0.674033 0.835616 NA 0.71 NA 2.664867 1386 5 118968423 118968423 T G intronic FAM170A NA NA NA intronic ENSG00000164334 NA NA NA NA NA 5q23.1 NA NA NA NA rs328698 0.42 0.42 0.423 0.4377 0.4453 0.496 0.3804 0.3298 0.5562 0.42 0.52 0.39 0.33 0.4457 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212072 NA NA 0.444364 0.316615 NA 0.457 NA 2.664636 1386 3 125223456 125223456 C T intronic SNX4 NA NA NA intronic ENSG00000114520 NA NA NA NA NA 3q21.2 NA NA NA NA rs2076724 0.5 0.5 0.508 0.51877 0.4304 0.4127 0.5605 0.6551 0.5051 0.44 0.39 0.55 0.67 0.4738 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516084 NA NA 0.431279 0.623468 NA 0.572 NA 2.664521 1386 10 121571507 121571507 T C intronic INPP5F NA NA NA intronic ENSG00000198825 NA NA NA NA NA 10q26.11 NA NA NA NA rs3781503 0.38 0.38 0.349 0.442492 0.4463 0.2302 0.3617 0.4372 0.7219 0.45 0.21 0.39 0.47 0.4449 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412948 NA NA 0.444419 0.421925 NA 0.457 NA 2.664381 1386 4 69340500 69340500 A G intronic TMPRSS11E NA NA NA intronic ENSG00000087128 NA NA NA NA NA 4q13.2 NA NA NA NA rs2603187 0.56 0.56 0.594 0.584665 0.4433 0.7688 0.451 0.6021 0.6115 0.44 0.76 0.47 0.59 0.4777 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795282 NA NA 0.414844 0.536768 NA 0.659 NA 2.664156 1386 4 3255258 3255258 A G intronic MSANTD1 NA NA NA intronic ENSG00000188981 NA NA NA NA NA 4p16.3 NA NA NA NA rs2798227 0.35 0.35 0.291 0.299121 0.4841 0.3829 0.3573 0.0272 0.3487 0.49 0.41 0.36 0.04 0.4077 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035538 NA NA 0.44407 0.110304 NA 0.406 NA 2.66413 1386 3 184766392 184766392 G A intronic VPS8 NA NA NA intronic ENSG00000156931 NA NA NA NA NA 3q27.2 NA NA NA NA rs3821751 0.53 0.53 0.52 0.551717 0.4404 0.6667 0.4914 0.5454 0.5992 0.46 0.64 0.52 0.52 0.4757 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102281 NA NA 0.419966 0.522481 NA 0.543 NA 2.663934 1386 19 36582270 36582270 G A intronic WDR62 NA NA NA intronic ENSG00000075702 NA NA NA NA NA 19q13.12 NA NA NA NA rs2301736 0.47 0.47 0.44 0.41254 0.4493 0.5774 0.5562 0.2716 0.2935 0.46 0.6 0.51 0.31 0.4329 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944526 NA NA 0.453953 0.295733 NA 0.254 NA 2.663847 1386 1 229452387 229452387 C T intergenic RAB4A,CCSAP dist=10747;dist=4365 NA NA intergenic ENSG00000168118,ENSG00000237481 dist=10746;dist=2763 NA NA NA NA 1q42.13 NA NA NA NA rs237819 0.64 0.64 0.627 0.607029 0.67 0.495 0.6441 0.7209 0.4775 0.66 0.53 0.65 0.71 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110198 NA NA NA NA NA 0.746 NA 2.6633334 1386 8 120847123 120847123 C T UTR3 DSCC1 NM_024094:c.*10G>A NA NA UTR3 ENSG00000136982 ENST00000313655:c.*10G>A NA NA NA NA 8q24.12 NA NA NA NA rs1055131 0.56 0.56 0.547 0.524161 0.5507 0.4296 0.6571 0.5991 0.3988 0.56 0.42 0.64 0.65 0.5571 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433242 NA NA 0.562689 0.605084 ID=COSN168410;OCCURENCE=1(large_intestine) 0.703 NA 2.6628444 1386 17 80895253 80895253 G A intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA NA NA NA rs8079398 0.57 0.57 0.594 0.620407 0.4374 0.5764 0.4092 0.8676 0.6697 0.42 0.56 0.45 0.88 0.4761 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.517489 NA NA 0.423874 0.814661 NA 0.681 NA 2.662626 1386 15 74000839 74000839 G A intronic CD276 NA NA NA intronic ENSG00000103855 NA NA NA NA NA 15q24.1 NA NA NA NA rs2291011 0.36 0.36 0.334 0.323482 0.4632 0.3274 0.3963 0.1422 0.3691 0.47 0.36 0.41 0.14 0.4265 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134557 NA NA 0.447754 0.179254 NA 0.333 NA 2.662546 1386 19 1059004 1059004 A G intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA NA NA NA rs2279796 0.54 0.54 0.553 0.574681 0.4245 0.3641 0.4784 0.9554 0.5 0.44 0.39 0.49 0.92 0.4856 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.729013 1.729013 NA 0.427558 0.868529 NA 0.464 NA 2.662342 1386 21 32525345 32525345 G A intronic TIAM1 NA NA NA intronic ENSG00000156299 NA NA NA NA NA 21q22.11 NA NA NA NA rs723469 0.46 0.46 0.46 0.474042 0.4404 0.4266 0.5447 0.4652 0.5194 0.46 0.4 0.53 0.5 0.4535 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190704 NA NA 0.443837 0.453246 NA 0.413 NA 2.662263 1386 2 113942903 113942903 A C intronic PSD4 NA NA NA intronic ENSG00000125637 NA NA NA NA NA 2q13 NA NA NA NA rs1975535 0.58 0.58 0.58 0.573882 0.4423 0.5972 0.5159 0.7383 0.5041 0.46 0.61 0.53 0.75 0.4872 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751698 NA NA 0.408605 0.687926 NA 0.609 NA 2.661895 1386 6 139487394 139487394 T C intronic HECA NA NA NA ncRNA_exonic ENSG00000231329 NA NA NA NA NA 6q24.1 NA NA NA NA rs7768941 0.43 0.43 0.426 0.420927 0.5984 0.0595 0.4553 0.5817 0.3691 0.59 0.04 0.51 0.6 0.5046 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.945244 1.945244 NA 0.568504 0.565849 NA 0.558 NA 2.6618293 1386 4 156276841 156276841 T C intronic MAP9 NA NA NA ncRNA_intronic ENSG00000250910 NA NA NA NA NA 4q32.1 NA NA NA NA rs6834126 0.67 0.67 0.674 0.654153 0.5557 0.7946 0.5346 0.7844 0.5194 0.57 0.8 0.53 0.78 0.5892 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017493 NA NA 0.52675 0.723535 NA 0.623 NA 2.6616833 1386 11 18456235 18456235 A T intronic LDHC NA NA NA intronic ENSG00000166796 NA NA NA NA NA 11p15.1 NA NA NA NA rs4757664 0.59 0.59 0.393 0.621406 0.7266 0.6091 0.7233 0.3797 0.7802 0.69 0.58 0.68 0.39 NA 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043757 NA NA 0.612147 0.324541 NA 0.435 NA 2.661253 1386 17 8647931 8647931 G C UTR5 CCDC42 NM_144681:c.-4C>G,NM_001158261:c.-4C>G NA NA UTR5 ENSG00000161973 ENST00000293845:c.-4C>G,ENST00000539522:c.-4C>G,ENST00000581598:c.-4C>G NA NA NA NA 17p13.1 NA NA NA NA rs10852904 0.51 0.51 0.475 0.498602 0.5557 0.6091 0.647 0.2368 0.5746 0.56 0.58 0.61 0.3 0.5619 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.646358 1.646358 NA 0.554535 0.286428 NA 0.413 NA 2.6611984 1386 20 25259807 25259807 G A intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs2261115 0.53 0.53 0.542 0.513379 0.4324 0.9107 0.3401 0.3661 0.5092 0.44 0.93 0.34 0.37 0.4715 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.002167 NA NA 0.435 0.363595 NA 0.449 NA 2.6611 1386 10 96014622 96014622 C G intronic PLCE1 NA NA NA intronic ENSG00000138193 NA NA NA NA NA 10q23.33 NA NA NA NA rs10786156 0.47 0.47 0.487 0.485224 0.4573 0.5357 0.3473 0.59 0.4182 0.43 0.49 0.37 0.57 0.4375 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389252 NA NA 0.444134 0.54661 NA 0.5 NA 2.661066 1386 20 44517360 44517360 T C ncRNA_exonic NEURL2 NA NA NA UTR3 ENSG00000124257 ENST00000545238:c.*123A>G,ENST00000372518:c.*37A>G NA NA NA NA 20q13.12 NA NA NA NA rs1516580 0.61 0.61 0.59 0.616014 0.6083 0.6746 0.7363 0.5681 0.5429 0.62 0.65 0.68 0.5 0.6267 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052213 NA NA 0.60407 0.592828 NA 0.623 NA 2.66093 1386 3 10302369 10302369 T C intronic TATDN2 NA NA NA intronic ENSG00000157014,ENSG00000272410 NA NA NA NA NA 3p25.3 NA NA NA NA rs451952 0.56 0.56 0.557 0.596246 0.4304 0.9643 0.4207 0.3737 0.8129 0.41 0.98 0.43 0.4 0.5108 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040381 NA NA 0.398038 0.367473 NA 0.58 NA 2.660762 1386 10 5926079 5926079 A C intronic ANKRD16 NA NA NA intronic ENSG00000134461 NA NA NA NA NA 10p15.1 NA NA NA NA rs3750657 0.37 0.37 0.412 0.398562 0.4801 0.1895 0.3487 0.6089 0.2812 0.43 0.14 0.39 0.51 0.4329 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453091 NA NA 0.426279 0.511348 ID=COSN163539;OCCURENCE=1(breast) NA NA 2.660721 1386 5 167182055 167182055 G A intronic TENM2 NA NA NA UTR5 ENSG00000145934 ENST00000519204:c.-4G>A,ENST00000520394:c.-4G>A NA NA NA NA 5q34 NA Name=ZNF263 NA NA rs1862875 0.78 0.78 0.739 0.746406 0.83 0.995 0.8689 0.3404 0.8661 0.85 1 0.85 0.36 0.8252 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178317 NA NA 0.850917 0.456954 NA 0.674 NA 2.6605497 1386 20 43034660 43034660 T C intronic HNF4A NA NA NA intronic ENSG00000101076 NA NA NA NA NA 20q13.12 NA NA NA NA rs736824 0.52 0.52 0.514 0.554712 0.4066 0.7778 0.4669 0.4395 0.6953 0.43 0.76 0.42 0.46 0.5017 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748635 NA NA 0.431279 0.445529 NA 0.464 NA 2.660421 1386 2 108863650 108863650 A C upstream SULT1C3 NA NA NA upstream ENSG00000196228 NA NA NA NA NA 2q12.3 NA NA NA NA rs9646947 0.19 0.19 0.164 0.215056 0.3588 0.1032 0.2579 0.0257 0.408 0.35 0.08 0.26 0.03 0.305 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538043 NA NA 0.342558 0.081026 NA 0.246 NA 2.6603086 1386 12 55790117 55790117 A T intergenic OR6C75,OR6C65 dist=30284;dist=4196 NA NA upstream ENSG00000257414 NA NA NA NA NA 12q13.2 NA NA NA NA rs6581039 0.78 0.78 0.735 0.780551 0.841 0.9266 0.8746 0.4879 0.8967 0.84 0.91 0.87 0.48 NA 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.555824 NA NA NA NA NA 0.681 NA 2.659 1386 17 41154817 41154817 A C intronic RPL27 NA NA NA intronic ENSG00000131469 NA NA NA NA NA 17q21.31 NA Name=Pol2-4H8,CTCF_(SC-5916) NA NA rs11871636 0.79 0.79 0.792 0.749002 0.7664 0.8472 0.7968 0.6581 0.7188 0.77 0.87 0.77 0.72 0.7815 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056727 NA NA 0.793372 0.67862 NA 0.797 NA 2.658728 1386 2 69420596 69420596 T C intronic ANTXR1 NA NA NA intronic ENSG00000169604 NA NA NA NA NA 2p13.3 NA NA NA NA rs7584057 0.61 0.61 0.3 0.712061 0.4851 0.8958 0.5447 0.8722 0.6585 0.44 0.8 0.5 0.72 0.5512 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854408 NA NA 0.305 0.674989 NA 0.094 NA 2.6587 1386 2 10126416 10126416 A G intronic GRHL1 NA NA NA intronic ENSG00000134317 NA NA NA NA NA 2p25.1 NA NA NA NA rs16867274 0.5 0.5 0.472 0.502396 0.4384 0.4008 0.6196 0.6884 0.3384 0.42 0.37 0.61 0.69 0.4721 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195978 NA NA 0.430814 0.657286 NA 0.442 NA 2.658686 1386 12 21627745 21627745 A G intronic RECQL NA NA NA intronic ENSG00000004700 NA NA NA NA NA 12p12.1 NA NA NA NA rs2159943 0.38 0.38 0.36 0.363219 0.4742 0.4544 0.4063 0.084 0.502 0.47 0.46 0.43 0.12 0.4279 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393001 NA NA 0.439274 0.139809 NA 0.217 NA 2.658626 1386 5 137281708 137281708 A C intronic FAM13B NA NA NA intronic ENSG00000031003 NA NA NA NA NA 5q31.2 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs1125979 0.78 0.78 0.782 0.789736 0.7634 0.9712 0.7767 0.5938 0.9039 0.77 0.97 0.73 0.61 0.7964 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.255355 3.255355 NA 0.782093 0.625965 NA 0.717 NA 2.658107 1386 8 143921812 143921812 A G intronic GML NA NA NA intronic ENSG00000104499 NA NA NA NA NA 8q24.3 NA NA NA NA rs3750247 0.42 0.42 0.409 0.429313 0.4771 0.376 0.4813 0.3933 0.4468 0.46 0.38 0.42 0.4 0.4336 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730219 NA NA 0.431395 0.413981 NA 0.435 NA 2.657905 1386 1 19199473 19199473 T A intronic ALDH4A1 NA NA NA intronic ENSG00000159423,ENSG00000255275 NA NA NA NA NA 1p36.13 NA NA NA NA rs28700162 0.46 0.46 0.426 0.471446 0.4513 0.6558 0.5519 0.1989 0.6135 0.43 0.67 0.48 0.24 0.4647 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440709 NA NA 0.427326 0.252837 NA 0.471 NA 2.656674 1386 10 5926080 5926080 T C intronic ANKRD16 NA NA NA intronic ENSG00000134461 NA NA NA NA NA 10p15.1 NA NA NA NA rs3750658 0.37 0.37 0.41 0.398562 0.4801 0.1895 0.3487 0.6089 0.2812 0.43 0.14 0.39 0.52 0.4332 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053645 NA NA 0.43093 0.519519 ID=COSN163540;OCCURENCE=1(NS) NA NA 2.65577 1386 8 22020066 22020066 T C intronic SFTPC NA NA NA intronic ENSG00000168484 NA NA NA NA NA 8p21.3 NA NA NA NA rs13248346 0.57 0.57 0.537 0.594848 0.4264 0.7599 0.5274 0.6899 0.5174 0.43 0.71 0.51 0.67 0.4934 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037617 NA NA 0.424964 0.600723 NA 0.536 NA 2.655236 1387 7 140051063 140051063 C T intronic SLC37A3 NA NA NA intronic ENSG00000157800 NA NA NA NA NA 7q34 NA NA NA NA rs12703774 0.4 0.4 0.372 0.385383 0.4553 0.4147 0.3703 0.3033 0.4049 0.46 0.4 0.4 0.31 0.4327 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25604 NA NA 0.457326 0.328643 ID=COSM150402;OCCURENCE=1(stomach) 0.457 NA 2.654674 1387 17 64001925 64001925 G A intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs1015098 0.54 0.54 0.512 0.536342 0.4374 0.875 0.6585 0.2322 0.6135 0.44 0.87 0.63 0.24 0.4984 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.283014 4.283014 NA 0.409916 0.267833 NA 0.457 NA 2.654284 1387 5 108719151 108719151 G A UTR5 PJA2 NM_014819:c.-17C>T NA NA UTR5 ENSG00000198961 ENST00000361189:c.-17C>T,ENST00000361557:c.-17C>T NA NA NA NA 5q21.3 NA NA NA NA rs1045704 0.31 0.31 0.283 0.319688 0.5905 0.0565 0.4669 0.0643 0.5532 0.59 0.04 0.46 0.08 0.4965 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.182173 NA NA 0.592326 0.156449 NA 0.377 NA 2.6540074 1387 11 5603163 5603163 G A downstream OR52B6 NA NA NA ncRNA_intronic ENSG00000239920 NA NA NA NA NA 11p15.4 NA NA NA NA rs10838377 0.69 0.69 0.7 0.716853 0.4761 0.9802 0.67 0.7413 0.6933 0.47 0.97 0.63 0.72 0.5679 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.010261 NA NA 0.468926 0.704472 NA 0.623 NA 2.6537406 1387 9 116822610 116822610 A G intronic AMBP NA NA NA intronic ENSG00000106927 NA NA NA NA NA 9q32 NA NA NA NA rs2269456 0.63 0.63 0.632 0.636382 0.673 0.3661 0.5965 0.8585 0.6053 0.66 0.37 0.63 0.87 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839221 NA NA 0.673476 0.816474 NA 0.659 NA 2.653524 1387 20 18460641 18460641 G A intronic POLR3F NA NA NA intronic ENSG00000132664 NA NA NA NA NA 20p11.23 NA NA NA NA rs6081160 0.35 0.35 0.331 0.365615 0.4473 0.4315 0.3415 0.1982 0.4571 0.44 0.37 0.33 0.2 0.4299 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.272044 NA NA 0.469651 0.241943 NA 0.268 NA 2.653149 1387 9 123943884 123943884 C T intronic RAB14 NA NA NA intronic ENSG00000119396 NA NA NA NA NA 9q33.2 NA NA NA NA rs2296078 0.41 0.41 0.373 0.420128 0.4503 0.5665 0.4899 0.0855 0.6411 0.46 0.59 0.49 0.09 0.4573 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.524289 NA NA 0.44 0.138675 NA 0.37 NA 2.6524 1387 6 70856536 70856536 C T intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs7762409 0.46 0.46 0.444 0.496006 0.4553 0.3115 0.4769 0.6573 0.5235 0.44 0.33 0.45 0.66 0.4594 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208515 NA NA 0.434165 0.6125 NA 0.37 NA 2.651135 1387 22 19220648 19220648 G T intronic CLTCL1 NA NA NA intronic ENSG00000070371 NA NA NA NA NA 22q11.21 NA NA NA NA rs807458 0.31 0.31 0.287 0.320687 0.4553 0.2758 0.3919 0.0507 0.5429 0.48 0.25 0.38 0.06 0.4146 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.372757 NA NA 0.479455 0.118297 NA 0.217 NA 2.650645 1387 6 70854183 70854183 A G intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs9364074 0.45 0.45 0.45 0.478834 0.4553 0.3115 0.4741 0.5938 0.5235 0.44 0.33 0.44 0.59 0.454 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639684 NA NA 0.440116 0.581934 NA 0.514 NA 2.650584 1387 12 56814570 56814570 T G intronic TIMELESS NA NA NA intronic ENSG00000111602 NA NA NA NA NA 12q13.3 NA NA NA NA rs812279 0.52 0.52 0.47 0.525359 0.4334 0.7341 0.5965 0.4312 0.4816 0.44 0.69 0.56 0.44 0.4783 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.971612 NA NA 0.438023 0.410803 NA 0.435 NA 2.650277 1387 8 30554006 30554006 G A intronic GSR NA NA NA intronic ENSG00000104687 NA NA NA NA NA 8p12 NA NA NA NA rs8190996 0.43 0.43 0.389 0.423922 0.4483 0.4851 0.487 0.289 0.4734 0.47 0.49 0.49 0.27 0.4494 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054809 NA NA 0.452558 0.312528 NA 0.42 NA 2.649742 1387 4 960713 960713 G A intronic DGKQ NA NA NA intronic ENSG00000145214 NA NA NA NA NA 4p16.3 NA NA NA NA rs4690196 0.39 0.39 0.355 0.341853 0.4483 0.3423 0.5375 0.1513 0.3507 0.45 0.36 0.54 0.21 0.4543 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306084 NA NA 0.448006 0.191822 NA 0.348 NA 2.649394 1387 2 170505684 170505684 G A intronic CCDC173 NA NA NA intronic ENSG00000154479 NA NA NA NA NA 2q31.1 NA NA NA NA rs3213946 0.39 0.39 0.396 0.401158 0.4195 0.2093 0.2997 0.6165 0.3609 0.42 0.19 0.34 0.58 0.4935 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116707 NA NA 0.437868 0.57127 NA 0.464 NA 2.649132 1387 19 1147431 1147431 T C intronic SBNO2 NA NA NA intronic ENSG00000064932 NA NA NA NA NA 19p13.3 NA NA NA NA rs56808651 0.48 0.48 0.396 0.458866 0.5089 0.5982 0.4078 0.326 0.4796 0.51 0.61 0.46 0.3 0.3585 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387263 NA NA 0.483635 0.317825 NA 0.196 NA 2.648965 1387 10 15713541 15713541 T C intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs6602051 0.63 0.63 0.653 0.655351 0.67 0.7143 0.5591 0.5356 0.8098 0.67 0.7 0.57 0.53 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566769 NA NA 0.681332 0.566474 NA 0.623 NA 2.648668 1387 6 145114935 145114935 A G intronic UTRN NA NA NA intronic ENSG00000152818 NA NA NA NA NA 6q24.2 NA NA NA NA rs4243475 0.66 0.66 0.674 0.686502 0.4056 0.8938 0.6599 0.7882 0.6431 0.4 0.91 0.64 0.79 0.5357 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757553 NA NA 0.410116 0.726509 NA 0.529 NA 2.648584 1387 6 110714584 110714584 A T intronic DDO NA NA NA intronic ENSG00000203797 NA NA NA NA NA 6q21 NA NA NA NA rs2235989 0.46 0.46 0.458 0.468251 0.4642 0.4266 0.4597 0.5424 0.4213 0.47 0.38 0.43 0.57 0.4518 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221701 NA NA 0.435799 0.528156 NA 0.42 NA 2.648201 1387 12 31301888 31301888 T C intergenic DDX11,FAM60A dist=44163;dist=131632 NA NA ncRNA_exonic ENSG00000177359 NA NA NA NA NA 12p11.21 NA NA NA NA rs11051274 0.31 0.31 0.261 0.334265 0.4433 0.256 0.2723 0.3086 0.3814 0.42 0.24 0.28 0.25 0.477 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037738 NA 0.25 0.432579 0.286667 NA 0.196 NA 2.647121 1387 7 133989543 133989543 A G intronic SLC35B4 NA NA NA intronic ENSG00000205060 NA NA NA NA NA 7q33 NA NA NA NA rs447266 0.42 0.42 0.385 0.450479 0.4493 0.2708 0.5692 0.4554 0.546 0.46 0.27 0.54 0.42 0.4533 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212177 NA NA 0.450814 0.466863 NA 0.384 NA 2.646586 1387 11 113211370 113211370 T G intronic TTC12 NA NA NA intronic ENSG00000149292 NA NA NA NA NA 11q23.2 NA NA NA NA rs10891537 0.26 0.26 0.248 0.226038 0.4851 0.0536 0.2954 0.0734 0.2945 0.48 0.05 0.36 0.08 0.3815 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036165 NA NA 0.486848 0.136756 NA 0.174 NA 2.646552 1387 6 159191788 159191788 C T intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA NA NA NA rs3212308 0.33 0.33 0.313 0.33127 0.4712 0.1935 0.2608 0.2829 0.4448 0.47 0.16 0.32 0.29 0.4051 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20356 NA NA 0.477326 0.325011 NA 0.312 NA 2.646374 1387 6 36712962 36712962 C T intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs743870 0.41 0.41 0.437 0.39996 0.4503 0.3889 0.2695 0.4259 0.4172 0.47 0.41 0.31 0.4 0.4411 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121309 NA NA 0.462782 0.41103 NA 0.391 NA 2.645818 1387 8 97256341 97256341 T A intronic MTERFD1 NA NA NA intronic ENSG00000156469 NA NA NA NA NA 8q22.1 NA NA NA NA rs6993518 0.39 0.39 0.395 0.379992 0.4423 0.1815 0.3501 0.5378 0.3282 0.46 0.2 0.33 0.52 0.441 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672067 NA NA 0.471395 0.541307 NA 0.464 NA 2.645305 1387 16 72146441 72146441 C G UTR3 DHX38 NM_014003:c.*45C>G NA NA UTR3 ENSG00000118557,ENSG00000140829 ENST00000537792:c.*219G>C;ENST00000268482:c.*45C>G,ENST00000536867:c.*45C>G,ENST00000579387:c.*1244C>G,ENST00000563819:c.*45C>G NA NA NA NA 16q22.2 NA NA NA NA rs7940 0.55 0.55 0.6 0.589457 0.5487 0.376 0.415 0.8139 0.6718 0.55 0.39 0.44 0.81 0.5641 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994432 NA NA 0.575465 0.759782 NA 0.638 NA 2.6450684 1387 5 49698180 49698180 G A intronic EMB NA NA NA intronic ENSG00000170571 NA NA NA NA NA 5q11.1 NA NA NA NA rs13172025 0.43 0.43 0.465 0.518171 0.4443 0.4831 0.4135 0.6891 0.4734 0.38 0.43 0.41 0.52 0.4569 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048041 NA NA 0.453762 0.639773 NA 0.471 NA 2.645038 1387 2 234916831 234916831 A G intronic TRPM8 NA NA NA intronic ENSG00000144481 NA NA NA NA NA 2q37.1 NA NA NA NA rs6734618 0.77 0.77 0.761 0.754992 0.669 0.8075 0.7911 0.8555 0.6278 0.67 0.84 0.76 0.86 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354338 NA NA 0.685966 0.812861 NA 0.594 NA 2.645034 1387 19 5265222 5265222 G A intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807703 0.5 0.5 0.451 0.458666 0.4314 0.7937 0.5576 0.1906 0.4335 0.44 0.77 0.57 0.21 0.463 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72372 NA NA 0.460581 0.24512 NA 0.399 NA 2.645019 1387 5 36142589 36142589 T A intronic LMBRD2 NA NA NA intronic ENSG00000164187 NA NA NA NA NA 5p13.2 NA NA NA NA rs267764 0.44 0.44 0.358 0.468051 0.4742 0.3542 0.4049 0.6808 0.3364 0.45 0.31 0.38 0.6 0.463 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132273 NA NA 0.417791 0.57626 NA 0.167 NA 2.645009 1388 8 145620296 145620296 C G intronic CPSF1 NA NA NA intronic ENSG00000071894 NA NA NA NA NA 8q24.3 NA NA NA NA rs2280837 0.51 0.51 0.468 0.548123 0.4274 0.6706 0.536 0.4902 0.6329 0.41 0.65 0.52 0.48 0.4989 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.893234 NA NA 0.428821 0.480009 NA 0.471 NA 2.644879 1388 7 47884555 47884555 A G intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs13237611 0.45 0.45 0.459 0.444688 0.4374 0.6548 0.4121 0.2375 0.5389 0.44 0.68 0.37 0.26 0.4503 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203306 NA NA 0.467442 0.270086 NA 0.529 NA 2.644858 1388 9 90342675 90342675 C T intronic CTSL1 NA NA NA intronic ENSG00000135047 NA NA NA NA NA 9q21.33 NA NA NA NA rs2274611 0.44 0.44 0.432 0.449081 0.4592 0.3363 0.4135 0.5567 0.4346 0.47 0.33 0.41 0.53 0.449 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428674 NA NA 0.447442 0.549024 NA 0.428 NA 2.644358 1388 14 74874540 74874540 A G intronic SYNDIG1L NA NA NA intronic ENSG00000183379 NA NA NA NA NA 14q24.3 NA NA NA NA rs11621669 0.4 0.4 0.378 0.378994 0.4632 0.3889 0.3818 0.2806 0.4131 0.47 0.41 0.42 0.28 0.4332 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324241 1.324241 NA 0.459758 0.320763 ID=COSN164737;OCCURENCE=1(NS) 0.355 NA 2.643842 1388 4 156276317 156276317 A G intronic MAP9 NA NA NA ncRNA_intronic ENSG00000250910 NA NA NA NA NA 4q32.1 NA NA NA NA rs2880181 0.74 0.74 0.775 0.739816 0.5616 0.9266 0.5533 0.9546 0.5726 0.58 0.93 0.55 0.93 0.5908 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091979 NA NA 0.537294 0.890993 NA 0.623 NA 2.6436393 1388 17 37866005 37866005 C T intronic ERBB2 NA NA NA intronic ENSG00000141736 NA NA NA NA NA 17q12 NA NA NA NA rs1810132 0.59 0.59 0.603 0.583666 0.6889 0.4048 0.5476 0.5756 0.6963 0.7 0.48 0.57 0.55 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207758 NA NA 0.667505 0.562139 NA 0.63 NA 2.643595 1388 10 124331944 124331944 C T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2277229 0.7 0.7 0.664 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153426 NA NA 0.677561 0.636561 NA 0.739 NA 2.643539 1388 20 15480548 15480548 T A intronic MACROD2 NA NA NA intronic ENSG00000172264 NA NA NA NA NA 20p12.1 NA NA NA NA rs2145015 0.73 0.73 0.71 0.739018 0.6789 0.9127 0.7997 0.5953 0.773 0.69 0.92 0.75 0.54 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086119 NA NA 0.677561 0.601879 NA 0.601 NA 2.643539 1388 15 83521036 83521036 C T intronic HOMER2 NA NA NA intronic ENSG00000103942 NA NA NA NA NA 15q25.2 NA NA Name=60 NA rs1256429 0.85 0.85 0.874 0.826877 0.7813 0.8482 0.853 0.9508 0.6656 0.78 0.86 0.84 0.96 0.7929 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49715 NA NA 0.782281 0.922657 NA 0.87 NA 2.643519 1388 5 73091228 73091228 C T intronic ARHGEF28 NA NA NA intronic ENSG00000214944 NA NA NA NA NA 5q13.2 NA NA NA NA rs2973548 0.36 0.36 0.365 0.34984 0.4602 0.2768 0.3631 0.2935 0.3783 0.46 0.27 0.36 0.32 0.4304 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.077015 NA NA 0.465953 0.305465 ID=COSN167490;OCCURENCE=1(large_intestine),1(endometrium) 0.326 NA 2.643447 1388 18 3100429 3100429 G A intronic MYOM1 NA NA NA intronic ENSG00000101605 NA NA NA NA NA 18p11.31 NA NA NA NA rs7232329 0.36 0.36 0.334 0.348043 0.4692 0.3562 0.5331 0.1407 0.364 0.45 0.32 0.54 0.15 0.4422 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116097 NA NA 0.447023 0.196216 NA 0.457 NA 2.641577 1388 18 13072979 13072979 T C intronic CEP192 NA NA NA intronic ENSG00000101639 NA NA NA NA NA 18p11.21 NA NA NA NA rs1787013 0.46 0.46 0.466 0.440296 0.4583 0.3571 0.4553 0.5 0.4162 0.47 0.37 0.46 0.54 0.4512 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441503 1.441503 NA 0.449419 0.501362 NA 0.435 NA 2.641081 1388 19 41711815 41711815 G A intronic CYP2S1 NA NA NA intronic ENSG00000167600 NA NA NA NA NA 19q13.2 NA NA NA NA rs338585 0.53 0.53 0.566 0.548922 0.4404 0.5476 0.3285 0.795 0.4857 0.45 0.52 0.42 0.76 0.4769 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.894336 NA NA 0.441977 0.731502 NA 0.522 NA 2.640723 1388 1 206944233 206944233 A G intronic IL10 NA NA NA intronic ENSG00000136634 NA NA NA NA NA 1q32.1 NA Name=Pol2,Pol2-4H8,TBP NA NA rs1554286 0.62 0.62 0.583 0.591853 0.8151 0.3393 0.6931 0.5688 0.5818 0.82 0.34 0.69 0.58 0.7169 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.889303 1.889303 NA 0.827442 0.601453 NA 0.659 NA 2.640558 1388 12 125444975 125444975 T C intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs4765007 0.59 0.59 0.587 0.566494 0.4245 0.7639 0.4986 0.649 0.4458 0.43 0.79 0.52 0.66 0.4912 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701487 NA NA 0.443953 0.602814 NA 0.609 NA 2.640347 1388 19 50140246 50140246 C A intronic RRAS NA NA NA intronic ENSG00000126458 NA NA NA NA NA 19q13.33 NA NA NA NA rs1865076 0.77 0.77 0.746 0.738219 0.6978 0.8343 0.7954 0.7799 0.5838 0.7 0.86 0.75 0.78 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048676 NA NA 0.662162 0.763006 NA 0.783 NA 2.640038 1388 2 15427173 15427173 C T intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs4668892 0.65 0.65 0.689 0.667332 0.4215 0.8591 0.5389 0.8313 0.592 0.43 0.84 0.56 0.84 0.5089 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808518 NA NA 0.429767 0.741262 NA 0.717 NA 2.639833 1388 22 50693521 50693521 C T intronic MAPK12 NA NA NA intronic ENSG00000188130 NA NA NA NA NA 22q13.33 NA NA NA NA rs5771282 0.68 0.68 0.563 0.777157 0.659 0.7659 0.7622 0.8321 0.8466 0.61 0.71 0.69 0.76 0.7012 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677749 NA 1 NA NA NA 0.254 NA 2.6398 1388 3 45763635 45763635 A G intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2673062 0.57 0.57 0.553 0.545727 0.6839 0.3839 0.5706 0.6505 0.411 0.7 0.34 0.58 0.62 NA 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.737327 1.737327 NA 0.676304 0.654624 ID=COSN166855;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.507 NA 2.639796 1388 6 168316118 168316118 T G intronic MLLT4 NA NA NA intronic ENSG00000130396 NA NA NA NA NA 6q27 NA NA NA NA rs3213591 0.58 0.58 0.569 0.628195 0.4066 0.7956 0.5778 0.6808 0.6483 0.42 0.78 0.56 0.61 0.5271 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234475 NA NA 0.426512 0.63754 NA 0.536 NA 2.639788 1388 11 60107470 60107470 C A intronic MS4A6E NA NA NA intronic ENSG00000166926 NA NA NA NA NA 11q12.2 NA NA NA NA rs2289612 0.38 0.38 0.394 0.353834 0.4861 0.3948 0.281 0.2625 0.3507 0.48 0.39 0.31 0.27 0.4074 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.271289 NA NA 0.466977 0.284385 NA 0.493 NA 2.639523 1388 19 15233631 15233631 G A intronic ILVBL NA NA NA intronic ENSG00000105135 NA NA NA NA NA 19p13.12 NA NA NA NA rs2074266 0.46 0.46 0.45 0.449481 0.4404 0.5635 0.3746 0.3843 0.4826 0.45 0.56 0.39 0.41 0.4547 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.400031 NA NA 0.465698 0.390604 NA 0.37 NA 2.639202 1388 7 38268395 38268395 C T intronic STARD3NL NA NA NA intronic ENSG00000010270 NA NA NA NA NA 7p14.1 NA NA NA NA rs7795499 0.44 0.44 0.44 0.435703 0.4473 0.4812 0.4885 0.3192 0.4969 0.43 0.54 0.48 0.32 0.4598 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243806 NA NA 0.454524 0.345438 NA 0.377 NA 2.638376 1388 18 57136869 57136869 A G intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs632899 0.41 0.41 0.44 0.432308 0.4453 0.4266 0.3285 0.438 0.4908 0.44 0.42 0.32 0.42 0.453 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652533 NA NA 0.46407 0.437358 NA 0.442 NA 2.63763 1388 6 29682400 29682400 G A intergenic ZFP57,HLA-F dist=37469;dist=8717 NA NA intergenic ENSG00000233916,ENSG00000204642 dist=6076;dist=8152 NA NA NA NA 6p22.1 NA NA NA NA rs2524272 0.7 0.7 0.689 0.689297 0.6958 0.6915 0.7349 0.6876 0.6503 0.68 0.7 0.71 0.7 NA 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776506 NA NA NA NA NA 0.659 NA 2.6375334 1388 17 74090700 74090700 G A intronic EXOC7 NA NA NA intronic ENSG00000182473 NA NA NA NA NA 17q25.1 NA NA NA NA rs2250081 0.47 0.47 0.478 0.534345 0.4423 0.5169 0.3718 0.5946 0.681 0.44 0.47 0.36 0.61 0.4796 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628099 NA NA 0.440814 0.582615 NA 0.413 NA 2.637286 1388 12 131485025 131485025 A G intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs4759822 0.42 0.42 0.377 0.404752 0.4592 0.2381 0.3775 0.5764 0.3078 0.45 0.23 0.43 0.59 0.4255 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403263 NA NA 0.479186 0.55606 NA 0.413 NA 2.636114 1388 19 4498245 4498245 A G intronic HDGFRP2 NA NA NA intronic ENSG00000167674 NA NA NA NA NA 19p13.3 NA NA NA NA rs2288926 0.63 0.63 0.64 0.640775 0.6879 0.4385 0.7003 0.7897 0.5573 0.69 0.42 0.65 0.77 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.627969 NA NA 0.67599 0.770231 NA 0.71 NA 2.63611 1388 10 134997514 134997514 A G intronic KNDC1 NA NA NA intronic ENSG00000171798 NA NA NA NA NA 10q26.3 NA NA NA NA rs67800134 0.4 0.4 0.339 0.419329 0.4394 0.5823 0.3876 0.118 0.6605 0.46 0.59 0.37 0.11 0.4607 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722236 NA NA 0.464186 0.165456 NA 0.377 NA 2.635714 1389 19 46972967 46972967 G C intronic PNMAL1 NA NA NA intronic ENSG00000182013 NA NA NA NA NA 19q13.32 NA NA NA NA rs2288916 0.41 0.41 0.374 0.408147 0.4473 0.4444 0.5476 0.2133 0.4949 0.44 0.46 0.51 0.22 0.4718 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590111 NA NA 0.446744 0.233545 NA 0.391 NA 2.634156 1389 9 90313717 90313717 G T intronic DAPK1 NA NA NA intronic ENSG00000196730 NA NA NA NA NA 9q21.33 NA NA NA NA rs3128495 0.37 0.37 0.351 0.348842 0.4583 0.4167 0.5029 0.0522 0.4581 0.47 0.43 0.49 0.07 0.4502 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372748 NA NA 0.457447 0.116029 ID=COSM150630,COSM150629;OCCURENCE=1(stomach) 0.355 NA 2.634053 1389 3 69036707 69036707 G A intronic EOGT NA NA NA intronic ENSG00000163378 NA NA NA NA NA 3p14.1 NA NA NA NA rs4855542 0.38 0.38 0.372 0.360623 0.4642 0.1081 0.4424 0.4909 0.2802 0.45 0.12 0.44 0.51 0.4223 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.017007 NA NA 0.48 0.515207 NA 0.464 NA 2.6335 1389 7 97937258 97937258 T C intronic BAIAP2L1 NA NA NA intronic ENSG00000006453 NA NA NA NA NA 7q21.3 NA NA NA NA rs6465666 0.32 0.32 0.301 0.264177 0.4751 0.2629 0.3458 0.1399 0.1585 0.47 0.24 0.37 0.16 0.3896 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979484 NA NA 0.50186 0.20177 NA 0.232 NA 2.63344 1389 12 44926334 44926334 T A intronic NELL2 NA NA NA intronic ENSG00000184613 NA NA NA NA NA 12q12 NA NA NA NA rs2270479 0.42 0.42 0.39 0.430711 0.4245 0.6716 0.5202 0.1157 0.5511 0.41 0.66 0.49 0.13 0.4807 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763111 NA NA 0.461744 0.175443 NA 0.312 NA 2.633056 1389 6 152768796 152768796 T G intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs502268 0.57 0.57 0.601 0.597644 0.4493 0.752 0.3689 0.7663 0.5256 0.44 0.75 0.39 0.72 0.4841 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231789 NA NA 0.433822 0.702224 NA 0.594 NA 2.632778 1389 17 74085012 74085012 G A intronic EXOC7 NA NA NA intronic ENSG00000182473 NA NA NA NA NA 17q25.1 NA NA NA NA rs2084666 0.47 0.47 0.461 0.533746 0.4433 0.5169 0.3703 0.593 0.68 0.44 0.47 0.36 0.61 0.4836 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546359 NA NA 0.440814 0.579664 NA 0.391 NA 2.632286 1389 7 144703301 144703301 G A intergenic TPK1,CNTNAP2 dist=170155;dist=1110152 NA NA downstream ENSG00000236343 NA NA NA NA NA 7q35 NA NA NA NA rs7778697 0.25 0.25 0.249 0.230032 0.3101 0.249 0.1787 0.1982 0.2076 0.31 0.25 0.2 0.17 0.2624 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.145147 NA NA 0.295702 0.206958 NA 0.159 NA 2.631798 1389 1 150789961 150789961 A T intronic ARNT NA NA NA intronic ENSG00000143437 NA NA NA NA NA 1q21.3 NA NA NA NA rs3894771 0.5 0.5 0.524 0.513978 0.4264 0.505 0.4597 0.6082 0.5245 0.42 0.51 0.47 0.64 0.5154 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1392 NA NA 0.42656 0.711002 NA 0.283 NA 2.63164 1389 17 74094105 74094105 C G intronic EXOC7 NA NA NA intronic ENSG00000182473 NA NA NA NA NA 17q25.1 NA NA NA NA rs7208391 0.47 0.47 0.488 0.533946 0.4443 0.5129 0.3718 0.5938 0.682 0.44 0.47 0.36 0.61 0.4831 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268876 NA NA 0.441395 0.580572 NA 0.399 NA 2.631205 1389 19 58231807 58231807 A G UTR3 ZNF671 NM_024833:c.*42T>C NA NA UTR3 ENSG00000083814 ENST00000317398:c.*42T>C,ENST00000600125:c.*1806T>C,ENST00000335820:c.*42T>C,ENST00000601584:c.*1349T>C NA NA NA NA 19q13.43 NA NA NA NA rs2239986 0.71 0.71 0.723 0.684505 0.5835 0.7302 0.621 0.9592 0.4151 0.58 0.72 0.64 0.96 0.5829 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471409 NA 0 0.536628 0.896051 NA 0.696 NA 2.6303054 1389 19 11727503 11727503 T C intronic ZNF627 NA NA NA intronic ENSG00000198551 NA NA NA NA NA 19p13.2 NA NA NA NA rs4545929 0.38 0.38 0.343 0.384585 0.4344 0.3274 0.4856 0.2867 0.453 0.43 0.3 0.48 0.33 0.4644 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982078 NA NA 0.471977 0.308986 NA 0.486 NA 2.629223 1389 9 127255448 127255448 G A intronic NR5A1 NA NA NA intronic ENSG00000136931 NA NA NA NA NA 9q33.3 NA NA NA NA rs2297605 0.42 0.42 0.368 0.434305 0.4274 0.4861 0.6254 0.2065 0.5603 0.43 0.51 0.59 0.2 0.4862 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080524 NA NA 0.457412 0.22946 NA 0.428 NA 2.628988 1389 16 53476804 53476804 G A intronic RBL2 NA NA NA intronic ENSG00000103479 NA NA NA NA NA 16q12.2 NA NA NA NA rs17800577 0.39 0.39 0.405 0.427316 0.4592 0.1786 0.3718 0.5787 0.4857 0.45 0.15 0.41 0.58 0.4309 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.987882 NA NA 0.481163 0.558917 NA 0.507 NA 2.628737 1389 9 137672012 137672012 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs3124932 0.3 0.3 0.262 0.287939 0.494 0.0734 0.4697 0.0855 0.4417 0.49 0.07 0.47 0.12 0.4088 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015817 NA NA 0.468721 0.144122 ID=COSN168701;OCCURENCE=1(large_intestine) 0.254 NA 2.628479 1389 8 143310815 143310815 G A intronic TSNARE1 NA NA NA intronic ENSG00000171045 NA NA NA NA NA 8q24.3 NA NA NA NA rs11167136 0.49 0.49 0.482 0.535144 0.4314 0.495 0.5735 0.5681 0.6115 0.44 0.51 0.52 0.54 0.4966 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165811 NA NA 0.443605 0.530186 NA 0.609 NA 2.628395 1389 8 144643603 144643603 G A intronic GSDMD NA NA NA intronic ENSG00000104518 NA NA NA NA NA 8q24.3 NA NA NA NA rs2290414 0.49 0.49 0.462 0.498802 0.4304 0.5377 0.549 0.4297 0.5869 0.45 0.58 0.49 0.43 0.5003 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755034 NA NA 0.441094 0.462238 NA 0.449 NA 2.628206 1389 20 61527563 61527563 T C intronic DIDO1 NA NA NA intronic ENSG00000101191 NA NA NA NA NA 20q13.33 NA NA NA NA rs2013097 0.49 0.49 0.486 0.503994 0.4334 0.622 0.5144 0.4357 0.5399 0.41 0.61 0.54 0.42 0.4776 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735431 NA NA 0.46093 0.423967 NA 0.377 NA 2.62807 1389 21 47558586 47558586 A G intronic FTCD NA NA NA intronic ENSG00000160282 NA NA NA NA NA 21q22.3 NA NA NA NA rs60525628 0.39 0.39 0.373 0.444289 0.4841 0.2202 0.2997 0.593 0.5358 0.46 0.2 0.33 0.55 0.4464 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122498 NA NA 0.441798 0.575308 NA 0.558 NA 2.627702 1389 18 6947143 6947143 A C intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs2155697 0.37 0.37 0.361 0.31889 0.4781 0.2113 0.304 0.3207 0.274 0.48 0.22 0.36 0.36 0.4116 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057622 NA NA 0.482907 0.355197 NA 0.326 NA 2.627393 1389 20 61458547 61458547 A T intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA NA NA NA rs2249766 0.61 0.61 0.587 0.630192 0.4115 0.744 0.5216 0.8268 0.5491 0.42 0.73 0.54 0.8 0.5197 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481064 NA NA 0.441512 0.783636 NA 0.565 NA 2.627288 1389 5 94050447 94050447 C T intronic MCTP1 NA NA NA intronic ENSG00000175471 NA NA NA NA NA 5q15 NA NA NA NA rs2638 0.41 0.41 0.371 0.396965 0.4662 0.4345 0.4827 0.1853 0.5123 0.47 0.44 0.52 0.21 0.4512 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476335 NA NA 0.455698 0.233545 NA 0.399 NA 2.626902 1389 16 55844609 55844609 G T intronic CES1 NA NA NA intronic ENSG00000198848 NA NA NA NA Name=Response to dabigatran etexilate treatment 16q12.2 NA NA NA NA rs2244613 0.69 0.69 0.666 0.667332 0.839 0.3988 0.7277 0.7511 0.6115 0.85 0.4 0.76 0.75 0.7341 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218668 NA NA 0.8 0.761374 NA 0.667 NA 2.6269 1389 17 76481997 76481997 T C ncRNA_intronic LOC100996295 NA NA NA ncRNA_intronic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA rs12944880 0.65 0.65 0.597 0.671526 0.6759 0.6667 0.7608 0.5703 0.7454 0.66 0.65 0.77 0.53 0.6878 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066453 NA NA 0.676818 0.607448 NA 0.616 NA 2.6261486 1389 11 103270607 103270607 G A intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs10895417 0.52 0.52 0.518 0.53774 0.4314 0.5327 0.4957 0.6369 0.5481 0.43 0.53 0.49 0.65 0.4912 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722256 NA NA 0.451834 0.621245 NA 0.522 NA 2.625566 1389 12 27059224 27059224 G A intronic ASUN NA NA NA intronic ENSG00000064102 NA NA NA NA NA 12p11.23 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs1488052 0.9 0.9 0.89 0.900359 0.7833 1 0.8818 0.947 0.8681 0.8 1 0.86 0.95 0.8202 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486047 NA NA 0.771236 0.917121 NA 0.855 NA 2.625264 1389 10 49654403 49654403 C T UTR3 ARHGAP22 NM_001256026:c.*31G>A,NM_001256025:c.*31G>A,NM_001256024:c.*31G>A,NM_021226:c.*31G>A NA NA UTR3 ENSG00000128805 ENST00000249601:c.*31G>A,ENST00000374172:c.*31G>A,ENST00000374170:c.*31G>A,ENST00000477708:c.*31G>A,ENST00000417247:c.*31G>A,ENST00000435790:c.*31G>A,ENST00000417912:c.*31G>A NA NA NA NA 10q11.22 NA NA NA NA rs1051507 0.54 0.54 0.53 0.474641 0.6044 0.625 0.4856 0.323 0.3834 0.61 0.63 0.53 0.31 0.5303 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.545579 NA NA 0.573488 0.360418 NA 0.58 NA 2.6251454 1389 19 10668953 10668953 G A intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA NA NA NA rs875569 0.33 0.33 0.315 0.320487 0.499 0.2401 0.3026 0.1793 0.4233 0.49 0.23 0.36 0.2 0.4068 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.688331 NA NA 0.46907 0.207444 NA 0.457 NA 2.62513 1390 22 24492061 24492061 T C intronic CABIN1 NA NA NA intronic ENSG00000099991 NA NA NA NA NA 22q11.23 NA NA Name=10 NA rs2236622 0.66 0.66 0.63 0.654353 0.7843 0.6062 0.7968 0.4554 0.7382 0.8 0.56 0.82 0.46 0.7697 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386553 NA NA 0.821279 0.493645 NA 0.543 NA 2.624721 1390 16 53513055 53513055 T C intronic RBL2 NA NA NA intronic ENSG00000103479 NA NA NA NA NA 16q12.2 NA NA NA NA rs8049033 0.4 0.4 0.405 0.436901 0.4602 0.1786 0.379 0.6104 0.4857 0.45 0.15 0.42 0.59 0.4322 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.205657 2.205657 NA 0.482907 0.568926 NA 0.536 NA 2.624693 1390 19 57027606 57027606 C T intronic ZNF471 NA NA NA intronic ENSG00000196263 NA NA NA NA NA 19q13.43 NA NA NA NA rs10419939 0.4 0.4 0.418 0.380591 0.4891 0.2282 0.3213 0.4259 0.407 0.48 0.24 0.39 0.46 0.4149 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.08656 NA NA 0.471512 0.457104 NA 0.449 NA 2.624488 1390 15 78401540 78401540 A C intronic CIB2 NA NA NA intronic ENSG00000136425 NA NA NA NA NA 15q25.1 NA NA NA NA rs12592068 NA NA NA 0.754593 0.6799 0.8423 0.7565 0.7421 0.7566 NA NA NA NA 0.6957 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786302 NA NA NA NA NA 0.435 NA 2.6244 1390 17 31039255 31039255 T C intronic MYO1D NA NA NA intronic ENSG00000176658 NA NA NA NA NA 17q11.2 NA NA NA NA rs11080184 0.52 0.52 0.509 0.507388 0.4513 0.7242 0.4568 0.4266 0.4867 0.47 0.72 0.44 0.43 0.4833 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144135 NA NA 0.441047 0.410576 NA 0.5 NA 2.624353 1390 19 3750690 3750690 A C UTR3 TJP3 NM_001267560:c.*8A>C,NM_001267561:c.*8A>C NA NA UTR3 ENSG00000105289 ENST00000541714:c.*8A>C,ENST00000539908:c.*8A>C,ENST00000382008:c.*8A>C,ENST00000589378:c.*8A>C,ENST00000587686:c.*8A>C,ENST00000586032:c.*381A>C NA NA NA NA 19p13.3 NA NA NA NA rs1046278 0.57 0.57 0.519 0.576478 0.5646 0.6399 0.7046 0.4463 0.6084 0.54 0.68 0.68 0.42 0.5922 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146781 NA NA 0.552246 0.477056 NA 0.616 NA 2.6242874 1390 19 17179789 17179789 G A intronic HAUS8 NA NA NA intronic ENSG00000131351 NA NA NA NA NA 19p13.11 NA NA NA NA rs2305754 0.66 0.66 0.62 0.702676 0.671 0.4802 0.7882 0.7852 0.7924 0.68 0.47 0.75 0.77 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373789 NA NA 0.705053 0.799745 NA 0.688 NA 2.623947 1390 19 10668383 10668383 T C intronic KRI1 NA NA NA intronic ENSG00000129347 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745256 0.32 0.32 0.291 0.316094 0.501 0.2163 0.304 0.1793 0.4223 0.49 0.19 0.36 0.2 0.4056 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133455 NA NA 0.470349 0.207444 NA 0.457 NA 2.623051 1390 1 17570466 17570466 T C intronic PADI1 NA NA NA intronic ENSG00000142623 NA NA NA NA NA 1p36.13 NA NA NA NA rs2293921 0.48 0.48 0.475 0.512181 0.4473 0.4425 0.4236 0.5983 0.5971 0.43 0.44 0.44 0.61 0.4834 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41216 NA NA 0.446383 0.582879 NA 0.478 NA 2.622917 1390 22 50693554 50693554 A G intronic MAPK12 NA NA NA intronic ENSG00000188130 NA NA NA NA NA 22q13.33 NA NA NA NA rs6010220 0.82 0.82 0.766 0.865415 0.7008 0.8661 0.8213 0.9758 0.9162 0.7 0.86 0.78 0.96 0.6768 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608115 NA 0.86 NA NA NA 0.355 NA 2.6224 1390 12 4881766 4881766 C T UTR3 GALNT8 NM_017417:c.*3C>T NA NA UTR3 ENSG00000130035 ENST00000252318:c.*3C>T NA NA NA NA 12p13.32 NA NA NA NA rs2286581 0.49 0.49 0.458 0.428115 0.6213 0.3552 0.5245 0.3896 0.2883 0.62 0.37 0.53 0.41 0.5058 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082186 NA NA 0.584884 0.460281 NA 0.543 NA 2.6213494 1390 16 84455961 84455961 A G intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs2288573 0.45 0.45 0.461 0.473243 0.4761 0.2659 0.4539 0.6906 0.4039 0.48 0.23 0.48 0.65 0.4348 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403056 NA NA 0.468021 0.683528 NA 0.486 NA 2.621079 1390 3 48505302 48505302 A G intronic ATRIP NA NA NA intronic ENSG00000164053 NA NA NA NA NA 3p21.31 NA NA NA NA rs6442124 0.39 0.39 0.394 0.388778 0.4821 0.3145 0.3184 0.472 0.3067 0.48 0.29 0.33 0.43 0.4117 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02392 NA NA 0.485814 0.467771 NA 0.471 NA 2.620386 1390 12 4881775 4881775 T C UTR3 GALNT8 NM_017417:c.*12T>C NA NA UTR3 ENSG00000130035 ENST00000252318:c.*12T>C NA NA NA NA 12p13.32 NA NA NA NA rs2286582 0.49 0.49 0.471 0.428115 0.6213 0.3552 0.5245 0.3896 0.2883 0.62 0.37 0.53 0.42 0.5065 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540644 NA NA 0.585233 0.460508 NA 0.543 NA 2.6203004 1390 10 82034262 82034262 G A intronic MAT1A NA NA NA intronic ENSG00000151224 NA NA NA NA NA 10q23.1 NA NA NA NA rs2994388 0.54 0.54 0.564 0.588059 0.4245 0.4861 0.5216 0.7905 0.635 0.42 0.47 0.56 0.78 0.5125 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.151615 NA NA 0.443023 0.723332 NA 0.601 NA 2.619977 1390 5 118813240 118813240 T C intronic HSD17B4 NA NA NA intronic ENSG00000133835 NA NA NA NA NA 5q23.1 NA NA NA NA rs457106 0.4 0.4 0.346 0.352636 0.4682 0.5466 0.5058 0.0265 0.3661 0.49 0.51 0.49 0.04 0.4442 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614228 NA NA 0.468023 0.100363 NA 0.239 NA 2.619577 1390 7 66098482 66098482 G A intronic KCTD7 NA NA NA intronic ENSG00000243335 NA NA NA NA NA 7q11.21 NA NA NA NA rs3764903 0.46 0.46 0.479 0.456869 0.4622 0.2669 0.4524 0.6861 0.3405 0.45 0.24 0.45 0.72 0.448 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025232 NA NA 0.470349 0.660009 NA 0.413 NA 2.619451 1390 2 211319824 211319824 T C intronic LANCL1 NA NA NA ncRNA_intronic ENSG00000234281 NA NA NA NA NA 2q34 NA NA NA NA rs2287432 0.69 0.69 0.665 0.71226 0.5437 0.8522 0.7032 0.7776 0.6595 0.55 0.82 0.69 0.75 0.6203 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573547 NA NA 0.550349 0.761235 NA 0.536 NA 2.6189843 1390 16 53513033 53513033 C T intronic RBL2 NA NA NA intronic ENSG00000103479 NA NA NA NA NA 16q12.2 NA NA NA NA rs8043918 0.42 0.42 0.415 0.452676 0.4612 0.1786 0.3847 0.6657 0.4867 0.45 0.15 0.42 0.67 0.4374 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.37385 NA NA 0.48314 0.624886 NA 0.543 NA 2.61826 1390 12 32138924 32138924 T C intronic KIAA1551 NA NA NA intronic ENSG00000174718 NA NA NA NA NA 12p11.21 NA Name=FOXA1_(SC-101058),FOXA2_(SC-6554),FOXA1_(C-20) NA NA rs7302975 0.83 0.83 0.824 0.823482 0.7893 0.8234 0.817 0.8442 0.8354 0.8 0.85 0.81 0.86 0.807 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391813 NA NA 0.786113 0.827054 NA 0.761 NA 2.617587 1390 15 57744311 57744311 T A intronic CGNL1 NA NA NA intronic ENSG00000128849 NA NA NA NA NA 15q21.3 NA NA NA NA rs1018269 0.47 0.47 0.464 0.498203 0.4573 0.504 0.5029 0.4486 0.5982 0.44 0.5 0.52 0.43 0.4653 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313852 NA NA 0.460275 0.432938 NA 0.457 NA 2.617125 1390 22 45128288 45128288 G C intronic PRR5,PRR5-ARHGAP8 NA NA NA intronic ENSG00000186654,ENSG00000241484,ENSG00000248405 NA NA NA NA NA 22q13.31 NA NA NA NA rs5764979 0.66 0.66 0.629 0.724641 0.4135 0.8849 0.6499 0.8336 0.7853 0.41 0.9 0.61 0.82 0.562 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660867 NA NA 0.407895 0.763529 NA 0.63 NA 2.616605 1390 2 219612282 219612282 A G intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA NA NA NA rs2272188 0.42 0.42 0.436 0.410743 0.4662 0.1409 0.4222 0.6286 0.3292 0.46 0.16 0.42 0.66 0.4425 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054305 NA NA 0.474884 0.612574 NA 0.536 NA 2.616416 1390 10 116605103 116605103 A G intronic FAM160B1 NA NA NA intronic ENSG00000151553 NA NA NA NA NA 10q25.3 NA NA NA NA rs2420069 0.35 0.35 0.347 0.353235 0.4662 0.2331 0.3487 0.2549 0.4969 0.48 0.26 0.37 0.25 0.4315 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245972 NA NA 0.486163 0.303677 NA 0.471 NA 2.616137 1390 19 7170517 7170517 A G intronic INSR NA NA NA intronic ENSG00000171105 NA NA NA NA NA 19p13.2 NA NA NA NA rs2860178 0.49 0.49 0.517 0.54972 0.4722 0.3442 0.4035 0.8268 0.5706 0.47 0.28 0.41 0.84 0.4722 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62993 NA NA 0.439884 0.740808 NA 0.543 NA 2.615716 1390 8 94061646 94061646 T C intergenic TRIQK,C8orf87 dist=83274;dist=84678 NA NA intergenic ENSG00000205133,ENSG00000254318 dist=31745;dist=84678 NA NA NA NA 8q22.1 NA NA NA NA rs1504690 0.68 0.68 0.647 0.678315 0.7177 0.7411 0.6614 0.5371 0.7761 0.72 0.75 0.67 0.55 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50961 NA NA NA NA NA 0.739 NA 2.6156334 1390 15 41805115 41805115 G A intronic LTK NA NA NA intronic ENSG00000062524 NA NA NA NA NA 15q15.1 NA NA NA NA rs2253936 0.48 0.48 0.494 0.487819 0.4722 0.3115 0.5115 0.646 0.455 0.48 0.3 0.5 0.68 0.4617 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.044711 3.044711 NA 0.450619 0.607419 NA 0.536 NA 2.615481 1391 4 48541973 48541973 A G intronic FRYL NA NA NA intronic ENSG00000075539 NA NA NA NA NA 4p11 NA NA NA NA rs17656010 0.44 0.44 0.403 0.381789 0.4851 0.4494 0.5735 0.171 0.3548 0.48 0.5 0.59 0.19 0.4496 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.755186 NA NA 0.450305 0.20119 NA 0.304 NA 2.614995 1391 1 237755203 237755203 T C intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs2779430 0.37 0.37 0.298 0.33746 0.4911 0.3105 0.5403 0.1437 0.3252 0.48 0.34 0.54 0.11 0.4317 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500567 NA NA 0.462394 0.209137 NA 0.399 NA 2.614806 1391 6 13288648 13288648 A G intronic LOC100130357 NA NA NA ncRNA_intronic ENSG00000215022 NA NA NA NA NA 6p24.1 NA NA NA NA rs202038 0.83 0.83 0.838 NA NA NA NA NA NA 0.86 0.64 0.88 0.96 0.8506 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403234 NA NA 0.868157 0.939498 NA 0.877 NA 2.6145763 1391 21 22910123 22910123 T G intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA NA NA NA rs9979040 0.41 0.41 0.375 0.388379 0.4732 0.1726 0.4568 0.5287 0.2853 0.48 0.19 0.52 0.49 0.439 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787934 NA NA 0.473847 0.514788 NA 0.312 NA 2.613953 1391 9 135702490 135702490 T C intronic AK8 NA NA NA intronic ENSG00000165695 NA NA NA NA NA 9q34.13 NA NA NA NA rs13299768 0.35 0.35 0.271 0.352436 0.4791 0.375 0.428 0.034 0.5757 0.48 0.36 0.43 0.06 0.4375 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523445 NA NA 0.469644 0.103949 NA 0.29 NA 2.613756 1391 1 1686943 1686943 T C intronic NADK NA NA NA intronic ENSG00000008130 NA NA NA NA NA 1p36.33 NA NA NA NA rs2072929 0.38 0.38 0.355 0.353235 0.4751 0.3353 0.3415 0.2723 0.364 0.47 0.34 0.38 0.28 0.4328 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414898 NA NA 0.478372 0.303677 NA 0.399 NA 2.613728 1391 7 45144494 45144494 T C intronic TBRG4 NA NA NA intronic ENSG00000136270 NA NA NA NA NA 7p13 NA NA NA NA rs2289376 0.49 0.49 0.503 0.533347 0.4354 0.369 0.4957 0.7179 0.5808 0.44 0.35 0.5 0.74 0.4868 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395788 NA NA 0.464842 0.703767 NA 0.587 NA 2.612958 1391 6 101163433 101163433 A C intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs9403997 0.45 0.45 0.395 0.398363 0.4722 0.5248 0.4957 0.2821 0.2802 0.49 0.58 0.46 0.25 0.4646 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.582188 1.582188 NA 0.45028 0.332727 NA 0.406 NA 2.61292 1391 12 31240925 31240925 A G intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs7308773 0.63 0.63 0.567 0.632987 0.4314 0.8095 0.6066 0.7088 0.5746 0.43 0.82 0.59 0.75 0.5076 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709594 NA NA 0.44814 0.682705 NA 0.522 NA 2.61286 1391 3 10302395 10302395 G C intronic TATDN2 NA NA NA intronic ENSG00000157014,ENSG00000272410 NA NA NA NA NA 3p25.3 NA NA NA NA rs439483 0.65 0.65 0.657 0.699481 0.4324 0.9643 0.4568 0.7443 0.8129 0.42 0.98 0.47 0.77 0.5345 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002878 NA NA 0.420915 0.699678 NA 0.688 NA 2.612185 1391 3 179592240 179592240 C T intronic PEX5L NA NA NA intronic ENSG00000114757 NA NA NA NA NA 3q26.33 NA NA NA NA rs2339914 0.53 0.53 0.487 0.548922 0.4563 0.7917 0.5389 0.3956 0.6084 0.43 0.81 0.49 0.37 0.4983 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30846 NA NA 0.434302 0.418293 NA 0.543 NA 2.611098 1391 21 41165566 41165566 T C intronic IGSF5 NA NA NA intronic ENSG00000183067 NA NA NA NA NA 21q22.2 NA NA NA NA rs460504 0.32 0.32 0.278 0.309305 0.4692 0.2143 0.3084 0.2239 0.3589 0.46 0.19 0.33 0.24 0.4165 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.25639 NA NA 0.503372 0.279619 NA 0.406 NA 2.610928 1391 1 109813020 109813020 G A intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA NA NA NA rs3895559 0.45 0.45 0.476 0.41873 0.4791 0.496 0.4813 0.3313 0.3507 0.46 0.51 0.51 0.33 0.4456 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148879 NA NA 0.46593 0.347935 NA 0.384 NA 2.60937 1391 16 1818680 1818680 G C intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA Name=Pol2-4H8 NA NA rs2072989 0.75 0.75 0.743 0.755791 0.7932 0.6091 0.8718 0.8343 0.68 0.79 0.59 0.85 0.79 0.7872 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533144 NA NA 0.810251 0.825935 NA 0.783 NA 2.609349 1391 13 101795422 101795422 A G intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA NA NA rs661585 0.48 0.48 0.486 0.521765 0.4443 0.501 0.3804 0.6445 0.5573 0.45 0.48 0.39 0.59 0.491 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937284 NA NA 0.455581 0.601453 NA 0.507 NA 2.609119 1391 3 145824478 145824478 A G intronic PLOD2 NA NA NA intronic ENSG00000152952 NA NA NA NA NA 3q24 NA NA NA NA rs9289716 0.49 0.49 0.484 0.48103 0.4672 0.5744 0.4597 0.4879 0.4049 0.46 0.56 0.46 0.48 0.4663 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094388 NA NA 0.45814 0.504539 NA 0.435 NA 2.60836 1391 10 25140411 25140411 G C intronic PRTFDC1 NA NA NA intronic ENSG00000099256 NA NA NA NA NA 10p12.1 NA NA NA NA rs1326192 0.45 0.45 0.413 0.441094 0.4722 0.506 0.353 0.3374 0.545 0.47 0.51 0.38 0.38 0.4509 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079886 NA NA 0.468837 0.359283 NA 0.333 NA 2.608063 1391 4 139544646 139544646 A T intergenic LINC00499,CCRN4L dist=199148;dist=392297 NA NA intergenic ENSG00000248795,ENSG00000250977 dist=61551;dist=41233 NA NA NA NA 4q31.1 NA NA NA NA rs6843601 0.76 0.76 0.744 0.773562 0.7256 0.8224 0.6282 0.916 0.683 0.72 0.8 0.63 0.89 NA 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734992 NA NA NA NA NA 0.797 NA 2.6077334 1391 2 166611086 166611086 C T intronic GALNT3 NA NA NA intronic ENSG00000115339 NA NA NA NA NA 2q24.3 NA NA NA NA rs41268661 0.36 0.36 0.301 0.321086 0.497 0.3581 0.2882 0.1536 0.3517 0.5 0.35 0.34 0.15 0.4122 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188626 NA NA 0.48314 0.213215 ID=COSN166319;OCCURENCE=1(breast) 0.283 NA 2.60766 1391 1 228456147 228456147 T C intronic OBSCN NA NA NA intronic ENSG00000154358 NA NA NA NA NA 1q42.13 NA NA NA NA rs878388 0.69 0.69 0.656 0.671126 0.671 0.6131 0.6974 0.851 0.4693 0.66 0.6 0.7 0.82 0.7215 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706881 NA NA NA NA NA 0.674 NA 2.6075 1391 2 198265173 198265173 T A intronic SF3B1 NA NA NA intronic ENSG00000115524 NA NA NA NA NA 2q33.1 NA NA NA NA rs788017 0.64 0.64 0.733 0.717851 0.7256 0.5169 0.6311 0.8828 0.7556 0.67 0.53 0.57 0.77 0.6669 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.979854 NA NA NA NA NA 0.696 NA 2.6075 1391 2 1093965 1093965 G A intronic SNTG2 NA NA NA intronic ENSG00000172554 NA NA NA NA NA 2p25.3 NA NA NA NA rs11127460 0.34 0.34 0.318 0.297923 0.4861 0.2837 0.3357 0.1339 0.3139 0.48 0.29 0.4 0.14 0.4176 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134499 NA NA 0.488864 0.190399 ID=COSN166000;OCCURENCE=1(breast) 0.246 NA 2.607436 1391 17 49067763 49067763 T C intronic SPAG9 NA NA NA intronic ENSG00000008294 NA NA NA NA NA 17q21.33 NA NA NA NA rs9899816 0.47 0.47 0.476 0.439896 0.4632 0.4246 0.5101 0.4856 0.32 0.45 0.41 0.52 0.53 0.4652 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590906 NA NA 0.464302 0.497503 NA 0.449 NA 2.607298 1391 22 19504470 19504470 T C intronic CDC45 NA NA NA intronic ENSG00000093009 NA NA NA NA NA 22q11.21 NA NA NA NA rs2073732 0.64 0.64 0.594 0.655751 0.6869 0.8294 0.7349 0.3215 0.8405 0.69 0.81 0.68 0.33 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060168 NA NA 0.705845 0.38078 NA 0.507 NA 2.607255 1391 9 124929211 124929211 A G intronic MORN5 NA NA NA intronic ENSG00000185681 NA NA NA NA NA 9q33.2 NA NA NA NA rs1411444 0.37 0.37 0.356 0.363019 0.4632 0.0615 0.3487 0.5598 0.3149 0.46 0.06 0.4 0.58 0.4387 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692842 NA NA 0.491047 0.513845 NA 0.362 NA 2.607053 1391 20 45801319 45801319 T A intronic EYA2 NA NA NA intronic ENSG00000064655 NA NA NA NA NA 20q13.12 NA NA NA NA rs3827049 0.33 0.33 0.329 0.284944 0.502 0.2282 0.3141 0.1377 0.2986 0.52 0.22 0.35 0.13 0.4092 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518076 NA NA 0.48186 0.196096 NA 0.377 NA 2.60694 1391 5 52404312 52404312 C T intronic MOCS2 NA NA NA intronic ENSG00000164172 NA NA NA NA NA 5q11.2 NA NA NA NA rs153602 0.45 0.45 0.431 0.438698 0.4563 0.2034 0.4784 0.6127 0.3998 0.45 0.22 0.5 0.66 0.4572 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398702 NA NA 0.47976 0.617403 NA 0.333 NA 2.60674 1391 10 121199310 121199310 T C intronic GRK5 NA NA NA intronic ENSG00000198873 NA NA NA NA NA 10q26.11 NA NA NA NA rs1109490 0.33 0.33 0.294 0.325479 0.4712 0.1657 0.4179 0.2549 0.3701 0.47 0.16 0.42 0.24 0.4416 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462559 NA NA 0.480698 0.302088 NA 0.428 NA 2.606502 1391 20 2552805 2552805 T A intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs1883981 0.38 0.38 0.345 0.342652 0.4105 0.3552 0.4683 0.1135 0.4806 0.46 0.38 0.53 0.14 0.4581 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.437695 NA NA 0.525465 0.198366 NA 0.384 NA 2.605935 1391 19 15131261 15131261 C T intronic CCDC105 NA NA NA intronic ENSG00000105143,ENSG00000160994 NA NA NA NA NA 19p13.12 NA NA NA NA rs4405675 0.53 0.53 0.489 0.519569 0.4394 0.7034 0.5605 0.4054 0.5378 0.46 0.71 0.55 0.43 0.5083 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233053 NA NA 0.446628 0.428507 NA 0.435 NA 2.605672 1392 9 4285986 4285986 G C intronic GLIS3 NA NA NA intronic ENSG00000107249 NA NA NA NA NA 9p24.2 NA NA NA NA rs10758591 0.38 0.38 0.338 0.341254 0.4632 0.502 0.4135 0.0469 0.3967 0.46 0.52 0.43 0.06 0.4459 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349083 NA NA 0.485937 0.132991 NA 0.304 NA 2.604963 1392 11 116662579 116662579 C T UTR5 APOA5 NM_001166598:c.-3G>A,NM_052968:c.-3G>A NA NA UTR5 ENSG00000110243 ENST00000227665:c.-3G>A,ENST00000542499:c.-3G>A,ENST00000433069:c.-3G>A NA NA NA Name=Lipid metabolism phenotypes,Triglycerides 11q23.3 NA NA NA NA rs651821 0.84 0.84 0.836 0.824481 0.9175 0.7123 0.8458 0.8396 0.8088 0.92 0.72 0.87 0.85 0.8799 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.627836 1.627836 NA 0.931331 0.855066 NA 0.913 NA 2.6046024 1392 22 29446975 29446975 T C intronic ZNRF3 NA NA NA intronic ENSG00000183579 NA NA NA NA NA 22q12.1 NA NA NA NA rs6005967 0.44 0.44 0.394 0.398163 0.4751 0.4296 0.5058 0.2837 0.365 0.48 0.45 0.48 0.34 0.4586 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97721 NA NA 0.46171 0.305181 NA 0.609 NA 2.60459 1392 9 78842380 78842380 A G intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs1390141 0.35 0.35 0.365 0.388578 0.4573 0.244 0.2882 0.4107 0.5082 0.43 0.23 0.3 0.41 0.4834 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436296 NA NA 0.454751 0.401256 NA 0.37 NA 2.604549 1392 1 205764640 205764640 G A intronic SLC41A1 NA NA NA intronic ENSG00000133065 NA NA NA NA Name=Parkinson's disease 1q32.1 NA NA NA NA rs823156 0.69 0.69 0.655 0.649161 0.8101 0.755 0.7464 0.3381 0.726 0.82 0.78 0.76 0.32 0.7681 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.35133 NA NA 0.817791 0.423286 NA 0.717 NA 2.604009 1392 7 36366569 36366569 A T intronic KIAA0895 NA NA NA intronic ENSG00000164542 NA NA NA NA NA 7p14.2 NA NA NA NA rs196655 0.44 0.44 0.412 0.458067 0.4563 0.5099 0.4971 0.2534 0.6554 0.47 0.55 0.46 0.25 0.493 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324695 NA NA 0.446929 0.303374 NA 0.362 NA 2.603771 1392 11 9370633 9370633 A G intergenic TMEM41B,IPO7 dist=34318;dist=35536 NA NA intergenic ENSG00000166471,ENSG00000205339 dist=34306;dist=35536 NA NA NA NA 11p15.4 NA NA NA NA rs7938666 0.69 0.69 0.647 0.702077 0.7296 0.8859 0.7839 0.4251 0.8006 0.73 0.86 0.74 0.39 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.171148 NA NA NA NA NA 0.717 NA 2.6037334 1392 14 23020921 23020921 G C intergenic OR4E2,DAD1 dist=886683;dist=12886 NA NA UTR3 ENSG00000229164 ENST00000478163:c.*373G>C NA NA NA NA 14q11.2 NA NA NA NA rs3701 0.45 0.45 0.424 0.444489 0.4264 0.7748 0.4481 0.1104 0.5716 0.42 0.8 0.42 0.1 0.4339 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273114 NA NA 0.369487 0.133048 NA NA NA 2.6035464 1392 12 21628791 21628791 T C intronic RECQL NA NA NA intronic ENSG00000004700 NA NA NA NA NA 12p12.1 NA NA NA NA rs3752648 0.48 0.48 0.47 0.48742 0.4334 0.5437 0.4798 0.5083 0.4622 0.44 0.54 0.46 0.51 0.4824 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.831447 1.831447 NA 0.480684 0.490921 NA 0.587 NA 2.603516 1392 1 109270402 109270402 G A intronic FNDC7 NA NA NA intronic ENSG00000143107 NA NA NA NA NA 1p13.3 NA NA NA NA rs10494096 0.33 0.33 0.348 0.329073 0.4841 0.1865 0.3213 0.2239 0.4642 0.49 0.2 0.36 0.21 0.4333 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236607 NA NA 0.479302 0.278938 NA 0.355 NA 2.603298 1392 12 31240960 31240960 G A intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs7309189 0.63 0.63 0.629 0.632987 0.4314 0.8095 0.6066 0.7088 0.5746 0.43 0.83 0.59 0.76 0.5144 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520567 NA NA 0.451047 0.684975 NA 0.529 NA 2.603153 1392 1 89522512 89522512 C T intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs4376712 0.35 0.35 0.312 0.35643 0.4632 0.3581 0.304 0.2005 0.4928 0.46 0.35 0.35 0.18 0.4461 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446873 NA NA 0.487555 0.274399 NA 0.225 NA 2.603145 1392 6 20758943 20758943 G T intronic CDKAL1 NA NA NA ncRNA_intronic ENSG00000233848 NA NA NA NA NA 6p22.3 NA NA NA NA rs2820001 0.78 0.78 0.775 0.777556 0.8628 0.6637 0.8156 0.7958 0.7556 0.86 0.63 0.83 0.79 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429846 NA NA 0.868008 0.828035 NA 0.754 NA 2.6025253 1392 17 7846684 7846684 G A intronic CNTROB NA NA NA intronic ENSG00000170037 NA NA NA NA NA 17p13.1 NA NA NA NA rs7207022 0.55 0.55 0.526 0.595447 0.4304 0.8016 0.6398 0.4433 0.727 0.44 0.74 0.57 0.47 0.5322 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358565 NA NA 0.435 0.465275 NA 0.522 NA 2.6024 1392 16 20986506 20986506 C T intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs3115438 0.48 0.48 0.483 0.519968 0.4563 0.4821 0.5187 0.5318 0.6094 0.45 0.46 0.49 0.56 0.4911 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233096 NA NA 0.450233 0.543844 NA 0.5 NA 2.602367 1392 8 113363511 113363511 T C intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs7003500 0.41 0.41 0.373 0.372204 0.4751 0.4782 0.4568 0.121 0.4366 0.48 0.5 0.5 0.15 0.4474 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447463 NA NA 0.475536 0.173933 NA 0.435 NA 2.601964 1392 5 35910419 35910419 C T intronic CAPSL NA NA NA intronic ENSG00000152611 NA NA NA NA NA 5p13.2 NA NA NA NA rs1445899 0.51 0.51 0.464 0.525359 0.4523 0.7609 0.5937 0.2277 0.7117 0.45 0.8 0.56 0.25 0.502 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.784242 2.784242 NA 0.44394 0.276895 NA 0.522 NA 2.60176 1392 2 10053412 10053412 C T intronic TAF1B NA NA NA exonic ENSG00000115750 NA unknown UNKNOWN NA NA 2p25.1 NA NA NA NA rs12467598 0.48 0.48 0.45 0.43131 0.6551 0.4514 0.536 0.1301 0.5133 0.64 0.48 0.57 0.15 0.5759 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.889954 NA NA 0.667907 0.209714 NA 0.536 NA 2.601093 1392 1 110740688 110740688 C T intronic SLC6A17 NA NA NA intronic ENSG00000197106 NA NA NA NA NA 1p13.3 NA NA NA NA rs2761445 0.34 0.34 0.318 0.319489 0.4583 0.3056 0.402 0.1399 0.3753 0.47 0.32 0.4 0.12 0.4355 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624895 NA NA 0.505465 0.188833 NA 0.399 NA 2.600735 1392 12 56821998 56821998 A G intronic TIMELESS NA NA NA intronic ENSG00000111602 NA NA NA NA NA 12q13.3 NA NA NA NA rs774026 0.49 0.49 0.409 0.497005 0.4503 0.7371 0.6787 0.2269 0.5337 0.45 0.7 0.6 0.21 0.4955 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24117 1.24117 NA 0.453605 0.245801 NA 0.493 NA 2.600595 1392 4 88226480 88226480 A C intronic HSD17B13 NA NA NA intronic ENSG00000170509 NA NA NA NA NA 4q22.1 NA NA NA NA rs6850131 0.45 0.45 0.45 0.448682 0.4523 0.3462 0.3588 0.7133 0.2566 0.43 0.34 0.4 0.66 0.4673 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12194 NA NA 0.480554 0.671825 NA 0.63 NA 2.599846 1392 12 56815281 56815281 T C intronic TIMELESS NA NA NA intronic ENSG00000111602 NA NA NA NA NA 12q13.3 NA NA NA NA rs2291738 0.34 0.34 0.343 0.326478 0.4881 0.2827 0.3314 0.143 0.4499 0.49 0.33 0.35 0.13 0.4292 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374657 NA NA 0.483372 0.195642 NA 0.333 NA 2.599328 1392 22 50693538 50693538 G A intronic MAPK12 NA NA NA intronic ENSG00000188130 NA NA NA NA NA 22q13.33 NA NA NA NA rs6010219 0.76 0.76 0.602 0.834465 0.6978 0.8651 0.8112 0.8669 0.9162 0.67 0.84 0.73 0.83 0.7029 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971738 NA 1 NA NA NA 0.348 NA 2.5993 1392 2 39993167 39993167 T C intronic THUMPD2 NA NA NA intronic ENSG00000138050 NA NA NA NA NA 2p22.1 NA NA NA NA rs4670959 0.48 0.48 0.445 0.467053 0.4602 0.7282 0.5879 0.1566 0.5389 0.48 0.73 0.56 0.15 0.4902 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311241 NA NA 0.450326 0.225828 NA 0.406 NA 2.599274 1392 17 33341834 33341834 T C ncRNA_intronic RAD51L3-RFFL NA NA NA intronic ENSG00000092871,ENSG00000267618 NA NA NA NA NA 17q12 NA NA NA NA rs2074519 0.59 0.59 0.605 0.609625 0.5726 0.4524 0.4669 0.888 0.5348 0.59 0.4 0.49 0.89 0.5989 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27261 NA NA 0.562798 0.834213 NA 0.667 NA 2.5990353 1392 10 124697198 124697198 G A intronic C10orf88 NA NA NA intronic ENSG00000119965 NA NA NA NA NA 10q26.13 NA NA NA NA rs10794580 0.41 0.41 0.411 0.40655 0.492 0.4464 0.3516 0.2973 0.4642 0.5 0.47 0.35 0.25 0.4497 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.152859 NA NA 0.460689 0.32138 NA 0.413 NA 2.597611 1392 2 15448311 15448311 A T intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs1318102 0.63 0.63 0.658 0.668331 0.4334 0.8601 0.549 0.7935 0.6278 0.44 0.84 0.56 0.73 0.5231 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255601 1.255601 NA 0.446279 0.730141 NA 0.739 NA 2.597221 1392 7 75441111 75441111 G T downstream CCL24 NA NA NA UTR3 ENSG00000106178 ENST00000416943:c.*3C>A,ENST00000222902:c.*3C>A NA NA NA NA 7q11.23 NA NA NA NA rs11465314 0.51 0.51 0.51 0.482827 0.4632 0.748 0.4481 0.2421 0.5798 0.45 0.8 0.46 0.28 0.4849 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137316 NA NA 0.454767 0.297549 NA 0.551 NA 2.597133 1392 5 161579441 161579441 A G intronic GABRG2 NA NA NA intronic ENSG00000113327 NA NA NA NA NA 5q34 NA NA NA NA rs211013 0.55 0.55 0.576 0.54972 0.4513 0.6944 0.3746 0.6271 0.5215 0.46 0.67 0.39 0.67 0.4858 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621351 NA NA 0.466097 0.581143 NA 0.478 NA 2.596803 1392 7 75441108 75441108 C T downstream CCL24 NA NA NA UTR3 ENSG00000106178 ENST00000416943:c.*6G>A,ENST00000222902:c.*6G>A NA NA NA NA 7q11.23 NA NA NA NA rs11465315 0.51 0.51 0.522 0.482428 0.4632 0.748 0.4467 0.2413 0.5798 0.45 0.8 0.46 0.28 0.4853 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281785 NA NA 0.454767 0.296414 NA 0.551 NA 2.596733 1392 12 31244846 31244846 C G intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs1808348 0.63 0.63 0.593 0.635184 0.4394 0.8095 0.611 0.7088 0.5746 0.43 0.81 0.6 0.76 0.5263 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365909 NA NA 0.437689 0.667652 NA 0.043 NA 2.596611 1392 19 14139004 14139004 A G upstream RLN3 NA NA NA UTR5 ENSG00000171136 ENST00000431365:c.-13A>G NA NA NA NA 19p13.12 NA Name=ZBTB7A_(SC-34508) NA NA rs1982632 0.85 0.85 0.867 0.878994 0.7913 0.8313 0.8991 0.9856 0.8599 0.78 0.83 0.88 0.98 0.8243 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780837 NA NA 0.787791 0.952792 NA 0.877 NA 2.596609 1392 8 125072709 125072709 A G intronic FER1L6 NA NA NA ncRNA_exonic ENSG00000253868 NA NA NA NA NA 8q24.13 NA NA NA NA rs13258808 0.81 0.81 0.807 0.807907 0.8708 0.6915 0.7435 0.8699 0.8252 0.86 0.72 0.76 0.87 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847291 NA NA 0.866436 0.882225 NA 0.913 NA 2.5960973 1392 8 47768606 47768606 T A intergenic LINC00293,LOC100287846 dist=1199;dist=332324 NA NA intergenic ENSG00000253314,ENSG00000253803 dist=2677;dist=13918 NA NA NA NA 8q11.1 NA NA NA NA rs10096572 0.78 0.78 0.76 0.748003 0.7376 0.8611 0.8444 0.7489 0.5726 0.74 0.84 0.81 0.74 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980154 NA NA NA NA NA 0.79 NA 2.5957334 1392 20 45797883 45797883 C T intronic EYA2 NA NA NA intronic ENSG00000064655 NA NA NA NA NA 20q13.12 NA NA NA NA rs3091653 0.43 0.43 0.386 0.434704 0.4612 0.496 0.5778 0.2148 0.5399 0.44 0.51 0.53 0.22 0.4695 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201978 NA NA 0.473721 0.246482 NA 0.341 NA 2.595579 1393 12 104476264 104476264 T C intronic HCFC2 NA NA NA intronic ENSG00000111727 NA NA NA NA NA 12q23.3 NA NA NA NA rs2253274 0.29 0.29 0.258 0.278554 0.508 0.1002 0.4395 0.112 0.3374 0.48 0.1 0.41 0.13 0.4027 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.279046 1.279046 NA 0.494535 0.156832 NA 0.362 NA 2.594765 1393 4 2746285 2746285 A C intronic TNIP2 NA NA NA intronic ENSG00000168884 NA NA NA NA NA 4p16.3 NA NA NA NA rs13145281 0.49 0.49 0.393 0.490815 0.4612 0.4345 0.6398 0.4478 0.5317 0.48 0.46 0.6 0.44 0.5033 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720014 NA NA 0.441317 0.430294 ID=COSN167143;OCCURENCE=1(large_intestine) 0.457 NA 2.594183 1393 1 228399482 228399482 C G ncRNA_UTR5 OBSCN NA NA NA UTR5 ENSG00000154358 ENST00000570156:c.-3C>G,ENST00000284548:c.-3C>G,ENST00000366709:c.-71410C>G,ENST00000366707:c.-71410C>G,ENST00000422127:c.-3C>G NA NA NA NA 1q42.13 NA NA NA NA rs11804508 0.7 0.7 0.707 0.721046 0.6362 0.8313 0.6427 0.6815 0.8037 0.64 0.83 0.62 0.72 0.657 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031621 NA NA 0.612859 0.678775 NA 0.623 NA 2.593941 1393 1 19200908 19200908 G C intronic ALDH4A1 NA NA NA intronic ENSG00000159423,ENSG00000255275 NA NA NA NA NA 1p36.13 NA NA NA NA rs28529092 0.53 0.53 0.504 0.548522 0.4692 0.6637 0.5807 0.4349 0.6421 0.45 0.68 0.52 0.48 0.4943 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.730257 1.730257 NA 0.442791 0.427372 NA 0.536 NA 2.593709 1393 11 118919132 118919132 G A intronic HYOU1 NA NA NA intronic ENSG00000149428 NA NA NA NA NA 11q23.3 NA NA NA NA rs2276060 0.48 0.48 0.467 0.448882 0.4911 0.7282 0.3055 0.202 0.5532 0.49 0.76 0.34 0.23 0.4599 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916332 NA NA 0.45553 0.251136 NA 0.435 NA 2.59347 1393 6 497520 497520 G C intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs6909878 0.44 0.44 0.389 0.375998 0.492 0.7123 0.3084 0.0666 0.3763 0.49 0.73 0.37 0.06 0.4305 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441631 NA NA 0.484302 0.120064 NA 0.348 NA 2.593198 1393 17 10532884 10532884 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs12940161 0.56 0.56 NA 0.514177 0.7654 0.5377 0.6282 0.2398 0.5215 0.75 0.52 0.62 0.27 0.6417 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807037 NA NA NA NA NA 0.623 NA 2.5929 1393 1 214826364 214826364 G A intronic CENPF NA NA NA intronic ENSG00000117724 NA NA NA NA NA 1q41 NA NA NA NA rs335523 0.54 0.54 0.508 0.538339 0.4503 0.8393 0.5504 0.2852 0.6524 0.47 0.88 0.5 0.28 0.5086 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764278 NA NA 0.44836 0.317439 NA 0.377 NA 2.59274 1393 19 19032637 19032637 T C intronic DDX49 NA NA NA intronic ENSG00000105671,ENSG00000268193 NA NA NA NA NA 19p13.11 NA NA NA NA rs2231997 0.69 0.69 NA 0.680312 0.7207 0.3393 0.7939 0.9834 0.5 0.71 0.33 0.8 0.98 0.6867 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120705 NA NA NA NA NA 0.746 NA 2.5926 1393 10 5246584 5246584 C A intronic AKR1C4 NA NA NA intronic ENSG00000198610 NA NA NA NA NA 10p15.1 NA NA NA NA rs11253042 0.33 0.33 0.303 0.291733 0.5209 0.2599 0.317 0.1369 0.2802 0.51 0.26 0.34 0.15 0.4089 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.793034 NA NA 0.477649 0.187215 ID=COSN163533;OCCURENCE=1(NS) 0.261 NA 2.592551 1393 10 13230837 13230837 A G intronic MCM10 NA NA NA intronic ENSG00000065328 NA NA NA NA NA 10p13 NA NA NA NA rs6602641 0.36 0.36 0.344 0.369209 0.492 0.1657 0.3631 0.3949 0.4223 0.49 0.14 0.38 0.42 0.4258 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742886 NA NA 0.489651 0.429187 NA 0.377 NA 2.592549 1393 2 241492255 241492255 G T intronic ANKMY1 NA NA NA intronic ENSG00000144504 NA NA NA NA NA 2q37.3 NA NA NA NA rs4676428 0.71 0.71 0.719 0.725839 0.6968 0.8214 0.6037 0.6528 0.8425 0.71 0.83 0.62 0.66 0.7112 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497358 NA NA NA NA NA 0.775 NA 2.592 1393 3 52814256 52814256 T A intronic ITIH1 NA NA NA intronic ENSG00000055957 NA NA NA NA NA 3p21.1 NA NA NA NA rs2302417 0.45 0.45 0.288 0.388578 0.5129 0.4087 0.562 0.2292 0.3323 0.51 0.46 0.59 0.26 0.4716 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961813 NA NA 0.424563 0.216216 NA 0.254 NA 2.590937 1393 7 577651 577651 C T intergenic FLJ44511,PRKAR1B dist=12782;dist=11183 NA NA intergenic ENSG00000223855,ENSG00000188191 dist=12782;dist=11183 NA NA NA NA 7p22.3 NA NA NA NA rs9719862 0.68 0.68 0.684 0.67472 0.7425 0.8185 0.7695 0.3442 0.8364 0.75 0.81 0.74 0.38 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294614 NA NA NA NA NA 0.572 NA 2.5908334 1393 6 43401105 43401105 G A intronic ABCC10 NA NA NA intronic ENSG00000124574 NA NA NA NA NA 6p21.1 NA NA NA NA rs9394952 0.4 0.4 0.355 0.364018 0.4612 0.5853 0.4409 0.0287 0.4346 0.47 0.59 0.43 0.03 0.4764 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089004 NA NA 0.472442 0.103495 NA 0.275 NA 2.589958 1393 17 38905477 38905477 T G intronic KRT25 NA NA NA intronic ENSG00000204897 NA NA NA NA NA 17q21.2 NA NA NA NA rs10491127 0.5 0.5 0.499 0.500998 0.4493 0.7292 0.4107 0.3964 0.5245 0.46 0.71 0.42 0.37 0.4887 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457867 NA NA 0.472209 0.401044 NA 0.406 NA 2.589791 1393 4 122258063 122258063 A G intronic QRFPR NA NA NA intronic ENSG00000186867 NA NA NA NA NA 4q27 NA NA NA NA rs4490481 0.47 0.47 0.429 0.478834 0.4682 0.7272 0.5605 0.1808 0.5787 0.46 0.71 0.53 0.16 0.4779 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029468 NA NA 0.464302 0.236723 NA 0.312 NA 2.589598 1393 12 10312648 10312648 C A intronic OLR1 NA NA NA intronic ENSG00000173391 NA NA NA NA NA 12p13.2 NA NA NA NA rs13306593 0.35 0.35 0.293 0.31869 0.5109 0.2381 0.5403 0.1732 0.2434 0.5 0.23 0.48 0.15 0.4232 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.214782 NA NA 0.476512 0.222197 NA 0.355 NA 2.589388 1393 1 207143422 207143422 A G intronic FCAMR NA NA NA intronic ENSG00000162897 NA NA NA NA NA 1q32.1 NA NA NA NA rs1856746 0.56 0.56 0.591 0.55012 0.4702 0.4425 0.5101 0.9319 0.2556 0.45 0.41 0.56 0.92 0.4725 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.731688 NA NA 0.468035 0.853954 NA 0.717 NA 2.589265 1393 4 6602516 6602516 A G intronic MAN2B2 NA NA NA intronic ENSG00000013288 NA NA NA NA NA 4p16.1 NA NA NA NA rs12639813 0.52 0.52 0.505 0.520966 0.4523 0.6161 0.513 0.5333 0.4826 0.46 0.62 0.5 0.51 0.4894 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180329 NA NA 0.46907 0.533364 NA 0.428 NA 2.58923 1393 16 28922149 28922149 C T intronic RABEP2 NA NA NA intronic ENSG00000177548 NA NA NA NA NA 16p11.2 NA NA NA NA rs11646653 0.76 0.76 0.784 0.754992 0.7157 0.874 0.5288 0.7723 0.8098 0.71 0.87 0.63 0.79 0.6952 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488289 NA NA NA NA NA 0.848 NA 2.5891 1393 17 6483046 6483046 T C UTR3 KIAA0753 NM_014804:c.*21A>G NA NA UTR3 ENSG00000198920 ENST00000361413:c.*21A>G,ENST00000542606:c.*21A>G,ENST00000570790:c.*2071A>G,ENST00000572370:c.*21A>G,ENST00000589033:c.*21A>G,ENST00000542826:c.*1363A>G NA NA NA NA 17p13.2 NA NA NA NA rs3744720 0.66 0.66 0.663 0.689097 0.5467 0.7093 0.6801 0.8253 0.637 0.53 0.68 0.67 0.82 0.6228 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.657436 2.657436 NA 0.574747 0.782077 NA 0.812 NA 2.5890864 1393 19 56372705 56372705 C T intronic NLRP4 NA NA NA intronic ENSG00000160505 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801635 0.51 0.51 0.517 0.51278 0.4811 0.6448 0.5274 0.407 0.5419 0.45 0.67 0.49 0.41 0.4773 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059303 NA NA 0.452791 0.396051 NA 0.565 NA 2.588809 1393 2 98177124 98177124 T G intronic ANKRD36B NA NA NA ncRNA_intronic ENSG00000196912 NA NA NA NA NA 2q11.2 NA NA NA NA rs11681640 0.35 0.35 0.3 0.297923 0.6402 0.2331 0.415 0.1036 0.1922 0.53 0.26 0.43 0.11 0.4953 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684463 NA NA 0.609347 0.189767 NA NA NA 2.5884863 1393 22 41244398 41244398 C G intronic ST13 NA NA NA intronic ENSG00000100380 NA NA NA NA NA 22q13.2 NA NA NA NA rs138344 0.38 0.38 0.339 0.397364 0.4781 0.0605 0.6859 0.3563 0.5123 0.5 0.07 0.68 0.35 0.4674 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93694 NA NA 0.466163 0.369042 NA 0.435 NA 2.588337 1393 1 151026815 151026815 C T intronic CDC42SE1 NA NA NA intronic ENSG00000197622 NA NA NA NA NA 1q21.3 NA Name=Pol2-4H8 NA NA rs2902810 0.8 0.8 0.797 0.801917 0.8062 0.9058 0.8098 0.6884 0.8384 0.8 0.91 0.82 0.67 0.8061 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803917 NA NA 0.799535 0.699955 NA 0.739 NA 2.588165 1393 9 27455095 27455095 G C intronic MOB3B NA NA NA intronic ENSG00000120162 NA NA NA NA NA 9p21.2 NA NA NA NA rs12379154 0.42 0.42 0.401 0.417931 0.4722 0.5764 0.4784 0.1415 0.5297 0.46 0.58 0.46 0.15 0.4638 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035826 NA NA 0.47593 0.181571 NA 0.355 NA 2.58807 1393 3 111658290 111658290 T G intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA NA NA 3q13.2 NA NA NA NA rs712509 0.59 0.59 0.591 0.613019 0.4722 0.7659 0.5519 0.6452 0.6002 0.48 0.76 0.49 0.63 0.5118 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200185 NA NA 0.428488 0.613482 NA 0.58 NA 2.587512 1393 1 203709034 203709034 A G UTR3 ATP2B4 NM_001684:c.*52A>G,NM_001001396:c.*335A>G NA NA UTR3 ENSG00000058668 ENST00000357681:c.*52A>G,ENST00000391954:c.*335A>G,ENST00000367219:c.*335A>G,ENST00000367218:c.*335A>G,ENST00000341360:c.*335A>G,ENST00000484746:c.*215A>G NA NA NA NA 1q32.1 NA NA NA NA rs955865 0.61 0.61 0.596 0.600639 0.5805 0.499 0.7334 0.6694 0.5389 0.59 0.52 0.72 0.67 0.5835 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64921 NA NA 0.581854 0.675961 NA 0.543 NA 2.5874794 1393 15 75650972 75650972 G A intronic MAN2C1 NA NA NA intronic ENSG00000140400 NA NA NA NA NA 15q24.2 NA NA NA NA rs3809549 0.39 0.39 0.328 0.396366 0.4692 0.4792 0.4366 0.1483 0.5429 0.48 0.44 0.43 0.15 0.4729 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418139 NA NA 0.470424 0.208694 NA 0.493 NA 2.587476 1393 14 91937143 91937143 G A intronic SMEK1 NA NA NA intronic ENSG00000100796 NA NA NA NA NA 14q32.12 NA NA NA NA rs10873409 0.52 0.52 0.5 0.492013 0.4751 0.5149 0.5029 0.5265 0.4315 0.5 0.52 0.49 0.57 0.4926 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38113 NA NA 0.44593 0.509759 NA 0.478 NA 2.58637 1393 16 74999625 74999625 A T intronic WDR59 NA NA NA intronic ENSG00000103091 NA NA NA NA NA 16q23.1 NA NA NA NA rs4887796 0.63 0.63 0.618 0.644968 0.4404 0.756 0.5591 0.7716 0.6309 0.45 0.78 0.55 0.79 0.5309 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217537 NA NA 0.442791 0.715196 NA 0.623 NA 2.585909 1393 1 154557685 154557685 C T intronic ADAR NA NA NA intronic ENSG00000160710 NA NA NA NA NA 1q21.3 NA NA NA NA rs9427094 0.41 0.41 0.367 0.388778 0.4712 0.499 0.4769 0.1997 0.3834 0.47 0.49 0.48 0.19 0.463 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.955701 NA NA 0.480698 0.251929 NA 0.377 NA 2.585102 1393 14 91927717 91927717 G A intronic SMEK1 NA NA NA intronic ENSG00000100796 NA NA NA NA NA 14q32.12 NA NA NA NA rs8006817 0.52 0.52 0.477 0.491414 0.4761 0.5149 0.4957 0.5265 0.4325 0.5 0.52 0.48 0.57 0.4931 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751116 NA NA 0.445698 0.509305 NA 0.478 NA 2.585102 1393 17 49713205 49713205 G T intronic CA10 NA NA NA intronic ENSG00000154975 NA NA NA NA NA 17q21.33 NA NA NA NA rs10514986 0.38 0.38 0.383 0.359824 0.4901 0.3234 0.4496 0.2481 0.3507 0.49 0.31 0.46 0.23 0.4414 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.653264 2.653264 NA 0.483488 0.278938 ID=COSN165467;OCCURENCE=1(breast) 0.428 NA 2.585012 1394 8 76472560 76472560 A T intronic HNF4G NA NA NA intronic ENSG00000164749 NA NA NA NA NA 8q21.11 NA NA NA NA rs2941473 0.52 0.52 0.525 0.498203 0.4722 0.3214 0.3775 0.7753 0.4182 0.49 0.37 0.4 0.83 0.4676 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.724522 NA NA 0.47593 0.745574 NA 0.522 NA 2.58427 1394 2 61007782 61007782 A G intronic PAPOLG NA NA NA intronic ENSG00000115421 NA NA NA NA NA 2p16.1 NA NA NA NA rs10496089 0.69 0.69 0.669 0.698882 0.7117 0.5675 0.683 0.7231 0.7996 0.72 0.59 0.74 0.72 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588281 NA NA 0.704588 0.747832 NA 0.761 NA 2.583712 1394 1 5948677 5948677 G A intronic NPHP4 NA NA NA intronic ENSG00000131697 NA NA NA NA NA 1p36.31 NA Name=CTCF NA NA rs2282281 0.83 0.83 0.871 0.833866 0.8151 0.8413 0.7522 0.969 0.7209 0.81 0.83 0.72 0.95 0.7974 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846168 NA NA 0.804119 0.930365 NA 0.848 NA 2.583381 1394 7 134890855 134890855 T G intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA NA NA NA rs292593 0.6 0.6 0.571 NA NA NA NA NA NA 0.72 0.59 0.78 0.31 0.6931 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.986219 NA NA 0.723721 0.318656 NA 0.652 NA 2.583179 1394 20 31374259 31374259 C T intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs2424913 0.66 0.66 0.619 0.688099 0.4125 0.9931 0.6398 0.6747 0.7096 0.42 0.99 0.61 0.65 0.5576 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858654 NA NA 0.44694 0.627157 NA 0.507 NA 2.58296 1394 3 100992385 100992385 C T intronic IMPG2 NA NA NA intronic ENSG00000081148 NA NA NA NA NA 3q12.3 NA NA NA NA rs348866 0.37 0.37 0.356 0.358027 0.5149 0.3482 0.402 0.1891 0.4039 0.52 0.34 0.38 0.18 0.4262 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257696 NA NA 0.476395 0.256015 NA 0.333 NA 2.582505 1394 12 105446719 105446719 G T intronic ALDH1L2 NA NA NA intronic ENSG00000136010 NA NA NA NA NA 12q23.3 NA NA NA NA rs56118650 0.36 0.36 0.319 0.359824 0.499 0.3899 0.353 0.1354 0.4939 0.5 0.37 0.4 0.13 0.4349 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025335 NA NA 0.484302 0.193373 ID=COSM147599;OCCURENCE=1(stomach) 0.435 NA 2.581798 1394 5 149631413 149631413 A G intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA NA NA NA rs2288799 0.58 0.58 0.594 0.601438 0.4453 0.6002 0.4524 0.8207 0.5726 0.45 0.61 0.49 0.81 0.5161 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.311122 1.311122 NA 0.457295 0.782779 NA 0.681 NA 2.581305 1394 4 39279724 39279724 T C intronic WDR19 NA NA NA intronic ENSG00000157796 NA NA NA NA NA 4p14 NA NA NA NA rs12648082 0.47 0.47 0.479 0.489417 0.4573 0.379 0.3775 0.7663 0.3415 0.44 0.36 0.36 0.73 0.521 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.748179 1.748179 NA 0.440738 0.711746 NA 0.529 NA 2.580962 1394 2 86258784 86258784 T G intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA NA NA 2p11.2 NA NA NA NA rs2278536 0.26 0.26 0.25 0.237819 0.4861 0.1151 0.2853 0.0265 0.3609 0.47 0.13 0.35 0.04 0.4149 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916047 NA NA 0.518364 0.091787 ID=COSN166158;OCCURENCE=1(breast) 0.319 NA 2.580636 1394 6 7879407 7879407 T C intronic BMP6 NA NA NA intronic ENSG00000153162 NA NA NA NA NA 6p24.3 NA NA NA NA rs267172 0.65 0.65 0.657 0.647364 0.4523 0.8313 0.6225 0.7806 0.4959 0.46 0.82 0.59 0.8 0.5273 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497477 NA NA 0.440698 0.72719 NA 0.739 NA 2.579702 1394 12 21644667 21644667 G A intronic RECQL NA NA NA intronic ENSG00000004700 NA NA NA NA NA 12p12.1 NA NA NA NA rs10841834 0.4 0.4 0.374 0.373203 0.493 0.4623 0.3963 0.1248 0.4775 0.49 0.48 0.42 0.14 0.4692 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057033 NA NA 0.45813 0.188153 ID=COSN164190;OCCURENCE=1(NS) 0.239 NA 2.57967 1394 12 8759445 8759445 C T intronic AICDA NA NA NA intronic ENSG00000111732 NA NA NA NA NA 12p13.31 NA NA NA NA rs2518144 0.62 0.62 0.643 0.632588 0.4414 0.7808 0.4841 0.7685 0.5982 0.46 0.82 0.48 0.73 0.5323 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919493 NA NA 0.446803 0.739075 NA 0.471 NA 2.579497 1394 6 169629783 169629783 G A intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs6422747 0.67 0.67 0.671 0.701877 0.5606 0.6131 0.6686 0.9652 0.6063 0.56 0.58 0.66 0.95 0.6122 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654945 NA NA 0.581047 0.902406 ID=COSM150222;OCCURENCE=1(stomach) 0.754 NA 2.5794863 1394 10 81060474 81060474 T C intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1250549 0.56 0.56 0.522 0.590056 0.4324 0.6944 0.451 0.7209 0.5665 0.42 0.73 0.46 0.65 0.5229 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.960749 NA NA 0.465349 0.655838 NA 0.457 NA 2.579351 1394 19 14975471 14975471 C T intergenic OR7A10,OR7A17 dist=22782;dist=15767 NA NA ncRNA_exonic ENSG00000172148 NA NA NA NA NA 19p13.12 NA NA NA NA rs11085912 0.76 0.76 0.77 0.765974 0.6869 0.9435 0.683 0.7375 0.7618 0.71 0.91 0.67 0.72 0.7345 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.709935 NA NA NA NA NA 0.812 NA 2.5786 1394 8 113308243 113308243 A G intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs4876462 0.43 0.43 0.403 0.408746 0.4791 0.4435 0.4712 0.2723 0.4407 0.48 0.47 0.51 0.27 0.4625 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41259 NA NA 0.48 0.294825 NA 0.428 NA 2.5784 1394 6 74528293 74528293 A G intronic CD109 NA NA NA intronic ENSG00000156535 NA NA NA NA NA 6q13 NA NA NA NA rs3005506 0.44 0.44 0.407 0.434505 0.4881 0.4593 0.4755 0.2958 0.5123 0.51 0.47 0.45 0.32 0.4632 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213659 NA NA 0.470814 0.332274 NA 0.493 NA 2.577886 1394 5 7695845 7695845 C A intronic ADCY2 NA NA NA intronic ENSG00000078295 NA NA NA NA NA 5p15.31 NA NA NA NA rs11134251 0.58 0.58 0.588 0.596645 0.4443 0.8343 0.4135 0.5734 0.6697 0.46 0.81 0.45 0.59 0.5254 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.600884 NA NA 0.452442 0.562415 NA 0.572 NA 2.577858 1394 14 68042496 68042496 A G intronic PLEKHH1 NA NA NA intronic ENSG00000054690 NA NA NA NA NA 14q24.1 NA Name=CTCF NA NA rs4902491 0.74 0.74 0.706 0.72484 0.8131 0.624 0.8386 0.6475 0.7618 0.81 0.67 0.84 0.64 0.8 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22314 NA NA 0.809176 0.698606 NA 0.804 NA 2.577724 1394 3 41942199 41942199 T C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA Name=79 NA rs1717007 0.7 0.7 0.669 0.681909 0.8101 0.8532 0.8141 0.2814 0.8211 0.8 0.85 0.81 0.29 0.7871 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018221 NA NA 0.825457 0.354502 NA 0.645 NA 2.577343 1394 6 170159023 170159023 G A intronic C6orf70 NA NA NA intronic ENSG00000130023 NA NA NA NA NA 6q27 NA NA NA NA rs6459660 0.73 0.73 0.752 0.747204 0.4563 0.9821 0.7003 0.9175 0.6074 0.47 0.98 0.66 0.9 0.5521 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.591186 NA NA 0.414535 0.83931 NA 0.717 NA 2.577065 1394 3 183896641 183896641 T C intronic AP2M1 NA NA NA intronic ENSG00000145191,ENSG00000161203 NA NA NA NA NA 3q27.1 NA NA NA NA rs2231216 0.41 0.41 0.362 0.419329 0.4692 0.5655 0.3833 0.1808 0.5654 0.46 0.57 0.38 0.16 0.4673 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511409 1.511409 NA 0.486509 0.223167 NA 0.341 NA 2.576991 1394 3 39701165 39701165 A G intergenic MOBP,MYRIP dist=143671;dist=150138 NA NA intergenic ENSG00000230757,ENSG00000170011 dist=14969;dist=149240 NA NA NA NA 3p22.1 NA NA NA NA rs12107784 0.74 0.74 0.686 0.719649 0.7565 0.878 0.7594 0.5166 0.7648 0.78 0.87 0.75 0.53 NA 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898102 NA NA NA NA NA 0.623 NA 2.5768334 1394 5 102537200 102537200 T G intronic PPIP5K2 NA NA NA intronic ENSG00000145725 NA NA NA NA NA 5q21.1 NA NA NA NA rs154290 0.43 0.43 0.381 0.347843 0.4871 0.6002 0.389 0.118 0.226 0.49 0.58 0.45 0.12 0.4379 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815615 NA NA 0.498487 0.166515 NA 0.312 NA 2.576513 1394 12 31254752 31254752 C T intronic DDX11 NA NA NA intronic ENSG00000013573 NA NA NA NA NA 12p11.21 NA NA NA NA rs7966272 0.63 0.63 0.619 0.634585 0.4394 0.8075 0.6124 0.708 0.5736 0.44 0.82 0.6 0.75 0.5268 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644 NA NA 0.45731 0.692568 NA 0.312 NA 2.57649 1394 22 35478688 35478688 C T intronic ISX NA NA NA intronic ENSG00000175329 NA NA NA NA NA 22q12.3 NA NA NA NA rs725267 0.36 0.36 0.356 0.339058 0.4891 0.1488 0.4726 0.3812 0.229 0.46 0.15 0.45 0.38 0.4246 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505973 NA NA 0.51 0.406718 NA 0.587 NA 2.5763 1394 16 19553183 19553183 T C intronic CCP110 NA NA NA intronic ENSG00000103540 NA NA NA NA NA 16p12.3 NA NA NA NA rs17325092 0.25 0.25 0.214 0.192093 0.507 0.0357 0.2565 0.0234 0.2117 0.52 0.04 0.28 0.03 0.3992 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.475133 2.475133 NA 0.517907 0.101957 NA 0.167 NA 2.575893 1394 22 22786410 22786410 C T intergenic LOC96610,ZNF280B dist=109086;dist=52362 NA NA intronic ENSG00000211655 NA NA NA NA NA 22q11.22 NA NA NA NA rs165657 0.4 0.4 0.349 0.342851 0.5577 0.3452 0.5288 0.0953 0.3221 0.56 0.35 0.51 0.12 0.5331 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191856 NA NA NA NA NA 0.312 NA 2.5758667 1394 9 112629858 112629858 A G intronic PALM2,PALM2-AKAP2 NA NA NA intronic ENSG00000157654,ENSG00000241978,ENSG00000243444 NA NA NA NA NA 9q31.3 Score=808;Name=V$FREAC4_01 NA NA NA rs2769154 0.9 0.9 0.881 0.905351 0.7773 0.9593 0.8948 0.9735 0.8967 0.8 0.97 0.88 0.97 0.8507 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.671203 1.671203 NA 0.796395 0.948933 NA 0.935 NA 2.575605 1394 12 21615664 21615664 T C intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs3782660 0.48 0.48 0.459 0.476038 0.4483 0.5268 0.4841 0.4955 0.4202 0.44 0.52 0.48 0.5 0.4805 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803733 NA NA 0.496163 0.488652 NA 0.536 NA 2.575037 1395 1 237755188 237755188 C T intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs2618713 0.37 0.37 0.307 0.335863 0.4911 0.3105 0.5403 0.1437 0.317 0.48 0.34 0.54 0.11 0.4598 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066942 NA NA 0.474818 0.201862 NA 0.399 NA 2.574282 1395 10 3146180 3146180 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs2306294 0.51 0.51 0.525 0.540535 0.4672 0.4494 0.4683 0.7481 0.4806 0.46 0.42 0.47 0.71 0.504 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38374 NA NA 0.454736 0.684462 NA 0.464 NA 2.574064 1395 1 157811392 157811392 G A intronic CD5L NA NA NA intronic ENSG00000073754 NA NA NA NA NA 1q23.1 NA NA NA NA rs2260040 0.76 0.76 0.76 0.788738 0.7187 0.8095 0.7522 0.7912 0.862 0.72 0.81 0.72 0.81 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369874 NA NA 0.707731 0.734827 NA 0.841 NA 2.573569 1395 12 21613923 21613923 T C intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs7309539 0.48 0.48 0.47 0.476038 0.4483 0.5268 0.4841 0.4955 0.4202 0.44 0.52 0.48 0.5 0.4851 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384415 NA NA 0.493321 0.487677 NA 0.529 NA 2.573279 1395 20 5935385 5935385 T C intronic MCM8 NA NA NA intronic ENSG00000125885 NA NA NA NA Name=Menopause (age at onset) 20p12.3 NA NA NA NA rs236114 0.89 0.89 0.91 0.883586 0.8062 0.998 0.8559 0.9266 0.8067 0.82 1 0.8 0.95 0.835 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430205 NA NA 0.785814 0.912165 NA 0.877 NA 2.572986 1395 6 564515 564515 G T intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs2277096 0.4 0.4 0.35 0.422125 0.499 0.3859 0.6023 0.1074 0.6779 0.48 0.41 0.56 0.14 0.4629 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022682 NA NA 0.465465 0.136405 NA 0.478 NA 2.572635 1395 7 87179143 87179143 A G intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs2235033 0.46 0.46 0.443 0.465056 0.493 0.375 0.5461 0.5151 0.4039 0.48 0.35 0.51 0.51 0.4615 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231094 NA NA 0.472907 0.444167 ID=COSN168136;OCCURENCE=1(large_intestine) 0.464 NA 2.572593 1395 4 108868515 108868515 T C intronic CYP2U1 NA NA NA ncRNA_intronic ENSG00000245293 NA NA NA NA NA 4q25 NA NA NA NA rs6856745 0.65 0.65 0.65 0.650958 0.5924 0.6825 0.621 0.7746 0.5327 0.58 0.7 0.63 0.73 0.6049 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.065832 3.065832 NA 0.563721 0.756015 NA 0.507 NA 2.5723123 1395 19 43522911 43522911 A C intronic PSG11 NA NA NA intronic ENSG00000243130 NA NA NA NA NA 19q13.31 NA NA NA NA rs9789252 0.59 0.59 0.59 0.567891 0.4751 0.9772 0.4683 0.3782 0.5685 0.47 0.99 0.46 0.39 0.5034 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218082 NA NA 0.44936 0.396136 NA 0.188 NA 2.57214 1395 1 38301476 38301476 G A intronic MTF1 NA NA NA intronic ENSG00000188786 NA NA NA NA NA 1p34.3 NA NA NA NA rs3762359 0.57 0.57 0.559 0.523163 0.7247 0.4802 0.598 0.295 0.6155 0.74 0.52 0.59 0.33 NA 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965618 NA NA 0.703331 0.366329 NA 0.543 NA 2.571969 1395 5 52248291 52248291 T C UTR3 ITGA1 NM_181501:c.*10T>C NA NA ncRNA_UTR3 ENSG00000213949 NA NA NA NA NA 5q11.2 NA NA NA NA rs1054085 0.61 0.61 0.638 0.581669 0.6113 0.5357 0.5331 0.6505 0.5399 0.62 0.56 0.56 0.7 0.6597 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679151 NA NA 0.657047 0.654215 NA 0.507 NA 2.571953 1395 20 61428423 61428423 A C intronic MRGBP NA NA NA intronic ENSG00000101189 NA NA NA NA NA 20q13.33 NA NA NA NA rs11696245 0.58 0.58 0.553 0.632188 0.4453 0.6161 0.5058 0.8631 0.6186 0.46 0.58 0.52 0.82 0.5298 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268147 1.268147 NA 0.453096 0.80577 NA 0.377 NA 2.571804 1395 4 142651159 142651159 T C intronic IL15 NA NA NA intronic ENSG00000164136 NA NA NA NA NA 4q31.21 NA NA NA NA rs12510030 0.49 0.49 0.478 0.530152 0.4592 0.5288 0.4121 0.5825 0.6176 0.46 0.49 0.44 0.56 0.4976 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478015 NA NA 0.471498 0.559491 ID=COSN167340;OCCURENCE=1(lung),1(large_intestine) 0.478 NA 2.571702 1395 17 73208182 73208182 C T intronic NUP85 NA NA NA intronic ENSG00000125450 NA NA NA NA NA 17q25.1 NA NA NA NA rs12946479 0.67 0.67 NA 0.663139 0.7376 0.8373 0.7536 0.329 0.7945 0.75 0.87 0.69 0.32 0.691 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960747 NA NA NA NA NA 0.406 NA 2.5714 1395 5 135276701 135276701 T C intronic FBXL21 NA NA NA intronic ENSG00000145826,ENSG00000164616 NA NA NA NA NA 5q31.1 NA NA NA NA rs31548 0.72 0.72 0.664 NA NA NA NA NA NA 0.72 0.78 0.73 0.64 0.7327 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286092 NA NA 0.696332 0.6474 NA 0.638 NA 2.570968 1395 6 134304023 134304023 C T intronic TBPL1 NA NA NA intronic ENSG00000028839 NA NA NA NA NA 6q23.2 NA NA NA NA rs2076583 0.29 0.29 0.261 0.236222 0.495 0.1508 0.3228 0.0688 0.2229 0.5 0.15 0.35 0.08 0.4001 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826639 NA NA 0.533961 0.148114 NA 0.37 NA 2.570939 1395 15 34103272 34103272 C G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA Name=9 NA rs4780181 0.85 0.85 0.826 0.85024 0.8101 0.9484 0.8501 0.8222 0.8282 0.82 0.92 0.85 0.79 0.8326 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215841 NA NA 0.78637 0.840459 NA 0.804 NA 2.57093 1395 11 119217254 119217254 C T UTR5 C1QTNF5,MFRP NM_015645:c.-6147G>A;NM_031433:c.-31G>A NA NA UTR5 ENSG00000223953,ENSG00000235718,ENSG00000259159 ENST00000445041:c.-6147G>A;ENST00000555262:c.-31G>A,ENST00000449574:c.-31G>A,ENST00000360167:c.-31G>A;ENST00000530681:c.-31G>A NA NA NA NA 11q23.3 NA NA NA NA rs883247 0.63 0.63 0.618 0.635583 0.5865 0.7748 0.5562 0.5514 0.7127 0.58 0.77 0.58 0.56 0.5951 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148465 NA NA 0.580908 0.5407 NA 0.587 NA 2.5708254 1395 1 22160148 22160148 C T intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs7547731 0.42 0.42 0.427 0.375 0.4821 0.6478 0.4553 0.0772 0.3292 0.49 0.64 0.41 0.08 0.4552 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662821 NA NA 0.492206 0.143733 NA 0.29 NA 2.570494 1395 21 38496883 38496883 A G intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835613 0.57 0.57 0.534 0.593051 0.4612 0.629 0.611 0.6407 0.6145 0.46 0.65 0.6 0.65 0.5225 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87653 NA NA 0.446009 0.626764 NA 0.667 NA 2.570291 1395 22 36545137 36545137 A T intronic APOL3 NA NA NA exonic ENSG00000128284 NA nonsynonymous SNV ENSG00000128284:ENST00000397289:exon2:c.T277A:p.W93R NA NA 22q12.3 NA NA NA NA rs132642 0.94 0.94 0.946 0.941693 0.8738 0.9911 0.9308 0.9909 0.9018 0.87 0.99 0.93 0.98 0.8839 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123005 NA NA 0.838721 0.969133 NA 0.913 NA 2.5702457 1395 7 150488616 150488616 A G UTR3 TMEM176B NM_001101311:c.*3T>C,NM_014020:c.*3T>C,NM_001101314:c.*3T>C,NM_001101312:c.*3T>C NA NA UTR3 ENSG00000106565 ENST00000492607:c.*3T>C,ENST00000447204:c.*3T>C,ENST00000326442:c.*3T>C,ENST00000434545:c.*3T>C,ENST00000429904:c.*3T>C,ENST00000450753:c.*3T>C NA NA NA NA 7q36.1 NA NA NA NA rs2302479 0.64 0.64 0.628 0.647764 0.5885 0.626 0.5072 0.8124 0.6084 0.56 0.67 0.51 0.81 0.592 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70418 NA NA 0.583023 0.780527 NA 0.522 NA 2.5698104 1395 5 118837834 118837834 A G intronic HSD17B4 NA NA NA intronic ENSG00000133835 NA NA NA NA NA 5q23.1 NA NA NA NA rs55708333 0.4 0.4 0.402 0.423722 0.4811 0.5139 0.5375 0.2549 0.4192 0.43 0.44 0.47 0.24 0.4749 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078903 NA NA 0.474994 0.320391 NA 0.109 NA 2.569006 1395 18 21113285 21113285 T C intronic NPC1 NA NA NA intronic ENSG00000141458 NA NA NA NA NA 18q11.2 NA NA NA NA rs2510344 0.53 0.53 0.51 0.522165 0.4592 0.6111 0.6153 0.4902 0.4724 0.47 0.64 0.56 0.48 0.5011 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202345 NA NA 0.470698 0.481843 NA 0.572 NA 2.569002 1395 7 130150705 130150705 G A intronic COPG2 NA NA NA intergenic ENSG00000158623,ENSG00000239021 dist=2205;dist=136967 NA NA NA NA 7q32.2 NA NA NA NA rs12706944 0.46 0.46 0.411 0.41873 0.5477 0.6121 0.5245 0.0514 0.5082 0.54 0.63 0.51 0.08 NA 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409029 NA NA 0.550283 0.114884 NA 0.406 NA 2.5686837 1395 1 151732700 151732700 A G intronic MRPL9 NA NA NA intronic ENSG00000143436 NA NA NA NA NA 1q21.3 NA NA NA NA rs10888433 0.52 0.52 0.509 0.512181 0.4642 0.4365 0.5951 0.6944 0.3344 0.46 0.4 0.58 0.71 0.49 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753661 NA NA 0.477326 0.631412 NA 0.5 NA 2.568474 1395 12 121017439 121017439 A G intronic POP5 NA NA NA intronic ENSG00000167272 NA NA NA NA NA 12q24.31 NA NA Name=16 NA rs563920 0.8 0.8 0.794 0.785144 0.7962 0.8413 0.8242 0.7042 0.7975 0.8 0.84 0.82 0.74 0.8146 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379591 NA NA 0.820814 0.706537 NA 0.775 NA 2.568386 1395 15 75129594 75129594 G A intronic ULK3 NA NA NA intronic ENSG00000140474 NA NA NA NA NA 15q24.1 NA NA NA NA rs2290573 0.3 0.3 0.256 0.228634 0.502 0.1766 0.4496 0.0234 0.1217 0.5 0.17 0.44 0.03 0.4022 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601281 NA NA 0.52769 0.095947 NA 0.384 NA 2.56811 1395 6 158569886 158569886 T C intronic SERAC1 NA NA NA intronic ENSG00000122335 NA NA NA NA NA 6q25.3 NA NA NA NA rs9356399 0.44 0.44 0.404 0.400559 0.4801 0.4236 0.6297 0.2065 0.3947 0.47 0.47 0.6 0.22 0.4708 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689451 NA NA 0.481395 0.280654 NA 0.399 NA 2.567705 1395 19 2989810 2989810 G T intronic TLE6 NA NA NA intronic ENSG00000104953 NA NA NA NA NA 19p13.3 NA NA NA NA rs504199 0.54 0.54 0.564 0.529553 0.4751 0.5149 0.5202 0.7042 0.3712 0.48 0.51 0.51 0.7 0.4746 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239229 NA NA 0.482907 0.662733 NA 0.565 NA 2.567393 1395 19 55481669 55481669 T C intronic NLRP2 NA NA NA intronic ENSG00000022556 NA NA NA NA NA 19q13.42 NA NA NA NA rs269913 0.53 0.53 0.525 0.478634 0.4831 0.4028 0.4035 0.7345 0.2597 0.48 0.47 0.45 0.72 0.4575 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856199 NA NA 0.492093 0.684975 NA 0.543 NA 2.567307 1395 21 11124215 11124215 T C intergenic BAGE,NONE dist=25278;dist=NONE NA NA intergenic ENSG00000187172,ENSG00000231962 dist=25235;dist=29622 NA NA NA NA 21p11.1 NA NA NA NA rs2740244 NA NA 0.779 0.714257 0.7664 0.6935 0.7839 0.612 0.771 NA NA NA NA NA 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702446 NA NA NA NA NA 0.123 NA 2.5669334 1395 20 31387954 31387954 C G intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs1997797 0.68 0.68 0.659 0.714058 0.4185 0.9931 0.6427 0.7655 0.7117 0.43 0.99 0.62 0.75 0.5663 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412074 NA NA 0.448372 0.701089 NA 0.572 NA 2.566828 1395 10 105796399 105796399 G C intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q24.33 Score=825;Name=V$EVI1_04 NA NA NA rs2274098 0.73 0.73 0.715 0.691494 0.8201 0.8204 0.768 0.441 0.7106 0.81 0.84 0.78 0.42 0.7804 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975924 NA NA 0.833023 0.507944 NA 0.746 NA 2.566477 1395 12 21608043 21608043 A G intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs2192183 0.48 0.48 0.472 0.476238 0.4483 0.5268 0.4841 0.4962 0.4202 0.44 0.52 0.48 0.5 0.49 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09702 NA NA 0.49558 0.487971 NA 0.5 NA 2.56612 1395 9 130242109 130242109 C T intronic LRSAM1 NA NA NA intronic ENSG00000148356 NA NA NA NA NA 9q33.3 NA NA NA NA rs1539568 0.37 0.37 0.385 0.352037 0.5298 0.2063 0.2795 0.3676 0.3497 0.54 0.17 0.31 0.39 0.4232 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147352 NA NA 0.480921 0.37852 NA 0.275 NA 2.566079 1395 6 33656969 33656969 G A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296739 0.5 0.5 0.442 0.510583 0.4692 0.8462 0.5735 0.0983 0.7198 0.48 0.82 0.57 0.11 0.5264 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03298 NA NA 0.438372 0.181571 NA 0.464 NA 2.566028 1395 9 130236243 130236243 G A intronic LRSAM1 NA NA NA intronic ENSG00000148356 NA NA NA NA NA 9q33.3 NA NA NA NA rs2250267 0.37 0.37 0.35 0.351837 0.5298 0.2063 0.2795 0.3669 0.3497 0.54 0.17 0.31 0.38 0.4222 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842536 NA NA 0.481977 0.378575 NA 0.268 NA 2.566023 1395 6 70962044 70962044 A G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs519068 0.41 0.41 0.418 0.403355 0.4911 0.2986 0.3055 0.5265 0.3241 0.48 0.26 0.35 0.53 0.4485 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312399 NA NA 0.494535 0.511348 NA 0.522 NA 2.565865 1395 20 50241714 50241714 C A intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs2235859 0.46 0.46 0.444 0.472244 0.4712 0.2262 0.598 0.649 0.3988 0.46 0.27 0.56 0.61 0.4886 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872947 NA NA 0.475 0.622106 NA 0.348 NA 2.5652 1396 11 1216491 1216491 G C intergenic MUC2,MUC5B dist=112074;dist=27804 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=54130;dist=27805 NA NA Score=391;Name=lod=52 NA 11p15.5 NA NA NA NA rs1132434 0.56 0.56 0.527 0.513978 0.5944 0.6687 0.5562 0.298 0.5337 0.6 0.72 0.58 0.29 0.5858 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.169141 2.169141 NA 0.588487 0.331808 NA 0.507 NA 2.5646464 1396 5 70834833 70834833 G A intronic BDP1 NA NA NA intronic ENSG00000145734 NA NA NA NA NA 5q13.2 NA NA NA NA rs276590 0.42 0.42 0.417 0.439497 0.492 0.379 0.3444 0.41 0.5552 0.5 0.39 0.35 0.4 0.4617 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166159 NA NA 0.482209 0.38609 NA 0.406 NA 2.564091 1396 16 57111825 57111825 T C intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs27392 0.32 0.32 0.333 0.272564 0.5089 0.1518 0.3602 0.1543 0.2515 0.51 0.15 0.38 0.16 0.4089 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80731 NA NA 0.51814 0.202684 NA 0.355 NA 2.56406 1396 19 53411448 53411448 G A intergenic ZNF320,ZNF816-ZNF321P dist=16849;dist=18940 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=10502;dist=7001 NA NA NA NA 19q13.41 NA NA NA NA rs7256400 0.4 0.4 0.404 0.406749 0.2316 0.2917 0.4769 0.7239 0.227 0.24 0.31 0.42 0.72 0.3092 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227425 NA NA 0.228894 0.674087 NA 0.471 NA 2.5636394 1396 7 21695416 21695416 A G intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs11769118 0.32 0.32 0.29 0.295727 0.5109 0.2232 0.3703 0.0779 0.3906 0.51 0.24 0.4 0.07 0.4443 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578564 1.578564 NA 0.481215 0.150348 NA 0.348 NA 2.563585 1396 17 79165171 79165171 G A intronic AZI1 NA NA NA intronic ENSG00000141577 NA NA NA NA NA 17q25.3 NA NA NA NA rs869370 0.45 0.45 0.398 0.436102 0.4453 0.6667 0.6268 0.0408 0.5879 0.45 0.68 0.6 0.07 0.5076 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399223 NA NA 0.483589 0.127442 NA 0.377 NA 2.563511 1396 19 53411368 53411368 G A intergenic ZNF320,ZNF816-ZNF321P dist=16769;dist=19020 NA NA intergenic ENSG00000182986,ENSG00000213793 dist=10422;dist=7081 NA NA NA NA 19q13.41 NA NA NA NA rs7256260 0.39 0.39 0.41 0.403954 0.2316 0.2778 0.4769 0.7239 0.227 0.23 0.29 0.42 0.72 0.3097 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745203 NA NA 0.22878 0.674658 NA 0.464 NA 2.5632534 1396 12 1863728 1863728 A T intronic ADIPOR2 NA NA NA intronic ENSG00000006831 NA NA NA NA NA 12p13.33 NA NA NA NA rs11061971 0.59 0.59 0.573 0.605032 0.4781 0.6091 0.6311 0.7247 0.5511 0.46 0.6 0.61 0.75 0.5186 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161641 NA NA 0.440233 0.688606 NA 0.514 NA 2.563067 1396 8 23059280 23059280 G T intronic TNFRSF10A NA NA NA intronic ENSG00000104689 NA NA NA NA NA 8p21.3 NA NA NA NA rs4872078 0.57 0.57 0.548 0.577476 0.4543 0.9732 0.6182 0.2678 0.6861 0.46 0.98 0.58 0.25 0.5251 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628152 NA NA 0.457791 0.304131 NA 0.341 NA 2.562809 1396 14 69798284 69798284 G A intronic GALNT16 NA NA NA intronic ENSG00000100626 NA NA NA NA NA 14q24.1 NA NA NA NA rs1147461 0.46 0.46 0.436 0.44988 0.4841 0.5645 0.5735 0.1861 0.5654 0.51 0.57 0.56 0.19 0.4861 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845039 NA NA 0.467442 0.253064 NA 0.449 NA 2.562358 1396 1 7807897 7807897 A G intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs12133253 0.63 0.63 0.599 0.605831 0.7157 0.4702 0.7767 0.5779 0.5491 0.71 0.46 0.72 0.62 NA 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51618 NA NA 0.722187 0.604046 NA 0.558 NA 2.562113 1396 5 43535754 43535754 G C intronic PAIP1 NA NA NA intronic ENSG00000172239 NA NA NA NA NA 5p12 NA NA NA NA rs6869933 0.4 0.4 0.418 0.402556 0.503 0.0893 0.3818 0.6271 0.3333 0.48 0.09 0.43 0.63 0.4468 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122438 NA NA 0.488134 0.590599 NA 0.529 NA 2.562066 1396 20 44334588 44334588 C G intronic WFDC13 NA NA NA intronic ENSG00000168634 NA NA NA NA NA 20q13.12 NA NA NA NA rs232290 0.65 0.65 0.656 0.694688 0.4523 0.7966 0.4986 0.9024 0.6973 0.43 0.78 0.53 0.91 0.5404 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103444 NA NA 0.445581 0.809124 NA 0.63 NA 2.561719 1396 22 45755666 45755666 C T intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs1012493 0.36 0.36 0.334 0.298722 0.493 0.2996 0.4683 0.0817 0.271 0.5 0.34 0.43 0.1 0.4321 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103583 NA NA 0.513203 0.148043 NA 0.21 NA 2.561697 1396 1 1686962 1686962 C T intronic NADK NA NA NA intronic ENSG00000008130 NA NA NA NA NA 1p36.33 NA NA NA NA rs2076327 0.36 0.36 0.336 0.341853 0.493 0.3145 0.4078 0.1846 0.3804 0.49 0.32 0.41 0.18 0.4483 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601431 NA NA 0.497093 0.223786 NA 0.377 NA 2.561607 1396 7 100456611 100456611 G C intronic SLC12A9 NA NA NA intronic ENSG00000146828 NA NA NA NA NA 7q22.1 NA NA NA NA rs314374 0.48 0.48 0.442 0.463059 0.4622 0.8065 0.5879 0.0991 0.5133 0.46 0.81 0.54 0.1 0.5011 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.671233 NA NA 0.475116 0.181571 NA 0.362 NA 2.561584 1396 17 10546130 10546130 T G intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2285468 0.54 0.54 0.54 0.525958 0.7893 0.3859 0.5476 0.379 0.5828 0.78 0.37 0.55 0.37 0.6505 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.290627 NA NA NA NA NA 0.659 NA 2.5602 1396 21 47558591 47558591 A G intronic FTCD NA NA NA intronic ENSG00000160282 NA NA NA NA NA 21q22.3 NA NA NA NA rs62214031 0.38 0.38 0.353 0.394768 0.5268 0.2669 0.3127 0.3858 0.4611 0.51 0.25 0.35 0.36 0.4439 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48436 NA NA 0.469153 0.382945 NA 0.551 NA 2.560147 1396 19 11327571 11327571 C T intronic DOCK6 NA NA NA intronic ENSG00000130158 NA NA NA NA NA 19p13.2 NA NA NA NA rs4804150 0.32 0.32 0.287 0.278355 0.5368 0.2808 0.3084 0.0287 0.3262 0.53 0.27 0.34 0.03 0.4035 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009853 NA NA 0.499764 0.100047 NA 0.362 NA 2.559936 1396 20 54457983 54457983 A G intergenic DOK5,CBLN4 dist=1190273;dist=114430 NA NA intergenic ENSG00000235166,ENSG00000054803 dist=373231;dist=114513 NA NA NA NA 20q13.2 NA NA NA NA rs1370270 0.9 0.9 0.918 0.933107 0.7734 1 0.8977 0.9932 0.9724 0.78 1 0.88 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472871 NA NA NA NA NA 0.826 NA 2.5599334 1396 11 2356769 2356769 T C intergenic TSPAN32,CD81 dist=17339;dist=41778 NA NA ncRNA_exonic ENSG00000236264 NA NA NA Score=735;Name=lod=1300 NA 11p15.5 NA NA NA NA rs2651794 0.65 0.65 0.654 0.691893 0.8231 0.4554 0.7695 0.6422 0.8129 0.81 0.41 0.77 0.61 0.7771 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11989 NA NA 0.840005 0.677339 NA 0.775 NA 2.559795 1396 2 215855780 215855780 G A intronic ABCA12 NA NA NA intronic ENSG00000144452 NA NA NA NA NA 2q35 NA NA NA NA rs4533467 0.31 0.31 0.28 0.30012 0.495 0.2857 0.3256 0.031 0.4601 0.5 0.26 0.37 0.03 0.4433 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388142 NA NA 0.501978 0.112551 NA 0.297 NA 2.559722 1396 12 21614903 21614903 A G intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs3825287 0.49 0.49 0.475 0.48722 0.4483 0.5486 0.4841 0.4955 0.455 0.44 0.54 0.48 0.5 0.4969 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115141 NA NA 0.495929 0.48842 NA 0.522 NA 2.558871 1396 8 21959877 21959877 T G intronic FAM160B2 NA NA NA intronic ENSG00000158863 NA NA NA NA NA 8p21.3 NA NA NA NA rs7812435 0.8 0.8 0.81 0.794129 0.7048 0.9921 0.7839 0.7118 0.8006 0.72 0.99 0.75 0.72 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526571 NA NA 0.736541 0.740543 NA 0.239 NA 2.558659 1396 20 43600673 43600673 C G intronic STK4 NA NA NA intronic ENSG00000101109 NA NA NA NA NA 20q13.12 NA NA NA NA rs6130717 0.43 0.43 0.437 0.445487 0.5 0.2639 0.317 0.6725 0.3609 0.5 0.21 0.32 0.66 0.4508 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467498 NA NA 0.490698 0.61316 NA 0.551 NA 2.558502 1396 3 124281980 124281980 T C intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs2256831 0.67 0.67 0.699 0.657149 0.495 0.8641 0.5706 0.8464 0.4162 0.49 0.85 0.54 0.83 0.5129 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679958 NA NA 0.433976 0.79798 NA 0.645 NA 2.558124 1396 3 9859456 9859456 C G intronic ARPC4-TTLL3,TTLL3 NA NA NA intronic ENSG00000214021,ENSG00000250151 NA NA NA NA NA 3p25.3 NA NA NA NA rs3806672 0.32 0.32 0.305 0.265575 0.5616 0.1498 0.3012 0.1278 0.2413 0.57 0.15 0.34 0.13 0.3959 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.779363 4.779363 NA 0.485209 0.175492 NA 0.413 NA 2.557291 1396 20 31388636 31388636 T C intronic DNMT3B NA NA NA intronic ENSG00000088305 NA NA NA NA NA 20q11.21 NA NA NA NA rs2424928 0.71 0.71 0.679 0.742612 0.4205 0.9931 0.6542 0.8661 0.7117 0.43 0.99 0.63 0.85 0.5737 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611431 NA NA 0.448953 0.783023 NA 0.587 NA 2.556847 1396 5 1212647 1212647 C T intronic SLC6A19 NA NA NA intronic ENSG00000174358 NA NA NA NA NA 5p15.33 NA NA NA NA rs13180809 0.34 0.34 0.334 0.316094 0.5278 0.2847 0.2709 0.1604 0.3732 0.5 0.27 0.31 0.18 0.4174 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429526 NA NA 0.498487 0.191731 NA 0.29 NA 2.556313 1396 7 30876432 30876432 A G ncRNA_intronic INMT-FAM188B NA NA NA intronic ENSG00000106125,ENSG00000254959 NA NA NA NA NA 7p14.3 NA NA NA NA rs10258097 0.63 0.63 0.64 0.688498 0.5686 0.5208 0.5173 0.944 0.7607 0.56 0.56 0.53 0.91 0.6209 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134236 NA NA 0.588046 0.896964 NA 0.551 NA 2.5557873 1396 3 53912341 53912341 C A intronic ACTR8 NA NA NA intronic ENSG00000113812 NA NA NA NA NA 3p21.1 NA NA NA NA rs3733081 0.68 0.68 0.697 0.711062 0.4523 0.9444 0.6282 0.7852 0.6953 0.43 0.95 0.62 0.79 0.5588 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760214 NA NA 0.43314 0.730595 NA 0.703 NA 2.55576 1396 9 15784496 15784496 C G intronic CCDC171 NA NA NA intronic ENSG00000164989 NA NA NA NA NA 9p22.3 NA NA NA NA rs2382540 0.41 0.41 0.418 0.447484 0.4742 0.3651 0.3631 0.4455 0.5675 0.48 0.35 0.38 0.42 0.472 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.538046 NA NA 0.49814 0.457766 NA 0.399 NA 2.55566 1396 17 8194318 8194318 G A intronic SLC25A35 NA NA NA intronic ENSG00000125434 NA NA NA NA NA 17p13.1 NA NA NA NA rs72835272 0.28 0.28 0.289 0.314297 0.5239 0.2381 0.3055 0.1301 0.4325 0.44 0.2 0.31 0.11 0.4301 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03084 NA NA 0.490465 0.197004 NA NA NA 2.555535 1397 22 45754558 45754558 A G intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs5765281 0.36 0.36 0.335 0.299321 0.494 0.2986 0.4726 0.0817 0.271 0.51 0.34 0.43 0.1 0.4328 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431332 NA NA 0.518833 0.152463 NA 0.21 NA 2.554367 1397 9 97221434 97221434 G A intronic HIATL1 NA NA NA intronic ENSG00000148110 NA NA NA NA NA 9q22.32 NA NA NA NA rs9409765 0.52 0.52 0.48 0.504992 0.4672 0.3919 0.6412 0.5461 0.5082 0.49 0.39 0.64 0.62 0.5016 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.285794 NA NA 0.478372 0.522242 NA 0.435 NA 2.552828 1397 5 60083275 60083275 C A intronic ELOVL7 NA NA NA UTR5 ENSG00000164181 ENST00000438340:c.-51G>T,ENST00000504455:c.-51G>T NA NA NA NA 5q12.1 NA NA NA NA rs10072745 0.68 0.68 0.684 0.640974 0.5358 0.8998 0.5605 0.711 0.4448 0.55 0.91 0.54 0.69 0.557 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141552 NA NA 0.521279 0.671513 NA 0.616 NA 2.5525877 1397 20 256573 256573 A G intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA NA NA rs6075567 0.49 0.49 0.48 0.46885 0.4881 0.5139 0.3862 0.5166 0.3967 0.5 0.55 0.39 0.47 0.4678 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139962 NA NA 0.491977 0.511802 NA 0.464 NA 2.552123 1397 4 73793749 73793749 T C intergenic ADAMTS3,COX18 dist=359233;dist=126667 NA NA intergenic ENSG00000270665,ENSG00000252955 dist=119840;dist=37146 NA NA NA NA 4q13.3 NA NA NA NA rs7663680 0.81 0.81 0.792 0.819089 0.7813 0.9683 0.6542 0.7239 0.9499 0.79 0.98 0.69 0.72 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93597 NA NA NA NA NA 0.746 NA 2.5520334 1397 6 52712645 52712645 C G intergenic GSTA5,GSTA3 dist=1752;dist=48794 NA NA downstream ENSG00000230375 NA NA NA NA NA 6p12.2 NA NA NA NA rs9296694 0.92 0.92 0.9 0.890775 0.9483 0.8681 0.9669 0.8464 0.8609 0.95 0.91 0.98 0.85 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605786 NA NA NA NA NA 0.935 NA 2.5517 1397 9 125761051 125761051 G A intronic RABGAP1 NA NA NA intronic ENSG00000011454 NA NA NA NA NA 9q33.2 NA Name=FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs605546 0.5 0.5 0.445 0.490815 0.8509 0.3095 0.5821 0.0605 0.8241 0.88 0.29 0.62 0.09 0.7249 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.28568 NA NA 0.873197 0.176885 ID=COSM150705,COSM150706;OCCURENCE=1(stomach) 0.486 NA 2.551003 1397 16 57103854 57103854 T C intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs289711 0.38 0.38 0.368 0.379992 0.4761 0.2897 0.3948 0.3366 0.4223 0.48 0.3 0.42 0.29 0.5006 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674861 NA NA 0.472695 0.366865 NA 0.37 NA 2.550605 1397 8 144462169 144462169 A G intronic RHPN1 NA NA NA intronic ENSG00000158106 NA NA NA NA NA 8q24.3 NA Name=E2F6 NA NA rs3812440 0.75 0.75 0.742 0.764577 0.8171 0.7778 0.8242 0.5772 0.908 0.83 0.78 0.82 0.56 0.8091 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.215331 NA NA 0.823415 0.631296 NA 0.732 NA 2.550385 1397 3 96387596 96387596 G A intergenic LOC100287639,EPHA6 dist=985559;dist=145829 NA NA intergenic ENSG00000212031,ENSG00000241018 dist=2473;dist=84433 NA NA NA NA 3q11.2 NA NA NA NA rs3884654 0.7 0.7 0.683 0.702476 0.7833 0.7391 0.7349 0.4864 0.8507 0.78 0.75 0.74 0.51 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94428 NA NA NA NA NA 0.638 NA 2.5500334 1397 12 52635443 52635443 T C intronic KRT7 NA NA NA intronic ENSG00000135480 NA NA NA NA NA 12q13.13 NA Name=CTCF,CTCF_(SC-5916) NA NA rs2243588 0.85 0.85 0.851 0.853435 0.8191 0.9028 0.8343 0.851 0.8548 0.83 0.9 0.78 0.87 0.8272 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397502 NA NA 0.803721 0.838402 NA 0.79 NA 2.549979 1397 17 18678548 18678548 C T intronic FBXW10 NA NA NA intronic ENSG00000171931 NA NA NA NA NA 17p11.2 NA NA NA NA rs4630608 0.43 0.43 0.447 0.39996 0.497 0.2688 0.4726 0.4713 0.2873 0.5 0.29 0.46 0.46 0.4532 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.167157 NA NA 0.5 0.481472 NA 0.507 NA 2.5498 1397 7 87178626 87178626 C T intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs2235013 0.46 0.46 0.441 0.465056 0.493 0.375 0.5461 0.5151 0.4039 0.48 0.35 0.51 0.51 0.4621 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178381 NA NA 0.495116 0.466636 NA 0.464 NA 2.549784 1397 11 18771041 18771041 G C intronic PTPN5 NA NA NA intronic ENSG00000110786 NA NA NA NA NA 11p15.1 NA NA NA NA rs2028897 0.72 0.72 0.661 0.705671 0.7247 0.8056 0.7752 0.5333 0.7669 0.72 0.83 0.8 0.54 0.7256 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600382 NA NA NA NA NA 0.79 NA 2.5497 1397 17 15217389 15217389 G A intronic TEKT3 NA NA NA intronic ENSG00000125409 NA NA NA NA NA 17p12 NA NA NA NA rs230897 0.53 0.53 0.505 0.535743 0.4722 0.6081 0.4481 0.562 0.5532 0.5 0.63 0.43 0.52 0.4952 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704828 NA NA 0.482907 0.532456 NA 0.58 NA 2.549693 1397 21 34837623 34837623 C A intronic TMEM50B NA NA NA intronic ENSG00000142188,ENSG00000159128 NA NA NA NA NA 21q22.11 NA NA NA NA rs2248820 0.66 0.66 0.652 0.684105 0.4453 0.8125 0.5951 0.8548 0.6299 0.46 0.83 0.57 0.84 0.5504 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589188 NA NA 0.454651 0.810032 NA 0.696 NA 2.549649 1397 1 167059462 167059462 G C intronic GPA33 NA NA NA intronic ENSG00000143167 NA NA NA NA NA 1q24.1 NA NA NA NA rs2281963 0.41 0.41 0.413 0.383586 0.5348 0.1736 0.3429 0.5605 0.2342 0.51 0.18 0.39 0.55 0.4204 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300543 NA NA 0.496163 0.538357 NA 0.486 NA 2.548637 1397 8 95853708 95853708 G A intronic INTS8 NA NA NA intronic ENSG00000164941 NA NA NA NA NA 8q22.1 NA NA NA NA rs11996455 0.52 0.52 0.503 0.524561 0.501 0.6548 0.5634 0.3775 0.5859 0.51 0.63 0.57 0.39 0.4989 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831662 NA NA 0.451617 0.430322 NA 0.543 NA 2.548483 1397 21 43826391 43826391 T C intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA NA NA NA rs3746924 0.47 0.47 0.451 0.466254 0.4712 0.4623 0.4121 0.5333 0.4131 0.48 0.45 0.44 0.51 0.4696 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.626504 NA NA 0.510814 0.517476 NA 0.486 NA 2.548386 1397 9 129740101 129740101 G T intronic RALGPS1 NA NA NA intronic ENSG00000136828 NA NA NA NA NA 9q33.3 NA NA NA NA rs10819259 0.59 0.59 0.543 0.580272 0.7346 0.8185 0.5562 0.1369 0.7924 0.75 0.78 0.56 0.15 NA 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388871 NA NA 0.717473 0.232659 NA 0.536 NA 2.547927 1397 4 57219523 57219523 A G intronic AASDH NA NA NA intronic ENSG00000157426 NA NA NA NA NA 4q12 NA NA NA NA rs6554347 0.4 0.4 0.394 0.397165 0.502 0.3075 0.3545 0.382 0.4325 0.5 0.29 0.37 0.37 0.4598 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674849 NA NA 0.490465 0.374489 NA 0.42 NA 2.547735 1397 17 4778487 4778487 G A intronic MINK1 NA NA NA intronic ENSG00000141503 NA NA NA NA NA 17p13.2 NA NA NA NA rs8078776 0.49 0.49 0.474 0.463059 0.7237 0.1339 0.6599 0.4002 0.4796 0.72 0.13 0.69 0.43 NA 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647293 NA NA 0.729415 0.455202 NA 0.667 NA 2.546885 1397 15 90969335 90969335 G T intronic IQGAP1 NA NA NA intronic ENSG00000140575 NA NA NA NA NA 15q26.1 NA NA NA NA rs2256388 0.65 0.65 0.666 0.678115 0.4423 0.8185 0.6484 0.8147 0.6125 0.45 0.83 0.57 0.82 0.5566 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603946 NA NA 0.454514 0.770246 NA 0.725 NA 2.546586 1397 14 105207134 105207134 A G intronic ADSSL1 NA NA NA intronic ENSG00000185100 NA NA NA NA NA 14q32.33 NA NA NA NA rs3803307 0.61 0.61 0.579 0.666334 0.4483 0.6458 0.6599 0.8669 0.6452 0.43 0.62 0.65 0.85 0.5451 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813498 NA NA 0.460349 0.82433 NA 0.616 NA 2.546251 1397 11 118037813 118037813 G T intronic SCN2B NA NA NA intronic ENSG00000149575 NA NA NA NA NA 11q23.3 NA NA NA NA rs8192613 0.54 0.54 0.528 0.514377 0.4811 0.7758 0.5202 0.3381 0.5133 0.5 0.79 0.49 0.33 0.5022 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387994 NA NA 0.47067 0.374488 NA 0.428 NA 2.54603 1397 11 902939 902939 G A intronic CHID1 NA NA NA intronic ENSG00000177830 NA NA NA NA NA 11p15.5 NA NA NA NA rs12799186 0.39 0.39 0.336 0.324081 0.5169 0.2401 0.5677 0.211 0.1922 0.51 0.28 0.54 0.2 0.4388 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501828 NA NA 0.498488 0.240127 NA 0.471 NA 2.545812 1397 16 570623 570623 G A intronic RAB11FIP3 NA NA NA intronic ENSG00000090565 NA NA NA NA NA 16p13.3 NA NA NA NA rs2071978 0.5 0.5 0.475 0.533946 0.4662 0.5774 0.6153 0.348 0.7526 0.48 0.56 0.59 0.38 0.5263 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319482 NA NA 0.462209 0.344843 ID=COSN165085;OCCURENCE=2(breast),1(NS),1(haematopoietic_and_lymphoid_tissue),1(pancreas),1(skin),1(lung) 0.297 NA 2.545291 1397 10 106159305 106159305 G A intronic CCDC147 NA NA NA intronic ENSG00000120051 NA NA NA NA NA 10q25.1 NA NA NA NA rs10509772 0.56 0.56 0.587 0.553115 0.4851 0.5099 0.4164 0.7852 0.4509 0.48 0.52 0.48 0.8 0.4937 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366168 NA NA 0.47593 0.72424 NA 0.594 NA 2.54527 1397 2 234235749 234235749 G C intronic SAG NA NA NA intronic ENSG00000130561 NA NA NA NA NA 2q37.1 NA NA NA NA rs2304774 0.38 0.38 0.364 0.366813 0.5219 0.3849 0.3055 0.1392 0.5399 0.51 0.39 0.37 0.16 0.4406 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.4145 NA NA 0.492295 0.199328 NA 0.333 NA 2.545205 1397 2 29386646 29386646 G C intronic CLIP4 NA NA NA intronic ENSG00000115295 NA NA NA NA NA 2p23.2 NA NA NA NA rs10200936 0.64 0.64 0.634 0.656949 0.4652 0.875 0.6484 0.6452 0.6513 0.46 0.87 0.62 0.67 0.547 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304155 NA NA 0.442674 0.618929 NA 0.616 NA 2.545126 1398 2 170099899 170099899 G A intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs2075254 0.54 0.54 0.502 0.61861 0.4632 0.4772 0.6383 0.7201 0.773 0.46 0.46 0.63 0.69 0.5373 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605488 NA NA 0.455 0.690195 NA 0.616 NA 2.5445 1398 11 9072140 9072140 C T intronic SCUBE2 NA NA NA ncRNA_intronic ENSG00000253973 NA NA NA NA NA 11p15.4 NA NA NA NA rs3751052 0.61 0.61 0.615 0.616613 0.6123 0.6329 0.6988 0.6301 0.5276 0.61 0.61 0.64 0.61 0.5939 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443397 1.443397 NA 0.58345 0.646297 NA 0.616 NA 2.5436833 1398 2 170099446 170099446 T G intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs831041 0.54 0.54 0.513 0.61861 0.4632 0.4772 0.6383 0.7201 0.773 0.46 0.46 0.63 0.69 0.5383 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.140666 NA NA 0.455698 0.691557 NA 0.609 NA 2.542802 1398 22 32097775 32097775 T C intronic PRR14L NA NA NA intronic ENSG00000183530 NA NA NA NA NA 22q12.2 NA NA NA NA rs6518754 0.37 0.37 0.365 0.351637 0.5139 0.3313 0.3112 0.205 0.4325 0.51 0.33 0.36 0.22 0.4392 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.257553 1.257553 NA 0.504186 0.264866 ID=COSN166738;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.333 NA 2.542714 1398 6 26094367 26094367 G A intronic HFE NA NA NA intronic ENSG00000010704 NA NA NA NA NA 6p22.2 NA NA NA NA rs1572982 0.6 0.6 0.586 0.590655 0.4722 0.6954 0.5793 0.6377 0.5491 0.46 0.76 0.57 0.66 0.5146 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705875 NA NA 0.470814 0.606673 ID=COSN167717;OCCURENCE=1(large_intestine) 0.587 NA 2.542386 1398 18 77246978 77246978 G A intronic NFATC1 NA NA NA intronic ENSG00000131196 NA NA NA NA NA 18q23 NA NA NA NA rs754096 0.43 0.43 0.415 0.40595 0.507 0.4653 0.4438 0.1891 0.5072 0.51 0.49 0.5 0.21 0.4735 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247068 NA NA 0.47729 0.21781 NA 0.362 NA 2.54221 1398 14 39784014 39784014 A G intronic CTAGE5 NA NA NA intronic ENSG00000150527,ENSG00000258941 NA NA NA NA NA 14q21.1 NA NA NA NA rs2415539 NA NA NA 0.701877 0.8469 0.7659 0.719 0.4667 0.7924 NA NA NA NA NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975002 NA NA 0.611629 0.355 NA 0.232 NA 2.541471 1398 1 207263829 207263829 A G intronic C4BPB NA NA NA intronic ENSG00000123843 NA NA NA NA NA 1q32.2 NA NA NA NA rs6690037 0.47 0.47 0.43 0.44349 0.4702 0.747 0.536 0.0658 0.5481 0.48 0.79 0.51 0.06 0.5017 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.034097 NA NA 0.486977 0.143895 NA 0.348 NA 2.541123 1398 2 98169742 98169742 A C intronic ANKRD36B NA NA NA ncRNA_intronic ENSG00000196912 NA NA NA NA NA 2q11.2 NA NA NA NA rs12998184 0.39 0.39 0.301 0.296925 0.6402 0.2282 0.4164 0.1044 0.1902 0.63 0.27 0.47 0.11 0.5119 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.162064 NA NA 0.640455 0.198822 NA 0.355 NA 2.5407783 1398 20 5169877 5169877 A G intronic CDS2 NA NA NA intronic ENSG00000101290 NA NA NA NA NA 20p12.3 NA NA NA NA rs6038087 0.48 0.48 0.515 0.518371 0.4732 0.2421 0.3876 0.7315 0.6544 0.5 0.27 0.42 0.72 0.4899 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202609 NA NA 0.496512 0.686337 NA 0.587 NA 2.540388 1398 8 40554742 40554742 C T intronic ZMAT4 NA NA NA intronic ENSG00000165061 NA NA NA NA NA 8p11.21 NA NA NA NA rs11781516 0.54 0.54 0.545 0.570288 0.4702 0.5546 0.562 0.6604 0.5736 0.46 0.55 0.56 0.64 0.5191 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796353 NA NA 0.471977 0.619383 NA 0.587 NA 2.538723 1398 7 128371206 128371206 G A UTR3 FAM71F1 NM_032599:c.*39G>A NA NA UTR3 ENSG00000135248 ENST00000485070:c.*39G>A,ENST00000484425:c.*511G>A,ENST00000315184:c.*39G>A NA NA NA NA 7q32.1 NA NA NA NA rs339066 0.68 0.68 0.68 0.70627 0.5875 0.753 0.7032 0.7753 0.6892 0.6 0.77 0.67 0.72 0.6383 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20653 NA NA 0.569419 0.740808 NA 0.696 NA 2.5381144 1398 12 52943144 52943144 G A intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs4761930 0.39 0.39 0.35 0.326877 0.506 0.499 0.4726 0.0272 0.2669 0.5 0.47 0.49 0.05 0.4416 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.091141 NA NA 0.514302 0.101453 NA 0.384 NA 2.538098 1398 5 958621 958621 G A intergenic TRIP13,LOC100506688 dist=40457;dist=29804 NA NA intergenic ENSG00000248949,ENSG00000250173 dist=1986;dist=20859 NA NA NA NA 5p15.33 NA NA NA NA rs11134356 0.74 0.74 0.675 0.743011 0.7962 0.7014 0.8718 0.6498 0.7658 0.8 0.69 0.86 0.63 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607254 NA NA NA NA NA 0.377 NA 2.5371334 1398 16 65005462 65005462 G A intronic CDH11 NA NA NA intronic ENSG00000140937 NA NA NA NA NA 16q21 NA NA NA NA rs12597529 0.53 0.53 0.543 0.547324 0.4761 0.7907 0.5605 0.2927 0.7045 0.49 0.77 0.49 0.33 0.5274 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.664014 1.664014 NA 0.460349 0.326827 NA 0.471 NA 2.536151 1398 7 142124424 142124424 T G intergenic LOC730441,MTRNR2L6 dist=152356;dist=249707 NA NA exonic ENSG00000253534 NA synonymous SNV ENSG00000253534:ENST00000390376:exon2:c.A54C:p.P18P NA NA 7q34 NA NA NA NA rs361449 0.9 0.9 0.85 0.885982 0.999 1 0.964 0.5885 0.999 1 1 0.95 0.59 0.965 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021193 NA NA NA NA NA 0.833 NA 2.536 1399 6 90453248 90453248 T C intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs2273245 0.66 0.66 0.637 0.605631 0.4622 0.9077 0.7003 0.6006 0.3814 0.48 0.92 0.67 0.62 0.5363 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316179 NA NA 0.466512 0.60168 NA 0.507 NA 2.534988 1399 1 19981791 19981791 A G intronic C1orf151-NBL1,NBL1 NA NA NA intronic ENSG00000158747,ENSG00000270136 NA NA NA NA NA 1p36.13 NA NA NA NA rs2294630 0.46 0.46 0.447 0.455871 0.508 0.1677 0.4827 0.6997 0.3507 0.53 0.15 0.49 0.71 0.4761 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.320927 NA NA 0.481744 0.657512 NA 0.486 NA 2.534156 1399 2 128050134 128050134 T C intronic ERCC3 NA NA NA intronic ENSG00000163161 NA NA NA NA NA 2q14.3 NA NA NA NA rs4150402 0.84 0.84 0.803 0.82488 0.7505 0.999 0.8573 0.7738 0.7679 0.76 1 0.86 0.77 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406958 NA NA 0.71547 0.784247 NA 0.667 NA 2.53403 1399 8 72942210 72942210 G T ncRNA_intronic LOC100132891 NA NA NA intronic ENSG00000104321,ENSG00000235531 NA NA NA NA NA 8q13.3 NA NA NA NA rs3824151 0.65 0.65 0.577 0.675919 0.5726 0.6935 0.7536 0.6732 0.7127 0.59 0.7 0.71 0.64 0.6369 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066811 NA NA 0.590465 0.653427 NA 0.725 NA 2.5333683 1399 1 200967490 200967490 A G intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs10920089 0.6 0.6 0.577 0.591454 0.4692 0.627 0.4669 0.8722 0.3896 0.46 0.65 0.47 0.85 0.5203 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096274 NA NA 0.477326 0.80345 NA 0.594 NA 2.533174 1399 1 1669734 1669734 G T intronic SLC35E2 NA NA NA intronic ENSG00000215790 NA NA NA NA NA 1p36.33 NA NA NA NA rs61777512 0.33 0.33 0.293 0.288339 0.4871 0.3016 0.3127 0.0764 0.3395 0.48 0.32 0.34 0.08 0.4676 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374913 NA NA 0.512392 0.137523 NA 0.159 NA 2.532908 1399 14 50750577 50750577 A G intronic L2HGDH NA NA NA UTR3 ENSG00000087299 ENST00000555610:c.*158T>C NA NA NA NA 14q21.3 NA NA NA NA rs12433038 0.51 0.51 0.483 0.504792 0.5447 0.6399 0.4755 0.3623 0.5378 0.54 0.63 0.46 0.34 0.5396 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304929 NA NA 0.549884 0.401498 NA 0.355 NA 2.5324827 1399 1 11137778 11137778 C T intronic EXOSC10 NA NA NA intronic ENSG00000171824 NA NA NA NA NA 1p36.22 NA NA NA NA rs2259886 0.59 0.59 0.557 0.533347 0.7416 0.7411 0.7032 0.0598 0.6247 0.75 0.77 0.7 0.08 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795121 NA NA 0.725959 0.164017 NA 0.551 NA 2.532441 1399 19 10265248 10265248 T C intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs2114724 0.54 0.54 0.495 0.533347 0.4612 0.6498 0.4553 0.5159 0.5665 0.46 0.65 0.47 0.56 0.518 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914084 NA NA 0.488488 0.487744 NA 0.623 NA 2.532312 1399 22 24122499 24122499 G A intronic MMP11 NA NA NA intronic ENSG00000099953 NA NA NA NA NA 22q11.23 NA NA NA NA rs9612427 0.37 0.37 0.344 0.333866 0.5189 0.3244 0.5447 0.0681 0.363 0.51 0.35 0.52 0.08 0.4398 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.378595 NA NA 0.510116 0.137602 NA 0.304 NA 2.531184 1399 20 33037336 33037336 C T intronic ITCH NA NA NA intronic ENSG00000078747 NA NA NA NA NA 20q11.22 NA NA NA NA rs3736762 0.42 0.42 0.406 0.393171 0.504 0.4038 0.3069 0.3419 0.3988 0.53 0.41 0.37 0.3 0.463 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762625 NA NA 0.502209 0.366319 NA 0.435 NA 2.530791 1399 8 72962985 72962985 G A ncRNA_intronic LOC100132891 NA NA NA intronic ENSG00000104321,ENSG00000235531 NA NA NA NA NA 8q13.3 NA NA NA NA rs2120474 0.65 0.65 0.615 0.677915 0.5726 0.6935 0.7536 0.68 0.7137 0.59 0.7 0.71 0.64 0.6389 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464468 NA NA 0.591047 0.657512 NA 0.725 NA 2.5307863 1399 4 9785134 9785134 T C UTR3 DRD5 NM_000798:c.*47T>C NA NA UTR3 ENSG00000169676 ENST00000304374:c.*47T>C NA NA NA NA 4p16.1 NA NA NA NA rs1967551 0.46 0.46 0.431 0.425519 0.5815 0.3254 0.5058 0.3411 0.4254 0.6 0.35 0.54 0.32 0.5709 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254104 NA NA 0.650246 0.410069 NA 0.145 NA 2.5306874 1399 10 26310410 26310410 T C intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3737275 0.48 0.48 0.46 0.469449 0.501 0.6181 0.4769 0.2481 0.5777 0.51 0.62 0.46 0.27 0.5001 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132826 NA NA 0.468372 0.298003 NA 0.333 NA 2.530528 1399 4 54362150 54362150 G A intronic LNX1 NA NA NA intronic ENSG00000072201,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs6836800 0.39 0.39 0.386 0.329872 0.5149 0.3423 0.5029 0.1717 0.2178 0.53 0.36 0.46 0.18 0.448 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33927 NA NA 0.506628 0.24217 NA 0.341 NA 2.530472 1399 11 113264511 113264511 C G intronic ANKK1 NA NA NA intronic ENSG00000170209 NA NA NA NA NA 11q23.2 NA NA NA NA rs11214596 0.26 0.26 0.253 0.233027 0.5308 0.0655 0.3098 0.0303 0.319 0.53 0.06 0.36 0.03 0.412 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155274 NA NA 0.526908 0.122121 NA 0.181 NA 2.530292 1399 18 21119291 21119291 A G intronic NPC1 NA NA NA intronic ENSG00000141458 NA NA NA NA NA 18q11.2 NA NA NA NA rs6507720 0.59 0.59 0.575 0.58766 0.4583 0.6111 0.6311 0.7337 0.4683 0.47 0.64 0.58 0.72 0.5398 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19085 NA NA 0.47186 0.697458 NA 0.638 NA 2.53004 1399 19 20976742 20976742 A G intergenic ZNF626,ZNF85 dist=132340;dist=129317 NA NA UTR3 ENSG00000160229 ENST00000360204:c.*44A>G NA NA NA NA 19p12 NA NA NA NA rs1808542 0.63 0.63 0.604 0.612021 0.6581 0.5913 0.5447 0.6218 0.6207 0.68 0.61 0.57 0.62 0.6458 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273471 NA NA NA NA NA 0.674 NA 2.5294334 1399 11 6807243 6807243 G A UTR3 OR2AG1 NM_001004489:c.*24G>A NA NA UTR3 ENSG00000170803 ENST00000307401:c.*24G>A NA NA NA NA 11p15.4 NA NA NA NA rs497681 0.59 0.59 0.567 0.565895 0.6312 0.6329 0.4928 0.534 0.5245 0.63 0.65 0.52 0.5 0.5763 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23422 NA NA 0.596834 0.544525 NA 0.572 NA 2.5289994 1399 5 52370174 52370174 G A intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs3212591 0.47 0.47 0.479 0.444888 0.496 0.3175 0.5086 0.4894 0.4182 0.51 0.36 0.5 0.52 0.4769 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135326 NA NA 0.498372 0.495007 NA 0.543 NA 2.528728 1399 6 160207049 160207049 T C intronic TCP1 NA NA NA UTR3 ENSG00000120438 ENST00000538530:c.*116A>G NA NA NA NA 6q25.3 NA NA NA NA rs2273828 0.36 0.36 0.33 0.364018 0.5427 0.1637 0.5965 0.1657 0.4898 0.55 0.15 0.57 0.17 0.5226 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492994 NA NA 0.573605 0.218764 NA 0.312 NA 2.5277617 1399 10 27475494 27475494 T C UTR3 MASTL NM_032844:c.*29T>C,NM_001172303:c.*29T>C,NM_001172304:c.*29T>C NA NA UTR3 ENSG00000120539 ENST00000375946:c.*29T>C,ENST00000342386:c.*29T>C,ENST00000375940:c.*29T>C NA NA NA NA 10p12.1 NA NA NA NA rs10764686 0.43 0.43 0.404 0.39996 0.6014 0.4563 0.4942 0.1309 0.4315 0.59 0.41 0.52 0.15 0.5588 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.621783 2.621783 NA 0.645581 0.218566 NA 0.399 NA 2.5275524 1399 6 89895207 89895207 G A intronic GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs364936 0.4 0.4 0.396 0.354233 0.508 0.3075 0.464 0.2126 0.3579 0.52 0.34 0.49 0.25 0.4534 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.928453 1.928453 NA 0.511744 0.28552 NA 0.413 NA 2.526856 1399 16 77775459 77775459 G A intronic NUDT7 NA NA NA ncRNA_exonic ENSG00000261707 NA NA NA NA NA 16q23.1 NA NA NA NA rs11648791 0.47 0.47 0.455 0.436901 0.5905 0.374 0.4957 0.3313 0.4448 0.6 0.37 0.52 0.35 0.5732 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075412 NA NA 0.643328 0.380032 NA 0.413 NA 2.5263053 1399 6 89895202 89895202 G A intronic GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs406462 0.4 0.4 0.389 0.354433 0.508 0.3075 0.464 0.2126 0.3589 0.52 0.34 0.49 0.25 0.4534 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.554183 NA NA 0.512442 0.28552 NA 0.413 NA 2.526158 1399 14 74874707 74874707 A G intronic SYNDIG1L NA NA NA intronic ENSG00000183379 NA NA NA NA NA 14q24.3 NA NA NA NA rs2884545 0.47 0.47 0.448 0.450879 0.495 0.4097 0.4207 0.4622 0.454 0.51 0.43 0.46 0.47 0.4781 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224774 NA NA 0.501279 0.460718 ID=COSN164738;OCCURENCE=1(NS) 0.428 NA 2.525621 1399 7 142139272 142139272 G A intergenic LOC730441,MTRNR2L6 dist=167204;dist=234859 NA NA downstream ENSG00000211727 NA NA NA NA NA 7q34 Score=699;Name=V$PPARG_02 NA NA NA rs138227832 0.67 0.67 0.901 0.994808 1 1 1 0.9803 1 0.65 0.72 0.67 0.62 0.9745 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195783 NA NA NA NA NA NA NA 2.5255 1399 20 25190598 25190598 A G intronic ENTPD6 NA NA NA intronic ENSG00000197586 NA NA NA NA NA 20p11.21 NA NA NA NA rs1007707 0.64 0.64 0.655 0.632188 0.4861 0.9107 0.3818 0.7345 0.5348 0.49 0.92 0.43 0.71 0.5139 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286583 NA NA 0.474535 0.68384 NA 0.572 NA 2.525465 1399 7 142139271 142139271 T C intergenic LOC730441,MTRNR2L6 dist=167203;dist=234860 NA NA downstream ENSG00000211727 NA NA NA NA NA 7q34 Score=699;Name=V$PPARG_02 NA NA NA rs146977487 0.67 0.67 0.907 0.994808 1 1 1 0.9803 1 0.66 0.71 0.67 0.63 0.9747 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683943 NA NA NA NA NA NA NA 2.5253 1399 19 39924129 39924129 T C intronic RPS16 NA NA NA UTR3 ENSG00000105193 ENST00000602153:c.*25A>G NA NA NA NA 19q13.2 NA NA NA NA rs566130 0.6 0.6 0.624 0.654553 0.5547 0.5873 0.5274 0.8563 0.6442 0.56 0.53 0.54 0.81 0.5721 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090668 NA NA 0.514767 0.805266 NA 0.558 NA 2.5250997 1399 17 7193255 7193255 G A intronic YBX2 NA NA NA intronic ENSG00000006047 NA NA NA NA NA 17p13.1 NA NA NA NA rs3744405 0.39 0.39 0.35 0.363219 0.498 0.3373 0.4452 0.264 0.3272 0.48 0.34 0.49 0.24 0.4538 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876301 NA NA 0.523156 0.299227 NA 0.348 NA 2.525044 1400 14 23856896 23856896 A G intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs178642 0.52 0.52 0.493 0.471645 0.4831 0.6062 0.536 0.41 0.3589 0.5 0.64 0.52 0.43 0.4957 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.121342 2.121342 NA 0.496512 0.411711 ID=COSN164633;OCCURENCE=1(breast) 0.493 NA 2.524688 1400 19 3204172 3204172 A G intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs8106438 0.62 0.62 0.585 0.653954 0.4901 0.9147 0.5274 0.6044 0.7106 0.49 0.92 0.52 0.58 0.5368 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338896 NA NA 0.448718 0.58849 NA 0.594 NA 2.524382 1400 3 42005734 42005734 C A intergenic ULK4,TRAK1 dist=2074;dist=127012 NA NA intergenic ENSG00000168038,ENSG00000235339 dist=1812;dist=12766 NA NA NA NA 3p22.1 NA NA NA NA rs12492599 0.7 0.7 0.677 0.683906 0.8091 0.8522 0.8084 0.289 0.8272 0.8 0.84 0.8 0.29 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.676569 NA NA NA NA NA 0.659 NA 2.5242334 1400 5 168233413 168233413 G A intronic SLIT3 NA NA NA intronic ENSG00000184347 NA NA NA NA NA 5q34 NA NA NA NA rs3797716 0.53 0.53 0.534 0.550719 0.495 0.5942 0.4741 0.6142 0.5317 0.5 0.57 0.48 0.59 0.4967 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738668 NA NA 0.484302 0.591012 NA 0.471 NA 2.523998 1400 11 1220967 1220967 C T intergenic MUC2,MUC5B dist=116550;dist=23328 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=58606;dist=23329 NA NA NA NA 11p15.5 NA Name=GR NA NA rs1132436 0.56 0.56 0.564 0.492212 0.5944 0.6508 0.5533 0.2943 0.4479 0.59 0.72 0.58 0.3 0.6021 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781499 NA NA 0.613182 0.380892 NA 0.428 NA 2.5236514 1400 12 132683690 132683690 G A intronic GALNT9 NA NA NA intronic ENSG00000182870 NA NA NA NA NA 12q24.33 NA NA NA NA rs4074046 0.43 0.43 0.416 0.400359 0.502 0.3998 0.4049 0.3517 0.3589 0.52 0.39 0.4 0.35 0.4657 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344484 NA NA 0.509128 0.344793 NA 0.362 NA 2.523172 1400 9 75539077 75539077 G A intronic ALDH1A1 NA NA NA intronic ENSG00000165092 NA NA NA NA NA 9q21.13 NA NA NA NA rs3739962 0.39 0.39 0.358 0.415535 0.503 0.4544 0.4899 0.1831 0.547 0.5 0.38 0.44 0.2 0.4743 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15611 NA NA 0.499651 0.258057 NA 0.406 NA 2.523049 1400 16 30495412 30495412 T C intronic ITGAL NA NA NA ncRNA_intronic ENSG00000261346 NA NA NA NA NA 16p11.2 NA NA NA NA rs2285459 0.74 0.74 0.735 0.762979 0.5934 0.9921 0.7666 0.6808 0.8098 0.6 0.99 0.72 0.69 0.6572 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108792 NA NA 0.560116 0.656805 NA 0.652 NA 2.5226173 1400 17 75484781 75484781 T C intronic SEPT9 NA NA NA intronic ENSG00000184640 NA NA NA NA NA 17q25.3 NA NA NA NA rs370531 0.56 0.56 0.598 0.558506 0.4811 0.4931 0.4121 0.8411 0.4274 0.48 0.49 0.44 0.85 0.494 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263553 NA NA 0.502792 0.777273 NA 0.471 NA 2.522108 1400 22 29908154 29908154 G T intronic THOC5 NA NA NA intronic ENSG00000100296 NA NA NA NA NA 22q12.2 NA NA NA NA rs2007668 0.52 0.52 0.522 0.445887 0.5129 0.7242 0.379 0.3306 0.2935 0.52 0.73 0.41 0.37 0.4628 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906465 NA NA 0.502326 0.353382 NA 0.543 NA 2.521974 1400 6 51913240 51913240 G A intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.2 NA NA NA NA rs10948667 0.41 0.41 0.348 0.355631 0.503 0.4048 0.6009 0.1089 0.3129 0.51 0.41 0.59 0.13 0.4649 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463022 NA NA 0.510465 0.151158 NA 0.471 NA 2.521635 1400 7 138713715 138713715 G C intronic ZC3HAV1L NA NA NA intronic ENSG00000146858 NA NA NA NA NA 7q34 NA NA NA NA rs11767739 0.39 0.39 0.388 0.373602 0.504 0.2262 0.3357 0.3828 0.4059 0.5 0.23 0.38 0.4 0.4537 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.234884 3.234884 NA 0.521047 0.413073 NA 0.348 NA 2.521253 1400 9 90586043 90586043 G A intronic CDK20 NA NA NA intronic ENSG00000156345 NA NA NA NA NA 9q22.1 NA NA NA NA rs622418 0.33 0.33 0.324 0.32488 0.5109 0.1776 0.3429 0.1868 0.4591 0.51 0.19 0.35 0.19 0.4531 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017387 NA NA 0.515 0.230822 NA 0.42 NA 2.521 1400 19 57743039 57743039 T C intronic AURKC NA NA NA UTR5;UTR3 ENSG00000105146;ENSG00000105146 ENST00000598785:c.-115T>C;ENST00000601799:c.*282T>C NA NA NA NA 19q13.43 NA NA NA NA rs758098 0.87 0.87 0.862 0.868011 0.833 0.8502 0.8588 0.9372 0.8354 0.84 0.88 0.88 0.92 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52833 NA NA 0.814896 0.930636 NA 0.797 NA 2.5187707 1400 16 57073683 57073683 G C intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA Name=7 NA rs864750 0.88 0.88 0.893 0.868411 0.834 0.9385 0.83 0.9342 0.7699 0.83 0.94 0.83 0.94 0.8324 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195946 NA NA 0.815233 0.917652 NA 0.949 NA 2.518367 1400 3 37150988 37150988 C G intronic LRRFIP2 NA NA NA intronic ENSG00000093167 NA NA NA NA NA 3p22.2 NA NA NA NA rs6806252 0.46 0.46 0.464 0.421725 0.506 0.13 0.4524 0.6989 0.2393 0.51 0.13 0.52 0.7 0.4496 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07117 NA NA 0.52686 0.649342 NA 0.543 NA 2.51754 1400 12 123335488 123335488 G A intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA Name=72 NA rs2271049 0.79 0.79 0.767 0.767572 0.825 0.752 0.8948 0.7254 0.6912 0.83 0.74 0.89 0.74 0.8091 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.208828 2.208828 NA 0.848918 0.756468 NA 0.783 NA 2.516982 1400 12 27066350 27066350 C T intronic ASUN NA NA NA intronic ENSG00000064102 NA NA NA NA NA 12p11.23 NA NA NA NA rs3736227 0.57 0.57 0.559 0.579273 0.492 0.7609 0.4366 0.5514 0.6207 0.49 0.78 0.44 0.54 0.5182 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315792 NA NA 0.473133 0.514526 NA 0.522 NA 2.516667 1400 10 12292344 12292344 A G UTR3 CDC123 NM_006023:c.*8A>G NA NA UTR3 ENSG00000151465 ENST00000281141:c.*8A>G,ENST00000378900:c.*8A>G,ENST00000440613:c.*8A>G NA NA NA NA 10p13 NA NA NA NA rs10951 0.67 0.67 0.685 0.652556 0.5974 0.6062 0.6052 0.7292 0.6871 0.6 0.69 0.66 0.74 0.6213 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092109 NA NA 0.598256 0.687018 NA 0.587 NA 2.5163774 1400 6 160468383 160468383 T C intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs998074 0.57 0.57 0.559 0.573083 0.4841 0.6925 0.4885 0.6203 0.5378 0.49 0.71 0.48 0.59 0.5357 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587255 NA NA 0.464651 0.592601 NA 0.681 NA 2.515549 1400 5 35033706 35033706 T C intronic AGXT2 NA NA NA intronic ENSG00000113492 NA NA NA NA NA 5p13.2 NA NA NA NA rs2291702 0.48 0.48 0.462 0.493011 0.4891 0.6726 0.5605 0.1982 0.6626 0.49 0.69 0.5 0.18 0.5118 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.28377 4.28377 NA 0.483605 0.261008 NA 0.42 NA 2.515495 1401 10 112764594 112764594 T C intronic SHOC2 NA NA NA intronic ENSG00000108061 NA NA NA NA NA 10q25.2 NA NA NA NA rs1980869 0.83 0.83 0.815 0.843251 0.832 0.8442 0.9193 0.8336 0.8129 0.83 0.84 0.89 0.79 0.8348 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474511 NA NA 0.81905 0.829385 NA 0.761 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000034336.2;CLNDSDB=.;CLNDSDBID=. 2.51415 1401 21 38462614 38462614 A G intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs3787780 0.41 0.41 0.43 0.395767 0.5139 0.3611 0.3804 0.3472 0.3865 0.52 0.33 0.4 0.35 0.4537 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.764262 NA NA 0.518372 0.364896 NA 0.319 NA 2.514028 1401 3 8932189 8932189 C T intronic RAD18 NA NA NA intronic ENSG00000070950 NA NA NA NA NA 3p25.3 NA NA NA NA rs607531 0.52 0.52 0.5 0.522564 0.7584 0.3591 0.6729 0.2141 0.7587 0.76 0.4 0.64 0.22 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233142 1.233142 NA 0.727673 0.302023 NA 0.572 NA 2.513927 1401 1 25889672 25889672 G A intronic LDLRAP1 NA NA NA intronic ENSG00000157978 NA NA NA NA NA 1p36.11 NA NA NA NA rs6688931 0.45 0.45 0.415 0.416534 0.494 0.4415 0.4928 0.2844 0.4356 0.49 0.51 0.46 0.3 0.4817 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766593 NA NA 0.51152 0.320245 NA 0.232 NA 2.51278 1401 18 43703223 43703223 C G intronic HAUS1 NA NA NA intronic ENSG00000152240 NA NA NA NA NA 18q21.1 NA NA NA NA rs12954742 0.48 0.48 0.482 0.459665 0.4881 0.4554 0.451 0.4395 0.4683 0.48 0.5 0.47 0.45 0.4918 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098927 NA NA 0.507558 0.468679 ID=COSN165653;OCCURENCE=1(breast) 0.594 NA 2.512542 1401 2 1488668 1488668 T C intronic TPO NA NA NA intronic ENSG00000115705 NA NA NA NA NA 2p25.3 NA NA NA NA rs6715129 0.56 0.56 0.57 0.597045 0.492 0.4901 0.5216 0.7474 0.6656 0.48 0.53 0.52 0.75 0.5173 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.670116 NA NA 0.478921 0.69075 NA 0.609 NA 2.511779 1401 10 118355695 118355695 A T intronic PNLIPRP1 NA NA NA intronic ENSG00000187021 NA NA NA NA NA 10q25.3 NA NA NA NA rs2915765 0.36 0.36 0.332 0.352636 0.507 0.1776 0.549 0.1815 0.4663 0.5 0.18 0.54 0.22 0.4699 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720331 NA NA 0.511628 0.234453 NA 0.37 NA 2.511472 1401 19 6744762 6744762 A C intronic TRIP10 NA NA NA intronic ENSG00000125733 NA NA NA NA NA 19p13.3 NA NA Name=33 NA rs339405 0.81 0.81 0.812 0.779353 0.8419 0.7421 0.8256 0.8457 0.6309 0.82 0.77 0.81 0.84 0.808 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502373 NA NA 0.83907 0.835225 NA 0.826 NA 2.51103 1401 22 27021425 27021425 A G intronic CRYBA4 NA NA NA intronic ENSG00000196431 NA NA NA NA NA 22q12.1 NA NA NA NA rs4276 0.58 0.58 0.62 0.588259 0.495 0.6359 0.3991 0.7988 0.4847 0.49 0.65 0.41 0.78 0.5149 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.173894 NA NA 0.479651 0.750113 NA 0.558 NA 2.510449 1401 6 17834328 17834328 G A intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs4716192 0.43 0.43 0.379 0.435703 0.496 0.4038 0.513 0.2943 0.5429 0.49 0.4 0.48 0.31 0.5095 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.991591 1.991591 NA 0.48444 0.329221 NA 0.514 NA 2.51006 1401 14 92336775 92336775 T C intronic FBLN5 NA NA NA intronic ENSG00000140092 NA NA NA NA NA 14q32.12 NA NA NA NA rs929608 0.48 0.48 0.44 0.458267 0.5099 0.6548 0.4597 0.2035 0.546 0.5 0.65 0.51 0.22 0.4909 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03686 NA NA 0.489186 0.258057 NA 0.384 NA 2.510014 1401 3 96387023 96387023 C T intergenic LOC100287639,EPHA6 dist=984986;dist=146402 NA NA intergenic ENSG00000212031,ENSG00000241018 dist=1900;dist=85006 NA NA NA NA 3q11.2 NA NA NA NA rs3966829 0.84 0.84 0.815 0.84405 0.8241 0.9702 0.8746 0.6936 0.9162 0.81 0.96 0.87 0.7 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290774 NA NA NA NA NA 0.703 NA 2.5092334 1401 3 96387449 96387449 T C intergenic LOC100287639,EPHA6 dist=985412;dist=145976 NA NA intergenic ENSG00000212031,ENSG00000241018 dist=2326;dist=84580 NA NA NA NA 3q11.2 NA NA NA NA rs3884655 0.84 0.84 0.824 0.844249 0.8241 0.9702 0.8746 0.6936 0.9172 0.81 0.96 0.87 0.7 NA 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871362 NA NA NA NA NA 0.732 NA 2.5092334 1401 3 182913092 182913092 T G intronic MCF2L2 NA NA NA intronic ENSG00000053524 NA NA NA NA NA 3q27.1 NA NA NA NA rs577136 0.45 0.45 0.442 0.450879 0.4851 0.4107 0.4366 0.4123 0.5194 0.49 0.46 0.45 0.4 0.4828 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091816 NA NA 0.522923 0.446161 ID=COSN167098;OCCURENCE=1(large_intestine) 0.399 NA 2.509177 1401 5 169697707 169697707 G A intronic LCP2 NA NA NA intronic ENSG00000043462 NA NA NA NA NA 5q35.1 NA NA NA NA rs315745 0.57 0.57 0.569 0.582668 0.4583 0.8552 0.572 0.4924 0.5593 0.47 0.85 0.53 0.44 0.5523 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.989785 NA NA 0.480765 0.47894 NA 0.594 NA 2.508635 1401 6 51944847 51944847 T C intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.2 NA NA NA NA rs1892274 0.43 0.43 0.376 0.380591 0.507 0.4008 0.6081 0.202 0.3098 0.52 0.41 0.6 0.21 0.4742 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141649 NA NA 0.510465 0.239673 NA 0.529 NA 2.508335 1401 11 34680053 34680053 G A intronic EHF NA NA NA intronic ENSG00000135373 NA NA NA NA NA 11p13 NA NA NA NA rs3818514 0.33 0.33 0.347 0.297923 0.5328 0.129 0.3184 0.1815 0.3732 0.55 0.15 0.34 0.21 0.4311 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803918 NA NA 0.528269 0.245686 NA 0.29 NA 2.507831 1401 18 50917982 50917982 C T intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs12604262 0.34 0.34 0.331 0.302915 0.5268 0.2212 0.2925 0.1725 0.3405 0.52 0.22 0.35 0.18 0.4439 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814285 NA NA 0.522274 0.230804 NA 0.362 NA 2.507026 1401 6 90371986 90371986 C T intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs3818132 0.66 0.66 0.64 0.607428 0.4742 0.9087 0.7032 0.5938 0.3845 0.49 0.92 0.67 0.61 0.5391 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073646 NA NA 0.479767 0.595778 NA 0.507 NA 2.506933 1401 3 157146307 157146307 A T intronic VEPH1 NA NA NA intronic ENSG00000197415 NA NA NA NA NA 3q25.32 NA NA NA NA rs1456099 0.45 0.45 0.393 0.418131 0.508 0.4752 0.6239 0.2352 0.3681 0.5 0.48 0.59 0.22 0.477 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.462884 NA NA 0.508488 0.285974 NA 0.399 NA 2.506512 1401 8 17928920 17928920 T C intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs12547845 0.43 0.43 0.382 0.420327 0.4761 0.373 0.5735 0.2496 0.5337 0.47 0.36 0.6 0.3 0.5244 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551035 NA NA 0.493022 0.288697 NA 0.355 NA 2.506478 1401 19 21045824 21045824 C T intergenic ZNF626,ZNF85 dist=201422;dist=60235 NA NA intergenic ENSG00000269373,ENSG00000105750 dist=15601;dist=60204 NA NA NA NA 19p12 NA NA NA NA rs2545229 0.76 0.76 0.741 0.74361 0.827 0.7004 0.6945 0.6793 0.8241 0.86 0.73 0.71 0.68 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565072 NA NA NA NA NA 0.79 NA 2.5063334 1401 15 45424286 45424286 C G intronic DUOX1 NA NA NA intronic ENSG00000137857 NA NA NA NA NA 15q21.1 NA NA NA NA rs1706810 0.53 0.53 0.468 0.491813 0.7406 0.6002 0.6628 0.1233 0.501 0.75 0.53 0.62 0.13 NA 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152079 NA NA 0.753619 0.226346 NA 0.522 NA 2.505781 1402 12 75687185 75687185 G A intronic CAPS2 NA NA NA ncRNA_intronic ENSG00000254451 NA NA NA NA NA 12q21.1 NA NA NA NA rs7967562 0.62 0.62 0.606 0.625799 0.5954 0.7073 0.6383 0.4781 0.7638 0.6 0.73 0.64 0.5 0.6262 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000029 NA NA 0.607351 0.493191 NA 0.449 NA 2.5043823 1402 8 49176272 49176272 A G intergenic UBE2V2,EFCAB1 dist=201818;dist=451202 NA NA intergenic ENSG00000253843,ENSG00000253654 dist=69085;dist=30314 NA NA NA NA 8q11.21 NA NA NA NA rs7841194 0.74 0.74 0.712 0.705272 0.829 0.7589 0.8746 0.5189 0.6544 0.82 0.8 0.84 0.5 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049093 NA NA NA NA NA 0.768 NA 2.5043334 1402 12 347068 347068 T A intronic SLC6A13 NA NA NA intronic ENSG00000010379 NA NA NA NA NA 12p13.33 NA NA NA NA rs2289957 0.3 0.3 0.292 0.252995 0.5467 0.1012 0.2824 0.0719 0.3313 0.57 0.12 0.33 0.08 0.4151 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13613 NA NA 0.533953 0.14571 NA 0.384 NA 2.504247 1402 2 61021349 61021349 A G intronic PAPOLG NA NA NA intronic ENSG00000115421 NA NA NA NA NA 2p16.1 NA NA NA NA rs11125855 0.44 0.44 0.439 0.403554 0.5408 0.1468 0.4078 0.5514 0.3241 0.53 0.16 0.49 0.58 0.4622 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570199 NA NA 0.493488 0.555429 NA 0.522 NA 2.503512 1402 7 51517349 51517349 C T intergenic COBL,POM121L12 dist=132834;dist=1586000 NA NA intergenic ENSG00000227080,ENSG00000229478 dist=60538;dist=150633 NA NA NA NA 7p12.1 NA NA NA NA rs9649790 0.71 0.71 0.691 0.708067 0.83 0.6042 0.768 0.5477 0.864 0.83 0.62 0.8 0.59 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442662 NA NA NA NA NA 0.645 NA 2.5033334 1402 10 102016268 102016268 G A intronic CWF19L1 NA NA NA intronic ENSG00000095485 NA NA NA NA NA 10q24.31 NA NA NA NA rs2270961 0.56 0.56 0.597 0.538738 0.5179 0.5109 0.4222 0.7738 0.3538 0.52 0.5 0.48 0.74 0.4779 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.812982 2.812982 NA 0.501163 0.716977 ID=COSN163743;OCCURENCE=1(breast) 0.536 NA 2.503037 1402 6 17834316 17834316 T C intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs4716191 0.42 0.42 0.379 0.435104 0.496 0.4018 0.513 0.2935 0.5429 0.49 0.4 0.48 0.3 0.5185 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.752904 1.752904 NA 0.483337 0.330588 NA 0.514 NA 2.502163 1402 19 3645947 3645947 G A intronic PIP5K1C NA NA NA intronic ENSG00000186111 NA NA NA NA NA 19p13.3 NA NA NA NA rs12460780 0.47 0.47 0.458 0.461661 0.506 0.3631 0.585 0.4909 0.3906 0.5 0.36 0.56 0.51 0.4935 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452234 NA NA 0.498372 0.498184 ID=COSN165686;OCCURENCE=1(breast) 0.594 NA 2.502128 1402 6 33659557 33659557 C T intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296741 0.53 0.53 0.464 0.550319 0.4831 0.8978 0.5951 0.1195 0.8119 0.49 0.88 0.59 0.13 0.5566 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644348 NA NA 0.458488 0.199274 NA 0.5 NA 2.501812 1402 7 101713590 101713590 T C intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA Name=CTCF NA NA rs377612 0.87 0.87 0.868 0.879393 0.8241 0.9911 0.8559 0.8411 0.8896 0.82 0.99 0.83 0.82 0.8528 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.850271 2.850271 NA 0.821628 0.838175 NA 0.913 NA 2.501472 1402 1 23236826 23236826 C T intronic EPHB2 NA NA NA intronic ENSG00000133216 NA NA NA NA NA 1p36.12 NA NA NA NA rs309497 0.5 0.5 0.494 0.512979 0.503 0.2659 0.5346 0.7905 0.3875 0.48 0.26 0.57 0.76 0.4955 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.880093 2.880093 NA 0.500233 0.742624 NA 0.616 NA 2.501267 1402 20 56138040 56138040 G C intronic PCK1 NA NA NA intronic ENSG00000124253 NA NA NA NA NA 20q13.31 NA NA NA NA rs2070755 0.44 0.44 0.41 0.418331 0.5278 0.3115 0.5303 0.379 0.3896 0.53 0.32 0.54 0.37 0.4649 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.100294 NA NA 0.506047 0.389192 NA 0.464 NA 2.501253 1402 5 147475488 147475488 A G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs11958432 0.45 0.45 0.408 0.452077 0.4831 0.4802 0.6282 0.2746 0.5061 0.46 0.46 0.6 0.3 0.5097 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452839 NA NA 0.506236 0.319579 NA 0.377 NA 2.500964 1402 21 32499473 32499473 A G intronic TIAM1 NA NA NA intronic ENSG00000156299 NA NA NA NA NA 21q22.11 NA NA NA NA rs2070410 0.61 0.61 0.603 0.599042 0.4801 0.6081 0.6354 0.7806 0.4407 0.48 0.6 0.64 0.78 0.5407 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729582 NA NA 0.478256 0.711076 NA 0.594 NA 2.500944 1402 1 161565324 161565324 C T intronic FCGR2C NA NA NA intronic ENSG00000072694,ENSG00000203747,ENSG00000244682 NA NA NA NA NA 1q23.3 NA NA NA NA rs61801822 NA NA 0.527 0.699081 0.7584 0.7272 0.7983 0.5325 0.7638 NA NA NA NA 0.7411 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148269 NA NA NA NA NA 0.601 NA 2.5005 1402 3 136739406 136739406 C G intergenic IL20RB,SOX14 dist=9480;dist=743728 NA NA intergenic ENSG00000174564,ENSG00000201325 dist=9479;dist=497570 NA NA NA NA 3q22.3 NA NA Name=12 NA rs1385306 0.7 0.7 0.682 0.674121 0.6183 0.9058 0.7219 0.5734 0.5951 0.63 0.88 0.69 0.59 0.6259 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.534592 NA NA 0.588649 0.573059 NA 0.536 NA 2.5004844 1402 10 105658588 105658588 G C intronic OBFC1 NA NA NA intronic ENSG00000107960 NA NA NA NA NA 10q24.33 NA NA NA NA rs2902639 0.42 0.42 0.415 0.398762 0.5378 0.3413 0.4769 0.2897 0.407 0.54 0.33 0.44 0.32 0.4614 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236113 NA NA 0.501047 0.329551 NA 0.297 NA 2.499753 1402 4 9982191 9982191 C T intronic SLC2A9 NA NA NA intronic ENSG00000109667 NA NA NA NA NA 4p16.1 NA NA NA NA rs13115193 0.41 0.41 0.393 0.386182 0.505 0.4177 0.3329 0.1876 0.5378 0.52 0.43 0.38 0.22 0.4742 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070833 NA NA 0.522209 0.230368 NA 0.399 NA 2.498591 1402 5 147479991 147479991 C T intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2303061 0.43 0.43 0.391 0.432907 0.4851 0.4861 0.6167 0.1989 0.5102 0.46 0.46 0.59 0.23 0.5039 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347697 NA NA 0.512805 0.250403 NA 0.362 NA 2.498195 1402 20 33057954 33057954 G C intronic ITCH NA NA NA intronic ENSG00000078747 NA NA NA NA NA 20q11.22 NA NA NA NA rs6059856 0.46 0.46 0.476 0.440895 0.5099 0.4058 0.3199 0.4902 0.4254 0.53 0.42 0.38 0.47 0.4828 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.985796 NA NA 0.509186 0.496369 NA 0.493 NA 2.498114 1402 2 241830944 241830944 G T intronic C2orf54 NA NA NA intronic ENSG00000172478 NA NA NA NA NA 2q37.3 NA NA NA NA rs10171053 0.51 0.51 0.539 0.523962 0.5179 0.4405 0.3473 0.7685 0.411 0.52 0.38 0.38 0.77 0.4851 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429595 NA NA 0.499029 0.73428 NA 0.681 NA 2.497971 1402 15 23000272 23000272 A G intronic CYFIP1 NA NA NA UTR3 ENSG00000068793 ENST00000561263:c.*17A>G NA NA NA NA 15q11.2 NA NA NA NA rs999842 0.54 0.54 0.521 0.528754 0.5586 0.6329 0.5058 0.3782 0.6104 0.57 0.64 0.52 0.38 0.5549 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.971297 NA NA 0.55686 0.391058 NA 0.348 NA 2.4963067 1402 5 147480007 147480007 A G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2303062 0.43 0.43 0.377 0.432907 0.4861 0.4851 0.6167 0.1989 0.5102 0.46 0.46 0.59 0.23 0.5057 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.510627 NA 0.11 0.511919 0.251743 NA 0.362 NA 2.496281 1402 9 136509312 136509312 C T intronic DBH NA NA NA intronic ENSG00000123454 NA NA NA NA NA 9q34.2 NA NA NA NA rs1611125 0.43 0.43 0.453 0.402556 0.5298 0.1399 0.389 0.6074 0.2751 0.53 0.16 0.43 0.6 0.4474 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926428 NA NA 0.526977 0.587608 NA 0.543 NA 2.495823 1402 12 53432088 53432088 T C intronic EIF4B NA NA NA ncRNA_intronic ENSG00000257337 NA NA NA NA NA 12q13.13 NA NA NA NA rs7968918 0.8 0.8 0.765 0.758786 0.9095 0.7946 0.9135 0.472 0.8446 0.9 0.82 0.91 0.53 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141269 NA NA 0.928252 0.541135 NA 0.783 NA 2.4955813 1402 7 1131356 1131356 T C UTR5 GPER NM_001505:c.-9T>C,NM_001039966:c.-9T>C,NM_001098201:c.-9T>C NA NA UTR5 ENSG00000164850 ENST00000401670:c.-9T>C,ENST00000397092:c.-9T>C,ENST00000413368:c.-9T>C,ENST00000297469:c.-9T>C,ENST00000397088:c.-9T>C NA NA NA NA 7p22.3 NA NA NA NA rs3802141 0.63 0.63 0.638 0.627796 0.5954 0.4375 0.6484 0.8154 0.589 0.6 0.51 0.62 0.82 0.6261 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776878 NA NA 0.616395 0.785974 NA 0.674 NA 2.4954384 1402 1 75214390 75214390 G C intronic TYW3 NA NA NA intronic ENSG00000162623 NA NA NA NA NA 1p31.1 NA NA NA NA rs749690 0.28 0.28 0.253 0.226837 0.5437 0.0079 0.4222 0.0756 0.1922 0.52 0.01 0.46 0.12 0.4107 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071127 NA NA 0.550233 0.171811 NA 0.261 NA 2.495367 1403 6 89913209 89913209 C T splicing GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs4590242 0.73 0.73 0.722 0.742013 0.6531 0.9286 0.7896 0.674 0.6994 0.64 0.92 0.75 0.65 0.6974 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06808 NA NA 0.654535 0.685429 NA 0.732 NA 2.494965 1403 5 147481018 147481018 G A intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2303068 0.43 0.43 0.39 0.433107 0.4861 0.4851 0.6167 0.1997 0.5102 0.46 0.46 0.59 0.23 0.5067 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915753 NA NA 0.512521 0.252901 NA 0.362 NA 2.494679 1403 5 176334195 176334195 C T intronic UIMC1 NA NA NA intronic ENSG00000087206 NA NA NA NA NA 5q35.2 NA NA NA NA rs2292255 0.57 0.57 0.597 0.590455 0.4901 0.4931 0.438 0.8896 0.498 0.49 0.48 0.41 0.89 0.5247 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.091238 NA NA 0.491161 0.81094 NA 0.58 NA 2.494039 1403 5 43292908 43292908 C A intronic HMGCS1 NA NA NA intronic ENSG00000112972 NA NA NA NA NA 5p12 NA NA NA NA rs55794239 0.37 0.37 0.337 0.360024 0.5308 0.125 0.4611 0.3336 0.3906 0.51 0.16 0.49 0.34 0.4553 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007354 NA NA 0.520009 0.358311 NA 0.42 NA 2.493891 1403 9 35060746 35060746 A G intronic VCP NA NA NA intronic ENSG00000165280 NA NA NA NA NA 9p13.3 NA NA NA NA rs562381 0.69 0.69 0.674 0.691893 0.7515 0.4563 0.8242 0.7292 0.729 0.75 0.5 0.81 0.74 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.462915 NA NA 0.754646 0.716324 ID=COSN168533;OCCURENCE=1(large_intestine) 0.797 NA 2.493854 1403 15 45433646 45433646 T G intronic DUOX1 NA NA NA intronic ENSG00000137857 NA NA NA NA NA 15q21.1 NA NA NA NA rs1648283 0.31 0.31 0.259 0.282149 0.5249 0.2222 0.4063 0.0477 0.3231 0.55 0.15 0.41 0.05 0.4421 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649229 NA NA 0.540368 0.14172 NA 0.333 NA 2.492632 1403 4 108999366 108999366 G A intronic LEF1 NA NA NA intronic ENSG00000138795 NA NA NA NA NA 4q25 NA NA Name=14 NA rs4956157 0.77 0.77 0.733 0.751198 0.8419 0.9683 0.8919 0.3359 0.8957 0.85 0.95 0.9 0.33 0.827 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949085 NA NA 0.838953 0.40059 NA 0.732 NA 2.492147 1403 16 56686852 56686852 A G intronic MT1B NA NA NA intronic ENSG00000169688 NA NA NA NA NA 16q12.2 NA NA NA NA rs8047981 0.38 0.38 0.372 0.395168 0.503 0.3185 0.402 0.2859 0.5061 0.51 0.3 0.43 0.26 0.4817 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699383 NA NA 0.523256 0.354186 NA 0.406 NA 2.492044 1403 3 183907032 183907032 G C intronic ABCF3 NA NA NA intronic ENSG00000145191,ENSG00000161204 NA NA NA NA NA 3q27.1 NA NA NA NA rs843344 0.53 0.53 0.523 0.554912 0.4811 0.6022 0.4597 0.6029 0.5849 0.46 0.62 0.46 0.6 0.5241 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443643 NA NA 0.502791 0.575352 NA 0.464 NA 2.492009 1403 3 183906515 183906515 T C intronic ABCF3 NA NA NA intronic ENSG00000145191,ENSG00000161204 NA NA NA NA NA 3q27.1 NA NA NA NA rs843345 0.53 0.53 0.495 0.555112 0.4811 0.6022 0.4597 0.6036 0.5849 0.46 0.62 0.46 0.6 0.5253 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.86109 NA NA 0.501628 0.574898 NA 0.464 NA 2.491972 1403 15 83523368 83523368 C G intronic HOMER2 NA NA NA intronic ENSG00000103942 NA NA NA NA NA 15q25.2 NA NA NA NA rs1256426 0.51 0.51 0.51 0.483227 0.505 0.7361 0.4251 0.2753 0.5225 0.51 0.74 0.46 0.29 0.5148 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.063323 NA NA 0.488419 0.307309 NA 0.406 NA 2.491781 1403 8 63976754 63976754 A G intronic TTPA NA NA NA intronic ENSG00000137561 NA NA NA NA NA 8q12.3 NA NA NA NA rs4501570 0.65 0.65 0.661 0.677316 0.4592 0.7619 0.6282 0.8623 0.5992 0.45 0.77 0.61 0.86 0.5937 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463739 NA NA 0.455581 0.802906 NA 0.623 NA 2.491519 1403 19 35556281 35556281 G A ncRNA_intronic HPN-AS1 NA NA NA ncRNA_intronic ENSG00000227392 NA NA NA NA NA 19q13.12 NA NA NA NA rs2305745 0.63 0.63 0.62 0.574681 0.7485 0.6528 0.7954 0.3071 0.5204 0.76 0.67 0.75 0.31 0.6873 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001673 NA NA 0.740349 0.386972 NA 0.551 NA 2.4905176 1403 19 3207338 3207338 T C intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs312068 0.65 0.65 0.617 0.675519 0.493 0.9435 0.5605 0.6203 0.7434 0.49 0.96 0.55 0.61 0.5593 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244435 NA NA 0.457442 0.616886 NA 0.616 NA 2.490258 1403 16 16184232 16184232 C G intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA Name=Pol2 NA NA rs2074087 0.82 0.82 0.817 0.792532 0.8429 0.8373 0.7795 0.8177 0.6697 0.84 0.8 0.77 0.84 0.8232 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228917 NA NA 0.844044 0.828571 NA 0.862 NA 2.489856 1403 17 79914661 79914661 T C intronic NOTUM NA NA NA intronic ENSG00000185269 NA NA NA NA NA 17q25.3 NA NA NA NA rs35872546 0.38 0.38 0.369 0.374002 0.5169 0.2093 0.4035 0.3533 0.4039 0.52 0.22 0.43 0.34 0.4681 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.698624 NA NA 0.525175 0.371357 NA 0.522 NA 2.489825 1403 9 37737283 37737283 A G intronic FRMPD1 NA NA NA intronic ENSG00000070601,ENSG00000255872 NA NA NA NA NA 9p13.2 NA NA NA NA rs2296552 0.52 0.52 0.514 0.533946 0.4801 0.5427 0.585 0.5053 0.5828 0.49 0.54 0.56 0.52 0.5278 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.579538 1.579538 NA 0.502442 0.499319 NA 0.42 NA 2.489658 1403 1 6636461 6636461 C T intronic TAS1R1 NA NA NA intronic ENSG00000173662 NA NA NA NA NA 1p36.31 NA NA NA NA rs17492553 0.42 0.42 0.404 0.369808 0.5219 0.3472 0.4625 0.2322 0.3569 0.54 0.36 0.47 0.25 0.4731 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963368 NA NA 0.516163 0.291875 NA 0.442 NA 2.488837 1403 20 23805832 23805832 G A intronic CST2 NA NA NA intronic ENSG00000170369 NA NA NA NA NA 20p11.21 NA NA NA NA rs6036548 0.82 0.82 0.825 0.830072 0.7485 0.9375 0.7262 0.9002 0.7822 0.74 0.93 0.74 0.88 0.7639 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.369578 NA NA NA NA NA 0.899 NA 2.4876 1403 8 15606182 15606182 G A intronic TUSC3 NA NA NA intronic ENSG00000104723 NA NA NA NA NA 8p22 NA NA NA NA rs7820648 0.58 0.58 0.568 0.553914 0.4851 0.621 0.6354 0.5983 0.4376 0.51 0.65 0.62 0.58 0.5292 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629322 NA NA 0.498744 0.5879 NA 0.406 NA 2.486956 1403 17 49567749 49567749 T C intergenic UTP18,CA10 dist=192457;dist=139925 NA NA intergenic ENSG00000267452,ENSG00000187504 dist=44586;dist=12100 NA NA NA NA 17q21.33 NA NA NA NA rs12603818 0.37 0.37 0.393 0.456669 0.2704 0.2857 0.3804 0.7315 0.5072 0.26 0.29 0.34 0.67 0.3269 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133986 NA NA 0.249372 0.627283 NA 0.384 NA 2.4866614 1403 16 90108832 90108832 C T ncRNA_intronic LOC100130015 NA NA NA intronic ENSG00000141013 NA NA NA NA NA 16q24.3 NA NA NA NA rs2241035 0.44 0.44 0.432 0.411941 0.6561 0.3442 0.4539 0.264 0.4008 0.63 0.3 0.51 0.27 0.5318 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15411 NA NA 0.659419 0.30141 NA 0.319 NA 2.4860143 1403 3 179472674 179472674 C T intronic USP13 NA NA NA intronic ENSG00000058056 NA NA NA NA NA 3q26.33 NA NA NA NA rs2287240 0.47 0.47 0.441 0.446086 0.496 0.6399 0.4568 0.1846 0.5409 0.5 0.65 0.49 0.18 0.5002 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453107 NA NA 0.518023 0.243532 NA 0.42 NA 2.485777 1403 11 74408384 74408384 C T intronic CHRDL2 NA NA NA intronic ENSG00000054938 NA NA NA NA NA 11q13.4 NA Name=ELK4,STAT3,USF2,Pol2,BAF170 NA NA rs10751240 0.81 0.81 0.807 0.802117 0.8241 0.7798 0.7291 0.8654 0.7689 0.82 0.8 0.75 0.85 0.8287 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590557 NA NA 0.861752 0.842955 NA 0.688 NA 2.485448 1403 9 86256431 86256431 T A intronic IDNK NA NA NA intronic ENSG00000148057 NA NA NA NA NA 9q21.32 NA NA NA NA rs2811917 0.42 0.42 0.435 0.463858 0.5288 0.0466 0.3948 0.7368 0.5072 0.51 0.03 0.44 0.74 0.4656 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316899 1.316899 NA 0.520233 0.705175 NA 0.638 NA 2.485367 1403 16 88688832 88688832 A G intronic ZC3H18 NA NA NA intronic ENSG00000158545 NA NA NA NA NA 16q24.2 NA NA NA NA rs3751675 0.48 0.48 0.464 0.487021 0.5089 0.5456 0.3919 0.3517 0.6544 0.51 0.56 0.45 0.39 0.5283 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536862 NA NA 0.477765 0.353825 NA 0.551 NA 2.485035 1404 8 68965521 68965521 C T intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA rs10504417 0.52 0.52 0.522 0.544728 0.5239 0.2688 0.4683 0.826 0.5245 0.53 0.28 0.48 0.81 0.5018 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27457 NA NA 0.489651 0.770313 NA 0.623 NA 2.484649 1404 11 117299015 117299015 T C UTR3 DSCAML1 NM_020693:c.*29A>G NA NA UTR3 ENSG00000177103 ENST00000321322:c.*29A>G,ENST00000527706:c.*29A>G NA NA NA NA 11q23.3 NA NA NA NA rs2925768 0.44 0.44 0.439 0.444688 0.6292 0.252 0.4769 0.4304 0.4499 0.61 0.23 0.5 0.39 0.5529 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.902161 NA NA 0.667105 0.490256 NA 0.152 NA 2.4841284 1404 14 90735707 90735707 A G intronic PSMC1 NA NA NA intronic ENSG00000100764 NA NA NA NA NA 14q32.11 NA NA NA NA rs3742673 0.57 0.57 0.569 0.564696 0.504 0.7232 0.4539 0.5658 0.5409 0.51 0.72 0.47 0.57 0.5119 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.700145 NA NA 0.500349 0.546284 NA 0.58 NA 2.483751 1404 4 183674577 183674577 G C intronic TENM3 NA NA NA intronic ENSG00000218336 NA NA NA NA NA 4q35.1 NA NA NA NA rs13130747 0.58 0.58 0.584 0.586861 0.4801 0.7153 0.4741 0.6846 0.5123 0.49 0.69 0.5 0.65 0.5392 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.143766 NA NA 0.497058 0.657104 NA 0.681 NA 2.483642 1404 15 25321029 25321029 C T upstream SNORD116-11 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs4906699 0.56 0.56 0.55 0.530751 0.5557 0.5427 0.5908 0.5855 0.3763 0.56 0.53 0.63 0.56 0.5552 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991938 NA NA 0.572325 0.590753 NA 0.601 NA 2.4834416 1404 21 43531848 43531848 C T intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs220131 0.44 0.44 0.409 0.387181 0.5249 0.505 0.4683 0.1679 0.363 0.56 0.47 0.47 0.2 0.4907 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201578 NA NA 0.50167 0.238412 NA 0.435 NA 2.48273 1404 13 75814504 75814504 A G ncRNA_exonic CTAGE11P NA NA NA upstream ENSG00000214249 NA NA NA NA NA 13q22.2 NA NA NA NA rs1888258 0.79 0.79 0.701 0.798123 0.8459 0.874 0.8401 0.5976 0.9121 0.85 0.85 0.81 0.63 0.8384 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562555 NA NA NA NA NA 0.804 NA 2.4823666 1404 11 125514573 125514573 G A intronic CHEK1 NA NA NA intronic ENSG00000149554 NA NA NA NA NA 11q24.2 NA NA NA NA rs521102 0.43 0.43 0.401 0.436102 0.5 0.4058 0.6023 0.2451 0.5419 0.51 0.43 0.56 0.22 0.5059 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098466 NA NA 0.512096 0.288732 NA 0.435 NA 2.482004 1404 9 86243933 86243933 G T intronic IDNK NA NA NA intronic ENSG00000148057 NA NA NA NA NA 9q21.32 NA NA NA NA rs2811905 0.84 0.84 0.859 0.857428 0.7624 0.8879 0.8112 0.9221 0.8691 0.76 0.87 0.83 0.93 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153997 NA NA 0.756128 0.898121 NA 0.877 NA 2.481472 1404 3 10280753 10280753 G A intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs11465932 0.39 0.39 0.361 0.383986 0.5388 0.2827 0.5432 0.2284 0.4264 0.53 0.28 0.52 0.21 0.4614 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389787 NA NA 0.519419 0.265774 NA 0.536 NA 2.480381 1404 8 19277817 19277817 G A intronic CSGALNACT1 NA NA NA intronic ENSG00000147408 NA NA NA NA NA 8p21.3 NA NA NA NA rs6999786 0.54 0.54 0.494 0.521166 0.492 0.8214 0.6571 0.2458 0.5174 0.49 0.82 0.63 0.25 0.5313 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881733 NA NA 0.49686 0.281434 NA 0.42 NA 2.47984 1404 19 45571781 45571781 T C intronic CLASRP NA NA NA intronic ENSG00000104859 NA NA NA NA NA 19q13.32 NA NA NA NA rs10445571 0.49 0.49 0.482 0.466853 0.508 0.4157 0.438 0.5688 0.3599 0.5 0.41 0.46 0.61 0.4892 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033255 NA NA 0.523837 0.529278 NA 0.572 NA 2.478963 1404 14 77932017 77932017 A C intronic AHSA1 NA NA NA intronic ENSG00000100591 NA NA NA NA NA 14q24.3 NA NA NA NA rs7146595 0.51 0.51 0.49 0.479433 0.4871 0.9187 0.513 0.0946 0.5153 0.49 0.92 0.45 0.11 0.5117 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553874 NA NA 0.522326 0.165002 NA 0.384 NA 2.478874 1404 14 77934758 77934758 A G intronic AHSA1 NA NA NA intronic ENSG00000100591 NA NA NA NA NA 14q24.3 NA NA NA NA rs4903584 0.51 0.51 0.499 0.479433 0.4871 0.9187 0.513 0.0946 0.5153 0.49 0.92 0.45 0.11 0.5119 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739898 NA NA 0.522209 0.164775 NA 0.384 NA 2.478791 1404 2 160114437 160114437 G A intronic WDSUB1 NA NA NA intronic ENSG00000196151 NA NA NA NA NA 2q24.2 NA NA NA NA rs3213715 0.44 0.44 0.451 0.40016 0.5179 0.2738 0.3372 0.5424 0.2618 0.51 0.29 0.37 0.53 0.4599 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.384823 1.384823 NA 0.543837 0.548138 NA 0.514 NA 2.478363 1404 15 101566118 101566118 C T intronic LRRK1 NA NA NA intronic ENSG00000154237 NA NA NA NA NA 15q26.3 NA NA NA NA rs4427776 0.61 0.61 0.598 0.598043 0.7634 0.5188 0.6527 0.3699 0.7791 0.76 0.55 0.66 0.42 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073138 NA NA 0.758413 0.425228 NA 0.594 NA 2.478187 1404 4 6578487 6578487 A G intronic MAN2B2 NA NA NA intronic ENSG00000013288 NA NA NA NA NA 4p16.1 NA NA Name=16 NA rs4689485 0.84 0.84 0.821 0.821086 0.8529 0.8661 0.8545 0.7322 0.8384 0.86 0.85 0.85 0.77 0.8351 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141985 NA NA 0.833837 0.743532 NA 0.717 NA 2.478163 1404 21 38468958 38468958 A G intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835600 0.42 0.42 0.419 0.40615 0.5258 0.379 0.3818 0.3608 0.3896 0.53 0.36 0.4 0.36 0.467 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741973 NA NA 0.529774 0.373921 NA 0.333 NA 2.477426 1404 7 142499762 142499762 A G intergenic PRSS3P2,EPHB6 dist=17363;dist=53030 NA NA intronic ENSG00000211772 NA NA NA NA NA 7q34 NA NA NA NA rs706 0.33 0.33 0.316 0.284345 0.4414 0.1885 0.3084 0.3147 0.1636 0.45 0.17 0.32 0.34 0.347 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652788 NA NA 0.401188 0.295694 NA 0.384 NA 2.4770787 1404 1 7796641 7796641 A G intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs2071985 0.54 0.54 0.483 0.526757 0.4821 0.5407 0.6715 0.4743 0.5266 0.48 0.55 0.63 0.52 0.5321 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744603 NA NA 0.509302 0.496142 NA 0.457 NA 2.476498 1404 4 7728472 7728472 C T intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs2301746 0.52 0.52 0.493 0.520966 0.5388 0.5893 0.3934 0.497 0.5552 0.52 0.59 0.45 0.49 0.493 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196592 NA NA 0.491821 0.477534 NA 0.384 NA 2.476379 1404 14 77880493 77880493 C T intronic NOXRED1 NA NA NA intronic ENSG00000165555 NA NA NA NA NA 14q24.3 NA NA NA NA rs8005759 0.51 0.51 0.478 0.47524 0.4901 0.9206 0.5144 0.0734 0.5164 0.49 0.93 0.46 0.08 0.5114 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22955 NA NA 0.522326 0.149342 NA 0.377 NA 2.476174 1404 5 182077 182077 T A intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA NA NA NA rs4956924 0.34 0.34 0.333 0.353634 0.503 0.2698 0.379 0.1543 0.5378 0.5 0.27 0.39 0.15 0.4742 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543528 NA NA 0.54686 0.222197 NA 0.406 NA 2.47594 1404 17 8224133 8224133 T C intronic ARHGEF15 NA NA NA intronic ENSG00000198844 NA NA NA NA NA 17p13.1 NA NA NA NA rs3744646 0.47 0.47 0.483 0.453275 0.5169 0.3254 0.5504 0.4887 0.4029 0.51 0.34 0.54 0.49 0.4974 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.771857 NA NA 0.509884 0.51271 NA 0.457 NA 2.475816 1405 17 42085972 42085972 C T UTR3 NAGS NM_153006:c.*3C>T NA NA UTR3 ENSG00000161653 ENST00000293404:c.*3C>T,ENST00000589767:c.*3C>T NA NA NA NA 17q21.31 NA NA NA NA rs186636 0.48 0.48 0.481 0.475639 0.6441 0.2718 0.5029 0.4009 0.5941 0.65 0.26 0.52 0.43 0.566 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357667 NA NA 0.648256 0.424875 NA 0.522 NA 2.4749774 1405 9 136133506 136133506 A G exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs512770 0.74 0.74 0.737 0.726438 0.8052 0.7113 0.5764 0.7247 0.7699 0.81 0.72 0.64 0.72 0.7604 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735752 NA 1 0.79285 0.749762 NA 0.819 NA 2.4748833 1405 16 84215314 84215314 T C intronic TAF1C NA NA NA intronic ENSG00000103168 NA NA NA NA NA 16q24.1 NA NA NA NA rs3815814 0.51 0.51 0.538 0.523962 0.496 0.5704 0.5187 0.469 0.5828 0.49 0.6 0.48 0.48 0.5249 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503937 NA NA 0.504651 0.4725 NA 0.428 NA 2.474449 1405 18 50937026 50937026 A G intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs11873515 0.35 0.35 0.322 0.309904 0.5368 0.2252 0.3127 0.1732 0.3466 0.53 0.23 0.37 0.18 0.4537 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616934 NA NA 0.535598 0.241144 NA 0.399 NA 2.473902 1405 18 50936780 50936780 G A intronic DCC NA NA NA intronic ENSG00000187323 NA NA NA NA NA 18q21.2 NA NA NA NA rs10853631 0.35 0.35 0.321 0.311102 0.5378 0.2302 0.3127 0.1732 0.3466 0.53 0.23 0.37 0.18 0.4524 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142436 NA NA 0.53593 0.240808 NA 0.399 NA 2.47387 1405 16 84214837 84214837 G C intronic TAF1C NA NA NA intronic ENSG00000103168 NA NA NA NA NA 16q24.1 NA NA NA NA rs2303234 0.52 0.52 0.532 0.522165 0.498 0.5665 0.5187 0.4614 0.5859 0.49 0.6 0.48 0.48 0.5241 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357141 NA NA 0.504884 0.465682 NA 0.406 NA 2.473016 1405 12 81647471 81647471 T A intronic ACSS3 NA NA NA intronic ENSG00000111058 NA NA NA NA NA 12q21.31 NA NA NA NA rs2400895 0.41 0.41 0.407 0.404153 0.5089 0.2133 0.4308 0.4402 0.4254 0.48 0.24 0.42 0.48 0.4839 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343823 NA NA 0.535233 0.45663 NA 0.543 NA 2.471967 1405 7 101196688 101196688 C T intronic COL26A1 NA NA NA intronic ENSG00000160963 NA NA NA NA NA 7q22.1 NA NA NA NA rs13235234 0.36 0.36 0.36 0.372005 0.5477 0.1052 0.3876 0.3646 0.4652 0.55 0.09 0.41 0.36 0.4557 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796058 NA NA 0.525012 0.400414 NA 0.536 NA 2.471588 1405 17 28378276 28378276 C T intronic EFCAB5 NA NA NA intronic ENSG00000176927 NA NA NA NA NA 17q11.2 NA NA NA NA rs11653805 0.45 0.45 0.446 0.45607 0.5368 0.2917 0.4323 0.5469 0.4366 0.52 0.29 0.45 0.53 0.4815 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903805 NA NA 0.510422 0.578485 NA 0.341 NA 2.471278 1405 14 91642234 91642234 A G intronic C14orf159 NA NA NA intronic ENSG00000133943 NA NA NA NA NA 14q32.11 NA NA NA NA rs2295528 0.49 0.49 0.459 0.449481 0.5318 0.7242 0.5591 0.0651 0.5235 0.53 0.77 0.52 0.07 0.4991 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500004 NA NA 0.497907 0.148888 NA 0.304 NA 2.471193 1405 18 40613840 40613840 A G intronic RIT2 NA NA NA intronic ENSG00000152214 NA NA NA NA NA 18q12.3 NA NA NA NA rs12954451 0.37 0.37 0.329 0.332268 0.5398 0.1716 0.3646 0.1921 0.4509 0.55 0.19 0.43 0.25 0.4651 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938921 NA NA 0.524075 0.207898 NA 0.326 NA 2.471025 1405 1 67292478 67292478 T A intronic WDR78 NA NA NA intronic ENSG00000152763 NA NA NA NA NA 1p31.3 NA NA NA NA rs36067642 0.45 0.45 0.422 0.46905 0.5239 0.37 0.4524 0.3752 0.6534 0.54 0.35 0.5 0.39 0.4987 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03565 NA NA 0.506628 0.374489 NA 0.442 NA 2.470772 1405 11 2215857 2215857 A T intergenic MIR4686,ASCL2 dist=21489;dist=73871 NA NA intergenic ENSG00000265258,ENSG00000183734 dist=21489;dist=73868 NA NA NA NA 11p15.5 NA NA NA NA rs7950872 0.66 0.66 0.662 0.655751 0.8628 0.8224 0.6902 0.2156 0.8415 0.85 0.78 0.67 0.24 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475558 NA NA NA NA NA NA NA 2.4705334 1405 18 70532840 70532840 T G UTR5 NETO1 NM_138999:c.-8A>C NA NA UTR5 ENSG00000166342 ENST00000299430:c.-8A>C,ENST00000397929:c.-8A>C NA NA NA NA 18q22.3 NA NA NA NA rs10164255 0.74 0.74 0.774 0.710863 0.6262 0.877 0.562 0.8116 0.5961 0.63 0.91 0.6 0.78 0.6366 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422082 1.422082 NA 0.600233 0.777349 NA 0.775 NA 2.4703004 1405 11 31812215 31812215 A C intronic PAX6 NA NA NA intronic ENSG00000007372 NA NA NA NA NA 11p13 NA NA NA NA rs3026393 0.45 0.45 0.433 0.454273 0.5318 0.4583 0.3948 0.3147 0.6012 0.53 0.48 0.41 0.33 0.486 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.020597 NA NA 0.51198 0.320163 NA 0.391 NA 2.47022 1405 16 84492683 84492683 A C intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs693552 0.44 0.44 0.425 0.441294 0.5368 0.2996 0.4409 0.5386 0.3579 0.54 0.27 0.47 0.48 0.4826 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.161137 NA NA 0.510536 0.539376 NA 0.478 NA 2.470064 1405 8 139736933 139736933 C A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs10112806 0.46 0.46 0.452 0.442492 0.5278 0.2629 0.4553 0.5257 0.4182 0.53 0.27 0.53 0.53 0.4886 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491593 NA NA 0.513721 0.524512 NA 0.551 NA 2.469879 1405 17 15973844 15973844 A T intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p12 NA NA NA NA rs12942295 0.37 0.37 0.339 0.351637 0.5328 0.1528 0.4481 0.3064 0.363 0.53 0.14 0.45 0.33 0.4577 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.57267 2.57267 NA 0.540465 0.345665 NA 0.348 NA 2.469035 1405 3 187416253 187416253 C T UTR3 RTP2 NM_001004312:c.*33G>A NA NA UTR3 ENSG00000198471 ENST00000358241:c.*33G>A NA NA NA NA 3q27.3 NA NA NA NA rs1523468 0.53 0.53 0.464 0.492013 0.6372 0.7361 0.5634 0.0461 0.6431 0.63 0.77 0.57 0.07 0.6091 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395517 NA NA 0.618516 0.152292 NA 0.522 NA 2.4685174 1405 14 77928476 77928476 C T intronic AHSA1 NA NA NA intronic ENSG00000100591 NA NA NA NA NA 14q24.3 NA NA NA NA rs12436593 0.54 0.54 0.518 0.510783 0.4871 0.9177 0.5231 0.2095 0.5143 0.49 0.92 0.47 0.2 0.5225 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.591685 1.591685 NA 0.522326 0.260554 NA 0.428 NA 2.468074 1405 19 41707094 41707094 A G intronic CYP2S1 NA NA NA intronic ENSG00000167600 NA NA NA NA NA 19q13.2 NA NA NA NA rs1628289 0.59 0.59 0.621 0.610623 0.5099 0.5635 0.3876 0.9047 0.5235 0.51 0.53 0.48 0.87 0.5255 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366985 NA NA 0.496744 0.835906 NA 0.594 NA 2.467856 1405 15 45556829 45556829 A G intronic SLC28A2 NA NA NA ncRNA_exonic ENSG00000259520 NA NA NA NA NA 15q21.1 NA NA NA NA rs11631021 0.48 0.48 0.481 0.488818 0.6372 0.1181 0.4452 0.6891 0.4785 0.66 0.06 0.49 0.68 0.5603 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.981648 1.981648 NA 0.668101 0.72202 NA 0.601 NA 2.4677323 1405 16 50327462 50327462 G A intronic ADCY7 NA NA NA intronic ENSG00000121281 NA NA NA NA NA 16q12.1 NA NA NA NA rs2302714 0.4 0.4 0.368 0.375399 0.5209 0.1845 0.4452 0.3828 0.363 0.51 0.18 0.46 0.45 0.4723 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616973 NA NA 0.53966 0.399636 NA 0.355 NA 2.46714 1405 20 36965617 36965617 A G UTR3 BPI NM_001725:c.*31A>G NA NA UTR3 ENSG00000101425 ENST00000262865:c.*31A>G,ENST00000417318:c.*31A>G NA NA NA NA 20q11.23 NA NA NA NA rs1131847 0.62 0.62 0.633 0.652356 0.6143 0.5486 0.5937 0.7905 0.6534 0.62 0.53 0.57 0.77 0.6237 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345547 NA NA 0.628837 0.766001 NA 0.507 NA 2.4664964 1405 15 42175507 42175507 T C intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA NA Name=5 NA rs1197692 0.89 0.89 0.895 0.870807 0.8439 0.9702 0.8847 0.8661 0.7924 0.85 0.98 0.89 0.84 0.8528 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75027 NA NA 0.838172 0.86544 NA 0.87 NA 2.465128 1405 19 10251747 10251747 A G intronic DNMT1 NA NA NA intronic ENSG00000130816 NA NA NA NA NA 19p13.2 NA NA NA NA rs2290684 0.47 0.47 0.469 0.471645 0.5398 0.3542 0.5432 0.4811 0.4591 0.54 0.35 0.53 0.44 0.4838 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03775 NA NA 0.511395 0.504085 NA 0.384 NA 2.465005 1406 4 39343940 39343940 C A intronic RFC1 NA NA NA intronic ENSG00000035928 NA NA NA NA NA 4p14 NA NA NA NA rs2306596 0.46 0.46 0.422 0.440096 0.496 0.621 0.5865 0.0514 0.6176 0.51 0.65 0.6 0.07 0.5143 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611531 NA NA 0.525349 0.142079 NA 0.457 NA 2.464351 1406 22 39445380 39445380 G A intronic APOBEC3F NA NA NA intronic ENSG00000128394,ENSG00000239713 NA NA NA NA NA 22q13.1 NA NA NA NA rs2014881 0.5 0.5 0.474 0.496206 0.4901 0.7113 0.6182 0.1899 0.6084 0.47 0.71 0.65 0.2 0.5158 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.920599 NA NA 0.529767 0.250113 NA 0.442 NA 2.464333 1406 9 90062823 90062823 A G intergenic C9orf170,DAPK1 dist=288182;dist=49933 NA NA intergenic ENSG00000228373,ENSG00000196730 dist=24015;dist=49320 NA NA NA NA 9q21.33 NA Name=USF1_(SC-8983),GATA-1,eGFP-GATA2 NA NA rs12682834 0.61 0.61 0.572 0.636781 0.6064 0.7242 0.6801 0.4516 0.7975 0.61 0.72 0.65 0.46 0.6466 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639773 NA NA 0.616775 0.485731 NA 0.638 NA 2.4635584 1406 3 45748435 45748435 A G intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2673039 0.37 0.37 0.351 0.314297 0.5616 0.2123 0.428 0.1702 0.2791 0.58 0.19 0.46 0.18 0.443 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457961 NA NA 0.53186 0.209033 NA 0.362 NA 2.46354 1406 9 27173180 27173180 C T intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs666478 0.47 0.47 0.47 0.466853 0.5209 0.2907 0.5476 0.5575 0.4131 0.52 0.28 0.57 0.53 0.4885 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303534 NA NA 0.527442 0.545393 NA 0.493 NA 2.463158 1406 13 113891075 113891075 G A intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs2287253 0.7 0.7 0.702 0.649161 0.7654 0.6627 0.634 0.6377 0.5419 0.75 0.68 0.65 0.67 NA 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364121 NA NA 0.772156 0.67052 NA 0.703 NA 2.462444 1406 5 147478785 147478785 C T intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs1422991 0.44 0.44 0.385 0.440096 0.4871 0.4831 0.6225 0.2231 0.5112 0.46 0.46 0.59 0.26 0.54 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648833 NA NA 0.510941 0.265095 NA 0.37 NA 2.461959 1406 2 242707101 242707101 A G intronic D2HGDH NA NA NA intronic ENSG00000180902 NA NA NA NA NA 2q37.3 NA NA NA NA rs6756901 0.62 0.62 0.63 0.629992 0.5129 0.6181 0.513 0.9319 0.4376 0.5 0.59 0.51 0.93 0.5294 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.971462 NA NA 0.495805 0.854678 NA 0.464 NA 2.461895 1406 5 135396669 135396669 T C intronic TGFBI NA NA NA intronic ENSG00000120708 NA NA NA NA NA 5q31.1 NA NA NA NA rs6880837 0.59 0.59 0.607 0.591054 0.5 0.5933 0.5101 0.7564 0.5164 0.48 0.6 0.53 0.76 0.5383 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880511 NA NA 0.50237 0.726874 NA 0.659 NA 2.45933 1406 22 38467784 38467784 G C intronic PICK1 NA NA NA ncRNA_intronic ENSG00000233739 NA NA NA NA NA 22q13.1 NA NA NA NA rs760975 0.71 0.71 0.722 0.722045 0.6054 0.8085 0.6225 0.8812 0.6084 0.62 0.76 0.58 0.89 0.6602 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2964 NA NA 0.609419 0.842488 NA 0.594 NA 2.4583143 1406 15 25328715 25328715 T C upstream;downstream SNORD116-17,SNORD116-19;SNORD116-16 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs3803326 0.61 0.61 0.619 0.588259 0.5626 0.5635 0.6182 0.7443 0.408 0.57 0.55 0.65 0.71 0.5728 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875507 NA NA 0.573581 0.716324 NA 0.652 NA 2.4576856 1406 1 26655208 26655208 C T intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA NA 1p36.11 NA NA NA NA rs11247916 0.44 0.44 0.449 0.457069 0.5308 0.1825 0.3847 0.6672 0.4315 0.54 0.19 0.4 0.61 0.4883 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543387 NA NA 0.523372 0.635497 NA 0.478 NA 2.457528 1406 5 176305466 176305466 T A intronic UNC5A NA NA NA intronic ENSG00000113763 NA NA NA NA NA 5q35.2 NA NA NA NA rs2304516 0.6 0.6 0.57 NA NA NA NA NA NA 0.8 0.59 0.61 0.29 0.7287 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636696 NA NA 0.81407 0.342714 NA 0.623 NA 2.45723 1406 18 48326378 48326378 G T intronic MRO NA NA NA intronic ENSG00000134042 NA NA NA NA NA 18q21.2 NA NA NA NA rs2586778 0.44 0.44 0.431 0.439297 0.5378 0.3631 0.5576 0.27 0.5613 0.54 0.39 0.56 0.25 0.5005 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78577 NA NA 0.504535 0.315706 NA 0.312 NA 2.457165 1406 17 10309962 10309962 C T intronic MYH8 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs2024076 0.54 0.54 0.534 0.531749 0.6819 0.1657 0.5187 0.7587 0.4571 0.69 0.16 0.54 0.77 0.5607 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.53359 NA NA 0.633606 0.723182 NA 0.471 NA 2.4571273 1406 14 104027557 104027557 C T intronic BAG5 NA NA NA ncRNA_intronic ENSG00000258851 NA NA NA NA NA 14q32.33 NA NA NA NA rs11625397 0.58 0.58 0.586 0.522364 0.6412 0.4673 0.572 0.5756 0.3497 0.65 0.46 0.6 0.59 0.5817 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.353821 1.353821 NA 0.654102 0.586397 NA 0.601 NA 2.4563313 1406 13 114323997 114323997 T C intronic GRK1 NA NA NA intronic ENSG00000185974 NA NA NA NA NA 13q34 NA NA NA NA rs9796234 0.48 0.48 0.427 0.48123 0.5189 0.6349 0.4813 0.1989 0.6656 0.54 0.61 0.5 0.22 0.5289 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.506948 1.506948 NA 0.496459 0.24231 NA 0.268 NA 2.455741 1406 14 22392366 22392366 C T intergenic OR4E2,DAD1 dist=258128;dist=641441 NA NA intronic ENSG00000211792 NA NA NA NA NA 14q11.2 NA NA NA NA rs12437316 0.48 0.48 0.491 0.465655 0.3956 0.504 0.513 0.5091 0.4059 0.41 0.55 0.46 0.51 0.4206 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718697 NA NA 0.39513 0.466468 NA 0.529 NA 2.4553367 1407 17 48477246 48477246 A G intergenic LRRC59,ACSF2 dist=2332;dist=26273 NA NA intergenic ENSG00000253102,ENSG00000167107 dist=1997;dist=26273 NA NA NA NA 17q21.33 NA NA NA NA rs11079914 0.72 0.72 0.715 0.726637 0.8787 0.244 0.879 0.9259 0.6902 0.87 0.24 0.91 0.93 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582429 NA NA NA NA NA 0.833 NA 2.4546334 1407 10 24878129 24878129 G A intronic ARHGAP21 NA NA NA intronic ENSG00000107863 NA NA NA NA NA 10p12.1 NA NA NA NA rs7478260 0.79 0.79 0.803 0.816094 0.7634 0.7649 0.7695 0.9478 0.7781 0.76 0.73 0.78 0.94 NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328636 NA NA 0.781979 0.921243 NA 0.797 NA 2.454621 1407 11 95521648 95521648 A G intronic FAM76B NA NA NA intronic ENSG00000077458 NA NA NA NA NA 11q21 NA NA NA NA rs1727165 0.57 0.57 0.612 0.577276 0.5119 0.3433 0.4942 0.9274 0.4714 0.51 0.39 0.54 0.92 0.5215 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445488 1.445488 NA 0.512027 0.841147 NA 0.601 NA 2.454573 1407 22 40803186 40803186 G T intronic SGSM3 NA NA NA intronic ENSG00000100359 NA NA NA NA NA 22q13.1 NA NA NA NA rs2018393 0.58 0.58 0.6 0.622804 0.494 0.3006 0.6686 0.9637 0.5941 0.51 0.33 0.63 0.96 0.5557 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76302 NA NA 0.495814 0.894641 NA 0.681 NA 2.454486 1407 1 113234456 113234456 G A intronic MOV10 NA NA NA intronic ENSG00000155363 NA NA NA NA NA 1p13.2 NA NA NA NA rs2932532 0.47 0.47 0.484 0.519569 0.5119 0.371 0.572 0.503 0.6656 0.49 0.34 0.58 0.51 0.5107 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271034 NA NA 0.523488 0.522015 NA 0.529 NA 2.453912 1407 22 50715973 50715973 G T intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs28637964 0.45 0.45 0.432 0.442093 0.5378 0.5387 0.3285 0.2632 0.5665 0.54 0.54 0.34 0.3 0.4877 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023982 NA NA 0.520743 0.283023 NA 0.362 NA 2.453757 1407 3 45776900 45776900 A G intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs1468543 0.37 0.37 0.336 0.314497 0.5616 0.2123 0.428 0.171 0.2791 0.58 0.19 0.46 0.18 0.4525 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.414822 1.414822 NA 0.532209 0.209714 NA 0.362 NA 2.453691 1407 12 110221631 110221631 G C intronic TRPV4 NA NA NA intronic ENSG00000111199 NA NA NA NA NA 12q24.11 NA NA NA NA rs10774894 0.57 0.57 0.575 0.561901 0.5129 0.7639 0.487 0.4418 0.6196 0.51 0.79 0.47 0.48 0.5389 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.907513 NA NA 0.494535 0.440082 NA 0.391 NA 2.453665 1407 16 50327439 50327439 A G intronic ADCY7 NA NA NA intronic ENSG00000121281 NA NA NA NA NA 16q12.1 NA NA NA NA rs2302712 0.41 0.41 0.376 0.388578 0.5278 0.2004 0.4524 0.4092 0.3661 0.52 0.19 0.46 0.45 0.4739 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802599 NA NA 0.544884 0.430391 NA 0.384 NA 2.453416 1407 6 33659536 33659536 A G intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296740 0.56 0.56 0.498 0.583067 0.498 0.8998 0.6167 0.2156 0.817 0.51 0.88 0.62 0.24 0.5755 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693634 NA NA 0.47314 0.311394 NA 0.536 NA 2.45336 1407 22 37319425 37319425 G T intronic CSF2RB NA NA NA intronic ENSG00000100368 NA NA NA NA NA 22q12.3 NA NA NA NA rs2072713 0.49 0.49 0.461 0.454273 0.5169 0.5526 0.6081 0.329 0.3487 0.53 0.57 0.55 0.31 0.5152 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749803 NA NA 0.515698 0.362625 NA 0.536 NA 2.452202 1407 1 14149601 14149601 C T intronic PRDM2 NA NA NA intronic ENSG00000116731 NA NA NA NA NA 1p36.21 NA NA NA NA rs2697969 0.74 0.74 0.743 0.714257 0.7893 0.621 0.7723 0.7292 0.6718 0.8 0.64 0.79 0.75 NA 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.106657 NA NA 0.758642 0.716763 NA 0.768 NA 2.452058 1407 12 124364131 124364131 G C intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs1317312 0.48 0.48 0.468 0.473842 0.5378 0.2867 0.5231 0.5514 0.4611 0.54 0.29 0.54 0.53 0.4953 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115706 NA NA 0.515052 0.563351 NA 0.428 NA 2.451848 1407 7 156971581 156971581 T C intronic UBE3C NA NA NA intronic ENSG00000009335 NA NA NA NA NA 7q36.3 NA NA NA NA rs870745 0.62 0.62 0.616 0.627196 0.506 0.5109 0.5576 0.9554 0.4775 0.49 0.52 0.6 0.93 0.5427 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457269 NA NA 0.501163 0.893327 NA 0.638 NA 2.450137 1407 7 2400306 2400306 T C intronic EIF3B NA NA NA intronic ENSG00000106263 NA NA NA NA NA 7p22.3 NA NA NA NA rs953770 0.53 0.53 0.499 0.467652 0.5129 0.7242 0.6023 0.2436 0.364 0.53 0.74 0.59 0.24 0.5193 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330018 NA NA 0.518605 0.305266 NA 0.399 NA 2.449195 1407 19 29567134 29567134 T C intergenic LOC100505835,UQCRFS1 dist=62272;dist=131033 NA NA intergenic ENSG00000267014,ENSG00000169021 dist=62272;dist=131039 NA NA NA NA 19q12 NA NA NA NA rs1549944 0.48 0.48 0.48 0.493211 0.3797 0.5347 0.438 0.6505 0.3937 0.39 0.52 0.42 0.62 0.5047 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08011 NA NA NA NA NA 0.522 NA 2.4489334 1407 19 36038390 36038390 A G UTR3 TMEM147 NM_032635:c.*41A>G,NM_001242597:c.*41A>G,NM_001242598:c.*41A>G NA NA UTR3 ENSG00000105677 ENST00000222284:c.*41A>G,ENST00000593027:c.*297A>G,ENST00000392204:c.*41A>G NA NA NA NA 19q13.12 NA NA NA NA rs7599 0.65 0.65 0.618 0.646166 0.6193 0.7391 0.6844 0.5318 0.7055 0.62 0.77 0.68 0.53 0.6446 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12643 NA NA 0.620958 0.571266 NA 0.558 NA 2.4484754 1407 1 17720439 17720439 T C intronic PADI6 NA NA NA ncRNA_intronic ENSG00000256049 NA NA NA NA NA 1p36.13 NA NA NA NA rs6695849 0.58 0.58 0.54 0.570887 0.6133 0.5268 0.6254 0.4864 0.6483 0.63 0.55 0.64 0.49 0.6244 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259227 NA NA 0.647396 0.534729 NA 0.543 NA 2.4482373 1407 22 45794925 45794925 C A intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs79154 0.65 0.65 0.663 0.704473 0.505 0.7014 0.5317 0.9327 0.727 0.49 0.66 0.57 0.91 0.5677 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957628 NA NA 0.479105 0.862311 NA 0.797 NA 2.448195 1407 14 106478464 106478464 T C intergenic ADAM6,LINC00226 dist=40106;dist=265805 NA NA intronic ENSG00000211936 NA NA NA NA NA 14q32.33 NA NA NA NA rs80132192 0.51 0.51 NA 0.591653 0.5984 0.7192 0.6052 0.3631 0.7526 0.53 0.65 0.52 0.32 0.6211 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838155 NA NA NA NA NA 0.116 NA 2.4471667 1407 12 51890721 51890721 G A intronic SLC4A8 NA NA NA intronic ENSG00000050438 NA NA NA NA NA 12q13.13 NA NA NA NA rs10783448 0.44 0.44 0.424 0.435104 0.5368 0.3671 0.4251 0.351 0.5215 0.53 0.4 0.49 0.33 0.4944 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12926 NA NA 0.522018 0.39591 NA 0.565 NA 2.446782 1407 4 100045647 100045647 A G ncRNA_intronic LOC100507053 NA NA NA ncRNA_intronic ENSG00000246090 NA NA NA NA NA 4q23 NA NA NA NA rs2602894 0.86 0.86 0.866 0.882987 0.7227 1 0.8271 0.9312 0.9018 0.73 1 0.81 0.93 0.786 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.169998 NA NA 0.711274 0.89 NA 0.761 NA 2.4466926 1407 3 189712090 189712090 G A intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA NA NA NA rs1719598 0.65 0.65 NA 0.760982 0.7694 0.9355 0.7781 0.6172 0.7546 0.65 0.82 0.67 0.45 0.7844 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.409514 NA NA NA NA NA NA NA 2.4462 1407 1 35563206 35563206 C G intronic ZMYM1 NA NA NA intronic ENSG00000197056 NA NA NA NA NA 1p34.3 NA NA Name=49 NA rs6658571 0.6 0.6 0.58 0.590056 0.8946 0.3522 0.6441 0.3623 0.7914 0.9 0.34 0.7 0.35 0.7709 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416132 NA NA 0.889065 0.453589 NA 0.688 NA 2.445435 1407 6 160229889 160229889 T C intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA NA NA 6q25.3 NA NA NA NA rs35872675 0.35 0.35 0.302 0.356629 0.5119 0.1617 0.5807 0.1679 0.4939 0.52 0.15 0.55 0.17 0.4982 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.243994 NA NA 0.544767 0.214026 NA 0.283 NA 2.445133 1408 14 24523594 24523594 G A intronic LRRC16B NA NA NA intronic ENSG00000186648 NA NA NA NA NA 14q11.2 NA NA NA NA rs11158525 0.42 0.42 0.468 0.425519 0.5447 0.1161 0.5879 0.5182 0.3814 0.54 0.1 0.59 0.51 0.4858 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.248433 1.248433 NA 0.524767 0.520654 NA 0.42 NA 2.444733 1408 17 78188963 78188963 G A intronic SGSH NA NA NA intronic ENSG00000181523 NA NA NA NA NA 17q25.3 NA NA NA NA rs4889839 0.57 0.57 0.575 0.556909 0.5169 0.6181 0.4193 0.6551 0.5 0.52 0.66 0.43 0.65 0.5356 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.535974 NA NA 0.502908 0.641621 NA 0.558 NA 2.444592 1408 5 153372525 153372525 G A UTR3 FAM114A2 NM_018691:c.*11C>T NA NA UTR3 ENSG00000055147 ENST00000351797:c.*11C>T,ENST00000522858:c.*11C>T,ENST00000520667:c.*11C>T,ENST00000520313:c.*11C>T NA NA NA NA 5q33.2 NA NA NA NA rs1057772 0.68 0.68 0.677 0.666933 0.6193 0.8571 0.6873 0.4977 0.7342 0.63 0.87 0.65 0.56 0.6553 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.011672 NA NA 0.614186 0.54108 NA 0.616 NA 2.4445474 1408 8 29005128 29005128 A G intronic KIF13B NA NA NA intronic ENSG00000197892 NA NA NA NA NA 8p12 NA NA NA NA rs13263819 0.36 0.36 0.333 0.324481 0.5527 0.1448 0.3689 0.208 0.4008 0.55 0.16 0.39 0.27 0.4603 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.680887 2.680887 NA 0.54261 0.263158 NA 0.29 NA 2.44439 1408 19 21587918 21587918 G T intronic ZNF493 NA NA NA intronic ENSG00000196268 NA NA NA NA NA 19p12 NA NA NA NA rs7254059 0.59 0.59 0.58 0.576677 0.496 0.627 0.5461 0.6331 0.5532 0.49 0.67 0.57 0.67 0.5396 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.965714 NA NA 0.520116 0.622106 NA 0.377 NA 2.444284 1408 4 100045574 100045574 T C ncRNA_UTR3 ADH4 NA NA NA ncRNA_UTR3 ENSG00000198099 NA NA NA NA NA 4q23 NA NA NA NA rs1042364 0.86 0.86 0.866 0.882788 0.7227 1 0.8271 0.9312 0.9008 0.73 1 0.81 0.93 0.7887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448911 NA NA 0.711145 0.89 NA 0.761 NA 2.4441216 1408 20 44639511 44639511 C T intronic MMP9 NA NA NA intronic ENSG00000100985 NA NA NA NA NA 20q13.12 NA NA NA NA rs3918253 0.28 0.28 0.28 0.260583 0.5427 0.001 0.3357 0.1936 0.2751 0.53 0.0017 0.36 0.16 0.4334 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950838 NA NA 0.579884 0.261235 NA 0.435 NA 2.444016 1408 7 1024581 1024581 T C intronic CYP2W1 NA NA NA intronic ENSG00000073067 NA NA NA NA NA 7p22.3 NA NA NA NA rs3824081 0.62 0.62 0.608 0.59984 0.497 0.6151 0.6066 0.761 0.4673 0.5 0.68 0.57 0.78 0.5559 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112253 NA NA 0.503264 0.713539 NA 0.623 NA 2.443836 1408 1 93711782 93711782 T A intronic CCDC18 NA NA NA intronic ENSG00000122483 NA NA NA NA NA 1p22.1 NA NA NA NA rs3754186 0.45 0.45 0.401 0.442292 0.5408 0.6429 0.5274 0.0212 0.6431 0.54 0.66 0.51 0.04 0.5061 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367145 NA NA 0.510442 0.10245 NA 0.42 NA 2.442658 1408 3 167754573 167754573 A G intronic GOLIM4 NA NA NA intronic ENSG00000173905 NA NA NA NA NA 3q26.2 NA NA NA NA rs6786410 0.46 0.46 0.509 0.453474 0.5477 0.0933 0.353 0.8064 0.3221 0.54 0.08 0.39 0.82 0.4713 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847482 NA NA 0.538488 0.756922 NA 0.536 NA 2.442512 1408 11 102207851 102207851 G A UTR3 BIRC3 NM_182962:c.*18G>A,NM_001165:c.*18G>A NA NA UTR3 ENSG00000023445 ENST00000263464:c.*18G>A,ENST00000532808:c.*18G>A NA NA NA NA 11q22.2 NA NA NA NA rs1055088 0.65 0.65 0.645 0.65635 0.6093 0.7242 0.5937 0.6793 0.6483 0.62 0.68 0.61 0.68 0.6635 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699547 NA NA 0.618222 0.67257 NA 0.652 NA 2.4423114 1408 1 17720615 17720615 A C intronic PADI6 NA NA NA ncRNA_intronic ENSG00000256049 NA NA NA NA NA 1p36.13 NA NA NA NA rs10458537 0.58 0.58 0.544 0.572085 0.6143 0.5268 0.6282 0.4864 0.6513 0.63 0.55 0.64 0.49 0.626 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823765 NA NA 0.650824 0.53673 NA 0.543 NA 2.4422093 1408 1 68173264 68173264 C T intronic GNG12 NA NA NA intronic ENSG00000172380 NA NA NA NA NA 1p31.3 NA NA NA NA rs2295942 0.41 0.41 0.381 0.413738 0.5129 0.4216 0.4885 0.1611 0.592 0.5 0.43 0.49 0.16 0.5066 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447781 NA NA 0.538372 0.235134 NA 0.478 NA 2.442128 1408 2 44152180 44152180 G A intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs4952694 0.72 0.72 0.726 0.751997 0.4891 0.9663 0.6398 0.9017 0.6789 0.48 0.96 0.57 0.91 0.593 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572817 NA NA 0.47593 0.820699 NA 0.667 NA 2.44197 1408 16 84473137 84473137 G C intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA Name=2 NA rs247904 0.88 0.88 0.861 0.862819 0.8529 0.9573 0.8876 0.7784 0.8722 0.86 0.94 0.89 0.81 0.8496 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.40821 NA NA 0.855537 0.817574 NA 0.862 NA 2.441963 1408 9 93629347 93629347 G A intronic SYK NA NA NA intronic ENSG00000165025 NA NA NA NA NA 9q22.2 NA NA NA NA rs1760124 0.88 0.88 0.888 0.89397 0.7744 0.9673 0.8689 0.9554 0.8763 0.77 0.98 0.86 0.95 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83337 NA NA 0.784098 0.924855 NA 0.833 NA 2.441502 1408 20 44640959 44640959 G A intronic MMP9 NA NA NA intronic ENSG00000100985 NA NA NA NA NA 20q13.12 NA NA NA NA rs3918256 0.28 0.28 0.309 0.260583 0.5437 0.001 0.3357 0.1929 0.2751 0.53 0.0017 0.36 0.16 0.4361 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.440164 NA NA 0.579223 0.261235 NA 0.449 NA 2.440977 1408 4 8608979 8608979 G A intronic CPZ NA NA NA intronic ENSG00000109625,ENSG00000155269 NA NA NA NA NA 4p16.1 NA NA NA NA rs2302578 0.47 0.47 0.462 0.466853 0.5417 0.4841 0.6326 0.2088 0.6033 0.54 0.52 0.6 0.23 0.5085 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529664 NA NA 0.508837 0.256468 NA 0.399 NA 2.440963 1408 18 7774104 7774104 T C intronic PTPRM NA NA NA intronic ENSG00000173482 NA NA NA NA NA 18p11.23 NA NA NA NA rs875530 0.53 0.53 0.507 0.532348 0.5 0.8472 0.5259 0.2194 0.6687 0.5 0.85 0.49 0.23 0.5461 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.57431 NA NA 0.513256 0.291648 NA 0.5 NA 2.440644 1408 3 189590824 189590824 G C intronic TP63 NA NA NA intronic ENSG00000073282 NA NA NA NA NA 3q28 NA NA NA NA rs9840359 0.48 0.48 0.525 0.48762 0.5557 0.3502 0.4323 0.6649 0.3589 0.53 0.35 0.46 0.57 0.4953 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770223 NA NA 0.50907 0.569224 NA 0.355 NA 2.43993 1408 1 113202417 113202417 G A intronic CAPZA1 NA NA NA intronic ENSG00000116489 NA NA NA NA NA 1p13.2 NA NA NA NA rs2932536 0.47 0.47 0.467 0.521965 0.5129 0.372 0.572 0.5204 0.6524 0.49 0.34 0.58 0.52 0.5246 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.205919 NA NA 0.523721 0.52837 NA 0.529 NA 2.438779 1408 8 141561393 141561393 G C intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs2292779 0.55 0.55 0.588 0.669728 0.494 0.6052 0.6138 0.916 0.6237 0.46 0.5 0.54 0.76 0.5841 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04478 NA NA 0.484859 0.821721 NA 0.659 NA 2.437041 1408 9 20778631 20778631 A G intronic FOCAD NA NA NA intronic ENSG00000188352 NA NA NA NA NA 9p21.3 NA NA Name=4 NA rs7875153 0.83 0.83 0.816 0.822684 0.8559 0.755 0.9207 0.7806 0.8456 0.86 0.79 0.92 0.77 0.8503 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.497675 3.497675 NA 0.857874 0.781463 NA 0.775 NA 2.435926 1408 3 193081206 193081206 G A intronic ATP13A5 NA NA NA intronic ENSG00000187527 NA NA NA NA NA 3q29 NA NA NA NA rs2367605 0.54 0.54 0.551 0.522165 0.5288 0.3859 0.5274 0.6762 0.4438 0.54 0.41 0.56 0.69 0.5177 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278769 NA NA 0.517907 0.641171 NA 0.587 NA 2.435593 1408 8 92972780 92972780 G A intronic RUNX1T1 NA NA NA intronic ENSG00000079102 NA NA NA NA NA 8q21.3 NA NA NA NA rs2977676 0.69 0.69 0.693 0.764377 0.4841 0.8879 0.6844 0.9062 0.7904 0.46 0.85 0.67 0.88 0.5903 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297456 NA NA 0.490581 0.832047 NA 0.638 NA 2.435019 1409 6 42934620 42934620 C T intronic PEX6 NA NA NA intronic ENSG00000124587 NA NA NA NA NA 6p21.1 NA NA NA NA rs3818554 0.48 0.48 0.505 0.49401 0.5447 0.1696 0.428 0.7625 0.4601 0.55 0.19 0.43 0.76 0.491 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067741 NA NA 0.529419 0.731276 NA 0.58 NA 2.434881 1409 6 42935998 42935998 G A intronic PEX6 NA NA NA intronic ENSG00000124587 NA NA NA NA NA 6p21.1 NA NA NA NA rs9471982 0.48 0.48 0.497 0.497604 0.5457 0.1696 0.428 0.7753 0.4601 0.55 0.19 0.43 0.77 0.4904 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928015 NA NA 0.530137 0.733864 NA 0.565 NA 2.433763 1409 1 17725358 17725358 C G intronic PADI6 NA NA NA ncRNA_intronic ENSG00000256049 NA NA NA NA NA 1p36.13 NA NA NA NA rs2244936 0.63 0.63 0.608 0.6248 0.6123 0.5377 0.6542 0.6755 0.638 0.63 0.56 0.67 0.68 0.6384 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282521 NA NA 0.649881 0.68288 NA 0.283 NA 2.4327523 1409 9 80022415 80022415 A T intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA NA NA NA rs2025846 0.57 0.57 0.553 0.584665 0.5209 0.6796 0.5447 0.5711 0.5992 0.52 0.65 0.57 0.55 0.5431 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.182004 NA NA 0.503267 0.561332 NA 0.587 NA 2.432733 1409 19 21588692 21588692 T C intronic ZNF493 NA NA NA intronic ENSG00000196268,ENSG00000269237 NA NA NA NA NA 19p12 NA NA NA NA rs1055753 0.59 0.59 0.567 0.589457 0.503 0.6359 0.5519 0.6589 0.5634 0.49 0.67 0.57 0.67 0.5447 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397632 NA NA 0.52 0.623014 NA 0.428 NA 2.4323 1409 6 42932715 42932715 C T intronic PEX6 NA NA NA intronic ENSG00000124587 NA NA NA NA NA 6p21.1 NA NA NA NA rs2274517 0.49 0.49 0.52 0.502796 0.5447 0.1696 0.4308 0.7958 0.4581 0.55 0.19 0.43 0.79 0.4935 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.867178 NA NA 0.529651 0.751021 NA 0.594 NA 2.432149 1409 7 23737795 23737795 T C intronic FAM221A NA NA NA intronic ENSG00000188732 NA NA NA NA NA 7p15.3 NA NA NA NA rs5029444 0.47 0.47 0.456 0.489816 0.5229 0.6181 0.5 0.2322 0.6646 0.51 0.59 0.49 0.26 0.5295 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295359 NA NA 0.515934 0.278711 NA 0.5 NA 2.431666 1409 14 73730290 73730290 C A intronic PAPLN NA NA NA intronic ENSG00000100767 NA NA NA NA NA 14q24.2 NA NA NA NA rs177385 0.63 0.63 0.644 0.665335 0.8141 0.376 0.6182 0.6467 0.8691 0.83 0.39 0.63 0.62 0.7553 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444302 NA NA NA NA NA 0.674 NA 2.4306 1409 14 92280037 92280037 T C intronic TC2N NA NA NA intronic ENSG00000165929 NA NA NA NA NA 14q32.12 NA NA NA NA rs10134181 0.46 0.46 0.434 0.397564 0.5239 0.4772 0.562 0.1732 0.3722 0.53 0.51 0.56 0.21 0.5013 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205676 NA NA 0.544556 0.224342 NA 0.391 NA 2.430244 1409 6 13365913 13365913 C G intronic GFOD1 NA NA NA intronic ENSG00000145990 NA NA NA NA NA 6p24.1 NA NA NA NA rs9367440 0.48 0.48 0.435 0.439297 0.5249 0.6677 0.5965 0.056 0.5225 0.54 0.7 0.55 0.08 0.5385 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659491 NA NA 0.506527 0.128394 NA 0.29 NA 2.430073 1409 6 42658752 42658752 T C intronic UBR2 NA NA NA intronic ENSG00000024048 NA NA NA NA NA 6p21.1 NA NA NA NA rs373341 0.47 0.47 0.483 0.469649 0.5517 0.3929 0.3991 0.4508 0.5399 0.56 0.41 0.4 0.48 0.497 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.470127 3.470127 NA 0.521512 0.472764 NA 0.471 NA 2.429788 1409 3 45748429 45748429 G A intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2742441 0.43 0.43 0.424 0.404952 0.5636 0.2639 0.4539 0.4297 0.319 0.58 0.22 0.48 0.4 0.4718 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447577 NA NA 0.535 0.42079 NA 0.42 NA 2.4296 1409 6 166743760 166743760 G C intronic SFT2D1 NA NA NA intronic ENSG00000198818 NA NA NA NA NA 6q27 NA NA NA NA rs9348119 0.48 0.48 0.466 0.478035 0.502 0.6161 0.5303 0.2284 0.6115 0.51 0.6 0.55 0.25 0.5582 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.674314 1.674314 NA 0.511977 0.276441 NA 0.333 NA 2.427823 1409 17 76482256 76482256 A G ncRNA_intronic LOC100996295 NA NA NA ncRNA_intronic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA rs691142 0.78 0.78 0.761 0.800919 0.7386 0.7153 0.8473 0.8812 0.8119 0.72 0.69 0.85 0.9 0.7661 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735915 NA NA 0.735008 0.86072 NA 0.775 NA 2.4269586 1409 16 18858727 18858727 A C intronic SMG1 NA NA NA intronic ENSG00000157106 NA NA NA NA NA 16p12.3 NA NA NA NA rs2650615 0.41 0.41 0.372 0.425319 0.5209 0.2242 0.536 0.407 0.4806 0.52 0.19 0.55 0.38 0.4929 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611366 NA NA 0.559419 0.434417 NA 0.442 NA 2.426781 1409 22 22891081 22891081 G T intronic PRAME NA NA NA intronic ENSG00000185686 NA NA NA NA NA 22q11.22 NA NA NA NA rs2072049 0.46 0.46 0.436 0.475639 0.5398 0.4603 0.4063 0.3585 0.6329 0.55 0.43 0.45 0.38 0.5184 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443141 NA NA 0.515501 0.373806 NA 0.391 NA 2.426299 1409 15 62327127 62327127 T C intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs2414758 0.55 0.55 0.478 0.507788 0.5229 0.4732 0.6614 0.4796 0.4571 0.56 0.51 0.64 0.51 0.5348 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092739 NA NA 0.516403 0.50227 NA 0.428 NA 2.425897 1410 3 12857823 12857823 C T intronic CAND2 NA NA NA intronic ENSG00000144712 NA NA NA NA NA 3p25.2 NA NA NA NA rs731646 0.43 0.43 0.459 0.384984 0.5815 0.3224 0.4049 0.3714 0.2515 0.57 0.29 0.38 0.4 0.47 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.053936 NA NA 0.525253 0.391082 NA 0.449 NA 2.423247 1410 3 9952788 9952788 T C intronic IL17RE NA NA NA intronic ENSG00000163701 NA NA NA NA NA 3p25.3 NA NA NA NA rs279571 0.44 0.44 0.45 0.44389 0.5487 0.0962 0.4827 0.6528 0.3845 0.55 0.07 0.49 0.67 0.4945 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.112517 NA NA 0.536163 0.633454 NA 0.355 NA 2.420637 1410 5 7690754 7690754 C T intronic ADCY2 NA NA NA intronic ENSG00000078295 NA NA NA NA NA 5p15.31 NA NA NA NA rs2914289 0.39 0.39 0.334 0.365216 0.5517 0.1627 0.5836 0.2897 0.3292 0.54 0.18 0.54 0.28 0.4865 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014269 NA NA 0.541163 0.312074 NA 0.391 NA 2.420637 1410 15 40589830 40589830 G A intronic PLCB2 NA NA NA intronic ENSG00000137841 NA NA NA NA NA 15q15.1 NA NA NA NA rs2305649 0.69 0.69 0.68 0.69369 0.4821 0.7857 0.6801 0.8336 0.637 0.5 0.84 0.63 0.84 0.5957 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083453 NA NA 0.501679 0.784596 NA 0.696 NA 2.420521 1410 21 35247873 35247873 C G intronic ITSN1 NA NA NA intronic ENSG00000205726,ENSG00000249209 NA NA NA NA NA 21q22.11 NA NA NA NA rs933130 0.57 0.57 0.583 0.581869 0.5139 0.6181 0.3905 0.7723 0.4928 0.52 0.6 0.38 0.76 0.5412 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654071 NA NA 0.524663 0.712892 NA 0.587 NA 2.420237 1410 2 44116836 44116836 C T intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs2955280 0.72 0.72 0.739 0.74381 0.5 0.9563 0.6398 0.8971 0.6421 0.49 0.95 0.56 0.91 0.5962 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.003629 2.003629 NA 0.484302 0.82138 NA 0.659 NA 2.419498 1410 21 22841123 22841123 G A intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA NA NA NA rs2250508 0.41 0.41 0.4 0.413139 0.5417 0.0565 0.415 0.6135 0.3763 0.55 0.05 0.44 0.61 0.48 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435999 NA NA 0.55974 0.60435 NA 0.536 NA 2.41856 1410 22 31335724 31335724 T A intronic MORC2 NA NA NA intronic ENSG00000133422 NA NA NA NA NA 22q12.2 NA NA NA NA rs1005252 0.59 0.59 0.584 0.605431 0.5169 0.7659 0.4986 0.6331 0.5695 0.5 0.7 0.56 0.63 0.5421 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176739 NA NA 0.522907 0.607354 NA 0.572 NA 2.418093 1410 1 15844926 15844926 C T intronic CASP9 NA NA NA intronic ENSG00000132906 NA NA NA NA NA 1p36.21 NA NA NA NA rs1820205 0.6 0.6 0.619 0.584665 0.5149 0.6538 0.4986 0.739 0.4376 0.54 0.63 0.5 0.74 0.5398 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165114 NA NA 0.527681 0.703586 NA 0.449 NA 2.417619 1410 17 73997474 73997474 G A ncRNA_exonic TEN1-CDK3 NA NA NA ncRNA_exonic ENSG00000261408 NA NA NA NA NA 17q25.1 NA NA NA NA rs2069528 0.82 0.82 0.841 0.842053 0.7237 0.8829 0.7622 0.9584 0.8211 0.73 0.88 0.74 0.95 0.7845 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102854 NA 0.26 0.741103 0.924421 NA 0.855 NA 2.4173636 1410 6 147631201 147631201 A G intronic STXBP5 NA NA NA intronic ENSG00000164506 NA NA NA NA NA 6q24.3 NA NA NA NA rs6928919 0.44 0.44 0.427 0.455471 0.5229 0.2956 0.5389 0.4175 0.5429 0.53 0.3 0.5 0.42 0.5152 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790247 NA NA 0.545115 0.431216 NA 0.406 NA 2.416785 1410 1 235715556 235715556 C G intronic GNG4 NA NA NA intronic ENSG00000168243 NA NA NA NA NA 1q42.3 NA NA NA NA rs423026 0.61 0.61 0.583 0.623403 0.495 0.8383 0.6556 0.562 0.5941 0.51 0.81 0.59 0.55 0.58 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238864 NA NA 0.508721 0.575125 NA 0.71 NA 2.416279 1410 12 56082785 56082785 C G intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs3782240 0.58 0.58 0.515 0.590455 0.494 0.9296 0.6268 0.2716 0.7454 0.51 0.92 0.58 0.3 0.5854 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139178 NA NA 0.504419 0.300545 NA 0.522 NA 2.416181 1410 4 68919617 68919617 G A ncRNA_UTR3 TMPRSS11F NA NA NA ncRNA_UTR3 ENSG00000198092 NA NA NA NA NA 4q13.2 NA NA NA NA rs10018943 0.67 0.67 0.669 0.657947 0.7296 0.8651 0.5476 0.4334 0.7526 0.74 0.87 0.6 0.39 0.7292 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00942 NA NA 0.79186 0.532683 NA 0.71 NA 2.4160066 1410 6 36075219 36075219 A C intronic MAPK14 NA NA NA intronic ENSG00000112062 NA NA NA NA NA 6p21.31 NA NA NA NA rs9470219 0.37 0.37 0.374 0.397364 0.5616 0.2579 0.4179 0.1846 0.6452 0.54 0.26 0.44 0.18 0.4838 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.120317 NA NA 0.538605 0.255107 ID=COSN167754;OCCURENCE=1(large_intestine) 0.326 NA 2.415995 1410 20 40743829 40743829 A G intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs2076248 0.57 0.57 0.544 0.55651 0.5278 0.5258 0.5634 0.6241 0.5215 0.51 0.57 0.57 0.66 0.5308 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915984 NA NA 0.525409 0.646475 NA 0.522 NA 2.415991 1410 19 45493635 45493635 C G intronic CLPTM1 NA NA NA intronic ENSG00000104853 NA NA NA NA NA 19q13.32 NA NA NA NA rs875255 0.43 0.43 0.435 0.423922 0.5447 0.371 0.3098 0.4221 0.4376 0.53 0.35 0.36 0.4 0.4917 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937327 NA NA 0.547791 0.443713 NA 0.435 NA 2.415809 1410 2 169814655 169814655 G T intronic ABCB11 NA NA NA intronic ENSG00000073734 NA NA NA NA NA 2q31.1 NA NA NA NA rs853772 0.48 0.48 0.442 0.497604 0.5109 0.6597 0.5115 0.2307 0.6677 0.5 0.64 0.51 0.22 0.5399 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555321 NA NA 0.533479 0.269537 NA 0.312 NA 2.415721 1410 2 241440020 241440020 T C intronic ANKMY1 NA NA NA intronic ENSG00000144504 NA NA NA NA NA 2q37.3 NA NA NA NA rs12986801 0.56 0.56 0.534 0.554912 0.5268 0.7808 0.5115 0.3238 0.6943 0.56 0.79 0.51 0.33 0.5586 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221397 NA NA 0.49907 0.364049 NA 0.609 NA 2.41553 1410 11 49000522 49000522 C T intergenic OR4A47,TRIM49B dist=489248;dist=52630 NA NA ncRNA_exonic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs1963629 0.77 0.77 0.77 0.708466 0.8201 0.5972 0.7622 0.8101 0.5327 0.82 0.65 0.8 0.81 0.7644 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024394 NA 0.26 NA NA NA 0.674 NA 2.4155 1411 11 49000423 49000423 C G intergenic OR4A47,TRIM49B dist=489149;dist=52729 NA NA ncRNA_splicing ENSG00000220948 ENST00000534741:exon4:c.738+1G>C NA NA NA NA 11p11.12 NA NA NA NA rs1965370 0.8 0.8 0.768 0.708466 0.8201 0.5972 0.7622 0.8101 0.5327 0.85 0.69 0.81 0.82 0.765 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52199 NA NA NA NA NA 0.768 NA 2.4149 1411 2 241555784 241555784 G T intronic GPR35 NA NA NA intronic ENSG00000142330,ENSG00000178623 NA NA NA NA NA 2q37.3 NA NA NA NA rs12052926 0.52 0.52 0.487 0.495208 0.5179 0.6587 0.5144 0.3003 0.5532 0.51 0.65 0.57 0.33 0.5295 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.617967 NA NA 0.538023 0.308216 NA 0.442 NA 2.414577 1411 12 51846090 51846090 G A intronic SLC4A8 NA NA NA intronic ENSG00000050438 NA NA NA NA NA 12q13.13 NA NA NA NA rs1995691 0.5 0.5 0.502 0.518171 0.5348 0.4534 0.4308 0.5605 0.5726 0.53 0.46 0.49 0.5 0.5238 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768836 NA NA 0.527558 0.573536 NA 0.594 NA 2.413842 1411 4 47905158 47905158 A G intronic NFXL1 NA NA NA intronic ENSG00000170448 NA NA NA NA NA 4p12 NA NA NA NA rs2119204 0.86 0.86 0.851 0.851438 0.7913 0.9831 0.866 0.823 0.8057 0.81 0.99 0.85 0.83 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996952 NA NA 0.796082 0.83847 NA 0.884 NA 2.412618 1411 12 51851126 51851126 G A intronic SLC4A8 NA NA NA intronic ENSG00000050438 NA NA NA NA NA 12q13.13 NA NA NA NA rs4512904 0.5 0.5 0.501 0.518171 0.5348 0.4534 0.4308 0.5605 0.5726 0.53 0.46 0.49 0.5 0.5259 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.338025 2.338025 NA 0.527674 0.573309 NA 0.594 NA 2.411626 1411 11 49053601 49053601 A G intronic TRIM49B NA NA NA intronic ENSG00000182053 NA NA NA NA NA 11p11.12 NA NA NA NA rs2696923 0.77 0.77 0.76 0.714657 0.8231 0.6022 0.7565 0.8502 0.5061 0.82 0.63 0.78 0.85 0.766 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947817 NA NA NA NA NA 0.196 NA 2.4109 1411 5 59899413 59899413 G A intronic DEPDC1B NA NA NA intronic ENSG00000035499 NA NA NA NA NA 5q12.1 NA NA NA NA rs11740327 0.48 0.48 0.458 0.411941 0.5378 0.5417 0.5764 0.2322 0.2751 0.54 0.57 0.56 0.24 0.5018 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.804263 NA NA 0.549535 0.266576 ID=COSN167479;OCCURENCE=1(large_intestine) 0.464 NA 2.410865 1411 3 150883600 150883600 C T intronic MED12L NA NA NA intronic ENSG00000144893 NA NA NA NA NA 3q25.1 NA NA NA NA rs2567322 0.34 0.34 0.283 0.330072 0.5388 0.2212 0.4582 0.0545 0.5092 0.55 0.21 0.48 0.09 0.4918 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000825 NA NA 0.558605 0.135043 NA 0.442 NA 2.410795 1411 20 31644520 31644520 T C intronic BPIFB3 NA NA NA intronic ENSG00000186190 NA NA NA NA NA 20q11.21 NA NA NA NA rs408538 0.65 0.65 0.654 0.65655 0.5209 0.7798 0.5591 0.7799 0.5716 0.53 0.77 0.54 0.8 0.5488 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096069 NA NA 0.520116 0.71902 NA 0.638 NA 2.410184 1411 19 59010593 59010593 A G intronic SLC27A5 NA NA NA UTR5 ENSG00000083807 ENST00000595851:c.-331T>C,ENST00000594786:c.-331T>C NA NA NA NA 19q13.43 NA Name=Max,TAF1,E2F6_(H-50),E2F6,USF1_(SC-8983),Pol2,HEY1,ZEB1_(SC-25388),c-Myc,Pol2-4H8,Sin3Ak-20,Egr-1 NA NA rs4801274 0.88 0.88 0.88 0.852436 0.9225 0.8929 0.8199 0.764 0.8814 0.92 0.91 0.87 0.79 0.8982 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.341158 1.341158 NA 0.935814 0.812301 NA 0.812 NA 2.4101527 1411 15 41816190 41816190 T G intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2297378 0.53 0.53 0.549 0.544129 0.5348 0.3621 0.585 0.677 0.5327 0.54 0.36 0.57 0.68 0.5397 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269583 NA NA 0.515698 0.647526 ID=COSN164916;OCCURENCE=1(breast) 0.507 NA 2.409802 1411 1 65858088 65858088 T C intronic DNAJC6 NA NA NA intronic ENSG00000116675 NA NA NA NA NA 1p31.3 NA NA NA NA rs6588144 0.4 0.4 0.389 0.415935 0.5497 0.2054 0.4568 0.3767 0.5194 0.54 0.19 0.48 0.37 0.486 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472531 NA NA 0.554651 0.405583 NA 0.428 NA 2.409649 1411 4 124323738 124323738 T C UTR3 SPRY1 NM_001258038:c.*32T>C,NM_199327:c.*32T>C,NM_001258039:c.*32T>C,NM_005841:c.*32T>C NA NA UTR3 ENSG00000164056 ENST00000339241:c.*32T>C,ENST00000394339:c.*32T>C NA NA NA NA 4q28.1 NA NA NA NA rs300574 0.46 0.46 0.425 0.41873 0.668 0.4147 0.4784 0.2179 0.3957 0.68 0.39 0.5 0.19 0.5786 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763082 NA NA 0.677775 0.319914 NA 0.391 NA 2.4089584 1411 15 41817367 41817367 A G intronic RPAP1 NA NA NA intronic ENSG00000103932 NA NA NA NA NA 15q15.1 NA NA NA NA rs2274858 0.53 0.53 0.536 0.540735 0.5308 0.3601 0.5836 0.6906 0.5041 0.54 0.35 0.57 0.7 0.5449 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846066 NA NA 0.515465 0.662733 NA 0.493 NA 2.408835 1411 11 2356603 2356603 T C intergenic TSPAN32,CD81 dist=17173;dist=41944 NA NA ncRNA_exonic ENSG00000236264 NA NA NA NA NA 11p15.5 NA NA NA NA rs2651795 0.63 0.63 0.67 0.687101 0.8211 0.4554 0.768 0.6437 0.7894 0.78 0.38 0.75 0.59 0.7704 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845306 NA NA NA NA NA 0.783 NA 2.4085 1411 10 26356037 26356037 C T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3824696 0.4 0.4 0.375 0.397165 0.5616 0.2956 0.353 0.3124 0.4785 0.57 0.29 0.34 0.3 0.4847 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017862 NA NA 0.545476 0.361552 NA 0.435 NA 2.408224 1411 22 31521850 31521850 A C intronic INPP5J NA NA NA exonic ENSG00000185133 NA synonymous SNV ENSG00000185133:ENST00000331075:exon2:c.A1125C:p.T375T,ENSG00000185133:ENST00000400294:exon3:c.A24C:p.T8T,ENSG00000185133:ENST00000412277:exon3:c.A924C:p.T308T,ENSG00000185133:ENST00000405300:exon4:c.A24C:p.T8T NA NA 22q12.2 NA NA NA NA rs2240431 0.73 0.73 0.692 0.752596 0.828 0.5992 0.8631 0.621 0.9325 0.83 0.63 0.83 0.64 0.7993 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.197611 NA NA 0.798324 0.666497 ID=COSM444884;OCCURENCE=1(breast) 0.761 NA 2.4077093 1412 12 123001737 123001737 G A intronic RSRC2 NA NA NA intronic ENSG00000111011 NA NA NA NA NA 12q24.31 NA NA NA NA rs57311174 0.43 0.43 0.423 0.426518 0.5427 0.4355 0.4496 0.2436 0.5286 0.56 0.4 0.41 0.26 0.5108 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417307 NA NA 0.541977 0.311394 ID=COSN164393;OCCURENCE=1(breast) 0.449 NA 2.404523 1412 1 235647631 235647631 G T intronic B3GALNT2 NA NA NA intronic ENSG00000162885 NA NA NA NA NA 1q42.3 NA NA NA NA rs291387 0.65 0.65 0.635 0.678315 0.5129 0.8403 0.7104 0.5893 0.7791 0.52 0.85 0.71 0.6 0.5847 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442124 NA NA 0.498488 0.564685 NA 0.667 NA 2.403912 1412 10 26359180 26359180 T G intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3758441 0.4 0.4 0.402 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.57 0.29 0.34 0.3 0.4852 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.375222 NA NA 0.549337 0.367847 NA 0.457 NA 2.403863 1412 10 26355862 26355862 G T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3824702 0.4 0.4 0.4 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.57 0.29 0.34 0.3 0.4856 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803517 NA NA 0.549767 0.367907 NA 0.457 NA 2.403033 1412 10 26355872 26355872 A G intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3824701 0.4 0.4 0.4 0.396565 0.5616 0.2956 0.3516 0.3124 0.4765 0.57 0.29 0.34 0.3 0.4855 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563672 NA NA 0.55 0.36768 NA 0.457 NA 2.4029 1412 5 149000039 149000039 C T intronic ARHGEF37 NA NA NA intronic ENSG00000183111 NA NA NA NA NA 5q32 NA NA NA NA rs7733761 0.6 0.6 0.596 0.629393 0.4911 0.8323 0.6369 0.5098 0.7188 0.5 0.85 0.6 0.46 0.5908 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006828 NA NA 0.515336 0.535542 NA 0.457 NA 2.402764 1412 19 10883126 10883126 C G intronic DNM2 NA NA NA intronic ENSG00000079805 NA NA NA NA NA 19p13.2 NA NA NA NA rs3826803 0.51 0.51 0.49 0.557109 0.503 0.4613 0.6369 0.6135 0.5787 0.48 0.4 0.62 0.58 0.5528 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605553 NA NA 0.541512 0.614843 NA 0.543 NA 2.402688 1412 3 58355273 58355273 G C intronic PXK NA NA NA intronic ENSG00000168297 NA NA NA NA NA 3p14.3 NA NA NA NA rs9867320 0.78 0.78 0.785 0.772165 0.8082 0.8075 0.732 0.7156 0.8037 0.78 0.81 0.77 0.75 NA 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.102236 NA NA 0.790252 0.71315 NA 0.79 NA 2.401548 1412 12 20893354 20893354 G C intronic SLCO1C1 NA NA NA intronic ENSG00000139155 NA NA NA NA NA 12p12.2 NA NA NA NA rs12368368 0.45 0.45 0.398 0.442093 0.5089 0.5873 0.5793 0.0552 0.6493 0.52 0.62 0.55 0.08 0.5374 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284952 NA NA 0.552404 0.154861 NA 0.457 NA 2.401296 1412 15 40500986 40500986 C T intronic BUB1B NA NA NA intronic ENSG00000156970 NA NA NA NA NA 15q15.1 NA NA NA NA rs11630664 0.4 0.4 0.414 0.396965 0.5606 0.2827 0.4683 0.2481 0.4969 0.55 0.29 0.46 0.26 0.4916 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025277 NA NA 0.546628 0.310713 NA 0.464 NA 2.401172 1412 12 20893108 20893108 C T intronic SLCO1C1 NA NA NA intronic ENSG00000139155 NA NA NA NA NA 12p12.2 NA NA NA NA rs2271656 0.45 0.45 0.395 0.442292 0.5089 0.5873 0.5836 0.0537 0.6493 0.52 0.62 0.55 0.08 0.5374 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341897 NA NA 0.552907 0.148434 NA 0.471 NA 2.400793 1412 9 116997994 116997994 T C intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs2015408 0.75 0.75 0.728 0.800919 0.7903 0.4861 0.781 0.9856 0.9008 0.78 0.47 0.8 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.064938 2.064938 NA 0.809868 0.949422 NA 0.775 NA 2.399832 1412 10 97137105 97137105 A G intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA NA NA 10q24.1 NA NA NA NA rs1536556 0.44 0.44 0.436 0.458866 0.5358 0.244 0.6354 0.4236 0.5235 0.52 0.25 0.62 0.41 0.53 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093402 NA NA 0.534656 0.434361 NA 0.413 NA 2.399544 1412 5 179998454 179998454 C T intronic CNOT6 NA NA NA intronic ENSG00000113300 NA NA NA NA NA 5q35.3 NA NA NA NA rs13164597 0.38 0.38 0.365 0.364816 0.5487 0.2143 0.3833 0.2897 0.4192 0.54 0.2 0.43 0.32 0.4818 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70939 NA NA 0.570581 0.323196 NA 0.428 NA 2.398919 1412 6 44081987 44081987 T C intronic MRPL14 NA NA NA intronic ENSG00000180992 NA NA NA NA NA 6p21.1 NA NA NA NA rs4711767 0.69 0.69 0.675 0.689896 0.499 0.8194 0.7205 0.8495 0.5153 0.49 0.81 0.68 0.85 0.5944 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520881 NA NA 0.508049 0.796591 NA 0.609 NA 2.398551 1412 6 35425416 35425416 A G intronic FANCE NA NA NA intronic ENSG00000112039 NA NA NA NA NA 6p21.31 NA NA NA NA rs13214239 0.41 0.41 0.368 0.359625 0.5606 0.3393 0.5634 0.053 0.4438 0.58 0.38 0.6 0.07 0.4966 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332555 NA NA 0.544767 0.152973 NA 0.326 NA 2.398033 1412 1 22183739 22183739 A G intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs2305562 0.49 0.49 0.499 0.446885 0.5447 0.4653 0.4553 0.3964 0.3896 0.55 0.51 0.45 0.39 0.5031 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324826 1.324826 NA 0.554884 0.417839 NA 0.384 NA 2.397316 1412 8 1791638 1791638 T G intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA NA NA rs11136432 0.43 0.43 0.39 0.392772 0.5527 0.4187 0.4092 0.1974 0.454 0.56 0.46 0.46 0.19 0.489 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.142063 NA NA 0.56186 0.243526 NA 0.239 NA 2.39644 1412 7 148312382 148312382 T G intronic C7orf33 NA NA NA intronic ENSG00000170279 NA NA NA NA NA 7q36.1 NA NA NA NA rs6962115 0.59 0.59 0.576 0.609625 0.5199 0.5813 0.5965 0.6611 0.6708 0.54 0.59 0.59 0.65 0.5665 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111282 NA NA 0.517558 0.652292 NA 0.551 NA 2.396042 1413 8 23702587 23702587 C T intronic STC1 NA NA NA intronic ENSG00000159167 NA NA NA NA NA 8p21.2 NA NA NA NA rs1992053 0.59 0.59 0.597 0.623003 0.5169 0.5437 0.6614 0.6309 0.7761 0.53 0.57 0.69 0.65 0.5736 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25211 NA NA 0.514535 0.625284 NA 0.572 NA 2.394965 1413 12 105433607 105433607 G A intronic ALDH1L2 NA NA NA intronic ENSG00000136010 NA NA NA NA NA 12q23.3 NA NA NA NA rs4964318 0.63 0.63 0.639 0.656749 0.5189 0.7619 0.4899 0.7519 0.68 0.5 0.8 0.47 0.77 0.5709 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883891 NA NA 0.516047 0.720608 NA 0.659 NA 2.394153 1413 11 10518521 10518521 C T intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs2071016 0.5 0.5 0.503 0.479233 0.5308 0.6935 0.3646 0.3018 0.5266 0.58 0.65 0.38 0.3 0.5232 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115663 NA NA 0.552864 0.34507 NA 0.391 NA 2.393136 1413 19 56918560 56918560 T A intronic ZNF583 NA NA NA intronic ENSG00000198440 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801159 0.88 0.88 0.875 0.887181 0.8032 0.9494 0.8689 0.9448 0.8446 0.8 0.94 0.85 0.95 NA 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455672 NA NA 0.803897 0.916185 NA 0.884 NA 2.392903 1413 12 48238837 48238837 C A intronic VDR NA NA NA intronic ENSG00000111424 NA NA NA NA NA 12q13.11 NA NA NA NA rs7975232 0.5 0.5 0.521 0.515375 0.5547 0.2907 0.4409 0.6407 0.59 0.55 0.29 0.47 0.67 0.5187 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450359 NA NA 0.533961 0.61734 NA 0.529 NA 2.392639 1413 21 34128717 34128717 G A intronic PAXBP1 NA NA NA intronic ENSG00000159086 NA NA NA NA NA 21q22.11 NA NA NA NA rs7279405 0.6 0.6 0.624 0.642572 0.5408 0.4792 0.4625 0.9607 0.6135 0.53 0.47 0.47 0.94 0.5474 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.680211 2.680211 NA 0.519884 0.879936 NA 0.645 NA 2.391916 1413 1 92852504 92852504 A G intronic RPAP2 NA NA NA intronic ENSG00000122484 NA NA NA NA NA 1p22.1 NA NA NA NA rs10747411 0.9 0.9 0.91 0.93151 0.8062 0.998 0.8876 0.9766 0.9622 0.81 1 0.86 0.97 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96533 NA NA 0.802326 0.955202 NA 0.877 NA 2.391474 1413 4 177093505 177093505 T G intronic WDR17 NA NA NA intronic ENSG00000150627 NA NA NA NA NA 4q34.2 NA NA NA NA rs4538426 0.48 0.48 0.451 0.46246 0.5427 0.3869 0.6239 0.3676 0.4714 0.53 0.39 0.61 0.39 0.5138 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898274 NA NA 0.55235 0.36473 NA 0.391 NA 2.39115 1413 17 40720605 40720605 G A intronic MLX NA NA NA intronic ENSG00000108788 NA NA NA NA NA 17q21.2 NA NA NA NA rs646174 0.49 0.49 0.485 0.523562 0.5229 0.4534 0.4928 0.4864 0.6687 0.53 0.45 0.44 0.51 0.5439 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.37222 NA NA 0.542326 0.491602 NA 0.616 NA 2.390874 1413 19 1507535 1507535 T C intronic ADAMTSL5 NA NA NA intronic ENSG00000185761 NA NA NA NA NA 19p13.3 NA NA NA NA rs791461 0.53 0.53 0.565 0.534944 0.5586 0.3879 0.4078 0.7171 0.5061 0.55 0.41 0.41 0.72 0.5106 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048154 NA NA 0.540126 0.684294 NA 0.623 NA 2.390674 1413 7 64152353 64152353 A G intronic ZNF107 NA NA NA intronic ENSG00000196247 NA NA NA NA NA 7q11.21 NA NA NA NA rs4718101 0.55 0.55 0.529 0.549321 0.5328 0.6825 0.5749 0.4274 0.5757 0.52 0.67 0.56 0.44 0.5472 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615529 NA NA 0.529884 0.472764 NA 0.457 NA 2.390116 1413 7 114210814 114210814 T C intronic FOXP2 NA NA NA intronic ENSG00000128573 NA NA NA NA NA 7q31.1 NA NA NA NA rs17137124 0.53 0.53 0.505 0.51857 0.5308 0.747 0.5663 0.2511 0.5982 0.54 0.74 0.54 0.26 0.5544 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497716 NA NA 0.525141 0.311258 NA 0.442 NA 2.389659 1413 2 141533662 141533662 T C intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA Score=588;Name=lod=328 NA 2q22.1 NA NA NA NA rs996361 0.89 0.89 0.874 0.855232 0.8658 0.999 0.8977 0.7458 0.8139 0.87 1 0.89 0.8 0.8732 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.778207 1.778207 NA 0.871512 0.773718 NA 0.87 NA 2.389488 1413 19 54782420 54782420 G A intronic LILRB2 NA NA NA intronic ENSG00000131042 NA NA NA NA NA 19q13.42 NA NA NA NA rs11666104 0.37 0.37 0.326 0.332668 0.5736 0.0863 0.3847 0.2708 0.3855 0.58 0.04 0.41 0.38 0.4655 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240589 NA NA 0.571628 0.381897 NA 0.413 NA 2.389272 1413 19 39328145 39328145 A C intronic HNRNPL NA NA NA intronic ENSG00000104824,ENSG00000268083 NA NA NA NA NA 19q13.2 NA NA NA NA rs2278010 0.38 0.38 0.343 0.338458 0.5924 0.2351 0.4179 0.1104 0.4356 0.6 0.29 0.43 0.12 0.466 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610097 NA NA 0.552442 0.17635 NA 0.391 NA 2.389158 1413 17 4535385 4535385 A G intronic ALOX15 NA NA NA intronic ENSG00000161905 NA NA NA NA NA 17p13.2 NA NA NA NA rs2619112 0.55 0.55 0.549 0.552316 0.5557 0.5625 0.5346 0.5651 0.5337 0.55 0.57 0.54 0.55 0.5339 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664704 NA NA 0.521628 0.565592 NA 0.623 NA 2.388772 1413 7 99514417 99514417 A C intronic TRIM4 NA NA NA intronic ENSG00000146833 NA NA NA NA NA 7q22.1 NA NA NA NA rs2571997 0.55 0.55 0.553 0.578474 0.5338 0.2976 0.4597 0.9039 0.5583 0.55 0.28 0.5 0.89 0.5653 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723842 NA NA 0.512326 0.816614 NA 0.609 NA 2.388574 1413 2 112705185 112705185 G T intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA NA NA NA rs3761700 0.44 0.44 0.404 0.492013 0.5447 0.2758 0.5461 0.5166 0.589 0.54 0.22 0.52 0.49 0.5227 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070089 NA NA 0.544333 0.508409 NA 0.486 NA 2.388267 1413 5 180055862 180055862 T G intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs383985 0.73 0.73 0.543 0.648363 0.5765 0.8224 0.7075 0.5499 0.6339 0.66 0.93 0.71 0.63 0.6016 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937968 NA NA 0.433885 0.374258 NA 0.152 NA 2.388015 1413 19 6452305 6452305 A G intronic SLC25A23 NA NA NA intronic ENSG00000125648 NA NA NA NA NA 19p13.3 NA NA NA NA rs173229 0.49 0.49 0.491 0.52496 0.5 0.3016 0.3329 0.7874 0.5624 0.5 0.32 0.35 0.79 0.5733 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.541802 1.541802 NA 0.538873 0.761699 NA 0.609 NA 2.387827 1413 16 12009781 12009781 G A UTR5 GSPT1 NM_002094:c.-204C>T,NM_001130006:c.-204C>T NA NA intronic ENSG00000103342 NA NA NA NA NA 16p13.13 NA Name=GATA-1,TAF1,E2F6_(H-50),E2F6,Pol2,Mxi1_(bHLH),NRSF,Pol2(phosphoS2),TCF4,Max,GR,CHD2_(N-1250),Pol2(b),Sin3Ak-20,ZNF263,Pol2-4H8,ZBTB7A_(SC-34508),CCNT2,c-Myc,HEY1,NFKB,TBP,IRF1 NA NA rs434762 0.88 0.88 0.868 0.849641 0.9254 0.9514 0.8689 0.7685 0.7628 0.92 0.93 0.9 0.74 0.908 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160569 NA NA 0.945477 0.801941 NA 0.471 NA 2.3877897 1413 4 78870940 78870940 T A intronic MRPL1 NA NA NA intronic ENSG00000169288 NA NA NA NA NA 4q21.1 NA NA NA NA rs4859513 0.45 0.45 0.419 0.417532 0.5626 0.3333 0.5821 0.3026 0.3937 0.55 0.36 0.58 0.29 0.4938 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572256 NA NA 0.556163 0.320018 NA 0.478 NA 2.387437 1413 20 3002889 3002889 A C intronic PTPRA NA NA NA intronic ENSG00000132670 NA NA NA NA NA 20p13 NA NA NA NA rs544090 0.75 0.75 0.735 0.771366 0.507 0.8978 0.7363 0.9236 0.7321 0.52 0.92 0.73 0.91 0.6175 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.210856 NA NA 0.48814 0.843622 NA 0.732 NA 2.38736 1413 17 40735469 40735469 T G intronic FAM134C NA NA NA intronic ENSG00000141699 NA NA NA NA NA 17q21.2 NA NA NA NA rs1517002 0.5 0.5 0.495 0.530351 0.5239 0.4692 0.4928 0.4985 0.6697 0.53 0.47 0.44 0.53 0.5477 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847289 NA NA 0.542674 0.507036 NA 0.616 NA 2.385726 1414 8 39022522 39022522 G A intronic ADAM32 NA NA NA intronic ENSG00000197140 NA NA NA NA NA 8p11.22 NA NA NA NA rs10088854 0.51 0.51 0.479 0.526358 0.5328 0.7004 0.5591 0.2239 0.726 0.54 0.71 0.52 0.22 0.5489 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958036 NA NA 0.534172 0.267937 NA 0.543 NA 2.384128 1414 16 58703966 58703966 A G intronic SLC38A7 NA NA NA intronic ENSG00000103042 NA NA NA NA NA 16q21 NA NA NA NA rs9923128 0.65 0.65 0.687 0.667931 0.5408 0.7292 0.4784 0.8812 0.5818 0.56 0.7 0.47 0.87 0.5674 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93952 NA NA 0.507791 0.826888 NA 0.565 NA 2.384009 1414 7 4259953 4259953 G T intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs13224192 0.48 0.48 0.503 0.488618 0.5755 0.247 0.3545 0.6823 0.4816 0.59 0.24 0.37 0.67 0.5148 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.095239 NA NA 0.525698 0.623922 NA 0.514 NA 2.384002 1414 17 38153554 38153554 G C intronic PSMD3 NA NA NA intronic ENSG00000108344 NA NA NA NA NA 17q21.1 NA NA NA NA rs2241244 0.55 0.55 0.568 0.550519 0.5358 0.4335 0.5793 0.674 0.499 0.53 0.41 0.6 0.69 0.5447 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875065 NA NA 0.536744 0.631639 NA 0.645 NA 2.382756 1414 1 1922303 1922303 C T intronic KIAA1751 NA NA NA intronic ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs13303195 0.63 0.63 0.679 0.649561 0.497 0.6032 0.4568 0.9281 0.6145 0.5 0.63 0.51 0.93 0.5785 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731952 NA NA 0.542173 0.862207 NA 0.688 NA 2.382327 1414 15 62223273 62223273 C T intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs9788670 0.55 0.55 0.524 0.550719 0.5308 0.5248 0.6585 0.5401 0.5358 0.53 0.54 0.63 0.53 0.5574 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.036856 2.036856 NA 0.529535 0.549024 NA 0.493 NA 2.382265 1414 17 38145088 38145088 C G intronic PSMD3 NA NA NA intronic ENSG00000108344 NA NA NA NA NA 17q21.1 NA NA NA NA rs9915252 0.55 0.55 0.57 0.550919 0.5358 0.4315 0.5807 0.674 0.502 0.53 0.41 0.6 0.69 0.5455 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651448 NA NA 0.537558 0.631639 NA 0.645 NA 2.381142 1414 3 49753003 49753003 T G intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA rs34614773 0.6 0.6 0.548 0.584864 0.5249 0.8304 0.6455 0.3714 0.6391 0.54 0.82 0.66 0.42 0.5807 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.329621 2.329621 NA 0.514884 0.410803 NA 0.609 NA 2.379516 1414 3 49720393 49720393 C G intronic APEH NA NA NA intronic ENSG00000164062 NA NA NA NA NA 3p21.31 NA NA NA NA rs2960548 0.61 0.61 0.574 0.638978 0.5099 0.9276 0.6816 0.4032 0.7628 0.51 0.93 0.63 0.38 0.5944 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444536 NA NA 0.516395 0.431684 NA 0.522 NA 2.379305 1414 3 49736565 49736565 G A intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA rs6785549 0.6 0.6 0.55 0.584665 0.5249 0.8323 0.6455 0.3684 0.6401 0.54 0.83 0.66 0.41 0.5825 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.118798 5.118798 NA 0.513495 0.407853 NA 0.638 NA 2.379105 1414 15 42138321 42138321 A G intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1197670 0.77 0.77 0.73 0.757388 0.8181 0.8879 0.8213 0.5613 0.7802 0.82 0.88 0.81 0.52 0.8032 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890757 NA NA NA NA NA 0.674 NA 2.3787 1414 12 122993011 122993011 C T intronic RSRC2 NA NA NA intronic ENSG00000111011 NA NA NA NA NA 12q24.31 NA NA NA NA rs10773230 0.43 0.43 0.416 0.427915 0.5427 0.4365 0.4496 0.2428 0.5358 0.56 0.4 0.41 0.26 0.538 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.529203 NA NA 0.541047 0.310032 NA 0.449 NA 2.378253 1414 17 28778720 28778720 G C intronic CPD NA NA NA intronic ENSG00000108582 NA NA NA NA NA 17q11.2 NA NA NA NA rs2253256 0.67 0.67 0.697 0.68131 0.5169 0.8224 0.5317 0.8616 0.5675 0.53 0.79 0.51 0.85 0.5848 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048185 NA NA 0.520116 0.805719 NA 0.783 NA 2.378184 1414 9 139396408 139396408 A G intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs3124594 0.73 0.73 0.718 0.741613 0.5328 0.9226 0.6167 0.9145 0.6247 0.53 0.89 0.64 0.92 0.592 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.038858 NA NA 0.497214 0.854113 NA 0.732 NA 2.377986 1414 5 149515074 149515074 G A intronic PDGFRB NA NA NA intronic ENSG00000113721 NA NA NA NA NA 5q32 NA NA NA NA rs740750 0.46 0.46 0.415 0.459864 0.5646 0.4306 0.5749 0.261 0.5695 0.56 0.4 0.55 0.3 0.5264 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529756 NA NA 0.531628 0.318429 NA 0.341 NA 2.377372 1414 7 130140766 130140766 C A intronic MEST NA NA NA intronic ENSG00000106484 NA NA NA NA NA 7q32.2 NA NA NA NA rs765205 0.49 0.49 0.453 0.448482 0.5497 0.6121 0.536 0.1573 0.5072 0.54 0.63 0.53 0.21 0.524 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585649 NA NA 0.54907 0.227644 NA 0.449 NA 2.37723 1414 6 30571471 30571471 T C intronic PPP1R10 NA NA NA intronic ENSG00000204569 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264423 0.59 0.59 0.621 0.667732 0.5179 0.5853 0.4928 0.8268 0.816 0.51 0.57 0.5 0.8 0.5775 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794873 NA NA 0.529083 0.78552 NA 0.688 NA 2.375517 1415 17 3336162 3336162 T C downstream OR1E2 NA NA NA downstream ENSG00000127780 NA NA NA NA NA 17p13.2 NA NA NA NA rs11867612 0.22 0.22 0.185 0.17512 0.4553 0.002 0.2464 0.0643 0.1646 0.45 0.0035 0.27 0.07 0.3512 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.100871 NA NA 0.485222 0.138573 NA 0.123 NA 2.3749446 1415 1 68943442 68943442 A G intronic DEPDC1 NA NA NA intronic ENSG00000024526 NA NA NA NA NA 1p31.2 NA NA NA NA rs3790476 0.37 0.37 0.385 0.357628 0.5845 0.1329 0.379 0.3623 0.3344 0.56 0.13 0.42 0.34 0.4561 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.359474 1.359474 NA 0.585047 0.392466 NA 0.312 NA 2.374353 1415 3 48415007 48415007 C G intronic FBXW12 NA NA NA intronic ENSG00000164049 NA NA NA NA NA 3p21.31 NA NA NA NA rs4858793 0.58 0.58 0.548 0.569489 0.5268 0.6587 0.6037 0.4274 0.6892 0.54 0.67 0.6 0.5 0.5745 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254706 NA NA 0.524767 0.456877 NA 0.493 NA 2.373933 1415 14 69799892 69799892 A G intronic GALNT16 NA NA NA intronic ENSG00000100626 NA NA NA NA NA 14q24.1 NA NA NA NA rs1275677 0.51 0.51 0.476 0.508387 0.5368 0.3621 0.4726 0.705 0.3896 0.51 0.35 0.48 0.71 0.5284 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151087 NA NA 0.561163 0.656832 ID=COSM147803;OCCURENCE=1(stomach) 0.514 NA 2.373637 1415 8 143561206 143561206 G A intronic BAI1 NA NA NA intronic ENSG00000181790 NA NA NA NA NA 8q24.3 NA NA NA NA rs4509377 0.72 0.72 0.733 0.743211 0.8151 0.7054 0.6916 0.6536 0.8661 0.83 0.68 0.72 0.62 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309233 NA NA 0.811523 0.708199 NA 0.681 NA 2.373377 1415 19 55019402 55019402 A G intronic LAIR2 NA NA NA intronic ENSG00000167618 NA NA NA NA NA 19q13.42 NA NA NA NA rs2277974 0.63 0.63 0.566 0.623602 0.5427 0.7391 0.5836 0.6876 0.5297 0.52 0.75 0.62 0.65 0.5518 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699181 NA NA 0.532326 0.665456 NA 0.601 NA 2.373174 1415 16 56442066 56442066 C T intronic AMFR NA NA NA intronic ENSG00000159461 NA NA NA NA NA 16q12.2 NA NA NA NA rs4238787 0.58 0.58 0.623 0.622204 0.5268 0.4454 0.5231 0.8767 0.6288 0.53 0.47 0.52 0.84 0.573 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808568 NA NA 0.527093 0.811419 NA 0.71 NA 2.373107 1415 19 55019438 55019438 A G intronic LAIR2 NA NA NA intronic ENSG00000167618 NA NA NA NA NA 19q13.42 NA NA NA NA rs2277973 0.62 0.62 0.545 0.63139 0.5427 0.7401 0.5836 0.6876 0.5685 0.51 0.74 0.61 0.65 0.5542 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078224 NA NA 0.530007 0.672719 NA 0.319 NA 2.373093 1415 2 43902511 43902511 G C UTR3 LOC728819 NM_001101330:c.*3C>G NA NA ncRNA_exonic ENSG00000223658 NA NA NA NA NA 2p21 NA NA NA NA rs755862 0.55 0.55 0.555 0.552716 0.7177 0.1875 0.5432 0.6536 0.6299 0.72 0.19 0.61 0.67 0.6884 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.517982 NA NA 0.720834 0.674603 ID=COSN166079;OCCURENCE=1(NS) 0.551 NA 2.373066 1415 11 5631622 5631622 G T intronic TRIM6,TRIM6-TRIM34 NA NA NA ncRNA_intronic ENSG00000239920 NA NA NA NA NA 11p15.4 NA NA NA NA rs7125403 0.89 0.89 0.861 0.883786 0.994 1 0.9467 0.593 0.999 1 1 0.93 0.54 0.967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351191 NA NA NA NA NA 0.884 NA 2.3723333 1415 17 40721360 40721360 C A intronic MLX NA NA NA intronic ENSG00000108788 NA NA NA NA NA 17q21.2 NA NA NA NA rs632758 0.53 0.53 0.532 0.585463 0.5229 0.4534 0.5159 0.7088 0.6687 0.53 0.45 0.47 0.7 0.5622 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807147 NA NA 0.542907 0.684294 NA 0.667 NA 2.371993 1415 20 42310509 42310509 T C intronic MYBL2 NA NA NA intronic ENSG00000101057 NA NA NA NA NA 20q13.12 NA NA Name=2 NA rs442143 0.83 0.83 0.817 0.825679 0.9056 0.7966 0.8213 0.7867 0.8292 0.9 0.77 0.84 0.8 0.8496 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860377 NA NA 0.873372 0.815252 NA 0.826 NA 2.371428 1415 12 56088206 56088206 T C intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs7953669 0.67 0.67 0.628 0.703874 0.496 0.9365 0.6758 0.6679 0.7464 0.51 0.93 0.64 0.66 0.6212 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695386 NA NA 0.511395 0.667045 NA 0.609 NA 2.371405 1415 1 68943436 68943436 G A intronic DEPDC1 NA NA NA intronic ENSG00000024526 NA NA NA NA NA 1p31.2 NA NA NA NA rs1924542 0.38 0.38 0.39 0.371406 0.5845 0.1329 0.3847 0.4115 0.3344 0.56 0.13 0.43 0.38 0.4588 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.819711 NA NA 0.585751 0.421161 NA 0.341 NA 2.370949 1415 10 106907586 106907586 C G intronic SORCS3 NA NA NA intronic ENSG00000156395 NA NA NA NA NA 10q25.1 NA NA NA NA rs791126 0.49 0.49 0.484 0.489018 0.5467 0.3492 0.6268 0.4803 0.4877 0.54 0.32 0.64 0.52 0.5376 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175054 NA NA 0.545359 0.486836 NA 0.355 NA 2.370341 1415 2 169780366 169780366 T C intronic ABCB11 NA NA NA intronic ENSG00000073734 NA NA NA NA NA 2q31.1 NA NA NA NA rs579275 0.48 0.48 0.447 0.497404 0.5338 0.6419 0.5043 0.2239 0.6759 0.53 0.62 0.5 0.22 0.5509 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302985 NA NA 0.547089 0.265973 NA 0.348 NA 2.368211 1415 17 15961951 15961951 A G intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p12 NA NA NA NA rs2157991 0.44 0.44 0.432 0.432308 0.5646 0.2321 0.5058 0.4728 0.3957 0.57 0.21 0.51 0.45 0.5033 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.191057 NA NA 0.565 0.511807 NA 0.413 NA 2.3671 1415 22 38212762 38212762 A G UTR3 GCAT NM_014291:c.*37A>G NA NA UTR3 ENSG00000100116 ENST00000248924:c.*37A>G NA NA NA NA 22q13.1 NA NA NA NA rs13911 0.74 0.74 0.737 0.753794 0.6392 0.8472 0.6643 0.8457 0.7147 0.64 0.85 0.65 0.83 0.6849 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080325 NA NA 0.643622 0.822434 NA 0.732 NA 2.3656114 1415 3 183756780 183756780 A C UTR3 HTR3D NM_182537:c.*17A>C,NM_001145143:c.*17A>C,NM_001163646:c.*17A>C NA NA UTR3 ENSG00000186090 ENST00000334128:c.*17A>C,ENST00000382489:c.*17A>C,ENST00000453435:c.*17A>C NA NA NA NA 3q27.1 NA NA NA NA rs6765152 0.73 0.73 0.774 0.776358 0.667 0.9177 0.7147 0.8933 0.6288 0.61 0.88 0.65 0.78 0.674 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279415 NA NA 0.626977 0.840899 NA 0.768 NA 2.3653564 1416 19 33110149 33110149 T C intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs28615461 0.46 0.46 0.457 0.459265 0.5636 0.2867 0.3775 0.5129 0.5153 0.58 0.28 0.43 0.51 0.5069 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627052 NA NA 0.565349 0.520427 NA 0.536 NA 2.364151 1416 8 6299532 6299532 A G intronic MCPH1 NA NA NA intronic ENSG00000147316 NA NA NA NA NA 8p23.1 NA NA NA NA rs2053618 0.71 0.71 0.668 0.676917 0.8062 0.8036 0.8401 0.3215 0.7781 0.82 0.81 0.85 0.33 NA 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248245 NA NA 0.830295 0.407514 NA 0.652 NA 2.363505 1416 14 77755221 77755221 T G intronic POMT2 NA NA NA intronic ENSG00000009830 NA NA NA NA NA 14q24.3 NA NA NA NA rs2287387 0.49 0.49 0.51 0.476438 0.5855 0.4752 0.3242 0.4667 0.4867 0.6 0.47 0.36 0.45 0.5081 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.734681 NA NA 0.542907 0.480027 ID=COSN164743;OCCURENCE=1(breast) 0.587 NA 2.363493 1416 17 3856615 3856615 A G intronic ATP2A3 NA NA NA intronic ENSG00000074370 NA NA NA NA NA 17p13.2 NA NA NA NA rs1800915 0.56 0.56 0.566 0.54373 0.5308 0.4276 0.6556 0.7088 0.3742 0.54 0.43 0.63 0.68 0.5525 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047614 NA NA 0.554186 0.695415 NA 0.543 NA 2.362514 1416 3 124113929 124113929 A T intronic KALRN NA NA NA intronic ENSG00000160145 NA NA NA NA NA 3q21.2 NA NA NA NA rs482285 0.73 0.73 0.72 0.734026 0.8002 0.7698 0.7248 0.6044 0.8108 0.79 0.76 0.75 0.59 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.720304 3.720304 NA 0.837838 0.632948 NA 0.739 NA 2.361962 1416 13 114514918 114514918 T A downstream TMEM255B NA NA NA downstream ENSG00000184497 NA NA NA NA NA 13q34 NA NA NA NA rs34217684 0.48 0.48 0.317 0.664537 0.5348 0.8056 0.6297 0.6014 0.7628 0.42 0.6 0.48 0.43 0.4786 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00282 NA NA 0.291435 0.288872 NA 0.232 NA 2.3618316 1416 9 130155331 130155331 A G intronic GARNL3 NA NA NA intronic ENSG00000136895 NA NA NA NA NA 9q33.3 NA NA NA NA rs7864853 0.5 0.5 0.475 0.534744 0.5447 0.6111 0.3905 0.4251 0.6963 0.55 0.59 0.41 0.38 0.5455 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685438 NA NA 0.550581 0.459147 NA 0.609 NA 2.359219 1416 17 28407287 28407287 C T intronic EFCAB5 NA NA NA intronic ENSG00000176927 NA NA NA NA NA 17q11.2 NA NA NA NA rs11080114 0.55 0.55 0.581 0.570687 0.5656 0.2897 0.4669 0.9402 0.4397 0.55 0.29 0.48 0.92 0.5322 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159331 NA NA 0.543154 0.872156 NA 0.471 NA 2.359046 1416 11 117241760 117241760 T A intronic CEP164 NA NA NA intronic ENSG00000110274 NA NA NA NA NA 11q23.3 NA NA NA NA rs2305826 0.52 0.52 0.527 0.521166 0.5487 0.4345 0.4986 0.5772 0.5225 0.54 0.43 0.54 0.6 0.5285 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557273 NA NA 0.564013 0.577465 NA 0.587 NA 2.358787 1416 13 99127252 99127252 C G intronic STK24 NA NA NA intronic ENSG00000102572 NA NA NA NA NA 13q32.2 NA NA NA NA rs9513430 0.47 0.47 0.447 0.458866 0.5557 0.3105 0.4409 0.556 0.3937 0.55 0.28 0.48 0.56 0.5166 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.400049 NA NA 0.56907 0.552882 NA 0.464 NA 2.35863 1416 3 46963502 46963502 T C UTR3 CCDC12 NM_144716:c.*45A>G,NM_001277074:c.*45A>G NA NA UTR3 ENSG00000160799 ENST00000425441:c.*45A>G,ENST00000546280:c.*45A>G,ENST00000292314:c.*45A>G NA NA NA NA 3p21.31 NA NA NA NA rs4587 0.66 0.66 0.644 0.652157 0.666 0.4385 0.6571 0.8283 0.6166 0.68 0.47 0.66 0.85 0.6432 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801653 NA NA 0.666047 0.803677 NA 0.783 NA 2.3580864 1416 18 43698309 43698309 C T intronic HAUS1 NA NA NA intronic ENSG00000152240 NA NA NA NA NA 18q21.1 NA NA NA NA rs1866321 0.56 0.56 0.57 0.555112 0.5417 0.4563 0.4914 0.7231 0.4888 0.53 0.5 0.52 0.72 0.5444 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963239 NA NA 0.55593 0.714253 ID=COSN165652;OCCURENCE=1(breast) 0.703 NA 2.35797 1416 3 126219030 126219030 T C intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA NA NA NA rs13072404 0.53 0.53 0.533 0.533746 0.5477 0.5228 0.5029 0.4743 0.6329 0.55 0.56 0.51 0.47 0.5379 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741515 NA NA 0.556538 0.484113 NA 0.572 NA 2.357862 1416 6 44270936 44270936 C T intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA NA NA NA rs325001 0.46 0.46 0.419 0.430511 0.5527 0.4147 0.6066 0.2216 0.4785 0.55 0.44 0.62 0.21 0.5248 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879683 NA NA 0.565465 0.271221 NA 0.442 NA 2.357035 1416 19 4475606 4475606 T C intronic HDGFRP2 NA NA NA intronic ENSG00000167674 NA NA NA NA NA 19p13.3 NA NA NA NA rs3816048 0.54 0.54 0.538 0.526957 0.5398 0.3433 0.6066 0.7693 0.319 0.55 0.33 0.56 0.76 0.5407 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307947 NA NA 0.562649 0.748522 NA 0.623 NA 2.356851 1416 14 106236128 106236128 T A intergenic ELK2AP,KIAA0125 dist=96984;dist=147710 NA NA exonic ENSG00000211897 NA unknown UNKNOWN NA NA 14q32.33 NA NA NA NA rs12890621 0.24 0.24 0.194 0.264577 0.6342 0.0159 0.389 0.025 0.3763 0.52 0.01 0.35 0.02 0.5247 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.050634 NA 0.79 0.652318 0.117403 NA 0.225 NA 2.3554487 1416 5 172971 172971 G A intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA NA NA NA rs6868964 0.44 0.44 0.461 0.456869 0.5338 0.2768 0.4496 0.4932 0.5194 0.53 0.28 0.46 0.48 0.5219 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.812502 NA NA 0.588953 0.517476 NA 0.543 NA 2.355347 1416 20 36997632 36997632 T C intronic LBP NA NA NA intronic ENSG00000129988 NA NA NA NA NA 20q11.23 NA NA NA NA rs1780627 0.62 0.62 0.598 0.653355 0.5268 0.8383 0.5375 0.5893 0.7618 0.52 0.84 0.56 0.55 0.5739 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049578 NA NA 0.54407 0.570359 NA 0.616 NA 2.35523 1416 1 203740615 203740615 T C intronic LAX1 NA NA NA intronic ENSG00000122188 NA NA NA NA NA 1q32.1 NA NA NA NA rs3737976 0.4 0.4 0.37 0.370208 0.5984 0.1042 0.4582 0.3215 0.4131 0.61 0.09 0.53 0.34 0.499 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.058377 3.058377 NA 0.547558 0.328416 NA 0.428 NA 2.355042 1417 2 201397647 201397647 A C intronic SGOL2 NA NA NA intronic ENSG00000163535 NA NA NA NA NA 2q33.1 NA NA NA NA rs842939 0.69 0.69 0.674 0.700479 0.8241 0.5526 0.7219 0.6573 0.7689 0.82 0.55 0.74 0.61 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022753 NA NA 0.820944 0.663813 NA 0.616 NA 2.354956 1417 6 160202167 160202167 G A intronic TCP1 NA NA NA intronic ENSG00000120438 NA NA NA NA NA 6q25.3 NA NA NA NA rs2295899 0.39 0.39 0.363 0.391973 0.5437 0.1637 0.6081 0.2648 0.4898 0.55 0.15 0.59 0.27 0.528 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336811 NA NA 0.573605 0.300726 NA 0.348 NA 2.354695 1417 1 7527996 7527996 T C intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs1201529 0.49 0.49 0.517 0.464058 0.5746 0.2768 0.4035 0.652 0.3323 0.57 0.27 0.45 0.65 0.4988 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.600225 1.600225 NA 0.572209 0.673627 NA 0.623 NA 2.354391 1417 10 22826093 22826093 A C UTR3 PIP4K2A NM_005028:c.*37T>G NA NA UTR3 ENSG00000150867 ENST00000376573:c.*37T>G,ENST00000323883:c.*37T>G,ENST00000545335:c.*37T>G NA NA NA NA 10p12.2 NA NA NA NA rs1053454 0.7 0.7 0.686 0.748003 0.6382 0.6528 0.8084 0.8502 0.7781 0.62 0.63 0.81 0.83 0.7174 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828274 NA NA 0.623372 0.822969 NA 0.667 NA 2.3543614 1417 1 41475085 41475085 A G intronic CTPS1 NA NA NA intronic ENSG00000171793 NA NA NA NA NA 1p34.2 NA NA NA NA rs12144160 0.49 0.49 0.44 0.467851 0.5507 0.5675 0.6095 0.2141 0.5225 0.55 0.56 0.62 0.24 0.5378 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782781 NA NA 0.557442 0.276895 NA 0.543 NA 2.354058 1417 5 14290805 14290805 G A intronic TRIO NA NA NA intronic ENSG00000038382 NA NA NA NA NA 5p15.2 NA NA NA NA rs30629 0.48 0.48 0.454 0.410743 0.5795 0.5645 0.4524 0.1566 0.3926 0.61 0.58 0.48 0.16 0.5072 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11833 NA NA 0.560116 0.211076 NA 0.435 NA 2.353184 1417 8 67357690 67357690 G T intronic ADHFE1 NA NA NA intronic ENSG00000147576 NA NA NA NA NA 8q13.1 NA NA NA NA rs1025228 0.63 0.63 0.629 0.654752 0.5457 0.5942 0.7507 0.7602 0.6186 0.53 0.64 0.7 0.73 0.5846 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552695 NA NA 0.516628 0.733318 NA 0.543 NA 2.353072 1417 9 130982416 130982416 C T intronic DNM1 NA NA NA intronic ENSG00000106976 NA NA NA NA NA 9q34.11 NA NA NA NA rs3003606 0.48 0.48 0.416 0.463259 0.5666 0.6121 0.634 0.0817 0.5982 0.57 0.6 0.59 0.11 0.5363 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608858 NA NA 0.544302 0.155697 NA 0.464 NA 2.352798 1417 10 12292286 12292286 C G intronic CDC123 NA NA NA intronic ENSG00000151465 NA NA NA NA NA 10p13 NA NA NA NA rs12779647 0.53 0.53 0.489 0.500998 0.5497 0.498 0.5562 0.4221 0.5215 0.55 0.57 0.59 0.43 0.5421 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047628 NA NA 0.556163 0.441217 NA 0.5 NA 2.352037 1417 19 16024739 16024739 A G intronic CYP4F11 NA NA NA intronic ENSG00000171903 NA NA NA NA NA 19p13.12 NA NA NA NA rs2072269 0.47 0.47 0.441 0.427117 0.5537 0.2738 0.4625 0.4644 0.3793 0.56 0.3 0.48 0.5 0.5269 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031238 NA NA 0.567442 0.504312 NA 0.616 NA 2.351958 1417 17 43163851 43163851 T C intronic NMT1 NA NA NA intronic ENSG00000136448 NA NA NA NA NA 17q21.31 NA NA NA NA rs6503422 0.48 0.48 0.479 0.491014 0.5288 0.2034 0.5259 0.6566 0.5 0.53 0.2 0.52 0.68 0.5514 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96601 NA NA 0.568488 0.647753 NA 0.536 NA 2.351312 1417 6 44273546 44273546 A C intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA NA NA NA rs324137 0.47 0.47 0.44 0.447883 0.5537 0.4167 0.6124 0.2829 0.4775 0.55 0.44 0.63 0.27 0.5297 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726769 NA NA 0.565581 0.324103 NA 0.471 NA 2.351019 1417 10 124329672 124329672 T C intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740220 0.55 0.55 0.059 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.52 0.63 0.65 0.42 0.7159 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590563 NA NA 0.254431 0.201787 NA NA NA 2.350769 1417 1 24383819 24383819 T C UTR3 MYOM3 NM_152372:c.*35A>G NA NA ncRNA_UTR3 ENSG00000142661 NA NA NA NA NA 1p36.11 NA NA NA NA rs7540491 0.72 0.72 0.716 0.692492 0.7276 0.9514 0.5663 0.5303 0.6984 0.73 0.97 0.54 0.53 0.7056 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024531 NA NA 0.717587 0.596495 NA 0.652 NA 2.349213 1417 14 75367740 75367740 G A intronic DLST NA NA NA intronic ENSG00000119689 NA NA NA NA NA 14q24.3 NA NA NA NA rs1799900 0.62 0.62 0.621 0.666334 0.5308 0.4206 0.5749 0.9781 0.7025 0.53 0.46 0.59 0.96 0.5894 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039707 NA NA 0.530698 0.897867 NA 0.543 NA 2.349102 1417 3 183777919 183777919 G A intronic HTR3C NA NA NA intronic ENSG00000178084 NA NA NA NA NA 3q27.1 NA NA NA NA rs6807271 0.59 0.59 0.592 0.555711 0.5676 0.746 0.6715 0.4395 0.4223 0.56 0.75 0.64 0.43 0.5532 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.213509 2.213509 NA 0.530254 0.469119 NA 0.507 NA 2.348946 1417 10 119014931 119014931 C T intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363420 0.64 0.64 0.626 0.635383 0.8191 0.4206 0.7378 0.6293 0.6033 0.81 0.41 0.74 0.59 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114179 NA NA 0.832181 0.647399 NA 0.688 NA 2.348719 1417 16 3106994 3106994 A T intronic MMP25 NA NA NA ncRNA_intronic ENSG00000261971 NA NA NA NA NA 16p13.3 NA NA NA NA rs1064948 0.79 0.79 0.819 0.799121 0.6531 0.9028 0.7478 0.9213 0.7137 0.66 0.91 0.71 0.93 0.6944 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571628 NA NA 0.638533 0.887978 NA 0.703 NA 2.3473003 1417 5 167919623 167919623 T A intronic RARS NA NA NA intronic ENSG00000113643 NA NA NA NA NA 5q34 NA NA NA NA rs184957 0.66 0.66 0.642 0.630192 0.5159 0.7937 0.7061 0.6694 0.4724 0.51 0.78 0.7 0.7 0.5876 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895318 NA NA 0.549302 0.668937 NA 0.471 NA 2.347198 1417 3 130828790 130828790 G A intronic NEK11 NA NA NA intronic ENSG00000114670 NA NA NA NA NA 3q22.1 NA NA NA NA rs9850655 0.41 0.41 0.404 0.400559 0.5696 0.2907 0.4582 0.2322 0.5266 0.56 0.29 0.48 0.27 0.5098 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072332 NA NA 0.574221 0.275204 NA 0.471 NA 2.346379 1417 11 72292860 72292860 C T intronic PDE2A NA NA NA intronic ENSG00000186642 NA NA NA NA NA 11q13.4 NA NA NA NA rs376724 0.67 0.67 0.693 0.674121 0.8201 0.5248 0.5836 0.671 0.7464 0.81 0.48 0.63 0.7 NA 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501202 NA NA 0.834381 0.684971 NA 0.681 NA 2.345519 1418 8 6793540 6793540 C T UTR3 DEFA4 NM_001925:c.*2G>A NA NA UTR3 ENSG00000164821 ENST00000297435:c.*2G>A NA NA NA NA 8p23.1 NA NA NA NA rs736227 0.66 0.66 0.676 0.667532 0.673 0.6151 0.5778 0.7572 0.6585 0.66 0.59 0.64 0.76 0.6382 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800349 NA NA 0.678953 0.696323 NA 0.674 NA 2.3431804 1418 19 36015865 36015865 A C intronic SBSN NA NA NA intronic ENSG00000189001 NA NA NA NA NA 19q13.12 NA NA NA NA rs2285511 0.54 0.54 0.509 0.553115 0.5328 0.5397 0.6124 0.5151 0.5971 0.53 0.55 0.58 0.49 0.5759 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379653 NA NA 0.548721 0.555152 NA 0.442 NA 2.342579 1418 17 5308603 5308603 G A intronic NUP88 NA NA NA intronic ENSG00000108559 NA NA NA NA NA 17p13.2 NA NA NA NA rs3026133 0.73 0.73 0.739 0.781949 0.5417 0.9633 0.5677 0.9009 0.8333 0.55 0.96 0.55 0.89 0.6197 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288755 NA NA 0.49686 0.839083 NA 0.732 NA 2.34174 1418 13 43935405 43935405 C T intronic ENOX1 NA NA NA intronic ENSG00000120658 NA NA NA NA NA 13q14.11 NA NA NA NA rs1535580 0.48 0.48 0.49 0.491613 0.5686 0.3294 0.438 0.5091 0.5941 0.57 0.33 0.47 0.54 0.5212 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.738916 NA NA 0.568605 0.504085 NA 0.58 NA 2.341595 1418 6 55216005 55216005 G A intronic GFRAL NA NA NA intronic ENSG00000187871 NA NA NA NA NA 6p12.1 NA NA NA NA rs870806 0.48 0.48 0.463 0.435503 0.5805 0.5397 0.4107 0.2617 0.4315 0.57 0.48 0.45 0.34 0.5118 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656932 NA NA 0.566279 0.308897 NA 0.406 NA 2.341421 1418 2 71747235 71747235 A G intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs11675897 0.67 0.67 0.674 0.65595 0.838 0.247 0.7147 0.8933 0.5276 0.83 0.22 0.73 0.9 NA 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017724 NA NA 0.821182 0.876445 NA 0.783 NA 2.340818 1418 10 124329673 124329673 C T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740221 0.55 0.55 0.031 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.53 0.64 0.66 0.42 0.7159 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615529 NA NA 0.264442 0.209584 NA NA NA 2.340758 1418 11 13716530 13716530 A G intronic FAR1 NA NA NA intronic ENSG00000197601 NA NA NA NA NA 11p15.2 NA NA NA NA rs7130943 0.47 0.47 0.475 0.490815 0.5427 0.2758 0.4798 0.5552 0.5798 0.53 0.27 0.52 0.57 0.5361 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.581569 NA NA 0.580461 0.547727 NA 0.529 NA 2.340739 1418 5 173200 173200 C T intronic PLEKHG4B NA NA NA intronic ENSG00000153404 NA NA NA NA NA 5p15.33 NA NA NA NA rs6885136 0.44 0.44 0.445 0.456869 0.5378 0.2798 0.4496 0.4607 0.5562 0.53 0.28 0.46 0.45 0.5291 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.972117 NA NA 0.592791 0.487971 NA 0.551 NA 2.340309 1418 1 7737799 7737799 A G intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs3011926 0.59 0.59 0.594 0.591653 0.5686 0.6587 0.5375 0.5855 0.593 0.55 0.65 0.55 0.6 0.5498 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.779855 1.779855 NA 0.541395 0.585338 NA 0.522 NA 2.340205 1418 10 18931512 18931512 T C intronic NSUN6 NA NA NA intronic ENSG00000241058,ENSG00000271786 NA NA NA NA NA 10p12.31 NA NA NA NA rs7907153 0.64 0.64 0.641 0.635383 0.5368 0.9216 0.5749 0.5038 0.6626 0.56 0.95 0.53 0.47 0.5863 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470021 NA NA 0.536761 0.548797 NA 0.558 NA 2.340139 1418 4 26364300 26364300 C G intronic RBPJ NA NA NA intronic ENSG00000168214 NA NA NA NA NA 4p15.2 NA NA NA NA rs13116873 0.49 0.49 0.445 0.485423 0.5507 0.5367 0.6513 0.2504 0.5654 0.56 0.55 0.61 0.21 0.5513 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.2437 1.2437 NA 0.560349 0.301634 NA 0.457 NA 2.337651 1418 6 169620247 169620247 T C intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs9393165 0.66 0.66 0.672 0.685304 0.6491 0.4712 0.7219 0.8888 0.6421 0.65 0.45 0.71 0.88 0.67 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691023 NA NA 0.67686 0.847254 NA 0.652 NA 2.3373733 1418 8 143958427 143958427 C T intronic CYP11B1 NA NA NA intronic ENSG00000104499,ENSG00000160882 NA NA NA NA NA 8q24.3 NA NA NA NA rs6387 0.56 0.56 0.549 0.563698 0.5527 0.7589 0.6182 0.3427 0.6339 0.54 0.75 0.58 0.34 0.5688 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01557 NA NA 0.541279 0.373581 NA 0.572 NA 2.337221 1418 10 115340492 115340492 G A intronic HABP2 NA NA NA intronic ENSG00000148702 NA NA NA NA NA 10q25.3 NA NA NA NA rs2286742 0.56 0.56 0.506 0.552117 0.5447 0.6567 0.6153 0.4198 0.5859 0.54 0.68 0.62 0.4 0.5695 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17272 NA NA 0.548953 0.422833 NA 0.478 NA 2.336847 1418 17 33501432 33501432 C T intronic UNC45B NA NA NA intronic ENSG00000141161 NA NA NA NA NA 17q12 NA NA NA NA rs1384220 0.58 0.58 0.612 0.571486 0.5537 0.7202 0.4841 0.4985 0.5971 0.56 0.72 0.47 0.52 0.5625 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05884 NA NA 0.547326 0.491148 NA 0.609 NA 2.336474 1418 12 1040373 1040373 T C intronic RAD52 NA NA NA intronic ENSG00000002016 NA NA NA NA NA 12p13.33 NA NA NA NA rs7303748 0.52 0.52 0.526 0.544928 0.5636 0.4623 0.4539 0.5681 0.6442 0.56 0.47 0.47 0.55 0.549 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950833 NA NA 0.551628 0.550386 NA 0.645 NA 2.335772 1418 20 25398876 25398876 G C intronic GINS1 NA NA NA intronic ENSG00000101003 NA NA NA NA NA 20p11.21 NA NA NA NA rs4815425 0.43 0.43 0.435 0.456669 0.5646 0.0893 0.6441 0.531 0.4908 0.54 0.07 0.62 0.52 0.5364 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.680306 NA NA 0.563605 0.542669 NA 0.507 NA 2.335395 1418 14 99961830 99961830 T C intronic CCNK NA NA NA intronic ENSG00000090061 NA NA NA NA NA 14q32.2 NA NA NA NA rs2069492 0.44 0.44 0.441 0.447284 0.5716 0.375 0.4092 0.3767 0.5164 0.57 0.34 0.4 0.39 0.5113 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.359157 2.359157 NA 0.581805 0.385016 NA 0.5 NA 2.335295 1419 17 39634576 39634576 T G intronic KRT35 NA NA NA intronic ENSG00000197079 NA NA NA NA NA 17q21.2 NA NA NA NA rs7220061 0.53 0.53 0.518 0.575879 0.5398 0.3403 0.5591 0.7352 0.6524 0.54 0.3 0.61 0.74 0.582 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347627 NA NA 0.543488 0.700409 NA 0.594 NA 2.334712 1419 6 33141253 33141253 T G intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA NA NA 6p21.32 NA NA NA NA rs9277932 0.65 0.65 0.612 0.645168 0.5447 0.7867 0.6542 0.612 0.6411 0.55 0.8 0.65 0.62 0.5985 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.463012 NA NA 0.522093 0.560173 NA 0.63 NA 2.334707 1419 1 15813969 15813969 A C intronic CELA2B NA NA NA intronic ENSG00000215704 NA NA NA NA NA 1p36.21 NA NA NA NA rs3737704 0.66 0.66 0.678 0.651558 0.5358 0.6776 0.5807 0.9047 0.4519 0.56 0.65 0.6 0.88 0.576 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292145 NA NA 0.553953 0.848842 NA 0.536 NA 2.334247 1419 3 39701194 39701194 T C intergenic MOBP,MYRIP dist=143700;dist=150109 NA NA intergenic ENSG00000230757,ENSG00000170011 dist=14998;dist=149211 NA NA NA NA 3p22.1 NA NA NA NA rs6787961 0.98 0.98 NA 0.985224 1 1 0.9899 0.9493 1 1 0.99 0.98 0.96 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807906 NA NA NA NA NA 0.819 NA 2.3333334 1419 20 53969040 53969040 A G intergenic DOK5,CBLN4 dist=701330;dist=603373 NA NA intergenic ENSG00000185834,ENSG00000224008 dist=277355;dist=67834 NA NA NA NA 20q13.2 NA NA NA NA rs211904 0.86 0.86 0.96 0.999201 1 1 1 0.997 1 0.88 0.87 0.88 0.8 NA 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.028296 NA NA NA NA NA 0.935 NA 2.3333334 1419 19 10818092 10818092 G A intronic QTRT1 NA NA NA intronic ENSG00000213339 NA NA NA NA NA 19p13.2 NA NA NA NA rs892085 0.49 0.49 0.463 0.554912 0.5219 0.3641 0.6254 0.6498 0.6074 0.51 0.28 0.59 0.62 0.572 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695284 NA NA 0.573488 0.652746 NA 0.551 NA 2.332612 1419 1 153122620 153122620 T C intronic SPRR2G NA NA NA intronic ENSG00000159516 NA NA NA NA NA 1q21.3 NA NA NA NA rs513555 0.58 0.58 0.586 0.523762 0.5537 0.6091 0.4957 0.4682 0.5 0.55 0.67 0.56 0.51 0.5433 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065211 NA NA 0.570465 0.50227 NA 0.543 NA 2.332535 1419 8 28651298 28651298 A C intronic INTS9 NA NA NA intronic ENSG00000104299 NA NA NA NA NA 8p21.1 NA NA NA NA rs2665911 0.38 0.38 NA 0.363019 0.5537 0.1667 0.5101 0.3011 0.3487 0.54 0.18 0.51 0.29 0.4841 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.814261 NA NA 0.629914 0.326748 NA 0.065 NA 2.332286 1419 5 149602824 149602824 C T intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA NA NA NA rs2241695 0.48 0.48 0.477 0.455471 0.5706 0.6349 0.5375 0.1694 0.4806 0.56 0.62 0.52 0.17 0.542 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.576345 1.576345 NA 0.555503 0.231477 NA 0.355 NA 2.331897 1419 9 35093020 35093020 T C intronic PIGO NA NA NA intronic ENSG00000165282 NA NA NA NA NA 9p13.3 NA NA NA NA rs568300 0.49 0.49 0.45 0.474042 0.5577 0.376 0.6326 0.4017 0.4744 0.56 0.41 0.61 0.39 0.544 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684893 NA NA 0.566512 0.426237 NA 0.58 NA 2.331788 1419 15 90177159 90177159 C T intronic KIF7 NA NA NA intronic ENSG00000166813 NA NA NA NA NA 15q26.1 NA NA NA NA rs11633151 0.46 0.46 0.468 0.435903 0.5626 0.3343 0.4452 0.385 0.4724 0.57 0.36 0.5 0.38 0.5321 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882995 NA NA 0.574221 0.448182 NA 0.471 NA 2.331079 1419 6 118556628 118556628 T C intronic SLC35F1 NA NA NA intronic ENSG00000196376 NA NA NA NA NA 6q22.31 NA NA NA NA rs9489326 0.43 0.43 0.424 0.420128 0.5885 0.2728 0.4179 0.348 0.498 0.58 0.26 0.46 0.36 0.5099 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097558 NA NA 0.570698 0.397139 NA 0.449 NA 2.330902 1419 8 120801805 120801805 C T intronic TAF2 NA NA NA intronic ENSG00000064313 NA NA NA NA NA 8q24.12 NA NA NA NA rs6469846 0.56 0.56 0.539 0.524361 0.5517 0.4296 0.6556 0.5998 0.3988 0.56 0.42 0.64 0.65 0.5559 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115339 NA NA 0.562442 0.605992 NA 0.703 NA 2.329958 1419 16 89653032 89653032 G A intronic CPNE7 NA NA NA intronic ENSG00000178773 NA NA NA NA NA 16q24.3 NA NA NA NA rs452176 0.46 0.46 0.412 0.398163 0.5934 0.3105 0.6095 0.2209 0.3773 0.59 0.37 0.65 0.24 0.5128 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407787 NA NA 0.564186 0.27343 NA 0.5 NA 2.329614 1419 22 30738737 30738737 G A intronic SF3A1 NA NA NA intronic ENSG00000099995 NA NA NA NA NA 22q12.2 NA NA NA NA rs5753080 0.9 0.9 0.91 0.910543 0.8459 0.9157 0.8573 0.9879 0.9049 0.85 0.91 0.87 0.98 NA 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135229 NA NA 0.824639 0.964595 NA 0.949 NA 2.329461 1419 14 105618670 105618670 T C intronic JAG2 NA NA NA ncRNA_intronic ENSG00000257622 NA NA NA NA NA 14q32.33 NA NA NA NA rs2238287 0.69 0.69 0.695 0.689297 0.669 0.5308 0.6599 0.8926 0.6196 0.68 0.58 0.66 0.86 0.6705 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798155 NA NA 0.664726 0.841096 NA 0.797 NA 2.3291073 1419 10 74100642 74100642 G A intronic DNAJB12 NA NA NA intronic ENSG00000148719 NA NA NA NA NA 10q22.1 NA NA NA NA rs9416018 0.31 0.31 0.293 0.284545 0.5795 0.0397 0.4121 0.1104 0.3783 0.57 0.06 0.45 0.1 0.4808 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.396162 1.396162 NA 0.611047 0.194054 NA 0.435 NA 2.328653 1419 17 18541775 18541775 A G intronic TBC1D28 NA NA NA intronic ENSG00000189375 NA NA NA NA NA 17p11.2 NA NA NA NA rs9902086 0.68 0.68 0.687 0.717652 0.5497 0.9583 0.6455 0.7405 0.6626 0.49 0.95 0.63 0.67 0.6023 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89122 NA NA 0.519389 0.71643 NA 0.58 NA 2.328611 1419 14 24845154 24845154 C A intronic NFATC4 NA NA NA intronic ENSG00000100968 NA NA NA NA NA 14q12 NA NA NA NA rs12880769 0.33 0.33 0.314 0.284545 0.5885 0.1528 0.3876 0.0741 0.319 0.58 0.16 0.42 0.08 0.4804 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112373 NA NA 0.603721 0.156605 NA 0.5 NA 2.327379 1419 14 24843699 24843699 C T intronic NFATC4 NA NA NA intronic ENSG00000100968 NA NA NA NA NA 14q12 NA NA NA NA rs12890614 0.33 0.33 0.316 0.284545 0.5885 0.1528 0.3876 0.0741 0.319 0.58 0.16 0.42 0.08 0.4796 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.520497 NA NA 0.605 0.156832 NA 0.5 NA 2.3269 1419 9 14155769 14155769 T C intronic NFIB NA NA NA intronic ENSG00000147862 NA NA NA NA NA 9p23 NA NA NA NA rs12349255 0.56 0.56 0.54 0.46865 0.829 0.4881 0.6153 0.0363 0.5583 0.83 0.56 0.68 0.05 NA 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448215 NA NA 0.844994 0.153623 NA 0.543 NA 2.326006 1420 20 58420336 58420336 G A intronic PHACTR3 NA NA NA intronic ENSG00000087495 NA NA NA NA NA 20q13.33 NA NA NA NA rs1416388 0.71 0.71 0.738 0.722045 0.5477 0.7569 0.6297 0.9788 0.5838 0.54 0.77 0.64 0.97 0.6042 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047458 NA NA 0.523261 0.899909 NA 0.775 NA 2.324839 1420 2 25458546 25458546 C T intronic DNMT3A NA NA NA intronic ENSG00000119772 NA NA NA NA NA 2p23.3 NA NA NA NA rs2304429 0.4 0.4 0.368 0.360823 0.5785 0.3065 0.5274 0.1014 0.4254 0.59 0.31 0.52 0.14 0.5098 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875558 NA NA 0.587442 0.198366 NA 0.348 NA 2.324258 1420 8 36788693 36788693 T C intronic KCNU1 NA NA NA intronic ENSG00000215262 NA NA NA NA NA 8p11.23 NA NA NA NA rs6986249 0.56 0.56 0.54 0.589058 0.5328 0.5724 0.6427 0.5711 0.6503 0.53 0.58 0.65 0.53 0.5778 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319737 NA NA 0.565239 0.6042 NA 0.399 NA 2.324161 1420 11 36057626 36057626 G A intronic LDLRAD3 NA NA NA intronic ENSG00000179241 NA NA NA NA NA 11p13 NA NA NA NA rs262451 0.44 0.44 0.402 0.399561 0.5815 0.4147 0.6354 0.1717 0.3374 0.57 0.38 0.62 0.19 0.5203 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4643 NA NA 0.574104 0.244096 NA 0.449 NA 2.324096 1420 16 1825768 1825768 A C intronic EME2 NA NA NA intronic ENSG00000197774 NA NA NA NA NA 16p13.3 NA NA NA NA rs2745169 0.39 0.39 0.349 0.333866 0.5775 0.2847 0.5749 0.0938 0.2873 0.57 0.27 0.59 0.11 0.4992 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535202 NA NA 0.60014 0.16462 NA 0.348 NA 2.32316 1420 7 83764309 83764309 C G intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA NA NA rs17241389 0.54 0.54 0.519 0.504792 0.5726 0.6835 0.5706 0.3313 0.4387 0.56 0.69 0.55 0.33 0.5337 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244281 NA NA 0.57093 0.383114 NA 0.406 NA 2.32277 1420 8 120795607 120795607 G A intronic TAF2 NA NA NA intronic ENSG00000064313 NA NA NA NA NA 8q24.12 NA NA NA NA rs13268676 0.57 0.57 0.535 0.545327 0.5527 0.4296 0.6585 0.677 0.3988 0.56 0.42 0.64 0.7 0.5621 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.398008 NA NA 0.562674 0.673627 ID=COSN168404;OCCURENCE=1(large_intestine) 0.703 NA 2.322526 1420 4 7728658 7728658 C T intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs2301745 0.62 0.62 0.661 0.631989 0.5815 0.6062 0.4697 0.8222 0.5685 0.57 0.61 0.52 0.78 0.5529 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56373 NA NA 0.543348 0.796296 NA 0.536 NA 2.322252 1420 2 170492567 170492567 A G intronic PPIG NA NA NA intronic ENSG00000138398 NA NA NA NA NA 2q31.1 NA NA NA NA rs2290007 0.55 0.55 0.562 0.584265 0.5378 0.4296 0.4625 0.7595 0.6411 0.54 0.43 0.51 0.71 0.5726 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850836 NA NA 0.568187 0.724044 ID=COSN166327;OCCURENCE=1(NS) 0.609 NA 2.321413 1420 8 120814020 120814020 A G intronic TAF2 NA NA NA intronic ENSG00000064313 NA NA NA NA NA 8q24.12 NA NA NA NA rs7813438 0.57 0.57 0.562 0.546326 0.5527 0.4306 0.6585 0.677 0.4029 0.56 0.42 0.64 0.7 0.563 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321782 NA NA 0.563023 0.675216 ID=COSN168406;OCCURENCE=1(large_intestine) 0.703 NA 2.321277 1420 22 51011936 51011936 T C ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA NA NA rs131760 0.78 0.78 0.773 0.807308 0.6481 0.9732 0.768 0.8071 0.8282 0.64 0.97 0.72 0.81 0.7263 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.108003 NA NA 0.637674 0.778484 NA 0.775 NA 2.3212593 1420 6 10802101 10802101 G A intronic MAK NA NA NA intronic ENSG00000111837,ENSG00000137210,ENSG00000153157,ENSG00000272162 NA NA NA NA NA 6p24.2 NA NA NA NA rs4712966 0.47 0.47 0.441 0.420727 0.5795 0.504 0.4971 0.1384 0.499 0.6 0.51 0.53 0.17 0.5231 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154799 NA NA 0.577209 0.200635 NA 0.406 NA 2.320191 1420 1 220162195 220162195 T C ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs2254494 0.59 0.59 0.56 0.560304 0.666 0.5804 0.6427 0.3971 0.593 0.66 0.6 0.63 0.43 0.6502 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155355 NA NA 0.697026 0.447996 NA 0.565 NA 2.3201073 1420 15 60748810 60748810 T A intronic NARG2 NA NA NA intronic ENSG00000128915 NA NA NA NA NA 15q22.2 NA NA NA NA rs7163427 0.58 0.58 0.27 0.59385 0.5676 0.8254 0.6484 0.2557 0.8006 0.56 0.84 0.63 0.25 0.608 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376363 NA NA 0.505233 0.239664 NA 0.036 NA 2.319167 1420 7 83739762 83739762 T C intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA NA NA 7q21.11 NA NA NA NA rs1990044 0.53 0.53 0.505 0.489816 0.5765 0.7024 0.5793 0.2519 0.4397 0.56 0.71 0.55 0.25 0.5298 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915489 NA NA 0.574767 0.305719 NA 0.384 NA 2.318933 1420 9 110081018 110081018 A G intronic RAD23B NA NA NA intronic ENSG00000119318 NA NA NA NA NA 9q31.2 NA NA NA NA rs1805335 0.61 0.61 0.595 0.579073 0.5726 0.748 0.4899 0.5651 0.4939 0.56 0.76 0.56 0.56 0.5495 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204608 NA NA 0.559186 0.542896 NA 0.572 NA 2.318714 1420 11 900929 900929 C G intronic CHID1 NA NA NA intronic ENSG00000177830 NA NA NA NA NA 11p15.5 NA NA NA NA rs10794339 0.63 0.63 0.647 0.677117 0.5358 0.7579 0.5418 0.7088 0.7924 0.53 0.72 0.53 0.73 0.5963 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433351 NA NA 0.550128 0.705856 NA 0.558 NA 2.317772 1420 7 50547584 50547584 A C intronic DDC NA NA NA intronic ENSG00000132437 NA NA NA NA NA 7p12.1 NA NA NA NA rs11575457 0.53 0.53 0.511 0.523762 0.5616 0.4583 0.6167 0.503 0.5143 0.56 0.44 0.67 0.5 0.5527 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021334 NA NA 0.568605 0.511121 NA 0.5 NA 2.317095 1420 3 9962157 9962157 T C intronic IL17RC NA NA NA intronic ENSG00000163702 NA NA NA NA NA 3p25.3 NA NA NA NA rs783494 0.42 0.42 0.433 0.415136 0.5746 0.0962 0.4611 0.553 0.3609 0.58 0.07 0.46 0.54 0.562 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450584 NA NA 0.547708 0.53612 NA 0.37 NA 2.315692 1420 12 117013730 117013730 G C UTR5 MAP1LC3B2 NM_001085481:c.-18G>C NA NA UTR5 ENSG00000171471 ENST00000306985:c.-18G>C,ENST00000556529:c.-18G>C NA NA NA NA 12q24.22 NA NA NA NA rs7303998 0.51 0.51 0.502 0.521765 0.7038 0.2788 0.4669 0.5545 0.5798 0.71 0.26 0.51 0.51 0.6077 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853533 NA NA 0.706512 0.578075 NA 0.406 NA 2.3153214 1420 20 2552926 2552926 T C intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs1883980 0.52 0.52 0.489 0.523962 0.5716 0.4931 0.6225 0.3366 0.6902 0.59 0.48 0.63 0.38 0.5592 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515332 NA NA 0.553953 0.361779 ID=COSN166460;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.58 NA 2.315247 1420 19 3207348 3207348 G C intronic NCLN NA NA NA intronic ENSG00000125912 NA NA NA NA NA 19p13.3 NA NA NA NA rs312069 0.66 0.66 0.64 0.67472 0.5586 0.8909 0.5447 0.6233 0.7331 0.56 0.91 0.55 0.61 0.5919 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548432 NA NA 0.534302 0.632093 NA 0.638 NA 2.315198 1421 10 123243197 123243197 G A intronic FGFR2 NA NA NA intronic ENSG00000066468 NA NA NA NA NA 10q26.13 NA NA NA NA rs2278202 0.42 0.42 0.368 0.423123 0.5398 0.3333 0.6888 0.1082 0.6329 0.56 0.38 0.65 0.1 0.5614 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909121 NA NA 0.583837 0.20177 ID=COSN163794;OCCURENCE=1(breast) 0.449 NA 2.314963 1421 3 16450872 16450872 T C intronic RFTN1 NA NA NA intronic ENSG00000131378 NA NA NA NA NA 3p24.3 NA NA NA NA rs1546650 0.61 0.61 0.621 0.63099 0.5517 0.5942 0.5591 0.7988 0.5746 0.52 0.62 0.57 0.76 0.5627 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532769 NA NA 0.571512 0.748298 NA 0.645 NA 2.314088 1421 3 123666192 123666192 C T intronic CCDC14 NA NA NA intronic ENSG00000175455 NA NA NA NA NA 3q21.1 NA NA NA NA rs17375977 0.33 0.33 0.299 0.315296 0.5696 0.0982 0.4063 0.1747 0.4029 0.56 0.08 0.47 0.17 0.4968 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.558302 1.558302 NA 0.619907 0.264532 NA 0.333 NA 2.313693 1421 3 29529907 29529907 G A intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs2371695 0.56 0.56 NA 0.544728 0.5795 0.4603 0.6037 0.6036 0.4744 0.58 0.5 0.59 0.58 0.5476 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160499 NA NA 0.559302 0.596232 NA 0.674 NA 2.313598 1421 14 62550877 62550877 G A intronic SYT16 NA NA NA intronic ENSG00000139973 NA NA NA NA NA 14q23.2 NA NA NA NA rs2353778 0.51 0.51 0.484 0.520567 0.5666 0.5129 0.6326 0.3079 0.6892 0.57 0.53 0.63 0.33 0.564 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.281915 NA NA 0.558114 0.326153 NA 0.587 NA 2.311286 1421 11 822622 822622 A G intronic PNPLA2 NA NA NA intronic ENSG00000177666 NA NA NA NA NA 11p15.5 NA NA NA NA rs7942159 0.51 0.51 0.439 0.442492 0.5736 0.2817 0.683 0.4902 0.2382 0.57 0.33 0.65 0.51 0.5342 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583817 NA NA 0.581414 0.515909 NA 0.449 NA 2.310786 1421 9 130984430 130984430 C A intronic DNM1 NA NA NA intronic ENSG00000106976 NA NA NA NA NA 9q34.11 NA NA NA NA rs3003608 0.57 0.57 0.551 0.58127 0.5666 0.6865 0.6556 0.4569 0.6033 0.57 0.66 0.62 0.45 0.5764 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135205 NA NA 0.546744 0.501816 NA 0.565 NA 2.310256 1421 18 6898415 6898415 C T intronic ARHGAP28 NA NA NA intronic ENSG00000088756 NA NA NA NA NA 18p11.31 NA NA NA NA rs12185460 0.56 0.56 0.569 0.528355 0.5676 0.6052 0.5173 0.4508 0.5215 0.55 0.68 0.54 0.46 0.5607 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.423373 NA NA 0.561744 0.47685 NA 0.536 NA 2.309956 1421 10 119014023 119014023 C T intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA Name=NRSF NA NA rs2072362 0.85 0.85 0.838 0.841054 0.9125 0.7004 0.915 0.9266 0.7444 0.91 0.68 0.88 0.92 0.8774 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069577 NA NA 0.900233 0.921471 NA 0.848 NA 2.309867 1421 7 87180198 87180198 C T intronic ABCB1 NA NA NA intronic ENSG00000085563 NA NA NA NA NA 7q21.12 NA NA NA NA rs10276036 0.56 0.56 0.578 0.567692 0.5845 0.373 0.5893 0.8064 0.4131 0.57 0.34 0.56 0.81 0.5379 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026494 NA NA 0.569667 0.727273 NA 0.594 NA 2.307933 1421 21 38302769 38302769 C T intronic HLCS NA NA NA intronic ENSG00000159267 NA NA NA NA NA 21q22.13 NA NA NA NA rs2073425 0.57 0.57 0.56 0.559704 0.5467 0.625 0.6585 0.466 0.5624 0.56 0.61 0.65 0.48 0.5863 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352072 NA NA 0.559767 0.501816 NA 0.616 NA 2.307233 1421 19 15072787 15072787 A T UTR3 SLC1A6 NM_001272088:c.*23T>A,NM_001272087:c.*23T>A NA NA UTR3 ENSG00000105143 ENST00000544886:c.*23T>A,ENST00000598504:c.*23T>A NA NA NA NA 19p13.12 NA NA NA NA rs3827000 0.73 0.73 0.738 0.755591 0.67 0.7222 0.7262 0.8684 0.7464 0.66 0.71 0.72 0.85 0.6989 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591142 NA NA 0.657674 0.836813 NA 0.768 NA 2.3067594 1421 5 127622983 127622983 C T intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA NA NA 5q23.3 NA NA NA NA rs2042327 0.37 0.37 0.357 0.357628 0.5934 0.2004 0.5749 0.0832 0.4939 0.61 0.19 0.54 0.1 0.5184 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069154 NA NA 0.581744 0.173854 NA 0.268 NA 2.306456 1421 17 76134828 76134828 C A intronic TMC8 NA NA NA intronic ENSG00000167895 NA NA NA NA NA 17q25.3 NA NA NA NA rs7221365 0.6 0.6 0.611 0.601837 0.5547 0.4167 0.6499 0.8003 0.5389 0.56 0.46 0.68 0.75 0.5816 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.181917 NA NA 0.557674 0.750567 NA 0.529 NA 2.306026 1421 6 160201295 160201295 C A ncRNA_exonic SNORA20 NA NA NA ncRNA_exonic ENSG00000207392 NA NA NA NA NA 6q25.3 NA NA NA NA rs2295901 0.73 0.73 0.715 0.753594 0.7952 0.5893 0.8732 0.7141 0.8487 0.8 0.57 0.87 0.71 0.7914 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857049 NA NA 0.774485 0.687215 NA 0.645 NA 2.3055816 1422 19 3641672 3641672 C T intronic PIP5K1C NA NA NA intronic ENSG00000186111 NA NA NA NA NA 19p13.3 NA NA NA NA rs3815338 0.49 0.49 0.487 0.468251 0.5726 0.3601 0.6095 0.4153 0.4438 0.58 0.36 0.6 0.43 0.5497 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331844 NA NA 0.57304 0.448025 NA 0.551 NA 2.30466 1422 5 169031218 169031218 G T UTR3 SPDL1 NM_017785:c.*7G>T NA NA UTR3 ENSG00000040275 ENST00000265295:c.*7G>T NA NA NA NA 5q35.1 NA NA NA NA rs2042248 0.67 0.67 0.672 0.676717 0.672 0.7331 0.6023 0.6619 0.6963 0.69 0.72 0.6 0.63 0.6677 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.207873 NA NA 0.690233 0.6532 NA 0.601 NA 2.3034004 1422 6 114279783 114279783 A T intronic HDAC2 NA NA NA intronic ENSG00000196591 NA NA NA NA NA 6q21 NA NA NA NA rs2243356 0.55 0.55 0.523 0.553914 0.5696 0.6954 0.5202 0.4002 0.6237 0.56 0.68 0.51 0.39 0.5614 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.009203 NA NA 0.565642 0.439924 NA 0.5 NA 2.303358 1422 21 46952094 46952094 T C intronic SLC19A1 NA NA NA intronic ENSG00000173638 NA NA NA NA NA 21q22.3 NA NA NA NA rs914231 0.51 0.51 0.458 0.514377 0.5557 0.4722 0.5865 0.4017 0.6166 0.57 0.47 0.57 0.42 0.5606 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115476 NA NA 0.580784 0.443938 NA 0.341 NA 2.302916 1422 18 6890591 6890591 C T intronic ARHGAP28 NA NA NA intronic ENSG00000088756 NA NA NA NA NA 18p11.31 NA NA NA NA rs1116756 0.59 0.59 0.586 0.562101 0.5686 0.6052 0.5331 0.5696 0.5215 0.55 0.68 0.55 0.57 0.5671 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476241 NA NA 0.561889 0.572888 NA 0.572 NA 2.302411 1422 20 2315929 2315929 C T intronic TGM3 NA NA NA intronic ENSG00000125780 NA NA NA NA NA 20p13 NA NA NA NA rs2076406 0.64 0.64 0.606 0.678115 0.5318 0.8909 0.6081 0.5877 0.7812 0.51 0.87 0.6 0.58 0.6143 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.394235 NA NA 0.55186 0.588743 NA 0.645 NA 2.30204 1422 20 60971327 60971327 A C intronic CABLES2 NA NA NA intronic ENSG00000149679 NA NA NA NA NA 20q13.33 NA NA NA NA rs748037 0.53 0.53 0.552 0.570288 0.5885 0.1617 0.5764 0.8949 0.5297 0.57 0.12 0.6 0.88 0.5411 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038189 NA NA 0.569651 0.832728 NA 0.63 NA 2.300749 1422 9 132381749 132381749 G A intronic C9orf50 NA NA NA intronic ENSG00000148335,ENSG00000179058 NA NA NA NA NA 9q34.11 NA NA NA NA rs4240434 0.48 0.48 0.431 0.447684 0.5577 0.505 0.4928 0.2874 0.4601 0.57 0.5 0.51 0.28 0.5302 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.136449 NA NA 0.612558 0.330685 NA 0.37 NA 2.299542 1422 10 61802550 61802550 A T intronic ANK3 NA NA NA intronic ENSG00000151150 NA NA NA NA NA 10q21.2 NA NA NA NA rs9888033 0.61 0.61 0.603 0.611821 0.5497 0.7579 0.5375 0.6233 0.5624 0.56 0.74 0.54 0.6 0.576 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340475 1.340475 NA 0.574767 0.610304 NA 0.471 NA 2.299533 1422 17 48652875 48652875 A G intronic CACNA1G NA NA NA intronic ENSG00000006283 NA NA NA NA NA 17q21.33 NA NA NA NA rs198550 0.68 0.68 0.699 0.696086 0.5368 0.9355 0.6282 0.6611 0.7086 0.54 0.94 0.59 0.67 0.6267 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.836357 NA NA 0.536976 0.64945 NA 0.587 NA 2.299524 1422 11 65004301 65004301 G T intergenic SLC22A20,POLA2 dist=10790;dist=25131 NA NA ncRNA_exonic ENSG00000197847 NA NA NA Score=346;Name=lod=34 NA 11q13.1 NA NA NA NA rs2904982 0.91 0.91 0.912 0.880192 0.9026 0.9385 0.8963 0.8828 0.7822 0.91 0.92 0.89 0.89 0.8923 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74174 NA 0 0.905856 0.881661 NA 0.906 NA 2.299244 1422 5 132038199 132038199 C T intronic KIF3A NA NA NA ncRNA_intronic ENSG00000230612 NA NA NA NA NA 5q31.1 NA NA NA NA rs3213639 0.47 0.47 0.448 0.478834 0.7177 0.1667 0.5144 0.3737 0.6718 0.71 0.17 0.57 0.38 0.6086 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671062 NA NA 0.708653 0.381698 NA 0.616 NA 2.2983803 1422 12 78511755 78511755 T C intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs300442 0.78 0.78 0.744 0.736422 0.8419 0.6895 0.8256 0.7443 0.6022 0.85 0.65 0.85 0.76 NA 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163292 NA NA 0.860121 0.769977 NA 0.783 NA 2.297979 1422 22 23090423 23090423 G C intergenic GGTLC2,MIR650 dist=100055;dist=74847 NA NA downstream ENSG00000211665 NA NA NA NA NA 22q11.22 NA NA NA NA rs34605189 0.48 0.48 0.374 0.596246 0.6193 0.6399 0.647 0.4773 0.6524 0.53 0.51 0.48 0.36 0.5836 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877959 NA NA NA NA NA 0.442 NA 2.2971 1422 5 64890479 64890479 A C intronic TRIM23 NA NA NA intronic ENSG00000113595 NA NA NA NA NA 5q12.3 NA NA NA NA rs36135 0.56 0.56 0.19 0.497804 0.5547 0.3859 0.4597 0.5227 0.5481 0.64 0.41 0.52 0.63 0.6302 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200349 NA NA 0.518148 0.497957 NA 0.732 NA 2.296952 1422 12 123460962 123460962 T C intronic OGFOD2 NA NA NA ncRNA_intronic ENSG00000256028 NA NA NA NA NA 12q24.31 NA NA NA NA rs884956 0.54 0.54 0.467 0.485224 0.6918 0.6637 0.6023 0.0605 0.5798 0.71 0.64 0.62 0.08 0.6304 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.442662 1.442662 NA 0.714268 0.191355 NA 0.471 NA 2.2968653 1422 3 61734539 61734539 T C intronic PTPRG NA NA NA intronic ENSG00000144724 NA NA NA NA NA 3p14.2 NA NA NA NA rs3821880 0.61 0.61 0.593 0.596046 0.5706 0.7302 0.5418 0.5454 0.591 0.56 0.76 0.58 0.55 0.5753 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605895 NA NA 0.557558 0.550613 NA 0.63 NA 2.296542 1422 15 33191023 33191023 A G intronic FMN1 NA NA NA intronic ENSG00000248905 NA NA NA NA NA 15q13.3 NA NA NA NA rs173224 0.61 0.61 0.64 0.657748 0.5616 0.5129 0.4971 0.9531 0.6207 0.54 0.51 0.48 0.95 0.5795 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832399 NA NA 0.562849 0.887985 NA 0.616 NA 2.296051 1422 6 30890871 30890871 T C intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA NA NA NA rs753725 0.58 0.58 0.536 0.615815 0.5596 0.8413 0.6297 0.3585 0.7791 0.58 0.8 0.6 0.3 0.6056 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811547 NA NA 0.538959 0.376159 NA 0.616 NA 2.295841 1423 1 183101686 183101686 G A intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs12095664 0.53 0.53 0.496 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.5725 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229423 NA NA 0.569186 0.374262 NA 0.464 NA 2.294714 1423 17 15968143 15968143 T C intronic NCOR1 NA NA NA intronic ENSG00000141027 NA NA NA NA NA 17p12 NA NA NA NA rs2285583 0.55 0.55 0.578 0.583067 0.5706 0.2808 0.5389 0.888 0.5266 0.58 0.26 0.54 0.88 0.5579 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086856 NA NA 0.57686 0.847254 ID=COSN165345;OCCURENCE=1(breast) 0.58 NA 2.29464 1423 18 28916290 28916290 G A intronic DSG1 NA NA NA intronic ENSG00000134760 NA NA NA NA NA 18q12.1 NA NA NA NA rs6506917 0.48 0.48 0.467 0.541733 0.5885 0.131 0.402 0.7723 0.7045 0.59 0.12 0.46 0.76 0.5546 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946836 NA NA 0.562646 0.70953 NA 0.587 NA 2.294254 1423 12 123343571 123343571 T G intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA NA NA rs2343110 NA NA NA 0.785942 0.8648 0.7639 0.928 0.7337 0.6973 NA NA NA NA 0.8411 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664719 NA NA NA NA NA NA NA 2.2941 1423 4 109735133 109735133 T C intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs2305436 0.5 0.5 0.466 0.485423 0.5805 0.5258 0.5259 0.2912 0.5798 0.61 0.47 0.53 0.35 0.5554 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118358 NA NA 0.571059 0.331382 NA 0.399 NA 2.293041 1423 11 108722851 108722851 C G intronic DDX10 NA NA NA intronic ENSG00000178105 NA NA NA NA NA 11q22.3 NA NA NA NA rs10890899 0.39 0.39 0.342 0.369209 0.5447 0.4028 0.5403 0.031 0.4898 0.55 0.4 0.52 0.05 0.558 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027397 NA NA 0.604632 0.133348 NA 0.37 NA 2.292668 1423 8 145771211 145771211 C G intronic ARHGAP39 NA NA NA intronic ENSG00000147799 NA NA NA NA NA 8q24.3 NA NA NA NA rs2721161 0.59 0.59 0.55 0.61262 0.5338 0.6181 0.5605 0.6959 0.6125 0.53 0.59 0.58 0.68 0.6078 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.581052 NA NA 0.566021 0.65569 NA 0.572 NA 2.292379 1423 1 183095234 183095234 A G intronic LAMC1 NA NA NA intronic ENSG00000135862 NA NA NA NA NA 1q25.3 NA NA NA NA rs1886501 0.53 0.53 0.509 0.531749 0.5636 0.628 0.6254 0.3321 0.6033 0.57 0.58 0.58 0.38 0.5748 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.358559 2.358559 NA 0.569419 0.374489 NA 0.457 NA 2.292181 1423 20 25320228 25320228 T A intronic ABHD12 NA NA NA intronic ENSG00000100997 NA NA NA NA NA 20p11.21 NA NA NA NA rs6050544 0.47 0.47 0.446 0.485224 0.5716 0.0893 0.6571 0.6263 0.4918 0.57 0.07 0.65 0.63 0.5717 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432952 NA NA 0.565043 0.628995 NA 0.551 NA 2.291657 1423 12 51722311 51722311 C T UTR3 CELA1 NM_001971:c.*50G>A NA NA UTR3 ENSG00000139610 ENST00000293636:c.*50G>A NA NA NA NA 12q13.13 NA NA NA NA rs7138439 0.64 0.64 0.646 0.622005 0.6938 0.6528 0.5605 0.5038 0.7198 0.72 0.68 0.59 0.53 0.6634 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712694 NA NA 0.685349 0.529505 NA 0.565 NA 2.2907844 1423 8 27369334 27369334 A G intronic EPHX2 NA NA NA intronic ENSG00000120915 NA NA NA NA NA 8p21.2 NA NA NA NA rs7816586 0.65 0.65 0.671 0.680911 0.5487 0.6042 0.4942 0.9713 0.636 0.54 0.59 0.55 0.95 0.5842 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217416 NA NA 0.576512 0.896959 NA 0.797 NA 2.290588 1423 9 136584196 136584196 T G intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs2027963 0.55 0.55 0.537 0.526757 0.5577 0.5565 0.5965 0.4871 0.4683 0.56 0.56 0.62 0.49 0.5661 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520527 NA NA 0.585814 0.515887 ID=COSN168695;OCCURENCE=1(large_intestine) 0.464 NA 2.290386 1423 21 42818106 42818106 C T intronic MX1 NA NA NA intronic ENSG00000157601 NA NA NA NA NA 21q22.3 NA NA NA NA rs467773 0.43 0.43 0.429 0.46246 0.5885 0.2857 0.4496 0.4455 0.547 0.56 0.23 0.46 0.44 0.5321 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.031298 NA NA 0.58909 0.449841 NA 0.478 NA 2.29031 1423 6 147635385 147635385 C G intronic STXBP5 NA NA NA intronic ENSG00000164506 NA NA NA NA NA 6q24.3 NA NA NA NA rs1039083 0.5 0.5 0.49 0.508786 0.5686 0.3056 0.598 0.5658 0.5164 0.58 0.32 0.56 0.55 0.5508 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006976 NA NA 0.591628 0.544773 NA 0.442 NA 2.288972 1423 1 19595892 19595892 G A ncRNA_intronic AKR7L NA NA NA intronic ENSG00000211454 NA NA NA NA NA 1p36.13 NA NA NA NA rs6665423 0.66 0.66 0.646 0.666134 0.6918 0.8016 0.7349 0.3986 0.8129 0.68 0.81 0.72 0.41 0.6896 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497537 NA NA 0.663419 0.436416 NA 0.428 NA 2.2885143 1423 2 11718591 11718591 C T intronic GREB1 NA NA NA intronic ENSG00000196208 NA NA NA NA NA 2p25.1 NA NA NA NA rs1529868 0.52 0.52 0.493 0.529752 0.5507 0.5486 0.4957 0.4652 0.6002 0.57 0.52 0.5 0.47 0.5759 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732832 NA NA 0.585 0.481389 NA 0.529 NA 2.2884 1423 5 149435759 149435759 G A intronic CSF1R NA NA NA intronic ENSG00000182578 NA NA NA NA NA 5q32 NA NA NA NA rs216136 0.42 0.42 0.391 0.394169 0.5785 0.4593 0.4366 0.0983 0.5072 0.6 0.43 0.46 0.11 0.5308 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049557 NA NA 0.603488 0.177939 ID=COSN167607;OCCURENCE=1(large_intestine) 0.406 NA 2.287212 1423 6 90605836 90605836 T A downstream GJA10 NA NA NA UTR3 ENSG00000135355 ENST00000369352:c.*17T>A NA NA NA NA 6q15 NA NA NA NA rs7738845 0.71 0.71 0.708 0.710264 0.5408 0.9266 0.7406 0.7405 0.5992 0.54 0.94 0.74 0.7 0.6328 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285322 NA NA 0.539455 0.71425 NA 0.645 NA 2.286945 1423 18 54354074 54354074 C T intronic WDR7 NA NA NA intronic ENSG00000091157 NA NA NA NA NA 18q21.31 NA NA NA NA rs1943016 0.76 0.76 NA 0.730431 0.8579 0.9573 0.8674 0.2602 0.9039 0.88 0.97 0.87 0.27 0.8554 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661184 NA NA NA NA NA 0.652 NA 2.2867 1423 2 44079004 44079004 T C intronic ABCG8 NA NA NA intronic ENSG00000143921 NA NA NA NA NA 2p21 NA NA NA NA rs4148214 0.65 0.65 0.632 0.683706 0.5388 0.8581 0.5476 0.6989 0.729 0.56 0.86 0.51 0.66 0.6177 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392206 NA NA 0.557326 0.66818 NA 0.623 NA 2.286174 1423 13 32828553 32828553 A G intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs2157961 0.48 0.48 0.45 0.459265 0.5954 0.4841 0.5504 0.1944 0.5869 0.59 0.49 0.57 0.22 0.5374 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.73603 1.73603 NA 0.581546 0.275927 NA 0.435 NA 2.285654 1423 9 113141815 113141815 A G intronic SVEP1 NA NA NA intronic ENSG00000165124 NA NA NA NA NA 9q31.3 NA NA NA NA rs992883 0.48 0.48 0.474 0.497204 0.5696 0.251 0.4769 0.6286 0.5133 0.55 0.24 0.5 0.62 0.5469 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796902 NA NA 0.598037 0.635602 NA 0.558 NA 2.285463 1423 11 9081926 9081926 C T intronic SCUBE2 NA NA NA ncRNA_intronic ENSG00000253973 NA NA NA NA NA 11p15.4 NA NA NA NA rs7112378 0.59 0.59 0.548 0.596645 0.6759 0.6984 0.7305 0.264 0.7648 0.68 0.66 0.71 0.27 0.6764 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.60933 NA NA 0.695764 0.341663 NA 0.507 NA 2.2852693 1423 12 125435388 125435388 C T intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs10773125 0.57 0.57 0.518 0.58746 0.5706 0.7917 0.6239 0.3086 0.7454 0.57 0.81 0.62 0.28 0.5946 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494865 NA NA 0.549767 0.332728 NA 0.413 NA 2.285033 1424 1 154401972 154401972 T C intronic IL6R NA NA NA intronic ENSG00000160712 NA NA NA NA NA 1q21.3 NA NA NA NA rs6694817 0.58 0.58 0.576 0.569888 0.5567 0.4345 0.6816 0.6891 0.4826 0.54 0.48 0.66 0.7 0.5713 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.190297 2.190297 NA 0.58724 0.676941 NA 0.645 NA 2.28476 1424 19 7621648 7621648 C T intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs489056 0.39 0.39 0.396 0.379593 0.6004 0.2034 0.4813 0.2262 0.4693 0.59 0.19 0.52 0.23 0.5143 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403189 NA NA 0.600814 0.289605 NA 0.326 NA 2.284486 1424 7 75183403 75183403 A G intronic HIP1 NA NA NA intronic ENSG00000127946 NA NA NA NA NA 7q11.23 NA NA NA NA rs1167807 0.68 0.68 0.672 0.675919 0.5318 0.6726 0.6945 0.8707 0.5511 0.54 0.68 0.69 0.88 0.6247 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.01885 2.01885 NA 0.561047 0.805266 NA 0.594 NA 2.282453 1424 18 14538010 14538010 T C intronic POTEC NA NA NA intronic ENSG00000183206 NA NA NA NA NA 18p11.21 NA NA NA NA rs6505912 0.43 0.43 0.42 0.317292 0.5934 0.128 0.4035 0.2201 0.2986 0.67 0.14 0.5 0.33 0.4748 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530987 NA NA 0.65022 0.320087 NA 0.007 NA 2.28158 1424 4 88959381 88959381 G A intronic PKD2 NA NA NA intronic ENSG00000118762 NA NA NA NA NA 4q22.1 NA NA NA NA rs2725221 0.69 0.69 0.685 0.696286 0.5736 0.6558 0.6412 0.947 0.5644 0.59 0.65 0.65 0.94 0.6039 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153189 NA NA 0.541977 0.888561 NA 0.703 NA 2.280523 1424 9 137686906 137686906 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs4072883 0.68 0.68 0.723 0.691693 0.5358 0.8284 0.5476 0.8616 0.5838 0.55 0.82 0.56 0.83 0.6113 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.901944 2.901944 NA 0.572558 0.830232 NA 0.717 NA 2.280342 1424 17 72939663 72939663 G A intronic OTOP3 NA NA NA intronic ENSG00000182938 NA NA NA NA NA 17q25.1 NA NA NA NA rs8069015 0.53 0.53 0.508 0.526558 0.5895 0.4911 0.6542 0.4115 0.5634 0.6 0.46 0.63 0.42 0.5637 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382543 NA NA 0.566744 0.452111 NA 0.522 NA 2.280056 1424 2 1437410 1437410 C T intronic TPO NA NA NA intronic ENSG00000115705 NA NA NA NA NA 2p25.3 NA NA NA NA rs4927578 0.49 0.49 0.457 0.4373 0.5547 0.6151 0.4986 0.2322 0.3671 0.58 0.6 0.52 0.21 0.5671 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279979 NA NA 0.599093 0.293463 NA 0.406 NA 2.279107 1424 14 57082648 57082648 A G intronic TMEM260 NA NA NA intronic ENSG00000070269 NA NA NA NA NA 14q22.3 NA NA NA NA rs2275024 0.55 0.55 0.571 0.597244 0.5666 0.4365 0.4179 0.8207 0.6196 0.57 0.4 0.45 0.77 0.5743 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.940169 1.940169 NA 0.581047 0.794825 NA 0.667 NA 2.278053 1424 20 45923383 45923383 G T intronic ZMYND8 NA NA NA intronic ENSG00000101040 NA NA NA NA NA 20q13.12 NA NA NA NA rs2076402 0.55 0.55 0.55 0.551518 0.5835 0.5625 0.487 0.5113 0.6074 0.59 0.57 0.51 0.52 0.5603 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478836 NA NA 0.579186 0.527916 NA 0.594 NA 2.277014 1424 7 150490431 150490431 C G intronic TMEM176B NA NA NA intronic ENSG00000106565 NA NA NA NA NA 7q36.1 NA NA NA NA rs2072442 0.55 0.55 0.529 0.53774 0.5825 0.6101 0.4568 0.4811 0.5511 0.56 0.65 0.46 0.48 0.5648 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206581 NA NA 0.576512 0.492283 NA 0.413 NA 2.276188 1424 21 31859677 31859677 G A upstream KRTAP19-2 NA NA NA UTR5 ENSG00000186965 ENST00000334055:c.-10C>T NA NA NA NA 21q22.11 NA NA NA NA rs6516970 0.53 0.53 0.519 0.553714 0.5716 0.3185 0.6383 0.6301 0.6145 0.55 0.33 0.64 0.65 0.5675 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.862456 NA NA 0.584767 0.607127 NA 0.645 NA 2.276133 1424 6 170597276 170597276 C T intronic DLL1 NA NA NA intronic ENSG00000198719 NA NA NA NA NA 6q27 NA NA NA NA rs2738822 0.41 0.41 0.383 0.396765 0.5974 0.0982 0.5288 0.3782 0.4294 0.59 0.07 0.56 0.41 0.5195 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177897 NA 0 0.607209 0.410123 NA 0.486 NA 2.275891 1425 16 81954789 81954789 C G intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs12446127 0.56 0.56 0.545 0.519768 0.5567 0.7788 0.7032 0.171 0.5562 0.57 0.79 0.66 0.22 0.5893 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.300872 NA NA 0.580464 0.220065 NA 0.601 NA 2.273536 1425 11 123504959 123504959 C G intronic SCN3B NA NA NA intronic ENSG00000166257 NA NA NA NA NA 11q24.1 NA NA NA NA rs1148110 0.71 0.71 0.743 0.750599 0.5467 0.7222 0.6225 0.972 0.7812 0.54 0.75 0.65 0.96 0.6276 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0967 NA NA 0.552338 0.896685 NA 0.674 NA 2.273362 1425 11 7847523 7847523 T A upstream OR5P3 NA NA NA ncRNA_intronic ENSG00000254951,ENSG00000271758 NA NA NA NA NA 11p15.4 NA NA NA NA rs1482794 0.49 0.49 0.435 0.444688 0.6282 0.4762 0.5937 0.0734 0.6196 0.66 0.5 0.61 0.13 0.5861 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429247 NA NA 0.679262 0.291862 NA 0.464 NA 2.2731046 1425 18 21400005 21400005 A C intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs7244406 0.39 0.39 0.376 0.345847 0.6093 0.2014 0.4063 0.2042 0.3722 0.61 0.2 0.46 0.22 0.4971 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123169 NA NA 0.621282 0.295478 NA 0.413 NA 2.272318 1425 17 72939446 72939446 C T intronic OTOP3 NA NA NA intronic ENSG00000182938 NA NA NA NA NA 17q25.1 NA NA NA NA rs4789110 0.54 0.54 0.519 0.541334 0.5905 0.4911 0.6571 0.4637 0.5654 0.6 0.46 0.64 0.47 0.5693 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828042 NA NA 0.568372 0.504539 NA 0.543 NA 2.271828 1425 9 73461558 73461558 G C intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs10868907 0.49 0.49 0.443 0.520767 0.5835 0.2738 0.5591 0.5885 0.592 0.58 0.24 0.59 0.57 0.5556 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695973 NA NA 0.589419 0.560372 NA 0.565 NA 2.271481 1425 3 125775428 125775428 G A UTR5 SLC41A3 NM_001008487:c.-33C>T NA NA UTR5 ENSG00000114544 ENST00000383598:c.-33C>T NA NA NA NA 3q21.2 NA NA NA NA rs6438964 0.65 0.65 0.636 0.64996 0.664 0.6627 0.6873 0.5719 0.7014 0.67 0.65 0.69 0.59 0.6908 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.331345 1.331345 NA 0.707093 0.579664 NA 0.681 NA 2.2714404 1425 12 88473049 88473049 C T intronic CEP290 NA NA NA intronic ENSG00000198707 NA NA NA NA NA 12q21.32 NA NA NA NA rs2468245 0.78 0.78 0.738 0.764577 0.9225 0.9673 0.8804 0.3253 0.9049 0.92 0.96 0.87 0.32 0.8841 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.255587 NA NA 0.922934 0.424491 NA 0.623 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114200.2;CLNDSDB=.;CLNDSDBID=. 2.270466 1425 15 60742063 60742063 G T intronic NARG2 NA NA NA intronic ENSG00000128915 NA NA NA NA NA 15q22.2 NA NA NA NA rs1869484 0.58 0.58 0.549 0.592452 0.5706 0.8214 0.6499 0.2511 0.7996 0.57 0.84 0.64 0.25 0.6184 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.469392 NA NA 0.541053 0.274179 NA 0.391 NA 2.269947 1425 9 126146197 126146197 C G intronic DENND1A NA NA NA intronic ENSG00000119522 NA NA NA Score=403;Name=lod=58 NA 9q33.3 NA NA NA NA rs2808411 0.9 0.9 0.902 0.88738 0.9205 0.9653 0.8703 0.8033 0.8988 0.92 0.96 0.88 0.81 0.8919 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147002 NA NA 0.918023 0.822288 NA 0.891 NA 2.269577 1425 16 56441862 56441862 A G intronic AMFR NA NA NA intronic ENSG00000159461 NA NA NA NA NA 16q12.2 NA NA NA NA rs2920704 0.64 0.64 0.669 0.699681 0.5527 0.6091 0.5663 0.8994 0.7689 0.56 0.6 0.56 0.86 0.6128 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491635 1.491635 NA 0.565 0.850318 NA 0.739 NA 2.2695 1425 3 12845158 12845158 G A intronic CAND2 NA NA NA intronic ENSG00000144712 NA NA NA NA NA 3p25.2 NA NA NA NA rs9835677 0.41 0.41 0.414 0.360224 0.6451 0.1796 0.4164 0.3268 0.2587 0.64 0.16 0.4 0.35 0.487 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324724 NA NA 0.598991 0.380822 NA 0.442 NA 2.268909 1425 13 111117745 111117745 C T intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs3803236 0.52 0.52 0.517 0.513978 0.5954 0.3006 0.5115 0.6702 0.4407 0.59 0.28 0.56 0.67 0.5383 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349845 NA NA 0.59769 0.648066 NA 0.551 NA 2.26861 1425 19 57954628 57954628 G A intronic ZNF749 NA NA NA intronic ENSG00000186230,ENSG00000268163 NA NA NA NA NA 19q13.43 NA NA NA NA rs7249430 0.59 0.59 0.572 0.597843 0.5547 0.7073 0.6369 0.4085 0.7577 0.56 0.77 0.58 0.45 0.6115 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241965 NA NA 0.565248 0.439146 NA 0.543 NA 2.268552 1425 2 219305404 219305404 G C intronic VIL1 NA NA NA intronic ENSG00000127831 NA NA NA NA NA 2q35 NA NA NA NA rs2305833 0.52 0.52 0.459 0.503794 0.5915 0.7698 0.5865 0.0651 0.6738 0.6 0.75 0.59 0.07 0.5648 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090328 NA NA 0.575698 0.160009 NA 0.355 NA 2.268002 1425 3 47539969 47539969 C T intronic ELP6 NA NA NA intronic ENSG00000163832 NA NA NA NA NA 3p21.31 NA NA NA NA rs13059519 0.48 0.48 0.446 0.458666 0.6034 0.4643 0.5202 0.239 0.5573 0.6 0.46 0.52 0.29 0.5408 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.138058 2.138058 NA 0.587882 0.275105 NA 0.536 NA 2.267918 1425 3 170885097 170885097 C T intronic TNIK NA NA NA intronic ENSG00000154310 NA NA NA NA NA 3q26.2 NA NA NA NA rs2292005 0.59 0.59 0.558 0.56869 0.5795 0.8532 0.5937 0.2965 0.6145 0.59 0.83 0.58 0.33 0.5825 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208831 NA NA 0.570135 0.325518 NA 0.471 NA 2.267865 1425 19 10165932 10165932 A G ncRNA_exonic C3P1 NA NA NA ncRNA_exonic ENSG00000167798 NA NA NA NA NA 19p13.2 NA NA NA NA rs8113341 0.8 0.8 0.82 0.800919 0.8082 0.5744 0.8242 0.9955 0.7474 0.82 0.62 0.81 0.99 0.7997 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214559 NA 0.69 0.79145 0.948463 NA 0.906 NA 2.2673166 1425 21 46078220 46078220 T C UTR3 KRTAP12-3 NM_198697:c.*33T>C NA NA UTR3 ENSG00000205439 ENST00000397907:c.*33T>C NA NA NA NA 21q22.3 NA NA NA NA rs9306112 0.72 0.72 0.701 0.740815 0.6998 0.6627 0.7104 0.82 0.7781 0.71 0.64 0.73 0.82 0.7046 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.323717 NA NA 0.661849 0.809642 NA 0.565 NA 2.2670844 1425 5 132039132 132039132 C A intronic KIF3A NA NA NA ncRNA_intronic ENSG00000230612 NA NA NA NA NA 5q31.1 NA NA NA NA rs2285700 0.47 0.47 0.477 0.477436 0.7177 0.1667 0.5159 0.3684 0.6708 0.71 0.17 0.57 0.37 0.6084 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.700187 NA NA 0.740689 0.404134 NA 0.638 NA 2.2665443 1425 16 55844617 55844617 G A intronic CES1 NA NA NA intronic ENSG00000198848 NA NA NA NA NA 16q12.2 NA NA NA NA rs2244614 0.41 0.41 0.364 0.364417 0.6133 0.1865 0.5317 0.2345 0.3487 0.62 0.19 0.56 0.24 0.5122 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975975 NA NA 0.609302 0.291856 NA 0.319 NA 2.265198 1426 3 172365619 172365619 G A intronic NCEH1 NA NA NA intronic ENSG00000144959 NA NA NA NA NA 3q26.31 NA NA NA NA rs9865941 0.56 0.56 0.579 0.592053 0.5537 0.5407 0.6153 0.6634 0.5716 0.53 0.49 0.61 0.66 0.5987 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11921 NA NA 0.582652 0.66763 NA 0.623 NA 2.264948 1426 1 1918488 1918488 A G intronic KIAA1751 NA NA NA downstream ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs4350140 0.61 0.61 0.639 0.630591 0.4831 0.5278 0.4467 0.9395 0.6012 0.48 0.56 0.5 0.95 0.5607 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.252085 NA NA 0.52503 0.877017 NA 0.659 NA 2.2645033 1426 2 138030271 138030271 G A intronic THSD7B NA NA NA intronic ENSG00000144229 NA NA NA NA NA 2q22.1 NA NA NA NA rs10182152 0.72 0.72 0.705 0.717053 0.5666 0.9583 0.6758 0.6687 0.7178 0.55 0.96 0.7 0.7 0.6237 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767388 NA NA 0.545577 0.656911 NA 0.674 NA 2.264123 1426 2 140992337 140992337 C A intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs13387241 0.47 0.47 0.456 0.467452 0.5934 0.5069 0.5288 0.3245 0.4468 0.55 0.51 0.5 0.29 0.5495 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.464176 2.464176 NA 0.59351 0.406945 NA 0.384 NA 2.26359 1426 1 38327982 38327982 G T UTR3 INPP5B NM_005540:c.*5C>A NA NA UTR3 ENSG00000204084 ENST00000373023:c.*5C>A,ENST00000373027:c.*5C>A,ENST00000373026:c.*5C>A,ENST00000373024:c.*5C>A NA NA NA NA 1p34.3 NA NA NA NA rs3843 0.57 0.57 0.543 0.525559 0.7266 0.4802 0.6009 0.3011 0.6155 0.74 0.52 0.59 0.34 0.6405 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653242 NA NA 0.703609 0.384368 NA 0.551 NA 2.2626244 1426 16 570454 570454 T C intronic RAB11FIP3 NA NA NA intronic ENSG00000090565 NA NA NA NA NA 16p13.3 NA NA NA NA rs11863276 0.76 0.76 0.745 0.791534 0.5398 0.9911 0.6902 0.8404 0.8507 0.56 0.99 0.68 0.84 0.6597 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.620708 NA NA 0.53814 0.768287 NA 0.543 NA 2.26236 1426 2 185798504 185798504 A C intronic ZNF804A NA NA NA intronic ENSG00000170396 NA NA NA NA NA 2q32.1 NA NA NA NA rs4667000 0.55 0.55 0.502 0.48722 0.5825 0.8244 0.6326 0.0582 0.5184 0.61 0.84 0.61 0.08 0.5788 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.088307 NA NA 0.576413 0.141201 NA 0.449 NA 2.262287 1426 2 9496291 9496291 T C intronic ASAP2 NA NA NA intronic ENSG00000151693 NA NA NA NA NA 2p25.1 NA NA NA NA rs2709591 0.53 0.53 0.532 0.570288 0.5785 0.1359 0.5317 0.938 0.5399 0.57 0.14 0.52 0.92 0.5601 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633655 NA NA 0.599419 0.87517 NA 0.594 NA 2.261981 1426 12 96387621 96387621 A G intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs2302629 0.56 0.56 0.59 0.579673 0.5835 0.497 0.3862 0.789 0.5153 0.6 0.46 0.4 0.75 0.5648 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846395 NA NA 0.590719 0.740118 NA 0.529 NA 2.260981 1426 16 3075999 3075999 C G intronic THOC6 NA NA NA intronic ENSG00000131652 NA NA NA NA NA 16p13.3 NA NA NA NA rs2245000 0.55 0.55 0.566 0.55611 0.5696 0.3046 0.5663 0.767 0.5092 0.56 0.31 0.58 0.79 0.5845 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735438 NA NA 0.585116 0.744086 NA 0.717 NA 2.260784 1426 2 201464295 201464295 T C intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs10179964 0.64 0.64 0.624 0.608626 0.5785 0.7401 0.5692 0.6392 0.4908 0.58 0.74 0.59 0.66 0.5755 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199236 NA NA 0.585233 0.602587 NA 0.703 NA 2.260767 1426 12 10746385 10746385 G A ncRNA_exonic KLRAP1 NA NA NA ncRNA_exonic ENSG00000256667 NA NA NA NA NA 12p13.2 NA NA NA NA rs2244387 0.86 0.86 0.851 0.866214 0.7783 0.9663 0.8646 0.8699 0.8497 0.77 0.97 0.84 0.88 0.8279 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241666 NA NA 0.799953 0.856332 NA 0.79 NA 2.2605136 1426 17 39726276 39726276 C A intronic KRT9 NA NA NA intronic ENSG00000171403 NA NA NA NA NA 17q21.2 NA NA NA NA rs3816510 0.66 0.66 0.631 0.663139 0.5616 0.9444 0.7161 0.444 0.7362 0.56 0.95 0.67 0.45 0.6289 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.7839 1.7839 NA 0.55 0.452565 NA 0.63 NA 2.2595 1426 3 100374740 100374740 T C intronic GPR128 NA NA NA intronic ENSG00000144820 NA NA NA NA NA 3q12.2 NA NA NA NA rs9866111 0.45 0.45 0.401 0.495008 0.5736 0.4266 0.6052 0.2186 0.7802 0.57 0.38 0.61 0.22 0.5726 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393562 NA NA 0.594673 0.263504 ID=COSM149437;OCCURENCE=1(stomach) 0.297 NA 2.259127 1426 9 117073006 117073006 C T downstream COL27A1 NA NA NA UTR3 ENSG00000196739 ENST00000356083:c.*31C>T,ENST00000494090:c.*3051C>T NA NA NA NA 9q32 NA NA NA NA rs1249756 0.64 0.64 0.652 0.641573 0.5586 0.6161 0.6931 0.7337 0.592 0.55 0.67 0.65 0.74 0.6038 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662516 NA NA 0.579651 0.704948 NA 0.623 NA 2.257949 1426 10 12126490 12126490 A T intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA NA NA NA rs11257527 0.46 0.46 0.451 0.482827 0.5915 0.4792 0.4669 0.2027 0.7648 0.59 0.48 0.49 0.23 0.5613 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257816 NA NA 0.589302 0.26305 NA 0.377 NA 2.257898 1426 5 33615904 33615904 G A intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs10057235 0.56 0.56 0.558 0.521965 0.6173 0.4415 0.5994 0.6165 0.3241 0.62 0.46 0.58 0.58 0.535 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560263 NA NA 0.59 0.618021 NA 0.558 NA 2.2577 1426 19 54197633 54197633 A G upstream MIR519B,MIR526B NA NA NA upstream ENSG00000207580,ENSG00000207825 NA NA NA NA NA 19q13.42 NA NA NA NA rs10413288 0.6 0.6 0.622 0.65016 0.4533 0.6448 0.5 0.9024 0.6237 0.45 0.64 0.48 0.88 0.517 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846021 NA NA 0.439001 0.834503 NA 0.71 NA 2.2573656 1426 1 95358096 95358096 A G intronic SLC44A3 NA NA NA intronic ENSG00000143036 NA NA NA NA NA 1p21.3 NA NA NA NA rs859063 0.5 0.5 0.469 0.452676 0.6014 0.4157 0.5144 0.3253 0.4663 0.6 0.45 0.56 0.38 0.5409 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360602 NA NA 0.600698 0.368815 NA 0.442 NA 2.257002 1426 15 99456253 99456253 T C intronic IGF1R NA NA NA intronic ENSG00000140443 NA NA NA NA NA 15q26.3 NA NA NA NA rs2272037 0.52 0.52 0.468 0.511182 0.5845 0.6746 0.6239 0.2141 0.589 0.58 0.68 0.6 0.19 0.5775 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.577606 NA NA 0.581685 0.249886 NA 0.572 NA 2.256315 1426 2 141528592 141528592 T C intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs7599219 0.89 0.89 0.873 NA NA NA NA NA NA 0.87 1 0.89 0.8 0.8727 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128305 NA NA 0.871279 0.774172 NA 0.862 NA 2.256021 1426 3 42448296 42448296 T C intronic LYZL4 NA NA NA intronic ENSG00000157093 NA NA NA NA NA 3p22.1 NA NA NA NA rs33518 0.61 0.61 0.62 0.597843 0.5815 0.4375 0.5231 0.9017 0.4223 0.59 0.43 0.53 0.9 0.5691 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281548 NA NA 0.593488 0.847708 NA 0.514 NA 2.255912 1426 1 212900487 212900487 A G UTR3 NSL1 NM_015471:c.*11263T>C,NM_001042549:c.*11552T>C NA NA exonic ENSG00000117697 NA synonymous SNV ENSG00000117697:ENST00000366978:exon5:c.T225C:p.V75V NA NA 1q32.3 NA NA NA NA rs2244935 0.92 0.92 0.928 0.909944 0.9155 0.8938 0.9611 0.907 0.8885 0.92 0.9 0.94 0.93 0.9154 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584978 NA NA 0.913317 0.916667 NA 0.942 NA 2.255783 1426 1 34071434 34071434 C T intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA rs1874044 0.54 0.54 0.485 0.527756 0.5755 0.5516 0.6873 0.3487 0.5828 0.58 0.58 0.66 0.35 0.5932 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140188 NA NA 0.576047 0.412165 NA 0.478 NA 2.255253 1427 2 182413602 182413602 A T intronic CERKL NA NA NA intronic ENSG00000188452 NA NA NA NA NA 2q31.3 NA NA NA NA rs13003064 0.58 0.58 0.56 0.647963 0.5447 0.621 0.6282 0.6127 0.8436 0.54 0.6 0.58 0.63 0.6181 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425823 NA NA 0.582326 0.614163 NA 0.616 NA 2.254874 1427 5 147554889 147554889 A C intronic SPINK14 NA NA NA intronic ENSG00000196800 NA NA NA NA NA 5q32 NA NA NA NA rs10052031 0.55 0.55 0.545 0.522963 0.6004 0.3998 0.4424 0.618 0.499 0.61 0.43 0.5 0.63 0.5815 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086303 NA NA 0.563751 0.593309 NA 0.645 NA 2.254349 1427 17 39724047 39724047 T C intronic KRT9 NA NA NA intronic ENSG00000171403 NA NA NA NA NA 17q21.2 NA NA NA NA rs1008753 0.66 0.66 0.633 0.666134 0.5626 0.9444 0.7205 0.4523 0.7362 0.56 0.95 0.68 0.46 0.6314 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049858 NA NA 0.552362 0.46362 NA 0.63 NA 2.253638 1427 2 179667090 179667090 C T intronic TTN NA NA NA intronic ENSG00000155657 NA NA NA NA NA 2q31.2 NA NA NA NA rs3816849 0.69 0.69 0.692 0.703474 0.5616 0.8571 0.6873 0.7262 0.6718 0.56 0.86 0.64 0.72 0.6475 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673344 NA NA 0.538372 0.721062 NA 0.681 NA 2.252528 1427 16 3097596 3097596 T A intronic MMP25 NA NA NA intronic ENSG00000008516 NA NA NA NA NA 16p13.3 NA NA NA NA rs3743936 0.56 0.56 0.593 0.565296 0.5666 0.3274 0.5677 0.7874 0.5072 0.55 0.33 0.58 0.8 0.5893 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820831 NA NA 0.592485 0.767548 NA 0.725 NA 2.251615 1427 15 62211450 62211450 G A intronic VPS13C NA NA NA intronic ENSG00000129003 NA NA NA NA NA 15q22.2 NA NA NA NA rs963024 0.64 0.64 0.646 0.673123 0.5706 0.7688 0.5879 0.6921 0.7147 0.57 0.76 0.54 0.69 0.6036 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418238 NA NA 0.5755 0.685429 NA 0.681 NA 2.2503 1427 6 42931261 42931261 C G intronic GNMT NA NA NA intronic ENSG00000124713 NA NA NA NA NA 6p21.1 NA NA NA NA rs2296804 0.61 0.61 0.633 0.647364 0.5885 0.3075 0.6095 0.9788 0.637 0.6 0.33 0.59 0.96 0.5897 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357754 NA NA 0.574419 0.914435 NA 0.732 NA 2.247381 1427 2 215928972 215928972 G C intronic ABCA12 NA NA NA intronic ENSG00000144452 NA NA NA NA NA 2q35 NA NA NA NA rs1523721 0.66 0.66 0.662 0.624201 0.5885 0.6627 0.5504 0.8177 0.4121 0.59 0.67 0.56 0.8 0.5776 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526728 NA NA 0.587695 0.751475 NA 0.623 NA 2.246205 1427 7 6084310 6084310 G T intronic EIF2AK1 NA NA NA intronic ENSG00000086232 NA NA NA NA NA 7p22.1 NA NA NA NA rs511969 0.6 0.6 0.617 0.582867 0.5984 0.4702 0.5879 0.7254 0.4867 0.59 0.5 0.59 0.71 0.5637 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910711 NA NA 0.591977 0.681798 NA 0.594 NA 2.245923 1427 11 46105688 46105688 G A intronic PHF21A NA NA NA intronic ENSG00000135365 NA NA NA NA NA 11p11.2 NA NA Name=4 NA rs2932515 0.92 0.92 0.916 0.908147 0.9125 0.998 0.9438 0.8283 0.8937 0.92 1 0.95 0.81 0.9207 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823287 NA NA 0.921493 0.839391 NA 0.848 NA 2.245307 1428 6 40399446 40399446 T C intronic LRFN2 NA NA NA intronic ENSG00000156564 NA NA NA NA NA 6p21.2 NA NA NA NA rs7775772 0.66 0.66 0.625 0.609824 0.5895 0.6825 0.6643 0.7572 0.318 0.59 0.69 0.63 0.73 0.5945 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.468159 NA NA 0.571279 0.727871 NA 0.696 NA 2.244721 1428 3 49365269 49365269 C T intronic USP4 NA NA NA intronic ENSG00000114316 NA NA NA NA NA 3p21.31 NA NA NA NA rs6795772 0.63 0.63 0.602 0.663339 0.5666 0.9296 0.6787 0.3616 0.8855 0.56 0.92 0.65 0.39 0.6302 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283515 NA NA 0.558605 0.405583 NA 0.514 NA 2.244595 1428 3 41939993 41939993 T A intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs1625226 0.8 0.8 0.896 0.698083 0.8012 0.7698 0.7781 0.5552 0.6544 0.84 0.89 0.87 0.6 0.9546 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715107 NA NA NA NA NA 0.862 NA 2.2442 1428 1 59158632 59158632 T C intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA NA NA 1p32.1 NA NA NA NA rs12097333 0.59 0.59 0.572 0.581869 0.5865 0.628 0.6369 0.4849 0.6217 0.59 0.62 0.65 0.49 0.5947 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.610543 1.610543 NA 0.574748 0.477994 NA 0.58 NA 2.244052 1428 12 52843666 52843666 G A intronic KRT6B NA NA NA intronic ENSG00000185479 NA NA NA NA NA 12q13.13 NA NA NA NA rs673602 0.59 0.59 0.607 0.619609 0.6233 0.6845 0.6916 0.6377 0.4734 0.54 0.72 0.63 0.5 0.5913 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.257354 1.257354 NA 0.542917 0.519065 NA 0.609 NA 2.242483 1428 11 6638506 6638506 A T intronic TPP1 NA NA NA intronic ENSG00000166340 NA NA NA NA NA 11p15.4 NA NA NA NA rs1800738 0.48 0.48 0.428 0.462061 0.6074 0.5575 0.5562 0.1422 0.5798 0.6 0.54 0.56 0.15 0.5494 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626209 NA NA 0.601257 0.201045 NA 0.377 NA 2.241943 1428 13 52511362 52511362 C G intronic ATP7B NA NA NA intronic ENSG00000123191 NA NA NA NA NA 13q14.3 NA NA NA NA rs9535795 0.52 0.52 0.52 0.531749 0.6034 0.4008 0.5836 0.5439 0.5399 0.59 0.4 0.6 0.51 0.5607 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268251 NA NA 0.595042 0.524974 NA 0.486 NA 2.240858 1428 2 228118403 228118403 T G ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs12621551 0.81 0.81 0.802 0.786941 0.8012 0.9187 0.8012 0.6248 0.8456 0.81 0.91 0.78 0.69 0.8128 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198081 NA NA 0.81208 0.689975 NA 0.717 NA 2.2405866 1428 9 139402663 139402663 T C intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs3124597 0.76 0.76 0.734 0.767173 0.5795 0.9137 0.6412 0.9576 0.6411 0.57 0.88 0.67 0.96 0.6351 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.092027 NA NA 0.544849 0.887422 NA 0.725 NA 2.240551 1428 1 227935355 227935355 T C intronic SNAP47 NA NA NA intronic ENSG00000143740 NA NA NA NA NA 1q42.13 NA NA NA NA rs2236360 0.73 0.73 0.732 0.746206 0.5567 0.7808 0.7089 0.9531 0.6524 0.56 0.78 0.7 0.96 0.6345 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861681 NA NA 0.56907 0.894916 NA 0.659 NA 2.23973 1428 10 119027123 119027123 C A intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363228 0.75 0.75 0.746 0.721845 0.8797 0.5962 0.7781 0.6536 0.7413 0.88 0.62 0.79 0.66 NA 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391382 NA NA 0.880578 0.692919 NA 0.826 NA 2.239722 1428 21 44449095 44449095 G A intronic PKNOX1 NA NA NA intronic ENSG00000160199 NA NA NA NA NA 21q22.3 NA NA NA NA rs234729 0.85 0.85 0.839 0.851438 0.8757 0.7431 0.7867 0.9448 0.8579 0.89 0.74 0.81 0.94 0.8846 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346497 NA NA NA NA NA 0.877 NA 2.2397 1428 5 176002926 176002926 C A intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA Name=TR4,AP-2gamma NA NA rs3762968 0.8 0.8 0.754 0.769768 0.9274 0.8403 0.8761 0.4924 0.8344 0.93 0.84 0.9 0.47 0.8906 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973788 NA NA 0.943256 0.564911 NA 0.638 NA 2.238744 1428 1 59139223 59139223 C G intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA NA NA 1p32.1 NA NA NA NA rs2064370 0.58 0.58 0.558 0.582069 0.5865 0.628 0.6383 0.4841 0.6227 0.58 0.62 0.64 0.48 0.5978 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597895 NA NA 0.577496 0.48955 ID=COSN163111;OCCURENCE=1(breast),1(lung) 0.58 NA 2.238204 1428 7 75185985 75185985 A G intronic HIP1 NA NA NA intronic ENSG00000127946 NA NA NA NA NA 7q11.23 NA NA NA NA rs794368 0.53 0.53 0.517 0.541134 0.6064 0.4504 0.5014 0.531 0.6094 0.6 0.42 0.52 0.56 0.5668 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.567866 NA NA 0.589419 0.526328 NA 0.652 NA 2.237381 1428 17 2598639 2598639 C G intronic CLUH NA NA NA intronic ENSG00000132361 NA NA NA NA NA 17p13.3 NA NA NA NA rs1003399 0.49 0.49 0.454 0.469848 0.5706 0.5327 0.6268 0.2065 0.546 0.58 0.54 0.62 0.21 0.5671 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036476 NA NA 0.625304 0.281009 NA 0.442 NA 2.236996 1428 2 118704503 118704503 A G intronic CCDC93 NA NA NA intronic ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs2303329 0.62 0.62 0.587 0.594249 0.5716 0.8591 0.7147 0.3094 0.6442 0.58 0.88 0.67 0.33 0.6176 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745409 NA NA 0.57407 0.396278 NA 0.478 NA 2.23673 1428 12 118520240 118520240 G A intronic VSIG10 NA NA NA intronic ENSG00000176834 NA NA NA NA NA 12q24.23 NA NA NA NA rs6490164 0.72 0.72 0.714 0.717851 0.5696 0.7004 0.7435 0.9644 0.5368 0.57 0.74 0.69 0.95 0.6227 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.905817 2.905817 NA 0.571028 0.905026 NA 0.645 NA 2.236672 1428 17 78969590 78969590 T C intronic CHMP6 NA NA NA intronic ENSG00000176108 NA NA NA NA NA 17q25.3 NA NA NA NA rs66738175 0.61 0.61 0.592 0.601438 0.5905 0.5079 0.6643 0.7065 0.5225 0.59 0.52 0.63 0.71 0.5888 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780651 NA NA 0.584186 0.681199 NA 0.71 NA 2.236514 1428 14 22038915 22038915 A G upstream OR10G3 NA NA NA upstream ENSG00000169208 NA NA NA NA NA 14q11.2 NA NA NA NA rs4982462 0.51 0.51 0.501 0.512181 0.4652 0.6667 0.6412 0.3442 0.5368 0.47 0.65 0.6 0.34 0.5058 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15464 NA NA 0.459713 0.356068 NA 0.507 NA 2.2359536 1428 20 33509275 33509275 G A intronic ACSS2 NA NA NA intronic ENSG00000131069 NA NA NA NA NA 20q11.22 NA NA NA NA rs3818273 0.47 0.47 0.477 0.510982 0.5706 0.4345 0.3501 0.4281 0.7546 0.59 0.42 0.41 0.4 0.5766 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.626836 2.626836 NA 0.617093 0.468452 NA 0.594 NA 2.235707 1429 1 6681744 6681744 C T UTR3 PHF13 NM_153812:c.*47C>T NA NA UTR3 ENSG00000116273 ENST00000377648:c.*47C>T NA NA NA NA 1p36.31 NA NA NA NA rs3747994 0.66 0.66 0.679 0.694688 0.7018 0.5784 0.6167 0.736 0.8067 0.68 0.6 0.64 0.71 0.6858 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.708247 NA NA 0.711592 0.715842 NA 0.768 NA 2.2341414 1429 17 42501692 42501692 C A intronic GPATCH8 NA NA NA intronic ENSG00000186566 NA NA NA NA NA 17q21.31 NA NA NA NA rs1869495 0.5 0.5 0.489 0.445487 0.6014 0.497 0.5807 0.233 0.4233 0.59 0.52 0.62 0.26 0.5427 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.97587 NA NA 0.62186 0.283477 NA 0.362 NA 2.23404 1429 15 33765761 33765761 A G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2245508 0.64 0.64 0.645 0.648562 0.5954 0.5119 0.6095 0.8986 0.5337 0.59 0.53 0.61 0.87 0.5828 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05005 NA NA 0.58827 0.853478 NA 0.688 NA 2.23353 1429 19 49632079 49632079 C A intronic PPFIA3 NA NA NA intronic ENSG00000177380 NA NA NA NA NA 19q13.33 NA NA NA NA rs4802565 0.57 0.57 0.593 0.597843 0.5765 0.253 0.572 0.9168 0.5624 0.58 0.25 0.63 0.9 0.5869 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.36345 3.36345 NA 0.603444 0.849704 NA 0.616 NA 2.233156 1429 18 29617255 29617255 T G intronic RNF125 NA NA NA ncRNA_intronic ENSG00000263917 NA NA NA NA NA 18q12.1 NA NA NA NA rs9947278 0.65 0.65 0.657 0.674321 0.7068 0.4216 0.647 0.8525 0.68 0.7 0.42 0.64 0.85 0.6839 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.13733 NA NA 0.709767 0.830912 NA 0.797 NA 2.2328663 1429 1 16358685 16358685 C G intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs6669935 0.7 0.7 0.713 0.686701 0.5915 0.9683 0.549 0.6566 0.6329 0.59 0.97 0.56 0.65 0.6088 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.053407 2.053407 NA 0.56714 0.643733 NA 0.623 NA 2.23256 1429 15 88423463 88423463 C T intronic NTRK3 NA NA NA intronic ENSG00000140538 NA NA NA NA NA 15q25.3 NA NA NA NA rs1560975 0.5 0.5 0.487 0.446885 0.6173 0.6081 0.5648 0.1528 0.4192 0.62 0.61 0.54 0.16 0.5421 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297568 NA NA 0.608048 0.22308 NA 0.558 NA 2.232552 1429 19 49519058 49519058 T C intronic RUVBL2 NA NA NA intronic ENSG00000183207 NA NA NA NA NA 19q13.33 NA NA NA NA rs749776 0.57 0.57 0.551 0.578275 0.5994 0.3383 0.6254 0.7405 0.5511 0.61 0.34 0.61 0.74 0.5883 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.888199 1.888199 NA 0.579981 0.721966 ID=COSN165864;OCCURENCE=1(NS) 0.688 NA 2.232319 1429 19 36113658 36113658 A G intronic HAUS5 NA NA NA intronic ENSG00000249115 NA NA NA NA NA 19q13.12 NA NA NA NA rs2285414 0.7 0.7 0.688 0.729233 0.5646 0.8095 0.7795 0.8306 0.6431 0.57 0.77 0.73 0.82 0.6367 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575493 NA NA 0.56689 0.784569 NA 0.754 NA 2.23181 1429 2 29419591 29419591 G T intronic ALK NA NA NA intronic ENSG00000171094 NA NA NA NA NA 2p23.2 NA NA NA NA rs1670284 0.43 0.43 0.416 0.420727 0.6024 0.2698 0.4265 0.3495 0.4816 0.59 0.27 0.47 0.35 0.5279 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714935 NA NA 0.638953 0.367453 NA 0.413 NA 2.230747 1429 13 113739518 113739518 G A intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs546818 0.47 0.47 0.462 0.468251 0.6054 0.2579 0.4942 0.441 0.5624 0.62 0.29 0.51 0.43 0.5573 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187049 NA NA 0.608539 0.45892 NA 0.471 NA 2.228761 1429 3 126208249 126208249 A C intronic UROC1 NA NA NA intronic ENSG00000159650 NA NA NA NA NA 3q21.3 NA NA NA NA rs777479 0.5 0.5 0.471 0.491613 0.6093 0.5873 0.4914 0.208 0.6554 0.61 0.6 0.52 0.22 0.5576 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176974 NA NA 0.605349 0.268271 NA 0.493 NA 2.227751 1429 1 117142531 117142531 G A intronic IGSF3 NA NA NA intronic ENSG00000143061 NA NA NA NA NA 1p13.1 NA NA NA NA rs631461 0.68 0.68 0.66 0.691094 0.6133 0.5635 0.6772 0.8442 0.7055 0.63 0.6 0.68 0.87 0.6012 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64899 NA NA 0.55792 0.753521 NA 0.406 NA 2.22758 1429 9 127733926 127733926 C T intronic SCAI NA NA NA intronic ENSG00000173611 NA NA NA NA NA 9q33.3 NA NA NA NA rs2289631 0.64 0.64 0.632 0.64996 0.5736 0.6389 0.6585 0.6702 0.7065 0.6 0.63 0.66 0.69 0.6276 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.100058 2.100058 NA 0.57176 0.667562 NA 0.63 NA 2.22704 1429 1 210856585 210856585 G T UTR3 KCNH1 NM_172362:c.*38C>A,NM_002238:c.*38C>A NA NA UTR3 ENSG00000143473 ENST00000271751:c.*38C>A,ENST00000367007:c.*38C>A NA NA NA NA 1q32.2 NA NA NA NA rs3135473 0.71 0.71 0.724 0.756789 0.6909 0.6617 0.6844 0.8744 0.8149 0.69 0.65 0.67 0.85 0.709 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184088 NA NA 0.706848 0.858671 NA 0.652 NA 2.2265854 1429 20 31688330 31688330 C T intronic BPIFB4 NA NA NA intronic ENSG00000186191 NA NA NA NA NA 20q11.21 NA NA NA NA rs11696310 0.48 0.48 0.501 0.477037 0.6044 0.247 0.5202 0.5348 0.4744 0.6 0.24 0.54 0.54 0.555 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288847 NA NA 0.61407 0.570359 NA 0.5 NA 2.22653 1429 22 18910307 18910307 G A intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA NA NA rs2008903 0.75 0.75 0.745 0.78095 0.5567 0.9702 0.6729 0.916 0.7106 0.54 0.96 0.65 0.91 0.64 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264691 NA NA 0.577147 0.863595 NA 0.739 NA 2.226153 1429 1 211452678 211452678 G A intronic RCOR3 NA NA NA intronic ENSG00000117625 NA NA NA NA NA 1q32.2 NA NA NA NA rs3767377 0.51 0.51 0.464 0.456669 0.5994 0.62 0.5764 0.1475 0.4744 0.6 0.63 0.6 0.16 0.5673 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259733 NA NA 0.607209 0.211076 NA 0.428 NA 2.226091 1429 22 18910301 18910301 A G intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA NA NA rs2008904 0.75 0.75 0.745 0.780751 0.5567 0.9692 0.6729 0.916 0.7106 0.54 0.96 0.65 0.91 0.6401 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638779 NA NA 0.577478 0.864049 NA 0.739 NA 2.225722 1429 4 66509194 66509194 T C intronic EPHA5 NA NA NA intronic ENSG00000145242 NA NA NA NA NA 4q13.1 NA NA NA NA rs4343775 0.59 0.59 0.567 0.576278 0.5785 0.5972 0.6556 0.5522 0.5286 0.58 0.55 0.66 0.58 0.5937 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.159494 NA NA 0.602214 0.572308 NA 0.551 NA 2.225586 1430 19 4037525 4037525 C T intronic PIAS4 NA NA NA intronic ENSG00000105229 NA NA NA NA NA 19p13.3 NA NA NA NA rs2305106 0.5 0.5 0.417 0.428514 0.5974 0.7034 0.549 0.0507 0.3967 0.6 0.72 0.54 0.06 0.5596 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.952804 NA NA 0.618476 0.13775 NA 0.203 NA 2.224524 1430 1 211447625 211447625 G A intronic RCOR3 NA NA NA intronic ENSG00000117625 NA NA NA NA NA 1q32.2 NA NA NA NA rs11580084 0.51 0.51 0.471 0.45607 0.5994 0.6171 0.5764 0.1475 0.4744 0.6 0.63 0.6 0.16 0.569 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.567885 NA NA 0.607442 0.210168 NA 0.435 NA 2.224158 1430 17 8390733 8390733 A G intronic MYH10 NA NA NA intronic ENSG00000133026,ENSG00000166579 NA NA NA NA NA 17p13.1 NA NA NA NA rs3826463 0.53 0.53 0.501 0.496605 0.6272 0.5724 0.5418 0.2844 0.5389 0.62 0.58 0.6 0.29 0.5619 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610113 NA NA 0.589884 0.328189 NA 0.507 NA 2.221016 1430 22 18910756 18910756 C G intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA NA NA rs2008878 0.76 0.76 0.777 0.790136 0.5567 0.9702 0.6787 0.947 0.7117 0.54 0.97 0.66 0.94 0.6504 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.381049 NA NA 0.573224 0.910405 NA 0.732 NA 2.219676 1430 16 4039141 4039141 A G intronic ADCY9 NA NA NA intronic ENSG00000162104 NA NA NA NA NA 16p13.3 NA NA Name=2 NA rs2072341 0.87 0.87 0.865 0.873802 0.9235 0.7986 0.938 0.8351 0.907 0.92 0.8 0.91 0.84 0.9203 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342053 NA NA 0.93686 0.85594 NA 0.899 NA 2.21934 1430 3 111785208 111785208 G A intronic TMPRSS7 NA NA NA intronic ENSG00000176040 NA NA NA NA NA 3q13.2 NA NA NA NA rs11715561 0.53 0.53 0.505 0.485224 0.6193 0.5268 0.585 0.2958 0.4898 0.63 0.57 0.55 0.29 0.5653 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249307 NA NA 0.596205 0.320275 NA 0.464 NA 2.219195 1430 2 219501133 219501133 G A intronic PLCD4 NA NA NA intronic ENSG00000115556 NA NA NA NA NA 2q35 NA NA NA NA rs2278530 0.6 0.6 0.575 0.608027 0.5954 0.8214 0.6095 0.4047 0.6748 0.6 0.79 0.61 0.36 0.6018 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824233 NA 0.77 0.583772 0.500486 NA 0.486 NA 2.219028 1430 17 78970779 78970779 G C intronic CHMP6 NA NA NA intronic ENSG00000176108 NA NA NA NA NA 17q25.3 NA NA NA NA rs12951796 0.65 0.65 0.662 0.651158 0.5915 0.501 0.6801 0.8911 0.5225 0.59 0.51 0.65 0.92 0.605 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.827126 NA NA 0.584767 0.862006 NA 0.775 NA 2.218733 1430 14 58056257 58056257 G T intronic SLC35F4 NA NA NA intronic ENSG00000151812 NA NA NA NA NA 14q22.3 NA NA NA NA rs1190313 0.66 0.66 0.636 0.663938 0.5954 0.8819 0.5086 0.6362 0.6575 0.59 0.88 0.52 0.61 0.6141 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.377937 3.377937 NA 0.572225 0.63775 NA 0.674 NA 2.218275 1430 12 66814466 66814466 C G intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA NA NA NA rs7397861 0.4 0.4 0.371 0.390375 0.6123 0.3244 0.513 0.0832 0.5583 0.61 0.33 0.49 0.1 0.5532 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.213186 NA NA 0.616288 0.162045 NA 0.442 NA 2.218212 1430 13 31903834 31903834 G T UTR3 B3GALTL NM_194318:c.*29G>T NA NA UTR3 ENSG00000187676 ENST00000343307:c.*29G>T NA NA NA NA 13q12.3 NA NA NA NA rs1060709 0.52 0.52 0.494 0.487021 0.7306 0.3919 0.6182 0.2345 0.5828 0.73 0.4 0.65 0.22 0.6399 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160398 NA NA 0.745116 0.294144 NA 0.413 NA 2.2177174 1430 1 11128654 11128654 G A intronic EXOSC10 NA NA NA ncRNA_exonic ENSG00000226849 NA NA NA NA NA 1p36.22 NA NA NA NA rs2791655 0.64 0.64 0.599 0.590256 0.7227 0.7827 0.7406 0.202 0.6738 0.73 0.81 0.73 0.23 0.6805 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020395 NA NA 0.712442 0.281661 NA 0.587 NA 2.2176913 1430 17 78972864 78972864 T C intronic CHMP6 NA NA NA intronic ENSG00000176108 NA NA NA NA NA 17q25.3 NA NA NA NA rs11870458 0.65 0.65 0.665 0.659545 0.5915 0.504 0.6816 0.9206 0.5215 0.59 0.51 0.65 0.92 0.6058 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58317 NA NA 0.585233 0.863822 NA 0.775 NA 2.217467 1430 7 100816527 100816527 A G intronic NAT16 NA NA NA intronic ENSG00000167011 NA NA NA NA NA 7q22.1 NA Name=SUZ12,HA-E2F1 NA NA rs2009973 0.94 0.94 0.926 0.949681 0.9304 0.9206 0.964 0.9924 0.9315 0.92 0.91 0.96 0.99 0.9289 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019469 NA NA 0.923256 0.981381 NA 0.92 NA 2.217444 1430 5 108691738 108691738 A T intronic PJA2 NA NA NA intronic ENSG00000198961 NA NA NA NA NA 5q21.3 NA NA NA NA rs2431253 0.41 0.41 0.408 0.378794 0.5825 0.0575 0.4741 0.3177 0.5153 0.66 0.05 0.52 0.36 0.5557 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035217 NA NA 0.644419 0.406222 NA 0.457 NA 2.217381 1430 11 64596916 64596916 C T intronic CDC42BPG NA NA NA intronic ENSG00000171219 NA NA NA NA NA 11q13.1 NA NA NA NA rs10897529 0.38 0.38 0.381 0.357428 0.6133 0.0536 0.3818 0.3185 0.4427 0.62 0.06 0.44 0.33 0.5114 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141092 NA NA 0.657962 0.375626 NA 0.507 NA 2.217338 1430 12 125438414 125438414 A G intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs12367953 0.63 0.63 0.552 0.65655 0.5994 0.8472 0.6571 0.4463 0.8027 0.59 0.84 0.64 0.43 0.6421 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300853 NA NA 0.541186 0.391464 NA 0.341 NA 2.217314 1430 2 74129474 74129474 T C intronic ACTG2 NA NA NA intronic ENSG00000163017 NA NA NA NA NA 2p13.1 NA NA NA NA rs1726025 0.57 0.57 0.522 0.562899 0.6133 0.5188 0.7147 0.4947 0.5409 0.63 0.5 0.67 0.51 0.5897 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994527 NA NA 0.579767 0.512029 NA 0.471 NA 2.217233 1430 2 160889673 160889673 G A intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs2203053 0.51 0.51 0.495 0.448682 0.6133 0.5685 0.4135 0.2935 0.3906 0.61 0.55 0.46 0.34 0.5439 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.360957 2.360957 NA 0.625698 0.352928 NA 0.478 NA 2.217102 1430 6 34026938 34026938 C T intronic GRM4 NA NA NA intronic ENSG00000124493 NA NA NA Score=383;Name=lod=48 NA 6p21.31 NA NA NA NA rs2451359 0.96 0.96 0.973 0.967252 0.9185 0.994 0.9712 0.9985 0.9448 0.92 1 0.95 1 0.9386 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02359 NA NA 0.926111 0.987063 NA 0.986 NA 2.216789 1430 1 175097331 175097331 G A intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs10912891 0.47 0.47 0.46 0.407548 0.6223 0.3581 0.428 0.3086 0.3569 0.64 0.37 0.44 0.33 0.5397 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294301 NA NA 0.621512 0.335225 NA 0.384 NA 2.216488 1430 12 10015082 10015082 G A intronic CLEC2B NA NA NA intronic ENSG00000110852 NA NA NA NA NA 12p13.31 NA NA NA NA rs253147 0.6 0.6 0.621 0.614018 0.6113 0.4871 0.4957 0.8185 0.5552 0.61 0.45 0.52 0.8 0.5949 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191707 NA NA 0.578012 0.788629 NA 0.674 NA 2.215788 1430 14 90729984 90729984 C T intronic PSMC1 NA NA NA intronic ENSG00000100764 NA NA NA NA NA 14q32.11 NA NA NA NA rs8015510 0.53 0.53 0.487 0.52516 0.6014 0.4812 0.6398 0.3918 0.591 0.59 0.48 0.61 0.42 0.5882 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610657 NA NA 0.594789 0.402955 NA 0.5 NA 2.215611 1430 8 121293331 121293331 G A intronic COL14A1 NA NA NA intronic ENSG00000187955 NA NA NA NA NA 8q24.12 NA NA NA NA rs1563388 0.64 0.64 0.667 0.653954 0.5785 0.5794 0.598 0.8797 0.5429 0.57 0.59 0.62 0.85 0.6021 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752582 NA NA 0.603953 0.838783 NA 0.58 NA 2.215447 1431 22 44364594 44364594 C T intronic SAMM50 NA NA NA intronic ENSG00000100347 NA NA NA NA NA 22q13.31 NA NA NA NA rs5764434 0.72 0.72 0.717 0.72504 0.5964 0.8155 0.6239 0.7912 0.7464 0.61 0.84 0.6 0.82 0.6259 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780535 NA NA 0.563256 0.755334 NA 0.725 NA 2.214444 1431 8 22442287 22442287 A G intronic PDLIM2 NA NA NA intronic ENSG00000120913 NA NA NA NA NA 8p21.3 NA NA NA NA rs4872003 0.56 0.56 0.542 0.577077 0.6044 0.4603 0.6513 0.5809 0.6115 0.6 0.47 0.61 0.58 0.5941 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103065 NA NA 0.588837 0.587608 NA 0.558 NA 2.212663 1431 1 150997940 150997940 T C intronic PRUNE NA NA NA intronic ENSG00000143363 NA NA NA NA NA 1q21.3 NA NA NA NA rs3738478 0.53 0.53 0.555 0.510583 0.6302 0.4276 0.487 0.4818 0.5286 0.63 0.45 0.54 0.47 0.5555 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857398 NA NA 0.60186 0.510667 NA 0.609 NA 2.21244 1431 2 75113572 75113572 G A intronic HK2 NA NA NA intronic ENSG00000159399 NA NA NA NA NA 2p12 NA NA NA NA rs2306806 0.51 0.51 0.501 0.485224 0.6213 0.4454 0.4741 0.3169 0.6217 0.62 0.47 0.52 0.37 0.5618 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213369 NA NA 0.606163 0.36995 ID=COSN166144;OCCURENCE=1(NS) 0.449 NA 2.210737 1431 17 66447073 66447073 T C intronic WIPI1 NA NA NA ncRNA_intronic ENSG00000267009 NA NA NA NA NA 17q24.2 NA NA NA NA rs2302783 0.65 0.65 0.645 0.657947 0.7217 0.5317 0.6412 0.6505 0.7444 0.74 0.56 0.64 0.65 0.6888 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38085 NA NA 0.712791 0.639582 NA 0.703 NA 2.2100423 1431 2 197065964 197065964 C A UTR3 HECW2 NM_020760:c.*37G>T NA NA UTR3 ENSG00000138411 ENST00000260983:c.*37G>T,ENST00000409111:c.*37G>T NA NA NA NA 2q32.3 NA NA NA NA rs3820908 0.71 0.71 0.673 0.715655 0.7028 0.8294 0.7666 0.5719 0.7699 0.7 0.84 0.73 0.58 0.7188 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.409127 NA NA 0.70214 0.576487 NA 0.63 NA 2.2095934 1431 13 111154160 111154160 G A intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs2281968 0.47 0.47 0.467 0.508387 0.6044 0.3839 0.4942 0.4236 0.6626 0.59 0.34 0.5 0.42 0.5717 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160583 NA NA 0.6151 0.506893 NA 0.623 NA 2.2088 1431 12 51752897 51752897 G A intronic GALNT6 NA NA NA intronic ENSG00000139629 NA NA NA NA NA 12q13.13 NA NA NA NA rs907347 0.45 0.45 0.447 0.451478 0.6143 0.1815 0.4193 0.5802 0.411 0.6 0.15 0.44 0.57 0.5372 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732833 NA NA 0.640349 0.605084 ID=COSN164247;OCCURENCE=1(breast) 0.558 NA 2.208151 1431 3 52867595 52867595 C A intronic MUSTN1,TMEM110-MUSTN1 NA NA NA intronic ENSG00000243696,ENSG00000248592 NA NA NA NA NA 3p21.1 NA NA NA NA rs60332615 0.5 0.5 0.49 0.490016 0.5944 0.628 0.4409 0.2912 0.544 0.59 0.57 0.43 0.34 0.5801 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745324 NA NA 0.61738 0.363182 NA 0.507 NA 2.20812 1431 2 170492584 170492584 T C intronic PPIG NA NA NA intronic ENSG00000138398 NA NA NA NA NA 2q31.1 NA NA NA NA rs2290008 0.64 0.64 0.646 0.653954 0.5706 0.6091 0.5173 0.8169 0.6626 0.57 0.64 0.58 0.79 0.6223 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976419 NA NA 0.601512 0.775557 ID=COSN166328;OCCURENCE=1(breast) 0.681 NA 2.205588 1431 21 47616080 47616080 G A intronic LSS NA NA NA intronic ENSG00000160285 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839140 0.59 0.59 0.607 0.58127 0.6123 0.6825 0.4957 0.5401 0.5613 0.61 0.72 0.49 0.49 0.5847 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.413271 NA NA 0.597442 0.537676 NA 0.681 NA 2.205558 1432 12 68719216 68719216 G A UTR3 MDM1 NM_020128:c.*1050C>T,NM_001205029:c.*1998C>T NA NA UTR3 ENSG00000111554 ENST00000393543:c.*1998C>T,ENST00000430606:c.*1050C>T NA NA NA NA 12q15 NA NA NA NA rs2870812 0.68 0.68 0.693 0.678315 0.7177 0.4484 0.7378 0.823 0.637 0.71 0.47 0.75 0.84 0.6975 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283012 NA NA 0.713721 0.803223 NA 0.659 NA 2.2044124 1432 17 67099129 67099129 A G intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.2 NA NA NA NA rs2364315 0.41 0.41 0.381 0.430911 0.6153 0.3185 0.5346 0.1974 0.5992 0.61 0.26 0.49 0.19 0.5602 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749354 NA NA 0.621584 0.286105 NA 0.391 NA 2.202916 1432 5 147510776 147510776 T C intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs6895434 0.51 0.51 0.483 0.509185 0.5924 0.4821 0.6398 0.3903 0.5194 0.56 0.46 0.59 0.43 0.5888 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008628 NA NA 0.61593 0.434417 NA 0.478 NA 2.20287 1432 1 175355128 175355128 C G intronic TNR NA NA NA intronic ENSG00000116147 NA NA NA NA NA 1q25.1 NA NA NA NA rs859436 0.64 0.64 0.641 0.652157 0.5726 0.7252 0.7363 0.6104 0.6554 0.56 0.7 0.69 0.64 0.6291 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.685807 NA NA 0.595581 0.639355 NA 0.696 NA 2.202719 1432 18 66513662 66513662 T C intronic CCDC102B NA NA NA intronic ENSG00000150636 NA NA NA NA NA 18q22.1 NA NA NA NA rs1977942 0.55 0.55 0.571 0.55611 0.5915 0.3562 0.5259 0.6657 0.5992 0.6 0.37 0.54 0.68 0.5941 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677663 NA NA 0.61186 0.656449 NA 0.529 NA 2.20254 1432 8 121309862 121309862 A T intronic COL14A1 NA NA NA intronic ENSG00000187955 NA NA NA NA NA 8q24.12 NA NA NA NA rs2219241 0.66 0.66 0.661 0.670527 0.5795 0.5784 0.6095 0.9365 0.5429 0.57 0.59 0.63 0.92 0.6146 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281968 NA NA 0.603396 0.887778 NA 0.449 NA 2.202504 1432 6 160234625 160234625 G C intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA NA NA 6q25.3 NA NA NA NA rs13220869 0.58 0.58 0.553 0.595447 0.5885 0.5367 0.6801 0.5832 0.6196 0.58 0.54 0.65 0.57 0.6033 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576325 NA NA 0.606163 0.56355 ID=COSM150212;OCCURENCE=1(stomach) 0.732 NA 2.202037 1432 22 25714113 25714113 A G upstream IGLL3P NA NA NA upstream ENSG00000206066 NA NA NA NA NA 22q11.23 NA NA NA NA rs2330574 0.39 0.39 0.344 0.374201 0.5139 0.0734 0.2896 0.5809 0.3211 0.53 0.08 0.34 0.57 0.445 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731415 NA NA 0.506163 0.557273 ID=COSM149269;OCCURENCE=1(stomach) 0.507 NA 2.2016036 1432 21 47639492 47639492 C G intronic LSS NA NA NA intronic ENSG00000160285 NA NA NA NA NA 21q22.3 NA NA NA NA rs2277826 0.56 0.56 0.543 0.51897 0.6302 0.6716 0.4669 0.3139 0.5613 0.63 0.71 0.48 0.31 0.5756 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089056 NA NA 0.592791 0.338783 NA 0.659 NA 2.201409 1432 5 73160730 73160730 G A intronic ARHGEF28 NA NA NA intronic ENSG00000214944 NA NA NA NA NA 5q13.2 NA NA NA NA rs1014550 0.67 0.67 0.682 0.703874 0.5815 0.5813 0.6138 0.9652 0.6667 0.58 0.55 0.63 0.95 0.6285 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147104 NA NA 0.589 0.914195 NA 0.659 NA 2.201 1432 12 52884557 52884557 T C intronic KRT6A NA NA NA intronic ENSG00000205420 NA NA NA NA NA 12q13.13 NA NA NA NA rs298120 0.67 0.67 0.659 0.611621 0.6183 0.6875 0.6873 0.6241 0.456 0.61 0.77 0.68 0.63 0.5871 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485543 NA NA 0.59407 0.589424 NA 0.746 NA 2.20053 1432 7 140082363 140082363 G A UTR5 SLC37A3 NM_207113:c.-37C>T,NM_032295:c.-37C>T NA NA UTR5 ENSG00000157800 ENST00000477571:c.-37C>T,ENST00000326232:c.-37C>T,ENST00000447932:c.-37C>T,ENST00000340308:c.-37C>T,ENST00000429996:c.-37C>T,ENST00000490760:c.-37C>T,ENST00000469193:c.-37C>T,ENST00000462881:c.-37C>T,ENST00000491505:c.-37C>T NA NA NA NA 7q34 NA NA NA NA rs6968618 0.74 0.74 0.735 0.764577 0.6839 0.8056 0.7954 0.7284 0.8323 0.69 0.82 0.79 0.71 0.7442 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702433 NA NA 0.704767 0.740354 NA 0.783 NA 2.2004664 1432 9 94485928 94485928 C T UTR3 ROR2 NM_004560:c.*16G>A NA NA UTR3 ENSG00000169071 ENST00000375708:c.*16G>A NA NA NA NA 9q22.31 NA NA NA NA rs2230578 0.79 0.79 0.772 0.757388 0.7078 0.9137 0.7882 0.7799 0.5951 0.72 0.93 0.76 0.78 0.7314 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.123821 NA NA 0.693695 0.77054 NA 0.761 NA 2.2004384 1432 4 44699506 44699506 C T intronic GUF1 NA NA NA intronic ENSG00000151806 NA NA NA NA NA 4p12 NA NA NA NA rs6821295 0.47 0.47 0.446 0.440096 0.6014 0.4018 0.5202 0.289 0.4611 0.62 0.4 0.53 0.29 0.5625 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327068 NA NA 0.635908 0.347115 ID=COSN167190;OCCURENCE=1(large_intestine) 0.601 NA 2.200192 1432 4 44699484 44699484 T G intronic GUF1 NA NA NA intronic ENSG00000151806 NA NA NA NA NA 4p12 NA NA NA NA rs6851576 0.47 0.47 0.448 0.440096 0.6014 0.4018 0.5202 0.289 0.4611 0.62 0.4 0.53 0.29 0.5622 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408467 1.408467 NA 0.636268 0.34673 ID=COSN167189;OCCURENCE=4(large_intestine) 0.601 NA 2.200132 1432 19 33134425 33134425 G A intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs259229 0.4 0.4 0.37 0.370008 0.6193 0.252 0.4654 0.1573 0.455 0.62 0.27 0.5 0.15 0.5346 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887942 NA NA 0.646279 0.229233 NA 0.406 NA 2.199821 1432 6 76022082 76022082 A G intronic FILIP1 NA NA NA intronic ENSG00000118407 NA NA NA NA NA 6q14.1 NA NA NA NA rs9352202 0.55 0.55 0.539 0.580671 0.5984 0.4613 0.5605 0.6006 0.6728 0.6 0.42 0.58 0.59 0.5903 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969204 NA NA 0.611512 0.565138 NA 0.674 NA 2.199788 1432 3 53133526 53133526 A G intronic RFT1 NA NA NA intronic ENSG00000163933 NA NA NA NA NA 3p21.1 NA NA NA NA rs2581829 0.56 0.56 0.538 0.521166 0.6183 0.747 0.598 0.2194 0.5419 0.61 0.73 0.6 0.27 0.5903 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.569025 1.569025 NA 0.591744 0.296641 NA 0.529 NA 2.199656 1432 4 3029588 3029588 G A intronic GRK4 NA NA NA intronic ENSG00000125388 NA NA NA NA NA 4p16.3 NA NA NA NA rs2857844 0.51 0.51 0.473 0.518171 0.6044 0.6895 0.4986 0.143 0.774 0.61 0.69 0.53 0.15 0.5898 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305219 NA NA 0.606744 0.224013 NA 0.464 NA 2.199056 1432 22 25714110 25714110 T C upstream IGLL3P NA NA NA upstream ENSG00000206066 NA NA NA NA NA 22q11.23 NA NA NA NA rs2064141 0.39 0.39 0.347 0.374401 0.5139 0.0734 0.2882 0.5825 0.3211 0.53 0.08 0.34 0.57 0.4457 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932853 NA NA 0.508258 0.561136 ID=COSM149268;OCCURENCE=1(stomach) 0.507 NA 2.1988086 1432 10 11316987 11316987 G A intronic CELF2 NA NA NA intronic ENSG00000048740 NA NA NA NA NA 10p14 NA NA NA NA rs2244573 0.44 0.44 0.449 0.426318 0.6272 0.2123 0.4222 0.4342 0.4325 0.63 0.22 0.43 0.43 0.532 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904643 NA NA 0.642756 0.474636 NA 0.601 NA 2.198044 1432 15 25334086 25334086 T C upstream;downstream SNORD116-22;SNORD116-21 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs3863396 0.66 0.66 0.663 0.634984 0.659 0.502 0.6801 0.8298 0.4519 0.67 0.49 0.7 0.8 0.6403 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471721 NA NA 0.669432 0.80879 NA 0.667 NA 2.1979346 1432 12 52944060 52944060 T C intronic KRT71 NA NA NA intronic ENSG00000139648 NA NA NA NA NA 12q13.13 NA NA NA NA rs10747643 0.62 0.62 0.565 0.571885 0.6024 0.8085 0.7147 0.3132 0.545 0.6 0.81 0.72 0.36 0.599 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844956 NA NA 0.600698 0.33182 NA 0.572 NA 2.197902 1432 20 33533736 33533736 A C intronic GSS NA NA NA intronic ENSG00000100983 NA NA NA NA NA 20q11.22 NA NA NA NA rs734111 0.6 0.6 0.624 0.664337 0.5686 0.4425 0.4035 0.972 0.7607 0.58 0.43 0.46 0.93 0.6196 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101652 NA NA 0.61407 0.883568 NA 0.761 NA 2.19773 1432 10 49392575 49392575 C G intronic FRMPD2 NA NA NA intronic ENSG00000170324 NA NA NA NA NA 10q11.22 NA NA NA NA rs931743 0.58 0.58 0.6 0.533746 0.6282 0.4623 0.4784 0.6475 0.3957 0.63 0.45 0.55 0.66 0.5694 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835602 NA NA 0.604884 0.636632 NA 0.659 NA 2.197516 1432 1 160803802 160803802 A G intronic CD244 NA NA NA intronic ENSG00000122223 NA NA NA NA NA 1q23.3 NA NA NA NA rs11265493 0.51 0.51 0.479 0.503195 0.6044 0.4583 0.598 0.3449 0.592 0.61 0.47 0.57 0.37 0.5865 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324174 NA NA 0.611744 0.374489 NA 0.572 NA 2.197356 1432 9 135601354 135601354 T C intronic AK8 NA NA NA intronic ENSG00000165695 NA NA NA NA NA 9q34.13 NA NA NA NA rs396819 0.65 0.65 0.617 0.653954 0.6133 0.506 0.7507 0.7829 0.6053 0.61 0.55 0.72 0.79 0.6226 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163072 NA NA 0.568488 0.751475 NA 0.652 NA 2.195612 1432 11 22391534 22391534 G A intronic SLC17A6 NA NA NA intronic ENSG00000091664 NA NA NA NA NA 11p14.3 NA NA NA NA rs2665677 0.62 0.62 0.582 0.61901 0.5885 0.5526 0.6816 0.6785 0.5941 0.6 0.56 0.68 0.66 0.6077 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054604 NA NA 0.608584 0.633015 NA 0.486 NA 2.195216 1433 9 130221388 130221388 T C intronic LRSAM1 NA NA NA intronic ENSG00000148356 NA NA NA NA NA 9q33.3 NA NA NA NA rs2243767 0.57 0.57 0.544 0.557109 0.6322 0.4067 0.6499 0.6082 0.5 0.64 0.41 0.61 0.61 0.5872 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344521 NA NA 0.586163 0.640717 NA 0.464 NA 2.194437 1433 12 119937983 119937983 A C intronic CCDC60 NA NA NA ncRNA_intronic ENSG00000248636 NA NA NA NA NA 12q24.23 NA NA NA NA rs482802 0.81 0.81 0.825 0.824481 0.7097 0.8651 0.7882 0.9289 0.7853 0.7 0.88 0.78 0.93 0.7497 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157018 NA NA 0.679651 0.888334 NA 0.826 NA 2.1942823 1433 12 66814487 66814487 C A intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA NA NA NA rs7397862 0.43 0.43 0.398 0.422324 0.6123 0.3244 0.5259 0.1974 0.5583 0.61 0.33 0.51 0.22 0.5616 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119762 NA NA 0.632004 0.276059 NA 0.464 NA 2.194096 1433 11 102584607 102584607 T C intronic MMP8 NA NA NA intronic ENSG00000118113 NA NA NA NA NA 11q22.2 NA NA NA NA rs2509013 0.64 0.64 0.629 0.640974 0.6083 0.6538 0.598 0.6959 0.6176 0.58 0.66 0.6 0.72 0.6138 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819109 NA NA 0.584322 0.685202 NA 0.696 NA 2.193578 1433 10 27368126 27368126 A C intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs3737055 0.43 0.43 0.381 0.398363 0.5994 0.4415 0.4971 0.1316 0.4376 0.59 0.39 0.53 0.15 0.5637 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.905494 NA NA 0.643455 0.228031 NA 0.399 NA 2.193445 1433 6 86199329 86199329 G C intronic NT5E NA NA NA intronic ENSG00000135318 NA NA NA NA NA 6q14.3 NA NA NA NA rs9450284 0.57 0.57 0.522 0.578874 0.6133 0.5456 0.7608 0.3956 0.6963 0.61 0.55 0.77 0.39 0.6116 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149399 NA NA 0.582791 0.410576 NA 0.674 NA 2.192309 1433 5 140955777 140955777 C T intronic DIAPH1 NA NA NA intronic ENSG00000131504 NA NA NA NA NA 5q31.3 NA NA NA NA rs2302103 0.6 0.6 0.594 0.640974 0.5755 0.3452 0.6916 0.885 0.6472 0.6 0.35 0.69 0.85 0.626 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199452 NA NA 0.606404 0.845968 NA 0.652 NA 2.192096 1433 12 56093817 56093817 T G intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs11171660 0.77 0.77 0.765 0.809105 0.5646 0.9375 0.7262 0.9546 0.7904 0.57 0.93 0.69 0.95 0.6811 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.544687 NA NA 0.562558 0.896051 NA 0.783 NA 2.191742 1433 14 30047580 30047580 C T ncRNA_intronic MIR548AI NA NA NA intronic ENSG00000184304 NA NA NA NA NA 14q12 NA NA NA NA rs2273815 0.65 0.65 0.67 0.626398 0.7097 0.5387 0.6412 0.7156 0.5 0.71 0.53 0.64 0.72 0.6894 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148502 NA NA 0.743488 0.70699 NA 0.768 NA 2.1907453 1433 19 33703706 33703706 A G intronic SLC7A10 NA NA NA intronic ENSG00000130876 NA NA NA NA NA 19q13.11 NA NA NA NA rs11673535 0.45 0.45 0.453 0.446286 0.6362 0.1657 0.3746 0.5522 0.4479 0.63 0.14 0.43 0.56 0.5349 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230728 NA NA 0.638605 0.535633 NA 0.572 NA 2.190295 1433 7 813650 813650 G A intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA NA NA NA rs62432869 0.63 0.63 0.613 0.636581 0.6054 0.62 0.6671 0.621 0.6851 0.59 0.63 0.64 0.67 0.6128 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179866 NA NA 0.592326 0.601906 NA 0.572 NA 2.189474 1433 8 52412226 52412226 G T intronic PXDNL NA NA NA intronic ENSG00000147485 NA NA NA NA NA 8q11.22 NA NA NA NA rs755311 0.48 0.48 0.443 0.453275 0.6173 0.621 0.5706 0.0923 0.5164 0.61 0.61 0.56 0.08 0.5731 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.989017 NA NA 0.62066 0.177061 NA 0.565 NA 2.18894 1433 9 79259850 79259850 A G intronic PRUNE2 NA NA NA intronic ENSG00000106772 NA NA NA NA NA 9q21.2 NA NA NA NA rs512951 0.62 0.62 0.61 0.648163 0.5736 0.622 0.6628 0.6793 0.6994 0.56 0.62 0.66 0.68 0.6372 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.55139 3.55139 NA 0.600503 0.675702 NA 0.696 NA 2.188697 1433 21 10862618 10862618 T C intergenic TEKT4P2,TPTE dist=894025;dist=44125 NA NA upstream ENSG00000169861 NA NA NA NA NA 21p11.2 NA NA NA NA rs3916251 NA NA 0.473 0.635383 0.6799 0.6141 0.5879 0.6354 0.6452 NA NA NA NA 0.6339 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389141 NA NA NA NA NA 0.652 NA 2.1862 1433 10 27382240 27382240 T C intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs2297147 0.42 0.42 0.383 0.394968 0.5974 0.4444 0.4957 0.1188 0.4376 0.59 0.39 0.52 0.14 0.5732 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.224561 2.224561 NA 0.643484 0.219664 NA 0.399 NA 2.185916 1433 2 136614255 136614255 G A intronic MCM6 NA NA NA intronic ENSG00000076003 NA NA NA NA NA 2q21.3 NA NA NA NA rs309180 0.4 0.4 0.368 0.336262 0.5835 0.375 0.3862 0.121 0.2975 0.59 0.38 0.42 0.12 0.5439 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647544 NA NA 0.687326 0.233545 NA 0.457 NA 2.185274 1434 11 76183924 76183924 A G intronic C11orf30 NA NA NA intronic ENSG00000158636 NA NA NA NA NA 11q13.5 NA NA NA NA rs4245443 0.61 0.61 0.573 0.583666 0.6123 0.6944 0.7478 0.3283 0.6687 0.62 0.71 0.72 0.37 0.6142 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811418 NA NA 0.589003 0.390682 NA 0.601 NA 2.184497 1434 1 155928242 155928242 C T intronic ARHGEF2 NA NA NA intronic ENSG00000116584 NA NA NA NA NA 1q22 NA NA NA NA rs2886069 0.81 0.81 0.774 0.780351 0.8936 0.9405 0.9092 0.4334 0.8763 0.9 0.93 0.91 0.44 NA 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021091 NA NA 0.92269 0.54263 NA 0.696 NA 2.18371 1434 2 203693559 203693559 C G intronic ICA1L NA NA NA intronic ENSG00000163596 NA NA NA NA NA 2q33.2 NA Name=CTCF NA NA rs4675296 0.87 0.87 0.872 0.869609 0.9503 0.9276 0.8833 0.6997 0.9468 0.95 0.92 0.88 0.68 0.9177 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.20418 NA NA 0.949767 0.752837 NA 0.87 NA 2.182233 1434 7 814612 814612 G A intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA NA NA NA rs34943122 0.65 0.65 0.636 0.665136 0.6054 0.619 0.6715 0.73 0.682 0.59 0.63 0.65 0.75 0.62 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083344 NA NA 0.59314 0.681344 NA 0.609 NA 2.18146 1434 12 125438549 125438549 A G intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs4606565 0.63 0.63 0.566 0.656749 0.6004 0.8462 0.6571 0.4463 0.8037 0.59 0.84 0.64 0.43 0.6393 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350126 NA NA 0.579204 0.43123 NA 0.493 NA 2.181096 1434 8 142229145 142229145 A G intronic SLC45A4 NA NA NA intronic ENSG00000022567 NA NA NA NA NA 8q24.3 NA NA NA NA rs3739235 0.7 0.7 0.668 0.709665 0.6014 0.8175 0.585 0.8238 0.6442 0.58 0.81 0.65 0.8 0.6362 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.748262 NA NA 0.581305 0.813308 NA 0.594 NA 2.181095 1434 10 69651125 69651125 A G intronic SIRT1 NA NA NA intronic ENSG00000096717 NA NA NA NA NA 10q21.3 NA NA NA NA rs7896005 0.37 0.37 0.342 0.324281 0.6501 0.1567 0.4712 0.056 0.4202 0.66 0.17 0.5 0.09 0.5173 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.903515 3.903515 NA 0.651512 0.15025 NA 0.449 NA 2.181088 1434 1 197059928 197059928 A G intronic ASPM NA NA NA intronic ENSG00000066279 NA NA NA NA NA 1q31.3 NA NA NA NA rs4915316 0.8 0.8 0.763 0.75639 0.9125 0.9831 0.8746 0.2958 0.9008 0.92 0.99 0.89 0.33 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146004 NA NA 0.90658 0.378286 NA 0.667 NA 2.18092 1434 4 76416779 76416779 G A intronic RCHY1 NA NA NA intronic ENSG00000163743 NA NA NA NA NA 4q21.1 NA NA NA NA rs2045863 0.67 0.67 0.64 0.634585 0.6083 0.6171 0.5965 0.7761 0.5153 0.62 0.66 0.61 0.79 0.6176 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028814 NA NA 0.59327 0.770167 NA 0.609 NA 2.18083 1434 3 108135609 108135609 A T intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs116262927 NA NA NA 0.911142 0.9066 0.995 0.9395 0.8064 0.9509 NA NA NA NA 0.9137 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968196 NA NA NA NA NA NA NA 2.1797 1434 17 4712757 4712757 G A intronic PLD2 NA NA NA intronic ENSG00000129219 NA NA NA NA NA 17p13.2 NA NA NA NA rs2286671 0.43 0.43 0.391 0.39357 0.6203 0.1488 0.6326 0.292 0.3804 0.63 0.13 0.64 0.32 0.5529 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787317 NA NA 0.647825 0.360645 NA 0.58 NA 2.178975 1434 10 5827074 5827074 G A intronic GDI2 NA NA NA intronic ENSG00000057608 NA NA NA NA NA 10p15.1 NA NA NA NA rs10795547 0.47 0.47 0.437 0.45607 0.6382 0.2371 0.5735 0.4508 0.4182 0.64 0.22 0.54 0.44 0.5604 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15237 NA NA 0.62407 0.486155 NA 0.449 NA 2.17733 1434 10 69692330 69692330 T C intronic HERC4 NA NA NA intronic ENSG00000148634 NA NA NA NA NA 10q21.3 NA NA NA NA rs3758392 0.38 0.38 0.346 0.324681 0.6531 0.1567 0.4712 0.056 0.4192 0.66 0.17 0.5 0.09 0.5182 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442641 NA NA 0.652326 0.150477 NA 0.449 NA 2.176374 1434 12 123345347 123345347 G A intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA Name=8 NA rs7306948 0.95 0.95 0.943 0.933307 0.9364 0.9891 0.9798 0.9304 0.8436 0.93 0.99 0.97 0.93 0.9364 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023435 NA NA 0.951151 0.93733 NA 0.768 NA 2.176049 1434 16 87788756 87788756 A G intronic KLHDC4 NA NA NA intronic ENSG00000104731 NA NA NA NA NA 16q24.2 NA NA NA NA rs2303770 0.75 0.75 0.747 0.772165 0.5706 0.7688 0.7767 0.9281 0.7689 0.59 0.83 0.73 0.93 0.6774 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321533 NA NA 0.576512 0.881256 NA 0.652 NA 2.175488 1435 2 152394534 152394534 T G intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs3732310 0.57 0.57 0.556 0.498802 0.6213 0.5585 0.6585 0.3775 0.362 0.61 0.61 0.67 0.4 0.5837 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.566918 1.566918 NA 0.620605 0.423247 NA 0.558 NA 2.174395 1435 3 47079112 47079112 G A intronic SETD2 NA NA NA intronic ENSG00000181555 NA NA NA NA NA 3p21.31 NA NA NA NA rs6768722 0.68 0.68 0.661 0.677516 0.6044 0.6637 0.6772 0.7829 0.6247 0.61 0.68 0.7 0.79 0.6332 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022929 NA NA 0.58814 0.749206 NA 0.71 NA 2.17426 1435 1 227834400 227834400 G A intronic ZNF678 NA NA NA intronic ENSG00000181450 NA NA NA NA NA 1q42.13 NA NA NA NA rs6426468 0.74 0.74 0.735 0.772564 0.5736 0.8214 0.719 0.9198 0.7658 0.58 0.82 0.72 0.91 0.6584 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.030165 NA NA 0.59428 0.861272 NA 0.645 NA 2.17372 1435 12 123335483 123335483 A G intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA Name=72 NA rs2271048 0.96 0.96 0.945 0.94369 0.9364 0.9782 0.9755 0.9629 0.8671 0.93 0.98 0.97 0.96 0.9376 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280133 NA NA 0.952314 0.95892 NA 0.971 NA 2.173686 1435 2 219267913 219267913 A G intronic CTDSP1 NA NA NA intronic ENSG00000144579 NA NA NA NA NA 2q35 NA NA NA NA rs2227258 0.58 0.58 0.538 0.553315 0.6183 0.6994 0.6066 0.3215 0.6115 0.64 0.71 0.62 0.3 0.5945 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.984435 NA NA 0.615349 0.381525 NA 0.413 NA 2.171851 1435 4 1659128 1659128 T C intronic FAM53A NA NA NA intronic ENSG00000174137 NA NA NA NA NA 4p16.3 NA NA NA NA rs56214302 0.62 0.62 0.626 0.636981 0.6243 0.3284 0.6628 0.9486 0.5286 0.62 0.32 0.69 0.94 0.6159 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310882 NA NA 0.58814 0.887199 NA 0.681 NA 2.17166 1435 9 96425138 96425138 T C intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA NA NA 9q22.31 NA NA NA NA rs3750358 0.59 0.59 0.592 0.514776 0.6093 0.4931 0.4813 0.6573 0.271 0.61 0.52 0.53 0.67 0.5677 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234031 NA NA 0.651395 0.629823 NA 0.659 NA 2.171605 1435 8 145665699 145665699 C T intronic TONSL NA NA NA intronic ENSG00000160949 NA NA NA NA NA 8q24.3 NA NA NA NA rs2721188 0.59 0.59 0.618 0.646166 0.5984 0.4921 0.5288 0.7655 0.7761 0.58 0.45 0.53 0.8 0.6182 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34574 NA NA 0.613076 0.721717 NA 0.623 NA 2.170324 1435 9 139410589 139410589 A G intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs4880099 0.74 0.74 0.703 0.686701 0.6074 0.8651 0.7594 0.7012 0.5133 0.62 0.9 0.72 0.73 0.637 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.569538 NA NA 0.585278 0.706015 NA 0.717 NA 2.170322 1435 17 26109030 26109030 T C intronic NOS2 NA NA NA intronic ENSG00000007171 NA NA NA NA NA 17q11.2 NA NA NA NA rs3729508 0.64 0.64 0.629 0.682308 0.5835 0.4921 0.7248 0.8215 0.7618 0.59 0.49 0.7 0.86 0.6457 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240454 NA NA 0.601279 0.786201 NA 0.761 NA 2.169521 1435 8 136560952 136560952 A G intronic KHDRBS3 NA NA NA intronic ENSG00000131773 NA NA NA NA NA 8q24.23 NA NA NA NA rs12545587 0.58 0.58 0.542 0.563299 0.5915 0.7817 0.6066 0.3064 0.6258 0.6 0.78 0.6 0.3 0.6457 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150836 NA NA 0.594828 0.381591 NA 0.442 NA 2.167972 1435 5 33648906 33648906 G C intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs6870538 0.58 0.58 0.555 0.540335 0.6014 0.7143 0.6066 0.3585 0.4969 0.59 0.71 0.62 0.37 0.5892 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.056128 2.056128 NA 0.642326 0.437358 NA 0.478 NA 2.167074 1435 22 50646936 50646936 G C intronic SELO NA NA NA intronic ENSG00000073169 NA NA NA NA NA 22q13.33 NA NA NA NA rs5771102 0.71 0.71 0.718 0.701877 0.6123 0.7649 0.5937 0.8623 0.589 0.61 0.76 0.62 0.87 0.62 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601571 NA NA 0.601337 0.818519 NA 0.688 NA 2.166363 1435 2 153378574 153378574 A G intronic FMNL2 NA NA NA intronic ENSG00000157827 NA NA NA NA NA 2q23.3 NA NA NA NA rs4664592 0.54 0.54 0.515 0.538738 0.6312 0.6141 0.5202 0.382 0.591 0.62 0.58 0.51 0.4 0.5881 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896839 NA NA 0.615394 0.421009 NA 0.478 NA 2.165306 1436 3 38784029 38784029 T C intronic SCN10A NA NA NA intronic ENSG00000185313 NA NA NA NA NA 3p22.2 NA NA NA NA rs6599250 0.74 0.74 0.752 0.757788 0.5865 0.8373 0.6239 0.9501 0.6871 0.58 0.86 0.61 0.94 0.6537 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.766267 1.766267 NA 0.595116 0.897413 NA 0.659 NA 2.164684 1436 5 33643617 33643617 C T intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs4866409 0.58 0.58 0.57 0.540335 0.6014 0.7153 0.6052 0.3585 0.4969 0.6 0.71 0.62 0.37 0.5912 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189064 NA NA 0.643023 0.438493 NA 0.478 NA 2.164377 1436 12 20803549 20803549 T C intronic PDE3A NA NA NA intronic ENSG00000172572 NA NA NA NA NA 12p12.2 NA NA NA NA rs10743384 0.57 0.57 0.553 0.539736 0.6372 0.7242 0.4813 0.3192 0.589 0.63 0.74 0.51 0.33 0.5852 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519953 NA NA 0.613256 0.376078 NA 0.529 NA 2.164344 1436 2 224763816 224763816 C T intronic WDFY1 NA NA NA intronic ENSG00000085449 NA NA NA NA NA 2q36.1 NA NA Name=5 NA rs530065 0.9 0.9 0.883 0.911142 0.9433 0.8284 0.9568 0.8775 0.9765 0.94 0.79 0.95 0.9 0.9394 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549847 NA NA 0.95314 0.904902 NA 0.935 NA 2.16416 1436 2 152374800 152374800 G A intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs16830136 0.61 0.61 0.605 0.535942 0.6243 0.5605 0.6643 0.5098 0.364 0.61 0.62 0.67 0.55 0.5895 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639947 NA NA 0.622561 0.526019 NA 0.565 NA 2.163639 1436 22 50718397 50718397 A G intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs28611220 0.58 0.58 0.592 0.621006 0.6163 0.6885 0.5389 0.5749 0.6769 0.59 0.65 0.51 0.54 0.6101 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76737 NA NA 0.610458 0.582425 NA 0.514 NA 2.163142 1436 9 139912178 139912178 G A intronic ABCA2 NA NA NA intronic ENSG00000107331 NA NA NA NA NA 9q34.3 NA NA NA NA rs879854 0.66 0.66 0.646 0.661941 0.5905 0.7708 0.5793 0.649 0.6994 0.6 0.77 0.6 0.65 0.6339 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.543402 1.543402 NA 0.612619 0.646739 NA 0.674 NA 2.162981 1436 7 30673345 30673345 C T intronic GARS NA NA NA intronic ENSG00000106105 NA NA NA NA NA 7p14.3 NA NA NA NA rs2240401 0.46 0.46 0.432 0.404153 0.6451 0.4861 0.5677 0.0756 0.3998 0.65 0.44 0.57 0.1 0.5525 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580002 NA NA 0.640049 0.164477 NA 0.304 NA 2.162351 1436 6 36766292 36766292 C T intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs6940728 0.66 0.66 0.647 0.654353 0.5984 0.6647 0.7205 0.7163 0.5706 0.61 0.65 0.7 0.73 0.6255 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450227 NA NA 0.61407 0.704721 NA 0.696 NA 2.16203 1436 16 70732761 70732761 G C intronic VAC14 NA NA NA intronic ENSG00000103043 NA NA NA NA NA 16q22.1 NA NA NA NA rs9673700 0.51 0.51 0.48 0.499002 0.6491 0.248 0.5533 0.6437 0.3691 0.67 0.22 0.53 0.59 0.5623 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153213 NA NA 0.627093 0.640355 NA 0.616 NA 2.161507 1436 9 90387805 90387805 A C upstream CTSL3P NA NA NA ncRNA_exonic ENSG00000188029 NA NA NA NA NA 9q21.33 NA NA NA NA rs9410955 0.76 0.76 0.751 0.741214 0.6372 0.8304 0.7738 0.7943 0.6616 0.66 0.82 0.76 0.83 0.7115 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200237 NA NA 0.656977 0.786655 NA 0.812 NA 2.1609896 1436 1 11575375 11575375 T A intronic PTCHD2 NA NA NA intronic ENSG00000204624 NA NA NA NA NA 1p36.22 NA NA NA NA rs2594318 0.48 0.48 0.429 0.419129 0.6511 0.2758 0.6441 0.3124 0.3129 0.65 0.28 0.63 0.32 0.5542 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35427 NA NA 0.633854 0.394366 NA 0.435 NA 2.160846 1436 17 7700712 7700712 C T intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs1565817 0.54 0.54 0.514 0.533946 0.6183 0.6181 0.6513 0.27 0.6339 0.61 0.6 0.6 0.3 0.6027 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869577 NA NA 0.618721 0.32887 NA 0.493 NA 2.160279 1436 21 45092257 45092257 T A intronic RRP1B NA NA NA intronic ENSG00000160208 NA NA NA NA NA 21q22.3 NA NA NA NA rs2251253 0.64 0.64 0.603 0.641573 0.6103 0.8353 0.7219 0.4251 0.7096 0.6 0.83 0.67 0.47 0.6429 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68009 NA NA 0.586744 0.466409 ID=COSN166671;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.572 NA 2.160056 1436 1 168200733 168200733 T C intronic SFT2D2 NA NA NA intronic ENSG00000213064 NA NA NA NA NA 1q24.2 NA NA NA NA rs11588504 0.51 0.51 0.477 0.435304 0.6471 0.4375 0.4971 0.2821 0.3783 0.68 0.46 0.54 0.31 0.5618 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088536 NA NA 0.631279 0.314344 NA 0.493 NA 2.159821 1436 2 224765894 224765894 G A intronic WDFY1 NA NA NA intronic ENSG00000085449 NA NA NA Score=446;Name=lod=87 NA 2q36.1 NA NA NA NA rs604990 0.9 0.9 0.885 0.911142 0.9433 0.8284 0.9568 0.8775 0.9765 0.94 0.79 0.95 0.9 0.9408 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.705182 1.705182 NA 0.956163 0.904902 NA 0.935 NA 2.159737 1436 8 143959289 143959289 T C intronic CYP11B1 NA NA NA intronic ENSG00000104499,ENSG00000160882 NA NA NA NA NA 8q24.3 NA NA NA NA rs7818953 0.74 0.74 0.73 0.769768 0.6203 0.8492 0.6945 0.8956 0.7249 0.6 0.84 0.65 0.88 0.6475 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496247 NA NA 0.572577 0.853311 NA 0.725 NA 2.159623 1436 7 100410657 100410657 A G intronic EPHB4 NA NA NA intronic ENSG00000196411 NA NA NA NA NA 7q22.1 NA NA NA NA rs314358 0.58 0.58 0.582 0.575479 0.6282 0.6329 0.67 0.4561 0.5562 0.61 0.6 0.6 0.48 0.6083 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324024 NA NA 0.606163 0.487744 NA 0.63 NA 2.157337 1436 20 44523248 44523248 T C intronic CTSA NA NA NA intronic ENSG00000064601 NA NA NA NA NA 20q13.12 NA NA NA NA rs2075962 0.64 0.64 0.611 0.626997 0.6103 0.6845 0.7392 0.5983 0.544 0.63 0.66 0.69 0.56 0.6275 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156701 NA NA 0.60593 0.608488 NA 0.667 NA 2.15627 1436 8 143563087 143563087 C G intronic BAI1 NA NA NA intronic ENSG00000181790 NA NA NA NA NA 8q24.3 NA NA NA NA rs11782438 0.53 0.53 0.528 0.519968 0.6223 0.5149 0.4683 0.4365 0.5695 0.64 0.47 0.48 0.46 0.6051 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62027 NA NA 0.617052 0.481846 NA 0.406 NA 2.155548 1436 16 83994569 83994569 G T intronic OSGIN1 NA NA NA intronic ENSG00000140961 NA NA NA NA NA 16q23.3 NA NA NA NA rs2136662 0.73 0.73 0.722 0.71246 0.6133 0.7937 0.7089 0.8056 0.6074 0.61 0.83 0.68 0.84 0.6449 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716146 NA NA 0.586395 0.769773 NA 0.804 NA 2.155405 1436 19 48601528 48601528 G T intronic PLA2G4C NA NA NA intronic ENSG00000105499 NA NA NA NA NA 19q13.33 NA NA NA NA rs251683 0.66 0.66 0.644 0.660343 0.6074 0.7341 0.6412 0.7163 0.5767 0.58 0.71 0.65 0.73 0.6109 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338322 NA NA 0.626512 0.692919 NA 0.754 NA 2.155188 1437 16 1873087 1873087 C A intronic HAGH NA NA NA intronic ENSG00000063854 NA NA NA NA NA 16p13.3 NA NA NA NA rs104843 0.58 0.58 0.561 0.550919 0.6083 0.5208 0.6441 0.556 0.4499 0.61 0.53 0.68 0.53 0.5953 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587503 NA NA 0.641461 0.585571 NA 0.536 NA 2.154939 1437 10 27454111 27454111 A T intronic MASTL NA NA NA intronic ENSG00000120539 NA NA NA NA NA 10p12.1 NA NA NA NA rs7068375 0.51 0.51 0.492 0.504792 0.6024 0.4375 0.5231 0.5234 0.4356 0.59 0.38 0.55 0.51 0.5924 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.041611 2.041611 NA 0.650814 0.552429 NA 0.514 NA 2.154386 1437 1 19499835 19499835 G C intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs951908 0.72 0.72 0.706 0.71226 0.6044 0.8105 0.732 0.8215 0.5603 0.6 0.82 0.71 0.82 0.6419 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242333 NA NA 0.600698 0.793463 NA 0.71 NA 2.153002 1437 19 32954725 32954725 G A intronic DPY19L3 NA NA NA intronic ENSG00000178904 NA NA NA NA NA 19q13.11 NA NA NA NA rs1544511 0.59 0.59 0.591 0.550319 0.6412 0.6399 0.4323 0.4387 0.5992 0.66 0.65 0.51 0.48 0.5845 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.334058 1.334058 NA 0.622558 0.468452 NA 0.551 NA 2.151742 1437 2 158637137 158637137 A G intronic ACVR1 NA NA NA intronic ENSG00000115170 NA NA NA NA NA 2q24.1 NA NA NA NA rs1866885 NA NA NA 0.714856 0.7137 0.8383 0.7738 0.6104 0.6881 NA NA NA NA 0.5304 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416995 NA NA 0.604327 0.5551 NA 0.667 NA 2.151573 1437 2 136569848 136569848 C A intronic LCT NA NA NA intronic ENSG00000115850 NA NA NA NA NA 2q21.3 NA NA NA NA rs12988076 0.42 0.42 0.368 0.35623 0.5954 0.3998 0.4323 0.1203 0.3303 0.6 0.41 0.46 0.11 0.5569 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347062 NA NA 0.696649 0.235134 NA 0.464 NA 2.151051 1437 18 57147390 57147390 C G intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs1790508 0.73 0.73 0.709 0.711661 0.6332 0.8204 0.7334 0.7489 0.6145 0.64 0.81 0.74 0.76 0.6399 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249076 NA NA 0.576186 0.715227 NA 0.355 NA 2.150714 1437 9 96420390 96420390 A G intronic PHF2 NA NA NA intronic ENSG00000197724 NA NA NA NA NA 9q22.31 NA NA NA NA rs3763605 0.6 0.6 0.579 0.52516 0.6103 0.4931 0.4841 0.6914 0.2751 0.61 0.52 0.54 0.71 0.5875 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023522 NA NA 0.652164 0.663789 NA 0.667 NA 2.150036 1437 10 96802598 96802598 A T intronic CYP2C8 NA NA NA intronic ENSG00000138115 NA NA NA NA NA 10q23.33 NA NA NA NA rs2275620 0.6 0.6 0.603 0.597843 0.6352 0.4236 0.4467 0.7685 0.6155 0.61 0.47 0.53 0.76 0.5891 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14492 NA NA 0.626395 0.762823 NA 0.594 NA 2.149305 1437 4 37636750 37636750 T G intronic RELL1 NA NA NA intronic ENSG00000181826 NA NA NA NA NA 4p14 NA NA NA NA rs2276943 0.56 0.56 0.551 0.575879 0.6282 0.4683 0.611 0.528 0.6728 0.62 0.45 0.63 0.55 0.6024 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74928 NA NA 0.620165 0.54418 NA 0.609 NA 2.149235 1437 17 38189055 38189055 A G intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA NA NA NA rs3935280 0.61 0.61 0.611 0.626997 0.6163 0.5625 0.6556 0.6029 0.7168 0.61 0.57 0.65 0.64 0.629 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729195 NA NA 0.605465 0.604857 NA 0.652 NA 2.149235 1437 8 99162888 99162888 A G intronic POP1 NA NA NA intronic ENSG00000104356 NA NA NA NA NA 8q22.2 NA NA NA NA rs4735530 0.67 0.67 0.675 0.700879 0.6203 0.4613 0.6542 0.9834 0.682 0.63 0.47 0.65 0.98 0.6417 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042906 NA NA 0.590349 0.914889 NA 0.819 NA 2.147651 1437 1 19510394 19510394 A G intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs3762396 0.72 0.72 0.718 0.716853 0.6064 0.8105 0.7305 0.8374 0.5613 0.6 0.82 0.71 0.82 0.6444 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619539 NA NA 0.602093 0.807535 NA 0.732 NA 2.147107 1437 2 136558157 136558157 C T intronic LCT NA NA NA intronic ENSG00000115850 NA NA NA NA NA 2q21.3 NA NA NA NA rs748841 0.43 0.43 0.417 0.372204 0.5954 0.3978 0.4366 0.1793 0.3313 0.6 0.41 0.46 0.17 0.5604 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.096549 NA NA 0.697558 0.280073 NA 0.471 NA 2.146642 1437 21 45064296 45064296 C A intronic HSF2BP NA NA NA intronic ENSG00000160207 NA NA NA NA NA 21q22.3 NA NA NA NA rs2246602 0.66 0.66 0.647 0.667532 0.6173 0.8056 0.7003 0.5658 0.6912 0.61 0.79 0.66 0.6 0.6497 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201391 NA NA 0.587907 0.61507 NA 0.587 NA 2.145093 1438 1 19491857 19491857 T C intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs3748757 0.73 0.73 0.714 0.718051 0.6083 0.8105 0.7363 0.8366 0.5624 0.6 0.82 0.72 0.82 0.645 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593163 NA NA 0.602791 0.806627 NA 0.732 NA 2.143909 1438 12 124220055 124220055 T C intronic ATP6V0A2 NA NA NA intronic ENSG00000185344 NA NA NA NA NA 12q24.31 NA NA NA NA rs2271660 0.68 0.68 0.653 0.679912 0.6093 0.9464 0.7363 0.4879 0.6973 0.61 0.95 0.71 0.43 0.6415 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025349 NA NA 0.60686 0.502497 NA 0.703 NA 2.14234 1438 10 115401264 115401264 A G intronic NRAP NA NA NA intronic ENSG00000197893 NA NA NA NA NA 10q25.3 NA NA NA NA rs3121465 0.58 0.58 0.564 0.564297 0.6243 0.7103 0.6715 0.2965 0.638 0.61 0.71 0.68 0.33 0.6188 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852015 NA NA 0.614884 0.351566 NA 0.594 NA 2.142016 1438 1 22310145 22310145 C T intronic CELA3B NA NA NA intronic ENSG00000219073 NA NA NA NA NA 1p36.12 NA NA NA NA rs10733032 0.84 0.84 0.752 0.847843 0.9672 0.755 0.9366 0.7095 0.9448 0.97 0.71 0.94 0.72 0.8911 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172922 NA NA NA NA NA 0.804 NA 2.1417 1438 10 124271595 124271595 G A intronic HTRA1 NA NA NA intronic ENSG00000166033 NA NA NA NA NA 10q26.13 NA NA NA NA rs2272599 0.6 0.6 0.625 0.627995 0.6223 0.6071 0.464 0.7239 0.6421 0.6 0.62 0.49 0.67 0.6113 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485738 NA NA 0.625349 0.699955 NA 0.71 NA 2.141051 1438 12 104733165 104733165 A G intronic TXNRD1 NA NA NA intronic ENSG00000198431 NA NA NA NA NA 12q23.3 NA NA NA NA rs10861202 0.63 0.63 0.612 0.600639 0.6113 0.7817 0.5994 0.503 0.5358 0.6 0.81 0.59 0.5 0.6214 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014501 NA NA 0.62657 0.531963 NA 0.674 NA 2.14073 1438 11 93534990 93534990 G A intronic MED17 NA NA NA intronic ENSG00000042429 NA NA NA NA NA 11q21 NA NA NA NA rs655699 0.57 0.57 0.511 0.527556 0.6302 0.7401 0.7305 0.1619 0.5532 0.64 0.74 0.7 0.16 0.6075 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451922 NA NA 0.622527 0.229214 NA 0.348 NA 2.139773 1438 19 48601350 48601350 T C intronic PLA2G4C NA NA NA intronic ENSG00000105499 NA NA NA NA NA 19q13.33 NA NA NA NA rs251685 0.63 0.63 0.613 0.6252 0.6123 0.7411 0.6124 0.5968 0.5665 0.59 0.72 0.62 0.61 0.61 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055314 NA NA 0.638256 0.602133 NA 0.696 NA 2.139444 1438 6 116878947 116878947 C T intronic FAM26D NA NA NA intronic ENSG00000164451 NA NA NA NA NA 6q22.1 NA NA NA NA rs6906668 0.66 0.66 0.639 0.642572 0.6123 0.8978 0.7349 0.4198 0.6462 0.61 0.9 0.7 0.42 0.6384 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423046 NA NA 0.609884 0.470936 NA 0.536 NA 2.139416 1438 5 7862926 7862926 T C intronic FASTKD3 NA NA NA intronic ENSG00000124279 NA NA NA NA NA 5p15.31 NA NA NA NA rs3733784 0.45 0.45 0.45 0.445088 0.6461 0.3125 0.379 0.3101 0.6043 0.66 0.3 0.41 0.33 0.5627 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681052 NA NA 0.651977 0.326146 NA 0.428 NA 2.139223 1438 2 220033830 220033830 A G intronic SLC23A3 NA NA NA intronic ENSG00000213901 NA NA NA NA NA 2q35 NA NA NA NA rs3795986 0.44 0.44 0.412 0.413339 0.6541 0.2292 0.4179 0.2436 0.5818 0.67 0.25 0.47 0.27 0.5646 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184215 NA NA 0.642109 0.320837 NA 0.5 NA 2.139191 1438 5 176018545 176018545 G A intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs11134984 NA NA 0.715 0.770567 0.9245 0.7887 0.8631 0.5408 0.8384 NA NA NA NA NA 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057094 NA NA 0.937146 0.589595 NA 0.522 NA 2.138354 1438 20 31291161 31291161 C T UTR3 COMMD7 NM_001099339:c.*23G>A,NM_053041:c.*23G>A NA NA UTR3 ENSG00000149600 ENST00000278980:c.*23G>A,ENST00000446419:c.*23G>A NA NA NA NA 20q11.21 NA NA NA NA rs9421 0.61 0.61 0.606 0.59385 0.7594 0.4772 0.487 0.5378 0.6953 0.76 0.45 0.56 0.6 0.672 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.487914 NA NA 0.763704 0.616972 NA 0.652 NA 2.1382294 1438 8 41585571 41585571 C T intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs1872877 0.54 0.54 0.532 0.566693 0.6402 0.3363 0.6023 0.643 0.6002 0.65 0.31 0.58 0.62 0.5946 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.176789 2.176789 NA 0.627093 0.629596 NA 0.609 NA 2.138107 1438 17 61838259 61838259 G A intronic CCDC47 NA NA NA intronic ENSG00000108588 NA NA NA NA NA 17q23.3 NA NA NA NA rs11654841 0.68 0.68 0.704 0.726438 0.5974 0.5565 0.6787 0.9569 0.7566 0.6 0.59 0.63 0.96 0.6584 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196511 NA NA 0.606163 0.893781 NA 0.681 NA 2.138037 1438 2 240055901 240055901 G A intronic HDAC4 NA NA NA intronic ENSG00000068024 NA NA NA NA NA 2q37.3 NA NA NA NA rs2278778 0.58 0.58 0.554 0.588858 0.6193 0.8562 0.6182 0.1407 0.8671 0.62 0.87 0.59 0.18 0.6357 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038743 NA NA 0.607093 0.212988 NA 0.565 NA 2.137907 1438 17 61902822 61902822 C G intronic FTSJ3 NA NA NA intronic ENSG00000108592 NA NA NA NA NA 17q23.3 NA NA NA NA rs716880 0.68 0.68 0.692 0.726438 0.5984 0.5556 0.6787 0.9569 0.7566 0.6 0.58 0.63 0.96 0.6584 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.195852 NA NA 0.606512 0.894235 NA 0.674 NA 2.136688 1438 7 47319723 47319723 C T intronic TNS3 NA NA NA UTR3 ENSG00000136205 ENST00000428457:c.*35G>A NA NA NA NA 7p12.3 NA NA NA NA rs4720590 0.71 0.71 0.708 0.710463 0.674 0.5933 0.781 0.7988 0.6994 0.66 0.65 0.75 0.8 0.6861 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411161 NA NA 0.670304 0.777016 NA 0.739 NA 2.1362627 1438 16 57954268 57954268 A G intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs166000 0.66 0.66 0.626 0.691094 0.6133 0.7133 0.585 0.7156 0.7904 0.6 0.74 0.59 0.7 0.639 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724625 NA NA 0.611938 0.701168 NA 0.594 NA 2.135762 1438 17 67081732 67081732 C T intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.2 NA NA NA NA rs2302133 0.46 0.46 0.42 0.482428 0.6441 0.3194 0.5605 0.3563 0.5992 0.64 0.26 0.54 0.35 0.5825 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645019 NA NA 0.637674 0.387199 NA 0.42 NA 2.135726 1438 15 100251015 100251015 C G intronic MEF2A NA NA NA intronic ENSG00000068305 NA NA NA NA NA 15q26.3 NA NA NA NA rs325403 0.58 0.58 0.561 0.547324 0.6083 0.6796 0.6988 0.2912 0.5869 0.62 0.7 0.69 0.32 0.6125 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153773 NA NA 0.643576 0.375114 NA 0.457 NA 2.135624 1438 4 57189498 57189498 G A intronic KIAA1211 NA NA NA intronic ENSG00000109265 NA NA NA NA NA 4q12 NA NA NA NA rs2292985 0.54 0.54 0.501 0.550519 0.6322 0.5327 0.7017 0.3411 0.6605 0.63 0.52 0.67 0.34 0.613 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552594 NA NA 0.619232 0.401707 NA 0.558 NA 2.135568 1439 3 182681853 182681853 T C intronic DCUN1D1 NA NA NA intronic ENSG00000043093 NA NA NA NA NA 3q26.33 NA NA NA NA rs4859147 0.38 0.38 0.309 0.377796 0.6501 0.2421 0.5865 0.0325 0.5562 0.64 0.21 0.52 0.05 0.5527 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.281606 NA NA 0.662674 0.144122 NA 0.29 NA 2.134526 1439 8 142176507 142176507 T C intronic DENND3 NA NA NA intronic ENSG00000105339 NA NA NA NA NA 8q24.3 NA NA NA NA rs412706 0.64 0.64 0.63 0.67472 0.6153 0.5506 0.6052 0.8177 0.7198 0.61 0.55 0.65 0.79 0.6434 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035186 NA NA 0.607126 0.784385 NA 0.522 NA 2.134174 1439 1 203040816 203040816 G C intronic PPFIA4 NA NA NA intronic ENSG00000143847 NA NA NA NA NA 1q32.1 NA NA NA NA rs2270540 0.55 0.55 0.523 0.549121 0.6223 0.4573 0.5216 0.525 0.6207 0.65 0.42 0.54 0.56 0.618 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08916 NA NA 0.626468 0.556359 ID=COSM146737;OCCURENCE=1(stomach) 0.659 NA 2.133232 1439 6 116429623 116429623 T A intronic NT5DC1 NA NA NA intronic ENSG00000178425 NA NA NA NA NA 6q22.1 NA NA NA NA rs517352 0.63 0.63 0.6 0.659345 0.6014 0.7589 0.6916 0.5053 0.8016 0.6 0.77 0.66 0.48 0.6623 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.08291 NA NA 0.603164 0.524058 NA 0.681 NA 2.133136 1439 6 47654817 47654817 C A intronic GPR111 NA NA NA intronic ENSG00000153294,ENSG00000164393 NA NA NA NA NA 6p12.3 NA NA NA NA rs1556133 0.46 0.46 0.498 0.51897 0.6262 0.3085 0.4352 0.469 0.7526 0.59 0.29 0.48 0.46 0.5949 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489323 NA NA 0.646144 0.46703 NA 0.428 NA 2.132756 1439 8 101232701 101232701 T C intronic SPAG1 NA NA NA intronic ENSG00000104450 NA NA NA NA NA 8q22.2 NA NA NA NA rs2919471 0.68 0.68 0.69 0.686302 0.6183 0.5952 0.719 0.8563 0.5971 0.63 0.58 0.72 0.85 0.641 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122146 NA NA 0.608953 0.818202 ID=COSN168389;OCCURENCE=1(large_intestine) 0.652 NA 2.131747 1439 1 201338896 201338896 T C intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA NA NA 1q32.1 NA NA NA NA rs10920184 0.54 0.54 0.514 0.529952 0.6511 0.4653 0.7176 0.3132 0.6319 0.65 0.49 0.72 0.31 0.5969 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639119 NA NA 0.621047 0.34453 NA 0.536 NA 2.130953 1439 2 28816948 28816948 C T intronic PLB1 NA NA NA UTR3 ENSG00000163803 ENST00000329020:c.*28C>T,ENST00000436544:c.*28C>T NA NA NA NA 2p23.2 NA NA NA NA rs4665429 0.5 0.5 0.457 0.488019 0.6899 0.1458 0.6715 0.4145 0.6022 0.69 0.17 0.66 0.46 0.6363 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732501 NA NA 0.710196 0.46347 NA 0.464 NA 2.1302707 1439 11 76227182 76227182 G A intronic C11orf30 NA NA NA intronic ENSG00000158636 NA NA NA NA NA 11q13.5 NA NA NA NA rs2508740 0.65 0.65 0.616 0.636182 0.6213 0.8006 0.755 0.3828 0.7403 0.63 0.81 0.73 0.42 0.6438 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328308 NA NA 0.605079 0.442273 NA 0.63 NA 2.129821 1439 12 81329536 81329536 A C ncRNA_exonic MIR618 NA NA NA ncRNA_exonic ENSG00000208022 NA NA NA NA NA 12q21.31 NA NA NA NA rs2682818 0.77 0.77 0.755 0.757588 0.8549 0.747 0.8818 0.6604 0.7117 0.86 0.73 0.85 0.6 0.8258 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057088 NA NA 0.856505 0.699298 NA 0.826 NA 2.1294616 1439 2 43871983 43871983 T C intronic PLEKHH2 NA NA NA intronic ENSG00000152527 NA NA NA NA NA 2p21 NA NA NA NA rs12105773 0.58 0.58 0.577 0.581869 0.6282 0.2808 0.5476 0.8026 0.5706 0.63 0.31 0.58 0.82 0.6033 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031091 NA NA 0.640233 0.770767 ID=COSN166078;OCCURENCE=1(NS) 0.522 NA 2.128267 1439 4 107154273 107154273 T C intronic TBCK NA NA NA intronic ENSG00000145348 NA NA NA NA NA 4q24 NA NA NA NA rs13138528 0.58 0.58 0.55 0.552716 0.6332 0.5635 0.6066 0.5076 0.4816 0.64 0.58 0.57 0.5 0.6049 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049305 NA NA 0.633666 0.527903 NA 0.659 NA 2.128234 1439 22 45218223 45218223 C T intronic ARHGAP8,PRR5-ARHGAP8 NA NA NA intronic ENSG00000241484,ENSG00000248405 NA NA NA NA NA 22q13.31 NA Name=MafK_(ab50322) NA NA rs136662 0.96 0.96 0.942 0.945487 0.9622 0.9087 0.9654 0.9697 0.9192 0.97 0.92 0.96 0.97 0.9493 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268196 NA NA 0.960581 0.97231 NA 0.942 NA 2.127919 1439 17 26100321 26100321 A G intronic NOS2 NA NA NA intronic ENSG00000007171 NA NA NA NA NA 17q11.2 NA NA NA NA rs2248814 0.69 0.69 0.677 0.727636 0.6034 0.6567 0.6455 0.8457 0.8272 0.59 0.68 0.67 0.87 0.6565 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114132 NA NA 0.612819 0.793896 NA 0.862 NA 2.127281 1439 5 115428439 115428439 T A intronic COMMD10 NA NA NA intronic ENSG00000145781 NA NA NA NA NA 5q23.1 NA NA NA NA rs6894046 0.48 0.48 0.451 0.441693 0.66 0.3839 0.5346 0.1725 0.5746 0.67 0.39 0.62 0.2 0.5707 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350573 NA NA 0.642026 0.254095 NA 0.413 NA 2.127274 1439 19 15769625 15769625 A G intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs1915390 0.72 0.72 0.715 0.721446 0.6243 0.8204 0.7305 0.7791 0.635 0.63 0.82 0.71 0.76 0.6474 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365084 NA NA 0.602209 0.772129 NA 0.522 NA 2.126091 1440 14 69392264 69392264 T G intronic ACTN1 NA NA NA intronic ENSG00000072110 NA NA NA NA NA 14q24.1 NA NA NA NA rs4899272 0.76 0.76 0.735 0.803115 0.5736 0.9851 0.7637 0.7844 0.9049 0.6 0.99 0.74 0.77 0.7103 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951354 NA NA 0.591744 0.742624 NA 0.645 NA 2.124356 1440 12 122281575 122281575 A G intronic HPD NA NA NA intronic ENSG00000158104 NA NA NA NA NA 12q24.31 NA NA NA NA rs1795963 0.73 0.73 0.748 0.764577 0.5994 0.8681 0.6282 0.8752 0.7751 0.59 0.83 0.66 0.89 0.6627 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.529377 NA NA 0.614186 0.84975 NA 0.732 NA 2.123714 1440 17 29653293 29653293 T C intronic NF1 NA NA NA intronic ENSG00000196712 NA NA NA NA NA 17q11.2 NA NA NA NA rs9894648 0.61 0.61 0.615 0.605831 0.6392 0.4494 0.4654 0.764 0.6186 0.65 0.48 0.51 0.76 0.6001 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54203 NA NA 0.637442 0.753291 NA 0.58 NA 2.123258 1440 7 150731338 150731338 G C intronic ABCB8 NA NA NA intronic ENSG00000197150 NA NA NA NA NA 7q36.1 NA NA NA NA rs2303923 0.75 0.75 0.752 0.736222 0.5934 0.7034 0.7478 0.9523 0.6166 0.63 0.74 0.72 0.95 0.6705 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245137 NA NA 0.613256 0.90808 NA 0.725 NA 2.122844 1440 5 135186075 135186075 A G intronic SLC25A48 NA NA NA intronic ENSG00000145832 NA NA NA NA NA 5q31.1 NA NA NA NA rs2304077 0.65 0.65 0.65 0.665136 0.6292 0.7113 0.5605 0.6914 0.6933 0.62 0.66 0.6 0.71 0.6249 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033746 NA NA 0.623197 0.694642 NA 0.754 NA 2.122703 1440 3 119373301 119373301 G A intronic POPDC2 NA NA NA intronic ENSG00000121577 NA NA NA NA NA 3q13.33 NA NA NA NA rs2688630 0.58 0.58 0.569 0.591653 0.6252 0.75 0.5447 0.3548 0.7474 0.64 0.72 0.56 0.36 0.6164 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063822 NA NA 0.63593 0.404448 NA 0.522 NA 2.12247 1440 20 60712511 60712511 A G intronic PSMA7 NA NA NA exonic ENSG00000101182 NA unknown UNKNOWN NA NA 20q13.33 NA NA NA NA rs2281740 0.73 0.73 0.711 0.686901 0.8111 0.7748 0.768 0.4569 0.7219 0.82 0.8 0.78 0.46 0.7654 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041283 NA 0.01 0.801163 0.498184 NA 0.659 NA 2.122337 1440 3 53263279 53263279 A G intronic TKT NA NA NA intronic ENSG00000163931 NA NA NA NA NA 3p21.1 NA NA NA NA rs3736156 0.57 0.57 0.551 0.600639 0.6322 0.752 0.5591 0.2927 0.8579 0.61 0.74 0.55 0.31 0.6221 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.850263 NA NA 0.623837 0.358829 NA 0.536 NA 2.121863 1440 21 46191270 46191270 C T UTR3 UBE2G2 NM_001202489:c.*22G>A,NM_182688:c.*22G>A,NM_003343:c.*22G>A NA NA UTR3 ENSG00000184787 ENST00000345496:c.*22G>A,ENST00000491513:c.*446G>A,ENST00000330942:c.*22G>A NA NA NA NA 21q22.3 NA NA NA NA rs11569 0.8 0.8 0.784 0.795527 0.7256 0.7669 0.732 0.9297 0.7607 0.74 0.8 0.73 0.94 0.7575 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074956 NA NA 0.728372 0.921471 NA 0.717 NA 2.1218614 1440 3 119373315 119373315 T C intronic POPDC2 NA NA NA intronic ENSG00000121577 NA NA NA NA NA 3q13.33 NA NA NA NA rs2688629 0.58 0.58 0.563 0.590855 0.6252 0.75 0.5447 0.3548 0.7434 0.64 0.72 0.56 0.36 0.6174 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1966 NA NA 0.636163 0.404222 NA 0.522 NA 2.121237 1440 19 49143025 49143025 T C ncRNA_intronic SEC1P NA NA NA ncRNA_intronic ENSG00000232871 NA NA NA NA NA 19q13.33 NA NA NA NA rs2303147 0.77 0.77 0.739 0.774561 0.8767 0.629 0.8184 0.761 0.8067 0.88 0.6 0.82 0.74 0.814 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.416037 NA NA 0.855465 0.785974 NA 0.775 NA 2.1205016 1440 8 17406183 17406183 A G intronic SLC7A2 NA NA NA intronic ENSG00000003989 NA NA NA NA NA 8p22 NA NA NA NA rs737039 0.58 0.58 0.553 0.520567 0.6491 0.5942 0.6614 0.348 0.4458 0.65 0.61 0.67 0.36 0.5912 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.126386 NA NA 0.639884 0.399228 NA 0.536 NA 2.119816 1440 13 110857823 110857823 C T intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs482757 0.59 0.59 0.599 0.59345 0.6233 0.7708 0.5187 0.3835 0.7168 0.61 0.76 0.56 0.38 0.6193 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4682 NA NA 0.638721 0.431684 NA 0.493 NA 2.118679 1440 2 86737649 86737649 G A intronic CHMP3,RNF103-CHMP3 NA NA NA intronic ENSG00000115561,ENSG00000249884 NA NA NA NA NA 2p11.2 NA NA NA NA rs966477 0.71 0.71 0.694 0.671326 0.6282 0.9375 0.6787 0.5711 0.5716 0.65 0.96 0.64 0.57 0.6474 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283742 NA NA 0.605814 0.570359 NA 0.652 NA 2.118586 1440 8 139151375 139151375 C T intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA NA NA NA rs4634694 0.58 0.58 0.555 0.546725 0.6412 0.5605 0.6268 0.385 0.5971 0.64 0.56 0.6 0.48 0.6119 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98067 NA NA 0.628375 0.436877 NA 0.688 NA 2.118525 1440 17 48469724 48469724 T C intronic LRRC59 NA NA NA intronic ENSG00000108829 NA NA NA NA NA 17q21.33 NA NA NA NA rs757509 0.49 0.49 0.478 0.483626 0.6471 0.2113 0.5965 0.4924 0.5041 0.65 0.21 0.6 0.5 0.5857 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047251 NA NA 0.64907 0.516341 NA 0.5 NA 2.11813 1440 1 209950681 209950681 T C intronic TRAF3IP3 NA NA NA intronic ENSG00000009790 NA NA NA NA NA 1q32.2 NA NA NA NA rs649275 0.64 0.64 0.589 0.613818 0.6243 0.6329 0.6729 0.5923 0.5706 0.62 0.67 0.68 0.61 0.6226 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.452183 NA NA 0.635116 0.564685 NA 0.587 NA 2.117984 1440 17 67109894 67109894 C T intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.3 NA NA NA NA rs9282552 0.43 0.43 0.407 0.455072 0.6431 0.3472 0.5504 0.2383 0.5982 0.64 0.29 0.52 0.22 0.5939 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.64864 NA NA 0.645034 0.323196 NA 0.428 NA 2.117966 1440 17 26092555 26092555 G A intronic NOS2 NA NA NA intronic ENSG00000007171 NA NA NA NA NA 17q11.2 NA NA NA NA rs2297512 0.69 0.69 0.714 0.730032 0.6123 0.6706 0.6484 0.8056 0.8681 0.6 0.69 0.68 0.84 0.6582 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59328 NA NA 0.611565 0.774076 NA 0.848 NA 2.117935 1440 1 45474157 45474157 G A intronic HECTD3 NA NA NA UTR5 ENSG00000126107 ENST00000372168:c.-96C>T NA NA NA NA 1p34.1 NA NA NA NA rs2298006 0.59 0.59 0.591 0.570088 0.7137 0.5853 0.4986 0.3828 0.7106 0.71 0.61 0.57 0.39 0.6394 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396659 NA NA 0.696262 0.427182 NA 0.435 NA 2.1173047 1440 1 2411451 2411451 A G intronic PLCH2 NA NA NA intronic ENSG00000149527 NA NA NA NA NA 1p36.32 NA NA NA NA rs10797428 0.64 0.64 0.603 0.65655 0.6203 0.7758 0.6585 0.5658 0.6922 0.6 0.76 0.67 0.56 0.6363 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.526078 NA NA 0.626248 0.609375 NA 0.514 NA 2.117152 1440 2 73650122 73650122 T A intronic ALMS1 NA NA NA intronic ENSG00000116127 NA NA NA NA NA 2p13.1 NA NA NA NA rs1881246 0.54 0.54 0.491 0.532748 0.6501 0.7877 0.562 0.1044 0.7076 0.64 0.76 0.59 0.1 0.6033 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.761652 1.761652 NA 0.630196 0.221983 NA 0.464 NA 2.116404 1440 13 110859743 110859743 C T intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs598893 0.59 0.59 0.566 0.596046 0.6233 0.7698 0.5216 0.3835 0.729 0.62 0.76 0.56 0.38 0.621 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137531 NA NA 0.639419 0.430549 NA 0.493 NA 2.116281 1440 8 17921921 17921921 T C intronic ASAH1 NA NA NA intronic ENSG00000104763 NA NA NA NA NA 8p22 NA NA NA NA rs2073574 0.58 0.58 0.592 0.566294 0.6421 0.4921 0.487 0.6831 0.4632 0.65 0.5 0.46 0.64 0.6009 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047984 NA NA 0.641643 0.671896 NA 0.609 NA 2.115357 1440 6 47684591 47684591 G A intronic GPR115 NA NA NA intronic ENSG00000153294 NA NA NA NA NA 6p12.3 NA NA NA NA rs1360157 0.49 0.49 0.49 0.51857 0.6352 0.3075 0.4308 0.4894 0.7178 0.63 0.3 0.49 0.49 0.5986 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197349 NA NA 0.65093 0.472991 NA 0.435 NA 2.11527 1440 19 15757927 15757927 T C intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs1290626 0.75 0.75 0.746 0.7502 0.6233 0.8492 0.745 0.8623 0.6309 0.63 0.85 0.72 0.84 0.6554 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176155 NA NA 0.606279 0.836813 NA 0.681 NA 2.115021 1441 18 203081 203081 A C intronic USP14 NA NA NA intronic ENSG00000101557 NA NA NA NA NA 18p11.32 NA NA NA NA rs471274 0.61 0.61 0.601 0.653155 0.6272 0.5397 0.7017 0.6059 0.8262 0.63 0.57 0.69 0.59 0.6471 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155652 NA NA 0.611279 0.578302 NA 0.645 NA 2.114421 1441 13 110857895 110857895 A G intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs677877 0.59 0.59 0.588 0.596446 0.6243 0.7708 0.5216 0.3843 0.728 0.62 0.76 0.56 0.38 0.6222 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853044 NA NA 0.640116 0.4335 NA 0.493 NA 2.113384 1441 20 257812 257812 T C intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA NA NA rs6046375 0.7 0.7 0.709 0.677516 0.6302 0.6935 0.5187 0.8775 0.5521 0.65 0.7 0.53 0.88 0.624 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574041 NA NA 0.632674 0.846119 NA 0.609 NA 2.113126 1441 22 50655098 50655098 A G intronic SELO NA NA NA intronic ENSG00000073169 NA NA NA NA NA 22q13.33 NA NA NA NA rs2272851 0.72 0.72 0.704 0.711661 0.6163 0.7659 0.5994 0.8888 0.5941 0.61 0.75 0.63 0.9 0.6627 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361108 NA NA 0.608432 0.858405 NA 0.696 NA 2.112568 1441 3 3189398 3189398 A G intronic TRNT1 NA NA NA intronic ENSG00000072756 NA NA NA NA NA 3p26.2 NA NA NA NA rs1669348 0.42 0.42 0.417 0.400759 0.6759 0.2163 0.4164 0.3018 0.4305 0.66 0.18 0.46 0.32 0.543 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071139 2.071139 NA 0.670323 0.392822 NA 0.558 NA 2.110777 1441 12 15073831 15073831 G C intronic ERP27 NA NA NA intronic ENSG00000139055 NA NA NA NA NA 12p12.3 NA NA NA NA rs2445382 0.68 0.68 0.68 0.680911 0.6203 0.8562 0.6066 0.6248 0.6912 0.63 0.87 0.59 0.6 0.6569 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359023 NA NA 0.612442 0.631412 NA 0.565 NA 2.110358 1441 16 3117937 3117937 G A intronic IL32 NA NA NA intronic ENSG00000008517 NA NA NA NA NA 16p13.3 NA NA NA NA rs2239303 0.57 0.57 0.573 0.563099 0.6262 0.495 0.5303 0.5787 0.5706 0.61 0.53 0.54 0.58 0.6079 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657431 NA NA 0.656279 0.598999 NA 0.601 NA 2.109621 1441 1 157485561 157485561 G A intronic FCRL5 NA NA NA intronic ENSG00000143297 NA NA NA NA NA 1q23.1 NA NA NA NA rs3811035 0.51 0.51 0.465 0.504792 0.6252 0.6558 0.6484 0.09 0.684 0.62 0.64 0.62 0.1 0.6255 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16307 NA NA 0.640116 0.172038 NA 0.464 NA 2.109184 1441 1 17736578 17736578 A G intronic RCC2 NA NA NA intronic ENSG00000179051 NA NA NA NA NA 1p36.13 NA NA NA NA rs2762890 0.63 0.63 0.626 0.63778 0.6093 0.5476 0.647 0.6929 0.6789 0.63 0.57 0.67 0.7 0.6427 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340776 NA NA 0.638953 0.69882 NA 0.609 NA 2.109047 1441 6 42928758 42928758 T G intronic GNMT NA NA NA intronic ENSG00000124713 NA NA NA NA NA 6p21.1 NA NA NA NA rs2296805 0.61 0.61 0.622 0.644968 0.5885 0.3075 0.6095 0.9697 0.637 0.6 0.33 0.59 0.96 0.6409 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097551 NA NA 0.662964 0.933274 NA 0.732 NA 2.107636 1441 10 127436411 127436411 T C intronic C10orf137 NA NA NA ncRNA_intronic ENSG00000236991 NA NA NA NA NA 10q26.13 NA NA NA NA rs2296832 0.71 0.71 0.701 0.70008 0.7485 0.8889 0.5187 0.5454 0.7935 0.76 0.88 0.55 0.53 0.7236 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039399 NA NA 0.755233 0.559691 NA 0.681 NA 2.1060003 1441 19 6732018 6732018 C T intronic GPR108 NA NA NA intronic ENSG00000125734 NA NA NA NA NA 19p13.3 NA NA NA NA rs2291666 0.55 0.55 0.526 0.510783 0.6441 0.5635 0.6369 0.323 0.4836 0.63 0.56 0.62 0.37 0.5991 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060923 NA NA 0.65138 0.388481 NA 0.449 NA 2.10542 1442 6 138197331 138197331 A C intronic TNFAIP3 NA NA NA intronic ENSG00000118503 NA NA NA NA NA 6q23.3 NA NA NA NA rs661561 0.56 0.56 0.524 0.533546 0.6412 0.8492 0.5706 0.1067 0.6483 0.65 0.83 0.55 0.11 0.6123 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464413 NA NA 0.641512 0.176577 NA 0.435 NA 2.104988 1442 2 209315573 209315573 G A intronic PTH2R NA NA NA intronic ENSG00000144407 NA NA NA NA NA 2q34 NA NA NA NA rs1370371 0.63 0.63 0.608 0.572684 0.6571 0.8671 0.6499 0.2247 0.5982 0.67 0.87 0.64 0.28 0.6119 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001659 NA NA 0.626628 0.267136 NA 0.543 NA 2.104372 1442 8 2054012 2054012 C T intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs12677887 0.48 0.48 0.454 0.441893 0.6581 0.3889 0.4899 0.2663 0.4775 0.67 0.38 0.5 0.28 0.576 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.487894 NA NA 0.66186 0.331139 NA 0.428 NA 2.10404 1442 10 3155428 3155428 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs3816701 0.59 0.59 0.57 0.568291 0.6551 0.8115 0.5634 0.2852 0.6145 0.66 0.82 0.51 0.28 0.611 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618208 NA NA 0.630814 0.305631 NA 0.58 NA 2.103086 1442 3 45772742 45772742 T C intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2531755 0.57 0.57 0.493 0.545527 0.6839 0.3839 0.5706 0.6498 0.411 0.7 0.34 0.58 0.62 0.5989 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074901 NA NA 0.614329 0.585416 ID=COSN166857;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.449 NA 2.102871 1442 12 6909442 6909442 T C intronic CD4 NA NA NA intronic ENSG00000010610 NA NA NA NA NA 12p13.31 NA NA NA NA rs2255301 0.63 0.63 0.65 0.571486 0.661 0.6161 0.5403 0.5643 0.4652 0.66 0.69 0.57 0.56 0.5998 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453155 NA NA 0.63686 0.599183 NA 0.717 NA 2.10234 1442 12 120995332 120995332 G A intronic RNF10 NA NA NA intronic ENSG00000022840 NA NA NA NA NA 12q24.31 NA NA NA NA rs2292681 0.56 0.56 0.538 0.523363 0.6262 0.749 0.6513 0.146 0.6043 0.63 0.76 0.63 0.18 0.6183 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.470726 NA NA 0.653837 0.212892 NA 0.478 NA 2.101663 1442 4 173232944 173232944 G T intronic GALNTL6 NA NA NA intronic ENSG00000174473 NA NA NA NA NA 4q34.1 NA NA NA NA rs168011 0.53 0.53 0.529 0.578874 0.6233 0.7827 0.6787 0.2269 0.728 0.55 0.71 0.63 0.22 0.64 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.084828 NA NA 0.635116 0.286655 NA 0.391 NA 2.101584 1442 20 44422705 44422705 G T intronic DNTTIP1 NA NA NA intronic ENSG00000101457 NA NA NA NA NA 20q13.12 NA NA NA NA rs6032545 0.55 0.55 0.528 0.495008 0.6521 0.5367 0.7032 0.2995 0.407 0.68 0.53 0.68 0.3 0.6002 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150564 NA NA 0.646279 0.364503 NA 0.486 NA 2.101421 1442 9 137328286 137328286 G A intronic RXRA NA NA NA intronic ENSG00000186350 NA NA NA NA NA 9q34.2 NA NA NA NA rs1805343 0.54 0.54 0.542 0.483027 0.663 0.6677 0.5735 0.1876 0.4427 0.66 0.66 0.55 0.22 0.588 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736003 NA NA 0.648953 0.266455 NA 0.58 NA 2.100047 1442 3 37512646 37512646 T C intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA NA NA 3p22.2 NA NA NA NA rs11713408 0.47 0.47 0.515 0.552716 0.665 0.4732 0.5504 0.5129 0.5746 0.54 0.4 0.54 0.4 0.6028 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306168 NA NA 0.632209 0.507717 ID=COSN166839;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 2.099991 1442 2 219353195 219353195 C T intronic USP37 NA NA NA intronic ENSG00000135913 NA NA NA NA NA 2q35 NA NA NA NA rs10932782 0.72 0.72 0.694 0.73722 0.6223 0.9048 0.6527 0.7436 0.7342 0.63 0.9 0.67 0.69 0.6612 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380785 NA NA 0.61686 0.731276 NA 0.63 NA 2.09964 1442 14 69695792 69695792 G A intronic EXD2 NA NA NA intronic ENSG00000081177 NA NA NA NA NA 14q24.1 NA NA NA NA rs3742899 0.75 0.75 0.739 0.78095 0.5964 0.9385 0.7752 0.7821 0.8108 0.6 0.93 0.74 0.79 0.6931 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.767266 1.767266 NA 0.611628 0.771448 NA 0.732 NA 2.098872 1442 2 10051053 10051053 G C intronic TAF1B NA NA NA intronic ENSG00000115750 NA NA NA NA NA 2p25.1 NA NA NA NA rs10495576 0.48 0.48 0.47 0.43151 0.6551 0.4514 0.536 0.1309 0.5133 0.64 0.48 0.57 0.15 0.5743 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94025 NA NA 0.671744 0.210395 NA 0.536 NA 2.098856 1442 19 56249445 56249445 A G intronic NLRP9 NA NA NA intronic ENSG00000185792 NA NA NA NA NA 19q13.42 NA NA NA NA rs755804 0.61 0.61 0.608 0.652955 0.6113 0.6052 0.5951 0.6732 0.7587 0.6 0.56 0.59 0.7 0.6355 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878309 NA NA 0.654651 0.67113 NA 0.659 NA 2.098549 1442 2 152404294 152404294 C T intronic NEB NA NA NA intronic ENSG00000183091 NA NA NA NA NA 2q23.3 NA NA NA NA rs2288201 0.68 0.68 0.679 0.624002 0.6342 0.748 0.6859 0.5991 0.4755 0.62 0.77 0.67 0.66 0.6402 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.035454 NA NA 0.627628 0.604545 NA 0.623 NA 2.097972 1442 3 37512647 37512647 G C intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA NA NA 3p22.2 NA NA NA NA rs11709385 0.47 0.47 0.514 0.552117 0.665 0.4722 0.5504 0.5129 0.5726 0.54 0.39 0.54 0.4 0.6025 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197719 NA NA 0.635349 0.511348 ID=COSN166840;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 2.097151 1442 8 136561153 136561153 A G intronic KHDRBS3 NA NA NA intronic ENSG00000131773 NA NA NA NA NA 8q24.23 NA NA NA NA rs11166602 0.6 0.6 0.555 0.586462 0.6292 0.7827 0.6297 0.3109 0.682 0.64 0.78 0.63 0.3 0.644 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780126 NA NA 0.630116 0.382433 NA 0.449 NA 2.096684 1442 18 48446953 48446953 C T intronic ME2 NA NA NA intronic ENSG00000082212 NA NA NA NA NA 18q21.2 NA NA NA NA rs674210 0.68 0.68 0.667 0.729233 0.6093 0.6498 0.7709 0.8132 0.7914 0.62 0.63 0.75 0.79 0.6789 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.929561 NA NA 0.616217 0.773058 NA 0.543 NA 2.095583 1443 8 2965209 2965209 A G intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA Name=9 NA rs1531351 0.96 0.96 0.955 0.953474 0.9732 0.9464 0.9755 0.9228 0.9663 0.97 0.96 0.98 0.91 0.9662 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05416 NA NA 0.966854 0.916892 NA 0.971 NA 2.093746 1443 1 2409892 2409892 A G intronic PLCH2 NA NA NA intronic ENSG00000149527 NA NA NA NA NA 1p36.32 NA NA NA NA rs12727342 0.69 0.69 0.661 0.707069 0.6292 0.7897 0.6671 0.7352 0.6922 0.61 0.78 0.67 0.71 0.6534 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339824 NA NA 0.626749 0.727231 NA 0.587 NA 2.090651 1443 3 37627112 37627112 T C intronic ITGA9 NA NA NA intronic ENSG00000144668 NA NA NA NA NA 3p22.2 NA NA NA NA rs1155741 0.66 0.66 0.658 0.59365 0.6501 0.746 0.6254 0.6301 0.3067 0.66 0.74 0.61 0.62 0.6117 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292056 NA NA 0.647916 0.651256 NA 0.652 NA 2.090284 1443 4 62599289 62599289 G A intronic LPHN3 NA NA NA intronic ENSG00000150471 NA NA NA NA NA 4q13.1 NA NA NA NA rs9312082 0.78 0.78 0.771 0.789936 0.6153 0.9454 0.768 0.8941 0.684 0.61 0.94 0.74 0.89 0.6933 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330152 NA NA 0.602526 0.859597 NA 0.638 NA 2.088874 1443 10 3155408 3155408 C T intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs3816700 0.6 0.6 0.587 0.582268 0.6551 0.8125 0.5677 0.3351 0.6145 0.66 0.82 0.51 0.34 0.6256 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333273 NA NA 0.630728 0.350204 NA 0.609 NA 2.088572 1443 11 1218128 1218128 G A intergenic MUC2,MUC5B dist=113711;dist=26167 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=55767;dist=26168 NA NA NA NA 11p15.5 NA NA NA NA rs28503875 0.42 0.42 0.405 0.478634 0.4046 0.3512 0.4409 0.5991 0.5501 0.41 0.28 0.41 0.6 0.4345 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.041737 NA NA 0.407716 0.556911 NA 0.442 NA 2.0865174 1443 12 133311944 133311944 T C intronic ANKLE2 NA NA NA intronic ENSG00000176915 NA NA NA NA NA 12q24.33 NA NA NA NA rs10747081 0.68 0.68 0.68 0.646366 0.6531 0.7976 0.6916 0.5439 0.59 0.66 0.8 0.68 0.58 0.6488 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800153 NA NA 0.611779 0.592487 NA 0.667 NA 2.086321 1443 2 3599700 3599700 G T intronic RNASEH1 NA NA NA intronic ENSG00000171865 NA NA NA NA NA 2p25.3 NA NA NA NA rs7563960 0.62 0.62 0.661 0.632588 0.66 0.4206 0.562 0.8805 0.5378 0.66 0.39 0.54 0.91 0.6131 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040081 NA NA 0.641163 0.857694 NA 0.754 NA 2.085737 1444 5 118532034 118532034 A C intronic DMXL1 NA NA NA intronic ENSG00000172869 NA NA NA NA NA 5q23.1 NA NA NA NA rs6595178 0.71 0.71 0.71 0.710064 0.6064 0.9583 0.7075 0.5825 0.7352 0.61 0.97 0.67 0.61 0.682 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169644 NA NA 0.626628 0.605132 NA 0.601 NA 2.084972 1444 19 58485439 58485439 C T intronic C19orf18 NA NA NA intronic ENSG00000177025 NA NA NA NA NA 19q13.43 NA NA NA NA rs257676 0.74 0.74 0.747 0.722843 0.6282 0.7192 0.6873 0.9758 0.5072 0.63 0.74 0.7 0.96 0.6532 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0005 NA NA 0.634419 0.923967 NA 0.746 NA 2.084181 1444 4 109762918 109762918 C A intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs11942576 0.62 0.62 0.599 0.672724 0.6292 0.6766 0.7176 0.5651 0.8272 0.64 0.62 0.69 0.54 0.6598 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502533 NA NA 0.628055 0.557003 NA 0.761 NA 2.082945 1444 15 28228644 28228644 G A intronic OCA2 NA NA NA intronic ENSG00000104044 NA NA NA NA NA 15q13.1 NA NA NA NA rs12910433 0.37 0.37 0.303 0.321286 0.671 0.1538 0.4597 0.1097 0.3221 0.68 0.12 0.47 0.11 0.546 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40879 NA NA 0.700116 0.202451 NA 0.457 NA 2.082884 1444 17 74015590 74015590 C T intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2244371 0.64 0.64 0.599 0.657947 0.6183 0.751 0.6297 0.5658 0.7474 0.63 0.74 0.62 0.54 0.6551 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.161262 2.161262 NA 0.644302 0.581934 NA 0.63 NA 2.082298 1444 3 183756808 183756808 G A UTR3 HTR3D NM_182537:c.*45G>A,NM_001145143:c.*45G>A,NM_001163646:c.*45G>A NA NA UTR3 ENSG00000186090 ENST00000334128:c.*45G>A,ENST00000382489:c.*45G>A,ENST00000453435:c.*45G>A NA NA NA NA 3q27.1 NA NA NA NA rs6789882 0.86 0.86 0.863 0.859824 0.7505 0.9821 0.83 0.9834 0.7004 0.73 0.99 0.8 0.97 0.7683 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75523 NA NA 0.73314 0.944167 NA 0.942 NA 2.0813934 1444 2 73828310 73828310 T C intronic ALMS1 NA NA NA intronic ENSG00000116127 NA NA NA NA NA 2p13.1 NA NA NA NA rs1320374 0.56 0.56 0.488 0.552915 0.6551 0.7599 0.6974 0.1384 0.6922 0.64 0.72 0.69 0.14 0.6244 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244924 NA NA 0.639316 0.268681 NA 0.457 NA 2.081184 1444 17 72862705 72862705 G A intronic FDXR NA NA NA intronic ENSG00000161513 NA NA NA NA NA 17q25.1 NA NA NA NA rs2070918 0.47 0.47 0.476 0.449481 0.659 0.2589 0.585 0.3472 0.4724 0.66 0.27 0.59 0.32 0.5912 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335044 NA NA 0.670312 0.385332 NA 0.529 NA 2.079488 1444 1 240421383 240421383 G A intronic FMN2 NA NA NA intronic ENSG00000155816 NA NA NA NA NA 1q43 NA NA NA NA rs10926181 0.78 0.78 0.774 0.768171 0.6103 0.8403 0.7795 0.9539 0.5971 0.63 0.84 0.8 0.94 0.6819 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.33229 1.33229 NA 0.628698 0.90168 NA 0.725 NA 2.079102 1444 21 34635065 34635065 C T intronic IFNAR2 NA NA NA UTR3 ENSG00000159110 ENST00000404220:c.*44C>T NA NA NA NA 21q22.11 NA NA NA NA rs9984273 0.75 0.75 0.704 0.73722 0.6829 0.8978 0.8112 0.5719 0.7986 0.69 0.94 0.79 0.57 0.7268 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343937 NA NA 0.677956 0.614719 NA 0.688 NA 2.0790107 1444 1 26310394 26310394 A G intronic PAFAH2 NA NA NA intronic ENSG00000158006 NA NA NA NA NA 1p36.11 NA NA NA NA rs2275102 0.57 0.57 0.53 0.546725 0.6561 0.7113 0.6902 0.1596 0.6861 0.69 0.69 0.68 0.18 0.6315 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533272 NA NA 0.633488 0.243759 NA 0.442 NA 2.078912 1444 1 231487017 231487017 T C intronic SPRTN NA NA NA intronic ENSG00000010072 NA NA NA NA NA 1q42.2 NA NA NA NA rs2474634 0.56 0.56 0.512 0.53135 0.663 0.5308 0.5216 0.407 0.5716 0.68 0.55 0.56 0.36 0.6108 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.473078 1.473078 NA 0.648256 0.438919 NA 0.225 NA 2.077944 1444 10 135352509 135352509 T A UTR3 CYP2E1 NM_000773:c.*41T>A NA NA UTR3 ENSG00000130649 ENST00000463117:c.*41T>A,ENST00000252945:c.*41T>A NA NA NA NA 10q26.3 NA NA NA NA rs2480257 0.55 0.55 0.507 0.502995 0.7654 0.5258 0.6369 0.1293 0.6196 0.76 0.54 0.63 0.16 0.6987 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130685 NA NA 0.792791 0.208579 NA 0.457 NA 2.0764424 1444 1 108292260 108292260 A G intronic VAV3 NA NA NA intronic ENSG00000134215 NA NA NA NA NA 1p13.3 NA NA NA NA rs6672483 0.75 0.75 0.74 0.77476 0.6133 0.9563 0.8098 0.6921 0.8405 0.63 0.98 0.78 0.65 0.7028 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782654 NA NA 0.608149 0.676431 NA 0.652 NA 2.075751 1444 17 74015595 74015595 T C intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2244370 0.65 0.65 0.604 0.666733 0.6193 0.7579 0.6311 0.5923 0.7474 0.63 0.74 0.63 0.57 0.6603 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527322 1.527322 NA 0.645116 0.613936 NA 0.645 NA 2.075284 1445 21 45837790 45837790 T C intronic TRPM2 NA NA NA ncRNA_intronic ENSG00000230061 NA NA NA NA NA 21q22.3 NA NA NA NA rs1785452 0.71 0.71 0.683 0.680911 0.7704 0.7778 0.7752 0.5061 0.6585 0.76 0.78 0.77 0.51 0.7326 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.375072 NA NA 0.755525 0.554471 NA 0.536 NA 2.0748083 1445 1 145535921 145535921 T C intronic ITGA10,NBPF10 NA NA NA intronic ENSG00000143127 NA NA NA NA NA 1q21.1 NA NA NA NA rs2274617 0.6 0.6 0.599 0.58766 0.6581 0.4454 0.5922 0.7141 0.4877 0.64 0.45 0.62 0.72 0.6091 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275954 NA NA 0.658721 0.686337 NA 0.565 NA 2.074079 1445 1 16372003 16372003 G C intronic CLCNKB NA NA NA intronic ENSG00000184908 NA NA NA NA NA 1p36.13 NA NA NA NA rs6604910 0.6 0.6 0.58 0.566494 0.6571 0.7004 0.6902 0.2284 0.7045 0.67 0.74 0.69 0.27 0.626 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383458 NA NA 0.642907 0.283477 NA 0.536 NA 2.073993 1445 19 19453521 19453521 T G intronic MAU2 NA NA NA intronic ENSG00000129933 NA NA NA NA NA 19p13.11 NA NA NA NA rs2965191 0.58 0.58 0.507 0.524361 0.674 0.6677 0.5432 0.348 0.4479 0.68 0.66 0.56 0.33 0.6001 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979859 NA NA 0.651979 0.38348 NA 0.37 NA 2.073921 1445 8 86171786 86171786 T C intronic CA13 NA NA NA intronic ENSG00000185015 NA NA NA NA NA 8q21.2 NA NA NA NA rs4739698 0.55 0.55 0.546 0.549121 0.662 0.4187 0.5259 0.559 0.5706 0.66 0.43 0.54 0.54 0.6119 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01612 NA NA 0.652674 0.570359 NA 0.558 NA 2.073426 1445 3 66432680 66432680 A G intronic LRIG1 NA NA NA intronic ENSG00000144741,ENSG00000144749 NA NA NA NA NA 3p14.1 NA NA NA NA rs332371 0.77 0.77 0.772 0.776358 0.6421 0.8185 0.7147 0.9312 0.7055 0.66 0.81 0.72 0.93 0.6811 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197909 NA NA 0.604302 0.881298 NA 0.797 NA 2.072498 1445 5 156899290 156899290 T C intronic NIPAL4 NA NA NA intronic ENSG00000135074,ENSG00000172548 NA NA NA NA NA 5q33.3 NA NA NA NA rs9313607 0.69 0.69 0.707 0.715455 0.6173 0.753 0.611 0.7935 0.7464 0.63 0.73 0.59 0.79 0.6699 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584823 NA NA 0.640481 0.797653 NA 0.667 NA 2.072319 1445 2 197171183 197171183 C T intronic HECW2 NA NA NA intronic ENSG00000138411 NA NA NA NA NA 2q32.3 NA NA NA NA rs12468199 0.58 0.58 0.531 0.539337 0.671 0.7817 0.6945 0.1505 0.5695 0.67 0.78 0.63 0.17 0.6207 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92367 NA NA 0.636512 0.21153 NA 0.42 NA 2.071788 1445 21 46047971 46047971 T C UTR3 KRTAP10-9 NM_198690:c.*4T>C NA NA UTR3 ENSG00000221837 ENST00000397911:c.*4T>C NA NA NA NA 21q22.3 NA NA NA NA rs463217 0.77 0.77 0.741 0.785743 0.7763 0.7103 0.7493 0.8714 0.7832 0.77 0.69 0.77 0.85 0.756 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418593 NA NA 0.730715 0.851526 NA 0.486 NA 2.0703184 1445 1 36887702 36887702 C T intronic OSCP1 NA NA NA intronic ENSG00000116885 NA NA NA NA NA 1p34.3 NA NA NA NA rs2236565 0.67 0.67 0.675 0.706669 0.6282 0.6845 0.5288 0.8351 0.7628 0.63 0.63 0.6 0.83 0.6545 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353384 NA NA 0.647209 0.814571 NA 0.638 NA 2.070091 1445 15 75664570 75664570 A T intronic SIN3A NA NA NA intronic ENSG00000169375 NA NA NA NA NA 15q24.2 NA NA NA NA rs4886696 0.49 0.49 0.084 0.58726 0.7147 0.5565 0.7478 0.4175 0.6033 0.6 0.45 0.63 0.28 0.6939 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.80714 NA NA 0.522378 0.244053 NA NA NA 2.069022 1445 19 19453560 19453560 C A intronic MAU2 NA NA NA intronic ENSG00000129933 NA NA NA NA NA 19p13.11 NA NA NA NA rs2301669 0.58 0.58 0.542 0.524361 0.674 0.6677 0.5432 0.348 0.4479 0.68 0.66 0.56 0.33 0.6001 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914846 NA NA 0.656891 0.398593 NA 0.5 NA 2.069009 1445 12 123794450 123794450 A T intronic SBNO1 NA NA NA intronic ENSG00000139697 NA NA NA NA NA 12q24.31 NA NA NA NA rs2277343 0.49 0.49 0.427 0.493011 0.664 0.6994 0.5836 0.0567 0.6299 0.62 0.65 0.56 0.07 0.618 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.542474 NA NA 0.649557 0.130055 NA 0.384 NA 2.068443 1445 21 33371540 33371540 T G UTR3 HUNK NM_014586:c.*43T>G NA NA UTR3 ENSG00000142149 ENST00000270112:c.*43T>G NA NA NA NA 21q22.11 NA NA NA NA rs2070372 0.69 0.69 0.667 0.676118 0.7584 0.6667 0.696 0.5643 0.7382 0.77 0.69 0.65 0.57 0.7311 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752094 NA NA 0.775637 0.629748 NA 0.696 NA 2.0681964 1445 12 124268458 124268458 A G intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs7303002 0.79 0.79 0.781 0.800719 0.6451 0.997 0.7262 0.829 0.773 0.64 1 0.73 0.82 0.6825 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308727 NA NA 0.604767 0.786201 NA 0.667 NA 2.067633 1445 17 73752999 73752999 C G intronic ITGB4 NA NA NA intronic ENSG00000108479,ENSG00000132470 NA NA NA NA NA 17q25.1 NA NA NA NA rs2249613 0.65 0.65 0.654 0.686102 0.6431 0.6567 0.5576 0.7837 0.7198 0.65 0.61 0.56 0.79 0.6484 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146993 NA NA 0.643239 0.719927 NA 0.681 NA 2.065261 1446 10 135352514 135352514 A G UTR3 CYP2E1 NM_000773:c.*46A>G NA NA UTR3 ENSG00000130649 ENST00000463117:c.*46A>G,ENST00000252945:c.*46A>G NA NA NA NA 10q26.3 NA NA NA NA rs2480256 0.58 0.58 0.537 0.542332 0.7654 0.5248 0.6499 0.2731 0.6186 0.76 0.53 0.65 0.29 0.7101 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.974484 NA NA 0.792907 0.316387 NA 0.514 NA 2.0649264 1446 19 43920443 43920443 C G intronic TEX101 NA NA NA intronic ENSG00000131126 NA NA NA NA NA 19q13.31 NA NA NA NA rs3810375 0.71 0.71 0.7 0.712061 0.6352 0.7946 0.6095 0.7882 0.6759 0.64 0.78 0.63 0.79 0.66 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216975 NA NA 0.640233 0.75783 NA 0.696 NA 2.064567 1446 17 41063466 41063466 T C UTR3 G6PC NM_001270397:c.*489T>C,NM_000151:c.*23T>C NA NA UTR3 ENSG00000131482 ENST00000253801:c.*23T>C,ENST00000585489:c.*489T>C NA NA NA NA 17q21.31 NA NA NA NA rs2229611 0.65 0.65 0.646 0.638379 0.7744 0.4623 0.6182 0.671 0.6503 0.78 0.47 0.65 0.67 0.7124 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039557 NA NA 0.783096 0.698496 NA 0.674 NA 2.0634374 1446 4 69416353 69416353 T A intronic UGT2B17 NA NA NA intronic ENSG00000197888 NA NA NA NA NA 4q13.2 NA NA NA NA rs62316988 0.45 0.45 0.413 0.530351 0.7217 0.7748 0.4971 0.1422 0.6299 0.66 0.44 0.48 0.13 0.5731 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040048 NA NA 0.642306 0.180642 NA 0.239 NA 2.062894 1446 4 158242540 158242540 G A intronic GRIA2 NA NA NA intronic ENSG00000120251 NA NA NA NA NA 4q32.1 NA NA NA NA rs4475186 0.67 0.67 0.63 0.659345 0.6252 0.7897 0.7522 0.4841 0.7311 0.64 0.82 0.73 0.5 0.6664 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363497 NA NA 0.645615 0.511126 NA 0.623 NA 2.062785 1446 4 141555062 141555062 G T intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA NA NA 4q31.21 NA NA NA NA rs6851737 0.69 0.69 0.661 0.698882 0.666 0.6319 0.7003 0.7648 0.7117 0.66 0.61 0.73 0.78 0.6539 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97503 NA NA 0.6174 0.727501 NA 0.732 NA 2.0627 1446 11 828784 828784 A G intronic EFCAB4A NA NA NA ncRNA_intronic ENSG00000255108 NA NA NA NA NA 11p15.5 NA NA NA NA rs28507876 0.85 0.85 0.835 0.785144 0.7465 0.9107 0.8271 0.9062 0.502 0.76 0.93 0.82 0.91 0.7683 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19463 NA NA 0.757299 0.892054 NA 0.87 NA 2.0612343 1446 12 125453235 125453235 C A intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs11057940 0.74 0.74 0.746 0.727436 0.6292 0.8393 0.6297 0.7988 0.6861 0.64 0.86 0.65 0.8 0.6815 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781551 NA NA 0.628372 0.770086 NA 0.732 NA 2.060928 1446 17 67160186 67160186 T C intronic ABCA10 NA NA NA intronic ENSG00000154263 NA NA NA NA NA 17q24.3 NA NA NA NA rs7208382 0.46 0.46 0.437 0.488219 0.665 0.3631 0.5648 0.3011 0.6339 0.66 0.31 0.54 0.29 0.6134 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808511 NA NA 0.660802 0.38788 NA 0.478 NA 2.060798 1446 4 8221058 8221058 G A intronic SH3TC1 NA NA NA intronic ENSG00000125089 NA NA NA NA NA 4p16.1 NA NA NA NA rs4696782 0.7 0.7 0.698 0.684305 0.6402 0.7808 0.7421 0.6513 0.6339 0.65 0.82 0.7 0.66 0.6783 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419177 NA NA 0.620754 0.644253 NA 0.587 NA 2.060746 1446 2 37010574 37010574 G A intronic VIT NA NA NA intronic ENSG00000205221 NA NA NA NA NA 2p22.2 NA NA NA NA rs3821147 0.57 0.57 0.532 0.496605 0.669 0.7778 0.7104 0.0946 0.4213 0.66 0.79 0.7 0.1 0.609 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.406226 4.406226 NA 0.661977 0.181798 NA 0.514 NA 2.060023 1446 5 157164889 157164889 T C intronic THG1L NA NA NA intronic ENSG00000113272 NA NA NA NA NA 5q33.3 NA NA NA NA rs2270813 0.64 0.64 0.645 0.653355 0.6471 0.8185 0.5043 0.5605 0.7209 0.66 0.8 0.54 0.5 0.6462 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.798029 NA NA 0.647127 0.559946 NA 0.514 NA 2.059573 1446 14 100813077 100813077 T C intronic WARS NA NA NA ncRNA_intronic ENSG00000258666 NA NA NA NA NA 14q32.2 NA NA NA NA rs941923 0.71 0.71 0.652 0.697085 0.7734 0.755 0.8372 0.444 0.8016 0.78 0.77 0.84 0.44 0.7513 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.625738 NA NA 0.749419 0.501816 NA 0.601 NA 2.0592143 1446 14 57101682 57101682 A G intronic TMEM260 NA NA NA ncRNA_intronic ENSG00000258428 NA NA NA NA NA 14q22.3 NA NA NA NA rs913742 0.7 0.7 0.689 0.682308 0.7565 0.7143 0.7867 0.528 0.7076 0.75 0.75 0.74 0.54 0.7476 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75395 NA NA 0.771512 0.579664 NA 0.696 NA 2.0577213 1446 5 101726648 101726648 C A intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs6874612 0.57 0.57 0.541 0.585463 0.6531 0.4613 0.5331 0.6672 0.5706 0.62 0.49 0.54 0.61 0.6396 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.125057 NA NA 0.649721 0.650023 NA 0.522 NA 2.057579 1446 1 204006597 204006597 G A ncRNA_exonic LINC00303 NA NA NA ncRNA_exonic ENSG00000176754 NA NA NA NA NA 1q32.1 NA NA NA NA rs4951039 0.88 0.88 0.879 0.864417 0.8688 0.755 0.9409 0.9372 0.82 0.88 0.78 0.94 0.94 0.8688 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457274 NA 1 0.873124 0.938051 ID=COSN163406;OCCURENCE=1(breast) 0.761 NA 2.0559426 1446 5 145197411 145197411 C T intronic PRELID2 NA NA NA intronic ENSG00000186314 NA NA NA NA NA 5q32 NA NA NA NA rs6870210 0.45 0.45 0.409 0.424321 0.6879 0.2798 0.5692 0.1944 0.5102 0.69 0.27 0.58 0.2 0.5789 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.524002 NA NA 0.677442 0.268724 NA 0.514 NA 2.055758 1446 13 101289998 101289998 C A intronic TMTC4 NA NA NA intronic ENSG00000125247 NA NA NA NA NA 13q32.3 NA NA NA NA rs7985718 0.7 0.7 0.67 0.685703 0.6481 0.9831 0.6124 0.4871 0.7382 0.64 0.99 0.62 0.52 0.6709 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049667 NA NA 0.625581 0.515433 NA 0.652 NA 2.055419 1447 10 118359548 118359548 T C intronic PNLIPRP1 NA NA NA intronic ENSG00000187021 NA NA NA NA NA 10q25.3 NA NA NA NA rs3816355 0.67 0.67 0.66 0.64397 0.6412 0.9444 0.6081 0.4251 0.6585 0.65 0.94 0.6 0.45 0.6626 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.401703 1.401703 NA 0.641744 0.455742 NA 0.609 NA 2.054456 1447 19 41863777 41863777 A C intronic B9D2 NA NA NA intronic ENSG00000123810,ENSG00000142046 NA NA NA NA NA 19q13.2 NA NA NA NA rs11668109 0.52 0.52 0.529 0.52476 0.664 0.1528 0.4971 0.7126 0.5307 0.67 0.16 0.55 0.69 0.6073 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.129595 NA NA 0.674302 0.71153 NA 0.601 NA 2.054398 1447 11 1158073 1158073 T C intergenic MUC2,MUC5B dist=53656;dist=86222 NA NA exonic ENSG00000215182 NA synonymous SNV ENSG00000215182:ENST00000534821:exon9:c.T1053C:p.C351C,ENSG00000215182:ENST00000356191:exon14:c.T1044C:p.C348C NA NA 11p15.5 NA NA NA NA rs28691231 0.88 0.88 0.873 0.891973 0.7992 0.997 0.9035 0.8389 0.9427 0.8 1 0.88 0.84 0.8547 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166608 NA NA 0.792358 0.832377 NA 0.877 NA 2.053742 1447 20 2597978 2597978 G A intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs4815428 0.52 0.52 0.507 0.489816 0.662 0.5575 0.621 0.1513 0.6074 0.65 0.56 0.63 0.2 0.6184 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231919 NA 0.01 0.666512 0.231276 NA 0.406 NA 2.053088 1447 12 125456004 125456004 C A intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs4542508 0.73 0.73 0.733 0.722644 0.6312 0.8403 0.6254 0.7791 0.6881 0.64 0.86 0.65 0.78 0.6882 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473951 NA NA 0.62785 0.747617 NA 0.71 NA 2.05275 1447 12 6458084 6458084 C T intronic SCNN1A NA NA NA intronic ENSG00000111319 NA NA NA NA NA 12p13.31 NA NA NA NA rs3764875 0.68 0.68 0.645 0.653155 0.6431 0.8016 0.7464 0.5401 0.5971 0.64 0.81 0.7 0.59 0.6547 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459682 NA NA 0.650233 0.5665 NA 0.652 NA 2.051967 1447 3 45772772 45772772 G A intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2673055 0.57 0.57 0.546 0.545527 0.6839 0.3839 0.5706 0.6498 0.411 0.7 0.34 0.58 0.62 0.6029 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605828 NA NA 0.663372 0.627099 ID=COSN166859;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.507 NA 2.049828 1447 19 33349488 33349488 T C intronic SLC7A9 NA NA NA intronic ENSG00000021488 NA NA NA NA NA 19q13.11 NA NA NA NA rs2287879 0.76 0.76 0.813 0.767772 0.668 0.8512 0.536 0.9592 0.6902 0.66 0.87 0.57 0.94 0.663 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83678 NA NA 0.619535 0.903541 NA 0.775 NA 2.049465 1447 3 142567327 142567327 G A intronic PCOLCE2 NA NA NA intronic ENSG00000163710 NA NA NA NA NA 3q23 NA NA NA NA rs893883 0.56 0.56 0.554 0.527756 0.6958 0.3304 0.4899 0.6218 0.4581 0.69 0.34 0.53 0.62 0.5927 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316397 1.316397 NA 0.663526 0.617113 NA 0.572 NA 2.047974 1447 8 141034189 141034189 A T intronic TRAPPC9 NA NA NA intronic ENSG00000167632 NA NA NA NA NA 8q24.3 NA NA NA NA rs9792174 0.59 0.59 0.52 0.538339 0.6809 0.5982 0.5375 0.4039 0.5123 0.68 0.62 0.59 0.43 0.6308 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052798 NA NA 0.640465 0.437131 NA 0.493 NA 2.047835 1447 1 3782608 3782608 C T intronic DFFB NA NA NA intronic ENSG00000169598 NA NA NA NA NA 1p36.32 NA NA NA NA rs10909809 0.47 0.47 0.455 0.434305 0.6511 0.3095 0.5346 0.2693 0.4918 0.65 0.33 0.52 0.32 0.5975 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670815 NA NA 0.703745 0.373757 NA 0.471 NA 2.047655 1447 15 80472431 80472431 C A intronic FAH NA NA NA intronic ENSG00000103876 NA NA NA NA NA 15q25.1 NA NA NA NA rs2043691 0.68 0.68 0.711 0.670327 0.668 0.8542 0.5317 0.5469 0.7485 0.68 0.86 0.58 0.57 0.6557 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330983 NA NA 0.628721 0.526328 NA 0.659 NA 2.047579 1447 19 8528310 8528310 A G intronic HNRNPM NA NA NA intronic ENSG00000099783 NA NA NA NA NA 19p13.2 NA NA NA NA rs8102587 0.89 0.89 0.861 0.86861 0.9761 0.9812 0.9409 0.5756 0.9867 0.98 0.99 0.96 0.57 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342329 NA NA 0.976744 0.598266 NA 0.833 NA 2.047156 1447 19 8551852 8551852 A G intronic HNRNPM NA NA NA intronic ENSG00000099783 NA NA NA NA NA 19p13.2 NA NA NA NA rs11669139 0.9 0.9 0.868 0.882788 0.9761 0.9812 0.9481 0.6256 0.9867 0.98 0.99 0.96 0.61 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811529 NA NA 0.977373 0.658237 NA 0.855 NA 2.046527 1448 3 45761115 45761115 G C intronic SACM1L NA NA NA intronic ENSG00000211456 NA NA NA NA NA 3p21.31 NA NA NA NA rs2064062 0.57 0.57 0.571 0.545527 0.6839 0.3839 0.5706 0.6498 0.411 0.7 0.34 0.58 0.62 0.6079 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252105 NA NA 0.663643 0.628461 ID=COSN166854;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.507 NA 2.044557 1448 3 97887495 97887495 C G upstream OR5H15 NA NA NA upstream ENSG00000233412 NA NA NA NA NA 3q11.2 NA NA NA NA rs10212222 0.63 0.63 0.64 0.641573 0.5388 0.5079 0.5922 0.8986 0.5726 0.54 0.56 0.54 0.89 0.5611 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96413 NA NA 0.523189 0.831935 NA 0.558 NA 2.0435776 1448 14 21960408 21960408 A G intronic TOX4 NA NA NA intronic ENSG00000092203 NA NA NA NA NA 14q11.2 NA NA NA NA rs3737050 0.66 0.66 0.663 0.660942 0.6571 0.7024 0.6268 0.6755 0.6268 0.65 0.7 0.65 0.62 0.6446 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.826571 NA NA 0.654868 0.701038 NA 0.732 NA 2.043432 1448 21 47616071 47616071 G C intronic LSS NA NA NA intronic ENSG00000160285 NA NA NA NA NA 21q22.3 NA NA NA NA rs7282841 0.62 0.62 0.624 0.598842 0.673 0.6835 0.5231 0.5424 0.5654 0.68 0.72 0.53 0.5 0.6268 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061088 NA NA 0.65686 0.550159 NA 0.703 NA 2.04334 1448 19 2389958 2389958 T A intronic TMPRSS9 NA NA NA intronic ENSG00000178297 NA NA NA NA NA 19p13.3 NA NA NA NA rs891176 0.58 0.58 0.586 0.584065 0.668 0.4474 0.4352 0.6543 0.6493 0.66 0.44 0.5 0.67 0.6205 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06041 NA NA 0.669535 0.612574 NA 0.529 NA 2.041965 1448 17 19609947 19609947 C G intronic SLC47A2 NA NA NA intronic ENSG00000180638 NA NA NA NA NA 17p11.2 NA NA NA NA rs12942065 0.74 0.74 0.73 0.759185 0.6223 0.9544 0.7233 0.7209 0.7761 0.62 0.94 0.7 0.71 0.6932 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78896 NA NA 0.642907 0.70404 NA 0.717 NA 2.041593 1448 9 130289615 130289615 C G intronic FAM129B NA NA NA intronic ENSG00000136830 NA NA NA NA NA 9q33.3 NA NA NA NA rs2243558 0.59 0.59 0.532 0.577276 0.6819 0.4028 0.6873 0.5923 0.5511 0.69 0.41 0.67 0.6 0.6307 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05346 NA NA 0.645814 0.632547 NA 0.565 NA 2.041586 1448 19 2389954 2389954 G A intronic TMPRSS9 NA NA NA intronic ENSG00000178297 NA NA NA NA NA 19p13.3 NA NA NA NA rs891175 0.58 0.58 0.596 0.584065 0.668 0.4474 0.4352 0.6543 0.6493 0.66 0.44 0.5 0.67 0.6208 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.966088 NA NA 0.669651 0.612801 NA 0.529 NA 2.041549 1448 17 48276971 48276971 G C intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA NA NA NA rs2256835 0.53 0.53 0.513 0.518171 0.662 0.6478 0.5303 0.2216 0.6288 0.67 0.62 0.52 0.23 0.6187 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.716602 1.716602 NA 0.679302 0.306627 NA 0.449 NA 2.039998 1448 7 92027187 92027187 A G intronic ANKIB1 NA NA NA intronic ENSG00000001629 NA NA NA NA NA 7q21.2 NA NA NA NA rs38793 0.71 0.71 0.715 0.727236 0.6491 0.8333 0.6643 0.761 0.6973 0.65 0.82 0.64 0.73 0.6767 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.026305 2.026305 NA 0.63462 0.733183 NA 0.645 NA 2.03958 1448 6 109982160 109982160 C T intronic AK9 NA NA NA intronic ENSG00000155085 NA NA NA NA NA 6q21 NA NA NA NA rs2016207 0.63 0.63 0.595 0.652157 0.6431 0.8472 0.7305 0.3238 0.8487 0.65 0.85 0.69 0.32 0.6786 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662636 NA NA 0.638875 0.353714 NA 0.536 NA 2.039425 1448 5 101795490 101795490 A G intronic SLCO6A1 NA NA NA intronic ENSG00000205359 NA NA NA NA NA 5q21.1 NA NA NA NA rs11746217 0.6 0.6 0.558 0.586462 0.6551 0.4613 0.5331 0.6672 0.5736 0.65 0.5 0.57 0.65 0.641 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451068 NA NA 0.664535 0.669995 NA 0.565 NA 2.039365 1448 17 19319015 19319015 C T intronic RNF112 NA NA NA intronic ENSG00000128482 NA NA NA NA NA 17p11.2 NA NA NA NA rs1295329 0.39 0.39 0.383 0.327276 0.7217 0.12 0.4813 0.0575 0.3906 0.72 0.13 0.55 0.05 0.547 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66806 NA NA 0.693146 0.189528 NA 0.42 NA 2.038154 1448 17 81050982 81050982 G C intronic METRNL NA NA NA intronic ENSG00000176845 NA NA NA NA NA 17q25.3 NA NA NA NA rs7501742 0.56 0.56 0.594 0.565495 0.665 0.4415 0.5159 0.556 0.6391 0.66 0.39 0.56 0.6 0.624 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04157 NA NA 0.67318 0.567635 NA 0.558 NA 2.03782 1448 2 15616030 15616030 C T intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs1990756 0.49 0.49 0.479 0.492013 0.6909 0.1696 0.6009 0.5174 0.5082 0.67 0.19 0.59 0.47 0.5908 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922086 NA NA 0.681903 0.541307 NA 0.645 NA 2.036397 1448 2 207833848 207833848 A G intronic CPO NA NA NA intronic ENSG00000144410 NA NA NA NA NA 2q33.3 NA NA NA NA rs7582092 0.63 0.63 0.669 0.623203 0.667 0.5635 0.4539 0.789 0.5358 0.66 0.58 0.49 0.75 0.6246 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178355 NA NA 0.672209 0.753972 NA 0.739 NA 2.036191 1448 10 98319367 98319367 A T intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs3818389 0.63 0.63 0.621 0.600839 0.6461 0.8304 0.5389 0.3411 0.7127 0.66 0.87 0.57 0.35 0.6564 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74224 NA NA 0.66147 0.391136 NA 0.616 NA 2.03603 1449 2 15616013 15616013 C G intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs1990755 0.49 0.49 0.477 0.492812 0.6909 0.1696 0.6009 0.5174 0.5123 0.67 0.19 0.59 0.47 0.5941 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398322 NA NA 0.682442 0.541988 NA 0.652 NA 2.032558 1449 12 52711450 52711450 T C intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs2248619 0.71 0.71 0.72 0.717851 0.6441 0.6776 0.585 0.8956 0.6892 0.64 0.67 0.64 0.9 0.6663 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969571 NA NA 0.657442 0.874716 NA 0.63 NA 2.032158 1449 2 141709419 141709419 T G intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs1429348 0.55 0.55 0.518 0.536542 0.6441 0.6587 0.6326 0.2776 0.5818 0.65 0.65 0.59 0.26 0.6465 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.236998 3.236998 NA 0.678256 0.353155 NA 0.58 NA 2.031144 1449 2 65200618 65200618 C A intergenic LOC400958,SLC1A4 dist=41037;dist=14961 NA NA intergenic ENSG00000227394,ENSG00000115902 dist=12850;dist=15006 NA NA NA NA 2p14 NA NA NA NA rs4671636 0.51 0.51 0.516 0.539137 0.4165 0.4524 0.4841 0.7156 0.5552 0.43 0.45 0.46 0.73 0.4753 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.561155 NA NA 0.412104 0.656393 NA 0.507 NA 2.0294294 1449 10 98287261 98287261 G C intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs3789957 0.63 0.63 0.604 0.601038 0.6471 0.8304 0.5403 0.3411 0.7117 0.66 0.87 0.58 0.35 0.6584 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915951 NA NA 0.665193 0.392322 NA 0.63 NA 2.029307 1449 2 234091158 234091158 T C intronic INPP5D NA NA NA intronic ENSG00000168918 NA NA NA NA NA 2q37.1 NA NA NA NA rs4571051 0.8 0.8 0.807 0.830272 0.6451 0.9683 0.7277 0.9508 0.7883 0.63 0.96 0.73 0.95 0.7051 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097455 NA NA 0.621429 0.903781 NA 0.746 NA 2.028371 1449 3 53814197 53814197 G A intronic CACNA1D NA NA NA intronic ENSG00000157388 NA NA NA NA NA 3p21.1 NA NA NA NA rs1829423 0.6 0.6 0.577 0.550319 0.674 0.4435 0.6095 0.6339 0.3783 0.69 0.42 0.62 0.65 0.6217 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681438 NA NA 0.678256 0.652065 NA 0.601 NA 2.026044 1449 10 13275676 13275676 T C intronic UCMA NA NA NA intronic ENSG00000165623 NA NA NA NA NA 10p13 NA NA NA NA rs3829926 0.58 0.58 0.527 0.535144 0.6561 0.5357 0.7032 0.4183 0.4489 0.65 0.54 0.74 0.42 0.6268 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.802004 NA NA 0.692093 0.467317 NA 0.391 NA 2.025007 1450 1 1854109 1854109 A G intergenic TMEM52,KIAA1751 dist=3369;dist=30643 NA NA intronic ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs2803348 0.57 0.57 0.542 0.598842 0.5368 0.6359 0.6196 0.562 0.6595 0.54 0.6 0.61 0.55 0.5677 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756475 NA NA 0.537558 0.520881 ID=COSM146378;OCCURENCE=1(breast),1(stomach) 0.449 NA 2.0246087 1450 9 35060302 35060302 T C intronic VCP NA NA NA intronic ENSG00000165280 NA NA NA NA NA 9p13.3 NA NA NA NA rs684562 0.43 0.43 0.381 0.408746 0.6839 0.0804 0.7032 0.2088 0.5256 0.69 0.09 0.69 0.23 0.5865 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.658769 NA NA 0.705814 0.281434 NA 0.471 NA 2.023786 1450 15 75664571 75664571 A T intronic SIN3A NA NA NA intronic ENSG00000169375 NA NA NA NA NA 15q24.2 NA NA NA NA rs56395816 0.54 0.54 0.16 0.627995 0.7177 0.6587 0.7666 0.4796 0.6063 0.6 0.55 0.65 0.34 0.7149 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.179178 NA NA 0.543939 0.325858 NA 0.014 NA 2.023461 1450 22 25714218 25714218 A T upstream IGLL3P NA NA NA upstream ENSG00000206066 NA NA NA NA NA 22q11.23 NA NA NA NA rs2072869 0.39 0.39 0.305 0.397364 0.5785 0.4107 0.2853 0.1346 0.6319 0.57 0.37 0.35 0.14 0.4971 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755205 NA NA 0.56814 0.203451 NA 0.254 NA 2.0229266 1450 7 22857589 22857589 T C intronic TOMM7 NA NA NA intronic ENSG00000196683 NA NA NA NA NA 7p15.3 NA NA NA NA rs7782015 0.78 0.78 0.804 0.784545 0.6441 0.9901 0.6138 0.8638 0.7311 0.66 0.99 0.63 0.84 0.6887 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757492 NA NA 0.645465 0.817522 NA 0.848 NA 2.021735 1450 14 22279809 22279809 A C intergenic OR4E2,DAD1 dist=145571;dist=753998 NA NA intronic ENSG00000211783 NA NA NA NA NA 14q11.2 NA NA NA NA rs2856411 0.46 0.46 0.442 0.415535 0.5746 0.3363 0.4308 0.3608 0.3967 0.58 0.36 0.46 0.38 0.5089 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749584 NA NA 0.563661 0.372416 NA 0.449 NA 2.0195057 1450 2 15676686 15676686 G A intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs10208972 0.54 0.54 0.516 0.538339 0.6918 0.2202 0.6254 0.621 0.5348 0.67 0.25 0.63 0.6 0.6076 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345172 NA NA 0.681279 0.636591 NA 0.696 NA 2.019321 1450 11 1098637 1098637 A G intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs12418069 0.79 0.79 0.782 0.813299 0.6461 0.9911 0.7795 0.7602 0.8978 0.65 0.99 0.75 0.79 0.7099 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116667 NA NA 0.625745 0.747218 NA 0.746 NA 2.018255 1450 2 15618339 15618339 G A intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs1125534 0.53 0.53 0.53 0.527556 0.6938 0.2222 0.6254 0.5772 0.5348 0.67 0.25 0.64 0.57 0.6066 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.144238 NA NA 0.683488 0.592189 NA 0.681 NA 2.016112 1450 1 157567751 157567751 A G UTR5 FCRL4 NM_031282:c.-17T>C NA NA UTR5 ENSG00000163518 ENST00000271532:c.-17T>C NA NA NA NA 1q23.1 NA NA NA NA rs1361889 0.8 0.8 0.791 0.796126 0.7823 0.9008 0.8501 0.6694 0.8354 0.77 0.91 0.83 0.72 0.7766 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482665 NA NA 0.758953 0.694054 NA 0.739 NA 2.0154804 1450 11 120097498 120097498 T C intronic OAF NA NA NA intronic ENSG00000184232 NA NA NA NA NA 11q23.3 NA NA NA NA rs873059 0.4 0.4 0.368 0.328674 0.7117 0.006 0.4366 0.2693 0.271 0.72 0.01 0.52 0.27 0.553 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886284 NA NA 0.719884 0.332955 NA 0.435 NA 2.015416 1450 3 182858287 182858287 C T intronic LAMP3 NA NA NA intronic ENSG00000078081 NA NA NA NA NA 3q27.1 NA NA NA NA rs522235 0.53 0.53 0.502 0.515575 0.674 0.4722 0.4827 0.3517 0.6421 0.66 0.5 0.5 0.38 0.621 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385778 NA NA 0.689651 0.422152 ID=COSN167096;OCCURENCE=1(large_intestine) 0.486 NA 2.015349 1450 6 31132649 31132649 A C intronic POU5F1 NA NA NA intronic ENSG00000137310,ENSG00000204531 NA NA NA NA NA 6p21.33 NA NA NA NA rs2394882 0.68 0.68 0.67 0.68151 0.668 0.6419 0.67 0.8033 0.5798 0.66 0.59 0.68 0.81 0.6586 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499847 NA NA 0.658361 0.788079 NA 0.703 NA 2.015039 1451 18 61326597 61326597 A C intronic SERPINB3 NA NA NA intronic ENSG00000057149 NA NA NA NA NA 18q21.33 NA NA NA NA rs8085479 0.99 0.99 0.99 0.993011 1 1 0.9942 0.9773 0.999 1 1 1 0.96 0.9853 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148944 NA NA NA NA NA 0.993 NA 2.0147 1451 18 61326609 61326609 T G intronic SERPINB3 NA NA NA intronic ENSG00000057149 NA NA NA NA NA 18q21.33 NA NA NA NA rs8089201 0.99 0.99 0.99 0.993411 1 0.996 0.9971 0.9811 0.998 1 1 1 0.97 0.9855 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134717 NA NA NA NA NA 0.964 NA 2.0145 1451 18 61326602 61326602 A G intronic SERPINB3 NA NA NA intronic ENSG00000057149 NA NA NA NA NA 18q21.33 NA NA NA NA rs8085482 0.99 0.99 0.99 0.994409 1 1 0.9957 0.9818 0.999 1 1 1 0.98 0.9858 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692615 NA NA NA NA NA 1 NA 2.0142 1451 3 53212574 53212574 C G intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA rs2306571 0.62 0.62 0.583 0.565895 0.6779 0.7341 0.6484 0.3116 0.5624 0.68 0.77 0.68 0.32 0.6601 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600756 NA NA 0.647907 0.36473 NA 0.623 NA 2.014093 1451 11 62489267 62489267 C T ncRNA_intronic HNRNPUL2-BSCL2 NA NA NA intronic ENSG00000214753,ENSG00000234857 NA NA NA NA NA 11q12.3 NA NA NA NA rs496032 0.74 0.74 0.737 0.747404 0.7873 0.7619 0.8156 0.6483 0.7771 0.78 0.77 0.78 0.63 0.7724 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.675648 NA NA 0.759664 0.675783 NA 0.674 NA 2.0139693 1451 2 15519992 15519992 G T intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs2058866 0.52 0.52 0.508 0.517372 0.6938 0.2232 0.6254 0.5378 0.5348 0.67 0.26 0.63 0.52 0.6086 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214687 NA NA 0.684272 0.561535 NA 0.674 NA 2.013328 1451 13 52663491 52663491 A G intronic NEK5 NA NA NA intronic ENSG00000197168 NA NA NA NA NA 13q14.3 NA NA NA NA rs9535861 0.57 0.57 0.533 0.506789 0.7028 0.6121 0.634 0.2526 0.4499 0.69 0.59 0.66 0.28 0.6086 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395772 NA NA 0.675547 0.314714 NA 0.464 NA 2.013053 1451 6 47522357 47522357 G A intronic CD2AP NA NA NA intronic ENSG00000198087 NA NA NA NA NA 6p12.3 NA NA NA NA rs9473132 0.5 0.5 0.494 0.521965 0.6859 0.2808 0.4496 0.4955 0.6892 0.68 0.26 0.49 0.49 0.6156 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344673 NA NA 0.68593 0.527236 NA 0.616 NA 2.01257 1451 22 38251686 38251686 T C intronic EIF3L NA NA NA intronic ENSG00000100129 NA NA NA NA NA 22q13.1 NA NA NA NA rs2157472 0.78 0.78 0.798 0.791134 0.6382 0.879 0.6686 0.9546 0.7239 0.64 0.89 0.65 0.95 0.6989 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46181 NA NA 0.650349 0.912619 NA 0.754 NA 2.012551 1451 11 24784862 24784862 A T intronic LUZP2 NA NA NA intronic ENSG00000187398 NA NA NA NA NA 11p14.3 NA NA NA NA rs2716532 0.6 0.6 0.596 0.594848 0.671 0.4643 0.5476 0.6566 0.6012 0.67 0.49 0.53 0.67 0.6418 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198694 NA NA 0.674783 0.641947 NA 0.522 NA 2.012417 1451 13 41525586 41525586 A G intronic ELF1 NA NA NA intronic ENSG00000120690 NA NA NA NA NA 13q14.11 NA NA NA NA rs3736953 0.44 0.44 0.396 0.417931 0.7097 0.1538 0.6643 0.1679 0.5532 0.73 0.16 0.63 0.18 0.5996 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492186 NA NA 0.678372 0.235588 NA 0.297 NA 2.012328 1451 1 159842691 159842691 C G intronic CCDC19 NA NA NA intronic ENSG00000213085,ENSG00000256029 NA NA NA NA NA 1q23.2 NA NA NA NA rs4460634 0.63 0.63 0.606 0.609026 0.664 0.7887 0.7075 0.3321 0.6718 0.68 0.75 0.68 0.37 0.66 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503295 NA NA 0.663759 0.356559 NA 0.471 NA 2.012241 1451 11 117163765 117163765 C A intronic BACE1 NA NA NA intronic ENSG00000186318 NA NA NA NA NA 11q23.3 NA NA NA NA rs490460 0.8 0.8 0.801 0.853035 0.6272 0.9315 0.7723 0.9614 0.9151 0.63 0.95 0.73 0.95 0.7376 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552839 NA NA 0.624302 0.90527 NA 0.826 NA 2.010898 1451 11 62365665 62365665 G A intronic MTA2 NA NA NA intronic ENSG00000149480 NA NA NA NA NA 11q12.3 NA NA NA NA rs2849031 0.72 0.72 0.691 0.737021 0.673 0.9474 0.7637 0.5855 0.772 0.68 0.94 0.71 0.52 0.6939 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.033296 NA NA 0.62278 0.595705 NA 0.623 NA 2.01032 1451 11 62459994 62459994 A G ncRNA_intronic HNRNPUL2-BSCL2 NA NA NA intronic ENSG00000168000,ENSG00000234857 NA NA NA NA NA 11q12.3 NA NA NA NA rs2850597 0.75 0.75 0.706 0.749401 0.7893 0.7589 0.8141 0.6573 0.7771 0.78 0.77 0.78 0.63 0.7756 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325468 NA NA 0.758548 0.675749 NA 0.674 NA 2.0098853 1451 1 22168216 22168216 C T intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs7556412 0.65 0.65 0.657 0.623802 0.6769 0.8075 0.5836 0.4607 0.6288 0.67 0.81 0.57 0.47 0.6516 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.955413 NA NA 0.66186 0.500227 NA 0.551 NA 2.00964 1451 3 78666765 78666765 T C intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs9839790 0.59 0.59 0.595 0.575479 0.6859 0.5784 0.6383 0.4486 0.5859 0.68 0.6 0.65 0.4 0.6225 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806929 NA NA 0.682421 0.485626 NA 0.609 NA 2.009179 1451 6 36294915 36294915 T A intronic C6orf222 NA NA NA intronic ENSG00000189325 NA NA NA NA NA 6p21.31 NA NA NA NA rs6923009 0.75 0.75 0.746 0.775559 0.6481 0.7569 0.7248 0.9864 0.6769 0.63 0.7 0.74 0.98 0.6972 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358723 NA NA 0.648488 0.932819 NA 0.826 NA 2.006212 1451 6 47577064 47577064 G A intronic CD2AP NA NA NA intronic ENSG00000198087 NA NA NA NA NA 6p12.3 NA NA NA NA rs9395287 0.5 0.5 0.494 0.522564 0.6889 0.2808 0.4496 0.4955 0.6892 0.68 0.26 0.49 0.49 0.6173 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285585 NA NA 0.687791 0.52769 NA 0.623 NA 2.006009 1452 12 52661209 52661209 T C intergenic KRT7,KRT81 dist=18500;dist=18488 NA NA intronic ENSG00000170442 NA NA NA NA NA 12q13.13 NA NA NA NA rs1870223 0.8 0.8 0.815 0.832468 0.841 0.6974 0.732 0.9894 0.8221 0.84 0.68 0.69 0.98 0.8212 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.567157 NA NA NA NA NA 0.957 NA 2.0044667 1452 2 233712049 233712049 G A intronic GIGYF2 NA NA NA intronic ENSG00000204120 NA NA NA NA NA 2q37.1 NA NA NA NA rs2305137 0.68 0.68 0.691 0.605232 0.7127 0.6458 0.6888 0.6301 0.3599 0.72 0.68 0.7 0.61 0.6351 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119506 NA NA 0.648256 0.626872 NA 0.659 NA 2.003944 1452 13 75814526 75814526 A G upstream CTAGE11P NA NA NA upstream ENSG00000214249 NA NA NA NA NA 13q22.2 NA NA NA NA rs9573500 0.68 0.68 0.608 0.758187 0.8439 0.879 0.817 0.4569 0.911 0.78 0.79 0.73 0.35 0.819 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273141 NA NA NA NA NA 0.732 NA 2.0037666 1452 4 87024409 87024409 T C intronic MAPK10 NA NA NA intronic ENSG00000109339 NA NA NA NA NA 4q21.3 NA NA NA NA rs28529458 0.62 0.62 0.584 0.59345 0.6839 0.748 0.6571 0.2466 0.7648 0.7 0.76 0.67 0.31 0.6581 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533545 NA NA 0.654535 0.312755 NA 0.565 NA 2.003465 1452 12 130847389 130847389 A G intronic PIWIL1 NA NA NA intronic ENSG00000125207 NA NA NA NA NA 12q24.33 NA NA NA NA rs2242363 0.59 0.59 0.606 0.643371 0.662 0.378 0.4337 0.8684 0.7423 0.64 0.4 0.46 0.83 0.652 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601013 NA NA 0.682791 0.843849 NA 0.681 NA 2.003209 1452 19 13039284 13039284 A G intronic FARSA NA NA NA intronic ENSG00000179115 NA NA NA NA NA 19p13.2 NA NA NA NA rs2293683 0.71 0.71 0.694 0.68131 0.6879 0.8125 0.5403 0.6142 0.7301 0.7 0.82 0.56 0.68 0.6577 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550308 NA NA 0.652791 0.603268 NA 0.681 NA 2.001609 1452 6 37447075 37447075 G A intronic FTSJD2 NA NA NA intronic ENSG00000137200 NA NA NA NA NA 6p21.2 NA NA NA NA rs2797790 0.67 0.67 0.708 0.660743 0.6759 0.4524 0.67 0.8699 0.5706 0.66 0.47 0.69 0.89 0.6585 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.84339 NA NA 0.66407 0.827281 NA 0.681 NA 2.00153 1452 9 130942972 130942972 T C intronic CIZ1 NA NA NA intronic ENSG00000148337 NA NA NA NA NA 9q34.11 NA NA NA NA rs45585631 0.71 0.71 0.707 0.692692 0.66 0.9444 0.768 0.4259 0.774 0.68 0.96 0.76 0.43 0.6878 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300583 NA NA 0.650814 0.471176 NA 0.754 NA 2.001386 1452 1 63001120 63001120 A C intronic DOCK7 NA NA NA intronic ENSG00000116641 NA NA NA NA NA 1p31.3 NA NA NA NA rs1168018 0.63 0.63 0.602 0.57508 0.6958 0.7679 0.6124 0.3487 0.5317 0.69 0.78 0.66 0.36 0.6352 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40986 NA NA 0.67 0.376305 NA 0.601 NA 1.999 1452 9 138516531 138516531 G C intronic GLT6D1 NA NA NA intronic ENSG00000204007 NA NA NA NA NA 9q34.3 NA NA NA NA rs7466817 0.72 0.72 0.732 0.724042 0.6382 0.7946 0.7579 0.6876 0.7648 0.63 0.81 0.74 0.71 0.6949 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.646347 NA NA 0.667917 0.684699 NA 0.725 NA 1.998983 1452 19 13029188 13029188 G A intronic SYCE2 NA NA NA intronic ENSG00000161860 NA NA NA NA NA 19p13.2 NA NA NA NA rs2965214 0.7 0.7 0.689 0.68131 0.6869 0.8482 0.5504 0.5825 0.7301 0.7 0.85 0.57 0.63 0.6602 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297607 NA NA 0.654019 0.593192 NA 0.688 NA 1.998881 1452 6 33639760 33639760 G C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs3736893 0.73 0.73 0.732 0.76278 0.6511 0.8185 0.7277 0.7421 0.8732 0.65 0.82 0.72 0.75 0.7058 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176996 NA NA 0.644419 0.720608 NA 0.797 NA 1.998681 1452 6 66063513 66063513 G A intronic EYS NA NA NA intronic ENSG00000188107 NA NA NA NA NA 6q12 NA NA NA NA rs1936439 0.64 0.64 0.639 0.651158 0.6481 0.6349 0.6095 0.6543 0.6963 0.65 0.63 0.63 0.64 0.6746 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392144 NA NA 0.678837 0.686564 NA 0.674 NA 1.998463 1452 19 3452683 3452683 A G intronic NFIC NA NA NA intronic ENSG00000141905 NA NA NA NA NA 19p13.3 NA NA NA NA rs8105687 0.6 0.6 0.594 0.583666 0.7008 0.3681 0.5648 0.7088 0.5297 0.69 0.38 0.6 0.73 0.632 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917524 NA NA 0.669923 0.704721 NA 0.638 NA 1.997277 1452 18 72250762 72250762 T C intronic CNDP1 NA NA NA intronic ENSG00000150656 NA NA NA NA NA 18q22.3 NA NA NA NA rs11659237 0.61 0.61 0.559 0.619209 0.674 0.6726 0.7205 0.4024 0.729 0.67 0.67 0.7 0.39 0.661 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292938 NA NA 0.66814 0.439628 NA 0.594 NA 1.99686 1452 6 89913108 89913108 C G intronic GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs4590241 0.73 0.73 0.693 0.742212 0.6521 0.9286 0.7925 0.674 0.6994 0.64 0.92 0.75 0.65 0.6976 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129564 NA NA 0.654186 0.685656 NA 0.732 NA 1.996114 1452 6 89913112 89913112 G A intronic GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs4457139 0.73 0.73 0.688 0.742212 0.6521 0.9286 0.7925 0.674 0.6994 0.64 0.92 0.75 0.65 0.6974 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239113 NA NA 0.654535 0.685656 NA 0.732 NA 1.995965 1452 3 100354683 100354683 G A intronic GPR128 NA NA NA intronic ENSG00000144820 NA NA NA NA NA 3q12.2 NA NA NA NA rs1520652 0.72 0.72 0.666 0.745008 0.6372 0.9841 0.7882 0.5272 0.8732 0.63 0.99 0.79 0.49 0.7159 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.232885 NA NA 0.651395 0.527248 NA 0.377 NA 1.995505 1452 2 220428381 220428381 A T intronic OBSL1 NA NA NA intronic ENSG00000124006 NA NA NA NA NA 2q35 NA NA NA NA rs2303543 0.57 0.57 0.538 0.556709 0.6809 0.6627 0.5259 0.2534 0.7515 0.69 0.65 0.56 0.29 0.6462 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.724597 1.724597 NA 0.677809 0.337794 NA 0.623 NA 1.995091 1453 1 204512100 204512100 T C intronic MDM4 NA NA NA intronic ENSG00000198625 NA NA NA NA NA 1q32.1 NA NA NA NA rs4252717 0.57 0.57 0.492 0.535144 0.6879 0.7024 0.6095 0.2073 0.5961 0.69 0.69 0.59 0.22 0.642 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01918 NA NA 0.675814 0.279392 NA 0.536 NA 1.994286 1453 20 25027526 25027526 G A intronic ACSS1 NA NA NA intronic ENSG00000154930 NA NA NA NA NA 20p11.21 NA NA NA NA rs6083730 0.73 0.73 0.728 0.717252 0.6849 0.7649 0.598 0.8585 0.5951 0.67 0.78 0.64 0.84 0.6673 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.28738 NA NA 0.656454 0.825342 NA 0.659 NA 1.991346 1453 10 15713667 15713667 C G intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs7100510 0.61 0.61 0.636 0.63738 0.663 0.7431 0.5548 0.4304 0.8405 0.66 0.73 0.57 0.43 0.6637 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336199 NA NA 0.683605 0.470268 NA 0.587 NA 1.989695 1453 7 120428607 120428607 G A UTR3 TSPAN12 NM_012338:c.*39C>T NA NA UTR3 ENSG00000106025 ENST00000222747:c.*39C>T,ENST00000450414:c.*807C>T,ENST00000415871:c.*39C>T NA NA NA NA 7q31.31 NA NA NA NA rs41622 0.83 0.83 0.81 0.846246 0.7654 0.9593 0.8516 0.7625 0.9223 0.75 0.97 0.83 0.76 0.8048 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.191207 NA NA 0.77407 0.767257 NA 0.826 NA 1.9890634 1453 2 183088584 183088584 G A intronic PDE1A NA NA NA intronic ENSG00000115252 NA NA NA NA NA 2q32.1 NA NA NA NA rs3754929 0.69 0.69 0.689 0.726438 0.6461 0.7589 0.6931 0.739 0.7822 0.64 0.74 0.68 0.72 0.6868 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525983 NA NA 0.678571 0.729006 NA 0.638 NA 1.988529 1453 8 73926236 73926236 T G intronic TERF1 NA NA NA intronic ENSG00000147601 NA NA NA NA NA 8q21.11 NA NA NA NA rs2975841 0.56 0.56 0.56 0.575479 0.675 0.3065 0.4654 0.7496 0.593 0.67 0.27 0.49 0.76 0.6369 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868903 NA NA 0.699721 0.745 ID=COSN168350;OCCURENCE=1(large_intestine) 0.464 NA 1.988379 1453 16 105444 105444 C T intronic SNRNP25 NA NA NA intronic ENSG00000161981 NA NA NA NA NA 16p13.3 NA NA NA NA rs2541594 0.57 0.57 0.512 0.55012 0.675 0.6171 0.5821 0.357 0.591 0.68 0.58 0.62 0.36 0.651 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568168 NA NA 0.685698 0.426918 NA 0.572 NA 1.988302 1453 2 233712296 233712296 G A intronic GIGYF2 NA NA NA intronic ENSG00000204120 NA NA NA NA NA 2q37.1 NA NA NA NA rs6437074 0.71 0.71 0.722 0.639976 0.7137 0.6458 0.6945 0.7572 0.3609 0.72 0.68 0.71 0.74 0.6449 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806369 NA NA 0.65407 0.740486 NA 0.638 NA 1.98733 1453 14 33242863 33242863 T C intronic AKAP6 NA NA NA intronic ENSG00000151320 NA NA NA NA NA 14q12 NA NA NA NA rs2273163 0.54 0.54 0.505 0.525359 0.6879 0.4385 0.7334 0.2958 0.6104 0.7 0.43 0.75 0.29 0.6418 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785782 NA NA 0.683256 0.371312 ID=COSN164658;OCCURENCE=1(NS) 0.507 NA 1.987044 1454 11 43940566 43940566 T C ncRNA_intronic LOC100507300 NA NA NA ncRNA_intronic ENSG00000244926 NA NA NA NA NA 11p11.2 NA NA NA NA rs7926534 0.86 0.86 0.839 0.843051 0.8966 0.9752 0.866 0.6165 0.9417 0.9 0.98 0.88 0.63 0.8887 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.19077 NA NA 0.896744 0.673627 NA 0.819 NA 1.9846226 1454 7 137801444 137801444 C T UTR3 AKR1D1 NM_001190907:c.*61C>T,NM_001190906:c.*36C>T,NM_005989:c.*36C>T NA NA UTR3 ENSG00000122787 ENST00000432161:c.*61C>T,ENST00000411726:c.*36C>T,ENST00000242375:c.*36C>T NA NA NA NA 7q33 NA NA NA NA rs1872930 0.77 0.77 0.774 0.777955 0.7813 0.7351 0.6614 0.8759 0.7689 0.78 0.71 0.68 0.89 0.7781 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063945 NA NA 0.790349 0.870177 NA 0.855 NA 1.9835844 1454 15 34137292 34137292 C G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs12899715 0.52 0.52 0.484 0.488818 0.7018 0.4266 0.6916 0.2201 0.5532 0.73 0.41 0.62 0.23 0.6324 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.766154 NA NA 0.682651 0.30873 NA 0.493 NA 1.983149 1454 12 72030252 72030252 T C intronic ZFC3H1 NA NA NA intronic ENSG00000133858 NA NA NA NA NA 12q21.1 NA NA NA NA rs1149006 0.45 0.45 0.398 0.412939 0.7137 0.1806 0.6556 0.1853 0.4785 0.71 0.18 0.66 0.22 0.5849 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.006509 2.006509 NA 0.719072 0.239601 NA 0.471 NA 1.982328 1454 14 22952088 22952088 G A intergenic OR4E2,DAD1 dist=817850;dist=81719 NA NA upstream;downstream ENSG00000251002;ENSG00000211836,ENSG00000211837 NA NA NA NA NA 14q11.2 NA Name=Pol2-4H8 NA NA rs227861 0.78 0.78 0.773 0.75 0.8549 0.8353 0.6931 0.6097 0.7843 0.87 0.85 0.72 0.63 0.8077 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195477 NA NA 0.855537 0.646242 NA 0.616 NA 1.981863 1454 2 4135981 4135981 C T intergenic LOC100505964,LOC727982 dist=114359;dist=539827 NA NA intergenic ENSG00000264071,ENSG00000229550 dist=58432;dist=48253 NA NA NA NA 2p25.3 NA NA NA NA rs1024026 0.4 0.4 0.385 0.357827 0.4622 0.1925 0.4726 0.416 0.2607 0.47 0.19 0.5 0.46 0.4202 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562696 NA NA 0.469111 0.445776 NA 0.297 NA 1.9818224 1454 5 160044855 160044855 G A intronic ATP10B NA NA NA ncRNA_intronic ENSG00000253687 NA NA NA NA NA 5q34 NA NA NA NA rs1363199 0.76 0.76 0.756 0.739816 0.7873 0.8214 0.6729 0.652 0.773 0.79 0.81 0.73 0.66 0.7664 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.865225 NA NA 0.798464 0.6888 NA 0.768 NA 1.9811693 1454 5 6618186 6618186 T C intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs10475338 0.68 0.68 0.679 0.669329 0.673 0.6746 0.6138 0.7156 0.637 0.66 0.68 0.65 0.73 0.6611 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655598 NA NA 0.684884 0.710849 NA 0.681 NA 1.981016 1454 1 16358932 16358932 T C intronic CLCNKA NA NA NA intronic ENSG00000186510 NA NA NA NA NA 1p36.13 NA NA NA NA rs10803407 0.76 0.76 0.77 0.749002 0.669 0.9742 0.5951 0.7693 0.681 0.67 0.98 0.61 0.77 0.6882 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.462768 NA NA 0.663605 0.756922 NA 0.71 NA 1.979195 1454 14 51355517 51355517 C A intronic ABHD12B NA NA NA intronic ENSG00000100504,ENSG00000131969 NA NA NA NA NA 14q22.1 NA NA NA NA rs10144606 0.59 0.59 0.609 0.626797 0.667 0.4365 0.5879 0.6006 0.8446 0.65 0.47 0.57 0.63 0.6619 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072201 NA NA 0.692209 0.6069 NA 0.63 NA 1.978891 1454 5 6620459 6620459 A G intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs2288446 0.69 0.69 0.68 0.675519 0.673 0.6786 0.6182 0.733 0.638 0.66 0.68 0.65 0.75 0.6629 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147846 NA NA 0.685233 0.733999 NA 0.681 NA 1.978867 1454 6 116264354 116264354 C A intronic FRK NA NA NA intronic ENSG00000111816 NA NA NA NA NA 6q22.1 NA NA NA NA rs550480 0.75 0.75 0.727 0.755591 0.667 0.9812 0.7579 0.6135 0.8047 0.69 0.98 0.72 0.61 0.7173 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62786 NA NA 0.638087 0.619545 NA 0.681 NA 1.977613 1454 5 6602544 6602544 T C intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA NA NA NA rs2303711 0.69 0.69 0.697 0.676917 0.6759 0.6746 0.621 0.7398 0.635 0.66 0.68 0.65 0.76 0.6627 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292933 NA NA 0.684767 0.738538 NA 0.674 NA 1.976633 1454 6 75830974 75830974 G C intronic COL12A1 NA NA NA intronic ENSG00000111799 NA NA NA NA NA 6q13 NA NA NA NA rs499018 0.59 0.59 0.602 0.612819 0.6769 0.4256 0.6614 0.587 0.7403 0.67 0.43 0.64 0.61 0.6551 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801074 NA NA 0.691373 0.589362 NA 0.609 NA 1.976627 1454 22 18222263 18222263 A G intronic BID NA NA NA intronic ENSG00000015475 NA NA NA NA NA 22q11.21 NA NA NA NA rs181390 0.74 0.74 0.696 0.741813 0.6402 0.9315 0.755 0.68 0.7249 0.64 0.94 0.75 0.68 0.7081 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734785 NA NA 0.676279 0.703359 NA 0.609 NA 1.975421 1455 1 119466275 119466275 A G intronic TBX15 NA NA NA intronic ENSG00000092607 NA NA NA NA NA 1p12 NA NA NA NA rs4659129 0.66 0.66 0.676 0.641573 0.6839 0.7817 0.6196 0.5696 0.5665 0.68 0.75 0.62 0.56 0.6598 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.799405 NA NA 0.681744 0.591012 NA 0.761 NA 1.974556 1455 22 51010788 51010788 T A ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA NA NA rs131761 0.88 0.88 0.889 0.906949 0.7704 0.9871 0.8401 0.9894 0.9008 0.78 0.98 0.81 0.98 0.8295 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74144 NA NA 0.759884 0.96049 NA 0.942 NA 1.9735493 1455 19 10745764 10745764 T C intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA NA NA NA rs2163832 0.72 0.72 0.736 0.770767 0.6262 0.7044 0.7896 0.944 0.7403 0.62 0.65 0.75 0.93 0.7263 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.484134 NA NA 0.675233 0.900136 NA 0.645 NA 1.972267 1455 1 41298652 41298652 T C intronic KCNQ4 NA NA NA intronic ENSG00000117013 NA NA NA NA NA 1p34.2 NA NA NA NA rs913378 0.71 0.71 0.666 0.738618 0.6541 0.8403 0.7738 0.6815 0.773 0.66 0.84 0.73 0.65 0.7139 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192374 NA NA 0.660581 0.687245 NA 0.754 NA 1.971419 1455 12 15731744 15731744 C T intronic PTPRO NA NA NA intronic ENSG00000151490 NA NA NA NA NA 12p12.3 NA NA NA NA rs1024843 0.58 0.58 0.558 0.576877 0.665 0.7004 0.6974 0.1936 0.7914 0.68 0.75 0.65 0.2 0.6713 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325158 NA NA 0.693488 0.274977 NA 0.565 NA 1.970212 1455 4 143130219 143130219 T A intronic INPP4B NA NA NA intronic ENSG00000109452 NA NA NA NA NA 4q31.21 NA NA NA NA rs1994217 0.57 0.57 0.526 0.50639 0.7058 0.7083 0.6888 0.0537 0.5757 0.73 0.71 0.68 0.07 0.6373 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434504 NA NA 0.687209 0.172719 NA 0.399 NA 1.969691 1455 1 159828746 159828746 G A intronic VSIG8 NA NA NA intronic ENSG00000243284,ENSG00000256029 NA NA NA NA NA 1q23.2 NA NA NA NA rs2501337 0.65 0.65 0.645 0.638978 0.6799 0.745 0.7493 0.4713 0.636 0.69 0.7 0.7 0.51 0.6731 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560021 NA NA 0.67814 0.475261 NA 0.522 NA 1.96886 1455 16 58036347 58036347 G A intronic USB1 NA NA NA intronic ENSG00000103005 NA NA NA NA NA 16q21 NA NA NA NA rs3743560 0.56 0.56 0.567 0.56849 0.6978 0.5 0.4669 0.4622 0.7219 0.7 0.49 0.54 0.46 0.6398 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529421 NA NA 0.696067 0.476548 NA 0.659 NA 1.966333 1455 3 125786760 125786760 G A intronic SLC41A3 NA NA NA intronic ENSG00000114544 NA NA NA NA NA 3q21.2 NA NA NA NA rs4308226 0.65 0.65 0.628 0.648163 0.6571 0.6627 0.6816 0.5734 0.7014 0.66 0.65 0.68 0.59 0.677 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694378 NA NA 0.700581 0.579437 NA 0.688 NA 1.965319 1455 1 152193990 152193990 A G intronic HRNR NA NA NA ncRNA_intronic ENSG00000237975 NA NA NA NA NA 1q21.3 NA NA NA NA rs11204938 0.59 0.59 0.594 0.531949 0.829 0.3274 0.5519 0.469 0.5082 0.82 0.36 0.63 0.47 0.7094 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284622 NA NA 0.829919 0.523842 NA 0.688 NA 1.9650143 1456 8 121267617 121267617 C T intronic COL14A1 NA NA NA intronic ENSG00000187955 NA NA NA NA NA 8q24.12 NA NA NA NA rs993823 0.77 0.77 0.797 0.770168 0.6581 0.8452 0.7277 0.8933 0.6718 0.65 0.85 0.75 0.88 0.6991 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.252252 NA NA 0.677907 0.857921 NA 0.797 NA 1.964893 1456 2 241452198 241452198 T C intronic ANKMY1 NA NA NA intronic ENSG00000144504 NA NA NA NA NA 2q37.3 NA NA NA NA rs12695025 0.67 0.67 0.675 0.677316 0.6799 0.7877 0.6239 0.5499 0.771 0.7 0.8 0.62 0.53 0.6945 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12906 NA NA 0.661977 0.578075 NA 0.688 NA 1.963623 1456 8 92307978 92307978 C T intronic SLC26A7 NA NA NA intronic ENSG00000147606 NA NA NA NA NA 8q21.3 NA NA NA NA rs10107822 0.6 0.6 0.585 0.613419 0.6998 0.6587 0.5101 0.4955 0.7106 0.71 0.62 0.52 0.49 0.6444 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031775 NA NA 0.692326 0.50522 NA 0.659 NA 1.963474 1456 8 104934028 104934028 G A intronic RIMS2 NA NA NA intronic ENSG00000176406 NA NA NA NA NA 8q22.3 NA NA NA NA rs6468897 0.58 0.58 0.616 0.571685 0.7097 0.2421 0.4914 0.7511 0.5838 0.73 0.25 0.54 0.76 0.6366 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579102 NA 0 0.690798 0.71797 NA 0.587 NA 1.962902 1456 2 241452212 241452212 T C intronic ANKMY1 NA NA NA intronic ENSG00000144504 NA NA NA NA NA 2q37.3 NA NA NA NA rs12695026 0.68 0.68 0.658 0.677117 0.6799 0.7877 0.6225 0.5499 0.771 0.7 0.8 0.62 0.54 0.6952 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056578 NA NA 0.662442 0.577621 NA 0.688 NA 1.962458 1456 7 140044979 140044979 C T intronic SLC37A3 NA NA NA intronic ENSG00000157800 NA NA NA NA NA 7q34 NA NA NA NA rs6974016 0.69 0.69 0.719 0.66893 0.6938 0.4871 0.6657 0.9614 0.4376 0.69 0.49 0.64 0.96 0.6609 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363979 NA NA 0.687093 0.907853 ID=COSN168207;OCCURENCE=1(large_intestine) 0.746 NA 1.958207 1456 4 48994138 48994138 G T intronic CWH43 NA NA NA intronic ENSG00000109182 NA NA NA NA NA 4p11 NA NA NA NA rs28678278 0.5 0.5 0.441 0.444289 0.7207 0.2867 0.745 0.1755 0.4724 0.73 0.3 0.77 0.19 0.6267 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.051966 2.051966 NA 0.694884 0.254426 NA 0.428 NA 1.957716 1456 9 123632829 123632829 G C intronic PHF19 NA NA NA intronic ENSG00000119403 NA NA NA NA NA 9q33.2 NA NA NA NA rs4836833 0.61 0.61 0.608 0.636981 0.6819 0.498 0.7824 0.5303 0.7751 0.69 0.48 0.76 0.55 0.683 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341761 NA NA 0.677558 0.578529 NA 0.638 NA 1.957542 1456 21 42860307 42860307 C T intronic TMPRSS2 NA NA NA intronic ENSG00000184012 NA NA NA NA NA 21q22.3 NA NA NA NA rs422471 0.54 0.54 0.548 0.554712 0.6978 0.3006 0.5605 0.5681 0.6472 0.68 0.3 0.56 0.57 0.624 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333796 NA NA 0.721395 0.561734 NA 0.609 NA 1.956805 1457 20 3147024 3147024 G A intronic LZTS3 NA NA NA intronic ENSG00000088899 NA NA NA NA NA 20p13 NA NA NA NA rs7260750 0.81 0.81 0.814 0.826078 0.6869 0.9663 0.7003 0.9342 0.7679 0.66 0.96 0.71 0.94 0.704 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464 NA NA 0.654268 0.89175 NA 0.841 NA 1.954832 1457 17 37829129 37829129 A G intronic PGAP3 NA NA NA intronic ENSG00000161395 NA NA NA NA NA 17q12 NA NA NA NA rs2247862 0.58 0.58 0.588 0.578874 0.6889 0.4058 0.5562 0.5492 0.7004 0.7 0.48 0.58 0.53 0.6701 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88725 NA NA 0.686744 0.564231 NA 0.594 NA 1.954256 1457 21 47722391 47722391 A G intronic C21orf58 NA NA NA intronic ENSG00000160298 NA NA NA NA NA 21q22.3 NA NA NA NA rs1556337 0.55 0.55 0.506 0.53155 0.6789 0.4454 0.6729 0.3525 0.6104 0.67 0.41 0.73 0.38 0.6689 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947923 NA NA 0.698651 0.422116 NA 0.297 NA 1.953549 1457 1 160147502 160147502 T G intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs731852 0.78 0.78 0.749 0.786542 0.673 0.881 0.7867 0.8374 0.7372 0.66 0.89 0.77 0.84 0.7188 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544251 NA NA 0.654884 0.813663 NA 0.812 NA 1.953316 1457 3 151085578 151085578 C A intronic MED12L,P2RY12 NA NA NA intronic ENSG00000144893,ENSG00000169313 NA NA NA NA NA 3q25.1 NA NA NA NA rs3732764 0.77 0.77 0.774 0.808706 0.6402 0.8403 0.7767 0.9039 0.8436 0.64 0.82 0.76 0.92 0.7359 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.839391 NA NA 0.670698 0.878121 NA 0.783 NA 1.953202 1457 13 77725106 77725106 C A intronic MYCBP2 NA NA NA intronic ENSG00000005810 NA NA NA NA NA 13q22.3 NA NA NA NA rs9574006 0.49 0.49 0.44 0.445487 0.7038 0.3482 0.6643 0.1853 0.4765 0.7 0.35 0.69 0.2 0.621 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335966 1.335966 NA 0.722726 0.266682 NA 0.442 NA 1.952474 1457 3 179109735 179109735 A G intronic MFN1 NA NA NA intronic ENSG00000171109 NA NA NA NA NA 3q26.33 NA NA NA NA rs2287209 0.71 0.71 0.709 0.735224 0.6889 0.6567 0.7637 0.8215 0.727 0.67 0.66 0.77 0.79 0.7004 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050818 NA NA 0.66015 0.803002 NA 0.616 NA 1.95055 1457 21 42860485 42860485 G C intronic TMPRSS2 NA NA NA intronic ENSG00000184012 NA NA NA NA NA 21q22.3 NA NA NA NA rs386416 0.54 0.54 0.53 0.555112 0.6998 0.3016 0.5605 0.5681 0.6462 0.69 0.3 0.56 0.57 0.6287 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876442 NA NA 0.721047 0.561308 NA 0.609 NA 1.950453 1457 5 160049355 160049355 C T intronic ATP10B NA NA NA ncRNA_intronic ENSG00000253687 NA NA NA NA NA 5q34 NA NA NA NA rs2032804 0.79 0.79 0.807 0.779153 0.7893 0.8244 0.6816 0.7874 0.7802 0.8 0.81 0.73 0.8 0.7934 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991021 NA NA 0.802008 0.801036 NA 0.826 NA 1.9486253 1457 18 28711519 28711519 C T intronic DSC1 NA NA NA ncRNA_exonic ENSG00000263698 NA NA NA NA NA 18q12.1 NA NA NA NA rs1789072 0.61 0.61 0.583 0.591653 0.8141 0.5129 0.6744 0.2965 0.7843 0.83 0.51 0.7 0.32 0.7466 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655625 NA NA 0.824419 0.390831 NA 0.457 NA 1.9482143 1457 10 124333308 124333308 G A intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs2277235 0.63 0.63 0.654 0.636581 0.6769 0.7579 0.7752 0.5023 0.5532 0.64 0.73 0.74 0.43 0.6867 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000036 NA NA 0.688553 0.543594 NA 0.696 NA 1.947847 1457 14 69376658 69376658 A C intronic ACTN1 NA NA NA intronic ENSG00000072110 NA NA NA NA NA 14q24.1 NA NA NA NA rs743128 0.84 0.84 0.832 0.878395 0.6302 0.996 0.7997 0.9856 0.9233 0.66 1 0.76 0.98 0.7694 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081821 NA NA 0.652558 0.933273 NA 0.79 NA 1.947842 1457 1 237732395 237732395 G A intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs2805396 0.5 0.5 0.463 0.492812 0.6978 0.2619 0.7176 0.2443 0.6963 0.7 0.27 0.71 0.29 0.6443 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03389 NA NA 0.710501 0.35379 NA 0.529 NA 1.947399 1457 1 22336371 22336371 C A intronic CELA3A NA NA NA intronic ENSG00000142789 NA NA NA NA NA 1p36.12 NA NA NA NA rs3806297 0.52 0.52 0.554 0.508786 0.7247 0.2599 0.4395 0.4773 0.635 0.72 0.28 0.48 0.5 0.6257 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629706 NA NA 0.70407 0.489777 NA 0.362 NA 1.94553 1457 16 1818152 1818152 C T intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2076430 0.69 0.69 0.146 0.765575 0.7903 0.6488 0.8732 0.8457 0.6759 0.68 0.59 0.8 0.75 0.7884 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.561147 NA NA 0.475889 0.491185 NA NA NA 1.945411 1458 10 124335866 124335866 C T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs1985025 0.67 0.67 0.648 0.636581 0.6769 0.7579 0.7752 0.5023 0.5532 0.68 0.76 0.76 0.47 0.6896 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047801 NA NA 0.689526 0.546397 NA 0.696 NA 1.943974 1458 11 111623088 111623088 T A intronic PPP2R1B NA NA NA intronic ENSG00000137713 NA NA NA NA NA 11q23.1 NA NA NA NA rs4936675 0.75 0.75 0.759 0.753195 0.674 0.7837 0.7104 0.9183 0.6104 0.67 0.77 0.69 0.89 0.7089 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273786 NA NA 0.673726 0.885279 NA 0.812 NA 1.943374 1458 1 111778824 111778824 T C intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs2251608 0.65 0.65 0.604 0.646965 0.674 0.6756 0.6628 0.5287 0.7382 0.68 0.66 0.68 0.55 0.6899 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509346 NA NA 0.694716 0.561081 NA 0.601 NA 1.941384 1458 7 56122058 56122058 A T intronic CCT6A NA NA NA intronic ENSG00000146731 NA NA NA NA NA 7p11.2 NA NA NA NA rs6593297 0.62 0.62 0.634 0.642372 0.6789 0.7103 0.6614 0.5968 0.5828 0.65 0.67 0.62 0.52 0.6837 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342133 NA NA 0.696047 0.598048 NA 0.696 NA 1.941353 1458 19 49424381 49424381 C A intronic NUCB1 NA NA NA intronic ENSG00000104805 NA NA NA NA NA 19q13.33 NA NA NA NA rs12979328 0.46 0.46 0.405 0.449281 0.7048 0.3839 0.5764 0.0386 0.7188 0.72 0.37 0.57 0.07 0.6324 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.20442 NA NA 0.721912 0.156065 NA 0.391 NA 1.940888 1458 19 1011823 1011823 A G intronic TMEM259 NA NA NA intronic ENSG00000182087 NA NA NA NA NA 19p13.3 NA NA NA NA rs2240161 0.64 0.64 0.674 0.674321 0.6809 0.5308 0.5245 0.8109 0.7372 0.68 0.5 0.57 0.8 0.7045 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97799 NA NA 0.674419 0.796236 NA 0.21 NA 1.940181 1458 17 17179299 17179299 C G intronic COPS3 NA NA NA intronic ENSG00000141030 NA NA NA NA NA 17p11.2 NA NA NA NA rs4985760 0.76 0.76 0.765 0.751398 0.6849 0.8462 0.7017 0.7912 0.7035 0.7 0.86 0.69 0.78 0.7032 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913416 NA NA 0.671744 0.748525 NA 0.732 NA 1.940156 1458 22 25625554 25625554 G A intronic CRYBB2 NA NA NA intronic ENSG00000244752 NA NA NA NA NA 22q11.23 NA NA NA NA rs4049505 0.78 0.78 0.786 0.791933 0.668 0.9633 0.7219 0.792 0.7924 0.69 0.96 0.72 0.76 0.7242 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202462 NA NA 0.669535 0.783704 NA 0.681 NA 1.938265 1458 17 7192198 7192198 T G intronic YBX2 NA NA NA intronic ENSG00000006047 NA NA NA NA NA 17p13.1 NA NA NA NA rs222841 0.49 0.49 0.438 0.473842 0.7068 0.3601 0.5331 0.3033 0.5399 0.67 0.36 0.59 0.28 0.6315 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537362 NA NA 0.724884 0.368588 NA 0.486 NA 1.936816 1459 19 50140209 50140209 C T intronic RRAS NA NA NA intronic ENSG00000126458 NA NA NA NA NA 19q13.33 NA NA NA NA rs1368463 0.76 0.76 0.757 0.73742 0.6978 0.8343 0.7954 0.7769 0.5838 0.7 0.86 0.75 0.77 0.7041 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158927 NA NA 0.663256 0.761235 NA 0.783 NA 1.934844 1459 14 55902542 55902542 G A intronic TBPL2 NA NA NA intronic ENSG00000182521 NA NA NA NA NA 14q22.3 NA NA NA NA rs7149317 0.73 0.73 0.699 0.742412 0.6859 0.6786 0.7738 0.8124 0.7495 0.68 0.68 0.8 0.8 0.7117 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673508 NA NA 0.667948 0.800182 NA 0.674 NA 1.934452 1459 14 90767746 90767746 C A intronic NRDE2 NA NA NA intronic ENSG00000119720 NA NA NA NA NA 14q32.11 NA NA NA NA rs3742669 0.7 0.7 0.696 0.682708 0.671 0.7976 0.6499 0.59 0.7249 0.68 0.8 0.65 0.64 0.6967 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117066 NA NA 0.698069 0.613482 NA 0.688 NA 1.934231 1459 6 76022090 76022090 G C intronic FILIP1 NA NA NA intronic ENSG00000118407 NA NA NA NA NA 6q14.1 NA NA NA NA rs9343281 0.67 0.67 0.692 0.70008 0.6809 0.5734 0.6441 0.8381 0.7035 0.68 0.55 0.66 0.81 0.6847 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088554 NA NA 0.700233 0.81911 NA 0.826 NA 1.934167 1459 2 170665108 170665108 G A intronic SSB NA NA NA intronic ENSG00000138385 NA NA NA NA NA 2q31.1 NA NA NA NA rs2556352 0.59 0.59 0.566 0.564896 0.7097 0.4653 0.7248 0.4834 0.5153 0.7 0.48 0.71 0.46 0.6549 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22808 NA NA 0.702674 0.526782 NA 0.638 NA 1.932726 1459 2 26533023 26533023 C T intronic GPR113 NA NA NA intronic ENSG00000138018,ENSG00000173567 NA NA NA NA NA 2p23.3 NA NA NA NA rs3851967 0.67 0.67 0.664 0.626198 0.6928 0.7034 0.6931 0.5098 0.5879 0.7 0.75 0.67 0.52 0.6736 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089615 NA NA 0.701512 0.528143 NA 0.486 NA 1.932088 1459 3 73437112 73437112 A G intronic PDZRN3 NA NA NA intronic ENSG00000121440 NA NA NA NA NA 3p13 NA NA NA NA rs6549532 0.8 0.8 0.81 0.782348 0.668 0.8591 0.7435 0.9349 0.6421 0.68 0.88 0.74 0.92 0.7263 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097017 NA NA 0.673721 0.896959 NA 0.826 NA 1.931979 1459 17 27004703 27004703 C A intronic SUPT6H NA NA NA intronic ENSG00000109111 NA NA NA NA NA 17q11.2 NA NA NA NA rs7207976 0.62 0.62 0.604 0.622604 0.6968 0.7748 0.6772 0.3684 0.6943 0.7 0.72 0.66 0.36 0.6677 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08254 NA NA 0.704535 0.418747 NA 0.594 NA 1.930965 1459 9 35711806 35711806 G T intronic TLN1 NA NA NA intronic ENSG00000137076 NA NA NA NA NA 9p13.3 NA NA NA NA rs2249250 0.6 0.6 0.567 0.624601 0.6909 0.5883 0.6729 0.447 0.7996 0.7 0.56 0.67 0.42 0.6851 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660396 NA NA 0.693256 0.489333 NA 0.601 NA 1.930744 1459 17 7193060 7193060 A G intronic YBX2 NA NA NA intronic ENSG00000006047 NA NA NA NA NA 17p13.1 NA NA NA NA rs55781423 0.52 0.52 NA 0.503195 0.7068 0.3562 0.5432 0.4085 0.545 0.7 0.36 0.59 0.37 0.6358 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.161413 NA NA 0.727262 0.452543 NA 0.551 NA 1.930138 1459 1 6695802 6695802 A G intronic DNAJC11 NA NA NA intronic ENSG00000007923 NA NA NA NA NA 1p36.31 NA NA NA NA rs6577583 0.66 0.66 0.683 0.702476 0.6968 0.6359 0.6182 0.733 0.7955 0.68 0.63 0.64 0.71 0.6737 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344099 NA NA 0.699419 0.712665 NA 0.761 NA 1.930081 1459 17 3665160 3665160 C G intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA NA NA NA rs220471 0.58 0.58 0.604 0.561701 0.7495 0.1875 0.5231 0.823 0.4284 0.74 0.18 0.57 0.81 0.6091 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500216 NA NA 0.712093 0.793463 NA 0.572 NA 1.929307 1459 1 110169957 110169957 A G intronic AMPD2 NA NA NA intronic ENSG00000116337 NA NA NA NA NA 1p13.3 NA NA NA NA rs524998 0.82 0.82 0.825 0.850439 0.6769 0.9812 0.7867 0.8865 0.8906 0.67 0.99 0.77 0.9 0.7462 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.954159 NA NA 0.648023 0.864276 NA 0.819 NA 1.928877 1459 5 176011264 176011264 T C intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs752139 0.58 0.58 0.569 0.557907 0.6968 0.3502 0.6628 0.6044 0.4918 0.7 0.34 0.72 0.57 0.6475 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.028363 NA NA 0.727209 0.642306 NA 0.543 NA 1.928491 1459 12 23998888 23998888 T C intronic SOX5 NA NA NA intronic ENSG00000134532 NA NA NA NA NA 12p12.1 NA NA NA NA rs7980561 0.7 0.7 0.68 0.736621 0.665 0.8938 0.7334 0.5885 0.8507 0.65 0.88 0.72 0.57 0.7229 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254532 NA NA 0.683837 0.605311 NA 0.609 NA 1.928263 1459 6 8016089 8016089 C T ncRNA_intronic BLOC1S5-TXNDC5,EEF1E1-MUTED NA NA NA intronic ENSG00000188428,ENSG00000259040,ENSG00000265818 NA NA NA NA NA 6p24.3 NA NA NA NA rs2057185 0.81 0.81 0.806 0.785543 0.8042 0.9712 0.817 0.6135 0.7853 0.82 0.97 0.81 0.6 0.8054 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419773 NA NA 0.795814 0.610304 NA 0.739 NA 1.9279193 1459 4 120072233 120072233 G C intronic MYOZ2 NA NA NA intronic ENSG00000172399 NA NA NA NA NA 4q26 NA NA NA NA rs6828875 0.57 0.57 0.516 0.54353 0.7008 0.6141 0.6657 0.2458 0.6247 0.72 0.6 0.64 0.26 0.6479 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659384 NA NA 0.724523 0.320926 NA 0.587 NA 1.926777 1459 5 175995935 175995935 C T intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs10056130 0.54 0.54 0.55 0.511382 0.6988 0.3562 0.6556 0.4274 0.4898 0.7 0.35 0.7 0.41 0.6381 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821235 NA NA 0.736512 0.449841 NA 0.435 NA 1.926588 1459 4 120072238 120072238 A G intronic MYOZ2 NA NA NA intronic ENSG00000172399 NA NA NA NA NA 4q26 NA NA NA NA rs6828349 0.57 0.57 0.515 0.544129 0.7008 0.6141 0.6657 0.2481 0.6247 0.72 0.6 0.64 0.26 0.6482 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412286 NA NA 0.724756 0.321072 NA 0.587 NA 1.926244 1459 6 55381262 55381262 G A intronic HMGCLL1 NA NA NA intronic ENSG00000146151 NA NA NA NA NA 6p12.1 NA NA NA NA rs6459082 0.66 0.66 0.65 0.648163 0.6938 0.5754 0.7536 0.6536 0.5941 0.7 0.57 0.73 0.65 0.6724 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972317 NA NA 0.707679 0.653061 NA 0.551 NA 1.926121 1460 19 6151703 6151703 C T intronic ACSBG2 NA NA NA intronic ENSG00000087903,ENSG00000130377 NA NA NA NA NA 19p13.3 NA NA NA NA rs7252466 0.64 0.64 0.588 0.600639 0.7028 0.6825 0.7176 0.382 0.6237 0.71 0.7 0.73 0.41 0.6986 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.515506 1.515506 NA 0.674924 0.439373 NA 0.58 NA 1.923676 1460 9 123908345 123908345 G A intronic CNTRL NA NA NA intronic ENSG00000119397 NA NA NA NA NA 9q33.2 NA NA NA NA rs7023214 0.64 0.64 0.595 0.644968 0.6968 0.7788 0.7421 0.2564 0.91 0.7 0.8 0.75 0.27 0.6934 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.742296 1.742296 NA 0.687224 0.333637 NA 0.551 NA 1.922576 1460 10 11330525 11330525 G A intronic CELF2 NA NA NA intronic ENSG00000048740 NA NA NA NA NA 10p14 NA NA NA NA rs2277214 0.51 0.51 0.506 0.486222 0.7127 0.3512 0.5274 0.3464 0.5521 0.72 0.36 0.53 0.34 0.6239 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142175 NA NA 0.741351 0.426614 NA 0.674 NA 1.922049 1460 10 124742586 124742586 G A intronic PSTK NA NA NA intronic ENSG00000179988 NA NA NA NA NA 10q26.13 NA NA NA NA rs3736585 0.59 0.59 0.601 0.581869 0.7296 0.3919 0.5591 0.6589 0.5378 0.73 0.38 0.59 0.63 0.6361 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.012505 NA NA 0.712518 0.646308 ID=COSN163800;OCCURENCE=1(breast) 0.601 NA 1.921782 1460 13 87045827 87045827 T C intergenic SLITRK6,MIR4500HG dist=672344;dist=1050415 NA NA intergenic ENSG00000214181,ENSG00000231879 dist=116303;dist=331928 NA NA NA NA 13q31.1 NA NA NA NA rs9513670 0.47 0.47 0.429 0.4375 0.4652 0.7004 0.5303 0.1573 0.4509 0.47 0.67 0.52 0.19 0.4891 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826899 NA NA 0.457559 0.198286 NA 0.333 NA 1.9214744 1460 1 181686216 181686216 T C intronic CACNA1E NA NA NA intronic ENSG00000198216 NA NA NA NA NA 1q25.3 NA NA NA NA rs7540850 0.6 0.6 0.564 0.555112 0.6829 0.755 0.6311 0.2005 0.6431 0.69 0.78 0.58 0.27 0.6736 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064791 NA NA 0.723097 0.312112 NA 0.696 NA 1.920403 1460 22 25124095 25124095 C T intronic PIWIL3 NA NA NA intronic ENSG00000184571 NA NA NA NA NA 22q11.23 NA NA NA NA rs738827 0.66 0.66 0.694 0.648363 0.6849 0.8254 0.4971 0.503 0.7321 0.69 0.82 0.54 0.52 0.6746 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051371 NA NA 0.721744 0.561961 NA 0.688 NA 1.918756 1460 1 220808921 220808921 T C intronic MARK1 NA NA NA intronic ENSG00000116141 NA NA NA NA NA 1q41 NA NA NA NA rs10746403 0.69 0.69 0.688 0.705272 0.7008 0.5377 0.5836 0.9357 0.6575 0.68 0.5 0.63 0.94 0.6799 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.608706 NA NA 0.701279 0.898547 NA 0.659 NA 1.918021 1460 12 27867706 27867706 C T intronic MRPS35 NA NA NA intronic ENSG00000061794 NA NA NA NA NA 12p11.22 NA NA NA NA rs11049106 0.75 0.75 0.748 0.734625 0.7008 0.6657 0.7565 0.885 0.6217 0.69 0.69 0.77 0.89 0.6977 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044261 NA NA 0.683488 0.839991 NA 0.855 NA 1.918012 1460 12 133372395 133372395 A C intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs4758905 0.71 0.71 0.711 0.665935 0.7087 0.8056 0.7133 0.5582 0.59 0.73 0.81 0.71 0.56 0.6914 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.254328 NA NA 0.681977 0.561507 NA 0.601 NA 1.917923 1460 21 35284734 35284734 A G intronic ATP5O NA NA NA intronic ENSG00000241837 NA NA NA NA NA 21q22.11 NA NA NA NA rs2211873 0.68 0.68 0.696 0.702276 0.6958 0.7391 0.5591 0.736 0.727 0.67 0.7 0.6 0.74 0.6917 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401043 NA NA 0.695116 0.71153 NA 0.63 NA 1.917384 1460 14 64375985 64375985 G T intronic SYNE2 NA NA NA intronic ENSG00000054654 NA NA NA NA NA 14q23.2 NA NA NA NA rs2275018 0.6 0.6 0.564 0.621206 0.7018 0.4782 0.6988 0.5023 0.7914 0.72 0.48 0.72 0.48 0.6805 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583991 NA NA 0.700488 0.534903 NA 0.717 NA 1.917212 1460 17 7474277 7474277 C T ncRNA_intronic SENP3-EIF4A1 NA NA NA ncRNA_intronic ENSG00000265500 NA NA NA NA NA 17p13.1 NA NA NA NA rs4968213 0.74 0.74 0.742 0.727835 0.9433 0.5615 0.6153 0.6218 0.9008 0.96 0.58 0.72 0.62 0.8558 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.354206 NA NA 0.950396 0.716934 NA 0.797 NA 1.9171706 1460 2 113308622 113308622 C T intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA NA NA NA rs3816140 0.54 0.54 0.549 0.553115 0.6938 0.4038 0.5562 0.4992 0.6329 0.69 0.35 0.6 0.5 0.6495 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533428 NA NA 0.74 0.556287 NA 0.638 NA 1.9167 1460 2 220046349 220046349 G C intronic FAM134A NA NA NA intronic ENSG00000144567 NA NA NA NA NA 2q35 NA NA NA NA rs2272017 0.48 0.48 0.455 0.461062 0.7256 0.2371 0.4769 0.3253 0.592 0.75 0.25 0.52 0.33 0.6251 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003345 NA NA 0.732674 0.389469 NA 0.522 NA 1.916626 1460 9 123928486 123928486 T C intronic CNTRL NA NA NA intronic ENSG00000119397 NA NA NA NA NA 9q33.2 NA NA NA NA rs2273988 0.64 0.64 0.605 0.644169 0.6938 0.7778 0.7406 0.2557 0.9121 0.69 0.8 0.75 0.26 0.7002 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.276765 2.276765 NA 0.689419 0.331366 NA 0.543 NA 1.916581 1460 10 124329746 124329746 A T intronic DMBT1 NA NA NA intronic ENSG00000187908 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740222 0.7 0.7 0.677 0.705671 0.6789 0.7758 0.7882 0.612 0.729 0.69 0.77 0.78 0.58 0.7161 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067301 NA NA 0.68916 0.64168 NA 0.732 NA 1.91584 1461 4 66218728 66218728 C T intronic EPHA5 NA NA NA intronic ENSG00000145242 NA NA NA NA NA 4q13.1 NA NA NA NA rs3792649 0.67 0.67 0.658 0.658746 0.7117 0.8194 0.6585 0.4357 0.7403 0.71 0.8 0.65 0.48 0.6847 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787436 NA NA 0.688765 0.496596 NA 0.696 NA 1.914835 1461 1 193051685 193051685 G A intronic TROVE2 NA NA NA intronic ENSG00000116747 NA NA NA NA NA 1q31.2 NA NA NA NA rs2275444 0.59 0.59 0.569 0.59345 0.6849 0.4435 0.6614 0.5242 0.6994 0.68 0.44 0.68 0.55 0.6761 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348327 NA NA 0.724282 0.544085 NA 0.58 NA 1.914718 1461 16 23768802 23768802 T G intronic CHP2 NA NA NA intronic ENSG00000166869 NA NA NA NA NA 16p12.2 NA NA NA NA rs80950 0.72 0.72 0.728 0.727236 0.7068 0.9226 0.5461 0.6188 0.8221 0.71 0.91 0.58 0.61 0.6933 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108658 NA NA 0.685581 0.634046 NA 0.688 NA 1.914319 1461 19 48253579 48253579 A G intronic GLTSCR2 NA NA NA intronic ENSG00000105373 NA NA NA NA NA 19q13.33 NA NA NA NA rs3745754 0.68 0.68 0.674 0.692891 0.6799 0.5536 0.6844 0.7844 0.7321 0.69 0.55 0.69 0.82 0.6962 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71094 NA NA 0.709651 0.775533 NA 0.812 NA 1.914249 1461 16 23221183 23221183 A G intronic SCNN1G NA NA NA ncRNA_intronic ENSG00000260741 NA NA NA NA NA 16p12.2 NA NA NA NA rs5740 0.81 0.81 0.768 0.783746 0.8042 0.872 0.8732 0.6135 0.8384 0.8 0.9 0.87 0.67 0.8106 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644345 NA NA 0.806512 0.654529 NA 0.79 NA 1.9120213 1461 4 73615956 73615956 C T intergenic ADAMTS3,COX18 dist=181440;dist=304460 NA NA intergenic ENSG00000156140,ENSG00000270665 dist=181440;dist=57028 NA NA NA NA 4q13.3 NA NA NA NA rs1350836 0.38 0.38 0.353 0.383986 0.4742 0.4018 0.4467 0.1952 0.4836 0.47 0.38 0.41 0.22 0.4585 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991845 NA NA 0.488699 0.233447 NA 0.275 NA 1.9119344 1461 1 85595645 85595645 C T intronic WDR63 NA NA NA intronic ENSG00000162643 NA NA NA NA NA 1p22.3 NA NA NA NA rs1020770 0.58 0.58 0.577 0.598842 0.6978 0.5685 0.6354 0.3782 0.8006 0.69 0.58 0.61 0.4 0.684 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233128 NA NA 0.706744 0.427145 NA 0.645 NA 1.911456 1461 1 103444679 103444679 T G intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs11164649 0.64 0.64 0.6 0.629193 0.7018 0.9127 0.6916 0.1717 0.8364 0.71 0.91 0.72 0.18 0.6912 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447448 NA NA 0.69593 0.270086 NA 0.667 NA 1.91107 1461 1 236724605 236724605 G T intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs1077438 0.62 0.62 0.603 0.578674 0.7078 0.6538 0.621 0.4493 0.5133 0.7 0.66 0.63 0.46 0.663 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092158 NA NA 0.719586 0.499773 NA 0.667 NA 1.909614 1461 12 10271055 10271055 T C UTR3 CLEC7A NM_022570:c.*2A>G,NM_197950:c.*2A>G,NM_197949:c.*57A>G,NM_197948:c.*57A>G,NM_197947:c.*2A>G NA NA UTR3 ENSG00000172243 ENST00000529761:c.*2A>G,ENST00000353231:c.*2A>G,ENST00000298523:c.*57A>G,ENST00000396484:c.*2A>G,ENST00000304084:c.*2A>G NA NA NA NA 12p13.2 NA NA NA NA rs7959451 0.67 0.67 0.677 0.640575 0.835 0.3056 0.6599 0.8699 0.4622 0.82 0.3 0.68 0.85 0.7415 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002202 NA NA 0.850814 0.87744 ID=COSN164166;OCCURENCE=1(breast) 0.79 NA 1.9060194 1461 10 97397227 97397227 T C intronic ALDH18A1 NA NA NA intronic ENSG00000059573 NA NA NA NA NA 10q24.1 NA NA NA NA rs2275273 0.66 0.66 0.633 0.642572 0.6909 0.749 0.7147 0.5378 0.5736 0.7 0.75 0.7 0.49 0.6862 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212713 NA NA 0.717093 0.568316 NA 0.58 NA 1.905807 1461 17 10549184 10549184 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2239933 0.5 0.5 0.493 0.464257 0.7584 0.375 0.5346 0.2383 0.5092 0.74 0.36 0.52 0.27 0.6073 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266238 NA NA 0.728605 0.294144 NA 0.609 NA 1.905695 1461 17 10555028 10555028 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2285466 0.5 0.5 0.472 0.464058 0.7584 0.375 0.5346 0.2375 0.5092 0.74 0.36 0.52 0.27 0.6076 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414112 NA NA 0.728605 0.294144 NA 0.565 NA 1.905395 1462 17 10535761 10535761 G A intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs4792008 0.5 0.5 0.473 0.466853 0.7584 0.3849 0.5346 0.2398 0.5102 0.74 0.37 0.52 0.27 0.6095 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644251 NA NA 0.727674 0.295279 NA 0.616 NA 1.904426 1462 1 160151450 160151450 T C intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs7519748 0.8 0.8 0.801 0.805511 0.6909 0.8889 0.7954 0.8941 0.7249 0.68 0.89 0.78 0.92 0.733 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002678 NA NA 0.674651 0.860418 NA 0.797 NA 1.901449 1462 11 20404506 20404506 T C intronic HTATIP2 NA NA NA intronic ENSG00000109854 NA NA NA NA NA 11p15.1 NA NA NA NA rs2403587 0.58 0.58 NA 0.462061 0.5268 0.3671 0.4769 0.4327 0.5225 0.71 0.41 0.65 0.52 0.6569 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291046 NA NA 0.914958 0.663785 NA 0.71 NA 1.901342 1462 1 151019180 151019180 A G UTR3 BNIPL NM_001159642:c.*17A>G,NM_138278:c.*17A>G NA NA UTR3 ENSG00000163141 ENST00000368931:c.*17A>G,ENST00000295294:c.*17A>G,ENST00000361277:c.*17A>G NA NA NA NA 1q21.3 NA NA NA NA rs6587553 0.81 0.81 0.804 0.811502 0.8111 0.9077 0.8228 0.7118 0.8395 0.81 0.91 0.83 0.69 0.813 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.078103 3.078103 NA 0.808488 0.718112 NA 0.746 NA 1.9007454 1462 3 190341241 190341241 C A intronic IL1RAP NA NA NA intronic ENSG00000196083 NA NA NA NA NA 3q28 NA NA NA NA rs4687160 0.67 0.67 0.657 0.652955 0.6849 0.8125 0.6354 0.4894 0.6892 0.69 0.78 0.66 0.51 0.7034 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035082 NA NA 0.714302 0.550159 NA 0.659 NA 1.897398 1462 14 94097287 94097287 G A intronic UNC79 NA NA NA intronic ENSG00000133958 NA NA NA NA NA 14q32.12 NA NA NA NA rs2148563 0.66 0.66 0.656 0.679712 0.7167 0.3859 0.7305 0.8623 0.6616 0.72 0.39 0.76 0.81 0.6814 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104275 NA NA 0.704535 0.839083 NA 0.732 NA 1.897365 1462 2 121744225 121744225 A G intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA NA NA NA rs2276553 0.57 0.57 0.575 0.519569 0.7276 0.4921 0.5865 0.3744 0.4826 0.72 0.52 0.6 0.38 0.641 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73816 NA NA 0.734589 0.425329 NA 0.63 NA 1.896811 1462 20 3673815 3673815 A G intronic SIGLEC1 NA NA NA intronic ENSG00000088827 NA NA NA NA NA 20p13 NA NA NA NA rs2474436 0.78 0.78 0.755 0.803115 0.6829 0.8621 0.7219 0.907 0.7832 0.7 0.85 0.69 0.88 0.7429 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283398 NA NA 0.678605 0.874595 NA 0.804 NA 1.895595 1463 9 101814626 101814626 C G intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA NA NA rs4142986 0.84 0.84 0.851 0.848442 0.6859 0.9087 0.8184 0.9879 0.7863 0.72 0.92 0.79 0.97 0.7478 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086146 NA NA 0.672791 0.946891 NA 0.819 NA 1.893509 1463 12 10532111 10532111 T G intronic KLRC4-KLRK1,KLRK1 NA NA NA ncRNA_intronic ENSG00000245648 NA NA NA NA NA 12p13.2 NA NA NA NA rs2255353 0.76 0.76 0.739 0.76238 0.8171 0.7857 0.8401 0.553 0.91 0.82 0.82 0.81 0.59 0.8188 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77049 NA NA 0.804073 0.59267 NA 0.623 NA 1.8933603 1463 14 75278302 75278302 G A intronic YLPM1 NA NA NA intronic ENSG00000119596 NA NA NA NA NA 14q24.3 NA NA NA NA rs8022046 0.72 0.72 0.738 0.727636 0.7048 0.7976 0.7594 0.6891 0.7086 0.7 0.77 0.72 0.68 0.7084 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770488 NA NA 0.693805 0.697484 NA 0.819 NA 1.892995 1463 10 126185618 126185618 A G intronic LHPP NA NA NA intronic ENSG00000107902 NA NA NA NA NA 10q26.13 NA NA NA NA rs3824810 0.7 0.7 0.696 0.728435 0.6918 0.5913 0.6816 0.8185 0.819 0.7 0.61 0.7 0.81 0.7245 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0055 NA NA 0.69093 0.775533 NA 0.652 NA 1.89277 1463 10 22193422 22193422 T C intronic DNAJC1 NA NA NA intronic ENSG00000136770 NA NA NA NA NA 10p12.31 NA NA NA NA rs792455 0.73 0.73 0.722 0.717851 0.6889 0.9821 0.6499 0.5212 0.7894 0.69 0.99 0.66 0.54 0.7286 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672637 NA NA 0.689804 0.549591 NA 0.565 NA 1.892696 1463 12 10532434 10532434 A G intronic KLRC4-KLRK1,KLRK1 NA NA NA ncRNA_exonic ENSG00000245648 NA NA NA NA NA 12p13.2 NA NA NA NA rs2617151 0.82 0.82 0.816 0.824281 0.8171 0.7857 0.8746 0.7693 0.91 0.82 0.82 0.85 0.81 0.8245 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07566 NA NA 0.799209 0.761136 NA 0.732 NA 1.8925243 1463 1 7811215 7811215 A G intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs10779689 0.64 0.64 0.6 0.616014 0.7167 0.4881 0.7882 0.5968 0.5481 0.72 0.49 0.74 0.64 0.6825 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.070881 NA NA 0.711047 0.627326 NA 0.558 NA 1.889753 1463 19 49459104 49459104 A G intronic BAX NA NA NA intronic ENSG00000087088 NA NA NA NA NA 19q13.33 NA NA NA NA rs1805419 0.64 0.64 0.641 0.621805 0.7157 0.5873 0.5879 0.5847 0.635 0.69 0.63 0.61 0.58 0.6744 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.06759 3.06759 NA 0.720349 0.593509 NA 0.717 NA 1.889551 1463 2 79312414 79312414 G A intronic REG1B NA NA NA intronic ENSG00000172023 NA NA NA NA NA 2p12 NA NA NA NA rs3739144 0.64 0.64 0.62 0.638578 0.7117 0.6558 0.7752 0.5477 0.5716 0.71 0.62 0.72 0.49 0.6822 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214921 NA NA 0.717558 0.58965 ID=COSM148882;OCCURENCE=1(stomach) 0.674 NA 1.888542 1463 1 220207017 220207017 C T ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs2647456 0.88 0.88 0.899 0.899161 0.7932 0.9405 0.8732 0.9902 0.8609 0.79 0.94 0.85 0.98 0.8438 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.282294 NA NA 0.80907 0.95665 NA 0.891 NA 1.8872633 1463 6 159188128 159188128 A G intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA NA NA NA rs2242318 0.52 0.52 0.501 0.522963 0.7376 0.2153 0.4337 0.5605 0.6319 0.75 0.18 0.5 0.56 0.6369 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618733 NA NA 0.738256 0.618702 NA 0.522 NA 1.887244 1463 1 220160433 220160433 A G ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs2647434 0.88 0.88 0.895 0.895966 0.7952 0.9474 0.8732 0.9902 0.8354 0.79 0.95 0.85 0.98 0.843 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811579 NA NA 0.809025 0.957104 NA 0.877 NA 1.8861083 1463 11 69999122 69999122 A C intronic ANO1 NA NA NA intronic ENSG00000131620 NA NA NA NA NA 11q13.3 NA NA NA NA rs10160639 0.72 0.72 0.727 0.689696 0.6978 0.7718 0.6527 0.6868 0.6268 0.72 0.79 0.66 0.68 0.7072 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709017 NA NA 0.708917 0.701655 NA 0.696 NA 1.886083 1463 10 26443646 26443646 G A intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3818956 0.7 0.7 0.71 0.682708 0.7276 0.6359 0.7118 0.708 0.6299 0.73 0.68 0.68 0.67 0.696 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261474 NA NA 0.691163 0.708579 NA 0.703 NA 1.885237 1464 17 81051007 81051007 G T intronic METRNL NA NA NA intronic ENSG00000176845 NA NA NA NA NA 17q25.3 NA NA NA NA rs7502442 0.61 0.61 0.65 0.609425 0.7217 0.4633 0.5389 0.6399 0.6534 0.72 0.41 0.58 0.69 0.6743 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.219622 NA NA 0.722261 0.626476 NA 0.638 NA 1.881739 1464 1 57185818 57185818 A G intronic C1orf168 NA NA NA intronic ENSG00000187889 NA NA NA NA NA 1p32.2 NA NA NA NA rs857141 0.79 0.79 0.81 0.832668 0.669 0.8254 0.7954 0.9811 0.8344 0.68 0.82 0.77 0.96 0.7565 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302545 NA NA 0.693492 0.937045 NA 0.797 NA 1.881008 1464 6 27435707 27435707 G A intronic ZNF184 NA NA NA intronic ENSG00000096654 NA NA NA NA NA 6p22.1 NA NA NA NA rs2272814 0.62 0.62 0.613 0.638778 0.7147 0.5774 0.7017 0.5401 0.7127 0.71 0.55 0.68 0.52 0.687 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472597 NA NA 0.717791 0.558103 NA 0.667 NA 1.880509 1464 16 28925978 28925978 T C intronic RABEP2 NA NA NA intronic ENSG00000177548 NA NA NA NA NA 16p11.2 NA NA NA NA rs3924376 0.8 0.8 0.814 0.823283 0.7187 0.8839 0.5418 0.9917 0.8405 0.72 0.87 0.64 0.99 0.719 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.777012 NA NA 0.684517 0.929373 NA 0.87 NA 1.877783 1464 3 195487737 195487737 A G intronic MUC4 NA NA NA intronic ENSG00000145113 NA NA NA NA NA 3q29 NA NA NA NA rs2246771 0.7 0.7 0.723 0.691294 0.7157 0.7798 0.5994 0.7186 0.6033 0.72 0.74 0.59 0.72 0.6921 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.615667 NA NA 0.714419 0.722197 NA 0.652 NA 1.877781 1464 22 26222505 26222505 G A intronic MYO18B NA NA NA intronic ENSG00000133454 NA NA NA NA NA 22q12.1 NA NA NA NA rs2331162 0.58 0.58 0.56 0.572484 0.7157 0.6696 0.6513 0.2345 0.726 0.69 0.68 0.64 0.25 0.6788 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435322 NA NA 0.727986 0.332992 NA 0.529 NA 1.877514 1464 14 22280199 22280199 C T intergenic OR4E2,DAD1 dist=145961;dist=753608 NA NA downstream ENSG00000211783 NA NA NA NA NA 14q11.2 NA NA NA NA rs2733773 0.46 0.46 0.443 0.414936 0.5746 0.3363 0.4308 0.3585 0.3967 0.58 0.36 0.46 0.38 0.4996 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712639 NA NA 0.548814 0.346391 NA 0.442 NA 1.876986 1464 6 30553871 30553871 C T intronic ABCF1 NA NA NA intronic ENSG00000204574 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264437 0.72 0.72 0.741 0.752596 0.6988 0.6706 0.6268 0.8449 0.8569 0.71 0.71 0.62 0.81 0.7262 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038388 NA NA 0.699721 0.837119 NA 0.768 NA 1.875279 1465 1 220156090 220156090 T C ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs2647462 0.84 0.84 0.841 0.836462 0.8111 0.9216 0.804 0.7995 0.8476 0.81 0.92 0.8 0.82 0.8259 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022927 NA NA 0.821628 0.794371 NA 0.848 NA 1.8747053 1465 7 38782951 38782951 G A intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA NA NA 7p14.1 NA NA NA NA rs10254567 0.64 0.64 0.627 0.557109 0.7167 0.5565 0.8055 0.4501 0.362 0.72 0.56 0.78 0.49 0.6687 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956265 NA NA 0.740056 0.519746 NA 0.681 NA 1.874544 1465 2 17773524 17773524 G A intronic VSNL1 NA NA NA intronic ENSG00000163032 NA NA NA NA NA 2p24.2 NA NA NA NA rs2680827 0.7 0.7 0.647 0.704273 0.6918 0.9881 0.7046 0.3691 0.8773 0.69 0.98 0.69 0.38 0.735 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.130654 NA NA 0.698721 0.443259 NA 0.638 NA 1.874479 1465 5 180041208 180041208 T C intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs659268 0.67 0.67 0.605 0.671925 0.7266 0.5784 0.7954 0.6301 0.681 0.73 0.55 0.74 0.67 0.6967 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223799 NA NA 0.702674 0.638675 NA 0.087 NA 1.874026 1465 18 5433570 5433570 A C intronic EPB41L3 NA NA NA intronic ENSG00000082397 NA NA NA NA NA 18p11.31 NA NA NA NA rs2272130 0.56 0.56 0.505 0.514976 0.7296 0.5685 0.6744 0.1974 0.5552 0.74 0.6 0.66 0.17 0.669 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.758211 NA NA 0.727907 0.286428 NA 0.58 NA 1.873493 1465 1 111770423 111770423 T G intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs755467 0.68 0.68 0.666 0.690895 0.6978 0.6716 0.683 0.6657 0.7434 0.7 0.65 0.7 0.68 0.7132 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724206 NA NA 0.71593 0.658874 NA 0.623 NA 1.87307 1465 10 6261704 6261704 T C intronic PFKFB3 NA NA NA intronic ENSG00000170525 NA NA NA NA NA 10p15.1 NA NA NA NA rs1557111 0.71 0.71 0.687 0.678914 0.7237 0.7381 0.6729 0.6952 0.5542 0.73 0.72 0.66 0.71 0.6894 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272813 NA NA 0.713837 0.692011 NA 0.623 NA 1.873063 1465 8 95952477 95952477 A G intronic TP53INP1 NA NA NA intronic ENSG00000156170,ENSG00000164938 NA NA NA NA NA 8q22.1 NA NA NA NA rs2956210 0.68 0.68 0.667 0.677915 0.7237 0.7808 0.6873 0.5174 0.7352 0.74 0.75 0.69 0.52 0.7017 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731735 NA NA 0.70287 0.546538 NA 0.732 NA 1.87173 1465 15 40558744 40558744 G A intronic PAK6 NA NA NA intronic ENSG00000137843,ENSG00000259288 NA NA NA NA NA 15q15.1 NA NA NA NA rs748556 0.54 0.54 0.542 0.506989 0.7356 0.3353 0.4971 0.4539 0.5276 0.74 0.32 0.54 0.48 0.6465 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978509 NA NA 0.749243 0.51549 NA 0.449 NA 1.868657 1465 17 42855472 42855472 T C intronic ADAM11 NA NA NA intronic ENSG00000073670 NA NA NA NA NA 17q21.31 NA NA NA NA rs2070604 0.68 0.68 0.651 0.669529 0.7445 0.7708 0.7233 0.4516 0.7444 0.74 0.78 0.7 0.46 0.6946 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.207446 NA NA 0.693605 0.518838 NA 0.725 NA 1.867295 1465 16 19505730 19505730 T C intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA NA NA rs2245423 0.55 0.55 0.487 0.565495 0.7187 0.4623 0.5288 0.3979 0.7669 0.74 0.43 0.55 0.38 0.6819 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475767 NA NA 0.732147 0.441056 NA 0.37 NA 1.867253 1465 16 75148604 75148604 G A intronic LDHD NA NA NA intronic ENSG00000166816 NA NA NA NA NA 16q23.1 NA NA NA NA rs755099 0.44 0.44 0.42 0.396166 0.7276 0.1776 0.5072 0.2519 0.3967 0.73 0.16 0.56 0.23 0.6598 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.704698 1.704698 NA 0.745721 0.370856 NA 0.536 NA 1.866879 1465 12 120750239 120750239 A G intronic SIRT4 NA NA NA intronic ENSG00000089163 NA NA NA NA NA 12q24.31 NA NA NA NA rs2261612 0.65 0.65 0.643 0.684904 0.7157 0.495 0.781 0.6974 0.7638 0.72 0.48 0.75 0.69 0.7054 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.463744 NA NA 0.712209 0.720608 NA 0.725 NA 1.866691 1465 8 105367096 105367096 T C intronic DCSTAMP NA NA NA intronic ENSG00000164935 NA NA NA NA NA 8q22.3 NA NA NA NA rs2458431 0.6 0.6 0.569 0.594649 0.7336 0.5536 0.7176 0.3903 0.683 0.72 0.56 0.69 0.39 0.6841 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.904571 2.904571 NA 0.715748 0.421925 NA 0.601 NA 1.866552 1465 1 20977221 20977221 A T UTR3 PINK1 NM_032409:c.*37A>T NA NA ncRNA_exonic ENSG00000117242 NA NA NA NA NA 1p36.12 NA NA NA NA rs686658 0.84 0.84 0.827 0.834465 0.8917 0.8165 0.8112 0.7844 0.8783 0.88 0.82 0.85 0.79 0.8639 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879422 NA NA 0.879274 0.802769 NA 0.819 NA 1.865126 1466 10 118646129 118646129 G C intronic KIAA1598 NA NA NA intronic ENSG00000187164,ENSG00000188316 NA NA NA NA NA 10q25.3 NA NA NA NA rs2531685 0.53 0.53 0.486 0.506589 0.7346 0.4474 0.6066 0.2171 0.6534 0.72 0.45 0.7 0.22 0.66 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.614106 NA NA 0.74058 0.288998 NA 0.536 NA 1.86482 1466 15 28200408 28200408 T C intronic OCA2 NA NA NA intronic ENSG00000104044 NA NA NA NA NA 15q13.1 NA NA NA NA rs7170989 0.45 0.45 0.396 0.428714 0.7505 0.1518 0.5288 0.323 0.455 0.75 0.11 0.55 0.31 0.6203 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330808 NA NA 0.765698 0.388334 NA 0.442 NA 1.863502 1466 16 19503598 19503598 C T intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA NA NA rs1475962 0.55 0.55 0.52 0.564896 0.7187 0.4593 0.5288 0.3979 0.7669 0.74 0.43 0.55 0.38 0.6823 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269245 NA NA 0.737907 0.449477 NA 0.37 NA 1.861093 1466 6 2834265 2834265 C T intronic SERPINB1 NA NA NA intronic ENSG00000021355 NA NA NA NA NA 6p25.2 NA NA NA NA rs386915 0.7 0.7 0.686 0.709665 0.7058 0.747 0.7954 0.6218 0.7331 0.7 0.74 0.78 0.59 0.7109 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.629485 NA NA 0.722992 0.672535 NA 0.681 NA 1.860308 1466 15 60724118 60724118 C G intronic NARG2 NA NA NA intronic ENSG00000128915 NA NA NA NA NA 15q22.2 NA NA NA NA rs12437617 0.68 0.68 0.635 0.678914 0.7117 0.9157 0.7406 0.3222 0.8395 0.7 0.94 0.73 0.33 0.7244 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.999962 NA NA 0.703993 0.365481 NA 0.514 NA 1.859907 1466 9 135979751 135979751 C G intronic RALGDS NA NA NA intronic ENSG00000160271 NA NA NA NA NA 9q34.2 NA NA NA NA rs598499 0.74 0.74 0.733 0.76877 0.7038 0.8433 0.6671 0.7262 0.8885 0.71 0.83 0.65 0.74 0.7404 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86494 NA NA 0.696512 0.727644 NA 0.775 NA 1.859288 1466 6 2685677 2685677 T C intronic MYLK4 NA NA NA intronic ENSG00000145949 NA NA NA NA NA 6p25.2 NA NA NA NA rs966232 0.79 0.79 0.772 0.807508 0.7038 0.8968 0.8689 0.795 0.7955 0.69 0.9 0.84 0.78 0.7488 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193595 NA NA 0.689884 0.797549 NA 0.746 NA 1.857516 1466 19 9003706 9003706 T G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs11085778 0.63 0.63 0.584 0.602236 0.7177 0.6071 0.7248 0.3941 0.6728 0.7 0.67 0.72 0.44 0.6881 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778521 NA NA 0.73719 0.480964 NA 0.551 NA 1.85701 1466 1 220145371 220145371 T G ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs2795315 0.88 0.88 0.893 0.890176 0.8121 0.9216 0.8256 0.9902 0.8487 0.81 0.92 0.82 0.98 0.8425 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.813071 1.813071 NA 0.822919 0.959318 NA 0.833 NA 1.8558143 1467 17 67178954 67178954 C T intronic ABCA10 NA NA NA intronic ENSG00000154263 NA NA NA NA NA 17q24.3 NA NA NA NA rs4968851 0.65 0.65 0.621 0.685703 0.7306 0.4742 0.7767 0.764 0.6871 0.72 0.43 0.74 0.74 0.7031 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742739 NA NA 0.713488 0.763504 NA 0.63 NA 1.852812 1467 13 50054346 50054346 G T intronic SETDB2 NA NA NA intronic ENSG00000136169 NA NA NA NA NA 13q14.2 NA NA NA NA rs7996852 0.82 0.82 0.815 0.820487 0.6899 0.873 0.7839 0.9675 0.728 0.7 0.87 0.8 0.95 0.7572 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366229 NA NA 0.70186 0.932365 NA 0.804 NA 1.85104 1467 7 1522175 1522175 A G intronic INTS1 NA NA NA intronic ENSG00000164880 NA NA NA NA NA 7p22.3 NA NA NA NA rs10224038 0.8 0.8 0.824 0.786741 0.7276 0.746 0.7695 0.9871 0.6309 0.73 0.76 0.76 0.98 0.7313 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104458 NA NA 0.690294 0.932598 NA 0.551 NA 1.850806 1467 11 20959429 20959429 T C intronic NELL1 NA NA NA intronic ENSG00000165973 NA NA NA NA NA 11p15.1 NA NA NA NA rs1880087 0.58 0.58 0.535 0.563898 0.7445 0.5595 0.6974 0.2511 0.7106 0.74 0.58 0.68 0.26 0.6768 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004773 NA NA 0.727907 0.330005 NA 0.623 NA 1.850793 1467 11 117064693 117064693 C G intronic SIDT2 NA NA NA intronic ENSG00000149577 NA NA NA NA NA 11q23.3 NA NA NA NA rs521171 0.53 0.53 0.507 0.48143 0.7376 0.376 0.634 0.3404 0.409 0.72 0.37 0.64 0.33 0.648 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328048 NA NA 0.763966 0.425034 NA 0.558 NA 1.850434 1467 10 121435955 121435955 A C intronic BAG3 NA NA NA intronic ENSG00000151929 NA NA NA NA NA 10q26.11 NA NA NA NA rs196294 0.66 0.66 0.645 0.635184 0.7485 0.4633 0.6931 0.7216 0.5378 0.75 0.48 0.74 0.68 0.6767 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218965 NA NA 0.724471 0.711757 NA 0.761 NA 1.850329 1467 13 50054308 50054308 G A intronic SETDB2 NA NA NA intronic ENSG00000136169 NA NA NA NA NA 13q14.2 NA NA NA NA rs4142285 0.82 0.82 0.815 0.820687 0.6909 0.873 0.7839 0.9675 0.728 0.7 0.87 0.8 0.95 0.7572 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783811 NA NA 0.701744 0.932365 NA 0.804 NA 1.850156 1467 19 9002113 9002113 A G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs12462672 0.63 0.63 0.607 0.602236 0.7177 0.6071 0.7248 0.3941 0.6728 0.7 0.67 0.72 0.44 0.6924 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292468 NA NA 0.740232 0.486396 NA 0.551 NA 1.849668 1467 19 15273248 15273248 A C intronic NOTCH3 NA NA NA exonic ENSG00000074181 NA unknown UNKNOWN NA NA 19p13.12 NA NA NA NA rs4809029 0.87 0.87 0.878 0.870407 0.8817 0.8016 0.7622 0.9871 0.8487 0.88 0.8 0.79 0.98 0.8736 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.492881 NA NA 0.896512 0.977077 NA 0.572 NA 1.848188 1467 14 21624197 21624197 T C upstream OR5AU1 NA NA NA UTR5 ENSG00000169327 ENST00000304418:c.-13A>G NA NA NA NA 14q11.2 NA NA NA NA rs10135366 0.56 0.56 0.52 0.561502 0.7316 0.4325 0.6527 0.3351 0.7607 0.73 0.41 0.7 0.38 0.6654 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601612 NA NA 0.754884 0.406718 NA 0.572 NA 1.848116 1467 8 144332012 144332012 T C UTR5 ZFP41 NM_001271156:c.-2T>C,NM_173832:c.-2T>C NA NA UTR5 ENSG00000181638,ENSG00000264668 ENST00000520584:c.-2T>C,ENST00000330701:c.-2T>C;ENST00000522452:c.-2T>C NA NA NA NA 8q24.3 NA NA NA NA rs6558339 0.85 0.85 0.862 0.86881 0.83 0.8482 0.8934 0.8593 0.9254 0.82 0.87 0.88 0.87 0.8451 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373966 NA NA 0.810305 0.855878 NA 0.891 NA 1.8479284 1467 19 14867186 14867186 G A intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs2524386 0.76 0.76 0.751 0.79353 0.7187 0.8214 0.6499 0.8563 0.8589 0.73 0.78 0.65 0.85 0.7327 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032094 NA NA 0.702326 0.839537 NA 0.717 NA 1.846274 1467 20 2644407 2644407 C G intronic IDH3B NA NA NA intronic ENSG00000101365 NA NA NA NA NA 20p13 NA NA NA NA rs2073193 0.63 0.63 0.628 0.613019 0.7425 0.623 0.7176 0.444 0.6237 0.74 0.64 0.7 0.42 0.6865 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495476 NA NA 0.725116 0.513164 NA 0.587 NA 1.845884 1467 2 79314094 79314094 G T intronic REG1B NA NA NA intronic ENSG00000172023 NA NA NA NA NA 2p12 NA NA NA NA rs6723688 0.67 0.67 0.647 0.666933 0.7247 0.6974 0.7824 0.6067 0.5757 0.72 0.66 0.73 0.57 0.6985 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846804 NA NA 0.731279 0.642079 NA 0.696 NA 1.845521 1468 11 106408071 106408071 C T intergenic AASDHPPT,GUCY1A2 dist=438652;dist=136667 NA NA intergenic ENSG00000255065,ENSG00000260512 dist=225553;dist=136667 NA NA NA NA 11q22.3 NA NA NA NA rs1791468 0.52 0.52 0.473 0.507588 0.4831 0.622 0.4755 0.4455 0.5215 0.48 0.63 0.47 0.47 0.5137 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155111 NA NA 0.493213 0.427835 NA 0.478 NA 1.8433204 1468 17 78081551 78081551 T C intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs2304845 0.6 0.6 0.566 0.601038 0.7515 0.5437 0.5403 0.5174 0.6616 0.74 0.57 0.54 0.48 0.6741 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153199 NA NA 0.731471 0.531421 NA 0.616 NA 1.842929 1468 19 51883727 51883727 G A intronic LIM2 NA NA NA intronic ENSG00000105370 NA NA NA NA NA 19q13.41 NA NA NA NA rs2547318 0.78 0.78 0.799 0.767372 0.7087 0.7123 0.7032 0.9818 0.6401 0.72 0.74 0.71 0.98 0.7312 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123845 NA NA 0.717674 0.942124 NA 0.826 NA 1.842426 1468 2 190611084 190611084 T C intronic ANKAR NA NA NA intronic ENSG00000151687 NA NA NA NA NA 2q32.2 NA NA NA NA rs13002216 0.6 0.6 0.578 0.573083 0.7286 0.7302 0.6974 0.1339 0.7566 0.75 0.72 0.68 0.18 0.6916 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.205075 3.205075 NA 0.73866 0.222172 NA 0.514 NA 1.84114 1468 17 67170736 67170736 A G intronic ABCA10 NA NA NA intronic ENSG00000154263 NA NA NA NA NA 17q24.3 NA NA NA NA rs740520 0.65 0.65 0.657 0.707668 0.7316 0.4742 0.7839 0.8427 0.6871 0.71 0.42 0.73 0.78 0.713 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661635 NA NA 0.715317 0.831967 NA 0.696 NA 1.840083 1468 7 107800953 107800953 A G intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs12670313 0.63 0.63 0.571 0.580671 0.7396 0.8373 0.7478 0.1619 0.6002 0.74 0.82 0.75 0.16 0.6824 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321655 NA NA 0.738488 0.281434 NA 0.514 NA 1.839512 1468 2 190640475 190640475 A G intronic ORMDL1 NA NA NA intronic ENSG00000128699 NA NA NA NA NA 2q32.2 NA NA NA NA rs3816196 0.61 0.61 0.597 0.583666 0.7286 0.7312 0.6988 0.1732 0.7556 0.75 0.72 0.68 0.24 0.6936 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467633 NA NA 0.738953 0.248071 NA 0.536 NA 1.838847 1468 14 58771632 58771632 A G intronic ARID4A NA NA NA intronic ENSG00000032219 NA NA NA NA NA 14q23.1 NA NA NA NA rs7155580 0.65 0.65 0.673 0.682308 0.7386 0.4097 0.6931 0.8389 0.6861 0.72 0.38 0.71 0.83 0.694 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.194995 2.194995 NA 0.730841 0.80495 ID=COSN164690;OCCURENCE=1(breast) 0.681 NA 1.836559 1468 6 31856070 31856070 G A intronic EHMT2 NA NA NA intronic ENSG00000204371 NA NA NA NA NA 6p21.33 NA NA NA NA rs486416 0.8 0.8 0.811 0.823682 0.7217 0.7758 0.8991 0.8888 0.8364 0.7 0.83 0.9 0.87 0.7691 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.179368 NA NA 0.67368 0.848143 NA 0.819 NA 1.83552 1468 17 78079509 78079509 T G intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs12452721 0.61 0.61 0.606 0.605631 0.7535 0.5437 0.5418 0.5234 0.6738 0.75 0.57 0.55 0.5 0.6758 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483425 NA NA 0.735233 0.540172 NA 0.645 NA 1.835467 1469 12 6635567 6635567 A T intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs7311174 0.79 0.79 0.789 0.799521 0.7127 0.7034 0.8256 0.9811 0.7239 0.72 0.71 0.81 0.98 0.7463 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.065192 NA NA 0.706744 0.939174 NA 0.819 NA 1.834256 1469 1 26648551 26648551 G C intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA NA 1p36.11 NA NA NA NA rs11247913 0.6 0.6 0.607 0.559704 0.7346 0.4405 0.5749 0.5537 0.5 0.72 0.45 0.6 0.58 0.6672 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926802 NA NA 0.764535 0.597367 NA 0.63 NA 1.833665 1469 15 86313048 86313048 T C UTR5 KLHL25 NM_022480:c.-7A>G NA NA UTR5 ENSG00000183655 ENST00000337975:c.-7A>G,ENST00000536947:c.-7A>G NA NA NA NA 15q25.3 NA NA NA NA rs2614657 0.8 0.8 0.798 0.799521 0.841 0.7698 0.7233 0.7769 0.8722 0.85 0.82 0.77 0.72 0.8282 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.030489 NA NA 0.830542 0.789545 NA 0.783 NA 1.8335914 1469 1 22313197 22313197 C A intronic CELA3B NA NA NA intronic ENSG00000219073 NA NA NA NA NA 1p36.12 NA NA NA NA rs34963341 0.59 0.59 0.607 0.61222 0.7525 0.373 0.5274 0.6437 0.7321 0.75 0.35 0.57 0.64 0.6759 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713752 NA NA 0.739715 0.654178 NA 0.58 NA 1.831885 1469 3 10258762 10258762 G C intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs2302860 0.55 0.55 0.549 0.519968 0.7435 0.1379 0.6744 0.6452 0.4049 0.76 0.16 0.69 0.61 0.6508 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79126 NA NA 0.774186 0.657739 ID=COSN166814;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.659 NA 1.831514 1469 9 123888242 123888242 G T intronic CNTRL NA NA NA intronic ENSG00000119397 NA NA NA NA NA 9q33.2 NA NA NA NA rs10760150 0.77 0.77 0.758 0.788738 0.7107 0.9663 0.7824 0.6135 0.9274 0.71 0.98 0.79 0.6 0.7528 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213312 NA NA 0.705397 0.621026 NA 0.703 NA 1.831103 1469 6 155574207 155574207 T C intronic TIAM2 NA NA NA intronic ENSG00000146426 NA NA NA NA NA 6q25.3 NA NA NA NA rs2274824 0.6 0.6 0.602 0.580471 0.7505 0.3462 0.4784 0.6936 0.5665 0.75 0.33 0.54 0.73 0.6743 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546132 NA NA 0.745814 0.682932 NA 0.717 NA 1.829386 1469 14 24718515 24718515 G A UTR3 TGM1 NM_000359:c.*4C>T NA NA UTR3 ENSG00000092295 ENST00000206765:c.*4C>T,ENST00000544573:c.*4C>T NA NA NA NA 14q12 NA NA NA NA rs2229463 0.73 0.73 0.732 0.716254 0.8529 0.5933 0.853 0.6853 0.6472 0.84 0.54 0.84 0.69 0.7913 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866864 NA NA 0.859767 0.698366 NA 0.739 NA 1.8293664 1469 1 204978533 204978533 A G intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs1530745 0.62 0.62 0.6 0.647564 0.7406 0.4573 0.549 0.6694 0.7883 0.74 0.41 0.64 0.66 0.6972 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289242 NA NA 0.7333 0.70605 NA 0.667 NA 1.8289 1469 2 31588288 31588288 T A intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs2365842 0.69 0.69 0.686 0.662141 0.7416 0.8284 0.6859 0.4274 0.7096 0.75 0.84 0.7 0.41 0.7093 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127945 NA NA 0.720349 0.460508 NA 0.696 NA 1.828751 1469 5 52366138 52366138 G A intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs2112290 0.69 0.69 0.677 0.685304 0.7296 0.4454 0.7695 0.7821 0.6963 0.73 0.49 0.76 0.81 0.7134 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184067 NA NA 0.72906 0.794825 NA 0.717 NA 1.82794 1469 5 16177807 16177807 A G intronic MARCH11 NA NA NA intronic ENSG00000183654 NA NA NA NA NA 5p15.1 NA NA NA NA rs2582666 0.72 0.72 0.692 0.644768 0.7326 0.9117 0.7406 0.3933 0.5511 0.75 0.93 0.73 0.42 0.7063 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921168 NA NA 0.733988 0.447107 NA 0.63 NA 1.827112 1469 10 129183015 129183015 T G intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs878562 0.77 0.77 0.789 0.769169 0.7227 0.7669 0.7536 0.8487 0.7229 0.73 0.77 0.78 0.84 0.7377 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510639 NA NA 0.712603 0.82953 NA 0.833 NA 1.826997 1469 2 233350000 233350000 C G intronic ECEL1 NA NA NA intronic ENSG00000171551 NA NA NA NA NA 2q37.1 NA NA NA NA rs2573246 0.68 0.68 0.66 0.673922 0.7276 0.7609 0.7536 0.4508 0.774 0.75 0.77 0.73 0.44 0.7211 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088111 NA NA 0.724535 0.497049 NA 0.674 NA 1.826765 1469 2 189866199 189866199 T A intronic COL3A1 NA NA NA intronic ENSG00000168542 NA NA NA NA NA 2q32.2 NA NA NA NA rs2271682 0.75 0.75 0.711 0.776358 0.7068 0.9315 0.7608 0.6785 0.8313 0.71 0.92 0.71 0.66 0.7587 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.102157 NA NA 0.707907 0.688379 NA 0.725 NA 1.826593 1469 21 34799350 34799350 C G intronic IFNGR2 NA NA NA intronic ENSG00000159128 NA NA NA NA NA 21q22.11 NA NA NA NA rs11910627 0.84 0.84 0.83 0.842252 0.7177 0.9861 0.8285 0.8707 0.7935 0.72 0.99 0.83 0.86 0.7642 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14174 NA NA 0.69186 0.86995 NA 0.768 NA 1.82624 1469 6 33641956 33641956 T C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs7769838 0.8 0.8 0.797 0.830072 0.7028 0.9772 0.7853 0.7776 0.9121 0.7 0.97 0.78 0.78 0.7728 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860855 NA NA 0.698372 0.767136 NA 0.833 NA 1.826028 1470 15 42059521 42059521 A T UTR3 MGA NM_001164273:c.*43A>T,NM_001080541:c.*43A>T NA NA UTR3 ENSG00000174197 ENST00000545763:c.*43A>T,ENST00000389936:c.*43A>T,ENST00000219905:c.*43A>T,ENST00000566586:c.*43A>T,ENST00000570161:c.*43A>T NA NA NA NA 15q15.1 NA NA NA NA rs2605570 0.82 0.82 0.809 0.80611 0.841 0.8899 0.8473 0.6732 0.8344 0.85 0.88 0.84 0.67 0.8312 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504567 NA NA 0.836226 0.693382 NA 0.71 NA 1.8249074 1470 17 1679805 1679805 A G intronic SERPINF1 NA NA NA intronic ENSG00000132386 NA NA NA NA NA 17p13.3 NA NA NA NA rs2071022 0.79 0.79 0.823 0.776957 0.7386 0.7768 0.7565 0.9198 0.638 0.76 0.78 0.71 0.92 0.7294 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015305 NA NA 0.707907 0.888788 NA 0.732 NA 1.824093 1470 13 109459020 109459020 G A intronic MYO16 NA NA NA intronic ENSG00000041515 NA NA NA NA NA 13q33.3 NA NA NA NA rs9301323 0.67 0.67 0.63 0.642971 0.7455 0.7857 0.7464 0.3351 0.7331 0.75 0.81 0.76 0.32 0.7168 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.191823 NA NA 0.714651 0.395143 NA 0.522 NA 1.823049 1470 17 1684772 1684772 T C intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA NA NA rs7224977 0.79 0.79 0.809 0.776558 0.7386 0.7758 0.755 0.9198 0.638 0.76 0.78 0.7 0.92 0.731 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571975 NA NA 0.707442 0.890831 NA 0.746 NA 1.822958 1470 4 2829077 2829077 T C intronic SH3BP2 NA NA NA intronic ENSG00000087266 NA NA NA NA NA 4p16.3 NA NA NA NA rs2269485 0.72 0.72 0.731 0.776757 0.7137 0.5526 0.8055 0.9448 0.8252 0.71 0.53 0.75 0.94 0.7481 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075377 NA NA 0.716512 0.908534 NA 0.739 NA 1.821688 1470 12 104124061 104124061 A G intronic STAB2 NA NA NA intronic ENSG00000136011 NA NA NA NA NA 12q23.3 NA NA NA NA rs4981042 0.86 0.86 0.864 0.864018 0.7227 0.9752 0.7723 0.9796 0.8037 0.72 0.98 0.79 0.98 0.7653 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875388 NA NA 0.690465 0.92079 NA 0.884 NA 1.821535 1470 11 129743012 129743012 A G intronic NFRKB NA NA NA intronic ENSG00000170322 NA NA NA NA NA 11q24.3 NA NA NA NA rs1650826 0.74 0.74 0.769 0.750599 0.7097 0.6548 0.6873 0.9387 0.682 0.72 0.64 0.71 0.91 0.7542 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.798489 1.798489 NA 0.714935 0.907805 NA 0.812 NA 1.821165 1470 2 242149073 242149073 G A intronic ANO7 NA NA NA intronic ENSG00000146205 NA NA NA NA NA 2q37.3 NA NA NA NA rs10192730 0.73 0.73 0.747 0.717452 0.7266 0.4692 0.8602 0.9803 0.5072 0.72 0.47 0.84 0.95 0.7236 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.535528 NA NA 0.728711 0.94099 NA 0.717 NA 1.821089 1470 17 1687796 1687796 A G intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA NA NA rs3815612 0.8 0.8 0.81 0.778155 0.7396 0.7768 0.7565 0.9251 0.636 0.76 0.78 0.7 0.93 0.7309 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157744 NA NA 0.709186 0.894916 NA 0.761 NA 1.820314 1470 14 94931016 94931016 T G intronic SERPINA9 NA NA NA ncRNA_exonic ENSG00000256357 NA NA NA NA NA 14q32.13 NA NA NA NA rs8020984 0.8 0.8 0.772 0.8123 0.8569 0.6468 0.7867 0.8661 0.8824 0.86 0.66 0.78 0.86 0.8177 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284661 NA NA 0.838765 0.84153 NA 0.862 NA 1.8199683 1470 14 22337119 22337119 G C intergenic OR4E2,DAD1 dist=202881;dist=696688 NA NA intronic ENSG00000211788 NA NA NA NA NA 14q11.2 NA NA NA NA rs909075 0.68 0.68 0.678 0.689097 0.5994 0.7629 0.6268 0.7352 0.6871 0.61 0.76 0.63 0.75 0.6402 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376809 NA NA 0.607905 0.705821 NA 0.754 NA 1.8191617 1470 11 68476011 68476011 A G intronic MTL5 NA NA NA intronic ENSG00000132749 NA NA NA NA NA 11q13.3 NA NA NA NA rs4930597 0.71 0.71 0.686 0.715455 0.7336 0.8611 0.7378 0.5416 0.7658 0.74 0.85 0.68 0.53 0.7439 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.004164 NA NA 0.703656 0.568182 NA 0.681 NA 1.818844 1470 20 47852822 47852822 G A intronic DDX27 NA NA NA intronic ENSG00000124228 NA NA NA NA NA 20q13.13 NA NA NA NA rs238152 0.61 0.61 0.602 0.561502 0.7515 0.4593 0.611 0.5076 0.5092 0.75 0.43 0.65 0.57 0.6756 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853086 NA NA 0.754419 0.541534 NA 0.609 NA 1.818481 1470 13 24869048 24869048 T C intronic SPATA13 NA NA NA intronic ENSG00000182957 NA NA NA NA NA 13q12.12 NA NA NA NA rs9553233 0.75 0.75 0.753 0.753794 0.7207 0.9216 0.6585 0.7042 0.7495 0.7 0.93 0.67 0.68 0.7268 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405259 NA NA 0.735814 0.696096 NA 0.797 NA 1.816686 1470 6 42036395 42036395 A C intronic TAF8 NA NA NA intronic ENSG00000137413 NA NA NA NA NA 6p21.1 NA NA NA NA rs2492926 0.76 0.76 0.743 0.744409 0.7008 0.8185 0.7421 0.8162 0.6176 0.7 0.83 0.77 0.79 0.7394 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111253 NA NA 0.743182 0.801435 NA 0.652 NA 1.816618 1470 12 69980028 69980028 G A intronic CCT2 NA NA NA intronic ENSG00000166226 NA NA NA NA NA 12q15 NA NA NA NA rs485288 0.78 0.78 0.787 0.775559 0.7286 0.8948 0.7882 0.6543 0.8558 0.73 0.92 0.79 0.69 0.7488 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032206 NA NA 0.707093 0.682478 NA 0.732 NA 1.815507 1470 19 57865082 57865082 T C intronic ZNF304 NA NA NA intronic ENSG00000131845 NA NA NA NA NA 19q13.43 NA NA NA NA rs862703 0.75 0.75 0.737 0.755791 0.7107 0.9415 0.7464 0.5287 0.9243 0.72 0.94 0.74 0.58 0.7573 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084244 NA NA 0.71686 0.588289 NA 0.79 NA 1.81514 1470 15 42820451 42820451 C T intronic SNAP23 NA NA NA intronic ENSG00000092531 NA NA NA NA NA 15q15.2 NA NA NA NA rs9302112 0.59 0.59 0.535 0.522165 0.7644 0.7857 0.5173 0.0575 0.6329 0.78 0.79 0.57 0.08 0.676 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137095 NA NA 0.744592 0.176123 NA 0.514 NA 1.815008 1471 5 52344610 52344610 A G intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs1421933 0.71 0.71 0.684 0.702276 0.7326 0.506 0.7709 0.7837 0.7147 0.73 0.56 0.76 0.81 0.7213 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616646 NA NA 0.731279 0.795733 NA 0.739 NA 1.814821 1471 17 74019572 74019572 T C intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2257388 0.73 0.73 0.79 0.829473 0.7028 0.8413 0.7392 0.9675 0.8252 0.65 0.76 0.66 0.85 0.7636 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042388 NA NA 0.726141 0.931984 NA 0.819 NA 1.807459 1471 1 157802979 157802979 C T intronic CD5L NA NA NA intronic ENSG00000073754 NA NA NA NA NA 1q23.1 NA NA NA NA rs2261295 0.77 0.77 0.768 0.803914 0.7197 0.8095 0.7622 0.8427 0.862 0.72 0.81 0.72 0.85 0.7568 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15665 NA NA 0.716047 0.796187 NA 0.862 NA 1.807453 1471 15 49867323 49867323 G A intronic FAM227B NA NA NA intronic ENSG00000166262 NA NA NA NA NA 15q21.2 NA NA NA NA rs12902107 0.76 0.76 0.723 0.733626 0.7177 0.9375 0.8098 0.5893 0.681 0.72 0.93 0.79 0.6 0.7367 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993365 NA NA 0.738411 0.617031 NA 0.681 NA 1.807189 1471 6 44270768 44270768 G T intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA NA NA NA rs325002 0.61 0.61 0.587 0.584265 0.7256 0.4266 0.7666 0.4697 0.6268 0.73 0.44 0.79 0.49 0.7033 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276541 NA NA 0.764419 0.521335 NA 0.667 NA 1.806681 1472 4 6377530 6377530 C G intronic PPP2R2C NA NA NA intronic ENSG00000074211 NA NA NA NA NA 4p16.1 NA NA NA NA rs4688997 0.75 0.75 0.699 0.71905 0.7356 0.9881 0.7767 0.4501 0.7474 0.74 0.99 0.75 0.47 0.7448 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.425448 NA NA 0.71686 0.496369 NA 0.739 NA 1.80274 1472 6 31097453 31097453 T G intronic PSORS1C1 NA NA NA intronic ENSG00000204540 NA NA NA NA NA 6p21.33 NA NA NA NA rs3130560 0.79 0.79 0.802 0.821086 0.7227 0.8849 0.7565 0.8767 0.8272 0.72 0.87 0.72 0.87 0.7477 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.99598 NA NA 0.727021 0.85043 NA 0.833 NA 1.802579 1472 3 46967040 46967040 G A intronic CCDC12 NA NA NA intronic ENSG00000160799 NA NA NA NA NA 3p21.31 NA NA NA NA rs2290545 0.71 0.71 0.716 0.701677 0.7376 0.4563 0.7233 0.8949 0.6411 0.74 0.49 0.73 0.91 0.7212 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421196 NA NA 0.738837 0.86246 ID=COSN166866;OCCURENCE=1(stomach),31(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(liver),13(lung) 0.804 NA 1.802363 1472 11 103013954 103013954 G T intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs2514006 0.69 0.69 0.641 0.68131 0.7386 0.7827 0.7565 0.4682 0.7526 0.73 0.78 0.75 0.49 0.7317 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.505177 NA NA 0.72966 0.515686 ID=COSN164036;OCCURENCE=1(breast) 0.739 NA 1.80004 1472 6 89814830 89814830 A G intronic SRSF12 NA NA NA intronic ENSG00000154548 NA NA NA NA NA 6q15 NA NA NA NA rs7753709 0.76 0.76 0.759 0.76877 0.7247 0.8304 0.7248 0.77 0.7802 0.73 0.81 0.71 0.76 0.7497 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012447 NA NA 0.727306 0.725673 NA 0.761 NA 1.798294 1472 9 131600111 131600111 T C intronic CCBL1 NA NA NA intronic ENSG00000171097 NA NA NA NA NA 9q34.11 NA NA NA NA rs2280841 0.67 0.67 0.619 0.599441 0.7445 0.7331 0.7853 0.2935 0.5941 0.79 0.75 0.77 0.33 0.708 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759657 NA NA 0.74928 0.380413 NA 0.652 NA 1.79822 1472 14 20767618 20767618 G A intronic TTC5 NA NA NA intronic ENSG00000136319 NA NA NA NA NA 14q11.2 NA NA NA NA rs2318864 0.77 0.77 0.768 0.729433 0.7406 0.7907 0.8559 0.7874 0.4867 0.75 0.8 0.83 0.75 0.7278 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.959037 1.959037 NA 0.733953 0.785747 NA 0.732 NA 1.797647 1472 12 7638020 7638020 G A intronic CD163 NA NA NA intronic ENSG00000177575 NA NA NA NA NA 12p13.31 NA NA NA NA rs10743939 0.51 0.51 0.461 0.478235 0.7704 0.38 0.7075 0.1241 0.5951 0.76 0.38 0.7 0.13 0.6714 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391876 NA NA 0.760814 0.222424 NA 0.5 NA 1.797386 1472 8 39525750 39525750 C A intronic ADAM18 NA NA NA intronic ENSG00000168619 NA NA NA NA NA 8p11.22 NA NA NA NA rs2305392 0.6 0.6 0.585 0.624601 0.7475 0.245 0.6686 0.7466 0.6933 0.75 0.26 0.69 0.72 0.6938 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451896 NA NA 0.761395 0.766682 NA 0.645 NA 1.797305 1472 3 88188420 88188420 G A UTR5 ZNF654 NM_018293:c.-41G>A NA NA UTR5 ENSG00000175105 ENST00000309495:c.-41G>A NA NA NA NA 3p11.1 NA NA NA NA rs9813894 0.79 0.79 0.778 0.783347 0.8429 0.8363 0.8516 0.5703 0.907 0.83 0.86 0.87 0.59 0.8381 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377526 NA NA 0.855058 0.634737 NA 0.674 NA 1.7972754 1472 7 16650427 16650427 C G intronic ANKMY2 NA NA NA intronic ENSG00000106524 NA NA NA NA NA 7p21.1 NA NA NA NA rs572570 0.8 0.8 0.782 0.770168 0.7555 0.8264 0.8084 0.8245 0.6268 0.75 0.84 0.82 0.79 0.7322 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065982 NA NA 0.715565 0.820926 NA 0.652 NA 1.796735 1472 17 10553046 10553046 A G intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs1989810 0.54 0.54 0.535 0.525759 0.7893 0.3849 0.549 0.379 0.5818 0.78 0.37 0.54 0.37 0.6505 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109184 NA NA 0.763488 0.43123 NA 0.659 NA 1.796712 1472 13 113889474 113889474 C T intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs2287250 0.61 0.61 0.623 0.573283 0.7634 0.4514 0.5663 0.5514 0.5378 0.75 0.46 0.59 0.58 0.6738 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551846 NA NA 0.766512 0.581934 NA 0.616 NA 1.796288 1473 12 69980141 69980141 G C intronic CCT2 NA NA NA intronic ENSG00000166226 NA NA NA NA NA 12q15 NA NA NA NA rs484319 0.84 0.84 0.864 0.853435 0.7306 0.8958 0.8199 0.9297 0.8569 0.73 0.92 0.83 0.93 0.7685 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854558 NA NA 0.708023 0.88266 NA 0.826 NA 1.792877 1473 8 95677132 95677132 T C intronic ESRP1 NA NA NA intronic ENSG00000104413 NA NA NA NA NA 8q22.1 NA NA NA NA rs1426171 0.73 0.73 0.726 0.718051 0.7366 0.7619 0.7406 0.5968 0.8016 0.75 0.79 0.75 0.61 0.7361 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388873 NA NA 0.734644 0.612948 NA 0.761 NA 1.792656 1473 15 27890491 27890491 G T intergenic GABRG3,OCA2 dist=112118;dist=109532 NA NA intergenic ENSG00000258594,ENSG00000258853 dist=16056;dist=39153 NA NA NA NA 15q12 NA NA NA NA rs1871017 0.55 0.55 0.557 0.576677 0.5179 0.7768 0.5216 0.444 0.6493 0.52 0.76 0.46 0.43 0.5316 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140118 NA NA 0.491462 0.430365 NA 0.565 NA 1.7923714 1473 3 9841989 9841989 A G intronic ARPC4,ARPC4-TTLL3 NA NA NA intronic ENSG00000241553,ENSG00000250151 NA NA NA NA NA 3p25.3 NA NA NA NA rs6443266 0.67 0.67 0.679 0.655351 0.7734 0.6964 0.621 0.5121 0.7096 0.78 0.69 0.67 0.49 0.7043 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69274 NA NA 0.732359 0.575412 NA 0.696 NA 1.789941 1473 11 103033914 103033914 A T intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs657936 0.71 0.71 0.681 0.697284 0.7366 0.7857 0.755 0.5393 0.7382 0.74 0.78 0.74 0.57 0.7368 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416408 NA NA 0.736703 0.592372 NA 0.725 NA 1.789897 1473 19 19758190 19758190 T C intronic ATP13A1 NA NA NA intronic ENSG00000105726 NA NA NA NA NA 19p13.11 NA NA NA NA rs892035 0.76 0.76 0.747 0.792332 0.7266 0.622 0.8156 0.9175 0.8497 0.73 0.63 0.8 0.92 0.7613 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774771 NA NA 0.724419 0.877894 NA 0.732 NA 1.787681 1473 2 160663678 160663678 T C intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs7566887 0.64 0.64 0.65 0.605631 0.7664 0.3948 0.755 0.59 0.5726 0.78 0.42 0.75 0.61 0.6949 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.107474 NA NA 0.751047 0.579437 NA 0.623 NA 1.787653 1473 15 28116275 28116275 G C intronic OCA2 NA NA NA intronic ENSG00000104044 NA NA NA NA NA 15q13.1 NA NA NA NA rs7175046 0.86 0.86 0.861 0.88778 0.7296 1 0.7824 0.9607 0.911 0.71 1 0.81 0.96 0.7778 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04755 NA NA 0.705349 0.920563 NA 0.884 NA 1.787251 1473 11 397706 397706 T C intronic PKP3 NA NA NA intronic ENSG00000184363 NA NA NA NA NA 11p15.5 NA NA NA NA rs9795298 0.85 0.85 0.851 0.896765 0.7177 0.998 0.7565 0.9803 0.9632 0.71 1 0.74 0.97 0.7825 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050923 NA NA 0.713319 0.940009 NA 0.754 NA 1.786481 1473 17 2196150 2196150 C T intronic SMG6 NA NA NA intronic ENSG00000070366 NA NA NA NA NA 17p13.3 NA NA NA NA rs216205 0.74 0.74 0.726 0.757788 0.7127 0.7768 0.7709 0.7678 0.7618 0.7 0.79 0.77 0.72 0.7541 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.014732 NA NA 0.747326 0.761008 NA 0.725 NA 1.785874 1473 5 61826663 61826663 G T intronic IPO11 NA NA NA intronic ENSG00000086200 NA NA NA NA NA 5q12.1 NA NA NA NA rs32179 0.8 0.8 0.802 0.845847 0.7068 0.8105 0.8602 0.9818 0.8313 0.69 0.79 0.81 0.98 0.7756 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06067 NA NA 0.73213 0.948636 NA 0.848 NA 1.78547 1474 1 175116252 175116252 C G UTR3 TNN NM_022093:c.*45C>G NA NA UTR3 ENSG00000120332 ENST00000239462:c.*45C>G NA NA NA NA 1q25.1 NA NA NA NA rs4651335 0.87 0.87 0.87 0.851038 0.8459 0.7331 0.9049 0.9947 0.7454 0.86 0.74 0.89 0.99 0.8533 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195963 NA NA 0.849302 0.963232 NA 0.92 NA 1.7848314 1474 1 1021415 1021415 A G intronic C1orf159 NA NA NA intronic ENSG00000131591 NA NA NA NA NA 1p36.33 NA NA NA NA rs3737728 0.8 0.8 0.778 0.8127 0.7386 0.9177 0.8055 0.8109 0.7883 0.72 0.91 0.78 0.79 0.7559 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958726 NA NA 0.721731 0.775682 NA 0.746 NA 1.783769 1474 22 31600460 31600460 T C intronic RNF185 NA NA NA intronic ENSG00000138942 NA NA NA NA NA 22q12.2 NA NA NA NA rs2413035 0.83 0.83 0.856 0.846246 0.7276 0.8819 0.7478 0.9849 0.8139 0.72 0.88 0.76 0.98 0.7642 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601563 NA NA 0.724767 0.945075 NA 0.833 NA 1.783433 1474 17 79077957 79077957 T C intronic BAIAP2 NA NA NA intronic ENSG00000175866 NA NA NA NA NA 17q25.3 NA NA NA NA rs34057293 0.78 0.78 0.769 0.800319 0.7147 0.8641 0.8415 0.7678 0.8374 0.71 0.85 0.83 0.78 0.7664 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388445 NA NA 0.736854 0.752615 NA 0.775 NA 1.782046 1474 9 117836188 117836188 A G intronic TNC NA NA NA intronic ENSG00000041982 NA NA NA NA NA 9q33.1 NA NA NA NA rs2210108 0.73 0.73 0.726 0.744409 0.7575 0.5635 0.7334 0.9425 0.6575 0.76 0.55 0.71 0.93 0.7255 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596987 NA NA 0.735233 0.909669 NA 0.717 NA 1.781767 1474 3 14939198 14939198 G A intronic FGD5 NA NA NA intronic ENSG00000154783 NA NA NA NA NA 3p25.1 NA NA NA NA rs2117775 0.71 0.71 0.702 0.714856 0.7376 0.5952 0.7017 0.8548 0.635 0.74 0.56 0.71 0.83 0.7263 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88974 NA NA 0.754492 0.835257 NA 0.775 NA 1.781608 1474 1 207014472 207014472 A C intronic IL19 NA NA NA intronic ENSG00000142224 NA NA NA NA NA 1q32.1 NA NA NA NA rs2243188 0.62 0.62 0.599 0.613818 0.7594 0.4058 0.6455 0.5582 0.7311 0.77 0.37 0.69 0.62 0.692 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325591 NA NA 0.767442 0.608261 NA 0.601 NA 1.781158 1474 8 95186295 95186295 T C intronic CDH17 NA NA NA intronic ENSG00000079112 NA NA NA NA NA 8q22.1 NA NA NA NA rs2514813 0.67 0.67 0.689 0.679912 0.7555 0.369 0.6081 0.9433 0.6176 0.75 0.37 0.62 0.93 0.6959 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546845 NA NA 0.768372 0.908988 ID=COSN168373;OCCURENCE=1(large_intestine) 0.819 NA 1.780228 1474 16 74504005 74504005 T C intronic GLG1 NA NA NA intronic ENSG00000090863 NA NA NA NA NA 16q23.1 NA NA NA NA rs2303279 0.73 0.73 0.73 0.673522 0.7614 0.6776 0.5764 0.8109 0.4622 0.76 0.66 0.62 0.83 0.6928 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924452 NA NA 0.76593 0.816879 NA 0.739 NA 1.77987 1474 1 89478854 89478854 C G intronic GBP3 NA NA NA intronic ENSG00000117226 NA NA NA NA NA 1p22.2 NA NA NA NA rs4656076 0.56 0.56 0.525 0.547324 0.7604 0.5268 0.5576 0.2534 0.7393 0.76 0.51 0.64 0.25 0.6895 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192952 NA NA 0.770814 0.371085 NA 0.529 NA 1.779286 1474 6 152793412 152793412 C A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs4523096 0.85 0.85 0.863 0.855232 0.7525 0.9494 0.7104 0.9871 0.7883 0.76 0.95 0.72 0.98 0.7657 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241386 NA NA 0.704419 0.93645 NA 0.797 NA 1.777381 1474 9 139804346 139804346 C T intronic TRAF2 NA NA NA intronic ENSG00000127191 NA NA NA NA NA 9q34.3 NA NA NA NA rs4448378 0.77 0.77 0.806 0.780152 0.7416 0.88 0.5548 0.829 0.8108 0.74 0.89 0.59 0.81 0.7444 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735493 NA NA 0.736628 0.812074 NA 0.79 NA 1.777372 1474 6 32184705 32184705 G A intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA NA 6p21.32 NA NA NA NA rs3134798 0.78 0.78 0.809 0.824481 0.7256 0.9137 0.6902 0.8669 0.8722 0.71 0.9 0.69 0.84 0.7723 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12801 NA NA 0.72536 0.849107 NA 0.884 NA 1.77674 1474 2 223806194 223806194 C T intronic ACSL3 NA NA NA intronic ENSG00000123983 NA NA NA NA NA 2q36.1 NA NA NA NA rs1550426 0.87 0.87 0.747 0.898762 0.7893 0.9673 0.8847 0.9191 0.9233 0.77 0.97 0.86 0.91 0.7259 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.624724 NA NA 0.70876 0.873742 NA 0.326 NA 1.77604 1474 8 139617046 139617046 A C intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs12546923 0.62 0.62 0.584 0.559904 0.7644 0.6984 0.5605 0.2466 0.6299 0.77 0.68 0.6 0.31 0.684 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604222 NA NA 0.775581 0.347935 NA 0.514 NA 1.776019 1474 8 39505826 39505826 C A intronic ADAM18 NA NA NA intronic ENSG00000168619 NA NA NA NA NA 8p11.22 NA NA NA NA rs3735880 0.55 0.55 0.528 0.552915 0.7614 0.248 0.6499 0.4735 0.6912 0.76 0.26 0.67 0.46 0.6868 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146097 NA NA 0.776227 0.548138 NA 0.551 NA 1.775573 1475 7 31876766 31876766 T C intronic PDE1C NA NA NA intronic ENSG00000154678 NA NA NA NA NA 7p14.3 NA NA NA NA rs2270218 0.75 0.75 0.737 0.742812 0.7376 0.7669 0.719 0.7784 0.6922 0.75 0.73 0.69 0.82 0.7409 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54789 NA NA 0.746744 0.761916 NA 0.812 NA 1.774756 1475 7 7398457 7398457 T G intronic COL28A1 NA NA NA intronic ENSG00000215018 NA NA NA NA NA 7p21.3 NA NA NA NA rs2348042 0.66 0.66 0.634 0.639377 0.7604 0.873 0.7565 0.1762 0.817 0.77 0.87 0.75 0.2 0.7276 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669381 NA NA 0.737616 0.279146 NA 0.674 NA 1.774384 1475 7 2962753 2962753 G A intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs2527509 0.56 0.56 0.538 0.505391 0.7734 0.3849 0.5994 0.3048 0.5583 0.78 0.42 0.64 0.32 0.6795 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149185 NA NA 0.773701 0.363533 NA 0.609 NA 1.773399 1475 8 139620267 139620267 G A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs11166829 0.63 0.63 0.595 0.559704 0.7644 0.6984 0.5605 0.2466 0.6288 0.78 0.7 0.62 0.33 0.6857 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576091 NA NA 0.776512 0.3468 NA 0.514 NA 1.773388 1475 22 31685458 31685458 G A intronic PIK3IP1 NA NA NA intronic ENSG00000100100 NA NA NA NA NA 22q12.2 NA NA NA NA rs5753543 0.82 0.82 0.853 0.845048 0.7266 0.876 0.7478 0.9856 0.8139 0.71 0.87 0.76 0.98 0.7775 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704033 NA NA 0.724651 0.945075 NA 0.833 NA 1.771249 1475 14 104561998 104561998 T C intronic ASPG NA NA NA intronic ENSG00000166183 NA NA NA NA NA 14q32.33 NA NA NA NA rs1770983 0.8 0.8 0.775 0.814097 0.7266 0.8938 0.8429 0.7753 0.8538 0.74 0.89 0.82 0.77 0.7775 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459062 NA NA 0.725448 0.76155 NA 0.841 NA 1.770452 1475 13 113854715 113854715 C T intronic PCID2 NA NA NA intronic ENSG00000126226 NA NA NA NA NA 13q34 NA NA NA NA rs3751413 0.59 0.59 0.635 0.582268 0.7744 0.4544 0.6239 0.559 0.5184 0.72 0.44 0.6 0.53 0.6817 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596792 NA NA 0.77407 0.593282 NA 0.638 NA 1.76983 1475 17 37790371 37790371 G A intronic PPP1R1B NA NA NA intronic ENSG00000131771 NA NA NA NA NA 17q12 NA NA NA NA rs907094 0.55 0.55 0.557 0.515575 0.7753 0.4365 0.585 0.2156 0.6861 0.78 0.51 0.62 0.22 0.6924 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416887 NA NA 0.764651 0.2803 NA 0.594 NA 1.767649 1475 10 72181460 72181460 G T intronic EIF4EBP2 NA NA NA intronic ENSG00000148730 NA NA NA NA NA 10q22.1 NA NA NA NA rs3793809 0.8 0.8 0.803 0.806709 0.7336 0.9683 0.7925 0.6982 0.8722 0.74 0.96 0.78 0.71 0.7689 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071713 NA NA 0.730581 0.701089 NA 0.739 NA 1.766919 1475 10 91483908 91483908 G C intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA NA NA NA rs7079174 0.8 0.8 0.798 0.84984 0.7346 0.9355 0.804 0.8185 0.955 0.74 0.94 0.78 0.76 0.7858 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480465 NA NA 0.713216 0.818958 NA 0.732 NA 1.766384 1475 19 49300605 49300605 T C intronic BCAT2 NA NA NA intronic ENSG00000105552 NA NA NA NA NA 19q13.33 NA NA NA NA rs526744 0.73 0.73 0.709 0.729433 0.7425 0.5248 0.7997 0.8646 0.6943 0.75 0.57 0.79 0.85 0.7404 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633972 NA NA 0.751163 0.848162 NA 0.746 NA 1.765937 1475 20 47872327 47872327 A G intronic ZNFX1 NA NA NA intronic ENSG00000124201 NA NA NA NA NA 20q13.13 NA NA NA NA rs238220 0.65 0.65 0.643 0.607827 0.7634 0.5278 0.6427 0.5348 0.6043 0.75 0.52 0.67 0.61 0.7014 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660044 NA NA 0.769767 0.563777 NA 0.616 NA 1.765433 1476 9 123550027 123550027 G A intronic FBXW2 NA NA NA intronic ENSG00000119402 NA NA NA NA NA 9q33.2 NA NA NA NA rs7026635 0.73 0.73 0.719 0.755591 0.7425 0.5397 0.8487 0.8457 0.8037 0.75 0.55 0.83 0.82 0.7535 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614331 NA NA 0.740462 0.837911 NA 0.804 NA 1.763538 1476 11 48184983 48184983 G T intronic PTPRJ NA NA NA intronic ENSG00000149177 NA NA NA NA NA 11p11.2 NA NA NA NA rs2270990 0.72 0.72 0.593 0.719649 0.7485 0.7738 0.7997 0.5446 0.8139 0.77 0.78 0.8 0.54 0.7494 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139419 NA NA 0.742611 0.553612 NA 0.594 NA 1.759489 1476 12 47178307 47178307 A G intronic SLC38A4 NA NA NA intronic ENSG00000139209 NA NA NA NA NA 12q13.11 NA NA NA NA rs180430 0.58 0.58 0.561 0.576478 0.7843 0.499 0.634 0.3517 0.7055 0.77 0.5 0.63 0.36 0.6923 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.175066 NA NA 0.76407 0.420336 NA 0.587 NA 1.75933 1476 12 47173662 47173662 A G intronic SLC38A4 NA NA NA intronic ENSG00000139209 NA NA NA NA NA 12q13.11 NA NA NA NA rs180426 0.6 0.6 0.593 0.583866 0.7893 0.5575 0.6326 0.3381 0.6973 0.78 0.57 0.63 0.35 0.6915 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724787 NA NA 0.760698 0.409669 NA 0.58 NA 1.758502 1476 10 91522605 91522605 G C intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA NA NA NA rs3740038 0.8 0.8 0.816 0.849042 0.7346 0.9355 0.8055 0.8147 0.955 0.74 0.94 0.78 0.76 0.7949 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536658 NA NA 0.712209 0.815252 NA 0.797 NA 1.758291 1476 17 19213335 19213335 C G intronic EPN2 NA NA NA intronic ENSG00000072134 NA NA NA NA NA 17p11.2 NA NA NA NA rs2296981 0.44 0.44 0.42 0.364018 0.8121 0.0119 0.5231 0.2103 0.3609 0.81 0.01 0.6 0.24 0.6224 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112378 NA NA 0.807352 0.315479 NA 0.464 NA 1.758148 1476 19 19168183 19168183 C T intronic ARMC6 NA NA NA intronic ENSG00000105676 NA NA NA NA NA 19p13.11 NA NA NA NA rs7258637 0.74 0.74 0.738 0.73722 0.7624 0.881 0.7824 0.5658 0.7628 0.75 0.87 0.75 0.56 0.7418 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246716 NA NA 0.738023 0.585565 NA 0.572 NA 1.757777 1476 1 45486272 45486272 T C intronic ZSWIM5 NA NA NA intronic ENSG00000162415 NA NA NA NA NA 1p34.1 NA NA NA NA rs998418 0.67 0.67 0.663 0.648363 0.7813 0.7024 0.562 0.4766 0.7495 0.78 0.72 0.63 0.5 0.7093 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500885 NA NA 0.751668 0.532767 NA 0.551 NA 1.757732 1476 4 47898491 47898491 C T intronic NFXL1 NA NA NA intronic ENSG00000170448 NA NA NA NA NA 4p12 NA NA NA NA rs6447592 0.73 0.73 0.709 0.716653 0.7505 0.6875 0.7478 0.6551 0.773 0.77 0.72 0.75 0.65 0.7435 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024884 NA NA 0.748488 0.682025 NA 0.775 NA 1.757512 1476 20 3564772 3564772 T A intronic ATRN NA NA NA intronic ENSG00000088812 NA NA NA NA NA 20p13 NA NA NA NA rs170976 0.82 0.82 0.808 0.824481 0.7187 0.999 0.8141 0.7088 0.9172 0.74 1 0.81 0.75 0.7867 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472044 NA NA 0.737209 0.719246 NA 0.71 NA 1.757391 1476 10 127426588 127426588 C A intronic C10orf137 NA NA NA intronic ENSG00000107938 NA NA NA NA NA 10q26.13 NA NA NA NA rs3740180 0.74 0.74 0.736 0.73722 0.7505 0.8948 0.5331 0.674 0.7914 0.76 0.89 0.57 0.67 0.736 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035976 NA NA 0.757791 0.686564 NA 0.696 NA 1.755709 1476 4 47853843 47853843 T C intronic NFXL1 NA NA NA intronic ENSG00000170448 NA NA NA NA NA 4p12 NA NA NA NA rs6822668 0.73 0.73 0.704 0.716853 0.7505 0.6875 0.7478 0.6558 0.773 0.77 0.72 0.75 0.65 0.7448 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.418081 NA NA 0.749302 0.683015 NA 0.775 NA 1.755398 1476 3 10219729 10219729 A G intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs1681663 0.6 0.6 0.563 0.582668 0.7694 0.2192 0.6916 0.6286 0.6258 0.77 0.29 0.68 0.63 0.7007 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655429 NA NA 0.774651 0.654789 NA 0.572 NA 1.755249 1476 20 3565546 3565546 C G intronic ATRN NA NA NA intronic ENSG00000088812 NA NA NA NA NA 20p13 NA NA NA NA rs235538 0.82 0.82 0.808 0.824481 0.7187 0.999 0.8141 0.7088 0.9172 0.74 1 0.81 0.75 0.7878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220978 NA NA 0.738488 0.719473 NA 0.71 NA 1.755012 1477 19 50796960 50796960 C T intronic MYH14 NA NA NA intronic ENSG00000105357 NA NA NA NA NA 19q13.33 NA NA NA NA rs3745510 0.72 0.72 0.693 0.694489 0.7545 0.9246 0.7752 0.3752 0.7699 0.76 0.92 0.75 0.41 0.7496 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44476 NA NA 0.741785 0.397805 NA 0.594 NA 1.754115 1477 5 5235096 5235096 A G intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs2913631 0.74 0.74 0.699 0.714257 0.7396 0.8115 0.8271 0.5446 0.7372 0.74 0.82 0.83 0.57 0.7563 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714669 NA NA 0.752026 0.582237 NA 0.587 NA 1.752074 1477 1 33134774 33134774 A C intronic RBBP4 NA NA NA intronic ENSG00000162521 NA NA NA NA NA 1p35.1 NA NA NA NA rs359955 0.63 0.63 0.604 0.594249 0.7515 0.7679 0.6383 0.1914 0.7669 0.76 0.77 0.66 0.25 0.7301 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.028662 NA NA 0.76686 0.292329 NA 0.536 NA 1.75154 1477 7 55228053 55228053 A T intronic EGFR NA NA NA intronic ENSG00000146648 NA NA NA NA NA 7p11.2 NA NA NA NA rs1558544 0.76 0.76 0.735 0.773363 0.7445 0.997 0.8343 0.5129 0.8814 0.74 1 0.81 0.47 0.7697 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498247 NA NA 0.735102 0.52342 NA 0.783 NA 1.750698 1477 1 5939544 5939544 T G intronic NPHP4 NA NA NA UTR3 ENSG00000131697 ENST00000489180:c.*21A>C NA NA NA NA 1p36.31 NA NA NA NA rs11121915 0.83 0.83 0.868 0.834265 0.8151 0.8423 0.7522 0.969 0.7219 0.81 0.83 0.72 0.95 0.7983 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197696 NA NA 0.804119 0.930365 NA 0.848 NA 1.7491477 1477 22 50876077 50876077 T C intronic PPP6R2 NA NA NA intronic ENSG00000100239 NA NA NA NA NA 22q13.33 NA NA NA NA rs9306550 0.85 0.85 0.866 0.831669 0.7545 0.9593 0.8084 0.9289 0.6646 0.76 0.96 0.79 0.92 0.7698 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468829 NA NA 0.727093 0.897413 NA 0.739 NA 1.748607 1477 5 52235802 52235802 T G intronic ITGA1 NA NA NA ncRNA_intronic ENSG00000249899 NA NA NA NA NA 5q11.2 NA NA NA NA rs1904165 0.87 0.87 0.873 0.848842 0.8429 0.8899 0.9179 0.8434 0.771 0.85 0.88 0.9 0.87 0.8712 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035241 NA NA 0.871133 0.860354 NA 0.826 NA 1.7481003 1477 10 43659536 43659536 C T intronic CSGALNACT2 NA NA NA intronic ENSG00000169826 NA NA NA NA NA 10q11.21 NA NA NA NA rs2503865 0.67 0.67 0.657 0.668131 0.7634 0.3819 0.7522 0.8752 0.5256 0.76 0.37 0.78 0.81 0.7242 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141891 NA NA 0.764302 0.836813 NA 0.812 NA 1.748098 1477 2 160873270 160873270 A G intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs2667040 0.75 0.75 0.719 0.702676 0.7465 0.8552 0.7594 0.5983 0.6012 0.74 0.86 0.73 0.63 0.7466 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582768 NA NA 0.758897 0.629369 NA 0.717 NA 1.748003 1477 14 106452628 106452628 T G intergenic ADAM6,LINC00226 dist=14270;dist=291641 NA NA downstream ENSG00000211934 NA NA NA NA NA 14q32.33 NA NA NA NA rs7144717 0.57 0.57 0.542 0.619409 0.6083 0.745 0.5922 0.4539 0.7444 0.57 0.74 0.56 0.38 0.6302 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.008522 NA NA 0.515306 0.362194 NA 0.333 NA 1.746194 1477 13 28609825 28609825 A G intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs2491227 0.62 0.62 0.575 0.563099 0.7714 0.7351 0.7161 0.1944 0.5613 0.78 0.7 0.7 0.21 0.7014 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128656 NA NA 0.782093 0.29301 NA 0.428 NA 1.745107 1478 13 28609846 28609846 A T intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs2491228 0.62 0.62 0.583 0.563099 0.7714 0.7351 0.7161 0.1944 0.5613 0.78 0.7 0.7 0.21 0.7029 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236153 NA NA 0.782093 0.293463 NA 0.507 NA 1.743607 1478 21 45821794 45821794 C T intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs1785437 0.74 0.74 0.703 0.707867 0.7654 0.7639 0.7435 0.6543 0.638 0.76 0.77 0.76 0.66 0.7351 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551148 NA NA 0.756047 0.694281 NA 0.587 NA 1.743453 1478 12 105582245 105582245 A G intronic APPL2 NA NA NA intronic ENSG00000136044 NA NA NA NA NA 12q23.3 NA NA NA NA rs1196852 0.81 0.81 0.803 0.809704 0.7455 0.999 0.8069 0.6914 0.8425 0.74 1 0.82 0.68 0.7757 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778841 NA NA 0.735349 0.714934 NA 0.877 NA 1.743451 1478 4 74447510 74447510 A C intronic RASSF6 NA NA NA intronic ENSG00000169435 NA NA NA NA NA 4q13.3 NA NA NA NA rs1247671 0.78 0.78 0.767 0.767971 0.7416 0.8968 0.5591 0.7519 0.8323 0.75 0.91 0.64 0.77 0.7661 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923331 NA NA 0.74907 0.738311 NA 0.71 NA 1.74323 1478 21 45826462 45826462 C A intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs1618355 0.71 0.71 0.696 0.676518 0.7674 0.7629 0.7392 0.5363 0.6391 0.76 0.76 0.75 0.54 0.734 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116805 NA NA 0.755605 0.583943 NA 0.551 NA 1.742995 1478 21 34726127 34726127 T A intronic IFNAR1 NA NA NA intronic ENSG00000142166 NA NA NA NA NA 21q22.11 NA NA NA NA rs2856973 0.85 0.85 0.84 0.871206 0.7207 0.9911 0.866 0.888 0.8834 0.73 0.99 0.87 0.86 0.7978 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899638 NA NA 0.738948 0.863017 NA 0.746 NA 1.742552 1478 7 103175965 103175965 C T intronic RELN NA NA NA intronic ENSG00000189056 NA NA NA NA NA 7q22.1 NA NA NA NA rs362706 0.72 0.72 0.695 0.710264 0.7614 0.623 0.7478 0.7398 0.681 0.75 0.61 0.76 0.75 0.7396 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606827 NA NA 0.758721 0.753291 NA 0.797 NA 1.740279 1478 13 28607989 28607989 T G intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs2491223 0.63 0.63 0.583 0.578674 0.7734 0.7302 0.7248 0.2534 0.5583 0.78 0.7 0.71 0.26 0.7036 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274364 NA NA 0.783256 0.347935 NA 0.536 NA 1.739744 1478 4 5018702 5018702 G A intronic CYTL1 NA NA NA intronic ENSG00000170891 NA NA NA NA NA 4p16.2 NA NA NA NA rs11724788 0.71 0.71 0.677 0.673722 0.7793 0.9643 0.781 0.2602 0.7485 0.8 0.97 0.75 0.26 0.7372 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.352519 2.352519 NA 0.74593 0.340218 NA 0.688 NA 1.73757 1478 20 23807028 23807028 A C intronic CST2 NA NA NA intronic ENSG00000170369 NA NA NA NA NA 20p11.21 NA NA NA NA rs4407312 0.82 0.82 0.837 0.81849 0.7495 0.9375 0.719 0.8593 0.7822 0.75 0.93 0.73 0.85 0.7643 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494322 NA NA 0.748953 0.842488 NA 0.862 NA 1.737247 1478 10 64005711 64005711 C T intronic RTKN2 NA NA NA intronic ENSG00000182010 NA NA NA NA NA 10q21.2 NA NA NA NA rs3815999 0.77 0.77 0.764 0.717851 0.7515 0.8879 0.7983 0.6286 0.5716 0.76 0.9 0.78 0.61 0.7548 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347336 NA NA 0.758046 0.654789 NA 0.652 NA 1.735654 1479 5 479905 479905 A C intronic SLC9A3 NA NA NA ncRNA_exonic ENSG00000225138 NA NA NA NA NA 5p15.33 NA NA NA NA rs890986 0.79 0.79 0.786 0.792332 0.8728 0.5694 0.8084 0.9274 0.7454 0.87 0.54 0.83 0.91 0.8458 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316901 NA NA 0.883721 0.916402 NA 0.471 NA 1.7310123 1479 10 135371466 135371466 T C intronic SYCE1 NA NA NA intronic ENSG00000171772,ENSG00000203772 NA NA NA NA NA 10q26.3 NA NA NA NA rs2987792 0.55 0.55 0.513 0.509185 0.7684 0.5317 0.6369 0.1354 0.6339 0.77 0.54 0.63 0.18 0.705 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272088 NA NA 0.795698 0.224921 NA 0.464 NA 1.730902 1479 3 184045799 184045799 A G intronic EIF4G1 NA NA NA intronic ENSG00000114867,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs939317 0.79 0.79 0.811 0.786941 0.7535 0.7103 0.7911 0.9592 0.6646 0.76 0.72 0.77 0.95 0.7582 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871409 NA NA 0.757442 0.919201 NA 0.87 NA 1.730858 1479 16 50327456 50327456 C T intronic ADCY7 NA NA NA intronic ENSG00000121281 NA NA NA NA NA 16q12.1 NA NA NA NA rs2302713 0.6 0.6 0.611 0.5623 0.7903 0.1954 0.6282 0.7057 0.4652 0.79 0.19 0.67 0.75 0.676 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788118 NA NA 0.803721 0.715521 NA 0.681 NA 1.729979 1479 19 50909389 50909389 T G intronic POLD1 NA NA NA intronic ENSG00000062822 NA NA NA NA NA 19q13.33 NA NA NA NA rs1673041 0.7 0.7 0.697 0.704473 0.7704 0.3075 0.7983 0.9236 0.683 0.79 0.33 0.78 0.92 0.7349 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038694 NA NA 0.765465 0.899455 NA 0.746 NA 1.729235 1479 17 42268274 42268274 C T UTR3 TMUB2 NM_001076674:c.*42C>T,NM_024107:c.*42C>T,NM_177441:c.*42C>T NA NA UTR3 ENSG00000168591 ENST00000446571:c.*42C>T,ENST00000357984:c.*42C>T,ENST00000538716:c.*42C>T,ENST00000587989:c.*42C>T,ENST00000590235:c.*374C>T,ENST00000319511:c.*42C>T,ENST00000589785:c.*42C>T,ENST00000592825:c.*374C>T,ENST00000589184:c.*223C>T,ENST00000587326:c.*530C>T,ENST00000587172:c.*374C>T NA NA NA NA 17q21.31 NA NA NA NA rs757430 0.94 0.94 0.947 0.929113 0.8549 0.997 0.9323 0.9917 0.8487 0.87 1 0.91 0.99 0.8859 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.165301 2.165301 NA 0.864651 0.974807 NA 0.949 NA 1.7278824 1479 10 63982984 63982984 A G intronic RTKN2 NA NA NA intronic ENSG00000182010 NA NA NA NA NA 10q21.2 NA NA NA NA rs10740069 0.8 0.8 0.796 0.753994 0.7525 0.8988 0.8098 0.7549 0.5654 0.76 0.91 0.8 0.73 0.7622 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75582 NA NA 0.75838 0.7399 NA 0.667 NA 1.72692 1479 9 35101870 35101870 C G intronic STOML2 NA NA NA intronic ENSG00000165283 NA NA NA NA NA 9p13.3 NA NA NA NA rs693325 0.68 0.68 0.663 0.666134 0.7624 0.4583 0.8184 0.6165 0.7403 0.78 0.49 0.81 0.64 0.736 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.952353 NA NA 0.77593 0.641625 ID=COSN168538;OCCURENCE=1(large_intestine) 0.754 NA 1.72567 1479 9 27047246 27047246 T C intronic IFT74 NA NA NA intronic ENSG00000096872 NA NA NA NA NA 9p21.2 NA NA NA NA rs10812520 0.79 0.79 0.784 0.778155 0.7425 0.876 0.7867 0.7723 0.7157 0.73 0.89 0.79 0.78 0.7725 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.64724 NA NA 0.759922 0.773965 NA 0.812 NA 1.725078 1480 15 48720526 48720526 G C intronic FBN1 NA NA NA intronic ENSG00000166147 NA NA NA NA NA 15q21.1 NA NA NA NA rs363832 0.66 0.66 0.618 0.65595 0.7584 0.6508 0.7363 0.4221 0.8149 0.76 0.63 0.76 0.46 0.7404 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850883 NA NA 0.777118 0.485441 NA 0.71 NA 1.724082 1480 2 197171175 197171175 C T intronic HECW2 NA NA NA intronic ENSG00000138411 NA NA NA NA NA 2q32.3 NA NA NA NA rs4241189 0.77 0.77 0.754 0.7498 0.7634 0.9603 0.8012 0.5295 0.7802 0.76 0.95 0.76 0.57 0.7586 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633618 NA NA 0.754651 0.541761 NA 0.667 NA 1.723349 1480 3 194386881 194386881 A G intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs1675944 0.76 0.76 0.749 0.765575 0.7654 0.9395 0.745 0.5825 0.8487 0.77 0.93 0.73 0.57 0.7655 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557219 NA NA 0.746977 0.627099 NA 0.681 NA 1.722123 1480 3 194390713 194390713 C A intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs1675926 0.77 0.77 0.756 0.773562 0.7654 0.9395 0.7522 0.612 0.8446 0.77 0.93 0.74 0.59 0.7661 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412413 NA NA 0.746744 0.642079 NA 0.688 NA 1.721756 1480 10 134165291 134165291 C G intronic LRRC27 NA NA NA intronic ENSG00000148814 NA NA NA NA NA 10q26.3 NA NA NA NA rs2261222 0.8 0.8 0.789 0.800919 0.7535 0.8661 0.781 0.8207 0.7699 0.75 0.83 0.78 0.84 0.7737 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585756 NA NA 0.751397 0.804506 NA 0.493 NA 1.721403 1480 20 2618094 2618094 G A intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs6037181 0.77 0.77 0.76 0.778954 0.7515 0.8581 0.7983 0.6823 0.8425 0.75 0.86 0.81 0.67 0.7763 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217165 NA NA 0.750814 0.699955 NA 0.725 NA 1.721386 1480 21 45817620 45817620 T C intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs1785436 0.79 0.79 0.781 0.767173 0.7634 0.7946 0.8084 0.8207 0.6411 0.76 0.8 0.8 0.84 0.7587 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308761 NA NA 0.75664 0.816447 NA 0.674 NA 1.72126 1480 20 2616679 2616679 C G intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs2422808 0.77 0.77 0.781 0.778754 0.7515 0.8571 0.7983 0.6823 0.8425 0.75 0.86 0.81 0.67 0.777 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463322 NA NA 0.751047 0.700182 NA 0.732 NA 1.720453 1480 10 64000878 64000878 T G intronic RTKN2 NA NA NA intronic ENSG00000182010 NA NA NA NA NA 10q21.2 NA NA NA NA rs1368158 0.8 0.8 0.803 0.751597 0.7525 0.8879 0.8098 0.7542 0.5654 0.76 0.9 0.8 0.73 0.7676 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.188967 3.188967 NA 0.759748 0.740227 NA 0.674 NA 1.720152 1480 15 42363769 42363769 A G intronic PLA2G4D NA NA NA intronic ENSG00000159337 NA NA NA NA NA 15q15.1 NA NA NA NA rs1668589 0.67 0.67 0.645 0.640176 0.7644 0.5833 0.7939 0.5068 0.6421 0.77 0.58 0.81 0.54 0.7382 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.437132 2.437132 NA 0.777506 0.580118 NA 0.565 NA 1.719894 1480 4 169835048 169835048 C G intronic PALLD NA NA NA intronic ENSG00000129116,ENSG00000145439 NA NA NA NA NA 4q32.3 NA NA NA NA rs1532651 0.7 0.7 0.706 0.707069 0.7714 0.9643 0.7003 0.3949 0.8027 0.75 0.92 0.66 0.38 0.7567 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459113 NA NA 0.752442 0.448706 NA 0.623 NA 1.719458 1480 5 176733616 176733616 T C UTR3 MXD3,PRELID1 NM_001142935:c.*504A>G;NM_001271828:c.*45T>C,NM_013237:c.*45T>C NA NA UTR3 ENSG00000169230,ENSG00000213347 ENST00000303204:c.*45T>C,ENST00000504594:c.*331T>C,ENST00000503216:c.*45T>C;ENST00000427908:c.*504A>G NA NA NA NA 5q35.3 NA NA NA NA rs9834 0.78 0.78 0.764 0.780351 0.8877 0.4742 0.7983 0.9478 0.7464 0.89 0.47 0.82 0.95 0.8375 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868801 NA NA 0.889373 0.945958 NA 0.87 NA 1.7187604 1480 20 2616556 2616556 T C intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs910271 0.78 0.78 0.772 0.786542 0.7515 0.8571 0.7997 0.711 0.8425 0.75 0.86 0.81 0.71 0.7787 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.904666 1.904666 NA 0.751395 0.718566 NA 0.739 NA 1.718405 1480 4 169846255 169846255 T C intronic PALLD NA NA NA intronic ENSG00000129116,ENSG00000145439 NA NA NA NA NA 4q32.3 NA NA NA NA rs3733656 0.73 0.73 0.72 0.714457 0.7704 0.9643 0.7017 0.4236 0.8016 0.79 0.95 0.69 0.43 0.7599 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.91104 NA NA 0.752093 0.485701 NA 0.63 NA 1.717607 1480 17 5066305 5066305 A T intronic USP6 NA NA NA intronic ENSG00000129204 NA NA NA NA NA 17p13.2 NA NA NA NA rs2307138 0.61 0.61 0.598 0.577276 0.7763 0.3968 0.6974 0.674 0.3425 0.75 0.36 0.69 0.62 0.6994 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.23755 NA NA 0.80686 0.701089 NA 0.703 NA 1.71744 1480 7 107824678 107824678 A G intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs6970656 0.72 0.72 0.706 0.688698 0.7644 0.9554 0.7983 0.3457 0.7219 0.77 0.94 0.77 0.34 0.7487 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132289 NA NA 0.77 0.440082 NA 0.667 NA 1.7169 1480 19 1074252 1074252 T G intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA NA NA NA rs11084881 0.79 0.79 0.764 0.782947 0.7396 0.6478 0.8444 0.9463 0.7025 0.75 0.69 0.82 0.93 0.7834 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133588 NA NA 0.760526 0.912579 NA 0.79 NA 1.716474 1480 20 20071634 20071634 T C intronic C20orf26 NA NA NA intronic ENSG00000089101 NA NA NA NA NA 20p11.23 NA NA NA NA rs6046614 0.86 0.86 0.866 0.867412 0.7435 0.9881 0.8977 0.851 0.8712 0.75 0.99 0.88 0.86 0.8045 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944157 NA NA 0.736163 0.8468 NA 0.804 NA 1.715837 1481 7 107822396 107822396 G A intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs2142325 0.72 0.72 0.693 0.688299 0.7644 0.9554 0.7983 0.3442 0.7219 0.77 0.94 0.77 0.34 0.7517 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473774 NA NA 0.769651 0.439855 NA 0.667 NA 1.714249 1481 12 123647725 123647725 G C intronic MPHOSPH9 NA NA NA intronic ENSG00000051825 NA NA NA NA NA 12q24.31 NA NA NA NA rs1727296 0.68 0.68 0.631 0.633586 0.7684 0.9772 0.7262 0.1422 0.7393 0.77 0.97 0.72 0.17 0.7322 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755427 NA NA 0.785415 0.255223 NA 0.609 NA 1.713985 1481 10 72813306 72813306 G A intergenic PCBD1,UNC5B dist=164765;dist=158986 NA NA intergenic ENSG00000259267,ENSG00000107731 dist=97908;dist=159021 NA NA NA NA 10q22.1 NA NA NA NA rs10762420 0.54 0.54 0.526 0.545327 0.5408 0.6081 0.4784 0.553 0.5225 0.54 0.59 0.48 0.54 0.5331 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180166 NA NA 0.545706 0.560502 NA 0.493 NA 1.7137274 1481 17 37239671 37239671 A G intronic PLXDC1 NA NA NA ncRNA_intronic ENSG00000263818 NA NA NA NA NA 17q12 NA NA NA NA rs9891236 0.84 0.84 0.832 0.853834 0.8767 0.6558 0.9481 0.9955 0.7761 0.87 0.61 0.94 0.99 0.8606 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204735 NA NA 0.882326 0.970268 NA 0.884 NA 1.7137073 1481 11 116703640 116703640 G C UTR3 APOC3 NM_000040:c.*40G>C NA NA UTR3 ENSG00000110245 ENST00000227667:c.*40G>C,ENST00000375345:c.*40G>C NA NA NA NA 11q23.3 NA NA NA NA rs5128 0.81 0.81 0.804 0.765775 0.8757 0.6627 0.7709 0.8351 0.6616 0.88 0.65 0.84 0.86 0.8389 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.502553 1.502553 NA 0.905843 0.845525 NA 0.841 NA 1.7128904 1481 12 123651162 123651162 A G intronic MPHOSPH9 NA NA NA intronic ENSG00000051825 NA NA NA NA NA 12q24.31 NA NA NA NA rs1716167 0.68 0.68 0.635 0.633986 0.7684 0.9772 0.7262 0.1437 0.7393 0.77 0.98 0.72 0.17 0.7333 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342899 NA NA 0.785698 0.256015 NA 0.601 NA 1.712602 1481 7 107825108 107825108 T C intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs427909 0.72 0.72 0.699 0.688698 0.7644 0.9554 0.7983 0.3457 0.7219 0.77 0.94 0.77 0.34 0.755 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371215 NA NA 0.768864 0.441163 NA 0.667 NA 1.711736 1481 2 95945568 95945568 G A intronic PROM2 NA NA NA intronic ENSG00000155066 NA NA NA NA NA 2q11.1 NA NA NA NA rs7585914 0.78 0.78 0.772 0.786142 0.7594 0.6687 0.8631 0.8812 0.7515 0.75 0.68 0.89 0.87 0.7752 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.079794 NA NA 0.753721 0.848389 NA 0.797 NA 1.711679 1481 5 96127905 96127905 T C intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs27640 0.65 0.65 0.652 0.650759 0.7883 0.5456 0.7118 0.5825 0.6667 0.79 0.51 0.7 0.55 0.7203 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.665506 1.665506 NA 0.780116 0.603268 NA 0.681 NA 1.711284 1481 1 85128262 85128262 A G intronic SSX2IP NA NA NA intronic ENSG00000117155 NA NA NA NA NA 1p22.3 NA NA NA NA rs2911563 0.73 0.73 0.715 0.678115 0.7893 0.7202 0.6326 0.6309 0.6166 0.81 0.72 0.67 0.66 0.7289 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633619 NA NA 0.770591 0.646524 NA 0.688 NA 1.711209 1481 9 432330 432330 C G intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA NA NA rs7036567 0.75 0.75 0.733 0.714257 0.7724 0.9772 0.8127 0.4501 0.6708 0.78 0.98 0.79 0.43 0.7577 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297933 NA NA 0.759651 0.492737 NA 0.659 NA 1.710249 1481 9 35077441 35077441 T C intronic FANCG NA NA NA intronic ENSG00000221829 NA NA NA NA NA 9p13.3 NA NA NA NA rs554098 0.7 0.7 0.687 0.701478 0.7694 0.4534 0.8372 0.7368 0.7434 0.77 0.49 0.83 0.75 0.7459 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215347 NA NA 0.774884 0.736496 ID=COSN168536;OCCURENCE=1(large_intestine) 0.797 NA 1.709816 1481 1 109735504 109735504 T C intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA NA NA rs659659 0.75 0.75 0.729 0.741414 0.7565 0.998 0.8055 0.3593 0.9325 0.78 1 0.8 0.39 0.7835 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569177 NA NA 0.751512 0.412165 NA 0.768 NA 1.708488 1481 3 122843110 122843110 G T intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA NA NA 3q21.1 NA NA NA NA rs861375 0.63 0.63 0.61 0.600839 0.7833 0.5139 0.719 0.469 0.5971 0.77 0.51 0.75 0.48 0.7216 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302375 NA NA 0.787093 0.506809 NA 0.746 NA 1.708007 1481 4 47582387 47582387 A C intronic ATP10D NA NA NA intronic ENSG00000145246 NA NA NA NA NA 4p12 NA NA NA NA rs2351791 0.75 0.75 0.738 0.741613 0.7734 0.7073 0.7147 0.7595 0.7393 0.78 0.71 0.75 0.76 0.7609 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8047 NA NA 0.758023 0.764412 NA 0.761 NA 1.707677 1482 1 114641685 114641685 A G intronic SYT6 NA NA NA intronic ENSG00000134207 NA NA NA NA NA 1p13.2 NA NA NA NA rs2774285 0.83 0.83 0.851 0.857827 0.7396 0.9325 0.7392 0.9652 0.8415 0.74 0.94 0.69 0.95 0.7975 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318032 NA NA 0.758953 0.921698 NA 0.833 NA 1.703947 1482 12 123746357 123746357 C G intronic CDK2AP1 NA NA NA intronic ENSG00000111328 NA NA NA NA NA 12q24.31 NA NA NA NA rs4759416 0.68 0.68 0.641 0.650559 0.7684 0.998 0.7277 0.149 0.7945 0.76 1 0.72 0.17 0.7408 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.838983 1.838983 NA 0.786977 0.263277 NA 0.601 NA 1.703823 1482 6 7567970 7567970 C T intronic DSP NA NA NA intronic ENSG00000096696 NA NA NA NA NA 6p24.3 NA NA NA NA rs2076296 0.79 0.79 0.795 0.772764 0.7644 0.8006 0.7896 0.8222 0.6738 0.75 0.84 0.77 0.81 0.7586 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426589 NA NA 0.775233 0.795733 NA 0.754 NA 1.701767 1482 16 57998345 57998345 C T intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs3859043 0.73 0.73 0.682 0.701877 0.7634 0.8214 0.8314 0.4985 0.6984 0.77 0.83 0.83 0.47 0.7626 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098743 NA NA 0.772749 0.577952 NA 0.746 NA 1.701251 1482 1 33760743 33760743 T C intronic ZNF362 NA NA NA intronic ENSG00000160094 NA NA NA NA NA 1p35.1 NA NA NA NA rs4641276 0.82 0.82 0.821 0.817292 0.7584 0.7589 0.8357 0.9713 0.7168 0.77 0.76 0.83 0.95 0.7866 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056349 NA NA 0.755465 0.936677 NA 0.833 NA 1.699535 1482 17 4863410 4863410 A G intronic SPAG7 NA NA NA UTR3 ENSG00000091640 ENST00000575784:c.*21T>C NA NA NA NA 17p13.2 NA NA NA NA rs238224 0.74 0.74 0.727 0.702875 0.829 0.4702 0.8588 0.823 0.5399 0.83 0.48 0.86 0.84 0.7838 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658271 NA NA 0.854882 0.830495 NA 0.812 NA 1.6989847 1482 11 4185595 4185595 T G intergenic RRM1,LOC100506082 dist=25489;dist=22787 NA NA intergenic ENSG00000231548,ENSG00000254480 dist=17070;dist=22775 NA NA NA NA 11p15.4 NA NA NA NA rs979942 0.43 0.43 0.445 0.454473 0.5507 0.3075 0.3804 0.4266 0.5971 0.56 0.3 0.38 0.45 0.5288 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616544 NA NA 0.555304 0.470252 NA 0.312 NA 1.6985294 1482 10 15648243 15648243 C T intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs2282383 0.7 0.7 0.712 0.725439 0.7654 0.7659 0.6326 0.5893 0.8926 0.77 0.75 0.65 0.58 0.7501 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739835 NA NA 0.786512 0.620291 NA 0.79 NA 1.697988 1482 13 32758834 32758834 A G intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs798971 0.81 0.81 0.817 0.821685 0.7604 0.9762 0.7421 0.7579 0.8681 0.76 0.98 0.7 0.79 0.7885 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585589 NA NA 0.753112 0.779743 NA 0.862 NA 1.697988 1482 1 14149622 14149622 T C intronic PRDM2 NA NA NA intronic ENSG00000116731 NA NA NA NA NA 1p36.21 NA NA NA NA rs2697968 0.74 0.74 0.734 0.714657 0.7893 0.621 0.7723 0.7307 0.6718 0.8 0.64 0.79 0.75 0.751 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129382 NA NA 0.761725 0.727679 NA 0.768 NA 1.697975 1482 2 33623388 33623388 T C intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs624058 0.72 0.72 0.786 0.780751 0.7903 0.749 0.8069 0.9297 0.5838 0.69 0.7 0.73 0.76 0.7746 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521728 NA NA 0.737209 0.885384 NA NA NA 1.697891 1482 3 145838895 145838895 C T intronic PLOD2 NA NA NA intronic ENSG00000152952 NA NA NA NA NA 3q24 NA NA NA NA rs4681297 0.78 0.78 0.782 0.781749 0.7684 0.8353 0.7305 0.8185 0.727 0.76 0.83 0.74 0.8 0.7666 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166225 NA NA 0.767326 0.812301 NA 0.754 NA 1.697674 1482 2 33623387 33623387 A G intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs624060 0.71 0.71 0.786 0.780751 0.7903 0.749 0.8069 0.9297 0.5838 0.68 0.69 0.72 0.76 0.7747 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.129874 NA NA 0.738256 0.882887 NA NA NA 1.696744 1482 12 123694724 123694724 C T intronic MPHOSPH9 NA NA NA intronic ENSG00000051825 NA NA NA NA NA 12q24.31 NA NA NA NA rs2682434 0.69 0.69 0.641 0.651957 0.7714 0.998 0.732 0.152 0.7914 0.77 1 0.73 0.17 0.745 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.455415 NA NA 0.787558 0.268044 NA 0.609 NA 1.696042 1482 1 20972048 20972048 G A intronic PINK1 NA NA NA ncRNA_intronic ENSG00000117242 NA NA NA NA NA 1p36.12 NA NA NA NA rs3131713 0.83 0.83 0.82 0.820687 0.8956 0.8145 0.8026 0.7352 0.8783 0.89 0.82 0.84 0.73 0.8628 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726139 NA NA 0.879651 0.775079 NA 0.812 NA 1.6952823 1483 1 89520574 89520574 C A intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs10922554 0.7 0.7 0.705 0.71885 0.7694 0.5585 0.6153 0.7958 0.8016 0.77 0.54 0.68 0.78 0.7497 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154744 NA NA 0.788256 0.814344 NA 0.725 NA 1.692644 1483 1 220825523 220825523 A G intronic MARK1 NA NA NA intronic ENSG00000116141 NA NA NA NA NA 1q41 NA NA NA NA rs3737296 0.76 0.76 0.763 0.795128 0.7704 0.6518 0.6988 0.9841 0.7812 0.75 0.6 0.71 0.98 0.7643 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17022 NA NA 0.772907 0.946891 NA 0.717 NA 1.692393 1483 1 76344011 76344011 C A intronic MSH4 NA NA NA intronic ENSG00000057468 NA NA NA NA NA 1p31.1 NA NA NA NA rs1493367 0.8 0.8 0.79 0.792732 0.7515 0.9851 0.7781 0.6846 0.7935 0.77 0.99 0.76 0.66 0.7967 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.889151 NA NA 0.759419 0.705402 NA 0.725 NA 1.692381 1483 9 116958216 116958216 C T intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs2567711 0.68 0.68 0.671 0.703874 0.7753 0.504 0.7738 0.6815 0.817 0.79 0.47 0.8 0.68 0.7586 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800678 NA NA 0.775814 0.715842 NA 0.616 NA 1.690286 1483 15 63044637 63044637 A G intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs7176359 0.73 0.73 0.683 0.720847 0.7893 0.6825 0.8372 0.5711 0.8098 0.8 0.71 0.82 0.59 0.7568 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.083199 NA NA 0.76407 0.632547 NA 0.674 NA 1.68983 1483 10 115525175 115525175 T C intronic PLEKHS1 NA NA NA intronic ENSG00000148735 NA NA NA NA NA 10q25.3 NA NA NA NA rs4631835 0.67 0.67 0.647 0.650359 0.7942 0.5694 0.7608 0.5212 0.682 0.81 0.58 0.75 0.52 0.7415 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180348 NA NA 0.774987 0.553653 NA 0.63 NA 1.689313 1483 3 189712089 189712089 G A intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA NA NA NA rs1719599 0.68 0.68 0.75 0.760982 0.7694 0.9355 0.7781 0.6172 0.7546 0.67 0.85 0.7 0.49 0.7847 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.178773 NA NA 0.756628 0.582652 NA NA NA 1.689272 1483 1 20978832 20978832 T C UTR3 DDOST NM_005216:c.*40A>G NA NA UTR3 ENSG00000244038 ENST00000375048:c.*40A>G,ENST00000602624:c.*40A>G,ENST00000415136:c.*40A>G NA NA NA NA 1p36.12 NA NA NA NA rs6893 0.83 0.83 0.805 0.82488 0.8936 0.8274 0.804 0.7421 0.8783 0.89 0.83 0.84 0.75 0.8695 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817904 NA NA 0.881251 0.771344 NA 0.819 NA 1.6889824 1483 9 110086149 110086149 G A intronic RAD23B NA NA NA intronic ENSG00000119318 NA NA NA NA NA 9q31.2 NA NA NA NA rs1805334 0.77 0.77 0.804 0.803714 0.7823 0.7619 0.6441 0.9508 0.7832 0.75 0.77 0.69 0.83 0.7501 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529007 NA NA 0.778721 0.903636 NA 0.746 NA 1.688879 1483 12 21711111 21711111 G C intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA NA NA NA rs7977474 0.73 0.73 0.715 0.715655 0.7704 0.7629 0.7522 0.5492 0.8098 0.79 0.77 0.74 0.58 0.7661 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564269 NA NA 0.775 0.605311 NA 0.572 NA 1.6885 1483 1 204433093 204433093 A C intronic PIK3C2B NA NA NA intronic ENSG00000133056 NA NA NA NA NA 1q32.1 NA NA NA NA rs2271415 0.58 0.58 0.522 0.548922 0.7813 0.4236 0.8098 0.2474 0.6616 0.78 0.43 0.79 0.29 0.7149 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.053575 NA NA 0.81593 0.361552 NA 0.63 NA 1.68787 1483 22 41863423 41863423 A G intronic PHF5A NA NA NA intronic ENSG00000100410 NA NA NA NA NA 22q13.2 NA NA NA NA rs202631 0.77 0.77 0.777 0.741613 0.7783 0.9444 0.5303 0.7663 0.6115 0.78 0.94 0.52 0.72 0.7449 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.171556 NA NA 0.789186 0.772356 NA 0.681 NA 1.687614 1483 15 82431219 82431219 A G intronic EFTUD1 NA NA NA intronic ENSG00000140598 NA NA NA NA NA 15q25.2 NA NA NA NA rs2457497 0.82 0.82 0.8 0.784744 0.7555 0.8373 0.8458 0.8714 0.6002 0.74 0.83 0.82 0.9 0.779 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389886 NA NA 0.7793 0.852909 NA 0.797 NA 1.6862 1483 4 42003835 42003835 C G intronic SLC30A9 NA NA NA intronic ENSG00000014824 NA NA NA NA NA 4p13 NA NA NA NA rs2581453 0.7 0.7 0.658 0.65595 0.7763 0.9583 0.7997 0.1475 0.8057 0.79 0.96 0.78 0.17 0.7628 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437833 NA NA 0.775372 0.25 NA 0.558 NA 1.685528 1483 4 42024982 42024982 A G intronic SLC30A9 NA NA NA intronic ENSG00000014824 NA NA NA NA NA 4p13 NA NA NA NA rs13107768 0.71 0.71 0.658 0.667133 0.7763 0.9583 0.804 0.1884 0.8047 0.79 0.96 0.79 0.22 0.7628 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490931 NA NA 0.775413 0.282104 NA 0.558 NA 1.685487 1484 12 21712574 21712574 C T intronic GYS2 NA NA NA intronic ENSG00000111713 NA NA NA NA NA 12p12.1 NA NA NA NA rs1871137 0.75 0.75 0.738 0.740615 0.7704 0.7629 0.7579 0.6407 0.8098 0.79 0.77 0.75 0.68 0.7681 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692009 NA NA 0.776769 0.676203 NA 0.58 NA 1.684731 1484 10 125526689 125526689 G A intronic CPXM2 NA NA NA intronic ENSG00000121898 NA NA NA NA NA 10q26.13 NA NA NA NA rs1896392 0.67 0.67 0.648 0.645767 0.7922 0.5823 0.7406 0.5023 0.6871 0.8 0.58 0.75 0.52 0.7389 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015324 NA NA 0.784419 0.545847 NA 0.63 NA 1.684481 1484 12 123665695 123665695 A G intronic MPHOSPH9 NA NA NA intronic ENSG00000051825 NA NA NA NA NA 12q24.31 NA NA NA NA rs1727306 0.69 0.69 0.649 0.654553 0.7753 0.998 0.7363 0.1551 0.7935 0.77 1 0.73 0.17 0.7481 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594905 NA NA 0.792907 0.27281 NA 0.623 NA 1.683693 1484 9 73442724 73442724 C T intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs1034538 0.76 0.76 0.768 0.766174 0.7763 0.5427 0.8026 0.9569 0.7025 0.77 0.54 0.82 0.96 0.762 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059196 NA NA 0.778721 0.909442 NA 0.833 NA 1.682979 1484 6 118475798 118475798 G A intronic SLC35F1 NA NA NA intronic ENSG00000196376 NA NA NA NA NA 6q22.2 NA NA NA NA rs205966 0.71 0.71 0.718 0.761981 0.7594 0.4762 0.8127 0.8464 0.909 0.75 0.49 0.8 0.85 0.7771 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935921 NA NA 0.781395 0.839991 NA 0.754 NA 1.682105 1484 9 18950980 18950980 A T intronic FAM154A NA NA NA intronic ENSG00000155875 NA NA NA NA NA 9p22.1 NA NA NA NA rs6475274 0.75 0.75 0.746 0.772564 0.7734 0.5685 0.7032 0.9539 0.7863 0.76 0.57 0.73 0.93 0.7613 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68579 NA NA 0.783256 0.929187 NA 0.71 NA 1.682044 1484 1 201044748 201044748 A G intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs1998721 0.75 0.75 0.734 0.759585 0.7604 0.9643 0.7536 0.4955 0.909 0.77 0.95 0.75 0.51 0.7814 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411488 NA NA 0.776977 0.559464 NA 0.674 NA 1.681223 1484 11 126315024 126315024 T C intronic KIRREL3 NA NA NA intronic ENSG00000149571 NA NA NA NA NA 11q24.2 NA NA NA NA rs3802819 0.67 0.67 0.648 0.642772 0.7734 0.5605 0.6931 0.6157 0.5941 0.8 0.56 0.69 0.6 0.734 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283994 NA NA 0.812128 0.690315 NA 0.732 NA 1.680472 1484 17 72346736 72346736 C T intronic KIF19 NA NA NA intronic ENSG00000196169 NA NA NA NA NA 17q25.1 NA NA NA NA rs12451539 0.62 0.62 0.567 0.601637 0.7823 0.7411 0.7478 0.1566 0.7699 0.77 0.72 0.73 0.18 0.7439 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.138945 NA NA 0.794809 0.250567 NA 0.587 NA 1.678991 1484 2 182350743 182350743 A G intronic ITGA4 NA NA NA intronic ENSG00000115232 NA NA NA NA NA 2q31.3 NA NA NA NA rs155103 0.72 0.72 0.72 0.694089 0.7962 0.6498 0.7911 0.6876 0.5746 0.8 0.63 0.8 0.67 0.7439 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783169 NA NA 0.782694 0.720758 NA 0.725 NA 1.677206 1484 9 117033096 117033096 C T intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs2636866 0.79 0.79 0.809 0.788538 0.7704 0.6121 0.8213 0.9871 0.6973 0.76 0.63 0.83 0.99 0.7805 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756388 NA NA 0.773605 0.955288 NA 0.812 NA 1.675495 1485 9 35100569 35100569 A G intronic STOML2 NA NA NA intronic ENSG00000165283 NA NA NA NA NA 9p13.3 NA NA NA NA rs586017 0.7 0.7 0.675 0.696486 0.7803 0.4603 0.8357 0.6959 0.7556 0.79 0.5 0.83 0.71 0.7563 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.706397 2.706397 NA 0.79093 0.707898 NA 0.79 NA 1.67247 1485 15 60678298 60678298 T A intronic ANXA2 NA NA NA UTR5 ENSG00000182718 ENST00000560014:c.-24A>T NA NA NA NA 15q22.2 NA NA NA NA rs11855679 0.83 0.83 0.81 0.838458 0.829 0.999 0.8689 0.6188 0.9581 0.83 1 0.86 0.61 0.8444 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181192 NA NA 0.822558 0.638221 NA 0.739 NA 1.6707087 1485 5 176306676 176306676 G A intronic UNC5A NA NA NA intronic ENSG00000113763 NA NA NA NA NA 5q35.2 NA NA NA NA rs2292257 0.57 0.57 0.531 0.553914 0.8042 0.502 0.5677 0.2867 0.7014 0.8 0.47 0.6 0.3 0.7167 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117691 NA NA 0.809286 0.367077 NA 0.428 NA 1.669814 1485 8 124665211 124665211 C T upstream KLHL38 NA NA NA ncRNA_intronic ENSG00000253286 NA NA NA NA NA 8q24.13 NA NA NA NA rs7387855 0.75 0.75 0.76 0.727636 0.8579 0.7113 0.7118 0.6694 0.7004 0.86 0.7 0.73 0.65 0.7943 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310962 NA NA 0.847059 0.721154 NA 0.826 NA 1.6674076 1485 1 21801346 21801346 G A intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs7531217 0.74 0.74 0.709 0.749601 0.7724 0.8125 0.7925 0.5371 0.9182 0.77 0.78 0.82 0.57 0.7819 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184071 NA NA 0.778721 0.57172 NA 0.717 NA 1.666979 1485 10 7773976 7773976 A G intronic ITIH2 NA NA NA intronic ENSG00000151655 NA NA NA NA NA 10p14 NA NA NA NA rs7098319 0.75 0.75 0.741 0.715256 0.8042 0.6954 0.8718 0.6891 0.5685 0.8 0.72 0.86 0.62 0.7576 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351513 NA NA 0.771628 0.702678 NA 0.645 NA 1.666572 1485 6 70965125 70965125 A C intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs633762 0.87 0.87 0.878 0.8752 0.7515 0.9395 0.8746 0.9939 0.7761 0.75 0.93 0.85 0.99 0.8084 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588542 NA NA 0.774302 0.960054 NA 0.92 NA 1.665798 1486 7 120450658 120450658 G A intronic TSPAN12 NA NA NA intronic ENSG00000106025 NA NA NA NA NA 7q31.31 NA NA NA NA rs7805733 0.82 0.82 0.825 0.842252 0.7624 0.9603 0.8415 0.7579 0.9172 0.75 0.97 0.83 0.76 0.8 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370568 NA NA 0.772791 0.760781 NA 0.819 NA 1.664809 1486 2 234449462 234449462 T C intronic USP40 NA NA NA intronic ENSG00000085982 NA NA NA NA NA 2q37.1 NA NA NA NA rs1545525 0.77 0.77 0.77 0.763379 0.7535 0.8542 0.8487 0.5696 0.8814 0.77 0.88 0.85 0.59 0.7949 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708001 NA NA 0.786952 0.635593 NA 0.797 NA 1.664648 1486 21 47786494 47786494 C T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839226 0.69 0.69 0.687 0.657748 0.7833 0.7976 0.7233 0.3933 0.6953 0.77 0.79 0.76 0.4 0.7487 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03571 NA NA 0.805157 0.461203 NA 0.652 NA 1.662843 1486 20 42205061 42205061 G A intronic SGK2 NA NA NA intronic ENSG00000101049 NA NA NA NA NA 20q13.12 NA NA NA NA rs763227 0.73 0.73 0.708 0.724241 0.7982 0.7927 0.781 0.5454 0.7791 0.79 0.77 0.79 0.53 0.7604 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085344 NA NA 0.779419 0.588062 NA 0.725 NA 1.661981 1486 5 9066802 9066802 G A intronic SEMA5A NA NA NA intronic ENSG00000112902 NA NA NA NA NA 5p15.31 NA NA NA NA rs786846 0.82 0.82 0.793 0.803514 0.7694 0.9405 0.8242 0.7247 0.7894 0.77 0.94 0.82 0.73 0.7978 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547962 NA NA 0.771163 0.744666 NA 0.768 NA 1.661637 1486 1 161022380 161022380 G A intronic ARHGAP30 NA NA NA intronic ENSG00000186517 NA NA NA NA NA 1q23.3 NA NA NA NA rs4396136 0.79 0.79 0.797 0.782947 0.7913 0.7083 0.7536 0.8941 0.7219 0.79 0.74 0.75 0.87 0.7712 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.385658 NA NA 0.776163 0.882433 NA 0.855 NA 1.661337 1486 11 60559805 60559805 A G intronic MS4A10 NA NA NA intronic ENSG00000172689 NA NA NA NA NA 11q12.2 NA NA NA NA rs931861 0.74 0.74 0.723 0.736222 0.7883 0.8929 0.7147 0.4834 0.8783 0.79 0.9 0.74 0.48 0.7678 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.434383 NA NA 0.783787 0.522469 NA 0.638 NA 1.660113 1486 22 51064141 51064141 G A intronic ARSA NA NA NA intronic ENSG00000100299 NA NA NA NA NA 22q13.33 NA NA NA NA rs762673 0.8 0.8 0.783 0.800719 0.7734 0.9752 0.8401 0.6309 0.8507 0.77 0.97 0.8 0.67 0.7984 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.241355 NA NA 0.771173 0.657643 NA 0.638 NA 1.657027 1486 19 10741907 10741907 A G intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA NA NA NA rs12972963 0.76 0.76 0.753 0.786342 0.7634 0.7113 0.8415 0.8578 0.7515 0.77 0.65 0.81 0.86 0.7938 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18364 NA NA 0.786047 0.840899 NA 0.754 NA 1.656753 1486 19 10742287 10742287 C T intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA NA NA NA rs1560711 0.77 0.77 0.758 0.790735 0.7634 0.7103 0.8415 0.8623 0.7689 0.77 0.66 0.81 0.86 0.7935 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675478 NA NA 0.786395 0.846573 NA 0.775 NA 1.656705 1486 19 10742443 10742443 C T intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA NA NA NA rs1560710 0.75 0.75 0.772 0.788938 0.7634 0.7113 0.8415 0.8631 0.7577 0.76 0.65 0.79 0.84 0.7942 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171124 NA NA 0.78593 0.847254 NA 0.754 NA 1.65647 1486 19 10742463 10742463 G T intronic SLC44A2 NA NA NA intronic ENSG00000129353 NA NA NA NA NA 19p13.2 NA NA NA NA rs1560709 0.76 0.76 0.766 0.789137 0.7634 0.7113 0.8415 0.8638 0.7577 0.76 0.65 0.81 0.84 0.7941 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148124 NA NA 0.786163 0.847254 NA 0.768 NA 1.656337 1486 10 70143774 70143774 C T intronic RUFY2 NA NA NA intronic ENSG00000204130 NA NA NA NA NA 10q21.3 NA NA NA NA rs7899885 0.71 0.71 0.712 0.663938 0.7972 0.8611 0.6744 0.388 0.6892 0.8 0.85 0.73 0.4 0.7463 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.261035 NA NA 0.800587 0.462658 NA 0.659 NA 1.655913 1486 4 48169769 48169769 A G intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA NA NA NA rs7689953 0.79 0.79 0.789 0.75599 0.7734 0.9097 0.8386 0.5877 0.7485 0.78 0.93 0.8 0.63 0.7853 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397357 NA NA 0.785465 0.618021 NA 0.717 NA 1.655835 1486 22 42076381 42076381 C A intronic NHP2L1 NA NA NA intronic ENSG00000100138 NA NA NA NA NA 22q13.2 NA NA NA NA rs5758405 0.81 0.81 0.848 0.777756 0.7903 0.9087 0.5115 0.9175 0.6299 0.8 0.91 0.53 0.91 0.7528 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889727 NA NA 0.801163 0.902406 NA 0.804 NA 1.655737 1486 5 137295823 137295823 T C intronic FAM13B NA NA NA intronic ENSG00000031003 NA NA NA NA NA 5q31.2 NA NA NA NA rs9327802 0.78 0.78 0.786 0.789736 0.7634 0.9712 0.7767 0.5938 0.9039 0.77 0.97 0.73 0.61 0.7988 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.338435 1.338435 NA 0.782375 0.628024 NA 0.717 NA 1.655425 1486 17 4886037 4886037 A G intronic CAMTA2 NA NA NA intronic ENSG00000108509 NA NA NA NA NA 17p13.2 NA NA NA NA rs238232 0.75 0.75 0.734 0.719249 0.7863 0.499 0.8516 0.9486 0.4734 0.79 0.49 0.83 0.93 0.753 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.856542 1.856542 NA 0.805349 0.934862 NA 0.826 NA 1.655351 1486 10 8111409 8111409 C T intronic GATA3 NA NA NA intronic ENSG00000107485 NA NA NA NA NA 10p14 NA NA NA NA rs422628 0.83 0.83 0.799 0.826877 0.7793 0.9544 0.8689 0.736 0.8374 0.76 0.95 0.83 0.78 0.8025 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169399 NA NA 0.762907 0.735134 NA 0.71 NA 1.655293 1487 10 13206233 13206233 A T intronic MCM10 NA NA NA intronic ENSG00000065328 NA NA NA NA NA 10p13 NA NA NA NA rs7090944 0.8 0.8 0.786 0.796925 0.7753 0.869 0.8689 0.7035 0.82 0.77 0.86 0.83 0.73 0.7979 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.903071 2.903071 NA 0.772093 0.70177 NA 0.754 NA 1.654707 1487 8 61655690 61655690 G A intronic CHD7 NA NA NA intronic ENSG00000171316 NA NA NA NA NA 8q12.2 NA NA NA NA rs7836586 0.8 0.8 0.775 0.827077 0.7654 0.9395 0.8228 0.7148 0.9294 0.77 0.92 0.78 0.7 0.8119 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030446 NA NA 0.768059 0.750757 NA 0.812 NA 1.654641 1487 9 130241822 130241822 T C intronic LRSAM1 NA NA NA intronic ENSG00000148356 NA NA NA NA NA 9q33.3 NA NA NA NA rs1539569 0.73 0.73 0.719 0.727835 0.7972 0.6935 0.8098 0.6278 0.7689 0.81 0.69 0.76 0.63 0.7783 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501149 NA NA 0.770349 0.685967 NA 0.739 NA 1.654151 1487 21 34894623 34894623 T C intronic GART NA NA NA intronic ENSG00000159131 NA NA NA NA NA 21q22.11 NA NA NA NA rs2834234 0.87 0.87 0.847 0.874002 0.7753 0.9831 0.8689 0.9183 0.8067 0.77 0.99 0.87 0.9 0.8103 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660773 NA NA 0.760698 0.90286 NA 0.877 NA 1.653702 1487 15 41146581 41146581 T C intronic SPINT1 NA NA NA intronic ENSG00000166145 NA NA NA NA NA 15q15.1 NA NA NA NA rs3736287 0.74 0.74 0.715 0.739217 0.7863 0.7143 0.8184 0.6573 0.771 0.79 0.7 0.83 0.65 0.7849 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869174 NA NA 0.77814 0.688153 NA 0.746 NA 1.65066 1487 17 4882952 4882952 G A intronic CAMTA2 NA NA NA intronic ENSG00000108509 NA NA NA NA NA 17p13.2 NA NA NA NA rs1859434 0.75 0.75 0.746 0.71845 0.7843 0.498 0.8487 0.9486 0.4744 0.79 0.49 0.83 0.93 0.7613 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008081 NA NA 0.805 0.934862 NA 0.826 NA 1.6494 1487 10 16878204 16878204 T C intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA NA NA 10p13 NA NA NA NA rs703062 0.7 0.7 0.688 0.663538 0.8062 0.4871 0.7594 0.6611 0.6339 0.83 0.53 0.74 0.66 0.739 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950882 NA NA 0.805814 0.682025 ID=COSN163571;OCCURENCE=1(breast) 0.638 NA 1.648986 1487 8 133961237 133961237 G C intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs2246611 0.79 0.79 0.778 0.810503 0.7624 0.8224 0.8804 0.7905 0.8252 0.76 0.82 0.86 0.74 0.807 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555065 NA NA 0.784302 0.801861 NA 0.826 NA 1.646298 1487 8 113842039 113842039 G A intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs10106945 0.85 0.85 0.857 0.869808 0.7724 0.9147 0.8429 0.9289 0.863 0.78 0.91 0.8 0.91 0.815 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481945 NA NA 0.766512 0.906718 NA 0.775 NA 1.646088 1488 8 133960991 133960991 C T intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs2246624 0.79 0.79 0.77 0.810703 0.7634 0.8224 0.8804 0.7905 0.8252 0.76 0.82 0.86 0.74 0.8067 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.095424 NA NA 0.785233 0.802088 NA 0.826 NA 1.644667 1488 2 26671544 26671544 A G intronic DRC1 NA NA NA intronic ENSG00000157856 NA NA NA NA NA 2p23.3 NA NA NA NA rs4072407 0.53 0.53 0.469 0.530351 0.8151 0.2798 0.598 0.3109 0.7444 0.83 0.24 0.65 0.33 0.7157 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.500488 NA NA 0.825814 0.390831 NA 0.514 NA 1.643386 1488 8 54745538 54745538 C G intronic ATP6V1H NA NA NA intronic ENSG00000047249 NA NA NA NA NA 8q11.23 NA NA NA NA rs6991513 0.86 0.86 0.867 0.858027 0.7734 0.8671 0.8458 0.9856 0.772 0.78 0.88 0.83 0.98 0.8065 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898651 NA NA 0.777093 0.955515 NA 0.841 NA 1.643007 1488 5 137323117 137323117 A G intronic FAM13B NA NA NA intronic ENSG00000031003 NA NA NA NA NA 5q31.2 NA NA NA NA rs7714536 0.78 0.78 0.777 0.789736 0.7634 0.9712 0.7767 0.5938 0.9039 0.77 0.97 0.73 0.61 0.8148 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737415 NA NA 0.783085 0.628065 NA 0.696 NA 1.638715 1488 8 139158317 139158317 T C intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA NA NA NA rs7006664 0.88 0.88 0.875 0.895567 0.7823 0.997 0.8703 0.8797 0.9468 0.78 0.99 0.86 0.9 0.8196 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.13627 3.13627 NA 0.759651 0.867907 NA 0.913 NA 1.638449 1488 8 139149510 139149510 A C intronic FAM135B NA NA NA intronic ENSG00000147724 NA NA NA NA NA 8q24.23 NA NA NA NA rs6577877 0.87 0.87 0.875 0.892772 0.7833 0.997 0.8674 0.8744 0.9407 0.78 0.99 0.86 0.89 0.8184 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714349 NA NA 0.760386 0.87038 NA 0.906 NA 1.637914 1489 3 46484898 46484898 T G intronic LTF NA NA NA intronic ENSG00000012223 NA NA NA NA NA 3p21.31 NA NA NA NA rs7615975 0.89 0.89 0.883 0.919928 0.7644 1 0.8674 0.9932 0.9356 0.76 1 0.85 1 0.8359 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530482 NA NA 0.765014 0.952111 NA 0.913 NA 1.634686 1489 3 164733721 164733721 G A intronic SI NA NA NA intronic ENSG00000090402 NA NA NA NA NA 3q26.1 NA NA NA NA rs2290738 0.75 0.75 0.717 0.69349 0.8131 0.8621 0.7478 0.5061 0.6115 0.83 0.87 0.73 0.49 0.7572 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213089 NA NA 0.795116 0.553109 NA 0.746 NA 1.634584 1489 16 23486197 23486197 A G intronic GGA2 NA NA NA intronic ENSG00000103365 NA NA NA NA NA 16p12.2 NA NA NA NA rs11074559 0.69 0.69 0.67 0.66254 0.8111 0.6994 0.719 0.472 0.6892 0.81 0.68 0.75 0.5 0.7505 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186277 NA NA 0.805349 0.540301 NA 0.638 NA 1.633051 1489 4 48147612 48147612 T G intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA NA NA NA rs2661547 0.84 0.84 0.847 0.824481 0.7734 0.9107 0.866 0.8321 0.7485 0.78 0.93 0.84 0.83 0.8062 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14758 NA NA 0.787907 0.843395 NA 0.79 NA 1.632493 1489 4 48170669 48170669 A G intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA NA NA NA rs2243840 0.84 0.84 0.85 0.824281 0.7744 0.9097 0.8646 0.8321 0.7485 0.78 0.93 0.83 0.84 0.8061 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464196 NA NA 0.787558 0.846346 NA 0.79 NA 1.631942 1489 6 160225559 160225559 G C intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA NA NA 6q25.3 NA NA NA NA rs9364536 0.74 0.74 0.709 0.763978 0.7952 0.5893 0.8761 0.7496 0.8517 0.8 0.57 0.87 0.74 0.7944 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015485 NA NA 0.781977 0.729914 NA 0.645 NA 1.628423 1489 20 50290654 50290654 T C intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs6091346 0.72 0.72 0.69 0.713458 0.7942 0.7986 0.7752 0.5068 0.7781 0.78 0.81 0.77 0.5 0.7734 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116282 NA NA 0.804535 0.591693 NA 0.746 NA 1.627865 1490 22 24472270 24472270 A G intronic CABIN1 NA NA NA intronic ENSG00000099991 NA NA NA NA NA 22q11.23 NA NA NA NA rs2283807 0.66 0.66 0.611 0.65655 0.7843 0.6052 0.7954 0.4644 0.7393 0.8 0.56 0.82 0.47 0.7707 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674122 NA NA 0.82093 0.495234 ID=COSN166722;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.551 NA 1.62407 1490 8 61707725 61707725 G A intronic CHD7 NA NA NA intronic ENSG00000171316 NA NA NA NA NA 8q12.2 NA NA NA NA rs4540437 0.86 0.86 0.863 0.896965 0.7714 0.9444 0.8429 0.9576 0.9335 0.77 0.92 0.81 0.95 0.8316 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199184 NA NA 0.77552 0.925589 NA 0.899 NA 1.62148 1490 11 403939 403939 A G intronic PKP3 NA NA NA intronic ENSG00000184363 NA NA NA NA NA 11p15.5 NA NA NA NA rs7479832 0.9 0.9 0.9 0.926917 0.7783 0.998 0.8991 0.9826 0.9509 0.78 1 0.88 0.98 0.8396 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316801 NA NA 0.761688 0.946033 NA 0.862 NA 1.620412 1490 16 23541223 23541223 G A intronic EARS2 NA NA NA intronic ENSG00000103356 NA NA NA NA NA 16p12.2 NA NA NA NA rs2072061 0.69 0.69 0.7 0.673123 0.8131 0.6974 0.7233 0.5106 0.6881 0.78 0.67 0.75 0.52 0.7557 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502431 NA NA 0.812425 0.577178 NA 0.717 NA 1.618775 1490 4 79845007 79845007 C A intronic PAQR3 NA NA NA intronic ENSG00000163291 NA NA NA NA NA 4q21.21 NA NA NA NA rs13108247 0.74 0.74 0.732 0.712061 0.826 0.6597 0.7032 0.7337 0.6258 0.82 0.67 0.73 0.72 0.7491 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102632 NA NA 0.808256 0.723332 NA 0.71 NA 1.616644 1491 16 1817768 1817768 T G intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2076428 0.76 0.76 0.746 0.767971 0.7913 0.6448 0.8746 0.8555 0.6769 0.79 0.62 0.85 0.81 0.7894 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.888232 NA NA 0.806455 0.852732 NA 0.833 NA 1.612845 1491 13 48563008 48563008 G A intronic SUCLA2 NA NA NA intronic ENSG00000136143 NA NA NA NA NA 13q14.2 NA NA NA NA rs6561424 0.72 0.72 0.728 0.683506 0.8181 0.8006 0.6571 0.553 0.6196 0.8 0.75 0.72 0.55 0.7515 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388347 NA NA 0.818023 0.593509 NA 0.797 NA 1.612377 1491 16 1817754 1817754 A G intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2076427 0.76 0.76 0.751 0.76857 0.7913 0.6488 0.8746 0.8555 0.6759 0.79 0.63 0.85 0.81 0.7897 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.056994 NA NA 0.808357 0.850941 NA 0.855 NA 1.610643 1491 16 1817935 1817935 A C intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2076429 0.76 0.76 0.754 0.770767 0.7913 0.6558 0.8746 0.8555 0.68 0.79 0.63 0.85 0.81 0.7899 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.573045 NA NA 0.808897 0.850525 NA 0.841 NA 1.609903 1491 5 135188214 135188214 G C intronic SLC25A48 NA NA NA intronic ENSG00000145832 NA NA NA NA NA 5q31.1 NA NA NA NA rs2304078 0.74 0.74 0.757 0.742812 0.8211 0.7123 0.67 0.7269 0.7669 0.82 0.66 0.7 0.77 0.7646 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752128 NA NA 0.805083 0.751503 NA 0.746 NA 1.609217 1491 10 99682981 99682981 T C intronic CRTAC1 NA NA NA intronic ENSG00000095713 NA NA NA NA NA 10q24.2 NA NA NA NA rs894375 0.82 0.82 0.826 0.798522 0.7942 0.9226 0.8761 0.7504 0.6851 0.81 0.92 0.87 0.72 0.8032 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720652 NA NA 0.79344 0.751702 NA 0.841 NA 1.60916 1491 19 1031212 1031212 A G intronic CNN2 NA NA NA intronic ENSG00000064666 NA NA NA NA NA 19p13.3 NA NA NA NA rs7247087 0.81 0.81 0.79 0.812899 0.7903 0.8938 0.7622 0.7481 0.8763 0.8 0.9 0.81 0.73 0.8042 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682003 NA NA 0.796348 0.733772 NA 0.79 NA 1.609152 1491 3 64526942 64526942 A C intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs3796383 0.55 0.55 0.511 0.533147 0.833 0.4147 0.4769 0.2489 0.771 0.83 0.4 0.58 0.25 0.7075 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573904 NA NA 0.850349 0.307081 NA 0.543 NA 1.609151 1491 10 119014948 119014948 C A intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363343 0.65 0.65 0.623 0.637979 0.8241 0.4236 0.7378 0.6309 0.6063 0.81 0.42 0.74 0.59 0.7412 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714846 NA NA 0.825698 0.646618 NA 0.696 NA 1.609002 1491 10 6005674 6005674 G A intronic IL15RA NA NA NA intronic ENSG00000134470 NA NA NA NA NA 10p15.1 NA NA NA NA rs3136614 0.86 0.86 0.86 0.878994 0.7773 0.9563 0.8775 0.8797 0.9039 0.81 0.95 0.85 0.84 0.839 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110667 NA NA 0.777326 0.884249 NA 0.87 NA 1.606374 1491 4 2928413 2928413 T C intronic ADD1 NA NA NA intronic ENSG00000087274 NA NA NA NA NA 4p16.3 NA NA NA NA rs4964 0.73 0.73 0.725 0.766973 0.7952 0.5724 0.8242 0.8351 0.8057 0.78 0.53 0.81 0.84 0.7902 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824819 NA NA 0.808544 0.835202 NA 0.681 NA 1.606056 1491 3 64527336 64527336 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs1036919 0.54 0.54 0.511 0.53115 0.833 0.4147 0.4741 0.2421 0.772 0.83 0.4 0.57 0.23 0.7086 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077417 NA NA 0.852558 0.309124 NA 0.543 NA 1.605842 1491 3 64527321 64527321 T C intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs1373163 0.55 0.55 0.512 0.533147 0.833 0.4147 0.4741 0.2496 0.772 0.83 0.4 0.57 0.25 0.7092 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10029 NA NA 0.852408 0.312982 NA 0.543 NA 1.605392 1492 1 22157689 22157689 G A intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs3736355 0.76 0.76 0.753 0.759185 0.8042 0.8046 0.7277 0.6528 0.8323 0.79 0.81 0.72 0.68 0.7923 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.448574 NA NA 0.802163 0.706764 NA 0.667 NA 1.601337 1492 22 32002294 32002294 T C intronic SFI1 NA NA NA intronic ENSG00000198089 NA NA NA NA NA 22q12.2 NA NA NA NA rs5753723 0.88 0.88 0.886 0.884984 0.7903 0.9246 0.7954 0.9917 0.8609 0.79 0.93 0.82 0.99 0.8204 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256244 NA NA 0.788859 0.95827 NA 0.87 NA 1.600441 1492 18 72226539 72226539 T C intronic CNDP1 NA NA NA intronic ENSG00000150656 NA NA NA NA NA 18q22.3 NA NA NA NA rs12607796 0.79 0.79 0.79 0.757188 0.7992 0.9335 0.8573 0.5446 0.7485 0.8 0.92 0.83 0.59 0.7963 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136756 NA NA 0.804535 0.582388 NA 0.717 NA 1.599965 1492 9 94456705 94456705 T A intergenic MIR3910-1,ROR2 dist=58062;dist=28173 NA NA intronic ENSG00000169071 NA NA NA NA NA 9q22.31 NA NA NA NA rs923770 0.7 0.7 0.695 0.696486 0.7078 0.7788 0.7738 0.6762 0.5726 0.7 0.77 0.71 0.63 0.6639 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138023 NA NA 0.695462 0.677267 NA 0.667 NA 1.5995047 1492 4 2934308 2934308 G A intronic MFSD10 NA NA NA intronic ENSG00000109736 NA NA NA NA NA 4p16.3 NA NA NA NA rs1263349 0.71 0.71 0.722 0.743211 0.8032 0.5427 0.8084 0.7708 0.8047 0.79 0.48 0.8 0.77 0.7862 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819478 NA NA 0.811279 0.768724 NA 0.638 NA 1.599321 1492 19 57834963 57834963 C T intronic ZNF543 NA NA NA intronic ENSG00000178229 NA NA NA NA NA 19q13.43 NA NA NA NA rs4801466 0.8 0.8 0.796 0.807708 0.7843 0.6627 0.7709 0.9826 0.771 0.79 0.68 0.77 0.98 0.8009 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034594 NA NA 0.815922 0.954909 NA 0.812 NA 1.598878 1492 2 223787559 223787559 G A intronic ACSL3 NA NA NA intronic ENSG00000123983 NA NA NA NA NA 2q36.1 NA NA NA NA rs11891410 0.88 0.88 0.887 0.904353 0.7893 0.9732 0.8876 0.9342 0.9233 0.79 0.97 0.87 0.93 0.8366 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496128 NA NA 0.776512 0.923513 NA 0.899 NA 1.597588 1492 12 48537624 48537624 A G intronic PFKM NA NA NA intronic ENSG00000152556 NA NA NA NA NA 12q13.11 NA NA NA NA rs4075913 0.65 0.65 0.677 0.645367 0.839 0.3542 0.5504 0.7678 0.6483 0.84 0.4 0.56 0.73 0.7352 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447361 NA NA 0.83 0.772356 NA 0.79 NA 1.5958 1493 17 56581651 56581651 C G intronic MTMR4 NA NA NA intronic ENSG00000108389 NA NA NA NA NA 17q22 NA NA NA NA rs4277402 0.89 0.89 0.898 0.910942 0.7734 1 0.8833 0.9599 0.9141 0.79 1 0.85 0.95 0.8461 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.663435 NA NA 0.78686 0.939174 NA 0.775 NA 1.59364 1493 3 16646745 16646745 C G UTR5 DAZL NM_001351:c.-33G>C NA NA UTR5 ENSG00000092345 ENST00000399444:c.-33G>C NA NA NA NA 3p24.3 NA NA NA NA rs9847342 0.95 0.95 0.935 0.967652 0.8926 0.998 0.9582 0.9962 0.9816 0.89 0.99 0.95 1 0.9355 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047984 NA NA 0.911895 0.978261 NA 0.486 NA 1.5933384 1493 8 144641753 144641753 A C intronic GSDMD NA NA NA intronic ENSG00000104518 NA NA NA NA NA 8q24.3 NA NA NA NA rs4874151 0.78 0.78 0.76 0.771366 0.8062 0.9206 0.7176 0.6498 0.7843 0.79 0.91 0.73 0.65 0.7871 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22053 NA NA 0.814698 0.64766 NA 0.681 NA 1.592002 1493 2 168986154 168986154 A G intronic STK39 NA NA NA intronic ENSG00000198648 NA NA NA NA NA 2q24.3 NA NA NA NA rs925846 0.81 0.81 0.804 0.802915 0.7932 0.7698 0.8516 0.8253 0.7822 0.81 0.82 0.81 0.83 0.8147 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.234829 1.234829 NA 0.801901 0.81931 NA 0.819 NA 1.590199 1493 17 40024023 40024023 A T UTR3 ACLY NM_001096:c.*40T>A,NM_198830:c.*40T>A NA NA UTR3 ENSG00000131473 ENST00000352035:c.*40T>A,ENST00000590151:c.*40T>A,ENST00000353196:c.*40T>A,ENST00000537919:c.*40T>A,ENST00000393896:c.*40T>A NA NA NA NA 17q21.2 NA NA NA NA rs7217218 0.91 0.91 0.907 0.923522 0.8986 1 0.9366 0.8389 0.9755 0.89 1 0.91 0.83 0.9278 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035277 NA NA 0.918953 0.857921 NA 0.957 NA 1.5879804 1493 8 124663769 124663769 A T intronic KLHL38 NA NA NA ncRNA_intronic ENSG00000253286 NA NA NA NA NA 8q24.13 NA NA NA NA rs10109736 0.9 0.9 0.916 0.909545 0.9264 0.9315 0.8429 0.8949 0.9366 0.93 0.92 0.85 0.87 0.9039 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24981 NA NA 0.915081 0.90447 NA 0.928 NA 1.5879523 1493 17 73242895 73242895 A G intronic GGA3 NA NA NA intronic ENSG00000125447 NA NA NA NA NA 17q25.1 NA NA NA NA rs2242230 0.73 0.73 0.709 0.709864 0.7982 0.8304 0.7954 0.4115 0.8374 0.81 0.89 0.78 0.39 0.8033 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2181 NA NA 0.811512 0.498411 NA 0.739 NA 1.586988 1493 10 94545 94545 C T intronic TUBB8 NA NA NA intronic ENSG00000173876 NA NA NA NA NA 10p15.3 NA NA NA NA rs10904047 0.65 0.65 0.61 0.671526 0.838 0.4593 0.6945 0.7254 0.6299 0.78 0.41 0.67 0.71 0.7447 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53225 NA NA 0.83112 0.734318 NA 0.014 NA 1.58618 1493 9 14851617 14851617 T C intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA NA NA rs2818940 0.78 0.78 0.767 0.769569 0.8111 0.9573 0.7983 0.4939 0.8855 0.82 0.95 0.78 0.53 0.8054 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024989 NA NA 0.797353 0.574801 NA 0.819 NA 1.586147 1493 22 37163329 37163329 C T intronic IFT27 NA NA NA intronic ENSG00000100360 NA NA NA NA NA 22q12.3 NA NA NA NA rs1048012 0.8 0.8 0.815 0.752596 0.827 0.9127 0.683 0.6384 0.7147 0.82 0.93 0.71 0.68 0.7788 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512292 NA NA 0.808953 0.666818 NA 0.826 NA 1.585247 1494 19 56691912 56691912 G C intronic GALP NA NA NA intronic ENSG00000197487 NA NA NA NA NA 19q13.43 NA NA NA NA rs274171 0.85 0.85 0.836 0.846845 0.8012 0.9256 0.8631 0.8366 0.8149 0.79 0.92 0.84 0.85 0.827 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139724 NA NA 0.789186 0.838175 NA 0.884 NA 1.582614 1494 1 22183471 22183471 A C intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs12024579 0.75 0.75 0.776 0.749002 0.8151 0.8095 0.6772 0.6309 0.8292 0.8 0.82 0.69 0.65 0.791 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.374819 NA NA 0.81314 0.670676 NA 0.688 NA 1.58076 1494 15 28231793 28231793 T C intronic OCA2 NA NA NA intronic ENSG00000104044 NA NA NA NA NA 15q13.1 NA NA NA NA rs10852218 0.76 0.76 0.724 0.693291 0.8211 0.999 0.7305 0.4168 0.5941 0.82 1 0.74 0.42 0.7793 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.504935 1.504935 NA 0.818953 0.49478 NA 0.703 NA 1.580647 1494 3 41957466 41957466 T G intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs1716698 0.7 0.7 0.666 0.68131 0.8091 0.8512 0.8098 0.2806 0.8252 0.8 0.84 0.8 0.28 0.7865 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.19649 NA NA 0.824231 0.339087 NA 0.652 NA 1.580169 1494 7 825114 825114 T C intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA NA NA NA rs67721251 0.72 0.72 0.734 0.741014 0.8191 0.619 0.6816 0.7171 0.8609 0.81 0.63 0.67 0.74 0.7795 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.338586 NA NA 0.822326 0.709714 NA 0.681 NA 1.579074 1494 14 106090927 106090927 G T intergenic TMEM121,ELK2AP dist=94388;dist=44987 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon4:c.C870A:p.L290L NA NA 14q32.33 NA NA NA NA rs8010914 0.88 0.88 0.85 0.868011 0.9831 0.998 0.9597 0.5371 0.998 0.99 0.97 0.95 0.54 0.9532 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.361441 NA NA 0.987943 0.671008 NA 0.167 NA 1.575757 1495 15 42139038 42139038 G A intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs890508 0.76 0.76 0.737 0.750599 0.8171 0.876 0.8213 0.5613 0.7587 0.82 0.87 0.81 0.51 0.7965 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062536 NA NA 0.811512 0.608034 NA 0.638 NA 1.574888 1495 4 47951945 47951945 G A intronic CNGA1 NA NA NA intronic ENSG00000198515 NA NA NA NA NA 4p12 NA NA NA NA rs1972883 0.89 0.89 0.885 0.880391 0.7913 0.9831 0.8732 0.9289 0.8057 0.81 0.99 0.86 0.92 0.8372 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143748 NA NA 0.796936 0.92195 NA 0.92 NA 1.574564 1495 11 1216440 1216440 G C intergenic MUC2,MUC5B dist=112023;dist=27855 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=54079;dist=27856 NA NA NA NA 11p15.5 NA NA NA NA rs28415193 0.56 0.56 0.504 0.51278 0.5885 0.6687 0.5562 0.2995 0.5317 0.6 0.72 0.58 0.29 0.5848 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133714 NA NA 0.586224 0.330645 NA 0.471 NA 1.5738094 1495 15 42134371 42134371 G C intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1648834 0.77 0.77 0.726 0.755591 0.8171 0.88 0.8228 0.5749 0.7607 0.82 0.87 0.81 0.53 0.797 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.475994 NA NA 0.812093 0.620744 NA 0.667 NA 1.573807 1495 10 116100320 116100320 T G intronic AFAP1L2 NA NA NA intronic ENSG00000169129 NA NA NA NA NA 10q25.3 NA NA NA NA rs4752395 0.74 0.74 0.696 0.694489 0.8181 0.9454 0.781 0.3411 0.7249 0.82 0.94 0.81 0.35 0.7863 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887991 NA NA 0.821977 0.423059 NA 0.71 NA 1.573623 1495 18 59174817 59174817 C A intronic CDH20 NA NA NA intronic ENSG00000101542 NA NA NA NA NA 18q21.33 NA NA NA NA rs1547956 0.76 0.76 0.752 0.71865 0.8429 0.751 0.7046 0.5582 0.7843 0.83 0.77 0.77 0.63 0.7786 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197074 NA NA 0.805465 0.585565 NA 0.645 NA 1.573035 1495 11 61624885 61624885 G C intronic FADS2 NA NA NA intronic ENSG00000134824 NA NA NA NA NA 11q12.2 NA NA NA NA rs526126 0.7 0.7 0.645 0.680112 0.8111 0.8244 0.8386 0.2375 0.8824 0.81 0.87 0.8 0.25 0.8 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090177 NA NA 0.816004 0.340599 NA 0.674 NA 1.572896 1495 11 6243843 6243843 C G intronic FAM160A2 NA NA NA intronic ENSG00000051009 NA NA NA NA NA 11p15.4 NA NA NA NA rs3750946 0.78 0.78 0.766 0.760184 0.8161 0.9593 0.8228 0.4682 0.8476 0.81 0.96 0.85 0.49 0.8028 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671206 NA NA 0.80831 0.529305 NA 0.797 NA 1.57279 1495 4 47953515 47953515 A T intronic CNGA1 NA NA NA intronic ENSG00000198515 NA NA NA NA NA 4p12 NA NA NA NA rs3845160 0.89 0.89 0.879 0.88099 0.7913 0.9831 0.8746 0.9304 0.8057 0.81 0.99 0.86 0.92 0.8372 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834206 NA NA 0.798938 0.924165 NA 0.92 NA 1.572562 1495 10 105797378 105797378 G A intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q24.33 NA NA NA NA rs2282437 0.72 0.72 0.694 0.682907 0.8171 0.8194 0.768 0.4153 0.7055 0.81 0.84 0.78 0.4 0.7781 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064767 NA NA 0.833023 0.488652 NA 0.746 NA 1.571777 1495 11 1221817 1221817 G C intergenic MUC2,MUC5B dist=117400;dist=22478 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=59456;dist=22479 NA NA NA NA 11p15.5 NA NA NA NA rs1132440 0.55 0.55 0.573 0.491414 0.5924 0.6498 0.5533 0.2927 0.4489 0.59 0.72 0.58 0.28 0.5793 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341228 NA NA 0.590634 0.336605 NA 0.464 NA 1.5709994 1495 13 25466774 25466774 T C intronic CENPJ NA NA NA intronic ENSG00000151849 NA NA NA NA NA 13q12.12 NA NA NA NA rs9318917 0.77 0.77 0.729 0.73722 0.7972 0.8601 0.8415 0.6021 0.6575 0.81 0.87 0.81 0.57 0.8036 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088246 NA NA 0.830814 0.64503 NA 0.739 NA 1.568386 1495 1 9658707 9658707 G A intronic TMEM201 NA NA NA intronic ENSG00000188807 NA NA NA NA NA 1p36.22 NA NA NA NA rs9430182 0.75 0.75 0.751 0.746406 0.8121 0.6964 0.7767 0.6846 0.7924 0.8 0.71 0.78 0.71 0.7963 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753896 NA NA 0.823927 0.719973 NA 0.572 NA 1.567673 1495 13 25458650 25458650 G A intronic CENPJ NA NA NA intronic ENSG00000151849 NA NA NA NA NA 13q12.12 NA NA NA NA rs1530876 0.78 0.78 0.751 0.748203 0.7962 0.8601 0.8458 0.6422 0.6575 0.81 0.87 0.81 0.62 0.8066 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.159574 NA NA 0.831744 0.685202 NA 0.768 NA 1.565456 1495 20 50244098 50244098 T C intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA NA NA NA rs2426317 0.73 0.73 0.693 0.707867 0.8231 0.8006 0.7277 0.472 0.7986 0.82 0.79 0.76 0.5 0.7829 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220017 NA NA 0.828953 0.571493 NA 0.717 NA 1.565047 1496 15 42137282 42137282 G A intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1648829 0.76 0.76 0.724 0.752995 0.8171 0.877 0.8228 0.5681 0.7597 0.82 0.87 0.81 0.52 0.804 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133402 NA NA 0.81397 0.623524 NA 0.659 NA 1.56493 1496 20 57565943 57565943 G C intronic NELFCD NA NA NA intronic ENSG00000101158 NA NA NA NA NA 20q13.32 NA NA NA NA rs163782 0.82 0.82 0.812 0.827077 0.826 0.8641 0.7781 0.8169 0.8384 0.82 0.88 0.8 0.79 0.8047 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.151155 NA NA 0.807326 0.809805 NA 0.87 NA 1.561974 1496 12 48389643 48389643 A C intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs1034762 0.7 0.7 0.713 0.682708 0.8489 0.4821 0.5965 0.7874 0.638 0.85 0.48 0.62 0.78 0.7489 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41463 NA NA 0.840465 0.782569 NA 0.804 NA 1.561735 1496 11 1218143 1218143 A C intergenic MUC2,MUC5B dist=113726;dist=26152 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=55782;dist=26153 NA NA NA NA 11p15.5 NA NA NA NA rs28515631 0.57 0.57 0.536 0.503794 0.5954 0.6498 0.5576 0.3343 0.4499 0.59 0.72 0.59 0.33 0.5922 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848678 NA NA 0.587154 0.37935 NA 0.536 NA 1.5585794 1496 8 39521419 39521419 T C intronic ADAM18 NA NA NA intronic ENSG00000168619 NA NA NA NA NA 8p11.22 NA NA NA NA rs6988389 0.68 0.68 0.671 0.699081 0.8211 0.3591 0.7435 0.7511 0.8221 0.82 0.39 0.76 0.73 0.7778 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257877 NA NA 0.843336 0.779392 NA 0.761 NA 1.557764 1496 14 23940081 23940081 A G intronic NGDN NA NA NA intronic ENSG00000129460 NA NA NA NA NA 14q11.2 NA NA NA NA rs1028587 0.71 0.71 0.702 0.70028 0.8489 0.6389 0.6916 0.6172 0.729 0.84 0.65 0.67 0.64 0.7698 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.084913 NA NA 0.825465 0.634589 NA 0.717 NA 1.555835 1497 14 23945366 23945366 A G intronic NGDN NA NA NA intronic ENSG00000129460 NA NA NA NA NA 14q11.2 NA NA NA NA rs2295706 0.71 0.71 0.723 0.700679 0.8489 0.6389 0.6916 0.6188 0.729 0.84 0.65 0.67 0.64 0.771 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515355 NA NA 0.825814 0.634816 NA 0.717 NA 1.554286 1497 16 16161976 16161976 G A intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs35604 0.82 0.82 0.821 0.782548 0.828 0.8125 0.781 0.8797 0.5746 0.82 0.77 0.76 0.9 0.7914 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717461 NA NA 0.826533 0.877783 NA 0.841 NA 1.554067 1497 1 9658465 9658465 T G intronic TMEM201 NA NA NA intronic ENSG00000188807 NA NA NA NA NA 1p36.22 NA NA NA NA rs9430181 0.78 0.78 0.753 0.773762 0.8141 0.7212 0.8948 0.7057 0.7924 0.81 0.74 0.89 0.73 0.8129 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694515 NA NA 0.820349 0.733318 NA 0.609 NA 1.552651 1497 7 106786952 106786952 T C intronic PRKAR2B NA NA NA intronic ENSG00000005249 NA NA NA NA NA 7q22.3 NA NA NA NA rs3729876 0.88 0.88 0.873 0.880192 0.8161 0.9157 0.8977 0.9395 0.817 0.81 0.93 0.87 0.95 0.8272 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278716 NA NA 0.80407 0.930322 NA 0.92 NA 1.55263 1497 2 29226559 29226559 C T intronic FAM179A NA NA NA intronic ENSG00000189350 NA NA NA NA NA 2p23.2 NA NA NA NA rs12619829 0.68 0.68 0.665 0.650359 0.8221 0.6677 0.7666 0.4228 0.681 0.81 0.65 0.78 0.46 0.7742 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151816 NA NA 0.856953 0.516393 NA 0.732 NA 1.546747 1497 12 16050808 16050808 T A intronic STRAP NA NA NA intronic ENSG00000023734 NA NA NA NA NA 12p12.3 NA NA NA NA rs10772879 0.69 0.69 0.661 0.670128 0.833 0.8552 0.634 0.2663 0.8834 0.83 0.85 0.66 0.29 0.7894 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.837544 1.837544 NA 0.831742 0.365166 NA 0.638 NA 1.545858 1497 3 125874388 125874388 C T intronic ALDH1L1 NA NA NA intronic ENSG00000144908 NA NA NA NA NA 3q21.3 NA NA NA NA rs2276731 0.79 0.79 0.785 0.819089 0.8111 0.7391 0.781 0.8487 0.8967 0.81 0.74 0.77 0.85 0.8304 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052547 NA NA 0.812863 0.847481 NA 0.826 NA 1.545637 1498 10 13158262 13158262 C T intronic OPTN NA NA NA intronic ENSG00000123240 NA NA NA NA NA 10p13 NA NA NA NA rs2244380 0.8 0.8 0.786 0.803914 0.8181 0.745 0.8631 0.829 0.774 0.82 0.71 0.85 0.81 0.8156 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041089 NA NA 0.821977 0.812982 NA 0.746 NA 1.544323 1498 7 150747746 150747746 A G intronic ASIC3 NA NA NA intronic ENSG00000213199 NA NA NA NA NA 7q36.1 NA NA NA NA rs2288645 0.87 0.87 0.848 0.846645 0.83 0.7728 0.8905 0.9448 0.7761 0.84 0.81 0.87 0.95 0.8248 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499456 NA NA 0.803488 0.924875 NA 0.812 NA 1.541712 1498 17 7979463 7979463 A G intronic ALOX12B NA NA NA intronic ENSG00000179477 NA NA NA NA NA 17p13.1 NA NA NA NA rs2289586 0.86 0.86 0.877 0.867212 0.8022 0.8224 0.8343 0.9713 0.863 0.81 0.85 0.83 0.97 0.8421 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818416 NA NA 0.814767 0.950522 NA 0.913 NA 1.540933 1498 19 51128856 51128856 A C intronic SYT3 NA NA NA intronic ENSG00000213023 NA NA NA NA NA 19q13.33 NA NA NA NA rs10426057 0.71 0.71 0.685 0.704073 0.835 0.3085 0.7853 0.8971 0.6585 0.84 0.3 0.79 0.91 0.7824 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338358 NA NA 0.842173 0.883795 NA 0.819 NA 1.540427 1498 7 55499058 55499058 A G UTR3 LANCL2 NM_018697:c.*45A>G NA NA UTR3 ENSG00000132434 ENST00000254770:c.*45A>G,ENST00000452107:c.*1378A>G NA NA NA NA 7p11.2 NA NA NA NA rs815988 0.96 0.96 0.972 0.96905 0.9215 1 0.9467 0.9955 0.9663 0.92 1 0.95 1 0.9441 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296946 NA NA 0.929419 0.984793 NA 1 NA 1.5383144 1498 3 138091701 138091701 G T intronic MRAS NA NA NA intronic ENSG00000158186 NA NA NA NA NA 3q22.3 NA NA NA NA rs1199333 0.89 0.89 0.899 0.884185 0.8191 0.9673 0.8631 0.9387 0.8067 0.83 0.97 0.83 0.93 0.8317 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.702937 NA NA 0.813953 0.898547 NA 0.891 NA 1.535247 1499 1 227288655 227288655 G A intronic CDC42BPA NA NA NA intronic ENSG00000143776 NA NA NA NA NA 1q42.13 NA NA NA NA rs2104863 0.83 0.83 0.83 0.834864 0.8111 0.872 0.8343 0.8366 0.819 0.81 0.89 0.84 0.8 0.8345 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355629 NA NA 0.824315 0.831589 NA 0.855 NA 1.530085 1499 8 139767349 139767349 T C intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs2318338 0.86 0.86 0.85 0.879593 0.7992 0.9762 0.889 0.8086 0.9519 0.79 0.98 0.88 0.81 0.8554 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457727 NA NA 0.815581 0.823877 NA 0.725 NA 1.529819 1499 21 35124253 35124253 A G intronic ITSN1 NA NA NA intronic ENSG00000205726,ENSG00000249209 NA NA NA NA NA 21q22.11 NA NA NA NA rs2834255 0.89 0.89 0.892 0.889776 0.826 0.9871 0.8775 0.8956 0.8558 0.82 0.99 0.87 0.89 0.8441 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007966 NA NA 0.80093 0.875624 NA 0.92 NA 1.52897 1499 8 2967639 2967639 G T intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs898512 0.8 0.8 0.78 0.809505 0.8141 0.9464 0.8501 0.5847 0.9387 0.8 0.96 0.86 0.58 0.8386 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334386 NA NA 0.818691 0.63525 NA 0.862 NA 1.528609 1499 5 150413406 150413406 A C intronic TNIP1 NA NA NA intronic ENSG00000145901 NA NA NA NA NA 5q33.1 NA NA NA NA rs2233305 0.78 0.78 0.741 0.747204 0.8201 0.9464 0.8415 0.5068 0.7249 0.82 0.94 0.81 0.5 0.8147 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.330467 NA NA 0.836744 0.585111 NA 0.594 NA 1.528456 1499 1 151402045 151402045 A G intronic POGZ NA NA NA intronic ENSG00000143442 NA NA NA NA NA 1q21.3 NA NA NA NA rs6587577 0.76 0.76 0.756 0.758986 0.8539 0.6825 0.6902 0.7534 0.7965 0.85 0.65 0.71 0.79 0.7931 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.632741 NA NA 0.82686 0.753064 NA 0.79 NA 1.52614 1499 16 75277344 75277344 A T intronic BCAR1 NA NA NA intronic ENSG00000050820 NA NA NA NA NA 16q23.1 NA NA NA NA rs4888363 0.85 0.85 0.827 0.855831 0.8151 0.9802 0.889 0.7148 0.9366 0.81 0.98 0.87 0.73 0.857 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636584 NA NA 0.802671 0.715844 NA 0.826 NA 1.525229 1499 18 56274514 56274514 A G intronic ALPK2 NA NA NA intronic ENSG00000198796 NA NA NA NA NA 18q21.32 NA NA NA NA rs6566986 0.91 0.91 0.921 0.936901 0.8191 1 0.902 0.9743 0.9673 0.82 1 0.9 0.97 0.8619 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.723123 1.723123 NA 0.793788 0.935657 NA 0.833 NA 1.525212 1500 2 160833188 160833188 A G intronic PLA2R1 NA NA NA intronic ENSG00000153246 NA NA NA NA NA 2q24.2 NA NA NA NA rs2715918 0.86 0.86 0.858 0.819888 0.828 0.8611 0.8588 0.9062 0.6247 0.82 0.87 0.87 0.91 0.8154 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384591 NA NA 0.83186 0.88266 NA 0.797 NA 1.52474 1500 15 31244263 31244263 C T intronic MTMR10 NA NA NA intronic ENSG00000166912 NA NA NA NA NA 15q13.3 NA NA NA NA rs2955789 0.83 0.83 0.81 0.834265 0.8101 0.9782 0.8444 0.7073 0.8753 0.81 0.97 0.8 0.69 0.8418 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.060239 NA NA 0.82778 0.723691 NA 0.877 NA 1.52032 1500 11 11989899 11989899 T C intronic DKK3 NA NA NA intronic ENSG00000050165 NA NA NA NA NA 11p15.3 NA NA NA NA rs2291599 0.84 0.84 0.803 0.857228 0.831 0.7113 0.9222 0.9493 0.864 0.82 0.71 0.91 0.95 0.8301 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212404 NA NA 0.818817 0.932303 NA 0.92 NA 1.520083 1500 8 62475276 62475276 C T intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs3802286 0.76 0.76 0.747 0.766973 0.828 0.6151 0.7695 0.7776 0.8446 0.84 0.62 0.81 0.76 0.816 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.916414 NA NA 0.83907 0.777349 NA 0.833 NA 1.51693 1500 2 86359405 86359405 G T intronic PTCD3 NA NA NA intronic ENSG00000132300 NA NA NA NA NA 2p11.2 NA NA NA NA rs1559515 0.69 0.69 0.656 0.678115 0.84 0.6567 0.8271 0.3873 0.8211 0.84 0.67 0.85 0.36 0.7985 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36122 NA NA 0.845814 0.465502 NA 0.71 NA 1.515686 1501 17 17035036 17035036 A G intronic MPRIP NA NA NA intronic ENSG00000133030 NA NA NA NA NA 17p11.2 NA NA NA NA rs2271520 0.88 0.88 0.885 0.874002 0.836 0.994 0.8487 0.8328 0.863 0.84 0.99 0.85 0.83 0.8445 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403394 NA NA 0.806163 0.832274 NA 0.783 NA 1.513337 1501 11 110453009 110453009 G A intronic ARHGAP20 NA NA NA intronic ENSG00000137727 NA NA NA NA NA 11q23.1 NA NA NA NA rs4079590 0.74 0.74 0.725 0.736222 0.8171 0.8254 0.8804 0.4932 0.7873 0.8 0.83 0.88 0.45 0.8213 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745415 NA NA 0.848883 0.574057 NA 0.659 NA 1.512717 1501 9 33270748 33270748 G T intronic CHMP5 NA NA NA intronic ENSG00000086065 NA NA NA NA NA 9p13.3 NA NA NA NA rs831271 0.79 0.79 0.776 0.792931 0.8201 0.8383 0.8213 0.7224 0.7935 0.83 0.83 0.79 0.71 0.8273 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102163 NA NA 0.840349 0.736269 NA 0.812 NA 1.512251 1501 5 36168582 36168582 T C intronic SKP2 NA NA NA intronic ENSG00000145604 NA NA NA NA NA 5p13.2 NA NA NA NA rs7736391 0.61 0.61 0.591 0.580471 0.8569 0.4187 0.6758 0.3661 0.6851 0.87 0.39 0.71 0.39 0.7546 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88585 NA NA 0.877558 0.443259 NA 0.659 NA 1.510942 1501 12 57883801 57883801 G A intronic MARS NA NA NA intronic ENSG00000166986 NA NA NA NA NA 12q13.3 NA NA NA NA rs899653 0.66 0.66 0.622 0.627396 0.835 0.7232 0.8055 0.1702 0.8067 0.83 0.72 0.8 0.21 0.7882 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.756443 NA NA 0.86593 0.276214 NA 0.609 NA 1.51087 1501 5 137241856 137241856 T C intronic PKD2L2 NA NA NA intronic ENSG00000078795 NA NA NA NA NA 5q31.2 NA NA NA NA rs700605 0.8 0.8 0.802 0.802716 0.8201 0.9534 0.8357 0.5651 0.9274 0.83 0.94 0.81 0.6 0.8343 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.407123 1.407123 NA 0.838099 0.6105 NA 0.732 NA 1.507501 1501 11 110452999 110452999 C A intronic ARHGAP20 NA NA NA intronic ENSG00000137727 NA NA NA NA NA 11q23.1 NA NA NA NA rs2008772 0.76 0.76 0.745 0.763778 0.8171 0.8294 0.8847 0.5681 0.82 0.8 0.84 0.88 0.52 0.8299 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803912 NA NA 0.847604 0.632213 NA 0.696 NA 1.505396 1501 20 42814931 42814931 T C intronic JPH2 NA NA NA intronic ENSG00000149596 NA NA NA NA NA 20q13.12 NA NA NA NA rs6031442 0.86 0.86 0.849 0.862819 0.8231 0.8194 0.889 0.9425 0.8221 0.83 0.83 0.86 0.92 0.8472 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939229 NA NA 0.824419 0.929609 NA 0.812 NA 1.505281 1501 7 107875170 107875170 T C intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs1269633 0.86 0.86 0.86 0.844649 0.829 0.9812 0.8804 0.7693 0.7965 0.84 0.98 0.86 0.77 0.8413 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.758629 1.758629 NA 0.824651 0.783379 NA 0.819 NA 1.505049 1502 6 35258539 35258539 C A intronic ZNF76 NA NA NA UTR3 ENSG00000065029 ENST00000229405:c.*228C>A NA NA NA NA 6p21.31 NA NA NA NA rs763157 0.91 0.91 0.907 0.921126 0.8787 0.9891 0.9092 0.882 0.956 0.88 0.99 0.9 0.89 0.9039 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674641 NA NA 0.879651 0.876759 NA 0.841 NA 1.5044157 1502 13 20038584 20038584 A G intronic TPTE2 NA NA NA intronic ENSG00000132958 NA NA NA NA NA 13q12.11 NA NA NA NA rs7339103 0.76 0.76 0.719 0.713259 0.8419 0.9554 0.7853 0.3351 0.7914 0.86 0.98 0.75 0.37 0.8123 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287426 NA NA 0.845044 0.431911 NA 0.732 NA 1.500756 1502 19 1032369 1032369 C T intronic CNN2 NA NA NA intronic ENSG00000064666 NA NA NA NA NA 19p13.3 NA NA NA NA rs10401325 0.78 0.78 0.777 0.770966 0.833 0.8948 0.7738 0.5318 0.9008 0.84 0.9 0.82 0.52 0.8256 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263502 NA NA 0.845465 0.551521 NA 0.79 NA 1.495935 1502 7 104800939 104800939 C T intronic SRPK2 NA NA NA intronic ENSG00000135250 NA NA NA NA NA 7q22.3 NA NA NA NA rs4730071 0.6 0.6 0.543 0.595248 0.8638 0.3681 0.7507 0.3737 0.7423 0.88 0.31 0.74 0.38 0.7658 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645296 NA NA 0.875116 0.455061 NA 0.522 NA 1.495284 1503 3 107938240 107938240 G C intronic IFT57 NA NA NA intronic ENSG00000114446 NA NA NA NA NA 3q13.13 NA NA NA NA rs1289754 0.68 0.68 0.683 0.668131 0.8628 0.3879 0.7378 0.6823 0.6881 0.87 0.34 0.77 0.7 0.7814 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302013 NA NA 0.861047 0.702905 NA 0.775 NA 1.494753 1503 15 42564369 42564369 C T intronic TMEM87A NA NA NA intronic ENSG00000103978 NA NA NA NA NA 15q15.1 NA NA NA NA rs4244587 0.63 0.63 0.698 0.64357 0.8648 0.8413 0.6254 0.3396 0.636 0.75 0.78 0.6 0.28 0.7835 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553424 NA NA 0.857343 0.441002 NA NA NA 1.494357 1503 8 107754583 107754583 T G intronic OXR1 NA NA NA intronic ENSG00000164830 NA NA NA NA NA 8q23.1 NA NA NA NA rs1784468 0.9 0.9 0.91 0.910942 0.834 0.9534 0.902 0.9644 0.8804 0.83 0.95 0.91 0.96 0.8581 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.043509 NA NA 0.816163 0.936223 NA 0.891 NA 1.491737 1504 9 132678195 132678195 G A intronic FNBP1 NA NA NA intronic ENSG00000187239 NA NA NA NA NA 9q34.11 NA NA NA NA rs7867211 0.82 0.82 0.798 0.788139 0.8439 0.8938 0.8689 0.6634 0.7331 0.86 0.89 0.87 0.66 0.8239 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.518276 1.518276 NA 0.849066 0.706083 NA 0.848 NA 1.483134 1504 3 64527465 64527465 C T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs1036917 NA NA 0.718 0.563299 0.833 0.4742 0.5548 0.2504 0.8067 NA NA NA NA 0.727 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.135222 NA NA 0.958256 0.542896 NA 0.543 NA 1.481744 1504 9 94456643 94456643 G C intergenic MIR3910-1,ROR2 dist=58000;dist=28235 NA NA UTR3 ENSG00000169071 ENST00000375715:c.*1C>G NA NA NA NA 9q22.31 NA NA NA NA rs923771 0.84 0.84 0.825 0.80611 0.7873 0.9167 0.8674 0.8033 0.6718 0.8 0.93 0.84 0.79 0.7842 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.323437 NA NA 0.781203 0.816151 NA 0.754 NA 1.4806304 1504 1 176857347 176857347 A G intronic ASTN1 NA NA NA intronic ENSG00000152092 NA NA NA NA NA 1q25.2 NA NA NA NA rs2072935 0.83 0.83 0.82 0.829073 0.8588 0.8006 0.7233 0.8601 0.8609 0.85 0.81 0.78 0.86 0.827 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586226 NA NA 0.833605 0.874035 NA 0.884 NA 1.480595 1504 4 55161254 55161254 C T intronic PDGFRA NA NA NA intronic ENSG00000134853,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs3733540 0.74 0.74 0.731 0.699081 0.8539 0.8274 0.7075 0.438 0.7546 0.85 0.83 0.74 0.46 0.8021 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.851502 NA NA 0.863488 0.486609 NA 0.659 NA 1.480512 1504 11 61205434 61205434 G A intronic SDHAF2 NA NA NA intronic ENSG00000167985,ENSG00000256591 NA NA NA NA NA 11q12.2 NA NA NA NA rs879647 0.76 0.76 0.716 0.718051 0.8529 0.9712 0.8372 0.292 0.8098 0.86 0.97 0.84 0.29 0.8195 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.953606 NA NA 0.847755 0.371935 NA 0.659 NA 1.479845 1504 7 104785779 104785779 T G intronic SRPK2 NA NA NA intronic ENSG00000135250 NA NA NA NA NA 7q22.3 NA NA NA NA rs7780887 0.62 0.62 0.571 0.629792 0.8648 0.4425 0.7579 0.4251 0.7669 0.88 0.37 0.75 0.43 0.7823 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139415 NA NA 0.875116 0.489101 NA 0.572 NA 1.477784 1504 13 110861785 110861785 C G intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs645114 0.84 0.84 0.839 0.861222 0.8419 0.7867 0.8674 0.8918 0.9121 0.83 0.77 0.88 0.92 0.8452 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988544 NA NA 0.836668 0.876249 NA 0.891 NA 1.476232 1504 9 134465398 134465398 T C intronic RAPGEF1 NA NA NA intronic ENSG00000107263 NA NA NA NA NA 9q34.13 NA NA NA NA rs3818581 0.84 0.84 0.825 0.85004 0.8449 0.7659 0.8386 0.9501 0.8149 0.84 0.78 0.81 0.93 0.8496 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66916 NA NA 0.830338 0.93251 NA 0.899 NA 1.475162 1505 8 139631650 139631650 A G intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs7009396 0.75 0.75 0.745 0.741613 0.8688 0.7788 0.7421 0.5439 0.8395 0.86 0.76 0.74 0.58 0.8032 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007732 NA NA 0.857558 0.600091 NA 0.645 NA 1.470442 1505 13 113792754 113792754 T C intronic F10 NA NA NA intronic ENSG00000126218 NA NA NA NA NA 13q34 NA NA NA NA rs2251102 0.82 0.82 0.789 0.802716 0.8499 0.9018 0.8948 0.6225 0.8303 0.86 0.89 0.88 0.65 0.8359 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064833 NA NA 0.845283 0.671533 NA 0.855 NA 1.468917 1505 7 98513300 98513300 C T intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs1859662 0.67 0.67 0.64 0.672524 0.8569 0.7569 0.7579 0.2466 0.911 0.86 0.74 0.73 0.26 0.8074 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251027 NA NA 0.870116 0.351112 NA 0.652 NA 1.465584 1506 19 46329438 46329438 G A intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs7246155 0.86 0.86 0.861 0.855032 0.8419 0.9048 0.7666 0.8926 0.8292 0.84 0.91 0.8 0.88 0.8389 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383217 NA NA 0.854249 0.8925 NA 0.913 NA 1.464951 1506 4 8062689 8062689 T C intronic ABLIM2 NA NA NA intronic ENSG00000163995 NA NA NA NA NA 4p16.1 NA NA NA NA rs6811028 0.82 0.82 0.908 0.917332 0.8429 0.9931 0.9121 0.8971 0.9468 0.76 0.87 0.83 0.84 0.8753 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005081 NA NA 0.818344 0.879261 NA 0.232 NA 1.463456 1506 14 64520416 64520416 G A intronic SYNE2 NA NA NA intronic ENSG00000054654 NA NA NA NA NA 14q23.2 NA NA NA NA rs10138253 0.73 0.73 0.7 0.677716 0.8638 0.7778 0.7954 0.3464 0.7474 0.86 0.81 0.79 0.38 0.8092 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017069 NA NA 0.864713 0.470557 NA 0.696 NA 1.462287 1506 19 46332194 46332194 C T intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs3745929 0.86 0.86 0.857 0.854832 0.8419 0.9048 0.7666 0.8926 0.8282 0.84 0.91 0.8 0.88 0.8446 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101674 NA NA 0.853023 0.892419 NA 0.928 NA 1.460477 1506 7 98500956 98500956 C T intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs7777927 0.67 0.67 0.634 0.668331 0.8598 0.7659 0.7622 0.2179 0.9131 0.86 0.75 0.74 0.23 0.8103 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.118998 NA NA 0.873023 0.329778 NA 0.652 NA 1.456877 1506 1 35561510 35561510 G A intronic ZMYM1 NA NA NA intronic ENSG00000197056 NA NA NA NA NA 1p34.3 NA NA NA NA rs2101973 0.57 0.57 0.534 0.557508 0.8936 0.3522 0.6254 0.2496 0.7914 0.9 0.34 0.68 0.26 0.762 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.375799 NA NA 0.88754 0.355525 NA 0.645 NA 1.45686 1506 19 46327185 46327185 G C intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs7252416 0.86 0.86 0.858 0.854832 0.8419 0.9048 0.7666 0.8926 0.8282 0.84 0.91 0.8 0.88 0.8454 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237436 NA NA 0.856648 0.895629 NA 0.928 NA 1.456052 1507 3 57140108 57140108 G A intronic IL17RD NA NA NA intronic ENSG00000144730 NA NA NA NA NA 3p14.3 NA NA NA NA rs2035654 0.71 0.71 0.679 0.736821 0.8618 0.5119 0.8501 0.6172 0.9213 0.87 0.51 0.86 0.58 0.8248 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368434 NA NA 0.859535 0.659101 NA 0.754 NA 1.453865 1507 9 136561303 136561303 A T intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs2502739 0.83 0.83 0.811 0.763978 0.8728 0.9375 0.8732 0.6112 0.6022 0.87 0.94 0.86 0.62 0.8172 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233075 NA NA 0.856279 0.652292 NA 0.739 NA 1.453721 1507 2 79350347 79350347 A G UTR3 REG1A NM_002909:c.*6A>G NA NA UTR3 ENSG00000115386 ENST00000233735:c.*6A>G NA NA NA NA 2p12 NA NA NA NA rs12228 0.98 0.98 0.985 0.986621 0.9563 1 0.9798 0.997 0.9949 0.96 1 0.98 1 0.9691 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20971 NA NA 0.956163 0.993645 NA 0.92 NA 1.4517704 1507 7 47840510 47840510 T C intronic C7orf69,PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000136275,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs1466203 0.85 0.85 0.851 0.841054 0.8439 0.9226 0.8141 0.7988 0.8303 0.84 0.93 0.85 0.79 0.8465 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836504 NA NA 0.858107 0.818656 NA 0.877 NA 1.451493 1508 10 15729923 15729923 C T intronic ITGA8 NA NA NA intronic ENSG00000077943 NA NA NA NA NA 10p13 NA NA NA NA rs1954181 0.77 0.77 0.746 0.758986 0.8588 0.7877 0.8862 0.5234 0.8548 0.86 0.78 0.86 0.54 0.8353 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.256064 NA NA 0.86186 0.592374 NA 0.819 NA 1.44404 1508 2 90108778 90108778 G T intergenic MIR4436A,LOC654342 dist=996810;dist=1715931 NA NA intronic ENSG00000211626 NA NA NA NA NA 2p11.2 NA NA NA NA rs859745 0.7 0.7 0.642 0.680312 0.7455 0.8601 0.8127 0.3306 0.8067 0.73 0.89 0.81 0.33 0.7441 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.171217 NA NA 0.733832 0.378656 NA 0.63 NA 1.4432347 1508 11 1217228 1217228 T C intergenic MUC2,MUC5B dist=112811;dist=27067 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=54867;dist=27068 NA NA NA NA 11p15.5 NA NA NA NA rs28592983 0.61 0.61 0.567 0.639976 0.6292 0.3532 0.6571 0.9183 0.5583 0.63 0.28 0.64 0.93 0.6118 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289973 NA NA 0.652086 0.882454 NA 0.543 NA 1.4402474 1508 12 105534025 105534025 G A intronic KIAA1033 NA NA NA intronic ENSG00000136051 NA NA NA NA NA 12q23.3 NA NA NA NA rs1196808 0.91 0.91 0.914 0.934105 0.8499 1 0.9179 0.9327 0.9663 0.85 1 0.91 0.92 0.8811 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969316 NA NA 0.829161 0.928218 NA 0.935 NA 1.439839 1508 22 22782394 22782394 A G intergenic LOC96610,ZNF280B dist=105070;dist=56378 NA NA downstream ENSG00000211654 NA NA NA NA NA 22q11.22 NA NA NA NA rs165704 0.69 0.69 0.71 0.676318 0.6909 0.6111 0.5086 0.8631 0.5951 0.7 0.62 0.56 0.86 0.6717 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.76852 NA NA 0.69764 0.82078 NA 0.623 NA 1.43976 1508 12 13142174 13142174 C G intronic HEBP1 NA NA NA intronic ENSG00000013583 NA NA NA NA NA 12p13.1 NA NA NA NA rs850918 0.77 0.77 0.722 0.742612 0.8499 0.9792 0.8761 0.295 0.8988 0.86 0.98 0.87 0.33 0.844 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406904 NA NA 0.869186 0.381752 NA 0.674 NA 1.436914 1508 13 33635939 33635939 T A intronic KL NA NA NA intronic ENSG00000133116 NA NA NA NA NA 13q13.1 NA NA NA NA rs650439 0.78 0.78 0.757 0.757388 0.8787 0.6081 0.8473 0.7035 0.7955 0.89 0.61 0.85 0.74 0.818 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636049 NA NA 0.868023 0.731502 NA 0.804 NA 1.435277 1509 2 71891361 71891361 C T intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs2303599 0.75 0.75 0.735 0.744808 0.8728 0.6935 0.6772 0.6747 0.8088 0.87 0.68 0.73 0.65 0.8202 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798918 NA NA 0.872093 0.6936 NA 0.703 NA 1.434907 1509 2 56216052 56216052 G A downstream MIR216A NA NA NA ncRNA_intronic ENSG00000226702,ENSG00000272180 NA NA NA NA NA 2p16.1 NA NA NA NA rs10865292 0.91 0.91 0.923 0.91853 0.9165 0.8651 0.9135 0.9614 0.9213 0.92 0.85 0.9 0.98 0.9087 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414172 NA NA 0.907035 0.961416 NA 0.862 NA 1.4344316 1509 1 153320334 153320334 T C intronic PGLYRP4 NA NA NA intronic ENSG00000163218 NA NA NA NA NA 1q21.3 NA NA NA NA rs3006457 0.85 0.85 0.84 0.84365 0.8767 0.9058 0.866 0.7451 0.863 0.89 0.89 0.86 0.73 0.8435 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240541 NA NA 0.851128 0.767136 NA 0.761 NA 1.428672 1509 15 66821174 66821174 G C intronic ZWILCH NA NA NA intronic ENSG00000174442 NA NA NA NA NA 15q22.31 NA NA NA NA rs6494580 0.9 0.9 0.901 0.927117 0.8668 0.9335 0.879 0.9909 0.9305 0.86 0.92 0.86 0.99 0.8686 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015446 NA NA 0.836474 0.967969 NA 0.804 NA 1.428126 1510 16 27777831 27777831 A G intronic KIAA0556 NA NA NA intronic ENSG00000047578 NA NA NA NA NA 16p12.1 NA NA NA NA rs8043555 0.88 0.88 0.886 0.907149 0.8509 0.876 0.7853 0.9955 0.9642 0.86 0.87 0.8 0.99 0.8683 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.249497 1.249497 NA 0.858023 0.969504 NA 0.928 NA 1.422777 1510 15 64706259 64706259 G A intronic TRIP4 NA NA NA intronic ENSG00000103671 NA NA NA NA NA 15q22.31 NA NA NA NA rs2046356 0.78 0.78 0.735 0.692093 0.8926 0.9514 0.8948 0.3336 0.5593 0.9 0.95 0.88 0.33 0.8029 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.835887 3.835887 NA 0.882442 0.418066 NA 0.674 NA 1.422058 1510 10 5978411 5978411 T C intronic FBXO18 NA NA NA intronic ENSG00000134452 NA NA NA NA NA 10p15.1 NA NA NA NA rs646406 0.87 0.87 0.862 0.829872 0.8588 0.8512 0.9236 0.8177 0.728 0.87 0.84 0.93 0.86 0.8536 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286578 NA NA 0.866163 0.833409 NA 0.848 NA 1.421437 1510 10 119029744 119029744 G A intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363272 0.75 0.75 0.745 0.722843 0.8797 0.5972 0.781 0.6558 0.7403 0.88 0.62 0.79 0.67 0.819 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697468 NA NA 0.881163 0.69655 NA 0.826 NA 1.420137 1511 11 1215698 1215698 A G intergenic MUC2,MUC5B dist=111281;dist=28597 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=53337;dist=28598 NA NA NA NA 11p15.5 NA NA NA NA rs28452143 0.58 0.58 0.53 0.60024 0.6322 0.3552 0.6455 0.7693 0.5593 0.64 0.28 0.63 0.78 0.6363 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.89577 NA NA 0.651867 0.769409 NA 0.428 NA 1.4129664 1511 5 160097429 160097429 T C intronic ATP10B NA NA NA intronic ENSG00000118322 NA NA NA NA NA 5q34 NA NA NA NA rs3828604 0.87 0.87 0.88 0.878195 0.8658 0.8938 0.7363 0.9327 0.9018 0.88 0.9 0.77 0.91 0.8566 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.192711 NA NA 0.86567 0.930761 NA 0.906 NA 1.41193 1511 7 158566138 158566138 T C intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA NA NA NA rs842447 0.76 0.76 0.753 0.730431 0.8857 0.5258 0.8141 0.7292 0.7239 0.89 0.57 0.85 0.72 0.8217 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821144 NA NA 0.880814 0.755107 NA 0.812 NA 1.411786 1511 5 160097453 160097453 A C intronic ATP10B NA NA NA intronic ENSG00000118322 NA NA NA NA NA 5q34 NA NA NA NA rs1990888 0.87 0.87 0.882 0.877796 0.8658 0.8938 0.7363 0.9327 0.8998 0.88 0.9 0.77 0.91 0.8566 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448248 NA NA 0.866247 0.93035 NA 0.913 NA 1.411353 1512 1 57395251 57395251 T C intronic C8B NA NA NA intronic ENSG00000021852 NA NA NA NA NA 1p32.2 NA NA NA NA rs605648 0.87 0.87 0.85 0.880391 0.8608 0.9306 0.8905 0.7837 0.9724 0.86 0.92 0.89 0.8 0.8822 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725183 NA NA 0.855233 0.779846 NA 0.804 NA 1.401767 1512 5 466811 466811 T C intronic EXOC3 NA NA NA intronic ENSG00000180104 NA NA NA NA NA 5p15.33 NA NA NA NA rs2434697 0.78 0.78 0.777 0.791134 0.8678 0.5694 0.804 0.9304 0.7434 0.86 0.54 0.82 0.92 0.8464 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704567 NA NA 0.884866 0.91898 NA 0.848 NA 1.400934 1512 12 123339712 123339712 A G intronic HIP1R NA NA NA intronic ENSG00000130787 NA NA NA NA NA 12q24.31 NA NA NA NA rs2292138 0.82 0.82 0.784 0.785343 0.8648 0.7639 0.928 0.73 0.6994 0.87 0.75 0.91 0.74 0.841 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229615 NA NA 0.893364 0.765241 NA 0.848 NA 1.400836 1512 20 42302371 42302371 C T intronic MYBL2 NA NA NA intronic ENSG00000101057 NA NA NA NA NA 20q13.12 NA NA NA NA rs826950 0.79 0.79 0.779 0.776558 0.8976 0.7956 0.8055 0.6256 0.816 0.89 0.77 0.82 0.64 0.829 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312846 NA NA 0.873179 0.667808 ID=COSN166531;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) 0.819 NA 1.400221 1512 19 54627097 54627097 T C intronic PRPF31 NA NA NA ncRNA_exonic ENSG00000237017 NA NA NA NA NA 19q13.42 NA NA NA NA rs2303557 0.92 0.92 0.921 0.911142 0.9901 0.7034 0.8905 0.9985 0.9407 0.99 0.75 0.93 0.99 0.9514 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143864 NA NA 0.991853 0.995678 NA 0.971 NA 1.3999803 1512 11 6416959 6416959 C T intronic APBB1 NA NA NA intronic ENSG00000166313 NA NA NA NA NA 11p15.4 NA NA NA NA rs1800606 0.91 0.91 0.912 0.877995 0.8797 0.9871 0.8429 0.9168 0.7362 0.89 0.99 0.84 0.88 0.8623 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251377 NA NA 0.860568 0.922535 NA 0.906 NA 1.397432 1513 7 89927191 89927191 T A intronic C7orf63 NA NA NA intronic ENSG00000105792 NA NA NA NA NA 7q21.13 NA NA NA NA rs6465256 0.94 0.94 0.94 0.947684 0.8688 0.999 0.8991 0.9887 0.955 0.88 1 0.89 0.98 0.892 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847702 NA NA 0.845346 0.968344 NA 0.92 NA 1.393854 1513 7 89901039 89901039 A C intronic C7orf63 NA NA NA intronic ENSG00000105792 NA NA NA NA NA 7q21.13 NA NA NA NA rs10280053 0.94 0.94 0.945 0.947883 0.8688 0.999 0.9006 0.9887 0.955 0.88 1 0.89 0.98 0.8924 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.263214 NA NA 0.84515 0.967967 NA 0.92 NA 1.39365 1513 10 135020315 135020315 T C intronic KNDC1 NA NA NA intronic ENSG00000171798 NA NA NA NA NA 10q26.3 NA NA NA NA rs3008375 0.78 0.78 0.777 0.762979 0.8897 0.7282 0.8242 0.6853 0.7301 0.88 0.75 0.82 0.64 0.829 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639875 NA NA 0.887791 0.722424 NA 0.848 NA 1.393509 1513 12 51740388 51740388 C A intronic CELA1 NA NA NA intronic ENSG00000139610 NA NA NA NA NA 12q13.13 NA NA NA NA rs907354 0.78 0.78 0.937 0.888778 0.9443 0.8671 0.902 0.7958 0.9703 0.87 0.71 0.76 0.72 0.6922 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06384 NA NA 0.973919 0.845839 NA 0.551 NA 1.389581 1513 10 5924942 5924942 C G intronic ANKRD16 NA NA NA intronic ENSG00000134461 NA NA NA NA NA 10p15.1 NA NA NA NA rs617165 0.88 0.88 0.884 0.865815 0.8648 0.8472 0.9308 0.91 0.7802 0.87 0.84 0.94 0.9 0.8716 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309447 NA NA 0.876512 0.916024 NA 0.855 NA 1.387088 1513 14 21488046 21488046 G C intronic NDRG2 NA NA NA intronic ENSG00000165795 NA NA NA NA NA 14q11.2 NA NA NA NA rs1243448 0.92 0.92 0.914 0.910743 0.8668 0.998 0.8602 0.9274 0.8793 0.87 1 0.85 0.94 0.8855 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122707 NA NA 0.862093 0.904448 NA 0.986 NA 1.385607 1514 12 7069620 7069620 T C intronic PTPN6 NA NA NA intronic ENSG00000111679 NA NA NA NA NA 12p13.31 NA NA NA NA rs759052 0.79 0.79 0.768 0.778155 0.8847 0.8661 0.853 0.5106 0.8865 0.89 0.86 0.83 0.54 0.8531 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0914 NA NA 0.879383 0.592515 NA 0.688 NA 1.382817 1514 5 176737720 176737720 A G intronic MXD3 NA NA NA intronic ENSG00000213347 NA NA NA NA NA 5q35.3 NA NA NA NA rs13190036 0.8 0.8 0.818 0.792732 0.8926 0.4931 0.7939 0.9939 0.726 0.89 0.49 0.81 0.99 0.8347 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922867 NA NA 0.890814 0.976623 ID=COSN167650;OCCURENCE=1(large_intestine) 0.862 NA 1.381886 1514 5 482653 482653 T C intronic SLC9A3 NA NA NA intronic ENSG00000066230 NA NA NA NA NA 5p15.33 NA NA NA NA rs3777230 0.79 0.79 0.777 0.802716 0.8757 0.5873 0.8141 0.9372 0.7597 0.87 0.55 0.83 0.92 0.8527 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458876 NA NA 0.89 0.925749 NA 0.848 NA 1.3816 1514 12 15656832 15656832 T A intronic PTPRO NA NA NA intronic ENSG00000151490 NA NA NA NA NA 12p12.3 NA NA NA NA rs4764199 0.78 0.78 0.765 0.786342 0.8857 0.626 0.879 0.7602 0.819 0.88 0.59 0.88 0.76 0.8496 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296332 NA NA 0.886522 0.7825 NA 0.797 NA 1.378178 1514 17 45896478 45896478 T C intronic OSBPL7 NA NA NA intronic ENSG00000006025 NA NA NA NA NA 17q21.32 NA NA NA NA rs878171 0.75 0.75 0.735 0.734026 0.8897 0.7272 0.7507 0.587 0.7679 0.91 0.68 0.76 0.58 0.8343 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820897 NA NA 0.899186 0.653881 NA 0.783 NA 1.376814 1514 19 46318963 46318963 C A intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA NA NA rs3810331 0.88 0.88 0.868 0.865815 0.8777 0.8948 0.7867 0.9047 0.8272 0.88 0.91 0.82 0.89 0.8637 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404002 NA NA 0.881805 0.906633 NA 0.138 NA 1.376795 1515 8 22020294 22020294 C A intronic SFTPC NA NA NA intronic ENSG00000168484 NA NA NA NA NA 8p21.3 NA NA NA NA rs2070684 0.7 0.7 0.676 0.676318 0.8897 0.7123 0.6988 0.3487 0.8466 0.89 0.7 0.75 0.37 0.8208 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.178101 NA NA 0.916313 0.463273 NA 0.674 NA 1.373187 1515 5 230980 230980 A G intronic SDHA NA NA NA intronic ENSG00000073578 NA NA NA NA NA 5p15.33 NA NA NA NA rs2288461 0.86 0.86 0.847 0.858427 0.8688 0.628 0.8689 0.9879 0.9029 0.88 0.69 0.88 0.99 0.881 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195164 NA NA 0.881744 0.972764 NA 0.906 NA 1.368456 1515 10 135204799 135204799 C T intronic PAOX NA NA NA intronic ENSG00000148832,ENSG00000254536 NA NA NA NA NA 10q26.3 NA NA NA NA rs6537600 0.86 0.86 0.839 0.846246 0.8777 0.9812 0.8948 0.68 0.865 0.89 0.97 0.86 0.67 0.8813 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329641 NA NA 0.87407 0.732637 NA 0.906 NA 1.36693 1516 4 69687964 69687964 G A intronic UGT2B10 NA NA NA intronic ENSG00000109181 NA NA NA NA NA 4q13.2 NA NA NA NA rs861340 0.7 0.7 0.663 0.67472 0.8996 0.6954 0.804 0.2579 0.8937 0.9 0.72 0.82 0.27 0.8393 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742938 NA NA 0.899884 0.392095 NA 0.529 NA 1.361216 1516 6 47681494 47681494 T C intronic GPR115 NA NA NA intronic ENSG00000153294 NA NA NA NA NA 6p12.3 NA NA NA NA rs6916562 0.83 0.83 0.834 0.826278 0.8877 0.8661 0.9006 0.6823 0.864 0.87 0.87 0.9 0.68 0.8648 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076955 NA NA 0.886327 0.706043 NA 0.804 NA 1.361173 1516 1 20964328 20964328 A G intronic PINK1 NA NA NA intronic ENSG00000158828 NA NA NA NA NA 1p36.12 NA NA NA NA rs2298298 0.83 0.83 0.813 0.821885 0.8976 0.8165 0.8026 0.7405 0.8732 0.89 0.82 0.84 0.74 0.8623 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882095 NA NA 0.880116 0.771675 NA 0.812 NA 1.359984 1516 8 51363078 51363078 C T intronic SNTG1 NA NA NA intronic ENSG00000147481 NA NA NA NA NA 8q11.21 NA NA NA NA rs7817955 0.85 0.85 0.849 0.841454 0.8767 0.879 0.8228 0.8086 0.8241 0.88 0.85 0.83 0.82 0.8671 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197317 NA NA 0.900326 0.822969 NA 0.913 NA 1.355874 1516 9 130670652 130670652 A G UTR3 ST6GALNAC4 NM_175039:c.*19T>C,NM_175040:c.*19T>C NA NA UTR3 ENSG00000136840 ENST00000335791:c.*19T>C,ENST00000343609:c.*19T>C NA NA NA NA 9q34.11 NA NA NA NA rs1043012 0.95 0.95 0.926 0.934904 0.999 0.994 0.9798 0.7708 0.998 1 0.99 0.98 0.78 0.9806 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.979743 NA NA 0.998486 0.811647 NA 0.957 NA 1.3552474 1517 8 24211278 24211278 C T intronic ADAM28 NA NA NA ncRNA_intronic ENSG00000253535 NA NA NA NA NA 8p21.2 NA NA NA NA rs7815643 0.99 0.99 0.987 0.965855 0.999 1 0.9914 0.9168 0.9448 1 1 0.99 0.95 0.9863 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189458 NA NA 0.99593 0.941443 NA 0.993 NA 1.3521033 1517 2 201515939 201515939 T C intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs868810 0.79 0.79 0.807 0.79353 0.8917 0.506 0.8199 0.947 0.7628 0.88 0.53 0.84 0.93 0.8513 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538302 NA NA 0.906512 0.929187 ID=COSN166379;OCCURENCE=2(large_intestine) 0.746 NA 1.350488 1518 9 107566877 107566877 C A intronic ABCA1 NA NA NA intronic ENSG00000165029 NA NA NA NA NA 9q31.1 NA NA NA NA rs2777801 0.9 0.9 0.897 0.88119 0.8877 0.997 0.9135 0.7784 0.8712 0.88 1 0.9 0.83 0.8842 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061058 NA NA 0.88407 0.800045 NA 0.855 NA 1.34403 1518 9 4844507 4844507 G T intronic RCL1 NA NA NA intronic ENSG00000120158 NA NA NA NA NA 9p24.1 NA NA NA NA rs295259 0.92 0.92 0.903 0.908946 0.8827 0.996 0.9179 0.885 0.8722 0.89 1 0.92 0.88 0.8982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421569 NA NA 0.875465 0.90059 NA 0.928 NA 1.343635 1518 6 168468186 168468186 G T intronic FRMD1 NA NA NA intronic ENSG00000153303 NA NA NA NA NA 6q27 NA NA NA NA rs6906979 0.87 0.87 0.872 0.874401 0.8887 0.8413 0.8184 0.879 0.9274 0.89 0.87 0.8 0.91 0.8803 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.026292 NA NA 0.889692 0.880058 NA 0.92 NA 1.341308 1518 9 4850421 4850421 C G intronic RCL1 NA NA NA intronic ENSG00000120158 NA NA NA NA NA 9p24.1 NA NA NA NA rs455864 0.93 0.93 0.93 0.915735 0.8827 0.996 0.9193 0.9077 0.8753 0.89 1 0.93 0.94 0.9001 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344842 NA NA 0.877024 0.904974 NA 0.928 NA 1.340176 1518 1 201187828 201187828 T C intronic IGFN1 NA NA NA intronic ENSG00000163395 NA NA NA NA NA 1q32.1 NA NA NA NA rs3738268 0.93 0.93 0.921 0.929513 0.8946 0.997 0.8501 0.9592 0.9121 0.9 0.99 0.85 0.96 0.8908 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585929 NA NA 0.875495 0.948683 NA 0.964 NA 1.339105 1519 11 10526060 10526060 C T intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs7943804 0.87 0.87 0.852 0.861821 0.8907 0.8641 0.9323 0.7708 0.9029 0.9 0.86 0.91 0.8 0.8835 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502735 NA NA 0.893922 0.818264 NA 0.855 NA 1.331878 1519 17 48151908 48151908 T C intronic ITGA3 NA NA NA intronic ENSG00000005884 NA NA NA NA NA 17q21.33 NA NA NA NA rs4793639 0.8 0.8 0.803 0.76278 0.9026 0.5268 0.8617 0.8298 0.7014 0.91 0.58 0.89 0.84 0.8553 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808991 NA NA 0.914419 0.830005 ID=COSM148294;OCCURENCE=1(stomach) 0.804 NA 1.327681 1519 11 550028 550028 C G intronic LRRC56 NA NA NA intronic ENSG00000161328 NA NA NA NA NA 11p15.5 NA NA NA NA rs11246180 0.87 0.87 0.879 0.852037 0.9036 0.9206 0.9236 0.7617 0.7996 0.91 0.91 0.89 0.76 0.8767 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.199933 NA NA 0.893115 0.787335 NA 0.79 NA 1.326585 1519 7 50742118 50742118 A G intronic GRB10 NA NA NA intronic ENSG00000106070 NA NA NA NA NA 7p12.1 NA NA NA NA rs2715128 0.92 0.92 0.906 0.913339 0.8996 0.9573 0.9323 0.9319 0.8436 0.9 0.94 0.91 0.94 0.8954 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560821 NA NA 0.879057 0.934399 NA 0.92 NA 1.325943 1520 20 48561893 48561893 A G intronic RNF114 NA NA NA intronic ENSG00000124226 NA NA NA NA NA 20q13.13 NA NA NA NA rs4810993 0.92 0.92 0.924 0.93151 0.8857 0.9405 0.9207 0.9667 0.9294 0.87 0.93 0.91 0.98 0.9068 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.445414 4.445414 NA 0.88593 0.950295 NA 0.942 NA 1.32157 1520 10 115412686 115412686 G A intronic NRAP NA NA NA intronic ENSG00000197893 NA NA NA NA NA 10q25.3 NA NA NA NA rs3121488 0.87 0.87 0.873 0.877796 0.8926 0.9038 0.9107 0.8109 0.9029 0.88 0.92 0.87 0.81 0.8955 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223916 NA NA 0.892093 0.825919 NA 0.725 NA 1.319807 1520 5 176004846 176004846 C T intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs1565149 0.83 0.83 0.808 0.809305 0.9095 0.8194 0.8991 0.6793 0.8078 0.92 0.81 0.93 0.65 0.8442 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.723579 NA NA 0.927391 0.709941 NA 0.732 NA 1.318909 1520 15 42147206 42147206 T C intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA NA NA NA rs1648826 0.94 0.94 0.952 0.928315 0.8907 0.9921 0.9092 0.9826 0.8415 0.9 0.99 0.91 0.98 0.9026 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385267 NA NA 0.888033 0.967125 NA 0.899 NA 1.318667 1521 12 54932788 54932788 T C intronic NCKAP1L NA NA NA intronic ENSG00000123338 NA NA NA NA NA 12q13.2 NA NA NA NA rs4758966 0.91 0.91 0.906 0.889177 0.9016 0.9504 0.9222 0.8079 0.8998 0.91 0.96 0.93 0.82 0.8929 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899534 NA NA 0.891279 0.822969 NA 0.848 NA 1.314221 1521 1 155870416 155870416 G A intronic RIT1 NA NA NA intronic ENSG00000143622 NA NA NA NA NA 1q22 NA NA NA NA rs1749409 0.8 0.8 0.771 0.779752 0.8926 0.9405 0.9078 0.4327 0.8763 0.9 0.93 0.91 0.44 0.8772 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017684 NA NA 0.920233 0.545847 NA 0.696 NA 1.309967 1521 1 155928232 155928232 T C intronic ARHGEF2 NA NA NA intronic ENSG00000116584 NA NA NA NA NA 1q22 NA NA NA NA rs2364404 0.8 0.8 0.764 0.773962 0.8936 0.9405 0.9078 0.41 0.8763 0.9 0.93 0.91 0.41 0.8758 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033826 NA NA 0.920814 0.527009 NA 0.688 NA 1.309786 1521 12 109670468 109670468 T C intronic ACACB NA NA NA intronic ENSG00000076555 NA NA NA NA NA 12q24.11 NA NA NA NA rs3742027 0.87 0.87 0.869 0.866414 0.9076 0.7054 0.9337 0.9962 0.7669 0.91 0.67 0.92 1 0.8819 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.28086 NA NA 0.902442 0.972764 NA 0.87 NA 1.308058 1521 7 158455089 158455089 G A intronic NCAPG2 NA NA NA intronic ENSG00000146918 NA NA NA NA NA 7q36.3 NA NA NA NA rs4484634 0.94 0.94 0.939 0.960264 0.8907 0.9692 0.9654 0.9939 0.9734 0.89 0.96 0.96 0.99 0.9189 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.8166 NA NA 0.88536 0.979989 NA 0.964 NA 1.30504 1522 1 197055925 197055925 T C intronic ASPM NA NA NA intronic ENSG00000066279 NA NA NA NA NA 1q31.3 NA NA NA NA rs10754213 0.82 0.82 0.78 0.782748 0.9135 1 0.8804 0.379 0.9008 0.92 1 0.9 0.4 0.8786 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77118 NA NA 0.907588 0.457519 NA 0.717 NA 1.300312 1522 14 71202650 71202650 C T intronic MAP3K9 NA NA NA intronic ENSG00000006432 NA NA NA NA NA 14q24.2 NA NA NA NA rs4141095 0.85 0.85 0.849 0.860623 0.9165 0.7093 0.8761 0.9228 0.864 0.92 0.68 0.88 0.9 0.8882 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.290547 NA NA 0.897209 0.920336 NA 0.92 NA 1.298091 1523 2 224777094 224777094 T C intronic WDFY1 NA NA NA intronic ENSG00000085449 NA NA NA NA NA 2q36.1 NA NA NA NA rs541712 0.78 0.78 0.75 0.796126 0.9125 0.5843 0.8487 0.7829 0.8753 0.91 0.53 0.88 0.81 0.8682 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722135 NA NA 0.924419 0.810486 NA 0.862 NA 1.294881 1523 1 205890679 205890679 T C intronic SLC26A9 NA NA NA intronic ENSG00000174502 NA NA NA NA NA 1q32.1 NA NA NA NA rs12759719 0.9 0.9 0.898 0.914137 0.8926 0.8849 0.9395 0.9168 0.9448 0.9 0.89 0.93 0.9 0.915 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502521 NA NA 0.897558 0.917385 NA 0.877 NA 1.294842 1523 6 44274797 44274797 T C intronic AARS2 NA NA NA UTR3 ENSG00000272442 ENST00000438774:c.*25T>C,ENST00000505802:c.*25T>C NA NA NA NA 6p21.1 NA NA NA NA rs7740535 0.91 0.91 0.896 0.886781 0.9612 0.998 0.9524 0.6649 0.9489 0.96 1 0.95 0.7 0.9473 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565949 NA NA 0.966163 0.733545 NA 0.877 NA 1.2920037 1524 1 103496620 103496620 G T intronic COL11A1 NA NA NA UTR3 ENSG00000060718 ENST00000447608:c.*10C>A NA NA NA NA 1p21.1 NA NA NA NA rs7523441 0.94 0.94 0.939 0.943091 0.9662 1 0.9726 0.8313 0.9908 0.97 1 0.98 0.81 0.9594 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579752 NA NA 0.957308 0.85274 NA 0.928 NA 1.2837587 1524 2 24432667 24432667 C G intronic ITSN2 NA NA NA intronic ENSG00000198399 NA NA NA NA NA 2p23.3 NA NA NA NA rs2303295 0.86 0.86 0.828 0.859625 0.9105 0.9196 0.9265 0.6838 0.9356 0.92 0.92 0.92 0.68 0.8981 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11809 NA NA 0.916395 0.692238 NA 0.841 NA 1.275005 1525 7 107820911 107820911 G T intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs414077 0.93 0.93 0.94 0.914936 0.9066 0.999 0.9222 0.8812 0.8773 0.91 1 0.91 0.9 0.9156 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.551145 NA NA 0.907674 0.902179 NA 0.87 NA 1.270126 1525 7 98461062 98461062 G A intronic TMEM130 NA NA NA intronic ENSG00000166448 NA NA NA NA NA 7q22.1 NA NA NA NA rs1548622 0.87 0.87 0.858 0.875799 0.9095 0.876 0.8372 0.8222 0.9407 0.91 0.88 0.83 0.83 0.9041 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9612 NA NA 0.916376 0.854517 NA 0.884 NA 1.270024 1525 11 2940492 2940492 T C intronic SLC22A18 NA NA NA intronic ENSG00000110628 NA NA NA NA NA 11p15.4 NA NA NA NA rs450244 0.92 0.92 0.903 0.906749 0.9145 0.8998 0.8487 0.9221 0.9264 0.92 0.9 0.9 0.94 0.9058 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109418 NA NA 0.909979 0.915266 NA 0.891 NA 1.269721 1525 7 98558880 98558880 G C intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs160384 0.86 0.86 0.865 0.886981 0.9155 0.7847 0.853 0.9138 0.9509 0.91 0.76 0.85 0.9 0.9007 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688239 NA NA 0.918488 0.91103 NA 0.899 NA 1.265312 1526 15 73616635 73616635 T C intronic HCN4 NA NA NA intronic ENSG00000138622 NA NA NA NA NA 15q24.1 NA NA NA NA rs481579 0.79 0.79 0.763 0.772963 0.9314 0.8135 0.9438 0.469 0.8579 0.94 0.81 0.94 0.44 0.8758 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.842972 NA NA 0.931416 0.540301 NA 0.551 NA 1.261384 1526 1 115601615 115601615 A G intronic TSPAN2 NA NA NA intronic ENSG00000134198 NA NA NA NA NA 1p13.2 NA NA NA NA rs7523818 0.96 0.96 0.96 0.965655 0.8986 1 0.964 0.9985 0.956 0.89 1 0.96 1 0.935 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48506 NA NA 0.908953 0.983205 NA 0.971 NA 1.257447 1527 3 52546487 52546487 C T intronic STAB1 NA NA NA intronic ENSG00000010327 NA NA NA NA NA 3p21.1 NA NA NA NA rs7644763 0.94 0.94 0.947 0.955072 0.9095 0.9752 0.9078 0.9834 0.9765 0.91 0.98 0.89 0.99 0.9372 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.971617 1.971617 NA 0.91907 0.978665 NA 0.884 NA 1.23423 1527 9 130672221 130672221 C T intronic ST6GALNAC4 NA NA NA intronic ENSG00000136840 NA NA NA NA NA 9q34.11 NA NA NA NA rs10739700 0.81 0.81 0.787 0.800519 0.9354 0.7867 0.8444 0.6165 0.8937 0.93 0.79 0.88 0.61 0.8896 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.477656 1.477656 NA 0.942648 0.669088 NA 0.768 NA 1.232352 1527 19 49216926 49216926 A G intronic MAMSTR NA NA NA intronic ENSG00000176909 NA NA NA NA NA 19q13.33 NA NA NA NA rs281384 0.91 0.91 0.938 0.879193 0.9245 0.8611 0.8588 0.9546 0.7638 0.92 0.86 0.9 0.97 0.9006 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.005734 NA NA 0.943023 0.944848 NA 0.891 NA 1.231877 1527 2 85890771 85890771 T G intronic SFTPB NA NA NA intronic ENSG00000168878 NA NA NA NA NA 2p11.2 NA NA NA NA rs893159 0.97 0.97 0.957 0.97484 0.9225 0.999 0.9755 0.9977 0.9724 0.91 1 0.99 0.99 0.9365 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55362 NA NA 0.91277 0.982029 NA 0.913 NA 1.22823 1527 10 15154974 15154974 A G intronic NMT2 NA NA NA intronic ENSG00000152465 NA NA NA NA NA 10p13 NA NA NA NA rs7072269 0.96 0.96 0.961 0.973642 0.9125 1 0.9597 0.997 0.9877 0.9 1 0.96 1 0.946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008383 NA NA 0.914535 0.983886 NA 0.964 NA 1.226965 1528 3 52537969 52537969 T C intronic STAB1 NA NA NA intronic ENSG00000010327 NA NA NA NA NA 3p21.1 NA NA NA NA rs4687545 0.95 0.95 0.95 0.960463 0.9135 0.9752 0.9207 0.9932 0.9775 0.91 0.98 0.91 0.99 0.9415 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320033 NA NA 0.927307 0.981802 NA 0.877 NA 1.217693 1528 1 16376278 16376278 G A intronic CLCNKB NA NA NA intronic ENSG00000184908 NA NA NA NA NA 1p36.13 NA NA NA NA rs7365182 0.86 0.86 0.841 0.827875 0.9384 0.999 0.9107 0.4856 0.9417 0.95 1 0.9 0.56 0.9106 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03147 NA NA 0.935465 0.572855 NA 0.783 NA 1.215535 1529 11 103091546 103091546 G A intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs670464 0.93 0.93 0.923 0.920927 0.9374 0.8859 0.9496 0.9478 0.8834 0.94 0.87 0.95 0.95 0.9261 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493921 NA NA 0.924994 0.943642 NA 0.899 NA 1.211506 1529 12 125453232 125453232 A G intronic DHX37 NA NA NA intronic ENSG00000150990 NA NA NA NA NA 12q24.31 NA NA NA NA rs10773130 0.94 0.94 0.944 0.946685 0.9274 0.9444 0.8199 0.9932 0.9959 0.94 0.95 0.87 0.99 0.9335 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.548526 NA NA 0.931279 0.981843 NA 0.884 NA 1.207821 1529 9 36063743 36063743 C G intronic RECK NA NA NA intronic ENSG00000122707 NA NA NA NA NA 9p13.3 NA NA NA NA rs942478 0.85 0.85 0.867 0.859824 0.9294 0.7351 0.8689 0.8585 0.9121 0.93 0.72 0.89 0.85 0.9167 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298021 NA NA 0.946163 0.861552 NA 0.899 NA 1.207737 1530 11 12313887 12313887 C G intronic MICALCL NA NA NA intronic ENSG00000133808 NA NA NA NA NA 11p15.3 NA NA NA NA rs1874043 0.94 0.94 0.936 0.917532 0.9443 0.9415 0.9467 0.907 0.8589 0.95 0.95 0.93 0.9 0.9239 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356099 NA NA 0.927056 0.916285 NA 0.964 NA 1.204744 1530 12 93206878 93206878 G A intronic EEA1 NA NA NA intronic ENSG00000102189 NA NA NA NA NA 12q22 NA NA NA NA rs3925797 0.92 0.92 0.91 0.915136 0.9433 0.9623 0.938 0.826 0.9417 0.94 0.96 0.94 0.83 0.9259 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717022 NA NA 0.92907 0.853088 NA 0.848 NA 1.20173 1530 17 4620497 4620497 C T intronic ARRB2 NA NA NA intronic ENSG00000141480 NA NA NA NA NA 17p13.2 NA NA NA NA rs7208257 0.91 0.91 0.919 0.91873 0.9314 1 0.915 0.8306 0.9438 0.94 1 0.92 0.77 0.9364 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014018 NA NA 0.931163 0.842261 NA 0.935 NA 1.201037 1530 10 50227870 50227870 C T intronic VSTM4 NA NA NA intronic ENSG00000165633 NA NA NA NA NA 10q11.23 NA NA NA NA rs1913524 0.89 0.89 0.854 0.873403 0.9414 0.9702 0.9352 0.6808 0.9202 0.95 0.96 0.93 0.68 0.921 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248505 NA NA 0.939884 0.737631 NA 0.884 NA 1.197716 1531 10 49661341 49661341 A G intronic ARHGAP22 NA NA NA intronic ENSG00000128805 NA NA NA NA NA 10q11.22 NA NA NA NA rs7092959 0.86 0.86 0.848 0.82488 0.9553 0.9891 0.928 0.5484 0.8221 0.96 0.99 0.92 0.51 0.9034 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.287028 1.287028 NA 0.947326 0.61734 NA 0.804 NA 1.193974 1532 9 79003440 79003440 G A intronic RFK NA NA NA intronic ENSG00000135002 NA NA NA NA NA 9q21.13 NA NA NA NA rs2501924 0.93 0.93 0.922 0.919728 0.9324 0.999 0.9582 0.8139 0.9407 0.93 1 0.96 0.84 0.9376 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00562 NA NA 0.945104 0.831366 NA 0.92 NA 1.184896 1533 2 138163391 138163391 T C intronic THSD7B NA NA NA intronic ENSG00000144229 NA NA NA NA NA 2q22.1 NA NA NA NA rs1551281 0.88 0.88 0.865 0.879792 0.9513 0.9762 0.9452 0.6505 0.9703 0.95 0.98 0.93 0.61 0.936 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072436 NA NA 0.948967 0.714794 NA 0.862 NA 1.163733 1533 2 224758906 224758906 C T intronic WDFY1 NA NA NA intronic ENSG00000085449 NA NA NA NA NA 2q36.1 NA NA NA NA rs625150 0.89 0.89 0.88 0.910144 0.9433 0.8284 0.9496 0.8775 0.9765 0.94 0.79 0.94 0.9 0.9399 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.725732 NA NA 0.956047 0.904902 NA 0.92 NA 1.160753 1533 20 3723091 3723091 A G intronic HSPA12B NA NA NA intronic ENSG00000132622 NA NA NA NA NA 20p13 NA NA NA NA rs611073 0.92 0.92 0.903 0.919529 0.9533 0.9137 0.9654 0.8207 0.9918 0.95 0.91 0.96 0.86 0.9422 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49534 NA NA 0.946512 0.858148 NA 0.848 NA 1.157988 1534 7 158528158 158528158 C G intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA NA NA NA rs3816461 0.93 0.93 0.923 0.913139 0.9592 0.9524 0.928 0.8268 0.9315 0.96 0.96 0.94 0.83 0.9374 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562249 NA NA 0.95093 0.842941 NA 0.899 NA 1.15247 1534 7 158528170 158528170 G A intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA NA NA NA rs7787974 0.93 0.93 0.929 0.91893 0.9612 0.9524 0.9265 0.8464 0.9335 0.96 0.96 0.94 0.85 0.9384 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050248 NA NA 0.951047 0.851339 NA 0.913 NA 1.149353 1534 1 110201580 110201580 C T intronic GSTM4 NA NA NA intronic ENSG00000168765 NA NA NA NA NA 1p13.3 NA NA NA NA rs650985 0.98 0.98 0.976 0.979633 0.9513 1 0.9625 0.9932 0.9816 0.96 1 0.96 0.99 0.9586 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321831 NA NA 0.941512 0.98729 NA 0.87 NA 1.148588 1535 2 216243832 216243832 T C intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA NA NA rs1250204 0.94 0.94 0.931 0.9375 0.9493 0.999 0.964 0.8661 0.9397 0.96 1 0.95 0.85 0.9523 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805686 NA NA 0.95407 0.88039 NA 0.92 NA 1.14433 1535 1 200578093 200578093 G A intronic KIF14 NA NA NA intronic ENSG00000118193 NA NA NA NA NA 1q32.1 NA NA NA NA rs2794409 0.92 0.92 0.905 0.912141 0.9662 0.871 0.8948 0.913 0.91 0.97 0.85 0.9 0.91 0.9305 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125557 NA NA 0.962096 0.920213 NA 0.913 NA 1.141204 1535 12 31132479 31132479 A C intronic TSPAN11 NA NA NA intronic ENSG00000110900 NA NA NA NA NA 12p11.21 NA NA NA NA rs35096 0.95 0.95 0.948 0.946885 0.9523 0.9058 0.9496 0.9788 0.9387 0.95 0.91 0.94 0.97 0.9535 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.566534 NA NA 0.957093 0.968225 NA 0.978 NA 1.137107 1536 6 44269023 44269023 T C intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA NA NA NA rs325007 0.89 0.89 0.869 0.867812 0.9612 0.998 0.9496 0.5915 0.953 0.96 1 0.95 0.6 0.9421 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135287 NA NA 0.966047 0.677485 NA 0.87 NA 1.130653 1536 3 111766559 111766559 T G intronic TMPRSS7 NA NA NA intronic ENSG00000176040 NA NA NA NA NA 3q13.2 NA NA NA NA rs1688304 0.92 0.92 0.887 0.915335 0.9583 1 0.9611 0.7383 0.9908 0.96 1 0.95 0.73 0.9537 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753757 NA NA 0.960717 0.739884 NA 0.913 NA 1.127283 1537 9 131550722 131550722 C G intronic TBC1D13 NA NA NA intronic ENSG00000107021 NA NA NA NA NA 9q34.11 NA NA NA NA rs1891076 0.94 0.94 0.953 0.944688 0.9583 0.9147 0.9697 0.9599 0.9233 0.96 0.9 0.96 0.97 0.9565 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.219407 NA NA 0.961047 0.959828 NA 0.935 NA 1.124153 1537 1 3440647 3440647 T C intronic MEGF6 NA NA NA intronic ENSG00000162591 NA NA NA NA NA 1p36.32 NA NA NA NA rs2794322 0.95 0.95 0.947 0.937899 0.9662 0.9137 0.9524 0.9516 0.9049 0.97 0.92 0.95 0.96 0.9493 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696252 NA NA 0.96266 0.95062 NA 0.899 NA 1.12184 1537 1 103461508 103461508 T A intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs2622867 0.92 0.92 0.91 0.923922 0.9662 1 0.964 0.7632 0.9908 0.97 1 0.97 0.72 0.9536 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32777 NA NA 0.960401 0.798457 NA 0.884 NA 1.119799 1538 9 78848542 78848542 C G intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs903545 0.97 0.97 0.957 0.952476 0.9642 0.999 0.9726 0.9289 0.91 0.97 1 0.97 0.93 0.9612 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446844 NA NA 0.965846 0.908105 NA 0.986 NA 1.108754 1539 7 101265350 101265350 T C intronic MYL10 NA NA NA intronic ENSG00000106436 NA NA NA NA NA 7q22.1 NA NA NA NA rs4263675 0.98 0.98 0.976 0.986621 0.9553 0.999 0.9798 1 0.9928 0.95 1 0.97 1 0.9752 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423028 NA NA 0.967326 0.993872 NA 0.942 NA 1.102174 1539 1 175105942 175105942 G A intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs4650703 0.98 0.98 0.991 0.987819 0.9583 1 0.9827 0.9962 0.998 0.97 1 0.98 0.99 0.9758 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453072 NA NA 0.964651 0.990468 NA 0.993 NA 1.101249 1539 3 64518994 64518994 T C intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs1017537 0.96 0.96 0.95 0.961262 0.9622 1 0.9654 0.9047 0.9939 0.96 1 0.97 0.9 0.9706 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707561 NA NA 0.966977 0.889242 NA 0.971 NA 1.100223 1540 18 3272874 3272874 T A intronic MYL12B NA NA NA intronic ENSG00000118680 NA NA NA NA NA 18p11.31 NA NA NA NA rs7407072 0.94 0.94 0.903 0.928914 0.9751 0.8938 0.9035 0.9418 0.9182 0.98 0.88 0.93 0.93 0.9512 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179044 NA NA 0.979419 0.955515 NA 0.739 NA 1.094281 1540 7 80290369 80290369 A G intronic CD36 NA NA NA intronic ENSG00000135218 NA NA NA NA NA 7q21.11 NA NA NA NA rs3211892 0.91 0.91 0.891 0.918331 0.9662 1 0.9669 0.7352 0.998 0.97 1 0.96 0.7 0.9649 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.153944 NA NA 0.976163 0.811394 NA 0.899 NA 1.092737 1541 5 38962543 38962543 A G intronic RICTOR NA NA NA intronic ENSG00000164327 NA NA NA NA NA 5p13.1 NA NA NA NA rs7729745 0.96 0.96 0.963 0.9375 0.9861 0.9881 0.9726 0.8646 0.909 0.98 0.99 0.96 0.9 0.9641 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.85678 1.85678 NA 0.978804 0.882856 NA 0.848 NA 1.070996 1541 15 41346092 41346092 T C intronic INO80 NA NA NA intronic ENSG00000128908 NA NA NA NA NA 15q15.1 NA NA NA NA rs2899010 0.89 0.89 0.873 0.860823 0.993 0.999 0.951 0.5416 0.9499 0.99 1 0.95 0.56 0.9506 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816638 NA NA 0.986977 0.623468 NA 0.841 NA 1.069423 1542 4 177087322 177087322 C T intronic WDR17 NA NA NA intronic ENSG00000150627 NA NA NA NA NA 4q34.2 NA NA NA NA rs4388031 0.96 0.96 0.952 0.95607 0.9831 1 0.9769 0.8616 0.9959 0.98 1 0.97 0.86 0.9767 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034061 NA NA 0.982674 0.887104 NA 0.906 NA 1.057526 1543 18 71930734 71930734 T C intronic CYB5A NA NA NA intronic ENSG00000166347 NA NA NA NA NA 18q22.3 NA NA NA NA rs2032262 0.95 0.95 0.939 0.922125 0.9911 0.994 0.9726 0.7882 0.9223 0.99 0.99 0.98 0.8 0.9695 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378251 NA NA 0.993605 0.828643 NA 0.877 NA 1.045795 1544 17 3475405 3475405 C T intronic TRPV1 NA NA NA intronic ENSG00000196689,ENSG00000262304 NA NA NA NA NA 17p13.2 NA NA NA NA rs224549 0.88 0.88 0.857 0.867612 0.999 1 0.9697 0.5151 1 0.99 0.99 0.96 0.52 0.9636 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847358 NA NA 0.99832 0.610422 NA 0.87 NA 1.03908 1545 14 75415194 75415194 G C intronic PGF NA NA NA intronic ENSG00000119630 NA NA NA NA NA 14q24.3 NA NA NA NA rs2159907 0.99 0.99 0.993 0.99381 0.994 1 0.9885 1 0.9826 0.99 1 0.98 1 0.9899 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351966 NA NA 0.985116 0.998638 NA 0.993 NA 1.030984 1545 9 131392553 131392553 G A intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs7866175 0.93 0.93 0.913 0.919329 1 0.9464 0.9712 0.7738 0.9683 1 0.95 0.97 0.78 0.9749 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145773 NA NA 0.998488 0.79823 NA 0.928 NA 1.026612 1546 9 130670903 130670903 C A intronic ST6GALNAC4 NA NA NA intronic ENSG00000136840 NA NA NA NA NA 9q34.11 NA NA NA NA rs10760511 0.94 0.94 0.939 0.934704 0.999 0.994 0.9798 0.77 0.998 1 0.99 0.98 0.78 0.9811 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074469 NA NA 0.998487 0.817439 NA 0.957 NA 1.021413 1546 11 62397177 62397177 C G intronic GANAB NA NA NA intronic ENSG00000089597 NA NA NA NA NA 11q12.3 NA NA NA NA rs948683 0.95 0.95 0.944 0.95647 0.995 1 0.9841 0.848 0.999 0.99 1 0.99 0.81 0.9866 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.451158 NA NA 0.998139 0.870799 NA 0.935 NA 1.020261 1547 1 160920813 160920813 A G intronic ITLN2 NA NA NA intronic ENSG00000158764 NA NA NA NA NA 1q23.3 NA NA NA NA rs790059 1 1 0.998 0.999002 0.996 1 0.9986 1 1 1 1 1 1 0.9959 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0676 NA NA 0.994186 0.99773 NA 1 NA 1.013914 1547 12 120998481 120998481 G A intronic RNF10 NA NA NA intronic ENSG00000022840 NA NA NA NA NA 12q24.31 NA NA NA NA rs787949 0.98 0.98 0.979 0.96865 1 0.999 0.9928 0.8971 0.9847 1 1 0.99 0.91 0.9897 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758644 NA NA 0.998953 0.930549 NA 0.964 NA 1.011347 1547 1 151373200 151373200 T C intronic PSMB4 NA NA NA intronic ENSG00000159377 NA NA NA NA NA 1q21.3 NA NA NA NA rs2495391 0.98 0.98 0.974 0.975839 1 1 0.9971 0.91 1 1 1 0.99 0.89 0.9923 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.270097 2.270097 NA 0.999651 0.913073 NA 0.993 NA 1.008049 1548 4 3240526 3240526 A G intronic HTT NA NA NA intronic ENSG00000197386 NA NA NA NA NA 4p16.3 NA NA NA NA rs2858081 0.99 0.99 0.983 0.989018 1 0.999 0.9971 0.9607 1 1 1 0.99 0.95 0.9964 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442937 NA NA 0.999636 0.958866 NA 0.826 NA 1.003964 1548 17 73328773 73328773 T C intronic GRB2 NA NA NA intronic ENSG00000177885 NA NA NA NA NA 17q25.1 NA NA NA NA rs1529844 0.99 0.99 0.989 0.992013 1 1 0.9986 0.9705 1 1 1 1 0.96 0.9969 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177768 NA NA 0.999884 0.965048 NA 0.986 NA 1.003216 1548 17 73279700 73279700 C T intronic SLC25A19 NA NA NA intronic ENSG00000125454 NA NA NA NA NA 17q25.1 NA NA NA NA rs4788882 0.99 0.99 0.989 0.992412 1 1 0.9971 0.9728 1 1 1 1 0.97 0.9976 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.037283 NA NA 0.999884 0.97458 NA 0.993 NA 1.002516 1548 11 60783135 60783135 A G intronic CD6 NA NA NA intronic ENSG00000013725 NA NA NA NA NA 11q12.2 NA NA NA NA rs3019557 1 1 0.998 0.996605 1 1 1 0.9871 1 1 1 1 0.99 0.9985 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935771 NA NA 0.999884 0.984567 NA 1 NA 1.001616 1548 12 123433137 123433137 T C intronic ABCB9 NA NA NA intronic ENSG00000150967 NA NA NA NA NA 12q24.31 NA NA NA NA rs10848106 1 1 0.994 0.997005 1 1 1 0.9887 1 1 1 1 0.99 0.9992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143336 NA NA 1 0.99228 NA 0.993 NA 1.0008 1549 19 56511082 56511082 C G upstream NLRP5 NA NA NA upstream ENSG00000171487 NA NA NA NA NA 19q13.43 NA NA NA NA rs35427984 0.93 0.93 0.926 0.939696 0.9016 0.9276 0.9308 0.9939 0.9243 0.9 0.91 0.93 0.99 0.9199 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856711 NA NA 0.919771 0.983358 NA 0.804 NA 0.9253956 1550 2 101126124 101126124 T A intergenic NMS,PDCL3 dist=26382;dist=53294 NA NA downstream ENSG00000204637 NA NA NA NA NA 2q11.2 NA NA NA NA rs1829479 0.96 0.96 0.959 0.970847 0.9056 1 0.9597 0.9894 0.9908 0.92 1 0.96 0.99 0.9386 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.597584 NA NA 0.913099 0.9775 NA 0.957 NA 0.742701 1551 7 4490854 4490854 C T intergenic SDK1,FOXK1 dist=182223;dist=231076 NA NA intergenic ENSG00000146555,ENSG00000261809 dist=182222;dist=60736 NA NA NA NA 7p22.2 NA NA NA NA rs314605 0.8 0.8 0.799 0.790535 0.8996 0.7649 0.7291 0.7413 0.8149 0.9 0.73 0.77 0.76 0.8456 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200213 NA NA 0.906328 0.772831 NA 0.783 NA 0.6818054